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_800
|
A genomic change on Chromosome 1 affects MPL (MPL proto-oncogene, thrombopoietin receptor). Classify this variant as benign or pathogenic, and name the disease if relevant.
|
Pathogenic; Primary myelofibrosis
|
TGCACCCAGCCCCATCCACTGATTCAGAGCAAACAGGATAAAAGTACTGAAGACCATTGCTTCTCCAACTTTAAGTTACATTCAAACCATCTAGGGATTTTGGTAAAATGCAGGTTCTATTTTTGTAGGGGCCAGCTCCACAGGGTCAGTGGGTTTTTCTCCCTGTGTGCAAAGACGAGAGATCATAGAAATAAAGACACAAGACAAAGAGATAAAAGAAAAGACAGCTGGGTCCAGGGGACCACTACCACCAAGACGCGGAAACCAGTAGTGGCCCCGAATGCCAGGCTGCGCAGTTATTTATTGGATACAAGACAAGGGGGCAGGGTAAGGAGTGTGAGCCATCTCCAATCTGAGCAAACAGGATAAAAGTACTGAAGACCATTGCTTCTCCAACTTTAAGTTACATTCAAACCATCTGGGGATTTTGGCAAAATGCAGGTTCAACTTTAATAGGCCTGGGGTGGGGCCTAAGATTCTGCATTTCTAATAAGTGCCCACCTAATGCTGTTGCTCCTGGTCTACAGACCACATTTTGAGTAGCAAGGGATTAGAGGCAGCCGTGGAGGCCACCCATAATGGAGAGGGCATTTCCAGTTCCAGGGAGAATGTGTTTATTCATGCGCAAAGTCACAGAACTATTAAAGTGGAAATACCCACCATTTGGCATGGTTGTGGGGCAGAGAGTTATTTCTCAGCAGATTAGCCTCCCAAGAGCATAGCACAGCATGGCTGTTATGCAGGTGGGTTCTGAAGGTTGACCTCCTGAGCTTTATGTCTTAGTATGTAATCTTGGGCAAATCTTTAACTTCTCTGTATCTCCGTTTCCTCATCTCTATAATGGAAATAACAAGACTATTGTGCGGATTGTCTAAGTGAATGGATATAAAGTGCTTAACACACGGCAGCATAGTAAGTGCTCAGTAAAAGTTGCTATTCTGATGCTATTATACCATTCTATAATCGTTAGCACAGATACAGAGGCTGAGTTGCCTTTTGGTACACGGTCAAATATACAACCCCCATCTCCCTCACACCAAAAGGCCTGTGTCCTCTCTTTCAAATTCCTCCTTCCCTCCTGCCCACTCCCCCTCCCCTGGCCCCTGGCCCCAGTGTGGTCTGGATGGGCCCCAGAGGGGCAGGGACAGGGACAGGACGTGGGGCTGTATCTGACAGGAACCTGAGGGGCTGGCCTGGGAGGGGATTGGGGCCCAGCTTCCTGAAGGGAGGATGGGCTAAGGCAGGCACACAGTGGCGGAGAAGATGCCCTCCTGGGCCCTCTTCATGGTCACCTCCTGCCTCCTCCTGGCCCCTCAAAACCTGGCCCAAGTCAGCAGCCAAGGTGAGGTGCACAGAGGGTGGAGATCACCTATGCCCAGGAAGAGGGAGCCCTGGGAGGTGATGCAGGGCCCCGGGAGGGGAGGTAGAGTAAGAGGCTCTCCTGCTGGTCCCCTCCCCTTCCACATAAACATGCCTGGGAGGACCCAGGGCCAACTCACCAGCTGTTCCTTAGATGTCTCCTTGCTGGCATCAGACTCAGAGCCCCTGAAGTGTTTCTCCCGAACATTTGAGGACCTCACTTGCTTCTGGGATGAGGAAGAGGCAGCGCCCAGTGGGACATACCAGCTGCTGTATGCCTACCCGCGGTAGGTGCTGGACTGTGCCCCACTCCCCATGTATCTGTCCCTGCACTTAGCTGAGTCCCACTCCAGCAGCTTTCCTGCCTGTCCGAGGACCACTCTGAATACAAGCCCTAAGTACCTACTTTTTGAACAGATGTGCTTTGGATGTATGTGGGCCCCAGCTCCAGCCCTACATAACCCCTAATCCCACCTATCCCAGGCAGTGAGAAGAAAAATGGCAGTACTAGAGACAGAAGTTGGGCATGGGCCCAGGTCTGGGTCCTCAGGGCTCCGCATGGTGGCTGTGTAGGAGGGACCTCTTCTATGCCAACAGGGAGAAGCCCCGTGCTTGCCCCCTGAGTTCCCAGAGCATGCCCCACTTTGGAACCCGATACGTGTGCCAGTTTCCAGACCAGGAGGAAGTGCGTCTCTTCTTTCCGCTGCACCTCTGGGTGAAGAATGTGTTCCTAAACCAGACTCGGACTCAGCGAGTCCTCTTTGTGGACAGTGTAGGTAAGAGCCATCCTCCTGTCACCCTGCCCCCTCCACTTGCTGCCCCCAGTCCAGCTCCCGGAATCAGACTTGCCTGTGCCCTTCCAGCTCAGCACGGATACCCCTATTACCAGACCCCCTGAGGCACCCCAAGACTCCCTTGTCATTCCTCCCAGCCTTGGCATCTAGAGCTAGAAATGCCCAACAGATCATTCACACCCTGTTCCTCCCATCGTCAACAAATCATTTATTCATCCATTCAAGAGTTACAGAATACCTACTGTGTGCCAGACACTGGGCTAGGTGATGGGGATATGGAGAGAAAAAGGGATCCCTGCTTACAAGAAGCACTGAGTCTAGCAAGCCATCATACTGCAAAGAAGTCACTGTTCTCATGAGAGAAGAACAGAATCAGGAGCCTCCCTAGCCTGCCCTCCAGGAGAATGACAGCCTACAATTTTTGAATCCAGAAGCTGCCCCAATTCAGCCCCCAGCACCCCTCTCTGCAGTCCAGAGGCTGAGCCATAGACTGTGGTACTCAGAGTTCTGATGTGCCCTGTCTTGCCCTCAGGCCTGCCGGCTCCCCCCAGTATCATCAAGGCCATGGGTGGGAGCCAGCCAGGGGAACTTCAGATCAGCTGGGAGGAGCCAGCTCCAGAAATCAGTGATTTCCTGAGGTACGAACTCCGCTATGGCCCCAGAGATCCCAAGAACTCCACTGGTCCCACGGTCATACAGCTGATTGCCACAGAAACCTGCTGCCCTGCTCTGCAGAGGCCTCACTCAGCCTCTGCTCTGGACCAGTCTCCATGTGCTCAGCCCACAATGCCCTGGCAAGATGGACCAAAGCAGACCTCCCCAAGTAGAGAAGTATGCTGACCTTCTTCTGCCCCACCTCTTATCTCCTACCTTCAATCTTGCCCCAGGAAAGGACAGACCATACTTTGGGGATTCCAGACCTAGGTTCGTCCTTGGAGAGTTAGTATAGGCTCAGATATGAGCCACGCCTACTTAGGGGCTTCCTACTTTGGGTCATTCCCACTGACAAAAGCAAAGGCTTTCAGGCCTCCAAATTAATGGAGATTTCGCAACAAAACCCTGAACACCACCTGAAACCCACCAACTTAGCCCCTGGTCTGTGTGCATATCTATCCAGCAAGGAGCTGAGCTCCTCTCCACAGAGATGCTGTGCAAATATAAGGGTTGGAGGCTCTCTCAGCTGACAGGCAGACCTAGATTGTGAAGCTGGGATTTTCCTCCCAAGGCTTCAGCTCTGACAGCAGAGGGTGGAAGCTGCCTCATCTCAGGACTCCAGCCTGGCAACTCCTACTGGCTGCAGCTGCGCAGCGAACCTGATGGGATCTCCCTCGGTGGCTCCTGGGGATCCTGGTCCCTCCCTGTGACTGTGGACCTGCCTGGAGATGCAGGTGAGTCAACAAAGGAATAGGGAGATGGGGAGGAGATAAAAGAATATCTCTAGGGAAGCCTGGGCTAGATCTGAAGCTCTGGGAACCATGGTCCTTCCTGATGATCTCGAACTTGCCACTGGACAGGAACTATGTTCAGGGAAAGAAGAGAGAATAGGAGTCAATGTTCTAAGTTATATGTGTAGAAATTATCTGAAATCTGAACACCCTATACAGTAGGGGCACACGGGCCCTGATGGGACTTACTTCTTTGACTTTAGTGGCACTTGGACTGCAATGCTTTACCTTGGACCTGAAGAATGTTACCTGTCAATGGCAGCAACAGGACCATGCTAGCTCCCAAGGCTTCTTCTACCACAGCAGGGCACGGTGCTGCCCCAGAGACAGGTGAGAGCTGAACTGCTGATTGAGGTTGGTGTCATGGGAGTGAGCCACAATCTTGCAGAAAAAAAGAAGAGAGTGTTCTTGGTCCTCTTCACTCTCCTTCCTTTGTCTCCAAACCATACAGCTTTCAATGCTCTCTTATCTATTCTGTCATCCTCCAATCGATATTTT
|
TGCACCCAGCCCCATCCACTGATTCAGAGCAAACAGGATAAAAGTACTGAAGACCATTGCTTCTCCAACTTTAAGTTACATTCAAACCATCTAGGGATTTTGGTAAAATGCAGGTTCTATTTTTGTAGGGGCCAGCTCCACAGGGTCAGTGGGTTTTTCTCCCTGTGTGCAAAGACGAGAGATCATAGAAATAAAGACACAAGACAAAGAGATAAAAGAAAAGACAGCTGGGTCCAGGGGACCACTACCACCAAGACGCGGAAACCAGTAGTGGCCCCGAATGCCAGGCTGCGCAGTTATTTATTGGATACAAGACAAGGGGGCAGGGTAAGGAGTGTGAGCCATCTCCAATCTGAGCAAACAGGATAAAAGTACTGAAGACCATTGCTTCTCCAACTTTAAGTTACATTCAAACCATCTGGGGATTTTGGCAAAATGCAGGTTCAACTTTAATAGGCCTGGGGTGGGGCCTAAGATTCTGCATTTCTAATAAGTGCCCACCTAATGCTGTTGCTCCTGGTCTACAGACCACATTTTGAGTAGCAAGGGATTAGAGGCAGCCGTGGAGGCCACCCATAATGGAGAGGGCATTTCCAGTTCCAGGGAGAATGTGTTTATTCATGCGCAAAGTCACAGAACTATTAAAGTGGAAATACCCACCATTTGGCATGGTTGTGGGGCAGAGAGTTATTTCTCAGCAGATTAGCCTCCCAAGAGCATAGCACAGCATGGCTGTTATGCAGGTGGGTTCTGAAGGTTGACCTCCTGAGCTTTATGTCTTAGTATGTAATCTTGGGCAAATCTTTAACTTCTCTGTATCTCCGTTTCCTCATCTCTATAATGGAAATAACAAGACTATTGTGCGGATTGTCTAAGTGAATGGATATAAAGTGCTTAACACACGGCAGCATAGTAAGTGCTCAGTAAAAGTTGCTATTCTGATGCTATTATACCATTCTATAATCGTTAGCACAGATACAGAGGCTGAGTTGCCTTTTGGTACACGGTCAAATATACAACCCCCATCTCCCTCACACCAAAAGGCCTGTGTCCTCTCTTTCAAATTCCTCCTTCCCTCCTGCCCACTCCCCCTCCCCTGGCCCCTGGCCCCAGTGTGGTCTGGATGGGCCCCAGAGGGGCAGGGACAGGGACAGGACGTGGGGCTGTATCTGACAGGAACCTGAGGGGCTGGCCTGGGAGGGGATTGGGGCCCAGCTTCCTGAAGGGAGGATGGGCTAAGGCAGGCACACAGTGGCGGAGAAGATGCCCTCCTGGGCCCTCTTCATGGTCACCTCCTGCCTCCTCCTGGCCCCTCAAAACCTGGCCCAAGTCAGCAGCCAAGGTGAGGTGCACAGAGGGTGGAGATCACCTATGCCCAGGAAGAGGGAGCCCTGGGAGGTGATGCAGGGCCCCGGGAGGGGAGGTAGAGTAAGAGGCTCTCCTGCTGGTCCCCTCCCCTTCCACATAAACATGCCTGGGAGGACCCAGGGCCAACTCACCAGCTGTTCCTTAGATGTCTCCTTGCTGGCATCAGACTCAGAGCCCCTGAAGTGTTTCTCCCGAACATTTGAGGACCTCACTTGCTTCTGGGATGAGGAAGAGGCAGCGCCCAGTGGGACATACCAGCTGCTGTATGCCTACCCGCGGTAGGTGCTGGACTGTGCCCCACTCCCCATGTATCTGTCCCTGCACTTAGCTGAGTCCCACTCCAGCAGCTTTCCTGCCTGTCCGAGGACCACTCTGAATACAAGCCCTAAGTACCTACTTTTTGAACAGATGTGCTTTGGATGTATGTGGGCCCCAGCTCCAGCCCTACATAACCCCTAATCCCACCTATCCCAGGCAGTGAGAAGAAAAATGGCAGTACTAGAGACAGAAGTTGGGCATGGGCCCAGGTCTGGGTCCTCAGGGCTCCGCATGGTGGCTGTGTAGGAGGGACCTCTTCTATGCCAACAGGGAGAAGCCCCGTGCTTGCCCCCTGAGTTCCCAGAGCATGCCCCACTTTGGAACCCGATACGTGTGCCAGTTTCCAGACCAGGAGGAAGTGCCTCTCTTCTTTCCGCTGCACCTCTGGGTGAAGAATGTGTTCCTAAACCAGACTCGGACTCAGCGAGTCCTCTTTGTGGACAGTGTAGGTAAGAGCCATCCTCCTGTCACCCTGCCCCCTCCACTTGCTGCCCCCAGTCCAGCTCCCGGAATCAGACTTGCCTGTGCCCTTCCAGCTCAGCACGGATACCCCTATTACCAGACCCCCTGAGGCACCCCAAGACTCCCTTGTCATTCCTCCCAGCCTTGGCATCTAGAGCTAGAAATGCCCAACAGATCATTCACACCCTGTTCCTCCCATCGTCAACAAATCATTTATTCATCCATTCAAGAGTTACAGAATACCTACTGTGTGCCAGACACTGGGCTAGGTGATGGGGATATGGAGAGAAAAAGGGATCCCTGCTTACAAGAAGCACTGAGTCTAGCAAGCCATCATACTGCAAAGAAGTCACTGTTCTCATGAGAGAAGAACAGAATCAGGAGCCTCCCTAGCCTGCCCTCCAGGAGAATGACAGCCTACAATTTTTGAATCCAGAAGCTGCCCCAATTCAGCCCCCAGCACCCCTCTCTGCAGTCCAGAGGCTGAGCCATAGACTGTGGTACTCAGAGTTCTGATGTGCCCTGTCTTGCCCTCAGGCCTGCCGGCTCCCCCCAGTATCATCAAGGCCATGGGTGGGAGCCAGCCAGGGGAACTTCAGATCAGCTGGGAGGAGCCAGCTCCAGAAATCAGTGATTTCCTGAGGTACGAACTCCGCTATGGCCCCAGAGATCCCAAGAACTCCACTGGTCCCACGGTCATACAGCTGATTGCCACAGAAACCTGCTGCCCTGCTCTGCAGAGGCCTCACTCAGCCTCTGCTCTGGACCAGTCTCCATGTGCTCAGCCCACAATGCCCTGGCAAGATGGACCAAAGCAGACCTCCCCAAGTAGAGAAGTATGCTGACCTTCTTCTGCCCCACCTCTTATCTCCTACCTTCAATCTTGCCCCAGGAAAGGACAGACCATACTTTGGGGATTCCAGACCTAGGTTCGTCCTTGGAGAGTTAGTATAGGCTCAGATATGAGCCACGCCTACTTAGGGGCTTCCTACTTTGGGTCATTCCCACTGACAAAAGCAAAGGCTTTCAGGCCTCCAAATTAATGGAGATTTCGCAACAAAACCCTGAACACCACCTGAAACCCACCAACTTAGCCCCTGGTCTGTGTGCATATCTATCCAGCAAGGAGCTGAGCTCCTCTCCACAGAGATGCTGTGCAAATATAAGGGTTGGAGGCTCTCTCAGCTGACAGGCAGACCTAGATTGTGAAGCTGGGATTTTCCTCCCAAGGCTTCAGCTCTGACAGCAGAGGGTGGAAGCTGCCTCATCTCAGGACTCCAGCCTGGCAACTCCTACTGGCTGCAGCTGCGCAGCGAACCTGATGGGATCTCCCTCGGTGGCTCCTGGGGATCCTGGTCCCTCCCTGTGACTGTGGACCTGCCTGGAGATGCAGGTGAGTCAACAAAGGAATAGGGAGATGGGGAGGAGATAAAAGAATATCTCTAGGGAAGCCTGGGCTAGATCTGAAGCTCTGGGAACCATGGTCCTTCCTGATGATCTCGAACTTGCCACTGGACAGGAACTATGTTCAGGGAAAGAAGAGAGAATAGGAGTCAATGTTCTAAGTTATATGTGTAGAAATTATCTGAAATCTGAACACCCTATACAGTAGGGGCACACGGGCCCTGATGGGACTTACTTCTTTGACTTTAGTGGCACTTGGACTGCAATGCTTTACCTTGGACCTGAAGAATGTTACCTGTCAATGGCAGCAACAGGACCATGCTAGCTCCCAAGGCTTCTTCTACCACAGCAGGGCACGGTGCTGCCCCAGAGACAGGTGAGAGCTGAACTGCTGATTGAGGTTGGTGTCATGGGAGTGAGCCACAATCTTGCAGAAAAAAAGAAGAGAGTGTTCTTGGTCCTCTTCACTCTCCTTCCTTTGTCTCCAAACCATACAGCTTTCAATGCTCTCTTATCTATTCTGTCATCCTCCAATCGATATTTT
|
Task1_train_801
|
This genomic variant is located on Chromosome 1, within the MPL (MPL proto-oncogene, thrombopoietin receptor) gene. Can you determine its pathogenicity and name any linked disease?
|
Pathogenic; Thrombocythemia 2
|
TGCACCCAGCCCCATCCACTGATTCAGAGCAAACAGGATAAAAGTACTGAAGACCATTGCTTCTCCAACTTTAAGTTACATTCAAACCATCTAGGGATTTTGGTAAAATGCAGGTTCTATTTTTGTAGGGGCCAGCTCCACAGGGTCAGTGGGTTTTTCTCCCTGTGTGCAAAGACGAGAGATCATAGAAATAAAGACACAAGACAAAGAGATAAAAGAAAAGACAGCTGGGTCCAGGGGACCACTACCACCAAGACGCGGAAACCAGTAGTGGCCCCGAATGCCAGGCTGCGCAGTTATTTATTGGATACAAGACAAGGGGGCAGGGTAAGGAGTGTGAGCCATCTCCAATCTGAGCAAACAGGATAAAAGTACTGAAGACCATTGCTTCTCCAACTTTAAGTTACATTCAAACCATCTGGGGATTTTGGCAAAATGCAGGTTCAACTTTAATAGGCCTGGGGTGGGGCCTAAGATTCTGCATTTCTAATAAGTGCCCACCTAATGCTGTTGCTCCTGGTCTACAGACCACATTTTGAGTAGCAAGGGATTAGAGGCAGCCGTGGAGGCCACCCATAATGGAGAGGGCATTTCCAGTTCCAGGGAGAATGTGTTTATTCATGCGCAAAGTCACAGAACTATTAAAGTGGAAATACCCACCATTTGGCATGGTTGTGGGGCAGAGAGTTATTTCTCAGCAGATTAGCCTCCCAAGAGCATAGCACAGCATGGCTGTTATGCAGGTGGGTTCTGAAGGTTGACCTCCTGAGCTTTATGTCTTAGTATGTAATCTTGGGCAAATCTTTAACTTCTCTGTATCTCCGTTTCCTCATCTCTATAATGGAAATAACAAGACTATTGTGCGGATTGTCTAAGTGAATGGATATAAAGTGCTTAACACACGGCAGCATAGTAAGTGCTCAGTAAAAGTTGCTATTCTGATGCTATTATACCATTCTATAATCGTTAGCACAGATACAGAGGCTGAGTTGCCTTTTGGTACACGGTCAAATATACAACCCCCATCTCCCTCACACCAAAAGGCCTGTGTCCTCTCTTTCAAATTCCTCCTTCCCTCCTGCCCACTCCCCCTCCCCTGGCCCCTGGCCCCAGTGTGGTCTGGATGGGCCCCAGAGGGGCAGGGACAGGGACAGGACGTGGGGCTGTATCTGACAGGAACCTGAGGGGCTGGCCTGGGAGGGGATTGGGGCCCAGCTTCCTGAAGGGAGGATGGGCTAAGGCAGGCACACAGTGGCGGAGAAGATGCCCTCCTGGGCCCTCTTCATGGTCACCTCCTGCCTCCTCCTGGCCCCTCAAAACCTGGCCCAAGTCAGCAGCCAAGGTGAGGTGCACAGAGGGTGGAGATCACCTATGCCCAGGAAGAGGGAGCCCTGGGAGGTGATGCAGGGCCCCGGGAGGGGAGGTAGAGTAAGAGGCTCTCCTGCTGGTCCCCTCCCCTTCCACATAAACATGCCTGGGAGGACCCAGGGCCAACTCACCAGCTGTTCCTTAGATGTCTCCTTGCTGGCATCAGACTCAGAGCCCCTGAAGTGTTTCTCCCGAACATTTGAGGACCTCACTTGCTTCTGGGATGAGGAAGAGGCAGCGCCCAGTGGGACATACCAGCTGCTGTATGCCTACCCGCGGTAGGTGCTGGACTGTGCCCCACTCCCCATGTATCTGTCCCTGCACTTAGCTGAGTCCCACTCCAGCAGCTTTCCTGCCTGTCCGAGGACCACTCTGAATACAAGCCCTAAGTACCTACTTTTTGAACAGATGTGCTTTGGATGTATGTGGGCCCCAGCTCCAGCCCTACATAACCCCTAATCCCACCTATCCCAGGCAGTGAGAAGAAAAATGGCAGTACTAGAGACAGAAGTTGGGCATGGGCCCAGGTCTGGGTCCTCAGGGCTCCGCATGGTGGCTGTGTAGGAGGGACCTCTTCTATGCCAACAGGGAGAAGCCCCGTGCTTGCCCCCTGAGTTCCCAGAGCATGCCCCACTTTGGAACCCGATACGTGTGCCAGTTTCCAGACCAGGAGGAAGTGCGTCTCTTCTTTCCGCTGCACCTCTGGGTGAAGAATGTGTTCCTAAACCAGACTCGGACTCAGCGAGTCCTCTTTGTGGACAGTGTAGGTAAGAGCCATCCTCCTGTCACCCTGCCCCCTCCACTTGCTGCCCCCAGTCCAGCTCCCGGAATCAGACTTGCCTGTGCCCTTCCAGCTCAGCACGGATACCCCTATTACCAGACCCCCTGAGGCACCCCAAGACTCCCTTGTCATTCCTCCCAGCCTTGGCATCTAGAGCTAGAAATGCCCAACAGATCATTCACACCCTGTTCCTCCCATCGTCAACAAATCATTTATTCATCCATTCAAGAGTTACAGAATACCTACTGTGTGCCAGACACTGGGCTAGGTGATGGGGATATGGAGAGAAAAAGGGATCCCTGCTTACAAGAAGCACTGAGTCTAGCAAGCCATCATACTGCAAAGAAGTCACTGTTCTCATGAGAGAAGAACAGAATCAGGAGCCTCCCTAGCCTGCCCTCCAGGAGAATGACAGCCTACAATTTTTGAATCCAGAAGCTGCCCCAATTCAGCCCCCAGCACCCCTCTCTGCAGTCCAGAGGCTGAGCCATAGACTGTGGTACTCAGAGTTCTGATGTGCCCTGTCTTGCCCTCAGGCCTGCCGGCTCCCCCCAGTATCATCAAGGCCATGGGTGGGAGCCAGCCAGGGGAACTTCAGATCAGCTGGGAGGAGCCAGCTCCAGAAATCAGTGATTTCCTGAGGTACGAACTCCGCTATGGCCCCAGAGATCCCAAGAACTCCACTGGTCCCACGGTCATACAGCTGATTGCCACAGAAACCTGCTGCCCTGCTCTGCAGAGGCCTCACTCAGCCTCTGCTCTGGACCAGTCTCCATGTGCTCAGCCCACAATGCCCTGGCAAGATGGACCAAAGCAGACCTCCCCAAGTAGAGAAGTATGCTGACCTTCTTCTGCCCCACCTCTTATCTCCTACCTTCAATCTTGCCCCAGGAAAGGACAGACCATACTTTGGGGATTCCAGACCTAGGTTCGTCCTTGGAGAGTTAGTATAGGCTCAGATATGAGCCACGCCTACTTAGGGGCTTCCTACTTTGGGTCATTCCCACTGACAAAAGCAAAGGCTTTCAGGCCTCCAAATTAATGGAGATTTCGCAACAAAACCCTGAACACCACCTGAAACCCACCAACTTAGCCCCTGGTCTGTGTGCATATCTATCCAGCAAGGAGCTGAGCTCCTCTCCACAGAGATGCTGTGCAAATATAAGGGTTGGAGGCTCTCTCAGCTGACAGGCAGACCTAGATTGTGAAGCTGGGATTTTCCTCCCAAGGCTTCAGCTCTGACAGCAGAGGGTGGAAGCTGCCTCATCTCAGGACTCCAGCCTGGCAACTCCTACTGGCTGCAGCTGCGCAGCGAACCTGATGGGATCTCCCTCGGTGGCTCCTGGGGATCCTGGTCCCTCCCTGTGACTGTGGACCTGCCTGGAGATGCAGGTGAGTCAACAAAGGAATAGGGAGATGGGGAGGAGATAAAAGAATATCTCTAGGGAAGCCTGGGCTAGATCTGAAGCTCTGGGAACCATGGTCCTTCCTGATGATCTCGAACTTGCCACTGGACAGGAACTATGTTCAGGGAAAGAAGAGAGAATAGGAGTCAATGTTCTAAGTTATATGTGTAGAAATTATCTGAAATCTGAACACCCTATACAGTAGGGGCACACGGGCCCTGATGGGACTTACTTCTTTGACTTTAGTGGCACTTGGACTGCAATGCTTTACCTTGGACCTGAAGAATGTTACCTGTCAATGGCAGCAACAGGACCATGCTAGCTCCCAAGGCTTCTTCTACCACAGCAGGGCACGGTGCTGCCCCAGAGACAGGTGAGAGCTGAACTGCTGATTGAGGTTGGTGTCATGGGAGTGAGCCACAATCTTGCAGAAAAAAAGAAGAGAGTGTTCTTGGTCCTCTTCACTCTCCTTCCTTTGTCTCCAAACCATACAGCTTTCAATGCTCTCTTATCTATTCTGTCATCCTCCAATCGATATTTT
|
TGCACCCAGCCCCATCCACTGATTCAGAGCAAACAGGATAAAAGTACTGAAGACCATTGCTTCTCCAACTTTAAGTTACATTCAAACCATCTAGGGATTTTGGTAAAATGCAGGTTCTATTTTTGTAGGGGCCAGCTCCACAGGGTCAGTGGGTTTTTCTCCCTGTGTGCAAAGACGAGAGATCATAGAAATAAAGACACAAGACAAAGAGATAAAAGAAAAGACAGCTGGGTCCAGGGGACCACTACCACCAAGACGCGGAAACCAGTAGTGGCCCCGAATGCCAGGCTGCGCAGTTATTTATTGGATACAAGACAAGGGGGCAGGGTAAGGAGTGTGAGCCATCTCCAATCTGAGCAAACAGGATAAAAGTACTGAAGACCATTGCTTCTCCAACTTTAAGTTACATTCAAACCATCTGGGGATTTTGGCAAAATGCAGGTTCAACTTTAATAGGCCTGGGGTGGGGCCTAAGATTCTGCATTTCTAATAAGTGCCCACCTAATGCTGTTGCTCCTGGTCTACAGACCACATTTTGAGTAGCAAGGGATTAGAGGCAGCCGTGGAGGCCACCCATAATGGAGAGGGCATTTCCAGTTCCAGGGAGAATGTGTTTATTCATGCGCAAAGTCACAGAACTATTAAAGTGGAAATACCCACCATTTGGCATGGTTGTGGGGCAGAGAGTTATTTCTCAGCAGATTAGCCTCCCAAGAGCATAGCACAGCATGGCTGTTATGCAGGTGGGTTCTGAAGGTTGACCTCCTGAGCTTTATGTCTTAGTATGTAATCTTGGGCAAATCTTTAACTTCTCTGTATCTCCGTTTCCTCATCTCTATAATGGAAATAACAAGACTATTGTGCGGATTGTCTAAGTGAATGGATATAAAGTGCTTAACACACGGCAGCATAGTAAGTGCTCAGTAAAAGTTGCTATTCTGATGCTATTATACCATTCTATAATCGTTAGCACAGATACAGAGGCTGAGTTGCCTTTTGGTACACGGTCAAATATACAACCCCCATCTCCCTCACACCAAAAGGCCTGTGTCCTCTCTTTCAAATTCCTCCTTCCCTCCTGCCCACTCCCCCTCCCCTGGCCCCTGGCCCCAGTGTGGTCTGGATGGGCCCCAGAGGGGCAGGGACAGGGACAGGACGTGGGGCTGTATCTGACAGGAACCTGAGGGGCTGGCCTGGGAGGGGATTGGGGCCCAGCTTCCTGAAGGGAGGATGGGCTAAGGCAGGCACACAGTGGCGGAGAAGATGCCCTCCTGGGCCCTCTTCATGGTCACCTCCTGCCTCCTCCTGGCCCCTCAAAACCTGGCCCAAGTCAGCAGCCAAGGTGAGGTGCACAGAGGGTGGAGATCACCTATGCCCAGGAAGAGGGAGCCCTGGGAGGTGATGCAGGGCCCCGGGAGGGGAGGTAGAGTAAGAGGCTCTCCTGCTGGTCCCCTCCCCTTCCACATAAACATGCCTGGGAGGACCCAGGGCCAACTCACCAGCTGTTCCTTAGATGTCTCCTTGCTGGCATCAGACTCAGAGCCCCTGAAGTGTTTCTCCCGAACATTTGAGGACCTCACTTGCTTCTGGGATGAGGAAGAGGCAGCGCCCAGTGGGACATACCAGCTGCTGTATGCCTACCCGCGGTAGGTGCTGGACTGTGCCCCACTCCCCATGTATCTGTCCCTGCACTTAGCTGAGTCCCACTCCAGCAGCTTTCCTGCCTGTCCGAGGACCACTCTGAATACAAGCCCTAAGTACCTACTTTTTGAACAGATGTGCTTTGGATGTATGTGGGCCCCAGCTCCAGCCCTACATAACCCCTAATCCCACCTATCCCAGGCAGTGAGAAGAAAAATGGCAGTACTAGAGACAGAAGTTGGGCATGGGCCCAGGTCTGGGTCCTCAGGGCTCCGCATGGTGGCTGTGTAGGAGGGACCTCTTCTATGCCAACAGGGAGAAGCCCCGTGCTTGCCCCCTGAGTTCCCAGAGCATGCCCCACTTTGGAACCCGATACGTGTGCCAGTTTCCAGACCAGGAGGAAGTGCCTCTCTTCTTTCCGCTGCACCTCTGGGTGAAGAATGTGTTCCTAAACCAGACTCGGACTCAGCGAGTCCTCTTTGTGGACAGTGTAGGTAAGAGCCATCCTCCTGTCACCCTGCCCCCTCCACTTGCTGCCCCCAGTCCAGCTCCCGGAATCAGACTTGCCTGTGCCCTTCCAGCTCAGCACGGATACCCCTATTACCAGACCCCCTGAGGCACCCCAAGACTCCCTTGTCATTCCTCCCAGCCTTGGCATCTAGAGCTAGAAATGCCCAACAGATCATTCACACCCTGTTCCTCCCATCGTCAACAAATCATTTATTCATCCATTCAAGAGTTACAGAATACCTACTGTGTGCCAGACACTGGGCTAGGTGATGGGGATATGGAGAGAAAAAGGGATCCCTGCTTACAAGAAGCACTGAGTCTAGCAAGCCATCATACTGCAAAGAAGTCACTGTTCTCATGAGAGAAGAACAGAATCAGGAGCCTCCCTAGCCTGCCCTCCAGGAGAATGACAGCCTACAATTTTTGAATCCAGAAGCTGCCCCAATTCAGCCCCCAGCACCCCTCTCTGCAGTCCAGAGGCTGAGCCATAGACTGTGGTACTCAGAGTTCTGATGTGCCCTGTCTTGCCCTCAGGCCTGCCGGCTCCCCCCAGTATCATCAAGGCCATGGGTGGGAGCCAGCCAGGGGAACTTCAGATCAGCTGGGAGGAGCCAGCTCCAGAAATCAGTGATTTCCTGAGGTACGAACTCCGCTATGGCCCCAGAGATCCCAAGAACTCCACTGGTCCCACGGTCATACAGCTGATTGCCACAGAAACCTGCTGCCCTGCTCTGCAGAGGCCTCACTCAGCCTCTGCTCTGGACCAGTCTCCATGTGCTCAGCCCACAATGCCCTGGCAAGATGGACCAAAGCAGACCTCCCCAAGTAGAGAAGTATGCTGACCTTCTTCTGCCCCACCTCTTATCTCCTACCTTCAATCTTGCCCCAGGAAAGGACAGACCATACTTTGGGGATTCCAGACCTAGGTTCGTCCTTGGAGAGTTAGTATAGGCTCAGATATGAGCCACGCCTACTTAGGGGCTTCCTACTTTGGGTCATTCCCACTGACAAAAGCAAAGGCTTTCAGGCCTCCAAATTAATGGAGATTTCGCAACAAAACCCTGAACACCACCTGAAACCCACCAACTTAGCCCCTGGTCTGTGTGCATATCTATCCAGCAAGGAGCTGAGCTCCTCTCCACAGAGATGCTGTGCAAATATAAGGGTTGGAGGCTCTCTCAGCTGACAGGCAGACCTAGATTGTGAAGCTGGGATTTTCCTCCCAAGGCTTCAGCTCTGACAGCAGAGGGTGGAAGCTGCCTCATCTCAGGACTCCAGCCTGGCAACTCCTACTGGCTGCAGCTGCGCAGCGAACCTGATGGGATCTCCCTCGGTGGCTCCTGGGGATCCTGGTCCCTCCCTGTGACTGTGGACCTGCCTGGAGATGCAGGTGAGTCAACAAAGGAATAGGGAGATGGGGAGGAGATAAAAGAATATCTCTAGGGAAGCCTGGGCTAGATCTGAAGCTCTGGGAACCATGGTCCTTCCTGATGATCTCGAACTTGCCACTGGACAGGAACTATGTTCAGGGAAAGAAGAGAGAATAGGAGTCAATGTTCTAAGTTATATGTGTAGAAATTATCTGAAATCTGAACACCCTATACAGTAGGGGCACACGGGCCCTGATGGGACTTACTTCTTTGACTTTAGTGGCACTTGGACTGCAATGCTTTACCTTGGACCTGAAGAATGTTACCTGTCAATGGCAGCAACAGGACCATGCTAGCTCCCAAGGCTTCTTCTACCACAGCAGGGCACGGTGCTGCCCCAGAGACAGGTGAGAGCTGAACTGCTGATTGAGGTTGGTGTCATGGGAGTGAGCCACAATCTTGCAGAAAAAAAGAAGAGAGTGTTCTTGGTCCTCTTCACTCTCCTTCCTTTGTCTCCAAACCATACAGCTTTCAATGCTCTCTTATCTATTCTGTCATCCTCCAATCGATATTTT
|
Task1_train_802
|
Gene MPL (MPL proto-oncogene, thrombopoietin receptor), found on Chromosome 1, is impacted by this variant. What is the biological outcome — benign or pathogenic?
|
Pathogenic; Congenital amegakaryocytic thrombocytopenia
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TGCACCCAGCCCCATCCACTGATTCAGAGCAAACAGGATAAAAGTACTGAAGACCATTGCTTCTCCAACTTTAAGTTACATTCAAACCATCTAGGGATTTTGGTAAAATGCAGGTTCTATTTTTGTAGGGGCCAGCTCCACAGGGTCAGTGGGTTTTTCTCCCTGTGTGCAAAGACGAGAGATCATAGAAATAAAGACACAAGACAAAGAGATAAAAGAAAAGACAGCTGGGTCCAGGGGACCACTACCACCAAGACGCGGAAACCAGTAGTGGCCCCGAATGCCAGGCTGCGCAGTTATTTATTGGATACAAGACAAGGGGGCAGGGTAAGGAGTGTGAGCCATCTCCAATCTGAGCAAACAGGATAAAAGTACTGAAGACCATTGCTTCTCCAACTTTAAGTTACATTCAAACCATCTGGGGATTTTGGCAAAATGCAGGTTCAACTTTAATAGGCCTGGGGTGGGGCCTAAGATTCTGCATTTCTAATAAGTGCCCACCTAATGCTGTTGCTCCTGGTCTACAGACCACATTTTGAGTAGCAAGGGATTAGAGGCAGCCGTGGAGGCCACCCATAATGGAGAGGGCATTTCCAGTTCCAGGGAGAATGTGTTTATTCATGCGCAAAGTCACAGAACTATTAAAGTGGAAATACCCACCATTTGGCATGGTTGTGGGGCAGAGAGTTATTTCTCAGCAGATTAGCCTCCCAAGAGCATAGCACAGCATGGCTGTTATGCAGGTGGGTTCTGAAGGTTGACCTCCTGAGCTTTATGTCTTAGTATGTAATCTTGGGCAAATCTTTAACTTCTCTGTATCTCCGTTTCCTCATCTCTATAATGGAAATAACAAGACTATTGTGCGGATTGTCTAAGTGAATGGATATAAAGTGCTTAACACACGGCAGCATAGTAAGTGCTCAGTAAAAGTTGCTATTCTGATGCTATTATACCATTCTATAATCGTTAGCACAGATACAGAGGCTGAGTTGCCTTTTGGTACACGGTCAAATATACAACCCCCATCTCCCTCACACCAAAAGGCCTGTGTCCTCTCTTTCAAATTCCTCCTTCCCTCCTGCCCACTCCCCCTCCCCTGGCCCCTGGCCCCAGTGTGGTCTGGATGGGCCCCAGAGGGGCAGGGACAGGGACAGGACGTGGGGCTGTATCTGACAGGAACCTGAGGGGCTGGCCTGGGAGGGGATTGGGGCCCAGCTTCCTGAAGGGAGGATGGGCTAAGGCAGGCACACAGTGGCGGAGAAGATGCCCTCCTGGGCCCTCTTCATGGTCACCTCCTGCCTCCTCCTGGCCCCTCAAAACCTGGCCCAAGTCAGCAGCCAAGGTGAGGTGCACAGAGGGTGGAGATCACCTATGCCCAGGAAGAGGGAGCCCTGGGAGGTGATGCAGGGCCCCGGGAGGGGAGGTAGAGTAAGAGGCTCTCCTGCTGGTCCCCTCCCCTTCCACATAAACATGCCTGGGAGGACCCAGGGCCAACTCACCAGCTGTTCCTTAGATGTCTCCTTGCTGGCATCAGACTCAGAGCCCCTGAAGTGTTTCTCCCGAACATTTGAGGACCTCACTTGCTTCTGGGATGAGGAAGAGGCAGCGCCCAGTGGGACATACCAGCTGCTGTATGCCTACCCGCGGTAGGTGCTGGACTGTGCCCCACTCCCCATGTATCTGTCCCTGCACTTAGCTGAGTCCCACTCCAGCAGCTTTCCTGCCTGTCCGAGGACCACTCTGAATACAAGCCCTAAGTACCTACTTTTTGAACAGATGTGCTTTGGATGTATGTGGGCCCCAGCTCCAGCCCTACATAACCCCTAATCCCACCTATCCCAGGCAGTGAGAAGAAAAATGGCAGTACTAGAGACAGAAGTTGGGCATGGGCCCAGGTCTGGGTCCTCAGGGCTCCGCATGGTGGCTGTGTAGGAGGGACCTCTTCTATGCCAACAGGGAGAAGCCCCGTGCTTGCCCCCTGAGTTCCCAGAGCATGCCCCACTTTGGAACCCGATACGTGTGCCAGTTTCCAGACCAGGAGGAAGTGCGTCTCTTCTTTCCGCTGCACCTCTGGGTGAAGAATGTGTTCCTAAACCAGACTCGGACTCAGCGAGTCCTCTTTGTGGACAGTGTAGGTAAGAGCCATCCTCCTGTCACCCTGCCCCCTCCACTTGCTGCCCCCAGTCCAGCTCCCGGAATCAGACTTGCCTGTGCCCTTCCAGCTCAGCACGGATACCCCTATTACCAGACCCCCTGAGGCACCCCAAGACTCCCTTGTCATTCCTCCCAGCCTTGGCATCTAGAGCTAGAAATGCCCAACAGATCATTCACACCCTGTTCCTCCCATCGTCAACAAATCATTTATTCATCCATTCAAGAGTTACAGAATACCTACTGTGTGCCAGACACTGGGCTAGGTGATGGGGATATGGAGAGAAAAAGGGATCCCTGCTTACAAGAAGCACTGAGTCTAGCAAGCCATCATACTGCAAAGAAGTCACTGTTCTCATGAGAGAAGAACAGAATCAGGAGCCTCCCTAGCCTGCCCTCCAGGAGAATGACAGCCTACAATTTTTGAATCCAGAAGCTGCCCCAATTCAGCCCCCAGCACCCCTCTCTGCAGTCCAGAGGCTGAGCCATAGACTGTGGTACTCAGAGTTCTGATGTGCCCTGTCTTGCCCTCAGGCCTGCCGGCTCCCCCCAGTATCATCAAGGCCATGGGTGGGAGCCAGCCAGGGGAACTTCAGATCAGCTGGGAGGAGCCAGCTCCAGAAATCAGTGATTTCCTGAGGTACGAACTCCGCTATGGCCCCAGAGATCCCAAGAACTCCACTGGTCCCACGGTCATACAGCTGATTGCCACAGAAACCTGCTGCCCTGCTCTGCAGAGGCCTCACTCAGCCTCTGCTCTGGACCAGTCTCCATGTGCTCAGCCCACAATGCCCTGGCAAGATGGACCAAAGCAGACCTCCCCAAGTAGAGAAGTATGCTGACCTTCTTCTGCCCCACCTCTTATCTCCTACCTTCAATCTTGCCCCAGGAAAGGACAGACCATACTTTGGGGATTCCAGACCTAGGTTCGTCCTTGGAGAGTTAGTATAGGCTCAGATATGAGCCACGCCTACTTAGGGGCTTCCTACTTTGGGTCATTCCCACTGACAAAAGCAAAGGCTTTCAGGCCTCCAAATTAATGGAGATTTCGCAACAAAACCCTGAACACCACCTGAAACCCACCAACTTAGCCCCTGGTCTGTGTGCATATCTATCCAGCAAGGAGCTGAGCTCCTCTCCACAGAGATGCTGTGCAAATATAAGGGTTGGAGGCTCTCTCAGCTGACAGGCAGACCTAGATTGTGAAGCTGGGATTTTCCTCCCAAGGCTTCAGCTCTGACAGCAGAGGGTGGAAGCTGCCTCATCTCAGGACTCCAGCCTGGCAACTCCTACTGGCTGCAGCTGCGCAGCGAACCTGATGGGATCTCCCTCGGTGGCTCCTGGGGATCCTGGTCCCTCCCTGTGACTGTGGACCTGCCTGGAGATGCAGGTGAGTCAACAAAGGAATAGGGAGATGGGGAGGAGATAAAAGAATATCTCTAGGGAAGCCTGGGCTAGATCTGAAGCTCTGGGAACCATGGTCCTTCCTGATGATCTCGAACTTGCCACTGGACAGGAACTATGTTCAGGGAAAGAAGAGAGAATAGGAGTCAATGTTCTAAGTTATATGTGTAGAAATTATCTGAAATCTGAACACCCTATACAGTAGGGGCACACGGGCCCTGATGGGACTTACTTCTTTGACTTTAGTGGCACTTGGACTGCAATGCTTTACCTTGGACCTGAAGAATGTTACCTGTCAATGGCAGCAACAGGACCATGCTAGCTCCCAAGGCTTCTTCTACCACAGCAGGGCACGGTGCTGCCCCAGAGACAGGTGAGAGCTGAACTGCTGATTGAGGTTGGTGTCATGGGAGTGAGCCACAATCTTGCAGAAAAAAAGAAGAGAGTGTTCTTGGTCCTCTTCACTCTCCTTCCTTTGTCTCCAAACCATACAGCTTTCAATGCTCTCTTATCTATTCTGTCATCCTCCAATCGATATTTT
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TGCACCCAGCCCCATCCACTGATTCAGAGCAAACAGGATAAAAGTACTGAAGACCATTGCTTCTCCAACTTTAAGTTACATTCAAACCATCTAGGGATTTTGGTAAAATGCAGGTTCTATTTTTGTAGGGGCCAGCTCCACAGGGTCAGTGGGTTTTTCTCCCTGTGTGCAAAGACGAGAGATCATAGAAATAAAGACACAAGACAAAGAGATAAAAGAAAAGACAGCTGGGTCCAGGGGACCACTACCACCAAGACGCGGAAACCAGTAGTGGCCCCGAATGCCAGGCTGCGCAGTTATTTATTGGATACAAGACAAGGGGGCAGGGTAAGGAGTGTGAGCCATCTCCAATCTGAGCAAACAGGATAAAAGTACTGAAGACCATTGCTTCTCCAACTTTAAGTTACATTCAAACCATCTGGGGATTTTGGCAAAATGCAGGTTCAACTTTAATAGGCCTGGGGTGGGGCCTAAGATTCTGCATTTCTAATAAGTGCCCACCTAATGCTGTTGCTCCTGGTCTACAGACCACATTTTGAGTAGCAAGGGATTAGAGGCAGCCGTGGAGGCCACCCATAATGGAGAGGGCATTTCCAGTTCCAGGGAGAATGTGTTTATTCATGCGCAAAGTCACAGAACTATTAAAGTGGAAATACCCACCATTTGGCATGGTTGTGGGGCAGAGAGTTATTTCTCAGCAGATTAGCCTCCCAAGAGCATAGCACAGCATGGCTGTTATGCAGGTGGGTTCTGAAGGTTGACCTCCTGAGCTTTATGTCTTAGTATGTAATCTTGGGCAAATCTTTAACTTCTCTGTATCTCCGTTTCCTCATCTCTATAATGGAAATAACAAGACTATTGTGCGGATTGTCTAAGTGAATGGATATAAAGTGCTTAACACACGGCAGCATAGTAAGTGCTCAGTAAAAGTTGCTATTCTGATGCTATTATACCATTCTATAATCGTTAGCACAGATACAGAGGCTGAGTTGCCTTTTGGTACACGGTCAAATATACAACCCCCATCTCCCTCACACCAAAAGGCCTGTGTCCTCTCTTTCAAATTCCTCCTTCCCTCCTGCCCACTCCCCCTCCCCTGGCCCCTGGCCCCAGTGTGGTCTGGATGGGCCCCAGAGGGGCAGGGACAGGGACAGGACGTGGGGCTGTATCTGACAGGAACCTGAGGGGCTGGCCTGGGAGGGGATTGGGGCCCAGCTTCCTGAAGGGAGGATGGGCTAAGGCAGGCACACAGTGGCGGAGAAGATGCCCTCCTGGGCCCTCTTCATGGTCACCTCCTGCCTCCTCCTGGCCCCTCAAAACCTGGCCCAAGTCAGCAGCCAAGGTGAGGTGCACAGAGGGTGGAGATCACCTATGCCCAGGAAGAGGGAGCCCTGGGAGGTGATGCAGGGCCCCGGGAGGGGAGGTAGAGTAAGAGGCTCTCCTGCTGGTCCCCTCCCCTTCCACATAAACATGCCTGGGAGGACCCAGGGCCAACTCACCAGCTGTTCCTTAGATGTCTCCTTGCTGGCATCAGACTCAGAGCCCCTGAAGTGTTTCTCCCGAACATTTGAGGACCTCACTTGCTTCTGGGATGAGGAAGAGGCAGCGCCCAGTGGGACATACCAGCTGCTGTATGCCTACCCGCGGTAGGTGCTGGACTGTGCCCCACTCCCCATGTATCTGTCCCTGCACTTAGCTGAGTCCCACTCCAGCAGCTTTCCTGCCTGTCCGAGGACCACTCTGAATACAAGCCCTAAGTACCTACTTTTTGAACAGATGTGCTTTGGATGTATGTGGGCCCCAGCTCCAGCCCTACATAACCCCTAATCCCACCTATCCCAGGCAGTGAGAAGAAAAATGGCAGTACTAGAGACAGAAGTTGGGCATGGGCCCAGGTCTGGGTCCTCAGGGCTCCGCATGGTGGCTGTGTAGGAGGGACCTCTTCTATGCCAACAGGGAGAAGCCCCGTGCTTGCCCCCTGAGTTCCCAGAGCATGCCCCACTTTGGAACCCGATACGTGTGCCAGTTTCCAGACCAGGAGGAAGTGCCTCTCTTCTTTCCGCTGCACCTCTGGGTGAAGAATGTGTTCCTAAACCAGACTCGGACTCAGCGAGTCCTCTTTGTGGACAGTGTAGGTAAGAGCCATCCTCCTGTCACCCTGCCCCCTCCACTTGCTGCCCCCAGTCCAGCTCCCGGAATCAGACTTGCCTGTGCCCTTCCAGCTCAGCACGGATACCCCTATTACCAGACCCCCTGAGGCACCCCAAGACTCCCTTGTCATTCCTCCCAGCCTTGGCATCTAGAGCTAGAAATGCCCAACAGATCATTCACACCCTGTTCCTCCCATCGTCAACAAATCATTTATTCATCCATTCAAGAGTTACAGAATACCTACTGTGTGCCAGACACTGGGCTAGGTGATGGGGATATGGAGAGAAAAAGGGATCCCTGCTTACAAGAAGCACTGAGTCTAGCAAGCCATCATACTGCAAAGAAGTCACTGTTCTCATGAGAGAAGAACAGAATCAGGAGCCTCCCTAGCCTGCCCTCCAGGAGAATGACAGCCTACAATTTTTGAATCCAGAAGCTGCCCCAATTCAGCCCCCAGCACCCCTCTCTGCAGTCCAGAGGCTGAGCCATAGACTGTGGTACTCAGAGTTCTGATGTGCCCTGTCTTGCCCTCAGGCCTGCCGGCTCCCCCCAGTATCATCAAGGCCATGGGTGGGAGCCAGCCAGGGGAACTTCAGATCAGCTGGGAGGAGCCAGCTCCAGAAATCAGTGATTTCCTGAGGTACGAACTCCGCTATGGCCCCAGAGATCCCAAGAACTCCACTGGTCCCACGGTCATACAGCTGATTGCCACAGAAACCTGCTGCCCTGCTCTGCAGAGGCCTCACTCAGCCTCTGCTCTGGACCAGTCTCCATGTGCTCAGCCCACAATGCCCTGGCAAGATGGACCAAAGCAGACCTCCCCAAGTAGAGAAGTATGCTGACCTTCTTCTGCCCCACCTCTTATCTCCTACCTTCAATCTTGCCCCAGGAAAGGACAGACCATACTTTGGGGATTCCAGACCTAGGTTCGTCCTTGGAGAGTTAGTATAGGCTCAGATATGAGCCACGCCTACTTAGGGGCTTCCTACTTTGGGTCATTCCCACTGACAAAAGCAAAGGCTTTCAGGCCTCCAAATTAATGGAGATTTCGCAACAAAACCCTGAACACCACCTGAAACCCACCAACTTAGCCCCTGGTCTGTGTGCATATCTATCCAGCAAGGAGCTGAGCTCCTCTCCACAGAGATGCTGTGCAAATATAAGGGTTGGAGGCTCTCTCAGCTGACAGGCAGACCTAGATTGTGAAGCTGGGATTTTCCTCCCAAGGCTTCAGCTCTGACAGCAGAGGGTGGAAGCTGCCTCATCTCAGGACTCCAGCCTGGCAACTCCTACTGGCTGCAGCTGCGCAGCGAACCTGATGGGATCTCCCTCGGTGGCTCCTGGGGATCCTGGTCCCTCCCTGTGACTGTGGACCTGCCTGGAGATGCAGGTGAGTCAACAAAGGAATAGGGAGATGGGGAGGAGATAAAAGAATATCTCTAGGGAAGCCTGGGCTAGATCTGAAGCTCTGGGAACCATGGTCCTTCCTGATGATCTCGAACTTGCCACTGGACAGGAACTATGTTCAGGGAAAGAAGAGAGAATAGGAGTCAATGTTCTAAGTTATATGTGTAGAAATTATCTGAAATCTGAACACCCTATACAGTAGGGGCACACGGGCCCTGATGGGACTTACTTCTTTGACTTTAGTGGCACTTGGACTGCAATGCTTTACCTTGGACCTGAAGAATGTTACCTGTCAATGGCAGCAACAGGACCATGCTAGCTCCCAAGGCTTCTTCTACCACAGCAGGGCACGGTGCTGCCCCAGAGACAGGTGAGAGCTGAACTGCTGATTGAGGTTGGTGTCATGGGAGTGAGCCACAATCTTGCAGAAAAAAAGAAGAGAGTGTTCTTGGTCCTCTTCACTCTCCTTCCTTTGTCTCCAAACCATACAGCTTTCAATGCTCTCTTATCTATTCTGTCATCCTCCAATCGATATTTT
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Task1_train_803
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This gene mutation involves MPL (MPL proto-oncogene, thrombopoietin receptor) on Chromosome 1. Is it associated with any clinical condition, or is it benign?
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Pathogenic; Congenital amegakaryocytic thrombocytopenia 1
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TGCACCCAGCCCCATCCACTGATTCAGAGCAAACAGGATAAAAGTACTGAAGACCATTGCTTCTCCAACTTTAAGTTACATTCAAACCATCTAGGGATTTTGGTAAAATGCAGGTTCTATTTTTGTAGGGGCCAGCTCCACAGGGTCAGTGGGTTTTTCTCCCTGTGTGCAAAGACGAGAGATCATAGAAATAAAGACACAAGACAAAGAGATAAAAGAAAAGACAGCTGGGTCCAGGGGACCACTACCACCAAGACGCGGAAACCAGTAGTGGCCCCGAATGCCAGGCTGCGCAGTTATTTATTGGATACAAGACAAGGGGGCAGGGTAAGGAGTGTGAGCCATCTCCAATCTGAGCAAACAGGATAAAAGTACTGAAGACCATTGCTTCTCCAACTTTAAGTTACATTCAAACCATCTGGGGATTTTGGCAAAATGCAGGTTCAACTTTAATAGGCCTGGGGTGGGGCCTAAGATTCTGCATTTCTAATAAGTGCCCACCTAATGCTGTTGCTCCTGGTCTACAGACCACATTTTGAGTAGCAAGGGATTAGAGGCAGCCGTGGAGGCCACCCATAATGGAGAGGGCATTTCCAGTTCCAGGGAGAATGTGTTTATTCATGCGCAAAGTCACAGAACTATTAAAGTGGAAATACCCACCATTTGGCATGGTTGTGGGGCAGAGAGTTATTTCTCAGCAGATTAGCCTCCCAAGAGCATAGCACAGCATGGCTGTTATGCAGGTGGGTTCTGAAGGTTGACCTCCTGAGCTTTATGTCTTAGTATGTAATCTTGGGCAAATCTTTAACTTCTCTGTATCTCCGTTTCCTCATCTCTATAATGGAAATAACAAGACTATTGTGCGGATTGTCTAAGTGAATGGATATAAAGTGCTTAACACACGGCAGCATAGTAAGTGCTCAGTAAAAGTTGCTATTCTGATGCTATTATACCATTCTATAATCGTTAGCACAGATACAGAGGCTGAGTTGCCTTTTGGTACACGGTCAAATATACAACCCCCATCTCCCTCACACCAAAAGGCCTGTGTCCTCTCTTTCAAATTCCTCCTTCCCTCCTGCCCACTCCCCCTCCCCTGGCCCCTGGCCCCAGTGTGGTCTGGATGGGCCCCAGAGGGGCAGGGACAGGGACAGGACGTGGGGCTGTATCTGACAGGAACCTGAGGGGCTGGCCTGGGAGGGGATTGGGGCCCAGCTTCCTGAAGGGAGGATGGGCTAAGGCAGGCACACAGTGGCGGAGAAGATGCCCTCCTGGGCCCTCTTCATGGTCACCTCCTGCCTCCTCCTGGCCCCTCAAAACCTGGCCCAAGTCAGCAGCCAAGGTGAGGTGCACAGAGGGTGGAGATCACCTATGCCCAGGAAGAGGGAGCCCTGGGAGGTGATGCAGGGCCCCGGGAGGGGAGGTAGAGTAAGAGGCTCTCCTGCTGGTCCCCTCCCCTTCCACATAAACATGCCTGGGAGGACCCAGGGCCAACTCACCAGCTGTTCCTTAGATGTCTCCTTGCTGGCATCAGACTCAGAGCCCCTGAAGTGTTTCTCCCGAACATTTGAGGACCTCACTTGCTTCTGGGATGAGGAAGAGGCAGCGCCCAGTGGGACATACCAGCTGCTGTATGCCTACCCGCGGTAGGTGCTGGACTGTGCCCCACTCCCCATGTATCTGTCCCTGCACTTAGCTGAGTCCCACTCCAGCAGCTTTCCTGCCTGTCCGAGGACCACTCTGAATACAAGCCCTAAGTACCTACTTTTTGAACAGATGTGCTTTGGATGTATGTGGGCCCCAGCTCCAGCCCTACATAACCCCTAATCCCACCTATCCCAGGCAGTGAGAAGAAAAATGGCAGTACTAGAGACAGAAGTTGGGCATGGGCCCAGGTCTGGGTCCTCAGGGCTCCGCATGGTGGCTGTGTAGGAGGGACCTCTTCTATGCCAACAGGGAGAAGCCCCGTGCTTGCCCCCTGAGTTCCCAGAGCATGCCCCACTTTGGAACCCGATACGTGTGCCAGTTTCCAGACCAGGAGGAAGTGCGTCTCTTCTTTCCGCTGCACCTCTGGGTGAAGAATGTGTTCCTAAACCAGACTCGGACTCAGCGAGTCCTCTTTGTGGACAGTGTAGGTAAGAGCCATCCTCCTGTCACCCTGCCCCCTCCACTTGCTGCCCCCAGTCCAGCTCCCGGAATCAGACTTGCCTGTGCCCTTCCAGCTCAGCACGGATACCCCTATTACCAGACCCCCTGAGGCACCCCAAGACTCCCTTGTCATTCCTCCCAGCCTTGGCATCTAGAGCTAGAAATGCCCAACAGATCATTCACACCCTGTTCCTCCCATCGTCAACAAATCATTTATTCATCCATTCAAGAGTTACAGAATACCTACTGTGTGCCAGACACTGGGCTAGGTGATGGGGATATGGAGAGAAAAAGGGATCCCTGCTTACAAGAAGCACTGAGTCTAGCAAGCCATCATACTGCAAAGAAGTCACTGTTCTCATGAGAGAAGAACAGAATCAGGAGCCTCCCTAGCCTGCCCTCCAGGAGAATGACAGCCTACAATTTTTGAATCCAGAAGCTGCCCCAATTCAGCCCCCAGCACCCCTCTCTGCAGTCCAGAGGCTGAGCCATAGACTGTGGTACTCAGAGTTCTGATGTGCCCTGTCTTGCCCTCAGGCCTGCCGGCTCCCCCCAGTATCATCAAGGCCATGGGTGGGAGCCAGCCAGGGGAACTTCAGATCAGCTGGGAGGAGCCAGCTCCAGAAATCAGTGATTTCCTGAGGTACGAACTCCGCTATGGCCCCAGAGATCCCAAGAACTCCACTGGTCCCACGGTCATACAGCTGATTGCCACAGAAACCTGCTGCCCTGCTCTGCAGAGGCCTCACTCAGCCTCTGCTCTGGACCAGTCTCCATGTGCTCAGCCCACAATGCCCTGGCAAGATGGACCAAAGCAGACCTCCCCAAGTAGAGAAGTATGCTGACCTTCTTCTGCCCCACCTCTTATCTCCTACCTTCAATCTTGCCCCAGGAAAGGACAGACCATACTTTGGGGATTCCAGACCTAGGTTCGTCCTTGGAGAGTTAGTATAGGCTCAGATATGAGCCACGCCTACTTAGGGGCTTCCTACTTTGGGTCATTCCCACTGACAAAAGCAAAGGCTTTCAGGCCTCCAAATTAATGGAGATTTCGCAACAAAACCCTGAACACCACCTGAAACCCACCAACTTAGCCCCTGGTCTGTGTGCATATCTATCCAGCAAGGAGCTGAGCTCCTCTCCACAGAGATGCTGTGCAAATATAAGGGTTGGAGGCTCTCTCAGCTGACAGGCAGACCTAGATTGTGAAGCTGGGATTTTCCTCCCAAGGCTTCAGCTCTGACAGCAGAGGGTGGAAGCTGCCTCATCTCAGGACTCCAGCCTGGCAACTCCTACTGGCTGCAGCTGCGCAGCGAACCTGATGGGATCTCCCTCGGTGGCTCCTGGGGATCCTGGTCCCTCCCTGTGACTGTGGACCTGCCTGGAGATGCAGGTGAGTCAACAAAGGAATAGGGAGATGGGGAGGAGATAAAAGAATATCTCTAGGGAAGCCTGGGCTAGATCTGAAGCTCTGGGAACCATGGTCCTTCCTGATGATCTCGAACTTGCCACTGGACAGGAACTATGTTCAGGGAAAGAAGAGAGAATAGGAGTCAATGTTCTAAGTTATATGTGTAGAAATTATCTGAAATCTGAACACCCTATACAGTAGGGGCACACGGGCCCTGATGGGACTTACTTCTTTGACTTTAGTGGCACTTGGACTGCAATGCTTTACCTTGGACCTGAAGAATGTTACCTGTCAATGGCAGCAACAGGACCATGCTAGCTCCCAAGGCTTCTTCTACCACAGCAGGGCACGGTGCTGCCCCAGAGACAGGTGAGAGCTGAACTGCTGATTGAGGTTGGTGTCATGGGAGTGAGCCACAATCTTGCAGAAAAAAAGAAGAGAGTGTTCTTGGTCCTCTTCACTCTCCTTCCTTTGTCTCCAAACCATACAGCTTTCAATGCTCTCTTATCTATTCTGTCATCCTCCAATCGATATTTT
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TGCACCCAGCCCCATCCACTGATTCAGAGCAAACAGGATAAAAGTACTGAAGACCATTGCTTCTCCAACTTTAAGTTACATTCAAACCATCTAGGGATTTTGGTAAAATGCAGGTTCTATTTTTGTAGGGGCCAGCTCCACAGGGTCAGTGGGTTTTTCTCCCTGTGTGCAAAGACGAGAGATCATAGAAATAAAGACACAAGACAAAGAGATAAAAGAAAAGACAGCTGGGTCCAGGGGACCACTACCACCAAGACGCGGAAACCAGTAGTGGCCCCGAATGCCAGGCTGCGCAGTTATTTATTGGATACAAGACAAGGGGGCAGGGTAAGGAGTGTGAGCCATCTCCAATCTGAGCAAACAGGATAAAAGTACTGAAGACCATTGCTTCTCCAACTTTAAGTTACATTCAAACCATCTGGGGATTTTGGCAAAATGCAGGTTCAACTTTAATAGGCCTGGGGTGGGGCCTAAGATTCTGCATTTCTAATAAGTGCCCACCTAATGCTGTTGCTCCTGGTCTACAGACCACATTTTGAGTAGCAAGGGATTAGAGGCAGCCGTGGAGGCCACCCATAATGGAGAGGGCATTTCCAGTTCCAGGGAGAATGTGTTTATTCATGCGCAAAGTCACAGAACTATTAAAGTGGAAATACCCACCATTTGGCATGGTTGTGGGGCAGAGAGTTATTTCTCAGCAGATTAGCCTCCCAAGAGCATAGCACAGCATGGCTGTTATGCAGGTGGGTTCTGAAGGTTGACCTCCTGAGCTTTATGTCTTAGTATGTAATCTTGGGCAAATCTTTAACTTCTCTGTATCTCCGTTTCCTCATCTCTATAATGGAAATAACAAGACTATTGTGCGGATTGTCTAAGTGAATGGATATAAAGTGCTTAACACACGGCAGCATAGTAAGTGCTCAGTAAAAGTTGCTATTCTGATGCTATTATACCATTCTATAATCGTTAGCACAGATACAGAGGCTGAGTTGCCTTTTGGTACACGGTCAAATATACAACCCCCATCTCCCTCACACCAAAAGGCCTGTGTCCTCTCTTTCAAATTCCTCCTTCCCTCCTGCCCACTCCCCCTCCCCTGGCCCCTGGCCCCAGTGTGGTCTGGATGGGCCCCAGAGGGGCAGGGACAGGGACAGGACGTGGGGCTGTATCTGACAGGAACCTGAGGGGCTGGCCTGGGAGGGGATTGGGGCCCAGCTTCCTGAAGGGAGGATGGGCTAAGGCAGGCACACAGTGGCGGAGAAGATGCCCTCCTGGGCCCTCTTCATGGTCACCTCCTGCCTCCTCCTGGCCCCTCAAAACCTGGCCCAAGTCAGCAGCCAAGGTGAGGTGCACAGAGGGTGGAGATCACCTATGCCCAGGAAGAGGGAGCCCTGGGAGGTGATGCAGGGCCCCGGGAGGGGAGGTAGAGTAAGAGGCTCTCCTGCTGGTCCCCTCCCCTTCCACATAAACATGCCTGGGAGGACCCAGGGCCAACTCACCAGCTGTTCCTTAGATGTCTCCTTGCTGGCATCAGACTCAGAGCCCCTGAAGTGTTTCTCCCGAACATTTGAGGACCTCACTTGCTTCTGGGATGAGGAAGAGGCAGCGCCCAGTGGGACATACCAGCTGCTGTATGCCTACCCGCGGTAGGTGCTGGACTGTGCCCCACTCCCCATGTATCTGTCCCTGCACTTAGCTGAGTCCCACTCCAGCAGCTTTCCTGCCTGTCCGAGGACCACTCTGAATACAAGCCCTAAGTACCTACTTTTTGAACAGATGTGCTTTGGATGTATGTGGGCCCCAGCTCCAGCCCTACATAACCCCTAATCCCACCTATCCCAGGCAGTGAGAAGAAAAATGGCAGTACTAGAGACAGAAGTTGGGCATGGGCCCAGGTCTGGGTCCTCAGGGCTCCGCATGGTGGCTGTGTAGGAGGGACCTCTTCTATGCCAACAGGGAGAAGCCCCGTGCTTGCCCCCTGAGTTCCCAGAGCATGCCCCACTTTGGAACCCGATACGTGTGCCAGTTTCCAGACCAGGAGGAAGTGCCTCTCTTCTTTCCGCTGCACCTCTGGGTGAAGAATGTGTTCCTAAACCAGACTCGGACTCAGCGAGTCCTCTTTGTGGACAGTGTAGGTAAGAGCCATCCTCCTGTCACCCTGCCCCCTCCACTTGCTGCCCCCAGTCCAGCTCCCGGAATCAGACTTGCCTGTGCCCTTCCAGCTCAGCACGGATACCCCTATTACCAGACCCCCTGAGGCACCCCAAGACTCCCTTGTCATTCCTCCCAGCCTTGGCATCTAGAGCTAGAAATGCCCAACAGATCATTCACACCCTGTTCCTCCCATCGTCAACAAATCATTTATTCATCCATTCAAGAGTTACAGAATACCTACTGTGTGCCAGACACTGGGCTAGGTGATGGGGATATGGAGAGAAAAAGGGATCCCTGCTTACAAGAAGCACTGAGTCTAGCAAGCCATCATACTGCAAAGAAGTCACTGTTCTCATGAGAGAAGAACAGAATCAGGAGCCTCCCTAGCCTGCCCTCCAGGAGAATGACAGCCTACAATTTTTGAATCCAGAAGCTGCCCCAATTCAGCCCCCAGCACCCCTCTCTGCAGTCCAGAGGCTGAGCCATAGACTGTGGTACTCAGAGTTCTGATGTGCCCTGTCTTGCCCTCAGGCCTGCCGGCTCCCCCCAGTATCATCAAGGCCATGGGTGGGAGCCAGCCAGGGGAACTTCAGATCAGCTGGGAGGAGCCAGCTCCAGAAATCAGTGATTTCCTGAGGTACGAACTCCGCTATGGCCCCAGAGATCCCAAGAACTCCACTGGTCCCACGGTCATACAGCTGATTGCCACAGAAACCTGCTGCCCTGCTCTGCAGAGGCCTCACTCAGCCTCTGCTCTGGACCAGTCTCCATGTGCTCAGCCCACAATGCCCTGGCAAGATGGACCAAAGCAGACCTCCCCAAGTAGAGAAGTATGCTGACCTTCTTCTGCCCCACCTCTTATCTCCTACCTTCAATCTTGCCCCAGGAAAGGACAGACCATACTTTGGGGATTCCAGACCTAGGTTCGTCCTTGGAGAGTTAGTATAGGCTCAGATATGAGCCACGCCTACTTAGGGGCTTCCTACTTTGGGTCATTCCCACTGACAAAAGCAAAGGCTTTCAGGCCTCCAAATTAATGGAGATTTCGCAACAAAACCCTGAACACCACCTGAAACCCACCAACTTAGCCCCTGGTCTGTGTGCATATCTATCCAGCAAGGAGCTGAGCTCCTCTCCACAGAGATGCTGTGCAAATATAAGGGTTGGAGGCTCTCTCAGCTGACAGGCAGACCTAGATTGTGAAGCTGGGATTTTCCTCCCAAGGCTTCAGCTCTGACAGCAGAGGGTGGAAGCTGCCTCATCTCAGGACTCCAGCCTGGCAACTCCTACTGGCTGCAGCTGCGCAGCGAACCTGATGGGATCTCCCTCGGTGGCTCCTGGGGATCCTGGTCCCTCCCTGTGACTGTGGACCTGCCTGGAGATGCAGGTGAGTCAACAAAGGAATAGGGAGATGGGGAGGAGATAAAAGAATATCTCTAGGGAAGCCTGGGCTAGATCTGAAGCTCTGGGAACCATGGTCCTTCCTGATGATCTCGAACTTGCCACTGGACAGGAACTATGTTCAGGGAAAGAAGAGAGAATAGGAGTCAATGTTCTAAGTTATATGTGTAGAAATTATCTGAAATCTGAACACCCTATACAGTAGGGGCACACGGGCCCTGATGGGACTTACTTCTTTGACTTTAGTGGCACTTGGACTGCAATGCTTTACCTTGGACCTGAAGAATGTTACCTGTCAATGGCAGCAACAGGACCATGCTAGCTCCCAAGGCTTCTTCTACCACAGCAGGGCACGGTGCTGCCCCAGAGACAGGTGAGAGCTGAACTGCTGATTGAGGTTGGTGTCATGGGAGTGAGCCACAATCTTGCAGAAAAAAAGAAGAGAGTGTTCTTGGTCCTCTTCACTCTCCTTCCTTTGTCTCCAAACCATACAGCTTTCAATGCTCTCTTATCTATTCTGTCATCCTCCAATCGATATTTT
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Task1_train_804
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A mutation found in MPL (MPL proto-oncogene, thrombopoietin receptor) on Chromosome 1 may be clinically relevant. Is it pathogenic or benign, and if the former, which disease is implicated?
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Pathogenic; Thrombocytopenia
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TGCACCCAGCCCCATCCACTGATTCAGAGCAAACAGGATAAAAGTACTGAAGACCATTGCTTCTCCAACTTTAAGTTACATTCAAACCATCTAGGGATTTTGGTAAAATGCAGGTTCTATTTTTGTAGGGGCCAGCTCCACAGGGTCAGTGGGTTTTTCTCCCTGTGTGCAAAGACGAGAGATCATAGAAATAAAGACACAAGACAAAGAGATAAAAGAAAAGACAGCTGGGTCCAGGGGACCACTACCACCAAGACGCGGAAACCAGTAGTGGCCCCGAATGCCAGGCTGCGCAGTTATTTATTGGATACAAGACAAGGGGGCAGGGTAAGGAGTGTGAGCCATCTCCAATCTGAGCAAACAGGATAAAAGTACTGAAGACCATTGCTTCTCCAACTTTAAGTTACATTCAAACCATCTGGGGATTTTGGCAAAATGCAGGTTCAACTTTAATAGGCCTGGGGTGGGGCCTAAGATTCTGCATTTCTAATAAGTGCCCACCTAATGCTGTTGCTCCTGGTCTACAGACCACATTTTGAGTAGCAAGGGATTAGAGGCAGCCGTGGAGGCCACCCATAATGGAGAGGGCATTTCCAGTTCCAGGGAGAATGTGTTTATTCATGCGCAAAGTCACAGAACTATTAAAGTGGAAATACCCACCATTTGGCATGGTTGTGGGGCAGAGAGTTATTTCTCAGCAGATTAGCCTCCCAAGAGCATAGCACAGCATGGCTGTTATGCAGGTGGGTTCTGAAGGTTGACCTCCTGAGCTTTATGTCTTAGTATGTAATCTTGGGCAAATCTTTAACTTCTCTGTATCTCCGTTTCCTCATCTCTATAATGGAAATAACAAGACTATTGTGCGGATTGTCTAAGTGAATGGATATAAAGTGCTTAACACACGGCAGCATAGTAAGTGCTCAGTAAAAGTTGCTATTCTGATGCTATTATACCATTCTATAATCGTTAGCACAGATACAGAGGCTGAGTTGCCTTTTGGTACACGGTCAAATATACAACCCCCATCTCCCTCACACCAAAAGGCCTGTGTCCTCTCTTTCAAATTCCTCCTTCCCTCCTGCCCACTCCCCCTCCCCTGGCCCCTGGCCCCAGTGTGGTCTGGATGGGCCCCAGAGGGGCAGGGACAGGGACAGGACGTGGGGCTGTATCTGACAGGAACCTGAGGGGCTGGCCTGGGAGGGGATTGGGGCCCAGCTTCCTGAAGGGAGGATGGGCTAAGGCAGGCACACAGTGGCGGAGAAGATGCCCTCCTGGGCCCTCTTCATGGTCACCTCCTGCCTCCTCCTGGCCCCTCAAAACCTGGCCCAAGTCAGCAGCCAAGGTGAGGTGCACAGAGGGTGGAGATCACCTATGCCCAGGAAGAGGGAGCCCTGGGAGGTGATGCAGGGCCCCGGGAGGGGAGGTAGAGTAAGAGGCTCTCCTGCTGGTCCCCTCCCCTTCCACATAAACATGCCTGGGAGGACCCAGGGCCAACTCACCAGCTGTTCCTTAGATGTCTCCTTGCTGGCATCAGACTCAGAGCCCCTGAAGTGTTTCTCCCGAACATTTGAGGACCTCACTTGCTTCTGGGATGAGGAAGAGGCAGCGCCCAGTGGGACATACCAGCTGCTGTATGCCTACCCGCGGTAGGTGCTGGACTGTGCCCCACTCCCCATGTATCTGTCCCTGCACTTAGCTGAGTCCCACTCCAGCAGCTTTCCTGCCTGTCCGAGGACCACTCTGAATACAAGCCCTAAGTACCTACTTTTTGAACAGATGTGCTTTGGATGTATGTGGGCCCCAGCTCCAGCCCTACATAACCCCTAATCCCACCTATCCCAGGCAGTGAGAAGAAAAATGGCAGTACTAGAGACAGAAGTTGGGCATGGGCCCAGGTCTGGGTCCTCAGGGCTCCGCATGGTGGCTGTGTAGGAGGGACCTCTTCTATGCCAACAGGGAGAAGCCCCGTGCTTGCCCCCTGAGTTCCCAGAGCATGCCCCACTTTGGAACCCGATACGTGTGCCAGTTTCCAGACCAGGAGGAAGTGCGTCTCTTCTTTCCGCTGCACCTCTGGGTGAAGAATGTGTTCCTAAACCAGACTCGGACTCAGCGAGTCCTCTTTGTGGACAGTGTAGGTAAGAGCCATCCTCCTGTCACCCTGCCCCCTCCACTTGCTGCCCCCAGTCCAGCTCCCGGAATCAGACTTGCCTGTGCCCTTCCAGCTCAGCACGGATACCCCTATTACCAGACCCCCTGAGGCACCCCAAGACTCCCTTGTCATTCCTCCCAGCCTTGGCATCTAGAGCTAGAAATGCCCAACAGATCATTCACACCCTGTTCCTCCCATCGTCAACAAATCATTTATTCATCCATTCAAGAGTTACAGAATACCTACTGTGTGCCAGACACTGGGCTAGGTGATGGGGATATGGAGAGAAAAAGGGATCCCTGCTTACAAGAAGCACTGAGTCTAGCAAGCCATCATACTGCAAAGAAGTCACTGTTCTCATGAGAGAAGAACAGAATCAGGAGCCTCCCTAGCCTGCCCTCCAGGAGAATGACAGCCTACAATTTTTGAATCCAGAAGCTGCCCCAATTCAGCCCCCAGCACCCCTCTCTGCAGTCCAGAGGCTGAGCCATAGACTGTGGTACTCAGAGTTCTGATGTGCCCTGTCTTGCCCTCAGGCCTGCCGGCTCCCCCCAGTATCATCAAGGCCATGGGTGGGAGCCAGCCAGGGGAACTTCAGATCAGCTGGGAGGAGCCAGCTCCAGAAATCAGTGATTTCCTGAGGTACGAACTCCGCTATGGCCCCAGAGATCCCAAGAACTCCACTGGTCCCACGGTCATACAGCTGATTGCCACAGAAACCTGCTGCCCTGCTCTGCAGAGGCCTCACTCAGCCTCTGCTCTGGACCAGTCTCCATGTGCTCAGCCCACAATGCCCTGGCAAGATGGACCAAAGCAGACCTCCCCAAGTAGAGAAGTATGCTGACCTTCTTCTGCCCCACCTCTTATCTCCTACCTTCAATCTTGCCCCAGGAAAGGACAGACCATACTTTGGGGATTCCAGACCTAGGTTCGTCCTTGGAGAGTTAGTATAGGCTCAGATATGAGCCACGCCTACTTAGGGGCTTCCTACTTTGGGTCATTCCCACTGACAAAAGCAAAGGCTTTCAGGCCTCCAAATTAATGGAGATTTCGCAACAAAACCCTGAACACCACCTGAAACCCACCAACTTAGCCCCTGGTCTGTGTGCATATCTATCCAGCAAGGAGCTGAGCTCCTCTCCACAGAGATGCTGTGCAAATATAAGGGTTGGAGGCTCTCTCAGCTGACAGGCAGACCTAGATTGTGAAGCTGGGATTTTCCTCCCAAGGCTTCAGCTCTGACAGCAGAGGGTGGAAGCTGCCTCATCTCAGGACTCCAGCCTGGCAACTCCTACTGGCTGCAGCTGCGCAGCGAACCTGATGGGATCTCCCTCGGTGGCTCCTGGGGATCCTGGTCCCTCCCTGTGACTGTGGACCTGCCTGGAGATGCAGGTGAGTCAACAAAGGAATAGGGAGATGGGGAGGAGATAAAAGAATATCTCTAGGGAAGCCTGGGCTAGATCTGAAGCTCTGGGAACCATGGTCCTTCCTGATGATCTCGAACTTGCCACTGGACAGGAACTATGTTCAGGGAAAGAAGAGAGAATAGGAGTCAATGTTCTAAGTTATATGTGTAGAAATTATCTGAAATCTGAACACCCTATACAGTAGGGGCACACGGGCCCTGATGGGACTTACTTCTTTGACTTTAGTGGCACTTGGACTGCAATGCTTTACCTTGGACCTGAAGAATGTTACCTGTCAATGGCAGCAACAGGACCATGCTAGCTCCCAAGGCTTCTTCTACCACAGCAGGGCACGGTGCTGCCCCAGAGACAGGTGAGAGCTGAACTGCTGATTGAGGTTGGTGTCATGGGAGTGAGCCACAATCTTGCAGAAAAAAAGAAGAGAGTGTTCTTGGTCCTCTTCACTCTCCTTCCTTTGTCTCCAAACCATACAGCTTTCAATGCTCTCTTATCTATTCTGTCATCCTCCAATCGATATTTT
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TGCACCCAGCCCCATCCACTGATTCAGAGCAAACAGGATAAAAGTACTGAAGACCATTGCTTCTCCAACTTTAAGTTACATTCAAACCATCTAGGGATTTTGGTAAAATGCAGGTTCTATTTTTGTAGGGGCCAGCTCCACAGGGTCAGTGGGTTTTTCTCCCTGTGTGCAAAGACGAGAGATCATAGAAATAAAGACACAAGACAAAGAGATAAAAGAAAAGACAGCTGGGTCCAGGGGACCACTACCACCAAGACGCGGAAACCAGTAGTGGCCCCGAATGCCAGGCTGCGCAGTTATTTATTGGATACAAGACAAGGGGGCAGGGTAAGGAGTGTGAGCCATCTCCAATCTGAGCAAACAGGATAAAAGTACTGAAGACCATTGCTTCTCCAACTTTAAGTTACATTCAAACCATCTGGGGATTTTGGCAAAATGCAGGTTCAACTTTAATAGGCCTGGGGTGGGGCCTAAGATTCTGCATTTCTAATAAGTGCCCACCTAATGCTGTTGCTCCTGGTCTACAGACCACATTTTGAGTAGCAAGGGATTAGAGGCAGCCGTGGAGGCCACCCATAATGGAGAGGGCATTTCCAGTTCCAGGGAGAATGTGTTTATTCATGCGCAAAGTCACAGAACTATTAAAGTGGAAATACCCACCATTTGGCATGGTTGTGGGGCAGAGAGTTATTTCTCAGCAGATTAGCCTCCCAAGAGCATAGCACAGCATGGCTGTTATGCAGGTGGGTTCTGAAGGTTGACCTCCTGAGCTTTATGTCTTAGTATGTAATCTTGGGCAAATCTTTAACTTCTCTGTATCTCCGTTTCCTCATCTCTATAATGGAAATAACAAGACTATTGTGCGGATTGTCTAAGTGAATGGATATAAAGTGCTTAACACACGGCAGCATAGTAAGTGCTCAGTAAAAGTTGCTATTCTGATGCTATTATACCATTCTATAATCGTTAGCACAGATACAGAGGCTGAGTTGCCTTTTGGTACACGGTCAAATATACAACCCCCATCTCCCTCACACCAAAAGGCCTGTGTCCTCTCTTTCAAATTCCTCCTTCCCTCCTGCCCACTCCCCCTCCCCTGGCCCCTGGCCCCAGTGTGGTCTGGATGGGCCCCAGAGGGGCAGGGACAGGGACAGGACGTGGGGCTGTATCTGACAGGAACCTGAGGGGCTGGCCTGGGAGGGGATTGGGGCCCAGCTTCCTGAAGGGAGGATGGGCTAAGGCAGGCACACAGTGGCGGAGAAGATGCCCTCCTGGGCCCTCTTCATGGTCACCTCCTGCCTCCTCCTGGCCCCTCAAAACCTGGCCCAAGTCAGCAGCCAAGGTGAGGTGCACAGAGGGTGGAGATCACCTATGCCCAGGAAGAGGGAGCCCTGGGAGGTGATGCAGGGCCCCGGGAGGGGAGGTAGAGTAAGAGGCTCTCCTGCTGGTCCCCTCCCCTTCCACATAAACATGCCTGGGAGGACCCAGGGCCAACTCACCAGCTGTTCCTTAGATGTCTCCTTGCTGGCATCAGACTCAGAGCCCCTGAAGTGTTTCTCCCGAACATTTGAGGACCTCACTTGCTTCTGGGATGAGGAAGAGGCAGCGCCCAGTGGGACATACCAGCTGCTGTATGCCTACCCGCGGTAGGTGCTGGACTGTGCCCCACTCCCCATGTATCTGTCCCTGCACTTAGCTGAGTCCCACTCCAGCAGCTTTCCTGCCTGTCCGAGGACCACTCTGAATACAAGCCCTAAGTACCTACTTTTTGAACAGATGTGCTTTGGATGTATGTGGGCCCCAGCTCCAGCCCTACATAACCCCTAATCCCACCTATCCCAGGCAGTGAGAAGAAAAATGGCAGTACTAGAGACAGAAGTTGGGCATGGGCCCAGGTCTGGGTCCTCAGGGCTCCGCATGGTGGCTGTGTAGGAGGGACCTCTTCTATGCCAACAGGGAGAAGCCCCGTGCTTGCCCCCTGAGTTCCCAGAGCATGCCCCACTTTGGAACCCGATACGTGTGCCAGTTTCCAGACCAGGAGGAAGTGCCTCTCTTCTTTCCGCTGCACCTCTGGGTGAAGAATGTGTTCCTAAACCAGACTCGGACTCAGCGAGTCCTCTTTGTGGACAGTGTAGGTAAGAGCCATCCTCCTGTCACCCTGCCCCCTCCACTTGCTGCCCCCAGTCCAGCTCCCGGAATCAGACTTGCCTGTGCCCTTCCAGCTCAGCACGGATACCCCTATTACCAGACCCCCTGAGGCACCCCAAGACTCCCTTGTCATTCCTCCCAGCCTTGGCATCTAGAGCTAGAAATGCCCAACAGATCATTCACACCCTGTTCCTCCCATCGTCAACAAATCATTTATTCATCCATTCAAGAGTTACAGAATACCTACTGTGTGCCAGACACTGGGCTAGGTGATGGGGATATGGAGAGAAAAAGGGATCCCTGCTTACAAGAAGCACTGAGTCTAGCAAGCCATCATACTGCAAAGAAGTCACTGTTCTCATGAGAGAAGAACAGAATCAGGAGCCTCCCTAGCCTGCCCTCCAGGAGAATGACAGCCTACAATTTTTGAATCCAGAAGCTGCCCCAATTCAGCCCCCAGCACCCCTCTCTGCAGTCCAGAGGCTGAGCCATAGACTGTGGTACTCAGAGTTCTGATGTGCCCTGTCTTGCCCTCAGGCCTGCCGGCTCCCCCCAGTATCATCAAGGCCATGGGTGGGAGCCAGCCAGGGGAACTTCAGATCAGCTGGGAGGAGCCAGCTCCAGAAATCAGTGATTTCCTGAGGTACGAACTCCGCTATGGCCCCAGAGATCCCAAGAACTCCACTGGTCCCACGGTCATACAGCTGATTGCCACAGAAACCTGCTGCCCTGCTCTGCAGAGGCCTCACTCAGCCTCTGCTCTGGACCAGTCTCCATGTGCTCAGCCCACAATGCCCTGGCAAGATGGACCAAAGCAGACCTCCCCAAGTAGAGAAGTATGCTGACCTTCTTCTGCCCCACCTCTTATCTCCTACCTTCAATCTTGCCCCAGGAAAGGACAGACCATACTTTGGGGATTCCAGACCTAGGTTCGTCCTTGGAGAGTTAGTATAGGCTCAGATATGAGCCACGCCTACTTAGGGGCTTCCTACTTTGGGTCATTCCCACTGACAAAAGCAAAGGCTTTCAGGCCTCCAAATTAATGGAGATTTCGCAACAAAACCCTGAACACCACCTGAAACCCACCAACTTAGCCCCTGGTCTGTGTGCATATCTATCCAGCAAGGAGCTGAGCTCCTCTCCACAGAGATGCTGTGCAAATATAAGGGTTGGAGGCTCTCTCAGCTGACAGGCAGACCTAGATTGTGAAGCTGGGATTTTCCTCCCAAGGCTTCAGCTCTGACAGCAGAGGGTGGAAGCTGCCTCATCTCAGGACTCCAGCCTGGCAACTCCTACTGGCTGCAGCTGCGCAGCGAACCTGATGGGATCTCCCTCGGTGGCTCCTGGGGATCCTGGTCCCTCCCTGTGACTGTGGACCTGCCTGGAGATGCAGGTGAGTCAACAAAGGAATAGGGAGATGGGGAGGAGATAAAAGAATATCTCTAGGGAAGCCTGGGCTAGATCTGAAGCTCTGGGAACCATGGTCCTTCCTGATGATCTCGAACTTGCCACTGGACAGGAACTATGTTCAGGGAAAGAAGAGAGAATAGGAGTCAATGTTCTAAGTTATATGTGTAGAAATTATCTGAAATCTGAACACCCTATACAGTAGGGGCACACGGGCCCTGATGGGACTTACTTCTTTGACTTTAGTGGCACTTGGACTGCAATGCTTTACCTTGGACCTGAAGAATGTTACCTGTCAATGGCAGCAACAGGACCATGCTAGCTCCCAAGGCTTCTTCTACCACAGCAGGGCACGGTGCTGCCCCAGAGACAGGTGAGAGCTGAACTGCTGATTGAGGTTGGTGTCATGGGAGTGAGCCACAATCTTGCAGAAAAAAAGAAGAGAGTGTTCTTGGTCCTCTTCACTCTCCTTCCTTTGTCTCCAAACCATACAGCTTTCAATGCTCTCTTATCTATTCTGTCATCCTCCAATCGATATTTT
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Task1_train_805
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A mutation in MPL (MPL proto-oncogene, thrombopoietin receptor), located on Chromosome 1, is being studied. Determine whether it’s pathogenic or benign, and specify the linked disease.
