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_13400
|
Consider a variant on Chromosome 9 in gene SETX (senataxin). Determine its clinical classification and disease relevance.
|
Pathogenic; not provided
|
AAAAATGGCTAAAATTTGAGGTACGAATTGATCAAAAGATTTAACATAAAGTACATTGATGAAGATACGTTCACTCAAGCTTTATAAAAGCCATTTATCTTGCCATGTACAGTGTTAACAACTCACTTCTCTTCTTTTGTAGTAGACTTGTCCCTTTGTACATTACACTTCCTTCCCCAACACTCCAATCTTGTTACCAGACTGTCTTTGCACTCCACTCTGCCTGTAACATACTTCCCACAGTTAACTCCTAGTCACTTGGGTCTCAGTGTAAATATCATCTGCTCATAGAGGTTATCTGATCTCTCCAGAAAGTGCCCTGTCCCCTTTGTTCTAGATCATACTAGAGTCCTTATCTCAATCCCAAATGGTCACTTCCAGAGAGCAGAGACCTCACACCTGTCTTGTTCACCACTTTATCTCCCATGCTTGTAAGAGCACTTGGCACATACTAGGCACTCAAATATCTATCAAGCTAATGAACCATGACTATTTACCTCAACATTGTTGGTTTTAAGAGTATTACTGTATACACGAAAGTTTCTTTTGAGGATTAACTAAAAATTTGCTCCCACTTCTTACCTGCCTTGAAAACACACACACAAAAATCCTTCTAAACGCAGTTGAATGCTTACACTAAAGAATTATTTGATGTTTTTCTCAAATTTTAACGGGAATCTTATCGTTTGTCAACTCTACTTGAGTAAGGAGGAGAGAAGAACCAGAATAGGATGTGCTGGGGTTGGGGAGGCTGTTACACAGAGCAGCTGCTGTGATGAGTAAGAAACTGGCGGCCAGACGCAGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGCGGGCAGATCACAAGGTCAGGAGATTGAGACCATCCTGGCTAACATGGTGAAACCCCATCTCTACTAAAAATACAAAAAATTAGCCGGCCGTGGTGGCGAGAGCCTATAGTCTCAGCTACTCGGGAGGCTGAGGCAGGAGAACAGCCTGAACCCGGGAGGCAGAGCTTGCAGTGAGCCGAGATTGCACCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCGTCTCAAAAAAAAGAAAAAAGAAAAAAGAAAGAAAGAAACTGGGAAGTCTGACGTGTAGGGAAATTTAGGATTCATTACTTTGTGTTCAATGTAATTCACCCTTTGCCACCTCCTCAAGAAAACTACAGCAGAGGTCTCTTACTTAAAAACAAAACAAATGCACATGGGAAACTATCTCCTCTGAGAAGTCTTCCTTTACCCGTGCGTCAATAAACATTTCCTTCTGTGTTACCTCTGCACTTGGTATATTAGCACCCTGAGTTGTGTCTATCAGCTCCAAGGAGCAGAGTTTCCAGCCAGGCACAGTGGCTCATGCCCGTAATCCCAGCACTTTGGGAGGCCGAGGCTGGTGGATCACCTGAGGTCAGAATCAGAAGTTCAAGACCAGCCTGACCAACATGGTGAAACCCCTTCTCTACTAAAAATACAAAATTAGTGAGGCCTGGTGGCGCAGGCCTGTAATCTCAGCTACTTGGGAGGCTGAGGCAGGAGAATCACTTGAACCTGGGAGGCAGAAGGTTGCAGTGAGCAAAGATCGCACCATTGCACTCCAGCCTGGGCAGCAAGAGCAAAACTCCACCTAAAAAAAAAAAAAAAAAAAAGTGTTTCCTCTGTATTGCCAGTATCTAAAACAGTGGCTGGCACAAATGTCTGTTCAACATGAAATCTAAAACCAGTATCTAAATCGAAACGGTCAATTTTAATTTAACTATACTTTTTTTTGTTTTTTCTTTTGAGACAGAGTCTCACTCTGCCGCCCAGGTTGGAGTGCAGTGGCGCGACCTCGGCTCACTGCAACCTCCGCCTCCTGGGTTTAAGCAATTCTCTGCCTCAGCCTCCCGAGTAGCTGGGATTACAGGTGCCCGCAACCACGCCTGGCTGATTTTTTGAACTATACTCTCATTTTCACTCAGCAAGGTAAAGAGGTAACTTGAAAAGTTTGGAGAGGCATACAAATGAAACACATACTTACTGTTTCAAAAGTATTCAATACCATCAAAGGGAAAAAAACATTAAAATAATCTCCATAATTGTGAAATCTGACAGGCACAGGTCTTGAGATGGACTGACAAAGACTTGCAGGGGGCCCACACTGACCAAAGTTCAAAAACATTTCATATTTCCATTTTAAGACCTCTTTAACGAAGGTGTCAGAGACAGACTGTGATGACAAAAGAATGTTTACTGGAGAGGAAGATGGAAAATATTTGCTTTCACCAAATGGAACTTTGCAACCTTGCCTGTTGGAATTATTCGGAGACTGAGGATGAAGAACATTGCACGAATTCTTCATTTCACCAACTGGCTTCTGAGCTATGAGGGGAACTGGCTGTGGTACTTTCAAAATCGACTGTATCCCCTTTGACTTATTTTTTAGAGACGGTGAAAGTGCTGAAGAAGTTTCCAAAGATTTAGAAAGACCAGCAATTCGTGAAGTACTCTTTGAGCTAAAAATCTTAGTGGTAGGTCTCAAAGGTTTAGATGCAGGAGGAGGCAAGCCAGGTTTACGAAATACATCTTCATCTGCTGCTTTCACTTCAGAGTGTTTTGGGCAGTATTCACCCTGGTTTTTTGTGGTTTCAAGACAATCTTTGTACTTACACTTTGTGCCACTCAAAGATTCCAACTGAGGCCGACTTACAGAATCTTCTTCAACCTCAACTGTATCTTTTCCATGAATTAGTTCAATGAGTTTATAATTGTCATTCTCCATTTGTGAACATAAATCCATATCTTCAGGATCATTTTGGGTTAAAAATAAGTTATCTTCCTCTGCATCACTGCTGGAGTCAGGCTCTCCTTCTTTCAAAGCTGCCATCTCTATATGACGTGCTGTTGGATCACCTCCACCCAGAGGGTCTTCTGAAGTGGAGACAATTACTTCATTTGTTGGTACTGTTCCATTTAACACTACAGAATCACACTGGTTCAAAGGGCAAGCATCATCAGTTGCTGGAGACCCATGTTTTGCTTTTATGGTTTCTGGTTCAGAAGGCATGCATTTTATTAACTGTTTTCTGTTACTGTTGGCAAGTACCTCAGTTCCTCCTGTACAATTATAATCTGACCTATCAGATTCTGGTACAAATATGTCAGAATTCTGTGCTGTATGTGACCCTGCTCTTTTAACATCTGTACTTTCACAATCAGAAAGTCTTCGTCTATTTTTTTGTGATTTGGGTCTGATCTGCCTTTGCATCTGAAGTTCTTGACTAGTCAGAAGTTTCTTATTATTTCTGACAGACAGGTTCTGAGGAGAAATTAATTTAGTCTTTTTTCGGGTATCAACTACTCCAACAGTTTTGCCATGATCACGTAATTGAGCTACATAATCCAAAGACCGCTGGGACAACTCATATGCCTTACGAGGACCCTTTTTCAGGCCAAGTTTCTCAGCTGTTGAAGTTGGCTCAGGACACTGACGAAATTTCTTTGGCGGCACTATAGCAGGAGTTGTTCTACAACTTAGGTAATTTGAACTTCTATTCTGTCCTTTTTTGGCATCTGAATGAGTTTTCTTAGGGGTCTTAGAAACTGGAACTTTCCTGATGGGTTCTGTACAAGTACAAAGCTTTGAAGACTTCTTTTGTGAAACCGTAGTGGCTCTCTGAATACGTGAATTGGGAGTTGAAGTCCTTCTATCAATACTTTTAAAATCATTTCCCACAAGATCTCTCTTATTAGTATCAGACTGGCCCTCATTTCTGACAGAAGATGAAGGCCTCACAGGATCTTCAGCCATTGGTTTTTCAGATCGTTTTCTCTTAGGCTTTTTTACTTCAATTTCACAAAATTCTTCAACAGAAATACTCCGTGGTCTTGTGTGTTCTTCAATGCCCTCTGCTCCTTTTTTAACAACTTCAGATACATAATCTGTACAACCCTGACCATTTGTAGTATTGGCTATAGGAGCCAAACATTTTTTCTCACCATCTTGAACTGAATTATTATCGTCTGGATGATCTTGCCAAACTGAAAACACTTCAGATGAACTTTCAAACTCAAAACACTGAGAATCAGATTCCTC
|
AAAAATGGCTAAAATTTGAGGTACGAATTGATCAAAAGATTTAACATAAAGTACATTGATGAAGATACGTTCACTCAAGCTTTATAAAAGCCATTTATCTTGCCATGTACAGTGTTAACAACTCACTTCTCTTCTTTTGTAGTAGACTTGTCCCTTTGTACATTACACTTCCTTCCCCAACACTCCAATCTTGTTACCAGACTGTCTTTGCACTCCACTCTGCCTGTAACATACTTCCCACAGTTAACTCCTAGTCACTTGGGTCTCAGTGTAAATATCATCTGCTCATAGAGGTTATCTGATCTCTCCAGAAAGTGCCCTGTCCCCTTTGTTCTAGATCATACTAGAGTCCTTATCTCAATCCCAAATGGTCACTTCCAGAGAGCAGAGACCTCACACCTGTCTTGTTCACCACTTTATCTCCCATGCTTGTAAGAGCACTTGGCACATACTAGGCACTCAAATATCTATCAAGCTAATGAACCATGACTATTTACCTCAACATTGTTGGTTTTAAGAGTATTACTGTATACACGAAAGTTTCTTTTGAGGATTAACTAAAAATTTGCTCCCACTTCTTACCTGCCTTGAAAACACACACACAAAAATCCTTCTAAACGCAGTTGAATGCTTACACTAAAGAATTATTTGATGTTTTTCTCAAATTTTAACGGGAATCTTATCGTTTGTCAACTCTACTTGAGTAAGGAGGAGAGAAGAACCAGAATAGGATGTGCTGGGGTTGGGGAGGCTGTTACACAGAGCAGCTGCTGTGATGAGTAAGAAACTGGCGGCCAGACGCAGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGCGGGCAGATCACAAGGTCAGGAGATTGAGACCATCCTGGCTAACATGGTGAAACCCCATCTCTACTAAAAATACAAAAAATTAGCCGGCCGTGGTGGCGAGAGCCTATAGTCTCAGCTACTCGGGAGGCTGAGGCAGGAGAACAGCCTGAACCCGGGAGGCAGAGCTTGCAGTGAGCCGAGATTGCACCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCGTCTCAAAAAAAAGAAAAAAGAAAAAAGAAAGAAAGAAACTGGGAAGTCTGACGTGTAGGGAAATTTAGGATTCATTACTTTGTGTTCAATGTAATTCACCCTTTGCCACCTCCTCAAGAAAACTACAGCAGAGGTCTCTTACTTAAAAACAAAACAAATGCACATGGGAAACTATCTCCTCTGAGAAGTCTTCCTTTACCCGTGCGTCAATAAACATTTCCTTCTGTGTTACCTCTGCACTTGGTATATTAGCACCCTGAGTTGTGTCTATCAGCTCCAAGGAGCAGAGTTTCCAGCCAGGCACAGTGGCTCATGCCCGTAATCCCAGCACTTTGGGAGGCCGAGGCTGGTGGATCACCTGAGGTCAGAATCAGAAGTTCAAGACCAGCCTGACCAACATGGTGAAACCCCTTCTCTACTAAAAATACAAAATTAGTGAGGCCTGGTGGCGCAGGCCTGTAATCTCAGCTACTTGGGAGGCTGAGGCAGGAGAATCACTTGAACCTGGGAGGCAGAAGGTTGCAGTGAGCAAAGATCGCACCATTGCACTCCAGCCTGGGCAGCAAGAGCAAAACTCCACCTAAAAAAAAAAAAAAAAAAAAGTGTTTCCTCTGTATTGCCAGTATCTAAAACAGTGGCTGGCACAAATGTCTGTTCAACATGAAATCTAAAACCAGTATCTAAATCGAAACGGTCAATTTTAATTTAACTATACTTTTTTTTGTTTTTTCTTTTGAGACAGAGTCTCACTCTGCCGCCCAGGTTGGAGTGCAGTGGCGCGACCTCGGCTCACTGCAACCTCCGCCTCCTGGGTTTAAGCAATTCTCTGCCTCAGCCTCCCGAGTAGCTGGGATTACAGGTGCCCGCAACCACGCCTGGCTGATTTTTTGAACTATACTCTCATTTTCACTCAGCAAGGTAAAGAGGTAACTTGAAAAGTTTGGAGAGGCATACAAATGAAACACATACTTACTGTTTCAGAAGTATTCAATACCATCAAAGGGAAAAAAACATTAAAATAATCTCCATAATTGTGAAATCTGACAGGCACAGGTCTTGAGATGGACTGACAAAGACTTGCAGGGGGCCCACACTGACCAAAGTTCAAAAACATTTCATATTTCCATTTTAAGACCTCTTTAACGAAGGTGTCAGAGACAGACTGTGATGACAAAAGAATGTTTACTGGAGAGGAAGATGGAAAATATTTGCTTTCACCAAATGGAACTTTGCAACCTTGCCTGTTGGAATTATTCGGAGACTGAGGATGAAGAACATTGCACGAATTCTTCATTTCACCAACTGGCTTCTGAGCTATGAGGGGAACTGGCTGTGGTACTTTCAAAATCGACTGTATCCCCTTTGACTTATTTTTTAGAGACGGTGAAAGTGCTGAAGAAGTTTCCAAAGATTTAGAAAGACCAGCAATTCGTGAAGTACTCTTTGAGCTAAAAATCTTAGTGGTAGGTCTCAAAGGTTTAGATGCAGGAGGAGGCAAGCCAGGTTTACGAAATACATCTTCATCTGCTGCTTTCACTTCAGAGTGTTTTGGGCAGTATTCACCCTGGTTTTTTGTGGTTTCAAGACAATCTTTGTACTTACACTTTGTGCCACTCAAAGATTCCAACTGAGGCCGACTTACAGAATCTTCTTCAACCTCAACTGTATCTTTTCCATGAATTAGTTCAATGAGTTTATAATTGTCATTCTCCATTTGTGAACATAAATCCATATCTTCAGGATCATTTTGGGTTAAAAATAAGTTATCTTCCTCTGCATCACTGCTGGAGTCAGGCTCTCCTTCTTTCAAAGCTGCCATCTCTATATGACGTGCTGTTGGATCACCTCCACCCAGAGGGTCTTCTGAAGTGGAGACAATTACTTCATTTGTTGGTACTGTTCCATTTAACACTACAGAATCACACTGGTTCAAAGGGCAAGCATCATCAGTTGCTGGAGACCCATGTTTTGCTTTTATGGTTTCTGGTTCAGAAGGCATGCATTTTATTAACTGTTTTCTGTTACTGTTGGCAAGTACCTCAGTTCCTCCTGTACAATTATAATCTGACCTATCAGATTCTGGTACAAATATGTCAGAATTCTGTGCTGTATGTGACCCTGCTCTTTTAACATCTGTACTTTCACAATCAGAAAGTCTTCGTCTATTTTTTTGTGATTTGGGTCTGATCTGCCTTTGCATCTGAAGTTCTTGACTAGTCAGAAGTTTCTTATTATTTCTGACAGACAGGTTCTGAGGAGAAATTAATTTAGTCTTTTTTCGGGTATCAACTACTCCAACAGTTTTGCCATGATCACGTAATTGAGCTACATAATCCAAAGACCGCTGGGACAACTCATATGCCTTACGAGGACCCTTTTTCAGGCCAAGTTTCTCAGCTGTTGAAGTTGGCTCAGGACACTGACGAAATTTCTTTGGCGGCACTATAGCAGGAGTTGTTCTACAACTTAGGTAATTTGAACTTCTATTCTGTCCTTTTTTGGCATCTGAATGAGTTTTCTTAGGGGTCTTAGAAACTGGAACTTTCCTGATGGGTTCTGTACAAGTACAAAGCTTTGAAGACTTCTTTTGTGAAACCGTAGTGGCTCTCTGAATACGTGAATTGGGAGTTGAAGTCCTTCTATCAATACTTTTAAAATCATTTCCCACAAGATCTCTCTTATTAGTATCAGACTGGCCCTCATTTCTGACAGAAGATGAAGGCCTCACAGGATCTTCAGCCATTGGTTTTTCAGATCGTTTTCTCTTAGGCTTTTTTACTTCAATTTCACAAAATTCTTCAACAGAAATACTCCGTGGTCTTGTGTGTTCTTCAATGCCCTCTGCTCCTTTTTTAACAACTTCAGATACATAATCTGTACAACCCTGACCATTTGTAGTATTGGCTATAGGAGCCAAACATTTTTTCTCACCATCTTGAACTGAATTATTATCGTCTGGATGATCTTGCCAAACTGAAAACACTTCAGATGAACTTTCAAACTCAAAACACTGAGAATCAGATTCCTC
|
Task1_train_13401
|
A mutation on Chromosome 9 affecting SETX (senataxin) has been found. Is it harmful or harmless? What disease, if any, does it cause?
|
Pathogenic; Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2
|
ACAAATGAAACACATACTTACTGTTTCAAAAGTATTCAATACCATCAAAGGGAAAAAAACATTAAAATAATCTCCATAATTGTGAAATCTGACAGGCACAGGTCTTGAGATGGACTGACAAAGACTTGCAGGGGGCCCACACTGACCAAAGTTCAAAAACATTTCATATTTCCATTTTAAGACCTCTTTAACGAAGGTGTCAGAGACAGACTGTGATGACAAAAGAATGTTTACTGGAGAGGAAGATGGAAAATATTTGCTTTCACCAAATGGAACTTTGCAACCTTGCCTGTTGGAATTATTCGGAGACTGAGGATGAAGAACATTGCACGAATTCTTCATTTCACCAACTGGCTTCTGAGCTATGAGGGGAACTGGCTGTGGTACTTTCAAAATCGACTGTATCCCCTTTGACTTATTTTTTAGAGACGGTGAAAGTGCTGAAGAAGTTTCCAAAGATTTAGAAAGACCAGCAATTCGTGAAGTACTCTTTGAGCTAAAAATCTTAGTGGTAGGTCTCAAAGGTTTAGATGCAGGAGGAGGCAAGCCAGGTTTACGAAATACATCTTCATCTGCTGCTTTCACTTCAGAGTGTTTTGGGCAGTATTCACCCTGGTTTTTTGTGGTTTCAAGACAATCTTTGTACTTACACTTTGTGCCACTCAAAGATTCCAACTGAGGCCGACTTACAGAATCTTCTTCAACCTCAACTGTATCTTTTCCATGAATTAGTTCAATGAGTTTATAATTGTCATTCTCCATTTGTGAACATAAATCCATATCTTCAGGATCATTTTGGGTTAAAAATAAGTTATCTTCCTCTGCATCACTGCTGGAGTCAGGCTCTCCTTCTTTCAAAGCTGCCATCTCTATATGACGTGCTGTTGGATCACCTCCACCCAGAGGGTCTTCTGAAGTGGAGACAATTACTTCATTTGTTGGTACTGTTCCATTTAACACTACAGAATCACACTGGTTCAAAGGGCAAGCATCATCAGTTGCTGGAGACCCATGTTTTGCTTTTATGGTTTCTGGTTCAGAAGGCATGCATTTTATTAACTGTTTTCTGTTACTGTTGGCAAGTACCTCAGTTCCTCCTGTACAATTATAATCTGACCTATCAGATTCTGGTACAAATATGTCAGAATTCTGTGCTGTATGTGACCCTGCTCTTTTAACATCTGTACTTTCACAATCAGAAAGTCTTCGTCTATTTTTTTGTGATTTGGGTCTGATCTGCCTTTGCATCTGAAGTTCTTGACTAGTCAGAAGTTTCTTATTATTTCTGACAGACAGGTTCTGAGGAGAAATTAATTTAGTCTTTTTTCGGGTATCAACTACTCCAACAGTTTTGCCATGATCACGTAATTGAGCTACATAATCCAAAGACCGCTGGGACAACTCATATGCCTTACGAGGACCCTTTTTCAGGCCAAGTTTCTCAGCTGTTGAAGTTGGCTCAGGACACTGACGAAATTTCTTTGGCGGCACTATAGCAGGAGTTGTTCTACAACTTAGGTAATTTGAACTTCTATTCTGTCCTTTTTTGGCATCTGAATGAGTTTTCTTAGGGGTCTTAGAAACTGGAACTTTCCTGATGGGTTCTGTACAAGTACAAAGCTTTGAAGACTTCTTTTGTGAAACCGTAGTGGCTCTCTGAATACGTGAATTGGGAGTTGAAGTCCTTCTATCAATACTTTTAAAATCATTTCCCACAAGATCTCTCTTATTAGTATCAGACTGGCCCTCATTTCTGACAGAAGATGAAGGCCTCACAGGATCTTCAGCCATTGGTTTTTCAGATCGTTTTCTCTTAGGCTTTTTTACTTCAATTTCACAAAATTCTTCAACAGAAATACTCCGTGGTCTTGTGTGTTCTTCAATGCCCTCTGCTCCTTTTTTAACAACTTCAGATACATAATCTGTACAACCCTGACCATTTGTAGTATTGGCTATAGGAGCCAAACATTTTTTCTCACCATCTTGAACTGAATTATTATCGTCTGGATGATCTTGCCAAACTGAAAACACTTCAGATGAACTTTCAAACTCAAAACACTGAGAATCAGATTCCTCAAACTGAAAAAGAGTCTCTGTCTTTTCTTCCTTTACTGGATTCTTTTCCTCCTTACTATTAACTGTTGAAACGTGCTGCTCTGGATGTTCCCTCTCAAGGCATATTTTGTCCTGTTTAGTGAGTTTCTCAAGACTCAGGATTCTTTCATCATCATCATCATCAGAATCTGAAATAATAATAACCTGTCCACGGGAGGTATCTCCAACATTATTTTGGTTAGCTGTGAAACATCTTTTATCTTCTTTTACTTTCCTTTGCAGCTGCGATGAGTTCTGAGGTGAATCGGATGGGAACGTAATAACACTGGCTTGAGCTAGTAAAGATAATTTGTGAAGGTCTCTGTCTATCTGAGAATCCGTTAAGGTGTCAGATTTAGGACTGATGTCAGGGGCCTGTTCTCTTGTCAAGTTAGAATAAATCACACTGGTACTATTACTCATCTCCTCATCTCTTGATTCAGGTACAGTCATAAGATCTTTAAAGGGAGATGATTTCTTCTCTGAAGCATTGGTCATTTCTGTAAAAGGGATCAATTCTTTACCATCAACATGAAATTCCTGTATTTTACAATTGTTTTCATGGAAAGAGAAAATAACTAATTCTTCATTCTTTAATTGTTTCTCTTTTGGCAATACATTGTTTTGAGATTTTTGTTCTCCATTCTTATCATCCAGAACACCACTAGGGTCTAAAGAAAGATTGTGTATGAAACCATCTCCTTTCTGAACTCCTGTATCTTTCCTTGAATAGAAACTCTCAATGTTAGATACAGTCAAATTTTCATCTAAATTGATAGTATTATCGACCAAAGTACTCTTCCTGTGTTGCTTCTTTATTACATGTGATAACTTTGCACAGATTTCATCTTTCTGTACCTTAGTTTTTCGTTTTGAGGTTTTAGCAAGAGCATCATCCTTTAAAGAGAAATCTTCATTCGATGTGGACACTTTTTCCAAAGCATCAGTGCTAGAATCAGTCAACAAACGTGTTGATACTATTATTCCTCTGTCACATCCCCTTTCTGGACCATTTCTTGAAGTACAGTCCTTTGGTGTATATGAAGAGATCTCTTTTACAGACTTCTGCTTCCTTGTACTTATTTTAATTTGATCTTCAGCTCTTTCAGTAAAAATGTTTTTACTACTCTGCTTTAAGCATGACCCAGCTAAGAGATGGTCCTCTAGTTTCACATCCTTTATATAATTTTGCTCATTATTGTCACCTTCTATAGTGTTATCTGCTTTGATCAATACACTGTCTTGCACTTTCATTGGTTCTTTAGAAAATGTTGGGCTGGAAGCTTCCAAACAATGCATATCTTTTCTAGACGTCTTCCCCATTTGTTCACTTTCTTCTTTATTATAAGATGCAGGAGAGATTTTACATGCAGAAGTCAGATCCACAAAAGTGTTACATGGAGGTGCTTTGAATTTTATGTTTCTAATAATTTGCTTTAAGCAACTTTGTAGCTCATGGGTTTCCTGACTAGTCAACTGCCAACCTAGAGATAAATTTCCTCTAAGGAATAAGTTGAGCTTATCCCAGAATCGCTTGCAAAGAGACTGCTGCCCAAGCTGATAACCTTCTTTAAGGAGACTTCTAATCAGCTGCACATAAGCAAGTTGTACAGAGTTAGATGGCATGGAATGCAATGACAGTGAAGATATCATTGCTGTTCCTTTGGAGCAATTTCCAGATGATTTCTCAGAACTCCGTGTAAACGCAGTGGTAGGAAGCTTGGCACATTTGACGACGGCTTCCACCCATTGCTGGGAACTTACCCACAGCAAATGCAAACATTTTTTATTTCTATGCAGTTCAATCACTGATACCAAAATTAGAAGAAAAAATTCAGTGACTTTGTCACACACAGCATCTGTTTGGTTGAGGACTTCTTTGACTTCAGAGTACAGATGATTAACAACCTGTGCTATGTAAGCCACACCCAAATCCTTAAGATCCATGAGGGACTGGACAAAAGGGATGAACCATAGAAATGTGCTGTTATGAACACGCATG
|
ACAAATGAAACACATACTTACTGTTTCAAAAGTATTCAATACCATCAAAGGGAAAAAAACATTAAAATAATCTCCATAATTGTGAAATCTGACAGGCACAGGTCTTGAGATGGACTGACAAAGACTTGCAGGGGGCCCACACTGACCAAAGTTCAAAAACATTTCATATTTCCATTTTAAGACCTCTTTAACGAAGGTGTCAGAGACAGACTGTGATGACAAAAGAATGTTTACTGGAGAGGAAGATGGAAAATATTTGCTTTCACCAAATGGAACTTTGCAACCTTGCCTGTTGGAATTATTCGGAGACTGAGGATGAAGAACATTGCACGAATTCTTCATTTCACCAACTGGCTTCTGAGCTATGAGGGGAACTGGCTGTGGTACTTTCAAAATCGACTGTATCCCCTTTGACTTATTTTTTAGAGACGGTGAAAGTGCTGAAGAAGTTTCCAAAGATTTAGAAAGACCAGCAATTCGTGAAGTACTCTTTGAGCTAAAAATCTTAGTGGTAGGTCTCAAAGGTTTAGATGCAGGAGGAGGCAAGCCAGGTTTACGAAATACATCTTCATCTGCTGCTTTCACTTCAGAGTGTTTTGGGCAGTATTCACCCTGGTTTTTTGTGGTTTCAAGACAATCTTTGTACTTACACTTTGTGCCACTCAAAGATTCCAACTGAGGCCGACTTACAGAATCTTCTTCAACCTCAACTGTATCTTTTCCATGAATTAGTTCAATGAGTTTATAATTGTCATTCTCCATTTGTGAACATAAATCCATATCTTCAGGATCATTTTGGGTTAAAAATAAGTTATCTTCCTCTGCATCACTGCTGGAGTCAGGCTCTCCTTCTTTCAAAGCTGCCATCTCTATATGACGTGCTGTTGGATCACCTCCACCCAGAGGGTCTTCTGAAGTGGAGACAATTACTTCATTTGTTGGTACTGTTCCATTTAACACTACAGAATCACACTGGTTCAAAGGGCAAGCATCATCAGTTGCTGGAGACCCATGTTTTGCTTTTATGGTTTCTGGTTCAGAAGGCATGCATTTTATTAACTGTTTTCTGTTACTGTTGGCAAGTACCTCAGTTCCTCCTGTACAATTATAATCTGACCTATCAGATTCTGGTACAAATATGTCAGAATTCTGTGCTGTATGTGACCCTGCTCTTTTAACATCTGTACTTTCACAATCAGAAAGTCTTCGTCTATTTTTTTGTGATTTGGGTCTGATCTGCCTTTGCATCTGAAGTTCTTGACTAGTCAGAAGTTTCTTATTATTTCTGACAGACAGGTTCTGAGGAGAAATTAATTTAGTCTTTTTTCGGGTATCAACTACTCCAACAGTTTTGCCATGATCACGTAATTGAGCTACATAATCCAAAGACCGCTGGGACAACTCATATGCCTTACGAGGACCCTTTTTCAGGCCAAGTTTCTCAGCTGTTGAAGTTGGCTCAGGACACTGACGAAATTTCTTTGGCGGCACTATAGCAGGAGTTGTTCTACAACTTAGGTAATTTGAACTTCTATTCTGTCCTTTTTTGGCATCTGAATGAGTTTTCTTAGGGGTCTTAGAAACTGGAACTTTCCTGATGGGTTCTGTACAAGTACAAAGCTTTGAAGACTTCTTTTGTGAAACCGTAGTGGCTCTCTGAATACGTGAATTGGGAGTTGAAGTCCTTCTATCAATACTTTTAAAATCATTTCCCACAAGATCTCTCTTATTAGTATCAGACTGGCCCTCATTTCTGACAGAAGATGAAGGCCTCACAGGATCTTCAGCCATTGGTTTTTCAGATCGTTTTCTCTTAGGCTTTTTTACTTCAATTTCACAAAATTCTTCAACAGAAATACTCCGTGGTCTTGTGTGTTCTTCAATGCCCTCTGCTCCTTTTTTAACAACTTCAGATACATAATCTGTACAACCCTGACCATTTGTAGTATTGGCTATAGGAGCCAAACATTTTTTCTCACCATCTTGAACTGAATTATTATCGTCTGGATGATCTTGCCAAACTGAAAACACTTCAGATGAACTTTCAAGCTCAAAACACTGAGAATCAGATTCCTCAAACTGAAAAAGAGTCTCTGTCTTTTCTTCCTTTACTGGATTCTTTTCCTCCTTACTATTAACTGTTGAAACGTGCTGCTCTGGATGTTCCCTCTCAAGGCATATTTTGTCCTGTTTAGTGAGTTTCTCAAGACTCAGGATTCTTTCATCATCATCATCATCAGAATCTGAAATAATAATAACCTGTCCACGGGAGGTATCTCCAACATTATTTTGGTTAGCTGTGAAACATCTTTTATCTTCTTTTACTTTCCTTTGCAGCTGCGATGAGTTCTGAGGTGAATCGGATGGGAACGTAATAACACTGGCTTGAGCTAGTAAAGATAATTTGTGAAGGTCTCTGTCTATCTGAGAATCCGTTAAGGTGTCAGATTTAGGACTGATGTCAGGGGCCTGTTCTCTTGTCAAGTTAGAATAAATCACACTGGTACTATTACTCATCTCCTCATCTCTTGATTCAGGTACAGTCATAAGATCTTTAAAGGGAGATGATTTCTTCTCTGAAGCATTGGTCATTTCTGTAAAAGGGATCAATTCTTTACCATCAACATGAAATTCCTGTATTTTACAATTGTTTTCATGGAAAGAGAAAATAACTAATTCTTCATTCTTTAATTGTTTCTCTTTTGGCAATACATTGTTTTGAGATTTTTGTTCTCCATTCTTATCATCCAGAACACCACTAGGGTCTAAAGAAAGATTGTGTATGAAACCATCTCCTTTCTGAACTCCTGTATCTTTCCTTGAATAGAAACTCTCAATGTTAGATACAGTCAAATTTTCATCTAAATTGATAGTATTATCGACCAAAGTACTCTTCCTGTGTTGCTTCTTTATTACATGTGATAACTTTGCACAGATTTCATCTTTCTGTACCTTAGTTTTTCGTTTTGAGGTTTTAGCAAGAGCATCATCCTTTAAAGAGAAATCTTCATTCGATGTGGACACTTTTTCCAAAGCATCAGTGCTAGAATCAGTCAACAAACGTGTTGATACTATTATTCCTCTGTCACATCCCCTTTCTGGACCATTTCTTGAAGTACAGTCCTTTGGTGTATATGAAGAGATCTCTTTTACAGACTTCTGCTTCCTTGTACTTATTTTAATTTGATCTTCAGCTCTTTCAGTAAAAATGTTTTTACTACTCTGCTTTAAGCATGACCCAGCTAAGAGATGGTCCTCTAGTTTCACATCCTTTATATAATTTTGCTCATTATTGTCACCTTCTATAGTGTTATCTGCTTTGATCAATACACTGTCTTGCACTTTCATTGGTTCTTTAGAAAATGTTGGGCTGGAAGCTTCCAAACAATGCATATCTTTTCTAGACGTCTTCCCCATTTGTTCACTTTCTTCTTTATTATAAGATGCAGGAGAGATTTTACATGCAGAAGTCAGATCCACAAAAGTGTTACATGGAGGTGCTTTGAATTTTATGTTTCTAATAATTTGCTTTAAGCAACTTTGTAGCTCATGGGTTTCCTGACTAGTCAACTGCCAACCTAGAGATAAATTTCCTCTAAGGAATAAGTTGAGCTTATCCCAGAATCGCTTGCAAAGAGACTGCTGCCCAAGCTGATAACCTTCTTTAAGGAGACTTCTAATCAGCTGCACATAAGCAAGTTGTACAGAGTTAGATGGCATGGAATGCAATGACAGTGAAGATATCATTGCTGTTCCTTTGGAGCAATTTCCAGATGATTTCTCAGAACTCCGTGTAAACGCAGTGGTAGGAAGCTTGGCACATTTGACGACGGCTTCCACCCATTGCTGGGAACTTACCCACAGCAAATGCAAACATTTTTTATTTCTATGCAGTTCAATCACTGATACCAAAATTAGAAGAAAAAATTCAGTGACTTTGTCACACACAGCATCTGTTTGGTTGAGGACTTCTTTGACTTCAGAGTACAGATGATTAACAACCTGTGCTATGTAAGCCACACCCAAATCCTTAAGATCCATGAGGGACTGGACAAAAGGGATGAACCATAGAAATGTGCTGTTATGAACACGCATG
|
Task1_train_13402
|
This variant lies on Chromosome 9 and affects the gene SETX (senataxin). Based on this context, is the mutation pathogenic or benign? If pathogenic, what disease does it cause?
|
Pathogenic; Amyotrophic lateral sclerosis type 4
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ATGAAGGCCTCACAGGATCTTCAGCCATTGGTTTTTCAGATCGTTTTCTCTTAGGCTTTTTTACTTCAATTTCACAAAATTCTTCAACAGAAATACTCCGTGGTCTTGTGTGTTCTTCAATGCCCTCTGCTCCTTTTTTAACAACTTCAGATACATAATCTGTACAACCCTGACCATTTGTAGTATTGGCTATAGGAGCCAAACATTTTTTCTCACCATCTTGAACTGAATTATTATCGTCTGGATGATCTTGCCAAACTGAAAACACTTCAGATGAACTTTCAAACTCAAAACACTGAGAATCAGATTCCTCAAACTGAAAAAGAGTCTCTGTCTTTTCTTCCTTTACTGGATTCTTTTCCTCCTTACTATTAACTGTTGAAACGTGCTGCTCTGGATGTTCCCTCTCAAGGCATATTTTGTCCTGTTTAGTGAGTTTCTCAAGACTCAGGATTCTTTCATCATCATCATCATCAGAATCTGAAATAATAATAACCTGTCCACGGGAGGTATCTCCAACATTATTTTGGTTAGCTGTGAAACATCTTTTATCTTCTTTTACTTTCCTTTGCAGCTGCGATGAGTTCTGAGGTGAATCGGATGGGAACGTAATAACACTGGCTTGAGCTAGTAAAGATAATTTGTGAAGGTCTCTGTCTATCTGAGAATCCGTTAAGGTGTCAGATTTAGGACTGATGTCAGGGGCCTGTTCTCTTGTCAAGTTAGAATAAATCACACTGGTACTATTACTCATCTCCTCATCTCTTGATTCAGGTACAGTCATAAGATCTTTAAAGGGAGATGATTTCTTCTCTGAAGCATTGGTCATTTCTGTAAAAGGGATCAATTCTTTACCATCAACATGAAATTCCTGTATTTTACAATTGTTTTCATGGAAAGAGAAAATAACTAATTCTTCATTCTTTAATTGTTTCTCTTTTGGCAATACATTGTTTTGAGATTTTTGTTCTCCATTCTTATCATCCAGAACACCACTAGGGTCTAAAGAAAGATTGTGTATGAAACCATCTCCTTTCTGAACTCCTGTATCTTTCCTTGAATAGAAACTCTCAATGTTAGATACAGTCAAATTTTCATCTAAATTGATAGTATTATCGACCAAAGTACTCTTCCTGTGTTGCTTCTTTATTACATGTGATAACTTTGCACAGATTTCATCTTTCTGTACCTTAGTTTTTCGTTTTGAGGTTTTAGCAAGAGCATCATCCTTTAAAGAGAAATCTTCATTCGATGTGGACACTTTTTCCAAAGCATCAGTGCTAGAATCAGTCAACAAACGTGTTGATACTATTATTCCTCTGTCACATCCCCTTTCTGGACCATTTCTTGAAGTACAGTCCTTTGGTGTATATGAAGAGATCTCTTTTACAGACTTCTGCTTCCTTGTACTTATTTTAATTTGATCTTCAGCTCTTTCAGTAAAAATGTTTTTACTACTCTGCTTTAAGCATGACCCAGCTAAGAGATGGTCCTCTAGTTTCACATCCTTTATATAATTTTGCTCATTATTGTCACCTTCTATAGTGTTATCTGCTTTGATCAATACACTGTCTTGCACTTTCATTGGTTCTTTAGAAAATGTTGGGCTGGAAGCTTCCAAACAATGCATATCTTTTCTAGACGTCTTCCCCATTTGTTCACTTTCTTCTTTATTATAAGATGCAGGAGAGATTTTACATGCAGAAGTCAGATCCACAAAAGTGTTACATGGAGGTGCTTTGAATTTTATGTTTCTAATAATTTGCTTTAAGCAACTTTGTAGCTCATGGGTTTCCTGACTAGTCAACTGCCAACCTAGAGATAAATTTCCTCTAAGGAATAAGTTGAGCTTATCCCAGAATCGCTTGCAAAGAGACTGCTGCCCAAGCTGATAACCTTCTTTAAGGAGACTTCTAATCAGCTGCACATAAGCAAGTTGTACAGAGTTAGATGGCATGGAATGCAATGACAGTGAAGATATCATTGCTGTTCCTTTGGAGCAATTTCCAGATGATTTCTCAGAACTCCGTGTAAACGCAGTGGTAGGAAGCTTGGCACATTTGACGACGGCTTCCACCCATTGCTGGGAACTTACCCACAGCAAATGCAAACATTTTTTATTTCTATGCAGTTCAATCACTGATACCAAAATTAGAAGAAAAAATTCAGTGACTTTGTCACACACAGCATCTGTTTGGTTGAGGACTTCTTTGACTTCAGAGTACAGATGATTAACAACCTGTGCTATGTAAGCCACACCCAAATCCTTAAGATCCATGAGGGACTGGACAAAAGGGATGAACCATAGAAATGTGCTGTTATGAACACGCATGTCTTGACCAATATCTGACTGAAGTACACTGGCTAATGTTTCCATTTCTTCATACATGTTAGGACAATAATCTGGGCAAATGGCTGTTCTCCATCCAGAATCCTAAAATGAAAGAAATGCTGATGTTCAGATAAATAAGCACCACTTATGACAGGTTCAACACCCAAGTCGTTAAGAAAAATACGTTTCTCAACTCTCTTATTTTGGTTTACCACATCATTATTATGCTATACAATGGTATAATTGTGGCATATAATTATATCACAATCGTAATACACCTAACTCCCAAGAAAGTGAAAATATAAATTGAATTTTGAGTTTTCATAAAAAGACAAATTGGTAACACCTTTATGTACTCTCACCTTCTGTCCACTAGCTAGTTTTGATTTCTAGTCATGCCATGTATGTCCCCATAAACTTTCCATCTTCCCTAAATGTACTTATAAGTTAATTTTCCAAAGTATGCATACTGTAGTTAGAGTCCATCTTCCCCAACACACAATACATCTGCTGTTCAATGAGAAGGGCTTTTACATAGCAGTAGATTGAGAACAGCTACATATCACAAAATCTGCAACTCAACAAATTATACAAAATAGTCTACACAATATAAAGGCAATAAAATAGCATCTGAATTTTCAAAGTGTTTTATACCTTTTTGGTCTTTTCAGGATTATAATTGTATACGATCTGGCTGCAAGTCACCATATCATCCAAATAGGACTCCGGTTCTAACTTGGTCCTTAAATATTAAGAATAAATAGAAATTACTGAAACGAAGGGGGAAAAAAAGGAAGAAACACCTCTTGTTAAGTAATCTAGCTGGAACACACTTTCTTATAGAGATGATGTTTAAATCCTGACATTAGCTGAACTAACCTTACAGAGCTGTTCCGTATATGTCGGATCTCTCTATTGTAGCTTGCGTTGTTGATAATGGTTTGAAATGCCACAATAGGATCCATAAGTTGACCCCAGACCTTAGATCCAAGGCGATCCAGAATCACCATAAAACAGTGTAACGCTGGCCAGAAAGGATCCACACTATCATCTGAAATACAATGGCACAATCGTTGAATTACTAAACAGTTAGAAAAACATACTACAATATATTGAGAATTAAGCATATTCTTTATCTGGTGAGTAGCAACCCAACTAAAAGCCAAGGAGCAAATAATTTAAAGCAGTGCCGCCACCAGTCCTCAGACACACAGAGGGTTTCAAAAGCAGCCACATTTTCAAGATTTTTTGCAAGCAATACTATGATACGTCTGTAAAAAAAAAAAAAAATTTAGTGGCAAACAAATTACTTAATGGGCAAGAAAACAGTCTAGGTAAGCACAATCTTTTCACACCCTGTTTGCCATACCAGAAACAACCTTTTCTAATTCAGCTCCTCAACCCCTGCCAAAACTTTGTAGTCCCATCCTCCAATAACTAACAGAAAAGAAGAGGAAAAAAATAAAGGAAAGAGAAAGAAACTTGGTATTTACAGATCTACATGAAGCCCATAATACAAGAAATTCTCTTTCAGCATCATCCTGAATTTTGTGTCACGCATCTAGTGTAAATGACTAAATTCTTTAGCTAAGGAATAAGGCAAAGATACACTCTTCATCCATCTGTATCTCAACATGGCTTTGCTGTTCTCTACTTTTCATCCAACCTCCTGCTTCTCTATCAAATATGCAGTAGCAAGATACCGCCCTACTCAAAGACCTTCAATGGATACTTAATGTCTTCCAAGAAAATTCAAAATCCTCA
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ATGAAGGCCTCACAGGATCTTCAGCCATTGGTTTTTCAGATCGTTTTCTCTTAGGCTTTTTTACTTCAATTTCACAAAATTCTTCAACAGAAATACTCCGTGGTCTTGTGTGTTCTTCAATGCCCTCTGCTCCTTTTTTAACAACTTCAGATACATAATCTGTACAACCCTGACCATTTGTAGTATTGGCTATAGGAGCCAAACATTTTTTCTCACCATCTTGAACTGAATTATTATCGTCTGGATGATCTTGCCAAACTGAAAACACTTCAGATGAACTTTCAAACTCAAAACACTGAGAATCAGATTCCTCAAACTGAAAAAGAGTCTCTGTCTTTTCTTCCTTTACTGGATTCTTTTCCTCCTTACTATTAACTGTTGAAACGTGCTGCTCTGGATGTTCCCTCTCAAGGCATATTTTGTCCTGTTTAGTGAGTTTCTCAAGACTCAGGATTCTTTCATCATCATCATCATCAGAATCTGAAATAATAATAACCTGTCCACGGGAGGTATCTCCAACATTATTTTGGTTAGCTGTGAAACATCTTTTATCTTCTTTTACTTTCCTTTGCAGCTGCGATGAGTTCTGAGGTGAATCGGATGGGAACGTAATAACACTGGCTTGAGCTAGTAAAGATAATTTGTGAAGGTCTCTGTCTATCTGAGAATCCGTTAAGGTGTCAGATTTAGGACTGATGTCAGGGGCCTGTTCTCTTGTCAAGTTAGAATAAATCACACTGGTACTATTACTCATCTCCTCATCTCTTGATTCAGGTACAGTCATAAGATCTTTAAAGGGAGATGATTTCTTCTCTGAAGCATTGGTCATTTCTGTAAAAGGGATCAATTCTTTACCATCAACATGAAATTCCTGTATTTTACAATTGTTTTCATGGAAAGAGAAAATAACTAATTCTTCATTCTTTAATTGTTTCTCTTTTGGCAATACATTGTTTTGAGATTTTTGTTCTCCATTCTTATCATCCAGAACACCACTAGGGTCTAAAGAAAGATTGTGTATGAAACCATCTCCTTTCTGAACTCCTGTATCTTTCCTTGAATAGAAACTCTCAATGTTAGATACAGTCAAATTTTCATCTAAATTGATAGTATTATCGACCAAAGTACTCTTCCTGTGTTGCTTCTTTATTACATGTGATAACTTTGCACAGATTTCATCTTTCTGTACCTTAGTTTTTCGTTTTGAGGTTTTAGCAAGAGCATCATCCTTTAAAGAGAAATCTTCATTCGATGTGGACACTTTTTCCAAAGCATCAGTGCTAGAATCAGTCAACAAACGTGTTGATACTATTATTCCTCTGTCACATCCCCTTTCTGGACCATTTCTTGAAGTACAGTCCTTTGGTGTATATGAAGAGATCTCTTTTACAGACTTCTGCTTCCTTGTACTTATTTTAATTTGATCTTCAGCTCTTTCAGTAAAAATGTTTTTACTACTCTGCTTTAAGCATGACCCAGCTAAGAGATGGTCCTCTAGTTTCACATCCTTTATATAATTTTGCTCATTATTGTCACCTTCTATAGTGTTATCTGCTTTGATCAATACACTGTCTTGCACTTTCATTGGTTCTTTAGAAAATGTTGGGCTGGAAGCTTCCAAACAATGCATATCTTTTCTAGACGTCTTCCCCATTTGTTCACTTTCTTCTTTATTATAAGATGCAGGAGAGATTTTACATGCAGAAGTCAGATCCACAAAAGTGTTACATGGAGGTGCTTTGAATTTTATGTTTCTAATAATTTGCTTTAAGCAACTTTGTAGCTCATGGGTTTCCTGACTAGTCAACTGCCAACCTAGAGATAAATTTCCTCTAAGGAATAAGTTGAGCTTATCCCAGAATCGCTTGCAAAGAGACTGCTGCCCAAGCTGATAACCTTCTTTAAGGAGACTTCTAATCAGCTGCACATAAGCAAGTTGTACAGAGTTAGATGGCATGGAATGCAATGACAGTGAAGATATCATTGCTGTTCCTTTGGAGCAATTTCCAGATGATTTCTCAGAACTCCGTGTAAACGCAGTGGTAGGAGGCTTGGCACATTTGACGACGGCTTCCACCCATTGCTGGGAACTTACCCACAGCAAATGCAAACATTTTTTATTTCTATGCAGTTCAATCACTGATACCAAAATTAGAAGAAAAAATTCAGTGACTTTGTCACACACAGCATCTGTTTGGTTGAGGACTTCTTTGACTTCAGAGTACAGATGATTAACAACCTGTGCTATGTAAGCCACACCCAAATCCTTAAGATCCATGAGGGACTGGACAAAAGGGATGAACCATAGAAATGTGCTGTTATGAACACGCATGTCTTGACCAATATCTGACTGAAGTACACTGGCTAATGTTTCCATTTCTTCATACATGTTAGGACAATAATCTGGGCAAATGGCTGTTCTCCATCCAGAATCCTAAAATGAAAGAAATGCTGATGTTCAGATAAATAAGCACCACTTATGACAGGTTCAACACCCAAGTCGTTAAGAAAAATACGTTTCTCAACTCTCTTATTTTGGTTTACCACATCATTATTATGCTATACAATGGTATAATTGTGGCATATAATTATATCACAATCGTAATACACCTAACTCCCAAGAAAGTGAAAATATAAATTGAATTTTGAGTTTTCATAAAAAGACAAATTGGTAACACCTTTATGTACTCTCACCTTCTGTCCACTAGCTAGTTTTGATTTCTAGTCATGCCATGTATGTCCCCATAAACTTTCCATCTTCCCTAAATGTACTTATAAGTTAATTTTCCAAAGTATGCATACTGTAGTTAGAGTCCATCTTCCCCAACACACAATACATCTGCTGTTCAATGAGAAGGGCTTTTACATAGCAGTAGATTGAGAACAGCTACATATCACAAAATCTGCAACTCAACAAATTATACAAAATAGTCTACACAATATAAAGGCAATAAAATAGCATCTGAATTTTCAAAGTGTTTTATACCTTTTTGGTCTTTTCAGGATTATAATTGTATACGATCTGGCTGCAAGTCACCATATCATCCAAATAGGACTCCGGTTCTAACTTGGTCCTTAAATATTAAGAATAAATAGAAATTACTGAAACGAAGGGGGAAAAAAAGGAAGAAACACCTCTTGTTAAGTAATCTAGCTGGAACACACTTTCTTATAGAGATGATGTTTAAATCCTGACATTAGCTGAACTAACCTTACAGAGCTGTTCCGTATATGTCGGATCTCTCTATTGTAGCTTGCGTTGTTGATAATGGTTTGAAATGCCACAATAGGATCCATAAGTTGACCCCAGACCTTAGATCCAAGGCGATCCAGAATCACCATAAAACAGTGTAACGCTGGCCAGAAAGGATCCACACTATCATCTGAAATACAATGGCACAATCGTTGAATTACTAAACAGTTAGAAAAACATACTACAATATATTGAGAATTAAGCATATTCTTTATCTGGTGAGTAGCAACCCAACTAAAAGCCAAGGAGCAAATAATTTAAAGCAGTGCCGCCACCAGTCCTCAGACACACAGAGGGTTTCAAAAGCAGCCACATTTTCAAGATTTTTTGCAAGCAATACTATGATACGTCTGTAAAAAAAAAAAAAAATTTAGTGGCAAACAAATTACTTAATGGGCAAGAAAACAGTCTAGGTAAGCACAATCTTTTCACACCCTGTTTGCCATACCAGAAACAACCTTTTCTAATTCAGCTCCTCAACCCCTGCCAAAACTTTGTAGTCCCATCCTCCAATAACTAACAGAAAAGAAGAGGAAAAAAATAAAGGAAAGAGAAAGAAACTTGGTATTTACAGATCTACATGAAGCCCATAATACAAGAAATTCTCTTTCAGCATCATCCTGAATTTTGTGTCACGCATCTAGTGTAAATGACTAAATTCTTTAGCTAAGGAATAAGGCAAAGATACACTCTTCATCCATCTGTATCTCAACATGGCTTTGCTGTTCTCTACTTTTCATCCAACCTCCTGCTTCTCTATCAAATATGCAGTAGCAAGATACCGCCCTACTCAAAGACCTTCAATGGATACTTAATGTCTTCCAAGAAAATTCAAAATCCTCA
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Task1_train_13403
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This variant lies on Chromosome 9 and affects the gene SETX (senataxin). Based on this context, is the mutation pathogenic or benign? If pathogenic, what disease does it cause?
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Pathogenic; Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2
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ATGAAGGCCTCACAGGATCTTCAGCCATTGGTTTTTCAGATCGTTTTCTCTTAGGCTTTTTTACTTCAATTTCACAAAATTCTTCAACAGAAATACTCCGTGGTCTTGTGTGTTCTTCAATGCCCTCTGCTCCTTTTTTAACAACTTCAGATACATAATCTGTACAACCCTGACCATTTGTAGTATTGGCTATAGGAGCCAAACATTTTTTCTCACCATCTTGAACTGAATTATTATCGTCTGGATGATCTTGCCAAACTGAAAACACTTCAGATGAACTTTCAAACTCAAAACACTGAGAATCAGATTCCTCAAACTGAAAAAGAGTCTCTGTCTTTTCTTCCTTTACTGGATTCTTTTCCTCCTTACTATTAACTGTTGAAACGTGCTGCTCTGGATGTTCCCTCTCAAGGCATATTTTGTCCTGTTTAGTGAGTTTCTCAAGACTCAGGATTCTTTCATCATCATCATCATCAGAATCTGAAATAATAATAACCTGTCCACGGGAGGTATCTCCAACATTATTTTGGTTAGCTGTGAAACATCTTTTATCTTCTTTTACTTTCCTTTGCAGCTGCGATGAGTTCTGAGGTGAATCGGATGGGAACGTAATAACACTGGCTTGAGCTAGTAAAGATAATTTGTGAAGGTCTCTGTCTATCTGAGAATCCGTTAAGGTGTCAGATTTAGGACTGATGTCAGGGGCCTGTTCTCTTGTCAAGTTAGAATAAATCACACTGGTACTATTACTCATCTCCTCATCTCTTGATTCAGGTACAGTCATAAGATCTTTAAAGGGAGATGATTTCTTCTCTGAAGCATTGGTCATTTCTGTAAAAGGGATCAATTCTTTACCATCAACATGAAATTCCTGTATTTTACAATTGTTTTCATGGAAAGAGAAAATAACTAATTCTTCATTCTTTAATTGTTTCTCTTTTGGCAATACATTGTTTTGAGATTTTTGTTCTCCATTCTTATCATCCAGAACACCACTAGGGTCTAAAGAAAGATTGTGTATGAAACCATCTCCTTTCTGAACTCCTGTATCTTTCCTTGAATAGAAACTCTCAATGTTAGATACAGTCAAATTTTCATCTAAATTGATAGTATTATCGACCAAAGTACTCTTCCTGTGTTGCTTCTTTATTACATGTGATAACTTTGCACAGATTTCATCTTTCTGTACCTTAGTTTTTCGTTTTGAGGTTTTAGCAAGAGCATCATCCTTTAAAGAGAAATCTTCATTCGATGTGGACACTTTTTCCAAAGCATCAGTGCTAGAATCAGTCAACAAACGTGTTGATACTATTATTCCTCTGTCACATCCCCTTTCTGGACCATTTCTTGAAGTACAGTCCTTTGGTGTATATGAAGAGATCTCTTTTACAGACTTCTGCTTCCTTGTACTTATTTTAATTTGATCTTCAGCTCTTTCAGTAAAAATGTTTTTACTACTCTGCTTTAAGCATGACCCAGCTAAGAGATGGTCCTCTAGTTTCACATCCTTTATATAATTTTGCTCATTATTGTCACCTTCTATAGTGTTATCTGCTTTGATCAATACACTGTCTTGCACTTTCATTGGTTCTTTAGAAAATGTTGGGCTGGAAGCTTCCAAACAATGCATATCTTTTCTAGACGTCTTCCCCATTTGTTCACTTTCTTCTTTATTATAAGATGCAGGAGAGATTTTACATGCAGAAGTCAGATCCACAAAAGTGTTACATGGAGGTGCTTTGAATTTTATGTTTCTAATAATTTGCTTTAAGCAACTTTGTAGCTCATGGGTTTCCTGACTAGTCAACTGCCAACCTAGAGATAAATTTCCTCTAAGGAATAAGTTGAGCTTATCCCAGAATCGCTTGCAAAGAGACTGCTGCCCAAGCTGATAACCTTCTTTAAGGAGACTTCTAATCAGCTGCACATAAGCAAGTTGTACAGAGTTAGATGGCATGGAATGCAATGACAGTGAAGATATCATTGCTGTTCCTTTGGAGCAATTTCCAGATGATTTCTCAGAACTCCGTGTAAACGCAGTGGTAGGAAGCTTGGCACATTTGACGACGGCTTCCACCCATTGCTGGGAACTTACCCACAGCAAATGCAAACATTTTTTATTTCTATGCAGTTCAATCACTGATACCAAAATTAGAAGAAAAAATTCAGTGACTTTGTCACACACAGCATCTGTTTGGTTGAGGACTTCTTTGACTTCAGAGTACAGATGATTAACAACCTGTGCTATGTAAGCCACACCCAAATCCTTAAGATCCATGAGGGACTGGACAAAAGGGATGAACCATAGAAATGTGCTGTTATGAACACGCATGTCTTGACCAATATCTGACTGAAGTACACTGGCTAATGTTTCCATTTCTTCATACATGTTAGGACAATAATCTGGGCAAATGGCTGTTCTCCATCCAGAATCCTAAAATGAAAGAAATGCTGATGTTCAGATAAATAAGCACCACTTATGACAGGTTCAACACCCAAGTCGTTAAGAAAAATACGTTTCTCAACTCTCTTATTTTGGTTTACCACATCATTATTATGCTATACAATGGTATAATTGTGGCATATAATTATATCACAATCGTAATACACCTAACTCCCAAGAAAGTGAAAATATAAATTGAATTTTGAGTTTTCATAAAAAGACAAATTGGTAACACCTTTATGTACTCTCACCTTCTGTCCACTAGCTAGTTTTGATTTCTAGTCATGCCATGTATGTCCCCATAAACTTTCCATCTTCCCTAAATGTACTTATAAGTTAATTTTCCAAAGTATGCATACTGTAGTTAGAGTCCATCTTCCCCAACACACAATACATCTGCTGTTCAATGAGAAGGGCTTTTACATAGCAGTAGATTGAGAACAGCTACATATCACAAAATCTGCAACTCAACAAATTATACAAAATAGTCTACACAATATAAAGGCAATAAAATAGCATCTGAATTTTCAAAGTGTTTTATACCTTTTTGGTCTTTTCAGGATTATAATTGTATACGATCTGGCTGCAAGTCACCATATCATCCAAATAGGACTCCGGTTCTAACTTGGTCCTTAAATATTAAGAATAAATAGAAATTACTGAAACGAAGGGGGAAAAAAAGGAAGAAACACCTCTTGTTAAGTAATCTAGCTGGAACACACTTTCTTATAGAGATGATGTTTAAATCCTGACATTAGCTGAACTAACCTTACAGAGCTGTTCCGTATATGTCGGATCTCTCTATTGTAGCTTGCGTTGTTGATAATGGTTTGAAATGCCACAATAGGATCCATAAGTTGACCCCAGACCTTAGATCCAAGGCGATCCAGAATCACCATAAAACAGTGTAACGCTGGCCAGAAAGGATCCACACTATCATCTGAAATACAATGGCACAATCGTTGAATTACTAAACAGTTAGAAAAACATACTACAATATATTGAGAATTAAGCATATTCTTTATCTGGTGAGTAGCAACCCAACTAAAAGCCAAGGAGCAAATAATTTAAAGCAGTGCCGCCACCAGTCCTCAGACACACAGAGGGTTTCAAAAGCAGCCACATTTTCAAGATTTTTTGCAAGCAATACTATGATACGTCTGTAAAAAAAAAAAAAAATTTAGTGGCAAACAAATTACTTAATGGGCAAGAAAACAGTCTAGGTAAGCACAATCTTTTCACACCCTGTTTGCCATACCAGAAACAACCTTTTCTAATTCAGCTCCTCAACCCCTGCCAAAACTTTGTAGTCCCATCCTCCAATAACTAACAGAAAAGAAGAGGAAAAAAATAAAGGAAAGAGAAAGAAACTTGGTATTTACAGATCTACATGAAGCCCATAATACAAGAAATTCTCTTTCAGCATCATCCTGAATTTTGTGTCACGCATCTAGTGTAAATGACTAAATTCTTTAGCTAAGGAATAAGGCAAAGATACACTCTTCATCCATCTGTATCTCAACATGGCTTTGCTGTTCTCTACTTTTCATCCAACCTCCTGCTTCTCTATCAAATATGCAGTAGCAAGATACCGCCCTACTCAAAGACCTTCAATGGATACTTAATGTCTTCCAAGAAAATTCAAAATCCTCA
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ATGAAGGCCTCACAGGATCTTCAGCCATTGGTTTTTCAGATCGTTTTCTCTTAGGCTTTTTTACTTCAATTTCACAAAATTCTTCAACAGAAATACTCCGTGGTCTTGTGTGTTCTTCAATGCCCTCTGCTCCTTTTTTAACAACTTCAGATACATAATCTGTACAACCCTGACCATTTGTAGTATTGGCTATAGGAGCCAAACATTTTTTCTCACCATCTTGAACTGAATTATTATCGTCTGGATGATCTTGCCAAACTGAAAACACTTCAGATGAACTTTCAAACTCAAAACACTGAGAATCAGATTCCTCAAACTGAAAAAGAGTCTCTGTCTTTTCTTCCTTTACTGGATTCTTTTCCTCCTTACTATTAACTGTTGAAACGTGCTGCTCTGGATGTTCCCTCTCAAGGCATATTTTGTCCTGTTTAGTGAGTTTCTCAAGACTCAGGATTCTTTCATCATCATCATCATCAGAATCTGAAATAATAATAACCTGTCCACGGGAGGTATCTCCAACATTATTTTGGTTAGCTGTGAAACATCTTTTATCTTCTTTTACTTTCCTTTGCAGCTGCGATGAGTTCTGAGGTGAATCGGATGGGAACGTAATAACACTGGCTTGAGCTAGTAAAGATAATTTGTGAAGGTCTCTGTCTATCTGAGAATCCGTTAAGGTGTCAGATTTAGGACTGATGTCAGGGGCCTGTTCTCTTGTCAAGTTAGAATAAATCACACTGGTACTATTACTCATCTCCTCATCTCTTGATTCAGGTACAGTCATAAGATCTTTAAAGGGAGATGATTTCTTCTCTGAAGCATTGGTCATTTCTGTAAAAGGGATCAATTCTTTACCATCAACATGAAATTCCTGTATTTTACAATTGTTTTCATGGAAAGAGAAAATAACTAATTCTTCATTCTTTAATTGTTTCTCTTTTGGCAATACATTGTTTTGAGATTTTTGTTCTCCATTCTTATCATCCAGAACACCACTAGGGTCTAAAGAAAGATTGTGTATGAAACCATCTCCTTTCTGAACTCCTGTATCTTTCCTTGAATAGAAACTCTCAATGTTAGATACAGTCAAATTTTCATCTAAATTGATAGTATTATCGACCAAAGTACTCTTCCTGTGTTGCTTCTTTATTACATGTGATAACTTTGCACAGATTTCATCTTTCTGTACCTTAGTTTTTCGTTTTGAGGTTTTAGCAAGAGCATCATCCTTTAAAGAGAAATCTTCATTCGATGTGGACACTTTTTCCAAAGCATCAGTGCTAGAATCAGTCAACAAACGTGTTGATACTATTATTCCTCTGTCACATCCCCTTTCTGGACCATTTCTTGAAGTACAGTCCTTTGGTGTATATGAAGAGATCTCTTTTACAGACTTCTGCTTCCTTGTACTTATTTTAATTTGATCTTCAGCTCTTTCAGTAAAAATGTTTTTACTACTCTGCTTTAAGCATGACCCAGCTAAGAGATGGTCCTCTAGTTTCACATCCTTTATATAATTTTGCTCATTATTGTCACCTTCTATAGTGTTATCTGCTTTGATCAATACACTGTCTTGCACTTTCATTGGTTCTTTAGAAAATGTTGGGCTGGAAGCTTCCAAACAATGCATATCTTTTCTAGACGTCTTCCCCATTTGTTCACTTTCTTCTTTATTATAAGATGCAGGAGAGATTTTACATGCAGAAGTCAGATCCACAAAAGTGTTACATGGAGGTGCTTTGAATTTTATGTTTCTAATAATTTGCTTTAAGCAACTTTGTAGCTCATGGGTTTCCTGACTAGTCAACTGCCAACCTAGAGATAAATTTCCTCTAAGGAATAAGTTGAGCTTATCCCAGAATCGCTTGCAAAGAGACTGCTGCCCAAGCTGATAACCTTCTTTAAGGAGACTTCTAATCAGCTGCACATAAGCAAGTTGTACAGAGTTAGATGGCATGGAATGCAATGACAGTGAAGATATCATTGCTGTTCCTTTGGAGCAATTTCCAGATGATTTCTCAGAACTCCGTGTAAACGCAGTGGTAGGAGGCTTGGCACATTTGACGACGGCTTCCACCCATTGCTGGGAACTTACCCACAGCAAATGCAAACATTTTTTATTTCTATGCAGTTCAATCACTGATACCAAAATTAGAAGAAAAAATTCAGTGACTTTGTCACACACAGCATCTGTTTGGTTGAGGACTTCTTTGACTTCAGAGTACAGATGATTAACAACCTGTGCTATGTAAGCCACACCCAAATCCTTAAGATCCATGAGGGACTGGACAAAAGGGATGAACCATAGAAATGTGCTGTTATGAACACGCATGTCTTGACCAATATCTGACTGAAGTACACTGGCTAATGTTTCCATTTCTTCATACATGTTAGGACAATAATCTGGGCAAATGGCTGTTCTCCATCCAGAATCCTAAAATGAAAGAAATGCTGATGTTCAGATAAATAAGCACCACTTATGACAGGTTCAACACCCAAGTCGTTAAGAAAAATACGTTTCTCAACTCTCTTATTTTGGTTTACCACATCATTATTATGCTATACAATGGTATAATTGTGGCATATAATTATATCACAATCGTAATACACCTAACTCCCAAGAAAGTGAAAATATAAATTGAATTTTGAGTTTTCATAAAAAGACAAATTGGTAACACCTTTATGTACTCTCACCTTCTGTCCACTAGCTAGTTTTGATTTCTAGTCATGCCATGTATGTCCCCATAAACTTTCCATCTTCCCTAAATGTACTTATAAGTTAATTTTCCAAAGTATGCATACTGTAGTTAGAGTCCATCTTCCCCAACACACAATACATCTGCTGTTCAATGAGAAGGGCTTTTACATAGCAGTAGATTGAGAACAGCTACATATCACAAAATCTGCAACTCAACAAATTATACAAAATAGTCTACACAATATAAAGGCAATAAAATAGCATCTGAATTTTCAAAGTGTTTTATACCTTTTTGGTCTTTTCAGGATTATAATTGTATACGATCTGGCTGCAAGTCACCATATCATCCAAATAGGACTCCGGTTCTAACTTGGTCCTTAAATATTAAGAATAAATAGAAATTACTGAAACGAAGGGGGAAAAAAAGGAAGAAACACCTCTTGTTAAGTAATCTAGCTGGAACACACTTTCTTATAGAGATGATGTTTAAATCCTGACATTAGCTGAACTAACCTTACAGAGCTGTTCCGTATATGTCGGATCTCTCTATTGTAGCTTGCGTTGTTGATAATGGTTTGAAATGCCACAATAGGATCCATAAGTTGACCCCAGACCTTAGATCCAAGGCGATCCAGAATCACCATAAAACAGTGTAACGCTGGCCAGAAAGGATCCACACTATCATCTGAAATACAATGGCACAATCGTTGAATTACTAAACAGTTAGAAAAACATACTACAATATATTGAGAATTAAGCATATTCTTTATCTGGTGAGTAGCAACCCAACTAAAAGCCAAGGAGCAAATAATTTAAAGCAGTGCCGCCACCAGTCCTCAGACACACAGAGGGTTTCAAAAGCAGCCACATTTTCAAGATTTTTTGCAAGCAATACTATGATACGTCTGTAAAAAAAAAAAAAAATTTAGTGGCAAACAAATTACTTAATGGGCAAGAAAACAGTCTAGGTAAGCACAATCTTTTCACACCCTGTTTGCCATACCAGAAACAACCTTTTCTAATTCAGCTCCTCAACCCCTGCCAAAACTTTGTAGTCCCATCCTCCAATAACTAACAGAAAAGAAGAGGAAAAAAATAAAGGAAAGAGAAAGAAACTTGGTATTTACAGATCTACATGAAGCCCATAATACAAGAAATTCTCTTTCAGCATCATCCTGAATTTTGTGTCACGCATCTAGTGTAAATGACTAAATTCTTTAGCTAAGGAATAAGGCAAAGATACACTCTTCATCCATCTGTATCTCAACATGGCTTTGCTGTTCTCTACTTTTCATCCAACCTCCTGCTTCTCTATCAAATATGCAGTAGCAAGATACCGCCCTACTCAAAGACCTTCAATGGATACTTAATGTCTTCCAAGAAAATTCAAAATCCTCA
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Task1_train_13404
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With a mutation on Chromosome 9 in gene SETX (senataxin), classify this variant as benign or pathogenic. Include the disease if it's pathogenic.
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Pathogenic; Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2
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GAAAAAGAGTCTCTGTCTTTTCTTCCTTTACTGGATTCTTTTCCTCCTTACTATTAACTGTTGAAACGTGCTGCTCTGGATGTTCCCTCTCAAGGCATATTTTGTCCTGTTTAGTGAGTTTCTCAAGACTCAGGATTCTTTCATCATCATCATCATCAGAATCTGAAATAATAATAACCTGTCCACGGGAGGTATCTCCAACATTATTTTGGTTAGCTGTGAAACATCTTTTATCTTCTTTTACTTTCCTTTGCAGCTGCGATGAGTTCTGAGGTGAATCGGATGGGAACGTAATAACACTGGCTTGAGCTAGTAAAGATAATTTGTGAAGGTCTCTGTCTATCTGAGAATCCGTTAAGGTGTCAGATTTAGGACTGATGTCAGGGGCCTGTTCTCTTGTCAAGTTAGAATAAATCACACTGGTACTATTACTCATCTCCTCATCTCTTGATTCAGGTACAGTCATAAGATCTTTAAAGGGAGATGATTTCTTCTCTGAAGCATTGGTCATTTCTGTAAAAGGGATCAATTCTTTACCATCAACATGAAATTCCTGTATTTTACAATTGTTTTCATGGAAAGAGAAAATAACTAATTCTTCATTCTTTAATTGTTTCTCTTTTGGCAATACATTGTTTTGAGATTTTTGTTCTCCATTCTTATCATCCAGAACACCACTAGGGTCTAAAGAAAGATTGTGTATGAAACCATCTCCTTTCTGAACTCCTGTATCTTTCCTTGAATAGAAACTCTCAATGTTAGATACAGTCAAATTTTCATCTAAATTGATAGTATTATCGACCAAAGTACTCTTCCTGTGTTGCTTCTTTATTACATGTGATAACTTTGCACAGATTTCATCTTTCTGTACCTTAGTTTTTCGTTTTGAGGTTTTAGCAAGAGCATCATCCTTTAAAGAGAAATCTTCATTCGATGTGGACACTTTTTCCAAAGCATCAGTGCTAGAATCAGTCAACAAACGTGTTGATACTATTATTCCTCTGTCACATCCCCTTTCTGGACCATTTCTTGAAGTACAGTCCTTTGGTGTATATGAAGAGATCTCTTTTACAGACTTCTGCTTCCTTGTACTTATTTTAATTTGATCTTCAGCTCTTTCAGTAAAAATGTTTTTACTACTCTGCTTTAAGCATGACCCAGCTAAGAGATGGTCCTCTAGTTTCACATCCTTTATATAATTTTGCTCATTATTGTCACCTTCTATAGTGTTATCTGCTTTGATCAATACACTGTCTTGCACTTTCATTGGTTCTTTAGAAAATGTTGGGCTGGAAGCTTCCAAACAATGCATATCTTTTCTAGACGTCTTCCCCATTTGTTCACTTTCTTCTTTATTATAAGATGCAGGAGAGATTTTACATGCAGAAGTCAGATCCACAAAAGTGTTACATGGAGGTGCTTTGAATTTTATGTTTCTAATAATTTGCTTTAAGCAACTTTGTAGCTCATGGGTTTCCTGACTAGTCAACTGCCAACCTAGAGATAAATTTCCTCTAAGGAATAAGTTGAGCTTATCCCAGAATCGCTTGCAAAGAGACTGCTGCCCAAGCTGATAACCTTCTTTAAGGAGACTTCTAATCAGCTGCACATAAGCAAGTTGTACAGAGTTAGATGGCATGGAATGCAATGACAGTGAAGATATCATTGCTGTTCCTTTGGAGCAATTTCCAGATGATTTCTCAGAACTCCGTGTAAACGCAGTGGTAGGAAGCTTGGCACATTTGACGACGGCTTCCACCCATTGCTGGGAACTTACCCACAGCAAATGCAAACATTTTTTATTTCTATGCAGTTCAATCACTGATACCAAAATTAGAAGAAAAAATTCAGTGACTTTGTCACACACAGCATCTGTTTGGTTGAGGACTTCTTTGACTTCAGAGTACAGATGATTAACAACCTGTGCTATGTAAGCCACACCCAAATCCTTAAGATCCATGAGGGACTGGACAAAAGGGATGAACCATAGAAATGTGCTGTTATGAACACGCATGTCTTGACCAATATCTGACTGAAGTACACTGGCTAATGTTTCCATTTCTTCATACATGTTAGGACAATAATCTGGGCAAATGGCTGTTCTCCATCCAGAATCCTAAAATGAAAGAAATGCTGATGTTCAGATAAATAAGCACCACTTATGACAGGTTCAACACCCAAGTCGTTAAGAAAAATACGTTTCTCAACTCTCTTATTTTGGTTTACCACATCATTATTATGCTATACAATGGTATAATTGTGGCATATAATTATATCACAATCGTAATACACCTAACTCCCAAGAAAGTGAAAATATAAATTGAATTTTGAGTTTTCATAAAAAGACAAATTGGTAACACCTTTATGTACTCTCACCTTCTGTCCACTAGCTAGTTTTGATTTCTAGTCATGCCATGTATGTCCCCATAAACTTTCCATCTTCCCTAAATGTACTTATAAGTTAATTTTCCAAAGTATGCATACTGTAGTTAGAGTCCATCTTCCCCAACACACAATACATCTGCTGTTCAATGAGAAGGGCTTTTACATAGCAGTAGATTGAGAACAGCTACATATCACAAAATCTGCAACTCAACAAATTATACAAAATAGTCTACACAATATAAAGGCAATAAAATAGCATCTGAATTTTCAAAGTGTTTTATACCTTTTTGGTCTTTTCAGGATTATAATTGTATACGATCTGGCTGCAAGTCACCATATCATCCAAATAGGACTCCGGTTCTAACTTGGTCCTTAAATATTAAGAATAAATAGAAATTACTGAAACGAAGGGGGAAAAAAAGGAAGAAACACCTCTTGTTAAGTAATCTAGCTGGAACACACTTTCTTATAGAGATGATGTTTAAATCCTGACATTAGCTGAACTAACCTTACAGAGCTGTTCCGTATATGTCGGATCTCTCTATTGTAGCTTGCGTTGTTGATAATGGTTTGAAATGCCACAATAGGATCCATAAGTTGACCCCAGACCTTAGATCCAAGGCGATCCAGAATCACCATAAAACAGTGTAACGCTGGCCAGAAAGGATCCACACTATCATCTGAAATACAATGGCACAATCGTTGAATTACTAAACAGTTAGAAAAACATACTACAATATATTGAGAATTAAGCATATTCTTTATCTGGTGAGTAGCAACCCAACTAAAAGCCAAGGAGCAAATAATTTAAAGCAGTGCCGCCACCAGTCCTCAGACACACAGAGGGTTTCAAAAGCAGCCACATTTTCAAGATTTTTTGCAAGCAATACTATGATACGTCTGTAAAAAAAAAAAAAAATTTAGTGGCAAACAAATTACTTAATGGGCAAGAAAACAGTCTAGGTAAGCACAATCTTTTCACACCCTGTTTGCCATACCAGAAACAACCTTTTCTAATTCAGCTCCTCAACCCCTGCCAAAACTTTGTAGTCCCATCCTCCAATAACTAACAGAAAAGAAGAGGAAAAAAATAAAGGAAAGAGAAAGAAACTTGGTATTTACAGATCTACATGAAGCCCATAATACAAGAAATTCTCTTTCAGCATCATCCTGAATTTTGTGTCACGCATCTAGTGTAAATGACTAAATTCTTTAGCTAAGGAATAAGGCAAAGATACACTCTTCATCCATCTGTATCTCAACATGGCTTTGCTGTTCTCTACTTTTCATCCAACCTCCTGCTTCTCTATCAAATATGCAGTAGCAAGATACCGCCCTACTCAAAGACCTTCAATGGATACTTAATGTCTTCCAAGAAAATTCAAAATCCTCAGTCAAGAACTTAAAAGATATTGATCTACTGTTTATTTCCATTTTTATTTTTCATATTCCTATAATCATACACTATCTACAGCACAAATAGATCACTGGCTTTTTCCAAAATAAGCACTAGAATGCCCTCAATTCTAGCACAACATATCAAAATCCTATCCATCCTTAAAAGTCCAGCTTAAATGCCTCCTCCTATATTAAACATTCCCCCACTTCAGTCATCTACAGTACTCTTCTGAGGCAAGTGCTTGAATTCACGCAGTCACTGCTATTGCTACGTCATCCTAGAACTTGTGACTTTACTTCCCTCATACTTCTC
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GAAAAAGAGTCTCTGTCTTTTCTTCCTTTACTGGATTCTTTTCCTCCTTACTATTAACTGTTGAAACGTGCTGCTCTGGATGTTCCCTCTCAAGGCATATTTTGTCCTGTTTAGTGAGTTTCTCAAGACTCAGGATTCTTTCATCATCATCATCATCAGAATCTGAAATAATAATAACCTGTCCACGGGAGGTATCTCCAACATTATTTTGGTTAGCTGTGAAACATCTTTTATCTTCTTTTACTTTCCTTTGCAGCTGCGATGAGTTCTGAGGTGAATCGGATGGGAACGTAATAACACTGGCTTGAGCTAGTAAAGATAATTTGTGAAGGTCTCTGTCTATCTGAGAATCCGTTAAGGTGTCAGATTTAGGACTGATGTCAGGGGCCTGTTCTCTTGTCAAGTTAGAATAAATCACACTGGTACTATTACTCATCTCCTCATCTCTTGATTCAGGTACAGTCATAAGATCTTTAAAGGGAGATGATTTCTTCTCTGAAGCATTGGTCATTTCTGTAAAAGGGATCAATTCTTTACCATCAACATGAAATTCCTGTATTTTACAATTGTTTTCATGGAAAGAGAAAATAACTAATTCTTCATTCTTTAATTGTTTCTCTTTTGGCAATACATTGTTTTGAGATTTTTGTTCTCCATTCTTATCATCCAGAACACCACTAGGGTCTAAAGAAAGATTGTGTATGAAACCATCTCCTTTCTGAACTCCTGTATCTTTCCTTGAATAGAAACTCTCAATGTTAGATACAGTCAAATTTTCATCTAAATTGATAGTATTATCGACCAAAGTACTCTTCCTGTGTTGCTTCTTTATTACATGTGATAACTTTGCACAGATTTCATCTTTCTGTACCTTAGTTTTTCGTTTTGAGGTTTTAGCAAGAGCATCATCCTTTAAAGAGAAATCTTCATTCGATGTGGACACTTTTTCCAAAGCATCAGTGCTAGAATCAGTCAACAAACGTGTTGATACTATTATTCCTCTGTCACATCCCCTTTCTGGACCATTTCTTGAAGTACAGTCCTTTGGTGTATATGAAGAGATCTCTTTTACAGACTTCTGCTTCCTTGTACTTATTTTAATTTGATCTTCAGCTCTTTCAGTAAAAATGTTTTTACTACTCTGCTTTAAGCATGACCCAGCTAAGAGATGGTCCTCTAGTTTCACATCCTTTATATAATTTTGCTCATTATTGTCACCTTCTATAGTGTTATCTGCTTTGATCAATACACTGTCTTGCACTTTCATTGGTTCTTTAGAAAATGTTGGGCTGGAAGCTTCCAAACAATGCATATCTTTTCTAGACGTCTTCCCCATTTGTTCACTTTCTTCTTTATTATAAGATGCAGGAGAGATTTTACATGCAGAAGTCAGATCCACAAAAGTGTTACATGGAGGTGCTTTGAATTTTATGTTTCTAATAATTTGCTTTAAGCAACTTTGTAGCTCATGGGTTTCCTGACTAGTCAACTGCCAACCTAGAGATAAATTTCCTCTAAGGAATAAGTTGAGCTTATCCCAGAATCGCTTGCAAAGAGACTGCTGCCCAAGCTGATAACCTTCTTTAAGGAGACTTCTAATCAGCTGCACATAAGCAAGTTGTACAGAGTTAGATGGCATGGAATGCAATGACAGTGAAGATATCATTGCTGTTCCTTTGGAGCAATTTCCAGATGATTTCTCAGAACTCCGTGTAAACGCAGTGGTAGGAAGCTTGGCACATTTGACGACGGCTTCCACCCATTGCTGGGAACTTACCCACAGCAAATGCAAACATTTTTTATTTCTATGCAGTTCAATCACTGATACCAAAATTAGAAGAAAAAATTCAGTGACTTTGTCACACACAGCATCTGTTTGGTTGAGGACTTCTTTGACTTCAGAGTACAGATGATTAACAACCTGTGCTATGTAAGCCACACCCAAATCCTTAAGATCCATGAGGGACTGGACAAAAGGGATGAACCATAGAAATGTGCTGTTATGAACACGCATGTCTTGACCAATATCTGACTGAAGTACACTGGCTGATGTTTCCATTTCTTCATACATGTTAGGACAATAATCTGGGCAAATGGCTGTTCTCCATCCAGAATCCTAAAATGAAAGAAATGCTGATGTTCAGATAAATAAGCACCACTTATGACAGGTTCAACACCCAAGTCGTTAAGAAAAATACGTTTCTCAACTCTCTTATTTTGGTTTACCACATCATTATTATGCTATACAATGGTATAATTGTGGCATATAATTATATCACAATCGTAATACACCTAACTCCCAAGAAAGTGAAAATATAAATTGAATTTTGAGTTTTCATAAAAAGACAAATTGGTAACACCTTTATGTACTCTCACCTTCTGTCCACTAGCTAGTTTTGATTTCTAGTCATGCCATGTATGTCCCCATAAACTTTCCATCTTCCCTAAATGTACTTATAAGTTAATTTTCCAAAGTATGCATACTGTAGTTAGAGTCCATCTTCCCCAACACACAATACATCTGCTGTTCAATGAGAAGGGCTTTTACATAGCAGTAGATTGAGAACAGCTACATATCACAAAATCTGCAACTCAACAAATTATACAAAATAGTCTACACAATATAAAGGCAATAAAATAGCATCTGAATTTTCAAAGTGTTTTATACCTTTTTGGTCTTTTCAGGATTATAATTGTATACGATCTGGCTGCAAGTCACCATATCATCCAAATAGGACTCCGGTTCTAACTTGGTCCTTAAATATTAAGAATAAATAGAAATTACTGAAACGAAGGGGGAAAAAAAGGAAGAAACACCTCTTGTTAAGTAATCTAGCTGGAACACACTTTCTTATAGAGATGATGTTTAAATCCTGACATTAGCTGAACTAACCTTACAGAGCTGTTCCGTATATGTCGGATCTCTCTATTGTAGCTTGCGTTGTTGATAATGGTTTGAAATGCCACAATAGGATCCATAAGTTGACCCCAGACCTTAGATCCAAGGCGATCCAGAATCACCATAAAACAGTGTAACGCTGGCCAGAAAGGATCCACACTATCATCTGAAATACAATGGCACAATCGTTGAATTACTAAACAGTTAGAAAAACATACTACAATATATTGAGAATTAAGCATATTCTTTATCTGGTGAGTAGCAACCCAACTAAAAGCCAAGGAGCAAATAATTTAAAGCAGTGCCGCCACCAGTCCTCAGACACACAGAGGGTTTCAAAAGCAGCCACATTTTCAAGATTTTTTGCAAGCAATACTATGATACGTCTGTAAAAAAAAAAAAAAATTTAGTGGCAAACAAATTACTTAATGGGCAAGAAAACAGTCTAGGTAAGCACAATCTTTTCACACCCTGTTTGCCATACCAGAAACAACCTTTTCTAATTCAGCTCCTCAACCCCTGCCAAAACTTTGTAGTCCCATCCTCCAATAACTAACAGAAAAGAAGAGGAAAAAAATAAAGGAAAGAGAAAGAAACTTGGTATTTACAGATCTACATGAAGCCCATAATACAAGAAATTCTCTTTCAGCATCATCCTGAATTTTGTGTCACGCATCTAGTGTAAATGACTAAATTCTTTAGCTAAGGAATAAGGCAAAGATACACTCTTCATCCATCTGTATCTCAACATGGCTTTGCTGTTCTCTACTTTTCATCCAACCTCCTGCTTCTCTATCAAATATGCAGTAGCAAGATACCGCCCTACTCAAAGACCTTCAATGGATACTTAATGTCTTCCAAGAAAATTCAAAATCCTCAGTCAAGAACTTAAAAGATATTGATCTACTGTTTATTTCCATTTTTATTTTTCATATTCCTATAATCATACACTATCTACAGCACAAATAGATCACTGGCTTTTTCCAAAATAAGCACTAGAATGCCCTCAATTCTAGCACAACATATCAAAATCCTATCCATCCTTAAAAGTCCAGCTTAAATGCCTCCTCCTATATTAAACATTCCCCCACTTCAGTCATCTACAGTACTCTTCTGAGGCAAGTGCTTGAATTCACGCAGTCACTGCTATTGCTACGTCATCCTAGAACTTGTGACTTTACTTCCCTCATACTTCTC
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Task1_train_13405
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A sequence alteration has been identified in SETX (senataxin) on Chromosome 9. Is it disease-inducing or harmless?
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Pathogenic; Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2
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GAAAAAGAGTCTCTGTCTTTTCTTCCTTTACTGGATTCTTTTCCTCCTTACTATTAACTGTTGAAACGTGCTGCTCTGGATGTTCCCTCTCAAGGCATATTTTGTCCTGTTTAGTGAGTTTCTCAAGACTCAGGATTCTTTCATCATCATCATCATCAGAATCTGAAATAATAATAACCTGTCCACGGGAGGTATCTCCAACATTATTTTGGTTAGCTGTGAAACATCTTTTATCTTCTTTTACTTTCCTTTGCAGCTGCGATGAGTTCTGAGGTGAATCGGATGGGAACGTAATAACACTGGCTTGAGCTAGTAAAGATAATTTGTGAAGGTCTCTGTCTATCTGAGAATCCGTTAAGGTGTCAGATTTAGGACTGATGTCAGGGGCCTGTTCTCTTGTCAAGTTAGAATAAATCACACTGGTACTATTACTCATCTCCTCATCTCTTGATTCAGGTACAGTCATAAGATCTTTAAAGGGAGATGATTTCTTCTCTGAAGCATTGGTCATTTCTGTAAAAGGGATCAATTCTTTACCATCAACATGAAATTCCTGTATTTTACAATTGTTTTCATGGAAAGAGAAAATAACTAATTCTTCATTCTTTAATTGTTTCTCTTTTGGCAATACATTGTTTTGAGATTTTTGTTCTCCATTCTTATCATCCAGAACACCACTAGGGTCTAAAGAAAGATTGTGTATGAAACCATCTCCTTTCTGAACTCCTGTATCTTTCCTTGAATAGAAACTCTCAATGTTAGATACAGTCAAATTTTCATCTAAATTGATAGTATTATCGACCAAAGTACTCTTCCTGTGTTGCTTCTTTATTACATGTGATAACTTTGCACAGATTTCATCTTTCTGTACCTTAGTTTTTCGTTTTGAGGTTTTAGCAAGAGCATCATCCTTTAAAGAGAAATCTTCATTCGATGTGGACACTTTTTCCAAAGCATCAGTGCTAGAATCAGTCAACAAACGTGTTGATACTATTATTCCTCTGTCACATCCCCTTTCTGGACCATTTCTTGAAGTACAGTCCTTTGGTGTATATGAAGAGATCTCTTTTACAGACTTCTGCTTCCTTGTACTTATTTTAATTTGATCTTCAGCTCTTTCAGTAAAAATGTTTTTACTACTCTGCTTTAAGCATGACCCAGCTAAGAGATGGTCCTCTAGTTTCACATCCTTTATATAATTTTGCTCATTATTGTCACCTTCTATAGTGTTATCTGCTTTGATCAATACACTGTCTTGCACTTTCATTGGTTCTTTAGAAAATGTTGGGCTGGAAGCTTCCAAACAATGCATATCTTTTCTAGACGTCTTCCCCATTTGTTCACTTTCTTCTTTATTATAAGATGCAGGAGAGATTTTACATGCAGAAGTCAGATCCACAAAAGTGTTACATGGAGGTGCTTTGAATTTTATGTTTCTAATAATTTGCTTTAAGCAACTTTGTAGCTCATGGGTTTCCTGACTAGTCAACTGCCAACCTAGAGATAAATTTCCTCTAAGGAATAAGTTGAGCTTATCCCAGAATCGCTTGCAAAGAGACTGCTGCCCAAGCTGATAACCTTCTTTAAGGAGACTTCTAATCAGCTGCACATAAGCAAGTTGTACAGAGTTAGATGGCATGGAATGCAATGACAGTGAAGATATCATTGCTGTTCCTTTGGAGCAATTTCCAGATGATTTCTCAGAACTCCGTGTAAACGCAGTGGTAGGAAGCTTGGCACATTTGACGACGGCTTCCACCCATTGCTGGGAACTTACCCACAGCAAATGCAAACATTTTTTATTTCTATGCAGTTCAATCACTGATACCAAAATTAGAAGAAAAAATTCAGTGACTTTGTCACACACAGCATCTGTTTGGTTGAGGACTTCTTTGACTTCAGAGTACAGATGATTAACAACCTGTGCTATGTAAGCCACACCCAAATCCTTAAGATCCATGAGGGACTGGACAAAAGGGATGAACCATAGAAATGTGCTGTTATGAACACGCATGTCTTGACCAATATCTGACTGAAGTACACTGGCTAATGTTTCCATTTCTTCATACATGTTAGGACAATAATCTGGGCAAATGGCTGTTCTCCATCCAGAATCCTAAAATGAAAGAAATGCTGATGTTCAGATAAATAAGCACCACTTATGACAGGTTCAACACCCAAGTCGTTAAGAAAAATACGTTTCTCAACTCTCTTATTTTGGTTTACCACATCATTATTATGCTATACAATGGTATAATTGTGGCATATAATTATATCACAATCGTAATACACCTAACTCCCAAGAAAGTGAAAATATAAATTGAATTTTGAGTTTTCATAAAAAGACAAATTGGTAACACCTTTATGTACTCTCACCTTCTGTCCACTAGCTAGTTTTGATTTCTAGTCATGCCATGTATGTCCCCATAAACTTTCCATCTTCCCTAAATGTACTTATAAGTTAATTTTCCAAAGTATGCATACTGTAGTTAGAGTCCATCTTCCCCAACACACAATACATCTGCTGTTCAATGAGAAGGGCTTTTACATAGCAGTAGATTGAGAACAGCTACATATCACAAAATCTGCAACTCAACAAATTATACAAAATAGTCTACACAATATAAAGGCAATAAAATAGCATCTGAATTTTCAAAGTGTTTTATACCTTTTTGGTCTTTTCAGGATTATAATTGTATACGATCTGGCTGCAAGTCACCATATCATCCAAATAGGACTCCGGTTCTAACTTGGTCCTTAAATATTAAGAATAAATAGAAATTACTGAAACGAAGGGGGAAAAAAAGGAAGAAACACCTCTTGTTAAGTAATCTAGCTGGAACACACTTTCTTATAGAGATGATGTTTAAATCCTGACATTAGCTGAACTAACCTTACAGAGCTGTTCCGTATATGTCGGATCTCTCTATTGTAGCTTGCGTTGTTGATAATGGTTTGAAATGCCACAATAGGATCCATAAGTTGACCCCAGACCTTAGATCCAAGGCGATCCAGAATCACCATAAAACAGTGTAACGCTGGCCAGAAAGGATCCACACTATCATCTGAAATACAATGGCACAATCGTTGAATTACTAAACAGTTAGAAAAACATACTACAATATATTGAGAATTAAGCATATTCTTTATCTGGTGAGTAGCAACCCAACTAAAAGCCAAGGAGCAAATAATTTAAAGCAGTGCCGCCACCAGTCCTCAGACACACAGAGGGTTTCAAAAGCAGCCACATTTTCAAGATTTTTTGCAAGCAATACTATGATACGTCTGTAAAAAAAAAAAAAAATTTAGTGGCAAACAAATTACTTAATGGGCAAGAAAACAGTCTAGGTAAGCACAATCTTTTCACACCCTGTTTGCCATACCAGAAACAACCTTTTCTAATTCAGCTCCTCAACCCCTGCCAAAACTTTGTAGTCCCATCCTCCAATAACTAACAGAAAAGAAGAGGAAAAAAATAAAGGAAAGAGAAAGAAACTTGGTATTTACAGATCTACATGAAGCCCATAATACAAGAAATTCTCTTTCAGCATCATCCTGAATTTTGTGTCACGCATCTAGTGTAAATGACTAAATTCTTTAGCTAAGGAATAAGGCAAAGATACACTCTTCATCCATCTGTATCTCAACATGGCTTTGCTGTTCTCTACTTTTCATCCAACCTCCTGCTTCTCTATCAAATATGCAGTAGCAAGATACCGCCCTACTCAAAGACCTTCAATGGATACTTAATGTCTTCCAAGAAAATTCAAAATCCTCAGTCAAGAACTTAAAAGATATTGATCTACTGTTTATTTCCATTTTTATTTTTCATATTCCTATAATCATACACTATCTACAGCACAAATAGATCACTGGCTTTTTCCAAAATAAGCACTAGAATGCCCTCAATTCTAGCACAACATATCAAAATCCTATCCATCCTTAAAAGTCCAGCTTAAATGCCTCCTCCTATATTAAACATTCCCCCACTTCAGTCATCTACAGTACTCTTCTGAGGCAAGTGCTTGAATTCACGCAGTCACTGCTATTGCTACGTCATCCTAGAACTTGTGACTTTACTTCCCTCATACTTCTC
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GAAAAAGAGTCTCTGTCTTTTCTTCCTTTACTGGATTCTTTTCCTCCTTACTATTAACTGTTGAAACGTGCTGCTCTGGATGTTCCCTCTCAAGGCATATTTTGTCCTGTTTAGTGAGTTTCTCAAGACTCAGGATTCTTTCATCATCATCATCATCAGAATCTGAAATAATAATAACCTGTCCACGGGAGGTATCTCCAACATTATTTTGGTTAGCTGTGAAACATCTTTTATCTTCTTTTACTTTCCTTTGCAGCTGCGATGAGTTCTGAGGTGAATCGGATGGGAACGTAATAACACTGGCTTGAGCTAGTAAAGATAATTTGTGAAGGTCTCTGTCTATCTGAGAATCCGTTAAGGTGTCAGATTTAGGACTGATGTCAGGGGCCTGTTCTCTTGTCAAGTTAGAATAAATCACACTGGTACTATTACTCATCTCCTCATCTCTTGATTCAGGTACAGTCATAAGATCTTTAAAGGGAGATGATTTCTTCTCTGAAGCATTGGTCATTTCTGTAAAAGGGATCAATTCTTTACCATCAACATGAAATTCCTGTATTTTACAATTGTTTTCATGGAAAGAGAAAATAACTAATTCTTCATTCTTTAATTGTTTCTCTTTTGGCAATACATTGTTTTGAGATTTTTGTTCTCCATTCTTATCATCCAGAACACCACTAGGGTCTAAAGAAAGATTGTGTATGAAACCATCTCCTTTCTGAACTCCTGTATCTTTCCTTGAATAGAAACTCTCAATGTTAGATACAGTCAAATTTTCATCTAAATTGATAGTATTATCGACCAAAGTACTCTTCCTGTGTTGCTTCTTTATTACATGTGATAACTTTGCACAGATTTCATCTTTCTGTACCTTAGTTTTTCGTTTTGAGGTTTTAGCAAGAGCATCATCCTTTAAAGAGAAATCTTCATTCGATGTGGACACTTTTTCCAAAGCATCAGTGCTAGAATCAGTCAACAAACGTGTTGATACTATTATTCCTCTGTCACATCCCCTTTCTGGACCATTTCTTGAAGTACAGTCCTTTGGTGTATATGAAGAGATCTCTTTTACAGACTTCTGCTTCCTTGTACTTATTTTAATTTGATCTTCAGCTCTTTCAGTAAAAATGTTTTTACTACTCTGCTTTAAGCATGACCCAGCTAAGAGATGGTCCTCTAGTTTCACATCCTTTATATAATTTTGCTCATTATTGTCACCTTCTATAGTGTTATCTGCTTTGATCAATACACTGTCTTGCACTTTCATTGGTTCTTTAGAAAATGTTGGGCTGGAAGCTTCCAAACAATGCATATCTTTTCTAGACGTCTTCCCCATTTGTTCACTTTCTTCTTTATTATAAGATGCAGGAGAGATTTTACATGCAGAAGTCAGATCCACAAAAGTGTTACATGGAGGTGCTTTGAATTTTATGTTTCTAATAATTTGCTTTAAGCAACTTTGTAGCTCATGGGTTTCCTGACTAGTCAACTGCCAACCTAGAGATAAATTTCCTCTAAGGAATAAGTTGAGCTTATCCCAGAATCGCTTGCAAAGAGACTGCTGCCCAAGCTGATAACCTTCTTTAAGGAGACTTCTAATCAGCTGCACATAAGCAAGTTGTACAGAGTTAGATGGCATGGAATGCAATGACAGTGAAGATATCATTGCTGTTCCTTTGGAGCAATTTCCAGATGATTTCTCAGAACTCCGTGTAAACGCAGTGGTAGGAAGCTTGGCACATTTGACGACGGCTTCCACCCATTGCTGGGAACTTACCCACAGCAAATGCAAACATTTTTTATTTCTATGCAGTTCAATCACTGATACCAAAATTAGAAGAAAAAATTCAGTGACTTTGTCACACACAGCATCTGTTTGGTTGAGGACTTCTTTGACTTCAGAGTACAGATGATTAACAACCTGTGCTATGTAAGCCACACCCAAATCCTTAAGATCCATGAGGGACTGGACAAAAGGGATGAACCATAGAAATGTGCTGTTATGAACACGCATGTCTTGACCAATATCTGACTGAAGTACACTGGCTGATGTTTCCATTTCTTCATACATGTTAGGACAATAATCTGGGCAAATGGCTGTTCTCCATCCAGAATCCTAAAATGAAAGAAATGCTGATGTTCAGATAAATAAGCACCACTTATGACAGGTTCAACACCCAAGTCGTTAAGAAAAATACGTTTCTCAACTCTCTTATTTTGGTTTACCACATCATTATTATGCTATACAATGGTATAATTGTGGCATATAATTATATCACAATCGTAATACACCTAACTCCCAAGAAAGTGAAAATATAAATTGAATTTTGAGTTTTCATAAAAAGACAAATTGGTAACACCTTTATGTACTCTCACCTTCTGTCCACTAGCTAGTTTTGATTTCTAGTCATGCCATGTATGTCCCCATAAACTTTCCATCTTCCCTAAATGTACTTATAAGTTAATTTTCCAAAGTATGCATACTGTAGTTAGAGTCCATCTTCCCCAACACACAATACATCTGCTGTTCAATGAGAAGGGCTTTTACATAGCAGTAGATTGAGAACAGCTACATATCACAAAATCTGCAACTCAACAAATTATACAAAATAGTCTACACAATATAAAGGCAATAAAATAGCATCTGAATTTTCAAAGTGTTTTATACCTTTTTGGTCTTTTCAGGATTATAATTGTATACGATCTGGCTGCAAGTCACCATATCATCCAAATAGGACTCCGGTTCTAACTTGGTCCTTAAATATTAAGAATAAATAGAAATTACTGAAACGAAGGGGGAAAAAAAGGAAGAAACACCTCTTGTTAAGTAATCTAGCTGGAACACACTTTCTTATAGAGATGATGTTTAAATCCTGACATTAGCTGAACTAACCTTACAGAGCTGTTCCGTATATGTCGGATCTCTCTATTGTAGCTTGCGTTGTTGATAATGGTTTGAAATGCCACAATAGGATCCATAAGTTGACCCCAGACCTTAGATCCAAGGCGATCCAGAATCACCATAAAACAGTGTAACGCTGGCCAGAAAGGATCCACACTATCATCTGAAATACAATGGCACAATCGTTGAATTACTAAACAGTTAGAAAAACATACTACAATATATTGAGAATTAAGCATATTCTTTATCTGGTGAGTAGCAACCCAACTAAAAGCCAAGGAGCAAATAATTTAAAGCAGTGCCGCCACCAGTCCTCAGACACACAGAGGGTTTCAAAAGCAGCCACATTTTCAAGATTTTTTGCAAGCAATACTATGATACGTCTGTAAAAAAAAAAAAAAATTTAGTGGCAAACAAATTACTTAATGGGCAAGAAAACAGTCTAGGTAAGCACAATCTTTTCACACCCTGTTTGCCATACCAGAAACAACCTTTTCTAATTCAGCTCCTCAACCCCTGCCAAAACTTTGTAGTCCCATCCTCCAATAACTAACAGAAAAGAAGAGGAAAAAAATAAAGGAAAGAGAAAGAAACTTGGTATTTACAGATCTACATGAAGCCCATAATACAAGAAATTCTCTTTCAGCATCATCCTGAATTTTGTGTCACGCATCTAGTGTAAATGACTAAATTCTTTAGCTAAGGAATAAGGCAAAGATACACTCTTCATCCATCTGTATCTCAACATGGCTTTGCTGTTCTCTACTTTTCATCCAACCTCCTGCTTCTCTATCAAATATGCAGTAGCAAGATACCGCCCTACTCAAAGACCTTCAATGGATACTTAATGTCTTCCAAGAAAATTCAAAATCCTCAGTCAAGAACTTAAAAGATATTGATCTACTGTTTATTTCCATTTTTATTTTTCATATTCCTATAATCATACACTATCTACAGCACAAATAGATCACTGGCTTTTTCCAAAATAAGCACTAGAATGCCCTCAATTCTAGCACAACATATCAAAATCCTATCCATCCTTAAAAGTCCAGCTTAAATGCCTCCTCCTATATTAAACATTCCCCCACTTCAGTCATCTACAGTACTCTTCTGAGGCAAGTGCTTGAATTCACGCAGTCACTGCTATTGCTACGTCATCCTAGAACTTGTGACTTTACTTCCCTCATACTTCTC
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Task1_train_13406
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The gene SETX (senataxin), on Chromosome 9, contains a mutation. Does this mutation cause a disorder, or is it a benign change?
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Pathogenic; Amyotrophic lateral sclerosis type 4
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GAAAAAGAGTCTCTGTCTTTTCTTCCTTTACTGGATTCTTTTCCTCCTTACTATTAACTGTTGAAACGTGCTGCTCTGGATGTTCCCTCTCAAGGCATATTTTGTCCTGTTTAGTGAGTTTCTCAAGACTCAGGATTCTTTCATCATCATCATCATCAGAATCTGAAATAATAATAACCTGTCCACGGGAGGTATCTCCAACATTATTTTGGTTAGCTGTGAAACATCTTTTATCTTCTTTTACTTTCCTTTGCAGCTGCGATGAGTTCTGAGGTGAATCGGATGGGAACGTAATAACACTGGCTTGAGCTAGTAAAGATAATTTGTGAAGGTCTCTGTCTATCTGAGAATCCGTTAAGGTGTCAGATTTAGGACTGATGTCAGGGGCCTGTTCTCTTGTCAAGTTAGAATAAATCACACTGGTACTATTACTCATCTCCTCATCTCTTGATTCAGGTACAGTCATAAGATCTTTAAAGGGAGATGATTTCTTCTCTGAAGCATTGGTCATTTCTGTAAAAGGGATCAATTCTTTACCATCAACATGAAATTCCTGTATTTTACAATTGTTTTCATGGAAAGAGAAAATAACTAATTCTTCATTCTTTAATTGTTTCTCTTTTGGCAATACATTGTTTTGAGATTTTTGTTCTCCATTCTTATCATCCAGAACACCACTAGGGTCTAAAGAAAGATTGTGTATGAAACCATCTCCTTTCTGAACTCCTGTATCTTTCCTTGAATAGAAACTCTCAATGTTAGATACAGTCAAATTTTCATCTAAATTGATAGTATTATCGACCAAAGTACTCTTCCTGTGTTGCTTCTTTATTACATGTGATAACTTTGCACAGATTTCATCTTTCTGTACCTTAGTTTTTCGTTTTGAGGTTTTAGCAAGAGCATCATCCTTTAAAGAGAAATCTTCATTCGATGTGGACACTTTTTCCAAAGCATCAGTGCTAGAATCAGTCAACAAACGTGTTGATACTATTATTCCTCTGTCACATCCCCTTTCTGGACCATTTCTTGAAGTACAGTCCTTTGGTGTATATGAAGAGATCTCTTTTACAGACTTCTGCTTCCTTGTACTTATTTTAATTTGATCTTCAGCTCTTTCAGTAAAAATGTTTTTACTACTCTGCTTTAAGCATGACCCAGCTAAGAGATGGTCCTCTAGTTTCACATCCTTTATATAATTTTGCTCATTATTGTCACCTTCTATAGTGTTATCTGCTTTGATCAATACACTGTCTTGCACTTTCATTGGTTCTTTAGAAAATGTTGGGCTGGAAGCTTCCAAACAATGCATATCTTTTCTAGACGTCTTCCCCATTTGTTCACTTTCTTCTTTATTATAAGATGCAGGAGAGATTTTACATGCAGAAGTCAGATCCACAAAAGTGTTACATGGAGGTGCTTTGAATTTTATGTTTCTAATAATTTGCTTTAAGCAACTTTGTAGCTCATGGGTTTCCTGACTAGTCAACTGCCAACCTAGAGATAAATTTCCTCTAAGGAATAAGTTGAGCTTATCCCAGAATCGCTTGCAAAGAGACTGCTGCCCAAGCTGATAACCTTCTTTAAGGAGACTTCTAATCAGCTGCACATAAGCAAGTTGTACAGAGTTAGATGGCATGGAATGCAATGACAGTGAAGATATCATTGCTGTTCCTTTGGAGCAATTTCCAGATGATTTCTCAGAACTCCGTGTAAACGCAGTGGTAGGAAGCTTGGCACATTTGACGACGGCTTCCACCCATTGCTGGGAACTTACCCACAGCAAATGCAAACATTTTTTATTTCTATGCAGTTCAATCACTGATACCAAAATTAGAAGAAAAAATTCAGTGACTTTGTCACACACAGCATCTGTTTGGTTGAGGACTTCTTTGACTTCAGAGTACAGATGATTAACAACCTGTGCTATGTAAGCCACACCCAAATCCTTAAGATCCATGAGGGACTGGACAAAAGGGATGAACCATAGAAATGTGCTGTTATGAACACGCATGTCTTGACCAATATCTGACTGAAGTACACTGGCTAATGTTTCCATTTCTTCATACATGTTAGGACAATAATCTGGGCAAATGGCTGTTCTCCATCCAGAATCCTAAAATGAAAGAAATGCTGATGTTCAGATAAATAAGCACCACTTATGACAGGTTCAACACCCAAGTCGTTAAGAAAAATACGTTTCTCAACTCTCTTATTTTGGTTTACCACATCATTATTATGCTATACAATGGTATAATTGTGGCATATAATTATATCACAATCGTAATACACCTAACTCCCAAGAAAGTGAAAATATAAATTGAATTTTGAGTTTTCATAAAAAGACAAATTGGTAACACCTTTATGTACTCTCACCTTCTGTCCACTAGCTAGTTTTGATTTCTAGTCATGCCATGTATGTCCCCATAAACTTTCCATCTTCCCTAAATGTACTTATAAGTTAATTTTCCAAAGTATGCATACTGTAGTTAGAGTCCATCTTCCCCAACACACAATACATCTGCTGTTCAATGAGAAGGGCTTTTACATAGCAGTAGATTGAGAACAGCTACATATCACAAAATCTGCAACTCAACAAATTATACAAAATAGTCTACACAATATAAAGGCAATAAAATAGCATCTGAATTTTCAAAGTGTTTTATACCTTTTTGGTCTTTTCAGGATTATAATTGTATACGATCTGGCTGCAAGTCACCATATCATCCAAATAGGACTCCGGTTCTAACTTGGTCCTTAAATATTAAGAATAAATAGAAATTACTGAAACGAAGGGGGAAAAAAAGGAAGAAACACCTCTTGTTAAGTAATCTAGCTGGAACACACTTTCTTATAGAGATGATGTTTAAATCCTGACATTAGCTGAACTAACCTTACAGAGCTGTTCCGTATATGTCGGATCTCTCTATTGTAGCTTGCGTTGTTGATAATGGTTTGAAATGCCACAATAGGATCCATAAGTTGACCCCAGACCTTAGATCCAAGGCGATCCAGAATCACCATAAAACAGTGTAACGCTGGCCAGAAAGGATCCACACTATCATCTGAAATACAATGGCACAATCGTTGAATTACTAAACAGTTAGAAAAACATACTACAATATATTGAGAATTAAGCATATTCTTTATCTGGTGAGTAGCAACCCAACTAAAAGCCAAGGAGCAAATAATTTAAAGCAGTGCCGCCACCAGTCCTCAGACACACAGAGGGTTTCAAAAGCAGCCACATTTTCAAGATTTTTTGCAAGCAATACTATGATACGTCTGTAAAAAAAAAAAAAAATTTAGTGGCAAACAAATTACTTAATGGGCAAGAAAACAGTCTAGGTAAGCACAATCTTTTCACACCCTGTTTGCCATACCAGAAACAACCTTTTCTAATTCAGCTCCTCAACCCCTGCCAAAACTTTGTAGTCCCATCCTCCAATAACTAACAGAAAAGAAGAGGAAAAAAATAAAGGAAAGAGAAAGAAACTTGGTATTTACAGATCTACATGAAGCCCATAATACAAGAAATTCTCTTTCAGCATCATCCTGAATTTTGTGTCACGCATCTAGTGTAAATGACTAAATTCTTTAGCTAAGGAATAAGGCAAAGATACACTCTTCATCCATCTGTATCTCAACATGGCTTTGCTGTTCTCTACTTTTCATCCAACCTCCTGCTTCTCTATCAAATATGCAGTAGCAAGATACCGCCCTACTCAAAGACCTTCAATGGATACTTAATGTCTTCCAAGAAAATTCAAAATCCTCAGTCAAGAACTTAAAAGATATTGATCTACTGTTTATTTCCATTTTTATTTTTCATATTCCTATAATCATACACTATCTACAGCACAAATAGATCACTGGCTTTTTCCAAAATAAGCACTAGAATGCCCTCAATTCTAGCACAACATATCAAAATCCTATCCATCCTTAAAAGTCCAGCTTAAATGCCTCCTCCTATATTAAACATTCCCCCACTTCAGTCATCTACAGTACTCTTCTGAGGCAAGTGCTTGAATTCACGCAGTCACTGCTATTGCTACGTCATCCTAGAACTTGTGACTTTACTTCCCTCATACTTCTC
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GAAAAAGAGTCTCTGTCTTTTCTTCCTTTACTGGATTCTTTTCCTCCTTACTATTAACTGTTGAAACGTGCTGCTCTGGATGTTCCCTCTCAAGGCATATTTTGTCCTGTTTAGTGAGTTTCTCAAGACTCAGGATTCTTTCATCATCATCATCATCAGAATCTGAAATAATAATAACCTGTCCACGGGAGGTATCTCCAACATTATTTTGGTTAGCTGTGAAACATCTTTTATCTTCTTTTACTTTCCTTTGCAGCTGCGATGAGTTCTGAGGTGAATCGGATGGGAACGTAATAACACTGGCTTGAGCTAGTAAAGATAATTTGTGAAGGTCTCTGTCTATCTGAGAATCCGTTAAGGTGTCAGATTTAGGACTGATGTCAGGGGCCTGTTCTCTTGTCAAGTTAGAATAAATCACACTGGTACTATTACTCATCTCCTCATCTCTTGATTCAGGTACAGTCATAAGATCTTTAAAGGGAGATGATTTCTTCTCTGAAGCATTGGTCATTTCTGTAAAAGGGATCAATTCTTTACCATCAACATGAAATTCCTGTATTTTACAATTGTTTTCATGGAAAGAGAAAATAACTAATTCTTCATTCTTTAATTGTTTCTCTTTTGGCAATACATTGTTTTGAGATTTTTGTTCTCCATTCTTATCATCCAGAACACCACTAGGGTCTAAAGAAAGATTGTGTATGAAACCATCTCCTTTCTGAACTCCTGTATCTTTCCTTGAATAGAAACTCTCAATGTTAGATACAGTCAAATTTTCATCTAAATTGATAGTATTATCGACCAAAGTACTCTTCCTGTGTTGCTTCTTTATTACATGTGATAACTTTGCACAGATTTCATCTTTCTGTACCTTAGTTTTTCGTTTTGAGGTTTTAGCAAGAGCATCATCCTTTAAAGAGAAATCTTCATTCGATGTGGACACTTTTTCCAAAGCATCAGTGCTAGAATCAGTCAACAAACGTGTTGATACTATTATTCCTCTGTCACATCCCCTTTCTGGACCATTTCTTGAAGTACAGTCCTTTGGTGTATATGAAGAGATCTCTTTTACAGACTTCTGCTTCCTTGTACTTATTTTAATTTGATCTTCAGCTCTTTCAGTAAAAATGTTTTTACTACTCTGCTTTAAGCATGACCCAGCTAAGAGATGGTCCTCTAGTTTCACATCCTTTATATAATTTTGCTCATTATTGTCACCTTCTATAGTGTTATCTGCTTTGATCAATACACTGTCTTGCACTTTCATTGGTTCTTTAGAAAATGTTGGGCTGGAAGCTTCCAAACAATGCATATCTTTTCTAGACGTCTTCCCCATTTGTTCACTTTCTTCTTTATTATAAGATGCAGGAGAGATTTTACATGCAGAAGTCAGATCCACAAAAGTGTTACATGGAGGTGCTTTGAATTTTATGTTTCTAATAATTTGCTTTAAGCAACTTTGTAGCTCATGGGTTTCCTGACTAGTCAACTGCCAACCTAGAGATAAATTTCCTCTAAGGAATAAGTTGAGCTTATCCCAGAATCGCTTGCAAAGAGACTGCTGCCCAAGCTGATAACCTTCTTTAAGGAGACTTCTAATCAGCTGCACATAAGCAAGTTGTACAGAGTTAGATGGCATGGAATGCAATGACAGTGAAGATATCATTGCTGTTCCTTTGGAGCAATTTCCAGATGATTTCTCAGAACTCCGTGTAAACGCAGTGGTAGGAAGCTTGGCACATTTGACGACGGCTTCCACCCATTGCTGGGAACTTACCCACAGCAAATGCAAACATTTTTTATTTCTATGCAGTTCAATCACTGATACCAAAATTAGAAGAAAAAATTCAGTGACTTTGTCACACACAGCATCTGTTTGGTTGAGGACTTCTTTGACTTCAGAGTACAGATGATTAACAACCTGTGCTATGTAAGCCACACCCAAATCCTTAAGATCCATGAGGGACTGGACAAAAGGGATGAACCATAGAAATGTGCTGTTATGAACACGCATGTCTTGACCAATATCTGACTGAAGTACACTGGCTGATGTTTCCATTTCTTCATACATGTTAGGACAATAATCTGGGCAAATGGCTGTTCTCCATCCAGAATCCTAAAATGAAAGAAATGCTGATGTTCAGATAAATAAGCACCACTTATGACAGGTTCAACACCCAAGTCGTTAAGAAAAATACGTTTCTCAACTCTCTTATTTTGGTTTACCACATCATTATTATGCTATACAATGGTATAATTGTGGCATATAATTATATCACAATCGTAATACACCTAACTCCCAAGAAAGTGAAAATATAAATTGAATTTTGAGTTTTCATAAAAAGACAAATTGGTAACACCTTTATGTACTCTCACCTTCTGTCCACTAGCTAGTTTTGATTTCTAGTCATGCCATGTATGTCCCCATAAACTTTCCATCTTCCCTAAATGTACTTATAAGTTAATTTTCCAAAGTATGCATACTGTAGTTAGAGTCCATCTTCCCCAACACACAATACATCTGCTGTTCAATGAGAAGGGCTTTTACATAGCAGTAGATTGAGAACAGCTACATATCACAAAATCTGCAACTCAACAAATTATACAAAATAGTCTACACAATATAAAGGCAATAAAATAGCATCTGAATTTTCAAAGTGTTTTATACCTTTTTGGTCTTTTCAGGATTATAATTGTATACGATCTGGCTGCAAGTCACCATATCATCCAAATAGGACTCCGGTTCTAACTTGGTCCTTAAATATTAAGAATAAATAGAAATTACTGAAACGAAGGGGGAAAAAAAGGAAGAAACACCTCTTGTTAAGTAATCTAGCTGGAACACACTTTCTTATAGAGATGATGTTTAAATCCTGACATTAGCTGAACTAACCTTACAGAGCTGTTCCGTATATGTCGGATCTCTCTATTGTAGCTTGCGTTGTTGATAATGGTTTGAAATGCCACAATAGGATCCATAAGTTGACCCCAGACCTTAGATCCAAGGCGATCCAGAATCACCATAAAACAGTGTAACGCTGGCCAGAAAGGATCCACACTATCATCTGAAATACAATGGCACAATCGTTGAATTACTAAACAGTTAGAAAAACATACTACAATATATTGAGAATTAAGCATATTCTTTATCTGGTGAGTAGCAACCCAACTAAAAGCCAAGGAGCAAATAATTTAAAGCAGTGCCGCCACCAGTCCTCAGACACACAGAGGGTTTCAAAAGCAGCCACATTTTCAAGATTTTTTGCAAGCAATACTATGATACGTCTGTAAAAAAAAAAAAAAATTTAGTGGCAAACAAATTACTTAATGGGCAAGAAAACAGTCTAGGTAAGCACAATCTTTTCACACCCTGTTTGCCATACCAGAAACAACCTTTTCTAATTCAGCTCCTCAACCCCTGCCAAAACTTTGTAGTCCCATCCTCCAATAACTAACAGAAAAGAAGAGGAAAAAAATAAAGGAAAGAGAAAGAAACTTGGTATTTACAGATCTACATGAAGCCCATAATACAAGAAATTCTCTTTCAGCATCATCCTGAATTTTGTGTCACGCATCTAGTGTAAATGACTAAATTCTTTAGCTAAGGAATAAGGCAAAGATACACTCTTCATCCATCTGTATCTCAACATGGCTTTGCTGTTCTCTACTTTTCATCCAACCTCCTGCTTCTCTATCAAATATGCAGTAGCAAGATACCGCCCTACTCAAAGACCTTCAATGGATACTTAATGTCTTCCAAGAAAATTCAAAATCCTCAGTCAAGAACTTAAAAGATATTGATCTACTGTTTATTTCCATTTTTATTTTTCATATTCCTATAATCATACACTATCTACAGCACAAATAGATCACTGGCTTTTTCCAAAATAAGCACTAGAATGCCCTCAATTCTAGCACAACATATCAAAATCCTATCCATCCTTAAAAGTCCAGCTTAAATGCCTCCTCCTATATTAAACATTCCCCCACTTCAGTCATCTACAGTACTCTTCTGAGGCAAGTGCTTGAATTCACGCAGTCACTGCTATTGCTACGTCATCCTAGAACTTGTGACTTTACTTCCCTCATACTTCTC
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Task1_train_13407
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This mutation is located in gene SETX (senataxin) on Chromosome 9. Is it associated with a disease or is it a benign polymorphism?
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Pathogenic; Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2
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TGGGAGGCCGAGGCAGGAGGACTGCTTGAGGTCAGGAGTTCAAGACCAGCCTACACCCATAGTGAGACTTTGTCTCTAGCAAAAATTTAAAAATTAGCTGGGTAAGATGGCACATGCCTGTGGCCCCAGTTACTAGGGAGTCAGAGGCAGGAGGATGACTTGAGCCTGGGAGGTTAAGGCTGCAGTGAGACCTGATTGAGCCACTCCAGGGTGGGTGATAGTGAGATCCTGTCTCAAAAGAAAAAAAAAAAAAAAGGTGTTTGTTTTTTTTTAAGATGGTTAAGGGAGCTAGCTTAACAGAAAGGACAGAATTATACATGTAGTTAGGCACAGGGAAAGAAATGAACAATTTATGCAGTAAATGTTGGCAAAAGAGTAATAGCCTCAGACATAATCTAGCAAGAAAATATATGCCAAAGGCCGGGCGTGGTGGCTCATGCTTGTAATCCCAACACTTTGAGAGGCCAAGGCAGGCGGATCACATGAGACCAGGAGTTCAAGACCAGCCTGGAAAACATAGTGAAACACCATCTCTACTAAAAATACAAAAATTAGCCAGGTATGGTGGTGCATACCTGTAATCCCAGCTACTTGGGAGGCTAAGGCAGGAGAATCGCTTGAACCCAGAGGCAGAGGCTGCAGTTAGCCAAGATCGCACCACTGCACTCCAGCCTGGGTGAGAGAGAAAGACTTGGTCTCAAAAAGAAAAAAAAAAAAAAGAAAAAAAAAAATATATATACACACACACACACACACACACACACACACACACACACACACGCCCTATCAACAAAAGAATAACATTAATATATTTATATTAGAATCTCCCACAAATGAGTTTATATACAACATTCAAGTTGCATGAAGAGAATGAGGGGAAAAAATTATACTCATTATGTTTTCTCATAGGATCTGGTATACTTGGTCTTTATTAATTCATTACTTCCTAAAGATTAGAAGCACTTATTTAATTACAGATCCTTCATGATTAGCATGATACAAGCATCAGCAAAAGGAGGTCAGGATCTAATAATAAACATGACTACAAGTTTTAGGCCTCATTATCTAGACTATCTGGAGCAGCATATCCAAGAGAATGTTCTGTGATGATGGAAATCTTCTGTCTCTGCATTGTTCAATACAGTACAGGATAGAGTACAGGCACGTGTGGCCATTGAGCCTTGAAATATGACTAGTGGGACCAAATAACTGCATTTTTAATTTTAATTGACTTAAATTTATTTTAATAATCACATGTGGCTGGCAGTTACTGTATTAGAGAACCACAGAGAAACAAAGAGGCAGGCAAAGGGAGGCCATGGGACAGAGAAGGCTTACCCCACAATGTTAACCACAATGTCATTACAAATGGGTCTCCCAGAGGTTCTGATGTTCATCCTACCACCAACTTTTTCATCATGAAAAAGTAGATTAACTTCCCTTCTTCTATGAAAGGAAGGTATTGAATTAAATTATAAAGGTCCTTTCTGATTTAAAAGTCTCATGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGCAGGCAGATCACCTGAGATCAAGAGTTCAAGACCAGCCTGACCAACGTGGTGAAACCCCGTCTCTACTAAAAATACAAAAAAATTAGCTGGGCGTGGTGGTGCACGCCTGTAGTCCCAGCTACTTGGGAGGCTGAGACAGGGGAATTTCTTGAACCCAGGAGGTGGAGGTTGCAGTGAGCTGACATCGCACCATTGCACTCCAGCCTGGGCAACAAGAGTATGACTTCGTATCAAAAAACAAAACAAAACAAAATAAAAAGTCTGAATCTATTACTAAACCAGAAAAATTCTTTTCTCCACAACATACACCAATTCCTGCAGTGACACTATCATTTTTAAAGTGCATCATCATCACTATATTCAACAACATTCAGCAAGTAAAGTTTATTACCATCTGCTTCCCTCTCCATAGTGTGAAGTATCGATTGCATAAAATCATTTTGTTTGTCTGAGCCCAACAACAGGGAATCCATGGCTTGTTCCTCAAGAATGGTCAGCAACATGCAAATACCTGTAAGATCATTTAGAGTTATCTTGAATTGATGAAATAATACTATACTAATGCCTGGTTTAGTTTGCAAAAGAATAACAAGGCAGGAAGATGAAGCAAGATAGTATTTAGTTTCTCAAACATTTAAGTCTCAGATATTCATACACAACTGCTCCCAAGTAATAGAACTCTAGACTAATTCAAGTGTGAAAGTACAAGATGGTTAGAAAACAATTTCTAACATAACTACCATGTAACTTGTATCTCACCAATATAAGATGCCTTCAATTTTAAGATGTACCATATTCCATATACCACTAAGAAAGAAAAAAAAAATCACTGCCATTTATGACACGTGACCTTAAGATTTGGAATCAAGGAAATGGTATAGAAGTATTTTGAGGCCGGGCGTGGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCCAAGGCGGGCAGATCACAAAGTCAGGAGATCGAGACCATCCTGGCTAACATGGTGAAACCCCGTCTCTACTAAAAATACAAAAAAATTAGCCAGGCGTGGTGGCAGGCGCCTGTGGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCAGGAGGCGGATCTTGCAGTGAGCCGAGATCGCGCGACTGCACTCCAGCCTGGGCGACAGAGCAAGACTCCGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAGTATTTTGAGCCACAATAGGACTTGTAAACAATGCTGTCAACTCTTTCTACCAGGAAAATTTAATTTTTTTTTTTTTAGGAGACAGGATCTCCCTCTGTCACCCAGGCTGGAGTGCAGTAGCACAATCCTAGCTCACTGCAGCTTCAAATTCCTGGGCTTAAATGTTCCTCCTGCCTCAGCCTCCCAAGATGCTGGGACTACAGGCGTGCACCACCATGCCCAGTTCTACCAGGAAATATTTTACACACTGAAAAAGGAGTATTAACAATCAAATCCTATTTAAAGCCAACTATTACACTAATATTTTGTTAATAAAATGTGGCCGTAAACAAGATTCGATTCATTTGCCAGTGCTTGAAAATGTACTGCTTACTACAGAAAAGTTTCTAGGATATAAATACTGTTTAATAACAAGATATGTAATAGTTAAGTCAACTTAATGACAGAATAAGAACTGAGAACTATAAAATCCTATCTTCAGTAAGTTTCATCAGATCACCAAAGAGAACACTTCCCTTTTAGGACCCTCATAGGAACTACAGGGCCGGGCGCGGTAGCTCACGCCTGTAATCCCAGCACTTTAGGAGGCCAGGGTGGGCAGATCACTTGATGTCAGGAGTTCAAGACCAGCCTGGCCAACATGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTAGCCAGGTGTGGTGGCGTTTGCCTGTAATCACAGCTACTCGGGAGGCTAAGGCAGGAGAATTGCTTGAACCTGGGAGGTGGAGCTTGCGGTGAGTGGAGATGGTGCCACTGCACTCCAGCCTGGGCAACAGAGTGAGACTGTCTCAAAAAACAGAACTATACGAAAATACCAATTATATTAGTGTAGGAATAATACTCACCTAACCAATAGCTTTTGTAGTTGGTAGTATCATACATGTGTGAGGGCAGAAGAATCAGTTTACCCTTCTCTAGGACAGAAGAAGTATAAATGTCTGGACTCTCTAAAAGCCCCAACTCAATGACTTTAAAAAGGCAAAGTAAAACTTCTTGTAAGTCATAATAATCATCTCTGTCCACTTTCCCCAAGTTTCTTGCAGTCAAGATAGCCCAACGCCGAACCTAAATGCAGAATATATTTATTACTTAATTCAATAAACAATGGTCTACAAACAGCAAGAACACAGAAAAGAAAACAGGATTCTCTGCATATTTTAAAAGACATGTGACATATTAATTAATGCAATGTGTGGACCTTATTTGATCCTGATTTGAACATACTAACCCCTAATAAACAGTTTTAGACAATCATTTCCATTCATTCAAACACTGACTGGCAAGACAACATTAAGTAATTATTCTTTTAGATGCAATAATAGTA
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TGGGAGGCCGAGGCAGGAGGACTGCTTGAGGTCAGGAGTTCAAGACCAGCCTACACCCATAGTGAGACTTTGTCTCTAGCAAAAATTTAAAAATTAGCTGGGTAAGATGGCACATGCCTGTGGCCCCAGTTACTAGGGAGTCAGAGGCAGGAGGATGACTTGAGCCTGGGAGGTTAAGGCTGCAGTGAGACCTGATTGAGCCACTCCAGGGTGGGTGATAGTGAGATCCTGTCTCAAAAGAAAAAAAAAAAAAAAGGTGTTTGTTTTTTTTTAAGATGGTTAAGGGAGCTAGCTTAACAGAAAGGACAGAATTATACATGTAGTTAGGCACAGGGAAAGAAATGAACAATTTATGCAGTAAATGTTGGCAAAAGAGTAATAGCCTCAGACATAATCTAGCAAGAAAATATATGCCAAAGGCCGGGCGTGGTGGCTCATGCTTGTAATCCCAACACTTTGAGAGGCCAAGGCAGGCGGATCACATGAGACCAGGAGTTCAAGACCAGCCTGGAAAACATAGTGAAACACCATCTCTACTAAAAATACAAAAATTAGCCAGGTATGGTGGTGCATACCTGTAATCCCAGCTACTTGGGAGGCTAAGGCAGGAGAATCGCTTGAACCCAGAGGCAGAGGCTGCAGTTAGCCAAGATCGCACCACTGCACTCCAGCCTGGGTGAGAGAGAAAGACTTGGTCTCAAAAAGAAAAAAAAAAAAAAGAAAAAAAAAAATATATATACACACACACACACACACACACACACACACACACACACACACGCCCTATCAACAAAAGAATAACATTAATATATTTATATTAGAATCTCCCACAAATGAGTTTATATACAACATTCAAGTTGCATGAAGAGAATGAGGGGAAAAAATTATACTCATTATGTTTTCTCATAGGATCTGGTATACTTGGTCTTTATTAATTCATTACTTCCTAAAGATTAGAAGCACTTATTTAATTACAGATCCTTCATGATTAGCATGATACAAGCATCAGCAAAAGGAGGTCAGGATCTAATAATAAACATGACTACAAGTTTTAGGCCTCATTATCTAGACTATCTGGAGCAGCATATCCAAGAGAATGTTCTGTGATGATGGAAATCTTCTGTCTCTGCATTGTTCAATACAGTACAGGATAGAGTACAGGCACGTGTGGCCATTGAGCCTTGAAATATGACTAGTGGGACCAAATAACTGCATTTTTAATTTTAATTGACTTAAATTTATTTTAATAATCACATGTGGCTGGCAGTTACTGTATTAGAGAACCACAGAGAAACAAAGAGGCAGGCAAAGGGAGGCCATGGGACAGAGAAGGCTTACCCCACAATGTTAACCACAATGTCATTACAAATGGGTCTCCCAGAGGTTCTGATGTTCATCCTACCACCAACTTTTTCATCATGAAAAAGTAGATTAACTTCCCTTCTTCTATGAAAGGAAGGTATTGAATTAAATTATAAAGGTCCTTTCTGATTTAAAAGTCTCATGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGCAGGCAGATCACCTGAGATCAAGAGTTCAAGACCAGCCTGACCAACGTGGTGAAACCCCGTCTCTACTAAAAATACAAAAAAATTAGCTGGGCGTGGTGGTGCACGCCTGTAGTCCCAGCTACTTGGGAGGCTGAGACAGGGGAATTTCTTGAACCCAGGAGGTGGAGGTTGCAGTGAGCTGACATCGCACCATTGCACTCCAGCCTGGGCAACAAGAGTATGACTTCGTATCAAAAAACAAAACAAAACAAAATAAAAAGTCTGAATCTATTACTAAACCAGAAAAATTCTTTTCTCCACAACATACACCAATTCCTGCAGTGACACTATCATTTTTAAAGTGCATCATCATCACTATATTCAACAACATTCAGCAAGTAAAGTTTATTACCATCTGCTTCCCTCTCCATAGTGTGAAGTATCGATTGCATAAAATCATTTTGTTTGTCTGAGCCCAACAACAGGGAATCCATGGCTTGTTCCTCAAGAATGGTCAGCAACATGCAAATATCTGTAAGATCATTTAGAGTTATCTTGAATTGATGAAATAATACTATACTAATGCCTGGTTTAGTTTGCAAAAGAATAACAAGGCAGGAAGATGAAGCAAGATAGTATTTAGTTTCTCAAACATTTAAGTCTCAGATATTCATACACAACTGCTCCCAAGTAATAGAACTCTAGACTAATTCAAGTGTGAAAGTACAAGATGGTTAGAAAACAATTTCTAACATAACTACCATGTAACTTGTATCTCACCAATATAAGATGCCTTCAATTTTAAGATGTACCATATTCCATATACCACTAAGAAAGAAAAAAAAAATCACTGCCATTTATGACACGTGACCTTAAGATTTGGAATCAAGGAAATGGTATAGAAGTATTTTGAGGCCGGGCGTGGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCCAAGGCGGGCAGATCACAAAGTCAGGAGATCGAGACCATCCTGGCTAACATGGTGAAACCCCGTCTCTACTAAAAATACAAAAAAATTAGCCAGGCGTGGTGGCAGGCGCCTGTGGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCAGGAGGCGGATCTTGCAGTGAGCCGAGATCGCGCGACTGCACTCCAGCCTGGGCGACAGAGCAAGACTCCGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAGTATTTTGAGCCACAATAGGACTTGTAAACAATGCTGTCAACTCTTTCTACCAGGAAAATTTAATTTTTTTTTTTTTAGGAGACAGGATCTCCCTCTGTCACCCAGGCTGGAGTGCAGTAGCACAATCCTAGCTCACTGCAGCTTCAAATTCCTGGGCTTAAATGTTCCTCCTGCCTCAGCCTCCCAAGATGCTGGGACTACAGGCGTGCACCACCATGCCCAGTTCTACCAGGAAATATTTTACACACTGAAAAAGGAGTATTAACAATCAAATCCTATTTAAAGCCAACTATTACACTAATATTTTGTTAATAAAATGTGGCCGTAAACAAGATTCGATTCATTTGCCAGTGCTTGAAAATGTACTGCTTACTACAGAAAAGTTTCTAGGATATAAATACTGTTTAATAACAAGATATGTAATAGTTAAGTCAACTTAATGACAGAATAAGAACTGAGAACTATAAAATCCTATCTTCAGTAAGTTTCATCAGATCACCAAAGAGAACACTTCCCTTTTAGGACCCTCATAGGAACTACAGGGCCGGGCGCGGTAGCTCACGCCTGTAATCCCAGCACTTTAGGAGGCCAGGGTGGGCAGATCACTTGATGTCAGGAGTTCAAGACCAGCCTGGCCAACATGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTAGCCAGGTGTGGTGGCGTTTGCCTGTAATCACAGCTACTCGGGAGGCTAAGGCAGGAGAATTGCTTGAACCTGGGAGGTGGAGCTTGCGGTGAGTGGAGATGGTGCCACTGCACTCCAGCCTGGGCAACAGAGTGAGACTGTCTCAAAAAACAGAACTATACGAAAATACCAATTATATTAGTGTAGGAATAATACTCACCTAACCAATAGCTTTTGTAGTTGGTAGTATCATACATGTGTGAGGGCAGAAGAATCAGTTTACCCTTCTCTAGGACAGAAGAAGTATAAATGTCTGGACTCTCTAAAAGCCCCAACTCAATGACTTTAAAAAGGCAAAGTAAAACTTCTTGTAAGTCATAATAATCATCTCTGTCCACTTTCCCCAAGTTTCTTGCAGTCAAGATAGCCCAACGCCGAACCTAAATGCAGAATATATTTATTACTTAATTCAATAAACAATGGTCTACAAACAGCAAGAACACAGAAAAGAAAACAGGATTCTCTGCATATTTTAAAAGACATGTGACATATTAATTAATGCAATGTGTGGACCTTATTTGATCCTGATTTGAACATACTAACCCCTAATAAACAGTTTTAGACAATCATTTCCATTCATTCAAACACTGACTGGCAAGACAACATTAAGTAATTATTCTTTTAGATGCAATAATAGTA
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Task1_train_13408
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The gene TSC1 (TSC complex subunit 1) on Chromosome 9 contains a mutation. Based on this information, is the variant pathogenic or benign? Provide the disease if relevant.
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Pathogenic; Hereditary cancer-predisposing syndrome
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CTGCAGAAAAAAAAATGACTGAGACACTAAGGGAGCTACTATATGAACCAACAAAGTTGGGGAACCTCTGTCCTAAGTAAGATTCACCTGCCATGAAGAATTTCTGCCATGATTTCAGAGAGAAAAGCATTCAGCTTAGTAAAGCTGAACAAGTCAAGGACACCCAGGGAAACTGACTGCCTCCCTCCCCACTGCTCTCCGGCATTCTCGCAGTTGGCTTTGCCTGGTGCTGCAGTTTATACCTGTAATTCCTGGCTCTGGTTGTAGAATTCCTCTCGGTCATGCTGCAGCTGTCTGATCTGGCTGTGGAGCTTGGTTACCATAGTGTCACGCTGCTCCTGGAGCTGATTGTATCTAGCTTGTTCTTTCTGCAGACTAACCTTCCACATCTGGATGTCCTTCTCTTGTAACTTCAACTGATCTTTCTAGCAGAGACCAGAAATGTCATCATTTTAGCTGTCTTCCAACACAGGCAATTTAACACACACTGCGAACATTTCATCTGAATAGTCATAAGCTACCCTGAAAATGTAACTAACTACAGACCAAAACTCTTAGAGCTCACTACTGTCTTACTTGGCCTTAGGTCAAGGTTTTCCAAATTTTACATTAAGCAAATGGATCTTAAGTTGCTTAAATAAATCTTCTCAGGGATCAGTTTGCTTCCAATACTTTCAAAAGTCTGACTACCAACACTGGAATAAAATCTCTCAAACATGGTACTAAGTTCACTGAAACGATGAGCATTTACTGAATGCTTGCAGTGTGCTGGGCGCTCAGCAAGGGCTTACCGACATAATTTCTTTTAACCATCACAACTTAAAGAGCAGGTGCTGCTATTGTTATTTCCATTTTATAGCATGGCTAACAGAGGCTTCAAGAGGCCACGTTACTTTTCTAAGGTAACACTGGTAGAGCCAAGATTCAAACTCCAGGCCTGACTGGCTTCACACCCGCTGTACAATACACGCTTCAGTTTTGTGCCATGAAATAGCTTTACAAGAGTTGGTTTTACATTTGGAGAAATAAAATCATCTTCTGACCCTTCATCATCATGGCCAGTTACATGCAAACATACACACACAAAATCACTTGTCCCCACGGTTTCTGAGAATTATGAGGGAATTCCGAGGTGTCACCATTCATGTCTTAATCTCAAGCGACCTGCCCAAAGGAGTGGGAAGGACTGGGAACTCTGACCTCCTCGGCTGCTGTGCTTTATAAGCTATCATGCTGACCCAAAACAAAACAAAAAGCAAGCTCCACCTGTCCCCTCCCCAGTCCTCACCATGGCAGCATTATGTTCCTCCAGAGCTGCTGCTTTGATCACCTTGCGGAGGAGCCGCCTGTTCCGGAGGGCATGCTGCTGCCTCTTAAAACGCTCATAGAGTAACTGGTTGTGCAGTAAAAGCAACTGGTCTCGGAGGGTGCGGATCTCATCTGAAGGAGGAGAGCCTGATTGTAAAGCAGAGGGAGGGTGGCAGAAATGCCTTTTACAGATGGTTCAATCAAGCCCCCTTCCCATGTGTTGTTAGCTTAACAAACACAATTCTTTAAAAACAAATCACCACTCTCTTTGCAAATGACCACTTGACTCCCAGCAACAGCAGGGGGGAAAGTATGGACTATGTGTCTCCCCCGTGAAGGAATGCAAAAGGTCATATCATGTGGGATGACTCTTTGAGAGCCTGCTTTCCTTTCCCCACAAATCTAGATCACGCATTTCAGATGCCCTGTTTCTCAAGACACTTCCTTCGCTGTGTGTTCTCCCCCAGGAAGATGCTTCACTCTGGTCTTCTCCAGGGAAGCCTGGCAGGAAGTCTGTATTTTGCACTTATACTCTCAAGCGCATAGTACTTGCCACTTTTCAAAAATAAGAAATGCTGACTTGGCAACACTTGAGATCCTTTAGCCAAGCAGATAGCCTGGCCGGAGCAATAGCCAAGGGGAGATCTGTTTCCCAGAGGGCACCTCCTTCAAGGACAGAAAGGGCAACAAGCAAGCAGGAACCATGTGGGCTGGATTTGGAGCTAAAGTAACAACTTTACCTCCAAAGTGGGTCCAGTCGACAGACTTGCTGGGTAAAGGCAACCTAGGAAGAAAGTTTTTGAGTAACAAAGTTACCGATCTTACCAAGAAAAAAACGTATCTGGACTTTTATTTGCAGCAAAGTTAGATCACTTCCTTGTGGTCAAAATCTGCAATGGCATAAGAATGTTTCAAACTCCAGGTCCACAGAGAGTTAGAGGAGAAGCCTACACTGGACACAATGGGAGGCGGCCCTCGCCCCACTGCCTAGGACCTGTGTTGTTAGCTTAACACAGTCCTTTAAAAAACAAATCCAGAGCGGAGAGGGTTGCAGGCTGAGCTGCACTGCATACACCGTGGCCTCCGTTTCTGGGGCCAGCTCTCCAGAGAAACTGAGTAGTCAAACACACTGAGAGCCGTTTTCAACCCTGTCTGTTGAAATATACAGGGAGTACACTCTGTTGTAAAGCTATGTCACTCCGATTTAAGGAAAAAGTAGGTAATTTACCTAAGCCTATCATACCAAATCTCGTTTAAAAAGAGGGAGCTTAAATACTATAATCCCTGTCAAATTCCACCATAGCATAGTATATAAGAAGAAAAATAAAAATATTCCCCAAGCACCTGTAAAGTAGCTAATAAAAGACGGATGGGAAACCGTTTCTCAGCTAGAGTCCTTTCTATGAAAACTTGGGTGCCTCAGGGGGTCTGGAGGGGATGTCAGGCCATCTGAACTTGCATAAAATGCTGATGATTTTATCTCCACCTAATGAACTATGATACCAAAATAGAAAATAATAATAATAATCTGTAGCTAGAGAGGGAAACACTGTGACAAATATTCTTATATTCTTTGAAATACCATAACCTCATTTTCAGCCTACAGCTTGCAGAGGGCACATATGAAAGCATTTGAGTGTCCTCATAGAACAGAGGCATAAAATGGCCTATATAAAAAGACTCATTTTGAAATGGACTGCTAAGGAATCATCCCAATTTAGGTGCACAGAGGTCACACATGGTCACATATATGAAGATGCAACAGCCTAGAAGGACATCTGACAAACAGCAGAGAACCAGCTGCCTCAAGGTGGGAGTGTGAAGAATGATTCTTGTTCCTCTCTTACACTTTCTGTACTTCACAATAAAATGGACCATTTAACACAGAAGAGAGTGCCCCAGTCCCTTACTTGTTCAGCTCCTTGCTGTGCGCGTCTGCTCCCTGCTGTATCAGTCTGTCCAGCACTTCCATTGGGGAGGTAGAGGGCACACCATCTTCCTCTGTGTTTCCTTTTGCTTTCTTTAACAGCTCCTCAGTCTTCCTGATGACAAAATGATGGGCTGTCTTTGGCAATGCCACCTCAAAAAGATGATCATACGGGGGAGGCTGCCCGCTTCCAAAGCCCACTCTCGTCGGAGGTGGAATTTTACAAGGACTGGGAGTGAAGATACTGGTCTCCAAAGAAGTCTGGCATTCCCTGTCTCCCGCAGGGCTTTCATCAGCACTGCCGCAGGGCAGGTCTATGGGAGTAAAGGCTTGCTTTGGTGTGTCAGGCCCAAGCTTGTCCAGGGAGGAGTGTAAAGGCTCAGGGTTCACGCTGGCGCCCTGAGAACTGGAGGCTGCCGAGTGGGTCTTCCGCTGAGAACCTGGGAGACTGTCTCGGTAAAAGGGAGAGTCAAAGCCTCCTCGAGGAACCACAGGCTCTGCCTCTGCTGTGGTGATCTCAGAAAGTTCTCTAGATATTGCAGCTGAGAGGAAGAGAGGAAACAAAAGAAATGGCAGTCGGTATTCCACCTGGGAAAGACTAGGCAGTTTGGGTGGCATGCTGCCACATGCCAGTGTCACTCAGAGAGAGGAGAAAAAGTGGCATCCGGCTGGACACAGTGGCTCACGCCTGTAATGCCAGAACTTTGGGAGGCTGAGGAGGGAGGATCACTTGAGCCCAGGAGTTAGAGACCAGCCTGGACAACATAGGGAGATCCCATCTCTACAAAAAATACAATAAAAATCAGCTGAGCATCGTGGTGTATGCCTGTGGTCCCAGCTACTCAGGAGGCTGAGGTGGGC
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CTGCAGAAAAAAAAATGACTGAGACACTAAGGGAGCTACTATATGAACCAACAAAGTTGGGGAACCTCTGTCCTAAGTAAGATTCACCTGCCATGAAGAATTTCTGCCATGATTTCAGAGAGAAAAGCATTCAGCTTAGTAAAGCTGAACAAGTCAAGGACACCCAGGGAAACTGACTGCCTCCCTCCCCACTGCTCTCCGGCATTCTCGCAGTTGGCTTTGCCTGGTGCTGCAGTTTATACCTGTAATTCCTGGCTCTGGTTGTAGAATTCCTCTCGGTCATGCTGCAGCTGTCTGATCTGGCTGTGGAGCTTGGTTACCATAGTGTCACGCTGCTCCTGGAGCTGATTGTATCTAGCTTGTTCTTTCTGCAGACTAACCTTCCACATCTGGATGTCCTTCTCTTGTAACTTCAACTGATCTTTCTAGCAGAGACCAGAAATGTCATCATTTTAGCTGTCTTCCAACACAGGCAATTTAACACACACTGCGAACATTTCATCTGAATAGTCATAAGCTACCCTGAAAATGTAACTAACTACAGACCAAAACTCTTAGAGCTCACTACTGTCTTACTTGGCCTTAGGTCAAGGTTTTCCAAATTTTACATTAAGCAAATGGATCTTAAGTTGCTTAAATAAATCTTCTCAGGGATCAGTTTGCTTCCAATACTTTCAAAAGTCTGACTACCAACACTGGAATAAAATCTCTCAAACATGGTACTAAGTTCACTGAAACGATGAGCATTTACTGAATGCTTGCAGTGTGCTGGGCGCTCAGCAAGGGCTTACCGACATAATTTCTTTTAACCATCACAACTTAAAGAGCAGGTGCTGCTATTGTTATTTCCATTTTATAGCATGGCTAACAGAGGCTTCAAGAGGCCACGTTACTTTTCTAAGGTAACACTGGTAGAGCCAAGATTCAAACTCCAGGCCTGACTGGCTTCACACCCGCTGTACAATACACGCTTCAGTTTTGTGCCATGAAATAGCTTTACAAGAGTTGGTTTTACATTTGGAGAAATAAAATCATCTTCTGACCCTTCATCATCATGGCCAGTTACATGCAAACATACACACACAAAATCACTTGTCCCCACGGTTTCTGAGAATTATGAGGGAATTCCGAGGTGTCACCATTCATGTCTTAATCTCAAGCGACCTGCCCAAAGGAGTGGGAAGGACTGGGAACTCTGACCTCCTCGGCTGCTGTGCTTTATAAGCTATCATGCTGACCCAAAACAAAACAAAAAGCAAGCTCCACCTGTCCCCTCCCCAGTCCTCACCATGGCAGCATTATGTTCCTCCAGAGCTGCTGCTTTGATCACCTTGCGGAGGAGCCGCCTGTTCCGGAGGGCATGCTGCTGCCTCTTAAAACGCTCATAGAGTAACTGGTTGTGCAGTAAAAGCAACTGGTCTCGGAGGGTGCGGATCTCATCTGAAGGAGGAGAGCCTGATTGTAAAGCAGAGGGAGGGTGGCAGAAATGCCTTTTACAGATGGTTCAATCAAGCCCCCTTCCCATGTGTTGTTAGCTTAACAAACACAATTCTTTAAAAACAAATCACCACTCTCTTTGCAAATGACCACTTGACTCCCAGCAACAGCAGGGGGGAAAGTATGGACTATGTGTCTCCCCCGTGAAGGAATGCAAAAGGTCATATCATGTGGGATGACTCTTTGAGAGCCTGCTTTCCTTTCCCCACAAATCTAGATCACGCATTTCAGATGCCCTGTTTCTCAAGACACTTCCTTCGCTGTGTGTTCTCCCCCAGGAAGATGCTTCACTCTGGTCTTCTCCAGGGAAGCCTGGCAGGAAGTCTGTATTTTGCACTTATACTCTCAAGCGCATAGTACTTGCCACTTTTCAAAAATAAGAAATGCTGACTTGGCAACACTTGAGATCCTTTAGCCAAGCAGATAGCCTGGCCGGAGCAATAGCCAAGGGGAGATCTGTTTCCCAGAGGGCACCTCCTTCAAGGACAGAAAGGGCAACAAGCAAGCAGGAACCATGTGGGCTGGATTTGGAGCTAAAGTAACAACTTTACTTCCAAAGTGGGTCCAGTCGACAGACTTGCTGGGTAAAGGCAACCTAGGAAGAAAGTTTTTGAGTAACAAAGTTACCGATCTTACCAAGAAAAAAACGTATCTGGACTTTTATTTGCAGCAAAGTTAGATCACTTCCTTGTGGTCAAAATCTGCAATGGCATAAGAATGTTTCAAACTCCAGGTCCACAGAGAGTTAGAGGAGAAGCCTACACTGGACACAATGGGAGGCGGCCCTCGCCCCACTGCCTAGGACCTGTGTTGTTAGCTTAACACAGTCCTTTAAAAAACAAATCCAGAGCGGAGAGGGTTGCAGGCTGAGCTGCACTGCATACACCGTGGCCTCCGTTTCTGGGGCCAGCTCTCCAGAGAAACTGAGTAGTCAAACACACTGAGAGCCGTTTTCAACCCTGTCTGTTGAAATATACAGGGAGTACACTCTGTTGTAAAGCTATGTCACTCCGATTTAAGGAAAAAGTAGGTAATTTACCTAAGCCTATCATACCAAATCTCGTTTAAAAAGAGGGAGCTTAAATACTATAATCCCTGTCAAATTCCACCATAGCATAGTATATAAGAAGAAAAATAAAAATATTCCCCAAGCACCTGTAAAGTAGCTAATAAAAGACGGATGGGAAACCGTTTCTCAGCTAGAGTCCTTTCTATGAAAACTTGGGTGCCTCAGGGGGTCTGGAGGGGATGTCAGGCCATCTGAACTTGCATAAAATGCTGATGATTTTATCTCCACCTAATGAACTATGATACCAAAATAGAAAATAATAATAATAATCTGTAGCTAGAGAGGGAAACACTGTGACAAATATTCTTATATTCTTTGAAATACCATAACCTCATTTTCAGCCTACAGCTTGCAGAGGGCACATATGAAAGCATTTGAGTGTCCTCATAGAACAGAGGCATAAAATGGCCTATATAAAAAGACTCATTTTGAAATGGACTGCTAAGGAATCATCCCAATTTAGGTGCACAGAGGTCACACATGGTCACATATATGAAGATGCAACAGCCTAGAAGGACATCTGACAAACAGCAGAGAACCAGCTGCCTCAAGGTGGGAGTGTGAAGAATGATTCTTGTTCCTCTCTTACACTTTCTGTACTTCACAATAAAATGGACCATTTAACACAGAAGAGAGTGCCCCAGTCCCTTACTTGTTCAGCTCCTTGCTGTGCGCGTCTGCTCCCTGCTGTATCAGTCTGTCCAGCACTTCCATTGGGGAGGTAGAGGGCACACCATCTTCCTCTGTGTTTCCTTTTGCTTTCTTTAACAGCTCCTCAGTCTTCCTGATGACAAAATGATGGGCTGTCTTTGGCAATGCCACCTCAAAAAGATGATCATACGGGGGAGGCTGCCCGCTTCCAAAGCCCACTCTCGTCGGAGGTGGAATTTTACAAGGACTGGGAGTGAAGATACTGGTCTCCAAAGAAGTCTGGCATTCCCTGTCTCCCGCAGGGCTTTCATCAGCACTGCCGCAGGGCAGGTCTATGGGAGTAAAGGCTTGCTTTGGTGTGTCAGGCCCAAGCTTGTCCAGGGAGGAGTGTAAAGGCTCAGGGTTCACGCTGGCGCCCTGAGAACTGGAGGCTGCCGAGTGGGTCTTCCGCTGAGAACCTGGGAGACTGTCTCGGTAAAAGGGAGAGTCAAAGCCTCCTCGAGGAACCACAGGCTCTGCCTCTGCTGTGGTGATCTCAGAAAGTTCTCTAGATATTGCAGCTGAGAGGAAGAGAGGAAACAAAAGAAATGGCAGTCGGTATTCCACCTGGGAAAGACTAGGCAGTTTGGGTGGCATGCTGCCACATGCCAGTGTCACTCAGAGAGAGGAGAAAAAGTGGCATCCGGCTGGACACAGTGGCTCACGCCTGTAATGCCAGAACTTTGGGAGGCTGAGGAGGGAGGATCACTTGAGCCCAGGAGTTAGAGACCAGCCTGGACAACATAGGGAGATCCCATCTCTACAAAAAATACAATAAAAATCAGCTGAGCATCGTGGTGTATGCCTGTGGTCCCAGCTACTCAGGAGGCTGAGGTGGGC
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Task1_train_13409
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A variant was discovered on Chromosome 9, affecting TSC1 (TSC complex subunit 1). What is its functional impact — neutral or pathogenic? State the disease if pathogenic.
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Pathogenic; Tuberous sclerosis 1
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CCTGGCCTGTATAACTTGTCTGTACTTAGCTTGTCTTAACTACATACTGATGAAATTCCTACTCTCCCTCCTCTGTCTGATCAGCAGAGGACATTCATTTTATCCCACAGAAGGATTCTGTCTGACCTATTCCTGAGAGCTGAAAGCAGGCGCAGAGAGCAGCTTCCCTGCCTGCCATATTTCACGCATGTCCAGTGCCTTGCCCTTGCTAGAAGCCTTGCCAGACGCTCTGATGAGGGTAAGCCTTGTGTTTCCCAGACTCATTCATGACCTTGTGCACTGACTTCCCAGAAGGGGCTGTGAAACCTCAGGGACAGTGAAACCACACCAAGACTCAGATGCGCTGGTCCTCCTCTCATCTCCTGGAAACCTTCAACTACTAGTGACAAGACTGCCCTTCTCTTAACCAGGCTTTGCCTCCTAGTCAACTAGCTTTTCAAAACAAAGCAATACCTACAGTAAAACTACAAAGAAAAGCAAGAGAATGATTAAAAGCAACAATGGTAGTTGTCTCTGAGGTAGTAGGGAGAAAAGAGGGGTTCTCCACGGGGAGCCTCTAAGGTACCAGTAATGTTCTGTTTTTTTTAAGCTAGGTGCCAGCTACATGTGTTTTTGTGTTATTATTAAACTTTACATACACATTTTCTATACTTCTCTACATATAATCTCACAATAAACTGCTTTAAGCTGGCTGAGGCTCTGTGTGGTAGAGGCAGTGTCTGTGGTGAGGTGAGATTCGCTGTTGGGGGATCAGGCAGTGAGCTAGCTTTTTCAGCAGGAGATCCCTAAGTGTCAGTATCCATGGGTCAGTTTCCCCAAAAAGGGCCAGCTCCCCTAACTGGGGAGCATAATAAGCCTGGCTACCAGGCAGAGACAAGCAGAGGGAAGGAGCTGGGCCTCCCACAGCTCAGTCTGTAAATTTCCTTTATCTCCCTCGCTCAGTCTTACCCTCAGTTCCACTCTCCACTGTGCCTGGAATCCTTCAATCAAGGGACTCAAAGGTTCGGTTTTTCCAGAGAACATACCTGGGGGCCTCTGTAGGGCCCTGGGGAGGATGGTATAGTCAACTGGCTTTGCAGAATGGAGAAAGGACCTCAGGGACTCCAAATACTTAATATAGGACTCCCTGAAGTCCTTTCTCCATTTTGCAAAGCCAGATTTATATATATGCTAAATTGTTTTTCTGCAGTCCCCTTGTTTTTAGCCATATGCTTCACCTCCTGCATCGCCCCATCACTGGCACTACTGAGGTGTAAGCCTTTCTGGGGGACAGGCACTTGTGCTGCAACTTTCTCCACTCTGCTAAATGTTATTAGTCCTCCGCCTGTGAAGAGTATGTTTTAAACTCACACAAATTTTAGCTGTATGAGTGCTTCCAAGTGGACTGATTCTGTAAGTAGAACATCTATATTCCCAAATATACCTCAACAGGGATTACCTCCTAGATCACATTTTCAATCTCTCGAAAGATTCTTTAAAATTTTGACACTAGTTTCTATACCTTCGAGGGTCCAGTTCATGGTCCTTGGATCCAGTCACTAATTCCGGATGAATTCGCACATGCTCCATCATTGGCTAGAAGAGTTGGGTTGACAAATTATAAAGGGCTGAATGTTTGTGGAACATCCAAATGATGGAATATTAGTTGACAATTAAAAGGAATGAAGTACTGATACATGTTATAACACAGATGGAACCTTGAGAACATTATACTGAGTGAAAGAAGCCAGTCACAAAAGACCACATATTATATGATCCCATTTATACAAAATGTCCAGAATAGGCAAATCTATTAAGACAGAAAACAGATTAGTGGCTGCCTAGGGATTGGAGTGGCGAGGAAGAAAACTGAATTTCTTTTCAAAATTTCCCTGTCTGCCGTTAAATACAAAAGGTATAAATGCAGCCTATCTAAACAGTATACTAAGTAGCAAACAAACAAGCAGTTTCAATTTACCTTGACCACTTCTTCAAAAGTCTCCAGGTTTTCTTTCATACTGTAATGAGAACGCAAAAAGGAGACGAAGTTGCAAGGGTACATTCCATAAAGGCGATGAAAGAGTGCGTACACACTGGCATGGAGATGGACGAGATAGACTTCCGCCACGTGGCCTAGAAAAGGAACCCGTTGAGAAGAGCCTCTTAGTTGGAGACAGATTGAGGAGTGCAAAACAGCTATAAACAAGTGGCTGCCAGCAGGACTTTTTATCTATGTATATTCCCACCTCACTCCAAAGACAGGAAGAGTGGTTTTCTAAAATGCAAACAAATCCGAACACACCAGACACCCTTATTTCAAATCCATCAATGGCTCCCTATAAGTTTTGGATAAATTCCAGTCTACTAGTATGATCCATGAAGGCTCTTCCTGATCTAACTTCTGCCCTCCTCTTCAGCCACTGCCCAAAAAGGATCCCAAACATTCTCACAATACTGAACTATCTTTATGATGATAGCTCTCTGTAAAATTTATACTTTTCCATTGCCGAATTCAGTACGAGCTTCTTGAGAAAAAAACTGTCTTACTTATTTCTCGGTGCTTTGCACTGGACCTGATATTTAACAAGCACTCAATATTTACAGAATGAATGTGTGAGACTCTTTTAAATCAGTATGTAGTCTTAGCTATGCAGATTTATAACTACAGAGTGAAAAAAACTATTATCTAGAAATTAGCTTAAAGAACTAAGAGTGAAAGAAATTGAACATCTTAATTTAGCCTTACCTAGACCCTGTGGAAACCCACGGCCACAGTATACATAAAGGTCCTCCAAAATAATGGACAGACCATTCCTTTTTCACAAAGGTCCTACTAAACAAGCAGGCACCACGTGGGCCTATGCTTGTAATTTAATCCTATACAGGAAGGCACGGTGTTCTGTCTCACAGGTCTGACATACTTCACCCTTTTGATAGAAATACCTCACACTGGGATAACCCAAAGATTCCAAATTTCACATGCTTACAGCTTCTGATCCCTTTGATAGAGCTCTGCTACCTGCCGATAGGGGAAAAAAAAAAACCACTGCATTTGAAGCTGGAGTGCTAATCAGGACACACCGCATTTCCCTCTGACTCCTACAGGTACAACGAGTGGGTTCTCAGAATCTGACATTTGCGTTCTGTCACAACAGAGCAGCCAAGGAAGACAGAAATGTCCCACAAGCTTAGTCCTGTACTGCTGCAATACAGACGGAGGCTGTTTTTCAGTTTATCAACAATCATAAAGTTTTACATCCTACCACTCAATTTCTCTGACGACTAATCCTTTTAAGCCAAGAAAATAAAAAAAGTTATCTCAACAGTCATGTTTCTTCTATGTGCCTGTAGTGGATGCACCCAAGATATTCCCTCATCTGTCTGGTGAAAACCACTCATTTCAGCTATAAAAGTCTACATGTCCATTCCTTACAGCATATGAGCAATTAATCAATAATGAAAGCATTCACCTCACAGGGCCCAACAGGTATATGAGGAGATCTGTACCTGGTTTCTTCAGGCACCATGATGACAGACGGCCAAAAATGTCAAAGAAATCAAGAAGATGCTGTTTCCCAGACTGTGGAATCATTGGTAGCATGGTTATCAACACCAAGACGCCTGTTGTGAGGACAACGACGTCAGTGTCCATCTGCAGGAGAAAAGGTCAAACAGGAAACGTCTGTCAGGCACTGGCACCAGGATCGGCATTGTACAGTACATGAAGAGGCTCTAAACACTGAGAGAATCACAAATCACAAGTTGACTCACGTACTCATTTCCCTATCCCTAAGGATTACTGAAGGGATAACATTCAAACAGACTCAACAGAACACTGAGCCCCAACTCTACTGTAATGAGTCAGTGAGGACCATTTACAACACACCTATGCAAAGGCATCCGGGAGACGAGTTCAAACTTGACTTGGGGACACCCAAGTCCTGCAGCCTTAGGATGCCCTATTGATAGCAGTTGGATGAAAACAAAAGGAGCTGCTTTTCAACAAAACACAGGAGCACTGCTCTGTTTCATTCATTCAACCAAATCCTAAGATACTTACTTTTTGTTAATTAAAAAAAAAAAAAACTGCACATTGACAAGTAACTTACTATTTTTT
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CCTGGCCTGTATAACTTGTCTGTACTTAGCTTGTCTTAACTACATACTGATGAAATTCCTACTCTCCCTCCTCTGTCTGATCAGCAGAGGACATTCATTTTATCCCACAGAAGGATTCTGTCTGACCTATTCCTGAGAGCTGAAAGCAGGCGCAGAGAGCAGCTTCCCTGCCTGCCATATTTCACGCATGTCCAGTGCCTTGCCCTTGCTAGAAGCCTTGCCAGACGCTCTGATGAGGGTAAGCCTTGTGTTTCCCAGACTCATTCATGACCTTGTGCACTGACTTCCCAGAAGGGGCTGTGAAACCTCAGGGACAGTGAAACCACACCAAGACTCAGATGCGCTGGTCCTCCTCTCATCTCCTGGAAACCTTCAACTACTAGTGACAAGACTGCCCTTCTCTTAACCAGGCTTTGCCTCCTAGTCAACTAGCTTTTCAAAACAAAGCAATACCTACAGTAAAACTACAAAGAAAAGCAAGAGAATGATTAAAAGCAACAATGGTAGTTGTCTCTGAGGTAGTAGGGAGAAAAGAGGGGTTCTCCACGGGGAGCCTCTAAGGTACCAGTAATGTTCTGTTTTTTTTAAGCTAGGTGCCAGCTACATGTGTTTTTGTGTTATTATTAAACTTTACATACACATTTTCTATACTTCTCTACATATAATCTCACAATAAACTGCTTTAAGCTGGCTGAGGCTCTGTGTGGTAGAGGCAGTGTCTGTGGTGAGGTGAGATTCGCTGTTGGGGGATCAGGCAGTGAGCTAGCTTTTTCAGCAGGAGATCCCTAAGTGTCAGTATCCATGGGTCAGTTTCCCCAAAAAGGGCCAGCTCCCCTAACTGGGGAGCATAATAAGCCTGGCTACCAGGCAGAGACAAGCAGAGGGAAGGAGCTGGGCCTCCCACAGCTCAGTCTGTAAATTTCCTTTATCTCCCTCGCTCAGTCTTACCCTCAGTTCCACTCTCCACTGTGCCTGGAATCCTTCAATCAAGGGACTCAAAGGTTCGGTTTTTCCAGAGAACATACCTGGGGGCCTCTGTAGGGCCCTGGGGAGGATGGTATAGTCAACTGGCTTTGCAGAATGGAGAAAGGACCTCAGGGACTCCAAATACTTAATATAGGACTCCCTGAAGTCCTTTCTCCATTTTGCAAAGCCAGATTTATATATATGCTAAATTGTTTTTCTGCAGTCCCCTTGTTTTTAGCCATATGCTTCACCTCCTGCATCGCCCCATCACTGGCACTACTGAGGTGTAAGCCTTTCTGGGGGACAGGCACTTGTGCTGCAACTTTCTCCACTCTGCTAAATGTTATTAGTCCTCCGCCTGTGAAGAGTATGTTTTAAACTCACACAAATTTTAGCTGTATGAGTGCTTCCAAGTGGACTGATTCTGTAAGTAGAACATCTATATTCCCAAATATACCTCAACAGGGATTACCTCCTAGATCACATTTTCAATCTCTCGAAAGATTCTTTAAAATTTTGACACTAGTTTCTATACCTTCGAGGGTCCAGTTCATGGTCCTTGGATCCAGTCACTAATTCCGGATGAATTCGCACATGCTCCATCATTGGCTAGAAGAGTTGGGTTGACAAATTATAAAGGGCTGAATGTTTGTGGAACATCCAAATGATGGAATATTAGTTGACAATTAAAAGGAATGAAGTACTGATACATGTTATAACACAGATGGAACCTTGAGAACATTATACTGAGTGAAAGAAGCCAGTCACAAAAGACCACATATTATATGATCCCATTTATACAAAATGTCCAGAATAGGCAAATCTATTAAGACAGAAAACAGATTAGTGGCTGCCTAGGGATTGGAGTGGCGAGGAAGAAAACTGAATTTCTTTTCAAAATTTCCCTGTCTGCCGTTAAATACAAAAGGTATAAATGCAGCCTATCTAAACAGTATACTAAGTAGCAAACAAACAAGCAGTTTCAATTTACCTTGACCACTTCTTCAAAAGTCTCCAGGTTTTCTTTCATACTGTAATGAGAACGCAAAAAGGAGACGAAGTTGCAAGGGTACATTCCATAACGGCGATGAAAGAGTGCGTACACACTGGCATGGAGATGGACGAGATAGACTTCCGCCACGTGGCCTAGAAAAGGAACCCGTTGAGAAGAGCCTCTTAGTTGGAGACAGATTGAGGAGTGCAAAACAGCTATAAACAAGTGGCTGCCAGCAGGACTTTTTATCTATGTATATTCCCACCTCACTCCAAAGACAGGAAGAGTGGTTTTCTAAAATGCAAACAAATCCGAACACACCAGACACCCTTATTTCAAATCCATCAATGGCTCCCTATAAGTTTTGGATAAATTCCAGTCTACTAGTATGATCCATGAAGGCTCTTCCTGATCTAACTTCTGCCCTCCTCTTCAGCCACTGCCCAAAAAGGATCCCAAACATTCTCACAATACTGAACTATCTTTATGATGATAGCTCTCTGTAAAATTTATACTTTTCCATTGCCGAATTCAGTACGAGCTTCTTGAGAAAAAAACTGTCTTACTTATTTCTCGGTGCTTTGCACTGGACCTGATATTTAACAAGCACTCAATATTTACAGAATGAATGTGTGAGACTCTTTTAAATCAGTATGTAGTCTTAGCTATGCAGATTTATAACTACAGAGTGAAAAAAACTATTATCTAGAAATTAGCTTAAAGAACTAAGAGTGAAAGAAATTGAACATCTTAATTTAGCCTTACCTAGACCCTGTGGAAACCCACGGCCACAGTATACATAAAGGTCCTCCAAAATAATGGACAGACCATTCCTTTTTCACAAAGGTCCTACTAAACAAGCAGGCACCACGTGGGCCTATGCTTGTAATTTAATCCTATACAGGAAGGCACGGTGTTCTGTCTCACAGGTCTGACATACTTCACCCTTTTGATAGAAATACCTCACACTGGGATAACCCAAAGATTCCAAATTTCACATGCTTACAGCTTCTGATCCCTTTGATAGAGCTCTGCTACCTGCCGATAGGGGAAAAAAAAAAACCACTGCATTTGAAGCTGGAGTGCTAATCAGGACACACCGCATTTCCCTCTGACTCCTACAGGTACAACGAGTGGGTTCTCAGAATCTGACATTTGCGTTCTGTCACAACAGAGCAGCCAAGGAAGACAGAAATGTCCCACAAGCTTAGTCCTGTACTGCTGCAATACAGACGGAGGCTGTTTTTCAGTTTATCAACAATCATAAAGTTTTACATCCTACCACTCAATTTCTCTGACGACTAATCCTTTTAAGCCAAGAAAATAAAAAAAGTTATCTCAACAGTCATGTTTCTTCTATGTGCCTGTAGTGGATGCACCCAAGATATTCCCTCATCTGTCTGGTGAAAACCACTCATTTCAGCTATAAAAGTCTACATGTCCATTCCTTACAGCATATGAGCAATTAATCAATAATGAAAGCATTCACCTCACAGGGCCCAACAGGTATATGAGGAGATCTGTACCTGGTTTCTTCAGGCACCATGATGACAGACGGCCAAAAATGTCAAAGAAATCAAGAAGATGCTGTTTCCCAGACTGTGGAATCATTGGTAGCATGGTTATCAACACCAAGACGCCTGTTGTGAGGACAACGACGTCAGTGTCCATCTGCAGGAGAAAAGGTCAAACAGGAAACGTCTGTCAGGCACTGGCACCAGGATCGGCATTGTACAGTACATGAAGAGGCTCTAAACACTGAGAGAATCACAAATCACAAGTTGACTCACGTACTCATTTCCCTATCCCTAAGGATTACTGAAGGGATAACATTCAAACAGACTCAACAGAACACTGAGCCCCAACTCTACTGTAATGAGTCAGTGAGGACCATTTACAACACACCTATGCAAAGGCATCCGGGAGACGAGTTCAAACTTGACTTGGGGACACCCAAGTCCTGCAGCCTTAGGATGCCCTATTGATAGCAGTTGGATGAAAACAAAAGGAGCTGCTTTTCAACAAAACACAGGAGCACTGCTCTGTTTCATTCATTCAACCAAATCCTAAGATACTTACTTTTTGTTAATTAAAAAAAAAAAAAACTGCACATTGACAAGTAACTTACTATTTTTT
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Task1_train_13410
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This sequence change occurs on Chromosome 9, altering TSC1 (TSC complex subunit 1). What is the medical significance of this variant — is it benign or linked to a disease?
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Pathogenic; Tuberous sclerosis 1
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TCTTAACTACATACTGATGAAATTCCTACTCTCCCTCCTCTGTCTGATCAGCAGAGGACATTCATTTTATCCCACAGAAGGATTCTGTCTGACCTATTCCTGAGAGCTGAAAGCAGGCGCAGAGAGCAGCTTCCCTGCCTGCCATATTTCACGCATGTCCAGTGCCTTGCCCTTGCTAGAAGCCTTGCCAGACGCTCTGATGAGGGTAAGCCTTGTGTTTCCCAGACTCATTCATGACCTTGTGCACTGACTTCCCAGAAGGGGCTGTGAAACCTCAGGGACAGTGAAACCACACCAAGACTCAGATGCGCTGGTCCTCCTCTCATCTCCTGGAAACCTTCAACTACTAGTGACAAGACTGCCCTTCTCTTAACCAGGCTTTGCCTCCTAGTCAACTAGCTTTTCAAAACAAAGCAATACCTACAGTAAAACTACAAAGAAAAGCAAGAGAATGATTAAAAGCAACAATGGTAGTTGTCTCTGAGGTAGTAGGGAGAAAAGAGGGGTTCTCCACGGGGAGCCTCTAAGGTACCAGTAATGTTCTGTTTTTTTTAAGCTAGGTGCCAGCTACATGTGTTTTTGTGTTATTATTAAACTTTACATACACATTTTCTATACTTCTCTACATATAATCTCACAATAAACTGCTTTAAGCTGGCTGAGGCTCTGTGTGGTAGAGGCAGTGTCTGTGGTGAGGTGAGATTCGCTGTTGGGGGATCAGGCAGTGAGCTAGCTTTTTCAGCAGGAGATCCCTAAGTGTCAGTATCCATGGGTCAGTTTCCCCAAAAAGGGCCAGCTCCCCTAACTGGGGAGCATAATAAGCCTGGCTACCAGGCAGAGACAAGCAGAGGGAAGGAGCTGGGCCTCCCACAGCTCAGTCTGTAAATTTCCTTTATCTCCCTCGCTCAGTCTTACCCTCAGTTCCACTCTCCACTGTGCCTGGAATCCTTCAATCAAGGGACTCAAAGGTTCGGTTTTTCCAGAGAACATACCTGGGGGCCTCTGTAGGGCCCTGGGGAGGATGGTATAGTCAACTGGCTTTGCAGAATGGAGAAAGGACCTCAGGGACTCCAAATACTTAATATAGGACTCCCTGAAGTCCTTTCTCCATTTTGCAAAGCCAGATTTATATATATGCTAAATTGTTTTTCTGCAGTCCCCTTGTTTTTAGCCATATGCTTCACCTCCTGCATCGCCCCATCACTGGCACTACTGAGGTGTAAGCCTTTCTGGGGGACAGGCACTTGTGCTGCAACTTTCTCCACTCTGCTAAATGTTATTAGTCCTCCGCCTGTGAAGAGTATGTTTTAAACTCACACAAATTTTAGCTGTATGAGTGCTTCCAAGTGGACTGATTCTGTAAGTAGAACATCTATATTCCCAAATATACCTCAACAGGGATTACCTCCTAGATCACATTTTCAATCTCTCGAAAGATTCTTTAAAATTTTGACACTAGTTTCTATACCTTCGAGGGTCCAGTTCATGGTCCTTGGATCCAGTCACTAATTCCGGATGAATTCGCACATGCTCCATCATTGGCTAGAAGAGTTGGGTTGACAAATTATAAAGGGCTGAATGTTTGTGGAACATCCAAATGATGGAATATTAGTTGACAATTAAAAGGAATGAAGTACTGATACATGTTATAACACAGATGGAACCTTGAGAACATTATACTGAGTGAAAGAAGCCAGTCACAAAAGACCACATATTATATGATCCCATTTATACAAAATGTCCAGAATAGGCAAATCTATTAAGACAGAAAACAGATTAGTGGCTGCCTAGGGATTGGAGTGGCGAGGAAGAAAACTGAATTTCTTTTCAAAATTTCCCTGTCTGCCGTTAAATACAAAAGGTATAAATGCAGCCTATCTAAACAGTATACTAAGTAGCAAACAAACAAGCAGTTTCAATTTACCTTGACCACTTCTTCAAAAGTCTCCAGGTTTTCTTTCATACTGTAATGAGAACGCAAAAAGGAGACGAAGTTGCAAGGGTACATTCCATAAAGGCGATGAAAGAGTGCGTACACACTGGCATGGAGATGGACGAGATAGACTTCCGCCACGTGGCCTAGAAAAGGAACCCGTTGAGAAGAGCCTCTTAGTTGGAGACAGATTGAGGAGTGCAAAACAGCTATAAACAAGTGGCTGCCAGCAGGACTTTTTATCTATGTATATTCCCACCTCACTCCAAAGACAGGAAGAGTGGTTTTCTAAAATGCAAACAAATCCGAACACACCAGACACCCTTATTTCAAATCCATCAATGGCTCCCTATAAGTTTTGGATAAATTCCAGTCTACTAGTATGATCCATGAAGGCTCTTCCTGATCTAACTTCTGCCCTCCTCTTCAGCCACTGCCCAAAAAGGATCCCAAACATTCTCACAATACTGAACTATCTTTATGATGATAGCTCTCTGTAAAATTTATACTTTTCCATTGCCGAATTCAGTACGAGCTTCTTGAGAAAAAAACTGTCTTACTTATTTCTCGGTGCTTTGCACTGGACCTGATATTTAACAAGCACTCAATATTTACAGAATGAATGTGTGAGACTCTTTTAAATCAGTATGTAGTCTTAGCTATGCAGATTTATAACTACAGAGTGAAAAAAACTATTATCTAGAAATTAGCTTAAAGAACTAAGAGTGAAAGAAATTGAACATCTTAATTTAGCCTTACCTAGACCCTGTGGAAACCCACGGCCACAGTATACATAAAGGTCCTCCAAAATAATGGACAGACCATTCCTTTTTCACAAAGGTCCTACTAAACAAGCAGGCACCACGTGGGCCTATGCTTGTAATTTAATCCTATACAGGAAGGCACGGTGTTCTGTCTCACAGGTCTGACATACTTCACCCTTTTGATAGAAATACCTCACACTGGGATAACCCAAAGATTCCAAATTTCACATGCTTACAGCTTCTGATCCCTTTGATAGAGCTCTGCTACCTGCCGATAGGGGAAAAAAAAAAACCACTGCATTTGAAGCTGGAGTGCTAATCAGGACACACCGCATTTCCCTCTGACTCCTACAGGTACAACGAGTGGGTTCTCAGAATCTGACATTTGCGTTCTGTCACAACAGAGCAGCCAAGGAAGACAGAAATGTCCCACAAGCTTAGTCCTGTACTGCTGCAATACAGACGGAGGCTGTTTTTCAGTTTATCAACAATCATAAAGTTTTACATCCTACCACTCAATTTCTCTGACGACTAATCCTTTTAAGCCAAGAAAATAAAAAAAGTTATCTCAACAGTCATGTTTCTTCTATGTGCCTGTAGTGGATGCACCCAAGATATTCCCTCATCTGTCTGGTGAAAACCACTCATTTCAGCTATAAAAGTCTACATGTCCATTCCTTACAGCATATGAGCAATTAATCAATAATGAAAGCATTCACCTCACAGGGCCCAACAGGTATATGAGGAGATCTGTACCTGGTTTCTTCAGGCACCATGATGACAGACGGCCAAAAATGTCAAAGAAATCAAGAAGATGCTGTTTCCCAGACTGTGGAATCATTGGTAGCATGGTTATCAACACCAAGACGCCTGTTGTGAGGACAACGACGTCAGTGTCCATCTGCAGGAGAAAAGGTCAAACAGGAAACGTCTGTCAGGCACTGGCACCAGGATCGGCATTGTACAGTACATGAAGAGGCTCTAAACACTGAGAGAATCACAAATCACAAGTTGACTCACGTACTCATTTCCCTATCCCTAAGGATTACTGAAGGGATAACATTCAAACAGACTCAACAGAACACTGAGCCCCAACTCTACTGTAATGAGTCAGTGAGGACCATTTACAACACACCTATGCAAAGGCATCCGGGAGACGAGTTCAAACTTGACTTGGGGACACCCAAGTCCTGCAGCCTTAGGATGCCCTATTGATAGCAGTTGGATGAAAACAAAAGGAGCTGCTTTTCAACAAAACACAGGAGCACTGCTCTGTTTCATTCATTCAACCAAATCCTAAGATACTTACTTTTTGTTAATTAAAAAAAAAAAAAACTGCACATTGACAAGTAACTTACTATTTTTTAAAGAACTACAACAGAAGTATAATTGAAGGAGA
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TCTTAACTACATACTGATGAAATTCCTACTCTCCCTCCTCTGTCTGATCAGCAGAGGACATTCATTTTATCCCACAGAAGGATTCTGTCTGACCTATTCCTGAGAGCTGAAAGCAGGCGCAGAGAGCAGCTTCCCTGCCTGCCATATTTCACGCATGTCCAGTGCCTTGCCCTTGCTAGAAGCCTTGCCAGACGCTCTGATGAGGGTAAGCCTTGTGTTTCCCAGACTCATTCATGACCTTGTGCACTGACTTCCCAGAAGGGGCTGTGAAACCTCAGGGACAGTGAAACCACACCAAGACTCAGATGCGCTGGTCCTCCTCTCATCTCCTGGAAACCTTCAACTACTAGTGACAAGACTGCCCTTCTCTTAACCAGGCTTTGCCTCCTAGTCAACTAGCTTTTCAAAACAAAGCAATACCTACAGTAAAACTACAAAGAAAAGCAAGAGAATGATTAAAAGCAACAATGGTAGTTGTCTCTGAGGTAGTAGGGAGAAAAGAGGGGTTCTCCACGGGGAGCCTCTAAGGTACCAGTAATGTTCTGTTTTTTTTAAGCTAGGTGCCAGCTACATGTGTTTTTGTGTTATTATTAAACTTTACATACACATTTTCTATACTTCTCTACATATAATCTCACAATAAACTGCTTTAAGCTGGCTGAGGCTCTGTGTGGTAGAGGCAGTGTCTGTGGTGAGGTGAGATTCGCTGTTGGGGGATCAGGCAGTGAGCTAGCTTTTTCAGCAGGAGATCCCTAAGTGTCAGTATCCATGGGTCAGTTTCCCCAAAAAGGGCCAGCTCCCCTAACTGGGGAGCATAATAAGCCTGGCTACCAGGCAGAGACAAGCAGAGGGAAGGAGCTGGGCCTCCCACAGCTCAGTCTGTAAATTTCCTTTATCTCCCTCGCTCAGTCTTACCCTCAGTTCCACTCTCCACTGTGCCTGGAATCCTTCAATCAAGGGACTCAAAGGTTCGGTTTTTCCAGAGAACATACCTGGGGGCCTCTGTAGGGCCCTGGGGAGGATGGTATAGTCAACTGGCTTTGCAGAATGGAGAAAGGACCTCAGGGACTCCAAATACTTAATATAGGACTCCCTGAAGTCCTTTCTCCATTTTGCAAAGCCAGATTTATATATATGCTAAATTGTTTTTCTGCAGTCCCCTTGTTTTTAGCCATATGCTTCACCTCCTGCATCGCCCCATCACTGGCACTACTGAGGTGTAAGCCTTTCTGGGGGACAGGCACTTGTGCTGCAACTTTCTCCACTCTGCTAAATGTTATTAGTCCTCCGCCTGTGAAGAGTATGTTTTAAACTCACACAAATTTTAGCTGTATGAGTGCTTCCAAGTGGACTGATTCTGTAAGTAGAACATCTATATTCCCAAATATACCTCAACAGGGATTACCTCCTAGATCACATTTTCAATCTCTCGAAAGATTCTTTAAAATTTTGACACTAGTTTCTATACCTTCGAGGGTCCAGTTCATGGTCCTTGGATCCAGTCACTAATTCCGGATGAATTCGCACATGCTCCATCATTGGCTAGAAGAGTTGGGTTGACAAATTATAAAGGGCTGAATGTTTGTGGAACATCCAAATGATGGAATATTAGTTGACAATTAAAAGGAATGAAGTACTGATACATGTTATAACACAGATGGAACCTTGAGAACATTATACTGAGTGAAAGAAGCCAGTCACAAAAGACCACATATTATATGATCCCATTTATACAAAATGTCCAGAATAGGCAAATCTATTAAGACAGAAAACAGATTAGTGGCTGCCTAGGGATTGGAGTGGCGAGGAAGAAAACTGAATTTCTTTTCAAAATTTCCCTGTCTGCCGTTAAATACAAAAGGTATAAATGCAGCCTATCTAAACAGTATACTAAGTAGCAAACAAACAAGCAGTTTCAATTTACCTTGACCACTTCTTCAAAAGTCTCCAGGTTTTCTTTCATACTGTAATGAGAACGCAAAAAGGAGACGAAGTTGCAAGGGTACATTCCATAAAGGCGATGAAAGAGTGCGTACACACTGGCATGGGGATGGACGAGATAGACTTCCGCCACGTGGCCTAGAAAAGGAACCCGTTGAGAAGAGCCTCTTAGTTGGAGACAGATTGAGGAGTGCAAAACAGCTATAAACAAGTGGCTGCCAGCAGGACTTTTTATCTATGTATATTCCCACCTCACTCCAAAGACAGGAAGAGTGGTTTTCTAAAATGCAAACAAATCCGAACACACCAGACACCCTTATTTCAAATCCATCAATGGCTCCCTATAAGTTTTGGATAAATTCCAGTCTACTAGTATGATCCATGAAGGCTCTTCCTGATCTAACTTCTGCCCTCCTCTTCAGCCACTGCCCAAAAAGGATCCCAAACATTCTCACAATACTGAACTATCTTTATGATGATAGCTCTCTGTAAAATTTATACTTTTCCATTGCCGAATTCAGTACGAGCTTCTTGAGAAAAAAACTGTCTTACTTATTTCTCGGTGCTTTGCACTGGACCTGATATTTAACAAGCACTCAATATTTACAGAATGAATGTGTGAGACTCTTTTAAATCAGTATGTAGTCTTAGCTATGCAGATTTATAACTACAGAGTGAAAAAAACTATTATCTAGAAATTAGCTTAAAGAACTAAGAGTGAAAGAAATTGAACATCTTAATTTAGCCTTACCTAGACCCTGTGGAAACCCACGGCCACAGTATACATAAAGGTCCTCCAAAATAATGGACAGACCATTCCTTTTTCACAAAGGTCCTACTAAACAAGCAGGCACCACGTGGGCCTATGCTTGTAATTTAATCCTATACAGGAAGGCACGGTGTTCTGTCTCACAGGTCTGACATACTTCACCCTTTTGATAGAAATACCTCACACTGGGATAACCCAAAGATTCCAAATTTCACATGCTTACAGCTTCTGATCCCTTTGATAGAGCTCTGCTACCTGCCGATAGGGGAAAAAAAAAAACCACTGCATTTGAAGCTGGAGTGCTAATCAGGACACACCGCATTTCCCTCTGACTCCTACAGGTACAACGAGTGGGTTCTCAGAATCTGACATTTGCGTTCTGTCACAACAGAGCAGCCAAGGAAGACAGAAATGTCCCACAAGCTTAGTCCTGTACTGCTGCAATACAGACGGAGGCTGTTTTTCAGTTTATCAACAATCATAAAGTTTTACATCCTACCACTCAATTTCTCTGACGACTAATCCTTTTAAGCCAAGAAAATAAAAAAAGTTATCTCAACAGTCATGTTTCTTCTATGTGCCTGTAGTGGATGCACCCAAGATATTCCCTCATCTGTCTGGTGAAAACCACTCATTTCAGCTATAAAAGTCTACATGTCCATTCCTTACAGCATATGAGCAATTAATCAATAATGAAAGCATTCACCTCACAGGGCCCAACAGGTATATGAGGAGATCTGTACCTGGTTTCTTCAGGCACCATGATGACAGACGGCCAAAAATGTCAAAGAAATCAAGAAGATGCTGTTTCCCAGACTGTGGAATCATTGGTAGCATGGTTATCAACACCAAGACGCCTGTTGTGAGGACAACGACGTCAGTGTCCATCTGCAGGAGAAAAGGTCAAACAGGAAACGTCTGTCAGGCACTGGCACCAGGATCGGCATTGTACAGTACATGAAGAGGCTCTAAACACTGAGAGAATCACAAATCACAAGTTGACTCACGTACTCATTTCCCTATCCCTAAGGATTACTGAAGGGATAACATTCAAACAGACTCAACAGAACACTGAGCCCCAACTCTACTGTAATGAGTCAGTGAGGACCATTTACAACACACCTATGCAAAGGCATCCGGGAGACGAGTTCAAACTTGACTTGGGGACACCCAAGTCCTGCAGCCTTAGGATGCCCTATTGATAGCAGTTGGATGAAAACAAAAGGAGCTGCTTTTCAACAAAACACAGGAGCACTGCTCTGTTTCATTCATTCAACCAAATCCTAAGATACTTACTTTTTGTTAATTAAAAAAAAAAAAAACTGCACATTGACAAGTAACTTACTATTTTTTAAAGAACTACAACAGAAGTATAATTGAAGGAGA
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Task1_train_13411
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This gene mutation involves TSC1 (TSC complex subunit 1) on Chromosome 9. Is it associated with any clinical condition, or is it benign?
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Pathogenic; Tuberous sclerosis 1
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GAAAGATTCTTTAAAATTTTGACACTAGTTTCTATACCTTCGAGGGTCCAGTTCATGGTCCTTGGATCCAGTCACTAATTCCGGATGAATTCGCACATGCTCCATCATTGGCTAGAAGAGTTGGGTTGACAAATTATAAAGGGCTGAATGTTTGTGGAACATCCAAATGATGGAATATTAGTTGACAATTAAAAGGAATGAAGTACTGATACATGTTATAACACAGATGGAACCTTGAGAACATTATACTGAGTGAAAGAAGCCAGTCACAAAAGACCACATATTATATGATCCCATTTATACAAAATGTCCAGAATAGGCAAATCTATTAAGACAGAAAACAGATTAGTGGCTGCCTAGGGATTGGAGTGGCGAGGAAGAAAACTGAATTTCTTTTCAAAATTTCCCTGTCTGCCGTTAAATACAAAAGGTATAAATGCAGCCTATCTAAACAGTATACTAAGTAGCAAACAAACAAGCAGTTTCAATTTACCTTGACCACTTCTTCAAAAGTCTCCAGGTTTTCTTTCATACTGTAATGAGAACGCAAAAAGGAGACGAAGTTGCAAGGGTACATTCCATAAAGGCGATGAAAGAGTGCGTACACACTGGCATGGAGATGGACGAGATAGACTTCCGCCACGTGGCCTAGAAAAGGAACCCGTTGAGAAGAGCCTCTTAGTTGGAGACAGATTGAGGAGTGCAAAACAGCTATAAACAAGTGGCTGCCAGCAGGACTTTTTATCTATGTATATTCCCACCTCACTCCAAAGACAGGAAGAGTGGTTTTCTAAAATGCAAACAAATCCGAACACACCAGACACCCTTATTTCAAATCCATCAATGGCTCCCTATAAGTTTTGGATAAATTCCAGTCTACTAGTATGATCCATGAAGGCTCTTCCTGATCTAACTTCTGCCCTCCTCTTCAGCCACTGCCCAAAAAGGATCCCAAACATTCTCACAATACTGAACTATCTTTATGATGATAGCTCTCTGTAAAATTTATACTTTTCCATTGCCGAATTCAGTACGAGCTTCTTGAGAAAAAAACTGTCTTACTTATTTCTCGGTGCTTTGCACTGGACCTGATATTTAACAAGCACTCAATATTTACAGAATGAATGTGTGAGACTCTTTTAAATCAGTATGTAGTCTTAGCTATGCAGATTTATAACTACAGAGTGAAAAAAACTATTATCTAGAAATTAGCTTAAAGAACTAAGAGTGAAAGAAATTGAACATCTTAATTTAGCCTTACCTAGACCCTGTGGAAACCCACGGCCACAGTATACATAAAGGTCCTCCAAAATAATGGACAGACCATTCCTTTTTCACAAAGGTCCTACTAAACAAGCAGGCACCACGTGGGCCTATGCTTGTAATTTAATCCTATACAGGAAGGCACGGTGTTCTGTCTCACAGGTCTGACATACTTCACCCTTTTGATAGAAATACCTCACACTGGGATAACCCAAAGATTCCAAATTTCACATGCTTACAGCTTCTGATCCCTTTGATAGAGCTCTGCTACCTGCCGATAGGGGAAAAAAAAAAACCACTGCATTTGAAGCTGGAGTGCTAATCAGGACACACCGCATTTCCCTCTGACTCCTACAGGTACAACGAGTGGGTTCTCAGAATCTGACATTTGCGTTCTGTCACAACAGAGCAGCCAAGGAAGACAGAAATGTCCCACAAGCTTAGTCCTGTACTGCTGCAATACAGACGGAGGCTGTTTTTCAGTTTATCAACAATCATAAAGTTTTACATCCTACCACTCAATTTCTCTGACGACTAATCCTTTTAAGCCAAGAAAATAAAAAAAGTTATCTCAACAGTCATGTTTCTTCTATGTGCCTGTAGTGGATGCACCCAAGATATTCCCTCATCTGTCTGGTGAAAACCACTCATTTCAGCTATAAAAGTCTACATGTCCATTCCTTACAGCATATGAGCAATTAATCAATAATGAAAGCATTCACCTCACAGGGCCCAACAGGTATATGAGGAGATCTGTACCTGGTTTCTTCAGGCACCATGATGACAGACGGCCAAAAATGTCAAAGAAATCAAGAAGATGCTGTTTCCCAGACTGTGGAATCATTGGTAGCATGGTTATCAACACCAAGACGCCTGTTGTGAGGACAACGACGTCAGTGTCCATCTGCAGGAGAAAAGGTCAAACAGGAAACGTCTGTCAGGCACTGGCACCAGGATCGGCATTGTACAGTACATGAAGAGGCTCTAAACACTGAGAGAATCACAAATCACAAGTTGACTCACGTACTCATTTCCCTATCCCTAAGGATTACTGAAGGGATAACATTCAAACAGACTCAACAGAACACTGAGCCCCAACTCTACTGTAATGAGTCAGTGAGGACCATTTACAACACACCTATGCAAAGGCATCCGGGAGACGAGTTCAAACTTGACTTGGGGACACCCAAGTCCTGCAGCCTTAGGATGCCCTATTGATAGCAGTTGGATGAAAACAAAAGGAGCTGCTTTTCAACAAAACACAGGAGCACTGCTCTGTTTCATTCATTCAACCAAATCCTAAGATACTTACTTTTTGTTAATTAAAAAAAAAAAAAACTGCACATTGACAAGTAACTTACTATTTTTTAAAGAACTACAACAGAAGTATAATTGAAGGAGAAATTCATATAGCACTAACAAGTCAACTTAAAGGCTCACTTCAAAGCAGTATTTAGAGACCAGTAAATTAAAATATATATATATGGAAACCTTTCAGCACGCCTACAGTTTAAATATTAAGTCAAATAAATAACTTCAGGCTAACTGAAGACACTTAACACCCAATGGATACTCAATCAGCTCTGACTAGCTAGCTACAGCAGCTCACCTGACCCATAATTAAATCATGAATGTTTGCCAGGTAGATGAAATTCAGATTTATGAAACAAGATATTAATCAAAAGACTACTATGTAGGTTAAGACATCCATTATTCCTATTAGAATAGGAATCTATGAGTCTGGGAATAAAGTTTTAAATATATTTTGATTTTTACATCAAGCATCAAGCCTTTCATTACGGAAGATATCCAGTAAGAATAATATATTGGTAGGAGAATTGAGAATATATGAGACTATATAATGATTCTCAGCAGAAAGAACTAGCCCTGATTTCATTTTCCTAACAGTCTAACTGAAGACTTATCCATGATTAACAAAACGTACTCTTTTGGAAAAGATAAGTGTTTTGCAATCTGAACTAAATGATGTGCCTCAAAATTAGATTATATTCTCATCAATCCATTTAGATTATATTCTCACCAATCCATTTAGATTATATTCTCATCAATCCATTTAGATTATATTCTCACCAATCCATTAATTAGATTATATTCTCATCAATCCATTTGTTTAAAAAACATTAAGTTGTTAAAACTGTTCCTATTTTTTCTGAATTAAATGCATGTTTTTATAATACCCTGCCAATGTGACTCCTTGGGACCCACCTCTAGGGATAATAAAAGAGTTACCCTTCTTGGCAGACACAAAAATCAATTTGCATGGTGCTGTAGCAGATGAATCCAATGGTACTGCCATCCTGGAACAAATACTATTGGATATTTTCATGTCTCTGTGAGGTACAGGCAGTTAATATTAACCACATTTTCTTATTTTATAGATAGAAAACAAGTCCAGGAACTAAAACAGATTAAACAAATAACCCTGAGTATGGCTGCACGCCACTGTTAAAACTAAAACCATAAAGTTCTATTTAGATTTTGACTCCCTATATAGAAAAATGCACTAAATTTAGTGCAAAAAATAGAATGCAACTTAGTAGAATTTACATCAACAAAGTCTTAATTATAGCTGCAACCAGACCATACTCCTAAATGGTTAACAGAAACTTTAAGCCATTTTTCTATTAGCTAAAAGATAATTTAGAAACAGGGATTCCCAAAAGATAATCCAGGATGTTTTTAAATGAGGGAAGGCTAAACGATGACGAAATCAAGAGGTTTGGAATAATGTAACATTGAACCCATCTGATCGAAATTTTTCCATACTTGCATGGACAAGGTATTCAATAGTCATAGTGATGTATTTGAGAAC
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GAAAGATTCTTTAAAATTTTGACACTAGTTTCTATACCTTCGAGGGTCCAGTTCATGGTCCTTGGATCCAGTCACTAATTCCGGATGAATTCGCACATGCTCCATCATTGGCTAGAAGAGTTGGGTTGACAAATTATAAAGGGCTGAATGTTTGTGGAACATCCAAATGATGGAATATTAGTTGACAATTAAAAGGAATGAAGTACTGATACATGTTATAACACAGATGGAACCTTGAGAACATTATACTGAGTGAAAGAAGCCAGTCACAAAAGACCACATATTATATGATCCCATTTATACAAAATGTCCAGAATAGGCAAATCTATTAAGACAGAAAACAGATTAGTGGCTGCCTAGGGATTGGAGTGGCGAGGAAGAAAACTGAATTTCTTTTCAAAATTTCCCTGTCTGCCGTTAAATACAAAAGGTATAAATGCAGCCTATCTAAACAGTATACTAAGTAGCAAACAAACAAGCAGTTTCAATTTACCTTGACCACTTCTTCAAAAGTCTCCAGGTTTTCTTTCATACTGTAATGAGAACGCAAAAAGGAGACGAAGTTGCAAGGGTACATTCCATAAAGGCGATGAAAGAGTGCGTACACACTGGCATGGAGATGGACGAGATAGACTTCCGCCACGTGGCCTAGAAAAGGAACCCGTTGAGAAGAGCCTCTTAGTTGGAGACAGATTGAGGAGTGCAAAACAGCTATAAACAAGTGGCTGCCAGCAGGACTTTTTATCTATGTATATTCCCACCTCACTCCAAAGACAGGAAGAGTGGTTTTCTAAAATGCAAACAAATCCGAACACACCAGACACCCTTATTTCAAATCCATCAATGGCTCCCTATAAGTTTTGGATAAATTCCAGTCTACTAGTATGATCCATGAAGGCTCTTCCTGATCTAACTTCTGCCCTCCTCTTCAGCCACTGCCCAAAAAGGATCCCAAACATTCTCACAATACTGAACTATCTTTATGATGATAGCTCTCTGTAAAATTTATACTTTTCCATTGCCGAATTCAGTACGAGCTTCTTGAGAAAAAAACTGTCTTACTTATTTCTCGGTGCTTTGCACTGGACCTGATATTTAACAAGCACTCAATATTTACAGAATGAATGTGTGAGACTCTTTTAAATCAGTATGTAGTCTTAGCTATGCAGATTTATAACTACAGAGTGAAAAAAACTATTATCTAGAAATTAGCTTAAAGAACTAAGAGTGAAAGAAATTGAACATCTTAATTTAGCCTTACCTAGACCCTGTGGAAACCCACGGCCACAGTATACATAAAGGTCCTCCAAAATAATGGACAGACCATTCCTTTTTCACAAAGGTCCTACTAAACAAGCAGGCACCACGTGGGCCTATGCTTGTAATTTAATCCTATACAGGAAGGCACGGTGTTCTGTCTCACAGGTCTGACATACTTCACCCTTTTGATAGAAATACCTCACACTGGGATAACCCAAAGATTCCAAATTTCACATGCTTACAGCTTCTGATCCCTTTGATAGAGCTCTGCTACCTGCCGATAGGGGAAAAAAAAAAACCACTGCATTTGAAGCTGGAGTGCTAATCAGGACACACCGCATTTCCCTCTGACTCCTACAGGTACAACGAGTGGGTTCTCAGAATCTGACATTTGCGTTCTGTCACAACAGAGCAGCCAAGGAAGACAGAAATGTCCCACAAGCTTAGTCCTGTACTGCTGCAATACAGACGGAGGCTGTTTTTCAGTTTATCAACAATCATAAAGTTTTACATCCTACCACTCAATTTCTCTGACGACTAATCCTTTTAAGCCAAGAAAATAAAAAAAGTTATCTCAACAGTCATGTTTCTTCTATGTGCCTGTAGTGGATGCACCCAAGATATTCCCTCATCTGTCTGGTGAAAACCACTCATTTCAGCTATAAAAGTCTACATGTCCATTCCTTACAGCATATGAGCAATTAATCAATAATGAAAGCATTCACCTCACAGGGCCCAACAGGTATATGAGGAGATCTGTACCTGGTTTCTTCAGGCACCATGATGACGGACGGCCAAAAATGTCAAAGAAATCAAGAAGATGCTGTTTCCCAGACTGTGGAATCATTGGTAGCATGGTTATCAACACCAAGACGCCTGTTGTGAGGACAACGACGTCAGTGTCCATCTGCAGGAGAAAAGGTCAAACAGGAAACGTCTGTCAGGCACTGGCACCAGGATCGGCATTGTACAGTACATGAAGAGGCTCTAAACACTGAGAGAATCACAAATCACAAGTTGACTCACGTACTCATTTCCCTATCCCTAAGGATTACTGAAGGGATAACATTCAAACAGACTCAACAGAACACTGAGCCCCAACTCTACTGTAATGAGTCAGTGAGGACCATTTACAACACACCTATGCAAAGGCATCCGGGAGACGAGTTCAAACTTGACTTGGGGACACCCAAGTCCTGCAGCCTTAGGATGCCCTATTGATAGCAGTTGGATGAAAACAAAAGGAGCTGCTTTTCAACAAAACACAGGAGCACTGCTCTGTTTCATTCATTCAACCAAATCCTAAGATACTTACTTTTTGTTAATTAAAAAAAAAAAAAACTGCACATTGACAAGTAACTTACTATTTTTTAAAGAACTACAACAGAAGTATAATTGAAGGAGAAATTCATATAGCACTAACAAGTCAACTTAAAGGCTCACTTCAAAGCAGTATTTAGAGACCAGTAAATTAAAATATATATATATGGAAACCTTTCAGCACGCCTACAGTTTAAATATTAAGTCAAATAAATAACTTCAGGCTAACTGAAGACACTTAACACCCAATGGATACTCAATCAGCTCTGACTAGCTAGCTACAGCAGCTCACCTGACCCATAATTAAATCATGAATGTTTGCCAGGTAGATGAAATTCAGATTTATGAAACAAGATATTAATCAAAAGACTACTATGTAGGTTAAGACATCCATTATTCCTATTAGAATAGGAATCTATGAGTCTGGGAATAAAGTTTTAAATATATTTTGATTTTTACATCAAGCATCAAGCCTTTCATTACGGAAGATATCCAGTAAGAATAATATATTGGTAGGAGAATTGAGAATATATGAGACTATATAATGATTCTCAGCAGAAAGAACTAGCCCTGATTTCATTTTCCTAACAGTCTAACTGAAGACTTATCCATGATTAACAAAACGTACTCTTTTGGAAAAGATAAGTGTTTTGCAATCTGAACTAAATGATGTGCCTCAAAATTAGATTATATTCTCATCAATCCATTTAGATTATATTCTCACCAATCCATTTAGATTATATTCTCATCAATCCATTTAGATTATATTCTCACCAATCCATTAATTAGATTATATTCTCATCAATCCATTTGTTTAAAAAACATTAAGTTGTTAAAACTGTTCCTATTTTTTCTGAATTAAATGCATGTTTTTATAATACCCTGCCAATGTGACTCCTTGGGACCCACCTCTAGGGATAATAAAAGAGTTACCCTTCTTGGCAGACACAAAAATCAATTTGCATGGTGCTGTAGCAGATGAATCCAATGGTACTGCCATCCTGGAACAAATACTATTGGATATTTTCATGTCTCTGTGAGGTACAGGCAGTTAATATTAACCACATTTTCTTATTTTATAGATAGAAAACAAGTCCAGGAACTAAAACAGATTAAACAAATAACCCTGAGTATGGCTGCACGCCACTGTTAAAACTAAAACCATAAAGTTCTATTTAGATTTTGACTCCCTATATAGAAAAATGCACTAAATTTAGTGCAAAAAATAGAATGCAACTTAGTAGAATTTACATCAACAAAGTCTTAATTATAGCTGCAACCAGACCATACTCCTAAATGGTTAACAGAAACTTTAAGCCATTTTTCTATTAGCTAAAAGATAATTTAGAAACAGGGATTCCCAAAAGATAATCCAGGATGTTTTTAAATGAGGGAAGGCTAAACGATGACGAAATCAAGAGGTTTGGAATAATGTAACATTGAACCCATCTGATCGAAATTTTTCCATACTTGCATGGACAAGGTATTCAATAGTCATAGTGATGTATTTGAGAAC
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Task1_train_13412
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This alteration occurs within gene TSC1 (TSC complex subunit 1) located on Chromosome 9. Is it associated with a disease or is it a benign variant?
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Pathogenic; Hereditary cancer-predisposing syndrome
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CCAGGATCGGCATTGTACAGTACATGAAGAGGCTCTAAACACTGAGAGAATCACAAATCACAAGTTGACTCACGTACTCATTTCCCTATCCCTAAGGATTACTGAAGGGATAACATTCAAACAGACTCAACAGAACACTGAGCCCCAACTCTACTGTAATGAGTCAGTGAGGACCATTTACAACACACCTATGCAAAGGCATCCGGGAGACGAGTTCAAACTTGACTTGGGGACACCCAAGTCCTGCAGCCTTAGGATGCCCTATTGATAGCAGTTGGATGAAAACAAAAGGAGCTGCTTTTCAACAAAACACAGGAGCACTGCTCTGTTTCATTCATTCAACCAAATCCTAAGATACTTACTTTTTGTTAATTAAAAAAAAAAAAAACTGCACATTGACAAGTAACTTACTATTTTTTAAAGAACTACAACAGAAGTATAATTGAAGGAGAAATTCATATAGCACTAACAAGTCAACTTAAAGGCTCACTTCAAAGCAGTATTTAGAGACCAGTAAATTAAAATATATATATATGGAAACCTTTCAGCACGCCTACAGTTTAAATATTAAGTCAAATAAATAACTTCAGGCTAACTGAAGACACTTAACACCCAATGGATACTCAATCAGCTCTGACTAGCTAGCTACAGCAGCTCACCTGACCCATAATTAAATCATGAATGTTTGCCAGGTAGATGAAATTCAGATTTATGAAACAAGATATTAATCAAAAGACTACTATGTAGGTTAAGACATCCATTATTCCTATTAGAATAGGAATCTATGAGTCTGGGAATAAAGTTTTAAATATATTTTGATTTTTACATCAAGCATCAAGCCTTTCATTACGGAAGATATCCAGTAAGAATAATATATTGGTAGGAGAATTGAGAATATATGAGACTATATAATGATTCTCAGCAGAAAGAACTAGCCCTGATTTCATTTTCCTAACAGTCTAACTGAAGACTTATCCATGATTAACAAAACGTACTCTTTTGGAAAAGATAAGTGTTTTGCAATCTGAACTAAATGATGTGCCTCAAAATTAGATTATATTCTCATCAATCCATTTAGATTATATTCTCACCAATCCATTTAGATTATATTCTCATCAATCCATTTAGATTATATTCTCACCAATCCATTAATTAGATTATATTCTCATCAATCCATTTGTTTAAAAAACATTAAGTTGTTAAAACTGTTCCTATTTTTTCTGAATTAAATGCATGTTTTTATAATACCCTGCCAATGTGACTCCTTGGGACCCACCTCTAGGGATAATAAAAGAGTTACCCTTCTTGGCAGACACAAAAATCAATTTGCATGGTGCTGTAGCAGATGAATCCAATGGTACTGCCATCCTGGAACAAATACTATTGGATATTTTCATGTCTCTGTGAGGTACAGGCAGTTAATATTAACCACATTTTCTTATTTTATAGATAGAAAACAAGTCCAGGAACTAAAACAGATTAAACAAATAACCCTGAGTATGGCTGCACGCCACTGTTAAAACTAAAACCATAAAGTTCTATTTAGATTTTGACTCCCTATATAGAAAAATGCACTAAATTTAGTGCAAAAAATAGAATGCAACTTAGTAGAATTTACATCAACAAAGTCTTAATTATAGCTGCAACCAGACCATACTCCTAAATGGTTAACAGAAACTTTAAGCCATTTTTCTATTAGCTAAAAGATAATTTAGAAACAGGGATTCCCAAAAGATAATCCAGGATGTTTTTAAATGAGGGAAGGCTAAACGATGACGAAATCAAGAGGTTTGGAATAATGTAACATTGAACCCATCTGATCGAAATTTTTCCATACTTGCATGGACAAGGTATTCAATAGTCATAGTGATGTATTTGAGAACTTACTAAGTACCAACTCTGGACAACATTCTATTTGAGAAAAGCCAAATGCCTAGAAGGTTTTAAACTCTAAAAGTTAAAATCTAGCTTCCTTGCTTTAAGTTGCCTAAAATTTCAGAAACTATACTCATAAAACCATTTCATTCAAATCCTTACAAACATCCTACCTTGAGACATTTTAGTAAAGAAGGCAAAAGAGGTGCTTGAGAGAGCTTATGCTTCCAAGATGGCTGCAGTCTTATGACATGACCCAGTAACGAGAGGATGGATAAACGAGTGGCGGCTTTGCCCACATATTCGTTAATCCTGTCCAAGAGGTGCTGAAAATGTAAAAGAACAAGGGCAGTCCTCACATGAATGTATGAAGTTAACACAAATAAAGACAGCAATGATGTGCTCCAATCTCTCAAGTCTTGTCTCTAATGTAAAGCAAGGGTCATGCAGATAAAAGGTCAAATTCAAGATTTTAAAAACCACGTTAGCAAACAAAACACTGCTGCATTTGGCCTGACAAAAGGCAGCCAGTTTGCAGCTCATGAAAAAGGACCCTACAATACACGCATGCAGAAAGGGGGAGACTTGTTCACAGCCCCTCAATAACCAACAGTCCCAAACTGTGATAGGTTACTGAAGCCATGAGGGGATCCTGCTGGAAGCAGCCACTTATTGCTAGAGCAACCCAGCCTACATGGTTTGGCCTCAAGTATCAATTAGGTAGTAGAAGTTACATTTCAGACCAGAGTAAACAAAAAAACAAGACGGGCCAGGCGCAGTGGCTCATGCCGGCAATCCCTGCACTTTGGGAGGCTGAGGCAGGAGGATAGCTTGAGGCCAGGAGTTCAAGGTTACAGTGAGCTATGATTGTGCCACCACGCTCCAGTCTAGGGAACACAATGAGACCTCACCTCTTTAGAAAACAAAACAAAACAAGATGTACTGTAAAAGGCATGCAATACAAGGTCTTCAAATCCTGGGGAAGTTGCTCTCATATATACACTTAAGACTTACCAAAGTCTGCAATAACAATGCTTTATTAGCTACTTACTAAAAACAAAAGGAAAACATGAAGGAGCCCTCCAAGTGCCGGGTGCTAGGAAACAAGACTCATTAATTTGTCATGTTAGTCCTTTGTACTTGAAGCTTTTCCATATCGATAAAAGTCTAAAAATTCTATTCAAAGTATGGGTTGAAAGATGGGTACCTATGGGCCAAATCATCACTATACAATTATAGTACTGGAAATGTAAGATTTCTTTAAACAAGATCTTTTTTTTTTTTGAGACAGTTTCACTCTTGTTGCCCTGGAGTGCAATGGTGCAATCTCAGGTCACTGCAACCTCCGCCTCCCAGGTTCAAGCGATTCTCCTGCCTCAGCTTCCTGAGTAGCTGAGATTATAGGTGTCCACCACCACGCCCAGCTAATTTTTTGTATTTTTTAGTAGAGACGGGGTTTCACTGTGTTGGCCAGGCTGGTCTCAAACTCGTGACCTCAGGCAATCCACCCGCCTCGGCCTCCTAAGGGGATTACAGGCGTGAGCCACCACACCCGGCCCAAACAAGATCTTTAACAGTCTCTGAAATATGTTTTATTTTGTAAACTTTTCAAGAATCATGGGTCCTACAAAGTAATTTTTATATGTAGTTATAAACTGGGAACAATGTCATCAGTGGCGCACAGAAATCAAAAGAATAAGCTCAGGACAAGTTGCACAGTGGCCGTGCACAGAAGCTGTTGTACTCATGAAGAACATATGAAATGCCTATGATATTTCAGCCATTACCTTGTCATGTGGCTCTTGCAAGGTGGTCAGGATGTGCAATGCCGGCTGAGAGCTGGTTTCCAGGTAATAATCCACCAAGGTGTTTACAAGCATAGGGCCACGGTCTAAATCAAGAAAAGGGCAATGGATGATACTTATTCCCCTTAACATCCTAAATTTACCTTACACAGCTTCCTGTCACAAAATCCAGAAAATGTTTCTTTATATGCTATTCTAAGTTTTGTGCAGCATTACAGTTCTGCCTTCTTAATTTAATAATAAGATATTCCAAGCTTATTTGCCTAAATATGCATAAAAACATATGAAGTCATTTTTATTGCCTTTTTTTTTTTTTTTTTTTTGAGATGGAGTCTCACTCTGTTGCCAGGCTGGAGTGCAGTGGCACAATCTCAGCTCACTGCAACCTCTGCCTCCTGGGTTCAAGCAATTCTCGT
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CCAGGATCGGCATTGTACAGTACATGAAGAGGCTCTAAACACTGAGAGAATCACAAATCACAAGTTGACTCACGTACTCATTTCCCTATCCCTAAGGATTACTGAAGGGATAACATTCAAACAGACTCAACAGAACACTGAGCCCCAACTCTACTGTAATGAGTCAGTGAGGACCATTTACAACACACCTATGCAAAGGCATCCGGGAGACGAGTTCAAACTTGACTTGGGGACACCCAAGTCCTGCAGCCTTAGGATGCCCTATTGATAGCAGTTGGATGAAAACAAAAGGAGCTGCTTTTCAACAAAACACAGGAGCACTGCTCTGTTTCATTCATTCAACCAAATCCTAAGATACTTACTTTTTGTTAATTAAAAAAAAAAAAAACTGCACATTGACAAGTAACTTACTATTTTTTAAAGAACTACAACAGAAGTATAATTGAAGGAGAAATTCATATAGCACTAACAAGTCAACTTAAAGGCTCACTTCAAAGCAGTATTTAGAGACCAGTAAATTAAAATATATATATATGGAAACCTTTCAGCACGCCTACAGTTTAAATATTAAGTCAAATAAATAACTTCAGGCTAACTGAAGACACTTAACACCCAATGGATACTCAATCAGCTCTGACTAGCTAGCTACAGCAGCTCACCTGACCCATAATTAAATCATGAATGTTTGCCAGGTAGATGAAATTCAGATTTATGAAACAAGATATTAATCAAAAGACTACTATGTAGGTTAAGACATCCATTATTCCTATTAGAATAGGAATCTATGAGTCTGGGAATAAAGTTTTAAATATATTTTGATTTTTACATCAAGCATCAAGCCTTTCATTACGGAAGATATCCAGTAAGAATAATATATTGGTAGGAGAATTGAGAATATATGAGACTATATAATGATTCTCAGCAGAAAGAACTAGCCCTGATTTCATTTTCCTAACAGTCTAACTGAAGACTTATCCATGATTAACAAAACGTACTCTTTTGGAAAAGATAAGTGTTTTGCAATCTGAACTAAATGATGTGCCTCAAAATTAGATTATATTCTCATCAATCCATTTAGATTATATTCTCACCAATCCATTTAGATTATATTCTCATCAATCCATTTAGATTATATTCTCACCAATCCATTAATTAGATTATATTCTCATCAATCCATTTGTTTAAAAAACATTAAGTTGTTAAAACTGTTCCTATTTTTTCTGAATTAAATGCATGTTTTTATAATACCCTGCCAATGTGACTCCTTGGGACCCACCTCTAGGGATAATAAAAGAGTTACCCTTCTTGGCAGACACAAAAATCAATTTGCATGGTGCTGTAGCAGATGAATCCAATGGTACTGCCATCCTGGAACAAATACTATTGGATATTTTCATGTCTCTGTGAGGTACAGGCAGTTAATATTAACCACATTTTCTTATTTTATAGATAGAAAACAAGTCCAGGAACTAAAACAGATTAAACAAATAACCCTGAGTATGGCTGCACGCCACTGTTAAAACTAAAACCATAAAGTTCTATTTAGATTTTGACTCCCTATATAGAAAAATGCACTAAATTTAGTGCAAAAAATAGAATGCAACTTAGTAGAATTTACATCAACAAAGTCTTAATTATAGCTGCAACCAGACCATACTCCTAAATGGTTAACAGAAACTTTAAGCCATTTTTCTATTAGCTAAAAGATAATTTAGAAACAGGGATTCCCAAAAGATAATCCAGGATGTTTTTAAATGAGGGAAGGCTAAACGATGACGAAATCAAGAGGTTTGGAATAATGTAACATTGAACCCATCTGATCGAAATTTTTCCATACTTGCATGGACAAGGTATTCAATAGTCATAGTGATGTATTTGAGAACTTACTAAGTACCAACTCTGGACAACATTCTATTTGAGAAAAGCCAAATGCCTAGAAGGTTTTAAACTCTAAAAGTTAAAATCTAGCTTCCTTGCTTTAAGTTGCCTAAAATTTCAGAAACTATACTCATAAAACCATTTCATTCAAATCCTTACAAACATCCTACGTTGAGACATTTTAGTAAAGAAGGCAAAAGAGGTGCTTGAGAGAGCTTATGCTTCCAAGATGGCTGCAGTCTTATGACATGACCCAGTAACGAGAGGATGGATAAACGAGTGGCGGCTTTGCCCACATATTCGTTAATCCTGTCCAAGAGGTGCTGAAAATGTAAAAGAACAAGGGCAGTCCTCACATGAATGTATGAAGTTAACACAAATAAAGACAGCAATGATGTGCTCCAATCTCTCAAGTCTTGTCTCTAATGTAAAGCAAGGGTCATGCAGATAAAAGGTCAAATTCAAGATTTTAAAAACCACGTTAGCAAACAAAACACTGCTGCATTTGGCCTGACAAAAGGCAGCCAGTTTGCAGCTCATGAAAAAGGACCCTACAATACACGCATGCAGAAAGGGGGAGACTTGTTCACAGCCCCTCAATAACCAACAGTCCCAAACTGTGATAGGTTACTGAAGCCATGAGGGGATCCTGCTGGAAGCAGCCACTTATTGCTAGAGCAACCCAGCCTACATGGTTTGGCCTCAAGTATCAATTAGGTAGTAGAAGTTACATTTCAGACCAGAGTAAACAAAAAAACAAGACGGGCCAGGCGCAGTGGCTCATGCCGGCAATCCCTGCACTTTGGGAGGCTGAGGCAGGAGGATAGCTTGAGGCCAGGAGTTCAAGGTTACAGTGAGCTATGATTGTGCCACCACGCTCCAGTCTAGGGAACACAATGAGACCTCACCTCTTTAGAAAACAAAACAAAACAAGATGTACTGTAAAAGGCATGCAATACAAGGTCTTCAAATCCTGGGGAAGTTGCTCTCATATATACACTTAAGACTTACCAAAGTCTGCAATAACAATGCTTTATTAGCTACTTACTAAAAACAAAAGGAAAACATGAAGGAGCCCTCCAAGTGCCGGGTGCTAGGAAACAAGACTCATTAATTTGTCATGTTAGTCCTTTGTACTTGAAGCTTTTCCATATCGATAAAAGTCTAAAAATTCTATTCAAAGTATGGGTTGAAAGATGGGTACCTATGGGCCAAATCATCACTATACAATTATAGTACTGGAAATGTAAGATTTCTTTAAACAAGATCTTTTTTTTTTTTGAGACAGTTTCACTCTTGTTGCCCTGGAGTGCAATGGTGCAATCTCAGGTCACTGCAACCTCCGCCTCCCAGGTTCAAGCGATTCTCCTGCCTCAGCTTCCTGAGTAGCTGAGATTATAGGTGTCCACCACCACGCCCAGCTAATTTTTTGTATTTTTTAGTAGAGACGGGGTTTCACTGTGTTGGCCAGGCTGGTCTCAAACTCGTGACCTCAGGCAATCCACCCGCCTCGGCCTCCTAAGGGGATTACAGGCGTGAGCCACCACACCCGGCCCAAACAAGATCTTTAACAGTCTCTGAAATATGTTTTATTTTGTAAACTTTTCAAGAATCATGGGTCCTACAAAGTAATTTTTATATGTAGTTATAAACTGGGAACAATGTCATCAGTGGCGCACAGAAATCAAAAGAATAAGCTCAGGACAAGTTGCACAGTGGCCGTGCACAGAAGCTGTTGTACTCATGAAGAACATATGAAATGCCTATGATATTTCAGCCATTACCTTGTCATGTGGCTCTTGCAAGGTGGTCAGGATGTGCAATGCCGGCTGAGAGCTGGTTTCCAGGTAATAATCCACCAAGGTGTTTACAAGCATAGGGCCACGGTCTAAATCAAGAAAAGGGCAATGGATGATACTTATTCCCCTTAACATCCTAAATTTACCTTACACAGCTTCCTGTCACAAAATCCAGAAAATGTTTCTTTATATGCTATTCTAAGTTTTGTGCAGCATTACAGTTCTGCCTTCTTAATTTAATAATAAGATATTCCAAGCTTATTTGCCTAAATATGCATAAAAACATATGAAGTCATTTTTATTGCCTTTTTTTTTTTTTTTTTTTTGAGATGGAGTCTCACTCTGTTGCCAGGCTGGAGTGCAGTGGCACAATCTCAGCTCACTGCAACCTCTGCCTCCTGGGTTCAAGCAATTCTCGT
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Task1_train_13413
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A mutation in TSC1 (TSC complex subunit 1), located on Chromosome 9, is being studied. Determine whether it’s pathogenic or benign, and specify the linked disease.
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Pathogenic; Tuberous sclerosis 1
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CCAGGATCGGCATTGTACAGTACATGAAGAGGCTCTAAACACTGAGAGAATCACAAATCACAAGTTGACTCACGTACTCATTTCCCTATCCCTAAGGATTACTGAAGGGATAACATTCAAACAGACTCAACAGAACACTGAGCCCCAACTCTACTGTAATGAGTCAGTGAGGACCATTTACAACACACCTATGCAAAGGCATCCGGGAGACGAGTTCAAACTTGACTTGGGGACACCCAAGTCCTGCAGCCTTAGGATGCCCTATTGATAGCAGTTGGATGAAAACAAAAGGAGCTGCTTTTCAACAAAACACAGGAGCACTGCTCTGTTTCATTCATTCAACCAAATCCTAAGATACTTACTTTTTGTTAATTAAAAAAAAAAAAAACTGCACATTGACAAGTAACTTACTATTTTTTAAAGAACTACAACAGAAGTATAATTGAAGGAGAAATTCATATAGCACTAACAAGTCAACTTAAAGGCTCACTTCAAAGCAGTATTTAGAGACCAGTAAATTAAAATATATATATATGGAAACCTTTCAGCACGCCTACAGTTTAAATATTAAGTCAAATAAATAACTTCAGGCTAACTGAAGACACTTAACACCCAATGGATACTCAATCAGCTCTGACTAGCTAGCTACAGCAGCTCACCTGACCCATAATTAAATCATGAATGTTTGCCAGGTAGATGAAATTCAGATTTATGAAACAAGATATTAATCAAAAGACTACTATGTAGGTTAAGACATCCATTATTCCTATTAGAATAGGAATCTATGAGTCTGGGAATAAAGTTTTAAATATATTTTGATTTTTACATCAAGCATCAAGCCTTTCATTACGGAAGATATCCAGTAAGAATAATATATTGGTAGGAGAATTGAGAATATATGAGACTATATAATGATTCTCAGCAGAAAGAACTAGCCCTGATTTCATTTTCCTAACAGTCTAACTGAAGACTTATCCATGATTAACAAAACGTACTCTTTTGGAAAAGATAAGTGTTTTGCAATCTGAACTAAATGATGTGCCTCAAAATTAGATTATATTCTCATCAATCCATTTAGATTATATTCTCACCAATCCATTTAGATTATATTCTCATCAATCCATTTAGATTATATTCTCACCAATCCATTAATTAGATTATATTCTCATCAATCCATTTGTTTAAAAAACATTAAGTTGTTAAAACTGTTCCTATTTTTTCTGAATTAAATGCATGTTTTTATAATACCCTGCCAATGTGACTCCTTGGGACCCACCTCTAGGGATAATAAAAGAGTTACCCTTCTTGGCAGACACAAAAATCAATTTGCATGGTGCTGTAGCAGATGAATCCAATGGTACTGCCATCCTGGAACAAATACTATTGGATATTTTCATGTCTCTGTGAGGTACAGGCAGTTAATATTAACCACATTTTCTTATTTTATAGATAGAAAACAAGTCCAGGAACTAAAACAGATTAAACAAATAACCCTGAGTATGGCTGCACGCCACTGTTAAAACTAAAACCATAAAGTTCTATTTAGATTTTGACTCCCTATATAGAAAAATGCACTAAATTTAGTGCAAAAAATAGAATGCAACTTAGTAGAATTTACATCAACAAAGTCTTAATTATAGCTGCAACCAGACCATACTCCTAAATGGTTAACAGAAACTTTAAGCCATTTTTCTATTAGCTAAAAGATAATTTAGAAACAGGGATTCCCAAAAGATAATCCAGGATGTTTTTAAATGAGGGAAGGCTAAACGATGACGAAATCAAGAGGTTTGGAATAATGTAACATTGAACCCATCTGATCGAAATTTTTCCATACTTGCATGGACAAGGTATTCAATAGTCATAGTGATGTATTTGAGAACTTACTAAGTACCAACTCTGGACAACATTCTATTTGAGAAAAGCCAAATGCCTAGAAGGTTTTAAACTCTAAAAGTTAAAATCTAGCTTCCTTGCTTTAAGTTGCCTAAAATTTCAGAAACTATACTCATAAAACCATTTCATTCAAATCCTTACAAACATCCTACCTTGAGACATTTTAGTAAAGAAGGCAAAAGAGGTGCTTGAGAGAGCTTATGCTTCCAAGATGGCTGCAGTCTTATGACATGACCCAGTAACGAGAGGATGGATAAACGAGTGGCGGCTTTGCCCACATATTCGTTAATCCTGTCCAAGAGGTGCTGAAAATGTAAAAGAACAAGGGCAGTCCTCACATGAATGTATGAAGTTAACACAAATAAAGACAGCAATGATGTGCTCCAATCTCTCAAGTCTTGTCTCTAATGTAAAGCAAGGGTCATGCAGATAAAAGGTCAAATTCAAGATTTTAAAAACCACGTTAGCAAACAAAACACTGCTGCATTTGGCCTGACAAAAGGCAGCCAGTTTGCAGCTCATGAAAAAGGACCCTACAATACACGCATGCAGAAAGGGGGAGACTTGTTCACAGCCCCTCAATAACCAACAGTCCCAAACTGTGATAGGTTACTGAAGCCATGAGGGGATCCTGCTGGAAGCAGCCACTTATTGCTAGAGCAACCCAGCCTACATGGTTTGGCCTCAAGTATCAATTAGGTAGTAGAAGTTACATTTCAGACCAGAGTAAACAAAAAAACAAGACGGGCCAGGCGCAGTGGCTCATGCCGGCAATCCCTGCACTTTGGGAGGCTGAGGCAGGAGGATAGCTTGAGGCCAGGAGTTCAAGGTTACAGTGAGCTATGATTGTGCCACCACGCTCCAGTCTAGGGAACACAATGAGACCTCACCTCTTTAGAAAACAAAACAAAACAAGATGTACTGTAAAAGGCATGCAATACAAGGTCTTCAAATCCTGGGGAAGTTGCTCTCATATATACACTTAAGACTTACCAAAGTCTGCAATAACAATGCTTTATTAGCTACTTACTAAAAACAAAAGGAAAACATGAAGGAGCCCTCCAAGTGCCGGGTGCTAGGAAACAAGACTCATTAATTTGTCATGTTAGTCCTTTGTACTTGAAGCTTTTCCATATCGATAAAAGTCTAAAAATTCTATTCAAAGTATGGGTTGAAAGATGGGTACCTATGGGCCAAATCATCACTATACAATTATAGTACTGGAAATGTAAGATTTCTTTAAACAAGATCTTTTTTTTTTTTGAGACAGTTTCACTCTTGTTGCCCTGGAGTGCAATGGTGCAATCTCAGGTCACTGCAACCTCCGCCTCCCAGGTTCAAGCGATTCTCCTGCCTCAGCTTCCTGAGTAGCTGAGATTATAGGTGTCCACCACCACGCCCAGCTAATTTTTTGTATTTTTTAGTAGAGACGGGGTTTCACTGTGTTGGCCAGGCTGGTCTCAAACTCGTGACCTCAGGCAATCCACCCGCCTCGGCCTCCTAAGGGGATTACAGGCGTGAGCCACCACACCCGGCCCAAACAAGATCTTTAACAGTCTCTGAAATATGTTTTATTTTGTAAACTTTTCAAGAATCATGGGTCCTACAAAGTAATTTTTATATGTAGTTATAAACTGGGAACAATGTCATCAGTGGCGCACAGAAATCAAAAGAATAAGCTCAGGACAAGTTGCACAGTGGCCGTGCACAGAAGCTGTTGTACTCATGAAGAACATATGAAATGCCTATGATATTTCAGCCATTACCTTGTCATGTGGCTCTTGCAAGGTGGTCAGGATGTGCAATGCCGGCTGAGAGCTGGTTTCCAGGTAATAATCCACCAAGGTGTTTACAAGCATAGGGCCACGGTCTAAATCAAGAAAAGGGCAATGGATGATACTTATTCCCCTTAACATCCTAAATTTACCTTACACAGCTTCCTGTCACAAAATCCAGAAAATGTTTCTTTATATGCTATTCTAAGTTTTGTGCAGCATTACAGTTCTGCCTTCTTAATTTAATAATAAGATATTCCAAGCTTATTTGCCTAAATATGCATAAAAACATATGAAGTCATTTTTATTGCCTTTTTTTTTTTTTTTTTTTTGAGATGGAGTCTCACTCTGTTGCCAGGCTGGAGTGCAGTGGCACAATCTCAGCTCACTGCAACCTCTGCCTCCTGGGTTCAAGCAATTCTCGT
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CCAGGATCGGCATTGTACAGTACATGAAGAGGCTCTAAACACTGAGAGAATCACAAATCACAAGTTGACTCACGTACTCATTTCCCTATCCCTAAGGATTACTGAAGGGATAACATTCAAACAGACTCAACAGAACACTGAGCCCCAACTCTACTGTAATGAGTCAGTGAGGACCATTTACAACACACCTATGCAAAGGCATCCGGGAGACGAGTTCAAACTTGACTTGGGGACACCCAAGTCCTGCAGCCTTAGGATGCCCTATTGATAGCAGTTGGATGAAAACAAAAGGAGCTGCTTTTCAACAAAACACAGGAGCACTGCTCTGTTTCATTCATTCAACCAAATCCTAAGATACTTACTTTTTGTTAATTAAAAAAAAAAAAAACTGCACATTGACAAGTAACTTACTATTTTTTAAAGAACTACAACAGAAGTATAATTGAAGGAGAAATTCATATAGCACTAACAAGTCAACTTAAAGGCTCACTTCAAAGCAGTATTTAGAGACCAGTAAATTAAAATATATATATATGGAAACCTTTCAGCACGCCTACAGTTTAAATATTAAGTCAAATAAATAACTTCAGGCTAACTGAAGACACTTAACACCCAATGGATACTCAATCAGCTCTGACTAGCTAGCTACAGCAGCTCACCTGACCCATAATTAAATCATGAATGTTTGCCAGGTAGATGAAATTCAGATTTATGAAACAAGATATTAATCAAAAGACTACTATGTAGGTTAAGACATCCATTATTCCTATTAGAATAGGAATCTATGAGTCTGGGAATAAAGTTTTAAATATATTTTGATTTTTACATCAAGCATCAAGCCTTTCATTACGGAAGATATCCAGTAAGAATAATATATTGGTAGGAGAATTGAGAATATATGAGACTATATAATGATTCTCAGCAGAAAGAACTAGCCCTGATTTCATTTTCCTAACAGTCTAACTGAAGACTTATCCATGATTAACAAAACGTACTCTTTTGGAAAAGATAAGTGTTTTGCAATCTGAACTAAATGATGTGCCTCAAAATTAGATTATATTCTCATCAATCCATTTAGATTATATTCTCACCAATCCATTTAGATTATATTCTCATCAATCCATTTAGATTATATTCTCACCAATCCATTAATTAGATTATATTCTCATCAATCCATTTGTTTAAAAAACATTAAGTTGTTAAAACTGTTCCTATTTTTTCTGAATTAAATGCATGTTTTTATAATACCCTGCCAATGTGACTCCTTGGGACCCACCTCTAGGGATAATAAAAGAGTTACCCTTCTTGGCAGACACAAAAATCAATTTGCATGGTGCTGTAGCAGATGAATCCAATGGTACTGCCATCCTGGAACAAATACTATTGGATATTTTCATGTCTCTGTGAGGTACAGGCAGTTAATATTAACCACATTTTCTTATTTTATAGATAGAAAACAAGTCCAGGAACTAAAACAGATTAAACAAATAACCCTGAGTATGGCTGCACGCCACTGTTAAAACTAAAACCATAAAGTTCTATTTAGATTTTGACTCCCTATATAGAAAAATGCACTAAATTTAGTGCAAAAAATAGAATGCAACTTAGTAGAATTTACATCAACAAAGTCTTAATTATAGCTGCAACCAGACCATACTCCTAAATGGTTAACAGAAACTTTAAGCCATTTTTCTATTAGCTAAAAGATAATTTAGAAACAGGGATTCCCAAAAGATAATCCAGGATGTTTTTAAATGAGGGAAGGCTAAACGATGACGAAATCAAGAGGTTTGGAATAATGTAACATTGAACCCATCTGATCGAAATTTTTCCATACTTGCATGGACAAGGTATTCAATAGTCATAGTGATGTATTTGAGAACTTACTAAGTACCAACTCTGGACAACATTCTATTTGAGAAAAGCCAAATGCCTAGAAGGTTTTAAACTCTAAAAGTTAAAATCTAGCTTCCTTGCTTTAAGTTGCCTAAAATTTCAGAAACTATACTCATAAAACCATTTCATTCAAATCCTTACAAACATCCTACGTTGAGACATTTTAGTAAAGAAGGCAAAAGAGGTGCTTGAGAGAGCTTATGCTTCCAAGATGGCTGCAGTCTTATGACATGACCCAGTAACGAGAGGATGGATAAACGAGTGGCGGCTTTGCCCACATATTCGTTAATCCTGTCCAAGAGGTGCTGAAAATGTAAAAGAACAAGGGCAGTCCTCACATGAATGTATGAAGTTAACACAAATAAAGACAGCAATGATGTGCTCCAATCTCTCAAGTCTTGTCTCTAATGTAAAGCAAGGGTCATGCAGATAAAAGGTCAAATTCAAGATTTTAAAAACCACGTTAGCAAACAAAACACTGCTGCATTTGGCCTGACAAAAGGCAGCCAGTTTGCAGCTCATGAAAAAGGACCCTACAATACACGCATGCAGAAAGGGGGAGACTTGTTCACAGCCCCTCAATAACCAACAGTCCCAAACTGTGATAGGTTACTGAAGCCATGAGGGGATCCTGCTGGAAGCAGCCACTTATTGCTAGAGCAACCCAGCCTACATGGTTTGGCCTCAAGTATCAATTAGGTAGTAGAAGTTACATTTCAGACCAGAGTAAACAAAAAAACAAGACGGGCCAGGCGCAGTGGCTCATGCCGGCAATCCCTGCACTTTGGGAGGCTGAGGCAGGAGGATAGCTTGAGGCCAGGAGTTCAAGGTTACAGTGAGCTATGATTGTGCCACCACGCTCCAGTCTAGGGAACACAATGAGACCTCACCTCTTTAGAAAACAAAACAAAACAAGATGTACTGTAAAAGGCATGCAATACAAGGTCTTCAAATCCTGGGGAAGTTGCTCTCATATATACACTTAAGACTTACCAAAGTCTGCAATAACAATGCTTTATTAGCTACTTACTAAAAACAAAAGGAAAACATGAAGGAGCCCTCCAAGTGCCGGGTGCTAGGAAACAAGACTCATTAATTTGTCATGTTAGTCCTTTGTACTTGAAGCTTTTCCATATCGATAAAAGTCTAAAAATTCTATTCAAAGTATGGGTTGAAAGATGGGTACCTATGGGCCAAATCATCACTATACAATTATAGTACTGGAAATGTAAGATTTCTTTAAACAAGATCTTTTTTTTTTTTGAGACAGTTTCACTCTTGTTGCCCTGGAGTGCAATGGTGCAATCTCAGGTCACTGCAACCTCCGCCTCCCAGGTTCAAGCGATTCTCCTGCCTCAGCTTCCTGAGTAGCTGAGATTATAGGTGTCCACCACCACGCCCAGCTAATTTTTTGTATTTTTTAGTAGAGACGGGGTTTCACTGTGTTGGCCAGGCTGGTCTCAAACTCGTGACCTCAGGCAATCCACCCGCCTCGGCCTCCTAAGGGGATTACAGGCGTGAGCCACCACACCCGGCCCAAACAAGATCTTTAACAGTCTCTGAAATATGTTTTATTTTGTAAACTTTTCAAGAATCATGGGTCCTACAAAGTAATTTTTATATGTAGTTATAAACTGGGAACAATGTCATCAGTGGCGCACAGAAATCAAAAGAATAAGCTCAGGACAAGTTGCACAGTGGCCGTGCACAGAAGCTGTTGTACTCATGAAGAACATATGAAATGCCTATGATATTTCAGCCATTACCTTGTCATGTGGCTCTTGCAAGGTGGTCAGGATGTGCAATGCCGGCTGAGAGCTGGTTTCCAGGTAATAATCCACCAAGGTGTTTACAAGCATAGGGCCACGGTCTAAATCAAGAAAAGGGCAATGGATGATACTTATTCCCCTTAACATCCTAAATTTACCTTACACAGCTTCCTGTCACAAAATCCAGAAAATGTTTCTTTATATGCTATTCTAAGTTTTGTGCAGCATTACAGTTCTGCCTTCTTAATTTAATAATAAGATATTCCAAGCTTATTTGCCTAAATATGCATAAAAACATATGAAGTCATTTTTATTGCCTTTTTTTTTTTTTTTTTTTTGAGATGGAGTCTCACTCTGTTGCCAGGCTGGAGTGCAGTGGCACAATCTCAGCTCACTGCAACCTCTGCCTCCTGGGTTCAAGCAATTCTCGT
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Task1_train_13414
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Located on Chromosome 9, this mutation impacts TSC1 (TSC complex subunit 1). What is its biological consequence — is it benign or pathogenic, and which disease is associated if any?
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Pathogenic; Tuberous sclerosis 1
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GCAACCAGACCATACTCCTAAATGGTTAACAGAAACTTTAAGCCATTTTTCTATTAGCTAAAAGATAATTTAGAAACAGGGATTCCCAAAAGATAATCCAGGATGTTTTTAAATGAGGGAAGGCTAAACGATGACGAAATCAAGAGGTTTGGAATAATGTAACATTGAACCCATCTGATCGAAATTTTTCCATACTTGCATGGACAAGGTATTCAATAGTCATAGTGATGTATTTGAGAACTTACTAAGTACCAACTCTGGACAACATTCTATTTGAGAAAAGCCAAATGCCTAGAAGGTTTTAAACTCTAAAAGTTAAAATCTAGCTTCCTTGCTTTAAGTTGCCTAAAATTTCAGAAACTATACTCATAAAACCATTTCATTCAAATCCTTACAAACATCCTACCTTGAGACATTTTAGTAAAGAAGGCAAAAGAGGTGCTTGAGAGAGCTTATGCTTCCAAGATGGCTGCAGTCTTATGACATGACCCAGTAACGAGAGGATGGATAAACGAGTGGCGGCTTTGCCCACATATTCGTTAATCCTGTCCAAGAGGTGCTGAAAATGTAAAAGAACAAGGGCAGTCCTCACATGAATGTATGAAGTTAACACAAATAAAGACAGCAATGATGTGCTCCAATCTCTCAAGTCTTGTCTCTAATGTAAAGCAAGGGTCATGCAGATAAAAGGTCAAATTCAAGATTTTAAAAACCACGTTAGCAAACAAAACACTGCTGCATTTGGCCTGACAAAAGGCAGCCAGTTTGCAGCTCATGAAAAAGGACCCTACAATACACGCATGCAGAAAGGGGGAGACTTGTTCACAGCCCCTCAATAACCAACAGTCCCAAACTGTGATAGGTTACTGAAGCCATGAGGGGATCCTGCTGGAAGCAGCCACTTATTGCTAGAGCAACCCAGCCTACATGGTTTGGCCTCAAGTATCAATTAGGTAGTAGAAGTTACATTTCAGACCAGAGTAAACAAAAAAACAAGACGGGCCAGGCGCAGTGGCTCATGCCGGCAATCCCTGCACTTTGGGAGGCTGAGGCAGGAGGATAGCTTGAGGCCAGGAGTTCAAGGTTACAGTGAGCTATGATTGTGCCACCACGCTCCAGTCTAGGGAACACAATGAGACCTCACCTCTTTAGAAAACAAAACAAAACAAGATGTACTGTAAAAGGCATGCAATACAAGGTCTTCAAATCCTGGGGAAGTTGCTCTCATATATACACTTAAGACTTACCAAAGTCTGCAATAACAATGCTTTATTAGCTACTTACTAAAAACAAAAGGAAAACATGAAGGAGCCCTCCAAGTGCCGGGTGCTAGGAAACAAGACTCATTAATTTGTCATGTTAGTCCTTTGTACTTGAAGCTTTTCCATATCGATAAAAGTCTAAAAATTCTATTCAAAGTATGGGTTGAAAGATGGGTACCTATGGGCCAAATCATCACTATACAATTATAGTACTGGAAATGTAAGATTTCTTTAAACAAGATCTTTTTTTTTTTTGAGACAGTTTCACTCTTGTTGCCCTGGAGTGCAATGGTGCAATCTCAGGTCACTGCAACCTCCGCCTCCCAGGTTCAAGCGATTCTCCTGCCTCAGCTTCCTGAGTAGCTGAGATTATAGGTGTCCACCACCACGCCCAGCTAATTTTTTGTATTTTTTAGTAGAGACGGGGTTTCACTGTGTTGGCCAGGCTGGTCTCAAACTCGTGACCTCAGGCAATCCACCCGCCTCGGCCTCCTAAGGGGATTACAGGCGTGAGCCACCACACCCGGCCCAAACAAGATCTTTAACAGTCTCTGAAATATGTTTTATTTTGTAAACTTTTCAAGAATCATGGGTCCTACAAAGTAATTTTTATATGTAGTTATAAACTGGGAACAATGTCATCAGTGGCGCACAGAAATCAAAAGAATAAGCTCAGGACAAGTTGCACAGTGGCCGTGCACAGAAGCTGTTGTACTCATGAAGAACATATGAAATGCCTATGATATTTCAGCCATTACCTTGTCATGTGGCTCTTGCAAGGTGGTCAGGATGTGCAATGCCGGCTGAGAGCTGGTTTCCAGGTAATAATCCACCAAGGTGTTTACAAGCATAGGGCCACGGTCTAAATCAAGAAAAGGGCAATGGATGATACTTATTCCCCTTAACATCCTAAATTTACCTTACACAGCTTCCTGTCACAAAATCCAGAAAATGTTTCTTTATATGCTATTCTAAGTTTTGTGCAGCATTACAGTTCTGCCTTCTTAATTTAATAATAAGATATTCCAAGCTTATTTGCCTAAATATGCATAAAAACATATGAAGTCATTTTTATTGCCTTTTTTTTTTTTTTTTTTTTGAGATGGAGTCTCACTCTGTTGCCAGGCTGGAGTGCAGTGGCACAATCTCAGCTCACTGCAACCTCTGCCTCCTGGGTTCAAGCAATTCTCGTGCCTCAGCCTCCCAAGTAGCTAGCTGGGATTACAGGCACCTGCCACCACGCCTGGCTAATTTTTGTATTTTTACTAGAGATGGGGTTTCACCACATTGGCCAACATGGTCTCAATCTCCTGACCTTGTGATCCGCCCGCCTCGGCCTCCCCAAGTGCTGGGATTACAGGCGTGAGCCGCCACACCTGGCCCTTTATTGCTTTTTTAATTACAAAAAATAATCCATATCTACTGTTAAACATTCAGGCTATGTAAAAGTACATAAAATAAAAATGAAAGTGCTCCTCACCACCTGCCTCCCAACCCACTCTTCACAGATAAACACCCTTAAGTTTAGAGTGTGTCTCTTCAAACCCTTTTCTACTTGTATAACCACACGCACACAGCCCTCATGTCCACAGACACAGACACAGTTTGTGCATGTGTGTGTTTTTTCCACTGAACAGTATGTTGTAACCACCTTCCCACGTCAGCATCTATGGCCTATTTCATTTCTTTCCGTCCTCCTAGTGTTCCACTGCATGGCTCTACATAACTAATTTAACCATTCACCTACTGAAGGATACTTGGGTTTTTCCAATTCTTCACTGTATTTCACTCAAAGCTGTAATAAGATACAGATTCTTATAAATGGCCCAAATGGTATGTGTTTTAAAATTGATGACTGATGCTCCAAAAGGCTGAACATCAATTCATATTCCTGCTAACAGTGCCCATTTCTATATTCAATATTTAATTTTGCCAACCTGGTAAGCAAAAAAGGGTACTATTTAAATTTGTATTTCTCATATTAAAAAGAGGTTAAGCACTTTTCATATTAAAAACCACATATATGATTTACAGTTAAAGCAACATCTGGAATTTGCTTTAAAATATTTGGAGGGTGGGAGAGTCAGGGAGGAAAGAATTTGAAACTGGATTCATGGGGTTCACTGCATGATTCTTACTTCATGTGTGTGCATACTTGAGTATTTCCATAATTGAAAGTTTAAAACACATATAGATACTCTCTTTGGGTGTTTAAAAAACTTTTCAGAAGATGAAAACTAAAATGTATCAGCAGGATTCTAGTGGCTCTAAAGTCAATCTCTTCTTTCTAGAAGATAAGCTAAAAAGGATATTATTTTGCTAACCAGAATTGAGGTTCTCTTTAAAGACAGCTGTCACGTCGTCCCGCACACCCAGCATGGGGGAGTCCAGCATGGCAAGAAGCTCCCCGACATTTGCTTGTTGGGCCATTCTCTCGCTCGAAGGCGCTGTGCTGGCTCCAGGACGTGTGCTACAGGTTCTGAAGGTTCTTCATTGGGGCCACTACCAAACTGAGAAAAAGGAAGATGAACAGTCACTAAATGGCCCCATTTTTCTCCATAAAAAAAGAAAATACCTGCAAGACAAACTAATGCACGTGTTCAATGCAATGGAAAGTTTGGCCAGAATTCTCTGATTCAAACAGTGAGTACATTTAGCTGATAAAAGAAGATAAAGTGTATGAATAATTCTTTGGCGAGTTTATGAAGAGGGTTTCTACAAAATATAACAATCAGAAAGAAACCTTAAAAACTGATACCAGTCACAGCAACTTAATGATAGGATCAAATCTAAGTTTTATTCCTACTTCTGATTCTACCTTGGGTTTTGGCTAA
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GCAACCAGACCATACTCCTAAATGGTTAACAGAAACTTTAAGCCATTTTTCTATTAGCTAAAAGATAATTTAGAAACAGGGATTCCCAAAAGATAATCCAGGATGTTTTTAAATGAGGGAAGGCTAAACGATGACGAAATCAAGAGGTTTGGAATAATGTAACATTGAACCCATCTGATCGAAATTTTTCCATACTTGCATGGACAAGGTATTCAATAGTCATAGTGATGTATTTGAGAACTTACTAAGTACCAACTCTGGACAACATTCTATTTGAGAAAAGCCAAATGCCTAGAAGGTTTTAAACTCTAAAAGTTAAAATCTAGCTTCCTTGCTTTAAGTTGCCTAAAATTTCAGAAACTATACTCATAAAACCATTTCATTCAAATCCTTACAAACATCCTACCTTGAGACATTTTAGTAAAGAAGGCAAAAGAGGTGCTTGAGAGAGCTTATGCTTCCAAGATGGCTGCAGTCTTATGACATGACCCAGTAACGAGAGGATGGATAAACGAGTGGCGGCTTTGCCCACATATTCGTTAATCCTGTCCAAGAGGTGCTGAAAATGTAAAAGAACAAGGGCAGTCCTCACATGAATGTATGAAGTTAACACAAATAAAGACAGCAATGATGTGCTCCAATCTCTCAAGTCTTGTCTCTAATGTAAAGCAAGGGTCATGCAGATAAAAGGTCAAATTCAAGATTTTAAAAACCACGTTAGCAAACAAAACACTGCTGCATTTGGCCTGACAAAAGGCAGCCAGTTTGCAGCTCATGAAAAAGGACCCTACAATACACGCATGCAGAAAGGGGGAGACTTGTTCACAGCCCCTCAATAACCAACAGTCCCAAACTGTGATAGGTTACTGAAGCCATGAGGGGATCCTGCTGGAAGCAGCCACTTATTGCTAGAGCAACCCAGCCTACATGGTTTGGCCTCAAGTATCAATTAGGTAGTAGAAGTTACATTTCAGACCAGAGTAAACAAAAAAACAAGACGGGCCAGGCGCAGTGGCTCATGCCGGCAATCCCTGCACTTTGGGAGGCTGAGGCAGGAGGATAGCTTGAGGCCAGGAGTTCAAGGTTACAGTGAGCTATGATTGTGCCACCACGCTCCAGTCTAGGGAACACAATGAGACCTCACCTCTTTAGAAAACAAAACAAAACAAGATGTACTGTAAAAGGCATGCAATACAAGGTCTTCAAATCCTGGGGAAGTTGCTCTCATATATACACTTAAGACTTACCAAAGTCTGCAATAACAATGCTTTATTAGCTACTTACTAAAAACAAAAGGAAAACATGAAGGAGCCCTCCAAGTGCCGGGTGCTAGGAAACAAGACTCATTAATTTGTCATGTTAGTCCTTTGTACTTGAAGCTTTTCCATATCGATAAAAGTCTAAAAATTCTATTCAAAGTATGGGTTGAAAGATGGGTACCTATGGGCCAAATCATCACTATACAATTATAGTACTGGAAATGTAAGATTTCTTTAAACAAGATCTTTTTTTTTTTTGAGACAGTTTCACTCTTGTTGCCCTGGAGTGCAATGGTGCAATCTCAGGTCACTGCAACCTCCGCCTCCCAGGTTCAAGCGATTCTCCTGCCTCAGCTTCCTGAGTAGCTGAGATTATAGGTGTCCACCACCACGCCCAGCTAATTTTTTGTATTTTTTAGTAGAGACGGGGTTTCACTGTGTTGGCCAGGCTGGTCTCAAACTCGTGACCTCAGGCAATCCACCCGCCTCGGCCTCCTAAGGGGATTACAGGCGTGAGCCACCACACCCGGCCCAAACAAGATCTTTAACAGTCTCTGAAATATGTTTTATTTTGTAAACTTTTCAAGAATCATGGGTCCTACAAAGTAATTTTTATATGTAGTTATAAACTGGGAACAATGTCATCAGTGGCGCACAGAAATCAAAAGAATAAGCTCAGGACAAGTTGCACAGTGGCCGTGCACAGAAGCTGTTGTACTCATGAAGAACATATGAAATGCCTATGATATTTCAGCCATTACCTTGTCATGTGGCTCTTGCAAGGTGGTCGGGATGTGCAATGCCGGCTGAGAGCTGGTTTCCAGGTAATAATCCACCAAGGTGTTTACAAGCATAGGGCCACGGTCTAAATCAAGAAAAGGGCAATGGATGATACTTATTCCCCTTAACATCCTAAATTTACCTTACACAGCTTCCTGTCACAAAATCCAGAAAATGTTTCTTTATATGCTATTCTAAGTTTTGTGCAGCATTACAGTTCTGCCTTCTTAATTTAATAATAAGATATTCCAAGCTTATTTGCCTAAATATGCATAAAAACATATGAAGTCATTTTTATTGCCTTTTTTTTTTTTTTTTTTTTGAGATGGAGTCTCACTCTGTTGCCAGGCTGGAGTGCAGTGGCACAATCTCAGCTCACTGCAACCTCTGCCTCCTGGGTTCAAGCAATTCTCGTGCCTCAGCCTCCCAAGTAGCTAGCTGGGATTACAGGCACCTGCCACCACGCCTGGCTAATTTTTGTATTTTTACTAGAGATGGGGTTTCACCACATTGGCCAACATGGTCTCAATCTCCTGACCTTGTGATCCGCCCGCCTCGGCCTCCCCAAGTGCTGGGATTACAGGCGTGAGCCGCCACACCTGGCCCTTTATTGCTTTTTTAATTACAAAAAATAATCCATATCTACTGTTAAACATTCAGGCTATGTAAAAGTACATAAAATAAAAATGAAAGTGCTCCTCACCACCTGCCTCCCAACCCACTCTTCACAGATAAACACCCTTAAGTTTAGAGTGTGTCTCTTCAAACCCTTTTCTACTTGTATAACCACACGCACACAGCCCTCATGTCCACAGACACAGACACAGTTTGTGCATGTGTGTGTTTTTTCCACTGAACAGTATGTTGTAACCACCTTCCCACGTCAGCATCTATGGCCTATTTCATTTCTTTCCGTCCTCCTAGTGTTCCACTGCATGGCTCTACATAACTAATTTAACCATTCACCTACTGAAGGATACTTGGGTTTTTCCAATTCTTCACTGTATTTCACTCAAAGCTGTAATAAGATACAGATTCTTATAAATGGCCCAAATGGTATGTGTTTTAAAATTGATGACTGATGCTCCAAAAGGCTGAACATCAATTCATATTCCTGCTAACAGTGCCCATTTCTATATTCAATATTTAATTTTGCCAACCTGGTAAGCAAAAAAGGGTACTATTTAAATTTGTATTTCTCATATTAAAAAGAGGTTAAGCACTTTTCATATTAAAAACCACATATATGATTTACAGTTAAAGCAACATCTGGAATTTGCTTTAAAATATTTGGAGGGTGGGAGAGTCAGGGAGGAAAGAATTTGAAACTGGATTCATGGGGTTCACTGCATGATTCTTACTTCATGTGTGTGCATACTTGAGTATTTCCATAATTGAAAGTTTAAAACACATATAGATACTCTCTTTGGGTGTTTAAAAAACTTTTCAGAAGATGAAAACTAAAATGTATCAGCAGGATTCTAGTGGCTCTAAAGTCAATCTCTTCTTTCTAGAAGATAAGCTAAAAAGGATATTATTTTGCTAACCAGAATTGAGGTTCTCTTTAAAGACAGCTGTCACGTCGTCCCGCACACCCAGCATGGGGGAGTCCAGCATGGCAAGAAGCTCCCCGACATTTGCTTGTTGGGCCATTCTCTCGCTCGAAGGCGCTGTGCTGGCTCCAGGACGTGTGCTACAGGTTCTGAAGGTTCTTCATTGGGGCCACTACCAAACTGAGAAAAAGGAAGATGAACAGTCACTAAATGGCCCCATTTTTCTCCATAAAAAAAGAAAATACCTGCAAGACAAACTAATGCACGTGTTCAATGCAATGGAAAGTTTGGCCAGAATTCTCTGATTCAAACAGTGAGTACATTTAGCTGATAAAAGAAGATAAAGTGTATGAATAATTCTTTGGCGAGTTTATGAAGAGGGTTTCTACAAAATATAACAATCAGAAAGAAACCTTAAAAACTGATACCAGTCACAGCAACTTAATGATAGGATCAAATCTAAGTTTTATTCCTACTTCTGATTCTACCTTGGGTTTTGGCTAA
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Task1_train_13415
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A variant affecting Chromosome 9, within the gene GFI1B (growth factor independent 1B transcriptional repressor), has been observed. Determine if it's benign or associated with disease.
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Pathogenic; Platelet-type bleeding disorder 17
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CTCACTGGAGGCCCAGTCTAGGGCTGGAGTTGGGTTGCTCAGAAAAACAGACTGGTCCAAAGTCTTCCCCGGGGTCTCCTCCTGGCCTCTTCTTGCCGCCGCCTGCTCTGGGCAGAGCCCGGGAGTGTGAGCCGCCAGAAGCAGCGGCACGTGGCTGTCTCTCTGGGCCTCCTCCTCCTAGGAAGGGCGTGCCCTCCTTGCTCCCTCTGGGCTTCCCAGAAACCGTGGCTATTGATGCTGATGGTCCTATCTCCCCACAGTGCCCAGAGACCAGGCTCCAAGCAACAGCCCTGTCCTTAGCACTCTATTCCCAAACCAGTGCCTGGACTGGACCAACCTCAAACGAGAGCCGGAGCTGGAGCAGGACCAGAACTTGGCCAGGATGGCCCCGGCACCAGGTACCCCGCTGTGACCCACTGTCATTCCCCAGGGAGTGCCAAGGGGAGGAAGGATGAAGGGACTCTTGCAGCAGGGCCCCTTGGGGCCCTGGAGTCAGGAAGGACCCACGAAGTCACTGGATGCAGCCCGGGCTCTGTGGCTTCTGCTTGGGCCTCTCAGACAGGGAGCTAATTCCCGGATGTGGGCTAGGTGGGAGAAGAGGCCAGAAGCAGCAGCTGGGCCGGTCCGTGCAGGGAGTGAGGTGGGCACTGTGGAGTGAGGCTGGGGGTGTCTCTGGGCTGGAAAAGCTGAGGAGCCACAGTGAGGACCCAGACATTCCTGGCAGTAAGTATCTGGGTTGACACCCTGAAACCCTCCACATGAGGTGATGAAGGTAGTGGTGTGTGGTAGAGGGTGGTGGGAAGGGGGTGCCCTGTGTTTATTTTATTTCATTTTATTTTTTGAGACAGTGTCTCACTCTGTTGCCCAGGCTGGAGTGCAGTGGCACGATCTCAACTCACTGCAACCTCTGCCTCCCAGGTTCAAGCAATTCTCCTGCCTCAGCCTCCCTAGTAGCTGGGATTATAGGCGTGAGCCACCACGCCTGGCTAATTTTTGTATTTTTTGGTAGAGACAGAGTTTCACCACGTTGGTCCGCCTGGTCTTGAACTCCCGACCTCAAGTGACCCACTTGCCTCAGCCTCCCAAAGTGCTGGAATTGCAGGCATGAGCCACGCCACTGTGCCCAACCCCCTGTGTTTAAATGAGTAACCAGGCCTGTGTCGTTATCTCCACAGAGGGCCCCATTGTGCTGTCCCGACCCCAGGATGGGGACTCTCCACTGTCCGACTCACCCCCATTCTACAAGCCTAGCTTCTCCTGGGACACCTTGGCCACAACCTATGGCCACAGCTACCGGCAGGCCCCCTCCACCATGCAGTCAGCCTTCCTGGAGCACTCCGTCAGCCTGTACGGCAGTCCTCTTGTGCCCAGCACTGAGCCCGCCTTGGACTTCAGCCTCCGCTACTCCCCAGGCATGGATGCGTACCACTGTGTGAAGTGCAACAAGGTGGGCAGCGGGGGGTGTGGTGGGCACCTGGGCCCTCCTCTCCGCACTCCCTCTCAACTCACTGGCAGCTCTGGGCGTTCTCTGTGCTGTGAATGTTGGGGCTCTGGTGGGATTAAGGATTCAAAACGTTCATCCTCATCACCATTCATTGAGCTCTGACCACGTGCCTGGCCCTGTGCTAAGCAATTGACAGGCATGAGTGCCAGAGTCAGATGAAAGGTTAAGGTTCAGAGAGGTTAAGTCACTTTTCCAGGATCAGACAGCAAGTAGATATCAGAACCAGCATTCAAACCCAGCTTCGGCCAACTCCCAGCTCTTAACCACTGGGCTATTCAGCCTCTAGATGAGGCAAGGAGGGGCCTCCAGATCCCCTCTCTCACATCCAACTTTGTAGAAGGGAGACTGAGCCACAGAGAGGCAAACGGACCTCCCTGGGACACACAGCAAGCAAGCAGCAGAACTGGCAATCCAGTGCCCCTTACTCTGTGTACCCAGCCTTGGCCAGAGCTGGGCATGGAAGAGACCATGGGACCCCAGGCCTGTCCCTGTCACCGCAGCCCCCAGTGGCCTCACATGCTGCCCCTGCTCCCAGGTCTTCTCCACCCCTCACGGGCTCGAAGTGCATGTGCGACGCTCCCATAGTGGGACCCGGCCCTTCGCCTGTGACATCTGCGGCAAAACCTTCGGCCACGCTGTGAGCCTGGAGCAGCACACGCACGTCCACTCCCAGGTGGGCACCTGGCCCAGCGCAGGACTCCCAGCCCCACTCCTTCTCTGTGCTTCCCCAGGGAGCCTGGGGGCTGTGGCTGGGTCCCTCCCCCTGCCCCTGGGGGTGACACAGATTGGGAGGGGTCCCCTAGTACCCACCTCCCTGGGTCTGGGTCTCCAACACCTGCCCTTAACAAACTTCAGACTCTTAACTAAACCACCGTGCAGACCACAACCATCCCTGCCTCAAGGAACTCACTCTAGGTTAATGGTCATGAAATGTGAACCCCTAAAGAACCTCTGAGATCAGTCAGTCCATCAGTCAATCAACGAACATTTATTGAGGTTTATTTTGAGCGGGATACCGTGAAGATTACAAGGAAAAATCCCACAGGAGACCAATGAGACTCCAAGCCCCAGTTTCACCTCAGAGGCAGAGATGAGGGGTCCCCCGGTCCTGCTCCTCCAGGCCGCCCCAATGGAGTGTCCTGTTCCGCAGGGGATCCCGGCCGGGTCCAGTCCTGAGCCTGCACCTGACCCCCCGGGGCCTCATTTCCTCCGGCAGGAGCGCAGCTTCGAGTGCCGCATGTGCGGCAAGGCCTTCAAGCGCTCGTCCACGCTGTCCACCCACCTGCTCATCCACTCAGACACGCGGCCCTACCCCTGCCAGTTCTGCGGCAAGCGTTTCCACCAGAAGTCCGACATGAAGAAGCACACCTACATCCACACAGGTGAGTGAGTCTCACCTGCCTGTGCCCCCTGGGCAGAGCACCCCCACCTTTCCCTGAGAGATGCATCAGAGGCCCCCAGCGTGAGGCTGGGGGCGGGGTCTAGTTACAAAGTCAAAGGCCACTGCTGATGGAGGGCTGGGCACCTGTGCTACTTAAGTGCACTTAATGCATGGAAAAAAATACAGGGAGGAAACAGCAAAATCTCAACACTGTTGATCTCATGGCAGACATGAGACTAGCAGGCGAACTGCTCATTCATTTGTTCACTCATTCACTCACTCACTTGCTCATTCATTTGTTCACTCATTTGCTCATTTATTCACACATTCGCTCACTCATTTGCTCATTCATTTGTTCACTCATTCATTCATTTGCTCATTCATTTGTTCACTCATTCATTTGCTCATTCATTTGTTCAGTCATTCATTCATTTGTTCACTCATTTGCTCATTCATTTGTTCACTCATTCATTCATTTGTTCACTCATTTGCTCATTCATTTGTTCACTCATTCATTCATTTGTTGATTCATTTGTTCACTCATTCACTCATTTGCTCATTTATTCACACATTCGCTCACTCATTTGCTCATTCATTTGTTCACTCATTCATTTGCTTATTCATTCCTTCACTCATTCATTCACTTGCTTATTCATTGCCTCCTTGCTATTAGCTGAGTGCCTCTTTTGTGCCAGGTATACCAGGCTTGGAGATGTATTGATAAACAAGATGACTCGGCAGCTGCCCCTAACCACCCTATAATCCAGTAGGGGTGGAGGAGGGTCCAAGTTGTATCTTTGCTTCTCTCTCTTTTCTAATTATTTTCTAAAGTGAATGTGAGTTGGCCATGAGAGAAAACACAGGAAGGTATTGGAAAATGAACCCGGGGGCAGGGCAGGGGAGCAGCAGGCCTGGTGAGGAGGCCCTGACCCCGCCCTTGCTGTGCTGCGCTGCCCTCCCTGCAGGTGAGAAGCCGCACAAGTGCCAGGTGTGCGGAAAGGCCTTCAGCCAGAGCTCCAACCTCATCACCCACAGCCGCAAGCACACAGGCTTCAAGCCCTTCAGCTGTGAGCTGTGCACCAAAGGCTTCCAGCGCAAGGTGGACCTGCGGCGGCACCGCGAGAGCCAGCACAATCTCAAGTGAGGCTGCGCCGGCTCCCAGCTCCTGGCCAGCCTGCCCTGCGGTCCTGTCACCTGGAGGCCAGCCTCAC
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CTCACTGGAGGCCCAGTCTAGGGCTGGAGTTGGGTTGCTCAGAAAAACAGACTGGTCCAAAGTCTTCCCCGGGGTCTCCTCCTGGCCTCTTCTTGCCGCCGCCTGCTCTGGGCAGAGCCCGGGAGTGTGAGCCGCCAGAAGCAGCGGCACGTGGCTGTCTCTCTGGGCCTCCTCCTCCTAGGAAGGGCGTGCCCTCCTTGCTCCCTCTGGGCTTCCCAGAAACCGTGGCTATTGATGCTGATGGTCCTATCTCCCCACAGTGCCCAGAGACCAGGCTCCAAGCAACAGCCCTGTCCTTAGCACTCTATTCCCAAACCAGTGCCTGGACTGGACCAACCTCAAACGAGAGCCGGAGCTGGAGCAGGACCAGAACTTGGCCAGGATGGCCCCGGCACCAGGTACCCCGCTGTGACCCACTGTCATTCCCCAGGGAGTGCCAAGGGGAGGAAGGATGAAGGGACTCTTGCAGCAGGGCCCCTTGGGGCCCTGGAGTCAGGAAGGACCCACGAAGTCACTGGATGCAGCCCGGGCTCTGTGGCTTCTGCTTGGGCCTCTCAGACAGGGAGCTAATTCCCGGATGTGGGCTAGGTGGGAGAAGAGGCCAGAAGCAGCAGCTGGGCCGGTCCGTGCAGGGAGTGAGGTGGGCACTGTGGAGTGAGGCTGGGGGTGTCTCTGGGCTGGAAAAGCTGAGGAGCCACAGTGAGGACCCAGACATTCCTGGCAGTAAGTATCTGGGTTGACACCCTGAAACCCTCCACATGAGGTGATGAAGGTAGTGGTGTGTGGTAGAGGGTGGTGGGAAGGGGGTGCCCTGTGTTTATTTTATTTCATTTTATTTTTTGAGACAGTGTCTCACTCTGTTGCCCAGGCTGGAGTGCAGTGGCACGATCTCAACTCACTGCAACCTCTGCCTCCCAGGTTCAAGCAATTCTCCTGCCTCAGCCTCCCTAGTAGCTGGGATTATAGGCGTGAGCCACCACGCCTGGCTAATTTTTGTATTTTTTGGTAGAGACAGAGTTTCACCACGTTGGTCCGCCTGGTCTTGAACTCCCGACCTCAAGTGACCCACTTGCCTCAGCCTCCCAAAGTGCTGGAATTGCAGGCATGAGCCACGCCACTGTGCCCAACCCCCTGTGTTTAAATGAGTAACCAGGCCTGTGTCGTTATCTCCACAGAGGGCCCCATTGTGCTGTCCCGACCCCAGGATGGGGACTCTCCACTGTCCGACTCACCCCCATTCTACAAGCCTAGCTTCTCCTGGGACACCTTGGCCACAACCTATGGCCACAGCTACCGGCAGGCCCCCTCCACCATGCAGTCAGCCTTCCTGGAGCACTCCGTCAGCCTGTACGGCAGTCCTCTTGTGCCCAGCACTGAGCCCGCCTTGGACTTCAGCCTCCGCTACTCCCCAGGCATGGATGCGTACCACTGTGTGAAGTGCAACAAGGTGGGCAGCGGGGGGTGTGGTGGGCACCTGGGCCCTCCTCTCCGCACTCCCTCTCAACTCACTGGCAGCTCTGGGCGTTCTCTGTGCTGTGAATGTTGGGGCTCTGGTGGGATTAAGGATTCAAAACGTTCATCCTCATCACCATTCATTGAGCTCTGACCACGTGCCTGGCCCTGTGCTAAGCAATTGACAGGCATGAGTGCCAGAGTCAGATGAAAGGTTAAGGTTCAGAGAGGTTAAGTCACTTTTCCAGGATCAGACAGCAAGTAGATATCAGAACCAGCATTCAAACCCAGCTTCGGCCAACTCCCAGCTCTTAACCACTGGGCTATTCAGCCTCTAGATGAGGCAAGGAGGGGCCTCCAGATCCCCTCTCTCACATCCAACTTTGTAGAAGGGAGACTGAGCCACAGAGAGGCAAACGGACCTCCCTGGGACACACAGCAAGCAAGCAGCAGAACTGGCAATCCAGTGCCCCTTACTCTGTGTACCCAGCCTTGGCCAGAGCTGGGCATGGAAGAGACCATGGGACCCCAGGCCTGTCCCTGTCACCGCAGCCCCCAGTGGCCTCACATGCTGCCCCTGCTCCCAGGTCTTCTCCGCCCCTCACGGGCTCGAAGTGCATGTGCGACGCTCCCATAGTGGGACCCGGCCCTTCGCCTGTGACATCTGCGGCAAAACCTTCGGCCACGCTGTGAGCCTGGAGCAGCACACGCACGTCCACTCCCAGGTGGGCACCTGGCCCAGCGCAGGACTCCCAGCCCCACTCCTTCTCTGTGCTTCCCCAGGGAGCCTGGGGGCTGTGGCTGGGTCCCTCCCCCTGCCCCTGGGGGTGACACAGATTGGGAGGGGTCCCCTAGTACCCACCTCCCTGGGTCTGGGTCTCCAACACCTGCCCTTAACAAACTTCAGACTCTTAACTAAACCACCGTGCAGACCACAACCATCCCTGCCTCAAGGAACTCACTCTAGGTTAATGGTCATGAAATGTGAACCCCTAAAGAACCTCTGAGATCAGTCAGTCCATCAGTCAATCAACGAACATTTATTGAGGTTTATTTTGAGCGGGATACCGTGAAGATTACAAGGAAAAATCCCACAGGAGACCAATGAGACTCCAAGCCCCAGTTTCACCTCAGAGGCAGAGATGAGGGGTCCCCCGGTCCTGCTCCTCCAGGCCGCCCCAATGGAGTGTCCTGTTCCGCAGGGGATCCCGGCCGGGTCCAGTCCTGAGCCTGCACCTGACCCCCCGGGGCCTCATTTCCTCCGGCAGGAGCGCAGCTTCGAGTGCCGCATGTGCGGCAAGGCCTTCAAGCGCTCGTCCACGCTGTCCACCCACCTGCTCATCCACTCAGACACGCGGCCCTACCCCTGCCAGTTCTGCGGCAAGCGTTTCCACCAGAAGTCCGACATGAAGAAGCACACCTACATCCACACAGGTGAGTGAGTCTCACCTGCCTGTGCCCCCTGGGCAGAGCACCCCCACCTTTCCCTGAGAGATGCATCAGAGGCCCCCAGCGTGAGGCTGGGGGCGGGGTCTAGTTACAAAGTCAAAGGCCACTGCTGATGGAGGGCTGGGCACCTGTGCTACTTAAGTGCACTTAATGCATGGAAAAAAATACAGGGAGGAAACAGCAAAATCTCAACACTGTTGATCTCATGGCAGACATGAGACTAGCAGGCGAACTGCTCATTCATTTGTTCACTCATTCACTCACTCACTTGCTCATTCATTTGTTCACTCATTTGCTCATTTATTCACACATTCGCTCACTCATTTGCTCATTCATTTGTTCACTCATTCATTCATTTGCTCATTCATTTGTTCACTCATTCATTTGCTCATTCATTTGTTCAGTCATTCATTCATTTGTTCACTCATTTGCTCATTCATTTGTTCACTCATTCATTCATTTGTTCACTCATTTGCTCATTCATTTGTTCACTCATTCATTCATTTGTTGATTCATTTGTTCACTCATTCACTCATTTGCTCATTTATTCACACATTCGCTCACTCATTTGCTCATTCATTTGTTCACTCATTCATTTGCTTATTCATTCCTTCACTCATTCATTCACTTGCTTATTCATTGCCTCCTTGCTATTAGCTGAGTGCCTCTTTTGTGCCAGGTATACCAGGCTTGGAGATGTATTGATAAACAAGATGACTCGGCAGCTGCCCCTAACCACCCTATAATCCAGTAGGGGTGGAGGAGGGTCCAAGTTGTATCTTTGCTTCTCTCTCTTTTCTAATTATTTTCTAAAGTGAATGTGAGTTGGCCATGAGAGAAAACACAGGAAGGTATTGGAAAATGAACCCGGGGGCAGGGCAGGGGAGCAGCAGGCCTGGTGAGGAGGCCCTGACCCCGCCCTTGCTGTGCTGCGCTGCCCTCCCTGCAGGTGAGAAGCCGCACAAGTGCCAGGTGTGCGGAAAGGCCTTCAGCCAGAGCTCCAACCTCATCACCCACAGCCGCAAGCACACAGGCTTCAAGCCCTTCAGCTGTGAGCTGTGCACCAAAGGCTTCCAGCGCAAGGTGGACCTGCGGCGGCACCGCGAGAGCCAGCACAATCTCAAGTGAGGCTGCGCCGGCTCCCAGCTCCTGGCCAGCCTGCCCTGCGGTCCTGTCACCTGGAGGCCAGCCTCAC
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Task1_train_13416
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This variant affects the gene GFI1B (growth factor independent 1B transcriptional repressor) found on Chromosome 9. What is the clinical effect of this variant — benign or pathogenic? State the disease if applicable.
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Pathogenic; Platelet-type bleeding disorder 17
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TCCTGGCAGTAAGTATCTGGGTTGACACCCTGAAACCCTCCACATGAGGTGATGAAGGTAGTGGTGTGTGGTAGAGGGTGGTGGGAAGGGGGTGCCCTGTGTTTATTTTATTTCATTTTATTTTTTGAGACAGTGTCTCACTCTGTTGCCCAGGCTGGAGTGCAGTGGCACGATCTCAACTCACTGCAACCTCTGCCTCCCAGGTTCAAGCAATTCTCCTGCCTCAGCCTCCCTAGTAGCTGGGATTATAGGCGTGAGCCACCACGCCTGGCTAATTTTTGTATTTTTTGGTAGAGACAGAGTTTCACCACGTTGGTCCGCCTGGTCTTGAACTCCCGACCTCAAGTGACCCACTTGCCTCAGCCTCCCAAAGTGCTGGAATTGCAGGCATGAGCCACGCCACTGTGCCCAACCCCCTGTGTTTAAATGAGTAACCAGGCCTGTGTCGTTATCTCCACAGAGGGCCCCATTGTGCTGTCCCGACCCCAGGATGGGGACTCTCCACTGTCCGACTCACCCCCATTCTACAAGCCTAGCTTCTCCTGGGACACCTTGGCCACAACCTATGGCCACAGCTACCGGCAGGCCCCCTCCACCATGCAGTCAGCCTTCCTGGAGCACTCCGTCAGCCTGTACGGCAGTCCTCTTGTGCCCAGCACTGAGCCCGCCTTGGACTTCAGCCTCCGCTACTCCCCAGGCATGGATGCGTACCACTGTGTGAAGTGCAACAAGGTGGGCAGCGGGGGGTGTGGTGGGCACCTGGGCCCTCCTCTCCGCACTCCCTCTCAACTCACTGGCAGCTCTGGGCGTTCTCTGTGCTGTGAATGTTGGGGCTCTGGTGGGATTAAGGATTCAAAACGTTCATCCTCATCACCATTCATTGAGCTCTGACCACGTGCCTGGCCCTGTGCTAAGCAATTGACAGGCATGAGTGCCAGAGTCAGATGAAAGGTTAAGGTTCAGAGAGGTTAAGTCACTTTTCCAGGATCAGACAGCAAGTAGATATCAGAACCAGCATTCAAACCCAGCTTCGGCCAACTCCCAGCTCTTAACCACTGGGCTATTCAGCCTCTAGATGAGGCAAGGAGGGGCCTCCAGATCCCCTCTCTCACATCCAACTTTGTAGAAGGGAGACTGAGCCACAGAGAGGCAAACGGACCTCCCTGGGACACACAGCAAGCAAGCAGCAGAACTGGCAATCCAGTGCCCCTTACTCTGTGTACCCAGCCTTGGCCAGAGCTGGGCATGGAAGAGACCATGGGACCCCAGGCCTGTCCCTGTCACCGCAGCCCCCAGTGGCCTCACATGCTGCCCCTGCTCCCAGGTCTTCTCCACCCCTCACGGGCTCGAAGTGCATGTGCGACGCTCCCATAGTGGGACCCGGCCCTTCGCCTGTGACATCTGCGGCAAAACCTTCGGCCACGCTGTGAGCCTGGAGCAGCACACGCACGTCCACTCCCAGGTGGGCACCTGGCCCAGCGCAGGACTCCCAGCCCCACTCCTTCTCTGTGCTTCCCCAGGGAGCCTGGGGGCTGTGGCTGGGTCCCTCCCCCTGCCCCTGGGGGTGACACAGATTGGGAGGGGTCCCCTAGTACCCACCTCCCTGGGTCTGGGTCTCCAACACCTGCCCTTAACAAACTTCAGACTCTTAACTAAACCACCGTGCAGACCACAACCATCCCTGCCTCAAGGAACTCACTCTAGGTTAATGGTCATGAAATGTGAACCCCTAAAGAACCTCTGAGATCAGTCAGTCCATCAGTCAATCAACGAACATTTATTGAGGTTTATTTTGAGCGGGATACCGTGAAGATTACAAGGAAAAATCCCACAGGAGACCAATGAGACTCCAAGCCCCAGTTTCACCTCAGAGGCAGAGATGAGGGGTCCCCCGGTCCTGCTCCTCCAGGCCGCCCCAATGGAGTGTCCTGTTCCGCAGGGGATCCCGGCCGGGTCCAGTCCTGAGCCTGCACCTGACCCCCCGGGGCCTCATTTCCTCCGGCAGGAGCGCAGCTTCGAGTGCCGCATGTGCGGCAAGGCCTTCAAGCGCTCGTCCACGCTGTCCACCCACCTGCTCATCCACTCAGACACGCGGCCCTACCCCTGCCAGTTCTGCGGCAAGCGTTTCCACCAGAAGTCCGACATGAAGAAGCACACCTACATCCACACAGGTGAGTGAGTCTCACCTGCCTGTGCCCCCTGGGCAGAGCACCCCCACCTTTCCCTGAGAGATGCATCAGAGGCCCCCAGCGTGAGGCTGGGGGCGGGGTCTAGTTACAAAGTCAAAGGCCACTGCTGATGGAGGGCTGGGCACCTGTGCTACTTAAGTGCACTTAATGCATGGAAAAAAATACAGGGAGGAAACAGCAAAATCTCAACACTGTTGATCTCATGGCAGACATGAGACTAGCAGGCGAACTGCTCATTCATTTGTTCACTCATTCACTCACTCACTTGCTCATTCATTTGTTCACTCATTTGCTCATTTATTCACACATTCGCTCACTCATTTGCTCATTCATTTGTTCACTCATTCATTCATTTGCTCATTCATTTGTTCACTCATTCATTTGCTCATTCATTTGTTCAGTCATTCATTCATTTGTTCACTCATTTGCTCATTCATTTGTTCACTCATTCATTCATTTGTTCACTCATTTGCTCATTCATTTGTTCACTCATTCATTCATTTGTTGATTCATTTGTTCACTCATTCACTCATTTGCTCATTTATTCACACATTCGCTCACTCATTTGCTCATTCATTTGTTCACTCATTCATTTGCTTATTCATTCCTTCACTCATTCATTCACTTGCTTATTCATTGCCTCCTTGCTATTAGCTGAGTGCCTCTTTTGTGCCAGGTATACCAGGCTTGGAGATGTATTGATAAACAAGATGACTCGGCAGCTGCCCCTAACCACCCTATAATCCAGTAGGGGTGGAGGAGGGTCCAAGTTGTATCTTTGCTTCTCTCTCTTTTCTAATTATTTTCTAAAGTGAATGTGAGTTGGCCATGAGAGAAAACACAGGAAGGTATTGGAAAATGAACCCGGGGGCAGGGCAGGGGAGCAGCAGGCCTGGTGAGGAGGCCCTGACCCCGCCCTTGCTGTGCTGCGCTGCCCTCCCTGCAGGTGAGAAGCCGCACAAGTGCCAGGTGTGCGGAAAGGCCTTCAGCCAGAGCTCCAACCTCATCACCCACAGCCGCAAGCACACAGGCTTCAAGCCCTTCAGCTGTGAGCTGTGCACCAAAGGCTTCCAGCGCAAGGTGGACCTGCGGCGGCACCGCGAGAGCCAGCACAATCTCAAGTGAGGCTGCGCCGGCTCCCAGCTCCTGGCCAGCCTGCCCTGCGGTCCTGTCACCTGGAGGCCAGCCTCACATGCCCAAATCTCCAGTCTCCTGGAGGTGGGACTGGACAGGAGTCTACCAGCTTGTTTTGAGACTCATGAAATTGCTGTGTGACCTTGGGCAAGTCACTTACCCTGTCTGGATCAACATTTCTCCTGCTGCCAAGTGTGGGAGCCTGGCTGGGTCTTTCTCAGCAGAAGTTGTTTCCAGGTGTGCTCAAGTGCCTTCCTCTAGCAGAGCACAGAAAGCTAGAATACCCCCAGGGAGACAGGGATGCCAAGAGTAGACCAGAGCTGGGACCCACAGACAGAACCTCCACCTGCCTGCTGCCCACTGAGCTGGGACCTGGTCACCTTGGATTTTAGCCGGCCTCTTTCTGGCTATAACAGGCAGAGTCGGAGCTGCCTCCCACCCCAGTCAGAAGCCTGGCACCCCCTCTGCTTCGGCCAGATGTGCTGGCTGACTCCGACTTCCGACCAGCACTCAGCTGGCCTCTGGGGATTCTAGCTCCACAACCAGGCCGTGAGGCTGGAGAAACTGGCAGTTATTGCTGTCAAAAGCCTGTTCTCTCAACTGCTGTCAATAAAATTAAAGATACAGATTTGCTGCCATGTGACCAGCATTTATTAAGTGCCTATGAGGTCCAGGGTACTGCACGAGGCTTTGGGGAGTGATGCGGGGAGGCTTGAGGAGCAGAGAAAGCCATGGAGGTGCTCATAGGCAAGTTGTGGAGAAGTGTACTCAGC
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TCCTGGCAGTAAGTATCTGGGTTGACACCCTGAAACCCTCCACATGAGGTGATGAAGGTAGTGGTGTGTGGTAGAGGGTGGTGGGAAGGGGGTGCCCTGTGTTTATTTTATTTCATTTTATTTTTTGAGACAGTGTCTCACTCTGTTGCCCAGGCTGGAGTGCAGTGGCACGATCTCAACTCACTGCAACCTCTGCCTCCCAGGTTCAAGCAATTCTCCTGCCTCAGCCTCCCTAGTAGCTGGGATTATAGGCGTGAGCCACCACGCCTGGCTAATTTTTGTATTTTTTGGTAGAGACAGAGTTTCACCACGTTGGTCCGCCTGGTCTTGAACTCCCGACCTCAAGTGACCCACTTGCCTCAGCCTCCCAAAGTGCTGGAATTGCAGGCATGAGCCACGCCACTGTGCCCAACCCCCTGTGTTTAAATGAGTAACCAGGCCTGTGTCGTTATCTCCACAGAGGGCCCCATTGTGCTGTCCCGACCCCAGGATGGGGACTCTCCACTGTCCGACTCACCCCCATTCTACAAGCCTAGCTTCTCCTGGGACACCTTGGCCACAACCTATGGCCACAGCTACCGGCAGGCCCCCTCCACCATGCAGTCAGCCTTCCTGGAGCACTCCGTCAGCCTGTACGGCAGTCCTCTTGTGCCCAGCACTGAGCCCGCCTTGGACTTCAGCCTCCGCTACTCCCCAGGCATGGATGCGTACCACTGTGTGAAGTGCAACAAGGTGGGCAGCGGGGGGTGTGGTGGGCACCTGGGCCCTCCTCTCCGCACTCCCTCTCAACTCACTGGCAGCTCTGGGCGTTCTCTGTGCTGTGAATGTTGGGGCTCTGGTGGGATTAAGGATTCAAAACGTTCATCCTCATCACCATTCATTGAGCTCTGACCACGTGCCTGGCCCTGTGCTAAGCAATTGACAGGCATGAGTGCCAGAGTCAGATGAAAGGTTAAGGTTCAGAGAGGTTAAGTCACTTTTCCAGGATCAGACAGCAAGTAGATATCAGAACCAGCATTCAAACCCAGCTTCGGCCAACTCCCAGCTCTTAACCACTGGGCTATTCAGCCTCTAGATGAGGCAAGGAGGGGCCTCCAGATCCCCTCTCTCACATCCAACTTTGTAGAAGGGAGACTGAGCCACAGAGAGGCAAACGGACCTCCCTGGGACACACAGCAAGCAAGCAGCAGAACTGGCAATCCAGTGCCCCTTACTCTGTGTACCCAGCCTTGGCCAGAGCTGGGCATGGAAGAGACCATGGGACCCCAGGCCTGTCCCTGTCACCGCAGCCCCCAGTGGCCTCACATGCTGCCCCTGCTCCCAGGTCTTCTCCACCCCTCACGGGCTCGAAGTGCATGTGCGACGCTCCCATAGTGGGACCCGGCCCTTCGCCTGTGACATCTGCGGCAAAACCTTCGGCCACGCTGTGAGCCTGGAGCAGCACACGCACGTCCACTCCCAGGTGGGCACCTGGCCCAGCGCAGGACTCCCAGCCCCACTCCTTCTCTGTGCTTCCCCAGGGAGCCTGGGGGCTGTGGCTGGGTCCCTCCCCCTGCCCCTGGGGGTGACACAGATTGGGAGGGGTCCCCTAGTACCCACCTCCCTGGGTCTGGGTCTCCAACACCTGCCCTTAACAAACTTCAGACTCTTAACTAAACCACCGTGCAGACCACAACCATCCCTGCCTCAAGGAACTCACTCTAGGTTAATGGTCATGAAATGTGAACCCCTAAAGAACCTCTGAGATCAGTCAGTCCATCAGTCAATCAACGAACATTTATTGAGGTTTATTTTGAGCGGGATACCGTGAAGATTACAAGGAAAAATCCCACAGGAGACCAATGAGACTCCAAGCCCCAGTTTCACCTCAGAGGCAGAGATGAGGGGTCCCCCGGTCCTGCTCCTCCAGGCCGCCCCAATGGAGTGTCCTGTTCCGCAGGGGATCCCGGCCGGGTCCAGTCCTGAGCCTGCACCTGACCCCCCGGGGCCTCATTTCCTCCGGCAGGAGCGCAGCTTCGAGTGCCGCATGTGCGGCAAGGCCTTCAAGCTCTCGTCCACGCTGTCCACCCACCTGCTCATCCACTCAGACACGCGGCCCTACCCCTGCCAGTTCTGCGGCAAGCGTTTCCACCAGAAGTCCGACATGAAGAAGCACACCTACATCCACACAGGTGAGTGAGTCTCACCTGCCTGTGCCCCCTGGGCAGAGCACCCCCACCTTTCCCTGAGAGATGCATCAGAGGCCCCCAGCGTGAGGCTGGGGGCGGGGTCTAGTTACAAAGTCAAAGGCCACTGCTGATGGAGGGCTGGGCACCTGTGCTACTTAAGTGCACTTAATGCATGGAAAAAAATACAGGGAGGAAACAGCAAAATCTCAACACTGTTGATCTCATGGCAGACATGAGACTAGCAGGCGAACTGCTCATTCATTTGTTCACTCATTCACTCACTCACTTGCTCATTCATTTGTTCACTCATTTGCTCATTTATTCACACATTCGCTCACTCATTTGCTCATTCATTTGTTCACTCATTCATTCATTTGCTCATTCATTTGTTCACTCATTCATTTGCTCATTCATTTGTTCAGTCATTCATTCATTTGTTCACTCATTTGCTCATTCATTTGTTCACTCATTCATTCATTTGTTCACTCATTTGCTCATTCATTTGTTCACTCATTCATTCATTTGTTGATTCATTTGTTCACTCATTCACTCATTTGCTCATTTATTCACACATTCGCTCACTCATTTGCTCATTCATTTGTTCACTCATTCATTTGCTTATTCATTCCTTCACTCATTCATTCACTTGCTTATTCATTGCCTCCTTGCTATTAGCTGAGTGCCTCTTTTGTGCCAGGTATACCAGGCTTGGAGATGTATTGATAAACAAGATGACTCGGCAGCTGCCCCTAACCACCCTATAATCCAGTAGGGGTGGAGGAGGGTCCAAGTTGTATCTTTGCTTCTCTCTCTTTTCTAATTATTTTCTAAAGTGAATGTGAGTTGGCCATGAGAGAAAACACAGGAAGGTATTGGAAAATGAACCCGGGGGCAGGGCAGGGGAGCAGCAGGCCTGGTGAGGAGGCCCTGACCCCGCCCTTGCTGTGCTGCGCTGCCCTCCCTGCAGGTGAGAAGCCGCACAAGTGCCAGGTGTGCGGAAAGGCCTTCAGCCAGAGCTCCAACCTCATCACCCACAGCCGCAAGCACACAGGCTTCAAGCCCTTCAGCTGTGAGCTGTGCACCAAAGGCTTCCAGCGCAAGGTGGACCTGCGGCGGCACCGCGAGAGCCAGCACAATCTCAAGTGAGGCTGCGCCGGCTCCCAGCTCCTGGCCAGCCTGCCCTGCGGTCCTGTCACCTGGAGGCCAGCCTCACATGCCCAAATCTCCAGTCTCCTGGAGGTGGGACTGGACAGGAGTCTACCAGCTTGTTTTGAGACTCATGAAATTGCTGTGTGACCTTGGGCAAGTCACTTACCCTGTCTGGATCAACATTTCTCCTGCTGCCAAGTGTGGGAGCCTGGCTGGGTCTTTCTCAGCAGAAGTTGTTTCCAGGTGTGCTCAAGTGCCTTCCTCTAGCAGAGCACAGAAAGCTAGAATACCCCCAGGGAGACAGGGATGCCAAGAGTAGACCAGAGCTGGGACCCACAGACAGAACCTCCACCTGCCTGCTGCCCACTGAGCTGGGACCTGGTCACCTTGGATTTTAGCCGGCCTCTTTCTGGCTATAACAGGCAGAGTCGGAGCTGCCTCCCACCCCAGTCAGAAGCCTGGCACCCCCTCTGCTTCGGCCAGATGTGCTGGCTGACTCCGACTTCCGACCAGCACTCAGCTGGCCTCTGGGGATTCTAGCTCCACAACCAGGCCGTGAGGCTGGAGAAACTGGCAGTTATTGCTGTCAAAAGCCTGTTCTCTCAACTGCTGTCAATAAAATTAAAGATACAGATTTGCTGCCATGTGACCAGCATTTATTAAGTGCCTATGAGGTCCAGGGTACTGCACGAGGCTTTGGGGAGTGATGCGGGGAGGCTTGAGGAGCAGAGAAAGCCATGGAGGTGCTCATAGGCAAGTTGTGGAGAAGTGTACTCAGC
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Task1_train_13417
|
This variant affects gene GFI1B (growth factor independent 1B transcriptional repressor) located on Chromosome 9. Evaluate its biological effect and specify any disease association.
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Pathogenic; Inborn genetic diseases
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TGCCCTGTGTTTATTTTATTTCATTTTATTTTTTGAGACAGTGTCTCACTCTGTTGCCCAGGCTGGAGTGCAGTGGCACGATCTCAACTCACTGCAACCTCTGCCTCCCAGGTTCAAGCAATTCTCCTGCCTCAGCCTCCCTAGTAGCTGGGATTATAGGCGTGAGCCACCACGCCTGGCTAATTTTTGTATTTTTTGGTAGAGACAGAGTTTCACCACGTTGGTCCGCCTGGTCTTGAACTCCCGACCTCAAGTGACCCACTTGCCTCAGCCTCCCAAAGTGCTGGAATTGCAGGCATGAGCCACGCCACTGTGCCCAACCCCCTGTGTTTAAATGAGTAACCAGGCCTGTGTCGTTATCTCCACAGAGGGCCCCATTGTGCTGTCCCGACCCCAGGATGGGGACTCTCCACTGTCCGACTCACCCCCATTCTACAAGCCTAGCTTCTCCTGGGACACCTTGGCCACAACCTATGGCCACAGCTACCGGCAGGCCCCCTCCACCATGCAGTCAGCCTTCCTGGAGCACTCCGTCAGCCTGTACGGCAGTCCTCTTGTGCCCAGCACTGAGCCCGCCTTGGACTTCAGCCTCCGCTACTCCCCAGGCATGGATGCGTACCACTGTGTGAAGTGCAACAAGGTGGGCAGCGGGGGGTGTGGTGGGCACCTGGGCCCTCCTCTCCGCACTCCCTCTCAACTCACTGGCAGCTCTGGGCGTTCTCTGTGCTGTGAATGTTGGGGCTCTGGTGGGATTAAGGATTCAAAACGTTCATCCTCATCACCATTCATTGAGCTCTGACCACGTGCCTGGCCCTGTGCTAAGCAATTGACAGGCATGAGTGCCAGAGTCAGATGAAAGGTTAAGGTTCAGAGAGGTTAAGTCACTTTTCCAGGATCAGACAGCAAGTAGATATCAGAACCAGCATTCAAACCCAGCTTCGGCCAACTCCCAGCTCTTAACCACTGGGCTATTCAGCCTCTAGATGAGGCAAGGAGGGGCCTCCAGATCCCCTCTCTCACATCCAACTTTGTAGAAGGGAGACTGAGCCACAGAGAGGCAAACGGACCTCCCTGGGACACACAGCAAGCAAGCAGCAGAACTGGCAATCCAGTGCCCCTTACTCTGTGTACCCAGCCTTGGCCAGAGCTGGGCATGGAAGAGACCATGGGACCCCAGGCCTGTCCCTGTCACCGCAGCCCCCAGTGGCCTCACATGCTGCCCCTGCTCCCAGGTCTTCTCCACCCCTCACGGGCTCGAAGTGCATGTGCGACGCTCCCATAGTGGGACCCGGCCCTTCGCCTGTGACATCTGCGGCAAAACCTTCGGCCACGCTGTGAGCCTGGAGCAGCACACGCACGTCCACTCCCAGGTGGGCACCTGGCCCAGCGCAGGACTCCCAGCCCCACTCCTTCTCTGTGCTTCCCCAGGGAGCCTGGGGGCTGTGGCTGGGTCCCTCCCCCTGCCCCTGGGGGTGACACAGATTGGGAGGGGTCCCCTAGTACCCACCTCCCTGGGTCTGGGTCTCCAACACCTGCCCTTAACAAACTTCAGACTCTTAACTAAACCACCGTGCAGACCACAACCATCCCTGCCTCAAGGAACTCACTCTAGGTTAATGGTCATGAAATGTGAACCCCTAAAGAACCTCTGAGATCAGTCAGTCCATCAGTCAATCAACGAACATTTATTGAGGTTTATTTTGAGCGGGATACCGTGAAGATTACAAGGAAAAATCCCACAGGAGACCAATGAGACTCCAAGCCCCAGTTTCACCTCAGAGGCAGAGATGAGGGGTCCCCCGGTCCTGCTCCTCCAGGCCGCCCCAATGGAGTGTCCTGTTCCGCAGGGGATCCCGGCCGGGTCCAGTCCTGAGCCTGCACCTGACCCCCCGGGGCCTCATTTCCTCCGGCAGGAGCGCAGCTTCGAGTGCCGCATGTGCGGCAAGGCCTTCAAGCGCTCGTCCACGCTGTCCACCCACCTGCTCATCCACTCAGACACGCGGCCCTACCCCTGCCAGTTCTGCGGCAAGCGTTTCCACCAGAAGTCCGACATGAAGAAGCACACCTACATCCACACAGGTGAGTGAGTCTCACCTGCCTGTGCCCCCTGGGCAGAGCACCCCCACCTTTCCCTGAGAGATGCATCAGAGGCCCCCAGCGTGAGGCTGGGGGCGGGGTCTAGTTACAAAGTCAAAGGCCACTGCTGATGGAGGGCTGGGCACCTGTGCTACTTAAGTGCACTTAATGCATGGAAAAAAATACAGGGAGGAAACAGCAAAATCTCAACACTGTTGATCTCATGGCAGACATGAGACTAGCAGGCGAACTGCTCATTCATTTGTTCACTCATTCACTCACTCACTTGCTCATTCATTTGTTCACTCATTTGCTCATTTATTCACACATTCGCTCACTCATTTGCTCATTCATTTGTTCACTCATTCATTCATTTGCTCATTCATTTGTTCACTCATTCATTTGCTCATTCATTTGTTCAGTCATTCATTCATTTGTTCACTCATTTGCTCATTCATTTGTTCACTCATTCATTCATTTGTTCACTCATTTGCTCATTCATTTGTTCACTCATTCATTCATTTGTTGATTCATTTGTTCACTCATTCACTCATTTGCTCATTTATTCACACATTCGCTCACTCATTTGCTCATTCATTTGTTCACTCATTCATTTGCTTATTCATTCCTTCACTCATTCATTCACTTGCTTATTCATTGCCTCCTTGCTATTAGCTGAGTGCCTCTTTTGTGCCAGGTATACCAGGCTTGGAGATGTATTGATAAACAAGATGACTCGGCAGCTGCCCCTAACCACCCTATAATCCAGTAGGGGTGGAGGAGGGTCCAAGTTGTATCTTTGCTTCTCTCTCTTTTCTAATTATTTTCTAAAGTGAATGTGAGTTGGCCATGAGAGAAAACACAGGAAGGTATTGGAAAATGAACCCGGGGGCAGGGCAGGGGAGCAGCAGGCCTGGTGAGGAGGCCCTGACCCCGCCCTTGCTGTGCTGCGCTGCCCTCCCTGCAGGTGAGAAGCCGCACAAGTGCCAGGTGTGCGGAAAGGCCTTCAGCCAGAGCTCCAACCTCATCACCCACAGCCGCAAGCACACAGGCTTCAAGCCCTTCAGCTGTGAGCTGTGCACCAAAGGCTTCCAGCGCAAGGTGGACCTGCGGCGGCACCGCGAGAGCCAGCACAATCTCAAGTGAGGCTGCGCCGGCTCCCAGCTCCTGGCCAGCCTGCCCTGCGGTCCTGTCACCTGGAGGCCAGCCTCACATGCCCAAATCTCCAGTCTCCTGGAGGTGGGACTGGACAGGAGTCTACCAGCTTGTTTTGAGACTCATGAAATTGCTGTGTGACCTTGGGCAAGTCACTTACCCTGTCTGGATCAACATTTCTCCTGCTGCCAAGTGTGGGAGCCTGGCTGGGTCTTTCTCAGCAGAAGTTGTTTCCAGGTGTGCTCAAGTGCCTTCCTCTAGCAGAGCACAGAAAGCTAGAATACCCCCAGGGAGACAGGGATGCCAAGAGTAGACCAGAGCTGGGACCCACAGACAGAACCTCCACCTGCCTGCTGCCCACTGAGCTGGGACCTGGTCACCTTGGATTTTAGCCGGCCTCTTTCTGGCTATAACAGGCAGAGTCGGAGCTGCCTCCCACCCCAGTCAGAAGCCTGGCACCCCCTCTGCTTCGGCCAGATGTGCTGGCTGACTCCGACTTCCGACCAGCACTCAGCTGGCCTCTGGGGATTCTAGCTCCACAACCAGGCCGTGAGGCTGGAGAAACTGGCAGTTATTGCTGTCAAAAGCCTGTTCTCTCAACTGCTGTCAATAAAATTAAAGATACAGATTTGCTGCCATGTGACCAGCATTTATTAAGTGCCTATGAGGTCCAGGGTACTGCACGAGGCTTTGGGGAGTGATGCGGGGAGGCTTGAGGAGCAGAGAAAGCCATGGAGGTGCTCATAGGCAAGTTGTGGAGAAGTGTACTCAGCCCCCACGTGCACAGACCCGCTGACGAGCCAGGAGCAAGCAGAAGGGGCCCGTGCGACAAGACCACAGGGGTGGGCAAGGCTAGTGCAGCTGG
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TGCCCTGTGTTTATTTTATTTCATTTTATTTTTTGAGACAGTGTCTCACTCTGTTGCCCAGGCTGGAGTGCAGTGGCACGATCTCAACTCACTGCAACCTCTGCCTCCCAGGTTCAAGCAATTCTCCTGCCTCAGCCTCCCTAGTAGCTGGGATTATAGGCGTGAGCCACCACGCCTGGCTAATTTTTGTATTTTTTGGTAGAGACAGAGTTTCACCACGTTGGTCCGCCTGGTCTTGAACTCCCGACCTCAAGTGACCCACTTGCCTCAGCCTCCCAAAGTGCTGGAATTGCAGGCATGAGCCACGCCACTGTGCCCAACCCCCTGTGTTTAAATGAGTAACCAGGCCTGTGTCGTTATCTCCACAGAGGGCCCCATTGTGCTGTCCCGACCCCAGGATGGGGACTCTCCACTGTCCGACTCACCCCCATTCTACAAGCCTAGCTTCTCCTGGGACACCTTGGCCACAACCTATGGCCACAGCTACCGGCAGGCCCCCTCCACCATGCAGTCAGCCTTCCTGGAGCACTCCGTCAGCCTGTACGGCAGTCCTCTTGTGCCCAGCACTGAGCCCGCCTTGGACTTCAGCCTCCGCTACTCCCCAGGCATGGATGCGTACCACTGTGTGAAGTGCAACAAGGTGGGCAGCGGGGGGTGTGGTGGGCACCTGGGCCCTCCTCTCCGCACTCCCTCTCAACTCACTGGCAGCTCTGGGCGTTCTCTGTGCTGTGAATGTTGGGGCTCTGGTGGGATTAAGGATTCAAAACGTTCATCCTCATCACCATTCATTGAGCTCTGACCACGTGCCTGGCCCTGTGCTAAGCAATTGACAGGCATGAGTGCCAGAGTCAGATGAAAGGTTAAGGTTCAGAGAGGTTAAGTCACTTTTCCAGGATCAGACAGCAAGTAGATATCAGAACCAGCATTCAAACCCAGCTTCGGCCAACTCCCAGCTCTTAACCACTGGGCTATTCAGCCTCTAGATGAGGCAAGGAGGGGCCTCCAGATCCCCTCTCTCACATCCAACTTTGTAGAAGGGAGACTGAGCCACAGAGAGGCAAACGGACCTCCCTGGGACACACAGCAAGCAAGCAGCAGAACTGGCAATCCAGTGCCCCTTACTCTGTGTACCCAGCCTTGGCCAGAGCTGGGCATGGAAGAGACCATGGGACCCCAGGCCTGTCCCTGTCACCGCAGCCCCCAGTGGCCTCACATGCTGCCCCTGCTCCCAGGTCTTCTCCACCCCTCACGGGCTCGAAGTGCATGTGCGACGCTCCCATAGTGGGACCCGGCCCTTCGCCTGTGACATCTGCGGCAAAACCTTCGGCCACGCTGTGAGCCTGGAGCAGCACACGCACGTCCACTCCCAGGTGGGCACCTGGCCCAGCGCAGGACTCCCAGCCCCACTCCTTCTCTGTGCTTCCCCAGGGAGCCTGGGGGCTGTGGCTGGGTCCCTCCCCCTGCCCCTGGGGGTGACACAGATTGGGAGGGGTCCCCTAGTACCCACCTCCCTGGGTCTGGGTCTCCAACACCTGCCCTTAACAAACTTCAGACTCTTAACTAAACCACCGTGCAGACCACAACCATCCCTGCCTCAAGGAACTCACTCTAGGTTAATGGTCATGAAATGTGAACCCCTAAAGAACCTCTGAGATCAGTCAGTCCATCAGTCAATCAACGAACATTTATTGAGGTTTATTTTGAGCGGGATACCGTGAAGATTACAAGGAAAAATCCCACAGGAGACCAATGAGACTCCAAGCCCCAGTTTCACCTCAGAGGCAGAGATGAGGGGTCCCCCGGTCCTGCTCCTCCAGGCCGCCCCAATGGAGTGTCCTGTTCCGCAGGGGATCCCGGCCGGGTCCAGTCCTGAGCCTGCACCTGACCCCCCGGGGCCTCATTTCCTCCGGCAGGAGCGCAGCTTCGAGTGCCGCATGTGCGGCAAGGCCTTCAAGCGCTCGTCCACGCTGTCCACCCACCTGCTCATCCACTCAGACACGCGGCCCTACCCCTGCCAGTTCTGCGGCAAGCGTTTCCACCAGAAGTCCAACATGAAGAAGCACACCTACATCCACACAGGTGAGTGAGTCTCACCTGCCTGTGCCCCCTGGGCAGAGCACCCCCACCTTTCCCTGAGAGATGCATCAGAGGCCCCCAGCGTGAGGCTGGGGGCGGGGTCTAGTTACAAAGTCAAAGGCCACTGCTGATGGAGGGCTGGGCACCTGTGCTACTTAAGTGCACTTAATGCATGGAAAAAAATACAGGGAGGAAACAGCAAAATCTCAACACTGTTGATCTCATGGCAGACATGAGACTAGCAGGCGAACTGCTCATTCATTTGTTCACTCATTCACTCACTCACTTGCTCATTCATTTGTTCACTCATTTGCTCATTTATTCACACATTCGCTCACTCATTTGCTCATTCATTTGTTCACTCATTCATTCATTTGCTCATTCATTTGTTCACTCATTCATTTGCTCATTCATTTGTTCAGTCATTCATTCATTTGTTCACTCATTTGCTCATTCATTTGTTCACTCATTCATTCATTTGTTCACTCATTTGCTCATTCATTTGTTCACTCATTCATTCATTTGTTGATTCATTTGTTCACTCATTCACTCATTTGCTCATTTATTCACACATTCGCTCACTCATTTGCTCATTCATTTGTTCACTCATTCATTTGCTTATTCATTCCTTCACTCATTCATTCACTTGCTTATTCATTGCCTCCTTGCTATTAGCTGAGTGCCTCTTTTGTGCCAGGTATACCAGGCTTGGAGATGTATTGATAAACAAGATGACTCGGCAGCTGCCCCTAACCACCCTATAATCCAGTAGGGGTGGAGGAGGGTCCAAGTTGTATCTTTGCTTCTCTCTCTTTTCTAATTATTTTCTAAAGTGAATGTGAGTTGGCCATGAGAGAAAACACAGGAAGGTATTGGAAAATGAACCCGGGGGCAGGGCAGGGGAGCAGCAGGCCTGGTGAGGAGGCCCTGACCCCGCCCTTGCTGTGCTGCGCTGCCCTCCCTGCAGGTGAGAAGCCGCACAAGTGCCAGGTGTGCGGAAAGGCCTTCAGCCAGAGCTCCAACCTCATCACCCACAGCCGCAAGCACACAGGCTTCAAGCCCTTCAGCTGTGAGCTGTGCACCAAAGGCTTCCAGCGCAAGGTGGACCTGCGGCGGCACCGCGAGAGCCAGCACAATCTCAAGTGAGGCTGCGCCGGCTCCCAGCTCCTGGCCAGCCTGCCCTGCGGTCCTGTCACCTGGAGGCCAGCCTCACATGCCCAAATCTCCAGTCTCCTGGAGGTGGGACTGGACAGGAGTCTACCAGCTTGTTTTGAGACTCATGAAATTGCTGTGTGACCTTGGGCAAGTCACTTACCCTGTCTGGATCAACATTTCTCCTGCTGCCAAGTGTGGGAGCCTGGCTGGGTCTTTCTCAGCAGAAGTTGTTTCCAGGTGTGCTCAAGTGCCTTCCTCTAGCAGAGCACAGAAAGCTAGAATACCCCCAGGGAGACAGGGATGCCAAGAGTAGACCAGAGCTGGGACCCACAGACAGAACCTCCACCTGCCTGCTGCCCACTGAGCTGGGACCTGGTCACCTTGGATTTTAGCCGGCCTCTTTCTGGCTATAACAGGCAGAGTCGGAGCTGCCTCCCACCCCAGTCAGAAGCCTGGCACCCCCTCTGCTTCGGCCAGATGTGCTGGCTGACTCCGACTTCCGACCAGCACTCAGCTGGCCTCTGGGGATTCTAGCTCCACAACCAGGCCGTGAGGCTGGAGAAACTGGCAGTTATTGCTGTCAAAAGCCTGTTCTCTCAACTGCTGTCAATAAAATTAAAGATACAGATTTGCTGCCATGTGACCAGCATTTATTAAGTGCCTATGAGGTCCAGGGTACTGCACGAGGCTTTGGGGAGTGATGCGGGGAGGCTTGAGGAGCAGAGAAAGCCATGGAGGTGCTCATAGGCAAGTTGTGGAGAAGTGTACTCAGCCCCCACGTGCACAGACCCGCTGACGAGCCAGGAGCAAGCAGAAGGGGCCCGTGCGACAAGACCACAGGGGTGGGCAAGGCTAGTGCAGCTGG
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Task1_train_13418
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A genomic change on Chromosome 9 affects GFI1B (growth factor independent 1B transcriptional repressor). Classify this variant as benign or pathogenic, and name the disease if relevant.
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Pathogenic; not provided
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GCAATCCAGTGCCCCTTACTCTGTGTACCCAGCCTTGGCCAGAGCTGGGCATGGAAGAGACCATGGGACCCCAGGCCTGTCCCTGTCACCGCAGCCCCCAGTGGCCTCACATGCTGCCCCTGCTCCCAGGTCTTCTCCACCCCTCACGGGCTCGAAGTGCATGTGCGACGCTCCCATAGTGGGACCCGGCCCTTCGCCTGTGACATCTGCGGCAAAACCTTCGGCCACGCTGTGAGCCTGGAGCAGCACACGCACGTCCACTCCCAGGTGGGCACCTGGCCCAGCGCAGGACTCCCAGCCCCACTCCTTCTCTGTGCTTCCCCAGGGAGCCTGGGGGCTGTGGCTGGGTCCCTCCCCCTGCCCCTGGGGGTGACACAGATTGGGAGGGGTCCCCTAGTACCCACCTCCCTGGGTCTGGGTCTCCAACACCTGCCCTTAACAAACTTCAGACTCTTAACTAAACCACCGTGCAGACCACAACCATCCCTGCCTCAAGGAACTCACTCTAGGTTAATGGTCATGAAATGTGAACCCCTAAAGAACCTCTGAGATCAGTCAGTCCATCAGTCAATCAACGAACATTTATTGAGGTTTATTTTGAGCGGGATACCGTGAAGATTACAAGGAAAAATCCCACAGGAGACCAATGAGACTCCAAGCCCCAGTTTCACCTCAGAGGCAGAGATGAGGGGTCCCCCGGTCCTGCTCCTCCAGGCCGCCCCAATGGAGTGTCCTGTTCCGCAGGGGATCCCGGCCGGGTCCAGTCCTGAGCCTGCACCTGACCCCCCGGGGCCTCATTTCCTCCGGCAGGAGCGCAGCTTCGAGTGCCGCATGTGCGGCAAGGCCTTCAAGCGCTCGTCCACGCTGTCCACCCACCTGCTCATCCACTCAGACACGCGGCCCTACCCCTGCCAGTTCTGCGGCAAGCGTTTCCACCAGAAGTCCGACATGAAGAAGCACACCTACATCCACACAGGTGAGTGAGTCTCACCTGCCTGTGCCCCCTGGGCAGAGCACCCCCACCTTTCCCTGAGAGATGCATCAGAGGCCCCCAGCGTGAGGCTGGGGGCGGGGTCTAGTTACAAAGTCAAAGGCCACTGCTGATGGAGGGCTGGGCACCTGTGCTACTTAAGTGCACTTAATGCATGGAAAAAAATACAGGGAGGAAACAGCAAAATCTCAACACTGTTGATCTCATGGCAGACATGAGACTAGCAGGCGAACTGCTCATTCATTTGTTCACTCATTCACTCACTCACTTGCTCATTCATTTGTTCACTCATTTGCTCATTTATTCACACATTCGCTCACTCATTTGCTCATTCATTTGTTCACTCATTCATTCATTTGCTCATTCATTTGTTCACTCATTCATTTGCTCATTCATTTGTTCAGTCATTCATTCATTTGTTCACTCATTTGCTCATTCATTTGTTCACTCATTCATTCATTTGTTCACTCATTTGCTCATTCATTTGTTCACTCATTCATTCATTTGTTGATTCATTTGTTCACTCATTCACTCATTTGCTCATTTATTCACACATTCGCTCACTCATTTGCTCATTCATTTGTTCACTCATTCATTTGCTTATTCATTCCTTCACTCATTCATTCACTTGCTTATTCATTGCCTCCTTGCTATTAGCTGAGTGCCTCTTTTGTGCCAGGTATACCAGGCTTGGAGATGTATTGATAAACAAGATGACTCGGCAGCTGCCCCTAACCACCCTATAATCCAGTAGGGGTGGAGGAGGGTCCAAGTTGTATCTTTGCTTCTCTCTCTTTTCTAATTATTTTCTAAAGTGAATGTGAGTTGGCCATGAGAGAAAACACAGGAAGGTATTGGAAAATGAACCCGGGGGCAGGGCAGGGGAGCAGCAGGCCTGGTGAGGAGGCCCTGACCCCGCCCTTGCTGTGCTGCGCTGCCCTCCCTGCAGGTGAGAAGCCGCACAAGTGCCAGGTGTGCGGAAAGGCCTTCAGCCAGAGCTCCAACCTCATCACCCACAGCCGCAAGCACACAGGCTTCAAGCCCTTCAGCTGTGAGCTGTGCACCAAAGGCTTCCAGCGCAAGGTGGACCTGCGGCGGCACCGCGAGAGCCAGCACAATCTCAAGTGAGGCTGCGCCGGCTCCCAGCTCCTGGCCAGCCTGCCCTGCGGTCCTGTCACCTGGAGGCCAGCCTCACATGCCCAAATCTCCAGTCTCCTGGAGGTGGGACTGGACAGGAGTCTACCAGCTTGTTTTGAGACTCATGAAATTGCTGTGTGACCTTGGGCAAGTCACTTACCCTGTCTGGATCAACATTTCTCCTGCTGCCAAGTGTGGGAGCCTGGCTGGGTCTTTCTCAGCAGAAGTTGTTTCCAGGTGTGCTCAAGTGCCTTCCTCTAGCAGAGCACAGAAAGCTAGAATACCCCCAGGGAGACAGGGATGCCAAGAGTAGACCAGAGCTGGGACCCACAGACAGAACCTCCACCTGCCTGCTGCCCACTGAGCTGGGACCTGGTCACCTTGGATTTTAGCCGGCCTCTTTCTGGCTATAACAGGCAGAGTCGGAGCTGCCTCCCACCCCAGTCAGAAGCCTGGCACCCCCTCTGCTTCGGCCAGATGTGCTGGCTGACTCCGACTTCCGACCAGCACTCAGCTGGCCTCTGGGGATTCTAGCTCCACAACCAGGCCGTGAGGCTGGAGAAACTGGCAGTTATTGCTGTCAAAAGCCTGTTCTCTCAACTGCTGTCAATAAAATTAAAGATACAGATTTGCTGCCATGTGACCAGCATTTATTAAGTGCCTATGAGGTCCAGGGTACTGCACGAGGCTTTGGGGAGTGATGCGGGGAGGCTTGAGGAGCAGAGAAAGCCATGGAGGTGCTCATAGGCAAGTTGTGGAGAAGTGTACTCAGCCCCCACGTGCACAGACCCGCTGACGAGCCAGGAGCAAGCAGAAGGGGCCCGTGCGACAAGACCACAGGGGTGGGCAAGGCTAGTGCAGCTGGGGCGGTATCCGTTTCCTGTGGCTGCTGTGACAAATGACCACAAACTTAGTGGCTTAAAACAACACACATTTATTCTCTTAAATTCTAGAGGCCAGAAACTCAAAATGAGTCTCATGGGGCTAACATCAAGGTGTTAGCAGGACTGCATTCCTGCAGCAGGCTCCCAGGAGAGTCTGTTTTCCTGTCTCTCACCTTCCCAAGGCCGTCTGTGCCTCTGATCTTGGCCCCTTCCTCTGCCTTCAAAGCACATAACTTGGATCTCTGCTTCTGCCTCCATCTCTGTCTTCTGCTTTCAACCTTCTTGCCTCTCTCTTATAAAGACCCTTCTGATTACACTGAGCTCAGGTATAAATCATCCCATCTCAAGATCCTGAACGTAATCACCGTGATTGGCTGAATAATGGCCCCAAAGATGATATCCACATCCTAACCCTGGAACCTATGAGTGTGACGCTATAGGGTAAAAGGGACTTTGCAGGTGTGATGAAGCTGAGCCTGGTGCCACACCTGTCTAGCTGTGTGACTTCAGGTGAGTTCCTGAACCTCTCTGGGGCTCAGCTTCCTCCTCTGTAAAATGGTAAACACAGCAGTCCCTTCCACCGATTCGCTGAGACCATTCTTACAAAGTGGCATACAGGTCCAGCCCAGCACGTAGTAAGTGCTGCCGAGTTGTGAACATTCCTTTTTGAAGTCCTGTCCATCCTACAAGGCCCACTTAGCCATCTCCTCCATGAAGCCTCCCTGGGTCATCCAGCCAGAAGGTCTTCTCTCTCCTCTGATACCGAGCAACTCAGTCTCTTTGCTTACAGCTTAGGAGCCATTGAATGTGGAATGCAGTTATGTGTGGATAACTTCAGGAGGTCTTCTGTCTGAGCTCCAGCCGCACCCCACCCCCCATCCCACACCAATCCTGTGCCTGGCCCACAGCCATGGACACCTCTGAATGAACTTGCAGGTACTGAGCTAAGCCAAGGGTTTCCATACATTGTCTCTAACCCACACAACCTTCTGCAATGGAATGCCATTCTCCCATTTTACAGATGGGGCAACTGAGGCCCAGAGAGGTCAAACATAAAAAAAAAACACAGATATGGGCCAGGCGC
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GCAATCCAGTGCCCCTTACTCTGTGTACCCAGCCTTGGCCAGAGCTGGGCATGGAAGAGACCATGGGACCCCAGGCCTGTCCCTGTCACCGCAGCCCCCAGTGGCCTCACATGCTGCCCCTGCTCCCAGGTCTTCTCCACCCCTCACGGGCTCGAAGTGCATGTGCGACGCTCCCATAGTGGGACCCGGCCCTTCGCCTGTGACATCTGCGGCAAAACCTTCGGCCACGCTGTGAGCCTGGAGCAGCACACGCACGTCCACTCCCAGGTGGGCACCTGGCCCAGCGCAGGACTCCCAGCCCCACTCCTTCTCTGTGCTTCCCCAGGGAGCCTGGGGGCTGTGGCTGGGTCCCTCCCCCTGCCCCTGGGGGTGACACAGATTGGGAGGGGTCCCCTAGTACCCACCTCCCTGGGTCTGGGTCTCCAACACCTGCCCTTAACAAACTTCAGACTCTTAACTAAACCACCGTGCAGACCACAACCATCCCTGCCTCAAGGAACTCACTCTAGGTTAATGGTCATGAAATGTGAACCCCTAAAGAACCTCTGAGATCAGTCAGTCCATCAGTCAATCAACGAACATTTATTGAGGTTTATTTTGAGCGGGATACCGTGAAGATTACAAGGAAAAATCCCACAGGAGACCAATGAGACTCCAAGCCCCAGTTTCACCTCAGAGGCAGAGATGAGGGGTCCCCCGGTCCTGCTCCTCCAGGCCGCCCCAATGGAGTGTCCTGTTCCGCAGGGGATCCCGGCCGGGTCCAGTCCTGAGCCTGCACCTGACCCCCCGGGGCCTCATTTCCTCCGGCAGGAGCGCAGCTTCGAGTGCCGCATGTGCGGCAAGGCCTTCAAGCGCTCGTCCACGCTGTCCACCCACCTGCTCATCCACTCAGACACGCGGCCCTACCCCTGCCAGTTCTGCGGCAAGCGTTTCCACCAGAAGTCCGACATGAAGAAGCACACCTACATCCACACAGGTGAGTGAGTCTCACCTGCCTGTGCCCCCTGGGCAGAGCACCCCCACCTTTCCCTGAGAGATGCATCAGAGGCCCCCAGCGTGAGGCTGGGGGCGGGGTCTAGTTACAAAGTCAAAGGCCACTGCTGATGGAGGGCTGGGCACCTGTGCTACTTAAGTGCACTTAATGCATGGAAAAAAATACAGGGAGGAAACAGCAAAATCTCAACACTGTTGATCTCATGGCAGACATGAGACTAGCAGGCGAACTGCTCATTCATTTGTTCACTCATTCACTCACTCACTTGCTCATTCATTTGTTCACTCATTTGCTCATTTATTCACACATTCGCTCACTCATTTGCTCATTCATTTGTTCACTCATTCATTCATTTGCTCATTCATTTGTTCACTCATTCATTTGCTCATTCATTTGTTCAGTCATTCATTCATTTGTTCACTCATTTGCTCATTCATTTGTTCACTCATTCATTCATTTGTTCACTCATTTGCTCATTCATTTGTTCACTCATTCATTCATTTGTTGATTCATTTGTTCACTCATTCACTCATTTGCTCATTTATTCACACATTCGCTCACTCATTTGCTCATTCATTTGTTCACTCATTCATTTGCTTATTCATTCCTTCACTCATTCATTCACTTGCTTATTCATTGCCTCCTTGCTATTAGCTGAGTGCCTCTTTTGTGCCAGGTATACCAGGCTTGGAGATGTATTGATAAACAAGATGACTCGGCAGCTGCCCCTAACCACCCTATAATCCAGTAGGGGTGGAGGAGGGTCCAAGTTGTATCTTTGCTTCTCTCTCTTTTCTAATTATTTTCTAAAGTGAATGTGAGTTGGCCATGAGAGAAAACACAGGAAGGTATTGGAAAATGAACCCGGGGGCAGGGCAGGGGAGCAGCAGGCCTGGTGAGGAGGCCCTGACCCCGCCCTTGCTGTGCTGCGCTGCCCTCCCTGCAGGTGAGAAGCCGCACAAGTGCCAGGTGTGCGGAAAGGCCTTCAGCCAGAGCTCCAACCTCATCACCCACAGCCGCAAGCACACAGGCTTCAAGCCCTTCAGCTGTGAGCCGTGCACCAAAGGCTTCCAGCGCAAGGTGGACCTGCGGCGGCACCGCGAGAGCCAGCACAATCTCAAGTGAGGCTGCGCCGGCTCCCAGCTCCTGGCCAGCCTGCCCTGCGGTCCTGTCACCTGGAGGCCAGCCTCACATGCCCAAATCTCCAGTCTCCTGGAGGTGGGACTGGACAGGAGTCTACCAGCTTGTTTTGAGACTCATGAAATTGCTGTGTGACCTTGGGCAAGTCACTTACCCTGTCTGGATCAACATTTCTCCTGCTGCCAAGTGTGGGAGCCTGGCTGGGTCTTTCTCAGCAGAAGTTGTTTCCAGGTGTGCTCAAGTGCCTTCCTCTAGCAGAGCACAGAAAGCTAGAATACCCCCAGGGAGACAGGGATGCCAAGAGTAGACCAGAGCTGGGACCCACAGACAGAACCTCCACCTGCCTGCTGCCCACTGAGCTGGGACCTGGTCACCTTGGATTTTAGCCGGCCTCTTTCTGGCTATAACAGGCAGAGTCGGAGCTGCCTCCCACCCCAGTCAGAAGCCTGGCACCCCCTCTGCTTCGGCCAGATGTGCTGGCTGACTCCGACTTCCGACCAGCACTCAGCTGGCCTCTGGGGATTCTAGCTCCACAACCAGGCCGTGAGGCTGGAGAAACTGGCAGTTATTGCTGTCAAAAGCCTGTTCTCTCAACTGCTGTCAATAAAATTAAAGATACAGATTTGCTGCCATGTGACCAGCATTTATTAAGTGCCTATGAGGTCCAGGGTACTGCACGAGGCTTTGGGGAGTGATGCGGGGAGGCTTGAGGAGCAGAGAAAGCCATGGAGGTGCTCATAGGCAAGTTGTGGAGAAGTGTACTCAGCCCCCACGTGCACAGACCCGCTGACGAGCCAGGAGCAAGCAGAAGGGGCCCGTGCGACAAGACCACAGGGGTGGGCAAGGCTAGTGCAGCTGGGGCGGTATCCGTTTCCTGTGGCTGCTGTGACAAATGACCACAAACTTAGTGGCTTAAAACAACACACATTTATTCTCTTAAATTCTAGAGGCCAGAAACTCAAAATGAGTCTCATGGGGCTAACATCAAGGTGTTAGCAGGACTGCATTCCTGCAGCAGGCTCCCAGGAGAGTCTGTTTTCCTGTCTCTCACCTTCCCAAGGCCGTCTGTGCCTCTGATCTTGGCCCCTTCCTCTGCCTTCAAAGCACATAACTTGGATCTCTGCTTCTGCCTCCATCTCTGTCTTCTGCTTTCAACCTTCTTGCCTCTCTCTTATAAAGACCCTTCTGATTACACTGAGCTCAGGTATAAATCATCCCATCTCAAGATCCTGAACGTAATCACCGTGATTGGCTGAATAATGGCCCCAAAGATGATATCCACATCCTAACCCTGGAACCTATGAGTGTGACGCTATAGGGTAAAAGGGACTTTGCAGGTGTGATGAAGCTGAGCCTGGTGCCACACCTGTCTAGCTGTGTGACTTCAGGTGAGTTCCTGAACCTCTCTGGGGCTCAGCTTCCTCCTCTGTAAAATGGTAAACACAGCAGTCCCTTCCACCGATTCGCTGAGACCATTCTTACAAAGTGGCATACAGGTCCAGCCCAGCACGTAGTAAGTGCTGCCGAGTTGTGAACATTCCTTTTTGAAGTCCTGTCCATCCTACAAGGCCCACTTAGCCATCTCCTCCATGAAGCCTCCCTGGGTCATCCAGCCAGAAGGTCTTCTCTCTCCTCTGATACCGAGCAACTCAGTCTCTTTGCTTACAGCTTAGGAGCCATTGAATGTGGAATGCAGTTATGTGTGGATAACTTCAGGAGGTCTTCTGTCTGAGCTCCAGCCGCACCCCACCCCCCATCCCACACCAATCCTGTGCCTGGCCCACAGCCATGGACACCTCTGAATGAACTTGCAGGTACTGAGCTAAGCCAAGGGTTTCCATACATTGTCTCTAACCCACACAACCTTCTGCAATGGAATGCCATTCTCCCATTTTACAGATGGGGCAACTGAGGCCCAGAGAGGTCAAACATAAAAAAAAAACACAGATATGGGCCAGGCGC
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Task1_train_13419
|
Consider this mutation in SURF1 (SURF1 cytochrome c oxidase assembly factor) on Chromosome 9. Is this a benign change or a disease-causing variant?
|
Pathogenic; Leigh syndrome
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ACGAAGAGACCACCTGTCCTTCGAGCAGGTGAGTAGGCCCCACCTTAGGGTGAACACTGGGGGCGGGCTGTTGCAGTGATGTAAAATTTCTTGGCCTGAAATTACTGTGAAGAGTAAAACCGAGCTTTTTAACACTGAGTCAGCAGCTGAGCCCAGCAGCTTCTTGTGACTAGAGCAGGCCCTGTGAGTGCTCACAAAGTGGTTGTGTGTTCTAGGAGTTAACACCGTCACCACCTTGGTGGAGAACAAGAAAGCTCAGCTGGTGGTGATTGCACACGACGTGGATCCCATCGAGGTGCGTTTGCCTGTTGACTGCTAACCCAAGGGCTTCTGGCAGTACCAGGAAGAGAGAGTAGACCTAATGCCAAGTCAGTGATGGGACCGAAGTGGGTGAGGGCAGTACTGACACAGATCCAACACATGCGTGGCTCTTGCAATGATGTGAATCTCTCACTGAATTCAACCTTGAAGTGCGAATCCATGAGCTTTTTAACCCTGAGCAATTGTTACAAGCTAACTGAAATTTGCTGCTTTTGGTCAAAATACAGTCTTCAGCTAATGCTTTCTTCCAGCTGGTTGTCTTCTTGCCTGCCCTGTGTCGTAAAATGGGGGTCCCTTACTGCATTATCAAGGGAAAGGCAAGACTGGGACGTCTAGTCCACAGGAAGACCTGCACCACTGTCGCCTTCACACAGGTGAACTCGTAAGTACACAGCCTGGCCCCAAACTTCCCCCCAGTTCATTTAATCCATGCCTCACAGTTGTTTCCTTTTGCCTTAAAGGCCAATCTTTTAGTTTAAGAAATATATTTATCTGAACTTTTGCCAATGATGGTTAAGAATTTCTTCACCTGAATAAACCATGTGGTCAGCATTGCATCTGAGGCAAAAGACTGTCTTGAGCTAAAAGGTATTTTTGCATTCTAAAAGGGAAACTAAGGCAAAAAACCCACTTTTGTTTCCCCTCCTGCCTTTTAGGGAAGACAAAGGCGCTTTGGCTAAGCTGGTGGAAGCTATCAGGACCAATTACAATGACAGATACGATGAGGTAAGAGGCAGCTTTACACCAAAATACTGTCATTCACAAATCTTTCTCCCAAATAACTGGCTGGCTTAACCTATGAGAAGTTCTATCTGACGATCAGCTTGGAACAGCCAAACAGAATTAACGCAACTAATAACCTTGAAAATCTCAGAAAACAGTAAGCCAAGCTAACTGCCTCTTTTTGTCTTTTCAGATCCGCCGTCACTGGGGTGGCAATGTCCTGGGTCCTAAGTCTGTGGCTCGTATCGCCAAGCTCGAAAAGGCAAAGGCTAAAGAACTTGCCACTAAACTGGGTTAAATGTACACTGTTGAGTTTTCTGTACATAAAAATAATTGAAATAATACAAATTTTCCTTCAGCCAGTGTCTGTTGAGTATCTCGGGTTGAATCTTACTTGGGGTTAGCAAGTATCTTTTTGAGACACAGCCTCACTCTGTCGCCCAGGCTGGAGTGCAGTGGTGTGATGTCAAAGCAACCTTCGCCTCCCAGGTTTAGGATATTCTGGTGCCTCAGCATCCCAACTGGCTGGCCCATATTTGTGTTTTTGGTAGAGATGGGGTTTCACCATGTTAGCCAGGCTGGTCTGAGCTCCTGACCGCACCCGGCCCTTCCCACCCTTAAATACATTCTTAAACCAGGCATTTTGTTCCCTAGAGATGTAACTTGAGTATCAAGTTTTGGGAAAGTTCTTTGGACTGAAACCAAGCCAGGATTTTATGATGAACCAGTCATGAGCTCATTTAAGGTAGAAGGCCAGAACTTTATACCAGTAGCACATGATCCAGCATAAAGGCAGTCTTGAAATACTGCATTATCCAGGGACAGGGCTTCAGCAGCTGATCTGTCACACACCAGGTGTCCCACGTAGGAATTTCTTAAACCACAGGTAGGATGTAGCTGCAGAGAGTCCATACCTAGGGGTTGAAAGCAAGCCAGCATTAGCAGGCTGCTAGGCTGAAGGGGAGGAAGCCAGAGGGCCGCTGGGGACTCACCAGGTCACGATGTACTGCAGATGCTCGTTCCTCAGAGTAACTCTGGTTTGCCCTCCAATGGGTCCTCCAGGGACTGTGCTCTCTGTGGAGACAGCAGACTCAAGTCCACCCCCTACTGGCCTGCCAGCCTCTGCACCACTTCCTAGTGGCTGTCATTTTTGCGTGGCCAGTTGGAAGTCCTGTATGGCCTTTACGTTGGGTGACCATCCCCGCCCTTGTCCGCTCAGTACTTGCCTAGGTTCTTTGCTGAGTTGCTGCCTCCTCCCACCCGCCATATACACATGTGAGAACATAAGCCACAGTAGTGACTGGGCAATGAGGGTTAGGAGGAAGGACAGTATTCACAAAAGCTACTTGTTCCGAGATGGGCTGGTCCACAACGTACGGAAGTTGGCATCAATGAAGATGGGCTCTGCGCCTGTGATTCTGGCCATAGCTTCCAGGTCTCGATAATGCCAGTGGTTCCTTTCTGGATTGTTCTCAGGGACAAAAGGCTGCCTGGTTTCTGTCAGCCTCACCATCCCAATGAGGTCCACTTCTCCCTCAATCTATAAAGGAAGGTGTGTGAGATTGCATGGAGCCTGGTGGACTCCCAGAGCCTTCTCTAAAGTAGGAAGAGTCCATGTCCCTTACCTGGCCTTTCTGCCGGGTTTCAGGATTCACTTTCTTCCTGGGAACGAACCCTCTATTTACCAGGATGGTGACTCTAGGGTAATGAAAGTGCTACTTCAGGTGGGGAGGGTTTTTGACTAAAGACAGTCACTCATGGTCACTCAGGCACCCATAGGAACAACTAGAGCACCAAGGAAGGCTTTTAAAACAGGGCTGGCTCAGTGGAGCCCTGGCAGTGCCACACAGGCAAAGTCTTCCTCTCTTGAGGCACCTTCGTGGTTGGTAAAAGGCTCCCTGCCACCATCACTACCTTTTTACCAGTGTGGCTTTCCCCTTCTATCTCTGCTTCTTGTGGTCTACCTACTACAACGTGCAACTGGTGAGCAACGCTGCCACGCCAGAGTTTAGACCCCACACCTCTCCCCTGAACTATGGCAAGAGCTGTCTCCAATCCCTCCTCCTAACCAAGGCAGCCGTGAGGAGCAGCCCTGGCACCCCAGCCTGCTGGAGATGAGTACTTGGGCCCCATCCCAGCCCTAAAACAGGAACCCATGGGTTAACAAGAGCCCCAGGTATTTTCATTTTTACGTGAATCCTCCAGTTCCCTAGTTAATCACACAGGTGCTCCTGTACCTGTCATTTGCTTTGCCTGGAATGTTCTTCCCATCTCTTAACTCCCAAATAGCCCTCTAGGGAGCCACCCCTGCCTCCACTCCCTCAAGGTAGGGCTGGGGTCCTTTCTCTTGAAGTCCTCTTGCTGGCCCCTCATAGCTTGCCATCATCTAATGTGTGGGCAACTAGACAGTTCTCCAGAGGCAGGGCCCCTGTTTCACGAATCCCTCCTTTCCCTTCAGAGGTCAACATACAGAAATTATCCAGTCATAAATGAGCTGGCTGAGAAGATTAAGTCAATGTCACAATTAGGGACTTAAACTATGCAAGGAATTGAATCTCCTGGGTATCTTGGGTTCCCCAGGGTCCTACCAAGGTTGGGGATTGTGAAGGAAATAGTGATGTAAATTAGTATACCCTGACTGCCTCTGCCAGGACAGCCAGCTCCCACATGTCCTACTCACCCCAGGTCGGTGCAGTGGAAGGGAGTGACCACATAGGCCCCACTCTGAGTTGAGGAGGAGATGAGGCCGCCCTCCCGGGCCTCCCGGACAGGGTCCACCATGGTCCGGGGCATCATATACAGCTCCTTGGAATGGTCAAAGCACCCCCTGACCTTCACTGGCCTATACTCCAGATTTTTCAGTTCCATTGGGCTGCATGGAGATAAGAACAGTGGCCGAGCAAGGTTTGGCTGGAAAACGAATCCCCTGAGGGTGGCAGACTACACAGCCCACCAGGGCCAGACAAGTGAAGGAGAAAGGCAAAGGGCGTGCTCTTCAAAGGGGAACTTTGATGCCATGTGGGAATGTGGATCTGCACTGCCAGAGTCCAAC
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ACGAAGAGACCACCTGTCCTTCGAGCAGGTGAGTAGGCCCCACCTTAGGGTGAACACTGGGGGCGGGCTGTTGCAGTGATGTAAAATTTCTTGGCCTGAAATTACTGTGAAGAGTAAAACCGAGCTTTTTAACACTGAGTCAGCAGCTGAGCCCAGCAGCTTCTTGTGACTAGAGCAGGCCCTGTGAGTGCTCACAAAGTGGTTGTGTGTTCTAGGAGTTAACACCGTCACCACCTTGGTGGAGAACAAGAAAGCTCAGCTGGTGGTGATTGCACACGACGTGGATCCCATCGAGGTGCGTTTGCCTGTTGACTGCTAACCCAAGGGCTTCTGGCAGTACCAGGAAGAGAGAGTAGACCTAATGCCAAGTCAGTGATGGGACCGAAGTGGGTGAGGGCAGTACTGACACAGATCCAACACATGCGTGGCTCTTGCAATGATGTGAATCTCTCACTGAATTCAACCTTGAAGTGCGAATCCATGAGCTTTTTAACCCTGAGCAATTGTTACAAGCTAACTGAAATTTGCTGCTTTTGGTCAAAATACAGTCTTCAGCTAATGCTTTCTTCCAGCTGGTTGTCTTCTTGCCTGCCCTGTGTCGTAAAATGGGGGTCCCTTACTGCATTATCAAGGGAAAGGCAAGACTGGGACGTCTAGTCCACAGGAAGACCTGCACCACTGTCGCCTTCACACAGGTGAACTCGTAAGTACACAGCCTGGCCCCAAACTTCCCCCCAGTTCATTTAATCCATGCCTCACAGTTGTTTCCTTTTGCCTTAAAGGCCAATCTTTTAGTTTAAGAAATATATTTATCTGAACTTTTGCCAATGATGGTTAAGAATTTCTTCACCTGAATAAACCATGTGGTCAGCATTGCATCTGAGGCAAAAGACTGTCTTGAGCTAAAAGGTATTTTTGCATTCTAAAAGGGAAACTAAGGCAAAAAACCCACTTTTGTTTCCCCTCCTGCCTTTTAGGGAAGACAAAGGCGCTTTGGCTAAGCTGGTGGAAGCTATCAGGACCAATTACAATGACAGATACGATGAGGTAAGAGGCAGCTTTACACCAAAATACTGTCATTCACAAATCTTTCTCCCAAATAACTGGCTGGCTTAACCTATGAGAAGTTCTATCTGACGATCAGCTTGGAACAGCCAAACAGAATTAACGCAACTAATAACCTTGAAAATCTCAGAAAACAGTAAGCCAAGCTAACTGCCTCTTTTTGTCTTTTCAGATCCGCCGTCACTGGGGTGGCAATGTCCTGGGTCCTAAGTCTGTGGCTCGTATCGCCAAGCTCGAAAAGGCAAAGGCTAAAGAACTTGCCACTAAACTGGGTTAAATGTACACTGTTGAGTTTTCTGTACATAAAAATAATTGAAATAATACAAATTTTCCTTCAGCCAGTGTCTGTTGAGTATCTCGGGTTGAATCTTACTTGGGGTTAGCAAGTATCTTTTTGAGACACAGCCTCACTCTGTCGCCCAGGCTGGAGTGCAGTGGTGTGATGTCAAAGCAACCTTCGCCTCCCAGGTTTAGGATATTCTGGTGCCTCAGCATCCCAACTGGCTGGCCCATATTTGTGTTTTTGGTAGAGATGGGGTTTCACCATGTTAGCCAGGCTGGTCTGAGCTCCTGACCGCACCCGGCCCTTCCCACCCTTAAATACATTCTTAAACCAGGCATTTTGTTCCCTAGAGATGTAACTTGAGTATCAAGTTTTGGGAAAGTTCTTTGGACTGAAACCAAGCCAGGATTTTATGATGAACCAGTCATGAGCTCATTTAAGGTAGAAGGCCAGAACTTTATACCAGTAGCACATGATCCAGCATAAAGGCAGTCTTGAAATACTGCATTATCCAGGGACAGGGCTTCAGCAGCTGATCTGTCACACACCAGGTGTCCCACGTAGGAATTTCTTAAACCACAGGTAGGATGTAGCTGCAGAGAGTCCATACCTAGGGGTTGAAAGCAAGCCAGCATTAGCAGGCTGCTAGGCTGAAGGGGAGGAAGCCAGAGGGCCGCTGGGGACTCACCAGGTCACGATGCACTGCAGATGCTCGTTCCTCAGAGTAACTCTGGTTTGCCCTCCAATGGGTCCTCCAGGGACTGTGCTCTCTGTGGAGACAGCAGACTCAAGTCCACCCCCTACTGGCCTGCCAGCCTCTGCACCACTTCCTAGTGGCTGTCATTTTTGCGTGGCCAGTTGGAAGTCCTGTATGGCCTTTACGTTGGGTGACCATCCCCGCCCTTGTCCGCTCAGTACTTGCCTAGGTTCTTTGCTGAGTTGCTGCCTCCTCCCACCCGCCATATACACATGTGAGAACATAAGCCACAGTAGTGACTGGGCAATGAGGGTTAGGAGGAAGGACAGTATTCACAAAAGCTACTTGTTCCGAGATGGGCTGGTCCACAACGTACGGAAGTTGGCATCAATGAAGATGGGCTCTGCGCCTGTGATTCTGGCCATAGCTTCCAGGTCTCGATAATGCCAGTGGTTCCTTTCTGGATTGTTCTCAGGGACAAAAGGCTGCCTGGTTTCTGTCAGCCTCACCATCCCAATGAGGTCCACTTCTCCCTCAATCTATAAAGGAAGGTGTGTGAGATTGCATGGAGCCTGGTGGACTCCCAGAGCCTTCTCTAAAGTAGGAAGAGTCCATGTCCCTTACCTGGCCTTTCTGCCGGGTTTCAGGATTCACTTTCTTCCTGGGAACGAACCCTCTATTTACCAGGATGGTGACTCTAGGGTAATGAAAGTGCTACTTCAGGTGGGGAGGGTTTTTGACTAAAGACAGTCACTCATGGTCACTCAGGCACCCATAGGAACAACTAGAGCACCAAGGAAGGCTTTTAAAACAGGGCTGGCTCAGTGGAGCCCTGGCAGTGCCACACAGGCAAAGTCTTCCTCTCTTGAGGCACCTTCGTGGTTGGTAAAAGGCTCCCTGCCACCATCACTACCTTTTTACCAGTGTGGCTTTCCCCTTCTATCTCTGCTTCTTGTGGTCTACCTACTACAACGTGCAACTGGTGAGCAACGCTGCCACGCCAGAGTTTAGACCCCACACCTCTCCCCTGAACTATGGCAAGAGCTGTCTCCAATCCCTCCTCCTAACCAAGGCAGCCGTGAGGAGCAGCCCTGGCACCCCAGCCTGCTGGAGATGAGTACTTGGGCCCCATCCCAGCCCTAAAACAGGAACCCATGGGTTAACAAGAGCCCCAGGTATTTTCATTTTTACGTGAATCCTCCAGTTCCCTAGTTAATCACACAGGTGCTCCTGTACCTGTCATTTGCTTTGCCTGGAATGTTCTTCCCATCTCTTAACTCCCAAATAGCCCTCTAGGGAGCCACCCCTGCCTCCACTCCCTCAAGGTAGGGCTGGGGTCCTTTCTCTTGAAGTCCTCTTGCTGGCCCCTCATAGCTTGCCATCATCTAATGTGTGGGCAACTAGACAGTTCTCCAGAGGCAGGGCCCCTGTTTCACGAATCCCTCCTTTCCCTTCAGAGGTCAACATACAGAAATTATCCAGTCATAAATGAGCTGGCTGAGAAGATTAAGTCAATGTCACAATTAGGGACTTAAACTATGCAAGGAATTGAATCTCCTGGGTATCTTGGGTTCCCCAGGGTCCTACCAAGGTTGGGGATTGTGAAGGAAATAGTGATGTAAATTAGTATACCCTGACTGCCTCTGCCAGGACAGCCAGCTCCCACATGTCCTACTCACCCCAGGTCGGTGCAGTGGAAGGGAGTGACCACATAGGCCCCACTCTGAGTTGAGGAGGAGATGAGGCCGCCCTCCCGGGCCTCCCGGACAGGGTCCACCATGGTCCGGGGCATCATATACAGCTCCTTGGAATGGTCAAAGCACCCCCTGACCTTCACTGGCCTATACTCCAGATTTTTCAGTTCCATTGGGCTGCATGGAGATAAGAACAGTGGCCGAGCAAGGTTTGGCTGGAAAACGAATCCCCTGAGGGTGGCAGACTACACAGCCCACCAGGGCCAGACAAGTGAAGGAGAAAGGCAAAGGGCGTGCTCTTCAAAGGGGAACTTTGATGCCATGTGGGAATGTGGATCTGCACTGCCAGAGTCCAAC
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Task1_train_13420
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Here is a mutation in SURF1 (SURF1 cytochrome c oxidase assembly factor) on Chromosome 9. Determine whether it’s benign or pathogenic. If the latter, what disease does it cause?
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Pathogenic; not provided
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CGAAGAGACCACCTGTCCTTCGAGCAGGTGAGTAGGCCCCACCTTAGGGTGAACACTGGGGGCGGGCTGTTGCAGTGATGTAAAATTTCTTGGCCTGAAATTACTGTGAAGAGTAAAACCGAGCTTTTTAACACTGAGTCAGCAGCTGAGCCCAGCAGCTTCTTGTGACTAGAGCAGGCCCTGTGAGTGCTCACAAAGTGGTTGTGTGTTCTAGGAGTTAACACCGTCACCACCTTGGTGGAGAACAAGAAAGCTCAGCTGGTGGTGATTGCACACGACGTGGATCCCATCGAGGTGCGTTTGCCTGTTGACTGCTAACCCAAGGGCTTCTGGCAGTACCAGGAAGAGAGAGTAGACCTAATGCCAAGTCAGTGATGGGACCGAAGTGGGTGAGGGCAGTACTGACACAGATCCAACACATGCGTGGCTCTTGCAATGATGTGAATCTCTCACTGAATTCAACCTTGAAGTGCGAATCCATGAGCTTTTTAACCCTGAGCAATTGTTACAAGCTAACTGAAATTTGCTGCTTTTGGTCAAAATACAGTCTTCAGCTAATGCTTTCTTCCAGCTGGTTGTCTTCTTGCCTGCCCTGTGTCGTAAAATGGGGGTCCCTTACTGCATTATCAAGGGAAAGGCAAGACTGGGACGTCTAGTCCACAGGAAGACCTGCACCACTGTCGCCTTCACACAGGTGAACTCGTAAGTACACAGCCTGGCCCCAAACTTCCCCCCAGTTCATTTAATCCATGCCTCACAGTTGTTTCCTTTTGCCTTAAAGGCCAATCTTTTAGTTTAAGAAATATATTTATCTGAACTTTTGCCAATGATGGTTAAGAATTTCTTCACCTGAATAAACCATGTGGTCAGCATTGCATCTGAGGCAAAAGACTGTCTTGAGCTAAAAGGTATTTTTGCATTCTAAAAGGGAAACTAAGGCAAAAAACCCACTTTTGTTTCCCCTCCTGCCTTTTAGGGAAGACAAAGGCGCTTTGGCTAAGCTGGTGGAAGCTATCAGGACCAATTACAATGACAGATACGATGAGGTAAGAGGCAGCTTTACACCAAAATACTGTCATTCACAAATCTTTCTCCCAAATAACTGGCTGGCTTAACCTATGAGAAGTTCTATCTGACGATCAGCTTGGAACAGCCAAACAGAATTAACGCAACTAATAACCTTGAAAATCTCAGAAAACAGTAAGCCAAGCTAACTGCCTCTTTTTGTCTTTTCAGATCCGCCGTCACTGGGGTGGCAATGTCCTGGGTCCTAAGTCTGTGGCTCGTATCGCCAAGCTCGAAAAGGCAAAGGCTAAAGAACTTGCCACTAAACTGGGTTAAATGTACACTGTTGAGTTTTCTGTACATAAAAATAATTGAAATAATACAAATTTTCCTTCAGCCAGTGTCTGTTGAGTATCTCGGGTTGAATCTTACTTGGGGTTAGCAAGTATCTTTTTGAGACACAGCCTCACTCTGTCGCCCAGGCTGGAGTGCAGTGGTGTGATGTCAAAGCAACCTTCGCCTCCCAGGTTTAGGATATTCTGGTGCCTCAGCATCCCAACTGGCTGGCCCATATTTGTGTTTTTGGTAGAGATGGGGTTTCACCATGTTAGCCAGGCTGGTCTGAGCTCCTGACCGCACCCGGCCCTTCCCACCCTTAAATACATTCTTAAACCAGGCATTTTGTTCCCTAGAGATGTAACTTGAGTATCAAGTTTTGGGAAAGTTCTTTGGACTGAAACCAAGCCAGGATTTTATGATGAACCAGTCATGAGCTCATTTAAGGTAGAAGGCCAGAACTTTATACCAGTAGCACATGATCCAGCATAAAGGCAGTCTTGAAATACTGCATTATCCAGGGACAGGGCTTCAGCAGCTGATCTGTCACACACCAGGTGTCCCACGTAGGAATTTCTTAAACCACAGGTAGGATGTAGCTGCAGAGAGTCCATACCTAGGGGTTGAAAGCAAGCCAGCATTAGCAGGCTGCTAGGCTGAAGGGGAGGAAGCCAGAGGGCCGCTGGGGACTCACCAGGTCACGATGTACTGCAGATGCTCGTTCCTCAGAGTAACTCTGGTTTGCCCTCCAATGGGTCCTCCAGGGACTGTGCTCTCTGTGGAGACAGCAGACTCAAGTCCACCCCCTACTGGCCTGCCAGCCTCTGCACCACTTCCTAGTGGCTGTCATTTTTGCGTGGCCAGTTGGAAGTCCTGTATGGCCTTTACGTTGGGTGACCATCCCCGCCCTTGTCCGCTCAGTACTTGCCTAGGTTCTTTGCTGAGTTGCTGCCTCCTCCCACCCGCCATATACACATGTGAGAACATAAGCCACAGTAGTGACTGGGCAATGAGGGTTAGGAGGAAGGACAGTATTCACAAAAGCTACTTGTTCCGAGATGGGCTGGTCCACAACGTACGGAAGTTGGCATCAATGAAGATGGGCTCTGCGCCTGTGATTCTGGCCATAGCTTCCAGGTCTCGATAATGCCAGTGGTTCCTTTCTGGATTGTTCTCAGGGACAAAAGGCTGCCTGGTTTCTGTCAGCCTCACCATCCCAATGAGGTCCACTTCTCCCTCAATCTATAAAGGAAGGTGTGTGAGATTGCATGGAGCCTGGTGGACTCCCAGAGCCTTCTCTAAAGTAGGAAGAGTCCATGTCCCTTACCTGGCCTTTCTGCCGGGTTTCAGGATTCACTTTCTTCCTGGGAACGAACCCTCTATTTACCAGGATGGTGACTCTAGGGTAATGAAAGTGCTACTTCAGGTGGGGAGGGTTTTTGACTAAAGACAGTCACTCATGGTCACTCAGGCACCCATAGGAACAACTAGAGCACCAAGGAAGGCTTTTAAAACAGGGCTGGCTCAGTGGAGCCCTGGCAGTGCCACACAGGCAAAGTCTTCCTCTCTTGAGGCACCTTCGTGGTTGGTAAAAGGCTCCCTGCCACCATCACTACCTTTTTACCAGTGTGGCTTTCCCCTTCTATCTCTGCTTCTTGTGGTCTACCTACTACAACGTGCAACTGGTGAGCAACGCTGCCACGCCAGAGTTTAGACCCCACACCTCTCCCCTGAACTATGGCAAGAGCTGTCTCCAATCCCTCCTCCTAACCAAGGCAGCCGTGAGGAGCAGCCCTGGCACCCCAGCCTGCTGGAGATGAGTACTTGGGCCCCATCCCAGCCCTAAAACAGGAACCCATGGGTTAACAAGAGCCCCAGGTATTTTCATTTTTACGTGAATCCTCCAGTTCCCTAGTTAATCACACAGGTGCTCCTGTACCTGTCATTTGCTTTGCCTGGAATGTTCTTCCCATCTCTTAACTCCCAAATAGCCCTCTAGGGAGCCACCCCTGCCTCCACTCCCTCAAGGTAGGGCTGGGGTCCTTTCTCTTGAAGTCCTCTTGCTGGCCCCTCATAGCTTGCCATCATCTAATGTGTGGGCAACTAGACAGTTCTCCAGAGGCAGGGCCCCTGTTTCACGAATCCCTCCTTTCCCTTCAGAGGTCAACATACAGAAATTATCCAGTCATAAATGAGCTGGCTGAGAAGATTAAGTCAATGTCACAATTAGGGACTTAAACTATGCAAGGAATTGAATCTCCTGGGTATCTTGGGTTCCCCAGGGTCCTACCAAGGTTGGGGATTGTGAAGGAAATAGTGATGTAAATTAGTATACCCTGACTGCCTCTGCCAGGACAGCCAGCTCCCACATGTCCTACTCACCCCAGGTCGGTGCAGTGGAAGGGAGTGACCACATAGGCCCCACTCTGAGTTGAGGAGGAGATGAGGCCGCCCTCCCGGGCCTCCCGGACAGGGTCCACCATGGTCCGGGGCATCATATACAGCTCCTTGGAATGGTCAAAGCACCCCCTGACCTTCACTGGCCTATACTCCAGATTTTTCAGTTCCATTGGGCTGCATGGAGATAAGAACAGTGGCCGAGCAAGGTTTGGCTGGAAAACGAATCCCCTGAGGGTGGCAGACTACACAGCCCACCAGGGCCAGACAAGTGAAGGAGAAAGGCAAAGGGCGTGCTCTTCAAAGGGGAACTTTGATGCCATGTGGGAATGTGGATCTGCACTGCCAGAGTCCAACT
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CGAAGAGACCACCTGTCCTTCGAGCAGGTGAGTAGGCCCCACCTTAGGGTGAACACTGGGGGCGGGCTGTTGCAGTGATGTAAAATTTCTTGGCCTGAAATTACTGTGAAGAGTAAAACCGAGCTTTTTAACACTGAGTCAGCAGCTGAGCCCAGCAGCTTCTTGTGACTAGAGCAGGCCCTGTGAGTGCTCACAAAGTGGTTGTGTGTTCTAGGAGTTAACACCGTCACCACCTTGGTGGAGAACAAGAAAGCTCAGCTGGTGGTGATTGCACACGACGTGGATCCCATCGAGGTGCGTTTGCCTGTTGACTGCTAACCCAAGGGCTTCTGGCAGTACCAGGAAGAGAGAGTAGACCTAATGCCAAGTCAGTGATGGGACCGAAGTGGGTGAGGGCAGTACTGACACAGATCCAACACATGCGTGGCTCTTGCAATGATGTGAATCTCTCACTGAATTCAACCTTGAAGTGCGAATCCATGAGCTTTTTAACCCTGAGCAATTGTTACAAGCTAACTGAAATTTGCTGCTTTTGGTCAAAATACAGTCTTCAGCTAATGCTTTCTTCCAGCTGGTTGTCTTCTTGCCTGCCCTGTGTCGTAAAATGGGGGTCCCTTACTGCATTATCAAGGGAAAGGCAAGACTGGGACGTCTAGTCCACAGGAAGACCTGCACCACTGTCGCCTTCACACAGGTGAACTCGTAAGTACACAGCCTGGCCCCAAACTTCCCCCCAGTTCATTTAATCCATGCCTCACAGTTGTTTCCTTTTGCCTTAAAGGCCAATCTTTTAGTTTAAGAAATATATTTATCTGAACTTTTGCCAATGATGGTTAAGAATTTCTTCACCTGAATAAACCATGTGGTCAGCATTGCATCTGAGGCAAAAGACTGTCTTGAGCTAAAAGGTATTTTTGCATTCTAAAAGGGAAACTAAGGCAAAAAACCCACTTTTGTTTCCCCTCCTGCCTTTTAGGGAAGACAAAGGCGCTTTGGCTAAGCTGGTGGAAGCTATCAGGACCAATTACAATGACAGATACGATGAGGTAAGAGGCAGCTTTACACCAAAATACTGTCATTCACAAATCTTTCTCCCAAATAACTGGCTGGCTTAACCTATGAGAAGTTCTATCTGACGATCAGCTTGGAACAGCCAAACAGAATTAACGCAACTAATAACCTTGAAAATCTCAGAAAACAGTAAGCCAAGCTAACTGCCTCTTTTTGTCTTTTCAGATCCGCCGTCACTGGGGTGGCAATGTCCTGGGTCCTAAGTCTGTGGCTCGTATCGCCAAGCTCGAAAAGGCAAAGGCTAAAGAACTTGCCACTAAACTGGGTTAAATGTACACTGTTGAGTTTTCTGTACATAAAAATAATTGAAATAATACAAATTTTCCTTCAGCCAGTGTCTGTTGAGTATCTCGGGTTGAATCTTACTTGGGGTTAGCAAGTATCTTTTTGAGACACAGCCTCACTCTGTCGCCCAGGCTGGAGTGCAGTGGTGTGATGTCAAAGCAACCTTCGCCTCCCAGGTTTAGGATATTCTGGTGCCTCAGCATCCCAACTGGCTGGCCCATATTTGTGTTTTTGGTAGAGATGGGGTTTCACCATGTTAGCCAGGCTGGTCTGAGCTCCTGACCGCACCCGGCCCTTCCCACCCTTAAATACATTCTTAAACCAGGCATTTTGTTCCCTAGAGATGTAACTTGAGTATCAAGTTTTGGGAAAGTTCTTTGGACTGAAACCAAGCCAGGATTTTATGATGAACCAGTCATGAGCTCATTTAAGGTAGAAGGCCAGAACTTTATACCAGTAGCACATGATCCAGCATAAAGGCAGTCTTGAAATACTGCATTATCCAGGGACAGGGCTTCAGCAGCTGATCTGTCACACACCAGGTGTCCCACGTAGGAATTTCTTAAACCACAGGTAGGATGTAGCTGCAGAGAGTCCATACCTAGGGGTTGAAAGCAAGCCAGCATTAGCAGGCTGCTAGGCTGAAGGGGAGGAAGCCAGAGGGCCGCTGGGGACTCACCAGGTCACGATGTCCTGCAGATGCTCGTTCCTCAGAGTAACTCTGGTTTGCCCTCCAATGGGTCCTCCAGGGACTGTGCTCTCTGTGGAGACAGCAGACTCAAGTCCACCCCCTACTGGCCTGCCAGCCTCTGCACCACTTCCTAGTGGCTGTCATTTTTGCGTGGCCAGTTGGAAGTCCTGTATGGCCTTTACGTTGGGTGACCATCCCCGCCCTTGTCCGCTCAGTACTTGCCTAGGTTCTTTGCTGAGTTGCTGCCTCCTCCCACCCGCCATATACACATGTGAGAACATAAGCCACAGTAGTGACTGGGCAATGAGGGTTAGGAGGAAGGACAGTATTCACAAAAGCTACTTGTTCCGAGATGGGCTGGTCCACAACGTACGGAAGTTGGCATCAATGAAGATGGGCTCTGCGCCTGTGATTCTGGCCATAGCTTCCAGGTCTCGATAATGCCAGTGGTTCCTTTCTGGATTGTTCTCAGGGACAAAAGGCTGCCTGGTTTCTGTCAGCCTCACCATCCCAATGAGGTCCACTTCTCCCTCAATCTATAAAGGAAGGTGTGTGAGATTGCATGGAGCCTGGTGGACTCCCAGAGCCTTCTCTAAAGTAGGAAGAGTCCATGTCCCTTACCTGGCCTTTCTGCCGGGTTTCAGGATTCACTTTCTTCCTGGGAACGAACCCTCTATTTACCAGGATGGTGACTCTAGGGTAATGAAAGTGCTACTTCAGGTGGGGAGGGTTTTTGACTAAAGACAGTCACTCATGGTCACTCAGGCACCCATAGGAACAACTAGAGCACCAAGGAAGGCTTTTAAAACAGGGCTGGCTCAGTGGAGCCCTGGCAGTGCCACACAGGCAAAGTCTTCCTCTCTTGAGGCACCTTCGTGGTTGGTAAAAGGCTCCCTGCCACCATCACTACCTTTTTACCAGTGTGGCTTTCCCCTTCTATCTCTGCTTCTTGTGGTCTACCTACTACAACGTGCAACTGGTGAGCAACGCTGCCACGCCAGAGTTTAGACCCCACACCTCTCCCCTGAACTATGGCAAGAGCTGTCTCCAATCCCTCCTCCTAACCAAGGCAGCCGTGAGGAGCAGCCCTGGCACCCCAGCCTGCTGGAGATGAGTACTTGGGCCCCATCCCAGCCCTAAAACAGGAACCCATGGGTTAACAAGAGCCCCAGGTATTTTCATTTTTACGTGAATCCTCCAGTTCCCTAGTTAATCACACAGGTGCTCCTGTACCTGTCATTTGCTTTGCCTGGAATGTTCTTCCCATCTCTTAACTCCCAAATAGCCCTCTAGGGAGCCACCCCTGCCTCCACTCCCTCAAGGTAGGGCTGGGGTCCTTTCTCTTGAAGTCCTCTTGCTGGCCCCTCATAGCTTGCCATCATCTAATGTGTGGGCAACTAGACAGTTCTCCAGAGGCAGGGCCCCTGTTTCACGAATCCCTCCTTTCCCTTCAGAGGTCAACATACAGAAATTATCCAGTCATAAATGAGCTGGCTGAGAAGATTAAGTCAATGTCACAATTAGGGACTTAAACTATGCAAGGAATTGAATCTCCTGGGTATCTTGGGTTCCCCAGGGTCCTACCAAGGTTGGGGATTGTGAAGGAAATAGTGATGTAAATTAGTATACCCTGACTGCCTCTGCCAGGACAGCCAGCTCCCACATGTCCTACTCACCCCAGGTCGGTGCAGTGGAAGGGAGTGACCACATAGGCCCCACTCTGAGTTGAGGAGGAGATGAGGCCGCCCTCCCGGGCCTCCCGGACAGGGTCCACCATGGTCCGGGGCATCATATACAGCTCCTTGGAATGGTCAAAGCACCCCCTGACCTTCACTGGCCTATACTCCAGATTTTTCAGTTCCATTGGGCTGCATGGAGATAAGAACAGTGGCCGAGCAAGGTTTGGCTGGAAAACGAATCCCCTGAGGGTGGCAGACTACACAGCCCACCAGGGCCAGACAAGTGAAGGAGAAAGGCAAAGGGCGTGCTCTTCAAAGGGGAACTTTGATGCCATGTGGGAATGTGGATCTGCACTGCCAGAGTCCAACT
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Task1_train_13421
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This sequence change occurs on Chromosome 9, altering SURF1 (SURF1 cytochrome c oxidase assembly factor). What is the medical significance of this variant — is it benign or linked to a disease?
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Pathogenic; Leigh syndrome
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GTGAACACTGGGGGCGGGCTGTTGCAGTGATGTAAAATTTCTTGGCCTGAAATTACTGTGAAGAGTAAAACCGAGCTTTTTAACACTGAGTCAGCAGCTGAGCCCAGCAGCTTCTTGTGACTAGAGCAGGCCCTGTGAGTGCTCACAAAGTGGTTGTGTGTTCTAGGAGTTAACACCGTCACCACCTTGGTGGAGAACAAGAAAGCTCAGCTGGTGGTGATTGCACACGACGTGGATCCCATCGAGGTGCGTTTGCCTGTTGACTGCTAACCCAAGGGCTTCTGGCAGTACCAGGAAGAGAGAGTAGACCTAATGCCAAGTCAGTGATGGGACCGAAGTGGGTGAGGGCAGTACTGACACAGATCCAACACATGCGTGGCTCTTGCAATGATGTGAATCTCTCACTGAATTCAACCTTGAAGTGCGAATCCATGAGCTTTTTAACCCTGAGCAATTGTTACAAGCTAACTGAAATTTGCTGCTTTTGGTCAAAATACAGTCTTCAGCTAATGCTTTCTTCCAGCTGGTTGTCTTCTTGCCTGCCCTGTGTCGTAAAATGGGGGTCCCTTACTGCATTATCAAGGGAAAGGCAAGACTGGGACGTCTAGTCCACAGGAAGACCTGCACCACTGTCGCCTTCACACAGGTGAACTCGTAAGTACACAGCCTGGCCCCAAACTTCCCCCCAGTTCATTTAATCCATGCCTCACAGTTGTTTCCTTTTGCCTTAAAGGCCAATCTTTTAGTTTAAGAAATATATTTATCTGAACTTTTGCCAATGATGGTTAAGAATTTCTTCACCTGAATAAACCATGTGGTCAGCATTGCATCTGAGGCAAAAGACTGTCTTGAGCTAAAAGGTATTTTTGCATTCTAAAAGGGAAACTAAGGCAAAAAACCCACTTTTGTTTCCCCTCCTGCCTTTTAGGGAAGACAAAGGCGCTTTGGCTAAGCTGGTGGAAGCTATCAGGACCAATTACAATGACAGATACGATGAGGTAAGAGGCAGCTTTACACCAAAATACTGTCATTCACAAATCTTTCTCCCAAATAACTGGCTGGCTTAACCTATGAGAAGTTCTATCTGACGATCAGCTTGGAACAGCCAAACAGAATTAACGCAACTAATAACCTTGAAAATCTCAGAAAACAGTAAGCCAAGCTAACTGCCTCTTTTTGTCTTTTCAGATCCGCCGTCACTGGGGTGGCAATGTCCTGGGTCCTAAGTCTGTGGCTCGTATCGCCAAGCTCGAAAAGGCAAAGGCTAAAGAACTTGCCACTAAACTGGGTTAAATGTACACTGTTGAGTTTTCTGTACATAAAAATAATTGAAATAATACAAATTTTCCTTCAGCCAGTGTCTGTTGAGTATCTCGGGTTGAATCTTACTTGGGGTTAGCAAGTATCTTTTTGAGACACAGCCTCACTCTGTCGCCCAGGCTGGAGTGCAGTGGTGTGATGTCAAAGCAACCTTCGCCTCCCAGGTTTAGGATATTCTGGTGCCTCAGCATCCCAACTGGCTGGCCCATATTTGTGTTTTTGGTAGAGATGGGGTTTCACCATGTTAGCCAGGCTGGTCTGAGCTCCTGACCGCACCCGGCCCTTCCCACCCTTAAATACATTCTTAAACCAGGCATTTTGTTCCCTAGAGATGTAACTTGAGTATCAAGTTTTGGGAAAGTTCTTTGGACTGAAACCAAGCCAGGATTTTATGATGAACCAGTCATGAGCTCATTTAAGGTAGAAGGCCAGAACTTTATACCAGTAGCACATGATCCAGCATAAAGGCAGTCTTGAAATACTGCATTATCCAGGGACAGGGCTTCAGCAGCTGATCTGTCACACACCAGGTGTCCCACGTAGGAATTTCTTAAACCACAGGTAGGATGTAGCTGCAGAGAGTCCATACCTAGGGGTTGAAAGCAAGCCAGCATTAGCAGGCTGCTAGGCTGAAGGGGAGGAAGCCAGAGGGCCGCTGGGGACTCACCAGGTCACGATGTACTGCAGATGCTCGTTCCTCAGAGTAACTCTGGTTTGCCCTCCAATGGGTCCTCCAGGGACTGTGCTCTCTGTGGAGACAGCAGACTCAAGTCCACCCCCTACTGGCCTGCCAGCCTCTGCACCACTTCCTAGTGGCTGTCATTTTTGCGTGGCCAGTTGGAAGTCCTGTATGGCCTTTACGTTGGGTGACCATCCCCGCCCTTGTCCGCTCAGTACTTGCCTAGGTTCTTTGCTGAGTTGCTGCCTCCTCCCACCCGCCATATACACATGTGAGAACATAAGCCACAGTAGTGACTGGGCAATGAGGGTTAGGAGGAAGGACAGTATTCACAAAAGCTACTTGTTCCGAGATGGGCTGGTCCACAACGTACGGAAGTTGGCATCAATGAAGATGGGCTCTGCGCCTGTGATTCTGGCCATAGCTTCCAGGTCTCGATAATGCCAGTGGTTCCTTTCTGGATTGTTCTCAGGGACAAAAGGCTGCCTGGTTTCTGTCAGCCTCACCATCCCAATGAGGTCCACTTCTCCCTCAATCTATAAAGGAAGGTGTGTGAGATTGCATGGAGCCTGGTGGACTCCCAGAGCCTTCTCTAAAGTAGGAAGAGTCCATGTCCCTTACCTGGCCTTTCTGCCGGGTTTCAGGATTCACTTTCTTCCTGGGAACGAACCCTCTATTTACCAGGATGGTGACTCTAGGGTAATGAAAGTGCTACTTCAGGTGGGGAGGGTTTTTGACTAAAGACAGTCACTCATGGTCACTCAGGCACCCATAGGAACAACTAGAGCACCAAGGAAGGCTTTTAAAACAGGGCTGGCTCAGTGGAGCCCTGGCAGTGCCACACAGGCAAAGTCTTCCTCTCTTGAGGCACCTTCGTGGTTGGTAAAAGGCTCCCTGCCACCATCACTACCTTTTTACCAGTGTGGCTTTCCCCTTCTATCTCTGCTTCTTGTGGTCTACCTACTACAACGTGCAACTGGTGAGCAACGCTGCCACGCCAGAGTTTAGACCCCACACCTCTCCCCTGAACTATGGCAAGAGCTGTCTCCAATCCCTCCTCCTAACCAAGGCAGCCGTGAGGAGCAGCCCTGGCACCCCAGCCTGCTGGAGATGAGTACTTGGGCCCCATCCCAGCCCTAAAACAGGAACCCATGGGTTAACAAGAGCCCCAGGTATTTTCATTTTTACGTGAATCCTCCAGTTCCCTAGTTAATCACACAGGTGCTCCTGTACCTGTCATTTGCTTTGCCTGGAATGTTCTTCCCATCTCTTAACTCCCAAATAGCCCTCTAGGGAGCCACCCCTGCCTCCACTCCCTCAAGGTAGGGCTGGGGTCCTTTCTCTTGAAGTCCTCTTGCTGGCCCCTCATAGCTTGCCATCATCTAATGTGTGGGCAACTAGACAGTTCTCCAGAGGCAGGGCCCCTGTTTCACGAATCCCTCCTTTCCCTTCAGAGGTCAACATACAGAAATTATCCAGTCATAAATGAGCTGGCTGAGAAGATTAAGTCAATGTCACAATTAGGGACTTAAACTATGCAAGGAATTGAATCTCCTGGGTATCTTGGGTTCCCCAGGGTCCTACCAAGGTTGGGGATTGTGAAGGAAATAGTGATGTAAATTAGTATACCCTGACTGCCTCTGCCAGGACAGCCAGCTCCCACATGTCCTACTCACCCCAGGTCGGTGCAGTGGAAGGGAGTGACCACATAGGCCCCACTCTGAGTTGAGGAGGAGATGAGGCCGCCCTCCCGGGCCTCCCGGACAGGGTCCACCATGGTCCGGGGCATCATATACAGCTCCTTGGAATGGTCAAAGCACCCCCTGACCTTCACTGGCCTATACTCCAGATTTTTCAGTTCCATTGGGCTGCATGGAGATAAGAACAGTGGCCGAGCAAGGTTTGGCTGGAAAACGAATCCCCTGAGGGTGGCAGACTACACAGCCCACCAGGGCCAGACAAGTGAAGGAGAAAGGCAAAGGGCGTGCTCTTCAAAGGGGAACTTTGATGCCATGTGGGAATGTGGATCTGCACTGCCAGAGTCCAACTTTACAAGAGAGGCTAAAAATCTGGACTCCTCAATGAATATTTTATGTG
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GTGAACACTGGGGGCGGGCTGTTGCAGTGATGTAAAATTTCTTGGCCTGAAATTACTGTGAAGAGTAAAACCGAGCTTTTTAACACTGAGTCAGCAGCTGAGCCCAGCAGCTTCTTGTGACTAGAGCAGGCCCTGTGAGTGCTCACAAAGTGGTTGTGTGTTCTAGGAGTTAACACCGTCACCACCTTGGTGGAGAACAAGAAAGCTCAGCTGGTGGTGATTGCACACGACGTGGATCCCATCGAGGTGCGTTTGCCTGTTGACTGCTAACCCAAGGGCTTCTGGCAGTACCAGGAAGAGAGAGTAGACCTAATGCCAAGTCAGTGATGGGACCGAAGTGGGTGAGGGCAGTACTGACACAGATCCAACACATGCGTGGCTCTTGCAATGATGTGAATCTCTCACTGAATTCAACCTTGAAGTGCGAATCCATGAGCTTTTTAACCCTGAGCAATTGTTACAAGCTAACTGAAATTTGCTGCTTTTGGTCAAAATACAGTCTTCAGCTAATGCTTTCTTCCAGCTGGTTGTCTTCTTGCCTGCCCTGTGTCGTAAAATGGGGGTCCCTTACTGCATTATCAAGGGAAAGGCAAGACTGGGACGTCTAGTCCACAGGAAGACCTGCACCACTGTCGCCTTCACACAGGTGAACTCGTAAGTACACAGCCTGGCCCCAAACTTCCCCCCAGTTCATTTAATCCATGCCTCACAGTTGTTTCCTTTTGCCTTAAAGGCCAATCTTTTAGTTTAAGAAATATATTTATCTGAACTTTTGCCAATGATGGTTAAGAATTTCTTCACCTGAATAAACCATGTGGTCAGCATTGCATCTGAGGCAAAAGACTGTCTTGAGCTAAAAGGTATTTTTGCATTCTAAAAGGGAAACTAAGGCAAAAAACCCACTTTTGTTTCCCCTCCTGCCTTTTAGGGAAGACAAAGGCGCTTTGGCTAAGCTGGTGGAAGCTATCAGGACCAATTACAATGACAGATACGATGAGGTAAGAGGCAGCTTTACACCAAAATACTGTCATTCACAAATCTTTCTCCCAAATAACTGGCTGGCTTAACCTATGAGAAGTTCTATCTGACGATCAGCTTGGAACAGCCAAACAGAATTAACGCAACTAATAACCTTGAAAATCTCAGAAAACAGTAAGCCAAGCTAACTGCCTCTTTTTGTCTTTTCAGATCCGCCGTCACTGGGGTGGCAATGTCCTGGGTCCTAAGTCTGTGGCTCGTATCGCCAAGCTCGAAAAGGCAAAGGCTAAAGAACTTGCCACTAAACTGGGTTAAATGTACACTGTTGAGTTTTCTGTACATAAAAATAATTGAAATAATACAAATTTTCCTTCAGCCAGTGTCTGTTGAGTATCTCGGGTTGAATCTTACTTGGGGTTAGCAAGTATCTTTTTGAGACACAGCCTCACTCTGTCGCCCAGGCTGGAGTGCAGTGGTGTGATGTCAAAGCAACCTTCGCCTCCCAGGTTTAGGATATTCTGGTGCCTCAGCATCCCAACTGGCTGGCCCATATTTGTGTTTTTGGTAGAGATGGGGTTTCACCATGTTAGCCAGGCTGGTCTGAGCTCCTGACCGCACCCGGCCCTTCCCACCCTTAAATACATTCTTAAACCAGGCATTTTGTTCCCTAGAGATGTAACTTGAGTATCAAGTTTTGGGAAAGTTCTTTGGACTGAAACCAAGCCAGGATTTTATGATGAACCAGTCATGAGCTCATTTAAGGTAGAAGGCCAGAACTTTATACCAGTAGCACATGATCCAGCATAAAGGCAGTCTTGAAATACTGCATTATCCAGGGACAGGGCTTCAGCAGCTGATCTGTCACACACCAGGTGTCCCACGTAGGAATTTCTTAAACCACAGGTAGGATGTAGCTGCAGAGAGTCCATACCTAGGGGTTGAAAGCAAGCCAGCATTAGCAGGCTGCTAGGCTGAAGGGGAGGAAGCCAGAGGGCCGCTGGGGACTCACCAGGTCACGATGTACTGCAGATGCTCGTTCCTCAGAGTAACTCTGGTTTGCCCTCCAATGGATCCTCCAGGGACTGTGCTCTCTGTGGAGACAGCAGACTCAAGTCCACCCCCTACTGGCCTGCCAGCCTCTGCACCACTTCCTAGTGGCTGTCATTTTTGCGTGGCCAGTTGGAAGTCCTGTATGGCCTTTACGTTGGGTGACCATCCCCGCCCTTGTCCGCTCAGTACTTGCCTAGGTTCTTTGCTGAGTTGCTGCCTCCTCCCACCCGCCATATACACATGTGAGAACATAAGCCACAGTAGTGACTGGGCAATGAGGGTTAGGAGGAAGGACAGTATTCACAAAAGCTACTTGTTCCGAGATGGGCTGGTCCACAACGTACGGAAGTTGGCATCAATGAAGATGGGCTCTGCGCCTGTGATTCTGGCCATAGCTTCCAGGTCTCGATAATGCCAGTGGTTCCTTTCTGGATTGTTCTCAGGGACAAAAGGCTGCCTGGTTTCTGTCAGCCTCACCATCCCAATGAGGTCCACTTCTCCCTCAATCTATAAAGGAAGGTGTGTGAGATTGCATGGAGCCTGGTGGACTCCCAGAGCCTTCTCTAAAGTAGGAAGAGTCCATGTCCCTTACCTGGCCTTTCTGCCGGGTTTCAGGATTCACTTTCTTCCTGGGAACGAACCCTCTATTTACCAGGATGGTGACTCTAGGGTAATGAAAGTGCTACTTCAGGTGGGGAGGGTTTTTGACTAAAGACAGTCACTCATGGTCACTCAGGCACCCATAGGAACAACTAGAGCACCAAGGAAGGCTTTTAAAACAGGGCTGGCTCAGTGGAGCCCTGGCAGTGCCACACAGGCAAAGTCTTCCTCTCTTGAGGCACCTTCGTGGTTGGTAAAAGGCTCCCTGCCACCATCACTACCTTTTTACCAGTGTGGCTTTCCCCTTCTATCTCTGCTTCTTGTGGTCTACCTACTACAACGTGCAACTGGTGAGCAACGCTGCCACGCCAGAGTTTAGACCCCACACCTCTCCCCTGAACTATGGCAAGAGCTGTCTCCAATCCCTCCTCCTAACCAAGGCAGCCGTGAGGAGCAGCCCTGGCACCCCAGCCTGCTGGAGATGAGTACTTGGGCCCCATCCCAGCCCTAAAACAGGAACCCATGGGTTAACAAGAGCCCCAGGTATTTTCATTTTTACGTGAATCCTCCAGTTCCCTAGTTAATCACACAGGTGCTCCTGTACCTGTCATTTGCTTTGCCTGGAATGTTCTTCCCATCTCTTAACTCCCAAATAGCCCTCTAGGGAGCCACCCCTGCCTCCACTCCCTCAAGGTAGGGCTGGGGTCCTTTCTCTTGAAGTCCTCTTGCTGGCCCCTCATAGCTTGCCATCATCTAATGTGTGGGCAACTAGACAGTTCTCCAGAGGCAGGGCCCCTGTTTCACGAATCCCTCCTTTCCCTTCAGAGGTCAACATACAGAAATTATCCAGTCATAAATGAGCTGGCTGAGAAGATTAAGTCAATGTCACAATTAGGGACTTAAACTATGCAAGGAATTGAATCTCCTGGGTATCTTGGGTTCCCCAGGGTCCTACCAAGGTTGGGGATTGTGAAGGAAATAGTGATGTAAATTAGTATACCCTGACTGCCTCTGCCAGGACAGCCAGCTCCCACATGTCCTACTCACCCCAGGTCGGTGCAGTGGAAGGGAGTGACCACATAGGCCCCACTCTGAGTTGAGGAGGAGATGAGGCCGCCCTCCCGGGCCTCCCGGACAGGGTCCACCATGGTCCGGGGCATCATATACAGCTCCTTGGAATGGTCAAAGCACCCCCTGACCTTCACTGGCCTATACTCCAGATTTTTCAGTTCCATTGGGCTGCATGGAGATAAGAACAGTGGCCGAGCAAGGTTTGGCTGGAAAACGAATCCCCTGAGGGTGGCAGACTACACAGCCCACCAGGGCCAGACAAGTGAAGGAGAAAGGCAAAGGGCGTGCTCTTCAAAGGGGAACTTTGATGCCATGTGGGAATGTGGATCTGCACTGCCAGAGTCCAACTTTACAAGAGAGGCTAAAAATCTGGACTCCTCAATGAATATTTTATGTG
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Task1_train_13422
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This variant impacts the gene SURF1 (SURF1 cytochrome c oxidase assembly factor) on Chromosome 9. Is the change likely to result in a pathogenic outcome?
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Pathogenic; Mitochondrial complex IV deficiency, nuclear type 1
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AACACTGGGGGCGGGCTGTTGCAGTGATGTAAAATTTCTTGGCCTGAAATTACTGTGAAGAGTAAAACCGAGCTTTTTAACACTGAGTCAGCAGCTGAGCCCAGCAGCTTCTTGTGACTAGAGCAGGCCCTGTGAGTGCTCACAAAGTGGTTGTGTGTTCTAGGAGTTAACACCGTCACCACCTTGGTGGAGAACAAGAAAGCTCAGCTGGTGGTGATTGCACACGACGTGGATCCCATCGAGGTGCGTTTGCCTGTTGACTGCTAACCCAAGGGCTTCTGGCAGTACCAGGAAGAGAGAGTAGACCTAATGCCAAGTCAGTGATGGGACCGAAGTGGGTGAGGGCAGTACTGACACAGATCCAACACATGCGTGGCTCTTGCAATGATGTGAATCTCTCACTGAATTCAACCTTGAAGTGCGAATCCATGAGCTTTTTAACCCTGAGCAATTGTTACAAGCTAACTGAAATTTGCTGCTTTTGGTCAAAATACAGTCTTCAGCTAATGCTTTCTTCCAGCTGGTTGTCTTCTTGCCTGCCCTGTGTCGTAAAATGGGGGTCCCTTACTGCATTATCAAGGGAAAGGCAAGACTGGGACGTCTAGTCCACAGGAAGACCTGCACCACTGTCGCCTTCACACAGGTGAACTCGTAAGTACACAGCCTGGCCCCAAACTTCCCCCCAGTTCATTTAATCCATGCCTCACAGTTGTTTCCTTTTGCCTTAAAGGCCAATCTTTTAGTTTAAGAAATATATTTATCTGAACTTTTGCCAATGATGGTTAAGAATTTCTTCACCTGAATAAACCATGTGGTCAGCATTGCATCTGAGGCAAAAGACTGTCTTGAGCTAAAAGGTATTTTTGCATTCTAAAAGGGAAACTAAGGCAAAAAACCCACTTTTGTTTCCCCTCCTGCCTTTTAGGGAAGACAAAGGCGCTTTGGCTAAGCTGGTGGAAGCTATCAGGACCAATTACAATGACAGATACGATGAGGTAAGAGGCAGCTTTACACCAAAATACTGTCATTCACAAATCTTTCTCCCAAATAACTGGCTGGCTTAACCTATGAGAAGTTCTATCTGACGATCAGCTTGGAACAGCCAAACAGAATTAACGCAACTAATAACCTTGAAAATCTCAGAAAACAGTAAGCCAAGCTAACTGCCTCTTTTTGTCTTTTCAGATCCGCCGTCACTGGGGTGGCAATGTCCTGGGTCCTAAGTCTGTGGCTCGTATCGCCAAGCTCGAAAAGGCAAAGGCTAAAGAACTTGCCACTAAACTGGGTTAAATGTACACTGTTGAGTTTTCTGTACATAAAAATAATTGAAATAATACAAATTTTCCTTCAGCCAGTGTCTGTTGAGTATCTCGGGTTGAATCTTACTTGGGGTTAGCAAGTATCTTTTTGAGACACAGCCTCACTCTGTCGCCCAGGCTGGAGTGCAGTGGTGTGATGTCAAAGCAACCTTCGCCTCCCAGGTTTAGGATATTCTGGTGCCTCAGCATCCCAACTGGCTGGCCCATATTTGTGTTTTTGGTAGAGATGGGGTTTCACCATGTTAGCCAGGCTGGTCTGAGCTCCTGACCGCACCCGGCCCTTCCCACCCTTAAATACATTCTTAAACCAGGCATTTTGTTCCCTAGAGATGTAACTTGAGTATCAAGTTTTGGGAAAGTTCTTTGGACTGAAACCAAGCCAGGATTTTATGATGAACCAGTCATGAGCTCATTTAAGGTAGAAGGCCAGAACTTTATACCAGTAGCACATGATCCAGCATAAAGGCAGTCTTGAAATACTGCATTATCCAGGGACAGGGCTTCAGCAGCTGATCTGTCACACACCAGGTGTCCCACGTAGGAATTTCTTAAACCACAGGTAGGATGTAGCTGCAGAGAGTCCATACCTAGGGGTTGAAAGCAAGCCAGCATTAGCAGGCTGCTAGGCTGAAGGGGAGGAAGCCAGAGGGCCGCTGGGGACTCACCAGGTCACGATGTACTGCAGATGCTCGTTCCTCAGAGTAACTCTGGTTTGCCCTCCAATGGGTCCTCCAGGGACTGTGCTCTCTGTGGAGACAGCAGACTCAAGTCCACCCCCTACTGGCCTGCCAGCCTCTGCACCACTTCCTAGTGGCTGTCATTTTTGCGTGGCCAGTTGGAAGTCCTGTATGGCCTTTACGTTGGGTGACCATCCCCGCCCTTGTCCGCTCAGTACTTGCCTAGGTTCTTTGCTGAGTTGCTGCCTCCTCCCACCCGCCATATACACATGTGAGAACATAAGCCACAGTAGTGACTGGGCAATGAGGGTTAGGAGGAAGGACAGTATTCACAAAAGCTACTTGTTCCGAGATGGGCTGGTCCACAACGTACGGAAGTTGGCATCAATGAAGATGGGCTCTGCGCCTGTGATTCTGGCCATAGCTTCCAGGTCTCGATAATGCCAGTGGTTCCTTTCTGGATTGTTCTCAGGGACAAAAGGCTGCCTGGTTTCTGTCAGCCTCACCATCCCAATGAGGTCCACTTCTCCCTCAATCTATAAAGGAAGGTGTGTGAGATTGCATGGAGCCTGGTGGACTCCCAGAGCCTTCTCTAAAGTAGGAAGAGTCCATGTCCCTTACCTGGCCTTTCTGCCGGGTTTCAGGATTCACTTTCTTCCTGGGAACGAACCCTCTATTTACCAGGATGGTGACTCTAGGGTAATGAAAGTGCTACTTCAGGTGGGGAGGGTTTTTGACTAAAGACAGTCACTCATGGTCACTCAGGCACCCATAGGAACAACTAGAGCACCAAGGAAGGCTTTTAAAACAGGGCTGGCTCAGTGGAGCCCTGGCAGTGCCACACAGGCAAAGTCTTCCTCTCTTGAGGCACCTTCGTGGTTGGTAAAAGGCTCCCTGCCACCATCACTACCTTTTTACCAGTGTGGCTTTCCCCTTCTATCTCTGCTTCTTGTGGTCTACCTACTACAACGTGCAACTGGTGAGCAACGCTGCCACGCCAGAGTTTAGACCCCACACCTCTCCCCTGAACTATGGCAAGAGCTGTCTCCAATCCCTCCTCCTAACCAAGGCAGCCGTGAGGAGCAGCCCTGGCACCCCAGCCTGCTGGAGATGAGTACTTGGGCCCCATCCCAGCCCTAAAACAGGAACCCATGGGTTAACAAGAGCCCCAGGTATTTTCATTTTTACGTGAATCCTCCAGTTCCCTAGTTAATCACACAGGTGCTCCTGTACCTGTCATTTGCTTTGCCTGGAATGTTCTTCCCATCTCTTAACTCCCAAATAGCCCTCTAGGGAGCCACCCCTGCCTCCACTCCCTCAAGGTAGGGCTGGGGTCCTTTCTCTTGAAGTCCTCTTGCTGGCCCCTCATAGCTTGCCATCATCTAATGTGTGGGCAACTAGACAGTTCTCCAGAGGCAGGGCCCCTGTTTCACGAATCCCTCCTTTCCCTTCAGAGGTCAACATACAGAAATTATCCAGTCATAAATGAGCTGGCTGAGAAGATTAAGTCAATGTCACAATTAGGGACTTAAACTATGCAAGGAATTGAATCTCCTGGGTATCTTGGGTTCCCCAGGGTCCTACCAAGGTTGGGGATTGTGAAGGAAATAGTGATGTAAATTAGTATACCCTGACTGCCTCTGCCAGGACAGCCAGCTCCCACATGTCCTACTCACCCCAGGTCGGTGCAGTGGAAGGGAGTGACCACATAGGCCCCACTCTGAGTTGAGGAGGAGATGAGGCCGCCCTCCCGGGCCTCCCGGACAGGGTCCACCATGGTCCGGGGCATCATATACAGCTCCTTGGAATGGTCAAAGCACCCCCTGACCTTCACTGGCCTATACTCCAGATTTTTCAGTTCCATTGGGCTGCATGGAGATAAGAACAGTGGCCGAGCAAGGTTTGGCTGGAAAACGAATCCCCTGAGGGTGGCAGACTACACAGCCCACCAGGGCCAGACAAGTGAAGGAGAAAGGCAAAGGGCGTGCTCTTCAAAGGGGAACTTTGATGCCATGTGGGAATGTGGATCTGCACTGCCAGAGTCCAACTTTACAAGAGAGGCTAAAAATCTGGACTCCTCAATGAATATTTTATGTGAAA
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AACACTGGGGGCGGGCTGTTGCAGTGATGTAAAATTTCTTGGCCTGAAATTACTGTGAAGAGTAAAACCGAGCTTTTTAACACTGAGTCAGCAGCTGAGCCCAGCAGCTTCTTGTGACTAGAGCAGGCCCTGTGAGTGCTCACAAAGTGGTTGTGTGTTCTAGGAGTTAACACCGTCACCACCTTGGTGGAGAACAAGAAAGCTCAGCTGGTGGTGATTGCACACGACGTGGATCCCATCGAGGTGCGTTTGCCTGTTGACTGCTAACCCAAGGGCTTCTGGCAGTACCAGGAAGAGAGAGTAGACCTAATGCCAAGTCAGTGATGGGACCGAAGTGGGTGAGGGCAGTACTGACACAGATCCAACACATGCGTGGCTCTTGCAATGATGTGAATCTCTCACTGAATTCAACCTTGAAGTGCGAATCCATGAGCTTTTTAACCCTGAGCAATTGTTACAAGCTAACTGAAATTTGCTGCTTTTGGTCAAAATACAGTCTTCAGCTAATGCTTTCTTCCAGCTGGTTGTCTTCTTGCCTGCCCTGTGTCGTAAAATGGGGGTCCCTTACTGCATTATCAAGGGAAAGGCAAGACTGGGACGTCTAGTCCACAGGAAGACCTGCACCACTGTCGCCTTCACACAGGTGAACTCGTAAGTACACAGCCTGGCCCCAAACTTCCCCCCAGTTCATTTAATCCATGCCTCACAGTTGTTTCCTTTTGCCTTAAAGGCCAATCTTTTAGTTTAAGAAATATATTTATCTGAACTTTTGCCAATGATGGTTAAGAATTTCTTCACCTGAATAAACCATGTGGTCAGCATTGCATCTGAGGCAAAAGACTGTCTTGAGCTAAAAGGTATTTTTGCATTCTAAAAGGGAAACTAAGGCAAAAAACCCACTTTTGTTTCCCCTCCTGCCTTTTAGGGAAGACAAAGGCGCTTTGGCTAAGCTGGTGGAAGCTATCAGGACCAATTACAATGACAGATACGATGAGGTAAGAGGCAGCTTTACACCAAAATACTGTCATTCACAAATCTTTCTCCCAAATAACTGGCTGGCTTAACCTATGAGAAGTTCTATCTGACGATCAGCTTGGAACAGCCAAACAGAATTAACGCAACTAATAACCTTGAAAATCTCAGAAAACAGTAAGCCAAGCTAACTGCCTCTTTTTGTCTTTTCAGATCCGCCGTCACTGGGGTGGCAATGTCCTGGGTCCTAAGTCTGTGGCTCGTATCGCCAAGCTCGAAAAGGCAAAGGCTAAAGAACTTGCCACTAAACTGGGTTAAATGTACACTGTTGAGTTTTCTGTACATAAAAATAATTGAAATAATACAAATTTTCCTTCAGCCAGTGTCTGTTGAGTATCTCGGGTTGAATCTTACTTGGGGTTAGCAAGTATCTTTTTGAGACACAGCCTCACTCTGTCGCCCAGGCTGGAGTGCAGTGGTGTGATGTCAAAGCAACCTTCGCCTCCCAGGTTTAGGATATTCTGGTGCCTCAGCATCCCAACTGGCTGGCCCATATTTGTGTTTTTGGTAGAGATGGGGTTTCACCATGTTAGCCAGGCTGGTCTGAGCTCCTGACCGCACCCGGCCCTTCCCACCCTTAAATACATTCTTAAACCAGGCATTTTGTTCCCTAGAGATGTAACTTGAGTATCAAGTTTTGGGAAAGTTCTTTGGACTGAAACCAAGCCAGGATTTTATGATGAACCAGTCATGAGCTCATTTAAGGTAGAAGGCCAGAACTTTATACCAGTAGCACATGATCCAGCATAAAGGCAGTCTTGAAATACTGCATTATCCAGGGACAGGGCTTCAGCAGCTGATCTGTCACACACCAGGTGTCCCACGTAGGAATTTCTTAAACCACAGGTAGGATGTAGCTGCAGAGAGTCCATACCTAGGGGTTGAAAGCAAGCCAGCATTAGCAGGCTGCTAGGCTGAAGGGGAGGAAGCCAGAGGGCCGCTGGGGACTCACCAGGTCACGATGTACTGCAGATGCTCGTTCCTCAGAGTAACTCTGGTTTGCCCTCCAATGGGTCTTCCAGGGACTGTGCTCTCTGTGGAGACAGCAGACTCAAGTCCACCCCCTACTGGCCTGCCAGCCTCTGCACCACTTCCTAGTGGCTGTCATTTTTGCGTGGCCAGTTGGAAGTCCTGTATGGCCTTTACGTTGGGTGACCATCCCCGCCCTTGTCCGCTCAGTACTTGCCTAGGTTCTTTGCTGAGTTGCTGCCTCCTCCCACCCGCCATATACACATGTGAGAACATAAGCCACAGTAGTGACTGGGCAATGAGGGTTAGGAGGAAGGACAGTATTCACAAAAGCTACTTGTTCCGAGATGGGCTGGTCCACAACGTACGGAAGTTGGCATCAATGAAGATGGGCTCTGCGCCTGTGATTCTGGCCATAGCTTCCAGGTCTCGATAATGCCAGTGGTTCCTTTCTGGATTGTTCTCAGGGACAAAAGGCTGCCTGGTTTCTGTCAGCCTCACCATCCCAATGAGGTCCACTTCTCCCTCAATCTATAAAGGAAGGTGTGTGAGATTGCATGGAGCCTGGTGGACTCCCAGAGCCTTCTCTAAAGTAGGAAGAGTCCATGTCCCTTACCTGGCCTTTCTGCCGGGTTTCAGGATTCACTTTCTTCCTGGGAACGAACCCTCTATTTACCAGGATGGTGACTCTAGGGTAATGAAAGTGCTACTTCAGGTGGGGAGGGTTTTTGACTAAAGACAGTCACTCATGGTCACTCAGGCACCCATAGGAACAACTAGAGCACCAAGGAAGGCTTTTAAAACAGGGCTGGCTCAGTGGAGCCCTGGCAGTGCCACACAGGCAAAGTCTTCCTCTCTTGAGGCACCTTCGTGGTTGGTAAAAGGCTCCCTGCCACCATCACTACCTTTTTACCAGTGTGGCTTTCCCCTTCTATCTCTGCTTCTTGTGGTCTACCTACTACAACGTGCAACTGGTGAGCAACGCTGCCACGCCAGAGTTTAGACCCCACACCTCTCCCCTGAACTATGGCAAGAGCTGTCTCCAATCCCTCCTCCTAACCAAGGCAGCCGTGAGGAGCAGCCCTGGCACCCCAGCCTGCTGGAGATGAGTACTTGGGCCCCATCCCAGCCCTAAAACAGGAACCCATGGGTTAACAAGAGCCCCAGGTATTTTCATTTTTACGTGAATCCTCCAGTTCCCTAGTTAATCACACAGGTGCTCCTGTACCTGTCATTTGCTTTGCCTGGAATGTTCTTCCCATCTCTTAACTCCCAAATAGCCCTCTAGGGAGCCACCCCTGCCTCCACTCCCTCAAGGTAGGGCTGGGGTCCTTTCTCTTGAAGTCCTCTTGCTGGCCCCTCATAGCTTGCCATCATCTAATGTGTGGGCAACTAGACAGTTCTCCAGAGGCAGGGCCCCTGTTTCACGAATCCCTCCTTTCCCTTCAGAGGTCAACATACAGAAATTATCCAGTCATAAATGAGCTGGCTGAGAAGATTAAGTCAATGTCACAATTAGGGACTTAAACTATGCAAGGAATTGAATCTCCTGGGTATCTTGGGTTCCCCAGGGTCCTACCAAGGTTGGGGATTGTGAAGGAAATAGTGATGTAAATTAGTATACCCTGACTGCCTCTGCCAGGACAGCCAGCTCCCACATGTCCTACTCACCCCAGGTCGGTGCAGTGGAAGGGAGTGACCACATAGGCCCCACTCTGAGTTGAGGAGGAGATGAGGCCGCCCTCCCGGGCCTCCCGGACAGGGTCCACCATGGTCCGGGGCATCATATACAGCTCCTTGGAATGGTCAAAGCACCCCCTGACCTTCACTGGCCTATACTCCAGATTTTTCAGTTCCATTGGGCTGCATGGAGATAAGAACAGTGGCCGAGCAAGGTTTGGCTGGAAAACGAATCCCCTGAGGGTGGCAGACTACACAGCCCACCAGGGCCAGACAAGTGAAGGAGAAAGGCAAAGGGCGTGCTCTTCAAAGGGGAACTTTGATGCCATGTGGGAATGTGGATCTGCACTGCCAGAGTCCAACTTTACAAGAGAGGCTAAAAATCTGGACTCCTCAATGAATATTTTATGTGAAA
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Task1_train_13423
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An alteration has been detected in SURF1 (SURF1 cytochrome c oxidase assembly factor) on Chromosome 9. Is it pathogenic, and if so, what disease is involved?
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Pathogenic; Charcot-Marie-Tooth disease type 4K
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AACACTGGGGGCGGGCTGTTGCAGTGATGTAAAATTTCTTGGCCTGAAATTACTGTGAAGAGTAAAACCGAGCTTTTTAACACTGAGTCAGCAGCTGAGCCCAGCAGCTTCTTGTGACTAGAGCAGGCCCTGTGAGTGCTCACAAAGTGGTTGTGTGTTCTAGGAGTTAACACCGTCACCACCTTGGTGGAGAACAAGAAAGCTCAGCTGGTGGTGATTGCACACGACGTGGATCCCATCGAGGTGCGTTTGCCTGTTGACTGCTAACCCAAGGGCTTCTGGCAGTACCAGGAAGAGAGAGTAGACCTAATGCCAAGTCAGTGATGGGACCGAAGTGGGTGAGGGCAGTACTGACACAGATCCAACACATGCGTGGCTCTTGCAATGATGTGAATCTCTCACTGAATTCAACCTTGAAGTGCGAATCCATGAGCTTTTTAACCCTGAGCAATTGTTACAAGCTAACTGAAATTTGCTGCTTTTGGTCAAAATACAGTCTTCAGCTAATGCTTTCTTCCAGCTGGTTGTCTTCTTGCCTGCCCTGTGTCGTAAAATGGGGGTCCCTTACTGCATTATCAAGGGAAAGGCAAGACTGGGACGTCTAGTCCACAGGAAGACCTGCACCACTGTCGCCTTCACACAGGTGAACTCGTAAGTACACAGCCTGGCCCCAAACTTCCCCCCAGTTCATTTAATCCATGCCTCACAGTTGTTTCCTTTTGCCTTAAAGGCCAATCTTTTAGTTTAAGAAATATATTTATCTGAACTTTTGCCAATGATGGTTAAGAATTTCTTCACCTGAATAAACCATGTGGTCAGCATTGCATCTGAGGCAAAAGACTGTCTTGAGCTAAAAGGTATTTTTGCATTCTAAAAGGGAAACTAAGGCAAAAAACCCACTTTTGTTTCCCCTCCTGCCTTTTAGGGAAGACAAAGGCGCTTTGGCTAAGCTGGTGGAAGCTATCAGGACCAATTACAATGACAGATACGATGAGGTAAGAGGCAGCTTTACACCAAAATACTGTCATTCACAAATCTTTCTCCCAAATAACTGGCTGGCTTAACCTATGAGAAGTTCTATCTGACGATCAGCTTGGAACAGCCAAACAGAATTAACGCAACTAATAACCTTGAAAATCTCAGAAAACAGTAAGCCAAGCTAACTGCCTCTTTTTGTCTTTTCAGATCCGCCGTCACTGGGGTGGCAATGTCCTGGGTCCTAAGTCTGTGGCTCGTATCGCCAAGCTCGAAAAGGCAAAGGCTAAAGAACTTGCCACTAAACTGGGTTAAATGTACACTGTTGAGTTTTCTGTACATAAAAATAATTGAAATAATACAAATTTTCCTTCAGCCAGTGTCTGTTGAGTATCTCGGGTTGAATCTTACTTGGGGTTAGCAAGTATCTTTTTGAGACACAGCCTCACTCTGTCGCCCAGGCTGGAGTGCAGTGGTGTGATGTCAAAGCAACCTTCGCCTCCCAGGTTTAGGATATTCTGGTGCCTCAGCATCCCAACTGGCTGGCCCATATTTGTGTTTTTGGTAGAGATGGGGTTTCACCATGTTAGCCAGGCTGGTCTGAGCTCCTGACCGCACCCGGCCCTTCCCACCCTTAAATACATTCTTAAACCAGGCATTTTGTTCCCTAGAGATGTAACTTGAGTATCAAGTTTTGGGAAAGTTCTTTGGACTGAAACCAAGCCAGGATTTTATGATGAACCAGTCATGAGCTCATTTAAGGTAGAAGGCCAGAACTTTATACCAGTAGCACATGATCCAGCATAAAGGCAGTCTTGAAATACTGCATTATCCAGGGACAGGGCTTCAGCAGCTGATCTGTCACACACCAGGTGTCCCACGTAGGAATTTCTTAAACCACAGGTAGGATGTAGCTGCAGAGAGTCCATACCTAGGGGTTGAAAGCAAGCCAGCATTAGCAGGCTGCTAGGCTGAAGGGGAGGAAGCCAGAGGGCCGCTGGGGACTCACCAGGTCACGATGTACTGCAGATGCTCGTTCCTCAGAGTAACTCTGGTTTGCCCTCCAATGGGTCCTCCAGGGACTGTGCTCTCTGTGGAGACAGCAGACTCAAGTCCACCCCCTACTGGCCTGCCAGCCTCTGCACCACTTCCTAGTGGCTGTCATTTTTGCGTGGCCAGTTGGAAGTCCTGTATGGCCTTTACGTTGGGTGACCATCCCCGCCCTTGTCCGCTCAGTACTTGCCTAGGTTCTTTGCTGAGTTGCTGCCTCCTCCCACCCGCCATATACACATGTGAGAACATAAGCCACAGTAGTGACTGGGCAATGAGGGTTAGGAGGAAGGACAGTATTCACAAAAGCTACTTGTTCCGAGATGGGCTGGTCCACAACGTACGGAAGTTGGCATCAATGAAGATGGGCTCTGCGCCTGTGATTCTGGCCATAGCTTCCAGGTCTCGATAATGCCAGTGGTTCCTTTCTGGATTGTTCTCAGGGACAAAAGGCTGCCTGGTTTCTGTCAGCCTCACCATCCCAATGAGGTCCACTTCTCCCTCAATCTATAAAGGAAGGTGTGTGAGATTGCATGGAGCCTGGTGGACTCCCAGAGCCTTCTCTAAAGTAGGAAGAGTCCATGTCCCTTACCTGGCCTTTCTGCCGGGTTTCAGGATTCACTTTCTTCCTGGGAACGAACCCTCTATTTACCAGGATGGTGACTCTAGGGTAATGAAAGTGCTACTTCAGGTGGGGAGGGTTTTTGACTAAAGACAGTCACTCATGGTCACTCAGGCACCCATAGGAACAACTAGAGCACCAAGGAAGGCTTTTAAAACAGGGCTGGCTCAGTGGAGCCCTGGCAGTGCCACACAGGCAAAGTCTTCCTCTCTTGAGGCACCTTCGTGGTTGGTAAAAGGCTCCCTGCCACCATCACTACCTTTTTACCAGTGTGGCTTTCCCCTTCTATCTCTGCTTCTTGTGGTCTACCTACTACAACGTGCAACTGGTGAGCAACGCTGCCACGCCAGAGTTTAGACCCCACACCTCTCCCCTGAACTATGGCAAGAGCTGTCTCCAATCCCTCCTCCTAACCAAGGCAGCCGTGAGGAGCAGCCCTGGCACCCCAGCCTGCTGGAGATGAGTACTTGGGCCCCATCCCAGCCCTAAAACAGGAACCCATGGGTTAACAAGAGCCCCAGGTATTTTCATTTTTACGTGAATCCTCCAGTTCCCTAGTTAATCACACAGGTGCTCCTGTACCTGTCATTTGCTTTGCCTGGAATGTTCTTCCCATCTCTTAACTCCCAAATAGCCCTCTAGGGAGCCACCCCTGCCTCCACTCCCTCAAGGTAGGGCTGGGGTCCTTTCTCTTGAAGTCCTCTTGCTGGCCCCTCATAGCTTGCCATCATCTAATGTGTGGGCAACTAGACAGTTCTCCAGAGGCAGGGCCCCTGTTTCACGAATCCCTCCTTTCCCTTCAGAGGTCAACATACAGAAATTATCCAGTCATAAATGAGCTGGCTGAGAAGATTAAGTCAATGTCACAATTAGGGACTTAAACTATGCAAGGAATTGAATCTCCTGGGTATCTTGGGTTCCCCAGGGTCCTACCAAGGTTGGGGATTGTGAAGGAAATAGTGATGTAAATTAGTATACCCTGACTGCCTCTGCCAGGACAGCCAGCTCCCACATGTCCTACTCACCCCAGGTCGGTGCAGTGGAAGGGAGTGACCACATAGGCCCCACTCTGAGTTGAGGAGGAGATGAGGCCGCCCTCCCGGGCCTCCCGGACAGGGTCCACCATGGTCCGGGGCATCATATACAGCTCCTTGGAATGGTCAAAGCACCCCCTGACCTTCACTGGCCTATACTCCAGATTTTTCAGTTCCATTGGGCTGCATGGAGATAAGAACAGTGGCCGAGCAAGGTTTGGCTGGAAAACGAATCCCCTGAGGGTGGCAGACTACACAGCCCACCAGGGCCAGACAAGTGAAGGAGAAAGGCAAAGGGCGTGCTCTTCAAAGGGGAACTTTGATGCCATGTGGGAATGTGGATCTGCACTGCCAGAGTCCAACTTTACAAGAGAGGCTAAAAATCTGGACTCCTCAATGAATATTTTATGTGAAA
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AACACTGGGGGCGGGCTGTTGCAGTGATGTAAAATTTCTTGGCCTGAAATTACTGTGAAGAGTAAAACCGAGCTTTTTAACACTGAGTCAGCAGCTGAGCCCAGCAGCTTCTTGTGACTAGAGCAGGCCCTGTGAGTGCTCACAAAGTGGTTGTGTGTTCTAGGAGTTAACACCGTCACCACCTTGGTGGAGAACAAGAAAGCTCAGCTGGTGGTGATTGCACACGACGTGGATCCCATCGAGGTGCGTTTGCCTGTTGACTGCTAACCCAAGGGCTTCTGGCAGTACCAGGAAGAGAGAGTAGACCTAATGCCAAGTCAGTGATGGGACCGAAGTGGGTGAGGGCAGTACTGACACAGATCCAACACATGCGTGGCTCTTGCAATGATGTGAATCTCTCACTGAATTCAACCTTGAAGTGCGAATCCATGAGCTTTTTAACCCTGAGCAATTGTTACAAGCTAACTGAAATTTGCTGCTTTTGGTCAAAATACAGTCTTCAGCTAATGCTTTCTTCCAGCTGGTTGTCTTCTTGCCTGCCCTGTGTCGTAAAATGGGGGTCCCTTACTGCATTATCAAGGGAAAGGCAAGACTGGGACGTCTAGTCCACAGGAAGACCTGCACCACTGTCGCCTTCACACAGGTGAACTCGTAAGTACACAGCCTGGCCCCAAACTTCCCCCCAGTTCATTTAATCCATGCCTCACAGTTGTTTCCTTTTGCCTTAAAGGCCAATCTTTTAGTTTAAGAAATATATTTATCTGAACTTTTGCCAATGATGGTTAAGAATTTCTTCACCTGAATAAACCATGTGGTCAGCATTGCATCTGAGGCAAAAGACTGTCTTGAGCTAAAAGGTATTTTTGCATTCTAAAAGGGAAACTAAGGCAAAAAACCCACTTTTGTTTCCCCTCCTGCCTTTTAGGGAAGACAAAGGCGCTTTGGCTAAGCTGGTGGAAGCTATCAGGACCAATTACAATGACAGATACGATGAGGTAAGAGGCAGCTTTACACCAAAATACTGTCATTCACAAATCTTTCTCCCAAATAACTGGCTGGCTTAACCTATGAGAAGTTCTATCTGACGATCAGCTTGGAACAGCCAAACAGAATTAACGCAACTAATAACCTTGAAAATCTCAGAAAACAGTAAGCCAAGCTAACTGCCTCTTTTTGTCTTTTCAGATCCGCCGTCACTGGGGTGGCAATGTCCTGGGTCCTAAGTCTGTGGCTCGTATCGCCAAGCTCGAAAAGGCAAAGGCTAAAGAACTTGCCACTAAACTGGGTTAAATGTACACTGTTGAGTTTTCTGTACATAAAAATAATTGAAATAATACAAATTTTCCTTCAGCCAGTGTCTGTTGAGTATCTCGGGTTGAATCTTACTTGGGGTTAGCAAGTATCTTTTTGAGACACAGCCTCACTCTGTCGCCCAGGCTGGAGTGCAGTGGTGTGATGTCAAAGCAACCTTCGCCTCCCAGGTTTAGGATATTCTGGTGCCTCAGCATCCCAACTGGCTGGCCCATATTTGTGTTTTTGGTAGAGATGGGGTTTCACCATGTTAGCCAGGCTGGTCTGAGCTCCTGACCGCACCCGGCCCTTCCCACCCTTAAATACATTCTTAAACCAGGCATTTTGTTCCCTAGAGATGTAACTTGAGTATCAAGTTTTGGGAAAGTTCTTTGGACTGAAACCAAGCCAGGATTTTATGATGAACCAGTCATGAGCTCATTTAAGGTAGAAGGCCAGAACTTTATACCAGTAGCACATGATCCAGCATAAAGGCAGTCTTGAAATACTGCATTATCCAGGGACAGGGCTTCAGCAGCTGATCTGTCACACACCAGGTGTCCCACGTAGGAATTTCTTAAACCACAGGTAGGATGTAGCTGCAGAGAGTCCATACCTAGGGGTTGAAAGCAAGCCAGCATTAGCAGGCTGCTAGGCTGAAGGGGAGGAAGCCAGAGGGCCGCTGGGGACTCACCAGGTCACGATGTACTGCAGATGCTCGTTCCTCAGAGTAACTCTGGTTTGCCCTCCAATGGGTCTTCCAGGGACTGTGCTCTCTGTGGAGACAGCAGACTCAAGTCCACCCCCTACTGGCCTGCCAGCCTCTGCACCACTTCCTAGTGGCTGTCATTTTTGCGTGGCCAGTTGGAAGTCCTGTATGGCCTTTACGTTGGGTGACCATCCCCGCCCTTGTCCGCTCAGTACTTGCCTAGGTTCTTTGCTGAGTTGCTGCCTCCTCCCACCCGCCATATACACATGTGAGAACATAAGCCACAGTAGTGACTGGGCAATGAGGGTTAGGAGGAAGGACAGTATTCACAAAAGCTACTTGTTCCGAGATGGGCTGGTCCACAACGTACGGAAGTTGGCATCAATGAAGATGGGCTCTGCGCCTGTGATTCTGGCCATAGCTTCCAGGTCTCGATAATGCCAGTGGTTCCTTTCTGGATTGTTCTCAGGGACAAAAGGCTGCCTGGTTTCTGTCAGCCTCACCATCCCAATGAGGTCCACTTCTCCCTCAATCTATAAAGGAAGGTGTGTGAGATTGCATGGAGCCTGGTGGACTCCCAGAGCCTTCTCTAAAGTAGGAAGAGTCCATGTCCCTTACCTGGCCTTTCTGCCGGGTTTCAGGATTCACTTTCTTCCTGGGAACGAACCCTCTATTTACCAGGATGGTGACTCTAGGGTAATGAAAGTGCTACTTCAGGTGGGGAGGGTTTTTGACTAAAGACAGTCACTCATGGTCACTCAGGCACCCATAGGAACAACTAGAGCACCAAGGAAGGCTTTTAAAACAGGGCTGGCTCAGTGGAGCCCTGGCAGTGCCACACAGGCAAAGTCTTCCTCTCTTGAGGCACCTTCGTGGTTGGTAAAAGGCTCCCTGCCACCATCACTACCTTTTTACCAGTGTGGCTTTCCCCTTCTATCTCTGCTTCTTGTGGTCTACCTACTACAACGTGCAACTGGTGAGCAACGCTGCCACGCCAGAGTTTAGACCCCACACCTCTCCCCTGAACTATGGCAAGAGCTGTCTCCAATCCCTCCTCCTAACCAAGGCAGCCGTGAGGAGCAGCCCTGGCACCCCAGCCTGCTGGAGATGAGTACTTGGGCCCCATCCCAGCCCTAAAACAGGAACCCATGGGTTAACAAGAGCCCCAGGTATTTTCATTTTTACGTGAATCCTCCAGTTCCCTAGTTAATCACACAGGTGCTCCTGTACCTGTCATTTGCTTTGCCTGGAATGTTCTTCCCATCTCTTAACTCCCAAATAGCCCTCTAGGGAGCCACCCCTGCCTCCACTCCCTCAAGGTAGGGCTGGGGTCCTTTCTCTTGAAGTCCTCTTGCTGGCCCCTCATAGCTTGCCATCATCTAATGTGTGGGCAACTAGACAGTTCTCCAGAGGCAGGGCCCCTGTTTCACGAATCCCTCCTTTCCCTTCAGAGGTCAACATACAGAAATTATCCAGTCATAAATGAGCTGGCTGAGAAGATTAAGTCAATGTCACAATTAGGGACTTAAACTATGCAAGGAATTGAATCTCCTGGGTATCTTGGGTTCCCCAGGGTCCTACCAAGGTTGGGGATTGTGAAGGAAATAGTGATGTAAATTAGTATACCCTGACTGCCTCTGCCAGGACAGCCAGCTCCCACATGTCCTACTCACCCCAGGTCGGTGCAGTGGAAGGGAGTGACCACATAGGCCCCACTCTGAGTTGAGGAGGAGATGAGGCCGCCCTCCCGGGCCTCCCGGACAGGGTCCACCATGGTCCGGGGCATCATATACAGCTCCTTGGAATGGTCAAAGCACCCCCTGACCTTCACTGGCCTATACTCCAGATTTTTCAGTTCCATTGGGCTGCATGGAGATAAGAACAGTGGCCGAGCAAGGTTTGGCTGGAAAACGAATCCCCTGAGGGTGGCAGACTACACAGCCCACCAGGGCCAGACAAGTGAAGGAGAAAGGCAAAGGGCGTGCTCTTCAAAGGGGAACTTTGATGCCATGTGGGAATGTGGATCTGCACTGCCAGAGTCCAACTTTACAAGAGAGGCTAAAAATCTGGACTCCTCAATGAATATTTTATGTGAAA
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Task1_train_13424
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This is a variant in SURF1 (SURF1 cytochrome c oxidase assembly factor), located on Chromosome 9. Is this mutation a likely cause of disease or not?
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Pathogenic; Leigh syndrome
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AACACTGGGGGCGGGCTGTTGCAGTGATGTAAAATTTCTTGGCCTGAAATTACTGTGAAGAGTAAAACCGAGCTTTTTAACACTGAGTCAGCAGCTGAGCCCAGCAGCTTCTTGTGACTAGAGCAGGCCCTGTGAGTGCTCACAAAGTGGTTGTGTGTTCTAGGAGTTAACACCGTCACCACCTTGGTGGAGAACAAGAAAGCTCAGCTGGTGGTGATTGCACACGACGTGGATCCCATCGAGGTGCGTTTGCCTGTTGACTGCTAACCCAAGGGCTTCTGGCAGTACCAGGAAGAGAGAGTAGACCTAATGCCAAGTCAGTGATGGGACCGAAGTGGGTGAGGGCAGTACTGACACAGATCCAACACATGCGTGGCTCTTGCAATGATGTGAATCTCTCACTGAATTCAACCTTGAAGTGCGAATCCATGAGCTTTTTAACCCTGAGCAATTGTTACAAGCTAACTGAAATTTGCTGCTTTTGGTCAAAATACAGTCTTCAGCTAATGCTTTCTTCCAGCTGGTTGTCTTCTTGCCTGCCCTGTGTCGTAAAATGGGGGTCCCTTACTGCATTATCAAGGGAAAGGCAAGACTGGGACGTCTAGTCCACAGGAAGACCTGCACCACTGTCGCCTTCACACAGGTGAACTCGTAAGTACACAGCCTGGCCCCAAACTTCCCCCCAGTTCATTTAATCCATGCCTCACAGTTGTTTCCTTTTGCCTTAAAGGCCAATCTTTTAGTTTAAGAAATATATTTATCTGAACTTTTGCCAATGATGGTTAAGAATTTCTTCACCTGAATAAACCATGTGGTCAGCATTGCATCTGAGGCAAAAGACTGTCTTGAGCTAAAAGGTATTTTTGCATTCTAAAAGGGAAACTAAGGCAAAAAACCCACTTTTGTTTCCCCTCCTGCCTTTTAGGGAAGACAAAGGCGCTTTGGCTAAGCTGGTGGAAGCTATCAGGACCAATTACAATGACAGATACGATGAGGTAAGAGGCAGCTTTACACCAAAATACTGTCATTCACAAATCTTTCTCCCAAATAACTGGCTGGCTTAACCTATGAGAAGTTCTATCTGACGATCAGCTTGGAACAGCCAAACAGAATTAACGCAACTAATAACCTTGAAAATCTCAGAAAACAGTAAGCCAAGCTAACTGCCTCTTTTTGTCTTTTCAGATCCGCCGTCACTGGGGTGGCAATGTCCTGGGTCCTAAGTCTGTGGCTCGTATCGCCAAGCTCGAAAAGGCAAAGGCTAAAGAACTTGCCACTAAACTGGGTTAAATGTACACTGTTGAGTTTTCTGTACATAAAAATAATTGAAATAATACAAATTTTCCTTCAGCCAGTGTCTGTTGAGTATCTCGGGTTGAATCTTACTTGGGGTTAGCAAGTATCTTTTTGAGACACAGCCTCACTCTGTCGCCCAGGCTGGAGTGCAGTGGTGTGATGTCAAAGCAACCTTCGCCTCCCAGGTTTAGGATATTCTGGTGCCTCAGCATCCCAACTGGCTGGCCCATATTTGTGTTTTTGGTAGAGATGGGGTTTCACCATGTTAGCCAGGCTGGTCTGAGCTCCTGACCGCACCCGGCCCTTCCCACCCTTAAATACATTCTTAAACCAGGCATTTTGTTCCCTAGAGATGTAACTTGAGTATCAAGTTTTGGGAAAGTTCTTTGGACTGAAACCAAGCCAGGATTTTATGATGAACCAGTCATGAGCTCATTTAAGGTAGAAGGCCAGAACTTTATACCAGTAGCACATGATCCAGCATAAAGGCAGTCTTGAAATACTGCATTATCCAGGGACAGGGCTTCAGCAGCTGATCTGTCACACACCAGGTGTCCCACGTAGGAATTTCTTAAACCACAGGTAGGATGTAGCTGCAGAGAGTCCATACCTAGGGGTTGAAAGCAAGCCAGCATTAGCAGGCTGCTAGGCTGAAGGGGAGGAAGCCAGAGGGCCGCTGGGGACTCACCAGGTCACGATGTACTGCAGATGCTCGTTCCTCAGAGTAACTCTGGTTTGCCCTCCAATGGGTCCTCCAGGGACTGTGCTCTCTGTGGAGACAGCAGACTCAAGTCCACCCCCTACTGGCCTGCCAGCCTCTGCACCACTTCCTAGTGGCTGTCATTTTTGCGTGGCCAGTTGGAAGTCCTGTATGGCCTTTACGTTGGGTGACCATCCCCGCCCTTGTCCGCTCAGTACTTGCCTAGGTTCTTTGCTGAGTTGCTGCCTCCTCCCACCCGCCATATACACATGTGAGAACATAAGCCACAGTAGTGACTGGGCAATGAGGGTTAGGAGGAAGGACAGTATTCACAAAAGCTACTTGTTCCGAGATGGGCTGGTCCACAACGTACGGAAGTTGGCATCAATGAAGATGGGCTCTGCGCCTGTGATTCTGGCCATAGCTTCCAGGTCTCGATAATGCCAGTGGTTCCTTTCTGGATTGTTCTCAGGGACAAAAGGCTGCCTGGTTTCTGTCAGCCTCACCATCCCAATGAGGTCCACTTCTCCCTCAATCTATAAAGGAAGGTGTGTGAGATTGCATGGAGCCTGGTGGACTCCCAGAGCCTTCTCTAAAGTAGGAAGAGTCCATGTCCCTTACCTGGCCTTTCTGCCGGGTTTCAGGATTCACTTTCTTCCTGGGAACGAACCCTCTATTTACCAGGATGGTGACTCTAGGGTAATGAAAGTGCTACTTCAGGTGGGGAGGGTTTTTGACTAAAGACAGTCACTCATGGTCACTCAGGCACCCATAGGAACAACTAGAGCACCAAGGAAGGCTTTTAAAACAGGGCTGGCTCAGTGGAGCCCTGGCAGTGCCACACAGGCAAAGTCTTCCTCTCTTGAGGCACCTTCGTGGTTGGTAAAAGGCTCCCTGCCACCATCACTACCTTTTTACCAGTGTGGCTTTCCCCTTCTATCTCTGCTTCTTGTGGTCTACCTACTACAACGTGCAACTGGTGAGCAACGCTGCCACGCCAGAGTTTAGACCCCACACCTCTCCCCTGAACTATGGCAAGAGCTGTCTCCAATCCCTCCTCCTAACCAAGGCAGCCGTGAGGAGCAGCCCTGGCACCCCAGCCTGCTGGAGATGAGTACTTGGGCCCCATCCCAGCCCTAAAACAGGAACCCATGGGTTAACAAGAGCCCCAGGTATTTTCATTTTTACGTGAATCCTCCAGTTCCCTAGTTAATCACACAGGTGCTCCTGTACCTGTCATTTGCTTTGCCTGGAATGTTCTTCCCATCTCTTAACTCCCAAATAGCCCTCTAGGGAGCCACCCCTGCCTCCACTCCCTCAAGGTAGGGCTGGGGTCCTTTCTCTTGAAGTCCTCTTGCTGGCCCCTCATAGCTTGCCATCATCTAATGTGTGGGCAACTAGACAGTTCTCCAGAGGCAGGGCCCCTGTTTCACGAATCCCTCCTTTCCCTTCAGAGGTCAACATACAGAAATTATCCAGTCATAAATGAGCTGGCTGAGAAGATTAAGTCAATGTCACAATTAGGGACTTAAACTATGCAAGGAATTGAATCTCCTGGGTATCTTGGGTTCCCCAGGGTCCTACCAAGGTTGGGGATTGTGAAGGAAATAGTGATGTAAATTAGTATACCCTGACTGCCTCTGCCAGGACAGCCAGCTCCCACATGTCCTACTCACCCCAGGTCGGTGCAGTGGAAGGGAGTGACCACATAGGCCCCACTCTGAGTTGAGGAGGAGATGAGGCCGCCCTCCCGGGCCTCCCGGACAGGGTCCACCATGGTCCGGGGCATCATATACAGCTCCTTGGAATGGTCAAAGCACCCCCTGACCTTCACTGGCCTATACTCCAGATTTTTCAGTTCCATTGGGCTGCATGGAGATAAGAACAGTGGCCGAGCAAGGTTTGGCTGGAAAACGAATCCCCTGAGGGTGGCAGACTACACAGCCCACCAGGGCCAGACAAGTGAAGGAGAAAGGCAAAGGGCGTGCTCTTCAAAGGGGAACTTTGATGCCATGTGGGAATGTGGATCTGCACTGCCAGAGTCCAACTTTACAAGAGAGGCTAAAAATCTGGACTCCTCAATGAATATTTTATGTGAAA
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AACACTGGGGGCGGGCTGTTGCAGTGATGTAAAATTTCTTGGCCTGAAATTACTGTGAAGAGTAAAACCGAGCTTTTTAACACTGAGTCAGCAGCTGAGCCCAGCAGCTTCTTGTGACTAGAGCAGGCCCTGTGAGTGCTCACAAAGTGGTTGTGTGTTCTAGGAGTTAACACCGTCACCACCTTGGTGGAGAACAAGAAAGCTCAGCTGGTGGTGATTGCACACGACGTGGATCCCATCGAGGTGCGTTTGCCTGTTGACTGCTAACCCAAGGGCTTCTGGCAGTACCAGGAAGAGAGAGTAGACCTAATGCCAAGTCAGTGATGGGACCGAAGTGGGTGAGGGCAGTACTGACACAGATCCAACACATGCGTGGCTCTTGCAATGATGTGAATCTCTCACTGAATTCAACCTTGAAGTGCGAATCCATGAGCTTTTTAACCCTGAGCAATTGTTACAAGCTAACTGAAATTTGCTGCTTTTGGTCAAAATACAGTCTTCAGCTAATGCTTTCTTCCAGCTGGTTGTCTTCTTGCCTGCCCTGTGTCGTAAAATGGGGGTCCCTTACTGCATTATCAAGGGAAAGGCAAGACTGGGACGTCTAGTCCACAGGAAGACCTGCACCACTGTCGCCTTCACACAGGTGAACTCGTAAGTACACAGCCTGGCCCCAAACTTCCCCCCAGTTCATTTAATCCATGCCTCACAGTTGTTTCCTTTTGCCTTAAAGGCCAATCTTTTAGTTTAAGAAATATATTTATCTGAACTTTTGCCAATGATGGTTAAGAATTTCTTCACCTGAATAAACCATGTGGTCAGCATTGCATCTGAGGCAAAAGACTGTCTTGAGCTAAAAGGTATTTTTGCATTCTAAAAGGGAAACTAAGGCAAAAAACCCACTTTTGTTTCCCCTCCTGCCTTTTAGGGAAGACAAAGGCGCTTTGGCTAAGCTGGTGGAAGCTATCAGGACCAATTACAATGACAGATACGATGAGGTAAGAGGCAGCTTTACACCAAAATACTGTCATTCACAAATCTTTCTCCCAAATAACTGGCTGGCTTAACCTATGAGAAGTTCTATCTGACGATCAGCTTGGAACAGCCAAACAGAATTAACGCAACTAATAACCTTGAAAATCTCAGAAAACAGTAAGCCAAGCTAACTGCCTCTTTTTGTCTTTTCAGATCCGCCGTCACTGGGGTGGCAATGTCCTGGGTCCTAAGTCTGTGGCTCGTATCGCCAAGCTCGAAAAGGCAAAGGCTAAAGAACTTGCCACTAAACTGGGTTAAATGTACACTGTTGAGTTTTCTGTACATAAAAATAATTGAAATAATACAAATTTTCCTTCAGCCAGTGTCTGTTGAGTATCTCGGGTTGAATCTTACTTGGGGTTAGCAAGTATCTTTTTGAGACACAGCCTCACTCTGTCGCCCAGGCTGGAGTGCAGTGGTGTGATGTCAAAGCAACCTTCGCCTCCCAGGTTTAGGATATTCTGGTGCCTCAGCATCCCAACTGGCTGGCCCATATTTGTGTTTTTGGTAGAGATGGGGTTTCACCATGTTAGCCAGGCTGGTCTGAGCTCCTGACCGCACCCGGCCCTTCCCACCCTTAAATACATTCTTAAACCAGGCATTTTGTTCCCTAGAGATGTAACTTGAGTATCAAGTTTTGGGAAAGTTCTTTGGACTGAAACCAAGCCAGGATTTTATGATGAACCAGTCATGAGCTCATTTAAGGTAGAAGGCCAGAACTTTATACCAGTAGCACATGATCCAGCATAAAGGCAGTCTTGAAATACTGCATTATCCAGGGACAGGGCTTCAGCAGCTGATCTGTCACACACCAGGTGTCCCACGTAGGAATTTCTTAAACCACAGGTAGGATGTAGCTGCAGAGAGTCCATACCTAGGGGTTGAAAGCAAGCCAGCATTAGCAGGCTGCTAGGCTGAAGGGGAGGAAGCCAGAGGGCCGCTGGGGACTCACCAGGTCACGATGTACTGCAGATGCTCGTTCCTCAGAGTAACTCTGGTTTGCCCTCCAATGGGTCTTCCAGGGACTGTGCTCTCTGTGGAGACAGCAGACTCAAGTCCACCCCCTACTGGCCTGCCAGCCTCTGCACCACTTCCTAGTGGCTGTCATTTTTGCGTGGCCAGTTGGAAGTCCTGTATGGCCTTTACGTTGGGTGACCATCCCCGCCCTTGTCCGCTCAGTACTTGCCTAGGTTCTTTGCTGAGTTGCTGCCTCCTCCCACCCGCCATATACACATGTGAGAACATAAGCCACAGTAGTGACTGGGCAATGAGGGTTAGGAGGAAGGACAGTATTCACAAAAGCTACTTGTTCCGAGATGGGCTGGTCCACAACGTACGGAAGTTGGCATCAATGAAGATGGGCTCTGCGCCTGTGATTCTGGCCATAGCTTCCAGGTCTCGATAATGCCAGTGGTTCCTTTCTGGATTGTTCTCAGGGACAAAAGGCTGCCTGGTTTCTGTCAGCCTCACCATCCCAATGAGGTCCACTTCTCCCTCAATCTATAAAGGAAGGTGTGTGAGATTGCATGGAGCCTGGTGGACTCCCAGAGCCTTCTCTAAAGTAGGAAGAGTCCATGTCCCTTACCTGGCCTTTCTGCCGGGTTTCAGGATTCACTTTCTTCCTGGGAACGAACCCTCTATTTACCAGGATGGTGACTCTAGGGTAATGAAAGTGCTACTTCAGGTGGGGAGGGTTTTTGACTAAAGACAGTCACTCATGGTCACTCAGGCACCCATAGGAACAACTAGAGCACCAAGGAAGGCTTTTAAAACAGGGCTGGCTCAGTGGAGCCCTGGCAGTGCCACACAGGCAAAGTCTTCCTCTCTTGAGGCACCTTCGTGGTTGGTAAAAGGCTCCCTGCCACCATCACTACCTTTTTACCAGTGTGGCTTTCCCCTTCTATCTCTGCTTCTTGTGGTCTACCTACTACAACGTGCAACTGGTGAGCAACGCTGCCACGCCAGAGTTTAGACCCCACACCTCTCCCCTGAACTATGGCAAGAGCTGTCTCCAATCCCTCCTCCTAACCAAGGCAGCCGTGAGGAGCAGCCCTGGCACCCCAGCCTGCTGGAGATGAGTACTTGGGCCCCATCCCAGCCCTAAAACAGGAACCCATGGGTTAACAAGAGCCCCAGGTATTTTCATTTTTACGTGAATCCTCCAGTTCCCTAGTTAATCACACAGGTGCTCCTGTACCTGTCATTTGCTTTGCCTGGAATGTTCTTCCCATCTCTTAACTCCCAAATAGCCCTCTAGGGAGCCACCCCTGCCTCCACTCCCTCAAGGTAGGGCTGGGGTCCTTTCTCTTGAAGTCCTCTTGCTGGCCCCTCATAGCTTGCCATCATCTAATGTGTGGGCAACTAGACAGTTCTCCAGAGGCAGGGCCCCTGTTTCACGAATCCCTCCTTTCCCTTCAGAGGTCAACATACAGAAATTATCCAGTCATAAATGAGCTGGCTGAGAAGATTAAGTCAATGTCACAATTAGGGACTTAAACTATGCAAGGAATTGAATCTCCTGGGTATCTTGGGTTCCCCAGGGTCCTACCAAGGTTGGGGATTGTGAAGGAAATAGTGATGTAAATTAGTATACCCTGACTGCCTCTGCCAGGACAGCCAGCTCCCACATGTCCTACTCACCCCAGGTCGGTGCAGTGGAAGGGAGTGACCACATAGGCCCCACTCTGAGTTGAGGAGGAGATGAGGCCGCCCTCCCGGGCCTCCCGGACAGGGTCCACCATGGTCCGGGGCATCATATACAGCTCCTTGGAATGGTCAAAGCACCCCCTGACCTTCACTGGCCTATACTCCAGATTTTTCAGTTCCATTGGGCTGCATGGAGATAAGAACAGTGGCCGAGCAAGGTTTGGCTGGAAAACGAATCCCCTGAGGGTGGCAGACTACACAGCCCACCAGGGCCAGACAAGTGAAGGAGAAAGGCAAAGGGCGTGCTCTTCAAAGGGGAACTTTGATGCCATGTGGGAATGTGGATCTGCACTGCCAGAGTCCAACTTTACAAGAGAGGCTAAAAATCTGGACTCCTCAATGAATATTTTATGTGAAA
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Task1_train_13425
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Consider this mutation in SURF1 (SURF1 cytochrome c oxidase assembly factor) on Chromosome 9. Is this a benign change or a disease-causing variant?
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Pathogenic; Mitochondrial complex IV deficiency, nuclear type 1
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ATCTCTCACTGAATTCAACCTTGAAGTGCGAATCCATGAGCTTTTTAACCCTGAGCAATTGTTACAAGCTAACTGAAATTTGCTGCTTTTGGTCAAAATACAGTCTTCAGCTAATGCTTTCTTCCAGCTGGTTGTCTTCTTGCCTGCCCTGTGTCGTAAAATGGGGGTCCCTTACTGCATTATCAAGGGAAAGGCAAGACTGGGACGTCTAGTCCACAGGAAGACCTGCACCACTGTCGCCTTCACACAGGTGAACTCGTAAGTACACAGCCTGGCCCCAAACTTCCCCCCAGTTCATTTAATCCATGCCTCACAGTTGTTTCCTTTTGCCTTAAAGGCCAATCTTTTAGTTTAAGAAATATATTTATCTGAACTTTTGCCAATGATGGTTAAGAATTTCTTCACCTGAATAAACCATGTGGTCAGCATTGCATCTGAGGCAAAAGACTGTCTTGAGCTAAAAGGTATTTTTGCATTCTAAAAGGGAAACTAAGGCAAAAAACCCACTTTTGTTTCCCCTCCTGCCTTTTAGGGAAGACAAAGGCGCTTTGGCTAAGCTGGTGGAAGCTATCAGGACCAATTACAATGACAGATACGATGAGGTAAGAGGCAGCTTTACACCAAAATACTGTCATTCACAAATCTTTCTCCCAAATAACTGGCTGGCTTAACCTATGAGAAGTTCTATCTGACGATCAGCTTGGAACAGCCAAACAGAATTAACGCAACTAATAACCTTGAAAATCTCAGAAAACAGTAAGCCAAGCTAACTGCCTCTTTTTGTCTTTTCAGATCCGCCGTCACTGGGGTGGCAATGTCCTGGGTCCTAAGTCTGTGGCTCGTATCGCCAAGCTCGAAAAGGCAAAGGCTAAAGAACTTGCCACTAAACTGGGTTAAATGTACACTGTTGAGTTTTCTGTACATAAAAATAATTGAAATAATACAAATTTTCCTTCAGCCAGTGTCTGTTGAGTATCTCGGGTTGAATCTTACTTGGGGTTAGCAAGTATCTTTTTGAGACACAGCCTCACTCTGTCGCCCAGGCTGGAGTGCAGTGGTGTGATGTCAAAGCAACCTTCGCCTCCCAGGTTTAGGATATTCTGGTGCCTCAGCATCCCAACTGGCTGGCCCATATTTGTGTTTTTGGTAGAGATGGGGTTTCACCATGTTAGCCAGGCTGGTCTGAGCTCCTGACCGCACCCGGCCCTTCCCACCCTTAAATACATTCTTAAACCAGGCATTTTGTTCCCTAGAGATGTAACTTGAGTATCAAGTTTTGGGAAAGTTCTTTGGACTGAAACCAAGCCAGGATTTTATGATGAACCAGTCATGAGCTCATTTAAGGTAGAAGGCCAGAACTTTATACCAGTAGCACATGATCCAGCATAAAGGCAGTCTTGAAATACTGCATTATCCAGGGACAGGGCTTCAGCAGCTGATCTGTCACACACCAGGTGTCCCACGTAGGAATTTCTTAAACCACAGGTAGGATGTAGCTGCAGAGAGTCCATACCTAGGGGTTGAAAGCAAGCCAGCATTAGCAGGCTGCTAGGCTGAAGGGGAGGAAGCCAGAGGGCCGCTGGGGACTCACCAGGTCACGATGTACTGCAGATGCTCGTTCCTCAGAGTAACTCTGGTTTGCCCTCCAATGGGTCCTCCAGGGACTGTGCTCTCTGTGGAGACAGCAGACTCAAGTCCACCCCCTACTGGCCTGCCAGCCTCTGCACCACTTCCTAGTGGCTGTCATTTTTGCGTGGCCAGTTGGAAGTCCTGTATGGCCTTTACGTTGGGTGACCATCCCCGCCCTTGTCCGCTCAGTACTTGCCTAGGTTCTTTGCTGAGTTGCTGCCTCCTCCCACCCGCCATATACACATGTGAGAACATAAGCCACAGTAGTGACTGGGCAATGAGGGTTAGGAGGAAGGACAGTATTCACAAAAGCTACTTGTTCCGAGATGGGCTGGTCCACAACGTACGGAAGTTGGCATCAATGAAGATGGGCTCTGCGCCTGTGATTCTGGCCATAGCTTCCAGGTCTCGATAATGCCAGTGGTTCCTTTCTGGATTGTTCTCAGGGACAAAAGGCTGCCTGGTTTCTGTCAGCCTCACCATCCCAATGAGGTCCACTTCTCCCTCAATCTATAAAGGAAGGTGTGTGAGATTGCATGGAGCCTGGTGGACTCCCAGAGCCTTCTCTAAAGTAGGAAGAGTCCATGTCCCTTACCTGGCCTTTCTGCCGGGTTTCAGGATTCACTTTCTTCCTGGGAACGAACCCTCTATTTACCAGGATGGTGACTCTAGGGTAATGAAAGTGCTACTTCAGGTGGGGAGGGTTTTTGACTAAAGACAGTCACTCATGGTCACTCAGGCACCCATAGGAACAACTAGAGCACCAAGGAAGGCTTTTAAAACAGGGCTGGCTCAGTGGAGCCCTGGCAGTGCCACACAGGCAAAGTCTTCCTCTCTTGAGGCACCTTCGTGGTTGGTAAAAGGCTCCCTGCCACCATCACTACCTTTTTACCAGTGTGGCTTTCCCCTTCTATCTCTGCTTCTTGTGGTCTACCTACTACAACGTGCAACTGGTGAGCAACGCTGCCACGCCAGAGTTTAGACCCCACACCTCTCCCCTGAACTATGGCAAGAGCTGTCTCCAATCCCTCCTCCTAACCAAGGCAGCCGTGAGGAGCAGCCCTGGCACCCCAGCCTGCTGGAGATGAGTACTTGGGCCCCATCCCAGCCCTAAAACAGGAACCCATGGGTTAACAAGAGCCCCAGGTATTTTCATTTTTACGTGAATCCTCCAGTTCCCTAGTTAATCACACAGGTGCTCCTGTACCTGTCATTTGCTTTGCCTGGAATGTTCTTCCCATCTCTTAACTCCCAAATAGCCCTCTAGGGAGCCACCCCTGCCTCCACTCCCTCAAGGTAGGGCTGGGGTCCTTTCTCTTGAAGTCCTCTTGCTGGCCCCTCATAGCTTGCCATCATCTAATGTGTGGGCAACTAGACAGTTCTCCAGAGGCAGGGCCCCTGTTTCACGAATCCCTCCTTTCCCTTCAGAGGTCAACATACAGAAATTATCCAGTCATAAATGAGCTGGCTGAGAAGATTAAGTCAATGTCACAATTAGGGACTTAAACTATGCAAGGAATTGAATCTCCTGGGTATCTTGGGTTCCCCAGGGTCCTACCAAGGTTGGGGATTGTGAAGGAAATAGTGATGTAAATTAGTATACCCTGACTGCCTCTGCCAGGACAGCCAGCTCCCACATGTCCTACTCACCCCAGGTCGGTGCAGTGGAAGGGAGTGACCACATAGGCCCCACTCTGAGTTGAGGAGGAGATGAGGCCGCCCTCCCGGGCCTCCCGGACAGGGTCCACCATGGTCCGGGGCATCATATACAGCTCCTTGGAATGGTCAAAGCACCCCCTGACCTTCACTGGCCTATACTCCAGATTTTTCAGTTCCATTGGGCTGCATGGAGATAAGAACAGTGGCCGAGCAAGGTTTGGCTGGAAAACGAATCCCCTGAGGGTGGCAGACTACACAGCCCACCAGGGCCAGACAAGTGAAGGAGAAAGGCAAAGGGCGTGCTCTTCAAAGGGGAACTTTGATGCCATGTGGGAATGTGGATCTGCACTGCCAGAGTCCAACTTTACAAGAGAGGCTAAAAATCTGGACTCCTCAATGAATATTTTATGTGAAATTTTAAAAAATATGTGGGCCAAAACCCCATCTGCAAGCCAAATCTGGCATACTGTTTGCTACCCTGAATGGAAAATGTGGCTGAATATACCTATCTCTGTAGGGCATATTCTAGGGAGAGAGCAGACAAATCATTCAGGGCACTTTTTCAAACGACCACCCTCACGGTGAGACCTACATTATCTGTCCTCAGCCACAGGGCCTTGGGCCCTGTGGAGGATAAGTTTACTATACCTGAAAAAAGGGTGACACCCAGGACTCAAAATAAGACTTTCCTCCATATGTCAGGAGGCGGTCTCAGGTAGCTTCACAAGGGCAGTCAGGTGTCAACAGCAAGCCCAACAGATGACTGATAATGAGAGCTCCCACCTGAGGTCAAGGCAGTGACTAAAAG
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ATCTCTCACTGAATTCAACCTTGAAGTGCGAATCCATGAGCTTTTTAACCCTGAGCAATTGTTACAAGCTAACTGAAATTTGCTGCTTTTGGTCAAAATACAGTCTTCAGCTAATGCTTTCTTCCAGCTGGTTGTCTTCTTGCCTGCCCTGTGTCGTAAAATGGGGGTCCCTTACTGCATTATCAAGGGAAAGGCAAGACTGGGACGTCTAGTCCACAGGAAGACCTGCACCACTGTCGCCTTCACACAGGTGAACTCGTAAGTACACAGCCTGGCCCCAAACTTCCCCCCAGTTCATTTAATCCATGCCTCACAGTTGTTTCCTTTTGCCTTAAAGGCCAATCTTTTAGTTTAAGAAATATATTTATCTGAACTTTTGCCAATGATGGTTAAGAATTTCTTCACCTGAATAAACCATGTGGTCAGCATTGCATCTGAGGCAAAAGACTGTCTTGAGCTAAAAGGTATTTTTGCATTCTAAAAGGGAAACTAAGGCAAAAAACCCACTTTTGTTTCCCCTCCTGCCTTTTAGGGAAGACAAAGGCGCTTTGGCTAAGCTGGTGGAAGCTATCAGGACCAATTACAATGACAGATACGATGAGGTAAGAGGCAGCTTTACACCAAAATACTGTCATTCACAAATCTTTCTCCCAAATAACTGGCTGGCTTAACCTATGAGAAGTTCTATCTGACGATCAGCTTGGAACAGCCAAACAGAATTAACGCAACTAATAACCTTGAAAATCTCAGAAAACAGTAAGCCAAGCTAACTGCCTCTTTTTGTCTTTTCAGATCCGCCGTCACTGGGGTGGCAATGTCCTGGGTCCTAAGTCTGTGGCTCGTATCGCCAAGCTCGAAAAGGCAAAGGCTAAAGAACTTGCCACTAAACTGGGTTAAATGTACACTGTTGAGTTTTCTGTACATAAAAATAATTGAAATAATACAAATTTTCCTTCAGCCAGTGTCTGTTGAGTATCTCGGGTTGAATCTTACTTGGGGTTAGCAAGTATCTTTTTGAGACACAGCCTCACTCTGTCGCCCAGGCTGGAGTGCAGTGGTGTGATGTCAAAGCAACCTTCGCCTCCCAGGTTTAGGATATTCTGGTGCCTCAGCATCCCAACTGGCTGGCCCATATTTGTGTTTTTGGTAGAGATGGGGTTTCACCATGTTAGCCAGGCTGGTCTGAGCTCCTGACCGCACCCGGCCCTTCCCACCCTTAAATACATTCTTAAACCAGGCATTTTGTTCCCTAGAGATGTAACTTGAGTATCAAGTTTTGGGAAAGTTCTTTGGACTGAAACCAAGCCAGGATTTTATGATGAACCAGTCATGAGCTCATTTAAGGTAGAAGGCCAGAACTTTATACCAGTAGCACATGATCCAGCATAAAGGCAGTCTTGAAATACTGCATTATCCAGGGACAGGGCTTCAGCAGCTGATCTGTCACACACCAGGTGTCCCACGTAGGAATTTCTTAAACCACAGGTAGGATGTAGCTGCAGAGAGTCCATACCTAGGGGTTGAAAGCAAGCCAGCATTAGCAGGCTGCTAGGCTGAAGGGGAGGAAGCCAGAGGGCCGCTGGGGACTCACCAGGTCACGATGTACTGCAGATGCTCGTTCCTCAGAGTAACTCTGGTTTGCCCTCCAATGGGTCCTCCAGGGACTGTGCTCTCTGTGGAGACAGCAGACTCAAGTCCACCCCCTACTGGCCTGCCAGCCTCTGCACCACTTCCTAGTGGCTGTCATTTTTGCGTGGCCAGTTGGAAGTCCTGTATGGCCTTTACGTTGGGTGACCATCCCCGCCCTTGTCCGCTCAGTACTTGCCTAGGTTCTTTGCTGAGTTGCTGCCTCCTCCCACCCGCCATATACACATGTGAGAACATAAGCCACAGTAGTGACTGGGCAATGAGGGTTAGGAGGAAGGACAGTATTCACAAAAGCTACTTGTTCCGAGATGGGCTGGTCCACAACGTACGGAAGTTGGCATCAATGAAGATGGGCTCTGCGCCTGTGATTCTGGCCATAGCTTCCAGGTCTCGATAATGCCGGTGGTTCCTTTCTGGATTGTTCTCAGGGACAAAAGGCTGCCTGGTTTCTGTCAGCCTCACCATCCCAATGAGGTCCACTTCTCCCTCAATCTATAAAGGAAGGTGTGTGAGATTGCATGGAGCCTGGTGGACTCCCAGAGCCTTCTCTAAAGTAGGAAGAGTCCATGTCCCTTACCTGGCCTTTCTGCCGGGTTTCAGGATTCACTTTCTTCCTGGGAACGAACCCTCTATTTACCAGGATGGTGACTCTAGGGTAATGAAAGTGCTACTTCAGGTGGGGAGGGTTTTTGACTAAAGACAGTCACTCATGGTCACTCAGGCACCCATAGGAACAACTAGAGCACCAAGGAAGGCTTTTAAAACAGGGCTGGCTCAGTGGAGCCCTGGCAGTGCCACACAGGCAAAGTCTTCCTCTCTTGAGGCACCTTCGTGGTTGGTAAAAGGCTCCCTGCCACCATCACTACCTTTTTACCAGTGTGGCTTTCCCCTTCTATCTCTGCTTCTTGTGGTCTACCTACTACAACGTGCAACTGGTGAGCAACGCTGCCACGCCAGAGTTTAGACCCCACACCTCTCCCCTGAACTATGGCAAGAGCTGTCTCCAATCCCTCCTCCTAACCAAGGCAGCCGTGAGGAGCAGCCCTGGCACCCCAGCCTGCTGGAGATGAGTACTTGGGCCCCATCCCAGCCCTAAAACAGGAACCCATGGGTTAACAAGAGCCCCAGGTATTTTCATTTTTACGTGAATCCTCCAGTTCCCTAGTTAATCACACAGGTGCTCCTGTACCTGTCATTTGCTTTGCCTGGAATGTTCTTCCCATCTCTTAACTCCCAAATAGCCCTCTAGGGAGCCACCCCTGCCTCCACTCCCTCAAGGTAGGGCTGGGGTCCTTTCTCTTGAAGTCCTCTTGCTGGCCCCTCATAGCTTGCCATCATCTAATGTGTGGGCAACTAGACAGTTCTCCAGAGGCAGGGCCCCTGTTTCACGAATCCCTCCTTTCCCTTCAGAGGTCAACATACAGAAATTATCCAGTCATAAATGAGCTGGCTGAGAAGATTAAGTCAATGTCACAATTAGGGACTTAAACTATGCAAGGAATTGAATCTCCTGGGTATCTTGGGTTCCCCAGGGTCCTACCAAGGTTGGGGATTGTGAAGGAAATAGTGATGTAAATTAGTATACCCTGACTGCCTCTGCCAGGACAGCCAGCTCCCACATGTCCTACTCACCCCAGGTCGGTGCAGTGGAAGGGAGTGACCACATAGGCCCCACTCTGAGTTGAGGAGGAGATGAGGCCGCCCTCCCGGGCCTCCCGGACAGGGTCCACCATGGTCCGGGGCATCATATACAGCTCCTTGGAATGGTCAAAGCACCCCCTGACCTTCACTGGCCTATACTCCAGATTTTTCAGTTCCATTGGGCTGCATGGAGATAAGAACAGTGGCCGAGCAAGGTTTGGCTGGAAAACGAATCCCCTGAGGGTGGCAGACTACACAGCCCACCAGGGCCAGACAAGTGAAGGAGAAAGGCAAAGGGCGTGCTCTTCAAAGGGGAACTTTGATGCCATGTGGGAATGTGGATCTGCACTGCCAGAGTCCAACTTTACAAGAGAGGCTAAAAATCTGGACTCCTCAATGAATATTTTATGTGAAATTTTAAAAAATATGTGGGCCAAAACCCCATCTGCAAGCCAAATCTGGCATACTGTTTGCTACCCTGAATGGAAAATGTGGCTGAATATACCTATCTCTGTAGGGCATATTCTAGGGAGAGAGCAGACAAATCATTCAGGGCACTTTTTCAAACGACCACCCTCACGGTGAGACCTACATTATCTGTCCTCAGCCACAGGGCCTTGGGCCCTGTGGAGGATAAGTTTACTATACCTGAAAAAAGGGTGACACCCAGGACTCAAAATAAGACTTTCCTCCATATGTCAGGAGGCGGTCTCAGGTAGCTTCACAAGGGCAGTCAGGTGTCAACAGCAAGCCCAACAGATGACTGATAATGAGAGCTCCCACCTGAGGTCAAGGCAGTGACTAAAAG
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Task1_train_13426
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A sequence alteration has been identified in SURF1 (SURF1 cytochrome c oxidase assembly factor) on Chromosome 9. Is it disease-inducing or harmless?