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Pathogenic; Essential thrombocythemia
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TGCACCCAGCCCCATCCACTGATTCAGAGCAAACAGGATAAAAGTACTGAAGACCATTGCTTCTCCAACTTTAAGTTACATTCAAACCATCTAGGGATTTTGGTAAAATGCAGGTTCTATTTTTGTAGGGGCCAGCTCCACAGGGTCAGTGGGTTTTTCTCCCTGTGTGCAAAGACGAGAGATCATAGAAATAAAGACACAAGACAAAGAGATAAAAGAAAAGACAGCTGGGTCCAGGGGACCACTACCACCAAGACGCGGAAACCAGTAGTGGCCCCGAATGCCAGGCTGCGCAGTTATTTATTGGATACAAGACAAGGGGGCAGGGTAAGGAGTGTGAGCCATCTCCAATCTGAGCAAACAGGATAAAAGTACTGAAGACCATTGCTTCTCCAACTTTAAGTTACATTCAAACCATCTGGGGATTTTGGCAAAATGCAGGTTCAACTTTAATAGGCCTGGGGTGGGGCCTAAGATTCTGCATTTCTAATAAGTGCCCACCTAATGCTGTTGCTCCTGGTCTACAGACCACATTTTGAGTAGCAAGGGATTAGAGGCAGCCGTGGAGGCCACCCATAATGGAGAGGGCATTTCCAGTTCCAGGGAGAATGTGTTTATTCATGCGCAAAGTCACAGAACTATTAAAGTGGAAATACCCACCATTTGGCATGGTTGTGGGGCAGAGAGTTATTTCTCAGCAGATTAGCCTCCCAAGAGCATAGCACAGCATGGCTGTTATGCAGGTGGGTTCTGAAGGTTGACCTCCTGAGCTTTATGTCTTAGTATGTAATCTTGGGCAAATCTTTAACTTCTCTGTATCTCCGTTTCCTCATCTCTATAATGGAAATAACAAGACTATTGTGCGGATTGTCTAAGTGAATGGATATAAAGTGCTTAACACACGGCAGCATAGTAAGTGCTCAGTAAAAGTTGCTATTCTGATGCTATTATACCATTCTATAATCGTTAGCACAGATACAGAGGCTGAGTTGCCTTTTGGTACACGGTCAAATATACAACCCCCATCTCCCTCACACCAAAAGGCCTGTGTCCTCTCTTTCAAATTCCTCCTTCCCTCCTGCCCACTCCCCCTCCCCTGGCCCCTGGCCCCAGTGTGGTCTGGATGGGCCCCAGAGGGGCAGGGACAGGGACAGGACGTGGGGCTGTATCTGACAGGAACCTGAGGGGCTGGCCTGGGAGGGGATTGGGGCCCAGCTTCCTGAAGGGAGGATGGGCTAAGGCAGGCACACAGTGGCGGAGAAGATGCCCTCCTGGGCCCTCTTCATGGTCACCTCCTGCCTCCTCCTGGCCCCTCAAAACCTGGCCCAAGTCAGCAGCCAAGGTGAGGTGCACAGAGGGTGGAGATCACCTATGCCCAGGAAGAGGGAGCCCTGGGAGGTGATGCAGGGCCCCGGGAGGGGAGGTAGAGTAAGAGGCTCTCCTGCTGGTCCCCTCCCCTTCCACATAAACATGCCTGGGAGGACCCAGGGCCAACTCACCAGCTGTTCCTTAGATGTCTCCTTGCTGGCATCAGACTCAGAGCCCCTGAAGTGTTTCTCCCGAACATTTGAGGACCTCACTTGCTTCTGGGATGAGGAAGAGGCAGCGCCCAGTGGGACATACCAGCTGCTGTATGCCTACCCGCGGTAGGTGCTGGACTGTGCCCCACTCCCCATGTATCTGTCCCTGCACTTAGCTGAGTCCCACTCCAGCAGCTTTCCTGCCTGTCCGAGGACCACTCTGAATACAAGCCCTAAGTACCTACTTTTTGAACAGATGTGCTTTGGATGTATGTGGGCCCCAGCTCCAGCCCTACATAACCCCTAATCCCACCTATCCCAGGCAGTGAGAAGAAAAATGGCAGTACTAGAGACAGAAGTTGGGCATGGGCCCAGGTCTGGGTCCTCAGGGCTCCGCATGGTGGCTGTGTAGGAGGGACCTCTTCTATGCCAACAGGGAGAAGCCCCGTGCTTGCCCCCTGAGTTCCCAGAGCATGCCCCACTTTGGAACCCGATACGTGTGCCAGTTTCCAGACCAGGAGGAAGTGCGTCTCTTCTTTCCGCTGCACCTCTGGGTGAAGAATGTGTTCCTAAACCAGACTCGGACTCAGCGAGTCCTCTTTGTGGACAGTGTAGGTAAGAGCCATCCTCCTGTCACCCTGCCCCCTCCACTTGCTGCCCCCAGTCCAGCTCCCGGAATCAGACTTGCCTGTGCCCTTCCAGCTCAGCACGGATACCCCTATTACCAGACCCCCTGAGGCACCCCAAGACTCCCTTGTCATTCCTCCCAGCCTTGGCATCTAGAGCTAGAAATGCCCAACAGATCATTCACACCCTGTTCCTCCCATCGTCAACAAATCATTTATTCATCCATTCAAGAGTTACAGAATACCTACTGTGTGCCAGACACTGGGCTAGGTGATGGGGATATGGAGAGAAAAAGGGATCCCTGCTTACAAGAAGCACTGAGTCTAGCAAGCCATCATACTGCAAAGAAGTCACTGTTCTCATGAGAGAAGAACAGAATCAGGAGCCTCCCTAGCCTGCCCTCCAGGAGAATGACAGCCTACAATTTTTGAATCCAGAAGCTGCCCCAATTCAGCCCCCAGCACCCCTCTCTGCAGTCCAGAGGCTGAGCCATAGACTGTGGTACTCAGAGTTCTGATGTGCCCTGTCTTGCCCTCAGGCCTGCCGGCTCCCCCCAGTATCATCAAGGCCATGGGTGGGAGCCAGCCAGGGGAACTTCAGATCAGCTGGGAGGAGCCAGCTCCAGAAATCAGTGATTTCCTGAGGTACGAACTCCGCTATGGCCCCAGAGATCCCAAGAACTCCACTGGTCCCACGGTCATACAGCTGATTGCCACAGAAACCTGCTGCCCTGCTCTGCAGAGGCCTCACTCAGCCTCTGCTCTGGACCAGTCTCCATGTGCTCAGCCCACAATGCCCTGGCAAGATGGACCAAAGCAGACCTCCCCAAGTAGAGAAGTATGCTGACCTTCTTCTGCCCCACCTCTTATCTCCTACCTTCAATCTTGCCCCAGGAAAGGACAGACCATACTTTGGGGATTCCAGACCTAGGTTCGTCCTTGGAGAGTTAGTATAGGCTCAGATATGAGCCACGCCTACTTAGGGGCTTCCTACTTTGGGTCATTCCCACTGACAAAAGCAAAGGCTTTCAGGCCTCCAAATTAATGGAGATTTCGCAACAAAACCCTGAACACCACCTGAAACCCACCAACTTAGCCCCTGGTCTGTGTGCATATCTATCCAGCAAGGAGCTGAGCTCCTCTCCACAGAGATGCTGTGCAAATATAAGGGTTGGAGGCTCTCTCAGCTGACAGGCAGACCTAGATTGTGAAGCTGGGATTTTCCTCCCAAGGCTTCAGCTCTGACAGCAGAGGGTGGAAGCTGCCTCATCTCAGGACTCCAGCCTGGCAACTCCTACTGGCTGCAGCTGCGCAGCGAACCTGATGGGATCTCCCTCGGTGGCTCCTGGGGATCCTGGTCCCTCCCTGTGACTGTGGACCTGCCTGGAGATGCAGGTGAGTCAACAAAGGAATAGGGAGATGGGGAGGAGATAAAAGAATATCTCTAGGGAAGCCTGGGCTAGATCTGAAGCTCTGGGAACCATGGTCCTTCCTGATGATCTCGAACTTGCCACTGGACAGGAACTATGTTCAGGGAAAGAAGAGAGAATAGGAGTCAATGTTCTAAGTTATATGTGTAGAAATTATCTGAAATCTGAACACCCTATACAGTAGGGGCACACGGGCCCTGATGGGACTTACTTCTTTGACTTTAGTGGCACTTGGACTGCAATGCTTTACCTTGGACCTGAAGAATGTTACCTGTCAATGGCAGCAACAGGACCATGCTAGCTCCCAAGGCTTCTTCTACCACAGCAGGGCACGGTGCTGCCCCAGAGACAGGTGAGAGCTGAACTGCTGATTGAGGTTGGTGTCATGGGAGTGAGCCACAATCTTGCAGAAAAAAAGAAGAGAGTGTTCTTGGTCCTCTTCACTCTCCTTCCTTTGTCTCCAAACCATACAGCTTTCAATGCTCTCTTATCTATTCTGTCATCCTCCAATCGATATTTT
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TGCACCCAGCCCCATCCACTGATTCAGAGCAAACAGGATAAAAGTACTGAAGACCATTGCTTCTCCAACTTTAAGTTACATTCAAACCATCTAGGGATTTTGGTAAAATGCAGGTTCTATTTTTGTAGGGGCCAGCTCCACAGGGTCAGTGGGTTTTTCTCCCTGTGTGCAAAGACGAGAGATCATAGAAATAAAGACACAAGACAAAGAGATAAAAGAAAAGACAGCTGGGTCCAGGGGACCACTACCACCAAGACGCGGAAACCAGTAGTGGCCCCGAATGCCAGGCTGCGCAGTTATTTATTGGATACAAGACAAGGGGGCAGGGTAAGGAGTGTGAGCCATCTCCAATCTGAGCAAACAGGATAAAAGTACTGAAGACCATTGCTTCTCCAACTTTAAGTTACATTCAAACCATCTGGGGATTTTGGCAAAATGCAGGTTCAACTTTAATAGGCCTGGGGTGGGGCCTAAGATTCTGCATTTCTAATAAGTGCCCACCTAATGCTGTTGCTCCTGGTCTACAGACCACATTTTGAGTAGCAAGGGATTAGAGGCAGCCGTGGAGGCCACCCATAATGGAGAGGGCATTTCCAGTTCCAGGGAGAATGTGTTTATTCATGCGCAAAGTCACAGAACTATTAAAGTGGAAATACCCACCATTTGGCATGGTTGTGGGGCAGAGAGTTATTTCTCAGCAGATTAGCCTCCCAAGAGCATAGCACAGCATGGCTGTTATGCAGGTGGGTTCTGAAGGTTGACCTCCTGAGCTTTATGTCTTAGTATGTAATCTTGGGCAAATCTTTAACTTCTCTGTATCTCCGTTTCCTCATCTCTATAATGGAAATAACAAGACTATTGTGCGGATTGTCTAAGTGAATGGATATAAAGTGCTTAACACACGGCAGCATAGTAAGTGCTCAGTAAAAGTTGCTATTCTGATGCTATTATACCATTCTATAATCGTTAGCACAGATACAGAGGCTGAGTTGCCTTTTGGTACACGGTCAAATATACAACCCCCATCTCCCTCACACCAAAAGGCCTGTGTCCTCTCTTTCAAATTCCTCCTTCCCTCCTGCCCACTCCCCCTCCCCTGGCCCCTGGCCCCAGTGTGGTCTGGATGGGCCCCAGAGGGGCAGGGACAGGGACAGGACGTGGGGCTGTATCTGACAGGAACCTGAGGGGCTGGCCTGGGAGGGGATTGGGGCCCAGCTTCCTGAAGGGAGGATGGGCTAAGGCAGGCACACAGTGGCGGAGAAGATGCCCTCCTGGGCCCTCTTCATGGTCACCTCCTGCCTCCTCCTGGCCCCTCAAAACCTGGCCCAAGTCAGCAGCCAAGGTGAGGTGCACAGAGGGTGGAGATCACCTATGCCCAGGAAGAGGGAGCCCTGGGAGGTGATGCAGGGCCCCGGGAGGGGAGGTAGAGTAAGAGGCTCTCCTGCTGGTCCCCTCCCCTTCCACATAAACATGCCTGGGAGGACCCAGGGCCAACTCACCAGCTGTTCCTTAGATGTCTCCTTGCTGGCATCAGACTCAGAGCCCCTGAAGTGTTTCTCCCGAACATTTGAGGACCTCACTTGCTTCTGGGATGAGGAAGAGGCAGCGCCCAGTGGGACATACCAGCTGCTGTATGCCTACCCGCGGTAGGTGCTGGACTGTGCCCCACTCCCCATGTATCTGTCCCTGCACTTAGCTGAGTCCCACTCCAGCAGCTTTCCTGCCTGTCCGAGGACCACTCTGAATACAAGCCCTAAGTACCTACTTTTTGAACAGATGTGCTTTGGATGTATGTGGGCCCCAGCTCCAGCCCTACATAACCCCTAATCCCACCTATCCCAGGCAGTGAGAAGAAAAATGGCAGTACTAGAGACAGAAGTTGGGCATGGGCCCAGGTCTGGGTCCTCAGGGCTCCGCATGGTGGCTGTGTAGGAGGGACCTCTTCTATGCCAACAGGGAGAAGCCCCGTGCTTGCCCCCTGAGTTCCCAGAGCATGCCCCACTTTGGAACCCGATACGTGTGCCAGTTTCCAGACCAGGAGGAAGTGCCTCTCTTCTTTCCGCTGCACCTCTGGGTGAAGAATGTGTTCCTAAACCAGACTCGGACTCAGCGAGTCCTCTTTGTGGACAGTGTAGGTAAGAGCCATCCTCCTGTCACCCTGCCCCCTCCACTTGCTGCCCCCAGTCCAGCTCCCGGAATCAGACTTGCCTGTGCCCTTCCAGCTCAGCACGGATACCCCTATTACCAGACCCCCTGAGGCACCCCAAGACTCCCTTGTCATTCCTCCCAGCCTTGGCATCTAGAGCTAGAAATGCCCAACAGATCATTCACACCCTGTTCCTCCCATCGTCAACAAATCATTTATTCATCCATTCAAGAGTTACAGAATACCTACTGTGTGCCAGACACTGGGCTAGGTGATGGGGATATGGAGAGAAAAAGGGATCCCTGCTTACAAGAAGCACTGAGTCTAGCAAGCCATCATACTGCAAAGAAGTCACTGTTCTCATGAGAGAAGAACAGAATCAGGAGCCTCCCTAGCCTGCCCTCCAGGAGAATGACAGCCTACAATTTTTGAATCCAGAAGCTGCCCCAATTCAGCCCCCAGCACCCCTCTCTGCAGTCCAGAGGCTGAGCCATAGACTGTGGTACTCAGAGTTCTGATGTGCCCTGTCTTGCCCTCAGGCCTGCCGGCTCCCCCCAGTATCATCAAGGCCATGGGTGGGAGCCAGCCAGGGGAACTTCAGATCAGCTGGGAGGAGCCAGCTCCAGAAATCAGTGATTTCCTGAGGTACGAACTCCGCTATGGCCCCAGAGATCCCAAGAACTCCACTGGTCCCACGGTCATACAGCTGATTGCCACAGAAACCTGCTGCCCTGCTCTGCAGAGGCCTCACTCAGCCTCTGCTCTGGACCAGTCTCCATGTGCTCAGCCCACAATGCCCTGGCAAGATGGACCAAAGCAGACCTCCCCAAGTAGAGAAGTATGCTGACCTTCTTCTGCCCCACCTCTTATCTCCTACCTTCAATCTTGCCCCAGGAAAGGACAGACCATACTTTGGGGATTCCAGACCTAGGTTCGTCCTTGGAGAGTTAGTATAGGCTCAGATATGAGCCACGCCTACTTAGGGGCTTCCTACTTTGGGTCATTCCCACTGACAAAAGCAAAGGCTTTCAGGCCTCCAAATTAATGGAGATTTCGCAACAAAACCCTGAACACCACCTGAAACCCACCAACTTAGCCCCTGGTCTGTGTGCATATCTATCCAGCAAGGAGCTGAGCTCCTCTCCACAGAGATGCTGTGCAAATATAAGGGTTGGAGGCTCTCTCAGCTGACAGGCAGACCTAGATTGTGAAGCTGGGATTTTCCTCCCAAGGCTTCAGCTCTGACAGCAGAGGGTGGAAGCTGCCTCATCTCAGGACTCCAGCCTGGCAACTCCTACTGGCTGCAGCTGCGCAGCGAACCTGATGGGATCTCCCTCGGTGGCTCCTGGGGATCCTGGTCCCTCCCTGTGACTGTGGACCTGCCTGGAGATGCAGGTGAGTCAACAAAGGAATAGGGAGATGGGGAGGAGATAAAAGAATATCTCTAGGGAAGCCTGGGCTAGATCTGAAGCTCTGGGAACCATGGTCCTTCCTGATGATCTCGAACTTGCCACTGGACAGGAACTATGTTCAGGGAAAGAAGAGAGAATAGGAGTCAATGTTCTAAGTTATATGTGTAGAAATTATCTGAAATCTGAACACCCTATACAGTAGGGGCACACGGGCCCTGATGGGACTTACTTCTTTGACTTTAGTGGCACTTGGACTGCAATGCTTTACCTTGGACCTGAAGAATGTTACCTGTCAATGGCAGCAACAGGACCATGCTAGCTCCCAAGGCTTCTTCTACCACAGCAGGGCACGGTGCTGCCCCAGAGACAGGTGAGAGCTGAACTGCTGATTGAGGTTGGTGTCATGGGAGTGAGCCACAATCTTGCAGAAAAAAAGAAGAGAGTGTTCTTGGTCCTCTTCACTCTCCTTCCTTTGTCTCCAAACCATACAGCTTTCAATGCTCTCTTATCTATTCTGTCATCCTCCAATCGATATTTT
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Task1_train_806
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This mutation is located in gene MPL (MPL proto-oncogene, thrombopoietin receptor) on Chromosome 1. Is it associated with a disease or is it a benign polymorphism?
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Pathogenic; Congenital amegakaryocytic thrombocytopenia
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TGCACCCAGCCCCATCCACTGATTCAGAGCAAACAGGATAAAAGTACTGAAGACCATTGCTTCTCCAACTTTAAGTTACATTCAAACCATCTAGGGATTTTGGTAAAATGCAGGTTCTATTTTTGTAGGGGCCAGCTCCACAGGGTCAGTGGGTTTTTCTCCCTGTGTGCAAAGACGAGAGATCATAGAAATAAAGACACAAGACAAAGAGATAAAAGAAAAGACAGCTGGGTCCAGGGGACCACTACCACCAAGACGCGGAAACCAGTAGTGGCCCCGAATGCCAGGCTGCGCAGTTATTTATTGGATACAAGACAAGGGGGCAGGGTAAGGAGTGTGAGCCATCTCCAATCTGAGCAAACAGGATAAAAGTACTGAAGACCATTGCTTCTCCAACTTTAAGTTACATTCAAACCATCTGGGGATTTTGGCAAAATGCAGGTTCAACTTTAATAGGCCTGGGGTGGGGCCTAAGATTCTGCATTTCTAATAAGTGCCCACCTAATGCTGTTGCTCCTGGTCTACAGACCACATTTTGAGTAGCAAGGGATTAGAGGCAGCCGTGGAGGCCACCCATAATGGAGAGGGCATTTCCAGTTCCAGGGAGAATGTGTTTATTCATGCGCAAAGTCACAGAACTATTAAAGTGGAAATACCCACCATTTGGCATGGTTGTGGGGCAGAGAGTTATTTCTCAGCAGATTAGCCTCCCAAGAGCATAGCACAGCATGGCTGTTATGCAGGTGGGTTCTGAAGGTTGACCTCCTGAGCTTTATGTCTTAGTATGTAATCTTGGGCAAATCTTTAACTTCTCTGTATCTCCGTTTCCTCATCTCTATAATGGAAATAACAAGACTATTGTGCGGATTGTCTAAGTGAATGGATATAAAGTGCTTAACACACGGCAGCATAGTAAGTGCTCAGTAAAAGTTGCTATTCTGATGCTATTATACCATTCTATAATCGTTAGCACAGATACAGAGGCTGAGTTGCCTTTTGGTACACGGTCAAATATACAACCCCCATCTCCCTCACACCAAAAGGCCTGTGTCCTCTCTTTCAAATTCCTCCTTCCCTCCTGCCCACTCCCCCTCCCCTGGCCCCTGGCCCCAGTGTGGTCTGGATGGGCCCCAGAGGGGCAGGGACAGGGACAGGACGTGGGGCTGTATCTGACAGGAACCTGAGGGGCTGGCCTGGGAGGGGATTGGGGCCCAGCTTCCTGAAGGGAGGATGGGCTAAGGCAGGCACACAGTGGCGGAGAAGATGCCCTCCTGGGCCCTCTTCATGGTCACCTCCTGCCTCCTCCTGGCCCCTCAAAACCTGGCCCAAGTCAGCAGCCAAGGTGAGGTGCACAGAGGGTGGAGATCACCTATGCCCAGGAAGAGGGAGCCCTGGGAGGTGATGCAGGGCCCCGGGAGGGGAGGTAGAGTAAGAGGCTCTCCTGCTGGTCCCCTCCCCTTCCACATAAACATGCCTGGGAGGACCCAGGGCCAACTCACCAGCTGTTCCTTAGATGTCTCCTTGCTGGCATCAGACTCAGAGCCCCTGAAGTGTTTCTCCCGAACATTTGAGGACCTCACTTGCTTCTGGGATGAGGAAGAGGCAGCGCCCAGTGGGACATACCAGCTGCTGTATGCCTACCCGCGGTAGGTGCTGGACTGTGCCCCACTCCCCATGTATCTGTCCCTGCACTTAGCTGAGTCCCACTCCAGCAGCTTTCCTGCCTGTCCGAGGACCACTCTGAATACAAGCCCTAAGTACCTACTTTTTGAACAGATGTGCTTTGGATGTATGTGGGCCCCAGCTCCAGCCCTACATAACCCCTAATCCCACCTATCCCAGGCAGTGAGAAGAAAAATGGCAGTACTAGAGACAGAAGTTGGGCATGGGCCCAGGTCTGGGTCCTCAGGGCTCCGCATGGTGGCTGTGTAGGAGGGACCTCTTCTATGCCAACAGGGAGAAGCCCCGTGCTTGCCCCCTGAGTTCCCAGAGCATGCCCCACTTTGGAACCCGATACGTGTGCCAGTTTCCAGACCAGGAGGAAGTGCGTCTCTTCTTTCCGCTGCACCTCTGGGTGAAGAATGTGTTCCTAAACCAGACTCGGACTCAGCGAGTCCTCTTTGTGGACAGTGTAGGTAAGAGCCATCCTCCTGTCACCCTGCCCCCTCCACTTGCTGCCCCCAGTCCAGCTCCCGGAATCAGACTTGCCTGTGCCCTTCCAGCTCAGCACGGATACCCCTATTACCAGACCCCCTGAGGCACCCCAAGACTCCCTTGTCATTCCTCCCAGCCTTGGCATCTAGAGCTAGAAATGCCCAACAGATCATTCACACCCTGTTCCTCCCATCGTCAACAAATCATTTATTCATCCATTCAAGAGTTACAGAATACCTACTGTGTGCCAGACACTGGGCTAGGTGATGGGGATATGGAGAGAAAAAGGGATCCCTGCTTACAAGAAGCACTGAGTCTAGCAAGCCATCATACTGCAAAGAAGTCACTGTTCTCATGAGAGAAGAACAGAATCAGGAGCCTCCCTAGCCTGCCCTCCAGGAGAATGACAGCCTACAATTTTTGAATCCAGAAGCTGCCCCAATTCAGCCCCCAGCACCCCTCTCTGCAGTCCAGAGGCTGAGCCATAGACTGTGGTACTCAGAGTTCTGATGTGCCCTGTCTTGCCCTCAGGCCTGCCGGCTCCCCCCAGTATCATCAAGGCCATGGGTGGGAGCCAGCCAGGGGAACTTCAGATCAGCTGGGAGGAGCCAGCTCCAGAAATCAGTGATTTCCTGAGGTACGAACTCCGCTATGGCCCCAGAGATCCCAAGAACTCCACTGGTCCCACGGTCATACAGCTGATTGCCACAGAAACCTGCTGCCCTGCTCTGCAGAGGCCTCACTCAGCCTCTGCTCTGGACCAGTCTCCATGTGCTCAGCCCACAATGCCCTGGCAAGATGGACCAAAGCAGACCTCCCCAAGTAGAGAAGTATGCTGACCTTCTTCTGCCCCACCTCTTATCTCCTACCTTCAATCTTGCCCCAGGAAAGGACAGACCATACTTTGGGGATTCCAGACCTAGGTTCGTCCTTGGAGAGTTAGTATAGGCTCAGATATGAGCCACGCCTACTTAGGGGCTTCCTACTTTGGGTCATTCCCACTGACAAAAGCAAAGGCTTTCAGGCCTCCAAATTAATGGAGATTTCGCAACAAAACCCTGAACACCACCTGAAACCCACCAACTTAGCCCCTGGTCTGTGTGCATATCTATCCAGCAAGGAGCTGAGCTCCTCTCCACAGAGATGCTGTGCAAATATAAGGGTTGGAGGCTCTCTCAGCTGACAGGCAGACCTAGATTGTGAAGCTGGGATTTTCCTCCCAAGGCTTCAGCTCTGACAGCAGAGGGTGGAAGCTGCCTCATCTCAGGACTCCAGCCTGGCAACTCCTACTGGCTGCAGCTGCGCAGCGAACCTGATGGGATCTCCCTCGGTGGCTCCTGGGGATCCTGGTCCCTCCCTGTGACTGTGGACCTGCCTGGAGATGCAGGTGAGTCAACAAAGGAATAGGGAGATGGGGAGGAGATAAAAGAATATCTCTAGGGAAGCCTGGGCTAGATCTGAAGCTCTGGGAACCATGGTCCTTCCTGATGATCTCGAACTTGCCACTGGACAGGAACTATGTTCAGGGAAAGAAGAGAGAATAGGAGTCAATGTTCTAAGTTATATGTGTAGAAATTATCTGAAATCTGAACACCCTATACAGTAGGGGCACACGGGCCCTGATGGGACTTACTTCTTTGACTTTAGTGGCACTTGGACTGCAATGCTTTACCTTGGACCTGAAGAATGTTACCTGTCAATGGCAGCAACAGGACCATGCTAGCTCCCAAGGCTTCTTCTACCACAGCAGGGCACGGTGCTGCCCCAGAGACAGGTGAGAGCTGAACTGCTGATTGAGGTTGGTGTCATGGGAGTGAGCCACAATCTTGCAGAAAAAAAGAAGAGAGTGTTCTTGGTCCTCTTCACTCTCCTTCCTTTGTCTCCAAACCATACAGCTTTCAATGCTCTCTTATCTATTCTGTCATCCTCCAATCGATATTTT
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TGCACCCAGCCCCATCCACTGATTCAGAGCAAACAGGATAAAAGTACTGAAGACCATTGCTTCTCCAACTTTAAGTTACATTCAAACCATCTAGGGATTTTGGTAAAATGCAGGTTCTATTTTTGTAGGGGCCAGCTCCACAGGGTCAGTGGGTTTTTCTCCCTGTGTGCAAAGACGAGAGATCATAGAAATAAAGACACAAGACAAAGAGATAAAAGAAAAGACAGCTGGGTCCAGGGGACCACTACCACCAAGACGCGGAAACCAGTAGTGGCCCCGAATGCCAGGCTGCGCAGTTATTTATTGGATACAAGACAAGGGGGCAGGGTAAGGAGTGTGAGCCATCTCCAATCTGAGCAAACAGGATAAAAGTACTGAAGACCATTGCTTCTCCAACTTTAAGTTACATTCAAACCATCTGGGGATTTTGGCAAAATGCAGGTTCAACTTTAATAGGCCTGGGGTGGGGCCTAAGATTCTGCATTTCTAATAAGTGCCCACCTAATGCTGTTGCTCCTGGTCTACAGACCACATTTTGAGTAGCAAGGGATTAGAGGCAGCCGTGGAGGCCACCCATAATGGAGAGGGCATTTCCAGTTCCAGGGAGAATGTGTTTATTCATGCGCAAAGTCACAGAACTATTAAAGTGGAAATACCCACCATTTGGCATGGTTGTGGGGCAGAGAGTTATTTCTCAGCAGATTAGCCTCCCAAGAGCATAGCACAGCATGGCTGTTATGCAGGTGGGTTCTGAAGGTTGACCTCCTGAGCTTTATGTCTTAGTATGTAATCTTGGGCAAATCTTTAACTTCTCTGTATCTCCGTTTCCTCATCTCTATAATGGAAATAACAAGACTATTGTGCGGATTGTCTAAGTGAATGGATATAAAGTGCTTAACACACGGCAGCATAGTAAGTGCTCAGTAAAAGTTGCTATTCTGATGCTATTATACCATTCTATAATCGTTAGCACAGATACAGAGGCTGAGTTGCCTTTTGGTACACGGTCAAATATACAACCCCCATCTCCCTCACACCAAAAGGCCTGTGTCCTCTCTTTCAAATTCCTCCTTCCCTCCTGCCCACTCCCCCTCCCCTGGCCCCTGGCCCCAGTGTGGTCTGGATGGGCCCCAGAGGGGCAGGGACAGGGACAGGACGTGGGGCTGTATCTGACAGGAACCTGAGGGGCTGGCCTGGGAGGGGATTGGGGCCCAGCTTCCTGAAGGGAGGATGGGCTAAGGCAGGCACACAGTGGCGGAGAAGATGCCCTCCTGGGCCCTCTTCATGGTCACCTCCTGCCTCCTCCTGGCCCCTCAAAACCTGGCCCAAGTCAGCAGCCAAGGTGAGGTGCACAGAGGGTGGAGATCACCTATGCCCAGGAAGAGGGAGCCCTGGGAGGTGATGCAGGGCCCCGGGAGGGGAGGTAGAGTAAGAGGCTCTCCTGCTGGTCCCCTCCCCTTCCACATAAACATGCCTGGGAGGACCCAGGGCCAACTCACCAGCTGTTCCTTAGATGTCTCCTTGCTGGCATCAGACTCAGAGCCCCTGAAGTGTTTCTCCCGAACATTTGAGGACCTCACTTGCTTCTGGGATGAGGAAGAGGCAGCGCCCAGTGGGACATACCAGCTGCTGTATGCCTACCCGCGGTAGGTGCTGGACTGTGCCCCACTCCCCATGTATCTGTCCCTGCACTTAGCTGAGTCCCACTCCAGCAGCTTTCCTGCCTGTCCGAGGACCACTCTGAATACAAGCCCTAAGTACCTACTTTTTGAACAGATGTGCTTTGGATGTATGTGGGCCCCAGCTCCAGCCCTACATAACCCCTAATCCCACCTATCCCAGGCAGTGAGAAGAAAAATGGCAGTACTAGAGACAGAAGTTGGGCATGGGCCCAGGTCTGGGTCCTCAGGGCTCCGCATGGTGGCTGTGTAGGAGGGACCTCTTCTATGCCAACAGGGAGAAGCCCCGTGCTTGCCCCCTGAGTTCCCAGAGCATGCCCCACTTTGGAACCCGATACGTGTGCCAGTTTCCAGACCAGGAGGAAGTGCCTCTCTTCTTTCCGCTGCACCTCTGGGTGAAGAATGTGTTCCTAAACCAGACTCGGACTCAGCGAGTCCTCTTTGTGGACAGTGTAGGTAAGAGCCATCCTCCTGTCACCCTGCCCCCTCCACTTGCTGCCCCCAGTCCAGCTCCCGGAATCAGACTTGCCTGTGCCCTTCCAGCTCAGCACGGATACCCCTATTACCAGACCCCCTGAGGCACCCCAAGACTCCCTTGTCATTCCTCCCAGCCTTGGCATCTAGAGCTAGAAATGCCCAACAGATCATTCACACCCTGTTCCTCCCATCGTCAACAAATCATTTATTCATCCATTCAAGAGTTACAGAATACCTACTGTGTGCCAGACACTGGGCTAGGTGATGGGGATATGGAGAGAAAAAGGGATCCCTGCTTACAAGAAGCACTGAGTCTAGCAAGCCATCATACTGCAAAGAAGTCACTGTTCTCATGAGAGAAGAACAGAATCAGGAGCCTCCCTAGCCTGCCCTCCAGGAGAATGACAGCCTACAATTTTTGAATCCAGAAGCTGCCCCAATTCAGCCCCCAGCACCCCTCTCTGCAGTCCAGAGGCTGAGCCATAGACTGTGGTACTCAGAGTTCTGATGTGCCCTGTCTTGCCCTCAGGCCTGCCGGCTCCCCCCAGTATCATCAAGGCCATGGGTGGGAGCCAGCCAGGGGAACTTCAGATCAGCTGGGAGGAGCCAGCTCCAGAAATCAGTGATTTCCTGAGGTACGAACTCCGCTATGGCCCCAGAGATCCCAAGAACTCCACTGGTCCCACGGTCATACAGCTGATTGCCACAGAAACCTGCTGCCCTGCTCTGCAGAGGCCTCACTCAGCCTCTGCTCTGGACCAGTCTCCATGTGCTCAGCCCACAATGCCCTGGCAAGATGGACCAAAGCAGACCTCCCCAAGTAGAGAAGTATGCTGACCTTCTTCTGCCCCACCTCTTATCTCCTACCTTCAATCTTGCCCCAGGAAAGGACAGACCATACTTTGGGGATTCCAGACCTAGGTTCGTCCTTGGAGAGTTAGTATAGGCTCAGATATGAGCCACGCCTACTTAGGGGCTTCCTACTTTGGGTCATTCCCACTGACAAAAGCAAAGGCTTTCAGGCCTCCAAATTAATGGAGATTTCGCAACAAAACCCTGAACACCACCTGAAACCCACCAACTTAGCCCCTGGTCTGTGTGCATATCTATCCAGCAAGGAGCTGAGCTCCTCTCCACAGAGATGCTGTGCAAATATAAGGGTTGGAGGCTCTCTCAGCTGACAGGCAGACCTAGATTGTGAAGCTGGGATTTTCCTCCCAAGGCTTCAGCTCTGACAGCAGAGGGTGGAAGCTGCCTCATCTCAGGACTCCAGCCTGGCAACTCCTACTGGCTGCAGCTGCGCAGCGAACCTGATGGGATCTCCCTCGGTGGCTCCTGGGGATCCTGGTCCCTCCCTGTGACTGTGGACCTGCCTGGAGATGCAGGTGAGTCAACAAAGGAATAGGGAGATGGGGAGGAGATAAAAGAATATCTCTAGGGAAGCCTGGGCTAGATCTGAAGCTCTGGGAACCATGGTCCTTCCTGATGATCTCGAACTTGCCACTGGACAGGAACTATGTTCAGGGAAAGAAGAGAGAATAGGAGTCAATGTTCTAAGTTATATGTGTAGAAATTATCTGAAATCTGAACACCCTATACAGTAGGGGCACACGGGCCCTGATGGGACTTACTTCTTTGACTTTAGTGGCACTTGGACTGCAATGCTTTACCTTGGACCTGAAGAATGTTACCTGTCAATGGCAGCAACAGGACCATGCTAGCTCCCAAGGCTTCTTCTACCACAGCAGGGCACGGTGCTGCCCCAGAGACAGGTGAGAGCTGAACTGCTGATTGAGGTTGGTGTCATGGGAGTGAGCCACAATCTTGCAGAAAAAAAGAAGAGAGTGTTCTTGGTCCTCTTCACTCTCCTTCCTTTGTCTCCAAACCATACAGCTTTCAATGCTCTCTTATCTATTCTGTCATCCTCCAATCGATATTTT
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Task1_train_807
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Assess the clinical impact of this variant on gene MPL (MPL proto-oncogene, thrombopoietin receptor), found on Chromosome 1. State whether it’s pathogenic or benign, and the disease if applicable.
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Pathogenic; Congenital amegakaryocytic thrombocytopenia
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CGGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCCAAGGTGGGCAGATCACTTGAGGTCAGGAGTTCGAGACCAGCCTGGCCAACATGGCGAAACGCCATCTCTACTAAAAATACAGAAATTAGTCAGGTGTGGTGGTGGGTGCCTGTAATCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATCGCTTGGACCCAAGAGGCAGAGGCTGCAGTGAGCTGAGATCGTACCATTGCACTCCAGCCTGGGCAACAAAGCAAGACTGTCTCAAAACATTTTTAAAAATAAATAAAGTGGAAAGGGTTCCAGCATTGTTGGGGCTTACATTAGTAGAGGGGAGGGGAAAAGGAGGGGGAGAAAAGTAAGTAAAGAAATAAAGGAACAAAGTTATAATAGAGACTAAAGGGGGGCGTGTGGTGGGTGGGGGGTGGGTGTTGCTAATTTAGACTGAGTGGCCAGGAAAAGCCTCACCAGGGAGGTGACAGATAAGCCGAGATCTAAATGGCAAGAAGGAATGAGTCACATGAAGACCTACAGTCAGAGCAATCCAGGGCAAAGGCAAAGTGCAAAGATAGCACATTTGGCATATCTATGGCACAGAAAGAAGGCCTGTGCGGATGAAGGGTGATAAACTGGCATGAGAATCATAAGAGATGAGAATGGCAAGGCAAGGAGAAACCAAATCACAGAGTCCTGTAGGCCTGGTAAGGGGTTTGGGTTTTATTCCAAGTGGGATGAAGAGCCACTGAAGGATTTTAAGCAGTAAACAATGACAATTTGACTTACATTTTTAAAAGATATGTTTCTCTGTGAATAAATAAATAAGAGTAGAAGCAGAATCACCAGTCAGAAATTTGCCTTAATCCAAGCAAGGAATGATAGTGGCTTCATCTAACATAGCAGTGGTAAAGATCAAAATCAATAGTTTGTGACATTATATTCTGGACATTATCACATCAACATTTTTGGAAACAAATTCTGGTAGCTGTGTGGAGAACAACTTGAAGGTAGTGGCAAAAACAGAAGCAGAAAAGCCAGTTAGGAGACTATTGTCATAATCTAATAGCAAAATAACACATAGGGGAGAGTAGGAGGAATGACGTATGAGAACACGTTAAAAATAGAGGATATTTTTCTCCAGAAAGATGAGGGTTCTTTAATCTTTGAAACAATCCTGTGAGGTTGGTATCATTAACCCATTTTACAAATAGAAGGAAACTGGAGCAGAGATAAACCAAGTAATTTGCCCAAAGTTACACAAAGGTAAGCCAAGACCTCAACTCTTGGTGAAAACCCATGCTGTTTTCACATATCATGCCAGGTCTTTCCTCAAAGGGAAGAGGCCAGACAACAAAGCTGACTTCAGAAAACATCATGGCAAAATAGCAAAAACAAACGAACAAATGAACAAAGGAAAAAACAAAAAGAAAACATCATGGCATAAAGACAGAGGGAAAGCTCTGGAGGCCCCTGGAAGGAAGGAGTTAAATGATAATCCCTGCAGGCCATCGTTCTTGTAGGATGGGAAGCCTTGGGATTAGTCTCTGGGGCAGGCCTGATTCAATGACTCTGTGGGGCTGGGTCTTAGGTACCCCATCTGGGAGAACTGCGAAGAGGAAGAGAAAACAAATCCAGGACTACAGACCCCACAGTTCTCTCGCTGCCACTTCAAGTCACGAAATGACAGCATTATTCACATCCTTGTGGAGGTGACCACAGCCCCGGGTACTGTTCACAGCTACCTGGGCTCCCCTTTCTGGATCCACCAGGCTGGTAAGAACTTTCTTCCTCATTCTTCCCACATAGTTCCCACCCCCACTGAATCTGACCCTGTGCCCAGGATCCCCAACTCTGACCCTTCTGACCGATGGCTCTGGTGGCACAATGCCTTGTGCACAGAAGGACTTAAGCTGCTCCCTGCTGACATCCCTGTAGTGCGCCTCCCCACCCCAAACTTGCACTGGAGGGAGATCTCCAGTGGGCATCTGGAATTGGAGTGGCAGCACCCATCGTCCTGGGCAGCCCAAGAGACCTGTTATCAACTCCGATACACAGGAGAAGGCCATCAGGACTGGAAGGTATGGTCAAGCAACAAATGCCCACAGACCTCACTACGCAGGGGATCCCTGGGGTTGGCCATGCCTGTTAGCAGGAGTGAAAGTGTCTATGTATCCAGTCTCTGCTAGTATATCTATGTTTATCAGATTCAACTGGTATCTTAGTCTCTCTTGGGCATCTGATATTTCTGGCTACTCCTACTTAACATTTCTCTTCCCTTTGTCTTTGGGATATCAGTCTTCCCCGATTTTCCTCCTACCTCTCTGACTGAACTTTCTCACTCTCCTCTCCTGGCTCCTCCTTTCCAGCCTTCCACAAAATGCTGTGCTTCCTAGAGTCTCATCCTAGGCTCTTTTCTCCTCTGATAAAATAAATATGTTCTCCCCAGGTGAGTGCTTTAACTCCATGGTTTCAATGTCCATACATTAACAATCGCAATTTTACCATTCTAACTCCCATATGGAAAGGAATTTACAAACCACAGGCAAATTACCAAAATGTTTGAAGTCTGTTTCCTCATTGGTGAAATGAGGATGAAGCTATCTACCTTATGGAGTTATAGTAAAGATTAAATACTATATCTAAATACCTAGCATACTGCCTGGCATAAGGAAGGTGCTCAATATACATTACTTAAATATTAGTTTGTCTACTTTTATTCTCATTTGCCACACATATATACAACTATGTACAACATCTTATGGTTCTACCAAAACTTCCTCCCCCTGGACATTTCAGACTCAGTCTATCCAGAATGGAACTCCTCTTCCTCCTGAAGCTTTACTTTTTTATTGTGATAAAACTTACATACAACAAAGTGTACAAATTTTACATATATAGTCTGTACTTGTGTATACATCCACATAACCATAACCAGGATCAAGATATAAATTATTTCCAGCACCTCAGAAGCTCCCAATGCTCCGACACATCCCCCGCCACCAAAGGTAATCACCATCCTGACATTACCATTGATTCATTTGGACTGTTGTTGAACTCTATAAAATGGAACCCTAAAGTATATCTTCCTCAAACTTACTTCTCTTCTGTGTCCTGTCTCTGACAATGGCACCGCTACTTACCCAGTACCCAAGCCTAGAAGCACCCTTGACTCTTCTTGCTCTTCCCTTATCCCTTCCCCTTACTCATCAACTAAGTTGATGGCAATAACGTACTAATAGTCCTCAAATTCCTACCAGGATTGCCTTAGACTCATCTGTGACCATCCAGCCGTGTCATCCATGCTTTTAGCACACTAAACTACTCTGTGGCACAAAACCAAGCATTAAATGCTTCTCTGGACTTCCGTGGTGCCTTGCACTAATTAATTGTTGTGATTATTTACCTGTTTGGATGTCTTTCTCATTAGATATGTAAGAGACGGTGTTTTATTGCTTTCTCCCCAGTGCCTAACCCAATGTTTGGAGTATCACACAGTTCATAAATGTTTGCTGCCTTCCTGCTTGTACACATGATGCTTGTACCCCAGCGCCTAACGCAAATCTGGCATCCTCTGCAGCATGAGTATTATTTGTGGCATGGTCTGTGTGGCTCTGAATATATCTGTTTCTGGGGGTGTCCATCGCCCGACCTGGAGTTGTGAGAACACCCGGTAGGGTGTGCGTGTACCGGGATCCCTGCCGAGGGTGTACCTGGGTGTTGGTGTTAGGATACGTAGCTCTCTGAGGTGAGGTCTGTGTCTCAGGAGGTGGGCCTGGCACGTTTCTCTCGGGCAGAGCGTGATCCCGTTAGGGAGAGGCTCTCGGTTAGGGCGCTCTATCCTGTTGCTGGGAAGCGTGTTTTCTGCCGGTGGGGCTCTTTGTGGGAATCTCCGACCGCCTGGGGATTCGGAGCTGCAGGATTTGGGTCAAACAGACGCTGGGCTATCGAAGCCCCGACGCCGGGCCACCGCACGCTTCTTTGCTCAGGTGCTGGAGCCGCCTCTCGGGGCCCGAGGAGGGACCCTGGAGCTGCGCCCGCGATCTCGCTACCGTTTACAGCTGCGCGCCAGGCTCAACGGCCCCACCTACCAAGGT
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CGGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCCAAGGTGGGCAGATCACTTGAGGTCAGGAGTTCGAGACCAGCCTGGCCAACATGGCGAAACGCCATCTCTACTAAAAATACAGAAATTAGTCAGGTGTGGTGGTGGGTGCCTGTAATCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATCGCTTGGACCCAAGAGGCAGAGGCTGCAGTGAGCTGAGATCGTACCATTGCACTCCAGCCTGGGCAACAAAGCAAGACTGTCTCAAAACATTTTTAAAAATAAATAAAGTGGAAAGGGTTCCAGCATTGTTGGGGCTTACATTAGTAGAGGGGAGGGGAAAAGGAGGGGGAGAAAAGTAAGTAAAGAAATAAAGGAACAAAGTTATAATAGAGACTAAAGGGGGGCGTGTGGTGGGTGGGGGGTGGGTGTTGCTAATTTAGACTGAGTGGCCAGGAAAAGCCTCACCAGGGAGGTGACAGATAAGCCGAGATCTAAATGGCAAGAAGGAATGAGTCACATGAAGACCTACAGTCAGAGCAATCCAGGGCAAAGGCAAAGTGCAAAGATAGCACATTTGGCATATCTATGGCACAGAAAGAAGGCCTGTGCGGATGAAGGGTGATAAACTGGCATGAGAATCATAAGAGATGAGAATGGCAAGGCAAGGAGAAACCAAATCACAGAGTCCTGTAGGCCTGGTAAGGGGTTTGGGTTTTATTCCAAGTGGGATGAAGAGCCACTGAAGGATTTTAAGCAGTAAACAATGACAATTTGACTTACATTTTTAAAAGATATGTTTCTCTGTGAATAAATAAATAAGAGTAGAAGCAGAATCACCAGTCAGAAATTTGCCTTAATCCAAGCAAGGAATGATAGTGGCTTCATCTAACATAGCAGTGGTAAAGATCAAAATCAATAGTTTGTGACATTATATTCTGGACATTATCACATCAACATTTTTGGAAACAAATTCTGGTAGCTGTGTGGAGAACAACTTGAAGGTAGTGGCAAAAACAGAAGCAGAAAAGCCAGTTAGGAGACTATTGTCATAATCTAATAGCAAAATAACACATAGGGGAGAGTAGGAGGAATGACGTATGAGAACACGTTAAAAATAGAGGATATTTTTCTCCAGAAAGATGAGGGTTCTTTAATCTTTGAAACAATCCTGTGAGGTTGGTATCATTAACCCATTTTACAAATAGAAGGAAACTGGAGCAGAGATAAACCAAGTAATTTGCCCAAAGTTACACAAAGGTAAGCCAAGACCTCAACTCTTGGTGAAAACCCATGCTGTTTTCACATATCATGCCAGGTCTTTCCTCAAAGGGAAGAGGCCAGACAACAAAGCTGACTTCAGAAAACATCATGGCAAAATAGCAAAAACAAACGAACAAATGAACAAAGGAAAAAACAAAAAGAAAACATCATGGCATAAAGACAGAGGGAAAGCTCTGGAGGCCCCTGGAAGGAAGGAGTTAAATGATAATCCCTGCAGGCCATCGTTCTTGTAGGATGGGAAGCCTTGGGATTAGTCTCTGGGGCAGGCCTGATTCAATGACTCTGTGGGGCTGGGTCTTAGGTACCCCATCTGGGAGAACTGCGAAGAGGAAGAGAAAACAAATCCAGGACTACAGACCCCACAGTTCTCTCGCTGCCACTTCAAGTCACGAAATGACAGCATTATTCACATCCTTGTGGAGGTGACCACAGCCCCGGGTACTGTTCACAGCTACCTGGGCTCCCCTTTCTGGATCCACCAGGCTGGTAAGAACTTTCTTCCTCATTCTTCCCACATAGTTCCCACCCCCACTGAATCTGACCCTGTGCCCAGGATCCCCAACTCTGACCCTTCTGACCGATGGCTCTGGTGGCACAATGCCTTGTGCACAGAAGGACTTAAGCTGCTCCCTGCTGACATCCCTGTAGTGCGCCTCCCCACCCCAAACTTGCACTGGAGGGAGATCTCCAGTGGGCATCTGGAATTGGAGTGGCAGCACCCATCGTCCTGGGCAGCCCAAGAGACCTGTTATCAACTCCCATACACAGGAGAAGGCCATCAGGACTGGAAGGTATGGTCAAGCAACAAATGCCCACAGACCTCACTACGCAGGGGATCCCTGGGGTTGGCCATGCCTGTTAGCAGGAGTGAAAGTGTCTATGTATCCAGTCTCTGCTAGTATATCTATGTTTATCAGATTCAACTGGTATCTTAGTCTCTCTTGGGCATCTGATATTTCTGGCTACTCCTACTTAACATTTCTCTTCCCTTTGTCTTTGGGATATCAGTCTTCCCCGATTTTCCTCCTACCTCTCTGACTGAACTTTCTCACTCTCCTCTCCTGGCTCCTCCTTTCCAGCCTTCCACAAAATGCTGTGCTTCCTAGAGTCTCATCCTAGGCTCTTTTCTCCTCTGATAAAATAAATATGTTCTCCCCAGGTGAGTGCTTTAACTCCATGGTTTCAATGTCCATACATTAACAATCGCAATTTTACCATTCTAACTCCCATATGGAAAGGAATTTACAAACCACAGGCAAATTACCAAAATGTTTGAAGTCTGTTTCCTCATTGGTGAAATGAGGATGAAGCTATCTACCTTATGGAGTTATAGTAAAGATTAAATACTATATCTAAATACCTAGCATACTGCCTGGCATAAGGAAGGTGCTCAATATACATTACTTAAATATTAGTTTGTCTACTTTTATTCTCATTTGCCACACATATATACAACTATGTACAACATCTTATGGTTCTACCAAAACTTCCTCCCCCTGGACATTTCAGACTCAGTCTATCCAGAATGGAACTCCTCTTCCTCCTGAAGCTTTACTTTTTTATTGTGATAAAACTTACATACAACAAAGTGTACAAATTTTACATATATAGTCTGTACTTGTGTATACATCCACATAACCATAACCAGGATCAAGATATAAATTATTTCCAGCACCTCAGAAGCTCCCAATGCTCCGACACATCCCCCGCCACCAAAGGTAATCACCATCCTGACATTACCATTGATTCATTTGGACTGTTGTTGAACTCTATAAAATGGAACCCTAAAGTATATCTTCCTCAAACTTACTTCTCTTCTGTGTCCTGTCTCTGACAATGGCACCGCTACTTACCCAGTACCCAAGCCTAGAAGCACCCTTGACTCTTCTTGCTCTTCCCTTATCCCTTCCCCTTACTCATCAACTAAGTTGATGGCAATAACGTACTAATAGTCCTCAAATTCCTACCAGGATTGCCTTAGACTCATCTGTGACCATCCAGCCGTGTCATCCATGCTTTTAGCACACTAAACTACTCTGTGGCACAAAACCAAGCATTAAATGCTTCTCTGGACTTCCGTGGTGCCTTGCACTAATTAATTGTTGTGATTATTTACCTGTTTGGATGTCTTTCTCATTAGATATGTAAGAGACGGTGTTTTATTGCTTTCTCCCCAGTGCCTAACCCAATGTTTGGAGTATCACACAGTTCATAAATGTTTGCTGCCTTCCTGCTTGTACACATGATGCTTGTACCCCAGCGCCTAACGCAAATCTGGCATCCTCTGCAGCATGAGTATTATTTGTGGCATGGTCTGTGTGGCTCTGAATATATCTGTTTCTGGGGGTGTCCATCGCCCGACCTGGAGTTGTGAGAACACCCGGTAGGGTGTGCGTGTACCGGGATCCCTGCCGAGGGTGTACCTGGGTGTTGGTGTTAGGATACGTAGCTCTCTGAGGTGAGGTCTGTGTCTCAGGAGGTGGGCCTGGCACGTTTCTCTCGGGCAGAGCGTGATCCCGTTAGGGAGAGGCTCTCGGTTAGGGCGCTCTATCCTGTTGCTGGGAAGCGTGTTTTCTGCCGGTGGGGCTCTTTGTGGGAATCTCCGACCGCCTGGGGATTCGGAGCTGCAGGATTTGGGTCAAACAGACGCTGGGCTATCGAAGCCCCGACGCCGGGCCACCGCACGCTTCTTTGCTCAGGTGCTGGAGCCGCCTCTCGGGGCCCGAGGAGGGACCCTGGAGCTGCGCCCGCGATCTCGCTACCGTTTACAGCTGCGCGCCAGGCTCAACGGCCCCACCTACCAAGGT
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Task1_train_808
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Gene MPL (MPL proto-oncogene, thrombopoietin receptor) on Chromosome 1 is impacted by this variant. Evaluate whether it is clinically benign or pathogenic and name the disorder if relevant.
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Pathogenic; not provided
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TAGGCTCTTTTCTCCTCTGATAAAATAAATATGTTCTCCCCAGGTGAGTGCTTTAACTCCATGGTTTCAATGTCCATACATTAACAATCGCAATTTTACCATTCTAACTCCCATATGGAAAGGAATTTACAAACCACAGGCAAATTACCAAAATGTTTGAAGTCTGTTTCCTCATTGGTGAAATGAGGATGAAGCTATCTACCTTATGGAGTTATAGTAAAGATTAAATACTATATCTAAATACCTAGCATACTGCCTGGCATAAGGAAGGTGCTCAATATACATTACTTAAATATTAGTTTGTCTACTTTTATTCTCATTTGCCACACATATATACAACTATGTACAACATCTTATGGTTCTACCAAAACTTCCTCCCCCTGGACATTTCAGACTCAGTCTATCCAGAATGGAACTCCTCTTCCTCCTGAAGCTTTACTTTTTTATTGTGATAAAACTTACATACAACAAAGTGTACAAATTTTACATATATAGTCTGTACTTGTGTATACATCCACATAACCATAACCAGGATCAAGATATAAATTATTTCCAGCACCTCAGAAGCTCCCAATGCTCCGACACATCCCCCGCCACCAAAGGTAATCACCATCCTGACATTACCATTGATTCATTTGGACTGTTGTTGAACTCTATAAAATGGAACCCTAAAGTATATCTTCCTCAAACTTACTTCTCTTCTGTGTCCTGTCTCTGACAATGGCACCGCTACTTACCCAGTACCCAAGCCTAGAAGCACCCTTGACTCTTCTTGCTCTTCCCTTATCCCTTCCCCTTACTCATCAACTAAGTTGATGGCAATAACGTACTAATAGTCCTCAAATTCCTACCAGGATTGCCTTAGACTCATCTGTGACCATCCAGCCGTGTCATCCATGCTTTTAGCACACTAAACTACTCTGTGGCACAAAACCAAGCATTAAATGCTTCTCTGGACTTCCGTGGTGCCTTGCACTAATTAATTGTTGTGATTATTTACCTGTTTGGATGTCTTTCTCATTAGATATGTAAGAGACGGTGTTTTATTGCTTTCTCCCCAGTGCCTAACCCAATGTTTGGAGTATCACACAGTTCATAAATGTTTGCTGCCTTCCTGCTTGTACACATGATGCTTGTACCCCAGCGCCTAACGCAAATCTGGCATCCTCTGCAGCATGAGTATTATTTGTGGCATGGTCTGTGTGGCTCTGAATATATCTGTTTCTGGGGGTGTCCATCGCCCGACCTGGAGTTGTGAGAACACCCGGTAGGGTGTGCGTGTACCGGGATCCCTGCCGAGGGTGTACCTGGGTGTTGGTGTTAGGATACGTAGCTCTCTGAGGTGAGGTCTGTGTCTCAGGAGGTGGGCCTGGCACGTTTCTCTCGGGCAGAGCGTGATCCCGTTAGGGAGAGGCTCTCGGTTAGGGCGCTCTATCCTGTTGCTGGGAAGCGTGTTTTCTGCCGGTGGGGCTCTTTGTGGGAATCTCCGACCGCCTGGGGATTCGGAGCTGCAGGATTTGGGTCAAACAGACGCTGGGCTATCGAAGCCCCGACGCCGGGCCACCGCACGCTTCTTTGCTCAGGTGCTGGAGCCGCCTCTCGGGGCCCGAGGAGGGACCCTGGAGCTGCGCCCGCGATCTCGCTACCGTTTACAGCTGCGCGCCAGGCTCAACGGCCCCACCTACCAAGGTCCCTGGAGCTCGTGGTCGGACCCAACTAGGGTGGAGACCGCCACCGAGACCGGTGAGGCAAGCCCCGGCCGCACCAAAGCCGCACAGCGCCTGCGCCAGGGACTGGGCGCCGGGTGCGAGTGGGGCGGGGCTCGGAGAGGGGCGAGGCGCGGGGCGCGGAGAGGGGCGGGGCCCTGACCTTGCGGGCCGACGGCTGCGCAGGTGCCCGCAGTGCCCAGGGGCGGCGAGGGGCGGGGCCAGAGTAGGGGCTGGCTGGATGAGGGCGGGGCTCCGGCCCGGGTGGGCCGAAGTCTGACCCTTTTTGTCTCCTAGCCTGGATCTCCTTGGTGACCGCTCTGCATCTAGTGCTGGGCCTCAGCGCCGTCCTGGGCCTGCTGCTGCTGAGGTGGCAGTTTCCTGCACACTACAGGTACCGCCCCCGCCAGGCAGGAGACTGGCGGTGGACCAGGTGGAGCCGAAGGCCTGTAAACAGGCATTCTTGGTTCGCTCTGTGACCCCAGATCTCCGTCCACCGCCCGTGCGCACCTACGGCTTCGCCACTTCCTGCACGTCACCTCTGGGACTCGCCGCGGCTCCTTACACTCTAACACGCCCACTATACCGCCCACCTCGAACAGCCCCGCCTCCTGCTGCTCACCTCGGCGACTAGGCCACCGTCCACCCTTCAGCCAAACTGCCCACTCCACCCCCATCCAATCTGCCGTCAGGTCCCACCTCCTAAACCTAGTCCAAACAATGGCCCCCTTTCTCTAGCCCTACAGACACGACCTGACTCACTGAAACAGAACCTCTTGCCCCTCCGATCTAGCCTCACACAGCCACCAGAATAATCTTTCTAAAATGCGCACATGAACCTATCAATTCCCTCCTTAAATCCTTTCAATAGCTCCCAGGATATAGTCCAGGCTCCCTATGATGACAAGCGAGGCTCTGCAAAATCGGCCCCTGCCAGCAAGCACTTCAGCCTGTTCTACCCTGTGCATCAGCCTTTCCAAACTGGTTTTCTCCACAAGTCAGGTTTTACTTCTCAGTGCCTTTGCACATAACGTCCGCTCTGCCTGAAATAGCCTCCCTGTCTCACTAAACCCATTCATCTGTAAATAACTTTCTTCACCAACTCTTAAGAAACCTTTCCTGACCCTCCCCCTTTTGGCCGCTGCTCTGTGCTCCAATACAGTACCAGTAGTGTTTTACTGTGTTTATTTCTTTATATATCTTCCCTATTATACCTTACTTGGTCATCTTTAAATCCTTAGCACAGTGCCTGCCAAAAAGCAGGCCCTTAAATAAATGTTATTAATGAGTGACTCATTTATGTGGGAAGACGAAGGCTGAGGAGAAATGCCATTGGAGGCTATAAACATGAAGGGTAGAATGCATCCCACCTCCATCCTTCATCTGCTGCTTCTTTAAGACTTAGCTCAGAAGTCATCTCCTCCAGATGGTGTCTTCTGATGGTCCTGGGCTGGTTCAGGTGCCACTCTCATGGGCTACCATCTCCCTCTGAACATACCTCTCTTTGAACTTTTAATCTGCCCATACGTATGAGCAGACTGAAAGGTAGCCTCCATGCAGGTAGCCAGATCCAACAAAAAAGTTGGAGAAGTAGGAGGAGGTGGTCTGCTGAGCCAGGCATACTCAGTTTCTTTTCCCCAATTTACCAGGTAAGTCACACCTTCTCCCCTGGAGAGATATGAGTGAGGTCACTGAAGCGGCCTGAAATGTTCTACTGACGTCCCTCCACATGGAAATATGAAGCTAAAGAATCCAGGTTCTGGCCGGGTGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGTGGGCAGATCACAAGGTCAGGAGATCAAGACCATCCTGGCTAACACAGTGAAACCCCATCTCTACTAAAAATACAAAAAAAATTAGCCAGGCATGGTGGTGGGCGCCTGTAGTCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATGGTGTGAACCTGAGAGGCGGAGCTTGCAGTGAGCCAAGACCGCGCCACTGCACTCCAGCCTGGGCCACAGAGGGAGACTCCATCTCAAAAACAAAACAAAACAAAACAAAACAAAACAAAACAAAACAACAAAAAAATGGAGGCCCCTCCAATACATCTTAATCCATATTCTTCCCAGATAGACTACCCTCTCCAGTAACTTACTAATAAGCTCCACTGATTTTCTTCATTCATTCATTCAGCTAATTTACTGAGCACCTACTATGGGTCAGACACTATTCTACACCCTAGAAATACAGGAGTGAATAAATAGACAAACTCTCTTTTCTCGGGGACCATATGTTCTAGTGGGGTGAGACAGACAAAAAGAAATATACATAACAATGTAATAAATGTACAACAAGTCAAATACTATAAGGAAAAATGAAGTAC
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TAGGCTCTTTTCTCCTCTGATAAAATAAATATGTTCTCCCCAGGTGAGTGCTTTAACTCCATGGTTTCAATGTCCATACATTAACAATCGCAATTTTACCATTCTAACTCCCATATGGAAAGGAATTTACAAACCACAGGCAAATTACCAAAATGTTTGAAGTCTGTTTCCTCATTGGTGAAATGAGGATGAAGCTATCTACCTTATGGAGTTATAGTAAAGATTAAATACTATATCTAAATACCTAGCATACTGCCTGGCATAAGGAAGGTGCTCAATATACATTACTTAAATATTAGTTTGTCTACTTTTATTCTCATTTGCCACACATATATACAACTATGTACAACATCTTATGGTTCTACCAAAACTTCCTCCCCCTGGACATTTCAGACTCAGTCTATCCAGAATGGAACTCCTCTTCCTCCTGAAGCTTTACTTTTTTATTGTGATAAAACTTACATACAACAAAGTGTACAAATTTTACATATATAGTCTGTACTTGTGTATACATCCACATAACCATAACCAGGATCAAGATATAAATTATTTCCAGCACCTCAGAAGCTCCCAATGCTCCGACACATCCCCCGCCACCAAAGGTAATCACCATCCTGACATTACCATTGATTCATTTGGACTGTTGTTGAACTCTATAAAATGGAACCCTAAAGTATATCTTCCTCAAACTTACTTCTCTTCTGTGTCCTGTCTCTGACAATGGCACCGCTACTTACCCAGTACCCAAGCCTAGAAGCACCCTTGACTCTTCTTGCTCTTCCCTTATCCCTTCCCCTTACTCATCAACTAAGTTGATGGCAATAACGTACTAATAGTCCTCAAATTCCTACCAGGATTGCCTTAGACTCATCTGTGACCATCCAGCCGTGTCATCCATGCTTTTAGCACACTAAACTACTCTGTGGCACAAAACCAAGCATTAAATGCTTCTCTGGACTTCCGTGGTGCCTTGCACTAATTAATTGTTGTGATTATTTACCTGTTTGGATGTCTTTCTCATTAGATATGTAAGAGACGGTGTTTTATTGCTTTCTCCCCAGTGCCTAACCCAATGTTTGGAGTATCACACAGTTCATAAATGTTTGCTGCCTTCCTGCTTGTACACATGATGCTTGTACCCCAGCGCCTAACGCAAATCTGGCATCCTCTGCAGCATGAGTATTATTTGTGGCATGGTCTGTGTGGCTCTGAATATATCTGTTTCTGGGGGTGTCCATCGCCCGACCTGGAGTTGTGAGAACACCCGGTAGGGTGTGCGTGTACCGGGATCCCTGCCGAGGGTGTACCTGGGTGTTGGTGTTAGGATACGTAGCTCTCTGAGGTGAGGTCTGTGTCTCAGGAGGTGGGCCTGGCACGTTTCTCTCGGGCAGAGCGTGATCCCGTTAGGGAGAGGCTCTCGGTTAGGGCGCTCTATCCTGTTGCTGGGAAGCGTGTTTTCTGCCGGTGGGGCTCTTTGTGGGAATCTCCGACCGCCTGGGGATTCGGAGCTGCAGGATTTGGGTCAAACAGACGCTGGGCTATCGAAGCCCCGACGCCGGGCCACCGCACGCTTCTTTGCTCAGGTGCTGGAGCCGCCTCTCGGGGCCCGAGGAGGGACCCTGGAGCTGCGCCCGCGATCTCGCTACCGTTTACAGCTGCGCGCCAGGCTCAACGGCCCCACCTACCAAGGTCCCTGGAGCTCGTGGTCGGACCCAACTAGGGTGGAGACCGCCACCGAGACCGGTGAGGCAAGCCCCGGCCGCACCAAAGCCGCACAGCGCCTGCGCCAGGGACTGGGCGCCGGGTGCGAGTGGGGCGGGGCTCGGAGAGGGGCGAGGCGCGGGGCGCGGAGAGGGGCGGGGCCCTGACCTTGCGGGCCGACGGCTGCGCAGGTGCCCGCAGTGCCCAGGGGCGGCGAGGGGCGGGGCCAGAGTAGGGGCTGGCTGGATGAGGGCGGGGCTCCGGCCCGGGTGGGCCGAAGTCTGACCCTTTTTGTCTCCTAGCCTGGATCTCCTTGGTGACCGCTCTGCATCTAGTGCTGGGCCTCAACGCCGTCCTGGGCCTGCTGCTGCTGAGGTGGCAGTTTCCTGCACACTACAGGTACCGCCCCCGCCAGGCAGGAGACTGGCGGTGGACCAGGTGGAGCCGAAGGCCTGTAAACAGGCATTCTTGGTTCGCTCTGTGACCCCAGATCTCCGTCCACCGCCCGTGCGCACCTACGGCTTCGCCACTTCCTGCACGTCACCTCTGGGACTCGCCGCGGCTCCTTACACTCTAACACGCCCACTATACCGCCCACCTCGAACAGCCCCGCCTCCTGCTGCTCACCTCGGCGACTAGGCCACCGTCCACCCTTCAGCCAAACTGCCCACTCCACCCCCATCCAATCTGCCGTCAGGTCCCACCTCCTAAACCTAGTCCAAACAATGGCCCCCTTTCTCTAGCCCTACAGACACGACCTGACTCACTGAAACAGAACCTCTTGCCCCTCCGATCTAGCCTCACACAGCCACCAGAATAATCTTTCTAAAATGCGCACATGAACCTATCAATTCCCTCCTTAAATCCTTTCAATAGCTCCCAGGATATAGTCCAGGCTCCCTATGATGACAAGCGAGGCTCTGCAAAATCGGCCCCTGCCAGCAAGCACTTCAGCCTGTTCTACCCTGTGCATCAGCCTTTCCAAACTGGTTTTCTCCACAAGTCAGGTTTTACTTCTCAGTGCCTTTGCACATAACGTCCGCTCTGCCTGAAATAGCCTCCCTGTCTCACTAAACCCATTCATCTGTAAATAACTTTCTTCACCAACTCTTAAGAAACCTTTCCTGACCCTCCCCCTTTTGGCCGCTGCTCTGTGCTCCAATACAGTACCAGTAGTGTTTTACTGTGTTTATTTCTTTATATATCTTCCCTATTATACCTTACTTGGTCATCTTTAAATCCTTAGCACAGTGCCTGCCAAAAAGCAGGCCCTTAAATAAATGTTATTAATGAGTGACTCATTTATGTGGGAAGACGAAGGCTGAGGAGAAATGCCATTGGAGGCTATAAACATGAAGGGTAGAATGCATCCCACCTCCATCCTTCATCTGCTGCTTCTTTAAGACTTAGCTCAGAAGTCATCTCCTCCAGATGGTGTCTTCTGATGGTCCTGGGCTGGTTCAGGTGCCACTCTCATGGGCTACCATCTCCCTCTGAACATACCTCTCTTTGAACTTTTAATCTGCCCATACGTATGAGCAGACTGAAAGGTAGCCTCCATGCAGGTAGCCAGATCCAACAAAAAAGTTGGAGAAGTAGGAGGAGGTGGTCTGCTGAGCCAGGCATACTCAGTTTCTTTTCCCCAATTTACCAGGTAAGTCACACCTTCTCCCCTGGAGAGATATGAGTGAGGTCACTGAAGCGGCCTGAAATGTTCTACTGACGTCCCTCCACATGGAAATATGAAGCTAAAGAATCCAGGTTCTGGCCGGGTGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGTGGGCAGATCACAAGGTCAGGAGATCAAGACCATCCTGGCTAACACAGTGAAACCCCATCTCTACTAAAAATACAAAAAAAATTAGCCAGGCATGGTGGTGGGCGCCTGTAGTCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATGGTGTGAACCTGAGAGGCGGAGCTTGCAGTGAGCCAAGACCGCGCCACTGCACTCCAGCCTGGGCCACAGAGGGAGACTCCATCTCAAAAACAAAACAAAACAAAACAAAACAAAACAAAACAAAACAACAAAAAAATGGAGGCCCCTCCAATACATCTTAATCCATATTCTTCCCAGATAGACTACCCTCTCCAGTAACTTACTAATAAGCTCCACTGATTTTCTTCATTCATTCATTCAGCTAATTTACTGAGCACCTACTATGGGTCAGACACTATTCTACACCCTAGAAATACAGGAGTGAATAAATAGACAAACTCTCTTTTCTCGGGGACCATATGTTCTAGTGGGGTGAGACAGACAAAAAGAAATATACATAACAATGTAATAAATGTACAACAAGTCAAATACTATAAGGAAAAATGAAGTAC
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Task1_train_809
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The gene MPL (MPL proto-oncogene, thrombopoietin receptor), on Chromosome 1, contains a mutation. Does this mutation cause a disorder, or is it a benign change?
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Pathogenic; Thrombocythemia 2
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AGGTTCTGGCCGGGTGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGTGGGCAGATCACAAGGTCAGGAGATCAAGACCATCCTGGCTAACACAGTGAAACCCCATCTCTACTAAAAATACAAAAAAAATTAGCCAGGCATGGTGGTGGGCGCCTGTAGTCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATGGTGTGAACCTGAGAGGCGGAGCTTGCAGTGAGCCAAGACCGCGCCACTGCACTCCAGCCTGGGCCACAGAGGGAGACTCCATCTCAAAAACAAAACAAAACAAAACAAAACAAAACAAAACAAAACAACAAAAAAATGGAGGCCCCTCCAATACATCTTAATCCATATTCTTCCCAGATAGACTACCCTCTCCAGTAACTTACTAATAAGCTCCACTGATTTTCTTCATTCATTCATTCAGCTAATTTACTGAGCACCTACTATGGGTCAGACACTATTCTACACCCTAGAAATACAGGAGTGAATAAATAGACAAACTCTCTTTTCTCGGGGACCATATGTTCTAGTGGGGTGAGACAGACAAAAAGAAATATACATAACAATGTAATAAATGTACAACAAGTCAAATACTATAAGGAAAAATGAAGTACAGCAGGAGATAGCCTGTCATGGGGAAAGGAAGCAGCACTACAGTGGTCCCCTCTTATCCACAGTTTCACTTTTTGTGGTTTCAGTTACACGCAGTCAATTAAGGTCTGAAAAAAATTACATGGAAAATTCCAGAAATAAACAATTCATGTATTTTAAATTGTAAGTAGCACGATGAAATCACTTGCCATGCCGCTCTGTCCCACCCGGGATGTAAATCATCCCTTTGTCCAGCATCTCCACGCTGTATATGCTCCCTGCCCCATAGTCACTTAGCAGCCATCTTGCTTATCAGATTGACTCGTTGAGGTATTGCAGAGCTGTGTTCAAGTAACCCTCATTTTAGTTAATAATGGCCCCAAAGTACAAGAGTAGTGATGTTGGCATATTGTTCTAATTGTTCTATTTTATTAGTAGTCATTATTAATCTCTTACTGTGCCTAATTTATAAACTTTATTGTAGGTATGTACGTATAGAAAAAACATCTGCTGGGAGTCTTGAAACATATCCCCTGCAGATAAAGAGGGACTACTGTGTTTCAGGCAAGGTAGTCAGGGATGACATTTGAACAGAGGCCTACAATGAGGTGAGGGAATGAATCCAGTGTTCCAGACAGAACAAACATTGGAGTGTTTGAGGAAACTGCAGCACCCTTTGTTGAACCTGCCCACCACTGACTTCCCTCCCCTACCTGAGGTTTTCTTCTTACTCTACTCCCCTGCCCAACTTTATTGCCTTGACCATGCTCTTATATCTCCAAGCCTTACTCCCCGGCCTCACTGCTCCCCCACCCCAACTGCTGTCCTCCTCCCTGCCAATCCACTGCCATGGCTCAGTCTGCTTCTCTTCCTTCTCCCCCAGGAGACTGAGGCATGCCCTGTGGCCCTCACTTCCAGACCTGCACCGGGTCCTAGGCCAGTACCTTAGGGACACTGCAGCCCTGAGCCCGGTGAGTGTGCTTCCCTCCCCTGTGCCCACCACCAACCCTGCCTGGTACTGGATCCTTGCCCCAACAATACAACTTGTTCAAGGTCCTTGCCCTACCAGTGTGCCATCCCCAGGCACTACCCCAGCACTACCCCAGCCCTTCTCCTTCCTGTACAGTCCAGCCCCTCCTCCCACAGGATCTGCTTTAATCCAGCGCCTCTCCTCATCTCTCCCAGCCCAAGGCCACAGTCTCAGATACCTGTGAAGAAGTGGAACCCAGCCTCCTTGAAATCCTCCCCAAGTCCTCAGAGAGGACTCCTTTGCCCCTGTGTTCCTCCCAGGCCCAGATGGACTACCGAAGATTGCAGCCTTCTTGCCTGGGGACCATGCCCCTGTCTGTGTGCCCACCCATGGCTGAGTCAGGGTCCTGCTGTACCACCCACATTGCCAACCATTCCTACCTACCACTAAGCTATTGGCAGCAGCCTTGAGGACAGGCTCCTCACTCCCAGTTCCCTGGACAGAGCTAAACTCTCGAGACTTCTCTGTGAACTTCCCTACCCTACCCCCACAACACAAGCACCCCAGACCTCACCTCCATCCCCCTCTGTCTGCCCTCACAATTAGGCTTCATTGCACTGATCTTACTCTACTGCTGCTGACATAAAACCAGGACCCTTTCTCCACAGGCAGGCTCATTTCACTAAGCTCCTCCTTTACTTTCTCTCTCCTCTTTGATGTCAAACGCCTTGAAAACAAGCCTCCACTTCCCCACACTTCCCATTTACTCTTGAGACTACTTCAATTAGTTCCCCTACTACACTTTGCTAGTGAAACTGCCCAGGCAAAGTGCACCTCAAATCTTCTAATTCCAAGATCCAATAGGATCTCGTTAATCATCAGTTCCTTTGATCTCGCTGTAAGATTTGTCAAGGCTGACTACTCACTTCTCCTTTAAATTCTTTCCTACCTTGGTCCTGCCTCTTTGAGTATATTAGTAGGTTTTTTTTATTTGTTTGAGACAGGGTCTCACTCTGTCACCCAGGCTGCAGTGCAATGGCGCGATCTCAGCTCACTGCAACCTCCACCTCCGGGTTCAAGCGATTCTTGTGCCTCGGCCTCCCTAGTAGCTGGGATTACAGGCGCACACCACCACACACAGCTAATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTAGACGGAGCCTTGCTCTGTTGCCAGACTGGAGTGCAGTGGCACGATCTCGGCTCACTGCAACCTCTGCCTCCCGGGTTCAAGCCATTCTGCCTCAGCCTCCCAAGTAGCTGGGAGTACAGGCGTCTGCCACCATGCCTAATTTTTTTCTATTTTTAGGAGAGACCGGTTTTCACCACGTTGGCCAGGATGGTCTCGATATCCTGATCTCGTGATCCGCCTGCCTCTGCCTCCCAAAGTGCTGGGATTACAGGTGTGACCCACTGCGCACAGCCCCAGCTAATTTTCATATTTTTAGTAGAGACAGGGTTTTGCCATGTTGCCCAGGCTGGTCTTGAACTCCTAACCTCGGGTGATCCACCCACCTTGGCCTCCCAAAGTGTTAGGATTACAGGCATGAGCCACTGCGCCCGGCTGAGTGTACTAGTAGTTAAGAGAATAAACTAGATCTAGAATCAGAGCTGGATTCAATTCCTGTCCTTCACATTTACTAGCTGTGCAACCTTGGGCACATAACTTAATGTCTTTGAGCCTTAGTTTTTTCATCTGTAAAACAGGGATAATAACAGCACCCCATAGAGTTGTGACGAGGATTGAGATAATCTAAGTAAAGCACAGTCCCTAGGACATAGTAAATGATTCATATATCCGAACTACTGTTATAATTATTCCTTCTTACTCTCCTCTTCTAGCATTTCTTCCAATTATTACAGTCCTTCAAGATTCCATTTCTTAACAGTCTCCAATCCCATCTATTCTCTGCCTTTACTATATGTTGACCATTCCAAAGTTCTTATCTCTAGCTCAGACATCTACTACAGCACTGTGATGCTTTATGCAACTAACTGTTTACATATCTGTCCCCTGCTACTAGATTGTGAGCTCCTTGAGGGAAAGGAACATGATTTATTTGTCCTTTTCCCCCAGCACCTAGAGTAGTGCTTGGTGCATGATAGTAGGCCTTCAATAAATTTTTTCTAAATGAATGAAATCTTTCTGGACAAGGTTACCTTAATCCCATGCCAGCTGTCCTCATCCTCTAAACCGTTCATAGGCAGCAGTAAATGTGCTCAGACAGTTCTGATTATGGACTCTCCTAACACATTCTAATTCTCAAACAAATGGTTTTGTTGTCATTGTTTTTTCTGGCTCCAAATATACCCACTGTATCAGTCAGGGTCTTGGAAGAAATAGATGACACACTCAAATTGGGTAATATGATGACAGTGTAATAAACGGCAAACAGTATTTACAAAGATGAGGGCAAGATTTGGGAAAACCATCAAGGAACAGTGCAAGTGCCTCTGAGGCTAACAACAACAAGGTGCTGGCACTAGCCC
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AGGTTCTGGCCGGGTGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGTGGGCAGATCACAAGGTCAGGAGATCAAGACCATCCTGGCTAACACAGTGAAACCCCATCTCTACTAAAAATACAAAAAAAATTAGCCAGGCATGGTGGTGGGCGCCTGTAGTCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATGGTGTGAACCTGAGAGGCGGAGCTTGCAGTGAGCCAAGACCGCGCCACTGCACTCCAGCCTGGGCCACAGAGGGAGACTCCATCTCAAAAACAAAACAAAACAAAACAAAACAAAACAAAACAAAACAACAAAAAAATGGAGGCCCCTCCAATACATCTTAATCCATATTCTTCCCAGATAGACTACCCTCTCCAGTAACTTACTAATAAGCTCCACTGATTTTCTTCATTCATTCATTCAGCTAATTTACTGAGCACCTACTATGGGTCAGACACTATTCTACACCCTAGAAATACAGGAGTGAATAAATAGACAAACTCTCTTTTCTCGGGGACCATATGTTCTAGTGGGGTGAGACAGACAAAAAGAAATATACATAACAATGTAATAAATGTACAACAAGTCAAATACTATAAGGAAAAATGAAGTACAGCAGGAGATAGCCTGTCATGGGGAAAGGAAGCAGCACTACAGTGGTCCCCTCTTATCCACAGTTTCACTTTTTGTGGTTTCAGTTACACGCAGTCAATTAAGGTCTGAAAAAAATTACATGGAAAATTCCAGAAATAAACAATTCATGTATTTTAAATTGTAAGTAGCACGATGAAATCACTTGCCATGCCGCTCTGTCCCACCCGGGATGTAAATCATCCCTTTGTCCAGCATCTCCACGCTGTATATGCTCCCTGCCCCATAGTCACTTAGCAGCCATCTTGCTTATCAGATTGACTCGTTGAGGTATTGCAGAGCTGTGTTCAAGTAACCCTCATTTTAGTTAATAATGGCCCCAAAGTACAAGAGTAGTGATGTTGGCATATTGTTCTAATTGTTCTATTTTATTAGTAGTCATTATTAATCTCTTACTGTGCCTAATTTATAAACTTTATTGTAGGTATGTACGTATAGAAAAAACATCTGCTGGGAGTCTTGAAACATATCCCCTGCAGATAAAGAGGGACTACTGTGTTTCAGGCAAGGTAGTCAGGGATGACATTTGAACAGAGGCCTACAATGAGGTGAGGGAATGAATCCAGTGTTCCAGACAGAACAAACATTGGAGTGTTTGAGGAAACTGCAGCACCCTTTGTTGAACCTGCCCACCACTGACTTCCCTCCCCTACCTGAGGTTTTCTTCTTACTCTACTCCCCTGCCCAACTTTATTGCCTTGACCATGCTCTTATATCTCCAAGCCTTACTCCCCGGCCTCACTGCTCCCCCACCCCAACTGCTGTCCTCCTCCCTGCCAATCCACTGCCATGGCTCAGTCTGCTTCTCTTCCTTCTCCCCCAGGAGACTGAGGCATGCCCTGTGGCCCTCACTTCCAGACCTGCACCGGGTCCTAGGCCAGTACCTTAGGGACACTGCAGCCCTGAGCCCGGTGAGTGTGCTTCCCTCCCCTGTGCCCACCACCAACCCTGCCTGGTACTGGATCCTTGCCCCAACAATACAACTTGTTCAAGGTCCTTGCCCTACCAGTGTGCCATCCCCAGGCACTACCCCAGCACTACCCCAGCCCTTCTCCTTCCTGTACAGTCCAGCCCCTCCTCCCACAGGATCTGCTTTAATCCAGCGCCTCTCCTCATCTCTCCCAGCCCAAGGCCACAGTCTCAGATACCTGTGAAGAAGTGGAACCCAGCCTCCTTGAAATCCTCCCCAAGTCCTCAGAGAGGACTCCTTTGCCCCTGTGTTCCTCCCAGGCCCAGATGGACTACCGAAGATTGCAGCCTTCTTGCCTGGGGACCATGCCCCTGTCTGTGTGCCCACCCATGGCTGAGTCAGGGTCCTGCTGTACCACCCACATTGCCAACCATTCCTACCTACCACTAAGCTATTGGCAGCAGCTTTGAGGACAGGCTCCTCACTCCCAGTTCCCTGGACAGAGCTAAACTCTCGAGACTTCTCTGTGAACTTCCCTACCCTACCCCCACAACACAAGCACCCCAGACCTCACCTCCATCCCCCTCTGTCTGCCCTCACAATTAGGCTTCATTGCACTGATCTTACTCTACTGCTGCTGACATAAAACCAGGACCCTTTCTCCACAGGCAGGCTCATTTCACTAAGCTCCTCCTTTACTTTCTCTCTCCTCTTTGATGTCAAACGCCTTGAAAACAAGCCTCCACTTCCCCACACTTCCCATTTACTCTTGAGACTACTTCAATTAGTTCCCCTACTACACTTTGCTAGTGAAACTGCCCAGGCAAAGTGCACCTCAAATCTTCTAATTCCAAGATCCAATAGGATCTCGTTAATCATCAGTTCCTTTGATCTCGCTGTAAGATTTGTCAAGGCTGACTACTCACTTCTCCTTTAAATTCTTTCCTACCTTGGTCCTGCCTCTTTGAGTATATTAGTAGGTTTTTTTTATTTGTTTGAGACAGGGTCTCACTCTGTCACCCAGGCTGCAGTGCAATGGCGCGATCTCAGCTCACTGCAACCTCCACCTCCGGGTTCAAGCGATTCTTGTGCCTCGGCCTCCCTAGTAGCTGGGATTACAGGCGCACACCACCACACACAGCTAATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTAGACGGAGCCTTGCTCTGTTGCCAGACTGGAGTGCAGTGGCACGATCTCGGCTCACTGCAACCTCTGCCTCCCGGGTTCAAGCCATTCTGCCTCAGCCTCCCAAGTAGCTGGGAGTACAGGCGTCTGCCACCATGCCTAATTTTTTTCTATTTTTAGGAGAGACCGGTTTTCACCACGTTGGCCAGGATGGTCTCGATATCCTGATCTCGTGATCCGCCTGCCTCTGCCTCCCAAAGTGCTGGGATTACAGGTGTGACCCACTGCGCACAGCCCCAGCTAATTTTCATATTTTTAGTAGAGACAGGGTTTTGCCATGTTGCCCAGGCTGGTCTTGAACTCCTAACCTCGGGTGATCCACCCACCTTGGCCTCCCAAAGTGTTAGGATTACAGGCATGAGCCACTGCGCCCGGCTGAGTGTACTAGTAGTTAAGAGAATAAACTAGATCTAGAATCAGAGCTGGATTCAATTCCTGTCCTTCACATTTACTAGCTGTGCAACCTTGGGCACATAACTTAATGTCTTTGAGCCTTAGTTTTTTCATCTGTAAAACAGGGATAATAACAGCACCCCATAGAGTTGTGACGAGGATTGAGATAATCTAAGTAAAGCACAGTCCCTAGGACATAGTAAATGATTCATATATCCGAACTACTGTTATAATTATTCCTTCTTACTCTCCTCTTCTAGCATTTCTTCCAATTATTACAGTCCTTCAAGATTCCATTTCTTAACAGTCTCCAATCCCATCTATTCTCTGCCTTTACTATATGTTGACCATTCCAAAGTTCTTATCTCTAGCTCAGACATCTACTACAGCACTGTGATGCTTTATGCAACTAACTGTTTACATATCTGTCCCCTGCTACTAGATTGTGAGCTCCTTGAGGGAAAGGAACATGATTTATTTGTCCTTTTCCCCCAGCACCTAGAGTAGTGCTTGGTGCATGATAGTAGGCCTTCAATAAATTTTTTCTAAATGAATGAAATCTTTCTGGACAAGGTTACCTTAATCCCATGCCAGCTGTCCTCATCCTCTAAACCGTTCATAGGCAGCAGTAAATGTGCTCAGACAGTTCTGATTATGGACTCTCCTAACACATTCTAATTCTCAAACAAATGGTTTTGTTGTCATTGTTTTTTCTGGCTCCAAATATACCCACTGTATCAGTCAGGGTCTTGGAAGAAATAGATGACACACTCAAATTGGGTAATATGATGACAGTGTAATAAACGGCAAACAGTATTTACAAAGATGAGGGCAAGATTTGGGAAAACCATCAAGGAACAGTGCAAGTGCCTCTGAGGCTAACAACAACAAGGTGCTGGCACTAGCCC
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Task1_train_810
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Mutation context: Chromosome 1, Gene MPL (MPL proto-oncogene, thrombopoietin receptor). Determine if this variant is likely to be benign or pathogenic. Mention the disease if applicable.
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Pathogenic; Congenital amegakaryocytic thrombocytopenia 1
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AGGTTCTGGCCGGGTGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGTGGGCAGATCACAAGGTCAGGAGATCAAGACCATCCTGGCTAACACAGTGAAACCCCATCTCTACTAAAAATACAAAAAAAATTAGCCAGGCATGGTGGTGGGCGCCTGTAGTCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATGGTGTGAACCTGAGAGGCGGAGCTTGCAGTGAGCCAAGACCGCGCCACTGCACTCCAGCCTGGGCCACAGAGGGAGACTCCATCTCAAAAACAAAACAAAACAAAACAAAACAAAACAAAACAAAACAACAAAAAAATGGAGGCCCCTCCAATACATCTTAATCCATATTCTTCCCAGATAGACTACCCTCTCCAGTAACTTACTAATAAGCTCCACTGATTTTCTTCATTCATTCATTCAGCTAATTTACTGAGCACCTACTATGGGTCAGACACTATTCTACACCCTAGAAATACAGGAGTGAATAAATAGACAAACTCTCTTTTCTCGGGGACCATATGTTCTAGTGGGGTGAGACAGACAAAAAGAAATATACATAACAATGTAATAAATGTACAACAAGTCAAATACTATAAGGAAAAATGAAGTACAGCAGGAGATAGCCTGTCATGGGGAAAGGAAGCAGCACTACAGTGGTCCCCTCTTATCCACAGTTTCACTTTTTGTGGTTTCAGTTACACGCAGTCAATTAAGGTCTGAAAAAAATTACATGGAAAATTCCAGAAATAAACAATTCATGTATTTTAAATTGTAAGTAGCACGATGAAATCACTTGCCATGCCGCTCTGTCCCACCCGGGATGTAAATCATCCCTTTGTCCAGCATCTCCACGCTGTATATGCTCCCTGCCCCATAGTCACTTAGCAGCCATCTTGCTTATCAGATTGACTCGTTGAGGTATTGCAGAGCTGTGTTCAAGTAACCCTCATTTTAGTTAATAATGGCCCCAAAGTACAAGAGTAGTGATGTTGGCATATTGTTCTAATTGTTCTATTTTATTAGTAGTCATTATTAATCTCTTACTGTGCCTAATTTATAAACTTTATTGTAGGTATGTACGTATAGAAAAAACATCTGCTGGGAGTCTTGAAACATATCCCCTGCAGATAAAGAGGGACTACTGTGTTTCAGGCAAGGTAGTCAGGGATGACATTTGAACAGAGGCCTACAATGAGGTGAGGGAATGAATCCAGTGTTCCAGACAGAACAAACATTGGAGTGTTTGAGGAAACTGCAGCACCCTTTGTTGAACCTGCCCACCACTGACTTCCCTCCCCTACCTGAGGTTTTCTTCTTACTCTACTCCCCTGCCCAACTTTATTGCCTTGACCATGCTCTTATATCTCCAAGCCTTACTCCCCGGCCTCACTGCTCCCCCACCCCAACTGCTGTCCTCCTCCCTGCCAATCCACTGCCATGGCTCAGTCTGCTTCTCTTCCTTCTCCCCCAGGAGACTGAGGCATGCCCTGTGGCCCTCACTTCCAGACCTGCACCGGGTCCTAGGCCAGTACCTTAGGGACACTGCAGCCCTGAGCCCGGTGAGTGTGCTTCCCTCCCCTGTGCCCACCACCAACCCTGCCTGGTACTGGATCCTTGCCCCAACAATACAACTTGTTCAAGGTCCTTGCCCTACCAGTGTGCCATCCCCAGGCACTACCCCAGCACTACCCCAGCCCTTCTCCTTCCTGTACAGTCCAGCCCCTCCTCCCACAGGATCTGCTTTAATCCAGCGCCTCTCCTCATCTCTCCCAGCCCAAGGCCACAGTCTCAGATACCTGTGAAGAAGTGGAACCCAGCCTCCTTGAAATCCTCCCCAAGTCCTCAGAGAGGACTCCTTTGCCCCTGTGTTCCTCCCAGGCCCAGATGGACTACCGAAGATTGCAGCCTTCTTGCCTGGGGACCATGCCCCTGTCTGTGTGCCCACCCATGGCTGAGTCAGGGTCCTGCTGTACCACCCACATTGCCAACCATTCCTACCTACCACTAAGCTATTGGCAGCAGCCTTGAGGACAGGCTCCTCACTCCCAGTTCCCTGGACAGAGCTAAACTCTCGAGACTTCTCTGTGAACTTCCCTACCCTACCCCCACAACACAAGCACCCCAGACCTCACCTCCATCCCCCTCTGTCTGCCCTCACAATTAGGCTTCATTGCACTGATCTTACTCTACTGCTGCTGACATAAAACCAGGACCCTTTCTCCACAGGCAGGCTCATTTCACTAAGCTCCTCCTTTACTTTCTCTCTCCTCTTTGATGTCAAACGCCTTGAAAACAAGCCTCCACTTCCCCACACTTCCCATTTACTCTTGAGACTACTTCAATTAGTTCCCCTACTACACTTTGCTAGTGAAACTGCCCAGGCAAAGTGCACCTCAAATCTTCTAATTCCAAGATCCAATAGGATCTCGTTAATCATCAGTTCCTTTGATCTCGCTGTAAGATTTGTCAAGGCTGACTACTCACTTCTCCTTTAAATTCTTTCCTACCTTGGTCCTGCCTCTTTGAGTATATTAGTAGGTTTTTTTTATTTGTTTGAGACAGGGTCTCACTCTGTCACCCAGGCTGCAGTGCAATGGCGCGATCTCAGCTCACTGCAACCTCCACCTCCGGGTTCAAGCGATTCTTGTGCCTCGGCCTCCCTAGTAGCTGGGATTACAGGCGCACACCACCACACACAGCTAATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTAGACGGAGCCTTGCTCTGTTGCCAGACTGGAGTGCAGTGGCACGATCTCGGCTCACTGCAACCTCTGCCTCCCGGGTTCAAGCCATTCTGCCTCAGCCTCCCAAGTAGCTGGGAGTACAGGCGTCTGCCACCATGCCTAATTTTTTTCTATTTTTAGGAGAGACCGGTTTTCACCACGTTGGCCAGGATGGTCTCGATATCCTGATCTCGTGATCCGCCTGCCTCTGCCTCCCAAAGTGCTGGGATTACAGGTGTGACCCACTGCGCACAGCCCCAGCTAATTTTCATATTTTTAGTAGAGACAGGGTTTTGCCATGTTGCCCAGGCTGGTCTTGAACTCCTAACCTCGGGTGATCCACCCACCTTGGCCTCCCAAAGTGTTAGGATTACAGGCATGAGCCACTGCGCCCGGCTGAGTGTACTAGTAGTTAAGAGAATAAACTAGATCTAGAATCAGAGCTGGATTCAATTCCTGTCCTTCACATTTACTAGCTGTGCAACCTTGGGCACATAACTTAATGTCTTTGAGCCTTAGTTTTTTCATCTGTAAAACAGGGATAATAACAGCACCCCATAGAGTTGTGACGAGGATTGAGATAATCTAAGTAAAGCACAGTCCCTAGGACATAGTAAATGATTCATATATCCGAACTACTGTTATAATTATTCCTTCTTACTCTCCTCTTCTAGCATTTCTTCCAATTATTACAGTCCTTCAAGATTCCATTTCTTAACAGTCTCCAATCCCATCTATTCTCTGCCTTTACTATATGTTGACCATTCCAAAGTTCTTATCTCTAGCTCAGACATCTACTACAGCACTGTGATGCTTTATGCAACTAACTGTTTACATATCTGTCCCCTGCTACTAGATTGTGAGCTCCTTGAGGGAAAGGAACATGATTTATTTGTCCTTTTCCCCCAGCACCTAGAGTAGTGCTTGGTGCATGATAGTAGGCCTTCAATAAATTTTTTCTAAATGAATGAAATCTTTCTGGACAAGGTTACCTTAATCCCATGCCAGCTGTCCTCATCCTCTAAACCGTTCATAGGCAGCAGTAAATGTGCTCAGACAGTTCTGATTATGGACTCTCCTAACACATTCTAATTCTCAAACAAATGGTTTTGTTGTCATTGTTTTTTCTGGCTCCAAATATACCCACTGTATCAGTCAGGGTCTTGGAAGAAATAGATGACACACTCAAATTGGGTAATATGATGACAGTGTAATAAACGGCAAACAGTATTTACAAAGATGAGGGCAAGATTTGGGAAAACCATCAAGGAACAGTGCAAGTGCCTCTGAGGCTAACAACAACAAGGTGCTGGCACTAGCCC
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AGGTTCTGGCCGGGTGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGTGGGCAGATCACAAGGTCAGGAGATCAAGACCATCCTGGCTAACACAGTGAAACCCCATCTCTACTAAAAATACAAAAAAAATTAGCCAGGCATGGTGGTGGGCGCCTGTAGTCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATGGTGTGAACCTGAGAGGCGGAGCTTGCAGTGAGCCAAGACCGCGCCACTGCACTCCAGCCTGGGCCACAGAGGGAGACTCCATCTCAAAAACAAAACAAAACAAAACAAAACAAAACAAAACAAAACAACAAAAAAATGGAGGCCCCTCCAATACATCTTAATCCATATTCTTCCCAGATAGACTACCCTCTCCAGTAACTTACTAATAAGCTCCACTGATTTTCTTCATTCATTCATTCAGCTAATTTACTGAGCACCTACTATGGGTCAGACACTATTCTACACCCTAGAAATACAGGAGTGAATAAATAGACAAACTCTCTTTTCTCGGGGACCATATGTTCTAGTGGGGTGAGACAGACAAAAAGAAATATACATAACAATGTAATAAATGTACAACAAGTCAAATACTATAAGGAAAAATGAAGTACAGCAGGAGATAGCCTGTCATGGGGAAAGGAAGCAGCACTACAGTGGTCCCCTCTTATCCACAGTTTCACTTTTTGTGGTTTCAGTTACACGCAGTCAATTAAGGTCTGAAAAAAATTACATGGAAAATTCCAGAAATAAACAATTCATGTATTTTAAATTGTAAGTAGCACGATGAAATCACTTGCCATGCCGCTCTGTCCCACCCGGGATGTAAATCATCCCTTTGTCCAGCATCTCCACGCTGTATATGCTCCCTGCCCCATAGTCACTTAGCAGCCATCTTGCTTATCAGATTGACTCGTTGAGGTATTGCAGAGCTGTGTTCAAGTAACCCTCATTTTAGTTAATAATGGCCCCAAAGTACAAGAGTAGTGATGTTGGCATATTGTTCTAATTGTTCTATTTTATTAGTAGTCATTATTAATCTCTTACTGTGCCTAATTTATAAACTTTATTGTAGGTATGTACGTATAGAAAAAACATCTGCTGGGAGTCTTGAAACATATCCCCTGCAGATAAAGAGGGACTACTGTGTTTCAGGCAAGGTAGTCAGGGATGACATTTGAACAGAGGCCTACAATGAGGTGAGGGAATGAATCCAGTGTTCCAGACAGAACAAACATTGGAGTGTTTGAGGAAACTGCAGCACCCTTTGTTGAACCTGCCCACCACTGACTTCCCTCCCCTACCTGAGGTTTTCTTCTTACTCTACTCCCCTGCCCAACTTTATTGCCTTGACCATGCTCTTATATCTCCAAGCCTTACTCCCCGGCCTCACTGCTCCCCCACCCCAACTGCTGTCCTCCTCCCTGCCAATCCACTGCCATGGCTCAGTCTGCTTCTCTTCCTTCTCCCCCAGGAGACTGAGGCATGCCCTGTGGCCCTCACTTCCAGACCTGCACCGGGTCCTAGGCCAGTACCTTAGGGACACTGCAGCCCTGAGCCCGGTGAGTGTGCTTCCCTCCCCTGTGCCCACCACCAACCCTGCCTGGTACTGGATCCTTGCCCCAACAATACAACTTGTTCAAGGTCCTTGCCCTACCAGTGTGCCATCCCCAGGCACTACCCCAGCACTACCCCAGCCCTTCTCCTTCCTGTACAGTCCAGCCCCTCCTCCCACAGGATCTGCTTTAATCCAGCGCCTCTCCTCATCTCTCCCAGCCCAAGGCCACAGTCTCAGATACCTGTGAAGAAGTGGAACCCAGCCTCCTTGAAATCCTCCCCAAGTCCTCAGAGAGGACTCCTTTGCCCCTGTGTTCCTCCCAGGCCCAGATGGACTACCGAAGATTGCAGCCTTCTTGCCTGGGGACCATGCCCCTGTCTGTGTGCCCACCCATGGCTGAGTCAGGGTCCTGCTGTACCACCCACATTGCCAACCATTCCTACCTACCACTAAGCTATTGGCAGCAGCTTTGAGGACAGGCTCCTCACTCCCAGTTCCCTGGACAGAGCTAAACTCTCGAGACTTCTCTGTGAACTTCCCTACCCTACCCCCACAACACAAGCACCCCAGACCTCACCTCCATCCCCCTCTGTCTGCCCTCACAATTAGGCTTCATTGCACTGATCTTACTCTACTGCTGCTGACATAAAACCAGGACCCTTTCTCCACAGGCAGGCTCATTTCACTAAGCTCCTCCTTTACTTTCTCTCTCCTCTTTGATGTCAAACGCCTTGAAAACAAGCCTCCACTTCCCCACACTTCCCATTTACTCTTGAGACTACTTCAATTAGTTCCCCTACTACACTTTGCTAGTGAAACTGCCCAGGCAAAGTGCACCTCAAATCTTCTAATTCCAAGATCCAATAGGATCTCGTTAATCATCAGTTCCTTTGATCTCGCTGTAAGATTTGTCAAGGCTGACTACTCACTTCTCCTTTAAATTCTTTCCTACCTTGGTCCTGCCTCTTTGAGTATATTAGTAGGTTTTTTTTATTTGTTTGAGACAGGGTCTCACTCTGTCACCCAGGCTGCAGTGCAATGGCGCGATCTCAGCTCACTGCAACCTCCACCTCCGGGTTCAAGCGATTCTTGTGCCTCGGCCTCCCTAGTAGCTGGGATTACAGGCGCACACCACCACACACAGCTAATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTAGACGGAGCCTTGCTCTGTTGCCAGACTGGAGTGCAGTGGCACGATCTCGGCTCACTGCAACCTCTGCCTCCCGGGTTCAAGCCATTCTGCCTCAGCCTCCCAAGTAGCTGGGAGTACAGGCGTCTGCCACCATGCCTAATTTTTTTCTATTTTTAGGAGAGACCGGTTTTCACCACGTTGGCCAGGATGGTCTCGATATCCTGATCTCGTGATCCGCCTGCCTCTGCCTCCCAAAGTGCTGGGATTACAGGTGTGACCCACTGCGCACAGCCCCAGCTAATTTTCATATTTTTAGTAGAGACAGGGTTTTGCCATGTTGCCCAGGCTGGTCTTGAACTCCTAACCTCGGGTGATCCACCCACCTTGGCCTCCCAAAGTGTTAGGATTACAGGCATGAGCCACTGCGCCCGGCTGAGTGTACTAGTAGTTAAGAGAATAAACTAGATCTAGAATCAGAGCTGGATTCAATTCCTGTCCTTCACATTTACTAGCTGTGCAACCTTGGGCACATAACTTAATGTCTTTGAGCCTTAGTTTTTTCATCTGTAAAACAGGGATAATAACAGCACCCCATAGAGTTGTGACGAGGATTGAGATAATCTAAGTAAAGCACAGTCCCTAGGACATAGTAAATGATTCATATATCCGAACTACTGTTATAATTATTCCTTCTTACTCTCCTCTTCTAGCATTTCTTCCAATTATTACAGTCCTTCAAGATTCCATTTCTTAACAGTCTCCAATCCCATCTATTCTCTGCCTTTACTATATGTTGACCATTCCAAAGTTCTTATCTCTAGCTCAGACATCTACTACAGCACTGTGATGCTTTATGCAACTAACTGTTTACATATCTGTCCCCTGCTACTAGATTGTGAGCTCCTTGAGGGAAAGGAACATGATTTATTTGTCCTTTTCCCCCAGCACCTAGAGTAGTGCTTGGTGCATGATAGTAGGCCTTCAATAAATTTTTTCTAAATGAATGAAATCTTTCTGGACAAGGTTACCTTAATCCCATGCCAGCTGTCCTCATCCTCTAAACCGTTCATAGGCAGCAGTAAATGTGCTCAGACAGTTCTGATTATGGACTCTCCTAACACATTCTAATTCTCAAACAAATGGTTTTGTTGTCATTGTTTTTTCTGGCTCCAAATATACCCACTGTATCAGTCAGGGTCTTGGAAGAAATAGATGACACACTCAAATTGGGTAATATGATGACAGTGTAATAAACGGCAAACAGTATTTACAAAGATGAGGGCAAGATTTGGGAAAACCATCAAGGAACAGTGCAAGTGCCTCTGAGGCTAACAACAACAAGGTGCTGGCACTAGCCC
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Task1_train_811
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Gene MPL (MPL proto-oncogene, thrombopoietin receptor) on Chromosome 1 is altered by this variant. Does this mutation result in a disease or is it benign?
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Pathogenic; Primary myelofibrosis
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AGGTTCTGGCCGGGTGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGTGGGCAGATCACAAGGTCAGGAGATCAAGACCATCCTGGCTAACACAGTGAAACCCCATCTCTACTAAAAATACAAAAAAAATTAGCCAGGCATGGTGGTGGGCGCCTGTAGTCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATGGTGTGAACCTGAGAGGCGGAGCTTGCAGTGAGCCAAGACCGCGCCACTGCACTCCAGCCTGGGCCACAGAGGGAGACTCCATCTCAAAAACAAAACAAAACAAAACAAAACAAAACAAAACAAAACAACAAAAAAATGGAGGCCCCTCCAATACATCTTAATCCATATTCTTCCCAGATAGACTACCCTCTCCAGTAACTTACTAATAAGCTCCACTGATTTTCTTCATTCATTCATTCAGCTAATTTACTGAGCACCTACTATGGGTCAGACACTATTCTACACCCTAGAAATACAGGAGTGAATAAATAGACAAACTCTCTTTTCTCGGGGACCATATGTTCTAGTGGGGTGAGACAGACAAAAAGAAATATACATAACAATGTAATAAATGTACAACAAGTCAAATACTATAAGGAAAAATGAAGTACAGCAGGAGATAGCCTGTCATGGGGAAAGGAAGCAGCACTACAGTGGTCCCCTCTTATCCACAGTTTCACTTTTTGTGGTTTCAGTTACACGCAGTCAATTAAGGTCTGAAAAAAATTACATGGAAAATTCCAGAAATAAACAATTCATGTATTTTAAATTGTAAGTAGCACGATGAAATCACTTGCCATGCCGCTCTGTCCCACCCGGGATGTAAATCATCCCTTTGTCCAGCATCTCCACGCTGTATATGCTCCCTGCCCCATAGTCACTTAGCAGCCATCTTGCTTATCAGATTGACTCGTTGAGGTATTGCAGAGCTGTGTTCAAGTAACCCTCATTTTAGTTAATAATGGCCCCAAAGTACAAGAGTAGTGATGTTGGCATATTGTTCTAATTGTTCTATTTTATTAGTAGTCATTATTAATCTCTTACTGTGCCTAATTTATAAACTTTATTGTAGGTATGTACGTATAGAAAAAACATCTGCTGGGAGTCTTGAAACATATCCCCTGCAGATAAAGAGGGACTACTGTGTTTCAGGCAAGGTAGTCAGGGATGACATTTGAACAGAGGCCTACAATGAGGTGAGGGAATGAATCCAGTGTTCCAGACAGAACAAACATTGGAGTGTTTGAGGAAACTGCAGCACCCTTTGTTGAACCTGCCCACCACTGACTTCCCTCCCCTACCTGAGGTTTTCTTCTTACTCTACTCCCCTGCCCAACTTTATTGCCTTGACCATGCTCTTATATCTCCAAGCCTTACTCCCCGGCCTCACTGCTCCCCCACCCCAACTGCTGTCCTCCTCCCTGCCAATCCACTGCCATGGCTCAGTCTGCTTCTCTTCCTTCTCCCCCAGGAGACTGAGGCATGCCCTGTGGCCCTCACTTCCAGACCTGCACCGGGTCCTAGGCCAGTACCTTAGGGACACTGCAGCCCTGAGCCCGGTGAGTGTGCTTCCCTCCCCTGTGCCCACCACCAACCCTGCCTGGTACTGGATCCTTGCCCCAACAATACAACTTGTTCAAGGTCCTTGCCCTACCAGTGTGCCATCCCCAGGCACTACCCCAGCACTACCCCAGCCCTTCTCCTTCCTGTACAGTCCAGCCCCTCCTCCCACAGGATCTGCTTTAATCCAGCGCCTCTCCTCATCTCTCCCAGCCCAAGGCCACAGTCTCAGATACCTGTGAAGAAGTGGAACCCAGCCTCCTTGAAATCCTCCCCAAGTCCTCAGAGAGGACTCCTTTGCCCCTGTGTTCCTCCCAGGCCCAGATGGACTACCGAAGATTGCAGCCTTCTTGCCTGGGGACCATGCCCCTGTCTGTGTGCCCACCCATGGCTGAGTCAGGGTCCTGCTGTACCACCCACATTGCCAACCATTCCTACCTACCACTAAGCTATTGGCAGCAGCCTTGAGGACAGGCTCCTCACTCCCAGTTCCCTGGACAGAGCTAAACTCTCGAGACTTCTCTGTGAACTTCCCTACCCTACCCCCACAACACAAGCACCCCAGACCTCACCTCCATCCCCCTCTGTCTGCCCTCACAATTAGGCTTCATTGCACTGATCTTACTCTACTGCTGCTGACATAAAACCAGGACCCTTTCTCCACAGGCAGGCTCATTTCACTAAGCTCCTCCTTTACTTTCTCTCTCCTCTTTGATGTCAAACGCCTTGAAAACAAGCCTCCACTTCCCCACACTTCCCATTTACTCTTGAGACTACTTCAATTAGTTCCCCTACTACACTTTGCTAGTGAAACTGCCCAGGCAAAGTGCACCTCAAATCTTCTAATTCCAAGATCCAATAGGATCTCGTTAATCATCAGTTCCTTTGATCTCGCTGTAAGATTTGTCAAGGCTGACTACTCACTTCTCCTTTAAATTCTTTCCTACCTTGGTCCTGCCTCTTTGAGTATATTAGTAGGTTTTTTTTATTTGTTTGAGACAGGGTCTCACTCTGTCACCCAGGCTGCAGTGCAATGGCGCGATCTCAGCTCACTGCAACCTCCACCTCCGGGTTCAAGCGATTCTTGTGCCTCGGCCTCCCTAGTAGCTGGGATTACAGGCGCACACCACCACACACAGCTAATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTAGACGGAGCCTTGCTCTGTTGCCAGACTGGAGTGCAGTGGCACGATCTCGGCTCACTGCAACCTCTGCCTCCCGGGTTCAAGCCATTCTGCCTCAGCCTCCCAAGTAGCTGGGAGTACAGGCGTCTGCCACCATGCCTAATTTTTTTCTATTTTTAGGAGAGACCGGTTTTCACCACGTTGGCCAGGATGGTCTCGATATCCTGATCTCGTGATCCGCCTGCCTCTGCCTCCCAAAGTGCTGGGATTACAGGTGTGACCCACTGCGCACAGCCCCAGCTAATTTTCATATTTTTAGTAGAGACAGGGTTTTGCCATGTTGCCCAGGCTGGTCTTGAACTCCTAACCTCGGGTGATCCACCCACCTTGGCCTCCCAAAGTGTTAGGATTACAGGCATGAGCCACTGCGCCCGGCTGAGTGTACTAGTAGTTAAGAGAATAAACTAGATCTAGAATCAGAGCTGGATTCAATTCCTGTCCTTCACATTTACTAGCTGTGCAACCTTGGGCACATAACTTAATGTCTTTGAGCCTTAGTTTTTTCATCTGTAAAACAGGGATAATAACAGCACCCCATAGAGTTGTGACGAGGATTGAGATAATCTAAGTAAAGCACAGTCCCTAGGACATAGTAAATGATTCATATATCCGAACTACTGTTATAATTATTCCTTCTTACTCTCCTCTTCTAGCATTTCTTCCAATTATTACAGTCCTTCAAGATTCCATTTCTTAACAGTCTCCAATCCCATCTATTCTCTGCCTTTACTATATGTTGACCATTCCAAAGTTCTTATCTCTAGCTCAGACATCTACTACAGCACTGTGATGCTTTATGCAACTAACTGTTTACATATCTGTCCCCTGCTACTAGATTGTGAGCTCCTTGAGGGAAAGGAACATGATTTATTTGTCCTTTTCCCCCAGCACCTAGAGTAGTGCTTGGTGCATGATAGTAGGCCTTCAATAAATTTTTTCTAAATGAATGAAATCTTTCTGGACAAGGTTACCTTAATCCCATGCCAGCTGTCCTCATCCTCTAAACCGTTCATAGGCAGCAGTAAATGTGCTCAGACAGTTCTGATTATGGACTCTCCTAACACATTCTAATTCTCAAACAAATGGTTTTGTTGTCATTGTTTTTTCTGGCTCCAAATATACCCACTGTATCAGTCAGGGTCTTGGAAGAAATAGATGACACACTCAAATTGGGTAATATGATGACAGTGTAATAAACGGCAAACAGTATTTACAAAGATGAGGGCAAGATTTGGGAAAACCATCAAGGAACAGTGCAAGTGCCTCTGAGGCTAACAACAACAAGGTGCTGGCACTAGCCC
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AGGTTCTGGCCGGGTGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGTGGGCAGATCACAAGGTCAGGAGATCAAGACCATCCTGGCTAACACAGTGAAACCCCATCTCTACTAAAAATACAAAAAAAATTAGCCAGGCATGGTGGTGGGCGCCTGTAGTCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATGGTGTGAACCTGAGAGGCGGAGCTTGCAGTGAGCCAAGACCGCGCCACTGCACTCCAGCCTGGGCCACAGAGGGAGACTCCATCTCAAAAACAAAACAAAACAAAACAAAACAAAACAAAACAAAACAACAAAAAAATGGAGGCCCCTCCAATACATCTTAATCCATATTCTTCCCAGATAGACTACCCTCTCCAGTAACTTACTAATAAGCTCCACTGATTTTCTTCATTCATTCATTCAGCTAATTTACTGAGCACCTACTATGGGTCAGACACTATTCTACACCCTAGAAATACAGGAGTGAATAAATAGACAAACTCTCTTTTCTCGGGGACCATATGTTCTAGTGGGGTGAGACAGACAAAAAGAAATATACATAACAATGTAATAAATGTACAACAAGTCAAATACTATAAGGAAAAATGAAGTACAGCAGGAGATAGCCTGTCATGGGGAAAGGAAGCAGCACTACAGTGGTCCCCTCTTATCCACAGTTTCACTTTTTGTGGTTTCAGTTACACGCAGTCAATTAAGGTCTGAAAAAAATTACATGGAAAATTCCAGAAATAAACAATTCATGTATTTTAAATTGTAAGTAGCACGATGAAATCACTTGCCATGCCGCTCTGTCCCACCCGGGATGTAAATCATCCCTTTGTCCAGCATCTCCACGCTGTATATGCTCCCTGCCCCATAGTCACTTAGCAGCCATCTTGCTTATCAGATTGACTCGTTGAGGTATTGCAGAGCTGTGTTCAAGTAACCCTCATTTTAGTTAATAATGGCCCCAAAGTACAAGAGTAGTGATGTTGGCATATTGTTCTAATTGTTCTATTTTATTAGTAGTCATTATTAATCTCTTACTGTGCCTAATTTATAAACTTTATTGTAGGTATGTACGTATAGAAAAAACATCTGCTGGGAGTCTTGAAACATATCCCCTGCAGATAAAGAGGGACTACTGTGTTTCAGGCAAGGTAGTCAGGGATGACATTTGAACAGAGGCCTACAATGAGGTGAGGGAATGAATCCAGTGTTCCAGACAGAACAAACATTGGAGTGTTTGAGGAAACTGCAGCACCCTTTGTTGAACCTGCCCACCACTGACTTCCCTCCCCTACCTGAGGTTTTCTTCTTACTCTACTCCCCTGCCCAACTTTATTGCCTTGACCATGCTCTTATATCTCCAAGCCTTACTCCCCGGCCTCACTGCTCCCCCACCCCAACTGCTGTCCTCCTCCCTGCCAATCCACTGCCATGGCTCAGTCTGCTTCTCTTCCTTCTCCCCCAGGAGACTGAGGCATGCCCTGTGGCCCTCACTTCCAGACCTGCACCGGGTCCTAGGCCAGTACCTTAGGGACACTGCAGCCCTGAGCCCGGTGAGTGTGCTTCCCTCCCCTGTGCCCACCACCAACCCTGCCTGGTACTGGATCCTTGCCCCAACAATACAACTTGTTCAAGGTCCTTGCCCTACCAGTGTGCCATCCCCAGGCACTACCCCAGCACTACCCCAGCCCTTCTCCTTCCTGTACAGTCCAGCCCCTCCTCCCACAGGATCTGCTTTAATCCAGCGCCTCTCCTCATCTCTCCCAGCCCAAGGCCACAGTCTCAGATACCTGTGAAGAAGTGGAACCCAGCCTCCTTGAAATCCTCCCCAAGTCCTCAGAGAGGACTCCTTTGCCCCTGTGTTCCTCCCAGGCCCAGATGGACTACCGAAGATTGCAGCCTTCTTGCCTGGGGACCATGCCCCTGTCTGTGTGCCCACCCATGGCTGAGTCAGGGTCCTGCTGTACCACCCACATTGCCAACCATTCCTACCTACCACTAAGCTATTGGCAGCAGCTTTGAGGACAGGCTCCTCACTCCCAGTTCCCTGGACAGAGCTAAACTCTCGAGACTTCTCTGTGAACTTCCCTACCCTACCCCCACAACACAAGCACCCCAGACCTCACCTCCATCCCCCTCTGTCTGCCCTCACAATTAGGCTTCATTGCACTGATCTTACTCTACTGCTGCTGACATAAAACCAGGACCCTTTCTCCACAGGCAGGCTCATTTCACTAAGCTCCTCCTTTACTTTCTCTCTCCTCTTTGATGTCAAACGCCTTGAAAACAAGCCTCCACTTCCCCACACTTCCCATTTACTCTTGAGACTACTTCAATTAGTTCCCCTACTACACTTTGCTAGTGAAACTGCCCAGGCAAAGTGCACCTCAAATCTTCTAATTCCAAGATCCAATAGGATCTCGTTAATCATCAGTTCCTTTGATCTCGCTGTAAGATTTGTCAAGGCTGACTACTCACTTCTCCTTTAAATTCTTTCCTACCTTGGTCCTGCCTCTTTGAGTATATTAGTAGGTTTTTTTTATTTGTTTGAGACAGGGTCTCACTCTGTCACCCAGGCTGCAGTGCAATGGCGCGATCTCAGCTCACTGCAACCTCCACCTCCGGGTTCAAGCGATTCTTGTGCCTCGGCCTCCCTAGTAGCTGGGATTACAGGCGCACACCACCACACACAGCTAATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTAGACGGAGCCTTGCTCTGTTGCCAGACTGGAGTGCAGTGGCACGATCTCGGCTCACTGCAACCTCTGCCTCCCGGGTTCAAGCCATTCTGCCTCAGCCTCCCAAGTAGCTGGGAGTACAGGCGTCTGCCACCATGCCTAATTTTTTTCTATTTTTAGGAGAGACCGGTTTTCACCACGTTGGCCAGGATGGTCTCGATATCCTGATCTCGTGATCCGCCTGCCTCTGCCTCCCAAAGTGCTGGGATTACAGGTGTGACCCACTGCGCACAGCCCCAGCTAATTTTCATATTTTTAGTAGAGACAGGGTTTTGCCATGTTGCCCAGGCTGGTCTTGAACTCCTAACCTCGGGTGATCCACCCACCTTGGCCTCCCAAAGTGTTAGGATTACAGGCATGAGCCACTGCGCCCGGCTGAGTGTACTAGTAGTTAAGAGAATAAACTAGATCTAGAATCAGAGCTGGATTCAATTCCTGTCCTTCACATTTACTAGCTGTGCAACCTTGGGCACATAACTTAATGTCTTTGAGCCTTAGTTTTTTCATCTGTAAAACAGGGATAATAACAGCACCCCATAGAGTTGTGACGAGGATTGAGATAATCTAAGTAAAGCACAGTCCCTAGGACATAGTAAATGATTCATATATCCGAACTACTGTTATAATTATTCCTTCTTACTCTCCTCTTCTAGCATTTCTTCCAATTATTACAGTCCTTCAAGATTCCATTTCTTAACAGTCTCCAATCCCATCTATTCTCTGCCTTTACTATATGTTGACCATTCCAAAGTTCTTATCTCTAGCTCAGACATCTACTACAGCACTGTGATGCTTTATGCAACTAACTGTTTACATATCTGTCCCCTGCTACTAGATTGTGAGCTCCTTGAGGGAAAGGAACATGATTTATTTGTCCTTTTCCCCCAGCACCTAGAGTAGTGCTTGGTGCATGATAGTAGGCCTTCAATAAATTTTTTCTAAATGAATGAAATCTTTCTGGACAAGGTTACCTTAATCCCATGCCAGCTGTCCTCATCCTCTAAACCGTTCATAGGCAGCAGTAAATGTGCTCAGACAGTTCTGATTATGGACTCTCCTAACACATTCTAATTCTCAAACAAATGGTTTTGTTGTCATTGTTTTTTCTGGCTCCAAATATACCCACTGTATCAGTCAGGGTCTTGGAAGAAATAGATGACACACTCAAATTGGGTAATATGATGACAGTGTAATAAACGGCAAACAGTATTTACAAAGATGAGGGCAAGATTTGGGAAAACCATCAAGGAACAGTGCAAGTGCCTCTGAGGCTAACAACAACAAGGTGCTGGCACTAGCCC
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Task1_train_812
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Assess the clinical impact of this variant on gene MPL (MPL proto-oncogene, thrombopoietin receptor), found on Chromosome 1. State whether it’s pathogenic or benign, and the disease if applicable.
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Pathogenic; Congenital amegakaryocytic thrombocytopenia
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AGGTTCTGGCCGGGTGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGTGGGCAGATCACAAGGTCAGGAGATCAAGACCATCCTGGCTAACACAGTGAAACCCCATCTCTACTAAAAATACAAAAAAAATTAGCCAGGCATGGTGGTGGGCGCCTGTAGTCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATGGTGTGAACCTGAGAGGCGGAGCTTGCAGTGAGCCAAGACCGCGCCACTGCACTCCAGCCTGGGCCACAGAGGGAGACTCCATCTCAAAAACAAAACAAAACAAAACAAAACAAAACAAAACAAAACAACAAAAAAATGGAGGCCCCTCCAATACATCTTAATCCATATTCTTCCCAGATAGACTACCCTCTCCAGTAACTTACTAATAAGCTCCACTGATTTTCTTCATTCATTCATTCAGCTAATTTACTGAGCACCTACTATGGGTCAGACACTATTCTACACCCTAGAAATACAGGAGTGAATAAATAGACAAACTCTCTTTTCTCGGGGACCATATGTTCTAGTGGGGTGAGACAGACAAAAAGAAATATACATAACAATGTAATAAATGTACAACAAGTCAAATACTATAAGGAAAAATGAAGTACAGCAGGAGATAGCCTGTCATGGGGAAAGGAAGCAGCACTACAGTGGTCCCCTCTTATCCACAGTTTCACTTTTTGTGGTTTCAGTTACACGCAGTCAATTAAGGTCTGAAAAAAATTACATGGAAAATTCCAGAAATAAACAATTCATGTATTTTAAATTGTAAGTAGCACGATGAAATCACTTGCCATGCCGCTCTGTCCCACCCGGGATGTAAATCATCCCTTTGTCCAGCATCTCCACGCTGTATATGCTCCCTGCCCCATAGTCACTTAGCAGCCATCTTGCTTATCAGATTGACTCGTTGAGGTATTGCAGAGCTGTGTTCAAGTAACCCTCATTTTAGTTAATAATGGCCCCAAAGTACAAGAGTAGTGATGTTGGCATATTGTTCTAATTGTTCTATTTTATTAGTAGTCATTATTAATCTCTTACTGTGCCTAATTTATAAACTTTATTGTAGGTATGTACGTATAGAAAAAACATCTGCTGGGAGTCTTGAAACATATCCCCTGCAGATAAAGAGGGACTACTGTGTTTCAGGCAAGGTAGTCAGGGATGACATTTGAACAGAGGCCTACAATGAGGTGAGGGAATGAATCCAGTGTTCCAGACAGAACAAACATTGGAGTGTTTGAGGAAACTGCAGCACCCTTTGTTGAACCTGCCCACCACTGACTTCCCTCCCCTACCTGAGGTTTTCTTCTTACTCTACTCCCCTGCCCAACTTTATTGCCTTGACCATGCTCTTATATCTCCAAGCCTTACTCCCCGGCCTCACTGCTCCCCCACCCCAACTGCTGTCCTCCTCCCTGCCAATCCACTGCCATGGCTCAGTCTGCTTCTCTTCCTTCTCCCCCAGGAGACTGAGGCATGCCCTGTGGCCCTCACTTCCAGACCTGCACCGGGTCCTAGGCCAGTACCTTAGGGACACTGCAGCCCTGAGCCCGGTGAGTGTGCTTCCCTCCCCTGTGCCCACCACCAACCCTGCCTGGTACTGGATCCTTGCCCCAACAATACAACTTGTTCAAGGTCCTTGCCCTACCAGTGTGCCATCCCCAGGCACTACCCCAGCACTACCCCAGCCCTTCTCCTTCCTGTACAGTCCAGCCCCTCCTCCCACAGGATCTGCTTTAATCCAGCGCCTCTCCTCATCTCTCCCAGCCCAAGGCCACAGTCTCAGATACCTGTGAAGAAGTGGAACCCAGCCTCCTTGAAATCCTCCCCAAGTCCTCAGAGAGGACTCCTTTGCCCCTGTGTTCCTCCCAGGCCCAGATGGACTACCGAAGATTGCAGCCTTCTTGCCTGGGGACCATGCCCCTGTCTGTGTGCCCACCCATGGCTGAGTCAGGGTCCTGCTGTACCACCCACATTGCCAACCATTCCTACCTACCACTAAGCTATTGGCAGCAGCCTTGAGGACAGGCTCCTCACTCCCAGTTCCCTGGACAGAGCTAAACTCTCGAGACTTCTCTGTGAACTTCCCTACCCTACCCCCACAACACAAGCACCCCAGACCTCACCTCCATCCCCCTCTGTCTGCCCTCACAATTAGGCTTCATTGCACTGATCTTACTCTACTGCTGCTGACATAAAACCAGGACCCTTTCTCCACAGGCAGGCTCATTTCACTAAGCTCCTCCTTTACTTTCTCTCTCCTCTTTGATGTCAAACGCCTTGAAAACAAGCCTCCACTTCCCCACACTTCCCATTTACTCTTGAGACTACTTCAATTAGTTCCCCTACTACACTTTGCTAGTGAAACTGCCCAGGCAAAGTGCACCTCAAATCTTCTAATTCCAAGATCCAATAGGATCTCGTTAATCATCAGTTCCTTTGATCTCGCTGTAAGATTTGTCAAGGCTGACTACTCACTTCTCCTTTAAATTCTTTCCTACCTTGGTCCTGCCTCTTTGAGTATATTAGTAGGTTTTTTTTATTTGTTTGAGACAGGGTCTCACTCTGTCACCCAGGCTGCAGTGCAATGGCGCGATCTCAGCTCACTGCAACCTCCACCTCCGGGTTCAAGCGATTCTTGTGCCTCGGCCTCCCTAGTAGCTGGGATTACAGGCGCACACCACCACACACAGCTAATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTAGACGGAGCCTTGCTCTGTTGCCAGACTGGAGTGCAGTGGCACGATCTCGGCTCACTGCAACCTCTGCCTCCCGGGTTCAAGCCATTCTGCCTCAGCCTCCCAAGTAGCTGGGAGTACAGGCGTCTGCCACCATGCCTAATTTTTTTCTATTTTTAGGAGAGACCGGTTTTCACCACGTTGGCCAGGATGGTCTCGATATCCTGATCTCGTGATCCGCCTGCCTCTGCCTCCCAAAGTGCTGGGATTACAGGTGTGACCCACTGCGCACAGCCCCAGCTAATTTTCATATTTTTAGTAGAGACAGGGTTTTGCCATGTTGCCCAGGCTGGTCTTGAACTCCTAACCTCGGGTGATCCACCCACCTTGGCCTCCCAAAGTGTTAGGATTACAGGCATGAGCCACTGCGCCCGGCTGAGTGTACTAGTAGTTAAGAGAATAAACTAGATCTAGAATCAGAGCTGGATTCAATTCCTGTCCTTCACATTTACTAGCTGTGCAACCTTGGGCACATAACTTAATGTCTTTGAGCCTTAGTTTTTTCATCTGTAAAACAGGGATAATAACAGCACCCCATAGAGTTGTGACGAGGATTGAGATAATCTAAGTAAAGCACAGTCCCTAGGACATAGTAAATGATTCATATATCCGAACTACTGTTATAATTATTCCTTCTTACTCTCCTCTTCTAGCATTTCTTCCAATTATTACAGTCCTTCAAGATTCCATTTCTTAACAGTCTCCAATCCCATCTATTCTCTGCCTTTACTATATGTTGACCATTCCAAAGTTCTTATCTCTAGCTCAGACATCTACTACAGCACTGTGATGCTTTATGCAACTAACTGTTTACATATCTGTCCCCTGCTACTAGATTGTGAGCTCCTTGAGGGAAAGGAACATGATTTATTTGTCCTTTTCCCCCAGCACCTAGAGTAGTGCTTGGTGCATGATAGTAGGCCTTCAATAAATTTTTTCTAAATGAATGAAATCTTTCTGGACAAGGTTACCTTAATCCCATGCCAGCTGTCCTCATCCTCTAAACCGTTCATAGGCAGCAGTAAATGTGCTCAGACAGTTCTGATTATGGACTCTCCTAACACATTCTAATTCTCAAACAAATGGTTTTGTTGTCATTGTTTTTTCTGGCTCCAAATATACCCACTGTATCAGTCAGGGTCTTGGAAGAAATAGATGACACACTCAAATTGGGTAATATGATGACAGTGTAATAAACGGCAAACAGTATTTACAAAGATGAGGGCAAGATTTGGGAAAACCATCAAGGAACAGTGCAAGTGCCTCTGAGGCTAACAACAACAAGGTGCTGGCACTAGCCC
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AGGTTCTGGCCGGGTGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGTGGGCAGATCACAAGGTCAGGAGATCAAGACCATCCTGGCTAACACAGTGAAACCCCATCTCTACTAAAAATACAAAAAAAATTAGCCAGGCATGGTGGTGGGCGCCTGTAGTCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATGGTGTGAACCTGAGAGGCGGAGCTTGCAGTGAGCCAAGACCGCGCCACTGCACTCCAGCCTGGGCCACAGAGGGAGACTCCATCTCAAAAACAAAACAAAACAAAACAAAACAAAACAAAACAAAACAACAAAAAAATGGAGGCCCCTCCAATACATCTTAATCCATATTCTTCCCAGATAGACTACCCTCTCCAGTAACTTACTAATAAGCTCCACTGATTTTCTTCATTCATTCATTCAGCTAATTTACTGAGCACCTACTATGGGTCAGACACTATTCTACACCCTAGAAATACAGGAGTGAATAAATAGACAAACTCTCTTTTCTCGGGGACCATATGTTCTAGTGGGGTGAGACAGACAAAAAGAAATATACATAACAATGTAATAAATGTACAACAAGTCAAATACTATAAGGAAAAATGAAGTACAGCAGGAGATAGCCTGTCATGGGGAAAGGAAGCAGCACTACAGTGGTCCCCTCTTATCCACAGTTTCACTTTTTGTGGTTTCAGTTACACGCAGTCAATTAAGGTCTGAAAAAAATTACATGGAAAATTCCAGAAATAAACAATTCATGTATTTTAAATTGTAAGTAGCACGATGAAATCACTTGCCATGCCGCTCTGTCCCACCCGGGATGTAAATCATCCCTTTGTCCAGCATCTCCACGCTGTATATGCTCCCTGCCCCATAGTCACTTAGCAGCCATCTTGCTTATCAGATTGACTCGTTGAGGTATTGCAGAGCTGTGTTCAAGTAACCCTCATTTTAGTTAATAATGGCCCCAAAGTACAAGAGTAGTGATGTTGGCATATTGTTCTAATTGTTCTATTTTATTAGTAGTCATTATTAATCTCTTACTGTGCCTAATTTATAAACTTTATTGTAGGTATGTACGTATAGAAAAAACATCTGCTGGGAGTCTTGAAACATATCCCCTGCAGATAAAGAGGGACTACTGTGTTTCAGGCAAGGTAGTCAGGGATGACATTTGAACAGAGGCCTACAATGAGGTGAGGGAATGAATCCAGTGTTCCAGACAGAACAAACATTGGAGTGTTTGAGGAAACTGCAGCACCCTTTGTTGAACCTGCCCACCACTGACTTCCCTCCCCTACCTGAGGTTTTCTTCTTACTCTACTCCCCTGCCCAACTTTATTGCCTTGACCATGCTCTTATATCTCCAAGCCTTACTCCCCGGCCTCACTGCTCCCCCACCCCAACTGCTGTCCTCCTCCCTGCCAATCCACTGCCATGGCTCAGTCTGCTTCTCTTCCTTCTCCCCCAGGAGACTGAGGCATGCCCTGTGGCCCTCACTTCCAGACCTGCACCGGGTCCTAGGCCAGTACCTTAGGGACACTGCAGCCCTGAGCCCGGTGAGTGTGCTTCCCTCCCCTGTGCCCACCACCAACCCTGCCTGGTACTGGATCCTTGCCCCAACAATACAACTTGTTCAAGGTCCTTGCCCTACCAGTGTGCCATCCCCAGGCACTACCCCAGCACTACCCCAGCCCTTCTCCTTCCTGTACAGTCCAGCCCCTCCTCCCACAGGATCTGCTTTAATCCAGCGCCTCTCCTCATCTCTCCCAGCCCAAGGCCACAGTCTCAGATACCTGTGAAGAAGTGGAACCCAGCCTCCTTGAAATCCTCCCCAAGTCCTCAGAGAGGACTCCTTTGCCCCTGTGTTCCTCCCAGGCCCAGATGGACTACCGAAGATTGCAGCCTTCTTGCCTGGGGACCATGCCCCTGTCTGTGTGCCCACCCATGGCTGAGTCAGGGTCCTGCTGTACCACCCACATTGCCAACCATTCCTACCTACCACTAAGCTATTGGCAGCAGCTTTGAGGACAGGCTCCTCACTCCCAGTTCCCTGGACAGAGCTAAACTCTCGAGACTTCTCTGTGAACTTCCCTACCCTACCCCCACAACACAAGCACCCCAGACCTCACCTCCATCCCCCTCTGTCTGCCCTCACAATTAGGCTTCATTGCACTGATCTTACTCTACTGCTGCTGACATAAAACCAGGACCCTTTCTCCACAGGCAGGCTCATTTCACTAAGCTCCTCCTTTACTTTCTCTCTCCTCTTTGATGTCAAACGCCTTGAAAACAAGCCTCCACTTCCCCACACTTCCCATTTACTCTTGAGACTACTTCAATTAGTTCCCCTACTACACTTTGCTAGTGAAACTGCCCAGGCAAAGTGCACCTCAAATCTTCTAATTCCAAGATCCAATAGGATCTCGTTAATCATCAGTTCCTTTGATCTCGCTGTAAGATTTGTCAAGGCTGACTACTCACTTCTCCTTTAAATTCTTTCCTACCTTGGTCCTGCCTCTTTGAGTATATTAGTAGGTTTTTTTTATTTGTTTGAGACAGGGTCTCACTCTGTCACCCAGGCTGCAGTGCAATGGCGCGATCTCAGCTCACTGCAACCTCCACCTCCGGGTTCAAGCGATTCTTGTGCCTCGGCCTCCCTAGTAGCTGGGATTACAGGCGCACACCACCACACACAGCTAATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTAGACGGAGCCTTGCTCTGTTGCCAGACTGGAGTGCAGTGGCACGATCTCGGCTCACTGCAACCTCTGCCTCCCGGGTTCAAGCCATTCTGCCTCAGCCTCCCAAGTAGCTGGGAGTACAGGCGTCTGCCACCATGCCTAATTTTTTTCTATTTTTAGGAGAGACCGGTTTTCACCACGTTGGCCAGGATGGTCTCGATATCCTGATCTCGTGATCCGCCTGCCTCTGCCTCCCAAAGTGCTGGGATTACAGGTGTGACCCACTGCGCACAGCCCCAGCTAATTTTCATATTTTTAGTAGAGACAGGGTTTTGCCATGTTGCCCAGGCTGGTCTTGAACTCCTAACCTCGGGTGATCCACCCACCTTGGCCTCCCAAAGTGTTAGGATTACAGGCATGAGCCACTGCGCCCGGCTGAGTGTACTAGTAGTTAAGAGAATAAACTAGATCTAGAATCAGAGCTGGATTCAATTCCTGTCCTTCACATTTACTAGCTGTGCAACCTTGGGCACATAACTTAATGTCTTTGAGCCTTAGTTTTTTCATCTGTAAAACAGGGATAATAACAGCACCCCATAGAGTTGTGACGAGGATTGAGATAATCTAAGTAAAGCACAGTCCCTAGGACATAGTAAATGATTCATATATCCGAACTACTGTTATAATTATTCCTTCTTACTCTCCTCTTCTAGCATTTCTTCCAATTATTACAGTCCTTCAAGATTCCATTTCTTAACAGTCTCCAATCCCATCTATTCTCTGCCTTTACTATATGTTGACCATTCCAAAGTTCTTATCTCTAGCTCAGACATCTACTACAGCACTGTGATGCTTTATGCAACTAACTGTTTACATATCTGTCCCCTGCTACTAGATTGTGAGCTCCTTGAGGGAAAGGAACATGATTTATTTGTCCTTTTCCCCCAGCACCTAGAGTAGTGCTTGGTGCATGATAGTAGGCCTTCAATAAATTTTTTCTAAATGAATGAAATCTTTCTGGACAAGGTTACCTTAATCCCATGCCAGCTGTCCTCATCCTCTAAACCGTTCATAGGCAGCAGTAAATGTGCTCAGACAGTTCTGATTATGGACTCTCCTAACACATTCTAATTCTCAAACAAATGGTTTTGTTGTCATTGTTTTTTCTGGCTCCAAATATACCCACTGTATCAGTCAGGGTCTTGGAAGAAATAGATGACACACTCAAATTGGGTAATATGATGACAGTGTAATAAACGGCAAACAGTATTTACAAAGATGAGGGCAAGATTTGGGAAAACCATCAAGGAACAGTGCAAGTGCCTCTGAGGCTAACAACAACAAGGTGCTGGCACTAGCCC
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Task1_train_813
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A variant was discovered on Chromosome 1, affecting MPL (MPL proto-oncogene, thrombopoietin receptor). What is its functional impact — neutral or pathogenic? State the disease if pathogenic.
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Pathogenic; Essential thrombocythemia
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AGGTTCTGGCCGGGTGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGTGGGCAGATCACAAGGTCAGGAGATCAAGACCATCCTGGCTAACACAGTGAAACCCCATCTCTACTAAAAATACAAAAAAAATTAGCCAGGCATGGTGGTGGGCGCCTGTAGTCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATGGTGTGAACCTGAGAGGCGGAGCTTGCAGTGAGCCAAGACCGCGCCACTGCACTCCAGCCTGGGCCACAGAGGGAGACTCCATCTCAAAAACAAAACAAAACAAAACAAAACAAAACAAAACAAAACAACAAAAAAATGGAGGCCCCTCCAATACATCTTAATCCATATTCTTCCCAGATAGACTACCCTCTCCAGTAACTTACTAATAAGCTCCACTGATTTTCTTCATTCATTCATTCAGCTAATTTACTGAGCACCTACTATGGGTCAGACACTATTCTACACCCTAGAAATACAGGAGTGAATAAATAGACAAACTCTCTTTTCTCGGGGACCATATGTTCTAGTGGGGTGAGACAGACAAAAAGAAATATACATAACAATGTAATAAATGTACAACAAGTCAAATACTATAAGGAAAAATGAAGTACAGCAGGAGATAGCCTGTCATGGGGAAAGGAAGCAGCACTACAGTGGTCCCCTCTTATCCACAGTTTCACTTTTTGTGGTTTCAGTTACACGCAGTCAATTAAGGTCTGAAAAAAATTACATGGAAAATTCCAGAAATAAACAATTCATGTATTTTAAATTGTAAGTAGCACGATGAAATCACTTGCCATGCCGCTCTGTCCCACCCGGGATGTAAATCATCCCTTTGTCCAGCATCTCCACGCTGTATATGCTCCCTGCCCCATAGTCACTTAGCAGCCATCTTGCTTATCAGATTGACTCGTTGAGGTATTGCAGAGCTGTGTTCAAGTAACCCTCATTTTAGTTAATAATGGCCCCAAAGTACAAGAGTAGTGATGTTGGCATATTGTTCTAATTGTTCTATTTTATTAGTAGTCATTATTAATCTCTTACTGTGCCTAATTTATAAACTTTATTGTAGGTATGTACGTATAGAAAAAACATCTGCTGGGAGTCTTGAAACATATCCCCTGCAGATAAAGAGGGACTACTGTGTTTCAGGCAAGGTAGTCAGGGATGACATTTGAACAGAGGCCTACAATGAGGTGAGGGAATGAATCCAGTGTTCCAGACAGAACAAACATTGGAGTGTTTGAGGAAACTGCAGCACCCTTTGTTGAACCTGCCCACCACTGACTTCCCTCCCCTACCTGAGGTTTTCTTCTTACTCTACTCCCCTGCCCAACTTTATTGCCTTGACCATGCTCTTATATCTCCAAGCCTTACTCCCCGGCCTCACTGCTCCCCCACCCCAACTGCTGTCCTCCTCCCTGCCAATCCACTGCCATGGCTCAGTCTGCTTCTCTTCCTTCTCCCCCAGGAGACTGAGGCATGCCCTGTGGCCCTCACTTCCAGACCTGCACCGGGTCCTAGGCCAGTACCTTAGGGACACTGCAGCCCTGAGCCCGGTGAGTGTGCTTCCCTCCCCTGTGCCCACCACCAACCCTGCCTGGTACTGGATCCTTGCCCCAACAATACAACTTGTTCAAGGTCCTTGCCCTACCAGTGTGCCATCCCCAGGCACTACCCCAGCACTACCCCAGCCCTTCTCCTTCCTGTACAGTCCAGCCCCTCCTCCCACAGGATCTGCTTTAATCCAGCGCCTCTCCTCATCTCTCCCAGCCCAAGGCCACAGTCTCAGATACCTGTGAAGAAGTGGAACCCAGCCTCCTTGAAATCCTCCCCAAGTCCTCAGAGAGGACTCCTTTGCCCCTGTGTTCCTCCCAGGCCCAGATGGACTACCGAAGATTGCAGCCTTCTTGCCTGGGGACCATGCCCCTGTCTGTGTGCCCACCCATGGCTGAGTCAGGGTCCTGCTGTACCACCCACATTGCCAACCATTCCTACCTACCACTAAGCTATTGGCAGCAGCCTTGAGGACAGGCTCCTCACTCCCAGTTCCCTGGACAGAGCTAAACTCTCGAGACTTCTCTGTGAACTTCCCTACCCTACCCCCACAACACAAGCACCCCAGACCTCACCTCCATCCCCCTCTGTCTGCCCTCACAATTAGGCTTCATTGCACTGATCTTACTCTACTGCTGCTGACATAAAACCAGGACCCTTTCTCCACAGGCAGGCTCATTTCACTAAGCTCCTCCTTTACTTTCTCTCTCCTCTTTGATGTCAAACGCCTTGAAAACAAGCCTCCACTTCCCCACACTTCCCATTTACTCTTGAGACTACTTCAATTAGTTCCCCTACTACACTTTGCTAGTGAAACTGCCCAGGCAAAGTGCACCTCAAATCTTCTAATTCCAAGATCCAATAGGATCTCGTTAATCATCAGTTCCTTTGATCTCGCTGTAAGATTTGTCAAGGCTGACTACTCACTTCTCCTTTAAATTCTTTCCTACCTTGGTCCTGCCTCTTTGAGTATATTAGTAGGTTTTTTTTATTTGTTTGAGACAGGGTCTCACTCTGTCACCCAGGCTGCAGTGCAATGGCGCGATCTCAGCTCACTGCAACCTCCACCTCCGGGTTCAAGCGATTCTTGTGCCTCGGCCTCCCTAGTAGCTGGGATTACAGGCGCACACCACCACACACAGCTAATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTAGACGGAGCCTTGCTCTGTTGCCAGACTGGAGTGCAGTGGCACGATCTCGGCTCACTGCAACCTCTGCCTCCCGGGTTCAAGCCATTCTGCCTCAGCCTCCCAAGTAGCTGGGAGTACAGGCGTCTGCCACCATGCCTAATTTTTTTCTATTTTTAGGAGAGACCGGTTTTCACCACGTTGGCCAGGATGGTCTCGATATCCTGATCTCGTGATCCGCCTGCCTCTGCCTCCCAAAGTGCTGGGATTACAGGTGTGACCCACTGCGCACAGCCCCAGCTAATTTTCATATTTTTAGTAGAGACAGGGTTTTGCCATGTTGCCCAGGCTGGTCTTGAACTCCTAACCTCGGGTGATCCACCCACCTTGGCCTCCCAAAGTGTTAGGATTACAGGCATGAGCCACTGCGCCCGGCTGAGTGTACTAGTAGTTAAGAGAATAAACTAGATCTAGAATCAGAGCTGGATTCAATTCCTGTCCTTCACATTTACTAGCTGTGCAACCTTGGGCACATAACTTAATGTCTTTGAGCCTTAGTTTTTTCATCTGTAAAACAGGGATAATAACAGCACCCCATAGAGTTGTGACGAGGATTGAGATAATCTAAGTAAAGCACAGTCCCTAGGACATAGTAAATGATTCATATATCCGAACTACTGTTATAATTATTCCTTCTTACTCTCCTCTTCTAGCATTTCTTCCAATTATTACAGTCCTTCAAGATTCCATTTCTTAACAGTCTCCAATCCCATCTATTCTCTGCCTTTACTATATGTTGACCATTCCAAAGTTCTTATCTCTAGCTCAGACATCTACTACAGCACTGTGATGCTTTATGCAACTAACTGTTTACATATCTGTCCCCTGCTACTAGATTGTGAGCTCCTTGAGGGAAAGGAACATGATTTATTTGTCCTTTTCCCCCAGCACCTAGAGTAGTGCTTGGTGCATGATAGTAGGCCTTCAATAAATTTTTTCTAAATGAATGAAATCTTTCTGGACAAGGTTACCTTAATCCCATGCCAGCTGTCCTCATCCTCTAAACCGTTCATAGGCAGCAGTAAATGTGCTCAGACAGTTCTGATTATGGACTCTCCTAACACATTCTAATTCTCAAACAAATGGTTTTGTTGTCATTGTTTTTTCTGGCTCCAAATATACCCACTGTATCAGTCAGGGTCTTGGAAGAAATAGATGACACACTCAAATTGGGTAATATGATGACAGTGTAATAAACGGCAAACAGTATTTACAAAGATGAGGGCAAGATTTGGGAAAACCATCAAGGAACAGTGCAAGTGCCTCTGAGGCTAACAACAACAAGGTGCTGGCACTAGCCC
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AGGTTCTGGCCGGGTGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGTGGGCAGATCACAAGGTCAGGAGATCAAGACCATCCTGGCTAACACAGTGAAACCCCATCTCTACTAAAAATACAAAAAAAATTAGCCAGGCATGGTGGTGGGCGCCTGTAGTCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATGGTGTGAACCTGAGAGGCGGAGCTTGCAGTGAGCCAAGACCGCGCCACTGCACTCCAGCCTGGGCCACAGAGGGAGACTCCATCTCAAAAACAAAACAAAACAAAACAAAACAAAACAAAACAAAACAACAAAAAAATGGAGGCCCCTCCAATACATCTTAATCCATATTCTTCCCAGATAGACTACCCTCTCCAGTAACTTACTAATAAGCTCCACTGATTTTCTTCATTCATTCATTCAGCTAATTTACTGAGCACCTACTATGGGTCAGACACTATTCTACACCCTAGAAATACAGGAGTGAATAAATAGACAAACTCTCTTTTCTCGGGGACCATATGTTCTAGTGGGGTGAGACAGACAAAAAGAAATATACATAACAATGTAATAAATGTACAACAAGTCAAATACTATAAGGAAAAATGAAGTACAGCAGGAGATAGCCTGTCATGGGGAAAGGAAGCAGCACTACAGTGGTCCCCTCTTATCCACAGTTTCACTTTTTGTGGTTTCAGTTACACGCAGTCAATTAAGGTCTGAAAAAAATTACATGGAAAATTCCAGAAATAAACAATTCATGTATTTTAAATTGTAAGTAGCACGATGAAATCACTTGCCATGCCGCTCTGTCCCACCCGGGATGTAAATCATCCCTTTGTCCAGCATCTCCACGCTGTATATGCTCCCTGCCCCATAGTCACTTAGCAGCCATCTTGCTTATCAGATTGACTCGTTGAGGTATTGCAGAGCTGTGTTCAAGTAACCCTCATTTTAGTTAATAATGGCCCCAAAGTACAAGAGTAGTGATGTTGGCATATTGTTCTAATTGTTCTATTTTATTAGTAGTCATTATTAATCTCTTACTGTGCCTAATTTATAAACTTTATTGTAGGTATGTACGTATAGAAAAAACATCTGCTGGGAGTCTTGAAACATATCCCCTGCAGATAAAGAGGGACTACTGTGTTTCAGGCAAGGTAGTCAGGGATGACATTTGAACAGAGGCCTACAATGAGGTGAGGGAATGAATCCAGTGTTCCAGACAGAACAAACATTGGAGTGTTTGAGGAAACTGCAGCACCCTTTGTTGAACCTGCCCACCACTGACTTCCCTCCCCTACCTGAGGTTTTCTTCTTACTCTACTCCCCTGCCCAACTTTATTGCCTTGACCATGCTCTTATATCTCCAAGCCTTACTCCCCGGCCTCACTGCTCCCCCACCCCAACTGCTGTCCTCCTCCCTGCCAATCCACTGCCATGGCTCAGTCTGCTTCTCTTCCTTCTCCCCCAGGAGACTGAGGCATGCCCTGTGGCCCTCACTTCCAGACCTGCACCGGGTCCTAGGCCAGTACCTTAGGGACACTGCAGCCCTGAGCCCGGTGAGTGTGCTTCCCTCCCCTGTGCCCACCACCAACCCTGCCTGGTACTGGATCCTTGCCCCAACAATACAACTTGTTCAAGGTCCTTGCCCTACCAGTGTGCCATCCCCAGGCACTACCCCAGCACTACCCCAGCCCTTCTCCTTCCTGTACAGTCCAGCCCCTCCTCCCACAGGATCTGCTTTAATCCAGCGCCTCTCCTCATCTCTCCCAGCCCAAGGCCACAGTCTCAGATACCTGTGAAGAAGTGGAACCCAGCCTCCTTGAAATCCTCCCCAAGTCCTCAGAGAGGACTCCTTTGCCCCTGTGTTCCTCCCAGGCCCAGATGGACTACCGAAGATTGCAGCCTTCTTGCCTGGGGACCATGCCCCTGTCTGTGTGCCCACCCATGGCTGAGTCAGGGTCCTGCTGTACCACCCACATTGCCAACCATTCCTACCTACCACTAAGCTATTGGCAGCAGCTTTGAGGACAGGCTCCTCACTCCCAGTTCCCTGGACAGAGCTAAACTCTCGAGACTTCTCTGTGAACTTCCCTACCCTACCCCCACAACACAAGCACCCCAGACCTCACCTCCATCCCCCTCTGTCTGCCCTCACAATTAGGCTTCATTGCACTGATCTTACTCTACTGCTGCTGACATAAAACCAGGACCCTTTCTCCACAGGCAGGCTCATTTCACTAAGCTCCTCCTTTACTTTCTCTCTCCTCTTTGATGTCAAACGCCTTGAAAACAAGCCTCCACTTCCCCACACTTCCCATTTACTCTTGAGACTACTTCAATTAGTTCCCCTACTACACTTTGCTAGTGAAACTGCCCAGGCAAAGTGCACCTCAAATCTTCTAATTCCAAGATCCAATAGGATCTCGTTAATCATCAGTTCCTTTGATCTCGCTGTAAGATTTGTCAAGGCTGACTACTCACTTCTCCTTTAAATTCTTTCCTACCTTGGTCCTGCCTCTTTGAGTATATTAGTAGGTTTTTTTTATTTGTTTGAGACAGGGTCTCACTCTGTCACCCAGGCTGCAGTGCAATGGCGCGATCTCAGCTCACTGCAACCTCCACCTCCGGGTTCAAGCGATTCTTGTGCCTCGGCCTCCCTAGTAGCTGGGATTACAGGCGCACACCACCACACACAGCTAATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTAGACGGAGCCTTGCTCTGTTGCCAGACTGGAGTGCAGTGGCACGATCTCGGCTCACTGCAACCTCTGCCTCCCGGGTTCAAGCCATTCTGCCTCAGCCTCCCAAGTAGCTGGGAGTACAGGCGTCTGCCACCATGCCTAATTTTTTTCTATTTTTAGGAGAGACCGGTTTTCACCACGTTGGCCAGGATGGTCTCGATATCCTGATCTCGTGATCCGCCTGCCTCTGCCTCCCAAAGTGCTGGGATTACAGGTGTGACCCACTGCGCACAGCCCCAGCTAATTTTCATATTTTTAGTAGAGACAGGGTTTTGCCATGTTGCCCAGGCTGGTCTTGAACTCCTAACCTCGGGTGATCCACCCACCTTGGCCTCCCAAAGTGTTAGGATTACAGGCATGAGCCACTGCGCCCGGCTGAGTGTACTAGTAGTTAAGAGAATAAACTAGATCTAGAATCAGAGCTGGATTCAATTCCTGTCCTTCACATTTACTAGCTGTGCAACCTTGGGCACATAACTTAATGTCTTTGAGCCTTAGTTTTTTCATCTGTAAAACAGGGATAATAACAGCACCCCATAGAGTTGTGACGAGGATTGAGATAATCTAAGTAAAGCACAGTCCCTAGGACATAGTAAATGATTCATATATCCGAACTACTGTTATAATTATTCCTTCTTACTCTCCTCTTCTAGCATTTCTTCCAATTATTACAGTCCTTCAAGATTCCATTTCTTAACAGTCTCCAATCCCATCTATTCTCTGCCTTTACTATATGTTGACCATTCCAAAGTTCTTATCTCTAGCTCAGACATCTACTACAGCACTGTGATGCTTTATGCAACTAACTGTTTACATATCTGTCCCCTGCTACTAGATTGTGAGCTCCTTGAGGGAAAGGAACATGATTTATTTGTCCTTTTCCCCCAGCACCTAGAGTAGTGCTTGGTGCATGATAGTAGGCCTTCAATAAATTTTTTCTAAATGAATGAAATCTTTCTGGACAAGGTTACCTTAATCCCATGCCAGCTGTCCTCATCCTCTAAACCGTTCATAGGCAGCAGTAAATGTGCTCAGACAGTTCTGATTATGGACTCTCCTAACACATTCTAATTCTCAAACAAATGGTTTTGTTGTCATTGTTTTTTCTGGCTCCAAATATACCCACTGTATCAGTCAGGGTCTTGGAAGAAATAGATGACACACTCAAATTGGGTAATATGATGACAGTGTAATAAACGGCAAACAGTATTTACAAAGATGAGGGCAAGATTTGGGAAAACCATCAAGGAACAGTGCAAGTGCCTCTGAGGCTAACAACAACAAGGTGCTGGCACTAGCCC
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Task1_train_814
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A change on Chromosome 1 affects gene CDC20 (cell division cycle 20). Identify whether the variant is neutral or disease-linked. Mention the disease if applicable.
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Pathogenic; Oocyte maturation defect 14
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GTGCCTCCTGTAGGGCAGTCTAAGCTTATCTTCCAGATAGGCAGGTTTGAATACCGATCCTTTTTCTTGACCTTAAGGAATTCATTCACCCTTTTCAACCTCATTTTCCCTGTTTGTAAAACAACAGCAAACGAGACAAACACACGTTACTTCCTTTCTAGCAGGGTTCCTACCCGGCGCCAAGCAAAAGTGGAATGTACCCTAAGTAGCTCTGGCCTTCTTCCTGCTCCCAAGCTTCCCAATTCCGTCCCCTGCCCCGCTGCCGCCCGCGGCTCTCCTTCCCCTTCTAGGAACGGCTCAAGCGCCTTGGGCACTCCATCGGGTTCTGCACCGAGTTCTGCATCATAAATACGACTCTCGTGTAGGATTTAAGTGTGAACTTCTGCAGGTTCTCGGACCCTGAAGCACCCGGGGCCAGACATTCCGAGCTCGCGGCGGTGGAAGGCACGCAAAAGGGCGAACCGAGACGACTCCAGGACGCTGAGGCAGCGCAGGCCCCACCCGGCCCCGCCCTGCCCCGCCCTGTCCCGGCCGGCTTTCCAGTACTAGTCCTCTGGCGCCGGCTCCCAGCCCCTCTCGTACCCTTCAAATCGCGCTCCGCCGCTAGACTCTCGTGATAGCTGAGACTTTCCCCGGAAGGCCCGCCCCCTTCGCCGGAGAGGCCAATGGGCTAGGGCAACGGTTGCGACGGTTGGATTTTGAAGGAGCCAATAGGCGCTCGGAGCGGAGAGTTTAAGAGGCGTAAGCCAGGCGTGTTAAAGCCGGTCGGAACTGCTCCGGAGGGCACGGTGAGAGGTGGTGGGGCTGAGCCGAGGTGGGGCCGTGGCCAGGGGGAGGGGGTGCTAGGCCGGAAGGGGCTGCAGCCGAGGGTGGCCCTGATTTTGTGGCCGGCCAGGAGCGAAGGGGTCCCTTTCTGTCCCCTGAGCACCGTCGCCTCCTTTCCTCCAGGGCTCCGTAGGCACCAACTGCAAGGACCCCTCCCCCTGCGGGCGCTCCCATGGCACAGTTCGCGTTCGAGAGTGACCTGCACTCGCTGCTTCAGCTGGATGCACCCATCCCCAATGCACCCCCTGCGCGCTGGCAGCGCAAAGCCAAGGAAGCCGCAGGCCCGGCCCCCTCACCCATGCGGGCCGCCAACCGATCCCACAGCGCCGGCAGGACTCCGGGCCGAACTCCTGGTCAGTGAGGTGCCAAAGGAACTGAGTGAGAGCAGCCTTCATACTTTCTCCCTGGGGAGCCTGGTCAGACTGTCTTCTCTTTCTCCGCCCCAGGCAAATCCAGTTCCAAGGTTCAGACCACTCCTAGCAAACCTGGCGGTGACCGCTATATCCCCCATCGCAGTGCTGCCCAGATGGAGGTGGCCAGCTTCCTCCTGAGCAAGGAGAACCAGCCTGAAAACAGCCAGACGCCCACCAAGAAGGTATGTGTCCCAGAGGGGCTTAAGGCACGGGACCTGACTGTTCTTTGGATAATACCATCTTGCTCCTTCACTACCCTTTATGCCAGGAACATCAGAAAGCCTGGGCTTTGAACCTGAACGGTTTTGATGTAGAGGAAGCCAAGATCCTTCGGCTCAGTGGAAAACCACAAAATGCGCCAGAGGGTAAGACCCGAAGTTCCTGGTTCCTGGAGGGAGGTGTCAGTTCATCTCCAGGGCTGAGCACAGATATCTGTCTCCTCTTCCTATCTAAGATTGAGGGCAAGGGAGGTGTTGATTTTCCCAGCGTCTAGACTCACTCCGTTGCCACAGGTTATCAGAACAGACTGAAAGTACTCTACAGCCAAAAGGCCACTCCTGGCTCCAGCCGGAAGACCTGCCGTTACATTCCTTCCCTGCCAGACCGTATCCTGGATGCGCCTGAAATCCGAAATGACTATTGTAAGTGCATCCTTATCCTCGCCTCATGCATGGAGAAAGAGGGCCTGGGACCACACAAACAAGGAAGCTCATGCTCTTCTCTCCACCTCTGACAGACCTGAACCTTGTGGATTGGAGTTCTGGGAATGTACTGGCCGTGGCACTGGACAACAGTGTGTACCTGTGGAGTGCAAGCTCTGGTGACATCCTGCAGCTTTTGCAAATGGAGCAGCCTGGGGAATATATATCCTCTGTGGCCTGGATCAAAGAGGGCAACTACTTGGCTGTGGGCACCAGCAGTGCTGAGGTGCAGGTGAGACGTGTCCAGTGCTGTCATTCTCACCAGTCCCAATGGGCTTGCACAGCTGGAGGATATTAATGCCAAGTCCCAATCTCTGATCCTAGTGGGCTTCTCTCTCTAGCTATGGGATGTGCAGCAGCAGAAACGGCTTCGAAATATGACCAGTCACTCTGCCCGAGTGGGCTCCCTAAGCTGGAACAGCTATATCCTGTCCAGGTCAGTGGTTTTTGTTGGTCTATGGTAGTCTGATATTTGCCCACCCTCCCCTTGACTGTACACCCCTGAACTGAACCAGCTCTGGCTTGCTTGCATTTGGTGCTGCCACAGAACCTGATTCCCTTCTTTCCTCCTCCAGTGGTTCACGTTCTGGCCACATCCACCACCATGATGTTCGGGTAGCAGAACACCATGTGGCCACACTGAGTGGCCACAGCCAGGAAGTGTGTGGGCTGCGCTGGGCCCCAGATGGACGACATTTGGCCAGTGGTGGTAATGATAACTTGGTCAATGTGTGGCCTAGTGCTCCTGGAGAGGGTGGCTGGGTTCCTCTGCAGACATTCACCCAGCATCAAGGGGCTGTCAAGGTGAGTAGGGTTGGGCTGAAGCCTCTGCAGACCCTCACCTATAATCTGGGGACTGTTAAGGGGAGAAGGGATGGTAGGATTGGACTGGGTTAATCTGTGACCCCTAGAGCTCCTTGTCTGGCTCTAGTACCTGCTGACCCCACCTTTATTCCATCTAGGCCGTAGCATGGTGTCCCTGGCAGTCCAATGTCCTGGCAACAGGAGGGGGCACCAGTGATCGACACATTCGCATCTGGAATGTGTGCTCTGGGGCCTGTCTGAGTGCCGTGGATGCCCATTCCCAGGTAATCTTTTGCCTGTTCCTGCCTCTCCCACATGCATTCTTACCGGGCAACTACATTCACTCCAATGGCTTCACCAACTCTATGCCCTGGTGATTCCCAAACTTCTAACTCAGCTCTCACTCATGAGCTTCATTTCCAACAGTCTGTGGCTATCTCCAATCCTATGTCCTATAGGCACCACCACCTTGATCTGTCCCAAATTAACCTTGTCACTTCCCCTTGCCTCCCTGAAATGTGTTCCTTCCTGTCTCACATTGCTTTGGAATGGCAGAACCTGCTCAGAAATCTGAGAAACCTCCTAGAATTTTTCATCCTCCTCACCAGGATCTATCAGTTTTACCTCAAAATATCATTGACATCTGTCCCCTCCCCTCAGCCTCATCCTTCCAAGTGGAGGCCCACTACAATGGCTTCCTCACTGGTGTCAAGCATTCTTTGTTATCTCCTGCAATGCATCCTCCATGCTGTGGTCTGTTATACTGTACTGTCCTTAAACCTGTGATGGCTTCCCATCACTTATGGCATATAATCCAAATCCATTAGAAAGATACTTGAGGCTCTCTCCTTCCACTCCCCCCACATTCAGCCTTCACTGTAGATATGGACTCTAGAGCCAGATGGCCCAAGTTAAAATTCTGGCTCTGTCATCTACTAAACTTGAATGTGACCTTTGGCAACCTATTGAACTTCCTTCTGATTGATTCCTCATCTATCCAATGGATAATACAGATGCTCCCTGATTTAAGTCCCAGTAAACCCACTGTAAAGGTAAAAAATGGTTACATCAGCGAGTGTCTATAATTTGCCTCTCAAGGAACTTTTGTATGGACTATGATCATTCAACTCTGAGTCTGGAGCATGTGGCAGGGTGCCTAACACTAGAATGGGCTCAGTTCTGATTTAAGTAGCCTTGGCTATATGTCATGCCCACACCAGCTCCTCTCCACAGGTGTGCTCCATCCTCTGGTCTCCCCATTACAAGGAGCTCATCTCAGGCCATGGCTTTGCACAGAACCAGCTAGTTATTTGGAAGTACCCAACCATGGCCAAGGTGGCTGAACTCAAAGGT
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GTGCCTCCTGTAGGGCAGTCTAAGCTTATCTTCCAGATAGGCAGGTTTGAATACCGATCCTTTTTCTTGACCTTAAGGAATTCATTCACCCTTTTCAACCTCATTTTCCCTGTTTGTAAAACAACAGCAAACGAGACAAACACACGTTACTTCCTTTCTAGCAGGGTTCCTACCCGGCGCCAAGCAAAAGTGGAATGTACCCTAAGTAGCTCTGGCCTTCTTCCTGCTCCCAAGCTTCCCAATTCCGTCCCCTGCCCCGCTGCCGCCCGCGGCTCTCCTTCCCCTTCTAGGAACGGCTCAAGCGCCTTGGGCACTCCATCGGGTTCTGCACCGAGTTCTGCATCATAAATACGACTCTCGTGTAGGATTTAAGTGTGAACTTCTGCAGGTTCTCGGACCCTGAAGCACCCGGGGCCAGACATTCCGAGCTCGCGGCGGTGGAAGGCACGCAAAAGGGCGAACCGAGACGACTCCAGGACGCTGAGGCAGCGCAGGCCCCACCCGGCCCCGCCCTGCCCCGCCCTGTCCCGGCCGGCTTTCCAGTACTAGTCCTCTGGCGCCGGCTCCCAGCCCCTCTCGTACCCTTCAAATCGCGCTCCGCCGCTAGACTCTCGTGATAGCTGAGACTTTCCCCGGAAGGCCCGCCCCCTTCGCCGGAGAGGCCAATGGGCTAGGGCAACGGTTGCGACGGTTGGATTTTGAAGGAGCCAATAGGCGCTCGGAGCGGAGAGTTTAAGAGGCGTAAGCCAGGCGTGTTAAAGCCGGTCGGAACTGCTCCGGAGGGCACGGTGAGAGGTGGTGGGGCTGAGCCGAGGTGGGGCCGTGGCCAGGGGGAGGGGGTGCTAGGCCGGAAGGGGCTGCAGCCGAGGGTGGCCCTGATTTTGTGGCCGGCCAGGAGCGAAGGGGTCCCTTTCTGTCCCCTGAGCACCGTCGCCTCCTTTCCTCCAGGGCTCCGTAGGCACCAACTGCAAGGACCCCTCCCCCTGCGGGCGCTCCCATGGCACAGTTCGCGTTCGAGAGTGACCTGCACTCGCTGCTTCAGCTGGATGCACCCATCCCCAATGCACCCCCTGCGCGCTGGCAGCGCAAAGCCAAGGAAGCCGCAGGCCCGGCCCCCTCACCCATGCGGGCCGCCAACCGATCCCACAGCGCCGGCAGGACTCCGGGCCGAACTCCTGGTCAGTGAGGTGCCAAAGGAACTGAGTGAGAGCAGCCTTCATACTTTCTCCCTGGGGAGCCTGGTCAGACTGTCTTCTCTTTCTCCGCCCCAGGCAAATCCAGTTCCAAGGTTCAGACCACTCCTAGCAAACCTGGCGGTGACCGCTATATCCCCCATCGCAGTGCTGCCCAGATGGAGGTGGCCAGCTTCCTCCTGAGCAAGGAGAACCAGCCTGAAAACAGCCAGACGCCCACCAAGAAGGTATGTGTCCCAGAGGGGCTTAAGGCACGGGACCTGACTGTTCTTTGGATAATACCATCTTGCTCCTTCACTACCCTTTATGCCAGGAACATCAGAAAGCCTGGGCTTTGAACCTGAACGGTTTTGATGTAGAGGAAGCCAAGATCCTTCGGCTCAGTGGAAAACCACAAAATGCGCCAGAGGGTAAGACCCGAAGTTCCTGGTTCCTGGAGGGAGGTGTCAGTTCATCTCCAGGGCTGAGCACAGATATCTGTCTCCTCTTCCTATCTAAGATTGAGGGCAAGGGAGGTGTTGATTTTCCCAGCGTCTAGACTCACTCCGTTGCCACAGGTTATCAGAACAGACTGAAAGTACTCTACAGCCAAAAGGCCACTCCTGGCTCCAGCCGGAAGACCTGCCGTTACATTCCTTCCCTGCCAGACCGTATCCTGGATGCGCCTGAAATCCGAAATGACTATTGTAAGTGCATCCTTATCCTCGCCTCATGCATGGAGAAAGAGGGCCTGGGACCACACAAACAAGGAAGCTCATGCTCTTCTCTCCACCTCTGACAGACCTGAACCTTGTGGATTGGAGTTCTGGGAATGTACTGGCCGTGGCACTGGACAACAGTGTGTACCTGTGGAGTACAAGCTCTGGTGACATCCTGCAGCTTTTGCAAATGGAGCAGCCTGGGGAATATATATCCTCTGTGGCCTGGATCAAAGAGGGCAACTACTTGGCTGTGGGCACCAGCAGTGCTGAGGTGCAGGTGAGACGTGTCCAGTGCTGTCATTCTCACCAGTCCCAATGGGCTTGCACAGCTGGAGGATATTAATGCCAAGTCCCAATCTCTGATCCTAGTGGGCTTCTCTCTCTAGCTATGGGATGTGCAGCAGCAGAAACGGCTTCGAAATATGACCAGTCACTCTGCCCGAGTGGGCTCCCTAAGCTGGAACAGCTATATCCTGTCCAGGTCAGTGGTTTTTGTTGGTCTATGGTAGTCTGATATTTGCCCACCCTCCCCTTGACTGTACACCCCTGAACTGAACCAGCTCTGGCTTGCTTGCATTTGGTGCTGCCACAGAACCTGATTCCCTTCTTTCCTCCTCCAGTGGTTCACGTTCTGGCCACATCCACCACCATGATGTTCGGGTAGCAGAACACCATGTGGCCACACTGAGTGGCCACAGCCAGGAAGTGTGTGGGCTGCGCTGGGCCCCAGATGGACGACATTTGGCCAGTGGTGGTAATGATAACTTGGTCAATGTGTGGCCTAGTGCTCCTGGAGAGGGTGGCTGGGTTCCTCTGCAGACATTCACCCAGCATCAAGGGGCTGTCAAGGTGAGTAGGGTTGGGCTGAAGCCTCTGCAGACCCTCACCTATAATCTGGGGACTGTTAAGGGGAGAAGGGATGGTAGGATTGGACTGGGTTAATCTGTGACCCCTAGAGCTCCTTGTCTGGCTCTAGTACCTGCTGACCCCACCTTTATTCCATCTAGGCCGTAGCATGGTGTCCCTGGCAGTCCAATGTCCTGGCAACAGGAGGGGGCACCAGTGATCGACACATTCGCATCTGGAATGTGTGCTCTGGGGCCTGTCTGAGTGCCGTGGATGCCCATTCCCAGGTAATCTTTTGCCTGTTCCTGCCTCTCCCACATGCATTCTTACCGGGCAACTACATTCACTCCAATGGCTTCACCAACTCTATGCCCTGGTGATTCCCAAACTTCTAACTCAGCTCTCACTCATGAGCTTCATTTCCAACAGTCTGTGGCTATCTCCAATCCTATGTCCTATAGGCACCACCACCTTGATCTGTCCCAAATTAACCTTGTCACTTCCCCTTGCCTCCCTGAAATGTGTTCCTTCCTGTCTCACATTGCTTTGGAATGGCAGAACCTGCTCAGAAATCTGAGAAACCTCCTAGAATTTTTCATCCTCCTCACCAGGATCTATCAGTTTTACCTCAAAATATCATTGACATCTGTCCCCTCCCCTCAGCCTCATCCTTCCAAGTGGAGGCCCACTACAATGGCTTCCTCACTGGTGTCAAGCATTCTTTGTTATCTCCTGCAATGCATCCTCCATGCTGTGGTCTGTTATACTGTACTGTCCTTAAACCTGTGATGGCTTCCCATCACTTATGGCATATAATCCAAATCCATTAGAAAGATACTTGAGGCTCTCTCCTTCCACTCCCCCCACATTCAGCCTTCACTGTAGATATGGACTCTAGAGCCAGATGGCCCAAGTTAAAATTCTGGCTCTGTCATCTACTAAACTTGAATGTGACCTTTGGCAACCTATTGAACTTCCTTCTGATTGATTCCTCATCTATCCAATGGATAATACAGATGCTCCCTGATTTAAGTCCCAGTAAACCCACTGTAAAGGTAAAAAATGGTTACATCAGCGAGTGTCTATAATTTGCCTCTCAAGGAACTTTTGTATGGACTATGATCATTCAACTCTGAGTCTGGAGCATGTGGCAGGGTGCCTAACACTAGAATGGGCTCAGTTCTGATTTAAGTAGCCTTGGCTATATGTCATGCCCACACCAGCTCCTCTCCACAGGTGTGCTCCATCCTCTGGTCTCCCCATTACAAGGAGCTCATCTCAGGCCATGGCTTTGCACAGAACCAGCTAGTTATTTGGAAGTACCCAACCATGGCCAAGGTGGCTGAACTCAAAGGT
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Task1_train_815
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Gene CDC20 (cell division cycle 20) on Chromosome 1 is impacted by this variant. Evaluate whether it is clinically benign or pathogenic and name the disorder if relevant.