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Pathogenic; Leigh syndrome
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ATGATCCAGCATAAAGGCAGTCTTGAAATACTGCATTATCCAGGGACAGGGCTTCAGCAGCTGATCTGTCACACACCAGGTGTCCCACGTAGGAATTTCTTAAACCACAGGTAGGATGTAGCTGCAGAGAGTCCATACCTAGGGGTTGAAAGCAAGCCAGCATTAGCAGGCTGCTAGGCTGAAGGGGAGGAAGCCAGAGGGCCGCTGGGGACTCACCAGGTCACGATGTACTGCAGATGCTCGTTCCTCAGAGTAACTCTGGTTTGCCCTCCAATGGGTCCTCCAGGGACTGTGCTCTCTGTGGAGACAGCAGACTCAAGTCCACCCCCTACTGGCCTGCCAGCCTCTGCACCACTTCCTAGTGGCTGTCATTTTTGCGTGGCCAGTTGGAAGTCCTGTATGGCCTTTACGTTGGGTGACCATCCCCGCCCTTGTCCGCTCAGTACTTGCCTAGGTTCTTTGCTGAGTTGCTGCCTCCTCCCACCCGCCATATACACATGTGAGAACATAAGCCACAGTAGTGACTGGGCAATGAGGGTTAGGAGGAAGGACAGTATTCACAAAAGCTACTTGTTCCGAGATGGGCTGGTCCACAACGTACGGAAGTTGGCATCAATGAAGATGGGCTCTGCGCCTGTGATTCTGGCCATAGCTTCCAGGTCTCGATAATGCCAGTGGTTCCTTTCTGGATTGTTCTCAGGGACAAAAGGCTGCCTGGTTTCTGTCAGCCTCACCATCCCAATGAGGTCCACTTCTCCCTCAATCTATAAAGGAAGGTGTGTGAGATTGCATGGAGCCTGGTGGACTCCCAGAGCCTTCTCTAAAGTAGGAAGAGTCCATGTCCCTTACCTGGCCTTTCTGCCGGGTTTCAGGATTCACTTTCTTCCTGGGAACGAACCCTCTATTTACCAGGATGGTGACTCTAGGGTAATGAAAGTGCTACTTCAGGTGGGGAGGGTTTTTGACTAAAGACAGTCACTCATGGTCACTCAGGCACCCATAGGAACAACTAGAGCACCAAGGAAGGCTTTTAAAACAGGGCTGGCTCAGTGGAGCCCTGGCAGTGCCACACAGGCAAAGTCTTCCTCTCTTGAGGCACCTTCGTGGTTGGTAAAAGGCTCCCTGCCACCATCACTACCTTTTTACCAGTGTGGCTTTCCCCTTCTATCTCTGCTTCTTGTGGTCTACCTACTACAACGTGCAACTGGTGAGCAACGCTGCCACGCCAGAGTTTAGACCCCACACCTCTCCCCTGAACTATGGCAAGAGCTGTCTCCAATCCCTCCTCCTAACCAAGGCAGCCGTGAGGAGCAGCCCTGGCACCCCAGCCTGCTGGAGATGAGTACTTGGGCCCCATCCCAGCCCTAAAACAGGAACCCATGGGTTAACAAGAGCCCCAGGTATTTTCATTTTTACGTGAATCCTCCAGTTCCCTAGTTAATCACACAGGTGCTCCTGTACCTGTCATTTGCTTTGCCTGGAATGTTCTTCCCATCTCTTAACTCCCAAATAGCCCTCTAGGGAGCCACCCCTGCCTCCACTCCCTCAAGGTAGGGCTGGGGTCCTTTCTCTTGAAGTCCTCTTGCTGGCCCCTCATAGCTTGCCATCATCTAATGTGTGGGCAACTAGACAGTTCTCCAGAGGCAGGGCCCCTGTTTCACGAATCCCTCCTTTCCCTTCAGAGGTCAACATACAGAAATTATCCAGTCATAAATGAGCTGGCTGAGAAGATTAAGTCAATGTCACAATTAGGGACTTAAACTATGCAAGGAATTGAATCTCCTGGGTATCTTGGGTTCCCCAGGGTCCTACCAAGGTTGGGGATTGTGAAGGAAATAGTGATGTAAATTAGTATACCCTGACTGCCTCTGCCAGGACAGCCAGCTCCCACATGTCCTACTCACCCCAGGTCGGTGCAGTGGAAGGGAGTGACCACATAGGCCCCACTCTGAGTTGAGGAGGAGATGAGGCCGCCCTCCCGGGCCTCCCGGACAGGGTCCACCATGGTCCGGGGCATCATATACAGCTCCTTGGAATGGTCAAAGCACCCCCTGACCTTCACTGGCCTATACTCCAGATTTTTCAGTTCCATTGGGCTGCATGGAGATAAGAACAGTGGCCGAGCAAGGTTTGGCTGGAAAACGAATCCCCTGAGGGTGGCAGACTACACAGCCCACCAGGGCCAGACAAGTGAAGGAGAAAGGCAAAGGGCGTGCTCTTCAAAGGGGAACTTTGATGCCATGTGGGAATGTGGATCTGCACTGCCAGAGTCCAACTTTACAAGAGAGGCTAAAAATCTGGACTCCTCAATGAATATTTTATGTGAAATTTTAAAAAATATGTGGGCCAAAACCCCATCTGCAAGCCAAATCTGGCATACTGTTTGCTACCCTGAATGGAAAATGTGGCTGAATATACCTATCTCTGTAGGGCATATTCTAGGGAGAGAGCAGACAAATCATTCAGGGCACTTTTTCAAACGACCACCCTCACGGTGAGACCTACATTATCTGTCCTCAGCCACAGGGCCTTGGGCCCTGTGGAGGATAAGTTTACTATACCTGAAAAAAGGGTGACACCCAGGACTCAAAATAAGACTTTCCTCCATATGTCAGGAGGCGGTCTCAGGTAGCTTCACAAGGGCAGTCAGGTGTCAACAGCAAGCCCAACAGATGACTGATAATGAGAGCTCCCACCTGAGGTCAAGGCAGTGACTAAAAGTCCCACCAAAAGGGGCAAGCTGGCCAGCAGAAGCCAGGGCTCTGCTGTTGAACTCAAGTAAAACAGGCCCTAGGGGGGCAGCCATGCACTCACTCGGCTGGCAGAGGGACAGGCTCAGCCAGAACTCTGGACTCCAACTCTGCAATCAGGTTCAGCTTCCACTTCCGACGCTGGACCTACAGTGACAGAGCATAAGGCCAAGCAGATGGCAGCAAGGTCAAGGGCCCAGAGTTACGCACACCAGATGCCGGTCTTTACCTGCCATGTCCCCAAGCCAAAGGCAGTCACAGGGATGAGGAGCAGGACCCACTGAAGAAAGGAGTCATCTTCCGCTTTTGTGGCAGATGCTTCTGCTGCAGAACTGCCACATCTGCTTGGCCTCCAGGCCACCCCTGGAGAGTTTCACAACACTGACATGGAGCCAGAAGCCCTCGAACACAGACCTGGAGCAGCCCGTTCCAAGACAGACTCCAGTACTGCCAATCAAAACCTGCTGCCTAGAGCCAACTAGCAGCACCTGTATCCAGCCCAGCTCCTAACCCGGTGCCCAGAACAAGGCACACACAGTACGTCTGCCAAGTGAGTAAGTGGGATCTAGGGCTCAGTGCCGGTTTGACCACCAACCACGACCCTGAGTAACTCATGCCTTTTTACTCAAGAATCTAGATGTATTCCACTGCACTAAGATGCACCATTCATCCATTCAAAATGCATTTAATAAGCAGCTACAGTTGGCCGGGCACGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGCGGGCGGATCACGAGATCAGGAGTTCGAGACCAGCCTGACCAACATGCAGAAACCCCATCTCTACAAAAAAATGCAAAAATTAGCTGAGCACGATGGTGCTTCTGTAATCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATCGCTTGAACCTGGGAGGAGGTGGTTGCTGTAAGCCGAGATTGCGCCACTGCACTCCAGCCTGGGCAACAAGAGCGAAACTGTCTCAAAAAATAAAAAATAAGCAGCTACAGTTACTAAGTAGCTTAGTCAGGCACTAGTGGTTGTTGTGTTATGTAGAAAAATATATCAATTCAGTAATGGCTCACAGAGCTCTCTTAACAGCTTTCCATTTTTACAACTCATCGTAAATGTAAAGAGGGAAGAATGTACACAGAAAGTGCCTTTAAGCTCTCAGAGGATGAGTTCCATCCGCTGAAAAGCACCAGGGGCCTTGCGGATACTATTTTTTTTTTTTTTTTTATAAAAAGGCAGGCCTGGGGCAGGCTTGCACAGCACTCTACACACGGCAAAACAGCCCTGTGCTGCACACTGAGAGGAACACGTAAGCCGCGGTGGTTAGATACGCTTT
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ATGATCCAGCATAAAGGCAGTCTTGAAATACTGCATTATCCAGGGACAGGGCTTCAGCAGCTGATCTGTCACACACCAGGTGTCCCACGTAGGAATTTCTTAAACCACAGGTAGGATGTAGCTGCAGAGAGTCCATACCTAGGGGTTGAAAGCAAGCCAGCATTAGCAGGCTGCTAGGCTGAAGGGGAGGAAGCCAGAGGGCCGCTGGGGACTCACCAGGTCACGATGTACTGCAGATGCTCGTTCCTCAGAGTAACTCTGGTTTGCCCTCCAATGGGTCCTCCAGGGACTGTGCTCTCTGTGGAGACAGCAGACTCAAGTCCACCCCCTACTGGCCTGCCAGCCTCTGCACCACTTCCTAGTGGCTGTCATTTTTGCGTGGCCAGTTGGAAGTCCTGTATGGCCTTTACGTTGGGTGACCATCCCCGCCCTTGTCCGCTCAGTACTTGCCTAGGTTCTTTGCTGAGTTGCTGCCTCCTCCCACCCGCCATATACACATGTGAGAACATAAGCCACAGTAGTGACTGGGCAATGAGGGTTAGGAGGAAGGACAGTATTCACAAAAGCTACTTGTTCCGAGATGGGCTGGTCCACAACGTACGGAAGTTGGCATCAATGAAGATGGGCTCTGCGCCTGTGATTCTGGCCATAGCTTCCAGGTCTCGATAATGCCAGTGGTTCCTTTCTGGATTGTTCTCAGGGACAAAAGGCTGCCTGGTTTCTGTCAGCCTCACCATCCCAATGAGGTCCACTTCTCCCTCAATCTATAAAGGAAGGTGTGTGAGATTGCATGGAGCCTGGTGGACTCCCAGAGCCTTCTCTAAAGTAGGAAGAGTCCATGTCCCTTACCTGGCCTTTCTGCCGGGTTTCAGGATTCACTTTCTTCCTGGGAACGAACCCTCTATTTACCAGGATGGTGACTCTAGGGTAATGAAAGTGCTACTTCAGGTGGGGAGGGTTTTTGACTAAAGACAGTCACTCATGGTCACTCAGGCACCCATAGGAACAACTAGAGCACCAAGGAAGGCTTTTAAAACAGGGCTGGCTCAGTGGAGCCCTGGCAGTGCCACACAGGCAAAGTCTTCCTCTCTTGAGGCACCTTCGTGGTTGGTAAAAGGCTCCCTGCCACCATCACTACCTTTTTACCAGTGTGGCTTTCCCCTTCTATCTCTGCTTCTTGTGGTCTACCTACTACAACGTGCAACTGGTGAGCAACGCTGCCACGCCAGAGTTTAGACCCCACACCTCTCCCCTGAACTATGGCAAGAGCTGTCTCCAATCCCTCCTCCTAACCAAGGCAGCCGTGAGGAGCAGCCCTGGCACCCCAGCCTGCTGGAGATGAGTACTTGGGCCCCATCCCAGCCCTAAAACAGGAACCCATGGGTTAACAAGAGCCCCAGGTATTTTCATTTTTACGTGAATCCTCCAGTTCCCTAGTTAATCACACAGGTGCTCCTGTACCTGTCATTTGCTTTGCCTGGAATGTTCTTCCCATCTCTTAACTCCCAAATAGCCCTCTAGGGAGCCACCCCTGCCTCCACTCCCTCAAGGTAGGGCTGGGGTCCTTTCTCTTGAAGTCCTCTTGCTGGCCCCTCATAGCTTGCCATCATCTAATGTGTGGGCAACTAGACAGTTCTCCAGAGGCAGGGCCCCTGTTTCACGAATCCCTCCTTTCCCTTCAGAGGTCAACATACAGAAATTATCCAGTCATAAATGAGCTGGCTGAGAAGATTAAGTCAATGTCACAATTAGGGACTTAAACTATGCAAGGAATTGAATCTCCTGGGTATCTTGGGTTCCCCAGGGTCCTACCAAGGTTGGGGATTGTGAAGGAAATAGTGATGTAAATTAGTATACCCTGACTGCCTCTGCCAGGACAGCCAGCTCCCACATGTCCTACTCACCCCAGGTCGGTGCAGTGGAAGGGAGTGACCACATAGGCCCCACTCTGAGTTGAGGAGGAGATGAGGCCGCCCTCCCGGGCCTCCCGGACAGGGTCCACCATGGTCCGGGGCATCATATACAGCTCCTTGGAATGGTCAAAGCACTCCCTGACCTTCACTGGCCTATACTCCAGATTTTTCAGTTCCATTGGGCTGCATGGAGATAAGAACAGTGGCCGAGCAAGGTTTGGCTGGAAAACGAATCCCCTGAGGGTGGCAGACTACACAGCCCACCAGGGCCAGACAAGTGAAGGAGAAAGGCAAAGGGCGTGCTCTTCAAAGGGGAACTTTGATGCCATGTGGGAATGTGGATCTGCACTGCCAGAGTCCAACTTTACAAGAGAGGCTAAAAATCTGGACTCCTCAATGAATATTTTATGTGAAATTTTAAAAAATATGTGGGCCAAAACCCCATCTGCAAGCCAAATCTGGCATACTGTTTGCTACCCTGAATGGAAAATGTGGCTGAATATACCTATCTCTGTAGGGCATATTCTAGGGAGAGAGCAGACAAATCATTCAGGGCACTTTTTCAAACGACCACCCTCACGGTGAGACCTACATTATCTGTCCTCAGCCACAGGGCCTTGGGCCCTGTGGAGGATAAGTTTACTATACCTGAAAAAAGGGTGACACCCAGGACTCAAAATAAGACTTTCCTCCATATGTCAGGAGGCGGTCTCAGGTAGCTTCACAAGGGCAGTCAGGTGTCAACAGCAAGCCCAACAGATGACTGATAATGAGAGCTCCCACCTGAGGTCAAGGCAGTGACTAAAAGTCCCACCAAAAGGGGCAAGCTGGCCAGCAGAAGCCAGGGCTCTGCTGTTGAACTCAAGTAAAACAGGCCCTAGGGGGGCAGCCATGCACTCACTCGGCTGGCAGAGGGACAGGCTCAGCCAGAACTCTGGACTCCAACTCTGCAATCAGGTTCAGCTTCCACTTCCGACGCTGGACCTACAGTGACAGAGCATAAGGCCAAGCAGATGGCAGCAAGGTCAAGGGCCCAGAGTTACGCACACCAGATGCCGGTCTTTACCTGCCATGTCCCCAAGCCAAAGGCAGTCACAGGGATGAGGAGCAGGACCCACTGAAGAAAGGAGTCATCTTCCGCTTTTGTGGCAGATGCTTCTGCTGCAGAACTGCCACATCTGCTTGGCCTCCAGGCCACCCCTGGAGAGTTTCACAACACTGACATGGAGCCAGAAGCCCTCGAACACAGACCTGGAGCAGCCCGTTCCAAGACAGACTCCAGTACTGCCAATCAAAACCTGCTGCCTAGAGCCAACTAGCAGCACCTGTATCCAGCCCAGCTCCTAACCCGGTGCCCAGAACAAGGCACACACAGTACGTCTGCCAAGTGAGTAAGTGGGATCTAGGGCTCAGTGCCGGTTTGACCACCAACCACGACCCTGAGTAACTCATGCCTTTTTACTCAAGAATCTAGATGTATTCCACTGCACTAAGATGCACCATTCATCCATTCAAAATGCATTTAATAAGCAGCTACAGTTGGCCGGGCACGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGCGGGCGGATCACGAGATCAGGAGTTCGAGACCAGCCTGACCAACATGCAGAAACCCCATCTCTACAAAAAAATGCAAAAATTAGCTGAGCACGATGGTGCTTCTGTAATCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATCGCTTGAACCTGGGAGGAGGTGGTTGCTGTAAGCCGAGATTGCGCCACTGCACTCCAGCCTGGGCAACAAGAGCGAAACTGTCTCAAAAAATAAAAAATAAGCAGCTACAGTTACTAAGTAGCTTAGTCAGGCACTAGTGGTTGTTGTGTTATGTAGAAAAATATATCAATTCAGTAATGGCTCACAGAGCTCTCTTAACAGCTTTCCATTTTTACAACTCATCGTAAATGTAAAGAGGGAAGAATGTACACAGAAAGTGCCTTTAAGCTCTCAGAGGATGAGTTCCATCCGCTGAAAAGCACCAGGGGCCTTGCGGATACTATTTTTTTTTTTTTTTTTATAAAAAGGCAGGCCTGGGGCAGGCTTGCACAGCACTCTACACACGGCAAAACAGCCCTGTGCTGCACACTGAGAGGAACACGTAAGCCGCGGTGGTTAGATACGCTTT
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Task1_train_13427
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A change on Chromosome 9 affects gene SURF1 (SURF1 cytochrome c oxidase assembly factor). Identify whether the variant is neutral or disease-linked. Mention the disease if applicable.
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Pathogenic; not provided
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AGGAAGGTGTGTGAGATTGCATGGAGCCTGGTGGACTCCCAGAGCCTTCTCTAAAGTAGGAAGAGTCCATGTCCCTTACCTGGCCTTTCTGCCGGGTTTCAGGATTCACTTTCTTCCTGGGAACGAACCCTCTATTTACCAGGATGGTGACTCTAGGGTAATGAAAGTGCTACTTCAGGTGGGGAGGGTTTTTGACTAAAGACAGTCACTCATGGTCACTCAGGCACCCATAGGAACAACTAGAGCACCAAGGAAGGCTTTTAAAACAGGGCTGGCTCAGTGGAGCCCTGGCAGTGCCACACAGGCAAAGTCTTCCTCTCTTGAGGCACCTTCGTGGTTGGTAAAAGGCTCCCTGCCACCATCACTACCTTTTTACCAGTGTGGCTTTCCCCTTCTATCTCTGCTTCTTGTGGTCTACCTACTACAACGTGCAACTGGTGAGCAACGCTGCCACGCCAGAGTTTAGACCCCACACCTCTCCCCTGAACTATGGCAAGAGCTGTCTCCAATCCCTCCTCCTAACCAAGGCAGCCGTGAGGAGCAGCCCTGGCACCCCAGCCTGCTGGAGATGAGTACTTGGGCCCCATCCCAGCCCTAAAACAGGAACCCATGGGTTAACAAGAGCCCCAGGTATTTTCATTTTTACGTGAATCCTCCAGTTCCCTAGTTAATCACACAGGTGCTCCTGTACCTGTCATTTGCTTTGCCTGGAATGTTCTTCCCATCTCTTAACTCCCAAATAGCCCTCTAGGGAGCCACCCCTGCCTCCACTCCCTCAAGGTAGGGCTGGGGTCCTTTCTCTTGAAGTCCTCTTGCTGGCCCCTCATAGCTTGCCATCATCTAATGTGTGGGCAACTAGACAGTTCTCCAGAGGCAGGGCCCCTGTTTCACGAATCCCTCCTTTCCCTTCAGAGGTCAACATACAGAAATTATCCAGTCATAAATGAGCTGGCTGAGAAGATTAAGTCAATGTCACAATTAGGGACTTAAACTATGCAAGGAATTGAATCTCCTGGGTATCTTGGGTTCCCCAGGGTCCTACCAAGGTTGGGGATTGTGAAGGAAATAGTGATGTAAATTAGTATACCCTGACTGCCTCTGCCAGGACAGCCAGCTCCCACATGTCCTACTCACCCCAGGTCGGTGCAGTGGAAGGGAGTGACCACATAGGCCCCACTCTGAGTTGAGGAGGAGATGAGGCCGCCCTCCCGGGCCTCCCGGACAGGGTCCACCATGGTCCGGGGCATCATATACAGCTCCTTGGAATGGTCAAAGCACCCCCTGACCTTCACTGGCCTATACTCCAGATTTTTCAGTTCCATTGGGCTGCATGGAGATAAGAACAGTGGCCGAGCAAGGTTTGGCTGGAAAACGAATCCCCTGAGGGTGGCAGACTACACAGCCCACCAGGGCCAGACAAGTGAAGGAGAAAGGCAAAGGGCGTGCTCTTCAAAGGGGAACTTTGATGCCATGTGGGAATGTGGATCTGCACTGCCAGAGTCCAACTTTACAAGAGAGGCTAAAAATCTGGACTCCTCAATGAATATTTTATGTGAAATTTTAAAAAATATGTGGGCCAAAACCCCATCTGCAAGCCAAATCTGGCATACTGTTTGCTACCCTGAATGGAAAATGTGGCTGAATATACCTATCTCTGTAGGGCATATTCTAGGGAGAGAGCAGACAAATCATTCAGGGCACTTTTTCAAACGACCACCCTCACGGTGAGACCTACATTATCTGTCCTCAGCCACAGGGCCTTGGGCCCTGTGGAGGATAAGTTTACTATACCTGAAAAAAGGGTGACACCCAGGACTCAAAATAAGACTTTCCTCCATATGTCAGGAGGCGGTCTCAGGTAGCTTCACAAGGGCAGTCAGGTGTCAACAGCAAGCCCAACAGATGACTGATAATGAGAGCTCCCACCTGAGGTCAAGGCAGTGACTAAAAGTCCCACCAAAAGGGGCAAGCTGGCCAGCAGAAGCCAGGGCTCTGCTGTTGAACTCAAGTAAAACAGGCCCTAGGGGGGCAGCCATGCACTCACTCGGCTGGCAGAGGGACAGGCTCAGCCAGAACTCTGGACTCCAACTCTGCAATCAGGTTCAGCTTCCACTTCCGACGCTGGACCTACAGTGACAGAGCATAAGGCCAAGCAGATGGCAGCAAGGTCAAGGGCCCAGAGTTACGCACACCAGATGCCGGTCTTTACCTGCCATGTCCCCAAGCCAAAGGCAGTCACAGGGATGAGGAGCAGGACCCACTGAAGAAAGGAGTCATCTTCCGCTTTTGTGGCAGATGCTTCTGCTGCAGAACTGCCACATCTGCTTGGCCTCCAGGCCACCCCTGGAGAGTTTCACAACACTGACATGGAGCCAGAAGCCCTCGAACACAGACCTGGAGCAGCCCGTTCCAAGACAGACTCCAGTACTGCCAATCAAAACCTGCTGCCTAGAGCCAACTAGCAGCACCTGTATCCAGCCCAGCTCCTAACCCGGTGCCCAGAACAAGGCACACACAGTACGTCTGCCAAGTGAGTAAGTGGGATCTAGGGCTCAGTGCCGGTTTGACCACCAACCACGACCCTGAGTAACTCATGCCTTTTTACTCAAGAATCTAGATGTATTCCACTGCACTAAGATGCACCATTCATCCATTCAAAATGCATTTAATAAGCAGCTACAGTTGGCCGGGCACGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGCGGGCGGATCACGAGATCAGGAGTTCGAGACCAGCCTGACCAACATGCAGAAACCCCATCTCTACAAAAAAATGCAAAAATTAGCTGAGCACGATGGTGCTTCTGTAATCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATCGCTTGAACCTGGGAGGAGGTGGTTGCTGTAAGCCGAGATTGCGCCACTGCACTCCAGCCTGGGCAACAAGAGCGAAACTGTCTCAAAAAATAAAAAATAAGCAGCTACAGTTACTAAGTAGCTTAGTCAGGCACTAGTGGTTGTTGTGTTATGTAGAAAAATATATCAATTCAGTAATGGCTCACAGAGCTCTCTTAACAGCTTTCCATTTTTACAACTCATCGTAAATGTAAAGAGGGAAGAATGTACACAGAAAGTGCCTTTAAGCTCTCAGAGGATGAGTTCCATCCGCTGAAAAGCACCAGGGGCCTTGCGGATACTATTTTTTTTTTTTTTTTTATAAAAAGGCAGGCCTGGGGCAGGCTTGCACAGCACTCTACACACGGCAAAACAGCCCTGTGCTGCACACTGAGAGGAACACGTAAGCCGCGGTGGTTAGATACGCTTTACTTTCAGAGCCCTGGGCTTTCAGCCTGGGCTGGCCACCCATTAGCTGGATGGGACGTTCGGAAGTAACTCTCGAGCCTTCTCTGTAACAGGGGAACGACCAAGGAGCTACCTCTCGCGTTGTGAGGACAAAGCGCTCGCTACATGCCCGGCACACGACCACAATTCCACTGAAAGCATTTTAATACGGAACTTGTCACTCCCAGGGAGCCTCCGCTCAGCCGGCAGTTGGTTCATTTCAATCCCCACGACAACCCTTCAAAGTGCAGGGCAGACAGCAGGTGGCTCTGCCCAGGCGCCTGGATCACAGCCCGGCCTGCAGCCCTCACCTGGGCGCGGGGAGACCCTGAGGACGCTCCTCCAGGCGGCGCTGGCCGGGGCCTGCGGACACGGACGGGCGGGCTGAGCTCCGGGACCCCTCCCCGCGCCCCGCACCCCGCACCCCGCACCCGGCGCTCACCCGTCCCAGCCCCGCCGCCCGCAGCCCCAGCTGCAACGCAGCCACCGCCGCCATCGCACCCGGCCCCGCGGGCGCTTCCGGGACGCAGGAAGCATCTGCATCCGGGGCGCCGCTGAGTCCCGCCCAGAGCCCCGCCCCCGGCTCCAGGTTCTGCGAGCGGCTTCCGCCGGGCTGCTCCGCGGGCGCGTCGGCCATGAGCGAGTTGCCGGGCGACGTGCGGGCGTTTCTGCGGGAGCACCCGAGCCTGCGGCTCCAGACGGACGCCCGCAAGGTTCGCAGCGCGGGAGGGGAACGGAGTGGCGGAGAAGGGC
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AGGAAGGTGTGTGAGATTGCATGGAGCCTGGTGGACTCCCAGAGCCTTCTCTAAAGTAGGAAGAGTCCATGTCCCTTACCTGGCCTTTCTGCCGGGTTTCAGGATTCACTTTCTTCCTGGGAACGAACCCTCTATTTACCAGGATGGTGACTCTAGGGTAATGAAAGTGCTACTTCAGGTGGGGAGGGTTTTTGACTAAAGACAGTCACTCATGGTCACTCAGGCACCCATAGGAACAACTAGAGCACCAAGGAAGGCTTTTAAAACAGGGCTGGCTCAGTGGAGCCCTGGCAGTGCCACACAGGCAAAGTCTTCCTCTCTTGAGGCACCTTCGTGGTTGGTAAAAGGCTCCCTGCCACCATCACTACCTTTTTACCAGTGTGGCTTTCCCCTTCTATCTCTGCTTCTTGTGGTCTACCTACTACAACGTGCAACTGGTGAGCAACGCTGCCACGCCAGAGTTTAGACCCCACACCTCTCCCCTGAACTATGGCAAGAGCTGTCTCCAATCCCTCCTCCTAACCAAGGCAGCCGTGAGGAGCAGCCCTGGCACCCCAGCCTGCTGGAGATGAGTACTTGGGCCCCATCCCAGCCCTAAAACAGGAACCCATGGGTTAACAAGAGCCCCAGGTATTTTCATTTTTACGTGAATCCTCCAGTTCCCTAGTTAATCACACAGGTGCTCCTGTACCTGTCATTTGCTTTGCCTGGAATGTTCTTCCCATCTCTTAACTCCCAAATAGCCCTCTAGGGAGCCACCCCTGCCTCCACTCCCTCAAGGTAGGGCTGGGGTCCTTTCTCTTGAAGTCCTCTTGCTGGCCCCTCATAGCTTGCCATCATCTAATGTGTGGGCAACTAGACAGTTCTCCAGAGGCAGGGCCCCTGTTTCACGAATCCCTCCTTTCCCTTCAGAGGTCAACATACAGAAATTATCCAGTCATAAATGAGCTGGCTGAGAAGATTAAGTCAATGTCACAATTAGGGACTTAAACTATGCAAGGAATTGAATCTCCTGGGTATCTTGGGTTCCCCAGGGTCCTACCAAGGTTGGGGATTGTGAAGGAAATAGTGATGTAAATTAGTATACCCTGACTGCCTCTGCCAGGACAGCCAGCTCCCACATGTCCTACTCACCCCAGGTCGGTGCAGTGGAAGGGAGTGACCACATAGGCCCCACTCTGAGTTGAGGAGGAGATGAGGCCGCCCTCCCGGGCCTCCCGGACAGGGTCCACCATGGTCCGGGGCATCATATACAGCTCCTTGGAATGGTCAAAGCACCCCCTGACCTTCACTGGCCTATACTCCAGATTTTTCAGTTCCATTGGGCTGCATGGAGATAAGAACAGTGGCCGAGCAAGGTTTGGCTGGAAAACGAATCCCCTGAGGGTGGCAGACTACACAGCCCACCAGGGCCAGACAAGTGAAGGAGAAAGGCAAAGGGCGTGCTCTTCAAAGGGGAACTTTGATGCCATGTGGGAATGTGGATCTGCACTGCCAGAGTCCAACTTTACAAGAGAGGCTAAAAATCTGGACTCCTCAATGAATATTTTATGTGAAATTTTAAAAAATATGTGGGCCAAAACCCCATCTGCAAGCCAAATCTGGCATACTGTTTGCTACCCTGAATGGAAAATGTGGCTGAATATACCTATCTCTGTAGGGCATATTCTAGGGAGAGAGCAGACAAATCATTCAGGGCACTTTTTCAAACGACCACCCTCACGGTGAGACCTACATTATCTGTCCTCAGCCACAGGGCCTTGGGCCCTGTGGAGGATAAGTTTACTATACCTGAAAAAAGGGTGACACCCAGGACTCAAAATAAGACTTTCCTCCATATGTCAGGAGGCGGTCTCAGGTAGCTTCACAAGGGCAGTCAGGTGTCAACAGCAAGCCCAACAGATGACTGATAATGAGAGCTCCCACCTGAGGTCAAGGCAGTGACTAAAAGTCCCACCAAAAGGGGCAAGCTGGCCAGCAGAAGCCAGGGCTCTGCTGTTGAACTCAAGTAAAACAGGCCCTAGGGGGGCAGCCATGCACTCACTCGGATGGCAGAGGGACAGGCTCAGCCAGAACTCTGGACTCCAACTCTGCAATCAGGTTCAGCTTCCACTTCCGACGCTGGACCTACAGTGACAGAGCATAAGGCCAAGCAGATGGCAGCAAGGTCAAGGGCCCAGAGTTACGCACACCAGATGCCGGTCTTTACCTGCCATGTCCCCAAGCCAAAGGCAGTCACAGGGATGAGGAGCAGGACCCACTGAAGAAAGGAGTCATCTTCCGCTTTTGTGGCAGATGCTTCTGCTGCAGAACTGCCACATCTGCTTGGCCTCCAGGCCACCCCTGGAGAGTTTCACAACACTGACATGGAGCCAGAAGCCCTCGAACACAGACCTGGAGCAGCCCGTTCCAAGACAGACTCCAGTACTGCCAATCAAAACCTGCTGCCTAGAGCCAACTAGCAGCACCTGTATCCAGCCCAGCTCCTAACCCGGTGCCCAGAACAAGGCACACACAGTACGTCTGCCAAGTGAGTAAGTGGGATCTAGGGCTCAGTGCCGGTTTGACCACCAACCACGACCCTGAGTAACTCATGCCTTTTTACTCAAGAATCTAGATGTATTCCACTGCACTAAGATGCACCATTCATCCATTCAAAATGCATTTAATAAGCAGCTACAGTTGGCCGGGCACGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGCGGGCGGATCACGAGATCAGGAGTTCGAGACCAGCCTGACCAACATGCAGAAACCCCATCTCTACAAAAAAATGCAAAAATTAGCTGAGCACGATGGTGCTTCTGTAATCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATCGCTTGAACCTGGGAGGAGGTGGTTGCTGTAAGCCGAGATTGCGCCACTGCACTCCAGCCTGGGCAACAAGAGCGAAACTGTCTCAAAAAATAAAAAATAAGCAGCTACAGTTACTAAGTAGCTTAGTCAGGCACTAGTGGTTGTTGTGTTATGTAGAAAAATATATCAATTCAGTAATGGCTCACAGAGCTCTCTTAACAGCTTTCCATTTTTACAACTCATCGTAAATGTAAAGAGGGAAGAATGTACACAGAAAGTGCCTTTAAGCTCTCAGAGGATGAGTTCCATCCGCTGAAAAGCACCAGGGGCCTTGCGGATACTATTTTTTTTTTTTTTTTTATAAAAAGGCAGGCCTGGGGCAGGCTTGCACAGCACTCTACACACGGCAAAACAGCCCTGTGCTGCACACTGAGAGGAACACGTAAGCCGCGGTGGTTAGATACGCTTTACTTTCAGAGCCCTGGGCTTTCAGCCTGGGCTGGCCACCCATTAGCTGGATGGGACGTTCGGAAGTAACTCTCGAGCCTTCTCTGTAACAGGGGAACGACCAAGGAGCTACCTCTCGCGTTGTGAGGACAAAGCGCTCGCTACATGCCCGGCACACGACCACAATTCCACTGAAAGCATTTTAATACGGAACTTGTCACTCCCAGGGAGCCTCCGCTCAGCCGGCAGTTGGTTCATTTCAATCCCCACGACAACCCTTCAAAGTGCAGGGCAGACAGCAGGTGGCTCTGCCCAGGCGCCTGGATCACAGCCCGGCCTGCAGCCCTCACCTGGGCGCGGGGAGACCCTGAGGACGCTCCTCCAGGCGGCGCTGGCCGGGGCCTGCGGACACGGACGGGCGGGCTGAGCTCCGGGACCCCTCCCCGCGCCCCGCACCCCGCACCCCGCACCCGGCGCTCACCCGTCCCAGCCCCGCCGCCCGCAGCCCCAGCTGCAACGCAGCCACCGCCGCCATCGCACCCGGCCCCGCGGGCGCTTCCGGGACGCAGGAAGCATCTGCATCCGGGGCGCCGCTGAGTCCCGCCCAGAGCCCCGCCCCCGGCTCCAGGTTCTGCGAGCGGCTTCCGCCGGGCTGCTCCGCGGGCGCGTCGGCCATGAGCGAGTTGCCGGGCGACGTGCGGGCGTTTCTGCGGGAGCACCCGAGCCTGCGGCTCCAGACGGACGCCCGCAAGGTTCGCAGCGCGGGAGGGGAACGGAGTGGCGGAGAAGGGC
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Task1_train_13428
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The following genetic variant occurs in SURF1 (SURF1 cytochrome c oxidase assembly factor) on Chromosome 9. Classify its clinical effect — pathogenic or benign — and list any associated condition.
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Pathogenic; Inborn genetic diseases
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CTAAAGTAGGAAGAGTCCATGTCCCTTACCTGGCCTTTCTGCCGGGTTTCAGGATTCACTTTCTTCCTGGGAACGAACCCTCTATTTACCAGGATGGTGACTCTAGGGTAATGAAAGTGCTACTTCAGGTGGGGAGGGTTTTTGACTAAAGACAGTCACTCATGGTCACTCAGGCACCCATAGGAACAACTAGAGCACCAAGGAAGGCTTTTAAAACAGGGCTGGCTCAGTGGAGCCCTGGCAGTGCCACACAGGCAAAGTCTTCCTCTCTTGAGGCACCTTCGTGGTTGGTAAAAGGCTCCCTGCCACCATCACTACCTTTTTACCAGTGTGGCTTTCCCCTTCTATCTCTGCTTCTTGTGGTCTACCTACTACAACGTGCAACTGGTGAGCAACGCTGCCACGCCAGAGTTTAGACCCCACACCTCTCCCCTGAACTATGGCAAGAGCTGTCTCCAATCCCTCCTCCTAACCAAGGCAGCCGTGAGGAGCAGCCCTGGCACCCCAGCCTGCTGGAGATGAGTACTTGGGCCCCATCCCAGCCCTAAAACAGGAACCCATGGGTTAACAAGAGCCCCAGGTATTTTCATTTTTACGTGAATCCTCCAGTTCCCTAGTTAATCACACAGGTGCTCCTGTACCTGTCATTTGCTTTGCCTGGAATGTTCTTCCCATCTCTTAACTCCCAAATAGCCCTCTAGGGAGCCACCCCTGCCTCCACTCCCTCAAGGTAGGGCTGGGGTCCTTTCTCTTGAAGTCCTCTTGCTGGCCCCTCATAGCTTGCCATCATCTAATGTGTGGGCAACTAGACAGTTCTCCAGAGGCAGGGCCCCTGTTTCACGAATCCCTCCTTTCCCTTCAGAGGTCAACATACAGAAATTATCCAGTCATAAATGAGCTGGCTGAGAAGATTAAGTCAATGTCACAATTAGGGACTTAAACTATGCAAGGAATTGAATCTCCTGGGTATCTTGGGTTCCCCAGGGTCCTACCAAGGTTGGGGATTGTGAAGGAAATAGTGATGTAAATTAGTATACCCTGACTGCCTCTGCCAGGACAGCCAGCTCCCACATGTCCTACTCACCCCAGGTCGGTGCAGTGGAAGGGAGTGACCACATAGGCCCCACTCTGAGTTGAGGAGGAGATGAGGCCGCCCTCCCGGGCCTCCCGGACAGGGTCCACCATGGTCCGGGGCATCATATACAGCTCCTTGGAATGGTCAAAGCACCCCCTGACCTTCACTGGCCTATACTCCAGATTTTTCAGTTCCATTGGGCTGCATGGAGATAAGAACAGTGGCCGAGCAAGGTTTGGCTGGAAAACGAATCCCCTGAGGGTGGCAGACTACACAGCCCACCAGGGCCAGACAAGTGAAGGAGAAAGGCAAAGGGCGTGCTCTTCAAAGGGGAACTTTGATGCCATGTGGGAATGTGGATCTGCACTGCCAGAGTCCAACTTTACAAGAGAGGCTAAAAATCTGGACTCCTCAATGAATATTTTATGTGAAATTTTAAAAAATATGTGGGCCAAAACCCCATCTGCAAGCCAAATCTGGCATACTGTTTGCTACCCTGAATGGAAAATGTGGCTGAATATACCTATCTCTGTAGGGCATATTCTAGGGAGAGAGCAGACAAATCATTCAGGGCACTTTTTCAAACGACCACCCTCACGGTGAGACCTACATTATCTGTCCTCAGCCACAGGGCCTTGGGCCCTGTGGAGGATAAGTTTACTATACCTGAAAAAAGGGTGACACCCAGGACTCAAAATAAGACTTTCCTCCATATGTCAGGAGGCGGTCTCAGGTAGCTTCACAAGGGCAGTCAGGTGTCAACAGCAAGCCCAACAGATGACTGATAATGAGAGCTCCCACCTGAGGTCAAGGCAGTGACTAAAAGTCCCACCAAAAGGGGCAAGCTGGCCAGCAGAAGCCAGGGCTCTGCTGTTGAACTCAAGTAAAACAGGCCCTAGGGGGGCAGCCATGCACTCACTCGGCTGGCAGAGGGACAGGCTCAGCCAGAACTCTGGACTCCAACTCTGCAATCAGGTTCAGCTTCCACTTCCGACGCTGGACCTACAGTGACAGAGCATAAGGCCAAGCAGATGGCAGCAAGGTCAAGGGCCCAGAGTTACGCACACCAGATGCCGGTCTTTACCTGCCATGTCCCCAAGCCAAAGGCAGTCACAGGGATGAGGAGCAGGACCCACTGAAGAAAGGAGTCATCTTCCGCTTTTGTGGCAGATGCTTCTGCTGCAGAACTGCCACATCTGCTTGGCCTCCAGGCCACCCCTGGAGAGTTTCACAACACTGACATGGAGCCAGAAGCCCTCGAACACAGACCTGGAGCAGCCCGTTCCAAGACAGACTCCAGTACTGCCAATCAAAACCTGCTGCCTAGAGCCAACTAGCAGCACCTGTATCCAGCCCAGCTCCTAACCCGGTGCCCAGAACAAGGCACACACAGTACGTCTGCCAAGTGAGTAAGTGGGATCTAGGGCTCAGTGCCGGTTTGACCACCAACCACGACCCTGAGTAACTCATGCCTTTTTACTCAAGAATCTAGATGTATTCCACTGCACTAAGATGCACCATTCATCCATTCAAAATGCATTTAATAAGCAGCTACAGTTGGCCGGGCACGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGCGGGCGGATCACGAGATCAGGAGTTCGAGACCAGCCTGACCAACATGCAGAAACCCCATCTCTACAAAAAAATGCAAAAATTAGCTGAGCACGATGGTGCTTCTGTAATCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATCGCTTGAACCTGGGAGGAGGTGGTTGCTGTAAGCCGAGATTGCGCCACTGCACTCCAGCCTGGGCAACAAGAGCGAAACTGTCTCAAAAAATAAAAAATAAGCAGCTACAGTTACTAAGTAGCTTAGTCAGGCACTAGTGGTTGTTGTGTTATGTAGAAAAATATATCAATTCAGTAATGGCTCACAGAGCTCTCTTAACAGCTTTCCATTTTTACAACTCATCGTAAATGTAAAGAGGGAAGAATGTACACAGAAAGTGCCTTTAAGCTCTCAGAGGATGAGTTCCATCCGCTGAAAAGCACCAGGGGCCTTGCGGATACTATTTTTTTTTTTTTTTTTATAAAAAGGCAGGCCTGGGGCAGGCTTGCACAGCACTCTACACACGGCAAAACAGCCCTGTGCTGCACACTGAGAGGAACACGTAAGCCGCGGTGGTTAGATACGCTTTACTTTCAGAGCCCTGGGCTTTCAGCCTGGGCTGGCCACCCATTAGCTGGATGGGACGTTCGGAAGTAACTCTCGAGCCTTCTCTGTAACAGGGGAACGACCAAGGAGCTACCTCTCGCGTTGTGAGGACAAAGCGCTCGCTACATGCCCGGCACACGACCACAATTCCACTGAAAGCATTTTAATACGGAACTTGTCACTCCCAGGGAGCCTCCGCTCAGCCGGCAGTTGGTTCATTTCAATCCCCACGACAACCCTTCAAAGTGCAGGGCAGACAGCAGGTGGCTCTGCCCAGGCGCCTGGATCACAGCCCGGCCTGCAGCCCTCACCTGGGCGCGGGGAGACCCTGAGGACGCTCCTCCAGGCGGCGCTGGCCGGGGCCTGCGGACACGGACGGGCGGGCTGAGCTCCGGGACCCCTCCCCGCGCCCCGCACCCCGCACCCCGCACCCGGCGCTCACCCGTCCCAGCCCCGCCGCCCGCAGCCCCAGCTGCAACGCAGCCACCGCCGCCATCGCACCCGGCCCCGCGGGCGCTTCCGGGACGCAGGAAGCATCTGCATCCGGGGCGCCGCTGAGTCCCGCCCAGAGCCCCGCCCCCGGCTCCAGGTTCTGCGAGCGGCTTCCGCCGGGCTGCTCCGCGGGCGCGTCGGCCATGAGCGAGTTGCCGGGCGACGTGCGGGCGTTTCTGCGGGAGCACCCGAGCCTGCGGCTCCAGACGGACGCCCGCAAGGTTCGCAGCGCGGGAGGGGAACGGAGTGGCGGAGAAGGGCGCAGTTGGGATGAGGGGCTGAGGGGAGGGCAGGGGAGAGGAGAGGGCAGG
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CTAAAGTAGGAAGAGTCCATGTCCCTTACCTGGCCTTTCTGCCGGGTTTCAGGATTCACTTTCTTCCTGGGAACGAACCCTCTATTTACCAGGATGGTGACTCTAGGGTAATGAAAGTGCTACTTCAGGTGGGGAGGGTTTTTGACTAAAGACAGTCACTCATGGTCACTCAGGCACCCATAGGAACAACTAGAGCACCAAGGAAGGCTTTTAAAACAGGGCTGGCTCAGTGGAGCCCTGGCAGTGCCACACAGGCAAAGTCTTCCTCTCTTGAGGCACCTTCGTGGTTGGTAAAAGGCTCCCTGCCACCATCACTACCTTTTTACCAGTGTGGCTTTCCCCTTCTATCTCTGCTTCTTGTGGTCTACCTACTACAACGTGCAACTGGTGAGCAACGCTGCCACGCCAGAGTTTAGACCCCACACCTCTCCCCTGAACTATGGCAAGAGCTGTCTCCAATCCCTCCTCCTAACCAAGGCAGCCGTGAGGAGCAGCCCTGGCACCCCAGCCTGCTGGAGATGAGTACTTGGGCCCCATCCCAGCCCTAAAACAGGAACCCATGGGTTAACAAGAGCCCCAGGTATTTTCATTTTTACGTGAATCCTCCAGTTCCCTAGTTAATCACACAGGTGCTCCTGTACCTGTCATTTGCTTTGCCTGGAATGTTCTTCCCATCTCTTAACTCCCAAATAGCCCTCTAGGGAGCCACCCCTGCCTCCACTCCCTCAAGGTAGGGCTGGGGTCCTTTCTCTTGAAGTCCTCTTGCTGGCCCCTCATAGCTTGCCATCATCTAATGTGTGGGCAACTAGACAGTTCTCCAGAGGCAGGGCCCCTGTTTCACGAATCCCTCCTTTCCCTTCAGAGGTCAACATACAGAAATTATCCAGTCATAAATGAGCTGGCTGAGAAGATTAAGTCAATGTCACAATTAGGGACTTAAACTATGCAAGGAATTGAATCTCCTGGGTATCTTGGGTTCCCCAGGGTCCTACCAAGGTTGGGGATTGTGAAGGAAATAGTGATGTAAATTAGTATACCCTGACTGCCTCTGCCAGGACAGCCAGCTCCCACATGTCCTACTCACCCCAGGTCGGTGCAGTGGAAGGGAGTGACCACATAGGCCCCACTCTGAGTTGAGGAGGAGATGAGGCCGCCCTCCCGGGCCTCCCGGACAGGGTCCACCATGGTCCGGGGCATCATATACAGCTCCTTGGAATGGTCAAAGCACCCCCTGACCTTCACTGGCCTATACTCCAGATTTTTCAGTTCCATTGGGCTGCATGGAGATAAGAACAGTGGCCGAGCAAGGTTTGGCTGGAAAACGAATCCCCTGAGGGTGGCAGACTACACAGCCCACCAGGGCCAGACAAGTGAAGGAGAAAGGCAAAGGGCGTGCTCTTCAAAGGGGAACTTTGATGCCATGTGGGAATGTGGATCTGCACTGCCAGAGTCCAACTTTACAAGAGAGGCTAAAAATCTGGACTCCTCAATGAATATTTTATGTGAAATTTTAAAAAATATGTGGGCCAAAACCCCATCTGCAAGCCAAATCTGGCATACTGTTTGCTACCCTGAATGGAAAATGTGGCTGAATATACCTATCTCTGTAGGGCATATTCTAGGGAGAGAGCAGACAAATCATTCAGGGCACTTTTTCAAACGACCACCCTCACGGTGAGACCTACATTATCTGTCCTCAGCCACAGGGCCTTGGGCCCTGTGGAGGATAAGTTTACTATACCTGAAAAAAGGGTGACACCCAGGACTCAAAATAAGACTTTCCTCCATATGTCAGGAGGCGGTCTCAGGTAGCTTCACAAGGGCAGTCAGGTGTCAACAGCAAGCCCAACAGATGACTGATAATGAGAGCTCCCACCTGAGGTCAAGGCAGTGACTAAAAGTCCCACCAAAAGGGGCAAGCTGGCCAGCAGAAGCCAGGGCTCTGCTGTTGAACTCAAGTAAAACAGGCCCTAGGGGGGCAGCCATGCACTCACTCGGCTGGCAGAGGGACAGGCTCAGCCAGAACTCTGGACTCCAACTCTGCAATCGGGTTCAGCTTCCACTTCCGACGCTGGACCTACAGTGACAGAGCATAAGGCCAAGCAGATGGCAGCAAGGTCAAGGGCCCAGAGTTACGCACACCAGATGCCGGTCTTTACCTGCCATGTCCCCAAGCCAAAGGCAGTCACAGGGATGAGGAGCAGGACCCACTGAAGAAAGGAGTCATCTTCCGCTTTTGTGGCAGATGCTTCTGCTGCAGAACTGCCACATCTGCTTGGCCTCCAGGCCACCCCTGGAGAGTTTCACAACACTGACATGGAGCCAGAAGCCCTCGAACACAGACCTGGAGCAGCCCGTTCCAAGACAGACTCCAGTACTGCCAATCAAAACCTGCTGCCTAGAGCCAACTAGCAGCACCTGTATCCAGCCCAGCTCCTAACCCGGTGCCCAGAACAAGGCACACACAGTACGTCTGCCAAGTGAGTAAGTGGGATCTAGGGCTCAGTGCCGGTTTGACCACCAACCACGACCCTGAGTAACTCATGCCTTTTTACTCAAGAATCTAGATGTATTCCACTGCACTAAGATGCACCATTCATCCATTCAAAATGCATTTAATAAGCAGCTACAGTTGGCCGGGCACGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGCGGGCGGATCACGAGATCAGGAGTTCGAGACCAGCCTGACCAACATGCAGAAACCCCATCTCTACAAAAAAATGCAAAAATTAGCTGAGCACGATGGTGCTTCTGTAATCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATCGCTTGAACCTGGGAGGAGGTGGTTGCTGTAAGCCGAGATTGCGCCACTGCACTCCAGCCTGGGCAACAAGAGCGAAACTGTCTCAAAAAATAAAAAATAAGCAGCTACAGTTACTAAGTAGCTTAGTCAGGCACTAGTGGTTGTTGTGTTATGTAGAAAAATATATCAATTCAGTAATGGCTCACAGAGCTCTCTTAACAGCTTTCCATTTTTACAACTCATCGTAAATGTAAAGAGGGAAGAATGTACACAGAAAGTGCCTTTAAGCTCTCAGAGGATGAGTTCCATCCGCTGAAAAGCACCAGGGGCCTTGCGGATACTATTTTTTTTTTTTTTTTTATAAAAAGGCAGGCCTGGGGCAGGCTTGCACAGCACTCTACACACGGCAAAACAGCCCTGTGCTGCACACTGAGAGGAACACGTAAGCCGCGGTGGTTAGATACGCTTTACTTTCAGAGCCCTGGGCTTTCAGCCTGGGCTGGCCACCCATTAGCTGGATGGGACGTTCGGAAGTAACTCTCGAGCCTTCTCTGTAACAGGGGAACGACCAAGGAGCTACCTCTCGCGTTGTGAGGACAAAGCGCTCGCTACATGCCCGGCACACGACCACAATTCCACTGAAAGCATTTTAATACGGAACTTGTCACTCCCAGGGAGCCTCCGCTCAGCCGGCAGTTGGTTCATTTCAATCCCCACGACAACCCTTCAAAGTGCAGGGCAGACAGCAGGTGGCTCTGCCCAGGCGCCTGGATCACAGCCCGGCCTGCAGCCCTCACCTGGGCGCGGGGAGACCCTGAGGACGCTCCTCCAGGCGGCGCTGGCCGGGGCCTGCGGACACGGACGGGCGGGCTGAGCTCCGGGACCCCTCCCCGCGCCCCGCACCCCGCACCCCGCACCCGGCGCTCACCCGTCCCAGCCCCGCCGCCCGCAGCCCCAGCTGCAACGCAGCCACCGCCGCCATCGCACCCGGCCCCGCGGGCGCTTCCGGGACGCAGGAAGCATCTGCATCCGGGGCGCCGCTGAGTCCCGCCCAGAGCCCCGCCCCCGGCTCCAGGTTCTGCGAGCGGCTTCCGCCGGGCTGCTCCGCGGGCGCGTCGGCCATGAGCGAGTTGCCGGGCGACGTGCGGGCGTTTCTGCGGGAGCACCCGAGCCTGCGGCTCCAGACGGACGCCCGCAAGGTTCGCAGCGCGGGAGGGGAACGGAGTGGCGGAGAAGGGCGCAGTTGGGATGAGGGGCTGAGGGGAGGGCAGGGGAGAGGAGAGGGCAGG
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Task1_train_13429
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The gene SURF1 (SURF1 cytochrome c oxidase assembly factor) on Chromosome 9 carries this variant. Does this mutation lead to a specific disease, or is it non-pathogenic?
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Pathogenic; Leigh syndrome
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CTAAAGTAGGAAGAGTCCATGTCCCTTACCTGGCCTTTCTGCCGGGTTTCAGGATTCACTTTCTTCCTGGGAACGAACCCTCTATTTACCAGGATGGTGACTCTAGGGTAATGAAAGTGCTACTTCAGGTGGGGAGGGTTTTTGACTAAAGACAGTCACTCATGGTCACTCAGGCACCCATAGGAACAACTAGAGCACCAAGGAAGGCTTTTAAAACAGGGCTGGCTCAGTGGAGCCCTGGCAGTGCCACACAGGCAAAGTCTTCCTCTCTTGAGGCACCTTCGTGGTTGGTAAAAGGCTCCCTGCCACCATCACTACCTTTTTACCAGTGTGGCTTTCCCCTTCTATCTCTGCTTCTTGTGGTCTACCTACTACAACGTGCAACTGGTGAGCAACGCTGCCACGCCAGAGTTTAGACCCCACACCTCTCCCCTGAACTATGGCAAGAGCTGTCTCCAATCCCTCCTCCTAACCAAGGCAGCCGTGAGGAGCAGCCCTGGCACCCCAGCCTGCTGGAGATGAGTACTTGGGCCCCATCCCAGCCCTAAAACAGGAACCCATGGGTTAACAAGAGCCCCAGGTATTTTCATTTTTACGTGAATCCTCCAGTTCCCTAGTTAATCACACAGGTGCTCCTGTACCTGTCATTTGCTTTGCCTGGAATGTTCTTCCCATCTCTTAACTCCCAAATAGCCCTCTAGGGAGCCACCCCTGCCTCCACTCCCTCAAGGTAGGGCTGGGGTCCTTTCTCTTGAAGTCCTCTTGCTGGCCCCTCATAGCTTGCCATCATCTAATGTGTGGGCAACTAGACAGTTCTCCAGAGGCAGGGCCCCTGTTTCACGAATCCCTCCTTTCCCTTCAGAGGTCAACATACAGAAATTATCCAGTCATAAATGAGCTGGCTGAGAAGATTAAGTCAATGTCACAATTAGGGACTTAAACTATGCAAGGAATTGAATCTCCTGGGTATCTTGGGTTCCCCAGGGTCCTACCAAGGTTGGGGATTGTGAAGGAAATAGTGATGTAAATTAGTATACCCTGACTGCCTCTGCCAGGACAGCCAGCTCCCACATGTCCTACTCACCCCAGGTCGGTGCAGTGGAAGGGAGTGACCACATAGGCCCCACTCTGAGTTGAGGAGGAGATGAGGCCGCCCTCCCGGGCCTCCCGGACAGGGTCCACCATGGTCCGGGGCATCATATACAGCTCCTTGGAATGGTCAAAGCACCCCCTGACCTTCACTGGCCTATACTCCAGATTTTTCAGTTCCATTGGGCTGCATGGAGATAAGAACAGTGGCCGAGCAAGGTTTGGCTGGAAAACGAATCCCCTGAGGGTGGCAGACTACACAGCCCACCAGGGCCAGACAAGTGAAGGAGAAAGGCAAAGGGCGTGCTCTTCAAAGGGGAACTTTGATGCCATGTGGGAATGTGGATCTGCACTGCCAGAGTCCAACTTTACAAGAGAGGCTAAAAATCTGGACTCCTCAATGAATATTTTATGTGAAATTTTAAAAAATATGTGGGCCAAAACCCCATCTGCAAGCCAAATCTGGCATACTGTTTGCTACCCTGAATGGAAAATGTGGCTGAATATACCTATCTCTGTAGGGCATATTCTAGGGAGAGAGCAGACAAATCATTCAGGGCACTTTTTCAAACGACCACCCTCACGGTGAGACCTACATTATCTGTCCTCAGCCACAGGGCCTTGGGCCCTGTGGAGGATAAGTTTACTATACCTGAAAAAAGGGTGACACCCAGGACTCAAAATAAGACTTTCCTCCATATGTCAGGAGGCGGTCTCAGGTAGCTTCACAAGGGCAGTCAGGTGTCAACAGCAAGCCCAACAGATGACTGATAATGAGAGCTCCCACCTGAGGTCAAGGCAGTGACTAAAAGTCCCACCAAAAGGGGCAAGCTGGCCAGCAGAAGCCAGGGCTCTGCTGTTGAACTCAAGTAAAACAGGCCCTAGGGGGGCAGCCATGCACTCACTCGGCTGGCAGAGGGACAGGCTCAGCCAGAACTCTGGACTCCAACTCTGCAATCAGGTTCAGCTTCCACTTCCGACGCTGGACCTACAGTGACAGAGCATAAGGCCAAGCAGATGGCAGCAAGGTCAAGGGCCCAGAGTTACGCACACCAGATGCCGGTCTTTACCTGCCATGTCCCCAAGCCAAAGGCAGTCACAGGGATGAGGAGCAGGACCCACTGAAGAAAGGAGTCATCTTCCGCTTTTGTGGCAGATGCTTCTGCTGCAGAACTGCCACATCTGCTTGGCCTCCAGGCCACCCCTGGAGAGTTTCACAACACTGACATGGAGCCAGAAGCCCTCGAACACAGACCTGGAGCAGCCCGTTCCAAGACAGACTCCAGTACTGCCAATCAAAACCTGCTGCCTAGAGCCAACTAGCAGCACCTGTATCCAGCCCAGCTCCTAACCCGGTGCCCAGAACAAGGCACACACAGTACGTCTGCCAAGTGAGTAAGTGGGATCTAGGGCTCAGTGCCGGTTTGACCACCAACCACGACCCTGAGTAACTCATGCCTTTTTACTCAAGAATCTAGATGTATTCCACTGCACTAAGATGCACCATTCATCCATTCAAAATGCATTTAATAAGCAGCTACAGTTGGCCGGGCACGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGCGGGCGGATCACGAGATCAGGAGTTCGAGACCAGCCTGACCAACATGCAGAAACCCCATCTCTACAAAAAAATGCAAAAATTAGCTGAGCACGATGGTGCTTCTGTAATCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATCGCTTGAACCTGGGAGGAGGTGGTTGCTGTAAGCCGAGATTGCGCCACTGCACTCCAGCCTGGGCAACAAGAGCGAAACTGTCTCAAAAAATAAAAAATAAGCAGCTACAGTTACTAAGTAGCTTAGTCAGGCACTAGTGGTTGTTGTGTTATGTAGAAAAATATATCAATTCAGTAATGGCTCACAGAGCTCTCTTAACAGCTTTCCATTTTTACAACTCATCGTAAATGTAAAGAGGGAAGAATGTACACAGAAAGTGCCTTTAAGCTCTCAGAGGATGAGTTCCATCCGCTGAAAAGCACCAGGGGCCTTGCGGATACTATTTTTTTTTTTTTTTTTATAAAAAGGCAGGCCTGGGGCAGGCTTGCACAGCACTCTACACACGGCAAAACAGCCCTGTGCTGCACACTGAGAGGAACACGTAAGCCGCGGTGGTTAGATACGCTTTACTTTCAGAGCCCTGGGCTTTCAGCCTGGGCTGGCCACCCATTAGCTGGATGGGACGTTCGGAAGTAACTCTCGAGCCTTCTCTGTAACAGGGGAACGACCAAGGAGCTACCTCTCGCGTTGTGAGGACAAAGCGCTCGCTACATGCCCGGCACACGACCACAATTCCACTGAAAGCATTTTAATACGGAACTTGTCACTCCCAGGGAGCCTCCGCTCAGCCGGCAGTTGGTTCATTTCAATCCCCACGACAACCCTTCAAAGTGCAGGGCAGACAGCAGGTGGCTCTGCCCAGGCGCCTGGATCACAGCCCGGCCTGCAGCCCTCACCTGGGCGCGGGGAGACCCTGAGGACGCTCCTCCAGGCGGCGCTGGCCGGGGCCTGCGGACACGGACGGGCGGGCTGAGCTCCGGGACCCCTCCCCGCGCCCCGCACCCCGCACCCCGCACCCGGCGCTCACCCGTCCCAGCCCCGCCGCCCGCAGCCCCAGCTGCAACGCAGCCACCGCCGCCATCGCACCCGGCCCCGCGGGCGCTTCCGGGACGCAGGAAGCATCTGCATCCGGGGCGCCGCTGAGTCCCGCCCAGAGCCCCGCCCCCGGCTCCAGGTTCTGCGAGCGGCTTCCGCCGGGCTGCTCCGCGGGCGCGTCGGCCATGAGCGAGTTGCCGGGCGACGTGCGGGCGTTTCTGCGGGAGCACCCGAGCCTGCGGCTCCAGACGGACGCCCGCAAGGTTCGCAGCGCGGGAGGGGAACGGAGTGGCGGAGAAGGGCGCAGTTGGGATGAGGGGCTGAGGGGAGGGCAGGGGAGAGGAGAGGGCAGG
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CTAAAGTAGGAAGAGTCCATGTCCCTTACCTGGCCTTTCTGCCGGGTTTCAGGATTCACTTTCTTCCTGGGAACGAACCCTCTATTTACCAGGATGGTGACTCTAGGGTAATGAAAGTGCTACTTCAGGTGGGGAGGGTTTTTGACTAAAGACAGTCACTCATGGTCACTCAGGCACCCATAGGAACAACTAGAGCACCAAGGAAGGCTTTTAAAACAGGGCTGGCTCAGTGGAGCCCTGGCAGTGCCACACAGGCAAAGTCTTCCTCTCTTGAGGCACCTTCGTGGTTGGTAAAAGGCTCCCTGCCACCATCACTACCTTTTTACCAGTGTGGCTTTCCCCTTCTATCTCTGCTTCTTGTGGTCTACCTACTACAACGTGCAACTGGTGAGCAACGCTGCCACGCCAGAGTTTAGACCCCACACCTCTCCCCTGAACTATGGCAAGAGCTGTCTCCAATCCCTCCTCCTAACCAAGGCAGCCGTGAGGAGCAGCCCTGGCACCCCAGCCTGCTGGAGATGAGTACTTGGGCCCCATCCCAGCCCTAAAACAGGAACCCATGGGTTAACAAGAGCCCCAGGTATTTTCATTTTTACGTGAATCCTCCAGTTCCCTAGTTAATCACACAGGTGCTCCTGTACCTGTCATTTGCTTTGCCTGGAATGTTCTTCCCATCTCTTAACTCCCAAATAGCCCTCTAGGGAGCCACCCCTGCCTCCACTCCCTCAAGGTAGGGCTGGGGTCCTTTCTCTTGAAGTCCTCTTGCTGGCCCCTCATAGCTTGCCATCATCTAATGTGTGGGCAACTAGACAGTTCTCCAGAGGCAGGGCCCCTGTTTCACGAATCCCTCCTTTCCCTTCAGAGGTCAACATACAGAAATTATCCAGTCATAAATGAGCTGGCTGAGAAGATTAAGTCAATGTCACAATTAGGGACTTAAACTATGCAAGGAATTGAATCTCCTGGGTATCTTGGGTTCCCCAGGGTCCTACCAAGGTTGGGGATTGTGAAGGAAATAGTGATGTAAATTAGTATACCCTGACTGCCTCTGCCAGGACAGCCAGCTCCCACATGTCCTACTCACCCCAGGTCGGTGCAGTGGAAGGGAGTGACCACATAGGCCCCACTCTGAGTTGAGGAGGAGATGAGGCCGCCCTCCCGGGCCTCCCGGACAGGGTCCACCATGGTCCGGGGCATCATATACAGCTCCTTGGAATGGTCAAAGCACCCCCTGACCTTCACTGGCCTATACTCCAGATTTTTCAGTTCCATTGGGCTGCATGGAGATAAGAACAGTGGCCGAGCAAGGTTTGGCTGGAAAACGAATCCCCTGAGGGTGGCAGACTACACAGCCCACCAGGGCCAGACAAGTGAAGGAGAAAGGCAAAGGGCGTGCTCTTCAAAGGGGAACTTTGATGCCATGTGGGAATGTGGATCTGCACTGCCAGAGTCCAACTTTACAAGAGAGGCTAAAAATCTGGACTCCTCAATGAATATTTTATGTGAAATTTTAAAAAATATGTGGGCCAAAACCCCATCTGCAAGCCAAATCTGGCATACTGTTTGCTACCCTGAATGGAAAATGTGGCTGAATATACCTATCTCTGTAGGGCATATTCTAGGGAGAGAGCAGACAAATCATTCAGGGCACTTTTTCAAACGACCACCCTCACGGTGAGACCTACATTATCTGTCCTCAGCCACAGGGCCTTGGGCCCTGTGGAGGATAAGTTTACTATACCTGAAAAAAGGGTGACACCCAGGACTCAAAATAAGACTTTCCTCCATATGTCAGGAGGCGGTCTCAGGTAGCTTCACAAGGGCAGTCAGGTGTCAACAGCAAGCCCAACAGATGACTGATAATGAGAGCTCCCACCTGAGGTCAAGGCAGTGACTAAAAGTCCCACCAAAAGGGGCAAGCTGGCCAGCAGAAGCCAGGGCTCTGCTGTTGAACTCAAGTAAAACAGGCCCTAGGGGGGCAGCCATGCACTCACTCGGCTGGCAGAGGGACAGGCTCAGCCAGAACTCTGGACTCCAACTCTGCAATCGGGTTCAGCTTCCACTTCCGACGCTGGACCTACAGTGACAGAGCATAAGGCCAAGCAGATGGCAGCAAGGTCAAGGGCCCAGAGTTACGCACACCAGATGCCGGTCTTTACCTGCCATGTCCCCAAGCCAAAGGCAGTCACAGGGATGAGGAGCAGGACCCACTGAAGAAAGGAGTCATCTTCCGCTTTTGTGGCAGATGCTTCTGCTGCAGAACTGCCACATCTGCTTGGCCTCCAGGCCACCCCTGGAGAGTTTCACAACACTGACATGGAGCCAGAAGCCCTCGAACACAGACCTGGAGCAGCCCGTTCCAAGACAGACTCCAGTACTGCCAATCAAAACCTGCTGCCTAGAGCCAACTAGCAGCACCTGTATCCAGCCCAGCTCCTAACCCGGTGCCCAGAACAAGGCACACACAGTACGTCTGCCAAGTGAGTAAGTGGGATCTAGGGCTCAGTGCCGGTTTGACCACCAACCACGACCCTGAGTAACTCATGCCTTTTTACTCAAGAATCTAGATGTATTCCACTGCACTAAGATGCACCATTCATCCATTCAAAATGCATTTAATAAGCAGCTACAGTTGGCCGGGCACGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGCGGGCGGATCACGAGATCAGGAGTTCGAGACCAGCCTGACCAACATGCAGAAACCCCATCTCTACAAAAAAATGCAAAAATTAGCTGAGCACGATGGTGCTTCTGTAATCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATCGCTTGAACCTGGGAGGAGGTGGTTGCTGTAAGCCGAGATTGCGCCACTGCACTCCAGCCTGGGCAACAAGAGCGAAACTGTCTCAAAAAATAAAAAATAAGCAGCTACAGTTACTAAGTAGCTTAGTCAGGCACTAGTGGTTGTTGTGTTATGTAGAAAAATATATCAATTCAGTAATGGCTCACAGAGCTCTCTTAACAGCTTTCCATTTTTACAACTCATCGTAAATGTAAAGAGGGAAGAATGTACACAGAAAGTGCCTTTAAGCTCTCAGAGGATGAGTTCCATCCGCTGAAAAGCACCAGGGGCCTTGCGGATACTATTTTTTTTTTTTTTTTTATAAAAAGGCAGGCCTGGGGCAGGCTTGCACAGCACTCTACACACGGCAAAACAGCCCTGTGCTGCACACTGAGAGGAACACGTAAGCCGCGGTGGTTAGATACGCTTTACTTTCAGAGCCCTGGGCTTTCAGCCTGGGCTGGCCACCCATTAGCTGGATGGGACGTTCGGAAGTAACTCTCGAGCCTTCTCTGTAACAGGGGAACGACCAAGGAGCTACCTCTCGCGTTGTGAGGACAAAGCGCTCGCTACATGCCCGGCACACGACCACAATTCCACTGAAAGCATTTTAATACGGAACTTGTCACTCCCAGGGAGCCTCCGCTCAGCCGGCAGTTGGTTCATTTCAATCCCCACGACAACCCTTCAAAGTGCAGGGCAGACAGCAGGTGGCTCTGCCCAGGCGCCTGGATCACAGCCCGGCCTGCAGCCCTCACCTGGGCGCGGGGAGACCCTGAGGACGCTCCTCCAGGCGGCGCTGGCCGGGGCCTGCGGACACGGACGGGCGGGCTGAGCTCCGGGACCCCTCCCCGCGCCCCGCACCCCGCACCCCGCACCCGGCGCTCACCCGTCCCAGCCCCGCCGCCCGCAGCCCCAGCTGCAACGCAGCCACCGCCGCCATCGCACCCGGCCCCGCGGGCGCTTCCGGGACGCAGGAAGCATCTGCATCCGGGGCGCCGCTGAGTCCCGCCCAGAGCCCCGCCCCCGGCTCCAGGTTCTGCGAGCGGCTTCCGCCGGGCTGCTCCGCGGGCGCGTCGGCCATGAGCGAGTTGCCGGGCGACGTGCGGGCGTTTCTGCGGGAGCACCCGAGCCTGCGGCTCCAGACGGACGCCCGCAAGGTTCGCAGCGCGGGAGGGGAACGGAGTGGCGGAGAAGGGCGCAGTTGGGATGAGGGGCTGAGGGGAGGGCAGGGGAGAGGAGAGGGCAGG
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Task1_train_13430
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Given a variant located on Chromosome 9 and affecting SURF1 (SURF1 cytochrome c oxidase assembly factor), assess whether it is benign or pathogenic. Indicate the associated disease if pathogenic.
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Pathogenic; Inborn genetic diseases
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TGAAAGTGCTACTTCAGGTGGGGAGGGTTTTTGACTAAAGACAGTCACTCATGGTCACTCAGGCACCCATAGGAACAACTAGAGCACCAAGGAAGGCTTTTAAAACAGGGCTGGCTCAGTGGAGCCCTGGCAGTGCCACACAGGCAAAGTCTTCCTCTCTTGAGGCACCTTCGTGGTTGGTAAAAGGCTCCCTGCCACCATCACTACCTTTTTACCAGTGTGGCTTTCCCCTTCTATCTCTGCTTCTTGTGGTCTACCTACTACAACGTGCAACTGGTGAGCAACGCTGCCACGCCAGAGTTTAGACCCCACACCTCTCCCCTGAACTATGGCAAGAGCTGTCTCCAATCCCTCCTCCTAACCAAGGCAGCCGTGAGGAGCAGCCCTGGCACCCCAGCCTGCTGGAGATGAGTACTTGGGCCCCATCCCAGCCCTAAAACAGGAACCCATGGGTTAACAAGAGCCCCAGGTATTTTCATTTTTACGTGAATCCTCCAGTTCCCTAGTTAATCACACAGGTGCTCCTGTACCTGTCATTTGCTTTGCCTGGAATGTTCTTCCCATCTCTTAACTCCCAAATAGCCCTCTAGGGAGCCACCCCTGCCTCCACTCCCTCAAGGTAGGGCTGGGGTCCTTTCTCTTGAAGTCCTCTTGCTGGCCCCTCATAGCTTGCCATCATCTAATGTGTGGGCAACTAGACAGTTCTCCAGAGGCAGGGCCCCTGTTTCACGAATCCCTCCTTTCCCTTCAGAGGTCAACATACAGAAATTATCCAGTCATAAATGAGCTGGCTGAGAAGATTAAGTCAATGTCACAATTAGGGACTTAAACTATGCAAGGAATTGAATCTCCTGGGTATCTTGGGTTCCCCAGGGTCCTACCAAGGTTGGGGATTGTGAAGGAAATAGTGATGTAAATTAGTATACCCTGACTGCCTCTGCCAGGACAGCCAGCTCCCACATGTCCTACTCACCCCAGGTCGGTGCAGTGGAAGGGAGTGACCACATAGGCCCCACTCTGAGTTGAGGAGGAGATGAGGCCGCCCTCCCGGGCCTCCCGGACAGGGTCCACCATGGTCCGGGGCATCATATACAGCTCCTTGGAATGGTCAAAGCACCCCCTGACCTTCACTGGCCTATACTCCAGATTTTTCAGTTCCATTGGGCTGCATGGAGATAAGAACAGTGGCCGAGCAAGGTTTGGCTGGAAAACGAATCCCCTGAGGGTGGCAGACTACACAGCCCACCAGGGCCAGACAAGTGAAGGAGAAAGGCAAAGGGCGTGCTCTTCAAAGGGGAACTTTGATGCCATGTGGGAATGTGGATCTGCACTGCCAGAGTCCAACTTTACAAGAGAGGCTAAAAATCTGGACTCCTCAATGAATATTTTATGTGAAATTTTAAAAAATATGTGGGCCAAAACCCCATCTGCAAGCCAAATCTGGCATACTGTTTGCTACCCTGAATGGAAAATGTGGCTGAATATACCTATCTCTGTAGGGCATATTCTAGGGAGAGAGCAGACAAATCATTCAGGGCACTTTTTCAAACGACCACCCTCACGGTGAGACCTACATTATCTGTCCTCAGCCACAGGGCCTTGGGCCCTGTGGAGGATAAGTTTACTATACCTGAAAAAAGGGTGACACCCAGGACTCAAAATAAGACTTTCCTCCATATGTCAGGAGGCGGTCTCAGGTAGCTTCACAAGGGCAGTCAGGTGTCAACAGCAAGCCCAACAGATGACTGATAATGAGAGCTCCCACCTGAGGTCAAGGCAGTGACTAAAAGTCCCACCAAAAGGGGCAAGCTGGCCAGCAGAAGCCAGGGCTCTGCTGTTGAACTCAAGTAAAACAGGCCCTAGGGGGGCAGCCATGCACTCACTCGGCTGGCAGAGGGACAGGCTCAGCCAGAACTCTGGACTCCAACTCTGCAATCAGGTTCAGCTTCCACTTCCGACGCTGGACCTACAGTGACAGAGCATAAGGCCAAGCAGATGGCAGCAAGGTCAAGGGCCCAGAGTTACGCACACCAGATGCCGGTCTTTACCTGCCATGTCCCCAAGCCAAAGGCAGTCACAGGGATGAGGAGCAGGACCCACTGAAGAAAGGAGTCATCTTCCGCTTTTGTGGCAGATGCTTCTGCTGCAGAACTGCCACATCTGCTTGGCCTCCAGGCCACCCCTGGAGAGTTTCACAACACTGACATGGAGCCAGAAGCCCTCGAACACAGACCTGGAGCAGCCCGTTCCAAGACAGACTCCAGTACTGCCAATCAAAACCTGCTGCCTAGAGCCAACTAGCAGCACCTGTATCCAGCCCAGCTCCTAACCCGGTGCCCAGAACAAGGCACACACAGTACGTCTGCCAAGTGAGTAAGTGGGATCTAGGGCTCAGTGCCGGTTTGACCACCAACCACGACCCTGAGTAACTCATGCCTTTTTACTCAAGAATCTAGATGTATTCCACTGCACTAAGATGCACCATTCATCCATTCAAAATGCATTTAATAAGCAGCTACAGTTGGCCGGGCACGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGCGGGCGGATCACGAGATCAGGAGTTCGAGACCAGCCTGACCAACATGCAGAAACCCCATCTCTACAAAAAAATGCAAAAATTAGCTGAGCACGATGGTGCTTCTGTAATCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATCGCTTGAACCTGGGAGGAGGTGGTTGCTGTAAGCCGAGATTGCGCCACTGCACTCCAGCCTGGGCAACAAGAGCGAAACTGTCTCAAAAAATAAAAAATAAGCAGCTACAGTTACTAAGTAGCTTAGTCAGGCACTAGTGGTTGTTGTGTTATGTAGAAAAATATATCAATTCAGTAATGGCTCACAGAGCTCTCTTAACAGCTTTCCATTTTTACAACTCATCGTAAATGTAAAGAGGGAAGAATGTACACAGAAAGTGCCTTTAAGCTCTCAGAGGATGAGTTCCATCCGCTGAAAAGCACCAGGGGCCTTGCGGATACTATTTTTTTTTTTTTTTTTATAAAAAGGCAGGCCTGGGGCAGGCTTGCACAGCACTCTACACACGGCAAAACAGCCCTGTGCTGCACACTGAGAGGAACACGTAAGCCGCGGTGGTTAGATACGCTTTACTTTCAGAGCCCTGGGCTTTCAGCCTGGGCTGGCCACCCATTAGCTGGATGGGACGTTCGGAAGTAACTCTCGAGCCTTCTCTGTAACAGGGGAACGACCAAGGAGCTACCTCTCGCGTTGTGAGGACAAAGCGCTCGCTACATGCCCGGCACACGACCACAATTCCACTGAAAGCATTTTAATACGGAACTTGTCACTCCCAGGGAGCCTCCGCTCAGCCGGCAGTTGGTTCATTTCAATCCCCACGACAACCCTTCAAAGTGCAGGGCAGACAGCAGGTGGCTCTGCCCAGGCGCCTGGATCACAGCCCGGCCTGCAGCCCTCACCTGGGCGCGGGGAGACCCTGAGGACGCTCCTCCAGGCGGCGCTGGCCGGGGCCTGCGGACACGGACGGGCGGGCTGAGCTCCGGGACCCCTCCCCGCGCCCCGCACCCCGCACCCCGCACCCGGCGCTCACCCGTCCCAGCCCCGCCGCCCGCAGCCCCAGCTGCAACGCAGCCACCGCCGCCATCGCACCCGGCCCCGCGGGCGCTTCCGGGACGCAGGAAGCATCTGCATCCGGGGCGCCGCTGAGTCCCGCCCAGAGCCCCGCCCCCGGCTCCAGGTTCTGCGAGCGGCTTCCGCCGGGCTGCTCCGCGGGCGCGTCGGCCATGAGCGAGTTGCCGGGCGACGTGCGGGCGTTTCTGCGGGAGCACCCGAGCCTGCGGCTCCAGACGGACGCCCGCAAGGTTCGCAGCGCGGGAGGGGAACGGAGTGGCGGAGAAGGGCGCAGTTGGGATGAGGGGCTGAGGGGAGGGCAGGGGAGAGGAGAGGGCAGGGGAGAGGGGAGAGGGGAGAGCAGGAGAGAGGGGAGGGCAGGGGAGAGGGCGCGGCGGGATCAGGGGAGGAGAGGGAAGGGGGCGCGGCAGGAGGGGGCACCAGGGAGCGGA
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TGAAAGTGCTACTTCAGGTGGGGAGGGTTTTTGACTAAAGACAGTCACTCATGGTCACTCAGGCACCCATAGGAACAACTAGAGCACCAAGGAAGGCTTTTAAAACAGGGCTGGCTCAGTGGAGCCCTGGCAGTGCCACACAGGCAAAGTCTTCCTCTCTTGAGGCACCTTCGTGGTTGGTAAAAGGCTCCCTGCCACCATCACTACCTTTTTACCAGTGTGGCTTTCCCCTTCTATCTCTGCTTCTTGTGGTCTACCTACTACAACGTGCAACTGGTGAGCAACGCTGCCACGCCAGAGTTTAGACCCCACACCTCTCCCCTGAACTATGGCAAGAGCTGTCTCCAATCCCTCCTCCTAACCAAGGCAGCCGTGAGGAGCAGCCCTGGCACCCCAGCCTGCTGGAGATGAGTACTTGGGCCCCATCCCAGCCCTAAAACAGGAACCCATGGGTTAACAAGAGCCCCAGGTATTTTCATTTTTACGTGAATCCTCCAGTTCCCTAGTTAATCACACAGGTGCTCCTGTACCTGTCATTTGCTTTGCCTGGAATGTTCTTCCCATCTCTTAACTCCCAAATAGCCCTCTAGGGAGCCACCCCTGCCTCCACTCCCTCAAGGTAGGGCTGGGGTCCTTTCTCTTGAAGTCCTCTTGCTGGCCCCTCATAGCTTGCCATCATCTAATGTGTGGGCAACTAGACAGTTCTCCAGAGGCAGGGCCCCTGTTTCACGAATCCCTCCTTTCCCTTCAGAGGTCAACATACAGAAATTATCCAGTCATAAATGAGCTGGCTGAGAAGATTAAGTCAATGTCACAATTAGGGACTTAAACTATGCAAGGAATTGAATCTCCTGGGTATCTTGGGTTCCCCAGGGTCCTACCAAGGTTGGGGATTGTGAAGGAAATAGTGATGTAAATTAGTATACCCTGACTGCCTCTGCCAGGACAGCCAGCTCCCACATGTCCTACTCACCCCAGGTCGGTGCAGTGGAAGGGAGTGACCACATAGGCCCCACTCTGAGTTGAGGAGGAGATGAGGCCGCCCTCCCGGGCCTCCCGGACAGGGTCCACCATGGTCCGGGGCATCATATACAGCTCCTTGGAATGGTCAAAGCACCCCCTGACCTTCACTGGCCTATACTCCAGATTTTTCAGTTCCATTGGGCTGCATGGAGATAAGAACAGTGGCCGAGCAAGGTTTGGCTGGAAAACGAATCCCCTGAGGGTGGCAGACTACACAGCCCACCAGGGCCAGACAAGTGAAGGAGAAAGGCAAAGGGCGTGCTCTTCAAAGGGGAACTTTGATGCCATGTGGGAATGTGGATCTGCACTGCCAGAGTCCAACTTTACAAGAGAGGCTAAAAATCTGGACTCCTCAATGAATATTTTATGTGAAATTTTAAAAAATATGTGGGCCAAAACCCCATCTGCAAGCCAAATCTGGCATACTGTTTGCTACCCTGAATGGAAAATGTGGCTGAATATACCTATCTCTGTAGGGCATATTCTAGGGAGAGAGCAGACAAATCATTCAGGGCACTTTTTCAAACGACCACCCTCACGGTGAGACCTACATTATCTGTCCTCAGCCACAGGGCCTTGGGCCCTGTGGAGGATAAGTTTACTATACCTGAAAAAAGGGTGACACCCAGGACTCAAAATAAGACTTTCCTCCATATGTCAGGAGGCGGTCTCAGGTAGCTTCACAAGGGCAGTCAGGTGTCAACAGCAAGCCCAACAGATGACTGATAATGAGAGCTCCCACCTGAGGTCAAGGCAGTGACTAAAAGTCCCACCAAAAGGGGCAAGCTGGCCAGCAGAAGCCAGGGCTCTGCTGTTGAACTCAAGTAAAACAGGCCCTAGGGGGGCAGCCATGCACTCACTCGGCTGGCAGAGGGACAGGCTCAGCCAGAACTCTGGACTCCAACTCTGCAATCAGGTTCAGCTTCCACTTCCGACGCTGGACCTACAGTGACAGAGCATAAGGCCAAGCAGATGGCAGCAAGGTCAAGGGCCCAGAGTTACGCACACCAGATGCCGGTCTTTACGTGCCATGTCCCCAAGCCAAAGGCAGTCACAGGGATGAGGAGCAGGACCCACTGAAGAAAGGAGTCATCTTCCGCTTTTGTGGCAGATGCTTCTGCTGCAGAACTGCCACATCTGCTTGGCCTCCAGGCCACCCCTGGAGAGTTTCACAACACTGACATGGAGCCAGAAGCCCTCGAACACAGACCTGGAGCAGCCCGTTCCAAGACAGACTCCAGTACTGCCAATCAAAACCTGCTGCCTAGAGCCAACTAGCAGCACCTGTATCCAGCCCAGCTCCTAACCCGGTGCCCAGAACAAGGCACACACAGTACGTCTGCCAAGTGAGTAAGTGGGATCTAGGGCTCAGTGCCGGTTTGACCACCAACCACGACCCTGAGTAACTCATGCCTTTTTACTCAAGAATCTAGATGTATTCCACTGCACTAAGATGCACCATTCATCCATTCAAAATGCATTTAATAAGCAGCTACAGTTGGCCGGGCACGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGCGGGCGGATCACGAGATCAGGAGTTCGAGACCAGCCTGACCAACATGCAGAAACCCCATCTCTACAAAAAAATGCAAAAATTAGCTGAGCACGATGGTGCTTCTGTAATCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATCGCTTGAACCTGGGAGGAGGTGGTTGCTGTAAGCCGAGATTGCGCCACTGCACTCCAGCCTGGGCAACAAGAGCGAAACTGTCTCAAAAAATAAAAAATAAGCAGCTACAGTTACTAAGTAGCTTAGTCAGGCACTAGTGGTTGTTGTGTTATGTAGAAAAATATATCAATTCAGTAATGGCTCACAGAGCTCTCTTAACAGCTTTCCATTTTTACAACTCATCGTAAATGTAAAGAGGGAAGAATGTACACAGAAAGTGCCTTTAAGCTCTCAGAGGATGAGTTCCATCCGCTGAAAAGCACCAGGGGCCTTGCGGATACTATTTTTTTTTTTTTTTTTATAAAAAGGCAGGCCTGGGGCAGGCTTGCACAGCACTCTACACACGGCAAAACAGCCCTGTGCTGCACACTGAGAGGAACACGTAAGCCGCGGTGGTTAGATACGCTTTACTTTCAGAGCCCTGGGCTTTCAGCCTGGGCTGGCCACCCATTAGCTGGATGGGACGTTCGGAAGTAACTCTCGAGCCTTCTCTGTAACAGGGGAACGACCAAGGAGCTACCTCTCGCGTTGTGAGGACAAAGCGCTCGCTACATGCCCGGCACACGACCACAATTCCACTGAAAGCATTTTAATACGGAACTTGTCACTCCCAGGGAGCCTCCGCTCAGCCGGCAGTTGGTTCATTTCAATCCCCACGACAACCCTTCAAAGTGCAGGGCAGACAGCAGGTGGCTCTGCCCAGGCGCCTGGATCACAGCCCGGCCTGCAGCCCTCACCTGGGCGCGGGGAGACCCTGAGGACGCTCCTCCAGGCGGCGCTGGCCGGGGCCTGCGGACACGGACGGGCGGGCTGAGCTCCGGGACCCCTCCCCGCGCCCCGCACCCCGCACCCCGCACCCGGCGCTCACCCGTCCCAGCCCCGCCGCCCGCAGCCCCAGCTGCAACGCAGCCACCGCCGCCATCGCACCCGGCCCCGCGGGCGCTTCCGGGACGCAGGAAGCATCTGCATCCGGGGCGCCGCTGAGTCCCGCCCAGAGCCCCGCCCCCGGCTCCAGGTTCTGCGAGCGGCTTCCGCCGGGCTGCTCCGCGGGCGCGTCGGCCATGAGCGAGTTGCCGGGCGACGTGCGGGCGTTTCTGCGGGAGCACCCGAGCCTGCGGCTCCAGACGGACGCCCGCAAGGTTCGCAGCGCGGGAGGGGAACGGAGTGGCGGAGAAGGGCGCAGTTGGGATGAGGGGCTGAGGGGAGGGCAGGGGAGAGGAGAGGGCAGGGGAGAGGGGAGAGGGGAGAGCAGGAGAGAGGGGAGGGCAGGGGAGAGGGCGCGGCGGGATCAGGGGAGGAGAGGGAAGGGGGCGCGGCAGGAGGGGGCACCAGGGAGCGGA
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Task1_train_13431
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This mutation is located in gene ADAMTS13 (ADAM metallopeptidase with thrombospondin type 1 motif 13) on Chromosome 9. Is it associated with a disease or is it a benign polymorphism?
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Pathogenic; Upshaw-Schulman syndrome
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CCCAGTCACCAAGGCCCCCTCTCACTCCGCTCCACTCCTCGGGCTGGCTCTCCTGAGGATGCACCAGCGTCACCCCCGGGCAAGATGCCCTCCCCTCTGTGTGGCCGGAATCCTTGCCTGTGGCTTTCTCCTGGGCTGCTGGGGACCCTCCCATTTCCAGCAGGTGGGCTCATTTGCAGGAGCGGGGGTATTCTGGGAGCCTCTGGGTGGGGTATTCTGAGCTACCTGGGGCGAGGGGAGTGCCAAATAGCTGACTACATCAGCTTTGGGGTTTGCGCTGGGCAGGGGAGTCTGTACTTGGGGCTTTGGGGGATGAAGTGTGCTCACTGAAGAGGGAGTTGGTGTCTCAGTACGACCTGCTCATTCGGTGAAGCTGAACAGACAGATACTAGTTTGTCCCAAACTGTGTAGGTTGCTCTTCTCTGCCTCTCCCTTCCTCTCCCTGTCTCTGATTTCCCCCTCTCCTTCTTGGTTGGCCTCACCCACCTCCTGCCTCCTGTCTCCCTCTTCATCCATCTCTTTTTGTTCTTTTTTCTTTCTCTCTCTCTCTTTTTTTTTTTTTTTTTTTTTTTAAGACATGGGGTCTTGTTATGTTGCCCCAGCTGGTCTCAAACTCCTGGACTCAAGTGATCCTCCCACCTCGGTCTCCCCAAGTGTTAGGATTACAGGCCAGAGCCACTATGCCCGGCCCCATCCATCTCTTTTTGTCTTGCAGAGTTGTCTTCAGGCTTTGGAGCCACAGGCCGTGTCTTCTTACTTGAGCCCTGGTGCTCCCTTAAAAGGTACTTGTCCTGGTGTCTTCTCTCCCGGGGGGAGTTTCTCAGGACTTTCAAGGGGTATCTCACCACTGAGTCAGTGGTCTGGGATTTTTGGTGGATCTGGAAGGAGAAGGTCAGAGAAGCTGCTGTCAACCCTGTTAATTAACTCTGTTACTTCCTGCCAAGTTGATATAAGCTGGTCTGGGTGTTCCAGCCAGGCCAGGGTTCTCACCCTAGCTTCTGTTAAATATCACAAGGGAACGGTCACCGATTGGCTGGCCCCTCCTGCCCCATGGCCTCTGCTGAGCTGGCTGATTTTCAGGAGCTCTTGTGGTTTCTGACCGTGGATGTAAATATTTATTCCTTCTGTGGGAAACAAGATAGGTACTGGCTCAGGCTACCTCCTAAGGCCATGGATTTCCTTATGATAAAGGCCTGTCCCCATTGCCCACAGGCCCATGTCTGTGACCTTCTCCGGTGCGAGCCCCCTTCCCAGTAGGGCCATTGGCAACTTGACTAATGGCTGATGGGGGCCAGAGGCAGGTGGGCTAGTGGTCAGGGGCAACAGGAGGGCAAGGCCCACTTTGTGACCTGGTTCTTTGTGGTCTAGGCCAGAGGCACACTGACCAGTGCCTGGGGCCACGCTGGGGGCTGGATGCAGCCGACGCTGTCTGGGTATCCCATAGCCTGGGTCCTTCCAGCGCTGCCGCTCCTGAAAGGCTGGGAGATCATTGCCCAGGGTCCCTGACCCTCTAAGGGCTCCCTTGGGAGAGGACAGTGAGGGCTGGCCTGGGCCCCTGCTTCCCAAGAGACCACTGGGCTCCACTCGTGTTCAGTTTCCTGTCGGGGTCCATGATGTTACTTGTGAAACACCTGTGCCCAGAGCAGGGTCCAGGAGGCAGGGCAGGGGCTTTCCCCTTTGGGCAGAGCCACCAGGGCAGTGGGAATCTTGTCTTGATGGGGTGACCCAAAGCACACAATAGCCCAACAGCTCCTCCTGGGCCCTGCCCTTTGCGTGCCTAGTCACTAATGGGGTCTGGCTCTTGGGGTGGGGGTGACACGCAATGTCTTGACTTCGGAAGGCCATCCTTCCAAGACCTGCCAGCCCCTTTCCTGTTAGCTTTCCACTGCTTGCTCTCTAGAACCATCGCCCTCTGCTCTCCCTCTCCCCCTCCAGGCCGCCCTCCTTCCCCTGGCTTCCAGAGGCAGAGGCAGAGGCAGAGGCGGGCTGCAGGCGGCATCCTACACCTGGAGCTGCTGGTGGCCGTGGGCCCCGATGTCTTCCAGGCTCACCAGGAGGACACAGAGCGCTATGTGCTCACCAACCTCAACATCGTGAGTGCCCCACGCTGGACTGTGCAGGTCCCCACGGCCAGGGCTGGTGACCAATGTCTGTGGGCTGGTGTATCTGGTAGTCTGAATACAGTGGGTTAAACTCAGGTAGAATGGCTCGGGGTTCTTCCTCTTCTCCCTCCCTCCCCTGGGTGGAGGTGGGTGAGGTCCCACACCCTCTCTAGGCTCCATGGCACATGCACACCCTGCAGCCTCTCACTACTCAAGTCCCTTCACCTGGGGCCACCCTCAAGCCTGGCCTCTTCCCCAGTATCCATTTGACCCCCACAAAGCTCAGCTAAAGCAACCCTGGCAAATGGGATACGGGCTGCTCACACTGCCCTCTGCACCCCGACCCTGCCCTCTCTCCATTCTCTTGTCCCCCGCTCAGAGTGGCGAGGACAGGTCACCCGTCTGAAGTCTAAACAGAGACTGCTGGCAAAGGAGATGCCCACCTTCATTTCTTGCTAGCACCTGAATCCCTGCAGCCCCCCTTCACTTGAAAGCTGGGGAAGGGCGGGCAGGGAAGCACTCCCCCACTAGCCGCCGTCTCAGAAAGACAAACAAGGCCAGGCGCGGTGGCTCATGCCTATAATCCCAGCACTTTGGGAGGCCAAGGCGGGTGGATCACCCGAAGTCAGGAGTTCAAGACCAGCCTGGCCAACATGGTGAAACCCCGTAGCTACTAAAAATACAAAACTTAGCTGGGCATGGTGGCAGGCGCCTGTAATCTGAGAGGAGCCTGCGATCTGAGAGGAGCAGCGTTTGACCGGAATATCCGACTCGTGACCATCTGTGTGCTCTCATCCCCTTGCTTTGGAGTTTGTTTTCCTTGCGTTAGTTGGCCTTCCTGAGCCATGAGCTGAGGAGCAACAGAGGCACGGCTGACTGTGCAGCACATTTTAGGAGCCCCCCGCCCCGCCCGGTTCCCACACATGCTGGTGGAGTAGCCTCTCCAGCTCTTCACACTCCGGGGGCCCCTGGGAGTCAGCAGCTGCCTGGGGCTGGCAATGCCCACCCGACGGGTTACCTCTCTCATCTGCCCTTGCACAGGGGGCAGAACTGCTTCGGGACCCGTCCCTGGGGGCTCAGTTTCGGGTGCACCTGGTGAAGATGGTCATTCTGACAGAGCCTGAGGTAGGCATGGAGCTGGAACTCAGCACACCATACAGAGCGGGAAGCCCAAGTCATCGCATCTCCATCCTCTTTAACCTCTTGTCCCGGATGCCCCAAGCAGCATGGATCACAGAATGCATTCAGCCAGACAGACCAGCTGCCCTCCCAGCTCTACCCAGCACTCAGCACAGGCTGCCTGACTACTTCTCTGAGCCTCAGTTGTCTCATCCCTAACACGGGCTAGTCATAGGGTTGTTAGGAGGACTAACTGGGAAACAAACCGACCGCAGTCAGCACCGTGCCTGGTTGGGGTGTCCTAAATGCAGGCTTTGCTGTGGGTCCGCAGGGTGCTCCAAATATCACAGCCAACCTCACCTCGTCCCTGCTGAGCGTCTGTGGGTGGAGCCAGACCATCAACCCTGAGGACGACACGGATCCTGGCCATGCTGACCTGGTCCTCTATATCACTAGGTAGCCGAGCTTTCTGATGGGTGCTGGCCAGCCAGCCTGGGAAGGCTGCTCCCTCAGCCTCCTGCCCTCTGCAAAGGTGACCCCAGGGCAGGCACGTGCCTTGGCACCACCCAAGTGACTGTTTTCTCTCACCGAGGTTTGACCTGGAGTTGCCTGATGGTAACCGGCAGGTGCGGGGCGTCACCCAGCTGGGCGGTGCCTGCTCCCCAACCTGGAGCTGCCTCATTACCGAGGACACTGGCTTCGACCTGGGAGTCACCATTGCCCATGAGATTGGGCACAGGTATGTAGCCCCACCAGCTGTCCCCAGGATCTGGCAAGGAGCTGACCTGGGTACCCAGGGTGGAGGTGGTCTTGGCAAGCAGTGGGTCCTTGTAGAGTTTCTCCAGAGGAGCCTGTACCCCTCACCCCGACAGACT
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CCCAGTCACCAAGGCCCCCTCTCACTCCGCTCCACTCCTCGGGCTGGCTCTCCTGAGGATGCACCAGCGTCACCCCCGGGCAAGATGCCCTCCCCTCTGTGTGGCCGGAATCCTTGCCTGTGGCTTTCTCCTGGGCTGCTGGGGACCCTCCCATTTCCAGCAGGTGGGCTCATTTGCAGGAGCGGGGGTATTCTGGGAGCCTCTGGGTGGGGTATTCTGAGCTACCTGGGGCGAGGGGAGTGCCAAATAGCTGACTACATCAGCTTTGGGGTTTGCGCTGGGCAGGGGAGTCTGTACTTGGGGCTTTGGGGGATGAAGTGTGCTCACTGAAGAGGGAGTTGGTGTCTCAGTACGACCTGCTCATTCGGTGAAGCTGAACAGACAGATACTAGTTTGTCCCAAACTGTGTAGGTTGCTCTTCTCTGCCTCTCCCTTCCTCTCCCTGTCTCTGATTTCCCCCTCTCCTTCTTGGTTGGCCTCACCCACCTCCTGCCTCCTGTCTCCCTCTTCATCCATCTCTTTTTGTTCTTTTTTCTTTCTCTCTCTCTCTTTTTTTTTTTTTTTTTTTTTTTAAGACATGGGGTCTTGTTATGTTGCCCCAGCTGGTCTCAAACTCCTGGACTCAAGTGATCCTCCCACCTCGGTCTCCCCAAGTGTTAGGATTACAGGCCAGAGCCACTATGCCCGGCCCCATCCATCTCTTTTTGTCTTGCAGAGTTGTCTTCAGGCTTTGGAGCCACAGGCCGTGTCTTCTTACTTGAGCCCTGGTGCTCCCTTAAAAGGTACTTGTCCTGGTGTCTTCTCTCCCGGGGGGAGTTTCTCAGGACTTTCAAGGGGTATCTCACCACTGAGTCAGTGGTCTGGGATTTTTGGTGGATCTGGAAGGAGAAGGTCAGAGAAGCTGCTGTCAACCCTGTTAATTAACTCTGTTACTTCCTGCCAAGTTGATATAAGCTGGTCTGGGTGTTCCAGCCAGGCCAGGGTTCTCACCCTAGCTTCTGTTAAATATCACAAGGGAACGGTCACCGATTGGCTGGCCCCTCCTGCCCCATGGCCTCTGCTGAGCTGGCTGATTTTCAGGAGCTCTTGTGGTTTCTGACCGTGGATGTAAATATTTATTCCTTCTGTGGGAAACAAGATAGGTACTGGCTCAGGCTACCTCCTAAGGCCATGGATTTCCTTATGATAAAGGCCTGTCCCCATTGCCCACAGGCCCATGTCTGTGACCTTCTCCGGTGCGAGCCCCCTTCCCAGTAGGGCCATTGGCAACTTGACTAATGGCTGATGGGGGCCAGAGGCAGGTGGGCTAGTGGTCAGGGGCAACAGGAGGGCAAGGCCCACTTTGTGACCTGGTTCTTTGTGGTCTAGGCCAGAGGCACACTGACCAGTGCCTGGGGCCACGCTGGGGGCTGGATGCAGCCGACGCTGTCTGGGTATCCCATAGCCTGGGTCCTTCCAGCGCTGCCGCTCCTGAAAGGCTGGGAGATCATTGCCCAGGGTCCCTGACCCTCTAAGGGCTCCCTTGGGAGAGGACAGTGAGGGCTGGCCTGGGCCCCTGCTTCCCAAGAGACCACTGGGCTCCACTCGTGTTCAGTTTCCTGTCGGGGTCCATGATGTTACTTGTGAAACACCTGTGCCCAGAGCAGGGTCCAGGAGGCAGGGCAGGGGCTTTCCCCTTTGGGCAGAGCCACCAGGGCAGTGGGAATCTTGTCTTGATGGGGTGACCCAAAGCACACAATAGCCCAACAGCTCCTCCTGGGCCCTGCCCTTTGCGTGCCTAGTCACTAATGGGGTCTGGCTCTTGGGGTGGGGGTGACACGCAATGTCTTGACTTCGGAAGGCCATCCTTCCAAGACCTGCCAGCCCCTTTCCTGTTAGCTTTCCACTGCTTGCTCTCTAGAACCATCGCCCTCTGCTCTCCCTCTCCCCCTCCAGGCCGCCCTCCTTCCCCTGGCTTCCAGAGGCAGAGGCAGAGGCAGAGGCGGGCTGCAGGCGGCATCCTACACCTGGAGCTGCTGGTGGCCGTGGGCCCCGATGTCTTCCAGGCTGACCAGGAGGACACAGAGCGCTATGTGCTCACCAACCTCAACATCGTGAGTGCCCCACGCTGGACTGTGCAGGTCCCCACGGCCAGGGCTGGTGACCAATGTCTGTGGGCTGGTGTATCTGGTAGTCTGAATACAGTGGGTTAAACTCAGGTAGAATGGCTCGGGGTTCTTCCTCTTCTCCCTCCCTCCCCTGGGTGGAGGTGGGTGAGGTCCCACACCCTCTCTAGGCTCCATGGCACATGCACACCCTGCAGCCTCTCACTACTCAAGTCCCTTCACCTGGGGCCACCCTCAAGCCTGGCCTCTTCCCCAGTATCCATTTGACCCCCACAAAGCTCAGCTAAAGCAACCCTGGCAAATGGGATACGGGCTGCTCACACTGCCCTCTGCACCCCGACCCTGCCCTCTCTCCATTCTCTTGTCCCCCGCTCAGAGTGGCGAGGACAGGTCACCCGTCTGAAGTCTAAACAGAGACTGCTGGCAAAGGAGATGCCCACCTTCATTTCTTGCTAGCACCTGAATCCCTGCAGCCCCCCTTCACTTGAAAGCTGGGGAAGGGCGGGCAGGGAAGCACTCCCCCACTAGCCGCCGTCTCAGAAAGACAAACAAGGCCAGGCGCGGTGGCTCATGCCTATAATCCCAGCACTTTGGGAGGCCAAGGCGGGTGGATCACCCGAAGTCAGGAGTTCAAGACCAGCCTGGCCAACATGGTGAAACCCCGTAGCTACTAAAAATACAAAACTTAGCTGGGCATGGTGGCAGGCGCCTGTAATCTGAGAGGAGCCTGCGATCTGAGAGGAGCAGCGTTTGACCGGAATATCCGACTCGTGACCATCTGTGTGCTCTCATCCCCTTGCTTTGGAGTTTGTTTTCCTTGCGTTAGTTGGCCTTCCTGAGCCATGAGCTGAGGAGCAACAGAGGCACGGCTGACTGTGCAGCACATTTTAGGAGCCCCCCGCCCCGCCCGGTTCCCACACATGCTGGTGGAGTAGCCTCTCCAGCTCTTCACACTCCGGGGGCCCCTGGGAGTCAGCAGCTGCCTGGGGCTGGCAATGCCCACCCGACGGGTTACCTCTCTCATCTGCCCTTGCACAGGGGGCAGAACTGCTTCGGGACCCGTCCCTGGGGGCTCAGTTTCGGGTGCACCTGGTGAAGATGGTCATTCTGACAGAGCCTGAGGTAGGCATGGAGCTGGAACTCAGCACACCATACAGAGCGGGAAGCCCAAGTCATCGCATCTCCATCCTCTTTAACCTCTTGTCCCGGATGCCCCAAGCAGCATGGATCACAGAATGCATTCAGCCAGACAGACCAGCTGCCCTCCCAGCTCTACCCAGCACTCAGCACAGGCTGCCTGACTACTTCTCTGAGCCTCAGTTGTCTCATCCCTAACACGGGCTAGTCATAGGGTTGTTAGGAGGACTAACTGGGAAACAAACCGACCGCAGTCAGCACCGTGCCTGGTTGGGGTGTCCTAAATGCAGGCTTTGCTGTGGGTCCGCAGGGTGCTCCAAATATCACAGCCAACCTCACCTCGTCCCTGCTGAGCGTCTGTGGGTGGAGCCAGACCATCAACCCTGAGGACGACACGGATCCTGGCCATGCTGACCTGGTCCTCTATATCACTAGGTAGCCGAGCTTTCTGATGGGTGCTGGCCAGCCAGCCTGGGAAGGCTGCTCCCTCAGCCTCCTGCCCTCTGCAAAGGTGACCCCAGGGCAGGCACGTGCCTTGGCACCACCCAAGTGACTGTTTTCTCTCACCGAGGTTTGACCTGGAGTTGCCTGATGGTAACCGGCAGGTGCGGGGCGTCACCCAGCTGGGCGGTGCCTGCTCCCCAACCTGGAGCTGCCTCATTACCGAGGACACTGGCTTCGACCTGGGAGTCACCATTGCCCATGAGATTGGGCACAGGTATGTAGCCCCACCAGCTGTCCCCAGGATCTGGCAAGGAGCTGACCTGGGTACCCAGGGTGGAGGTGGTCTTGGCAAGCAGTGGGTCCTTGTAGAGTTTCTCCAGAGGAGCCTGTACCCCTCACCCCGACAGACT
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Task1_train_13432
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Gene ADAMTS13 (ADAM metallopeptidase with thrombospondin type 1 motif 13), found on Chromosome 9, is impacted by this variant. What is the biological outcome — benign or pathogenic?
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Pathogenic; Upshaw-Schulman syndrome
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CTCTCACTCCGCTCCACTCCTCGGGCTGGCTCTCCTGAGGATGCACCAGCGTCACCCCCGGGCAAGATGCCCTCCCCTCTGTGTGGCCGGAATCCTTGCCTGTGGCTTTCTCCTGGGCTGCTGGGGACCCTCCCATTTCCAGCAGGTGGGCTCATTTGCAGGAGCGGGGGTATTCTGGGAGCCTCTGGGTGGGGTATTCTGAGCTACCTGGGGCGAGGGGAGTGCCAAATAGCTGACTACATCAGCTTTGGGGTTTGCGCTGGGCAGGGGAGTCTGTACTTGGGGCTTTGGGGGATGAAGTGTGCTCACTGAAGAGGGAGTTGGTGTCTCAGTACGACCTGCTCATTCGGTGAAGCTGAACAGACAGATACTAGTTTGTCCCAAACTGTGTAGGTTGCTCTTCTCTGCCTCTCCCTTCCTCTCCCTGTCTCTGATTTCCCCCTCTCCTTCTTGGTTGGCCTCACCCACCTCCTGCCTCCTGTCTCCCTCTTCATCCATCTCTTTTTGTTCTTTTTTCTTTCTCTCTCTCTCTTTTTTTTTTTTTTTTTTTTTTTAAGACATGGGGTCTTGTTATGTTGCCCCAGCTGGTCTCAAACTCCTGGACTCAAGTGATCCTCCCACCTCGGTCTCCCCAAGTGTTAGGATTACAGGCCAGAGCCACTATGCCCGGCCCCATCCATCTCTTTTTGTCTTGCAGAGTTGTCTTCAGGCTTTGGAGCCACAGGCCGTGTCTTCTTACTTGAGCCCTGGTGCTCCCTTAAAAGGTACTTGTCCTGGTGTCTTCTCTCCCGGGGGGAGTTTCTCAGGACTTTCAAGGGGTATCTCACCACTGAGTCAGTGGTCTGGGATTTTTGGTGGATCTGGAAGGAGAAGGTCAGAGAAGCTGCTGTCAACCCTGTTAATTAACTCTGTTACTTCCTGCCAAGTTGATATAAGCTGGTCTGGGTGTTCCAGCCAGGCCAGGGTTCTCACCCTAGCTTCTGTTAAATATCACAAGGGAACGGTCACCGATTGGCTGGCCCCTCCTGCCCCATGGCCTCTGCTGAGCTGGCTGATTTTCAGGAGCTCTTGTGGTTTCTGACCGTGGATGTAAATATTTATTCCTTCTGTGGGAAACAAGATAGGTACTGGCTCAGGCTACCTCCTAAGGCCATGGATTTCCTTATGATAAAGGCCTGTCCCCATTGCCCACAGGCCCATGTCTGTGACCTTCTCCGGTGCGAGCCCCCTTCCCAGTAGGGCCATTGGCAACTTGACTAATGGCTGATGGGGGCCAGAGGCAGGTGGGCTAGTGGTCAGGGGCAACAGGAGGGCAAGGCCCACTTTGTGACCTGGTTCTTTGTGGTCTAGGCCAGAGGCACACTGACCAGTGCCTGGGGCCACGCTGGGGGCTGGATGCAGCCGACGCTGTCTGGGTATCCCATAGCCTGGGTCCTTCCAGCGCTGCCGCTCCTGAAAGGCTGGGAGATCATTGCCCAGGGTCCCTGACCCTCTAAGGGCTCCCTTGGGAGAGGACAGTGAGGGCTGGCCTGGGCCCCTGCTTCCCAAGAGACCACTGGGCTCCACTCGTGTTCAGTTTCCTGTCGGGGTCCATGATGTTACTTGTGAAACACCTGTGCCCAGAGCAGGGTCCAGGAGGCAGGGCAGGGGCTTTCCCCTTTGGGCAGAGCCACCAGGGCAGTGGGAATCTTGTCTTGATGGGGTGACCCAAAGCACACAATAGCCCAACAGCTCCTCCTGGGCCCTGCCCTTTGCGTGCCTAGTCACTAATGGGGTCTGGCTCTTGGGGTGGGGGTGACACGCAATGTCTTGACTTCGGAAGGCCATCCTTCCAAGACCTGCCAGCCCCTTTCCTGTTAGCTTTCCACTGCTTGCTCTCTAGAACCATCGCCCTCTGCTCTCCCTCTCCCCCTCCAGGCCGCCCTCCTTCCCCTGGCTTCCAGAGGCAGAGGCAGAGGCAGAGGCGGGCTGCAGGCGGCATCCTACACCTGGAGCTGCTGGTGGCCGTGGGCCCCGATGTCTTCCAGGCTCACCAGGAGGACACAGAGCGCTATGTGCTCACCAACCTCAACATCGTGAGTGCCCCACGCTGGACTGTGCAGGTCCCCACGGCCAGGGCTGGTGACCAATGTCTGTGGGCTGGTGTATCTGGTAGTCTGAATACAGTGGGTTAAACTCAGGTAGAATGGCTCGGGGTTCTTCCTCTTCTCCCTCCCTCCCCTGGGTGGAGGTGGGTGAGGTCCCACACCCTCTCTAGGCTCCATGGCACATGCACACCCTGCAGCCTCTCACTACTCAAGTCCCTTCACCTGGGGCCACCCTCAAGCCTGGCCTCTTCCCCAGTATCCATTTGACCCCCACAAAGCTCAGCTAAAGCAACCCTGGCAAATGGGATACGGGCTGCTCACACTGCCCTCTGCACCCCGACCCTGCCCTCTCTCCATTCTCTTGTCCCCCGCTCAGAGTGGCGAGGACAGGTCACCCGTCTGAAGTCTAAACAGAGACTGCTGGCAAAGGAGATGCCCACCTTCATTTCTTGCTAGCACCTGAATCCCTGCAGCCCCCCTTCACTTGAAAGCTGGGGAAGGGCGGGCAGGGAAGCACTCCCCCACTAGCCGCCGTCTCAGAAAGACAAACAAGGCCAGGCGCGGTGGCTCATGCCTATAATCCCAGCACTTTGGGAGGCCAAGGCGGGTGGATCACCCGAAGTCAGGAGTTCAAGACCAGCCTGGCCAACATGGTGAAACCCCGTAGCTACTAAAAATACAAAACTTAGCTGGGCATGGTGGCAGGCGCCTGTAATCTGAGAGGAGCCTGCGATCTGAGAGGAGCAGCGTTTGACCGGAATATCCGACTCGTGACCATCTGTGTGCTCTCATCCCCTTGCTTTGGAGTTTGTTTTCCTTGCGTTAGTTGGCCTTCCTGAGCCATGAGCTGAGGAGCAACAGAGGCACGGCTGACTGTGCAGCACATTTTAGGAGCCCCCCGCCCCGCCCGGTTCCCACACATGCTGGTGGAGTAGCCTCTCCAGCTCTTCACACTCCGGGGGCCCCTGGGAGTCAGCAGCTGCCTGGGGCTGGCAATGCCCACCCGACGGGTTACCTCTCTCATCTGCCCTTGCACAGGGGGCAGAACTGCTTCGGGACCCGTCCCTGGGGGCTCAGTTTCGGGTGCACCTGGTGAAGATGGTCATTCTGACAGAGCCTGAGGTAGGCATGGAGCTGGAACTCAGCACACCATACAGAGCGGGAAGCCCAAGTCATCGCATCTCCATCCTCTTTAACCTCTTGTCCCGGATGCCCCAAGCAGCATGGATCACAGAATGCATTCAGCCAGACAGACCAGCTGCCCTCCCAGCTCTACCCAGCACTCAGCACAGGCTGCCTGACTACTTCTCTGAGCCTCAGTTGTCTCATCCCTAACACGGGCTAGTCATAGGGTTGTTAGGAGGACTAACTGGGAAACAAACCGACCGCAGTCAGCACCGTGCCTGGTTGGGGTGTCCTAAATGCAGGCTTTGCTGTGGGTCCGCAGGGTGCTCCAAATATCACAGCCAACCTCACCTCGTCCCTGCTGAGCGTCTGTGGGTGGAGCCAGACCATCAACCCTGAGGACGACACGGATCCTGGCCATGCTGACCTGGTCCTCTATATCACTAGGTAGCCGAGCTTTCTGATGGGTGCTGGCCAGCCAGCCTGGGAAGGCTGCTCCCTCAGCCTCCTGCCCTCTGCAAAGGTGACCCCAGGGCAGGCACGTGCCTTGGCACCACCCAAGTGACTGTTTTCTCTCACCGAGGTTTGACCTGGAGTTGCCTGATGGTAACCGGCAGGTGCGGGGCGTCACCCAGCTGGGCGGTGCCTGCTCCCCAACCTGGAGCTGCCTCATTACCGAGGACACTGGCTTCGACCTGGGAGTCACCATTGCCCATGAGATTGGGCACAGGTATGTAGCCCCACCAGCTGTCCCCAGGATCTGGCAAGGAGCTGACCTGGGTACCCAGGGTGGAGGTGGTCTTGGCAAGCAGTGGGTCCTTGTAGAGTTTCTCCAGAGGAGCCTGTACCCCTCACCCCGACAGACTCAGGTGTGAGGACAGGGG
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CTCTCACTCCGCTCCACTCCTCGGGCTGGCTCTCCTGAGGATGCACCAGCGTCACCCCCGGGCAAGATGCCCTCCCCTCTGTGTGGCCGGAATCCTTGCCTGTGGCTTTCTCCTGGGCTGCTGGGGACCCTCCCATTTCCAGCAGGTGGGCTCATTTGCAGGAGCGGGGGTATTCTGGGAGCCTCTGGGTGGGGTATTCTGAGCTACCTGGGGCGAGGGGAGTGCCAAATAGCTGACTACATCAGCTTTGGGGTTTGCGCTGGGCAGGGGAGTCTGTACTTGGGGCTTTGGGGGATGAAGTGTGCTCACTGAAGAGGGAGTTGGTGTCTCAGTACGACCTGCTCATTCGGTGAAGCTGAACAGACAGATACTAGTTTGTCCCAAACTGTGTAGGTTGCTCTTCTCTGCCTCTCCCTTCCTCTCCCTGTCTCTGATTTCCCCCTCTCCTTCTTGGTTGGCCTCACCCACCTCCTGCCTCCTGTCTCCCTCTTCATCCATCTCTTTTTGTTCTTTTTTCTTTCTCTCTCTCTCTTTTTTTTTTTTTTTTTTTTTTTAAGACATGGGGTCTTGTTATGTTGCCCCAGCTGGTCTCAAACTCCTGGACTCAAGTGATCCTCCCACCTCGGTCTCCCCAAGTGTTAGGATTACAGGCCAGAGCCACTATGCCCGGCCCCATCCATCTCTTTTTGTCTTGCAGAGTTGTCTTCAGGCTTTGGAGCCACAGGCCGTGTCTTCTTACTTGAGCCCTGGTGCTCCCTTAAAAGGTACTTGTCCTGGTGTCTTCTCTCCCGGGGGGAGTTTCTCAGGACTTTCAAGGGGTATCTCACCACTGAGTCAGTGGTCTGGGATTTTTGGTGGATCTGGAAGGAGAAGGTCAGAGAAGCTGCTGTCAACCCTGTTAATTAACTCTGTTACTTCCTGCCAAGTTGATATAAGCTGGTCTGGGTGTTCCAGCCAGGCCAGGGTTCTCACCCTAGCTTCTGTTAAATATCACAAGGGAACGGTCACCGATTGGCTGGCCCCTCCTGCCCCATGGCCTCTGCTGAGCTGGCTGATTTTCAGGAGCTCTTGTGGTTTCTGACCGTGGATGTAAATATTTATTCCTTCTGTGGGAAACAAGATAGGTACTGGCTCAGGCTACCTCCTAAGGCCATGGATTTCCTTATGATAAAGGCCTGTCCCCATTGCCCACAGGCCCATGTCTGTGACCTTCTCCGGTGCGAGCCCCCTTCCCAGTAGGGCCATTGGCAACTTGACTAATGGCTGATGGGGGCCAGAGGCAGGTGGGCTAGTGGTCAGGGGCAACAGGAGGGCAAGGCCCACTTTGTGACCTGGTTCTTTGTGGTCTAGGCCAGAGGCACACTGACCAGTGCCTGGGGCCACGCTGGGGGCTGGATGCAGCCGACGCTGTCTGGGTATCCCATAGCCTGGGTCCTTCCAGCGCTGCCGCTCCTGAAAGGCTGGGAGATCATTGCCCAGGGTCCCTGACCCTCTAAGGGCTCCCTTGGGAGAGGACAGTGAGGGCTGGCCTGGGCCCCTGCTTCCCAAGAGACCACTGGGCTCCACTCGTGTTCAGTTTCCTGTCGGGGTCCATGATGTTACTTGTGAAACACCTGTGCCCAGAGCAGGGTCCAGGAGGCAGGGCAGGGGCTTTCCCCTTTGGGCAGAGCCACCAGGGCAGTGGGAATCTTGTCTTGATGGGGTGACCCAAAGCACACAATAGCCCAACAGCTCCTCCTGGGCCCTGCCCTTTGCGTGCCTAGTCACTAATGGGGTCTGGCTCTTGGGGTGGGGGTGACACGCAATGTCTTGACTTCGGAAGGCCATCCTTCCAAGACCTGCCAGCCCCTTTCCTGTTAGCTTTCCACTGCTTGCTCTCTAGAACCATCGCCCTCTGCTCTCCCTCTCCCCCTCCAGGCCGCCCTCCTTCCCCTGGCTTCCAGAGGCAGAGGCAGAGGCAGAGGCGGGCTGCAGGCGGCATCCTACACCTGGAGCTGCTGGTGGCCGTGGGCCCCGATGTCTTCCAGGCTCACCAGGAGGACACAGAGTGCTATGTGCTCACCAACCTCAACATCGTGAGTGCCCCACGCTGGACTGTGCAGGTCCCCACGGCCAGGGCTGGTGACCAATGTCTGTGGGCTGGTGTATCTGGTAGTCTGAATACAGTGGGTTAAACTCAGGTAGAATGGCTCGGGGTTCTTCCTCTTCTCCCTCCCTCCCCTGGGTGGAGGTGGGTGAGGTCCCACACCCTCTCTAGGCTCCATGGCACATGCACACCCTGCAGCCTCTCACTACTCAAGTCCCTTCACCTGGGGCCACCCTCAAGCCTGGCCTCTTCCCCAGTATCCATTTGACCCCCACAAAGCTCAGCTAAAGCAACCCTGGCAAATGGGATACGGGCTGCTCACACTGCCCTCTGCACCCCGACCCTGCCCTCTCTCCATTCTCTTGTCCCCCGCTCAGAGTGGCGAGGACAGGTCACCCGTCTGAAGTCTAAACAGAGACTGCTGGCAAAGGAGATGCCCACCTTCATTTCTTGCTAGCACCTGAATCCCTGCAGCCCCCCTTCACTTGAAAGCTGGGGAAGGGCGGGCAGGGAAGCACTCCCCCACTAGCCGCCGTCTCAGAAAGACAAACAAGGCCAGGCGCGGTGGCTCATGCCTATAATCCCAGCACTTTGGGAGGCCAAGGCGGGTGGATCACCCGAAGTCAGGAGTTCAAGACCAGCCTGGCCAACATGGTGAAACCCCGTAGCTACTAAAAATACAAAACTTAGCTGGGCATGGTGGCAGGCGCCTGTAATCTGAGAGGAGCCTGCGATCTGAGAGGAGCAGCGTTTGACCGGAATATCCGACTCGTGACCATCTGTGTGCTCTCATCCCCTTGCTTTGGAGTTTGTTTTCCTTGCGTTAGTTGGCCTTCCTGAGCCATGAGCTGAGGAGCAACAGAGGCACGGCTGACTGTGCAGCACATTTTAGGAGCCCCCCGCCCCGCCCGGTTCCCACACATGCTGGTGGAGTAGCCTCTCCAGCTCTTCACACTCCGGGGGCCCCTGGGAGTCAGCAGCTGCCTGGGGCTGGCAATGCCCACCCGACGGGTTACCTCTCTCATCTGCCCTTGCACAGGGGGCAGAACTGCTTCGGGACCCGTCCCTGGGGGCTCAGTTTCGGGTGCACCTGGTGAAGATGGTCATTCTGACAGAGCCTGAGGTAGGCATGGAGCTGGAACTCAGCACACCATACAGAGCGGGAAGCCCAAGTCATCGCATCTCCATCCTCTTTAACCTCTTGTCCCGGATGCCCCAAGCAGCATGGATCACAGAATGCATTCAGCCAGACAGACCAGCTGCCCTCCCAGCTCTACCCAGCACTCAGCACAGGCTGCCTGACTACTTCTCTGAGCCTCAGTTGTCTCATCCCTAACACGGGCTAGTCATAGGGTTGTTAGGAGGACTAACTGGGAAACAAACCGACCGCAGTCAGCACCGTGCCTGGTTGGGGTGTCCTAAATGCAGGCTTTGCTGTGGGTCCGCAGGGTGCTCCAAATATCACAGCCAACCTCACCTCGTCCCTGCTGAGCGTCTGTGGGTGGAGCCAGACCATCAACCCTGAGGACGACACGGATCCTGGCCATGCTGACCTGGTCCTCTATATCACTAGGTAGCCGAGCTTTCTGATGGGTGCTGGCCAGCCAGCCTGGGAAGGCTGCTCCCTCAGCCTCCTGCCCTCTGCAAAGGTGACCCCAGGGCAGGCACGTGCCTTGGCACCACCCAAGTGACTGTTTTCTCTCACCGAGGTTTGACCTGGAGTTGCCTGATGGTAACCGGCAGGTGCGGGGCGTCACCCAGCTGGGCGGTGCCTGCTCCCCAACCTGGAGCTGCCTCATTACCGAGGACACTGGCTTCGACCTGGGAGTCACCATTGCCCATGAGATTGGGCACAGGTATGTAGCCCCACCAGCTGTCCCCAGGATCTGGCAAGGAGCTGACCTGGGTACCCAGGGTGGAGGTGGTCTTGGCAAGCAGTGGGTCCTTGTAGAGTTTCTCCAGAGGAGCCTGTACCCCTCACCCCGACAGACTCAGGTGTGAGGACAGGGG
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Task1_train_13433
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This variant affects the gene ADAMTS13 (ADAM metallopeptidase with thrombospondin type 1 motif 13) found on Chromosome 9. What is the clinical effect of this variant — benign or pathogenic? State the disease if applicable.
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Pathogenic; Upshaw-Schulman syndrome
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GTGACACGCAATGTCTTGACTTCGGAAGGCCATCCTTCCAAGACCTGCCAGCCCCTTTCCTGTTAGCTTTCCACTGCTTGCTCTCTAGAACCATCGCCCTCTGCTCTCCCTCTCCCCCTCCAGGCCGCCCTCCTTCCCCTGGCTTCCAGAGGCAGAGGCAGAGGCAGAGGCGGGCTGCAGGCGGCATCCTACACCTGGAGCTGCTGGTGGCCGTGGGCCCCGATGTCTTCCAGGCTCACCAGGAGGACACAGAGCGCTATGTGCTCACCAACCTCAACATCGTGAGTGCCCCACGCTGGACTGTGCAGGTCCCCACGGCCAGGGCTGGTGACCAATGTCTGTGGGCTGGTGTATCTGGTAGTCTGAATACAGTGGGTTAAACTCAGGTAGAATGGCTCGGGGTTCTTCCTCTTCTCCCTCCCTCCCCTGGGTGGAGGTGGGTGAGGTCCCACACCCTCTCTAGGCTCCATGGCACATGCACACCCTGCAGCCTCTCACTACTCAAGTCCCTTCACCTGGGGCCACCCTCAAGCCTGGCCTCTTCCCCAGTATCCATTTGACCCCCACAAAGCTCAGCTAAAGCAACCCTGGCAAATGGGATACGGGCTGCTCACACTGCCCTCTGCACCCCGACCCTGCCCTCTCTCCATTCTCTTGTCCCCCGCTCAGAGTGGCGAGGACAGGTCACCCGTCTGAAGTCTAAACAGAGACTGCTGGCAAAGGAGATGCCCACCTTCATTTCTTGCTAGCACCTGAATCCCTGCAGCCCCCCTTCACTTGAAAGCTGGGGAAGGGCGGGCAGGGAAGCACTCCCCCACTAGCCGCCGTCTCAGAAAGACAAACAAGGCCAGGCGCGGTGGCTCATGCCTATAATCCCAGCACTTTGGGAGGCCAAGGCGGGTGGATCACCCGAAGTCAGGAGTTCAAGACCAGCCTGGCCAACATGGTGAAACCCCGTAGCTACTAAAAATACAAAACTTAGCTGGGCATGGTGGCAGGCGCCTGTAATCTGAGAGGAGCCTGCGATCTGAGAGGAGCAGCGTTTGACCGGAATATCCGACTCGTGACCATCTGTGTGCTCTCATCCCCTTGCTTTGGAGTTTGTTTTCCTTGCGTTAGTTGGCCTTCCTGAGCCATGAGCTGAGGAGCAACAGAGGCACGGCTGACTGTGCAGCACATTTTAGGAGCCCCCCGCCCCGCCCGGTTCCCACACATGCTGGTGGAGTAGCCTCTCCAGCTCTTCACACTCCGGGGGCCCCTGGGAGTCAGCAGCTGCCTGGGGCTGGCAATGCCCACCCGACGGGTTACCTCTCTCATCTGCCCTTGCACAGGGGGCAGAACTGCTTCGGGACCCGTCCCTGGGGGCTCAGTTTCGGGTGCACCTGGTGAAGATGGTCATTCTGACAGAGCCTGAGGTAGGCATGGAGCTGGAACTCAGCACACCATACAGAGCGGGAAGCCCAAGTCATCGCATCTCCATCCTCTTTAACCTCTTGTCCCGGATGCCCCAAGCAGCATGGATCACAGAATGCATTCAGCCAGACAGACCAGCTGCCCTCCCAGCTCTACCCAGCACTCAGCACAGGCTGCCTGACTACTTCTCTGAGCCTCAGTTGTCTCATCCCTAACACGGGCTAGTCATAGGGTTGTTAGGAGGACTAACTGGGAAACAAACCGACCGCAGTCAGCACCGTGCCTGGTTGGGGTGTCCTAAATGCAGGCTTTGCTGTGGGTCCGCAGGGTGCTCCAAATATCACAGCCAACCTCACCTCGTCCCTGCTGAGCGTCTGTGGGTGGAGCCAGACCATCAACCCTGAGGACGACACGGATCCTGGCCATGCTGACCTGGTCCTCTATATCACTAGGTAGCCGAGCTTTCTGATGGGTGCTGGCCAGCCAGCCTGGGAAGGCTGCTCCCTCAGCCTCCTGCCCTCTGCAAAGGTGACCCCAGGGCAGGCACGTGCCTTGGCACCACCCAAGTGACTGTTTTCTCTCACCGAGGTTTGACCTGGAGTTGCCTGATGGTAACCGGCAGGTGCGGGGCGTCACCCAGCTGGGCGGTGCCTGCTCCCCAACCTGGAGCTGCCTCATTACCGAGGACACTGGCTTCGACCTGGGAGTCACCATTGCCCATGAGATTGGGCACAGGTATGTAGCCCCACCAGCTGTCCCCAGGATCTGGCAAGGAGCTGACCTGGGTACCCAGGGTGGAGGTGGTCTTGGCAAGCAGTGGGTCCTTGTAGAGTTTCTCCAGAGGAGCCTGTACCCCTCACCCCGACAGACTCAGGTGTGAGGACAGGGGAACCTGATACTGTTTGATTAAAAGAACTTTTTTTCCAAAAGACGAGCAAGACACCTTTAGCAGGTAGAAAATAACTTCTGTAGAAAATTCAGGTAAAGAAAGAGCAGGCTGTAAAAATTATCTCAAATCCCACCATTTAGAGATAATGTCTCTTCACATTTTGTATTTAATTTCAGTCTTTTCTTTACATACACACACATATTTCTTATTTGCAAAATTGGGATTTAGTTTGGATCCCTGAAAAAAAGGAAAATTGTGATTATGCTGTGCATTGCTTTGTTACCTGCTATTTCTTTTTCTTTTCTTTTCTTTTTTTTTTTTGAGATGAAGTTTCGCTCTTGTTGCCCAGGCTGGAGGGCAATGACGTGATCTCAGCTCATTGCAACCTCCACCTCCTGGGTGCAAGTGATTCTCCCACCTCAGCCTCCCAAGTAGCTGGGATTACAGGCATGTGCCACCACGCCCAGCTAATTTTGTATTTTTAGTAGAGACAGGGTTTCTCCATGTTGGTCAGGCTGGTCTCGAACTCCCAACCTCAGGTGATCCACCTGCCTCGGTCTCCCACAGTGCTGGGATTACAGGCGTGAGCCACTGCATCCAGCCTTTCTTTTTTCTTCCTAGGGTAAGTGCAGGATTTACCTGTTCTTTATGTAATAATATATCCCAAACATTATCCCAGGTATCTTAGAGGTGTGCACCGTAATTTATTTAATCAGTCCCCTCTTCTTGGATGTCTAGGTTGTCTGAACACGTCTTCCTGTTGTGAATGTTATGCATTCTTGTGGGCAAACCTTCACTCTTACCTATAACCATTTACCTAGAGTGATGGGTTTCTTTTCATTTCTTTAGTTTTTTAAGTATGAAAATAATACCCAATTGTTGTAAAAATTCAAACAGTGCAGAGATTTCTAAAGTAAAAAGTGAATTTCCACATTCCTTGCCCACCAACCCCCACCCGACCCCTTTCAACCCCTCTGAGCCTGGGAGGGTTGAGGCAGGGTTCCTGGGTGTGGGACAAGGCAGGGCTCCTTCTCCCTCAGAGGGAGCATAGTTCCCTTCTGCTCCTGTGATGCAGAAGACGTGAGCCCCCAAACTGGGGCTTAGCCTGGGAGGGTTCTTGGCTTCACCGAGGAAAGAATTCAAGAGGGAGCAGGTGGTGTTAGACAGCAACTTTGATTGATGTGGCAGTGGGCAGAGTGTACAGCCCTGTGACTGTATACAGCACAGCATAGCCCCTTTTGAAGCCAGGCTACCCCATAGACACTGTGCCCAAAAGAGCAGCTCAAAGGCAGGGCTGCAGTCCTAGTTAATACCCACTTCTAATTATATGCAAATTAAGGGGCCAGATTATGCAGAAATTTCTAGAAAAAGGGCAGTAACTTCTAGGTTTTCGTCATGGAAAAGGGGCAGTAACTTCTGGGTTTTGCCATGGCAATGGCAAACTGGTATGGCACACTGGTGGGCGTGTCTTATGGAAAGGGGCTTCCCACCCCTCCCTGTTTTAGCTAGTCCTCTGGTCCAGTGTCCAAGCGGGGCCTCCAGAGTGGAGTCCACCTCCTACCTCACCGGTGCCTGGCCTCTCCCACCCCATTAGGAGTCCTCCATCAGTTCCGCTTTGGGTAAAGCAAGCTCTGTTGTGACAGTTTGGAAACGGTTCACCTTCCTGGCCTAGGAATGCAAACAATGGCCAAGGGCAAGCACGTTTTAACTGAACTTTAAAATCGTGCTTTCCTCACAGTAGGTGAATTTCACGCTCAACACATCCATGTAAACAGTCCCCAGAGCAGCCCTTCA
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GTGACACGCAATGTCTTGACTTCGGAAGGCCATCCTTCCAAGACCTGCCAGCCCCTTTCCTGTTAGCTTTCCACTGCTTGCTCTCTAGAACCATCGCCCTCTGCTCTCCCTCTCCCCCTCCAGGCCGCCCTCCTTCCCCTGGCTTCCAGAGGCAGAGGCAGAGGCAGAGGCGGGCTGCAGGCGGCATCCTACACCTGGAGCTGCTGGTGGCCGTGGGCCCCGATGTCTTCCAGGCTCACCAGGAGGACACAGAGCGCTATGTGCTCACCAACCTCAACATCGTGAGTGCCCCACGCTGGACTGTGCAGGTCCCCACGGCCAGGGCTGGTGACCAATGTCTGTGGGCTGGTGTATCTGGTAGTCTGAATACAGTGGGTTAAACTCAGGTAGAATGGCTCGGGGTTCTTCCTCTTCTCCCTCCCTCCCCTGGGTGGAGGTGGGTGAGGTCCCACACCCTCTCTAGGCTCCATGGCACATGCACACCCTGCAGCCTCTCACTACTCAAGTCCCTTCACCTGGGGCCACCCTCAAGCCTGGCCTCTTCCCCAGTATCCATTTGACCCCCACAAAGCTCAGCTAAAGCAACCCTGGCAAATGGGATACGGGCTGCTCACACTGCCCTCTGCACCCCGACCCTGCCCTCTCTCCATTCTCTTGTCCCCCGCTCAGAGTGGCGAGGACAGGTCACCCGTCTGAAGTCTAAACAGAGACTGCTGGCAAAGGAGATGCCCACCTTCATTTCTTGCTAGCACCTGAATCCCTGCAGCCCCCCTTCACTTGAAAGCTGGGGAAGGGCGGGCAGGGAAGCACTCCCCCACTAGCCGCCGTCTCAGAAAGACAAACAAGGCCAGGCGCGGTGGCTCATGCCTATAATCCCAGCACTTTGGGAGGCCAAGGCGGGTGGATCACCCGAAGTCAGGAGTTCAAGACCAGCCTGGCCAACATGGTGAAACCCCGTAGCTACTAAAAATACAAAACTTAGCTGGGCATGGTGGCAGGCGCCTGTAATCTGAGAGGAGCCTGCGATCTGAGAGGAGCAGCGTTTGACCGGAATATCCGACTCGTGACCATCTGTGTGCTCTCATCCCCTTGCTTTGGAGTTTGTTTTCCTTGCGTTAGTTGGCCTTCCTGAGCCATGAGCTGAGGAGCAACAGAGGCACGGCTGACTGTGCAGCACATTTTAGGAGCCCCCCGCCCCGCCCGGTTCCCACACATGCTGGTGGAGTAGCCTCTCCAGCTCTTCACACTCCGGGGGCCCCTGGGAGTCAGCAGCTGCCTGGGGCTGGCAATGCCCACCCGACGGGTTACCTCTCTCATCTGCCCTTGCACAGGGGGCAGAACTGCTTCGGGACCCGTCCCTGGGGGCTCAGTTTCGGGTGCACCTGGTGAAGATGGTCATTCTGACAGAGCCTGAGGTAGGCATGGAGCTGGAACTCAGCACACCATACAGAGCGGGAAGCCCAAGTCATCGCATCTCCATCCTCTTTAACCTCTTGTCCCGGATGCCCCAAGCAGCATGGATCACAGAATGCATTCAGCCAGACAGACCAGCTGCCCTCCCAGCTCTACCCAGCACTCAGCACAGGCTGCCTGACTACTTCTCTGAGCCTCAGTTGTCTCATCCCTAACACGGGCTAGTCATAGGGTTGTTAGGAGGACTAACTGGGAAACAAACCGACCGCAGTCAGCACCGTGCCTGGTTGGGGTGTCCTAAATGCAGGCTTTGCTGTGGGTCCGCAGGGTGCTCCAAATATCACAGCCAACCTCACCTCGTCCCTGCTGAGCGTCTGTGGGTGGAGCCAGACCATCAACCCTGAGGACGACACGGATCCTGGCCATGCTGACCTGGTCCTCTATATCACTAGGTAGCCGAGCTTTCTGATGGGTGCTGGCCAGCCAGCCTGGGAAGGCTGCTCCCTCAGCCTCCTGCCCTCTGCAAAGGTGACCCCAGGGCAGGCACGTGCCTTGGCACCACCCAAGTGACTGTTTTCTCTCACCGAGGTTTGACCTGGAGTTGCCTGATGGTAACCGGCAGGTGCGGGGCGTCATCCAGCTGGGCGGTGCCTGCTCCCCAACCTGGAGCTGCCTCATTACCGAGGACACTGGCTTCGACCTGGGAGTCACCATTGCCCATGAGATTGGGCACAGGTATGTAGCCCCACCAGCTGTCCCCAGGATCTGGCAAGGAGCTGACCTGGGTACCCAGGGTGGAGGTGGTCTTGGCAAGCAGTGGGTCCTTGTAGAGTTTCTCCAGAGGAGCCTGTACCCCTCACCCCGACAGACTCAGGTGTGAGGACAGGGGAACCTGATACTGTTTGATTAAAAGAACTTTTTTTCCAAAAGACGAGCAAGACACCTTTAGCAGGTAGAAAATAACTTCTGTAGAAAATTCAGGTAAAGAAAGAGCAGGCTGTAAAAATTATCTCAAATCCCACCATTTAGAGATAATGTCTCTTCACATTTTGTATTTAATTTCAGTCTTTTCTTTACATACACACACATATTTCTTATTTGCAAAATTGGGATTTAGTTTGGATCCCTGAAAAAAAGGAAAATTGTGATTATGCTGTGCATTGCTTTGTTACCTGCTATTTCTTTTTCTTTTCTTTTCTTTTTTTTTTTTGAGATGAAGTTTCGCTCTTGTTGCCCAGGCTGGAGGGCAATGACGTGATCTCAGCTCATTGCAACCTCCACCTCCTGGGTGCAAGTGATTCTCCCACCTCAGCCTCCCAAGTAGCTGGGATTACAGGCATGTGCCACCACGCCCAGCTAATTTTGTATTTTTAGTAGAGACAGGGTTTCTCCATGTTGGTCAGGCTGGTCTCGAACTCCCAACCTCAGGTGATCCACCTGCCTCGGTCTCCCACAGTGCTGGGATTACAGGCGTGAGCCACTGCATCCAGCCTTTCTTTTTTCTTCCTAGGGTAAGTGCAGGATTTACCTGTTCTTTATGTAATAATATATCCCAAACATTATCCCAGGTATCTTAGAGGTGTGCACCGTAATTTATTTAATCAGTCCCCTCTTCTTGGATGTCTAGGTTGTCTGAACACGTCTTCCTGTTGTGAATGTTATGCATTCTTGTGGGCAAACCTTCACTCTTACCTATAACCATTTACCTAGAGTGATGGGTTTCTTTTCATTTCTTTAGTTTTTTAAGTATGAAAATAATACCCAATTGTTGTAAAAATTCAAACAGTGCAGAGATTTCTAAAGTAAAAAGTGAATTTCCACATTCCTTGCCCACCAACCCCCACCCGACCCCTTTCAACCCCTCTGAGCCTGGGAGGGTTGAGGCAGGGTTCCTGGGTGTGGGACAAGGCAGGGCTCCTTCTCCCTCAGAGGGAGCATAGTTCCCTTCTGCTCCTGTGATGCAGAAGACGTGAGCCCCCAAACTGGGGCTTAGCCTGGGAGGGTTCTTGGCTTCACCGAGGAAAGAATTCAAGAGGGAGCAGGTGGTGTTAGACAGCAACTTTGATTGATGTGGCAGTGGGCAGAGTGTACAGCCCTGTGACTGTATACAGCACAGCATAGCCCCTTTTGAAGCCAGGCTACCCCATAGACACTGTGCCCAAAAGAGCAGCTCAAAGGCAGGGCTGCAGTCCTAGTTAATACCCACTTCTAATTATATGCAAATTAAGGGGCCAGATTATGCAGAAATTTCTAGAAAAAGGGCAGTAACTTCTAGGTTTTCGTCATGGAAAAGGGGCAGTAACTTCTGGGTTTTGCCATGGCAATGGCAAACTGGTATGGCACACTGGTGGGCGTGTCTTATGGAAAGGGGCTTCCCACCCCTCCCTGTTTTAGCTAGTCCTCTGGTCCAGTGTCCAAGCGGGGCCTCCAGAGTGGAGTCCACCTCCTACCTCACCGGTGCCTGGCCTCTCCCACCCCATTAGGAGTCCTCCATCAGTTCCGCTTTGGGTAAAGCAAGCTCTGTTGTGACAGTTTGGAAACGGTTCACCTTCCTGGCCTAGGAATGCAAACAATGGCCAAGGGCAAGCACGTTTTAACTGAACTTTAAAATCGTGCTTTCCTCACAGTAGGTGAATTTCACGCTCAACACATCCATGTAAACAGTCCCCAGAGCAGCCCTTCA
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Task1_train_13434
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Gene ADAMTS13 (ADAM metallopeptidase with thrombospondin type 1 motif 13), found on Chromosome 9, is impacted by this variant. What is the biological outcome — benign or pathogenic?
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Pathogenic; Upshaw-Schulman syndrome
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TCTCTTCACATTTTGTATTTAATTTCAGTCTTTTCTTTACATACACACACATATTTCTTATTTGCAAAATTGGGATTTAGTTTGGATCCCTGAAAAAAAGGAAAATTGTGATTATGCTGTGCATTGCTTTGTTACCTGCTATTTCTTTTTCTTTTCTTTTCTTTTTTTTTTTTGAGATGAAGTTTCGCTCTTGTTGCCCAGGCTGGAGGGCAATGACGTGATCTCAGCTCATTGCAACCTCCACCTCCTGGGTGCAAGTGATTCTCCCACCTCAGCCTCCCAAGTAGCTGGGATTACAGGCATGTGCCACCACGCCCAGCTAATTTTGTATTTTTAGTAGAGACAGGGTTTCTCCATGTTGGTCAGGCTGGTCTCGAACTCCCAACCTCAGGTGATCCACCTGCCTCGGTCTCCCACAGTGCTGGGATTACAGGCGTGAGCCACTGCATCCAGCCTTTCTTTTTTCTTCCTAGGGTAAGTGCAGGATTTACCTGTTCTTTATGTAATAATATATCCCAAACATTATCCCAGGTATCTTAGAGGTGTGCACCGTAATTTATTTAATCAGTCCCCTCTTCTTGGATGTCTAGGTTGTCTGAACACGTCTTCCTGTTGTGAATGTTATGCATTCTTGTGGGCAAACCTTCACTCTTACCTATAACCATTTACCTAGAGTGATGGGTTTCTTTTCATTTCTTTAGTTTTTTAAGTATGAAAATAATACCCAATTGTTGTAAAAATTCAAACAGTGCAGAGATTTCTAAAGTAAAAAGTGAATTTCCACATTCCTTGCCCACCAACCCCCACCCGACCCCTTTCAACCCCTCTGAGCCTGGGAGGGTTGAGGCAGGGTTCCTGGGTGTGGGACAAGGCAGGGCTCCTTCTCCCTCAGAGGGAGCATAGTTCCCTTCTGCTCCTGTGATGCAGAAGACGTGAGCCCCCAAACTGGGGCTTAGCCTGGGAGGGTTCTTGGCTTCACCGAGGAAAGAATTCAAGAGGGAGCAGGTGGTGTTAGACAGCAACTTTGATTGATGTGGCAGTGGGCAGAGTGTACAGCCCTGTGACTGTATACAGCACAGCATAGCCCCTTTTGAAGCCAGGCTACCCCATAGACACTGTGCCCAAAAGAGCAGCTCAAAGGCAGGGCTGCAGTCCTAGTTAATACCCACTTCTAATTATATGCAAATTAAGGGGCCAGATTATGCAGAAATTTCTAGAAAAAGGGCAGTAACTTCTAGGTTTTCGTCATGGAAAAGGGGCAGTAACTTCTGGGTTTTGCCATGGCAATGGCAAACTGGTATGGCACACTGGTGGGCGTGTCTTATGGAAAGGGGCTTCCCACCCCTCCCTGTTTTAGCTAGTCCTCTGGTCCAGTGTCCAAGCGGGGCCTCCAGAGTGGAGTCCACCTCCTACCTCACCGGTGCCTGGCCTCTCCCACCCCATTAGGAGTCCTCCATCAGTTCCGCTTTGGGTAAAGCAAGCTCTGTTGTGACAGTTTGGAAACGGTTCACCTTCCTGGCCTAGGAATGCAAACAATGGCCAAGGGCAAGCACGTTTTAACTGAACTTTAAAATCGTGCTTTCCTCACAGTAGGTGAATTTCACGCTCAACACATCCATGTAAACAGTCCCCAGAGCAGCCCTTCAAGGCCCCGGCCAGTCCCCACCTCCCCACAGACTCCTAACACCATGATTTAATGTGGCTTGCACATTTTTAAAGGCTTTTGATATTTATTAGCAAAAGATGCGAGAGCCACCCTGCTGGGCTAGCGCTCCCTTCTGGGGGAAACTGAGGCAGGGCGCACGCGACCCTCTCCACTGCGCCCAGTTAGCAGATGGCGGCGTCAGGGGTCGACCCGGGTCGGAAAACTCGCTGGCGCTGCGGCACTAGGGCGCCGGGCCGCTGACTCGCCGACCCCCGTCCCGCCCCCACCCCCGCCCCCGCCCCTGCCGGCCGCCTTAGCGCAACTCCCCGCCCCCCGACCAGCTTCGGCCTGGAGCACGACGGCGCGCCCGGCAGCGGCTGCGGCCCCAGCGGACACGTGATGGCTTCGGACGGCGCCGCGCCCCGCGCCGGCCTCGCCTGGTCCCCCTGCAGCCGCCGGCAGCTGCTGAGCCTGCTCAGGTAGCGGCCGCCCCGTGGGAGGGGCGCGCGAGCCTCCAGCCAGCCCGCTGGGCCGCCAGCGCCACCTCTCTCTACGTCCGTCCCCACTCCGCATTCAGCCCTCCTTCCTGTCCCACCCCTCCGTCCAACCCACCCCTCCGTCCAACCCCGCGCCCACCGCTCCGTCCGTGGAGGGGCGGGCGCGCGAGCCTCCAGCCAGCCCGCTGGGCCGCCCGCGCCACCCCTCCCTACGTCCGTCCCCACCTCTCCCTACGTCCGTCCCCACTCCGCATTCAGCCCTCCTTCCTGTCCTACCTCTCCATCCTGACCCACTCCTCCGTCCAACCCCGCGCCCACAGCTCCGTCCCATCCCGCTGCGCCCACTCCTGCGCCCACCCCTCCGTCCCAACCCCTGCACCCACCCCCCCGTCCCACCCACCTGCCCCACCCCCTGCACCTCCCCCCGTGCTGTCCCACTCTGCGGCCACCCTTCTGTCCAACCCCTGCGCCCACCGCTCCGTTCCACCCCCTCCCTGCGCCCACCCCTGCGTCCTCCCTCGCCCCCTTGCGCCCACACTTTCGTTCCAGCCAATCTGGGCACGCACCCCTCCGTCCATCCCCATCCCGCCCCTTGACTCCACATACACTCCCTGGTTCTCTCCCACTTGCCTACACCCACCCCTGCATCCTACCCTCCTCCATCCACCCCTCCATCTCAGCCCCCTGCACCCACCCCGTTCCTGGGCCCACCCTGTTCCTGCACCCACCCCCTCACTTCACCCCCTTACCCTTCGTCTGCCTCCACCCGCCCCTACCCCTCCGTCCACTCTCCACGCTCCATCAGTCCCACACCCCTATCTCCCCCACCCGCGTACATGTATCCCTGCGTCCCCTTCCCGCCGACCGCACCGCTCCCGGGCCTAACCTGCATCTGCTCCATCCCACTCAGACCCGTCCCTCCGTCGCCGCTCCCTCTGCTGGCCACCCACCTCTGCGCCGGCAGGAGCCTTAGTCTTGGTCCCAGCCAAGAGCCGGCTCCTGGTGGGGGGCGCGGGCCGAGAACTCCTGTTCCCACTCACAAAAGGCCACGCTTCCAAACGCTTCCATCCTCGTGCCCACTCCTCCGTCCCGCCTCCTCCCGGTGTACACCCCGGGACTGAGCCGGGCCTGAGCCGGGCCTTGTCGCAGCGCAGGACGGGCGCGCTGCGTGTGGGACCCGCCGCGGCCTCAACCCGGGTCCGCGGGGCACCCGCCGGATGCGCAGCCTGGCCTCTACTACAGCGCCAACGAGCAGTGCCGCGTGGCCTTCGGCCCCAAGGCTGTCGCCTGCACCTTCGCCAGGGAGCACCTGGTGAGTCTGCCGGCGGTGGCCTGGGATTGGCTGTGAGGTCCCTCCGCATCACCCAGCTCACGTCCCCCAAAACGTGCATGGTGAGAACCTGCTGGGTGCCGTGCTAGGCTGAGGTACTAAGCCAGGGCGGCTTAGTTTAATGCTGTCTGTGCCCTCTAGAAATTATTTAAAATGTTTGAACAAAAGCTCCAACATTTTTGTTTGACTGGGCCCCACAAATTATGTAGCTAGTCCTGGGAGGGCCCCTGTGCCCAAGGACTCCTGGCTGAGTGAGGACACCAATCTTAAACAGTTACCAAGGACTTCCCCATCTATTGTGGCTGGAGTCAGACTGGAGGGCTTCCTGGAGGAAGTGGCCTCTAAACTGAACCCACAGCAGAAGTGGGGCTGGTAGGGGGAGGGGAGATGAAGGAGAGCAGGCACCCCAAAAGACAGACTTCCTCGCAGGATTGCATAGGACATTCATGGGCTCCAGGCACTTTTGCCTTGATGGGCCCCTTCCTCCACAAAAAAATTGAGAATTATGTTTTAATATTCTTATACAATGTATAAAGTTTTATGTGTTACTATAAATACAAGTCTTTTTTTTTCCTATTTTTTTTTTTTTTTGAGACAGAGTCTCCCTCTCTGCTCACTGCAGGC
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TCTCTTCACATTTTGTATTTAATTTCAGTCTTTTCTTTACATACACACACATATTTCTTATTTGCAAAATTGGGATTTAGTTTGGATCCCTGAAAAAAAGGAAAATTGTGATTATGCTGTGCATTGCTTTGTTACCTGCTATTTCTTTTTCTTTTCTTTTCTTTTTTTTTTTTGAGATGAAGTTTCGCTCTTGTTGCCCAGGCTGGAGGGCAATGACGTGATCTCAGCTCATTGCAACCTCCACCTCCTGGGTGCAAGTGATTCTCCCACCTCAGCCTCCCAAGTAGCTGGGATTACAGGCATGTGCCACCACGCCCAGCTAATTTTGTATTTTTAGTAGAGACAGGGTTTCTCCATGTTGGTCAGGCTGGTCTCGAACTCCCAACCTCAGGTGATCCACCTGCCTCGGTCTCCCACAGTGCTGGGATTACAGGCGTGAGCCACTGCATCCAGCCTTTCTTTTTTCTTCCTAGGGTAAGTGCAGGATTTACCTGTTCTTTATGTAATAATATATCCCAAACATTATCCCAGGTATCTTAGAGGTGTGCACCGTAATTTATTTAATCAGTCCCCTCTTCTTGGATGTCTAGGTTGTCTGAACACGTCTTCCTGTTGTGAATGTTATGCATTCTTGTGGGCAAACCTTCACTCTTACCTATAACCATTTACCTAGAGTGATGGGTTTCTTTTCATTTCTTTAGTTTTTTAAGTATGAAAATAATACCCAATTGTTGTAAAAATTCAAACAGTGCAGAGATTTCTAAAGTAAAAAGTGAATTTCCACATTCCTTGCCCACCAACCCCCACCCGACCCCTTTCAACCCCTCTGAGCCTGGGAGGGTTGAGGCAGGGTTCCTGGGTGTGGGACAAGGCAGGGCTCCTTCTCCCTCAGAGGGAGCATAGTTCCCTTCTGCTCCTGTGATGCAGAAGACGTGAGCCCCCAAACTGGGGCTTAGCCTGGGAGGGTTCTTGGCTTCACCGAGGAAAGAATTCAAGAGGGAGCAGGTGGTGTTAGACAGCAACTTTGATTGATGTGGCAGTGGGCAGAGTGTACAGCCCTGTGACTGTATACAGCACAGCATAGCCCCTTTTGAAGCCAGGCTACCCCATAGACACTGTGCCCAAAAGAGCAGCTCAAAGGCAGGGCTGCAGTCCTAGTTAATACCCACTTCTAATTATATGCAAATTAAGGGGCCAGATTATGCAGAAATTTCTAGAAAAAGGGCAGTAACTTCTAGGTTTTCGTCATGGAAAAGGGGCAGTAACTTCTGGGTTTTGCCATGGCAATGGCAAACTGGTATGGCACACTGGTGGGCGTGTCTTATGGAAAGGGGCTTCCCACCCCTCCCTGTTTTAGCTAGTCCTCTGGTCCAGTGTCCAAGCGGGGCCTCCAGAGTGGAGTCCACCTCCTACCTCACCGGTGCCTGGCCTCTCCCACCCCATTAGGAGTCCTCCATCAGTTCCGCTTTGGGTAAAGCAAGCTCTGTTGTGACAGTTTGGAAACGGTTCACCTTCCTGGCCTAGGAATGCAAACAATGGCCAAGGGCAAGCACGTTTTAACTGAACTTTAAAATCGTGCTTTCCTCACAGTAGGTGAATTTCACGCTCAACACATCCATGTAAACAGTCCCCAGAGCAGCCCTTCAAGGCCCCGGCCAGTCCCCACCTCCCCACAGACTCCTAACACCATGATTTAATGTGGCTTGCACATTTTTAAAGGCTTTTGATATTTATTAGCAAAAGATGCGAGAGCCACCCTGCTGGGCTAGCGCTCCCTTCTGGGGGAAACTGAGGCAGGGCGCACGCGACCCTCTCCACTGCGCCCAGTTAGCAGATGGCGGCGTCAGGGGTCGACCCGGGTCGGAAAACTCGCTGGCGCTGCGGCACTAGGGCGCCGGGCCGCTGACTCGCCGACCCCCGTCCCGCCCCCACCCCCGCCCCCGCCCCTGCCGGCCGCCTTAGCGCAACTCCCCGCCCCCCGACCAGCTTCGGCCTGGAGCACGACGGCGCGCCCGGCAGCGGCTGCGGCCCCAGCGGACACGTGATGGTTTCGGACGGCGCCGCGCCCCGCGCCGGCCTCGCCTGGTCCCCCTGCAGCCGCCGGCAGCTGCTGAGCCTGCTCAGGTAGCGGCCGCCCCGTGGGAGGGGCGCGCGAGCCTCCAGCCAGCCCGCTGGGCCGCCAGCGCCACCTCTCTCTACGTCCGTCCCCACTCCGCATTCAGCCCTCCTTCCTGTCCCACCCCTCCGTCCAACCCACCCCTCCGTCCAACCCCGCGCCCACCGCTCCGTCCGTGGAGGGGCGGGCGCGCGAGCCTCCAGCCAGCCCGCTGGGCCGCCCGCGCCACCCCTCCCTACGTCCGTCCCCACCTCTCCCTACGTCCGTCCCCACTCCGCATTCAGCCCTCCTTCCTGTCCTACCTCTCCATCCTGACCCACTCCTCCGTCCAACCCCGCGCCCACAGCTCCGTCCCATCCCGCTGCGCCCACTCCTGCGCCCACCCCTCCGTCCCAACCCCTGCACCCACCCCCCCGTCCCACCCACCTGCCCCACCCCCTGCACCTCCCCCCGTGCTGTCCCACTCTGCGGCCACCCTTCTGTCCAACCCCTGCGCCCACCGCTCCGTTCCACCCCCTCCCTGCGCCCACCCCTGCGTCCTCCCTCGCCCCCTTGCGCCCACACTTTCGTTCCAGCCAATCTGGGCACGCACCCCTCCGTCCATCCCCATCCCGCCCCTTGACTCCACATACACTCCCTGGTTCTCTCCCACTTGCCTACACCCACCCCTGCATCCTACCCTCCTCCATCCACCCCTCCATCTCAGCCCCCTGCACCCACCCCGTTCCTGGGCCCACCCTGTTCCTGCACCCACCCCCTCACTTCACCCCCTTACCCTTCGTCTGCCTCCACCCGCCCCTACCCCTCCGTCCACTCTCCACGCTCCATCAGTCCCACACCCCTATCTCCCCCACCCGCGTACATGTATCCCTGCGTCCCCTTCCCGCCGACCGCACCGCTCCCGGGCCTAACCTGCATCTGCTCCATCCCACTCAGACCCGTCCCTCCGTCGCCGCTCCCTCTGCTGGCCACCCACCTCTGCGCCGGCAGGAGCCTTAGTCTTGGTCCCAGCCAAGAGCCGGCTCCTGGTGGGGGGCGCGGGCCGAGAACTCCTGTTCCCACTCACAAAAGGCCACGCTTCCAAACGCTTCCATCCTCGTGCCCACTCCTCCGTCCCGCCTCCTCCCGGTGTACACCCCGGGACTGAGCCGGGCCTGAGCCGGGCCTTGTCGCAGCGCAGGACGGGCGCGCTGCGTGTGGGACCCGCCGCGGCCTCAACCCGGGTCCGCGGGGCACCCGCCGGATGCGCAGCCTGGCCTCTACTACAGCGCCAACGAGCAGTGCCGCGTGGCCTTCGGCCCCAAGGCTGTCGCCTGCACCTTCGCCAGGGAGCACCTGGTGAGTCTGCCGGCGGTGGCCTGGGATTGGCTGTGAGGTCCCTCCGCATCACCCAGCTCACGTCCCCCAAAACGTGCATGGTGAGAACCTGCTGGGTGCCGTGCTAGGCTGAGGTACTAAGCCAGGGCGGCTTAGTTTAATGCTGTCTGTGCCCTCTAGAAATTATTTAAAATGTTTGAACAAAAGCTCCAACATTTTTGTTTGACTGGGCCCCACAAATTATGTAGCTAGTCCTGGGAGGGCCCCTGTGCCCAAGGACTCCTGGCTGAGTGAGGACACCAATCTTAAACAGTTACCAAGGACTTCCCCATCTATTGTGGCTGGAGTCAGACTGGAGGGCTTCCTGGAGGAAGTGGCCTCTAAACTGAACCCACAGCAGAAGTGGGGCTGGTAGGGGGAGGGGAGATGAAGGAGAGCAGGCACCCCAAAAGACAGACTTCCTCGCAGGATTGCATAGGACATTCATGGGCTCCAGGCACTTTTGCCTTGATGGGCCCCTTCCTCCACAAAAAAATTGAGAATTATGTTTTAATATTCTTATACAATGTATAAAGTTTTATGTGTTACTATAAATACAAGTCTTTTTTTTTCCTATTTTTTTTTTTTTTTGAGACAGAGTCTCCCTCTCTGCTCACTGCAGGC
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Task1_train_13435
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This is a variant in ADAMTS13, LOC130002910 (ADAM metallopeptidase with thrombospondin type 1 motif 13| ATAC-STARR-seq lymphoblastoid silent region 20458), located on Chromosome 9. Is this mutation a likely cause of disease or not?
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Pathogenic; Upshaw-Schulman syndrome
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TTCTTATTTGCAAAATTGGGATTTAGTTTGGATCCCTGAAAAAAAGGAAAATTGTGATTATGCTGTGCATTGCTTTGTTACCTGCTATTTCTTTTTCTTTTCTTTTCTTTTTTTTTTTTGAGATGAAGTTTCGCTCTTGTTGCCCAGGCTGGAGGGCAATGACGTGATCTCAGCTCATTGCAACCTCCACCTCCTGGGTGCAAGTGATTCTCCCACCTCAGCCTCCCAAGTAGCTGGGATTACAGGCATGTGCCACCACGCCCAGCTAATTTTGTATTTTTAGTAGAGACAGGGTTTCTCCATGTTGGTCAGGCTGGTCTCGAACTCCCAACCTCAGGTGATCCACCTGCCTCGGTCTCCCACAGTGCTGGGATTACAGGCGTGAGCCACTGCATCCAGCCTTTCTTTTTTCTTCCTAGGGTAAGTGCAGGATTTACCTGTTCTTTATGTAATAATATATCCCAAACATTATCCCAGGTATCTTAGAGGTGTGCACCGTAATTTATTTAATCAGTCCCCTCTTCTTGGATGTCTAGGTTGTCTGAACACGTCTTCCTGTTGTGAATGTTATGCATTCTTGTGGGCAAACCTTCACTCTTACCTATAACCATTTACCTAGAGTGATGGGTTTCTTTTCATTTCTTTAGTTTTTTAAGTATGAAAATAATACCCAATTGTTGTAAAAATTCAAACAGTGCAGAGATTTCTAAAGTAAAAAGTGAATTTCCACATTCCTTGCCCACCAACCCCCACCCGACCCCTTTCAACCCCTCTGAGCCTGGGAGGGTTGAGGCAGGGTTCCTGGGTGTGGGACAAGGCAGGGCTCCTTCTCCCTCAGAGGGAGCATAGTTCCCTTCTGCTCCTGTGATGCAGAAGACGTGAGCCCCCAAACTGGGGCTTAGCCTGGGAGGGTTCTTGGCTTCACCGAGGAAAGAATTCAAGAGGGAGCAGGTGGTGTTAGACAGCAACTTTGATTGATGTGGCAGTGGGCAGAGTGTACAGCCCTGTGACTGTATACAGCACAGCATAGCCCCTTTTGAAGCCAGGCTACCCCATAGACACTGTGCCCAAAAGAGCAGCTCAAAGGCAGGGCTGCAGTCCTAGTTAATACCCACTTCTAATTATATGCAAATTAAGGGGCCAGATTATGCAGAAATTTCTAGAAAAAGGGCAGTAACTTCTAGGTTTTCGTCATGGAAAAGGGGCAGTAACTTCTGGGTTTTGCCATGGCAATGGCAAACTGGTATGGCACACTGGTGGGCGTGTCTTATGGAAAGGGGCTTCCCACCCCTCCCTGTTTTAGCTAGTCCTCTGGTCCAGTGTCCAAGCGGGGCCTCCAGAGTGGAGTCCACCTCCTACCTCACCGGTGCCTGGCCTCTCCCACCCCATTAGGAGTCCTCCATCAGTTCCGCTTTGGGTAAAGCAAGCTCTGTTGTGACAGTTTGGAAACGGTTCACCTTCCTGGCCTAGGAATGCAAACAATGGCCAAGGGCAAGCACGTTTTAACTGAACTTTAAAATCGTGCTTTCCTCACAGTAGGTGAATTTCACGCTCAACACATCCATGTAAACAGTCCCCAGAGCAGCCCTTCAAGGCCCCGGCCAGTCCCCACCTCCCCACAGACTCCTAACACCATGATTTAATGTGGCTTGCACATTTTTAAAGGCTTTTGATATTTATTAGCAAAAGATGCGAGAGCCACCCTGCTGGGCTAGCGCTCCCTTCTGGGGGAAACTGAGGCAGGGCGCACGCGACCCTCTCCACTGCGCCCAGTTAGCAGATGGCGGCGTCAGGGGTCGACCCGGGTCGGAAAACTCGCTGGCGCTGCGGCACTAGGGCGCCGGGCCGCTGACTCGCCGACCCCCGTCCCGCCCCCACCCCCGCCCCCGCCCCTGCCGGCCGCCTTAGCGCAACTCCCCGCCCCCCGACCAGCTTCGGCCTGGAGCACGACGGCGCGCCCGGCAGCGGCTGCGGCCCCAGCGGACACGTGATGGCTTCGGACGGCGCCGCGCCCCGCGCCGGCCTCGCCTGGTCCCCCTGCAGCCGCCGGCAGCTGCTGAGCCTGCTCAGGTAGCGGCCGCCCCGTGGGAGGGGCGCGCGAGCCTCCAGCCAGCCCGCTGGGCCGCCAGCGCCACCTCTCTCTACGTCCGTCCCCACTCCGCATTCAGCCCTCCTTCCTGTCCCACCCCTCCGTCCAACCCACCCCTCCGTCCAACCCCGCGCCCACCGCTCCGTCCGTGGAGGGGCGGGCGCGCGAGCCTCCAGCCAGCCCGCTGGGCCGCCCGCGCCACCCCTCCCTACGTCCGTCCCCACCTCTCCCTACGTCCGTCCCCACTCCGCATTCAGCCCTCCTTCCTGTCCTACCTCTCCATCCTGACCCACTCCTCCGTCCAACCCCGCGCCCACAGCTCCGTCCCATCCCGCTGCGCCCACTCCTGCGCCCACCCCTCCGTCCCAACCCCTGCACCCACCCCCCCGTCCCACCCACCTGCCCCACCCCCTGCACCTCCCCCCGTGCTGTCCCACTCTGCGGCCACCCTTCTGTCCAACCCCTGCGCCCACCGCTCCGTTCCACCCCCTCCCTGCGCCCACCCCTGCGTCCTCCCTCGCCCCCTTGCGCCCACACTTTCGTTCCAGCCAATCTGGGCACGCACCCCTCCGTCCATCCCCATCCCGCCCCTTGACTCCACATACACTCCCTGGTTCTCTCCCACTTGCCTACACCCACCCCTGCATCCTACCCTCCTCCATCCACCCCTCCATCTCAGCCCCCTGCACCCACCCCGTTCCTGGGCCCACCCTGTTCCTGCACCCACCCCCTCACTTCACCCCCTTACCCTTCGTCTGCCTCCACCCGCCCCTACCCCTCCGTCCACTCTCCACGCTCCATCAGTCCCACACCCCTATCTCCCCCACCCGCGTACATGTATCCCTGCGTCCCCTTCCCGCCGACCGCACCGCTCCCGGGCCTAACCTGCATCTGCTCCATCCCACTCAGACCCGTCCCTCCGTCGCCGCTCCCTCTGCTGGCCACCCACCTCTGCGCCGGCAGGAGCCTTAGTCTTGGTCCCAGCCAAGAGCCGGCTCCTGGTGGGGGGCGCGGGCCGAGAACTCCTGTTCCCACTCACAAAAGGCCACGCTTCCAAACGCTTCCATCCTCGTGCCCACTCCTCCGTCCCGCCTCCTCCCGGTGTACACCCCGGGACTGAGCCGGGCCTGAGCCGGGCCTTGTCGCAGCGCAGGACGGGCGCGCTGCGTGTGGGACCCGCCGCGGCCTCAACCCGGGTCCGCGGGGCACCCGCCGGATGCGCAGCCTGGCCTCTACTACAGCGCCAACGAGCAGTGCCGCGTGGCCTTCGGCCCCAAGGCTGTCGCCTGCACCTTCGCCAGGGAGCACCTGGTGAGTCTGCCGGCGGTGGCCTGGGATTGGCTGTGAGGTCCCTCCGCATCACCCAGCTCACGTCCCCCAAAACGTGCATGGTGAGAACCTGCTGGGTGCCGTGCTAGGCTGAGGTACTAAGCCAGGGCGGCTTAGTTTAATGCTGTCTGTGCCCTCTAGAAATTATTTAAAATGTTTGAACAAAAGCTCCAACATTTTTGTTTGACTGGGCCCCACAAATTATGTAGCTAGTCCTGGGAGGGCCCCTGTGCCCAAGGACTCCTGGCTGAGTGAGGACACCAATCTTAAACAGTTACCAAGGACTTCCCCATCTATTGTGGCTGGAGTCAGACTGGAGGGCTTCCTGGAGGAAGTGGCCTCTAAACTGAACCCACAGCAGAAGTGGGGCTGGTAGGGGGAGGGGAGATGAAGGAGAGCAGGCACCCCAAAAGACAGACTTCCTCGCAGGATTGCATAGGACATTCATGGGCTCCAGGCACTTTTGCCTTGATGGGCCCCTTCCTCCACAAAAAAATTGAGAATTATGTTTTAATATTCTTATACAATGTATAAAGTTTTATGTGTTACTATAAATACAAGTCTTTTTTTTTCCTATTTTTTTTTTTTTTTGAGACAGAGTCTCCCTCTCTGCTCACTGCAGGCTCCGCCTGCCAGATTCACACCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGA
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TTCTTATTTGCAAAATTGGGATTTAGTTTGGATCCCTGAAAAAAAGGAAAATTGTGATTATGCTGTGCATTGCTTTGTTACCTGCTATTTCTTTTTCTTTTCTTTTCTTTTTTTTTTTTGAGATGAAGTTTCGCTCTTGTTGCCCAGGCTGGAGGGCAATGACGTGATCTCAGCTCATTGCAACCTCCACCTCCTGGGTGCAAGTGATTCTCCCACCTCAGCCTCCCAAGTAGCTGGGATTACAGGCATGTGCCACCACGCCCAGCTAATTTTGTATTTTTAGTAGAGACAGGGTTTCTCCATGTTGGTCAGGCTGGTCTCGAACTCCCAACCTCAGGTGATCCACCTGCCTCGGTCTCCCACAGTGCTGGGATTACAGGCGTGAGCCACTGCATCCAGCCTTTCTTTTTTCTTCCTAGGGTAAGTGCAGGATTTACCTGTTCTTTATGTAATAATATATCCCAAACATTATCCCAGGTATCTTAGAGGTGTGCACCGTAATTTATTTAATCAGTCCCCTCTTCTTGGATGTCTAGGTTGTCTGAACACGTCTTCCTGTTGTGAATGTTATGCATTCTTGTGGGCAAACCTTCACTCTTACCTATAACCATTTACCTAGAGTGATGGGTTTCTTTTCATTTCTTTAGTTTTTTAAGTATGAAAATAATACCCAATTGTTGTAAAAATTCAAACAGTGCAGAGATTTCTAAAGTAAAAAGTGAATTTCCACATTCCTTGCCCACCAACCCCCACCCGACCCCTTTCAACCCCTCTGAGCCTGGGAGGGTTGAGGCAGGGTTCCTGGGTGTGGGACAAGGCAGGGCTCCTTCTCCCTCAGAGGGAGCATAGTTCCCTTCTGCTCCTGTGATGCAGAAGACGTGAGCCCCCAAACTGGGGCTTAGCCTGGGAGGGTTCTTGGCTTCACCGAGGAAAGAATTCAAGAGGGAGCAGGTGGTGTTAGACAGCAACTTTGATTGATGTGGCAGTGGGCAGAGTGTACAGCCCTGTGACTGTATACAGCACAGCATAGCCCCTTTTGAAGCCAGGCTACCCCATAGACACTGTGCCCAAAAGAGCAGCTCAAAGGCAGGGCTGCAGTCCTAGTTAATACCCACTTCTAATTATATGCAAATTAAGGGGCCAGATTATGCAGAAATTTCTAGAAAAAGGGCAGTAACTTCTAGGTTTTCGTCATGGAAAAGGGGCAGTAACTTCTGGGTTTTGCCATGGCAATGGCAAACTGGTATGGCACACTGGTGGGCGTGTCTTATGGAAAGGGGCTTCCCACCCCTCCCTGTTTTAGCTAGTCCTCTGGTCCAGTGTCCAAGCGGGGCCTCCAGAGTGGAGTCCACCTCCTACCTCACCGGTGCCTGGCCTCTCCCACCCCATTAGGAGTCCTCCATCAGTTCCGCTTTGGGTAAAGCAAGCTCTGTTGTGACAGTTTGGAAACGGTTCACCTTCCTGGCCTAGGAATGCAAACAATGGCCAAGGGCAAGCACGTTTTAACTGAACTTTAAAATCGTGCTTTCCTCACAGTAGGTGAATTTCACGCTCAACACATCCATGTAAACAGTCCCCAGAGCAGCCCTTCAAGGCCCCGGCCAGTCCCCACCTCCCCACAGACTCCTAACACCATGATTTAATGTGGCTTGCACATTTTTAAAGGCTTTTGATATTTATTAGCAAAAGATGCGAGAGCCACCCTGCTGGGCTAGCGCTCCCTTCTGGGGGAAACTGAGGCAGGGCGCACGCGACCCTCTCCACTGCGCCCAGTTAGCAGATGGCGGCGTCAGGGGTCGACCCGGGTCGGAAAACTCGCTGGCGCTGCGGCACTAGGGCGCCGGGCCGCTGACTCGCCGACCCCCGTCCCGCCCCCACCCCCGCCCCCGCCCCTGCCGGCCGCCTTAGCGCAACTCCCCGCCCCCCGACCAGCTTCGGCCTGGAGCACGACGGCGCGCCCGGCAGCGGCTGCGGCCCCAGCGGACACGTGATGGCTTCGGACGGCGCCGCGCCCCGCGCCGGCCTCGCCTGGTCCCCCTGCAGCCGCCCGCAGCTGCTGAGCCTGCTCAGGTAGCGGCCGCCCCGTGGGAGGGGCGCGCGAGCCTCCAGCCAGCCCGCTGGGCCGCCAGCGCCACCTCTCTCTACGTCCGTCCCCACTCCGCATTCAGCCCTCCTTCCTGTCCCACCCCTCCGTCCAACCCACCCCTCCGTCCAACCCCGCGCCCACCGCTCCGTCCGTGGAGGGGCGGGCGCGCGAGCCTCCAGCCAGCCCGCTGGGCCGCCCGCGCCACCCCTCCCTACGTCCGTCCCCACCTCTCCCTACGTCCGTCCCCACTCCGCATTCAGCCCTCCTTCCTGTCCTACCTCTCCATCCTGACCCACTCCTCCGTCCAACCCCGCGCCCACAGCTCCGTCCCATCCCGCTGCGCCCACTCCTGCGCCCACCCCTCCGTCCCAACCCCTGCACCCACCCCCCCGTCCCACCCACCTGCCCCACCCCCTGCACCTCCCCCCGTGCTGTCCCACTCTGCGGCCACCCTTCTGTCCAACCCCTGCGCCCACCGCTCCGTTCCACCCCCTCCCTGCGCCCACCCCTGCGTCCTCCCTCGCCCCCTTGCGCCCACACTTTCGTTCCAGCCAATCTGGGCACGCACCCCTCCGTCCATCCCCATCCCGCCCCTTGACTCCACATACACTCCCTGGTTCTCTCCCACTTGCCTACACCCACCCCTGCATCCTACCCTCCTCCATCCACCCCTCCATCTCAGCCCCCTGCACCCACCCCGTTCCTGGGCCCACCCTGTTCCTGCACCCACCCCCTCACTTCACCCCCTTACCCTTCGTCTGCCTCCACCCGCCCCTACCCCTCCGTCCACTCTCCACGCTCCATCAGTCCCACACCCCTATCTCCCCCACCCGCGTACATGTATCCCTGCGTCCCCTTCCCGCCGACCGCACCGCTCCCGGGCCTAACCTGCATCTGCTCCATCCCACTCAGACCCGTCCCTCCGTCGCCGCTCCCTCTGCTGGCCACCCACCTCTGCGCCGGCAGGAGCCTTAGTCTTGGTCCCAGCCAAGAGCCGGCTCCTGGTGGGGGGCGCGGGCCGAGAACTCCTGTTCCCACTCACAAAAGGCCACGCTTCCAAACGCTTCCATCCTCGTGCCCACTCCTCCGTCCCGCCTCCTCCCGGTGTACACCCCGGGACTGAGCCGGGCCTGAGCCGGGCCTTGTCGCAGCGCAGGACGGGCGCGCTGCGTGTGGGACCCGCCGCGGCCTCAACCCGGGTCCGCGGGGCACCCGCCGGATGCGCAGCCTGGCCTCTACTACAGCGCCAACGAGCAGTGCCGCGTGGCCTTCGGCCCCAAGGCTGTCGCCTGCACCTTCGCCAGGGAGCACCTGGTGAGTCTGCCGGCGGTGGCCTGGGATTGGCTGTGAGGTCCCTCCGCATCACCCAGCTCACGTCCCCCAAAACGTGCATGGTGAGAACCTGCTGGGTGCCGTGCTAGGCTGAGGTACTAAGCCAGGGCGGCTTAGTTTAATGCTGTCTGTGCCCTCTAGAAATTATTTAAAATGTTTGAACAAAAGCTCCAACATTTTTGTTTGACTGGGCCCCACAAATTATGTAGCTAGTCCTGGGAGGGCCCCTGTGCCCAAGGACTCCTGGCTGAGTGAGGACACCAATCTTAAACAGTTACCAAGGACTTCCCCATCTATTGTGGCTGGAGTCAGACTGGAGGGCTTCCTGGAGGAAGTGGCCTCTAAACTGAACCCACAGCAGAAGTGGGGCTGGTAGGGGGAGGGGAGATGAAGGAGAGCAGGCACCCCAAAAGACAGACTTCCTCGCAGGATTGCATAGGACATTCATGGGCTCCAGGCACTTTTGCCTTGATGGGCCCCTTCCTCCACAAAAAAATTGAGAATTATGTTTTAATATTCTTATACAATGTATAAAGTTTTATGTGTTACTATAAATACAAGTCTTTTTTTTTCCTATTTTTTTTTTTTTTTGAGACAGAGTCTCCCTCTCTGCTCACTGCAGGCTCCGCCTGCCAGATTCACACCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGA
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Task1_train_13436
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A mutation in ADAMTS13 (ADAM metallopeptidase with thrombospondin type 1 motif 13), located on Chromosome 9, is being studied. Determine whether it’s pathogenic or benign, and specify the linked disease.
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Pathogenic; not provided
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CCCTTCCTCCACAAAAAAATTGAGAATTATGTTTTAATATTCTTATACAATGTATAAAGTTTTATGTGTTACTATAAATACAAGTCTTTTTTTTTCCTATTTTTTTTTTTTTTTGAGACAGAGTCTCCCTCTCTGCTCACTGCAGGCTCCGCCTGCCAGATTCACACCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCGCCCGCCACCACGCCTGGCTAATTTTTTGTATTTTTAGTAGAGACGGGGTTTCACTGTGTTAGCCAGGATGGTCTCGATCTCCTGACCTCGTGATCCGCCCGCCCTGGCCTCACAAAGTGCTGGGATTACAGGCATGAGCCACAGCGCCCCGCCAAGTCTTTTTTTTTAAATTCTTTTGAGACAGGGCCTCGTTCTGTTGCCCAGGGTGGAGTGCAGTAGCACAATCATAGCTCACTGTTGCCTCAACTTCTTGGGCACAAACGATCCTCCCACCTCGGCCTTGGAGTAGCTGGGACTACAGGCACATGCCACAATGCCCAGCTAATTTTTAAATTTTTTGTAGAGATGGGGTCTCCCTTTGTTACCCAGGCTTGTCTAGGACTCCTGGCTTCAAGCCATCCTCCCACCTTGGCGTCCCAAAGCACTGGGATTACAGACATGAGCCACCACCCACGCCTGATCAGCAAATCTATTAATATTATATATTACAACATTAATTTTGACCTGGAAGTTCATTTTTTCATTTTTTTTTTTTTTTGAGACAGAGTCTCACTCTGTCACCCAGGCTGGAGTGCAGTGGCACAATCTTGGCTTACTGCAACCTCCGCCTCCCAGGTTCAAGTGATTCCCGGGCCTACGCCTCCCGAGTAGCTGGGACTACAGGCATGTGCCACCATGCCCAGCTAAGTTTTGTATTTTTTAGTAGAGACAGGGTTTCATCATGTTGGCCGGGCTGGTCTCGAATTCTGACCTCAGGTGATCCGCCCGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGATAAGCCACCACACCCAGCCTAGTTCATTTTTTTCTTCTGATTTTATTTTATTTATTTATTTATTTTGAGACGGAGTCTCGCTCTGTCACCCAGGCTGGAATGCAGTGGCTCAATCTTGGCTCACTGCAAGCTCTGCCTTCAGGGTTCAAGCCATTCTCCTGCATCAGCCTCCCGAATAGCTGGGACTACAGGTGCCTGCCACCACACCCGGCTAATTTTTTGTATTTTTAGTAGAGATGGGGTTTCACTGTGTTAGCCAGGATGGTCTCGCTCTCCTGACCTCGTGATTTGCCCGCCTCGGCCTTCCAAATTGCTGGGATTACAGGCGTGAGCCACAGTGCCCGGCCTTTTTCCTTCTGATTTTAAAAGAAATTAGGCCAGGTGTGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAAGCCAAGGCAGGCGGATCACCTGAGGTCGGGAGTTTGAGACCAGCCTGACCAACATGGAGAAATGCCATCTGTGCTAAAAATACAAAAAATTAGCCGGGCGTGGTGGCGCATGCCTGTAATCCCAGCTACTCGGAAGGCTGAGGTAGGAGAATTGCTTGAACCCAGGAGGCAGAGGTTGAGGTGAGCCAAGATCGCGCCATTGCCCTCCAGCCTGGGCAACAAGAGCGAAACTGTCTCAAAAAAAAACAAGAAAGAAAAATAAATTAAAACATTTGCCTCTTGAGCTTCAAGTCAGTGACAAGTTAAGAAGGAAAAAAAGAAAAAAGACACAAAAAACACATTTCCATGGGCCCCCAAAAGTGTGACAGGACCTGGTCATGGTCCCGGTTCCCCATCGATGGGTCAGTCATGCCTTGTCCTCTGAGGGCACCAGTGCCCACGGTGCAGAGTGTTGGCTGTGTCAGTGTGTCCTGCAGTCTGGGAGGGACAGTTAAGGTTGGACACTGGCCTGGAAGGCCCTGGTGGCCCCTGAGCTCGCCACCCACCTGTCCACCCTCCTAGGATATGTGCCAGGCCCTCTCCTGCCACACAGACCCGCTGGACCAAAGCAGCTGCAGCCGCCTCCTCGTTCCTCTCCTGGATGGGACAGAATGTGGCGTGGAGAAGGTCAGAGCCAAGAGTGAATGAGTGGGCTCCTGTGAGCACGTGCACGTGGGTGCCTCCAGCCAGGCCGCCCTATTCCTAGGTCAGGAGGCAGGACCAGTATGGGGCAGAGAGTCTTGGAGTTGGCCTTGGGGACTGTCCTTTGGGTTGGTGGTCTGACCTCTTTCCTTTAGCATTTGCTCCCATGCAGAATGGGAATGTGGGCTGCCTGTTGTATGGGGGGTGCCCATGGGTGTGGGGTTCCTTTGGGTGGGGTCCCTGTGTGAAGGTCCTTGTGGATATGGGGTGTCTCGGGGGGGATCCCTGTGTAAGGGGTCCCTGTGAGTGTAGAGTCCCTGTGGGTGGGGTCCTTATGTGTGTGTTGGAGGATCCCTGTGTGTTGAGGGGTCCCTGGGGGGTTCTGTGTGTATGTTGGGGGGTCTCTGGGTGTTGGAGGATCCCTGTGGGTCTGGGGGATCCATGTGGCTGGGGTACCTGTGTGTTGGGGGGTCTCTGTGTGTGTTGGAGATCCCTGTGTGTTGGGGGATCCCTATGGGTGAGTTCCTTGTGTGTGTTTGGGGGTCGCTGTGGGTGGGGTCCCTGTGTGTGTTGGGGATCCCTGAGGATGTTGGGGGACTCTCTGTGTGTGTTGGGAGTCCTGTGGTGGGGTCACTGTGGGATGGGAGATGAAGCCATCCTTGCCTTGCAGTGGTGCTCCAAGGGTCGCTGCCGCTCCCTGGTGGAGCTGACCCCCATAGCAGCAGTGCATGGGCGCTGGTCTAGCTGGGGTCCCCGAAGTCCTTGCTCCCGCTCCTGCGGAGGAGGTGTGGTCACCAGGAGGCGGCAGTGCAACAACCCCAGGTACCGCAGGGAGGGTGCTTTTCTGTCAGGGAGTGTGGCCATACCATAGTCCCTAGTTGAAGGCAGTGGTCACCCTGCTCTCTCACCCTCCTGTCTGCTGGGCATTTTCAGACCTGCCTTTGGGGGGCGTGCATGTGTTGGTGCTGACCTCCAGGCCGAGATGTGCAACACTCAGGTAGGCCTGCTTCCTGGGGTAGGAGGGGGCAGCTGGTGGCACCGGGCCCTGGGGGAGCCAAAGTGACCATCTGTGGTTCACACCAGGACACATTTGAGAAGGACATTGGGGCCAGGTGAGGTGGCTTATGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGCAGGTGGATCACCTGAGGTCAGGGGTTCAAGACCAGCCTGGCCAACATGGTGAAATCTCGTCTCTACAGAAAATACAAAAATTAGCCGGGCGTGGTGGTGGGCGCCTGTAGTCCCAGCTACTCGGGAAGCTGAGGCAGGAGAATCACTTGAACCCAGGAGGTAGAGCTTGCAGTGAGCCGAGATTGGGCCATTGCACTCCAGCCTGGGCGACAGAGTGAGACTCTGTCTCAAAAAAAAAATAAAAATTAAAAAAGAGAGAGAAGGACATTGGGACCCCAGTTCATAAACCAGGCCAGTCCTGCTGATGCCCACAGAGCCCCTGAAGCGTCCCGCCTCCCTCCCTGAGTGCCACTTTGCCCTCCAGAGCGCATCTCTGCAGGGAGAACCTCCCCACTAGGAATACAGTGCGCTGCTGCATGCCTGCAAAGGAATTTTTTAAATATTATTTTTATTTTTTTAGACAGAGTCTCTCCCTGTCACCCAGACTGGAGTGCAGTGGTGCTATCTCAGCTCACTGCAACCTCTGCCTCCCAGGTTCAAGCGATTCTCCTGCCTCAGTCTCCTGAGTAGCTGGGACTACAGGTGCCCGCCACCACGCCCGGCTAATTTTTTGTATTTTTAGTAGAGGAGGGGTTTCACCGTGTTAGCCAGGATGGCCTTGATCTCCTGACCTCGTGATCCGCCTGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGTGTCACTGCGCCTGGCCGAAGGAGTCTTTTATTTATAAATTGAGGTGACATTCATGTAGCATGAAATCAAGCATTTTAAAGTGGCAACTCAGTGGCCTTTAGTACACTC
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CCCTTCCTCCACAAAAAAATTGAGAATTATGTTTTAATATTCTTATACAATGTATAAAGTTTTATGTGTTACTATAAATACAAGTCTTTTTTTTTCCTATTTTTTTTTTTTTTTGAGACAGAGTCTCCCTCTCTGCTCACTGCAGGCTCCGCCTGCCAGATTCACACCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCGCCCGCCACCACGCCTGGCTAATTTTTTGTATTTTTAGTAGAGACGGGGTTTCACTGTGTTAGCCAGGATGGTCTCGATCTCCTGACCTCGTGATCCGCCCGCCCTGGCCTCACAAAGTGCTGGGATTACAGGCATGAGCCACAGCGCCCCGCCAAGTCTTTTTTTTTAAATTCTTTTGAGACAGGGCCTCGTTCTGTTGCCCAGGGTGGAGTGCAGTAGCACAATCATAGCTCACTGTTGCCTCAACTTCTTGGGCACAAACGATCCTCCCACCTCGGCCTTGGAGTAGCTGGGACTACAGGCACATGCCACAATGCCCAGCTAATTTTTAAATTTTTTGTAGAGATGGGGTCTCCCTTTGTTACCCAGGCTTGTCTAGGACTCCTGGCTTCAAGCCATCCTCCCACCTTGGCGTCCCAAAGCACTGGGATTACAGACATGAGCCACCACCCACGCCTGATCAGCAAATCTATTAATATTATATATTACAACATTAATTTTGACCTGGAAGTTCATTTTTTCATTTTTTTTTTTTTTTGAGACAGAGTCTCACTCTGTCACCCAGGCTGGAGTGCAGTGGCACAATCTTGGCTTACTGCAACCTCCGCCTCCCAGGTTCAAGTGATTCCCGGGCCTACGCCTCCCGAGTAGCTGGGACTACAGGCATGTGCCACCATGCCCAGCTAAGTTTTGTATTTTTTAGTAGAGACAGGGTTTCATCATGTTGGCCGGGCTGGTCTCGAATTCTGACCTCAGGTGATCCGCCCGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGATAAGCCACCACACCCAGCCTAGTTCATTTTTTTCTTCTGATTTTATTTTATTTATTTATTTATTTTGAGACGGAGTCTCGCTCTGTCACCCAGGCTGGAATGCAGTGGCTCAATCTTGGCTCACTGCAAGCTCTGCCTTCAGGGTTCAAGCCATTCTCCTGCATCAGCCTCCCGAATAGCTGGGACTACAGGTGCCTGCCACCACACCCGGCTAATTTTTTGTATTTTTAGTAGAGATGGGGTTTCACTGTGTTAGCCAGGATGGTCTCGCTCTCCTGACCTCGTGATTTGCCCGCCTCGGCCTTCCAAATTGCTGGGATTACAGGCGTGAGCCACAGTGCCCGGCCTTTTTCCTTCTGATTTTAAAAGAAATTAGGCCAGGTGTGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAAGCCAAGGCAGGCGGATCACCTGAGGTCGGGAGTTTGAGACCAGCCTGACCAACATGGAGAAATGCCATCTGTGCTAAAAATACAAAAAATTAGCCGGGCGTGGTGGCGCATGCCTGTAATCCCAGCTACTCGGAAGGCTGAGGTAGGAGAATTGCTTGAACCCAGGAGGCAGAGGTTGAGGTGAGCCAAGATCGCGCCATTGCCCTCCAGCCTGGGCAACAAGAGCGAAACTGTCTCAAAAAAAAACAAGAAAGAAAAATAAATTAAAACATTTGCCTCTTGAGCTTCAAGTCAGTGACAAGTTAAGAAGGAAAAAAAGAAAAAAGACACAAAAAACACATTTCCATGGGCCCCCAAAAGTGTGACAGGACCTGGTCATGGTCCCGGTTCCCCATCGATGGGTCAGTCATGCCTTGTCCTCTGAGGGCACCAGTGCCCACGGTGCAGAGTGTTGGCTGTGTCAGTGTGTCCTGCAGTCTGGGAGGGACAGTTAAGGTTGGACACTGGCCTGGAAGGCCCTGGTGGCCCCTGAGCTCGCCACCCACCTGTCCACCCTCCTAGGATATGTGCCAGGCCCTCTCCTGCCACACAGACCCGCTGGACCAAAGCAGCTGCAGCTGCCTCCTCGTTCCTCTCCTGGATGGGACAGAATGTGGCGTGGAGAAGGTCAGAGCCAAGAGTGAATGAGTGGGCTCCTGTGAGCACGTGCACGTGGGTGCCTCCAGCCAGGCCGCCCTATTCCTAGGTCAGGAGGCAGGACCAGTATGGGGCAGAGAGTCTTGGAGTTGGCCTTGGGGACTGTCCTTTGGGTTGGTGGTCTGACCTCTTTCCTTTAGCATTTGCTCCCATGCAGAATGGGAATGTGGGCTGCCTGTTGTATGGGGGGTGCCCATGGGTGTGGGGTTCCTTTGGGTGGGGTCCCTGTGTGAAGGTCCTTGTGGATATGGGGTGTCTCGGGGGGGATCCCTGTGTAAGGGGTCCCTGTGAGTGTAGAGTCCCTGTGGGTGGGGTCCTTATGTGTGTGTTGGAGGATCCCTGTGTGTTGAGGGGTCCCTGGGGGGTTCTGTGTGTATGTTGGGGGGTCTCTGGGTGTTGGAGGATCCCTGTGGGTCTGGGGGATCCATGTGGCTGGGGTACCTGTGTGTTGGGGGGTCTCTGTGTGTGTTGGAGATCCCTGTGTGTTGGGGGATCCCTATGGGTGAGTTCCTTGTGTGTGTTTGGGGGTCGCTGTGGGTGGGGTCCCTGTGTGTGTTGGGGATCCCTGAGGATGTTGGGGGACTCTCTGTGTGTGTTGGGAGTCCTGTGGTGGGGTCACTGTGGGATGGGAGATGAAGCCATCCTTGCCTTGCAGTGGTGCTCCAAGGGTCGCTGCCGCTCCCTGGTGGAGCTGACCCCCATAGCAGCAGTGCATGGGCGCTGGTCTAGCTGGGGTCCCCGAAGTCCTTGCTCCCGCTCCTGCGGAGGAGGTGTGGTCACCAGGAGGCGGCAGTGCAACAACCCCAGGTACCGCAGGGAGGGTGCTTTTCTGTCAGGGAGTGTGGCCATACCATAGTCCCTAGTTGAAGGCAGTGGTCACCCTGCTCTCTCACCCTCCTGTCTGCTGGGCATTTTCAGACCTGCCTTTGGGGGGCGTGCATGTGTTGGTGCTGACCTCCAGGCCGAGATGTGCAACACTCAGGTAGGCCTGCTTCCTGGGGTAGGAGGGGGCAGCTGGTGGCACCGGGCCCTGGGGGAGCCAAAGTGACCATCTGTGGTTCACACCAGGACACATTTGAGAAGGACATTGGGGCCAGGTGAGGTGGCTTATGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGCAGGTGGATCACCTGAGGTCAGGGGTTCAAGACCAGCCTGGCCAACATGGTGAAATCTCGTCTCTACAGAAAATACAAAAATTAGCCGGGCGTGGTGGTGGGCGCCTGTAGTCCCAGCTACTCGGGAAGCTGAGGCAGGAGAATCACTTGAACCCAGGAGGTAGAGCTTGCAGTGAGCCGAGATTGGGCCATTGCACTCCAGCCTGGGCGACAGAGTGAGACTCTGTCTCAAAAAAAAAATAAAAATTAAAAAAGAGAGAGAAGGACATTGGGACCCCAGTTCATAAACCAGGCCAGTCCTGCTGATGCCCACAGAGCCCCTGAAGCGTCCCGCCTCCCTCCCTGAGTGCCACTTTGCCCTCCAGAGCGCATCTCTGCAGGGAGAACCTCCCCACTAGGAATACAGTGCGCTGCTGCATGCCTGCAAAGGAATTTTTTAAATATTATTTTTATTTTTTTAGACAGAGTCTCTCCCTGTCACCCAGACTGGAGTGCAGTGGTGCTATCTCAGCTCACTGCAACCTCTGCCTCCCAGGTTCAAGCGATTCTCCTGCCTCAGTCTCCTGAGTAGCTGGGACTACAGGTGCCCGCCACCACGCCCGGCTAATTTTTTGTATTTTTAGTAGAGGAGGGGTTTCACCGTGTTAGCCAGGATGGCCTTGATCTCCTGACCTCGTGATCCGCCTGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGTGTCACTGCGCCTGGCCGAAGGAGTCTTTTATTTATAAATTGAGGTGACATTCATGTAGCATGAAATCAAGCATTTTAAAGTGGCAACTCAGTGGCCTTTAGTACACTC
|
Task1_train_13437
|
This mutation occurs in ADAMTS13 (ADAM metallopeptidase with thrombospondin type 1 motif 13) on Chromosome 9. Does this change lead to a known medical condition, or is it benign?
|
Pathogenic; Upshaw-Schulman syndrome
|
GATTCCCGGGCCTACGCCTCCCGAGTAGCTGGGACTACAGGCATGTGCCACCATGCCCAGCTAAGTTTTGTATTTTTTAGTAGAGACAGGGTTTCATCATGTTGGCCGGGCTGGTCTCGAATTCTGACCTCAGGTGATCCGCCCGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGATAAGCCACCACACCCAGCCTAGTTCATTTTTTTCTTCTGATTTTATTTTATTTATTTATTTATTTTGAGACGGAGTCTCGCTCTGTCACCCAGGCTGGAATGCAGTGGCTCAATCTTGGCTCACTGCAAGCTCTGCCTTCAGGGTTCAAGCCATTCTCCTGCATCAGCCTCCCGAATAGCTGGGACTACAGGTGCCTGCCACCACACCCGGCTAATTTTTTGTATTTTTAGTAGAGATGGGGTTTCACTGTGTTAGCCAGGATGGTCTCGCTCTCCTGACCTCGTGATTTGCCCGCCTCGGCCTTCCAAATTGCTGGGATTACAGGCGTGAGCCACAGTGCCCGGCCTTTTTCCTTCTGATTTTAAAAGAAATTAGGCCAGGTGTGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAAGCCAAGGCAGGCGGATCACCTGAGGTCGGGAGTTTGAGACCAGCCTGACCAACATGGAGAAATGCCATCTGTGCTAAAAATACAAAAAATTAGCCGGGCGTGGTGGCGCATGCCTGTAATCCCAGCTACTCGGAAGGCTGAGGTAGGAGAATTGCTTGAACCCAGGAGGCAGAGGTTGAGGTGAGCCAAGATCGCGCCATTGCCCTCCAGCCTGGGCAACAAGAGCGAAACTGTCTCAAAAAAAAACAAGAAAGAAAAATAAATTAAAACATTTGCCTCTTGAGCTTCAAGTCAGTGACAAGTTAAGAAGGAAAAAAAGAAAAAAGACACAAAAAACACATTTCCATGGGCCCCCAAAAGTGTGACAGGACCTGGTCATGGTCCCGGTTCCCCATCGATGGGTCAGTCATGCCTTGTCCTCTGAGGGCACCAGTGCCCACGGTGCAGAGTGTTGGCTGTGTCAGTGTGTCCTGCAGTCTGGGAGGGACAGTTAAGGTTGGACACTGGCCTGGAAGGCCCTGGTGGCCCCTGAGCTCGCCACCCACCTGTCCACCCTCCTAGGATATGTGCCAGGCCCTCTCCTGCCACACAGACCCGCTGGACCAAAGCAGCTGCAGCCGCCTCCTCGTTCCTCTCCTGGATGGGACAGAATGTGGCGTGGAGAAGGTCAGAGCCAAGAGTGAATGAGTGGGCTCCTGTGAGCACGTGCACGTGGGTGCCTCCAGCCAGGCCGCCCTATTCCTAGGTCAGGAGGCAGGACCAGTATGGGGCAGAGAGTCTTGGAGTTGGCCTTGGGGACTGTCCTTTGGGTTGGTGGTCTGACCTCTTTCCTTTAGCATTTGCTCCCATGCAGAATGGGAATGTGGGCTGCCTGTTGTATGGGGGGTGCCCATGGGTGTGGGGTTCCTTTGGGTGGGGTCCCTGTGTGAAGGTCCTTGTGGATATGGGGTGTCTCGGGGGGGATCCCTGTGTAAGGGGTCCCTGTGAGTGTAGAGTCCCTGTGGGTGGGGTCCTTATGTGTGTGTTGGAGGATCCCTGTGTGTTGAGGGGTCCCTGGGGGGTTCTGTGTGTATGTTGGGGGGTCTCTGGGTGTTGGAGGATCCCTGTGGGTCTGGGGGATCCATGTGGCTGGGGTACCTGTGTGTTGGGGGGTCTCTGTGTGTGTTGGAGATCCCTGTGTGTTGGGGGATCCCTATGGGTGAGTTCCTTGTGTGTGTTTGGGGGTCGCTGTGGGTGGGGTCCCTGTGTGTGTTGGGGATCCCTGAGGATGTTGGGGGACTCTCTGTGTGTGTTGGGAGTCCTGTGGTGGGGTCACTGTGGGATGGGAGATGAAGCCATCCTTGCCTTGCAGTGGTGCTCCAAGGGTCGCTGCCGCTCCCTGGTGGAGCTGACCCCCATAGCAGCAGTGCATGGGCGCTGGTCTAGCTGGGGTCCCCGAAGTCCTTGCTCCCGCTCCTGCGGAGGAGGTGTGGTCACCAGGAGGCGGCAGTGCAACAACCCCAGGTACCGCAGGGAGGGTGCTTTTCTGTCAGGGAGTGTGGCCATACCATAGTCCCTAGTTGAAGGCAGTGGTCACCCTGCTCTCTCACCCTCCTGTCTGCTGGGCATTTTCAGACCTGCCTTTGGGGGGCGTGCATGTGTTGGTGCTGACCTCCAGGCCGAGATGTGCAACACTCAGGTAGGCCTGCTTCCTGGGGTAGGAGGGGGCAGCTGGTGGCACCGGGCCCTGGGGGAGCCAAAGTGACCATCTGTGGTTCACACCAGGACACATTTGAGAAGGACATTGGGGCCAGGTGAGGTGGCTTATGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGCAGGTGGATCACCTGAGGTCAGGGGTTCAAGACCAGCCTGGCCAACATGGTGAAATCTCGTCTCTACAGAAAATACAAAAATTAGCCGGGCGTGGTGGTGGGCGCCTGTAGTCCCAGCTACTCGGGAAGCTGAGGCAGGAGAATCACTTGAACCCAGGAGGTAGAGCTTGCAGTGAGCCGAGATTGGGCCATTGCACTCCAGCCTGGGCGACAGAGTGAGACTCTGTCTCAAAAAAAAAATAAAAATTAAAAAAGAGAGAGAAGGACATTGGGACCCCAGTTCATAAACCAGGCCAGTCCTGCTGATGCCCACAGAGCCCCTGAAGCGTCCCGCCTCCCTCCCTGAGTGCCACTTTGCCCTCCAGAGCGCATCTCTGCAGGGAGAACCTCCCCACTAGGAATACAGTGCGCTGCTGCATGCCTGCAAAGGAATTTTTTAAATATTATTTTTATTTTTTTAGACAGAGTCTCTCCCTGTCACCCAGACTGGAGTGCAGTGGTGCTATCTCAGCTCACTGCAACCTCTGCCTCCCAGGTTCAAGCGATTCTCCTGCCTCAGTCTCCTGAGTAGCTGGGACTACAGGTGCCCGCCACCACGCCCGGCTAATTTTTTGTATTTTTAGTAGAGGAGGGGTTTCACCGTGTTAGCCAGGATGGCCTTGATCTCCTGACCTCGTGATCCGCCTGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGTGTCACTGCGCCTGGCCGAAGGAGTCTTTTATTTATAAATTGAGGTGACATTCATGTAGCATGAAATCAAGCATTTTAAAGTGGCAACTCAGTGGCCTTTAGTACACTCACAAGGTTGGGCAAGTACTGCCTCTGTCTAGTTTCAGAACGTTTCCAGTACTCTGGAGTACTCTGGAGTGAACCCCATATGGTAGGCTGTCACTCCCCATTTCTCCTCCGCCACTCAGCGGCCATTGGTTTCCCTTCTGTCTCTGTGGATTGACCTGTTCTAGACATGCCACGTACCTGAGGCCAGACAACAGGTGTGCTTCCTGCCTGCCTTCCTCCCCCAGCGGCACGTCCCCAAGGCTCACCTGTGTTGTAGCCTGTGTCAGCGCCTCATTCCTCTTTCTGGCTGAATCATATTCCACTGCAGGGATAGACCACATTTTCATCCAGTCGTCTGCTGATGGACATCTGAGGTGTTTTCACCTTTTGGCTCCTGTGAACAGAGCCGCTGCGAATGTGCTTGTACATGTTTGAATCCCTGTTTTCAATTCTTTTGGCAGTATGCTGAAGAGCGGAGTTACTGGATCGTATGGGAATTGTATGTTTGACTTTTTTTTTTCTTTTTTTTTTTTTTGAGACAGAGTCTTGCTCTGTCGCCAGGCTGGAGTGCAGTGGTGCAATCTCAGCTCCCTGCAACCTTCGCCTCCTGGGTTCAAGCGATTCCCCTGCCTCACCTTCCGGAGTAGCTGGGATTACAGGCACGCGCCACCATGCCTGGCTAATTTTTTGTATTTTTAGTAGAGATGGAGTTTCCACCACGTCAGCCAGGATGGTCTGGATCTCCTGACCTCAGGTGATCTGCCCGCCTTGGCCTCCCAAACTGTTGGGATTACAGGCATGAGCCACCGCTCCCGGCCTATGTTTGACTTTTTTTTTTTCTTATTTTTTTCTTTC
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GATTCCCGGGCCTACGCCTCCCGAGTAGCTGGGACTACAGGCATGTGCCACCATGCCCAGCTAAGTTTTGTATTTTTTAGTAGAGACAGGGTTTCATCATGTTGGCCGGGCTGGTCTCGAATTCTGACCTCAGGTGATCCGCCCGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGATAAGCCACCACACCCAGCCTAGTTCATTTTTTTCTTCTGATTTTATTTTATTTATTTATTTATTTTGAGACGGAGTCTCGCTCTGTCACCCAGGCTGGAATGCAGTGGCTCAATCTTGGCTCACTGCAAGCTCTGCCTTCAGGGTTCAAGCCATTCTCCTGCATCAGCCTCCCGAATAGCTGGGACTACAGGTGCCTGCCACCACACCCGGCTAATTTTTTGTATTTTTAGTAGAGATGGGGTTTCACTGTGTTAGCCAGGATGGTCTCGCTCTCCTGACCTCGTGATTTGCCCGCCTCGGCCTTCCAAATTGCTGGGATTACAGGCGTGAGCCACAGTGCCCGGCCTTTTTCCTTCTGATTTTAAAAGAAATTAGGCCAGGTGTGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAAGCCAAGGCAGGCGGATCACCTGAGGTCGGGAGTTTGAGACCAGCCTGACCAACATGGAGAAATGCCATCTGTGCTAAAAATACAAAAAATTAGCCGGGCGTGGTGGCGCATGCCTGTAATCCCAGCTACTCGGAAGGCTGAGGTAGGAGAATTGCTTGAACCCAGGAGGCAGAGGTTGAGGTGAGCCAAGATCGCGCCATTGCCCTCCAGCCTGGGCAACAAGAGCGAAACTGTCTCAAAAAAAAACAAGAAAGAAAAATAAATTAAAACATTTGCCTCTTGAGCTTCAAGTCAGTGACAAGTTAAGAAGGAAAAAAAGAAAAAAGACACAAAAAACACATTTCCATGGGCCCCCAAAAGTGTGACAGGACCTGGTCATGGTCCCGGTTCCCCATCGATGGGTCAGTCATGCCTTGTCCTCTGAGGGCACCAGTGCCCACGGTGCAGAGTGTTGGCTGTGTCAGTGTGTCCTGCAGTCTGGGAGGGACAGTTAAGGTTGGACACTGGCCTGGAAGGCCCTGGTGGCCCCTGAGCTCGCCACCCACCTGTCCACCCTCCTAGGATATGTGCCAGGCCCTCTCCTGCCACACAGACCCGCTGGACCAAAGCAGCTGCAGCCGCCTCCTCGTTCCTCTCCTGGATGGGACAGAATGTGGCGTGGAGAAGGTCAGAGCCAAGAGTGAATGAGTGGGCTCCTGTGAGCACGTGCACGTGGGTGCCTCCAGCCAGGCCGCCCTATTCCTAGGTCAGGAGGCAGGACCAGTATGGGGCAGAGAGTCTTGGAGTTGGCCTTGGGGACTGTCCTTTGGGTTGGTGGTCTGACCTCTTTCCTTTAGCATTTGCTCCCATGCAGAATGGGAATGTGGGCTGCCTGTTGTATGGGGGGTGCCCATGGGTGTGGGGTTCCTTTGGGTGGGGTCCCTGTGTGAAGGTCCTTGTGGATATGGGGTGTCTCGGGGGGGATCCCTGTGTAAGGGGTCCCTGTGAGTGTAGAGTCCCTGTGGGTGGGGTCCTTATGTGTGTGTTGGAGGATCCCTGTGTGTTGAGGGGTCCCTGGGGGGTTCTGTGTGTATGTTGGGGGGTCTCTGGGTGTTGGAGGATCCCTGTGGGTCTGGGGGATCCATGTGGCTGGGGTACCTGTGTGTTGGGGGGTCTCTGTGTGTGTTGGAGATCCCTGTGTGTTGGGGGATCCCTATGGGTGAGTTCCTTGTGTGTGTTTGGGGGTCGCTGTGGGTGGGGTCCCTGTGTGTGTTGGGGATCCCTGAGGATGTTGGGGGACTCTCTGTGTGTGTTGGGAGTCCTGTGGTGGGGTCACTGTGGGATGGGAGATGAAGCCATCCTTGCCTTGCAGTGGTGCTCCAAGGGTCGCTGCCGCTCCCTGGTGGAGCTGACCCCCATAGCAGCAGTGCATGGGCGCTGGTCTAGCTGGGGTCCCCGAAGTCCTTGCTCCCACTCCTGCGGAGGAGGTGTGGTCACCAGGAGGCGGCAGTGCAACAACCCCAGGTACCGCAGGGAGGGTGCTTTTCTGTCAGGGAGTGTGGCCATACCATAGTCCCTAGTTGAAGGCAGTGGTCACCCTGCTCTCTCACCCTCCTGTCTGCTGGGCATTTTCAGACCTGCCTTTGGGGGGCGTGCATGTGTTGGTGCTGACCTCCAGGCCGAGATGTGCAACACTCAGGTAGGCCTGCTTCCTGGGGTAGGAGGGGGCAGCTGGTGGCACCGGGCCCTGGGGGAGCCAAAGTGACCATCTGTGGTTCACACCAGGACACATTTGAGAAGGACATTGGGGCCAGGTGAGGTGGCTTATGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGCAGGTGGATCACCTGAGGTCAGGGGTTCAAGACCAGCCTGGCCAACATGGTGAAATCTCGTCTCTACAGAAAATACAAAAATTAGCCGGGCGTGGTGGTGGGCGCCTGTAGTCCCAGCTACTCGGGAAGCTGAGGCAGGAGAATCACTTGAACCCAGGAGGTAGAGCTTGCAGTGAGCCGAGATTGGGCCATTGCACTCCAGCCTGGGCGACAGAGTGAGACTCTGTCTCAAAAAAAAAATAAAAATTAAAAAAGAGAGAGAAGGACATTGGGACCCCAGTTCATAAACCAGGCCAGTCCTGCTGATGCCCACAGAGCCCCTGAAGCGTCCCGCCTCCCTCCCTGAGTGCCACTTTGCCCTCCAGAGCGCATCTCTGCAGGGAGAACCTCCCCACTAGGAATACAGTGCGCTGCTGCATGCCTGCAAAGGAATTTTTTAAATATTATTTTTATTTTTTTAGACAGAGTCTCTCCCTGTCACCCAGACTGGAGTGCAGTGGTGCTATCTCAGCTCACTGCAACCTCTGCCTCCCAGGTTCAAGCGATTCTCCTGCCTCAGTCTCCTGAGTAGCTGGGACTACAGGTGCCCGCCACCACGCCCGGCTAATTTTTTGTATTTTTAGTAGAGGAGGGGTTTCACCGTGTTAGCCAGGATGGCCTTGATCTCCTGACCTCGTGATCCGCCTGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGTGTCACTGCGCCTGGCCGAAGGAGTCTTTTATTTATAAATTGAGGTGACATTCATGTAGCATGAAATCAAGCATTTTAAAGTGGCAACTCAGTGGCCTTTAGTACACTCACAAGGTTGGGCAAGTACTGCCTCTGTCTAGTTTCAGAACGTTTCCAGTACTCTGGAGTACTCTGGAGTGAACCCCATATGGTAGGCTGTCACTCCCCATTTCTCCTCCGCCACTCAGCGGCCATTGGTTTCCCTTCTGTCTCTGTGGATTGACCTGTTCTAGACATGCCACGTACCTGAGGCCAGACAACAGGTGTGCTTCCTGCCTGCCTTCCTCCCCCAGCGGCACGTCCCCAAGGCTCACCTGTGTTGTAGCCTGTGTCAGCGCCTCATTCCTCTTTCTGGCTGAATCATATTCCACTGCAGGGATAGACCACATTTTCATCCAGTCGTCTGCTGATGGACATCTGAGGTGTTTTCACCTTTTGGCTCCTGTGAACAGAGCCGCTGCGAATGTGCTTGTACATGTTTGAATCCCTGTTTTCAATTCTTTTGGCAGTATGCTGAAGAGCGGAGTTACTGGATCGTATGGGAATTGTATGTTTGACTTTTTTTTTTCTTTTTTTTTTTTTTGAGACAGAGTCTTGCTCTGTCGCCAGGCTGGAGTGCAGTGGTGCAATCTCAGCTCCCTGCAACCTTCGCCTCCTGGGTTCAAGCGATTCCCCTGCCTCACCTTCCGGAGTAGCTGGGATTACAGGCACGCGCCACCATGCCTGGCTAATTTTTTGTATTTTTAGTAGAGATGGAGTTTCCACCACGTCAGCCAGGATGGTCTGGATCTCCTGACCTCAGGTGATCTGCCCGCCTTGGCCTCCCAAACTGTTGGGATTACAGGCATGAGCCACCGCTCCCGGCCTATGTTTGACTTTTTTTTTTTCTTATTTTTTTCTTTC
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Task1_train_13438
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An alteration has been detected in ADAMTS13 (ADAM metallopeptidase with thrombospondin type 1 motif 13) on Chromosome 9. Is it pathogenic, and if so, what disease is involved?