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Pathogenic; Oocyte maturation defect 14
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ACCGATCCTTTTTCTTGACCTTAAGGAATTCATTCACCCTTTTCAACCTCATTTTCCCTGTTTGTAAAACAACAGCAAACGAGACAAACACACGTTACTTCCTTTCTAGCAGGGTTCCTACCCGGCGCCAAGCAAAAGTGGAATGTACCCTAAGTAGCTCTGGCCTTCTTCCTGCTCCCAAGCTTCCCAATTCCGTCCCCTGCCCCGCTGCCGCCCGCGGCTCTCCTTCCCCTTCTAGGAACGGCTCAAGCGCCTTGGGCACTCCATCGGGTTCTGCACCGAGTTCTGCATCATAAATACGACTCTCGTGTAGGATTTAAGTGTGAACTTCTGCAGGTTCTCGGACCCTGAAGCACCCGGGGCCAGACATTCCGAGCTCGCGGCGGTGGAAGGCACGCAAAAGGGCGAACCGAGACGACTCCAGGACGCTGAGGCAGCGCAGGCCCCACCCGGCCCCGCCCTGCCCCGCCCTGTCCCGGCCGGCTTTCCAGTACTAGTCCTCTGGCGCCGGCTCCCAGCCCCTCTCGTACCCTTCAAATCGCGCTCCGCCGCTAGACTCTCGTGATAGCTGAGACTTTCCCCGGAAGGCCCGCCCCCTTCGCCGGAGAGGCCAATGGGCTAGGGCAACGGTTGCGACGGTTGGATTTTGAAGGAGCCAATAGGCGCTCGGAGCGGAGAGTTTAAGAGGCGTAAGCCAGGCGTGTTAAAGCCGGTCGGAACTGCTCCGGAGGGCACGGTGAGAGGTGGTGGGGCTGAGCCGAGGTGGGGCCGTGGCCAGGGGGAGGGGGTGCTAGGCCGGAAGGGGCTGCAGCCGAGGGTGGCCCTGATTTTGTGGCCGGCCAGGAGCGAAGGGGTCCCTTTCTGTCCCCTGAGCACCGTCGCCTCCTTTCCTCCAGGGCTCCGTAGGCACCAACTGCAAGGACCCCTCCCCCTGCGGGCGCTCCCATGGCACAGTTCGCGTTCGAGAGTGACCTGCACTCGCTGCTTCAGCTGGATGCACCCATCCCCAATGCACCCCCTGCGCGCTGGCAGCGCAAAGCCAAGGAAGCCGCAGGCCCGGCCCCCTCACCCATGCGGGCCGCCAACCGATCCCACAGCGCCGGCAGGACTCCGGGCCGAACTCCTGGTCAGTGAGGTGCCAAAGGAACTGAGTGAGAGCAGCCTTCATACTTTCTCCCTGGGGAGCCTGGTCAGACTGTCTTCTCTTTCTCCGCCCCAGGCAAATCCAGTTCCAAGGTTCAGACCACTCCTAGCAAACCTGGCGGTGACCGCTATATCCCCCATCGCAGTGCTGCCCAGATGGAGGTGGCCAGCTTCCTCCTGAGCAAGGAGAACCAGCCTGAAAACAGCCAGACGCCCACCAAGAAGGTATGTGTCCCAGAGGGGCTTAAGGCACGGGACCTGACTGTTCTTTGGATAATACCATCTTGCTCCTTCACTACCCTTTATGCCAGGAACATCAGAAAGCCTGGGCTTTGAACCTGAACGGTTTTGATGTAGAGGAAGCCAAGATCCTTCGGCTCAGTGGAAAACCACAAAATGCGCCAGAGGGTAAGACCCGAAGTTCCTGGTTCCTGGAGGGAGGTGTCAGTTCATCTCCAGGGCTGAGCACAGATATCTGTCTCCTCTTCCTATCTAAGATTGAGGGCAAGGGAGGTGTTGATTTTCCCAGCGTCTAGACTCACTCCGTTGCCACAGGTTATCAGAACAGACTGAAAGTACTCTACAGCCAAAAGGCCACTCCTGGCTCCAGCCGGAAGACCTGCCGTTACATTCCTTCCCTGCCAGACCGTATCCTGGATGCGCCTGAAATCCGAAATGACTATTGTAAGTGCATCCTTATCCTCGCCTCATGCATGGAGAAAGAGGGCCTGGGACCACACAAACAAGGAAGCTCATGCTCTTCTCTCCACCTCTGACAGACCTGAACCTTGTGGATTGGAGTTCTGGGAATGTACTGGCCGTGGCACTGGACAACAGTGTGTACCTGTGGAGTGCAAGCTCTGGTGACATCCTGCAGCTTTTGCAAATGGAGCAGCCTGGGGAATATATATCCTCTGTGGCCTGGATCAAAGAGGGCAACTACTTGGCTGTGGGCACCAGCAGTGCTGAGGTGCAGGTGAGACGTGTCCAGTGCTGTCATTCTCACCAGTCCCAATGGGCTTGCACAGCTGGAGGATATTAATGCCAAGTCCCAATCTCTGATCCTAGTGGGCTTCTCTCTCTAGCTATGGGATGTGCAGCAGCAGAAACGGCTTCGAAATATGACCAGTCACTCTGCCCGAGTGGGCTCCCTAAGCTGGAACAGCTATATCCTGTCCAGGTCAGTGGTTTTTGTTGGTCTATGGTAGTCTGATATTTGCCCACCCTCCCCTTGACTGTACACCCCTGAACTGAACCAGCTCTGGCTTGCTTGCATTTGGTGCTGCCACAGAACCTGATTCCCTTCTTTCCTCCTCCAGTGGTTCACGTTCTGGCCACATCCACCACCATGATGTTCGGGTAGCAGAACACCATGTGGCCACACTGAGTGGCCACAGCCAGGAAGTGTGTGGGCTGCGCTGGGCCCCAGATGGACGACATTTGGCCAGTGGTGGTAATGATAACTTGGTCAATGTGTGGCCTAGTGCTCCTGGAGAGGGTGGCTGGGTTCCTCTGCAGACATTCACCCAGCATCAAGGGGCTGTCAAGGTGAGTAGGGTTGGGCTGAAGCCTCTGCAGACCCTCACCTATAATCTGGGGACTGTTAAGGGGAGAAGGGATGGTAGGATTGGACTGGGTTAATCTGTGACCCCTAGAGCTCCTTGTCTGGCTCTAGTACCTGCTGACCCCACCTTTATTCCATCTAGGCCGTAGCATGGTGTCCCTGGCAGTCCAATGTCCTGGCAACAGGAGGGGGCACCAGTGATCGACACATTCGCATCTGGAATGTGTGCTCTGGGGCCTGTCTGAGTGCCGTGGATGCCCATTCCCAGGTAATCTTTTGCCTGTTCCTGCCTCTCCCACATGCATTCTTACCGGGCAACTACATTCACTCCAATGGCTTCACCAACTCTATGCCCTGGTGATTCCCAAACTTCTAACTCAGCTCTCACTCATGAGCTTCATTTCCAACAGTCTGTGGCTATCTCCAATCCTATGTCCTATAGGCACCACCACCTTGATCTGTCCCAAATTAACCTTGTCACTTCCCCTTGCCTCCCTGAAATGTGTTCCTTCCTGTCTCACATTGCTTTGGAATGGCAGAACCTGCTCAGAAATCTGAGAAACCTCCTAGAATTTTTCATCCTCCTCACCAGGATCTATCAGTTTTACCTCAAAATATCATTGACATCTGTCCCCTCCCCTCAGCCTCATCCTTCCAAGTGGAGGCCCACTACAATGGCTTCCTCACTGGTGTCAAGCATTCTTTGTTATCTCCTGCAATGCATCCTCCATGCTGTGGTCTGTTATACTGTACTGTCCTTAAACCTGTGATGGCTTCCCATCACTTATGGCATATAATCCAAATCCATTAGAAAGATACTTGAGGCTCTCTCCTTCCACTCCCCCCACATTCAGCCTTCACTGTAGATATGGACTCTAGAGCCAGATGGCCCAAGTTAAAATTCTGGCTCTGTCATCTACTAAACTTGAATGTGACCTTTGGCAACCTATTGAACTTCCTTCTGATTGATTCCTCATCTATCCAATGGATAATACAGATGCTCCCTGATTTAAGTCCCAGTAAACCCACTGTAAAGGTAAAAAATGGTTACATCAGCGAGTGTCTATAATTTGCCTCTCAAGGAACTTTTGTATGGACTATGATCATTCAACTCTGAGTCTGGAGCATGTGGCAGGGTGCCTAACACTAGAATGGGCTCAGTTCTGATTTAAGTAGCCTTGGCTATATGTCATGCCCACACCAGCTCCTCTCCACAGGTGTGCTCCATCCTCTGGTCTCCCCATTACAAGGAGCTCATCTCAGGCCATGGCTTTGCACAGAACCAGCTAGTTATTTGGAAGTACCCAACCATGGCCAAGGTGGCTGAACTCAAAGGTAAGTGGCTAGGTGAAAAGCCGGACATAAAAGGCCACATAATGTATGACTGAA
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ACCGATCCTTTTTCTTGACCTTAAGGAATTCATTCACCCTTTTCAACCTCATTTTCCCTGTTTGTAAAACAACAGCAAACGAGACAAACACACGTTACTTCCTTTCTAGCAGGGTTCCTACCCGGCGCCAAGCAAAAGTGGAATGTACCCTAAGTAGCTCTGGCCTTCTTCCTGCTCCCAAGCTTCCCAATTCCGTCCCCTGCCCCGCTGCCGCCCGCGGCTCTCCTTCCCCTTCTAGGAACGGCTCAAGCGCCTTGGGCACTCCATCGGGTTCTGCACCGAGTTCTGCATCATAAATACGACTCTCGTGTAGGATTTAAGTGTGAACTTCTGCAGGTTCTCGGACCCTGAAGCACCCGGGGCCAGACATTCCGAGCTCGCGGCGGTGGAAGGCACGCAAAAGGGCGAACCGAGACGACTCCAGGACGCTGAGGCAGCGCAGGCCCCACCCGGCCCCGCCCTGCCCCGCCCTGTCCCGGCCGGCTTTCCAGTACTAGTCCTCTGGCGCCGGCTCCCAGCCCCTCTCGTACCCTTCAAATCGCGCTCCGCCGCTAGACTCTCGTGATAGCTGAGACTTTCCCCGGAAGGCCCGCCCCCTTCGCCGGAGAGGCCAATGGGCTAGGGCAACGGTTGCGACGGTTGGATTTTGAAGGAGCCAATAGGCGCTCGGAGCGGAGAGTTTAAGAGGCGTAAGCCAGGCGTGTTAAAGCCGGTCGGAACTGCTCCGGAGGGCACGGTGAGAGGTGGTGGGGCTGAGCCGAGGTGGGGCCGTGGCCAGGGGGAGGGGGTGCTAGGCCGGAAGGGGCTGCAGCCGAGGGTGGCCCTGATTTTGTGGCCGGCCAGGAGCGAAGGGGTCCCTTTCTGTCCCCTGAGCACCGTCGCCTCCTTTCCTCCAGGGCTCCGTAGGCACCAACTGCAAGGACCCCTCCCCCTGCGGGCGCTCCCATGGCACAGTTCGCGTTCGAGAGTGACCTGCACTCGCTGCTTCAGCTGGATGCACCCATCCCCAATGCACCCCCTGCGCGCTGGCAGCGCAAAGCCAAGGAAGCCGCAGGCCCGGCCCCCTCACCCATGCGGGCCGCCAACCGATCCCACAGCGCCGGCAGGACTCCGGGCCGAACTCCTGGTCAGTGAGGTGCCAAAGGAACTGAGTGAGAGCAGCCTTCATACTTTCTCCCTGGGGAGCCTGGTCAGACTGTCTTCTCTTTCTCCGCCCCAGGCAAATCCAGTTCCAAGGTTCAGACCACTCCTAGCAAACCTGGCGGTGACCGCTATATCCCCCATCGCAGTGCTGCCCAGATGGAGGTGGCCAGCTTCCTCCTGAGCAAGGAGAACCAGCCTGAAAACAGCCAGACGCCCACCAAGAAGGTATGTGTCCCAGAGGGGCTTAAGGCACGGGACCTGACTGTTCTTTGGATAATACCATCTTGCTCCTTCACTACCCTTTATGCCAGGAACATCAGAAAGCCTGGGCTTTGAACCTGAACGGTTTTGATGTAGAGGAAGCCAAGATCCTTCGGCTCAGTGGAAAACCACAAAATGCGCCAGAGGGTAAGACCCGAAGTTCCTGGTTCCTGGAGGGAGGTGTCAGTTCATCTCCAGGGCTGAGCACAGATATCTGTCTCCTCTTCCTATCTAAGATTGAGGGCAAGGGAGGTGTTGATTTTCCCAGCGTCTAGACTCACTCCGTTGCCACAGGTTATCAGAACAGACTGAAAGTACTCTACAGCCAAAAGGCCACTCCTGGCTCCAGCCGGAAGACCTGCCGTTACATTCCTTCCCTGCCAGACCGTATCCTGGATGCGCCTGAAATCCGAAATGACTATTGTAAGTGCATCCTTATCCTCGCCTCATGCATGGAGAAAGAGGGCCTGGGACCACACAAACAAGGAAGCTCATGCTCTTCTCTCCACCTCTGACAGACCTGAACCTTGTGGATTGGAGTTCTGGGAATGTACTGGCCGTGGCACTGGACAACAGTGTGTACCTGTGGAGTGCAAGCTCTGGTGACATCCTGCAGCTTTTGCAAATGGAGCAGCCTGGGGAATGTATATCCTCTGTGGCCTGGATCAAAGAGGGCAACTACTTGGCTGTGGGCACCAGCAGTGCTGAGGTGCAGGTGAGACGTGTCCAGTGCTGTCATTCTCACCAGTCCCAATGGGCTTGCACAGCTGGAGGATATTAATGCCAAGTCCCAATCTCTGATCCTAGTGGGCTTCTCTCTCTAGCTATGGGATGTGCAGCAGCAGAAACGGCTTCGAAATATGACCAGTCACTCTGCCCGAGTGGGCTCCCTAAGCTGGAACAGCTATATCCTGTCCAGGTCAGTGGTTTTTGTTGGTCTATGGTAGTCTGATATTTGCCCACCCTCCCCTTGACTGTACACCCCTGAACTGAACCAGCTCTGGCTTGCTTGCATTTGGTGCTGCCACAGAACCTGATTCCCTTCTTTCCTCCTCCAGTGGTTCACGTTCTGGCCACATCCACCACCATGATGTTCGGGTAGCAGAACACCATGTGGCCACACTGAGTGGCCACAGCCAGGAAGTGTGTGGGCTGCGCTGGGCCCCAGATGGACGACATTTGGCCAGTGGTGGTAATGATAACTTGGTCAATGTGTGGCCTAGTGCTCCTGGAGAGGGTGGCTGGGTTCCTCTGCAGACATTCACCCAGCATCAAGGGGCTGTCAAGGTGAGTAGGGTTGGGCTGAAGCCTCTGCAGACCCTCACCTATAATCTGGGGACTGTTAAGGGGAGAAGGGATGGTAGGATTGGACTGGGTTAATCTGTGACCCCTAGAGCTCCTTGTCTGGCTCTAGTACCTGCTGACCCCACCTTTATTCCATCTAGGCCGTAGCATGGTGTCCCTGGCAGTCCAATGTCCTGGCAACAGGAGGGGGCACCAGTGATCGACACATTCGCATCTGGAATGTGTGCTCTGGGGCCTGTCTGAGTGCCGTGGATGCCCATTCCCAGGTAATCTTTTGCCTGTTCCTGCCTCTCCCACATGCATTCTTACCGGGCAACTACATTCACTCCAATGGCTTCACCAACTCTATGCCCTGGTGATTCCCAAACTTCTAACTCAGCTCTCACTCATGAGCTTCATTTCCAACAGTCTGTGGCTATCTCCAATCCTATGTCCTATAGGCACCACCACCTTGATCTGTCCCAAATTAACCTTGTCACTTCCCCTTGCCTCCCTGAAATGTGTTCCTTCCTGTCTCACATTGCTTTGGAATGGCAGAACCTGCTCAGAAATCTGAGAAACCTCCTAGAATTTTTCATCCTCCTCACCAGGATCTATCAGTTTTACCTCAAAATATCATTGACATCTGTCCCCTCCCCTCAGCCTCATCCTTCCAAGTGGAGGCCCACTACAATGGCTTCCTCACTGGTGTCAAGCATTCTTTGTTATCTCCTGCAATGCATCCTCCATGCTGTGGTCTGTTATACTGTACTGTCCTTAAACCTGTGATGGCTTCCCATCACTTATGGCATATAATCCAAATCCATTAGAAAGATACTTGAGGCTCTCTCCTTCCACTCCCCCCACATTCAGCCTTCACTGTAGATATGGACTCTAGAGCCAGATGGCCCAAGTTAAAATTCTGGCTCTGTCATCTACTAAACTTGAATGTGACCTTTGGCAACCTATTGAACTTCCTTCTGATTGATTCCTCATCTATCCAATGGATAATACAGATGCTCCCTGATTTAAGTCCCAGTAAACCCACTGTAAAGGTAAAAAATGGTTACATCAGCGAGTGTCTATAATTTGCCTCTCAAGGAACTTTTGTATGGACTATGATCATTCAACTCTGAGTCTGGAGCATGTGGCAGGGTGCCTAACACTAGAATGGGCTCAGTTCTGATTTAAGTAGCCTTGGCTATATGTCATGCCCACACCAGCTCCTCTCCACAGGTGTGCTCCATCCTCTGGTCTCCCCATTACAAGGAGCTCATCTCAGGCCATGGCTTTGCACAGAACCAGCTAGTTATTTGGAAGTACCCAACCATGGCCAAGGTGGCTGAACTCAAAGGTAAGTGGCTAGGTGAAAAGCCGGACATAAAAGGCCACATAATGTATGACTGAA
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Task1_train_816
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The variant affects gene CDC20 (cell division cycle 20), which is on Chromosome 1. Please evaluate whether this mutation is benign or pathogenic and specify the disease if necessary.
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Pathogenic; Oocyte maturation defect 14
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CCTTCAAATCGCGCTCCGCCGCTAGACTCTCGTGATAGCTGAGACTTTCCCCGGAAGGCCCGCCCCCTTCGCCGGAGAGGCCAATGGGCTAGGGCAACGGTTGCGACGGTTGGATTTTGAAGGAGCCAATAGGCGCTCGGAGCGGAGAGTTTAAGAGGCGTAAGCCAGGCGTGTTAAAGCCGGTCGGAACTGCTCCGGAGGGCACGGTGAGAGGTGGTGGGGCTGAGCCGAGGTGGGGCCGTGGCCAGGGGGAGGGGGTGCTAGGCCGGAAGGGGCTGCAGCCGAGGGTGGCCCTGATTTTGTGGCCGGCCAGGAGCGAAGGGGTCCCTTTCTGTCCCCTGAGCACCGTCGCCTCCTTTCCTCCAGGGCTCCGTAGGCACCAACTGCAAGGACCCCTCCCCCTGCGGGCGCTCCCATGGCACAGTTCGCGTTCGAGAGTGACCTGCACTCGCTGCTTCAGCTGGATGCACCCATCCCCAATGCACCCCCTGCGCGCTGGCAGCGCAAAGCCAAGGAAGCCGCAGGCCCGGCCCCCTCACCCATGCGGGCCGCCAACCGATCCCACAGCGCCGGCAGGACTCCGGGCCGAACTCCTGGTCAGTGAGGTGCCAAAGGAACTGAGTGAGAGCAGCCTTCATACTTTCTCCCTGGGGAGCCTGGTCAGACTGTCTTCTCTTTCTCCGCCCCAGGCAAATCCAGTTCCAAGGTTCAGACCACTCCTAGCAAACCTGGCGGTGACCGCTATATCCCCCATCGCAGTGCTGCCCAGATGGAGGTGGCCAGCTTCCTCCTGAGCAAGGAGAACCAGCCTGAAAACAGCCAGACGCCCACCAAGAAGGTATGTGTCCCAGAGGGGCTTAAGGCACGGGACCTGACTGTTCTTTGGATAATACCATCTTGCTCCTTCACTACCCTTTATGCCAGGAACATCAGAAAGCCTGGGCTTTGAACCTGAACGGTTTTGATGTAGAGGAAGCCAAGATCCTTCGGCTCAGTGGAAAACCACAAAATGCGCCAGAGGGTAAGACCCGAAGTTCCTGGTTCCTGGAGGGAGGTGTCAGTTCATCTCCAGGGCTGAGCACAGATATCTGTCTCCTCTTCCTATCTAAGATTGAGGGCAAGGGAGGTGTTGATTTTCCCAGCGTCTAGACTCACTCCGTTGCCACAGGTTATCAGAACAGACTGAAAGTACTCTACAGCCAAAAGGCCACTCCTGGCTCCAGCCGGAAGACCTGCCGTTACATTCCTTCCCTGCCAGACCGTATCCTGGATGCGCCTGAAATCCGAAATGACTATTGTAAGTGCATCCTTATCCTCGCCTCATGCATGGAGAAAGAGGGCCTGGGACCACACAAACAAGGAAGCTCATGCTCTTCTCTCCACCTCTGACAGACCTGAACCTTGTGGATTGGAGTTCTGGGAATGTACTGGCCGTGGCACTGGACAACAGTGTGTACCTGTGGAGTGCAAGCTCTGGTGACATCCTGCAGCTTTTGCAAATGGAGCAGCCTGGGGAATATATATCCTCTGTGGCCTGGATCAAAGAGGGCAACTACTTGGCTGTGGGCACCAGCAGTGCTGAGGTGCAGGTGAGACGTGTCCAGTGCTGTCATTCTCACCAGTCCCAATGGGCTTGCACAGCTGGAGGATATTAATGCCAAGTCCCAATCTCTGATCCTAGTGGGCTTCTCTCTCTAGCTATGGGATGTGCAGCAGCAGAAACGGCTTCGAAATATGACCAGTCACTCTGCCCGAGTGGGCTCCCTAAGCTGGAACAGCTATATCCTGTCCAGGTCAGTGGTTTTTGTTGGTCTATGGTAGTCTGATATTTGCCCACCCTCCCCTTGACTGTACACCCCTGAACTGAACCAGCTCTGGCTTGCTTGCATTTGGTGCTGCCACAGAACCTGATTCCCTTCTTTCCTCCTCCAGTGGTTCACGTTCTGGCCACATCCACCACCATGATGTTCGGGTAGCAGAACACCATGTGGCCACACTGAGTGGCCACAGCCAGGAAGTGTGTGGGCTGCGCTGGGCCCCAGATGGACGACATTTGGCCAGTGGTGGTAATGATAACTTGGTCAATGTGTGGCCTAGTGCTCCTGGAGAGGGTGGCTGGGTTCCTCTGCAGACATTCACCCAGCATCAAGGGGCTGTCAAGGTGAGTAGGGTTGGGCTGAAGCCTCTGCAGACCCTCACCTATAATCTGGGGACTGTTAAGGGGAGAAGGGATGGTAGGATTGGACTGGGTTAATCTGTGACCCCTAGAGCTCCTTGTCTGGCTCTAGTACCTGCTGACCCCACCTTTATTCCATCTAGGCCGTAGCATGGTGTCCCTGGCAGTCCAATGTCCTGGCAACAGGAGGGGGCACCAGTGATCGACACATTCGCATCTGGAATGTGTGCTCTGGGGCCTGTCTGAGTGCCGTGGATGCCCATTCCCAGGTAATCTTTTGCCTGTTCCTGCCTCTCCCACATGCATTCTTACCGGGCAACTACATTCACTCCAATGGCTTCACCAACTCTATGCCCTGGTGATTCCCAAACTTCTAACTCAGCTCTCACTCATGAGCTTCATTTCCAACAGTCTGTGGCTATCTCCAATCCTATGTCCTATAGGCACCACCACCTTGATCTGTCCCAAATTAACCTTGTCACTTCCCCTTGCCTCCCTGAAATGTGTTCCTTCCTGTCTCACATTGCTTTGGAATGGCAGAACCTGCTCAGAAATCTGAGAAACCTCCTAGAATTTTTCATCCTCCTCACCAGGATCTATCAGTTTTACCTCAAAATATCATTGACATCTGTCCCCTCCCCTCAGCCTCATCCTTCCAAGTGGAGGCCCACTACAATGGCTTCCTCACTGGTGTCAAGCATTCTTTGTTATCTCCTGCAATGCATCCTCCATGCTGTGGTCTGTTATACTGTACTGTCCTTAAACCTGTGATGGCTTCCCATCACTTATGGCATATAATCCAAATCCATTAGAAAGATACTTGAGGCTCTCTCCTTCCACTCCCCCCACATTCAGCCTTCACTGTAGATATGGACTCTAGAGCCAGATGGCCCAAGTTAAAATTCTGGCTCTGTCATCTACTAAACTTGAATGTGACCTTTGGCAACCTATTGAACTTCCTTCTGATTGATTCCTCATCTATCCAATGGATAATACAGATGCTCCCTGATTTAAGTCCCAGTAAACCCACTGTAAAGGTAAAAAATGGTTACATCAGCGAGTGTCTATAATTTGCCTCTCAAGGAACTTTTGTATGGACTATGATCATTCAACTCTGAGTCTGGAGCATGTGGCAGGGTGCCTAACACTAGAATGGGCTCAGTTCTGATTTAAGTAGCCTTGGCTATATGTCATGCCCACACCAGCTCCTCTCCACAGGTGTGCTCCATCCTCTGGTCTCCCCATTACAAGGAGCTCATCTCAGGCCATGGCTTTGCACAGAACCAGCTAGTTATTTGGAAGTACCCAACCATGGCCAAGGTGGCTGAACTCAAAGGTAAGTGGCTAGGTGAAAAGCCGGACATAAAAGGCCACATAATGTATGACTGAAATGTCCAGAATAAGCAAATCCAGAGAAAAAACACATTAATGGTTGCCAGGGGCTGAGAGAGGGTAATGGGAAATGTTGAAAATGTCTTAGAATTAGTTTTAACAGTTGTACAATTTTGTGAATATACTAAAAATCACTAAACTGTACACTTTAAAAGGATGCATTTTATGGTGTGTGAATTATATCTCAGTAACACCATTGAAAAAAAAGGGAGGAGGCCAGGCACGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCTGAGGCGGGCAGATCATGAGGTCAGGAGATAGAGACAATCCTGGCTAACATGGTGAAGCCCTGTCTCTACTAAAAAACACAAAAAATTAGCCAGGCGTGGTGGCAAGCACCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAAAATGGCATGAACCCAGGAGGCGGAGCTTGCAGTGAGCCAAGATTGCGCCACTGCACTCCAGCCTGGGTGACAGAGCAAGTCTCAAAAAAAACAAAAAGGTAGGTGGGTGGCCCAGTGCCTC
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CCTTCAAATCGCGCTCCGCCGCTAGACTCTCGTGATAGCTGAGACTTTCCCCGGAAGGCCCGCCCCCTTCGCCGGAGAGGCCAATGGGCTAGGGCAACGGTTGCGACGGTTGGATTTTGAAGGAGCCAATAGGCGCTCGGAGCGGAGAGTTTAAGAGGCGTAAGCCAGGCGTGTTAAAGCCGGTCGGAACTGCTCCGGAGGGCACGGTGAGAGGTGGTGGGGCTGAGCCGAGGTGGGGCCGTGGCCAGGGGGAGGGGGTGCTAGGCCGGAAGGGGCTGCAGCCGAGGGTGGCCCTGATTTTGTGGCCGGCCAGGAGCGAAGGGGTCCCTTTCTGTCCCCTGAGCACCGTCGCCTCCTTTCCTCCAGGGCTCCGTAGGCACCAACTGCAAGGACCCCTCCCCCTGCGGGCGCTCCCATGGCACAGTTCGCGTTCGAGAGTGACCTGCACTCGCTGCTTCAGCTGGATGCACCCATCCCCAATGCACCCCCTGCGCGCTGGCAGCGCAAAGCCAAGGAAGCCGCAGGCCCGGCCCCCTCACCCATGCGGGCCGCCAACCGATCCCACAGCGCCGGCAGGACTCCGGGCCGAACTCCTGGTCAGTGAGGTGCCAAAGGAACTGAGTGAGAGCAGCCTTCATACTTTCTCCCTGGGGAGCCTGGTCAGACTGTCTTCTCTTTCTCCGCCCCAGGCAAATCCAGTTCCAAGGTTCAGACCACTCCTAGCAAACCTGGCGGTGACCGCTATATCCCCCATCGCAGTGCTGCCCAGATGGAGGTGGCCAGCTTCCTCCTGAGCAAGGAGAACCAGCCTGAAAACAGCCAGACGCCCACCAAGAAGGTATGTGTCCCAGAGGGGCTTAAGGCACGGGACCTGACTGTTCTTTGGATAATACCATCTTGCTCCTTCACTACCCTTTATGCCAGGAACATCAGAAAGCCTGGGCTTTGAACCTGAACGGTTTTGATGTAGAGGAAGCCAAGATCCTTCGGCTCAGTGGAAAACCACAAAATGCGCCAGAGGGTAAGACCCGAAGTTCCTGGTTCCTGGAGGGAGGTGTCAGTTCATCTCCAGGGCTGAGCACAGATATCTGTCTCCTCTTCCTATCTAAGATTGAGGGCAAGGGAGGTGTTGATTTTCCCAGCGTCTAGACTCACTCCGTTGCCACAGGTTATCAGAACAGACTGAAAGTACTCTACAGCCAAAAGGCCACTCCTGGCTCCAGCCGGAAGACCTGCCGTTACATTCCTTCCCTGCCAGACCGTATCCTGGATGCGCCTGAAATCCGAAATGACTATTGTAAGTGCATCCTTATCCTCGCCTCATGCATGGAGAAAGAGGGCCTGGGACCACACAAACAAGGAAGCTCATGCTCTTCTCTCCACCTCTGACAGACCTGAACCTTGTGGATTGGAGTTCTGGGAATGTACTGGCCGTGGCACTGGACAACAGTGTGTACCTGTGGAGTGCAAGCTCTGGTGACATCCTGCAGCTTTTGCAAATGGAGCAGCCTGGGGAATATATATCCTCTGTGGCCTGGATCAAAGAGGGCAACTACTTGGCTGTGGGCACCAGCAGTGCTGAGGTGCAGGTGAGACGTGTCCAGTGCTGTCATTCTCACCAGTCCCAATGGGCTTGCACAGCTGGAGGATATTAATGCCAAGTCCCAATCTCTGATCCTAGTGGGCTTCTCTCTCTAGCTATGGGATGTGCAGCAGCAGAAACGGCTTCGAAATATGACCAGTCACTCTGCCCGAGTGGGCTCCCTAAGCTGGAACAGCTATATCCTGTCCAGGTCAGTGGTTTTTGTTGGTCTATGGTAGTCTGATATTTGCCCACCCTCCCCTTGACTGTACACCCCTGAACTGAACCAGCTCTGGCTTGCTTGCATTTGGTGCTGCCACAGAACCTGATTCCCTTCTTTCCTCCTCCAGTGGTTCACGTTCTGGCCACATCCACCACCATGATGTTCGGGTAGCAGAACACCATGTGGCCACACTGAGTGGCCACAGCCAGGAAGTGTGTGGGCTGCGCTGGGCCCCAGATGGACAACATTTGGCCAGTGGTGGTAATGATAACTTGGTCAATGTGTGGCCTAGTGCTCCTGGAGAGGGTGGCTGGGTTCCTCTGCAGACATTCACCCAGCATCAAGGGGCTGTCAAGGTGAGTAGGGTTGGGCTGAAGCCTCTGCAGACCCTCACCTATAATCTGGGGACTGTTAAGGGGAGAAGGGATGGTAGGATTGGACTGGGTTAATCTGTGACCCCTAGAGCTCCTTGTCTGGCTCTAGTACCTGCTGACCCCACCTTTATTCCATCTAGGCCGTAGCATGGTGTCCCTGGCAGTCCAATGTCCTGGCAACAGGAGGGGGCACCAGTGATCGACACATTCGCATCTGGAATGTGTGCTCTGGGGCCTGTCTGAGTGCCGTGGATGCCCATTCCCAGGTAATCTTTTGCCTGTTCCTGCCTCTCCCACATGCATTCTTACCGGGCAACTACATTCACTCCAATGGCTTCACCAACTCTATGCCCTGGTGATTCCCAAACTTCTAACTCAGCTCTCACTCATGAGCTTCATTTCCAACAGTCTGTGGCTATCTCCAATCCTATGTCCTATAGGCACCACCACCTTGATCTGTCCCAAATTAACCTTGTCACTTCCCCTTGCCTCCCTGAAATGTGTTCCTTCCTGTCTCACATTGCTTTGGAATGGCAGAACCTGCTCAGAAATCTGAGAAACCTCCTAGAATTTTTCATCCTCCTCACCAGGATCTATCAGTTTTACCTCAAAATATCATTGACATCTGTCCCCTCCCCTCAGCCTCATCCTTCCAAGTGGAGGCCCACTACAATGGCTTCCTCACTGGTGTCAAGCATTCTTTGTTATCTCCTGCAATGCATCCTCCATGCTGTGGTCTGTTATACTGTACTGTCCTTAAACCTGTGATGGCTTCCCATCACTTATGGCATATAATCCAAATCCATTAGAAAGATACTTGAGGCTCTCTCCTTCCACTCCCCCCACATTCAGCCTTCACTGTAGATATGGACTCTAGAGCCAGATGGCCCAAGTTAAAATTCTGGCTCTGTCATCTACTAAACTTGAATGTGACCTTTGGCAACCTATTGAACTTCCTTCTGATTGATTCCTCATCTATCCAATGGATAATACAGATGCTCCCTGATTTAAGTCCCAGTAAACCCACTGTAAAGGTAAAAAATGGTTACATCAGCGAGTGTCTATAATTTGCCTCTCAAGGAACTTTTGTATGGACTATGATCATTCAACTCTGAGTCTGGAGCATGTGGCAGGGTGCCTAACACTAGAATGGGCTCAGTTCTGATTTAAGTAGCCTTGGCTATATGTCATGCCCACACCAGCTCCTCTCCACAGGTGTGCTCCATCCTCTGGTCTCCCCATTACAAGGAGCTCATCTCAGGCCATGGCTTTGCACAGAACCAGCTAGTTATTTGGAAGTACCCAACCATGGCCAAGGTGGCTGAACTCAAAGGTAAGTGGCTAGGTGAAAAGCCGGACATAAAAGGCCACATAATGTATGACTGAAATGTCCAGAATAAGCAAATCCAGAGAAAAAACACATTAATGGTTGCCAGGGGCTGAGAGAGGGTAATGGGAAATGTTGAAAATGTCTTAGAATTAGTTTTAACAGTTGTACAATTTTGTGAATATACTAAAAATCACTAAACTGTACACTTTAAAAGGATGCATTTTATGGTGTGTGAATTATATCTCAGTAACACCATTGAAAAAAAAGGGAGGAGGCCAGGCACGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCTGAGGCGGGCAGATCATGAGGTCAGGAGATAGAGACAATCCTGGCTAACATGGTGAAGCCCTGTCTCTACTAAAAAACACAAAAAATTAGCCAGGCGTGGTGGCAAGCACCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAAAATGGCATGAACCCAGGAGGCGGAGCTTGCAGTGAGCCAAGATTGCGCCACTGCACTCCAGCCTGGGTGACAGAGCAAGTCTCAAAAAAAACAAAAAGGTAGGTGGGTGGCCCAGTGCCTC
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Task1_train_817
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Gene CDC20 (cell division cycle 20) on Chromosome 1 is impacted by this variant. Evaluate whether it is clinically benign or pathogenic and name the disorder if relevant.
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Pathogenic; Oocyte maturation defect 14
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TCGCCTCCTTTCCTCCAGGGCTCCGTAGGCACCAACTGCAAGGACCCCTCCCCCTGCGGGCGCTCCCATGGCACAGTTCGCGTTCGAGAGTGACCTGCACTCGCTGCTTCAGCTGGATGCACCCATCCCCAATGCACCCCCTGCGCGCTGGCAGCGCAAAGCCAAGGAAGCCGCAGGCCCGGCCCCCTCACCCATGCGGGCCGCCAACCGATCCCACAGCGCCGGCAGGACTCCGGGCCGAACTCCTGGTCAGTGAGGTGCCAAAGGAACTGAGTGAGAGCAGCCTTCATACTTTCTCCCTGGGGAGCCTGGTCAGACTGTCTTCTCTTTCTCCGCCCCAGGCAAATCCAGTTCCAAGGTTCAGACCACTCCTAGCAAACCTGGCGGTGACCGCTATATCCCCCATCGCAGTGCTGCCCAGATGGAGGTGGCCAGCTTCCTCCTGAGCAAGGAGAACCAGCCTGAAAACAGCCAGACGCCCACCAAGAAGGTATGTGTCCCAGAGGGGCTTAAGGCACGGGACCTGACTGTTCTTTGGATAATACCATCTTGCTCCTTCACTACCCTTTATGCCAGGAACATCAGAAAGCCTGGGCTTTGAACCTGAACGGTTTTGATGTAGAGGAAGCCAAGATCCTTCGGCTCAGTGGAAAACCACAAAATGCGCCAGAGGGTAAGACCCGAAGTTCCTGGTTCCTGGAGGGAGGTGTCAGTTCATCTCCAGGGCTGAGCACAGATATCTGTCTCCTCTTCCTATCTAAGATTGAGGGCAAGGGAGGTGTTGATTTTCCCAGCGTCTAGACTCACTCCGTTGCCACAGGTTATCAGAACAGACTGAAAGTACTCTACAGCCAAAAGGCCACTCCTGGCTCCAGCCGGAAGACCTGCCGTTACATTCCTTCCCTGCCAGACCGTATCCTGGATGCGCCTGAAATCCGAAATGACTATTGTAAGTGCATCCTTATCCTCGCCTCATGCATGGAGAAAGAGGGCCTGGGACCACACAAACAAGGAAGCTCATGCTCTTCTCTCCACCTCTGACAGACCTGAACCTTGTGGATTGGAGTTCTGGGAATGTACTGGCCGTGGCACTGGACAACAGTGTGTACCTGTGGAGTGCAAGCTCTGGTGACATCCTGCAGCTTTTGCAAATGGAGCAGCCTGGGGAATATATATCCTCTGTGGCCTGGATCAAAGAGGGCAACTACTTGGCTGTGGGCACCAGCAGTGCTGAGGTGCAGGTGAGACGTGTCCAGTGCTGTCATTCTCACCAGTCCCAATGGGCTTGCACAGCTGGAGGATATTAATGCCAAGTCCCAATCTCTGATCCTAGTGGGCTTCTCTCTCTAGCTATGGGATGTGCAGCAGCAGAAACGGCTTCGAAATATGACCAGTCACTCTGCCCGAGTGGGCTCCCTAAGCTGGAACAGCTATATCCTGTCCAGGTCAGTGGTTTTTGTTGGTCTATGGTAGTCTGATATTTGCCCACCCTCCCCTTGACTGTACACCCCTGAACTGAACCAGCTCTGGCTTGCTTGCATTTGGTGCTGCCACAGAACCTGATTCCCTTCTTTCCTCCTCCAGTGGTTCACGTTCTGGCCACATCCACCACCATGATGTTCGGGTAGCAGAACACCATGTGGCCACACTGAGTGGCCACAGCCAGGAAGTGTGTGGGCTGCGCTGGGCCCCAGATGGACGACATTTGGCCAGTGGTGGTAATGATAACTTGGTCAATGTGTGGCCTAGTGCTCCTGGAGAGGGTGGCTGGGTTCCTCTGCAGACATTCACCCAGCATCAAGGGGCTGTCAAGGTGAGTAGGGTTGGGCTGAAGCCTCTGCAGACCCTCACCTATAATCTGGGGACTGTTAAGGGGAGAAGGGATGGTAGGATTGGACTGGGTTAATCTGTGACCCCTAGAGCTCCTTGTCTGGCTCTAGTACCTGCTGACCCCACCTTTATTCCATCTAGGCCGTAGCATGGTGTCCCTGGCAGTCCAATGTCCTGGCAACAGGAGGGGGCACCAGTGATCGACACATTCGCATCTGGAATGTGTGCTCTGGGGCCTGTCTGAGTGCCGTGGATGCCCATTCCCAGGTAATCTTTTGCCTGTTCCTGCCTCTCCCACATGCATTCTTACCGGGCAACTACATTCACTCCAATGGCTTCACCAACTCTATGCCCTGGTGATTCCCAAACTTCTAACTCAGCTCTCACTCATGAGCTTCATTTCCAACAGTCTGTGGCTATCTCCAATCCTATGTCCTATAGGCACCACCACCTTGATCTGTCCCAAATTAACCTTGTCACTTCCCCTTGCCTCCCTGAAATGTGTTCCTTCCTGTCTCACATTGCTTTGGAATGGCAGAACCTGCTCAGAAATCTGAGAAACCTCCTAGAATTTTTCATCCTCCTCACCAGGATCTATCAGTTTTACCTCAAAATATCATTGACATCTGTCCCCTCCCCTCAGCCTCATCCTTCCAAGTGGAGGCCCACTACAATGGCTTCCTCACTGGTGTCAAGCATTCTTTGTTATCTCCTGCAATGCATCCTCCATGCTGTGGTCTGTTATACTGTACTGTCCTTAAACCTGTGATGGCTTCCCATCACTTATGGCATATAATCCAAATCCATTAGAAAGATACTTGAGGCTCTCTCCTTCCACTCCCCCCACATTCAGCCTTCACTGTAGATATGGACTCTAGAGCCAGATGGCCCAAGTTAAAATTCTGGCTCTGTCATCTACTAAACTTGAATGTGACCTTTGGCAACCTATTGAACTTCCTTCTGATTGATTCCTCATCTATCCAATGGATAATACAGATGCTCCCTGATTTAAGTCCCAGTAAACCCACTGTAAAGGTAAAAAATGGTTACATCAGCGAGTGTCTATAATTTGCCTCTCAAGGAACTTTTGTATGGACTATGATCATTCAACTCTGAGTCTGGAGCATGTGGCAGGGTGCCTAACACTAGAATGGGCTCAGTTCTGATTTAAGTAGCCTTGGCTATATGTCATGCCCACACCAGCTCCTCTCCACAGGTGTGCTCCATCCTCTGGTCTCCCCATTACAAGGAGCTCATCTCAGGCCATGGCTTTGCACAGAACCAGCTAGTTATTTGGAAGTACCCAACCATGGCCAAGGTGGCTGAACTCAAAGGTAAGTGGCTAGGTGAAAAGCCGGACATAAAAGGCCACATAATGTATGACTGAAATGTCCAGAATAAGCAAATCCAGAGAAAAAACACATTAATGGTTGCCAGGGGCTGAGAGAGGGTAATGGGAAATGTTGAAAATGTCTTAGAATTAGTTTTAACAGTTGTACAATTTTGTGAATATACTAAAAATCACTAAACTGTACACTTTAAAAGGATGCATTTTATGGTGTGTGAATTATATCTCAGTAACACCATTGAAAAAAAAGGGAGGAGGCCAGGCACGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCTGAGGCGGGCAGATCATGAGGTCAGGAGATAGAGACAATCCTGGCTAACATGGTGAAGCCCTGTCTCTACTAAAAAACACAAAAAATTAGCCAGGCGTGGTGGCAAGCACCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAAAATGGCATGAACCCAGGAGGCGGAGCTTGCAGTGAGCCAAGATTGCGCCACTGCACTCCAGCCTGGGTGACAGAGCAAGTCTCAAAAAAAACAAAAAGGTAGGTGGGTGGCCCAGTGCCTCCTTTATGGCTATGGCTGCATCAGCATTCGTATGTACTGTTCTCATTTGCTCCAGGTCACACATCCCGGGTCCTGAGTCTGACCATGAGCCCAGATGGGGCCACAGTGGCATCCGCAGCAGCAGATGAGACCCTGAGGCTATGGCGCTGTTTTGAGTTGGACCCTGCGCGGCGGCGGGAGCGGGAGAAGGCCAGTGCAGCCAAAAGCAGCCTCATCCACCAAGGCATCCGCTGAAGACCAACCCATCACCTCAGTTGTTTTTTATTTTTCTAATAAAGTCATGTCTCCCTTCATGTTTTTTTTTTAAATCTGTTTCAGCTAATGCCTTTCTTCTTTCATGACCTATGTC
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TCGCCTCCTTTCCTCCAGGGCTCCGTAGGCACCAACTGCAAGGACCCCTCCCCCTGCGGGCGCTCCCATGGCACAGTTCGCGTTCGAGAGTGACCTGCACTCGCTGCTTCAGCTGGATGCACCCATCCCCAATGCACCCCCTGCGCGCTGGCAGCGCAAAGCCAAGGAAGCCGCAGGCCCGGCCCCCTCACCCATGCGGGCCGCCAACCGATCCCACAGCGCCGGCAGGACTCCGGGCCGAACTCCTGGTCAGTGAGGTGCCAAAGGAACTGAGTGAGAGCAGCCTTCATACTTTCTCCCTGGGGAGCCTGGTCAGACTGTCTTCTCTTTCTCCGCCCCAGGCAAATCCAGTTCCAAGGTTCAGACCACTCCTAGCAAACCTGGCGGTGACCGCTATATCCCCCATCGCAGTGCTGCCCAGATGGAGGTGGCCAGCTTCCTCCTGAGCAAGGAGAACCAGCCTGAAAACAGCCAGACGCCCACCAAGAAGGTATGTGTCCCAGAGGGGCTTAAGGCACGGGACCTGACTGTTCTTTGGATAATACCATCTTGCTCCTTCACTACCCTTTATGCCAGGAACATCAGAAAGCCTGGGCTTTGAACCTGAACGGTTTTGATGTAGAGGAAGCCAAGATCCTTCGGCTCAGTGGAAAACCACAAAATGCGCCAGAGGGTAAGACCCGAAGTTCCTGGTTCCTGGAGGGAGGTGTCAGTTCATCTCCAGGGCTGAGCACAGATATCTGTCTCCTCTTCCTATCTAAGATTGAGGGCAAGGGAGGTGTTGATTTTCCCAGCGTCTAGACTCACTCCGTTGCCACAGGTTATCAGAACAGACTGAAAGTACTCTACAGCCAAAAGGCCACTCCTGGCTCCAGCCGGAAGACCTGCCGTTACATTCCTTCCCTGCCAGACCGTATCCTGGATGCGCCTGAAATCCGAAATGACTATTGTAAGTGCATCCTTATCCTCGCCTCATGCATGGAGAAAGAGGGCCTGGGACCACACAAACAAGGAAGCTCATGCTCTTCTCTCCACCTCTGACAGACCTGAACCTTGTGGATTGGAGTTCTGGGAATGTACTGGCCGTGGCACTGGACAACAGTGTGTACCTGTGGAGTGCAAGCTCTGGTGACATCCTGCAGCTTTTGCAAATGGAGCAGCCTGGGGAATATATATCCTCTGTGGCCTGGATCAAAGAGGGCAACTACTTGGCTGTGGGCACCAGCAGTGCTGAGGTGCAGGTGAGACGTGTCCAGTGCTGTCATTCTCACCAGTCCCAATGGGCTTGCACAGCTGGAGGATATTAATGCCAAGTCCCAATCTCTGATCCTAGTGGGCTTCTCTCTCTAGCTATGGGATGTGCAGCAGCAGAAACGGCTTCGAAATATGACCAGTCACTCTGCCCGAGTGGGCTCCCTAAGCTGGAACAGCTATATCCTGTCCAGGTCAGTGGTTTTTGTTGGTCTATGGTAGTCTGATATTTGCCCACCCTCCCCTTGACTGTACACCCCTGAACTGAACCAGCTCTGGCTTGCTTGCATTTGGTGCTGCCACAGAACCTGATTCCCTTCTTTCCTCCTCCAGTGGTTCACGTTCTGGCCACATCCACCACCATGATGTTCGGGTAGCAGAACACCATGTGGCCACACTGAGTGGCCACAGCCAGGAAGTGTGTGGGCTGCGCTGGGCCCCAGATGGACGACATTTGGCCAGTGGTGGTAATGATAACTTGGTCAATGTGTGGCCTAGTGCTCCTGGAGAGGGTGGCTGGGTTCCTCTGCAGACATTCACCCAGCATCAAGGGGCTGTCAAGGTGAGTAGGGTTGGGCTGAAGCCTCTGCAGACCCTCACCTATAATCTGGGGACTGTTAAGGGGAGAAGGGATGGTAGGATTGGACTGGGTTAATCTGTGACCCCTAGAGCTCCTTGTCTGGCTCTAGTACCTGCTGACCCCACCTTTATTCCATCTAGGCCGTAGCATGGTGTCCCTGGCAGTCCAATGTCCTGGCAACAGGAGGGGGCACCAGTGATCGACACATTCGCATCTGCAATGTGTGCTCTGGGGCCTGTCTGAGTGCCGTGGATGCCCATTCCCAGGTAATCTTTTGCCTGTTCCTGCCTCTCCCACATGCATTCTTACCGGGCAACTACATTCACTCCAATGGCTTCACCAACTCTATGCCCTGGTGATTCCCAAACTTCTAACTCAGCTCTCACTCATGAGCTTCATTTCCAACAGTCTGTGGCTATCTCCAATCCTATGTCCTATAGGCACCACCACCTTGATCTGTCCCAAATTAACCTTGTCACTTCCCCTTGCCTCCCTGAAATGTGTTCCTTCCTGTCTCACATTGCTTTGGAATGGCAGAACCTGCTCAGAAATCTGAGAAACCTCCTAGAATTTTTCATCCTCCTCACCAGGATCTATCAGTTTTACCTCAAAATATCATTGACATCTGTCCCCTCCCCTCAGCCTCATCCTTCCAAGTGGAGGCCCACTACAATGGCTTCCTCACTGGTGTCAAGCATTCTTTGTTATCTCCTGCAATGCATCCTCCATGCTGTGGTCTGTTATACTGTACTGTCCTTAAACCTGTGATGGCTTCCCATCACTTATGGCATATAATCCAAATCCATTAGAAAGATACTTGAGGCTCTCTCCTTCCACTCCCCCCACATTCAGCCTTCACTGTAGATATGGACTCTAGAGCCAGATGGCCCAAGTTAAAATTCTGGCTCTGTCATCTACTAAACTTGAATGTGACCTTTGGCAACCTATTGAACTTCCTTCTGATTGATTCCTCATCTATCCAATGGATAATACAGATGCTCCCTGATTTAAGTCCCAGTAAACCCACTGTAAAGGTAAAAAATGGTTACATCAGCGAGTGTCTATAATTTGCCTCTCAAGGAACTTTTGTATGGACTATGATCATTCAACTCTGAGTCTGGAGCATGTGGCAGGGTGCCTAACACTAGAATGGGCTCAGTTCTGATTTAAGTAGCCTTGGCTATATGTCATGCCCACACCAGCTCCTCTCCACAGGTGTGCTCCATCCTCTGGTCTCCCCATTACAAGGAGCTCATCTCAGGCCATGGCTTTGCACAGAACCAGCTAGTTATTTGGAAGTACCCAACCATGGCCAAGGTGGCTGAACTCAAAGGTAAGTGGCTAGGTGAAAAGCCGGACATAAAAGGCCACATAATGTATGACTGAAATGTCCAGAATAAGCAAATCCAGAGAAAAAACACATTAATGGTTGCCAGGGGCTGAGAGAGGGTAATGGGAAATGTTGAAAATGTCTTAGAATTAGTTTTAACAGTTGTACAATTTTGTGAATATACTAAAAATCACTAAACTGTACACTTTAAAAGGATGCATTTTATGGTGTGTGAATTATATCTCAGTAACACCATTGAAAAAAAAGGGAGGAGGCCAGGCACGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCTGAGGCGGGCAGATCATGAGGTCAGGAGATAGAGACAATCCTGGCTAACATGGTGAAGCCCTGTCTCTACTAAAAAACACAAAAAATTAGCCAGGCGTGGTGGCAAGCACCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAAAATGGCATGAACCCAGGAGGCGGAGCTTGCAGTGAGCCAAGATTGCGCCACTGCACTCCAGCCTGGGTGACAGAGCAAGTCTCAAAAAAAACAAAAAGGTAGGTGGGTGGCCCAGTGCCTCCTTTATGGCTATGGCTGCATCAGCATTCGTATGTACTGTTCTCATTTGCTCCAGGTCACACATCCCGGGTCCTGAGTCTGACCATGAGCCCAGATGGGGCCACAGTGGCATCCGCAGCAGCAGATGAGACCCTGAGGCTATGGCGCTGTTTTGAGTTGGACCCTGCGCGGCGGCGGGAGCGGGAGAAGGCCAGTGCAGCCAAAAGCAGCCTCATCCACCAAGGCATCCGCTGAAGACCAACCCATCACCTCAGTTGTTTTTTATTTTTCTAATAAAGTCATGTCTCCCTTCATGTTTTTTTTTTAAATCTGTTTCAGCTAATGCCTTTCTTCTTTCATGACCTATGTC
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Task1_train_818
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Given a variant located on Chromosome 1 and affecting ELOVL1 (ELOVL fatty acid elongase 1), assess whether it is benign or pathogenic. Indicate the associated disease if pathogenic.
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Pathogenic; not provided
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CATTAATGGTTGCCAGGGGCTGAGAGAGGGTAATGGGAAATGTTGAAAATGTCTTAGAATTAGTTTTAACAGTTGTACAATTTTGTGAATATACTAAAAATCACTAAACTGTACACTTTAAAAGGATGCATTTTATGGTGTGTGAATTATATCTCAGTAACACCATTGAAAAAAAAGGGAGGAGGCCAGGCACGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCTGAGGCGGGCAGATCATGAGGTCAGGAGATAGAGACAATCCTGGCTAACATGGTGAAGCCCTGTCTCTACTAAAAAACACAAAAAATTAGCCAGGCGTGGTGGCAAGCACCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAAAATGGCATGAACCCAGGAGGCGGAGCTTGCAGTGAGCCAAGATTGCGCCACTGCACTCCAGCCTGGGTGACAGAGCAAGTCTCAAAAAAAACAAAAAGGTAGGTGGGTGGCCCAGTGCCTCCTTTATGGCTATGGCTGCATCAGCATTCGTATGTACTGTTCTCATTTGCTCCAGGTCACACATCCCGGGTCCTGAGTCTGACCATGAGCCCAGATGGGGCCACAGTGGCATCCGCAGCAGCAGATGAGACCCTGAGGCTATGGCGCTGTTTTGAGTTGGACCCTGCGCGGCGGCGGGAGCGGGAGAAGGCCAGTGCAGCCAAAAGCAGCCTCATCCACCAAGGCATCCGCTGAAGACCAACCCATCACCTCAGTTGTTTTTTATTTTTCTAATAAAGTCATGTCTCCCTTCATGTTTTTTTTTTAAATCTGTTTCAGCTAATGCCTTTCTTCTTTCATGACCTATGTCCCAGCAGCCTTCCTAGGGGCTCTACTCTACTGGGATCAGAGAGCTAGATATGTCCTGTGGGAGCCTGGACCATCCATCCCTCTTGTTTGTGGACAGGGCTAAGCGTGTTGTGTTCCCCCACCTCCTCTGTTCACATACGTATACACACAGCCTCCGTGGTTTCCTCTGTCACTTTTAATTAAGACACAAGTTGAGTAAGCAGCCTCCACAGGCTGTATTCCCAGGCCCCCGCCCACCCTGACCTTTGGCCCAGAAGCTACTGCTTCAGTGTGTGGGGTGGAGGAGTGAGACTGGGTCCACAGTGACATTATTGCTGACCTCTTCTGTGTGAGGAAAAAGGCCACGAGACCCTTTGTGGGGCCAGCCCTGAGTGCTCCTCTCCCAAGTTTTAAGGCAGGGAGGGGGAAATAACTGTACAGCCCTTTTAGCCCCCAGCTCTGGAGTGGCAGACAGCAATGAGGCCACATCCCTGGAGCTGCCCGGGGGAAGTGGGTGAGGAACCAAAGCCGTGGTCCCTGTAGAGCAGCTGTGGGGAGGGGAGGGCCAGTCCCCTGCTCAGTCCTGACCACATAAGCCTTGGTCACAGGTGTAGGTGGAGAGGGCACTGACGGACACTGCCCTAAGGTGCAGTCCTGAGGCACTTAGGTGGGCGCCTATCTAGGCCATGCTTCTCAGTTGGCCTTGACCTTGGCAATACCTGGAGCTCCATTTTGCTGAAGTGCACGGGGCAGCCGCTTGCCCTTGGTATAAGAGTGATACCAGAAGTTGGAGAACAGCATGAAGAAGATGGTGCCATACATCCAGATGAGGTGAATAATGACTGGGTACTGGTAGTTACAGCTGGACATAAAGTAGTACTGGGAGATGTGCAGTGAGACCAGGACAAACTGGATCTAGGATAGAGAAAGACCAGGGTCAGAGGGAATAGTGAGAGGACTAGAGGGGAAGAGGGGGTAGAGAAAGAGACAAACGTTGAGTAGGGAGAGATGGGGTCAAAGGTGAGACAGACTGGATAAAGGCAGGATCCAGGCTAGGAATGTGGGGGGATGGTTATAGGTAAGTCAGGCCAAGCCCCTCACCAGCTGAATGGCTGTCATGTGCTTTTTCCACCAAAGGTAGGGTTGTGCCACAGGGCCAAAGGCAGATAATCCGTAGTACAGGTACATTATGACATGCACGGAAGAGTTTATCATGGCATGGAAAGAGCCCATTCCTCCTGTGAGTGGACAATAAGACAGGGTCAGCAGAGTCCAGCCTCTGGTGCCCACCCTTTCCCATAGTGGCCTTCACCACTCACCCGGGGCAATCTTTACCCCCCACCACCAGCTCCAGGGAAGCACAGAGTGATGGAAGACATGTAGGAAGGTCACCTGCCCGTCTTTCTTTCGGAGAATAAAGATCACCTGAGAGAAGAGTGAGGGAAGGGGATTCAGAACCTGGGCTTCTCCACCTCATTCTCCCCTCAAGTTCTCACATCTCATATAACTACTCACTGTGTCCATCAGCTCAATGAACTTGGAGAAGAGGAAGAGCCAGGCCACCCGAACCATCTGCAAGAAGTTGGGATAGCCTTAGGACCTCATACACTATTCTAAGAGCCTCCCTAAACTGGGCCTTGAGCACAGGCCCCAAACTGGTCATATCTACCAGGTTGCTTATGACCTAGCCCCAGCCCCTACTTACCCTAAGTGCCTCAGGGCTGTTGGAATAGTCCACAGGGTCACAGCGCCAGGTATAGGTGCTCAGCCAGCCCGACATCAGGAACTGGGAAGGGATGTGGATTAGACCACCAGAGTTCTCCCTTCCCAGCCATCCCTCCCCTTCGCTAGCTGAGGACATGGATCTGAACCTCTCTGGAAAGGAGAAATGCCATGCTCTGGCTCTATGGCCTGCTCCTTATCCTGCTGACAGAAATTAAAGCCCGGCATCCCAGGGGCCCACCTCATAGACAATGTAGAGGGAGAGTGCCACCAGTGAGAAGTTGTAGACAATCATGAAGCCACGGAGCTGGAAGGGCTTCCGATTAGCCATGATGCGAGGCCCAAGTGAGAGAACGAAGTACACGTAGGTCAGGAGAATGGAGGTCATTAGCAAGGGGGACCCCATCAGAGGGTAGCCCTGGATCCGGGGATCTATGAATAAGGGTCAAAGGAATCAGGAAGAGTCACAGGGTTCGAAGGGTCTTCATTTGAAGGGTCTACAGACATGAGGTCAGGTCACAGGATCAAGGGTTTCATAGGAACTCTCCATTAGAAGACAGCCGTAGATCCAGGGATCCCGGGAAAGAAGGAAGGAAAGGGCTGGTGGATAGCGTCTTACCTGCGTGCTTCATCACCTCTTGGTACAAGTTCACAACAGCCTCCATCCTGGCTAAGGACTCTGGGGAGGTACAGAGGGCGGATGTCAGACAGATCCCACTGCACACCCCCATCCCACAGAGATAAGACACAGAACCAGACAAGACACCTGCAATGCCTCATTGCAGAAAGGACAGAACAGTGAAAGGAAGGAATTACTGGGAACTAGGGGGAGGAGGCAGTTTGGTTGAGGCATCTGCTCCCCACACATCCTGCTTGCCTGGGAAGAGCTGTTCCACCCTTCCTCTCCACACCTTACTCTCCTCTCCTCTCCACAGTTTTACTTCCTGGCCTCCCTTCCCCTCTTCCTCCACAAGATAACTCTCAATTCCAGGTCTCTTACTGGAGAATCTTACCTTCTCACCAACAGGGAGCTCTTGAACTCCGTCTCCCTTCCTCACCCGAGTCCCTCACCTCCCCAGCTCTGGGTCTTTCTTCTCTCCAGGGATTCTCCCCTTCAATCTCTCCTCTCCTGCCCTCTCCTCTTCCCATCCCTCTGGACCCTTCCTGAACTCTCTTCTCCCCAGGGTCCCTCCTGTCCCTGCCAGGACTCTCACCTCTCTGGGCCCTTCTGTCCCTCCAGAACCTTATCCTCGGATTCCTCCTTGCCTGTGCTGGGACACTTATGTCCCTACGATTCTCCTCTGCCTTTCCTGGGACTCTCACCTCCAGCCTCTCCTCTCCAGCGCTCTCCTCTCTCCTCTCGCAGAGCCCTTCCTCTCCTGGAGCCTGGCTCTTTGAGACTCCTGCCCCGGCGGCTCCACCTGTCTGACTAGATCTGGCAGCAGCCCCGCCCTCTGCCCGCCCCTGCTGTACTGTGCAGGGGGTGGAGGGTGGGTCCGGGCCACAGGTCAGTGCCTGGGGGAGCAGGACCCACCAGGATTGGGAAAGCCA
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CATTAATGGTTGCCAGGGGCTGAGAGAGGGTAATGGGAAATGTTGAAAATGTCTTAGAATTAGTTTTAACAGTTGTACAATTTTGTGAATATACTAAAAATCACTAAACTGTACACTTTAAAAGGATGCATTTTATGGTGTGTGAATTATATCTCAGTAACACCATTGAAAAAAAAGGGAGGAGGCCAGGCACGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCTGAGGCGGGCAGATCATGAGGTCAGGAGATAGAGACAATCCTGGCTAACATGGTGAAGCCCTGTCTCTACTAAAAAACACAAAAAATTAGCCAGGCGTGGTGGCAAGCACCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAAAATGGCATGAACCCAGGAGGCGGAGCTTGCAGTGAGCCAAGATTGCGCCACTGCACTCCAGCCTGGGTGACAGAGCAAGTCTCAAAAAAAACAAAAAGGTAGGTGGGTGGCCCAGTGCCTCCTTTATGGCTATGGCTGCATCAGCATTCGTATGTACTGTTCTCATTTGCTCCAGGTCACACATCCCGGGTCCTGAGTCTGACCATGAGCCCAGATGGGGCCACAGTGGCATCCGCAGCAGCAGATGAGACCCTGAGGCTATGGCGCTGTTTTGAGTTGGACCCTGCGCGGCGGCGGGAGCGGGAGAAGGCCAGTGCAGCCAAAAGCAGCCTCATCCACCAAGGCATCCGCTGAAGACCAACCCATCACCTCAGTTGTTTTTTATTTTTCTAATAAAGTCATGTCTCCCTTCATGTTTTTTTTTTAAATCTGTTTCAGCTAATGCCTTTCTTCTTTCATGACCTATGTCCCAGCAGCCTTCCTAGGGGCTCTACTCTACTGGGATCAGAGAGCTAGATATGTCCTGTGGGAGCCTGGACCATCCATCCCTCTTGTTTGTGGACAGGGCTAAGCGTGTTGTGTTCCCCCACCTCCTCTGTTCACATACGTATACACACAGCCTCCGTGGTTTCCTCTGTCACTTTTAATTAAGACACAAGTTGAGTAAGCAGCCTCCACAGGCTGTATTCCCAGGCCCCCGCCCACCCTGACCTTTGGCCCAGAAGCTACTGCTTCAGTGTGTGGGGTGGAGGAGTGAGACTGGGTCCACAGTGACATTATTGCTGACCTCTTCTGTGTGAGGAAAAAGGCCACGAGACCCTTTGTGGGGCCAGCCCTGAGTGCTCCTCTCCCAAGTTTTAAGGCAGGGAGGGGGAAATAACTGTACAGCCCTTTTAGCCCCCAGCTCTGGAGTGGCAGACAGCAATGAGGCCACATCCCTGGAGCTGCCCGGGGGAAGTGGGTGAGGAACCAAAGCCGTGGTCCCTGTAGAGCAGCTGTGGGGAGGGGAGGGCCAGTCCCCTGCTCAGTCCTGACCACATAAGCCTTGGTCACAGGTGTAGGTGGAGAGGGCACTGACGGACACTGCCCTAAGGTGCAGTCCTGAGGCACTTAGGTGGGCGCCTATCTAGGCCATGCTTCTCAGTTGGCCTTGACCTTGGCAATACCTGGAGCTCCATTTTGCTGAAGTGCACGGGGCAGCCGCTTGCCCTTGGTATAAGAGTGATACCAGAAGTTGGAGAACAGCATGAAGAAGATGGTGCCATACATCCAGATGAGGTGAATAATGACTGGGTACTGGTAGTTACAGCTGGACATAAAGTAGTACTGGGAGATGTGCAGTGAGACCAGGACAAACTGGATCTAGGATAGAGAAAGACCAGGGTCAGAGGGAATAGTGAGAGGACTAGAGGGGAAGAGGGGGTAGAGAAAGAGACAAACGTTGAGTAGGGAGAGATGGGGTCAAAGGTGAGACAGACTGGATAAAGGCAGGATCCAGGCTAGGAATGTGGGGGGATGGTTATAGGTAAGTCAGGCCAAGCCCCTCACCAGCTGAATGGCTGTCATGTGCTTTTTCCACCAAAGGTAGGGTTGTGCCACAGGGCCAAAGGCAGATAATCCGTAGTACAGGTACATTATGACATGCACGGAAGAGTTTATCATGGCATGGAAAAAGCCCATTCCTCCTGTGAGTGGACAATAAGACAGGGTCAGCAGAGTCCAGCCTCTGGTGCCCACCCTTTCCCATAGTGGCCTTCACCACTCACCCGGGGCAATCTTTACCCCCCACCACCAGCTCCAGGGAAGCACAGAGTGATGGAAGACATGTAGGAAGGTCACCTGCCCGTCTTTCTTTCGGAGAATAAAGATCACCTGAGAGAAGAGTGAGGGAAGGGGATTCAGAACCTGGGCTTCTCCACCTCATTCTCCCCTCAAGTTCTCACATCTCATATAACTACTCACTGTGTCCATCAGCTCAATGAACTTGGAGAAGAGGAAGAGCCAGGCCACCCGAACCATCTGCAAGAAGTTGGGATAGCCTTAGGACCTCATACACTATTCTAAGAGCCTCCCTAAACTGGGCCTTGAGCACAGGCCCCAAACTGGTCATATCTACCAGGTTGCTTATGACCTAGCCCCAGCCCCTACTTACCCTAAGTGCCTCAGGGCTGTTGGAATAGTCCACAGGGTCACAGCGCCAGGTATAGGTGCTCAGCCAGCCCGACATCAGGAACTGGGAAGGGATGTGGATTAGACCACCAGAGTTCTCCCTTCCCAGCCATCCCTCCCCTTCGCTAGCTGAGGACATGGATCTGAACCTCTCTGGAAAGGAGAAATGCCATGCTCTGGCTCTATGGCCTGCTCCTTATCCTGCTGACAGAAATTAAAGCCCGGCATCCCAGGGGCCCACCTCATAGACAATGTAGAGGGAGAGTGCCACCAGTGAGAAGTTGTAGACAATCATGAAGCCACGGAGCTGGAAGGGCTTCCGATTAGCCATGATGCGAGGCCCAAGTGAGAGAACGAAGTACACGTAGGTCAGGAGAATGGAGGTCATTAGCAAGGGGGACCCCATCAGAGGGTAGCCCTGGATCCGGGGATCTATGAATAAGGGTCAAAGGAATCAGGAAGAGTCACAGGGTTCGAAGGGTCTTCATTTGAAGGGTCTACAGACATGAGGTCAGGTCACAGGATCAAGGGTTTCATAGGAACTCTCCATTAGAAGACAGCCGTAGATCCAGGGATCCCGGGAAAGAAGGAAGGAAAGGGCTGGTGGATAGCGTCTTACCTGCGTGCTTCATCACCTCTTGGTACAAGTTCACAACAGCCTCCATCCTGGCTAAGGACTCTGGGGAGGTACAGAGGGCGGATGTCAGACAGATCCCACTGCACACCCCCATCCCACAGAGATAAGACACAGAACCAGACAAGACACCTGCAATGCCTCATTGCAGAAAGGACAGAACAGTGAAAGGAAGGAATTACTGGGAACTAGGGGGAGGAGGCAGTTTGGTTGAGGCATCTGCTCCCCACACATCCTGCTTGCCTGGGAAGAGCTGTTCCACCCTTCCTCTCCACACCTTACTCTCCTCTCCTCTCCACAGTTTTACTTCCTGGCCTCCCTTCCCCTCTTCCTCCACAAGATAACTCTCAATTCCAGGTCTCTTACTGGAGAATCTTACCTTCTCACCAACAGGGAGCTCTTGAACTCCGTCTCCCTTCCTCACCCGAGTCCCTCACCTCCCCAGCTCTGGGTCTTTCTTCTCTCCAGGGATTCTCCCCTTCAATCTCTCCTCTCCTGCCCTCTCCTCTTCCCATCCCTCTGGACCCTTCCTGAACTCTCTTCTCCCCAGGGTCCCTCCTGTCCCTGCCAGGACTCTCACCTCTCTGGGCCCTTCTGTCCCTCCAGAACCTTATCCTCGGATTCCTCCTTGCCTGTGCTGGGACACTTATGTCCCTACGATTCTCCTCTGCCTTTCCTGGGACTCTCACCTCCAGCCTCTCCTCTCCAGCGCTCTCCTCTCTCCTCTCGCAGAGCCCTTCCTCTCCTGGAGCCTGGCTCTTTGAGACTCCTGCCCCGGCGGCTCCACCTGTCTGACTAGATCTGGCAGCAGCCCCGCCCTCTGCCCGCCCCTGCTGTACTGTGCAGGGGGTGGAGGGTGGGTCCGGGCCACAGGTCAGTGCCTGGGGGAGCAGGACCCACCAGGATTGGGAAAGCCA
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Task1_train_819
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The following genetic variant occurs in SZT2 (SZT2 subunit of KICSTOR complex) on Chromosome 1. Classify its clinical effect — pathogenic or benign — and list any associated condition.
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Pathogenic; Self-limited epilepsy with centrotemporal spikes
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TGAACCGTTATGCCCAGCTGTTATTGTTAACTTTTACTCTTACCAGGCATTGTGCTGAGCACTTCATATGCATGATATTCCTTGATCCACAGAACAGCACTTTAGATTGGTATTAGAATTCTCTATTTTACAAAGGAGGACATTGAAGCTTAAAGAGGTGATACAACCTTTCCACTGTCTCACAGCTAATAAGTGGATGAATTGGGATTCAAACCCAGACTTTCTGAACCTGAAATTCTTGAACTTGGCCTCTACAGAGTACTTTTTTTTTCTTACTTTTTATTTTATTGTATTTTTTTGAGATGGAGTCTCACTCTGTCGCCCAGGATGGAGTGCAGTGGTGTGATCTCGGCTCACTGCAACCTCCGCCTCCTGGGTTCAAGCGATCTCCTGCCTCAGCCTCCCAAGTAGCTGGGATTACAGGTGCCTGCCACCACGCCTAGCTAATTTTTGTATTTTTAGTAGAGACGGGGTTTCACCATGTTGGCCAGGCTGGTCTCGAACTCCTGACCTCAGGTGATCCACCCGCCTCGGCCTCCTGAAGTGCTGGGATTACAGGCATGAGCCACTGCGCCCAGCCCTTTTTTTTTCTTTTACATAGTACTTTTGCATATATCTTAGATGCTCAATAAATGTGAGTTCCTCCTTCTTGCCTTCTGCTATCATCCTTATCACTTTCCAGTACCTCTTTCTGTATCTTTTTACCCCTTCCTTCTGTCTTGGAGCAGAAGAAAGACTACAACTTCACAGCCATTGTATCTGTTCTCCACACTTTTCTCTGACATCAGAAACTCTTCATTATTGGTTTTCCAGGGCTTTTTCAGTCTTCTCTCCATGCATGTTTCCCCATTTTGGAAAAAATAATTCTTCACTTTCTTTCAACATCATGTTTCTCAACAGGTAGTTATTAACTTCTGTTCGTTTCTCCTCTACTACCTGCTCTTCAGTTCTTGCCACCTGGTGTTCTTTCCCTCATTAATCAGGGACACAGGAGGAGAAATTTGCCATTTGTGTAGGACAGACAAGAGAAAGGGAGTAATGAATGTGACAGATAAGCATTAATCAGGAAGAGACATTGGGGAGTTCAGACCAATTGACCTTTATTTCCTCAGTGAACTGTGGGCAAGTTTATCTGCTGGGAGGGGATTGAGAGATTGGAAAACCTCCTGTGGGGAACAGGAAAGGCTGCTGGCCAGGAGAATTCAGAGGACTGGTAAAGGCCTGCTAGAGTGGGCACTGCTGGCAAGGTGACAAGTTTCTTTCTGTCCAAGTGCAGCTGCCATAGTATATGTGTGGATAAGGGAAAATGTCAGATTCATCCCCAGATAAGATTTGACAGGACATGTGTAGTGGAAGGACAAGGACATGGGCAAGGGAACCGATGCTTGTTAGAGCATTGTTGAAGTGGCCACCTATGAGGCAATGGAGGCAAGAACTAGAGGGCTGACAACTGAGAAGTGCGGGGGTGGGGACTGTGACCCACAGAGGTTTGATTTTGAGGTATTTGGAAGGCTTGCTATTCCTTCGGTGAAAATTTCTTCGGTGCCTGCTGTTGTCAAGACTTGTTAGGAGTAACTGTCTGGCATTCGTGTAATGTATTAGGGACTTGTCCTGGTATTTGCTCTGTTTGTAGCAATTTGCCAAGCACAGGGGCACAAAAGTAGAATCAGACACAGCCCCTGCCCTCAAAAGCTTATAGTTTATAGGTGAAACTCACATAAACTTTGTGGAAACAATATGGAAAGGTCACTTCATCTATATGGAGGTCTGTATCGGGCAAACAGGAACAGAGAGTTGAGAATTGACTCCCTGGGAACACCTTGCATGGAGGTTGGGGTAAACTTTTCACTTCTGCTGTTTTCCCTCTCATTGATGGTGAGTTCCTTGGGCAAATTATTTGGACAGTGATCTGTGTGTTCCAGGTACTCGGTGCCATTTTTTAAAGATGTATTAATGTCTCTTTGTTCCCAGGTGGAAGAAGCTGGGCAGGTGTTCCTGTTAATGAAAAAGGATTATCGAATCTCCCGAAATGTTCGCCTGGCTTGGTTCCTCAGTCATCTGCACCAAACTGTGCAGGCCACACCCCAGGAGATGCTGGTGAGGCTTAGACACACGAAAGGTGTGAGGGGCCAGCCCAGAAGGATCTGTTTTTTAGGAGAGTGCTAGAAACAGACAGGGTGGGAGACTAACTCTTAAGTCTGGTTAGGGCAAGGGACTGCCTACAAGATGATGGAAATTTTAAAAAATAATTTTTCCAGAGAGTGAGAGGAAGAGTATACGGTTAGATTGAGGGAGGTAGAGCCAATGATGTGTCATTTGGGATATAGAAGGCAGGTCCTGGGAAGAAAGGGATACTTCGCTGATCCTTTCCTTTTCTTTCCATCCTAATTTTCAGCTTCAGTCTGAACAGGAATTGGAAGTCCTCAGTGTCCTGCCCCCTGGGTGGCAGCCAGATGAACCAGTGGTCCCAAGGCCATTCCTCCTGGTACCTTCCACCCGGGTCACCTTCCTGGCTTGGCAGTATCGGTTTGTCATTGAGTTGGACCTTAGCCCATCTACTGGCATTGTGGTAAAGGATTGAAGGGAGACTGTGGGAAGAAAGGATGGGGTGGGGTGTGAGGAGAGGGAGAGGCCTGTGGGGAAGTGAAAAATGGTCCCAGCCTACCATTTTGGAGAGAAGACAGGCTTATAAAGGAATGATGGGTGTTTAAAAAGAGCACTGGGCCAGCTGTGGTGACTCATGCCTACAATCCCAGTGCTTTGGGAAGCCAAGGCGGGCTGATTACTCGAGCTCAGGAGTTCGAGACTAGCCTGGGCCACATGGCAAAACTCCCTCTCTATAAAAAATACAAAAATTAGCCAGGCATGCTGGCATGCACCTGTCCTAGCTACTCGGGAGGCTGAGGTGGGAGGATTGCTTGAGCCCAGGAGGTCGAGGCTACAGTGAGCCGGGATCAGGCCACTGCGCTCTAGCGTGGGCAACAAAGCAAGACCCTGGTTTTGTTGTTTTTGTTTCCAAAAAACACCCCAGAAACTGTTCCATGTGTGGCACTGTATTTGGGTGTGCGATCATCCATAAGTTAAGTGTCCTACTGACCCATGGAAGCTGCATGTTTCTGCCCTCTGGTTAGGGCTGCCTTTGGACCCCCTTGAGTGCTCTTTCTCTGCCCTCAGGATGATTCCACAGGGGAGATCTTGTTTGATGAAGTTTTCCATGCCCTGTCCCGCTGCTTAGGCGGGCTGCTTCGGCCCTTCCGAGTGCCTGGATCTTGCATCGACTTCCAGCCTGAGATCTATGTAACTATCCAGGCCTACTCCTCCATCATTGGACTGCAGTCCCACCAGGTATTGCATCATCTCTCCAAGTTTGTACCCTCAGACCAAATTTCTATTAGTCCTCTGACCAAGTCCTTATCCTGTCTCTGCTGTTTGTCCCCAAAGTCCCGAGCTCTGCTGGCTTCTTGAACCTGTTTTCTAGTCATCCTCATGAGTCTCTCTCTCCTTGAGAAGAACCAGTTCCTCTGGACTTAAAGGGCTTTCCTATAGACTTCGGGTCAGTTGGTGTTGATTGGACACCTGCCTTTTTCACTGCTCCTGTAAATCTCTTTGATTCTGACCACTGGATGTCTGTTTTCTCCATTCCCCTCTTCTCCTTTAGTTCTGTTGGATGGTTTGCTGATGCGCTGGCTCTGGCTAGTACCCTCAGGAGATGGTCTTTTGGAATAGTTTTGTGATTTTGAAAGACAGCACATAACCCAGAAATGTAATTGGTTTCAAGGATAGAGGAGGGTCATTTTTTGTTGTTGTCTTTTTTTGAGACGGAGTTTCGCTCTTTTTGCCCAGGCTGGAGTGCAATGGCACAATCTTGGCTCACTGCAACCTCCGCCTCCTGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCAAGTAACGGGGATGATAGGCACTCACCACCAGGCCCAGCTTATTTATTTATTTATTTATTTTTAGTAGAGACGGGGTTTTGCCATGTTGGCCAGGCTGGTCTTGAACTCCCGACCTCAGGTGATCTGCCAGCCTCGGCCTCCCAAAGTGCTAGGATTACAGGCGTGAGCCACC
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TGAACCGTTATGCCCAGCTGTTATTGTTAACTTTTACTCTTACCAGGCATTGTGCTGAGCACTTCATATGCATGATATTCCTTGATCCACAGAACAGCACTTTAGATTGGTATTAGAATTCTCTATTTTACAAAGGAGGACATTGAAGCTTAAAGAGGTGATACAACCTTTCCACTGTCTCACAGCTAATAAGTGGATGAATTGGGATTCAAACCCAGACTTTCTGAACCTGAAATTCTTGAACTTGGCCTCTACAGAGTACTTTTTTTTTCTTACTTTTTATTTTATTGTATTTTTTTGAGATGGAGTCTCACTCTGTCGCCCAGGATGGAGTGCAGTGGTGTGATCTCGGCTCACTGCAACCTCCGCCTCCTGGGTTCAAGCGATCTCCTGCCTCAGCCTCCCAAGTAGCTGGGATTACAGGTGCCTGCCACCACGCCTAGCTAATTTTTGTATTTTTAGTAGAGACGGGGTTTCACCATGTTGGCCAGGCTGGTCTCGAACTCCTGACCTCAGGTGATCCACCCGCCTCGGCCTCCTGAAGTGCTGGGATTACAGGCATGAGCCACTGCGCCCAGCCCTTTTTTTTTCTTTTACATAGTACTTTTGCATATATCTTAGATGCTCAATAAATGTGAGTTCCTCCTTCTTGCCTTCTGCTATCATCCTTATCACTTTCCAGTACCTCTTTCTGTATCTTTTTACCCCTTCCTTCTGTCTTGGAGCAGAAGAAAGACTACAACTTCACAGCCATTGTATCTGTTCTCCACACTTTTCTCTGACATCAGAAACTCTTCATTATTGGTTTTCCAGGGCTTTTTCAGTCTTCTCTCCATGCATGTTTCCCCATTTTGGAAAAAATAATTCTTCACTTTCTTTCAACATCATGTTTCTCAACAGGTAGTTATTAACTTCTGTTCGTTTCTCCTCTACTACCTGCTCTTCAGTTCTTGCCACCTGGTGTTCTTTCCCTCATTAATCAGGGACACAGGAGGAGAAATTTGCCATTTGTGTAGGACAGACAAGAGAAAGGGAGTAATGAATGTGACAGATAAGCATTAATCAGGAAGAGACATTGGGGAGTTCAGACCAATTGACCTTTATTTCCTCAGTGAACTGTGGGCAAGTTTATCTGCTGGGAGGGGATTGAGAGATTGGAAAACCTCCTGTGGGGAACAGGAAAGGCTGCTGGCCAGGAGAATTCAGAGGACTGGTAAAGGCCTGCTAGAGTGGGCACTGCTGGCAAGGTGACAAGTTTCTTTCTGTCCAAGTGCAGCTGCCATAGTATATGTGTGGATAAGGGAAAATGTCAGATTCATCCCCAGATAAGATTTGACAGGACATGTGTAGTGGAAGGACAAGGACATGGGCAAGGGAACCGATGCTTGTTAGAGCATTGTTGAAGTGGCCACCTATGAGGCAATGGAGGCAAGAACTAGAGGGCTGACAACTGAGAAGTGCGGGGGTGGGGACTGTGACCCACAGAGGTTTGATTTTGAGGTATTTGGAAGGCTTGCTATTCCTTCGGTGAAAATTTCTTCGGTGCCTGCTGTTGTCAAGACTTGTTAGGAGTAACTGTCTGGCATTCGTGTAATGTATTAGGGACTTGTCCTGGTATTTGCTCTGTTTGTAGCAATTTGCCAAGCACAGGGGCACAAAAGTAGAATCAGACACAGCCCCTGCCCTCAAAAGCTTATAGTTTATAGGTGAAACTCACATAAACTTTGTGGAAACAATATGGAAAGGTCACTTCATCTATATGGAGGTCTGTATCGGGCAAACAGGAACAGAGAGTTGAGAATTGACTCCCTGGGAACACCTTGCATGGAGGTTGGGGTAAACTTTTCACTTCTGCTGTTTTCCCTCTCATTGATGGTGAGTTCCTTGGGCAAATTATTTGGACAGTGATCTGTGTGTTCCAGGTACTCGGTGCCATTTTTTAAAGATGTATTAATGTCTCTTTGTTCCCAGGTGGAAGAAGCTGGGCAGGTGTTCCTGTTAATGAAAAAGGATTATCGAATCTCCCGAAATGTTCGCCTGGCTTGGTTGCTCAGTCATCTGCACCAAACTGTGCAGGCCACACCCCAGGAGATGCTGGTGAGGCTTAGACACACGAAAGGTGTGAGGGGCCAGCCCAGAAGGATCTGTTTTTTAGGAGAGTGCTAGAAACAGACAGGGTGGGAGACTAACTCTTAAGTCTGGTTAGGGCAAGGGACTGCCTACAAGATGATGGAAATTTTAAAAAATAATTTTTCCAGAGAGTGAGAGGAAGAGTATACGGTTAGATTGAGGGAGGTAGAGCCAATGATGTGTCATTTGGGATATAGAAGGCAGGTCCTGGGAAGAAAGGGATACTTCGCTGATCCTTTCCTTTTCTTTCCATCCTAATTTTCAGCTTCAGTCTGAACAGGAATTGGAAGTCCTCAGTGTCCTGCCCCCTGGGTGGCAGCCAGATGAACCAGTGGTCCCAAGGCCATTCCTCCTGGTACCTTCCACCCGGGTCACCTTCCTGGCTTGGCAGTATCGGTTTGTCATTGAGTTGGACCTTAGCCCATCTACTGGCATTGTGGTAAAGGATTGAAGGGAGACTGTGGGAAGAAAGGATGGGGTGGGGTGTGAGGAGAGGGAGAGGCCTGTGGGGAAGTGAAAAATGGTCCCAGCCTACCATTTTGGAGAGAAGACAGGCTTATAAAGGAATGATGGGTGTTTAAAAAGAGCACTGGGCCAGCTGTGGTGACTCATGCCTACAATCCCAGTGCTTTGGGAAGCCAAGGCGGGCTGATTACTCGAGCTCAGGAGTTCGAGACTAGCCTGGGCCACATGGCAAAACTCCCTCTCTATAAAAAATACAAAAATTAGCCAGGCATGCTGGCATGCACCTGTCCTAGCTACTCGGGAGGCTGAGGTGGGAGGATTGCTTGAGCCCAGGAGGTCGAGGCTACAGTGAGCCGGGATCAGGCCACTGCGCTCTAGCGTGGGCAACAAAGCAAGACCCTGGTTTTGTTGTTTTTGTTTCCAAAAAACACCCCAGAAACTGTTCCATGTGTGGCACTGTATTTGGGTGTGCGATCATCCATAAGTTAAGTGTCCTACTGACCCATGGAAGCTGCATGTTTCTGCCCTCTGGTTAGGGCTGCCTTTGGACCCCCTTGAGTGCTCTTTCTCTGCCCTCAGGATGATTCCACAGGGGAGATCTTGTTTGATGAAGTTTTCCATGCCCTGTCCCGCTGCTTAGGCGGGCTGCTTCGGCCCTTCCGAGTGCCTGGATCTTGCATCGACTTCCAGCCTGAGATCTATGTAACTATCCAGGCCTACTCCTCCATCATTGGACTGCAGTCCCACCAGGTATTGCATCATCTCTCCAAGTTTGTACCCTCAGACCAAATTTCTATTAGTCCTCTGACCAAGTCCTTATCCTGTCTCTGCTGTTTGTCCCCAAAGTCCCGAGCTCTGCTGGCTTCTTGAACCTGTTTTCTAGTCATCCTCATGAGTCTCTCTCTCCTTGAGAAGAACCAGTTCCTCTGGACTTAAAGGGCTTTCCTATAGACTTCGGGTCAGTTGGTGTTGATTGGACACCTGCCTTTTTCACTGCTCCTGTAAATCTCTTTGATTCTGACCACTGGATGTCTGTTTTCTCCATTCCCCTCTTCTCCTTTAGTTCTGTTGGATGGTTTGCTGATGCGCTGGCTCTGGCTAGTACCCTCAGGAGATGGTCTTTTGGAATAGTTTTGTGATTTTGAAAGACAGCACATAACCCAGAAATGTAATTGGTTTCAAGGATAGAGGAGGGTCATTTTTTGTTGTTGTCTTTTTTTGAGACGGAGTTTCGCTCTTTTTGCCCAGGCTGGAGTGCAATGGCACAATCTTGGCTCACTGCAACCTCCGCCTCCTGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCAAGTAACGGGGATGATAGGCACTCACCACCAGGCCCAGCTTATTTATTTATTTATTTATTTTTAGTAGAGACGGGGTTTTGCCATGTTGGCCAGGCTGGTCTTGAACTCCCGACCTCAGGTGATCTGCCAGCCTCGGCCTCCCAAAGTGCTAGGATTACAGGCGTGAGCCACC
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Task1_train_820
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The gene SZT2 (SZT2 subunit of KICSTOR complex) on Chromosome 1 carries this variant. Does this mutation lead to a specific disease, or is it non-pathogenic?
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Pathogenic; Developmental and epileptic encephalopathy, 18
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CCACATGAAGCCAAGAGCCAGCGTGTAGCCTATAGGCAGGTGAATGGAATAGAGTAAGTTACTGGAGATGAGAGTTAAGGAACTGAGAGGGCAGGGACTTGAATGAGTAATCTGGAGCAGGTCTGCAAACACTTTCTGCAAAGGCCAGTCAGTCTTTAAGCCTTGTGGGCCACTTGGTCCGTCACAGCTACTCAGCTCTGCTGTTGAAGCGTGAAAGCAGCCACAGACAATACAAAATGAATGTGTGTGGCTGTGTTCCAATAAAACTCGATTCACAAAAATAGGTGATGGACTAGATTTGGCCCTCAGGGTATATGTAGTTTGCTAATTTCCCACCTACAGCTATTGTATTCAAAATGTAGTCCACAGACCAGCAGAAAGCTTGTTTGAAATGCAGAATCTCAGGCCCCACCCCAGACCTACTGCATTTTAACAAAATCCCCAGGTGTTTTTCATACACCCTAAAGTTTGAGAAGTGTTGGTAAGCTGAAGTCTCTCAGGATGATGACAGGAAGTCAGTGAACCAGTTGCCAAAATCTTTAGTGAAGGAGGTGGTGGGCCTTTAGGTATCGAGGAGGAAGCAAAGAGGATGCTGTGGCCGGTTAGCATGGGCATCAGACAGAAGGGCTTAAGGAAGGAAAGACACAGACAGTGGTCTGTCCTGGGAAAACACTGGCCTACTTCCCACTCTGTGGTCCAGGGAATGGGAGCAGCCACCTAGCCCAGTCTCTTTCTCTCCTGTTCTTCCTTCTCCTATGCCTCTGTCAGAGCTAGGTCTTCAGTTGCTCACTTTTTCCAGGTGGGAGGAGTTTACTCTTATGACTGCAGTTTTGGCCATGTGCCCAATGTGGAATTAATGAAGTTCATCGCAATGGCAACATTTGGGTCCTACCTGTCCACTTGTCCTGAGCCGGAGCCAGGCAACCTGGGTCTGACTGTCTACCACCGGGCATTTCTCCTCTATTCCTTCCTGCGCAGTGGGGAAGCACTGAACCCTGAATATTACTGCGGTGAGAGGCACACTGAGGTGGGTGTGGGAAGGAGGGAATATAGAATGGGCCCAGAGATGATGGGGCCCTGGAGGACTGAAAGTGTAACTGGGGCTGGCTCTGCTGGCACTGTTACCTCACAGTCATTTCAGCATAGCCCCTTCCCCCTACAGATCTGTCAGTTGGCAGATAACCAGTTTCTCCTTCCCCATCTCCACTGGTCTTCCAGGCTCTCAGCACCGCCTATTTAATGAGCACCTGGTCTCTGCAAGCAGCAACCCTGCCCTGGCCTTGCGCCGGAAGAAGCACACTGAGAAGGAGGTGCCAGCCGACTTGGTCAGCACTGTGTCCGTACGGCTTCGAGAGGGCTACAGTGTCCGAGAGGTCACACTGGCCAAAGGTAAGGGTCATTAGGCCCTGCTGTAATCCCATAGATCTCTCAAGAATTTGTGTGTGGGAAGACCCACATGTATCACACATGAAAGAGTGTCACATTGAAGTCCTTATCACTTGAGACAGTGGGTTTTGAATTGTCATCAGGGCTTAATTCTCTTAGCATGGAGCTTCCCAATTCTATCTCCTTTTGCCCAAGGTGAACCAGCTGAGGGTGGTATAGGGTCCTGAACTTGGCTTAGTTTTCAGATTGTTTCTACAAACTTGTGTTTGTGTCAGTGGGCCAACTCTGGGCCTGAAACCTGTGGAACCATGCTTGGAACCTTTGGCAGGACTGGGTTCCATGAGGTAGGTGGGGGTTTCAGATAGAACTCGATCCCAGGCCTAGAGTCCTATGCCTTCTCCTAACTGGCCCTTCCGCTTCTCCCTAAGGAGGGTCCCAATTGGAGGTAAAGCTGGTGCTGCTGTGGAAACACAACATGCGCATTGAGTATGTGGCTATGGCACCCTGGCCCCTGGAGCCTGAGGGCCCTCGAGTAACACGGGTGGAAGTGACGATGGAAGGCGGCTACGACATTTTGCATGATGTGTCCTGTGCACTAAGGCAGCCCATTCGTTCATTGTATCGTACCCATGTTATCCGGCGTTTCTGGAACACGCTGCAGAGGTCAGTGAAGTCATCACTCAATGAGTGCTGCCCCATTTGTTGTATGGAGGGACAGATTTGCAAAGGCGGGAGCTGGGGAGCATCACCCAGAGAACCAGGCTTATATCCAGGGTCCCATGTCCCCCTAAGGCTCCCCTCATCTGCACCCAGCAGAGTCAGATATGGCTCAGGCCTGGCCCTTATTCTACAGCATCAACCAGACAGACCAGATGCTTGCCCACCTTCAGTCCTTCTCCTCAGTGCCTGAGCATTTCACGCTTCCTGACAGCACCAAGAGCGGAGTGCCACTCTTCTACATCCCTCCAGGCTCCACCACCCCGGTGAGTAGCTCTGAAGTATAGTAGCCCCATTTCATGTCAACTTGGGTTGCACAGCATCTGGAGCCCAGGACCACCACCTTCTATTCCTTTCTGTCTCACGTCTAAGGCACCTAAGCCAGAAGCCCAAGCTTTAACCTTGAGAGCTTCTCTTCTCCCTAAGGCCCCGGGGAAGAGGAGGATCTATACAGACAGGCTGTCCTGAACAGAGCACAGGTGGCAGAGGCAAAGACTCACACAGTGTCTAGGTGGTGGTATCCCAGTCCCAGCAGACCGTGAGCCCTTGCCCCATCTCCACGTGACATACTCTGGGCTTCCCCAGCCGCCTTCACCTGTGTGCATCCACCACCAGCCACCATGAACTGTGTACTCCCTGAAGACTACAGCTTCCTTGGTCCTGTGCTGTCTTCACACTCAGTCCACGCTGTCAGCCTAACACTGATGGGAAGGTGGCTTATGCTAGTGTGCAGTGGCCACATCATGAGGTCCTGCCACCATTTAGGGGCTTTTCTCCCAAGTCGGTGACATAAGCTGGGCTTATGGTTCCATCCTTCTGGATTCAGCTTTAAAGGGCTACACAGTCTGTCCCTGGGCTCAGTCATCCAAATCTAGCCTTCATAGTGGAAACAGTTTTTGCCTGTGCTTCAGGCTGGGCTGTAGCCTCAAACCACTGCTGTCTCTGACTCTCTGAACGGAGTCCACCCATGGTTTTGTTTGCTCTTTGGAGTTTGTACCCTGGTCCTCTGCAAATGCTCCTATAGTGCTGTCCTTCCTGTCCTCAGGTGCTCTCCCTCCAGCCCAGTGGTTCTGACTCATCCCATGCCCAGTTTGCTGCCTACTGGAAGCCAGTGCTGTCCATGGATGCAAATTCCTGGCAGCGATGGCTGCACATGCATCGCCTGGTGCTAATCCTGGAGCATGACACGTGGGTGCCCTTAGGGCTGGGCCATAGTTGGGGTGGAGTATCGGGGTCAGGGGGATAGGGAATGATGGGAAGGGGAGCAGCAGATGAGCTCTTACCAACTGTGGCCAAGGAAAAACTATAGCCTTTTCCTTGCCTCCCTGCTCTTCAGTCCCCATAACCTCAGGCAAGGCCTAGAAGAGAGTGATAGTAGTCTATTCCTTTTCTCCAAGCCTGGGGCCTGGAGGTCTAACCTCAGTCCACACCCCTCTTCCTAGACCAATCCCCAAGCACTTGCACACCCCGGGCAGCAATGGGCGCTACAGCACTATCCAGTGCAGGATCTCCCACTCCTCCCTGACCTCTCTGCTGCGGGACTGGAGCAGCTTCGTACTAGTCGAGGGCTATTCTTATGTTAAGCTGCTCTCCAGGTGGGCAAAGTGATGTCCCTTCACCCCCCGCCCCCCCACCCCCCCGCCACCTCATCCCATGTCTCCCTCTAACCCCAGACCTCACTGCTACTTCCTGCCAACCTTGGGCTGCTCACTGACTCCCATTTCTCCCCAGTGCCCCAGACCAGCCCCCCAATTCCTTCTACATGGTCCGTATCATTTCCAAGGCCCCATGCATGGTTCTTCGCCTGGGTTTTCCCATTGGCACACCAGCACCGGCCCGGCACAAGGTAAGCTGGGCCCTGACTGACTCTGACCAAGGAGCCCTAGGGTGTAGGATAGCTCCCTCTCCCCAAACCCCACAGGGCCAGGTCTAATAGAGGGAGGAGCCCCCAGACCAAGGAAGACCTGGAGAAGAGGGCTGTGTCTCACTTTGT
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CCACATGAAGCCAAGAGCCAGCGTGTAGCCTATAGGCAGGTGAATGGAATAGAGTAAGTTACTGGAGATGAGAGTTAAGGAACTGAGAGGGCAGGGACTTGAATGAGTAATCTGGAGCAGGTCTGCAAACACTTTCTGCAAAGGCCAGTCAGTCTTTAAGCCTTGTGGGCCACTTGGTCCGTCACAGCTACTCAGCTCTGCTGTTGAAGCGTGAAAGCAGCCACAGACAATACAAAATGAATGTGTGTGGCTGTGTTCCAATAAAACTCGATTCACAAAAATAGGTGATGGACTAGATTTGGCCCTCAGGGTATATGTAGTTTGCTAATTTCCCACCTACAGCTATTGTATTCAAAATGTAGTCCACAGACCAGCAGAAAGCTTGTTTGAAATGCAGAATCTCAGGCCCCACCCCAGACCTACTGCATTTTAACAAAATCCCCAGGTGTTTTTCATACACCCTAAAGTTTGAGAAGTGTTGGTAAGCTGAAGTCTCTCAGGATGATGACAGGAAGTCAGTGAACCAGTTGCCAAAATCTTTAGTGAAGGAGGTGGTGGGCCTTTAGGTATCGAGGAGGAAGCAAAGAGGATGCTGTGGCCGGTTAGCATGGGCATCAGACAGAAGGGCTTAAGGAAGGAAAGACACAGACAGTGGTCTGTCCTGGGAAAACACTGGCCTACTTCCCACTCTGTGGTCCAGGGAATGGGAGCAGCCACCTAGCCCAGTCTCTTTCTCTCCTGTTCTTCCTTCTCCTATGCCTCTGTCAGAGCTAGGTCTTCAGTTGCTCACTTTTTCCAGGTGGGAGGAGTTTACTCTTATGACTGCAGTTTTGGCCATGTGCCCAATGTGGAATTAATGAAGTTCATCGCAATGGCAACATTTGGGTCCTACCTGTCCACTTGTCCTGAGCCGGAGCCAGGCAACCTGGGTCTGACTGTCTACCACCGGGCATTTCTCCTCTATTCCTTCCTGCGCAGTGGGGAAGCACTGAACCCTGAATATTACTGCGGTGAGAGGCACACTGAGGTGGGTGTGGGAAGGAGGGAATATAGAATGGGCCCAGAGATGATGGGGCCCTGGAGGACTGAAAGTGTAACTGGGGCTGGCTCTGCTGGCACTGTTACCTCACAGTCATTTCAGCATAGCCCCTTCCCCCTACAGATCTGTCAGTTGGCAGATAACCAGTTTCTCCTTCCCCATCTCCACTGGTCTTCCAGGCTCTCAGCACCGCCTATTTAATGAGCACCTGGTCTCTGCAAGCAGCAACCCTGCCCTGGCCTTGCGCCGGAAGAAGCACACTGAGAAGGAGGTGCCAGCCGACTTGGTCAGCACTGTGTCCGTACGGCTTCGAGAGGGCTACAGTGTCCGAGAGGTCACACTGGCCAAAGGTAAGGGTCATTAGGCCCTGCTGTAATCCCATAGATCTCTCAAGAATTTGTGTGTGGGAAGACCCACATGTATCACACATGAAAGAGTGTCACATTGAAGTCCTTATCACTTGAGACAGTGGGTTTTGAATTGTCATCAGGGCTTAATTCTCTTAGCATGGAGCTTCCCAATTCTATCTCCTTTTGCCCAAGGTGAACCAGCTGAGGGTGGTATAGGGTCCTGAACTTGGCTTAGTTTTCAGATTGTTTCTACAAACTTGTGTTTGTGTCAGTGGGCCAACTCTGGGCCTGAAACCTGTGGAACCATGCTTGGAACCTTTGGCAGGACTGGGTTCCATGAGGTAGGTGGGGGTTTCAGATAGAACTCGATCCCAGGCCTAGAGTCCTATGCCTTCTCCTAACTGGCCCTTCCGCTTCTCCCTAAGGAGGGTCCCAATTGGAGGTAAAGCTGGTGCTGCTGTGGAAACACAACATGCGCATTGAGTATGTGGCTATGGCACCCTGGCCCCTGGAGCCTGAGGGCCCTCGAGTAACACGGGTGGAAGTGACGATGGAAGGCGGCTACGACATTTTGCATGATGTGTCCTGTGCACTAAGGCAGCCCATTCGTTCATTGTATCGTACCCATGTTATCCGGCGTTTCTGGAACACGCTGCAGATGTCAGTGAAGTCATCACTCAATGAGTGCTGCCCCATTTGTTGTATGGAGGGACAGATTTGCAAAGGCGGGAGCTGGGGAGCATCACCCAGAGAACCAGGCTTATATCCAGGGTCCCATGTCCCCCTAAGGCTCCCCTCATCTGCACCCAGCAGAGTCAGATATGGCTCAGGCCTGGCCCTTATTCTACAGCATCAACCAGACAGACCAGATGCTTGCCCACCTTCAGTCCTTCTCCTCAGTGCCTGAGCATTTCACGCTTCCTGACAGCACCAAGAGCGGAGTGCCACTCTTCTACATCCCTCCAGGCTCCACCACCCCGGTGAGTAGCTCTGAAGTATAGTAGCCCCATTTCATGTCAACTTGGGTTGCACAGCATCTGGAGCCCAGGACCACCACCTTCTATTCCTTTCTGTCTCACGTCTAAGGCACCTAAGCCAGAAGCCCAAGCTTTAACCTTGAGAGCTTCTCTTCTCCCTAAGGCCCCGGGGAAGAGGAGGATCTATACAGACAGGCTGTCCTGAACAGAGCACAGGTGGCAGAGGCAAAGACTCACACAGTGTCTAGGTGGTGGTATCCCAGTCCCAGCAGACCGTGAGCCCTTGCCCCATCTCCACGTGACATACTCTGGGCTTCCCCAGCCGCCTTCACCTGTGTGCATCCACCACCAGCCACCATGAACTGTGTACTCCCTGAAGACTACAGCTTCCTTGGTCCTGTGCTGTCTTCACACTCAGTCCACGCTGTCAGCCTAACACTGATGGGAAGGTGGCTTATGCTAGTGTGCAGTGGCCACATCATGAGGTCCTGCCACCATTTAGGGGCTTTTCTCCCAAGTCGGTGACATAAGCTGGGCTTATGGTTCCATCCTTCTGGATTCAGCTTTAAAGGGCTACACAGTCTGTCCCTGGGCTCAGTCATCCAAATCTAGCCTTCATAGTGGAAACAGTTTTTGCCTGTGCTTCAGGCTGGGCTGTAGCCTCAAACCACTGCTGTCTCTGACTCTCTGAACGGAGTCCACCCATGGTTTTGTTTGCTCTTTGGAGTTTGTACCCTGGTCCTCTGCAAATGCTCCTATAGTGCTGTCCTTCCTGTCCTCAGGTGCTCTCCCTCCAGCCCAGTGGTTCTGACTCATCCCATGCCCAGTTTGCTGCCTACTGGAAGCCAGTGCTGTCCATGGATGCAAATTCCTGGCAGCGATGGCTGCACATGCATCGCCTGGTGCTAATCCTGGAGCATGACACGTGGGTGCCCTTAGGGCTGGGCCATAGTTGGGGTGGAGTATCGGGGTCAGGGGGATAGGGAATGATGGGAAGGGGAGCAGCAGATGAGCTCTTACCAACTGTGGCCAAGGAAAAACTATAGCCTTTTCCTTGCCTCCCTGCTCTTCAGTCCCCATAACCTCAGGCAAGGCCTAGAAGAGAGTGATAGTAGTCTATTCCTTTTCTCCAAGCCTGGGGCCTGGAGGTCTAACCTCAGTCCACACCCCTCTTCCTAGACCAATCCCCAAGCACTTGCACACCCCGGGCAGCAATGGGCGCTACAGCACTATCCAGTGCAGGATCTCCCACTCCTCCCTGACCTCTCTGCTGCGGGACTGGAGCAGCTTCGTACTAGTCGAGGGCTATTCTTATGTTAAGCTGCTCTCCAGGTGGGCAAAGTGATGTCCCTTCACCCCCCGCCCCCCCACCCCCCCGCCACCTCATCCCATGTCTCCCTCTAACCCCAGACCTCACTGCTACTTCCTGCCAACCTTGGGCTGCTCACTGACTCCCATTTCTCCCCAGTGCCCCAGACCAGCCCCCCAATTCCTTCTACATGGTCCGTATCATTTCCAAGGCCCCATGCATGGTTCTTCGCCTGGGTTTTCCCATTGGCACACCAGCACCGGCCCGGCACAAGGTAAGCTGGGCCCTGACTGACTCTGACCAAGGAGCCCTAGGGTGTAGGATAGCTCCCTCTCCCCAAACCCCACAGGGCCAGGTCTAATAGAGGGAGGAGCCCCCAGACCAAGGAAGACCTGGAGAAGAGGGCTGTGTCTCACTTTGT
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Task1_train_821
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Mutation context: Chromosome 1, Gene SZT2 (SZT2 subunit of KICSTOR complex). Determine if this variant is likely to be benign or pathogenic. Mention the disease if applicable.
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Pathogenic; Self-limited epilepsy with centrotemporal spikes
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TGCACGGTAAGTAGAAGCCAGGGCCTGCACCCTCATGCTCCCATTAACCTCTTCTCTCTGCTCCCACAGTACCTCTCTCCAGTGTTGTTAGAAGTAAGACTTGGGACTGAGAGCTTGGGTAGAGATCCAACTTGTATTCTTAGGTTGGTGGTTCCCGATCACTTCCCACATCTTACAGCTAAGCACATCACATTCAACTGTCTTATAGATGAGAGTCGAAAAGCTGATGGGGATTTTGGCTTCTCGCTGAGCATTAACAACATCTAAGGATCAGAGCAGCTTTAGAAGTTCGTGTATAAAAATAAAGCATAATAAGGCTGGGCGTGGTAGCTCATGCCCGTAATCCCAGCACTTTGGGAGGCCGAGGCAGGCGGATCACTTGAGGTTAGGAGTTCGATACCAGCCTGGCCAACATGGTGAAACCCCGTCTCCATTAAAAATACAAAAATTAGTTGGGCGTGGTGGCAGGCGCCTGTAGTCCCAGCTAATTGGGAGGCTGAGGCAGAAGAATCTTGAACCTGGGAGGTGGAGATTGCAGTGAATGAGATTGTGCCACTGCACTCCAGCTGGGGCAACAGAGCAAGACACTGTCTCAAAAAATAATAAGGCATAATAGCTAATATTTATCAAGTGCATACTATGTGGTAGGCACTGTTCTGGTGCTTACATGAATCCACTCATTTATCTACATAACCCTACGGCGTATTAATGTCCTTATCATATGGGTGAAGAAACTGAAGCACAGGCCAGTTAAATACTTGCCCAAGGCCACAGTAAGTGACAGAGCCAGGATTCCTGCATAGGCATCAGTTCACTACTGCTCTCATCTCGGGTGGGTGGCATATGCAGGGTAAGGTGGGGCTGAGAAGAAAGGAAGACCACCATTCTGAAGAAGACTTGAGAAGAAAGAAGAGGTGCACAGCATAAAGGAGCCTCAGTGTGGTACCCGTATGGGAGCTGGTGAAGCAAGCGTGGAGCCTCGGCATCCAGAACTGCTCTTGAGAATTCCGTCTCTTCCATTTCCCACCAGGTTTACCTCTGTCCAAGCCTGCTCCCTTTTCATGGTTTCTCTTGGCCCCACCTCCATGACTTTCTCTCCCCCTCGTGATACGTATAACTGCAGTTATGTCATATACATATCATGCCATTACATATAACTCCTCCCCACTGCAGTTCTGGTCAGATTATCCTTCCTTCCCAGGAGCCTGATTCGGGAGGATGGGGGGCCGGGCACTGAGTGTCGCCACCTGCAGCAGCTCCTGGTGAGGCGAGTTGGGGAGATCTGCAGGGAGGTCAACCAGGTAAGGGGCAGGACTCTCCAGACCCGGACACACAGAGCAGATGAGAACCAAATTTCTAAGAACTTGATTTTCAGAGGCTATTGGTCCATTTCAGAATCAATAATTATGGAAAGTTTTTGACTTCCCCAGTTAGTAGGATGCTGTTTCTCCCCCAGCTCCCTACAGCCTTGGGAGTGCTCCACAACCCACCCCCAGTAACAGTGGGTTACTCTCTCATACCATCCCAGTAACCATGAGATACTCCCTCTCATTGCACTGTGCTAGCATTAGTGATATACTAGTGACCCAGACAGAGGGACGCTGTAACTCTGTGGAGCTTGTGTAGAATGGGGGACAGTTGAACAACTGAATTACACAACTTACTTCAATTACAATTGTGAAGAATCCTAAAAGGAACAGTAGAAGCTGCTACGAAAGCATGTAACAGGGATCTGACCATCTGAAGTATCAGGGAAAGCTTCTTAGAGGAAGTGATTTTTAAGCTGAGACTCGACGGATGGTGAACAGATTCTGGCACCAAAGGGGCAAGTGTTCCTGACTGAGAATCACTCTCAGAGGCCTGAGCTTTGACCTCTCTGTGATGACTGATATTCTTGTTGACCTCCAATCCCCAGTGATAGTGGTCATTCTCTCTGGCATTTGATCACCCCTGACCACCACCACCCACTTAGGAGGAGGTATTTCAGTTCCCTGACCTCATGCTCCTTCTCCCAGCGACTGCTTCTTCAAGACCTTCATGACAGCCACGTGTGTAACTCTCTTCTGGTGGCCGAGAGTGAAGAAGATCTGTGGCGCAGTGAGACTCCCTTCCACTCCCGTCAGCGGGCACCACTGCCCAGTGATGGTGAGATCCCACCCAGGAGCCTCCCTCACAAGGCAGTGCTGCCGCCCTTTCTTTTACCGAATACTCTGGTGAAAGCTGAGGGCAGAGTCCTCATTACTTGGTCATCAGTGCCAAGTACTAGAGAGAGAGCAAGGAGGATAGGACAGGAAAGGATCACTGGCCTTGGCTGCTGCTGCGAGTTCATCAGTGATTTTCATGGAAGTAATTTCAGTAGAGAGATGGGAATAGAAAGCAGATGAAATGAAAAGTGAAAGAGGGTGATAGGTGGGGCAGAGAATAACTACTCTTACAAGTAGCTTGGCAGTGAAGAGACAGAGAAAATAGATACGGCAGTAACTAAAGGAAGATGGGGGCAAGGAAGGAGCTTTAAAATAAAGTAGAGACTTGAGCTTGTTTATATTCTATAGGGAAAGAGCCAGGGGAGGGGGAGAGGTTGAAGAATACAGAAGAGGAGAGATCACTGAAGGGGCACCAGGCCATGATCTGTCTTCCTAAGAGTCTGCTTCTGCCTGGCCCTGTCTTGTTAACCAGAATGACCGTCTTTCCCTGGCAGGGAAATAGTCAGGAATGAGGAGTTTGGGAGAGTGAGAACAAGCGGGCCAGTTCCCAAGTAAGAGAAATCCAGAGGGGAGGAGCCTGAAGGCCAGTAGAATTGCCTTCTGATTGGCTGTTCCTCCAGACAGGCAGCCACAGGACTGCTTTGGGATTTCTAGTCATGGTAAGGGAACATGATAATCCACTCAAGATGGTAACTGAAGTCTCGACACTTCTCCCTTCTCTTACTCCTGATGACCTCTCACCCAGACGGATAGAGGAAAAGCTGAACCATAACATTCCTTTGCAGTTCTCCTCTGGTTTAAAAGTAAAATCAGACCACTCCTTATTTTTAACATTCTCAGCAAGTCTGTAGACAAACGTTTCTGATATCTCCAGGAGAATGCATCTCTCAGCACATCCTGGGATCTCCTCCATATCGAAGCAGAGTCCCCATAGTTAGTGGATTCCCATGGTTTCAAAGGCATCTTCTGCAAATTGAAGATGAGCTAGGACAGGTGAACAATTTTACTTCAGAATGACTTCCGGCAGCCTAAGATGTAAGACCAGTCAGAACCCAGACACAGCCCTTCCTCATTTTAGTCTCTCCAGAATTTTTCCCTGAAACCCTTAGCAACCAGCATTCCATTCCAGAGCCTCTGCCTTTACACAGAAACTTCAGCCTCCTGGGTAGCCTGTGTGCTGTTCACACTTGACAGCAGCTTCTCTGAGAAAACTGCCACTTTGATTCACCAGAAGGCTCCCTGGAAACCTGAAAAGGGTCGAAGGAGGCATTGTACTGTGGCCATGGGCTCCTGTGTACTGCCACACTACCCTTTGGGTTTATTGGCGTTTCTGTCTTCCAAAGCCCAGGACAAAGTTTATCCCTCCTCTGCAGCTGGTGTGCATAAGCAGCCATACCCTTTTGGTTTTAATGAGATTACTGTTGCAACTCCCTGGAGGACATAGTGTTAGAGTGCTACTGACATATATTATGACAGGGTCAGAATCTCTTGGCATGATCTTGAGGATTTCCTCATGCTTTGCCTGCCTTGATACCTCTCATTAGCTCCTTCTCTAAGTCTCCTTGAGATAGTTCTGGAAGCCTTTGTGCTATATGACCTGTGTTCCTAAGGGCATGCATCTGCCTGGCCCTGTCGTGTTACCCAGAATGATCATCATTTCTCTGCAATAGTCAGGGATGAGTCTGGAGGAGTGAGGACAAGTAGGCCAGTTCCCAGGTGAGAAGTCTGTGGAGGGCAGAGGGTGGTGTGTCCCATTTCTAATCCCTGCTCCCCCTCACCCAGATTATGCTGCTGATGAGAGCTGTGCGCCCCGTGGGTACCTGGCAGCCACAATGCAGTTTGTCCCTGGCCATTTCTCCTGTGACGTTGTGTGGGGAACTGTGATCCGAGTC
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TGCACGGTAAGTAGAAGCCAGGGCCTGCACCCTCATGCTCCCATTAACCTCTTCTCTCTGCTCCCACAGTACCTCTCTCCAGTGTTGTTAGAAGTAAGACTTGGGACTGAGAGCTTGGGTAGAGATCCAACTTGTATTCTTAGGTTGGTGGTTCCCGATCACTTCCCACATCTTACAGCTAAGCACATCACATTCAACTGTCTTATAGATGAGAGTCGAAAAGCTGATGGGGATTTTGGCTTCTCGCTGAGCATTAACAACATCTAAGGATCAGAGCAGCTTTAGAAGTTCGTGTATAAAAATAAAGCATAATAAGGCTGGGCGTGGTAGCTCATGCCCGTAATCCCAGCACTTTGGGAGGCCGAGGCAGGCGGATCACTTGAGGTTAGGAGTTCGATACCAGCCTGGCCAACATGGTGAAACCCCGTCTCCATTAAAAATACAAAAATTAGTTGGGCGTGGTGGCAGGCGCCTGTAGTCCCAGCTAATTGGGAGGCTGAGGCAGAAGAATCTTGAACCTGGGAGGTGGAGATTGCAGTGAATGAGATTGTGCCACTGCACTCCAGCTGGGGCAACAGAGCAAGACACTGTCTCAAAAAATAATAAGGCATAATAGCTAATATTTATCAAGTGCATACTATGTGGTAGGCACTGTTCTGGTGCTTACATGAATCCACTCATTTATCTACATAACCCTACGGCGTATTAATGTCCTTATCATATGGGTGAAGAAACTGAAGCACAGGCCAGTTAAATACTTGCCCAAGGCCACAGTAAGTGACAGAGCCAGGATTCCTGCATAGGCATCAGTTCACTACTGCTCTCATCTCGGGTGGGTGGCATATGCAGGGTAAGGTGGGGCTGAGAAGAAAGGAAGACCACCATTCTGAAGAAGACTTGAGAAGAAAGAAGAGGTGCACAGCATAAAGGAGCCTCAGTGTGGTACCCGTATGGGAGCTGGTGAAGCAAGCGTGGAGCCTCGGCATCCAGAACTGCTCTTGAGAATTCCGTCTCTTCCATTTCCCACCAGGTTTACCTCTGTCCAAGCCTGCTCCCTTTTCATGGTTTCTCTTGGCCCCACCTCCATGACTTTCTCTCCCCCTCGTGATACGTATAACTGCAGTTATGTCATATACATATCATGCCATTACATATAACTCCTCCCCACTGCAGTTCTGGTCAGATTATCCTTCCTTCCCAGGAGCCTGATTCGGGAGGATGGGGGGCCGGGCACTGAGTGTCGCCACCTGCAGCAGCTCCTGGTGAGGCGAGTTGGGGAGATCTGCAGGGAGGTCAACCAGGTAAGGGGCAGGACTCTCCAGACCCGGACACACAGAGCAGATGAGAACCAAATTTCTAAGAACTTGATTTTCAGAGGCTATTGGTCCATTTCAGAATCAATAATTATGGAAAGTTTTTGACTTCCCCAGTTAGTAGGATGCTGTTTCTCCCCCAGCTCCCTACAGCCTTGGGAGTGCTCCACAACCCACCCCCAGTAACAGTGGGTTACTCTCTCATACCATCCCAGTAACCATGAGATACTCCCTCTCATTGCACTGTGCTAGCATTAGTGATATACTAGTGACCCAGACAGAGGGACGCTGTAACTCTGTGGAGCTTGTGTAGAATGGGGGACAGTTGAACAACTGAATTACACAACTTACTTCAATTACAATTGTGAAGAATCCTAAAAGGAACAGTAGAAGCTGCTACGAAAGCATGTAACAGGGATCTGACCATCTGAAGTATCAGGGAAAGCTTCTTAGAGGAAGTGATTTTTAAGCTGAGACTCGACGGATGGTGAACAGATTCTGGCACCAAAGGGGCAAGTGTTCCTGACTGAGAATCACTCTCAGAGGCCTGAGCTTTGACCTCTCTGTGATGACTGATATTCTTGTTGACCTCCAATCCCCAGTGATAGTGGTCATTCTCTCTGGCATTTGATCACCCCTGACCACCACCACCCACTTAGGAGGAGGTATTTCAGTTCCCTGACCTCATGCTCCTTCTCCCAGCGACTGCTTCTTCAAGACCTTCATGACAGCCACATGTGTAACTCTCTTCTGGTGGCCGAGAGTGAAGAAGATCTGTGGCGCAGTGAGACTCCCTTCCACTCCCGTCAGCGGGCACCACTGCCCAGTGATGGTGAGATCCCACCCAGGAGCCTCCCTCACAAGGCAGTGCTGCCGCCCTTTCTTTTACCGAATACTCTGGTGAAAGCTGAGGGCAGAGTCCTCATTACTTGGTCATCAGTGCCAAGTACTAGAGAGAGAGCAAGGAGGATAGGACAGGAAAGGATCACTGGCCTTGGCTGCTGCTGCGAGTTCATCAGTGATTTTCATGGAAGTAATTTCAGTAGAGAGATGGGAATAGAAAGCAGATGAAATGAAAAGTGAAAGAGGGTGATAGGTGGGGCAGAGAATAACTACTCTTACAAGTAGCTTGGCAGTGAAGAGACAGAGAAAATAGATACGGCAGTAACTAAAGGAAGATGGGGGCAAGGAAGGAGCTTTAAAATAAAGTAGAGACTTGAGCTTGTTTATATTCTATAGGGAAAGAGCCAGGGGAGGGGGAGAGGTTGAAGAATACAGAAGAGGAGAGATCACTGAAGGGGCACCAGGCCATGATCTGTCTTCCTAAGAGTCTGCTTCTGCCTGGCCCTGTCTTGTTAACCAGAATGACCGTCTTTCCCTGGCAGGGAAATAGTCAGGAATGAGGAGTTTGGGAGAGTGAGAACAAGCGGGCCAGTTCCCAAGTAAGAGAAATCCAGAGGGGAGGAGCCTGAAGGCCAGTAGAATTGCCTTCTGATTGGCTGTTCCTCCAGACAGGCAGCCACAGGACTGCTTTGGGATTTCTAGTCATGGTAAGGGAACATGATAATCCACTCAAGATGGTAACTGAAGTCTCGACACTTCTCCCTTCTCTTACTCCTGATGACCTCTCACCCAGACGGATAGAGGAAAAGCTGAACCATAACATTCCTTTGCAGTTCTCCTCTGGTTTAAAAGTAAAATCAGACCACTCCTTATTTTTAACATTCTCAGCAAGTCTGTAGACAAACGTTTCTGATATCTCCAGGAGAATGCATCTCTCAGCACATCCTGGGATCTCCTCCATATCGAAGCAGAGTCCCCATAGTTAGTGGATTCCCATGGTTTCAAAGGCATCTTCTGCAAATTGAAGATGAGCTAGGACAGGTGAACAATTTTACTTCAGAATGACTTCCGGCAGCCTAAGATGTAAGACCAGTCAGAACCCAGACACAGCCCTTCCTCATTTTAGTCTCTCCAGAATTTTTCCCTGAAACCCTTAGCAACCAGCATTCCATTCCAGAGCCTCTGCCTTTACACAGAAACTTCAGCCTCCTGGGTAGCCTGTGTGCTGTTCACACTTGACAGCAGCTTCTCTGAGAAAACTGCCACTTTGATTCACCAGAAGGCTCCCTGGAAACCTGAAAAGGGTCGAAGGAGGCATTGTACTGTGGCCATGGGCTCCTGTGTACTGCCACACTACCCTTTGGGTTTATTGGCGTTTCTGTCTTCCAAAGCCCAGGACAAAGTTTATCCCTCCTCTGCAGCTGGTGTGCATAAGCAGCCATACCCTTTTGGTTTTAATGAGATTACTGTTGCAACTCCCTGGAGGACATAGTGTTAGAGTGCTACTGACATATATTATGACAGGGTCAGAATCTCTTGGCATGATCTTGAGGATTTCCTCATGCTTTGCCTGCCTTGATACCTCTCATTAGCTCCTTCTCTAAGTCTCCTTGAGATAGTTCTGGAAGCCTTTGTGCTATATGACCTGTGTTCCTAAGGGCATGCATCTGCCTGGCCCTGTCGTGTTACCCAGAATGATCATCATTTCTCTGCAATAGTCAGGGATGAGTCTGGAGGAGTGAGGACAAGTAGGCCAGTTCCCAGGTGAGAAGTCTGTGGAGGGCAGAGGGTGGTGTGTCCCATTTCTAATCCCTGCTCCCCCTCACCCAGATTATGCTGCTGATGAGAGCTGTGCGCCCCGTGGGTACCTGGCAGCCACAATGCAGTTTGTCCCTGGCCATTTCTCCTGTGACGTTGTGTGGGGAACTGTGATCCGAGTC
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Task1_train_822
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Here is a variant affecting SZT2 (SZT2 subunit of KICSTOR complex) on Chromosome 1. Please identify whether it is a benign mutation or associated with a disorder.
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Pathogenic; Self-limited epilepsy with centrotemporal spikes
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GGTAAGGTCTGAGGAGGGGGTAGGGGAGTCGCCACATGAGGTTCCAGAATCCTCTGGGACTTCTCTTAGAACCTTGCAAGCATTACACTAGAAGTTATGTAACAGTCTCAGCCCAAGACCTGACACATGTTAAGTGAGCCATAAATACTAGCTGGAGGCTCCAGACCCTCTGGGACTTCTCTTAGAACCTCCTATTACTCTGCCCTGGGTCCCTCCTCTAGTTCCTGCTGTGCTCGGGTCTTTCCTCAAGCAGGAGCTGCATGGGAAGGGACTGGCTTCTGCCATGTTCAGGGTTAGGACTGCAGTTGACTGAGGCACAGCTTGGGGAAGGGGAGCTGGGGTGGCTGGAGAACTGGTGGTGCCACCGACCTGATACCAGACTGGGTTCGGGGTGAAGAGGATGGTTATTTGGGATATATTTTGCCCCAGGTGTCCAGTAGGCAACTGGATTTTCCAGCTAATATTTATAGCTCAATTAACATGTGCTGGTCTTGGGCTGAGACTGTTAAATAACTTCTAGTGTAATTCTTGCAACAAACCTATGAGGGCGATGCTATTATAATTCTCATTTTATGGATGAAGGCACAGAGGTTTTGAGAGTAAAACTCAAGTGTCCATAGTGACATAACGAGTAGTTTGGCAGAATTGGAACCTAGTGCTGGCTACCTCCAGAGCCAGCACTCCTAACACTGCCTCTAGTATACAGGGGATTCTTTGAGTTTGGCATGATAGGGCTGCTATGGAGGTAGCTGGATCCTCTACCAGTGTCCCCACCTTCCCACCATGGCTGTGTCAAGGTCCTGAGATCACGGATGAGCTCGTGCGAGTTCTATGTCGGCGCCTGGATGAGGCCACGCTGGACGTCATCACAGTTATGCTTGTTCGGAACTGCAAGCTGACACCAGCTGATGTGGAGGTCAGCTCCCCTCTAGGCACCAGCATCCTTCCCAGACTCAGCCACAGGTTCCAGGACAGTCTAGGCTGGAACTTCTGCATTCAGCTCTGCCCTCTTCTTCCCACTCTGCAGTTCATCCAGCCCCCTGGAAGTCTCCCCTCAGAGGTGCTGCATCTGGCCCTACCCACCTCCTGCAGGCCCTGGCTTCCAGCCCTGGCATGGTACCTACGGCAGAACTTGCTCATCTTCCTGCACTCTCCCAAGTACACAGATAGCAACAGCCGGAACCACTTCCAAGTGAGATGGCACTCATCTCTCTCCACACTCATGTGCACCCCTGCCCCCTGCCCCACGCACTTACTCTTTCCTACCGATACCCCTATATGTACCTTTGCCCATGGACCTGGGTACACCCATGCCCCCCCGGGGACCATTATTACCCGCCTGTGTCTTCTCATGCTCCCATATCTACCTGCACCACATTCCCCACTGTGGGCACCCATCCCCGAGGGTTTTGTCCATTTGCTTGCTCTTAGTGCTCTGTGGCTGTTCTTTCCCCAGCATCCACTCCCACCACAGGGTGGCCTCCCTGACTTGGACATCTACTTGTATAACAAGCCTGGTGGACAGGGCACTGGGGGCAAAGGTACGGTGCAGGGCACGGGCCTGTGGCACCACCAGGTGAGGGAAAGCCTTTTGTCATCCTATTGCTAAGAGGACATTTCCCAGGCTTGCAGCTGAGTGGAGGGTCGTGGGAGGGGTGGTCTGCAAGTCCCAGAGCTGAGCCTTCCTATGGATTTCTACCCAGGGGTTGCCTGCATCACTCTAGCCTTTGTGGATGAAGGAGGGGCCCCCTTGTCACTGGCGTTGTGGCCCCCCTCCTCTCCGGGGCCCCCAGACCCACTGCGAGAGGAGGAATTTGAGCAACTGACCCAGGTCATCCGCTGCCCGGTTGTTGTGGACAGTTCTTCAGGTGGGACAGCTTGGTCAGAGGATGAGGTGTTCAGTTATTGCTGTGGGAGGTAAGGGTGGTGAGTAGAGTGGGATCTAGGGACACCCTCAAGTGTCCCTGTTCTCCTTCCAGCTCAGAATGGGGCCCCACGGCTTCGATTGGATGTGTGGGAAAAGGGGAACATTAGTATTGTGCAGCTGGAGGAGAAACTCCGAGGAGCAGCTCGCCAGGCCCTGGCCGATGCCATCATCGAGCTTCAGCTGCTGCCAGCTTCACTATGTACAGAGGACACACCCACAGGTATGCAAGTCAAGAGGTCCCTGGGGTCCAGAGAATGTCACAGATCCAAGCAGGACAGTGTGGCAGGTGAGCGTGCAAAGGTGGGGTTTAGGGGAAGCATGTCAGAGAACTACTACATCAGAACCACTTATTCACAGTTGTCCGTGAGCTTGTCTGGGCATCATCCAGGTGCTACACTGGCAGCAGTGAACGGATGCAGCTGCTCACCCACTTAGAGAGGGCTATTGCATCAGAGGCTCACTTCACACAAACACATGCAGCAGCACACTATCAGTTGTATATACTGTCATTCACTGACAGGTAGAATAGGTGGCAAGTCACTGTCATACCAGTCTTGAGGTTCAGTTTTCTAGAATGGGGATTGATGATCAGTGATGGGTGTCTGTAATGTCTGATGTCCACAGGAAGTCTCAGGAACGGATCGTTGGAAACTAAGAGCTCTGCAGGCCGAGCTAGCACCTTTCCCCCTGCCCCTGTCCCTGGGGAGCCTGTGACTCCACCCAGCAAAGCGGGCCGGCGTAGCTTCTGGGATATGCTGGTAATGGAAGAAGTGGTGAAGTGGGCATCTACCTTTCTGCCTGCCTCCTAGCTCCTCCCACACTCCCTCCTGCTTCCCAGTCCCCCATAGGCCTTGCCACAGTGTCCTTTCATATAAAACTGCTCTGTCCTGCCAGACACCATGGCGTGTACCTTTAGTCCCAGCTCCTCAGGAGGATGAAATGGGAGGATTTTGCTTCAGGCCAAGAGTTCAAGGCTGTAGTACGTTGTGATCATGCCTGTTAATGCACTCCAGCCTGGGCAACACACAAACACTCTGTCTCAAAAAAGCAAAACAAAAACTGCTCTGTCTTTTGGACTGGAGTTTGTAGAATGTGGCAGTTCTCACTGATGTAGAGGGAGCCTTAACTTACTATGTGCCTTCACTTCCATTTTTCTTGTCGGATCCTCACAACAGCTTGCAAGATAAGTAGAGCTTTTACAGTGAGGAAGGTGAGGCTCAGGAAAGTTAGGTAACCTGCCCAAGGCTCCTTAGCCAGCCCCTGGGGAAGCCAGGGTCTGAACCCAGACCTCTGAATCCTCCTAGCTCACTGCTGTTCCATAGTGCCCCCATCCCACACCTTTCCTCTTCCCAGTAGCCCTTCCTCATTCACTGCATTGCCCCCAGAGTAAAACAGAATGTGGGGATTTGGGTTCCCCCAAAACAACTGATGACATTGTCCTGGATCGGCCAGAAGACACTCGGGGCCGGAGGCGTCACAAAACCGAGAGTGTTCGGACTCCTGGTGGAGCTGAGCGGGCGCCAGGCTCAGATTCTGGAGCCCAGAGACAAAAGTATGTGTGTGGTGGTGGTGTGCCCTGGGAGGGTATGGGTGTGAAGTCACAGATGGGCCTTGGTCTGTATAAACATACAAGTGTCATGTATGGACATGAGGCTCTTACTCCCACTGTCTTCAGGCGCCGGACAACACAGCTAGAAGAGGGTGAGGTGGGGACCCTTCATCCTGTGTTTGCCCGTGTTGCTCAGCGCTGGATGGAGTTTATGGTTCAGATTGGTGAGACCCCAGCCTCCCCTCCCATCCCTCAACCCCAGCCTGGTCTCCATCCTGCAGCTCCACAGTGACTCCTCTGCCTCCTAGGTTGTGCCTCAGTGTCCAGAAGCTCTGCCCACATGGTGTCCCGGTTCCTCCTTCCATCCATCCTGTCTGAGTTCACCGCACTGGTCACCTCAATGGCTGGAGACACCAGTGTCCGCATCTTTGAGCAGCATTTGTGAGTGTAGATCCTATAGAATTGAAGGGAACTCCCCTAGACTTCCTAAAAGCTGGGCCTACAGGAAGCCAAACCTGAGGAAGCTGAGCTAGGAGAGGTGGAAACAAGGCCCAGGGAGGTGAAGGCTAGGCCAGGGAGTGGTGTCATGGATGGCCTTTCTGTCTGTCCTCCCTTTCAAT
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GGTAAGGTCTGAGGAGGGGGTAGGGGAGTCGCCACATGAGGTTCCAGAATCCTCTGGGACTTCTCTTAGAACCTTGCAAGCATTACACTAGAAGTTATGTAACAGTCTCAGCCCAAGACCTGACACATGTTAAGTGAGCCATAAATACTAGCTGGAGGCTCCAGACCCTCTGGGACTTCTCTTAGAACCTCCTATTACTCTGCCCTGGGTCCCTCCTCTAGTTCCTGCTGTGCTCGGGTCTTTCCTCAAGCAGGAGCTGCATGGGAAGGGACTGGCTTCTGCCATGTTCAGGGTTAGGACTGCAGTTGACTGAGGCACAGCTTGGGGAAGGGGAGCTGGGGTGGCTGGAGAACTGGTGGTGCCACCGACCTGATACCAGACTGGGTTCGGGGTGAAGAGGATGGTTATTTGGGATATATTTTGCCCCAGGTGTCCAGTAGGCAACTGGATTTTCCAGCTAATATTTATAGCTCAATTAACATGTGCTGGTCTTGGGCTGAGACTGTTAAATAACTTCTAGTGTAATTCTTGCAACAAACCTATGAGGGCGATGCTATTATAATTCTCATTTTATGGATGAAGGCACAGAGGTTTTGAGAGTAAAACTCAAGTGTCCATAGTGACATAACGAGTAGTTTGGCAGAATTGGAACCTAGTGCTGGCTACCTCCAGAGCCAGCACTCCTAACACTGCCTCTAGTATACAGGGGATTCTTTGAGTTTGGCATGATAGGGCTGCTATGGAGGTAGCTGGATCCTCTACCAGTGTCCCCACCTTCCCACCATGGCTGTGTCAAGGTCCTGAGATCACGGATGAGCTCGTGCGAGTTCTATGTCGGCGCCTGGATGAGGCCACGCTGGACGTCATCACAGTTATGCTTGTTCGGAACTGCAAGCTGACACCAGCTGATGTGGAGGTCAGCTCCCCTCTAGGCACCAGCATCCTTCCCAGACTCAGCCACAGGTTCCAGGACAGTCTAGGCTGGAACTTCTGCATTCAGCTCTGCCCTCTTCTTCCCACTCTGCAGTTCATCCAGCCCCCTGGAAGTCTCCCCTCAGAGGTGCTGCATCTGGCCCTACCCACCTCCTGCAGGCCCTGGCTTCCAGCCCTGGCATGGTACCTACGGCAGAACTTGCTCATCTTCCTGCACTCTCCCAAGTACACAGATAGCAACAGCCGGAACCACTTCCAAGTGAGATGGCACTCATCTCTCTCCACACTCATGTGCACCCCTGCCCCCTGCCCCACGCACTTACTCTTTCCTACCGATACCCCTATATGTACCTTTGCCCATGGACCTGGGTACACCCATGCCCCCCCGGGGACCATTATTACCCGCCTGTGTCTTCTCATGCTCCCATATCTACCTGCACCACATTCCCCACTGTGGGCACCCATCCCCGAGGGTTTTGTCCATTTGCTTGCTCTTAGTGCTCTGTGGCTGTTCTTTCCCCAGCATCCACTCCCACCACAGGGTGGCCTCCCTGACTTGGACATCTACTTGTATAACAAGCCTGGTGGACAGGGCACTGGGGGCAAAGGTACGGTGCAGGGCACGGGCCTGTGGCACCACCAGGTGAGGGAAAGCCTTTTGTCATCCTATTGCTAAGAGGACATTTCCCAGGCTTGCAGCTGAGTGGAGGGTCGTGGGAGGGGTGGTCTGCAAGTCCCAGAGCTGAGCCTTCCTATGGATTTCTACCCAGGGGTTGCCTGCATCACTCTAGCCTTTGTGGATGAAGGAGGGGCCCCCTTGTCACTGGCGTTGTGGCCCCCCTCCTCTCCGGGGCCCCCAGACCCACTGCGAGAGGAGGAATTTGAGCAACTGACCCAGGTCATCCGCTGCCCGGTTGTTGTGGACAGTTCTTCAGGTGGGACAGCTTGGTCAGAGGATGAGGTGTTCAGTTATTGCTGTGGGAGGTAAGGGTGGTGAGTAGAGTGGGATCTAGGGACACCCTCAAGTGTCCCTGTTCTCCTTCCAGCTCAGAATGGGGCCCCACGGCTTCGATTGGATGTGTGGGAAAAGGGGAACATTAGTATTGTGCAGCTGGTGGAGAAACTCCGAGGAGCAGCTCGCCAGGCCCTGGCCGATGCCATCATCGAGCTTCAGCTGCTGCCAGCTTCACTATGTACAGAGGACACACCCACAGGTATGCAAGTCAAGAGGTCCCTGGGGTCCAGAGAATGTCACAGATCCAAGCAGGACAGTGTGGCAGGTGAGCGTGCAAAGGTGGGGTTTAGGGGAAGCATGTCAGAGAACTACTACATCAGAACCACTTATTCACAGTTGTCCGTGAGCTTGTCTGGGCATCATCCAGGTGCTACACTGGCAGCAGTGAACGGATGCAGCTGCTCACCCACTTAGAGAGGGCTATTGCATCAGAGGCTCACTTCACACAAACACATGCAGCAGCACACTATCAGTTGTATATACTGTCATTCACTGACAGGTAGAATAGGTGGCAAGTCACTGTCATACCAGTCTTGAGGTTCAGTTTTCTAGAATGGGGATTGATGATCAGTGATGGGTGTCTGTAATGTCTGATGTCCACAGGAAGTCTCAGGAACGGATCGTTGGAAACTAAGAGCTCTGCAGGCCGAGCTAGCACCTTTCCCCCTGCCCCTGTCCCTGGGGAGCCTGTGACTCCACCCAGCAAAGCGGGCCGGCGTAGCTTCTGGGATATGCTGGTAATGGAAGAAGTGGTGAAGTGGGCATCTACCTTTCTGCCTGCCTCCTAGCTCCTCCCACACTCCCTCCTGCTTCCCAGTCCCCCATAGGCCTTGCCACAGTGTCCTTTCATATAAAACTGCTCTGTCCTGCCAGACACCATGGCGTGTACCTTTAGTCCCAGCTCCTCAGGAGGATGAAATGGGAGGATTTTGCTTCAGGCCAAGAGTTCAAGGCTGTAGTACGTTGTGATCATGCCTGTTAATGCACTCCAGCCTGGGCAACACACAAACACTCTGTCTCAAAAAAGCAAAACAAAAACTGCTCTGTCTTTTGGACTGGAGTTTGTAGAATGTGGCAGTTCTCACTGATGTAGAGGGAGCCTTAACTTACTATGTGCCTTCACTTCCATTTTTCTTGTCGGATCCTCACAACAGCTTGCAAGATAAGTAGAGCTTTTACAGTGAGGAAGGTGAGGCTCAGGAAAGTTAGGTAACCTGCCCAAGGCTCCTTAGCCAGCCCCTGGGGAAGCCAGGGTCTGAACCCAGACCTCTGAATCCTCCTAGCTCACTGCTGTTCCATAGTGCCCCCATCCCACACCTTTCCTCTTCCCAGTAGCCCTTCCTCATTCACTGCATTGCCCCCAGAGTAAAACAGAATGTGGGGATTTGGGTTCCCCCAAAACAACTGATGACATTGTCCTGGATCGGCCAGAAGACACTCGGGGCCGGAGGCGTCACAAAACCGAGAGTGTTCGGACTCCTGGTGGAGCTGAGCGGGCGCCAGGCTCAGATTCTGGAGCCCAGAGACAAAAGTATGTGTGTGGTGGTGGTGTGCCCTGGGAGGGTATGGGTGTGAAGTCACAGATGGGCCTTGGTCTGTATAAACATACAAGTGTCATGTATGGACATGAGGCTCTTACTCCCACTGTCTTCAGGCGCCGGACAACACAGCTAGAAGAGGGTGAGGTGGGGACCCTTCATCCTGTGTTTGCCCGTGTTGCTCAGCGCTGGATGGAGTTTATGGTTCAGATTGGTGAGACCCCAGCCTCCCCTCCCATCCCTCAACCCCAGCCTGGTCTCCATCCTGCAGCTCCACAGTGACTCCTCTGCCTCCTAGGTTGTGCCTCAGTGTCCAGAAGCTCTGCCCACATGGTGTCCCGGTTCCTCCTTCCATCCATCCTGTCTGAGTTCACCGCACTGGTCACCTCAATGGCTGGAGACACCAGTGTCCGCATCTTTGAGCAGCATTTGTGAGTGTAGATCCTATAGAATTGAAGGGAACTCCCCTAGACTTCCTAAAAGCTGGGCCTACAGGAAGCCAAACCTGAGGAAGCTGAGCTAGGAGAGGTGGAAACAAGGCCCAGGGAGGTGAAGGCTAGGCCAGGGAGTGGTGTCATGGATGGCCTTTCTGTCTGTCCTCCCTTTCAAT
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Task1_train_823
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A variant on Chromosome 1 in gene SZT2 (SZT2 subunit of KICSTOR complex) has been observed. Is this a neutral mutation, or does it result in a disease? If so, which one?
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Pathogenic; Developmental and epileptic encephalopathy, 18
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GATCAGTGATGGGTGTCTGTAATGTCTGATGTCCACAGGAAGTCTCAGGAACGGATCGTTGGAAACTAAGAGCTCTGCAGGCCGAGCTAGCACCTTTCCCCCTGCCCCTGTCCCTGGGGAGCCTGTGACTCCACCCAGCAAAGCGGGCCGGCGTAGCTTCTGGGATATGCTGGTAATGGAAGAAGTGGTGAAGTGGGCATCTACCTTTCTGCCTGCCTCCTAGCTCCTCCCACACTCCCTCCTGCTTCCCAGTCCCCCATAGGCCTTGCCACAGTGTCCTTTCATATAAAACTGCTCTGTCCTGCCAGACACCATGGCGTGTACCTTTAGTCCCAGCTCCTCAGGAGGATGAAATGGGAGGATTTTGCTTCAGGCCAAGAGTTCAAGGCTGTAGTACGTTGTGATCATGCCTGTTAATGCACTCCAGCCTGGGCAACACACAAACACTCTGTCTCAAAAAAGCAAAACAAAAACTGCTCTGTCTTTTGGACTGGAGTTTGTAGAATGTGGCAGTTCTCACTGATGTAGAGGGAGCCTTAACTTACTATGTGCCTTCACTTCCATTTTTCTTGTCGGATCCTCACAACAGCTTGCAAGATAAGTAGAGCTTTTACAGTGAGGAAGGTGAGGCTCAGGAAAGTTAGGTAACCTGCCCAAGGCTCCTTAGCCAGCCCCTGGGGAAGCCAGGGTCTGAACCCAGACCTCTGAATCCTCCTAGCTCACTGCTGTTCCATAGTGCCCCCATCCCACACCTTTCCTCTTCCCAGTAGCCCTTCCTCATTCACTGCATTGCCCCCAGAGTAAAACAGAATGTGGGGATTTGGGTTCCCCCAAAACAACTGATGACATTGTCCTGGATCGGCCAGAAGACACTCGGGGCCGGAGGCGTCACAAAACCGAGAGTGTTCGGACTCCTGGTGGAGCTGAGCGGGCGCCAGGCTCAGATTCTGGAGCCCAGAGACAAAAGTATGTGTGTGGTGGTGGTGTGCCCTGGGAGGGTATGGGTGTGAAGTCACAGATGGGCCTTGGTCTGTATAAACATACAAGTGTCATGTATGGACATGAGGCTCTTACTCCCACTGTCTTCAGGCGCCGGACAACACAGCTAGAAGAGGGTGAGGTGGGGACCCTTCATCCTGTGTTTGCCCGTGTTGCTCAGCGCTGGATGGAGTTTATGGTTCAGATTGGTGAGACCCCAGCCTCCCCTCCCATCCCTCAACCCCAGCCTGGTCTCCATCCTGCAGCTCCACAGTGACTCCTCTGCCTCCTAGGTTGTGCCTCAGTGTCCAGAAGCTCTGCCCACATGGTGTCCCGGTTCCTCCTTCCATCCATCCTGTCTGAGTTCACCGCACTGGTCACCTCAATGGCTGGAGACACCAGTGTCCGCATCTTTGAGCAGCATTTGTGAGTGTAGATCCTATAGAATTGAAGGGAACTCCCCTAGACTTCCTAAAAGCTGGGCCTACAGGAAGCCAAACCTGAGGAAGCTGAGCTAGGAGAGGTGGAAACAAGGCCCAGGGAGGTGAAGGCTAGGCCAGGGAGTGGTGTCATGGATGGCCTTTCTGTCTGTCCTCCCTTTCAATAGGGGTTCAGAGCCAGAGATCTTCGGCCCTTGTTCCCCTGGGCAACTGGGCCCCTCTCCCCGCCCTGCAGCTGAGCGGCATCTGCTGCTTCTGGGAAGGAACTTCTTGCAGTGGAGGAGACCAACACAGCAGGGTGAGGGCATGGCCCGGGGGGGCGGGGGGCGGGTAGGCTAAGAGTAACTGGTGGGGTCTCCAACCTTGCAGAGGGGAGGGTGGGATCAAGGGGGATCTGTTCCCAGGCCCCTATTGTGCCCCTCCCCCACCCTGTAGCTGCCAAAGCCATGCAGCGCTTCGAGCCAGGAGGTGATGGGAGCTCAGGGCGAAATGCTCCCCGGCAGAGGCTCTTGCTACTAGAGGTTGTGGACAAGAAGGTAAATATGGGGCCAGGGACTGGGTGGGAAGAGGGGTTCCGTGATCTCACTGACCCTGACCCCCGACCTCCAGCTACAGCTGCTGACCTACAACTGGGCTCCAGACCTGGGGGCAGCATTGGGCCGAGCGCTGGTTCGCCTGGTGCAGTGGCAGAATGCACGAGCCCATCTCATCTTCTGCCTACTCAGCCAGAAGCTTGGCCTCTTCCATCATTATGGCCAGTTGGACTTCCCCGTGCGAGATGAAAAGGTGCCTGCTGCTCTGGTTCTTCCTATAGTTTTGGCTACTGAGGGGTCAGTTAAAGGAAAAACCAGCTCAGAAGCCAGAAAGATGGGACAGACTGAGGGCAGAGGTAGTGGGGAGGGAGAGTCTGAGAGAGGAAGCCCTGGGATGAGAGAGAGGGTCCGAGGGCAAAGGCTATGAACCCATTGCAATGCTCCATCTCTCAGGAGCCAAACCCATTCCTGCTGCCGACCATGGAAGTGGAGACCCTCATCCGGAGTGCAAGTCCCCCGCTGAGCCGTGAGCAGGGCCGACTGAGTGGGTCCTCTCGTGGTGGGGGTCCTCTTCCCCTGGACACATTCCCCTTTGACGAGGCCCTAAGGGATATCACGGCTGCCCGCCCCAGCTCCGTACTTGGTCCTGTGCCCAGACCTCCTGATCCTGTCACCTACCATGGACAACAGTTCCTAGAGATCAAGATGGCAGAGCGCAGAGGTGAGGGTACTGGGCCAGGCAGCAGGGACAGGAAATCTGTGGAGTCTGGGAGGAAGGGAGTGACAATGCCTGGGGCTACTACTAATGCCCTCAACCCTCAGAGCTGGAGCGCCAGATGAAGATGGAAAACCTGTTTGTAACCTGGCAGCAGCGTTCTACCCCAGCCACCATGCCCATCAGTGTGAGTGACCCCAGCTTGCATCTTCCTTGAGTATCTGTGATCCTGCCCCGTCACTGCTCCATGCTCACTGCCCTGTTTCCCCAGGCTGGAGAGCTGGAGACCCTGAAGCAGTCATCCCGCCTGGTGCATTACTGTGCAACAGCCATGCTCTTCGACCCAGCTGCCTGGCTGCATGGGCCCCCAGAGACCTCTGGACCCCCTGACGGGCAGGTAAGGCTGACTCCCAGACTTCTAGCAGACCTTTGCTTACCCCACAGTGACCCCCCTCCTCCATCCCCAGCAGGATGGTTGACAGTGGGGAGAGTCTTCCTTGATCTTTACTCTCATAGCGGCGCCATCGCCCTGAGTCAGGGTCTGGGAGCCGAGAGGCCCCCACAAGCTGTGAATCCTTGGATGTGTCGCCCCCGGGAGCCCGTGAGGAGCCTTGGCTGAAGGAGCTGAGCTTGGCTTTCCTGCAGCAATATGTGCAGTATCTGCAGAGCATAGGTTTTGTGCTGGTACCACTGCGGCCCCCCTCACCCGCCCGCAGGTGAGCCCGTCCCTGTTTTCCCTTCTGTCTTCTCCTCCTGCACTGCAAGTGAGGCCCCACAGGCCCTTCCTCTCTTTACAAGGTCCTATGTTGACAATTTGGGCTGGGCCTGTGCATGTTTATCCCACCAGGCTTGCACTCATGTGAGGGTCTCAGATACTTTCACACAGCCCTCATGCGTGTCCTGCAGACCTTGTATGCTTTATGGAACTCATGATGACACTCATACAAAACTGTGTCCATTTTCACAAAGCTCATGCCCACACACATCTTGTACACTTACACACTTGCATACATCCCCACATGTGAATTTTTTTGGAGATGGAATCTCACTGTGTCGCCTAGGCTGGAGTGCAGTGGCGCGATCTCGGCTCACTGCAACCTCCACCTCCTGGGTTCGAGCAATTCTTGTGCCTCAGTCTCCCAAGTAGCTGGGATTACAGGTGCACGCCACCCTGCTTGGCTAATTTTTTGTATTTTAGTAGAGATGGGGTATCACCATGTTGCCTAGACTGGTCTTGAACTCCTCAACTCAGGTAGTCCGCCCACCTCAGCCTCCCAAAGTGCTAGGATTATAGGTGTGAGCCATCACGCCCGGCCTGCACATGTGAATCTTGTACATGCTCCTAAGCCTCTGGATCTAGGACTTAATGATTCCTGTCCTTATCATCCCACTGACCTCTCCTGAGATTTGATGTAGTTCTCGGCCCAGGG
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GATCAGTGATGGGTGTCTGTAATGTCTGATGTCCACAGGAAGTCTCAGGAACGGATCGTTGGAAACTAAGAGCTCTGCAGGCCGAGCTAGCACCTTTCCCCCTGCCCCTGTCCCTGGGGAGCCTGTGACTCCACCCAGCAAAGCGGGCCGGCGTAGCTTCTGGGATATGCTGGTAATGGAAGAAGTGGTGAAGTGGGCATCTACCTTTCTGCCTGCCTCCTAGCTCCTCCCACACTCCCTCCTGCTTCCCAGTCCCCCATAGGCCTTGCCACAGTGTCCTTTCATATAAAACTGCTCTGTCCTGCCAGACACCATGGCGTGTACCTTTAGTCCCAGCTCCTCAGGAGGATGAAATGGGAGGATTTTGCTTCAGGCCAAGAGTTCAAGGCTGTAGTACGTTGTGATCATGCCTGTTAATGCACTCCAGCCTGGGCAACACACAAACACTCTGTCTCAAAAAAGCAAAACAAAAACTGCTCTGTCTTTTGGACTGGAGTTTGTAGAATGTGGCAGTTCTCACTGATGTAGAGGGAGCCTTAACTTACTATGTGCCTTCACTTCCATTTTTCTTGTCGGATCCTCACAACAGCTTGCAAGATAAGTAGAGCTTTTACAGTGAGGAAGGTGAGGCTCAGGAAAGTTAGGTAACCTGCCCAAGGCTCCTTAGCCAGCCCCTGGGGAAGCCAGGGTCTGAACCCAGACCTCTGAATCCTCCTAGCTCACTGCTGTTCCATAGTGCCCCCATCCCACACCTTTCCTCTTCCCAGTAGCCCTTCCTCATTCACTGCATTGCCCCCAGAGTAAAACAGAATGTGGGGATTTGGGTTCCCCCAAAACAACTGATGACATTGTCCTGGATCGGCCAGAAGACACTCGGGGCCGGAGGCGTCACAAAACCGAGAGTGTTCGGACTCCTGGTGGAGCTGAGCGGGCGCCAGGCTCAGATTCTGGAGCCCAGAGACAAAAGTATGTGTGTGGTGGTGGTGTGCCCTGGGAGGGTATGGGTGTGAAGTCACAGATGGGCCTTGGTCTGTATAAACATACAAGTGTCATGTATGGACATGAGGCTCTTACTCCCACTGTCTTCAGGCGCCGGACAACACAGCTAGAAGAGGGTGAGGTGGGGACCCTTCATCCTGTGTTTGCCCGTGTTGCTCAGCGCTGGATGGAGTTTATGGTTCAGATTGGTGAGACCCCAGCCTCCCCTCCCATCCCTCAACCCCAGCCTGGTCTCCATCCTGCAGCTCCACAGTGACTCCTCTGCCTCCTAGGTTGTGCCTCAGTGTCCAGAAGCTCTGCCCACATGGTGTCCCGGTTCCTCCTTCCATCCATCCTGTCTGAGTTCACCGCACTGGTCACCTCAATGGCTGGAGACACCAGTGTCCGCATCTTTGAGCAGCATTTGTGAGTGTAGATCCTATAGAATTGAAGGGAACTCCCCTAGACTTCCTAAAAGCTGGGCCTACAGGAAGCCAAACCTGAGGAAGCTGAGCTAGGAGAGGTGGAAACAAGGCCCAGGGAGGTGAAGGCTAGGCCAGGGAGTGGTGTCATGGATGGCCTTTCTGTCTGTCCTCCCTTTCAATAGGGGTTCAGAGCCAGAGATCTTCGGCCCTTGTTCCCCTGGGCAACTGGGCCCCTCTCCCCGCCCTGCAGCTGAGCGGCATCTGCTGCTTCTGGGAAGGAACTTCTTGCAGTGGAGGAGACCAACACAGCAGGGTGAGGGCATGGCCCGGGGGGGCGGGGGGCGGGTAGGCTAAGAGTAACTGGTGGGGTCTCCAACCTTGCAGAGGGGAGGGTGGGATCAAGGGGGATCTGTTCCCAGGCCCCTATTGTGCCCCTCCCCCACCCTGTAGCTGCCAAAGCCATGCAGCGCTTCGAGCCAGGAGGTGATGGGAGCTCAGGGCGAAATGCTCCCCGGCAGAGGCTCTTGCTACTAGAGGTTGTGGACAAGAAGGTAAATATGGGGCCAGGGACTGGGTGGGAAGAGGGGTTCCGTGATCTCACTGACCCTGACCCCCGACCTCCAGCTACAGCTGCTGACCTACAACGGGGCTCCAGACCTGGGGGCAGCATTGGGCCGAGCGCTGGTTCGCCTGGTGCAGTGGCAGAATGCACGAGCCCATCTCATCTTCTGCCTACTCAGCCAGAAGCTTGGCCTCTTCCATCATTATGGCCAGTTGGACTTCCCCGTGCGAGATGAAAAGGTGCCTGCTGCTCTGGTTCTTCCTATAGTTTTGGCTACTGAGGGGTCAGTTAAAGGAAAAACCAGCTCAGAAGCCAGAAAGATGGGACAGACTGAGGGCAGAGGTAGTGGGGAGGGAGAGTCTGAGAGAGGAAGCCCTGGGATGAGAGAGAGGGTCCGAGGGCAAAGGCTATGAACCCATTGCAATGCTCCATCTCTCAGGAGCCAAACCCATTCCTGCTGCCGACCATGGAAGTGGAGACCCTCATCCGGAGTGCAAGTCCCCCGCTGAGCCGTGAGCAGGGCCGACTGAGTGGGTCCTCTCGTGGTGGGGGTCCTCTTCCCCTGGACACATTCCCCTTTGACGAGGCCCTAAGGGATATCACGGCTGCCCGCCCCAGCTCCGTACTTGGTCCTGTGCCCAGACCTCCTGATCCTGTCACCTACCATGGACAACAGTTCCTAGAGATCAAGATGGCAGAGCGCAGAGGTGAGGGTACTGGGCCAGGCAGCAGGGACAGGAAATCTGTGGAGTCTGGGAGGAAGGGAGTGACAATGCCTGGGGCTACTACTAATGCCCTCAACCCTCAGAGCTGGAGCGCCAGATGAAGATGGAAAACCTGTTTGTAACCTGGCAGCAGCGTTCTACCCCAGCCACCATGCCCATCAGTGTGAGTGACCCCAGCTTGCATCTTCCTTGAGTATCTGTGATCCTGCCCCGTCACTGCTCCATGCTCACTGCCCTGTTTCCCCAGGCTGGAGAGCTGGAGACCCTGAAGCAGTCATCCCGCCTGGTGCATTACTGTGCAACAGCCATGCTCTTCGACCCAGCTGCCTGGCTGCATGGGCCCCCAGAGACCTCTGGACCCCCTGACGGGCAGGTAAGGCTGACTCCCAGACTTCTAGCAGACCTTTGCTTACCCCACAGTGACCCCCCTCCTCCATCCCCAGCAGGATGGTTGACAGTGGGGAGAGTCTTCCTTGATCTTTACTCTCATAGCGGCGCCATCGCCCTGAGTCAGGGTCTGGGAGCCGAGAGGCCCCCACAAGCTGTGAATCCTTGGATGTGTCGCCCCCGGGAGCCCGTGAGGAGCCTTGGCTGAAGGAGCTGAGCTTGGCTTTCCTGCAGCAATATGTGCAGTATCTGCAGAGCATAGGTTTTGTGCTGGTACCACTGCGGCCCCCCTCACCCGCCCGCAGGTGAGCCCGTCCCTGTTTTCCCTTCTGTCTTCTCCTCCTGCACTGCAAGTGAGGCCCCACAGGCCCTTCCTCTCTTTACAAGGTCCTATGTTGACAATTTGGGCTGGGCCTGTGCATGTTTATCCCACCAGGCTTGCACTCATGTGAGGGTCTCAGATACTTTCACACAGCCCTCATGCGTGTCCTGCAGACCTTGTATGCTTTATGGAACTCATGATGACACTCATACAAAACTGTGTCCATTTTCACAAAGCTCATGCCCACACACATCTTGTACACTTACACACTTGCATACATCCCCACATGTGAATTTTTTTGGAGATGGAATCTCACTGTGTCGCCTAGGCTGGAGTGCAGTGGCGCGATCTCGGCTCACTGCAACCTCCACCTCCTGGGTTCGAGCAATTCTTGTGCCTCAGTCTCCCAAGTAGCTGGGATTACAGGTGCACGCCACCCTGCTTGGCTAATTTTTTGTATTTTAGTAGAGATGGGGTATCACCATGTTGCCTAGACTGGTCTTGAACTCCTCAACTCAGGTAGTCCGCCCACCTCAGCCTCCCAAAGTGCTAGGATTATAGGTGTGAGCCATCACGCCCGGCCTGCACATGTGAATCTTGTACATGCTCCTAAGCCTCTGGATCTAGGACTTAATGATTCCTGTCCTTATCATCCCACTGACCTCTCCTGAGATTTGATGTAGTTCTCGGCCCAGGG
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Task1_train_824
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Chromosome 1 houses a mutation in gene SZT2 (SZT2 subunit of KICSTOR complex). Classify its clinical impact — is it pathogenic or benign, and what disease does it lead to if any?
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Pathogenic; Developmental and epileptic encephalopathy, 18
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TAACTTACTATGTGCCTTCACTTCCATTTTTCTTGTCGGATCCTCACAACAGCTTGCAAGATAAGTAGAGCTTTTACAGTGAGGAAGGTGAGGCTCAGGAAAGTTAGGTAACCTGCCCAAGGCTCCTTAGCCAGCCCCTGGGGAAGCCAGGGTCTGAACCCAGACCTCTGAATCCTCCTAGCTCACTGCTGTTCCATAGTGCCCCCATCCCACACCTTTCCTCTTCCCAGTAGCCCTTCCTCATTCACTGCATTGCCCCCAGAGTAAAACAGAATGTGGGGATTTGGGTTCCCCCAAAACAACTGATGACATTGTCCTGGATCGGCCAGAAGACACTCGGGGCCGGAGGCGTCACAAAACCGAGAGTGTTCGGACTCCTGGTGGAGCTGAGCGGGCGCCAGGCTCAGATTCTGGAGCCCAGAGACAAAAGTATGTGTGTGGTGGTGGTGTGCCCTGGGAGGGTATGGGTGTGAAGTCACAGATGGGCCTTGGTCTGTATAAACATACAAGTGTCATGTATGGACATGAGGCTCTTACTCCCACTGTCTTCAGGCGCCGGACAACACAGCTAGAAGAGGGTGAGGTGGGGACCCTTCATCCTGTGTTTGCCCGTGTTGCTCAGCGCTGGATGGAGTTTATGGTTCAGATTGGTGAGACCCCAGCCTCCCCTCCCATCCCTCAACCCCAGCCTGGTCTCCATCCTGCAGCTCCACAGTGACTCCTCTGCCTCCTAGGTTGTGCCTCAGTGTCCAGAAGCTCTGCCCACATGGTGTCCCGGTTCCTCCTTCCATCCATCCTGTCTGAGTTCACCGCACTGGTCACCTCAATGGCTGGAGACACCAGTGTCCGCATCTTTGAGCAGCATTTGTGAGTGTAGATCCTATAGAATTGAAGGGAACTCCCCTAGACTTCCTAAAAGCTGGGCCTACAGGAAGCCAAACCTGAGGAAGCTGAGCTAGGAGAGGTGGAAACAAGGCCCAGGGAGGTGAAGGCTAGGCCAGGGAGTGGTGTCATGGATGGCCTTTCTGTCTGTCCTCCCTTTCAATAGGGGTTCAGAGCCAGAGATCTTCGGCCCTTGTTCCCCTGGGCAACTGGGCCCCTCTCCCCGCCCTGCAGCTGAGCGGCATCTGCTGCTTCTGGGAAGGAACTTCTTGCAGTGGAGGAGACCAACACAGCAGGGTGAGGGCATGGCCCGGGGGGGCGGGGGGCGGGTAGGCTAAGAGTAACTGGTGGGGTCTCCAACCTTGCAGAGGGGAGGGTGGGATCAAGGGGGATCTGTTCCCAGGCCCCTATTGTGCCCCTCCCCCACCCTGTAGCTGCCAAAGCCATGCAGCGCTTCGAGCCAGGAGGTGATGGGAGCTCAGGGCGAAATGCTCCCCGGCAGAGGCTCTTGCTACTAGAGGTTGTGGACAAGAAGGTAAATATGGGGCCAGGGACTGGGTGGGAAGAGGGGTTCCGTGATCTCACTGACCCTGACCCCCGACCTCCAGCTACAGCTGCTGACCTACAACTGGGCTCCAGACCTGGGGGCAGCATTGGGCCGAGCGCTGGTTCGCCTGGTGCAGTGGCAGAATGCACGAGCCCATCTCATCTTCTGCCTACTCAGCCAGAAGCTTGGCCTCTTCCATCATTATGGCCAGTTGGACTTCCCCGTGCGAGATGAAAAGGTGCCTGCTGCTCTGGTTCTTCCTATAGTTTTGGCTACTGAGGGGTCAGTTAAAGGAAAAACCAGCTCAGAAGCCAGAAAGATGGGACAGACTGAGGGCAGAGGTAGTGGGGAGGGAGAGTCTGAGAGAGGAAGCCCTGGGATGAGAGAGAGGGTCCGAGGGCAAAGGCTATGAACCCATTGCAATGCTCCATCTCTCAGGAGCCAAACCCATTCCTGCTGCCGACCATGGAAGTGGAGACCCTCATCCGGAGTGCAAGTCCCCCGCTGAGCCGTGAGCAGGGCCGACTGAGTGGGTCCTCTCGTGGTGGGGGTCCTCTTCCCCTGGACACATTCCCCTTTGACGAGGCCCTAAGGGATATCACGGCTGCCCGCCCCAGCTCCGTACTTGGTCCTGTGCCCAGACCTCCTGATCCTGTCACCTACCATGGACAACAGTTCCTAGAGATCAAGATGGCAGAGCGCAGAGGTGAGGGTACTGGGCCAGGCAGCAGGGACAGGAAATCTGTGGAGTCTGGGAGGAAGGGAGTGACAATGCCTGGGGCTACTACTAATGCCCTCAACCCTCAGAGCTGGAGCGCCAGATGAAGATGGAAAACCTGTTTGTAACCTGGCAGCAGCGTTCTACCCCAGCCACCATGCCCATCAGTGTGAGTGACCCCAGCTTGCATCTTCCTTGAGTATCTGTGATCCTGCCCCGTCACTGCTCCATGCTCACTGCCCTGTTTCCCCAGGCTGGAGAGCTGGAGACCCTGAAGCAGTCATCCCGCCTGGTGCATTACTGTGCAACAGCCATGCTCTTCGACCCAGCTGCCTGGCTGCATGGGCCCCCAGAGACCTCTGGACCCCCTGACGGGCAGGTAAGGCTGACTCCCAGACTTCTAGCAGACCTTTGCTTACCCCACAGTGACCCCCCTCCTCCATCCCCAGCAGGATGGTTGACAGTGGGGAGAGTCTTCCTTGATCTTTACTCTCATAGCGGCGCCATCGCCCTGAGTCAGGGTCTGGGAGCCGAGAGGCCCCCACAAGCTGTGAATCCTTGGATGTGTCGCCCCCGGGAGCCCGTGAGGAGCCTTGGCTGAAGGAGCTGAGCTTGGCTTTCCTGCAGCAATATGTGCAGTATCTGCAGAGCATAGGTTTTGTGCTGGTACCACTGCGGCCCCCCTCACCCGCCCGCAGGTGAGCCCGTCCCTGTTTTCCCTTCTGTCTTCTCCTCCTGCACTGCAAGTGAGGCCCCACAGGCCCTTCCTCTCTTTACAAGGTCCTATGTTGACAATTTGGGCTGGGCCTGTGCATGTTTATCCCACCAGGCTTGCACTCATGTGAGGGTCTCAGATACTTTCACACAGCCCTCATGCGTGTCCTGCAGACCTTGTATGCTTTATGGAACTCATGATGACACTCATACAAAACTGTGTCCATTTTCACAAAGCTCATGCCCACACACATCTTGTACACTTACACACTTGCATACATCCCCACATGTGAATTTTTTTGGAGATGGAATCTCACTGTGTCGCCTAGGCTGGAGTGCAGTGGCGCGATCTCGGCTCACTGCAACCTCCACCTCCTGGGTTCGAGCAATTCTTGTGCCTCAGTCTCCCAAGTAGCTGGGATTACAGGTGCACGCCACCCTGCTTGGCTAATTTTTTGTATTTTAGTAGAGATGGGGTATCACCATGTTGCCTAGACTGGTCTTGAACTCCTCAACTCAGGTAGTCCGCCCACCTCAGCCTCCCAAAGTGCTAGGATTATAGGTGTGAGCCATCACGCCCGGCCTGCACATGTGAATCTTGTACATGCTCCTAAGCCTCTGGATCTAGGACTTAATGATTCCTGTCCTTATCATCCCACTGACCTCTCCTGAGATTTGATGTAGTTCTCGGCCCAGGGAAGTCCTTTTCTCACCAAGGACCTCTGTGCTAGGCCTACTTGCATCACTGTCCTTGGCCTGTTCTTGGTCATGTTCACCCACTGGCCAGTACTGACAGGTCTGAGTCTTGGGAAGTAGGCAGCCCGTCTGTTGCCACCTCCATCTCCCCTGAGCTCAGGGACAACTCTGCAGCCACCTTTTCATCCACTGTCAAATCTCAGATTCCCGTGTTTGTGGCCCCTGCTCTATGTTCCTCTCCAGATTCTGTGTTCTCTGCCCTTTCCCAGTGGCTGTATGCGAAAAATGAGCTGTTCACCTTACACATAGCTACTTTCGTGTCTCCAGATTTGTGAGTTTATCAAGGCATGTTCTCCCTCCTCTCTGTTTTCAGTTAGAACCTTTTCAAGCCAGTAGTCCAGAAATGCCAGTTCCAACTCTCTCATGTTTCTGTGACCAGCTCCCCACTCCCCAGGTTTCCCTCTCTTCCAGGCATTAGGAAGAGAAGGCGTGCCTGCCCCTCCTGTGATCCCATCTCAGAGGCCAGGCTGGCCCCTCCT
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TAACTTACTATGTGCCTTCACTTCCATTTTTCTTGTCGGATCCTCACAACAGCTTGCAAGATAAGTAGAGCTTTTACAGTGAGGAAGGTGAGGCTCAGGAAAGTTAGGTAACCTGCCCAAGGCTCCTTAGCCAGCCCCTGGGGAAGCCAGGGTCTGAACCCAGACCTCTGAATCCTCCTAGCTCACTGCTGTTCCATAGTGCCCCCATCCCACACCTTTCCTCTTCCCAGTAGCCCTTCCTCATTCACTGCATTGCCCCCAGAGTAAAACAGAATGTGGGGATTTGGGTTCCCCCAAAACAACTGATGACATTGTCCTGGATCGGCCAGAAGACACTCGGGGCCGGAGGCGTCACAAAACCGAGAGTGTTCGGACTCCTGGTGGAGCTGAGCGGGCGCCAGGCTCAGATTCTGGAGCCCAGAGACAAAAGTATGTGTGTGGTGGTGGTGTGCCCTGGGAGGGTATGGGTGTGAAGTCACAGATGGGCCTTGGTCTGTATAAACATACAAGTGTCATGTATGGACATGAGGCTCTTACTCCCACTGTCTTCAGGCGCCGGACAACACAGCTAGAAGAGGGTGAGGTGGGGACCCTTCATCCTGTGTTTGCCCGTGTTGCTCAGCGCTGGATGGAGTTTATGGTTCAGATTGGTGAGACCCCAGCCTCCCCTCCCATCCCTCAACCCCAGCCTGGTCTCCATCCTGCAGCTCCACAGTGACTCCTCTGCCTCCTAGGTTGTGCCTCAGTGTCCAGAAGCTCTGCCCACATGGTGTCCCGGTTCCTCCTTCCATCCATCCTGTCTGAGTTCACCGCACTGGTCACCTCAATGGCTGGAGACACCAGTGTCCGCATCTTTGAGCAGCATTTGTGAGTGTAGATCCTATAGAATTGAAGGGAACTCCCCTAGACTTCCTAAAAGCTGGGCCTACAGGAAGCCAAACCTGAGGAAGCTGAGCTAGGAGAGGTGGAAACAAGGCCCAGGGAGGTGAAGGCTAGGCCAGGGAGTGGTGTCATGGATGGCCTTTCTGTCTGTCCTCCCTTTCAATAGGGGTTCAGAGCCAGAGATCTTCGGCCCTTGTTCCCCTGGGCAACTGGGCCCCTCTCCCCGCCCTGCAGCTGAGCGGCATCTGCTGCTTCTGGGAAGGAACTTCTTGCAGTGGAGGAGACCAACACAGCAGGGTGAGGGCATGGCCCGGGGGGGCGGGGGGCGGGTAGGCTAAGAGTAACTGGTGGGGTCTCCAACCTTGCAGAGGGGAGGGTGGGATCAAGGGGGATCTGTTCCCAGGCCCCTATTGTGCCCCTCCCCCACCCTGTAGCTGCCAAAGCCATGCAGCGCTTCGAGCCAGGAGGTGATGGGAGCTCAGGGCGAAATGCTCCCCGGCAGAGGCTCTTGCTACTAGAGGTTGTGGACAAGAAGGTAAATATGGGGCCAGGGACTGGGTGGGAAGAGGGGTTCCGTGATCTCACTGACCCTGACCCCCGACCTCCAGCTACAGCTGCTGACCTACAACTGGGCTCCAGACCTGGGGGCAGCATTGGGCCGAGCGCTGGTTCGCCTGGTGCAGTGGCAGAATGCACGAGCCCATCTCATCTTCTGCCTACTCAGCCAGAAGCTTGGCCTCTTCCATCATTATGGCCAGTTGGACTTCCCCGTGCGAGATGAAAAGGTGCCTGCTGCTCTGGTTCTTCCTATAGTTTTGGCTACTGAGGGGTCAGTTAAAGGAAAAACCAGCTCAGAAGCCAGAAAGATGGGACAGACTGAGGGCAGAGGTAGTGGGGAGGGAGAGTCTGAGAGAGGAAGCCCTGGGATGAGAGAGAGGGTCCGAGGGCAAAGGCTATGAACCCATTGCAATGCTCCATCTCTCAGGAGCCAAACCCATTCCTGCTGCCGACCATGGAAGTGGAGACCCTCATCCGGAGTGCAAGTCCCCCGCTGAGCCGTGAGCAGGGCCGACTGAGTGGGTCCTCTCGTGGTGGGGGTCCTCTTCCCCTGGACACATTCCCCTTTGACGAGGCCCTAAGGGATATCACGGCTGCCCGCCCCAGCTGCGTACTTGGTCCTGTGCCCAGACCTCCTGATCCTGTCACCTACCATGGACAACAGTTCCTAGAGATCAAGATGGCAGAGCGCAGAGGTGAGGGTACTGGGCCAGGCAGCAGGGACAGGAAATCTGTGGAGTCTGGGAGGAAGGGAGTGACAATGCCTGGGGCTACTACTAATGCCCTCAACCCTCAGAGCTGGAGCGCCAGATGAAGATGGAAAACCTGTTTGTAACCTGGCAGCAGCGTTCTACCCCAGCCACCATGCCCATCAGTGTGAGTGACCCCAGCTTGCATCTTCCTTGAGTATCTGTGATCCTGCCCCGTCACTGCTCCATGCTCACTGCCCTGTTTCCCCAGGCTGGAGAGCTGGAGACCCTGAAGCAGTCATCCCGCCTGGTGCATTACTGTGCAACAGCCATGCTCTTCGACCCAGCTGCCTGGCTGCATGGGCCCCCAGAGACCTCTGGACCCCCTGACGGGCAGGTAAGGCTGACTCCCAGACTTCTAGCAGACCTTTGCTTACCCCACAGTGACCCCCCTCCTCCATCCCCAGCAGGATGGTTGACAGTGGGGAGAGTCTTCCTTGATCTTTACTCTCATAGCGGCGCCATCGCCCTGAGTCAGGGTCTGGGAGCCGAGAGGCCCCCACAAGCTGTGAATCCTTGGATGTGTCGCCCCCGGGAGCCCGTGAGGAGCCTTGGCTGAAGGAGCTGAGCTTGGCTTTCCTGCAGCAATATGTGCAGTATCTGCAGAGCATAGGTTTTGTGCTGGTACCACTGCGGCCCCCCTCACCCGCCCGCAGGTGAGCCCGTCCCTGTTTTCCCTTCTGTCTTCTCCTCCTGCACTGCAAGTGAGGCCCCACAGGCCCTTCCTCTCTTTACAAGGTCCTATGTTGACAATTTGGGCTGGGCCTGTGCATGTTTATCCCACCAGGCTTGCACTCATGTGAGGGTCTCAGATACTTTCACACAGCCCTCATGCGTGTCCTGCAGACCTTGTATGCTTTATGGAACTCATGATGACACTCATACAAAACTGTGTCCATTTTCACAAAGCTCATGCCCACACACATCTTGTACACTTACACACTTGCATACATCCCCACATGTGAATTTTTTTGGAGATGGAATCTCACTGTGTCGCCTAGGCTGGAGTGCAGTGGCGCGATCTCGGCTCACTGCAACCTCCACCTCCTGGGTTCGAGCAATTCTTGTGCCTCAGTCTCCCAAGTAGCTGGGATTACAGGTGCACGCCACCCTGCTTGGCTAATTTTTTGTATTTTAGTAGAGATGGGGTATCACCATGTTGCCTAGACTGGTCTTGAACTCCTCAACTCAGGTAGTCCGCCCACCTCAGCCTCCCAAAGTGCTAGGATTATAGGTGTGAGCCATCACGCCCGGCCTGCACATGTGAATCTTGTACATGCTCCTAAGCCTCTGGATCTAGGACTTAATGATTCCTGTCCTTATCATCCCACTGACCTCTCCTGAGATTTGATGTAGTTCTCGGCCCAGGGAAGTCCTTTTCTCACCAAGGACCTCTGTGCTAGGCCTACTTGCATCACTGTCCTTGGCCTGTTCTTGGTCATGTTCACCCACTGGCCAGTACTGACAGGTCTGAGTCTTGGGAAGTAGGCAGCCCGTCTGTTGCCACCTCCATCTCCCCTGAGCTCAGGGACAACTCTGCAGCCACCTTTTCATCCACTGTCAAATCTCAGATTCCCGTGTTTGTGGCCCCTGCTCTATGTTCCTCTCCAGATTCTGTGTTCTCTGCCCTTTCCCAGTGGCTGTATGCGAAAAATGAGCTGTTCACCTTACACATAGCTACTTTCGTGTCTCCAGATTTGTGAGTTTATCAAGGCATGTTCTCCCTCCTCTCTGTTTTCAGTTAGAACCTTTTCAAGCCAGTAGTCCAGAAATGCCAGTTCCAACTCTCTCATGTTTCTGTGACCAGCTCCCCACTCCCCAGGTTTCCCTCTCTTCCAGGCATTAGGAAGAGAAGGCGTGCCTGCCCCTCCTGTGATCCCATCTCAGAGGCCAGGCTGGCCCCTCCT
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Task1_train_825
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Gene ST3GAL3 (ST3 beta-galactoside alpha-2,3-sialyltransferase 3) on Chromosome 1 is altered by this variant. Does this mutation result in a disease or is it benign?