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Pathogenic; not provided
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GAAACTGCCAAACCGTTTTCCACAGTGCCTGAACTGTTTCACATTCCCACCAGCATTGCGCCAGGGTTCCAGTTTCCCCACATCCGCTGCAGCACTTGCTGTTTTCTGTTGTTGTTTTTTCTTTTCTCTTCTTTTTTTTTTTTTTTTTTTTAATAGAGATGGGGTTTTGTCATGTTGGCCAGGCTGGTCTTGAACTCCGACCCCAGGTGATCCGCCCACCTTAGCCTCCCAAAGTGCTGGGATTACACGCGTGAGCCATGGCGCCCGGCCTGTTTTCTGTTTTTTGATTTTGGCCATCTCGGTGGTATGAAATGGTAGAAAGATTCTTTTTACATTGAGTTAAATTCTATCTCCTGCTTCGATGGCCCTGGGTGTGGGTTTGTCCCTGGCTGTATTACAGTTCTGCATGTGGTGAGACCCTCCCTTTCCTCCTTCTCCAAATGGACCACCAAGACCTCCCCAGACCGTGAGGGGAGGGTCTTTGGCTGGAGCACAGGGTGGTGGGATTTCGTGGAGGCAGTGTGGTCAGTGTGGCTGTCCAGGGAGTCAACTCCGGTTATCTTCTGTCAGCCCATAAAAGTCCAAGACGCCTGCCTGAGTGCAGAGGCTTCGGTGGTGAGGTCTTTGCTCCATGCTTTGGTTACCTGCCTCTAGGTGCACTACCTAAAGAATACACATCCCCGTCCCTGTTTTATTGAGTTCAGGCCTTGGAAGCAGAGGCTCTGAGCGTAATGCTCTTTCCTGGCTTTCTTCTTCGTTGCTGCCCTGTGTTCTTTACGGATTCCCCGGGGTTTTCCCATCAATAGAGAGAGGCAGGCACTTTTGTCACCCCAGTTTACAGAGCAGGGAACCGAGGCACGGCCTGGAGCTGAGGCCACACCCACATCTTGATCCTGTACTGTAGGGTGCCATGTAGTCTCCCAGTGACAACACCCGCCCCCCGCCCCACCGCCATCCCCCTCCTCTGCCTCCTCCTGGCCAGGCCTGCGAGAAGACCCAGCTGGAGTTCATGTCGCAACAGTGCGCCAGGACCGACGGCCAGCCGCTGCGCTCCTCCCCTGGCGGCGCCTCCTTCTACCACTGGGGTGCTGCTGTACCACACAGCCAAGGTGGGGCCTGCGGAGTGTGGGGTTGGGGGAGGAGCCAGCCCTGGAGACCCTCGGACAGGGCAGAGTCATAGGGGGGTTGGCCTACTATCCCTCCAGCACTGGGCAAAGTGGTTCAGGCTCTGGCATCCCACAGACCATGGATGACATAGTGGCCAGGCCTCGCTGGTAGATCAGGCACTGACATCCCATCTCTGAGTCTCAATTTCCCATCTGTGAAATGGAGATAATAGCAGTAGGTCCCTCCCTGGGCGCTACAAGGATTCAGGGAGATAATCGGAAAATGCCAAGTGTGTTCCTTGGTTCATGATACTTTTTTTGTGAGACAGAGTCTTGCTCTGTCGCCCAGGCTGGAGTGCAGGGGCGTAATCTCAGCTCACTGTAACCTCCGCCTCTGGGATTCAAGGGATTCTTGCCCCTCAGCCTCTCGAATAGCTGGGACTACAGGCTTGCACTACCATGCCGGCTAATTTTTTTGTATTTTTAGTAGAGATGGGGTTTCGCCATGTTGGCTAGGCTGGTTTCAAACTCCTGACGTCAGGTGATCCGCCTGCCTCGGCTTCCCAAAGTTCTGGGATTACAGGCATGAACCATTGCGCCCAGCCTTGGTTCCTAATTCAATACCATTAATTATTAGATTAGATTAGGATCGTGATTAGGATTATTGCCTTAGGAGGTGGGATGTGGGGAAGATAGAAACCCTTGCCCCAGATGCAAAGGATGAAGCTGGGTGGGGGCTGGGGGACTTGCCCCTCCTGCTCGGTTCAGGACACCCTTTTTCACTCTGCCCTCCCAGGGGATGCTCTGTGCAGACACATGTGCCGGGCCATTGGCGAGAGCTTCATCATGAAGCGTGGAGACAGCTTCCTCGATGGGACCCGGTGTATGCCAAGTGGCCCCCGGGAGGACGGGACCCTGAGCCTGTGTGTGTCGGGCAGCTGCAGGGTAGGCGTGTGTGGACATTGGCGATGGCCCTGGGGCCTACCTGTCCTATCGGAAGGCTCCTGGGGGCAGGTTGGTGGGTGCTGGCCCTGATGGAGCTGCAGTGCCCTCTGCAGGGGAGTGGTGCTGGGGAAAAGGATCTGGACTTGGAGTCAGCCTGGGTTAAGGGCTGCAGTGTGACCTTGGGCAAGTCACTGAGCCCTCTAAGCTTGCTTCCTGTGTAGATGGTGGGGTGCTATAGAAGTGTTGCTGGTTTTGTGGATCCCAGAATCTCAGAGCTGGCAGGGCTGCAGAGTCATTGAGGCCAGCACCCTCCAGTGACACGGGCCCTCTGTCCTTCCCTTTGCATAGACATTTGGCTGTGATGGTAGGATGGACTCCCAGCAGGTATGGGACAGGTGCCAGGTGTGTGGTGGGGACAACAGCACGTGCAGCCCACGGAAGGGCTCTTTCACAGCTGGCAGAGCGAGAGGTAGGCGGCCTCCCTCGGGGCAGAGGCTGGGCTTCCCCCAGCCTCCAAGATGGCCACAGCCCAGAGCGTTGGTGCAGGGGCTGCTCAGGTCACAGGGCCTGCACACTCACTCAGCCCTGGATGCCTCCTGTGGTGTCAGCGTCTCCCTCTTCCACTTCGCCACCCTTCTGTGGCAGGCTCAGGTTTTGGCCTTGATGCTGCTGGGACTGTGGTGCCTCAGTAATGGTCACTCACTGTAGCCGTGCTGCAAAAAAAACACAGACATTGGCCGGGCGCTGTGCTCACGCCTGTACTCCCGGCACTTTGGGAGGCTGAGGCGGGTGGATCACCTGTAGTCGGGAGATCACCTACAGCCTGGCCAGTATGGTGAAACCCCATCTCTACTAAAAATACAAAAATTAGCTGGGCATGATGGCGGGCGCCTGTAGTCCTAGCTACTCAGGAGGCTGAGGCAGGAGAATTGCTTGAACCCAGGAGGCAGAGGTTGCAGTGAGCCGAGATCCCTCTGCACTCCAGCCCGGGCAACAGAGTGAGACACTGTCTCAAAAAAAAAAAAAAAAAAGTATGGACGTTGTGCATTCTGTGGCAGCTACCCTCTTCTCTCCTGCTCAAGAAATCCCACTGAGAGGGACACAAGTGAATGAGAGGGTTGGTAGTTACATTTGGAAAATCTTTGACTTTGGTGTATATATGAGGTCAAAAACCATTTGCAAATGCCAGTGCTTCTATGGAGAGCAGAGACTTGAGCCCTGCCTCCCTCTGGCTTGCCCCACTGTGCTGGAGAACCTTGGACCCGGTCCCTTCTCCCAGCCAGGGCAGAGCCTTGGCAGGTGGTCCTCCAGCCTGCTTTTAATTGCCCCCATGACAGGGGACTCACTGCTGCTGGAGCCAGCCCCATGGCATTGTTCAATTTTTCCCGACCAGCTAAGATCAGCTCCCTTTGTCTGTGGTGTGGTGGCTGTGAGGTCCACGCATCTCTCCTTCTTTTCTTCTTTCTAGAATATGTCACGTTTCTGACAGTTACCCCCAACCTGACCAGTGTCTACATTGCCAACCACAGGCCTCTCTTCACACACTTGGGTGAGTTGACTGGAGGACTCCCACCCAGTTAGCTAGACTGCAAAGGTGCAGAGCACTGTTGCCAAGATGCCCTCACTTCTGACATCACCCGCAAGTTCAGGGGGTTCCCCAAACCACCCTCAGGCTTGATAGTTGACTAGGAAGACTCCCAGAGCTCACTGAGAGCTGTGGCACATGGCTGCGGCTCCTTCCAGAAGAACACAGGTTAGAATTGTCCAAGGGAAGAGATGTAGGCAGAGTCTGGGAGGGTCCAACCAGGAGGCCTGATGTCTCAGGGATGTGACACCCTTCTAGCATTGGAGCGTGGCCATACGCATGGAGTATTGCCCACACAGAAAGCCCACTGAGTGGGAGTTGAGAGTTTTTCCTGGGGTTTGAGTGCAAAGACATGATTGACTAATTGGCCAGGTGGATACTCTCAGTCTCTTGGTGACCCAGCCCCTATCCTAAATCACATAGTTGGTCTTTCTGGTACAGCCAGCCCCTGCCCTAAAGG
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GAAACTGCCAAACCGTTTTCCACAGTGCCTGAACTGTTTCACATTCCCACCAGCATTGCGCCAGGGTTCCAGTTTCCCCACATCCGCTGCAGCACTTGCTGTTTTCTGTTGTTGTTTTTTCTTTTCTCTTCTTTTTTTTTTTTTTTTTTTTAATAGAGATGGGGTTTTGTCATGTTGGCCAGGCTGGTCTTGAACTCCGACCCCAGGTGATCCGCCCACCTTAGCCTCCCAAAGTGCTGGGATTACACGCGTGAGCCATGGCGCCCGGCCTGTTTTCTGTTTTTTGATTTTGGCCATCTCGGTGGTATGAAATGGTAGAAAGATTCTTTTTACATTGAGTTAAATTCTATCTCCTGCTTCGATGGCCCTGGGTGTGGGTTTGTCCCTGGCTGTATTACAGTTCTGCATGTGGTGAGACCCTCCCTTTCCTCCTTCTCCAAATGGACCACCAAGACCTCCCCAGACCGTGAGGGGAGGGTCTTTGGCTGGAGCACAGGGTGGTGGGATTTCGTGGAGGCAGTGTGGTCAGTGTGGCTGTCCAGGGAGTCAACTCCGGTTATCTTCTGTCAGCCCATAAAAGTCCAAGACGCCTGCCTGAGTGCAGAGGCTTCGGTGGTGAGGTCTTTGCTCCATGCTTTGGTTACCTGCCTCTAGGTGCACTACCTAAAGAATACACATCCCCGTCCCTGTTTTATTGAGTTCAGGCCTTGGAAGCAGAGGCTCTGAGCGTAATGCTCTTTCCTGGCTTTCTTCTTCGTTGCTGCCCTGTGTTCTTTACGGATTCCCCGGGGTTTTCCCATCAATAGAGAGAGGCAGGCACTTTTGTCACCCCAGTTTACAGAGCAGGGAACCGAGGCACGGCCTGGAGCTGAGGCCACACCCACATCTTGATCCTGTACTGTAGGGTGCCATGTAGTCTCCCAGTGACAACACCCGCCCCCCGCCCCACCGCCATCCCCCTCCTCTGCCTCCTCCTGGCCAGGCCTGCGAGAAGACCCAGCTGGAGTTCATGTCGCAACAGTGCGCCAGGACCGACGGCCAGCCGCTGCGCTCCTCCCCTGGCGGCGCCTCCTTCTACCACTGGGGTGCTGCTGTACCACACAGCCAAGGTGGGGCCTGCGGAGTGTGGGGTTGGGGGAGGAGCCAGCCCTGGAGACCCTCGGACAGGGCAGAGTCATAGGGGGGTTGGCCTACTATCCCTCCAGCACTGGGCAAAGTGGTTCAGGCTCTGGCATCCCACAGACCATGGATGACATAGTGGCCAGGCCTCGCTGGTAGATCAGGCACTGACATCCCATCTCTGAGTCTCAATTTCCCATCTGTGAAATGGAGATAATAGCAGTAGGTCCCTCCCTGGGCGCTACAAGGATTCAGGGAGATAATCGGAAAATGCCAAGTGTGTTCCTTGGTTCATGATACTTTTTTTGTGAGACAGAGTCTTGCTCTGTCGCCCAGGCTGGAGTGCAGGGGCGTAATCTCAGCTCACTGTAACCTCCGCCTCTGGGATTCAAGGGATTCTTGCCCCTCAGCCTCTCGAATAGCTGGGACTACAGGCTTGCACTACCATGCCGGCTAATTTTTTTGTATTTTTAGTAGAGATGGGGTTTCGCCATGTTGGCTAGGCTGGTTTCAAACTCCTGACGTCAGGTGATCCGCCTGCCTCGGCTTCCCAAAGTTCTGGGATTACAGGCATGAACCATTGCGCCCAGCCTTGGTTCCTAATTCAATACCATTAATTATTAGATTAGATTAGGATCGTGATTAGGATTATTGCCTTAGGAGGTGGGATGTGGGGAAGATAGAAACCCTTGCCCCAGATGCAAAGGATGAAGCTGGGTGGGGGCTGGGGGACTTGCCCCTCCTGCTCGGTTCAGGACACCCTTTTTCACTCTGCCCTCCCAGGGGATGCTCTGTGCAGACACATGTGCCGGGCCATTGGCGAGAGCTTCATCATGAAGCGTGGAGACAGCTTCCTCGATGGGACCCGGTGTATGCCAAGTGGCCCCCGGGAGGACGGGACCCTGAGCCTGTGTGTGTCGGGCAGCTGCGGGGTAGGCGTGTGTGGACATTGGCGATGGCCCTGGGGCCTACCTGTCCTATCGGAAGGCTCCTGGGGGCAGGTTGGTGGGTGCTGGCCCTGATGGAGCTGCAGTGCCCTCTGCAGGGGAGTGGTGCTGGGGAAAAGGATCTGGACTTGGAGTCAGCCTGGGTTAAGGGCTGCAGTGTGACCTTGGGCAAGTCACTGAGCCCTCTAAGCTTGCTTCCTGTGTAGATGGTGGGGTGCTATAGAAGTGTTGCTGGTTTTGTGGATCCCAGAATCTCAGAGCTGGCAGGGCTGCAGAGTCATTGAGGCCAGCACCCTCCAGTGACACGGGCCCTCTGTCCTTCCCTTTGCATAGACATTTGGCTGTGATGGTAGGATGGACTCCCAGCAGGTATGGGACAGGTGCCAGGTGTGTGGTGGGGACAACAGCACGTGCAGCCCACGGAAGGGCTCTTTCACAGCTGGCAGAGCGAGAGGTAGGCGGCCTCCCTCGGGGCAGAGGCTGGGCTTCCCCCAGCCTCCAAGATGGCCACAGCCCAGAGCGTTGGTGCAGGGGCTGCTCAGGTCACAGGGCCTGCACACTCACTCAGCCCTGGATGCCTCCTGTGGTGTCAGCGTCTCCCTCTTCCACTTCGCCACCCTTCTGTGGCAGGCTCAGGTTTTGGCCTTGATGCTGCTGGGACTGTGGTGCCTCAGTAATGGTCACTCACTGTAGCCGTGCTGCAAAAAAAACACAGACATTGGCCGGGCGCTGTGCTCACGCCTGTACTCCCGGCACTTTGGGAGGCTGAGGCGGGTGGATCACCTGTAGTCGGGAGATCACCTACAGCCTGGCCAGTATGGTGAAACCCCATCTCTACTAAAAATACAAAAATTAGCTGGGCATGATGGCGGGCGCCTGTAGTCCTAGCTACTCAGGAGGCTGAGGCAGGAGAATTGCTTGAACCCAGGAGGCAGAGGTTGCAGTGAGCCGAGATCCCTCTGCACTCCAGCCCGGGCAACAGAGTGAGACACTGTCTCAAAAAAAAAAAAAAAAAAGTATGGACGTTGTGCATTCTGTGGCAGCTACCCTCTTCTCTCCTGCTCAAGAAATCCCACTGAGAGGGACACAAGTGAATGAGAGGGTTGGTAGTTACATTTGGAAAATCTTTGACTTTGGTGTATATATGAGGTCAAAAACCATTTGCAAATGCCAGTGCTTCTATGGAGAGCAGAGACTTGAGCCCTGCCTCCCTCTGGCTTGCCCCACTGTGCTGGAGAACCTTGGACCCGGTCCCTTCTCCCAGCCAGGGCAGAGCCTTGGCAGGTGGTCCTCCAGCCTGCTTTTAATTGCCCCCATGACAGGGGACTCACTGCTGCTGGAGCCAGCCCCATGGCATTGTTCAATTTTTCCCGACCAGCTAAGATCAGCTCCCTTTGTCTGTGGTGTGGTGGCTGTGAGGTCCACGCATCTCTCCTTCTTTTCTTCTTTCTAGAATATGTCACGTTTCTGACAGTTACCCCCAACCTGACCAGTGTCTACATTGCCAACCACAGGCCTCTCTTCACACACTTGGGTGAGTTGACTGGAGGACTCCCACCCAGTTAGCTAGACTGCAAAGGTGCAGAGCACTGTTGCCAAGATGCCCTCACTTCTGACATCACCCGCAAGTTCAGGGGGTTCCCCAAACCACCCTCAGGCTTGATAGTTGACTAGGAAGACTCCCAGAGCTCACTGAGAGCTGTGGCACATGGCTGCGGCTCCTTCCAGAAGAACACAGGTTAGAATTGTCCAAGGGAAGAGATGTAGGCAGAGTCTGGGAGGGTCCAACCAGGAGGCCTGATGTCTCAGGGATGTGACACCCTTCTAGCATTGGAGCGTGGCCATACGCATGGAGTATTGCCCACACAGAAAGCCCACTGAGTGGGAGTTGAGAGTTTTTCCTGGGGTTTGAGTGCAAAGACATGATTGACTAATTGGCCAGGTGGATACTCTCAGTCTCTTGGTGACCCAGCCCCTATCCTAAATCACATAGTTGGTCTTTCTGGTACAGCCAGCCCCTGCCCTAAAGG
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Task1_train_13439
|
A mutation in ADAMTS13 (ADAM metallopeptidase with thrombospondin type 1 motif 13), located on Chromosome 9, is being studied. Determine whether it’s pathogenic or benign, and specify the linked disease.
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Pathogenic; Thrombotic thrombocytopenic purpura
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CCAGGTGTGTGGTGGGGACAACAGCACGTGCAGCCCACGGAAGGGCTCTTTCACAGCTGGCAGAGCGAGAGGTAGGCGGCCTCCCTCGGGGCAGAGGCTGGGCTTCCCCCAGCCTCCAAGATGGCCACAGCCCAGAGCGTTGGTGCAGGGGCTGCTCAGGTCACAGGGCCTGCACACTCACTCAGCCCTGGATGCCTCCTGTGGTGTCAGCGTCTCCCTCTTCCACTTCGCCACCCTTCTGTGGCAGGCTCAGGTTTTGGCCTTGATGCTGCTGGGACTGTGGTGCCTCAGTAATGGTCACTCACTGTAGCCGTGCTGCAAAAAAAACACAGACATTGGCCGGGCGCTGTGCTCACGCCTGTACTCCCGGCACTTTGGGAGGCTGAGGCGGGTGGATCACCTGTAGTCGGGAGATCACCTACAGCCTGGCCAGTATGGTGAAACCCCATCTCTACTAAAAATACAAAAATTAGCTGGGCATGATGGCGGGCGCCTGTAGTCCTAGCTACTCAGGAGGCTGAGGCAGGAGAATTGCTTGAACCCAGGAGGCAGAGGTTGCAGTGAGCCGAGATCCCTCTGCACTCCAGCCCGGGCAACAGAGTGAGACACTGTCTCAAAAAAAAAAAAAAAAAAGTATGGACGTTGTGCATTCTGTGGCAGCTACCCTCTTCTCTCCTGCTCAAGAAATCCCACTGAGAGGGACACAAGTGAATGAGAGGGTTGGTAGTTACATTTGGAAAATCTTTGACTTTGGTGTATATATGAGGTCAAAAACCATTTGCAAATGCCAGTGCTTCTATGGAGAGCAGAGACTTGAGCCCTGCCTCCCTCTGGCTTGCCCCACTGTGCTGGAGAACCTTGGACCCGGTCCCTTCTCCCAGCCAGGGCAGAGCCTTGGCAGGTGGTCCTCCAGCCTGCTTTTAATTGCCCCCATGACAGGGGACTCACTGCTGCTGGAGCCAGCCCCATGGCATTGTTCAATTTTTCCCGACCAGCTAAGATCAGCTCCCTTTGTCTGTGGTGTGGTGGCTGTGAGGTCCACGCATCTCTCCTTCTTTTCTTCTTTCTAGAATATGTCACGTTTCTGACAGTTACCCCCAACCTGACCAGTGTCTACATTGCCAACCACAGGCCTCTCTTCACACACTTGGGTGAGTTGACTGGAGGACTCCCACCCAGTTAGCTAGACTGCAAAGGTGCAGAGCACTGTTGCCAAGATGCCCTCACTTCTGACATCACCCGCAAGTTCAGGGGGTTCCCCAAACCACCCTCAGGCTTGATAGTTGACTAGGAAGACTCCCAGAGCTCACTGAGAGCTGTGGCACATGGCTGCGGCTCCTTCCAGAAGAACACAGGTTAGAATTGTCCAAGGGAAGAGATGTAGGCAGAGTCTGGGAGGGTCCAACCAGGAGGCCTGATGTCTCAGGGATGTGACACCCTTCTAGCATTGGAGCGTGGCCATACGCATGGAGTATTGCCCACACAGAAAGCCCACTGAGTGGGAGTTGAGAGTTTTTCCTGGGGTTTGAGTGCAAAGACATGATTGACTAATTGGCCAGGTGGATACTCTCAGTCTCTTGGTGACCCAGCCCCTATCCTAAATCACATAGTTGGTCTTTCTGGTACAGCCAGCCCCTGCCCTAAAGGAGGACACTTCTGCCTGGTGTGACCCGTGTTTCCTCTTGGAAGCCAACAGCAAAAGCTGGACTTCTCTTTGGGCAAGGCCCGCTTCTTTGCTATTGAGGGCCACAGTGGGTCTTTCTGGAGTGTGTCTGCACCTAACCTTTGAAGCCTTGGTTGCCGGCACTTGCCATGGGGTCCCTGAGCCCTGAGCCTGTTGAGTTCTGTGCGTGAGTGCACTTGGTCATAGCACTCACCAGGTTGTGGAAAGAGGCCTAGAGCCTCCGCTGTGGGGAAGCCTCTAGCTCAGATGCCTGTGGCTCCTTAGAGGAGGGCTGGGGACCCCGGGAAGGAGAGTCACTGACATGTGCCTGTGAGGAGGATGGGTGCTCAGCTCCACACAGCTAACAGGGCTGGTTCCCCGACAGCGGTGAGGATCGGAGGGCGCTATGTCGTGGCTGGGAAGATGAGCATCTCCCCTAACACCACCTACCCCTCCCTCCTGGAGGATGGTCGTGTCGAGTACAGAGTGGCCCTCACCGAGGACCGGCTGCCCCGCCTGGAGGAGATCCGCATCTGGGGACCCCTCCAGGAAGATGCTGACATCCAGGTCAGCAGGAGAGCCTGGGGGAGGCCAGTGGGGGCTTCTTCTTGGGGGCTATGGCTGCTTGCTCGTTTGTCTATCCATCCATTCCCTGATTCGTTCATTTATTCATTCAGCGGTCACTTACAGGGGACCCACTATGTGTTGGGCCCTGTGCTAGGCAAAATGTAGCTAGCTCCTCCAGGGGCTTAGGGTCCCACAAATATCCAAATGTGCCTGTGCCCAGAGCCCGTGGGAGAAGGCCCTGCAGTTCTGGGATCAGGTAAGGTTGGAGGGCCCAATGCAGGGGTCCAGGGCTCCCTGGGAAAGAGTGATGGAGCTGAGGTGTCAGATGAGCAGATGTTGCTGGGCCAAGCAGGGAAGGAAGCGTATGGCTGAGGGAACAGTGTCAGTGTGGGAGGGATGAAGGAAGGTCCTACTGTGTGGGTTTGTGGGGAGATGAAGGCATGGACGCAGGTGCAGTGGCATCTGGGGAGTAGGCCTTGGTGCTGAGGAAGCTGAGAACAGATGCTGGCTCTCACTGCTTCTTTGGTGCAGTGTGTGTGGGAACCGGAAGGCCTTGTTCAGGCGTGTCCTCAGTGACGTGTGCTCGCCCATGTATGTCCCCATTGGTGCTTCGCTGAGGAAGGCACGTGGAGGGTGGAGAGACATAAGCGCAGGCTGAAACAGACCTGAGAACCTTGGGAGAGGGGCCCAGTCTCAGCGGCCGGAGCAGCGTCCTCTGCCCCTACAGCAGCCAGAGACAGGAGGGCCTCCCACAGATCAGGCCAGGCCGGGCCAAAGCAAGCCCCTGTGAGCGGCTTATCCCTTCTCTTCCCCTGATATGGTTCCCTTCCTCCCCTCCCCTTGCCTGGGACATTGTATCCAGATGCTAGCTGCCGAGTGGCTCTCCCATCATCCTCTGCAGTGTGTAAAAAAGCAGATTCCCGGGTCCTCTGCATATTCCCTGAATCAGGACTTCCCTGTGTTGGGCCTGAGAAACCGCACCGTAACCAACACAGGCTTGCGGCACTGGCCAGATGTGGGCATCGAGGGGGCAGGTGCGGAATGTCACCTCGCCCTGGGCTCTGGCCTCCAGGCTGGCCTCTTTCTTGGGCTGGTCTTGGGCACAGGACCCAGTTACCCTCCTGAAGAGCCTTAGGCCCAGGAACCTGCTGAAGTTCTTCCTAGTGCTCTCCGGGCCAGTCCCAAGCCAGTAGCTGGCCACAGGTCCCCAGGGATCCAGTTTCTTCCTGCCGACCCTACCACAGGTCCCCAGGGATCCAGTTTCTTCCTGCCGACCCTACGGGCCTCAGCTCTGGCTCCAGAAGCACTTTCTGTGCTGGCCCTGCCCTAGCCCTTCTTGGGCTCCTTAGCCCAGCCTAAGGTGGGCCTGCCTCCTCCACTGCACTTTATCCTCTACCCAGCCAGCTTAGGGAACCTTCTCTGTGCTGCCCAAATACCCTATCATGTAACCCACCAATGACTTGGTAATTACCTCCCCGAGCCCTCTATCCCAACCCACTGAGAGCTCCTTGCAGCTCAGCCAGTGTCCTGTGCACTGTGCTATCCCCAGAGCCTGGTACAGGTCAGTGTTGGTGATTGCTTCCCGTTATTTTTGTCTTTGTTGTTTTTTTAGAGAGGGTCTCACTGTTGGCCAGGCTGGAGTGCTATGTTGCCCAGGCTGCTCTGAAACTCCTGGGCTCAAGTGATCTGCCTGCCTCAGGCTCCCAAAGTTTTGGGTTTACAGGCATGAGCTACCGTGCCTGGCCAGTGATTGCTTGCTGAACGAAAGATTATAGGGATGCAAGAAGAAGTTGGAAGGCTTCCCAGGGGAGGTGGCCATGACAGTGACCCTCAGGGAACCCACTGGACAAGGCCTGAAGCTCTTTG
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CCAGGTGTGTGGTGGGGACAACAGCACGTGCAGCCCACGGAAGGGCTCTTTCACAGCTGGCAGAGCGAGAGGTAGGCGGCCTCCCTCGGGGCAGAGGCTGGGCTTCCCCCAGCCTCCAAGATGGCCACAGCCCAGAGCGTTGGTGCAGGGGCTGCTCAGGTCACAGGGCCTGCACACTCACTCAGCCCTGGATGCCTCCTGTGGTGTCAGCGTCTCCCTCTTCCACTTCGCCACCCTTCTGTGGCAGGCTCAGGTTTTGGCCTTGATGCTGCTGGGACTGTGGTGCCTCAGTAATGGTCACTCACTGTAGCCGTGCTGCAAAAAAAACACAGACATTGGCCGGGCGCTGTGCTCACGCCTGTACTCCCGGCACTTTGGGAGGCTGAGGCGGGTGGATCACCTGTAGTCGGGAGATCACCTACAGCCTGGCCAGTATGGTGAAACCCCATCTCTACTAAAAATACAAAAATTAGCTGGGCATGATGGCGGGCGCCTGTAGTCCTAGCTACTCAGGAGGCTGAGGCAGGAGAATTGCTTGAACCCAGGAGGCAGAGGTTGCAGTGAGCCGAGATCCCTCTGCACTCCAGCCCGGGCAACAGAGTGAGACACTGTCTCAAAAAAAAAAAAAAAAAAGTATGGACGTTGTGCATTCTGTGGCAGCTACCCTCTTCTCTCCTGCTCAAGAAATCCCACTGAGAGGGACACAAGTGAATGAGAGGGTTGGTAGTTACATTTGGAAAATCTTTGACTTTGGTGTATATATGAGGTCAAAAACCATTTGCAAATGCCAGTGCTTCTATGGAGAGCAGAGACTTGAGCCCTGCCTCCCTCTGGCTTGCCCCACTGTGCTGGAGAACCTTGGACCCGGTCCCTTCTCCCAGCCAGGGCAGAGCCTTGGCAGGTGGTCCTCCAGCCTGCTTTTAATTGCCCCCATGACAGGGGACTCACTGCTGCTGGAGCCAGCCCCATGGCATTGTTCAATTTTTCCCGACCAGCTAAGATCAGCTCCCTTTGTCTGTGGTGTGGTGGCTGTGAGGTCCACGCATCTCTCCTTCTTTTCTTCTTTCTAGAATATGTCACGTTTCTGACAGTTACCCCCAACCTGACCAGTGTCTACATTGCCAACCACAGGCCTCTCTTCACACACTTGGGTGAGTTGACTGGAGGACTCCCACCCAGTTAGCTAGACTGCAAAGGTGCAGAGCACTGTTGCCAAGATGCCCTCACTTCTGACATCACCCGCAAGTTCAGGGGGTTCCCCAAACCACCCTCAGGCTTGATAGTTGACTAGGAAGACTCCCAGAGCTCACTGAGAGCTGTGGCACATGGCTGCGGCTCCTTCCAGAAGAACACAGGTTAGAATTGTCCAAGGGAAGAGATGTAGGCAGAGTCTGGGAGGGTCCAACCAGGAGGCCTGATGTCTCAGGGATGTGACACCCTTCTAGCATTGGAGCGTGGCCATACGCATGGAGTATTGCCCACACAGAAAGCCCACTGAGTGGGAGTTGAGAGTTTTTCCTGGGGTTTGAGTGCAAAGACATGATTGACTAATTGGCCAGGTGGATACTCTCAGTCTCTTGGTGACCCAGCCCCTATCCTAAATCACATAGTTGGTCTTTCTGGTACAGCCAGCCCCTGCCCTAAAGGAGGACACTTCTGCCTGGTGTGACCCGTGTTTCCTCTTGGAAGCCAACAGCAAAAGCTGGACTTCTCTTTGGGCAAGGCCCGCTTCTTTGCTATTGAGGGCCACAGTGGGTCTTTCTGGAGTGTGTCTGCACCTAACCTTTGAAGCCTTGGTTGCCGGCACTTGCCATGGGGTCCCTGAGCCCTGAGCCTGTTGAGTTCTGTGCGTGAGTGCACTTGGTCATAGCACTCACCAGGTTGTGGAAAGAGGCCTAGAGCCTCCGCTGTGGGGAAGCCTCTAGCTCAGATGCCTGTGGCTCCTTAGAGGAGGGCTGGGGACCCCGGGAAGGAGAGTCACTGACATGTGCCTGTGAGGAGGATGGGTGCTCAGCTCCACACAGCTAACAGGGCTGGTTCCCCGACAGTGGTGAGGATCGGAGGGCGCTATGTCGTGGCTGGGAAGATGAGCATCTCCCCTAACACCACCTACCCCTCCCTCCTGGAGGATGGTCGTGTCGAGTACAGAGTGGCCCTCACCGAGGACCGGCTGCCCCGCCTGGAGGAGATCCGCATCTGGGGACCCCTCCAGGAAGATGCTGACATCCAGGTCAGCAGGAGAGCCTGGGGGAGGCCAGTGGGGGCTTCTTCTTGGGGGCTATGGCTGCTTGCTCGTTTGTCTATCCATCCATTCCCTGATTCGTTCATTTATTCATTCAGCGGTCACTTACAGGGGACCCACTATGTGTTGGGCCCTGTGCTAGGCAAAATGTAGCTAGCTCCTCCAGGGGCTTAGGGTCCCACAAATATCCAAATGTGCCTGTGCCCAGAGCCCGTGGGAGAAGGCCCTGCAGTTCTGGGATCAGGTAAGGTTGGAGGGCCCAATGCAGGGGTCCAGGGCTCCCTGGGAAAGAGTGATGGAGCTGAGGTGTCAGATGAGCAGATGTTGCTGGGCCAAGCAGGGAAGGAAGCGTATGGCTGAGGGAACAGTGTCAGTGTGGGAGGGATGAAGGAAGGTCCTACTGTGTGGGTTTGTGGGGAGATGAAGGCATGGACGCAGGTGCAGTGGCATCTGGGGAGTAGGCCTTGGTGCTGAGGAAGCTGAGAACAGATGCTGGCTCTCACTGCTTCTTTGGTGCAGTGTGTGTGGGAACCGGAAGGCCTTGTTCAGGCGTGTCCTCAGTGACGTGTGCTCGCCCATGTATGTCCCCATTGGTGCTTCGCTGAGGAAGGCACGTGGAGGGTGGAGAGACATAAGCGCAGGCTGAAACAGACCTGAGAACCTTGGGAGAGGGGCCCAGTCTCAGCGGCCGGAGCAGCGTCCTCTGCCCCTACAGCAGCCAGAGACAGGAGGGCCTCCCACAGATCAGGCCAGGCCGGGCCAAAGCAAGCCCCTGTGAGCGGCTTATCCCTTCTCTTCCCCTGATATGGTTCCCTTCCTCCCCTCCCCTTGCCTGGGACATTGTATCCAGATGCTAGCTGCCGAGTGGCTCTCCCATCATCCTCTGCAGTGTGTAAAAAAGCAGATTCCCGGGTCCTCTGCATATTCCCTGAATCAGGACTTCCCTGTGTTGGGCCTGAGAAACCGCACCGTAACCAACACAGGCTTGCGGCACTGGCCAGATGTGGGCATCGAGGGGGCAGGTGCGGAATGTCACCTCGCCCTGGGCTCTGGCCTCCAGGCTGGCCTCTTTCTTGGGCTGGTCTTGGGCACAGGACCCAGTTACCCTCCTGAAGAGCCTTAGGCCCAGGAACCTGCTGAAGTTCTTCCTAGTGCTCTCCGGGCCAGTCCCAAGCCAGTAGCTGGCCACAGGTCCCCAGGGATCCAGTTTCTTCCTGCCGACCCTACCACAGGTCCCCAGGGATCCAGTTTCTTCCTGCCGACCCTACGGGCCTCAGCTCTGGCTCCAGAAGCACTTTCTGTGCTGGCCCTGCCCTAGCCCTTCTTGGGCTCCTTAGCCCAGCCTAAGGTGGGCCTGCCTCCTCCACTGCACTTTATCCTCTACCCAGCCAGCTTAGGGAACCTTCTCTGTGCTGCCCAAATACCCTATCATGTAACCCACCAATGACTTGGTAATTACCTCCCCGAGCCCTCTATCCCAACCCACTGAGAGCTCCTTGCAGCTCAGCCAGTGTCCTGTGCACTGTGCTATCCCCAGAGCCTGGTACAGGTCAGTGTTGGTGATTGCTTCCCGTTATTTTTGTCTTTGTTGTTTTTTTAGAGAGGGTCTCACTGTTGGCCAGGCTGGAGTGCTATGTTGCCCAGGCTGCTCTGAAACTCCTGGGCTCAAGTGATCTGCCTGCCTCAGGCTCCCAAAGTTTTGGGTTTACAGGCATGAGCTACCGTGCCTGGCCAGTGATTGCTTGCTGAACGAAAGATTATAGGGATGCAAGAAGAAGTTGGAAGGCTTCCCAGGGGAGGTGGCCATGACAGTGACCCTCAGGGAACCCACTGGACAAGGCCTGAAGCTCTTTG
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Task1_train_13440
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Chromosome 9 houses a mutation in gene ADAMTS13 (ADAM metallopeptidase with thrombospondin type 1 motif 13). Classify its clinical impact — is it pathogenic or benign, and what disease does it lead to if any?
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Pathogenic; Upshaw-Schulman syndrome
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CGAGGACCGGCTGCCCCGCCTGGAGGAGATCCGCATCTGGGGACCCCTCCAGGAAGATGCTGACATCCAGGTCAGCAGGAGAGCCTGGGGGAGGCCAGTGGGGGCTTCTTCTTGGGGGCTATGGCTGCTTGCTCGTTTGTCTATCCATCCATTCCCTGATTCGTTCATTTATTCATTCAGCGGTCACTTACAGGGGACCCACTATGTGTTGGGCCCTGTGCTAGGCAAAATGTAGCTAGCTCCTCCAGGGGCTTAGGGTCCCACAAATATCCAAATGTGCCTGTGCCCAGAGCCCGTGGGAGAAGGCCCTGCAGTTCTGGGATCAGGTAAGGTTGGAGGGCCCAATGCAGGGGTCCAGGGCTCCCTGGGAAAGAGTGATGGAGCTGAGGTGTCAGATGAGCAGATGTTGCTGGGCCAAGCAGGGAAGGAAGCGTATGGCTGAGGGAACAGTGTCAGTGTGGGAGGGATGAAGGAAGGTCCTACTGTGTGGGTTTGTGGGGAGATGAAGGCATGGACGCAGGTGCAGTGGCATCTGGGGAGTAGGCCTTGGTGCTGAGGAAGCTGAGAACAGATGCTGGCTCTCACTGCTTCTTTGGTGCAGTGTGTGTGGGAACCGGAAGGCCTTGTTCAGGCGTGTCCTCAGTGACGTGTGCTCGCCCATGTATGTCCCCATTGGTGCTTCGCTGAGGAAGGCACGTGGAGGGTGGAGAGACATAAGCGCAGGCTGAAACAGACCTGAGAACCTTGGGAGAGGGGCCCAGTCTCAGCGGCCGGAGCAGCGTCCTCTGCCCCTACAGCAGCCAGAGACAGGAGGGCCTCCCACAGATCAGGCCAGGCCGGGCCAAAGCAAGCCCCTGTGAGCGGCTTATCCCTTCTCTTCCCCTGATATGGTTCCCTTCCTCCCCTCCCCTTGCCTGGGACATTGTATCCAGATGCTAGCTGCCGAGTGGCTCTCCCATCATCCTCTGCAGTGTGTAAAAAAGCAGATTCCCGGGTCCTCTGCATATTCCCTGAATCAGGACTTCCCTGTGTTGGGCCTGAGAAACCGCACCGTAACCAACACAGGCTTGCGGCACTGGCCAGATGTGGGCATCGAGGGGGCAGGTGCGGAATGTCACCTCGCCCTGGGCTCTGGCCTCCAGGCTGGCCTCTTTCTTGGGCTGGTCTTGGGCACAGGACCCAGTTACCCTCCTGAAGAGCCTTAGGCCCAGGAACCTGCTGAAGTTCTTCCTAGTGCTCTCCGGGCCAGTCCCAAGCCAGTAGCTGGCCACAGGTCCCCAGGGATCCAGTTTCTTCCTGCCGACCCTACCACAGGTCCCCAGGGATCCAGTTTCTTCCTGCCGACCCTACGGGCCTCAGCTCTGGCTCCAGAAGCACTTTCTGTGCTGGCCCTGCCCTAGCCCTTCTTGGGCTCCTTAGCCCAGCCTAAGGTGGGCCTGCCTCCTCCACTGCACTTTATCCTCTACCCAGCCAGCTTAGGGAACCTTCTCTGTGCTGCCCAAATACCCTATCATGTAACCCACCAATGACTTGGTAATTACCTCCCCGAGCCCTCTATCCCAACCCACTGAGAGCTCCTTGCAGCTCAGCCAGTGTCCTGTGCACTGTGCTATCCCCAGAGCCTGGTACAGGTCAGTGTTGGTGATTGCTTCCCGTTATTTTTGTCTTTGTTGTTTTTTTAGAGAGGGTCTCACTGTTGGCCAGGCTGGAGTGCTATGTTGCCCAGGCTGCTCTGAAACTCCTGGGCTCAAGTGATCTGCCTGCCTCAGGCTCCCAAAGTTTTGGGTTTACAGGCATGAGCTACCGTGCCTGGCCAGTGATTGCTTGCTGAACGAAAGATTATAGGGATGCAAGAAGAAGTTGGAAGGCTTCCCAGGGGAGGTGGCCATGACAGTGACCCTCAGGGAACCCACTGGACAAGGCCTGAAGCTCTTTGTCTGCAGGTTTACAGGCGGTATGGCGAGGAGTATGGCAACCTCACCCGCCCAGACATCACCTTCACCTACTTCCAGCCTAAGCCACGGCAGGCCTGGGTGTGGGCCGCTGTGCGTGGGCCCTGCTCGGTGAGCTGTGGGGCAGGTGAGACCTGGGGAAGGCTCATCCACAGCACGGCTTGCCCCTGCAGGGAGGCGGCCTAGCCCTCCCTCTTCCCTCCCAGGGCTGCGCTGGGTAAACTACAGCTGCCTGGACCAGGCCAGGAAGGAGTTGGTGGAGACTGTCCAGTGCCAAGGGAGCCAGCAGCCACCAGCGTGGCCAGAGGCCTGCGTGCTCGAACCCTGCCCTCCCTAGTGAGTGTGGTGCTGTCTGCGCAGCTCCAAGGGGGAGAGAGGGTTCCGCTGGGGCTGCTGGGCTCTGTCCCTGGCCTATGGGGCCCATGTGGCAGGGCCGGGCTGAGCTGCTCCTGTGCAGGCTCTCATTACCCCTGCCCACAGCCCTGCAAGGGGGGCTCTGTGAGTGCCCCCATTCTGCAGGTGAGGACACTGAGGCTTGGGGCAGACATGGTGACAATGTCAGCCCAGTGGGACCCACACCTGCTGCCACCTTGTCTGGGCCACCGAGGCCTCTCTTGAGCTCAGGTACTCATGGTGAGATGGAGGTGATTGCCTACCTGGAGGGTTGTAGGGAGACTTGCGGAGCTCCTGGTGCAAAGCCCCTGGCTGTCACCACACCTGACGGGGCACACTGTTAGGGACGAGGCCATTCCTGCTGGGTGCAGGACAGGGCAGCTGCTCACCAGCCTGTGATTCGGTTGTCCTCAGGCTCAGCCGTCTGGCAGCCTGGGAACACCTGGAGAGGCTAGGCTGGCCGTAGTGCCCATTGCTTGTCCCAGACCGGGGGAGTACATCAGCACCTGCCACCCCATCACCCCAGGCCAGCCTGGGACCTGGCCAGGGTCCCGACGCTCTGTCTCCTTCCTCAGCTGGGCGGTGGGAGACTTCGGCCCATGCAGCGCCTCCTGTGGGGGTGGCCTGCGGGAGCGGCCAGTGCGCTGCGTGGAGGCCCAGGGCAGCCTCCTGAAGACATTGCCCCCAGCCCGGTGCAGAGCAGGGGCCCAGCAGCCAGCTGTGGCGCTGGAAACCTGCAACCCCCAGCCCTGCCCTGCCAGGTGAGCCCAGGGCTAGGTGGGGCTGGGAGAGGGCCTTCCTGGCAGAGCTCGTCCCTGCGCTGAGCCCCCATCCTTCTGAGAATCCCCTCCTCCTGAGGCCTCCGGCGGGGCCTCACCATCCAGGGTGATGGGCAGTGTCACCTGGCGGTTGTAAGTGCTGCTGTCAGAGTTCCTTACTACCCAGGAGAGCCTGGGCCCATTGTTTCCCTCTCTGAGCTTCCGAGCCCCTGCTCTGAAATGGGGATGCCGACCTGCCTGGGGAGGGGGGGCTTCGAGGATGAGGTCAAACTGAACGGAGTGGGAGATGTCACTTTCTCATCACCACCATCTCCCCCGTGCCCACGTGGCTGCATCTCATCCCCTCAGTGTCCAAGTTGACAGTGGCTTATCATCCTGCCCTGCCACTAACGAGCTGAGTGACAGGGCAAGTCCCCTCCTCTGTGGGCTTCAGTTTTGCGACCTGTCCGGTGGGAGGGGATTGGTCTGGATTGTTGGTGGCCCACTCATAGCTCTGGACTCCTTTCCCCGCCTCGTCATCCGTGGCAGACAAAACAGTCACCACTCTTCCCCGCTGAGGCCAGATAGGGCCTCAGAATCCTTCTCACACAGCTCTCCAGGCAGCCACTTTAGCGCAGGGCTGACTCACAGCTGAAACCCATTGGCCACCCTTGAACCTGGTGATCCAATTCCATGTGGCACCTGTTTCTCTGCACCTGCTATGGTGCATGGAGTCAGTGATTACCTGGCTGGAGGTCGGCCTCTGCCTCTGGAGAGTAGGAGGGATGGGTTCTCTTTTTTTTTTTTATTAAAAGACAGAGTCTTGTTCTCTCACCCAGGCTGGTATGCAGTGGCATGATCTTGGCTCACTGCAACCTCCTGCCTCAGCAAGTGTGCGCCACCAAGCCCAACTAATTTTTGTATTTTTTGTAGAAACAGGGTTTTGCCATGTTGCCCAGGCTGGTCTCCAACTCCCGGGCTCAAGCAGTCTGC
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CGAGGACCGGCTGCCCCGCCTGGAGGAGATCCGCATCTGGGGACCCCTCCAGGAAGATGCTGACATCCAGGTCAGCAGGAGAGCCTGGGGGAGGCCAGTGGGGGCTTCTTCTTGGGGGCTATGGCTGCTTGCTCGTTTGTCTATCCATCCATTCCCTGATTCGTTCATTTATTCATTCAGCGGTCACTTACAGGGGACCCACTATGTGTTGGGCCCTGTGCTAGGCAAAATGTAGCTAGCTCCTCCAGGGGCTTAGGGTCCCACAAATATCCAAATGTGCCTGTGCCCAGAGCCCGTGGGAGAAGGCCCTGCAGTTCTGGGATCAGGTAAGGTTGGAGGGCCCAATGCAGGGGTCCAGGGCTCCCTGGGAAAGAGTGATGGAGCTGAGGTGTCAGATGAGCAGATGTTGCTGGGCCAAGCAGGGAAGGAAGCGTATGGCTGAGGGAACAGTGTCAGTGTGGGAGGGATGAAGGAAGGTCCTACTGTGTGGGTTTGTGGGGAGATGAAGGCATGGACGCAGGTGCAGTGGCATCTGGGGAGTAGGCCTTGGTGCTGAGGAAGCTGAGAACAGATGCTGGCTCTCACTGCTTCTTTGGTGCAGTGTGTGTGGGAACCGGAAGGCCTTGTTCAGGCGTGTCCTCAGTGACGTGTGCTCGCCCATGTATGTCCCCATTGGTGCTTCGCTGAGGAAGGCACGTGGAGGGTGGAGAGACATAAGCGCAGGCTGAAACAGACCTGAGAACCTTGGGAGAGGGGCCCAGTCTCAGCGGCCGGAGCAGCGTCCTCTGCCCCTACAGCAGCCAGAGACAGGAGGGCCTCCCACAGATCAGGCCAGGCCGGGCCAAAGCAAGCCCCTGTGAGCGGCTTATCCCTTCTCTTCCCCTGATATGGTTCCCTTCCTCCCCTCCCCTTGCCTGGGACATTGTATCCAGATGCTAGCTGCCGAGTGGCTCTCCCATCATCCTCTGCAGTGTGTAAAAAAGCAGATTCCCGGGTCCTCTGCATATTCCCTGAATCAGGACTTCCCTGTGTTGGGCCTGAGAAACCGCACCGTAACCAACACAGGCTTGCGGCACTGGCCAGATGTGGGCATCGAGGGGGCAGGTGCGGAATGTCACCTCGCCCTGGGCTCTGGCCTCCAGGCTGGCCTCTTTCTTGGGCTGGTCTTGGGCACAGGACCCAGTTACCCTCCTGAAGAGCCTTAGGCCCAGGAACCTGCTGAAGTTCTTCCTAGTGCTCTCCGGGCCAGTCCCAAGCCAGTAGCTGGCCACAGGTCCCCAGGGATCCAGTTTCTTCCTGCCGACCCTACCACAGGTCCCCAGGGATCCAGTTTCTTCCTGCCGACCCTACGGGCCTCAGCTCTGGCTCCAGAAGCACTTTCTGTGCTGGCCCTGCCCTAGCCCTTCTTGGGCTCCTTAGCCCAGCCTAAGGTGGGCCTGCCTCCTCCACTGCACTTTATCCTCTACCCAGCCAGCTTAGGGAACCTTCTCTGTGCTGCCCAAATACCCTATCATGTAACCCACCAATGACTTGGTAATTACCTCCCCGAGCCCTCTATCCCAACCCACTGAGAGCTCCTTGCAGCTCAGCCAGTGTCCTGTGCACTGTGCTATCCCCAGAGCCTGGTACAGGTCAGTGTTGGTGATTGCTTCCCGTTATTTTTGTCTTTGTTGTTTTTTTAGAGAGGGTCTCACTGTTGGCCAGGCTGGAGTGCTATGTTGCCCAGGCTGCTCTGAAACTCCTGGGCTCAAGTGATCTGCCTGCCTCAGGCTCCCAAAGTTTTGGGTTTACAGGCATGAGCTACCGTGCCTGGCCAGTGATTGCTTGCTGAACGAAAGATTATAGGGATGCAAGAAGAAGTTGGAAGGCTTCCCAGGGGAGGTGGCCATGACAGTGACCCTCAGGGAACCCACTGGACAAGGCCTGAAGCTCTTTGTCTGCAGGTTTACAGGCGGTATGGCGAGGAGTATGGCAACCTCACCCGCCCAGACATCACCTTCACCTACTTCCAGCCTAAGCCACGGCAGGCCTGGGTGTGGGCCGCTGTGTGTGGGCCCTGCTCGGTGAGCTGTGGGGCAGGTGAGACCTGGGGAAGGCTCATCCACAGCACGGCTTGCCCCTGCAGGGAGGCGGCCTAGCCCTCCCTCTTCCCTCCCAGGGCTGCGCTGGGTAAACTACAGCTGCCTGGACCAGGCCAGGAAGGAGTTGGTGGAGACTGTCCAGTGCCAAGGGAGCCAGCAGCCACCAGCGTGGCCAGAGGCCTGCGTGCTCGAACCCTGCCCTCCCTAGTGAGTGTGGTGCTGTCTGCGCAGCTCCAAGGGGGAGAGAGGGTTCCGCTGGGGCTGCTGGGCTCTGTCCCTGGCCTATGGGGCCCATGTGGCAGGGCCGGGCTGAGCTGCTCCTGTGCAGGCTCTCATTACCCCTGCCCACAGCCCTGCAAGGGGGGCTCTGTGAGTGCCCCCATTCTGCAGGTGAGGACACTGAGGCTTGGGGCAGACATGGTGACAATGTCAGCCCAGTGGGACCCACACCTGCTGCCACCTTGTCTGGGCCACCGAGGCCTCTCTTGAGCTCAGGTACTCATGGTGAGATGGAGGTGATTGCCTACCTGGAGGGTTGTAGGGAGACTTGCGGAGCTCCTGGTGCAAAGCCCCTGGCTGTCACCACACCTGACGGGGCACACTGTTAGGGACGAGGCCATTCCTGCTGGGTGCAGGACAGGGCAGCTGCTCACCAGCCTGTGATTCGGTTGTCCTCAGGCTCAGCCGTCTGGCAGCCTGGGAACACCTGGAGAGGCTAGGCTGGCCGTAGTGCCCATTGCTTGTCCCAGACCGGGGGAGTACATCAGCACCTGCCACCCCATCACCCCAGGCCAGCCTGGGACCTGGCCAGGGTCCCGACGCTCTGTCTCCTTCCTCAGCTGGGCGGTGGGAGACTTCGGCCCATGCAGCGCCTCCTGTGGGGGTGGCCTGCGGGAGCGGCCAGTGCGCTGCGTGGAGGCCCAGGGCAGCCTCCTGAAGACATTGCCCCCAGCCCGGTGCAGAGCAGGGGCCCAGCAGCCAGCTGTGGCGCTGGAAACCTGCAACCCCCAGCCCTGCCCTGCCAGGTGAGCCCAGGGCTAGGTGGGGCTGGGAGAGGGCCTTCCTGGCAGAGCTCGTCCCTGCGCTGAGCCCCCATCCTTCTGAGAATCCCCTCCTCCTGAGGCCTCCGGCGGGGCCTCACCATCCAGGGTGATGGGCAGTGTCACCTGGCGGTTGTAAGTGCTGCTGTCAGAGTTCCTTACTACCCAGGAGAGCCTGGGCCCATTGTTTCCCTCTCTGAGCTTCCGAGCCCCTGCTCTGAAATGGGGATGCCGACCTGCCTGGGGAGGGGGGGCTTCGAGGATGAGGTCAAACTGAACGGAGTGGGAGATGTCACTTTCTCATCACCACCATCTCCCCCGTGCCCACGTGGCTGCATCTCATCCCCTCAGTGTCCAAGTTGACAGTGGCTTATCATCCTGCCCTGCCACTAACGAGCTGAGTGACAGGGCAAGTCCCCTCCTCTGTGGGCTTCAGTTTTGCGACCTGTCCGGTGGGAGGGGATTGGTCTGGATTGTTGGTGGCCCACTCATAGCTCTGGACTCCTTTCCCCGCCTCGTCATCCGTGGCAGACAAAACAGTCACCACTCTTCCCCGCTGAGGCCAGATAGGGCCTCAGAATCCTTCTCACACAGCTCTCCAGGCAGCCACTTTAGCGCAGGGCTGACTCACAGCTGAAACCCATTGGCCACCCTTGAACCTGGTGATCCAATTCCATGTGGCACCTGTTTCTCTGCACCTGCTATGGTGCATGGAGTCAGTGATTACCTGGCTGGAGGTCGGCCTCTGCCTCTGGAGAGTAGGAGGGATGGGTTCTCTTTTTTTTTTTTATTAAAAGACAGAGTCTTGTTCTCTCACCCAGGCTGGTATGCAGTGGCATGATCTTGGCTCACTGCAACCTCCTGCCTCAGCAAGTGTGCGCCACCAAGCCCAACTAATTTTTGTATTTTTTGTAGAAACAGGGTTTTGCCATGTTGCCCAGGCTGGTCTCCAACTCCCGGGCTCAAGCAGTCTGC
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Task1_train_13441
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Given this variant in gene ADAMTS13 (ADAM metallopeptidase with thrombospondin type 1 motif 13) on Chromosome 9, classify it as benign or pathogenic. Include the disorder it may cause if applicable.
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Pathogenic; Thrombotic thrombocytopenic purpura
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CCTGTGCTAGGCAAAATGTAGCTAGCTCCTCCAGGGGCTTAGGGTCCCACAAATATCCAAATGTGCCTGTGCCCAGAGCCCGTGGGAGAAGGCCCTGCAGTTCTGGGATCAGGTAAGGTTGGAGGGCCCAATGCAGGGGTCCAGGGCTCCCTGGGAAAGAGTGATGGAGCTGAGGTGTCAGATGAGCAGATGTTGCTGGGCCAAGCAGGGAAGGAAGCGTATGGCTGAGGGAACAGTGTCAGTGTGGGAGGGATGAAGGAAGGTCCTACTGTGTGGGTTTGTGGGGAGATGAAGGCATGGACGCAGGTGCAGTGGCATCTGGGGAGTAGGCCTTGGTGCTGAGGAAGCTGAGAACAGATGCTGGCTCTCACTGCTTCTTTGGTGCAGTGTGTGTGGGAACCGGAAGGCCTTGTTCAGGCGTGTCCTCAGTGACGTGTGCTCGCCCATGTATGTCCCCATTGGTGCTTCGCTGAGGAAGGCACGTGGAGGGTGGAGAGACATAAGCGCAGGCTGAAACAGACCTGAGAACCTTGGGAGAGGGGCCCAGTCTCAGCGGCCGGAGCAGCGTCCTCTGCCCCTACAGCAGCCAGAGACAGGAGGGCCTCCCACAGATCAGGCCAGGCCGGGCCAAAGCAAGCCCCTGTGAGCGGCTTATCCCTTCTCTTCCCCTGATATGGTTCCCTTCCTCCCCTCCCCTTGCCTGGGACATTGTATCCAGATGCTAGCTGCCGAGTGGCTCTCCCATCATCCTCTGCAGTGTGTAAAAAAGCAGATTCCCGGGTCCTCTGCATATTCCCTGAATCAGGACTTCCCTGTGTTGGGCCTGAGAAACCGCACCGTAACCAACACAGGCTTGCGGCACTGGCCAGATGTGGGCATCGAGGGGGCAGGTGCGGAATGTCACCTCGCCCTGGGCTCTGGCCTCCAGGCTGGCCTCTTTCTTGGGCTGGTCTTGGGCACAGGACCCAGTTACCCTCCTGAAGAGCCTTAGGCCCAGGAACCTGCTGAAGTTCTTCCTAGTGCTCTCCGGGCCAGTCCCAAGCCAGTAGCTGGCCACAGGTCCCCAGGGATCCAGTTTCTTCCTGCCGACCCTACCACAGGTCCCCAGGGATCCAGTTTCTTCCTGCCGACCCTACGGGCCTCAGCTCTGGCTCCAGAAGCACTTTCTGTGCTGGCCCTGCCCTAGCCCTTCTTGGGCTCCTTAGCCCAGCCTAAGGTGGGCCTGCCTCCTCCACTGCACTTTATCCTCTACCCAGCCAGCTTAGGGAACCTTCTCTGTGCTGCCCAAATACCCTATCATGTAACCCACCAATGACTTGGTAATTACCTCCCCGAGCCCTCTATCCCAACCCACTGAGAGCTCCTTGCAGCTCAGCCAGTGTCCTGTGCACTGTGCTATCCCCAGAGCCTGGTACAGGTCAGTGTTGGTGATTGCTTCCCGTTATTTTTGTCTTTGTTGTTTTTTTAGAGAGGGTCTCACTGTTGGCCAGGCTGGAGTGCTATGTTGCCCAGGCTGCTCTGAAACTCCTGGGCTCAAGTGATCTGCCTGCCTCAGGCTCCCAAAGTTTTGGGTTTACAGGCATGAGCTACCGTGCCTGGCCAGTGATTGCTTGCTGAACGAAAGATTATAGGGATGCAAGAAGAAGTTGGAAGGCTTCCCAGGGGAGGTGGCCATGACAGTGACCCTCAGGGAACCCACTGGACAAGGCCTGAAGCTCTTTGTCTGCAGGTTTACAGGCGGTATGGCGAGGAGTATGGCAACCTCACCCGCCCAGACATCACCTTCACCTACTTCCAGCCTAAGCCACGGCAGGCCTGGGTGTGGGCCGCTGTGCGTGGGCCCTGCTCGGTGAGCTGTGGGGCAGGTGAGACCTGGGGAAGGCTCATCCACAGCACGGCTTGCCCCTGCAGGGAGGCGGCCTAGCCCTCCCTCTTCCCTCCCAGGGCTGCGCTGGGTAAACTACAGCTGCCTGGACCAGGCCAGGAAGGAGTTGGTGGAGACTGTCCAGTGCCAAGGGAGCCAGCAGCCACCAGCGTGGCCAGAGGCCTGCGTGCTCGAACCCTGCCCTCCCTAGTGAGTGTGGTGCTGTCTGCGCAGCTCCAAGGGGGAGAGAGGGTTCCGCTGGGGCTGCTGGGCTCTGTCCCTGGCCTATGGGGCCCATGTGGCAGGGCCGGGCTGAGCTGCTCCTGTGCAGGCTCTCATTACCCCTGCCCACAGCCCTGCAAGGGGGGCTCTGTGAGTGCCCCCATTCTGCAGGTGAGGACACTGAGGCTTGGGGCAGACATGGTGACAATGTCAGCCCAGTGGGACCCACACCTGCTGCCACCTTGTCTGGGCCACCGAGGCCTCTCTTGAGCTCAGGTACTCATGGTGAGATGGAGGTGATTGCCTACCTGGAGGGTTGTAGGGAGACTTGCGGAGCTCCTGGTGCAAAGCCCCTGGCTGTCACCACACCTGACGGGGCACACTGTTAGGGACGAGGCCATTCCTGCTGGGTGCAGGACAGGGCAGCTGCTCACCAGCCTGTGATTCGGTTGTCCTCAGGCTCAGCCGTCTGGCAGCCTGGGAACACCTGGAGAGGCTAGGCTGGCCGTAGTGCCCATTGCTTGTCCCAGACCGGGGGAGTACATCAGCACCTGCCACCCCATCACCCCAGGCCAGCCTGGGACCTGGCCAGGGTCCCGACGCTCTGTCTCCTTCCTCAGCTGGGCGGTGGGAGACTTCGGCCCATGCAGCGCCTCCTGTGGGGGTGGCCTGCGGGAGCGGCCAGTGCGCTGCGTGGAGGCCCAGGGCAGCCTCCTGAAGACATTGCCCCCAGCCCGGTGCAGAGCAGGGGCCCAGCAGCCAGCTGTGGCGCTGGAAACCTGCAACCCCCAGCCCTGCCCTGCCAGGTGAGCCCAGGGCTAGGTGGGGCTGGGAGAGGGCCTTCCTGGCAGAGCTCGTCCCTGCGCTGAGCCCCCATCCTTCTGAGAATCCCCTCCTCCTGAGGCCTCCGGCGGGGCCTCACCATCCAGGGTGATGGGCAGTGTCACCTGGCGGTTGTAAGTGCTGCTGTCAGAGTTCCTTACTACCCAGGAGAGCCTGGGCCCATTGTTTCCCTCTCTGAGCTTCCGAGCCCCTGCTCTGAAATGGGGATGCCGACCTGCCTGGGGAGGGGGGGCTTCGAGGATGAGGTCAAACTGAACGGAGTGGGAGATGTCACTTTCTCATCACCACCATCTCCCCCGTGCCCACGTGGCTGCATCTCATCCCCTCAGTGTCCAAGTTGACAGTGGCTTATCATCCTGCCCTGCCACTAACGAGCTGAGTGACAGGGCAAGTCCCCTCCTCTGTGGGCTTCAGTTTTGCGACCTGTCCGGTGGGAGGGGATTGGTCTGGATTGTTGGTGGCCCACTCATAGCTCTGGACTCCTTTCCCCGCCTCGTCATCCGTGGCAGACAAAACAGTCACCACTCTTCCCCGCTGAGGCCAGATAGGGCCTCAGAATCCTTCTCACACAGCTCTCCAGGCAGCCACTTTAGCGCAGGGCTGACTCACAGCTGAAACCCATTGGCCACCCTTGAACCTGGTGATCCAATTCCATGTGGCACCTGTTTCTCTGCACCTGCTATGGTGCATGGAGTCAGTGATTACCTGGCTGGAGGTCGGCCTCTGCCTCTGGAGAGTAGGAGGGATGGGTTCTCTTTTTTTTTTTTATTAAAAGACAGAGTCTTGTTCTCTCACCCAGGCTGGTATGCAGTGGCATGATCTTGGCTCACTGCAACCTCCTGCCTCAGCAAGTGTGCGCCACCAAGCCCAACTAATTTTTGTATTTTTTGTAGAAACAGGGTTTTGCCATGTTGCCCAGGCTGGTCTCCAACTCCCGGGCTCAAGCAGTCTGCTCACCTCAGCCTCCTAAAGTGCTGAGCTACCGTGCCTGGCCAGGGATAGGTTCTGTCTCTGCACCCTGGGTGCAGGTGGGGTGCCTGACTGTTGAGCAGCGAGTGCTTGTTGAATGGGAACCTGCTGGCTGATGAATGGGGAACCCGGTGCTTCAGGGAGAGACCCTGAGCTTCACTTCTCTGTGGGGCTCCTCTTTGGGCTCCTGGATGTTGG
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CCTGTGCTAGGCAAAATGTAGCTAGCTCCTCCAGGGGCTTAGGGTCCCACAAATATCCAAATGTGCCTGTGCCCAGAGCCCGTGGGAGAAGGCCCTGCAGTTCTGGGATCAGGTAAGGTTGGAGGGCCCAATGCAGGGGTCCAGGGCTCCCTGGGAAAGAGTGATGGAGCTGAGGTGTCAGATGAGCAGATGTTGCTGGGCCAAGCAGGGAAGGAAGCGTATGGCTGAGGGAACAGTGTCAGTGTGGGAGGGATGAAGGAAGGTCCTACTGTGTGGGTTTGTGGGGAGATGAAGGCATGGACGCAGGTGCAGTGGCATCTGGGGAGTAGGCCTTGGTGCTGAGGAAGCTGAGAACAGATGCTGGCTCTCACTGCTTCTTTGGTGCAGTGTGTGTGGGAACCGGAAGGCCTTGTTCAGGCGTGTCCTCAGTGACGTGTGCTCGCCCATGTATGTCCCCATTGGTGCTTCGCTGAGGAAGGCACGTGGAGGGTGGAGAGACATAAGCGCAGGCTGAAACAGACCTGAGAACCTTGGGAGAGGGGCCCAGTCTCAGCGGCCGGAGCAGCGTCCTCTGCCCCTACAGCAGCCAGAGACAGGAGGGCCTCCCACAGATCAGGCCAGGCCGGGCCAAAGCAAGCCCCTGTGAGCGGCTTATCCCTTCTCTTCCCCTGATATGGTTCCCTTCCTCCCCTCCCCTTGCCTGGGACATTGTATCCAGATGCTAGCTGCCGAGTGGCTCTCCCATCATCCTCTGCAGTGTGTAAAAAAGCAGATTCCCGGGTCCTCTGCATATTCCCTGAATCAGGACTTCCCTGTGTTGGGCCTGAGAAACCGCACCGTAACCAACACAGGCTTGCGGCACTGGCCAGATGTGGGCATCGAGGGGGCAGGTGCGGAATGTCACCTCGCCCTGGGCTCTGGCCTCCAGGCTGGCCTCTTTCTTGGGCTGGTCTTGGGCACAGGACCCAGTTACCCTCCTGAAGAGCCTTAGGCCCAGGAACCTGCTGAAGTTCTTCCTAGTGCTCTCCGGGCCAGTCCCAAGCCAGTAGCTGGCCACAGGTCCCCAGGGATCCAGTTTCTTCCTGCCGACCCTACCACAGGTCCCCAGGGATCCAGTTTCTTCCTGCCGACCCTACGGGCCTCAGCTCTGGCTCCAGAAGCACTTTCTGTGCTGGCCCTGCCCTAGCCCTTCTTGGGCTCCTTAGCCCAGCCTAAGGTGGGCCTGCCTCCTCCACTGCACTTTATCCTCTACCCAGCCAGCTTAGGGAACCTTCTCTGTGCTGCCCAAATACCCTATCATGTAACCCACCAATGACTTGGTAATTACCTCCCCGAGCCCTCTATCCCAACCCACTGAGAGCTCCTTGCAGCTCAGCCAGTGTCCTGTGCACTGTGCTATCCCCAGAGCCTGGTACAGGTCAGTGTTGGTGATTGCTTCCCGTTATTTTTGTCTTTGTTGTTTTTTTAGAGAGGGTCTCACTGTTGGCCAGGCTGGAGTGCTATGTTGCCCAGGCTGCTCTGAAACTCCTGGGCTCAAGTGATCTGCCTGCCTCAGGCTCCCAAAGTTTTGGGTTTACAGGCATGAGCTACCGTGCCTGGCCAGTGATTGCTTGCTGAACGAAAGATTATAGGGATGCAAGAAGAAGTTGGAAGGCTTCCCAGGGGAGGTGGCCATGACAGTGACCCTCAGGGAACCCACTGGACAAGGCCTGAAGCTCTTTGTCTGCAGGTTTACAGGCGGTATGGCGAGGAGTATGGCAACCTCACCCGCCCAGACATCACCTTCACCTACTTCCAGCCTAAGCCACGGCAGGCCTGGGTGTGGGCCGCTGTGCGTGGGCCCTGCTCGGTGAGCTGTGGGGCAGGTGAGACCTGGGGAAGGCTCATCCACAGCACGGCTTGCCCCTGCAGGGAGGCGGCCTAGCCCTCCCTCTTCCCTCCCAGGGCTGCGCTGGGTAAACTACAGCTGCCTGGACCAGGCCAGGAAGGAGTTGGTGGAGACTGTCCAGTGCCAAGGGAGCCAGCAGCCACCAGCGTGGCCAGAGGCCCGCGTGCTCGAACCCTGCCCTCCCTAGTGAGTGTGGTGCTGTCTGCGCAGCTCCAAGGGGGAGAGAGGGTTCCGCTGGGGCTGCTGGGCTCTGTCCCTGGCCTATGGGGCCCATGTGGCAGGGCCGGGCTGAGCTGCTCCTGTGCAGGCTCTCATTACCCCTGCCCACAGCCCTGCAAGGGGGGCTCTGTGAGTGCCCCCATTCTGCAGGTGAGGACACTGAGGCTTGGGGCAGACATGGTGACAATGTCAGCCCAGTGGGACCCACACCTGCTGCCACCTTGTCTGGGCCACCGAGGCCTCTCTTGAGCTCAGGTACTCATGGTGAGATGGAGGTGATTGCCTACCTGGAGGGTTGTAGGGAGACTTGCGGAGCTCCTGGTGCAAAGCCCCTGGCTGTCACCACACCTGACGGGGCACACTGTTAGGGACGAGGCCATTCCTGCTGGGTGCAGGACAGGGCAGCTGCTCACCAGCCTGTGATTCGGTTGTCCTCAGGCTCAGCCGTCTGGCAGCCTGGGAACACCTGGAGAGGCTAGGCTGGCCGTAGTGCCCATTGCTTGTCCCAGACCGGGGGAGTACATCAGCACCTGCCACCCCATCACCCCAGGCCAGCCTGGGACCTGGCCAGGGTCCCGACGCTCTGTCTCCTTCCTCAGCTGGGCGGTGGGAGACTTCGGCCCATGCAGCGCCTCCTGTGGGGGTGGCCTGCGGGAGCGGCCAGTGCGCTGCGTGGAGGCCCAGGGCAGCCTCCTGAAGACATTGCCCCCAGCCCGGTGCAGAGCAGGGGCCCAGCAGCCAGCTGTGGCGCTGGAAACCTGCAACCCCCAGCCCTGCCCTGCCAGGTGAGCCCAGGGCTAGGTGGGGCTGGGAGAGGGCCTTCCTGGCAGAGCTCGTCCCTGCGCTGAGCCCCCATCCTTCTGAGAATCCCCTCCTCCTGAGGCCTCCGGCGGGGCCTCACCATCCAGGGTGATGGGCAGTGTCACCTGGCGGTTGTAAGTGCTGCTGTCAGAGTTCCTTACTACCCAGGAGAGCCTGGGCCCATTGTTTCCCTCTCTGAGCTTCCGAGCCCCTGCTCTGAAATGGGGATGCCGACCTGCCTGGGGAGGGGGGGCTTCGAGGATGAGGTCAAACTGAACGGAGTGGGAGATGTCACTTTCTCATCACCACCATCTCCCCCGTGCCCACGTGGCTGCATCTCATCCCCTCAGTGTCCAAGTTGACAGTGGCTTATCATCCTGCCCTGCCACTAACGAGCTGAGTGACAGGGCAAGTCCCCTCCTCTGTGGGCTTCAGTTTTGCGACCTGTCCGGTGGGAGGGGATTGGTCTGGATTGTTGGTGGCCCACTCATAGCTCTGGACTCCTTTCCCCGCCTCGTCATCCGTGGCAGACAAAACAGTCACCACTCTTCCCCGCTGAGGCCAGATAGGGCCTCAGAATCCTTCTCACACAGCTCTCCAGGCAGCCACTTTAGCGCAGGGCTGACTCACAGCTGAAACCCATTGGCCACCCTTGAACCTGGTGATCCAATTCCATGTGGCACCTGTTTCTCTGCACCTGCTATGGTGCATGGAGTCAGTGATTACCTGGCTGGAGGTCGGCCTCTGCCTCTGGAGAGTAGGAGGGATGGGTTCTCTTTTTTTTTTTTATTAAAAGACAGAGTCTTGTTCTCTCACCCAGGCTGGTATGCAGTGGCATGATCTTGGCTCACTGCAACCTCCTGCCTCAGCAAGTGTGCGCCACCAAGCCCAACTAATTTTTGTATTTTTTGTAGAAACAGGGTTTTGCCATGTTGCCCAGGCTGGTCTCCAACTCCCGGGCTCAAGCAGTCTGCTCACCTCAGCCTCCTAAAGTGCTGAGCTACCGTGCCTGGCCAGGGATAGGTTCTGTCTCTGCACCCTGGGTGCAGGTGGGGTGCCTGACTGTTGAGCAGCGAGTGCTTGTTGAATGGGAACCTGCTGGCTGATGAATGGGGAACCCGGTGCTTCAGGGAGAGACCCTGAGCTTCACTTCTCTGTGGGGCTCCTCTTTGGGCTCCTGGATGTTGG
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Task1_train_13442
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Here is a genetic alteration in ADAMTS13 (ADAM metallopeptidase with thrombospondin type 1 motif 13) on Chromosome 9. Based on the data, is it a benign variant or a cause of disease?
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Pathogenic; Upshaw-Schulman syndrome
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CAGTTCTTTTGGGTGTATATCTAGAAGTGTGGTAGCTGGGTAAGATGAGAATTCTATGTTTAATTTTTGTGGAACTGCTGGACTGTTTTCCCCAGTGGCTGCACCATTTTACATTTCCACTAATGGTGCATAAGAGTTCCAATGTCCTCCCATCCTTGCCAACACTTTTTATTTCTATGGTTTTTTTTGTTTTTGTTTTTGTTTTTGAGACAGAGTCTCATTCTGTTGCCGAGGCTGGAGTGCAGTGGCATGATCTTGGCTCATTGTAACCTTCGCCTCCGGGGCTCAAGTGATTCTCGTGCTTCAGCCTCCCGAGTAGCTAGGACTATAGGCGTCTGCCACCATGCCTGGCTAATTTTTTGTTTAGTAGAGATGGGGTTTCACCATGTTGGCCAGGCTGGTCCCAAACTCTTGACCTCAGGTGATCTGCCTGCCTTGGCCTCCCAACGTGCTGGGATTACAGGCGTGAGCCCCCACACCTGGCCTATTTCTGTGTTTTTTTTATAATGGCCATCCTAATGGGCTTGAGAAGACACACCATGTTCTTAAACGAAAACCCTGACCACTTGCTCAGTAAAATGTCAGCCTGTTTAAAACCGAGACCAAAAAGAGATTTCTTTTTCTCTCTTTTCTTTTTTGAGACAAAAAAGAAAACCTCTGTCACCAGGTTGGAGTGTAGTGGCACAATCTTAGCTCACTACAACCTCCACCACCTGGGCTGAAGCCATCCTCCCCCCTCAGCCTCCTGAATAGCTACTATACCCTGCTAATTTTTGTAGTTTTGGCAGAGATGGGATCTCCCTATGTTGCCCAGCCTGATCTCCTGAGCTCAAGCGATCCTTCTGCCTCGGCCTCTCAAAGTGCTGGGATTATAGGCATGAGCCACTGTGCCCAACCAAGAGATTTTTTTTCTTTTTCTTTTTTTTCTTTTTTTTGAGACTAAGAGTTTTCCTCTGTCGCCCAGGCTGAAGTGCAGTGGTGTGATCTTGGCTCACTGCAACCTCCGCCTCCCATGTTCAAACGATTCTCATGCCTCAGCCTCCTGAGCAGCTGGGACTCCAGCTATGTGCCACCACACCTGGCTAATTTTTTGTATTTTATTTTATTAGAGAGGGGGTTTCGCCATGATGGCCACGCTGGTCTCAAACTCCTGACCTCAGGTGATCCACCCGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACTGAGCCTATTTCTTTTGAGGATATTCCTAAAAGAGAGACTTGAGAAAACTGGCCCTAATAACATCTTTATGATAGACACAATCAGAGATTTTCATATTGTGATTTTTTTTTCTTTTTTTTTTTTTTGAGATGGAGTCTCGCTCTGTCACCCAGGCTGGAGTCCAGTGGCGCAGTCTTGGCTCACTGCAACCTCTGCCTCCTGGGTTCAAGTGATTCTCCGTCTCAGCCTCCTGAGTAGCTGGGATTACAGGTGCGCACCACCACGCTCAGCTAATTTTTGTATTTTTAGTAGAGACGGGGTTTCACCATGTTGGTCAGGCTCGTCTCGAACTCCTGACCTTGTGATCCGCCGCCCAAAGTGCTGTGATTACAGGCGTGAGCCACTGTGCCTGGCCCATATTGCAATTCTTATAATGCCTCTCGGTCAACAATAACAGCTACCATTTGTCAAGTGTCTACTGTGTGCCAGGCACTTGTTATCTTCCCTTTTAAAAATCTTTATAAATGATTCTGCAAGGTAGATGCCATTATCTTTTTTTCTAAATCTAAGATTCAGAGGGTTAAGTCAGTTGTCTGAGGTCACACAGCTGGTAAGTGGCAGAGCCGGGATTGAAACCCATGCGGGCCTTATGTGCTAGAGGTGTCCAGTGAGCCTGGGCTGCAGTCCTTGCTGAGCCTGTCCCTTGGGGCTCTGGGTCTCTGCTTTGTCCACGCAGGTCTGATGGAGCTGCGTTTCCTGTGCATGGACTCTGCCCTCAGGGTGCCTGTCCAGGAAGAGCTGTGTGGCCTGGCAAGCAAGCCTGGGAGCCGGCGGGAGGTCTGCCAGGCTGTCCCGTGCCCTGCTCGGTGAGTGAGGGGAGCAAGACTGTGTGCTGGCCTTCTCCCTGTAAGTGGGAGACCCGAGCCTTGGCTCCATGCCCGGTGACCTGCGGAGGGGGGCAGGTGCTGCTGGCTGTGCACTGTGTGAGGCTGGACCATGGCCGCCCCATCCCCCTGCCTCACTCCAAGTGCAGGCCAGAGCCCCGGCCCAGCCCCTTTGAGGACTGCAACCCAGAGCCCTGCCCTGCCAGGTGGGCCCCTTCCCAAGGAGACAGGGGGTGCTAGGTCTGCATCCTGGCTCTTTCCTCACCTCCAAGCCAGACCTTTTGACCCTCAGTGTCCTCACCAGTGGGAGCAGGTCATTTTGTGCCCCCAGAAGACTGGGGGAGTTTAATGAAAGGATTAGATGCATGTAAAGTACATGCTAAATGCAATGAGTGTAAAATGCATGCTCGATGCAACGCGTGTAAAGTACATTGCACAGGATCTGGGATGCTGTGGGTGCACATGGTTGCTGGTGCGTTTCTTCATCGCCTGCTCTTTATGGAGCACCTAGGCCCCGGGGCCGTCCTGGAGCTAGGGGACACAGCAGAGAACAAGGCAGACAAATGTCCCTGACCTCCTGGAGCAAATGCAGGGGGAAAGGGGGACAGATAATAATAGGACAGGCGGGGAATGCAGTTTGATGGATGGTGTTCAGTGCGATGCAGCCAAACACAGCGGGAGGGGAGGAGGGGAGGGCTGGCGGGGTGGGCTCCAGGGCGGTGGTGCTGGGATCACTGTTGAAGACAGACATGCAGGGCCCTTGGGTGCCCGGACCCCTGCCCCCACTGTCTCTGGGATACGACATCTGTCGTTTGCCCTCACCTTTCTCTTCTGTAAAATGGGTTTGTCCAAATGTTCTGTCCACTCTGCCAAGCCTCTTGGTGAGGACACAAGGGGGCCTCCAGAAAGAGAACCTCTCCGGGCCCTTCCCAGCTTCCTGTCTCTTCCTAGTCTGGGGAAATGAAGGGGAGACCTGGCTCCCCTGGGTTCCCAGGCCCTGGGGCTGTTTGGGGTCCCTGACTCCAGTTTGCTCCAGGTGGCAGTACAAGCTGGCGGCCTGCAGCGTGAGCTGTGGGAGAGGGGTCGTGCGGAGGATCCTGTATTGTGCCCGGGCCCATGGGGAGGACGATGGTGAGGAGATCCTGTTGGACACCCAGTGCCAGGGGCTGCCTCGCCCGGAACCCCAGGAGGCCTGCAGCCTGGAGCCCTGCCCACCTAGGTGAGTCAGCCGGTGATGGGAGGGGCAGCTCCTGGTGTGTGCAGATGCCAGGCCAGGCGCTGTGGTGTGTGCCTGTAATCGCAGCTACTTGGAAAGCTGAATCAGGAGAACCACTTGAGTCCAGGAGTGCAAGTCCAACCTGGGCAACACAGTGAGACCTCATCTCTAAAAAAAAAACAAGACGGGGCCAGGTGTGGTGGCTCACGCCTGTAATCCCAGCGCTATGGAAGGCTGAAGCGGGTGGATTACCTGAGGTCAGGAGCTTGAGACCAGCCTGGCCAACATGGTGAAACCCCATCTTTACTAAAAATACAACAATTAGGCTGGGCGCGGTGGCTCACTCCTGTAATCCCAGCACTTTGGGAGGCTGAGGCGGGCAGATCACCTGAGGTTGGGAGTTCGAGACCAGCCTGTCCAACATACAGAAACCCTGTCTCTACTAAAAATACAAAATTAGCCGGGTGTGGTGGTACATGCCTGTAATCCCAGTTACTTGGGAGGCTGAGGCAGAATCGCTTGAACCGGGGAGGCCAAGGTTGTGGTGAGCCAAGATTACGCCACTGGACTCCAGCCTGGCTAACAGCAGCAAAACTCCATCTCAAAAAAAAAAAAAAAAAAAGAAAACCCACAAAAATTAGCCTGGCGTGGTGGTGTGCACCTGTCATCCCAGCTACTTCAGAGGCGGAGGCAGGAGAATCGCTTGAACCCGGGAGGCGGAGGTTGCAGTGAGCCGAGATGGCGCCGCTGGCACTCCAGCCTGGGCTACAGAGCGAGACTCCGTCTCAAAAACAAAACAACAA
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CAGTTCTTTTGGGTGTATATCTAGAAGTGTGGTAGCTGGGTAAGATGAGAATTCTATGTTTAATTTTTGTGGAACTGCTGGACTGTTTTCCCCAGTGGCTGCACCATTTTACATTTCCACTAATGGTGCATAAGAGTTCCAATGTCCTCCCATCCTTGCCAACACTTTTTATTTCTATGGTTTTTTTTGTTTTTGTTTTTGTTTTTGAGACAGAGTCTCATTCTGTTGCCGAGGCTGGAGTGCAGTGGCATGATCTTGGCTCATTGTAACCTTCGCCTCCGGGGCTCAAGTGATTCTCGTGCTTCAGCCTCCCGAGTAGCTAGGACTATAGGCGTCTGCCACCATGCCTGGCTAATTTTTTGTTTAGTAGAGATGGGGTTTCACCATGTTGGCCAGGCTGGTCCCAAACTCTTGACCTCAGGTGATCTGCCTGCCTTGGCCTCCCAACGTGCTGGGATTACAGGCGTGAGCCCCCACACCTGGCCTATTTCTGTGTTTTTTTTATAATGGCCATCCTAATGGGCTTGAGAAGACACACCATGTTCTTAAACGAAAACCCTGACCACTTGCTCAGTAAAATGTCAGCCTGTTTAAAACCGAGACCAAAAAGAGATTTCTTTTTCTCTCTTTTCTTTTTTGAGACAAAAAAGAAAACCTCTGTCACCAGGTTGGAGTGTAGTGGCACAATCTTAGCTCACTACAACCTCCACCACCTGGGCTGAAGCCATCCTCCCCCCTCAGCCTCCTGAATAGCTACTATACCCTGCTAATTTTTGTAGTTTTGGCAGAGATGGGATCTCCCTATGTTGCCCAGCCTGATCTCCTGAGCTCAAGCGATCCTTCTGCCTCGGCCTCTCAAAGTGCTGGGATTATAGGCATGAGCCACTGTGCCCAACCAAGAGATTTTTTTTCTTTTTCTTTTTTTTCTTTTTTTTGAGACTAAGAGTTTTCCTCTGTCGCCCAGGCTGAAGTGCAGTGGTGTGATCTTGGCTCACTGCAACCTCCGCCTCCCATGTTCAAACGATTCTCATGCCTCAGCCTCCTGAGCAGCTGGGACTCCAGCTATGTGCCACCACACCTGGCTAATTTTTTGTATTTTATTTTATTAGAGAGGGGGTTTCGCCATGATGGCCACGCTGGTCTCAAACTCCTGACCTCAGGTGATCCACCCGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACTGAGCCTATTTCTTTTGAGGATATTCCTAAAAGAGAGACTTGAGAAAACTGGCCCTAATAACATCTTTATGATAGACACAATCAGAGATTTTCATATTGTGATTTTTTTTTCTTTTTTTTTTTTTTGAGATGGAGTCTCGCTCTGTCACCCAGGCTGGAGTCCAGTGGCGCAGTCTTGGCTCACTGCAACCTCTGCCTCCTGGGTTCAAGTGATTCTCCGTCTCAGCCTCCTGAGTAGCTGGGATTACAGGTGCGCACCACCACGCTCAGCTAATTTTTGTATTTTTAGTAGAGACGGGGTTTCACCATGTTGGTCAGGCTCGTCTCGAACTCCTGACCTTGTGATCCGCCGCCCAAAGTGCTGTGATTACAGGCGTGAGCCACTGTGCCTGGCCCATATTGCAATTCTTATAATGCCTCTCGGTCAACAATAACAGCTACCATTTGTCAAGTGTCTACTGTGTGCCAGGCACTTGTTATCTTCCCTTTTAAAAATCTTTATAAATGATTCTGCAAGGTAGATGCCATTATCTTTTTTTCTAAATCTAAGATTCAGAGGGTTAAGTCAGTTGTCTGAGGTCACACAGCTGGTAAGTGGCAGAGCCGGGATTGAAACCCATGCGGGCCTTATGTGCTAGAGGTGTCCAGTGAGCCTGGGCTGCAGTCCTTGCTGAGCCTGTCCCTTGGGGCTCTGGGTCTCTGCTTTGTCCACGCAGGTCTGATGGAGCTGCGTTTCCTGTGCATGGACTCTGCCCTCAGGGTGCCTGTCCAGGAAGAGCTGTGTGGCCTGGCAAGCAAGCCTGGGAGCCGGCGGGAGGTCTGCCAGGCTGTCCCGGGCCCTGCTCGGTGAGTGAGGGGAGCAAGACTGTGTGCTGGCCTTCTCCCTGTAAGTGGGAGACCCGAGCCTTGGCTCCATGCCCGGTGACCTGCGGAGGGGGGCAGGTGCTGCTGGCTGTGCACTGTGTGAGGCTGGACCATGGCCGCCCCATCCCCCTGCCTCACTCCAAGTGCAGGCCAGAGCCCCGGCCCAGCCCCTTTGAGGACTGCAACCCAGAGCCCTGCCCTGCCAGGTGGGCCCCTTCCCAAGGAGACAGGGGGTGCTAGGTCTGCATCCTGGCTCTTTCCTCACCTCCAAGCCAGACCTTTTGACCCTCAGTGTCCTCACCAGTGGGAGCAGGTCATTTTGTGCCCCCAGAAGACTGGGGGAGTTTAATGAAAGGATTAGATGCATGTAAAGTACATGCTAAATGCAATGAGTGTAAAATGCATGCTCGATGCAACGCGTGTAAAGTACATTGCACAGGATCTGGGATGCTGTGGGTGCACATGGTTGCTGGTGCGTTTCTTCATCGCCTGCTCTTTATGGAGCACCTAGGCCCCGGGGCCGTCCTGGAGCTAGGGGACACAGCAGAGAACAAGGCAGACAAATGTCCCTGACCTCCTGGAGCAAATGCAGGGGGAAAGGGGGACAGATAATAATAGGACAGGCGGGGAATGCAGTTTGATGGATGGTGTTCAGTGCGATGCAGCCAAACACAGCGGGAGGGGAGGAGGGGAGGGCTGGCGGGGTGGGCTCCAGGGCGGTGGTGCTGGGATCACTGTTGAAGACAGACATGCAGGGCCCTTGGGTGCCCGGACCCCTGCCCCCACTGTCTCTGGGATACGACATCTGTCGTTTGCCCTCACCTTTCTCTTCTGTAAAATGGGTTTGTCCAAATGTTCTGTCCACTCTGCCAAGCCTCTTGGTGAGGACACAAGGGGGCCTCCAGAAAGAGAACCTCTCCGGGCCCTTCCCAGCTTCCTGTCTCTTCCTAGTCTGGGGAAATGAAGGGGAGACCTGGCTCCCCTGGGTTCCCAGGCCCTGGGGCTGTTTGGGGTCCCTGACTCCAGTTTGCTCCAGGTGGCAGTACAAGCTGGCGGCCTGCAGCGTGAGCTGTGGGAGAGGGGTCGTGCGGAGGATCCTGTATTGTGCCCGGGCCCATGGGGAGGACGATGGTGAGGAGATCCTGTTGGACACCCAGTGCCAGGGGCTGCCTCGCCCGGAACCCCAGGAGGCCTGCAGCCTGGAGCCCTGCCCACCTAGGTGAGTCAGCCGGTGATGGGAGGGGCAGCTCCTGGTGTGTGCAGATGCCAGGCCAGGCGCTGTGGTGTGTGCCTGTAATCGCAGCTACTTGGAAAGCTGAATCAGGAGAACCACTTGAGTCCAGGAGTGCAAGTCCAACCTGGGCAACACAGTGAGACCTCATCTCTAAAAAAAAAACAAGACGGGGCCAGGTGTGGTGGCTCACGCCTGTAATCCCAGCGCTATGGAAGGCTGAAGCGGGTGGATTACCTGAGGTCAGGAGCTTGAGACCAGCCTGGCCAACATGGTGAAACCCCATCTTTACTAAAAATACAACAATTAGGCTGGGCGCGGTGGCTCACTCCTGTAATCCCAGCACTTTGGGAGGCTGAGGCGGGCAGATCACCTGAGGTTGGGAGTTCGAGACCAGCCTGTCCAACATACAGAAACCCTGTCTCTACTAAAAATACAAAATTAGCCGGGTGTGGTGGTACATGCCTGTAATCCCAGTTACTTGGGAGGCTGAGGCAGAATCGCTTGAACCGGGGAGGCCAAGGTTGTGGTGAGCCAAGATTACGCCACTGGACTCCAGCCTGGCTAACAGCAGCAAAACTCCATCTCAAAAAAAAAAAAAAAAAAAGAAAACCCACAAAAATTAGCCTGGCGTGGTGGTGTGCACCTGTCATCCCAGCTACTTCAGAGGCGGAGGCAGGAGAATCGCTTGAACCCGGGAGGCGGAGGTTGCAGTGAGCCGAGATGGCGCCGCTGGCACTCCAGCCTGGGCTACAGAGCGAGACTCCGTCTCAAAAACAAAACAACAA
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Task1_train_13443
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This is a variant in ADAMTS13 (ADAM metallopeptidase with thrombospondin type 1 motif 13), located on Chromosome 9. Is this mutation a likely cause of disease or not?
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Pathogenic; Thrombotic thrombocytopenic purpura
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TTCTCTTGCCCATACAAAATTGTTTTAAATGTTGTAGCTTTATAACCATTTAACATCTGTGTCACTAGTGTGTCCTGATTTCTTTGCCTATGCTAAAGTCCCTTGGCTGTGTGTCCCATTTATTTTTCCACATCACATTTAGAGATGATCTGGGATTTTATGGGAATTGCAGGGTTTTTCACACTGCACGCTGCCTGCATGGTGCTTAAACTTCACCTCCCACACCTAGCACAGCCTACCAGGTAGCCCTGTTCTCTACAGACCACCTCTTGGGCCACTGAGCCTCCCCTCACTTTTTTTTAGAGATGGGGTCTCACTATGTTGCCCAGTCTGGACTTGAATTCCTGGGCTCAAGTGATCCTCCTGCTTCAGCCTCCCGAGTAGCTGGGATGCAGGCACACACTACATGAGCTCTGGCCATCCCTCTGACGTTGCTGTAGCCACGCTGGCCTCATTGTCCTGGAACATTCCAGGGATACTCCCCTGACTTAGGGCTTCTGTGCTAGCTCTCGCTGCCTGATGTCTTCTGTGGATATCCTCGAGGCCCTGGATATCCCTCCCCCAGGCTCGGCTCAGACACCACAACTCCAAAGTGGCCCAGTGCCCTCCCTGAGCGTCGGTCCAGAACGGCACTCTCGTCCCTCCTGTGACGCTCTGCTTGGCACTTTGGGAGGCTGAGGCGGGAGGATTGCTTGAGCCCAGGAGTTCTAGACCAGCCTGGGCAACATAGTGAGACCCCGTCTCTACAAAAAATACAAAAATTGGCTGTGCGCGGTGGCTTATGCCTGTAATCCCAGCACTTTGGGAGGCGAAGGCGGGCAGATCACGAGGTCAGGAGATCGAGACCATCCTGGCTAACACGGTGAAACCCTGTCTCTACTAAAAATACAAAAAATTAGCTGGGTGTAGTGGTGGGTGCCTGTAGTCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATGACGTGAACCCAGGAGGCGGAGCTTGCAGTGAGCTGAGATTGTGCTACTGCACTCCAGCCTGGGTGGTTGCAGTGAGCTGAGATTGTGCCACTGCACTCCAGCCTGGGCGATGAGTGAGACTCCATCTCAAAAACAAAAACAAACAAACAAAAATTACAAAAATTAGCCAGGCATGATGGCACATGCCTGTAGTCTCAGCTACTTGGGAGGCTGAGGTGAGAGGATGGCTTGAACCCTGGAGGTTGAGGCTGCAGTGAGCCGTGATCACACCACTGCCCTCCAGCCTGGGTGACAGGGCGAGACCGTGTCTCAAAGAAAACCATTAAAATAAAATAAAAAATAAAATTTCTGCGATGCACACGACAGCCTCCACAGCAAATCAGCATCCAGTTGCTCATGCCAGTGATGCCCCAATGGAGAACAATCCACGCTCTGAGAGGAGGTGGGGTCTGGTTTGGTTCACTGCCACCTCCCAGTGTCATGTAGAACAGTGCCAAGCCGCGGAAGGCACGGGTCCAAGAGGCAGCGCTGCAGGGTCATGGGGGAGCACAGTATTGCGATGAAGATCCCAGCTCCCTTGCAGGCTGCCTGGGTTTGTGTCTGGGCTCTGAAGAATGCGGGCCATAATTAGTTATTGATTGATTACAGATCAACATGGGCAGCCTTCCCTTGCCCAAGGGAAGGGAACTCGGCCTTCCCTTGCAGAACGTGGGGTGTTGAGATCTGTCTCCTGTTACCCAGGGGCTCGCTTCCTGTTGCTGTTACTTGGGTCCATAGGCAACCCCTGGGGTGCTGACAGGTGTTCTGTGATAAAGGCGACTAGAGGGGGATGTGCAATTAGGGAAACAGGGGCCTCTTCCCCCTAGGGCCTTTTGGTAGCTCTCCTGTGGCCGTGAGCCCTGGCCCCAGACAGGAGGGGCTCAGTGGCTGCACTTTCCATCTTGCCTGGCCACGGAAGCTGTCTAGGCAACTGTCCGAGTACACGTGGGTGGAGAGGGGCCTGCGTGGGGCAGTACTGTCTCTGGGGAGACCTAGCCTCTCTCTGGGGTCTTCTCTTCCTGCAGGTGGAAAGTCATGTCCCTTGGCCCATGTTCGGCCAGCTGTGGCCTTGGCACTGCTAGACGCTCGGTGGCCTGTGTGCAGCTCGACCAAGGCCAGGACGTGGAGGTGGACGAGGCGGCCTGTGCGGCGCTGGTGCGGCCCGAGGCCAGTGTCCCCTGTCTCATTGCCGACTGCACCTACCGCTGGCATGTTGGCACCTGGATGGAGGTGAGCACAGCGGGCACTCGGAATCCCTATGGGGCTGGGGTGGGCATCAGCTGTGGCTCCTCATGTGTGAGGGAGTCTAGGAGGCATTGGCTCATCGTGTCCCCTGAAAGGAAGGAGAGAGCTGCGCCCGTTGGTGAGGGGGCACCTAGAGGCAGAGAGACAGAGGGCCTAGAGACCTGCGGGCAGCTAGGACTTAAGAGGCCCTTAGGTTTGGGGACGCTGGAAGATGAATGGCAGGCCACTCAGCTCTACACAGATGAGGGAATGCCAGCTGTGCCACGCACCTGGCAAGGCAGGACAGACAAGGGTAAATGGGGTTCAGGCTGCCCCCTGGAGGGGCTCGCTCATGGTGTGGAGGGGGCATAGGGGCACAGCAGACAGAGATGAGCCGCAGCCCCGCAGACCTGCTTGCTCTAAGGCTTGGAGGGACAGAGAGGCCGTGAGGGTGACAGGGACCCAGACTTGAATTATGGCTCCTCCCACCTATATGACCCATGCAAGGTGCCCTCTCTGAGCCTCAGTTTTCTCATCTGTGGAATGGAGACACTTAACTGCCTCCCAGCTTGTACAAGGATTATATTGGATCACTCCTGGCCTGTGGTTACCACTGTCCTTGTCACCTTCTGGCAGGGTCAGCTGTGACTCCTCCTCCCCTCTCTTGGCAGTGCTCTGTTTCCTGTGGGGATGGCATCCAGCGCCGGCGTGACACCTGCCTCGGACCCCAGGCCCAGGCGCCTGTGCCAGCTGATTTCTGCCAGCACTTGCCCAAGCCGGTGACTGTGCGTGGCTGCTGGGCTGGGCCCTGTGTGGGACAGGGTACGCCCAGCCTGGTGCCCCACGAAGAAGCCGCTGCTCCAGGACGGACCACAGCCACCCCTGCTGGTGCCTCCCTGGAGTGGTCCCAGGCCCGGGGCCTGCTCTTCTCCCCGGCTCCCCAGCCTCGGCGGCTCCTGCCCGGGCCCCAGGAAAACTCAGTGCAGTCCAGTTATGTCCTGTCCTCCTTCCTGTCAGGCAGCTGCTGCAGGAGGGGTGGGCAAAGGCATCTTCCTCTGGGAAGGACTGGCACAAGCACTTGGTCCCTGGGTTGTGTGCCTGGGAGGCCGGGATCAGGGCTGGCCCTCTTTCTCCCTGGCAAAGCAAAACCTCCCTTTTACTACTATCAAGGGGAAGTAACTTGAAGGTAGGAACCCAGCTTGTGAGCCCCCTAGCCTCTGGGCTGCTCTGCATGTGCCCCCTCTTGCTGGATCATCTGGTAGCAGCCCTGTGCCCTGAGGGTGATGCTCTGACCTATGCAGCCCCCCTCCCTGTCCTGAGAAGGCTTCCAGCTGGGCCTTGGAGGACAGGGTCCACCCCTACCTCCTGGTCTCCTTCCTCAGCTTGGAAGCCCCGGAGCCTGCCCTGCTGGGAATCGGGGAAGCACTGCTTACCTGTCTCCTGCTCCCTTTTCAGGTGCCTGTGGCAGGCAGCACCTTGAGCCAACAGGAACCATTGACATGCGAGGCCCAGGGCAGGCAGACTGTGCAGTGGCCATTGGGCGGCCCCTCGGGGAGGTGGTGACCCTCCGCGTCCTTGAGAGTTCTCTCAACTGCAGTGCGGGTATGTCTAGGGCCATGCAAGCGATGCTGCCAGTTATGGGCCCTGCCAGGAGCCAGCACGACGCTGCATGCCCCATTCCTGGCAGGAGCCCATGTGCATTCCCACCTGTAGTTTGCATCCCATCTCATGACTGGGGAGTGATGATCTGCATTTTACAGATGAGGAAACTGAGGCTAGGAGAGATTAAGTGATGTGCCCAGTTACTTAGAGTCACATAGCCAGCAGTGGGAGAGGTGGGACTTGAACTCGGCTCAGTCTACCCTGGAGCCACT
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TTCTCTTGCCCATACAAAATTGTTTTAAATGTTGTAGCTTTATAACCATTTAACATCTGTGTCACTAGTGTGTCCTGATTTCTTTGCCTATGCTAAAGTCCCTTGGCTGTGTGTCCCATTTATTTTTCCACATCACATTTAGAGATGATCTGGGATTTTATGGGAATTGCAGGGTTTTTCACACTGCACGCTGCCTGCATGGTGCTTAAACTTCACCTCCCACACCTAGCACAGCCTACCAGGTAGCCCTGTTCTCTACAGACCACCTCTTGGGCCACTGAGCCTCCCCTCACTTTTTTTTAGAGATGGGGTCTCACTATGTTGCCCAGTCTGGACTTGAATTCCTGGGCTCAAGTGATCCTCCTGCTTCAGCCTCCCGAGTAGCTGGGATGCAGGCACACACTACATGAGCTCTGGCCATCCCTCTGACGTTGCTGTAGCCACGCTGGCCTCATTGTCCTGGAACATTCCAGGGATACTCCCCTGACTTAGGGCTTCTGTGCTAGCTCTCGCTGCCTGATGTCTTCTGTGGATATCCTCGAGGCCCTGGATATCCCTCCCCCAGGCTCGGCTCAGACACCACAACTCCAAAGTGGCCCAGTGCCCTCCCTGAGCGTCGGTCCAGAACGGCACTCTCGTCCCTCCTGTGACGCTCTGCTTGGCACTTTGGGAGGCTGAGGCGGGAGGATTGCTTGAGCCCAGGAGTTCTAGACCAGCCTGGGCAACATAGTGAGACCCCGTCTCTACAAAAAATACAAAAATTGGCTGTGCGCGGTGGCTTATGCCTGTAATCCCAGCACTTTGGGAGGCGAAGGCGGGCAGATCACGAGGTCAGGAGATCGAGACCATCCTGGCTAACACGGTGAAACCCTGTCTCTACTAAAAATACAAAAAATTAGCTGGGTGTAGTGGTGGGTGCCTGTAGTCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATGACGTGAACCCAGGAGGCGGAGCTTGCAGTGAGCTGAGATTGTGCTACTGCACTCCAGCCTGGGTGGTTGCAGTGAGCTGAGATTGTGCCACTGCACTCCAGCCTGGGCGATGAGTGAGACTCCATCTCAAAAACAAAAACAAACAAACAAAAATTACAAAAATTAGCCAGGCATGATGGCACATGCCTGTAGTCTCAGCTACTTGGGAGGCTGAGGTGAGAGGATGGCTTGAACCCTGGAGGTTGAGGCTGCAGTGAGCCGTGATCACACCACTGCCCTCCAGCCTGGGTGACAGGGCGAGACCGTGTCTCAAAGAAAACCATTAAAATAAAATAAAAAATAAAATTTCTGCGATGCACACGACAGCCTCCACAGCAAATCAGCATCCAGTTGCTCATGCCAGTGATGCCCCAATGGAGAACAATCCACGCTCTGAGAGGAGGTGGGGTCTGGTTTGGTTCACTGCCACCTCCCAGTGTCATGTAGAACAGTGCCAAGCCGCGGAAGGCACGGGTCCAAGAGGCAGCGCTGCAGGGTCATGGGGGAGCACAGTATTGCGATGAAGATCCCAGCTCCCTTGCAGGCTGCCTGGGTTTGTGTCTGGGCTCTGAAGAATGCGGGCCATAATTAGTTATTGATTGATTACAGATCAACATGGGCAGCCTTCCCTTGCCCAAGGGAAGGGAACTCGGCCTTCCCTTGCAGAACGTGGGGTGTTGAGATCTGTCTCCTGTTACCCAGGGGCTCGCTTCCTGTTGCTGTTACTTGGGTCCATAGGCAACCCCTGGGGTGCTGACAGGTGTTCTGTGATAAAGGCGACTAGAGGGGGATGTGCAATTAGGGAAACAGGGGCCTCTTCCCCCTAGGGCCTTTTGGTAGCTCTCCTGTGGCCGTGAGCCCTGGCCCCAGACAGGAGGGGCTCAGTGGCTGCACTTTCCATCTTGCCTGGCCACGGAAGCTGTCTAGGCAACTGTCCGAGTACACGTGGGTGGAGAGGGGCCTGCGTGGGGCAGTACTGTCTCTGGGGAGACCTAGCCTCTCTCTGGGGTCTTCTCTTCCTGCAGGTGGAAAGTCATGTCCCTTGGCCCAGGTTCGGCCAGCTGTGGCCTTGGCACTGCTAGACGCTCGGTGGCCTGTGTGCAGCTCGACCAAGGCCAGGACGTGGAGGTGGACGAGGCGGCCTGTGCGGCGCTGGTGCGGCCCGAGGCCAGTGTCCCCTGTCTCATTGCCGACTGCACCTACCGCTGGCATGTTGGCACCTGGATGGAGGTGAGCACAGCGGGCACTCGGAATCCCTATGGGGCTGGGGTGGGCATCAGCTGTGGCTCCTCATGTGTGAGGGAGTCTAGGAGGCATTGGCTCATCGTGTCCCCTGAAAGGAAGGAGAGAGCTGCGCCCGTTGGTGAGGGGGCACCTAGAGGCAGAGAGACAGAGGGCCTAGAGACCTGCGGGCAGCTAGGACTTAAGAGGCCCTTAGGTTTGGGGACGCTGGAAGATGAATGGCAGGCCACTCAGCTCTACACAGATGAGGGAATGCCAGCTGTGCCACGCACCTGGCAAGGCAGGACAGACAAGGGTAAATGGGGTTCAGGCTGCCCCCTGGAGGGGCTCGCTCATGGTGTGGAGGGGGCATAGGGGCACAGCAGACAGAGATGAGCCGCAGCCCCGCAGACCTGCTTGCTCTAAGGCTTGGAGGGACAGAGAGGCCGTGAGGGTGACAGGGACCCAGACTTGAATTATGGCTCCTCCCACCTATATGACCCATGCAAGGTGCCCTCTCTGAGCCTCAGTTTTCTCATCTGTGGAATGGAGACACTTAACTGCCTCCCAGCTTGTACAAGGATTATATTGGATCACTCCTGGCCTGTGGTTACCACTGTCCTTGTCACCTTCTGGCAGGGTCAGCTGTGACTCCTCCTCCCCTCTCTTGGCAGTGCTCTGTTTCCTGTGGGGATGGCATCCAGCGCCGGCGTGACACCTGCCTCGGACCCCAGGCCCAGGCGCCTGTGCCAGCTGATTTCTGCCAGCACTTGCCCAAGCCGGTGACTGTGCGTGGCTGCTGGGCTGGGCCCTGTGTGGGACAGGGTACGCCCAGCCTGGTGCCCCACGAAGAAGCCGCTGCTCCAGGACGGACCACAGCCACCCCTGCTGGTGCCTCCCTGGAGTGGTCCCAGGCCCGGGGCCTGCTCTTCTCCCCGGCTCCCCAGCCTCGGCGGCTCCTGCCCGGGCCCCAGGAAAACTCAGTGCAGTCCAGTTATGTCCTGTCCTCCTTCCTGTCAGGCAGCTGCTGCAGGAGGGGTGGGCAAAGGCATCTTCCTCTGGGAAGGACTGGCACAAGCACTTGGTCCCTGGGTTGTGTGCCTGGGAGGCCGGGATCAGGGCTGGCCCTCTTTCTCCCTGGCAAAGCAAAACCTCCCTTTTACTACTATCAAGGGGAAGTAACTTGAAGGTAGGAACCCAGCTTGTGAGCCCCCTAGCCTCTGGGCTGCTCTGCATGTGCCCCCTCTTGCTGGATCATCTGGTAGCAGCCCTGTGCCCTGAGGGTGATGCTCTGACCTATGCAGCCCCCCTCCCTGTCCTGAGAAGGCTTCCAGCTGGGCCTTGGAGGACAGGGTCCACCCCTACCTCCTGGTCTCCTTCCTCAGCTTGGAAGCCCCGGAGCCTGCCCTGCTGGGAATCGGGGAAGCACTGCTTACCTGTCTCCTGCTCCCTTTTCAGGTGCCTGTGGCAGGCAGCACCTTGAGCCAACAGGAACCATTGACATGCGAGGCCCAGGGCAGGCAGACTGTGCAGTGGCCATTGGGCGGCCCCTCGGGGAGGTGGTGACCCTCCGCGTCCTTGAGAGTTCTCTCAACTGCAGTGCGGGTATGTCTAGGGCCATGCAAGCGATGCTGCCAGTTATGGGCCCTGCCAGGAGCCAGCACGACGCTGCATGCCCCATTCCTGGCAGGAGCCCATGTGCATTCCCACCTGTAGTTTGCATCCCATCTCATGACTGGGGAGTGATGATCTGCATTTTACAGATGAGGAAACTGAGGCTAGGAGAGATTAAGTGATGTGCCCAGTTACTTAGAGTCACATAGCCAGCAGTGGGAGAGGTGGGACTTGAACTCGGCTCAGTCTACCCTGGAGCCACT
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Task1_train_13444
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Gene ADAMTS13 (ADAM metallopeptidase with thrombospondin type 1 motif 13) on Chromosome 9 is impacted by this variant. Evaluate whether it is clinically benign or pathogenic and name the disorder if relevant.
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Pathogenic; Upshaw-Schulman syndrome
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TTCTCTTGCCCATACAAAATTGTTTTAAATGTTGTAGCTTTATAACCATTTAACATCTGTGTCACTAGTGTGTCCTGATTTCTTTGCCTATGCTAAAGTCCCTTGGCTGTGTGTCCCATTTATTTTTCCACATCACATTTAGAGATGATCTGGGATTTTATGGGAATTGCAGGGTTTTTCACACTGCACGCTGCCTGCATGGTGCTTAAACTTCACCTCCCACACCTAGCACAGCCTACCAGGTAGCCCTGTTCTCTACAGACCACCTCTTGGGCCACTGAGCCTCCCCTCACTTTTTTTTAGAGATGGGGTCTCACTATGTTGCCCAGTCTGGACTTGAATTCCTGGGCTCAAGTGATCCTCCTGCTTCAGCCTCCCGAGTAGCTGGGATGCAGGCACACACTACATGAGCTCTGGCCATCCCTCTGACGTTGCTGTAGCCACGCTGGCCTCATTGTCCTGGAACATTCCAGGGATACTCCCCTGACTTAGGGCTTCTGTGCTAGCTCTCGCTGCCTGATGTCTTCTGTGGATATCCTCGAGGCCCTGGATATCCCTCCCCCAGGCTCGGCTCAGACACCACAACTCCAAAGTGGCCCAGTGCCCTCCCTGAGCGTCGGTCCAGAACGGCACTCTCGTCCCTCCTGTGACGCTCTGCTTGGCACTTTGGGAGGCTGAGGCGGGAGGATTGCTTGAGCCCAGGAGTTCTAGACCAGCCTGGGCAACATAGTGAGACCCCGTCTCTACAAAAAATACAAAAATTGGCTGTGCGCGGTGGCTTATGCCTGTAATCCCAGCACTTTGGGAGGCGAAGGCGGGCAGATCACGAGGTCAGGAGATCGAGACCATCCTGGCTAACACGGTGAAACCCTGTCTCTACTAAAAATACAAAAAATTAGCTGGGTGTAGTGGTGGGTGCCTGTAGTCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATGACGTGAACCCAGGAGGCGGAGCTTGCAGTGAGCTGAGATTGTGCTACTGCACTCCAGCCTGGGTGGTTGCAGTGAGCTGAGATTGTGCCACTGCACTCCAGCCTGGGCGATGAGTGAGACTCCATCTCAAAAACAAAAACAAACAAACAAAAATTACAAAAATTAGCCAGGCATGATGGCACATGCCTGTAGTCTCAGCTACTTGGGAGGCTGAGGTGAGAGGATGGCTTGAACCCTGGAGGTTGAGGCTGCAGTGAGCCGTGATCACACCACTGCCCTCCAGCCTGGGTGACAGGGCGAGACCGTGTCTCAAAGAAAACCATTAAAATAAAATAAAAAATAAAATTTCTGCGATGCACACGACAGCCTCCACAGCAAATCAGCATCCAGTTGCTCATGCCAGTGATGCCCCAATGGAGAACAATCCACGCTCTGAGAGGAGGTGGGGTCTGGTTTGGTTCACTGCCACCTCCCAGTGTCATGTAGAACAGTGCCAAGCCGCGGAAGGCACGGGTCCAAGAGGCAGCGCTGCAGGGTCATGGGGGAGCACAGTATTGCGATGAAGATCCCAGCTCCCTTGCAGGCTGCCTGGGTTTGTGTCTGGGCTCTGAAGAATGCGGGCCATAATTAGTTATTGATTGATTACAGATCAACATGGGCAGCCTTCCCTTGCCCAAGGGAAGGGAACTCGGCCTTCCCTTGCAGAACGTGGGGTGTTGAGATCTGTCTCCTGTTACCCAGGGGCTCGCTTCCTGTTGCTGTTACTTGGGTCCATAGGCAACCCCTGGGGTGCTGACAGGTGTTCTGTGATAAAGGCGACTAGAGGGGGATGTGCAATTAGGGAAACAGGGGCCTCTTCCCCCTAGGGCCTTTTGGTAGCTCTCCTGTGGCCGTGAGCCCTGGCCCCAGACAGGAGGGGCTCAGTGGCTGCACTTTCCATCTTGCCTGGCCACGGAAGCTGTCTAGGCAACTGTCCGAGTACACGTGGGTGGAGAGGGGCCTGCGTGGGGCAGTACTGTCTCTGGGGAGACCTAGCCTCTCTCTGGGGTCTTCTCTTCCTGCAGGTGGAAAGTCATGTCCCTTGGCCCATGTTCGGCCAGCTGTGGCCTTGGCACTGCTAGACGCTCGGTGGCCTGTGTGCAGCTCGACCAAGGCCAGGACGTGGAGGTGGACGAGGCGGCCTGTGCGGCGCTGGTGCGGCCCGAGGCCAGTGTCCCCTGTCTCATTGCCGACTGCACCTACCGCTGGCATGTTGGCACCTGGATGGAGGTGAGCACAGCGGGCACTCGGAATCCCTATGGGGCTGGGGTGGGCATCAGCTGTGGCTCCTCATGTGTGAGGGAGTCTAGGAGGCATTGGCTCATCGTGTCCCCTGAAAGGAAGGAGAGAGCTGCGCCCGTTGGTGAGGGGGCACCTAGAGGCAGAGAGACAGAGGGCCTAGAGACCTGCGGGCAGCTAGGACTTAAGAGGCCCTTAGGTTTGGGGACGCTGGAAGATGAATGGCAGGCCACTCAGCTCTACACAGATGAGGGAATGCCAGCTGTGCCACGCACCTGGCAAGGCAGGACAGACAAGGGTAAATGGGGTTCAGGCTGCCCCCTGGAGGGGCTCGCTCATGGTGTGGAGGGGGCATAGGGGCACAGCAGACAGAGATGAGCCGCAGCCCCGCAGACCTGCTTGCTCTAAGGCTTGGAGGGACAGAGAGGCCGTGAGGGTGACAGGGACCCAGACTTGAATTATGGCTCCTCCCACCTATATGACCCATGCAAGGTGCCCTCTCTGAGCCTCAGTTTTCTCATCTGTGGAATGGAGACACTTAACTGCCTCCCAGCTTGTACAAGGATTATATTGGATCACTCCTGGCCTGTGGTTACCACTGTCCTTGTCACCTTCTGGCAGGGTCAGCTGTGACTCCTCCTCCCCTCTCTTGGCAGTGCTCTGTTTCCTGTGGGGATGGCATCCAGCGCCGGCGTGACACCTGCCTCGGACCCCAGGCCCAGGCGCCTGTGCCAGCTGATTTCTGCCAGCACTTGCCCAAGCCGGTGACTGTGCGTGGCTGCTGGGCTGGGCCCTGTGTGGGACAGGGTACGCCCAGCCTGGTGCCCCACGAAGAAGCCGCTGCTCCAGGACGGACCACAGCCACCCCTGCTGGTGCCTCCCTGGAGTGGTCCCAGGCCCGGGGCCTGCTCTTCTCCCCGGCTCCCCAGCCTCGGCGGCTCCTGCCCGGGCCCCAGGAAAACTCAGTGCAGTCCAGTTATGTCCTGTCCTCCTTCCTGTCAGGCAGCTGCTGCAGGAGGGGTGGGCAAAGGCATCTTCCTCTGGGAAGGACTGGCACAAGCACTTGGTCCCTGGGTTGTGTGCCTGGGAGGCCGGGATCAGGGCTGGCCCTCTTTCTCCCTGGCAAAGCAAAACCTCCCTTTTACTACTATCAAGGGGAAGTAACTTGAAGGTAGGAACCCAGCTTGTGAGCCCCCTAGCCTCTGGGCTGCTCTGCATGTGCCCCCTCTTGCTGGATCATCTGGTAGCAGCCCTGTGCCCTGAGGGTGATGCTCTGACCTATGCAGCCCCCCTCCCTGTCCTGAGAAGGCTTCCAGCTGGGCCTTGGAGGACAGGGTCCACCCCTACCTCCTGGTCTCCTTCCTCAGCTTGGAAGCCCCGGAGCCTGCCCTGCTGGGAATCGGGGAAGCACTGCTTACCTGTCTCCTGCTCCCTTTTCAGGTGCCTGTGGCAGGCAGCACCTTGAGCCAACAGGAACCATTGACATGCGAGGCCCAGGGCAGGCAGACTGTGCAGTGGCCATTGGGCGGCCCCTCGGGGAGGTGGTGACCCTCCGCGTCCTTGAGAGTTCTCTCAACTGCAGTGCGGGTATGTCTAGGGCCATGCAAGCGATGCTGCCAGTTATGGGCCCTGCCAGGAGCCAGCACGACGCTGCATGCCCCATTCCTGGCAGGAGCCCATGTGCATTCCCACCTGTAGTTTGCATCCCATCTCATGACTGGGGAGTGATGATCTGCATTTTACAGATGAGGAAACTGAGGCTAGGAGAGATTAAGTGATGTGCCCAGTTACTTAGAGTCACATAGCCAGCAGTGGGAGAGGTGGGACTTGAACTCGGCTCAGTCTACCCTGGAGCCACT
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TTCTCTTGCCCATACAAAATTGTTTTAAATGTTGTAGCTTTATAACCATTTAACATCTGTGTCACTAGTGTGTCCTGATTTCTTTGCCTATGCTAAAGTCCCTTGGCTGTGTGTCCCATTTATTTTTCCACATCACATTTAGAGATGATCTGGGATTTTATGGGAATTGCAGGGTTTTTCACACTGCACGCTGCCTGCATGGTGCTTAAACTTCACCTCCCACACCTAGCACAGCCTACCAGGTAGCCCTGTTCTCTACAGACCACCTCTTGGGCCACTGAGCCTCCCCTCACTTTTTTTTAGAGATGGGGTCTCACTATGTTGCCCAGTCTGGACTTGAATTCCTGGGCTCAAGTGATCCTCCTGCTTCAGCCTCCCGAGTAGCTGGGATGCAGGCACACACTACATGAGCTCTGGCCATCCCTCTGACGTTGCTGTAGCCACGCTGGCCTCATTGTCCTGGAACATTCCAGGGATACTCCCCTGACTTAGGGCTTCTGTGCTAGCTCTCGCTGCCTGATGTCTTCTGTGGATATCCTCGAGGCCCTGGATATCCCTCCCCCAGGCTCGGCTCAGACACCACAACTCCAAAGTGGCCCAGTGCCCTCCCTGAGCGTCGGTCCAGAACGGCACTCTCGTCCCTCCTGTGACGCTCTGCTTGGCACTTTGGGAGGCTGAGGCGGGAGGATTGCTTGAGCCCAGGAGTTCTAGACCAGCCTGGGCAACATAGTGAGACCCCGTCTCTACAAAAAATACAAAAATTGGCTGTGCGCGGTGGCTTATGCCTGTAATCCCAGCACTTTGGGAGGCGAAGGCGGGCAGATCACGAGGTCAGGAGATCGAGACCATCCTGGCTAACACGGTGAAACCCTGTCTCTACTAAAAATACAAAAAATTAGCTGGGTGTAGTGGTGGGTGCCTGTAGTCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATGACGTGAACCCAGGAGGCGGAGCTTGCAGTGAGCTGAGATTGTGCTACTGCACTCCAGCCTGGGTGGTTGCAGTGAGCTGAGATTGTGCCACTGCACTCCAGCCTGGGCGATGAGTGAGACTCCATCTCAAAAACAAAAACAAACAAACAAAAATTACAAAAATTAGCCAGGCATGATGGCACATGCCTGTAGTCTCAGCTACTTGGGAGGCTGAGGTGAGAGGATGGCTTGAACCCTGGAGGTTGAGGCTGCAGTGAGCCGTGATCACACCACTGCCCTCCAGCCTGGGTGACAGGGCGAGACCGTGTCTCAAAGAAAACCATTAAAATAAAATAAAAAATAAAATTTCTGCGATGCACACGACAGCCTCCACAGCAAATCAGCATCCAGTTGCTCATGCCAGTGATGCCCCAATGGAGAACAATCCACGCTCTGAGAGGAGGTGGGGTCTGGTTTGGTTCACTGCCACCTCCCAGTGTCATGTAGAACAGTGCCAAGCCGCGGAAGGCACGGGTCCAAGAGGCAGCGCTGCAGGGTCATGGGGGAGCACAGTATTGCGATGAAGATCCCAGCTCCCTTGCAGGCTGCCTGGGTTTGTGTCTGGGCTCTGAAGAATGCGGGCCATAATTAGTTATTGATTGATTACAGATCAACATGGGCAGCCTTCCCTTGCCCAAGGGAAGGGAACTCGGCCTTCCCTTGCAGAACGTGGGGTGTTGAGATCTGTCTCCTGTTACCCAGGGGCTCGCTTCCTGTTGCTGTTACTTGGGTCCATAGGCAACCCCTGGGGTGCTGACAGGTGTTCTGTGATAAAGGCGACTAGAGGGGGATGTGCAATTAGGGAAACAGGGGCCTCTTCCCCCTAGGGCCTTTTGGTAGCTCTCCTGTGGCCGTGAGCCCTGGCCCCAGACAGGAGGGGCTCAGTGGCTGCACTTTCCATCTTGCCTGGCCACGGAAGCTGTCTAGGCAACTGTCCGAGTACACGTGGGTGGAGAGGGGCCTGCGTGGGGCAGTACTGTCTCTGGGGAGACCTAGCCTCTCTCTGGGGTCTTCTCTTCCTGCAGGTGGAAAGTCATGTCCCTTGGCCCAGGTTCGGCCAGCTGTGGCCTTGGCACTGCTAGACGCTCGGTGGCCTGTGTGCAGCTCGACCAAGGCCAGGACGTGGAGGTGGACGAGGCGGCCTGTGCGGCGCTGGTGCGGCCCGAGGCCAGTGTCCCCTGTCTCATTGCCGACTGCACCTACCGCTGGCATGTTGGCACCTGGATGGAGGTGAGCACAGCGGGCACTCGGAATCCCTATGGGGCTGGGGTGGGCATCAGCTGTGGCTCCTCATGTGTGAGGGAGTCTAGGAGGCATTGGCTCATCGTGTCCCCTGAAAGGAAGGAGAGAGCTGCGCCCGTTGGTGAGGGGGCACCTAGAGGCAGAGAGACAGAGGGCCTAGAGACCTGCGGGCAGCTAGGACTTAAGAGGCCCTTAGGTTTGGGGACGCTGGAAGATGAATGGCAGGCCACTCAGCTCTACACAGATGAGGGAATGCCAGCTGTGCCACGCACCTGGCAAGGCAGGACAGACAAGGGTAAATGGGGTTCAGGCTGCCCCCTGGAGGGGCTCGCTCATGGTGTGGAGGGGGCATAGGGGCACAGCAGACAGAGATGAGCCGCAGCCCCGCAGACCTGCTTGCTCTAAGGCTTGGAGGGACAGAGAGGCCGTGAGGGTGACAGGGACCCAGACTTGAATTATGGCTCCTCCCACCTATATGACCCATGCAAGGTGCCCTCTCTGAGCCTCAGTTTTCTCATCTGTGGAATGGAGACACTTAACTGCCTCCCAGCTTGTACAAGGATTATATTGGATCACTCCTGGCCTGTGGTTACCACTGTCCTTGTCACCTTCTGGCAGGGTCAGCTGTGACTCCTCCTCCCCTCTCTTGGCAGTGCTCTGTTTCCTGTGGGGATGGCATCCAGCGCCGGCGTGACACCTGCCTCGGACCCCAGGCCCAGGCGCCTGTGCCAGCTGATTTCTGCCAGCACTTGCCCAAGCCGGTGACTGTGCGTGGCTGCTGGGCTGGGCCCTGTGTGGGACAGGGTACGCCCAGCCTGGTGCCCCACGAAGAAGCCGCTGCTCCAGGACGGACCACAGCCACCCCTGCTGGTGCCTCCCTGGAGTGGTCCCAGGCCCGGGGCCTGCTCTTCTCCCCGGCTCCCCAGCCTCGGCGGCTCCTGCCCGGGCCCCAGGAAAACTCAGTGCAGTCCAGTTATGTCCTGTCCTCCTTCCTGTCAGGCAGCTGCTGCAGGAGGGGTGGGCAAAGGCATCTTCCTCTGGGAAGGACTGGCACAAGCACTTGGTCCCTGGGTTGTGTGCCTGGGAGGCCGGGATCAGGGCTGGCCCTCTTTCTCCCTGGCAAAGCAAAACCTCCCTTTTACTACTATCAAGGGGAAGTAACTTGAAGGTAGGAACCCAGCTTGTGAGCCCCCTAGCCTCTGGGCTGCTCTGCATGTGCCCCCTCTTGCTGGATCATCTGGTAGCAGCCCTGTGCCCTGAGGGTGATGCTCTGACCTATGCAGCCCCCCTCCCTGTCCTGAGAAGGCTTCCAGCTGGGCCTTGGAGGACAGGGTCCACCCCTACCTCCTGGTCTCCTTCCTCAGCTTGGAAGCCCCGGAGCCTGCCCTGCTGGGAATCGGGGAAGCACTGCTTACCTGTCTCCTGCTCCCTTTTCAGGTGCCTGTGGCAGGCAGCACCTTGAGCCAACAGGAACCATTGACATGCGAGGCCCAGGGCAGGCAGACTGTGCAGTGGCCATTGGGCGGCCCCTCGGGGAGGTGGTGACCCTCCGCGTCCTTGAGAGTTCTCTCAACTGCAGTGCGGGTATGTCTAGGGCCATGCAAGCGATGCTGCCAGTTATGGGCCCTGCCAGGAGCCAGCACGACGCTGCATGCCCCATTCCTGGCAGGAGCCCATGTGCATTCCCACCTGTAGTTTGCATCCCATCTCATGACTGGGGAGTGATGATCTGCATTTTACAGATGAGGAAACTGAGGCTAGGAGAGATTAAGTGATGTGCCCAGTTACTTAGAGTCACATAGCCAGCAGTGGGAGAGGTGGGACTTGAACTCGGCTCAGTCTACCCTGGAGCCACT
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Task1_train_13445
|
A mutation in ADAMTS13 (ADAM metallopeptidase with thrombospondin type 1 motif 13), located on Chromosome 9, is being studied. Determine whether it’s pathogenic or benign, and specify the linked disease.
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Pathogenic; Upshaw-Schulman syndrome
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TGAACCCAGGAGGCGGAGCTTGCAGTGAGCTGAGATTGTGCTACTGCACTCCAGCCTGGGTGGTTGCAGTGAGCTGAGATTGTGCCACTGCACTCCAGCCTGGGCGATGAGTGAGACTCCATCTCAAAAACAAAAACAAACAAACAAAAATTACAAAAATTAGCCAGGCATGATGGCACATGCCTGTAGTCTCAGCTACTTGGGAGGCTGAGGTGAGAGGATGGCTTGAACCCTGGAGGTTGAGGCTGCAGTGAGCCGTGATCACACCACTGCCCTCCAGCCTGGGTGACAGGGCGAGACCGTGTCTCAAAGAAAACCATTAAAATAAAATAAAAAATAAAATTTCTGCGATGCACACGACAGCCTCCACAGCAAATCAGCATCCAGTTGCTCATGCCAGTGATGCCCCAATGGAGAACAATCCACGCTCTGAGAGGAGGTGGGGTCTGGTTTGGTTCACTGCCACCTCCCAGTGTCATGTAGAACAGTGCCAAGCCGCGGAAGGCACGGGTCCAAGAGGCAGCGCTGCAGGGTCATGGGGGAGCACAGTATTGCGATGAAGATCCCAGCTCCCTTGCAGGCTGCCTGGGTTTGTGTCTGGGCTCTGAAGAATGCGGGCCATAATTAGTTATTGATTGATTACAGATCAACATGGGCAGCCTTCCCTTGCCCAAGGGAAGGGAACTCGGCCTTCCCTTGCAGAACGTGGGGTGTTGAGATCTGTCTCCTGTTACCCAGGGGCTCGCTTCCTGTTGCTGTTACTTGGGTCCATAGGCAACCCCTGGGGTGCTGACAGGTGTTCTGTGATAAAGGCGACTAGAGGGGGATGTGCAATTAGGGAAACAGGGGCCTCTTCCCCCTAGGGCCTTTTGGTAGCTCTCCTGTGGCCGTGAGCCCTGGCCCCAGACAGGAGGGGCTCAGTGGCTGCACTTTCCATCTTGCCTGGCCACGGAAGCTGTCTAGGCAACTGTCCGAGTACACGTGGGTGGAGAGGGGCCTGCGTGGGGCAGTACTGTCTCTGGGGAGACCTAGCCTCTCTCTGGGGTCTTCTCTTCCTGCAGGTGGAAAGTCATGTCCCTTGGCCCATGTTCGGCCAGCTGTGGCCTTGGCACTGCTAGACGCTCGGTGGCCTGTGTGCAGCTCGACCAAGGCCAGGACGTGGAGGTGGACGAGGCGGCCTGTGCGGCGCTGGTGCGGCCCGAGGCCAGTGTCCCCTGTCTCATTGCCGACTGCACCTACCGCTGGCATGTTGGCACCTGGATGGAGGTGAGCACAGCGGGCACTCGGAATCCCTATGGGGCTGGGGTGGGCATCAGCTGTGGCTCCTCATGTGTGAGGGAGTCTAGGAGGCATTGGCTCATCGTGTCCCCTGAAAGGAAGGAGAGAGCTGCGCCCGTTGGTGAGGGGGCACCTAGAGGCAGAGAGACAGAGGGCCTAGAGACCTGCGGGCAGCTAGGACTTAAGAGGCCCTTAGGTTTGGGGACGCTGGAAGATGAATGGCAGGCCACTCAGCTCTACACAGATGAGGGAATGCCAGCTGTGCCACGCACCTGGCAAGGCAGGACAGACAAGGGTAAATGGGGTTCAGGCTGCCCCCTGGAGGGGCTCGCTCATGGTGTGGAGGGGGCATAGGGGCACAGCAGACAGAGATGAGCCGCAGCCCCGCAGACCTGCTTGCTCTAAGGCTTGGAGGGACAGAGAGGCCGTGAGGGTGACAGGGACCCAGACTTGAATTATGGCTCCTCCCACCTATATGACCCATGCAAGGTGCCCTCTCTGAGCCTCAGTTTTCTCATCTGTGGAATGGAGACACTTAACTGCCTCCCAGCTTGTACAAGGATTATATTGGATCACTCCTGGCCTGTGGTTACCACTGTCCTTGTCACCTTCTGGCAGGGTCAGCTGTGACTCCTCCTCCCCTCTCTTGGCAGTGCTCTGTTTCCTGTGGGGATGGCATCCAGCGCCGGCGTGACACCTGCCTCGGACCCCAGGCCCAGGCGCCTGTGCCAGCTGATTTCTGCCAGCACTTGCCCAAGCCGGTGACTGTGCGTGGCTGCTGGGCTGGGCCCTGTGTGGGACAGGGTACGCCCAGCCTGGTGCCCCACGAAGAAGCCGCTGCTCCAGGACGGACCACAGCCACCCCTGCTGGTGCCTCCCTGGAGTGGTCCCAGGCCCGGGGCCTGCTCTTCTCCCCGGCTCCCCAGCCTCGGCGGCTCCTGCCCGGGCCCCAGGAAAACTCAGTGCAGTCCAGTTATGTCCTGTCCTCCTTCCTGTCAGGCAGCTGCTGCAGGAGGGGTGGGCAAAGGCATCTTCCTCTGGGAAGGACTGGCACAAGCACTTGGTCCCTGGGTTGTGTGCCTGGGAGGCCGGGATCAGGGCTGGCCCTCTTTCTCCCTGGCAAAGCAAAACCTCCCTTTTACTACTATCAAGGGGAAGTAACTTGAAGGTAGGAACCCAGCTTGTGAGCCCCCTAGCCTCTGGGCTGCTCTGCATGTGCCCCCTCTTGCTGGATCATCTGGTAGCAGCCCTGTGCCCTGAGGGTGATGCTCTGACCTATGCAGCCCCCCTCCCTGTCCTGAGAAGGCTTCCAGCTGGGCCTTGGAGGACAGGGTCCACCCCTACCTCCTGGTCTCCTTCCTCAGCTTGGAAGCCCCGGAGCCTGCCCTGCTGGGAATCGGGGAAGCACTGCTTACCTGTCTCCTGCTCCCTTTTCAGGTGCCTGTGGCAGGCAGCACCTTGAGCCAACAGGAACCATTGACATGCGAGGCCCAGGGCAGGCAGACTGTGCAGTGGCCATTGGGCGGCCCCTCGGGGAGGTGGTGACCCTCCGCGTCCTTGAGAGTTCTCTCAACTGCAGTGCGGGTATGTCTAGGGCCATGCAAGCGATGCTGCCAGTTATGGGCCCTGCCAGGAGCCAGCACGACGCTGCATGCCCCATTCCTGGCAGGAGCCCATGTGCATTCCCACCTGTAGTTTGCATCCCATCTCATGACTGGGGAGTGATGATCTGCATTTTACAGATGAGGAAACTGAGGCTAGGAGAGATTAAGTGATGTGCCCAGTTACTTAGAGTCACATAGCCAGCAGTGGGAGAGGTGGGACTTGAACTCGGCTCAGTCTACCCTGGAGCCACTCCTCTGCTGACCAGGCGTGGGAGTGCTGGACCCTCACTGCCCTGCCGCTTCCTAGGGGACATGTTGCTGCTTTGGGGCCGGCTCACCTGGAGGAAGATGTGCAGGAAGCTGTTGGACATGACTTTCAGCTCCAAGACCAACACGCTGGTGGTGAGGCAGCGCTGCGGGCGGCCAGGAGGTGGGGTGCTGCTGCGGTATGGGAGCCAGCTTGCTCCTGAAACCTTCTACAGAGGTATGGCCAGGCCTTCTCCACCTCCCTTGGGTGCTCCAGTCCTGGCAGGGAGGCTGGGTGGGTGCTGCTGGGGATGGGGCCAGTCCCAGTGGGGCAGTGGGAAGATACGGAGGGAACTGACTGAGATGGAAGGAACTGGGGTTGGCCAGTGTCAGTCTGCACGTGCCAGGGAGGGGTCACAGGATGAATGCTATATCCCTCCTTTTTGGGACCGTGCAGCAAGATGGACGGATGTGGGACATGGTCCACATCCTCAGTCAGTCCCTCAGGCCTCTGCCCCACACCCACCTGCCCCGCCCCCACCCCTCCAGCCTTTCAAGGGCTTTTAGGGTTTTGTGGAAGCCACTGTCCCTCAGCCCTGTTTCAGTGCACTGGTGTAAGCAGACATGCTTGTACATGCATGTGCACCCACAAGCACACCTCAGGCAGAGGATGCCACCTCAGGGACTCCAGCCTTGCCCGTGGCCCCCTCGATATCCTCTGATAGCCCTCTCGGTTGTCCTGGGGGGCTTGCCCTCTCCCAACAGCCCGAGCTGGCCGAAGTTGGCTTCCCTAGCTGGTTCCAGAGGTTCCTCGGCTCCCCCAGGTGTCTGGGGCTTAGTGGCAACAGGGGCTTAGCCTCTGCAGAGACCTAGTGCGCCGCCTCCTTGCCCCAGACCTGCCCGGGCAGAGAGCCGTGTATGTGTCCCAGTGCACAGGCGCTGCTGGGCCCTGCCAAAAGGCCACAAGC
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TGAACCCAGGAGGCGGAGCTTGCAGTGAGCTGAGATTGTGCTACTGCACTCCAGCCTGGGTGGTTGCAGTGAGCTGAGATTGTGCCACTGCACTCCAGCCTGGGCGATGAGTGAGACTCCATCTCAAAAACAAAAACAAACAAACAAAAATTACAAAAATTAGCCAGGCATGATGGCACATGCCTGTAGTCTCAGCTACTTGGGAGGCTGAGGTGAGAGGATGGCTTGAACCCTGGAGGTTGAGGCTGCAGTGAGCCGTGATCACACCACTGCCCTCCAGCCTGGGTGACAGGGCGAGACCGTGTCTCAAAGAAAACCATTAAAATAAAATAAAAAATAAAATTTCTGCGATGCACACGACAGCCTCCACAGCAAATCAGCATCCAGTTGCTCATGCCAGTGATGCCCCAATGGAGAACAATCCACGCTCTGAGAGGAGGTGGGGTCTGGTTTGGTTCACTGCCACCTCCCAGTGTCATGTAGAACAGTGCCAAGCCGCGGAAGGCACGGGTCCAAGAGGCAGCGCTGCAGGGTCATGGGGGAGCACAGTATTGCGATGAAGATCCCAGCTCCCTTGCAGGCTGCCTGGGTTTGTGTCTGGGCTCTGAAGAATGCGGGCCATAATTAGTTATTGATTGATTACAGATCAACATGGGCAGCCTTCCCTTGCCCAAGGGAAGGGAACTCGGCCTTCCCTTGCAGAACGTGGGGTGTTGAGATCTGTCTCCTGTTACCCAGGGGCTCGCTTCCTGTTGCTGTTACTTGGGTCCATAGGCAACCCCTGGGGTGCTGACAGGTGTTCTGTGATAAAGGCGACTAGAGGGGGATGTGCAATTAGGGAAACAGGGGCCTCTTCCCCCTAGGGCCTTTTGGTAGCTCTCCTGTGGCCGTGAGCCCTGGCCCCAGACAGGAGGGGCTCAGTGGCTGCACTTTCCATCTTGCCTGGCCACGGAAGCTGTCTAGGCAACTGTCCGAGTACACGTGGGTGGAGAGGGGCCTGCGTGGGGCAGTACTGTCTCTGGGGAGACCTAGCCTCTCTCTGGGGTCTTCTCTTCCTGCAGGTGGAAAGTCATGTCCCTTGGCCCATGTTCGGCCAGCTGTGGCCTTGGCACTGCTAGACGCTCGGTGGCCTGTGTGCAGCTCGACCAAGGCCAGGACGTGGAGGTGGACGAGGCGGCCTGTGCGGCGCTGGTGCGGCCCGAGGCCAGTGTCCCCTGTCTCATTGCCGACTGCACCTACCGCTGGCATGTTGGCACCTGGATGGAGGTGAGCACAGCGGGCACTCGGAATCCCTATGGGGCTGGGGTGGGCATCAGCTGTGGCTCCTCATGTGTGAGGGAGTCTAGGAGGCATTGGCTCATCGTGTCCCCTGAAAGGAAGGAGAGAGCTGCGCCCGTTGGTGAGGGGGCACCTAGAGGCAGAGAGACAGAGGGCCTAGAGACCTGCGGGCAGCTAGGACTTAAGAGGCCCTTAGGTTTGGGGACGCTGGAAGATGAATGGCAGGCCACTCAGCTCTACACAGATGAGGGAATGCCAGCTGTGCCACGCACCTGGCAAGGCAGGACAGACAAGGGTAAATGGGGTTCAGGCTGCCCCCTGGAGGGGCTCGCTCATGGTGTGGAGGGGGCATAGGGGCACAGCAGACAGAGATGAGCCGCAGCCCCGCAGACCTGCTTGCTCTAAGGCTTGGAGGGACAGAGAGGCCGTGAGGGTGACAGGGACCCAGACTTGAATTATGGCTCCTCCCACCTATATGACCCATGCAAGGTGCCCTCTCTGAGCCTCAGTTTTCTCATCTGTGGAATGGAGACACTTAACTGCCTCCCAGCTTGTACAAGGATTATATTGGATCACTCCTGGCCTGTGGTTACCACTGTCCTTGTCACCTTCTGGCAGGGTCAGCTGTGACTCCTCCTCCCCTCTCTTGGCAGTGCTCTGTTTCCTGTGGGGATGGCATCCAGCGCCGGCGTGACACCTGCCTCGGACCCCAGGCCCAGGCGCCTGTGCCAGCTGATTTCTGCCAGCACTTGCCCAAGCCGGTGACTGTGTGTGGCTGCTGGGCTGGGCCCTGTGTGGGACAGGGTACGCCCAGCCTGGTGCCCCACGAAGAAGCCGCTGCTCCAGGACGGACCACAGCCACCCCTGCTGGTGCCTCCCTGGAGTGGTCCCAGGCCCGGGGCCTGCTCTTCTCCCCGGCTCCCCAGCCTCGGCGGCTCCTGCCCGGGCCCCAGGAAAACTCAGTGCAGTCCAGTTATGTCCTGTCCTCCTTCCTGTCAGGCAGCTGCTGCAGGAGGGGTGGGCAAAGGCATCTTCCTCTGGGAAGGACTGGCACAAGCACTTGGTCCCTGGGTTGTGTGCCTGGGAGGCCGGGATCAGGGCTGGCCCTCTTTCTCCCTGGCAAAGCAAAACCTCCCTTTTACTACTATCAAGGGGAAGTAACTTGAAGGTAGGAACCCAGCTTGTGAGCCCCCTAGCCTCTGGGCTGCTCTGCATGTGCCCCCTCTTGCTGGATCATCTGGTAGCAGCCCTGTGCCCTGAGGGTGATGCTCTGACCTATGCAGCCCCCCTCCCTGTCCTGAGAAGGCTTCCAGCTGGGCCTTGGAGGACAGGGTCCACCCCTACCTCCTGGTCTCCTTCCTCAGCTTGGAAGCCCCGGAGCCTGCCCTGCTGGGAATCGGGGAAGCACTGCTTACCTGTCTCCTGCTCCCTTTTCAGGTGCCTGTGGCAGGCAGCACCTTGAGCCAACAGGAACCATTGACATGCGAGGCCCAGGGCAGGCAGACTGTGCAGTGGCCATTGGGCGGCCCCTCGGGGAGGTGGTGACCCTCCGCGTCCTTGAGAGTTCTCTCAACTGCAGTGCGGGTATGTCTAGGGCCATGCAAGCGATGCTGCCAGTTATGGGCCCTGCCAGGAGCCAGCACGACGCTGCATGCCCCATTCCTGGCAGGAGCCCATGTGCATTCCCACCTGTAGTTTGCATCCCATCTCATGACTGGGGAGTGATGATCTGCATTTTACAGATGAGGAAACTGAGGCTAGGAGAGATTAAGTGATGTGCCCAGTTACTTAGAGTCACATAGCCAGCAGTGGGAGAGGTGGGACTTGAACTCGGCTCAGTCTACCCTGGAGCCACTCCTCTGCTGACCAGGCGTGGGAGTGCTGGACCCTCACTGCCCTGCCGCTTCCTAGGGGACATGTTGCTGCTTTGGGGCCGGCTCACCTGGAGGAAGATGTGCAGGAAGCTGTTGGACATGACTTTCAGCTCCAAGACCAACACGCTGGTGGTGAGGCAGCGCTGCGGGCGGCCAGGAGGTGGGGTGCTGCTGCGGTATGGGAGCCAGCTTGCTCCTGAAACCTTCTACAGAGGTATGGCCAGGCCTTCTCCACCTCCCTTGGGTGCTCCAGTCCTGGCAGGGAGGCTGGGTGGGTGCTGCTGGGGATGGGGCCAGTCCCAGTGGGGCAGTGGGAAGATACGGAGGGAACTGACTGAGATGGAAGGAACTGGGGTTGGCCAGTGTCAGTCTGCACGTGCCAGGGAGGGGTCACAGGATGAATGCTATATCCCTCCTTTTTGGGACCGTGCAGCAAGATGGACGGATGTGGGACATGGTCCACATCCTCAGTCAGTCCCTCAGGCCTCTGCCCCACACCCACCTGCCCCGCCCCCACCCCTCCAGCCTTTCAAGGGCTTTTAGGGTTTTGTGGAAGCCACTGTCCCTCAGCCCTGTTTCAGTGCACTGGTGTAAGCAGACATGCTTGTACATGCATGTGCACCCACAAGCACACCTCAGGCAGAGGATGCCACCTCAGGGACTCCAGCCTTGCCCGTGGCCCCCTCGATATCCTCTGATAGCCCTCTCGGTTGTCCTGGGGGGCTTGCCCTCTCCCAACAGCCCGAGCTGGCCGAAGTTGGCTTCCCTAGCTGGTTCCAGAGGTTCCTCGGCTCCCCCAGGTGTCTGGGGCTTAGTGGCAACAGGGGCTTAGCCTCTGCAGAGACCTAGTGCGCCGCCTCCTTGCCCCAGACCTGCCCGGGCAGAGAGCCGTGTATGTGTCCCAGTGCACAGGCGCTGCTGGGCCCTGCCAAAAGGCCACAAGC
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Task1_train_13446
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Assess the clinical impact of this variant on gene ADAMTS13 (ADAM metallopeptidase with thrombospondin type 1 motif 13), found on Chromosome 9. State whether it’s pathogenic or benign, and the disease if applicable.
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Pathogenic; Upshaw-Schulman syndrome
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AGGGGCTCGCTTCCTGTTGCTGTTACTTGGGTCCATAGGCAACCCCTGGGGTGCTGACAGGTGTTCTGTGATAAAGGCGACTAGAGGGGGATGTGCAATTAGGGAAACAGGGGCCTCTTCCCCCTAGGGCCTTTTGGTAGCTCTCCTGTGGCCGTGAGCCCTGGCCCCAGACAGGAGGGGCTCAGTGGCTGCACTTTCCATCTTGCCTGGCCACGGAAGCTGTCTAGGCAACTGTCCGAGTACACGTGGGTGGAGAGGGGCCTGCGTGGGGCAGTACTGTCTCTGGGGAGACCTAGCCTCTCTCTGGGGTCTTCTCTTCCTGCAGGTGGAAAGTCATGTCCCTTGGCCCATGTTCGGCCAGCTGTGGCCTTGGCACTGCTAGACGCTCGGTGGCCTGTGTGCAGCTCGACCAAGGCCAGGACGTGGAGGTGGACGAGGCGGCCTGTGCGGCGCTGGTGCGGCCCGAGGCCAGTGTCCCCTGTCTCATTGCCGACTGCACCTACCGCTGGCATGTTGGCACCTGGATGGAGGTGAGCACAGCGGGCACTCGGAATCCCTATGGGGCTGGGGTGGGCATCAGCTGTGGCTCCTCATGTGTGAGGGAGTCTAGGAGGCATTGGCTCATCGTGTCCCCTGAAAGGAAGGAGAGAGCTGCGCCCGTTGGTGAGGGGGCACCTAGAGGCAGAGAGACAGAGGGCCTAGAGACCTGCGGGCAGCTAGGACTTAAGAGGCCCTTAGGTTTGGGGACGCTGGAAGATGAATGGCAGGCCACTCAGCTCTACACAGATGAGGGAATGCCAGCTGTGCCACGCACCTGGCAAGGCAGGACAGACAAGGGTAAATGGGGTTCAGGCTGCCCCCTGGAGGGGCTCGCTCATGGTGTGGAGGGGGCATAGGGGCACAGCAGACAGAGATGAGCCGCAGCCCCGCAGACCTGCTTGCTCTAAGGCTTGGAGGGACAGAGAGGCCGTGAGGGTGACAGGGACCCAGACTTGAATTATGGCTCCTCCCACCTATATGACCCATGCAAGGTGCCCTCTCTGAGCCTCAGTTTTCTCATCTGTGGAATGGAGACACTTAACTGCCTCCCAGCTTGTACAAGGATTATATTGGATCACTCCTGGCCTGTGGTTACCACTGTCCTTGTCACCTTCTGGCAGGGTCAGCTGTGACTCCTCCTCCCCTCTCTTGGCAGTGCTCTGTTTCCTGTGGGGATGGCATCCAGCGCCGGCGTGACACCTGCCTCGGACCCCAGGCCCAGGCGCCTGTGCCAGCTGATTTCTGCCAGCACTTGCCCAAGCCGGTGACTGTGCGTGGCTGCTGGGCTGGGCCCTGTGTGGGACAGGGTACGCCCAGCCTGGTGCCCCACGAAGAAGCCGCTGCTCCAGGACGGACCACAGCCACCCCTGCTGGTGCCTCCCTGGAGTGGTCCCAGGCCCGGGGCCTGCTCTTCTCCCCGGCTCCCCAGCCTCGGCGGCTCCTGCCCGGGCCCCAGGAAAACTCAGTGCAGTCCAGTTATGTCCTGTCCTCCTTCCTGTCAGGCAGCTGCTGCAGGAGGGGTGGGCAAAGGCATCTTCCTCTGGGAAGGACTGGCACAAGCACTTGGTCCCTGGGTTGTGTGCCTGGGAGGCCGGGATCAGGGCTGGCCCTCTTTCTCCCTGGCAAAGCAAAACCTCCCTTTTACTACTATCAAGGGGAAGTAACTTGAAGGTAGGAACCCAGCTTGTGAGCCCCCTAGCCTCTGGGCTGCTCTGCATGTGCCCCCTCTTGCTGGATCATCTGGTAGCAGCCCTGTGCCCTGAGGGTGATGCTCTGACCTATGCAGCCCCCCTCCCTGTCCTGAGAAGGCTTCCAGCTGGGCCTTGGAGGACAGGGTCCACCCCTACCTCCTGGTCTCCTTCCTCAGCTTGGAAGCCCCGGAGCCTGCCCTGCTGGGAATCGGGGAAGCACTGCTTACCTGTCTCCTGCTCCCTTTTCAGGTGCCTGTGGCAGGCAGCACCTTGAGCCAACAGGAACCATTGACATGCGAGGCCCAGGGCAGGCAGACTGTGCAGTGGCCATTGGGCGGCCCCTCGGGGAGGTGGTGACCCTCCGCGTCCTTGAGAGTTCTCTCAACTGCAGTGCGGGTATGTCTAGGGCCATGCAAGCGATGCTGCCAGTTATGGGCCCTGCCAGGAGCCAGCACGACGCTGCATGCCCCATTCCTGGCAGGAGCCCATGTGCATTCCCACCTGTAGTTTGCATCCCATCTCATGACTGGGGAGTGATGATCTGCATTTTACAGATGAGGAAACTGAGGCTAGGAGAGATTAAGTGATGTGCCCAGTTACTTAGAGTCACATAGCCAGCAGTGGGAGAGGTGGGACTTGAACTCGGCTCAGTCTACCCTGGAGCCACTCCTCTGCTGACCAGGCGTGGGAGTGCTGGACCCTCACTGCCCTGCCGCTTCCTAGGGGACATGTTGCTGCTTTGGGGCCGGCTCACCTGGAGGAAGATGTGCAGGAAGCTGTTGGACATGACTTTCAGCTCCAAGACCAACACGCTGGTGGTGAGGCAGCGCTGCGGGCGGCCAGGAGGTGGGGTGCTGCTGCGGTATGGGAGCCAGCTTGCTCCTGAAACCTTCTACAGAGGTATGGCCAGGCCTTCTCCACCTCCCTTGGGTGCTCCAGTCCTGGCAGGGAGGCTGGGTGGGTGCTGCTGGGGATGGGGCCAGTCCCAGTGGGGCAGTGGGAAGATACGGAGGGAACTGACTGAGATGGAAGGAACTGGGGTTGGCCAGTGTCAGTCTGCACGTGCCAGGGAGGGGTCACAGGATGAATGCTATATCCCTCCTTTTTGGGACCGTGCAGCAAGATGGACGGATGTGGGACATGGTCCACATCCTCAGTCAGTCCCTCAGGCCTCTGCCCCACACCCACCTGCCCCGCCCCCACCCCTCCAGCCTTTCAAGGGCTTTTAGGGTTTTGTGGAAGCCACTGTCCCTCAGCCCTGTTTCAGTGCACTGGTGTAAGCAGACATGCTTGTACATGCATGTGCACCCACAAGCACACCTCAGGCAGAGGATGCCACCTCAGGGACTCCAGCCTTGCCCGTGGCCCCCTCGATATCCTCTGATAGCCCTCTCGGTTGTCCTGGGGGGCTTGCCCTCTCCCAACAGCCCGAGCTGGCCGAAGTTGGCTTCCCTAGCTGGTTCCAGAGGTTCCTCGGCTCCCCCAGGTGTCTGGGGCTTAGTGGCAACAGGGGCTTAGCCTCTGCAGAGACCTAGTGCGCCGCCTCCTTGCCCCAGACCTGCCCGGGCAGAGAGCCGTGTATGTGTCCCAGTGCACAGGCGCTGCTGGGCCCTGCCAAAAGGCCACAAGCCCACTGTCACCGTTCACATTGCTTCTCGCTTCCCGGCCCAGCCCCGCCCACACAGGCATCTGCCTTGAAAGAGGTGCAGGAGGTACAGGCAGGTGGGGGCTCCAGTGAGCTCTGAGGAACAGCAGTGGCCGCCATGGGTGGAGCCTATCTTTGTTGCCAGTTTCAGTGTTAAACACTCTTGCACGTGTGACATCATTGAGTCCTAAAGACCACTCTGCTCAGTGCATGCCATTGTTTCCTTCAGTTACAGAGGAGGGAACCAGAGCCCAGAACATTTAGCCTTTGCCTAAAGTCACTGGGCCAGGAAGTGGTAGAGGTGGGGTTCAGCAGGATTTGCCTGGGAACCCCAATATTGACCACAGTGCCATGCTGCCCTGCACGGCTCCCTGGCTGTGAGTTGTCCTGGCCTCTGGCACCACCGGTCTGTCTGGGTTCCTATGTCCCTATGTCCCACCTGCAGAATGTGACATGCAGCTCTTTGGGCCCTGGGGTGAAATCGTGAGCCCCTCGCTGAGTCCAGCCACGAGTAATGCAGGGGGCTGCCGGCTCTTCATTAATGTGGCTCCGCACGCACGGATTGCCATCCATGCCCTGGCCACCAACATGGGCGCTGGGACCGAGGGAGCCAATGCCAGCTACATCTTGGTGAGGCCCAGCATGGGGACTTGTGCTGTGATTCTGGACAGCTTTCCCTAGGGCGTGCAGGGCTAGGGGACCCCCTTCAGTTTATTTCAGA
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AGGGGCTCGCTTCCTGTTGCTGTTACTTGGGTCCATAGGCAACCCCTGGGGTGCTGACAGGTGTTCTGTGATAAAGGCGACTAGAGGGGGATGTGCAATTAGGGAAACAGGGGCCTCTTCCCCCTAGGGCCTTTTGGTAGCTCTCCTGTGGCCGTGAGCCCTGGCCCCAGACAGGAGGGGCTCAGTGGCTGCACTTTCCATCTTGCCTGGCCACGGAAGCTGTCTAGGCAACTGTCCGAGTACACGTGGGTGGAGAGGGGCCTGCGTGGGGCAGTACTGTCTCTGGGGAGACCTAGCCTCTCTCTGGGGTCTTCTCTTCCTGCAGGTGGAAAGTCATGTCCCTTGGCCCATGTTCGGCCAGCTGTGGCCTTGGCACTGCTAGACGCTCGGTGGCCTGTGTGCAGCTCGACCAAGGCCAGGACGTGGAGGTGGACGAGGCGGCCTGTGCGGCGCTGGTGCGGCCCGAGGCCAGTGTCCCCTGTCTCATTGCCGACTGCACCTACCGCTGGCATGTTGGCACCTGGATGGAGGTGAGCACAGCGGGCACTCGGAATCCCTATGGGGCTGGGGTGGGCATCAGCTGTGGCTCCTCATGTGTGAGGGAGTCTAGGAGGCATTGGCTCATCGTGTCCCCTGAAAGGAAGGAGAGAGCTGCGCCCGTTGGTGAGGGGGCACCTAGAGGCAGAGAGACAGAGGGCCTAGAGACCTGCGGGCAGCTAGGACTTAAGAGGCCCTTAGGTTTGGGGACGCTGGAAGATGAATGGCAGGCCACTCAGCTCTACACAGATGAGGGAATGCCAGCTGTGCCACGCACCTGGCAAGGCAGGACAGACAAGGGTAAATGGGGTTCAGGCTGCCCCCTGGAGGGGCTCGCTCATGGTGTGGAGGGGGCATAGGGGCACAGCAGACAGAGATGAGCCGCAGCCCCGCAGACCTGCTTGCTCTAAGGCTTGGAGGGACAGAGAGGCCGTGAGGGTGACAGGGACCCAGACTTGAATTATGGCTCCTCCCACCTATATGACCCATGCAAGGTGCCCTCTCTGAGCCTCAGTTTTCTCATCTGTGGAATGGAGACACTTAACTGCCTCCCAGCTTGTACAAGGATTATATTGGATCACTCCTGGCCTGTGGTTACCACTGTCCTTGTCACCTTCTGGCAGGGTCAGCTGTGACTCCTCCTCCCCTCTCTTGGCAGTGCTCTGTTTCCTGTGGGGATGGCATCCAGCGCCGGCGTGACACCTGCCTCGGACCCCAGGCCCAGGCGCCTGTGCCAGCTGATTTCTGCCAGCACTTGCCCAAGCCGGTGACTGTGCGTGGCTGCTGGGCTGGGCCCTGTGTGGGACAGGGTACGCCCAGCCTGGTGCCCCACGAAGAAGCCGCTGCTCCAGGACGGACCACAGCCACCCCTGCTGGTGCCTCCCTGGAGTGGTCCCAGGCCCGGGGCCTGCTCTTCTCCCCGGCTCCCCAGCCTCGGCGGCTCCTGCCCGGGCCCCAGGAAAACTCAGTGCAGTCCAGTTATGTCCTGTCCTCCTTCCTGTCAGGCAGCTGCTGCAGGAGGGGTGGGCAAAGGCATCTTCCTCTGGGAAGGACTGGCACAAGCACTTGGTCCCTGGGTTGTGTGCCTGGGAGGCCGGGATCAGGGCTGGCCCTCTTTCTCCCTGGCAAAGCAAAACCTCCCTTTTACTACTATCAAGGGGAAGTAACTTGAAGGTAGGAACCCAGCTTGTGAGCCCCCTAGCCTCTGGGCTGCTCTGCATGTGCCCCCTCTTGCTGGATCATCTGGTAGCAGCCCTGTGCCCTGAGGGTGATGCTCTGACCTATGCAGCCCCCCTCCCTGTCCTGAGAAGGCTTCCAGCTGGGCCTTGGAGGACAGGGTCCACCCCTACCTCCTGGTCTCCTTCCTCAGCTTGGAAGCCCCGGAGCCTGCCCTGCTGGGAATCGGGGAAGCACTGCTTACCTGTCTCCTGCTCCCTTTTCAGGTGCCTGTGGCAGGCAGCACCTTGAGCCAACAGGAACCATTGACATGCGAGGCCCAGGGCAGGCAGACTATGCAGTGGCCATTGGGCGGCCCCTCGGGGAGGTGGTGACCCTCCGCGTCCTTGAGAGTTCTCTCAACTGCAGTGCGGGTATGTCTAGGGCCATGCAAGCGATGCTGCCAGTTATGGGCCCTGCCAGGAGCCAGCACGACGCTGCATGCCCCATTCCTGGCAGGAGCCCATGTGCATTCCCACCTGTAGTTTGCATCCCATCTCATGACTGGGGAGTGATGATCTGCATTTTACAGATGAGGAAACTGAGGCTAGGAGAGATTAAGTGATGTGCCCAGTTACTTAGAGTCACATAGCCAGCAGTGGGAGAGGTGGGACTTGAACTCGGCTCAGTCTACCCTGGAGCCACTCCTCTGCTGACCAGGCGTGGGAGTGCTGGACCCTCACTGCCCTGCCGCTTCCTAGGGGACATGTTGCTGCTTTGGGGCCGGCTCACCTGGAGGAAGATGTGCAGGAAGCTGTTGGACATGACTTTCAGCTCCAAGACCAACACGCTGGTGGTGAGGCAGCGCTGCGGGCGGCCAGGAGGTGGGGTGCTGCTGCGGTATGGGAGCCAGCTTGCTCCTGAAACCTTCTACAGAGGTATGGCCAGGCCTTCTCCACCTCCCTTGGGTGCTCCAGTCCTGGCAGGGAGGCTGGGTGGGTGCTGCTGGGGATGGGGCCAGTCCCAGTGGGGCAGTGGGAAGATACGGAGGGAACTGACTGAGATGGAAGGAACTGGGGTTGGCCAGTGTCAGTCTGCACGTGCCAGGGAGGGGTCACAGGATGAATGCTATATCCCTCCTTTTTGGGACCGTGCAGCAAGATGGACGGATGTGGGACATGGTCCACATCCTCAGTCAGTCCCTCAGGCCTCTGCCCCACACCCACCTGCCCCGCCCCCACCCCTCCAGCCTTTCAAGGGCTTTTAGGGTTTTGTGGAAGCCACTGTCCCTCAGCCCTGTTTCAGTGCACTGGTGTAAGCAGACATGCTTGTACATGCATGTGCACCCACAAGCACACCTCAGGCAGAGGATGCCACCTCAGGGACTCCAGCCTTGCCCGTGGCCCCCTCGATATCCTCTGATAGCCCTCTCGGTTGTCCTGGGGGGCTTGCCCTCTCCCAACAGCCCGAGCTGGCCGAAGTTGGCTTCCCTAGCTGGTTCCAGAGGTTCCTCGGCTCCCCCAGGTGTCTGGGGCTTAGTGGCAACAGGGGCTTAGCCTCTGCAGAGACCTAGTGCGCCGCCTCCTTGCCCCAGACCTGCCCGGGCAGAGAGCCGTGTATGTGTCCCAGTGCACAGGCGCTGCTGGGCCCTGCCAAAAGGCCACAAGCCCACTGTCACCGTTCACATTGCTTCTCGCTTCCCGGCCCAGCCCCGCCCACACAGGCATCTGCCTTGAAAGAGGTGCAGGAGGTACAGGCAGGTGGGGGCTCCAGTGAGCTCTGAGGAACAGCAGTGGCCGCCATGGGTGGAGCCTATCTTTGTTGCCAGTTTCAGTGTTAAACACTCTTGCACGTGTGACATCATTGAGTCCTAAAGACCACTCTGCTCAGTGCATGCCATTGTTTCCTTCAGTTACAGAGGAGGGAACCAGAGCCCAGAACATTTAGCCTTTGCCTAAAGTCACTGGGCCAGGAAGTGGTAGAGGTGGGGTTCAGCAGGATTTGCCTGGGAACCCCAATATTGACCACAGTGCCATGCTGCCCTGCACGGCTCCCTGGCTGTGAGTTGTCCTGGCCTCTGGCACCACCGGTCTGTCTGGGTTCCTATGTCCCTATGTCCCACCTGCAGAATGTGACATGCAGCTCTTTGGGCCCTGGGGTGAAATCGTGAGCCCCTCGCTGAGTCCAGCCACGAGTAATGCAGGGGGCTGCCGGCTCTTCATTAATGTGGCTCCGCACGCACGGATTGCCATCCATGCCCTGGCCACCAACATGGGCGCTGGGACCGAGGGAGCCAATGCCAGCTACATCTTGGTGAGGCCCAGCATGGGGACTTGTGCTGTGATTCTGGACAGCTTTCCCTAGGGCGTGCAGGGCTAGGGGACCCCCTTCAGTTTATTTCAGA
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Task1_train_13447
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This genomic variant is located on Chromosome 9, within the ADAMTS13 (ADAM metallopeptidase with thrombospondin type 1 motif 13) gene. Can you determine its pathogenicity and name any linked disease?
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Pathogenic; Upshaw-Schulman syndrome
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CCTGTTGCTGTTACTTGGGTCCATAGGCAACCCCTGGGGTGCTGACAGGTGTTCTGTGATAAAGGCGACTAGAGGGGGATGTGCAATTAGGGAAACAGGGGCCTCTTCCCCCTAGGGCCTTTTGGTAGCTCTCCTGTGGCCGTGAGCCCTGGCCCCAGACAGGAGGGGCTCAGTGGCTGCACTTTCCATCTTGCCTGGCCACGGAAGCTGTCTAGGCAACTGTCCGAGTACACGTGGGTGGAGAGGGGCCTGCGTGGGGCAGTACTGTCTCTGGGGAGACCTAGCCTCTCTCTGGGGTCTTCTCTTCCTGCAGGTGGAAAGTCATGTCCCTTGGCCCATGTTCGGCCAGCTGTGGCCTTGGCACTGCTAGACGCTCGGTGGCCTGTGTGCAGCTCGACCAAGGCCAGGACGTGGAGGTGGACGAGGCGGCCTGTGCGGCGCTGGTGCGGCCCGAGGCCAGTGTCCCCTGTCTCATTGCCGACTGCACCTACCGCTGGCATGTTGGCACCTGGATGGAGGTGAGCACAGCGGGCACTCGGAATCCCTATGGGGCTGGGGTGGGCATCAGCTGTGGCTCCTCATGTGTGAGGGAGTCTAGGAGGCATTGGCTCATCGTGTCCCCTGAAAGGAAGGAGAGAGCTGCGCCCGTTGGTGAGGGGGCACCTAGAGGCAGAGAGACAGAGGGCCTAGAGACCTGCGGGCAGCTAGGACTTAAGAGGCCCTTAGGTTTGGGGACGCTGGAAGATGAATGGCAGGCCACTCAGCTCTACACAGATGAGGGAATGCCAGCTGTGCCACGCACCTGGCAAGGCAGGACAGACAAGGGTAAATGGGGTTCAGGCTGCCCCCTGGAGGGGCTCGCTCATGGTGTGGAGGGGGCATAGGGGCACAGCAGACAGAGATGAGCCGCAGCCCCGCAGACCTGCTTGCTCTAAGGCTTGGAGGGACAGAGAGGCCGTGAGGGTGACAGGGACCCAGACTTGAATTATGGCTCCTCCCACCTATATGACCCATGCAAGGTGCCCTCTCTGAGCCTCAGTTTTCTCATCTGTGGAATGGAGACACTTAACTGCCTCCCAGCTTGTACAAGGATTATATTGGATCACTCCTGGCCTGTGGTTACCACTGTCCTTGTCACCTTCTGGCAGGGTCAGCTGTGACTCCTCCTCCCCTCTCTTGGCAGTGCTCTGTTTCCTGTGGGGATGGCATCCAGCGCCGGCGTGACACCTGCCTCGGACCCCAGGCCCAGGCGCCTGTGCCAGCTGATTTCTGCCAGCACTTGCCCAAGCCGGTGACTGTGCGTGGCTGCTGGGCTGGGCCCTGTGTGGGACAGGGTACGCCCAGCCTGGTGCCCCACGAAGAAGCCGCTGCTCCAGGACGGACCACAGCCACCCCTGCTGGTGCCTCCCTGGAGTGGTCCCAGGCCCGGGGCCTGCTCTTCTCCCCGGCTCCCCAGCCTCGGCGGCTCCTGCCCGGGCCCCAGGAAAACTCAGTGCAGTCCAGTTATGTCCTGTCCTCCTTCCTGTCAGGCAGCTGCTGCAGGAGGGGTGGGCAAAGGCATCTTCCTCTGGGAAGGACTGGCACAAGCACTTGGTCCCTGGGTTGTGTGCCTGGGAGGCCGGGATCAGGGCTGGCCCTCTTTCTCCCTGGCAAAGCAAAACCTCCCTTTTACTACTATCAAGGGGAAGTAACTTGAAGGTAGGAACCCAGCTTGTGAGCCCCCTAGCCTCTGGGCTGCTCTGCATGTGCCCCCTCTTGCTGGATCATCTGGTAGCAGCCCTGTGCCCTGAGGGTGATGCTCTGACCTATGCAGCCCCCCTCCCTGTCCTGAGAAGGCTTCCAGCTGGGCCTTGGAGGACAGGGTCCACCCCTACCTCCTGGTCTCCTTCCTCAGCTTGGAAGCCCCGGAGCCTGCCCTGCTGGGAATCGGGGAAGCACTGCTTACCTGTCTCCTGCTCCCTTTTCAGGTGCCTGTGGCAGGCAGCACCTTGAGCCAACAGGAACCATTGACATGCGAGGCCCAGGGCAGGCAGACTGTGCAGTGGCCATTGGGCGGCCCCTCGGGGAGGTGGTGACCCTCCGCGTCCTTGAGAGTTCTCTCAACTGCAGTGCGGGTATGTCTAGGGCCATGCAAGCGATGCTGCCAGTTATGGGCCCTGCCAGGAGCCAGCACGACGCTGCATGCCCCATTCCTGGCAGGAGCCCATGTGCATTCCCACCTGTAGTTTGCATCCCATCTCATGACTGGGGAGTGATGATCTGCATTTTACAGATGAGGAAACTGAGGCTAGGAGAGATTAAGTGATGTGCCCAGTTACTTAGAGTCACATAGCCAGCAGTGGGAGAGGTGGGACTTGAACTCGGCTCAGTCTACCCTGGAGCCACTCCTCTGCTGACCAGGCGTGGGAGTGCTGGACCCTCACTGCCCTGCCGCTTCCTAGGGGACATGTTGCTGCTTTGGGGCCGGCTCACCTGGAGGAAGATGTGCAGGAAGCTGTTGGACATGACTTTCAGCTCCAAGACCAACACGCTGGTGGTGAGGCAGCGCTGCGGGCGGCCAGGAGGTGGGGTGCTGCTGCGGTATGGGAGCCAGCTTGCTCCTGAAACCTTCTACAGAGGTATGGCCAGGCCTTCTCCACCTCCCTTGGGTGCTCCAGTCCTGGCAGGGAGGCTGGGTGGGTGCTGCTGGGGATGGGGCCAGTCCCAGTGGGGCAGTGGGAAGATACGGAGGGAACTGACTGAGATGGAAGGAACTGGGGTTGGCCAGTGTCAGTCTGCACGTGCCAGGGAGGGGTCACAGGATGAATGCTATATCCCTCCTTTTTGGGACCGTGCAGCAAGATGGACGGATGTGGGACATGGTCCACATCCTCAGTCAGTCCCTCAGGCCTCTGCCCCACACCCACCTGCCCCGCCCCCACCCCTCCAGCCTTTCAAGGGCTTTTAGGGTTTTGTGGAAGCCACTGTCCCTCAGCCCTGTTTCAGTGCACTGGTGTAAGCAGACATGCTTGTACATGCATGTGCACCCACAAGCACACCTCAGGCAGAGGATGCCACCTCAGGGACTCCAGCCTTGCCCGTGGCCCCCTCGATATCCTCTGATAGCCCTCTCGGTTGTCCTGGGGGGCTTGCCCTCTCCCAACAGCCCGAGCTGGCCGAAGTTGGCTTCCCTAGCTGGTTCCAGAGGTTCCTCGGCTCCCCCAGGTGTCTGGGGCTTAGTGGCAACAGGGGCTTAGCCTCTGCAGAGACCTAGTGCGCCGCCTCCTTGCCCCAGACCTGCCCGGGCAGAGAGCCGTGTATGTGTCCCAGTGCACAGGCGCTGCTGGGCCCTGCCAAAAGGCCACAAGCCCACTGTCACCGTTCACATTGCTTCTCGCTTCCCGGCCCAGCCCCGCCCACACAGGCATCTGCCTTGAAAGAGGTGCAGGAGGTACAGGCAGGTGGGGGCTCCAGTGAGCTCTGAGGAACAGCAGTGGCCGCCATGGGTGGAGCCTATCTTTGTTGCCAGTTTCAGTGTTAAACACTCTTGCACGTGTGACATCATTGAGTCCTAAAGACCACTCTGCTCAGTGCATGCCATTGTTTCCTTCAGTTACAGAGGAGGGAACCAGAGCCCAGAACATTTAGCCTTTGCCTAAAGTCACTGGGCCAGGAAGTGGTAGAGGTGGGGTTCAGCAGGATTTGCCTGGGAACCCCAATATTGACCACAGTGCCATGCTGCCCTGCACGGCTCCCTGGCTGTGAGTTGTCCTGGCCTCTGGCACCACCGGTCTGTCTGGGTTCCTATGTCCCTATGTCCCACCTGCAGAATGTGACATGCAGCTCTTTGGGCCCTGGGGTGAAATCGTGAGCCCCTCGCTGAGTCCAGCCACGAGTAATGCAGGGGGCTGCCGGCTCTTCATTAATGTGGCTCCGCACGCACGGATTGCCATCCATGCCCTGGCCACCAACATGGGCGCTGGGACCGAGGGAGCCAATGCCAGCTACATCTTGGTGAGGCCCAGCATGGGGACTTGTGCTGTGATTCTGGACAGCTTTCCCTAGGGCGTGCAGGGCTAGGGGACCCCCTTCAGTTTATTTCAGACTAAAACCCTCA
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CCTGTTGCTGTTACTTGGGTCCATAGGCAACCCCTGGGGTGCTGACAGGTGTTCTGTGATAAAGGCGACTAGAGGGGGATGTGCAATTAGGGAAACAGGGGCCTCTTCCCCCTAGGGCCTTTTGGTAGCTCTCCTGTGGCCGTGAGCCCTGGCCCCAGACAGGAGGGGCTCAGTGGCTGCACTTTCCATCTTGCCTGGCCACGGAAGCTGTCTAGGCAACTGTCCGAGTACACGTGGGTGGAGAGGGGCCTGCGTGGGGCAGTACTGTCTCTGGGGAGACCTAGCCTCTCTCTGGGGTCTTCTCTTCCTGCAGGTGGAAAGTCATGTCCCTTGGCCCATGTTCGGCCAGCTGTGGCCTTGGCACTGCTAGACGCTCGGTGGCCTGTGTGCAGCTCGACCAAGGCCAGGACGTGGAGGTGGACGAGGCGGCCTGTGCGGCGCTGGTGCGGCCCGAGGCCAGTGTCCCCTGTCTCATTGCCGACTGCACCTACCGCTGGCATGTTGGCACCTGGATGGAGGTGAGCACAGCGGGCACTCGGAATCCCTATGGGGCTGGGGTGGGCATCAGCTGTGGCTCCTCATGTGTGAGGGAGTCTAGGAGGCATTGGCTCATCGTGTCCCCTGAAAGGAAGGAGAGAGCTGCGCCCGTTGGTGAGGGGGCACCTAGAGGCAGAGAGACAGAGGGCCTAGAGACCTGCGGGCAGCTAGGACTTAAGAGGCCCTTAGGTTTGGGGACGCTGGAAGATGAATGGCAGGCCACTCAGCTCTACACAGATGAGGGAATGCCAGCTGTGCCACGCACCTGGCAAGGCAGGACAGACAAGGGTAAATGGGGTTCAGGCTGCCCCCTGGAGGGGCTCGCTCATGGTGTGGAGGGGGCATAGGGGCACAGCAGACAGAGATGAGCCGCAGCCCCGCAGACCTGCTTGCTCTAAGGCTTGGAGGGACAGAGAGGCCGTGAGGGTGACAGGGACCCAGACTTGAATTATGGCTCCTCCCACCTATATGACCCATGCAAGGTGCCCTCTCTGAGCCTCAGTTTTCTCATCTGTGGAATGGAGACACTTAACTGCCTCCCAGCTTGTACAAGGATTATATTGGATCACTCCTGGCCTGTGGTTACCACTGTCCTTGTCACCTTCTGGCAGGGTCAGCTGTGACTCCTCCTCCCCTCTCTTGGCAGTGCTCTGTTTCCTGTGGGGATGGCATCCAGCGCCGGCGTGACACCTGCCTCGGACCCCAGGCCCAGGCGCCTGTGCCAGCTGATTTCTGCCAGCACTTGCCCAAGCCGGTGACTGTGCGTGGCTGCTGGGCTGGGCCCTGTGTGGGACAGGGTACGCCCAGCCTGGTGCCCCACGAAGAAGCCGCTGCTCCAGGACGGACCACAGCCACCCCTGCTGGTGCCTCCCTGGAGTGGTCCCAGGCCCGGGGCCTGCTCTTCTCCCCGGCTCCCCAGCCTCGGCGGCTCCTGCCCGGGCCCCAGGAAAACTCAGTGCAGTCCAGTTATGTCCTGTCCTCCTTCCTGTCAGGCAGCTGCTGCAGGAGGGGTGGGCAAAGGCATCTTCCTCTGGGAAGGACTGGCACAAGCACTTGGTCCCTGGGTTGTGTGCCTGGGAGGCCGGGATCAGGGCTGGCCCTCTTTCTCCCTGGCAAAGCAAAACCTCCCTTTTACTACTATCAAGGGGAAGTAACTTGAAGGTAGGAACCCAGCTTGTGAGCCCCCTAGCCTCTGGGCTGCTCTGCATGTGCCCCCTCTTGCTGGATCATCTGGTAGCAGCCCTGTGCCCTGAGGGTGATGCTCTGACCTATGCAGCCCCCCTCCCTGTCCTGAGAAGGCTTCCAGCTGGGCCTTGGAGGACAGGGTCCACCCCTACCTCCTGGTCTCCTTCCTCAGCTTGGAAGCCCCGGAGCCTGCCCTGCTGGGAATCGGGGAAGCACTGCTTACCTGTCTCCTGCTCCCTTTTCAGGTGCCTGTGGCAGGCAGCACCTTGAGCCAACAGGAACCATTGACATGCGAGGCCCAGGGCAGGCAGACTGTGCAGTGGCCACTGGGCGGCCCCTCGGGGAGGTGGTGACCCTCCGCGTCCTTGAGAGTTCTCTCAACTGCAGTGCGGGTATGTCTAGGGCCATGCAAGCGATGCTGCCAGTTATGGGCCCTGCCAGGAGCCAGCACGACGCTGCATGCCCCATTCCTGGCAGGAGCCCATGTGCATTCCCACCTGTAGTTTGCATCCCATCTCATGACTGGGGAGTGATGATCTGCATTTTACAGATGAGGAAACTGAGGCTAGGAGAGATTAAGTGATGTGCCCAGTTACTTAGAGTCACATAGCCAGCAGTGGGAGAGGTGGGACTTGAACTCGGCTCAGTCTACCCTGGAGCCACTCCTCTGCTGACCAGGCGTGGGAGTGCTGGACCCTCACTGCCCTGCCGCTTCCTAGGGGACATGTTGCTGCTTTGGGGCCGGCTCACCTGGAGGAAGATGTGCAGGAAGCTGTTGGACATGACTTTCAGCTCCAAGACCAACACGCTGGTGGTGAGGCAGCGCTGCGGGCGGCCAGGAGGTGGGGTGCTGCTGCGGTATGGGAGCCAGCTTGCTCCTGAAACCTTCTACAGAGGTATGGCCAGGCCTTCTCCACCTCCCTTGGGTGCTCCAGTCCTGGCAGGGAGGCTGGGTGGGTGCTGCTGGGGATGGGGCCAGTCCCAGTGGGGCAGTGGGAAGATACGGAGGGAACTGACTGAGATGGAAGGAACTGGGGTTGGCCAGTGTCAGTCTGCACGTGCCAGGGAGGGGTCACAGGATGAATGCTATATCCCTCCTTTTTGGGACCGTGCAGCAAGATGGACGGATGTGGGACATGGTCCACATCCTCAGTCAGTCCCTCAGGCCTCTGCCCCACACCCACCTGCCCCGCCCCCACCCCTCCAGCCTTTCAAGGGCTTTTAGGGTTTTGTGGAAGCCACTGTCCCTCAGCCCTGTTTCAGTGCACTGGTGTAAGCAGACATGCTTGTACATGCATGTGCACCCACAAGCACACCTCAGGCAGAGGATGCCACCTCAGGGACTCCAGCCTTGCCCGTGGCCCCCTCGATATCCTCTGATAGCCCTCTCGGTTGTCCTGGGGGGCTTGCCCTCTCCCAACAGCCCGAGCTGGCCGAAGTTGGCTTCCCTAGCTGGTTCCAGAGGTTCCTCGGCTCCCCCAGGTGTCTGGGGCTTAGTGGCAACAGGGGCTTAGCCTCTGCAGAGACCTAGTGCGCCGCCTCCTTGCCCCAGACCTGCCCGGGCAGAGAGCCGTGTATGTGTCCCAGTGCACAGGCGCTGCTGGGCCCTGCCAAAAGGCCACAAGCCCACTGTCACCGTTCACATTGCTTCTCGCTTCCCGGCCCAGCCCCGCCCACACAGGCATCTGCCTTGAAAGAGGTGCAGGAGGTACAGGCAGGTGGGGGCTCCAGTGAGCTCTGAGGAACAGCAGTGGCCGCCATGGGTGGAGCCTATCTTTGTTGCCAGTTTCAGTGTTAAACACTCTTGCACGTGTGACATCATTGAGTCCTAAAGACCACTCTGCTCAGTGCATGCCATTGTTTCCTTCAGTTACAGAGGAGGGAACCAGAGCCCAGAACATTTAGCCTTTGCCTAAAGTCACTGGGCCAGGAAGTGGTAGAGGTGGGGTTCAGCAGGATTTGCCTGGGAACCCCAATATTGACCACAGTGCCATGCTGCCCTGCACGGCTCCCTGGCTGTGAGTTGTCCTGGCCTCTGGCACCACCGGTCTGTCTGGGTTCCTATGTCCCTATGTCCCACCTGCAGAATGTGACATGCAGCTCTTTGGGCCCTGGGGTGAAATCGTGAGCCCCTCGCTGAGTCCAGCCACGAGTAATGCAGGGGGCTGCCGGCTCTTCATTAATGTGGCTCCGCACGCACGGATTGCCATCCATGCCCTGGCCACCAACATGGGCGCTGGGACCGAGGGAGCCAATGCCAGCTACATCTTGGTGAGGCCCAGCATGGGGACTTGTGCTGTGATTCTGGACAGCTTTCCCTAGGGCGTGCAGGGCTAGGGGACCCCCTTCAGTTTATTTCAGACTAAAACCCTCA
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Task1_train_13448
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Here’s a variant in MYMK (myomaker, myoblast fusion factor) located on Chromosome 9. What is the predicted biological effect — harmless or disease-causing?
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Pathogenic; Congenital nonprogressive myopathy with Moebius and Robin sequences
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CAGGTGGACTGGAAGCGTACAGAGGCAGTGCCATGCCTGTCCCTCAACCCCAGGTCAGGGCTTAGAAGTTGGGTGTCTTCAGCCCTATGATGGGGACACGTAGGACATGTTCCAGTTCCCCTGCTGGGTGGATGGGCTTGGAGCCCTGGATGCTGGAGCCTTGGCTTGCTCATACCCTGAGAGCTGGGGAGAGGGCGCCAGCCTTGGGCTGCTCTGCATTCAAAGACTCCGGGGCCAGGAAAGGGCTGAGCTTGGCTGTCCTCTATGCCTGCCCTTCAAGGCCAGGAGGGACGCCAGGTGAGGAAGGGGCAGGCCAGGGCCCCTGAGACTTGGGGGATGCCAGGCCATCAGGGAGGGCAGCAGATGGGGCCACCAGGCCAGGGTGTCAGAGCGACCGTATGGGGGAGGGGCCTAGAGGGCCACCCTGTCCCCAGCCCAGGAGCGGAGCCAGCTATCTCCCAGCCCTGGAGGCAACAGGGGGTGACTCTAGGACAAATAACCGCCCTCTTTCCATGGGCAGTGGACCTGGGCAACCACTCCCAAGCCGGTGGCACCGTCTGGAAACACAAACAGGCCCCAGACAGGTGTAGGTAACTTCCTGCCTGACAGATGGGCCTGGAATCGCTGGGTGCCGGGGGACGCAGGTTGTGAGGTGATGTCTGGGACCTGCTGCCACCACCCCCGCAGTCCTTCACAGACAGCACCGCCCATCACGCAGCAGGGAGGCCCAGCCGAGGGAGCCCGGCATTTGGGCCCTGCAGCCTCTGCTCACGGGCACTGCACCCAAACCCATCACCTTTCCACGCTGGGGACGGCGTGCAGGGCTAAAAGCCAGCATGCGGGTGCTGAGGGCCAGAAGCGGAGCTCACACCTCCCACACCAACCACTCTAGAGGGGCAGCCCCCGCTCTGGGCCCTGAACAAGCGGCTGGGGTGGGAGGGATGACGCTTGGCTGAGTCTTGTTTTAAGGGTTAGGACGTATATAAAGTGTCTGGGGTGCAGTGAGGTTGATACATTGAGGCACTTCTTATTGGTTATAATGAAAACTGCTTGATTCAGGGACCCAGCGGGAGGGGTGGGGCCAGAGTGGGCTGGGCCAGGGATCCAGCTGGCCCCGCTGGCCCCAGCTTCCTAAATGGGGTCGCTCGGAGCCTGAGGACACAGGACAGAGATGGTGATAGCAGTTTCCAGGAGAAAACTGAAGACATGGAAGCCCCCCCTGTCATGGCTGGCACCCGGCTGGGACTCCTGGGCTCCTGGCCAGCAGTGGGGTGGGCAGACGCCAGACCTAGGGCTCCACCAGACATGCCAGTGGGTTGTGACAAGGCCTGGGAGGAGAACATTCTTATCTTTCCAGCTTGGTCCTGCGCACCCCGTCACAAGGGAATAAGCAGTTTCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGCGATCTCGGCTCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCGCCCGCTACCACGCCCGGCTAATTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCGTGTTAGCCAGGATGGTCTCGATCTCCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCGGCAAGCAGTTTCTTAAGAAGCATTTAGTGCAGCATGGTGGGCCCTTCACAGACCCCCGGGAACCTCTCAGGGTGTGGAAGAGATGTTTCTCCTGGATGCTCCAGGGCAGGGAAGGACAGCAGGAGCTGCAGGAGGAGAAACTGTCTGGGACTCTGGCCAAGTGTGAGCTGGGGAGGGCAGGGGCTCAGAGCCGGGCTGGGCGCAGCATCAGACACAAGCACAGCACAGGGTGGAGCAGTCCAGCTTGGCCGGGGTCCCCGGGGATCCAGCCTTCTTGTTGACCTTGGGCAGCAGCAGAACAAAGGACATAGCCAGGGCACAGTGGTAGAAGCTGTGGACATAAGTGTAGTCCCAGTCCTGCGGGGGGCAAGCGGTCAGTCTGGGGCCTCAGCCCCCTCCCCGAGGCTCCTCCCTCTCCAAGACCCAGCAGAGCCCCTTCAGGCCCCCGCCTCTGCCAGGGCACTGGGACACCTGCAGGAAGCCTCCCCCACGGTCGCGCTCACAGTGGTTTTTCTCTCCACCTAAACCCAGAGCAGTGAGGGCCTGTGCCATCCTCCAGGCTGCACTCCTTCCTTCTTCCCCATCCCCTCTCTCTGCTGTCCTTCTCTTCCTCCATCCTTCTCTCCCTCCTACCCTCCCTCCCTCCATCTCCCCCTCTTTTCTCTCCTTATCCCTCTTCCCCTGTTCCTCCCTCCCTCCTCCACTTTCTCCCTCCTTCCTTCCCTGTCTCCTCCCCTCCCTCCCTCCCTCCTCCAGGTGTTGGGCACCTGCCCCAGGCGTCTCCCAGGCTGTGCTGCCGTCTGAGATGCCAGCTGTCTGTAGGCAGCCAGCTTTGGTCTCTGTGACCTCCAGGTCCACACAGGCCATGGTGCTGGTGGTGCTGGGGACGGCATTGCCCCCGACATAGCCCTGGGAGGGGCTAGTGAGCAGGGACTAATACCAGACTTTGGCCTGGGGCTGTCAGAGTCCCCCCAGCGTGGGCACAGCCCTGGTATCCCAGCTGAGCAGAGCCATGCCGAGTGGGCTCTGGGGCACAGGACACCTCCCCGCTGGGCTTGGTACCTCAAAGAAGAAGCGTAGCATCAGGGCCAGCGCCCCGAAGCAGAGGCCGGGGCCTATCTGCTGGGTGTAGACGCTCTTGTCTGGGTACAGGCCCTTCTTCTCCTTCATCTTCTGTAGCTGTGAGGACAGGAGGCCACAGCAAAGCTTTTAGGTCACAGCACTGGGGAACGCCCCTCCCCAAACCAGCCCGAGAGCTGGCCCTGCACAGGCTCACCCCAGCCCTCTCCCGGCAGGAGAGGAGGCTCAGGAGCCTCCTGCCGCACCCAGCCTCAGATGGCTTCTGCTGGACAGGGCCCTTCACGGTGCGACCCAGCAGAGACCCCAGCCTGGATGGCTGGGAAGGAAGCCACTGGGCCATGTGCCCCACAAAGACCCCGCTGCCCTCCCGCCTCTTTGAGATGTAACAACGCCACCCTCGCATGTCTCCTCCTCCCTGGAGGGGAGCTCTGGGGGGACTAGACTCCATGATTGCTTACCAAGGAAAGTACTGGAGTACTTGGGACCTGCCAGCCCAGTGTGGCCCATGGGGATGGCACTTGTGGTGATCCCTGAGCCATGGACAAGCATCGTTTGCTTTCCTAGTTAAAGGACCTATCTCACTCTTCATTAGACAAACTTGGCCAGCACTGCTTCTCAGGTCCCAGTGCTTAGGAAGGCTCGCGTGGGCGTTTCCACTTACAGAGGGGTTTGCATTCCGAGGAAGATGCGGGAAGTGTGGGGCCACATCCCTGGAGCCGGCCTTGTGTTTTCTAGGCCACTTCACATGGAGTCTATTTGGGATTTTCAAGGGCAGTTGTTTCCTGGAATGAGGGTGGATTTTTCTCCCTGAGCCTGGTCCCCTCTTGGGAGGGGCTGGGGAACGACAGCCTTGTTGGGGAGGAAGGAGGGAGGGTTGGGTGATGGCGGCCTCGGAGTGGGGCCAGACCCGTGGGGGTACACTCAGGAGGCTATAGATTTCAGTGGAATCAACTGTTAGACACACAGCGTGTGGCACAAGCCCCTGGGGGTGGGGGCAGCACCCCATAACTGCACCCATTGCTGAGTGGCCTATGCAAAGAGCACAAAGAGCCTTATGCTGGGTCAGGTCAGGTTTTGCCACCCAGTGAATTATGAATTGATGCCCGGCTTTCCATTTTCTGGAATTCCATTGCCAACAAGGAATTGAGCACCTGCAGTCCTGCAGTGGCCTGAAGACAGCTGGACCGTGTGACCCTGGGTGCGGTGGTCAAGGCTGCCAGCCCACCTCTGGCCAGCCCTGCAGTAGTAACACCAGGGAGAAGAGAGGTGCCTGCCCCAGGTCACACAG
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CAGGTGGACTGGAAGCGTACAGAGGCAGTGCCATGCCTGTCCCTCAACCCCAGGTCAGGGCTTAGAAGTTGGGTGTCTTCAGCCCTATGATGGGGACACGTAGGACATGTTCCAGTTCCCCTGCTGGGTGGATGGGCTTGGAGCCCTGGATGCTGGAGCCTTGGCTTGCTCATACCCTGAGAGCTGGGGAGAGGGCGCCAGCCTTGGGCTGCTCTGCATTCAAAGACTCCGGGGCCAGGAAAGGGCTGAGCTTGGCTGTCCTCTATGCCTGCCCTTCAAGGCCAGGAGGGACGCCAGGTGAGGAAGGGGCAGGCCAGGGCCCCTGAGACTTGGGGGATGCCAGGCCATCAGGGAGGGCAGCAGATGGGGCCACCAGGCCAGGGTGTCAGAGCGACCGTATGGGGGAGGGGCCTAGAGGGCCACCCTGTCCCCAGCCCAGGAGCGGAGCCAGCTATCTCCCAGCCCTGGAGGCAACAGGGGGTGACTCTAGGACAAATAACCGCCCTCTTTCCATGGGCAGTGGACCTGGGCAACCACTCCCAAGCCGGTGGCACCGTCTGGAAACACAAACAGGCCCCAGACAGGTGTAGGTAACTTCCTGCCTGACAGATGGGCCTGGAATCGCTGGGTGCCGGGGGACGCAGGTTGTGAGGTGATGTCTGGGACCTGCTGCCACCACCCCCGCAGTCCTTCACAGACAGCACCGCCCATCACGCAGCAGGGAGGCCCAGCCGAGGGAGCCCGGCATTTGGGCCCTGCAGCCTCTGCTCACGGGCACTGCACCCAAACCCATCACCTTTCCACGCTGGGGACGGCGTGCAGGGCTAAAAGCCAGCATGCGGGTGCTGAGGGCCAGAAGCGGAGCTCACACCTCCCACACCAACCACTCTAGAGGGGCAGCCCCCGCTCTGGGCCCTGAACAAGCGGCTGGGGTGGGAGGGATGACGCTTGGCTGAGTCTTGTTTTAAGGGTTAGGACGTATATAAAGTGTCTGGGGTGCAGTGAGGTTGATACATTGAGGCACTTCTTATTGGTTATAATGAAAACTGCTTGATTCAGGGACCCAGCGGGAGGGGTGGGGCCAGAGTGGGCTGGGCCAGGGATCCAGCTGGCCCCGCTGGCCCCAGCTTCCTAAATGGGGTCGCTCGGAGCCTGAGGACACAGGACAGAGATGGTGATAGCAGTTTCCAGGAGAAAACTGAAGACATGGAAGCCCCCCCTGTCATGGCTGGCACCCGGCTGGGACTCCTGGGCTCCTGGCCAGCAGTGGGGTGGGCAGACGCCAGACCTAGGGCTCCACCAGACATGCCAGTGGGTTGTGACAAGGCCTGGGAGGAGAACATTCTTATCTTTCCAGCTTGGTCCTGCGCACCCCGTCACAAGGGAATAAGCAGTTTCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGCGATCTCGGCTCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCGCCCGCTACCACGCCCGGCTAATTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCGTGTTAGCCAGGATGGTCTCGATCTCCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCGGCAAGCAGTTTCTTAAGAAGCATTTAGTGCAGCATGGTGGGCCCTTCACAGACCCCCGGGAACCTCTCAGGGTGTGGAAGAGATGTTTCTCCTGGATGCTCCAGGGCAGGGAAGGACAGCAGGAGCTGCAGGAGGAGAAACTGTCTGGGACTCTGGCCAAGTGTGAGCTGGGGAGGGCAGGGGCTCAGAGCCGGGCTGGGCGCAGCATCAGACACAAGCACAGCACAGGGTGGAGCAGTCCAGCTTGGCCGGGGTCCCCGGGGATCCAGCCTTCTTGTTGACCTTGGGCAGCAGCAGAACAAAGGACATAGCCAGGGCACGGTGGTAGAAGCTGTGGACATAAGTGTAGTCCCAGTCCTGCGGGGGGCAAGCGGTCAGTCTGGGGCCTCAGCCCCCTCCCCGAGGCTCCTCCCTCTCCAAGACCCAGCAGAGCCCCTTCAGGCCCCCGCCTCTGCCAGGGCACTGGGACACCTGCAGGAAGCCTCCCCCACGGTCGCGCTCACAGTGGTTTTTCTCTCCACCTAAACCCAGAGCAGTGAGGGCCTGTGCCATCCTCCAGGCTGCACTCCTTCCTTCTTCCCCATCCCCTCTCTCTGCTGTCCTTCTCTTCCTCCATCCTTCTCTCCCTCCTACCCTCCCTCCCTCCATCTCCCCCTCTTTTCTCTCCTTATCCCTCTTCCCCTGTTCCTCCCTCCCTCCTCCACTTTCTCCCTCCTTCCTTCCCTGTCTCCTCCCCTCCCTCCCTCCCTCCTCCAGGTGTTGGGCACCTGCCCCAGGCGTCTCCCAGGCTGTGCTGCCGTCTGAGATGCCAGCTGTCTGTAGGCAGCCAGCTTTGGTCTCTGTGACCTCCAGGTCCACACAGGCCATGGTGCTGGTGGTGCTGGGGACGGCATTGCCCCCGACATAGCCCTGGGAGGGGCTAGTGAGCAGGGACTAATACCAGACTTTGGCCTGGGGCTGTCAGAGTCCCCCCAGCGTGGGCACAGCCCTGGTATCCCAGCTGAGCAGAGCCATGCCGAGTGGGCTCTGGGGCACAGGACACCTCCCCGCTGGGCTTGGTACCTCAAAGAAGAAGCGTAGCATCAGGGCCAGCGCCCCGAAGCAGAGGCCGGGGCCTATCTGCTGGGTGTAGACGCTCTTGTCTGGGTACAGGCCCTTCTTCTCCTTCATCTTCTGTAGCTGTGAGGACAGGAGGCCACAGCAAAGCTTTTAGGTCACAGCACTGGGGAACGCCCCTCCCCAAACCAGCCCGAGAGCTGGCCCTGCACAGGCTCACCCCAGCCCTCTCCCGGCAGGAGAGGAGGCTCAGGAGCCTCCTGCCGCACCCAGCCTCAGATGGCTTCTGCTGGACAGGGCCCTTCACGGTGCGACCCAGCAGAGACCCCAGCCTGGATGGCTGGGAAGGAAGCCACTGGGCCATGTGCCCCACAAAGACCCCGCTGCCCTCCCGCCTCTTTGAGATGTAACAACGCCACCCTCGCATGTCTCCTCCTCCCTGGAGGGGAGCTCTGGGGGGACTAGACTCCATGATTGCTTACCAAGGAAAGTACTGGAGTACTTGGGACCTGCCAGCCCAGTGTGGCCCATGGGGATGGCACTTGTGGTGATCCCTGAGCCATGGACAAGCATCGTTTGCTTTCCTAGTTAAAGGACCTATCTCACTCTTCATTAGACAAACTTGGCCAGCACTGCTTCTCAGGTCCCAGTGCTTAGGAAGGCTCGCGTGGGCGTTTCCACTTACAGAGGGGTTTGCATTCCGAGGAAGATGCGGGAAGTGTGGGGCCACATCCCTGGAGCCGGCCTTGTGTTTTCTAGGCCACTTCACATGGAGTCTATTTGGGATTTTCAAGGGCAGTTGTTTCCTGGAATGAGGGTGGATTTTTCTCCCTGAGCCTGGTCCCCTCTTGGGAGGGGCTGGGGAACGACAGCCTTGTTGGGGAGGAAGGAGGGAGGGTTGGGTGATGGCGGCCTCGGAGTGGGGCCAGACCCGTGGGGGTACACTCAGGAGGCTATAGATTTCAGTGGAATCAACTGTTAGACACACAGCGTGTGGCACAAGCCCCTGGGGGTGGGGGCAGCACCCCATAACTGCACCCATTGCTGAGTGGCCTATGCAAAGAGCACAAAGAGCCTTATGCTGGGTCAGGTCAGGTTTTGCCACCCAGTGAATTATGAATTGATGCCCGGCTTTCCATTTTCTGGAATTCCATTGCCAACAAGGAATTGAGCACCTGCAGTCCTGCAGTGGCCTGAAGACAGCTGGACCGTGTGACCCTGGGTGCGGTGGTCAAGGCTGCCAGCCCACCTCTGGCCAGCCCTGCAGTAGTAACACCAGGGAGAAGAGAGGTGCCTGCCCCAGGTCACACAG
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Task1_train_13449
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This sequence change occurs on Chromosome 9, altering MYMK (myomaker, myoblast fusion factor). What is the medical significance of this variant — is it benign or linked to a disease?
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Pathogenic; Congenital nonprogressive myopathy with Moebius and Robin sequences
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TTTCCACGCTGGGGACGGCGTGCAGGGCTAAAAGCCAGCATGCGGGTGCTGAGGGCCAGAAGCGGAGCTCACACCTCCCACACCAACCACTCTAGAGGGGCAGCCCCCGCTCTGGGCCCTGAACAAGCGGCTGGGGTGGGAGGGATGACGCTTGGCTGAGTCTTGTTTTAAGGGTTAGGACGTATATAAAGTGTCTGGGGTGCAGTGAGGTTGATACATTGAGGCACTTCTTATTGGTTATAATGAAAACTGCTTGATTCAGGGACCCAGCGGGAGGGGTGGGGCCAGAGTGGGCTGGGCCAGGGATCCAGCTGGCCCCGCTGGCCCCAGCTTCCTAAATGGGGTCGCTCGGAGCCTGAGGACACAGGACAGAGATGGTGATAGCAGTTTCCAGGAGAAAACTGAAGACATGGAAGCCCCCCCTGTCATGGCTGGCACCCGGCTGGGACTCCTGGGCTCCTGGCCAGCAGTGGGGTGGGCAGACGCCAGACCTAGGGCTCCACCAGACATGCCAGTGGGTTGTGACAAGGCCTGGGAGGAGAACATTCTTATCTTTCCAGCTTGGTCCTGCGCACCCCGTCACAAGGGAATAAGCAGTTTCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGCGATCTCGGCTCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCGCCCGCTACCACGCCCGGCTAATTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCGTGTTAGCCAGGATGGTCTCGATCTCCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCGGCAAGCAGTTTCTTAAGAAGCATTTAGTGCAGCATGGTGGGCCCTTCACAGACCCCCGGGAACCTCTCAGGGTGTGGAAGAGATGTTTCTCCTGGATGCTCCAGGGCAGGGAAGGACAGCAGGAGCTGCAGGAGGAGAAACTGTCTGGGACTCTGGCCAAGTGTGAGCTGGGGAGGGCAGGGGCTCAGAGCCGGGCTGGGCGCAGCATCAGACACAAGCACAGCACAGGGTGGAGCAGTCCAGCTTGGCCGGGGTCCCCGGGGATCCAGCCTTCTTGTTGACCTTGGGCAGCAGCAGAACAAAGGACATAGCCAGGGCACAGTGGTAGAAGCTGTGGACATAAGTGTAGTCCCAGTCCTGCGGGGGGCAAGCGGTCAGTCTGGGGCCTCAGCCCCCTCCCCGAGGCTCCTCCCTCTCCAAGACCCAGCAGAGCCCCTTCAGGCCCCCGCCTCTGCCAGGGCACTGGGACACCTGCAGGAAGCCTCCCCCACGGTCGCGCTCACAGTGGTTTTTCTCTCCACCTAAACCCAGAGCAGTGAGGGCCTGTGCCATCCTCCAGGCTGCACTCCTTCCTTCTTCCCCATCCCCTCTCTCTGCTGTCCTTCTCTTCCTCCATCCTTCTCTCCCTCCTACCCTCCCTCCCTCCATCTCCCCCTCTTTTCTCTCCTTATCCCTCTTCCCCTGTTCCTCCCTCCCTCCTCCACTTTCTCCCTCCTTCCTTCCCTGTCTCCTCCCCTCCCTCCCTCCCTCCTCCAGGTGTTGGGCACCTGCCCCAGGCGTCTCCCAGGCTGTGCTGCCGTCTGAGATGCCAGCTGTCTGTAGGCAGCCAGCTTTGGTCTCTGTGACCTCCAGGTCCACACAGGCCATGGTGCTGGTGGTGCTGGGGACGGCATTGCCCCCGACATAGCCCTGGGAGGGGCTAGTGAGCAGGGACTAATACCAGACTTTGGCCTGGGGCTGTCAGAGTCCCCCCAGCGTGGGCACAGCCCTGGTATCCCAGCTGAGCAGAGCCATGCCGAGTGGGCTCTGGGGCACAGGACACCTCCCCGCTGGGCTTGGTACCTCAAAGAAGAAGCGTAGCATCAGGGCCAGCGCCCCGAAGCAGAGGCCGGGGCCTATCTGCTGGGTGTAGACGCTCTTGTCTGGGTACAGGCCCTTCTTCTCCTTCATCTTCTGTAGCTGTGAGGACAGGAGGCCACAGCAAAGCTTTTAGGTCACAGCACTGGGGAACGCCCCTCCCCAAACCAGCCCGAGAGCTGGCCCTGCACAGGCTCACCCCAGCCCTCTCCCGGCAGGAGAGGAGGCTCAGGAGCCTCCTGCCGCACCCAGCCTCAGATGGCTTCTGCTGGACAGGGCCCTTCACGGTGCGACCCAGCAGAGACCCCAGCCTGGATGGCTGGGAAGGAAGCCACTGGGCCATGTGCCCCACAAAGACCCCGCTGCCCTCCCGCCTCTTTGAGATGTAACAACGCCACCCTCGCATGTCTCCTCCTCCCTGGAGGGGAGCTCTGGGGGGACTAGACTCCATGATTGCTTACCAAGGAAAGTACTGGAGTACTTGGGACCTGCCAGCCCAGTGTGGCCCATGGGGATGGCACTTGTGGTGATCCCTGAGCCATGGACAAGCATCGTTTGCTTTCCTAGTTAAAGGACCTATCTCACTCTTCATTAGACAAACTTGGCCAGCACTGCTTCTCAGGTCCCAGTGCTTAGGAAGGCTCGCGTGGGCGTTTCCACTTACAGAGGGGTTTGCATTCCGAGGAAGATGCGGGAAGTGTGGGGCCACATCCCTGGAGCCGGCCTTGTGTTTTCTAGGCCACTTCACATGGAGTCTATTTGGGATTTTCAAGGGCAGTTGTTTCCTGGAATGAGGGTGGATTTTTCTCCCTGAGCCTGGTCCCCTCTTGGGAGGGGCTGGGGAACGACAGCCTTGTTGGGGAGGAAGGAGGGAGGGTTGGGTGATGGCGGCCTCGGAGTGGGGCCAGACCCGTGGGGGTACACTCAGGAGGCTATAGATTTCAGTGGAATCAACTGTTAGACACACAGCGTGTGGCACAAGCCCCTGGGGGTGGGGGCAGCACCCCATAACTGCACCCATTGCTGAGTGGCCTATGCAAAGAGCACAAAGAGCCTTATGCTGGGTCAGGTCAGGTTTTGCCACCCAGTGAATTATGAATTGATGCCCGGCTTTCCATTTTCTGGAATTCCATTGCCAACAAGGAATTGAGCACCTGCAGTCCTGCAGTGGCCTGAAGACAGCTGGACCGTGTGACCCTGGGTGCGGTGGTCAAGGCTGCCAGCCCACCTCTGGCCAGCCCTGCAGTAGTAACACCAGGGAGAAGAGAGGTGCCTGCCCCAGGTCACACAGTGGGCCTGGCACTATTGAAAGGGCGCCATCACCCAACCCTCCCTCCTTCTTCCTCCCGGGCTGCCATTGCCCAACCCCTCCCAAGAGGGGACGAGGCTCAGGGAGAAAAATCCACCCTCATTCCAGGAAACAATTGCCCTTGAAAATCCTAAATAAACTCCATACTAAATGGTCTAGAAGACAACAATTTGAGCCCCAGATGCGGGGAGGCGGGCAGCCCATCCTCGGCTCCTGTGGCTGGATCTGCAGCCTGAGGGCCTTGGCAGTCTCGTGGCTCTTGGTGGGAAACACAGCAGTGAATTCTCTTCTGGGCAATTACAGTTCAGCCCAGTTCAGACCTGGCCAAGACCAGCGGGAGGAGCAACCTTCAGGGGCAGAAGGAGGCGAGAGGCGGGTGGCCAGGACCCAGGGCCCCAGCACGCTCCTTCCTGCCACCCACCTTGGTCCAGCCCACTTATGCCCAGCGCTCCCTCTCTCCCCACCAGGTGACTCCCAGGGGCCTCCTGGGTCAGCCCAGGATTAGTGCTGCTTCCTCAGGTTGCAGACAGAAAGCAGGTCCTCTGTCTCCTGCTCAAAAAGTCAAGTCCAGCCAGGCGTGGTGGCTCATGCCTGTAATTCCAGCACTTTGGGAGACTGAGGCAGGCAGATTACCTGAAGTCAGGAGCTCAGGACCAGCCGGGCCAACGTGGTGAAACCCCATCGCTACTAAAAATATAAAAATTACCTGGGCGTGATGGCATGCGCCTATAATCCCAGCTACTCGGGAGGCTGAGACAGGAGAATCGCTTCAACCCGGG
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TTTCCACGCTGGGGACGGCGTGCAGGGCTAAAAGCCAGCATGCGGGTGCTGAGGGCCAGAAGCGGAGCTCACACCTCCCACACCAACCACTCTAGAGGGGCAGCCCCCGCTCTGGGCCCTGAACAAGCGGCTGGGGTGGGAGGGATGACGCTTGGCTGAGTCTTGTTTTAAGGGTTAGGACGTATATAAAGTGTCTGGGGTGCAGTGAGGTTGATACATTGAGGCACTTCTTATTGGTTATAATGAAAACTGCTTGATTCAGGGACCCAGCGGGAGGGGTGGGGCCAGAGTGGGCTGGGCCAGGGATCCAGCTGGCCCCGCTGGCCCCAGCTTCCTAAATGGGGTCGCTCGGAGCCTGAGGACACAGGACAGAGATGGTGATAGCAGTTTCCAGGAGAAAACTGAAGACATGGAAGCCCCCCCTGTCATGGCTGGCACCCGGCTGGGACTCCTGGGCTCCTGGCCAGCAGTGGGGTGGGCAGACGCCAGACCTAGGGCTCCACCAGACATGCCAGTGGGTTGTGACAAGGCCTGGGAGGAGAACATTCTTATCTTTCCAGCTTGGTCCTGCGCACCCCGTCACAAGGGAATAAGCAGTTTCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGCGATCTCGGCTCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCGCCCGCTACCACGCCCGGCTAATTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCGTGTTAGCCAGGATGGTCTCGATCTCCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCGGCAAGCAGTTTCTTAAGAAGCATTTAGTGCAGCATGGTGGGCCCTTCACAGACCCCCGGGAACCTCTCAGGGTGTGGAAGAGATGTTTCTCCTGGATGCTCCAGGGCAGGGAAGGACAGCAGGAGCTGCAGGAGGAGAAACTGTCTGGGACTCTGGCCAAGTGTGAGCTGGGGAGGGCAGGGGCTCAGAGCCGGGCTGGGCGCAGCATCAGACACAAGCACAGCACAGGGTGGAGCAGTCCAGCTTGGCCGGGGTCCCCGGGGATCCAGCCTTCTTGTTGACCTTGGGCAGCAGCAGAACAAAGGACATAGCCAGGGCACAGTGGTAGAAGCTGTGGACATAAGTGTAGTCCCAGTCCTGCGGGGGGCAAGCGGTCAGTCTGGGGCCTCAGCCCCCTCCCCGAGGCTCCTCCCTCTCCAAGACCCAGCAGAGCCCCTTCAGGCCCCCGCCTCTGCCAGGGCACTGGGACACCTGCAGGAAGCCTCCCCCACGGTCGCGCTCACAGTGGTTTTTCTCTCCACCTAAACCCAGAGCAGTGAGGGCCTGTGCCATCCTCCAGGCTGCACTCCTTCCTTCTTCCCCATCCCCTCTCTCTGCTGTCCTTCTCTTCCTCCATCCTTCTCTCCCTCCTACCCTCCCTCCCTCCATCTCCCCCTCTTTTCTCTCCTTATCCCTCTTCCCCTGTTCCTCCCTCCCTCCTCCACTTTCTCCCTCCTTCCTTCCCTGTCTCCTCCCCTCCCTCCCTCCCTCCTCCAGGTGTTGGGCACCTGCCCCAGGCGTCTCCCAGGCTGTGCTGCCGTCTGAGATGCCAGCTGTCTGTAGGCAGCCAGCTTTGGTCTCTGTGACCTCCAGGTCCACACAGGCCATGGTGCTGGTGGTGCTGGGGACGGCATTGCCCCCGACATAGCCCTGGGAGGGGCTAGTGAGCAGGGACTAATACCAGACTTTGGCCTGGGGCTGTCAGAGTCCCCCCAGCGTGGGCACAGCCCTGGTATCCCAGCTGAGCAGAGCCATGCCGAGTGGGCTCTGGGGCACAGGACACCTCCCCGCTGGGCTTGGTACCTCAAAGAAGAAGCGTAGCATCAGGGCCAGCGCCCCGAAGCAGAGGCCGGGGCCTGTCTGCTGGGTGTAGACGCTCTTGTCTGGGTACAGGCCCTTCTTCTCCTTCATCTTCTGTAGCTGTGAGGACAGGAGGCCACAGCAAAGCTTTTAGGTCACAGCACTGGGGAACGCCCCTCCCCAAACCAGCCCGAGAGCTGGCCCTGCACAGGCTCACCCCAGCCCTCTCCCGGCAGGAGAGGAGGCTCAGGAGCCTCCTGCCGCACCCAGCCTCAGATGGCTTCTGCTGGACAGGGCCCTTCACGGTGCGACCCAGCAGAGACCCCAGCCTGGATGGCTGGGAAGGAAGCCACTGGGCCATGTGCCCCACAAAGACCCCGCTGCCCTCCCGCCTCTTTGAGATGTAACAACGCCACCCTCGCATGTCTCCTCCTCCCTGGAGGGGAGCTCTGGGGGGACTAGACTCCATGATTGCTTACCAAGGAAAGTACTGGAGTACTTGGGACCTGCCAGCCCAGTGTGGCCCATGGGGATGGCACTTGTGGTGATCCCTGAGCCATGGACAAGCATCGTTTGCTTTCCTAGTTAAAGGACCTATCTCACTCTTCATTAGACAAACTTGGCCAGCACTGCTTCTCAGGTCCCAGTGCTTAGGAAGGCTCGCGTGGGCGTTTCCACTTACAGAGGGGTTTGCATTCCGAGGAAGATGCGGGAAGTGTGGGGCCACATCCCTGGAGCCGGCCTTGTGTTTTCTAGGCCACTTCACATGGAGTCTATTTGGGATTTTCAAGGGCAGTTGTTTCCTGGAATGAGGGTGGATTTTTCTCCCTGAGCCTGGTCCCCTCTTGGGAGGGGCTGGGGAACGACAGCCTTGTTGGGGAGGAAGGAGGGAGGGTTGGGTGATGGCGGCCTCGGAGTGGGGCCAGACCCGTGGGGGTACACTCAGGAGGCTATAGATTTCAGTGGAATCAACTGTTAGACACACAGCGTGTGGCACAAGCCCCTGGGGGTGGGGGCAGCACCCCATAACTGCACCCATTGCTGAGTGGCCTATGCAAAGAGCACAAAGAGCCTTATGCTGGGTCAGGTCAGGTTTTGCCACCCAGTGAATTATGAATTGATGCCCGGCTTTCCATTTTCTGGAATTCCATTGCCAACAAGGAATTGAGCACCTGCAGTCCTGCAGTGGCCTGAAGACAGCTGGACCGTGTGACCCTGGGTGCGGTGGTCAAGGCTGCCAGCCCACCTCTGGCCAGCCCTGCAGTAGTAACACCAGGGAGAAGAGAGGTGCCTGCCCCAGGTCACACAGTGGGCCTGGCACTATTGAAAGGGCGCCATCACCCAACCCTCCCTCCTTCTTCCTCCCGGGCTGCCATTGCCCAACCCCTCCCAAGAGGGGACGAGGCTCAGGGAGAAAAATCCACCCTCATTCCAGGAAACAATTGCCCTTGAAAATCCTAAATAAACTCCATACTAAATGGTCTAGAAGACAACAATTTGAGCCCCAGATGCGGGGAGGCGGGCAGCCCATCCTCGGCTCCTGTGGCTGGATCTGCAGCCTGAGGGCCTTGGCAGTCTCGTGGCTCTTGGTGGGAAACACAGCAGTGAATTCTCTTCTGGGCAATTACAGTTCAGCCCAGTTCAGACCTGGCCAAGACCAGCGGGAGGAGCAACCTTCAGGGGCAGAAGGAGGCGAGAGGCGGGTGGCCAGGACCCAGGGCCCCAGCACGCTCCTTCCTGCCACCCACCTTGGTCCAGCCCACTTATGCCCAGCGCTCCCTCTCTCCCCACCAGGTGACTCCCAGGGGCCTCCTGGGTCAGCCCAGGATTAGTGCTGCTTCCTCAGGTTGCAGACAGAAAGCAGGTCCTCTGTCTCCTGCTCAAAAAGTCAAGTCCAGCCAGGCGTGGTGGCTCATGCCTGTAATTCCAGCACTTTGGGAGACTGAGGCAGGCAGATTACCTGAAGTCAGGAGCTCAGGACCAGCCGGGCCAACGTGGTGAAACCCCATCGCTACTAAAAATATAAAAATTACCTGGGCGTGATGGCATGCGCCTATAATCCCAGCTACTCGGGAGGCTGAGACAGGAGAATCGCTTCAACCCGGG
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Task1_train_13450
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This alteration in MYMK (myomaker, myoblast fusion factor) on Chromosome 9 may affect gene function. Does it lead to a disease or is it benign?
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Pathogenic; Congenital nonprogressive myopathy with Moebius and Robin sequences
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CCCTAGCCCAGGCTGGAGTCCCAGAGGAGCGAATGCAGTGGCATTTGGGTGAGTCAGGAGCTCTGGAGAGCTTGATGGTCACAGTGACACAAGTGACTCTGTCTCTCTGGGATTTGGTTTCTTCATCTGCCAAATGGGAATCAAGATCCTAGGCTTGTGGGGAAGGTGAAAAGGCTGAATCAGACACTGTGCACAGAGCGCCTAGCCGAGTCCTCTGCCCTGGGTACTGGCGCTCGAGGTGGACTCAGAAGCTCCAGGGCATCTGGTTCCACAAAGGACCCAGCCTGTCCCAGGCCACTGTCACCCCTGGGAGTGGCACACACTGGAGGGAATGCCTCGCTCCCAGCCCACACGTGCACACTCAGCTTCTGCCATTGCGGGCAAAATTGGACTTGACCAATTCAGGATACAAGCATAACATGTGAATATATGCTTGCAAACACACGTGTGAGCTCACGGGCCTCACCCGCTCAGGACTCCCTCTGTGCACTCACATGCACTTGGCATTCTTGCCCATAGAGGCCCTGCTGCTGGAGAAGGAGGCTGTCTGGGGAGAGGAGGTGGAGTTTTCACAGGTTGGGCCCAGCACTGCCCCAAGAAGGAGGCTAGTGGGACGCTTGCCTCCCCAGAGCAGGTGTCATGCTGGGGATTGGGCTGTCAGTGAAGGAGGGGTGTGATGGAAGGTGAGCAAGGAAGGCTTCGGGAGAGCAAGAGGTGGGGCACCACTTGTGGGAGTCCAGGAGTGAGGGCATGTTAGTGGAGAAAGTCGGAAAGACCCAGAGGCAAGAAGGCAGGGGGTACCGAGACATATAAATGATGGCTGAATGGCGAGATGGTAATAGACGAATAGATCACAGGTAGATGGATGCGTAGATAGAGAGATAGATGGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGACAAGCTGGAGAAGGTGGATAGCTAAAGCCAGAGAGACACATGGAGAGTCAGGGGACTAAAACCAGGGAGGGTGGGACCAAGAGCTTTAGAGAGAGTGAATTCCATGGGGATCGAGTTCCAGAAATCAAAAGAGAACCAGACAGAGAGAGAAAGGAAAAAAAGAGAAACAGAGAAAACTAGACACAGAAAACCAATACGAGAAACACAGAGTGAAAGAGACCCAGAAAGAGAGAGAGAGAAGACAGGGGAGACAGGGGTCCCAGAAACAGCGACCTCAGAAACAAGGACAGATGGGGTTCTGGGCGCTCCACTGAAAGCCGGATAAGATCACCCAATGACAGGTACCAGGAAACAGAGAGCAGGAGAGAGCCAGAGAGAGAGCAAGCGGAGACAGTCAGCCAGCCAGACACATAAATAGAAAGAGAAAGACGGACCCACAGAGAGAGAAGTAGGCCCCAGAAGAGGGAGAGACCAGCAGGCCCTCCTGAACCAGAGCAGCTCCAGGATTCTGGAATCAGACTCACTCACCCAGGCCTTCACACTCCCTGAACCCTGCAGACCCCTTCCCAGGCCTGGCTTGCCCCACTCATCTCTGCTCCATCGTGGCCTATGGGTAGAGCTCGAAGAGAGGTGGGGAGGGGAGGTGGCCCCATGGGCAGCCGTGGGGGCTTTGATTAGCAGCTGAGAAAAGGGGCACGCTGGAAGGGTTTATCCTCAACTCAATGGCCCTGCTTCACCCCAGGCTTGGTCTCACACAGGCAGTGATCCCAGAGCAACTTCCTGGCACAGATGGGAAAACTGAGGTCCAGATAGGGGAAGGGACTCCCCTAGTCCTCTCTCTTCAGTCTCCAGACCCCACCTGGGCCTGCTGTTTCATTTTCAAATCACTTCTGCTCATCACCCAATACAAGAACGCTGTGGACAGAGAGCCTCTCCTCTACCTCCAGGATGGGGCCTGTGTGGGACTTCCTCCCAGCCCCCAGACTCACCGCCACGAAGAACAGGGTGAAGAGGTAGACCATGGCCTCCATGTGGAACCGCCTCTTGGCCGCGATGCTGACAGTGGGGAGGAAGGCCAGGCTGCTGAGGGTGGGCAGGAGCAGCTTGGCCACCAGCGTCCCCATGGGCCAGGAGGAAAGCACTGGCTGGGGTGGGGAGGGTGCTGGTGTCCCAGGTCCCCAGCACAGGAGCACGAAGTGGGAAGGCCAGCTCCCTTTGGGCAGGGCTCTGATGGCAGCTGCGGGGAGCACCCACAAGAGGGTTTAAATGCCCTTGACGGAGGCGGGGATGTGCGTGCACGTGTCGAGTAACACACGGAGAGGGCCAACAGCTGACATGCCACGTGACCAGCATTTGTCTCTGATTTTTCTTTTCTTTTTCTGAGACAGAGTCTCGCCCTGTCACCCAGGCTGGAGTGCAGTGGTGTGATCTCGGCTCACTGCAACCTCCACCTTCCAGGTTCAAGAGATTCTCCTGCCTTAGCCTCTGGAATAGGTGGGATGACAGGTGCCTGCCACCACACCCAGCTAATTTTTGTATTTTTAGTAGAGACAGGGTTTCACCATGTTGGCCAGGCTGGTCTCAAACTCCTGACCTCAGGTGATCCGCCCACCTTGGCCTCCCAAAGTGTTGGGATTGCAGGCATGAGCCACAGCGCCCGGCCTTCTCTCTTTTTTTTTTTTTTTTGAGGCCAGAGGAGTTAATTCAAGGATTCAGGGAGACCATATTTCTTTTCTCTGAGGCAACAACCTTGGGGAAAAGTCCCCAACAGGACAATCCCTGCCTTCTAGACATTTTCCATCCTGATCCTCCCCCCAGAATGGGAAGCCTGGTGGATGCTGCTGCTTCAGTCACGTGTCCATGGGTGGCCTGAGGTGAGAGAACCCAAGATTTCACCAATTCTAATCCTTAAAAGGACCTTGTAGATAAATCTCCCACCTTACCAGCCCACATATACTTCTCACTCGCCAGCTCTTGCCCCACACAGGTTTCCTTGGTGGCCAGACTAATGAAACTAACGTTCTTTTCTACTTGGTTACACTGTTTCACATTGTAAGTAAACAACCTGGGGCCATCTCTTTTAGTGTTCCAAGCACCAGGCCGGTGCTTGCCCTCTCGGTGTTTCTTCCCTCGTCTATTGACAACAGTTCTTTGGCTGGCCTTCCGGAAATTACCTTCCCTCGTTGTAAGAGGTCTTGCGGGAGCTGTCTGGCAGGGTGCCCCCTATCCCCTGGCCAAGGAATGATGGGTGTGTGTGGTCTGAGCTACCCAGGCAGACTCTCTTTCCCTGGATTGATTGATTGATTTGTTGTTAGCAAAATAACAGCTTTTACTTCCATGCTCTTTTTTCATTGTGATGTAATTCACATAGGACAAAACGCACAGATTTCACCTGTATAGTCTGCTGAAAACGCACCTTTGTAACCAGCACAGTGTCCATCCTCACCACCCAGGATATTCTCTTGAGCCCTTTCCAGTGAGCCCCCTGCAGAGGCAGCCACTGGTATGATTTCTGCCCCCGTACCTGACTGCCTGTCCTAGAACTCCTACAAATGGACCGTGGACTTTTTTGGATCTGGCTTCTTTTGCTCACAATGTCATGTCTGTGCGATTTGTCCCTGTCCTACTCATGGACAGTCCCTTCGGTTGCTGCTGGGTGGTGTCCAGTGTAGTATTCCTGCACCTTTGTTCTCCTGGAAATTAGAATCTGGGGACAGCAAGACCAAGGACCGTCTCAACACTGGCCCCTCCAAGAGAGGCTGCTGGGCCAGTCCTGCTTTGTGAGGCCCGGCTGTTCCACCTTTCCCTCCATGTGGGAGCTCCCACAGACCTTTCCAGAAATCTCTCTTAAGTTGGCTGGAGCCCATTTCTGCTGTTTGCAATGAAACGTCTGACTTGATATGTCTCATTCTGCTGCTTAAGACTCTTCTGAGGCGTCCACAGCCCAAAGGGTGAAGTCCAAGTGCTCACAGAGACCACCAGGCCATCTATGGCCCAGACCCGTTCCCCCAGCCCCCATGCACACTCTCAGACGCTGCCTCCTCTCCTCCCAGCCTCCCACCTCCCCTGCAGGGAGGCACTTCCTGCCCCGCCTGTTCTGGTGAATGCCTCGCTCCCTCTGCCTGCAGCCTAGACAGCCTGTCTGTGGGGAAAGCTTCTGTGATGAACAG
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CCCTAGCCCAGGCTGGAGTCCCAGAGGAGCGAATGCAGTGGCATTTGGGTGAGTCAGGAGCTCTGGAGAGCTTGATGGTCACAGTGACACAAGTGACTCTGTCTCTCTGGGATTTGGTTTCTTCATCTGCCAAATGGGAATCAAGATCCTAGGCTTGTGGGGAAGGTGAAAAGGCTGAATCAGACACTGTGCACAGAGCGCCTAGCCGAGTCCTCTGCCCTGGGTACTGGCGCTCGAGGTGGACTCAGAAGCTCCAGGGCATCTGGTTCCACAAAGGACCCAGCCTGTCCCAGGCCACTGTCACCCCTGGGAGTGGCACACACTGGAGGGAATGCCTCGCTCCCAGCCCACACGTGCACACTCAGCTTCTGCCATTGCGGGCAAAATTGGACTTGACCAATTCAGGATACAAGCATAACATGTGAATATATGCTTGCAAACACACGTGTGAGCTCACGGGCCTCACCCGCTCAGGACTCCCTCTGTGCACTCACATGCACTTGGCATTCTTGCCCATAGAGGCCCTGCTGCTGGAGAAGGAGGCTGTCTGGGGAGAGGAGGTGGAGTTTTCACAGGTTGGGCCCAGCACTGCCCCAAGAAGGAGGCTAGTGGGACGCTTGCCTCCCCAGAGCAGGTGTCATGCTGGGGATTGGGCTGTCAGTGAAGGAGGGGTGTGATGGAAGGTGAGCAAGGAAGGCTTCGGGAGAGCAAGAGGTGGGGCACCACTTGTGGGAGTCCAGGAGTGAGGGCATGTTAGTGGAGAAAGTCGGAAAGACCCAGAGGCAAGAAGGCAGGGGGTACCGAGACATATAAATGATGGCTGAATGGCGAGATGGTAATAGACGAATAGATCACAGGTAGATGGATGCGTAGATAGAGAGATAGATGGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGACAAGCTGGAGAAGGTGGATAGCTAAAGCCAGAGAGACACATGGAGAGTCAGGGGACTAAAACCAGGGAGGGTGGGACCAAGAGCTTTAGAGAGAGTGAATTCCATGGGGATCGAGTTCCAGAAATCAAAAGAGAACCAGACAGAGAGAGAAAGGAAAAAAAGAGAAACAGAGAAAACTAGACACAGAAAACCAATACGAGAAACACAGAGTGAAAGAGACCCAGAAAGAGAGAGAGAGAAGACAGGGGAGACAGGGGTCCCAGAAACAGCGACCTCAGAAACAAGGACAGATGGGGTTCTGGGCGCTCCACTGAAAGCCGGATAAGATCACCCAATGACAGGTACCAGGAAACAGAGAGCAGGAGAGAGCCAGAGAGAGAGCAAGCGGAGACAGTCAGCCAGCCAGACACATAAATAGAAAGAGAAAGACGGACCCACAGAGAGAGAAGTAGGCCCCAGAAGAGGGAGAGACCAGCAGGCCCTCCTGAACCAGAGCAGCTCCAGGATTCTGGAATCAGACTCACTCACCCAGGCCTTCACACTCCCTGAACCCTGCAGACCCCTTCCCAGGCCTGGCTTGCCCCACTCATCTCTGCTCCATCGTGGCCTATGGGTAGAGCTCGAAGAGAGGTGGGGAGGGGAGGTGGCCCCATGGGCAGCCGTGGGGGCTTTGATTAGCAGCTGAGAAAAGGGGCACGCTGGAAGGGTTTATCCTCAACTCAATGGCCCTGCTTCACCCCAGGCTTGGTCTCACACAGGCAGTGATCCCAGAGCAACTTCCTGGCACAGATGGGAAAACTGAGGTCCAGATAGGGGAAGGGACTCCCCTAGTCCTCTCTCTTCAGTCTCCAGACCCCACCTGGGCCTGCTGTTTCATTTTCAAATCACTTCTGCTCATCACCCAATACAAGAACGCTGTGGACAGAGAGCCTCTCCTCTACCTCCAGGATGGGGCCTGTGTGGGACTTCCTCCCAGCCCCCAGACTCACCGCCACGAAGAACAGGGTGAAGAGGTAGACCATGGCCTCCATGTGGAACCGCCTCTTGGCCGCGATGCTGACAGTGGGGAGGAAGGCCAGGCTGCTGAGGGTGGGCAGGAGCAGCTTGGCCACCAGCGTCCCCTTGGGCCAGGAGGAAAGCACTGGCTGGGGTGGGGAGGGTGCTGGTGTCCCAGGTCCCCAGCACAGGAGCACGAAGTGGGAAGGCCAGCTCCCTTTGGGCAGGGCTCTGATGGCAGCTGCGGGGAGCACCCACAAGAGGGTTTAAATGCCCTTGACGGAGGCGGGGATGTGCGTGCACGTGTCGAGTAACACACGGAGAGGGCCAACAGCTGACATGCCACGTGACCAGCATTTGTCTCTGATTTTTCTTTTCTTTTTCTGAGACAGAGTCTCGCCCTGTCACCCAGGCTGGAGTGCAGTGGTGTGATCTCGGCTCACTGCAACCTCCACCTTCCAGGTTCAAGAGATTCTCCTGCCTTAGCCTCTGGAATAGGTGGGATGACAGGTGCCTGCCACCACACCCAGCTAATTTTTGTATTTTTAGTAGAGACAGGGTTTCACCATGTTGGCCAGGCTGGTCTCAAACTCCTGACCTCAGGTGATCCGCCCACCTTGGCCTCCCAAAGTGTTGGGATTGCAGGCATGAGCCACAGCGCCCGGCCTTCTCTCTTTTTTTTTTTTTTTTGAGGCCAGAGGAGTTAATTCAAGGATTCAGGGAGACCATATTTCTTTTCTCTGAGGCAACAACCTTGGGGAAAAGTCCCCAACAGGACAATCCCTGCCTTCTAGACATTTTCCATCCTGATCCTCCCCCCAGAATGGGAAGCCTGGTGGATGCTGCTGCTTCAGTCACGTGTCCATGGGTGGCCTGAGGTGAGAGAACCCAAGATTTCACCAATTCTAATCCTTAAAAGGACCTTGTAGATAAATCTCCCACCTTACCAGCCCACATATACTTCTCACTCGCCAGCTCTTGCCCCACACAGGTTTCCTTGGTGGCCAGACTAATGAAACTAACGTTCTTTTCTACTTGGTTACACTGTTTCACATTGTAAGTAAACAACCTGGGGCCATCTCTTTTAGTGTTCCAAGCACCAGGCCGGTGCTTGCCCTCTCGGTGTTTCTTCCCTCGTCTATTGACAACAGTTCTTTGGCTGGCCTTCCGGAAATTACCTTCCCTCGTTGTAAGAGGTCTTGCGGGAGCTGTCTGGCAGGGTGCCCCCTATCCCCTGGCCAAGGAATGATGGGTGTGTGTGGTCTGAGCTACCCAGGCAGACTCTCTTTCCCTGGATTGATTGATTGATTTGTTGTTAGCAAAATAACAGCTTTTACTTCCATGCTCTTTTTTCATTGTGATGTAATTCACATAGGACAAAACGCACAGATTTCACCTGTATAGTCTGCTGAAAACGCACCTTTGTAACCAGCACAGTGTCCATCCTCACCACCCAGGATATTCTCTTGAGCCCTTTCCAGTGAGCCCCCTGCAGAGGCAGCCACTGGTATGATTTCTGCCCCCGTACCTGACTGCCTGTCCTAGAACTCCTACAAATGGACCGTGGACTTTTTTGGATCTGGCTTCTTTTGCTCACAATGTCATGTCTGTGCGATTTGTCCCTGTCCTACTCATGGACAGTCCCTTCGGTTGCTGCTGGGTGGTGTCCAGTGTAGTATTCCTGCACCTTTGTTCTCCTGGAAATTAGAATCTGGGGACAGCAAGACCAAGGACCGTCTCAACACTGGCCCCTCCAAGAGAGGCTGCTGGGCCAGTCCTGCTTTGTGAGGCCCGGCTGTTCCACCTTTCCCTCCATGTGGGAGCTCCCACAGACCTTTCCAGAAATCTCTCTTAAGTTGGCTGGAGCCCATTTCTGCTGTTTGCAATGAAACGTCTGACTTGATATGTCTCATTCTGCTGCTTAAGACTCTTCTGAGGCGTCCACAGCCCAAAGGGTGAAGTCCAAGTGCTCACAGAGACCACCAGGCCATCTATGGCCCAGACCCGTTCCCCCAGCCCCCATGCACACTCTCAGACGCTGCCTCCTCTCCTCCCAGCCTCCCACCTCCCCTGCAGGGAGGCACTTCCTGCCCCGCCTGTTCTGGTGAATGCCTCGCTCCCTCTGCCTGCAGCCTAGACAGCCTGTCTGTGGGGAAAGCTTCTGTGATGAACAG
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Task1_train_13451
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An alteration has been detected in ADAMTSL2 (ADAMTS like 2) on Chromosome 9. Is it pathogenic, and if so, what disease is involved?
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Pathogenic; not provided
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AAAATCTGCAGGTGCCGGGCCTGCAAGGAAACTCTTCAAGTTGGATGGAGGCTGCTGAGGAGGGAGGGGCAGAGCCCGAGTTGGCCTCTGGCCTGGCAGGGGTGAGGGGTGACCTCCATGCCTTCTTCCCCTGGAATTGGCCAGGCGTGGGGGTCGAGTCCCTGAGTTTGCTAGTGTGCTACCTTGCTGTGTGGCTTTGAGCAGGTTGGCTCCCCTCTCTGGGCTCCAGGTTATGAGTGCAGGCTGCGTGGTTTCTGAAATCCCTTCTCTAACTCGCTGGCAAGTGACCCTCAGCACCTGAGCAAGGCCTGGACAGAGGTCATGGTGGATCTCTGGTCTTCCCTTCCACAGGGCAGGGTCGACGCTGAGGAGGGGGTGGGGAGAGCTGAGGGCCTGGAGGCTGGACAGTCCCTTCCAATGGGCTTGCTTTGACCCCTGGCAGGTGTTTTGAGCCAAGGGTGCTGGCTGTTGGGAGGAAGTCAGCCTTGTGGCCCTGGACTGCTGACATGCTGGCACAAACTGCACCTCCTCCTGCCCTGCCCCTCCCCCAATTCCATCTTCTCTCCGGGGATCGGGAGGCGGCATAGGTACCTGGGTTCTGCCTCACCTGAGTGCCGGCTGTTGCTGGATGCTGACTGTGGAGCTGCTGGTCTAGGGCGAGGCTGCACATTCCCCCGGGACCTGGCCAAGCCCATCCCCATGCACTGACCCTAGCAGCCAGTGGCAGAGGCCATTCTCCTGCGAGGCCAGCAAGAGCTGAGCCAGTTAAAATCCCAAGGTGCTCCTGCCAAGGCGCTGGACTGAGCCCAGGCCCATCCCTTCGAACCAGAGCCTTTCCCCCCGCCTGGGTCCCCAGCCCCCTCAGCCGAGGCTGGCTGTCTCCACAGCCCTTCTCTAGGGGGCTTGAGGACTTGGAGGCAAAGCATGGCATGCTTCCCTGCATGCCCTTGGATCAAGGGTGGCACAGGCTTAGCACGCACACCGCCGCTGGGTGTCTTGCCTGAAGCAGGCATTACTAATCATTCACCAAGCTCCTTCTTGCTAAGCCTAGACTGAGGCGGGGGGTTCATCCTTCCCAACAGGGTCTGCCAGACAACCACGACCAACTAGTCCCAGATAACCTTGAGGCCTGGGCACTGGCTGGGCCCCGAGGGCTCTTCCCAAAGCGTACCCTGGTCATCTGGAAGAGGATCGGAGCTGGCCTGGTGGTGACAGTGGCCTTGCTTCCTAGGATGGATGGCAGATGGCAATGTTCCTGCTGGGCCTGGTTCCTGCTGGTTCTGGCAGTTGTAGCTGGGGACACAGTGTCAACCGGGTCCACGGTGAGTGGGGTGTTGTGGTCTGAGGGCCCATGCCAGTCCCCTACCCAGGTGCTGTGATCACTCTCAGATGGACTGGCTTGGAGGGAGCCGTGTGGGCACGTGCCCCAGGTCCCAGAACCCATCTTGGCTCCTAGAAACTTCTGCCCAGAGCCAGTCAGATCAGCCTCTGAACTGGGGCCCTGGCTACTGTGGAGCCCCTGGCGACTTGGCAGGCGAGGGCTGAGGGGGCTGAGTGCTTCCCTTCCAAGTGAAGGCCCCAGCACGGCCAGGGTAGGCTGTGTCCTGCAGAACGCAGTTGGGCCCTGAGCTGCTCCGGGGAAAGTGAGGACAGTTAGATGCGGCCCCAGGAGCTTGCCAAGCCCCCAGGCCATCCTGGACCTTAAGGTCAAGGAGGACCCGTGGCCCACGGTTCCTTGGGAGTTCCCCCCAGCGCCACCCAGGAGATCTGAACCCAAGCTGCCGAGTGACCCTGCAAGGGGGCCCAGCCAGGGGGCTGTGTCTTCTGGTCCCGCTGACGGTGATACCCTCGGGCATGGGGTGGGGGCAGGCTGGTCCTCCTGGGCACTTGAGCCCTCTACCATCTGGGGGTCCCTCTCACCCAGGACAACAGCCCAACATCCAATAGCCTGGAGGGGGGCACCGACGCCACGGCCTTCTGGTGGGGGGAGTGGACCAAGTGGACGGCGTGTTCCCGCAGTTGCGGGGGTGGGGTGACATCCCAGGAGCGGCACTGCCTGCAGCAGAGGTGCGAGGTTGGGCACGTGGCCCTGAGGGGATGGCATGAGGGCAGGGTAGCGGGCAGGAGAGGGCGGTTGGCTCTTCAGCCTGGTGGCTTCTCCCCCTGGGAGGGCTCTCGGGTTGGGGGCAGCACAGGCTGAGTCCCCCCATCAGCCTCTGCTGGACGCGGCTATGGATGGGCCCCAGCACTGGTGCTCTGGGGTCCTTCATGCTTCAGGGCACCAGGAAAGCCCTTTCACGAGAGGGCAGGAGCCATTTCTAGAGGTCTGTCCTGGAGGCGGAGAACCACCCTGACTTCTCTTCTGAAGACCTGAGTGAGGGTCTTTAGAATATGCCAGGGAGCCCCGGGAGAAGCAGAGGACTGGCAGGAAAGCCTCCGCTGCCAGATGGACCTGGCTCCTATCTAGCCTGTGCTACTCCCTCACTGTATGACCTTGGGCAAGTCACTTAACCTCTCTGAGCATCAGTTTTCTCATCCATGGCATGGAGAGCGTGCTGGTCTCACCTCATGCTTCTGAGAACACACATGTGTGTGCACCTGGGCACAGGCCTGGCACACAACCCATGTGGTTGTTTCAATTCTGTGTACTGAGCCCCTGTGCTATGTGCTGCTGATGTAGAAGTGAATCAAATCTCATTCCCCCTTGGCTCTGGTGTGTGTACGGGGTGGGAGTTGAGTAGGGAGGAAGGAGCCCTCTGGGTCACGGGTATCGGGAGATTCTGGATCCCAGTGGCCGTGGGGCCAGCCCAGGCGACATTCCTGAAACTCCTCTGCAGCCCTCACTCCGAGCCTGCATCTTTCTGCCAGGAGGAAGTCCGTCCCGGGCCCCGGGAACAGGACCTGCACGGGCACGTCCAAGCGGTACCAGCTCTGCAGAGTGCAGGTGAGGCCCGGCCCGGGCAGGGGCACCATGGCCTGCTCTCCCTGTCATCATGCAGTTTTCAGGGGGTCTTCCAGGTGGCTCCTGGGCATTCTGGGCATTCTGTTGTGGGCTGCTCTTCAAGGAGAGCCCAGGAGCAGGGTTGAGAAGGCTGCGGGGGGCCCTGGGCTAGTACGGAGCCATCCACTGTCCAGACCACTGTCCCTGTGCTCACATGTGCTCAGCAATGCTGGGACGGGCGGACTCACTCTGCTCCTGGAACTTCAAGTGCAGCCTCAAGGTTTGGGGTCTCTGGTCGCAGCTCCACTTTACTCACAACATTCGTGCACCTGGTGCTCACAGAGACCCAGCAGTTGCCAGGCTTCCCCGTCCCATGAAACAGTACCCCCCACGCCATAAAACAGTTCCCTGGGTTGCTCTCGGAGCCCTTCTGCTCCAGCCCCCATCAGCTTCCTTGGGTAGCCGAGGCTGAAGAGGAGGTTCTGACTCTGACCAGGCAGCTCTCAGTGGGGCCCTGGGCAGTTGGAACCTGAACACCTTTCCAAGGACTGCAGGGCGTGAGGCTGGGGCACGCCGAGCTGGGATCTGGGCCTCCCAGGCTGGCTCGTGTGGCTTGCCTGGGCAGGGAAGGCAGAGCAGCTGGGGGTCTCTGTGTCTGTGTGTCTCAGGGGGTGTGTGCGCACGTGCAGGGAGTGAGGGGCTGGAGGGAGGCAGGTGGCCACCGCTTCTGTGTTGGCGTCACCTGGTCAGCTGCCCTCCTAGGGCAGTGCAGCCAGGGTTGGGGGAGGGGCATTTATGAGCTCCAGCATGAGAGGGACCCAGGTTTGAGCTCTGGCCCCGGCACGACTAAGCTGGGTCCCCTCCGAGGATGAGTCTCTTGTCTGCACGCTGGGTTCCTCTTTATGGAGTCAGGACCACGATCTTCCTGATTTACGCAGTGTGCATGGCCACGGACCGTGTGCCAGGCCCTGTCCCGTCACTGTAGACACACAGTCAGGGCCTGCTGAGGACACGGGCGAGGGGAGCACCCTTGCCAGCCATCCTAGGGTCATGTCCCCTCCACCGCAAGGCTGGGAGAAGGCGTGGTGGGGACTGGGAGGGTTGTGTCTAGAGTAGGCGGAGGGCTGGCGTGGGGGGCGGAGCTGCCCTTTCCTG
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AAAATCTGCAGGTGCCGGGCCTGCAAGGAAACTCTTCAAGTTGGATGGAGGCTGCTGAGGAGGGAGGGGCAGAGCCCGAGTTGGCCTCTGGCCTGGCAGGGGTGAGGGGTGACCTCCATGCCTTCTTCCCCTGGAATTGGCCAGGCGTGGGGGTCGAGTCCCTGAGTTTGCTAGTGTGCTACCTTGCTGTGTGGCTTTGAGCAGGTTGGCTCCCCTCTCTGGGCTCCAGGTTATGAGTGCAGGCTGCGTGGTTTCTGAAATCCCTTCTCTAACTCGCTGGCAAGTGACCCTCAGCACCTGAGCAAGGCCTGGACAGAGGTCATGGTGGATCTCTGGTCTTCCCTTCCACAGGGCAGGGTCGACGCTGAGGAGGGGGTGGGGAGAGCTGAGGGCCTGGAGGCTGGACAGTCCCTTCCAATGGGCTTGCTTTGACCCCTGGCAGGTGTTTTGAGCCAAGGGTGCTGGCTGTTGGGAGGAAGTCAGCCTTGTGGCCCTGGACTGCTGACATGCTGGCACAAACTGCACCTCCTCCTGCCCTGCCCCTCCCCCAATTCCATCTTCTCTCCGGGGATCGGGAGGCGGCATAGGTACCTGGGTTCTGCCTCACCTGAGTGCCGGCTGTTGCTGGATGCTGACTGTGGAGCTGCTGGTCTAGGGCGAGGCTGCACATTCCCCCGGGACCTGGCCAAGCCCATCCCCATGCACTGACCCTAGCAGCCAGTGGCAGAGGCCATTCTCCTGCGAGGCCAGCAAGAGCTGAGCCAGTTAAAATCCCAAGGTGCTCCTGCCAAGGCGCTGGACTGAGCCCAGGCCCATCCCTTCGAACCAGAGCCTTTCCCCCCGCCTGGGTCCCCAGCCCCCTCAGCCGAGGCTGGCTGTCTCCACAGCCCTTCTCTAGGGGGCTTGAGGACTTGGAGGCAAAGCATGGCATGCTTCCCTGCATGCCCTTGGATCAAGGGTGGCACAGGCTTAGCACGCACACCGCCGCTGGGTGTCTTGCCTGAAGCAGGCATTACTAATCATTCACCAAGCTCCTTCTTGCTAAGCCTAGACTGAGGCGGGGGGTTCATCCTTCCCAACAGGGTCTGCCAGACAACCACGACCAACTAGTCCCAGATAACCTTGAGGCCTGGGCACTGGCTGGGCCCCGAGGGCTCTTCCCAAAGCGTACCCTGGTCATCTGGAAGAGGATCGGAGCTGGCCTGGTGGTGACAGTGGCCTTGCTTCCTAGGATGGATGGCAGATGGCAATGTTCCTGCTGGGCCTGGTTCCTGCTGGTTCTGGCAGTTGTAGCTGGGGACACAGTGTCAACCGGGTCCACGGTGAGTGGGGTGTTGTGGTCTGAGGGCCCATGCCAGTCCCCTACCCAGGTGCTGTGATCACTCTCAGATGGACTGGCTTGGAGGGAGCCGTGTGGGCACGTGCCCCAGGTCCCAGAACCCATCTTGGCTCCTAGAAACTTCTGCCCAGAGCCAGTCAGATCAGCCTCTGAACTGGGGCCCTGGCTACTGTGGAGCCCCTGGCGACTTGGCAGGCGAGGGCTGAGGGGGCTGAGTGCTTCCCTTCCAAGTGAAGGCCCCAGCACGGCCAGGGTAGGCTGTGTCCTGCAGAACGCAGTTGGGCCCTGAGCTGCTCCGGGGAAAGTGAGGACAGTTAGATGCGGCCCCAGGAGCTTGCCAAGCCCCCAGGCCATCCTGGACCTTAAGGTCAAGGAGGACCCGTGGCCCACGGTTCCTTGGGAGTTCCCCCCAGCGCCACCCAGGAGATCTGAACCCAAGCTGCCGAGTGACCCTGCAAGGGGGCCCAGCCAGGGGGCTGTGTCTTCTGGTCCCGCTGACGGTGATACCCTCGGGCATGGGGTGGGGGCAGGCTGGTCCTCCTGGGCACTTGAGCCCTCTACCATCTGGGGGTCCCTCTCACCCAGGACAACAGCCCAACATCCAATAGCCTGGAGGGGGGCACCGACGCCACGGCCTTCTGGTGGGGGGAGTGGACCAAGTGGACGGCGTGTTCCCGCAGTTGCGGGGGTGGGGTGACATCCCAGGAGCAGCACTGCCTGCAGCAGAGGTGCGAGGTTGGGCACGTGGCCCTGAGGGGATGGCATGAGGGCAGGGTAGCGGGCAGGAGAGGGCGGTTGGCTCTTCAGCCTGGTGGCTTCTCCCCCTGGGAGGGCTCTCGGGTTGGGGGCAGCACAGGCTGAGTCCCCCCATCAGCCTCTGCTGGACGCGGCTATGGATGGGCCCCAGCACTGGTGCTCTGGGGTCCTTCATGCTTCAGGGCACCAGGAAAGCCCTTTCACGAGAGGGCAGGAGCCATTTCTAGAGGTCTGTCCTGGAGGCGGAGAACCACCCTGACTTCTCTTCTGAAGACCTGAGTGAGGGTCTTTAGAATATGCCAGGGAGCCCCGGGAGAAGCAGAGGACTGGCAGGAAAGCCTCCGCTGCCAGATGGACCTGGCTCCTATCTAGCCTGTGCTACTCCCTCACTGTATGACCTTGGGCAAGTCACTTAACCTCTCTGAGCATCAGTTTTCTCATCCATGGCATGGAGAGCGTGCTGGTCTCACCTCATGCTTCTGAGAACACACATGTGTGTGCACCTGGGCACAGGCCTGGCACACAACCCATGTGGTTGTTTCAATTCTGTGTACTGAGCCCCTGTGCTATGTGCTGCTGATGTAGAAGTGAATCAAATCTCATTCCCCCTTGGCTCTGGTGTGTGTACGGGGTGGGAGTTGAGTAGGGAGGAAGGAGCCCTCTGGGTCACGGGTATCGGGAGATTCTGGATCCCAGTGGCCGTGGGGCCAGCCCAGGCGACATTCCTGAAACTCCTCTGCAGCCCTCACTCCGAGCCTGCATCTTTCTGCCAGGAGGAAGTCCGTCCCGGGCCCCGGGAACAGGACCTGCACGGGCACGTCCAAGCGGTACCAGCTCTGCAGAGTGCAGGTGAGGCCCGGCCCGGGCAGGGGCACCATGGCCTGCTCTCCCTGTCATCATGCAGTTTTCAGGGGGTCTTCCAGGTGGCTCCTGGGCATTCTGGGCATTCTGTTGTGGGCTGCTCTTCAAGGAGAGCCCAGGAGCAGGGTTGAGAAGGCTGCGGGGGGCCCTGGGCTAGTACGGAGCCATCCACTGTCCAGACCACTGTCCCTGTGCTCACATGTGCTCAGCAATGCTGGGACGGGCGGACTCACTCTGCTCCTGGAACTTCAAGTGCAGCCTCAAGGTTTGGGGTCTCTGGTCGCAGCTCCACTTTACTCACAACATTCGTGCACCTGGTGCTCACAGAGACCCAGCAGTTGCCAGGCTTCCCCGTCCCATGAAACAGTACCCCCCACGCCATAAAACAGTTCCCTGGGTTGCTCTCGGAGCCCTTCTGCTCCAGCCCCCATCAGCTTCCTTGGGTAGCCGAGGCTGAAGAGGAGGTTCTGACTCTGACCAGGCAGCTCTCAGTGGGGCCCTGGGCAGTTGGAACCTGAACACCTTTCCAAGGACTGCAGGGCGTGAGGCTGGGGCACGCCGAGCTGGGATCTGGGCCTCCCAGGCTGGCTCGTGTGGCTTGCCTGGGCAGGGAAGGCAGAGCAGCTGGGGGTCTCTGTGTCTGTGTGTCTCAGGGGGTGTGTGCGCACGTGCAGGGAGTGAGGGGCTGGAGGGAGGCAGGTGGCCACCGCTTCTGTGTTGGCGTCACCTGGTCAGCTGCCCTCCTAGGGCAGTGCAGCCAGGGTTGGGGGAGGGGCATTTATGAGCTCCAGCATGAGAGGGACCCAGGTTTGAGCTCTGGCCCCGGCACGACTAAGCTGGGTCCCCTCCGAGGATGAGTCTCTTGTCTGCACGCTGGGTTCCTCTTTATGGAGTCAGGACCACGATCTTCCTGATTTACGCAGTGTGCATGGCCACGGACCGTGTGCCAGGCCCTGTCCCGTCACTGTAGACACACAGTCAGGGCCTGCTGAGGACACGGGCGAGGGGAGCACCCTTGCCAGCCATCCTAGGGTCATGTCCCCTCCACCGCAAGGCTGGGAGAAGGCGTGGTGGGGACTGGGAGGGTTGTGTCTAGAGTAGGCGGAGGGCTGGCGTGGGGGGCGGAGCTGCCCTTTCCTG
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Task1_train_13452
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A variant was discovered in gene ADAMTSL2 (ADAMTS like 2), Chromosome 9. Please indicate if this mutation results in a known disease or if it's non-harmful.
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Pathogenic; Geleophysic dysplasia 1
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GGGGGGCCCTGGGCTAGTACGGAGCCATCCACTGTCCAGACCACTGTCCCTGTGCTCACATGTGCTCAGCAATGCTGGGACGGGCGGACTCACTCTGCTCCTGGAACTTCAAGTGCAGCCTCAAGGTTTGGGGTCTCTGGTCGCAGCTCCACTTTACTCACAACATTCGTGCACCTGGTGCTCACAGAGACCCAGCAGTTGCCAGGCTTCCCCGTCCCATGAAACAGTACCCCCCACGCCATAAAACAGTTCCCTGGGTTGCTCTCGGAGCCCTTCTGCTCCAGCCCCCATCAGCTTCCTTGGGTAGCCGAGGCTGAAGAGGAGGTTCTGACTCTGACCAGGCAGCTCTCAGTGGGGCCCTGGGCAGTTGGAACCTGAACACCTTTCCAAGGACTGCAGGGCGTGAGGCTGGGGCACGCCGAGCTGGGATCTGGGCCTCCCAGGCTGGCTCGTGTGGCTTGCCTGGGCAGGGAAGGCAGAGCAGCTGGGGGTCTCTGTGTCTGTGTGTCTCAGGGGGTGTGTGCGCACGTGCAGGGAGTGAGGGGCTGGAGGGAGGCAGGTGGCCACCGCTTCTGTGTTGGCGTCACCTGGTCAGCTGCCCTCCTAGGGCAGTGCAGCCAGGGTTGGGGGAGGGGCATTTATGAGCTCCAGCATGAGAGGGACCCAGGTTTGAGCTCTGGCCCCGGCACGACTAAGCTGGGTCCCCTCCGAGGATGAGTCTCTTGTCTGCACGCTGGGTTCCTCTTTATGGAGTCAGGACCACGATCTTCCTGATTTACGCAGTGTGCATGGCCACGGACCGTGTGCCAGGCCCTGTCCCGTCACTGTAGACACACAGTCAGGGCCTGCTGAGGACACGGGCGAGGGGAGCACCCTTGCCAGCCATCCTAGGGTCATGTCCCCTCCACCGCAAGGCTGGGAGAAGGCGTGGTGGGGACTGGGAGGGTTGTGTCTAGAGTAGGCGGAGGGCTGGCGTGGGGGGCGGAGCTGCCCTTTCCTGCGTCCTTGCTCCCTCCTGAGAGCGCATGGGAGCGCGCAGGAGCCCTAGAGGCCACCCCGTGGGCCGTGGCCCCCGCACGGCTGTCCCGGCTGTCCCGGCTGTCCCGGCTGCAGCCACTTCCTGCTTAGCCTGGACAAAAATGCCTTTGTCGGGCCGAGTTCCTCCCGGAGCCTCCCTGTCCCTTCGCTTCCCAGGAGTGTCCGCCGGACGGGAGGAGCTTCCGCGAGGAGCAGTGCGTCTCCTTCAACTCCCACGTGTACAACGGGCGGACGCACCAGTGGAAGCCTCTGTACCCGGGTACCTGCCGCCCTGGGGACCCACCTTGCAGGGAGCTGACTGAGCTTTGGGGGTAGCCCTTCCGGCACCTGGGACCAAACTCGACGGGTGGGCAGGTGGGGAAATGGAGGTGGTCAGACGAAGAGCCAGGAATGAACCTGGGTCTCCTGAGCCCTGGCCCAGGGGTCTGTCCCCTCCCCCATGACCCATGACATCAACGCAGGACAGATTACGGGACTGAGTTCCCTGCAGACCTGACCTCTGACGGCAGTGGTGACTTGCTCACTTACTTACTGGCTCCTGGGCACAGACAGGAACCAGCCTAGACGATCCCAAACGGAGACTGCCCACACGGTCCCATGGAAAGCAAGTAGCTCAGGCAACAGTGTAAATGCTTCATCCTTCTCCTGCTCACCCGCAAGGGCCAGGGCTGGGGTGCCCAGGGCCAGCAGCACAGGGGTGTCGAGTTGGCTCAGACCTCCTGCAGAGGGGGAACCCCAGTATGGGTCTCAGGCGCTGCTCCCCACTCACGAGGAGGTAGAAGCTGGAACTCACGGGGTGTGGGCTGAGCCAGAAGACCCATCAGTTTCTGCCACTGAGACCTGGACAGGTTCCTTCTGTTCTCCAGGCCTGAGTTGCCCCATCTATGCAATGGGAGCTGTCTCAGAGGGAGGAAAAGGGAAGTCCTCTGAATCCGGCATTTCCTGCCCCGCTGAAACCTTCTGTCTTTGTCTCCCTCCACCAGATGACTATGTCCACATCTCCAGCAAACCGTGTGACCTGCACTGTACCACCGTGGACGGCCAGCGGCAGCTCATGGTCCCCGCCCGCGACGGCACATCCTGCAAGCTCACTGACCTGCGAGGGGTTTGCGTGTCTGGAAAATGTGAGGTTGTTAAACGTTGTAGCAAAAGTACCGCCGGTCTCACTGTGCTGACTGCCCGCCCGCCTGTGGGAGGCAGTGGCGGCCCCGGGGCCTGGCCACAGCGCCCTCCCAGCAGCCCTCTCCCTCTCCCTTCCTGCAGCCCATCGGCTGTGACGGGGTGCTTTTCTCCACCCACACACTGGACAAGTGTGGCATCTGCCAGGGGGACGGTAGCAGCTGCACCCACGTGACGGGCAACTATCGCAAGGGGAATGCCCACCTTGGTAAGCCACAGCGCGCCCTGGAGTCCAAGCACAGCAGAGTCTGGGAATCGGGGGTCCTGAGTGTGCTCCTGTCTGCAGCCTCCTGTGTACCACTGGGCAAGTTCTTCCCCTCTAGGGGCACCTGATTCAGCATCCCAGGCCGGGTGAGCTGGCCTGGTGATTGTAGGCCTCCGTTGGCTTGCAAGAATGGGCAACCCTTTGTTGAGGACCTGCTGGGTACCAGTGGACACTTGGCTTGGGGGTCACATTTGCCCTTTGAGACAGCCTGCAGGGAGGTGTTAACAATGCACCTTTTTTTTTTTTTTGAGACAGAGTCTTGCTCTGTTGCCCAGGCTGGAGTGCAGTGGCTTGATCTGGGCTCACTGCAACCTCTGCCTCCCAGGTTCGAGCGATTCTCATTCCTCAGCCTCCCGAGGAGCTGGGACTACAGGCATGTGCCACCAAGCCTGGCTAATTTTTCTATTTTTAGTGGAGATGGGGTTTCACTATGTTGGCCAGGCTGGTTTCGAACTCCTGACCTCGAGCGATCCACCCGCCTCCGTCTCCCAAAGTGTTGGGGTTATAGGCATGAGCCACCATACCTGGCTAACACCACACTTTAAAAAGGGAGAAACTAAGGCCCAAGACCCATTCTCTCCACGGATATGAGGTTTGACCCTGGCACGCTGGATTCTGGGGCCTGAGTTTCAGAGGCTCCCTGTCGGCTCCAGGCTGACCCAGCCCAGAACCCCTCCTTCCCTTGGGCAGCACCTGTCCCCTTCCTAAGCTGCAGGCATTTGGCCCGATGTTTGTGTCCAGCTCTGTCCCAGCCCTCATCGGGGGTGGGCGTCTGTGCATGGGACAGCACTTTCTACTTTTGGAGGGATGTCACTTGTAATGCTTGGCATTAGATTGAACACACTTTTGGTTCTGAAGAAATGTTTGAGGAATGGAACTGGGTTATTGCAACCTCCAGACCTGGGAAGGCAGGACAGCTTCAGACCCACTTAGCAGATGGGGAAACCAAGGCCCAGAGTGGGAATAATCTGTCAAGGTCCCAATGAGGCCAGTTGACTCTGGACTAGAACCAGGCCTGTTAGGGCCACGGAGGACCCGACCGTGTCTTGAAGGTCGAGGGAATGACCTCAGCCTGCCACTGAGGGCTAACTGTGGCGTGAGTGTTGGCTCCAGGAGGTGCCAGTGGGAGGGCACTGGAGAGGGTGGGGCTTGGACATGGGACCTAGGGACGGGCGTGCCGGACTGACAAGGGACAGGCAGGGGTGTGAATAATGCGGGCTGGGTGTCCAGCAGGGCGAGGTGGGCAGAGGCCCTTTCTTTGGAGGCCTCGCTCTAGGAGCCGCTAAGGTGTCTGATTTTCCTCCCTTCCTCTCACAAACCTGCTCACACGGCCTCCTGCTGGACCCAGGGCATGCAGAGGGAGAGTGGGCATTGGGGCAGCACGTGTCTTGTAGGGCACGTAGTGTGTGCCAGGCACTGTGCACACAGTGAGGCCTGAGAGATAGGGCTCATGTCCTCGTGGAACTCAGCCTGGGGCCAAGGGGCTGACATGCAAACAGCGCCCCTCATTCTTCTCCATATTCACAAGGTAACTCATTCACGCCTGGCAACAGCTCTACAAGGCTGGCACTATTACTGTTGCTGAAATATACAGAAACAGTCAAAGAGAGGCTA
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GGGGGGCCCTGGGCTAGTACGGAGCCATCCACTGTCCAGACCACTGTCCCTGTGCTCACATGTGCTCAGCAATGCTGGGACGGGCGGACTCACTCTGCTCCTGGAACTTCAAGTGCAGCCTCAAGGTTTGGGGTCTCTGGTCGCAGCTCCACTTTACTCACAACATTCGTGCACCTGGTGCTCACAGAGACCCAGCAGTTGCCAGGCTTCCCCGTCCCATGAAACAGTACCCCCCACGCCATAAAACAGTTCCCTGGGTTGCTCTCGGAGCCCTTCTGCTCCAGCCCCCATCAGCTTCCTTGGGTAGCCGAGGCTGAAGAGGAGGTTCTGACTCTGACCAGGCAGCTCTCAGTGGGGCCCTGGGCAGTTGGAACCTGAACACCTTTCCAAGGACTGCAGGGCGTGAGGCTGGGGCACGCCGAGCTGGGATCTGGGCCTCCCAGGCTGGCTCGTGTGGCTTGCCTGGGCAGGGAAGGCAGAGCAGCTGGGGGTCTCTGTGTCTGTGTGTCTCAGGGGGTGTGTGCGCACGTGCAGGGAGTGAGGGGCTGGAGGGAGGCAGGTGGCCACCGCTTCTGTGTTGGCGTCACCTGGTCAGCTGCCCTCCTAGGGCAGTGCAGCCAGGGTTGGGGGAGGGGCATTTATGAGCTCCAGCATGAGAGGGACCCAGGTTTGAGCTCTGGCCCCGGCACGACTAAGCTGGGTCCCCTCCGAGGATGAGTCTCTTGTCTGCACGCTGGGTTCCTCTTTATGGAGTCAGGACCACGATCTTCCTGATTTACGCAGTGTGCATGGCCACGGACCGTGTGCCAGGCCCTGTCCCGTCACTGTAGACACACAGTCAGGGCCTGCTGAGGACACGGGCGAGGGGAGCACCCTTGCCAGCCATCCTAGGGTCATGTCCCCTCCACCGCAAGGCTGGGAGAAGGCGTGGTGGGGACTGGGAGGGTTGTGTCTAGAGTAGGCGGAGGGCTGGCGTGGGGGGCGGAGCTGCCCTTTCCTGCGTCCTTGCTCCCTCCTGAGAGCGCATGGGAGCGCGCAGGAGCCCTAGAGGCCACCCCGTGGGCCGTGGCCCCCGCACGGCTGTCCCGGCTGTCCCGGCTGTCCCGGCTGCAGCCACTTCCTGCTTAGCCTGGACAAAAATGCCTTTGTCGGGCCGAGTTCCTCCCGGAGCCTCCCTGTCCCTTCGCTTCCCAGGAGTGTCCGCCGGACGGGAGGAGCTTCCGCGAGGAGCAGTGCGTCTCCTTCAACTCCCACGTGTACAACGGGCGGACGCACCAGTGGAAGCCTCTGTACCCGGGTACCTGCCGCCCTGGGGACCCACCTTGCAGGGAGCTGACTGAGCTTTGGGGGTAGCCCTTCCGGCACCTGGGACCAAACTCGACGGGTGGGCAGGTGGGGAAATGGAGGTGGTCAGACGAAGAGCCAGGAATGAACCTGGGTCTCCTGAGCCCTGGCCCAGGGGTCTGTCCCCTCCCCCATGACCCATGACATCAACGCAGGACAGATTACGGGACTGAGTTCCCTGCAGACCTGACCTCTGACGGCAGTGGTGACTTGCTCACTTACTTACTGGCTCCTGGGCACAGACAGGAACCAGCCTAGACGATCCCAAACGGAGACTGCCCACACGGTCCCATGGAAAGCAAGTAGCTCAGGCAACAGTGTAAATGCTTCATCCTTCTCCTGCTCACCCGCAAGGGCCAGGGCTGGGGTGCCCAGGGCCAGCAGCACAGGGGTGTCGAGTTGGCTCAGACCTCCTGCAGAGGGGGAACCCCAGTATGGGTCTCAGGCGCTGCTCCCCACTCACGAGGAGGTAGAAGCTGGAACTCACGGGGTGTGGGCTGAGCCAGAAGACCCATCAGTTTCTGCCACTGAGACCTGGACAGGTTCCTTCTGTTCTCCAGGCCTGAGTTGCCCCATCTATGCAATGGGAGCTGTCTCAGAGGGAGGAAAAGGGAAGTCCTCTGAATCCGGCATTTCCTGCCCCGCTGAAACCTTCTGTCTTTGTCTCCCTCCACCAGATGACTATGTCCACATCTCCAGCAAACTGTGTGACCTGCACTGTACCACCGTGGACGGCCAGCGGCAGCTCATGGTCCCCGCCCGCGACGGCACATCCTGCAAGCTCACTGACCTGCGAGGGGTTTGCGTGTCTGGAAAATGTGAGGTTGTTAAACGTTGTAGCAAAAGTACCGCCGGTCTCACTGTGCTGACTGCCCGCCCGCCTGTGGGAGGCAGTGGCGGCCCCGGGGCCTGGCCACAGCGCCCTCCCAGCAGCCCTCTCCCTCTCCCTTCCTGCAGCCCATCGGCTGTGACGGGGTGCTTTTCTCCACCCACACACTGGACAAGTGTGGCATCTGCCAGGGGGACGGTAGCAGCTGCACCCACGTGACGGGCAACTATCGCAAGGGGAATGCCCACCTTGGTAAGCCACAGCGCGCCCTGGAGTCCAAGCACAGCAGAGTCTGGGAATCGGGGGTCCTGAGTGTGCTCCTGTCTGCAGCCTCCTGTGTACCACTGGGCAAGTTCTTCCCCTCTAGGGGCACCTGATTCAGCATCCCAGGCCGGGTGAGCTGGCCTGGTGATTGTAGGCCTCCGTTGGCTTGCAAGAATGGGCAACCCTTTGTTGAGGACCTGCTGGGTACCAGTGGACACTTGGCTTGGGGGTCACATTTGCCCTTTGAGACAGCCTGCAGGGAGGTGTTAACAATGCACCTTTTTTTTTTTTTTGAGACAGAGTCTTGCTCTGTTGCCCAGGCTGGAGTGCAGTGGCTTGATCTGGGCTCACTGCAACCTCTGCCTCCCAGGTTCGAGCGATTCTCATTCCTCAGCCTCCCGAGGAGCTGGGACTACAGGCATGTGCCACCAAGCCTGGCTAATTTTTCTATTTTTAGTGGAGATGGGGTTTCACTATGTTGGCCAGGCTGGTTTCGAACTCCTGACCTCGAGCGATCCACCCGCCTCCGTCTCCCAAAGTGTTGGGGTTATAGGCATGAGCCACCATACCTGGCTAACACCACACTTTAAAAAGGGAGAAACTAAGGCCCAAGACCCATTCTCTCCACGGATATGAGGTTTGACCCTGGCACGCTGGATTCTGGGGCCTGAGTTTCAGAGGCTCCCTGTCGGCTCCAGGCTGACCCAGCCCAGAACCCCTCCTTCCCTTGGGCAGCACCTGTCCCCTTCCTAAGCTGCAGGCATTTGGCCCGATGTTTGTGTCCAGCTCTGTCCCAGCCCTCATCGGGGGTGGGCGTCTGTGCATGGGACAGCACTTTCTACTTTTGGAGGGATGTCACTTGTAATGCTTGGCATTAGATTGAACACACTTTTGGTTCTGAAGAAATGTTTGAGGAATGGAACTGGGTTATTGCAACCTCCAGACCTGGGAAGGCAGGACAGCTTCAGACCCACTTAGCAGATGGGGAAACCAAGGCCCAGAGTGGGAATAATCTGTCAAGGTCCCAATGAGGCCAGTTGACTCTGGACTAGAACCAGGCCTGTTAGGGCCACGGAGGACCCGACCGTGTCTTGAAGGTCGAGGGAATGACCTCAGCCTGCCACTGAGGGCTAACTGTGGCGTGAGTGTTGGCTCCAGGAGGTGCCAGTGGGAGGGCACTGGAGAGGGTGGGGCTTGGACATGGGACCTAGGGACGGGCGTGCCGGACTGACAAGGGACAGGCAGGGGTGTGAATAATGCGGGCTGGGTGTCCAGCAGGGCGAGGTGGGCAGAGGCCCTTTCTTTGGAGGCCTCGCTCTAGGAGCCGCTAAGGTGTCTGATTTTCCTCCCTTCCTCTCACAAACCTGCTCACACGGCCTCCTGCTGGACCCAGGGCATGCAGAGGGAGAGTGGGCATTGGGGCAGCACGTGTCTTGTAGGGCACGTAGTGTGTGCCAGGCACTGTGCACACAGTGAGGCCTGAGAGATAGGGCTCATGTCCTCGTGGAACTCAGCCTGGGGCCAAGGGGCTGACATGCAAACAGCGCCCCTCATTCTTCTCCATATTCACAAGGTAACTCATTCACGCCTGGCAACAGCTCTACAAGGCTGGCACTATTACTGTTGCTGAAATATACAGAAACAGTCAAAGAGAGGCTA
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Task1_train_13453
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The gene ADAMTSL2 (ADAMTS like 2), on Chromosome 9, contains a mutation. Does this mutation cause a disorder, or is it a benign change?
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Pathogenic; Geleophysic dysplasia 1
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ATGTGCTCAGCAATGCTGGGACGGGCGGACTCACTCTGCTCCTGGAACTTCAAGTGCAGCCTCAAGGTTTGGGGTCTCTGGTCGCAGCTCCACTTTACTCACAACATTCGTGCACCTGGTGCTCACAGAGACCCAGCAGTTGCCAGGCTTCCCCGTCCCATGAAACAGTACCCCCCACGCCATAAAACAGTTCCCTGGGTTGCTCTCGGAGCCCTTCTGCTCCAGCCCCCATCAGCTTCCTTGGGTAGCCGAGGCTGAAGAGGAGGTTCTGACTCTGACCAGGCAGCTCTCAGTGGGGCCCTGGGCAGTTGGAACCTGAACACCTTTCCAAGGACTGCAGGGCGTGAGGCTGGGGCACGCCGAGCTGGGATCTGGGCCTCCCAGGCTGGCTCGTGTGGCTTGCCTGGGCAGGGAAGGCAGAGCAGCTGGGGGTCTCTGTGTCTGTGTGTCTCAGGGGGTGTGTGCGCACGTGCAGGGAGTGAGGGGCTGGAGGGAGGCAGGTGGCCACCGCTTCTGTGTTGGCGTCACCTGGTCAGCTGCCCTCCTAGGGCAGTGCAGCCAGGGTTGGGGGAGGGGCATTTATGAGCTCCAGCATGAGAGGGACCCAGGTTTGAGCTCTGGCCCCGGCACGACTAAGCTGGGTCCCCTCCGAGGATGAGTCTCTTGTCTGCACGCTGGGTTCCTCTTTATGGAGTCAGGACCACGATCTTCCTGATTTACGCAGTGTGCATGGCCACGGACCGTGTGCCAGGCCCTGTCCCGTCACTGTAGACACACAGTCAGGGCCTGCTGAGGACACGGGCGAGGGGAGCACCCTTGCCAGCCATCCTAGGGTCATGTCCCCTCCACCGCAAGGCTGGGAGAAGGCGTGGTGGGGACTGGGAGGGTTGTGTCTAGAGTAGGCGGAGGGCTGGCGTGGGGGGCGGAGCTGCCCTTTCCTGCGTCCTTGCTCCCTCCTGAGAGCGCATGGGAGCGCGCAGGAGCCCTAGAGGCCACCCCGTGGGCCGTGGCCCCCGCACGGCTGTCCCGGCTGTCCCGGCTGTCCCGGCTGCAGCCACTTCCTGCTTAGCCTGGACAAAAATGCCTTTGTCGGGCCGAGTTCCTCCCGGAGCCTCCCTGTCCCTTCGCTTCCCAGGAGTGTCCGCCGGACGGGAGGAGCTTCCGCGAGGAGCAGTGCGTCTCCTTCAACTCCCACGTGTACAACGGGCGGACGCACCAGTGGAAGCCTCTGTACCCGGGTACCTGCCGCCCTGGGGACCCACCTTGCAGGGAGCTGACTGAGCTTTGGGGGTAGCCCTTCCGGCACCTGGGACCAAACTCGACGGGTGGGCAGGTGGGGAAATGGAGGTGGTCAGACGAAGAGCCAGGAATGAACCTGGGTCTCCTGAGCCCTGGCCCAGGGGTCTGTCCCCTCCCCCATGACCCATGACATCAACGCAGGACAGATTACGGGACTGAGTTCCCTGCAGACCTGACCTCTGACGGCAGTGGTGACTTGCTCACTTACTTACTGGCTCCTGGGCACAGACAGGAACCAGCCTAGACGATCCCAAACGGAGACTGCCCACACGGTCCCATGGAAAGCAAGTAGCTCAGGCAACAGTGTAAATGCTTCATCCTTCTCCTGCTCACCCGCAAGGGCCAGGGCTGGGGTGCCCAGGGCCAGCAGCACAGGGGTGTCGAGTTGGCTCAGACCTCCTGCAGAGGGGGAACCCCAGTATGGGTCTCAGGCGCTGCTCCCCACTCACGAGGAGGTAGAAGCTGGAACTCACGGGGTGTGGGCTGAGCCAGAAGACCCATCAGTTTCTGCCACTGAGACCTGGACAGGTTCCTTCTGTTCTCCAGGCCTGAGTTGCCCCATCTATGCAATGGGAGCTGTCTCAGAGGGAGGAAAAGGGAAGTCCTCTGAATCCGGCATTTCCTGCCCCGCTGAAACCTTCTGTCTTTGTCTCCCTCCACCAGATGACTATGTCCACATCTCCAGCAAACCGTGTGACCTGCACTGTACCACCGTGGACGGCCAGCGGCAGCTCATGGTCCCCGCCCGCGACGGCACATCCTGCAAGCTCACTGACCTGCGAGGGGTTTGCGTGTCTGGAAAATGTGAGGTTGTTAAACGTTGTAGCAAAAGTACCGCCGGTCTCACTGTGCTGACTGCCCGCCCGCCTGTGGGAGGCAGTGGCGGCCCCGGGGCCTGGCCACAGCGCCCTCCCAGCAGCCCTCTCCCTCTCCCTTCCTGCAGCCCATCGGCTGTGACGGGGTGCTTTTCTCCACCCACACACTGGACAAGTGTGGCATCTGCCAGGGGGACGGTAGCAGCTGCACCCACGTGACGGGCAACTATCGCAAGGGGAATGCCCACCTTGGTAAGCCACAGCGCGCCCTGGAGTCCAAGCACAGCAGAGTCTGGGAATCGGGGGTCCTGAGTGTGCTCCTGTCTGCAGCCTCCTGTGTACCACTGGGCAAGTTCTTCCCCTCTAGGGGCACCTGATTCAGCATCCCAGGCCGGGTGAGCTGGCCTGGTGATTGTAGGCCTCCGTTGGCTTGCAAGAATGGGCAACCCTTTGTTGAGGACCTGCTGGGTACCAGTGGACACTTGGCTTGGGGGTCACATTTGCCCTTTGAGACAGCCTGCAGGGAGGTGTTAACAATGCACCTTTTTTTTTTTTTTGAGACAGAGTCTTGCTCTGTTGCCCAGGCTGGAGTGCAGTGGCTTGATCTGGGCTCACTGCAACCTCTGCCTCCCAGGTTCGAGCGATTCTCATTCCTCAGCCTCCCGAGGAGCTGGGACTACAGGCATGTGCCACCAAGCCTGGCTAATTTTTCTATTTTTAGTGGAGATGGGGTTTCACTATGTTGGCCAGGCTGGTTTCGAACTCCTGACCTCGAGCGATCCACCCGCCTCCGTCTCCCAAAGTGTTGGGGTTATAGGCATGAGCCACCATACCTGGCTAACACCACACTTTAAAAAGGGAGAAACTAAGGCCCAAGACCCATTCTCTCCACGGATATGAGGTTTGACCCTGGCACGCTGGATTCTGGGGCCTGAGTTTCAGAGGCTCCCTGTCGGCTCCAGGCTGACCCAGCCCAGAACCCCTCCTTCCCTTGGGCAGCACCTGTCCCCTTCCTAAGCTGCAGGCATTTGGCCCGATGTTTGTGTCCAGCTCTGTCCCAGCCCTCATCGGGGGTGGGCGTCTGTGCATGGGACAGCACTTTCTACTTTTGGAGGGATGTCACTTGTAATGCTTGGCATTAGATTGAACACACTTTTGGTTCTGAAGAAATGTTTGAGGAATGGAACTGGGTTATTGCAACCTCCAGACCTGGGAAGGCAGGACAGCTTCAGACCCACTTAGCAGATGGGGAAACCAAGGCCCAGAGTGGGAATAATCTGTCAAGGTCCCAATGAGGCCAGTTGACTCTGGACTAGAACCAGGCCTGTTAGGGCCACGGAGGACCCGACCGTGTCTTGAAGGTCGAGGGAATGACCTCAGCCTGCCACTGAGGGCTAACTGTGGCGTGAGTGTTGGCTCCAGGAGGTGCCAGTGGGAGGGCACTGGAGAGGGTGGGGCTTGGACATGGGACCTAGGGACGGGCGTGCCGGACTGACAAGGGACAGGCAGGGGTGTGAATAATGCGGGCTGGGTGTCCAGCAGGGCGAGGTGGGCAGAGGCCCTTTCTTTGGAGGCCTCGCTCTAGGAGCCGCTAAGGTGTCTGATTTTCCTCCCTTCCTCTCACAAACCTGCTCACACGGCCTCCTGCTGGACCCAGGGCATGCAGAGGGAGAGTGGGCATTGGGGCAGCACGTGTCTTGTAGGGCACGTAGTGTGTGCCAGGCACTGTGCACACAGTGAGGCCTGAGAGATAGGGCTCATGTCCTCGTGGAACTCAGCCTGGGGCCAAGGGGCTGACATGCAAACAGCGCCCCTCATTCTTCTCCATATTCACAAGGTAACTCATTCACGCCTGGCAACAGCTCTACAAGGCTGGCACTATTACTGTTGCTGAAATATACAGAAACAGTCAAAGAGAGGCTAAATAACTCATCCAAGGTCACACAGCCACAAGAGGCAGAACGGGGCCTGAACCCAGGCAG
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ATGTGCTCAGCAATGCTGGGACGGGCGGACTCACTCTGCTCCTGGAACTTCAAGTGCAGCCTCAAGGTTTGGGGTCTCTGGTCGCAGCTCCACTTTACTCACAACATTCGTGCACCTGGTGCTCACAGAGACCCAGCAGTTGCCAGGCTTCCCCGTCCCATGAAACAGTACCCCCCACGCCATAAAACAGTTCCCTGGGTTGCTCTCGGAGCCCTTCTGCTCCAGCCCCCATCAGCTTCCTTGGGTAGCCGAGGCTGAAGAGGAGGTTCTGACTCTGACCAGGCAGCTCTCAGTGGGGCCCTGGGCAGTTGGAACCTGAACACCTTTCCAAGGACTGCAGGGCGTGAGGCTGGGGCACGCCGAGCTGGGATCTGGGCCTCCCAGGCTGGCTCGTGTGGCTTGCCTGGGCAGGGAAGGCAGAGCAGCTGGGGGTCTCTGTGTCTGTGTGTCTCAGGGGGTGTGTGCGCACGTGCAGGGAGTGAGGGGCTGGAGGGAGGCAGGTGGCCACCGCTTCTGTGTTGGCGTCACCTGGTCAGCTGCCCTCCTAGGGCAGTGCAGCCAGGGTTGGGGGAGGGGCATTTATGAGCTCCAGCATGAGAGGGACCCAGGTTTGAGCTCTGGCCCCGGCACGACTAAGCTGGGTCCCCTCCGAGGATGAGTCTCTTGTCTGCACGCTGGGTTCCTCTTTATGGAGTCAGGACCACGATCTTCCTGATTTACGCAGTGTGCATGGCCACGGACCGTGTGCCAGGCCCTGTCCCGTCACTGTAGACACACAGTCAGGGCCTGCTGAGGACACGGGCGAGGGGAGCACCCTTGCCAGCCATCCTAGGGTCATGTCCCCTCCACCGCAAGGCTGGGAGAAGGCGTGGTGGGGACTGGGAGGGTTGTGTCTAGAGTAGGCGGAGGGCTGGCGTGGGGGGCGGAGCTGCCCTTTCCTGCGTCCTTGCTCCCTCCTGAGAGCGCATGGGAGCGCGCAGGAGCCCTAGAGGCCACCCCGTGGGCCGTGGCCCCCGCACGGCTGTCCCGGCTGTCCCGGCTGTCCCGGCTGCAGCCACTTCCTGCTTAGCCTGGACAAAAATGCCTTTGTCGGGCCGAGTTCCTCCCGGAGCCTCCCTGTCCCTTCGCTTCCCAGGAGTGTCCGCCGGACGGGAGGAGCTTCCGCGAGGAGCAGTGCGTCTCCTTCAACTCCCACGTGTACAACGGGCGGACGCACCAGTGGAAGCCTCTGTACCCGGGTACCTGCCGCCCTGGGGACCCACCTTGCAGGGAGCTGACTGAGCTTTGGGGGTAGCCCTTCCGGCACCTGGGACCAAACTCGACGGGTGGGCAGGTGGGGAAATGGAGGTGGTCAGACGAAGAGCCAGGAATGAACCTGGGTCTCCTGAGCCCTGGCCCAGGGGTCTGTCCCCTCCCCCATGACCCATGACATCAACGCAGGACAGATTACGGGACTGAGTTCCCTGCAGACCTGACCTCTGACGGCAGTGGTGACTTGCTCACTTACTTACTGGCTCCTGGGCACAGACAGGAACCAGCCTAGACGATCCCAAACGGAGACTGCCCACACGGTCCCATGGAAAGCAAGTAGCTCAGGCAACAGTGTAAATGCTTCATCCTTCTCCTGCTCACCCGCAAGGGCCAGGGCTGGGGTGCCCAGGGCCAGCAGCACAGGGGTGTCGAGTTGGCTCAGACCTCCTGCAGAGGGGGAACCCCAGTATGGGTCTCAGGCGCTGCTCCCCACTCACGAGGAGGTAGAAGCTGGAACTCACGGGGTGTGGGCTGAGCCAGAAGACCCATCAGTTTCTGCCACTGAGACCTGGACAGGTTCCTTCTGTTCTCCAGGCCTGAGTTGCCCCATCTATGCAATGGGAGCTGTCTCAGAGGGAGGAAAAGGGAAGTCCTCTGAATCCGGCATTTCCTGCCCCGCTGAAACCTTCTGTCTTTGTCTCCCTCCACCAGATGACTATGTCCACATCTCCAGCAAACCGTGTGACCTGCACTGTACCACCGTGGACGGCCAGCGGCAGCTCATGGTCCCCGCCCGCAACGGCACATCCTGCAAGCTCACTGACCTGCGAGGGGTTTGCGTGTCTGGAAAATGTGAGGTTGTTAAACGTTGTAGCAAAAGTACCGCCGGTCTCACTGTGCTGACTGCCCGCCCGCCTGTGGGAGGCAGTGGCGGCCCCGGGGCCTGGCCACAGCGCCCTCCCAGCAGCCCTCTCCCTCTCCCTTCCTGCAGCCCATCGGCTGTGACGGGGTGCTTTTCTCCACCCACACACTGGACAAGTGTGGCATCTGCCAGGGGGACGGTAGCAGCTGCACCCACGTGACGGGCAACTATCGCAAGGGGAATGCCCACCTTGGTAAGCCACAGCGCGCCCTGGAGTCCAAGCACAGCAGAGTCTGGGAATCGGGGGTCCTGAGTGTGCTCCTGTCTGCAGCCTCCTGTGTACCACTGGGCAAGTTCTTCCCCTCTAGGGGCACCTGATTCAGCATCCCAGGCCGGGTGAGCTGGCCTGGTGATTGTAGGCCTCCGTTGGCTTGCAAGAATGGGCAACCCTTTGTTGAGGACCTGCTGGGTACCAGTGGACACTTGGCTTGGGGGTCACATTTGCCCTTTGAGACAGCCTGCAGGGAGGTGTTAACAATGCACCTTTTTTTTTTTTTTGAGACAGAGTCTTGCTCTGTTGCCCAGGCTGGAGTGCAGTGGCTTGATCTGGGCTCACTGCAACCTCTGCCTCCCAGGTTCGAGCGATTCTCATTCCTCAGCCTCCCGAGGAGCTGGGACTACAGGCATGTGCCACCAAGCCTGGCTAATTTTTCTATTTTTAGTGGAGATGGGGTTTCACTATGTTGGCCAGGCTGGTTTCGAACTCCTGACCTCGAGCGATCCACCCGCCTCCGTCTCCCAAAGTGTTGGGGTTATAGGCATGAGCCACCATACCTGGCTAACACCACACTTTAAAAAGGGAGAAACTAAGGCCCAAGACCCATTCTCTCCACGGATATGAGGTTTGACCCTGGCACGCTGGATTCTGGGGCCTGAGTTTCAGAGGCTCCCTGTCGGCTCCAGGCTGACCCAGCCCAGAACCCCTCCTTCCCTTGGGCAGCACCTGTCCCCTTCCTAAGCTGCAGGCATTTGGCCCGATGTTTGTGTCCAGCTCTGTCCCAGCCCTCATCGGGGGTGGGCGTCTGTGCATGGGACAGCACTTTCTACTTTTGGAGGGATGTCACTTGTAATGCTTGGCATTAGATTGAACACACTTTTGGTTCTGAAGAAATGTTTGAGGAATGGAACTGGGTTATTGCAACCTCCAGACCTGGGAAGGCAGGACAGCTTCAGACCCACTTAGCAGATGGGGAAACCAAGGCCCAGAGTGGGAATAATCTGTCAAGGTCCCAATGAGGCCAGTTGACTCTGGACTAGAACCAGGCCTGTTAGGGCCACGGAGGACCCGACCGTGTCTTGAAGGTCGAGGGAATGACCTCAGCCTGCCACTGAGGGCTAACTGTGGCGTGAGTGTTGGCTCCAGGAGGTGCCAGTGGGAGGGCACTGGAGAGGGTGGGGCTTGGACATGGGACCTAGGGACGGGCGTGCCGGACTGACAAGGGACAGGCAGGGGTGTGAATAATGCGGGCTGGGTGTCCAGCAGGGCGAGGTGGGCAGAGGCCCTTTCTTTGGAGGCCTCGCTCTAGGAGCCGCTAAGGTGTCTGATTTTCCTCCCTTCCTCTCACAAACCTGCTCACACGGCCTCCTGCTGGACCCAGGGCATGCAGAGGGAGAGTGGGCATTGGGGCAGCACGTGTCTTGTAGGGCACGTAGTGTGTGCCAGGCACTGTGCACACAGTGAGGCCTGAGAGATAGGGCTCATGTCCTCGTGGAACTCAGCCTGGGGCCAAGGGGCTGACATGCAAACAGCGCCCCTCATTCTTCTCCATATTCACAAGGTAACTCATTCACGCCTGGCAACAGCTCTACAAGGCTGGCACTATTACTGTTGCTGAAATATACAGAAACAGTCAAAGAGAGGCTAAATAACTCATCCAAGGTCACACAGCCACAAGAGGCAGAACGGGGCCTGAACCCAGGCAG
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Task1_train_13454
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Mutation context: Chromosome 9, Gene ADAMTSL2 (ADAMTS like 2). Determine if this variant is likely to be benign or pathogenic. Mention the disease if applicable.
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Pathogenic; Abnormal facial shape
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ATGTGCTCAGCAATGCTGGGACGGGCGGACTCACTCTGCTCCTGGAACTTCAAGTGCAGCCTCAAGGTTTGGGGTCTCTGGTCGCAGCTCCACTTTACTCACAACATTCGTGCACCTGGTGCTCACAGAGACCCAGCAGTTGCCAGGCTTCCCCGTCCCATGAAACAGTACCCCCCACGCCATAAAACAGTTCCCTGGGTTGCTCTCGGAGCCCTTCTGCTCCAGCCCCCATCAGCTTCCTTGGGTAGCCGAGGCTGAAGAGGAGGTTCTGACTCTGACCAGGCAGCTCTCAGTGGGGCCCTGGGCAGTTGGAACCTGAACACCTTTCCAAGGACTGCAGGGCGTGAGGCTGGGGCACGCCGAGCTGGGATCTGGGCCTCCCAGGCTGGCTCGTGTGGCTTGCCTGGGCAGGGAAGGCAGAGCAGCTGGGGGTCTCTGTGTCTGTGTGTCTCAGGGGGTGTGTGCGCACGTGCAGGGAGTGAGGGGCTGGAGGGAGGCAGGTGGCCACCGCTTCTGTGTTGGCGTCACCTGGTCAGCTGCCCTCCTAGGGCAGTGCAGCCAGGGTTGGGGGAGGGGCATTTATGAGCTCCAGCATGAGAGGGACCCAGGTTTGAGCTCTGGCCCCGGCACGACTAAGCTGGGTCCCCTCCGAGGATGAGTCTCTTGTCTGCACGCTGGGTTCCTCTTTATGGAGTCAGGACCACGATCTTCCTGATTTACGCAGTGTGCATGGCCACGGACCGTGTGCCAGGCCCTGTCCCGTCACTGTAGACACACAGTCAGGGCCTGCTGAGGACACGGGCGAGGGGAGCACCCTTGCCAGCCATCCTAGGGTCATGTCCCCTCCACCGCAAGGCTGGGAGAAGGCGTGGTGGGGACTGGGAGGGTTGTGTCTAGAGTAGGCGGAGGGCTGGCGTGGGGGGCGGAGCTGCCCTTTCCTGCGTCCTTGCTCCCTCCTGAGAGCGCATGGGAGCGCGCAGGAGCCCTAGAGGCCACCCCGTGGGCCGTGGCCCCCGCACGGCTGTCCCGGCTGTCCCGGCTGTCCCGGCTGCAGCCACTTCCTGCTTAGCCTGGACAAAAATGCCTTTGTCGGGCCGAGTTCCTCCCGGAGCCTCCCTGTCCCTTCGCTTCCCAGGAGTGTCCGCCGGACGGGAGGAGCTTCCGCGAGGAGCAGTGCGTCTCCTTCAACTCCCACGTGTACAACGGGCGGACGCACCAGTGGAAGCCTCTGTACCCGGGTACCTGCCGCCCTGGGGACCCACCTTGCAGGGAGCTGACTGAGCTTTGGGGGTAGCCCTTCCGGCACCTGGGACCAAACTCGACGGGTGGGCAGGTGGGGAAATGGAGGTGGTCAGACGAAGAGCCAGGAATGAACCTGGGTCTCCTGAGCCCTGGCCCAGGGGTCTGTCCCCTCCCCCATGACCCATGACATCAACGCAGGACAGATTACGGGACTGAGTTCCCTGCAGACCTGACCTCTGACGGCAGTGGTGACTTGCTCACTTACTTACTGGCTCCTGGGCACAGACAGGAACCAGCCTAGACGATCCCAAACGGAGACTGCCCACACGGTCCCATGGAAAGCAAGTAGCTCAGGCAACAGTGTAAATGCTTCATCCTTCTCCTGCTCACCCGCAAGGGCCAGGGCTGGGGTGCCCAGGGCCAGCAGCACAGGGGTGTCGAGTTGGCTCAGACCTCCTGCAGAGGGGGAACCCCAGTATGGGTCTCAGGCGCTGCTCCCCACTCACGAGGAGGTAGAAGCTGGAACTCACGGGGTGTGGGCTGAGCCAGAAGACCCATCAGTTTCTGCCACTGAGACCTGGACAGGTTCCTTCTGTTCTCCAGGCCTGAGTTGCCCCATCTATGCAATGGGAGCTGTCTCAGAGGGAGGAAAAGGGAAGTCCTCTGAATCCGGCATTTCCTGCCCCGCTGAAACCTTCTGTCTTTGTCTCCCTCCACCAGATGACTATGTCCACATCTCCAGCAAACCGTGTGACCTGCACTGTACCACCGTGGACGGCCAGCGGCAGCTCATGGTCCCCGCCCGCGACGGCACATCCTGCAAGCTCACTGACCTGCGAGGGGTTTGCGTGTCTGGAAAATGTGAGGTTGTTAAACGTTGTAGCAAAAGTACCGCCGGTCTCACTGTGCTGACTGCCCGCCCGCCTGTGGGAGGCAGTGGCGGCCCCGGGGCCTGGCCACAGCGCCCTCCCAGCAGCCCTCTCCCTCTCCCTTCCTGCAGCCCATCGGCTGTGACGGGGTGCTTTTCTCCACCCACACACTGGACAAGTGTGGCATCTGCCAGGGGGACGGTAGCAGCTGCACCCACGTGACGGGCAACTATCGCAAGGGGAATGCCCACCTTGGTAAGCCACAGCGCGCCCTGGAGTCCAAGCACAGCAGAGTCTGGGAATCGGGGGTCCTGAGTGTGCTCCTGTCTGCAGCCTCCTGTGTACCACTGGGCAAGTTCTTCCCCTCTAGGGGCACCTGATTCAGCATCCCAGGCCGGGTGAGCTGGCCTGGTGATTGTAGGCCTCCGTTGGCTTGCAAGAATGGGCAACCCTTTGTTGAGGACCTGCTGGGTACCAGTGGACACTTGGCTTGGGGGTCACATTTGCCCTTTGAGACAGCCTGCAGGGAGGTGTTAACAATGCACCTTTTTTTTTTTTTTGAGACAGAGTCTTGCTCTGTTGCCCAGGCTGGAGTGCAGTGGCTTGATCTGGGCTCACTGCAACCTCTGCCTCCCAGGTTCGAGCGATTCTCATTCCTCAGCCTCCCGAGGAGCTGGGACTACAGGCATGTGCCACCAAGCCTGGCTAATTTTTCTATTTTTAGTGGAGATGGGGTTTCACTATGTTGGCCAGGCTGGTTTCGAACTCCTGACCTCGAGCGATCCACCCGCCTCCGTCTCCCAAAGTGTTGGGGTTATAGGCATGAGCCACCATACCTGGCTAACACCACACTTTAAAAAGGGAGAAACTAAGGCCCAAGACCCATTCTCTCCACGGATATGAGGTTTGACCCTGGCACGCTGGATTCTGGGGCCTGAGTTTCAGAGGCTCCCTGTCGGCTCCAGGCTGACCCAGCCCAGAACCCCTCCTTCCCTTGGGCAGCACCTGTCCCCTTCCTAAGCTGCAGGCATTTGGCCCGATGTTTGTGTCCAGCTCTGTCCCAGCCCTCATCGGGGGTGGGCGTCTGTGCATGGGACAGCACTTTCTACTTTTGGAGGGATGTCACTTGTAATGCTTGGCATTAGATTGAACACACTTTTGGTTCTGAAGAAATGTTTGAGGAATGGAACTGGGTTATTGCAACCTCCAGACCTGGGAAGGCAGGACAGCTTCAGACCCACTTAGCAGATGGGGAAACCAAGGCCCAGAGTGGGAATAATCTGTCAAGGTCCCAATGAGGCCAGTTGACTCTGGACTAGAACCAGGCCTGTTAGGGCCACGGAGGACCCGACCGTGTCTTGAAGGTCGAGGGAATGACCTCAGCCTGCCACTGAGGGCTAACTGTGGCGTGAGTGTTGGCTCCAGGAGGTGCCAGTGGGAGGGCACTGGAGAGGGTGGGGCTTGGACATGGGACCTAGGGACGGGCGTGCCGGACTGACAAGGGACAGGCAGGGGTGTGAATAATGCGGGCTGGGTGTCCAGCAGGGCGAGGTGGGCAGAGGCCCTTTCTTTGGAGGCCTCGCTCTAGGAGCCGCTAAGGTGTCTGATTTTCCTCCCTTCCTCTCACAAACCTGCTCACACGGCCTCCTGCTGGACCCAGGGCATGCAGAGGGAGAGTGGGCATTGGGGCAGCACGTGTCTTGTAGGGCACGTAGTGTGTGCCAGGCACTGTGCACACAGTGAGGCCTGAGAGATAGGGCTCATGTCCTCGTGGAACTCAGCCTGGGGCCAAGGGGCTGACATGCAAACAGCGCCCCTCATTCTTCTCCATATTCACAAGGTAACTCATTCACGCCTGGCAACAGCTCTACAAGGCTGGCACTATTACTGTTGCTGAAATATACAGAAACAGTCAAAGAGAGGCTAAATAACTCATCCAAGGTCACACAGCCACAAGAGGCAGAACGGGGCCTGAACCCAGGCAG
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ATGTGCTCAGCAATGCTGGGACGGGCGGACTCACTCTGCTCCTGGAACTTCAAGTGCAGCCTCAAGGTTTGGGGTCTCTGGTCGCAGCTCCACTTTACTCACAACATTCGTGCACCTGGTGCTCACAGAGACCCAGCAGTTGCCAGGCTTCCCCGTCCCATGAAACAGTACCCCCCACGCCATAAAACAGTTCCCTGGGTTGCTCTCGGAGCCCTTCTGCTCCAGCCCCCATCAGCTTCCTTGGGTAGCCGAGGCTGAAGAGGAGGTTCTGACTCTGACCAGGCAGCTCTCAGTGGGGCCCTGGGCAGTTGGAACCTGAACACCTTTCCAAGGACTGCAGGGCGTGAGGCTGGGGCACGCCGAGCTGGGATCTGGGCCTCCCAGGCTGGCTCGTGTGGCTTGCCTGGGCAGGGAAGGCAGAGCAGCTGGGGGTCTCTGTGTCTGTGTGTCTCAGGGGGTGTGTGCGCACGTGCAGGGAGTGAGGGGCTGGAGGGAGGCAGGTGGCCACCGCTTCTGTGTTGGCGTCACCTGGTCAGCTGCCCTCCTAGGGCAGTGCAGCCAGGGTTGGGGGAGGGGCATTTATGAGCTCCAGCATGAGAGGGACCCAGGTTTGAGCTCTGGCCCCGGCACGACTAAGCTGGGTCCCCTCCGAGGATGAGTCTCTTGTCTGCACGCTGGGTTCCTCTTTATGGAGTCAGGACCACGATCTTCCTGATTTACGCAGTGTGCATGGCCACGGACCGTGTGCCAGGCCCTGTCCCGTCACTGTAGACACACAGTCAGGGCCTGCTGAGGACACGGGCGAGGGGAGCACCCTTGCCAGCCATCCTAGGGTCATGTCCCCTCCACCGCAAGGCTGGGAGAAGGCGTGGTGGGGACTGGGAGGGTTGTGTCTAGAGTAGGCGGAGGGCTGGCGTGGGGGGCGGAGCTGCCCTTTCCTGCGTCCTTGCTCCCTCCTGAGAGCGCATGGGAGCGCGCAGGAGCCCTAGAGGCCACCCCGTGGGCCGTGGCCCCCGCACGGCTGTCCCGGCTGTCCCGGCTGTCCCGGCTGCAGCCACTTCCTGCTTAGCCTGGACAAAAATGCCTTTGTCGGGCCGAGTTCCTCCCGGAGCCTCCCTGTCCCTTCGCTTCCCAGGAGTGTCCGCCGGACGGGAGGAGCTTCCGCGAGGAGCAGTGCGTCTCCTTCAACTCCCACGTGTACAACGGGCGGACGCACCAGTGGAAGCCTCTGTACCCGGGTACCTGCCGCCCTGGGGACCCACCTTGCAGGGAGCTGACTGAGCTTTGGGGGTAGCCCTTCCGGCACCTGGGACCAAACTCGACGGGTGGGCAGGTGGGGAAATGGAGGTGGTCAGACGAAGAGCCAGGAATGAACCTGGGTCTCCTGAGCCCTGGCCCAGGGGTCTGTCCCCTCCCCCATGACCCATGACATCAACGCAGGACAGATTACGGGACTGAGTTCCCTGCAGACCTGACCTCTGACGGCAGTGGTGACTTGCTCACTTACTTACTGGCTCCTGGGCACAGACAGGAACCAGCCTAGACGATCCCAAACGGAGACTGCCCACACGGTCCCATGGAAAGCAAGTAGCTCAGGCAACAGTGTAAATGCTTCATCCTTCTCCTGCTCACCCGCAAGGGCCAGGGCTGGGGTGCCCAGGGCCAGCAGCACAGGGGTGTCGAGTTGGCTCAGACCTCCTGCAGAGGGGGAACCCCAGTATGGGTCTCAGGCGCTGCTCCCCACTCACGAGGAGGTAGAAGCTGGAACTCACGGGGTGTGGGCTGAGCCAGAAGACCCATCAGTTTCTGCCACTGAGACCTGGACAGGTTCCTTCTGTTCTCCAGGCCTGAGTTGCCCCATCTATGCAATGGGAGCTGTCTCAGAGGGAGGAAAAGGGAAGTCCTCTGAATCCGGCATTTCCTGCCCCGCTGAAACCTTCTGTCTTTGTCTCCCTCCACCAGATGACTATGTCCACATCTCCAGCAAACCGTGTGACCTGCACTGTACCACCGTGGACGGCCAGCGGCAGCTCATGGTCCCCGCCCGCAACGGCACATCCTGCAAGCTCACTGACCTGCGAGGGGTTTGCGTGTCTGGAAAATGTGAGGTTGTTAAACGTTGTAGCAAAAGTACCGCCGGTCTCACTGTGCTGACTGCCCGCCCGCCTGTGGGAGGCAGTGGCGGCCCCGGGGCCTGGCCACAGCGCCCTCCCAGCAGCCCTCTCCCTCTCCCTTCCTGCAGCCCATCGGCTGTGACGGGGTGCTTTTCTCCACCCACACACTGGACAAGTGTGGCATCTGCCAGGGGGACGGTAGCAGCTGCACCCACGTGACGGGCAACTATCGCAAGGGGAATGCCCACCTTGGTAAGCCACAGCGCGCCCTGGAGTCCAAGCACAGCAGAGTCTGGGAATCGGGGGTCCTGAGTGTGCTCCTGTCTGCAGCCTCCTGTGTACCACTGGGCAAGTTCTTCCCCTCTAGGGGCACCTGATTCAGCATCCCAGGCCGGGTGAGCTGGCCTGGTGATTGTAGGCCTCCGTTGGCTTGCAAGAATGGGCAACCCTTTGTTGAGGACCTGCTGGGTACCAGTGGACACTTGGCTTGGGGGTCACATTTGCCCTTTGAGACAGCCTGCAGGGAGGTGTTAACAATGCACCTTTTTTTTTTTTTTGAGACAGAGTCTTGCTCTGTTGCCCAGGCTGGAGTGCAGTGGCTTGATCTGGGCTCACTGCAACCTCTGCCTCCCAGGTTCGAGCGATTCTCATTCCTCAGCCTCCCGAGGAGCTGGGACTACAGGCATGTGCCACCAAGCCTGGCTAATTTTTCTATTTTTAGTGGAGATGGGGTTTCACTATGTTGGCCAGGCTGGTTTCGAACTCCTGACCTCGAGCGATCCACCCGCCTCCGTCTCCCAAAGTGTTGGGGTTATAGGCATGAGCCACCATACCTGGCTAACACCACACTTTAAAAAGGGAGAAACTAAGGCCCAAGACCCATTCTCTCCACGGATATGAGGTTTGACCCTGGCACGCTGGATTCTGGGGCCTGAGTTTCAGAGGCTCCCTGTCGGCTCCAGGCTGACCCAGCCCAGAACCCCTCCTTCCCTTGGGCAGCACCTGTCCCCTTCCTAAGCTGCAGGCATTTGGCCCGATGTTTGTGTCCAGCTCTGTCCCAGCCCTCATCGGGGGTGGGCGTCTGTGCATGGGACAGCACTTTCTACTTTTGGAGGGATGTCACTTGTAATGCTTGGCATTAGATTGAACACACTTTTGGTTCTGAAGAAATGTTTGAGGAATGGAACTGGGTTATTGCAACCTCCAGACCTGGGAAGGCAGGACAGCTTCAGACCCACTTAGCAGATGGGGAAACCAAGGCCCAGAGTGGGAATAATCTGTCAAGGTCCCAATGAGGCCAGTTGACTCTGGACTAGAACCAGGCCTGTTAGGGCCACGGAGGACCCGACCGTGTCTTGAAGGTCGAGGGAATGACCTCAGCCTGCCACTGAGGGCTAACTGTGGCGTGAGTGTTGGCTCCAGGAGGTGCCAGTGGGAGGGCACTGGAGAGGGTGGGGCTTGGACATGGGACCTAGGGACGGGCGTGCCGGACTGACAAGGGACAGGCAGGGGTGTGAATAATGCGGGCTGGGTGTCCAGCAGGGCGAGGTGGGCAGAGGCCCTTTCTTTGGAGGCCTCGCTCTAGGAGCCGCTAAGGTGTCTGATTTTCCTCCCTTCCTCTCACAAACCTGCTCACACGGCCTCCTGCTGGACCCAGGGCATGCAGAGGGAGAGTGGGCATTGGGGCAGCACGTGTCTTGTAGGGCACGTAGTGTGTGCCAGGCACTGTGCACACAGTGAGGCCTGAGAGATAGGGCTCATGTCCTCGTGGAACTCAGCCTGGGGCCAAGGGGCTGACATGCAAACAGCGCCCCTCATTCTTCTCCATATTCACAAGGTAACTCATTCACGCCTGGCAACAGCTCTACAAGGCTGGCACTATTACTGTTGCTGAAATATACAGAAACAGTCAAAGAGAGGCTAAATAACTCATCCAAGGTCACACAGCCACAAGAGGCAGAACGGGGCCTGAACCCAGGCAG
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Task1_train_13455
|
This alteration occurs within gene ADAMTSL2 (ADAMTS like 2) located on Chromosome 9. Is it associated with a disease or is it a benign variant?
|
Pathogenic; Geleophysic dysplasia 1
|
GGCCCTGGGCAGTTGGAACCTGAACACCTTTCCAAGGACTGCAGGGCGTGAGGCTGGGGCACGCCGAGCTGGGATCTGGGCCTCCCAGGCTGGCTCGTGTGGCTTGCCTGGGCAGGGAAGGCAGAGCAGCTGGGGGTCTCTGTGTCTGTGTGTCTCAGGGGGTGTGTGCGCACGTGCAGGGAGTGAGGGGCTGGAGGGAGGCAGGTGGCCACCGCTTCTGTGTTGGCGTCACCTGGTCAGCTGCCCTCCTAGGGCAGTGCAGCCAGGGTTGGGGGAGGGGCATTTATGAGCTCCAGCATGAGAGGGACCCAGGTTTGAGCTCTGGCCCCGGCACGACTAAGCTGGGTCCCCTCCGAGGATGAGTCTCTTGTCTGCACGCTGGGTTCCTCTTTATGGAGTCAGGACCACGATCTTCCTGATTTACGCAGTGTGCATGGCCACGGACCGTGTGCCAGGCCCTGTCCCGTCACTGTAGACACACAGTCAGGGCCTGCTGAGGACACGGGCGAGGGGAGCACCCTTGCCAGCCATCCTAGGGTCATGTCCCCTCCACCGCAAGGCTGGGAGAAGGCGTGGTGGGGACTGGGAGGGTTGTGTCTAGAGTAGGCGGAGGGCTGGCGTGGGGGGCGGAGCTGCCCTTTCCTGCGTCCTTGCTCCCTCCTGAGAGCGCATGGGAGCGCGCAGGAGCCCTAGAGGCCACCCCGTGGGCCGTGGCCCCCGCACGGCTGTCCCGGCTGTCCCGGCTGTCCCGGCTGCAGCCACTTCCTGCTTAGCCTGGACAAAAATGCCTTTGTCGGGCCGAGTTCCTCCCGGAGCCTCCCTGTCCCTTCGCTTCCCAGGAGTGTCCGCCGGACGGGAGGAGCTTCCGCGAGGAGCAGTGCGTCTCCTTCAACTCCCACGTGTACAACGGGCGGACGCACCAGTGGAAGCCTCTGTACCCGGGTACCTGCCGCCCTGGGGACCCACCTTGCAGGGAGCTGACTGAGCTTTGGGGGTAGCCCTTCCGGCACCTGGGACCAAACTCGACGGGTGGGCAGGTGGGGAAATGGAGGTGGTCAGACGAAGAGCCAGGAATGAACCTGGGTCTCCTGAGCCCTGGCCCAGGGGTCTGTCCCCTCCCCCATGACCCATGACATCAACGCAGGACAGATTACGGGACTGAGTTCCCTGCAGACCTGACCTCTGACGGCAGTGGTGACTTGCTCACTTACTTACTGGCTCCTGGGCACAGACAGGAACCAGCCTAGACGATCCCAAACGGAGACTGCCCACACGGTCCCATGGAAAGCAAGTAGCTCAGGCAACAGTGTAAATGCTTCATCCTTCTCCTGCTCACCCGCAAGGGCCAGGGCTGGGGTGCCCAGGGCCAGCAGCACAGGGGTGTCGAGTTGGCTCAGACCTCCTGCAGAGGGGGAACCCCAGTATGGGTCTCAGGCGCTGCTCCCCACTCACGAGGAGGTAGAAGCTGGAACTCACGGGGTGTGGGCTGAGCCAGAAGACCCATCAGTTTCTGCCACTGAGACCTGGACAGGTTCCTTCTGTTCTCCAGGCCTGAGTTGCCCCATCTATGCAATGGGAGCTGTCTCAGAGGGAGGAAAAGGGAAGTCCTCTGAATCCGGCATTTCCTGCCCCGCTGAAACCTTCTGTCTTTGTCTCCCTCCACCAGATGACTATGTCCACATCTCCAGCAAACCGTGTGACCTGCACTGTACCACCGTGGACGGCCAGCGGCAGCTCATGGTCCCCGCCCGCGACGGCACATCCTGCAAGCTCACTGACCTGCGAGGGGTTTGCGTGTCTGGAAAATGTGAGGTTGTTAAACGTTGTAGCAAAAGTACCGCCGGTCTCACTGTGCTGACTGCCCGCCCGCCTGTGGGAGGCAGTGGCGGCCCCGGGGCCTGGCCACAGCGCCCTCCCAGCAGCCCTCTCCCTCTCCCTTCCTGCAGCCCATCGGCTGTGACGGGGTGCTTTTCTCCACCCACACACTGGACAAGTGTGGCATCTGCCAGGGGGACGGTAGCAGCTGCACCCACGTGACGGGCAACTATCGCAAGGGGAATGCCCACCTTGGTAAGCCACAGCGCGCCCTGGAGTCCAAGCACAGCAGAGTCTGGGAATCGGGGGTCCTGAGTGTGCTCCTGTCTGCAGCCTCCTGTGTACCACTGGGCAAGTTCTTCCCCTCTAGGGGCACCTGATTCAGCATCCCAGGCCGGGTGAGCTGGCCTGGTGATTGTAGGCCTCCGTTGGCTTGCAAGAATGGGCAACCCTTTGTTGAGGACCTGCTGGGTACCAGTGGACACTTGGCTTGGGGGTCACATTTGCCCTTTGAGACAGCCTGCAGGGAGGTGTTAACAATGCACCTTTTTTTTTTTTTTGAGACAGAGTCTTGCTCTGTTGCCCAGGCTGGAGTGCAGTGGCTTGATCTGGGCTCACTGCAACCTCTGCCTCCCAGGTTCGAGCGATTCTCATTCCTCAGCCTCCCGAGGAGCTGGGACTACAGGCATGTGCCACCAAGCCTGGCTAATTTTTCTATTTTTAGTGGAGATGGGGTTTCACTATGTTGGCCAGGCTGGTTTCGAACTCCTGACCTCGAGCGATCCACCCGCCTCCGTCTCCCAAAGTGTTGGGGTTATAGGCATGAGCCACCATACCTGGCTAACACCACACTTTAAAAAGGGAGAAACTAAGGCCCAAGACCCATTCTCTCCACGGATATGAGGTTTGACCCTGGCACGCTGGATTCTGGGGCCTGAGTTTCAGAGGCTCCCTGTCGGCTCCAGGCTGACCCAGCCCAGAACCCCTCCTTCCCTTGGGCAGCACCTGTCCCCTTCCTAAGCTGCAGGCATTTGGCCCGATGTTTGTGTCCAGCTCTGTCCCAGCCCTCATCGGGGGTGGGCGTCTGTGCATGGGACAGCACTTTCTACTTTTGGAGGGATGTCACTTGTAATGCTTGGCATTAGATTGAACACACTTTTGGTTCTGAAGAAATGTTTGAGGAATGGAACTGGGTTATTGCAACCTCCAGACCTGGGAAGGCAGGACAGCTTCAGACCCACTTAGCAGATGGGGAAACCAAGGCCCAGAGTGGGAATAATCTGTCAAGGTCCCAATGAGGCCAGTTGACTCTGGACTAGAACCAGGCCTGTTAGGGCCACGGAGGACCCGACCGTGTCTTGAAGGTCGAGGGAATGACCTCAGCCTGCCACTGAGGGCTAACTGTGGCGTGAGTGTTGGCTCCAGGAGGTGCCAGTGGGAGGGCACTGGAGAGGGTGGGGCTTGGACATGGGACCTAGGGACGGGCGTGCCGGACTGACAAGGGACAGGCAGGGGTGTGAATAATGCGGGCTGGGTGTCCAGCAGGGCGAGGTGGGCAGAGGCCCTTTCTTTGGAGGCCTCGCTCTAGGAGCCGCTAAGGTGTCTGATTTTCCTCCCTTCCTCTCACAAACCTGCTCACACGGCCTCCTGCTGGACCCAGGGCATGCAGAGGGAGAGTGGGCATTGGGGCAGCACGTGTCTTGTAGGGCACGTAGTGTGTGCCAGGCACTGTGCACACAGTGAGGCCTGAGAGATAGGGCTCATGTCCTCGTGGAACTCAGCCTGGGGCCAAGGGGCTGACATGCAAACAGCGCCCCTCATTCTTCTCCATATTCACAAGGTAACTCATTCACGCCTGGCAACAGCTCTACAAGGCTGGCACTATTACTGTTGCTGAAATATACAGAAACAGTCAAAGAGAGGCTAAATAACTCATCCAAGGTCACACAGCCACAAGAGGCAGAACGGGGCCTGAACCCAGGCAGCCTACTCTTGGCCTGTGATCCTCCCAGCTGAGCCACACTCTTTCCCCGGACGAACTGTGCTTGGTAACCACGCTGGGGGCTGTGGGATGGGCTGGGGTATTAAATGCTCAAGAATCTTGTGAGCTGCTTGCTAATTTGAAAATTAAAGTATAACAGTCTATATTTAAATACATTATATTTAAAACAAAGTCACCATTTTCTAATCCTTTAGTGTCTATAACTATTTTTTTTTTTGAGACGGAGTTTTGTTCTTGTTGCCCAGGCTGGAGTGCAATGATGCGATCTCGGCTTTCTGC
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GGCCCTGGGCAGTTGGAACCTGAACACCTTTCCAAGGACTGCAGGGCGTGAGGCTGGGGCACGCCGAGCTGGGATCTGGGCCTCCCAGGCTGGCTCGTGTGGCTTGCCTGGGCAGGGAAGGCAGAGCAGCTGGGGGTCTCTGTGTCTGTGTGTCTCAGGGGGTGTGTGCGCACGTGCAGGGAGTGAGGGGCTGGAGGGAGGCAGGTGGCCACCGCTTCTGTGTTGGCGTCACCTGGTCAGCTGCCCTCCTAGGGCAGTGCAGCCAGGGTTGGGGGAGGGGCATTTATGAGCTCCAGCATGAGAGGGACCCAGGTTTGAGCTCTGGCCCCGGCACGACTAAGCTGGGTCCCCTCCGAGGATGAGTCTCTTGTCTGCACGCTGGGTTCCTCTTTATGGAGTCAGGACCACGATCTTCCTGATTTACGCAGTGTGCATGGCCACGGACCGTGTGCCAGGCCCTGTCCCGTCACTGTAGACACACAGTCAGGGCCTGCTGAGGACACGGGCGAGGGGAGCACCCTTGCCAGCCATCCTAGGGTCATGTCCCCTCCACCGCAAGGCTGGGAGAAGGCGTGGTGGGGACTGGGAGGGTTGTGTCTAGAGTAGGCGGAGGGCTGGCGTGGGGGGCGGAGCTGCCCTTTCCTGCGTCCTTGCTCCCTCCTGAGAGCGCATGGGAGCGCGCAGGAGCCCTAGAGGCCACCCCGTGGGCCGTGGCCCCCGCACGGCTGTCCCGGCTGTCCCGGCTGTCCCGGCTGCAGCCACTTCCTGCTTAGCCTGGACAAAAATGCCTTTGTCGGGCCGAGTTCCTCCCGGAGCCTCCCTGTCCCTTCGCTTCCCAGGAGTGTCCGCCGGACGGGAGGAGCTTCCGCGAGGAGCAGTGCGTCTCCTTCAACTCCCACGTGTACAACGGGCGGACGCACCAGTGGAAGCCTCTGTACCCGGGTACCTGCCGCCCTGGGGACCCACCTTGCAGGGAGCTGACTGAGCTTTGGGGGTAGCCCTTCCGGCACCTGGGACCAAACTCGACGGGTGGGCAGGTGGGGAAATGGAGGTGGTCAGACGAAGAGCCAGGAATGAACCTGGGTCTCCTGAGCCCTGGCCCAGGGGTCTGTCCCCTCCCCCATGACCCATGACATCAACGCAGGACAGATTACGGGACTGAGTTCCCTGCAGACCTGACCTCTGACGGCAGTGGTGACTTGCTCACTTACTTACTGGCTCCTGGGCACAGACAGGAACCAGCCTAGACGATCCCAAACGGAGACTGCCCACACGGTCCCATGGAAAGCAAGTAGCTCAGGCAACAGTGTAAATGCTTCATCCTTCTCCTGCTCACCCGCAAGGGCCAGGGCTGGGGTGCCCAGGGCCAGCAGCACAGGGGTGTCGAGTTGGCTCAGACCTCCTGCAGAGGGGGAACCCCAGTATGGGTCTCAGGCGCTGCTCCCCACTCACGAGGAGGTAGAAGCTGGAACTCACGGGGTGTGGGCTGAGCCAGAAGACCCATCAGTTTCTGCCACTGAGACCTGGACAGGTTCCTTCTGTTCTCCAGGCCTGAGTTGCCCCATCTATGCAATGGGAGCTGTCTCAGAGGGAGGAAAAGGGAAGTCCTCTGAATCCGGCATTTCCTGCCCCGCTGAAACCTTCTGTCTTTGTCTCCCTCCACCAGATGACTATGTCCACATCTCCAGCAAACCGTGTGACCTGCACTGTACCACCGTGGACGGCCAGCGGCAGCTCATGGTCCCCGCCCGCGACGGCACATCCTGCAAGCTCACTGACCTGCGAGGGGTTTGCGTGTCTGGAAAATGTGAGGTTGTTAAACGTTGTAGCAAAAGTACCGCCGGTCTCACTGTGCTGACTGCCCGCCCGCCTGTGGGAGGCAGTGGCGGCCCCGGGGCCTGGCCACAGCGCCCTCCCAGCAGCCCTCTCCCTCTCCCTTCCTGCAGCCCATCGGCTGTGACGGGGTGCTTTTCTCCACCCACACACTGGACAAGTGTGGCATCTGCCAGGGGGACGGTAGCAGCTGCACCCACGTGACGGGCAACTATTGCAAGGGGAATGCCCACCTTGGTAAGCCACAGCGCGCCCTGGAGTCCAAGCACAGCAGAGTCTGGGAATCGGGGGTCCTGAGTGTGCTCCTGTCTGCAGCCTCCTGTGTACCACTGGGCAAGTTCTTCCCCTCTAGGGGCACCTGATTCAGCATCCCAGGCCGGGTGAGCTGGCCTGGTGATTGTAGGCCTCCGTTGGCTTGCAAGAATGGGCAACCCTTTGTTGAGGACCTGCTGGGTACCAGTGGACACTTGGCTTGGGGGTCACATTTGCCCTTTGAGACAGCCTGCAGGGAGGTGTTAACAATGCACCTTTTTTTTTTTTTTGAGACAGAGTCTTGCTCTGTTGCCCAGGCTGGAGTGCAGTGGCTTGATCTGGGCTCACTGCAACCTCTGCCTCCCAGGTTCGAGCGATTCTCATTCCTCAGCCTCCCGAGGAGCTGGGACTACAGGCATGTGCCACCAAGCCTGGCTAATTTTTCTATTTTTAGTGGAGATGGGGTTTCACTATGTTGGCCAGGCTGGTTTCGAACTCCTGACCTCGAGCGATCCACCCGCCTCCGTCTCCCAAAGTGTTGGGGTTATAGGCATGAGCCACCATACCTGGCTAACACCACACTTTAAAAAGGGAGAAACTAAGGCCCAAGACCCATTCTCTCCACGGATATGAGGTTTGACCCTGGCACGCTGGATTCTGGGGCCTGAGTTTCAGAGGCTCCCTGTCGGCTCCAGGCTGACCCAGCCCAGAACCCCTCCTTCCCTTGGGCAGCACCTGTCCCCTTCCTAAGCTGCAGGCATTTGGCCCGATGTTTGTGTCCAGCTCTGTCCCAGCCCTCATCGGGGGTGGGCGTCTGTGCATGGGACAGCACTTTCTACTTTTGGAGGGATGTCACTTGTAATGCTTGGCATTAGATTGAACACACTTTTGGTTCTGAAGAAATGTTTGAGGAATGGAACTGGGTTATTGCAACCTCCAGACCTGGGAAGGCAGGACAGCTTCAGACCCACTTAGCAGATGGGGAAACCAAGGCCCAGAGTGGGAATAATCTGTCAAGGTCCCAATGAGGCCAGTTGACTCTGGACTAGAACCAGGCCTGTTAGGGCCACGGAGGACCCGACCGTGTCTTGAAGGTCGAGGGAATGACCTCAGCCTGCCACTGAGGGCTAACTGTGGCGTGAGTGTTGGCTCCAGGAGGTGCCAGTGGGAGGGCACTGGAGAGGGTGGGGCTTGGACATGGGACCTAGGGACGGGCGTGCCGGACTGACAAGGGACAGGCAGGGGTGTGAATAATGCGGGCTGGGTGTCCAGCAGGGCGAGGTGGGCAGAGGCCCTTTCTTTGGAGGCCTCGCTCTAGGAGCCGCTAAGGTGTCTGATTTTCCTCCCTTCCTCTCACAAACCTGCTCACACGGCCTCCTGCTGGACCCAGGGCATGCAGAGGGAGAGTGGGCATTGGGGCAGCACGTGTCTTGTAGGGCACGTAGTGTGTGCCAGGCACTGTGCACACAGTGAGGCCTGAGAGATAGGGCTCATGTCCTCGTGGAACTCAGCCTGGGGCCAAGGGGCTGACATGCAAACAGCGCCCCTCATTCTTCTCCATATTCACAAGGTAACTCATTCACGCCTGGCAACAGCTCTACAAGGCTGGCACTATTACTGTTGCTGAAATATACAGAAACAGTCAAAGAGAGGCTAAATAACTCATCCAAGGTCACACAGCCACAAGAGGCAGAACGGGGCCTGAACCCAGGCAGCCTACTCTTGGCCTGTGATCCTCCCAGCTGAGCCACACTCTTTCCCCGGACGAACTGTGCTTGGTAACCACGCTGGGGGCTGTGGGATGGGCTGGGGTATTAAATGCTCAAGAATCTTGTGAGCTGCTTGCTAATTTGAAAATTAAAGTATAACAGTCTATATTTAAATACATTATATTTAAAACAAAGTCACCATTTTCTAATCCTTTAGTGTCTATAACTATTTTTTTTTTTGAGACGGAGTTTTGTTCTTGTTGCCCAGGCTGGAGTGCAATGATGCGATCTCGGCTTTCTGC
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Task1_train_13456
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This is a variant in ADAMTSL2 (ADAMTS like 2), located on Chromosome 9. Is this mutation a likely cause of disease or not?
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Pathogenic; Geleophysic dysplasia 1
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TGTTCGCGCACCTGCGGAGAGGGCTACCAGTTCCGCGTCGTGCGCTGCTGGAAGATGCTCTCGCCCGGCTTCGACAGCTCCGTGTACAGCGACCTGTGCGAGGCAGCCGAGGCCGTGCGGCCCGAGGAACGCAAGACCTGCCGGAACCCCGCCTGCGGGCCCCAGTGGGAGATGTCGGAGTGGTCCGAGGTGAGTGCCTGCGGGAGCAAGCCGGGGGTCGGGAAGAGCTGGGGAGCTGGGCTTGGGAGATGGAGGTGGCTACACCTGTGTCACACCCCCCCTGCCCCCTCCCCCTGCCGCCCCAGTGCACTGCCAAGTGTGGGGAGCGCAGTGTGGTGACCAGGGACATCCGCTGCTCGGAGGATGAGAAGCTGTGTGACCCCAACACCAGGCCTGTAGGGGAGAAGAACTGCACGGGCCCGCCCTGTGACCGGCAGTGGACCGTCTCCGACTGGGGACCGGTGAGGCCTGCACTGAGGGGTGGCTGGGCGTGCGGCTGGTGAGGGGACCCAGAGCTTTGCCTTGATGTGCCTCAGTTTCCATTTTTTTCCGAGGCAAGGGTGTGAGGTCAAGAATGTCCAACCAGCCTTCTCCCATGTTATTATAGGAATCAAAACTTCTCTCCAAACACGTGGCCAGCATCACCTTCCCTCTATCACCTGTTTATCTCTCTGTATCTCTCTCTGCCTTTGTCTCCCTGTGTGTGTCTGTGTCTCTGTTCCTCTGTTGGTCTGTCTCTGTCTCCCCGTCTCTGTTTGTCTCCGAGTCTCTCTGTCTGTCTCCCCATCTCTGTCTCTCTGTGTCTGTCTTTGTCTCTTTCCCTGTCTCTGTCTCTCTCATCGAGAGAGATGCTCAGATGCTAGCTGGGGTCGCCTCTGGGTGGTGGGTGCACAGATGATCTTTTTAAGTGTGCTTTTCTCTGTGTGCTTTTCATCAAGCATGCATTATTTCTGTAATTAGAATAGAAAATGTTATTTAAAAAGTGGTTACCATGGCAACCGCTTCGACACTGCCTGGGAGCCACTCCTCTCCCTTGGGACTGACATCCAGGGCCCCTCCTGGTGTGGCTGCCTCTCACTGGATGTCCCCTGCCTGTCCTCTCCCCTGCAGTGCAGTGGAAGCTGCGGGCAAGGCCGCACCATCAGGCACGTGTACTGCAAGACCAGCGACGGACGGGTAGTACCTGAGTCCCAGTGCCAGATGGAGACCAAGCCTCTGGCCATCCACCCCTGTGGGGACAAAAACTGTCCCGCCCACTGGCTGGCCCAGGACTGGGAGCGGGTGAGTGCCCCAGAGCCCGCGGAAGGGCCTCCTGGTATCTGGAGAGCATTTGGCCAGAGAGGAGAGCCAGATGGCTGGGACCACAGATGGGTGAAAAAGAGGAATTCATTGCAAATTATGAAGGGACAATTCCCTAAAAATTAATTTAGAATACAAAAGGCTTAAAAGGTAGGAAAACACCTTACAAGTCCCCAAATCTCAATTTTGCATGGCTCAGTGGTACGTGCAGAATTGGCATTGCCCCCAGCCTGGGCCCCCAAGTCCCTGGGACGCAGAAAGCTAGGGACAGGGGTTGTTTTGGCTGCCTGCTCCTGGCCCAGGGGCCTTTGCGACCTCTGATCGTGACCAGTGTGTCTTCCGCACCCACCTGTCATCGTCACCAACTTGCCATTTCAGACGAGTTGCTCTCCACAAATTGCTTTCAACCAGCAGCTCCCGGCAGGTCACTAAACCGGATAATCTCGAGCCAAATTGTTTTCTGCTAAATTGATTTTGGCCAAATCATCACTGGCCAGATTGTCATTAGCCAATTTGTTTCAAAACAGATGGTTATGTGCTAAATTGCTTTTGATCAAATCCATCTGGGGCCAAATGGTTATCGAACAAAGAGTTTCCAGCCAGTTTGTTATGCACTGGAGCATTCTCACCCAATTGCTATTGACCAGCCCGTTGTCACCAGAGTCGCCGTGGGCCCTGTGTGTAGGGTCCTGCTGGGCCCTGGCGCTGACCCGCTCCCTCTGCCCCGGCCTCAGTGCAACACCACCTGCGGGCGCGGGGTCAAGAAGCGGCTGGTGCTCTGCATGGAGCTGGCCAACGGGAAGCCGCAGACGCGCAGTGGCCCCGAGTGCGGGCTCGCCAAGAAGCCTCCCGAGGAGAGCACGTGTTTCGAGAGGCCCTGCTTCAAGTGGTACACCAGCCCCTGGTCAGAGGTGAGCTCCCAGCCGGCCCCTCTGAGGTTGCCTGAGGCCAGACCTGAATGTCGATCCCGCCCCTCCCGCCTCAAGCCTCCTTAAGTGCTTCCTGCTCCTCCCTCCCTGACAGCCTCTGTGAGGGCTTTCCTTCCCGGGAAAGCTTCTCAACTCCACCACGTCAGCTGGTGCGAGAGCCAGCACCTCCAGGAAGCCTTCTCTGATCTTGTCCCTGGGATCCCTACGGCACTCGTCCTGGGCCTTTTTGGGCCCGGGAACTCCGGCCTCGAATTGTGGCCTCTAAGTTGCATGTTTGGCAGCCCATGTGCCGGACACCGCGGGACAGACAGACCCCAGGTGGGCGGGGGGAGCAGATTGGGCTGAGGCAGACACAGGCTTGGCCCTCTGGGAGCCACAGCCAAGGCAGCCGCTTGGAATTTAGGGAGACAGTAATAGACATGCACCCCCATGTCAGGACACCGGCGGGGCCAGAGGGAAGGGCAGTACGTCTCCTGCACGGGTCTGGCCCCTCCGAGATTCTTTGACTCTTGGGCCCCCAGAATGCCCCAGCGTCAGGATGTGAGGCAGGACTATGCTGAGATCGCGGTTCTCTTTGTAGAGGGGAGGAGAGCCCTCCCACCCTGAGGCCCTGAGGCACGTGTGGCAACCCTCACCCAGTTCTTTGCCTGAAGGGTCTCCTCTCTCCCAATAGTGCCATGAGGAGAGGTTCTTTTCCCCATTCCTCAGAGGTTCAGGGAGCTCTCTGGCCCACTCGGGGTCCCACAGTTACTGGGGGCTGTAGCAGACATTGGAGGCCAGGCCTGTCCATGGCACTAGAGTGAAACCCAGGTGGGGTGTGGCATCTGCAAGGGAAGGGGGGCCTGAACCAGCTCATCCCAAGGGGCCCTGGGCAGGGAGCCCCGAGGTGGGTGGGCAGCCCTGGTTTCACAGAGGGGGTGGCAAACTGGGTGCCCCCTCGCCCCCAGTTGTCTTGCAGAGCAAACAGGTTGCTTTCACCTCTCCTGCTGTTTTCCCCTTCTGCTGCACTTCCTGTGGGGCCTCCGGGTGACTCCAGAGCCTCGCCATGTGCCAGTGGGTGCCCCTCTGCCTTCTGGGCCCCACGGAGGCAGCCCTGTCTAGACTCCAGCTTGAGTAACTCACATCAGCTGTGACACATCAGCCATCCGTGCCCCTTTCACAGCAGCGCCAGCCCTGGCCCCAGACCCAGCCGCCTCACACCTGGCAATGCCATGAGCTTCTGAGAGGGGGACCTGGGGGTGTCCAGAGGGTATCTGGGAATCACTGGGCAGGTGCTTCCATAGCCAGGCTGTTTACCTGGGGTCTCCAGCTACCTCTGCCCTCAGTTTCCTGATGGGCCAACTCTGAATACCCAGGCGACAAAATGGGGGTGTCAGACGGAACTCAGAGCCTGGAACGTTCATGGTGAAGTGCCCAGGTGTGTATCAGGCCCTGGCGCCCGAGGGCTCCAAGTCTTGGTTGCTGTGGCGGGTGGATGCAAGATCCTAAACCTTATGAGTTCAAGGCAGAGAGTCCAAGAGTCTGTGAGGAGCGAGCTGGGGACCCCAGTGCGGCCCTGCTCAGAGATTGGGGTCCAGGCCCCGGGCCCTTGCCAGGTCCCAGGCTCCTCGTGCACGCTTGGTGGTGTCTGGCCTCCACCCTGCCCCGCCACCCCCCACCCCCCACCCCGCCCCAGGGCCTCTGCCTGCCCTGTAGCACACATGCTTGTTCAGGAGGGAGAACACACACTCACTCATTCCCTGTTGCCCACCAAAGGACCCCCGAGTGAGGAGGGGAAAGGCTGAGGGTGGGCCTGGGGCTTCCCAGGGGAGGCCTGGGCAGAGCCAGGGCCTGAAGGGTGAGCCGGCTTTTGCCGGGAGTCAGCTGGA
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TGTTCGCGCACCTGCGGAGAGGGCTACCAGTTCCGCGTCGTGCGCTGCTGGAAGATGCTCTCGCCCGGCTTCGACAGCTCCGTGTACAGCGACCTGTGCGAGGCAGCCGAGGCCGTGCGGCCCGAGGAACGCAAGACCTGCCGGAACCCCGCCTGCGGGCCCCAGTGGGAGATGTCGGAGTGGTCCGAGGTGAGTGCCTGCGGGAGCAAGCCGGGGGTCGGGAAGAGCTGGGGAGCTGGGCTTGGGAGATGGAGGTGGCTACACCTGTGTCACACCCCCCCTGCCCCCTCCCCCTGCCGCCCCAGTGCACTGCCAAGTGTGGGGAGCGCAGTGTGGTGACCAGGGACATCCGCTGCTCGGAGGATGAGAAGCTGTGTGACCCCAACACCAGGCCTGTAGGGGAGAAGAACTGCACGGGCCCGCCCTGTGACCGGCAGTGGACCGTCTCCGACTGGGGACCGGTGAGGCCTGCACTGAGGGGTGGCTGGGCGTGCGGCTGGTGAGGGGACCCAGAGCTTTGCCTTGATGTGCCTCAGTTTCCATTTTTTTCCGAGGCAAGGGTGTGAGGTCAAGAATGTCCAACCAGCCTTCTCCCATGTTATTATAGGAATCAAAACTTCTCTCCAAACACGTGGCCAGCATCACCTTCCCTCTATCACCTGTTTATCTCTCTGTATCTCTCTCTGCCTTTGTCTCCCTGTGTGTGTCTGTGTCTCTGTTCCTCTGTTGGTCTGTCTCTGTCTCCCCGTCTCTGTTTGTCTCCGAGTCTCTCTGTCTGTCTCCCCATCTCTGTCTCTCTGTGTCTGTCTTTGTCTCTTTCCCTGTCTCTGTCTCTCTCATCGAGAGAGATGCTCAGATGCTAGCTGGGGTCGCCTCTGGGTGGTGGGTGCACAGATGATCTTTTTAAGTGTGCTTTTCTCTGTGTGCTTTTCATCAAGCATGCATTATTTCTGTAATTAGAATAGAAAATGTTATTTAAAAAGTGGTTACCATGGCAACCGCTTCGACACTGCCTGGGAGCCACTCCTCTCCCTTGGGACTGACATCCAGGGCCCCTCCTGGTGTGGCTGCCTCTCACTGGATGTCCCCTGCCTGTCCTCTCCCCTGCAGTGCAGTGGAAGCTGCGGGCAAGGCCGCACCATCAGGCACGTGTACTGCAAGACCAGCGACGGACGGGTAGTACCTGAGTCCCAGTGCCAGATGGAGACCAAGCCTCTGGCCATCCACCCCTGTGGGGACAAAAACTGTCCCGCCCACTGGCTGGCCCAGGACTGGGAGCGGGTGAGTGCCCCAGAGCCCGCGGAAGGGCCTCCTGGTATCTGGAGAGCATTTGGCCAGAGAGGAGAGCCAGATGGCTGGGACCACAGATGGGTGAAAAAGAGGAATTCATTGCAAATTATGAAGGGACAATTCCCTAAAAATTAATTTAGAATACAAAAGGCTTAAAAGGTAGGAAAACACCTTACAAGTCCCCAAATCTCAATTTTGCATGGCTCAGTGGTACGTGCAGAATTGGCATTGCCCCCAGCCTGGGCCCCCAAGTCCCTGGGACGCAGAAAGCTAGGGACAGGGGTTGTTTTGGCTGCCTGCTCCTGGCCCAGGGGCCTTTGCGACCTCTGATCGTGACCAGTGTGTCTTCCGCACCCACCTGTCATCGTCACCAACTTGCCATTTCAGACGAGTTGCTCTCCACAAATTGCTTTCAACCAGCAGCTCCCGGCAGGTCACTAAACCGGATAATCTCGAGCCAAATTGTTTTCTGCTAAATTGATTTTGGCCAAATCATCACTGGCCAGATTGTCATTAGCCAATTTGTTTCAAAACAGATGGTTATGTGCTAAATTGCTTTTGATCAAATCCATCTGGGGCCAAATGGTTATCGAACAAAGAGTTTCCAGCCAGTTTGTTATGCACTGGAGCATTCTCACCCAATTGCTATTGACCAGCCCGTTGTCACCAGAGTCGCCGTGGGCCCTGTGTGTAGGGTCCTGCTGGGCCCTGGCGCTGACCCGCTCCCTCTGCCCCGGCCTCAGTGCAACACCACCTGCAGGCGCGGGGTCAAGAAGCGGCTGGTGCTCTGCATGGAGCTGGCCAACGGGAAGCCGCAGACGCGCAGTGGCCCCGAGTGCGGGCTCGCCAAGAAGCCTCCCGAGGAGAGCACGTGTTTCGAGAGGCCCTGCTTCAAGTGGTACACCAGCCCCTGGTCAGAGGTGAGCTCCCAGCCGGCCCCTCTGAGGTTGCCTGAGGCCAGACCTGAATGTCGATCCCGCCCCTCCCGCCTCAAGCCTCCTTAAGTGCTTCCTGCTCCTCCCTCCCTGACAGCCTCTGTGAGGGCTTTCCTTCCCGGGAAAGCTTCTCAACTCCACCACGTCAGCTGGTGCGAGAGCCAGCACCTCCAGGAAGCCTTCTCTGATCTTGTCCCTGGGATCCCTACGGCACTCGTCCTGGGCCTTTTTGGGCCCGGGAACTCCGGCCTCGAATTGTGGCCTCTAAGTTGCATGTTTGGCAGCCCATGTGCCGGACACCGCGGGACAGACAGACCCCAGGTGGGCGGGGGGAGCAGATTGGGCTGAGGCAGACACAGGCTTGGCCCTCTGGGAGCCACAGCCAAGGCAGCCGCTTGGAATTTAGGGAGACAGTAATAGACATGCACCCCCATGTCAGGACACCGGCGGGGCCAGAGGGAAGGGCAGTACGTCTCCTGCACGGGTCTGGCCCCTCCGAGATTCTTTGACTCTTGGGCCCCCAGAATGCCCCAGCGTCAGGATGTGAGGCAGGACTATGCTGAGATCGCGGTTCTCTTTGTAGAGGGGAGGAGAGCCCTCCCACCCTGAGGCCCTGAGGCACGTGTGGCAACCCTCACCCAGTTCTTTGCCTGAAGGGTCTCCTCTCTCCCAATAGTGCCATGAGGAGAGGTTCTTTTCCCCATTCCTCAGAGGTTCAGGGAGCTCTCTGGCCCACTCGGGGTCCCACAGTTACTGGGGGCTGTAGCAGACATTGGAGGCCAGGCCTGTCCATGGCACTAGAGTGAAACCCAGGTGGGGTGTGGCATCTGCAAGGGAAGGGGGGCCTGAACCAGCTCATCCCAAGGGGCCCTGGGCAGGGAGCCCCGAGGTGGGTGGGCAGCCCTGGTTTCACAGAGGGGGTGGCAAACTGGGTGCCCCCTCGCCCCCAGTTGTCTTGCAGAGCAAACAGGTTGCTTTCACCTCTCCTGCTGTTTTCCCCTTCTGCTGCACTTCCTGTGGGGCCTCCGGGTGACTCCAGAGCCTCGCCATGTGCCAGTGGGTGCCCCTCTGCCTTCTGGGCCCCACGGAGGCAGCCCTGTCTAGACTCCAGCTTGAGTAACTCACATCAGCTGTGACACATCAGCCATCCGTGCCCCTTTCACAGCAGCGCCAGCCCTGGCCCCAGACCCAGCCGCCTCACACCTGGCAATGCCATGAGCTTCTGAGAGGGGGACCTGGGGGTGTCCAGAGGGTATCTGGGAATCACTGGGCAGGTGCTTCCATAGCCAGGCTGTTTACCTGGGGTCTCCAGCTACCTCTGCCCTCAGTTTCCTGATGGGCCAACTCTGAATACCCAGGCGACAAAATGGGGGTGTCAGACGGAACTCAGAGCCTGGAACGTTCATGGTGAAGTGCCCAGGTGTGTATCAGGCCCTGGCGCCCGAGGGCTCCAAGTCTTGGTTGCTGTGGCGGGTGGATGCAAGATCCTAAACCTTATGAGTTCAAGGCAGAGAGTCCAAGAGTCTGTGAGGAGCGAGCTGGGGACCCCAGTGCGGCCCTGCTCAGAGATTGGGGTCCAGGCCCCGGGCCCTTGCCAGGTCCCAGGCTCCTCGTGCACGCTTGGTGGTGTCTGGCCTCCACCCTGCCCCGCCACCCCCCACCCCCCACCCCGCCCCAGGGCCTCTGCCTGCCCTGTAGCACACATGCTTGTTCAGGAGGGAGAACACACACTCACTCATTCCCTGTTGCCCACCAAAGGACCCCCGAGTGAGGAGGGGAAAGGCTGAGGGTGGGCCTGGGGCTTCCCAGGGGAGGCCTGGGCAGAGCCAGGGCCTGAAGGGTGAGCCGGCTTTTGCCGGGAGTCAGCTGGA
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Task1_train_13457
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Here is a mutation in COL5A1 (collagen type V alpha 1 chain) on Chromosome 9. Determine whether it’s benign or pathogenic. If the latter, what disease does it cause?
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Pathogenic; Ehlers-Danlos syndrome, classic type, 1
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GGTAGGGGCGGGGGCACTCCAAGGACCAAGCACAGCTGGGGCTGGCGCGGAGTCTGGGGTTTGATGGAATTTCTCACTCATTGAAGTCCACAGGGAAAGTAAAGGGCCAGTGGCTGCAGGTTAACCAACGCACAGACACGCACACAGGCACACACACAAACACACACATGCACACAACTCACACACATTTTTGCCTGATCACATATGCCTTATACAAGTTGTAAAACAAAATAAAATCAACAAGGAAACAGGTCAGAACTAACATTTGCTTTACTGAATGTATCTCAAGCACCTCCCCACGTCTGTGTGTGAAGAGCTTCTCATTCTTTTCCTGCGAAATATTTGATATCTATGCAAGCGCATGTGGCAGATATGGAGACTAAAAGCCTCATCACCAAGTTAGCAACAGCGACCTATCACCCAGCTCCGGAGCCTGCCATGGCTATCCTGGCAAACCTAACCTCGGACGCCTCTCTCACCTCCTGTTTCCAGAATGGTGAGAATTAAAGAGCATTTGGGGAATTTCACGCCCAGTCTGGAGATGTAACTGGAGAGGGGAGTCCCAGCCCTGTCTGGCATCTCTGGCTAAATTGTTTGTTCAAAGGGAATGGGGATGGCCCAGGGTTTGCAAATCGTTCTTAATTCATTCTGATTCCCTCCTTTTAAAAAACTAGCCCTGCAGCCCTTGGGGAAGGGGTGTGGGTCAGGCTTCAGGAGGCTGTGCAGGGAGGCCAGGCCTGGGGAAGCTGGAGGGAGAGACGCCCACCTACCACCCAGAGACTGGCGGGCCTCCTGCTGGAGGAGACCCCGAGGGGCTTAAAGAAGCCAGGCAGGAGAATCAGGGCCCCAGCTCTTCTCCGAGAGCAGCCGATCAGGAATGCCTTCTCCCTGCGCCAGCTGTCACTCCCAAGGGGATGCCTTCTTTGGTTTCCTTTTTATTGCAGAGGGGCCACCAGGGAGTGGGCAGGAGTGAGGGGTGAGAGCCTGGGGGCCGCAGAGCCAAACTTCGCCTGATTAATAACCCAGATGTTCCCGTCCAAGCACATGGAGGTCCCGGGAGCTCTTGGGAAGTCAGACCCCAGCTCGGTCCCGTGCCAATCTGCAGTTAGGAGGCAGGTCCTCGGTCCGGGTTGACACGTAGGCCACAGTCTTGGGCGCCCTGATCTGGCTGGATGGGAAGTTTAGTCTCCACCCAGAAGAGGAGCTCTGAACTCCTCCACGTTAAAGAAAAAGTTAGGCGGGGTAAACTGCAACTTTCTTTTTAACCCGAAGTGATCAAACCTCGGGGCCCCTCTGCACTGGTTCTTGGAGCATGGCCAGGTGCGGGCACCTGGGGTGGGAACAGTGGGGGGACCAGGGTGGGCCCCTGGGCTCCGAGGCCGCCCCAGGCCCGCCCGCCTACCGGCTCTCAGAGAAAGAACAGGGGGCCGCGCCCGCCCCACGTCCGCTCCGCCCCGGGCCAGCCCCTTCCTCGCTGCGACTCGCCCGCTGTCCCCACCCCCTCGCCCGCGGCGCCCAGTGGGAGGCGGGGGCTGGCCTCGCCGAGCCCAGCGCCGGGCTCTGATTTGCTGCGGGCGTTGGGGATCGACAGCCTCCGCGGCTGCCTTCCAGGAGAGAGGGAGGGAGGAAAAGGGGGAAAAAAGTGCTCCGCGCCGAAGGCGAGGTCCGCACTCTCCGTCCCCGCGGCTGGCGCAGGACCTCACTCGAGCGGAGCGCCCACGGGGAGCGGGTCGCGGGGCGGCGGCGGCGAGGAGGAGGCGAGAAGGAGTTGGAGGAGGAGGAGGAGGAGGCGAGGGCGAGCTAGCCCAGCGGGGTCCCGGCCGCCCCGCGGGCCAAAGTCGAGCCCTCCCGCCCGTGGGCGAGCGCGCCAGCCGCCCCTTCCAGAACAGCCGCCGCCACAAAGAAGAACGGGGGGTGCCGAGGTCCCCATGACCTCCTAAAGTGGTGCGGTCCCTGCTGAGTGCGCTGCCCGGGCCGTGACCCGCGCCCCTGTGCGTCCCCGCGCGCCTCCGAGCGCCCCTGTGCGCCCCGGCCCGCGCCCCGCCGGCATGGACGTCCATACCCGCTGGAAAGCGCGCAGCGCGCTCCGCCCGGGCGCCCCGCTGCTGCCCCCGCTGCTGCTGCTGCTGCTGTGGGCGCCGCCTCCGAGCCGCGCAGGTAAGGGCGCCCCGGGGCGCGGGGCTGCGGGATGGGGCGCGCGCAGCCCGGGCGCCGCTGTCATCCCCGGGCGCCTTCGCCCGCAGAACTTTTCTTCCTTGGCCTGTGGAATGCACGGGCCAAGACCACGAATGCCATTTGCTGGGGGCCCCCCCGAGATGACGACACGCAGACACAATGCCCGCGGGCGCGCCGCCGCCCCCTCCCCAGACGGGCGGGTCGGGTGGGGCTGTCGCGCGAGCCGAGGAAGGACCGAGGGCTGGATCAGCAGGAGGGGTTGTCCACGAGGCGGGCAAACTTTTGTCCCAAAAACCTTCCTTCTCTGTCCCACATCACAGGCGCCCAGCTTGGGCCCTCACAGCCCTACAGCAGAACTTCCTCTGCTCCAAACCGGGCAGGGCCGCCCCCTAGAGTTACAGCCCTTCAAATCCCGGGACTCCTGGGGATGGGGGGAATCCCAGAAGCCTGGGCCCCCAGCACTGAACTTCCCCCAGGCACTGTCACTCTAGGCTGAGCTGGCGCCCTGCTTTCCCCAGGGACAGCGTTTCCTGCAGCCTTGGTCACCTAAGTGTTCGGGGGCACTGGGGACCCCTGCAGGGTGGTAGACAGCCCTGCTCCTAATCCCACCCCCAAACTTCTTGATCCCTGGAAGGCAGCTTTTCCTGGATTCGCTGCTGAGAGATGGGATGCGTGGAGCAAAGCCAGAGATGGGCTTGCAGGCGGGGCTGTGAGTGGTTGGGATGATATGCAGATGTGGGATTCCTTCTGCCAAGGGTCAGCCCTTAGAAGGAGGCTTGCTTCCCGGGGAGGGCGCTTCAAGGCGGGGACTGTCTGCGTCCCTGCCTGGGTTCTCGAGGGTTCAACTCTCCCTGGCGCAGCTTCCTGACGGGGGAGTTTTTCTAGGCATCGCTCTTGGTAGTTAGTGGCGGGGTGGGTTTTCACAGACTCTCGAACATCAGAGCCCCCAGCCCTGGAAGGTCCCCCGAATCCTTATTGACAGGCGGGGAGATGGAGGCTCAGAGCTGTGTGCTGCCAGGTCAGGAGAAGTGGCGGGCAGAGCGATGGGACGGTGGGCTCAGCGAACGTCTGGACCAGCCCGCCGCCTGCCAGCAAGAATGCTTCTCTCTGCTTCACGATTGGAAGACAAGTGGGAAGAATCATTGTCCGTGTTCCGCTTGTCAATTAAAACACTCTTTTCCTTTTTCCCTGGCACGATCAGTGCTTGTTGGGCTAACTGGATGAGCTGGAGTCTGGGTGTGGGGGCTGCCCTGGGGCTCTGGGGGAGGAGCCAGGAGCCTGGCCTGGCTCCCAGGACCTGGGATCTCATCCCTGGGCCGCCACCAACTCTCTCCTGACCCTGGGCTAACTGGGCTTGTGTTTCTCCAGGGGTTAGCTGAAGGTGGGGGACAACAGAGGTCCCCAGAAAAGTGGAGAGGAGAAGGAAGGTGTGGTCAGGGACTGTGCCATTGCCGGGGGACTAGGCCCTGTCTCAGCGCCTCTGGGGACTTTTCCCCAGAAACTCAGGAGGGAGTCCTTCAGGGGAATCGTCACCCTAGACAGCTGGGGCAGGGCACTGCCTGGGGACCATGCACCGGACTGGGCTTGGGGTTCCATTTCCCTCCCTGCCCATCTCCCCACCTCCACACTGTCTTTTTCCCTCTCTGGTTGCCCTCGCTAATCGAAGTGCGGCTCGTTGGAAGTGGGAGTGAGGATGGCCCAGAGCAGCAGGCTATGGAGTTGGACATTTTGCTTTTGTCAGAACAGACTTTTAGAAGCATGTGGAGAGACCACTTTTCTTAGTGAGTTTTGCCAACGTCTCTCCACCTCCCAGGGTGGGACCTATTTGGAAGTCATCCTTCGAGCATGGCCAGAGGGGGCGGCTGTCCACTGGAGATGCAGGCGCTGGGGGGAGGGGGCGGCTGTCCACTGGAGATGCAGG
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GGTAGGGGCGGGGGCACTCCAAGGACCAAGCACAGCTGGGGCTGGCGCGGAGTCTGGGGTTTGATGGAATTTCTCACTCATTGAAGTCCACAGGGAAAGTAAAGGGCCAGTGGCTGCAGGTTAACCAACGCACAGACACGCACACAGGCACACACACAAACACACACATGCACACAACTCACACACATTTTTGCCTGATCACATATGCCTTATACAAGTTGTAAAACAAAATAAAATCAACAAGGAAACAGGTCAGAACTAACATTTGCTTTACTGAATGTATCTCAAGCACCTCCCCACGTCTGTGTGTGAAGAGCTTCTCATTCTTTTCCTGCGAAATATTTGATATCTATGCAAGCGCATGTGGCAGATATGGAGACTAAAAGCCTCATCACCAAGTTAGCAACAGCGACCTATCACCCAGCTCCGGAGCCTGCCATGGCTATCCTGGCAAACCTAACCTCGGACGCCTCTCTCACCTCCTGTTTCCAGAATGGTGAGAATTAAAGAGCATTTGGGGAATTTCACGCCCAGTCTGGAGATGTAACTGGAGAGGGGAGTCCCAGCCCTGTCTGGCATCTCTGGCTAAATTGTTTGTTCAAAGGGAATGGGGATGGCCCAGGGTTTGCAAATCGTTCTTAATTCATTCTGATTCCCTCCTTTTAAAAAACTAGCCCTGCAGCCCTTGGGGAAGGGGTGTGGGTCAGGCTTCAGGAGGCTGTGCAGGGAGGCCAGGCCTGGGGAAGCTGGAGGGAGAGACGCCCACCTACCACCCAGAGACTGGCGGGCCTCCTGCTGGAGGAGACCCCGAGGGGCTTAAAGAAGCCAGGCAGGAGAATCAGGGCCCCAGCTCTTCTCCGAGAGCAGCCGATCAGGAATGCCTTCTCCCTGCGCCAGCTGTCACTCCCAAGGGGATGCCTTCTTTGGTTTCCTTTTTATTGCAGAGGGGCCACCAGGGAGTGGGCAGGAGTGAGGGGTGAGAGCCTGGGGGCCGCAGAGCCAAACTTCGCCTGATTAATAACCCAGATGTTCCCGTCCAAGCACATGGAGGTCCCGGGAGCTCTTGGGAAGTCAGACCCCAGCTCGGTCCCGTGCCAATCTGCAGTTAGGAGGCAGGTCCTCGGTCCGGGTTGACACGTAGGCCACAGTCTTGGGCGCCCTGATCTGGCTGGATGGGAAGTTTAGTCTCCACCCAGAAGAGGAGCTCTGAACTCCTCCACGTTAAAGAAAAAGTTAGGCGGGGTAAACTGCAACTTTCTTTTTAACCCGAAGTGATCAAACCTCGGGGCCCCTCTGCACTGGTTCTTGGAGCATGGCCAGGTGCGGGCACCTGGGGTGGGAACAGTGGGGGGACCAGGGTGGGCCCCTGGGCTCCGAGGCCGCCCCAGGCCCGCCCGCCTACCGGCTCTCAGAGAAAGAACAGGGGGCCGCGCCCGCCCCACGTCCGCTCCGCCCCGGGCCAGCCCCTTCCTCGCTGCGACTCGCCCGCTGTCCCCACCCCCTCGCCCGCGGCGCCCAGTGGGAGGCGGGGGCTGGCCTCGCCGAGCCCAGCGCCGGGCTCTGATTTGCTGCGGGCGTTGGGGATCGACAGCCTCCGCGGCTGCCTTCCAGGAGAGAGGGAGGGAGGAAAAGGGGGAAAAAAGTGCTCCGCGCCGAAGGCGAGGTCCGCACTCTCCGTCCCCGCGGCTGGCGCAGGACCTCACTCGAGCGGAGCGCCCACGGGGAGCGGGTCGCGGGGCGGCGGCGGCGAGGAGGAGGCGAGAAGGAGTTGGAGGAGGAGGAGGAGGAGGCGAGGGCGAGCTAGCCCAGCGGGGTCCCGGCCGCCCCGCGGGCCAAAGTCGAGCCCTCCCGCCCGTGGGCGAGCGCGCCAGCCGCCCCTTCCAGAACAGCCGCCGCCACAAAGAAGAACGGGGGGTGCCGAGGTCCCCATGACCTCCTAAAGTGGTGCGGTCCCTGCTGAGTGCGCTGCCCGGGCCGTGACCCGCGCCCCTGTGCGTCCCCGCGCGCCTCCGAGCGCCCCTGTGCGCCCCGGCCCGCGCCCCGCCGGCGTGGACGTCCATACCCGCTGGAAAGCGCGCAGCGCGCTCCGCCCGGGCGCCCCGCTGCTGCCCCCGCTGCTGCTGCTGCTGCTGTGGGCGCCGCCTCCGAGCCGCGCAGGTAAGGGCGCCCCGGGGCGCGGGGCTGCGGGATGGGGCGCGCGCAGCCCGGGCGCCGCTGTCATCCCCGGGCGCCTTCGCCCGCAGAACTTTTCTTCCTTGGCCTGTGGAATGCACGGGCCAAGACCACGAATGCCATTTGCTGGGGGCCCCCCCGAGATGACGACACGCAGACACAATGCCCGCGGGCGCGCCGCCGCCCCCTCCCCAGACGGGCGGGTCGGGTGGGGCTGTCGCGCGAGCCGAGGAAGGACCGAGGGCTGGATCAGCAGGAGGGGTTGTCCACGAGGCGGGCAAACTTTTGTCCCAAAAACCTTCCTTCTCTGTCCCACATCACAGGCGCCCAGCTTGGGCCCTCACAGCCCTACAGCAGAACTTCCTCTGCTCCAAACCGGGCAGGGCCGCCCCCTAGAGTTACAGCCCTTCAAATCCCGGGACTCCTGGGGATGGGGGGAATCCCAGAAGCCTGGGCCCCCAGCACTGAACTTCCCCCAGGCACTGTCACTCTAGGCTGAGCTGGCGCCCTGCTTTCCCCAGGGACAGCGTTTCCTGCAGCCTTGGTCACCTAAGTGTTCGGGGGCACTGGGGACCCCTGCAGGGTGGTAGACAGCCCTGCTCCTAATCCCACCCCCAAACTTCTTGATCCCTGGAAGGCAGCTTTTCCTGGATTCGCTGCTGAGAGATGGGATGCGTGGAGCAAAGCCAGAGATGGGCTTGCAGGCGGGGCTGTGAGTGGTTGGGATGATATGCAGATGTGGGATTCCTTCTGCCAAGGGTCAGCCCTTAGAAGGAGGCTTGCTTCCCGGGGAGGGCGCTTCAAGGCGGGGACTGTCTGCGTCCCTGCCTGGGTTCTCGAGGGTTCAACTCTCCCTGGCGCAGCTTCCTGACGGGGGAGTTTTTCTAGGCATCGCTCTTGGTAGTTAGTGGCGGGGTGGGTTTTCACAGACTCTCGAACATCAGAGCCCCCAGCCCTGGAAGGTCCCCCGAATCCTTATTGACAGGCGGGGAGATGGAGGCTCAGAGCTGTGTGCTGCCAGGTCAGGAGAAGTGGCGGGCAGAGCGATGGGACGGTGGGCTCAGCGAACGTCTGGACCAGCCCGCCGCCTGCCAGCAAGAATGCTTCTCTCTGCTTCACGATTGGAAGACAAGTGGGAAGAATCATTGTCCGTGTTCCGCTTGTCAATTAAAACACTCTTTTCCTTTTTCCCTGGCACGATCAGTGCTTGTTGGGCTAACTGGATGAGCTGGAGTCTGGGTGTGGGGGCTGCCCTGGGGCTCTGGGGGAGGAGCCAGGAGCCTGGCCTGGCTCCCAGGACCTGGGATCTCATCCCTGGGCCGCCACCAACTCTCTCCTGACCCTGGGCTAACTGGGCTTGTGTTTCTCCAGGGGTTAGCTGAAGGTGGGGGACAACAGAGGTCCCCAGAAAAGTGGAGAGGAGAAGGAAGGTGTGGTCAGGGACTGTGCCATTGCCGGGGGACTAGGCCCTGTCTCAGCGCCTCTGGGGACTTTTCCCCAGAAACTCAGGAGGGAGTCCTTCAGGGGAATCGTCACCCTAGACAGCTGGGGCAGGGCACTGCCTGGGGACCATGCACCGGACTGGGCTTGGGGTTCCATTTCCCTCCCTGCCCATCTCCCCACCTCCACACTGTCTTTTTCCCTCTCTGGTTGCCCTCGCTAATCGAAGTGCGGCTCGTTGGAAGTGGGAGTGAGGATGGCCCAGAGCAGCAGGCTATGGAGTTGGACATTTTGCTTTTGTCAGAACAGACTTTTAGAAGCATGTGGAGAGACCACTTTTCTTAGTGAGTTTTGCCAACGTCTCTCCACCTCCCAGGGTGGGACCTATTTGGAAGTCATCCTTCGAGCATGGCCAGAGGGGGCGGCTGTCCACTGGAGATGCAGGCGCTGGGGGGAGGGGGCGGCTGTCCACTGGAGATGCAGG
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Task1_train_13458
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A variant found in Chromosome 9 affects COL5A1 (collagen type V alpha 1 chain). Please analyze its biological impact: is it benign or pathogenic, and what condition might it cause?
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Pathogenic; Ehlers-Danlos syndrome, classic type, 1
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GTAGGGGCGGGGGCACTCCAAGGACCAAGCACAGCTGGGGCTGGCGCGGAGTCTGGGGTTTGATGGAATTTCTCACTCATTGAAGTCCACAGGGAAAGTAAAGGGCCAGTGGCTGCAGGTTAACCAACGCACAGACACGCACACAGGCACACACACAAACACACACATGCACACAACTCACACACATTTTTGCCTGATCACATATGCCTTATACAAGTTGTAAAACAAAATAAAATCAACAAGGAAACAGGTCAGAACTAACATTTGCTTTACTGAATGTATCTCAAGCACCTCCCCACGTCTGTGTGTGAAGAGCTTCTCATTCTTTTCCTGCGAAATATTTGATATCTATGCAAGCGCATGTGGCAGATATGGAGACTAAAAGCCTCATCACCAAGTTAGCAACAGCGACCTATCACCCAGCTCCGGAGCCTGCCATGGCTATCCTGGCAAACCTAACCTCGGACGCCTCTCTCACCTCCTGTTTCCAGAATGGTGAGAATTAAAGAGCATTTGGGGAATTTCACGCCCAGTCTGGAGATGTAACTGGAGAGGGGAGTCCCAGCCCTGTCTGGCATCTCTGGCTAAATTGTTTGTTCAAAGGGAATGGGGATGGCCCAGGGTTTGCAAATCGTTCTTAATTCATTCTGATTCCCTCCTTTTAAAAAACTAGCCCTGCAGCCCTTGGGGAAGGGGTGTGGGTCAGGCTTCAGGAGGCTGTGCAGGGAGGCCAGGCCTGGGGAAGCTGGAGGGAGAGACGCCCACCTACCACCCAGAGACTGGCGGGCCTCCTGCTGGAGGAGACCCCGAGGGGCTTAAAGAAGCCAGGCAGGAGAATCAGGGCCCCAGCTCTTCTCCGAGAGCAGCCGATCAGGAATGCCTTCTCCCTGCGCCAGCTGTCACTCCCAAGGGGATGCCTTCTTTGGTTTCCTTTTTATTGCAGAGGGGCCACCAGGGAGTGGGCAGGAGTGAGGGGTGAGAGCCTGGGGGCCGCAGAGCCAAACTTCGCCTGATTAATAACCCAGATGTTCCCGTCCAAGCACATGGAGGTCCCGGGAGCTCTTGGGAAGTCAGACCCCAGCTCGGTCCCGTGCCAATCTGCAGTTAGGAGGCAGGTCCTCGGTCCGGGTTGACACGTAGGCCACAGTCTTGGGCGCCCTGATCTGGCTGGATGGGAAGTTTAGTCTCCACCCAGAAGAGGAGCTCTGAACTCCTCCACGTTAAAGAAAAAGTTAGGCGGGGTAAACTGCAACTTTCTTTTTAACCCGAAGTGATCAAACCTCGGGGCCCCTCTGCACTGGTTCTTGGAGCATGGCCAGGTGCGGGCACCTGGGGTGGGAACAGTGGGGGGACCAGGGTGGGCCCCTGGGCTCCGAGGCCGCCCCAGGCCCGCCCGCCTACCGGCTCTCAGAGAAAGAACAGGGGGCCGCGCCCGCCCCACGTCCGCTCCGCCCCGGGCCAGCCCCTTCCTCGCTGCGACTCGCCCGCTGTCCCCACCCCCTCGCCCGCGGCGCCCAGTGGGAGGCGGGGGCTGGCCTCGCCGAGCCCAGCGCCGGGCTCTGATTTGCTGCGGGCGTTGGGGATCGACAGCCTCCGCGGCTGCCTTCCAGGAGAGAGGGAGGGAGGAAAAGGGGGAAAAAAGTGCTCCGCGCCGAAGGCGAGGTCCGCACTCTCCGTCCCCGCGGCTGGCGCAGGACCTCACTCGAGCGGAGCGCCCACGGGGAGCGGGTCGCGGGGCGGCGGCGGCGAGGAGGAGGCGAGAAGGAGTTGGAGGAGGAGGAGGAGGAGGCGAGGGCGAGCTAGCCCAGCGGGGTCCCGGCCGCCCCGCGGGCCAAAGTCGAGCCCTCCCGCCCGTGGGCGAGCGCGCCAGCCGCCCCTTCCAGAACAGCCGCCGCCACAAAGAAGAACGGGGGGTGCCGAGGTCCCCATGACCTCCTAAAGTGGTGCGGTCCCTGCTGAGTGCGCTGCCCGGGCCGTGACCCGCGCCCCTGTGCGTCCCCGCGCGCCTCCGAGCGCCCCTGTGCGCCCCGGCCCGCGCCCCGCCGGCATGGACGTCCATACCCGCTGGAAAGCGCGCAGCGCGCTCCGCCCGGGCGCCCCGCTGCTGCCCCCGCTGCTGCTGCTGCTGCTGTGGGCGCCGCCTCCGAGCCGCGCAGGTAAGGGCGCCCCGGGGCGCGGGGCTGCGGGATGGGGCGCGCGCAGCCCGGGCGCCGCTGTCATCCCCGGGCGCCTTCGCCCGCAGAACTTTTCTTCCTTGGCCTGTGGAATGCACGGGCCAAGACCACGAATGCCATTTGCTGGGGGCCCCCCCGAGATGACGACACGCAGACACAATGCCCGCGGGCGCGCCGCCGCCCCCTCCCCAGACGGGCGGGTCGGGTGGGGCTGTCGCGCGAGCCGAGGAAGGACCGAGGGCTGGATCAGCAGGAGGGGTTGTCCACGAGGCGGGCAAACTTTTGTCCCAAAAACCTTCCTTCTCTGTCCCACATCACAGGCGCCCAGCTTGGGCCCTCACAGCCCTACAGCAGAACTTCCTCTGCTCCAAACCGGGCAGGGCCGCCCCCTAGAGTTACAGCCCTTCAAATCCCGGGACTCCTGGGGATGGGGGGAATCCCAGAAGCCTGGGCCCCCAGCACTGAACTTCCCCCAGGCACTGTCACTCTAGGCTGAGCTGGCGCCCTGCTTTCCCCAGGGACAGCGTTTCCTGCAGCCTTGGTCACCTAAGTGTTCGGGGGCACTGGGGACCCCTGCAGGGTGGTAGACAGCCCTGCTCCTAATCCCACCCCCAAACTTCTTGATCCCTGGAAGGCAGCTTTTCCTGGATTCGCTGCTGAGAGATGGGATGCGTGGAGCAAAGCCAGAGATGGGCTTGCAGGCGGGGCTGTGAGTGGTTGGGATGATATGCAGATGTGGGATTCCTTCTGCCAAGGGTCAGCCCTTAGAAGGAGGCTTGCTTCCCGGGGAGGGCGCTTCAAGGCGGGGACTGTCTGCGTCCCTGCCTGGGTTCTCGAGGGTTCAACTCTCCCTGGCGCAGCTTCCTGACGGGGGAGTTTTTCTAGGCATCGCTCTTGGTAGTTAGTGGCGGGGTGGGTTTTCACAGACTCTCGAACATCAGAGCCCCCAGCCCTGGAAGGTCCCCCGAATCCTTATTGACAGGCGGGGAGATGGAGGCTCAGAGCTGTGTGCTGCCAGGTCAGGAGAAGTGGCGGGCAGAGCGATGGGACGGTGGGCTCAGCGAACGTCTGGACCAGCCCGCCGCCTGCCAGCAAGAATGCTTCTCTCTGCTTCACGATTGGAAGACAAGTGGGAAGAATCATTGTCCGTGTTCCGCTTGTCAATTAAAACACTCTTTTCCTTTTTCCCTGGCACGATCAGTGCTTGTTGGGCTAACTGGATGAGCTGGAGTCTGGGTGTGGGGGCTGCCCTGGGGCTCTGGGGGAGGAGCCAGGAGCCTGGCCTGGCTCCCAGGACCTGGGATCTCATCCCTGGGCCGCCACCAACTCTCTCCTGACCCTGGGCTAACTGGGCTTGTGTTTCTCCAGGGGTTAGCTGAAGGTGGGGGACAACAGAGGTCCCCAGAAAAGTGGAGAGGAGAAGGAAGGTGTGGTCAGGGACTGTGCCATTGCCGGGGGACTAGGCCCTGTCTCAGCGCCTCTGGGGACTTTTCCCCAGAAACTCAGGAGGGAGTCCTTCAGGGGAATCGTCACCCTAGACAGCTGGGGCAGGGCACTGCCTGGGGACCATGCACCGGACTGGGCTTGGGGTTCCATTTCCCTCCCTGCCCATCTCCCCACCTCCACACTGTCTTTTTCCCTCTCTGGTTGCCCTCGCTAATCGAAGTGCGGCTCGTTGGAAGTGGGAGTGAGGATGGCCCAGAGCAGCAGGCTATGGAGTTGGACATTTTGCTTTTGTCAGAACAGACTTTTAGAAGCATGTGGAGAGACCACTTTTCTTAGTGAGTTTTGCCAACGTCTCTCCACCTCCCAGGGTGGGACCTATTTGGAAGTCATCCTTCGAGCATGGCCAGAGGGGGCGGCTGTCCACTGGAGATGCAGGCGCTGGGGGGAGGGGGCGGCTGTCCACTGGAGATGCAGGC
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GTAGGGGCGGGGGCACTCCAAGGACCAAGCACAGCTGGGGCTGGCGCGGAGTCTGGGGTTTGATGGAATTTCTCACTCATTGAAGTCCACAGGGAAAGTAAAGGGCCAGTGGCTGCAGGTTAACCAACGCACAGACACGCACACAGGCACACACACAAACACACACATGCACACAACTCACACACATTTTTGCCTGATCACATATGCCTTATACAAGTTGTAAAACAAAATAAAATCAACAAGGAAACAGGTCAGAACTAACATTTGCTTTACTGAATGTATCTCAAGCACCTCCCCACGTCTGTGTGTGAAGAGCTTCTCATTCTTTTCCTGCGAAATATTTGATATCTATGCAAGCGCATGTGGCAGATATGGAGACTAAAAGCCTCATCACCAAGTTAGCAACAGCGACCTATCACCCAGCTCCGGAGCCTGCCATGGCTATCCTGGCAAACCTAACCTCGGACGCCTCTCTCACCTCCTGTTTCCAGAATGGTGAGAATTAAAGAGCATTTGGGGAATTTCACGCCCAGTCTGGAGATGTAACTGGAGAGGGGAGTCCCAGCCCTGTCTGGCATCTCTGGCTAAATTGTTTGTTCAAAGGGAATGGGGATGGCCCAGGGTTTGCAAATCGTTCTTAATTCATTCTGATTCCCTCCTTTTAAAAAACTAGCCCTGCAGCCCTTGGGGAAGGGGTGTGGGTCAGGCTTCAGGAGGCTGTGCAGGGAGGCCAGGCCTGGGGAAGCTGGAGGGAGAGACGCCCACCTACCACCCAGAGACTGGCGGGCCTCCTGCTGGAGGAGACCCCGAGGGGCTTAAAGAAGCCAGGCAGGAGAATCAGGGCCCCAGCTCTTCTCCGAGAGCAGCCGATCAGGAATGCCTTCTCCCTGCGCCAGCTGTCACTCCCAAGGGGATGCCTTCTTTGGTTTCCTTTTTATTGCAGAGGGGCCACCAGGGAGTGGGCAGGAGTGAGGGGTGAGAGCCTGGGGGCCGCAGAGCCAAACTTCGCCTGATTAATAACCCAGATGTTCCCGTCCAAGCACATGGAGGTCCCGGGAGCTCTTGGGAAGTCAGACCCCAGCTCGGTCCCGTGCCAATCTGCAGTTAGGAGGCAGGTCCTCGGTCCGGGTTGACACGTAGGCCACAGTCTTGGGCGCCCTGATCTGGCTGGATGGGAAGTTTAGTCTCCACCCAGAAGAGGAGCTCTGAACTCCTCCACGTTAAAGAAAAAGTTAGGCGGGGTAAACTGCAACTTTCTTTTTAACCCGAAGTGATCAAACCTCGGGGCCCCTCTGCACTGGTTCTTGGAGCATGGCCAGGTGCGGGCACCTGGGGTGGGAACAGTGGGGGGACCAGGGTGGGCCCCTGGGCTCCGAGGCCGCCCCAGGCCCGCCCGCCTACCGGCTCTCAGAGAAAGAACAGGGGGCCGCGCCCGCCCCACGTCCGCTCCGCCCCGGGCCAGCCCCTTCCTCGCTGCGACTCGCCCGCTGTCCCCACCCCCTCGCCCGCGGCGCCCAGTGGGAGGCGGGGGCTGGCCTCGCCGAGCCCAGCGCCGGGCTCTGATTTGCTGCGGGCGTTGGGGATCGACAGCCTCCGCGGCTGCCTTCCAGGAGAGAGGGAGGGAGGAAAAGGGGGAAAAAAGTGCTCCGCGCCGAAGGCGAGGTCCGCACTCTCCGTCCCCGCGGCTGGCGCAGGACCTCACTCGAGCGGAGCGCCCACGGGGAGCGGGTCGCGGGGCGGCGGCGGCGAGGAGGAGGCGAGAAGGAGTTGGAGGAGGAGGAGGAGGAGGCGAGGGCGAGCTAGCCCAGCGGGGTCCCGGCCGCCCCGCGGGCCAAAGTCGAGCCCTCCCGCCCGTGGGCGAGCGCGCCAGCCGCCCCTTCCAGAACAGCCGCCGCCACAAAGAAGAACGGGGGGTGCCGAGGTCCCCATGACCTCCTAAAGTGGTGCGGTCCCTGCTGAGTGCGCTGCCCGGGCCGTGACCCGCGCCCCTGTGCGTCCCCGCGCGCCTCCGAGCGCCCCTGTGCGCCCCGGCCCGCGCCCCGCCGGCAGGGACGTCCATACCCGCTGGAAAGCGCGCAGCGCGCTCCGCCCGGGCGCCCCGCTGCTGCCCCCGCTGCTGCTGCTGCTGCTGTGGGCGCCGCCTCCGAGCCGCGCAGGTAAGGGCGCCCCGGGGCGCGGGGCTGCGGGATGGGGCGCGCGCAGCCCGGGCGCCGCTGTCATCCCCGGGCGCCTTCGCCCGCAGAACTTTTCTTCCTTGGCCTGTGGAATGCACGGGCCAAGACCACGAATGCCATTTGCTGGGGGCCCCCCCGAGATGACGACACGCAGACACAATGCCCGCGGGCGCGCCGCCGCCCCCTCCCCAGACGGGCGGGTCGGGTGGGGCTGTCGCGCGAGCCGAGGAAGGACCGAGGGCTGGATCAGCAGGAGGGGTTGTCCACGAGGCGGGCAAACTTTTGTCCCAAAAACCTTCCTTCTCTGTCCCACATCACAGGCGCCCAGCTTGGGCCCTCACAGCCCTACAGCAGAACTTCCTCTGCTCCAAACCGGGCAGGGCCGCCCCCTAGAGTTACAGCCCTTCAAATCCCGGGACTCCTGGGGATGGGGGGAATCCCAGAAGCCTGGGCCCCCAGCACTGAACTTCCCCCAGGCACTGTCACTCTAGGCTGAGCTGGCGCCCTGCTTTCCCCAGGGACAGCGTTTCCTGCAGCCTTGGTCACCTAAGTGTTCGGGGGCACTGGGGACCCCTGCAGGGTGGTAGACAGCCCTGCTCCTAATCCCACCCCCAAACTTCTTGATCCCTGGAAGGCAGCTTTTCCTGGATTCGCTGCTGAGAGATGGGATGCGTGGAGCAAAGCCAGAGATGGGCTTGCAGGCGGGGCTGTGAGTGGTTGGGATGATATGCAGATGTGGGATTCCTTCTGCCAAGGGTCAGCCCTTAGAAGGAGGCTTGCTTCCCGGGGAGGGCGCTTCAAGGCGGGGACTGTCTGCGTCCCTGCCTGGGTTCTCGAGGGTTCAACTCTCCCTGGCGCAGCTTCCTGACGGGGGAGTTTTTCTAGGCATCGCTCTTGGTAGTTAGTGGCGGGGTGGGTTTTCACAGACTCTCGAACATCAGAGCCCCCAGCCCTGGAAGGTCCCCCGAATCCTTATTGACAGGCGGGGAGATGGAGGCTCAGAGCTGTGTGCTGCCAGGTCAGGAGAAGTGGCGGGCAGAGCGATGGGACGGTGGGCTCAGCGAACGTCTGGACCAGCCCGCCGCCTGCCAGCAAGAATGCTTCTCTCTGCTTCACGATTGGAAGACAAGTGGGAAGAATCATTGTCCGTGTTCCGCTTGTCAATTAAAACACTCTTTTCCTTTTTCCCTGGCACGATCAGTGCTTGTTGGGCTAACTGGATGAGCTGGAGTCTGGGTGTGGGGGCTGCCCTGGGGCTCTGGGGGAGGAGCCAGGAGCCTGGCCTGGCTCCCAGGACCTGGGATCTCATCCCTGGGCCGCCACCAACTCTCTCCTGACCCTGGGCTAACTGGGCTTGTGTTTCTCCAGGGGTTAGCTGAAGGTGGGGGACAACAGAGGTCCCCAGAAAAGTGGAGAGGAGAAGGAAGGTGTGGTCAGGGACTGTGCCATTGCCGGGGGACTAGGCCCTGTCTCAGCGCCTCTGGGGACTTTTCCCCAGAAACTCAGGAGGGAGTCCTTCAGGGGAATCGTCACCCTAGACAGCTGGGGCAGGGCACTGCCTGGGGACCATGCACCGGACTGGGCTTGGGGTTCCATTTCCCTCCCTGCCCATCTCCCCACCTCCACACTGTCTTTTTCCCTCTCTGGTTGCCCTCGCTAATCGAAGTGCGGCTCGTTGGAAGTGGGAGTGAGGATGGCCCAGAGCAGCAGGCTATGGAGTTGGACATTTTGCTTTTGTCAGAACAGACTTTTAGAAGCATGTGGAGAGACCACTTTTCTTAGTGAGTTTTGCCAACGTCTCTCCACCTCCCAGGGTGGGACCTATTTGGAAGTCATCCTTCGAGCATGGCCAGAGGGGGCGGCTGTCCACTGGAGATGCAGGCGCTGGGGGGAGGGGGCGGCTGTCCACTGGAGATGCAGGC
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Task1_train_13459
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A variant found in Chromosome 9 affects COL5A1 (collagen type V alpha 1 chain). Please analyze its biological impact: is it benign or pathogenic, and what condition might it cause?
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Pathogenic; Ehlers-Danlos syndrome, classic type, 1
|
TCACTCATTGAAGTCCACAGGGAAAGTAAAGGGCCAGTGGCTGCAGGTTAACCAACGCACAGACACGCACACAGGCACACACACAAACACACACATGCACACAACTCACACACATTTTTGCCTGATCACATATGCCTTATACAAGTTGTAAAACAAAATAAAATCAACAAGGAAACAGGTCAGAACTAACATTTGCTTTACTGAATGTATCTCAAGCACCTCCCCACGTCTGTGTGTGAAGAGCTTCTCATTCTTTTCCTGCGAAATATTTGATATCTATGCAAGCGCATGTGGCAGATATGGAGACTAAAAGCCTCATCACCAAGTTAGCAACAGCGACCTATCACCCAGCTCCGGAGCCTGCCATGGCTATCCTGGCAAACCTAACCTCGGACGCCTCTCTCACCTCCTGTTTCCAGAATGGTGAGAATTAAAGAGCATTTGGGGAATTTCACGCCCAGTCTGGAGATGTAACTGGAGAGGGGAGTCCCAGCCCTGTCTGGCATCTCTGGCTAAATTGTTTGTTCAAAGGGAATGGGGATGGCCCAGGGTTTGCAAATCGTTCTTAATTCATTCTGATTCCCTCCTTTTAAAAAACTAGCCCTGCAGCCCTTGGGGAAGGGGTGTGGGTCAGGCTTCAGGAGGCTGTGCAGGGAGGCCAGGCCTGGGGAAGCTGGAGGGAGAGACGCCCACCTACCACCCAGAGACTGGCGGGCCTCCTGCTGGAGGAGACCCCGAGGGGCTTAAAGAAGCCAGGCAGGAGAATCAGGGCCCCAGCTCTTCTCCGAGAGCAGCCGATCAGGAATGCCTTCTCCCTGCGCCAGCTGTCACTCCCAAGGGGATGCCTTCTTTGGTTTCCTTTTTATTGCAGAGGGGCCACCAGGGAGTGGGCAGGAGTGAGGGGTGAGAGCCTGGGGGCCGCAGAGCCAAACTTCGCCTGATTAATAACCCAGATGTTCCCGTCCAAGCACATGGAGGTCCCGGGAGCTCTTGGGAAGTCAGACCCCAGCTCGGTCCCGTGCCAATCTGCAGTTAGGAGGCAGGTCCTCGGTCCGGGTTGACACGTAGGCCACAGTCTTGGGCGCCCTGATCTGGCTGGATGGGAAGTTTAGTCTCCACCCAGAAGAGGAGCTCTGAACTCCTCCACGTTAAAGAAAAAGTTAGGCGGGGTAAACTGCAACTTTCTTTTTAACCCGAAGTGATCAAACCTCGGGGCCCCTCTGCACTGGTTCTTGGAGCATGGCCAGGTGCGGGCACCTGGGGTGGGAACAGTGGGGGGACCAGGGTGGGCCCCTGGGCTCCGAGGCCGCCCCAGGCCCGCCCGCCTACCGGCTCTCAGAGAAAGAACAGGGGGCCGCGCCCGCCCCACGTCCGCTCCGCCCCGGGCCAGCCCCTTCCTCGCTGCGACTCGCCCGCTGTCCCCACCCCCTCGCCCGCGGCGCCCAGTGGGAGGCGGGGGCTGGCCTCGCCGAGCCCAGCGCCGGGCTCTGATTTGCTGCGGGCGTTGGGGATCGACAGCCTCCGCGGCTGCCTTCCAGGAGAGAGGGAGGGAGGAAAAGGGGGAAAAAAGTGCTCCGCGCCGAAGGCGAGGTCCGCACTCTCCGTCCCCGCGGCTGGCGCAGGACCTCACTCGAGCGGAGCGCCCACGGGGAGCGGGTCGCGGGGCGGCGGCGGCGAGGAGGAGGCGAGAAGGAGTTGGAGGAGGAGGAGGAGGAGGCGAGGGCGAGCTAGCCCAGCGGGGTCCCGGCCGCCCCGCGGGCCAAAGTCGAGCCCTCCCGCCCGTGGGCGAGCGCGCCAGCCGCCCCTTCCAGAACAGCCGCCGCCACAAAGAAGAACGGGGGGTGCCGAGGTCCCCATGACCTCCTAAAGTGGTGCGGTCCCTGCTGAGTGCGCTGCCCGGGCCGTGACCCGCGCCCCTGTGCGTCCCCGCGCGCCTCCGAGCGCCCCTGTGCGCCCCGGCCCGCGCCCCGCCGGCATGGACGTCCATACCCGCTGGAAAGCGCGCAGCGCGCTCCGCCCGGGCGCCCCGCTGCTGCCCCCGCTGCTGCTGCTGCTGCTGTGGGCGCCGCCTCCGAGCCGCGCAGGTAAGGGCGCCCCGGGGCGCGGGGCTGCGGGATGGGGCGCGCGCAGCCCGGGCGCCGCTGTCATCCCCGGGCGCCTTCGCCCGCAGAACTTTTCTTCCTTGGCCTGTGGAATGCACGGGCCAAGACCACGAATGCCATTTGCTGGGGGCCCCCCCGAGATGACGACACGCAGACACAATGCCCGCGGGCGCGCCGCCGCCCCCTCCCCAGACGGGCGGGTCGGGTGGGGCTGTCGCGCGAGCCGAGGAAGGACCGAGGGCTGGATCAGCAGGAGGGGTTGTCCACGAGGCGGGCAAACTTTTGTCCCAAAAACCTTCCTTCTCTGTCCCACATCACAGGCGCCCAGCTTGGGCCCTCACAGCCCTACAGCAGAACTTCCTCTGCTCCAAACCGGGCAGGGCCGCCCCCTAGAGTTACAGCCCTTCAAATCCCGGGACTCCTGGGGATGGGGGGAATCCCAGAAGCCTGGGCCCCCAGCACTGAACTTCCCCCAGGCACTGTCACTCTAGGCTGAGCTGGCGCCCTGCTTTCCCCAGGGACAGCGTTTCCTGCAGCCTTGGTCACCTAAGTGTTCGGGGGCACTGGGGACCCCTGCAGGGTGGTAGACAGCCCTGCTCCTAATCCCACCCCCAAACTTCTTGATCCCTGGAAGGCAGCTTTTCCTGGATTCGCTGCTGAGAGATGGGATGCGTGGAGCAAAGCCAGAGATGGGCTTGCAGGCGGGGCTGTGAGTGGTTGGGATGATATGCAGATGTGGGATTCCTTCTGCCAAGGGTCAGCCCTTAGAAGGAGGCTTGCTTCCCGGGGAGGGCGCTTCAAGGCGGGGACTGTCTGCGTCCCTGCCTGGGTTCTCGAGGGTTCAACTCTCCCTGGCGCAGCTTCCTGACGGGGGAGTTTTTCTAGGCATCGCTCTTGGTAGTTAGTGGCGGGGTGGGTTTTCACAGACTCTCGAACATCAGAGCCCCCAGCCCTGGAAGGTCCCCCGAATCCTTATTGACAGGCGGGGAGATGGAGGCTCAGAGCTGTGTGCTGCCAGGTCAGGAGAAGTGGCGGGCAGAGCGATGGGACGGTGGGCTCAGCGAACGTCTGGACCAGCCCGCCGCCTGCCAGCAAGAATGCTTCTCTCTGCTTCACGATTGGAAGACAAGTGGGAAGAATCATTGTCCGTGTTCCGCTTGTCAATTAAAACACTCTTTTCCTTTTTCCCTGGCACGATCAGTGCTTGTTGGGCTAACTGGATGAGCTGGAGTCTGGGTGTGGGGGCTGCCCTGGGGCTCTGGGGGAGGAGCCAGGAGCCTGGCCTGGCTCCCAGGACCTGGGATCTCATCCCTGGGCCGCCACCAACTCTCTCCTGACCCTGGGCTAACTGGGCTTGTGTTTCTCCAGGGGTTAGCTGAAGGTGGGGGACAACAGAGGTCCCCAGAAAAGTGGAGAGGAGAAGGAAGGTGTGGTCAGGGACTGTGCCATTGCCGGGGGACTAGGCCCTGTCTCAGCGCCTCTGGGGACTTTTCCCCAGAAACTCAGGAGGGAGTCCTTCAGGGGAATCGTCACCCTAGACAGCTGGGGCAGGGCACTGCCTGGGGACCATGCACCGGACTGGGCTTGGGGTTCCATTTCCCTCCCTGCCCATCTCCCCACCTCCACACTGTCTTTTTCCCTCTCTGGTTGCCCTCGCTAATCGAAGTGCGGCTCGTTGGAAGTGGGAGTGAGGATGGCCCAGAGCAGCAGGCTATGGAGTTGGACATTTTGCTTTTGTCAGAACAGACTTTTAGAAGCATGTGGAGAGACCACTTTTCTTAGTGAGTTTTGCCAACGTCTCTCCACCTCCCAGGGTGGGACCTATTTGGAAGTCATCCTTCGAGCATGGCCAGAGGGGGCGGCTGTCCACTGGAGATGCAGGCGCTGGGGGGAGGGGGCGGCTGTCCACTGGAGATGCAGGCGTGGCGGGGAGGGGGCGGCTGTCCACTGGAGATGCAGGCGCTGGGGGGAGGGGGCGGCTGTCCACTGGAGAT
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TCACTCATTGAAGTCCACAGGGAAAGTAAAGGGCCAGTGGCTGCAGGTTAACCAACGCACAGACACGCACACAGGCACACACACAAACACACACATGCACACAACTCACACACATTTTTGCCTGATCACATATGCCTTATACAAGTTGTAAAACAAAATAAAATCAACAAGGAAACAGGTCAGAACTAACATTTGCTTTACTGAATGTATCTCAAGCACCTCCCCACGTCTGTGTGTGAAGAGCTTCTCATTCTTTTCCTGCGAAATATTTGATATCTATGCAAGCGCATGTGGCAGATATGGAGACTAAAAGCCTCATCACCAAGTTAGCAACAGCGACCTATCACCCAGCTCCGGAGCCTGCCATGGCTATCCTGGCAAACCTAACCTCGGACGCCTCTCTCACCTCCTGTTTCCAGAATGGTGAGAATTAAAGAGCATTTGGGGAATTTCACGCCCAGTCTGGAGATGTAACTGGAGAGGGGAGTCCCAGCCCTGTCTGGCATCTCTGGCTAAATTGTTTGTTCAAAGGGAATGGGGATGGCCCAGGGTTTGCAAATCGTTCTTAATTCATTCTGATTCCCTCCTTTTAAAAAACTAGCCCTGCAGCCCTTGGGGAAGGGGTGTGGGTCAGGCTTCAGGAGGCTGTGCAGGGAGGCCAGGCCTGGGGAAGCTGGAGGGAGAGACGCCCACCTACCACCCAGAGACTGGCGGGCCTCCTGCTGGAGGAGACCCCGAGGGGCTTAAAGAAGCCAGGCAGGAGAATCAGGGCCCCAGCTCTTCTCCGAGAGCAGCCGATCAGGAATGCCTTCTCCCTGCGCCAGCTGTCACTCCCAAGGGGATGCCTTCTTTGGTTTCCTTTTTATTGCAGAGGGGCCACCAGGGAGTGGGCAGGAGTGAGGGGTGAGAGCCTGGGGGCCGCAGAGCCAAACTTCGCCTGATTAATAACCCAGATGTTCCCGTCCAAGCACATGGAGGTCCCGGGAGCTCTTGGGAAGTCAGACCCCAGCTCGGTCCCGTGCCAATCTGCAGTTAGGAGGCAGGTCCTCGGTCCGGGTTGACACGTAGGCCACAGTCTTGGGCGCCCTGATCTGGCTGGATGGGAAGTTTAGTCTCCACCCAGAAGAGGAGCTCTGAACTCCTCCACGTTAAAGAAAAAGTTAGGCGGGGTAAACTGCAACTTTCTTTTTAACCCGAAGTGATCAAACCTCGGGGCCCCTCTGCACTGGTTCTTGGAGCATGGCCAGGTGCGGGCACCTGGGGTGGGAACAGTGGGGGGACCAGGGTGGGCCCCTGGGCTCCGAGGCCGCCCCAGGCCCGCCCGCCTACCGGCTCTCAGAGAAAGAACAGGGGGCCGCGCCCGCCCCACGTCCGCTCCGCCCCGGGCCAGCCCCTTCCTCGCTGCGACTCGCCCGCTGTCCCCACCCCCTCGCCCGCGGCGCCCAGTGGGAGGCGGGGGCTGGCCTCGCCGAGCCCAGCGCCGGGCTCTGATTTGCTGCGGGCGTTGGGGATCGACAGCCTCCGCGGCTGCCTTCCAGGAGAGAGGGAGGGAGGAAAAGGGGGAAAAAAGTGCTCCGCGCCGAAGGCGAGGTCCGCACTCTCCGTCCCCGCGGCTGGCGCAGGACCTCACTCGAGCGGAGCGCCCACGGGGAGCGGGTCGCGGGGCGGCGGCGGCGAGGAGGAGGCGAGAAGGAGTTGGAGGAGGAGGAGGAGGAGGCGAGGGCGAGCTAGCCCAGCGGGGTCCCGGCCGCCCCGCGGGCCAAAGTCGAGCCCTCCCGCCCGTGGGCGAGCGCGCCAGCCGCCCCTTCCAGAACAGCCGCCGCCACAAAGAAGAACGGGGGGTGCCGAGGTCCCCATGACCTCCTAAAGTGGTGCGGTCCCTGCTGAGTGCGCTGCCCGGGCCGTGACCCGCGCCCCTGTGCGTCCCCGCGCGCCTCCGAGCGCCCCTGTGCGCCCCGGCCCGCGCCCCGCCGGCATGGACGTCCATACCCGCTGGAAAGCGCGCAGCGCGCTCCGCCCGGGCGCCCCGCTGCTGCCCCCGCTGCTGCGGCTGCTGCTGTGGGCGCCGCCTCCGAGCCGCGCAGGTAAGGGCGCCCCGGGGCGCGGGGCTGCGGGATGGGGCGCGCGCAGCCCGGGCGCCGCTGTCATCCCCGGGCGCCTTCGCCCGCAGAACTTTTCTTCCTTGGCCTGTGGAATGCACGGGCCAAGACCACGAATGCCATTTGCTGGGGGCCCCCCCGAGATGACGACACGCAGACACAATGCCCGCGGGCGCGCCGCCGCCCCCTCCCCAGACGGGCGGGTCGGGTGGGGCTGTCGCGCGAGCCGAGGAAGGACCGAGGGCTGGATCAGCAGGAGGGGTTGTCCACGAGGCGGGCAAACTTTTGTCCCAAAAACCTTCCTTCTCTGTCCCACATCACAGGCGCCCAGCTTGGGCCCTCACAGCCCTACAGCAGAACTTCCTCTGCTCCAAACCGGGCAGGGCCGCCCCCTAGAGTTACAGCCCTTCAAATCCCGGGACTCCTGGGGATGGGGGGAATCCCAGAAGCCTGGGCCCCCAGCACTGAACTTCCCCCAGGCACTGTCACTCTAGGCTGAGCTGGCGCCCTGCTTTCCCCAGGGACAGCGTTTCCTGCAGCCTTGGTCACCTAAGTGTTCGGGGGCACTGGGGACCCCTGCAGGGTGGTAGACAGCCCTGCTCCTAATCCCACCCCCAAACTTCTTGATCCCTGGAAGGCAGCTTTTCCTGGATTCGCTGCTGAGAGATGGGATGCGTGGAGCAAAGCCAGAGATGGGCTTGCAGGCGGGGCTGTGAGTGGTTGGGATGATATGCAGATGTGGGATTCCTTCTGCCAAGGGTCAGCCCTTAGAAGGAGGCTTGCTTCCCGGGGAGGGCGCTTCAAGGCGGGGACTGTCTGCGTCCCTGCCTGGGTTCTCGAGGGTTCAACTCTCCCTGGCGCAGCTTCCTGACGGGGGAGTTTTTCTAGGCATCGCTCTTGGTAGTTAGTGGCGGGGTGGGTTTTCACAGACTCTCGAACATCAGAGCCCCCAGCCCTGGAAGGTCCCCCGAATCCTTATTGACAGGCGGGGAGATGGAGGCTCAGAGCTGTGTGCTGCCAGGTCAGGAGAAGTGGCGGGCAGAGCGATGGGACGGTGGGCTCAGCGAACGTCTGGACCAGCCCGCCGCCTGCCAGCAAGAATGCTTCTCTCTGCTTCACGATTGGAAGACAAGTGGGAAGAATCATTGTCCGTGTTCCGCTTGTCAATTAAAACACTCTTTTCCTTTTTCCCTGGCACGATCAGTGCTTGTTGGGCTAACTGGATGAGCTGGAGTCTGGGTGTGGGGGCTGCCCTGGGGCTCTGGGGGAGGAGCCAGGAGCCTGGCCTGGCTCCCAGGACCTGGGATCTCATCCCTGGGCCGCCACCAACTCTCTCCTGACCCTGGGCTAACTGGGCTTGTGTTTCTCCAGGGGTTAGCTGAAGGTGGGGGACAACAGAGGTCCCCAGAAAAGTGGAGAGGAGAAGGAAGGTGTGGTCAGGGACTGTGCCATTGCCGGGGGACTAGGCCCTGTCTCAGCGCCTCTGGGGACTTTTCCCCAGAAACTCAGGAGGGAGTCCTTCAGGGGAATCGTCACCCTAGACAGCTGGGGCAGGGCACTGCCTGGGGACCATGCACCGGACTGGGCTTGGGGTTCCATTTCCCTCCCTGCCCATCTCCCCACCTCCACACTGTCTTTTTCCCTCTCTGGTTGCCCTCGCTAATCGAAGTGCGGCTCGTTGGAAGTGGGAGTGAGGATGGCCCAGAGCAGCAGGCTATGGAGTTGGACATTTTGCTTTTGTCAGAACAGACTTTTAGAAGCATGTGGAGAGACCACTTTTCTTAGTGAGTTTTGCCAACGTCTCTCCACCTCCCAGGGTGGGACCTATTTGGAAGTCATCCTTCGAGCATGGCCAGAGGGGGCGGCTGTCCACTGGAGATGCAGGCGCTGGGGGGAGGGGGCGGCTGTCCACTGGAGATGCAGGCGTGGCGGGGAGGGGGCGGCTGTCCACTGGAGATGCAGGCGCTGGGGGGAGGGGGCGGCTGTCCACTGGAGAT
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Task1_train_13460
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Here is a mutation in COL5A1 (collagen type V alpha 1 chain) on Chromosome 9. Determine whether it’s benign or pathogenic. If the latter, what disease does it cause?
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Pathogenic; Ehlers-Danlos syndrome, classic type, 1
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AGTGGCTGCAGGTTAACCAACGCACAGACACGCACACAGGCACACACACAAACACACACATGCACACAACTCACACACATTTTTGCCTGATCACATATGCCTTATACAAGTTGTAAAACAAAATAAAATCAACAAGGAAACAGGTCAGAACTAACATTTGCTTTACTGAATGTATCTCAAGCACCTCCCCACGTCTGTGTGTGAAGAGCTTCTCATTCTTTTCCTGCGAAATATTTGATATCTATGCAAGCGCATGTGGCAGATATGGAGACTAAAAGCCTCATCACCAAGTTAGCAACAGCGACCTATCACCCAGCTCCGGAGCCTGCCATGGCTATCCTGGCAAACCTAACCTCGGACGCCTCTCTCACCTCCTGTTTCCAGAATGGTGAGAATTAAAGAGCATTTGGGGAATTTCACGCCCAGTCTGGAGATGTAACTGGAGAGGGGAGTCCCAGCCCTGTCTGGCATCTCTGGCTAAATTGTTTGTTCAAAGGGAATGGGGATGGCCCAGGGTTTGCAAATCGTTCTTAATTCATTCTGATTCCCTCCTTTTAAAAAACTAGCCCTGCAGCCCTTGGGGAAGGGGTGTGGGTCAGGCTTCAGGAGGCTGTGCAGGGAGGCCAGGCCTGGGGAAGCTGGAGGGAGAGACGCCCACCTACCACCCAGAGACTGGCGGGCCTCCTGCTGGAGGAGACCCCGAGGGGCTTAAAGAAGCCAGGCAGGAGAATCAGGGCCCCAGCTCTTCTCCGAGAGCAGCCGATCAGGAATGCCTTCTCCCTGCGCCAGCTGTCACTCCCAAGGGGATGCCTTCTTTGGTTTCCTTTTTATTGCAGAGGGGCCACCAGGGAGTGGGCAGGAGTGAGGGGTGAGAGCCTGGGGGCCGCAGAGCCAAACTTCGCCTGATTAATAACCCAGATGTTCCCGTCCAAGCACATGGAGGTCCCGGGAGCTCTTGGGAAGTCAGACCCCAGCTCGGTCCCGTGCCAATCTGCAGTTAGGAGGCAGGTCCTCGGTCCGGGTTGACACGTAGGCCACAGTCTTGGGCGCCCTGATCTGGCTGGATGGGAAGTTTAGTCTCCACCCAGAAGAGGAGCTCTGAACTCCTCCACGTTAAAGAAAAAGTTAGGCGGGGTAAACTGCAACTTTCTTTTTAACCCGAAGTGATCAAACCTCGGGGCCCCTCTGCACTGGTTCTTGGAGCATGGCCAGGTGCGGGCACCTGGGGTGGGAACAGTGGGGGGACCAGGGTGGGCCCCTGGGCTCCGAGGCCGCCCCAGGCCCGCCCGCCTACCGGCTCTCAGAGAAAGAACAGGGGGCCGCGCCCGCCCCACGTCCGCTCCGCCCCGGGCCAGCCCCTTCCTCGCTGCGACTCGCCCGCTGTCCCCACCCCCTCGCCCGCGGCGCCCAGTGGGAGGCGGGGGCTGGCCTCGCCGAGCCCAGCGCCGGGCTCTGATTTGCTGCGGGCGTTGGGGATCGACAGCCTCCGCGGCTGCCTTCCAGGAGAGAGGGAGGGAGGAAAAGGGGGAAAAAAGTGCTCCGCGCCGAAGGCGAGGTCCGCACTCTCCGTCCCCGCGGCTGGCGCAGGACCTCACTCGAGCGGAGCGCCCACGGGGAGCGGGTCGCGGGGCGGCGGCGGCGAGGAGGAGGCGAGAAGGAGTTGGAGGAGGAGGAGGAGGAGGCGAGGGCGAGCTAGCCCAGCGGGGTCCCGGCCGCCCCGCGGGCCAAAGTCGAGCCCTCCCGCCCGTGGGCGAGCGCGCCAGCCGCCCCTTCCAGAACAGCCGCCGCCACAAAGAAGAACGGGGGGTGCCGAGGTCCCCATGACCTCCTAAAGTGGTGCGGTCCCTGCTGAGTGCGCTGCCCGGGCCGTGACCCGCGCCCCTGTGCGTCCCCGCGCGCCTCCGAGCGCCCCTGTGCGCCCCGGCCCGCGCCCCGCCGGCATGGACGTCCATACCCGCTGGAAAGCGCGCAGCGCGCTCCGCCCGGGCGCCCCGCTGCTGCCCCCGCTGCTGCTGCTGCTGCTGTGGGCGCCGCCTCCGAGCCGCGCAGGTAAGGGCGCCCCGGGGCGCGGGGCTGCGGGATGGGGCGCGCGCAGCCCGGGCGCCGCTGTCATCCCCGGGCGCCTTCGCCCGCAGAACTTTTCTTCCTTGGCCTGTGGAATGCACGGGCCAAGACCACGAATGCCATTTGCTGGGGGCCCCCCCGAGATGACGACACGCAGACACAATGCCCGCGGGCGCGCCGCCGCCCCCTCCCCAGACGGGCGGGTCGGGTGGGGCTGTCGCGCGAGCCGAGGAAGGACCGAGGGCTGGATCAGCAGGAGGGGTTGTCCACGAGGCGGGCAAACTTTTGTCCCAAAAACCTTCCTTCTCTGTCCCACATCACAGGCGCCCAGCTTGGGCCCTCACAGCCCTACAGCAGAACTTCCTCTGCTCCAAACCGGGCAGGGCCGCCCCCTAGAGTTACAGCCCTTCAAATCCCGGGACTCCTGGGGATGGGGGGAATCCCAGAAGCCTGGGCCCCCAGCACTGAACTTCCCCCAGGCACTGTCACTCTAGGCTGAGCTGGCGCCCTGCTTTCCCCAGGGACAGCGTTTCCTGCAGCCTTGGTCACCTAAGTGTTCGGGGGCACTGGGGACCCCTGCAGGGTGGTAGACAGCCCTGCTCCTAATCCCACCCCCAAACTTCTTGATCCCTGGAAGGCAGCTTTTCCTGGATTCGCTGCTGAGAGATGGGATGCGTGGAGCAAAGCCAGAGATGGGCTTGCAGGCGGGGCTGTGAGTGGTTGGGATGATATGCAGATGTGGGATTCCTTCTGCCAAGGGTCAGCCCTTAGAAGGAGGCTTGCTTCCCGGGGAGGGCGCTTCAAGGCGGGGACTGTCTGCGTCCCTGCCTGGGTTCTCGAGGGTTCAACTCTCCCTGGCGCAGCTTCCTGACGGGGGAGTTTTTCTAGGCATCGCTCTTGGTAGTTAGTGGCGGGGTGGGTTTTCACAGACTCTCGAACATCAGAGCCCCCAGCCCTGGAAGGTCCCCCGAATCCTTATTGACAGGCGGGGAGATGGAGGCTCAGAGCTGTGTGCTGCCAGGTCAGGAGAAGTGGCGGGCAGAGCGATGGGACGGTGGGCTCAGCGAACGTCTGGACCAGCCCGCCGCCTGCCAGCAAGAATGCTTCTCTCTGCTTCACGATTGGAAGACAAGTGGGAAGAATCATTGTCCGTGTTCCGCTTGTCAATTAAAACACTCTTTTCCTTTTTCCCTGGCACGATCAGTGCTTGTTGGGCTAACTGGATGAGCTGGAGTCTGGGTGTGGGGGCTGCCCTGGGGCTCTGGGGGAGGAGCCAGGAGCCTGGCCTGGCTCCCAGGACCTGGGATCTCATCCCTGGGCCGCCACCAACTCTCTCCTGACCCTGGGCTAACTGGGCTTGTGTTTCTCCAGGGGTTAGCTGAAGGTGGGGGACAACAGAGGTCCCCAGAAAAGTGGAGAGGAGAAGGAAGGTGTGGTCAGGGACTGTGCCATTGCCGGGGGACTAGGCCCTGTCTCAGCGCCTCTGGGGACTTTTCCCCAGAAACTCAGGAGGGAGTCCTTCAGGGGAATCGTCACCCTAGACAGCTGGGGCAGGGCACTGCCTGGGGACCATGCACCGGACTGGGCTTGGGGTTCCATTTCCCTCCCTGCCCATCTCCCCACCTCCACACTGTCTTTTTCCCTCTCTGGTTGCCCTCGCTAATCGAAGTGCGGCTCGTTGGAAGTGGGAGTGAGGATGGCCCAGAGCAGCAGGCTATGGAGTTGGACATTTTGCTTTTGTCAGAACAGACTTTTAGAAGCATGTGGAGAGACCACTTTTCTTAGTGAGTTTTGCCAACGTCTCTCCACCTCCCAGGGTGGGACCTATTTGGAAGTCATCCTTCGAGCATGGCCAGAGGGGGCGGCTGTCCACTGGAGATGCAGGCGCTGGGGGGAGGGGGCGGCTGTCCACTGGAGATGCAGGCGTGGCGGGGAGGGGGCGGCTGTCCACTGGAGATGCAGGCGCTGGGGGGAGGGGGCGGCTGTCCACTGGAGATGCAGGCACTGGGGGAAGGGGGCGGCTGTCCACTGG
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AGTGGCTGCAGGTTAACCAACGCACAGACACGCACACAGGCACACACACAAACACACACATGCACACAACTCACACACATTTTTGCCTGATCACATATGCCTTATACAAGTTGTAAAACAAAATAAAATCAACAAGGAAACAGGTCAGAACTAACATTTGCTTTACTGAATGTATCTCAAGCACCTCCCCACGTCTGTGTGTGAAGAGCTTCTCATTCTTTTCCTGCGAAATATTTGATATCTATGCAAGCGCATGTGGCAGATATGGAGACTAAAAGCCTCATCACCAAGTTAGCAACAGCGACCTATCACCCAGCTCCGGAGCCTGCCATGGCTATCCTGGCAAACCTAACCTCGGACGCCTCTCTCACCTCCTGTTTCCAGAATGGTGAGAATTAAAGAGCATTTGGGGAATTTCACGCCCAGTCTGGAGATGTAACTGGAGAGGGGAGTCCCAGCCCTGTCTGGCATCTCTGGCTAAATTGTTTGTTCAAAGGGAATGGGGATGGCCCAGGGTTTGCAAATCGTTCTTAATTCATTCTGATTCCCTCCTTTTAAAAAACTAGCCCTGCAGCCCTTGGGGAAGGGGTGTGGGTCAGGCTTCAGGAGGCTGTGCAGGGAGGCCAGGCCTGGGGAAGCTGGAGGGAGAGACGCCCACCTACCACCCAGAGACTGGCGGGCCTCCTGCTGGAGGAGACCCCGAGGGGCTTAAAGAAGCCAGGCAGGAGAATCAGGGCCCCAGCTCTTCTCCGAGAGCAGCCGATCAGGAATGCCTTCTCCCTGCGCCAGCTGTCACTCCCAAGGGGATGCCTTCTTTGGTTTCCTTTTTATTGCAGAGGGGCCACCAGGGAGTGGGCAGGAGTGAGGGGTGAGAGCCTGGGGGCCGCAGAGCCAAACTTCGCCTGATTAATAACCCAGATGTTCCCGTCCAAGCACATGGAGGTCCCGGGAGCTCTTGGGAAGTCAGACCCCAGCTCGGTCCCGTGCCAATCTGCAGTTAGGAGGCAGGTCCTCGGTCCGGGTTGACACGTAGGCCACAGTCTTGGGCGCCCTGATCTGGCTGGATGGGAAGTTTAGTCTCCACCCAGAAGAGGAGCTCTGAACTCCTCCACGTTAAAGAAAAAGTTAGGCGGGGTAAACTGCAACTTTCTTTTTAACCCGAAGTGATCAAACCTCGGGGCCCCTCTGCACTGGTTCTTGGAGCATGGCCAGGTGCGGGCACCTGGGGTGGGAACAGTGGGGGGACCAGGGTGGGCCCCTGGGCTCCGAGGCCGCCCCAGGCCCGCCCGCCTACCGGCTCTCAGAGAAAGAACAGGGGGCCGCGCCCGCCCCACGTCCGCTCCGCCCCGGGCCAGCCCCTTCCTCGCTGCGACTCGCCCGCTGTCCCCACCCCCTCGCCCGCGGCGCCCAGTGGGAGGCGGGGGCTGGCCTCGCCGAGCCCAGCGCCGGGCTCTGATTTGCTGCGGGCGTTGGGGATCGACAGCCTCCGCGGCTGCCTTCCAGGAGAGAGGGAGGGAGGAAAAGGGGGAAAAAAGTGCTCCGCGCCGAAGGCGAGGTCCGCACTCTCCGTCCCCGCGGCTGGCGCAGGACCTCACTCGAGCGGAGCGCCCACGGGGAGCGGGTCGCGGGGCGGCGGCGGCGAGGAGGAGGCGAGAAGGAGTTGGAGGAGGAGGAGGAGGAGGCGAGGGCGAGCTAGCCCAGCGGGGTCCCGGCCGCCCCGCGGGCCAAAGTCGAGCCCTCCCGCCCGTGGGCGAGCGCGCCAGCCGCCCCTTCCAGAACAGCCGCCGCCACAAAGAAGAACGGGGGGTGCCGAGGTCCCCATGACCTCCTAAAGTGGTGCGGTCCCTGCTGAGTGCGCTGCCCGGGCCGTGACCCGCGCCCCTGTGCGTCCCCGCGCGCCTCCGAGCGCCCCTGTGCGCCCCGGCCCGCGCCCCGCCGGCATGGACGTCCATACCCGCTGGAAAGCGCGCAGCGCGCTCCGCCCGGGCGCCCCGCTGCTGCCCCCGCTGCTGCTGCTGCTGCTGTGGGCGCCGCCTCCGAGCCGCGCACGTAAGGGCGCCCCGGGGCGCGGGGCTGCGGGATGGGGCGCGCGCAGCCCGGGCGCCGCTGTCATCCCCGGGCGCCTTCGCCCGCAGAACTTTTCTTCCTTGGCCTGTGGAATGCACGGGCCAAGACCACGAATGCCATTTGCTGGGGGCCCCCCCGAGATGACGACACGCAGACACAATGCCCGCGGGCGCGCCGCCGCCCCCTCCCCAGACGGGCGGGTCGGGTGGGGCTGTCGCGCGAGCCGAGGAAGGACCGAGGGCTGGATCAGCAGGAGGGGTTGTCCACGAGGCGGGCAAACTTTTGTCCCAAAAACCTTCCTTCTCTGTCCCACATCACAGGCGCCCAGCTTGGGCCCTCACAGCCCTACAGCAGAACTTCCTCTGCTCCAAACCGGGCAGGGCCGCCCCCTAGAGTTACAGCCCTTCAAATCCCGGGACTCCTGGGGATGGGGGGAATCCCAGAAGCCTGGGCCCCCAGCACTGAACTTCCCCCAGGCACTGTCACTCTAGGCTGAGCTGGCGCCCTGCTTTCCCCAGGGACAGCGTTTCCTGCAGCCTTGGTCACCTAAGTGTTCGGGGGCACTGGGGACCCCTGCAGGGTGGTAGACAGCCCTGCTCCTAATCCCACCCCCAAACTTCTTGATCCCTGGAAGGCAGCTTTTCCTGGATTCGCTGCTGAGAGATGGGATGCGTGGAGCAAAGCCAGAGATGGGCTTGCAGGCGGGGCTGTGAGTGGTTGGGATGATATGCAGATGTGGGATTCCTTCTGCCAAGGGTCAGCCCTTAGAAGGAGGCTTGCTTCCCGGGGAGGGCGCTTCAAGGCGGGGACTGTCTGCGTCCCTGCCTGGGTTCTCGAGGGTTCAACTCTCCCTGGCGCAGCTTCCTGACGGGGGAGTTTTTCTAGGCATCGCTCTTGGTAGTTAGTGGCGGGGTGGGTTTTCACAGACTCTCGAACATCAGAGCCCCCAGCCCTGGAAGGTCCCCCGAATCCTTATTGACAGGCGGGGAGATGGAGGCTCAGAGCTGTGTGCTGCCAGGTCAGGAGAAGTGGCGGGCAGAGCGATGGGACGGTGGGCTCAGCGAACGTCTGGACCAGCCCGCCGCCTGCCAGCAAGAATGCTTCTCTCTGCTTCACGATTGGAAGACAAGTGGGAAGAATCATTGTCCGTGTTCCGCTTGTCAATTAAAACACTCTTTTCCTTTTTCCCTGGCACGATCAGTGCTTGTTGGGCTAACTGGATGAGCTGGAGTCTGGGTGTGGGGGCTGCCCTGGGGCTCTGGGGGAGGAGCCAGGAGCCTGGCCTGGCTCCCAGGACCTGGGATCTCATCCCTGGGCCGCCACCAACTCTCTCCTGACCCTGGGCTAACTGGGCTTGTGTTTCTCCAGGGGTTAGCTGAAGGTGGGGGACAACAGAGGTCCCCAGAAAAGTGGAGAGGAGAAGGAAGGTGTGGTCAGGGACTGTGCCATTGCCGGGGGACTAGGCCCTGTCTCAGCGCCTCTGGGGACTTTTCCCCAGAAACTCAGGAGGGAGTCCTTCAGGGGAATCGTCACCCTAGACAGCTGGGGCAGGGCACTGCCTGGGGACCATGCACCGGACTGGGCTTGGGGTTCCATTTCCCTCCCTGCCCATCTCCCCACCTCCACACTGTCTTTTTCCCTCTCTGGTTGCCCTCGCTAATCGAAGTGCGGCTCGTTGGAAGTGGGAGTGAGGATGGCCCAGAGCAGCAGGCTATGGAGTTGGACATTTTGCTTTTGTCAGAACAGACTTTTAGAAGCATGTGGAGAGACCACTTTTCTTAGTGAGTTTTGCCAACGTCTCTCCACCTCCCAGGGTGGGACCTATTTGGAAGTCATCCTTCGAGCATGGCCAGAGGGGGCGGCTGTCCACTGGAGATGCAGGCGCTGGGGGGAGGGGGCGGCTGTCCACTGGAGATGCAGGCGTGGCGGGGAGGGGGCGGCTGTCCACTGGAGATGCAGGCGCTGGGGGGAGGGGGCGGCTGTCCACTGGAGATGCAGGCACTGGGGGAAGGGGGCGGCTGTCCACTGG
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Task1_train_13461
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A variant found in Chromosome 9 affects COL5A1 (collagen type V alpha 1 chain). Please analyze its biological impact: is it benign or pathogenic, and what condition might it cause?
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Pathogenic; Ehlers-Danlos syndrome, classic type, 1
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CGTTCATCGCGGTGCTCACCGCTGCCATAACCACATGCACTGTCTCCCTAGGGCGAGCCTGGCGAAGCAGGTGAGCCTGGCCTTCCGGGAGAAGGCGGCCCCCCGGTGAGTGAGCGGGCGCTGCGGGAGGGGTGGGATATGGCCGAGCGGGTGTGTGGACGGGGTGCTGGGTTGGAGGCTCTGGCTCTGCCTTAGCTTTTCCATCCACGAAATGGGAGTTGTAACCCCTCTTGTGCCCATTTCATGGAATGACCGTGAACAAGGTGTGTGATGTGGGAGTCAGCATGTACACGCAGACCTAGCAATAGCTACCTGTGCCCAGTGGCCTGCAGTAACTCTACCCTCTGTAGTGTTTGCTCCTGGCCCCTTCGCGGGGCAGCTGCTGTCACCTCGTCCCCCCGGACCTTGAGGGCCAGACTAGGAATATCCAGGCCTTCTCAGGCCAGATGAATGTTCACTATGAGGCCAGCCCAAAGGTGGCTTTCAGGCCCAGGACCAGCTGGGTGGACTCGGGTCTTCTGGTTCTAGCTGCTCCCTCCCCATGAGATCCGTGGAGTCTGTGGGCACCCCTTGTGGTCTTCACTGACTGATGTCTGGTCCAGGAGTCAGTCCCTCCCACCCAGAGCTGAATCTCAGGCTTTGAGGGCCCCAGAAAGTGAAGGCTCCTCAGGTCCCCCTCAGGGTGCACACAGGAGCTGATTCTGCCCAGGGCTTGGGGAGCGACCTGGCAGCCAGCCCCCTGCAGGGCTCAGCAGATACTTGGAAAGGCTGGTCTGAATGGGGTGAGAAAACCGGGGAGGCCCACCTTGCTCTGGGCGGCGACGTGGTTGGCTCTGAGGACTTGACACTGGCCTCTTTCCTCCAGGGACCCAAAGGAGAAAGGGGAGAGAAGGGCGAGTCAGGCCCTTCAGGTGCTGCCGGACCCCCTGGACCCAAAGGCCCTCCCGGAGATGATGGTCCCAAAGGCAGCCCTGTGAGTATTCCAGACACACCTCAGGGGCCCTGCAGCAGGGGCGGGGCTCTGCACTGGGATCATTCTGACTCACTGGCGGTGCACTCTGCTCTGAGAACAGCTTCAAGACCATTCCATGTGTTGGGTAAATTTTCTAGACACTAGAGGTTTTCATACCAGCTACTGAACCAAAATAGTGGAGATGAGACAGGGCGTGGACTGGAGGAGAAAGCCCTGAGTGATTCTTCTCTGTGGGCCAGGCGGCCGGCTGAGATGCACGAGTGACAGCCAGGCTTTGGGAAGTTGCCCCCGCCCTTGGCCGGCCCTGATTTTGCATCAGGAGGGGCTTCGGAGAGGCACATTCCGGAAGTCTGAAGGTCCAGGTTCTAGTTGCAGCCTGGAGCTCCCAGGAATAGACCTGTGGGCGGAACGCCTGCCCCTTGCTTGGCTCTGGAAAGCAAGAGACCAGCTGACCCCTGCCATGCCCACTGGCCAGGCTTGCTGGCTCTGGGACATGCTGCACGTGGAAGGGTCTCTGGGCCATAAAGTGCACTGGGTTGTCGGAACTGCTGGAAAGTCTTAGGAGCTGGACGGTGGCAGGTGGCCATCTTGAGGTGGTGACATGATTGGCCGTGTGTGGTCTCAGTCAGGTTGCTGATGGCCTTGGCTGCTTCCTTCTTTCTTCCTTTCAGGGCCCAGTGGGTTTTCCTGGAGATCCTGGCCCCCCCGGAGAGCCTGGCCCCGCGGTAGGTGCTCAAGAGGGCAAAGCCACCGGATCCCCCACAGTGCTGGCCTGCCTCTGCCAGCCCCATTTCCCCTCTTTCTGGTGGTTCTTTGTGATGAACTCCCACTGGGGCAGGCAATGTCCCAAAAGGCACTCGTGTTCCGGTGATCAGAGCAAGAAAACGCCTTTGACCCCACTGACCATGCTCTGTGCTGGCACCAGAATGGATTTGGGTTTTGGGAAGGGGCTGGAGATGCATTGGGAACTGGTGCATGAACTCAGGGTGCCATCCGGGGTTCAGCAAGGAGCTCGCTTTTGCCTCCATAGGGTCAAGATGGTCCCCCTGGTGACAAAGGAGATGATGGTGAACCCGGGCAGACGGTGAGTCCACAATCTGGGCTGGCTTCCTGGTGGAGGTGTCAGTGTATTCTTGGGACCTTGCAGCTTGCTTGACTCATTTCTGGGAAAAACTCCAACCTAGTTGATATTGATTCCTTTATGATATCGATTCCCTTATGATATTGATTCCCTTATGATGTTGATTCCCTTATGATATTGATTCTGGACAGTGACAGAGCTCATGAACTCCCTCTGAGATGCACGTGCTGTCTCAGCAGCAGGTTTGCAGGCAGCCCCAGGGCTTCCACGACCCACCATGGGCTCGCCCGGGAACGTCAGATCTTACCCACAGCTCTGCCTAGCAGGGCCAGTGCCTCTCCTCACCAGGCCCTTCCTGCCTTACCTTGACCGAGATCACACTGGACGTTGCATCTGACGCTTGGCGTTGAGTGTTTTAAACACCGCTTCAAGCCCAGAACGTCTTTCTGGGACGGATCGACCCCCATGGGCCCTGGGCAGGACTGGGCCTGGAGGAGGCCCCTGAGGCCTTGCAGATGCCCTTGCCCCACCTTGCACCCAGCCTGGCCAAGCGCGGGGGACTGCGGACCTGAGGGCAAAGGCCATGTCACTGAGTTGAGAGGAGCGTCCACTCAGAGAAGGGGTTAGGGATCTAGCCTCGGGCTGGATTTCCCTGACAGACACCCCCAGTCCACCACTTCCCGGCCTGTGTCCTGGGACGATTCTTGTCCCCCCTTCTGTGAAAGGGGATGCCAGTGCCTCGTCCCTGCCCAGGTTGTGGTGGGGACCGAACCGTCATTGTGTATCAAGAGTCAGCACTGTGAGTGGGGAAGTTCTCTTCCAAAATGCAGAAAACCCGCAGGATGGGAGTTGGGGTTCCTTACGCTGTCACAGCCCGGGTGCGACACTGTCTTAGGACCCTCTGTGCTAGCCCCAAAAGAAGAGAGAGGCGGCCGCAGGGCTGGCCGAGGAGTAAATAGACTGAAATCGCCATGTGTTTTGCCTCAATTGAGTCTAACGGGCCCCAATTCCTCACACTCTGTTCTTTCTCCCAATACCAGGGATCCCCCGGCCCTACTGGTGAACCAGGTCCATCGGGGCCTCCAGGAAAAAGGGTAAATAATCCTGCAGGCACATCCTTGCTGTCAAATCCCTGCATGAAACACCCCCGCCCCTCCCCGTCACCTTTGCTTGGGCCCTGGGTGCTCTAAGCTGCACTGATGAGGAAGGGCTCGGGTGTGGCATGTTCTCCACTTAGCCTCGGCCACATCATCACCTAATCACAGGCTTGCCAGGTCGACGCAGCTGCTCCTTTTAGGACAGGCCGCCTGCTGACACGGTCAGTGATATCCATGGTGGGAGAAAGACACCCGCAAAGCTGCAAAGGTCCTTTTCCCCTGGCTCAGGTTTTACTGAAAAGCCAGAACAAATGAGAAGGCATCTTTTGCAGATTGAATGGTCCAGCCACTTGCTGGTGGGGCAGTAAACAGCTGCCTGGTGCACCCAGGACGGAGGCCACACACAACTCGCGGCGTGCACTGCGCCTCCCCACGTGGCCTGAGAGGCCTTTACCTGGGACTGGAGTCCATAGGACTCATGCTGAGGACCCGTGTCACTGCGGGTGGCCCGGGAGCAGCCTCCATGACCCTGCACCCCTGCCCTGCAGCCCGGCACACCCTGAGCACCTGCACCCGAGCTCGTCCCTCTGCCCCTGCAGGCCACACACACACACACCCTGAGCGCCTGCACCCGAGCTCGTCCCTCCACCCCTGCAGGCCACACTCACCACCTGCTGTTCTCTTGCTTCTTTCAGGGTCCCCCAGGCCCCGCAGGCCCCGAAGGCAGACAGGGAGAGAAAGGGGCCAAGGTAACGTGTTTTGGAGCCAGGCTGTGACCGCGTAGACCTCCCCCAGGGGAGCCCAGAGGGTGGGGAGTGGACAAGCGTGTGGGCAGAGATGTCCATGGAGGCTGAGAGTGGCTGCCCCAGGGGCACCTGGCTCATGGCCTACCTGGGGAGGAGACCTGGTTCTCTCTCAAGGAGGCAGCCAAGTGGTGGCCACAAG
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CGTTCATCGCGGTGCTCACCGCTGCCATAACCACATGCACTGTCTCCCTAGGGCGAGCCTGGCGAAGCAGGTGAGCCTGGCCTTCCGGGAGAAGGCGGCCCCCCGGTGAGTGAGCGGGCGCTGCGGGAGGGGTGGGATATGGCCGAGCGGGTGTGTGGACGGGGTGCTGGGTTGGAGGCTCTGGCTCTGCCTTAGCTTTTCCATCCACGAAATGGGAGTTGTAACCCCTCTTGTGCCCATTTCATGGAATGACCGTGAACAAGGTGTGTGATGTGGGAGTCAGCATGTACACGCAGACCTAGCAATAGCTACCTGTGCCCAGTGGCCTGCAGTAACTCTACCCTCTGTAGTGTTTGCTCCTGGCCCCTTCGCGGGGCAGCTGCTGTCACCTCGTCCCCCCGGACCTTGAGGGCCAGACTAGGAATATCCAGGCCTTCTCAGGCCAGATGAATGTTCACTATGAGGCCAGCCCAAAGGTGGCTTTCAGGCCCAGGACCAGCTGGGTGGACTCGGGTCTTCTGGTTCTAGCTGCTCCCTCCCCATGAGATCCGTGGAGTCTGTGGGCACCCCTTGTGGTCTTCACTGACTGATGTCTGGTCCAGGAGTCAGTCCCTCCCACCCAGAGCTGAATCTCAGGCTTTGAGGGCCCCAGAAAGTGAAGGCTCCTCAGGTCCCCCTCAGGGTGCACACAGGAGCTGATTCTGCCCAGGGCTTGGGGAGCGACCTGGCAGCCAGCCCCCTGCAGGGCTCAGCAGATACTTGGAAAGGCTGGTCTGAATGGGGTGAGAAAACCGGGGAGGCCCACCTTGCTCTGGGCGGCGACGTGGTTGGCTCTGAGGACTTGACACTGGCCTCTTTCCTCCAGGGACCCAAAGGAGAAAGGGGAGAGAAGGGCGAGTCAGGCCCTTCAGGTGCTGCCGGACCCCCTGGACCCAAAGGCCCTCCCGGAGATGATGGTCCCAAAGGCAGCCCTGTGAGTATTCCAGACACACCTCAGGGGCCCTGCAGCAGGGGCGGGGCTCTGCACTGGGATCATTCTGACTCACTGGCGGTGCACTCTGCTCTGAGAACAGCTTCAAGACCATTCCATGTGTTGGGTAAATTTTCTAGACACTAGAGGTTTTCATACCAGCTACTGAACCAAAATAGTGGAGATGAGACAGGGCGTGGACTGGAGGAGAAAGCCCTGAGTGATTCTTCTCTGTGGGCCAGGCGGCCGGCTGAGATGCACGAGTGACAGCCAGGCTTTGGGAAGTTGCCCCCGCCCTTGGCCGGCCCTGATTTTGCATCAGGAGGGGCTTCGGAGAGGCACATTCCGGAAGTCTGAAGGTCCAGGTTCTAGTTGCAGCCTGGAGCTCCCAGGAATAGACCTGTGGGCGGAACGCCTGCCCCTTGCTTGGCTCTGGAAAGCAAGAGACCAGCTGACCCCTGCCATGCCCACTGGCCAGGCTTGCTGGCTCTGGGACATGCTGCACGTGGAAGGGTCTCTGGGCCATAAAGTGCACTGGGTTGTCGGAACTGCTGGAAAGTCTTAGGAGCTGGACGGTGGCAGGTGGCCATCTTGAGGTGGTGACATGATTGGCCGTGTGTGGTCTCAGTCAGGTTGCTGATGGCCTTGGCTGCTTCCTTCTTTCTTCCTTTCAGGGCCCAGTGGGTTTTCCTGGAGATCCTGGCCCCCCCGGAGAGCCTGGCCCCGCGGTAGGTGCTCAAGAGGGCAAAGCCACCGGATCCCCCACAGTGCTGGCCTGCCTCTGCCAGCCCCATTTCCCCTCTTTCTGGTGGTTCTTTGTGATGAACTCCCACTGGGGCAGGCAATGTCCCAAAAGGCACTCGTGTTCCGGTGATCAGAGCAAGAAAACGCCTTTGACCCCACTGACCATGCTCTGTGCTGGCACCAGAATGGATTTGGGTTTTGGGAAGGGGCTGGAGATGCATTGGGAACTGGTGCATGAACTCAGGGTGCCATCCGGGGTTCAGCAAGGAGCTCGCTTTTGCCTCCATAGGGTCAAGATGGTCCCCCTGGTGACAAAGGAGATGATGGTGAACCCAGGCAGACGGTGAGTCCACAATCTGGGCTGGCTTCCTGGTGGAGGTGTCAGTGTATTCTTGGGACCTTGCAGCTTGCTTGACTCATTTCTGGGAAAAACTCCAACCTAGTTGATATTGATTCCTTTATGATATCGATTCCCTTATGATATTGATTCCCTTATGATGTTGATTCCCTTATGATATTGATTCTGGACAGTGACAGAGCTCATGAACTCCCTCTGAGATGCACGTGCTGTCTCAGCAGCAGGTTTGCAGGCAGCCCCAGGGCTTCCACGACCCACCATGGGCTCGCCCGGGAACGTCAGATCTTACCCACAGCTCTGCCTAGCAGGGCCAGTGCCTCTCCTCACCAGGCCCTTCCTGCCTTACCTTGACCGAGATCACACTGGACGTTGCATCTGACGCTTGGCGTTGAGTGTTTTAAACACCGCTTCAAGCCCAGAACGTCTTTCTGGGACGGATCGACCCCCATGGGCCCTGGGCAGGACTGGGCCTGGAGGAGGCCCCTGAGGCCTTGCAGATGCCCTTGCCCCACCTTGCACCCAGCCTGGCCAAGCGCGGGGGACTGCGGACCTGAGGGCAAAGGCCATGTCACTGAGTTGAGAGGAGCGTCCACTCAGAGAAGGGGTTAGGGATCTAGCCTCGGGCTGGATTTCCCTGACAGACACCCCCAGTCCACCACTTCCCGGCCTGTGTCCTGGGACGATTCTTGTCCCCCCTTCTGTGAAAGGGGATGCCAGTGCCTCGTCCCTGCCCAGGTTGTGGTGGGGACCGAACCGTCATTGTGTATCAAGAGTCAGCACTGTGAGTGGGGAAGTTCTCTTCCAAAATGCAGAAAACCCGCAGGATGGGAGTTGGGGTTCCTTACGCTGTCACAGCCCGGGTGCGACACTGTCTTAGGACCCTCTGTGCTAGCCCCAAAAGAAGAGAGAGGCGGCCGCAGGGCTGGCCGAGGAGTAAATAGACTGAAATCGCCATGTGTTTTGCCTCAATTGAGTCTAACGGGCCCCAATTCCTCACACTCTGTTCTTTCTCCCAATACCAGGGATCCCCCGGCCCTACTGGTGAACCAGGTCCATCGGGGCCTCCAGGAAAAAGGGTAAATAATCCTGCAGGCACATCCTTGCTGTCAAATCCCTGCATGAAACACCCCCGCCCCTCCCCGTCACCTTTGCTTGGGCCCTGGGTGCTCTAAGCTGCACTGATGAGGAAGGGCTCGGGTGTGGCATGTTCTCCACTTAGCCTCGGCCACATCATCACCTAATCACAGGCTTGCCAGGTCGACGCAGCTGCTCCTTTTAGGACAGGCCGCCTGCTGACACGGTCAGTGATATCCATGGTGGGAGAAAGACACCCGCAAAGCTGCAAAGGTCCTTTTCCCCTGGCTCAGGTTTTACTGAAAAGCCAGAACAAATGAGAAGGCATCTTTTGCAGATTGAATGGTCCAGCCACTTGCTGGTGGGGCAGTAAACAGCTGCCTGGTGCACCCAGGACGGAGGCCACACACAACTCGCGGCGTGCACTGCGCCTCCCCACGTGGCCTGAGAGGCCTTTACCTGGGACTGGAGTCCATAGGACTCATGCTGAGGACCCGTGTCACTGCGGGTGGCCCGGGAGCAGCCTCCATGACCCTGCACCCCTGCCCTGCAGCCCGGCACACCCTGAGCACCTGCACCCGAGCTCGTCCCTCTGCCCCTGCAGGCCACACACACACACACCCTGAGCGCCTGCACCCGAGCTCGTCCCTCCACCCCTGCAGGCCACACTCACCACCTGCTGTTCTCTTGCTTCTTTCAGGGTCCCCCAGGCCCCGCAGGCCCCGAAGGCAGACAGGGAGAGAAAGGGGCCAAGGTAACGTGTTTTGGAGCCAGGCTGTGACCGCGTAGACCTCCCCCAGGGGAGCCCAGAGGGTGGGGAGTGGACAAGCGTGTGGGCAGAGATGTCCATGGAGGCTGAGAGTGGCTGCCCCAGGGGCACCTGGCTCATGGCCTACCTGGGGAGGAGACCTGGTTCTCTCTCAAGGAGGCAGCCAAGTGGTGGCCACAAG
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Task1_train_13462
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This gene mutation involves COL5A1, LOC101448202 (collagen type V alpha 1 chain| uncharacterized LOC101448202) on Chromosome 9. Is it associated with any clinical condition, or is it benign?
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Pathogenic; Ehlers-Danlos syndrome, classic type, 1
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GGGAGCCCAAGGCTGAGTAGTTATGTCCCCCGGAGCCCTGCGACCTCATGCCTGGTCTTTGAGTCGGCCAGACCTGAGCCGCCTACCTCTGAAGTGGACCGTGTCCGATGGTGACCGTGTCTGCTGCGGGGCCCGTGCAGAAGATGGGACGCCGTCACCCATGCAGTTGGCTTGGGGCCTGGCCCAGAGCACACGGGAGGCTATTCTGTCAGTGAGGTGATGGCGGCCCGGCCTGGCACTGTCTGCCTCCCTCCTGGAGGCGCCTGTTGTTAAGGAGACGGGAGGTTGTGCGGTTCCATCCCTGCTCGGGCAGTGGCGCTGTGACACCCGGTCTGTGGTCGGCGCAGTCAGCGGAGACGGGATCCCTGCTGGCCTGGGAGATGATCGGGATGGAGACTTGACCAGGGCAGCTTCCACAGGCAATGAAATGTGGAGAATTAGGGCAACCCCGGATATGGGGTCACCTGGGACTCCTCCAGAGGTGCCCAGGGTTTCCGAGCAGTGGTCCTGGGCCAGGGTGCCTGGAGCCTAGAGCTCCGGACCTCATTCTGCCCTCCGCCGTCCTGCAGGGAGAAGCCGGCTTGGAAGGCCCTCCTGGGAAGACTGGCCCCATCGGCCCCCAGGGGGCCCCTGGGAAGCCCGGACCGGATGGCCTTCGAGGGATCCCTGGCCCTGTGGTGAGTAGGCTGTGAGGGGCAGAGGGGTTGCCGAGTGGAGGGACGGGGGACCAGCAACTCATGCAGAGCGTCTCTGTGTTTCAGGGAGAACAAGGTCTCCCAGGATCCCCAGGCCCGGACGGTCCCCCCGGCCCCATGGTGAGTCACATTCCTCATGGTGAGCATAGCGGGTGGGATGACTTCGCCACCCAAAGCCCCAAGGATGAGGACTCTGATCCCCCTGCCTCCTCCCACAGGGTCCCCCAGGACTTCCCGGCCTCAAAGGAGATTCTGGTCCCAAAGGTGAAAAGGTAAGAGGGGCCTCCCTGCCCCAGCAACTGTGACTCGGGGCCTTCAAATTTGTGGCCGTGGGTCTCAAACTCAACAAGCTCTTGATCCGTCACCTAAATGTGTCAAGCACCTGCTGCAGGCTGGTGGTGGGGAACCTGAGGGGTGACAAAGGAAAATAGACACGCTGTGTTTGAGGCTTGGCCCCTGCCTCTGGGGGGTCCTGAGCAGCTCGGGAGATCCCGGAGGCCCCTGCGGTATTGACGGAGAACCTTCCAGCTAGGCACAGAGGCCCCGGCTGATGGGTGTCCAGGATCCCAGGTTGCTGCTCTCCCTGGGCTGAGCGGCCCCAGATCCTTTCCGCAGGAGGTGTGAGGACATTTCTGCAGTGGGAGCAAAGCCCTTTTATTTTTCTAACTGCTGGGAATTGTTTTCCACTTGCATTGATTTATTTACAAACATAAAAGGTACTCAGGAGTGAGATGGTTGTATATGAAGCAGAAGGCAGTGAGGGCCCTCTCATTTCCACTCTGACGTCCGCCACCACTGCCCCCAGCCCCAAGGCAAATGAGAGCTGGGGCTGCCTTGCGAGGCTTGCCCTGGGTTCCTAGAAGACAAACATAGACAGCGAGTGTCATGGATTCTTCTTTTTTTAGAAAAACAACCCATGATTGTAATATCTATAATACTCTGCATCTTTCTTTCCGTGTCAGTCCACAAACTTTGTTTTAGTTCCGTATAGGAGCAGGCGTTCGGATTTGCCATAGGAAATTGGAGAGCGTATACGAAGAGAAAGACAGAGATAAACATTACCACTCAGGAAAACCCCTTTATCACTTTGGTCTGTCTCAGTGTCTGTGGCTCCCTGTCTGTTTTTAGACGTGACTGTGGCCAGCGAAGGGCCACCTCGGACCTGCCGTTTCGTCACCTGGCCCCTCTGTTGAGCCTGTTCCCCTTCCAGGGGAGGCTGACCATGATGTAAAGCTTCCTGTGCCATGGCTGTGCTGCGTGCTAACTGGCCCACCGTGGCCGAGCATGAGGCGTGGCTCCCTCAAATGCCCCTTCCTGTCTTCATTTTCCCACAGGGTCATCCAGGCCTGATCGGGCTCATCGGTCCTCCGGGTGAACAGGGTGAGAAGGGCGACCGTGGTCTCCCTGGCCCCCAGGGCTCCTCCGGTCCTAAGGGAGAACAGGTGCGTGAGATGGCACTTCTTGCATGTGGGCTGTCGAGAGGCATTTTAGATCCCTGGGGCAGGCACCCAGGGGACAGGAGGCCCATCAGAGCCCGGAAGGACGTCCACACGTCGGTTGAGTCCGGTCATCCTGCTTGGCAGATGGGAACACTGACGGGCTGGGCTTGCCCAGGTGCACAGTGAGCTGGGCAGAGCCGTCTCCCAGCTCCATGCCCTGACTGGCAGGCGGGGCTTCCTCCTCATGACCGTGGTGTCCCCCAGAGCTGGAGGGACTCGGAAGTCAGGTCATTCTGCCTGGTTCCCAGCCCTGTGGGAGAGCCTGTCACCCACCGCTTGCCCAGGAGGTCACTGGTGACAACCAGCCGTGTTTGCCAGAGCTGCGGGCAGAGTGGCTGTTCTGGCTCCTGCTTCCACCTTGTCCCCAGCTGCCCCCAAACTGTAGCTCATTGGAGTTTGCAGCCTCTGCAAACCATAGCCAAGGAAACGCCATGCAGAGAGCTTCACTCTGTCCCACAACTCTGAGTGACTTGGAAGTGGCCTGGGGAGGGTGACGTGTGCCATGGAGGCAGGAGAGGGGATGAGGTGACCTGTAGTGCCTCTGTCCTTCCCCCATGAGGGCCACGGGTCCTTATTCCTGTGTGGGAATCTTTCCGTCCCGAGCAAGGTGTGACGGACACACACACGCACAGTATGCTGTGCCCACCCACGCCCATGCCTCATAGGATGCGGGGGACAGGGCAGGAGCAGGCAGAGCCCCTGGAGGCTGGGAGTAAGGTGGCACCCTCACTATGGGCCCGGGGAAGGTTGCAGGACATGGCTGAAGGGTGGAGCTCATTGCAAACCCTACCTCACTGGCCAGTGTCCTCCATGCCATTGACTGTTTTCCTCTGCCGGTATCCCCAGGCCACAGCAGGGTCGTCGGAGGAGTGCCGCCCAGGGTGTGGTGGCCCGGCAACCACGAGAATTAGAGAGGCATCCAGGGTCCCCACGGCCAGCGGGGAAAGCACCCCTGTGTCCACCCTGTTTGCTCACCTGCCCTCACCCCAAACCATGGTCTTGGCGGCATTGCTGATGAAGGTGTCGGGTTGGTGTGCAGGCTTGGGTAGTTGTGGGGTCCTTACAATGAGCCACAGCCCAAGTTCCTGCAGGGACAAGGTGAAGGGAGGGAAGCGCTCCCTCCCCAGTGAAATACGGCCATCAGCCCTCCGCTACCCTCGCCCCCAGCTTCTGCCCGGAGAGAGCTCTGAGTGGAATCCAGGGCTGTAGGGAGAGAGGCTGCAGGTGGCTCCAGCTGCCCGTGGCAAAGCTGGTCAAAGCTGTTCTGTGCCAGCAGCTCAGTCTGGGAGGGAGTCAGTGGGGAGAAGGGGTCTGAGCGGAGGTTCCACGCTCCAAGGATGCAGAAAGCACATTTACAGGCAGGACAGGACAGTCAGCATGGATGGGACTCCCTGCCCAACCCCTCCGGGCTTAGTTCTAGAGGGGAGACTAACACCATGAGCAGGAAACAGCAAGAGGGGCCCAAGCCAGGGCCACAATGTCAGGGCAGTGGTTTCTGTATTTCCAAATGAACGTGAAAAGAGGTGCTCAGCCTGAAGTCCTCGGTGGCCTGGGGGATGAGAGTGAGTTCCTGGCAGCCCAGCCGGGGGAGCAGTGCCGAGGGCTGGCAGCCTTGGGGTGGATGCTCAGGTCGATGGCTCCCCTGACATGCACAGCCCAGGATCAGAAAGCAGCCACAGGAGGCTGCTGAGGGGCCAAAGGGCATACCGTGGGGAAGGGACAGGGGAGCCGAGGGGTGTGGCTGGGTAGCAGGGTTGCAGCCCCGCAGCTCCTCCTCGTCTGAAGGTGATAACCTGCATTTTCTGGTCCTTTTCAGGGTATCACTGGTCCTTCTGGCCCGATTGGGCCTCCTGGGCCCCCTGGCCTGCCGGTGTGTATCTGGGAGGGGCTTGGTCATTCCTG
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GGGAGCCCAAGGCTGAGTAGTTATGTCCCCCGGAGCCCTGCGACCTCATGCCTGGTCTTTGAGTCGGCCAGACCTGAGCCGCCTACCTCTGAAGTGGACCGTGTCCGATGGTGACCGTGTCTGCTGCGGGGCCCGTGCAGAAGATGGGACGCCGTCACCCATGCAGTTGGCTTGGGGCCTGGCCCAGAGCACACGGGAGGCTATTCTGTCAGTGAGGTGATGGCGGCCCGGCCTGGCACTGTCTGCCTCCCTCCTGGAGGCGCCTGTTGTTAAGGAGACGGGAGGTTGTGCGGTTCCATCCCTGCTCGGGCAGTGGCGCTGTGACACCCGGTCTGTGGTCGGCGCAGTCAGCGGAGACGGGATCCCTGCTGGCCTGGGAGATGATCGGGATGGAGACTTGACCAGGGCAGCTTCCACAGGCAATGAAATGTGGAGAATTAGGGCAACCCCGGATATGGGGTCACCTGGGACTCCTCCAGAGGTGCCCAGGGTTTCCGAGCAGTGGTCCTGGGCCAGGGTGCCTGGAGCCTAGAGCTCCGGACCTCATTCTGCCCTCCGCCGTCCTGCAGGGAGAAGCCGGCTTGGAAGGCCCTCCTGGGAAGACTGGCCCCATCGGCCCCCAGGGGGCCCCTGGGAAGCCCGGACCGGATGGCCTTCGAGGGATCCCTGGCCCTGTGGTGAGTAGGCTGTGAGGGGCAGAGGGGTTGCCGAGTGGAGGGACGGGGGACCAGCAACTCATGCAGAGCGTCTCTGTGTTTCAGGGAGAACAAGGTCTCCCAGGATCCCCAGGCCCGGACGGTCCCCCCGGCCCCATGGTGAGTCACATTCCTCATGGTGAGCATAGCGGGTGGGATGACTTCGCCACCCAAAGCCCCAAGGATGAGGACTCTGATCCCCCTGCCTCCTCCCACAGGGTCCCCCAGGACTTCCCGGCCTCAAAGGAGATTCTGGTCCCAAAGGTGAAAAGGTAAGAGGGGCCTCCCTGCCCCAGCAACTGTGACTCGGGGCCTTCAAATTTGTGGCCGTGGGTCTCAAACTCAACAAGCTCTTGATCCGTCACCTAAATGTGTCAAGCACCTGCTGCAGGCTGGTGGTGGGGAACCTGAGGGGTGACAAAGGAAAATAGACACGCTGTGTTTGAGGCTTGGCCCCTGCCTCTGGGGGGTCCTGAGCAGCTCGGGAGATCCCGGAGGCCCCTGCGGTATTGACGGAGAACCTTCCAGCTAGGCACAGAGGCCCCGGCTGATGGGTGTCCAGGATCCCAGGTTGCTGCTCTCCCTGGGCTGAGCGGCCCCAGATCCTTTCCGCAGGAGGTGTGAGGACATTTCTGCAGTGGGAGCAAAGCCCTTTTATTTTTCTAACTGCTGGGAATTGTTTTCCACTTGCATTGATTTATTTACAAACATAAAAGGTACTCAGGAGTGAGATGGTTGTATATGAAGCAGAAGGCAGTGAGGGCCCTCTCATTTCCACTCTGACGTCCGCCACCACTGCCCCCAGCCCCAAGGCAAATGAGAGCTGGGGCTGCCTTGCGAGGCTTGCCCTGGGTTCCTAGAAGACAAACATAGACAGCGAGTGTCATGGATTCTTCTTTTTTTAGAAAAACAACCCATGATTGTAATATCTATAATACTCTGCATCTTTCTTTCCGTGTCAGTCCACAAACTTTGTTTTAGTTCCGTATAGGAGCAGGCGTTCGGATTTGCCATAGGAAATTGGAGAGCGTATACGAAGAGAAAGACAGAGATAAACATTACCACTCAGGAAAACCCCTTTATCACTTTGGTCTGTCTCAGTGTCTGTGGCTCCCTGTCTGTTTTTAGACGTGACTGTGGCCAGCGAAGGGCCACCTCGGACCTGCCGTTTCGTCACCTGGCCCCTCTGTTGAGCCTGTTCCCCTTCCAGGGGAGGCTGACCATGATGTAAAGCTTCCTGTGCCATGGCTGTGCTGCGTGCTAACTGGCCCACCGTGGCCGAGCATGAGGCGTGGCTCCCTCAAATGCCCCTTCCTGTCTTCATTTTCCCACAGGGTCATCCAGGCCTGATCGAGCTCATCGGTCCTCCGGGTGAACAGGGTGAGAAGGGCGACCGTGGTCTCCCTGGCCCCCAGGGCTCCTCCGGTCCTAAGGGAGAACAGGTGCGTGAGATGGCACTTCTTGCATGTGGGCTGTCGAGAGGCATTTTAGATCCCTGGGGCAGGCACCCAGGGGACAGGAGGCCCATCAGAGCCCGGAAGGACGTCCACACGTCGGTTGAGTCCGGTCATCCTGCTTGGCAGATGGGAACACTGACGGGCTGGGCTTGCCCAGGTGCACAGTGAGCTGGGCAGAGCCGTCTCCCAGCTCCATGCCCTGACTGGCAGGCGGGGCTTCCTCCTCATGACCGTGGTGTCCCCCAGAGCTGGAGGGACTCGGAAGTCAGGTCATTCTGCCTGGTTCCCAGCCCTGTGGGAGAGCCTGTCACCCACCGCTTGCCCAGGAGGTCACTGGTGACAACCAGCCGTGTTTGCCAGAGCTGCGGGCAGAGTGGCTGTTCTGGCTCCTGCTTCCACCTTGTCCCCAGCTGCCCCCAAACTGTAGCTCATTGGAGTTTGCAGCCTCTGCAAACCATAGCCAAGGAAACGCCATGCAGAGAGCTTCACTCTGTCCCACAACTCTGAGTGACTTGGAAGTGGCCTGGGGAGGGTGACGTGTGCCATGGAGGCAGGAGAGGGGATGAGGTGACCTGTAGTGCCTCTGTCCTTCCCCCATGAGGGCCACGGGTCCTTATTCCTGTGTGGGAATCTTTCCGTCCCGAGCAAGGTGTGACGGACACACACACGCACAGTATGCTGTGCCCACCCACGCCCATGCCTCATAGGATGCGGGGGACAGGGCAGGAGCAGGCAGAGCCCCTGGAGGCTGGGAGTAAGGTGGCACCCTCACTATGGGCCCGGGGAAGGTTGCAGGACATGGCTGAAGGGTGGAGCTCATTGCAAACCCTACCTCACTGGCCAGTGTCCTCCATGCCATTGACTGTTTTCCTCTGCCGGTATCCCCAGGCCACAGCAGGGTCGTCGGAGGAGTGCCGCCCAGGGTGTGGTGGCCCGGCAACCACGAGAATTAGAGAGGCATCCAGGGTCCCCACGGCCAGCGGGGAAAGCACCCCTGTGTCCACCCTGTTTGCTCACCTGCCCTCACCCCAAACCATGGTCTTGGCGGCATTGCTGATGAAGGTGTCGGGTTGGTGTGCAGGCTTGGGTAGTTGTGGGGTCCTTACAATGAGCCACAGCCCAAGTTCCTGCAGGGACAAGGTGAAGGGAGGGAAGCGCTCCCTCCCCAGTGAAATACGGCCATCAGCCCTCCGCTACCCTCGCCCCCAGCTTCTGCCCGGAGAGAGCTCTGAGTGGAATCCAGGGCTGTAGGGAGAGAGGCTGCAGGTGGCTCCAGCTGCCCGTGGCAAAGCTGGTCAAAGCTGTTCTGTGCCAGCAGCTCAGTCTGGGAGGGAGTCAGTGGGGAGAAGGGGTCTGAGCGGAGGTTCCACGCTCCAAGGATGCAGAAAGCACATTTACAGGCAGGACAGGACAGTCAGCATGGATGGGACTCCCTGCCCAACCCCTCCGGGCTTAGTTCTAGAGGGGAGACTAACACCATGAGCAGGAAACAGCAAGAGGGGCCCAAGCCAGGGCCACAATGTCAGGGCAGTGGTTTCTGTATTTCCAAATGAACGTGAAAAGAGGTGCTCAGCCTGAAGTCCTCGGTGGCCTGGGGGATGAGAGTGAGTTCCTGGCAGCCCAGCCGGGGGAGCAGTGCCGAGGGCTGGCAGCCTTGGGGTGGATGCTCAGGTCGATGGCTCCCCTGACATGCACAGCCCAGGATCAGAAAGCAGCCACAGGAGGCTGCTGAGGGGCCAAAGGGCATACCGTGGGGAAGGGACAGGGGAGCCGAGGGGTGTGGCTGGGTAGCAGGGTTGCAGCCCCGCAGCTCCTCCTCGTCTGAAGGTGATAACCTGCATTTTCTGGTCCTTTTCAGGGTATCACTGGTCCTTCTGGCCCGATTGGGCCTCCTGGGCCCCCTGGCCTGCCGGTGTGTATCTGGGAGGGGCTTGGTCATTCCTG
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Task1_train_13463
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The following genetic variant occurs in COL5A1, LOC101448202 (collagen type V alpha 1 chain| uncharacterized LOC101448202) on Chromosome 9. Classify its clinical effect — pathogenic or benign — and list any associated condition.