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Pathogenic; Intellectual disability, autosomal recessive 12
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TCACTTTATGTTTTCTTTTCTTTCTTCTCTTTCTTTCTTCTTCTTCTTTTTTTTTTGTTTTTTTTTTTTTTGAGACAGGGTCTTGCTCTGTCACCCAGGCTGGAGTACAGTGGCACGCTCACAACTCACTGCAGCCTCAACCTCCTGGGCTTAAAGGATCCTCCTGCCTCAGCTTCCTGGGTAGCTAGGACCACAGATGCACACTACTAGGCCTGGCTAACTTTTTAATTTTTCTTTTTGTAGAGATAGGATCTCATCATGTTGCCTAGGCTGGCCTCAAACTCCAGGGCTCAAGCAGTTCTCCTGCCTCAGCCTACCAAAGTTCTGGGATTATAGGCGTGAGCCACTGTGCCCAGCCCACCTAACATTTTCTAATTGGTTATTGCTGGTATGGTTTTTAAGAATGTGTTGATTTTTGTAAATTAATCTTATAATCATAATCACCTACTTTATTGAACTTCCTATTCTAATGATTTTTTAGTATATTCTCTTGGCTTTCCTAGGTGGACAATTATCTGTAAATTATAATGTTTTGTCACACCATTATTAATATTTATACATCATTTTTTTCTCTTATGTCATTGTAATTTTGTGGCTGAGATATCTGATTGGGTTTGGTTGAGGGCCTGACCCAGGGCAGTCTTCTTGGCCAATGTTACATTTTACATTTAAGGTGTACCTGCTATGCATCCTTTTACATCAAAGGATGCATAGCAGGTACAGTAGCAGGGTGGGTGAATTCCAGACAGACCTTGAGGATAGAAACAAGGCAGCATTCAATGAATAGAAAGTACAATGACTAGAGCATAGGGCACAAATGAGGTTGAGAGAAGCAAGAGATGGATTGGAGAGTAAATCGAGGCTCAGTCAGAAACCGCTAGGCTGTAAGGAGCAATTACTTTATTCAGAGGAGTTGAGAATTGAATGAAAGCTATGTTAGGCAGAATGGCTCTTTAAAGATATCCACACCGTAATCCCTGGAACCTATGAATTTGTTACTCGACATGGCACAAGGGACTTCACAGATATAATTAAGGTTTTGGGTCTTCAAATAGGGAGATTATCCTGGATTATTAAGGTGGGCCCAATATAATCACATGGGCCCCAAAAAGCAAAGAAGTTTCTCCAGCTGGAAGAGAAGCAAGATATGGCGGAGGGGGAATTTGGAGAGATTCAAAGAGTGAGAGAGCCTGAAGGGGACCACATGGAAAGCATGAAAAGGACTGTAGGCCTGAAGGCTGGCCCCTGGCAGATAACCAGCCGGGAAACGGGGGCCTTGTCCCTACAGCTGCACGAACTGAATTCAGCCAACGGCCTGAGTGAGCATGGAAGTGGATTCTTCTCCAGGGCCTCCAGAAGGGAACACAGCCCTACCAGCACCTTGGTTTTGGCCTTGTGCGACTCTAAGCAAGGATCCAGCTGAGCCTCACCATATCCAGATTTTGGCCTTCAGAACTCTGAGATAATTTTGTGTTGTTTTAAACTGCTAAGTTTGTGACACTTTGCCACAGCAGCAGTAGAGAACGAATGCAAAGGGGTTTAAGCAGGGATATTGTCAGATTTTGTGTTATTAAAAGACTTCTTGTGCCATGTGGAAATGGATTTGGAGAATGTAAATTTGAAGGCAGGGAAACGTGTTTGTGGGAATGCTGTGATAACACAATCTAGGGTAGTGATCATGGGAAGGGGCTATGATTTGAAAAATATCTGGGAGGCTGGAATTGCCAGAACTAGTCAGGGACTGGATGTCGGCGGCTGGGGTGGGGAAGCAAAGATGATTGCTGCTTTCTAGCTTAGGCGCTGGCTGATGATGAAGCTGTTTTTTGAGATGGGGATGAGCAGGTTAGAAGATGCCATGATATGAAAGTGATAACTCTAAGTTATTCTTCATTTGGAAATTCTCTCTATAGATACTTTAAGAGAGAATATATCAATAAGATGAGTGCTTTGTCTTTTAAGAACTAAACTTTTTCTTTTCTAGGTCATTTAGGAAATCGTAAATCATGTGAAGATGGGACTCTTGGTATTTGTGCGCAATCTGCTGCTAGCCCTCTGCCTCTTTCTGGTACTGGGATTTTTGTATTATTCTGCGTGGAAGCTACACTTACTCCAGTGGGAGGAGGACTCCAGTAAGTATAGTCACTCTAGCTCACCCCAGGAGAAGCCTGTTGCAGGTCAGTTACTGGTTTTTCGTGTGGCTGCGTCTCATATTCTTCAGAGATGGGCAATGAGAGTAAACTGAACATTTCTGGGACTTTGGCCTAGAAATTGCCTGCCATTTTAGCTGGTATAGGCTGAGAACTTTGATGTTTTTTAAAAACTGCATGCCATGACAAATCTCAGTTCCTTTTACAAACTTGGTGAGAATGTGCTATTCTTCAATAAAAACCCAAACTATACTCATACTTCTAGTTCTTGAACGCTTTTGTTCTTTCTAATTGCTGTAGCATATTGCCACTCTATTTTGCCATTTATTGCCTTAGGGATTAGTATTGAAGTTGGTTTCCATCTGCCCTTAAAACATTCATCTTTATGTTGAATTTTCAACATAATATTGTCTCTGTTTTGTTTTCCCTAAAGAAACGTTGTCTACTGAATCTTTGTAGCCGTTGCTGCTATTGAACTTGCACCTGGCTACAATAATGGCTTATTTTCCCTACCCAGTAACTCCTAATTTTTTTCTTCTCTTTGTGCACTTTGTCTCATGTGTTACATAGTGTTTTCCACATAGCCTGAATCCCACTGGTTTGGTTTCTGTTTACCTGATGTGGCCTGTGTTTTGGTTCTAGGCTTGCAGTTGAAGGGCTTACATTGATCAGCACCAGCCTTTGCACATTGTTTTCTTGGCTGTAGCTTGAAATATCACACAGTGACCATAGTGGTTTTCTTTTTGGTTATTTTGTCTGACTGTTATCTGAGCTTGGTGTGGGAAATAGTATAAAATCAGAACAGAGTGGCCTGTTTTGACCTGCAGTGATATGTCTTCTCTTAAAATAGTTTTATTTTTACTAACATCTACCAGATACCAGTATAGAACTCACTTGAGAAGAGAGTCAGTCTCTAGGTACAAGGTGAAAGTGAGCTGCAGTGAGTGGGAAGAAGCAACGGGCAATTGGCCTGCTGTTGTTCTAAGACCCTAACATGGGAAGTATTACAGTGAAGTAGCTCATTTATTTCTCCCATGGCTCAAACTACTGAGGCAGTTTCAAGCCAGTTTTTAAAATATAGTGTTATATCCTTAATTTACTGTTTTATATAGAATATTTAAGTGCCTTTTAAATGCTTAGCTTATAATTATCACTAATTACTTGTGTTTCAAAAGTTTACTTAAATTTCTCTGCACTGACTTATTTTTAAAACCAAGGAGACTACCCAGGATAAGGAGTGTTTGTATCAGTGAAATGCAGAATTCTGTATTTAGAGGCATTCATTGTCTGTATTGGTAGTGGTGGATCCATCTCTATCAATAATTTAGATGGAAATGTGTGTGAAGAACAAGGGTCTCCTTTTCCGCTAAGGGCTGCTGACCTGTAGAAGATATAACCAAGGATCAGATAAGATTTTCCTAGATCAGTAGGGAAGGGAATTAACTTTATGGAAGACTCATTGTGTTTCAGGCATTAGGCTAGACAATTTACAAATATAATTTCATTTAATGTAATTCTTACTGCAGTTTTGTGAAGATGCCATTATTATCCCCATTTTCCAGTTGAGCAAACTGAAACACTTTAATTTACCAAGGTTATATTGTTGGAACTGGAATTCAATTCCTGTCTTTAAAACCTATGTTCATTATTTTATTGAAAAATATAATAAATACTGAAGGCAGAACTTAATTTAATATTCTACCTGGTAAAAAGAGAGAGAGAAAGGGGCTCAGAGAAGTAATAGTAGAGAGTGTCAGGAAGGGGGTGTGAAAAGAAAAGGAGGGAAAGAGAGAAAGTTATCAAAAGAAGACAGAGAGGCTTATTAGGTTTGAAGGTGACAAGCTGCTATTCACTTGGGCCGTAGGCTTCAGAAGTTTATTGCTAGTTATCTGCTGTCCTTTCCATTAATTGTTAGCTGACTAACCAGTATTTATAGCTTTTCTATTCTG
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TCACTTTATGTTTTCTTTTCTTTCTTCTCTTTCTTTCTTCTTCTTCTTTTTTTTTTGTTTTTTTTTTTTTTGAGACAGGGTCTTGCTCTGTCACCCAGGCTGGAGTACAGTGGCACGCTCACAACTCACTGCAGCCTCAACCTCCTGGGCTTAAAGGATCCTCCTGCCTCAGCTTCCTGGGTAGCTAGGACCACAGATGCACACTACTAGGCCTGGCTAACTTTTTAATTTTTCTTTTTGTAGAGATAGGATCTCATCATGTTGCCTAGGCTGGCCTCAAACTCCAGGGCTCAAGCAGTTCTCCTGCCTCAGCCTACCAAAGTTCTGGGATTATAGGCGTGAGCCACTGTGCCCAGCCCACCTAACATTTTCTAATTGGTTATTGCTGGTATGGTTTTTAAGAATGTGTTGATTTTTGTAAATTAATCTTATAATCATAATCACCTACTTTATTGAACTTCCTATTCTAATGATTTTTTAGTATATTCTCTTGGCTTTCCTAGGTGGACAATTATCTGTAAATTATAATGTTTTGTCACACCATTATTAATATTTATACATCATTTTTTTCTCTTATGTCATTGTAATTTTGTGGCTGAGATATCTGATTGGGTTTGGTTGAGGGCCTGACCCAGGGCAGTCTTCTTGGCCAATGTTACATTTTACATTTAAGGTGTACCTGCTATGCATCCTTTTACATCAAAGGATGCATAGCAGGTACAGTAGCAGGGTGGGTGAATTCCAGACAGACCTTGAGGATAGAAACAAGGCAGCATTCAATGAATAGAAAGTACAATGACTAGAGCATAGGGCACAAATGAGGTTGAGAGAAGCAAGAGATGGATTGGAGAGTAAATCGAGGCTCAGTCAGAAACCGCTAGGCTGTAAGGAGCAATTACTTTATTCAGAGGAGTTGAGAATTGAATGAAAGCTATGTTAGGCAGAATGGCTCTTTAAAGATATCCACACCGTAATCCCTGGAACCTATGAATTTGTTACTCGACATGGCACAAGGGACTTCACAGATATAATTAAGGTTTTGGGTCTTCAAATAGGGAGATTATCCTGGATTATTAAGGTGGGCCCAATATAATCACATGGGCCCCAAAAAGCAAAGAAGTTTCTCCAGCTGGAAGAGAAGCAAGATATGGCGGAGGGGGAATTTGGAGAGATTCAAAGAGTGAGAGAGCCTGAAGGGGACCACATGGAAAGCATGAAAAGGACTGTAGGCCTGAAGGCTGGCCCCTGGCAGATAACCAGCCGGGAAACGGGGGCCTTGTCCCTACAGCTGCACGAACTGAATTCAGCCAACGGCCTGAGTGAGCATGGAAGTGGATTCTTCTCCAGGGCCTCCAGAAGGGAACACAGCCCTACCAGCACCTTGGTTTTGGCCTTGTGCGACTCTAAGCAAGGATCCAGCTGAGCCTCACCATATCCAGATTTTGGCCTTCAGAACTCTGAGATAATTTTGTGTTGTTTTAAACTGCTAAGTTTGTGACACTTTGCCACAGCAGCAGTAGAGAACGAATGCAAAGGGGTTTAAGCAGGGATATTGTCAGATTTTGTGTTATTAAAAGACTTCTTGTGCCATGTGGAAATGGATTTGGAGAATGTAAATTTGAAGGCAGGGAAACGTGTTTGTGGGAATGCTGTGATAACACAATCTAGGGTAGTGATCATGGGAAGGGGCTATGATTTGAAAAATATCTGGGAGGCTGGAATTGCCAGAACTAGTCAGGGACTGGATGTCGGCGGCTGGGGTGGGGAAGCAAAGATGATTGCTGCTTTCTAGCTTAGGCGCTGGCTGATGATGAAGCTGTTTTTTGAGATGGGGATGAGCAGGTTAGAAGATGCCATGATATGAAAGTGATAACTCTAAGTTATTCTTCATTTGGAAATTCTCTCTATAGATACTTTAAGAGAGAATATATCAATAAGATGAGTGCTTTGTCTTTTAAGAACTAAACTTTTTCTTTTCTAGGTCATTTAGGAAATCGTAAATCATGTGAAGATGGGACTCTTGGTATTTGTGCGCAATCTGCTGCTAGACCTCTGCCTCTTTCTGGTACTGGGATTTTTGTATTATTCTGCGTGGAAGCTACACTTACTCCAGTGGGAGGAGGACTCCAGTAAGTATAGTCACTCTAGCTCACCCCAGGAGAAGCCTGTTGCAGGTCAGTTACTGGTTTTTCGTGTGGCTGCGTCTCATATTCTTCAGAGATGGGCAATGAGAGTAAACTGAACATTTCTGGGACTTTGGCCTAGAAATTGCCTGCCATTTTAGCTGGTATAGGCTGAGAACTTTGATGTTTTTTAAAAACTGCATGCCATGACAAATCTCAGTTCCTTTTACAAACTTGGTGAGAATGTGCTATTCTTCAATAAAAACCCAAACTATACTCATACTTCTAGTTCTTGAACGCTTTTGTTCTTTCTAATTGCTGTAGCATATTGCCACTCTATTTTGCCATTTATTGCCTTAGGGATTAGTATTGAAGTTGGTTTCCATCTGCCCTTAAAACATTCATCTTTATGTTGAATTTTCAACATAATATTGTCTCTGTTTTGTTTTCCCTAAAGAAACGTTGTCTACTGAATCTTTGTAGCCGTTGCTGCTATTGAACTTGCACCTGGCTACAATAATGGCTTATTTTCCCTACCCAGTAACTCCTAATTTTTTTCTTCTCTTTGTGCACTTTGTCTCATGTGTTACATAGTGTTTTCCACATAGCCTGAATCCCACTGGTTTGGTTTCTGTTTACCTGATGTGGCCTGTGTTTTGGTTCTAGGCTTGCAGTTGAAGGGCTTACATTGATCAGCACCAGCCTTTGCACATTGTTTTCTTGGCTGTAGCTTGAAATATCACACAGTGACCATAGTGGTTTTCTTTTTGGTTATTTTGTCTGACTGTTATCTGAGCTTGGTGTGGGAAATAGTATAAAATCAGAACAGAGTGGCCTGTTTTGACCTGCAGTGATATGTCTTCTCTTAAAATAGTTTTATTTTTACTAACATCTACCAGATACCAGTATAGAACTCACTTGAGAAGAGAGTCAGTCTCTAGGTACAAGGTGAAAGTGAGCTGCAGTGAGTGGGAAGAAGCAACGGGCAATTGGCCTGCTGTTGTTCTAAGACCCTAACATGGGAAGTATTACAGTGAAGTAGCTCATTTATTTCTCCCATGGCTCAAACTACTGAGGCAGTTTCAAGCCAGTTTTTAAAATATAGTGTTATATCCTTAATTTACTGTTTTATATAGAATATTTAAGTGCCTTTTAAATGCTTAGCTTATAATTATCACTAATTACTTGTGTTTCAAAAGTTTACTTAAATTTCTCTGCACTGACTTATTTTTAAAACCAAGGAGACTACCCAGGATAAGGAGTGTTTGTATCAGTGAAATGCAGAATTCTGTATTTAGAGGCATTCATTGTCTGTATTGGTAGTGGTGGATCCATCTCTATCAATAATTTAGATGGAAATGTGTGTGAAGAACAAGGGTCTCCTTTTCCGCTAAGGGCTGCTGACCTGTAGAAGATATAACCAAGGATCAGATAAGATTTTCCTAGATCAGTAGGGAAGGGAATTAACTTTATGGAAGACTCATTGTGTTTCAGGCATTAGGCTAGACAATTTACAAATATAATTTCATTTAATGTAATTCTTACTGCAGTTTTGTGAAGATGCCATTATTATCCCCATTTTCCAGTTGAGCAAACTGAAACACTTTAATTTACCAAGGTTATATTGTTGGAACTGGAATTCAATTCCTGTCTTTAAAACCTATGTTCATTATTTTATTGAAAAATATAATAAATACTGAAGGCAGAACTTAATTTAATATTCTACCTGGTAAAAAGAGAGAGAGAAAGGGGCTCAGAGAAGTAATAGTAGAGAGTGTCAGGAAGGGGGTGTGAAAAGAAAAGGAGGGAAAGAGAGAAAGTTATCAAAAGAAGACAGAGAGGCTTATTAGGTTTGAAGGTGACAAGCTGCTATTCACTTGGGCCGTAGGCTTCAGAAGTTTATTGCTAGTTATCTGCTGTCCTTTCCATTAATTGTTAGCTGACTAACCAGTATTTATAGCTTTTCTATTCTG
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Task1_train_826
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The gene ST3GAL3 (ST3 beta-galactoside alpha-2,3-sialyltransferase 3) is located on Chromosome 1, where a mutation has occurred. What is the medical relevance of this mutation?
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Pathogenic; Developmental and epileptic encephalopathy, 15
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TGGAGCCTTCCCATCCAGGAATATGATTTTGTCTTTCCTATTTTTTAAGTCATCTCTTTATATCAGTAAAAGGTTATAGTTTTCCTCCTATAGTTCTCACATATTTCTTATGTTTATTGCTCAATACTTGACTTTTTTGTTACGATTGCAAATAAGATCTTTTTGTTATATCTGATGACTGTTTCCTATTGCTGCAGTAAATTATTTTATCCATTCTAAGTTTAGTTGATTCTTTTAGGTTTTCTTTCTTTTCTTTCCTTTCTTTGTTTCTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACAGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGTGCAATGTCGGCTCACTGCAACCTCCACCTCCCAGGTTCAAGCAATTCTCCTGCCTCAGCCTCCCAAGTAGCTGAGATTACAGGCAACTGACACCATGCCTGGCTAATTTTTTGTATTTTTAGTAGAGATGGAGTTTTGCCATGTTGGCCAGGCTGGTCTTGAACTCCTAACCTCAGGTGATCCACCCGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACTGCGCCTGGCTGATTCTTTTAGGTTTTCTATGCAAATAACAGTTCGGTTGGAGCCCGTGGTTTGGCAGTGCCGCCAGTCTGCAGGGTTGGTTTGTGACCTCCAGCAGTGCTCAGGAGCCCAGCTGTAAAGGTAGAAAAAGAGGATGTATGGGTTGATCCCAAGTTCGGGATTTCCCTAGACTAGGGCAATAGAAGGACAAGGGGCAGAGTACTGGAGGAGCTCACAAGAGAGTAGCTGATGTAATATACTTCAGGGTCTAGACAAGGAGGGGTGGACGCACTGAACAGTAAGGGCTGGGGAGCTAAAGGCCTCTGTGTTGTGGAGAGGGAGGAAGAGAGAGACTTGAAAGGAGGGGAAGCTGTGCCCCAGAATGGACACTGGGATGTCGGATTTCAGAGGTGATGCCTTTCTAGTACAGTGCAGAGACCCTCCGGTAAGAATGATCCCGTTTTATGGTTAAAGAAACAGGCTTGGAGAGCTTGTTGCCCAGTCACCCAACTCTAGTCAACAGCAGTGTTGGTCTGCTATACTCTACTTGCTCACGCTCTGTCTCCATTTTTCAGGTCCACTCTAGAACAGTCGATGGAGAGAGCCAGGAGAGAGCAGCAAGGGAAGTGGGAGCACAGGAGGGCAGACAGGAGAGAGGGCAGGCACCTCCCAGCCCCTCAGCTGCTGCAGATAGGGAGGCAGGGCAGCTGCACTGCTGGGTCTTCTTATTGGCCCAGGAGCCCCCTCAGGCCACAGCAGCACACCCACAGCATCCCACATCCTGTGCCTGCCCGACGACTCCCTTCGTATCCTCCTCTGTTACACACTGGAGCCCCACCACACGCTCTCTTCACCATCATTCCCCTTGTCCCTGTCACACACTCCATTTCCCCAAACACAGATGGGCTTCCTACACCACAGGCCCTGGGTTCCCCATTAAACGCCTCATGCTCCCGCCTCACTGTCCCTACTTGGGGTCCCTGCCACTCCCCTAGGCTCATCCCTTGCTGTGTGCCTCGTTGAGGCCCGCTTTTGCTGTGTCCACAGAGTGCATCGGATGGCTTCTGGAAATCTGTGGCCACTCGAGTGCCCAAGGAGCCCCCTGAGATTCGAATCCTCAACCCATATTTCATCCAGGAGGCCGCCTTCACCCTCATTGGCCTGCCCTTCAACAATGGCCTCATGGGCCGGGGGGTGAGATATCTGGGCCCTGGGAGAGGGAGGAGGAAAGCTGGGTCAGAAGTGCCTTGGAAGGAAGGGTGGGTGGTGGGTGGGGCAGTGCTTCTGCAAAATAGCTTTCTGGGGAAGAGGGCTCAGTCCTTGGGCATGGAGGCTAGCTCTAGGGAGCTTGGCTGAAGTCTCAGCTGTCCCAGCCCTCCAGCTGAACTCTGCATGCCTTCTCTCACCCCTGCCCCCGTCTTCTAGAACATCCCTACCCTTGGCAGTGTGGCAGTGACCATGGCACTACACGGCTGTGACGAGGTGGCAGTCGCAGGATTTGGCTATGACATGAGCACACCCAACGCACCCCTGCACTACTATGAGACCGTTCGCATGGCAGCCATCAAAGAGGTTCGGGGCTGGGTATGGGGGCAATCCCTGGGTGGGGATGAGGGGGAGGTGCATAAATGAGTAGTAAAGGGAGGAGCCAGTGGCTGGTCTGGCTGCCCAGAACTCCCCAGAAGGTCCTGACACCAAGCATCCTACGTGCCCTCTCCACAGCCTCCCACTGAACCCAGGGCCTTCTCCCTGAACTTTCCTTCCAAGGGACTCTCCGTGCCCTGGTCCTGCACCTCCCTCCCCCTCGCTGCATTCCCCAGTCAGGAACACTAGTCTAGCACCAGCTCAGCCATCCTCTCTACTGCAGTTCCTGCCTTCCCCCAGAGGACGCTATTTTCCCTCAAAAAACCCACAACTGAACACTGCCTCTGGGTCTCAGGACTTCTCCATATCTCTTCCACCCTTCCCCACAGCCAAGCACTGCAGCTCTTCATACCCCGAATTGCTTCCCAAACATCCGTATGTAGGGTACATTACAGGTCTCCAGCCTGTCAGCCAGCCTTTTCTGGCATTTCTCCCTCCCTAGCCAAGACCCCATGTGGAAAATCTGAACCCTTCTGAACTCCGCTTGCCACACTTCTGCTTTGACCACCAGCCTTCCACTGATCCCAGCCTGAAACCTGGAAATCTTGGGCCAGTTCTTCAACAGCTTCTCTGCTGCTACATCTGGGTGATGGGAGGTTGTTGGAGGGAACCTCCCATCTGTGCAGATTCCTGTTTCTGTAAGTCTGGGGGCTCTGGTCTCAGCCCTCATTCCTGCTTATCAGTCTTCTTATCTATCCTTCTCCATCATCCCCCTCCACTATTCCAGAGCCTTCCATGCCCCAAAAGCTCCTCCCTCTTCCAGTGAAGAAACTGAAGCCACAGAGGGGACTCTGATCTGTCGGGCTCTGCACTGTACTCCCACTTGGCCCTTCACCCCTTGCAGCCTGGCTCCCCTCACACCTGACCCAGCTCCCATCAAGGTCACCACCTCAAGGTGGCCAATTCCAGTGGACACAACGTCATCTTTCCTGATCTCTCAGAAACACTTTTCGTGTTGGCCACTCCTTCTTCTTTGAACTTCTGAGTCAGTAATTTCCAACATTCCTCTTATTTCACTCACCATTCTCTCACATTCTCTTTCTCAGCATCATCAATTCTGATCTACGCCTTAAAATTCATCATAGCTGGGCACAGTGGCTCATGCCTATAATCCCAGCACTTTGGGAGGCCAAGGCAGGGGTATTGCTTGAGCCCAGGAGTTTGAGAGCAGCCTGGGCAACATGGTGAAACCCCATCTCTACTAAAAATAGGAAAAATTGGCTGGGCGCGGTGGCTCACGCAGGTAATCCCAGCACTTTAGGAGGCCAAGGTGGGCGGATCCCCCGAGGTCAGGAGTTCAAGACCAGCCTGGCCAATATGGGGAAACCCTGTCTCTACTAAAAATACAAAAATTAGCCAGGCGTGGTGGTGGGCACCTGTGATCCCATCAACTCAGGAGGCTGAGGCAGAAGAATCACTTGAACCCAGGAGGCAGAGGTTGCAGTGAGCCAAGATCACACCACTGCACTCCAGCCTGGGCAACAAAATGAGACTCCGTCTCAAAAAAGAAAAATAGGAGGCAGGGCATGGTGGCTCACGCCTGTAATCCCCGCACTTTGGGAGGCCGAGGCGGGTGGATCACCTAAGGTCAGGAGTTTGAGACCAGCCTGGCCAATAGGTGAAGCCCTGTCTGTACTAAAAATACAAAAATTAGCCGGACATGGTGGTGGACAACTGTAGTCCCAGCTACTCGGGAGACTGAGACAGGAGAATTGCTTGAACCTGGGAGGTGGAGGTTGCAGTGAGCCGAGATCATGCCACTGCACTCCAGCCTGGGCGACAGAGCAAGACTGTCTCAAAAAAGAAAAAAAAAAAAAAAGGCCAGGCATGGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGTGGGTGGATCACAAGGTCAGAAGA
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TGGAGCCTTCCCATCCAGGAATATGATTTTGTCTTTCCTATTTTTTAAGTCATCTCTTTATATCAGTAAAAGGTTATAGTTTTCCTCCTATAGTTCTCACATATTTCTTATGTTTATTGCTCAATACTTGACTTTTTTGTTACGATTGCAAATAAGATCTTTTTGTTATATCTGATGACTGTTTCCTATTGCTGCAGTAAATTATTTTATCCATTCTAAGTTTAGTTGATTCTTTTAGGTTTTCTTTCTTTTCTTTCCTTTCTTTGTTTCTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACAGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGTGCAATGTCGGCTCACTGCAACCTCCACCTCCCAGGTTCAAGCAATTCTCCTGCCTCAGCCTCCCAAGTAGCTGAGATTACAGGCAACTGACACCATGCCTGGCTAATTTTTTGTATTTTTAGTAGAGATGGAGTTTTGCCATGTTGGCCAGGCTGGTCTTGAACTCCTAACCTCAGGTGATCCACCCGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACTGCGCCTGGCTGATTCTTTTAGGTTTTCTATGCAAATAACAGTTCGGTTGGAGCCCGTGGTTTGGCAGTGCCGCCAGTCTGCAGGGTTGGTTTGTGACCTCCAGCAGTGCTCAGGAGCCCAGCTGTAAAGGTAGAAAAAGAGGATGTATGGGTTGATCCCAAGTTCGGGATTTCCCTAGACTAGGGCAATAGAAGGACAAGGGGCAGAGTACTGGAGGAGCTCACAAGAGAGTAGCTGATGTAATATACTTCAGGGTCTAGACAAGGAGGGGTGGACGCACTGAACAGTAAGGGCTGGGGAGCTAAAGGCCTCTGTGTTGTGGAGAGGGAGGAAGAGAGAGACTTGAAAGGAGGGGAAGCTGTGCCCCAGAATGGACACTGGGATGTCGGATTTCAGAGGTGATGCCTTTCTAGTACAGTGCAGAGACCCTCCGGTAAGAATGATCCCGTTTTATGGTTAAAGAAACAGGCTTGGAGAGCTTGTTGCCCAGTCACCCAACTCTAGTCAACAGCAGTGTTGGTCTGCTATACTCTACTTGCTCACGCTCTGTCTCCATTTTTCAGGTCCACTCTAGAACAGTCGATGGAGAGAGCCAGGAGAGAGCAGCAAGGGAAGTGGGAGCACAGGAGGGCAGACAGGAGAGAGGGCAGGCACCTCCCAGCCCCTCAGCTGCTGCAGATAGGGAGGCAGGGCAGCTGCACTGCTGGGTCTTCTTATTGGCCCAGGAGCCCCCTCAGGCCACAGCAGCACACCCACAGCATCCCACATCCTGTGCCTGCCCGACGACTCCCTTCGTATCCTCCTCTGTTACACACTGGAGCCCCACCACACGCTCTCTTCACCATCATTCCCCTTGTCCCTGTCACACACTCCATTTCCCCAAACACAGATGGGCTTCCTACACCACAGGCCCTGGGTTCCCCATTAAACGCCTCATGCTCCCGCCTCACTGTCCCTACTTGGGGTCCCTGCCACTCCCCTAGGCTCATCCCTTGCTGTGTGCCTCGTTGAGGCCCGCTTTTGCTGTGTCCACAGAGTGCATCGGATGGCTTCTGGAAATCTGTGGCCACTCGAGTGCCCAAGGAGCCCCCTGAGATTCGAATCCTCAACCCATATTTCATCCAGGAGGCCGCCTTCACCCTCATTGGCCTGCCCTTCAACAATGGCCTCATGGGCCGGGGGGTGAGATATCTGGGCCCTGGGAGAGGGAGGAGGAAAGCTGGGTCAGAAGTGCCTTGGAAGGAAGGGTGGGTGGTGGGTGGGGCAGTGCTTCTGCAAAATAGCTTTCTGGGGAAGAGGGCTCAGTCCTTGGGCATGGAGGCTAGCTCTAGGGAGCTTGGCTGAAGTCTCAGCTGTCCCAGCCCTCCAGCTGAACTCTGCATGCCTTCTCTCACCCCTGCCCCCGTCTTCTAGAACATCCCTACCCTTGGCAGTGTGGCAGTGACCATGGCACTACACGGCTGTGACGAGGTGGCAGTCCCAGGATTTGGCTATGACATGAGCACACCCAACGCACCCCTGCACTACTATGAGACCGTTCGCATGGCAGCCATCAAAGAGGTTCGGGGCTGGGTATGGGGGCAATCCCTGGGTGGGGATGAGGGGGAGGTGCATAAATGAGTAGTAAAGGGAGGAGCCAGTGGCTGGTCTGGCTGCCCAGAACTCCCCAGAAGGTCCTGACACCAAGCATCCTACGTGCCCTCTCCACAGCCTCCCACTGAACCCAGGGCCTTCTCCCTGAACTTTCCTTCCAAGGGACTCTCCGTGCCCTGGTCCTGCACCTCCCTCCCCCTCGCTGCATTCCCCAGTCAGGAACACTAGTCTAGCACCAGCTCAGCCATCCTCTCTACTGCAGTTCCTGCCTTCCCCCAGAGGACGCTATTTTCCCTCAAAAAACCCACAACTGAACACTGCCTCTGGGTCTCAGGACTTCTCCATATCTCTTCCACCCTTCCCCACAGCCAAGCACTGCAGCTCTTCATACCCCGAATTGCTTCCCAAACATCCGTATGTAGGGTACATTACAGGTCTCCAGCCTGTCAGCCAGCCTTTTCTGGCATTTCTCCCTCCCTAGCCAAGACCCCATGTGGAAAATCTGAACCCTTCTGAACTCCGCTTGCCACACTTCTGCTTTGACCACCAGCCTTCCACTGATCCCAGCCTGAAACCTGGAAATCTTGGGCCAGTTCTTCAACAGCTTCTCTGCTGCTACATCTGGGTGATGGGAGGTTGTTGGAGGGAACCTCCCATCTGTGCAGATTCCTGTTTCTGTAAGTCTGGGGGCTCTGGTCTCAGCCCTCATTCCTGCTTATCAGTCTTCTTATCTATCCTTCTCCATCATCCCCCTCCACTATTCCAGAGCCTTCCATGCCCCAAAAGCTCCTCCCTCTTCCAGTGAAGAAACTGAAGCCACAGAGGGGACTCTGATCTGTCGGGCTCTGCACTGTACTCCCACTTGGCCCTTCACCCCTTGCAGCCTGGCTCCCCTCACACCTGACCCAGCTCCCATCAAGGTCACCACCTCAAGGTGGCCAATTCCAGTGGACACAACGTCATCTTTCCTGATCTCTCAGAAACACTTTTCGTGTTGGCCACTCCTTCTTCTTTGAACTTCTGAGTCAGTAATTTCCAACATTCCTCTTATTTCACTCACCATTCTCTCACATTCTCTTTCTCAGCATCATCAATTCTGATCTACGCCTTAAAATTCATCATAGCTGGGCACAGTGGCTCATGCCTATAATCCCAGCACTTTGGGAGGCCAAGGCAGGGGTATTGCTTGAGCCCAGGAGTTTGAGAGCAGCCTGGGCAACATGGTGAAACCCCATCTCTACTAAAAATAGGAAAAATTGGCTGGGCGCGGTGGCTCACGCAGGTAATCCCAGCACTTTAGGAGGCCAAGGTGGGCGGATCCCCCGAGGTCAGGAGTTCAAGACCAGCCTGGCCAATATGGGGAAACCCTGTCTCTACTAAAAATACAAAAATTAGCCAGGCGTGGTGGTGGGCACCTGTGATCCCATCAACTCAGGAGGCTGAGGCAGAAGAATCACTTGAACCCAGGAGGCAGAGGTTGCAGTGAGCCAAGATCACACCACTGCACTCCAGCCTGGGCAACAAAATGAGACTCCGTCTCAAAAAAGAAAAATAGGAGGCAGGGCATGGTGGCTCACGCCTGTAATCCCCGCACTTTGGGAGGCCGAGGCGGGTGGATCACCTAAGGTCAGGAGTTTGAGACCAGCCTGGCCAATAGGTGAAGCCCTGTCTGTACTAAAAATACAAAAATTAGCCGGACATGGTGGTGGACAACTGTAGTCCCAGCTACTCGGGAGACTGAGACAGGAGAATTGCTTGAACCTGGGAGGTGGAGGTTGCAGTGAGCCGAGATCATGCCACTGCACTCCAGCCTGGGCGACAGAGCAAGACTGTCTCAAAAAAGAAAAAAAAAAAAAAAGGCCAGGCATGGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGTGGGTGGATCACAAGGTCAGAAGA
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Task1_train_827
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Assess the clinical impact of this variant on gene ST3GAL3 (ST3 beta-galactoside alpha-2,3-sialyltransferase 3), found on Chromosome 1. State whether it’s pathogenic or benign, and the disease if applicable.
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Pathogenic; Intellectual disability, autosomal recessive 12
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TTTATTTATTATTTTTCAAAAGATGGGGTTTCTATATGTTGCCCAGGTGGACTAAGCTCAAGTGATCCTCCTGCCTCAGCCTCCCAAGTAGTTGGGACTACAGGCACAGGGCACTGCATCCAGCTCACTTCTCAGCACCACTAAATAGTGGCTGTTAACAGTTATTGGCCGGGCACGATGGCTCACACCTGTAATCCCAACACTTTGGGAGGCTGAGGCTGGTGGATCACAAGGTCAGGAGATAGAGACCATCCTGGCCAACATGGTGAAACCCCATCTCTACTACAAATACAAAAAATTAGCCAGGTGTGGTGGCAGGCACCTGTAGTTCCAGCTACTCAGATGACTGAGGCAGGAGAATCCCTTGAACCCGGGGGGCGGAGGTTGCAGTGAGCCAAGATCGTGCCACTGCACTCCAGCCTGGGCAACAGAGCAAGACACCATCTGAAAAAAAAAACAAAAACATTTATGGTGGTCCGGGCACGGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCTGAGGCAGGTGGATCACCTGAGGTCAGGAGTTCAAAACCAGCCTGACCAACATGGTGAAACCCCCATCTCTACTAAAAATACAAAATTAGCTGGGTGTGGTGGTGCACTCCTGTAGTCCCAGCTACTCAGGTGGCTGAGGCAGGAGAATCGCTTGAACCTGGGAGGCAGAGGTTGCAGTGAGCTGAGATCACACCACTGCACACCAGCCTGGGCAACAAGAGCGAAACTCTGTCTCAAAAATAAATAAATAGATAAAAAATAAACAGTTATGGTGAAGCTCAATGCTGACAAACGCAACAGAGAGGTCACTTGGGGACAAACTCTGATAAGGCTGCTGTCATTCAGCCCTTCATTCATTAAATCAAGCCTTTTTCATCAAAGTTTTCTGGTGAGAGTCCTGGGGTTAGGAAAGGACCCTATCCCAGGTACAGTCTTCCCCAGAAGCCTCTTCTAGTAATTTTGAAATATATGACATTATTATTAACTATAGTCAAATGTGCTCACCATAAAAAATTGGTAAGTAGGTGAGGTTGGCTTGATTTAATTATTCCACAATGTATACATCTATCAAAACATCACATTCTACCCCAAAAATATGTACAATTCTTTCAATTAAAAAATTAGTTTTAATTATTATTTTTTTTTTTTGAGACAGAATCTCTCTCTGTTGCCCAGGCTGGAGTGCAGTGGCGCGATCTCGGCTCACTGCAACCTCTGCCTCCCGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTATAGGCGCTACCATCACACCCAGCTAATTTTTGTATTTTTAGTAGAAACAGGGTTTCACCATGTTGGTCAGGCTGGTTTGAACTCCTGACCTCGTGATCCACCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCTGGCCTATTTTTAATTTTCTAAAAAAGATTTGCCATCTCTCCGCAGGCCCCATAGCTCCTCTGATCTGGGAGGCAGGATTTCATCCGCCGCCCCCAGGCCTGGAGAGTAGATTGCATCAGGCCAGGGAGTGACTCAGCCACCCCTTGCTGTTGGACTTCAGTGACTCACACTGCCTGCCCGCAGGGTGTCTATAACCTAGGTGCTTCATGACAAGAAGTGGCTTGAAGTCTGTGGGAACAAGGTCCTTCCGCCAGCACTGAGGAGGGAGGTTGGGAAGCTTAACGGTTTTCCTGGGACGAGGAAAGGGGTATGAAGGTTCTTTTTTCCCTGTCTTGGGAAGGGAGGAGGATGAGCTGTGGCACTCCTAGAGCAGGGTCATCATTACCGTGTAGACACAACTGATTACCAGTATCTGCCTTCAGGTTTCCACAGTCACGGAGTATTGGAGAGTGGTGACGAAGAAGGCACCGAGCCCTGGAAGGGGCAGTAAAGGTTTGAGCAAAGGCCCAACTGATCACTTCATCTCTCCTTTCAGTCCTGGACGCACAATATCCAGCGAGAGAAAGAGTTTCTGCGGAAGCTGGTGAAAGCTCGCGTCATCACTGATCTAAGCAGTGGCATCTGAGTGGGCCCAGCACATGGCCATAGAGGCCCAGGCACCACCAGGAGCAGCAGCCAGCACCACCTACACAGGAGTCTTCAGACCCAGAGAAGGACGGTGCCAAGGGCCCCAGGGGCAGCAAGGCCTTGGTGGAGCAGCCAGAGCTGTGCCTGCTCAGCAGCCAGTCTCAGAGACCAGCACTCAGCCTCATTCAGCATGGGTCCTTGATGCCAGAGGGCCAGCAGGCTCCTGGCTGTGCCCAGCAGGCCCAGCATGCAGGTGGTGGGACACTGGGCAGCAAGGCTGCTGCCGGAATCACTTCTCCAATCAGTGTTTGGTGTATTATCATTTTGTGAATTTGGGTAGGGGGGAGGGTAGGGATAATTTATTTTTAAATAAGGTTGGAGATGTCAAGTTGGGTTCACTTGCCATGCAGGAAGAGGCCCACTAGAGGGCCCATCAGGCAGTGTTACCTGTTAGCTCCCTGTGGGGCAGGAGTGCCAGGACCAGCCTGTACCTTGCTGTGGGGCTACAGGATGGTGGGCAGGATCTCAAGCCAGCCCCCTCCAGCTCATGACACTGTTTGGCCTTTCTTGGGGAGAAGGCGGGGTATTCCCACTCACCAGCCCTAGCTGTCCCATGGGGAAACCCTGGAGCCATCCCTTCGGAGCCAACAAGACCGCCCCAGGGCTATAGCAGAAAGAACTTTAAAGCTCAGGAGGGTGACGCCCAGCTCCGCCTGCTGGGAAGAGCTCCCCTCCACAGCTGCAGCTGATCCATAGGACTACCGCAGGCCCGGACTCACCAACTTGCCACATGTTCTAGGTTTCAGCAACAAGACTGCCAGGTGGTTGGGTTCTGCCTTTAGCCTGGACCAAAGGGAAGTGAGGCCCAAGGAGCTTACCCAAGCTGTGGCAGCCGTCCCAGGCCACCCCCATGGAAGCAATAAAGCTCTTCCCTGAGCCTGGCCTCTTTTTGCCTTCTCTGACTTTCCTGGAAGAAACAGGAACCTAAAGCCTTAGCAACTATGCCAAACCCTCGGGCCCTCTCTCCAGTCCACAGAGTCCTGGGTCCCTTTCACTTCTTGTGTCAATGCAGGACCTAGGTAGCCATCCAGAGGCCTCTGGAGCATCTCCTGTATCCTCTTTGCTTTGAGACCAGAGGTTTCAGGGCACACTCTTAGAGGAGACAGAGGCACAGGACTGGAGCCCTAGGACATTGCCTTGGGGTGCCACAGCCCCACCTCTGGAAGGACAGATATTCCTGCAAGCACAGGAAAGATATACTGCTGAGCCCCTGCAGCAAGCAGAGGCTCACAGACCTACCCTACTACTGACACTCCCGTCCCTCTGGGAAGGACATGCCCCAGCCCCAATCATTAGCACAGAGGCACACCCTCTCCCTTCAGCCCTGCTCTAGGTATCCTCTGTCATACTTTAGAAAAGATATCACGTCGCCTTCTTAAGAGTCCTAGAGTCTGATCCCTCTCTTCCCCAGCATCCCCAGGCAGGCCTGAGAATGGACAGACCAGACTGTCGCCTGCACTTGAGGCCATGAAGTGAGCTTTCTGTCACACACTGCCACTGTGGCAGGCAGTAAGTGGGGTGGCCGGCTCCTGCTCCTCTCTCCTGCCCACCCCAATCCAAGACTCCAGGCAGCCCTGGGCTGCCCTCCCACTGGTGAGCCCTAAGGCTGGAGTCCCGGCCATCCCAGGGACCAGCAGCCTCCCACATGCTCCTTCCCACTGTGGCCGGCCTTAGGCAGAAGCCTCCTGGGCTAGGGGGGTAAGGGAGGCCCTGACTGAGGGACAGGTCAACCCAGAAACCCCCTCCATTTCTACCGGAAATAAGGCCACTACCATGCACATGTTCCTGCCTGGATGGTGCCCCGTGGAGTTGTACAGGGCATAGGCTGAATGGCCATAAGTGGTGTCCCTGGCTGAAAAAGCCCCAAGGCAGGTGCCCCAACTGAGCAGCCGGTTGTGGGAGGTGACAGAGCAGACTGCTCCCTGCTTGGCCTCCTATCCCAGGGGGCTCCTGGCACGCCTGCAG
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TTTATTTATTATTTTTCAAAAGATGGGGTTTCTATATGTTGCCCAGGTGGACTAAGCTCAAGTGATCCTCCTGCCTCAGCCTCCCAAGTAGTTGGGACTACAGGCACAGGGCACTGCATCCAGCTCACTTCTCAGCACCACTAAATAGTGGCTGTTAACAGTTATTGGCCGGGCACGATGGCTCACACCTGTAATCCCAACACTTTGGGAGGCTGAGGCTGGTGGATCACAAGGTCAGGAGATAGAGACCATCCTGGCCAACATGGTGAAACCCCATCTCTACTACAAATACAAAAAATTAGCCAGGTGTGGTGGCAGGCACCTGTAGTTCCAGCTACTCAGATGACTGAGGCAGGAGAATCCCTTGAACCCGGGGGGCGGAGGTTGCAGTGAGCCAAGATCGTGCCACTGCACTCCAGCCTGGGCAACAGAGCAAGACACCATCTGAAAAAAAAAACAAAAACATTTATGGTGGTCCGGGCACGGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCTGAGGCAGGTGGATCACCTGAGGTCAGGAGTTCAAAACCAGCCTGACCAACATGGTGAAACCCCCATCTCTACTAAAAATACAAAATTAGCTGGGTGTGGTGGTGCACTCCTGTAGTCCCAGCTACTCAGGTGGCTGAGGCAGGAGAATCGCTTGAACCTGGGAGGCAGAGGTTGCAGTGAGCTGAGATCACACCACTGCACACCAGCCTGGGCAACAAGAGCGAAACTCTGTCTCAAAAATAAATAAATAGATAAAAAATAAACAGTTATGGTGAAGCTCAATGCTGACAAACGCAACAGAGAGGTCACTTGGGGACAAACTCTGATAAGGCTGCTGTCATTCAGCCCTTCATTCATTAAATCAAGCCTTTTTCATCAAAGTTTTCTGGTGAGAGTCCTGGGGTTAGGAAAGGACCCTATCCCAGGTACAGTCTTCCCCAGAAGCCTCTTCTAGTAATTTTGAAATATATGACATTATTATTAACTATAGTCAAATGTGCTCACCATAAAAAATTGGTAAGTAGGTGAGGTTGGCTTGATTTAATTATTCCACAATGTATACATCTATCAAAACATCACATTCTACCCCAAAAATATGTACAATTCTTTCAATTAAAAAATTAGTTTTAATTATTATTTTTTTTTTTTGAGACAGAATCTCTCTCTGTTGCCCAGGCTGGAGTGCAGTGGCGCGATCTCGGCTCACTGCAACCTCTGCCTCCCGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTATAGGCGCTACCATCACACCCAGCTAATTTTTGTATTTTTAGTAGAAACAGGGTTTCACCATGTTGGTCAGGCTGGTTTGAACTCCTGACCTCGTGATCCACCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCTGGCCTATTTTTAATTTTCTAAAAAAGATTTGCCATCTCTCCGCAGGCCCCATAGCTCCTCTGATCTGGGAGGCAGGATTTCATCCGCCGCCCCCAGGCCTGGAGAGTAGATTGCATCAGGCCAGGGAGTGACTCAGCCACCCCTTGCTGTTGGACTTCAGTGACTCACACTGCCTGCCCGCAGGGTGTCTATAACCTAGGTGCTTCATGACAAGAAGTGGCTTGAAGTCTGTGGGAACAAGGTCCTTCCGCCAGCACTGAGGAGGGAGGTTGGGAAGCTTAACGGTTTTCCTGGGACGAGGAAAGGGGTATGAAGGTTCTTTTTTCCCTGTCTTGGGAAGGGAGGAGGATGAGCTGTGGCACTCCTAGAGCAGGGTCATCATTACCGTGTAGACACAACTGATTACCAGTATCTGCCTTCAGGTTTCCACAGTCACGGAGTATTGGAGAGTGGTGACGAAGAAGGCACCGAGCCCTGGAAGGGGCAGTAAAGGTTTGAGCAAAGGCCCAACTGATCACTTCATCTCTCCTTTCAGTCCTGGACGCACAATATCCAGCGAGAGAAAGAGTTTCTGCGGAAGCTGGTGAAAGCTCGCGTCATCACTTATCTAAGCAGTGGCATCTGAGTGGGCCCAGCACATGGCCATAGAGGCCCAGGCACCACCAGGAGCAGCAGCCAGCACCACCTACACAGGAGTCTTCAGACCCAGAGAAGGACGGTGCCAAGGGCCCCAGGGGCAGCAAGGCCTTGGTGGAGCAGCCAGAGCTGTGCCTGCTCAGCAGCCAGTCTCAGAGACCAGCACTCAGCCTCATTCAGCATGGGTCCTTGATGCCAGAGGGCCAGCAGGCTCCTGGCTGTGCCCAGCAGGCCCAGCATGCAGGTGGTGGGACACTGGGCAGCAAGGCTGCTGCCGGAATCACTTCTCCAATCAGTGTTTGGTGTATTATCATTTTGTGAATTTGGGTAGGGGGGAGGGTAGGGATAATTTATTTTTAAATAAGGTTGGAGATGTCAAGTTGGGTTCACTTGCCATGCAGGAAGAGGCCCACTAGAGGGCCCATCAGGCAGTGTTACCTGTTAGCTCCCTGTGGGGCAGGAGTGCCAGGACCAGCCTGTACCTTGCTGTGGGGCTACAGGATGGTGGGCAGGATCTCAAGCCAGCCCCCTCCAGCTCATGACACTGTTTGGCCTTTCTTGGGGAGAAGGCGGGGTATTCCCACTCACCAGCCCTAGCTGTCCCATGGGGAAACCCTGGAGCCATCCCTTCGGAGCCAACAAGACCGCCCCAGGGCTATAGCAGAAAGAACTTTAAAGCTCAGGAGGGTGACGCCCAGCTCCGCCTGCTGGGAAGAGCTCCCCTCCACAGCTGCAGCTGATCCATAGGACTACCGCAGGCCCGGACTCACCAACTTGCCACATGTTCTAGGTTTCAGCAACAAGACTGCCAGGTGGTTGGGTTCTGCCTTTAGCCTGGACCAAAGGGAAGTGAGGCCCAAGGAGCTTACCCAAGCTGTGGCAGCCGTCCCAGGCCACCCCCATGGAAGCAATAAAGCTCTTCCCTGAGCCTGGCCTCTTTTTGCCTTCTCTGACTTTCCTGGAAGAAACAGGAACCTAAAGCCTTAGCAACTATGCCAAACCCTCGGGCCCTCTCTCCAGTCCACAGAGTCCTGGGTCCCTTTCACTTCTTGTGTCAATGCAGGACCTAGGTAGCCATCCAGAGGCCTCTGGAGCATCTCCTGTATCCTCTTTGCTTTGAGACCAGAGGTTTCAGGGCACACTCTTAGAGGAGACAGAGGCACAGGACTGGAGCCCTAGGACATTGCCTTGGGGTGCCACAGCCCCACCTCTGGAAGGACAGATATTCCTGCAAGCACAGGAAAGATATACTGCTGAGCCCCTGCAGCAAGCAGAGGCTCACAGACCTACCCTACTACTGACACTCCCGTCCCTCTGGGAAGGACATGCCCCAGCCCCAATCATTAGCACAGAGGCACACCCTCTCCCTTCAGCCCTGCTCTAGGTATCCTCTGTCATACTTTAGAAAAGATATCACGTCGCCTTCTTAAGAGTCCTAGAGTCTGATCCCTCTCTTCCCCAGCATCCCCAGGCAGGCCTGAGAATGGACAGACCAGACTGTCGCCTGCACTTGAGGCCATGAAGTGAGCTTTCTGTCACACACTGCCACTGTGGCAGGCAGTAAGTGGGGTGGCCGGCTCCTGCTCCTCTCTCCTGCCCACCCCAATCCAAGACTCCAGGCAGCCCTGGGCTGCCCTCCCACTGGTGAGCCCTAAGGCTGGAGTCCCGGCCATCCCAGGGACCAGCAGCCTCCCACATGCTCCTTCCCACTGTGGCCGGCCTTAGGCAGAAGCCTCCTGGGCTAGGGGGGTAAGGGAGGCCCTGACTGAGGGACAGGTCAACCCAGAAACCCCCTCCATTTCTACCGGAAATAAGGCCACTACCATGCACATGTTCCTGCCTGGATGGTGCCCCGTGGAGTTGTACAGGGCATAGGCTGAATGGCCATAAGTGGTGTCCCTGGCTGAAAAAGCCCCAAGGCAGGTGCCCCAACTGAGCAGCCGGTTGTGGGAGGTGACAGAGCAGACTGCTCCCTGCTTGGCCTCCTATCCCAGGGGGCTCCTGGCACGCCTGCAG
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Task1_train_828
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This genomic variant is located on Chromosome 1, within the SLC6A9 (solute carrier family 6 member 9) gene. Can you determine its pathogenicity and name any linked disease?
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Pathogenic; Atypical glycine encephalopathy
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CCCAGAAGGCATGGCACTCTGGGGTGGTGGTGCCTGCCCTCCCCTGCCTCCCACCACTGAGACTTCCGTTCCTCCTGTTTCAAAGCTGGGCCAGTGGCCAGAGCGGGGAGCCTGTGCCAGGCTCGGGAACATCCCACAACCTACCGGGTAGAGGCCTCAGCCCTCCACGGGCCTTTATTCAGAAACATGAGCCACAGGGGAAGTCTGGTGCTGAGCCCCCTGTGCCACCGAGGCATTAAACATGACAAGAGTGTGGCTCTGAACACTGGCCGGGCCACTGGGCCAGCCCTCTGACTATCACTCAGAGGTGGCCTTGCCTGTCCTCTGTGGAGTGACCATTACACTGTCAATACCTGCCTTCCCCGAATCCCACCCCAAACAGGAAGGAGCCAAGTCATACGGTTTTGGCCCCTGGACCATTCCTCCCTCCTGCAGAGGTGTTTCTAGTGTGGCGCTGGCCCAGGCTTGGAATTGGACAACCTGATTTGAATTGTGGCTCTGCCTCTTATTAGCTGTGTGACCATGGGCCAATTACTTAACATCCCCATGCCTCAGTTTCCTCATCTGTAAAGTGGGGACAACAATGACACCTTGGAGAGCTCTATCACGGGTTACATGGGAATGGTGTGTGGAAAGTGCCTGCTTCCTTGCCATGGTGGATTCCTTCCACCAATTCAGCTCCCTGATGGGAATTTCTCAGCTGTTGAATATTCATAAAACCTGGAACTCCCCTTCCCAAGCCACCCACCTCACTGCCTGGAAGGCTTGCAAAGTTGCCCCCATGCAGAGCTGACCTCTGACTCCACAGTCTGGTCTACCAGCCTTGGGCTGCTGCTGGAACACTGGTTCCCACCACATAGCCAAGGCCCTGGAACACCCTCCCTGGAGGGATGGGAGATAAGGCCAGCAGGCAGAGGCTGACACGCTATCGATATTGACTCCTGAGTCCCCGGGGGTGCCAGGCAGGAATGCCTGAGCAACGTCTGCAGTCAAATAAAGGCTGTGGCACTCCCCTCCTAACCTGAGGCCAGGGCCCAGGCAGCTCTGAGTCGCCACACGCCTCTCTGACTCTCTCCAACCTCCCTCAGCCTCCCAAAGGCCAGAGTCATGGGTATGGAGCTCCGGCCAGGTGCGGGAGCTCCCACTGTCCCTCCGCTGGGTCCCAAGAGATGGACACATGGCCAAGGGGCAGCGGGGGAAGGGAGGGGCCGGCCAGGGAACTCACGAAGATGATGGCGGGAGAGACGAAGCGCCAGCAGATCTGAAAGAAGAGGGGTGGTGGGAATCCCAGCATCATCTGGATGTCCTGGAAGTAGTTCCGGTGCCCTGGAGAGATGGGGGGTCAGCAGACCCGCAGGACAGAGTGGGCGGGCCAAGGGCCGGGTCGCGGGAGGCCGGAGGCTCGAGTGCTCACCGTAGATGTACATGATGGCCACACACATGATGCAGGAGATGACCACCAAGGAGAAGCTGGCCGCATAGTTGTCCATCAGCAGCAGCCAATAGATGCCTGCCTGGGGAACAGCGGGCAGCTGTGGGAGGCGCCTGCAGCCCGGGCTCCCCAACCCTTCCCTGCACGTCCTGGCAACTCTGGGCCAGCCCTTCCCTTACGCAGCTCTTACCTGGCTGGTGAGGGGGATGCCCAGCAGGAAGCCAGCCACAGCCACGCCCAAGGTCACATAGGTCTTTTTCTGCAGGATCCACTCATTCCCCACCTCATCCACAATGGCTGTGACCAGCGTCTCCAGGAGGCAGAACTGCAGGATGTGGCTGTCAGATCGGAGACCTGCCCCTTGTTCCTGTCCCCTCCCTTCCCCAAGCCTCCGGTCCACGTCCTGCACCTCGTACCTGAGTGCCCAGCCCCAGCAGGATAAGCATGAAGAAGAAGAGCAGAGACCACAGCGGGGAGATGGGAAGTAGTGTGAGGGCCTCGGGGTAAGCCACGAAGGCCAGGCCAGGGCCGTGGTCTGCCACACGGGACACATCCACGCCCAGGTGATTGGCCATGAAGCCGAGGATGGAGAAGATGACGAAGCCAGCATAGACGCTGGTGGCACAGTTGGTGATGCTGATGATGACACTGTCCCTGATGGGGAGGAAAACAGAGTTCAGCTTCCCTCTCCCCAATTTGGGCCAAGAGGAGACATGGAGACACGGAAAGTTCTAGGTACAAAGGCACCCCCAACTCTTTTTTTTTGGAGTGGGAGACAGGGTCTCACTCTGTTGTCCAGGATGGAGTGCAATGGCGCTATCACAGCTAACTGTAGCCTTGACCTCTTGGTCTCAAGCAATCCTCCCACCTCAGCCTCCTAAGTAGCTGGGACTACAGGTGTGTGCCACCACACCCAGCTAATTTTCTTTTTTATGTTTTATAAAGAAAGATGGGGTCTCACTATGCTGCCCAGGCTTGTCTTGAATTCCTGGGCTCAAGTGATCCTCCCGCCTTGGCCTCTCAAAGTGCTGGGATTACGGCGTGAAGCACTGAGCCTGGCCCCCAACTCCTTTTCTGGTCTGTTCTGGGCATTTTTAAGGAGCCTGAGCTGCCTGAGTCCTCACAGACCCCTGGGACATCACTGTCCCTATCTCTCTTCTCTCTCCTGCCTAAACCTCTCTCCTCATTCTCCAACAACTTTATCCAGAACCAGTATTCCCAGAACCTCAAGATCATGAGGGGAAAGGAGGCCTCGTGGGCCCATGGCTGCACTGGAGCTGAGATCAGGCTGCAGAGAGTGCAGGAAGGGGGCAGCCTCAGCCCAGCAGGGAGCACTCACCGGTAACAGTTATTGTGGAACTTGTTGTAGGAAGCCATGGTGATGAGGCCTCCCCACGCGCAGCCCAGTGAGTAGAAGATCTGGGAGGCAGCATCACCCCACACCTGCAGGGAAGGACCGGTGGGTGAGGAGCTGTGGGCAGAGGCAGGCACCTCCCTGGCCCCTCCCCAGCCCCCTTCCGGTTTCCCTCACTTCCCACCTTGGCCTCCAGGATCTTGTCCCACTGCGGGGTTAGGTAGTACATGATGCCGTCAAAGGCTCCCTCCAGGGTCACTCCGCGGACAAACAGAATGGTCAGCACCACGTAGGGGAACGTGGCCGTGAAGTACACCACCTGGCACAAGAGGGCTCCATGGACTCTTCTGGGCTCTCCCCTCCCCTGGGCACCACCACCCTGGCTCCCTAATCACCACCAGCCCCCTGGTCCCTCTCCGGCTCCGGAGTCCCTTCAGCATCCCCTCCCTGCAATACACACATAACCCAGGTAGGGGGCAGGGTCTTTCTGGGTGGGCACAGACCCTGCTGGGGAGGGGTACTTGCTTTCCCTGAAGACTTGACCCCTCGGATGAGGCAGAGGAAGACGACCAACCAGGAGACACCGAGGCAGCCAAGGAGGGGCAGCCGCACCTCCCCAAAGTTCCCAATGTCATCTGACAGCTTCAGCACGTACAGCCTGGGAAGGGGAGACTCTGTCACTGAGGGCCAGCCGCCGCTGCCCAGCAACAAATTCCCAAGGCCCAGGGCCCACCCGGGCTGTACCCTCCTTTGTCATGAGGTCCCAGCAGCCACCTTGTGTGACATGGGAGCTACTTCAGGGGCCCAGCCCTGGCCGGCCCAGTCCCCTCCACCTGCTGCAGCCCCTGGGGAGCCCAACACAGTCCACTGCTCTGCAGCCTTTCCCAGGCCCTTCAAGGGCTCCTGGAGGCCACACCCCAGGCTTGGGTGGTCTTCCTAGTTCCTGGGCGAGGAGATCTCCTTGTCCCCAGTTGGGCTCAGCCCAGGTCCTTGTTTGCACACTTCTCCCTTCAGGAATGCCTTTTCCTCATTCTGTCAGGTGTCACCTCCTCCAGGAAGCCACCAGTGAGCATTTCACGTGCACCAATTAGCTCTATCTCTGATAAATTGAGGGAAGCAGTGGAATGCTCAGTAAAGATTGGACCCTGGCTGGGTGTGGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCCGTGGTGGGTGGATCACCTGAAGTCAGGAGTTCAAGACCAGCCTGGCCAATATGGTGAAACCCCGTCTCTACAAAAATTAGCCGGCCATGATGGCGGGTGCCTGTAATCCCAGCTA
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CCCAGAAGGCATGGCACTCTGGGGTGGTGGTGCCTGCCCTCCCCTGCCTCCCACCACTGAGACTTCCGTTCCTCCTGTTTCAAAGCTGGGCCAGTGGCCAGAGCGGGGAGCCTGTGCCAGGCTCGGGAACATCCCACAACCTACCGGGTAGAGGCCTCAGCCCTCCACGGGCCTTTATTCAGAAACATGAGCCACAGGGGAAGTCTGGTGCTGAGCCCCCTGTGCCACCGAGGCATTAAACATGACAAGAGTGTGGCTCTGAACACTGGCCGGGCCACTGGGCCAGCCCTCTGACTATCACTCAGAGGTGGCCTTGCCTGTCCTCTGTGGAGTGACCATTACACTGTCAATACCTGCCTTCCCCGAATCCCACCCCAAACAGGAAGGAGCCAAGTCATACGGTTTTGGCCCCTGGACCATTCCTCCCTCCTGCAGAGGTGTTTCTAGTGTGGCGCTGGCCCAGGCTTGGAATTGGACAACCTGATTTGAATTGTGGCTCTGCCTCTTATTAGCTGTGTGACCATGGGCCAATTACTTAACATCCCCATGCCTCAGTTTCCTCATCTGTAAAGTGGGGACAACAATGACACCTTGGAGAGCTCTATCACGGGTTACATGGGAATGGTGTGTGGAAAGTGCCTGCTTCCTTGCCATGGTGGATTCCTTCCACCAATTCAGCTCCCTGATGGGAATTTCTCAGCTGTTGAATATTCATAAAACCTGGAACTCCCCTTCCCAAGCCACCCACCTCACTGCCTGGAAGGCTTGCAAAGTTGCCCCCATGCAGAGCTGACCTCTGACTCCACAGTCTGGTCTACCAGCCTTGGGCTGCTGCTGGAACACTGGTTCCCACCACATAGCCAAGGCCCTGGAACACCCTCCCTGGAGGGATGGGAGATAAGGCCAGCAGGCAGAGGCTGACACGCTATCGATATTGACTCCTGAGTCCCCGGGGGTGCCAGGCAGGAATGCCTGAGCAACGTCTGCAGTCAAATAAAGGCTGTGGCACTCCCCTCCTAACCTGAGGCCAGGGCCCAGGCAGCTCTGAGTCGCCACACGCCTCTCTGACTCTCTCCAACCTCCCTCAGCCTCCCAAAGGCCAGAGTCATGGGTATGGAGCTCCGGCCAGGTGCGGGAGCTCCCACTGTCCCTCCGCTGGGTCCCAAGAGATGGACACATGGCCAAGGGGCAGCGGGGGAAGGGAGGGGCCGGCCAGGGAACTCACGAAGATGATGGCGGGAGAGACGAAGCGCCAGCAGATCTGAAAGAAGAGGGGTGGTGGGAATCCCAGCATCATCTGGATGTCCTGGAAGTAGTTCCGGTGCCCTGGAGAGATGGGGGGTCAGCAGACCCGCAGGACAGAGTGGGCGGGCCAAGGGCCGGGTCGCGGGAGGCCGGAGGCTCGAGTGCTCACCGTAGATGTACATGATGGCCACACACATGATGCAGGAGATGACCACCAAGGAGAAGCTGGCCGCATAGTTGTCCATCAGCAGCAGCCAATAGATGCCTGCCTGGGGAACAGCGGGCAGCTGTGGGAGGCGCCTGCAGCCCGGGCTCCCCAACCCTTCCCTGCACGTCCTGGCAACTCTGGGCCAGCCCTTCCCTTACGCAGCTCTTACCTGGCTGGTGAGGGGGATGCCCAGCAGGAAGCCAGCCACAGCCACGCCCAAGGTCACATAGGTCTTTTTCTGCAGGATCCACTCATTCCCCACCTCATCCACAATGGCTGTGACCAGCGTCTCCAGGAGGCAGAACTGCAGGATGTGGCTGTCAGATCGGAGACCTGCCCCTTGTTCCTGTCCCCTCCCTTCCCCAAGCCTCCGGTCCACGTCCTGCACCTCGTACCTGAGTGCCCAGCCCCAGCAGGATAAGCATGAAGAAGAAGAGCAGAGACCACAGCGGGGAGATGGGAAGTAGTGTGAGGGCCTCGGGGTAAGCCACGAAGGCCAGGCCAGGGCCGTGGTCTGCCACACGGGACACATCCACGCCCAGGTGATTGGCCATGAAGCCGAGGATGGAGAAGATGACGAAGCCAGCATAGACGCCGGTGGCACAGTTGGTGATGCTGATGATGACACTGTCCCTGATGGGGAGGAAAACAGAGTTCAGCTTCCCTCTCCCCAATTTGGGCCAAGAGGAGACATGGAGACACGGAAAGTTCTAGGTACAAAGGCACCCCCAACTCTTTTTTTTTGGAGTGGGAGACAGGGTCTCACTCTGTTGTCCAGGATGGAGTGCAATGGCGCTATCACAGCTAACTGTAGCCTTGACCTCTTGGTCTCAAGCAATCCTCCCACCTCAGCCTCCTAAGTAGCTGGGACTACAGGTGTGTGCCACCACACCCAGCTAATTTTCTTTTTTATGTTTTATAAAGAAAGATGGGGTCTCACTATGCTGCCCAGGCTTGTCTTGAATTCCTGGGCTCAAGTGATCCTCCCGCCTTGGCCTCTCAAAGTGCTGGGATTACGGCGTGAAGCACTGAGCCTGGCCCCCAACTCCTTTTCTGGTCTGTTCTGGGCATTTTTAAGGAGCCTGAGCTGCCTGAGTCCTCACAGACCCCTGGGACATCACTGTCCCTATCTCTCTTCTCTCTCCTGCCTAAACCTCTCTCCTCATTCTCCAACAACTTTATCCAGAACCAGTATTCCCAGAACCTCAAGATCATGAGGGGAAAGGAGGCCTCGTGGGCCCATGGCTGCACTGGAGCTGAGATCAGGCTGCAGAGAGTGCAGGAAGGGGGCAGCCTCAGCCCAGCAGGGAGCACTCACCGGTAACAGTTATTGTGGAACTTGTTGTAGGAAGCCATGGTGATGAGGCCTCCCCACGCGCAGCCCAGTGAGTAGAAGATCTGGGAGGCAGCATCACCCCACACCTGCAGGGAAGGACCGGTGGGTGAGGAGCTGTGGGCAGAGGCAGGCACCTCCCTGGCCCCTCCCCAGCCCCCTTCCGGTTTCCCTCACTTCCCACCTTGGCCTCCAGGATCTTGTCCCACTGCGGGGTTAGGTAGTACATGATGCCGTCAAAGGCTCCCTCCAGGGTCACTCCGCGGACAAACAGAATGGTCAGCACCACGTAGGGGAACGTGGCCGTGAAGTACACCACCTGGCACAAGAGGGCTCCATGGACTCTTCTGGGCTCTCCCCTCCCCTGGGCACCACCACCCTGGCTCCCTAATCACCACCAGCCCCCTGGTCCCTCTCCGGCTCCGGAGTCCCTTCAGCATCCCCTCCCTGCAATACACACATAACCCAGGTAGGGGGCAGGGTCTTTCTGGGTGGGCACAGACCCTGCTGGGGAGGGGTACTTGCTTTCCCTGAAGACTTGACCCCTCGGATGAGGCAGAGGAAGACGACCAACCAGGAGACACCGAGGCAGCCAAGGAGGGGCAGCCGCACCTCCCCAAAGTTCCCAATGTCATCTGACAGCTTCAGCACGTACAGCCTGGGAAGGGGAGACTCTGTCACTGAGGGCCAGCCGCCGCTGCCCAGCAACAAATTCCCAAGGCCCAGGGCCCACCCGGGCTGTACCCTCCTTTGTCATGAGGTCCCAGCAGCCACCTTGTGTGACATGGGAGCTACTTCAGGGGCCCAGCCCTGGCCGGCCCAGTCCCCTCCACCTGCTGCAGCCCCTGGGGAGCCCAACACAGTCCACTGCTCTGCAGCCTTTCCCAGGCCCTTCAAGGGCTCCTGGAGGCCACACCCCAGGCTTGGGTGGTCTTCCTAGTTCCTGGGCGAGGAGATCTCCTTGTCCCCAGTTGGGCTCAGCCCAGGTCCTTGTTTGCACACTTCTCCCTTCAGGAATGCCTTTTCCTCATTCTGTCAGGTGTCACCTCCTCCAGGAAGCCACCAGTGAGCATTTCACGTGCACCAATTAGCTCTATCTCTGATAAATTGAGGGAAGCAGTGGAATGCTCAGTAAAGATTGGACCCTGGCTGGGTGTGGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCCGTGGTGGGTGGATCACCTGAAGTCAGGAGTTCAAGACCAGCCTGGCCAATATGGTGAAACCCCGTCTCTACAAAAATTAGCCGGCCATGATGGCGGGTGCCTGTAATCCCAGCTA
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Task1_train_829
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This variant affects the gene RNF220 (ring finger protein 220) found on Chromosome 1. What is the clinical effect of this variant — benign or pathogenic? State the disease if applicable.
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Pathogenic; Leukodystrophy, hypomyelinating, 23, with ataxia, deafness, liver dysfunction, and dilated cardiomyopathy
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CTTTTGGTTTGGGTCTTTCTGGGGTTGCTCTGTTTTGGAGTTGGAGTAGCTCCCTGCCTCAGGCTCACAACAGGCAGGAGCTGGAGCCCTAGCACACTCACTGGGACCAGTCTTTGTTGATGCTGCTCAGTTAGGAGGTCCCCTTGAAACAGGAGGGCATTCTAGGTTGTGAAGTCAGTTCTGGTTTCCTATCTTGCCTTTGCCACTTTTTAGCTACTTGGACACGTACCTTGATCTCTCTAAGCTTTGGGTTTCTTCATCTGTTAAAATGGGATAATGCAATCTAGCTTCAGCAAGTGGTAGTAAATGAGCTACCTTGGGTAAGGTACTTGGCTGTGAGCCTGACACACGGTAGAAGCTTAAATTGTAACATAGCAGCTCTCACCTGTGTTCCCCTCCTAGATTGCATTCATGAGCTTCCCGTTAGGGTCACTGTCCATGAGAAAGTTCTTCCTGGCCCTGCTTTGGGGAACCTTTCCCTCCTTTGCTGGCTCTCCCCACTCCCCATCAGTCTGGTCCCAGAGTAGCCATCTCTGATCCTGCTGTGGCATTCTGGAAGGGACTAGAGGGAAGAGAGTTTCTTGTTTTGACCCCTTCCTGCTTCAGTGACAGGAGGGCTACAGAGAGGGATTAGTGAGCTAATTAGAAATGATTGCATTGCTCAGCATTAATTAGCAGTGTTGTGGGCTTGCAGTGTGCACTTTGGAACTGAGCCCCCTGTGGGACAACATGGCAGGCAGCCCTCTGCCTCCAGGGCCTGCCAGCCCCTCTGTACTGATTAGAAATGATGGAACAGGTTCGGGTGGGCACAATAAGGGCTGCCTTCTCAGGGTTCCCTGAGCCTTCTGACCTGGCTGCCAAAGGTCTGACCCAGACCGTCTTACCTTTATGACTGGGCCTCAGTCTCCTCTTCTGTGAAATGGGATTAGTGGACCTCAGAGAAATTCTTCCTGATAAGATTCTAGGTGGGATGCTAGGAGCTGTACCTCAGGGCTCTTGGCCCAGGAACCAAAGAGGATTTAGCTGATGAGTGAACAGCAGGCCAAGTCAGGCCATCGGAGGGGTTAGGTTCTAGTCAAGAGATGCTCTTTAGAGTTGTATTTCCTGACACCAAAAGAGTTCATGGTCTTGGCCTTCTGGAGAGATACCTAGCAACATGGAGTGTCTTTGCTCACTGGATTTTTATTAAACACTGCAAATAGAAAGGTATGGGTAGACCTTGCACCAGCTGCAGCCAAAGAGTGGACTTACTCACTGGCTTAGTTAGCACCAGTCTCCTCCCCAGGTGCTCTTGGCAAAGCCCAGTCCCCAAAGGAGCAGGAGGTATTTCAAGATGAGGGCCAGATCAGGCACTGAATAAAAAGGCCAATGGCTGGCAAGAGGTCAGGATGTGTCAGCTCCACTGGGACCCTGGGGGCTGCAGTGACCGTCTGCTTGTTCTGTGCTTTGTTTTCGGTTTCCCCGTGCAGCTCGGATTGGGAAAATGAAACGGAGGAAGCAAGATGAAGGGCAGGTATGTCCCCTGTGCAACCGCCCCCTGGCAGGATCGGAGCAGGAGATGAGTAGGCATGTGGAGCATTGCCTTTCTAAGGTAGAGGGGCCATCACCACCCACCTTCCTTCCCCGCTCCCTTCCCCCGACACTAGCTGCTGACTGCCCCTGAATCTGTGGGCTCTTGGGGTCTCCATGTGGTCTCAGCAGCTTCTTCCCTTCTGACCACTGCTCTCTCCTTTTGCTTTCACTCTCACTCATTCCCTCCTTGGGCTCCAGCGGAAAACTATTGGGAAGAGGCCCAGGTCTTTGACCTCTAAATTGGTTTGCTTCAAAGGAGCCCTAGAGCTGAGGGCCCACTTGGCACACCACAGCTGGGGCTAGAGCTGTGCCTTCGTTGCAGACTGTGGGGAGCAGGTGGGGATGGCCTGGGCCCAGCATGATCCTGCTCTGCTCTTCACAGAGGGAAGGCTCCTGCATGGCTGAGGATGATGCTGTGGACATCGAGCATGAGAACAACAACCGCTTTGAGGAGTATGAGTGGTGTGGACAGAAGCGGATACGGGCCACCACTCTCCTGGAAGGTGGCTTCCGAGGTACAAGCAGCTGACACGTAGACATTGGCACTCTGGTGCCAGGCCTCTGCTGGGTATCCATCTGCTGGAAGCCAAGAGGCCGAGGCTGGTGGCTGGTCATCCATCCGTTCCACCACGTGGGGACTGCTGCTGGTGGGGCTCCTTTGTGACCGTGCTGCCTGCCTGTGATGTGCATATTAAAATGGATGTATTTGGGTGGGGAAATGGAATTGTGAGGCTGCAAGCTAGGAGTGACGAAGGGGGGCTCTCAGCTTCGGGTGATGCATTGAAGGTGACAGCCAAGCCGCGTTAGCACCTGCATAAAATATTAAAGGGACGGTTATGCATTTATCACTCCATCCCTCTTAAGGCTGATAAATGAGAATCCAGCAACCTGCTGTACACCTCCAGCACTGGGGGCCCTGAGGGCTTCCAGGCAAACACATTGGATTTTCCTCCTCCTCCTCTTCAGCCCTATGTCAGGGAAATCAGTTACAGAGGAGAGTGAGTTATGGCAAAATTTGACCTCCCATGAGCTTCATTGGTGAATCTAATTTTAGCTCTGATCCCATCCCTTCTCCCTGGGCGCCCTCTGCCCTGAAGCAAGAGGGGCCTGGGCCCAGCTGCTCCCTCCTTCCCTTGGGCTCTCCCCAGTTGCTACAAAGGAGTGTGCAGGGCCCTGCCCATCTCCAGTGCCCTCCCAGCTCCTTGGAAGAGCAAGGCTTGACACCCCCCACCAGGTCAGACAGCAGAATTGGTTGGGTGCCCAGGGTTAGTGACTTGTTAAACTCCCCAGCCTTGGGCAGGGGAAAAGGGGAGCTGTCTGCCTCTTGGCCTCCAGCTCTTCTCTCTTTCTGTGCACAAGCACAGCTGGTACTGCAGCTTGTGGTCATTAAGTGAGCCAATCTGCTTCCCGTCTGCCTCTCTCTCTGGGCAACACCTTTGGGAATACTGCTGTGTATGGTCCCTGGGGAATCTCACAGCAGCTGGGAAGAAGTTCTCTGCCTTCGTGGGGCCGTGCTACCTGGGCAGATGCTGAGGAGTGGTCTCTGCAGGGCCGTCCAGTGCAGACTGGTTCCACGAAGGGGCTAAGAGCCCAGATGAGACATTATGCCTCTGGGCGTCTCTCACATTACCCAGGTGTTTGGGGGCAAGCCAAAACATAAATCAGGAAGGTTAGTCAGACCAAACAGTCTCCCTGAGCCGGAGCTGGAGAGTGTTAGTTTGCCATTTCACTCATCCCGTACTGGAGCCTTCGAGTATCTGAGGCCCTAGAAGAGTGAGCAGCAGGGCTGACGACTGTCCCATGAGTTGGACACATGGGTGTCCGATGGCAGCCACACAGGGTCAGTTTCAACGTGCTGCTCTGGTTAGCTCTGTTGGCAGCTGCAACTGCTCACATCCTCCATTGCTGTGGCACCTTCTTAGGTTCCTTGGCACAGACCTGGACCTGATGGCTTCTGGGCACCAGACAGGGCTTATGGAGGATAAAGCTGCAAAGGGCCTGCTGATTTGACAAGAGTATTTCCCCTGTGCCGGGATGCACTTGCACAGCAGTGTGAGGGGCTCTTAGGCCCCGGGCGGGTATCCGTTTTCCCTGAGTGTTTACACTGTGAGGTTGTTCCTTTCAAGAATTCCTGAGGGGAGTTCAAAGGGGGCTTTTCTTTGAGCGATTTGGAGAGCGAGAATGAGAGTGAGACTTGAAGAGGGAACAGGGGCCGGAGGTGCCTTTATCTGCAGAGAATTGCTCCAGCTTTCCTGATAGAAGCTGCTGCCGCCTCTTAAACAGCTTAGTGCAGTCAAAAGACAGGCAGACTTGAAAGGCTGTTTTACAGCGAGATCAGCGGGGGCCACGAGGCAGAGAGCGGGGCGCAGTGGAGCGGAGGAGGCTGAGGCTCCTCAGTGGGGGGGCTATCAAAGGGAGGCCCTGGCTGATCCCTACTGCCTCTGCCCCCAAAACCCTGTCTGCAAAAGCTGGCCATCTGTCAGCCTACCCTCCCTGGCCAGGACTGATAGGCCCTAACTCTTGG
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CTTTTGGTTTGGGTCTTTCTGGGGTTGCTCTGTTTTGGAGTTGGAGTAGCTCCCTGCCTCAGGCTCACAACAGGCAGGAGCTGGAGCCCTAGCACACTCACTGGGACCAGTCTTTGTTGATGCTGCTCAGTTAGGAGGTCCCCTTGAAACAGGAGGGCATTCTAGGTTGTGAAGTCAGTTCTGGTTTCCTATCTTGCCTTTGCCACTTTTTAGCTACTTGGACACGTACCTTGATCTCTCTAAGCTTTGGGTTTCTTCATCTGTTAAAATGGGATAATGCAATCTAGCTTCAGCAAGTGGTAGTAAATGAGCTACCTTGGGTAAGGTACTTGGCTGTGAGCCTGACACACGGTAGAAGCTTAAATTGTAACATAGCAGCTCTCACCTGTGTTCCCCTCCTAGATTGCATTCATGAGCTTCCCGTTAGGGTCACTGTCCATGAGAAAGTTCTTCCTGGCCCTGCTTTGGGGAACCTTTCCCTCCTTTGCTGGCTCTCCCCACTCCCCATCAGTCTGGTCCCAGAGTAGCCATCTCTGATCCTGCTGTGGCATTCTGGAAGGGACTAGAGGGAAGAGAGTTTCTTGTTTTGACCCCTTCCTGCTTCAGTGACAGGAGGGCTACAGAGAGGGATTAGTGAGCTAATTAGAAATGATTGCATTGCTCAGCATTAATTAGCAGTGTTGTGGGCTTGCAGTGTGCACTTTGGAACTGAGCCCCCTGTGGGACAACATGGCAGGCAGCCCTCTGCCTCCAGGGCCTGCCAGCCCCTCTGTACTGATTAGAAATGATGGAACAGGTTCGGGTGGGCACAATAAGGGCTGCCTTCTCAGGGTTCCCTGAGCCTTCTGACCTGGCTGCCAAAGGTCTGACCCAGACCGTCTTACCTTTATGACTGGGCCTCAGTCTCCTCTTCTGTGAAATGGGATTAGTGGACCTCAGAGAAATTCTTCCTGATAAGATTCTAGGTGGGATGCTAGGAGCTGTACCTCAGGGCTCTTGGCCCAGGAACCAAAGAGGATTTAGCTGATGAGTGAACAGCAGGCCAAGTCAGGCCATCGGAGGGGTTAGGTTCTAGTCAAGAGATGCTCTTTAGAGTTGTATTTCCTGACACCAAAAGAGTTCATGGTCTTGGCCTTCTGGAGAGATACCTAGCAACATGGAGTGTCTTTGCTCACTGGATTTTTATTAAACACTGCAAATAGAAAGGTATGGGTAGACCTTGCACCAGCTGCAGCCAAAGAGTGGACTTACTCACTGGCTTAGTTAGCACCAGTCTCCTCCCCAGGTGCTCTTGGCAAAGCCCAGTCCCCAAAGGAGCAGGAGGTATTTCAAGATGAGGGCCAGATCAGGCACTGAATAAAAAGGCCAATGGCTGGCAAGAGGTCAGGATGTGTCAGCTCCACTGGGACCCTGGGGGCTGCAGTGACCGTCTGCTTGTTCTGTGCTTTGTTTTCGGTTTCCCCGTGCAGCTCGGATTGGGAAAATGAAACGGAGGAAGCAAGATGAAGGGCAGGTATGTCCCCTGTGCAACCGCCCCCTGGCAGGATCGGAGCAGGAGATGAGTAGGCATGTGGAGCATTGCCTTTCTAAGGTAGAGGGGCCATCACCACCCACCTTCCTTCCCCGCTCCCTTCCCCCGACACTAGCTGCTGACTGCCCCTGAATCTGTGGGCTCTTGGGGTCTCCATGTGGTCTCAGCAGCTTCTTCCCTTCTGACCACTGCTCTCTCCTTTTGCTTTCACTCTCACTCATTCCCTCCTTGGGCTCCAGCGGAAAACTATTGGGAAGAGGCCCAGGTCTTTGACCTCTAAATTGGTTTGCTTCAAAGGAGCCCTAGAGCTGAGGGCCCACTTGGCACACCACAGCTGGGGCTAGAGCTGTGCCTTCGTTGCAGACTGTGGGGAGCAGGTGGGGATGGCCTGGGCCCAGCATGATCCTGCTCTGCTCTTCACAGAGGGAAGGCTCCTGCATGGCTGAGGATGATGCTGTGGACATCGAGCATGAGAACAACAACCGCTTTGAGGAGTATGAGTGGTGTGGACAGAAGCAGATACGGGCCACCACTCTCCTGGAAGGTGGCTTCCGAGGTACAAGCAGCTGACACGTAGACATTGGCACTCTGGTGCCAGGCCTCTGCTGGGTATCCATCTGCTGGAAGCCAAGAGGCCGAGGCTGGTGGCTGGTCATCCATCCGTTCCACCACGTGGGGACTGCTGCTGGTGGGGCTCCTTTGTGACCGTGCTGCCTGCCTGTGATGTGCATATTAAAATGGATGTATTTGGGTGGGGAAATGGAATTGTGAGGCTGCAAGCTAGGAGTGACGAAGGGGGGCTCTCAGCTTCGGGTGATGCATTGAAGGTGACAGCCAAGCCGCGTTAGCACCTGCATAAAATATTAAAGGGACGGTTATGCATTTATCACTCCATCCCTCTTAAGGCTGATAAATGAGAATCCAGCAACCTGCTGTACACCTCCAGCACTGGGGGCCCTGAGGGCTTCCAGGCAAACACATTGGATTTTCCTCCTCCTCCTCTTCAGCCCTATGTCAGGGAAATCAGTTACAGAGGAGAGTGAGTTATGGCAAAATTTGACCTCCCATGAGCTTCATTGGTGAATCTAATTTTAGCTCTGATCCCATCCCTTCTCCCTGGGCGCCCTCTGCCCTGAAGCAAGAGGGGCCTGGGCCCAGCTGCTCCCTCCTTCCCTTGGGCTCTCCCCAGTTGCTACAAAGGAGTGTGCAGGGCCCTGCCCATCTCCAGTGCCCTCCCAGCTCCTTGGAAGAGCAAGGCTTGACACCCCCCACCAGGTCAGACAGCAGAATTGGTTGGGTGCCCAGGGTTAGTGACTTGTTAAACTCCCCAGCCTTGGGCAGGGGAAAAGGGGAGCTGTCTGCCTCTTGGCCTCCAGCTCTTCTCTCTTTCTGTGCACAAGCACAGCTGGTACTGCAGCTTGTGGTCATTAAGTGAGCCAATCTGCTTCCCGTCTGCCTCTCTCTCTGGGCAACACCTTTGGGAATACTGCTGTGTATGGTCCCTGGGGAATCTCACAGCAGCTGGGAAGAAGTTCTCTGCCTTCGTGGGGCCGTGCTACCTGGGCAGATGCTGAGGAGTGGTCTCTGCAGGGCCGTCCAGTGCAGACTGGTTCCACGAAGGGGCTAAGAGCCCAGATGAGACATTATGCCTCTGGGCGTCTCTCACATTACCCAGGTGTTTGGGGGCAAGCCAAAACATAAATCAGGAAGGTTAGTCAGACCAAACAGTCTCCCTGAGCCGGAGCTGGAGAGTGTTAGTTTGCCATTTCACTCATCCCGTACTGGAGCCTTCGAGTATCTGAGGCCCTAGAAGAGTGAGCAGCAGGGCTGACGACTGTCCCATGAGTTGGACACATGGGTGTCCGATGGCAGCCACACAGGGTCAGTTTCAACGTGCTGCTCTGGTTAGCTCTGTTGGCAGCTGCAACTGCTCACATCCTCCATTGCTGTGGCACCTTCTTAGGTTCCTTGGCACAGACCTGGACCTGATGGCTTCTGGGCACCAGACAGGGCTTATGGAGGATAAAGCTGCAAAGGGCCTGCTGATTTGACAAGAGTATTTCCCCTGTGCCGGGATGCACTTGCACAGCAGTGTGAGGGGCTCTTAGGCCCCGGGCGGGTATCCGTTTTCCCTGAGTGTTTACACTGTGAGGTTGTTCCTTTCAAGAATTCCTGAGGGGAGTTCAAAGGGGGCTTTTCTTTGAGCGATTTGGAGAGCGAGAATGAGAGTGAGACTTGAAGAGGGAACAGGGGCCGGAGGTGCCTTTATCTGCAGAGAATTGCTCCAGCTTTCCTGATAGAAGCTGCTGCCGCCTCTTAAACAGCTTAGTGCAGTCAAAAGACAGGCAGACTTGAAAGGCTGTTTTACAGCGAGATCAGCGGGGGCCACGAGGCAGAGAGCGGGGCGCAGTGGAGCGGAGGAGGCTGAGGCTCCTCAGTGGGGGGGCTATCAAAGGGAGGCCCTGGCTGATCCCTACTGCCTCTGCCCCCAAAACCCTGTCTGCAAAAGCTGGCCATCTGTCAGCCTACCCTCCCTGGCCAGGACTGATAGGCCCTAACTCTTGG
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Task1_train_830
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This variant lies on Chromosome 1 and affects the gene RNF220 (ring finger protein 220). Based on this context, is the mutation pathogenic or benign? If pathogenic, what disease does it cause?