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Pathogenic; Ehlers-Danlos syndrome, classic type, 1
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AAGGCTGAGTAGTTATGTCCCCCGGAGCCCTGCGACCTCATGCCTGGTCTTTGAGTCGGCCAGACCTGAGCCGCCTACCTCTGAAGTGGACCGTGTCCGATGGTGACCGTGTCTGCTGCGGGGCCCGTGCAGAAGATGGGACGCCGTCACCCATGCAGTTGGCTTGGGGCCTGGCCCAGAGCACACGGGAGGCTATTCTGTCAGTGAGGTGATGGCGGCCCGGCCTGGCACTGTCTGCCTCCCTCCTGGAGGCGCCTGTTGTTAAGGAGACGGGAGGTTGTGCGGTTCCATCCCTGCTCGGGCAGTGGCGCTGTGACACCCGGTCTGTGGTCGGCGCAGTCAGCGGAGACGGGATCCCTGCTGGCCTGGGAGATGATCGGGATGGAGACTTGACCAGGGCAGCTTCCACAGGCAATGAAATGTGGAGAATTAGGGCAACCCCGGATATGGGGTCACCTGGGACTCCTCCAGAGGTGCCCAGGGTTTCCGAGCAGTGGTCCTGGGCCAGGGTGCCTGGAGCCTAGAGCTCCGGACCTCATTCTGCCCTCCGCCGTCCTGCAGGGAGAAGCCGGCTTGGAAGGCCCTCCTGGGAAGACTGGCCCCATCGGCCCCCAGGGGGCCCCTGGGAAGCCCGGACCGGATGGCCTTCGAGGGATCCCTGGCCCTGTGGTGAGTAGGCTGTGAGGGGCAGAGGGGTTGCCGAGTGGAGGGACGGGGGACCAGCAACTCATGCAGAGCGTCTCTGTGTTTCAGGGAGAACAAGGTCTCCCAGGATCCCCAGGCCCGGACGGTCCCCCCGGCCCCATGGTGAGTCACATTCCTCATGGTGAGCATAGCGGGTGGGATGACTTCGCCACCCAAAGCCCCAAGGATGAGGACTCTGATCCCCCTGCCTCCTCCCACAGGGTCCCCCAGGACTTCCCGGCCTCAAAGGAGATTCTGGTCCCAAAGGTGAAAAGGTAAGAGGGGCCTCCCTGCCCCAGCAACTGTGACTCGGGGCCTTCAAATTTGTGGCCGTGGGTCTCAAACTCAACAAGCTCTTGATCCGTCACCTAAATGTGTCAAGCACCTGCTGCAGGCTGGTGGTGGGGAACCTGAGGGGTGACAAAGGAAAATAGACACGCTGTGTTTGAGGCTTGGCCCCTGCCTCTGGGGGGTCCTGAGCAGCTCGGGAGATCCCGGAGGCCCCTGCGGTATTGACGGAGAACCTTCCAGCTAGGCACAGAGGCCCCGGCTGATGGGTGTCCAGGATCCCAGGTTGCTGCTCTCCCTGGGCTGAGCGGCCCCAGATCCTTTCCGCAGGAGGTGTGAGGACATTTCTGCAGTGGGAGCAAAGCCCTTTTATTTTTCTAACTGCTGGGAATTGTTTTCCACTTGCATTGATTTATTTACAAACATAAAAGGTACTCAGGAGTGAGATGGTTGTATATGAAGCAGAAGGCAGTGAGGGCCCTCTCATTTCCACTCTGACGTCCGCCACCACTGCCCCCAGCCCCAAGGCAAATGAGAGCTGGGGCTGCCTTGCGAGGCTTGCCCTGGGTTCCTAGAAGACAAACATAGACAGCGAGTGTCATGGATTCTTCTTTTTTTAGAAAAACAACCCATGATTGTAATATCTATAATACTCTGCATCTTTCTTTCCGTGTCAGTCCACAAACTTTGTTTTAGTTCCGTATAGGAGCAGGCGTTCGGATTTGCCATAGGAAATTGGAGAGCGTATACGAAGAGAAAGACAGAGATAAACATTACCACTCAGGAAAACCCCTTTATCACTTTGGTCTGTCTCAGTGTCTGTGGCTCCCTGTCTGTTTTTAGACGTGACTGTGGCCAGCGAAGGGCCACCTCGGACCTGCCGTTTCGTCACCTGGCCCCTCTGTTGAGCCTGTTCCCCTTCCAGGGGAGGCTGACCATGATGTAAAGCTTCCTGTGCCATGGCTGTGCTGCGTGCTAACTGGCCCACCGTGGCCGAGCATGAGGCGTGGCTCCCTCAAATGCCCCTTCCTGTCTTCATTTTCCCACAGGGTCATCCAGGCCTGATCGGGCTCATCGGTCCTCCGGGTGAACAGGGTGAGAAGGGCGACCGTGGTCTCCCTGGCCCCCAGGGCTCCTCCGGTCCTAAGGGAGAACAGGTGCGTGAGATGGCACTTCTTGCATGTGGGCTGTCGAGAGGCATTTTAGATCCCTGGGGCAGGCACCCAGGGGACAGGAGGCCCATCAGAGCCCGGAAGGACGTCCACACGTCGGTTGAGTCCGGTCATCCTGCTTGGCAGATGGGAACACTGACGGGCTGGGCTTGCCCAGGTGCACAGTGAGCTGGGCAGAGCCGTCTCCCAGCTCCATGCCCTGACTGGCAGGCGGGGCTTCCTCCTCATGACCGTGGTGTCCCCCAGAGCTGGAGGGACTCGGAAGTCAGGTCATTCTGCCTGGTTCCCAGCCCTGTGGGAGAGCCTGTCACCCACCGCTTGCCCAGGAGGTCACTGGTGACAACCAGCCGTGTTTGCCAGAGCTGCGGGCAGAGTGGCTGTTCTGGCTCCTGCTTCCACCTTGTCCCCAGCTGCCCCCAAACTGTAGCTCATTGGAGTTTGCAGCCTCTGCAAACCATAGCCAAGGAAACGCCATGCAGAGAGCTTCACTCTGTCCCACAACTCTGAGTGACTTGGAAGTGGCCTGGGGAGGGTGACGTGTGCCATGGAGGCAGGAGAGGGGATGAGGTGACCTGTAGTGCCTCTGTCCTTCCCCCATGAGGGCCACGGGTCCTTATTCCTGTGTGGGAATCTTTCCGTCCCGAGCAAGGTGTGACGGACACACACACGCACAGTATGCTGTGCCCACCCACGCCCATGCCTCATAGGATGCGGGGGACAGGGCAGGAGCAGGCAGAGCCCCTGGAGGCTGGGAGTAAGGTGGCACCCTCACTATGGGCCCGGGGAAGGTTGCAGGACATGGCTGAAGGGTGGAGCTCATTGCAAACCCTACCTCACTGGCCAGTGTCCTCCATGCCATTGACTGTTTTCCTCTGCCGGTATCCCCAGGCCACAGCAGGGTCGTCGGAGGAGTGCCGCCCAGGGTGTGGTGGCCCGGCAACCACGAGAATTAGAGAGGCATCCAGGGTCCCCACGGCCAGCGGGGAAAGCACCCCTGTGTCCACCCTGTTTGCTCACCTGCCCTCACCCCAAACCATGGTCTTGGCGGCATTGCTGATGAAGGTGTCGGGTTGGTGTGCAGGCTTGGGTAGTTGTGGGGTCCTTACAATGAGCCACAGCCCAAGTTCCTGCAGGGACAAGGTGAAGGGAGGGAAGCGCTCCCTCCCCAGTGAAATACGGCCATCAGCCCTCCGCTACCCTCGCCCCCAGCTTCTGCCCGGAGAGAGCTCTGAGTGGAATCCAGGGCTGTAGGGAGAGAGGCTGCAGGTGGCTCCAGCTGCCCGTGGCAAAGCTGGTCAAAGCTGTTCTGTGCCAGCAGCTCAGTCTGGGAGGGAGTCAGTGGGGAGAAGGGGTCTGAGCGGAGGTTCCACGCTCCAAGGATGCAGAAAGCACATTTACAGGCAGGACAGGACAGTCAGCATGGATGGGACTCCCTGCCCAACCCCTCCGGGCTTAGTTCTAGAGGGGAGACTAACACCATGAGCAGGAAACAGCAAGAGGGGCCCAAGCCAGGGCCACAATGTCAGGGCAGTGGTTTCTGTATTTCCAAATGAACGTGAAAAGAGGTGCTCAGCCTGAAGTCCTCGGTGGCCTGGGGGATGAGAGTGAGTTCCTGGCAGCCCAGCCGGGGGAGCAGTGCCGAGGGCTGGCAGCCTTGGGGTGGATGCTCAGGTCGATGGCTCCCCTGACATGCACAGCCCAGGATCAGAAAGCAGCCACAGGAGGCTGCTGAGGGGCCAAAGGGCATACCGTGGGGAAGGGACAGGGGAGCCGAGGGGTGTGGCTGGGTAGCAGGGTTGCAGCCCCGCAGCTCCTCCTCGTCTGAAGGTGATAACCTGCATTTTCTGGTCCTTTTCAGGGTATCACTGGTCCTTCTGGCCCGATTGGGCCTCCTGGGCCCCCTGGCCTGCCGGTGTGTATCTGGGAGGGGCTTGGTCATTCCTGGGAGGGCA
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AAGGCTGAGTAGTTATGTCCCCCGGAGCCCTGCGACCTCATGCCTGGTCTTTGAGTCGGCCAGACCTGAGCCGCCTACCTCTGAAGTGGACCGTGTCCGATGGTGACCGTGTCTGCTGCGGGGCCCGTGCAGAAGATGGGACGCCGTCACCCATGCAGTTGGCTTGGGGCCTGGCCCAGAGCACACGGGAGGCTATTCTGTCAGTGAGGTGATGGCGGCCCGGCCTGGCACTGTCTGCCTCCCTCCTGGAGGCGCCTGTTGTTAAGGAGACGGGAGGTTGTGCGGTTCCATCCCTGCTCGGGCAGTGGCGCTGTGACACCCGGTCTGTGGTCGGCGCAGTCAGCGGAGACGGGATCCCTGCTGGCCTGGGAGATGATCGGGATGGAGACTTGACCAGGGCAGCTTCCACAGGCAATGAAATGTGGAGAATTAGGGCAACCCCGGATATGGGGTCACCTGGGACTCCTCCAGAGGTGCCCAGGGTTTCCGAGCAGTGGTCCTGGGCCAGGGTGCCTGGAGCCTAGAGCTCCGGACCTCATTCTGCCCTCCGCCGTCCTGCAGGGAGAAGCCGGCTTGGAAGGCCCTCCTGGGAAGACTGGCCCCATCGGCCCCCAGGGGGCCCCTGGGAAGCCCGGACCGGATGGCCTTCGAGGGATCCCTGGCCCTGTGGTGAGTAGGCTGTGAGGGGCAGAGGGGTTGCCGAGTGGAGGGACGGGGGACCAGCAACTCATGCAGAGCGTCTCTGTGTTTCAGGGAGAACAAGGTCTCCCAGGATCCCCAGGCCCGGACGGTCCCCCCGGCCCCATGGTGAGTCACATTCCTCATGGTGAGCATAGCGGGTGGGATGACTTCGCCACCCAAAGCCCCAAGGATGAGGACTCTGATCCCCCTGCCTCCTCCCACAGGGTCCCCCAGGACTTCCCGGCCTCAAAGGAGATTCTGGTCCCAAAGGTGAAAAGGTAAGAGGGGCCTCCCTGCCCCAGCAACTGTGACTCGGGGCCTTCAAATTTGTGGCCGTGGGTCTCAAACTCAACAAGCTCTTGATCCGTCACCTAAATGTGTCAAGCACCTGCTGCAGGCTGGTGGTGGGGAACCTGAGGGGTGACAAAGGAAAATAGACACGCTGTGTTTGAGGCTTGGCCCCTGCCTCTGGGGGGTCCTGAGCAGCTCGGGAGATCCCGGAGGCCCCTGCGGTATTGACGGAGAACCTTCCAGCTAGGCACAGAGGCCCCGGCTGATGGGTGTCCAGGATCCCAGGTTGCTGCTCTCCCTGGGCTGAGCGGCCCCAGATCCTTTCCGCAGGAGGTGTGAGGACATTTCTGCAGTGGGAGCAAAGCCCTTTTATTTTTCTAACTGCTGGGAATTGTTTTCCACTTGCATTGATTTATTTACAAACATAAAAGGTACTCAGGAGTGAGATGGTTGTATATGAAGCAGAAGGCAGTGAGGGCCCTCTCATTTCCACTCTGACGTCCGCCACCACTGCCCCCAGCCCCAAGGCAAATGAGAGCTGGGGCTGCCTTGCGAGGCTTGCCCTGGGTTCCTAGAAGACAAACATAGACAGCGAGTGTCATGGATTCTTCTTTTTTTAGAAAAACAACCCATGATTGTAATATCTATAATACTCTGCATCTTTCTTTCCGTGTCAGTCCACAAACTTTGTTTTAGTTCCGTATAGGAGCAGGCGTTCGGATTTGCCATAGGAAATTGGAGAGCGTATACGAAGAGAAAGACAGAGATAAACATTACCACTCAGGAAAACCCCTTTATCACTTTGGTCTGTCTCAGTGTCTGTGGCTCCCTGTCTGTTTTTAGACGTGACTGTGGCCAGCGAAGGGCCACCTCGGACCTGCCGTTTCGTCACCTGGCCCCTCTGTTGAGCCTGTTCCCCTTCCAGGGGAGGCTGACCATGATGTAAAGCTTCCTGTGCCATGGCTGTGCTGCGTGCTAACTGGCCCACCGTGGCCGAGCATGAGGCGTGGCTCCCTCAAATGCCCCTTCCTGTCTTCATTTTCCCACAGGGTCATCCAGGCCTGATCGGGCTCATCAGTCCTCCGGGTGAACAGGGTGAGAAGGGCGACCGTGGTCTCCCTGGCCCCCAGGGCTCCTCCGGTCCTAAGGGAGAACAGGTGCGTGAGATGGCACTTCTTGCATGTGGGCTGTCGAGAGGCATTTTAGATCCCTGGGGCAGGCACCCAGGGGACAGGAGGCCCATCAGAGCCCGGAAGGACGTCCACACGTCGGTTGAGTCCGGTCATCCTGCTTGGCAGATGGGAACACTGACGGGCTGGGCTTGCCCAGGTGCACAGTGAGCTGGGCAGAGCCGTCTCCCAGCTCCATGCCCTGACTGGCAGGCGGGGCTTCCTCCTCATGACCGTGGTGTCCCCCAGAGCTGGAGGGACTCGGAAGTCAGGTCATTCTGCCTGGTTCCCAGCCCTGTGGGAGAGCCTGTCACCCACCGCTTGCCCAGGAGGTCACTGGTGACAACCAGCCGTGTTTGCCAGAGCTGCGGGCAGAGTGGCTGTTCTGGCTCCTGCTTCCACCTTGTCCCCAGCTGCCCCCAAACTGTAGCTCATTGGAGTTTGCAGCCTCTGCAAACCATAGCCAAGGAAACGCCATGCAGAGAGCTTCACTCTGTCCCACAACTCTGAGTGACTTGGAAGTGGCCTGGGGAGGGTGACGTGTGCCATGGAGGCAGGAGAGGGGATGAGGTGACCTGTAGTGCCTCTGTCCTTCCCCCATGAGGGCCACGGGTCCTTATTCCTGTGTGGGAATCTTTCCGTCCCGAGCAAGGTGTGACGGACACACACACGCACAGTATGCTGTGCCCACCCACGCCCATGCCTCATAGGATGCGGGGGACAGGGCAGGAGCAGGCAGAGCCCCTGGAGGCTGGGAGTAAGGTGGCACCCTCACTATGGGCCCGGGGAAGGTTGCAGGACATGGCTGAAGGGTGGAGCTCATTGCAAACCCTACCTCACTGGCCAGTGTCCTCCATGCCATTGACTGTTTTCCTCTGCCGGTATCCCCAGGCCACAGCAGGGTCGTCGGAGGAGTGCCGCCCAGGGTGTGGTGGCCCGGCAACCACGAGAATTAGAGAGGCATCCAGGGTCCCCACGGCCAGCGGGGAAAGCACCCCTGTGTCCACCCTGTTTGCTCACCTGCCCTCACCCCAAACCATGGTCTTGGCGGCATTGCTGATGAAGGTGTCGGGTTGGTGTGCAGGCTTGGGTAGTTGTGGGGTCCTTACAATGAGCCACAGCCCAAGTTCCTGCAGGGACAAGGTGAAGGGAGGGAAGCGCTCCCTCCCCAGTGAAATACGGCCATCAGCCCTCCGCTACCCTCGCCCCCAGCTTCTGCCCGGAGAGAGCTCTGAGTGGAATCCAGGGCTGTAGGGAGAGAGGCTGCAGGTGGCTCCAGCTGCCCGTGGCAAAGCTGGTCAAAGCTGTTCTGTGCCAGCAGCTCAGTCTGGGAGGGAGTCAGTGGGGAGAAGGGGTCTGAGCGGAGGTTCCACGCTCCAAGGATGCAGAAAGCACATTTACAGGCAGGACAGGACAGTCAGCATGGATGGGACTCCCTGCCCAACCCCTCCGGGCTTAGTTCTAGAGGGGAGACTAACACCATGAGCAGGAAACAGCAAGAGGGGCCCAAGCCAGGGCCACAATGTCAGGGCAGTGGTTTCTGTATTTCCAAATGAACGTGAAAAGAGGTGCTCAGCCTGAAGTCCTCGGTGGCCTGGGGGATGAGAGTGAGTTCCTGGCAGCCCAGCCGGGGGAGCAGTGCCGAGGGCTGGCAGCCTTGGGGTGGATGCTCAGGTCGATGGCTCCCCTGACATGCACAGCCCAGGATCAGAAAGCAGCCACAGGAGGCTGCTGAGGGGCCAAAGGGCATACCGTGGGGAAGGGACAGGGGAGCCGAGGGGTGTGGCTGGGTAGCAGGGTTGCAGCCCCGCAGCTCCTCCTCGTCTGAAGGTGATAACCTGCATTTTCTGGTCCTTTTCAGGGTATCACTGGTCCTTCTGGCCCGATTGGGCCTCCTGGGCCCCCTGGCCTGCCGGTGTGTATCTGGGAGGGGCTTGGTCATTCCTGGGAGGGCA
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Task1_train_13464
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This is a variant in COL5A1, LOC101448202 (collagen type V alpha 1 chain| uncharacterized LOC101448202), located on Chromosome 9. Is this mutation a likely cause of disease or not?
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Pathogenic; not provided
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AAGGCTGAGTAGTTATGTCCCCCGGAGCCCTGCGACCTCATGCCTGGTCTTTGAGTCGGCCAGACCTGAGCCGCCTACCTCTGAAGTGGACCGTGTCCGATGGTGACCGTGTCTGCTGCGGGGCCCGTGCAGAAGATGGGACGCCGTCACCCATGCAGTTGGCTTGGGGCCTGGCCCAGAGCACACGGGAGGCTATTCTGTCAGTGAGGTGATGGCGGCCCGGCCTGGCACTGTCTGCCTCCCTCCTGGAGGCGCCTGTTGTTAAGGAGACGGGAGGTTGTGCGGTTCCATCCCTGCTCGGGCAGTGGCGCTGTGACACCCGGTCTGTGGTCGGCGCAGTCAGCGGAGACGGGATCCCTGCTGGCCTGGGAGATGATCGGGATGGAGACTTGACCAGGGCAGCTTCCACAGGCAATGAAATGTGGAGAATTAGGGCAACCCCGGATATGGGGTCACCTGGGACTCCTCCAGAGGTGCCCAGGGTTTCCGAGCAGTGGTCCTGGGCCAGGGTGCCTGGAGCCTAGAGCTCCGGACCTCATTCTGCCCTCCGCCGTCCTGCAGGGAGAAGCCGGCTTGGAAGGCCCTCCTGGGAAGACTGGCCCCATCGGCCCCCAGGGGGCCCCTGGGAAGCCCGGACCGGATGGCCTTCGAGGGATCCCTGGCCCTGTGGTGAGTAGGCTGTGAGGGGCAGAGGGGTTGCCGAGTGGAGGGACGGGGGACCAGCAACTCATGCAGAGCGTCTCTGTGTTTCAGGGAGAACAAGGTCTCCCAGGATCCCCAGGCCCGGACGGTCCCCCCGGCCCCATGGTGAGTCACATTCCTCATGGTGAGCATAGCGGGTGGGATGACTTCGCCACCCAAAGCCCCAAGGATGAGGACTCTGATCCCCCTGCCTCCTCCCACAGGGTCCCCCAGGACTTCCCGGCCTCAAAGGAGATTCTGGTCCCAAAGGTGAAAAGGTAAGAGGGGCCTCCCTGCCCCAGCAACTGTGACTCGGGGCCTTCAAATTTGTGGCCGTGGGTCTCAAACTCAACAAGCTCTTGATCCGTCACCTAAATGTGTCAAGCACCTGCTGCAGGCTGGTGGTGGGGAACCTGAGGGGTGACAAAGGAAAATAGACACGCTGTGTTTGAGGCTTGGCCCCTGCCTCTGGGGGGTCCTGAGCAGCTCGGGAGATCCCGGAGGCCCCTGCGGTATTGACGGAGAACCTTCCAGCTAGGCACAGAGGCCCCGGCTGATGGGTGTCCAGGATCCCAGGTTGCTGCTCTCCCTGGGCTGAGCGGCCCCAGATCCTTTCCGCAGGAGGTGTGAGGACATTTCTGCAGTGGGAGCAAAGCCCTTTTATTTTTCTAACTGCTGGGAATTGTTTTCCACTTGCATTGATTTATTTACAAACATAAAAGGTACTCAGGAGTGAGATGGTTGTATATGAAGCAGAAGGCAGTGAGGGCCCTCTCATTTCCACTCTGACGTCCGCCACCACTGCCCCCAGCCCCAAGGCAAATGAGAGCTGGGGCTGCCTTGCGAGGCTTGCCCTGGGTTCCTAGAAGACAAACATAGACAGCGAGTGTCATGGATTCTTCTTTTTTTAGAAAAACAACCCATGATTGTAATATCTATAATACTCTGCATCTTTCTTTCCGTGTCAGTCCACAAACTTTGTTTTAGTTCCGTATAGGAGCAGGCGTTCGGATTTGCCATAGGAAATTGGAGAGCGTATACGAAGAGAAAGACAGAGATAAACATTACCACTCAGGAAAACCCCTTTATCACTTTGGTCTGTCTCAGTGTCTGTGGCTCCCTGTCTGTTTTTAGACGTGACTGTGGCCAGCGAAGGGCCACCTCGGACCTGCCGTTTCGTCACCTGGCCCCTCTGTTGAGCCTGTTCCCCTTCCAGGGGAGGCTGACCATGATGTAAAGCTTCCTGTGCCATGGCTGTGCTGCGTGCTAACTGGCCCACCGTGGCCGAGCATGAGGCGTGGCTCCCTCAAATGCCCCTTCCTGTCTTCATTTTCCCACAGGGTCATCCAGGCCTGATCGGGCTCATCGGTCCTCCGGGTGAACAGGGTGAGAAGGGCGACCGTGGTCTCCCTGGCCCCCAGGGCTCCTCCGGTCCTAAGGGAGAACAGGTGCGTGAGATGGCACTTCTTGCATGTGGGCTGTCGAGAGGCATTTTAGATCCCTGGGGCAGGCACCCAGGGGACAGGAGGCCCATCAGAGCCCGGAAGGACGTCCACACGTCGGTTGAGTCCGGTCATCCTGCTTGGCAGATGGGAACACTGACGGGCTGGGCTTGCCCAGGTGCACAGTGAGCTGGGCAGAGCCGTCTCCCAGCTCCATGCCCTGACTGGCAGGCGGGGCTTCCTCCTCATGACCGTGGTGTCCCCCAGAGCTGGAGGGACTCGGAAGTCAGGTCATTCTGCCTGGTTCCCAGCCCTGTGGGAGAGCCTGTCACCCACCGCTTGCCCAGGAGGTCACTGGTGACAACCAGCCGTGTTTGCCAGAGCTGCGGGCAGAGTGGCTGTTCTGGCTCCTGCTTCCACCTTGTCCCCAGCTGCCCCCAAACTGTAGCTCATTGGAGTTTGCAGCCTCTGCAAACCATAGCCAAGGAAACGCCATGCAGAGAGCTTCACTCTGTCCCACAACTCTGAGTGACTTGGAAGTGGCCTGGGGAGGGTGACGTGTGCCATGGAGGCAGGAGAGGGGATGAGGTGACCTGTAGTGCCTCTGTCCTTCCCCCATGAGGGCCACGGGTCCTTATTCCTGTGTGGGAATCTTTCCGTCCCGAGCAAGGTGTGACGGACACACACACGCACAGTATGCTGTGCCCACCCACGCCCATGCCTCATAGGATGCGGGGGACAGGGCAGGAGCAGGCAGAGCCCCTGGAGGCTGGGAGTAAGGTGGCACCCTCACTATGGGCCCGGGGAAGGTTGCAGGACATGGCTGAAGGGTGGAGCTCATTGCAAACCCTACCTCACTGGCCAGTGTCCTCCATGCCATTGACTGTTTTCCTCTGCCGGTATCCCCAGGCCACAGCAGGGTCGTCGGAGGAGTGCCGCCCAGGGTGTGGTGGCCCGGCAACCACGAGAATTAGAGAGGCATCCAGGGTCCCCACGGCCAGCGGGGAAAGCACCCCTGTGTCCACCCTGTTTGCTCACCTGCCCTCACCCCAAACCATGGTCTTGGCGGCATTGCTGATGAAGGTGTCGGGTTGGTGTGCAGGCTTGGGTAGTTGTGGGGTCCTTACAATGAGCCACAGCCCAAGTTCCTGCAGGGACAAGGTGAAGGGAGGGAAGCGCTCCCTCCCCAGTGAAATACGGCCATCAGCCCTCCGCTACCCTCGCCCCCAGCTTCTGCCCGGAGAGAGCTCTGAGTGGAATCCAGGGCTGTAGGGAGAGAGGCTGCAGGTGGCTCCAGCTGCCCGTGGCAAAGCTGGTCAAAGCTGTTCTGTGCCAGCAGCTCAGTCTGGGAGGGAGTCAGTGGGGAGAAGGGGTCTGAGCGGAGGTTCCACGCTCCAAGGATGCAGAAAGCACATTTACAGGCAGGACAGGACAGTCAGCATGGATGGGACTCCCTGCCCAACCCCTCCGGGCTTAGTTCTAGAGGGGAGACTAACACCATGAGCAGGAAACAGCAAGAGGGGCCCAAGCCAGGGCCACAATGTCAGGGCAGTGGTTTCTGTATTTCCAAATGAACGTGAAAAGAGGTGCTCAGCCTGAAGTCCTCGGTGGCCTGGGGGATGAGAGTGAGTTCCTGGCAGCCCAGCCGGGGGAGCAGTGCCGAGGGCTGGCAGCCTTGGGGTGGATGCTCAGGTCGATGGCTCCCCTGACATGCACAGCCCAGGATCAGAAAGCAGCCACAGGAGGCTGCTGAGGGGCCAAAGGGCATACCGTGGGGAAGGGACAGGGGAGCCGAGGGGTGTGGCTGGGTAGCAGGGTTGCAGCCCCGCAGCTCCTCCTCGTCTGAAGGTGATAACCTGCATTTTCTGGTCCTTTTCAGGGTATCACTGGTCCTTCTGGCCCGATTGGGCCTCCTGGGCCCCCTGGCCTGCCGGTGTGTATCTGGGAGGGGCTTGGTCATTCCTGGGAGGGCA
|
AAGGCTGAGTAGTTATGTCCCCCGGAGCCCTGCGACCTCATGCCTGGTCTTTGAGTCGGCCAGACCTGAGCCGCCTACCTCTGAAGTGGACCGTGTCCGATGGTGACCGTGTCTGCTGCGGGGCCCGTGCAGAAGATGGGACGCCGTCACCCATGCAGTTGGCTTGGGGCCTGGCCCAGAGCACACGGGAGGCTATTCTGTCAGTGAGGTGATGGCGGCCCGGCCTGGCACTGTCTGCCTCCCTCCTGGAGGCGCCTGTTGTTAAGGAGACGGGAGGTTGTGCGGTTCCATCCCTGCTCGGGCAGTGGCGCTGTGACACCCGGTCTGTGGTCGGCGCAGTCAGCGGAGACGGGATCCCTGCTGGCCTGGGAGATGATCGGGATGGAGACTTGACCAGGGCAGCTTCCACAGGCAATGAAATGTGGAGAATTAGGGCAACCCCGGATATGGGGTCACCTGGGACTCCTCCAGAGGTGCCCAGGGTTTCCGAGCAGTGGTCCTGGGCCAGGGTGCCTGGAGCCTAGAGCTCCGGACCTCATTCTGCCCTCCGCCGTCCTGCAGGGAGAAGCCGGCTTGGAAGGCCCTCCTGGGAAGACTGGCCCCATCGGCCCCCAGGGGGCCCCTGGGAAGCCCGGACCGGATGGCCTTCGAGGGATCCCTGGCCCTGTGGTGAGTAGGCTGTGAGGGGCAGAGGGGTTGCCGAGTGGAGGGACGGGGGACCAGCAACTCATGCAGAGCGTCTCTGTGTTTCAGGGAGAACAAGGTCTCCCAGGATCCCCAGGCCCGGACGGTCCCCCCGGCCCCATGGTGAGTCACATTCCTCATGGTGAGCATAGCGGGTGGGATGACTTCGCCACCCAAAGCCCCAAGGATGAGGACTCTGATCCCCCTGCCTCCTCCCACAGGGTCCCCCAGGACTTCCCGGCCTCAAAGGAGATTCTGGTCCCAAAGGTGAAAAGGTAAGAGGGGCCTCCCTGCCCCAGCAACTGTGACTCGGGGCCTTCAAATTTGTGGCCGTGGGTCTCAAACTCAACAAGCTCTTGATCCGTCACCTAAATGTGTCAAGCACCTGCTGCAGGCTGGTGGTGGGGAACCTGAGGGGTGACAAAGGAAAATAGACACGCTGTGTTTGAGGCTTGGCCCCTGCCTCTGGGGGGTCCTGAGCAGCTCGGGAGATCCCGGAGGCCCCTGCGGTATTGACGGAGAACCTTCCAGCTAGGCACAGAGGCCCCGGCTGATGGGTGTCCAGGATCCCAGGTTGCTGCTCTCCCTGGGCTGAGCGGCCCCAGATCCTTTCCGCAGGAGGTGTGAGGACATTTCTGCAGTGGGAGCAAAGCCCTTTTATTTTTCTAACTGCTGGGAATTGTTTTCCACTTGCATTGATTTATTTACAAACATAAAAGGTACTCAGGAGTGAGATGGTTGTATATGAAGCAGAAGGCAGTGAGGGCCCTCTCATTTCCACTCTGACGTCCGCCACCACTGCCCCCAGCCCCAAGGCAAATGAGAGCTGGGGCTGCCTTGCGAGGCTTGCCCTGGGTTCCTAGAAGACAAACATAGACAGCGAGTGTCATGGATTCTTCTTTTTTTAGAAAAACAACCCATGATTGTAATATCTATAATACTCTGCATCTTTCTTTCCGTGTCAGTCCACAAACTTTGTTTTAGTTCCGTATAGGAGCAGGCGTTCGGATTTGCCATAGGAAATTGGAGAGCGTATACGAAGAGAAAGACAGAGATAAACATTACCACTCAGGAAAACCCCTTTATCACTTTGGTCTGTCTCAGTGTCTGTGGCTCCCTGTCTGTTTTTAGACGTGACTGTGGCCAGCGAAGGGCCACCTCGGACCTGCCGTTTCGTCACCTGGCCCCTCTGTTGAGCCTGTTCCCCTTCCAGGGGAGGCTGACCATGATGTAAAGCTTCCTGTGCCATGGCTGTGCTGCGTGCTAACTGGCCCACCGTGGCCGAGCATGAGGCGTGGCTCCCTCAAATGCCCCTTCCTGTCTTCATTTTCCCACAGGGTCATCCAGGCCTGATCGGGCTCATCTGTCCTCCGGGTGAACAGGGTGAGAAGGGCGACCGTGGTCTCCCTGGCCCCCAGGGCTCCTCCGGTCCTAAGGGAGAACAGGTGCGTGAGATGGCACTTCTTGCATGTGGGCTGTCGAGAGGCATTTTAGATCCCTGGGGCAGGCACCCAGGGGACAGGAGGCCCATCAGAGCCCGGAAGGACGTCCACACGTCGGTTGAGTCCGGTCATCCTGCTTGGCAGATGGGAACACTGACGGGCTGGGCTTGCCCAGGTGCACAGTGAGCTGGGCAGAGCCGTCTCCCAGCTCCATGCCCTGACTGGCAGGCGGGGCTTCCTCCTCATGACCGTGGTGTCCCCCAGAGCTGGAGGGACTCGGAAGTCAGGTCATTCTGCCTGGTTCCCAGCCCTGTGGGAGAGCCTGTCACCCACCGCTTGCCCAGGAGGTCACTGGTGACAACCAGCCGTGTTTGCCAGAGCTGCGGGCAGAGTGGCTGTTCTGGCTCCTGCTTCCACCTTGTCCCCAGCTGCCCCCAAACTGTAGCTCATTGGAGTTTGCAGCCTCTGCAAACCATAGCCAAGGAAACGCCATGCAGAGAGCTTCACTCTGTCCCACAACTCTGAGTGACTTGGAAGTGGCCTGGGGAGGGTGACGTGTGCCATGGAGGCAGGAGAGGGGATGAGGTGACCTGTAGTGCCTCTGTCCTTCCCCCATGAGGGCCACGGGTCCTTATTCCTGTGTGGGAATCTTTCCGTCCCGAGCAAGGTGTGACGGACACACACACGCACAGTATGCTGTGCCCACCCACGCCCATGCCTCATAGGATGCGGGGGACAGGGCAGGAGCAGGCAGAGCCCCTGGAGGCTGGGAGTAAGGTGGCACCCTCACTATGGGCCCGGGGAAGGTTGCAGGACATGGCTGAAGGGTGGAGCTCATTGCAAACCCTACCTCACTGGCCAGTGTCCTCCATGCCATTGACTGTTTTCCTCTGCCGGTATCCCCAGGCCACAGCAGGGTCGTCGGAGGAGTGCCGCCCAGGGTGTGGTGGCCCGGCAACCACGAGAATTAGAGAGGCATCCAGGGTCCCCACGGCCAGCGGGGAAAGCACCCCTGTGTCCACCCTGTTTGCTCACCTGCCCTCACCCCAAACCATGGTCTTGGCGGCATTGCTGATGAAGGTGTCGGGTTGGTGTGCAGGCTTGGGTAGTTGTGGGGTCCTTACAATGAGCCACAGCCCAAGTTCCTGCAGGGACAAGGTGAAGGGAGGGAAGCGCTCCCTCCCCAGTGAAATACGGCCATCAGCCCTCCGCTACCCTCGCCCCCAGCTTCTGCCCGGAGAGAGCTCTGAGTGGAATCCAGGGCTGTAGGGAGAGAGGCTGCAGGTGGCTCCAGCTGCCCGTGGCAAAGCTGGTCAAAGCTGTTCTGTGCCAGCAGCTCAGTCTGGGAGGGAGTCAGTGGGGAGAAGGGGTCTGAGCGGAGGTTCCACGCTCCAAGGATGCAGAAAGCACATTTACAGGCAGGACAGGACAGTCAGCATGGATGGGACTCCCTGCCCAACCCCTCCGGGCTTAGTTCTAGAGGGGAGACTAACACCATGAGCAGGAAACAGCAAGAGGGGCCCAAGCCAGGGCCACAATGTCAGGGCAGTGGTTTCTGTATTTCCAAATGAACGTGAAAAGAGGTGCTCAGCCTGAAGTCCTCGGTGGCCTGGGGGATGAGAGTGAGTTCCTGGCAGCCCAGCCGGGGGAGCAGTGCCGAGGGCTGGCAGCCTTGGGGTGGATGCTCAGGTCGATGGCTCCCCTGACATGCACAGCCCAGGATCAGAAAGCAGCCACAGGAGGCTGCTGAGGGGCCAAAGGGCATACCGTGGGGAAGGGACAGGGGAGCCGAGGGGTGTGGCTGGGTAGCAGGGTTGCAGCCCCGCAGCTCCTCCTCGTCTGAAGGTGATAACCTGCATTTTCTGGTCCTTTTCAGGGTATCACTGGTCCTTCTGGCCCGATTGGGCCTCCTGGGCCCCCTGGCCTGCCGGTGTGTATCTGGGAGGGGCTTGGTCATTCCTGGGAGGGCA
|
Task1_train_13465
|
A variant affecting Chromosome 9, within the gene COL5A1, LOC101448202 (collagen type V alpha 1 chain| uncharacterized LOC101448202), has been observed. Determine if it's benign or associated with disease.
|
Pathogenic; Ehlers-Danlos syndrome, classic type, 1
|
TAGGCTGGCCGGGGGCAGGTAGGACCACCCTGTGTCTCCACGAGGGGTGAGCACCAGCCAGGCCCCGACCCTCCTCCCACTCTAGCCGGGCAAATACAAGCATAGACTCTTGAGGGGGATGCGGGTGGGAGAGGGGCGAGGGGCGAGACCAGGCTGGGCAGGACATGGAGCACGGTGGGGCTGGAGCTGAGACCCGGCTTGCTGACGTTCTGCCCTCCTCTCTCTGCAGGGTCCGCCTGGTCCAAAAGGTGCTAAGGGCTCCTCGGTAAGTAACATGCTGCCCAGCCAGGCCAATGCCTGGAAGGTAGGGGAGGGCGACGGGTCCCCTGGCACGGGAACAAACTACCCAGACAACCGTCCTAGCTCAGGCCCTGCTGCTCACGATCCTCCCATCTTTCTACACTGACCCATGGCGGACTGAGGCAGGTGGGCTGCTCGCCGCCTGCCCTAGGAAGGGCTCCATCCCTCTCTGTTCTCATCTCAAGGATCCAGGAGGGTACAGGGGTCTCTGCCATTCTCTTCTCTGCTGTGGCTGATAGGGCCACCTCCCCCACATAGGTCTCCAGGGACCATTCTAGAGCTGAAGGTGGATTCAAAGTCCCCTCATACCTCTGTGACCAAGGGTTGATTCTTTTCTTTCTCCCCAGGGTCCAACTGGCCCGAAGGGTGAGGCAGGCCACCCAGGACCCCCAGGCCCCCCGGTAAGTAGCCCTTGAAGCCCAGAAAGCGGGACGGGGGCTCTGGCTAGCTCCGAGGGAATTGAGAAAGCAACTGTGTGTGTGTGACCCCTCCTGAGACTCATGAAGCCCATGTGGCATGCCCGGGCCTTGTCCCTCGCACGCAGCCGGGGAAATGAGCCACACAGGTCTATCACAGGAAGCTTACAGGCCAATTGGCCCTGAGAAGAACAGCTGGCCAGGAGAGAGAGGATACACGTGTGTGCTGTGTGTGCATGCATGGTATATGAATGTGTGAACGTGTAGTATATGCGTGTATGTGACTGGGCACGTGTGTGTGCATGTCTGTATGTGTACGTGCATCCTGTATATGTGCATGCATGTGTAATGTGTGTGTACATGGTTTGTATGTGCATGTGTGTGTGCATGATGTGTGTATGGGTATGCATGCATATATGTGGGGCACATATGTGTGTGCATGTGTAGTGTGTGTATATTGTATACGTGCATGCATGGCCGTGTGTGTGTGCATATGTATATGTGTACATGCATGTCTGGGATATATGTGCATGTGTGTGTGTGTGTTGGGATGGGGGAGCACTAGACAAGGCCCTGGAGGTGAAAGGTGAAGCCCAGTTTGAACCAGGGCATGGCGAGTGCACTATTGGACACCCCCCTTTGGTTGTGGAGTCTCTCCAACTCCCATCGTCATCTTAGCTGTGGCCTTCTGGAAGTGAATGGCTCTTTGCATCAGGAGGCATTCATGTGGCCCCACTGTGTTCAGCCCCAGCTAGGGCTGCAGAGGCCAGACTGGGGAGACCTGGTCCCTTTCCTCAAGGCTTGGCCTTTTGTGTGGCTGAGGGCAGGATGGCAGATGCAAGCCCAAGGCTGCAAACTGTTAAGTTTCAGCTCTAGAGAGAAAGGAGAGGTGCTCCATGCTGGCAAGCACCTGGCAGTGGGGATGGGTGTGGAATGTTCCAGAGACTGGAGGAAGGGATGGAAACAGTTCTAAGGCGGACAGATGTCCATGTAGCCCAGGTTGCCAGGCCCCAGGGAACCCCTGCAGATGTGGCCCCAGCTGTCCCTGCTCTGCTCATATCCTGGGACCCTTCCCATCCTCCATCACCCACCGCTGCTCCTGTTCTGTCCCCCAGGGCCCCCCGGGAGAGGTCATCCAGCCCCTGCCAATCCAGGCATCCAGGACGCGGCGGAACATCGACGCCAGCCAGCTGCTGGACGACGGGAATGGCGAGAACTACGTGGACTACGCGGACGGCATGGAAGAGATCTTCGGCTCTCTCAACTCTCTGAAGCTGGAGATTGAGCAGATGAAACGGCCCCTGGGCACGCAGCAGAACCCCGCCCGCACCTGCAAGGACCTGCAGCTCTGCCACCCCGACTTCCCAGATGGTGAGGGCCTGGGGGGGCAGGGGTGGCCCCCCAAAGCGGGCATGGACCTGCAGGACACATGGAGTGTGGCAAGGACAGTTCAGCCAGGCACAGCGGAAGGGACAGGACGGGCAGCCGCAGCCTCCCCATCTGTGGGGCCGGGGTGCGCAAGAGCCTCCCCTCTTGAACTTTATGGAGGCATCTCAGGGTGAGGCCGGGTGCAGAGGCCAAGGCTTTGAGGTCAGACTCTCCAGGTTCTCATCTGGTCTTAGGCATTTTCTGGCGGGGTGACCTGCTTGAACCTCGTGTTCCTGACCTGTCAAATGGGAACAGAAACATCTCCCAGGAAGAGGACAGAGTTGCGTGAGGCAGTGCCTGAGAGGCTGGCACAGTGCCAGTGGAAGTAAGGGTCAGTGTTAGGACCGGCAGCAGACGCTGTGCTTGGGCAAACGGCCTTCAAACTCCGCGATACTGTAAAAACACATCCTTCTCCTCACCATCATAGCCTCAGGCACCAATTGAAGGATAAATTCCCATTAGCTTTTCTTCCCCCTGGGAAGTTTGAATGTTCCCCCTGCAAGATTCGAGGGATGTTCATGGTTCCAGTAGACTCTGATCCTACATGCATGAATTTCCAGAGTTCCTTCCAGAACCCTCTCTGCATTTCTGTCCACCCAGAGAGTAGGCCGGACCCCAACCCTCCTGGCCACCAGAACACGTACCCAGTTGCTTCATGCACCAGCTGTGTTCTTGGTGAATGAGTTTGTCCACATCTCTTTATGGGCCCAGCAGGAGAAGCAAAATGCAATAAAGTAAACCCCAGAAAGGCCCGTGTTGGCGGCATTCCTGGGGCGTGCATTTTAACTGCTGGACTGAAATGTCACAGCGGCTTCCGGAACCATCCAGGGAGCAATCCTTCTGACTCTGCCTGCCTCCCTCCCCGTCTCTGAAATCCAGGTGAATACTGGGTCGATCCTAACCAAGGATGCTCCAGGGATTCCTTCAAGGTTTACTGCAACTTCACAGCCGGGGGGTCGACATGCGTCTTCCCTGACAAGAAGTCCGAAGGGGTGAGTAGCTGTGTCCCTCCATGGCCCCAGCGGGGCAGGCGTCACAGACAGGGCCATGCCGAGGGCTTCAAGCATTTCTTGTATATGCAGCTTTAAGACTGAAAGCCAGAAATGAATCCGTTTCATCAGTGAAACTGTTCTTTCAGAAGTAGACCTGAAATTGTTTTAAGAAATTTTTTAGTAATAAAATAGGTTTGTGCAGCCCGGGGTCAGGAAGGGTTGGAGGGCTTTCCACCTGGCATCCTGCCGTCCCAGGGCTGGGACTTCACTCACTGGTTGATAAAAGCTTTTCTCCGGTGACTCAGTGGTCCCACTGACCTGAGACCCCCATTAAAACCCTTTAAAGGAATTGGGAGCAGGTACAATAACGTGAGCCTGAGACATCTTCCGGAAGCTGCCCTTTGCCTCAATTCTTATTATCCAGCCTGTTTCTGTGGGTTGGCCCTGGTCCCTCCTGAGTGCTTTGTTTTGAAGTCTGTTTAGTGAAGAATTCGGGGTGGGGAGCTGGGCTCTGTTGAGATTTTGTGGCATGTCACTTAAATACCCACCTCTGTGGCCTTTCGGAGGCCTCAGCGCTGTAGCAGGAGTTTGTGTGCATGTGGATGGTGTGTGGGCACATGTGGATGAGTGTGTGGATGGGTGTGTGAATGGTGTGTGTGTGTGTGTAGATGCTGTGTGGTTTTGTAGTTGGGGTGTATGTGGATGGTGTGTGTGTAGATGGCATGTGGATGATGTGTGGGTGCATGTGGCTGGTGGATGGGTGTGTGTATGGGTGGTGGATGGGTGCGTGTGGCTGGTATGTGGGGGTGTGTGGGTGGTGTGTGGGTGTGTACATGGTGTTCGGGTGTGTGTGGCTGGTGTGTGGGTGTGTAGATGGTGTTTGGGTACTTGTGGCTGGTGCAGGTGTGTGGGTGTGTGGCTGGTGTGTGGATGTGTATATGGTGTGTGGGTGTGTGTGGC
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TAGGCTGGCCGGGGGCAGGTAGGACCACCCTGTGTCTCCACGAGGGGTGAGCACCAGCCAGGCCCCGACCCTCCTCCCACTCTAGCCGGGCAAATACAAGCATAGACTCTTGAGGGGGATGCGGGTGGGAGAGGGGCGAGGGGCGAGACCAGGCTGGGCAGGACATGGAGCACGGTGGGGCTGGAGCTGAGACCCGGCTTGCTGACGTTCTGCCCTCCTCTCTCTGCAGGGTCCGCCTGGTCCAAAAGGTGCTAAGGGCTCCTCGGTAAGTAACATGCTGCCCAGCCAGGCCAATGCCTGGAAGGTAGGGGAGGGCGACGGGTCCCCTGGCACGGGAACAAACTACCCAGACAACCGTCCTAGCTCAGGCCCTGCTGCTCACGATCCTCCCATCTTTCTACACTGACCCATGGCGGACTGAGGCAGGTGGGCTGCTCGCCGCCTGCCCTAGGAAGGGCTCCATCCCTCTCTGTTCTCATCTCAAGGATCCAGGAGGGTACAGGGGTCTCTGCCATTCTCTTCTCTGCTGTGGCTGATAGGGCCACCTCCCCCACATAGGTCTCCAGGGACCATTCTAGAGCTGAAGGTGGATTCAAAGTCCCCTCATACCTCTGTGACCAAGGGTTGATTCTTTTCTTTCTCCCCAGGGTCCAACTGGCCCGAAGGGTGAGGCAGGCCACCCAGGACCCCCAGGCCCCCCGGTAAGTAGCCCTTGAAGCCCAGAAAGCGGGACGGGGGCTCTGGCTAGCTCCGAGGGAATTGAGAAAGCAACTGTGTGTGTGTGACCCCTCCTGAGACTCATGAAGCCCATGTGGCATGCCCGGGCCTTGTCCCTCGCACGCAGCCGGGGAAATGAGCCACACAGGTCTATCACAGGAAGCTTACAGGCCAATTGGCCCTGAGAAGAACAGCTGGCCAGGAGAGAGAGGATACACGTGTGTGCTGTGTGTGCATGCATGGTATATGAATGTGTGAACGTGTAGTATATGCGTGTATGTGACTGGGCACGTGTGTGTGCATGTCTGTATGTGTACGTGCATCCTGTATATGTGCATGCATGTGTAATGTGTGTGTACATGGTTTGTATGTGCATGTGTGTGTGCATGATGTGTGTATGGGTATGCATGCATATATGTGGGGCACATATGTGTGTGCATGTGTAGTGTGTGTATATTGTATACGTGCATGCATGGCCGTGTGTGTGTGCATATGTATATGTGTACATGCATGTCTGGGATATATGTGCATGTGTGTGTGTGTGTTGGGATGGGGGAGCACTAGACAAGGCCCTGGAGGTGAAAGGTGAAGCCCAGTTTGAACCAGGGCATGGCGAGTGCACTATTGGACACCCCCCTTTGGTTGTGGAGTCTCTCCAACTCCCATCGTCATCTTAGCTGTGGCCTTCTGGAAGTGAATGGCTCTTTGCATCAGGAGGCATTCATGTGGCCCCACTGTGTTCAGCCCCAGCTAGGGCTGCAGAGGCCAGACTGGGGAGACCTGGTCCCTTTCCTCAAGGCTTGGCCTTTTGTGTGGCTGAGGGCAGGATGGCAGATGCAAGCCCAAGGCTGCAAACTGTTAAGTTTCAGCTCTAGAGAGAAAGGAGAGGTGCTCCATGCTGGCAAGCACCTGGCAGTGGGGATGGGTGTGGAATGTTCCAGAGACTGGAGGAAGGGATGGAAACAGTTCTAAGGCGGACAGATGTCCATGTAGCCCAGGTTGCCAGGCCCCAGGGAACCCCTGCAGATGTGGCCCCAGCTGTCCCTGCTCTGCTCATATCCTGGGACCCTTCCCATCCTCCATCACCCACCGCTGCTCCTGTTCTGTCCCCCAGGGCCCCCCGGGAGAGGTCATCCAGCCCCTGCCAATCCAGGCATCCAGGACGCGGCGGAACATCGACGCCAGCCAGCTGCTGGACGACGGGAATGGCGAGAACTACGTGGACTACGCGGACGGCATGGAAGAGATCTTCGGCTCTCTCAACTCTCTGAAGCTGGAGATTGAGCAGATGAAACGGCCCCTGGGCACGCAGCAGAACCCCGCCCGCACCTCCAAGGACCTGCAGCTCTGCCACCCCGACTTCCCAGATGGTGAGGGCCTGGGGGGGCAGGGGTGGCCCCCCAAAGCGGGCATGGACCTGCAGGACACATGGAGTGTGGCAAGGACAGTTCAGCCAGGCACAGCGGAAGGGACAGGACGGGCAGCCGCAGCCTCCCCATCTGTGGGGCCGGGGTGCGCAAGAGCCTCCCCTCTTGAACTTTATGGAGGCATCTCAGGGTGAGGCCGGGTGCAGAGGCCAAGGCTTTGAGGTCAGACTCTCCAGGTTCTCATCTGGTCTTAGGCATTTTCTGGCGGGGTGACCTGCTTGAACCTCGTGTTCCTGACCTGTCAAATGGGAACAGAAACATCTCCCAGGAAGAGGACAGAGTTGCGTGAGGCAGTGCCTGAGAGGCTGGCACAGTGCCAGTGGAAGTAAGGGTCAGTGTTAGGACCGGCAGCAGACGCTGTGCTTGGGCAAACGGCCTTCAAACTCCGCGATACTGTAAAAACACATCCTTCTCCTCACCATCATAGCCTCAGGCACCAATTGAAGGATAAATTCCCATTAGCTTTTCTTCCCCCTGGGAAGTTTGAATGTTCCCCCTGCAAGATTCGAGGGATGTTCATGGTTCCAGTAGACTCTGATCCTACATGCATGAATTTCCAGAGTTCCTTCCAGAACCCTCTCTGCATTTCTGTCCACCCAGAGAGTAGGCCGGACCCCAACCCTCCTGGCCACCAGAACACGTACCCAGTTGCTTCATGCACCAGCTGTGTTCTTGGTGAATGAGTTTGTCCACATCTCTTTATGGGCCCAGCAGGAGAAGCAAAATGCAATAAAGTAAACCCCAGAAAGGCCCGTGTTGGCGGCATTCCTGGGGCGTGCATTTTAACTGCTGGACTGAAATGTCACAGCGGCTTCCGGAACCATCCAGGGAGCAATCCTTCTGACTCTGCCTGCCTCCCTCCCCGTCTCTGAAATCCAGGTGAATACTGGGTCGATCCTAACCAAGGATGCTCCAGGGATTCCTTCAAGGTTTACTGCAACTTCACAGCCGGGGGGTCGACATGCGTCTTCCCTGACAAGAAGTCCGAAGGGGTGAGTAGCTGTGTCCCTCCATGGCCCCAGCGGGGCAGGCGTCACAGACAGGGCCATGCCGAGGGCTTCAAGCATTTCTTGTATATGCAGCTTTAAGACTGAAAGCCAGAAATGAATCCGTTTCATCAGTGAAACTGTTCTTTCAGAAGTAGACCTGAAATTGTTTTAAGAAATTTTTTAGTAATAAAATAGGTTTGTGCAGCCCGGGGTCAGGAAGGGTTGGAGGGCTTTCCACCTGGCATCCTGCCGTCCCAGGGCTGGGACTTCACTCACTGGTTGATAAAAGCTTTTCTCCGGTGACTCAGTGGTCCCACTGACCTGAGACCCCCATTAAAACCCTTTAAAGGAATTGGGAGCAGGTACAATAACGTGAGCCTGAGACATCTTCCGGAAGCTGCCCTTTGCCTCAATTCTTATTATCCAGCCTGTTTCTGTGGGTTGGCCCTGGTCCCTCCTGAGTGCTTTGTTTTGAAGTCTGTTTAGTGAAGAATTCGGGGTGGGGAGCTGGGCTCTGTTGAGATTTTGTGGCATGTCACTTAAATACCCACCTCTGTGGCCTTTCGGAGGCCTCAGCGCTGTAGCAGGAGTTTGTGTGCATGTGGATGGTGTGTGGGCACATGTGGATGAGTGTGTGGATGGGTGTGTGAATGGTGTGTGTGTGTGTGTAGATGCTGTGTGGTTTTGTAGTTGGGGTGTATGTGGATGGTGTGTGTGTAGATGGCATGTGGATGATGTGTGGGTGCATGTGGCTGGTGGATGGGTGTGTGTATGGGTGGTGGATGGGTGCGTGTGGCTGGTATGTGGGGGTGTGTGGGTGGTGTGTGGGTGTGTACATGGTGTTCGGGTGTGTGTGGCTGGTGTGTGGGTGTGTAGATGGTGTTTGGGTACTTGTGGCTGGTGCAGGTGTGTGGGTGTGTGGCTGGTGTGTGGATGTGTATATGGTGTGTGGGTGTGTGTGGC
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Task1_train_13466
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A mutation on Chromosome 9 affecting COL5A1, LOC101448202 (collagen type V alpha 1 chain| uncharacterized LOC101448202) has been found. Is it harmful or harmless? What disease, if any, does it cause?
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Pathogenic; Ehlers-Danlos syndrome, classic type, 1
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ACGTGCATCCTGTATATGTGCATGCATGTGTAATGTGTGTGTACATGGTTTGTATGTGCATGTGTGTGTGCATGATGTGTGTATGGGTATGCATGCATATATGTGGGGCACATATGTGTGTGCATGTGTAGTGTGTGTATATTGTATACGTGCATGCATGGCCGTGTGTGTGTGCATATGTATATGTGTACATGCATGTCTGGGATATATGTGCATGTGTGTGTGTGTGTTGGGATGGGGGAGCACTAGACAAGGCCCTGGAGGTGAAAGGTGAAGCCCAGTTTGAACCAGGGCATGGCGAGTGCACTATTGGACACCCCCCTTTGGTTGTGGAGTCTCTCCAACTCCCATCGTCATCTTAGCTGTGGCCTTCTGGAAGTGAATGGCTCTTTGCATCAGGAGGCATTCATGTGGCCCCACTGTGTTCAGCCCCAGCTAGGGCTGCAGAGGCCAGACTGGGGAGACCTGGTCCCTTTCCTCAAGGCTTGGCCTTTTGTGTGGCTGAGGGCAGGATGGCAGATGCAAGCCCAAGGCTGCAAACTGTTAAGTTTCAGCTCTAGAGAGAAAGGAGAGGTGCTCCATGCTGGCAAGCACCTGGCAGTGGGGATGGGTGTGGAATGTTCCAGAGACTGGAGGAAGGGATGGAAACAGTTCTAAGGCGGACAGATGTCCATGTAGCCCAGGTTGCCAGGCCCCAGGGAACCCCTGCAGATGTGGCCCCAGCTGTCCCTGCTCTGCTCATATCCTGGGACCCTTCCCATCCTCCATCACCCACCGCTGCTCCTGTTCTGTCCCCCAGGGCCCCCCGGGAGAGGTCATCCAGCCCCTGCCAATCCAGGCATCCAGGACGCGGCGGAACATCGACGCCAGCCAGCTGCTGGACGACGGGAATGGCGAGAACTACGTGGACTACGCGGACGGCATGGAAGAGATCTTCGGCTCTCTCAACTCTCTGAAGCTGGAGATTGAGCAGATGAAACGGCCCCTGGGCACGCAGCAGAACCCCGCCCGCACCTGCAAGGACCTGCAGCTCTGCCACCCCGACTTCCCAGATGGTGAGGGCCTGGGGGGGCAGGGGTGGCCCCCCAAAGCGGGCATGGACCTGCAGGACACATGGAGTGTGGCAAGGACAGTTCAGCCAGGCACAGCGGAAGGGACAGGACGGGCAGCCGCAGCCTCCCCATCTGTGGGGCCGGGGTGCGCAAGAGCCTCCCCTCTTGAACTTTATGGAGGCATCTCAGGGTGAGGCCGGGTGCAGAGGCCAAGGCTTTGAGGTCAGACTCTCCAGGTTCTCATCTGGTCTTAGGCATTTTCTGGCGGGGTGACCTGCTTGAACCTCGTGTTCCTGACCTGTCAAATGGGAACAGAAACATCTCCCAGGAAGAGGACAGAGTTGCGTGAGGCAGTGCCTGAGAGGCTGGCACAGTGCCAGTGGAAGTAAGGGTCAGTGTTAGGACCGGCAGCAGACGCTGTGCTTGGGCAAACGGCCTTCAAACTCCGCGATACTGTAAAAACACATCCTTCTCCTCACCATCATAGCCTCAGGCACCAATTGAAGGATAAATTCCCATTAGCTTTTCTTCCCCCTGGGAAGTTTGAATGTTCCCCCTGCAAGATTCGAGGGATGTTCATGGTTCCAGTAGACTCTGATCCTACATGCATGAATTTCCAGAGTTCCTTCCAGAACCCTCTCTGCATTTCTGTCCACCCAGAGAGTAGGCCGGACCCCAACCCTCCTGGCCACCAGAACACGTACCCAGTTGCTTCATGCACCAGCTGTGTTCTTGGTGAATGAGTTTGTCCACATCTCTTTATGGGCCCAGCAGGAGAAGCAAAATGCAATAAAGTAAACCCCAGAAAGGCCCGTGTTGGCGGCATTCCTGGGGCGTGCATTTTAACTGCTGGACTGAAATGTCACAGCGGCTTCCGGAACCATCCAGGGAGCAATCCTTCTGACTCTGCCTGCCTCCCTCCCCGTCTCTGAAATCCAGGTGAATACTGGGTCGATCCTAACCAAGGATGCTCCAGGGATTCCTTCAAGGTTTACTGCAACTTCACAGCCGGGGGGTCGACATGCGTCTTCCCTGACAAGAAGTCCGAAGGGGTGAGTAGCTGTGTCCCTCCATGGCCCCAGCGGGGCAGGCGTCACAGACAGGGCCATGCCGAGGGCTTCAAGCATTTCTTGTATATGCAGCTTTAAGACTGAAAGCCAGAAATGAATCCGTTTCATCAGTGAAACTGTTCTTTCAGAAGTAGACCTGAAATTGTTTTAAGAAATTTTTTAGTAATAAAATAGGTTTGTGCAGCCCGGGGTCAGGAAGGGTTGGAGGGCTTTCCACCTGGCATCCTGCCGTCCCAGGGCTGGGACTTCACTCACTGGTTGATAAAAGCTTTTCTCCGGTGACTCAGTGGTCCCACTGACCTGAGACCCCCATTAAAACCCTTTAAAGGAATTGGGAGCAGGTACAATAACGTGAGCCTGAGACATCTTCCGGAAGCTGCCCTTTGCCTCAATTCTTATTATCCAGCCTGTTTCTGTGGGTTGGCCCTGGTCCCTCCTGAGTGCTTTGTTTTGAAGTCTGTTTAGTGAAGAATTCGGGGTGGGGAGCTGGGCTCTGTTGAGATTTTGTGGCATGTCACTTAAATACCCACCTCTGTGGCCTTTCGGAGGCCTCAGCGCTGTAGCAGGAGTTTGTGTGCATGTGGATGGTGTGTGGGCACATGTGGATGAGTGTGTGGATGGGTGTGTGAATGGTGTGTGTGTGTGTGTAGATGCTGTGTGGTTTTGTAGTTGGGGTGTATGTGGATGGTGTGTGTGTAGATGGCATGTGGATGATGTGTGGGTGCATGTGGCTGGTGGATGGGTGTGTGTATGGGTGGTGGATGGGTGCGTGTGGCTGGTATGTGGGGGTGTGTGGGTGGTGTGTGGGTGTGTACATGGTGTTCGGGTGTGTGTGGCTGGTGTGTGGGTGTGTAGATGGTGTTTGGGTACTTGTGGCTGGTGCAGGTGTGTGGGTGTGTGGCTGGTGTGTGGATGTGTATATGGTGTGTGGGTGTGTGTGGCTGGTGTATGTGGGTGCATGTGGCTGGCATGTGCATGCATGTAGACGGGCGTGTGTTGCTATCCCTCAAGCATGCACCTGAGGCAGGTCCAGCCTTGGCCCAGGCGAGGACTGAGTCTCCCTGTTGCTCCTGGAAGGTGACCAAGCCTGCAGCTCTCGTGCCCCTGCATCAGCTTGAACGGCCTCTCCTTCATGAGCTCGCAGTTGTCGCGTGGCCCCAGGCAAAGGCCGCCCATTTCTGGGGCCGCAGCGGTTTGCTGTGCAGGTCCAGACCTGTGCGCCCCTGCAGCCTCTGCTTCCTAACAACCTCAGTGCCCCAGAAGCAGTTTCCTGCCAGGGGAAGAGCAGCTACGTTCTCCCCAGGGACCGCCATCCCCTTACCCCTCAATCACGCCCTGACCGTGCTGAGCTCAGTAGCCACTTTGGGTTAGGAGCCCACTGGCTGCAGTGGAGGCTGCACATGGCTGGAGATCTGTGGGGCTCCAAGTGCAGGGGTCCCCTCCCCCACCTGAAGTTTTAACTCCTTGAGAACCTGCCTTCCTAGTGACAAACCCTGTTCAGAGAGAATCCAAACACGGGGGCCTTCCATCTCGGCTCTCGTTTCCCTCAGTCTGGCCAGAGGCCCCGCGTGGAATTCCCTTAGAAAAGAGGTTTCTCGGCCCTCCTTCGCGGCCTGCCTCTGCAAATGGGTGGCCTTGCCGCTGTGGAAATCACGGGCCAGACTCCTCCAAACTCAGAGGTTTCCTGGGAAGCCGCGGCTGGTGTTCACGGCACAGCAGCGTGGGGCTGCTGAGCGACCCCAGGCTCCCCCAGTGTTGACCAGCCAGGCGTCCACAGGCTGCAGCCTCGGGCCTGGGCTACAGCTGCTTGGCCAAGGGCAAGTGGAGACGCTTTCCGAGGTGGCCCCCTTGGACCCGGAGGAGGCTCACAGCAGAGGCTGGGGGAGCCCGCGCTTGCCCACATCCCGGGACTCTTCCAGGAAGAAGCTGCCTTCACGCCGCCTGGGCTTGGCATTGACAGTGGCAGATTTGGAA
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ACGTGCATCCTGTATATGTGCATGCATGTGTAATGTGTGTGTACATGGTTTGTATGTGCATGTGTGTGTGCATGATGTGTGTATGGGTATGCATGCATATATGTGGGGCACATATGTGTGTGCATGTGTAGTGTGTGTATATTGTATACGTGCATGCATGGCCGTGTGTGTGTGCATATGTATATGTGTACATGCATGTCTGGGATATATGTGCATGTGTGTGTGTGTGTTGGGATGGGGGAGCACTAGACAAGGCCCTGGAGGTGAAAGGTGAAGCCCAGTTTGAACCAGGGCATGGCGAGTGCACTATTGGACACCCCCCTTTGGTTGTGGAGTCTCTCCAACTCCCATCGTCATCTTAGCTGTGGCCTTCTGGAAGTGAATGGCTCTTTGCATCAGGAGGCATTCATGTGGCCCCACTGTGTTCAGCCCCAGCTAGGGCTGCAGAGGCCAGACTGGGGAGACCTGGTCCCTTTCCTCAAGGCTTGGCCTTTTGTGTGGCTGAGGGCAGGATGGCAGATGCAAGCCCAAGGCTGCAAACTGTTAAGTTTCAGCTCTAGAGAGAAAGGAGAGGTGCTCCATGCTGGCAAGCACCTGGCAGTGGGGATGGGTGTGGAATGTTCCAGAGACTGGAGGAAGGGATGGAAACAGTTCTAAGGCGGACAGATGTCCATGTAGCCCAGGTTGCCAGGCCCCAGGGAACCCCTGCAGATGTGGCCCCAGCTGTCCCTGCTCTGCTCATATCCTGGGACCCTTCCCATCCTCCATCACCCACCGCTGCTCCTGTTCTGTCCCCCAGGGCCCCCCGGGAGAGGTCATCCAGCCCCTGCCAATCCAGGCATCCAGGACGCGGCGGAACATCGACGCCAGCCAGCTGCTGGACGACGGGAATGGCGAGAACTACGTGGACTACGCGGACGGCATGGAAGAGATCTTCGGCTCTCTCAACTCTCTGAAGCTGGAGATTGAGCAGATGAAACGGCCCCTGGGCACGCAGCAGAACCCCGCCCGCACCTGCAAGGACCTGCAGCTCTGCCACCCCGACTTCCCAGATGGTGAGGGCCTGGGGGGGCAGGGGTGGCCCCCCAAAGCGGGCATGGACCTGCAGGACACATGGAGTGTGGCAAGGACAGTTCAGCCAGGCACAGCGGAAGGGACAGGACGGGCAGCCGCAGCCTCCCCATCTGTGGGGCCGGGGTGCGCAAGAGCCTCCCCTCTTGAACTTTATGGAGGCATCTCAGGGTGAGGCCGGGTGCAGAGGCCAAGGCTTTGAGGTCAGACTCTCCAGGTTCTCATCTGGTCTTAGGCATTTTCTGGCGGGGTGACCTGCTTGAACCTCGTGTTCCTGACCTGTCAAATGGGAACAGAAACATCTCCCAGGAAGAGGACAGAGTTGCGTGAGGCAGTGCCTGAGAGGCTGGCACAGTGCCAGTGGAAGTAAGGGTCAGTGTTAGGACCGGCAGCAGACGCTGTGCTTGGGCAAACGGCCTTCAAACTCCGCGATACTGTAAAAACACATCCTTCTCCTCACCATCATAGCCTCAGGCACCAATTGAAGGATAAATTCCCATTAGCTTTTCTTCCCCCTGGGAAGTTTGAATGTTCCCCCTGCAAGATTCGAGGGATGTTCATGGTTCCAGTAGACTCTGATCCTACATGCATGAATTTCCAGAGTTCCTTCCAGAACCCTCTCTGCATTTCTGTCCACCCAGAGAGTAGGCCGGACCCCAACCCTCCTGGCCACCAGAACACGTACCCAGTTGCTTCATGCACCAGCTGTGTTCTTGGTGAATGAGTTTGTCCACATCTCTTTATGGGCCCAGCAGGAGAAGCAAAATGCAATAAAGTAAACCCCAGAAAGGCCCGTGTTGGCGGCATTCCTGGGGCGTGCATTTTAACTGCTGGACTGAAATGTCACAGCGGCTTCCGGAACCATCCAGGGAGCAATCCTTCTGACTCTGCCTGCCTCCCTCCCCGTCTCTGAAATCCAGGTGAATACTGGGTCGATCCTAACCAAGGATGCTCCAGGGATTCCTTCAAGGTTTACTACAACTTCACAGCCGGGGGGTCGACATGCGTCTTCCCTGACAAGAAGTCCGAAGGGGTGAGTAGCTGTGTCCCTCCATGGCCCCAGCGGGGCAGGCGTCACAGACAGGGCCATGCCGAGGGCTTCAAGCATTTCTTGTATATGCAGCTTTAAGACTGAAAGCCAGAAATGAATCCGTTTCATCAGTGAAACTGTTCTTTCAGAAGTAGACCTGAAATTGTTTTAAGAAATTTTTTAGTAATAAAATAGGTTTGTGCAGCCCGGGGTCAGGAAGGGTTGGAGGGCTTTCCACCTGGCATCCTGCCGTCCCAGGGCTGGGACTTCACTCACTGGTTGATAAAAGCTTTTCTCCGGTGACTCAGTGGTCCCACTGACCTGAGACCCCCATTAAAACCCTTTAAAGGAATTGGGAGCAGGTACAATAACGTGAGCCTGAGACATCTTCCGGAAGCTGCCCTTTGCCTCAATTCTTATTATCCAGCCTGTTTCTGTGGGTTGGCCCTGGTCCCTCCTGAGTGCTTTGTTTTGAAGTCTGTTTAGTGAAGAATTCGGGGTGGGGAGCTGGGCTCTGTTGAGATTTTGTGGCATGTCACTTAAATACCCACCTCTGTGGCCTTTCGGAGGCCTCAGCGCTGTAGCAGGAGTTTGTGTGCATGTGGATGGTGTGTGGGCACATGTGGATGAGTGTGTGGATGGGTGTGTGAATGGTGTGTGTGTGTGTGTAGATGCTGTGTGGTTTTGTAGTTGGGGTGTATGTGGATGGTGTGTGTGTAGATGGCATGTGGATGATGTGTGGGTGCATGTGGCTGGTGGATGGGTGTGTGTATGGGTGGTGGATGGGTGCGTGTGGCTGGTATGTGGGGGTGTGTGGGTGGTGTGTGGGTGTGTACATGGTGTTCGGGTGTGTGTGGCTGGTGTGTGGGTGTGTAGATGGTGTTTGGGTACTTGTGGCTGGTGCAGGTGTGTGGGTGTGTGGCTGGTGTGTGGATGTGTATATGGTGTGTGGGTGTGTGTGGCTGGTGTATGTGGGTGCATGTGGCTGGCATGTGCATGCATGTAGACGGGCGTGTGTTGCTATCCCTCAAGCATGCACCTGAGGCAGGTCCAGCCTTGGCCCAGGCGAGGACTGAGTCTCCCTGTTGCTCCTGGAAGGTGACCAAGCCTGCAGCTCTCGTGCCCCTGCATCAGCTTGAACGGCCTCTCCTTCATGAGCTCGCAGTTGTCGCGTGGCCCCAGGCAAAGGCCGCCCATTTCTGGGGCCGCAGCGGTTTGCTGTGCAGGTCCAGACCTGTGCGCCCCTGCAGCCTCTGCTTCCTAACAACCTCAGTGCCCCAGAAGCAGTTTCCTGCCAGGGGAAGAGCAGCTACGTTCTCCCCAGGGACCGCCATCCCCTTACCCCTCAATCACGCCCTGACCGTGCTGAGCTCAGTAGCCACTTTGGGTTAGGAGCCCACTGGCTGCAGTGGAGGCTGCACATGGCTGGAGATCTGTGGGGCTCCAAGTGCAGGGGTCCCCTCCCCCACCTGAAGTTTTAACTCCTTGAGAACCTGCCTTCCTAGTGACAAACCCTGTTCAGAGAGAATCCAAACACGGGGGCCTTCCATCTCGGCTCTCGTTTCCCTCAGTCTGGCCAGAGGCCCCGCGTGGAATTCCCTTAGAAAAGAGGTTTCTCGGCCCTCCTTCGCGGCCTGCCTCTGCAAATGGGTGGCCTTGCCGCTGTGGAAATCACGGGCCAGACTCCTCCAAACTCAGAGGTTTCCTGGGAAGCCGCGGCTGGTGTTCACGGCACAGCAGCGTGGGGCTGCTGAGCGACCCCAGGCTCCCCCAGTGTTGACCAGCCAGGCGTCCACAGGCTGCAGCCTCGGGCCTGGGCTACAGCTGCTTGGCCAAGGGCAAGTGGAGACGCTTTCCGAGGTGGCCCCCTTGGACCCGGAGGAGGCTCACAGCAGAGGCTGGGGGAGCCCGCGCTTGCCCACATCCCGGGACTCTTCCAGGAAGAAGCTGCCTTCACGCCGCCTGGGCTTGGCATTGACAGTGGCAGATTTGGAA
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Task1_train_13467
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Here is a genetic alteration in LOC101928525, MRPS2 (uncharacterized LOC101928525| mitochondrial ribosomal protein S2) on Chromosome 9. Based on the data, is it a benign variant or a cause of disease?
|
Pathogenic; Combined oxidative phosphorylation deficiency 36
|
GGGAGGTGCCAGAAAGACCTGAGCAACCCGCTGGGCCCCTCTCTTTTTCTCCTCTGTCTTCCAAGTAAGACCAAGGGACGGGGTTGACCAGGTTCGACCAGGCTTACCCAGGAGCAAGGTCGGGATCAGAACCTGGCTCCAGCCCTCTGTTTCCTGAAAAGGTCCCTGTGCTTCCAGGTCTTTCCTGGGGCTGCTGGGCTCCCGGCTCCCCACCTCGGTGTCACAGAAGGCACTTGGGAGCAGGGGTGGGCGGGAACTGCGCTCTGCCTGTCTCTGCTGCCACCGGTGGGAGACGCAGCGTCGCTCCTCCTCCCTGCCGTAGATTTCAACGACAAGATTTTGAATGAGCCCCTCAAGCACTCTGACTTCTTCAATGTCAAGGAACTGTTTTCCGTGAGAAGCCTCTTCGATGCCCGAGTCCATCTGGGACACAAAGCTGGCTGTCGGCACAGGTAGGTGACACCCCCATCTGAGCCCGGGGCGGTTCCCAGGAGGAACCTGGGACCTGCTCTGGTTCTAGGGCCACTTTTGAACTGGCCTATGTCAGTTTTAGGTGATTACAGCCCCATCCTCCTCCACATGGGAATACAGAGCCCCACAGAGAAGCAGGAGTTTATTCCTCAGCTTGGCGGACGCTCTTGTGTGCCTTGGTGTGGCGCTCACAGCCCTTGATAGGGCAGGCCTGCTGGGGGTTGCAGGACTCCACGGGTTCAGAAATGGAAAGGCTGAGGGCAGAACCTGTAAGGTTGGTCCCCCCGGATCGGGCTGGGCCTTCTGGGCTGCGGGGAGGAGGAATGACTGGTCCTGTATTCTCACATGGTCATTTTGACTGCTGTGGGGGGAGGGGATGGGAGGGGCAGGTGGGAGGCCAGGGAGGAGGTTGGTGTGGGCGTTCAGGGTGAAGGTGGCGGGGCTTAAATCGCAGTAGCGGAAGAGCTGGAGCAGCAGGTGGACATGAGGCAGCAGGGCAGAGCCAGTGGGCCTTGGGCTGGGGTGGGAGGTGGCTGGGGCCGAAGGGATCAAACACCTGCTCTTCGGGTGGAGCCTGGTACTGGTTACTGAGATGGTGAAAACCAGGGGAGACCTGGGGGACATCACAAGCTTGGTTCCTACCAGGTATGAACCCTTTGCTGCCCCAGTGGAGAGGTCACACGGTTACCAGGAGGGATGGGCCTGGGCCCAGGGAGCCATCAGCATCGGGGGCTGGCAGGTGTTTCCAGAGCATCGGAAAAGGAGGTCCAAGGTGGAGCCCTGGGTGCTCCAGTGTTTGGAGTCAGTGAAGAGGGACAGCCGGGGGTAGGGGAGATGTGGTTCTCTGTTGATGCTGCTGAGAAGTGAATTCAAGGCTGTGACCTTGGCAAGATGGAGGTCGCCAGTGCCTTGATGGGCAGGGTTGCTTGAGAGGAAGGGACAGAACCCAGTGGGAGTAGACTGGAGGTGAGGACCTGGGAACCGCAAATGTGGATGACTCGCCTGTCACGCACCGAGAGGCGGGGGTGTCTCCCATGCCCCGCTTTTCTCAGCCCAGGCCAGCAGTGGTCCAGTGCTTTGGATCAGGGTTCCCCGCCCAGGCTTGGCCACTCCTGCCCTGATCCCTTAATGCTTTTGGCCCAGAGCACCCCGCTAAGTCCAACCCCAGAGGGGCCTCATCCGCAAAGCCTCGGGAAGAGGACAGTGACGGAGGCGGCTGCCCTGTGAGCTGCACGGGGCAGAATGTCCTTTTGGCGTCATGTTGGATGTCCACACATCCATATGGGGTCAGTTCTATTAGGATTCCTTCGGGAAGAGGTAGAGGGTAGGAGGGGTTAAGCCACGAGACGAGGCATGCAGAGGGGTGGCCTGGATGGGTCTGCACTGCTGTCCATGCACACGGGGAGCGTTGCAAATTGTGCTTCCCAGCCCATAGTGCCCCCACAGAGGAGCCCGGGAGTCCCTGGTGGGCGTCTGTGTTCCTGCAAGGAGCCAGTGGAGATGGCCCCGTGAACTCTCATCCCCCTTGCCTTGGTGGGGTCTCTGGCAGGTTTATGGAGCCGTACATCTTTGGGAGCCGCCTGGACCACGACATCATCGACCTGGAACAGACAGCCACGCACCTCCAGCTGGCCTTGAACTTCACCGCCCACATGGCCTACCGCAAGGGCATCATCTTGTTTATAAGCCGCAACCGGCAGTTCTCGTACCTGATTGAGAACATGGCCCGTGACTGTGGCGAGTACGCCCACACTCGCTACTTCAGGGGCGGCATGCTGACCAACGCGCGCCTCCTCTTTGGCCCCACGGTCCGCCTGCCGGACCTCATCATCTTCCTGCACACGCTCAACAACATCTTTGAGCCACACGTGGCCGTGAGAGACGCAGCCAAGATGAACATCCCCACAGTGGGCATCGTGGACACCAACTGCAACCCCTGCCTCATCACCTACCCTGTACCCGGCAATGACGACTCTCCGCTGGCTGTGCACCTCTACTGCAGGCTCTTCCAGACGGCCATCACCCGGGCCAAGGAGAAGCGGCAGCAGGTTGAGGCTCTCTATCGCCTGCAGGGCCAGAAGGAGCCCGGGGACCAGGGGCCAGCCCACCCTCCTGGGGCTGACATGAGCCATTCCCTGTGATGTTCACTCTCCTCCCAAAGCAAACCACAGCCAAGCCTGTCTGAGCTGGGAGTCCCCTTCCCCAGCCCTGGGTCAGCGGCATCCTCAGTCGTTGTTACTTACTCAGCTGATGTCACAGTGCAGACATCCACCGTTCCACCACAGAACCAGTGGCTGAGCGGACCAACGTTGCCATGTGCGTTTGCTCTGTGGGGAACAGAGCACAGAGGGTGAGCGACATGTGCAGAACGGCCCCTTGGCTGCAGTTAGGACCTCAGTGGCTGGTATGGCCAAGCTGCTAGAAGATGCTGCTGTCCCTGTGATCCCAGCAGCCCTCCCTTCACCGTGACCCCTGACCTTTGTCAGGAAGGTGCAGTTTTTCTTCTCAATCTAAATGCCTTTCAGGTGGGCCGCTTCCTTGGCTACCTGGTTCCAGGGGGCTGTTTTGTAATGAGATGCTGCTGGCAGGCCACTCAGAGGCTCCCAGCTGGGTTGGTGGGACAGCCAGGCCAGATGACCTGATTCCAGCAAAAATAAAACTCAGATTTGGGCAAAATGAGACTTGGAGTTTGGGGCTCTGTCTCGAGTGGGTTTGCTTTCATCCATGTGGTGTGGTTTTTCTTCAGGCACACACTGGGACCCCAGTGATGAGAGATGGGACGGGCACTGTGTGTGTGAGGCGCATGAATGAGGTCAGCAGAGGTGCCAGCTGCCACTAGAGGGCACCGTCTTCAGCAGTGGAGCTCGTGACAAGCCCACAGCCCGGCCAGCCTCATTCAGCAGAACAGGCTTGGTGTGGACCCAGTTTCAGGAAAGACGGGCACTTGCTGACAGGGACGCTTAACATCCCTCACCTGTGGGGATACAGCTGTGTTCCTGGAACAAGCTGCGGCCTCCTCCCAGCCCCATCCCGAGCTGCTTAGGACATAGGCCCCCCATGCACCTGACCACCCAAGGAGCCGTCTCTGGGCAGAGTCTGGGCAGCAGGGCCCTGTGGAGTCTGGTGCCCTGGGTAGGGTGAGGCCTGCCCTGCAGGAGCGGCACAGGGCAATGGGAGGCTGGAGTCCAGCGCCTATCCCTGTCCCTTCAGGGTTAGGCTGGTGAGGGGTTCATGGTAGGTGTCCCCAGGTTTGTCACAGGTTTGTGATCTGGTCGGGACAGGGAGCTGAGCTTCAGGTTGGTCTCTGGCCAGCATGGCTTTAATTTGCAAAGCCGAAGTCTGAAGATGCACGTGTATAAAGGCAGGTGAAGTGAGGGCCCCTCCAAGGCTCCCCCTAGAATCCCTCTCAGGGTGGGCAGGTGAGACACTCTGAGCTGGGTCTCCTGTCCCACCATGCTGGGGAGGCCAGCTGCGGGGAGCCAGGACCCTGGAGATGAGACAGGAGTACCAAACACTGGGGACTGACTGGGGGGCTTCCAGGAGGTGCCCCTGGAGCTGCGACTGATCCTTCCCTGGGAGAGGCCTTTGTAGCTTGGGTCCAGGCCTGGCCCTTCTCTGCTAAGCC
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GGGAGGTGCCAGAAAGACCTGAGCAACCCGCTGGGCCCCTCTCTTTTTCTCCTCTGTCTTCCAAGTAAGACCAAGGGACGGGGTTGACCAGGTTCGACCAGGCTTACCCAGGAGCAAGGTCGGGATCAGAACCTGGCTCCAGCCCTCTGTTTCCTGAAAAGGTCCCTGTGCTTCCAGGTCTTTCCTGGGGCTGCTGGGCTCCCGGCTCCCCACCTCGGTGTCACAGAAGGCACTTGGGAGCAGGGGTGGGCGGGAACTGCGCTCTGCCTGTCTCTGCTGCCACCGGTGGGAGACGCAGCGTCGCTCCTCCTCCCTGCCGTAGATTTCAACGACAAGATTTTGAATGAGCCCCTCAAGCACTCTGACTTCTTCAATGTCAAGGAACTGTTTTCCGTGAGAAGCCTCTTCGATGCCCGAGTCCATCTGGGACACAAAGCTGGCTGTCGGCACAGGTAGGTGACACCCCCATCTGAGCCCGGGGCGGTTCCCAGGAGGAACCTGGGACCTGCTCTGGTTCTAGGGCCACTTTTGAACTGGCCTATGTCAGTTTTAGGTGATTACAGCCCCATCCTCCTCCACATGGGAATACAGAGCCCCACAGAGAAGCAGGAGTTTATTCCTCAGCTTGGCGGACGCTCTTGTGTGCCTTGGTGTGGCGCTCACAGCCCTTGATAGGGCAGGCCTGCTGGGGGTTGCAGGACTCCACGGGTTCAGAAATGGAAAGGCTGAGGGCAGAACCTGTAAGGTTGGTCCCCCCGGATCGGGCTGGGCCTTCTGGGCTGCGGGGAGGAGGAATGACTGGTCCTGTATTCTCACATGGTCATTTTGACTGCTGTGGGGGGAGGGGATGGGAGGGGCAGGTGGGAGGCCAGGGAGGAGGTTGGTGTGGGCGTTCAGGGTGAAGGTGGCGGGGCTTAAATCGCAGTAGCGGAAGAGCTGGAGCAGCAGGTGGACATGAGGCAGCAGGGCAGAGCCAGTGGGCCTTGGGCTGGGGTGGGAGGTGGCTGGGGCCGAAGGGATCAAACACCTGCTCTTCGGGTGGAGCCTGGTACTGGTTACTGAGATGGTGAAAACCAGGGGAGACCTGGGGGACATCACAAGCTTGGTTCCTACCAGGTATGAACCCTTTGCTGCCCCAGTGGAGAGGTCACACGGTTACCAGGAGGGATGGGCCTGGGCCCAGGGAGCCATCAGCATCGGGGGCTGGCAGGTGTTTCCAGAGCATCGGAAAAGGAGGTCCAAGGTGGAGCCCTGGGTGCTCCAGTGTTTGGAGTCAGTGAAGAGGGACAGCCGGGGGTAGGGGAGATGTGGTTCTCTGTTGATGCTGCTGAGAAGTGAATTCAAGGCTGTGACCTTGGCAAGATGGAGGTCGCCAGTGCCTTGATGGGCAGGGTTGCTTGAGAGGAAGGGACAGAACCCAGTGGGAGTAGACTGGAGGTGAGGACCTGGGAACCGCAAATGTGGATGACTCGCCTGTCACGCACCGAGAGGCGGGGGTGTCTCCCATGCCCCGCTTTTCTCAGCCCAGGCCAGCAGTGGTCCAGTGCTTTGGATCAGGGTTCCCCGCCCAGGCTTGGCCACTCCTGCCCTGATCCCTTAATGCTTTTGGCCCAGAGCACCCCGCTAAGTCCAACCCCAGAGGGGCCTCATCCGCAAAGCCTCGGGAAGAGGACAGTGACGGAGGCGGCTGCCCTGTGAGCTGCACGGGGCAGAATGTCCTTTTGGCGTCATGTTGGATGTCCACACATCCATATGGGGTCAGTTCTATTAGGATTCCTTCGGGAAGAGGTAGAGGGTAGGAGGGGTTAAGCCACGAGACGAGGCATGCAGAGGGGTGGCCTGGATGGGTCTGCACTGCTGTCCATGCACACGGGGAGCGTTGCAAATTGTGCTTCCCAGCCCATAGTGCCCCCACAGAGGAGCCCGGGAGTCCCTGGTGGGCGTCTGTGTTCCTGCAAGGAGCCAGTGGAGATGGCCCCGTGAACTCTCATCCCCCTTGCCTTGGTGGGGTCTCTGGCAGGTTTATGGAGCCGTACATCTTTGGGAGCTGCCTGGACCACGACATCATCGACCTGGAACAGACAGCCACGCACCTCCAGCTGGCCTTGAACTTCACCGCCCACATGGCCTACCGCAAGGGCATCATCTTGTTTATAAGCCGCAACCGGCAGTTCTCGTACCTGATTGAGAACATGGCCCGTGACTGTGGCGAGTACGCCCACACTCGCTACTTCAGGGGCGGCATGCTGACCAACGCGCGCCTCCTCTTTGGCCCCACGGTCCGCCTGCCGGACCTCATCATCTTCCTGCACACGCTCAACAACATCTTTGAGCCACACGTGGCCGTGAGAGACGCAGCCAAGATGAACATCCCCACAGTGGGCATCGTGGACACCAACTGCAACCCCTGCCTCATCACCTACCCTGTACCCGGCAATGACGACTCTCCGCTGGCTGTGCACCTCTACTGCAGGCTCTTCCAGACGGCCATCACCCGGGCCAAGGAGAAGCGGCAGCAGGTTGAGGCTCTCTATCGCCTGCAGGGCCAGAAGGAGCCCGGGGACCAGGGGCCAGCCCACCCTCCTGGGGCTGACATGAGCCATTCCCTGTGATGTTCACTCTCCTCCCAAAGCAAACCACAGCCAAGCCTGTCTGAGCTGGGAGTCCCCTTCCCCAGCCCTGGGTCAGCGGCATCCTCAGTCGTTGTTACTTACTCAGCTGATGTCACAGTGCAGACATCCACCGTTCCACCACAGAACCAGTGGCTGAGCGGACCAACGTTGCCATGTGCGTTTGCTCTGTGGGGAACAGAGCACAGAGGGTGAGCGACATGTGCAGAACGGCCCCTTGGCTGCAGTTAGGACCTCAGTGGCTGGTATGGCCAAGCTGCTAGAAGATGCTGCTGTCCCTGTGATCCCAGCAGCCCTCCCTTCACCGTGACCCCTGACCTTTGTCAGGAAGGTGCAGTTTTTCTTCTCAATCTAAATGCCTTTCAGGTGGGCCGCTTCCTTGGCTACCTGGTTCCAGGGGGCTGTTTTGTAATGAGATGCTGCTGGCAGGCCACTCAGAGGCTCCCAGCTGGGTTGGTGGGACAGCCAGGCCAGATGACCTGATTCCAGCAAAAATAAAACTCAGATTTGGGCAAAATGAGACTTGGAGTTTGGGGCTCTGTCTCGAGTGGGTTTGCTTTCATCCATGTGGTGTGGTTTTTCTTCAGGCACACACTGGGACCCCAGTGATGAGAGATGGGACGGGCACTGTGTGTGTGAGGCGCATGAATGAGGTCAGCAGAGGTGCCAGCTGCCACTAGAGGGCACCGTCTTCAGCAGTGGAGCTCGTGACAAGCCCACAGCCCGGCCAGCCTCATTCAGCAGAACAGGCTTGGTGTGGACCCAGTTTCAGGAAAGACGGGCACTTGCTGACAGGGACGCTTAACATCCCTCACCTGTGGGGATACAGCTGTGTTCCTGGAACAAGCTGCGGCCTCCTCCCAGCCCCATCCCGAGCTGCTTAGGACATAGGCCCCCCATGCACCTGACCACCCAAGGAGCCGTCTCTGGGCAGAGTCTGGGCAGCAGGGCCCTGTGGAGTCTGGTGCCCTGGGTAGGGTGAGGCCTGCCCTGCAGGAGCGGCACAGGGCAATGGGAGGCTGGAGTCCAGCGCCTATCCCTGTCCCTTCAGGGTTAGGCTGGTGAGGGGTTCATGGTAGGTGTCCCCAGGTTTGTCACAGGTTTGTGATCTGGTCGGGACAGGGAGCTGAGCTTCAGGTTGGTCTCTGGCCAGCATGGCTTTAATTTGCAAAGCCGAAGTCTGAAGATGCACGTGTATAAAGGCAGGTGAAGTGAGGGCCCCTCCAAGGCTCCCCCTAGAATCCCTCTCAGGGTGGGCAGGTGAGACACTCTGAGCTGGGTCTCCTGTCCCACCATGCTGGGGAGGCCAGCTGCGGGGAGCCAGGACCCTGGAGATGAGACAGGAGTACCAAACACTGGGGACTGACTGGGGGGCTTCCAGGAGGTGCCCCTGGAGCTGCGACTGATCCTTCCCTGGGAGAGGCCTTTGTAGCTTGGGTCCAGGCCTGGCCCTTCTCTGCTAAGCC
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Task1_train_13468
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A genetic alteration is present in LOC101928525, MRPS2 (uncharacterized LOC101928525| mitochondrial ribosomal protein S2) on Chromosome 9. Is this variant benign or disease-causing, and if the latter, which condition is involved?
|
Pathogenic; Combined oxidative phosphorylation deficiency 36
|
AAAGACCTGAGCAACCCGCTGGGCCCCTCTCTTTTTCTCCTCTGTCTTCCAAGTAAGACCAAGGGACGGGGTTGACCAGGTTCGACCAGGCTTACCCAGGAGCAAGGTCGGGATCAGAACCTGGCTCCAGCCCTCTGTTTCCTGAAAAGGTCCCTGTGCTTCCAGGTCTTTCCTGGGGCTGCTGGGCTCCCGGCTCCCCACCTCGGTGTCACAGAAGGCACTTGGGAGCAGGGGTGGGCGGGAACTGCGCTCTGCCTGTCTCTGCTGCCACCGGTGGGAGACGCAGCGTCGCTCCTCCTCCCTGCCGTAGATTTCAACGACAAGATTTTGAATGAGCCCCTCAAGCACTCTGACTTCTTCAATGTCAAGGAACTGTTTTCCGTGAGAAGCCTCTTCGATGCCCGAGTCCATCTGGGACACAAAGCTGGCTGTCGGCACAGGTAGGTGACACCCCCATCTGAGCCCGGGGCGGTTCCCAGGAGGAACCTGGGACCTGCTCTGGTTCTAGGGCCACTTTTGAACTGGCCTATGTCAGTTTTAGGTGATTACAGCCCCATCCTCCTCCACATGGGAATACAGAGCCCCACAGAGAAGCAGGAGTTTATTCCTCAGCTTGGCGGACGCTCTTGTGTGCCTTGGTGTGGCGCTCACAGCCCTTGATAGGGCAGGCCTGCTGGGGGTTGCAGGACTCCACGGGTTCAGAAATGGAAAGGCTGAGGGCAGAACCTGTAAGGTTGGTCCCCCCGGATCGGGCTGGGCCTTCTGGGCTGCGGGGAGGAGGAATGACTGGTCCTGTATTCTCACATGGTCATTTTGACTGCTGTGGGGGGAGGGGATGGGAGGGGCAGGTGGGAGGCCAGGGAGGAGGTTGGTGTGGGCGTTCAGGGTGAAGGTGGCGGGGCTTAAATCGCAGTAGCGGAAGAGCTGGAGCAGCAGGTGGACATGAGGCAGCAGGGCAGAGCCAGTGGGCCTTGGGCTGGGGTGGGAGGTGGCTGGGGCCGAAGGGATCAAACACCTGCTCTTCGGGTGGAGCCTGGTACTGGTTACTGAGATGGTGAAAACCAGGGGAGACCTGGGGGACATCACAAGCTTGGTTCCTACCAGGTATGAACCCTTTGCTGCCCCAGTGGAGAGGTCACACGGTTACCAGGAGGGATGGGCCTGGGCCCAGGGAGCCATCAGCATCGGGGGCTGGCAGGTGTTTCCAGAGCATCGGAAAAGGAGGTCCAAGGTGGAGCCCTGGGTGCTCCAGTGTTTGGAGTCAGTGAAGAGGGACAGCCGGGGGTAGGGGAGATGTGGTTCTCTGTTGATGCTGCTGAGAAGTGAATTCAAGGCTGTGACCTTGGCAAGATGGAGGTCGCCAGTGCCTTGATGGGCAGGGTTGCTTGAGAGGAAGGGACAGAACCCAGTGGGAGTAGACTGGAGGTGAGGACCTGGGAACCGCAAATGTGGATGACTCGCCTGTCACGCACCGAGAGGCGGGGGTGTCTCCCATGCCCCGCTTTTCTCAGCCCAGGCCAGCAGTGGTCCAGTGCTTTGGATCAGGGTTCCCCGCCCAGGCTTGGCCACTCCTGCCCTGATCCCTTAATGCTTTTGGCCCAGAGCACCCCGCTAAGTCCAACCCCAGAGGGGCCTCATCCGCAAAGCCTCGGGAAGAGGACAGTGACGGAGGCGGCTGCCCTGTGAGCTGCACGGGGCAGAATGTCCTTTTGGCGTCATGTTGGATGTCCACACATCCATATGGGGTCAGTTCTATTAGGATTCCTTCGGGAAGAGGTAGAGGGTAGGAGGGGTTAAGCCACGAGACGAGGCATGCAGAGGGGTGGCCTGGATGGGTCTGCACTGCTGTCCATGCACACGGGGAGCGTTGCAAATTGTGCTTCCCAGCCCATAGTGCCCCCACAGAGGAGCCCGGGAGTCCCTGGTGGGCGTCTGTGTTCCTGCAAGGAGCCAGTGGAGATGGCCCCGTGAACTCTCATCCCCCTTGCCTTGGTGGGGTCTCTGGCAGGTTTATGGAGCCGTACATCTTTGGGAGCCGCCTGGACCACGACATCATCGACCTGGAACAGACAGCCACGCACCTCCAGCTGGCCTTGAACTTCACCGCCCACATGGCCTACCGCAAGGGCATCATCTTGTTTATAAGCCGCAACCGGCAGTTCTCGTACCTGATTGAGAACATGGCCCGTGACTGTGGCGAGTACGCCCACACTCGCTACTTCAGGGGCGGCATGCTGACCAACGCGCGCCTCCTCTTTGGCCCCACGGTCCGCCTGCCGGACCTCATCATCTTCCTGCACACGCTCAACAACATCTTTGAGCCACACGTGGCCGTGAGAGACGCAGCCAAGATGAACATCCCCACAGTGGGCATCGTGGACACCAACTGCAACCCCTGCCTCATCACCTACCCTGTACCCGGCAATGACGACTCTCCGCTGGCTGTGCACCTCTACTGCAGGCTCTTCCAGACGGCCATCACCCGGGCCAAGGAGAAGCGGCAGCAGGTTGAGGCTCTCTATCGCCTGCAGGGCCAGAAGGAGCCCGGGGACCAGGGGCCAGCCCACCCTCCTGGGGCTGACATGAGCCATTCCCTGTGATGTTCACTCTCCTCCCAAAGCAAACCACAGCCAAGCCTGTCTGAGCTGGGAGTCCCCTTCCCCAGCCCTGGGTCAGCGGCATCCTCAGTCGTTGTTACTTACTCAGCTGATGTCACAGTGCAGACATCCACCGTTCCACCACAGAACCAGTGGCTGAGCGGACCAACGTTGCCATGTGCGTTTGCTCTGTGGGGAACAGAGCACAGAGGGTGAGCGACATGTGCAGAACGGCCCCTTGGCTGCAGTTAGGACCTCAGTGGCTGGTATGGCCAAGCTGCTAGAAGATGCTGCTGTCCCTGTGATCCCAGCAGCCCTCCCTTCACCGTGACCCCTGACCTTTGTCAGGAAGGTGCAGTTTTTCTTCTCAATCTAAATGCCTTTCAGGTGGGCCGCTTCCTTGGCTACCTGGTTCCAGGGGGCTGTTTTGTAATGAGATGCTGCTGGCAGGCCACTCAGAGGCTCCCAGCTGGGTTGGTGGGACAGCCAGGCCAGATGACCTGATTCCAGCAAAAATAAAACTCAGATTTGGGCAAAATGAGACTTGGAGTTTGGGGCTCTGTCTCGAGTGGGTTTGCTTTCATCCATGTGGTGTGGTTTTTCTTCAGGCACACACTGGGACCCCAGTGATGAGAGATGGGACGGGCACTGTGTGTGTGAGGCGCATGAATGAGGTCAGCAGAGGTGCCAGCTGCCACTAGAGGGCACCGTCTTCAGCAGTGGAGCTCGTGACAAGCCCACAGCCCGGCCAGCCTCATTCAGCAGAACAGGCTTGGTGTGGACCCAGTTTCAGGAAAGACGGGCACTTGCTGACAGGGACGCTTAACATCCCTCACCTGTGGGGATACAGCTGTGTTCCTGGAACAAGCTGCGGCCTCCTCCCAGCCCCATCCCGAGCTGCTTAGGACATAGGCCCCCCATGCACCTGACCACCCAAGGAGCCGTCTCTGGGCAGAGTCTGGGCAGCAGGGCCCTGTGGAGTCTGGTGCCCTGGGTAGGGTGAGGCCTGCCCTGCAGGAGCGGCACAGGGCAATGGGAGGCTGGAGTCCAGCGCCTATCCCTGTCCCTTCAGGGTTAGGCTGGTGAGGGGTTCATGGTAGGTGTCCCCAGGTTTGTCACAGGTTTGTGATCTGGTCGGGACAGGGAGCTGAGCTTCAGGTTGGTCTCTGGCCAGCATGGCTTTAATTTGCAAAGCCGAAGTCTGAAGATGCACGTGTATAAAGGCAGGTGAAGTGAGGGCCCCTCCAAGGCTCCCCCTAGAATCCCTCTCAGGGTGGGCAGGTGAGACACTCTGAGCTGGGTCTCCTGTCCCACCATGCTGGGGAGGCCAGCTGCGGGGAGCCAGGACCCTGGAGATGAGACAGGAGTACCAAACACTGGGGACTGACTGGGGGGCTTCCAGGAGGTGCCCCTGGAGCTGCGACTGATCCTTCCCTGGGAGAGGCCTTTGTAGCTTGGGTCCAGGCCTGGCCCTTCTCTGCTAAGCCATTAGTGAGGAC
|
AAAGACCTGAGCAACCCGCTGGGCCCCTCTCTTTTTCTCCTCTGTCTTCCAAGTAAGACCAAGGGACGGGGTTGACCAGGTTCGACCAGGCTTACCCAGGAGCAAGGTCGGGATCAGAACCTGGCTCCAGCCCTCTGTTTCCTGAAAAGGTCCCTGTGCTTCCAGGTCTTTCCTGGGGCTGCTGGGCTCCCGGCTCCCCACCTCGGTGTCACAGAAGGCACTTGGGAGCAGGGGTGGGCGGGAACTGCGCTCTGCCTGTCTCTGCTGCCACCGGTGGGAGACGCAGCGTCGCTCCTCCTCCCTGCCGTAGATTTCAACGACAAGATTTTGAATGAGCCCCTCAAGCACTCTGACTTCTTCAATGTCAAGGAACTGTTTTCCGTGAGAAGCCTCTTCGATGCCCGAGTCCATCTGGGACACAAAGCTGGCTGTCGGCACAGGTAGGTGACACCCCCATCTGAGCCCGGGGCGGTTCCCAGGAGGAACCTGGGACCTGCTCTGGTTCTAGGGCCACTTTTGAACTGGCCTATGTCAGTTTTAGGTGATTACAGCCCCATCCTCCTCCACATGGGAATACAGAGCCCCACAGAGAAGCAGGAGTTTATTCCTCAGCTTGGCGGACGCTCTTGTGTGCCTTGGTGTGGCGCTCACAGCCCTTGATAGGGCAGGCCTGCTGGGGGTTGCAGGACTCCACGGGTTCAGAAATGGAAAGGCTGAGGGCAGAACCTGTAAGGTTGGTCCCCCCGGATCGGGCTGGGCCTTCTGGGCTGCGGGGAGGAGGAATGACTGGTCCTGTATTCTCACATGGTCATTTTGACTGCTGTGGGGGGAGGGGATGGGAGGGGCAGGTGGGAGGCCAGGGAGGAGGTTGGTGTGGGCGTTCAGGGTGAAGGTGGCGGGGCTTAAATCGCAGTAGCGGAAGAGCTGGAGCAGCAGGTGGACATGAGGCAGCAGGGCAGAGCCAGTGGGCCTTGGGCTGGGGTGGGAGGTGGCTGGGGCCGAAGGGATCAAACACCTGCTCTTCGGGTGGAGCCTGGTACTGGTTACTGAGATGGTGAAAACCAGGGGAGACCTGGGGGACATCACAAGCTTGGTTCCTACCAGGTATGAACCCTTTGCTGCCCCAGTGGAGAGGTCACACGGTTACCAGGAGGGATGGGCCTGGGCCCAGGGAGCCATCAGCATCGGGGGCTGGCAGGTGTTTCCAGAGCATCGGAAAAGGAGGTCCAAGGTGGAGCCCTGGGTGCTCCAGTGTTTGGAGTCAGTGAAGAGGGACAGCCGGGGGTAGGGGAGATGTGGTTCTCTGTTGATGCTGCTGAGAAGTGAATTCAAGGCTGTGACCTTGGCAAGATGGAGGTCGCCAGTGCCTTGATGGGCAGGGTTGCTTGAGAGGAAGGGACAGAACCCAGTGGGAGTAGACTGGAGGTGAGGACCTGGGAACCGCAAATGTGGATGACTCGCCTGTCACGCACCGAGAGGCGGGGGTGTCTCCCATGCCCCGCTTTTCTCAGCCCAGGCCAGCAGTGGTCCAGTGCTTTGGATCAGGGTTCCCCGCCCAGGCTTGGCCACTCCTGCCCTGATCCCTTAATGCTTTTGGCCCAGAGCACCCCGCTAAGTCCAACCCCAGAGGGGCCTCATCCGCAAAGCCTCGGGAAGAGGACAGTGACGGAGGCGGCTGCCCTGTGAGCTGCACGGGGCAGAATGTCCTTTTGGCGTCATGTTGGATGTCCACACATCCATATGGGGTCAGTTCTATTAGGATTCCTTCGGGAAGAGGTAGAGGGTAGGAGGGGTTAAGCCACGAGACGAGGCATGCAGAGGGGTGGCCTGGATGGGTCTGCACTGCTGTCCATGCACACGGGGAGCGTTGCAAATTGTGCTTCCCAGCCCATAGTGCCCCCACAGAGGAGCCCGGGAGTCCCTGGTGGGCGTCTGTGTTCCTGCAAGGAGCCAGTGGAGATGGCCCCGTGAACTCTCATCCCCCTTGCCTTGGTGGGGTCTCTGGCAGGTTTATGGAGCCGTACATCTTTGGGAGCCGCCTGGACCACAACATCATCGACCTGGAACAGACAGCCACGCACCTCCAGCTGGCCTTGAACTTCACCGCCCACATGGCCTACCGCAAGGGCATCATCTTGTTTATAAGCCGCAACCGGCAGTTCTCGTACCTGATTGAGAACATGGCCCGTGACTGTGGCGAGTACGCCCACACTCGCTACTTCAGGGGCGGCATGCTGACCAACGCGCGCCTCCTCTTTGGCCCCACGGTCCGCCTGCCGGACCTCATCATCTTCCTGCACACGCTCAACAACATCTTTGAGCCACACGTGGCCGTGAGAGACGCAGCCAAGATGAACATCCCCACAGTGGGCATCGTGGACACCAACTGCAACCCCTGCCTCATCACCTACCCTGTACCCGGCAATGACGACTCTCCGCTGGCTGTGCACCTCTACTGCAGGCTCTTCCAGACGGCCATCACCCGGGCCAAGGAGAAGCGGCAGCAGGTTGAGGCTCTCTATCGCCTGCAGGGCCAGAAGGAGCCCGGGGACCAGGGGCCAGCCCACCCTCCTGGGGCTGACATGAGCCATTCCCTGTGATGTTCACTCTCCTCCCAAAGCAAACCACAGCCAAGCCTGTCTGAGCTGGGAGTCCCCTTCCCCAGCCCTGGGTCAGCGGCATCCTCAGTCGTTGTTACTTACTCAGCTGATGTCACAGTGCAGACATCCACCGTTCCACCACAGAACCAGTGGCTGAGCGGACCAACGTTGCCATGTGCGTTTGCTCTGTGGGGAACAGAGCACAGAGGGTGAGCGACATGTGCAGAACGGCCCCTTGGCTGCAGTTAGGACCTCAGTGGCTGGTATGGCCAAGCTGCTAGAAGATGCTGCTGTCCCTGTGATCCCAGCAGCCCTCCCTTCACCGTGACCCCTGACCTTTGTCAGGAAGGTGCAGTTTTTCTTCTCAATCTAAATGCCTTTCAGGTGGGCCGCTTCCTTGGCTACCTGGTTCCAGGGGGCTGTTTTGTAATGAGATGCTGCTGGCAGGCCACTCAGAGGCTCCCAGCTGGGTTGGTGGGACAGCCAGGCCAGATGACCTGATTCCAGCAAAAATAAAACTCAGATTTGGGCAAAATGAGACTTGGAGTTTGGGGCTCTGTCTCGAGTGGGTTTGCTTTCATCCATGTGGTGTGGTTTTTCTTCAGGCACACACTGGGACCCCAGTGATGAGAGATGGGACGGGCACTGTGTGTGTGAGGCGCATGAATGAGGTCAGCAGAGGTGCCAGCTGCCACTAGAGGGCACCGTCTTCAGCAGTGGAGCTCGTGACAAGCCCACAGCCCGGCCAGCCTCATTCAGCAGAACAGGCTTGGTGTGGACCCAGTTTCAGGAAAGACGGGCACTTGCTGACAGGGACGCTTAACATCCCTCACCTGTGGGGATACAGCTGTGTTCCTGGAACAAGCTGCGGCCTCCTCCCAGCCCCATCCCGAGCTGCTTAGGACATAGGCCCCCCATGCACCTGACCACCCAAGGAGCCGTCTCTGGGCAGAGTCTGGGCAGCAGGGCCCTGTGGAGTCTGGTGCCCTGGGTAGGGTGAGGCCTGCCCTGCAGGAGCGGCACAGGGCAATGGGAGGCTGGAGTCCAGCGCCTATCCCTGTCCCTTCAGGGTTAGGCTGGTGAGGGGTTCATGGTAGGTGTCCCCAGGTTTGTCACAGGTTTGTGATCTGGTCGGGACAGGGAGCTGAGCTTCAGGTTGGTCTCTGGCCAGCATGGCTTTAATTTGCAAAGCCGAAGTCTGAAGATGCACGTGTATAAAGGCAGGTGAAGTGAGGGCCCCTCCAAGGCTCCCCCTAGAATCCCTCTCAGGGTGGGCAGGTGAGACACTCTGAGCTGGGTCTCCTGTCCCACCATGCTGGGGAGGCCAGCTGCGGGGAGCCAGGACCCTGGAGATGAGACAGGAGTACCAAACACTGGGGACTGACTGGGGGGCTTCCAGGAGGTGCCCCTGGAGCTGCGACTGATCCTTCCCTGGGAGAGGCCTTTGTAGCTTGGGTCCAGGCCTGGCCCTTCTCTGCTAAGCCATTAGTGAGGAC
|
Task1_train_13469
|
A variant found in Chromosome 9 affects KCNT1 (potassium sodium-activated channel subfamily T member 1). Please analyze its biological impact: is it benign or pathogenic, and what condition might it cause?
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Pathogenic; not provided
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TCCCATGTCTCCATCTGAGACCAGAGAGGGTCTTTCACACCCACCCCTATCATGTTCCAGAGGGGTCAGTAGATGCCTGTGCTGAGAGGGGTTCCGTGGGGGAAAACCAGGTCCACTGAGCCTCCATCTCCGTTCCCTCCCCACCAGGGCAGCGGGATAGCCGCTCTCTGGTGTCTTCCTGAGCGTCCTGCCTCACCCACTGCACCCTCCATCCCACCCTGGGCCTAGAGTGGGCGGCCCAGGAGGACCATGGTTTCAAGACTCCATCTGCCCTCGGCCCTGGCGGGGGTCAGCCAAAGGCCTTGGTGGCTAAGACTGTCCTGACATGGGAGTGAGGGTCAAGGCAGACCCCAGACACACACCTGGCTTTGTGTGGTACCTGCCCGCGAGGCCTGTGGGGTCAGGCCCCAGCCCCAGCCCCGGCCTGCTCCAGAGCTCCTTCCCTTTCCTGACTCCCAGGTCATCGTGGCCATAATAAGCTTCCTGGAGACGATGCTTCTCATCTACCTCAGCTACAAAGTGAGTGCCTGCCCGGGATGGCACCTCACAGGGGGTCCCCACCCTCCCCACCCTCCCCAGCCTCCCCCACCTCCCCCACCCTCTCCTATTTCCCCACACTTCCCAGCCTCATCCACTGACCTCCAGGGTGGGCTCCTCGCCCTCTTCCCCACCCTGCCCCTCCCCTGCTGGGCCCCACCCCCACCCTCCATCGCCCCCGCTGATACCCCCCGTTTGGCCCCAGGGCAACATCTGGGAGCAGATCTTCCGCGTGTCCTTCGTCCTGGAGATGATCAACACTCTGCCCTTCATCATCACGGTGGGTGAGCCCCAGCTGCCAGGAGTGCGGGCCCTGGAGCCCCAGCCCTGACCTGTCCCCTTCACAGATCTTCTGGCCGCCGCTGCGGAACCTGTTCATCCCCGTCTTTCTGAACTGCTGGCTGGCCAAGCACGCGCTGGAAAACATGATTGTAAGCCGGGGCGGGGGGTGCAGCTGGGACTTGGGGGGGCCACCCTCAGCCTCACCGGCCCTGGAAGACACTGTGCGACGTAGCCTGCCACGCCCCGGCCCTGGCATGACCTGTAGAGGACCGGGAAGCCAGGGCAGCAGAAACTCTGTCTCTGCTCCTGGAAAACATCCAAGCCAAGCCCCGAATGCCCTCCTTCCAGGAAGAAACTCAATCCCAGAGCTTTTCCTAAGCCTGGAAATGAAATGGCTGGCAGGAGGAGGAGGGACAAAGTGAAGGGTGTGACAAACCCAGGCCACGAGGACCAGGGCCACAAACACCAGGCCACACGCAAACTGGGGCCACGGGGCCACAGGCAGGCCCTGTGCTGAGCATCTCAGGAAACCTGGGCCACGGGGCCACAGGCAGGCCCTGCTCTGAGTGTCTCAACATGGTCCCTGTCATGTGAATGGCAGCAGTCAGTTCCCTAGGCGCCCACCCTCTCCAAGCCAGACCCCTTGACTCACAGCCCCCATTCCTGCCCCAGTGGTAAATCAGCGTTACCATGCTGGGTCCAAGCCTTGCACACTAACCAGCCCTCTGACCTGAGACTTAAGCCTCATCCCCGGGGATGTAGGCAAGATGGGGACCCGTCCTGAGAGAGGACAGCAGAGGGGGTGCCCTACCCAGGTGCAGGCTGCCCGTGGGCCTCAGCGGAGACGCAGGTGTGGCCAGGCGTGGGCTGCCCCTTGGGCCTCAGCCGAGACACAGGTGTGGCCGTGGGCTGCCCCGTGGGCCTCAGCCGAGACACAGGTGTGGCCAGGTGCAGGCTGCCCCGTGGGCCTCAGCCGAGACGCAGGTGTGGCCAGGTGCAGGCTGCCCCATGGGCCTCAGCCGAGACACAGGTGTGGCCAGGTACAGGCTGCCCCGTGGGCCTCAGCCGAGACGCAGGTGTGGCCGGGCCGTCTGCTTTCCACTGTCCTTCTAGTCTCTATTCATTGGCTCCTGGCGGGGTCCACAGTCCCTGCCCGCTGACAGCCACCACTCCTTCCACAGAATGACTTCCACCGTGCCATCCTGCGGACACAGTCAGCCATGTTCAACCAGGTCCTCATCCTCTTCTGCACCCTGCTGTGCCTCGTTTTCACGGGGTGAGTGCCGGCCGTCAGTGTGAGCACCCCAGGACGTTGGGAGGGCCCGAGAGGCAAGCAGGGCCGGGCGAGGGGATACAGATGCCTATGTCCAAGCTATCGGGGCAGAAAAGGCCACAGTGCCTGGGCTGCGGGTGTCGGGCCACCAAGCTGGGACTGAGGTCAGGAGGCAGCTCCAAGCCCACGTCCCCAGTACACGAGCAGCCCTGCAGCCCGACTCCTCCAAGGACAGAGATACCCAGATCTGGCTTCCTGGTCTATGCCATGGACGTAGAGAAGGGGACTGGCCCCTAGGCCAGGTGGGGTCTCTTGGCTGAGGCCCAGCTGAAAGCAGGGTCTGGAGGCAGCCAGGGTAAAGGTGGGGGTGCCCAGAGCTGCGAGGGCCTCCAGCCCACCCAGGCATGCCCACTGTGCCCACCTGCCTGTGTCCTCGTGGAGGGCTCCATGTTGCTGCTCTGCCTTGGGTCCCAGCGAGGCCTGGTCACCACTTCCCGTCCCCAGGCAGGGATGTCAGGCAAGCACTGTGCCCTGGGGGAGGGAGAGTGCCCTGCGTTTCCCGCCTCCCTTCCCCCCTGCCCCTCATGACAGACTGACAGACACAGAGCTGAGTGGGCAGATTGGGGCATCCATGAGGATAGCATCTGGGACCTGGCGGCGACCCCAGCCCTGCCCATTAGACCTCCCAGCCTCAGGCCTGGGCGCTTGTCTGGCTGTGCCGGGCAGAGGCCTGAGTGTGGTGGGTAAAGGGGCAAGGCTCTGAGATGGGGGTAGAGGGCCAGACCCCAGGCCCACCCCTGTGTCACCCAAGCCCACGCTGATGACACAGCCCTGCATCCCCTGCTCCCAGAGAATGTTCCAGGGACCTAGGAGAGAGCCACCCGGCAGGCAGGGAGGCTCCGGGGAATTCGCCGTGAACAGAGGCCGCCATGCTGTGGCCAAGCTGCATTGTCAGCCAGCGTCAGGCAGGAGGTGGCTCCGGCAGAGCTTGGGGACAGATGGGCAGGGCTGAGGGCCTGATGCCACCCAGCTGTCAGGAGGGCGGGGCTCGCCTGGTGATGCACAGCTCAGTCTCCTGGGCAGTGAGGGTCCCGTGGGCAGGCAGGATCTCTGAGGGGCCACGGCCCCCCAGCTCCTGGGCCCCAGGCCGCCCCTCACTGCCAGGGGTTGCAGGACCTGCGGCATCCAGCACCTGGAGCGGGCGGGCGAGAACCTGTCCCTCCTGACCTCCTTCTACTTCTGCATCGTCACCTTCTCCACCGTGGGCTACGGTGACGTCACGCCCAAGATCTGGCCATCGCAGCTGCTGGTGGTCATCATGATCTGCGTGGCCCTCGTGGTGCTCCCACTGCAGGTGGGTCCTCTGGGCACCAGCCCTGGGTGGCACCAGCAAAGGGACAGGCGGGTGCCAGTAGAGGGAGGGTGCCACTGAGGCTGTGGCACAGTGCGGGGGCCACTCCCAGGAGGGGACAGTGAGGCCAGGCGGGTGGTGCCTGCTCCGTTGCACGCCCCCACTGAGGGTCTACGGCGGGTCCGGTGGTGCTCAGCATGGTGGGTAATGATGGAGTCCCGTGAGCTGGCCTCTTCCTTCTGGGGAGATGGTGGGTCTCCAGTGCCAGGGTGACCTGCCCCTCCCAGGCCCAGGCAGAGTGCAGGGAAGGGTCAAGGTGGACAGCCGGCCCATTTCCCATCCACAGCCAGGTGCAGCAGCAGCTGCCAGGCCCACAGGGGGCACACCCCCCCGGCCACCCCAGTGGCTTCCCCGTCACCACTGCTGTGGCCCACTGCCCACTGAGCAGAGGAGGGGACGGGGCAAGACCTCAGTGGGAAAGGTGGAGGCCTGGAGAGGGCAGCTGCCTCAGGGTGTGAAGTGCTTGGGCCTGGACTGCCTCCGACACCTCCTCCAGGCACCCCAGCCCACCCTGGAGGGACCCTGCTATTGGGGAGATGGGAGAAGGAGGGGACCCCTGTGGGTGGTGGAACATTTTCCAGGAGGCTGGGTAG
|
TCCCATGTCTCCATCTGAGACCAGAGAGGGTCTTTCACACCCACCCCTATCATGTTCCAGAGGGGTCAGTAGATGCCTGTGCTGAGAGGGGTTCCGTGGGGGAAAACCAGGTCCACTGAGCCTCCATCTCCGTTCCCTCCCCACCAGGGCAGCGGGATAGCCGCTCTCTGGTGTCTTCCTGAGCGTCCTGCCTCACCCACTGCACCCTCCATCCCACCCTGGGCCTAGAGTGGGCGGCCCAGGAGGACCATGGTTTCAAGACTCCATCTGCCCTCGGCCCTGGCGGGGGTCAGCCAAAGGCCTTGGTGGCTAAGACTGTCCTGACATGGGAGTGAGGGTCAAGGCAGACCCCAGACACACACCTGGCTTTGTGTGGTACCTGCCCGCGAGGCCTGTGGGGTCAGGCCCCAGCCCCAGCCCCGGCCTGCTCCAGAGCTCCTTCCCTTTCCTGACTCCCAGGTCATCGTGGCCATAATAAGCTTCCTGGAGACGATGCTTCTCATCTACCTCAGCTACAAAGTGAGTGCCTGCCCGGGATGGCACCTCACAGGGGGTCCCCACCCTCCCCACCCTCCCCAGCCTCCCCCACCTCCCCCACCCTCTCCTATTTCCCCACACTTCCCAGCCTCATCCACTGACCTCCAGGGTGGGCTCCTCGCCCTCTTCCCCACCCTGCCCCTCCCCTGCTGGGCCCCACCCCCACCCTCCATCGCCCCCGCTGATACCCCCCGTTTGGCCCCAGGGCAACATCTGGGAGCAGATCTTCCGCGTGTCCTTCGTCCTGGAGATGATCAACACTCTGCCCTTCATCATCACGGTGGGTGAGCCCCAGCTGCCAGGAGTGCGGGCCCTGGAGCCCCAGCCCTGACCTGTCCCCTTCACAGATCTTCTGGCCGCCGCTGCGGAACCTGTTCATCCCCGTCTTTCTGAACTGCTGGCTGGCCAAGCACGCGCTGGAAAACATGATTGTAAGCCGGGGCGGGGGGTGCAGCTGGGACTTGGGGGGGCCACCCTCAGCCTCACCGGCCCTGGAAGACACTGTGCGACGTAGCCTGCCACGCCCCGGCCCTGGCATGACCTGTAGAGGACCGGGAAGCCAGGGCAGCAGAAACTCTGTCTCTGCTCCTGGAAAACATCCAAGCCAAGCCCCGAATGCCCTCCTTCCAGGAAGAAACTCAATCCCAGAGCTTTTCCTAAGCCTGGAAATGAAATGGCTGGCAGGAGGAGGAGGGACAAAGTGAAGGGTGTGACAAACCCAGGCCACGAGGACCAGGGCCACAAACACCAGGCCACACGCAAACTGGGGCCACGGGGCCACAGGCAGGCCCTGTGCTGAGCATCTCAGGAAACCTGGGCCACGGGGCCACAGGCAGGCCCTGCTCTGAGTGTCTCAACATGGTCCCTGTCATGTGAATGGCAGCAGTCAGTTCCCTAGGCGCCCACCCTCTCCAAGCCAGACCCCTTGACTCACAGCCCCCATTCCTGCCCCAGTGGTAAATCAGCGTTACCATGCTGGGTCCAAGCCTTGCACACTAACCAGCCCTCTGACCTGAGACTTAAGCCTCATCCCCGGGGATGTAGGCAAGATGGGGACCCGTCCTGAGAGAGGACAGCAGAGGGGGTGCCCTACCCAGGTGCAGGCTGCCCGTGGGCCTCAGCGGAGACGCAGGTGTGGCCAGGCGTGGGCTGCCCCTTGGGCCTCAGCCGAGACACAGGTGTGGCCGTGGGCTGCCCCGTGGGCCTCAGCCGAGACACAGGTGTGGCCAGGTGCAGGCTGCCCCGTGGGCCTCAGCCGAGACGCAGGTGTGGCCAGGTGCAGGCTGCCCCATGGGCCTCAGCCGAGACACAGGTGTGGCCAGGTACAGGCTGCCCCGTGGGCCTCAGCCGAGACGCAGGTGTGGCCGGGCCGTCTGCTTTCCACTGTCCTTCTAGTCTCTATTCATTGGCTCCTGGCGGGGTCCACAGTCCCTGCCCGCTGACAGCCACCACTCCTTCCACAGAATGACTTCCACCGTGCCATCCTGCGGACACAGTCAGCCATGTTCAACGAGGTCCTCATCCTCTTCTGCACCCTGCTGTGCCTCGTTTTCACGGGGTGAGTGCCGGCCGTCAGTGTGAGCACCCCAGGACGTTGGGAGGGCCCGAGAGGCAAGCAGGGCCGGGCGAGGGGATACAGATGCCTATGTCCAAGCTATCGGGGCAGAAAAGGCCACAGTGCCTGGGCTGCGGGTGTCGGGCCACCAAGCTGGGACTGAGGTCAGGAGGCAGCTCCAAGCCCACGTCCCCAGTACACGAGCAGCCCTGCAGCCCGACTCCTCCAAGGACAGAGATACCCAGATCTGGCTTCCTGGTCTATGCCATGGACGTAGAGAAGGGGACTGGCCCCTAGGCCAGGTGGGGTCTCTTGGCTGAGGCCCAGCTGAAAGCAGGGTCTGGAGGCAGCCAGGGTAAAGGTGGGGGTGCCCAGAGCTGCGAGGGCCTCCAGCCCACCCAGGCATGCCCACTGTGCCCACCTGCCTGTGTCCTCGTGGAGGGCTCCATGTTGCTGCTCTGCCTTGGGTCCCAGCGAGGCCTGGTCACCACTTCCCGTCCCCAGGCAGGGATGTCAGGCAAGCACTGTGCCCTGGGGGAGGGAGAGTGCCCTGCGTTTCCCGCCTCCCTTCCCCCCTGCCCCTCATGACAGACTGACAGACACAGAGCTGAGTGGGCAGATTGGGGCATCCATGAGGATAGCATCTGGGACCTGGCGGCGACCCCAGCCCTGCCCATTAGACCTCCCAGCCTCAGGCCTGGGCGCTTGTCTGGCTGTGCCGGGCAGAGGCCTGAGTGTGGTGGGTAAAGGGGCAAGGCTCTGAGATGGGGGTAGAGGGCCAGACCCCAGGCCCACCCCTGTGTCACCCAAGCCCACGCTGATGACACAGCCCTGCATCCCCTGCTCCCAGAGAATGTTCCAGGGACCTAGGAGAGAGCCACCCGGCAGGCAGGGAGGCTCCGGGGAATTCGCCGTGAACAGAGGCCGCCATGCTGTGGCCAAGCTGCATTGTCAGCCAGCGTCAGGCAGGAGGTGGCTCCGGCAGAGCTTGGGGACAGATGGGCAGGGCTGAGGGCCTGATGCCACCCAGCTGTCAGGAGGGCGGGGCTCGCCTGGTGATGCACAGCTCAGTCTCCTGGGCAGTGAGGGTCCCGTGGGCAGGCAGGATCTCTGAGGGGCCACGGCCCCCCAGCTCCTGGGCCCCAGGCCGCCCCTCACTGCCAGGGGTTGCAGGACCTGCGGCATCCAGCACCTGGAGCGGGCGGGCGAGAACCTGTCCCTCCTGACCTCCTTCTACTTCTGCATCGTCACCTTCTCCACCGTGGGCTACGGTGACGTCACGCCCAAGATCTGGCCATCGCAGCTGCTGGTGGTCATCATGATCTGCGTGGCCCTCGTGGTGCTCCCACTGCAGGTGGGTCCTCTGGGCACCAGCCCTGGGTGGCACCAGCAAAGGGACAGGCGGGTGCCAGTAGAGGGAGGGTGCCACTGAGGCTGTGGCACAGTGCGGGGGCCACTCCCAGGAGGGGACAGTGAGGCCAGGCGGGTGGTGCCTGCTCCGTTGCACGCCCCCACTGAGGGTCTACGGCGGGTCCGGTGGTGCTCAGCATGGTGGGTAATGATGGAGTCCCGTGAGCTGGCCTCTTCCTTCTGGGGAGATGGTGGGTCTCCAGTGCCAGGGTGACCTGCCCCTCCCAGGCCCAGGCAGAGTGCAGGGAAGGGTCAAGGTGGACAGCCGGCCCATTTCCCATCCACAGCCAGGTGCAGCAGCAGCTGCCAGGCCCACAGGGGGCACACCCCCCCGGCCACCCCAGTGGCTTCCCCGTCACCACTGCTGTGGCCCACTGCCCACTGAGCAGAGGAGGGGACGGGGCAAGACCTCAGTGGGAAAGGTGGAGGCCTGGAGAGGGCAGCTGCCTCAGGGTGTGAAGTGCTTGGGCCTGGACTGCCTCCGACACCTCCTCCAGGCACCCCAGCCCACCCTGGAGGGACCCTGCTATTGGGGAGATGGGAGAAGGAGGGGACCCCTGTGGGTGGTGGAACATTTTCCAGGAGGCTGGGTAG
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Task1_train_13470
|
Gene KCNT1 (potassium sodium-activated channel subfamily T member 1) on Chromosome 9 is impacted by this variant. Evaluate whether it is clinically benign or pathogenic and name the disorder if relevant.
|
Pathogenic; not provided
|
CATGTCTCCATCTGAGACCAGAGAGGGTCTTTCACACCCACCCCTATCATGTTCCAGAGGGGTCAGTAGATGCCTGTGCTGAGAGGGGTTCCGTGGGGGAAAACCAGGTCCACTGAGCCTCCATCTCCGTTCCCTCCCCACCAGGGCAGCGGGATAGCCGCTCTCTGGTGTCTTCCTGAGCGTCCTGCCTCACCCACTGCACCCTCCATCCCACCCTGGGCCTAGAGTGGGCGGCCCAGGAGGACCATGGTTTCAAGACTCCATCTGCCCTCGGCCCTGGCGGGGGTCAGCCAAAGGCCTTGGTGGCTAAGACTGTCCTGACATGGGAGTGAGGGTCAAGGCAGACCCCAGACACACACCTGGCTTTGTGTGGTACCTGCCCGCGAGGCCTGTGGGGTCAGGCCCCAGCCCCAGCCCCGGCCTGCTCCAGAGCTCCTTCCCTTTCCTGACTCCCAGGTCATCGTGGCCATAATAAGCTTCCTGGAGACGATGCTTCTCATCTACCTCAGCTACAAAGTGAGTGCCTGCCCGGGATGGCACCTCACAGGGGGTCCCCACCCTCCCCACCCTCCCCAGCCTCCCCCACCTCCCCCACCCTCTCCTATTTCCCCACACTTCCCAGCCTCATCCACTGACCTCCAGGGTGGGCTCCTCGCCCTCTTCCCCACCCTGCCCCTCCCCTGCTGGGCCCCACCCCCACCCTCCATCGCCCCCGCTGATACCCCCCGTTTGGCCCCAGGGCAACATCTGGGAGCAGATCTTCCGCGTGTCCTTCGTCCTGGAGATGATCAACACTCTGCCCTTCATCATCACGGTGGGTGAGCCCCAGCTGCCAGGAGTGCGGGCCCTGGAGCCCCAGCCCTGACCTGTCCCCTTCACAGATCTTCTGGCCGCCGCTGCGGAACCTGTTCATCCCCGTCTTTCTGAACTGCTGGCTGGCCAAGCACGCGCTGGAAAACATGATTGTAAGCCGGGGCGGGGGGTGCAGCTGGGACTTGGGGGGGCCACCCTCAGCCTCACCGGCCCTGGAAGACACTGTGCGACGTAGCCTGCCACGCCCCGGCCCTGGCATGACCTGTAGAGGACCGGGAAGCCAGGGCAGCAGAAACTCTGTCTCTGCTCCTGGAAAACATCCAAGCCAAGCCCCGAATGCCCTCCTTCCAGGAAGAAACTCAATCCCAGAGCTTTTCCTAAGCCTGGAAATGAAATGGCTGGCAGGAGGAGGAGGGACAAAGTGAAGGGTGTGACAAACCCAGGCCACGAGGACCAGGGCCACAAACACCAGGCCACACGCAAACTGGGGCCACGGGGCCACAGGCAGGCCCTGTGCTGAGCATCTCAGGAAACCTGGGCCACGGGGCCACAGGCAGGCCCTGCTCTGAGTGTCTCAACATGGTCCCTGTCATGTGAATGGCAGCAGTCAGTTCCCTAGGCGCCCACCCTCTCCAAGCCAGACCCCTTGACTCACAGCCCCCATTCCTGCCCCAGTGGTAAATCAGCGTTACCATGCTGGGTCCAAGCCTTGCACACTAACCAGCCCTCTGACCTGAGACTTAAGCCTCATCCCCGGGGATGTAGGCAAGATGGGGACCCGTCCTGAGAGAGGACAGCAGAGGGGGTGCCCTACCCAGGTGCAGGCTGCCCGTGGGCCTCAGCGGAGACGCAGGTGTGGCCAGGCGTGGGCTGCCCCTTGGGCCTCAGCCGAGACACAGGTGTGGCCGTGGGCTGCCCCGTGGGCCTCAGCCGAGACACAGGTGTGGCCAGGTGCAGGCTGCCCCGTGGGCCTCAGCCGAGACGCAGGTGTGGCCAGGTGCAGGCTGCCCCATGGGCCTCAGCCGAGACACAGGTGTGGCCAGGTACAGGCTGCCCCGTGGGCCTCAGCCGAGACGCAGGTGTGGCCGGGCCGTCTGCTTTCCACTGTCCTTCTAGTCTCTATTCATTGGCTCCTGGCGGGGTCCACAGTCCCTGCCCGCTGACAGCCACCACTCCTTCCACAGAATGACTTCCACCGTGCCATCCTGCGGACACAGTCAGCCATGTTCAACCAGGTCCTCATCCTCTTCTGCACCCTGCTGTGCCTCGTTTTCACGGGGTGAGTGCCGGCCGTCAGTGTGAGCACCCCAGGACGTTGGGAGGGCCCGAGAGGCAAGCAGGGCCGGGCGAGGGGATACAGATGCCTATGTCCAAGCTATCGGGGCAGAAAAGGCCACAGTGCCTGGGCTGCGGGTGTCGGGCCACCAAGCTGGGACTGAGGTCAGGAGGCAGCTCCAAGCCCACGTCCCCAGTACACGAGCAGCCCTGCAGCCCGACTCCTCCAAGGACAGAGATACCCAGATCTGGCTTCCTGGTCTATGCCATGGACGTAGAGAAGGGGACTGGCCCCTAGGCCAGGTGGGGTCTCTTGGCTGAGGCCCAGCTGAAAGCAGGGTCTGGAGGCAGCCAGGGTAAAGGTGGGGGTGCCCAGAGCTGCGAGGGCCTCCAGCCCACCCAGGCATGCCCACTGTGCCCACCTGCCTGTGTCCTCGTGGAGGGCTCCATGTTGCTGCTCTGCCTTGGGTCCCAGCGAGGCCTGGTCACCACTTCCCGTCCCCAGGCAGGGATGTCAGGCAAGCACTGTGCCCTGGGGGAGGGAGAGTGCCCTGCGTTTCCCGCCTCCCTTCCCCCCTGCCCCTCATGACAGACTGACAGACACAGAGCTGAGTGGGCAGATTGGGGCATCCATGAGGATAGCATCTGGGACCTGGCGGCGACCCCAGCCCTGCCCATTAGACCTCCCAGCCTCAGGCCTGGGCGCTTGTCTGGCTGTGCCGGGCAGAGGCCTGAGTGTGGTGGGTAAAGGGGCAAGGCTCTGAGATGGGGGTAGAGGGCCAGACCCCAGGCCCACCCCTGTGTCACCCAAGCCCACGCTGATGACACAGCCCTGCATCCCCTGCTCCCAGAGAATGTTCCAGGGACCTAGGAGAGAGCCACCCGGCAGGCAGGGAGGCTCCGGGGAATTCGCCGTGAACAGAGGCCGCCATGCTGTGGCCAAGCTGCATTGTCAGCCAGCGTCAGGCAGGAGGTGGCTCCGGCAGAGCTTGGGGACAGATGGGCAGGGCTGAGGGCCTGATGCCACCCAGCTGTCAGGAGGGCGGGGCTCGCCTGGTGATGCACAGCTCAGTCTCCTGGGCAGTGAGGGTCCCGTGGGCAGGCAGGATCTCTGAGGGGCCACGGCCCCCCAGCTCCTGGGCCCCAGGCCGCCCCTCACTGCCAGGGGTTGCAGGACCTGCGGCATCCAGCACCTGGAGCGGGCGGGCGAGAACCTGTCCCTCCTGACCTCCTTCTACTTCTGCATCGTCACCTTCTCCACCGTGGGCTACGGTGACGTCACGCCCAAGATCTGGCCATCGCAGCTGCTGGTGGTCATCATGATCTGCGTGGCCCTCGTGGTGCTCCCACTGCAGGTGGGTCCTCTGGGCACCAGCCCTGGGTGGCACCAGCAAAGGGACAGGCGGGTGCCAGTAGAGGGAGGGTGCCACTGAGGCTGTGGCACAGTGCGGGGGCCACTCCCAGGAGGGGACAGTGAGGCCAGGCGGGTGGTGCCTGCTCCGTTGCACGCCCCCACTGAGGGTCTACGGCGGGTCCGGTGGTGCTCAGCATGGTGGGTAATGATGGAGTCCCGTGAGCTGGCCTCTTCCTTCTGGGGAGATGGTGGGTCTCCAGTGCCAGGGTGACCTGCCCCTCCCAGGCCCAGGCAGAGTGCAGGGAAGGGTCAAGGTGGACAGCCGGCCCATTTCCCATCCACAGCCAGGTGCAGCAGCAGCTGCCAGGCCCACAGGGGGCACACCCCCCCGGCCACCCCAGTGGCTTCCCCGTCACCACTGCTGTGGCCCACTGCCCACTGAGCAGAGGAGGGGACGGGGCAAGACCTCAGTGGGAAAGGTGGAGGCCTGGAGAGGGCAGCTGCCTCAGGGTGTGAAGTGCTTGGGCCTGGACTGCCTCCGACACCTCCTCCAGGCACCCCAGCCCACCCTGGAGGGACCCTGCTATTGGGGAGATGGGAGAAGGAGGGGACCCCTGTGGGTGGTGGAACATTTTCCAGGAGGCTGGGTAGGAG
|
CATGTCTCCATCTGAGACCAGAGAGGGTCTTTCACACCCACCCCTATCATGTTCCAGAGGGGTCAGTAGATGCCTGTGCTGAGAGGGGTTCCGTGGGGGAAAACCAGGTCCACTGAGCCTCCATCTCCGTTCCCTCCCCACCAGGGCAGCGGGATAGCCGCTCTCTGGTGTCTTCCTGAGCGTCCTGCCTCACCCACTGCACCCTCCATCCCACCCTGGGCCTAGAGTGGGCGGCCCAGGAGGACCATGGTTTCAAGACTCCATCTGCCCTCGGCCCTGGCGGGGGTCAGCCAAAGGCCTTGGTGGCTAAGACTGTCCTGACATGGGAGTGAGGGTCAAGGCAGACCCCAGACACACACCTGGCTTTGTGTGGTACCTGCCCGCGAGGCCTGTGGGGTCAGGCCCCAGCCCCAGCCCCGGCCTGCTCCAGAGCTCCTTCCCTTTCCTGACTCCCAGGTCATCGTGGCCATAATAAGCTTCCTGGAGACGATGCTTCTCATCTACCTCAGCTACAAAGTGAGTGCCTGCCCGGGATGGCACCTCACAGGGGGTCCCCACCCTCCCCACCCTCCCCAGCCTCCCCCACCTCCCCCACCCTCTCCTATTTCCCCACACTTCCCAGCCTCATCCACTGACCTCCAGGGTGGGCTCCTCGCCCTCTTCCCCACCCTGCCCCTCCCCTGCTGGGCCCCACCCCCACCCTCCATCGCCCCCGCTGATACCCCCCGTTTGGCCCCAGGGCAACATCTGGGAGCAGATCTTCCGCGTGTCCTTCGTCCTGGAGATGATCAACACTCTGCCCTTCATCATCACGGTGGGTGAGCCCCAGCTGCCAGGAGTGCGGGCCCTGGAGCCCCAGCCCTGACCTGTCCCCTTCACAGATCTTCTGGCCGCCGCTGCGGAACCTGTTCATCCCCGTCTTTCTGAACTGCTGGCTGGCCAAGCACGCGCTGGAAAACATGATTGTAAGCCGGGGCGGGGGGTGCAGCTGGGACTTGGGGGGGCCACCCTCAGCCTCACCGGCCCTGGAAGACACTGTGCGACGTAGCCTGCCACGCCCCGGCCCTGGCATGACCTGTAGAGGACCGGGAAGCCAGGGCAGCAGAAACTCTGTCTCTGCTCCTGGAAAACATCCAAGCCAAGCCCCGAATGCCCTCCTTCCAGGAAGAAACTCAATCCCAGAGCTTTTCCTAAGCCTGGAAATGAAATGGCTGGCAGGAGGAGGAGGGACAAAGTGAAGGGTGTGACAAACCCAGGCCACGAGGACCAGGGCCACAAACACCAGGCCACACGCAAACTGGGGCCACGGGGCCACAGGCAGGCCCTGTGCTGAGCATCTCAGGAAACCTGGGCCACGGGGCCACAGGCAGGCCCTGCTCTGAGTGTCTCAACATGGTCCCTGTCATGTGAATGGCAGCAGTCAGTTCCCTAGGCGCCCACCCTCTCCAAGCCAGACCCCTTGACTCACAGCCCCCATTCCTGCCCCAGTGGTAAATCAGCGTTACCATGCTGGGTCCAAGCCTTGCACACTAACCAGCCCTCTGACCTGAGACTTAAGCCTCATCCCCGGGGATGTAGGCAAGATGGGGACCCGTCCTGAGAGAGGACAGCAGAGGGGGTGCCCTACCCAGGTGCAGGCTGCCCGTGGGCCTCAGCGGAGACGCAGGTGTGGCCAGGCGTGGGCTGCCCCTTGGGCCTCAGCCGAGACACAGGTGTGGCCGTGGGCTGCCCCGTGGGCCTCAGCCGAGACACAGGTGTGGCCAGGTGCAGGCTGCCCCGTGGGCCTCAGCCGAGACGCAGGTGTGGCCAGGTGCAGGCTGCCCCATGGGCCTCAGCCGAGACACAGGTGTGGCCAGGTACAGGCTGCCCCGTGGGCCTCAGCCGAGACGCAGGTGTGGCCGGGCCGTCTGCTTTCCACTGTCCTTCTAGTCTCTATTCATTGGCTCCTGGCGGGGTCCACAGTCCCTGCCCGCTGACAGCCACCACTCCTTCCACAGAATGACTTCCACCGTGCCATCCTGCGGACACAGTCAGCCATGTTCAACCAGTTCCTCATCCTCTTCTGCACCCTGCTGTGCCTCGTTTTCACGGGGTGAGTGCCGGCCGTCAGTGTGAGCACCCCAGGACGTTGGGAGGGCCCGAGAGGCAAGCAGGGCCGGGCGAGGGGATACAGATGCCTATGTCCAAGCTATCGGGGCAGAAAAGGCCACAGTGCCTGGGCTGCGGGTGTCGGGCCACCAAGCTGGGACTGAGGTCAGGAGGCAGCTCCAAGCCCACGTCCCCAGTACACGAGCAGCCCTGCAGCCCGACTCCTCCAAGGACAGAGATACCCAGATCTGGCTTCCTGGTCTATGCCATGGACGTAGAGAAGGGGACTGGCCCCTAGGCCAGGTGGGGTCTCTTGGCTGAGGCCCAGCTGAAAGCAGGGTCTGGAGGCAGCCAGGGTAAAGGTGGGGGTGCCCAGAGCTGCGAGGGCCTCCAGCCCACCCAGGCATGCCCACTGTGCCCACCTGCCTGTGTCCTCGTGGAGGGCTCCATGTTGCTGCTCTGCCTTGGGTCCCAGCGAGGCCTGGTCACCACTTCCCGTCCCCAGGCAGGGATGTCAGGCAAGCACTGTGCCCTGGGGGAGGGAGAGTGCCCTGCGTTTCCCGCCTCCCTTCCCCCCTGCCCCTCATGACAGACTGACAGACACAGAGCTGAGTGGGCAGATTGGGGCATCCATGAGGATAGCATCTGGGACCTGGCGGCGACCCCAGCCCTGCCCATTAGACCTCCCAGCCTCAGGCCTGGGCGCTTGTCTGGCTGTGCCGGGCAGAGGCCTGAGTGTGGTGGGTAAAGGGGCAAGGCTCTGAGATGGGGGTAGAGGGCCAGACCCCAGGCCCACCCCTGTGTCACCCAAGCCCACGCTGATGACACAGCCCTGCATCCCCTGCTCCCAGAGAATGTTCCAGGGACCTAGGAGAGAGCCACCCGGCAGGCAGGGAGGCTCCGGGGAATTCGCCGTGAACAGAGGCCGCCATGCTGTGGCCAAGCTGCATTGTCAGCCAGCGTCAGGCAGGAGGTGGCTCCGGCAGAGCTTGGGGACAGATGGGCAGGGCTGAGGGCCTGATGCCACCCAGCTGTCAGGAGGGCGGGGCTCGCCTGGTGATGCACAGCTCAGTCTCCTGGGCAGTGAGGGTCCCGTGGGCAGGCAGGATCTCTGAGGGGCCACGGCCCCCCAGCTCCTGGGCCCCAGGCCGCCCCTCACTGCCAGGGGTTGCAGGACCTGCGGCATCCAGCACCTGGAGCGGGCGGGCGAGAACCTGTCCCTCCTGACCTCCTTCTACTTCTGCATCGTCACCTTCTCCACCGTGGGCTACGGTGACGTCACGCCCAAGATCTGGCCATCGCAGCTGCTGGTGGTCATCATGATCTGCGTGGCCCTCGTGGTGCTCCCACTGCAGGTGGGTCCTCTGGGCACCAGCCCTGGGTGGCACCAGCAAAGGGACAGGCGGGTGCCAGTAGAGGGAGGGTGCCACTGAGGCTGTGGCACAGTGCGGGGGCCACTCCCAGGAGGGGACAGTGAGGCCAGGCGGGTGGTGCCTGCTCCGTTGCACGCCCCCACTGAGGGTCTACGGCGGGTCCGGTGGTGCTCAGCATGGTGGGTAATGATGGAGTCCCGTGAGCTGGCCTCTTCCTTCTGGGGAGATGGTGGGTCTCCAGTGCCAGGGTGACCTGCCCCTCCCAGGCCCAGGCAGAGTGCAGGGAAGGGTCAAGGTGGACAGCCGGCCCATTTCCCATCCACAGCCAGGTGCAGCAGCAGCTGCCAGGCCCACAGGGGGCACACCCCCCCGGCCACCCCAGTGGCTTCCCCGTCACCACTGCTGTGGCCCACTGCCCACTGAGCAGAGGAGGGGACGGGGCAAGACCTCAGTGGGAAAGGTGGAGGCCTGGAGAGGGCAGCTGCCTCAGGGTGTGAAGTGCTTGGGCCTGGACTGCCTCCGACACCTCCTCCAGGCACCCCAGCCCACCCTGGAGGGACCCTGCTATTGGGGAGATGGGAGAAGGAGGGGACCCCTGTGGGTGGTGGAACATTTTCCAGGAGGCTGGGTAGGAG
|
Task1_train_13471
|
This variant impacts the gene KCNT1 (potassium sodium-activated channel subfamily T member 1) on Chromosome 9. Is the change likely to result in a pathogenic outcome?
|
Pathogenic; Developmental and epileptic encephalopathy, 14
|
GAGGAGGGACAAAGTGAAGGGTGTGACAAACCCAGGCCACGAGGACCAGGGCCACAAACACCAGGCCACACGCAAACTGGGGCCACGGGGCCACAGGCAGGCCCTGTGCTGAGCATCTCAGGAAACCTGGGCCACGGGGCCACAGGCAGGCCCTGCTCTGAGTGTCTCAACATGGTCCCTGTCATGTGAATGGCAGCAGTCAGTTCCCTAGGCGCCCACCCTCTCCAAGCCAGACCCCTTGACTCACAGCCCCCATTCCTGCCCCAGTGGTAAATCAGCGTTACCATGCTGGGTCCAAGCCTTGCACACTAACCAGCCCTCTGACCTGAGACTTAAGCCTCATCCCCGGGGATGTAGGCAAGATGGGGACCCGTCCTGAGAGAGGACAGCAGAGGGGGTGCCCTACCCAGGTGCAGGCTGCCCGTGGGCCTCAGCGGAGACGCAGGTGTGGCCAGGCGTGGGCTGCCCCTTGGGCCTCAGCCGAGACACAGGTGTGGCCGTGGGCTGCCCCGTGGGCCTCAGCCGAGACACAGGTGTGGCCAGGTGCAGGCTGCCCCGTGGGCCTCAGCCGAGACGCAGGTGTGGCCAGGTGCAGGCTGCCCCATGGGCCTCAGCCGAGACACAGGTGTGGCCAGGTACAGGCTGCCCCGTGGGCCTCAGCCGAGACGCAGGTGTGGCCGGGCCGTCTGCTTTCCACTGTCCTTCTAGTCTCTATTCATTGGCTCCTGGCGGGGTCCACAGTCCCTGCCCGCTGACAGCCACCACTCCTTCCACAGAATGACTTCCACCGTGCCATCCTGCGGACACAGTCAGCCATGTTCAACCAGGTCCTCATCCTCTTCTGCACCCTGCTGTGCCTCGTTTTCACGGGGTGAGTGCCGGCCGTCAGTGTGAGCACCCCAGGACGTTGGGAGGGCCCGAGAGGCAAGCAGGGCCGGGCGAGGGGATACAGATGCCTATGTCCAAGCTATCGGGGCAGAAAAGGCCACAGTGCCTGGGCTGCGGGTGTCGGGCCACCAAGCTGGGACTGAGGTCAGGAGGCAGCTCCAAGCCCACGTCCCCAGTACACGAGCAGCCCTGCAGCCCGACTCCTCCAAGGACAGAGATACCCAGATCTGGCTTCCTGGTCTATGCCATGGACGTAGAGAAGGGGACTGGCCCCTAGGCCAGGTGGGGTCTCTTGGCTGAGGCCCAGCTGAAAGCAGGGTCTGGAGGCAGCCAGGGTAAAGGTGGGGGTGCCCAGAGCTGCGAGGGCCTCCAGCCCACCCAGGCATGCCCACTGTGCCCACCTGCCTGTGTCCTCGTGGAGGGCTCCATGTTGCTGCTCTGCCTTGGGTCCCAGCGAGGCCTGGTCACCACTTCCCGTCCCCAGGCAGGGATGTCAGGCAAGCACTGTGCCCTGGGGGAGGGAGAGTGCCCTGCGTTTCCCGCCTCCCTTCCCCCCTGCCCCTCATGACAGACTGACAGACACAGAGCTGAGTGGGCAGATTGGGGCATCCATGAGGATAGCATCTGGGACCTGGCGGCGACCCCAGCCCTGCCCATTAGACCTCCCAGCCTCAGGCCTGGGCGCTTGTCTGGCTGTGCCGGGCAGAGGCCTGAGTGTGGTGGGTAAAGGGGCAAGGCTCTGAGATGGGGGTAGAGGGCCAGACCCCAGGCCCACCCCTGTGTCACCCAAGCCCACGCTGATGACACAGCCCTGCATCCCCTGCTCCCAGAGAATGTTCCAGGGACCTAGGAGAGAGCCACCCGGCAGGCAGGGAGGCTCCGGGGAATTCGCCGTGAACAGAGGCCGCCATGCTGTGGCCAAGCTGCATTGTCAGCCAGCGTCAGGCAGGAGGTGGCTCCGGCAGAGCTTGGGGACAGATGGGCAGGGCTGAGGGCCTGATGCCACCCAGCTGTCAGGAGGGCGGGGCTCGCCTGGTGATGCACAGCTCAGTCTCCTGGGCAGTGAGGGTCCCGTGGGCAGGCAGGATCTCTGAGGGGCCACGGCCCCCCAGCTCCTGGGCCCCAGGCCGCCCCTCACTGCCAGGGGTTGCAGGACCTGCGGCATCCAGCACCTGGAGCGGGCGGGCGAGAACCTGTCCCTCCTGACCTCCTTCTACTTCTGCATCGTCACCTTCTCCACCGTGGGCTACGGTGACGTCACGCCCAAGATCTGGCCATCGCAGCTGCTGGTGGTCATCATGATCTGCGTGGCCCTCGTGGTGCTCCCACTGCAGGTGGGTCCTCTGGGCACCAGCCCTGGGTGGCACCAGCAAAGGGACAGGCGGGTGCCAGTAGAGGGAGGGTGCCACTGAGGCTGTGGCACAGTGCGGGGGCCACTCCCAGGAGGGGACAGTGAGGCCAGGCGGGTGGTGCCTGCTCCGTTGCACGCCCCCACTGAGGGTCTACGGCGGGTCCGGTGGTGCTCAGCATGGTGGGTAATGATGGAGTCCCGTGAGCTGGCCTCTTCCTTCTGGGGAGATGGTGGGTCTCCAGTGCCAGGGTGACCTGCCCCTCCCAGGCCCAGGCAGAGTGCAGGGAAGGGTCAAGGTGGACAGCCGGCCCATTTCCCATCCACAGCCAGGTGCAGCAGCAGCTGCCAGGCCCACAGGGGGCACACCCCCCCGGCCACCCCAGTGGCTTCCCCGTCACCACTGCTGTGGCCCACTGCCCACTGAGCAGAGGAGGGGACGGGGCAAGACCTCAGTGGGAAAGGTGGAGGCCTGGAGAGGGCAGCTGCCTCAGGGTGTGAAGTGCTTGGGCCTGGACTGCCTCCGACACCTCCTCCAGGCACCCCAGCCCACCCTGGAGGGACCCTGCTATTGGGGAGATGGGAGAAGGAGGGGACCCCTGTGGGTGGTGGAACATTTTCCAGGAGGCTGGGTAGGAGGAAGAGCCTGAGGAGGTGGCCAGGGCCTTCTGGGAGACAGACCCCCAGGTGGCTGCAGGATGCCGGGGAGACAGGGCAGTGCTCCTAGGGAGCCTCTGCTGACCCCAGGCTCAGCCCCAGCTCCCTCCCGCTAAACAGCAGTGGGCGTGGCCCAGGTATGGGCCCAGGCCAGGCCTGGCTCTTCTCCTCACTATATCCAAGCCAAAGCTGTGGCACCAGCTGTACGGCCCCCAGCGTGGGCCATGTTCTCCACATCTGTGGCTTCTGTTCTCCTGAGTTCAGATGGGGCCGTGCGCGTCTTTCCATCTGGTTGTCGGCCACTCCACCGTCCAGTGCCACGAGTCCCGCTCCTGTGAGCTGCCCGCTCCTCTTTGGTCTTCCCCCTGGTTCTCGCTGATGAGCGAGTCTCTGTGTTCTAGAAGAAGCCAGTTGTGTGTGGCTTTCCCGTTACTTCCTGCTCTGTGACCGCCCCTCTCACTTTGCTTACAGAATCTTCCATTCACGGATGGTCTTGATTTTTTTTTTTTAAATTAGAGATAGGGTCTCACTCTCATTTTGTTGCCCAGGCTGGCCTCGAACTCCTGGGCTCAAGCGATCCTCCCGCCTCAGCCCCAGAAATAGCTGGGATTACAGGCGGCTTGGCTTTGATTCACCAATCTTTCCCTTATGGTTTCTGTTTTCCTGTCTTTACTGAAAAGATCATTCCCTCCCTCGATCATAAACCTGGCTTCCTATTTTCTTCTAAAAGTGTAAAGCTCGCCTCTCACCTGGAGGGTTTCACCCACCAGGAACCACCATGTGGGGTGGGGTGGAGCTGGGTTCTCCCCTCTGACGCCTGCTCCCCCACACCCTGCATTCTGCTCCTTTCTCTGCGCATTTCATAACCAGGCAAGGGCGGGAGTGAGGGTGGGAGTGAGGCCAGGAGCACAGTGTGGGGGGCACTCCGTGCAGTGACACTGCCTCCCTCCTCGGCCCTCCTGCCCCAATCCGTAAATCTCACCTCAAATTCTTTACCTTAATTACTTCTGCAAAGACCCTTTTGCAAATGAGGACTCATCCTGAGGTGCAGGGGGACCTGCTTTCAGGGCCATCCTTGACCTTGCTACGGGCCCCCAGCCTCCGTCCCTGGTCCGCCCCGGCCCACACTTCACCACGTGGCCGGCACCTGCTGAGGCCGCTGCACCCAGATGCTCTGCAGAGGCGTTGACCCATCCAGTCTCT
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GAGGAGGGACAAAGTGAAGGGTGTGACAAACCCAGGCCACGAGGACCAGGGCCACAAACACCAGGCCACACGCAAACTGGGGCCACGGGGCCACAGGCAGGCCCTGTGCTGAGCATCTCAGGAAACCTGGGCCACGGGGCCACAGGCAGGCCCTGCTCTGAGTGTCTCAACATGGTCCCTGTCATGTGAATGGCAGCAGTCAGTTCCCTAGGCGCCCACCCTCTCCAAGCCAGACCCCTTGACTCACAGCCCCCATTCCTGCCCCAGTGGTAAATCAGCGTTACCATGCTGGGTCCAAGCCTTGCACACTAACCAGCCCTCTGACCTGAGACTTAAGCCTCATCCCCGGGGATGTAGGCAAGATGGGGACCCGTCCTGAGAGAGGACAGCAGAGGGGGTGCCCTACCCAGGTGCAGGCTGCCCGTGGGCCTCAGCGGAGACGCAGGTGTGGCCAGGCGTGGGCTGCCCCTTGGGCCTCAGCCGAGACACAGGTGTGGCCGTGGGCTGCCCCGTGGGCCTCAGCCGAGACACAGGTGTGGCCAGGTGCAGGCTGCCCCGTGGGCCTCAGCCGAGACGCAGGTGTGGCCAGGTGCAGGCTGCCCCATGGGCCTCAGCCGAGACACAGGTGTGGCCAGGTACAGGCTGCCCCGTGGGCCTCAGCCGAGACGCAGGTGTGGCCGGGCCGTCTGCTTTCCACTGTCCTTCTAGTCTCTATTCATTGGCTCCTGGCGGGGTCCACAGTCCCTGCCCGCTGACAGCCACCACTCCTTCCACAGAATGACTTCCACCGTGCCATCCTGCGGACACAGTCAGCCATGTTCAACCAGGTCCTCATCCTCTTCTGCACCCTGCTGTGCCTCGTTTTCACGGGGTGAGTGCCGGCCGTCAGTGTGAGCACCCCAGGACGTTGGGAGGGCCCGAGAGGCAAGCAGGGCCGGGCGAGGGGATACAGATGCCTATGTCCAAGCTATCGGGGCAGAAAAGGCCACAGTGCCTGGGCTGCGGGTGTCGGGCCACCAAGCTGGGACTGAGGTCAGGAGGCAGCTCCAAGCCCACGTCCCCAGTACACGAGCAGCCCTGCAGCCCGACTCCTCCAAGGACAGAGATACCCAGATCTGGCTTCCTGGTCTATGCCATGGACGTAGAGAAGGGGACTGGCCCCTAGGCCAGGTGGGGTCTCTTGGCTGAGGCCCAGCTGAAAGCAGGGTCTGGAGGCAGCCAGGGTAAAGGTGGGGGTGCCCAGAGCTGCGAGGGCCTCCAGCCCACCCAGGCATGCCCACTGTGCCCACCTGCCTGTGTCCTCGTGGAGGGCTCCATGTTGCTGCTCTGCCTTGGGTCCCAGCGAGGCCTGGTCACCACTTCCCGTCCCCAGGCAGGGATGTCAGGCAAGCACTGTGCCCTGGGGGAGGGAGAGTGCCCTGCGTTTCCCGCCTCCCTTCCCCCCTGCCCCTCATGACAGACTGACAGACACAGAGCTGAGTGGGCAGATTGGGGCATCCATGAGGATAGCATCTGGGACCTGGCGGCGACCCCAGCCCTGCCCATTAGACCTCCCAGCCTCAGGCCTGGGCGCTTGTCTGGCTGTGCCGGGCAGAGGCCTGAGTGTGGTGGGTAAAGGGGCAAGGCTCTGAGATGGGGGTAGAGGGCCAGACCCCAGGCCCACCCCTGTGTCACCCAAGCCCACGCTGATGACACAGCCCTGCATCCCCTGCTCCCAGAGAATGTTCCAGGGACCTAGGAGAGAGCCACCCGGCAGGCAGGGAGGCTCCGGGGAATTCGCCGTGAACAGAGGCCGCCATGCTGTGGCCAAGCTGCATTGTCAGCCAGCGTCAGGCAGGAGGTGGCTCCGGCAGAGCTTGGGGACAGATGGGCAGGGCTGAGGGCCTGATGCCACCCAGCTGTCAGGAGGGCGGGGCTCGCCTGGTGATGCACAGCTCAGTCTCCTGGGCAGTGAGGGTCCCGTGGGCAGGCAGGATCTCTGAGGGGCCACGGCCCCCCAGCTCCTGGGCCCCAGGCCGCCCCTCACTGCCAGGGGTTGCAGGACCTGCAGCATCCAGCACCTGGAGCGGGCGGGCGAGAACCTGTCCCTCCTGACCTCCTTCTACTTCTGCATCGTCACCTTCTCCACCGTGGGCTACGGTGACGTCACGCCCAAGATCTGGCCATCGCAGCTGCTGGTGGTCATCATGATCTGCGTGGCCCTCGTGGTGCTCCCACTGCAGGTGGGTCCTCTGGGCACCAGCCCTGGGTGGCACCAGCAAAGGGACAGGCGGGTGCCAGTAGAGGGAGGGTGCCACTGAGGCTGTGGCACAGTGCGGGGGCCACTCCCAGGAGGGGACAGTGAGGCCAGGCGGGTGGTGCCTGCTCCGTTGCACGCCCCCACTGAGGGTCTACGGCGGGTCCGGTGGTGCTCAGCATGGTGGGTAATGATGGAGTCCCGTGAGCTGGCCTCTTCCTTCTGGGGAGATGGTGGGTCTCCAGTGCCAGGGTGACCTGCCCCTCCCAGGCCCAGGCAGAGTGCAGGGAAGGGTCAAGGTGGACAGCCGGCCCATTTCCCATCCACAGCCAGGTGCAGCAGCAGCTGCCAGGCCCACAGGGGGCACACCCCCCCGGCCACCCCAGTGGCTTCCCCGTCACCACTGCTGTGGCCCACTGCCCACTGAGCAGAGGAGGGGACGGGGCAAGACCTCAGTGGGAAAGGTGGAGGCCTGGAGAGGGCAGCTGCCTCAGGGTGTGAAGTGCTTGGGCCTGGACTGCCTCCGACACCTCCTCCAGGCACCCCAGCCCACCCTGGAGGGACCCTGCTATTGGGGAGATGGGAGAAGGAGGGGACCCCTGTGGGTGGTGGAACATTTTCCAGGAGGCTGGGTAGGAGGAAGAGCCTGAGGAGGTGGCCAGGGCCTTCTGGGAGACAGACCCCCAGGTGGCTGCAGGATGCCGGGGAGACAGGGCAGTGCTCCTAGGGAGCCTCTGCTGACCCCAGGCTCAGCCCCAGCTCCCTCCCGCTAAACAGCAGTGGGCGTGGCCCAGGTATGGGCCCAGGCCAGGCCTGGCTCTTCTCCTCACTATATCCAAGCCAAAGCTGTGGCACCAGCTGTACGGCCCCCAGCGTGGGCCATGTTCTCCACATCTGTGGCTTCTGTTCTCCTGAGTTCAGATGGGGCCGTGCGCGTCTTTCCATCTGGTTGTCGGCCACTCCACCGTCCAGTGCCACGAGTCCCGCTCCTGTGAGCTGCCCGCTCCTCTTTGGTCTTCCCCCTGGTTCTCGCTGATGAGCGAGTCTCTGTGTTCTAGAAGAAGCCAGTTGTGTGTGGCTTTCCCGTTACTTCCTGCTCTGTGACCGCCCCTCTCACTTTGCTTACAGAATCTTCCATTCACGGATGGTCTTGATTTTTTTTTTTTAAATTAGAGATAGGGTCTCACTCTCATTTTGTTGCCCAGGCTGGCCTCGAACTCCTGGGCTCAAGCGATCCTCCCGCCTCAGCCCCAGAAATAGCTGGGATTACAGGCGGCTTGGCTTTGATTCACCAATCTTTCCCTTATGGTTTCTGTTTTCCTGTCTTTACTGAAAAGATCATTCCCTCCCTCGATCATAAACCTGGCTTCCTATTTTCTTCTAAAAGTGTAAAGCTCGCCTCTCACCTGGAGGGTTTCACCCACCAGGAACCACCATGTGGGGTGGGGTGGAGCTGGGTTCTCCCCTCTGACGCCTGCTCCCCCACACCCTGCATTCTGCTCCTTTCTCTGCGCATTTCATAACCAGGCAAGGGCGGGAGTGAGGGTGGGAGTGAGGCCAGGAGCACAGTGTGGGGGGCACTCCGTGCAGTGACACTGCCTCCCTCCTCGGCCCTCCTGCCCCAATCCGTAAATCTCACCTCAAATTCTTTACCTTAATTACTTCTGCAAAGACCCTTTTGCAAATGAGGACTCATCCTGAGGTGCAGGGGGACCTGCTTTCAGGGCCATCCTTGACCTTGCTACGGGCCCCCAGCCTCCGTCCCTGGTCCGCCCCGGCCCACACTTCACCACGTGGCCGGCACCTGCTGAGGCCGCTGCACCCAGATGCTCTGCAGAGGCGTTGACCCATCCAGTCTCT
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Task1_train_13472
|
The gene KCNT1 (potassium sodium-activated channel subfamily T member 1), on Chromosome 9, contains a mutation. Does this mutation cause a disorder, or is it a benign change?
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Pathogenic; Autosomal dominant nocturnal frontal lobe epilepsy 5
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GAGGAGGGACAAAGTGAAGGGTGTGACAAACCCAGGCCACGAGGACCAGGGCCACAAACACCAGGCCACACGCAAACTGGGGCCACGGGGCCACAGGCAGGCCCTGTGCTGAGCATCTCAGGAAACCTGGGCCACGGGGCCACAGGCAGGCCCTGCTCTGAGTGTCTCAACATGGTCCCTGTCATGTGAATGGCAGCAGTCAGTTCCCTAGGCGCCCACCCTCTCCAAGCCAGACCCCTTGACTCACAGCCCCCATTCCTGCCCCAGTGGTAAATCAGCGTTACCATGCTGGGTCCAAGCCTTGCACACTAACCAGCCCTCTGACCTGAGACTTAAGCCTCATCCCCGGGGATGTAGGCAAGATGGGGACCCGTCCTGAGAGAGGACAGCAGAGGGGGTGCCCTACCCAGGTGCAGGCTGCCCGTGGGCCTCAGCGGAGACGCAGGTGTGGCCAGGCGTGGGCTGCCCCTTGGGCCTCAGCCGAGACACAGGTGTGGCCGTGGGCTGCCCCGTGGGCCTCAGCCGAGACACAGGTGTGGCCAGGTGCAGGCTGCCCCGTGGGCCTCAGCCGAGACGCAGGTGTGGCCAGGTGCAGGCTGCCCCATGGGCCTCAGCCGAGACACAGGTGTGGCCAGGTACAGGCTGCCCCGTGGGCCTCAGCCGAGACGCAGGTGTGGCCGGGCCGTCTGCTTTCCACTGTCCTTCTAGTCTCTATTCATTGGCTCCTGGCGGGGTCCACAGTCCCTGCCCGCTGACAGCCACCACTCCTTCCACAGAATGACTTCCACCGTGCCATCCTGCGGACACAGTCAGCCATGTTCAACCAGGTCCTCATCCTCTTCTGCACCCTGCTGTGCCTCGTTTTCACGGGGTGAGTGCCGGCCGTCAGTGTGAGCACCCCAGGACGTTGGGAGGGCCCGAGAGGCAAGCAGGGCCGGGCGAGGGGATACAGATGCCTATGTCCAAGCTATCGGGGCAGAAAAGGCCACAGTGCCTGGGCTGCGGGTGTCGGGCCACCAAGCTGGGACTGAGGTCAGGAGGCAGCTCCAAGCCCACGTCCCCAGTACACGAGCAGCCCTGCAGCCCGACTCCTCCAAGGACAGAGATACCCAGATCTGGCTTCCTGGTCTATGCCATGGACGTAGAGAAGGGGACTGGCCCCTAGGCCAGGTGGGGTCTCTTGGCTGAGGCCCAGCTGAAAGCAGGGTCTGGAGGCAGCCAGGGTAAAGGTGGGGGTGCCCAGAGCTGCGAGGGCCTCCAGCCCACCCAGGCATGCCCACTGTGCCCACCTGCCTGTGTCCTCGTGGAGGGCTCCATGTTGCTGCTCTGCCTTGGGTCCCAGCGAGGCCTGGTCACCACTTCCCGTCCCCAGGCAGGGATGTCAGGCAAGCACTGTGCCCTGGGGGAGGGAGAGTGCCCTGCGTTTCCCGCCTCCCTTCCCCCCTGCCCCTCATGACAGACTGACAGACACAGAGCTGAGTGGGCAGATTGGGGCATCCATGAGGATAGCATCTGGGACCTGGCGGCGACCCCAGCCCTGCCCATTAGACCTCCCAGCCTCAGGCCTGGGCGCTTGTCTGGCTGTGCCGGGCAGAGGCCTGAGTGTGGTGGGTAAAGGGGCAAGGCTCTGAGATGGGGGTAGAGGGCCAGACCCCAGGCCCACCCCTGTGTCACCCAAGCCCACGCTGATGACACAGCCCTGCATCCCCTGCTCCCAGAGAATGTTCCAGGGACCTAGGAGAGAGCCACCCGGCAGGCAGGGAGGCTCCGGGGAATTCGCCGTGAACAGAGGCCGCCATGCTGTGGCCAAGCTGCATTGTCAGCCAGCGTCAGGCAGGAGGTGGCTCCGGCAGAGCTTGGGGACAGATGGGCAGGGCTGAGGGCCTGATGCCACCCAGCTGTCAGGAGGGCGGGGCTCGCCTGGTGATGCACAGCTCAGTCTCCTGGGCAGTGAGGGTCCCGTGGGCAGGCAGGATCTCTGAGGGGCCACGGCCCCCCAGCTCCTGGGCCCCAGGCCGCCCCTCACTGCCAGGGGTTGCAGGACCTGCGGCATCCAGCACCTGGAGCGGGCGGGCGAGAACCTGTCCCTCCTGACCTCCTTCTACTTCTGCATCGTCACCTTCTCCACCGTGGGCTACGGTGACGTCACGCCCAAGATCTGGCCATCGCAGCTGCTGGTGGTCATCATGATCTGCGTGGCCCTCGTGGTGCTCCCACTGCAGGTGGGTCCTCTGGGCACCAGCCCTGGGTGGCACCAGCAAAGGGACAGGCGGGTGCCAGTAGAGGGAGGGTGCCACTGAGGCTGTGGCACAGTGCGGGGGCCACTCCCAGGAGGGGACAGTGAGGCCAGGCGGGTGGTGCCTGCTCCGTTGCACGCCCCCACTGAGGGTCTACGGCGGGTCCGGTGGTGCTCAGCATGGTGGGTAATGATGGAGTCCCGTGAGCTGGCCTCTTCCTTCTGGGGAGATGGTGGGTCTCCAGTGCCAGGGTGACCTGCCCCTCCCAGGCCCAGGCAGAGTGCAGGGAAGGGTCAAGGTGGACAGCCGGCCCATTTCCCATCCACAGCCAGGTGCAGCAGCAGCTGCCAGGCCCACAGGGGGCACACCCCCCCGGCCACCCCAGTGGCTTCCCCGTCACCACTGCTGTGGCCCACTGCCCACTGAGCAGAGGAGGGGACGGGGCAAGACCTCAGTGGGAAAGGTGGAGGCCTGGAGAGGGCAGCTGCCTCAGGGTGTGAAGTGCTTGGGCCTGGACTGCCTCCGACACCTCCTCCAGGCACCCCAGCCCACCCTGGAGGGACCCTGCTATTGGGGAGATGGGAGAAGGAGGGGACCCCTGTGGGTGGTGGAACATTTTCCAGGAGGCTGGGTAGGAGGAAGAGCCTGAGGAGGTGGCCAGGGCCTTCTGGGAGACAGACCCCCAGGTGGCTGCAGGATGCCGGGGAGACAGGGCAGTGCTCCTAGGGAGCCTCTGCTGACCCCAGGCTCAGCCCCAGCTCCCTCCCGCTAAACAGCAGTGGGCGTGGCCCAGGTATGGGCCCAGGCCAGGCCTGGCTCTTCTCCTCACTATATCCAAGCCAAAGCTGTGGCACCAGCTGTACGGCCCCCAGCGTGGGCCATGTTCTCCACATCTGTGGCTTCTGTTCTCCTGAGTTCAGATGGGGCCGTGCGCGTCTTTCCATCTGGTTGTCGGCCACTCCACCGTCCAGTGCCACGAGTCCCGCTCCTGTGAGCTGCCCGCTCCTCTTTGGTCTTCCCCCTGGTTCTCGCTGATGAGCGAGTCTCTGTGTTCTAGAAGAAGCCAGTTGTGTGTGGCTTTCCCGTTACTTCCTGCTCTGTGACCGCCCCTCTCACTTTGCTTACAGAATCTTCCATTCACGGATGGTCTTGATTTTTTTTTTTTAAATTAGAGATAGGGTCTCACTCTCATTTTGTTGCCCAGGCTGGCCTCGAACTCCTGGGCTCAAGCGATCCTCCCGCCTCAGCCCCAGAAATAGCTGGGATTACAGGCGGCTTGGCTTTGATTCACCAATCTTTCCCTTATGGTTTCTGTTTTCCTGTCTTTACTGAAAAGATCATTCCCTCCCTCGATCATAAACCTGGCTTCCTATTTTCTTCTAAAAGTGTAAAGCTCGCCTCTCACCTGGAGGGTTTCACCCACCAGGAACCACCATGTGGGGTGGGGTGGAGCTGGGTTCTCCCCTCTGACGCCTGCTCCCCCACACCCTGCATTCTGCTCCTTTCTCTGCGCATTTCATAACCAGGCAAGGGCGGGAGTGAGGGTGGGAGTGAGGCCAGGAGCACAGTGTGGGGGGCACTCCGTGCAGTGACACTGCCTCCCTCCTCGGCCCTCCTGCCCCAATCCGTAAATCTCACCTCAAATTCTTTACCTTAATTACTTCTGCAAAGACCCTTTTGCAAATGAGGACTCATCCTGAGGTGCAGGGGGACCTGCTTTCAGGGCCATCCTTGACCTTGCTACGGGCCCCCAGCCTCCGTCCCTGGTCCGCCCCGGCCCACACTTCACCACGTGGCCGGCACCTGCTGAGGCCGCTGCACCCAGATGCTCTGCAGAGGCGTTGACCCATCCAGTCTCT
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GAGGAGGGACAAAGTGAAGGGTGTGACAAACCCAGGCCACGAGGACCAGGGCCACAAACACCAGGCCACACGCAAACTGGGGCCACGGGGCCACAGGCAGGCCCTGTGCTGAGCATCTCAGGAAACCTGGGCCACGGGGCCACAGGCAGGCCCTGCTCTGAGTGTCTCAACATGGTCCCTGTCATGTGAATGGCAGCAGTCAGTTCCCTAGGCGCCCACCCTCTCCAAGCCAGACCCCTTGACTCACAGCCCCCATTCCTGCCCCAGTGGTAAATCAGCGTTACCATGCTGGGTCCAAGCCTTGCACACTAACCAGCCCTCTGACCTGAGACTTAAGCCTCATCCCCGGGGATGTAGGCAAGATGGGGACCCGTCCTGAGAGAGGACAGCAGAGGGGGTGCCCTACCCAGGTGCAGGCTGCCCGTGGGCCTCAGCGGAGACGCAGGTGTGGCCAGGCGTGGGCTGCCCCTTGGGCCTCAGCCGAGACACAGGTGTGGCCGTGGGCTGCCCCGTGGGCCTCAGCCGAGACACAGGTGTGGCCAGGTGCAGGCTGCCCCGTGGGCCTCAGCCGAGACGCAGGTGTGGCCAGGTGCAGGCTGCCCCATGGGCCTCAGCCGAGACACAGGTGTGGCCAGGTACAGGCTGCCCCGTGGGCCTCAGCCGAGACGCAGGTGTGGCCGGGCCGTCTGCTTTCCACTGTCCTTCTAGTCTCTATTCATTGGCTCCTGGCGGGGTCCACAGTCCCTGCCCGCTGACAGCCACCACTCCTTCCACAGAATGACTTCCACCGTGCCATCCTGCGGACACAGTCAGCCATGTTCAACCAGGTCCTCATCCTCTTCTGCACCCTGCTGTGCCTCGTTTTCACGGGGTGAGTGCCGGCCGTCAGTGTGAGCACCCCAGGACGTTGGGAGGGCCCGAGAGGCAAGCAGGGCCGGGCGAGGGGATACAGATGCCTATGTCCAAGCTATCGGGGCAGAAAAGGCCACAGTGCCTGGGCTGCGGGTGTCGGGCCACCAAGCTGGGACTGAGGTCAGGAGGCAGCTCCAAGCCCACGTCCCCAGTACACGAGCAGCCCTGCAGCCCGACTCCTCCAAGGACAGAGATACCCAGATCTGGCTTCCTGGTCTATGCCATGGACGTAGAGAAGGGGACTGGCCCCTAGGCCAGGTGGGGTCTCTTGGCTGAGGCCCAGCTGAAAGCAGGGTCTGGAGGCAGCCAGGGTAAAGGTGGGGGTGCCCAGAGCTGCGAGGGCCTCCAGCCCACCCAGGCATGCCCACTGTGCCCACCTGCCTGTGTCCTCGTGGAGGGCTCCATGTTGCTGCTCTGCCTTGGGTCCCAGCGAGGCCTGGTCACCACTTCCCGTCCCCAGGCAGGGATGTCAGGCAAGCACTGTGCCCTGGGGGAGGGAGAGTGCCCTGCGTTTCCCGCCTCCCTTCCCCCCTGCCCCTCATGACAGACTGACAGACACAGAGCTGAGTGGGCAGATTGGGGCATCCATGAGGATAGCATCTGGGACCTGGCGGCGACCCCAGCCCTGCCCATTAGACCTCCCAGCCTCAGGCCTGGGCGCTTGTCTGGCTGTGCCGGGCAGAGGCCTGAGTGTGGTGGGTAAAGGGGCAAGGCTCTGAGATGGGGGTAGAGGGCCAGACCCCAGGCCCACCCCTGTGTCACCCAAGCCCACGCTGATGACACAGCCCTGCATCCCCTGCTCCCAGAGAATGTTCCAGGGACCTAGGAGAGAGCCACCCGGCAGGCAGGGAGGCTCCGGGGAATTCGCCGTGAACAGAGGCCGCCATGCTGTGGCCAAGCTGCATTGTCAGCCAGCGTCAGGCAGGAGGTGGCTCCGGCAGAGCTTGGGGACAGATGGGCAGGGCTGAGGGCCTGATGCCACCCAGCTGTCAGGAGGGCGGGGCTCGCCTGGTGATGCACAGCTCAGTCTCCTGGGCAGTGAGGGTCCCGTGGGCAGGCAGGATCTCTGAGGGGCCACGGCCCCCCAGCTCCTGGGCCCCAGGCCGCCCCTCACTGCCAGGGGTTGCAGGACCTGCAGCATCCAGCACCTGGAGCGGGCGGGCGAGAACCTGTCCCTCCTGACCTCCTTCTACTTCTGCATCGTCACCTTCTCCACCGTGGGCTACGGTGACGTCACGCCCAAGATCTGGCCATCGCAGCTGCTGGTGGTCATCATGATCTGCGTGGCCCTCGTGGTGCTCCCACTGCAGGTGGGTCCTCTGGGCACCAGCCCTGGGTGGCACCAGCAAAGGGACAGGCGGGTGCCAGTAGAGGGAGGGTGCCACTGAGGCTGTGGCACAGTGCGGGGGCCACTCCCAGGAGGGGACAGTGAGGCCAGGCGGGTGGTGCCTGCTCCGTTGCACGCCCCCACTGAGGGTCTACGGCGGGTCCGGTGGTGCTCAGCATGGTGGGTAATGATGGAGTCCCGTGAGCTGGCCTCTTCCTTCTGGGGAGATGGTGGGTCTCCAGTGCCAGGGTGACCTGCCCCTCCCAGGCCCAGGCAGAGTGCAGGGAAGGGTCAAGGTGGACAGCCGGCCCATTTCCCATCCACAGCCAGGTGCAGCAGCAGCTGCCAGGCCCACAGGGGGCACACCCCCCCGGCCACCCCAGTGGCTTCCCCGTCACCACTGCTGTGGCCCACTGCCCACTGAGCAGAGGAGGGGACGGGGCAAGACCTCAGTGGGAAAGGTGGAGGCCTGGAGAGGGCAGCTGCCTCAGGGTGTGAAGTGCTTGGGCCTGGACTGCCTCCGACACCTCCTCCAGGCACCCCAGCCCACCCTGGAGGGACCCTGCTATTGGGGAGATGGGAGAAGGAGGGGACCCCTGTGGGTGGTGGAACATTTTCCAGGAGGCTGGGTAGGAGGAAGAGCCTGAGGAGGTGGCCAGGGCCTTCTGGGAGACAGACCCCCAGGTGGCTGCAGGATGCCGGGGAGACAGGGCAGTGCTCCTAGGGAGCCTCTGCTGACCCCAGGCTCAGCCCCAGCTCCCTCCCGCTAAACAGCAGTGGGCGTGGCCCAGGTATGGGCCCAGGCCAGGCCTGGCTCTTCTCCTCACTATATCCAAGCCAAAGCTGTGGCACCAGCTGTACGGCCCCCAGCGTGGGCCATGTTCTCCACATCTGTGGCTTCTGTTCTCCTGAGTTCAGATGGGGCCGTGCGCGTCTTTCCATCTGGTTGTCGGCCACTCCACCGTCCAGTGCCACGAGTCCCGCTCCTGTGAGCTGCCCGCTCCTCTTTGGTCTTCCCCCTGGTTCTCGCTGATGAGCGAGTCTCTGTGTTCTAGAAGAAGCCAGTTGTGTGTGGCTTTCCCGTTACTTCCTGCTCTGTGACCGCCCCTCTCACTTTGCTTACAGAATCTTCCATTCACGGATGGTCTTGATTTTTTTTTTTTAAATTAGAGATAGGGTCTCACTCTCATTTTGTTGCCCAGGCTGGCCTCGAACTCCTGGGCTCAAGCGATCCTCCCGCCTCAGCCCCAGAAATAGCTGGGATTACAGGCGGCTTGGCTTTGATTCACCAATCTTTCCCTTATGGTTTCTGTTTTCCTGTCTTTACTGAAAAGATCATTCCCTCCCTCGATCATAAACCTGGCTTCCTATTTTCTTCTAAAAGTGTAAAGCTCGCCTCTCACCTGGAGGGTTTCACCCACCAGGAACCACCATGTGGGGTGGGGTGGAGCTGGGTTCTCCCCTCTGACGCCTGCTCCCCCACACCCTGCATTCTGCTCCTTTCTCTGCGCATTTCATAACCAGGCAAGGGCGGGAGTGAGGGTGGGAGTGAGGCCAGGAGCACAGTGTGGGGGGCACTCCGTGCAGTGACACTGCCTCCCTCCTCGGCCCTCCTGCCCCAATCCGTAAATCTCACCTCAAATTCTTTACCTTAATTACTTCTGCAAAGACCCTTTTGCAAATGAGGACTCATCCTGAGGTGCAGGGGGACCTGCTTTCAGGGCCATCCTTGACCTTGCTACGGGCCCCCAGCCTCCGTCCCTGGTCCGCCCCGGCCCACACTTCACCACGTGGCCGGCACCTGCTGAGGCCGCTGCACCCAGATGCTCTGCAGAGGCGTTGACCCATCCAGTCTCT
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Task1_train_13473
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A mutation found in KCNT1 (potassium sodium-activated channel subfamily T member 1) on Chromosome 9 may be clinically relevant. Is it pathogenic or benign, and if the former, which disease is implicated?
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Pathogenic; Developmental and epileptic encephalopathy, 14
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GAGGAGGGACAAAGTGAAGGGTGTGACAAACCCAGGCCACGAGGACCAGGGCCACAAACACCAGGCCACACGCAAACTGGGGCCACGGGGCCACAGGCAGGCCCTGTGCTGAGCATCTCAGGAAACCTGGGCCACGGGGCCACAGGCAGGCCCTGCTCTGAGTGTCTCAACATGGTCCCTGTCATGTGAATGGCAGCAGTCAGTTCCCTAGGCGCCCACCCTCTCCAAGCCAGACCCCTTGACTCACAGCCCCCATTCCTGCCCCAGTGGTAAATCAGCGTTACCATGCTGGGTCCAAGCCTTGCACACTAACCAGCCCTCTGACCTGAGACTTAAGCCTCATCCCCGGGGATGTAGGCAAGATGGGGACCCGTCCTGAGAGAGGACAGCAGAGGGGGTGCCCTACCCAGGTGCAGGCTGCCCGTGGGCCTCAGCGGAGACGCAGGTGTGGCCAGGCGTGGGCTGCCCCTTGGGCCTCAGCCGAGACACAGGTGTGGCCGTGGGCTGCCCCGTGGGCCTCAGCCGAGACACAGGTGTGGCCAGGTGCAGGCTGCCCCGTGGGCCTCAGCCGAGACGCAGGTGTGGCCAGGTGCAGGCTGCCCCATGGGCCTCAGCCGAGACACAGGTGTGGCCAGGTACAGGCTGCCCCGTGGGCCTCAGCCGAGACGCAGGTGTGGCCGGGCCGTCTGCTTTCCACTGTCCTTCTAGTCTCTATTCATTGGCTCCTGGCGGGGTCCACAGTCCCTGCCCGCTGACAGCCACCACTCCTTCCACAGAATGACTTCCACCGTGCCATCCTGCGGACACAGTCAGCCATGTTCAACCAGGTCCTCATCCTCTTCTGCACCCTGCTGTGCCTCGTTTTCACGGGGTGAGTGCCGGCCGTCAGTGTGAGCACCCCAGGACGTTGGGAGGGCCCGAGAGGCAAGCAGGGCCGGGCGAGGGGATACAGATGCCTATGTCCAAGCTATCGGGGCAGAAAAGGCCACAGTGCCTGGGCTGCGGGTGTCGGGCCACCAAGCTGGGACTGAGGTCAGGAGGCAGCTCCAAGCCCACGTCCCCAGTACACGAGCAGCCCTGCAGCCCGACTCCTCCAAGGACAGAGATACCCAGATCTGGCTTCCTGGTCTATGCCATGGACGTAGAGAAGGGGACTGGCCCCTAGGCCAGGTGGGGTCTCTTGGCTGAGGCCCAGCTGAAAGCAGGGTCTGGAGGCAGCCAGGGTAAAGGTGGGGGTGCCCAGAGCTGCGAGGGCCTCCAGCCCACCCAGGCATGCCCACTGTGCCCACCTGCCTGTGTCCTCGTGGAGGGCTCCATGTTGCTGCTCTGCCTTGGGTCCCAGCGAGGCCTGGTCACCACTTCCCGTCCCCAGGCAGGGATGTCAGGCAAGCACTGTGCCCTGGGGGAGGGAGAGTGCCCTGCGTTTCCCGCCTCCCTTCCCCCCTGCCCCTCATGACAGACTGACAGACACAGAGCTGAGTGGGCAGATTGGGGCATCCATGAGGATAGCATCTGGGACCTGGCGGCGACCCCAGCCCTGCCCATTAGACCTCCCAGCCTCAGGCCTGGGCGCTTGTCTGGCTGTGCCGGGCAGAGGCCTGAGTGTGGTGGGTAAAGGGGCAAGGCTCTGAGATGGGGGTAGAGGGCCAGACCCCAGGCCCACCCCTGTGTCACCCAAGCCCACGCTGATGACACAGCCCTGCATCCCCTGCTCCCAGAGAATGTTCCAGGGACCTAGGAGAGAGCCACCCGGCAGGCAGGGAGGCTCCGGGGAATTCGCCGTGAACAGAGGCCGCCATGCTGTGGCCAAGCTGCATTGTCAGCCAGCGTCAGGCAGGAGGTGGCTCCGGCAGAGCTTGGGGACAGATGGGCAGGGCTGAGGGCCTGATGCCACCCAGCTGTCAGGAGGGCGGGGCTCGCCTGGTGATGCACAGCTCAGTCTCCTGGGCAGTGAGGGTCCCGTGGGCAGGCAGGATCTCTGAGGGGCCACGGCCCCCCAGCTCCTGGGCCCCAGGCCGCCCCTCACTGCCAGGGGTTGCAGGACCTGCGGCATCCAGCACCTGGAGCGGGCGGGCGAGAACCTGTCCCTCCTGACCTCCTTCTACTTCTGCATCGTCACCTTCTCCACCGTGGGCTACGGTGACGTCACGCCCAAGATCTGGCCATCGCAGCTGCTGGTGGTCATCATGATCTGCGTGGCCCTCGTGGTGCTCCCACTGCAGGTGGGTCCTCTGGGCACCAGCCCTGGGTGGCACCAGCAAAGGGACAGGCGGGTGCCAGTAGAGGGAGGGTGCCACTGAGGCTGTGGCACAGTGCGGGGGCCACTCCCAGGAGGGGACAGTGAGGCCAGGCGGGTGGTGCCTGCTCCGTTGCACGCCCCCACTGAGGGTCTACGGCGGGTCCGGTGGTGCTCAGCATGGTGGGTAATGATGGAGTCCCGTGAGCTGGCCTCTTCCTTCTGGGGAGATGGTGGGTCTCCAGTGCCAGGGTGACCTGCCCCTCCCAGGCCCAGGCAGAGTGCAGGGAAGGGTCAAGGTGGACAGCCGGCCCATTTCCCATCCACAGCCAGGTGCAGCAGCAGCTGCCAGGCCCACAGGGGGCACACCCCCCCGGCCACCCCAGTGGCTTCCCCGTCACCACTGCTGTGGCCCACTGCCCACTGAGCAGAGGAGGGGACGGGGCAAGACCTCAGTGGGAAAGGTGGAGGCCTGGAGAGGGCAGCTGCCTCAGGGTGTGAAGTGCTTGGGCCTGGACTGCCTCCGACACCTCCTCCAGGCACCCCAGCCCACCCTGGAGGGACCCTGCTATTGGGGAGATGGGAGAAGGAGGGGACCCCTGTGGGTGGTGGAACATTTTCCAGGAGGCTGGGTAGGAGGAAGAGCCTGAGGAGGTGGCCAGGGCCTTCTGGGAGACAGACCCCCAGGTGGCTGCAGGATGCCGGGGAGACAGGGCAGTGCTCCTAGGGAGCCTCTGCTGACCCCAGGCTCAGCCCCAGCTCCCTCCCGCTAAACAGCAGTGGGCGTGGCCCAGGTATGGGCCCAGGCCAGGCCTGGCTCTTCTCCTCACTATATCCAAGCCAAAGCTGTGGCACCAGCTGTACGGCCCCCAGCGTGGGCCATGTTCTCCACATCTGTGGCTTCTGTTCTCCTGAGTTCAGATGGGGCCGTGCGCGTCTTTCCATCTGGTTGTCGGCCACTCCACCGTCCAGTGCCACGAGTCCCGCTCCTGTGAGCTGCCCGCTCCTCTTTGGTCTTCCCCCTGGTTCTCGCTGATGAGCGAGTCTCTGTGTTCTAGAAGAAGCCAGTTGTGTGTGGCTTTCCCGTTACTTCCTGCTCTGTGACCGCCCCTCTCACTTTGCTTACAGAATCTTCCATTCACGGATGGTCTTGATTTTTTTTTTTTAAATTAGAGATAGGGTCTCACTCTCATTTTGTTGCCCAGGCTGGCCTCGAACTCCTGGGCTCAAGCGATCCTCCCGCCTCAGCCCCAGAAATAGCTGGGATTACAGGCGGCTTGGCTTTGATTCACCAATCTTTCCCTTATGGTTTCTGTTTTCCTGTCTTTACTGAAAAGATCATTCCCTCCCTCGATCATAAACCTGGCTTCCTATTTTCTTCTAAAAGTGTAAAGCTCGCCTCTCACCTGGAGGGTTTCACCCACCAGGAACCACCATGTGGGGTGGGGTGGAGCTGGGTTCTCCCCTCTGACGCCTGCTCCCCCACACCCTGCATTCTGCTCCTTTCTCTGCGCATTTCATAACCAGGCAAGGGCGGGAGTGAGGGTGGGAGTGAGGCCAGGAGCACAGTGTGGGGGGCACTCCGTGCAGTGACACTGCCTCCCTCCTCGGCCCTCCTGCCCCAATCCGTAAATCTCACCTCAAATTCTTTACCTTAATTACTTCTGCAAAGACCCTTTTGCAAATGAGGACTCATCCTGAGGTGCAGGGGGACCTGCTTTCAGGGCCATCCTTGACCTTGCTACGGGCCCCCAGCCTCCGTCCCTGGTCCGCCCCGGCCCACACTTCACCACGTGGCCGGCACCTGCTGAGGCCGCTGCACCCAGATGCTCTGCAGAGGCGTTGACCCATCCAGTCTCT
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GAGGAGGGACAAAGTGAAGGGTGTGACAAACCCAGGCCACGAGGACCAGGGCCACAAACACCAGGCCACACGCAAACTGGGGCCACGGGGCCACAGGCAGGCCCTGTGCTGAGCATCTCAGGAAACCTGGGCCACGGGGCCACAGGCAGGCCCTGCTCTGAGTGTCTCAACATGGTCCCTGTCATGTGAATGGCAGCAGTCAGTTCCCTAGGCGCCCACCCTCTCCAAGCCAGACCCCTTGACTCACAGCCCCCATTCCTGCCCCAGTGGTAAATCAGCGTTACCATGCTGGGTCCAAGCCTTGCACACTAACCAGCCCTCTGACCTGAGACTTAAGCCTCATCCCCGGGGATGTAGGCAAGATGGGGACCCGTCCTGAGAGAGGACAGCAGAGGGGGTGCCCTACCCAGGTGCAGGCTGCCCGTGGGCCTCAGCGGAGACGCAGGTGTGGCCAGGCGTGGGCTGCCCCTTGGGCCTCAGCCGAGACACAGGTGTGGCCGTGGGCTGCCCCGTGGGCCTCAGCCGAGACACAGGTGTGGCCAGGTGCAGGCTGCCCCGTGGGCCTCAGCCGAGACGCAGGTGTGGCCAGGTGCAGGCTGCCCCATGGGCCTCAGCCGAGACACAGGTGTGGCCAGGTACAGGCTGCCCCGTGGGCCTCAGCCGAGACGCAGGTGTGGCCGGGCCGTCTGCTTTCCACTGTCCTTCTAGTCTCTATTCATTGGCTCCTGGCGGGGTCCACAGTCCCTGCCCGCTGACAGCCACCACTCCTTCCACAGAATGACTTCCACCGTGCCATCCTGCGGACACAGTCAGCCATGTTCAACCAGGTCCTCATCCTCTTCTGCACCCTGCTGTGCCTCGTTTTCACGGGGTGAGTGCCGGCCGTCAGTGTGAGCACCCCAGGACGTTGGGAGGGCCCGAGAGGCAAGCAGGGCCGGGCGAGGGGATACAGATGCCTATGTCCAAGCTATCGGGGCAGAAAAGGCCACAGTGCCTGGGCTGCGGGTGTCGGGCCACCAAGCTGGGACTGAGGTCAGGAGGCAGCTCCAAGCCCACGTCCCCAGTACACGAGCAGCCCTGCAGCCCGACTCCTCCAAGGACAGAGATACCCAGATCTGGCTTCCTGGTCTATGCCATGGACGTAGAGAAGGGGACTGGCCCCTAGGCCAGGTGGGGTCTCTTGGCTGAGGCCCAGCTGAAAGCAGGGTCTGGAGGCAGCCAGGGTAAAGGTGGGGGTGCCCAGAGCTGCGAGGGCCTCCAGCCCACCCAGGCATGCCCACTGTGCCCACCTGCCTGTGTCCTCGTGGAGGGCTCCATGTTGCTGCTCTGCCTTGGGTCCCAGCGAGGCCTGGTCACCACTTCCCGTCCCCAGGCAGGGATGTCAGGCAAGCACTGTGCCCTGGGGGAGGGAGAGTGCCCTGCGTTTCCCGCCTCCCTTCCCCCCTGCCCCTCATGACAGACTGACAGACACAGAGCTGAGTGGGCAGATTGGGGCATCCATGAGGATAGCATCTGGGACCTGGCGGCGACCCCAGCCCTGCCCATTAGACCTCCCAGCCTCAGGCCTGGGCGCTTGTCTGGCTGTGCCGGGCAGAGGCCTGAGTGTGGTGGGTAAAGGGGCAAGGCTCTGAGATGGGGGTAGAGGGCCAGACCCCAGGCCCACCCCTGTGTCACCCAAGCCCACGCTGATGACACAGCCCTGCATCCCCTGCTCCCAGAGAATGTTCCAGGGACCTAGGAGAGAGCCACCCGGCAGGCAGGGAGGCTCCGGGGAATTCGCCGTGAACAGAGGCCGCCATGCTGTGGCCAAGCTGCATTGTCAGCCAGCGTCAGGCAGGAGGTGGCTCCGGCAGAGCTTGGGGACAGATGGGCAGGGCTGAGGGCCTGATGCCACCCAGCTGTCAGGAGGGCGGGGCTCGCCTGGTGATGCACAGCTCAGTCTCCTGGGCAGTGAGGGTCCCGTGGGCAGGCAGGATCTCTGAGGGGCCACGGCCCCCCAGCTCCTGGGCCCCAGGCCGCCCCTCACTGCCAGGGGTTGCAGGACCTGCAGCATCCAGCACCTGGAGCGGGCGGGCGAGAACCTGTCCCTCCTGACCTCCTTCTACTTCTGCATCGTCACCTTCTCCACCGTGGGCTACGGTGACGTCACGCCCAAGATCTGGCCATCGCAGCTGCTGGTGGTCATCATGATCTGCGTGGCCCTCGTGGTGCTCCCACTGCAGGTGGGTCCTCTGGGCACCAGCCCTGGGTGGCACCAGCAAAGGGACAGGCGGGTGCCAGTAGAGGGAGGGTGCCACTGAGGCTGTGGCACAGTGCGGGGGCCACTCCCAGGAGGGGACAGTGAGGCCAGGCGGGTGGTGCCTGCTCCGTTGCACGCCCCCACTGAGGGTCTACGGCGGGTCCGGTGGTGCTCAGCATGGTGGGTAATGATGGAGTCCCGTGAGCTGGCCTCTTCCTTCTGGGGAGATGGTGGGTCTCCAGTGCCAGGGTGACCTGCCCCTCCCAGGCCCAGGCAGAGTGCAGGGAAGGGTCAAGGTGGACAGCCGGCCCATTTCCCATCCACAGCCAGGTGCAGCAGCAGCTGCCAGGCCCACAGGGGGCACACCCCCCCGGCCACCCCAGTGGCTTCCCCGTCACCACTGCTGTGGCCCACTGCCCACTGAGCAGAGGAGGGGACGGGGCAAGACCTCAGTGGGAAAGGTGGAGGCCTGGAGAGGGCAGCTGCCTCAGGGTGTGAAGTGCTTGGGCCTGGACTGCCTCCGACACCTCCTCCAGGCACCCCAGCCCACCCTGGAGGGACCCTGCTATTGGGGAGATGGGAGAAGGAGGGGACCCCTGTGGGTGGTGGAACATTTTCCAGGAGGCTGGGTAGGAGGAAGAGCCTGAGGAGGTGGCCAGGGCCTTCTGGGAGACAGACCCCCAGGTGGCTGCAGGATGCCGGGGAGACAGGGCAGTGCTCCTAGGGAGCCTCTGCTGACCCCAGGCTCAGCCCCAGCTCCCTCCCGCTAAACAGCAGTGGGCGTGGCCCAGGTATGGGCCCAGGCCAGGCCTGGCTCTTCTCCTCACTATATCCAAGCCAAAGCTGTGGCACCAGCTGTACGGCCCCCAGCGTGGGCCATGTTCTCCACATCTGTGGCTTCTGTTCTCCTGAGTTCAGATGGGGCCGTGCGCGTCTTTCCATCTGGTTGTCGGCCACTCCACCGTCCAGTGCCACGAGTCCCGCTCCTGTGAGCTGCCCGCTCCTCTTTGGTCTTCCCCCTGGTTCTCGCTGATGAGCGAGTCTCTGTGTTCTAGAAGAAGCCAGTTGTGTGTGGCTTTCCCGTTACTTCCTGCTCTGTGACCGCCCCTCTCACTTTGCTTACAGAATCTTCCATTCACGGATGGTCTTGATTTTTTTTTTTTAAATTAGAGATAGGGTCTCACTCTCATTTTGTTGCCCAGGCTGGCCTCGAACTCCTGGGCTCAAGCGATCCTCCCGCCTCAGCCCCAGAAATAGCTGGGATTACAGGCGGCTTGGCTTTGATTCACCAATCTTTCCCTTATGGTTTCTGTTTTCCTGTCTTTACTGAAAAGATCATTCCCTCCCTCGATCATAAACCTGGCTTCCTATTTTCTTCTAAAAGTGTAAAGCTCGCCTCTCACCTGGAGGGTTTCACCCACCAGGAACCACCATGTGGGGTGGGGTGGAGCTGGGTTCTCCCCTCTGACGCCTGCTCCCCCACACCCTGCATTCTGCTCCTTTCTCTGCGCATTTCATAACCAGGCAAGGGCGGGAGTGAGGGTGGGAGTGAGGCCAGGAGCACAGTGTGGGGGGCACTCCGTGCAGTGACACTGCCTCCCTCCTCGGCCCTCCTGCCCCAATCCGTAAATCTCACCTCAAATTCTTTACCTTAATTACTTCTGCAAAGACCCTTTTGCAAATGAGGACTCATCCTGAGGTGCAGGGGGACCTGCTTTCAGGGCCATCCTTGACCTTGCTACGGGCCCCCAGCCTCCGTCCCTGGTCCGCCCCGGCCCACACTTCACCACGTGGCCGGCACCTGCTGAGGCCGCTGCACCCAGATGCTCTGCAGAGGCGTTGACCCATCCAGTCTCT
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Task1_train_13474
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This genomic variant is located on Chromosome 9, within the KCNT1 (potassium sodium-activated channel subfamily T member 1) gene. Can you determine its pathogenicity and name any linked disease?
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Pathogenic; Autosomal dominant nocturnal frontal lobe epilepsy 5
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GAGGAGGGACAAAGTGAAGGGTGTGACAAACCCAGGCCACGAGGACCAGGGCCACAAACACCAGGCCACACGCAAACTGGGGCCACGGGGCCACAGGCAGGCCCTGTGCTGAGCATCTCAGGAAACCTGGGCCACGGGGCCACAGGCAGGCCCTGCTCTGAGTGTCTCAACATGGTCCCTGTCATGTGAATGGCAGCAGTCAGTTCCCTAGGCGCCCACCCTCTCCAAGCCAGACCCCTTGACTCACAGCCCCCATTCCTGCCCCAGTGGTAAATCAGCGTTACCATGCTGGGTCCAAGCCTTGCACACTAACCAGCCCTCTGACCTGAGACTTAAGCCTCATCCCCGGGGATGTAGGCAAGATGGGGACCCGTCCTGAGAGAGGACAGCAGAGGGGGTGCCCTACCCAGGTGCAGGCTGCCCGTGGGCCTCAGCGGAGACGCAGGTGTGGCCAGGCGTGGGCTGCCCCTTGGGCCTCAGCCGAGACACAGGTGTGGCCGTGGGCTGCCCCGTGGGCCTCAGCCGAGACACAGGTGTGGCCAGGTGCAGGCTGCCCCGTGGGCCTCAGCCGAGACGCAGGTGTGGCCAGGTGCAGGCTGCCCCATGGGCCTCAGCCGAGACACAGGTGTGGCCAGGTACAGGCTGCCCCGTGGGCCTCAGCCGAGACGCAGGTGTGGCCGGGCCGTCTGCTTTCCACTGTCCTTCTAGTCTCTATTCATTGGCTCCTGGCGGGGTCCACAGTCCCTGCCCGCTGACAGCCACCACTCCTTCCACAGAATGACTTCCACCGTGCCATCCTGCGGACACAGTCAGCCATGTTCAACCAGGTCCTCATCCTCTTCTGCACCCTGCTGTGCCTCGTTTTCACGGGGTGAGTGCCGGCCGTCAGTGTGAGCACCCCAGGACGTTGGGAGGGCCCGAGAGGCAAGCAGGGCCGGGCGAGGGGATACAGATGCCTATGTCCAAGCTATCGGGGCAGAAAAGGCCACAGTGCCTGGGCTGCGGGTGTCGGGCCACCAAGCTGGGACTGAGGTCAGGAGGCAGCTCCAAGCCCACGTCCCCAGTACACGAGCAGCCCTGCAGCCCGACTCCTCCAAGGACAGAGATACCCAGATCTGGCTTCCTGGTCTATGCCATGGACGTAGAGAAGGGGACTGGCCCCTAGGCCAGGTGGGGTCTCTTGGCTGAGGCCCAGCTGAAAGCAGGGTCTGGAGGCAGCCAGGGTAAAGGTGGGGGTGCCCAGAGCTGCGAGGGCCTCCAGCCCACCCAGGCATGCCCACTGTGCCCACCTGCCTGTGTCCTCGTGGAGGGCTCCATGTTGCTGCTCTGCCTTGGGTCCCAGCGAGGCCTGGTCACCACTTCCCGTCCCCAGGCAGGGATGTCAGGCAAGCACTGTGCCCTGGGGGAGGGAGAGTGCCCTGCGTTTCCCGCCTCCCTTCCCCCCTGCCCCTCATGACAGACTGACAGACACAGAGCTGAGTGGGCAGATTGGGGCATCCATGAGGATAGCATCTGGGACCTGGCGGCGACCCCAGCCCTGCCCATTAGACCTCCCAGCCTCAGGCCTGGGCGCTTGTCTGGCTGTGCCGGGCAGAGGCCTGAGTGTGGTGGGTAAAGGGGCAAGGCTCTGAGATGGGGGTAGAGGGCCAGACCCCAGGCCCACCCCTGTGTCACCCAAGCCCACGCTGATGACACAGCCCTGCATCCCCTGCTCCCAGAGAATGTTCCAGGGACCTAGGAGAGAGCCACCCGGCAGGCAGGGAGGCTCCGGGGAATTCGCCGTGAACAGAGGCCGCCATGCTGTGGCCAAGCTGCATTGTCAGCCAGCGTCAGGCAGGAGGTGGCTCCGGCAGAGCTTGGGGACAGATGGGCAGGGCTGAGGGCCTGATGCCACCCAGCTGTCAGGAGGGCGGGGCTCGCCTGGTGATGCACAGCTCAGTCTCCTGGGCAGTGAGGGTCCCGTGGGCAGGCAGGATCTCTGAGGGGCCACGGCCCCCCAGCTCCTGGGCCCCAGGCCGCCCCTCACTGCCAGGGGTTGCAGGACCTGCGGCATCCAGCACCTGGAGCGGGCGGGCGAGAACCTGTCCCTCCTGACCTCCTTCTACTTCTGCATCGTCACCTTCTCCACCGTGGGCTACGGTGACGTCACGCCCAAGATCTGGCCATCGCAGCTGCTGGTGGTCATCATGATCTGCGTGGCCCTCGTGGTGCTCCCACTGCAGGTGGGTCCTCTGGGCACCAGCCCTGGGTGGCACCAGCAAAGGGACAGGCGGGTGCCAGTAGAGGGAGGGTGCCACTGAGGCTGTGGCACAGTGCGGGGGCCACTCCCAGGAGGGGACAGTGAGGCCAGGCGGGTGGTGCCTGCTCCGTTGCACGCCCCCACTGAGGGTCTACGGCGGGTCCGGTGGTGCTCAGCATGGTGGGTAATGATGGAGTCCCGTGAGCTGGCCTCTTCCTTCTGGGGAGATGGTGGGTCTCCAGTGCCAGGGTGACCTGCCCCTCCCAGGCCCAGGCAGAGTGCAGGGAAGGGTCAAGGTGGACAGCCGGCCCATTTCCCATCCACAGCCAGGTGCAGCAGCAGCTGCCAGGCCCACAGGGGGCACACCCCCCCGGCCACCCCAGTGGCTTCCCCGTCACCACTGCTGTGGCCCACTGCCCACTGAGCAGAGGAGGGGACGGGGCAAGACCTCAGTGGGAAAGGTGGAGGCCTGGAGAGGGCAGCTGCCTCAGGGTGTGAAGTGCTTGGGCCTGGACTGCCTCCGACACCTCCTCCAGGCACCCCAGCCCACCCTGGAGGGACCCTGCTATTGGGGAGATGGGAGAAGGAGGGGACCCCTGTGGGTGGTGGAACATTTTCCAGGAGGCTGGGTAGGAGGAAGAGCCTGAGGAGGTGGCCAGGGCCTTCTGGGAGACAGACCCCCAGGTGGCTGCAGGATGCCGGGGAGACAGGGCAGTGCTCCTAGGGAGCCTCTGCTGACCCCAGGCTCAGCCCCAGCTCCCTCCCGCTAAACAGCAGTGGGCGTGGCCCAGGTATGGGCCCAGGCCAGGCCTGGCTCTTCTCCTCACTATATCCAAGCCAAAGCTGTGGCACCAGCTGTACGGCCCCCAGCGTGGGCCATGTTCTCCACATCTGTGGCTTCTGTTCTCCTGAGTTCAGATGGGGCCGTGCGCGTCTTTCCATCTGGTTGTCGGCCACTCCACCGTCCAGTGCCACGAGTCCCGCTCCTGTGAGCTGCCCGCTCCTCTTTGGTCTTCCCCCTGGTTCTCGCTGATGAGCGAGTCTCTGTGTTCTAGAAGAAGCCAGTTGTGTGTGGCTTTCCCGTTACTTCCTGCTCTGTGACCGCCCCTCTCACTTTGCTTACAGAATCTTCCATTCACGGATGGTCTTGATTTTTTTTTTTTAAATTAGAGATAGGGTCTCACTCTCATTTTGTTGCCCAGGCTGGCCTCGAACTCCTGGGCTCAAGCGATCCTCCCGCCTCAGCCCCAGAAATAGCTGGGATTACAGGCGGCTTGGCTTTGATTCACCAATCTTTCCCTTATGGTTTCTGTTTTCCTGTCTTTACTGAAAAGATCATTCCCTCCCTCGATCATAAACCTGGCTTCCTATTTTCTTCTAAAAGTGTAAAGCTCGCCTCTCACCTGGAGGGTTTCACCCACCAGGAACCACCATGTGGGGTGGGGTGGAGCTGGGTTCTCCCCTCTGACGCCTGCTCCCCCACACCCTGCATTCTGCTCCTTTCTCTGCGCATTTCATAACCAGGCAAGGGCGGGAGTGAGGGTGGGAGTGAGGCCAGGAGCACAGTGTGGGGGGCACTCCGTGCAGTGACACTGCCTCCCTCCTCGGCCCTCCTGCCCCAATCCGTAAATCTCACCTCAAATTCTTTACCTTAATTACTTCTGCAAAGACCCTTTTGCAAATGAGGACTCATCCTGAGGTGCAGGGGGACCTGCTTTCAGGGCCATCCTTGACCTTGCTACGGGCCCCCAGCCTCCGTCCCTGGTCCGCCCCGGCCCACACTTCACCACGTGGCCGGCACCTGCTGAGGCCGCTGCACCCAGATGCTCTGCAGAGGCGTTGACCCATCCAGTCTCT
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GAGGAGGGACAAAGTGAAGGGTGTGACAAACCCAGGCCACGAGGACCAGGGCCACAAACACCAGGCCACACGCAAACTGGGGCCACGGGGCCACAGGCAGGCCCTGTGCTGAGCATCTCAGGAAACCTGGGCCACGGGGCCACAGGCAGGCCCTGCTCTGAGTGTCTCAACATGGTCCCTGTCATGTGAATGGCAGCAGTCAGTTCCCTAGGCGCCCACCCTCTCCAAGCCAGACCCCTTGACTCACAGCCCCCATTCCTGCCCCAGTGGTAAATCAGCGTTACCATGCTGGGTCCAAGCCTTGCACACTAACCAGCCCTCTGACCTGAGACTTAAGCCTCATCCCCGGGGATGTAGGCAAGATGGGGACCCGTCCTGAGAGAGGACAGCAGAGGGGGTGCCCTACCCAGGTGCAGGCTGCCCGTGGGCCTCAGCGGAGACGCAGGTGTGGCCAGGCGTGGGCTGCCCCTTGGGCCTCAGCCGAGACACAGGTGTGGCCGTGGGCTGCCCCGTGGGCCTCAGCCGAGACACAGGTGTGGCCAGGTGCAGGCTGCCCCGTGGGCCTCAGCCGAGACGCAGGTGTGGCCAGGTGCAGGCTGCCCCATGGGCCTCAGCCGAGACACAGGTGTGGCCAGGTACAGGCTGCCCCGTGGGCCTCAGCCGAGACGCAGGTGTGGCCGGGCCGTCTGCTTTCCACTGTCCTTCTAGTCTCTATTCATTGGCTCCTGGCGGGGTCCACAGTCCCTGCCCGCTGACAGCCACCACTCCTTCCACAGAATGACTTCCACCGTGCCATCCTGCGGACACAGTCAGCCATGTTCAACCAGGTCCTCATCCTCTTCTGCACCCTGCTGTGCCTCGTTTTCACGGGGTGAGTGCCGGCCGTCAGTGTGAGCACCCCAGGACGTTGGGAGGGCCCGAGAGGCAAGCAGGGCCGGGCGAGGGGATACAGATGCCTATGTCCAAGCTATCGGGGCAGAAAAGGCCACAGTGCCTGGGCTGCGGGTGTCGGGCCACCAAGCTGGGACTGAGGTCAGGAGGCAGCTCCAAGCCCACGTCCCCAGTACACGAGCAGCCCTGCAGCCCGACTCCTCCAAGGACAGAGATACCCAGATCTGGCTTCCTGGTCTATGCCATGGACGTAGAGAAGGGGACTGGCCCCTAGGCCAGGTGGGGTCTCTTGGCTGAGGCCCAGCTGAAAGCAGGGTCTGGAGGCAGCCAGGGTAAAGGTGGGGGTGCCCAGAGCTGCGAGGGCCTCCAGCCCACCCAGGCATGCCCACTGTGCCCACCTGCCTGTGTCCTCGTGGAGGGCTCCATGTTGCTGCTCTGCCTTGGGTCCCAGCGAGGCCTGGTCACCACTTCCCGTCCCCAGGCAGGGATGTCAGGCAAGCACTGTGCCCTGGGGGAGGGAGAGTGCCCTGCGTTTCCCGCCTCCCTTCCCCCCTGCCCCTCATGACAGACTGACAGACACAGAGCTGAGTGGGCAGATTGGGGCATCCATGAGGATAGCATCTGGGACCTGGCGGCGACCCCAGCCCTGCCCATTAGACCTCCCAGCCTCAGGCCTGGGCGCTTGTCTGGCTGTGCCGGGCAGAGGCCTGAGTGTGGTGGGTAAAGGGGCAAGGCTCTGAGATGGGGGTAGAGGGCCAGACCCCAGGCCCACCCCTGTGTCACCCAAGCCCACGCTGATGACACAGCCCTGCATCCCCTGCTCCCAGAGAATGTTCCAGGGACCTAGGAGAGAGCCACCCGGCAGGCAGGGAGGCTCCGGGGAATTCGCCGTGAACAGAGGCCGCCATGCTGTGGCCAAGCTGCATTGTCAGCCAGCGTCAGGCAGGAGGTGGCTCCGGCAGAGCTTGGGGACAGATGGGCAGGGCTGAGGGCCTGATGCCACCCAGCTGTCAGGAGGGCGGGGCTCGCCTGGTGATGCACAGCTCAGTCTCCTGGGCAGTGAGGGTCCCGTGGGCAGGCAGGATCTCTGAGGGGCCACGGCCCCCCAGCTCCTGGGCCCCAGGCCGCCCCTCACTGCCAGGGGTTGCAGGACCTGCAGCATCCAGCACCTGGAGCGGGCGGGCGAGAACCTGTCCCTCCTGACCTCCTTCTACTTCTGCATCGTCACCTTCTCCACCGTGGGCTACGGTGACGTCACGCCCAAGATCTGGCCATCGCAGCTGCTGGTGGTCATCATGATCTGCGTGGCCCTCGTGGTGCTCCCACTGCAGGTGGGTCCTCTGGGCACCAGCCCTGGGTGGCACCAGCAAAGGGACAGGCGGGTGCCAGTAGAGGGAGGGTGCCACTGAGGCTGTGGCACAGTGCGGGGGCCACTCCCAGGAGGGGACAGTGAGGCCAGGCGGGTGGTGCCTGCTCCGTTGCACGCCCCCACTGAGGGTCTACGGCGGGTCCGGTGGTGCTCAGCATGGTGGGTAATGATGGAGTCCCGTGAGCTGGCCTCTTCCTTCTGGGGAGATGGTGGGTCTCCAGTGCCAGGGTGACCTGCCCCTCCCAGGCCCAGGCAGAGTGCAGGGAAGGGTCAAGGTGGACAGCCGGCCCATTTCCCATCCACAGCCAGGTGCAGCAGCAGCTGCCAGGCCCACAGGGGGCACACCCCCCCGGCCACCCCAGTGGCTTCCCCGTCACCACTGCTGTGGCCCACTGCCCACTGAGCAGAGGAGGGGACGGGGCAAGACCTCAGTGGGAAAGGTGGAGGCCTGGAGAGGGCAGCTGCCTCAGGGTGTGAAGTGCTTGGGCCTGGACTGCCTCCGACACCTCCTCCAGGCACCCCAGCCCACCCTGGAGGGACCCTGCTATTGGGGAGATGGGAGAAGGAGGGGACCCCTGTGGGTGGTGGAACATTTTCCAGGAGGCTGGGTAGGAGGAAGAGCCTGAGGAGGTGGCCAGGGCCTTCTGGGAGACAGACCCCCAGGTGGCTGCAGGATGCCGGGGAGACAGGGCAGTGCTCCTAGGGAGCCTCTGCTGACCCCAGGCTCAGCCCCAGCTCCCTCCCGCTAAACAGCAGTGGGCGTGGCCCAGGTATGGGCCCAGGCCAGGCCTGGCTCTTCTCCTCACTATATCCAAGCCAAAGCTGTGGCACCAGCTGTACGGCCCCCAGCGTGGGCCATGTTCTCCACATCTGTGGCTTCTGTTCTCCTGAGTTCAGATGGGGCCGTGCGCGTCTTTCCATCTGGTTGTCGGCCACTCCACCGTCCAGTGCCACGAGTCCCGCTCCTGTGAGCTGCCCGCTCCTCTTTGGTCTTCCCCCTGGTTCTCGCTGATGAGCGAGTCTCTGTGTTCTAGAAGAAGCCAGTTGTGTGTGGCTTTCCCGTTACTTCCTGCTCTGTGACCGCCCCTCTCACTTTGCTTACAGAATCTTCCATTCACGGATGGTCTTGATTTTTTTTTTTTAAATTAGAGATAGGGTCTCACTCTCATTTTGTTGCCCAGGCTGGCCTCGAACTCCTGGGCTCAAGCGATCCTCCCGCCTCAGCCCCAGAAATAGCTGGGATTACAGGCGGCTTGGCTTTGATTCACCAATCTTTCCCTTATGGTTTCTGTTTTCCTGTCTTTACTGAAAAGATCATTCCCTCCCTCGATCATAAACCTGGCTTCCTATTTTCTTCTAAAAGTGTAAAGCTCGCCTCTCACCTGGAGGGTTTCACCCACCAGGAACCACCATGTGGGGTGGGGTGGAGCTGGGTTCTCCCCTCTGACGCCTGCTCCCCCACACCCTGCATTCTGCTCCTTTCTCTGCGCATTTCATAACCAGGCAAGGGCGGGAGTGAGGGTGGGAGTGAGGCCAGGAGCACAGTGTGGGGGGCACTCCGTGCAGTGACACTGCCTCCCTCCTCGGCCCTCCTGCCCCAATCCGTAAATCTCACCTCAAATTCTTTACCTTAATTACTTCTGCAAAGACCCTTTTGCAAATGAGGACTCATCCTGAGGTGCAGGGGGACCTGCTTTCAGGGCCATCCTTGACCTTGCTACGGGCCCCCAGCCTCCGTCCCTGGTCCGCCCCGGCCCACACTTCACCACGTGGCCGGCACCTGCTGAGGCCGCTGCACCCAGATGCTCTGCAGAGGCGTTGACCCATCCAGTCTCT
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Task1_train_13475
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This is a variant in KCNT1 (potassium sodium-activated channel subfamily T member 1), located on Chromosome 9. Is this mutation a likely cause of disease or not?
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Pathogenic; Developmental and epileptic encephalopathy, 14
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CACTGCCTGACTGCCTTGTCTCCTTTCTCCCGTGTGGGGCAGGCAGAGCAGGCCCTGAGTGGGACAAGCTCTGAGCGAGGCAGGGAGGAAGGCGGGGGCAGGGCCTGGGGGCTGGCGCACCCTCCCTCCCATCAGCCCTGCCGGACCTGGTGCTCAAACCTGACCCAGGTGGGCCTGTGCTGTCCCTGGCAGGGCTGGGGGTGATTGGGACAGTGATGCCGCTGACCCCACCGTCTAAGCCGCTCCCTGCCTCCTCCGAATGACTGGAAAGACTGAGCCTCTCACTGGCGATGGTAAGGGTGGGCTGCAGTGCCCTTGCCCTTGGTCTCCACTGGGCTGAATGCACCAGTAAAAGCCCTTGAAGCAGAGTGATGACCCCGAGGCCCTCGCTCACGAGCGTCCTTCTGGAACACAGCAGCGCCGGCTGGGTCTCCTGGAAGTATCCTCCAGGCTCTTCGATCAGCAAGACAGACAGGCAGCTTAAACAGCAGATATGTATCCTCCGCCAGCCCTGGAGGACAGAATCGGAAGTGGAGGGGTTGGCAGGGCTGACCCTATCAGGCCGCTTTGGGGGAGATTGTCCCATGCCTCTCTCCAGCTTCTGGTGGGGCCGCAATCCCTGGGGCTGCTTCTACGGTGGCTGTAGAAACCTCAGCCTCTGCCCCGTGTGCACTTGGCCTCTTCTCTGTACCTCTCACTGGATTTAGGGCCCACTCCAACCCAGGGTGACCTTATCTTAAATCATTACATCTGCAGAGACCTATTTCCAATCAGATCACATGGCGAGGTTCTGGGCAGATAGGACTTTTAGGGTCACTACGGAGCTGCCGTCATTAGCTCCTTCATCCTCACGGCGGCCCTGGAGGGTTGCCGTGCCATGCAGCCATCTTGTAGGTGAGGAAGCTGAGGCTCAGAGTGGGGGACGTGAGCCCTGGGGTGTCTGACAGCAGAGCCCCCGCCAGCACCATCCGCGGGGAAGCCTCTGTTCCGGTCGCCCTGGAGTCTTGAGCACCTCCCAGCTGTGGAAACTGTTTTGTGTGGCAAGGCAGTGGAGCCTCGTCACCGGAACAAAGCAGGCGCTGGATAAGTGCAATGCGATGGTCCCATTTAGACCAGACGATAGCACATCAGCCATGCAGCCCACAGTCCATGGGAGCTCCTGCCATTGTTCATTTAACACGTGTTCAACAAGCCGGGCACCATGACTCAGCCTGTAATCCCAGCACTTCAGGACGACAAGGCAGGAGGATCGCTTGAGCCCAGGAGTTCGAGACCAGCCTGGGCAATGTAGTGAGACCCCATCTCTACAAAAAATAAAAATAAAACTAGCTGGTCATGGTGGTGATGCACCTAGAATCCCAGCTACTCAGGAGGTTGAGGCAGGAGGATGGCTTGAGCCCGGGAAGTCAAGGCTGCAGTGAGCTGTGATTGCACCACGGCACTCCAGCCTGGGTGACAGAGTGAGCCTCCGTCTCAAAAAAAAGAAAAGCCAAAGACTTTCACCTAGAGGCCAGTGGGGCCGGTGCTGGGAGGCCCCGGTGGCCTCTGTTTTGGATCTGTCCCCTTTGAGTCTCAACACCCAGAGCTTGCATCTGGGGAGCATGAGCCAGGGCAGGCAGCATCCTCAGACCAGCAGCCTCAAACCACCTGCCCCCCAGACATAGGCTCCTGACAGTGAGGCCTGCGAGTGCCTGGAAGACCGGGGTCTGAGGCCTGATTTGGCCACGCTTACCATCAAGAGAGTGATCCCCAATCCCACGGGCTGAGCCTCCCCACCCTCGGTTTACTCCACAGTCTCCAGCCGCCCCTCCTCCCTTGGTCCCCACACATCCTGCCAGCCGGGCCTGCGTCCTGCTCTGTGTCATCTGAGGCTATCAGCATCTACAGTTTCCATGTGGGAAAGGCCCCCCTAATGTAGGTGTCACCCCCCGGCCGGCCCTGCCCCAGGCCCCTAACAGACAGTCGTGTGTCAGGGCCCAGGTTCTTCACCGGGAGCCCTCGCTCCCCAGGCCTGGTCGCTGGTGCTCACCTGTTTCTCACCTGCAGTTCGAGGAGCTCGTCTACCTCTGGATGGAGCGGCAGAAGTCAGGGGGCAACTACAGCCGCCACCGTGCGCAGACGGAGAAGCACGTGGTCCTGTGTGTCAGCTCCCTCAAGATCGACCTTCTCATGGACTTCCTGAACGAGTTCTACGCCCACCCCCGGCTCCAGGTGAGGCCCCTTACCGTGGCCCAGCAGACGACTCCCTCCCGGCCCCTAGAGACGCCATCCTCTCCCCAGGACTGCTTGGCAAGTCCCTGAGTCCTCTCAGCCTTGGTTTACCCCTTCAGTGAGGGCAGATGCCTCCCTCCCGGCGCCCAGAGACGCCATCCTCTCCCCAGGACTGCCATCCTCTCCCCAGGACTGCTTGGCAAGTCCCTGAGTCCTCTCAGCCTCAGTTTACCCCTTCAGTGAGGGTGGCAGCCCACAGTCAGGTGGAGGGGCCCTGCGGGGGCCCCTCTTTTCCCTCCCACCAGATGCAAGATCACAGTGAGCTCTAGGGCCCAGAGGTGGTGGGCACAAACACAGTCCTGAAGGCAGGGCCGCCCGGGCGGGGCAGGGGCTGGCTCAGAGGGTCTGACCCTCCGCCTGGCCGGCAGGACTATTACGTGGTCATCCTGTGCCCCACGGAGATGGATGTCCAGGTGCGCAGAGTCCTGCAGATCCCTCTGTGGTCCCAGCGGGTCATCTACCTCCAGGGCTCTGCACTCAAAGACCAGGACCTCATGCGAGCCAAGTGAGTGCTGGTGGGCGGAGGGGGTGGCATGGGGGCACCTTCCTGAGTCAGGTCGGCTGCTCAGGGCTGAGGCATTGACCGTCGCTCTCCTGGCCAATGAGAGCCATGAGAGCATTATAGACTATCCCCAGGGTGGACCATCTAGGTGGACTGTCCAGGGTGGATCGTCCGGGGTGGACCATTTAGGGTGGATCGTCTGGGGTGGACCATTCAGGGTGGACCTTCTGGGATGGACCATTTAGGTGGACCATACAGGGTGGATCATCTGGAGTGAACTGTCAAGGGTGGACCATCCAGGGTGGACCATCTGGGGTGGACCATCTAGGATGGACTGTCTGGGGTGGACCATTCAGGGTAGACCTTCTGGGATGGACCATTTAGTGTGGACCATCCAGGGTGGATTGTCTAGGGTGGGTCATCTGGGGTGAACTGTCCAGGGGGGACCATCCAGGGTGGGTCATCTGGGATGGACTGTTCAGGGTGGACCATCCAGTGTAGATCATGTGGGGTGGACCATCTAGGGTAGACTGTCCAGGGTGGACCATCTGGGGTGGGCTGTCTGGGGTGGGCCATTCAGAGTGAACCATCTGGGATGGATCTCTAGGGTGGACCATCCAGGGTGGATCATCTGGGGTGGACCATTCAAGGTGGACCATCTAGGGTGGACCATCTGGGGTTGGTCCTCTGGGGTAGATCATCAGGGGCGGACCGTCTGGGGTATACCCTCTGGGGTTGTCTGGGGTGGGCCATCCATGGTGGACCCTCTTGGGTGGACCATCTGGGGTGGATCGTCTGGGGTGGACCATCCATGGTGGACCCTCTTGGGTGGACCGTCTGGGGTGGATCATCCAGGGTGGACTGTCTGGGGTGGACCCTCTGGGGTGGATTGTCTGGGGTAGACTGTCCGGGGCCTCTTGCAGTTTCTCTAGCTCAGGTCCCAGGCCCAGATGAGCAGGACCCTGCAGCCAGGCCCTTGTCCCTGCACCATACCCACTGTGGAGCAGCCCAGGCAAGCCCAACCCAGCTAAGTCTCTGTCTCCCTTTTCAGGGTGAGGGGCAGCCTTTTGCGAGCTCCACCTTCCCCTGCTCCAAGTCTAGGGAAATCTTTGTCAAGTTCTAGGGAGGCTCAAAATAGAACAGGGGCGGGAGAGTCAGCTGCTGTGAGTCAAGGTGGGAGAACGGGCTGAAGGTAGAGTTCCTTTTAAAGACAAATTGACAGAGTGACAAGGTAACAAGAGTATATTATTACCTGGAACTTTCCAGAATGTGTCGGTGCACTTTCTGGGACACTCCCTGGAAAACCCTCCTGGTGACATTTTC
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CACTGCCTGACTGCCTTGTCTCCTTTCTCCCGTGTGGGGCAGGCAGAGCAGGCCCTGAGTGGGACAAGCTCTGAGCGAGGCAGGGAGGAAGGCGGGGGCAGGGCCTGGGGGCTGGCGCACCCTCCCTCCCATCAGCCCTGCCGGACCTGGTGCTCAAACCTGACCCAGGTGGGCCTGTGCTGTCCCTGGCAGGGCTGGGGGTGATTGGGACAGTGATGCCGCTGACCCCACCGTCTAAGCCGCTCCCTGCCTCCTCCGAATGACTGGAAAGACTGAGCCTCTCACTGGCGATGGTAAGGGTGGGCTGCAGTGCCCTTGCCCTTGGTCTCCACTGGGCTGAATGCACCAGTAAAAGCCCTTGAAGCAGAGTGATGACCCCGAGGCCCTCGCTCACGAGCGTCCTTCTGGAACACAGCAGCGCCGGCTGGGTCTCCTGGAAGTATCCTCCAGGCTCTTCGATCAGCAAGACAGACAGGCAGCTTAAACAGCAGATATGTATCCTCCGCCAGCCCTGGAGGACAGAATCGGAAGTGGAGGGGTTGGCAGGGCTGACCCTATCAGGCCGCTTTGGGGGAGATTGTCCCATGCCTCTCTCCAGCTTCTGGTGGGGCCGCAATCCCTGGGGCTGCTTCTACGGTGGCTGTAGAAACCTCAGCCTCTGCCCCGTGTGCACTTGGCCTCTTCTCTGTACCTCTCACTGGATTTAGGGCCCACTCCAACCCAGGGTGACCTTATCTTAAATCATTACATCTGCAGAGACCTATTTCCAATCAGATCACATGGCGAGGTTCTGGGCAGATAGGACTTTTAGGGTCACTACGGAGCTGCCGTCATTAGCTCCTTCATCCTCACGGCGGCCCTGGAGGGTTGCCGTGCCATGCAGCCATCTTGTAGGTGAGGAAGCTGAGGCTCAGAGTGGGGGACGTGAGCCCTGGGGTGTCTGACAGCAGAGCCCCCGCCAGCACCATCCGCGGGGAAGCCTCTGTTCCGGTCGCCCTGGAGTCTTGAGCACCTCCCAGCTGTGGAAACTGTTTTGTGTGGCAAGGCAGTGGAGCCTCGTCACCGGAACAAAGCAGGCGCTGGATAAGTGCAATGCGATGGTCCCATTTAGACCAGACGATAGCACATCAGCCATGCAGCCCACAGTCCATGGGAGCTCCTGCCATTGTTCATTTAACACGTGTTCAACAAGCCGGGCACCATGACTCAGCCTGTAATCCCAGCACTTCAGGACGACAAGGCAGGAGGATCGCTTGAGCCCAGGAGTTCGAGACCAGCCTGGGCAATGTAGTGAGACCCCATCTCTACAAAAAATAAAAATAAAACTAGCTGGTCATGGTGGTGATGCACCTAGAATCCCAGCTACTCAGGAGGTTGAGGCAGGAGGATGGCTTGAGCCCGGGAAGTCAAGGCTGCAGTGAGCTGTGATTGCACCACGGCACTCCAGCCTGGGTGACAGAGTGAGCCTCCGTCTCAAAAAAAAGAAAAGCCAAAGACTTTCACCTAGAGGCCAGTGGGGCCGGTGCTGGGAGGCCCCGGTGGCCTCTGTTTTGGATCTGTCCCCTTTGAGTCTCAACACCCAGAGCTTGCATCTGGGGAGCATGAGCCAGGGCAGGCAGCATCCTCAGACCAGCAGCCTCAAACCACCTGCCCCCCAGACATAGGCTCCTGACAGTGAGGCCTGCGAGTGCCTGGAAGACCGGGGTCTGAGGCCTGATTTGGCCACGCTTACCATCAAGAGAGTGATCCCCAATCCCACGGGCTGAGCCTCCCCACCCTCGGTTTACTCCACAGTCTCCAGCCGCCCCTCCTCCCTTGGTCCCCACACATCCTGCCAGCCGGGCCTGCGTCCTGCTCTGTGTCATCTGAGGCTATCAGCATCTACAGTTTCCATGTGGGAAAGGCCCCCCTAATGTAGGTGTCACCCCCCGGCCGGCCCTGCCCCAGGCCCCTAACAGACAGTCGTGTGTCAGGGCCCAGGTTCTTCACCGGGAGCCCTCGCTCCCCAGGCCTGGTCGCTGGTGCTCACCTGTTTCTCACCTGCAGTTGGAGGAGCTCGTCTACCTCTGGATGGAGCGGCAGAAGTCAGGGGGCAACTACAGCCGCCACCGTGCGCAGACGGAGAAGCACGTGGTCCTGTGTGTCAGCTCCCTCAAGATCGACCTTCTCATGGACTTCCTGAACGAGTTCTACGCCCACCCCCGGCTCCAGGTGAGGCCCCTTACCGTGGCCCAGCAGACGACTCCCTCCCGGCCCCTAGAGACGCCATCCTCTCCCCAGGACTGCTTGGCAAGTCCCTGAGTCCTCTCAGCCTTGGTTTACCCCTTCAGTGAGGGCAGATGCCTCCCTCCCGGCGCCCAGAGACGCCATCCTCTCCCCAGGACTGCCATCCTCTCCCCAGGACTGCTTGGCAAGTCCCTGAGTCCTCTCAGCCTCAGTTTACCCCTTCAGTGAGGGTGGCAGCCCACAGTCAGGTGGAGGGGCCCTGCGGGGGCCCCTCTTTTCCCTCCCACCAGATGCAAGATCACAGTGAGCTCTAGGGCCCAGAGGTGGTGGGCACAAACACAGTCCTGAAGGCAGGGCCGCCCGGGCGGGGCAGGGGCTGGCTCAGAGGGTCTGACCCTCCGCCTGGCCGGCAGGACTATTACGTGGTCATCCTGTGCCCCACGGAGATGGATGTCCAGGTGCGCAGAGTCCTGCAGATCCCTCTGTGGTCCCAGCGGGTCATCTACCTCCAGGGCTCTGCACTCAAAGACCAGGACCTCATGCGAGCCAAGTGAGTGCTGGTGGGCGGAGGGGGTGGCATGGGGGCACCTTCCTGAGTCAGGTCGGCTGCTCAGGGCTGAGGCATTGACCGTCGCTCTCCTGGCCAATGAGAGCCATGAGAGCATTATAGACTATCCCCAGGGTGGACCATCTAGGTGGACTGTCCAGGGTGGATCGTCCGGGGTGGACCATTTAGGGTGGATCGTCTGGGGTGGACCATTCAGGGTGGACCTTCTGGGATGGACCATTTAGGTGGACCATACAGGGTGGATCATCTGGAGTGAACTGTCAAGGGTGGACCATCCAGGGTGGACCATCTGGGGTGGACCATCTAGGATGGACTGTCTGGGGTGGACCATTCAGGGTAGACCTTCTGGGATGGACCATTTAGTGTGGACCATCCAGGGTGGATTGTCTAGGGTGGGTCATCTGGGGTGAACTGTCCAGGGGGGACCATCCAGGGTGGGTCATCTGGGATGGACTGTTCAGGGTGGACCATCCAGTGTAGATCATGTGGGGTGGACCATCTAGGGTAGACTGTCCAGGGTGGACCATCTGGGGTGGGCTGTCTGGGGTGGGCCATTCAGAGTGAACCATCTGGGATGGATCTCTAGGGTGGACCATCCAGGGTGGATCATCTGGGGTGGACCATTCAAGGTGGACCATCTAGGGTGGACCATCTGGGGTTGGTCCTCTGGGGTAGATCATCAGGGGCGGACCGTCTGGGGTATACCCTCTGGGGTTGTCTGGGGTGGGCCATCCATGGTGGACCCTCTTGGGTGGACCATCTGGGGTGGATCGTCTGGGGTGGACCATCCATGGTGGACCCTCTTGGGTGGACCGTCTGGGGTGGATCATCCAGGGTGGACTGTCTGGGGTGGACCCTCTGGGGTGGATTGTCTGGGGTAGACTGTCCGGGGCCTCTTGCAGTTTCTCTAGCTCAGGTCCCAGGCCCAGATGAGCAGGACCCTGCAGCCAGGCCCTTGTCCCTGCACCATACCCACTGTGGAGCAGCCCAGGCAAGCCCAACCCAGCTAAGTCTCTGTCTCCCTTTTCAGGGTGAGGGGCAGCCTTTTGCGAGCTCCACCTTCCCCTGCTCCAAGTCTAGGGAAATCTTTGTCAAGTTCTAGGGAGGCTCAAAATAGAACAGGGGCGGGAGAGTCAGCTGCTGTGAGTCAAGGTGGGAGAACGGGCTGAAGGTAGAGTTCCTTTTAAAGACAAATTGACAGAGTGACAAGGTAACAAGAGTATATTATTACCTGGAACTTTCCAGAATGTGTCGGTGCACTTTCTGGGACACTCCCTGGAAAACCCTCCTGGTGACATTTTC
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Task1_train_13476
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The gene KCNT1 (potassium sodium-activated channel subfamily T member 1) on Chromosome 9 contains a mutation. Based on this information, is the variant pathogenic or benign? Provide the disease if relevant.
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Pathogenic; Autosomal dominant nocturnal frontal lobe epilepsy 5
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CACTGCCTGACTGCCTTGTCTCCTTTCTCCCGTGTGGGGCAGGCAGAGCAGGCCCTGAGTGGGACAAGCTCTGAGCGAGGCAGGGAGGAAGGCGGGGGCAGGGCCTGGGGGCTGGCGCACCCTCCCTCCCATCAGCCCTGCCGGACCTGGTGCTCAAACCTGACCCAGGTGGGCCTGTGCTGTCCCTGGCAGGGCTGGGGGTGATTGGGACAGTGATGCCGCTGACCCCACCGTCTAAGCCGCTCCCTGCCTCCTCCGAATGACTGGAAAGACTGAGCCTCTCACTGGCGATGGTAAGGGTGGGCTGCAGTGCCCTTGCCCTTGGTCTCCACTGGGCTGAATGCACCAGTAAAAGCCCTTGAAGCAGAGTGATGACCCCGAGGCCCTCGCTCACGAGCGTCCTTCTGGAACACAGCAGCGCCGGCTGGGTCTCCTGGAAGTATCCTCCAGGCTCTTCGATCAGCAAGACAGACAGGCAGCTTAAACAGCAGATATGTATCCTCCGCCAGCCCTGGAGGACAGAATCGGAAGTGGAGGGGTTGGCAGGGCTGACCCTATCAGGCCGCTTTGGGGGAGATTGTCCCATGCCTCTCTCCAGCTTCTGGTGGGGCCGCAATCCCTGGGGCTGCTTCTACGGTGGCTGTAGAAACCTCAGCCTCTGCCCCGTGTGCACTTGGCCTCTTCTCTGTACCTCTCACTGGATTTAGGGCCCACTCCAACCCAGGGTGACCTTATCTTAAATCATTACATCTGCAGAGACCTATTTCCAATCAGATCACATGGCGAGGTTCTGGGCAGATAGGACTTTTAGGGTCACTACGGAGCTGCCGTCATTAGCTCCTTCATCCTCACGGCGGCCCTGGAGGGTTGCCGTGCCATGCAGCCATCTTGTAGGTGAGGAAGCTGAGGCTCAGAGTGGGGGACGTGAGCCCTGGGGTGTCTGACAGCAGAGCCCCCGCCAGCACCATCCGCGGGGAAGCCTCTGTTCCGGTCGCCCTGGAGTCTTGAGCACCTCCCAGCTGTGGAAACTGTTTTGTGTGGCAAGGCAGTGGAGCCTCGTCACCGGAACAAAGCAGGCGCTGGATAAGTGCAATGCGATGGTCCCATTTAGACCAGACGATAGCACATCAGCCATGCAGCCCACAGTCCATGGGAGCTCCTGCCATTGTTCATTTAACACGTGTTCAACAAGCCGGGCACCATGACTCAGCCTGTAATCCCAGCACTTCAGGACGACAAGGCAGGAGGATCGCTTGAGCCCAGGAGTTCGAGACCAGCCTGGGCAATGTAGTGAGACCCCATCTCTACAAAAAATAAAAATAAAACTAGCTGGTCATGGTGGTGATGCACCTAGAATCCCAGCTACTCAGGAGGTTGAGGCAGGAGGATGGCTTGAGCCCGGGAAGTCAAGGCTGCAGTGAGCTGTGATTGCACCACGGCACTCCAGCCTGGGTGACAGAGTGAGCCTCCGTCTCAAAAAAAAGAAAAGCCAAAGACTTTCACCTAGAGGCCAGTGGGGCCGGTGCTGGGAGGCCCCGGTGGCCTCTGTTTTGGATCTGTCCCCTTTGAGTCTCAACACCCAGAGCTTGCATCTGGGGAGCATGAGCCAGGGCAGGCAGCATCCTCAGACCAGCAGCCTCAAACCACCTGCCCCCCAGACATAGGCTCCTGACAGTGAGGCCTGCGAGTGCCTGGAAGACCGGGGTCTGAGGCCTGATTTGGCCACGCTTACCATCAAGAGAGTGATCCCCAATCCCACGGGCTGAGCCTCCCCACCCTCGGTTTACTCCACAGTCTCCAGCCGCCCCTCCTCCCTTGGTCCCCACACATCCTGCCAGCCGGGCCTGCGTCCTGCTCTGTGTCATCTGAGGCTATCAGCATCTACAGTTTCCATGTGGGAAAGGCCCCCCTAATGTAGGTGTCACCCCCCGGCCGGCCCTGCCCCAGGCCCCTAACAGACAGTCGTGTGTCAGGGCCCAGGTTCTTCACCGGGAGCCCTCGCTCCCCAGGCCTGGTCGCTGGTGCTCACCTGTTTCTCACCTGCAGTTCGAGGAGCTCGTCTACCTCTGGATGGAGCGGCAGAAGTCAGGGGGCAACTACAGCCGCCACCGTGCGCAGACGGAGAAGCACGTGGTCCTGTGTGTCAGCTCCCTCAAGATCGACCTTCTCATGGACTTCCTGAACGAGTTCTACGCCCACCCCCGGCTCCAGGTGAGGCCCCTTACCGTGGCCCAGCAGACGACTCCCTCCCGGCCCCTAGAGACGCCATCCTCTCCCCAGGACTGCTTGGCAAGTCCCTGAGTCCTCTCAGCCTTGGTTTACCCCTTCAGTGAGGGCAGATGCCTCCCTCCCGGCGCCCAGAGACGCCATCCTCTCCCCAGGACTGCCATCCTCTCCCCAGGACTGCTTGGCAAGTCCCTGAGTCCTCTCAGCCTCAGTTTACCCCTTCAGTGAGGGTGGCAGCCCACAGTCAGGTGGAGGGGCCCTGCGGGGGCCCCTCTTTTCCCTCCCACCAGATGCAAGATCACAGTGAGCTCTAGGGCCCAGAGGTGGTGGGCACAAACACAGTCCTGAAGGCAGGGCCGCCCGGGCGGGGCAGGGGCTGGCTCAGAGGGTCTGACCCTCCGCCTGGCCGGCAGGACTATTACGTGGTCATCCTGTGCCCCACGGAGATGGATGTCCAGGTGCGCAGAGTCCTGCAGATCCCTCTGTGGTCCCAGCGGGTCATCTACCTCCAGGGCTCTGCACTCAAAGACCAGGACCTCATGCGAGCCAAGTGAGTGCTGGTGGGCGGAGGGGGTGGCATGGGGGCACCTTCCTGAGTCAGGTCGGCTGCTCAGGGCTGAGGCATTGACCGTCGCTCTCCTGGCCAATGAGAGCCATGAGAGCATTATAGACTATCCCCAGGGTGGACCATCTAGGTGGACTGTCCAGGGTGGATCGTCCGGGGTGGACCATTTAGGGTGGATCGTCTGGGGTGGACCATTCAGGGTGGACCTTCTGGGATGGACCATTTAGGTGGACCATACAGGGTGGATCATCTGGAGTGAACTGTCAAGGGTGGACCATCCAGGGTGGACCATCTGGGGTGGACCATCTAGGATGGACTGTCTGGGGTGGACCATTCAGGGTAGACCTTCTGGGATGGACCATTTAGTGTGGACCATCCAGGGTGGATTGTCTAGGGTGGGTCATCTGGGGTGAACTGTCCAGGGGGGACCATCCAGGGTGGGTCATCTGGGATGGACTGTTCAGGGTGGACCATCCAGTGTAGATCATGTGGGGTGGACCATCTAGGGTAGACTGTCCAGGGTGGACCATCTGGGGTGGGCTGTCTGGGGTGGGCCATTCAGAGTGAACCATCTGGGATGGATCTCTAGGGTGGACCATCCAGGGTGGATCATCTGGGGTGGACCATTCAAGGTGGACCATCTAGGGTGGACCATCTGGGGTTGGTCCTCTGGGGTAGATCATCAGGGGCGGACCGTCTGGGGTATACCCTCTGGGGTTGTCTGGGGTGGGCCATCCATGGTGGACCCTCTTGGGTGGACCATCTGGGGTGGATCGTCTGGGGTGGACCATCCATGGTGGACCCTCTTGGGTGGACCGTCTGGGGTGGATCATCCAGGGTGGACTGTCTGGGGTGGACCCTCTGGGGTGGATTGTCTGGGGTAGACTGTCCGGGGCCTCTTGCAGTTTCTCTAGCTCAGGTCCCAGGCCCAGATGAGCAGGACCCTGCAGCCAGGCCCTTGTCCCTGCACCATACCCACTGTGGAGCAGCCCAGGCAAGCCCAACCCAGCTAAGTCTCTGTCTCCCTTTTCAGGGTGAGGGGCAGCCTTTTGCGAGCTCCACCTTCCCCTGCTCCAAGTCTAGGGAAATCTTTGTCAAGTTCTAGGGAGGCTCAAAATAGAACAGGGGCGGGAGAGTCAGCTGCTGTGAGTCAAGGTGGGAGAACGGGCTGAAGGTAGAGTTCCTTTTAAAGACAAATTGACAGAGTGACAAGGTAACAAGAGTATATTATTACCTGGAACTTTCCAGAATGTGTCGGTGCACTTTCTGGGACACTCCCTGGAAAACCCTCCTGGTGACATTTTC
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CACTGCCTGACTGCCTTGTCTCCTTTCTCCCGTGTGGGGCAGGCAGAGCAGGCCCTGAGTGGGACAAGCTCTGAGCGAGGCAGGGAGGAAGGCGGGGGCAGGGCCTGGGGGCTGGCGCACCCTCCCTCCCATCAGCCCTGCCGGACCTGGTGCTCAAACCTGACCCAGGTGGGCCTGTGCTGTCCCTGGCAGGGCTGGGGGTGATTGGGACAGTGATGCCGCTGACCCCACCGTCTAAGCCGCTCCCTGCCTCCTCCGAATGACTGGAAAGACTGAGCCTCTCACTGGCGATGGTAAGGGTGGGCTGCAGTGCCCTTGCCCTTGGTCTCCACTGGGCTGAATGCACCAGTAAAAGCCCTTGAAGCAGAGTGATGACCCCGAGGCCCTCGCTCACGAGCGTCCTTCTGGAACACAGCAGCGCCGGCTGGGTCTCCTGGAAGTATCCTCCAGGCTCTTCGATCAGCAAGACAGACAGGCAGCTTAAACAGCAGATATGTATCCTCCGCCAGCCCTGGAGGACAGAATCGGAAGTGGAGGGGTTGGCAGGGCTGACCCTATCAGGCCGCTTTGGGGGAGATTGTCCCATGCCTCTCTCCAGCTTCTGGTGGGGCCGCAATCCCTGGGGCTGCTTCTACGGTGGCTGTAGAAACCTCAGCCTCTGCCCCGTGTGCACTTGGCCTCTTCTCTGTACCTCTCACTGGATTTAGGGCCCACTCCAACCCAGGGTGACCTTATCTTAAATCATTACATCTGCAGAGACCTATTTCCAATCAGATCACATGGCGAGGTTCTGGGCAGATAGGACTTTTAGGGTCACTACGGAGCTGCCGTCATTAGCTCCTTCATCCTCACGGCGGCCCTGGAGGGTTGCCGTGCCATGCAGCCATCTTGTAGGTGAGGAAGCTGAGGCTCAGAGTGGGGGACGTGAGCCCTGGGGTGTCTGACAGCAGAGCCCCCGCCAGCACCATCCGCGGGGAAGCCTCTGTTCCGGTCGCCCTGGAGTCTTGAGCACCTCCCAGCTGTGGAAACTGTTTTGTGTGGCAAGGCAGTGGAGCCTCGTCACCGGAACAAAGCAGGCGCTGGATAAGTGCAATGCGATGGTCCCATTTAGACCAGACGATAGCACATCAGCCATGCAGCCCACAGTCCATGGGAGCTCCTGCCATTGTTCATTTAACACGTGTTCAACAAGCCGGGCACCATGACTCAGCCTGTAATCCCAGCACTTCAGGACGACAAGGCAGGAGGATCGCTTGAGCCCAGGAGTTCGAGACCAGCCTGGGCAATGTAGTGAGACCCCATCTCTACAAAAAATAAAAATAAAACTAGCTGGTCATGGTGGTGATGCACCTAGAATCCCAGCTACTCAGGAGGTTGAGGCAGGAGGATGGCTTGAGCCCGGGAAGTCAAGGCTGCAGTGAGCTGTGATTGCACCACGGCACTCCAGCCTGGGTGACAGAGTGAGCCTCCGTCTCAAAAAAAAGAAAAGCCAAAGACTTTCACCTAGAGGCCAGTGGGGCCGGTGCTGGGAGGCCCCGGTGGCCTCTGTTTTGGATCTGTCCCCTTTGAGTCTCAACACCCAGAGCTTGCATCTGGGGAGCATGAGCCAGGGCAGGCAGCATCCTCAGACCAGCAGCCTCAAACCACCTGCCCCCCAGACATAGGCTCCTGACAGTGAGGCCTGCGAGTGCCTGGAAGACCGGGGTCTGAGGCCTGATTTGGCCACGCTTACCATCAAGAGAGTGATCCCCAATCCCACGGGCTGAGCCTCCCCACCCTCGGTTTACTCCACAGTCTCCAGCCGCCCCTCCTCCCTTGGTCCCCACACATCCTGCCAGCCGGGCCTGCGTCCTGCTCTGTGTCATCTGAGGCTATCAGCATCTACAGTTTCCATGTGGGAAAGGCCCCCCTAATGTAGGTGTCACCCCCCGGCCGGCCCTGCCCCAGGCCCCTAACAGACAGTCGTGTGTCAGGGCCCAGGTTCTTCACCGGGAGCCCTCGCTCCCCAGGCCTGGTCGCTGGTGCTCACCTGTTTCTCACCTGCAGTTGGAGGAGCTCGTCTACCTCTGGATGGAGCGGCAGAAGTCAGGGGGCAACTACAGCCGCCACCGTGCGCAGACGGAGAAGCACGTGGTCCTGTGTGTCAGCTCCCTCAAGATCGACCTTCTCATGGACTTCCTGAACGAGTTCTACGCCCACCCCCGGCTCCAGGTGAGGCCCCTTACCGTGGCCCAGCAGACGACTCCCTCCCGGCCCCTAGAGACGCCATCCTCTCCCCAGGACTGCTTGGCAAGTCCCTGAGTCCTCTCAGCCTTGGTTTACCCCTTCAGTGAGGGCAGATGCCTCCCTCCCGGCGCCCAGAGACGCCATCCTCTCCCCAGGACTGCCATCCTCTCCCCAGGACTGCTTGGCAAGTCCCTGAGTCCTCTCAGCCTCAGTTTACCCCTTCAGTGAGGGTGGCAGCCCACAGTCAGGTGGAGGGGCCCTGCGGGGGCCCCTCTTTTCCCTCCCACCAGATGCAAGATCACAGTGAGCTCTAGGGCCCAGAGGTGGTGGGCACAAACACAGTCCTGAAGGCAGGGCCGCCCGGGCGGGGCAGGGGCTGGCTCAGAGGGTCTGACCCTCCGCCTGGCCGGCAGGACTATTACGTGGTCATCCTGTGCCCCACGGAGATGGATGTCCAGGTGCGCAGAGTCCTGCAGATCCCTCTGTGGTCCCAGCGGGTCATCTACCTCCAGGGCTCTGCACTCAAAGACCAGGACCTCATGCGAGCCAAGTGAGTGCTGGTGGGCGGAGGGGGTGGCATGGGGGCACCTTCCTGAGTCAGGTCGGCTGCTCAGGGCTGAGGCATTGACCGTCGCTCTCCTGGCCAATGAGAGCCATGAGAGCATTATAGACTATCCCCAGGGTGGACCATCTAGGTGGACTGTCCAGGGTGGATCGTCCGGGGTGGACCATTTAGGGTGGATCGTCTGGGGTGGACCATTCAGGGTGGACCTTCTGGGATGGACCATTTAGGTGGACCATACAGGGTGGATCATCTGGAGTGAACTGTCAAGGGTGGACCATCCAGGGTGGACCATCTGGGGTGGACCATCTAGGATGGACTGTCTGGGGTGGACCATTCAGGGTAGACCTTCTGGGATGGACCATTTAGTGTGGACCATCCAGGGTGGATTGTCTAGGGTGGGTCATCTGGGGTGAACTGTCCAGGGGGGACCATCCAGGGTGGGTCATCTGGGATGGACTGTTCAGGGTGGACCATCCAGTGTAGATCATGTGGGGTGGACCATCTAGGGTAGACTGTCCAGGGTGGACCATCTGGGGTGGGCTGTCTGGGGTGGGCCATTCAGAGTGAACCATCTGGGATGGATCTCTAGGGTGGACCATCCAGGGTGGATCATCTGGGGTGGACCATTCAAGGTGGACCATCTAGGGTGGACCATCTGGGGTTGGTCCTCTGGGGTAGATCATCAGGGGCGGACCGTCTGGGGTATACCCTCTGGGGTTGTCTGGGGTGGGCCATCCATGGTGGACCCTCTTGGGTGGACCATCTGGGGTGGATCGTCTGGGGTGGACCATCCATGGTGGACCCTCTTGGGTGGACCGTCTGGGGTGGATCATCCAGGGTGGACTGTCTGGGGTGGACCCTCTGGGGTGGATTGTCTGGGGTAGACTGTCCGGGGCCTCTTGCAGTTTCTCTAGCTCAGGTCCCAGGCCCAGATGAGCAGGACCCTGCAGCCAGGCCCTTGTCCCTGCACCATACCCACTGTGGAGCAGCCCAGGCAAGCCCAACCCAGCTAAGTCTCTGTCTCCCTTTTCAGGGTGAGGGGCAGCCTTTTGCGAGCTCCACCTTCCCCTGCTCCAAGTCTAGGGAAATCTTTGTCAAGTTCTAGGGAGGCTCAAAATAGAACAGGGGCGGGAGAGTCAGCTGCTGTGAGTCAAGGTGGGAGAACGGGCTGAAGGTAGAGTTCCTTTTAAAGACAAATTGACAGAGTGACAAGGTAACAAGAGTATATTATTACCTGGAACTTTCCAGAATGTGTCGGTGCACTTTCTGGGACACTCCCTGGAAAACCCTCCTGGTGACATTTTC
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Task1_train_13477
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Given a variant located on Chromosome 9 and affecting KCNT1 (potassium sodium-activated channel subfamily T member 1), assess whether it is benign or pathogenic. Indicate the associated disease if pathogenic.
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Pathogenic; Developmental and epileptic encephalopathy, 14
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CAGGGCCTGGGGGCTGGCGCACCCTCCCTCCCATCAGCCCTGCCGGACCTGGTGCTCAAACCTGACCCAGGTGGGCCTGTGCTGTCCCTGGCAGGGCTGGGGGTGATTGGGACAGTGATGCCGCTGACCCCACCGTCTAAGCCGCTCCCTGCCTCCTCCGAATGACTGGAAAGACTGAGCCTCTCACTGGCGATGGTAAGGGTGGGCTGCAGTGCCCTTGCCCTTGGTCTCCACTGGGCTGAATGCACCAGTAAAAGCCCTTGAAGCAGAGTGATGACCCCGAGGCCCTCGCTCACGAGCGTCCTTCTGGAACACAGCAGCGCCGGCTGGGTCTCCTGGAAGTATCCTCCAGGCTCTTCGATCAGCAAGACAGACAGGCAGCTTAAACAGCAGATATGTATCCTCCGCCAGCCCTGGAGGACAGAATCGGAAGTGGAGGGGTTGGCAGGGCTGACCCTATCAGGCCGCTTTGGGGGAGATTGTCCCATGCCTCTCTCCAGCTTCTGGTGGGGCCGCAATCCCTGGGGCTGCTTCTACGGTGGCTGTAGAAACCTCAGCCTCTGCCCCGTGTGCACTTGGCCTCTTCTCTGTACCTCTCACTGGATTTAGGGCCCACTCCAACCCAGGGTGACCTTATCTTAAATCATTACATCTGCAGAGACCTATTTCCAATCAGATCACATGGCGAGGTTCTGGGCAGATAGGACTTTTAGGGTCACTACGGAGCTGCCGTCATTAGCTCCTTCATCCTCACGGCGGCCCTGGAGGGTTGCCGTGCCATGCAGCCATCTTGTAGGTGAGGAAGCTGAGGCTCAGAGTGGGGGACGTGAGCCCTGGGGTGTCTGACAGCAGAGCCCCCGCCAGCACCATCCGCGGGGAAGCCTCTGTTCCGGTCGCCCTGGAGTCTTGAGCACCTCCCAGCTGTGGAAACTGTTTTGTGTGGCAAGGCAGTGGAGCCTCGTCACCGGAACAAAGCAGGCGCTGGATAAGTGCAATGCGATGGTCCCATTTAGACCAGACGATAGCACATCAGCCATGCAGCCCACAGTCCATGGGAGCTCCTGCCATTGTTCATTTAACACGTGTTCAACAAGCCGGGCACCATGACTCAGCCTGTAATCCCAGCACTTCAGGACGACAAGGCAGGAGGATCGCTTGAGCCCAGGAGTTCGAGACCAGCCTGGGCAATGTAGTGAGACCCCATCTCTACAAAAAATAAAAATAAAACTAGCTGGTCATGGTGGTGATGCACCTAGAATCCCAGCTACTCAGGAGGTTGAGGCAGGAGGATGGCTTGAGCCCGGGAAGTCAAGGCTGCAGTGAGCTGTGATTGCACCACGGCACTCCAGCCTGGGTGACAGAGTGAGCCTCCGTCTCAAAAAAAAGAAAAGCCAAAGACTTTCACCTAGAGGCCAGTGGGGCCGGTGCTGGGAGGCCCCGGTGGCCTCTGTTTTGGATCTGTCCCCTTTGAGTCTCAACACCCAGAGCTTGCATCTGGGGAGCATGAGCCAGGGCAGGCAGCATCCTCAGACCAGCAGCCTCAAACCACCTGCCCCCCAGACATAGGCTCCTGACAGTGAGGCCTGCGAGTGCCTGGAAGACCGGGGTCTGAGGCCTGATTTGGCCACGCTTACCATCAAGAGAGTGATCCCCAATCCCACGGGCTGAGCCTCCCCACCCTCGGTTTACTCCACAGTCTCCAGCCGCCCCTCCTCCCTTGGTCCCCACACATCCTGCCAGCCGGGCCTGCGTCCTGCTCTGTGTCATCTGAGGCTATCAGCATCTACAGTTTCCATGTGGGAAAGGCCCCCCTAATGTAGGTGTCACCCCCCGGCCGGCCCTGCCCCAGGCCCCTAACAGACAGTCGTGTGTCAGGGCCCAGGTTCTTCACCGGGAGCCCTCGCTCCCCAGGCCTGGTCGCTGGTGCTCACCTGTTTCTCACCTGCAGTTCGAGGAGCTCGTCTACCTCTGGATGGAGCGGCAGAAGTCAGGGGGCAACTACAGCCGCCACCGTGCGCAGACGGAGAAGCACGTGGTCCTGTGTGTCAGCTCCCTCAAGATCGACCTTCTCATGGACTTCCTGAACGAGTTCTACGCCCACCCCCGGCTCCAGGTGAGGCCCCTTACCGTGGCCCAGCAGACGACTCCCTCCCGGCCCCTAGAGACGCCATCCTCTCCCCAGGACTGCTTGGCAAGTCCCTGAGTCCTCTCAGCCTTGGTTTACCCCTTCAGTGAGGGCAGATGCCTCCCTCCCGGCGCCCAGAGACGCCATCCTCTCCCCAGGACTGCCATCCTCTCCCCAGGACTGCTTGGCAAGTCCCTGAGTCCTCTCAGCCTCAGTTTACCCCTTCAGTGAGGGTGGCAGCCCACAGTCAGGTGGAGGGGCCCTGCGGGGGCCCCTCTTTTCCCTCCCACCAGATGCAAGATCACAGTGAGCTCTAGGGCCCAGAGGTGGTGGGCACAAACACAGTCCTGAAGGCAGGGCCGCCCGGGCGGGGCAGGGGCTGGCTCAGAGGGTCTGACCCTCCGCCTGGCCGGCAGGACTATTACGTGGTCATCCTGTGCCCCACGGAGATGGATGTCCAGGTGCGCAGAGTCCTGCAGATCCCTCTGTGGTCCCAGCGGGTCATCTACCTCCAGGGCTCTGCACTCAAAGACCAGGACCTCATGCGAGCCAAGTGAGTGCTGGTGGGCGGAGGGGGTGGCATGGGGGCACCTTCCTGAGTCAGGTCGGCTGCTCAGGGCTGAGGCATTGACCGTCGCTCTCCTGGCCAATGAGAGCCATGAGAGCATTATAGACTATCCCCAGGGTGGACCATCTAGGTGGACTGTCCAGGGTGGATCGTCCGGGGTGGACCATTTAGGGTGGATCGTCTGGGGTGGACCATTCAGGGTGGACCTTCTGGGATGGACCATTTAGGTGGACCATACAGGGTGGATCATCTGGAGTGAACTGTCAAGGGTGGACCATCCAGGGTGGACCATCTGGGGTGGACCATCTAGGATGGACTGTCTGGGGTGGACCATTCAGGGTAGACCTTCTGGGATGGACCATTTAGTGTGGACCATCCAGGGTGGATTGTCTAGGGTGGGTCATCTGGGGTGAACTGTCCAGGGGGGACCATCCAGGGTGGGTCATCTGGGATGGACTGTTCAGGGTGGACCATCCAGTGTAGATCATGTGGGGTGGACCATCTAGGGTAGACTGTCCAGGGTGGACCATCTGGGGTGGGCTGTCTGGGGTGGGCCATTCAGAGTGAACCATCTGGGATGGATCTCTAGGGTGGACCATCCAGGGTGGATCATCTGGGGTGGACCATTCAAGGTGGACCATCTAGGGTGGACCATCTGGGGTTGGTCCTCTGGGGTAGATCATCAGGGGCGGACCGTCTGGGGTATACCCTCTGGGGTTGTCTGGGGTGGGCCATCCATGGTGGACCCTCTTGGGTGGACCATCTGGGGTGGATCGTCTGGGGTGGACCATCCATGGTGGACCCTCTTGGGTGGACCGTCTGGGGTGGATCATCCAGGGTGGACTGTCTGGGGTGGACCCTCTGGGGTGGATTGTCTGGGGTAGACTGTCCGGGGCCTCTTGCAGTTTCTCTAGCTCAGGTCCCAGGCCCAGATGAGCAGGACCCTGCAGCCAGGCCCTTGTCCCTGCACCATACCCACTGTGGAGCAGCCCAGGCAAGCCCAACCCAGCTAAGTCTCTGTCTCCCTTTTCAGGGTGAGGGGCAGCCTTTTGCGAGCTCCACCTTCCCCTGCTCCAAGTCTAGGGAAATCTTTGTCAAGTTCTAGGGAGGCTCAAAATAGAACAGGGGCGGGAGAGTCAGCTGCTGTGAGTCAAGGTGGGAGAACGGGCTGAAGGTAGAGTTCCTTTTAAAGACAAATTGACAGAGTGACAAGGTAACAAGAGTATATTATTACCTGGAACTTTCCAGAATGTGTCGGTGCACTTTCTGGGACACTCCCTGGAAAACCCTCCTGGTGACATTTTCATTCCAGGAGCCTGAATGTGTCCTTAGTGGCATAGTGTTGGTGGTACTCCCAGGGTCTCTCCTCATCACTCCCCCTCCCCCTGCCATGTCCAGAGCCC
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CAGGGCCTGGGGGCTGGCGCACCCTCCCTCCCATCAGCCCTGCCGGACCTGGTGCTCAAACCTGACCCAGGTGGGCCTGTGCTGTCCCTGGCAGGGCTGGGGGTGATTGGGACAGTGATGCCGCTGACCCCACCGTCTAAGCCGCTCCCTGCCTCCTCCGAATGACTGGAAAGACTGAGCCTCTCACTGGCGATGGTAAGGGTGGGCTGCAGTGCCCTTGCCCTTGGTCTCCACTGGGCTGAATGCACCAGTAAAAGCCCTTGAAGCAGAGTGATGACCCCGAGGCCCTCGCTCACGAGCGTCCTTCTGGAACACAGCAGCGCCGGCTGGGTCTCCTGGAAGTATCCTCCAGGCTCTTCGATCAGCAAGACAGACAGGCAGCTTAAACAGCAGATATGTATCCTCCGCCAGCCCTGGAGGACAGAATCGGAAGTGGAGGGGTTGGCAGGGCTGACCCTATCAGGCCGCTTTGGGGGAGATTGTCCCATGCCTCTCTCCAGCTTCTGGTGGGGCCGCAATCCCTGGGGCTGCTTCTACGGTGGCTGTAGAAACCTCAGCCTCTGCCCCGTGTGCACTTGGCCTCTTCTCTGTACCTCTCACTGGATTTAGGGCCCACTCCAACCCAGGGTGACCTTATCTTAAATCATTACATCTGCAGAGACCTATTTCCAATCAGATCACATGGCGAGGTTCTGGGCAGATAGGACTTTTAGGGTCACTACGGAGCTGCCGTCATTAGCTCCTTCATCCTCACGGCGGCCCTGGAGGGTTGCCGTGCCATGCAGCCATCTTGTAGGTGAGGAAGCTGAGGCTCAGAGTGGGGGACGTGAGCCCTGGGGTGTCTGACAGCAGAGCCCCCGCCAGCACCATCCGCGGGGAAGCCTCTGTTCCGGTCGCCCTGGAGTCTTGAGCACCTCCCAGCTGTGGAAACTGTTTTGTGTGGCAAGGCAGTGGAGCCTCGTCACCGGAACAAAGCAGGCGCTGGATAAGTGCAATGCGATGGTCCCATTTAGACCAGACGATAGCACATCAGCCATGCAGCCCACAGTCCATGGGAGCTCCTGCCATTGTTCATTTAACACGTGTTCAACAAGCCGGGCACCATGACTCAGCCTGTAATCCCAGCACTTCAGGACGACAAGGCAGGAGGATCGCTTGAGCCCAGGAGTTCGAGACCAGCCTGGGCAATGTAGTGAGACCCCATCTCTACAAAAAATAAAAATAAAACTAGCTGGTCATGGTGGTGATGCACCTAGAATCCCAGCTACTCAGGAGGTTGAGGCAGGAGGATGGCTTGAGCCCGGGAAGTCAAGGCTGCAGTGAGCTGTGATTGCACCACGGCACTCCAGCCTGGGTGACAGAGTGAGCCTCCGTCTCAAAAAAAAGAAAAGCCAAAGACTTTCACCTAGAGGCCAGTGGGGCCGGTGCTGGGAGGCCCCGGTGGCCTCTGTTTTGGATCTGTCCCCTTTGAGTCTCAACACCCAGAGCTTGCATCTGGGGAGCATGAGCCAGGGCAGGCAGCATCCTCAGACCAGCAGCCTCAAACCACCTGCCCCCCAGACATAGGCTCCTGACAGTGAGGCCTGCGAGTGCCTGGAAGACCGGGGTCTGAGGCCTGATTTGGCCACGCTTACCATCAAGAGAGTGATCCCCAATCCCACGGGCTGAGCCTCCCCACCCTCGGTTTACTCCACAGTCTCCAGCCGCCCCTCCTCCCTTGGTCCCCACACATCCTGCCAGCCGGGCCTGCGTCCTGCTCTGTGTCATCTGAGGCTATCAGCATCTACAGTTTCCATGTGGGAAAGGCCCCCCTAATGTAGGTGTCACCCCCCGGCCGGCCCTGCCCCAGGCCCCTAACAGACAGTCGTGTGTCAGGGCCCAGGTTCTTCACCGGGAGCCCTCGCTCCCCAGGCCTGGTCGCTGGTGCTCACCTGTTTCTCACCTGCAGTTCGAGGAGCTCGTCTACCTCTGGATGGAGCGGCAGAAGTCAGGGGGCAACTACAGCCGCCACCGTGCGCAGACGGAGAAGCACGTGGTCCTGTGTGTCAACTCCCTCAAGATCGACCTTCTCATGGACTTCCTGAACGAGTTCTACGCCCACCCCCGGCTCCAGGTGAGGCCCCTTACCGTGGCCCAGCAGACGACTCCCTCCCGGCCCCTAGAGACGCCATCCTCTCCCCAGGACTGCTTGGCAAGTCCCTGAGTCCTCTCAGCCTTGGTTTACCCCTTCAGTGAGGGCAGATGCCTCCCTCCCGGCGCCCAGAGACGCCATCCTCTCCCCAGGACTGCCATCCTCTCCCCAGGACTGCTTGGCAAGTCCCTGAGTCCTCTCAGCCTCAGTTTACCCCTTCAGTGAGGGTGGCAGCCCACAGTCAGGTGGAGGGGCCCTGCGGGGGCCCCTCTTTTCCCTCCCACCAGATGCAAGATCACAGTGAGCTCTAGGGCCCAGAGGTGGTGGGCACAAACACAGTCCTGAAGGCAGGGCCGCCCGGGCGGGGCAGGGGCTGGCTCAGAGGGTCTGACCCTCCGCCTGGCCGGCAGGACTATTACGTGGTCATCCTGTGCCCCACGGAGATGGATGTCCAGGTGCGCAGAGTCCTGCAGATCCCTCTGTGGTCCCAGCGGGTCATCTACCTCCAGGGCTCTGCACTCAAAGACCAGGACCTCATGCGAGCCAAGTGAGTGCTGGTGGGCGGAGGGGGTGGCATGGGGGCACCTTCCTGAGTCAGGTCGGCTGCTCAGGGCTGAGGCATTGACCGTCGCTCTCCTGGCCAATGAGAGCCATGAGAGCATTATAGACTATCCCCAGGGTGGACCATCTAGGTGGACTGTCCAGGGTGGATCGTCCGGGGTGGACCATTTAGGGTGGATCGTCTGGGGTGGACCATTCAGGGTGGACCTTCTGGGATGGACCATTTAGGTGGACCATACAGGGTGGATCATCTGGAGTGAACTGTCAAGGGTGGACCATCCAGGGTGGACCATCTGGGGTGGACCATCTAGGATGGACTGTCTGGGGTGGACCATTCAGGGTAGACCTTCTGGGATGGACCATTTAGTGTGGACCATCCAGGGTGGATTGTCTAGGGTGGGTCATCTGGGGTGAACTGTCCAGGGGGGACCATCCAGGGTGGGTCATCTGGGATGGACTGTTCAGGGTGGACCATCCAGTGTAGATCATGTGGGGTGGACCATCTAGGGTAGACTGTCCAGGGTGGACCATCTGGGGTGGGCTGTCTGGGGTGGGCCATTCAGAGTGAACCATCTGGGATGGATCTCTAGGGTGGACCATCCAGGGTGGATCATCTGGGGTGGACCATTCAAGGTGGACCATCTAGGGTGGACCATCTGGGGTTGGTCCTCTGGGGTAGATCATCAGGGGCGGACCGTCTGGGGTATACCCTCTGGGGTTGTCTGGGGTGGGCCATCCATGGTGGACCCTCTTGGGTGGACCATCTGGGGTGGATCGTCTGGGGTGGACCATCCATGGTGGACCCTCTTGGGTGGACCGTCTGGGGTGGATCATCCAGGGTGGACTGTCTGGGGTGGACCCTCTGGGGTGGATTGTCTGGGGTAGACTGTCCGGGGCCTCTTGCAGTTTCTCTAGCTCAGGTCCCAGGCCCAGATGAGCAGGACCCTGCAGCCAGGCCCTTGTCCCTGCACCATACCCACTGTGGAGCAGCCCAGGCAAGCCCAACCCAGCTAAGTCTCTGTCTCCCTTTTCAGGGTGAGGGGCAGCCTTTTGCGAGCTCCACCTTCCCCTGCTCCAAGTCTAGGGAAATCTTTGTCAAGTTCTAGGGAGGCTCAAAATAGAACAGGGGCGGGAGAGTCAGCTGCTGTGAGTCAAGGTGGGAGAACGGGCTGAAGGTAGAGTTCCTTTTAAAGACAAATTGACAGAGTGACAAGGTAACAAGAGTATATTATTACCTGGAACTTTCCAGAATGTGTCGGTGCACTTTCTGGGACACTCCCTGGAAAACCCTCCTGGTGACATTTTCATTCCAGGAGCCTGAATGTGTCCTTAGTGGCATAGTGTTGGTGGTACTCCCAGGGTCTCTCCTCATCACTCCCCCTCCCCCTGCCATGTCCAGAGCCC
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Task1_train_13478
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A variant has been detected on Chromosome 9 in KCNT1 (potassium sodium-activated channel subfamily T member 1). What is its effect — pathogenic or benign? If pathogenic, name the disease.
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Pathogenic; Autosomal dominant nocturnal frontal lobe epilepsy 5
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CAGGGCCTGGGGGCTGGCGCACCCTCCCTCCCATCAGCCCTGCCGGACCTGGTGCTCAAACCTGACCCAGGTGGGCCTGTGCTGTCCCTGGCAGGGCTGGGGGTGATTGGGACAGTGATGCCGCTGACCCCACCGTCTAAGCCGCTCCCTGCCTCCTCCGAATGACTGGAAAGACTGAGCCTCTCACTGGCGATGGTAAGGGTGGGCTGCAGTGCCCTTGCCCTTGGTCTCCACTGGGCTGAATGCACCAGTAAAAGCCCTTGAAGCAGAGTGATGACCCCGAGGCCCTCGCTCACGAGCGTCCTTCTGGAACACAGCAGCGCCGGCTGGGTCTCCTGGAAGTATCCTCCAGGCTCTTCGATCAGCAAGACAGACAGGCAGCTTAAACAGCAGATATGTATCCTCCGCCAGCCCTGGAGGACAGAATCGGAAGTGGAGGGGTTGGCAGGGCTGACCCTATCAGGCCGCTTTGGGGGAGATTGTCCCATGCCTCTCTCCAGCTTCTGGTGGGGCCGCAATCCCTGGGGCTGCTTCTACGGTGGCTGTAGAAACCTCAGCCTCTGCCCCGTGTGCACTTGGCCTCTTCTCTGTACCTCTCACTGGATTTAGGGCCCACTCCAACCCAGGGTGACCTTATCTTAAATCATTACATCTGCAGAGACCTATTTCCAATCAGATCACATGGCGAGGTTCTGGGCAGATAGGACTTTTAGGGTCACTACGGAGCTGCCGTCATTAGCTCCTTCATCCTCACGGCGGCCCTGGAGGGTTGCCGTGCCATGCAGCCATCTTGTAGGTGAGGAAGCTGAGGCTCAGAGTGGGGGACGTGAGCCCTGGGGTGTCTGACAGCAGAGCCCCCGCCAGCACCATCCGCGGGGAAGCCTCTGTTCCGGTCGCCCTGGAGTCTTGAGCACCTCCCAGCTGTGGAAACTGTTTTGTGTGGCAAGGCAGTGGAGCCTCGTCACCGGAACAAAGCAGGCGCTGGATAAGTGCAATGCGATGGTCCCATTTAGACCAGACGATAGCACATCAGCCATGCAGCCCACAGTCCATGGGAGCTCCTGCCATTGTTCATTTAACACGTGTTCAACAAGCCGGGCACCATGACTCAGCCTGTAATCCCAGCACTTCAGGACGACAAGGCAGGAGGATCGCTTGAGCCCAGGAGTTCGAGACCAGCCTGGGCAATGTAGTGAGACCCCATCTCTACAAAAAATAAAAATAAAACTAGCTGGTCATGGTGGTGATGCACCTAGAATCCCAGCTACTCAGGAGGTTGAGGCAGGAGGATGGCTTGAGCCCGGGAAGTCAAGGCTGCAGTGAGCTGTGATTGCACCACGGCACTCCAGCCTGGGTGACAGAGTGAGCCTCCGTCTCAAAAAAAAGAAAAGCCAAAGACTTTCACCTAGAGGCCAGTGGGGCCGGTGCTGGGAGGCCCCGGTGGCCTCTGTTTTGGATCTGTCCCCTTTGAGTCTCAACACCCAGAGCTTGCATCTGGGGAGCATGAGCCAGGGCAGGCAGCATCCTCAGACCAGCAGCCTCAAACCACCTGCCCCCCAGACATAGGCTCCTGACAGTGAGGCCTGCGAGTGCCTGGAAGACCGGGGTCTGAGGCCTGATTTGGCCACGCTTACCATCAAGAGAGTGATCCCCAATCCCACGGGCTGAGCCTCCCCACCCTCGGTTTACTCCACAGTCTCCAGCCGCCCCTCCTCCCTTGGTCCCCACACATCCTGCCAGCCGGGCCTGCGTCCTGCTCTGTGTCATCTGAGGCTATCAGCATCTACAGTTTCCATGTGGGAAAGGCCCCCCTAATGTAGGTGTCACCCCCCGGCCGGCCCTGCCCCAGGCCCCTAACAGACAGTCGTGTGTCAGGGCCCAGGTTCTTCACCGGGAGCCCTCGCTCCCCAGGCCTGGTCGCTGGTGCTCACCTGTTTCTCACCTGCAGTTCGAGGAGCTCGTCTACCTCTGGATGGAGCGGCAGAAGTCAGGGGGCAACTACAGCCGCCACCGTGCGCAGACGGAGAAGCACGTGGTCCTGTGTGTCAGCTCCCTCAAGATCGACCTTCTCATGGACTTCCTGAACGAGTTCTACGCCCACCCCCGGCTCCAGGTGAGGCCCCTTACCGTGGCCCAGCAGACGACTCCCTCCCGGCCCCTAGAGACGCCATCCTCTCCCCAGGACTGCTTGGCAAGTCCCTGAGTCCTCTCAGCCTTGGTTTACCCCTTCAGTGAGGGCAGATGCCTCCCTCCCGGCGCCCAGAGACGCCATCCTCTCCCCAGGACTGCCATCCTCTCCCCAGGACTGCTTGGCAAGTCCCTGAGTCCTCTCAGCCTCAGTTTACCCCTTCAGTGAGGGTGGCAGCCCACAGTCAGGTGGAGGGGCCCTGCGGGGGCCCCTCTTTTCCCTCCCACCAGATGCAAGATCACAGTGAGCTCTAGGGCCCAGAGGTGGTGGGCACAAACACAGTCCTGAAGGCAGGGCCGCCCGGGCGGGGCAGGGGCTGGCTCAGAGGGTCTGACCCTCCGCCTGGCCGGCAGGACTATTACGTGGTCATCCTGTGCCCCACGGAGATGGATGTCCAGGTGCGCAGAGTCCTGCAGATCCCTCTGTGGTCCCAGCGGGTCATCTACCTCCAGGGCTCTGCACTCAAAGACCAGGACCTCATGCGAGCCAAGTGAGTGCTGGTGGGCGGAGGGGGTGGCATGGGGGCACCTTCCTGAGTCAGGTCGGCTGCTCAGGGCTGAGGCATTGACCGTCGCTCTCCTGGCCAATGAGAGCCATGAGAGCATTATAGACTATCCCCAGGGTGGACCATCTAGGTGGACTGTCCAGGGTGGATCGTCCGGGGTGGACCATTTAGGGTGGATCGTCTGGGGTGGACCATTCAGGGTGGACCTTCTGGGATGGACCATTTAGGTGGACCATACAGGGTGGATCATCTGGAGTGAACTGTCAAGGGTGGACCATCCAGGGTGGACCATCTGGGGTGGACCATCTAGGATGGACTGTCTGGGGTGGACCATTCAGGGTAGACCTTCTGGGATGGACCATTTAGTGTGGACCATCCAGGGTGGATTGTCTAGGGTGGGTCATCTGGGGTGAACTGTCCAGGGGGGACCATCCAGGGTGGGTCATCTGGGATGGACTGTTCAGGGTGGACCATCCAGTGTAGATCATGTGGGGTGGACCATCTAGGGTAGACTGTCCAGGGTGGACCATCTGGGGTGGGCTGTCTGGGGTGGGCCATTCAGAGTGAACCATCTGGGATGGATCTCTAGGGTGGACCATCCAGGGTGGATCATCTGGGGTGGACCATTCAAGGTGGACCATCTAGGGTGGACCATCTGGGGTTGGTCCTCTGGGGTAGATCATCAGGGGCGGACCGTCTGGGGTATACCCTCTGGGGTTGTCTGGGGTGGGCCATCCATGGTGGACCCTCTTGGGTGGACCATCTGGGGTGGATCGTCTGGGGTGGACCATCCATGGTGGACCCTCTTGGGTGGACCGTCTGGGGTGGATCATCCAGGGTGGACTGTCTGGGGTGGACCCTCTGGGGTGGATTGTCTGGGGTAGACTGTCCGGGGCCTCTTGCAGTTTCTCTAGCTCAGGTCCCAGGCCCAGATGAGCAGGACCCTGCAGCCAGGCCCTTGTCCCTGCACCATACCCACTGTGGAGCAGCCCAGGCAAGCCCAACCCAGCTAAGTCTCTGTCTCCCTTTTCAGGGTGAGGGGCAGCCTTTTGCGAGCTCCACCTTCCCCTGCTCCAAGTCTAGGGAAATCTTTGTCAAGTTCTAGGGAGGCTCAAAATAGAACAGGGGCGGGAGAGTCAGCTGCTGTGAGTCAAGGTGGGAGAACGGGCTGAAGGTAGAGTTCCTTTTAAAGACAAATTGACAGAGTGACAAGGTAACAAGAGTATATTATTACCTGGAACTTTCCAGAATGTGTCGGTGCACTTTCTGGGACACTCCCTGGAAAACCCTCCTGGTGACATTTTCATTCCAGGAGCCTGAATGTGTCCTTAGTGGCATAGTGTTGGTGGTACTCCCAGGGTCTCTCCTCATCACTCCCCCTCCCCCTGCCATGTCCAGAGCCC
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CAGGGCCTGGGGGCTGGCGCACCCTCCCTCCCATCAGCCCTGCCGGACCTGGTGCTCAAACCTGACCCAGGTGGGCCTGTGCTGTCCCTGGCAGGGCTGGGGGTGATTGGGACAGTGATGCCGCTGACCCCACCGTCTAAGCCGCTCCCTGCCTCCTCCGAATGACTGGAAAGACTGAGCCTCTCACTGGCGATGGTAAGGGTGGGCTGCAGTGCCCTTGCCCTTGGTCTCCACTGGGCTGAATGCACCAGTAAAAGCCCTTGAAGCAGAGTGATGACCCCGAGGCCCTCGCTCACGAGCGTCCTTCTGGAACACAGCAGCGCCGGCTGGGTCTCCTGGAAGTATCCTCCAGGCTCTTCGATCAGCAAGACAGACAGGCAGCTTAAACAGCAGATATGTATCCTCCGCCAGCCCTGGAGGACAGAATCGGAAGTGGAGGGGTTGGCAGGGCTGACCCTATCAGGCCGCTTTGGGGGAGATTGTCCCATGCCTCTCTCCAGCTTCTGGTGGGGCCGCAATCCCTGGGGCTGCTTCTACGGTGGCTGTAGAAACCTCAGCCTCTGCCCCGTGTGCACTTGGCCTCTTCTCTGTACCTCTCACTGGATTTAGGGCCCACTCCAACCCAGGGTGACCTTATCTTAAATCATTACATCTGCAGAGACCTATTTCCAATCAGATCACATGGCGAGGTTCTGGGCAGATAGGACTTTTAGGGTCACTACGGAGCTGCCGTCATTAGCTCCTTCATCCTCACGGCGGCCCTGGAGGGTTGCCGTGCCATGCAGCCATCTTGTAGGTGAGGAAGCTGAGGCTCAGAGTGGGGGACGTGAGCCCTGGGGTGTCTGACAGCAGAGCCCCCGCCAGCACCATCCGCGGGGAAGCCTCTGTTCCGGTCGCCCTGGAGTCTTGAGCACCTCCCAGCTGTGGAAACTGTTTTGTGTGGCAAGGCAGTGGAGCCTCGTCACCGGAACAAAGCAGGCGCTGGATAAGTGCAATGCGATGGTCCCATTTAGACCAGACGATAGCACATCAGCCATGCAGCCCACAGTCCATGGGAGCTCCTGCCATTGTTCATTTAACACGTGTTCAACAAGCCGGGCACCATGACTCAGCCTGTAATCCCAGCACTTCAGGACGACAAGGCAGGAGGATCGCTTGAGCCCAGGAGTTCGAGACCAGCCTGGGCAATGTAGTGAGACCCCATCTCTACAAAAAATAAAAATAAAACTAGCTGGTCATGGTGGTGATGCACCTAGAATCCCAGCTACTCAGGAGGTTGAGGCAGGAGGATGGCTTGAGCCCGGGAAGTCAAGGCTGCAGTGAGCTGTGATTGCACCACGGCACTCCAGCCTGGGTGACAGAGTGAGCCTCCGTCTCAAAAAAAAGAAAAGCCAAAGACTTTCACCTAGAGGCCAGTGGGGCCGGTGCTGGGAGGCCCCGGTGGCCTCTGTTTTGGATCTGTCCCCTTTGAGTCTCAACACCCAGAGCTTGCATCTGGGGAGCATGAGCCAGGGCAGGCAGCATCCTCAGACCAGCAGCCTCAAACCACCTGCCCCCCAGACATAGGCTCCTGACAGTGAGGCCTGCGAGTGCCTGGAAGACCGGGGTCTGAGGCCTGATTTGGCCACGCTTACCATCAAGAGAGTGATCCCCAATCCCACGGGCTGAGCCTCCCCACCCTCGGTTTACTCCACAGTCTCCAGCCGCCCCTCCTCCCTTGGTCCCCACACATCCTGCCAGCCGGGCCTGCGTCCTGCTCTGTGTCATCTGAGGCTATCAGCATCTACAGTTTCCATGTGGGAAAGGCCCCCCTAATGTAGGTGTCACCCCCCGGCCGGCCCTGCCCCAGGCCCCTAACAGACAGTCGTGTGTCAGGGCCCAGGTTCTTCACCGGGAGCCCTCGCTCCCCAGGCCTGGTCGCTGGTGCTCACCTGTTTCTCACCTGCAGTTCGAGGAGCTCGTCTACCTCTGGATGGAGCGGCAGAAGTCAGGGGGCAACTACAGCCGCCACCGTGCGCAGACGGAGAAGCACGTGGTCCTGTGTGTCAACTCCCTCAAGATCGACCTTCTCATGGACTTCCTGAACGAGTTCTACGCCCACCCCCGGCTCCAGGTGAGGCCCCTTACCGTGGCCCAGCAGACGACTCCCTCCCGGCCCCTAGAGACGCCATCCTCTCCCCAGGACTGCTTGGCAAGTCCCTGAGTCCTCTCAGCCTTGGTTTACCCCTTCAGTGAGGGCAGATGCCTCCCTCCCGGCGCCCAGAGACGCCATCCTCTCCCCAGGACTGCCATCCTCTCCCCAGGACTGCTTGGCAAGTCCCTGAGTCCTCTCAGCCTCAGTTTACCCCTTCAGTGAGGGTGGCAGCCCACAGTCAGGTGGAGGGGCCCTGCGGGGGCCCCTCTTTTCCCTCCCACCAGATGCAAGATCACAGTGAGCTCTAGGGCCCAGAGGTGGTGGGCACAAACACAGTCCTGAAGGCAGGGCCGCCCGGGCGGGGCAGGGGCTGGCTCAGAGGGTCTGACCCTCCGCCTGGCCGGCAGGACTATTACGTGGTCATCCTGTGCCCCACGGAGATGGATGTCCAGGTGCGCAGAGTCCTGCAGATCCCTCTGTGGTCCCAGCGGGTCATCTACCTCCAGGGCTCTGCACTCAAAGACCAGGACCTCATGCGAGCCAAGTGAGTGCTGGTGGGCGGAGGGGGTGGCATGGGGGCACCTTCCTGAGTCAGGTCGGCTGCTCAGGGCTGAGGCATTGACCGTCGCTCTCCTGGCCAATGAGAGCCATGAGAGCATTATAGACTATCCCCAGGGTGGACCATCTAGGTGGACTGTCCAGGGTGGATCGTCCGGGGTGGACCATTTAGGGTGGATCGTCTGGGGTGGACCATTCAGGGTGGACCTTCTGGGATGGACCATTTAGGTGGACCATACAGGGTGGATCATCTGGAGTGAACTGTCAAGGGTGGACCATCCAGGGTGGACCATCTGGGGTGGACCATCTAGGATGGACTGTCTGGGGTGGACCATTCAGGGTAGACCTTCTGGGATGGACCATTTAGTGTGGACCATCCAGGGTGGATTGTCTAGGGTGGGTCATCTGGGGTGAACTGTCCAGGGGGGACCATCCAGGGTGGGTCATCTGGGATGGACTGTTCAGGGTGGACCATCCAGTGTAGATCATGTGGGGTGGACCATCTAGGGTAGACTGTCCAGGGTGGACCATCTGGGGTGGGCTGTCTGGGGTGGGCCATTCAGAGTGAACCATCTGGGATGGATCTCTAGGGTGGACCATCCAGGGTGGATCATCTGGGGTGGACCATTCAAGGTGGACCATCTAGGGTGGACCATCTGGGGTTGGTCCTCTGGGGTAGATCATCAGGGGCGGACCGTCTGGGGTATACCCTCTGGGGTTGTCTGGGGTGGGCCATCCATGGTGGACCCTCTTGGGTGGACCATCTGGGGTGGATCGTCTGGGGTGGACCATCCATGGTGGACCCTCTTGGGTGGACCGTCTGGGGTGGATCATCCAGGGTGGACTGTCTGGGGTGGACCCTCTGGGGTGGATTGTCTGGGGTAGACTGTCCGGGGCCTCTTGCAGTTTCTCTAGCTCAGGTCCCAGGCCCAGATGAGCAGGACCCTGCAGCCAGGCCCTTGTCCCTGCACCATACCCACTGTGGAGCAGCCCAGGCAAGCCCAACCCAGCTAAGTCTCTGTCTCCCTTTTCAGGGTGAGGGGCAGCCTTTTGCGAGCTCCACCTTCCCCTGCTCCAAGTCTAGGGAAATCTTTGTCAAGTTCTAGGGAGGCTCAAAATAGAACAGGGGCGGGAGAGTCAGCTGCTGTGAGTCAAGGTGGGAGAACGGGCTGAAGGTAGAGTTCCTTTTAAAGACAAATTGACAGAGTGACAAGGTAACAAGAGTATATTATTACCTGGAACTTTCCAGAATGTGTCGGTGCACTTTCTGGGACACTCCCTGGAAAACCCTCCTGGTGACATTTTCATTCCAGGAGCCTGAATGTGTCCTTAGTGGCATAGTGTTGGTGGTACTCCCAGGGTCTCTCCTCATCACTCCCCCTCCCCCTGCCATGTCCAGAGCCC
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Task1_train_13479
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Gene KCNT1 (potassium sodium-activated channel subfamily T member 1), found on Chromosome 9, is impacted by this variant. What is the biological outcome — benign or pathogenic?
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Pathogenic; Autosomal dominant nocturnal frontal lobe epilepsy 5
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TTGGCCTCTTCTCTGTACCTCTCACTGGATTTAGGGCCCACTCCAACCCAGGGTGACCTTATCTTAAATCATTACATCTGCAGAGACCTATTTCCAATCAGATCACATGGCGAGGTTCTGGGCAGATAGGACTTTTAGGGTCACTACGGAGCTGCCGTCATTAGCTCCTTCATCCTCACGGCGGCCCTGGAGGGTTGCCGTGCCATGCAGCCATCTTGTAGGTGAGGAAGCTGAGGCTCAGAGTGGGGGACGTGAGCCCTGGGGTGTCTGACAGCAGAGCCCCCGCCAGCACCATCCGCGGGGAAGCCTCTGTTCCGGTCGCCCTGGAGTCTTGAGCACCTCCCAGCTGTGGAAACTGTTTTGTGTGGCAAGGCAGTGGAGCCTCGTCACCGGAACAAAGCAGGCGCTGGATAAGTGCAATGCGATGGTCCCATTTAGACCAGACGATAGCACATCAGCCATGCAGCCCACAGTCCATGGGAGCTCCTGCCATTGTTCATTTAACACGTGTTCAACAAGCCGGGCACCATGACTCAGCCTGTAATCCCAGCACTTCAGGACGACAAGGCAGGAGGATCGCTTGAGCCCAGGAGTTCGAGACCAGCCTGGGCAATGTAGTGAGACCCCATCTCTACAAAAAATAAAAATAAAACTAGCTGGTCATGGTGGTGATGCACCTAGAATCCCAGCTACTCAGGAGGTTGAGGCAGGAGGATGGCTTGAGCCCGGGAAGTCAAGGCTGCAGTGAGCTGTGATTGCACCACGGCACTCCAGCCTGGGTGACAGAGTGAGCCTCCGTCTCAAAAAAAAGAAAAGCCAAAGACTTTCACCTAGAGGCCAGTGGGGCCGGTGCTGGGAGGCCCCGGTGGCCTCTGTTTTGGATCTGTCCCCTTTGAGTCTCAACACCCAGAGCTTGCATCTGGGGAGCATGAGCCAGGGCAGGCAGCATCCTCAGACCAGCAGCCTCAAACCACCTGCCCCCCAGACATAGGCTCCTGACAGTGAGGCCTGCGAGTGCCTGGAAGACCGGGGTCTGAGGCCTGATTTGGCCACGCTTACCATCAAGAGAGTGATCCCCAATCCCACGGGCTGAGCCTCCCCACCCTCGGTTTACTCCACAGTCTCCAGCCGCCCCTCCTCCCTTGGTCCCCACACATCCTGCCAGCCGGGCCTGCGTCCTGCTCTGTGTCATCTGAGGCTATCAGCATCTACAGTTTCCATGTGGGAAAGGCCCCCCTAATGTAGGTGTCACCCCCCGGCCGGCCCTGCCCCAGGCCCCTAACAGACAGTCGTGTGTCAGGGCCCAGGTTCTTCACCGGGAGCCCTCGCTCCCCAGGCCTGGTCGCTGGTGCTCACCTGTTTCTCACCTGCAGTTCGAGGAGCTCGTCTACCTCTGGATGGAGCGGCAGAAGTCAGGGGGCAACTACAGCCGCCACCGTGCGCAGACGGAGAAGCACGTGGTCCTGTGTGTCAGCTCCCTCAAGATCGACCTTCTCATGGACTTCCTGAACGAGTTCTACGCCCACCCCCGGCTCCAGGTGAGGCCCCTTACCGTGGCCCAGCAGACGACTCCCTCCCGGCCCCTAGAGACGCCATCCTCTCCCCAGGACTGCTTGGCAAGTCCCTGAGTCCTCTCAGCCTTGGTTTACCCCTTCAGTGAGGGCAGATGCCTCCCTCCCGGCGCCCAGAGACGCCATCCTCTCCCCAGGACTGCCATCCTCTCCCCAGGACTGCTTGGCAAGTCCCTGAGTCCTCTCAGCCTCAGTTTACCCCTTCAGTGAGGGTGGCAGCCCACAGTCAGGTGGAGGGGCCCTGCGGGGGCCCCTCTTTTCCCTCCCACCAGATGCAAGATCACAGTGAGCTCTAGGGCCCAGAGGTGGTGGGCACAAACACAGTCCTGAAGGCAGGGCCGCCCGGGCGGGGCAGGGGCTGGCTCAGAGGGTCTGACCCTCCGCCTGGCCGGCAGGACTATTACGTGGTCATCCTGTGCCCCACGGAGATGGATGTCCAGGTGCGCAGAGTCCTGCAGATCCCTCTGTGGTCCCAGCGGGTCATCTACCTCCAGGGCTCTGCACTCAAAGACCAGGACCTCATGCGAGCCAAGTGAGTGCTGGTGGGCGGAGGGGGTGGCATGGGGGCACCTTCCTGAGTCAGGTCGGCTGCTCAGGGCTGAGGCATTGACCGTCGCTCTCCTGGCCAATGAGAGCCATGAGAGCATTATAGACTATCCCCAGGGTGGACCATCTAGGTGGACTGTCCAGGGTGGATCGTCCGGGGTGGACCATTTAGGGTGGATCGTCTGGGGTGGACCATTCAGGGTGGACCTTCTGGGATGGACCATTTAGGTGGACCATACAGGGTGGATCATCTGGAGTGAACTGTCAAGGGTGGACCATCCAGGGTGGACCATCTGGGGTGGACCATCTAGGATGGACTGTCTGGGGTGGACCATTCAGGGTAGACCTTCTGGGATGGACCATTTAGTGTGGACCATCCAGGGTGGATTGTCTAGGGTGGGTCATCTGGGGTGAACTGTCCAGGGGGGACCATCCAGGGTGGGTCATCTGGGATGGACTGTTCAGGGTGGACCATCCAGTGTAGATCATGTGGGGTGGACCATCTAGGGTAGACTGTCCAGGGTGGACCATCTGGGGTGGGCTGTCTGGGGTGGGCCATTCAGAGTGAACCATCTGGGATGGATCTCTAGGGTGGACCATCCAGGGTGGATCATCTGGGGTGGACCATTCAAGGTGGACCATCTAGGGTGGACCATCTGGGGTTGGTCCTCTGGGGTAGATCATCAGGGGCGGACCGTCTGGGGTATACCCTCTGGGGTTGTCTGGGGTGGGCCATCCATGGTGGACCCTCTTGGGTGGACCATCTGGGGTGGATCGTCTGGGGTGGACCATCCATGGTGGACCCTCTTGGGTGGACCGTCTGGGGTGGATCATCCAGGGTGGACTGTCTGGGGTGGACCCTCTGGGGTGGATTGTCTGGGGTAGACTGTCCGGGGCCTCTTGCAGTTTCTCTAGCTCAGGTCCCAGGCCCAGATGAGCAGGACCCTGCAGCCAGGCCCTTGTCCCTGCACCATACCCACTGTGGAGCAGCCCAGGCAAGCCCAACCCAGCTAAGTCTCTGTCTCCCTTTTCAGGGTGAGGGGCAGCCTTTTGCGAGCTCCACCTTCCCCTGCTCCAAGTCTAGGGAAATCTTTGTCAAGTTCTAGGGAGGCTCAAAATAGAACAGGGGCGGGAGAGTCAGCTGCTGTGAGTCAAGGTGGGAGAACGGGCTGAAGGTAGAGTTCCTTTTAAAGACAAATTGACAGAGTGACAAGGTAACAAGAGTATATTATTACCTGGAACTTTCCAGAATGTGTCGGTGCACTTTCTGGGACACTCCCTGGAAAACCCTCCTGGTGACATTTTCATTCCAGGAGCCTGAATGTGTCCTTAGTGGCATAGTGTTGGTGGTACTCCCAGGGTCTCTCCTCATCACTCCCCCTCCCCCTGCCATGTCCAGAGCCCCAAGCTGGAACCCATTGCCTATGGAACGCCACCTCTTTTGTGGTCCCGTCCCCAGCACACACAGGCGATGCACCTGCTTGGGCCCAGGGAGTGGGGAGAGGGCAAGGGCGTAGGCCATTCCCAGCCAGGCAGGGATGAGCCCAGGGCTGTGGGTACAGGGCCTGGGGCCCCTGCGGAGCAGACAGTGGTGCCAGTGATGTGGTGGGGTTCCCTGCCCTGGGGCAGAGGCGACAGTTTCTTAGACAGCGTCTCAGCAGTGCTAGGTGGTTTCTGCAGCTGGGCTTTCAGGAGACCCAGGAGGCGCTGGAAGTGACCACCCAGGTTCCCAGACCACAGAGTAGCCAGGCCAGGGAGCGGACAGGGTCTCTGCCCCCAGATTCCCCCCTCCCTCCTGCACCCCAACCCAGCCCTGGGTGAATGTCTCATGGCAACATACAAGATGGGTACCCCGGAAGCCAGTGCCCAGGTCACTGGCACACACCTAGGTGGGGTCTCCACCGGGCCTGCTCCTGCCAACCCTGGACCCCTAGCCCCTGACGCCTGGGAGTATGGACAAATCCAGGCAGCCCCAGCCA
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TTGGCCTCTTCTCTGTACCTCTCACTGGATTTAGGGCCCACTCCAACCCAGGGTGACCTTATCTTAAATCATTACATCTGCAGAGACCTATTTCCAATCAGATCACATGGCGAGGTTCTGGGCAGATAGGACTTTTAGGGTCACTACGGAGCTGCCGTCATTAGCTCCTTCATCCTCACGGCGGCCCTGGAGGGTTGCCGTGCCATGCAGCCATCTTGTAGGTGAGGAAGCTGAGGCTCAGAGTGGGGGACGTGAGCCCTGGGGTGTCTGACAGCAGAGCCCCCGCCAGCACCATCCGCGGGGAAGCCTCTGTTCCGGTCGCCCTGGAGTCTTGAGCACCTCCCAGCTGTGGAAACTGTTTTGTGTGGCAAGGCAGTGGAGCCTCGTCACCGGAACAAAGCAGGCGCTGGATAAGTGCAATGCGATGGTCCCATTTAGACCAGACGATAGCACATCAGCCATGCAGCCCACAGTCCATGGGAGCTCCTGCCATTGTTCATTTAACACGTGTTCAACAAGCCGGGCACCATGACTCAGCCTGTAATCCCAGCACTTCAGGACGACAAGGCAGGAGGATCGCTTGAGCCCAGGAGTTCGAGACCAGCCTGGGCAATGTAGTGAGACCCCATCTCTACAAAAAATAAAAATAAAACTAGCTGGTCATGGTGGTGATGCACCTAGAATCCCAGCTACTCAGGAGGTTGAGGCAGGAGGATGGCTTGAGCCCGGGAAGTCAAGGCTGCAGTGAGCTGTGATTGCACCACGGCACTCCAGCCTGGGTGACAGAGTGAGCCTCCGTCTCAAAAAAAAGAAAAGCCAAAGACTTTCACCTAGAGGCCAGTGGGGCCGGTGCTGGGAGGCCCCGGTGGCCTCTGTTTTGGATCTGTCCCCTTTGAGTCTCAACACCCAGAGCTTGCATCTGGGGAGCATGAGCCAGGGCAGGCAGCATCCTCAGACCAGCAGCCTCAAACCACCTGCCCCCCAGACATAGGCTCCTGACAGTGAGGCCTGCGAGTGCCTGGAAGACCGGGGTCTGAGGCCTGATTTGGCCACGCTTACCATCAAGAGAGTGATCCCCAATCCCACGGGCTGAGCCTCCCCACCCTCGGTTTACTCCACAGTCTCCAGCCGCCCCTCCTCCCTTGGTCCCCACACATCCTGCCAGCCGGGCCTGCGTCCTGCTCTGTGTCATCTGAGGCTATCAGCATCTACAGTTTCCATGTGGGAAAGGCCCCCCTAATGTAGGTGTCACCCCCCGGCCGGCCCTGCCCCAGGCCCCTAACAGACAGTCGTGTGTCAGGGCCCAGGTTCTTCACCGGGAGCCCTCGCTCCCCAGGCCTGGTCGCTGGTGCTCACCTGTTTCTCACCTGCAGTTCGAGGAGCTCGTCTACCTCTGGATGGAGCGGCAGAAGTCAGGGGGCAACTACAGCCGCCACCGTGCGCAGACGGAGAAGCACGTGGTCCTGTGTGTCAGCTCCCTCAAGATCGACCTTCTCATGGACTTCCTGAACGAGTTCTACGCCCACCCCCGGCTCCAGGTGAGGCCCCTTACCGTGGCCCAGCAGACGACTCCCTCCCGGCCCCTAGAGACGCCATCCTCTCCCCAGGACTGCTTGGCAAGTCCCTGAGTCCTCTCAGCCTTGGTTTACCCCTTCAGTGAGGGCAGATGCCTCCCTCCCGGCGCCCAGAGACGCCATCCTCTCCCCAGGACTGCCATCCTCTCCCCAGGACTGCTTGGCAAGTCCCTGAGTCCTCTCAGCCTCAGTTTACCCCTTCAGTGAGGGTGGCAGCCCACAGTCAGGTGGAGGGGCCCTGCGGGGGCCCCTCTTTTCCCTCCCACCAGATGCAAGATCACAGTGAGCTCTAGGGCCCAGAGGTGGTGGGCACAAACACAGTCCTGAAGGCAGGGCCGCCCGGGCGGGGCAGGGGCTGGCTCAGAGGGTCTGACCCTCCGCCTGGCCGGCAGGACTATTACGTGGTCATCCTGTGCCCCACGGAGATGGATGTCCAGGTGCGCAGAGTCCTGCAGATCCCTCTGTGGTCCCAGCAGGTCATCTACCTCCAGGGCTCTGCACTCAAAGACCAGGACCTCATGCGAGCCAAGTGAGTGCTGGTGGGCGGAGGGGGTGGCATGGGGGCACCTTCCTGAGTCAGGTCGGCTGCTCAGGGCTGAGGCATTGACCGTCGCTCTCCTGGCCAATGAGAGCCATGAGAGCATTATAGACTATCCCCAGGGTGGACCATCTAGGTGGACTGTCCAGGGTGGATCGTCCGGGGTGGACCATTTAGGGTGGATCGTCTGGGGTGGACCATTCAGGGTGGACCTTCTGGGATGGACCATTTAGGTGGACCATACAGGGTGGATCATCTGGAGTGAACTGTCAAGGGTGGACCATCCAGGGTGGACCATCTGGGGTGGACCATCTAGGATGGACTGTCTGGGGTGGACCATTCAGGGTAGACCTTCTGGGATGGACCATTTAGTGTGGACCATCCAGGGTGGATTGTCTAGGGTGGGTCATCTGGGGTGAACTGTCCAGGGGGGACCATCCAGGGTGGGTCATCTGGGATGGACTGTTCAGGGTGGACCATCCAGTGTAGATCATGTGGGGTGGACCATCTAGGGTAGACTGTCCAGGGTGGACCATCTGGGGTGGGCTGTCTGGGGTGGGCCATTCAGAGTGAACCATCTGGGATGGATCTCTAGGGTGGACCATCCAGGGTGGATCATCTGGGGTGGACCATTCAAGGTGGACCATCTAGGGTGGACCATCTGGGGTTGGTCCTCTGGGGTAGATCATCAGGGGCGGACCGTCTGGGGTATACCCTCTGGGGTTGTCTGGGGTGGGCCATCCATGGTGGACCCTCTTGGGTGGACCATCTGGGGTGGATCGTCTGGGGTGGACCATCCATGGTGGACCCTCTTGGGTGGACCGTCTGGGGTGGATCATCCAGGGTGGACTGTCTGGGGTGGACCCTCTGGGGTGGATTGTCTGGGGTAGACTGTCCGGGGCCTCTTGCAGTTTCTCTAGCTCAGGTCCCAGGCCCAGATGAGCAGGACCCTGCAGCCAGGCCCTTGTCCCTGCACCATACCCACTGTGGAGCAGCCCAGGCAAGCCCAACCCAGCTAAGTCTCTGTCTCCCTTTTCAGGGTGAGGGGCAGCCTTTTGCGAGCTCCACCTTCCCCTGCTCCAAGTCTAGGGAAATCTTTGTCAAGTTCTAGGGAGGCTCAAAATAGAACAGGGGCGGGAGAGTCAGCTGCTGTGAGTCAAGGTGGGAGAACGGGCTGAAGGTAGAGTTCCTTTTAAAGACAAATTGACAGAGTGACAAGGTAACAAGAGTATATTATTACCTGGAACTTTCCAGAATGTGTCGGTGCACTTTCTGGGACACTCCCTGGAAAACCCTCCTGGTGACATTTTCATTCCAGGAGCCTGAATGTGTCCTTAGTGGCATAGTGTTGGTGGTACTCCCAGGGTCTCTCCTCATCACTCCCCCTCCCCCTGCCATGTCCAGAGCCCCAAGCTGGAACCCATTGCCTATGGAACGCCACCTCTTTTGTGGTCCCGTCCCCAGCACACACAGGCGATGCACCTGCTTGGGCCCAGGGAGTGGGGAGAGGGCAAGGGCGTAGGCCATTCCCAGCCAGGCAGGGATGAGCCCAGGGCTGTGGGTACAGGGCCTGGGGCCCCTGCGGAGCAGACAGTGGTGCCAGTGATGTGGTGGGGTTCCCTGCCCTGGGGCAGAGGCGACAGTTTCTTAGACAGCGTCTCAGCAGTGCTAGGTGGTTTCTGCAGCTGGGCTTTCAGGAGACCCAGGAGGCGCTGGAAGTGACCACCCAGGTTCCCAGACCACAGAGTAGCCAGGCCAGGGAGCGGACAGGGTCTCTGCCCCCAGATTCCCCCCTCCCTCCTGCACCCCAACCCAGCCCTGGGTGAATGTCTCATGGCAACATACAAGATGGGTACCCCGGAAGCCAGTGCCCAGGTCACTGGCACACACCTAGGTGGGGTCTCCACCGGGCCTGCTCCTGCCAACCCTGGACCCCTAGCCCCTGACGCCTGGGAGTATGGACAAATCCAGGCAGCCCCAGCCA
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Task1_train_13480
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Consider this mutation in KCNT1 (potassium sodium-activated channel subfamily T member 1) on Chromosome 9. Is this a benign change or a disease-causing variant?
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Pathogenic; Developmental and epileptic encephalopathy, 14
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TTGGCCTCTTCTCTGTACCTCTCACTGGATTTAGGGCCCACTCCAACCCAGGGTGACCTTATCTTAAATCATTACATCTGCAGAGACCTATTTCCAATCAGATCACATGGCGAGGTTCTGGGCAGATAGGACTTTTAGGGTCACTACGGAGCTGCCGTCATTAGCTCCTTCATCCTCACGGCGGCCCTGGAGGGTTGCCGTGCCATGCAGCCATCTTGTAGGTGAGGAAGCTGAGGCTCAGAGTGGGGGACGTGAGCCCTGGGGTGTCTGACAGCAGAGCCCCCGCCAGCACCATCCGCGGGGAAGCCTCTGTTCCGGTCGCCCTGGAGTCTTGAGCACCTCCCAGCTGTGGAAACTGTTTTGTGTGGCAAGGCAGTGGAGCCTCGTCACCGGAACAAAGCAGGCGCTGGATAAGTGCAATGCGATGGTCCCATTTAGACCAGACGATAGCACATCAGCCATGCAGCCCACAGTCCATGGGAGCTCCTGCCATTGTTCATTTAACACGTGTTCAACAAGCCGGGCACCATGACTCAGCCTGTAATCCCAGCACTTCAGGACGACAAGGCAGGAGGATCGCTTGAGCCCAGGAGTTCGAGACCAGCCTGGGCAATGTAGTGAGACCCCATCTCTACAAAAAATAAAAATAAAACTAGCTGGTCATGGTGGTGATGCACCTAGAATCCCAGCTACTCAGGAGGTTGAGGCAGGAGGATGGCTTGAGCCCGGGAAGTCAAGGCTGCAGTGAGCTGTGATTGCACCACGGCACTCCAGCCTGGGTGACAGAGTGAGCCTCCGTCTCAAAAAAAAGAAAAGCCAAAGACTTTCACCTAGAGGCCAGTGGGGCCGGTGCTGGGAGGCCCCGGTGGCCTCTGTTTTGGATCTGTCCCCTTTGAGTCTCAACACCCAGAGCTTGCATCTGGGGAGCATGAGCCAGGGCAGGCAGCATCCTCAGACCAGCAGCCTCAAACCACCTGCCCCCCAGACATAGGCTCCTGACAGTGAGGCCTGCGAGTGCCTGGAAGACCGGGGTCTGAGGCCTGATTTGGCCACGCTTACCATCAAGAGAGTGATCCCCAATCCCACGGGCTGAGCCTCCCCACCCTCGGTTTACTCCACAGTCTCCAGCCGCCCCTCCTCCCTTGGTCCCCACACATCCTGCCAGCCGGGCCTGCGTCCTGCTCTGTGTCATCTGAGGCTATCAGCATCTACAGTTTCCATGTGGGAAAGGCCCCCCTAATGTAGGTGTCACCCCCCGGCCGGCCCTGCCCCAGGCCCCTAACAGACAGTCGTGTGTCAGGGCCCAGGTTCTTCACCGGGAGCCCTCGCTCCCCAGGCCTGGTCGCTGGTGCTCACCTGTTTCTCACCTGCAGTTCGAGGAGCTCGTCTACCTCTGGATGGAGCGGCAGAAGTCAGGGGGCAACTACAGCCGCCACCGTGCGCAGACGGAGAAGCACGTGGTCCTGTGTGTCAGCTCCCTCAAGATCGACCTTCTCATGGACTTCCTGAACGAGTTCTACGCCCACCCCCGGCTCCAGGTGAGGCCCCTTACCGTGGCCCAGCAGACGACTCCCTCCCGGCCCCTAGAGACGCCATCCTCTCCCCAGGACTGCTTGGCAAGTCCCTGAGTCCTCTCAGCCTTGGTTTACCCCTTCAGTGAGGGCAGATGCCTCCCTCCCGGCGCCCAGAGACGCCATCCTCTCCCCAGGACTGCCATCCTCTCCCCAGGACTGCTTGGCAAGTCCCTGAGTCCTCTCAGCCTCAGTTTACCCCTTCAGTGAGGGTGGCAGCCCACAGTCAGGTGGAGGGGCCCTGCGGGGGCCCCTCTTTTCCCTCCCACCAGATGCAAGATCACAGTGAGCTCTAGGGCCCAGAGGTGGTGGGCACAAACACAGTCCTGAAGGCAGGGCCGCCCGGGCGGGGCAGGGGCTGGCTCAGAGGGTCTGACCCTCCGCCTGGCCGGCAGGACTATTACGTGGTCATCCTGTGCCCCACGGAGATGGATGTCCAGGTGCGCAGAGTCCTGCAGATCCCTCTGTGGTCCCAGCGGGTCATCTACCTCCAGGGCTCTGCACTCAAAGACCAGGACCTCATGCGAGCCAAGTGAGTGCTGGTGGGCGGAGGGGGTGGCATGGGGGCACCTTCCTGAGTCAGGTCGGCTGCTCAGGGCTGAGGCATTGACCGTCGCTCTCCTGGCCAATGAGAGCCATGAGAGCATTATAGACTATCCCCAGGGTGGACCATCTAGGTGGACTGTCCAGGGTGGATCGTCCGGGGTGGACCATTTAGGGTGGATCGTCTGGGGTGGACCATTCAGGGTGGACCTTCTGGGATGGACCATTTAGGTGGACCATACAGGGTGGATCATCTGGAGTGAACTGTCAAGGGTGGACCATCCAGGGTGGACCATCTGGGGTGGACCATCTAGGATGGACTGTCTGGGGTGGACCATTCAGGGTAGACCTTCTGGGATGGACCATTTAGTGTGGACCATCCAGGGTGGATTGTCTAGGGTGGGTCATCTGGGGTGAACTGTCCAGGGGGGACCATCCAGGGTGGGTCATCTGGGATGGACTGTTCAGGGTGGACCATCCAGTGTAGATCATGTGGGGTGGACCATCTAGGGTAGACTGTCCAGGGTGGACCATCTGGGGTGGGCTGTCTGGGGTGGGCCATTCAGAGTGAACCATCTGGGATGGATCTCTAGGGTGGACCATCCAGGGTGGATCATCTGGGGTGGACCATTCAAGGTGGACCATCTAGGGTGGACCATCTGGGGTTGGTCCTCTGGGGTAGATCATCAGGGGCGGACCGTCTGGGGTATACCCTCTGGGGTTGTCTGGGGTGGGCCATCCATGGTGGACCCTCTTGGGTGGACCATCTGGGGTGGATCGTCTGGGGTGGACCATCCATGGTGGACCCTCTTGGGTGGACCGTCTGGGGTGGATCATCCAGGGTGGACTGTCTGGGGTGGACCCTCTGGGGTGGATTGTCTGGGGTAGACTGTCCGGGGCCTCTTGCAGTTTCTCTAGCTCAGGTCCCAGGCCCAGATGAGCAGGACCCTGCAGCCAGGCCCTTGTCCCTGCACCATACCCACTGTGGAGCAGCCCAGGCAAGCCCAACCCAGCTAAGTCTCTGTCTCCCTTTTCAGGGTGAGGGGCAGCCTTTTGCGAGCTCCACCTTCCCCTGCTCCAAGTCTAGGGAAATCTTTGTCAAGTTCTAGGGAGGCTCAAAATAGAACAGGGGCGGGAGAGTCAGCTGCTGTGAGTCAAGGTGGGAGAACGGGCTGAAGGTAGAGTTCCTTTTAAAGACAAATTGACAGAGTGACAAGGTAACAAGAGTATATTATTACCTGGAACTTTCCAGAATGTGTCGGTGCACTTTCTGGGACACTCCCTGGAAAACCCTCCTGGTGACATTTTCATTCCAGGAGCCTGAATGTGTCCTTAGTGGCATAGTGTTGGTGGTACTCCCAGGGTCTCTCCTCATCACTCCCCCTCCCCCTGCCATGTCCAGAGCCCCAAGCTGGAACCCATTGCCTATGGAACGCCACCTCTTTTGTGGTCCCGTCCCCAGCACACACAGGCGATGCACCTGCTTGGGCCCAGGGAGTGGGGAGAGGGCAAGGGCGTAGGCCATTCCCAGCCAGGCAGGGATGAGCCCAGGGCTGTGGGTACAGGGCCTGGGGCCCCTGCGGAGCAGACAGTGGTGCCAGTGATGTGGTGGGGTTCCCTGCCCTGGGGCAGAGGCGACAGTTTCTTAGACAGCGTCTCAGCAGTGCTAGGTGGTTTCTGCAGCTGGGCTTTCAGGAGACCCAGGAGGCGCTGGAAGTGACCACCCAGGTTCCCAGACCACAGAGTAGCCAGGCCAGGGAGCGGACAGGGTCTCTGCCCCCAGATTCCCCCCTCCCTCCTGCACCCCAACCCAGCCCTGGGTGAATGTCTCATGGCAACATACAAGATGGGTACCCCGGAAGCCAGTGCCCAGGTCACTGGCACACACCTAGGTGGGGTCTCCACCGGGCCTGCTCCTGCCAACCCTGGACCCCTAGCCCCTGACGCCTGGGAGTATGGACAAATCCAGGCAGCCCCAGCCA
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TTGGCCTCTTCTCTGTACCTCTCACTGGATTTAGGGCCCACTCCAACCCAGGGTGACCTTATCTTAAATCATTACATCTGCAGAGACCTATTTCCAATCAGATCACATGGCGAGGTTCTGGGCAGATAGGACTTTTAGGGTCACTACGGAGCTGCCGTCATTAGCTCCTTCATCCTCACGGCGGCCCTGGAGGGTTGCCGTGCCATGCAGCCATCTTGTAGGTGAGGAAGCTGAGGCTCAGAGTGGGGGACGTGAGCCCTGGGGTGTCTGACAGCAGAGCCCCCGCCAGCACCATCCGCGGGGAAGCCTCTGTTCCGGTCGCCCTGGAGTCTTGAGCACCTCCCAGCTGTGGAAACTGTTTTGTGTGGCAAGGCAGTGGAGCCTCGTCACCGGAACAAAGCAGGCGCTGGATAAGTGCAATGCGATGGTCCCATTTAGACCAGACGATAGCACATCAGCCATGCAGCCCACAGTCCATGGGAGCTCCTGCCATTGTTCATTTAACACGTGTTCAACAAGCCGGGCACCATGACTCAGCCTGTAATCCCAGCACTTCAGGACGACAAGGCAGGAGGATCGCTTGAGCCCAGGAGTTCGAGACCAGCCTGGGCAATGTAGTGAGACCCCATCTCTACAAAAAATAAAAATAAAACTAGCTGGTCATGGTGGTGATGCACCTAGAATCCCAGCTACTCAGGAGGTTGAGGCAGGAGGATGGCTTGAGCCCGGGAAGTCAAGGCTGCAGTGAGCTGTGATTGCACCACGGCACTCCAGCCTGGGTGACAGAGTGAGCCTCCGTCTCAAAAAAAAGAAAAGCCAAAGACTTTCACCTAGAGGCCAGTGGGGCCGGTGCTGGGAGGCCCCGGTGGCCTCTGTTTTGGATCTGTCCCCTTTGAGTCTCAACACCCAGAGCTTGCATCTGGGGAGCATGAGCCAGGGCAGGCAGCATCCTCAGACCAGCAGCCTCAAACCACCTGCCCCCCAGACATAGGCTCCTGACAGTGAGGCCTGCGAGTGCCTGGAAGACCGGGGTCTGAGGCCTGATTTGGCCACGCTTACCATCAAGAGAGTGATCCCCAATCCCACGGGCTGAGCCTCCCCACCCTCGGTTTACTCCACAGTCTCCAGCCGCCCCTCCTCCCTTGGTCCCCACACATCCTGCCAGCCGGGCCTGCGTCCTGCTCTGTGTCATCTGAGGCTATCAGCATCTACAGTTTCCATGTGGGAAAGGCCCCCCTAATGTAGGTGTCACCCCCCGGCCGGCCCTGCCCCAGGCCCCTAACAGACAGTCGTGTGTCAGGGCCCAGGTTCTTCACCGGGAGCCCTCGCTCCCCAGGCCTGGTCGCTGGTGCTCACCTGTTTCTCACCTGCAGTTCGAGGAGCTCGTCTACCTCTGGATGGAGCGGCAGAAGTCAGGGGGCAACTACAGCCGCCACCGTGCGCAGACGGAGAAGCACGTGGTCCTGTGTGTCAGCTCCCTCAAGATCGACCTTCTCATGGACTTCCTGAACGAGTTCTACGCCCACCCCCGGCTCCAGGTGAGGCCCCTTACCGTGGCCCAGCAGACGACTCCCTCCCGGCCCCTAGAGACGCCATCCTCTCCCCAGGACTGCTTGGCAAGTCCCTGAGTCCTCTCAGCCTTGGTTTACCCCTTCAGTGAGGGCAGATGCCTCCCTCCCGGCGCCCAGAGACGCCATCCTCTCCCCAGGACTGCCATCCTCTCCCCAGGACTGCTTGGCAAGTCCCTGAGTCCTCTCAGCCTCAGTTTACCCCTTCAGTGAGGGTGGCAGCCCACAGTCAGGTGGAGGGGCCCTGCGGGGGCCCCTCTTTTCCCTCCCACCAGATGCAAGATCACAGTGAGCTCTAGGGCCCAGAGGTGGTGGGCACAAACACAGTCCTGAAGGCAGGGCCGCCCGGGCGGGGCAGGGGCTGGCTCAGAGGGTCTGACCCTCCGCCTGGCCGGCAGGACTATTACGTGGTCATCCTGTGCCCCACGGAGATGGATGTCCAGGTGCGCAGAGTCCTGCAGATCCCTCTGTGGTCCCAGCAGGTCATCTACCTCCAGGGCTCTGCACTCAAAGACCAGGACCTCATGCGAGCCAAGTGAGTGCTGGTGGGCGGAGGGGGTGGCATGGGGGCACCTTCCTGAGTCAGGTCGGCTGCTCAGGGCTGAGGCATTGACCGTCGCTCTCCTGGCCAATGAGAGCCATGAGAGCATTATAGACTATCCCCAGGGTGGACCATCTAGGTGGACTGTCCAGGGTGGATCGTCCGGGGTGGACCATTTAGGGTGGATCGTCTGGGGTGGACCATTCAGGGTGGACCTTCTGGGATGGACCATTTAGGTGGACCATACAGGGTGGATCATCTGGAGTGAACTGTCAAGGGTGGACCATCCAGGGTGGACCATCTGGGGTGGACCATCTAGGATGGACTGTCTGGGGTGGACCATTCAGGGTAGACCTTCTGGGATGGACCATTTAGTGTGGACCATCCAGGGTGGATTGTCTAGGGTGGGTCATCTGGGGTGAACTGTCCAGGGGGGACCATCCAGGGTGGGTCATCTGGGATGGACTGTTCAGGGTGGACCATCCAGTGTAGATCATGTGGGGTGGACCATCTAGGGTAGACTGTCCAGGGTGGACCATCTGGGGTGGGCTGTCTGGGGTGGGCCATTCAGAGTGAACCATCTGGGATGGATCTCTAGGGTGGACCATCCAGGGTGGATCATCTGGGGTGGACCATTCAAGGTGGACCATCTAGGGTGGACCATCTGGGGTTGGTCCTCTGGGGTAGATCATCAGGGGCGGACCGTCTGGGGTATACCCTCTGGGGTTGTCTGGGGTGGGCCATCCATGGTGGACCCTCTTGGGTGGACCATCTGGGGTGGATCGTCTGGGGTGGACCATCCATGGTGGACCCTCTTGGGTGGACCGTCTGGGGTGGATCATCCAGGGTGGACTGTCTGGGGTGGACCCTCTGGGGTGGATTGTCTGGGGTAGACTGTCCGGGGCCTCTTGCAGTTTCTCTAGCTCAGGTCCCAGGCCCAGATGAGCAGGACCCTGCAGCCAGGCCCTTGTCCCTGCACCATACCCACTGTGGAGCAGCCCAGGCAAGCCCAACCCAGCTAAGTCTCTGTCTCCCTTTTCAGGGTGAGGGGCAGCCTTTTGCGAGCTCCACCTTCCCCTGCTCCAAGTCTAGGGAAATCTTTGTCAAGTTCTAGGGAGGCTCAAAATAGAACAGGGGCGGGAGAGTCAGCTGCTGTGAGTCAAGGTGGGAGAACGGGCTGAAGGTAGAGTTCCTTTTAAAGACAAATTGACAGAGTGACAAGGTAACAAGAGTATATTATTACCTGGAACTTTCCAGAATGTGTCGGTGCACTTTCTGGGACACTCCCTGGAAAACCCTCCTGGTGACATTTTCATTCCAGGAGCCTGAATGTGTCCTTAGTGGCATAGTGTTGGTGGTACTCCCAGGGTCTCTCCTCATCACTCCCCCTCCCCCTGCCATGTCCAGAGCCCCAAGCTGGAACCCATTGCCTATGGAACGCCACCTCTTTTGTGGTCCCGTCCCCAGCACACACAGGCGATGCACCTGCTTGGGCCCAGGGAGTGGGGAGAGGGCAAGGGCGTAGGCCATTCCCAGCCAGGCAGGGATGAGCCCAGGGCTGTGGGTACAGGGCCTGGGGCCCCTGCGGAGCAGACAGTGGTGCCAGTGATGTGGTGGGGTTCCCTGCCCTGGGGCAGAGGCGACAGTTTCTTAGACAGCGTCTCAGCAGTGCTAGGTGGTTTCTGCAGCTGGGCTTTCAGGAGACCCAGGAGGCGCTGGAAGTGACCACCCAGGTTCCCAGACCACAGAGTAGCCAGGCCAGGGAGCGGACAGGGTCTCTGCCCCCAGATTCCCCCCTCCCTCCTGCACCCCAACCCAGCCCTGGGTGAATGTCTCATGGCAACATACAAGATGGGTACCCCGGAAGCCAGTGCCCAGGTCACTGGCACACACCTAGGTGGGGTCTCCACCGGGCCTGCTCCTGCCAACCCTGGACCCCTAGCCCCTGACGCCTGGGAGTATGGACAAATCCAGGCAGCCCCAGCCA
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Task1_train_13481
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This variant affects gene KCNT1 (potassium sodium-activated channel subfamily T member 1) located on Chromosome 9. Evaluate its biological effect and specify any disease association.
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Pathogenic; See cases
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TTGGCCTCTTCTCTGTACCTCTCACTGGATTTAGGGCCCACTCCAACCCAGGGTGACCTTATCTTAAATCATTACATCTGCAGAGACCTATTTCCAATCAGATCACATGGCGAGGTTCTGGGCAGATAGGACTTTTAGGGTCACTACGGAGCTGCCGTCATTAGCTCCTTCATCCTCACGGCGGCCCTGGAGGGTTGCCGTGCCATGCAGCCATCTTGTAGGTGAGGAAGCTGAGGCTCAGAGTGGGGGACGTGAGCCCTGGGGTGTCTGACAGCAGAGCCCCCGCCAGCACCATCCGCGGGGAAGCCTCTGTTCCGGTCGCCCTGGAGTCTTGAGCACCTCCCAGCTGTGGAAACTGTTTTGTGTGGCAAGGCAGTGGAGCCTCGTCACCGGAACAAAGCAGGCGCTGGATAAGTGCAATGCGATGGTCCCATTTAGACCAGACGATAGCACATCAGCCATGCAGCCCACAGTCCATGGGAGCTCCTGCCATTGTTCATTTAACACGTGTTCAACAAGCCGGGCACCATGACTCAGCCTGTAATCCCAGCACTTCAGGACGACAAGGCAGGAGGATCGCTTGAGCCCAGGAGTTCGAGACCAGCCTGGGCAATGTAGTGAGACCCCATCTCTACAAAAAATAAAAATAAAACTAGCTGGTCATGGTGGTGATGCACCTAGAATCCCAGCTACTCAGGAGGTTGAGGCAGGAGGATGGCTTGAGCCCGGGAAGTCAAGGCTGCAGTGAGCTGTGATTGCACCACGGCACTCCAGCCTGGGTGACAGAGTGAGCCTCCGTCTCAAAAAAAAGAAAAGCCAAAGACTTTCACCTAGAGGCCAGTGGGGCCGGTGCTGGGAGGCCCCGGTGGCCTCTGTTTTGGATCTGTCCCCTTTGAGTCTCAACACCCAGAGCTTGCATCTGGGGAGCATGAGCCAGGGCAGGCAGCATCCTCAGACCAGCAGCCTCAAACCACCTGCCCCCCAGACATAGGCTCCTGACAGTGAGGCCTGCGAGTGCCTGGAAGACCGGGGTCTGAGGCCTGATTTGGCCACGCTTACCATCAAGAGAGTGATCCCCAATCCCACGGGCTGAGCCTCCCCACCCTCGGTTTACTCCACAGTCTCCAGCCGCCCCTCCTCCCTTGGTCCCCACACATCCTGCCAGCCGGGCCTGCGTCCTGCTCTGTGTCATCTGAGGCTATCAGCATCTACAGTTTCCATGTGGGAAAGGCCCCCCTAATGTAGGTGTCACCCCCCGGCCGGCCCTGCCCCAGGCCCCTAACAGACAGTCGTGTGTCAGGGCCCAGGTTCTTCACCGGGAGCCCTCGCTCCCCAGGCCTGGTCGCTGGTGCTCACCTGTTTCTCACCTGCAGTTCGAGGAGCTCGTCTACCTCTGGATGGAGCGGCAGAAGTCAGGGGGCAACTACAGCCGCCACCGTGCGCAGACGGAGAAGCACGTGGTCCTGTGTGTCAGCTCCCTCAAGATCGACCTTCTCATGGACTTCCTGAACGAGTTCTACGCCCACCCCCGGCTCCAGGTGAGGCCCCTTACCGTGGCCCAGCAGACGACTCCCTCCCGGCCCCTAGAGACGCCATCCTCTCCCCAGGACTGCTTGGCAAGTCCCTGAGTCCTCTCAGCCTTGGTTTACCCCTTCAGTGAGGGCAGATGCCTCCCTCCCGGCGCCCAGAGACGCCATCCTCTCCCCAGGACTGCCATCCTCTCCCCAGGACTGCTTGGCAAGTCCCTGAGTCCTCTCAGCCTCAGTTTACCCCTTCAGTGAGGGTGGCAGCCCACAGTCAGGTGGAGGGGCCCTGCGGGGGCCCCTCTTTTCCCTCCCACCAGATGCAAGATCACAGTGAGCTCTAGGGCCCAGAGGTGGTGGGCACAAACACAGTCCTGAAGGCAGGGCCGCCCGGGCGGGGCAGGGGCTGGCTCAGAGGGTCTGACCCTCCGCCTGGCCGGCAGGACTATTACGTGGTCATCCTGTGCCCCACGGAGATGGATGTCCAGGTGCGCAGAGTCCTGCAGATCCCTCTGTGGTCCCAGCGGGTCATCTACCTCCAGGGCTCTGCACTCAAAGACCAGGACCTCATGCGAGCCAAGTGAGTGCTGGTGGGCGGAGGGGGTGGCATGGGGGCACCTTCCTGAGTCAGGTCGGCTGCTCAGGGCTGAGGCATTGACCGTCGCTCTCCTGGCCAATGAGAGCCATGAGAGCATTATAGACTATCCCCAGGGTGGACCATCTAGGTGGACTGTCCAGGGTGGATCGTCCGGGGTGGACCATTTAGGGTGGATCGTCTGGGGTGGACCATTCAGGGTGGACCTTCTGGGATGGACCATTTAGGTGGACCATACAGGGTGGATCATCTGGAGTGAACTGTCAAGGGTGGACCATCCAGGGTGGACCATCTGGGGTGGACCATCTAGGATGGACTGTCTGGGGTGGACCATTCAGGGTAGACCTTCTGGGATGGACCATTTAGTGTGGACCATCCAGGGTGGATTGTCTAGGGTGGGTCATCTGGGGTGAACTGTCCAGGGGGGACCATCCAGGGTGGGTCATCTGGGATGGACTGTTCAGGGTGGACCATCCAGTGTAGATCATGTGGGGTGGACCATCTAGGGTAGACTGTCCAGGGTGGACCATCTGGGGTGGGCTGTCTGGGGTGGGCCATTCAGAGTGAACCATCTGGGATGGATCTCTAGGGTGGACCATCCAGGGTGGATCATCTGGGGTGGACCATTCAAGGTGGACCATCTAGGGTGGACCATCTGGGGTTGGTCCTCTGGGGTAGATCATCAGGGGCGGACCGTCTGGGGTATACCCTCTGGGGTTGTCTGGGGTGGGCCATCCATGGTGGACCCTCTTGGGTGGACCATCTGGGGTGGATCGTCTGGGGTGGACCATCCATGGTGGACCCTCTTGGGTGGACCGTCTGGGGTGGATCATCCAGGGTGGACTGTCTGGGGTGGACCCTCTGGGGTGGATTGTCTGGGGTAGACTGTCCGGGGCCTCTTGCAGTTTCTCTAGCTCAGGTCCCAGGCCCAGATGAGCAGGACCCTGCAGCCAGGCCCTTGTCCCTGCACCATACCCACTGTGGAGCAGCCCAGGCAAGCCCAACCCAGCTAAGTCTCTGTCTCCCTTTTCAGGGTGAGGGGCAGCCTTTTGCGAGCTCCACCTTCCCCTGCTCCAAGTCTAGGGAAATCTTTGTCAAGTTCTAGGGAGGCTCAAAATAGAACAGGGGCGGGAGAGTCAGCTGCTGTGAGTCAAGGTGGGAGAACGGGCTGAAGGTAGAGTTCCTTTTAAAGACAAATTGACAGAGTGACAAGGTAACAAGAGTATATTATTACCTGGAACTTTCCAGAATGTGTCGGTGCACTTTCTGGGACACTCCCTGGAAAACCCTCCTGGTGACATTTTCATTCCAGGAGCCTGAATGTGTCCTTAGTGGCATAGTGTTGGTGGTACTCCCAGGGTCTCTCCTCATCACTCCCCCTCCCCCTGCCATGTCCAGAGCCCCAAGCTGGAACCCATTGCCTATGGAACGCCACCTCTTTTGTGGTCCCGTCCCCAGCACACACAGGCGATGCACCTGCTTGGGCCCAGGGAGTGGGGAGAGGGCAAGGGCGTAGGCCATTCCCAGCCAGGCAGGGATGAGCCCAGGGCTGTGGGTACAGGGCCTGGGGCCCCTGCGGAGCAGACAGTGGTGCCAGTGATGTGGTGGGGTTCCCTGCCCTGGGGCAGAGGCGACAGTTTCTTAGACAGCGTCTCAGCAGTGCTAGGTGGTTTCTGCAGCTGGGCTTTCAGGAGACCCAGGAGGCGCTGGAAGTGACCACCCAGGTTCCCAGACCACAGAGTAGCCAGGCCAGGGAGCGGACAGGGTCTCTGCCCCCAGATTCCCCCCTCCCTCCTGCACCCCAACCCAGCCCTGGGTGAATGTCTCATGGCAACATACAAGATGGGTACCCCGGAAGCCAGTGCCCAGGTCACTGGCACACACCTAGGTGGGGTCTCCACCGGGCCTGCTCCTGCCAACCCTGGACCCCTAGCCCCTGACGCCTGGGAGTATGGACAAATCCAGGCAGCCCCAGCCA
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TTGGCCTCTTCTCTGTACCTCTCACTGGATTTAGGGCCCACTCCAACCCAGGGTGACCTTATCTTAAATCATTACATCTGCAGAGACCTATTTCCAATCAGATCACATGGCGAGGTTCTGGGCAGATAGGACTTTTAGGGTCACTACGGAGCTGCCGTCATTAGCTCCTTCATCCTCACGGCGGCCCTGGAGGGTTGCCGTGCCATGCAGCCATCTTGTAGGTGAGGAAGCTGAGGCTCAGAGTGGGGGACGTGAGCCCTGGGGTGTCTGACAGCAGAGCCCCCGCCAGCACCATCCGCGGGGAAGCCTCTGTTCCGGTCGCCCTGGAGTCTTGAGCACCTCCCAGCTGTGGAAACTGTTTTGTGTGGCAAGGCAGTGGAGCCTCGTCACCGGAACAAAGCAGGCGCTGGATAAGTGCAATGCGATGGTCCCATTTAGACCAGACGATAGCACATCAGCCATGCAGCCCACAGTCCATGGGAGCTCCTGCCATTGTTCATTTAACACGTGTTCAACAAGCCGGGCACCATGACTCAGCCTGTAATCCCAGCACTTCAGGACGACAAGGCAGGAGGATCGCTTGAGCCCAGGAGTTCGAGACCAGCCTGGGCAATGTAGTGAGACCCCATCTCTACAAAAAATAAAAATAAAACTAGCTGGTCATGGTGGTGATGCACCTAGAATCCCAGCTACTCAGGAGGTTGAGGCAGGAGGATGGCTTGAGCCCGGGAAGTCAAGGCTGCAGTGAGCTGTGATTGCACCACGGCACTCCAGCCTGGGTGACAGAGTGAGCCTCCGTCTCAAAAAAAAGAAAAGCCAAAGACTTTCACCTAGAGGCCAGTGGGGCCGGTGCTGGGAGGCCCCGGTGGCCTCTGTTTTGGATCTGTCCCCTTTGAGTCTCAACACCCAGAGCTTGCATCTGGGGAGCATGAGCCAGGGCAGGCAGCATCCTCAGACCAGCAGCCTCAAACCACCTGCCCCCCAGACATAGGCTCCTGACAGTGAGGCCTGCGAGTGCCTGGAAGACCGGGGTCTGAGGCCTGATTTGGCCACGCTTACCATCAAGAGAGTGATCCCCAATCCCACGGGCTGAGCCTCCCCACCCTCGGTTTACTCCACAGTCTCCAGCCGCCCCTCCTCCCTTGGTCCCCACACATCCTGCCAGCCGGGCCTGCGTCCTGCTCTGTGTCATCTGAGGCTATCAGCATCTACAGTTTCCATGTGGGAAAGGCCCCCCTAATGTAGGTGTCACCCCCCGGCCGGCCCTGCCCCAGGCCCCTAACAGACAGTCGTGTGTCAGGGCCCAGGTTCTTCACCGGGAGCCCTCGCTCCCCAGGCCTGGTCGCTGGTGCTCACCTGTTTCTCACCTGCAGTTCGAGGAGCTCGTCTACCTCTGGATGGAGCGGCAGAAGTCAGGGGGCAACTACAGCCGCCACCGTGCGCAGACGGAGAAGCACGTGGTCCTGTGTGTCAGCTCCCTCAAGATCGACCTTCTCATGGACTTCCTGAACGAGTTCTACGCCCACCCCCGGCTCCAGGTGAGGCCCCTTACCGTGGCCCAGCAGACGACTCCCTCCCGGCCCCTAGAGACGCCATCCTCTCCCCAGGACTGCTTGGCAAGTCCCTGAGTCCTCTCAGCCTTGGTTTACCCCTTCAGTGAGGGCAGATGCCTCCCTCCCGGCGCCCAGAGACGCCATCCTCTCCCCAGGACTGCCATCCTCTCCCCAGGACTGCTTGGCAAGTCCCTGAGTCCTCTCAGCCTCAGTTTACCCCTTCAGTGAGGGTGGCAGCCCACAGTCAGGTGGAGGGGCCCTGCGGGGGCCCCTCTTTTCCCTCCCACCAGATGCAAGATCACAGTGAGCTCTAGGGCCCAGAGGTGGTGGGCACAAACACAGTCCTGAAGGCAGGGCCGCCCGGGCGGGGCAGGGGCTGGCTCAGAGGGTCTGACCCTCCGCCTGGCCGGCAGGACTATTACGTGGTCATCCTGTGCCCCACGGAGATGGATGTCCAGGTGCGCAGAGTCCTGCAGATCCCTCTGTGGTCCCAGCAGGTCATCTACCTCCAGGGCTCTGCACTCAAAGACCAGGACCTCATGCGAGCCAAGTGAGTGCTGGTGGGCGGAGGGGGTGGCATGGGGGCACCTTCCTGAGTCAGGTCGGCTGCTCAGGGCTGAGGCATTGACCGTCGCTCTCCTGGCCAATGAGAGCCATGAGAGCATTATAGACTATCCCCAGGGTGGACCATCTAGGTGGACTGTCCAGGGTGGATCGTCCGGGGTGGACCATTTAGGGTGGATCGTCTGGGGTGGACCATTCAGGGTGGACCTTCTGGGATGGACCATTTAGGTGGACCATACAGGGTGGATCATCTGGAGTGAACTGTCAAGGGTGGACCATCCAGGGTGGACCATCTGGGGTGGACCATCTAGGATGGACTGTCTGGGGTGGACCATTCAGGGTAGACCTTCTGGGATGGACCATTTAGTGTGGACCATCCAGGGTGGATTGTCTAGGGTGGGTCATCTGGGGTGAACTGTCCAGGGGGGACCATCCAGGGTGGGTCATCTGGGATGGACTGTTCAGGGTGGACCATCCAGTGTAGATCATGTGGGGTGGACCATCTAGGGTAGACTGTCCAGGGTGGACCATCTGGGGTGGGCTGTCTGGGGTGGGCCATTCAGAGTGAACCATCTGGGATGGATCTCTAGGGTGGACCATCCAGGGTGGATCATCTGGGGTGGACCATTCAAGGTGGACCATCTAGGGTGGACCATCTGGGGTTGGTCCTCTGGGGTAGATCATCAGGGGCGGACCGTCTGGGGTATACCCTCTGGGGTTGTCTGGGGTGGGCCATCCATGGTGGACCCTCTTGGGTGGACCATCTGGGGTGGATCGTCTGGGGTGGACCATCCATGGTGGACCCTCTTGGGTGGACCGTCTGGGGTGGATCATCCAGGGTGGACTGTCTGGGGTGGACCCTCTGGGGTGGATTGTCTGGGGTAGACTGTCCGGGGCCTCTTGCAGTTTCTCTAGCTCAGGTCCCAGGCCCAGATGAGCAGGACCCTGCAGCCAGGCCCTTGTCCCTGCACCATACCCACTGTGGAGCAGCCCAGGCAAGCCCAACCCAGCTAAGTCTCTGTCTCCCTTTTCAGGGTGAGGGGCAGCCTTTTGCGAGCTCCACCTTCCCCTGCTCCAAGTCTAGGGAAATCTTTGTCAAGTTCTAGGGAGGCTCAAAATAGAACAGGGGCGGGAGAGTCAGCTGCTGTGAGTCAAGGTGGGAGAACGGGCTGAAGGTAGAGTTCCTTTTAAAGACAAATTGACAGAGTGACAAGGTAACAAGAGTATATTATTACCTGGAACTTTCCAGAATGTGTCGGTGCACTTTCTGGGACACTCCCTGGAAAACCCTCCTGGTGACATTTTCATTCCAGGAGCCTGAATGTGTCCTTAGTGGCATAGTGTTGGTGGTACTCCCAGGGTCTCTCCTCATCACTCCCCCTCCCCCTGCCATGTCCAGAGCCCCAAGCTGGAACCCATTGCCTATGGAACGCCACCTCTTTTGTGGTCCCGTCCCCAGCACACACAGGCGATGCACCTGCTTGGGCCCAGGGAGTGGGGAGAGGGCAAGGGCGTAGGCCATTCCCAGCCAGGCAGGGATGAGCCCAGGGCTGTGGGTACAGGGCCTGGGGCCCCTGCGGAGCAGACAGTGGTGCCAGTGATGTGGTGGGGTTCCCTGCCCTGGGGCAGAGGCGACAGTTTCTTAGACAGCGTCTCAGCAGTGCTAGGTGGTTTCTGCAGCTGGGCTTTCAGGAGACCCAGGAGGCGCTGGAAGTGACCACCCAGGTTCCCAGACCACAGAGTAGCCAGGCCAGGGAGCGGACAGGGTCTCTGCCCCCAGATTCCCCCCTCCCTCCTGCACCCCAACCCAGCCCTGGGTGAATGTCTCATGGCAACATACAAGATGGGTACCCCGGAAGCCAGTGCCCAGGTCACTGGCACACACCTAGGTGGGGTCTCCACCGGGCCTGCTCCTGCCAACCCTGGACCCCTAGCCCCTGACGCCTGGGAGTATGGACAAATCCAGGCAGCCCCAGCCA
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Task1_train_13482
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A variant has been detected on Chromosome 9 in KCNT1 (potassium sodium-activated channel subfamily T member 1). What is its effect — pathogenic or benign? If pathogenic, name the disease.
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Pathogenic; Autosomal dominant nocturnal frontal lobe epilepsy 5
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TTGGCCTCTTCTCTGTACCTCTCACTGGATTTAGGGCCCACTCCAACCCAGGGTGACCTTATCTTAAATCATTACATCTGCAGAGACCTATTTCCAATCAGATCACATGGCGAGGTTCTGGGCAGATAGGACTTTTAGGGTCACTACGGAGCTGCCGTCATTAGCTCCTTCATCCTCACGGCGGCCCTGGAGGGTTGCCGTGCCATGCAGCCATCTTGTAGGTGAGGAAGCTGAGGCTCAGAGTGGGGGACGTGAGCCCTGGGGTGTCTGACAGCAGAGCCCCCGCCAGCACCATCCGCGGGGAAGCCTCTGTTCCGGTCGCCCTGGAGTCTTGAGCACCTCCCAGCTGTGGAAACTGTTTTGTGTGGCAAGGCAGTGGAGCCTCGTCACCGGAACAAAGCAGGCGCTGGATAAGTGCAATGCGATGGTCCCATTTAGACCAGACGATAGCACATCAGCCATGCAGCCCACAGTCCATGGGAGCTCCTGCCATTGTTCATTTAACACGTGTTCAACAAGCCGGGCACCATGACTCAGCCTGTAATCCCAGCACTTCAGGACGACAAGGCAGGAGGATCGCTTGAGCCCAGGAGTTCGAGACCAGCCTGGGCAATGTAGTGAGACCCCATCTCTACAAAAAATAAAAATAAAACTAGCTGGTCATGGTGGTGATGCACCTAGAATCCCAGCTACTCAGGAGGTTGAGGCAGGAGGATGGCTTGAGCCCGGGAAGTCAAGGCTGCAGTGAGCTGTGATTGCACCACGGCACTCCAGCCTGGGTGACAGAGTGAGCCTCCGTCTCAAAAAAAAGAAAAGCCAAAGACTTTCACCTAGAGGCCAGTGGGGCCGGTGCTGGGAGGCCCCGGTGGCCTCTGTTTTGGATCTGTCCCCTTTGAGTCTCAACACCCAGAGCTTGCATCTGGGGAGCATGAGCCAGGGCAGGCAGCATCCTCAGACCAGCAGCCTCAAACCACCTGCCCCCCAGACATAGGCTCCTGACAGTGAGGCCTGCGAGTGCCTGGAAGACCGGGGTCTGAGGCCTGATTTGGCCACGCTTACCATCAAGAGAGTGATCCCCAATCCCACGGGCTGAGCCTCCCCACCCTCGGTTTACTCCACAGTCTCCAGCCGCCCCTCCTCCCTTGGTCCCCACACATCCTGCCAGCCGGGCCTGCGTCCTGCTCTGTGTCATCTGAGGCTATCAGCATCTACAGTTTCCATGTGGGAAAGGCCCCCCTAATGTAGGTGTCACCCCCCGGCCGGCCCTGCCCCAGGCCCCTAACAGACAGTCGTGTGTCAGGGCCCAGGTTCTTCACCGGGAGCCCTCGCTCCCCAGGCCTGGTCGCTGGTGCTCACCTGTTTCTCACCTGCAGTTCGAGGAGCTCGTCTACCTCTGGATGGAGCGGCAGAAGTCAGGGGGCAACTACAGCCGCCACCGTGCGCAGACGGAGAAGCACGTGGTCCTGTGTGTCAGCTCCCTCAAGATCGACCTTCTCATGGACTTCCTGAACGAGTTCTACGCCCACCCCCGGCTCCAGGTGAGGCCCCTTACCGTGGCCCAGCAGACGACTCCCTCCCGGCCCCTAGAGACGCCATCCTCTCCCCAGGACTGCTTGGCAAGTCCCTGAGTCCTCTCAGCCTTGGTTTACCCCTTCAGTGAGGGCAGATGCCTCCCTCCCGGCGCCCAGAGACGCCATCCTCTCCCCAGGACTGCCATCCTCTCCCCAGGACTGCTTGGCAAGTCCCTGAGTCCTCTCAGCCTCAGTTTACCCCTTCAGTGAGGGTGGCAGCCCACAGTCAGGTGGAGGGGCCCTGCGGGGGCCCCTCTTTTCCCTCCCACCAGATGCAAGATCACAGTGAGCTCTAGGGCCCAGAGGTGGTGGGCACAAACACAGTCCTGAAGGCAGGGCCGCCCGGGCGGGGCAGGGGCTGGCTCAGAGGGTCTGACCCTCCGCCTGGCCGGCAGGACTATTACGTGGTCATCCTGTGCCCCACGGAGATGGATGTCCAGGTGCGCAGAGTCCTGCAGATCCCTCTGTGGTCCCAGCGGGTCATCTACCTCCAGGGCTCTGCACTCAAAGACCAGGACCTCATGCGAGCCAAGTGAGTGCTGGTGGGCGGAGGGGGTGGCATGGGGGCACCTTCCTGAGTCAGGTCGGCTGCTCAGGGCTGAGGCATTGACCGTCGCTCTCCTGGCCAATGAGAGCCATGAGAGCATTATAGACTATCCCCAGGGTGGACCATCTAGGTGGACTGTCCAGGGTGGATCGTCCGGGGTGGACCATTTAGGGTGGATCGTCTGGGGTGGACCATTCAGGGTGGACCTTCTGGGATGGACCATTTAGGTGGACCATACAGGGTGGATCATCTGGAGTGAACTGTCAAGGGTGGACCATCCAGGGTGGACCATCTGGGGTGGACCATCTAGGATGGACTGTCTGGGGTGGACCATTCAGGGTAGACCTTCTGGGATGGACCATTTAGTGTGGACCATCCAGGGTGGATTGTCTAGGGTGGGTCATCTGGGGTGAACTGTCCAGGGGGGACCATCCAGGGTGGGTCATCTGGGATGGACTGTTCAGGGTGGACCATCCAGTGTAGATCATGTGGGGTGGACCATCTAGGGTAGACTGTCCAGGGTGGACCATCTGGGGTGGGCTGTCTGGGGTGGGCCATTCAGAGTGAACCATCTGGGATGGATCTCTAGGGTGGACCATCCAGGGTGGATCATCTGGGGTGGACCATTCAAGGTGGACCATCTAGGGTGGACCATCTGGGGTTGGTCCTCTGGGGTAGATCATCAGGGGCGGACCGTCTGGGGTATACCCTCTGGGGTTGTCTGGGGTGGGCCATCCATGGTGGACCCTCTTGGGTGGACCATCTGGGGTGGATCGTCTGGGGTGGACCATCCATGGTGGACCCTCTTGGGTGGACCGTCTGGGGTGGATCATCCAGGGTGGACTGTCTGGGGTGGACCCTCTGGGGTGGATTGTCTGGGGTAGACTGTCCGGGGCCTCTTGCAGTTTCTCTAGCTCAGGTCCCAGGCCCAGATGAGCAGGACCCTGCAGCCAGGCCCTTGTCCCTGCACCATACCCACTGTGGAGCAGCCCAGGCAAGCCCAACCCAGCTAAGTCTCTGTCTCCCTTTTCAGGGTGAGGGGCAGCCTTTTGCGAGCTCCACCTTCCCCTGCTCCAAGTCTAGGGAAATCTTTGTCAAGTTCTAGGGAGGCTCAAAATAGAACAGGGGCGGGAGAGTCAGCTGCTGTGAGTCAAGGTGGGAGAACGGGCTGAAGGTAGAGTTCCTTTTAAAGACAAATTGACAGAGTGACAAGGTAACAAGAGTATATTATTACCTGGAACTTTCCAGAATGTGTCGGTGCACTTTCTGGGACACTCCCTGGAAAACCCTCCTGGTGACATTTTCATTCCAGGAGCCTGAATGTGTCCTTAGTGGCATAGTGTTGGTGGTACTCCCAGGGTCTCTCCTCATCACTCCCCCTCCCCCTGCCATGTCCAGAGCCCCAAGCTGGAACCCATTGCCTATGGAACGCCACCTCTTTTGTGGTCCCGTCCCCAGCACACACAGGCGATGCACCTGCTTGGGCCCAGGGAGTGGGGAGAGGGCAAGGGCGTAGGCCATTCCCAGCCAGGCAGGGATGAGCCCAGGGCTGTGGGTACAGGGCCTGGGGCCCCTGCGGAGCAGACAGTGGTGCCAGTGATGTGGTGGGGTTCCCTGCCCTGGGGCAGAGGCGACAGTTTCTTAGACAGCGTCTCAGCAGTGCTAGGTGGTTTCTGCAGCTGGGCTTTCAGGAGACCCAGGAGGCGCTGGAAGTGACCACCCAGGTTCCCAGACCACAGAGTAGCCAGGCCAGGGAGCGGACAGGGTCTCTGCCCCCAGATTCCCCCCTCCCTCCTGCACCCCAACCCAGCCCTGGGTGAATGTCTCATGGCAACATACAAGATGGGTACCCCGGAAGCCAGTGCCCAGGTCACTGGCACACACCTAGGTGGGGTCTCCACCGGGCCTGCTCCTGCCAACCCTGGACCCCTAGCCCCTGACGCCTGGGAGTATGGACAAATCCAGGCAGCCCCAGCCA
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TTGGCCTCTTCTCTGTACCTCTCACTGGATTTAGGGCCCACTCCAACCCAGGGTGACCTTATCTTAAATCATTACATCTGCAGAGACCTATTTCCAATCAGATCACATGGCGAGGTTCTGGGCAGATAGGACTTTTAGGGTCACTACGGAGCTGCCGTCATTAGCTCCTTCATCCTCACGGCGGCCCTGGAGGGTTGCCGTGCCATGCAGCCATCTTGTAGGTGAGGAAGCTGAGGCTCAGAGTGGGGGACGTGAGCCCTGGGGTGTCTGACAGCAGAGCCCCCGCCAGCACCATCCGCGGGGAAGCCTCTGTTCCGGTCGCCCTGGAGTCTTGAGCACCTCCCAGCTGTGGAAACTGTTTTGTGTGGCAAGGCAGTGGAGCCTCGTCACCGGAACAAAGCAGGCGCTGGATAAGTGCAATGCGATGGTCCCATTTAGACCAGACGATAGCACATCAGCCATGCAGCCCACAGTCCATGGGAGCTCCTGCCATTGTTCATTTAACACGTGTTCAACAAGCCGGGCACCATGACTCAGCCTGTAATCCCAGCACTTCAGGACGACAAGGCAGGAGGATCGCTTGAGCCCAGGAGTTCGAGACCAGCCTGGGCAATGTAGTGAGACCCCATCTCTACAAAAAATAAAAATAAAACTAGCTGGTCATGGTGGTGATGCACCTAGAATCCCAGCTACTCAGGAGGTTGAGGCAGGAGGATGGCTTGAGCCCGGGAAGTCAAGGCTGCAGTGAGCTGTGATTGCACCACGGCACTCCAGCCTGGGTGACAGAGTGAGCCTCCGTCTCAAAAAAAAGAAAAGCCAAAGACTTTCACCTAGAGGCCAGTGGGGCCGGTGCTGGGAGGCCCCGGTGGCCTCTGTTTTGGATCTGTCCCCTTTGAGTCTCAACACCCAGAGCTTGCATCTGGGGAGCATGAGCCAGGGCAGGCAGCATCCTCAGACCAGCAGCCTCAAACCACCTGCCCCCCAGACATAGGCTCCTGACAGTGAGGCCTGCGAGTGCCTGGAAGACCGGGGTCTGAGGCCTGATTTGGCCACGCTTACCATCAAGAGAGTGATCCCCAATCCCACGGGCTGAGCCTCCCCACCCTCGGTTTACTCCACAGTCTCCAGCCGCCCCTCCTCCCTTGGTCCCCACACATCCTGCCAGCCGGGCCTGCGTCCTGCTCTGTGTCATCTGAGGCTATCAGCATCTACAGTTTCCATGTGGGAAAGGCCCCCCTAATGTAGGTGTCACCCCCCGGCCGGCCCTGCCCCAGGCCCCTAACAGACAGTCGTGTGTCAGGGCCCAGGTTCTTCACCGGGAGCCCTCGCTCCCCAGGCCTGGTCGCTGGTGCTCACCTGTTTCTCACCTGCAGTTCGAGGAGCTCGTCTACCTCTGGATGGAGCGGCAGAAGTCAGGGGGCAACTACAGCCGCCACCGTGCGCAGACGGAGAAGCACGTGGTCCTGTGTGTCAGCTCCCTCAAGATCGACCTTCTCATGGACTTCCTGAACGAGTTCTACGCCCACCCCCGGCTCCAGGTGAGGCCCCTTACCGTGGCCCAGCAGACGACTCCCTCCCGGCCCCTAGAGACGCCATCCTCTCCCCAGGACTGCTTGGCAAGTCCCTGAGTCCTCTCAGCCTTGGTTTACCCCTTCAGTGAGGGCAGATGCCTCCCTCCCGGCGCCCAGAGACGCCATCCTCTCCCCAGGACTGCCATCCTCTCCCCAGGACTGCTTGGCAAGTCCCTGAGTCCTCTCAGCCTCAGTTTACCCCTTCAGTGAGGGTGGCAGCCCACAGTCAGGTGGAGGGGCCCTGCGGGGGCCCCTCTTTTCCCTCCCACCAGATGCAAGATCACAGTGAGCTCTAGGGCCCAGAGGTGGTGGGCACAAACACAGTCCTGAAGGCAGGGCCGCCCGGGCGGGGCAGGGGCTGGCTCAGAGGGTCTGACCCTCCGCCTGGCCGGCAGGACTATTACGTGGTCATCCTGTGCCCCACGGAGATGGATGTCCAGGTGCGCAGAGTCCTGCAGATCCCTCTGTGGTCCCAGCAGGTCATCTACCTCCAGGGCTCTGCACTCAAAGACCAGGACCTCATGCGAGCCAAGTGAGTGCTGGTGGGCGGAGGGGGTGGCATGGGGGCACCTTCCTGAGTCAGGTCGGCTGCTCAGGGCTGAGGCATTGACCGTCGCTCTCCTGGCCAATGAGAGCCATGAGAGCATTATAGACTATCCCCAGGGTGGACCATCTAGGTGGACTGTCCAGGGTGGATCGTCCGGGGTGGACCATTTAGGGTGGATCGTCTGGGGTGGACCATTCAGGGTGGACCTTCTGGGATGGACCATTTAGGTGGACCATACAGGGTGGATCATCTGGAGTGAACTGTCAAGGGTGGACCATCCAGGGTGGACCATCTGGGGTGGACCATCTAGGATGGACTGTCTGGGGTGGACCATTCAGGGTAGACCTTCTGGGATGGACCATTTAGTGTGGACCATCCAGGGTGGATTGTCTAGGGTGGGTCATCTGGGGTGAACTGTCCAGGGGGGACCATCCAGGGTGGGTCATCTGGGATGGACTGTTCAGGGTGGACCATCCAGTGTAGATCATGTGGGGTGGACCATCTAGGGTAGACTGTCCAGGGTGGACCATCTGGGGTGGGCTGTCTGGGGTGGGCCATTCAGAGTGAACCATCTGGGATGGATCTCTAGGGTGGACCATCCAGGGTGGATCATCTGGGGTGGACCATTCAAGGTGGACCATCTAGGGTGGACCATCTGGGGTTGGTCCTCTGGGGTAGATCATCAGGGGCGGACCGTCTGGGGTATACCCTCTGGGGTTGTCTGGGGTGGGCCATCCATGGTGGACCCTCTTGGGTGGACCATCTGGGGTGGATCGTCTGGGGTGGACCATCCATGGTGGACCCTCTTGGGTGGACCGTCTGGGGTGGATCATCCAGGGTGGACTGTCTGGGGTGGACCCTCTGGGGTGGATTGTCTGGGGTAGACTGTCCGGGGCCTCTTGCAGTTTCTCTAGCTCAGGTCCCAGGCCCAGATGAGCAGGACCCTGCAGCCAGGCCCTTGTCCCTGCACCATACCCACTGTGGAGCAGCCCAGGCAAGCCCAACCCAGCTAAGTCTCTGTCTCCCTTTTCAGGGTGAGGGGCAGCCTTTTGCGAGCTCCACCTTCCCCTGCTCCAAGTCTAGGGAAATCTTTGTCAAGTTCTAGGGAGGCTCAAAATAGAACAGGGGCGGGAGAGTCAGCTGCTGTGAGTCAAGGTGGGAGAACGGGCTGAAGGTAGAGTTCCTTTTAAAGACAAATTGACAGAGTGACAAGGTAACAAGAGTATATTATTACCTGGAACTTTCCAGAATGTGTCGGTGCACTTTCTGGGACACTCCCTGGAAAACCCTCCTGGTGACATTTTCATTCCAGGAGCCTGAATGTGTCCTTAGTGGCATAGTGTTGGTGGTACTCCCAGGGTCTCTCCTCATCACTCCCCCTCCCCCTGCCATGTCCAGAGCCCCAAGCTGGAACCCATTGCCTATGGAACGCCACCTCTTTTGTGGTCCCGTCCCCAGCACACACAGGCGATGCACCTGCTTGGGCCCAGGGAGTGGGGAGAGGGCAAGGGCGTAGGCCATTCCCAGCCAGGCAGGGATGAGCCCAGGGCTGTGGGTACAGGGCCTGGGGCCCCTGCGGAGCAGACAGTGGTGCCAGTGATGTGGTGGGGTTCCCTGCCCTGGGGCAGAGGCGACAGTTTCTTAGACAGCGTCTCAGCAGTGCTAGGTGGTTTCTGCAGCTGGGCTTTCAGGAGACCCAGGAGGCGCTGGAAGTGACCACCCAGGTTCCCAGACCACAGAGTAGCCAGGCCAGGGAGCGGACAGGGTCTCTGCCCCCAGATTCCCCCCTCCCTCCTGCACCCCAACCCAGCCCTGGGTGAATGTCTCATGGCAACATACAAGATGGGTACCCCGGAAGCCAGTGCCCAGGTCACTGGCACACACCTAGGTGGGGTCTCCACCGGGCCTGCTCCTGCCAACCCTGGACCCCTAGCCCCTGACGCCTGGGAGTATGGACAAATCCAGGCAGCCCCAGCCA
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Task1_train_13483
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A change on Chromosome 9 affects gene KCNT1 (potassium sodium-activated channel subfamily T member 1). Identify whether the variant is neutral or disease-linked. Mention the disease if applicable.
|
Pathogenic; Developmental and epileptic encephalopathy, 14
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TTGGCCTCTTCTCTGTACCTCTCACTGGATTTAGGGCCCACTCCAACCCAGGGTGACCTTATCTTAAATCATTACATCTGCAGAGACCTATTTCCAATCAGATCACATGGCGAGGTTCTGGGCAGATAGGACTTTTAGGGTCACTACGGAGCTGCCGTCATTAGCTCCTTCATCCTCACGGCGGCCCTGGAGGGTTGCCGTGCCATGCAGCCATCTTGTAGGTGAGGAAGCTGAGGCTCAGAGTGGGGGACGTGAGCCCTGGGGTGTCTGACAGCAGAGCCCCCGCCAGCACCATCCGCGGGGAAGCCTCTGTTCCGGTCGCCCTGGAGTCTTGAGCACCTCCCAGCTGTGGAAACTGTTTTGTGTGGCAAGGCAGTGGAGCCTCGTCACCGGAACAAAGCAGGCGCTGGATAAGTGCAATGCGATGGTCCCATTTAGACCAGACGATAGCACATCAGCCATGCAGCCCACAGTCCATGGGAGCTCCTGCCATTGTTCATTTAACACGTGTTCAACAAGCCGGGCACCATGACTCAGCCTGTAATCCCAGCACTTCAGGACGACAAGGCAGGAGGATCGCTTGAGCCCAGGAGTTCGAGACCAGCCTGGGCAATGTAGTGAGACCCCATCTCTACAAAAAATAAAAATAAAACTAGCTGGTCATGGTGGTGATGCACCTAGAATCCCAGCTACTCAGGAGGTTGAGGCAGGAGGATGGCTTGAGCCCGGGAAGTCAAGGCTGCAGTGAGCTGTGATTGCACCACGGCACTCCAGCCTGGGTGACAGAGTGAGCCTCCGTCTCAAAAAAAAGAAAAGCCAAAGACTTTCACCTAGAGGCCAGTGGGGCCGGTGCTGGGAGGCCCCGGTGGCCTCTGTTTTGGATCTGTCCCCTTTGAGTCTCAACACCCAGAGCTTGCATCTGGGGAGCATGAGCCAGGGCAGGCAGCATCCTCAGACCAGCAGCCTCAAACCACCTGCCCCCCAGACATAGGCTCCTGACAGTGAGGCCTGCGAGTGCCTGGAAGACCGGGGTCTGAGGCCTGATTTGGCCACGCTTACCATCAAGAGAGTGATCCCCAATCCCACGGGCTGAGCCTCCCCACCCTCGGTTTACTCCACAGTCTCCAGCCGCCCCTCCTCCCTTGGTCCCCACACATCCTGCCAGCCGGGCCTGCGTCCTGCTCTGTGTCATCTGAGGCTATCAGCATCTACAGTTTCCATGTGGGAAAGGCCCCCCTAATGTAGGTGTCACCCCCCGGCCGGCCCTGCCCCAGGCCCCTAACAGACAGTCGTGTGTCAGGGCCCAGGTTCTTCACCGGGAGCCCTCGCTCCCCAGGCCTGGTCGCTGGTGCTCACCTGTTTCTCACCTGCAGTTCGAGGAGCTCGTCTACCTCTGGATGGAGCGGCAGAAGTCAGGGGGCAACTACAGCCGCCACCGTGCGCAGACGGAGAAGCACGTGGTCCTGTGTGTCAGCTCCCTCAAGATCGACCTTCTCATGGACTTCCTGAACGAGTTCTACGCCCACCCCCGGCTCCAGGTGAGGCCCCTTACCGTGGCCCAGCAGACGACTCCCTCCCGGCCCCTAGAGACGCCATCCTCTCCCCAGGACTGCTTGGCAAGTCCCTGAGTCCTCTCAGCCTTGGTTTACCCCTTCAGTGAGGGCAGATGCCTCCCTCCCGGCGCCCAGAGACGCCATCCTCTCCCCAGGACTGCCATCCTCTCCCCAGGACTGCTTGGCAAGTCCCTGAGTCCTCTCAGCCTCAGTTTACCCCTTCAGTGAGGGTGGCAGCCCACAGTCAGGTGGAGGGGCCCTGCGGGGGCCCCTCTTTTCCCTCCCACCAGATGCAAGATCACAGTGAGCTCTAGGGCCCAGAGGTGGTGGGCACAAACACAGTCCTGAAGGCAGGGCCGCCCGGGCGGGGCAGGGGCTGGCTCAGAGGGTCTGACCCTCCGCCTGGCCGGCAGGACTATTACGTGGTCATCCTGTGCCCCACGGAGATGGATGTCCAGGTGCGCAGAGTCCTGCAGATCCCTCTGTGGTCCCAGCGGGTCATCTACCTCCAGGGCTCTGCACTCAAAGACCAGGACCTCATGCGAGCCAAGTGAGTGCTGGTGGGCGGAGGGGGTGGCATGGGGGCACCTTCCTGAGTCAGGTCGGCTGCTCAGGGCTGAGGCATTGACCGTCGCTCTCCTGGCCAATGAGAGCCATGAGAGCATTATAGACTATCCCCAGGGTGGACCATCTAGGTGGACTGTCCAGGGTGGATCGTCCGGGGTGGACCATTTAGGGTGGATCGTCTGGGGTGGACCATTCAGGGTGGACCTTCTGGGATGGACCATTTAGGTGGACCATACAGGGTGGATCATCTGGAGTGAACTGTCAAGGGTGGACCATCCAGGGTGGACCATCTGGGGTGGACCATCTAGGATGGACTGTCTGGGGTGGACCATTCAGGGTAGACCTTCTGGGATGGACCATTTAGTGTGGACCATCCAGGGTGGATTGTCTAGGGTGGGTCATCTGGGGTGAACTGTCCAGGGGGGACCATCCAGGGTGGGTCATCTGGGATGGACTGTTCAGGGTGGACCATCCAGTGTAGATCATGTGGGGTGGACCATCTAGGGTAGACTGTCCAGGGTGGACCATCTGGGGTGGGCTGTCTGGGGTGGGCCATTCAGAGTGAACCATCTGGGATGGATCTCTAGGGTGGACCATCCAGGGTGGATCATCTGGGGTGGACCATTCAAGGTGGACCATCTAGGGTGGACCATCTGGGGTTGGTCCTCTGGGGTAGATCATCAGGGGCGGACCGTCTGGGGTATACCCTCTGGGGTTGTCTGGGGTGGGCCATCCATGGTGGACCCTCTTGGGTGGACCATCTGGGGTGGATCGTCTGGGGTGGACCATCCATGGTGGACCCTCTTGGGTGGACCGTCTGGGGTGGATCATCCAGGGTGGACTGTCTGGGGTGGACCCTCTGGGGTGGATTGTCTGGGGTAGACTGTCCGGGGCCTCTTGCAGTTTCTCTAGCTCAGGTCCCAGGCCCAGATGAGCAGGACCCTGCAGCCAGGCCCTTGTCCCTGCACCATACCCACTGTGGAGCAGCCCAGGCAAGCCCAACCCAGCTAAGTCTCTGTCTCCCTTTTCAGGGTGAGGGGCAGCCTTTTGCGAGCTCCACCTTCCCCTGCTCCAAGTCTAGGGAAATCTTTGTCAAGTTCTAGGGAGGCTCAAAATAGAACAGGGGCGGGAGAGTCAGCTGCTGTGAGTCAAGGTGGGAGAACGGGCTGAAGGTAGAGTTCCTTTTAAAGACAAATTGACAGAGTGACAAGGTAACAAGAGTATATTATTACCTGGAACTTTCCAGAATGTGTCGGTGCACTTTCTGGGACACTCCCTGGAAAACCCTCCTGGTGACATTTTCATTCCAGGAGCCTGAATGTGTCCTTAGTGGCATAGTGTTGGTGGTACTCCCAGGGTCTCTCCTCATCACTCCCCCTCCCCCTGCCATGTCCAGAGCCCCAAGCTGGAACCCATTGCCTATGGAACGCCACCTCTTTTGTGGTCCCGTCCCCAGCACACACAGGCGATGCACCTGCTTGGGCCCAGGGAGTGGGGAGAGGGCAAGGGCGTAGGCCATTCCCAGCCAGGCAGGGATGAGCCCAGGGCTGTGGGTACAGGGCCTGGGGCCCCTGCGGAGCAGACAGTGGTGCCAGTGATGTGGTGGGGTTCCCTGCCCTGGGGCAGAGGCGACAGTTTCTTAGACAGCGTCTCAGCAGTGCTAGGTGGTTTCTGCAGCTGGGCTTTCAGGAGACCCAGGAGGCGCTGGAAGTGACCACCCAGGTTCCCAGACCACAGAGTAGCCAGGCCAGGGAGCGGACAGGGTCTCTGCCCCCAGATTCCCCCCTCCCTCCTGCACCCCAACCCAGCCCTGGGTGAATGTCTCATGGCAACATACAAGATGGGTACCCCGGAAGCCAGTGCCCAGGTCACTGGCACACACCTAGGTGGGGTCTCCACCGGGCCTGCTCCTGCCAACCCTGGACCCCTAGCCCCTGACGCCTGGGAGTATGGACAAATCCAGGCAGCCCCAGCCA
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TTGGCCTCTTCTCTGTACCTCTCACTGGATTTAGGGCCCACTCCAACCCAGGGTGACCTTATCTTAAATCATTACATCTGCAGAGACCTATTTCCAATCAGATCACATGGCGAGGTTCTGGGCAGATAGGACTTTTAGGGTCACTACGGAGCTGCCGTCATTAGCTCCTTCATCCTCACGGCGGCCCTGGAGGGTTGCCGTGCCATGCAGCCATCTTGTAGGTGAGGAAGCTGAGGCTCAGAGTGGGGGACGTGAGCCCTGGGGTGTCTGACAGCAGAGCCCCCGCCAGCACCATCCGCGGGGAAGCCTCTGTTCCGGTCGCCCTGGAGTCTTGAGCACCTCCCAGCTGTGGAAACTGTTTTGTGTGGCAAGGCAGTGGAGCCTCGTCACCGGAACAAAGCAGGCGCTGGATAAGTGCAATGCGATGGTCCCATTTAGACCAGACGATAGCACATCAGCCATGCAGCCCACAGTCCATGGGAGCTCCTGCCATTGTTCATTTAACACGTGTTCAACAAGCCGGGCACCATGACTCAGCCTGTAATCCCAGCACTTCAGGACGACAAGGCAGGAGGATCGCTTGAGCCCAGGAGTTCGAGACCAGCCTGGGCAATGTAGTGAGACCCCATCTCTACAAAAAATAAAAATAAAACTAGCTGGTCATGGTGGTGATGCACCTAGAATCCCAGCTACTCAGGAGGTTGAGGCAGGAGGATGGCTTGAGCCCGGGAAGTCAAGGCTGCAGTGAGCTGTGATTGCACCACGGCACTCCAGCCTGGGTGACAGAGTGAGCCTCCGTCTCAAAAAAAAGAAAAGCCAAAGACTTTCACCTAGAGGCCAGTGGGGCCGGTGCTGGGAGGCCCCGGTGGCCTCTGTTTTGGATCTGTCCCCTTTGAGTCTCAACACCCAGAGCTTGCATCTGGGGAGCATGAGCCAGGGCAGGCAGCATCCTCAGACCAGCAGCCTCAAACCACCTGCCCCCCAGACATAGGCTCCTGACAGTGAGGCCTGCGAGTGCCTGGAAGACCGGGGTCTGAGGCCTGATTTGGCCACGCTTACCATCAAGAGAGTGATCCCCAATCCCACGGGCTGAGCCTCCCCACCCTCGGTTTACTCCACAGTCTCCAGCCGCCCCTCCTCCCTTGGTCCCCACACATCCTGCCAGCCGGGCCTGCGTCCTGCTCTGTGTCATCTGAGGCTATCAGCATCTACAGTTTCCATGTGGGAAAGGCCCCCCTAATGTAGGTGTCACCCCCCGGCCGGCCCTGCCCCAGGCCCCTAACAGACAGTCGTGTGTCAGGGCCCAGGTTCTTCACCGGGAGCCCTCGCTCCCCAGGCCTGGTCGCTGGTGCTCACCTGTTTCTCACCTGCAGTTCGAGGAGCTCGTCTACCTCTGGATGGAGCGGCAGAAGTCAGGGGGCAACTACAGCCGCCACCGTGCGCAGACGGAGAAGCACGTGGTCCTGTGTGTCAGCTCCCTCAAGATCGACCTTCTCATGGACTTCCTGAACGAGTTCTACGCCCACCCCCGGCTCCAGGTGAGGCCCCTTACCGTGGCCCAGCAGACGACTCCCTCCCGGCCCCTAGAGACGCCATCCTCTCCCCAGGACTGCTTGGCAAGTCCCTGAGTCCTCTCAGCCTTGGTTTACCCCTTCAGTGAGGGCAGATGCCTCCCTCCCGGCGCCCAGAGACGCCATCCTCTCCCCAGGACTGCCATCCTCTCCCCAGGACTGCTTGGCAAGTCCCTGAGTCCTCTCAGCCTCAGTTTACCCCTTCAGTGAGGGTGGCAGCCCACAGTCAGGTGGAGGGGCCCTGCGGGGGCCCCTCTTTTCCCTCCCACCAGATGCAAGATCACAGTGAGCTCTAGGGCCCAGAGGTGGTGGGCACAAACACAGTCCTGAAGGCAGGGCCGCCCGGGCGGGGCAGGGGCTGGCTCAGAGGGTCTGACCCTCCGCCTGGCCGGCAGGACTATTACGTGGTCATCCTGTGCCCCACGGAGATGGATGTCCAGGTGCGCAGAGTCCTGCAGATCCCTCTGTGGTCCCAGCAGGTCATCTACCTCCAGGGCTCTGCACTCAAAGACCAGGACCTCATGCGAGCCAAGTGAGTGCTGGTGGGCGGAGGGGGTGGCATGGGGGCACCTTCCTGAGTCAGGTCGGCTGCTCAGGGCTGAGGCATTGACCGTCGCTCTCCTGGCCAATGAGAGCCATGAGAGCATTATAGACTATCCCCAGGGTGGACCATCTAGGTGGACTGTCCAGGGTGGATCGTCCGGGGTGGACCATTTAGGGTGGATCGTCTGGGGTGGACCATTCAGGGTGGACCTTCTGGGATGGACCATTTAGGTGGACCATACAGGGTGGATCATCTGGAGTGAACTGTCAAGGGTGGACCATCCAGGGTGGACCATCTGGGGTGGACCATCTAGGATGGACTGTCTGGGGTGGACCATTCAGGGTAGACCTTCTGGGATGGACCATTTAGTGTGGACCATCCAGGGTGGATTGTCTAGGGTGGGTCATCTGGGGTGAACTGTCCAGGGGGGACCATCCAGGGTGGGTCATCTGGGATGGACTGTTCAGGGTGGACCATCCAGTGTAGATCATGTGGGGTGGACCATCTAGGGTAGACTGTCCAGGGTGGACCATCTGGGGTGGGCTGTCTGGGGTGGGCCATTCAGAGTGAACCATCTGGGATGGATCTCTAGGGTGGACCATCCAGGGTGGATCATCTGGGGTGGACCATTCAAGGTGGACCATCTAGGGTGGACCATCTGGGGTTGGTCCTCTGGGGTAGATCATCAGGGGCGGACCGTCTGGGGTATACCCTCTGGGGTTGTCTGGGGTGGGCCATCCATGGTGGACCCTCTTGGGTGGACCATCTGGGGTGGATCGTCTGGGGTGGACCATCCATGGTGGACCCTCTTGGGTGGACCGTCTGGGGTGGATCATCCAGGGTGGACTGTCTGGGGTGGACCCTCTGGGGTGGATTGTCTGGGGTAGACTGTCCGGGGCCTCTTGCAGTTTCTCTAGCTCAGGTCCCAGGCCCAGATGAGCAGGACCCTGCAGCCAGGCCCTTGTCCCTGCACCATACCCACTGTGGAGCAGCCCAGGCAAGCCCAACCCAGCTAAGTCTCTGTCTCCCTTTTCAGGGTGAGGGGCAGCCTTTTGCGAGCTCCACCTTCCCCTGCTCCAAGTCTAGGGAAATCTTTGTCAAGTTCTAGGGAGGCTCAAAATAGAACAGGGGCGGGAGAGTCAGCTGCTGTGAGTCAAGGTGGGAGAACGGGCTGAAGGTAGAGTTCCTTTTAAAGACAAATTGACAGAGTGACAAGGTAACAAGAGTATATTATTACCTGGAACTTTCCAGAATGTGTCGGTGCACTTTCTGGGACACTCCCTGGAAAACCCTCCTGGTGACATTTTCATTCCAGGAGCCTGAATGTGTCCTTAGTGGCATAGTGTTGGTGGTACTCCCAGGGTCTCTCCTCATCACTCCCCCTCCCCCTGCCATGTCCAGAGCCCCAAGCTGGAACCCATTGCCTATGGAACGCCACCTCTTTTGTGGTCCCGTCCCCAGCACACACAGGCGATGCACCTGCTTGGGCCCAGGGAGTGGGGAGAGGGCAAGGGCGTAGGCCATTCCCAGCCAGGCAGGGATGAGCCCAGGGCTGTGGGTACAGGGCCTGGGGCCCCTGCGGAGCAGACAGTGGTGCCAGTGATGTGGTGGGGTTCCCTGCCCTGGGGCAGAGGCGACAGTTTCTTAGACAGCGTCTCAGCAGTGCTAGGTGGTTTCTGCAGCTGGGCTTTCAGGAGACCCAGGAGGCGCTGGAAGTGACCACCCAGGTTCCCAGACCACAGAGTAGCCAGGCCAGGGAGCGGACAGGGTCTCTGCCCCCAGATTCCCCCCTCCCTCCTGCACCCCAACCCAGCCCTGGGTGAATGTCTCATGGCAACATACAAGATGGGTACCCCGGAAGCCAGTGCCCAGGTCACTGGCACACACCTAGGTGGGGTCTCCACCGGGCCTGCTCCTGCCAACCCTGGACCCCTAGCCCCTGACGCCTGGGAGTATGGACAAATCCAGGCAGCCCCAGCCA
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Task1_train_13484
|
A variant was discovered on Chromosome 9, affecting KCNT1 (potassium sodium-activated channel subfamily T member 1). What is its functional impact — neutral or pathogenic? State the disease if pathogenic.
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Pathogenic; Developmental and epileptic encephalopathy, 14
|
CCCTTTTCAGGGTGAGGGGCAGCCTTTTGCGAGCTCCACCTTCCCCTGCTCCAAGTCTAGGGAAATCTTTGTCAAGTTCTAGGGAGGCTCAAAATAGAACAGGGGCGGGAGAGTCAGCTGCTGTGAGTCAAGGTGGGAGAACGGGCTGAAGGTAGAGTTCCTTTTAAAGACAAATTGACAGAGTGACAAGGTAACAAGAGTATATTATTACCTGGAACTTTCCAGAATGTGTCGGTGCACTTTCTGGGACACTCCCTGGAAAACCCTCCTGGTGACATTTTCATTCCAGGAGCCTGAATGTGTCCTTAGTGGCATAGTGTTGGTGGTACTCCCAGGGTCTCTCCTCATCACTCCCCCTCCCCCTGCCATGTCCAGAGCCCCAAGCTGGAACCCATTGCCTATGGAACGCCACCTCTTTTGTGGTCCCGTCCCCAGCACACACAGGCGATGCACCTGCTTGGGCCCAGGGAGTGGGGAGAGGGCAAGGGCGTAGGCCATTCCCAGCCAGGCAGGGATGAGCCCAGGGCTGTGGGTACAGGGCCTGGGGCCCCTGCGGAGCAGACAGTGGTGCCAGTGATGTGGTGGGGTTCCCTGCCCTGGGGCAGAGGCGACAGTTTCTTAGACAGCGTCTCAGCAGTGCTAGGTGGTTTCTGCAGCTGGGCTTTCAGGAGACCCAGGAGGCGCTGGAAGTGACCACCCAGGTTCCCAGACCACAGAGTAGCCAGGCCAGGGAGCGGACAGGGTCTCTGCCCCCAGATTCCCCCCTCCCTCCTGCACCCCAACCCAGCCCTGGGTGAATGTCTCATGGCAACATACAAGATGGGTACCCCGGAAGCCAGTGCCCAGGTCACTGGCACACACCTAGGTGGGGTCTCCACCGGGCCTGCTCCTGCCAACCCTGGACCCCTAGCCCCTGACGCCTGGGAGTATGGACAAATCCAGGCAGCCCCAGCCAGCAGAGCCCCCTCGCACGACCTCCTGATGCCCCTCCTACCTGGCCAACTTAGGGACAAGCTGGGGGGTTGCTTCAGAGAACAGGGCCTGGGGGAGGAAGGGCAGGCACTGCCCTAGGAAGCACCATGGGCTCCCACTCAGGGCCGTGGCCAGGAGAAGCTGTCAGCTGGTGTCTCCAGGACACACCATCCATAGCATCTGACCCCCTGCCCCCACCCGCTGTCAGCCTGCACACACTCGGGGGACAGGTGTGGCTCCTGACCCCTGCCCCCACCCGCTGTCAGCCTGCACACGCTCAGGGGACAGGTGTGGCTCCTGAACCCTGCCCCCACCCTCTGTCAGCCTGCACACGCTCGGGGGACAGGTGTGGCTCCTGTGCCTTCTCGAGTGTCGGAGCTTGGAGTCTCCTAGGGTGTCCAGGAGTCCTGACCCGGCTCAGAGCCTGCCAGGGATGGGCCAGGGAGTCTGGAGAGGCCCAGGATGCCTGCGGGGGGGGGGGGGGGGGCACTGGGATACCGGTGGGGGGGGCACAGGGATGCCTGCTGGTGGAGGGCACACAAGGATGCCCGTGGGGGACACTGTGATGTGGGTTGGGGGGGGGGGGGGCAGTATGGGGATGCCCACTGAGGGGGCACTGTGACTCCTGACCAGCAGAGAGTAGGGGCCTCCTCCCGCCTTCCATCCTCCCCGCCTTCCATCCTCTCCGCCTTCCATCCAGCCGTCCTCTCAGTCTCTTTCTGTGCACCTGCTGCACCAGCCTCCTCCCAGAGGAGGTCCTCCCCACCTCACCTCCGCACCCCCGGCTGCACTGCCCACCTCCCCTGCTCCACCCACGCTCAGGCCCTGGTGCATTGCAGGATGGACAATGGGGAGGCCTGCTTCATCCTCAGCAGCAGGAACGAGGTGGACCGCACGGCTGCAGTGAGTGAGGCTGAGGCCCTGCCCAGGCGGGAGGGGCACCGTGGGGCCGGGGAGCGGGGGTCCCTGAGGGAAGAGACCTGCCCCAGGCTGCCGGTGCCGCCCAGCAGCCCACAGAGGCCAGCCCGTCTGCACTGACCAACCACCCACCCCGCCAGGACCACCAGACCATCCTGCGCGCCTGGGCCGTGAAGGACTTCGCCCCCAACTGCCCCCTCTACGTCCAGATCCTCAAACCTGAAAACAAGTTTCACGTCAAGTTTGCTGGTGCGTCTGGGGCACACGTGGGTGATGGTGTATCTGGGGCAGGGCACGTGTGCACACGTGGGTGATGGTGCATCTGGGGCAGGGCGCATGTGCACATGTGTGACGGTGCGTCTGGGGCAGGACGCGTGTGCACACGTGGGTGACGGTGCGTCTGGGGCAGGATGCGTGTGCACACGTGGGTGTCGGTGCGTCTGGGGCAGGGCGCATGTGCACACGTGGGTGACGGTGCGTCTGGGGCAGGGCGCGTGTGCACACGTGGGTGACAGTGCATCTGGGGCAGGGCACGTGTGCACGTGTGTGTCGGTGTGTCTGGGGCAGGGCGCGTGTGCATGCTGTTGGGTGATGGTGCGTCTGGGGCAGGGCGCGTGTGCACACGTGGGTGACGGTGTGTCTGGGGCAGGGCGCATGTGCACGCAGTTAGGCGAGCTGTGTGGGGCAGCGGGAGGGGCTGGCCCTGGAGCTCCTCACACAAGCACACCAGGAGGTGCTGGAGGGGACGGCAGACCCCCATCCTCACCGCATCCGAGAAGGGACCTAGGGGGTCCAAACTCTTCAGATGAAGTCTTATGCTGGGATCCTGGGGTCAGTGAAGGCAGGGTCAGAGGTCAGGTGGGGGCAGGAGCACCGTCTGATGAGCACCTCTATGGGCAGGGACCATGCCGGGTGCCCGGGGAACGGGGGGCAGGCCCCATGCCAGGTGCCCAGGGGACAGGGGTCAGGGCCCACATGGAGTGCCCAAGGCACAGGGGCCAGGGCCTGCCCCGCCCTGGAACTCCTCGCTGAGCTGGGAGAGAAGCACAGGAGCGATGGAAGGTCCACCGAGGCTCAGACCAAGTAGGGGGTTGAGGTCCACAGACTCTCGGGGCAGAGATGCTGAAGCCGGACAGCAGACACGGGGGTGCCAGGCAAGGGTGCATCTGCATAGCACCTTCAGGAAGTGAGCAGGTACTGTGGGGGAGGAGAGAGCCGGCAGAGCGGCAGGTGGACCGGCCTCCCCCACTGCCCGCAGACCACGTGGTGTGTGAGGAGGAGTGCAAGTACGCCATGCTGGCGCTGAACTGCATCTGCCCGGCGACCTCCACCCTCATCACCCTGCTGGTGCACACGTCCCGCGGCCAGTGAGTGCCCCGTGCCCCGGGGGACCGACCTCCATGGCGGGGCCGGCGCAGGGAGACAACGCAGGGCCTGCTTGGGGGCGGGGATGGGCTTCCCAGAGGAGGGGCACATGGCGGGCAAAAGTCCTGCATAGGGAGGGGATCCATGCCAGGGGAAGCAGAGGGGGGCACCTGCAGACCCAGCCGGGGAGAAGGGGCAGCCATGGCCGAGGGTGACGCTCCCCTGGCCCCGCCCTGGCCCACAGGGAGGGACAGGAGTCTCCGGAGCAGTGGCAGCGCATGTATGGGCGCTGCTCCGGCAACGAGGTGTACCACATCCGCATGGGTGACAGCAAGTTCTTCCGCGAGTACGAGGGCAAGAGCTTCACCTACGCGGCCTTCCACGCCCACAAGAAGTAAGGCCGGGCTGCATCCACAGGGCTGGCGCTCCAGGGCTGCTCTGCTCTGTGCCCTCCCCACCCTCCCGGTCAGGCACAGGGGTGGCCCTGGGGCGGGGCTGCAGAGGGCTCGGGGGAGGGCATCAGGTCATCCTGCCTGGCGAGGGCAGCCGCAGGACTGGGCTCCGGGTCCACATAAAAACCTGCCACGCGGCTCCTCCCTGAGGCTTGTGGGCTGACCCCAGCTCTCTGGTCCCCAACACCTCTGGGACGGGAGGGCTCAGCCAAGGTCCCTGACCCCAAATGGCCCCCAGGAGGAAGACGCGGAGCTCCGGTGGGGACTCTGGTGATTTGCAGGAAGGGCAGGCAGGGAGCGGGACAGGGCGGGTGAGCGGCGGTACCTGAAGTTGCCGGTGCCTCTGCCCAGGTATGGCGTGTGCCTCATCGGGCTGAAGCGGGAGGACA
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CCCTTTTCAGGGTGAGGGGCAGCCTTTTGCGAGCTCCACCTTCCCCTGCTCCAAGTCTAGGGAAATCTTTGTCAAGTTCTAGGGAGGCTCAAAATAGAACAGGGGCGGGAGAGTCAGCTGCTGTGAGTCAAGGTGGGAGAACGGGCTGAAGGTAGAGTTCCTTTTAAAGACAAATTGACAGAGTGACAAGGTAACAAGAGTATATTATTACCTGGAACTTTCCAGAATGTGTCGGTGCACTTTCTGGGACACTCCCTGGAAAACCCTCCTGGTGACATTTTCATTCCAGGAGCCTGAATGTGTCCTTAGTGGCATAGTGTTGGTGGTACTCCCAGGGTCTCTCCTCATCACTCCCCCTCCCCCTGCCATGTCCAGAGCCCCAAGCTGGAACCCATTGCCTATGGAACGCCACCTCTTTTGTGGTCCCGTCCCCAGCACACACAGGCGATGCACCTGCTTGGGCCCAGGGAGTGGGGAGAGGGCAAGGGCGTAGGCCATTCCCAGCCAGGCAGGGATGAGCCCAGGGCTGTGGGTACAGGGCCTGGGGCCCCTGCGGAGCAGACAGTGGTGCCAGTGATGTGGTGGGGTTCCCTGCCCTGGGGCAGAGGCGACAGTTTCTTAGACAGCGTCTCAGCAGTGCTAGGTGGTTTCTGCAGCTGGGCTTTCAGGAGACCCAGGAGGCGCTGGAAGTGACCACCCAGGTTCCCAGACCACAGAGTAGCCAGGCCAGGGAGCGGACAGGGTCTCTGCCCCCAGATTCCCCCCTCCCTCCTGCACCCCAACCCAGCCCTGGGTGAATGTCTCATGGCAACATACAAGATGGGTACCCCGGAAGCCAGTGCCCAGGTCACTGGCACACACCTAGGTGGGGTCTCCACCGGGCCTGCTCCTGCCAACCCTGGACCCCTAGCCCCTGACGCCTGGGAGTATGGACAAATCCAGGCAGCCCCAGCCAGCAGAGCCCCCTCGCACGACCTCCTGATGCCCCTCCTACCTGGCCAACTTAGGGACAAGCTGGGGGGTTGCTTCAGAGAACAGGGCCTGGGGGAGGAAGGGCAGGCACTGCCCTAGGAAGCACCATGGGCTCCCACTCAGGGCCGTGGCCAGGAGAAGCTGTCAGCTGGTGTCTCCAGGACACACCATCCATAGCATCTGACCCCCTGCCCCCACCCGCTGTCAGCCTGCACACACTCGGGGGACAGGTGTGGCTCCTGACCCCTGCCCCCACCCGCTGTCAGCCTGCACACGCTCAGGGGACAGGTGTGGCTCCTGAACCCTGCCCCCACCCTCTGTCAGCCTGCACACGCTCGGGGGACAGGTGTGGCTCCTGTGCCTTCTCGAGTGTCGGAGCTTGGAGTCTCCTAGGGTGTCCAGGAGTCCTGACCCGGCTCAGAGCCTGCCAGGGATGGGCCAGGGAGTCTGGAGAGGCCCAGGATGCCTGCGGGGGGGGGGGGGGGGGCACTGGGATACCGGTGGGGGGGGCACAGGGATGCCTGCTGGTGGAGGGCACACAAGGATGCCCGTGGGGGACACTGTGATGTGGGTTGGGGGGGGGGGGGGCAGTATGGGGATGCCCACTGAGGGGGCACTGTGACTCCTGACCAGCAGAGAGTAGGGGCCTCCTCCCGCCTTCCATCCTCCCCGCCTTCCATCCTCTCCGCCTTCCATCCAGCCGTCCTCTCAGTCTCTTTCTGTGCACCTGCTGCACCAGCCTCCTCCCAGAGGAGGTCCTCCCCACCTCACCTCCGCACCCCCGGCTGCACTGCCCACCTCCCCTGCTCCACCCACGCTCAGGCCCTGGTGCATTGCAGGATGGACAATGGGGAGGCCTGCTTCATCCTCAGCAGCAGGAACGAGGTGGACCGCACGGCTGCAGTGAGTGAGGCTGAGGCCCTGCCCAGGCGGGAGGGGCACCGTGGGGCCGGGGAGCGGGGGTCCCTGAGGGAAGAGACCTGCCCCAGGCTGCCGGTGCCGCCCAGCAGCCCACAGAGGCCAGCCCGTCTGCACTGACCAACCACCCACCCCGCCAGGACCACCAGACCATCCTGTGCGCCTGGGCCGTGAAGGACTTCGCCCCCAACTGCCCCCTCTACGTCCAGATCCTCAAACCTGAAAACAAGTTTCACGTCAAGTTTGCTGGTGCGTCTGGGGCACACGTGGGTGATGGTGTATCTGGGGCAGGGCACGTGTGCACACGTGGGTGATGGTGCATCTGGGGCAGGGCGCATGTGCACATGTGTGACGGTGCGTCTGGGGCAGGACGCGTGTGCACACGTGGGTGACGGTGCGTCTGGGGCAGGATGCGTGTGCACACGTGGGTGTCGGTGCGTCTGGGGCAGGGCGCATGTGCACACGTGGGTGACGGTGCGTCTGGGGCAGGGCGCGTGTGCACACGTGGGTGACAGTGCATCTGGGGCAGGGCACGTGTGCACGTGTGTGTCGGTGTGTCTGGGGCAGGGCGCGTGTGCATGCTGTTGGGTGATGGTGCGTCTGGGGCAGGGCGCGTGTGCACACGTGGGTGACGGTGTGTCTGGGGCAGGGCGCATGTGCACGCAGTTAGGCGAGCTGTGTGGGGCAGCGGGAGGGGCTGGCCCTGGAGCTCCTCACACAAGCACACCAGGAGGTGCTGGAGGGGACGGCAGACCCCCATCCTCACCGCATCCGAGAAGGGACCTAGGGGGTCCAAACTCTTCAGATGAAGTCTTATGCTGGGATCCTGGGGTCAGTGAAGGCAGGGTCAGAGGTCAGGTGGGGGCAGGAGCACCGTCTGATGAGCACCTCTATGGGCAGGGACCATGCCGGGTGCCCGGGGAACGGGGGGCAGGCCCCATGCCAGGTGCCCAGGGGACAGGGGTCAGGGCCCACATGGAGTGCCCAAGGCACAGGGGCCAGGGCCTGCCCCGCCCTGGAACTCCTCGCTGAGCTGGGAGAGAAGCACAGGAGCGATGGAAGGTCCACCGAGGCTCAGACCAAGTAGGGGGTTGAGGTCCACAGACTCTCGGGGCAGAGATGCTGAAGCCGGACAGCAGACACGGGGGTGCCAGGCAAGGGTGCATCTGCATAGCACCTTCAGGAAGTGAGCAGGTACTGTGGGGGAGGAGAGAGCCGGCAGAGCGGCAGGTGGACCGGCCTCCCCCACTGCCCGCAGACCACGTGGTGTGTGAGGAGGAGTGCAAGTACGCCATGCTGGCGCTGAACTGCATCTGCCCGGCGACCTCCACCCTCATCACCCTGCTGGTGCACACGTCCCGCGGCCAGTGAGTGCCCCGTGCCCCGGGGGACCGACCTCCATGGCGGGGCCGGCGCAGGGAGACAACGCAGGGCCTGCTTGGGGGCGGGGATGGGCTTCCCAGAGGAGGGGCACATGGCGGGCAAAAGTCCTGCATAGGGAGGGGATCCATGCCAGGGGAAGCAGAGGGGGGCACCTGCAGACCCAGCCGGGGAGAAGGGGCAGCCATGGCCGAGGGTGACGCTCCCCTGGCCCCGCCCTGGCCCACAGGGAGGGACAGGAGTCTCCGGAGCAGTGGCAGCGCATGTATGGGCGCTGCTCCGGCAACGAGGTGTACCACATCCGCATGGGTGACAGCAAGTTCTTCCGCGAGTACGAGGGCAAGAGCTTCACCTACGCGGCCTTCCACGCCCACAAGAAGTAAGGCCGGGCTGCATCCACAGGGCTGGCGCTCCAGGGCTGCTCTGCTCTGTGCCCTCCCCACCCTCCCGGTCAGGCACAGGGGTGGCCCTGGGGCGGGGCTGCAGAGGGCTCGGGGGAGGGCATCAGGTCATCCTGCCTGGCGAGGGCAGCCGCAGGACTGGGCTCCGGGTCCACATAAAAACCTGCCACGCGGCTCCTCCCTGAGGCTTGTGGGCTGACCCCAGCTCTCTGGTCCCCAACACCTCTGGGACGGGAGGGCTCAGCCAAGGTCCCTGACCCCAAATGGCCCCCAGGAGGAAGACGCGGAGCTCCGGTGGGGACTCTGGTGATTTGCAGGAAGGGCAGGCAGGGAGCGGGACAGGGCGGGTGAGCGGCGGTACCTGAAGTTGCCGGTGCCTCTGCCCAGGTATGGCGTGTGCCTCATCGGGCTGAAGCGGGAGGACA
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Task1_train_13485
|
Gene KCNT1 (potassium sodium-activated channel subfamily T member 1) on Chromosome 9 is altered by this variant. Does this mutation result in a disease or is it benign?
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Pathogenic; Developmental and epileptic encephalopathy, 14
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CCCTTTTCAGGGTGAGGGGCAGCCTTTTGCGAGCTCCACCTTCCCCTGCTCCAAGTCTAGGGAAATCTTTGTCAAGTTCTAGGGAGGCTCAAAATAGAACAGGGGCGGGAGAGTCAGCTGCTGTGAGTCAAGGTGGGAGAACGGGCTGAAGGTAGAGTTCCTTTTAAAGACAAATTGACAGAGTGACAAGGTAACAAGAGTATATTATTACCTGGAACTTTCCAGAATGTGTCGGTGCACTTTCTGGGACACTCCCTGGAAAACCCTCCTGGTGACATTTTCATTCCAGGAGCCTGAATGTGTCCTTAGTGGCATAGTGTTGGTGGTACTCCCAGGGTCTCTCCTCATCACTCCCCCTCCCCCTGCCATGTCCAGAGCCCCAAGCTGGAACCCATTGCCTATGGAACGCCACCTCTTTTGTGGTCCCGTCCCCAGCACACACAGGCGATGCACCTGCTTGGGCCCAGGGAGTGGGGAGAGGGCAAGGGCGTAGGCCATTCCCAGCCAGGCAGGGATGAGCCCAGGGCTGTGGGTACAGGGCCTGGGGCCCCTGCGGAGCAGACAGTGGTGCCAGTGATGTGGTGGGGTTCCCTGCCCTGGGGCAGAGGCGACAGTTTCTTAGACAGCGTCTCAGCAGTGCTAGGTGGTTTCTGCAGCTGGGCTTTCAGGAGACCCAGGAGGCGCTGGAAGTGACCACCCAGGTTCCCAGACCACAGAGTAGCCAGGCCAGGGAGCGGACAGGGTCTCTGCCCCCAGATTCCCCCCTCCCTCCTGCACCCCAACCCAGCCCTGGGTGAATGTCTCATGGCAACATACAAGATGGGTACCCCGGAAGCCAGTGCCCAGGTCACTGGCACACACCTAGGTGGGGTCTCCACCGGGCCTGCTCCTGCCAACCCTGGACCCCTAGCCCCTGACGCCTGGGAGTATGGACAAATCCAGGCAGCCCCAGCCAGCAGAGCCCCCTCGCACGACCTCCTGATGCCCCTCCTACCTGGCCAACTTAGGGACAAGCTGGGGGGTTGCTTCAGAGAACAGGGCCTGGGGGAGGAAGGGCAGGCACTGCCCTAGGAAGCACCATGGGCTCCCACTCAGGGCCGTGGCCAGGAGAAGCTGTCAGCTGGTGTCTCCAGGACACACCATCCATAGCATCTGACCCCCTGCCCCCACCCGCTGTCAGCCTGCACACACTCGGGGGACAGGTGTGGCTCCTGACCCCTGCCCCCACCCGCTGTCAGCCTGCACACGCTCAGGGGACAGGTGTGGCTCCTGAACCCTGCCCCCACCCTCTGTCAGCCTGCACACGCTCGGGGGACAGGTGTGGCTCCTGTGCCTTCTCGAGTGTCGGAGCTTGGAGTCTCCTAGGGTGTCCAGGAGTCCTGACCCGGCTCAGAGCCTGCCAGGGATGGGCCAGGGAGTCTGGAGAGGCCCAGGATGCCTGCGGGGGGGGGGGGGGGGGCACTGGGATACCGGTGGGGGGGGCACAGGGATGCCTGCTGGTGGAGGGCACACAAGGATGCCCGTGGGGGACACTGTGATGTGGGTTGGGGGGGGGGGGGGCAGTATGGGGATGCCCACTGAGGGGGCACTGTGACTCCTGACCAGCAGAGAGTAGGGGCCTCCTCCCGCCTTCCATCCTCCCCGCCTTCCATCCTCTCCGCCTTCCATCCAGCCGTCCTCTCAGTCTCTTTCTGTGCACCTGCTGCACCAGCCTCCTCCCAGAGGAGGTCCTCCCCACCTCACCTCCGCACCCCCGGCTGCACTGCCCACCTCCCCTGCTCCACCCACGCTCAGGCCCTGGTGCATTGCAGGATGGACAATGGGGAGGCCTGCTTCATCCTCAGCAGCAGGAACGAGGTGGACCGCACGGCTGCAGTGAGTGAGGCTGAGGCCCTGCCCAGGCGGGAGGGGCACCGTGGGGCCGGGGAGCGGGGGTCCCTGAGGGAAGAGACCTGCCCCAGGCTGCCGGTGCCGCCCAGCAGCCCACAGAGGCCAGCCCGTCTGCACTGACCAACCACCCACCCCGCCAGGACCACCAGACCATCCTGCGCGCCTGGGCCGTGAAGGACTTCGCCCCCAACTGCCCCCTCTACGTCCAGATCCTCAAACCTGAAAACAAGTTTCACGTCAAGTTTGCTGGTGCGTCTGGGGCACACGTGGGTGATGGTGTATCTGGGGCAGGGCACGTGTGCACACGTGGGTGATGGTGCATCTGGGGCAGGGCGCATGTGCACATGTGTGACGGTGCGTCTGGGGCAGGACGCGTGTGCACACGTGGGTGACGGTGCGTCTGGGGCAGGATGCGTGTGCACACGTGGGTGTCGGTGCGTCTGGGGCAGGGCGCATGTGCACACGTGGGTGACGGTGCGTCTGGGGCAGGGCGCGTGTGCACACGTGGGTGACAGTGCATCTGGGGCAGGGCACGTGTGCACGTGTGTGTCGGTGTGTCTGGGGCAGGGCGCGTGTGCATGCTGTTGGGTGATGGTGCGTCTGGGGCAGGGCGCGTGTGCACACGTGGGTGACGGTGTGTCTGGGGCAGGGCGCATGTGCACGCAGTTAGGCGAGCTGTGTGGGGCAGCGGGAGGGGCTGGCCCTGGAGCTCCTCACACAAGCACACCAGGAGGTGCTGGAGGGGACGGCAGACCCCCATCCTCACCGCATCCGAGAAGGGACCTAGGGGGTCCAAACTCTTCAGATGAAGTCTTATGCTGGGATCCTGGGGTCAGTGAAGGCAGGGTCAGAGGTCAGGTGGGGGCAGGAGCACCGTCTGATGAGCACCTCTATGGGCAGGGACCATGCCGGGTGCCCGGGGAACGGGGGGCAGGCCCCATGCCAGGTGCCCAGGGGACAGGGGTCAGGGCCCACATGGAGTGCCCAAGGCACAGGGGCCAGGGCCTGCCCCGCCCTGGAACTCCTCGCTGAGCTGGGAGAGAAGCACAGGAGCGATGGAAGGTCCACCGAGGCTCAGACCAAGTAGGGGGTTGAGGTCCACAGACTCTCGGGGCAGAGATGCTGAAGCCGGACAGCAGACACGGGGGTGCCAGGCAAGGGTGCATCTGCATAGCACCTTCAGGAAGTGAGCAGGTACTGTGGGGGAGGAGAGAGCCGGCAGAGCGGCAGGTGGACCGGCCTCCCCCACTGCCCGCAGACCACGTGGTGTGTGAGGAGGAGTGCAAGTACGCCATGCTGGCGCTGAACTGCATCTGCCCGGCGACCTCCACCCTCATCACCCTGCTGGTGCACACGTCCCGCGGCCAGTGAGTGCCCCGTGCCCCGGGGGACCGACCTCCATGGCGGGGCCGGCGCAGGGAGACAACGCAGGGCCTGCTTGGGGGCGGGGATGGGCTTCCCAGAGGAGGGGCACATGGCGGGCAAAAGTCCTGCATAGGGAGGGGATCCATGCCAGGGGAAGCAGAGGGGGGCACCTGCAGACCCAGCCGGGGAGAAGGGGCAGCCATGGCCGAGGGTGACGCTCCCCTGGCCCCGCCCTGGCCCACAGGGAGGGACAGGAGTCTCCGGAGCAGTGGCAGCGCATGTATGGGCGCTGCTCCGGCAACGAGGTGTACCACATCCGCATGGGTGACAGCAAGTTCTTCCGCGAGTACGAGGGCAAGAGCTTCACCTACGCGGCCTTCCACGCCCACAAGAAGTAAGGCCGGGCTGCATCCACAGGGCTGGCGCTCCAGGGCTGCTCTGCTCTGTGCCCTCCCCACCCTCCCGGTCAGGCACAGGGGTGGCCCTGGGGCGGGGCTGCAGAGGGCTCGGGGGAGGGCATCAGGTCATCCTGCCTGGCGAGGGCAGCCGCAGGACTGGGCTCCGGGTCCACATAAAAACCTGCCACGCGGCTCCTCCCTGAGGCTTGTGGGCTGACCCCAGCTCTCTGGTCCCCAACACCTCTGGGACGGGAGGGCTCAGCCAAGGTCCCTGACCCCAAATGGCCCCCAGGAGGAAGACGCGGAGCTCCGGTGGGGACTCTGGTGATTTGCAGGAAGGGCAGGCAGGGAGCGGGACAGGGCGGGTGAGCGGCGGTACCTGAAGTTGCCGGTGCCTCTGCCCAGGTATGGCGTGTGCCTCATCGGGCTGAAGCGGGAGGACA
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CCCTTTTCAGGGTGAGGGGCAGCCTTTTGCGAGCTCCACCTTCCCCTGCTCCAAGTCTAGGGAAATCTTTGTCAAGTTCTAGGGAGGCTCAAAATAGAACAGGGGCGGGAGAGTCAGCTGCTGTGAGTCAAGGTGGGAGAACGGGCTGAAGGTAGAGTTCCTTTTAAAGACAAATTGACAGAGTGACAAGGTAACAAGAGTATATTATTACCTGGAACTTTCCAGAATGTGTCGGTGCACTTTCTGGGACACTCCCTGGAAAACCCTCCTGGTGACATTTTCATTCCAGGAGCCTGAATGTGTCCTTAGTGGCATAGTGTTGGTGGTACTCCCAGGGTCTCTCCTCATCACTCCCCCTCCCCCTGCCATGTCCAGAGCCCCAAGCTGGAACCCATTGCCTATGGAACGCCACCTCTTTTGTGGTCCCGTCCCCAGCACACACAGGCGATGCACCTGCTTGGGCCCAGGGAGTGGGGAGAGGGCAAGGGCGTAGGCCATTCCCAGCCAGGCAGGGATGAGCCCAGGGCTGTGGGTACAGGGCCTGGGGCCCCTGCGGAGCAGACAGTGGTGCCAGTGATGTGGTGGGGTTCCCTGCCCTGGGGCAGAGGCGACAGTTTCTTAGACAGCGTCTCAGCAGTGCTAGGTGGTTTCTGCAGCTGGGCTTTCAGGAGACCCAGGAGGCGCTGGAAGTGACCACCCAGGTTCCCAGACCACAGAGTAGCCAGGCCAGGGAGCGGACAGGGTCTCTGCCCCCAGATTCCCCCCTCCCTCCTGCACCCCAACCCAGCCCTGGGTGAATGTCTCATGGCAACATACAAGATGGGTACCCCGGAAGCCAGTGCCCAGGTCACTGGCACACACCTAGGTGGGGTCTCCACCGGGCCTGCTCCTGCCAACCCTGGACCCCTAGCCCCTGACGCCTGGGAGTATGGACAAATCCAGGCAGCCCCAGCCAGCAGAGCCCCCTCGCACGACCTCCTGATGCCCCTCCTACCTGGCCAACTTAGGGACAAGCTGGGGGGTTGCTTCAGAGAACAGGGCCTGGGGGAGGAAGGGCAGGCACTGCCCTAGGAAGCACCATGGGCTCCCACTCAGGGCCGTGGCCAGGAGAAGCTGTCAGCTGGTGTCTCCAGGACACACCATCCATAGCATCTGACCCCCTGCCCCCACCCGCTGTCAGCCTGCACACACTCGGGGGACAGGTGTGGCTCCTGACCCCTGCCCCCACCCGCTGTCAGCCTGCACACGCTCAGGGGACAGGTGTGGCTCCTGAACCCTGCCCCCACCCTCTGTCAGCCTGCACACGCTCGGGGGACAGGTGTGGCTCCTGTGCCTTCTCGAGTGTCGGAGCTTGGAGTCTCCTAGGGTGTCCAGGAGTCCTGACCCGGCTCAGAGCCTGCCAGGGATGGGCCAGGGAGTCTGGAGAGGCCCAGGATGCCTGCGGGGGGGGGGGGGGGGGCACTGGGATACCGGTGGGGGGGGCACAGGGATGCCTGCTGGTGGAGGGCACACAAGGATGCCCGTGGGGGACACTGTGATGTGGGTTGGGGGGGGGGGGGGCAGTATGGGGATGCCCACTGAGGGGGCACTGTGACTCCTGACCAGCAGAGAGTAGGGGCCTCCTCCCGCCTTCCATCCTCCCCGCCTTCCATCCTCTCCGCCTTCCATCCAGCCGTCCTCTCAGTCTCTTTCTGTGCACCTGCTGCACCAGCCTCCTCCCAGAGGAGGTCCTCCCCACCTCACCTCCGCACCCCCGGCTGCACTGCCCACCTCCCCTGCTCCACCCACGCTCAGGCCCTGGTGCATTGCAGGATGGACAATGGGGAGGCCTGCTTCATCCTCAGCAGCAGGAACGAGGTGGACCGCACGGCTGCAGTGAGTGAGGCTGAGGCCCTGCCCAGGCGGGAGGGGCACCGTGGGGCCGGGGAGCGGGGGTCCCTGAGGGAAGAGACCTGCCCCAGGCTGCCGGTGCCGCCCAGCAGCCCACAGAGGCCAGCCCGTCTGCACTGACCAACCACCCACCCCGCCAGGACCACCAGACCATCCTGTGCGCCTGGGCCGTGAAGGACTTCGCCCCCAACTGCCCCCTCTACGTCCAGATCCTCAAACCTGAAAACAAGTTTCACGTCAAGTTTGCTGGTGCGTCTGGGGCACACGTGGGTGATGGTGTATCTGGGGCAGGGCACGTGTGCACACGTGGGTGATGGTGCATCTGGGGCAGGGCGCATGTGCACATGTGTGACGGTGCGTCTGGGGCAGGACGCGTGTGCACACGTGGGTGACGGTGCGTCTGGGGCAGGATGCGTGTGCACACGTGGGTGTCGGTGCGTCTGGGGCAGGGCGCATGTGCACACGTGGGTGACGGTGCGTCTGGGGCAGGGCGCGTGTGCACACGTGGGTGACAGTGCATCTGGGGCAGGGCACGTGTGCACGTGTGTGTCGGTGTGTCTGGGGCAGGGCGCGTGTGCATGCTGTTGGGTGATGGTGCGTCTGGGGCAGGGCGCGTGTGCACACGTGGGTGACGGTGTGTCTGGGGCAGGGCGCATGTGCACGCAGTTAGGCGAGCTGTGTGGGGCAGCGGGAGGGGCTGGCCCTGGAGCTCCTCACACAAGCACACCAGGAGGTGCTGGAGGGGACGGCAGACCCCCATCCTCACCGCATCCGAGAAGGGACCTAGGGGGTCCAAACTCTTCAGATGAAGTCTTATGCTGGGATCCTGGGGTCAGTGAAGGCAGGGTCAGAGGTCAGGTGGGGGCAGGAGCACCGTCTGATGAGCACCTCTATGGGCAGGGACCATGCCGGGTGCCCGGGGAACGGGGGGCAGGCCCCATGCCAGGTGCCCAGGGGACAGGGGTCAGGGCCCACATGGAGTGCCCAAGGCACAGGGGCCAGGGCCTGCCCCGCCCTGGAACTCCTCGCTGAGCTGGGAGAGAAGCACAGGAGCGATGGAAGGTCCACCGAGGCTCAGACCAAGTAGGGGGTTGAGGTCCACAGACTCTCGGGGCAGAGATGCTGAAGCCGGACAGCAGACACGGGGGTGCCAGGCAAGGGTGCATCTGCATAGCACCTTCAGGAAGTGAGCAGGTACTGTGGGGGAGGAGAGAGCCGGCAGAGCGGCAGGTGGACCGGCCTCCCCCACTGCCCGCAGACCACGTGGTGTGTGAGGAGGAGTGCAAGTACGCCATGCTGGCGCTGAACTGCATCTGCCCGGCGACCTCCACCCTCATCACCCTGCTGGTGCACACGTCCCGCGGCCAGTGAGTGCCCCGTGCCCCGGGGGACCGACCTCCATGGCGGGGCCGGCGCAGGGAGACAACGCAGGGCCTGCTTGGGGGCGGGGATGGGCTTCCCAGAGGAGGGGCACATGGCGGGCAAAAGTCCTGCATAGGGAGGGGATCCATGCCAGGGGAAGCAGAGGGGGGCACCTGCAGACCCAGCCGGGGAGAAGGGGCAGCCATGGCCGAGGGTGACGCTCCCCTGGCCCCGCCCTGGCCCACAGGGAGGGACAGGAGTCTCCGGAGCAGTGGCAGCGCATGTATGGGCGCTGCTCCGGCAACGAGGTGTACCACATCCGCATGGGTGACAGCAAGTTCTTCCGCGAGTACGAGGGCAAGAGCTTCACCTACGCGGCCTTCCACGCCCACAAGAAGTAAGGCCGGGCTGCATCCACAGGGCTGGCGCTCCAGGGCTGCTCTGCTCTGTGCCCTCCCCACCCTCCCGGTCAGGCACAGGGGTGGCCCTGGGGCGGGGCTGCAGAGGGCTCGGGGGAGGGCATCAGGTCATCCTGCCTGGCGAGGGCAGCCGCAGGACTGGGCTCCGGGTCCACATAAAAACCTGCCACGCGGCTCCTCCCTGAGGCTTGTGGGCTGACCCCAGCTCTCTGGTCCCCAACACCTCTGGGACGGGAGGGCTCAGCCAAGGTCCCTGACCCCAAATGGCCCCCAGGAGGAAGACGCGGAGCTCCGGTGGGGACTCTGGTGATTTGCAGGAAGGGCAGGCAGGGAGCGGGACAGGGCGGGTGAGCGGCGGTACCTGAAGTTGCCGGTGCCTCTGCCCAGGTATGGCGTGTGCCTCATCGGGCTGAAGCGGGAGGACA
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Task1_train_13486
|
This variant affects gene KCNT1 (potassium sodium-activated channel subfamily T member 1) located on Chromosome 9. Evaluate its biological effect and specify any disease association.
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Pathogenic; Autosomal dominant nocturnal frontal lobe epilepsy 5
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CCCTTTTCAGGGTGAGGGGCAGCCTTTTGCGAGCTCCACCTTCCCCTGCTCCAAGTCTAGGGAAATCTTTGTCAAGTTCTAGGGAGGCTCAAAATAGAACAGGGGCGGGAGAGTCAGCTGCTGTGAGTCAAGGTGGGAGAACGGGCTGAAGGTAGAGTTCCTTTTAAAGACAAATTGACAGAGTGACAAGGTAACAAGAGTATATTATTACCTGGAACTTTCCAGAATGTGTCGGTGCACTTTCTGGGACACTCCCTGGAAAACCCTCCTGGTGACATTTTCATTCCAGGAGCCTGAATGTGTCCTTAGTGGCATAGTGTTGGTGGTACTCCCAGGGTCTCTCCTCATCACTCCCCCTCCCCCTGCCATGTCCAGAGCCCCAAGCTGGAACCCATTGCCTATGGAACGCCACCTCTTTTGTGGTCCCGTCCCCAGCACACACAGGCGATGCACCTGCTTGGGCCCAGGGAGTGGGGAGAGGGCAAGGGCGTAGGCCATTCCCAGCCAGGCAGGGATGAGCCCAGGGCTGTGGGTACAGGGCCTGGGGCCCCTGCGGAGCAGACAGTGGTGCCAGTGATGTGGTGGGGTTCCCTGCCCTGGGGCAGAGGCGACAGTTTCTTAGACAGCGTCTCAGCAGTGCTAGGTGGTTTCTGCAGCTGGGCTTTCAGGAGACCCAGGAGGCGCTGGAAGTGACCACCCAGGTTCCCAGACCACAGAGTAGCCAGGCCAGGGAGCGGACAGGGTCTCTGCCCCCAGATTCCCCCCTCCCTCCTGCACCCCAACCCAGCCCTGGGTGAATGTCTCATGGCAACATACAAGATGGGTACCCCGGAAGCCAGTGCCCAGGTCACTGGCACACACCTAGGTGGGGTCTCCACCGGGCCTGCTCCTGCCAACCCTGGACCCCTAGCCCCTGACGCCTGGGAGTATGGACAAATCCAGGCAGCCCCAGCCAGCAGAGCCCCCTCGCACGACCTCCTGATGCCCCTCCTACCTGGCCAACTTAGGGACAAGCTGGGGGGTTGCTTCAGAGAACAGGGCCTGGGGGAGGAAGGGCAGGCACTGCCCTAGGAAGCACCATGGGCTCCCACTCAGGGCCGTGGCCAGGAGAAGCTGTCAGCTGGTGTCTCCAGGACACACCATCCATAGCATCTGACCCCCTGCCCCCACCCGCTGTCAGCCTGCACACACTCGGGGGACAGGTGTGGCTCCTGACCCCTGCCCCCACCCGCTGTCAGCCTGCACACGCTCAGGGGACAGGTGTGGCTCCTGAACCCTGCCCCCACCCTCTGTCAGCCTGCACACGCTCGGGGGACAGGTGTGGCTCCTGTGCCTTCTCGAGTGTCGGAGCTTGGAGTCTCCTAGGGTGTCCAGGAGTCCTGACCCGGCTCAGAGCCTGCCAGGGATGGGCCAGGGAGTCTGGAGAGGCCCAGGATGCCTGCGGGGGGGGGGGGGGGGGCACTGGGATACCGGTGGGGGGGGCACAGGGATGCCTGCTGGTGGAGGGCACACAAGGATGCCCGTGGGGGACACTGTGATGTGGGTTGGGGGGGGGGGGGGCAGTATGGGGATGCCCACTGAGGGGGCACTGTGACTCCTGACCAGCAGAGAGTAGGGGCCTCCTCCCGCCTTCCATCCTCCCCGCCTTCCATCCTCTCCGCCTTCCATCCAGCCGTCCTCTCAGTCTCTTTCTGTGCACCTGCTGCACCAGCCTCCTCCCAGAGGAGGTCCTCCCCACCTCACCTCCGCACCCCCGGCTGCACTGCCCACCTCCCCTGCTCCACCCACGCTCAGGCCCTGGTGCATTGCAGGATGGACAATGGGGAGGCCTGCTTCATCCTCAGCAGCAGGAACGAGGTGGACCGCACGGCTGCAGTGAGTGAGGCTGAGGCCCTGCCCAGGCGGGAGGGGCACCGTGGGGCCGGGGAGCGGGGGTCCCTGAGGGAAGAGACCTGCCCCAGGCTGCCGGTGCCGCCCAGCAGCCCACAGAGGCCAGCCCGTCTGCACTGACCAACCACCCACCCCGCCAGGACCACCAGACCATCCTGCGCGCCTGGGCCGTGAAGGACTTCGCCCCCAACTGCCCCCTCTACGTCCAGATCCTCAAACCTGAAAACAAGTTTCACGTCAAGTTTGCTGGTGCGTCTGGGGCACACGTGGGTGATGGTGTATCTGGGGCAGGGCACGTGTGCACACGTGGGTGATGGTGCATCTGGGGCAGGGCGCATGTGCACATGTGTGACGGTGCGTCTGGGGCAGGACGCGTGTGCACACGTGGGTGACGGTGCGTCTGGGGCAGGATGCGTGTGCACACGTGGGTGTCGGTGCGTCTGGGGCAGGGCGCATGTGCACACGTGGGTGACGGTGCGTCTGGGGCAGGGCGCGTGTGCACACGTGGGTGACAGTGCATCTGGGGCAGGGCACGTGTGCACGTGTGTGTCGGTGTGTCTGGGGCAGGGCGCGTGTGCATGCTGTTGGGTGATGGTGCGTCTGGGGCAGGGCGCGTGTGCACACGTGGGTGACGGTGTGTCTGGGGCAGGGCGCATGTGCACGCAGTTAGGCGAGCTGTGTGGGGCAGCGGGAGGGGCTGGCCCTGGAGCTCCTCACACAAGCACACCAGGAGGTGCTGGAGGGGACGGCAGACCCCCATCCTCACCGCATCCGAGAAGGGACCTAGGGGGTCCAAACTCTTCAGATGAAGTCTTATGCTGGGATCCTGGGGTCAGTGAAGGCAGGGTCAGAGGTCAGGTGGGGGCAGGAGCACCGTCTGATGAGCACCTCTATGGGCAGGGACCATGCCGGGTGCCCGGGGAACGGGGGGCAGGCCCCATGCCAGGTGCCCAGGGGACAGGGGTCAGGGCCCACATGGAGTGCCCAAGGCACAGGGGCCAGGGCCTGCCCCGCCCTGGAACTCCTCGCTGAGCTGGGAGAGAAGCACAGGAGCGATGGAAGGTCCACCGAGGCTCAGACCAAGTAGGGGGTTGAGGTCCACAGACTCTCGGGGCAGAGATGCTGAAGCCGGACAGCAGACACGGGGGTGCCAGGCAAGGGTGCATCTGCATAGCACCTTCAGGAAGTGAGCAGGTACTGTGGGGGAGGAGAGAGCCGGCAGAGCGGCAGGTGGACCGGCCTCCCCCACTGCCCGCAGACCACGTGGTGTGTGAGGAGGAGTGCAAGTACGCCATGCTGGCGCTGAACTGCATCTGCCCGGCGACCTCCACCCTCATCACCCTGCTGGTGCACACGTCCCGCGGCCAGTGAGTGCCCCGTGCCCCGGGGGACCGACCTCCATGGCGGGGCCGGCGCAGGGAGACAACGCAGGGCCTGCTTGGGGGCGGGGATGGGCTTCCCAGAGGAGGGGCACATGGCGGGCAAAAGTCCTGCATAGGGAGGGGATCCATGCCAGGGGAAGCAGAGGGGGGCACCTGCAGACCCAGCCGGGGAGAAGGGGCAGCCATGGCCGAGGGTGACGCTCCCCTGGCCCCGCCCTGGCCCACAGGGAGGGACAGGAGTCTCCGGAGCAGTGGCAGCGCATGTATGGGCGCTGCTCCGGCAACGAGGTGTACCACATCCGCATGGGTGACAGCAAGTTCTTCCGCGAGTACGAGGGCAAGAGCTTCACCTACGCGGCCTTCCACGCCCACAAGAAGTAAGGCCGGGCTGCATCCACAGGGCTGGCGCTCCAGGGCTGCTCTGCTCTGTGCCCTCCCCACCCTCCCGGTCAGGCACAGGGGTGGCCCTGGGGCGGGGCTGCAGAGGGCTCGGGGGAGGGCATCAGGTCATCCTGCCTGGCGAGGGCAGCCGCAGGACTGGGCTCCGGGTCCACATAAAAACCTGCCACGCGGCTCCTCCCTGAGGCTTGTGGGCTGACCCCAGCTCTCTGGTCCCCAACACCTCTGGGACGGGAGGGCTCAGCCAAGGTCCCTGACCCCAAATGGCCCCCAGGAGGAAGACGCGGAGCTCCGGTGGGGACTCTGGTGATTTGCAGGAAGGGCAGGCAGGGAGCGGGACAGGGCGGGTGAGCGGCGGTACCTGAAGTTGCCGGTGCCTCTGCCCAGGTATGGCGTGTGCCTCATCGGGCTGAAGCGGGAGGACA
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CCCTTTTCAGGGTGAGGGGCAGCCTTTTGCGAGCTCCACCTTCCCCTGCTCCAAGTCTAGGGAAATCTTTGTCAAGTTCTAGGGAGGCTCAAAATAGAACAGGGGCGGGAGAGTCAGCTGCTGTGAGTCAAGGTGGGAGAACGGGCTGAAGGTAGAGTTCCTTTTAAAGACAAATTGACAGAGTGACAAGGTAACAAGAGTATATTATTACCTGGAACTTTCCAGAATGTGTCGGTGCACTTTCTGGGACACTCCCTGGAAAACCCTCCTGGTGACATTTTCATTCCAGGAGCCTGAATGTGTCCTTAGTGGCATAGTGTTGGTGGTACTCCCAGGGTCTCTCCTCATCACTCCCCCTCCCCCTGCCATGTCCAGAGCCCCAAGCTGGAACCCATTGCCTATGGAACGCCACCTCTTTTGTGGTCCCGTCCCCAGCACACACAGGCGATGCACCTGCTTGGGCCCAGGGAGTGGGGAGAGGGCAAGGGCGTAGGCCATTCCCAGCCAGGCAGGGATGAGCCCAGGGCTGTGGGTACAGGGCCTGGGGCCCCTGCGGAGCAGACAGTGGTGCCAGTGATGTGGTGGGGTTCCCTGCCCTGGGGCAGAGGCGACAGTTTCTTAGACAGCGTCTCAGCAGTGCTAGGTGGTTTCTGCAGCTGGGCTTTCAGGAGACCCAGGAGGCGCTGGAAGTGACCACCCAGGTTCCCAGACCACAGAGTAGCCAGGCCAGGGAGCGGACAGGGTCTCTGCCCCCAGATTCCCCCCTCCCTCCTGCACCCCAACCCAGCCCTGGGTGAATGTCTCATGGCAACATACAAGATGGGTACCCCGGAAGCCAGTGCCCAGGTCACTGGCACACACCTAGGTGGGGTCTCCACCGGGCCTGCTCCTGCCAACCCTGGACCCCTAGCCCCTGACGCCTGGGAGTATGGACAAATCCAGGCAGCCCCAGCCAGCAGAGCCCCCTCGCACGACCTCCTGATGCCCCTCCTACCTGGCCAACTTAGGGACAAGCTGGGGGGTTGCTTCAGAGAACAGGGCCTGGGGGAGGAAGGGCAGGCACTGCCCTAGGAAGCACCATGGGCTCCCACTCAGGGCCGTGGCCAGGAGAAGCTGTCAGCTGGTGTCTCCAGGACACACCATCCATAGCATCTGACCCCCTGCCCCCACCCGCTGTCAGCCTGCACACACTCGGGGGACAGGTGTGGCTCCTGACCCCTGCCCCCACCCGCTGTCAGCCTGCACACGCTCAGGGGACAGGTGTGGCTCCTGAACCCTGCCCCCACCCTCTGTCAGCCTGCACACGCTCGGGGGACAGGTGTGGCTCCTGTGCCTTCTCGAGTGTCGGAGCTTGGAGTCTCCTAGGGTGTCCAGGAGTCCTGACCCGGCTCAGAGCCTGCCAGGGATGGGCCAGGGAGTCTGGAGAGGCCCAGGATGCCTGCGGGGGGGGGGGGGGGGGCACTGGGATACCGGTGGGGGGGGCACAGGGATGCCTGCTGGTGGAGGGCACACAAGGATGCCCGTGGGGGACACTGTGATGTGGGTTGGGGGGGGGGGGGGCAGTATGGGGATGCCCACTGAGGGGGCACTGTGACTCCTGACCAGCAGAGAGTAGGGGCCTCCTCCCGCCTTCCATCCTCCCCGCCTTCCATCCTCTCCGCCTTCCATCCAGCCGTCCTCTCAGTCTCTTTCTGTGCACCTGCTGCACCAGCCTCCTCCCAGAGGAGGTCCTCCCCACCTCACCTCCGCACCCCCGGCTGCACTGCCCACCTCCCCTGCTCCACCCACGCTCAGGCCCTGGTGCATTGCAGGATGGACAATGGGGAGGCCTGCTTCATCCTCAGCAGCAGGAACGAGGTGGACCGCACGGCTGCAGTGAGTGAGGCTGAGGCCCTGCCCAGGCGGGAGGGGCACCGTGGGGCCGGGGAGCGGGGGTCCCTGAGGGAAGAGACCTGCCCCAGGCTGCCGGTGCCGCCCAGCAGCCCACAGAGGCCAGCCCGTCTGCACTGACCAACCACCCACCCCGCCAGGACCACCAGACCATCCTGTGCGCCTGGGCCGTGAAGGACTTCGCCCCCAACTGCCCCCTCTACGTCCAGATCCTCAAACCTGAAAACAAGTTTCACGTCAAGTTTGCTGGTGCGTCTGGGGCACACGTGGGTGATGGTGTATCTGGGGCAGGGCACGTGTGCACACGTGGGTGATGGTGCATCTGGGGCAGGGCGCATGTGCACATGTGTGACGGTGCGTCTGGGGCAGGACGCGTGTGCACACGTGGGTGACGGTGCGTCTGGGGCAGGATGCGTGTGCACACGTGGGTGTCGGTGCGTCTGGGGCAGGGCGCATGTGCACACGTGGGTGACGGTGCGTCTGGGGCAGGGCGCGTGTGCACACGTGGGTGACAGTGCATCTGGGGCAGGGCACGTGTGCACGTGTGTGTCGGTGTGTCTGGGGCAGGGCGCGTGTGCATGCTGTTGGGTGATGGTGCGTCTGGGGCAGGGCGCGTGTGCACACGTGGGTGACGGTGTGTCTGGGGCAGGGCGCATGTGCACGCAGTTAGGCGAGCTGTGTGGGGCAGCGGGAGGGGCTGGCCCTGGAGCTCCTCACACAAGCACACCAGGAGGTGCTGGAGGGGACGGCAGACCCCCATCCTCACCGCATCCGAGAAGGGACCTAGGGGGTCCAAACTCTTCAGATGAAGTCTTATGCTGGGATCCTGGGGTCAGTGAAGGCAGGGTCAGAGGTCAGGTGGGGGCAGGAGCACCGTCTGATGAGCACCTCTATGGGCAGGGACCATGCCGGGTGCCCGGGGAACGGGGGGCAGGCCCCATGCCAGGTGCCCAGGGGACAGGGGTCAGGGCCCACATGGAGTGCCCAAGGCACAGGGGCCAGGGCCTGCCCCGCCCTGGAACTCCTCGCTGAGCTGGGAGAGAAGCACAGGAGCGATGGAAGGTCCACCGAGGCTCAGACCAAGTAGGGGGTTGAGGTCCACAGACTCTCGGGGCAGAGATGCTGAAGCCGGACAGCAGACACGGGGGTGCCAGGCAAGGGTGCATCTGCATAGCACCTTCAGGAAGTGAGCAGGTACTGTGGGGGAGGAGAGAGCCGGCAGAGCGGCAGGTGGACCGGCCTCCCCCACTGCCCGCAGACCACGTGGTGTGTGAGGAGGAGTGCAAGTACGCCATGCTGGCGCTGAACTGCATCTGCCCGGCGACCTCCACCCTCATCACCCTGCTGGTGCACACGTCCCGCGGCCAGTGAGTGCCCCGTGCCCCGGGGGACCGACCTCCATGGCGGGGCCGGCGCAGGGAGACAACGCAGGGCCTGCTTGGGGGCGGGGATGGGCTTCCCAGAGGAGGGGCACATGGCGGGCAAAAGTCCTGCATAGGGAGGGGATCCATGCCAGGGGAAGCAGAGGGGGGCACCTGCAGACCCAGCCGGGGAGAAGGGGCAGCCATGGCCGAGGGTGACGCTCCCCTGGCCCCGCCCTGGCCCACAGGGAGGGACAGGAGTCTCCGGAGCAGTGGCAGCGCATGTATGGGCGCTGCTCCGGCAACGAGGTGTACCACATCCGCATGGGTGACAGCAAGTTCTTCCGCGAGTACGAGGGCAAGAGCTTCACCTACGCGGCCTTCCACGCCCACAAGAAGTAAGGCCGGGCTGCATCCACAGGGCTGGCGCTCCAGGGCTGCTCTGCTCTGTGCCCTCCCCACCCTCCCGGTCAGGCACAGGGGTGGCCCTGGGGCGGGGCTGCAGAGGGCTCGGGGGAGGGCATCAGGTCATCCTGCCTGGCGAGGGCAGCCGCAGGACTGGGCTCCGGGTCCACATAAAAACCTGCCACGCGGCTCCTCCCTGAGGCTTGTGGGCTGACCCCAGCTCTCTGGTCCCCAACACCTCTGGGACGGGAGGGCTCAGCCAAGGTCCCTGACCCCAAATGGCCCCCAGGAGGAAGACGCGGAGCTCCGGTGGGGACTCTGGTGATTTGCAGGAAGGGCAGGCAGGGAGCGGGACAGGGCGGGTGAGCGGCGGTACCTGAAGTTGCCGGTGCCTCTGCCCAGGTATGGCGTGTGCCTCATCGGGCTGAAGCGGGAGGACA
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Task1_train_13487
|
A variant affecting Chromosome 9, within the gene KCNT1 (potassium sodium-activated channel subfamily T member 1), has been observed. Determine if it's benign or associated with disease.
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Pathogenic; not provided
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TCAGGGTGAGGGGCAGCCTTTTGCGAGCTCCACCTTCCCCTGCTCCAAGTCTAGGGAAATCTTTGTCAAGTTCTAGGGAGGCTCAAAATAGAACAGGGGCGGGAGAGTCAGCTGCTGTGAGTCAAGGTGGGAGAACGGGCTGAAGGTAGAGTTCCTTTTAAAGACAAATTGACAGAGTGACAAGGTAACAAGAGTATATTATTACCTGGAACTTTCCAGAATGTGTCGGTGCACTTTCTGGGACACTCCCTGGAAAACCCTCCTGGTGACATTTTCATTCCAGGAGCCTGAATGTGTCCTTAGTGGCATAGTGTTGGTGGTACTCCCAGGGTCTCTCCTCATCACTCCCCCTCCCCCTGCCATGTCCAGAGCCCCAAGCTGGAACCCATTGCCTATGGAACGCCACCTCTTTTGTGGTCCCGTCCCCAGCACACACAGGCGATGCACCTGCTTGGGCCCAGGGAGTGGGGAGAGGGCAAGGGCGTAGGCCATTCCCAGCCAGGCAGGGATGAGCCCAGGGCTGTGGGTACAGGGCCTGGGGCCCCTGCGGAGCAGACAGTGGTGCCAGTGATGTGGTGGGGTTCCCTGCCCTGGGGCAGAGGCGACAGTTTCTTAGACAGCGTCTCAGCAGTGCTAGGTGGTTTCTGCAGCTGGGCTTTCAGGAGACCCAGGAGGCGCTGGAAGTGACCACCCAGGTTCCCAGACCACAGAGTAGCCAGGCCAGGGAGCGGACAGGGTCTCTGCCCCCAGATTCCCCCCTCCCTCCTGCACCCCAACCCAGCCCTGGGTGAATGTCTCATGGCAACATACAAGATGGGTACCCCGGAAGCCAGTGCCCAGGTCACTGGCACACACCTAGGTGGGGTCTCCACCGGGCCTGCTCCTGCCAACCCTGGACCCCTAGCCCCTGACGCCTGGGAGTATGGACAAATCCAGGCAGCCCCAGCCAGCAGAGCCCCCTCGCACGACCTCCTGATGCCCCTCCTACCTGGCCAACTTAGGGACAAGCTGGGGGGTTGCTTCAGAGAACAGGGCCTGGGGGAGGAAGGGCAGGCACTGCCCTAGGAAGCACCATGGGCTCCCACTCAGGGCCGTGGCCAGGAGAAGCTGTCAGCTGGTGTCTCCAGGACACACCATCCATAGCATCTGACCCCCTGCCCCCACCCGCTGTCAGCCTGCACACACTCGGGGGACAGGTGTGGCTCCTGACCCCTGCCCCCACCCGCTGTCAGCCTGCACACGCTCAGGGGACAGGTGTGGCTCCTGAACCCTGCCCCCACCCTCTGTCAGCCTGCACACGCTCGGGGGACAGGTGTGGCTCCTGTGCCTTCTCGAGTGTCGGAGCTTGGAGTCTCCTAGGGTGTCCAGGAGTCCTGACCCGGCTCAGAGCCTGCCAGGGATGGGCCAGGGAGTCTGGAGAGGCCCAGGATGCCTGCGGGGGGGGGGGGGGGGGCACTGGGATACCGGTGGGGGGGGCACAGGGATGCCTGCTGGTGGAGGGCACACAAGGATGCCCGTGGGGGACACTGTGATGTGGGTTGGGGGGGGGGGGGGCAGTATGGGGATGCCCACTGAGGGGGCACTGTGACTCCTGACCAGCAGAGAGTAGGGGCCTCCTCCCGCCTTCCATCCTCCCCGCCTTCCATCCTCTCCGCCTTCCATCCAGCCGTCCTCTCAGTCTCTTTCTGTGCACCTGCTGCACCAGCCTCCTCCCAGAGGAGGTCCTCCCCACCTCACCTCCGCACCCCCGGCTGCACTGCCCACCTCCCCTGCTCCACCCACGCTCAGGCCCTGGTGCATTGCAGGATGGACAATGGGGAGGCCTGCTTCATCCTCAGCAGCAGGAACGAGGTGGACCGCACGGCTGCAGTGAGTGAGGCTGAGGCCCTGCCCAGGCGGGAGGGGCACCGTGGGGCCGGGGAGCGGGGGTCCCTGAGGGAAGAGACCTGCCCCAGGCTGCCGGTGCCGCCCAGCAGCCCACAGAGGCCAGCCCGTCTGCACTGACCAACCACCCACCCCGCCAGGACCACCAGACCATCCTGCGCGCCTGGGCCGTGAAGGACTTCGCCCCCAACTGCCCCCTCTACGTCCAGATCCTCAAACCTGAAAACAAGTTTCACGTCAAGTTTGCTGGTGCGTCTGGGGCACACGTGGGTGATGGTGTATCTGGGGCAGGGCACGTGTGCACACGTGGGTGATGGTGCATCTGGGGCAGGGCGCATGTGCACATGTGTGACGGTGCGTCTGGGGCAGGACGCGTGTGCACACGTGGGTGACGGTGCGTCTGGGGCAGGATGCGTGTGCACACGTGGGTGTCGGTGCGTCTGGGGCAGGGCGCATGTGCACACGTGGGTGACGGTGCGTCTGGGGCAGGGCGCGTGTGCACACGTGGGTGACAGTGCATCTGGGGCAGGGCACGTGTGCACGTGTGTGTCGGTGTGTCTGGGGCAGGGCGCGTGTGCATGCTGTTGGGTGATGGTGCGTCTGGGGCAGGGCGCGTGTGCACACGTGGGTGACGGTGTGTCTGGGGCAGGGCGCATGTGCACGCAGTTAGGCGAGCTGTGTGGGGCAGCGGGAGGGGCTGGCCCTGGAGCTCCTCACACAAGCACACCAGGAGGTGCTGGAGGGGACGGCAGACCCCCATCCTCACCGCATCCGAGAAGGGACCTAGGGGGTCCAAACTCTTCAGATGAAGTCTTATGCTGGGATCCTGGGGTCAGTGAAGGCAGGGTCAGAGGTCAGGTGGGGGCAGGAGCACCGTCTGATGAGCACCTCTATGGGCAGGGACCATGCCGGGTGCCCGGGGAACGGGGGGCAGGCCCCATGCCAGGTGCCCAGGGGACAGGGGTCAGGGCCCACATGGAGTGCCCAAGGCACAGGGGCCAGGGCCTGCCCCGCCCTGGAACTCCTCGCTGAGCTGGGAGAGAAGCACAGGAGCGATGGAAGGTCCACCGAGGCTCAGACCAAGTAGGGGGTTGAGGTCCACAGACTCTCGGGGCAGAGATGCTGAAGCCGGACAGCAGACACGGGGGTGCCAGGCAAGGGTGCATCTGCATAGCACCTTCAGGAAGTGAGCAGGTACTGTGGGGGAGGAGAGAGCCGGCAGAGCGGCAGGTGGACCGGCCTCCCCCACTGCCCGCAGACCACGTGGTGTGTGAGGAGGAGTGCAAGTACGCCATGCTGGCGCTGAACTGCATCTGCCCGGCGACCTCCACCCTCATCACCCTGCTGGTGCACACGTCCCGCGGCCAGTGAGTGCCCCGTGCCCCGGGGGACCGACCTCCATGGCGGGGCCGGCGCAGGGAGACAACGCAGGGCCTGCTTGGGGGCGGGGATGGGCTTCCCAGAGGAGGGGCACATGGCGGGCAAAAGTCCTGCATAGGGAGGGGATCCATGCCAGGGGAAGCAGAGGGGGGCACCTGCAGACCCAGCCGGGGAGAAGGGGCAGCCATGGCCGAGGGTGACGCTCCCCTGGCCCCGCCCTGGCCCACAGGGAGGGACAGGAGTCTCCGGAGCAGTGGCAGCGCATGTATGGGCGCTGCTCCGGCAACGAGGTGTACCACATCCGCATGGGTGACAGCAAGTTCTTCCGCGAGTACGAGGGCAAGAGCTTCACCTACGCGGCCTTCCACGCCCACAAGAAGTAAGGCCGGGCTGCATCCACAGGGCTGGCGCTCCAGGGCTGCTCTGCTCTGTGCCCTCCCCACCCTCCCGGTCAGGCACAGGGGTGGCCCTGGGGCGGGGCTGCAGAGGGCTCGGGGGAGGGCATCAGGTCATCCTGCCTGGCGAGGGCAGCCGCAGGACTGGGCTCCGGGTCCACATAAAAACCTGCCACGCGGCTCCTCCCTGAGGCTTGTGGGCTGACCCCAGCTCTCTGGTCCCCAACACCTCTGGGACGGGAGGGCTCAGCCAAGGTCCCTGACCCCAAATGGCCCCCAGGAGGAAGACGCGGAGCTCCGGTGGGGACTCTGGTGATTTGCAGGAAGGGCAGGCAGGGAGCGGGACAGGGCGGGTGAGCGGCGGTACCTGAAGTTGCCGGTGCCTCTGCCCAGGTATGGCGTGTGCCTCATCGGGCTGAAGCGGGAGGACAACAAGA
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TCAGGGTGAGGGGCAGCCTTTTGCGAGCTCCACCTTCCCCTGCTCCAAGTCTAGGGAAATCTTTGTCAAGTTCTAGGGAGGCTCAAAATAGAACAGGGGCGGGAGAGTCAGCTGCTGTGAGTCAAGGTGGGAGAACGGGCTGAAGGTAGAGTTCCTTTTAAAGACAAATTGACAGAGTGACAAGGTAACAAGAGTATATTATTACCTGGAACTTTCCAGAATGTGTCGGTGCACTTTCTGGGACACTCCCTGGAAAACCCTCCTGGTGACATTTTCATTCCAGGAGCCTGAATGTGTCCTTAGTGGCATAGTGTTGGTGGTACTCCCAGGGTCTCTCCTCATCACTCCCCCTCCCCCTGCCATGTCCAGAGCCCCAAGCTGGAACCCATTGCCTATGGAACGCCACCTCTTTTGTGGTCCCGTCCCCAGCACACACAGGCGATGCACCTGCTTGGGCCCAGGGAGTGGGGAGAGGGCAAGGGCGTAGGCCATTCCCAGCCAGGCAGGGATGAGCCCAGGGCTGTGGGTACAGGGCCTGGGGCCCCTGCGGAGCAGACAGTGGTGCCAGTGATGTGGTGGGGTTCCCTGCCCTGGGGCAGAGGCGACAGTTTCTTAGACAGCGTCTCAGCAGTGCTAGGTGGTTTCTGCAGCTGGGCTTTCAGGAGACCCAGGAGGCGCTGGAAGTGACCACCCAGGTTCCCAGACCACAGAGTAGCCAGGCCAGGGAGCGGACAGGGTCTCTGCCCCCAGATTCCCCCCTCCCTCCTGCACCCCAACCCAGCCCTGGGTGAATGTCTCATGGCAACATACAAGATGGGTACCCCGGAAGCCAGTGCCCAGGTCACTGGCACACACCTAGGTGGGGTCTCCACCGGGCCTGCTCCTGCCAACCCTGGACCCCTAGCCCCTGACGCCTGGGAGTATGGACAAATCCAGGCAGCCCCAGCCAGCAGAGCCCCCTCGCACGACCTCCTGATGCCCCTCCTACCTGGCCAACTTAGGGACAAGCTGGGGGGTTGCTTCAGAGAACAGGGCCTGGGGGAGGAAGGGCAGGCACTGCCCTAGGAAGCACCATGGGCTCCCACTCAGGGCCGTGGCCAGGAGAAGCTGTCAGCTGGTGTCTCCAGGACACACCATCCATAGCATCTGACCCCCTGCCCCCACCCGCTGTCAGCCTGCACACACTCGGGGGACAGGTGTGGCTCCTGACCCCTGCCCCCACCCGCTGTCAGCCTGCACACGCTCAGGGGACAGGTGTGGCTCCTGAACCCTGCCCCCACCCTCTGTCAGCCTGCACACGCTCGGGGGACAGGTGTGGCTCCTGTGCCTTCTCGAGTGTCGGAGCTTGGAGTCTCCTAGGGTGTCCAGGAGTCCTGACCCGGCTCAGAGCCTGCCAGGGATGGGCCAGGGAGTCTGGAGAGGCCCAGGATGCCTGCGGGGGGGGGGGGGGGGGCACTGGGATACCGGTGGGGGGGGCACAGGGATGCCTGCTGGTGGAGGGCACACAAGGATGCCCGTGGGGGACACTGTGATGTGGGTTGGGGGGGGGGGGGGCAGTATGGGGATGCCCACTGAGGGGGCACTGTGACTCCTGACCAGCAGAGAGTAGGGGCCTCCTCCCGCCTTCCATCCTCCCCGCCTTCCATCCTCTCCGCCTTCCATCCAGCCGTCCTCTCAGTCTCTTTCTGTGCACCTGCTGCACCAGCCTCCTCCCAGAGGAGGTCCTCCCCACCTCACCTCCGCACCCCCGGCTGCACTGCCCACCTCCCCTGCTCCACCCACGCTCAGGCCCTGGTGCATTGCAGGATGGACAATGGGGAGGCCTGCTTCATCCTCAGCAGCAGGAACGAGGTGGACCGCACGGCTGCAGTGAGTGAGGCTGAGGCCCTGCCCAGGCGGGAGGGGCACCGTGGGGCCGGGGAGCGGGGGTCCCTGAGGGAAGAGACCTGCCCCAGGCTGCCGGTGCCGCCCAGCAGCCCACAGAGGCCAGCCCGTCTGCACTGACCAACCACCCACCCCGCCAGGACCACCAGACCATCCTGCGCGCCCGGGCCGTGAAGGACTTCGCCCCCAACTGCCCCCTCTACGTCCAGATCCTCAAACCTGAAAACAAGTTTCACGTCAAGTTTGCTGGTGCGTCTGGGGCACACGTGGGTGATGGTGTATCTGGGGCAGGGCACGTGTGCACACGTGGGTGATGGTGCATCTGGGGCAGGGCGCATGTGCACATGTGTGACGGTGCGTCTGGGGCAGGACGCGTGTGCACACGTGGGTGACGGTGCGTCTGGGGCAGGATGCGTGTGCACACGTGGGTGTCGGTGCGTCTGGGGCAGGGCGCATGTGCACACGTGGGTGACGGTGCGTCTGGGGCAGGGCGCGTGTGCACACGTGGGTGACAGTGCATCTGGGGCAGGGCACGTGTGCACGTGTGTGTCGGTGTGTCTGGGGCAGGGCGCGTGTGCATGCTGTTGGGTGATGGTGCGTCTGGGGCAGGGCGCGTGTGCACACGTGGGTGACGGTGTGTCTGGGGCAGGGCGCATGTGCACGCAGTTAGGCGAGCTGTGTGGGGCAGCGGGAGGGGCTGGCCCTGGAGCTCCTCACACAAGCACACCAGGAGGTGCTGGAGGGGACGGCAGACCCCCATCCTCACCGCATCCGAGAAGGGACCTAGGGGGTCCAAACTCTTCAGATGAAGTCTTATGCTGGGATCCTGGGGTCAGTGAAGGCAGGGTCAGAGGTCAGGTGGGGGCAGGAGCACCGTCTGATGAGCACCTCTATGGGCAGGGACCATGCCGGGTGCCCGGGGAACGGGGGGCAGGCCCCATGCCAGGTGCCCAGGGGACAGGGGTCAGGGCCCACATGGAGTGCCCAAGGCACAGGGGCCAGGGCCTGCCCCGCCCTGGAACTCCTCGCTGAGCTGGGAGAGAAGCACAGGAGCGATGGAAGGTCCACCGAGGCTCAGACCAAGTAGGGGGTTGAGGTCCACAGACTCTCGGGGCAGAGATGCTGAAGCCGGACAGCAGACACGGGGGTGCCAGGCAAGGGTGCATCTGCATAGCACCTTCAGGAAGTGAGCAGGTACTGTGGGGGAGGAGAGAGCCGGCAGAGCGGCAGGTGGACCGGCCTCCCCCACTGCCCGCAGACCACGTGGTGTGTGAGGAGGAGTGCAAGTACGCCATGCTGGCGCTGAACTGCATCTGCCCGGCGACCTCCACCCTCATCACCCTGCTGGTGCACACGTCCCGCGGCCAGTGAGTGCCCCGTGCCCCGGGGGACCGACCTCCATGGCGGGGCCGGCGCAGGGAGACAACGCAGGGCCTGCTTGGGGGCGGGGATGGGCTTCCCAGAGGAGGGGCACATGGCGGGCAAAAGTCCTGCATAGGGAGGGGATCCATGCCAGGGGAAGCAGAGGGGGGCACCTGCAGACCCAGCCGGGGAGAAGGGGCAGCCATGGCCGAGGGTGACGCTCCCCTGGCCCCGCCCTGGCCCACAGGGAGGGACAGGAGTCTCCGGAGCAGTGGCAGCGCATGTATGGGCGCTGCTCCGGCAACGAGGTGTACCACATCCGCATGGGTGACAGCAAGTTCTTCCGCGAGTACGAGGGCAAGAGCTTCACCTACGCGGCCTTCCACGCCCACAAGAAGTAAGGCCGGGCTGCATCCACAGGGCTGGCGCTCCAGGGCTGCTCTGCTCTGTGCCCTCCCCACCCTCCCGGTCAGGCACAGGGGTGGCCCTGGGGCGGGGCTGCAGAGGGCTCGGGGGAGGGCATCAGGTCATCCTGCCTGGCGAGGGCAGCCGCAGGACTGGGCTCCGGGTCCACATAAAAACCTGCCACGCGGCTCCTCCCTGAGGCTTGTGGGCTGACCCCAGCTCTCTGGTCCCCAACACCTCTGGGACGGGAGGGCTCAGCCAAGGTCCCTGACCCCAAATGGCCCCCAGGAGGAAGACGCGGAGCTCCGGTGGGGACTCTGGTGATTTGCAGGAAGGGCAGGCAGGGAGCGGGACAGGGCGGGTGAGCGGCGGTACCTGAAGTTGCCGGTGCCTCTGCCCAGGTATGGCGTGTGCCTCATCGGGCTGAAGCGGGAGGACAACAAGA
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Task1_train_13488
|
A genetic alteration is present in KCNT1 (potassium sodium-activated channel subfamily T member 1) on Chromosome 9. Is this variant benign or disease-causing, and if the latter, which condition is involved?