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Pathogenic; Leukodystrophy, hypomyelinating, 23, with ataxia, deafness, liver dysfunction, and dilated cardiomyopathy
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GTTTGGGTCTTTCTGGGGTTGCTCTGTTTTGGAGTTGGAGTAGCTCCCTGCCTCAGGCTCACAACAGGCAGGAGCTGGAGCCCTAGCACACTCACTGGGACCAGTCTTTGTTGATGCTGCTCAGTTAGGAGGTCCCCTTGAAACAGGAGGGCATTCTAGGTTGTGAAGTCAGTTCTGGTTTCCTATCTTGCCTTTGCCACTTTTTAGCTACTTGGACACGTACCTTGATCTCTCTAAGCTTTGGGTTTCTTCATCTGTTAAAATGGGATAATGCAATCTAGCTTCAGCAAGTGGTAGTAAATGAGCTACCTTGGGTAAGGTACTTGGCTGTGAGCCTGACACACGGTAGAAGCTTAAATTGTAACATAGCAGCTCTCACCTGTGTTCCCCTCCTAGATTGCATTCATGAGCTTCCCGTTAGGGTCACTGTCCATGAGAAAGTTCTTCCTGGCCCTGCTTTGGGGAACCTTTCCCTCCTTTGCTGGCTCTCCCCACTCCCCATCAGTCTGGTCCCAGAGTAGCCATCTCTGATCCTGCTGTGGCATTCTGGAAGGGACTAGAGGGAAGAGAGTTTCTTGTTTTGACCCCTTCCTGCTTCAGTGACAGGAGGGCTACAGAGAGGGATTAGTGAGCTAATTAGAAATGATTGCATTGCTCAGCATTAATTAGCAGTGTTGTGGGCTTGCAGTGTGCACTTTGGAACTGAGCCCCCTGTGGGACAACATGGCAGGCAGCCCTCTGCCTCCAGGGCCTGCCAGCCCCTCTGTACTGATTAGAAATGATGGAACAGGTTCGGGTGGGCACAATAAGGGCTGCCTTCTCAGGGTTCCCTGAGCCTTCTGACCTGGCTGCCAAAGGTCTGACCCAGACCGTCTTACCTTTATGACTGGGCCTCAGTCTCCTCTTCTGTGAAATGGGATTAGTGGACCTCAGAGAAATTCTTCCTGATAAGATTCTAGGTGGGATGCTAGGAGCTGTACCTCAGGGCTCTTGGCCCAGGAACCAAAGAGGATTTAGCTGATGAGTGAACAGCAGGCCAAGTCAGGCCATCGGAGGGGTTAGGTTCTAGTCAAGAGATGCTCTTTAGAGTTGTATTTCCTGACACCAAAAGAGTTCATGGTCTTGGCCTTCTGGAGAGATACCTAGCAACATGGAGTGTCTTTGCTCACTGGATTTTTATTAAACACTGCAAATAGAAAGGTATGGGTAGACCTTGCACCAGCTGCAGCCAAAGAGTGGACTTACTCACTGGCTTAGTTAGCACCAGTCTCCTCCCCAGGTGCTCTTGGCAAAGCCCAGTCCCCAAAGGAGCAGGAGGTATTTCAAGATGAGGGCCAGATCAGGCACTGAATAAAAAGGCCAATGGCTGGCAAGAGGTCAGGATGTGTCAGCTCCACTGGGACCCTGGGGGCTGCAGTGACCGTCTGCTTGTTCTGTGCTTTGTTTTCGGTTTCCCCGTGCAGCTCGGATTGGGAAAATGAAACGGAGGAAGCAAGATGAAGGGCAGGTATGTCCCCTGTGCAACCGCCCCCTGGCAGGATCGGAGCAGGAGATGAGTAGGCATGTGGAGCATTGCCTTTCTAAGGTAGAGGGGCCATCACCACCCACCTTCCTTCCCCGCTCCCTTCCCCCGACACTAGCTGCTGACTGCCCCTGAATCTGTGGGCTCTTGGGGTCTCCATGTGGTCTCAGCAGCTTCTTCCCTTCTGACCACTGCTCTCTCCTTTTGCTTTCACTCTCACTCATTCCCTCCTTGGGCTCCAGCGGAAAACTATTGGGAAGAGGCCCAGGTCTTTGACCTCTAAATTGGTTTGCTTCAAAGGAGCCCTAGAGCTGAGGGCCCACTTGGCACACCACAGCTGGGGCTAGAGCTGTGCCTTCGTTGCAGACTGTGGGGAGCAGGTGGGGATGGCCTGGGCCCAGCATGATCCTGCTCTGCTCTTCACAGAGGGAAGGCTCCTGCATGGCTGAGGATGATGCTGTGGACATCGAGCATGAGAACAACAACCGCTTTGAGGAGTATGAGTGGTGTGGACAGAAGCGGATACGGGCCACCACTCTCCTGGAAGGTGGCTTCCGAGGTACAAGCAGCTGACACGTAGACATTGGCACTCTGGTGCCAGGCCTCTGCTGGGTATCCATCTGCTGGAAGCCAAGAGGCCGAGGCTGGTGGCTGGTCATCCATCCGTTCCACCACGTGGGGACTGCTGCTGGTGGGGCTCCTTTGTGACCGTGCTGCCTGCCTGTGATGTGCATATTAAAATGGATGTATTTGGGTGGGGAAATGGAATTGTGAGGCTGCAAGCTAGGAGTGACGAAGGGGGGCTCTCAGCTTCGGGTGATGCATTGAAGGTGACAGCCAAGCCGCGTTAGCACCTGCATAAAATATTAAAGGGACGGTTATGCATTTATCACTCCATCCCTCTTAAGGCTGATAAATGAGAATCCAGCAACCTGCTGTACACCTCCAGCACTGGGGGCCCTGAGGGCTTCCAGGCAAACACATTGGATTTTCCTCCTCCTCCTCTTCAGCCCTATGTCAGGGAAATCAGTTACAGAGGAGAGTGAGTTATGGCAAAATTTGACCTCCCATGAGCTTCATTGGTGAATCTAATTTTAGCTCTGATCCCATCCCTTCTCCCTGGGCGCCCTCTGCCCTGAAGCAAGAGGGGCCTGGGCCCAGCTGCTCCCTCCTTCCCTTGGGCTCTCCCCAGTTGCTACAAAGGAGTGTGCAGGGCCCTGCCCATCTCCAGTGCCCTCCCAGCTCCTTGGAAGAGCAAGGCTTGACACCCCCCACCAGGTCAGACAGCAGAATTGGTTGGGTGCCCAGGGTTAGTGACTTGTTAAACTCCCCAGCCTTGGGCAGGGGAAAAGGGGAGCTGTCTGCCTCTTGGCCTCCAGCTCTTCTCTCTTTCTGTGCACAAGCACAGCTGGTACTGCAGCTTGTGGTCATTAAGTGAGCCAATCTGCTTCCCGTCTGCCTCTCTCTCTGGGCAACACCTTTGGGAATACTGCTGTGTATGGTCCCTGGGGAATCTCACAGCAGCTGGGAAGAAGTTCTCTGCCTTCGTGGGGCCGTGCTACCTGGGCAGATGCTGAGGAGTGGTCTCTGCAGGGCCGTCCAGTGCAGACTGGTTCCACGAAGGGGCTAAGAGCCCAGATGAGACATTATGCCTCTGGGCGTCTCTCACATTACCCAGGTGTTTGGGGGCAAGCCAAAACATAAATCAGGAAGGTTAGTCAGACCAAACAGTCTCCCTGAGCCGGAGCTGGAGAGTGTTAGTTTGCCATTTCACTCATCCCGTACTGGAGCCTTCGAGTATCTGAGGCCCTAGAAGAGTGAGCAGCAGGGCTGACGACTGTCCCATGAGTTGGACACATGGGTGTCCGATGGCAGCCACACAGGGTCAGTTTCAACGTGCTGCTCTGGTTAGCTCTGTTGGCAGCTGCAACTGCTCACATCCTCCATTGCTGTGGCACCTTCTTAGGTTCCTTGGCACAGACCTGGACCTGATGGCTTCTGGGCACCAGACAGGGCTTATGGAGGATAAAGCTGCAAAGGGCCTGCTGATTTGACAAGAGTATTTCCCCTGTGCCGGGATGCACTTGCACAGCAGTGTGAGGGGCTCTTAGGCCCCGGGCGGGTATCCGTTTTCCCTGAGTGTTTACACTGTGAGGTTGTTCCTTTCAAGAATTCCTGAGGGGAGTTCAAAGGGGGCTTTTCTTTGAGCGATTTGGAGAGCGAGAATGAGAGTGAGACTTGAAGAGGGAACAGGGGCCGGAGGTGCCTTTATCTGCAGAGAATTGCTCCAGCTTTCCTGATAGAAGCTGCTGCCGCCTCTTAAACAGCTTAGTGCAGTCAAAAGACAGGCAGACTTGAAAGGCTGTTTTACAGCGAGATCAGCGGGGGCCACGAGGCAGAGAGCGGGGCGCAGTGGAGCGGAGGAGGCTGAGGCTCCTCAGTGGGGGGGCTATCAAAGGGAGGCCCTGGCTGATCCCTACTGCCTCTGCCCCCAAAACCCTGTCTGCAAAAGCTGGCCATCTGTCAGCCTACCCTCCCTGGCCAGGACTGATAGGCCCTAACTCTTGGGGGGTT
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GTTTGGGTCTTTCTGGGGTTGCTCTGTTTTGGAGTTGGAGTAGCTCCCTGCCTCAGGCTCACAACAGGCAGGAGCTGGAGCCCTAGCACACTCACTGGGACCAGTCTTTGTTGATGCTGCTCAGTTAGGAGGTCCCCTTGAAACAGGAGGGCATTCTAGGTTGTGAAGTCAGTTCTGGTTTCCTATCTTGCCTTTGCCACTTTTTAGCTACTTGGACACGTACCTTGATCTCTCTAAGCTTTGGGTTTCTTCATCTGTTAAAATGGGATAATGCAATCTAGCTTCAGCAAGTGGTAGTAAATGAGCTACCTTGGGTAAGGTACTTGGCTGTGAGCCTGACACACGGTAGAAGCTTAAATTGTAACATAGCAGCTCTCACCTGTGTTCCCCTCCTAGATTGCATTCATGAGCTTCCCGTTAGGGTCACTGTCCATGAGAAAGTTCTTCCTGGCCCTGCTTTGGGGAACCTTTCCCTCCTTTGCTGGCTCTCCCCACTCCCCATCAGTCTGGTCCCAGAGTAGCCATCTCTGATCCTGCTGTGGCATTCTGGAAGGGACTAGAGGGAAGAGAGTTTCTTGTTTTGACCCCTTCCTGCTTCAGTGACAGGAGGGCTACAGAGAGGGATTAGTGAGCTAATTAGAAATGATTGCATTGCTCAGCATTAATTAGCAGTGTTGTGGGCTTGCAGTGTGCACTTTGGAACTGAGCCCCCTGTGGGACAACATGGCAGGCAGCCCTCTGCCTCCAGGGCCTGCCAGCCCCTCTGTACTGATTAGAAATGATGGAACAGGTTCGGGTGGGCACAATAAGGGCTGCCTTCTCAGGGTTCCCTGAGCCTTCTGACCTGGCTGCCAAAGGTCTGACCCAGACCGTCTTACCTTTATGACTGGGCCTCAGTCTCCTCTTCTGTGAAATGGGATTAGTGGACCTCAGAGAAATTCTTCCTGATAAGATTCTAGGTGGGATGCTAGGAGCTGTACCTCAGGGCTCTTGGCCCAGGAACCAAAGAGGATTTAGCTGATGAGTGAACAGCAGGCCAAGTCAGGCCATCGGAGGGGTTAGGTTCTAGTCAAGAGATGCTCTTTAGAGTTGTATTTCCTGACACCAAAAGAGTTCATGGTCTTGGCCTTCTGGAGAGATACCTAGCAACATGGAGTGTCTTTGCTCACTGGATTTTTATTAAACACTGCAAATAGAAAGGTATGGGTAGACCTTGCACCAGCTGCAGCCAAAGAGTGGACTTACTCACTGGCTTAGTTAGCACCAGTCTCCTCCCCAGGTGCTCTTGGCAAAGCCCAGTCCCCAAAGGAGCAGGAGGTATTTCAAGATGAGGGCCAGATCAGGCACTGAATAAAAAGGCCAATGGCTGGCAAGAGGTCAGGATGTGTCAGCTCCACTGGGACCCTGGGGGCTGCAGTGACCGTCTGCTTGTTCTGTGCTTTGTTTTCGGTTTCCCCGTGCAGCTCGGATTGGGAAAATGAAACGGAGGAAGCAAGATGAAGGGCAGGTATGTCCCCTGTGCAACCGCCCCCTGGCAGGATCGGAGCAGGAGATGAGTAGGCATGTGGAGCATTGCCTTTCTAAGGTAGAGGGGCCATCACCACCCACCTTCCTTCCCCGCTCCCTTCCCCCGACACTAGCTGCTGACTGCCCCTGAATCTGTGGGCTCTTGGGGTCTCCATGTGGTCTCAGCAGCTTCTTCCCTTCTGACCACTGCTCTCTCCTTTTGCTTTCACTCTCACTCATTCCCTCCTTGGGCTCCAGCGGAAAACTATTGGGAAGAGGCCCAGGTCTTTGACCTCTAAATTGGTTTGCTTCAAAGGAGCCCTAGAGCTGAGGGCCCACTTGGCACACCACAGCTGGGGCTAGAGCTGTGCCTTCGTTGCAGACTGTGGGGAGCAGGTGGGGATGGCCTGGGCCCAGCATGATCCTGCTCTGCTCTTCACAGAGGGAAGGCTCCTGCATGGCTGAGGATGATGCTGTGGACATCGAGCATGAGAACAACAACCGCTTTGAGGAGTATGAGTGGTGTGGACAGAAGCGGATACAGGCCACCACTCTCCTGGAAGGTGGCTTCCGAGGTACAAGCAGCTGACACGTAGACATTGGCACTCTGGTGCCAGGCCTCTGCTGGGTATCCATCTGCTGGAAGCCAAGAGGCCGAGGCTGGTGGCTGGTCATCCATCCGTTCCACCACGTGGGGACTGCTGCTGGTGGGGCTCCTTTGTGACCGTGCTGCCTGCCTGTGATGTGCATATTAAAATGGATGTATTTGGGTGGGGAAATGGAATTGTGAGGCTGCAAGCTAGGAGTGACGAAGGGGGGCTCTCAGCTTCGGGTGATGCATTGAAGGTGACAGCCAAGCCGCGTTAGCACCTGCATAAAATATTAAAGGGACGGTTATGCATTTATCACTCCATCCCTCTTAAGGCTGATAAATGAGAATCCAGCAACCTGCTGTACACCTCCAGCACTGGGGGCCCTGAGGGCTTCCAGGCAAACACATTGGATTTTCCTCCTCCTCCTCTTCAGCCCTATGTCAGGGAAATCAGTTACAGAGGAGAGTGAGTTATGGCAAAATTTGACCTCCCATGAGCTTCATTGGTGAATCTAATTTTAGCTCTGATCCCATCCCTTCTCCCTGGGCGCCCTCTGCCCTGAAGCAAGAGGGGCCTGGGCCCAGCTGCTCCCTCCTTCCCTTGGGCTCTCCCCAGTTGCTACAAAGGAGTGTGCAGGGCCCTGCCCATCTCCAGTGCCCTCCCAGCTCCTTGGAAGAGCAAGGCTTGACACCCCCCACCAGGTCAGACAGCAGAATTGGTTGGGTGCCCAGGGTTAGTGACTTGTTAAACTCCCCAGCCTTGGGCAGGGGAAAAGGGGAGCTGTCTGCCTCTTGGCCTCCAGCTCTTCTCTCTTTCTGTGCACAAGCACAGCTGGTACTGCAGCTTGTGGTCATTAAGTGAGCCAATCTGCTTCCCGTCTGCCTCTCTCTCTGGGCAACACCTTTGGGAATACTGCTGTGTATGGTCCCTGGGGAATCTCACAGCAGCTGGGAAGAAGTTCTCTGCCTTCGTGGGGCCGTGCTACCTGGGCAGATGCTGAGGAGTGGTCTCTGCAGGGCCGTCCAGTGCAGACTGGTTCCACGAAGGGGCTAAGAGCCCAGATGAGACATTATGCCTCTGGGCGTCTCTCACATTACCCAGGTGTTTGGGGGCAAGCCAAAACATAAATCAGGAAGGTTAGTCAGACCAAACAGTCTCCCTGAGCCGGAGCTGGAGAGTGTTAGTTTGCCATTTCACTCATCCCGTACTGGAGCCTTCGAGTATCTGAGGCCCTAGAAGAGTGAGCAGCAGGGCTGACGACTGTCCCATGAGTTGGACACATGGGTGTCCGATGGCAGCCACACAGGGTCAGTTTCAACGTGCTGCTCTGGTTAGCTCTGTTGGCAGCTGCAACTGCTCACATCCTCCATTGCTGTGGCACCTTCTTAGGTTCCTTGGCACAGACCTGGACCTGATGGCTTCTGGGCACCAGACAGGGCTTATGGAGGATAAAGCTGCAAAGGGCCTGCTGATTTGACAAGAGTATTTCCCCTGTGCCGGGATGCACTTGCACAGCAGTGTGAGGGGCTCTTAGGCCCCGGGCGGGTATCCGTTTTCCCTGAGTGTTTACACTGTGAGGTTGTTCCTTTCAAGAATTCCTGAGGGGAGTTCAAAGGGGGCTTTTCTTTGAGCGATTTGGAGAGCGAGAATGAGAGTGAGACTTGAAGAGGGAACAGGGGCCGGAGGTGCCTTTATCTGCAGAGAATTGCTCCAGCTTTCCTGATAGAAGCTGCTGCCGCCTCTTAAACAGCTTAGTGCAGTCAAAAGACAGGCAGACTTGAAAGGCTGTTTTACAGCGAGATCAGCGGGGGCCACGAGGCAGAGAGCGGGGCGCAGTGGAGCGGAGGAGGCTGAGGCTCCTCAGTGGGGGGGCTATCAAAGGGAGGCCCTGGCTGATCCCTACTGCCTCTGCCCCCAAAACCCTGTCTGCAAAAGCTGGCCATCTGTCAGCCTACCCTCCCTGGCCAGGACTGATAGGCCCTAACTCTTGGGGGGTT
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Task1_train_831
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The gene EIF2B3 (eukaryotic translation initiation factor 2B subunit gamma) is located on Chromosome 1, where a mutation has occurred. What is the medical relevance of this mutation?
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Pathogenic; not provided
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AGGTTATGTATCCCTTATCTGAAATACTTGGGACCAGAAGTGTTTTATTTTTTATTTATTTATTTTTTTTTTTGAGACAGAGTCTTGCTCTGTCACCCAGGCTGGAGTGCAGTGGTGCGATCTCAGCTCACTGCAACCTCTGCCTCCTGGGTTCAAGCCATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGACTACAGGTGCACACCACCACACCTGGCTAATTTTTTTTTTTTTTGTATTTTTAGTAGAGATGGGGTTACACCATGTTGGCCAGGCTAATCTCGAACTCCTGACCTCAGGTGATGCACCTGCCTCAGCCTCCCAAAATGCTGGGATTACAGGCATGAGCCACTGTGCCGGGCCAGAAGTGTTTTAGATTTTGGATTTTTTAAAATTTTTTTGAATATTTGCATTATACTTACCGTTTCAGCATCCCTAACCCAAAAATCTGAACTCTCAAATGTTCCAGTGAGAATTTCCTTTGAGTGTCAAGTTGGTGCTCAAAAGTTTCGGATTTTGGAGCATTTGATTTTGGGTTTTTGGATTAGGGATATTCAACTTGTACAACTTCTTCATTTTCCCAGAGTTAATAACAGTCTTGTTTTTGTTAAATAGTGTTGTTTTTTCTATGTTATCCCCGATTCAACTTCAAACTTTTAGCCAGTTGCCTAAATCGACTTTCAAATGTTTGTATGTATCTGGTATTTTATCAGTTGCATCTTGCTGAATAAATCTTTCCTGGATTCTTTGGTTTTGTTCCAGTTTGGATTAACTAATCCCTTTATGCCCCATTTAGAGCTGTCATTCTTATCTCTGTTCACTGTTATCCCATGGATTCTTTTTGCCCTTTTTCTGAGTTGAATCTCTTGTTTCTGATCTTTCTCTGTTTGGTTTATTTTCCATTTTAGAGGAATAAATTTCCTAGTAAAGTTTTTGAGACTTTTGATATCTGAAAATGTTTTTATTCTATTGCCCTCTTGATTAGCACTTTGCCTGGGTATACAATTTTAGGTTAAAATTAACCTTCCTTCAGAATTTTGAAGGCATTTTTCCATTATCTTTGCCTCAAGTGGGTACAGGGGGAAACATACCCTTCCTCCACAGTGACTGAGTTCATGAGAAGGCAATTGGTAATAGTCACTCTATCTTTTATGAGACAGGATGAGCCAATGACTGAGCGCTTAATGGATGACTTCTCTCCAATCTGTGTCTCTGGCCCAATGAGGCTGTCAACTCCAACCTGTAAAAGGCAAAATATAAAACTCTGTCCACCCATCTCAACCAACTGCAAACCACCCTCCAGATCCCTCAAGCTGGGATCTAATGGGATCTTTCCATAGAGACACTTCAGCAAGAGGGACCATGATCAGTATTTCTCAGGGCCACAAGGTCATACAACACCTCTGAGACCAACTCAAACCTATTTGAAGCATGGGCCCTCCTCTCTTGCCAAGAAAACAAAATAAAACAACAGACACATATACACACTCATGCACTTGTGTATACAGATGTGCTCTCTTAAAGAGTGTGCTCAAATCAGAGTTAGAAGGGGGACAGATTGTGCCACTGCACTCCAGCCTGGGCAACAGAGTGAGACTCTGTCTCAAAAAAAAAGAAAAAGAAAATTGGGACTGACTCCTGAAGAAAACTTGGCTCAGGAATCTGTAGGACCCATACCAGATAAAACCTCAGGTGAGCCTCTACCTGGATTGGTTACAGATCCAAGGGAGTCCCAAGCCAGAGAGCTTATGAGAATCATAGGTAGTCCCACATTTACCCATGACTAGAGTCTTTCAGGCTGAGATTGAGAGCTCCTGTGTCTGAGTCCCAACACTATAATGGACCCTTCCTTACAAGGTCATTACTTGCCCAGGCAGTCTTGTTGAGTGAGATTTTATTCTCAGAACCCACTGTGATTTCCCTGGGGCTGATGAGGTTCAGGACTTAAAGGCCTCAATCCGGCTTCTCAAAAACAAGTCTCGATGCTCCCAAAGAACATCTCATGCCCGTCCTGGCCACACTAGCACTTACCAGGTGTTTGCTGACAATCTGGGCTGACGAATGGACTGGTGGTTCTTCTGGACAGAGAGCAGACAGCAATTTGGGCACCTTAAGGACAGAGATTTGGTCACTAAAGATCAGAAAACACCTTAGGTAGCTCTCCCTCTCCCTCTCCCTCTACCTCTCCCACTCCCCCTCCCCACGGTCTCCCTCTCCCTCTCTTTCCACGGTCTCCCTCTGATGCCGAGCCAAAGCTGGACTGTACTGCTGCCATCTCGGCTCACTGCAACCTCCCTGCCTGATTCTCCTGCCTCAGCCTGCCGACTGCCTGCAATTGCAGGCGCGCGCCGCCACGCCTGACTGGTTTTCGTATTTTTTTGGTGGAGACGGGTTTCGCTGTGTTGGCCGGGCTGGTCTCCAGCTCCTAACCGCGAGTGATCCGCCAGCCTCGGCCTCCCGAGGTGCCGGGATTGCAGACGGAGTCTGGTTCACTCAGTGCTCAATGGTGCCCAGGCTGGAGTGCAGTGGCGTGATCTCGGCTAGCTACAACCACCTCCCAGCCGCCTGCCTTGGCCTCCCAAAGAGCTGAGATTGCAGCCTCTGCCCGGCCGCCACACCGTCTGGGAAGTGAGGAGCGTCTCTGCCTGGCCGCCATCCCATCTAGGAGGTGAGGAGCACCTCTTCCCCGCTGCCATCCCATCTAGGAAGTGAGGAGCGTCTCTGCCCGGCCGCCCATAGTCTGGGATGTGGGGAGCGCCTCTGCCCCGCCGCCCCGTCTGGGATGTGAGGAGCGCCTCTGCCTGGCCGCGACCCTGTCTGGGAGGTGAGGAGCGTCTCTGCCCGGCCGCCCCGTCTGAGAAGTGAGGAGACCCTCTGCCTGGCAGCCGCCCCGTCTGAGAAGTGAGGAGCCCCTCCGTCCGGCAGCCACCCCGTCTGGGAAGTGAGGAGCGTCTCCGCCCGGCAGCCACCCCGTCCGGGAGGGAGGTGGGGGTCAGCCCCCCACCCGGCCAGCCGCCCCATCCGGGAGGTGAGGGGCGCTTCTGCCTGGCCGCCCCTACTGGGAAGTGAGGAGCCCCTCTGCCCGGCCACGACCCCCTCTGGGAGGTGTACCCAACAGCTCATTGAGAACGGGCCATGATGACAATGGCGGTTTTGTGGAATAGAAAGGCGGGAAAGGTGGGGAAAAGATTGAGAAATCGGATGGTTGCTGTGTCTGTGTAGAGAGAAGTAGACATGGGAGACTTTTCATTTTGTTCTGTACTAAGAAAAATTCTTCTGCCTTGGGATCCTGTTGATCTGCGACCTTACCCCCAACCCTGTGCTCTCTGAAACATGTGCTGTGTCCACTCAGGGTTAAATGGATTAAGGGCGGTGCAAGATGTGCTTTGTTAAACAGATGCTTGAAGGCAGCATGCTCGTTAAGAGTCATCACCACTCCCTGATCTTAAGTACCCAGGGACACAAACGCTGCGGAAGGCCACAGGGTCCTCTGCCTAGGAAAACCAGAGACCTTTGTTCACTTGTTTATCTGCTGACATTCCCTCCACTATTGTCCTATGACCCTGCCAAATCCCCCTCTGCGAGAAACACCCAAGAATGATCAATAAAAAAAAAAAAAAAAAAAAAAAAAAAAAACACCTTAGGTAGAACCCAGTGCTCAATCAGAGATACAGGGAGTTCTCAGCCATAGCTTCCTGTCTGAGTGAGGGGGAGCAGGAGGCTGCTGCATTCCCCCTAGGACCAAGATTATTTATGCAGCAGCTTCTAGATGGCCTTATTGTCAGTCTCTTAGCTTTGAATGCTCCTCCTTGAAAGTAATGCCATGTCCCTTGGCTGGGAGGCACTGAGACCAGTCTTTGAGATACCCACATACCACCTCTTGGGAAAGGAGGCCTGATCAGGTCAAGGAACACCCCGCATCCTGATCATAAGCATCCTGGGTTCCTGGTCACCTCCTGGACCACTGTGACCACGCATGAGGTGAGGATGAGATCCATTTTAGACAAATTCGAAATCAAGGACAGACCCTGAGAAGGCATCTATCCCCCAGCCAAAAGAAAACATGAAGGGGAAGTTCACACTATTCCCTCTCCA
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AGGTTATGTATCCCTTATCTGAAATACTTGGGACCAGAAGTGTTTTATTTTTTATTTATTTATTTTTTTTTTTGAGACAGAGTCTTGCTCTGTCACCCAGGCTGGAGTGCAGTGGTGCGATCTCAGCTCACTGCAACCTCTGCCTCCTGGGTTCAAGCCATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGACTACAGGTGCACACCACCACACCTGGCTAATTTTTTTTTTTTTTGTATTTTTAGTAGAGATGGGGTTACACCATGTTGGCCAGGCTAATCTCGAACTCCTGACCTCAGGTGATGCACCTGCCTCAGCCTCCCAAAATGCTGGGATTACAGGCATGAGCCACTGTGCCGGGCCAGAAGTGTTTTAGATTTTGGATTTTTTAAAATTTTTTTGAATATTTGCATTATACTTACCGTTTCAGCATCCCTAACCCAAAAATCTGAACTCTCAAATGTTCCAGTGAGAATTTCCTTTGAGTGTCAAGTTGGTGCTCAAAAGTTTCGGATTTTGGAGCATTTGATTTTGGGTTTTTGGATTAGGGATATTCAACTTGTACAACTTCTTCATTTTCCCAGAGTTAATAACAGTCTTGTTTTTGTTAAATAGTGTTGTTTTTTCTATGTTATCCCCGATTCAACTTCAAACTTTTAGCCAGTTGCCTAAATCGACTTTCAAATGTTTGTATGTATCTGGTATTTTATCAGTTGCATCTTGCTGAATAAATCTTTCCTGGATTCTTTGGTTTTGTTCCAGTTTGGATTAACTAATCCCTTTATGCCCCATTTAGAGCTGTCATTCTTATCTCTGTTCACTGTTATCCCATGGATTCTTTTTGCCCTTTTTCTGAGTTGAATCTCTTGTTTCTGATCTTTCTCTGTTTGGTTTATTTTCCATTTTAGAGGAATAAATTTCCTAGTAAAGTTTTTGAGACTTTTGATATCTGAAAATGTTTTTATTCTATTGCCCTCTTGATTAGCACTTTGCCTGGGTATACAATTTTAGGTTAAAATTAACCTTCCTTCAGAATTTTGAAGGCATTTTTCCATTATCTTTGCCTCAAGTGGGTACAGGGGGAAACATACCCTTCCTCCACAGTGACTGAGTTCATGAGAAGGCAATTGGTAATAGTCACTCTATCTTTTATGAGACAGGATGAGCCAATGACTGAGCGCTTAATGGATGACTTCTCTCCAATCTGTGTCTCTGGCCCAATGAGGCTGTCAACTCCAACCTGTAAAAGGCAAAATATAAAACTCTGTCCACCCATCTCAACCAACTGCAAACCACCCTCCAGATCCCTCAAGCTGGGATCTAATGGGATCTTTCCATAGAGACACTTCAGCAAGAGGGACCATGATCAGTATTTCTCAGGGCCACAAGGTCATACAACACCTCTGAGACCAACTCAAACCTATTTGAAGCATGGGCCCTCCTCTCTTGCCAAGAAAACAAAATAAAACAACAGACACATATACACACTCATGCACTTGTGTATACAGATGTGCTCTCTTAAAGAGTGTGCTCAAATCAGAGTTAGAAGGGGGACAGATTGTGCCACTGCACTCCAGCCTGGGCAACAGAGTGAGACTCTGTCTCAAAAAAAAAGAAAAAGAAAATTGGGACTGACTCCTGAAGAAAACTTGGCTCAGGAATCTGTAGGACCCATACCAGATAAAACCTCAGGTGAGCCTCTACCTGGATTGGTTACAGATCCAAGGGAGTCCCAAGCCAGAGAGCTTATGAGAATCATAGGTAGTCCCACATTTACCCATGACTAGAGTCTTTCAGGCTGAGATTGAGAGCTCCTGTGTCTGAGTCCCAACACTATAATGGACCCTTCCTTACAAGGTCATTACTTGCCCAGGCAGTCTTGTTGAGTGAGATTTTATTCTCAGAACCCACTGTGATTTCCCTGGGGCTGATGAGGTTCAGGACTTAAAGGCCTCAATCCGGCTTCTCAAAAACAAGTCTCGATGCTCCCAAAGAACATCTCATGCCCGTCCTGGCCACACTAGCACTTACCAGGTGTTTGCTGACAGTCTGGGCTGACGAATGGACTGGTGGTTCTTCTGGACAGAGAGCAGACAGCAATTTGGGCACCTTAAGGACAGAGATTTGGTCACTAAAGATCAGAAAACACCTTAGGTAGCTCTCCCTCTCCCTCTCCCTCTACCTCTCCCACTCCCCCTCCCCACGGTCTCCCTCTCCCTCTCTTTCCACGGTCTCCCTCTGATGCCGAGCCAAAGCTGGACTGTACTGCTGCCATCTCGGCTCACTGCAACCTCCCTGCCTGATTCTCCTGCCTCAGCCTGCCGACTGCCTGCAATTGCAGGCGCGCGCCGCCACGCCTGACTGGTTTTCGTATTTTTTTGGTGGAGACGGGTTTCGCTGTGTTGGCCGGGCTGGTCTCCAGCTCCTAACCGCGAGTGATCCGCCAGCCTCGGCCTCCCGAGGTGCCGGGATTGCAGACGGAGTCTGGTTCACTCAGTGCTCAATGGTGCCCAGGCTGGAGTGCAGTGGCGTGATCTCGGCTAGCTACAACCACCTCCCAGCCGCCTGCCTTGGCCTCCCAAAGAGCTGAGATTGCAGCCTCTGCCCGGCCGCCACACCGTCTGGGAAGTGAGGAGCGTCTCTGCCTGGCCGCCATCCCATCTAGGAGGTGAGGAGCACCTCTTCCCCGCTGCCATCCCATCTAGGAAGTGAGGAGCGTCTCTGCCCGGCCGCCCATAGTCTGGGATGTGGGGAGCGCCTCTGCCCCGCCGCCCCGTCTGGGATGTGAGGAGCGCCTCTGCCTGGCCGCGACCCTGTCTGGGAGGTGAGGAGCGTCTCTGCCCGGCCGCCCCGTCTGAGAAGTGAGGAGACCCTCTGCCTGGCAGCCGCCCCGTCTGAGAAGTGAGGAGCCCCTCCGTCCGGCAGCCACCCCGTCTGGGAAGTGAGGAGCGTCTCCGCCCGGCAGCCACCCCGTCCGGGAGGGAGGTGGGGGTCAGCCCCCCACCCGGCCAGCCGCCCCATCCGGGAGGTGAGGGGCGCTTCTGCCTGGCCGCCCCTACTGGGAAGTGAGGAGCCCCTCTGCCCGGCCACGACCCCCTCTGGGAGGTGTACCCAACAGCTCATTGAGAACGGGCCATGATGACAATGGCGGTTTTGTGGAATAGAAAGGCGGGAAAGGTGGGGAAAAGATTGAGAAATCGGATGGTTGCTGTGTCTGTGTAGAGAGAAGTAGACATGGGAGACTTTTCATTTTGTTCTGTACTAAGAAAAATTCTTCTGCCTTGGGATCCTGTTGATCTGCGACCTTACCCCCAACCCTGTGCTCTCTGAAACATGTGCTGTGTCCACTCAGGGTTAAATGGATTAAGGGCGGTGCAAGATGTGCTTTGTTAAACAGATGCTTGAAGGCAGCATGCTCGTTAAGAGTCATCACCACTCCCTGATCTTAAGTACCCAGGGACACAAACGCTGCGGAAGGCCACAGGGTCCTCTGCCTAGGAAAACCAGAGACCTTTGTTCACTTGTTTATCTGCTGACATTCCCTCCACTATTGTCCTATGACCCTGCCAAATCCCCCTCTGCGAGAAACACCCAAGAATGATCAATAAAAAAAAAAAAAAAAAAAAAAAAAAAAAACACCTTAGGTAGAACCCAGTGCTCAATCAGAGATACAGGGAGTTCTCAGCCATAGCTTCCTGTCTGAGTGAGGGGGAGCAGGAGGCTGCTGCATTCCCCCTAGGACCAAGATTATTTATGCAGCAGCTTCTAGATGGCCTTATTGTCAGTCTCTTAGCTTTGAATGCTCCTCCTTGAAAGTAATGCCATGTCCCTTGGCTGGGAGGCACTGAGACCAGTCTTTGAGATACCCACATACCACCTCTTGGGAAAGGAGGCCTGATCAGGTCAAGGAACACCCCGCATCCTGATCATAAGCATCCTGGGTTCCTGGTCACCTCCTGGACCACTGTGACCACGCATGAGGTGAGGATGAGATCCATTTTAGACAAATTCGAAATCAAGGACAGACCCTGAGAAGGCATCTATCCCCCAGCCAAAAGAAAACATGAAGGGGAAGTTCACACTATTCCCTCTCCA
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Task1_train_832
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This variant affects the gene EIF2B3 (eukaryotic translation initiation factor 2B subunit gamma) found on Chromosome 1. What is the clinical effect of this variant — benign or pathogenic? State the disease if applicable.
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Pathogenic; Vanishing white matter disease
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CTCCCTTGACGTGCCAGGTCTTGCTCAACCTTGGGAATGACAGGGATTCTTAACAAGTTACTATGTACCTAATGAAGAAACAGACAAGTGGCTCAGTCTGTTTCTAGGACAAGAGCCCCATGATTTTCTAACTCATGCTCTCACCTGTCTGTTTGCTTCCATGTAGAGTCCCAGTGTGCTCACTCGAGAGCAGAGCCCCTCTTTCATGATGTGGACATAGCAGCGCACCTGTGATCTGGACAAGTCTTCCCACCTGTCTCCTCGACAGGCATTCCAGCAGGCATCATAGGGAGCCAGGTTCAGTGTATTGGCTTCTTTTATAAAACTGTAGATATCTTCAGAACAAACACCCAACCAAGGAAATAAATGAGAGAGAGATAACAGAACAGATACAGACTCAGTCAAGTTGTTTTTTTGTTTATTTAAGAGACGAGGTCTTGCTATGTTGCCTAGGCTGGTCTCAAACTCCCAGACTCAAGGGATCCTCCCACCTCAGCTTCCTGAGCAGCTGGGACTACAGGTGTGCACCACCATGCTTGGCTCTAAGTTTTAAAAGAGATTACAGCTCACACTTCTTCCTTTGAAACTCACCCACAAAACATGAACCCTGAGGAAATCCCACTAAAATCTGTAAGAGAAAGTCAAACTAAAAGAGGAAATGTACTTCCCTAAAATATCATATGATATAAAAATGCTTAATACGAGGTCCTAAAAGCATGTGACCGGTAATCAAGACCACTAGGGAAAATAAAACAGATGACCCTTGTAAATCATGAAATAACACAAGCCAGCATCCAGGCTTTAGTGGCCAGCCAGGTTGACTTTGTGCTGCTAGTCTCTATTACCATATCTGGTAGCTGTGCTATGACAGAAAGTACAGAACTTGGAGCCCAGAGTACCAGGGCTCTAGTTTTTCAGCTCTTACAACGATCCTTTGAGATCTTTTACTTTCTCATAAAAAAACTGGGGCTCAGAGGACTGAGTAACCTGCCTCAAGACACAATGCTGGCCGGGCACGGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGTGGATCATGAGGTCAGGAGATCGATACCATCCTGGCTAACACAGAGAAACCCCGTCTCTACTAAAAATACAAAAATTAGCCGGGCGTGGTGGCGTGTGCCTGTAGTCCTAGCTGCTGGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGATTGCGCCACTGCCCTCCAGCCTGGGCGACAGAGGGAGACTCCGTCTCAAAAAAATAAAAAAAAAAAAAGACACAATGCTAGTAAGAGGCAGTCAGATTTCAAATCCAGAACTGTCTGATGCCCAGTTCTACAGTCCTAATCATCATGCTGTACTGTCAGTGTATTCATTTGATAAATACTTTTTCAGAATATCTACTATGAGTCCACGACTGGGCCGGGGATTAGGGATATGACAGCAAACAAGACAGATCCGATCTTCAGATCCTGGCACGGAGACACCTGGGTTGGCCTGTGGTTGGACTGCAATTGTACATTCCTTCACTTTCCTTCCCTTGATAAAAGAGGTTGAGTTTAATCAGGAACGGGGCTGCCTAGAGCCTAGAGAACAGGGGAACTAAGAAGTGGCAGGTGGAGTTTAAAGGCAAAATGGTCTAGTGAGGAACACAGCCAAACCAGAGCTATGAATCAGAGAATGGGGCTGGAGGCATGATTAGCCTGTTGCCGAGAGCACAGTGGCAGAATCTGCCTGAGCAAGCTTACCCAGAGCTCAGTGGGTTGGCAAGCCTGTCTTGCCTCGTAGGCTAGAAATAGTCTGCTGCCTTGAGTCAGGCATCTTGGGCTGGGCTAAGCTGCCCAACCACTCTTTCCAAAGGTGCTGCTACCCTTGCCCCTCTTACTGAACCAACCCAAGAACTGACCTAAGGACTTCAGCTCCTTTTTCTTTAGATCCTCCTCTTTTTCTTCTTGTCCCTGTTGTGAGGAAGCTGAGGAAAACTGTTTTCTCACTAAATATGGAATCAGTTCACTCCGGATAGAAGTTATTGACCTAGAAAGAAAGAATGGCCAAATATGAGAAACCTGACTGTCTGGAACATACCCGGATCAAAAGCTCTGTGCATACAAGGAAAAGCCAAATCCTTTCCTGTCATGGCACCTTGGGACTGTCAGAGATCAAATGTGGCATTGACTTGGCAGTTCGGAGAAGCAGAGTGCTTCCTGGTGGGTACTGAGACAGGATGTTGGGTCTAAGTGATCAGGAATCTGTACTAGGGGAAGAAGGGACCTGATCTTTAGTTCAGTGTGTGTTTTTTATTTATGTTTTTATTTATACTTAGCAATGGAAAGCAGAGAGATGAGAAACTAGCACATGTTTTTCAGTGTTCTCTCACACTGTGACCTTATTAGAATTTTATATTGCTAATTAATTTATGTAGCATTTACCAAGCATATGCGAGTTACTGTGCTAGGCCTTGGAAATACATCATTTCTGACTTCAAGGAATTCATAATCCAATGGACAGTAGCCTGTATGAGTTTAAGAGGAAAAGCAGAAGGTTAAGCTAATCAGGTAGGCAAGGGGGCCAGATCACGAAAGCTTTTTGTGGTGAAACCACCTTTGCAAAAATAACAGTGACAAAATTATGACAGTGAAAGAAATCTGACCTAATCAACTCCATCTTGCTGTTAACCTCCAAATTGCTCTTGCTCATTCCTGGACATAGGCTGAGCTAACTTTGGGAGAAAACTTTTTTTTTTTTTTTTCTGAGACAGGGTCTCACTCTGTCTGTTGCCCAGGCTGGAGTACAGTGGTGCGATCTCAGCTCACTGCAACCTTTGCCTCCCAGGTTCAAGTGATTCTCCCACCTCAGCCTCCTGAGTGGCTGGAAAGCTGGGATTACAGGTGTGAGAGCCACATGCCTGGCTAATTTTTTTTTTTTTTTTGAGACAGTCTTGCTCTATCGCCCAGGCTGGAGTGCAGTGGCATGATCTCAGCTCACTGCAACCTCTGCCTCCTGGGTTCAAGTGATTCTTGTGCTCCAGCCTCCCAAGTAGCTGGGACTACAGGCACATGCCACAATGCCTGGCTGTTTTTGTATTTTTTGGTAGGGATGGGGTTTTGCCATGTTGGCCAAGCTGGTCTCAAACTCCTGGCCTCAAGTGATCCGCCTGCTGCAGCCTCTTAAAGTGCTGGGATTACAGGCATGAGCCACTGTGCCTGACTTTTTTTTCTTTTTCTTTTTTTTTTTTTTTTTTTGAGATGGAGTCTCGCTCTGTGGCCCAGGCTGGAGTGTAGCGGTGCGATCTTGGCTTATCGCAACCTCCACCTCCCAGTTCAAGTGATTCTCCTGCCTCAGCCACCCAAGTAGCTGGGATTACAGGCGCCGGCCACCATGCCTGGCTAATTTTTGTATTTTGAGTAGAGATGGTGTCTCGTCATGTTGACCATCCTGAGGTCAGGAGTCTTGAACTCCTGACCTCAGGTGATCCGCTTGCTCCGGCCTCTCAACATGCTAGGATTACAGGTGTGAGCCACCATGCCTAGCCAGAAATTTATTACAGTTTATAGTTTAAATGATAATAGCCCTTCTCAAAATGAAACTGCCTTTATAAAACTAATAAAAGCGTACAAATTTAGGATTACAAGAGGGGCCTGAATTCTCATGATTACCAATCATTTTTCCAAAGGTCACAAGATTTGCAACTTCCCCAGTTACTCCTGTAAGTAACATCACTATTGTTGAACCTAAGATTGGCTTTTTAAGATGTCTTTTCTGACTTTTGCATTTCTGATGACTGGATGACTCCACTGGGACCAGTGACCCCTCTGTGGCCCCCATCCAAAACTGGGCTCAGCAGAGGACTGGTTTCCACACCCCTATGATTGCATCCCCAACCAATCAGCAGCACTCATTCCCTAGACCCCTGCCCACCAAACCATCCTTGAAAAACCCTAGCCTCAGAATTCTGGGGGAGGCTGATTTGAGTAATAATAAAATTCTGGTTTCCCGTTTAGCTGCCTCTATGTGTATTAAACTCTTTATTGCAATTCTCCCATCTTGATAAATCGTCTCTATCT
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CTCCCTTGACGTGCCAGGTCTTGCTCAACCTTGGGAATGACAGGGATTCTTAACAAGTTACTATGTACCTAATGAAGAAACAGACAAGTGGCTCAGTCTGTTTCTAGGACAAGAGCCCCATGATTTTCTAACTCATGCTCTCACCTGTCTGTTTGCTTCCATGTAGAGTCCCAGTGTGCTCACTCGAGAGCAGAGCCCCTCTTTCATGATGTGGACATAGCAGCGCACCTGTGATCTGGACAAGTCTTCCCACCTGTCTCCTCGACAGGCATTCCAGCAGGCATCATAGGGAGCCAGGTTCAGTGTATTGGCTTCTTTTATAAAACTGTAGATATCTTCAGAACAAACACCCAACCAAGGAAATAAATGAGAGAGAGATAACAGAACAGATACAGACTCAGTCAAGTTGTTTTTTTGTTTATTTAAGAGACGAGGTCTTGCTATGTTGCCTAGGCTGGTCTCAAACTCCCAGACTCAAGGGATCCTCCCACCTCAGCTTCCTGAGCAGCTGGGACTACAGGTGTGCACCACCATGCTTGGCTCTAAGTTTTAAAAGAGATTACAGCTCACACTTCTTCCTTTGAAACTCACCCACAAAACATGAACCCTGAGGAAATCCCACTAAAATCTGTAAGAGAAAGTCAAACTAAAAGAGGAAATGTACTTCCCTAAAATATCATATGATATAAAAATGCTTAATACGAGGTCCTAAAAGCATGTGACCGGTAATCAAGACCACTAGGGAAAATAAAACAGATGACCCTTGTAAATCATGAAATAACACAAGCCAGCATCCAGGCTTTAGTGGCCAGCCAGGTTGACTTTGTGCTGCTAGTCTCTATTACCATATCTGGTAGCTGTGCTATGACAGAAAGTACAGAACTTGGAGCCCAGAGTACCAGGGCTCTAGTTTTTCAGCTCTTACAACGATCCTTTGAGATCTTTTACTTTCTCATAAAAAAACTGGGGCTCAGAGGACTGAGTAACCTGCCTCAAGACACAATGCTGGCCGGGCACGGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGTGGATCATGAGGTCAGGAGATCGATACCATCCTGGCTAACACAGAGAAACCCCGTCTCTACTAAAAATACAAAAATTAGCCGGGCGTGGTGGCGTGTGCCTGTAGTCCTAGCTGCTGGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGATTGCGCCACTGCCCTCCAGCCTGGGCGACAGAGGGAGACTCCGTCTCAAAAAAATAAAAAAAAAAAAAGACACAATGCTAGTAAGAGGCAGTCAGATTTCAAATCCAGAACTGTCTGATGCCCAGTTCTACAGTCCTAATCATCATGCTGTACTGTCAGTGTATTCATTTGATAAATACTTTTTCAGAATATCTACTATGAGTCCACGACTGGGCCGGGGATTAGGGATATGACAGCAAACAAGACAGATCCGATCTTCAGATCCTGGCACGGAGACACCTGGGTTGGCCTGTGGTTGGACTGCAATTGTACATTCCTTCACTTTCCTTCCCTTGATAAAAGAGGTTGAGTTTAATCAGGAACGGGGCTGCCTAGAGCCTAGAGAACAGGGGAACTAAGAAGTGGCAGGTGGAGTTTAAAGGCAAAATGGTCTAGTGAGGAACACAGCCAAACCAGAGCTATGAATCAGAGAATGGGGCTGGAGGCATGATTAGCCTGTTGCCGAGAGCACAGTGGCAGAATCTGCCTGAGCAAGCTTACCCAGAGCTCAGTGGGTTGGCAAGCCTGTCTTGCCTCGTAGGCTAGAAATAGTCTGCTGCCTTGAGTCAGGCATCTTGGGCTGGGCTAAGCTGCCCAACCACTCTTTCCAAAGGTGCTGCTACCCTTGCCCCTCTTACTGAACCAACCCAAGAACTGACCTAAGGACTTCAGCTCCTTTTTCTTTAGATCCTCCTCTTTTTCTTCTTGTCCCTGTTGTGAGGAAGCTGAGGAAAACTGTTTTCTCACTAAATATGGAATCAGTTCACTCGGGATAGAAGTTATTGACCTAGAAAGAAAGAATGGCCAAATATGAGAAACCTGACTGTCTGGAACATACCCGGATCAAAAGCTCTGTGCATACAAGGAAAAGCCAAATCCTTTCCTGTCATGGCACCTTGGGACTGTCAGAGATCAAATGTGGCATTGACTTGGCAGTTCGGAGAAGCAGAGTGCTTCCTGGTGGGTACTGAGACAGGATGTTGGGTCTAAGTGATCAGGAATCTGTACTAGGGGAAGAAGGGACCTGATCTTTAGTTCAGTGTGTGTTTTTTATTTATGTTTTTATTTATACTTAGCAATGGAAAGCAGAGAGATGAGAAACTAGCACATGTTTTTCAGTGTTCTCTCACACTGTGACCTTATTAGAATTTTATATTGCTAATTAATTTATGTAGCATTTACCAAGCATATGCGAGTTACTGTGCTAGGCCTTGGAAATACATCATTTCTGACTTCAAGGAATTCATAATCCAATGGACAGTAGCCTGTATGAGTTTAAGAGGAAAAGCAGAAGGTTAAGCTAATCAGGTAGGCAAGGGGGCCAGATCACGAAAGCTTTTTGTGGTGAAACCACCTTTGCAAAAATAACAGTGACAAAATTATGACAGTGAAAGAAATCTGACCTAATCAACTCCATCTTGCTGTTAACCTCCAAATTGCTCTTGCTCATTCCTGGACATAGGCTGAGCTAACTTTGGGAGAAAACTTTTTTTTTTTTTTTTCTGAGACAGGGTCTCACTCTGTCTGTTGCCCAGGCTGGAGTACAGTGGTGCGATCTCAGCTCACTGCAACCTTTGCCTCCCAGGTTCAAGTGATTCTCCCACCTCAGCCTCCTGAGTGGCTGGAAAGCTGGGATTACAGGTGTGAGAGCCACATGCCTGGCTAATTTTTTTTTTTTTTTTGAGACAGTCTTGCTCTATCGCCCAGGCTGGAGTGCAGTGGCATGATCTCAGCTCACTGCAACCTCTGCCTCCTGGGTTCAAGTGATTCTTGTGCTCCAGCCTCCCAAGTAGCTGGGACTACAGGCACATGCCACAATGCCTGGCTGTTTTTGTATTTTTTGGTAGGGATGGGGTTTTGCCATGTTGGCCAAGCTGGTCTCAAACTCCTGGCCTCAAGTGATCCGCCTGCTGCAGCCTCTTAAAGTGCTGGGATTACAGGCATGAGCCACTGTGCCTGACTTTTTTTTCTTTTTCTTTTTTTTTTTTTTTTTTTGAGATGGAGTCTCGCTCTGTGGCCCAGGCTGGAGTGTAGCGGTGCGATCTTGGCTTATCGCAACCTCCACCTCCCAGTTCAAGTGATTCTCCTGCCTCAGCCACCCAAGTAGCTGGGATTACAGGCGCCGGCCACCATGCCTGGCTAATTTTTGTATTTTGAGTAGAGATGGTGTCTCGTCATGTTGACCATCCTGAGGTCAGGAGTCTTGAACTCCTGACCTCAGGTGATCCGCTTGCTCCGGCCTCTCAACATGCTAGGATTACAGGTGTGAGCCACCATGCCTAGCCAGAAATTTATTACAGTTTATAGTTTAAATGATAATAGCCCTTCTCAAAATGAAACTGCCTTTATAAAACTAATAAAAGCGTACAAATTTAGGATTACAAGAGGGGCCTGAATTCTCATGATTACCAATCATTTTTCCAAAGGTCACAAGATTTGCAACTTCCCCAGTTACTCCTGTAAGTAACATCACTATTGTTGAACCTAAGATTGGCTTTTTAAGATGTCTTTTCTGACTTTTGCATTTCTGATGACTGGATGACTCCACTGGGACCAGTGACCCCTCTGTGGCCCCCATCCAAAACTGGGCTCAGCAGAGGACTGGTTTCCACACCCCTATGATTGCATCCCCAACCAATCAGCAGCACTCATTCCCTAGACCCCTGCCCACCAAACCATCCTTGAAAAACCCTAGCCTCAGAATTCTGGGGGAGGCTGATTTGAGTAATAATAAAATTCTGGTTTCCCGTTTAGCTGCCTCTATGTGTATTAAACTCTTTATTGCAATTCTCCCATCTTGATAAATCGTCTCTATCT
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Task1_train_833
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Assess the clinical impact of this variant on gene EIF2B3 (eukaryotic translation initiation factor 2B subunit gamma), found on Chromosome 1. State whether it’s pathogenic or benign, and the disease if applicable.
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Pathogenic; Leukoencephalopathy with vanishing white matter 3
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CTTTGGGAGGCCGAGGCAGGCGGATCACTTGAGCCCTGGAGTTCAAGACCAGCCTGGGCAACATGGCAAAACCTTGTCTCTATAAAAAAACTCCAAAAAACCAGAGGTTTAGGTGGGAGGATTGCTTGAGTCTGGGAGGTGGAGGTTGCAGTGGGCCAAGATCACCCCACTGCACTCCAGCCTGGGTAACAGAGTGAGTCTGTCTCAAAACAAACAAACAAACAAAAAAAAACCTCAGGTCTATATGAATGGTGCCCACACTTTAATATATTATATGCCACTTCTCCTTGATATGAAGAATTCAGAAGAACATTAATCAAAAATACAAATGGGAAGAAATATAAAAAACACTCTGGGAAGCCAAGGCAGGCAGATAACTTCAGCCCAGGAACTCAAGACCAGCCTGGGTAACGTGGCGAAACCCTGTCTCTGCCAAAAAAAAAAAAAAAAAAAAAAGGAGGAAAGAAAAATTATCCAGGTGTGGTGGCATGCATGTAGTTGCAGCTACTCAGGAGGCTAAGATGGGAGGATCGTTTGATCCCAGGAGGCAGAGGTTGCAATGAGCTGAAATCATGCCACTGTACTCCAGCCTTGGACGACAGAGCAAGACTCTGTCTCTAAAAAACAAAAAAACCAAAGGGGGCCATGCGTAGTGGCTCACACCTGTAATTCCAACACTTTGGAAGGCCGAGACAGGCAGATCACTTGAGGTCAGAAGTTCAAGACCAGCCTGGACAACATGGCGAAACCCTGTCTCTATTAAAAATACAAAAAAATTAGCCGGGAGTGGTGGTACACGCCTGTAGTCCCAGGTACTCGGGAGACTGAAGCAGGAGAATTGCTTAAACCTGGGAGGTGGAGGTTGCAGTGAGCTGAGATCACACCACTGTACTCCAGCCTGGGCGACAGGGTGAGACTCCAACATTTTAAATCTTCATTCAATACAAAGAGAGAGCTATTAAGCTACCACCCTTCCTATTGGAGGCAACTCTAATAATGGAATGAACACTGGATCACAAGACTGGGCCTCAGGCTTTGGCACCCTGATTTATTACATCTAAATATAGGACACCTCAAACTCAATGTGACCAAAGCTGAACTCATTATTTTAATGAAAATAAAATTCATTAAAACCTTTTCCTGGCCAGGCACGGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGTGGGCAGATCACGAGGTCCTGAGATCGAGACCATTCTAGCTAACATGGTGAAACCCTGTCTCTACTAAAAATACAAAAACTTAGCCGGGCATGGTGGAAAATGCCTGTAGTCCCAGCTACACAGGAAGCTGAGGCAGGAGAATCACTTGAACCCGGGAGAGGTTGAACCCTGGCGGAGGTTGTAGTGAGCCAAGATCGTGCCACTGCACTCCAGCCTGGGTGGCAGCGTGAGACTCTGTCTCAAAAAAAAAACACCTGTTCCTTGTCTCCTATTCCTTTTCCTACTTAATGGCATAACTATCTACCTAGCTACCCAAGCAAAAAGTAGAGAGGATCACTAGACTTTAAAGTTCTGGAAGTCAGGGCCTGAGCTGTCTTTTCAATTCTGTACCTCCGTGTTTAATATATAACCTGGTACTTACATCAAAACAAAATTTAAAACATATATATATTGAATATCAGATAATATAAATATTACCTGGTACATAATAGATTCTCAGTAAGTACTGACTATGAGGCATTTAAGAGTCTCAATCTGCTCTTTCTGATATCTTTACAGAGTTCGTCTTGGATCATTGTGGACATCAGCTCCATAACAACAACACTTAGTGCTATCCTCTCAACCTTTTTCACACAGCAATAGAGTACTCCTACATTCCTTAAAGAAGGCAGTCTTCAGCCAACGAGTTCTAGTCACCCTCTCTCATTCTCATAACGCTGACAAATCATGGGGATCAAATCTCCTAAAAGTTTTATGAGTTCACAGCTCACTTTGTCATAGCTCACCTTCAAATCCAACACGCTCAAGCAGGTTCAATGGGTACCAAATTAAAGGTTTGTTCCCAACTGGAAGCAGAGGTTTGGGAATGCTGGAAGTTAGGTCTGTCATCCGAGATCCTCCACCTACTGCCATCACTACTGCTTGAAATTCCATTTTTACAAACTGCAAGTACAGAAAAAACAATTAACAGAAAAAAAACAATGTAACAAAAATCAAAGCACACATACTACTAGCCTATTTTTATTTAGGTTACTGATACCCACTATGTCAAATGCATAATTCCTAACTCTAGCAATCACAGTAAGAAAAGCTTAGCTGCAGATAAACATTATGTCTACCAATATGTATTCTCAGTTCTATCCTTGGTAAAAGTGGGAGGATAGGAATGCAGGGGCTTTGCCCTTGAGTTATTCACAATTAAGTGGAGAAGACAAATTCAGTAAATCACAATATATGTCATTAGTGCCACAGCAGAAAAATATCCAAGATACAGTGGGCATACAATAAAAGGAACACCTAGTTTTCATTGAAAACACAGAGAAGTTTTTATAGAAAGTGATGCTTGAGCTGACTCTGAAGAAGTAAGAGTTTACCAAGTGGACTTCTGATGTGTGAATTTTTATTCTTTGAAAATATTAGGCTGGGTGAGGTGGCTCACATCTGTAATCCCAGCACTTTGGGAGGCTGAGGTGTGTGGATCACATGAGCTCAGGAGTTCGAGACCAGCCTGGGCAACATGGCGAGACCCCATCTCTACCAAAAATACAAAAAATTAGCCAGGGGTGGTGGCTTGTGCCTATGGTTCCAGCTACTTGGGAAGCTGAAGTGGGAGGATCATTTGAGCCTGGGAGGCAGGTGTTGCAGTGAGCCGAGATTGAGATTGGACCACTGCACTCCAACCTGTGTGACAGAGTGAGATCCTGTCTCAAAAAAAAAAAAAAAAAAAGAGAGAAAAAAGAAAATATTAAAAGATGCCTGACTAGAATTAACAGCAGAAACACAAGCATGTTAGGCTTCTGAAAAGTATGAAATGACTTAAGACTCCTCCAATAATTCAGCCATCGGCTCATCTTATTCCTCCAATTTTTAAAGATATCACTATAAACACAAACGTAGGCTTGTATCTGAACCTAGATTTACAGAACACAATTATAAAAACAAACCAAACTGTTAATTCCTTTTTTCAAACTCAAGGTAATAAACAAACCTATTTGACTTTGAAAAGAATCTCTTTACAGAAACTACCACAGAACAGAGGCACAGTAGAAGGTCATAAATCTTTATTTATGTATTTATTTTTGGAGATGGAATTTCACTCTTGTTGCCAGGCTGGAGTGCAATGCCGTGATCTCGGCTCACTGCAACCTCCACCTCCCAAGTTCAAGCGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGATCACAGGCATGGGCCACCATGCCTGGCTAATTTTGTATTTTTAGTAGAGATGGGGTTTCACCATGTTGGCCAGGCTGGTCCCAAACTCCTGACCTCAGGTGATCCACCGGAGTCGGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACGTGCCCATCCTATTTATTTATTGTTTATTTAGAGACAGAGTCTTGCTCCATTGCCCAGTCTGGAAGTGCAGTGGTAAGATCATGGCTCACTGCAGCCTCAACCTCCTGCACTAAAGCAATCCTCCTGCCCCAACCTCTGGAGCAGCTGGGACTACAGGTGGGTACCACCATGCCTGGCTTTTTTTTTTTTTTTGAGACGGAGTTTCTCTCTTGTTGCCCAGGCTGAAGTGCAGTGGCACGATCTCAGCTCACCACAACCTCTGCCTCCCAGGTTCAAGTGATTCTCCTGCCTCAGCCTCCCAAAGAGCTGGGATTATAGGCATGCACCACCACGCCCAGCTGCCCAGCTAATTTTGTATTTTTAGTAGAGACAGGGTTTCTCCACATTGGTCAGGCTGGTCTCGAACTCCCAACCTCAGGTGATCTGCCCACCTTGGCCTCCCAAAGTGCTGGGATTACAGGTATGAGCCACTGCACCTGGCCGCCTGGCTAATTCTTTTAATTAATTTTTTATAGAGATGGGGTTTCACTATGCTGCCCAGGCTGGTCT
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CTTTGGGAGGCCGAGGCAGGCGGATCACTTGAGCCCTGGAGTTCAAGACCAGCCTGGGCAACATGGCAAAACCTTGTCTCTATAAAAAAACTCCAAAAAACCAGAGGTTTAGGTGGGAGGATTGCTTGAGTCTGGGAGGTGGAGGTTGCAGTGGGCCAAGATCACCCCACTGCACTCCAGCCTGGGTAACAGAGTGAGTCTGTCTCAAAACAAACAAACAAACAAAAAAAAACCTCAGGTCTATATGAATGGTGCCCACACTTTAATATATTATATGCCACTTCTCCTTGATATGAAGAATTCAGAAGAACATTAATCAAAAATACAAATGGGAAGAAATATAAAAAACACTCTGGGAAGCCAAGGCAGGCAGATAACTTCAGCCCAGGAACTCAAGACCAGCCTGGGTAACGTGGCGAAACCCTGTCTCTGCCAAAAAAAAAAAAAAAAAAAAAAGGAGGAAAGAAAAATTATCCAGGTGTGGTGGCATGCATGTAGTTGCAGCTACTCAGGAGGCTAAGATGGGAGGATCGTTTGATCCCAGGAGGCAGAGGTTGCAATGAGCTGAAATCATGCCACTGTACTCCAGCCTTGGACGACAGAGCAAGACTCTGTCTCTAAAAAACAAAAAAACCAAAGGGGGCCATGCGTAGTGGCTCACACCTGTAATTCCAACACTTTGGAAGGCCGAGACAGGCAGATCACTTGAGGTCAGAAGTTCAAGACCAGCCTGGACAACATGGCGAAACCCTGTCTCTATTAAAAATACAAAAAAATTAGCCGGGAGTGGTGGTACACGCCTGTAGTCCCAGGTACTCGGGAGACTGAAGCAGGAGAATTGCTTAAACCTGGGAGGTGGAGGTTGCAGTGAGCTGAGATCACACCACTGTACTCCAGCCTGGGCGACAGGGTGAGACTCCAACATTTTAAATCTTCATTCAATACAAAGAGAGAGCTATTAAGCTACCACCCTTCCTATTGGAGGCAACTCTAATAATGGAATGAACACTGGATCACAAGACTGGGCCTCAGGCTTTGGCACCCTGATTTATTACATCTAAATATAGGACACCTCAAACTCAATGTGACCAAAGCTGAACTCATTATTTTAATGAAAATAAAATTCATTAAAACCTTTTCCTGGCCAGGCACGGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGTGGGCAGATCACGAGGTCCTGAGATCGAGACCATTCTAGCTAACATGGTGAAACCCTGTCTCTACTAAAAATACAAAAACTTAGCCGGGCATGGTGGAAAATGCCTGTAGTCCCAGCTACACAGGAAGCTGAGGCAGGAGAATCACTTGAACCCGGGAGAGGTTGAACCCTGGCGGAGGTTGTAGTGAGCCAAGATCGTGCCACTGCACTCCAGCCTGGGTGGCAGCGTGAGACTCTGTCTCAAAAAAAAAACACCTGTTCCTTGTCTCCTATTCCTTTTCCTACTTAATGGCATAACTATCTACCTAGCTACCCAAGCAAAAAGTAGAGAGGATCACTAGACTTTAAAGTTCTGGAAGTCAGGGCCTGAGCTGTCTTTTCAATTCTGTACCTCCGTGTTTAATATATAACCTGGTACTTACATCAAAACAAAATTTAAAACATATATATATTGAATATCAGATAATATAAATATTACCTGGTACATAATAGATTCTCAGTAAGTACTGACTATGAGGCATTTAAGAGTCTCAATCTGCTCTTTCTGATATCTTTACAGAGTTCGTCTTGGATCATTGTGGACATCAGCTCCATAACAACAACACTTAGTGCTATCCTCTCAACCTTTTTCACACAGCAATAGAGTACTCCTACATTCCTTAAAGAAGGCAGTCTTCAGCCAACGAGTTCTAGTCACCCTCTCTCATTCTCATAACGCTGACAAATCATGGGGATCAAATCTCCTAAAAGTTTTATGAGTTCACAGCTCACTTTGTCATAGCTCACCTTCAAATCCAACACGCTCAAGCAGGTTCAATGGGTACCAAATTAAAGGTTTGTTCCCAACTGGAAGCTGAGGTTTGGGAATGCTGGAAGTTAGGTCTGTCATCCGAGATCCTCCACCTACTGCCATCACTACTGCTTGAAATTCCATTTTTACAAACTGCAAGTACAGAAAAAACAATTAACAGAAAAAAAACAATGTAACAAAAATCAAAGCACACATACTACTAGCCTATTTTTATTTAGGTTACTGATACCCACTATGTCAAATGCATAATTCCTAACTCTAGCAATCACAGTAAGAAAAGCTTAGCTGCAGATAAACATTATGTCTACCAATATGTATTCTCAGTTCTATCCTTGGTAAAAGTGGGAGGATAGGAATGCAGGGGCTTTGCCCTTGAGTTATTCACAATTAAGTGGAGAAGACAAATTCAGTAAATCACAATATATGTCATTAGTGCCACAGCAGAAAAATATCCAAGATACAGTGGGCATACAATAAAAGGAACACCTAGTTTTCATTGAAAACACAGAGAAGTTTTTATAGAAAGTGATGCTTGAGCTGACTCTGAAGAAGTAAGAGTTTACCAAGTGGACTTCTGATGTGTGAATTTTTATTCTTTGAAAATATTAGGCTGGGTGAGGTGGCTCACATCTGTAATCCCAGCACTTTGGGAGGCTGAGGTGTGTGGATCACATGAGCTCAGGAGTTCGAGACCAGCCTGGGCAACATGGCGAGACCCCATCTCTACCAAAAATACAAAAAATTAGCCAGGGGTGGTGGCTTGTGCCTATGGTTCCAGCTACTTGGGAAGCTGAAGTGGGAGGATCATTTGAGCCTGGGAGGCAGGTGTTGCAGTGAGCCGAGATTGAGATTGGACCACTGCACTCCAACCTGTGTGACAGAGTGAGATCCTGTCTCAAAAAAAAAAAAAAAAAAAGAGAGAAAAAAGAAAATATTAAAAGATGCCTGACTAGAATTAACAGCAGAAACACAAGCATGTTAGGCTTCTGAAAAGTATGAAATGACTTAAGACTCCTCCAATAATTCAGCCATCGGCTCATCTTATTCCTCCAATTTTTAAAGATATCACTATAAACACAAACGTAGGCTTGTATCTGAACCTAGATTTACAGAACACAATTATAAAAACAAACCAAACTGTTAATTCCTTTTTTCAAACTCAAGGTAATAAACAAACCTATTTGACTTTGAAAAGAATCTCTTTACAGAAACTACCACAGAACAGAGGCACAGTAGAAGGTCATAAATCTTTATTTATGTATTTATTTTTGGAGATGGAATTTCACTCTTGTTGCCAGGCTGGAGTGCAATGCCGTGATCTCGGCTCACTGCAACCTCCACCTCCCAAGTTCAAGCGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGATCACAGGCATGGGCCACCATGCCTGGCTAATTTTGTATTTTTAGTAGAGATGGGGTTTCACCATGTTGGCCAGGCTGGTCCCAAACTCCTGACCTCAGGTGATCCACCGGAGTCGGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACGTGCCCATCCTATTTATTTATTGTTTATTTAGAGACAGAGTCTTGCTCCATTGCCCAGTCTGGAAGTGCAGTGGTAAGATCATGGCTCACTGCAGCCTCAACCTCCTGCACTAAAGCAATCCTCCTGCCCCAACCTCTGGAGCAGCTGGGACTACAGGTGGGTACCACCATGCCTGGCTTTTTTTTTTTTTTTGAGACGGAGTTTCTCTCTTGTTGCCCAGGCTGAAGTGCAGTGGCACGATCTCAGCTCACCACAACCTCTGCCTCCCAGGTTCAAGTGATTCTCCTGCCTCAGCCTCCCAAAGAGCTGGGATTATAGGCATGCACCACCACGCCCAGCTGCCCAGCTAATTTTGTATTTTTAGTAGAGACAGGGTTTCTCCACATTGGTCAGGCTGGTCTCGAACTCCCAACCTCAGGTGATCTGCCCACCTTGGCCTCCCAAAGTGCTGGGATTACAGGTATGAGCCACTGCACCTGGCCGCCTGGCTAATTCTTTTAATTAATTTTTTATAGAGATGGGGTTTCACTATGCTGCCCAGGCTGGTCT
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Task1_train_834
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With a mutation on Chromosome 1 in gene UROD (uroporphyrinogen decarboxylase), classify this variant as benign or pathogenic. Include the disease if it's pathogenic.