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Pathogenic; Developmental and epileptic encephalopathy, 14
|
CCCAGCTCTCTGGTCCCCAACACCTCTGGGACGGGAGGGCTCAGCCAAGGTCCCTGACCCCAAATGGCCCCCAGGAGGAAGACGCGGAGCTCCGGTGGGGACTCTGGTGATTTGCAGGAAGGGCAGGCAGGGAGCGGGACAGGGCGGGTGAGCGGCGGTACCTGAAGTTGCCGGTGCCTCTGCCCAGGTATGGCGTGTGCCTCATCGGGCTGAAGCGGGAGGACAACAAGAGCATCCTGCTGAACCCGGGGCCCCGGCACATCCTGGCCGCCTCTGACACCTGCTTCTACATCAACATCACCAAGGAGGAGAACTCGGCCTTCATCTTCAAGCAGGAGGAGAAGCGGAAGAAGAGGGCCTTCTCGGGGCAGGGGCTGCACGAGGGTCCGGCCCGCCTGCCCGTGCACAGCATCATCGCCTCCATGGGTGAGCCGGGACAGGCGCGCGGGACTCCCTGGGCCTGCTCCTTTGGCGGGAGACCAGGCGGGACACCGGCAGGTGACCAGGTGGGATGGGAGACCAGGCAGGACAGGGGGAGGTGACCAGGTGGGACAGGAGACCAGGCAGGACAGGGGCAGGTGACCAGGTGGGACGGGAGACCAGGCAGGGCGGGAGACCAGGTGGGACAGGAGACCAGACCGGGCAGGGCAGGAGACCAGGCCAATGTGGCCCCCAGACCCAGTTCCTCTTGGCCTATGCCTCCAACCTTGGACAGGTGGAGTCTCTCTGGGCCTGTTTTTGAATCTGTCAAACAGGTGTCCCCGCCTTCCTGTGGCCACCTTTGTGGGCATTGCTCACTGTGTCCAAGTGCCTGTCCAAGTGGGGCCGCCCACAGGACCGGTTGGCAGCTCAACCGGAGGCTCCTGGTGGTCCCATCAGCCCGGAGGGTCTGCTTCACGTGTGTCCCTCAAACAGTCGGGAGTCCTGACGTCCACTGGGGCCAGGAGTTGGCGGAATGAGGTCGCAGTGGCCGAGGGCTTTGGCCTCTTCTCGTGCCTTCAGGGATCCTCCCGGGGAGCCGCTTACCAGACAGGGTCAGGCTGCCTCTGAGCAGGTGGAGGCCCATGGCCCCTAGGGCACCACCCATAGTGGTGTTGCCCCCTCCCCAGCCAGGCCTTCCTGGGGGACAGTTAGGGAGCAGGGCCAGGCCAGGAAGCCACTCAGGCCACAGACCCACAGCCGGGCCAGCATGTTGCCACCTCCGTACAGTGGCCCAGGCAGAGGCTGACCCTATGGGGCACCCCAGCACGCCCACCCTGGGGTGTTGTTACACGGTGGCTGCTGGGGCACCAGGTGGTTCAGTGCAGTGGGGCACAGTCTCCAAGACCCAGAGGGCCCTGGGGTTTGGAGACGTGCCGATGCGGAGCCCACCACCTGCCAGACCCCGCAGGTTCCCGGCCGCCGTCTACGGCAGCTCACTCGGGGGGCCGGGCCTGGCCGCAGGGCACTGGGGAGGCAGGCTGCTGCTGCCTAGCCACACCTCCACCTTCACCTGCGCAGTAGGCACTCTGCCCCCAGGTGGCTTCCAGGAAACCAGGGTGACTCGGGCAACCCTCACTGTACCCACAGAGGCCCTGGGCCATACCTAGAGGTCCACAACCCCCATCTGGCAGCCTGGGGTGGTGCAGGAGTGGCAGAGTCTGCTCCCACAGGCACTGAGTCACCCAGCTGCTCCCCACCTGGCCCCATCCACCAGGCAGCCTGACCAGCTGCACAGGCCCCTAAGGCTGAGACCCCCGAGCCCAGAATCAGCCAACCCCCTCCTCAGGCATCTGGTGCTGAGGCCACAGCAGCTGGCCTGGGTGGCACCGATGGGGCACTGGGGCCCCCTGGGTCTTCGCTCAACATCATCGCCACCCCAGAGGCCACTGTCCCTGTTGTATGGAGGGGGAAACTGAGGCATAGATTGAAGCTCCTCAGCTGGAGCACAGGAGCCAGGCCATGACAGGGTCTCCAGAGCTGACTGTGTTCACCTGAGCTCTGGGAACTCGCCGCCCATGGAGGGTGGGAGTCGGGCTGTGGCCAAGCACAGGGCTCTCTTCCAGGGACAGTGGCCATGGACCTGCAGGGCACAGAGCACCGGCCTACGCAGAGCGGCGGTGGGGGCGGGGGCAGCAAGCTGGCACTGCCCACGGAGAACGGCTCGGGCAGCCGGCGGCCCAGCATCGCGCCCGTCCTGGAACTGGCCGACAGCTCAGCCCTGCTGCCCTGCGACCTGCTGAGCGACCAGTCGGAGGATGAGGTGACGCCGTCGGACGACGAGGGGCTCTCCGTGGTAGAGTGAGTGCTGCCTTGGAGACGGCTCCCAGTGGGGGGAGGAGCCGCCCATGAGTGCGGGGGATGGGTGTCGGAGCATCCTTGGTGGTCCCCCATGCTCTGAATTGCAGCTTCTGGACAGCTCCGTGGAAGTCCTTGTTTGACAAATGAAATCTTCAGGGGGCCCAACACAGACATCAGGGCCACATCACCCTCGTCGCCGGGGAGCACTTTTGAGTGTCACTGAGATGGGGTGTGCTGGGCTACACCCTTTCCAGTTGGGGCTGGGGGTGCAGAGCTAATTGGAGCGAGGCAGCTCACTGGCACAGGGGCTGTCAGGCACCAGGCAGCGCCACCCTCAGAGAGGGGCCCGTTCCCACCCACCTCACCAGCCCCATAGTGGCCCGGCCACTCTCTGAATCAGGATGGAGCTGGGCAGTGACCCCAGGCCATCCTCCACCCAGTGCCCTAGGTCTCCCCCTTAGCACTACAGAGCACAGAGGGGCACAGCCCGCCTGACCAGGGGTGGGTGTCCTCTGAGCAGGGTCCCTGTGCAACCCCTGGGCAAGGCAGTGTCCCAGCCTGGAAACCACAGCCCGTCCTGAGTTGTTGTCCTGGCCTAGGTTTGGGGCCAAGTCCTCCTGCTTCAAATCATGAGACAGGAGGCCCCACTCTGTTCTCAGCAGCTTCTGCCTTTTGGCCTCAGCCAGGACAGACAAGTGCCCCAGCTGCAGGGCCCGAGGTCCATCCTCAGCGGGGCTGCCTCACTCTGTCCTGGCCTTTGCCTCTGGGGTGGGGTCAACACACTGTAATGACAGCCCAGCTGCTGGGAAACAGCCCTGAACCATTGCATGTGTGTGTTGGGTGCTGCTGGGGACGGGGTGGTGGCCTGCTGGGGACAACAGCCTGGCTGGACAAGTATGTGGGTAAGAGCCCAAGGCCAGAGTGCCTGCCCCACCAGCCGGGGGTGCTGGGGATGTCAGGGAGGCATGGCGGGCGGGCAGAGCCCTGTGGGTTTTGCATGTGGCTGAAAAGCCTGGTCTAGGCTGTGGTGGGAGGAGAAAGACCGAGTAGGGCATGGGGGTGGGTGTGCAAGGGGGGTGTGTCCGGTGTGTGTGTGTGGTGTATGTTATGTGTGTGGTGTGTGTCCATATGTGTAATGTGTGTTGTGTGTCAACGTGTGTTTGTCACGTGTGGTGTGTGTTGTGTGATATGTGATGTGTGTCTGGGTGTGTGTGGTATGTGTCCGTGTGTGTGATGTGTGTCTGAGTGGTATTGTGTGTGGTATGTGGTGTCTGTGTGTTGTGTGTGGTGTGTGTCCGTGTGTGGTGTGTGTGGTGTCTGTTGTGTGTGTGGTGTGTTGTGTGTGGTGTGTGTGTCTGTGTGCTGTGTGTTGTGTGTCTGGGTGTGTTGTGTGTCCGTGTGTGGTGCGTGTTGTGTCTGTGTGTGGTGTGTGTTGCGTATGTTGTGTGTCCGTGTGTGTGTGGTGTGTGTCTGTGTGTTGTGTGGTGTGTCTGTGGTGTGTCTGTGTGTTGTGTGTCCGTGTGTGGTACGTGTTGTGTCTGTGTGGTGTGTGTTGCATATGTTGTGTGTCTGTGTGTGCTGTGTGTCTGTGTAGTGTGTTGTGTGGTCTGTGTGGTGTGTCTGTGTGTTGTGTGTCCATGTGTGGTACGTGTTGTGTGTTGTGTATGTTGTGTGTCGATGTGTGTGTTGTGTGTCTGGGTGTGTGGTGTGTATGTTATGTGTCCGTGCACGTGGTGCACGTGTGCATACGCCTGCATGTGTTCATTTCTGTGCGCATGTGTTGTGTGTGTGTCCGGGTGTGTCCATTTCCGTGTGC
|
CCCAGCTCTCTGGTCCCCAACACCTCTGGGACGGGAGGGCTCAGCCAAGGTCCCTGACCCCAAATGGCCCCCAGGAGGAAGACGCGGAGCTCCGGTGGGGACTCTGGTGATTTGCAGGAAGGGCAGGCAGGGAGCGGGACAGGGCGGGTGAGCGGCGGTACCTGAAGTTGCCGGTGCCTCTGCCCAGGTATGGCGTGTGCCTCATCGGGCTGAAGCGGGAGGACAACAAGAGCATCCTGCTGAACCCGGGGCCCCGGCACATCCTGGCCGCCTCTGACACCTGCTTCTACATCAACATCACCAAGGAGGAGAACTCGGCCTTCATCTTCAAGCAGGAGGAGAAGCGGAAGAAGAGGGCCTTCTCGGGGCAGGGGCTGCACGAGGGTCCGGCCCGCCTGCCCGTGCACAGCATCATCGCCTCCATGGGTGAGCCGGGACAGGCGCGCGGGACTCCCTGGGCCTGCTCCTTTGGCGGGAGACCAGGCGGGACACCGGCAGGTGACCAGGTGGGATGGGAGACCAGGCAGGACAGGGGGAGGTGACCAGGTGGGACAGGAGACCAGGCAGGACAGGGGCAGGTGACCAGGTGGGACGGGAGACCAGGCAGGGCGGGAGACCAGGTGGGACAGGAGACCAGACCGGGCAGGGCAGGAGACCAGGCCAATGTGGCCCCCAGACCCAGTTCCTCTTGGCCTATGCCTCCAACCTTGGACAGGTGGAGTCTCTCTGGGCCTGTTTTTGAATCTGTCAAACAGGTGTCCCCGCCTTCCTGTGGCCACCTTTGTGGGCATTGCTCACTGTGTCCAAGTGCCTGTCCAAGTGGGGCCGCCCACAGGACCGGTTGGCAGCTCAACCGGAGGCTCCTGGTGGTCCCATCAGCCCGGAGGGTCTGCTTCACGTGTGTCCCTCAAACAGTCGGGAGTCCTGACGTCCACTGGGGCCAGGAGTTGGCGGAATGAGGTCGCAGTGGCCGAGGGCTTTGGCCTCTTCTCGTGCCTTCAGGGATCCTCCCGGGGAGCCGCTTACCAGACAGGGTCAGGCTGCCTCTGAGCAGGTGGAGGCCCATGGCCCCTAGGGCACCACCCATAGTGGTGTTGCCCCCTCCCCAGCCAGGCCTTCCTGGGGGACAGTTAGGGAGCAGGGCCAGGCCAGGAAGCCACTCAGGCCACAGACCCACAGCCGGGCCAGCATGTTGCCACCTCCGTACAGTGGCCCAGGCAGAGGCTGACCCTATGGGGCACCCCAGCACGCCCACCCTGGGGTGTTGTTACACGGTGGCTGCTGGGGCACCAGGTGGTTCAGTGCAGTGGGGCACAGTCTCCAAGACCCAGAGGGCCCTGGGGTTTGGAGACGTGCCGATGCGGAGCCCACCACCTGCCAGACCCCGCAGGTTCCCGGCCGCCGTCTACGGCAGCTCACTCGGGGGGCCGGGCCTGGCCGCAGGGCACTGGGGAGGCAGGCTGCTGCTGCCTAGCCACACCTCCACCTTCACCTGCGCAGTAGGCACTCTGCCCCCAGGTGGCTTCCAGGAAACCAGGGTGACTCGGGCAACCCTCACTGTACCCACAGAGGCCCTGGGCCATACCTAGAGGTCCACAACCCCCATCTGGCAGCCTGGGGTGGTGCAGGAGTGGCAGAGTCTGCTCCCACAGGCACTGAGTCACCCAGCTGCTCCCCACCTGGCCCCATCCACCAGGCAGCCTGACCAGCTGCACAGGCCCCTAAGGCTGAGACCCCCGAGCCCAGAATCAGCCAACCCCCTCCTCAGGCATCTGGTGCTGAGGCCACAGCAGCTGGCCTGGGTGGCACCGATGGGGCACTGGGGCCCCCTGGGTCTTCGCTCAACATCATCGCCACCCCAGAGGCCACTGTCCCTGTTGTATGGAGGGGGAAACTGAGGCATAGATTGAAGCTCCTCAGCTGGAGCACAGGAGCCAGGCCATGACAGGGTCTCCAGAGCTGACTGTGTTCACCTGAGCTCTGGGAACTCGCCGCCCATGGAGGGTGGGAGTCGGGCTGTGGCCAAGCACAGGGCTCTCTTCCAGGGATAGTGGCCATGGACCTGCAGGGCACAGAGCACCGGCCTACGCAGAGCGGCGGTGGGGGCGGGGGCAGCAAGCTGGCACTGCCCACGGAGAACGGCTCGGGCAGCCGGCGGCCCAGCATCGCGCCCGTCCTGGAACTGGCCGACAGCTCAGCCCTGCTGCCCTGCGACCTGCTGAGCGACCAGTCGGAGGATGAGGTGACGCCGTCGGACGACGAGGGGCTCTCCGTGGTAGAGTGAGTGCTGCCTTGGAGACGGCTCCCAGTGGGGGGAGGAGCCGCCCATGAGTGCGGGGGATGGGTGTCGGAGCATCCTTGGTGGTCCCCCATGCTCTGAATTGCAGCTTCTGGACAGCTCCGTGGAAGTCCTTGTTTGACAAATGAAATCTTCAGGGGGCCCAACACAGACATCAGGGCCACATCACCCTCGTCGCCGGGGAGCACTTTTGAGTGTCACTGAGATGGGGTGTGCTGGGCTACACCCTTTCCAGTTGGGGCTGGGGGTGCAGAGCTAATTGGAGCGAGGCAGCTCACTGGCACAGGGGCTGTCAGGCACCAGGCAGCGCCACCCTCAGAGAGGGGCCCGTTCCCACCCACCTCACCAGCCCCATAGTGGCCCGGCCACTCTCTGAATCAGGATGGAGCTGGGCAGTGACCCCAGGCCATCCTCCACCCAGTGCCCTAGGTCTCCCCCTTAGCACTACAGAGCACAGAGGGGCACAGCCCGCCTGACCAGGGGTGGGTGTCCTCTGAGCAGGGTCCCTGTGCAACCCCTGGGCAAGGCAGTGTCCCAGCCTGGAAACCACAGCCCGTCCTGAGTTGTTGTCCTGGCCTAGGTTTGGGGCCAAGTCCTCCTGCTTCAAATCATGAGACAGGAGGCCCCACTCTGTTCTCAGCAGCTTCTGCCTTTTGGCCTCAGCCAGGACAGACAAGTGCCCCAGCTGCAGGGCCCGAGGTCCATCCTCAGCGGGGCTGCCTCACTCTGTCCTGGCCTTTGCCTCTGGGGTGGGGTCAACACACTGTAATGACAGCCCAGCTGCTGGGAAACAGCCCTGAACCATTGCATGTGTGTGTTGGGTGCTGCTGGGGACGGGGTGGTGGCCTGCTGGGGACAACAGCCTGGCTGGACAAGTATGTGGGTAAGAGCCCAAGGCCAGAGTGCCTGCCCCACCAGCCGGGGGTGCTGGGGATGTCAGGGAGGCATGGCGGGCGGGCAGAGCCCTGTGGGTTTTGCATGTGGCTGAAAAGCCTGGTCTAGGCTGTGGTGGGAGGAGAAAGACCGAGTAGGGCATGGGGGTGGGTGTGCAAGGGGGGTGTGTCCGGTGTGTGTGTGTGGTGTATGTTATGTGTGTGGTGTGTGTCCATATGTGTAATGTGTGTTGTGTGTCAACGTGTGTTTGTCACGTGTGGTGTGTGTTGTGTGATATGTGATGTGTGTCTGGGTGTGTGTGGTATGTGTCCGTGTGTGTGATGTGTGTCTGAGTGGTATTGTGTGTGGTATGTGGTGTCTGTGTGTTGTGTGTGGTGTGTGTCCGTGTGTGGTGTGTGTGGTGTCTGTTGTGTGTGTGGTGTGTTGTGTGTGGTGTGTGTGTCTGTGTGCTGTGTGTTGTGTGTCTGGGTGTGTTGTGTGTCCGTGTGTGGTGCGTGTTGTGTCTGTGTGTGGTGTGTGTTGCGTATGTTGTGTGTCCGTGTGTGTGTGGTGTGTGTCTGTGTGTTGTGTGGTGTGTCTGTGGTGTGTCTGTGTGTTGTGTGTCCGTGTGTGGTACGTGTTGTGTCTGTGTGGTGTGTGTTGCATATGTTGTGTGTCTGTGTGTGCTGTGTGTCTGTGTAGTGTGTTGTGTGGTCTGTGTGGTGTGTCTGTGTGTTGTGTGTCCATGTGTGGTACGTGTTGTGTGTTGTGTATGTTGTGTGTCGATGTGTGTGTTGTGTGTCTGGGTGTGTGGTGTGTATGTTATGTGTCCGTGCACGTGGTGCACGTGTGCATACGCCTGCATGTGTTCATTTCTGTGCGCATGTGTTGTGTGTGTGTCCGGGTGTGTCCATTTCCGTGTGC
|
Task1_train_13489
|
This variant impacts the gene KCNT1 (potassium sodium-activated channel subfamily T member 1) on Chromosome 9. Is the change likely to result in a pathogenic outcome?
|
Pathogenic; Autosomal dominant nocturnal frontal lobe epilepsy 5
|
CCCAGCTCTCTGGTCCCCAACACCTCTGGGACGGGAGGGCTCAGCCAAGGTCCCTGACCCCAAATGGCCCCCAGGAGGAAGACGCGGAGCTCCGGTGGGGACTCTGGTGATTTGCAGGAAGGGCAGGCAGGGAGCGGGACAGGGCGGGTGAGCGGCGGTACCTGAAGTTGCCGGTGCCTCTGCCCAGGTATGGCGTGTGCCTCATCGGGCTGAAGCGGGAGGACAACAAGAGCATCCTGCTGAACCCGGGGCCCCGGCACATCCTGGCCGCCTCTGACACCTGCTTCTACATCAACATCACCAAGGAGGAGAACTCGGCCTTCATCTTCAAGCAGGAGGAGAAGCGGAAGAAGAGGGCCTTCTCGGGGCAGGGGCTGCACGAGGGTCCGGCCCGCCTGCCCGTGCACAGCATCATCGCCTCCATGGGTGAGCCGGGACAGGCGCGCGGGACTCCCTGGGCCTGCTCCTTTGGCGGGAGACCAGGCGGGACACCGGCAGGTGACCAGGTGGGATGGGAGACCAGGCAGGACAGGGGGAGGTGACCAGGTGGGACAGGAGACCAGGCAGGACAGGGGCAGGTGACCAGGTGGGACGGGAGACCAGGCAGGGCGGGAGACCAGGTGGGACAGGAGACCAGACCGGGCAGGGCAGGAGACCAGGCCAATGTGGCCCCCAGACCCAGTTCCTCTTGGCCTATGCCTCCAACCTTGGACAGGTGGAGTCTCTCTGGGCCTGTTTTTGAATCTGTCAAACAGGTGTCCCCGCCTTCCTGTGGCCACCTTTGTGGGCATTGCTCACTGTGTCCAAGTGCCTGTCCAAGTGGGGCCGCCCACAGGACCGGTTGGCAGCTCAACCGGAGGCTCCTGGTGGTCCCATCAGCCCGGAGGGTCTGCTTCACGTGTGTCCCTCAAACAGTCGGGAGTCCTGACGTCCACTGGGGCCAGGAGTTGGCGGAATGAGGTCGCAGTGGCCGAGGGCTTTGGCCTCTTCTCGTGCCTTCAGGGATCCTCCCGGGGAGCCGCTTACCAGACAGGGTCAGGCTGCCTCTGAGCAGGTGGAGGCCCATGGCCCCTAGGGCACCACCCATAGTGGTGTTGCCCCCTCCCCAGCCAGGCCTTCCTGGGGGACAGTTAGGGAGCAGGGCCAGGCCAGGAAGCCACTCAGGCCACAGACCCACAGCCGGGCCAGCATGTTGCCACCTCCGTACAGTGGCCCAGGCAGAGGCTGACCCTATGGGGCACCCCAGCACGCCCACCCTGGGGTGTTGTTACACGGTGGCTGCTGGGGCACCAGGTGGTTCAGTGCAGTGGGGCACAGTCTCCAAGACCCAGAGGGCCCTGGGGTTTGGAGACGTGCCGATGCGGAGCCCACCACCTGCCAGACCCCGCAGGTTCCCGGCCGCCGTCTACGGCAGCTCACTCGGGGGGCCGGGCCTGGCCGCAGGGCACTGGGGAGGCAGGCTGCTGCTGCCTAGCCACACCTCCACCTTCACCTGCGCAGTAGGCACTCTGCCCCCAGGTGGCTTCCAGGAAACCAGGGTGACTCGGGCAACCCTCACTGTACCCACAGAGGCCCTGGGCCATACCTAGAGGTCCACAACCCCCATCTGGCAGCCTGGGGTGGTGCAGGAGTGGCAGAGTCTGCTCCCACAGGCACTGAGTCACCCAGCTGCTCCCCACCTGGCCCCATCCACCAGGCAGCCTGACCAGCTGCACAGGCCCCTAAGGCTGAGACCCCCGAGCCCAGAATCAGCCAACCCCCTCCTCAGGCATCTGGTGCTGAGGCCACAGCAGCTGGCCTGGGTGGCACCGATGGGGCACTGGGGCCCCCTGGGTCTTCGCTCAACATCATCGCCACCCCAGAGGCCACTGTCCCTGTTGTATGGAGGGGGAAACTGAGGCATAGATTGAAGCTCCTCAGCTGGAGCACAGGAGCCAGGCCATGACAGGGTCTCCAGAGCTGACTGTGTTCACCTGAGCTCTGGGAACTCGCCGCCCATGGAGGGTGGGAGTCGGGCTGTGGCCAAGCACAGGGCTCTCTTCCAGGGACAGTGGCCATGGACCTGCAGGGCACAGAGCACCGGCCTACGCAGAGCGGCGGTGGGGGCGGGGGCAGCAAGCTGGCACTGCCCACGGAGAACGGCTCGGGCAGCCGGCGGCCCAGCATCGCGCCCGTCCTGGAACTGGCCGACAGCTCAGCCCTGCTGCCCTGCGACCTGCTGAGCGACCAGTCGGAGGATGAGGTGACGCCGTCGGACGACGAGGGGCTCTCCGTGGTAGAGTGAGTGCTGCCTTGGAGACGGCTCCCAGTGGGGGGAGGAGCCGCCCATGAGTGCGGGGGATGGGTGTCGGAGCATCCTTGGTGGTCCCCCATGCTCTGAATTGCAGCTTCTGGACAGCTCCGTGGAAGTCCTTGTTTGACAAATGAAATCTTCAGGGGGCCCAACACAGACATCAGGGCCACATCACCCTCGTCGCCGGGGAGCACTTTTGAGTGTCACTGAGATGGGGTGTGCTGGGCTACACCCTTTCCAGTTGGGGCTGGGGGTGCAGAGCTAATTGGAGCGAGGCAGCTCACTGGCACAGGGGCTGTCAGGCACCAGGCAGCGCCACCCTCAGAGAGGGGCCCGTTCCCACCCACCTCACCAGCCCCATAGTGGCCCGGCCACTCTCTGAATCAGGATGGAGCTGGGCAGTGACCCCAGGCCATCCTCCACCCAGTGCCCTAGGTCTCCCCCTTAGCACTACAGAGCACAGAGGGGCACAGCCCGCCTGACCAGGGGTGGGTGTCCTCTGAGCAGGGTCCCTGTGCAACCCCTGGGCAAGGCAGTGTCCCAGCCTGGAAACCACAGCCCGTCCTGAGTTGTTGTCCTGGCCTAGGTTTGGGGCCAAGTCCTCCTGCTTCAAATCATGAGACAGGAGGCCCCACTCTGTTCTCAGCAGCTTCTGCCTTTTGGCCTCAGCCAGGACAGACAAGTGCCCCAGCTGCAGGGCCCGAGGTCCATCCTCAGCGGGGCTGCCTCACTCTGTCCTGGCCTTTGCCTCTGGGGTGGGGTCAACACACTGTAATGACAGCCCAGCTGCTGGGAAACAGCCCTGAACCATTGCATGTGTGTGTTGGGTGCTGCTGGGGACGGGGTGGTGGCCTGCTGGGGACAACAGCCTGGCTGGACAAGTATGTGGGTAAGAGCCCAAGGCCAGAGTGCCTGCCCCACCAGCCGGGGGTGCTGGGGATGTCAGGGAGGCATGGCGGGCGGGCAGAGCCCTGTGGGTTTTGCATGTGGCTGAAAAGCCTGGTCTAGGCTGTGGTGGGAGGAGAAAGACCGAGTAGGGCATGGGGGTGGGTGTGCAAGGGGGGTGTGTCCGGTGTGTGTGTGTGGTGTATGTTATGTGTGTGGTGTGTGTCCATATGTGTAATGTGTGTTGTGTGTCAACGTGTGTTTGTCACGTGTGGTGTGTGTTGTGTGATATGTGATGTGTGTCTGGGTGTGTGTGGTATGTGTCCGTGTGTGTGATGTGTGTCTGAGTGGTATTGTGTGTGGTATGTGGTGTCTGTGTGTTGTGTGTGGTGTGTGTCCGTGTGTGGTGTGTGTGGTGTCTGTTGTGTGTGTGGTGTGTTGTGTGTGGTGTGTGTGTCTGTGTGCTGTGTGTTGTGTGTCTGGGTGTGTTGTGTGTCCGTGTGTGGTGCGTGTTGTGTCTGTGTGTGGTGTGTGTTGCGTATGTTGTGTGTCCGTGTGTGTGTGGTGTGTGTCTGTGTGTTGTGTGGTGTGTCTGTGGTGTGTCTGTGTGTTGTGTGTCCGTGTGTGGTACGTGTTGTGTCTGTGTGGTGTGTGTTGCATATGTTGTGTGTCTGTGTGTGCTGTGTGTCTGTGTAGTGTGTTGTGTGGTCTGTGTGGTGTGTCTGTGTGTTGTGTGTCCATGTGTGGTACGTGTTGTGTGTTGTGTATGTTGTGTGTCGATGTGTGTGTTGTGTGTCTGGGTGTGTGGTGTGTATGTTATGTGTCCGTGCACGTGGTGCACGTGTGCATACGCCTGCATGTGTTCATTTCTGTGCGCATGTGTTGTGTGTGTGTCCGGGTGTGTCCATTTCCGTGTGC
|
CCCAGCTCTCTGGTCCCCAACACCTCTGGGACGGGAGGGCTCAGCCAAGGTCCCTGACCCCAAATGGCCCCCAGGAGGAAGACGCGGAGCTCCGGTGGGGACTCTGGTGATTTGCAGGAAGGGCAGGCAGGGAGCGGGACAGGGCGGGTGAGCGGCGGTACCTGAAGTTGCCGGTGCCTCTGCCCAGGTATGGCGTGTGCCTCATCGGGCTGAAGCGGGAGGACAACAAGAGCATCCTGCTGAACCCGGGGCCCCGGCACATCCTGGCCGCCTCTGACACCTGCTTCTACATCAACATCACCAAGGAGGAGAACTCGGCCTTCATCTTCAAGCAGGAGGAGAAGCGGAAGAAGAGGGCCTTCTCGGGGCAGGGGCTGCACGAGGGTCCGGCCCGCCTGCCCGTGCACAGCATCATCGCCTCCATGGGTGAGCCGGGACAGGCGCGCGGGACTCCCTGGGCCTGCTCCTTTGGCGGGAGACCAGGCGGGACACCGGCAGGTGACCAGGTGGGATGGGAGACCAGGCAGGACAGGGGGAGGTGACCAGGTGGGACAGGAGACCAGGCAGGACAGGGGCAGGTGACCAGGTGGGACGGGAGACCAGGCAGGGCGGGAGACCAGGTGGGACAGGAGACCAGACCGGGCAGGGCAGGAGACCAGGCCAATGTGGCCCCCAGACCCAGTTCCTCTTGGCCTATGCCTCCAACCTTGGACAGGTGGAGTCTCTCTGGGCCTGTTTTTGAATCTGTCAAACAGGTGTCCCCGCCTTCCTGTGGCCACCTTTGTGGGCATTGCTCACTGTGTCCAAGTGCCTGTCCAAGTGGGGCCGCCCACAGGACCGGTTGGCAGCTCAACCGGAGGCTCCTGGTGGTCCCATCAGCCCGGAGGGTCTGCTTCACGTGTGTCCCTCAAACAGTCGGGAGTCCTGACGTCCACTGGGGCCAGGAGTTGGCGGAATGAGGTCGCAGTGGCCGAGGGCTTTGGCCTCTTCTCGTGCCTTCAGGGATCCTCCCGGGGAGCCGCTTACCAGACAGGGTCAGGCTGCCTCTGAGCAGGTGGAGGCCCATGGCCCCTAGGGCACCACCCATAGTGGTGTTGCCCCCTCCCCAGCCAGGCCTTCCTGGGGGACAGTTAGGGAGCAGGGCCAGGCCAGGAAGCCACTCAGGCCACAGACCCACAGCCGGGCCAGCATGTTGCCACCTCCGTACAGTGGCCCAGGCAGAGGCTGACCCTATGGGGCACCCCAGCACGCCCACCCTGGGGTGTTGTTACACGGTGGCTGCTGGGGCACCAGGTGGTTCAGTGCAGTGGGGCACAGTCTCCAAGACCCAGAGGGCCCTGGGGTTTGGAGACGTGCCGATGCGGAGCCCACCACCTGCCAGACCCCGCAGGTTCCCGGCCGCCGTCTACGGCAGCTCACTCGGGGGGCCGGGCCTGGCCGCAGGGCACTGGGGAGGCAGGCTGCTGCTGCCTAGCCACACCTCCACCTTCACCTGCGCAGTAGGCACTCTGCCCCCAGGTGGCTTCCAGGAAACCAGGGTGACTCGGGCAACCCTCACTGTACCCACAGAGGCCCTGGGCCATACCTAGAGGTCCACAACCCCCATCTGGCAGCCTGGGGTGGTGCAGGAGTGGCAGAGTCTGCTCCCACAGGCACTGAGTCACCCAGCTGCTCCCCACCTGGCCCCATCCACCAGGCAGCCTGACCAGCTGCACAGGCCCCTAAGGCTGAGACCCCCGAGCCCAGAATCAGCCAACCCCCTCCTCAGGCATCTGGTGCTGAGGCCACAGCAGCTGGCCTGGGTGGCACCGATGGGGCACTGGGGCCCCCTGGGTCTTCGCTCAACATCATCGCCACCCCAGAGGCCACTGTCCCTGTTGTATGGAGGGGGAAACTGAGGCATAGATTGAAGCTCCTCAGCTGGAGCACAGGAGCCAGGCCATGACAGGGTCTCCAGAGCTGACTGTGTTCACCTGAGCTCTGGGAACTCGCCGCCCATGGAGGGTGGGAGTCGGGCTGTGGCCAAGCACAGGGCTCTCTTCCAGGGATAGTGGCCATGGACCTGCAGGGCACAGAGCACCGGCCTACGCAGAGCGGCGGTGGGGGCGGGGGCAGCAAGCTGGCACTGCCCACGGAGAACGGCTCGGGCAGCCGGCGGCCCAGCATCGCGCCCGTCCTGGAACTGGCCGACAGCTCAGCCCTGCTGCCCTGCGACCTGCTGAGCGACCAGTCGGAGGATGAGGTGACGCCGTCGGACGACGAGGGGCTCTCCGTGGTAGAGTGAGTGCTGCCTTGGAGACGGCTCCCAGTGGGGGGAGGAGCCGCCCATGAGTGCGGGGGATGGGTGTCGGAGCATCCTTGGTGGTCCCCCATGCTCTGAATTGCAGCTTCTGGACAGCTCCGTGGAAGTCCTTGTTTGACAAATGAAATCTTCAGGGGGCCCAACACAGACATCAGGGCCACATCACCCTCGTCGCCGGGGAGCACTTTTGAGTGTCACTGAGATGGGGTGTGCTGGGCTACACCCTTTCCAGTTGGGGCTGGGGGTGCAGAGCTAATTGGAGCGAGGCAGCTCACTGGCACAGGGGCTGTCAGGCACCAGGCAGCGCCACCCTCAGAGAGGGGCCCGTTCCCACCCACCTCACCAGCCCCATAGTGGCCCGGCCACTCTCTGAATCAGGATGGAGCTGGGCAGTGACCCCAGGCCATCCTCCACCCAGTGCCCTAGGTCTCCCCCTTAGCACTACAGAGCACAGAGGGGCACAGCCCGCCTGACCAGGGGTGGGTGTCCTCTGAGCAGGGTCCCTGTGCAACCCCTGGGCAAGGCAGTGTCCCAGCCTGGAAACCACAGCCCGTCCTGAGTTGTTGTCCTGGCCTAGGTTTGGGGCCAAGTCCTCCTGCTTCAAATCATGAGACAGGAGGCCCCACTCTGTTCTCAGCAGCTTCTGCCTTTTGGCCTCAGCCAGGACAGACAAGTGCCCCAGCTGCAGGGCCCGAGGTCCATCCTCAGCGGGGCTGCCTCACTCTGTCCTGGCCTTTGCCTCTGGGGTGGGGTCAACACACTGTAATGACAGCCCAGCTGCTGGGAAACAGCCCTGAACCATTGCATGTGTGTGTTGGGTGCTGCTGGGGACGGGGTGGTGGCCTGCTGGGGACAACAGCCTGGCTGGACAAGTATGTGGGTAAGAGCCCAAGGCCAGAGTGCCTGCCCCACCAGCCGGGGGTGCTGGGGATGTCAGGGAGGCATGGCGGGCGGGCAGAGCCCTGTGGGTTTTGCATGTGGCTGAAAAGCCTGGTCTAGGCTGTGGTGGGAGGAGAAAGACCGAGTAGGGCATGGGGGTGGGTGTGCAAGGGGGGTGTGTCCGGTGTGTGTGTGTGGTGTATGTTATGTGTGTGGTGTGTGTCCATATGTGTAATGTGTGTTGTGTGTCAACGTGTGTTTGTCACGTGTGGTGTGTGTTGTGTGATATGTGATGTGTGTCTGGGTGTGTGTGGTATGTGTCCGTGTGTGTGATGTGTGTCTGAGTGGTATTGTGTGTGGTATGTGGTGTCTGTGTGTTGTGTGTGGTGTGTGTCCGTGTGTGGTGTGTGTGGTGTCTGTTGTGTGTGTGGTGTGTTGTGTGTGGTGTGTGTGTCTGTGTGCTGTGTGTTGTGTGTCTGGGTGTGTTGTGTGTCCGTGTGTGGTGCGTGTTGTGTCTGTGTGTGGTGTGTGTTGCGTATGTTGTGTGTCCGTGTGTGTGTGGTGTGTGTCTGTGTGTTGTGTGGTGTGTCTGTGGTGTGTCTGTGTGTTGTGTGTCCGTGTGTGGTACGTGTTGTGTCTGTGTGGTGTGTGTTGCATATGTTGTGTGTCTGTGTGTGCTGTGTGTCTGTGTAGTGTGTTGTGTGGTCTGTGTGGTGTGTCTGTGTGTTGTGTGTCCATGTGTGGTACGTGTTGTGTGTTGTGTATGTTGTGTGTCGATGTGTGTGTTGTGTGTCTGGGTGTGTGGTGTGTATGTTATGTGTCCGTGCACGTGGTGCACGTGTGCATACGCCTGCATGTGTTCATTTCTGTGCGCATGTGTTGTGTGTGTGTCCGGGTGTGTCCATTTCCGTGTGC
|
Task1_train_13490
|
This is a variant in KCNT1 (potassium sodium-activated channel subfamily T member 1), located on Chromosome 9. Is this mutation a likely cause of disease or not?
|
Pathogenic; Developmental and epileptic encephalopathy, 14
|
CTTGACAGATCGTTATTGATTCTGATGCTCGGACCCCCTCAGTTCACTGGGTGGGGTGGGGGCCTTCAAGCGGCTTCTGGGTGCTTCTGACACGATCCCCTCACCCTTTGAGCTCATCTGTGCTTTCCAACCGGAGATGTTCCAGCCACATCTTGGCCTTCGCCTGCTCCAGTCTGGAATGAACCACTTCTCCAAGGAACCCTGATTCCTTTTAGTGGAAAATGATGATTGGAAACCAAGACCTGGGCACGTGGCGTGCTCACTGCTGTTGGCATCCCTGCTCTGAGAAAACGTGTGTGCATACACATGACACGTATCTATGCCCACACCTAGATCTCTAGCCACATGCCAAAACCACATGTTCACATGGACACCGCCCTTTCCACCCCTGACATGACTGCTCTGTGCCGCCTGTGGGTACAGCTGTGGCATCTGGTGGTGCCTGTAGCTCCCCACAGGCGTGTGCAGGCCGTGAAAGGGCTGTGGGCCGAGAGGCTAACGGCTGGGTGTTCACGGGGGATGTTTGGTGAGGGGTCTGGGAGGGCTCCAGTGGCCAGCAGGAACCACAGCCCTGACTCCAGCCCTGACTCCAGCATCTGCCCCCAGGGCTGCAAGCACAACAGCTATGAAGACGCCAAGGCCTACGGGTTCAAGAACAAGCTGATCATCGTCTCGGCAGAGACGGCCGGCAATGGGCTGTACAACTTCATCGTGCCACTGCGGGCCTACTACAGATCCCGCAAGGAGCTGAACCCCATCGTGCTGCTGCTGGACAACAAGTGAGGCTCCTGGGGCTCAGCCCACCCCGCCCACCCGGGCCCTCAGACCTGCAGCCAGCAGCCTCCCCAACTGGGCCCACCCTTCGCCTTTGCAGAGGGCACGGGAACATGGGGCCTCTGGCCTGGTCCTCTCAGCTTTCCTAAAAAGGGGGACTCTCCTTCCTGCTCCCAACTCCTCCTGCTCCCAGCTCCTCCCCACACCCACTCCTGCTCCCAGCTCCTCCCCACCCCCAGCTCCTCTGGCTCCTGGGTCCTCCCTGCTCCCTGTTCCCCCAGTTCCCAGCTCCACCCAACTCCCAGCTCCTCCTTGCTTCCAGCTCCCCCAGTTCCCAGCTACTCTCCATTCCCAGCTCCTCCCCACTCCCAGCTTCTCCCCACTCCCAGTTCCCCCTCACTCCCAGCTCCTCCCTGCTCCCAGTTCCTCTGGCCACCAGCTCCTCCCCACTCCCAGTTCCTCTGTCTCCCAGCTCCTCCATGCTCTCAGCTCCTGTGGCTCCCAGCTCCTCCCACTCTGGTCCTCTCTCCCCCTTTCCCCCTCCTCCCTTGTCACTCCTTCTGTCCTGTTTGCCTCCTGCTCCACTCACTCTGAGCCCCAGGATTGGGGTGGAGGGATAAATGGCTCTTCCTCCTGGGCACCTTTTTGCCCAGGGGACCCTAGGACCCTGACAGCTGAGCCCAGGGTCATCTTGGCTGTGTGACCTCAGCAGGTCCCACCCTCCCGGGCCTTGGTTTCCCCTTGAATAAAATAAAGAATGGCCCACTGGCCTTAAAGTACTCCCCAGGTCCCATACGCTGCGGTTCTGGGGAACCCCTGCCTGGCCCAGCTCTGTGCATGGAGGGTAGGGCCCCACTGGGCCTGAGGAGGGCAGGCCTTGAAGCAGGGTGGGCCCCTCCAGGACCGCTGTCCCCACAGGCCCGACCACCACTTCCTGGAAGCCATCTGCTGCTTCCCCATGGTCTACTACATGGAGGGCTCTGTGGACAAGTAAGGCGTGGCCGGCCGAGGCTCGTGGGGGCTCCACACCCACCCCTCCCCTCCTCTTCCAAAGTCTGGGGTGACCCCGACCGCAGGTGGGGTGGGGGGCTGAGGTCCTCCTGCCTTCTGACCAAATCCCGGGGTCCTGTGGGTGGGGAGTGGGCCGCATCCTCAGCCACGGGCCCTCGGTCCCGCCACCAGCCTGGACAGCCTGCTGCAGTGTGGCATCATCTATGCGGACAACCTGGTGGTGGTGGACAAGGAGAGCACCATGAGCGCCGAGGAGGACTACATGGCGGACGCCAAGACCATCGTCAACGTGCAGACCATGTTCCGGTGCGTCCAGTGTCCGGGGCTCGGCTCTAAACCACCCCACAGCCACGACCACGGGCCCTCGCCCTGAGACCCCCACAGCCACGACCACGGGCCCTCGCCCTGAGACCCCCACAGCCACGACCACGGGCCCTCGCCCTGAGACCGCCACAGCCACGACCACGGGCCCTCGCCCTGAGACCCCCACAGCTATGACCACAAGCCCCCACCCTGAAACCCCCACAACCACAGCCATGGGACCACACCCTGAGACCCCCACAGCCATGGACTCTGCCCAGAGACCCCCACAGCCACGACCACAAGCCCTCCACCCTGAGAGTCCCACAGCCATGACCATGGGCCTCTGCCCTGAGACCCCCCACAGCCGTGGGACCCTGCCCTGAGACCCCCATAGCCAAGACAGTGGGCCCTGCCCTGAGACCCCCCCACAGCCATGGGACCCCGCCCTGAGACCCCCACAGCCACATGATCATGGGCCCCCACCCTGAGACCTCCTACAACCACCATGGGCCCCGCCCTGAGCCGCCTGCCTCCCCCAGGCTCTTCCCCAGCCTCAGCATCACCACGGAGCTCACCCACCCTTCCAACATGCGCTTCATGCAGTTCCGCGCCAAGGACAGCTACTCTCTGGCTCTTTCCAAACTAGAAAAGGTGAGCAGCCCTGCCCCGTGCCAGCTGCCACCCCAGAATCCCAGAAAGAGTGGGAGAAAGGGGCTCAGGGGAAAGGGGGCCAGTGCCATGGGAGGCTGGGCTCCTGCCGCCCTCCTGCTGGGGAACTCAGGAGATGGCGTGGGGGGCCCAGCATGGACAGGGTGCTCTTGATGGTGGAACCAGGAGATGGAGGCAGGGCGTTTCCCTGACCGCGTGTGAGGCACTGGGAATGTGGCCCATAGCAGCCTTCCATCTCCCTGAGCAGGGACCAGGCCTGGCCGTATCTGGAGGCCAAGGCCATCTGTCCTGGCATGGTCAGTTGGTCAGAACTCCCGTGGGGAGCCCTCAGATCGGTGGTTCCACATAGGTTGGCCAGTAGCTCTTAGTACAGATAACGCACACGGCTGCACCATTCCAGACTTCTCCGCTGCCCTGGCCACTACGCCCGACCTTGAAACAGGTTCAGTATAACCACTGCCTCCTTGTATTGACAAGGGACGGAGGGCCTGAGAGGGAAGGGGCCTGCCCCGGATCGCACAGTGGAGCAAGTGGCTGAGCTGGAATTGGCTTTCTGCCCTTGGAGCTCCATGAAGGGCACCACCCAGGGTCAGGTGTGGAACCCAGGGGCACGGGCACTGTTGCTGTTGCCTTGATATCTGGCTGACCCCAGCCCCACCGCATTCCCCACCTGCTCAAGCTGGGACAGCACCACCTTGTCCACACGGGGGCTGGTGCCCAGGCAGCCCTAGGCTGAGAGCAGGGAGCAGGCACCTTGGTCAGCAGCAATGCTGTCTGCTCTACACGAACCCCGAGCTCACCGGTCTGGGCTGAAGTCCTCATCGGCGAGCTGCTGGGACCTGCGTGGCTGCAGGATTGTGACACCGTGGAGGATCTACTGAGCCAGGCCCGGCCTGGCCACCAACACCAGGCAGAGGACACACACGGGCACTCCCTGCGACACGGACATGGCTTTGTCCCACCTGAACCCGATGGAGAGTGAAAGTGTGTTCCGGCCAGCCGTGGACCAAGAGCCCATAGGGATCCTGGAGTCAGTTCTGCCCCAGAGAAGCGAGAGGAGGCCGGGCTGGGCAGCCACCAGGTCAACAGGGGCTTCTGCCTTAGAGATGCCAGCCTGAGGCGTAGGGGGATGCTCGGGCACCTGGTCTCAGCACAGGAGAGGGCTCTGTCTGCCCTGCCCGCCGCCCAAGCCCACCCTGGAGCCTGCCCTGCCCAGCGTCGGGAGCTCCTGGCCCCAGTCCCCGGCTCAGCCGGCAGAGGGGTGTGCTCTGCAGCTGGAACCACGGAAGGGGAGGAAGTTCACAGGATTCTGTGTTCGGGTGCCGGGCCGCTCCCCAGG
|
CTTGACAGATCGTTATTGATTCTGATGCTCGGACCCCCTCAGTTCACTGGGTGGGGTGGGGGCCTTCAAGCGGCTTCTGGGTGCTTCTGACACGATCCCCTCACCCTTTGAGCTCATCTGTGCTTTCCAACCGGAGATGTTCCAGCCACATCTTGGCCTTCGCCTGCTCCAGTCTGGAATGAACCACTTCTCCAAGGAACCCTGATTCCTTTTAGTGGAAAATGATGATTGGAAACCAAGACCTGGGCACGTGGCGTGCTCACTGCTGTTGGCATCCCTGCTCTGAGAAAACGTGTGTGCATACACATGACACGTATCTATGCCCACACCTAGATCTCTAGCCACATGCCAAAACCACATGTTCACATGGACACCGCCCTTTCCACCCCTGACATGACTGCTCTGTGCCGCCTGTGGGTACAGCTGTGGCATCTGGTGGTGCCTGTAGCTCCCCACAGGCGTGTGCAGGCCGTGAAAGGGCTGTGGGCCGAGAGGCTAACGGCTGGGTGTTCACGGGGGATGTTTGGTGAGGGGTCTGGGAGGGCTCCAGTGGCCAGCAGGAACCACAGCCCTGACTCCAGCCCTGACTCCAGCATCTGCCCCCAGGGCTGCAAGCACAACAGCTATGAAGACGCCAAGGCCTACGGGTTCAAGAACAAGCTGATCATCGTCTCGGCAGAGACGGCCGGCAATGGGCTGTACAACTTCATCGTGCCACTGCGGGCCTACTACAGATCCCGCAAGGAGCTGAACCCCATCGTGCTGCTGCTGGACAACAAGTGAGGCTCCTGGGGCTCAGCCCACCCCGCCCACCCGGGCCCTCAGACCTGCAGCCAGCAGCCTCCCCAACTGGGCCCACCCTTCGCCTTTGCAGAGGGCACGGGAACATGGGGCCTCTGGCCTGGTCCTCTCAGCTTTCCTAAAAAGGGGGACTCTCCTTCCTGCTCCCAACTCCTCCTGCTCCCAGCTCCTCCCCACACCCACTCCTGCTCCCAGCTCCTCCCCACCCCCAGCTCCTCTGGCTCCTGGGTCCTCCCTGCTCCCTGTTCCCCCAGTTCCCAGCTCCACCCAACTCCCAGCTCCTCCTTGCTTCCAGCTCCCCCAGTTCCCAGCTACTCTCCATTCCCAGCTCCTCCCCACTCCCAGCTTCTCCCCACTCCCAGTTCCCCCTCACTCCCAGCTCCTCCCTGCTCCCAGTTCCTCTGGCCACCAGCTCCTCCCCACTCCCAGTTCCTCTGTCTCCCAGCTCCTCCATGCTCTCAGCTCCTGTGGCTCCCAGCTCCTCCCACTCTGGTCCTCTCTCCCCCTTTCCCCCTCCTCCCTTGTCACTCCTTCTGTCCTGTTTGCCTCCTGCTCCACTCACTCTGAGCCCCAGGATTGGGGTGGAGGGATAAATGGCTCTTCCTCCTGGGCACCTTTTTGCCCAGGGGACCCTAGGACCCTGACAGCTGAGCCCAGGGTCATCTTGGCTGTGTGACCTCAGCAGGTCCCACCCTCCCGGGCCTTGGTTTCCCCTTGAATAAAATAAAGAATGGCCCACTGGCCTTAAAGTACTCCCCAGGTCCCATACGCTGCGGTTCTGGGGAACCCCTGCCTGGCCCAGCTCTGTGCATGGAGGGTAGGGCCCCACTGGGCCTGAGGAGGGCAGGCCTTGAAGCAGGGTGGGCCCCTCCAGGACCGCTGTCCCCACAGGCCCGACCACCACTTCCTGGAAGCCATCTGCTGCTTCCCCATGGTCTACTACATGGAGGGCTCTGTGGACAAGTAAGGCGTGGCCGGCCGAGGCTCGTGGGGGCTCCACACCCACCCCTCCCCTCCTCTTCCAAAGTCTGGGGTGACCCCGACCGCAGGTGGGGTGGGGGGCTGAGGTCCTCCTGCCTTCTGACCAAATCCCGGGGTCCTGTGGGTGGGGAGTGGGCCGCATCCTCAGCCACGGGCCCTCGGTCCCGCCACCAGCCTGGACAGCCTGCTGCAGTGTGGCATCATCTATGCGGACAACCTGGTGGTGGTGGACAAGGAGAGCACCATGAGCGCCGAGGAGGACTACAAGGCGGACGCCAAGACCATCGTCAACGTGCAGACCATGTTCCGGTGCGTCCAGTGTCCGGGGCTCGGCTCTAAACCACCCCACAGCCACGACCACGGGCCCTCGCCCTGAGACCCCCACAGCCACGACCACGGGCCCTCGCCCTGAGACCCCCACAGCCACGACCACGGGCCCTCGCCCTGAGACCGCCACAGCCACGACCACGGGCCCTCGCCCTGAGACCCCCACAGCTATGACCACAAGCCCCCACCCTGAAACCCCCACAACCACAGCCATGGGACCACACCCTGAGACCCCCACAGCCATGGACTCTGCCCAGAGACCCCCACAGCCACGACCACAAGCCCTCCACCCTGAGAGTCCCACAGCCATGACCATGGGCCTCTGCCCTGAGACCCCCCACAGCCGTGGGACCCTGCCCTGAGACCCCCATAGCCAAGACAGTGGGCCCTGCCCTGAGACCCCCCCACAGCCATGGGACCCCGCCCTGAGACCCCCACAGCCACATGATCATGGGCCCCCACCCTGAGACCTCCTACAACCACCATGGGCCCCGCCCTGAGCCGCCTGCCTCCCCCAGGCTCTTCCCCAGCCTCAGCATCACCACGGAGCTCACCCACCCTTCCAACATGCGCTTCATGCAGTTCCGCGCCAAGGACAGCTACTCTCTGGCTCTTTCCAAACTAGAAAAGGTGAGCAGCCCTGCCCCGTGCCAGCTGCCACCCCAGAATCCCAGAAAGAGTGGGAGAAAGGGGCTCAGGGGAAAGGGGGCCAGTGCCATGGGAGGCTGGGCTCCTGCCGCCCTCCTGCTGGGGAACTCAGGAGATGGCGTGGGGGGCCCAGCATGGACAGGGTGCTCTTGATGGTGGAACCAGGAGATGGAGGCAGGGCGTTTCCCTGACCGCGTGTGAGGCACTGGGAATGTGGCCCATAGCAGCCTTCCATCTCCCTGAGCAGGGACCAGGCCTGGCCGTATCTGGAGGCCAAGGCCATCTGTCCTGGCATGGTCAGTTGGTCAGAACTCCCGTGGGGAGCCCTCAGATCGGTGGTTCCACATAGGTTGGCCAGTAGCTCTTAGTACAGATAACGCACACGGCTGCACCATTCCAGACTTCTCCGCTGCCCTGGCCACTACGCCCGACCTTGAAACAGGTTCAGTATAACCACTGCCTCCTTGTATTGACAAGGGACGGAGGGCCTGAGAGGGAAGGGGCCTGCCCCGGATCGCACAGTGGAGCAAGTGGCTGAGCTGGAATTGGCTTTCTGCCCTTGGAGCTCCATGAAGGGCACCACCCAGGGTCAGGTGTGGAACCCAGGGGCACGGGCACTGTTGCTGTTGCCTTGATATCTGGCTGACCCCAGCCCCACCGCATTCCCCACCTGCTCAAGCTGGGACAGCACCACCTTGTCCACACGGGGGCTGGTGCCCAGGCAGCCCTAGGCTGAGAGCAGGGAGCAGGCACCTTGGTCAGCAGCAATGCTGTCTGCTCTACACGAACCCCGAGCTCACCGGTCTGGGCTGAAGTCCTCATCGGCGAGCTGCTGGGACCTGCGTGGCTGCAGGATTGTGACACCGTGGAGGATCTACTGAGCCAGGCCCGGCCTGGCCACCAACACCAGGCAGAGGACACACACGGGCACTCCCTGCGACACGGACATGGCTTTGTCCCACCTGAACCCGATGGAGAGTGAAAGTGTGTTCCGGCCAGCCGTGGACCAAGAGCCCATAGGGATCCTGGAGTCAGTTCTGCCCCAGAGAAGCGAGAGGAGGCCGGGCTGGGCAGCCACCAGGTCAACAGGGGCTTCTGCCTTAGAGATGCCAGCCTGAGGCGTAGGGGGATGCTCGGGCACCTGGTCTCAGCACAGGAGAGGGCTCTGTCTGCCCTGCCCGCCGCCCAAGCCCACCCTGGAGCCTGCCCTGCCCAGCGTCGGGAGCTCCTGGCCCCAGTCCCCGGCTCAGCCGGCAGAGGGGTGTGCTCTGCAGCTGGAACCACGGAAGGGGAGGAAGTTCACAGGATTCTGTGTTCGGGTGCCGGGCCGCTCCCCAGG
|
Task1_train_13491
|
An alteration has been detected in KCNT1 (potassium sodium-activated channel subfamily T member 1) on Chromosome 9. Is it pathogenic, and if so, what disease is involved?
|
Pathogenic; Developmental and epileptic encephalopathy, 14
|
CTTGACAGATCGTTATTGATTCTGATGCTCGGACCCCCTCAGTTCACTGGGTGGGGTGGGGGCCTTCAAGCGGCTTCTGGGTGCTTCTGACACGATCCCCTCACCCTTTGAGCTCATCTGTGCTTTCCAACCGGAGATGTTCCAGCCACATCTTGGCCTTCGCCTGCTCCAGTCTGGAATGAACCACTTCTCCAAGGAACCCTGATTCCTTTTAGTGGAAAATGATGATTGGAAACCAAGACCTGGGCACGTGGCGTGCTCACTGCTGTTGGCATCCCTGCTCTGAGAAAACGTGTGTGCATACACATGACACGTATCTATGCCCACACCTAGATCTCTAGCCACATGCCAAAACCACATGTTCACATGGACACCGCCCTTTCCACCCCTGACATGACTGCTCTGTGCCGCCTGTGGGTACAGCTGTGGCATCTGGTGGTGCCTGTAGCTCCCCACAGGCGTGTGCAGGCCGTGAAAGGGCTGTGGGCCGAGAGGCTAACGGCTGGGTGTTCACGGGGGATGTTTGGTGAGGGGTCTGGGAGGGCTCCAGTGGCCAGCAGGAACCACAGCCCTGACTCCAGCCCTGACTCCAGCATCTGCCCCCAGGGCTGCAAGCACAACAGCTATGAAGACGCCAAGGCCTACGGGTTCAAGAACAAGCTGATCATCGTCTCGGCAGAGACGGCCGGCAATGGGCTGTACAACTTCATCGTGCCACTGCGGGCCTACTACAGATCCCGCAAGGAGCTGAACCCCATCGTGCTGCTGCTGGACAACAAGTGAGGCTCCTGGGGCTCAGCCCACCCCGCCCACCCGGGCCCTCAGACCTGCAGCCAGCAGCCTCCCCAACTGGGCCCACCCTTCGCCTTTGCAGAGGGCACGGGAACATGGGGCCTCTGGCCTGGTCCTCTCAGCTTTCCTAAAAAGGGGGACTCTCCTTCCTGCTCCCAACTCCTCCTGCTCCCAGCTCCTCCCCACACCCACTCCTGCTCCCAGCTCCTCCCCACCCCCAGCTCCTCTGGCTCCTGGGTCCTCCCTGCTCCCTGTTCCCCCAGTTCCCAGCTCCACCCAACTCCCAGCTCCTCCTTGCTTCCAGCTCCCCCAGTTCCCAGCTACTCTCCATTCCCAGCTCCTCCCCACTCCCAGCTTCTCCCCACTCCCAGTTCCCCCTCACTCCCAGCTCCTCCCTGCTCCCAGTTCCTCTGGCCACCAGCTCCTCCCCACTCCCAGTTCCTCTGTCTCCCAGCTCCTCCATGCTCTCAGCTCCTGTGGCTCCCAGCTCCTCCCACTCTGGTCCTCTCTCCCCCTTTCCCCCTCCTCCCTTGTCACTCCTTCTGTCCTGTTTGCCTCCTGCTCCACTCACTCTGAGCCCCAGGATTGGGGTGGAGGGATAAATGGCTCTTCCTCCTGGGCACCTTTTTGCCCAGGGGACCCTAGGACCCTGACAGCTGAGCCCAGGGTCATCTTGGCTGTGTGACCTCAGCAGGTCCCACCCTCCCGGGCCTTGGTTTCCCCTTGAATAAAATAAAGAATGGCCCACTGGCCTTAAAGTACTCCCCAGGTCCCATACGCTGCGGTTCTGGGGAACCCCTGCCTGGCCCAGCTCTGTGCATGGAGGGTAGGGCCCCACTGGGCCTGAGGAGGGCAGGCCTTGAAGCAGGGTGGGCCCCTCCAGGACCGCTGTCCCCACAGGCCCGACCACCACTTCCTGGAAGCCATCTGCTGCTTCCCCATGGTCTACTACATGGAGGGCTCTGTGGACAAGTAAGGCGTGGCCGGCCGAGGCTCGTGGGGGCTCCACACCCACCCCTCCCCTCCTCTTCCAAAGTCTGGGGTGACCCCGACCGCAGGTGGGGTGGGGGGCTGAGGTCCTCCTGCCTTCTGACCAAATCCCGGGGTCCTGTGGGTGGGGAGTGGGCCGCATCCTCAGCCACGGGCCCTCGGTCCCGCCACCAGCCTGGACAGCCTGCTGCAGTGTGGCATCATCTATGCGGACAACCTGGTGGTGGTGGACAAGGAGAGCACCATGAGCGCCGAGGAGGACTACATGGCGGACGCCAAGACCATCGTCAACGTGCAGACCATGTTCCGGTGCGTCCAGTGTCCGGGGCTCGGCTCTAAACCACCCCACAGCCACGACCACGGGCCCTCGCCCTGAGACCCCCACAGCCACGACCACGGGCCCTCGCCCTGAGACCCCCACAGCCACGACCACGGGCCCTCGCCCTGAGACCGCCACAGCCACGACCACGGGCCCTCGCCCTGAGACCCCCACAGCTATGACCACAAGCCCCCACCCTGAAACCCCCACAACCACAGCCATGGGACCACACCCTGAGACCCCCACAGCCATGGACTCTGCCCAGAGACCCCCACAGCCACGACCACAAGCCCTCCACCCTGAGAGTCCCACAGCCATGACCATGGGCCTCTGCCCTGAGACCCCCCACAGCCGTGGGACCCTGCCCTGAGACCCCCATAGCCAAGACAGTGGGCCCTGCCCTGAGACCCCCCCACAGCCATGGGACCCCGCCCTGAGACCCCCACAGCCACATGATCATGGGCCCCCACCCTGAGACCTCCTACAACCACCATGGGCCCCGCCCTGAGCCGCCTGCCTCCCCCAGGCTCTTCCCCAGCCTCAGCATCACCACGGAGCTCACCCACCCTTCCAACATGCGCTTCATGCAGTTCCGCGCCAAGGACAGCTACTCTCTGGCTCTTTCCAAACTAGAAAAGGTGAGCAGCCCTGCCCCGTGCCAGCTGCCACCCCAGAATCCCAGAAAGAGTGGGAGAAAGGGGCTCAGGGGAAAGGGGGCCAGTGCCATGGGAGGCTGGGCTCCTGCCGCCCTCCTGCTGGGGAACTCAGGAGATGGCGTGGGGGGCCCAGCATGGACAGGGTGCTCTTGATGGTGGAACCAGGAGATGGAGGCAGGGCGTTTCCCTGACCGCGTGTGAGGCACTGGGAATGTGGCCCATAGCAGCCTTCCATCTCCCTGAGCAGGGACCAGGCCTGGCCGTATCTGGAGGCCAAGGCCATCTGTCCTGGCATGGTCAGTTGGTCAGAACTCCCGTGGGGAGCCCTCAGATCGGTGGTTCCACATAGGTTGGCCAGTAGCTCTTAGTACAGATAACGCACACGGCTGCACCATTCCAGACTTCTCCGCTGCCCTGGCCACTACGCCCGACCTTGAAACAGGTTCAGTATAACCACTGCCTCCTTGTATTGACAAGGGACGGAGGGCCTGAGAGGGAAGGGGCCTGCCCCGGATCGCACAGTGGAGCAAGTGGCTGAGCTGGAATTGGCTTTCTGCCCTTGGAGCTCCATGAAGGGCACCACCCAGGGTCAGGTGTGGAACCCAGGGGCACGGGCACTGTTGCTGTTGCCTTGATATCTGGCTGACCCCAGCCCCACCGCATTCCCCACCTGCTCAAGCTGGGACAGCACCACCTTGTCCACACGGGGGCTGGTGCCCAGGCAGCCCTAGGCTGAGAGCAGGGAGCAGGCACCTTGGTCAGCAGCAATGCTGTCTGCTCTACACGAACCCCGAGCTCACCGGTCTGGGCTGAAGTCCTCATCGGCGAGCTGCTGGGACCTGCGTGGCTGCAGGATTGTGACACCGTGGAGGATCTACTGAGCCAGGCCCGGCCTGGCCACCAACACCAGGCAGAGGACACACACGGGCACTCCCTGCGACACGGACATGGCTTTGTCCCACCTGAACCCGATGGAGAGTGAAAGTGTGTTCCGGCCAGCCGTGGACCAAGAGCCCATAGGGATCCTGGAGTCAGTTCTGCCCCAGAGAAGCGAGAGGAGGCCGGGCTGGGCAGCCACCAGGTCAACAGGGGCTTCTGCCTTAGAGATGCCAGCCTGAGGCGTAGGGGGATGCTCGGGCACCTGGTCTCAGCACAGGAGAGGGCTCTGTCTGCCCTGCCCGCCGCCCAAGCCCACCCTGGAGCCTGCCCTGCCCAGCGTCGGGAGCTCCTGGCCCCAGTCCCCGGCTCAGCCGGCAGAGGGGTGTGCTCTGCAGCTGGAACCACGGAAGGGGAGGAAGTTCACAGGATTCTGTGTTCGGGTGCCGGGCCGCTCCCCAGG
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CTTGACAGATCGTTATTGATTCTGATGCTCGGACCCCCTCAGTTCACTGGGTGGGGTGGGGGCCTTCAAGCGGCTTCTGGGTGCTTCTGACACGATCCCCTCACCCTTTGAGCTCATCTGTGCTTTCCAACCGGAGATGTTCCAGCCACATCTTGGCCTTCGCCTGCTCCAGTCTGGAATGAACCACTTCTCCAAGGAACCCTGATTCCTTTTAGTGGAAAATGATGATTGGAAACCAAGACCTGGGCACGTGGCGTGCTCACTGCTGTTGGCATCCCTGCTCTGAGAAAACGTGTGTGCATACACATGACACGTATCTATGCCCACACCTAGATCTCTAGCCACATGCCAAAACCACATGTTCACATGGACACCGCCCTTTCCACCCCTGACATGACTGCTCTGTGCCGCCTGTGGGTACAGCTGTGGCATCTGGTGGTGCCTGTAGCTCCCCACAGGCGTGTGCAGGCCGTGAAAGGGCTGTGGGCCGAGAGGCTAACGGCTGGGTGTTCACGGGGGATGTTTGGTGAGGGGTCTGGGAGGGCTCCAGTGGCCAGCAGGAACCACAGCCCTGACTCCAGCCCTGACTCCAGCATCTGCCCCCAGGGCTGCAAGCACAACAGCTATGAAGACGCCAAGGCCTACGGGTTCAAGAACAAGCTGATCATCGTCTCGGCAGAGACGGCCGGCAATGGGCTGTACAACTTCATCGTGCCACTGCGGGCCTACTACAGATCCCGCAAGGAGCTGAACCCCATCGTGCTGCTGCTGGACAACAAGTGAGGCTCCTGGGGCTCAGCCCACCCCGCCCACCCGGGCCCTCAGACCTGCAGCCAGCAGCCTCCCCAACTGGGCCCACCCTTCGCCTTTGCAGAGGGCACGGGAACATGGGGCCTCTGGCCTGGTCCTCTCAGCTTTCCTAAAAAGGGGGACTCTCCTTCCTGCTCCCAACTCCTCCTGCTCCCAGCTCCTCCCCACACCCACTCCTGCTCCCAGCTCCTCCCCACCCCCAGCTCCTCTGGCTCCTGGGTCCTCCCTGCTCCCTGTTCCCCCAGTTCCCAGCTCCACCCAACTCCCAGCTCCTCCTTGCTTCCAGCTCCCCCAGTTCCCAGCTACTCTCCATTCCCAGCTCCTCCCCACTCCCAGCTTCTCCCCACTCCCAGTTCCCCCTCACTCCCAGCTCCTCCCTGCTCCCAGTTCCTCTGGCCACCAGCTCCTCCCCACTCCCAGTTCCTCTGTCTCCCAGCTCCTCCATGCTCTCAGCTCCTGTGGCTCCCAGCTCCTCCCACTCTGGTCCTCTCTCCCCCTTTCCCCCTCCTCCCTTGTCACTCCTTCTGTCCTGTTTGCCTCCTGCTCCACTCACTCTGAGCCCCAGGATTGGGGTGGAGGGATAAATGGCTCTTCCTCCTGGGCACCTTTTTGCCCAGGGGACCCTAGGACCCTGACAGCTGAGCCCAGGGTCATCTTGGCTGTGTGACCTCAGCAGGTCCCACCCTCCCGGGCCTTGGTTTCCCCTTGAATAAAATAAAGAATGGCCCACTGGCCTTAAAGTACTCCCCAGGTCCCATACGCTGCGGTTCTGGGGAACCCCTGCCTGGCCCAGCTCTGTGCATGGAGGGTAGGGCCCCACTGGGCCTGAGGAGGGCAGGCCTTGAAGCAGGGTGGGCCCCTCCAGGACCGCTGTCCCCACAGGCCCGACCACCACTTCCTGGAAGCCATCTGCTGCTTCCCCATGGTCTACTACATGGAGGGCTCTGTGGACAAGTAAGGCGTGGCCGGCCGAGGCTCGTGGGGGCTCCACACCCACCCCTCCCCTCCTCTTCCAAAGTCTGGGGTGACCCCGACCGCAGGTGGGGTGGGGGGCTGAGGTCCTCCTGCCTTCTGACCAAATCCCGGGGTCCTGTGGGTGGGGAGTGGGCCGCATCCTCAGCCACGGGCCCTCGGTCCCGCCACCAGCCTGGACAGCCTGCTGCAGTGTGGCATCATCTATGCGGACAACCTGGTGGTGGTGGACAAGGAGAGCACCATGAGCGCCGAGGAGGACTACAAGGCGGACGCCAAGACCATCGTCAACGTGCAGACCATGTTCCGGTGCGTCCAGTGTCCGGGGCTCGGCTCTAAACCACCCCACAGCCACGACCACGGGCCCTCGCCCTGAGACCCCCACAGCCACGACCACGGGCCCTCGCCCTGAGACCCCCACAGCCACGACCACGGGCCCTCGCCCTGAGACCGCCACAGCCACGACCACGGGCCCTCGCCCTGAGACCCCCACAGCTATGACCACAAGCCCCCACCCTGAAACCCCCACAACCACAGCCATGGGACCACACCCTGAGACCCCCACAGCCATGGACTCTGCCCAGAGACCCCCACAGCCACGACCACAAGCCCTCCACCCTGAGAGTCCCACAGCCATGACCATGGGCCTCTGCCCTGAGACCCCCCACAGCCGTGGGACCCTGCCCTGAGACCCCCATAGCCAAGACAGTGGGCCCTGCCCTGAGACCCCCCCACAGCCATGGGACCCCGCCCTGAGACCCCCACAGCCACATGATCATGGGCCCCCACCCTGAGACCTCCTACAACCACCATGGGCCCCGCCCTGAGCCGCCTGCCTCCCCCAGGCTCTTCCCCAGCCTCAGCATCACCACGGAGCTCACCCACCCTTCCAACATGCGCTTCATGCAGTTCCGCGCCAAGGACAGCTACTCTCTGGCTCTTTCCAAACTAGAAAAGGTGAGCAGCCCTGCCCCGTGCCAGCTGCCACCCCAGAATCCCAGAAAGAGTGGGAGAAAGGGGCTCAGGGGAAAGGGGGCCAGTGCCATGGGAGGCTGGGCTCCTGCCGCCCTCCTGCTGGGGAACTCAGGAGATGGCGTGGGGGGCCCAGCATGGACAGGGTGCTCTTGATGGTGGAACCAGGAGATGGAGGCAGGGCGTTTCCCTGACCGCGTGTGAGGCACTGGGAATGTGGCCCATAGCAGCCTTCCATCTCCCTGAGCAGGGACCAGGCCTGGCCGTATCTGGAGGCCAAGGCCATCTGTCCTGGCATGGTCAGTTGGTCAGAACTCCCGTGGGGAGCCCTCAGATCGGTGGTTCCACATAGGTTGGCCAGTAGCTCTTAGTACAGATAACGCACACGGCTGCACCATTCCAGACTTCTCCGCTGCCCTGGCCACTACGCCCGACCTTGAAACAGGTTCAGTATAACCACTGCCTCCTTGTATTGACAAGGGACGGAGGGCCTGAGAGGGAAGGGGCCTGCCCCGGATCGCACAGTGGAGCAAGTGGCTGAGCTGGAATTGGCTTTCTGCCCTTGGAGCTCCATGAAGGGCACCACCCAGGGTCAGGTGTGGAACCCAGGGGCACGGGCACTGTTGCTGTTGCCTTGATATCTGGCTGACCCCAGCCCCACCGCATTCCCCACCTGCTCAAGCTGGGACAGCACCACCTTGTCCACACGGGGGCTGGTGCCCAGGCAGCCCTAGGCTGAGAGCAGGGAGCAGGCACCTTGGTCAGCAGCAATGCTGTCTGCTCTACACGAACCCCGAGCTCACCGGTCTGGGCTGAAGTCCTCATCGGCGAGCTGCTGGGACCTGCGTGGCTGCAGGATTGTGACACCGTGGAGGATCTACTGAGCCAGGCCCGGCCTGGCCACCAACACCAGGCAGAGGACACACACGGGCACTCCCTGCGACACGGACATGGCTTTGTCCCACCTGAACCCGATGGAGAGTGAAAGTGTGTTCCGGCCAGCCGTGGACCAAGAGCCCATAGGGATCCTGGAGTCAGTTCTGCCCCAGAGAAGCGAGAGGAGGCCGGGCTGGGCAGCCACCAGGTCAACAGGGGCTTCTGCCTTAGAGATGCCAGCCTGAGGCGTAGGGGGATGCTCGGGCACCTGGTCTCAGCACAGGAGAGGGCTCTGTCTGCCCTGCCCGCCGCCCAAGCCCACCCTGGAGCCTGCCCTGCCCAGCGTCGGGAGCTCCTGGCCCCAGTCCCCGGCTCAGCCGGCAGAGGGGTGTGCTCTGCAGCTGGAACCACGGAAGGGGAGGAAGTTCACAGGATTCTGTGTTCGGGTGCCGGGCCGCTCCCCAGG
|
Task1_train_13492
|
A mutation on Chromosome 9 affecting KCNT1 (potassium sodium-activated channel subfamily T member 1) has been found. Is it harmful or harmless? What disease, if any, does it cause?
|
Pathogenic; Autosomal dominant nocturnal frontal lobe epilepsy 5
|
CTTGACAGATCGTTATTGATTCTGATGCTCGGACCCCCTCAGTTCACTGGGTGGGGTGGGGGCCTTCAAGCGGCTTCTGGGTGCTTCTGACACGATCCCCTCACCCTTTGAGCTCATCTGTGCTTTCCAACCGGAGATGTTCCAGCCACATCTTGGCCTTCGCCTGCTCCAGTCTGGAATGAACCACTTCTCCAAGGAACCCTGATTCCTTTTAGTGGAAAATGATGATTGGAAACCAAGACCTGGGCACGTGGCGTGCTCACTGCTGTTGGCATCCCTGCTCTGAGAAAACGTGTGTGCATACACATGACACGTATCTATGCCCACACCTAGATCTCTAGCCACATGCCAAAACCACATGTTCACATGGACACCGCCCTTTCCACCCCTGACATGACTGCTCTGTGCCGCCTGTGGGTACAGCTGTGGCATCTGGTGGTGCCTGTAGCTCCCCACAGGCGTGTGCAGGCCGTGAAAGGGCTGTGGGCCGAGAGGCTAACGGCTGGGTGTTCACGGGGGATGTTTGGTGAGGGGTCTGGGAGGGCTCCAGTGGCCAGCAGGAACCACAGCCCTGACTCCAGCCCTGACTCCAGCATCTGCCCCCAGGGCTGCAAGCACAACAGCTATGAAGACGCCAAGGCCTACGGGTTCAAGAACAAGCTGATCATCGTCTCGGCAGAGACGGCCGGCAATGGGCTGTACAACTTCATCGTGCCACTGCGGGCCTACTACAGATCCCGCAAGGAGCTGAACCCCATCGTGCTGCTGCTGGACAACAAGTGAGGCTCCTGGGGCTCAGCCCACCCCGCCCACCCGGGCCCTCAGACCTGCAGCCAGCAGCCTCCCCAACTGGGCCCACCCTTCGCCTTTGCAGAGGGCACGGGAACATGGGGCCTCTGGCCTGGTCCTCTCAGCTTTCCTAAAAAGGGGGACTCTCCTTCCTGCTCCCAACTCCTCCTGCTCCCAGCTCCTCCCCACACCCACTCCTGCTCCCAGCTCCTCCCCACCCCCAGCTCCTCTGGCTCCTGGGTCCTCCCTGCTCCCTGTTCCCCCAGTTCCCAGCTCCACCCAACTCCCAGCTCCTCCTTGCTTCCAGCTCCCCCAGTTCCCAGCTACTCTCCATTCCCAGCTCCTCCCCACTCCCAGCTTCTCCCCACTCCCAGTTCCCCCTCACTCCCAGCTCCTCCCTGCTCCCAGTTCCTCTGGCCACCAGCTCCTCCCCACTCCCAGTTCCTCTGTCTCCCAGCTCCTCCATGCTCTCAGCTCCTGTGGCTCCCAGCTCCTCCCACTCTGGTCCTCTCTCCCCCTTTCCCCCTCCTCCCTTGTCACTCCTTCTGTCCTGTTTGCCTCCTGCTCCACTCACTCTGAGCCCCAGGATTGGGGTGGAGGGATAAATGGCTCTTCCTCCTGGGCACCTTTTTGCCCAGGGGACCCTAGGACCCTGACAGCTGAGCCCAGGGTCATCTTGGCTGTGTGACCTCAGCAGGTCCCACCCTCCCGGGCCTTGGTTTCCCCTTGAATAAAATAAAGAATGGCCCACTGGCCTTAAAGTACTCCCCAGGTCCCATACGCTGCGGTTCTGGGGAACCCCTGCCTGGCCCAGCTCTGTGCATGGAGGGTAGGGCCCCACTGGGCCTGAGGAGGGCAGGCCTTGAAGCAGGGTGGGCCCCTCCAGGACCGCTGTCCCCACAGGCCCGACCACCACTTCCTGGAAGCCATCTGCTGCTTCCCCATGGTCTACTACATGGAGGGCTCTGTGGACAAGTAAGGCGTGGCCGGCCGAGGCTCGTGGGGGCTCCACACCCACCCCTCCCCTCCTCTTCCAAAGTCTGGGGTGACCCCGACCGCAGGTGGGGTGGGGGGCTGAGGTCCTCCTGCCTTCTGACCAAATCCCGGGGTCCTGTGGGTGGGGAGTGGGCCGCATCCTCAGCCACGGGCCCTCGGTCCCGCCACCAGCCTGGACAGCCTGCTGCAGTGTGGCATCATCTATGCGGACAACCTGGTGGTGGTGGACAAGGAGAGCACCATGAGCGCCGAGGAGGACTACATGGCGGACGCCAAGACCATCGTCAACGTGCAGACCATGTTCCGGTGCGTCCAGTGTCCGGGGCTCGGCTCTAAACCACCCCACAGCCACGACCACGGGCCCTCGCCCTGAGACCCCCACAGCCACGACCACGGGCCCTCGCCCTGAGACCCCCACAGCCACGACCACGGGCCCTCGCCCTGAGACCGCCACAGCCACGACCACGGGCCCTCGCCCTGAGACCCCCACAGCTATGACCACAAGCCCCCACCCTGAAACCCCCACAACCACAGCCATGGGACCACACCCTGAGACCCCCACAGCCATGGACTCTGCCCAGAGACCCCCACAGCCACGACCACAAGCCCTCCACCCTGAGAGTCCCACAGCCATGACCATGGGCCTCTGCCCTGAGACCCCCCACAGCCGTGGGACCCTGCCCTGAGACCCCCATAGCCAAGACAGTGGGCCCTGCCCTGAGACCCCCCCACAGCCATGGGACCCCGCCCTGAGACCCCCACAGCCACATGATCATGGGCCCCCACCCTGAGACCTCCTACAACCACCATGGGCCCCGCCCTGAGCCGCCTGCCTCCCCCAGGCTCTTCCCCAGCCTCAGCATCACCACGGAGCTCACCCACCCTTCCAACATGCGCTTCATGCAGTTCCGCGCCAAGGACAGCTACTCTCTGGCTCTTTCCAAACTAGAAAAGGTGAGCAGCCCTGCCCCGTGCCAGCTGCCACCCCAGAATCCCAGAAAGAGTGGGAGAAAGGGGCTCAGGGGAAAGGGGGCCAGTGCCATGGGAGGCTGGGCTCCTGCCGCCCTCCTGCTGGGGAACTCAGGAGATGGCGTGGGGGGCCCAGCATGGACAGGGTGCTCTTGATGGTGGAACCAGGAGATGGAGGCAGGGCGTTTCCCTGACCGCGTGTGAGGCACTGGGAATGTGGCCCATAGCAGCCTTCCATCTCCCTGAGCAGGGACCAGGCCTGGCCGTATCTGGAGGCCAAGGCCATCTGTCCTGGCATGGTCAGTTGGTCAGAACTCCCGTGGGGAGCCCTCAGATCGGTGGTTCCACATAGGTTGGCCAGTAGCTCTTAGTACAGATAACGCACACGGCTGCACCATTCCAGACTTCTCCGCTGCCCTGGCCACTACGCCCGACCTTGAAACAGGTTCAGTATAACCACTGCCTCCTTGTATTGACAAGGGACGGAGGGCCTGAGAGGGAAGGGGCCTGCCCCGGATCGCACAGTGGAGCAAGTGGCTGAGCTGGAATTGGCTTTCTGCCCTTGGAGCTCCATGAAGGGCACCACCCAGGGTCAGGTGTGGAACCCAGGGGCACGGGCACTGTTGCTGTTGCCTTGATATCTGGCTGACCCCAGCCCCACCGCATTCCCCACCTGCTCAAGCTGGGACAGCACCACCTTGTCCACACGGGGGCTGGTGCCCAGGCAGCCCTAGGCTGAGAGCAGGGAGCAGGCACCTTGGTCAGCAGCAATGCTGTCTGCTCTACACGAACCCCGAGCTCACCGGTCTGGGCTGAAGTCCTCATCGGCGAGCTGCTGGGACCTGCGTGGCTGCAGGATTGTGACACCGTGGAGGATCTACTGAGCCAGGCCCGGCCTGGCCACCAACACCAGGCAGAGGACACACACGGGCACTCCCTGCGACACGGACATGGCTTTGTCCCACCTGAACCCGATGGAGAGTGAAAGTGTGTTCCGGCCAGCCGTGGACCAAGAGCCCATAGGGATCCTGGAGTCAGTTCTGCCCCAGAGAAGCGAGAGGAGGCCGGGCTGGGCAGCCACCAGGTCAACAGGGGCTTCTGCCTTAGAGATGCCAGCCTGAGGCGTAGGGGGATGCTCGGGCACCTGGTCTCAGCACAGGAGAGGGCTCTGTCTGCCCTGCCCGCCGCCCAAGCCCACCCTGGAGCCTGCCCTGCCCAGCGTCGGGAGCTCCTGGCCCCAGTCCCCGGCTCAGCCGGCAGAGGGGTGTGCTCTGCAGCTGGAACCACGGAAGGGGAGGAAGTTCACAGGATTCTGTGTTCGGGTGCCGGGCCGCTCCCCAGG
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CTTGACAGATCGTTATTGATTCTGATGCTCGGACCCCCTCAGTTCACTGGGTGGGGTGGGGGCCTTCAAGCGGCTTCTGGGTGCTTCTGACACGATCCCCTCACCCTTTGAGCTCATCTGTGCTTTCCAACCGGAGATGTTCCAGCCACATCTTGGCCTTCGCCTGCTCCAGTCTGGAATGAACCACTTCTCCAAGGAACCCTGATTCCTTTTAGTGGAAAATGATGATTGGAAACCAAGACCTGGGCACGTGGCGTGCTCACTGCTGTTGGCATCCCTGCTCTGAGAAAACGTGTGTGCATACACATGACACGTATCTATGCCCACACCTAGATCTCTAGCCACATGCCAAAACCACATGTTCACATGGACACCGCCCTTTCCACCCCTGACATGACTGCTCTGTGCCGCCTGTGGGTACAGCTGTGGCATCTGGTGGTGCCTGTAGCTCCCCACAGGCGTGTGCAGGCCGTGAAAGGGCTGTGGGCCGAGAGGCTAACGGCTGGGTGTTCACGGGGGATGTTTGGTGAGGGGTCTGGGAGGGCTCCAGTGGCCAGCAGGAACCACAGCCCTGACTCCAGCCCTGACTCCAGCATCTGCCCCCAGGGCTGCAAGCACAACAGCTATGAAGACGCCAAGGCCTACGGGTTCAAGAACAAGCTGATCATCGTCTCGGCAGAGACGGCCGGCAATGGGCTGTACAACTTCATCGTGCCACTGCGGGCCTACTACAGATCCCGCAAGGAGCTGAACCCCATCGTGCTGCTGCTGGACAACAAGTGAGGCTCCTGGGGCTCAGCCCACCCCGCCCACCCGGGCCCTCAGACCTGCAGCCAGCAGCCTCCCCAACTGGGCCCACCCTTCGCCTTTGCAGAGGGCACGGGAACATGGGGCCTCTGGCCTGGTCCTCTCAGCTTTCCTAAAAAGGGGGACTCTCCTTCCTGCTCCCAACTCCTCCTGCTCCCAGCTCCTCCCCACACCCACTCCTGCTCCCAGCTCCTCCCCACCCCCAGCTCCTCTGGCTCCTGGGTCCTCCCTGCTCCCTGTTCCCCCAGTTCCCAGCTCCACCCAACTCCCAGCTCCTCCTTGCTTCCAGCTCCCCCAGTTCCCAGCTACTCTCCATTCCCAGCTCCTCCCCACTCCCAGCTTCTCCCCACTCCCAGTTCCCCCTCACTCCCAGCTCCTCCCTGCTCCCAGTTCCTCTGGCCACCAGCTCCTCCCCACTCCCAGTTCCTCTGTCTCCCAGCTCCTCCATGCTCTCAGCTCCTGTGGCTCCCAGCTCCTCCCACTCTGGTCCTCTCTCCCCCTTTCCCCCTCCTCCCTTGTCACTCCTTCTGTCCTGTTTGCCTCCTGCTCCACTCACTCTGAGCCCCAGGATTGGGGTGGAGGGATAAATGGCTCTTCCTCCTGGGCACCTTTTTGCCCAGGGGACCCTAGGACCCTGACAGCTGAGCCCAGGGTCATCTTGGCTGTGTGACCTCAGCAGGTCCCACCCTCCCGGGCCTTGGTTTCCCCTTGAATAAAATAAAGAATGGCCCACTGGCCTTAAAGTACTCCCCAGGTCCCATACGCTGCGGTTCTGGGGAACCCCTGCCTGGCCCAGCTCTGTGCATGGAGGGTAGGGCCCCACTGGGCCTGAGGAGGGCAGGCCTTGAAGCAGGGTGGGCCCCTCCAGGACCGCTGTCCCCACAGGCCCGACCACCACTTCCTGGAAGCCATCTGCTGCTTCCCCATGGTCTACTACATGGAGGGCTCTGTGGACAAGTAAGGCGTGGCCGGCCGAGGCTCGTGGGGGCTCCACACCCACCCCTCCCCTCCTCTTCCAAAGTCTGGGGTGACCCCGACCGCAGGTGGGGTGGGGGGCTGAGGTCCTCCTGCCTTCTGACCAAATCCCGGGGTCCTGTGGGTGGGGAGTGGGCCGCATCCTCAGCCACGGGCCCTCGGTCCCGCCACCAGCCTGGACAGCCTGCTGCAGTGTGGCATCATCTATGCGGACAACCTGGTGGTGGTGGACAAGGAGAGCACCATGAGCGCCGAGGAGGACTACAAGGCGGACGCCAAGACCATCGTCAACGTGCAGACCATGTTCCGGTGCGTCCAGTGTCCGGGGCTCGGCTCTAAACCACCCCACAGCCACGACCACGGGCCCTCGCCCTGAGACCCCCACAGCCACGACCACGGGCCCTCGCCCTGAGACCCCCACAGCCACGACCACGGGCCCTCGCCCTGAGACCGCCACAGCCACGACCACGGGCCCTCGCCCTGAGACCCCCACAGCTATGACCACAAGCCCCCACCCTGAAACCCCCACAACCACAGCCATGGGACCACACCCTGAGACCCCCACAGCCATGGACTCTGCCCAGAGACCCCCACAGCCACGACCACAAGCCCTCCACCCTGAGAGTCCCACAGCCATGACCATGGGCCTCTGCCCTGAGACCCCCCACAGCCGTGGGACCCTGCCCTGAGACCCCCATAGCCAAGACAGTGGGCCCTGCCCTGAGACCCCCCCACAGCCATGGGACCCCGCCCTGAGACCCCCACAGCCACATGATCATGGGCCCCCACCCTGAGACCTCCTACAACCACCATGGGCCCCGCCCTGAGCCGCCTGCCTCCCCCAGGCTCTTCCCCAGCCTCAGCATCACCACGGAGCTCACCCACCCTTCCAACATGCGCTTCATGCAGTTCCGCGCCAAGGACAGCTACTCTCTGGCTCTTTCCAAACTAGAAAAGGTGAGCAGCCCTGCCCCGTGCCAGCTGCCACCCCAGAATCCCAGAAAGAGTGGGAGAAAGGGGCTCAGGGGAAAGGGGGCCAGTGCCATGGGAGGCTGGGCTCCTGCCGCCCTCCTGCTGGGGAACTCAGGAGATGGCGTGGGGGGCCCAGCATGGACAGGGTGCTCTTGATGGTGGAACCAGGAGATGGAGGCAGGGCGTTTCCCTGACCGCGTGTGAGGCACTGGGAATGTGGCCCATAGCAGCCTTCCATCTCCCTGAGCAGGGACCAGGCCTGGCCGTATCTGGAGGCCAAGGCCATCTGTCCTGGCATGGTCAGTTGGTCAGAACTCCCGTGGGGAGCCCTCAGATCGGTGGTTCCACATAGGTTGGCCAGTAGCTCTTAGTACAGATAACGCACACGGCTGCACCATTCCAGACTTCTCCGCTGCCCTGGCCACTACGCCCGACCTTGAAACAGGTTCAGTATAACCACTGCCTCCTTGTATTGACAAGGGACGGAGGGCCTGAGAGGGAAGGGGCCTGCCCCGGATCGCACAGTGGAGCAAGTGGCTGAGCTGGAATTGGCTTTCTGCCCTTGGAGCTCCATGAAGGGCACCACCCAGGGTCAGGTGTGGAACCCAGGGGCACGGGCACTGTTGCTGTTGCCTTGATATCTGGCTGACCCCAGCCCCACCGCATTCCCCACCTGCTCAAGCTGGGACAGCACCACCTTGTCCACACGGGGGCTGGTGCCCAGGCAGCCCTAGGCTGAGAGCAGGGAGCAGGCACCTTGGTCAGCAGCAATGCTGTCTGCTCTACACGAACCCCGAGCTCACCGGTCTGGGCTGAAGTCCTCATCGGCGAGCTGCTGGGACCTGCGTGGCTGCAGGATTGTGACACCGTGGAGGATCTACTGAGCCAGGCCCGGCCTGGCCACCAACACCAGGCAGAGGACACACACGGGCACTCCCTGCGACACGGACATGGCTTTGTCCCACCTGAACCCGATGGAGAGTGAAAGTGTGTTCCGGCCAGCCGTGGACCAAGAGCCCATAGGGATCCTGGAGTCAGTTCTGCCCCAGAGAAGCGAGAGGAGGCCGGGCTGGGCAGCCACCAGGTCAACAGGGGCTTCTGCCTTAGAGATGCCAGCCTGAGGCGTAGGGGGATGCTCGGGCACCTGGTCTCAGCACAGGAGAGGGCTCTGTCTGCCCTGCCCGCCGCCCAAGCCCACCCTGGAGCCTGCCCTGCCCAGCGTCGGGAGCTCCTGGCCCCAGTCCCCGGCTCAGCCGGCAGAGGGGTGTGCTCTGCAGCTGGAACCACGGAAGGGGAGGAAGTTCACAGGATTCTGTGTTCGGGTGCCGGGCCGCTCCCCAGG
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Task1_train_13493
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This mutation occurs in KCNT1 (potassium sodium-activated channel subfamily T member 1) on Chromosome 9. Does this change lead to a known medical condition, or is it benign?
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Pathogenic; Autosomal dominant nocturnal frontal lobe epilepsy 5
|
CTTGACAGATCGTTATTGATTCTGATGCTCGGACCCCCTCAGTTCACTGGGTGGGGTGGGGGCCTTCAAGCGGCTTCTGGGTGCTTCTGACACGATCCCCTCACCCTTTGAGCTCATCTGTGCTTTCCAACCGGAGATGTTCCAGCCACATCTTGGCCTTCGCCTGCTCCAGTCTGGAATGAACCACTTCTCCAAGGAACCCTGATTCCTTTTAGTGGAAAATGATGATTGGAAACCAAGACCTGGGCACGTGGCGTGCTCACTGCTGTTGGCATCCCTGCTCTGAGAAAACGTGTGTGCATACACATGACACGTATCTATGCCCACACCTAGATCTCTAGCCACATGCCAAAACCACATGTTCACATGGACACCGCCCTTTCCACCCCTGACATGACTGCTCTGTGCCGCCTGTGGGTACAGCTGTGGCATCTGGTGGTGCCTGTAGCTCCCCACAGGCGTGTGCAGGCCGTGAAAGGGCTGTGGGCCGAGAGGCTAACGGCTGGGTGTTCACGGGGGATGTTTGGTGAGGGGTCTGGGAGGGCTCCAGTGGCCAGCAGGAACCACAGCCCTGACTCCAGCCCTGACTCCAGCATCTGCCCCCAGGGCTGCAAGCACAACAGCTATGAAGACGCCAAGGCCTACGGGTTCAAGAACAAGCTGATCATCGTCTCGGCAGAGACGGCCGGCAATGGGCTGTACAACTTCATCGTGCCACTGCGGGCCTACTACAGATCCCGCAAGGAGCTGAACCCCATCGTGCTGCTGCTGGACAACAAGTGAGGCTCCTGGGGCTCAGCCCACCCCGCCCACCCGGGCCCTCAGACCTGCAGCCAGCAGCCTCCCCAACTGGGCCCACCCTTCGCCTTTGCAGAGGGCACGGGAACATGGGGCCTCTGGCCTGGTCCTCTCAGCTTTCCTAAAAAGGGGGACTCTCCTTCCTGCTCCCAACTCCTCCTGCTCCCAGCTCCTCCCCACACCCACTCCTGCTCCCAGCTCCTCCCCACCCCCAGCTCCTCTGGCTCCTGGGTCCTCCCTGCTCCCTGTTCCCCCAGTTCCCAGCTCCACCCAACTCCCAGCTCCTCCTTGCTTCCAGCTCCCCCAGTTCCCAGCTACTCTCCATTCCCAGCTCCTCCCCACTCCCAGCTTCTCCCCACTCCCAGTTCCCCCTCACTCCCAGCTCCTCCCTGCTCCCAGTTCCTCTGGCCACCAGCTCCTCCCCACTCCCAGTTCCTCTGTCTCCCAGCTCCTCCATGCTCTCAGCTCCTGTGGCTCCCAGCTCCTCCCACTCTGGTCCTCTCTCCCCCTTTCCCCCTCCTCCCTTGTCACTCCTTCTGTCCTGTTTGCCTCCTGCTCCACTCACTCTGAGCCCCAGGATTGGGGTGGAGGGATAAATGGCTCTTCCTCCTGGGCACCTTTTTGCCCAGGGGACCCTAGGACCCTGACAGCTGAGCCCAGGGTCATCTTGGCTGTGTGACCTCAGCAGGTCCCACCCTCCCGGGCCTTGGTTTCCCCTTGAATAAAATAAAGAATGGCCCACTGGCCTTAAAGTACTCCCCAGGTCCCATACGCTGCGGTTCTGGGGAACCCCTGCCTGGCCCAGCTCTGTGCATGGAGGGTAGGGCCCCACTGGGCCTGAGGAGGGCAGGCCTTGAAGCAGGGTGGGCCCCTCCAGGACCGCTGTCCCCACAGGCCCGACCACCACTTCCTGGAAGCCATCTGCTGCTTCCCCATGGTCTACTACATGGAGGGCTCTGTGGACAAGTAAGGCGTGGCCGGCCGAGGCTCGTGGGGGCTCCACACCCACCCCTCCCCTCCTCTTCCAAAGTCTGGGGTGACCCCGACCGCAGGTGGGGTGGGGGGCTGAGGTCCTCCTGCCTTCTGACCAAATCCCGGGGTCCTGTGGGTGGGGAGTGGGCCGCATCCTCAGCCACGGGCCCTCGGTCCCGCCACCAGCCTGGACAGCCTGCTGCAGTGTGGCATCATCTATGCGGACAACCTGGTGGTGGTGGACAAGGAGAGCACCATGAGCGCCGAGGAGGACTACATGGCGGACGCCAAGACCATCGTCAACGTGCAGACCATGTTCCGGTGCGTCCAGTGTCCGGGGCTCGGCTCTAAACCACCCCACAGCCACGACCACGGGCCCTCGCCCTGAGACCCCCACAGCCACGACCACGGGCCCTCGCCCTGAGACCCCCACAGCCACGACCACGGGCCCTCGCCCTGAGACCGCCACAGCCACGACCACGGGCCCTCGCCCTGAGACCCCCACAGCTATGACCACAAGCCCCCACCCTGAAACCCCCACAACCACAGCCATGGGACCACACCCTGAGACCCCCACAGCCATGGACTCTGCCCAGAGACCCCCACAGCCACGACCACAAGCCCTCCACCCTGAGAGTCCCACAGCCATGACCATGGGCCTCTGCCCTGAGACCCCCCACAGCCGTGGGACCCTGCCCTGAGACCCCCATAGCCAAGACAGTGGGCCCTGCCCTGAGACCCCCCCACAGCCATGGGACCCCGCCCTGAGACCCCCACAGCCACATGATCATGGGCCCCCACCCTGAGACCTCCTACAACCACCATGGGCCCCGCCCTGAGCCGCCTGCCTCCCCCAGGCTCTTCCCCAGCCTCAGCATCACCACGGAGCTCACCCACCCTTCCAACATGCGCTTCATGCAGTTCCGCGCCAAGGACAGCTACTCTCTGGCTCTTTCCAAACTAGAAAAGGTGAGCAGCCCTGCCCCGTGCCAGCTGCCACCCCAGAATCCCAGAAAGAGTGGGAGAAAGGGGCTCAGGGGAAAGGGGGCCAGTGCCATGGGAGGCTGGGCTCCTGCCGCCCTCCTGCTGGGGAACTCAGGAGATGGCGTGGGGGGCCCAGCATGGACAGGGTGCTCTTGATGGTGGAACCAGGAGATGGAGGCAGGGCGTTTCCCTGACCGCGTGTGAGGCACTGGGAATGTGGCCCATAGCAGCCTTCCATCTCCCTGAGCAGGGACCAGGCCTGGCCGTATCTGGAGGCCAAGGCCATCTGTCCTGGCATGGTCAGTTGGTCAGAACTCCCGTGGGGAGCCCTCAGATCGGTGGTTCCACATAGGTTGGCCAGTAGCTCTTAGTACAGATAACGCACACGGCTGCACCATTCCAGACTTCTCCGCTGCCCTGGCCACTACGCCCGACCTTGAAACAGGTTCAGTATAACCACTGCCTCCTTGTATTGACAAGGGACGGAGGGCCTGAGAGGGAAGGGGCCTGCCCCGGATCGCACAGTGGAGCAAGTGGCTGAGCTGGAATTGGCTTTCTGCCCTTGGAGCTCCATGAAGGGCACCACCCAGGGTCAGGTGTGGAACCCAGGGGCACGGGCACTGTTGCTGTTGCCTTGATATCTGGCTGACCCCAGCCCCACCGCATTCCCCACCTGCTCAAGCTGGGACAGCACCACCTTGTCCACACGGGGGCTGGTGCCCAGGCAGCCCTAGGCTGAGAGCAGGGAGCAGGCACCTTGGTCAGCAGCAATGCTGTCTGCTCTACACGAACCCCGAGCTCACCGGTCTGGGCTGAAGTCCTCATCGGCGAGCTGCTGGGACCTGCGTGGCTGCAGGATTGTGACACCGTGGAGGATCTACTGAGCCAGGCCCGGCCTGGCCACCAACACCAGGCAGAGGACACACACGGGCACTCCCTGCGACACGGACATGGCTTTGTCCCACCTGAACCCGATGGAGAGTGAAAGTGTGTTCCGGCCAGCCGTGGACCAAGAGCCCATAGGGATCCTGGAGTCAGTTCTGCCCCAGAGAAGCGAGAGGAGGCCGGGCTGGGCAGCCACCAGGTCAACAGGGGCTTCTGCCTTAGAGATGCCAGCCTGAGGCGTAGGGGGATGCTCGGGCACCTGGTCTCAGCACAGGAGAGGGCTCTGTCTGCCCTGCCCGCCGCCCAAGCCCACCCTGGAGCCTGCCCTGCCCAGCGTCGGGAGCTCCTGGCCCCAGTCCCCGGCTCAGCCGGCAGAGGGGTGTGCTCTGCAGCTGGAACCACGGAAGGGGAGGAAGTTCACAGGATTCTGTGTTCGGGTGCCGGGCCGCTCCCCAGG
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CTTGACAGATCGTTATTGATTCTGATGCTCGGACCCCCTCAGTTCACTGGGTGGGGTGGGGGCCTTCAAGCGGCTTCTGGGTGCTTCTGACACGATCCCCTCACCCTTTGAGCTCATCTGTGCTTTCCAACCGGAGATGTTCCAGCCACATCTTGGCCTTCGCCTGCTCCAGTCTGGAATGAACCACTTCTCCAAGGAACCCTGATTCCTTTTAGTGGAAAATGATGATTGGAAACCAAGACCTGGGCACGTGGCGTGCTCACTGCTGTTGGCATCCCTGCTCTGAGAAAACGTGTGTGCATACACATGACACGTATCTATGCCCACACCTAGATCTCTAGCCACATGCCAAAACCACATGTTCACATGGACACCGCCCTTTCCACCCCTGACATGACTGCTCTGTGCCGCCTGTGGGTACAGCTGTGGCATCTGGTGGTGCCTGTAGCTCCCCACAGGCGTGTGCAGGCCGTGAAAGGGCTGTGGGCCGAGAGGCTAACGGCTGGGTGTTCACGGGGGATGTTTGGTGAGGGGTCTGGGAGGGCTCCAGTGGCCAGCAGGAACCACAGCCCTGACTCCAGCCCTGACTCCAGCATCTGCCCCCAGGGCTGCAAGCACAACAGCTATGAAGACGCCAAGGCCTACGGGTTCAAGAACAAGCTGATCATCGTCTCGGCAGAGACGGCCGGCAATGGGCTGTACAACTTCATCGTGCCACTGCGGGCCTACTACAGATCCCGCAAGGAGCTGAACCCCATCGTGCTGCTGCTGGACAACAAGTGAGGCTCCTGGGGCTCAGCCCACCCCGCCCACCCGGGCCCTCAGACCTGCAGCCAGCAGCCTCCCCAACTGGGCCCACCCTTCGCCTTTGCAGAGGGCACGGGAACATGGGGCCTCTGGCCTGGTCCTCTCAGCTTTCCTAAAAAGGGGGACTCTCCTTCCTGCTCCCAACTCCTCCTGCTCCCAGCTCCTCCCCACACCCACTCCTGCTCCCAGCTCCTCCCCACCCCCAGCTCCTCTGGCTCCTGGGTCCTCCCTGCTCCCTGTTCCCCCAGTTCCCAGCTCCACCCAACTCCCAGCTCCTCCTTGCTTCCAGCTCCCCCAGTTCCCAGCTACTCTCCATTCCCAGCTCCTCCCCACTCCCAGCTTCTCCCCACTCCCAGTTCCCCCTCACTCCCAGCTCCTCCCTGCTCCCAGTTCCTCTGGCCACCAGCTCCTCCCCACTCCCAGTTCCTCTGTCTCCCAGCTCCTCCATGCTCTCAGCTCCTGTGGCTCCCAGCTCCTCCCACTCTGGTCCTCTCTCCCCCTTTCCCCCTCCTCCCTTGTCACTCCTTCTGTCCTGTTTGCCTCCTGCTCCACTCACTCTGAGCCCCAGGATTGGGGTGGAGGGATAAATGGCTCTTCCTCCTGGGCACCTTTTTGCCCAGGGGACCCTAGGACCCTGACAGCTGAGCCCAGGGTCATCTTGGCTGTGTGACCTCAGCAGGTCCCACCCTCCCGGGCCTTGGTTTCCCCTTGAATAAAATAAAGAATGGCCCACTGGCCTTAAAGTACTCCCCAGGTCCCATACGCTGCGGTTCTGGGGAACCCCTGCCTGGCCCAGCTCTGTGCATGGAGGGTAGGGCCCCACTGGGCCTGAGGAGGGCAGGCCTTGAAGCAGGGTGGGCCCCTCCAGGACCGCTGTCCCCACAGGCCCGACCACCACTTCCTGGAAGCCATCTGCTGCTTCCCCATGGTCTACTACATGGAGGGCTCTGTGGACAAGTAAGGCGTGGCCGGCCGAGGCTCGTGGGGGCTCCACACCCACCCCTCCCCTCCTCTTCCAAAGTCTGGGGTGACCCCGACCGCAGGTGGGGTGGGGGGCTGAGGTCCTCCTGCCTTCTGACCAAATCCCGGGGTCCTGTGGGTGGGGAGTGGGCCGCATCCTCAGCCACGGGCCCTCGGTCCCGCCACCAGCCTGGACAGCCTGCTGCAGTGTGGCATCATCTATGCGGACAACCTGGTGGTGGTGGACAAGGAGAGCACCATGAGCGCCGAGGAGGACTACAGGGCGGACGCCAAGACCATCGTCAACGTGCAGACCATGTTCCGGTGCGTCCAGTGTCCGGGGCTCGGCTCTAAACCACCCCACAGCCACGACCACGGGCCCTCGCCCTGAGACCCCCACAGCCACGACCACGGGCCCTCGCCCTGAGACCCCCACAGCCACGACCACGGGCCCTCGCCCTGAGACCGCCACAGCCACGACCACGGGCCCTCGCCCTGAGACCCCCACAGCTATGACCACAAGCCCCCACCCTGAAACCCCCACAACCACAGCCATGGGACCACACCCTGAGACCCCCACAGCCATGGACTCTGCCCAGAGACCCCCACAGCCACGACCACAAGCCCTCCACCCTGAGAGTCCCACAGCCATGACCATGGGCCTCTGCCCTGAGACCCCCCACAGCCGTGGGACCCTGCCCTGAGACCCCCATAGCCAAGACAGTGGGCCCTGCCCTGAGACCCCCCCACAGCCATGGGACCCCGCCCTGAGACCCCCACAGCCACATGATCATGGGCCCCCACCCTGAGACCTCCTACAACCACCATGGGCCCCGCCCTGAGCCGCCTGCCTCCCCCAGGCTCTTCCCCAGCCTCAGCATCACCACGGAGCTCACCCACCCTTCCAACATGCGCTTCATGCAGTTCCGCGCCAAGGACAGCTACTCTCTGGCTCTTTCCAAACTAGAAAAGGTGAGCAGCCCTGCCCCGTGCCAGCTGCCACCCCAGAATCCCAGAAAGAGTGGGAGAAAGGGGCTCAGGGGAAAGGGGGCCAGTGCCATGGGAGGCTGGGCTCCTGCCGCCCTCCTGCTGGGGAACTCAGGAGATGGCGTGGGGGGCCCAGCATGGACAGGGTGCTCTTGATGGTGGAACCAGGAGATGGAGGCAGGGCGTTTCCCTGACCGCGTGTGAGGCACTGGGAATGTGGCCCATAGCAGCCTTCCATCTCCCTGAGCAGGGACCAGGCCTGGCCGTATCTGGAGGCCAAGGCCATCTGTCCTGGCATGGTCAGTTGGTCAGAACTCCCGTGGGGAGCCCTCAGATCGGTGGTTCCACATAGGTTGGCCAGTAGCTCTTAGTACAGATAACGCACACGGCTGCACCATTCCAGACTTCTCCGCTGCCCTGGCCACTACGCCCGACCTTGAAACAGGTTCAGTATAACCACTGCCTCCTTGTATTGACAAGGGACGGAGGGCCTGAGAGGGAAGGGGCCTGCCCCGGATCGCACAGTGGAGCAAGTGGCTGAGCTGGAATTGGCTTTCTGCCCTTGGAGCTCCATGAAGGGCACCACCCAGGGTCAGGTGTGGAACCCAGGGGCACGGGCACTGTTGCTGTTGCCTTGATATCTGGCTGACCCCAGCCCCACCGCATTCCCCACCTGCTCAAGCTGGGACAGCACCACCTTGTCCACACGGGGGCTGGTGCCCAGGCAGCCCTAGGCTGAGAGCAGGGAGCAGGCACCTTGGTCAGCAGCAATGCTGTCTGCTCTACACGAACCCCGAGCTCACCGGTCTGGGCTGAAGTCCTCATCGGCGAGCTGCTGGGACCTGCGTGGCTGCAGGATTGTGACACCGTGGAGGATCTACTGAGCCAGGCCCGGCCTGGCCACCAACACCAGGCAGAGGACACACACGGGCACTCCCTGCGACACGGACATGGCTTTGTCCCACCTGAACCCGATGGAGAGTGAAAGTGTGTTCCGGCCAGCCGTGGACCAAGAGCCCATAGGGATCCTGGAGTCAGTTCTGCCCCAGAGAAGCGAGAGGAGGCCGGGCTGGGCAGCCACCAGGTCAACAGGGGCTTCTGCCTTAGAGATGCCAGCCTGAGGCGTAGGGGGATGCTCGGGCACCTGGTCTCAGCACAGGAGAGGGCTCTGTCTGCCCTGCCCGCCGCCCAAGCCCACCCTGGAGCCTGCCCTGCCCAGCGTCGGGAGCTCCTGGCCCCAGTCCCCGGCTCAGCCGGCAGAGGGGTGTGCTCTGCAGCTGGAACCACGGAAGGGGAGGAAGTTCACAGGATTCTGTGTTCGGGTGCCGGGCCGCTCCCCAGG
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Task1_train_13494
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A genomic change on Chromosome 9 affects KCNT1 (potassium sodium-activated channel subfamily T member 1). Classify this variant as benign or pathogenic, and name the disease if relevant.
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Pathogenic; Developmental and epileptic encephalopathy, 14
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CTTGACAGATCGTTATTGATTCTGATGCTCGGACCCCCTCAGTTCACTGGGTGGGGTGGGGGCCTTCAAGCGGCTTCTGGGTGCTTCTGACACGATCCCCTCACCCTTTGAGCTCATCTGTGCTTTCCAACCGGAGATGTTCCAGCCACATCTTGGCCTTCGCCTGCTCCAGTCTGGAATGAACCACTTCTCCAAGGAACCCTGATTCCTTTTAGTGGAAAATGATGATTGGAAACCAAGACCTGGGCACGTGGCGTGCTCACTGCTGTTGGCATCCCTGCTCTGAGAAAACGTGTGTGCATACACATGACACGTATCTATGCCCACACCTAGATCTCTAGCCACATGCCAAAACCACATGTTCACATGGACACCGCCCTTTCCACCCCTGACATGACTGCTCTGTGCCGCCTGTGGGTACAGCTGTGGCATCTGGTGGTGCCTGTAGCTCCCCACAGGCGTGTGCAGGCCGTGAAAGGGCTGTGGGCCGAGAGGCTAACGGCTGGGTGTTCACGGGGGATGTTTGGTGAGGGGTCTGGGAGGGCTCCAGTGGCCAGCAGGAACCACAGCCCTGACTCCAGCCCTGACTCCAGCATCTGCCCCCAGGGCTGCAAGCACAACAGCTATGAAGACGCCAAGGCCTACGGGTTCAAGAACAAGCTGATCATCGTCTCGGCAGAGACGGCCGGCAATGGGCTGTACAACTTCATCGTGCCACTGCGGGCCTACTACAGATCCCGCAAGGAGCTGAACCCCATCGTGCTGCTGCTGGACAACAAGTGAGGCTCCTGGGGCTCAGCCCACCCCGCCCACCCGGGCCCTCAGACCTGCAGCCAGCAGCCTCCCCAACTGGGCCCACCCTTCGCCTTTGCAGAGGGCACGGGAACATGGGGCCTCTGGCCTGGTCCTCTCAGCTTTCCTAAAAAGGGGGACTCTCCTTCCTGCTCCCAACTCCTCCTGCTCCCAGCTCCTCCCCACACCCACTCCTGCTCCCAGCTCCTCCCCACCCCCAGCTCCTCTGGCTCCTGGGTCCTCCCTGCTCCCTGTTCCCCCAGTTCCCAGCTCCACCCAACTCCCAGCTCCTCCTTGCTTCCAGCTCCCCCAGTTCCCAGCTACTCTCCATTCCCAGCTCCTCCCCACTCCCAGCTTCTCCCCACTCCCAGTTCCCCCTCACTCCCAGCTCCTCCCTGCTCCCAGTTCCTCTGGCCACCAGCTCCTCCCCACTCCCAGTTCCTCTGTCTCCCAGCTCCTCCATGCTCTCAGCTCCTGTGGCTCCCAGCTCCTCCCACTCTGGTCCTCTCTCCCCCTTTCCCCCTCCTCCCTTGTCACTCCTTCTGTCCTGTTTGCCTCCTGCTCCACTCACTCTGAGCCCCAGGATTGGGGTGGAGGGATAAATGGCTCTTCCTCCTGGGCACCTTTTTGCCCAGGGGACCCTAGGACCCTGACAGCTGAGCCCAGGGTCATCTTGGCTGTGTGACCTCAGCAGGTCCCACCCTCCCGGGCCTTGGTTTCCCCTTGAATAAAATAAAGAATGGCCCACTGGCCTTAAAGTACTCCCCAGGTCCCATACGCTGCGGTTCTGGGGAACCCCTGCCTGGCCCAGCTCTGTGCATGGAGGGTAGGGCCCCACTGGGCCTGAGGAGGGCAGGCCTTGAAGCAGGGTGGGCCCCTCCAGGACCGCTGTCCCCACAGGCCCGACCACCACTTCCTGGAAGCCATCTGCTGCTTCCCCATGGTCTACTACATGGAGGGCTCTGTGGACAAGTAAGGCGTGGCCGGCCGAGGCTCGTGGGGGCTCCACACCCACCCCTCCCCTCCTCTTCCAAAGTCTGGGGTGACCCCGACCGCAGGTGGGGTGGGGGGCTGAGGTCCTCCTGCCTTCTGACCAAATCCCGGGGTCCTGTGGGTGGGGAGTGGGCCGCATCCTCAGCCACGGGCCCTCGGTCCCGCCACCAGCCTGGACAGCCTGCTGCAGTGTGGCATCATCTATGCGGACAACCTGGTGGTGGTGGACAAGGAGAGCACCATGAGCGCCGAGGAGGACTACATGGCGGACGCCAAGACCATCGTCAACGTGCAGACCATGTTCCGGTGCGTCCAGTGTCCGGGGCTCGGCTCTAAACCACCCCACAGCCACGACCACGGGCCCTCGCCCTGAGACCCCCACAGCCACGACCACGGGCCCTCGCCCTGAGACCCCCACAGCCACGACCACGGGCCCTCGCCCTGAGACCGCCACAGCCACGACCACGGGCCCTCGCCCTGAGACCCCCACAGCTATGACCACAAGCCCCCACCCTGAAACCCCCACAACCACAGCCATGGGACCACACCCTGAGACCCCCACAGCCATGGACTCTGCCCAGAGACCCCCACAGCCACGACCACAAGCCCTCCACCCTGAGAGTCCCACAGCCATGACCATGGGCCTCTGCCCTGAGACCCCCCACAGCCGTGGGACCCTGCCCTGAGACCCCCATAGCCAAGACAGTGGGCCCTGCCCTGAGACCCCCCCACAGCCATGGGACCCCGCCCTGAGACCCCCACAGCCACATGATCATGGGCCCCCACCCTGAGACCTCCTACAACCACCATGGGCCCCGCCCTGAGCCGCCTGCCTCCCCCAGGCTCTTCCCCAGCCTCAGCATCACCACGGAGCTCACCCACCCTTCCAACATGCGCTTCATGCAGTTCCGCGCCAAGGACAGCTACTCTCTGGCTCTTTCCAAACTAGAAAAGGTGAGCAGCCCTGCCCCGTGCCAGCTGCCACCCCAGAATCCCAGAAAGAGTGGGAGAAAGGGGCTCAGGGGAAAGGGGGCCAGTGCCATGGGAGGCTGGGCTCCTGCCGCCCTCCTGCTGGGGAACTCAGGAGATGGCGTGGGGGGCCCAGCATGGACAGGGTGCTCTTGATGGTGGAACCAGGAGATGGAGGCAGGGCGTTTCCCTGACCGCGTGTGAGGCACTGGGAATGTGGCCCATAGCAGCCTTCCATCTCCCTGAGCAGGGACCAGGCCTGGCCGTATCTGGAGGCCAAGGCCATCTGTCCTGGCATGGTCAGTTGGTCAGAACTCCCGTGGGGAGCCCTCAGATCGGTGGTTCCACATAGGTTGGCCAGTAGCTCTTAGTACAGATAACGCACACGGCTGCACCATTCCAGACTTCTCCGCTGCCCTGGCCACTACGCCCGACCTTGAAACAGGTTCAGTATAACCACTGCCTCCTTGTATTGACAAGGGACGGAGGGCCTGAGAGGGAAGGGGCCTGCCCCGGATCGCACAGTGGAGCAAGTGGCTGAGCTGGAATTGGCTTTCTGCCCTTGGAGCTCCATGAAGGGCACCACCCAGGGTCAGGTGTGGAACCCAGGGGCACGGGCACTGTTGCTGTTGCCTTGATATCTGGCTGACCCCAGCCCCACCGCATTCCCCACCTGCTCAAGCTGGGACAGCACCACCTTGTCCACACGGGGGCTGGTGCCCAGGCAGCCCTAGGCTGAGAGCAGGGAGCAGGCACCTTGGTCAGCAGCAATGCTGTCTGCTCTACACGAACCCCGAGCTCACCGGTCTGGGCTGAAGTCCTCATCGGCGAGCTGCTGGGACCTGCGTGGCTGCAGGATTGTGACACCGTGGAGGATCTACTGAGCCAGGCCCGGCCTGGCCACCAACACCAGGCAGAGGACACACACGGGCACTCCCTGCGACACGGACATGGCTTTGTCCCACCTGAACCCGATGGAGAGTGAAAGTGTGTTCCGGCCAGCCGTGGACCAAGAGCCCATAGGGATCCTGGAGTCAGTTCTGCCCCAGAGAAGCGAGAGGAGGCCGGGCTGGGCAGCCACCAGGTCAACAGGGGCTTCTGCCTTAGAGATGCCAGCCTGAGGCGTAGGGGGATGCTCGGGCACCTGGTCTCAGCACAGGAGAGGGCTCTGTCTGCCCTGCCCGCCGCCCAAGCCCACCCTGGAGCCTGCCCTGCCCAGCGTCGGGAGCTCCTGGCCCCAGTCCCCGGCTCAGCCGGCAGAGGGGTGTGCTCTGCAGCTGGAACCACGGAAGGGGAGGAAGTTCACAGGATTCTGTGTTCGGGTGCCGGGCCGCTCCCCAGG
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CTTGACAGATCGTTATTGATTCTGATGCTCGGACCCCCTCAGTTCACTGGGTGGGGTGGGGGCCTTCAAGCGGCTTCTGGGTGCTTCTGACACGATCCCCTCACCCTTTGAGCTCATCTGTGCTTTCCAACCGGAGATGTTCCAGCCACATCTTGGCCTTCGCCTGCTCCAGTCTGGAATGAACCACTTCTCCAAGGAACCCTGATTCCTTTTAGTGGAAAATGATGATTGGAAACCAAGACCTGGGCACGTGGCGTGCTCACTGCTGTTGGCATCCCTGCTCTGAGAAAACGTGTGTGCATACACATGACACGTATCTATGCCCACACCTAGATCTCTAGCCACATGCCAAAACCACATGTTCACATGGACACCGCCCTTTCCACCCCTGACATGACTGCTCTGTGCCGCCTGTGGGTACAGCTGTGGCATCTGGTGGTGCCTGTAGCTCCCCACAGGCGTGTGCAGGCCGTGAAAGGGCTGTGGGCCGAGAGGCTAACGGCTGGGTGTTCACGGGGGATGTTTGGTGAGGGGTCTGGGAGGGCTCCAGTGGCCAGCAGGAACCACAGCCCTGACTCCAGCCCTGACTCCAGCATCTGCCCCCAGGGCTGCAAGCACAACAGCTATGAAGACGCCAAGGCCTACGGGTTCAAGAACAAGCTGATCATCGTCTCGGCAGAGACGGCCGGCAATGGGCTGTACAACTTCATCGTGCCACTGCGGGCCTACTACAGATCCCGCAAGGAGCTGAACCCCATCGTGCTGCTGCTGGACAACAAGTGAGGCTCCTGGGGCTCAGCCCACCCCGCCCACCCGGGCCCTCAGACCTGCAGCCAGCAGCCTCCCCAACTGGGCCCACCCTTCGCCTTTGCAGAGGGCACGGGAACATGGGGCCTCTGGCCTGGTCCTCTCAGCTTTCCTAAAAAGGGGGACTCTCCTTCCTGCTCCCAACTCCTCCTGCTCCCAGCTCCTCCCCACACCCACTCCTGCTCCCAGCTCCTCCCCACCCCCAGCTCCTCTGGCTCCTGGGTCCTCCCTGCTCCCTGTTCCCCCAGTTCCCAGCTCCACCCAACTCCCAGCTCCTCCTTGCTTCCAGCTCCCCCAGTTCCCAGCTACTCTCCATTCCCAGCTCCTCCCCACTCCCAGCTTCTCCCCACTCCCAGTTCCCCCTCACTCCCAGCTCCTCCCTGCTCCCAGTTCCTCTGGCCACCAGCTCCTCCCCACTCCCAGTTCCTCTGTCTCCCAGCTCCTCCATGCTCTCAGCTCCTGTGGCTCCCAGCTCCTCCCACTCTGGTCCTCTCTCCCCCTTTCCCCCTCCTCCCTTGTCACTCCTTCTGTCCTGTTTGCCTCCTGCTCCACTCACTCTGAGCCCCAGGATTGGGGTGGAGGGATAAATGGCTCTTCCTCCTGGGCACCTTTTTGCCCAGGGGACCCTAGGACCCTGACAGCTGAGCCCAGGGTCATCTTGGCTGTGTGACCTCAGCAGGTCCCACCCTCCCGGGCCTTGGTTTCCCCTTGAATAAAATAAAGAATGGCCCACTGGCCTTAAAGTACTCCCCAGGTCCCATACGCTGCGGTTCTGGGGAACCCCTGCCTGGCCCAGCTCTGTGCATGGAGGGTAGGGCCCCACTGGGCCTGAGGAGGGCAGGCCTTGAAGCAGGGTGGGCCCCTCCAGGACCGCTGTCCCCACAGGCCCGACCACCACTTCCTGGAAGCCATCTGCTGCTTCCCCATGGTCTACTACATGGAGGGCTCTGTGGACAAGTAAGGCGTGGCCGGCCGAGGCTCGTGGGGGCTCCACACCCACCCCTCCCCTCCTCTTCCAAAGTCTGGGGTGACCCCGACCGCAGGTGGGGTGGGGGGCTGAGGTCCTCCTGCCTTCTGACCAAATCCCGGGGTCCTGTGGGTGGGGAGTGGGCCGCATCCTCAGCCACGGGCCCTCGGTCCCGCCACCAGCCTGGACAGCCTGCTGCAGTGTGGCATCATCTATGCGGACAACCTGGTGGTGGTGGACAAGGAGAGCACCATGAGCGCCGAGGAGGACTACAGGGCGGACGCCAAGACCATCGTCAACGTGCAGACCATGTTCCGGTGCGTCCAGTGTCCGGGGCTCGGCTCTAAACCACCCCACAGCCACGACCACGGGCCCTCGCCCTGAGACCCCCACAGCCACGACCACGGGCCCTCGCCCTGAGACCCCCACAGCCACGACCACGGGCCCTCGCCCTGAGACCGCCACAGCCACGACCACGGGCCCTCGCCCTGAGACCCCCACAGCTATGACCACAAGCCCCCACCCTGAAACCCCCACAACCACAGCCATGGGACCACACCCTGAGACCCCCACAGCCATGGACTCTGCCCAGAGACCCCCACAGCCACGACCACAAGCCCTCCACCCTGAGAGTCCCACAGCCATGACCATGGGCCTCTGCCCTGAGACCCCCCACAGCCGTGGGACCCTGCCCTGAGACCCCCATAGCCAAGACAGTGGGCCCTGCCCTGAGACCCCCCCACAGCCATGGGACCCCGCCCTGAGACCCCCACAGCCACATGATCATGGGCCCCCACCCTGAGACCTCCTACAACCACCATGGGCCCCGCCCTGAGCCGCCTGCCTCCCCCAGGCTCTTCCCCAGCCTCAGCATCACCACGGAGCTCACCCACCCTTCCAACATGCGCTTCATGCAGTTCCGCGCCAAGGACAGCTACTCTCTGGCTCTTTCCAAACTAGAAAAGGTGAGCAGCCCTGCCCCGTGCCAGCTGCCACCCCAGAATCCCAGAAAGAGTGGGAGAAAGGGGCTCAGGGGAAAGGGGGCCAGTGCCATGGGAGGCTGGGCTCCTGCCGCCCTCCTGCTGGGGAACTCAGGAGATGGCGTGGGGGGCCCAGCATGGACAGGGTGCTCTTGATGGTGGAACCAGGAGATGGAGGCAGGGCGTTTCCCTGACCGCGTGTGAGGCACTGGGAATGTGGCCCATAGCAGCCTTCCATCTCCCTGAGCAGGGACCAGGCCTGGCCGTATCTGGAGGCCAAGGCCATCTGTCCTGGCATGGTCAGTTGGTCAGAACTCCCGTGGGGAGCCCTCAGATCGGTGGTTCCACATAGGTTGGCCAGTAGCTCTTAGTACAGATAACGCACACGGCTGCACCATTCCAGACTTCTCCGCTGCCCTGGCCACTACGCCCGACCTTGAAACAGGTTCAGTATAACCACTGCCTCCTTGTATTGACAAGGGACGGAGGGCCTGAGAGGGAAGGGGCCTGCCCCGGATCGCACAGTGGAGCAAGTGGCTGAGCTGGAATTGGCTTTCTGCCCTTGGAGCTCCATGAAGGGCACCACCCAGGGTCAGGTGTGGAACCCAGGGGCACGGGCACTGTTGCTGTTGCCTTGATATCTGGCTGACCCCAGCCCCACCGCATTCCCCACCTGCTCAAGCTGGGACAGCACCACCTTGTCCACACGGGGGCTGGTGCCCAGGCAGCCCTAGGCTGAGAGCAGGGAGCAGGCACCTTGGTCAGCAGCAATGCTGTCTGCTCTACACGAACCCCGAGCTCACCGGTCTGGGCTGAAGTCCTCATCGGCGAGCTGCTGGGACCTGCGTGGCTGCAGGATTGTGACACCGTGGAGGATCTACTGAGCCAGGCCCGGCCTGGCCACCAACACCAGGCAGAGGACACACACGGGCACTCCCTGCGACACGGACATGGCTTTGTCCCACCTGAACCCGATGGAGAGTGAAAGTGTGTTCCGGCCAGCCGTGGACCAAGAGCCCATAGGGATCCTGGAGTCAGTTCTGCCCCAGAGAAGCGAGAGGAGGCCGGGCTGGGCAGCCACCAGGTCAACAGGGGCTTCTGCCTTAGAGATGCCAGCCTGAGGCGTAGGGGGATGCTCGGGCACCTGGTCTCAGCACAGGAGAGGGCTCTGTCTGCCCTGCCCGCCGCCCAAGCCCACCCTGGAGCCTGCCCTGCCCAGCGTCGGGAGCTCCTGGCCCCAGTCCCCGGCTCAGCCGGCAGAGGGGTGTGCTCTGCAGCTGGAACCACGGAAGGGGAGGAAGTTCACAGGATTCTGTGTTCGGGTGCCGGGCCGCTCCCCAGG
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Task1_train_13495
|
A variant found in Chromosome 9 affects KCNT1 (potassium sodium-activated channel subfamily T member 1). Please analyze its biological impact: is it benign or pathogenic, and what condition might it cause?
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Pathogenic; Autosomal dominant nocturnal frontal lobe epilepsy 5
|
TTGACAGATCGTTATTGATTCTGATGCTCGGACCCCCTCAGTTCACTGGGTGGGGTGGGGGCCTTCAAGCGGCTTCTGGGTGCTTCTGACACGATCCCCTCACCCTTTGAGCTCATCTGTGCTTTCCAACCGGAGATGTTCCAGCCACATCTTGGCCTTCGCCTGCTCCAGTCTGGAATGAACCACTTCTCCAAGGAACCCTGATTCCTTTTAGTGGAAAATGATGATTGGAAACCAAGACCTGGGCACGTGGCGTGCTCACTGCTGTTGGCATCCCTGCTCTGAGAAAACGTGTGTGCATACACATGACACGTATCTATGCCCACACCTAGATCTCTAGCCACATGCCAAAACCACATGTTCACATGGACACCGCCCTTTCCACCCCTGACATGACTGCTCTGTGCCGCCTGTGGGTACAGCTGTGGCATCTGGTGGTGCCTGTAGCTCCCCACAGGCGTGTGCAGGCCGTGAAAGGGCTGTGGGCCGAGAGGCTAACGGCTGGGTGTTCACGGGGGATGTTTGGTGAGGGGTCTGGGAGGGCTCCAGTGGCCAGCAGGAACCACAGCCCTGACTCCAGCCCTGACTCCAGCATCTGCCCCCAGGGCTGCAAGCACAACAGCTATGAAGACGCCAAGGCCTACGGGTTCAAGAACAAGCTGATCATCGTCTCGGCAGAGACGGCCGGCAATGGGCTGTACAACTTCATCGTGCCACTGCGGGCCTACTACAGATCCCGCAAGGAGCTGAACCCCATCGTGCTGCTGCTGGACAACAAGTGAGGCTCCTGGGGCTCAGCCCACCCCGCCCACCCGGGCCCTCAGACCTGCAGCCAGCAGCCTCCCCAACTGGGCCCACCCTTCGCCTTTGCAGAGGGCACGGGAACATGGGGCCTCTGGCCTGGTCCTCTCAGCTTTCCTAAAAAGGGGGACTCTCCTTCCTGCTCCCAACTCCTCCTGCTCCCAGCTCCTCCCCACACCCACTCCTGCTCCCAGCTCCTCCCCACCCCCAGCTCCTCTGGCTCCTGGGTCCTCCCTGCTCCCTGTTCCCCCAGTTCCCAGCTCCACCCAACTCCCAGCTCCTCCTTGCTTCCAGCTCCCCCAGTTCCCAGCTACTCTCCATTCCCAGCTCCTCCCCACTCCCAGCTTCTCCCCACTCCCAGTTCCCCCTCACTCCCAGCTCCTCCCTGCTCCCAGTTCCTCTGGCCACCAGCTCCTCCCCACTCCCAGTTCCTCTGTCTCCCAGCTCCTCCATGCTCTCAGCTCCTGTGGCTCCCAGCTCCTCCCACTCTGGTCCTCTCTCCCCCTTTCCCCCTCCTCCCTTGTCACTCCTTCTGTCCTGTTTGCCTCCTGCTCCACTCACTCTGAGCCCCAGGATTGGGGTGGAGGGATAAATGGCTCTTCCTCCTGGGCACCTTTTTGCCCAGGGGACCCTAGGACCCTGACAGCTGAGCCCAGGGTCATCTTGGCTGTGTGACCTCAGCAGGTCCCACCCTCCCGGGCCTTGGTTTCCCCTTGAATAAAATAAAGAATGGCCCACTGGCCTTAAAGTACTCCCCAGGTCCCATACGCTGCGGTTCTGGGGAACCCCTGCCTGGCCCAGCTCTGTGCATGGAGGGTAGGGCCCCACTGGGCCTGAGGAGGGCAGGCCTTGAAGCAGGGTGGGCCCCTCCAGGACCGCTGTCCCCACAGGCCCGACCACCACTTCCTGGAAGCCATCTGCTGCTTCCCCATGGTCTACTACATGGAGGGCTCTGTGGACAAGTAAGGCGTGGCCGGCCGAGGCTCGTGGGGGCTCCACACCCACCCCTCCCCTCCTCTTCCAAAGTCTGGGGTGACCCCGACCGCAGGTGGGGTGGGGGGCTGAGGTCCTCCTGCCTTCTGACCAAATCCCGGGGTCCTGTGGGTGGGGAGTGGGCCGCATCCTCAGCCACGGGCCCTCGGTCCCGCCACCAGCCTGGACAGCCTGCTGCAGTGTGGCATCATCTATGCGGACAACCTGGTGGTGGTGGACAAGGAGAGCACCATGAGCGCCGAGGAGGACTACATGGCGGACGCCAAGACCATCGTCAACGTGCAGACCATGTTCCGGTGCGTCCAGTGTCCGGGGCTCGGCTCTAAACCACCCCACAGCCACGACCACGGGCCCTCGCCCTGAGACCCCCACAGCCACGACCACGGGCCCTCGCCCTGAGACCCCCACAGCCACGACCACGGGCCCTCGCCCTGAGACCGCCACAGCCACGACCACGGGCCCTCGCCCTGAGACCCCCACAGCTATGACCACAAGCCCCCACCCTGAAACCCCCACAACCACAGCCATGGGACCACACCCTGAGACCCCCACAGCCATGGACTCTGCCCAGAGACCCCCACAGCCACGACCACAAGCCCTCCACCCTGAGAGTCCCACAGCCATGACCATGGGCCTCTGCCCTGAGACCCCCCACAGCCGTGGGACCCTGCCCTGAGACCCCCATAGCCAAGACAGTGGGCCCTGCCCTGAGACCCCCCCACAGCCATGGGACCCCGCCCTGAGACCCCCACAGCCACATGATCATGGGCCCCCACCCTGAGACCTCCTACAACCACCATGGGCCCCGCCCTGAGCCGCCTGCCTCCCCCAGGCTCTTCCCCAGCCTCAGCATCACCACGGAGCTCACCCACCCTTCCAACATGCGCTTCATGCAGTTCCGCGCCAAGGACAGCTACTCTCTGGCTCTTTCCAAACTAGAAAAGGTGAGCAGCCCTGCCCCGTGCCAGCTGCCACCCCAGAATCCCAGAAAGAGTGGGAGAAAGGGGCTCAGGGGAAAGGGGGCCAGTGCCATGGGAGGCTGGGCTCCTGCCGCCCTCCTGCTGGGGAACTCAGGAGATGGCGTGGGGGGCCCAGCATGGACAGGGTGCTCTTGATGGTGGAACCAGGAGATGGAGGCAGGGCGTTTCCCTGACCGCGTGTGAGGCACTGGGAATGTGGCCCATAGCAGCCTTCCATCTCCCTGAGCAGGGACCAGGCCTGGCCGTATCTGGAGGCCAAGGCCATCTGTCCTGGCATGGTCAGTTGGTCAGAACTCCCGTGGGGAGCCCTCAGATCGGTGGTTCCACATAGGTTGGCCAGTAGCTCTTAGTACAGATAACGCACACGGCTGCACCATTCCAGACTTCTCCGCTGCCCTGGCCACTACGCCCGACCTTGAAACAGGTTCAGTATAACCACTGCCTCCTTGTATTGACAAGGGACGGAGGGCCTGAGAGGGAAGGGGCCTGCCCCGGATCGCACAGTGGAGCAAGTGGCTGAGCTGGAATTGGCTTTCTGCCCTTGGAGCTCCATGAAGGGCACCACCCAGGGTCAGGTGTGGAACCCAGGGGCACGGGCACTGTTGCTGTTGCCTTGATATCTGGCTGACCCCAGCCCCACCGCATTCCCCACCTGCTCAAGCTGGGACAGCACCACCTTGTCCACACGGGGGCTGGTGCCCAGGCAGCCCTAGGCTGAGAGCAGGGAGCAGGCACCTTGGTCAGCAGCAATGCTGTCTGCTCTACACGAACCCCGAGCTCACCGGTCTGGGCTGAAGTCCTCATCGGCGAGCTGCTGGGACCTGCGTGGCTGCAGGATTGTGACACCGTGGAGGATCTACTGAGCCAGGCCCGGCCTGGCCACCAACACCAGGCAGAGGACACACACGGGCACTCCCTGCGACACGGACATGGCTTTGTCCCACCTGAACCCGATGGAGAGTGAAAGTGTGTTCCGGCCAGCCGTGGACCAAGAGCCCATAGGGATCCTGGAGTCAGTTCTGCCCCAGAGAAGCGAGAGGAGGCCGGGCTGGGCAGCCACCAGGTCAACAGGGGCTTCTGCCTTAGAGATGCCAGCCTGAGGCGTAGGGGGATGCTCGGGCACCTGGTCTCAGCACAGGAGAGGGCTCTGTCTGCCCTGCCCGCCGCCCAAGCCCACCCTGGAGCCTGCCCTGCCCAGCGTCGGGAGCTCCTGGCCCCAGTCCCCGGCTCAGCCGGCAGAGGGGTGTGCTCTGCAGCTGGAACCACGGAAGGGGAGGAAGTTCACAGGATTCTGTGTTCGGGTGCCGGGCCGCTCCCCAGGG
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TTGACAGATCGTTATTGATTCTGATGCTCGGACCCCCTCAGTTCACTGGGTGGGGTGGGGGCCTTCAAGCGGCTTCTGGGTGCTTCTGACACGATCCCCTCACCCTTTGAGCTCATCTGTGCTTTCCAACCGGAGATGTTCCAGCCACATCTTGGCCTTCGCCTGCTCCAGTCTGGAATGAACCACTTCTCCAAGGAACCCTGATTCCTTTTAGTGGAAAATGATGATTGGAAACCAAGACCTGGGCACGTGGCGTGCTCACTGCTGTTGGCATCCCTGCTCTGAGAAAACGTGTGTGCATACACATGACACGTATCTATGCCCACACCTAGATCTCTAGCCACATGCCAAAACCACATGTTCACATGGACACCGCCCTTTCCACCCCTGACATGACTGCTCTGTGCCGCCTGTGGGTACAGCTGTGGCATCTGGTGGTGCCTGTAGCTCCCCACAGGCGTGTGCAGGCCGTGAAAGGGCTGTGGGCCGAGAGGCTAACGGCTGGGTGTTCACGGGGGATGTTTGGTGAGGGGTCTGGGAGGGCTCCAGTGGCCAGCAGGAACCACAGCCCTGACTCCAGCCCTGACTCCAGCATCTGCCCCCAGGGCTGCAAGCACAACAGCTATGAAGACGCCAAGGCCTACGGGTTCAAGAACAAGCTGATCATCGTCTCGGCAGAGACGGCCGGCAATGGGCTGTACAACTTCATCGTGCCACTGCGGGCCTACTACAGATCCCGCAAGGAGCTGAACCCCATCGTGCTGCTGCTGGACAACAAGTGAGGCTCCTGGGGCTCAGCCCACCCCGCCCACCCGGGCCCTCAGACCTGCAGCCAGCAGCCTCCCCAACTGGGCCCACCCTTCGCCTTTGCAGAGGGCACGGGAACATGGGGCCTCTGGCCTGGTCCTCTCAGCTTTCCTAAAAAGGGGGACTCTCCTTCCTGCTCCCAACTCCTCCTGCTCCCAGCTCCTCCCCACACCCACTCCTGCTCCCAGCTCCTCCCCACCCCCAGCTCCTCTGGCTCCTGGGTCCTCCCTGCTCCCTGTTCCCCCAGTTCCCAGCTCCACCCAACTCCCAGCTCCTCCTTGCTTCCAGCTCCCCCAGTTCCCAGCTACTCTCCATTCCCAGCTCCTCCCCACTCCCAGCTTCTCCCCACTCCCAGTTCCCCCTCACTCCCAGCTCCTCCCTGCTCCCAGTTCCTCTGGCCACCAGCTCCTCCCCACTCCCAGTTCCTCTGTCTCCCAGCTCCTCCATGCTCTCAGCTCCTGTGGCTCCCAGCTCCTCCCACTCTGGTCCTCTCTCCCCCTTTCCCCCTCCTCCCTTGTCACTCCTTCTGTCCTGTTTGCCTCCTGCTCCACTCACTCTGAGCCCCAGGATTGGGGTGGAGGGATAAATGGCTCTTCCTCCTGGGCACCTTTTTGCCCAGGGGACCCTAGGACCCTGACAGCTGAGCCCAGGGTCATCTTGGCTGTGTGACCTCAGCAGGTCCCACCCTCCCGGGCCTTGGTTTCCCCTTGAATAAAATAAAGAATGGCCCACTGGCCTTAAAGTACTCCCCAGGTCCCATACGCTGCGGTTCTGGGGAACCCCTGCCTGGCCCAGCTCTGTGCATGGAGGGTAGGGCCCCACTGGGCCTGAGGAGGGCAGGCCTTGAAGCAGGGTGGGCCCCTCCAGGACCGCTGTCCCCACAGGCCCGACCACCACTTCCTGGAAGCCATCTGCTGCTTCCCCATGGTCTACTACATGGAGGGCTCTGTGGACAAGTAAGGCGTGGCCGGCCGAGGCTCGTGGGGGCTCCACACCCACCCCTCCCCTCCTCTTCCAAAGTCTGGGGTGACCCCGACCGCAGGTGGGGTGGGGGGCTGAGGTCCTCCTGCCTTCTGACCAAATCCCGGGGTCCTGTGGGTGGGGAGTGGGCCGCATCCTCAGCCACGGGCCCTCGGTCCCGCCACCAGCCTGGACAGCCTGCTGCAGTGTGGCATCATCTATGCGGACAACCTGGTGGTGGTGGACAAGGAGAGCACCATGAGCGCCGAGGAGGACTACATAGCGGACGCCAAGACCATCGTCAACGTGCAGACCATGTTCCGGTGCGTCCAGTGTCCGGGGCTCGGCTCTAAACCACCCCACAGCCACGACCACGGGCCCTCGCCCTGAGACCCCCACAGCCACGACCACGGGCCCTCGCCCTGAGACCCCCACAGCCACGACCACGGGCCCTCGCCCTGAGACCGCCACAGCCACGACCACGGGCCCTCGCCCTGAGACCCCCACAGCTATGACCACAAGCCCCCACCCTGAAACCCCCACAACCACAGCCATGGGACCACACCCTGAGACCCCCACAGCCATGGACTCTGCCCAGAGACCCCCACAGCCACGACCACAAGCCCTCCACCCTGAGAGTCCCACAGCCATGACCATGGGCCTCTGCCCTGAGACCCCCCACAGCCGTGGGACCCTGCCCTGAGACCCCCATAGCCAAGACAGTGGGCCCTGCCCTGAGACCCCCCCACAGCCATGGGACCCCGCCCTGAGACCCCCACAGCCACATGATCATGGGCCCCCACCCTGAGACCTCCTACAACCACCATGGGCCCCGCCCTGAGCCGCCTGCCTCCCCCAGGCTCTTCCCCAGCCTCAGCATCACCACGGAGCTCACCCACCCTTCCAACATGCGCTTCATGCAGTTCCGCGCCAAGGACAGCTACTCTCTGGCTCTTTCCAAACTAGAAAAGGTGAGCAGCCCTGCCCCGTGCCAGCTGCCACCCCAGAATCCCAGAAAGAGTGGGAGAAAGGGGCTCAGGGGAAAGGGGGCCAGTGCCATGGGAGGCTGGGCTCCTGCCGCCCTCCTGCTGGGGAACTCAGGAGATGGCGTGGGGGGCCCAGCATGGACAGGGTGCTCTTGATGGTGGAACCAGGAGATGGAGGCAGGGCGTTTCCCTGACCGCGTGTGAGGCACTGGGAATGTGGCCCATAGCAGCCTTCCATCTCCCTGAGCAGGGACCAGGCCTGGCCGTATCTGGAGGCCAAGGCCATCTGTCCTGGCATGGTCAGTTGGTCAGAACTCCCGTGGGGAGCCCTCAGATCGGTGGTTCCACATAGGTTGGCCAGTAGCTCTTAGTACAGATAACGCACACGGCTGCACCATTCCAGACTTCTCCGCTGCCCTGGCCACTACGCCCGACCTTGAAACAGGTTCAGTATAACCACTGCCTCCTTGTATTGACAAGGGACGGAGGGCCTGAGAGGGAAGGGGCCTGCCCCGGATCGCACAGTGGAGCAAGTGGCTGAGCTGGAATTGGCTTTCTGCCCTTGGAGCTCCATGAAGGGCACCACCCAGGGTCAGGTGTGGAACCCAGGGGCACGGGCACTGTTGCTGTTGCCTTGATATCTGGCTGACCCCAGCCCCACCGCATTCCCCACCTGCTCAAGCTGGGACAGCACCACCTTGTCCACACGGGGGCTGGTGCCCAGGCAGCCCTAGGCTGAGAGCAGGGAGCAGGCACCTTGGTCAGCAGCAATGCTGTCTGCTCTACACGAACCCCGAGCTCACCGGTCTGGGCTGAAGTCCTCATCGGCGAGCTGCTGGGACCTGCGTGGCTGCAGGATTGTGACACCGTGGAGGATCTACTGAGCCAGGCCCGGCCTGGCCACCAACACCAGGCAGAGGACACACACGGGCACTCCCTGCGACACGGACATGGCTTTGTCCCACCTGAACCCGATGGAGAGTGAAAGTGTGTTCCGGCCAGCCGTGGACCAAGAGCCCATAGGGATCCTGGAGTCAGTTCTGCCCCAGAGAAGCGAGAGGAGGCCGGGCTGGGCAGCCACCAGGTCAACAGGGGCTTCTGCCTTAGAGATGCCAGCCTGAGGCGTAGGGGGATGCTCGGGCACCTGGTCTCAGCACAGGAGAGGGCTCTGTCTGCCCTGCCCGCCGCCCAAGCCCACCCTGGAGCCTGCCCTGCCCAGCGTCGGGAGCTCCTGGCCCCAGTCCCCGGCTCAGCCGGCAGAGGGGTGTGCTCTGCAGCTGGAACCACGGAAGGGGAGGAAGTTCACAGGATTCTGTGTTCGGGTGCCGGGCCGCTCCCCAGGG
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Task1_train_13496
|
An alteration has been detected in KCNT1 (potassium sodium-activated channel subfamily T member 1) on Chromosome 9. Is it pathogenic, and if so, what disease is involved?
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Pathogenic; not provided
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TTGACAGATCGTTATTGATTCTGATGCTCGGACCCCCTCAGTTCACTGGGTGGGGTGGGGGCCTTCAAGCGGCTTCTGGGTGCTTCTGACACGATCCCCTCACCCTTTGAGCTCATCTGTGCTTTCCAACCGGAGATGTTCCAGCCACATCTTGGCCTTCGCCTGCTCCAGTCTGGAATGAACCACTTCTCCAAGGAACCCTGATTCCTTTTAGTGGAAAATGATGATTGGAAACCAAGACCTGGGCACGTGGCGTGCTCACTGCTGTTGGCATCCCTGCTCTGAGAAAACGTGTGTGCATACACATGACACGTATCTATGCCCACACCTAGATCTCTAGCCACATGCCAAAACCACATGTTCACATGGACACCGCCCTTTCCACCCCTGACATGACTGCTCTGTGCCGCCTGTGGGTACAGCTGTGGCATCTGGTGGTGCCTGTAGCTCCCCACAGGCGTGTGCAGGCCGTGAAAGGGCTGTGGGCCGAGAGGCTAACGGCTGGGTGTTCACGGGGGATGTTTGGTGAGGGGTCTGGGAGGGCTCCAGTGGCCAGCAGGAACCACAGCCCTGACTCCAGCCCTGACTCCAGCATCTGCCCCCAGGGCTGCAAGCACAACAGCTATGAAGACGCCAAGGCCTACGGGTTCAAGAACAAGCTGATCATCGTCTCGGCAGAGACGGCCGGCAATGGGCTGTACAACTTCATCGTGCCACTGCGGGCCTACTACAGATCCCGCAAGGAGCTGAACCCCATCGTGCTGCTGCTGGACAACAAGTGAGGCTCCTGGGGCTCAGCCCACCCCGCCCACCCGGGCCCTCAGACCTGCAGCCAGCAGCCTCCCCAACTGGGCCCACCCTTCGCCTTTGCAGAGGGCACGGGAACATGGGGCCTCTGGCCTGGTCCTCTCAGCTTTCCTAAAAAGGGGGACTCTCCTTCCTGCTCCCAACTCCTCCTGCTCCCAGCTCCTCCCCACACCCACTCCTGCTCCCAGCTCCTCCCCACCCCCAGCTCCTCTGGCTCCTGGGTCCTCCCTGCTCCCTGTTCCCCCAGTTCCCAGCTCCACCCAACTCCCAGCTCCTCCTTGCTTCCAGCTCCCCCAGTTCCCAGCTACTCTCCATTCCCAGCTCCTCCCCACTCCCAGCTTCTCCCCACTCCCAGTTCCCCCTCACTCCCAGCTCCTCCCTGCTCCCAGTTCCTCTGGCCACCAGCTCCTCCCCACTCCCAGTTCCTCTGTCTCCCAGCTCCTCCATGCTCTCAGCTCCTGTGGCTCCCAGCTCCTCCCACTCTGGTCCTCTCTCCCCCTTTCCCCCTCCTCCCTTGTCACTCCTTCTGTCCTGTTTGCCTCCTGCTCCACTCACTCTGAGCCCCAGGATTGGGGTGGAGGGATAAATGGCTCTTCCTCCTGGGCACCTTTTTGCCCAGGGGACCCTAGGACCCTGACAGCTGAGCCCAGGGTCATCTTGGCTGTGTGACCTCAGCAGGTCCCACCCTCCCGGGCCTTGGTTTCCCCTTGAATAAAATAAAGAATGGCCCACTGGCCTTAAAGTACTCCCCAGGTCCCATACGCTGCGGTTCTGGGGAACCCCTGCCTGGCCCAGCTCTGTGCATGGAGGGTAGGGCCCCACTGGGCCTGAGGAGGGCAGGCCTTGAAGCAGGGTGGGCCCCTCCAGGACCGCTGTCCCCACAGGCCCGACCACCACTTCCTGGAAGCCATCTGCTGCTTCCCCATGGTCTACTACATGGAGGGCTCTGTGGACAAGTAAGGCGTGGCCGGCCGAGGCTCGTGGGGGCTCCACACCCACCCCTCCCCTCCTCTTCCAAAGTCTGGGGTGACCCCGACCGCAGGTGGGGTGGGGGGCTGAGGTCCTCCTGCCTTCTGACCAAATCCCGGGGTCCTGTGGGTGGGGAGTGGGCCGCATCCTCAGCCACGGGCCCTCGGTCCCGCCACCAGCCTGGACAGCCTGCTGCAGTGTGGCATCATCTATGCGGACAACCTGGTGGTGGTGGACAAGGAGAGCACCATGAGCGCCGAGGAGGACTACATGGCGGACGCCAAGACCATCGTCAACGTGCAGACCATGTTCCGGTGCGTCCAGTGTCCGGGGCTCGGCTCTAAACCACCCCACAGCCACGACCACGGGCCCTCGCCCTGAGACCCCCACAGCCACGACCACGGGCCCTCGCCCTGAGACCCCCACAGCCACGACCACGGGCCCTCGCCCTGAGACCGCCACAGCCACGACCACGGGCCCTCGCCCTGAGACCCCCACAGCTATGACCACAAGCCCCCACCCTGAAACCCCCACAACCACAGCCATGGGACCACACCCTGAGACCCCCACAGCCATGGACTCTGCCCAGAGACCCCCACAGCCACGACCACAAGCCCTCCACCCTGAGAGTCCCACAGCCATGACCATGGGCCTCTGCCCTGAGACCCCCCACAGCCGTGGGACCCTGCCCTGAGACCCCCATAGCCAAGACAGTGGGCCCTGCCCTGAGACCCCCCCACAGCCATGGGACCCCGCCCTGAGACCCCCACAGCCACATGATCATGGGCCCCCACCCTGAGACCTCCTACAACCACCATGGGCCCCGCCCTGAGCCGCCTGCCTCCCCCAGGCTCTTCCCCAGCCTCAGCATCACCACGGAGCTCACCCACCCTTCCAACATGCGCTTCATGCAGTTCCGCGCCAAGGACAGCTACTCTCTGGCTCTTTCCAAACTAGAAAAGGTGAGCAGCCCTGCCCCGTGCCAGCTGCCACCCCAGAATCCCAGAAAGAGTGGGAGAAAGGGGCTCAGGGGAAAGGGGGCCAGTGCCATGGGAGGCTGGGCTCCTGCCGCCCTCCTGCTGGGGAACTCAGGAGATGGCGTGGGGGGCCCAGCATGGACAGGGTGCTCTTGATGGTGGAACCAGGAGATGGAGGCAGGGCGTTTCCCTGACCGCGTGTGAGGCACTGGGAATGTGGCCCATAGCAGCCTTCCATCTCCCTGAGCAGGGACCAGGCCTGGCCGTATCTGGAGGCCAAGGCCATCTGTCCTGGCATGGTCAGTTGGTCAGAACTCCCGTGGGGAGCCCTCAGATCGGTGGTTCCACATAGGTTGGCCAGTAGCTCTTAGTACAGATAACGCACACGGCTGCACCATTCCAGACTTCTCCGCTGCCCTGGCCACTACGCCCGACCTTGAAACAGGTTCAGTATAACCACTGCCTCCTTGTATTGACAAGGGACGGAGGGCCTGAGAGGGAAGGGGCCTGCCCCGGATCGCACAGTGGAGCAAGTGGCTGAGCTGGAATTGGCTTTCTGCCCTTGGAGCTCCATGAAGGGCACCACCCAGGGTCAGGTGTGGAACCCAGGGGCACGGGCACTGTTGCTGTTGCCTTGATATCTGGCTGACCCCAGCCCCACCGCATTCCCCACCTGCTCAAGCTGGGACAGCACCACCTTGTCCACACGGGGGCTGGTGCCCAGGCAGCCCTAGGCTGAGAGCAGGGAGCAGGCACCTTGGTCAGCAGCAATGCTGTCTGCTCTACACGAACCCCGAGCTCACCGGTCTGGGCTGAAGTCCTCATCGGCGAGCTGCTGGGACCTGCGTGGCTGCAGGATTGTGACACCGTGGAGGATCTACTGAGCCAGGCCCGGCCTGGCCACCAACACCAGGCAGAGGACACACACGGGCACTCCCTGCGACACGGACATGGCTTTGTCCCACCTGAACCCGATGGAGAGTGAAAGTGTGTTCCGGCCAGCCGTGGACCAAGAGCCCATAGGGATCCTGGAGTCAGTTCTGCCCCAGAGAAGCGAGAGGAGGCCGGGCTGGGCAGCCACCAGGTCAACAGGGGCTTCTGCCTTAGAGATGCCAGCCTGAGGCGTAGGGGGATGCTCGGGCACCTGGTCTCAGCACAGGAGAGGGCTCTGTCTGCCCTGCCCGCCGCCCAAGCCCACCCTGGAGCCTGCCCTGCCCAGCGTCGGGAGCTCCTGGCCCCAGTCCCCGGCTCAGCCGGCAGAGGGGTGTGCTCTGCAGCTGGAACCACGGAAGGGGAGGAAGTTCACAGGATTCTGTGTTCGGGTGCCGGGCCGCTCCCCAGGG
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TTGACAGATCGTTATTGATTCTGATGCTCGGACCCCCTCAGTTCACTGGGTGGGGTGGGGGCCTTCAAGCGGCTTCTGGGTGCTTCTGACACGATCCCCTCACCCTTTGAGCTCATCTGTGCTTTCCAACCGGAGATGTTCCAGCCACATCTTGGCCTTCGCCTGCTCCAGTCTGGAATGAACCACTTCTCCAAGGAACCCTGATTCCTTTTAGTGGAAAATGATGATTGGAAACCAAGACCTGGGCACGTGGCGTGCTCACTGCTGTTGGCATCCCTGCTCTGAGAAAACGTGTGTGCATACACATGACACGTATCTATGCCCACACCTAGATCTCTAGCCACATGCCAAAACCACATGTTCACATGGACACCGCCCTTTCCACCCCTGACATGACTGCTCTGTGCCGCCTGTGGGTACAGCTGTGGCATCTGGTGGTGCCTGTAGCTCCCCACAGGCGTGTGCAGGCCGTGAAAGGGCTGTGGGCCGAGAGGCTAACGGCTGGGTGTTCACGGGGGATGTTTGGTGAGGGGTCTGGGAGGGCTCCAGTGGCCAGCAGGAACCACAGCCCTGACTCCAGCCCTGACTCCAGCATCTGCCCCCAGGGCTGCAAGCACAACAGCTATGAAGACGCCAAGGCCTACGGGTTCAAGAACAAGCTGATCATCGTCTCGGCAGAGACGGCCGGCAATGGGCTGTACAACTTCATCGTGCCACTGCGGGCCTACTACAGATCCCGCAAGGAGCTGAACCCCATCGTGCTGCTGCTGGACAACAAGTGAGGCTCCTGGGGCTCAGCCCACCCCGCCCACCCGGGCCCTCAGACCTGCAGCCAGCAGCCTCCCCAACTGGGCCCACCCTTCGCCTTTGCAGAGGGCACGGGAACATGGGGCCTCTGGCCTGGTCCTCTCAGCTTTCCTAAAAAGGGGGACTCTCCTTCCTGCTCCCAACTCCTCCTGCTCCCAGCTCCTCCCCACACCCACTCCTGCTCCCAGCTCCTCCCCACCCCCAGCTCCTCTGGCTCCTGGGTCCTCCCTGCTCCCTGTTCCCCCAGTTCCCAGCTCCACCCAACTCCCAGCTCCTCCTTGCTTCCAGCTCCCCCAGTTCCCAGCTACTCTCCATTCCCAGCTCCTCCCCACTCCCAGCTTCTCCCCACTCCCAGTTCCCCCTCACTCCCAGCTCCTCCCTGCTCCCAGTTCCTCTGGCCACCAGCTCCTCCCCACTCCCAGTTCCTCTGTCTCCCAGCTCCTCCATGCTCTCAGCTCCTGTGGCTCCCAGCTCCTCCCACTCTGGTCCTCTCTCCCCCTTTCCCCCTCCTCCCTTGTCACTCCTTCTGTCCTGTTTGCCTCCTGCTCCACTCACTCTGAGCCCCAGGATTGGGGTGGAGGGATAAATGGCTCTTCCTCCTGGGCACCTTTTTGCCCAGGGGACCCTAGGACCCTGACAGCTGAGCCCAGGGTCATCTTGGCTGTGTGACCTCAGCAGGTCCCACCCTCCCGGGCCTTGGTTTCCCCTTGAATAAAATAAAGAATGGCCCACTGGCCTTAAAGTACTCCCCAGGTCCCATACGCTGCGGTTCTGGGGAACCCCTGCCTGGCCCAGCTCTGTGCATGGAGGGTAGGGCCCCACTGGGCCTGAGGAGGGCAGGCCTTGAAGCAGGGTGGGCCCCTCCAGGACCGCTGTCCCCACAGGCCCGACCACCACTTCCTGGAAGCCATCTGCTGCTTCCCCATGGTCTACTACATGGAGGGCTCTGTGGACAAGTAAGGCGTGGCCGGCCGAGGCTCGTGGGGGCTCCACACCCACCCCTCCCCTCCTCTTCCAAAGTCTGGGGTGACCCCGACCGCAGGTGGGGTGGGGGGCTGAGGTCCTCCTGCCTTCTGACCAAATCCCGGGGTCCTGTGGGTGGGGAGTGGGCCGCATCCTCAGCCACGGGCCCTCGGTCCCGCCACCAGCCTGGACAGCCTGCTGCAGTGTGGCATCATCTATGCGGACAACCTGGTGGTGGTGGACAAGGAGAGCACCATGAGCGCCGAGGAGGACTACATCGCGGACGCCAAGACCATCGTCAACGTGCAGACCATGTTCCGGTGCGTCCAGTGTCCGGGGCTCGGCTCTAAACCACCCCACAGCCACGACCACGGGCCCTCGCCCTGAGACCCCCACAGCCACGACCACGGGCCCTCGCCCTGAGACCCCCACAGCCACGACCACGGGCCCTCGCCCTGAGACCGCCACAGCCACGACCACGGGCCCTCGCCCTGAGACCCCCACAGCTATGACCACAAGCCCCCACCCTGAAACCCCCACAACCACAGCCATGGGACCACACCCTGAGACCCCCACAGCCATGGACTCTGCCCAGAGACCCCCACAGCCACGACCACAAGCCCTCCACCCTGAGAGTCCCACAGCCATGACCATGGGCCTCTGCCCTGAGACCCCCCACAGCCGTGGGACCCTGCCCTGAGACCCCCATAGCCAAGACAGTGGGCCCTGCCCTGAGACCCCCCCACAGCCATGGGACCCCGCCCTGAGACCCCCACAGCCACATGATCATGGGCCCCCACCCTGAGACCTCCTACAACCACCATGGGCCCCGCCCTGAGCCGCCTGCCTCCCCCAGGCTCTTCCCCAGCCTCAGCATCACCACGGAGCTCACCCACCCTTCCAACATGCGCTTCATGCAGTTCCGCGCCAAGGACAGCTACTCTCTGGCTCTTTCCAAACTAGAAAAGGTGAGCAGCCCTGCCCCGTGCCAGCTGCCACCCCAGAATCCCAGAAAGAGTGGGAGAAAGGGGCTCAGGGGAAAGGGGGCCAGTGCCATGGGAGGCTGGGCTCCTGCCGCCCTCCTGCTGGGGAACTCAGGAGATGGCGTGGGGGGCCCAGCATGGACAGGGTGCTCTTGATGGTGGAACCAGGAGATGGAGGCAGGGCGTTTCCCTGACCGCGTGTGAGGCACTGGGAATGTGGCCCATAGCAGCCTTCCATCTCCCTGAGCAGGGACCAGGCCTGGCCGTATCTGGAGGCCAAGGCCATCTGTCCTGGCATGGTCAGTTGGTCAGAACTCCCGTGGGGAGCCCTCAGATCGGTGGTTCCACATAGGTTGGCCAGTAGCTCTTAGTACAGATAACGCACACGGCTGCACCATTCCAGACTTCTCCGCTGCCCTGGCCACTACGCCCGACCTTGAAACAGGTTCAGTATAACCACTGCCTCCTTGTATTGACAAGGGACGGAGGGCCTGAGAGGGAAGGGGCCTGCCCCGGATCGCACAGTGGAGCAAGTGGCTGAGCTGGAATTGGCTTTCTGCCCTTGGAGCTCCATGAAGGGCACCACCCAGGGTCAGGTGTGGAACCCAGGGGCACGGGCACTGTTGCTGTTGCCTTGATATCTGGCTGACCCCAGCCCCACCGCATTCCCCACCTGCTCAAGCTGGGACAGCACCACCTTGTCCACACGGGGGCTGGTGCCCAGGCAGCCCTAGGCTGAGAGCAGGGAGCAGGCACCTTGGTCAGCAGCAATGCTGTCTGCTCTACACGAACCCCGAGCTCACCGGTCTGGGCTGAAGTCCTCATCGGCGAGCTGCTGGGACCTGCGTGGCTGCAGGATTGTGACACCGTGGAGGATCTACTGAGCCAGGCCCGGCCTGGCCACCAACACCAGGCAGAGGACACACACGGGCACTCCCTGCGACACGGACATGGCTTTGTCCCACCTGAACCCGATGGAGAGTGAAAGTGTGTTCCGGCCAGCCGTGGACCAAGAGCCCATAGGGATCCTGGAGTCAGTTCTGCCCCAGAGAAGCGAGAGGAGGCCGGGCTGGGCAGCCACCAGGTCAACAGGGGCTTCTGCCTTAGAGATGCCAGCCTGAGGCGTAGGGGGATGCTCGGGCACCTGGTCTCAGCACAGGAGAGGGCTCTGTCTGCCCTGCCCGCCGCCCAAGCCCACCCTGGAGCCTGCCCTGCCCAGCGTCGGGAGCTCCTGGCCCCAGTCCCCGGCTCAGCCGGCAGAGGGGTGTGCTCTGCAGCTGGAACCACGGAAGGGGAGGAAGTTCACAGGATTCTGTGTTCGGGTGCCGGGCCGCTCCCCAGGG
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Task1_train_13497
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This alteration occurs within gene KCNT1 (potassium sodium-activated channel subfamily T member 1) located on Chromosome 9. Is it associated with a disease or is it a benign variant?
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Pathogenic; Developmental and epileptic encephalopathy, 14
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GGACCCCCTCAGTTCACTGGGTGGGGTGGGGGCCTTCAAGCGGCTTCTGGGTGCTTCTGACACGATCCCCTCACCCTTTGAGCTCATCTGTGCTTTCCAACCGGAGATGTTCCAGCCACATCTTGGCCTTCGCCTGCTCCAGTCTGGAATGAACCACTTCTCCAAGGAACCCTGATTCCTTTTAGTGGAAAATGATGATTGGAAACCAAGACCTGGGCACGTGGCGTGCTCACTGCTGTTGGCATCCCTGCTCTGAGAAAACGTGTGTGCATACACATGACACGTATCTATGCCCACACCTAGATCTCTAGCCACATGCCAAAACCACATGTTCACATGGACACCGCCCTTTCCACCCCTGACATGACTGCTCTGTGCCGCCTGTGGGTACAGCTGTGGCATCTGGTGGTGCCTGTAGCTCCCCACAGGCGTGTGCAGGCCGTGAAAGGGCTGTGGGCCGAGAGGCTAACGGCTGGGTGTTCACGGGGGATGTTTGGTGAGGGGTCTGGGAGGGCTCCAGTGGCCAGCAGGAACCACAGCCCTGACTCCAGCCCTGACTCCAGCATCTGCCCCCAGGGCTGCAAGCACAACAGCTATGAAGACGCCAAGGCCTACGGGTTCAAGAACAAGCTGATCATCGTCTCGGCAGAGACGGCCGGCAATGGGCTGTACAACTTCATCGTGCCACTGCGGGCCTACTACAGATCCCGCAAGGAGCTGAACCCCATCGTGCTGCTGCTGGACAACAAGTGAGGCTCCTGGGGCTCAGCCCACCCCGCCCACCCGGGCCCTCAGACCTGCAGCCAGCAGCCTCCCCAACTGGGCCCACCCTTCGCCTTTGCAGAGGGCACGGGAACATGGGGCCTCTGGCCTGGTCCTCTCAGCTTTCCTAAAAAGGGGGACTCTCCTTCCTGCTCCCAACTCCTCCTGCTCCCAGCTCCTCCCCACACCCACTCCTGCTCCCAGCTCCTCCCCACCCCCAGCTCCTCTGGCTCCTGGGTCCTCCCTGCTCCCTGTTCCCCCAGTTCCCAGCTCCACCCAACTCCCAGCTCCTCCTTGCTTCCAGCTCCCCCAGTTCCCAGCTACTCTCCATTCCCAGCTCCTCCCCACTCCCAGCTTCTCCCCACTCCCAGTTCCCCCTCACTCCCAGCTCCTCCCTGCTCCCAGTTCCTCTGGCCACCAGCTCCTCCCCACTCCCAGTTCCTCTGTCTCCCAGCTCCTCCATGCTCTCAGCTCCTGTGGCTCCCAGCTCCTCCCACTCTGGTCCTCTCTCCCCCTTTCCCCCTCCTCCCTTGTCACTCCTTCTGTCCTGTTTGCCTCCTGCTCCACTCACTCTGAGCCCCAGGATTGGGGTGGAGGGATAAATGGCTCTTCCTCCTGGGCACCTTTTTGCCCAGGGGACCCTAGGACCCTGACAGCTGAGCCCAGGGTCATCTTGGCTGTGTGACCTCAGCAGGTCCCACCCTCCCGGGCCTTGGTTTCCCCTTGAATAAAATAAAGAATGGCCCACTGGCCTTAAAGTACTCCCCAGGTCCCATACGCTGCGGTTCTGGGGAACCCCTGCCTGGCCCAGCTCTGTGCATGGAGGGTAGGGCCCCACTGGGCCTGAGGAGGGCAGGCCTTGAAGCAGGGTGGGCCCCTCCAGGACCGCTGTCCCCACAGGCCCGACCACCACTTCCTGGAAGCCATCTGCTGCTTCCCCATGGTCTACTACATGGAGGGCTCTGTGGACAAGTAAGGCGTGGCCGGCCGAGGCTCGTGGGGGCTCCACACCCACCCCTCCCCTCCTCTTCCAAAGTCTGGGGTGACCCCGACCGCAGGTGGGGTGGGGGGCTGAGGTCCTCCTGCCTTCTGACCAAATCCCGGGGTCCTGTGGGTGGGGAGTGGGCCGCATCCTCAGCCACGGGCCCTCGGTCCCGCCACCAGCCTGGACAGCCTGCTGCAGTGTGGCATCATCTATGCGGACAACCTGGTGGTGGTGGACAAGGAGAGCACCATGAGCGCCGAGGAGGACTACATGGCGGACGCCAAGACCATCGTCAACGTGCAGACCATGTTCCGGTGCGTCCAGTGTCCGGGGCTCGGCTCTAAACCACCCCACAGCCACGACCACGGGCCCTCGCCCTGAGACCCCCACAGCCACGACCACGGGCCCTCGCCCTGAGACCCCCACAGCCACGACCACGGGCCCTCGCCCTGAGACCGCCACAGCCACGACCACGGGCCCTCGCCCTGAGACCCCCACAGCTATGACCACAAGCCCCCACCCTGAAACCCCCACAACCACAGCCATGGGACCACACCCTGAGACCCCCACAGCCATGGACTCTGCCCAGAGACCCCCACAGCCACGACCACAAGCCCTCCACCCTGAGAGTCCCACAGCCATGACCATGGGCCTCTGCCCTGAGACCCCCCACAGCCGTGGGACCCTGCCCTGAGACCCCCATAGCCAAGACAGTGGGCCCTGCCCTGAGACCCCCCCACAGCCATGGGACCCCGCCCTGAGACCCCCACAGCCACATGATCATGGGCCCCCACCCTGAGACCTCCTACAACCACCATGGGCCCCGCCCTGAGCCGCCTGCCTCCCCCAGGCTCTTCCCCAGCCTCAGCATCACCACGGAGCTCACCCACCCTTCCAACATGCGCTTCATGCAGTTCCGCGCCAAGGACAGCTACTCTCTGGCTCTTTCCAAACTAGAAAAGGTGAGCAGCCCTGCCCCGTGCCAGCTGCCACCCCAGAATCCCAGAAAGAGTGGGAGAAAGGGGCTCAGGGGAAAGGGGGCCAGTGCCATGGGAGGCTGGGCTCCTGCCGCCCTCCTGCTGGGGAACTCAGGAGATGGCGTGGGGGGCCCAGCATGGACAGGGTGCTCTTGATGGTGGAACCAGGAGATGGAGGCAGGGCGTTTCCCTGACCGCGTGTGAGGCACTGGGAATGTGGCCCATAGCAGCCTTCCATCTCCCTGAGCAGGGACCAGGCCTGGCCGTATCTGGAGGCCAAGGCCATCTGTCCTGGCATGGTCAGTTGGTCAGAACTCCCGTGGGGAGCCCTCAGATCGGTGGTTCCACATAGGTTGGCCAGTAGCTCTTAGTACAGATAACGCACACGGCTGCACCATTCCAGACTTCTCCGCTGCCCTGGCCACTACGCCCGACCTTGAAACAGGTTCAGTATAACCACTGCCTCCTTGTATTGACAAGGGACGGAGGGCCTGAGAGGGAAGGGGCCTGCCCCGGATCGCACAGTGGAGCAAGTGGCTGAGCTGGAATTGGCTTTCTGCCCTTGGAGCTCCATGAAGGGCACCACCCAGGGTCAGGTGTGGAACCCAGGGGCACGGGCACTGTTGCTGTTGCCTTGATATCTGGCTGACCCCAGCCCCACCGCATTCCCCACCTGCTCAAGCTGGGACAGCACCACCTTGTCCACACGGGGGCTGGTGCCCAGGCAGCCCTAGGCTGAGAGCAGGGAGCAGGCACCTTGGTCAGCAGCAATGCTGTCTGCTCTACACGAACCCCGAGCTCACCGGTCTGGGCTGAAGTCCTCATCGGCGAGCTGCTGGGACCTGCGTGGCTGCAGGATTGTGACACCGTGGAGGATCTACTGAGCCAGGCCCGGCCTGGCCACCAACACCAGGCAGAGGACACACACGGGCACTCCCTGCGACACGGACATGGCTTTGTCCCACCTGAACCCGATGGAGAGTGAAAGTGTGTTCCGGCCAGCCGTGGACCAAGAGCCCATAGGGATCCTGGAGTCAGTTCTGCCCCAGAGAAGCGAGAGGAGGCCGGGCTGGGCAGCCACCAGGTCAACAGGGGCTTCTGCCTTAGAGATGCCAGCCTGAGGCGTAGGGGGATGCTCGGGCACCTGGTCTCAGCACAGGAGAGGGCTCTGTCTGCCCTGCCCGCCGCCCAAGCCCACCCTGGAGCCTGCCCTGCCCAGCGTCGGGAGCTCCTGGCCCCAGTCCCCGGCTCAGCCGGCAGAGGGGTGTGCTCTGCAGCTGGAACCACGGAAGGGGAGGAAGTTCACAGGATTCTGTGTTCGGGTGCCGGGCCGCTCCCCAGGGCTGGGAGGACTCTCCGGATCTGGAAGACC
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GGACCCCCTCAGTTCACTGGGTGGGGTGGGGGCCTTCAAGCGGCTTCTGGGTGCTTCTGACACGATCCCCTCACCCTTTGAGCTCATCTGTGCTTTCCAACCGGAGATGTTCCAGCCACATCTTGGCCTTCGCCTGCTCCAGTCTGGAATGAACCACTTCTCCAAGGAACCCTGATTCCTTTTAGTGGAAAATGATGATTGGAAACCAAGACCTGGGCACGTGGCGTGCTCACTGCTGTTGGCATCCCTGCTCTGAGAAAACGTGTGTGCATACACATGACACGTATCTATGCCCACACCTAGATCTCTAGCCACATGCCAAAACCACATGTTCACATGGACACCGCCCTTTCCACCCCTGACATGACTGCTCTGTGCCGCCTGTGGGTACAGCTGTGGCATCTGGTGGTGCCTGTAGCTCCCCACAGGCGTGTGCAGGCCGTGAAAGGGCTGTGGGCCGAGAGGCTAACGGCTGGGTGTTCACGGGGGATGTTTGGTGAGGGGTCTGGGAGGGCTCCAGTGGCCAGCAGGAACCACAGCCCTGACTCCAGCCCTGACTCCAGCATCTGCCCCCAGGGCTGCAAGCACAACAGCTATGAAGACGCCAAGGCCTACGGGTTCAAGAACAAGCTGATCATCGTCTCGGCAGAGACGGCCGGCAATGGGCTGTACAACTTCATCGTGCCACTGCGGGCCTACTACAGATCCCGCAAGGAGCTGAACCCCATCGTGCTGCTGCTGGACAACAAGTGAGGCTCCTGGGGCTCAGCCCACCCCGCCCACCCGGGCCCTCAGACCTGCAGCCAGCAGCCTCCCCAACTGGGCCCACCCTTCGCCTTTGCAGAGGGCACGGGAACATGGGGCCTCTGGCCTGGTCCTCTCAGCTTTCCTAAAAAGGGGGACTCTCCTTCCTGCTCCCAACTCCTCCTGCTCCCAGCTCCTCCCCACACCCACTCCTGCTCCCAGCTCCTCCCCACCCCCAGCTCCTCTGGCTCCTGGGTCCTCCCTGCTCCCTGTTCCCCCAGTTCCCAGCTCCACCCAACTCCCAGCTCCTCCTTGCTTCCAGCTCCCCCAGTTCCCAGCTACTCTCCATTCCCAGCTCCTCCCCACTCCCAGCTTCTCCCCACTCCCAGTTCCCCCTCACTCCCAGCTCCTCCCTGCTCCCAGTTCCTCTGGCCACCAGCTCCTCCCCACTCCCAGTTCCTCTGTCTCCCAGCTCCTCCATGCTCTCAGCTCCTGTGGCTCCCAGCTCCTCCCACTCTGGTCCTCTCTCCCCCTTTCCCCCTCCTCCCTTGTCACTCCTTCTGTCCTGTTTGCCTCCTGCTCCACTCACTCTGAGCCCCAGGATTGGGGTGGAGGGATAAATGGCTCTTCCTCCTGGGCACCTTTTTGCCCAGGGGACCCTAGGACCCTGACAGCTGAGCCCAGGGTCATCTTGGCTGTGTGACCTCAGCAGGTCCCACCCTCCCGGGCCTTGGTTTCCCCTTGAATAAAATAAAGAATGGCCCACTGGCCTTAAAGTACTCCCCAGGTCCCATACGCTGCGGTTCTGGGGAACCCCTGCCTGGCCCAGCTCTGTGCATGGAGGGTAGGGCCCCACTGGGCCTGAGGAGGGCAGGCCTTGAAGCAGGGTGGGCCCCTCCAGGACCGCTGTCCCCACAGGCCCGACCACCACTTCCTGGAAGCCATCTGCTGCTTCCCCATGGTCTACTACATGGAGGGCTCTGTGGACAAGTAAGGCGTGGCCGGCCGAGGCTCGTGGGGGCTCCACACCCACCCCTCCCCTCCTCTTCCAAAGTCTGGGGTGACCCCGACCGCAGGTGGGGTGGGGGGCTGAGGTCCTCCTGCCTTCTGACCAAATCCCGGGGTCCTGTGGGTGGGGAGTGGGCCGCATCCTCAGCCACGGGCCCTCGGTCCCGCCACCAGCCTGGACAGCCTGCTGCAGTGTGGCATCATCTATGCGGACAACCTGGTGGTGGTGGACAAGGAGAGCACCATGAGCGCCGAGGAGGACTACATGGCGGACGCCAAGACCATCGTCAACGTGCGGACCATGTTCCGGTGCGTCCAGTGTCCGGGGCTCGGCTCTAAACCACCCCACAGCCACGACCACGGGCCCTCGCCCTGAGACCCCCACAGCCACGACCACGGGCCCTCGCCCTGAGACCCCCACAGCCACGACCACGGGCCCTCGCCCTGAGACCGCCACAGCCACGACCACGGGCCCTCGCCCTGAGACCCCCACAGCTATGACCACAAGCCCCCACCCTGAAACCCCCACAACCACAGCCATGGGACCACACCCTGAGACCCCCACAGCCATGGACTCTGCCCAGAGACCCCCACAGCCACGACCACAAGCCCTCCACCCTGAGAGTCCCACAGCCATGACCATGGGCCTCTGCCCTGAGACCCCCCACAGCCGTGGGACCCTGCCCTGAGACCCCCATAGCCAAGACAGTGGGCCCTGCCCTGAGACCCCCCCACAGCCATGGGACCCCGCCCTGAGACCCCCACAGCCACATGATCATGGGCCCCCACCCTGAGACCTCCTACAACCACCATGGGCCCCGCCCTGAGCCGCCTGCCTCCCCCAGGCTCTTCCCCAGCCTCAGCATCACCACGGAGCTCACCCACCCTTCCAACATGCGCTTCATGCAGTTCCGCGCCAAGGACAGCTACTCTCTGGCTCTTTCCAAACTAGAAAAGGTGAGCAGCCCTGCCCCGTGCCAGCTGCCACCCCAGAATCCCAGAAAGAGTGGGAGAAAGGGGCTCAGGGGAAAGGGGGCCAGTGCCATGGGAGGCTGGGCTCCTGCCGCCCTCCTGCTGGGGAACTCAGGAGATGGCGTGGGGGGCCCAGCATGGACAGGGTGCTCTTGATGGTGGAACCAGGAGATGGAGGCAGGGCGTTTCCCTGACCGCGTGTGAGGCACTGGGAATGTGGCCCATAGCAGCCTTCCATCTCCCTGAGCAGGGACCAGGCCTGGCCGTATCTGGAGGCCAAGGCCATCTGTCCTGGCATGGTCAGTTGGTCAGAACTCCCGTGGGGAGCCCTCAGATCGGTGGTTCCACATAGGTTGGCCAGTAGCTCTTAGTACAGATAACGCACACGGCTGCACCATTCCAGACTTCTCCGCTGCCCTGGCCACTACGCCCGACCTTGAAACAGGTTCAGTATAACCACTGCCTCCTTGTATTGACAAGGGACGGAGGGCCTGAGAGGGAAGGGGCCTGCCCCGGATCGCACAGTGGAGCAAGTGGCTGAGCTGGAATTGGCTTTCTGCCCTTGGAGCTCCATGAAGGGCACCACCCAGGGTCAGGTGTGGAACCCAGGGGCACGGGCACTGTTGCTGTTGCCTTGATATCTGGCTGACCCCAGCCCCACCGCATTCCCCACCTGCTCAAGCTGGGACAGCACCACCTTGTCCACACGGGGGCTGGTGCCCAGGCAGCCCTAGGCTGAGAGCAGGGAGCAGGCACCTTGGTCAGCAGCAATGCTGTCTGCTCTACACGAACCCCGAGCTCACCGGTCTGGGCTGAAGTCCTCATCGGCGAGCTGCTGGGACCTGCGTGGCTGCAGGATTGTGACACCGTGGAGGATCTACTGAGCCAGGCCCGGCCTGGCCACCAACACCAGGCAGAGGACACACACGGGCACTCCCTGCGACACGGACATGGCTTTGTCCCACCTGAACCCGATGGAGAGTGAAAGTGTGTTCCGGCCAGCCGTGGACCAAGAGCCCATAGGGATCCTGGAGTCAGTTCTGCCCCAGAGAAGCGAGAGGAGGCCGGGCTGGGCAGCCACCAGGTCAACAGGGGCTTCTGCCTTAGAGATGCCAGCCTGAGGCGTAGGGGGATGCTCGGGCACCTGGTCTCAGCACAGGAGAGGGCTCTGTCTGCCCTGCCCGCCGCCCAAGCCCACCCTGGAGCCTGCCCTGCCCAGCGTCGGGAGCTCCTGGCCCCAGTCCCCGGCTCAGCCGGCAGAGGGGTGTGCTCTGCAGCTGGAACCACGGAAGGGGAGGAAGTTCACAGGATTCTGTGTTCGGGTGCCGGGCCGCTCCCCAGGGCTGGGAGGACTCTCCGGATCTGGAAGACC
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Task1_train_13498
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This genomic variant is located on Chromosome 9, within the KCNT1 (potassium sodium-activated channel subfamily T member 1) gene. Can you determine its pathogenicity and name any linked disease?
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Pathogenic; Autosomal dominant nocturnal frontal lobe epilepsy 5
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GGACCCCCTCAGTTCACTGGGTGGGGTGGGGGCCTTCAAGCGGCTTCTGGGTGCTTCTGACACGATCCCCTCACCCTTTGAGCTCATCTGTGCTTTCCAACCGGAGATGTTCCAGCCACATCTTGGCCTTCGCCTGCTCCAGTCTGGAATGAACCACTTCTCCAAGGAACCCTGATTCCTTTTAGTGGAAAATGATGATTGGAAACCAAGACCTGGGCACGTGGCGTGCTCACTGCTGTTGGCATCCCTGCTCTGAGAAAACGTGTGTGCATACACATGACACGTATCTATGCCCACACCTAGATCTCTAGCCACATGCCAAAACCACATGTTCACATGGACACCGCCCTTTCCACCCCTGACATGACTGCTCTGTGCCGCCTGTGGGTACAGCTGTGGCATCTGGTGGTGCCTGTAGCTCCCCACAGGCGTGTGCAGGCCGTGAAAGGGCTGTGGGCCGAGAGGCTAACGGCTGGGTGTTCACGGGGGATGTTTGGTGAGGGGTCTGGGAGGGCTCCAGTGGCCAGCAGGAACCACAGCCCTGACTCCAGCCCTGACTCCAGCATCTGCCCCCAGGGCTGCAAGCACAACAGCTATGAAGACGCCAAGGCCTACGGGTTCAAGAACAAGCTGATCATCGTCTCGGCAGAGACGGCCGGCAATGGGCTGTACAACTTCATCGTGCCACTGCGGGCCTACTACAGATCCCGCAAGGAGCTGAACCCCATCGTGCTGCTGCTGGACAACAAGTGAGGCTCCTGGGGCTCAGCCCACCCCGCCCACCCGGGCCCTCAGACCTGCAGCCAGCAGCCTCCCCAACTGGGCCCACCCTTCGCCTTTGCAGAGGGCACGGGAACATGGGGCCTCTGGCCTGGTCCTCTCAGCTTTCCTAAAAAGGGGGACTCTCCTTCCTGCTCCCAACTCCTCCTGCTCCCAGCTCCTCCCCACACCCACTCCTGCTCCCAGCTCCTCCCCACCCCCAGCTCCTCTGGCTCCTGGGTCCTCCCTGCTCCCTGTTCCCCCAGTTCCCAGCTCCACCCAACTCCCAGCTCCTCCTTGCTTCCAGCTCCCCCAGTTCCCAGCTACTCTCCATTCCCAGCTCCTCCCCACTCCCAGCTTCTCCCCACTCCCAGTTCCCCCTCACTCCCAGCTCCTCCCTGCTCCCAGTTCCTCTGGCCACCAGCTCCTCCCCACTCCCAGTTCCTCTGTCTCCCAGCTCCTCCATGCTCTCAGCTCCTGTGGCTCCCAGCTCCTCCCACTCTGGTCCTCTCTCCCCCTTTCCCCCTCCTCCCTTGTCACTCCTTCTGTCCTGTTTGCCTCCTGCTCCACTCACTCTGAGCCCCAGGATTGGGGTGGAGGGATAAATGGCTCTTCCTCCTGGGCACCTTTTTGCCCAGGGGACCCTAGGACCCTGACAGCTGAGCCCAGGGTCATCTTGGCTGTGTGACCTCAGCAGGTCCCACCCTCCCGGGCCTTGGTTTCCCCTTGAATAAAATAAAGAATGGCCCACTGGCCTTAAAGTACTCCCCAGGTCCCATACGCTGCGGTTCTGGGGAACCCCTGCCTGGCCCAGCTCTGTGCATGGAGGGTAGGGCCCCACTGGGCCTGAGGAGGGCAGGCCTTGAAGCAGGGTGGGCCCCTCCAGGACCGCTGTCCCCACAGGCCCGACCACCACTTCCTGGAAGCCATCTGCTGCTTCCCCATGGTCTACTACATGGAGGGCTCTGTGGACAAGTAAGGCGTGGCCGGCCGAGGCTCGTGGGGGCTCCACACCCACCCCTCCCCTCCTCTTCCAAAGTCTGGGGTGACCCCGACCGCAGGTGGGGTGGGGGGCTGAGGTCCTCCTGCCTTCTGACCAAATCCCGGGGTCCTGTGGGTGGGGAGTGGGCCGCATCCTCAGCCACGGGCCCTCGGTCCCGCCACCAGCCTGGACAGCCTGCTGCAGTGTGGCATCATCTATGCGGACAACCTGGTGGTGGTGGACAAGGAGAGCACCATGAGCGCCGAGGAGGACTACATGGCGGACGCCAAGACCATCGTCAACGTGCAGACCATGTTCCGGTGCGTCCAGTGTCCGGGGCTCGGCTCTAAACCACCCCACAGCCACGACCACGGGCCCTCGCCCTGAGACCCCCACAGCCACGACCACGGGCCCTCGCCCTGAGACCCCCACAGCCACGACCACGGGCCCTCGCCCTGAGACCGCCACAGCCACGACCACGGGCCCTCGCCCTGAGACCCCCACAGCTATGACCACAAGCCCCCACCCTGAAACCCCCACAACCACAGCCATGGGACCACACCCTGAGACCCCCACAGCCATGGACTCTGCCCAGAGACCCCCACAGCCACGACCACAAGCCCTCCACCCTGAGAGTCCCACAGCCATGACCATGGGCCTCTGCCCTGAGACCCCCCACAGCCGTGGGACCCTGCCCTGAGACCCCCATAGCCAAGACAGTGGGCCCTGCCCTGAGACCCCCCCACAGCCATGGGACCCCGCCCTGAGACCCCCACAGCCACATGATCATGGGCCCCCACCCTGAGACCTCCTACAACCACCATGGGCCCCGCCCTGAGCCGCCTGCCTCCCCCAGGCTCTTCCCCAGCCTCAGCATCACCACGGAGCTCACCCACCCTTCCAACATGCGCTTCATGCAGTTCCGCGCCAAGGACAGCTACTCTCTGGCTCTTTCCAAACTAGAAAAGGTGAGCAGCCCTGCCCCGTGCCAGCTGCCACCCCAGAATCCCAGAAAGAGTGGGAGAAAGGGGCTCAGGGGAAAGGGGGCCAGTGCCATGGGAGGCTGGGCTCCTGCCGCCCTCCTGCTGGGGAACTCAGGAGATGGCGTGGGGGGCCCAGCATGGACAGGGTGCTCTTGATGGTGGAACCAGGAGATGGAGGCAGGGCGTTTCCCTGACCGCGTGTGAGGCACTGGGAATGTGGCCCATAGCAGCCTTCCATCTCCCTGAGCAGGGACCAGGCCTGGCCGTATCTGGAGGCCAAGGCCATCTGTCCTGGCATGGTCAGTTGGTCAGAACTCCCGTGGGGAGCCCTCAGATCGGTGGTTCCACATAGGTTGGCCAGTAGCTCTTAGTACAGATAACGCACACGGCTGCACCATTCCAGACTTCTCCGCTGCCCTGGCCACTACGCCCGACCTTGAAACAGGTTCAGTATAACCACTGCCTCCTTGTATTGACAAGGGACGGAGGGCCTGAGAGGGAAGGGGCCTGCCCCGGATCGCACAGTGGAGCAAGTGGCTGAGCTGGAATTGGCTTTCTGCCCTTGGAGCTCCATGAAGGGCACCACCCAGGGTCAGGTGTGGAACCCAGGGGCACGGGCACTGTTGCTGTTGCCTTGATATCTGGCTGACCCCAGCCCCACCGCATTCCCCACCTGCTCAAGCTGGGACAGCACCACCTTGTCCACACGGGGGCTGGTGCCCAGGCAGCCCTAGGCTGAGAGCAGGGAGCAGGCACCTTGGTCAGCAGCAATGCTGTCTGCTCTACACGAACCCCGAGCTCACCGGTCTGGGCTGAAGTCCTCATCGGCGAGCTGCTGGGACCTGCGTGGCTGCAGGATTGTGACACCGTGGAGGATCTACTGAGCCAGGCCCGGCCTGGCCACCAACACCAGGCAGAGGACACACACGGGCACTCCCTGCGACACGGACATGGCTTTGTCCCACCTGAACCCGATGGAGAGTGAAAGTGTGTTCCGGCCAGCCGTGGACCAAGAGCCCATAGGGATCCTGGAGTCAGTTCTGCCCCAGAGAAGCGAGAGGAGGCCGGGCTGGGCAGCCACCAGGTCAACAGGGGCTTCTGCCTTAGAGATGCCAGCCTGAGGCGTAGGGGGATGCTCGGGCACCTGGTCTCAGCACAGGAGAGGGCTCTGTCTGCCCTGCCCGCCGCCCAAGCCCACCCTGGAGCCTGCCCTGCCCAGCGTCGGGAGCTCCTGGCCCCAGTCCCCGGCTCAGCCGGCAGAGGGGTGTGCTCTGCAGCTGGAACCACGGAAGGGGAGGAAGTTCACAGGATTCTGTGTTCGGGTGCCGGGCCGCTCCCCAGGGCTGGGAGGACTCTCCGGATCTGGAAGACC
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GGACCCCCTCAGTTCACTGGGTGGGGTGGGGGCCTTCAAGCGGCTTCTGGGTGCTTCTGACACGATCCCCTCACCCTTTGAGCTCATCTGTGCTTTCCAACCGGAGATGTTCCAGCCACATCTTGGCCTTCGCCTGCTCCAGTCTGGAATGAACCACTTCTCCAAGGAACCCTGATTCCTTTTAGTGGAAAATGATGATTGGAAACCAAGACCTGGGCACGTGGCGTGCTCACTGCTGTTGGCATCCCTGCTCTGAGAAAACGTGTGTGCATACACATGACACGTATCTATGCCCACACCTAGATCTCTAGCCACATGCCAAAACCACATGTTCACATGGACACCGCCCTTTCCACCCCTGACATGACTGCTCTGTGCCGCCTGTGGGTACAGCTGTGGCATCTGGTGGTGCCTGTAGCTCCCCACAGGCGTGTGCAGGCCGTGAAAGGGCTGTGGGCCGAGAGGCTAACGGCTGGGTGTTCACGGGGGATGTTTGGTGAGGGGTCTGGGAGGGCTCCAGTGGCCAGCAGGAACCACAGCCCTGACTCCAGCCCTGACTCCAGCATCTGCCCCCAGGGCTGCAAGCACAACAGCTATGAAGACGCCAAGGCCTACGGGTTCAAGAACAAGCTGATCATCGTCTCGGCAGAGACGGCCGGCAATGGGCTGTACAACTTCATCGTGCCACTGCGGGCCTACTACAGATCCCGCAAGGAGCTGAACCCCATCGTGCTGCTGCTGGACAACAAGTGAGGCTCCTGGGGCTCAGCCCACCCCGCCCACCCGGGCCCTCAGACCTGCAGCCAGCAGCCTCCCCAACTGGGCCCACCCTTCGCCTTTGCAGAGGGCACGGGAACATGGGGCCTCTGGCCTGGTCCTCTCAGCTTTCCTAAAAAGGGGGACTCTCCTTCCTGCTCCCAACTCCTCCTGCTCCCAGCTCCTCCCCACACCCACTCCTGCTCCCAGCTCCTCCCCACCCCCAGCTCCTCTGGCTCCTGGGTCCTCCCTGCTCCCTGTTCCCCCAGTTCCCAGCTCCACCCAACTCCCAGCTCCTCCTTGCTTCCAGCTCCCCCAGTTCCCAGCTACTCTCCATTCCCAGCTCCTCCCCACTCCCAGCTTCTCCCCACTCCCAGTTCCCCCTCACTCCCAGCTCCTCCCTGCTCCCAGTTCCTCTGGCCACCAGCTCCTCCCCACTCCCAGTTCCTCTGTCTCCCAGCTCCTCCATGCTCTCAGCTCCTGTGGCTCCCAGCTCCTCCCACTCTGGTCCTCTCTCCCCCTTTCCCCCTCCTCCCTTGTCACTCCTTCTGTCCTGTTTGCCTCCTGCTCCACTCACTCTGAGCCCCAGGATTGGGGTGGAGGGATAAATGGCTCTTCCTCCTGGGCACCTTTTTGCCCAGGGGACCCTAGGACCCTGACAGCTGAGCCCAGGGTCATCTTGGCTGTGTGACCTCAGCAGGTCCCACCCTCCCGGGCCTTGGTTTCCCCTTGAATAAAATAAAGAATGGCCCACTGGCCTTAAAGTACTCCCCAGGTCCCATACGCTGCGGTTCTGGGGAACCCCTGCCTGGCCCAGCTCTGTGCATGGAGGGTAGGGCCCCACTGGGCCTGAGGAGGGCAGGCCTTGAAGCAGGGTGGGCCCCTCCAGGACCGCTGTCCCCACAGGCCCGACCACCACTTCCTGGAAGCCATCTGCTGCTTCCCCATGGTCTACTACATGGAGGGCTCTGTGGACAAGTAAGGCGTGGCCGGCCGAGGCTCGTGGGGGCTCCACACCCACCCCTCCCCTCCTCTTCCAAAGTCTGGGGTGACCCCGACCGCAGGTGGGGTGGGGGGCTGAGGTCCTCCTGCCTTCTGACCAAATCCCGGGGTCCTGTGGGTGGGGAGTGGGCCGCATCCTCAGCCACGGGCCCTCGGTCCCGCCACCAGCCTGGACAGCCTGCTGCAGTGTGGCATCATCTATGCGGACAACCTGGTGGTGGTGGACAAGGAGAGCACCATGAGCGCCGAGGAGGACTACATGGCGGACGCCAAGACCATCGTCAACGTGCGGACCATGTTCCGGTGCGTCCAGTGTCCGGGGCTCGGCTCTAAACCACCCCACAGCCACGACCACGGGCCCTCGCCCTGAGACCCCCACAGCCACGACCACGGGCCCTCGCCCTGAGACCCCCACAGCCACGACCACGGGCCCTCGCCCTGAGACCGCCACAGCCACGACCACGGGCCCTCGCCCTGAGACCCCCACAGCTATGACCACAAGCCCCCACCCTGAAACCCCCACAACCACAGCCATGGGACCACACCCTGAGACCCCCACAGCCATGGACTCTGCCCAGAGACCCCCACAGCCACGACCACAAGCCCTCCACCCTGAGAGTCCCACAGCCATGACCATGGGCCTCTGCCCTGAGACCCCCCACAGCCGTGGGACCCTGCCCTGAGACCCCCATAGCCAAGACAGTGGGCCCTGCCCTGAGACCCCCCCACAGCCATGGGACCCCGCCCTGAGACCCCCACAGCCACATGATCATGGGCCCCCACCCTGAGACCTCCTACAACCACCATGGGCCCCGCCCTGAGCCGCCTGCCTCCCCCAGGCTCTTCCCCAGCCTCAGCATCACCACGGAGCTCACCCACCCTTCCAACATGCGCTTCATGCAGTTCCGCGCCAAGGACAGCTACTCTCTGGCTCTTTCCAAACTAGAAAAGGTGAGCAGCCCTGCCCCGTGCCAGCTGCCACCCCAGAATCCCAGAAAGAGTGGGAGAAAGGGGCTCAGGGGAAAGGGGGCCAGTGCCATGGGAGGCTGGGCTCCTGCCGCCCTCCTGCTGGGGAACTCAGGAGATGGCGTGGGGGGCCCAGCATGGACAGGGTGCTCTTGATGGTGGAACCAGGAGATGGAGGCAGGGCGTTTCCCTGACCGCGTGTGAGGCACTGGGAATGTGGCCCATAGCAGCCTTCCATCTCCCTGAGCAGGGACCAGGCCTGGCCGTATCTGGAGGCCAAGGCCATCTGTCCTGGCATGGTCAGTTGGTCAGAACTCCCGTGGGGAGCCCTCAGATCGGTGGTTCCACATAGGTTGGCCAGTAGCTCTTAGTACAGATAACGCACACGGCTGCACCATTCCAGACTTCTCCGCTGCCCTGGCCACTACGCCCGACCTTGAAACAGGTTCAGTATAACCACTGCCTCCTTGTATTGACAAGGGACGGAGGGCCTGAGAGGGAAGGGGCCTGCCCCGGATCGCACAGTGGAGCAAGTGGCTGAGCTGGAATTGGCTTTCTGCCCTTGGAGCTCCATGAAGGGCACCACCCAGGGTCAGGTGTGGAACCCAGGGGCACGGGCACTGTTGCTGTTGCCTTGATATCTGGCTGACCCCAGCCCCACCGCATTCCCCACCTGCTCAAGCTGGGACAGCACCACCTTGTCCACACGGGGGCTGGTGCCCAGGCAGCCCTAGGCTGAGAGCAGGGAGCAGGCACCTTGGTCAGCAGCAATGCTGTCTGCTCTACACGAACCCCGAGCTCACCGGTCTGGGCTGAAGTCCTCATCGGCGAGCTGCTGGGACCTGCGTGGCTGCAGGATTGTGACACCGTGGAGGATCTACTGAGCCAGGCCCGGCCTGGCCACCAACACCAGGCAGAGGACACACACGGGCACTCCCTGCGACACGGACATGGCTTTGTCCCACCTGAACCCGATGGAGAGTGAAAGTGTGTTCCGGCCAGCCGTGGACCAAGAGCCCATAGGGATCCTGGAGTCAGTTCTGCCCCAGAGAAGCGAGAGGAGGCCGGGCTGGGCAGCCACCAGGTCAACAGGGGCTTCTGCCTTAGAGATGCCAGCCTGAGGCGTAGGGGGATGCTCGGGCACCTGGTCTCAGCACAGGAGAGGGCTCTGTCTGCCCTGCCCGCCGCCCAAGCCCACCCTGGAGCCTGCCCTGCCCAGCGTCGGGAGCTCCTGGCCCCAGTCCCCGGCTCAGCCGGCAGAGGGGTGTGCTCTGCAGCTGGAACCACGGAAGGGGAGGAAGTTCACAGGATTCTGTGTTCGGGTGCCGGGCCGCTCCCCAGGGCTGGGAGGACTCTCCGGATCTGGAAGACC
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Task1_train_13499
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Gene KCNT1 (potassium sodium-activated channel subfamily T member 1), found on Chromosome 9, is impacted by this variant. What is the biological outcome — benign or pathogenic?
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Pathogenic; Developmental and epileptic encephalopathy, 14
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ACGCCAAGGCCTACGGGTTCAAGAACAAGCTGATCATCGTCTCGGCAGAGACGGCCGGCAATGGGCTGTACAACTTCATCGTGCCACTGCGGGCCTACTACAGATCCCGCAAGGAGCTGAACCCCATCGTGCTGCTGCTGGACAACAAGTGAGGCTCCTGGGGCTCAGCCCACCCCGCCCACCCGGGCCCTCAGACCTGCAGCCAGCAGCCTCCCCAACTGGGCCCACCCTTCGCCTTTGCAGAGGGCACGGGAACATGGGGCCTCTGGCCTGGTCCTCTCAGCTTTCCTAAAAAGGGGGACTCTCCTTCCTGCTCCCAACTCCTCCTGCTCCCAGCTCCTCCCCACACCCACTCCTGCTCCCAGCTCCTCCCCACCCCCAGCTCCTCTGGCTCCTGGGTCCTCCCTGCTCCCTGTTCCCCCAGTTCCCAGCTCCACCCAACTCCCAGCTCCTCCTTGCTTCCAGCTCCCCCAGTTCCCAGCTACTCTCCATTCCCAGCTCCTCCCCACTCCCAGCTTCTCCCCACTCCCAGTTCCCCCTCACTCCCAGCTCCTCCCTGCTCCCAGTTCCTCTGGCCACCAGCTCCTCCCCACTCCCAGTTCCTCTGTCTCCCAGCTCCTCCATGCTCTCAGCTCCTGTGGCTCCCAGCTCCTCCCACTCTGGTCCTCTCTCCCCCTTTCCCCCTCCTCCCTTGTCACTCCTTCTGTCCTGTTTGCCTCCTGCTCCACTCACTCTGAGCCCCAGGATTGGGGTGGAGGGATAAATGGCTCTTCCTCCTGGGCACCTTTTTGCCCAGGGGACCCTAGGACCCTGACAGCTGAGCCCAGGGTCATCTTGGCTGTGTGACCTCAGCAGGTCCCACCCTCCCGGGCCTTGGTTTCCCCTTGAATAAAATAAAGAATGGCCCACTGGCCTTAAAGTACTCCCCAGGTCCCATACGCTGCGGTTCTGGGGAACCCCTGCCTGGCCCAGCTCTGTGCATGGAGGGTAGGGCCCCACTGGGCCTGAGGAGGGCAGGCCTTGAAGCAGGGTGGGCCCCTCCAGGACCGCTGTCCCCACAGGCCCGACCACCACTTCCTGGAAGCCATCTGCTGCTTCCCCATGGTCTACTACATGGAGGGCTCTGTGGACAAGTAAGGCGTGGCCGGCCGAGGCTCGTGGGGGCTCCACACCCACCCCTCCCCTCCTCTTCCAAAGTCTGGGGTGACCCCGACCGCAGGTGGGGTGGGGGGCTGAGGTCCTCCTGCCTTCTGACCAAATCCCGGGGTCCTGTGGGTGGGGAGTGGGCCGCATCCTCAGCCACGGGCCCTCGGTCCCGCCACCAGCCTGGACAGCCTGCTGCAGTGTGGCATCATCTATGCGGACAACCTGGTGGTGGTGGACAAGGAGAGCACCATGAGCGCCGAGGAGGACTACATGGCGGACGCCAAGACCATCGTCAACGTGCAGACCATGTTCCGGTGCGTCCAGTGTCCGGGGCTCGGCTCTAAACCACCCCACAGCCACGACCACGGGCCCTCGCCCTGAGACCCCCACAGCCACGACCACGGGCCCTCGCCCTGAGACCCCCACAGCCACGACCACGGGCCCTCGCCCTGAGACCGCCACAGCCACGACCACGGGCCCTCGCCCTGAGACCCCCACAGCTATGACCACAAGCCCCCACCCTGAAACCCCCACAACCACAGCCATGGGACCACACCCTGAGACCCCCACAGCCATGGACTCTGCCCAGAGACCCCCACAGCCACGACCACAAGCCCTCCACCCTGAGAGTCCCACAGCCATGACCATGGGCCTCTGCCCTGAGACCCCCCACAGCCGTGGGACCCTGCCCTGAGACCCCCATAGCCAAGACAGTGGGCCCTGCCCTGAGACCCCCCCACAGCCATGGGACCCCGCCCTGAGACCCCCACAGCCACATGATCATGGGCCCCCACCCTGAGACCTCCTACAACCACCATGGGCCCCGCCCTGAGCCGCCTGCCTCCCCCAGGCTCTTCCCCAGCCTCAGCATCACCACGGAGCTCACCCACCCTTCCAACATGCGCTTCATGCAGTTCCGCGCCAAGGACAGCTACTCTCTGGCTCTTTCCAAACTAGAAAAGGTGAGCAGCCCTGCCCCGTGCCAGCTGCCACCCCAGAATCCCAGAAAGAGTGGGAGAAAGGGGCTCAGGGGAAAGGGGGCCAGTGCCATGGGAGGCTGGGCTCCTGCCGCCCTCCTGCTGGGGAACTCAGGAGATGGCGTGGGGGGCCCAGCATGGACAGGGTGCTCTTGATGGTGGAACCAGGAGATGGAGGCAGGGCGTTTCCCTGACCGCGTGTGAGGCACTGGGAATGTGGCCCATAGCAGCCTTCCATCTCCCTGAGCAGGGACCAGGCCTGGCCGTATCTGGAGGCCAAGGCCATCTGTCCTGGCATGGTCAGTTGGTCAGAACTCCCGTGGGGAGCCCTCAGATCGGTGGTTCCACATAGGTTGGCCAGTAGCTCTTAGTACAGATAACGCACACGGCTGCACCATTCCAGACTTCTCCGCTGCCCTGGCCACTACGCCCGACCTTGAAACAGGTTCAGTATAACCACTGCCTCCTTGTATTGACAAGGGACGGAGGGCCTGAGAGGGAAGGGGCCTGCCCCGGATCGCACAGTGGAGCAAGTGGCTGAGCTGGAATTGGCTTTCTGCCCTTGGAGCTCCATGAAGGGCACCACCCAGGGTCAGGTGTGGAACCCAGGGGCACGGGCACTGTTGCTGTTGCCTTGATATCTGGCTGACCCCAGCCCCACCGCATTCCCCACCTGCTCAAGCTGGGACAGCACCACCTTGTCCACACGGGGGCTGGTGCCCAGGCAGCCCTAGGCTGAGAGCAGGGAGCAGGCACCTTGGTCAGCAGCAATGCTGTCTGCTCTACACGAACCCCGAGCTCACCGGTCTGGGCTGAAGTCCTCATCGGCGAGCTGCTGGGACCTGCGTGGCTGCAGGATTGTGACACCGTGGAGGATCTACTGAGCCAGGCCCGGCCTGGCCACCAACACCAGGCAGAGGACACACACGGGCACTCCCTGCGACACGGACATGGCTTTGTCCCACCTGAACCCGATGGAGAGTGAAAGTGTGTTCCGGCCAGCCGTGGACCAAGAGCCCATAGGGATCCTGGAGTCAGTTCTGCCCCAGAGAAGCGAGAGGAGGCCGGGCTGGGCAGCCACCAGGTCAACAGGGGCTTCTGCCTTAGAGATGCCAGCCTGAGGCGTAGGGGGATGCTCGGGCACCTGGTCTCAGCACAGGAGAGGGCTCTGTCTGCCCTGCCCGCCGCCCAAGCCCACCCTGGAGCCTGCCCTGCCCAGCGTCGGGAGCTCCTGGCCCCAGTCCCCGGCTCAGCCGGCAGAGGGGTGTGCTCTGCAGCTGGAACCACGGAAGGGGAGGAAGTTCACAGGATTCTGTGTTCGGGTGCCGGGCCGCTCCCCAGGGCTGGGAGGACTCTCCGGATCTGGAAGACCAAGTCTGACCCTGTGTGGACAGGGATGCTGCCGTGGAGTCGGGGTCGAGGCAGTCATCCTGGCGCGGCTCCTCCGGCCTCAGCCTTGCACCTCTCTGTCCCACAAGGTGGCTTGAAGTTTGGGTCAGCAAGCACGCAGCCAACACGCTCCTGCCCGCCTTCCCGCCAGGCAGCCATCGCCAATCACCCACGCTCCGCCCCGCCGTGGGGCCCATCTCTTTCCCCGGCTTCACCTCCACTGGGGCTCTGTGTTGCCGGGGCGGGTGCGGCCAGCTCTCCATCTCAGAGCAGTGAACAGTCCTGGGCTCCAGCTCCAGTCATGCGATTCCGTGGCAGTTGTGTGACAGGGACCAAGGAGAAATCAGGACATCGGCAAAGCCTCTGGAAGCAGCCGTGAGCTCCTCTGGGCTGACATGGTGCTGGGGTCCATGTGGGACAGATGCCCTGGGCCCTGGGCAGGGCCAGGCATATACAGAGACGTGGAGCCGAGGGAGGAGAGGGTGCCGTGGACCACCTGACCCATCACCCTCTGCAGAGGCTGGGATCCGCCTCCCCAGCATGCAAGGAGCCTGTAGAAGGCACCAGGGGCTGCGTCTTCTCCA
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ACGCCAAGGCCTACGGGTTCAAGAACAAGCTGATCATCGTCTCGGCAGAGACGGCCGGCAATGGGCTGTACAACTTCATCGTGCCACTGCGGGCCTACTACAGATCCCGCAAGGAGCTGAACCCCATCGTGCTGCTGCTGGACAACAAGTGAGGCTCCTGGGGCTCAGCCCACCCCGCCCACCCGGGCCCTCAGACCTGCAGCCAGCAGCCTCCCCAACTGGGCCCACCCTTCGCCTTTGCAGAGGGCACGGGAACATGGGGCCTCTGGCCTGGTCCTCTCAGCTTTCCTAAAAAGGGGGACTCTCCTTCCTGCTCCCAACTCCTCCTGCTCCCAGCTCCTCCCCACACCCACTCCTGCTCCCAGCTCCTCCCCACCCCCAGCTCCTCTGGCTCCTGGGTCCTCCCTGCTCCCTGTTCCCCCAGTTCCCAGCTCCACCCAACTCCCAGCTCCTCCTTGCTTCCAGCTCCCCCAGTTCCCAGCTACTCTCCATTCCCAGCTCCTCCCCACTCCCAGCTTCTCCCCACTCCCAGTTCCCCCTCACTCCCAGCTCCTCCCTGCTCCCAGTTCCTCTGGCCACCAGCTCCTCCCCACTCCCAGTTCCTCTGTCTCCCAGCTCCTCCATGCTCTCAGCTCCTGTGGCTCCCAGCTCCTCCCACTCTGGTCCTCTCTCCCCCTTTCCCCCTCCTCCCTTGTCACTCCTTCTGTCCTGTTTGCCTCCTGCTCCACTCACTCTGAGCCCCAGGATTGGGGTGGAGGGATAAATGGCTCTTCCTCCTGGGCACCTTTTTGCCCAGGGGACCCTAGGACCCTGACAGCTGAGCCCAGGGTCATCTTGGCTGTGTGACCTCAGCAGGTCCCACCCTCCCGGGCCTTGGTTTCCCCTTGAATAAAATAAAGAATGGCCCACTGGCCTTAAAGTACTCCCCAGGTCCCATACGCTGCGGTTCTGGGGAACCCCTGCCTGGCCCAGCTCTGTGCATGGAGGGTAGGGCCCCACTGGGCCTGAGGAGGGCAGGCCTTGAAGCAGGGTGGGCCCCTCCAGGACCGCTGTCCCCACAGGCCCGACCACCACTTCCTGGAAGCCATCTGCTGCTTCCCCATGGTCTACTACATGGAGGGCTCTGTGGACAAGTAAGGCGTGGCCGGCCGAGGCTCGTGGGGGCTCCACACCCACCCCTCCCCTCCTCTTCCAAAGTCTGGGGTGACCCCGACCGCAGGTGGGGTGGGGGGCTGAGGTCCTCCTGCCTTCTGACCAAATCCCGGGGTCCTGTGGGTGGGGAGTGGGCCGCATCCTCAGCCACGGGCCCTCGGTCCCGCCACCAGCCTGGACAGCCTGCTGCAGTGTGGCATCATCTATGCGGACAACCTGGTGGTGGTGGACAAGGAGAGCACCATGAGCGCCGAGGAGGACTACATGGCGGACGCCAAGACCATCGTCAACGTGCAGACCATGTTCCGGTGCGTCCAGTGTCCGGGGCTCGGCTCTAAACCACCCCACAGCCACGACCACGGGCCCTCGCCCTGAGACCCCCACAGCCACGACCACGGGCCCTCGCCCTGAGACCCCCACAGCCACGACCACGGGCCCTCGCCCTGAGACCGCCACAGCCACGACCACGGGCCCTCGCCCTGAGACCCCCACAGCTATGACCACAAGCCCCCACCCTGAAACCCCCACAACCACAGCCATGGGACCACACCCTGAGACCCCCACAGCCATGGACTCTGCCCAGAGACCCCCACAGCCACGACCACAAGCCCTCCACCCTGAGAGTCCCACAGCCATGACCATGGGCCTCTGCCCTGAGACCCCCCACAGCCGTGGGACCCTGCCCTGAGACCCCCATAGCCAAGACAGTGGGCCCTGCCCTGAGACCCCCCCACAGCCATGGGACCCCGCCCTGAGACCCCCACAGCCACATGATCATGGGCCCCCACCCTGAGACCTCCTACAACCACCATGGGCCCCGCCCTGAGCCGCCTGCCTCCCCCAGGCTCTTCCCCAGCCTCAGCATCACCACGGAGCTCACCCACCCTTCCAACATGTGCTTCATGCAGTTCCGCGCCAAGGACAGCTACTCTCTGGCTCTTTCCAAACTAGAAAAGGTGAGCAGCCCTGCCCCGTGCCAGCTGCCACCCCAGAATCCCAGAAAGAGTGGGAGAAAGGGGCTCAGGGGAAAGGGGGCCAGTGCCATGGGAGGCTGGGCTCCTGCCGCCCTCCTGCTGGGGAACTCAGGAGATGGCGTGGGGGGCCCAGCATGGACAGGGTGCTCTTGATGGTGGAACCAGGAGATGGAGGCAGGGCGTTTCCCTGACCGCGTGTGAGGCACTGGGAATGTGGCCCATAGCAGCCTTCCATCTCCCTGAGCAGGGACCAGGCCTGGCCGTATCTGGAGGCCAAGGCCATCTGTCCTGGCATGGTCAGTTGGTCAGAACTCCCGTGGGGAGCCCTCAGATCGGTGGTTCCACATAGGTTGGCCAGTAGCTCTTAGTACAGATAACGCACACGGCTGCACCATTCCAGACTTCTCCGCTGCCCTGGCCACTACGCCCGACCTTGAAACAGGTTCAGTATAACCACTGCCTCCTTGTATTGACAAGGGACGGAGGGCCTGAGAGGGAAGGGGCCTGCCCCGGATCGCACAGTGGAGCAAGTGGCTGAGCTGGAATTGGCTTTCTGCCCTTGGAGCTCCATGAAGGGCACCACCCAGGGTCAGGTGTGGAACCCAGGGGCACGGGCACTGTTGCTGTTGCCTTGATATCTGGCTGACCCCAGCCCCACCGCATTCCCCACCTGCTCAAGCTGGGACAGCACCACCTTGTCCACACGGGGGCTGGTGCCCAGGCAGCCCTAGGCTGAGAGCAGGGAGCAGGCACCTTGGTCAGCAGCAATGCTGTCTGCTCTACACGAACCCCGAGCTCACCGGTCTGGGCTGAAGTCCTCATCGGCGAGCTGCTGGGACCTGCGTGGCTGCAGGATTGTGACACCGTGGAGGATCTACTGAGCCAGGCCCGGCCTGGCCACCAACACCAGGCAGAGGACACACACGGGCACTCCCTGCGACACGGACATGGCTTTGTCCCACCTGAACCCGATGGAGAGTGAAAGTGTGTTCCGGCCAGCCGTGGACCAAGAGCCCATAGGGATCCTGGAGTCAGTTCTGCCCCAGAGAAGCGAGAGGAGGCCGGGCTGGGCAGCCACCAGGTCAACAGGGGCTTCTGCCTTAGAGATGCCAGCCTGAGGCGTAGGGGGATGCTCGGGCACCTGGTCTCAGCACAGGAGAGGGCTCTGTCTGCCCTGCCCGCCGCCCAAGCCCACCCTGGAGCCTGCCCTGCCCAGCGTCGGGAGCTCCTGGCCCCAGTCCCCGGCTCAGCCGGCAGAGGGGTGTGCTCTGCAGCTGGAACCACGGAAGGGGAGGAAGTTCACAGGATTCTGTGTTCGGGTGCCGGGCCGCTCCCCAGGGCTGGGAGGACTCTCCGGATCTGGAAGACCAAGTCTGACCCTGTGTGGACAGGGATGCTGCCGTGGAGTCGGGGTCGAGGCAGTCATCCTGGCGCGGCTCCTCCGGCCTCAGCCTTGCACCTCTCTGTCCCACAAGGTGGCTTGAAGTTTGGGTCAGCAAGCACGCAGCCAACACGCTCCTGCCCGCCTTCCCGCCAGGCAGCCATCGCCAATCACCCACGCTCCGCCCCGCCGTGGGGCCCATCTCTTTCCCCGGCTTCACCTCCACTGGGGCTCTGTGTTGCCGGGGCGGGTGCGGCCAGCTCTCCATCTCAGAGCAGTGAACAGTCCTGGGCTCCAGCTCCAGTCATGCGATTCCGTGGCAGTTGTGTGACAGGGACCAAGGAGAAATCAGGACATCGGCAAAGCCTCTGGAAGCAGCCGTGAGCTCCTCTGGGCTGACATGGTGCTGGGGTCCATGTGGGACAGATGCCCTGGGCCCTGGGCAGGGCCAGGCATATACAGAGACGTGGAGCCGAGGGAGGAGAGGGTGCCGTGGACCACCTGACCCATCACCCTCTGCAGAGGCTGGGATCCGCCTCCCCAGCATGCAAGGAGCCTGTAGAAGGCACCAGGGGCTGCGTCTTCTCCA
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Subsets and Splits
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