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Pathogenic; not provided
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AGCGCTGCTGGCAGCGGCCGCCCGGCGCGGAGGCTCCGCGCTGCCTCTGCCAAGAAGCGCACGCGGCCCAGCAGCTGCCGGGGGGACTCCAGCACCGCGCCCGGGCCAGGACCCGCCATGGCGAAGTGGCGGAGGTGAGCACCTAGAGGCGACCCTGCCCGGGGAACAGCTGGCGCGACCGCGGACAGAGCTTCCCACCACGCCCTTCCCCGCCTTTGGCCAGCCTTTGCCGTATGTTCTGGACTAAGCGCACCCCAGCTCTCACTGTATTGGACTGTGTACTCCCACACTCAACCATATTACTTATCTCTGTGCCACCCTAACCCAGCCGACCAAACCCAAGATTGGTGATTGCTACCTGATCAATCTCCCTCTCTCCATTTCCTTGTGACTACCATTTTATCTCTACTGCTACTACCCTCATTCAAGTCACCATTCTAGCTAGCCTGGGTCATTGCCAACAGTCATTTTTCTGGTTCTTCGGCCTGCTGTTTTTCCTCCCACTCCCAGCGAATCTGCTGGACTCCCTATCCTATGGGTGGTGTGATTAAAGTGTTTGAGACAATGGCCCCTTCCCCTGCCACTGACAGGAGTCTTGAGTCATTAGGGTTGATTCTGTTTGTCACTCCTAATCCCAAGGACACTGGAGATCATTATTCATTTTAATGTGATTGCTGATTTCTGTTTCCCCAGTCTTGTAGCTCCTTAAAGGCTGGGGCTGTCTTGAGCAGAGCTAACCTCTGCACCTACTATAGGTCCAGGCTATAGTATGGACCTGGCTGGATAAGACTGTTGGTATCATGAGTGGGACTTGCGCCAAGCCTCCGGATACCCAGACTGTCAGATGAGAACAAATTCCTCATGTCACCGTAAGATACATTTACAGCGGAGTTTTCTTTTGGGCCTTTGTTGTTGCGTCGCTACAGCAAACTTTACGGTGAAAAAAGGTAGGGGTCCTACGGGCAGCAGCCAGGGCAGCCCTGGAGCTGTCGCTGGAGTCCGATCATGTGATCTTCAACATGGCGACGCTCTTGGTTCCCTACAGAAAGGGGCGGAGCCTGGACTGGGGGGCAGGCTCAGATTCAGGTTAAATTGTGGATTGAGCTCGCAGTTACAGACAGCTGACCATGGAAGCGAATGGGTTGGGGTGAGTTCTCCAGAGCACGCGGTGTGGCTAGCCGGGCTTCTAATTTGAGTCTTCCAACTCAGGACTCTATCCCTCTACTCCCCTTTCCCCACCCTGGAGACCTCCCAACCTGAACTCCGTTAGCTGGGATCCTGAATCCTAAAACCATGGATTTTTGAGATGTTCATCCCAGGGCCTTAATTCAAGGGATGCCTCAGGATTTCCAACCAGGATCTCTATTCTGGGACCATCAACTCTGATCCCTCTTTATCCCCCAGCCTGGGTATTTCTCAGCCCCTGAACCAGCCCAGTGACATTCCCGTTTCTGAGGCTCACTAGTTCGAAGACCCCCAAACTATCCTTAGTGGGCCTTCATTCCCTCCCCCCAGTCCCTCTGGTTGCTTCGAGCTTGGAAGAGTAGAGACTAAGTGGAGGGAAGAGGCCCCAGGGCGGGCCCTTCTGGAGTTTGTGCACCACCTGATAGGCAGAGAGGAGGCGGAACGGGCGGAAAGCCAGGGTTTGGGAGCTGGCCTGGAGGAGGTAGATAGCGGTCCTGGACTGAATCGGCCTTATGAACCCGCGCTTTCCCCAGCCTCCAGCGTAGCATACTGACACCTACCCCCACCCCCACCTGATCGCCAGACCTCAGGGTTTTCCGGAGCTGAAGAATGACACATTCCTGCGAGCAGCCTGGGGAGAGGAAACAGACTACACTCCCGTTTGGTGCATGCGCCAGGCAGGCCGTTACTTACCAGGTAAGAGTCAGGGTCTGGAAATCTAGATAAAACTCCGGAGGGAGAAAAGTTTTCGAGGGGCAGGGGAGGGCTCTGGAGGGCCTCAAGGCTGAGCCCTGTCTTCCCTCTGTATGCAGAGTTTAGGGAAACCCGGGCTGCCCAGGACTTTTTCAGCACGTGTCGCTCTCCTGAGGCCTGCTGTGAACTGACTCTGCAGGTGAGGGGTCCACAAAAGAGGGAAAGATTTATGCCTTCAGTCTGCCACCTAGCAACCTGTCTCCTGTTTCCTACAGCCACTGCGTCGCTTCCCTCTGGATGCTGCCATCATTTTCTCCGACATCCTTGTTGTACCCCAGGTACCCACTCAAACCTGATCCTAGAATATAATCCAAGGACGCCTTGAAAATCCTTCTATCAGTCCAGTCAAGGTTTACAATAAGCACTTATCCTAACTGGATCGAGGGAAAAACTAAGGTTGAAAGAAATGGAGTTTGGCAGAGTTTTATTCTCCTTTTCCTTCCTCCTGGAATGAGCTGAACAGAACCTTTCCTCCTGGATTCCATTTTGGGAACCCAGATGTTTTCTCCCCCTCCAGGCACTGGGCATGGAGGTGACCATGGTACCTGGCAAAGGACCCAGCTTCCCAGAGCCATTAAGAGAAGAGCAGGACCTAGAACGCCTACGGGATCCAGAAGTGGTAGCCTCTGAGCTAGGCTATGTGTTCCAAGCCATCACCCTTACCCGACAACGACTGGCTGGACGTGTGCCGCTGATTGGCTTTGCTGGTGCCCCAGTAATGTGGGACAGGGCAGGGACTCGGGGCGCGGGGAGATCACTCTGGAAGGTCTGGGGTAGACAAAAGGAAGGGTCAGTCTGGCTTCTGTGACACCATCTTTCTATCCTTCTCTAGTGGACCCTGATGACATACATGGTTGAGGGTGGTGGCTCAAGCACCATGGCTCAGGCCAAGCGCTGGCTCTATCAGAGACCTCAGGCTAGTCACCAGCTGCTTCGCATCCTCACTGATGCTCTGGTCCCATATCTGGTAGGACAAGTGGTGGCTGGTGCCCAGGTGAGTCCTGAGAGAGAGAGAAATAGGCTGGGATTTGGTCTGTAAGGACCAGAAGCAAGAGTGTCCTAAACCTGAGAGGGCAGGGGTCTTAATGCCAGGGATGAAAGAACCTTGGCCTCCAGTGATCTAGCGGAGCAGCCAAGCCCATCCTGACACTGACAGTGGGGCTTAATGCTCTAAGTATTCAGACACCAAAGTTAGTGCTGGGATCTGAGGAAAGTAAATTTTTTTTTTTTTAATTACTGGGTTTTTAGGGTCAGGCAGTATCAGGGATTGAAGTCATTTGGGGAAAATTGAGGTGGATTTTGTATGTGGGGGAAACTTCCTCTTTGTGTGTTACATATTTTTCTTCACCATACCCTAACTAGGCATTGCAGCTGTTTGAGTCCCATGCAGGGCATCTTGGCCCACAGCTCTTCAACAAGTTTGCACTGCCTTACATCCGTGATGTGGCCAAGCAAGTGAAGGCCAGGTTGCGGGAGGCAGGCCTGGCACCAGTGCCCATGGTGAGGATTGGGATGGGTTGAGTGAAGGTGGTCCTGTGGAGCTTTCAGGCTAAGTCCTGCATGGACTGGAGTGACCACTGGAGGGCAGCAGAAGTACAGTCAAGAAAGATTAGTGGTTGTAGCAAGGCCCTCTGTAGCCTGAGATCTGCTTTTTTCTAGATCATCTTTGCTAAGGATGGGCATTTTGCCCTGGAGGAGCTGGCCCAAGCTGGCTATGAGGTGGTTGGGCTTGACTGGACAGTGGCCCCAAAGAAAGCCCGGTAAGCCATGGAAGGGTGAGGCCTTGAGGTTGAGGTGGGGGTGTTGGCTGGGGGAGCTGCCATGTATGCAGTTACCAGAACGTGGCGCTGGCTTTGCTTCCAGGGAGTGTGTGGGGAAGACGGTGACATTGCAGGGCAACCTGGACCCCTGTGCCTTGTATGCATCTGAGGTAACAGCCAGGGCCCCTCTGTGTGTCTGTTACTGTGCACTCCTGTGGCTGTGGCTGTATTATTCTGTGTGCACTTGTTTTTAATGTCTGTCTGTCCTTTTCTTCTACTCTGTACAACATAAGCCCTAGAAAGACCGGACTTTTTGTTGCTGTTGTTCATTTGTGTTTATGCTTCATGCCTGGGTCCATACTAGGGATCTGATAAATTTTATTGAATGACTGAATAAC
|
AGCGCTGCTGGCAGCGGCCGCCCGGCGCGGAGGCTCCGCGCTGCCTCTGCCAAGAAGCGCACGCGGCCCAGCAGCTGCCGGGGGGACTCCAGCACCGCGCCCGGGCCAGGACCCGCCATGGCGAAGTGGCGGAGGTGAGCACCTAGAGGCGACCCTGCCCGGGGAACAGCTGGCGCGACCGCGGACAGAGCTTCCCACCACGCCCTTCCCCGCCTTTGGCCAGCCTTTGCCGTATGTTCTGGACTAAGCGCACCCCAGCTCTCACTGTATTGGACTGTGTACTCCCACACTCAACCATATTACTTATCTCTGTGCCACCCTAACCCAGCCGACCAAACCCAAGATTGGTGATTGCTACCTGATCAATCTCCCTCTCTCCATTTCCTTGTGACTACCATTTTATCTCTACTGCTACTACCCTCATTCAAGTCACCATTCTAGCTAGCCTGGGTCATTGCCAACAGTCATTTTTCTGGTTCTTCGGCCTGCTGTTTTTCCTCCCACTCCCAGCGAATCTGCTGGACTCCCTATCCTATGGGTGGTGTGATTAAAGTGTTTGAGACAATGGCCCCTTCCCCTGCCACTGACAGGAGTCTTGAGTCATTAGGGTTGATTCTGTTTGTCACTCCTAATCCCAAGGACACTGGAGATCATTATTCATTTTAATGTGATTGCTGATTTCTGTTTCCCCAGTCTTGTAGCTCCTTAAAGGCTGGGGCTGTCTTGAGCAGAGCTAACCTCTGCACCTACTATAGGTCCAGGCTATAGTATGGACCTGGCTGGATAAGACTGTTGGTATCATGAGTGGGACTTGCGCCAAGCCTCCGGATACCCAGACTGTCAGATGAGAACAAATTCCTCATGTCACCGTAAGATACATTTACAGCGGAGTTTTCTTTTGGGCCTTTGTTGTTGCGTCGCTACAGCAAACTTTACGGTGAAAAAAGGTAGGGGTCCTACGGGCAGCAGCCAGGGCAGCCCTGGAGCTGTCGCTGGAGTCCGATCATGTGATCTTCAACATGGCGACGCTCTTGGTTCCCTACAGAAAGGGGCGGAGCCTGGACTGGGGGGCAGGCTCAGATTCAGGTTAAATTGTGGATTGAGCTCGCAGTTACAGACAGCTGACCATGGAAGCGAATGGGTTGGGGTGAGTTCTCCAGAGCACGCGGTGTGGCTAGCCGGGCTTCTAATTTGAGTCTTCCAACTCAGGACTCTATCCCTCTACTCCCCTTTCCCCACCCTGGAGACCTCCCAACCTGAACTCCGTTAGCTGGGATCCTGAATCCTAAAACCATGGATTTTTGAGATGTTCATCCCAGGGCCTTAATTCAAGGGATGCCTCAGGATTTCCAACCAGGATCTCTATTCTGGGACCATCAACTCTGATCCCTCTTTATCCCCCAGCCTGGGTATTTCTCAGCCCCTGAACCAGCCCAGTGACATTCCCGTTTCTGAGGCTCACTAGTTCGAAGACCCCCAAACTATCCTTAGTGGGCCTTCATTCCCTCCCCCCAGTCCCTCTGGTTGCTTCGAGCTTGGAAGAGTAGAGACTAAGTGGAGGGAAGAGGCCCCAGGGCGGGCCCTTCTGGAGTTTGTGCACCACCTGATAGGCAGAGAGGAGGCGGAACGGGCGGAAAGCCAGGGTTTGGGAGCTGGCCTGGAGGAGGTAGATAGCGGTCCTGGACTGAATCGGCCTTATGAACCCGCGCTTTCCCCAGCCTCCAGCGTAGCATACTGACACCTACCCCCACCCCCACCTGATCGCCAGACCTCAGGGTTTTCCGGAGCTGAAGAATGACACATTCCTGCGAGCAGCCTGGGGAGAGGAAACAGACTACACTCCCGTTTGGTGCATGCGCCAGGCAGGCCGTTACTTACCAGGTAAGAGTCAGGGTCTGGAAATCTAGATAAAACTCCGGAGGGAGAAAAGTTTTCGAGGGGCAGGGGAGGGCTCTGGAGGGCCTCAAGGCTGAGCCCTGTCTTCCCTCTGTATGCAGAGTTTAGGGAAACCCGGGCTGCCCAGGACTTTTTCAGCACGTGTCGCTCTCTTGAGGCCTGCTGTGAACTGACTCTGCAGGTGAGGGGTCCACAAAAGAGGGAAAGATTTATGCCTTCAGTCTGCCACCTAGCAACCTGTCTCCTGTTTCCTACAGCCACTGCGTCGCTTCCCTCTGGATGCTGCCATCATTTTCTCCGACATCCTTGTTGTACCCCAGGTACCCACTCAAACCTGATCCTAGAATATAATCCAAGGACGCCTTGAAAATCCTTCTATCAGTCCAGTCAAGGTTTACAATAAGCACTTATCCTAACTGGATCGAGGGAAAAACTAAGGTTGAAAGAAATGGAGTTTGGCAGAGTTTTATTCTCCTTTTCCTTCCTCCTGGAATGAGCTGAACAGAACCTTTCCTCCTGGATTCCATTTTGGGAACCCAGATGTTTTCTCCCCCTCCAGGCACTGGGCATGGAGGTGACCATGGTACCTGGCAAAGGACCCAGCTTCCCAGAGCCATTAAGAGAAGAGCAGGACCTAGAACGCCTACGGGATCCAGAAGTGGTAGCCTCTGAGCTAGGCTATGTGTTCCAAGCCATCACCCTTACCCGACAACGACTGGCTGGACGTGTGCCGCTGATTGGCTTTGCTGGTGCCCCAGTAATGTGGGACAGGGCAGGGACTCGGGGCGCGGGGAGATCACTCTGGAAGGTCTGGGGTAGACAAAAGGAAGGGTCAGTCTGGCTTCTGTGACACCATCTTTCTATCCTTCTCTAGTGGACCCTGATGACATACATGGTTGAGGGTGGTGGCTCAAGCACCATGGCTCAGGCCAAGCGCTGGCTCTATCAGAGACCTCAGGCTAGTCACCAGCTGCTTCGCATCCTCACTGATGCTCTGGTCCCATATCTGGTAGGACAAGTGGTGGCTGGTGCCCAGGTGAGTCCTGAGAGAGAGAGAAATAGGCTGGGATTTGGTCTGTAAGGACCAGAAGCAAGAGTGTCCTAAACCTGAGAGGGCAGGGGTCTTAATGCCAGGGATGAAAGAACCTTGGCCTCCAGTGATCTAGCGGAGCAGCCAAGCCCATCCTGACACTGACAGTGGGGCTTAATGCTCTAAGTATTCAGACACCAAAGTTAGTGCTGGGATCTGAGGAAAGTAAATTTTTTTTTTTTTAATTACTGGGTTTTTAGGGTCAGGCAGTATCAGGGATTGAAGTCATTTGGGGAAAATTGAGGTGGATTTTGTATGTGGGGGAAACTTCCTCTTTGTGTGTTACATATTTTTCTTCACCATACCCTAACTAGGCATTGCAGCTGTTTGAGTCCCATGCAGGGCATCTTGGCCCACAGCTCTTCAACAAGTTTGCACTGCCTTACATCCGTGATGTGGCCAAGCAAGTGAAGGCCAGGTTGCGGGAGGCAGGCCTGGCACCAGTGCCCATGGTGAGGATTGGGATGGGTTGAGTGAAGGTGGTCCTGTGGAGCTTTCAGGCTAAGTCCTGCATGGACTGGAGTGACCACTGGAGGGCAGCAGAAGTACAGTCAAGAAAGATTAGTGGTTGTAGCAAGGCCCTCTGTAGCCTGAGATCTGCTTTTTTCTAGATCATCTTTGCTAAGGATGGGCATTTTGCCCTGGAGGAGCTGGCCCAAGCTGGCTATGAGGTGGTTGGGCTTGACTGGACAGTGGCCCCAAAGAAAGCCCGGTAAGCCATGGAAGGGTGAGGCCTTGAGGTTGAGGTGGGGGTGTTGGCTGGGGGAGCTGCCATGTATGCAGTTACCAGAACGTGGCGCTGGCTTTGCTTCCAGGGAGTGTGTGGGGAAGACGGTGACATTGCAGGGCAACCTGGACCCCTGTGCCTTGTATGCATCTGAGGTAACAGCCAGGGCCCCTCTGTGTGTCTGTTACTGTGCACTCCTGTGGCTGTGGCTGTATTATTCTGTGTGCACTTGTTTTTAATGTCTGTCTGTCCTTTTCTTCTACTCTGTACAACATAAGCCCTAGAAAGACCGGACTTTTTGTTGCTGTTGTTCATTTGTGTTTATGCTTCATGCCTGGGTCCATACTAGGGATCTGATAAATTTTATTGAATGACTGAATAAC
|
Task1_train_835
|
This variant impacts the gene UROD (uroporphyrinogen decarboxylase) on Chromosome 1. Is the change likely to result in a pathogenic outcome?
|
Pathogenic; not provided
|
CGGAGGTGAGCACCTAGAGGCGACCCTGCCCGGGGAACAGCTGGCGCGACCGCGGACAGAGCTTCCCACCACGCCCTTCCCCGCCTTTGGCCAGCCTTTGCCGTATGTTCTGGACTAAGCGCACCCCAGCTCTCACTGTATTGGACTGTGTACTCCCACACTCAACCATATTACTTATCTCTGTGCCACCCTAACCCAGCCGACCAAACCCAAGATTGGTGATTGCTACCTGATCAATCTCCCTCTCTCCATTTCCTTGTGACTACCATTTTATCTCTACTGCTACTACCCTCATTCAAGTCACCATTCTAGCTAGCCTGGGTCATTGCCAACAGTCATTTTTCTGGTTCTTCGGCCTGCTGTTTTTCCTCCCACTCCCAGCGAATCTGCTGGACTCCCTATCCTATGGGTGGTGTGATTAAAGTGTTTGAGACAATGGCCCCTTCCCCTGCCACTGACAGGAGTCTTGAGTCATTAGGGTTGATTCTGTTTGTCACTCCTAATCCCAAGGACACTGGAGATCATTATTCATTTTAATGTGATTGCTGATTTCTGTTTCCCCAGTCTTGTAGCTCCTTAAAGGCTGGGGCTGTCTTGAGCAGAGCTAACCTCTGCACCTACTATAGGTCCAGGCTATAGTATGGACCTGGCTGGATAAGACTGTTGGTATCATGAGTGGGACTTGCGCCAAGCCTCCGGATACCCAGACTGTCAGATGAGAACAAATTCCTCATGTCACCGTAAGATACATTTACAGCGGAGTTTTCTTTTGGGCCTTTGTTGTTGCGTCGCTACAGCAAACTTTACGGTGAAAAAAGGTAGGGGTCCTACGGGCAGCAGCCAGGGCAGCCCTGGAGCTGTCGCTGGAGTCCGATCATGTGATCTTCAACATGGCGACGCTCTTGGTTCCCTACAGAAAGGGGCGGAGCCTGGACTGGGGGGCAGGCTCAGATTCAGGTTAAATTGTGGATTGAGCTCGCAGTTACAGACAGCTGACCATGGAAGCGAATGGGTTGGGGTGAGTTCTCCAGAGCACGCGGTGTGGCTAGCCGGGCTTCTAATTTGAGTCTTCCAACTCAGGACTCTATCCCTCTACTCCCCTTTCCCCACCCTGGAGACCTCCCAACCTGAACTCCGTTAGCTGGGATCCTGAATCCTAAAACCATGGATTTTTGAGATGTTCATCCCAGGGCCTTAATTCAAGGGATGCCTCAGGATTTCCAACCAGGATCTCTATTCTGGGACCATCAACTCTGATCCCTCTTTATCCCCCAGCCTGGGTATTTCTCAGCCCCTGAACCAGCCCAGTGACATTCCCGTTTCTGAGGCTCACTAGTTCGAAGACCCCCAAACTATCCTTAGTGGGCCTTCATTCCCTCCCCCCAGTCCCTCTGGTTGCTTCGAGCTTGGAAGAGTAGAGACTAAGTGGAGGGAAGAGGCCCCAGGGCGGGCCCTTCTGGAGTTTGTGCACCACCTGATAGGCAGAGAGGAGGCGGAACGGGCGGAAAGCCAGGGTTTGGGAGCTGGCCTGGAGGAGGTAGATAGCGGTCCTGGACTGAATCGGCCTTATGAACCCGCGCTTTCCCCAGCCTCCAGCGTAGCATACTGACACCTACCCCCACCCCCACCTGATCGCCAGACCTCAGGGTTTTCCGGAGCTGAAGAATGACACATTCCTGCGAGCAGCCTGGGGAGAGGAAACAGACTACACTCCCGTTTGGTGCATGCGCCAGGCAGGCCGTTACTTACCAGGTAAGAGTCAGGGTCTGGAAATCTAGATAAAACTCCGGAGGGAGAAAAGTTTTCGAGGGGCAGGGGAGGGCTCTGGAGGGCCTCAAGGCTGAGCCCTGTCTTCCCTCTGTATGCAGAGTTTAGGGAAACCCGGGCTGCCCAGGACTTTTTCAGCACGTGTCGCTCTCCTGAGGCCTGCTGTGAACTGACTCTGCAGGTGAGGGGTCCACAAAAGAGGGAAAGATTTATGCCTTCAGTCTGCCACCTAGCAACCTGTCTCCTGTTTCCTACAGCCACTGCGTCGCTTCCCTCTGGATGCTGCCATCATTTTCTCCGACATCCTTGTTGTACCCCAGGTACCCACTCAAACCTGATCCTAGAATATAATCCAAGGACGCCTTGAAAATCCTTCTATCAGTCCAGTCAAGGTTTACAATAAGCACTTATCCTAACTGGATCGAGGGAAAAACTAAGGTTGAAAGAAATGGAGTTTGGCAGAGTTTTATTCTCCTTTTCCTTCCTCCTGGAATGAGCTGAACAGAACCTTTCCTCCTGGATTCCATTTTGGGAACCCAGATGTTTTCTCCCCCTCCAGGCACTGGGCATGGAGGTGACCATGGTACCTGGCAAAGGACCCAGCTTCCCAGAGCCATTAAGAGAAGAGCAGGACCTAGAACGCCTACGGGATCCAGAAGTGGTAGCCTCTGAGCTAGGCTATGTGTTCCAAGCCATCACCCTTACCCGACAACGACTGGCTGGACGTGTGCCGCTGATTGGCTTTGCTGGTGCCCCAGTAATGTGGGACAGGGCAGGGACTCGGGGCGCGGGGAGATCACTCTGGAAGGTCTGGGGTAGACAAAAGGAAGGGTCAGTCTGGCTTCTGTGACACCATCTTTCTATCCTTCTCTAGTGGACCCTGATGACATACATGGTTGAGGGTGGTGGCTCAAGCACCATGGCTCAGGCCAAGCGCTGGCTCTATCAGAGACCTCAGGCTAGTCACCAGCTGCTTCGCATCCTCACTGATGCTCTGGTCCCATATCTGGTAGGACAAGTGGTGGCTGGTGCCCAGGTGAGTCCTGAGAGAGAGAGAAATAGGCTGGGATTTGGTCTGTAAGGACCAGAAGCAAGAGTGTCCTAAACCTGAGAGGGCAGGGGTCTTAATGCCAGGGATGAAAGAACCTTGGCCTCCAGTGATCTAGCGGAGCAGCCAAGCCCATCCTGACACTGACAGTGGGGCTTAATGCTCTAAGTATTCAGACACCAAAGTTAGTGCTGGGATCTGAGGAAAGTAAATTTTTTTTTTTTTAATTACTGGGTTTTTAGGGTCAGGCAGTATCAGGGATTGAAGTCATTTGGGGAAAATTGAGGTGGATTTTGTATGTGGGGGAAACTTCCTCTTTGTGTGTTACATATTTTTCTTCACCATACCCTAACTAGGCATTGCAGCTGTTTGAGTCCCATGCAGGGCATCTTGGCCCACAGCTCTTCAACAAGTTTGCACTGCCTTACATCCGTGATGTGGCCAAGCAAGTGAAGGCCAGGTTGCGGGAGGCAGGCCTGGCACCAGTGCCCATGGTGAGGATTGGGATGGGTTGAGTGAAGGTGGTCCTGTGGAGCTTTCAGGCTAAGTCCTGCATGGACTGGAGTGACCACTGGAGGGCAGCAGAAGTACAGTCAAGAAAGATTAGTGGTTGTAGCAAGGCCCTCTGTAGCCTGAGATCTGCTTTTTTCTAGATCATCTTTGCTAAGGATGGGCATTTTGCCCTGGAGGAGCTGGCCCAAGCTGGCTATGAGGTGGTTGGGCTTGACTGGACAGTGGCCCCAAAGAAAGCCCGGTAAGCCATGGAAGGGTGAGGCCTTGAGGTTGAGGTGGGGGTGTTGGCTGGGGGAGCTGCCATGTATGCAGTTACCAGAACGTGGCGCTGGCTTTGCTTCCAGGGAGTGTGTGGGGAAGACGGTGACATTGCAGGGCAACCTGGACCCCTGTGCCTTGTATGCATCTGAGGTAACAGCCAGGGCCCCTCTGTGTGTCTGTTACTGTGCACTCCTGTGGCTGTGGCTGTATTATTCTGTGTGCACTTGTTTTTAATGTCTGTCTGTCCTTTTCTTCTACTCTGTACAACATAAGCCCTAGAAAGACCGGACTTTTTGTTGCTGTTGTTCATTTGTGTTTATGCTTCATGCCTGGGTCCATACTAGGGATCTGATAAATTTTATTGAATGACTGAATAACACTGAGTAGAAGCATGCCTACATATGCGTTTGTCACTAGTATATATAGGGAGGACAAAGGCTTGCTGGTCCTCCTGTAGCCAGTGCCCTGTTGGTCCCCCAGGAGGAGATCGGGCAGTTGGTGAAGCAG
|
CGGAGGTGAGCACCTAGAGGCGACCCTGCCCGGGGAACAGCTGGCGCGACCGCGGACAGAGCTTCCCACCACGCCCTTCCCCGCCTTTGGCCAGCCTTTGCCGTATGTTCTGGACTAAGCGCACCCCAGCTCTCACTGTATTGGACTGTGTACTCCCACACTCAACCATATTACTTATCTCTGTGCCACCCTAACCCAGCCGACCAAACCCAAGATTGGTGATTGCTACCTGATCAATCTCCCTCTCTCCATTTCCTTGTGACTACCATTTTATCTCTACTGCTACTACCCTCATTCAAGTCACCATTCTAGCTAGCCTGGGTCATTGCCAACAGTCATTTTTCTGGTTCTTCGGCCTGCTGTTTTTCCTCCCACTCCCAGCGAATCTGCTGGACTCCCTATCCTATGGGTGGTGTGATTAAAGTGTTTGAGACAATGGCCCCTTCCCCTGCCACTGACAGGAGTCTTGAGTCATTAGGGTTGATTCTGTTTGTCACTCCTAATCCCAAGGACACTGGAGATCATTATTCATTTTAATGTGATTGCTGATTTCTGTTTCCCCAGTCTTGTAGCTCCTTAAAGGCTGGGGCTGTCTTGAGCAGAGCTAACCTCTGCACCTACTATAGGTCCAGGCTATAGTATGGACCTGGCTGGATAAGACTGTTGGTATCATGAGTGGGACTTGCGCCAAGCCTCCGGATACCCAGACTGTCAGATGAGAACAAATTCCTCATGTCACCGTAAGATACATTTACAGCGGAGTTTTCTTTTGGGCCTTTGTTGTTGCGTCGCTACAGCAAACTTTACGGTGAAAAAAGGTAGGGGTCCTACGGGCAGCAGCCAGGGCAGCCCTGGAGCTGTCGCTGGAGTCCGATCATGTGATCTTCAACATGGCGACGCTCTTGGTTCCCTACAGAAAGGGGCGGAGCCTGGACTGGGGGGCAGGCTCAGATTCAGGTTAAATTGTGGATTGAGCTCGCAGTTACAGACAGCTGACCATGGAAGCGAATGGGTTGGGGTGAGTTCTCCAGAGCACGCGGTGTGGCTAGCCGGGCTTCTAATTTGAGTCTTCCAACTCAGGACTCTATCCCTCTACTCCCCTTTCCCCACCCTGGAGACCTCCCAACCTGAACTCCGTTAGCTGGGATCCTGAATCCTAAAACCATGGATTTTTGAGATGTTCATCCCAGGGCCTTAATTCAAGGGATGCCTCAGGATTTCCAACCAGGATCTCTATTCTGGGACCATCAACTCTGATCCCTCTTTATCCCCCAGCCTGGGTATTTCTCAGCCCCTGAACCAGCCCAGTGACATTCCCGTTTCTGAGGCTCACTAGTTCGAAGACCCCCAAACTATCCTTAGTGGGCCTTCATTCCCTCCCCCCAGTCCCTCTGGTTGCTTCGAGCTTGGAAGAGTAGAGACTAAGTGGAGGGAAGAGGCCCCAGGGCGGGCCCTTCTGGAGTTTGTGCACCACCTGATAGGCAGAGAGGAGGCGGAACGGGCGGAAAGCCAGGGTTTGGGAGCTGGCCTGGAGGAGGTAGATAGCGGTCCTGGACTGAATCGGCCTTATGAACCCGCGCTTTCCCCAGCCTCCAGCGTAGCATACTGACACCTACCCCCACCCCCACCTGATCGCCAGACCTCAGGGTTTTCCGGAGCTGAAGAATGACACATTCCTGCGAGCAGCCTGGGGAGAGGAAACAGACTACACTCCCGTTTGGTGCATGCGCCAGGCAGGCCGTTACTTACCAGGTAAGAGTCAGGGTCTGGAAATCTAGATAAAACTCCGGAGGGAGAAAAGTTTTCGAGGGGCAGGGGAGGGCTCTGGAGGGCCTCAAGGCTGAGCCCTGTCTTCCCTCTGTATGCAGAGTTTAGGGAAACCCGGGCTGCCCAGGACTTTTTCAGCACGTGTCGCTCTCCTGAGGCCTGCTGTGAACTGACTCTGCAGGTGAGGGGTCCACAAAAGAGGGAAAGATTTATGCCTTCAGTCTGCCACCTAGCAACCTGTCTCCTGTTTCCTACAGCCACTGCGTCGCTTCCCTCTGGATTCTGCCATCATTTTCTCCGACATCCTTGTTGTACCCCAGGTACCCACTCAAACCTGATCCTAGAATATAATCCAAGGACGCCTTGAAAATCCTTCTATCAGTCCAGTCAAGGTTTACAATAAGCACTTATCCTAACTGGATCGAGGGAAAAACTAAGGTTGAAAGAAATGGAGTTTGGCAGAGTTTTATTCTCCTTTTCCTTCCTCCTGGAATGAGCTGAACAGAACCTTTCCTCCTGGATTCCATTTTGGGAACCCAGATGTTTTCTCCCCCTCCAGGCACTGGGCATGGAGGTGACCATGGTACCTGGCAAAGGACCCAGCTTCCCAGAGCCATTAAGAGAAGAGCAGGACCTAGAACGCCTACGGGATCCAGAAGTGGTAGCCTCTGAGCTAGGCTATGTGTTCCAAGCCATCACCCTTACCCGACAACGACTGGCTGGACGTGTGCCGCTGATTGGCTTTGCTGGTGCCCCAGTAATGTGGGACAGGGCAGGGACTCGGGGCGCGGGGAGATCACTCTGGAAGGTCTGGGGTAGACAAAAGGAAGGGTCAGTCTGGCTTCTGTGACACCATCTTTCTATCCTTCTCTAGTGGACCCTGATGACATACATGGTTGAGGGTGGTGGCTCAAGCACCATGGCTCAGGCCAAGCGCTGGCTCTATCAGAGACCTCAGGCTAGTCACCAGCTGCTTCGCATCCTCACTGATGCTCTGGTCCCATATCTGGTAGGACAAGTGGTGGCTGGTGCCCAGGTGAGTCCTGAGAGAGAGAGAAATAGGCTGGGATTTGGTCTGTAAGGACCAGAAGCAAGAGTGTCCTAAACCTGAGAGGGCAGGGGTCTTAATGCCAGGGATGAAAGAACCTTGGCCTCCAGTGATCTAGCGGAGCAGCCAAGCCCATCCTGACACTGACAGTGGGGCTTAATGCTCTAAGTATTCAGACACCAAAGTTAGTGCTGGGATCTGAGGAAAGTAAATTTTTTTTTTTTTAATTACTGGGTTTTTAGGGTCAGGCAGTATCAGGGATTGAAGTCATTTGGGGAAAATTGAGGTGGATTTTGTATGTGGGGGAAACTTCCTCTTTGTGTGTTACATATTTTTCTTCACCATACCCTAACTAGGCATTGCAGCTGTTTGAGTCCCATGCAGGGCATCTTGGCCCACAGCTCTTCAACAAGTTTGCACTGCCTTACATCCGTGATGTGGCCAAGCAAGTGAAGGCCAGGTTGCGGGAGGCAGGCCTGGCACCAGTGCCCATGGTGAGGATTGGGATGGGTTGAGTGAAGGTGGTCCTGTGGAGCTTTCAGGCTAAGTCCTGCATGGACTGGAGTGACCACTGGAGGGCAGCAGAAGTACAGTCAAGAAAGATTAGTGGTTGTAGCAAGGCCCTCTGTAGCCTGAGATCTGCTTTTTTCTAGATCATCTTTGCTAAGGATGGGCATTTTGCCCTGGAGGAGCTGGCCCAAGCTGGCTATGAGGTGGTTGGGCTTGACTGGACAGTGGCCCCAAAGAAAGCCCGGTAAGCCATGGAAGGGTGAGGCCTTGAGGTTGAGGTGGGGGTGTTGGCTGGGGGAGCTGCCATGTATGCAGTTACCAGAACGTGGCGCTGGCTTTGCTTCCAGGGAGTGTGTGGGGAAGACGGTGACATTGCAGGGCAACCTGGACCCCTGTGCCTTGTATGCATCTGAGGTAACAGCCAGGGCCCCTCTGTGTGTCTGTTACTGTGCACTCCTGTGGCTGTGGCTGTATTATTCTGTGTGCACTTGTTTTTAATGTCTGTCTGTCCTTTTCTTCTACTCTGTACAACATAAGCCCTAGAAAGACCGGACTTTTTGTTGCTGTTGTTCATTTGTGTTTATGCTTCATGCCTGGGTCCATACTAGGGATCTGATAAATTTTATTGAATGACTGAATAACACTGAGTAGAAGCATGCCTACATATGCGTTTGTCACTAGTATATATAGGGAGGACAAAGGCTTGCTGGTCCTCCTGTAGCCAGTGCCCTGTTGGTCCCCCAGGAGGAGATCGGGCAGTTGGTGAAGCAG
|
Task1_train_836
|
The gene UROD (uroporphyrinogen decarboxylase) on Chromosome 1 carries this variant. Does this mutation lead to a specific disease, or is it non-pathogenic?
|
Pathogenic; not provided
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TGCACCTACTATAGGTCCAGGCTATAGTATGGACCTGGCTGGATAAGACTGTTGGTATCATGAGTGGGACTTGCGCCAAGCCTCCGGATACCCAGACTGTCAGATGAGAACAAATTCCTCATGTCACCGTAAGATACATTTACAGCGGAGTTTTCTTTTGGGCCTTTGTTGTTGCGTCGCTACAGCAAACTTTACGGTGAAAAAAGGTAGGGGTCCTACGGGCAGCAGCCAGGGCAGCCCTGGAGCTGTCGCTGGAGTCCGATCATGTGATCTTCAACATGGCGACGCTCTTGGTTCCCTACAGAAAGGGGCGGAGCCTGGACTGGGGGGCAGGCTCAGATTCAGGTTAAATTGTGGATTGAGCTCGCAGTTACAGACAGCTGACCATGGAAGCGAATGGGTTGGGGTGAGTTCTCCAGAGCACGCGGTGTGGCTAGCCGGGCTTCTAATTTGAGTCTTCCAACTCAGGACTCTATCCCTCTACTCCCCTTTCCCCACCCTGGAGACCTCCCAACCTGAACTCCGTTAGCTGGGATCCTGAATCCTAAAACCATGGATTTTTGAGATGTTCATCCCAGGGCCTTAATTCAAGGGATGCCTCAGGATTTCCAACCAGGATCTCTATTCTGGGACCATCAACTCTGATCCCTCTTTATCCCCCAGCCTGGGTATTTCTCAGCCCCTGAACCAGCCCAGTGACATTCCCGTTTCTGAGGCTCACTAGTTCGAAGACCCCCAAACTATCCTTAGTGGGCCTTCATTCCCTCCCCCCAGTCCCTCTGGTTGCTTCGAGCTTGGAAGAGTAGAGACTAAGTGGAGGGAAGAGGCCCCAGGGCGGGCCCTTCTGGAGTTTGTGCACCACCTGATAGGCAGAGAGGAGGCGGAACGGGCGGAAAGCCAGGGTTTGGGAGCTGGCCTGGAGGAGGTAGATAGCGGTCCTGGACTGAATCGGCCTTATGAACCCGCGCTTTCCCCAGCCTCCAGCGTAGCATACTGACACCTACCCCCACCCCCACCTGATCGCCAGACCTCAGGGTTTTCCGGAGCTGAAGAATGACACATTCCTGCGAGCAGCCTGGGGAGAGGAAACAGACTACACTCCCGTTTGGTGCATGCGCCAGGCAGGCCGTTACTTACCAGGTAAGAGTCAGGGTCTGGAAATCTAGATAAAACTCCGGAGGGAGAAAAGTTTTCGAGGGGCAGGGGAGGGCTCTGGAGGGCCTCAAGGCTGAGCCCTGTCTTCCCTCTGTATGCAGAGTTTAGGGAAACCCGGGCTGCCCAGGACTTTTTCAGCACGTGTCGCTCTCCTGAGGCCTGCTGTGAACTGACTCTGCAGGTGAGGGGTCCACAAAAGAGGGAAAGATTTATGCCTTCAGTCTGCCACCTAGCAACCTGTCTCCTGTTTCCTACAGCCACTGCGTCGCTTCCCTCTGGATGCTGCCATCATTTTCTCCGACATCCTTGTTGTACCCCAGGTACCCACTCAAACCTGATCCTAGAATATAATCCAAGGACGCCTTGAAAATCCTTCTATCAGTCCAGTCAAGGTTTACAATAAGCACTTATCCTAACTGGATCGAGGGAAAAACTAAGGTTGAAAGAAATGGAGTTTGGCAGAGTTTTATTCTCCTTTTCCTTCCTCCTGGAATGAGCTGAACAGAACCTTTCCTCCTGGATTCCATTTTGGGAACCCAGATGTTTTCTCCCCCTCCAGGCACTGGGCATGGAGGTGACCATGGTACCTGGCAAAGGACCCAGCTTCCCAGAGCCATTAAGAGAAGAGCAGGACCTAGAACGCCTACGGGATCCAGAAGTGGTAGCCTCTGAGCTAGGCTATGTGTTCCAAGCCATCACCCTTACCCGACAACGACTGGCTGGACGTGTGCCGCTGATTGGCTTTGCTGGTGCCCCAGTAATGTGGGACAGGGCAGGGACTCGGGGCGCGGGGAGATCACTCTGGAAGGTCTGGGGTAGACAAAAGGAAGGGTCAGTCTGGCTTCTGTGACACCATCTTTCTATCCTTCTCTAGTGGACCCTGATGACATACATGGTTGAGGGTGGTGGCTCAAGCACCATGGCTCAGGCCAAGCGCTGGCTCTATCAGAGACCTCAGGCTAGTCACCAGCTGCTTCGCATCCTCACTGATGCTCTGGTCCCATATCTGGTAGGACAAGTGGTGGCTGGTGCCCAGGTGAGTCCTGAGAGAGAGAGAAATAGGCTGGGATTTGGTCTGTAAGGACCAGAAGCAAGAGTGTCCTAAACCTGAGAGGGCAGGGGTCTTAATGCCAGGGATGAAAGAACCTTGGCCTCCAGTGATCTAGCGGAGCAGCCAAGCCCATCCTGACACTGACAGTGGGGCTTAATGCTCTAAGTATTCAGACACCAAAGTTAGTGCTGGGATCTGAGGAAAGTAAATTTTTTTTTTTTTAATTACTGGGTTTTTAGGGTCAGGCAGTATCAGGGATTGAAGTCATTTGGGGAAAATTGAGGTGGATTTTGTATGTGGGGGAAACTTCCTCTTTGTGTGTTACATATTTTTCTTCACCATACCCTAACTAGGCATTGCAGCTGTTTGAGTCCCATGCAGGGCATCTTGGCCCACAGCTCTTCAACAAGTTTGCACTGCCTTACATCCGTGATGTGGCCAAGCAAGTGAAGGCCAGGTTGCGGGAGGCAGGCCTGGCACCAGTGCCCATGGTGAGGATTGGGATGGGTTGAGTGAAGGTGGTCCTGTGGAGCTTTCAGGCTAAGTCCTGCATGGACTGGAGTGACCACTGGAGGGCAGCAGAAGTACAGTCAAGAAAGATTAGTGGTTGTAGCAAGGCCCTCTGTAGCCTGAGATCTGCTTTTTTCTAGATCATCTTTGCTAAGGATGGGCATTTTGCCCTGGAGGAGCTGGCCCAAGCTGGCTATGAGGTGGTTGGGCTTGACTGGACAGTGGCCCCAAAGAAAGCCCGGTAAGCCATGGAAGGGTGAGGCCTTGAGGTTGAGGTGGGGGTGTTGGCTGGGGGAGCTGCCATGTATGCAGTTACCAGAACGTGGCGCTGGCTTTGCTTCCAGGGAGTGTGTGGGGAAGACGGTGACATTGCAGGGCAACCTGGACCCCTGTGCCTTGTATGCATCTGAGGTAACAGCCAGGGCCCCTCTGTGTGTCTGTTACTGTGCACTCCTGTGGCTGTGGCTGTATTATTCTGTGTGCACTTGTTTTTAATGTCTGTCTGTCCTTTTCTTCTACTCTGTACAACATAAGCCCTAGAAAGACCGGACTTTTTGTTGCTGTTGTTCATTTGTGTTTATGCTTCATGCCTGGGTCCATACTAGGGATCTGATAAATTTTATTGAATGACTGAATAACACTGAGTAGAAGCATGCCTACATATGCGTTTGTCACTAGTATATATAGGGAGGACAAAGGCTTGCTGGTCCTCCTGTAGCCAGTGCCCTGTTGGTCCCCCAGGAGGAGATCGGGCAGTTGGTGAAGCAGATGCTGGATGACTTTGGACCACATCGCTACATTGCCAACCTGGGCCATGGGCTTTATCCTGACATGGACCCAGAACATGTGGGCGCCTTTGTGGATGCTGTGCATAAACACTCACGTCTGCTTCGACAGAACTGAGTGTATACCTTTACCCTCAAGTACCACTAACACAGATGATTGATCGTTTCCAGGACAATAAAAGTTTCGGAGTTGAACTATTGTGTAGTTTTGTTTGTGAAAGATTGTGCCCATATCCTCAGTTCTTCTTAGCCTCTGCTCCTTCCCTGGGAACCCTCTCTATATCCTCTTCACAAGTCATGGGGGTTAGGTATCAGTGAATATGTACTATAGCACTTAAGGATTCTCATTCCCATCTTACTCTCAGATACCTAAGTCCCAGAACTACATGGGGTAGGGTAGAGCTTTCCTAGCAGTTCAGGTTGTGACATTTGCAGAAAAACGGGTGGGGTCCTCACAACATACAAAGGCCAAATTGATAGGGCTTTATGTCTGGGGAGAAAGGGAAGTATACATCAAAAAGGGGCACAGAAGGGGTTAGAACACTTCAGAGAGGCATGGGGAAGAAGATGGAGTCTAGGCAAGCAGGGAGAAGCT
|
TGCACCTACTATAGGTCCAGGCTATAGTATGGACCTGGCTGGATAAGACTGTTGGTATCATGAGTGGGACTTGCGCCAAGCCTCCGGATACCCAGACTGTCAGATGAGAACAAATTCCTCATGTCACCGTAAGATACATTTACAGCGGAGTTTTCTTTTGGGCCTTTGTTGTTGCGTCGCTACAGCAAACTTTACGGTGAAAAAAGGTAGGGGTCCTACGGGCAGCAGCCAGGGCAGCCCTGGAGCTGTCGCTGGAGTCCGATCATGTGATCTTCAACATGGCGACGCTCTTGGTTCCCTACAGAAAGGGGCGGAGCCTGGACTGGGGGGCAGGCTCAGATTCAGGTTAAATTGTGGATTGAGCTCGCAGTTACAGACAGCTGACCATGGAAGCGAATGGGTTGGGGTGAGTTCTCCAGAGCACGCGGTGTGGCTAGCCGGGCTTCTAATTTGAGTCTTCCAACTCAGGACTCTATCCCTCTACTCCCCTTTCCCCACCCTGGAGACCTCCCAACCTGAACTCCGTTAGCTGGGATCCTGAATCCTAAAACCATGGATTTTTGAGATGTTCATCCCAGGGCCTTAATTCAAGGGATGCCTCAGGATTTCCAACCAGGATCTCTATTCTGGGACCATCAACTCTGATCCCTCTTTATCCCCCAGCCTGGGTATTTCTCAGCCCCTGAACCAGCCCAGTGACATTCCCGTTTCTGAGGCTCACTAGTTCGAAGACCCCCAAACTATCCTTAGTGGGCCTTCATTCCCTCCCCCCAGTCCCTCTGGTTGCTTCGAGCTTGGAAGAGTAGAGACTAAGTGGAGGGAAGAGGCCCCAGGGCGGGCCCTTCTGGAGTTTGTGCACCACCTGATAGGCAGAGAGGAGGCGGAACGGGCGGAAAGCCAGGGTTTGGGAGCTGGCCTGGAGGAGGTAGATAGCGGTCCTGGACTGAATCGGCCTTATGAACCCGCGCTTTCCCCAGCCTCCAGCGTAGCATACTGACACCTACCCCCACCCCCACCTGATCGCCAGACCTCAGGGTTTTCCGGAGCTGAAGAATGACACATTCCTGCGAGCAGCCTGGGGAGAGGAAACAGACTACACTCCCGTTTGGTGCATGCGCCAGGCAGGCCGTTACTTACCAGGTAAGAGTCAGGGTCTGGAAATCTAGATAAAACTCCGGAGGGAGAAAAGTTTTCGAGGGGCAGGGGAGGGCTCTGGAGGGCCTCAAGGCTGAGCCCTGTCTTCCCTCTGTATGCAGAGTTTAGGGAAACCCGGGCTGCCCAGGACTTTTTCAGCACGTGTCGCTCTCCTGAGGCCTGCTGTGAACTGACTCTGCAGGTGAGGGGTCCACAAAAGAGGGAAAGATTTATGCCTTCAGTCTGCCACCTAGCAACCTGTCTCCTGTTTCCTACAGCCACTGCGTCGCTTCCCTCTGGATGCTGCCATCATTTTCTCCGACATCCTTGTTGTACCCCAGGTACCCACTCAAACCTGATCCTAGAATATAATCCAAGGACGCCTTGAAAATCCTTCTATCAGTCCAGTCAAGGTTTACAATAAGCACTTATCCTAACTGGATCGAGGGAAAAACTAAGGTTGAAAGAAATGGAGTTTGGCAGAGTTTTATTCTCCTTTTCCTTCCTCCTGGAATGAGCTGAACAGAACCTTTCCTCCTGGATTCCATTTTGGGAACCCAGATGTTTTCTCCCCCTCCAGGCACTGGGCATGGAGGTGACCATGGTACCTGGCAAAGGACCCAGCTTCCCAGAGCCATTAAGAGAAGAGCAGGACCTAGAACGCCTACGGGATCCAGAAGTGGTAGCCTCTGAGCTAGGCTATGTGTTCCAAGCCATCACCCTTACCCGACAACGACTGGCTGGACGTGTGCCGCTGATTGGCTTTGCTGGTGCCCCAGTAATGTGGGACAGGGCAGGGACTCGGGGCGCGGGGAGATCACTCTGGAAGGTCTGGGGTAGACAAAAGGAAGGGTCAGTCTGGCTTCTGTGACACCATCTTTCTATCCTTCTCTAGTGGACCCTGATGACATACAGGGTTGAGGGTGGTGGCTCAAGCACCATGGCTCAGGCCAAGCGCTGGCTCTATCAGAGACCTCAGGCTAGTCACCAGCTGCTTCGCATCCTCACTGATGCTCTGGTCCCATATCTGGTAGGACAAGTGGTGGCTGGTGCCCAGGTGAGTCCTGAGAGAGAGAGAAATAGGCTGGGATTTGGTCTGTAAGGACCAGAAGCAAGAGTGTCCTAAACCTGAGAGGGCAGGGGTCTTAATGCCAGGGATGAAAGAACCTTGGCCTCCAGTGATCTAGCGGAGCAGCCAAGCCCATCCTGACACTGACAGTGGGGCTTAATGCTCTAAGTATTCAGACACCAAAGTTAGTGCTGGGATCTGAGGAAAGTAAATTTTTTTTTTTTTAATTACTGGGTTTTTAGGGTCAGGCAGTATCAGGGATTGAAGTCATTTGGGGAAAATTGAGGTGGATTTTGTATGTGGGGGAAACTTCCTCTTTGTGTGTTACATATTTTTCTTCACCATACCCTAACTAGGCATTGCAGCTGTTTGAGTCCCATGCAGGGCATCTTGGCCCACAGCTCTTCAACAAGTTTGCACTGCCTTACATCCGTGATGTGGCCAAGCAAGTGAAGGCCAGGTTGCGGGAGGCAGGCCTGGCACCAGTGCCCATGGTGAGGATTGGGATGGGTTGAGTGAAGGTGGTCCTGTGGAGCTTTCAGGCTAAGTCCTGCATGGACTGGAGTGACCACTGGAGGGCAGCAGAAGTACAGTCAAGAAAGATTAGTGGTTGTAGCAAGGCCCTCTGTAGCCTGAGATCTGCTTTTTTCTAGATCATCTTTGCTAAGGATGGGCATTTTGCCCTGGAGGAGCTGGCCCAAGCTGGCTATGAGGTGGTTGGGCTTGACTGGACAGTGGCCCCAAAGAAAGCCCGGTAAGCCATGGAAGGGTGAGGCCTTGAGGTTGAGGTGGGGGTGTTGGCTGGGGGAGCTGCCATGTATGCAGTTACCAGAACGTGGCGCTGGCTTTGCTTCCAGGGAGTGTGTGGGGAAGACGGTGACATTGCAGGGCAACCTGGACCCCTGTGCCTTGTATGCATCTGAGGTAACAGCCAGGGCCCCTCTGTGTGTCTGTTACTGTGCACTCCTGTGGCTGTGGCTGTATTATTCTGTGTGCACTTGTTTTTAATGTCTGTCTGTCCTTTTCTTCTACTCTGTACAACATAAGCCCTAGAAAGACCGGACTTTTTGTTGCTGTTGTTCATTTGTGTTTATGCTTCATGCCTGGGTCCATACTAGGGATCTGATAAATTTTATTGAATGACTGAATAACACTGAGTAGAAGCATGCCTACATATGCGTTTGTCACTAGTATATATAGGGAGGACAAAGGCTTGCTGGTCCTCCTGTAGCCAGTGCCCTGTTGGTCCCCCAGGAGGAGATCGGGCAGTTGGTGAAGCAGATGCTGGATGACTTTGGACCACATCGCTACATTGCCAACCTGGGCCATGGGCTTTATCCTGACATGGACCCAGAACATGTGGGCGCCTTTGTGGATGCTGTGCATAAACACTCACGTCTGCTTCGACAGAACTGAGTGTATACCTTTACCCTCAAGTACCACTAACACAGATGATTGATCGTTTCCAGGACAATAAAAGTTTCGGAGTTGAACTATTGTGTAGTTTTGTTTGTGAAAGATTGTGCCCATATCCTCAGTTCTTCTTAGCCTCTGCTCCTTCCCTGGGAACCCTCTCTATATCCTCTTCACAAGTCATGGGGGTTAGGTATCAGTGAATATGTACTATAGCACTTAAGGATTCTCATTCCCATCTTACTCTCAGATACCTAAGTCCCAGAACTACATGGGGTAGGGTAGAGCTTTCCTAGCAGTTCAGGTTGTGACATTTGCAGAAAAACGGGTGGGGTCCTCACAACATACAAAGGCCAAATTGATAGGGCTTTATGTCTGGGGAGAAAGGGAAGTATACATCAAAAAGGGGCACAGAAGGGGTTAGAACACTTCAGAGAGGCATGGGGAAGAAGATGGAGTCTAGGCAAGCAGGGAGAAGCT
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Task1_train_837
|
Here is a mutation in UROD (uroporphyrinogen decarboxylase) on Chromosome 1. Determine whether it’s benign or pathogenic. If the latter, what disease does it cause?
|
Pathogenic; not provided
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ACCTACTATAGGTCCAGGCTATAGTATGGACCTGGCTGGATAAGACTGTTGGTATCATGAGTGGGACTTGCGCCAAGCCTCCGGATACCCAGACTGTCAGATGAGAACAAATTCCTCATGTCACCGTAAGATACATTTACAGCGGAGTTTTCTTTTGGGCCTTTGTTGTTGCGTCGCTACAGCAAACTTTACGGTGAAAAAAGGTAGGGGTCCTACGGGCAGCAGCCAGGGCAGCCCTGGAGCTGTCGCTGGAGTCCGATCATGTGATCTTCAACATGGCGACGCTCTTGGTTCCCTACAGAAAGGGGCGGAGCCTGGACTGGGGGGCAGGCTCAGATTCAGGTTAAATTGTGGATTGAGCTCGCAGTTACAGACAGCTGACCATGGAAGCGAATGGGTTGGGGTGAGTTCTCCAGAGCACGCGGTGTGGCTAGCCGGGCTTCTAATTTGAGTCTTCCAACTCAGGACTCTATCCCTCTACTCCCCTTTCCCCACCCTGGAGACCTCCCAACCTGAACTCCGTTAGCTGGGATCCTGAATCCTAAAACCATGGATTTTTGAGATGTTCATCCCAGGGCCTTAATTCAAGGGATGCCTCAGGATTTCCAACCAGGATCTCTATTCTGGGACCATCAACTCTGATCCCTCTTTATCCCCCAGCCTGGGTATTTCTCAGCCCCTGAACCAGCCCAGTGACATTCCCGTTTCTGAGGCTCACTAGTTCGAAGACCCCCAAACTATCCTTAGTGGGCCTTCATTCCCTCCCCCCAGTCCCTCTGGTTGCTTCGAGCTTGGAAGAGTAGAGACTAAGTGGAGGGAAGAGGCCCCAGGGCGGGCCCTTCTGGAGTTTGTGCACCACCTGATAGGCAGAGAGGAGGCGGAACGGGCGGAAAGCCAGGGTTTGGGAGCTGGCCTGGAGGAGGTAGATAGCGGTCCTGGACTGAATCGGCCTTATGAACCCGCGCTTTCCCCAGCCTCCAGCGTAGCATACTGACACCTACCCCCACCCCCACCTGATCGCCAGACCTCAGGGTTTTCCGGAGCTGAAGAATGACACATTCCTGCGAGCAGCCTGGGGAGAGGAAACAGACTACACTCCCGTTTGGTGCATGCGCCAGGCAGGCCGTTACTTACCAGGTAAGAGTCAGGGTCTGGAAATCTAGATAAAACTCCGGAGGGAGAAAAGTTTTCGAGGGGCAGGGGAGGGCTCTGGAGGGCCTCAAGGCTGAGCCCTGTCTTCCCTCTGTATGCAGAGTTTAGGGAAACCCGGGCTGCCCAGGACTTTTTCAGCACGTGTCGCTCTCCTGAGGCCTGCTGTGAACTGACTCTGCAGGTGAGGGGTCCACAAAAGAGGGAAAGATTTATGCCTTCAGTCTGCCACCTAGCAACCTGTCTCCTGTTTCCTACAGCCACTGCGTCGCTTCCCTCTGGATGCTGCCATCATTTTCTCCGACATCCTTGTTGTACCCCAGGTACCCACTCAAACCTGATCCTAGAATATAATCCAAGGACGCCTTGAAAATCCTTCTATCAGTCCAGTCAAGGTTTACAATAAGCACTTATCCTAACTGGATCGAGGGAAAAACTAAGGTTGAAAGAAATGGAGTTTGGCAGAGTTTTATTCTCCTTTTCCTTCCTCCTGGAATGAGCTGAACAGAACCTTTCCTCCTGGATTCCATTTTGGGAACCCAGATGTTTTCTCCCCCTCCAGGCACTGGGCATGGAGGTGACCATGGTACCTGGCAAAGGACCCAGCTTCCCAGAGCCATTAAGAGAAGAGCAGGACCTAGAACGCCTACGGGATCCAGAAGTGGTAGCCTCTGAGCTAGGCTATGTGTTCCAAGCCATCACCCTTACCCGACAACGACTGGCTGGACGTGTGCCGCTGATTGGCTTTGCTGGTGCCCCAGTAATGTGGGACAGGGCAGGGACTCGGGGCGCGGGGAGATCACTCTGGAAGGTCTGGGGTAGACAAAAGGAAGGGTCAGTCTGGCTTCTGTGACACCATCTTTCTATCCTTCTCTAGTGGACCCTGATGACATACATGGTTGAGGGTGGTGGCTCAAGCACCATGGCTCAGGCCAAGCGCTGGCTCTATCAGAGACCTCAGGCTAGTCACCAGCTGCTTCGCATCCTCACTGATGCTCTGGTCCCATATCTGGTAGGACAAGTGGTGGCTGGTGCCCAGGTGAGTCCTGAGAGAGAGAGAAATAGGCTGGGATTTGGTCTGTAAGGACCAGAAGCAAGAGTGTCCTAAACCTGAGAGGGCAGGGGTCTTAATGCCAGGGATGAAAGAACCTTGGCCTCCAGTGATCTAGCGGAGCAGCCAAGCCCATCCTGACACTGACAGTGGGGCTTAATGCTCTAAGTATTCAGACACCAAAGTTAGTGCTGGGATCTGAGGAAAGTAAATTTTTTTTTTTTTAATTACTGGGTTTTTAGGGTCAGGCAGTATCAGGGATTGAAGTCATTTGGGGAAAATTGAGGTGGATTTTGTATGTGGGGGAAACTTCCTCTTTGTGTGTTACATATTTTTCTTCACCATACCCTAACTAGGCATTGCAGCTGTTTGAGTCCCATGCAGGGCATCTTGGCCCACAGCTCTTCAACAAGTTTGCACTGCCTTACATCCGTGATGTGGCCAAGCAAGTGAAGGCCAGGTTGCGGGAGGCAGGCCTGGCACCAGTGCCCATGGTGAGGATTGGGATGGGTTGAGTGAAGGTGGTCCTGTGGAGCTTTCAGGCTAAGTCCTGCATGGACTGGAGTGACCACTGGAGGGCAGCAGAAGTACAGTCAAGAAAGATTAGTGGTTGTAGCAAGGCCCTCTGTAGCCTGAGATCTGCTTTTTTCTAGATCATCTTTGCTAAGGATGGGCATTTTGCCCTGGAGGAGCTGGCCCAAGCTGGCTATGAGGTGGTTGGGCTTGACTGGACAGTGGCCCCAAAGAAAGCCCGGTAAGCCATGGAAGGGTGAGGCCTTGAGGTTGAGGTGGGGGTGTTGGCTGGGGGAGCTGCCATGTATGCAGTTACCAGAACGTGGCGCTGGCTTTGCTTCCAGGGAGTGTGTGGGGAAGACGGTGACATTGCAGGGCAACCTGGACCCCTGTGCCTTGTATGCATCTGAGGTAACAGCCAGGGCCCCTCTGTGTGTCTGTTACTGTGCACTCCTGTGGCTGTGGCTGTATTATTCTGTGTGCACTTGTTTTTAATGTCTGTCTGTCCTTTTCTTCTACTCTGTACAACATAAGCCCTAGAAAGACCGGACTTTTTGTTGCTGTTGTTCATTTGTGTTTATGCTTCATGCCTGGGTCCATACTAGGGATCTGATAAATTTTATTGAATGACTGAATAACACTGAGTAGAAGCATGCCTACATATGCGTTTGTCACTAGTATATATAGGGAGGACAAAGGCTTGCTGGTCCTCCTGTAGCCAGTGCCCTGTTGGTCCCCCAGGAGGAGATCGGGCAGTTGGTGAAGCAGATGCTGGATGACTTTGGACCACATCGCTACATTGCCAACCTGGGCCATGGGCTTTATCCTGACATGGACCCAGAACATGTGGGCGCCTTTGTGGATGCTGTGCATAAACACTCACGTCTGCTTCGACAGAACTGAGTGTATACCTTTACCCTCAAGTACCACTAACACAGATGATTGATCGTTTCCAGGACAATAAAAGTTTCGGAGTTGAACTATTGTGTAGTTTTGTTTGTGAAAGATTGTGCCCATATCCTCAGTTCTTCTTAGCCTCTGCTCCTTCCCTGGGAACCCTCTCTATATCCTCTTCACAAGTCATGGGGGTTAGGTATCAGTGAATATGTACTATAGCACTTAAGGATTCTCATTCCCATCTTACTCTCAGATACCTAAGTCCCAGAACTACATGGGGTAGGGTAGAGCTTTCCTAGCAGTTCAGGTTGTGACATTTGCAGAAAAACGGGTGGGGTCCTCACAACATACAAAGGCCAAATTGATAGGGCTTTATGTCTGGGGAGAAAGGGAAGTATACATCAAAAAGGGGCACAGAAGGGGTTAGAACACTTCAGAGAGGCATGGGGAAGAAGATGGAGTCTAGGCAAGCAGGGAGAAGCTGAG
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ACCTACTATAGGTCCAGGCTATAGTATGGACCTGGCTGGATAAGACTGTTGGTATCATGAGTGGGACTTGCGCCAAGCCTCCGGATACCCAGACTGTCAGATGAGAACAAATTCCTCATGTCACCGTAAGATACATTTACAGCGGAGTTTTCTTTTGGGCCTTTGTTGTTGCGTCGCTACAGCAAACTTTACGGTGAAAAAAGGTAGGGGTCCTACGGGCAGCAGCCAGGGCAGCCCTGGAGCTGTCGCTGGAGTCCGATCATGTGATCTTCAACATGGCGACGCTCTTGGTTCCCTACAGAAAGGGGCGGAGCCTGGACTGGGGGGCAGGCTCAGATTCAGGTTAAATTGTGGATTGAGCTCGCAGTTACAGACAGCTGACCATGGAAGCGAATGGGTTGGGGTGAGTTCTCCAGAGCACGCGGTGTGGCTAGCCGGGCTTCTAATTTGAGTCTTCCAACTCAGGACTCTATCCCTCTACTCCCCTTTCCCCACCCTGGAGACCTCCCAACCTGAACTCCGTTAGCTGGGATCCTGAATCCTAAAACCATGGATTTTTGAGATGTTCATCCCAGGGCCTTAATTCAAGGGATGCCTCAGGATTTCCAACCAGGATCTCTATTCTGGGACCATCAACTCTGATCCCTCTTTATCCCCCAGCCTGGGTATTTCTCAGCCCCTGAACCAGCCCAGTGACATTCCCGTTTCTGAGGCTCACTAGTTCGAAGACCCCCAAACTATCCTTAGTGGGCCTTCATTCCCTCCCCCCAGTCCCTCTGGTTGCTTCGAGCTTGGAAGAGTAGAGACTAAGTGGAGGGAAGAGGCCCCAGGGCGGGCCCTTCTGGAGTTTGTGCACCACCTGATAGGCAGAGAGGAGGCGGAACGGGCGGAAAGCCAGGGTTTGGGAGCTGGCCTGGAGGAGGTAGATAGCGGTCCTGGACTGAATCGGCCTTATGAACCCGCGCTTTCCCCAGCCTCCAGCGTAGCATACTGACACCTACCCCCACCCCCACCTGATCGCCAGACCTCAGGGTTTTCCGGAGCTGAAGAATGACACATTCCTGCGAGCAGCCTGGGGAGAGGAAACAGACTACACTCCCGTTTGGTGCATGCGCCAGGCAGGCCGTTACTTACCAGGTAAGAGTCAGGGTCTGGAAATCTAGATAAAACTCCGGAGGGAGAAAAGTTTTCGAGGGGCAGGGGAGGGCTCTGGAGGGCCTCAAGGCTGAGCCCTGTCTTCCCTCTGTATGCAGAGTTTAGGGAAACCCGGGCTGCCCAGGACTTTTTCAGCACGTGTCGCTCTCCTGAGGCCTGCTGTGAACTGACTCTGCAGGTGAGGGGTCCACAAAAGAGGGAAAGATTTATGCCTTCAGTCTGCCACCTAGCAACCTGTCTCCTGTTTCCTACAGCCACTGCGTCGCTTCCCTCTGGATGCTGCCATCATTTTCTCCGACATCCTTGTTGTACCCCAGGTACCCACTCAAACCTGATCCTAGAATATAATCCAAGGACGCCTTGAAAATCCTTCTATCAGTCCAGTCAAGGTTTACAATAAGCACTTATCCTAACTGGATCGAGGGAAAAACTAAGGTTGAAAGAAATGGAGTTTGGCAGAGTTTTATTCTCCTTTTCCTTCCTCCTGGAATGAGCTGAACAGAACCTTTCCTCCTGGATTCCATTTTGGGAACCCAGATGTTTTCTCCCCCTCCAGGCACTGGGCATGGAGGTGACCATGGTACCTGGCAAAGGACCCAGCTTCCCAGAGCCATTAAGAGAAGAGCAGGACCTAGAACGCCTACGGGATCCAGAAGTGGTAGCCTCTGAGCTAGGCTATGTGTTCCAAGCCATCACCCTTACCCGACAACGACTGGCTGGACGTGTGCCGCTGATTGGCTTTGCTGGTGCCCCAGTAATGTGGGACAGGGCAGGGACTCGGGGCGCGGGGAGATCACTCTGGAAGGTCTGGGGTAGACAAAAGGAAGGGTCAGTCTGGCTTCTGTGACACCATCTTTCTATCCTTCTCTAGTGGACCCTGATGACATACATGGCTGAGGGTGGTGGCTCAAGCACCATGGCTCAGGCCAAGCGCTGGCTCTATCAGAGACCTCAGGCTAGTCACCAGCTGCTTCGCATCCTCACTGATGCTCTGGTCCCATATCTGGTAGGACAAGTGGTGGCTGGTGCCCAGGTGAGTCCTGAGAGAGAGAGAAATAGGCTGGGATTTGGTCTGTAAGGACCAGAAGCAAGAGTGTCCTAAACCTGAGAGGGCAGGGGTCTTAATGCCAGGGATGAAAGAACCTTGGCCTCCAGTGATCTAGCGGAGCAGCCAAGCCCATCCTGACACTGACAGTGGGGCTTAATGCTCTAAGTATTCAGACACCAAAGTTAGTGCTGGGATCTGAGGAAAGTAAATTTTTTTTTTTTTAATTACTGGGTTTTTAGGGTCAGGCAGTATCAGGGATTGAAGTCATTTGGGGAAAATTGAGGTGGATTTTGTATGTGGGGGAAACTTCCTCTTTGTGTGTTACATATTTTTCTTCACCATACCCTAACTAGGCATTGCAGCTGTTTGAGTCCCATGCAGGGCATCTTGGCCCACAGCTCTTCAACAAGTTTGCACTGCCTTACATCCGTGATGTGGCCAAGCAAGTGAAGGCCAGGTTGCGGGAGGCAGGCCTGGCACCAGTGCCCATGGTGAGGATTGGGATGGGTTGAGTGAAGGTGGTCCTGTGGAGCTTTCAGGCTAAGTCCTGCATGGACTGGAGTGACCACTGGAGGGCAGCAGAAGTACAGTCAAGAAAGATTAGTGGTTGTAGCAAGGCCCTCTGTAGCCTGAGATCTGCTTTTTTCTAGATCATCTTTGCTAAGGATGGGCATTTTGCCCTGGAGGAGCTGGCCCAAGCTGGCTATGAGGTGGTTGGGCTTGACTGGACAGTGGCCCCAAAGAAAGCCCGGTAAGCCATGGAAGGGTGAGGCCTTGAGGTTGAGGTGGGGGTGTTGGCTGGGGGAGCTGCCATGTATGCAGTTACCAGAACGTGGCGCTGGCTTTGCTTCCAGGGAGTGTGTGGGGAAGACGGTGACATTGCAGGGCAACCTGGACCCCTGTGCCTTGTATGCATCTGAGGTAACAGCCAGGGCCCCTCTGTGTGTCTGTTACTGTGCACTCCTGTGGCTGTGGCTGTATTATTCTGTGTGCACTTGTTTTTAATGTCTGTCTGTCCTTTTCTTCTACTCTGTACAACATAAGCCCTAGAAAGACCGGACTTTTTGTTGCTGTTGTTCATTTGTGTTTATGCTTCATGCCTGGGTCCATACTAGGGATCTGATAAATTTTATTGAATGACTGAATAACACTGAGTAGAAGCATGCCTACATATGCGTTTGTCACTAGTATATATAGGGAGGACAAAGGCTTGCTGGTCCTCCTGTAGCCAGTGCCCTGTTGGTCCCCCAGGAGGAGATCGGGCAGTTGGTGAAGCAGATGCTGGATGACTTTGGACCACATCGCTACATTGCCAACCTGGGCCATGGGCTTTATCCTGACATGGACCCAGAACATGTGGGCGCCTTTGTGGATGCTGTGCATAAACACTCACGTCTGCTTCGACAGAACTGAGTGTATACCTTTACCCTCAAGTACCACTAACACAGATGATTGATCGTTTCCAGGACAATAAAAGTTTCGGAGTTGAACTATTGTGTAGTTTTGTTTGTGAAAGATTGTGCCCATATCCTCAGTTCTTCTTAGCCTCTGCTCCTTCCCTGGGAACCCTCTCTATATCCTCTTCACAAGTCATGGGGGTTAGGTATCAGTGAATATGTACTATAGCACTTAAGGATTCTCATTCCCATCTTACTCTCAGATACCTAAGTCCCAGAACTACATGGGGTAGGGTAGAGCTTTCCTAGCAGTTCAGGTTGTGACATTTGCAGAAAAACGGGTGGGGTCCTCACAACATACAAAGGCCAAATTGATAGGGCTTTATGTCTGGGGAGAAAGGGAAGTATACATCAAAAAGGGGCACAGAAGGGGTTAGAACACTTCAGAGAGGCATGGGGAAGAAGATGGAGTCTAGGCAAGCAGGGAGAAGCTGAG
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Task1_train_838
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A sequence alteration has been identified in UROD (uroporphyrinogen decarboxylase) on Chromosome 1. Is it disease-inducing or harmless?
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Pathogenic; Familial porphyria cutanea tarda
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ACCCAGACTGTCAGATGAGAACAAATTCCTCATGTCACCGTAAGATACATTTACAGCGGAGTTTTCTTTTGGGCCTTTGTTGTTGCGTCGCTACAGCAAACTTTACGGTGAAAAAAGGTAGGGGTCCTACGGGCAGCAGCCAGGGCAGCCCTGGAGCTGTCGCTGGAGTCCGATCATGTGATCTTCAACATGGCGACGCTCTTGGTTCCCTACAGAAAGGGGCGGAGCCTGGACTGGGGGGCAGGCTCAGATTCAGGTTAAATTGTGGATTGAGCTCGCAGTTACAGACAGCTGACCATGGAAGCGAATGGGTTGGGGTGAGTTCTCCAGAGCACGCGGTGTGGCTAGCCGGGCTTCTAATTTGAGTCTTCCAACTCAGGACTCTATCCCTCTACTCCCCTTTCCCCACCCTGGAGACCTCCCAACCTGAACTCCGTTAGCTGGGATCCTGAATCCTAAAACCATGGATTTTTGAGATGTTCATCCCAGGGCCTTAATTCAAGGGATGCCTCAGGATTTCCAACCAGGATCTCTATTCTGGGACCATCAACTCTGATCCCTCTTTATCCCCCAGCCTGGGTATTTCTCAGCCCCTGAACCAGCCCAGTGACATTCCCGTTTCTGAGGCTCACTAGTTCGAAGACCCCCAAACTATCCTTAGTGGGCCTTCATTCCCTCCCCCCAGTCCCTCTGGTTGCTTCGAGCTTGGAAGAGTAGAGACTAAGTGGAGGGAAGAGGCCCCAGGGCGGGCCCTTCTGGAGTTTGTGCACCACCTGATAGGCAGAGAGGAGGCGGAACGGGCGGAAAGCCAGGGTTTGGGAGCTGGCCTGGAGGAGGTAGATAGCGGTCCTGGACTGAATCGGCCTTATGAACCCGCGCTTTCCCCAGCCTCCAGCGTAGCATACTGACACCTACCCCCACCCCCACCTGATCGCCAGACCTCAGGGTTTTCCGGAGCTGAAGAATGACACATTCCTGCGAGCAGCCTGGGGAGAGGAAACAGACTACACTCCCGTTTGGTGCATGCGCCAGGCAGGCCGTTACTTACCAGGTAAGAGTCAGGGTCTGGAAATCTAGATAAAACTCCGGAGGGAGAAAAGTTTTCGAGGGGCAGGGGAGGGCTCTGGAGGGCCTCAAGGCTGAGCCCTGTCTTCCCTCTGTATGCAGAGTTTAGGGAAACCCGGGCTGCCCAGGACTTTTTCAGCACGTGTCGCTCTCCTGAGGCCTGCTGTGAACTGACTCTGCAGGTGAGGGGTCCACAAAAGAGGGAAAGATTTATGCCTTCAGTCTGCCACCTAGCAACCTGTCTCCTGTTTCCTACAGCCACTGCGTCGCTTCCCTCTGGATGCTGCCATCATTTTCTCCGACATCCTTGTTGTACCCCAGGTACCCACTCAAACCTGATCCTAGAATATAATCCAAGGACGCCTTGAAAATCCTTCTATCAGTCCAGTCAAGGTTTACAATAAGCACTTATCCTAACTGGATCGAGGGAAAAACTAAGGTTGAAAGAAATGGAGTTTGGCAGAGTTTTATTCTCCTTTTCCTTCCTCCTGGAATGAGCTGAACAGAACCTTTCCTCCTGGATTCCATTTTGGGAACCCAGATGTTTTCTCCCCCTCCAGGCACTGGGCATGGAGGTGACCATGGTACCTGGCAAAGGACCCAGCTTCCCAGAGCCATTAAGAGAAGAGCAGGACCTAGAACGCCTACGGGATCCAGAAGTGGTAGCCTCTGAGCTAGGCTATGTGTTCCAAGCCATCACCCTTACCCGACAACGACTGGCTGGACGTGTGCCGCTGATTGGCTTTGCTGGTGCCCCAGTAATGTGGGACAGGGCAGGGACTCGGGGCGCGGGGAGATCACTCTGGAAGGTCTGGGGTAGACAAAAGGAAGGGTCAGTCTGGCTTCTGTGACACCATCTTTCTATCCTTCTCTAGTGGACCCTGATGACATACATGGTTGAGGGTGGTGGCTCAAGCACCATGGCTCAGGCCAAGCGCTGGCTCTATCAGAGACCTCAGGCTAGTCACCAGCTGCTTCGCATCCTCACTGATGCTCTGGTCCCATATCTGGTAGGACAAGTGGTGGCTGGTGCCCAGGTGAGTCCTGAGAGAGAGAGAAATAGGCTGGGATTTGGTCTGTAAGGACCAGAAGCAAGAGTGTCCTAAACCTGAGAGGGCAGGGGTCTTAATGCCAGGGATGAAAGAACCTTGGCCTCCAGTGATCTAGCGGAGCAGCCAAGCCCATCCTGACACTGACAGTGGGGCTTAATGCTCTAAGTATTCAGACACCAAAGTTAGTGCTGGGATCTGAGGAAAGTAAATTTTTTTTTTTTTAATTACTGGGTTTTTAGGGTCAGGCAGTATCAGGGATTGAAGTCATTTGGGGAAAATTGAGGTGGATTTTGTATGTGGGGGAAACTTCCTCTTTGTGTGTTACATATTTTTCTTCACCATACCCTAACTAGGCATTGCAGCTGTTTGAGTCCCATGCAGGGCATCTTGGCCCACAGCTCTTCAACAAGTTTGCACTGCCTTACATCCGTGATGTGGCCAAGCAAGTGAAGGCCAGGTTGCGGGAGGCAGGCCTGGCACCAGTGCCCATGGTGAGGATTGGGATGGGTTGAGTGAAGGTGGTCCTGTGGAGCTTTCAGGCTAAGTCCTGCATGGACTGGAGTGACCACTGGAGGGCAGCAGAAGTACAGTCAAGAAAGATTAGTGGTTGTAGCAAGGCCCTCTGTAGCCTGAGATCTGCTTTTTTCTAGATCATCTTTGCTAAGGATGGGCATTTTGCCCTGGAGGAGCTGGCCCAAGCTGGCTATGAGGTGGTTGGGCTTGACTGGACAGTGGCCCCAAAGAAAGCCCGGTAAGCCATGGAAGGGTGAGGCCTTGAGGTTGAGGTGGGGGTGTTGGCTGGGGGAGCTGCCATGTATGCAGTTACCAGAACGTGGCGCTGGCTTTGCTTCCAGGGAGTGTGTGGGGAAGACGGTGACATTGCAGGGCAACCTGGACCCCTGTGCCTTGTATGCATCTGAGGTAACAGCCAGGGCCCCTCTGTGTGTCTGTTACTGTGCACTCCTGTGGCTGTGGCTGTATTATTCTGTGTGCACTTGTTTTTAATGTCTGTCTGTCCTTTTCTTCTACTCTGTACAACATAAGCCCTAGAAAGACCGGACTTTTTGTTGCTGTTGTTCATTTGTGTTTATGCTTCATGCCTGGGTCCATACTAGGGATCTGATAAATTTTATTGAATGACTGAATAACACTGAGTAGAAGCATGCCTACATATGCGTTTGTCACTAGTATATATAGGGAGGACAAAGGCTTGCTGGTCCTCCTGTAGCCAGTGCCCTGTTGGTCCCCCAGGAGGAGATCGGGCAGTTGGTGAAGCAGATGCTGGATGACTTTGGACCACATCGCTACATTGCCAACCTGGGCCATGGGCTTTATCCTGACATGGACCCAGAACATGTGGGCGCCTTTGTGGATGCTGTGCATAAACACTCACGTCTGCTTCGACAGAACTGAGTGTATACCTTTACCCTCAAGTACCACTAACACAGATGATTGATCGTTTCCAGGACAATAAAAGTTTCGGAGTTGAACTATTGTGTAGTTTTGTTTGTGAAAGATTGTGCCCATATCCTCAGTTCTTCTTAGCCTCTGCTCCTTCCCTGGGAACCCTCTCTATATCCTCTTCACAAGTCATGGGGGTTAGGTATCAGTGAATATGTACTATAGCACTTAAGGATTCTCATTCCCATCTTACTCTCAGATACCTAAGTCCCAGAACTACATGGGGTAGGGTAGAGCTTTCCTAGCAGTTCAGGTTGTGACATTTGCAGAAAAACGGGTGGGGTCCTCACAACATACAAAGGCCAAATTGATAGGGCTTTATGTCTGGGGAGAAAGGGAAGTATACATCAAAAAGGGGCACAGAAGGGGTTAGAACACTTCAGAGAGGCATGGGGAAGAAGATGGAGTCTAGGCAAGCAGGGAGAAGCTGAGGGACCCTCAGCTTTGACACCAAAATATATAGAGGACATGAAAGCTCAGAGCTAGGTTGCTTAGGATTGGAGCTTTAGACAAGTCGA
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ACCCAGACTGTCAGATGAGAACAAATTCCTCATGTCACCGTAAGATACATTTACAGCGGAGTTTTCTTTTGGGCCTTTGTTGTTGCGTCGCTACAGCAAACTTTACGGTGAAAAAAGGTAGGGGTCCTACGGGCAGCAGCCAGGGCAGCCCTGGAGCTGTCGCTGGAGTCCGATCATGTGATCTTCAACATGGCGACGCTCTTGGTTCCCTACAGAAAGGGGCGGAGCCTGGACTGGGGGGCAGGCTCAGATTCAGGTTAAATTGTGGATTGAGCTCGCAGTTACAGACAGCTGACCATGGAAGCGAATGGGTTGGGGTGAGTTCTCCAGAGCACGCGGTGTGGCTAGCCGGGCTTCTAATTTGAGTCTTCCAACTCAGGACTCTATCCCTCTACTCCCCTTTCCCCACCCTGGAGACCTCCCAACCTGAACTCCGTTAGCTGGGATCCTGAATCCTAAAACCATGGATTTTTGAGATGTTCATCCCAGGGCCTTAATTCAAGGGATGCCTCAGGATTTCCAACCAGGATCTCTATTCTGGGACCATCAACTCTGATCCCTCTTTATCCCCCAGCCTGGGTATTTCTCAGCCCCTGAACCAGCCCAGTGACATTCCCGTTTCTGAGGCTCACTAGTTCGAAGACCCCCAAACTATCCTTAGTGGGCCTTCATTCCCTCCCCCCAGTCCCTCTGGTTGCTTCGAGCTTGGAAGAGTAGAGACTAAGTGGAGGGAAGAGGCCCCAGGGCGGGCCCTTCTGGAGTTTGTGCACCACCTGATAGGCAGAGAGGAGGCGGAACGGGCGGAAAGCCAGGGTTTGGGAGCTGGCCTGGAGGAGGTAGATAGCGGTCCTGGACTGAATCGGCCTTATGAACCCGCGCTTTCCCCAGCCTCCAGCGTAGCATACTGACACCTACCCCCACCCCCACCTGATCGCCAGACCTCAGGGTTTTCCGGAGCTGAAGAATGACACATTCCTGCGAGCAGCCTGGGGAGAGGAAACAGACTACACTCCCGTTTGGTGCATGCGCCAGGCAGGCCGTTACTTACCAGGTAAGAGTCAGGGTCTGGAAATCTAGATAAAACTCCGGAGGGAGAAAAGTTTTCGAGGGGCAGGGGAGGGCTCTGGAGGGCCTCAAGGCTGAGCCCTGTCTTCCCTCTGTATGCAGAGTTTAGGGAAACCCGGGCTGCCCAGGACTTTTTCAGCACGTGTCGCTCTCCTGAGGCCTGCTGTGAACTGACTCTGCAGGTGAGGGGTCCACAAAAGAGGGAAAGATTTATGCCTTCAGTCTGCCACCTAGCAACCTGTCTCCTGTTTCCTACAGCCACTGCGTCGCTTCCCTCTGGATGCTGCCATCATTTTCTCCGACATCCTTGTTGTACCCCAGGTACCCACTCAAACCTGATCCTAGAATATAATCCAAGGACGCCTTGAAAATCCTTCTATCAGTCCAGTCAAGGTTTACAATAAGCACTTATCCTAACTGGATCGAGGGAAAAACTAAGGTTGAAAGAAATGGAGTTTGGCAGAGTTTTATTCTCCTTTTCCTTCCTCCTGGAATGAGCTGAACAGAACCTTTCCTCCTGGATTCCATTTTGGGAACCCAGATGTTTTCTCCCCCTCCAGGCACTGGGCATGGAGGTGACCATGGTACCTGGCAAAGGACCCAGCTTCCCAGAGCCATTAAGAGAAGAGCAGGACCTAGAACGCCTACGGGATCCAGAAGTGGTAGCCTCTGAGCTAGGCTATGTGTTCCAAGCCATCACCCTTACCCGACAACGACTGGCTGGACGTGTGCCGCTGATTGGCTTTGCTGGTGCCCCAGTAATGTGGGACAGGGCAGGGACTCGGGGCGCGGGGAGATCACTCTGGAAGGTCTGGGGTAGACAAAAGGAAGGGTCAGTCTGGCTTCTGTGACACCATCTTTCTATCCTTCTCTAGTGGACCCTGATGACATACATGGTTGAGGGTGGTGGCTCAAGCACCATGGCTCAGGCCAAGCGCTGGCTCTATCAGAGACCTCAGGCTAGTCACCAGCTGCTTCGCATCTTCACTGATGCTCTGGTCCCATATCTGGTAGGACAAGTGGTGGCTGGTGCCCAGGTGAGTCCTGAGAGAGAGAGAAATAGGCTGGGATTTGGTCTGTAAGGACCAGAAGCAAGAGTGTCCTAAACCTGAGAGGGCAGGGGTCTTAATGCCAGGGATGAAAGAACCTTGGCCTCCAGTGATCTAGCGGAGCAGCCAAGCCCATCCTGACACTGACAGTGGGGCTTAATGCTCTAAGTATTCAGACACCAAAGTTAGTGCTGGGATCTGAGGAAAGTAAATTTTTTTTTTTTTAATTACTGGGTTTTTAGGGTCAGGCAGTATCAGGGATTGAAGTCATTTGGGGAAAATTGAGGTGGATTTTGTATGTGGGGGAAACTTCCTCTTTGTGTGTTACATATTTTTCTTCACCATACCCTAACTAGGCATTGCAGCTGTTTGAGTCCCATGCAGGGCATCTTGGCCCACAGCTCTTCAACAAGTTTGCACTGCCTTACATCCGTGATGTGGCCAAGCAAGTGAAGGCCAGGTTGCGGGAGGCAGGCCTGGCACCAGTGCCCATGGTGAGGATTGGGATGGGTTGAGTGAAGGTGGTCCTGTGGAGCTTTCAGGCTAAGTCCTGCATGGACTGGAGTGACCACTGGAGGGCAGCAGAAGTACAGTCAAGAAAGATTAGTGGTTGTAGCAAGGCCCTCTGTAGCCTGAGATCTGCTTTTTTCTAGATCATCTTTGCTAAGGATGGGCATTTTGCCCTGGAGGAGCTGGCCCAAGCTGGCTATGAGGTGGTTGGGCTTGACTGGACAGTGGCCCCAAAGAAAGCCCGGTAAGCCATGGAAGGGTGAGGCCTTGAGGTTGAGGTGGGGGTGTTGGCTGGGGGAGCTGCCATGTATGCAGTTACCAGAACGTGGCGCTGGCTTTGCTTCCAGGGAGTGTGTGGGGAAGACGGTGACATTGCAGGGCAACCTGGACCCCTGTGCCTTGTATGCATCTGAGGTAACAGCCAGGGCCCCTCTGTGTGTCTGTTACTGTGCACTCCTGTGGCTGTGGCTGTATTATTCTGTGTGCACTTGTTTTTAATGTCTGTCTGTCCTTTTCTTCTACTCTGTACAACATAAGCCCTAGAAAGACCGGACTTTTTGTTGCTGTTGTTCATTTGTGTTTATGCTTCATGCCTGGGTCCATACTAGGGATCTGATAAATTTTATTGAATGACTGAATAACACTGAGTAGAAGCATGCCTACATATGCGTTTGTCACTAGTATATATAGGGAGGACAAAGGCTTGCTGGTCCTCCTGTAGCCAGTGCCCTGTTGGTCCCCCAGGAGGAGATCGGGCAGTTGGTGAAGCAGATGCTGGATGACTTTGGACCACATCGCTACATTGCCAACCTGGGCCATGGGCTTTATCCTGACATGGACCCAGAACATGTGGGCGCCTTTGTGGATGCTGTGCATAAACACTCACGTCTGCTTCGACAGAACTGAGTGTATACCTTTACCCTCAAGTACCACTAACACAGATGATTGATCGTTTCCAGGACAATAAAAGTTTCGGAGTTGAACTATTGTGTAGTTTTGTTTGTGAAAGATTGTGCCCATATCCTCAGTTCTTCTTAGCCTCTGCTCCTTCCCTGGGAACCCTCTCTATATCCTCTTCACAAGTCATGGGGGTTAGGTATCAGTGAATATGTACTATAGCACTTAAGGATTCTCATTCCCATCTTACTCTCAGATACCTAAGTCCCAGAACTACATGGGGTAGGGTAGAGCTTTCCTAGCAGTTCAGGTTGTGACATTTGCAGAAAAACGGGTGGGGTCCTCACAACATACAAAGGCCAAATTGATAGGGCTTTATGTCTGGGGAGAAAGGGAAGTATACATCAAAAAGGGGCACAGAAGGGGTTAGAACACTTCAGAGAGGCATGGGGAAGAAGATGGAGTCTAGGCAAGCAGGGAGAAGCTGAGGGACCCTCAGCTTTGACACCAAAATATATAGAGGACATGAAAGCTCAGAGCTAGGTTGCTTAGGATTGGAGCTTTAGACAAGTCGA
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Task1_train_839
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This variant lies on Chromosome 1 and affects the gene UROD (uroporphyrinogen decarboxylase). Based on this context, is the mutation pathogenic or benign? If pathogenic, what disease does it cause?
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Pathogenic; not provided
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AGGAGGCGGAACGGGCGGAAAGCCAGGGTTTGGGAGCTGGCCTGGAGGAGGTAGATAGCGGTCCTGGACTGAATCGGCCTTATGAACCCGCGCTTTCCCCAGCCTCCAGCGTAGCATACTGACACCTACCCCCACCCCCACCTGATCGCCAGACCTCAGGGTTTTCCGGAGCTGAAGAATGACACATTCCTGCGAGCAGCCTGGGGAGAGGAAACAGACTACACTCCCGTTTGGTGCATGCGCCAGGCAGGCCGTTACTTACCAGGTAAGAGTCAGGGTCTGGAAATCTAGATAAAACTCCGGAGGGAGAAAAGTTTTCGAGGGGCAGGGGAGGGCTCTGGAGGGCCTCAAGGCTGAGCCCTGTCTTCCCTCTGTATGCAGAGTTTAGGGAAACCCGGGCTGCCCAGGACTTTTTCAGCACGTGTCGCTCTCCTGAGGCCTGCTGTGAACTGACTCTGCAGGTGAGGGGTCCACAAAAGAGGGAAAGATTTATGCCTTCAGTCTGCCACCTAGCAACCTGTCTCCTGTTTCCTACAGCCACTGCGTCGCTTCCCTCTGGATGCTGCCATCATTTTCTCCGACATCCTTGTTGTACCCCAGGTACCCACTCAAACCTGATCCTAGAATATAATCCAAGGACGCCTTGAAAATCCTTCTATCAGTCCAGTCAAGGTTTACAATAAGCACTTATCCTAACTGGATCGAGGGAAAAACTAAGGTTGAAAGAAATGGAGTTTGGCAGAGTTTTATTCTCCTTTTCCTTCCTCCTGGAATGAGCTGAACAGAACCTTTCCTCCTGGATTCCATTTTGGGAACCCAGATGTTTTCTCCCCCTCCAGGCACTGGGCATGGAGGTGACCATGGTACCTGGCAAAGGACCCAGCTTCCCAGAGCCATTAAGAGAAGAGCAGGACCTAGAACGCCTACGGGATCCAGAAGTGGTAGCCTCTGAGCTAGGCTATGTGTTCCAAGCCATCACCCTTACCCGACAACGACTGGCTGGACGTGTGCCGCTGATTGGCTTTGCTGGTGCCCCAGTAATGTGGGACAGGGCAGGGACTCGGGGCGCGGGGAGATCACTCTGGAAGGTCTGGGGTAGACAAAAGGAAGGGTCAGTCTGGCTTCTGTGACACCATCTTTCTATCCTTCTCTAGTGGACCCTGATGACATACATGGTTGAGGGTGGTGGCTCAAGCACCATGGCTCAGGCCAAGCGCTGGCTCTATCAGAGACCTCAGGCTAGTCACCAGCTGCTTCGCATCCTCACTGATGCTCTGGTCCCATATCTGGTAGGACAAGTGGTGGCTGGTGCCCAGGTGAGTCCTGAGAGAGAGAGAAATAGGCTGGGATTTGGTCTGTAAGGACCAGAAGCAAGAGTGTCCTAAACCTGAGAGGGCAGGGGTCTTAATGCCAGGGATGAAAGAACCTTGGCCTCCAGTGATCTAGCGGAGCAGCCAAGCCCATCCTGACACTGACAGTGGGGCTTAATGCTCTAAGTATTCAGACACCAAAGTTAGTGCTGGGATCTGAGGAAAGTAAATTTTTTTTTTTTTAATTACTGGGTTTTTAGGGTCAGGCAGTATCAGGGATTGAAGTCATTTGGGGAAAATTGAGGTGGATTTTGTATGTGGGGGAAACTTCCTCTTTGTGTGTTACATATTTTTCTTCACCATACCCTAACTAGGCATTGCAGCTGTTTGAGTCCCATGCAGGGCATCTTGGCCCACAGCTCTTCAACAAGTTTGCACTGCCTTACATCCGTGATGTGGCCAAGCAAGTGAAGGCCAGGTTGCGGGAGGCAGGCCTGGCACCAGTGCCCATGGTGAGGATTGGGATGGGTTGAGTGAAGGTGGTCCTGTGGAGCTTTCAGGCTAAGTCCTGCATGGACTGGAGTGACCACTGGAGGGCAGCAGAAGTACAGTCAAGAAAGATTAGTGGTTGTAGCAAGGCCCTCTGTAGCCTGAGATCTGCTTTTTTCTAGATCATCTTTGCTAAGGATGGGCATTTTGCCCTGGAGGAGCTGGCCCAAGCTGGCTATGAGGTGGTTGGGCTTGACTGGACAGTGGCCCCAAAGAAAGCCCGGTAAGCCATGGAAGGGTGAGGCCTTGAGGTTGAGGTGGGGGTGTTGGCTGGGGGAGCTGCCATGTATGCAGTTACCAGAACGTGGCGCTGGCTTTGCTTCCAGGGAGTGTGTGGGGAAGACGGTGACATTGCAGGGCAACCTGGACCCCTGTGCCTTGTATGCATCTGAGGTAACAGCCAGGGCCCCTCTGTGTGTCTGTTACTGTGCACTCCTGTGGCTGTGGCTGTATTATTCTGTGTGCACTTGTTTTTAATGTCTGTCTGTCCTTTTCTTCTACTCTGTACAACATAAGCCCTAGAAAGACCGGACTTTTTGTTGCTGTTGTTCATTTGTGTTTATGCTTCATGCCTGGGTCCATACTAGGGATCTGATAAATTTTATTGAATGACTGAATAACACTGAGTAGAAGCATGCCTACATATGCGTTTGTCACTAGTATATATAGGGAGGACAAAGGCTTGCTGGTCCTCCTGTAGCCAGTGCCCTGTTGGTCCCCCAGGAGGAGATCGGGCAGTTGGTGAAGCAGATGCTGGATGACTTTGGACCACATCGCTACATTGCCAACCTGGGCCATGGGCTTTATCCTGACATGGACCCAGAACATGTGGGCGCCTTTGTGGATGCTGTGCATAAACACTCACGTCTGCTTCGACAGAACTGAGTGTATACCTTTACCCTCAAGTACCACTAACACAGATGATTGATCGTTTCCAGGACAATAAAAGTTTCGGAGTTGAACTATTGTGTAGTTTTGTTTGTGAAAGATTGTGCCCATATCCTCAGTTCTTCTTAGCCTCTGCTCCTTCCCTGGGAACCCTCTCTATATCCTCTTCACAAGTCATGGGGGTTAGGTATCAGTGAATATGTACTATAGCACTTAAGGATTCTCATTCCCATCTTACTCTCAGATACCTAAGTCCCAGAACTACATGGGGTAGGGTAGAGCTTTCCTAGCAGTTCAGGTTGTGACATTTGCAGAAAAACGGGTGGGGTCCTCACAACATACAAAGGCCAAATTGATAGGGCTTTATGTCTGGGGAGAAAGGGAAGTATACATCAAAAAGGGGCACAGAAGGGGTTAGAACACTTCAGAGAGGCATGGGGAAGAAGATGGAGTCTAGGCAAGCAGGGAGAAGCTGAGGGACCCTCAGCTTTGACACCAAAATATATAGAGGACATGAAAGCTCAGAGCTAGGTTGCTTAGGATTGGAGCTTTAGACAAGTCGATCATCACCAAAGCAAGAAGTCCTCTGAAACCAAAAGACCCTCTGGCAACTCAAGGTTGCTTTATATTCTTTTCTGAGCATCCCCTTTAATTTTCTCAAGATCTTGGTTATTCCACCCTTCCTGGTGGTACCTGCTTCCCAGGACAAGGCTCTGAGGTGTCTGTAAGCCCTGGGGAAGGGTCTGGTATGGCAAGAAATTCTTTATCTGTCAGTCATTCTGCATCTCCTTAGACCACTAGGCACCCACTGTGCTGTAGGCTGAACCAGCTCCCTGGCCCAGCCAGGGCAATGCAGAAAGGAGAGATGGGTTTCATTTAGTGAGAGAACACAATTTCTGCTTTTAGAAAAATGATCTTTTATGTGATCCATGATTTATTCATAGAAAAGCACTGTGAATTCACACACTTGCTAAAAAAGGGCAACTGTGATACAGAAATGAGAGTGGCTTCTCTCTTTTTTTTAACCAACCCATTGGGCTGAGACGTAGGGGCCCTTGGCTGGACAGTAAGACTTGAGTAGCCACAAATGGCAAATACAACTTCTTGGTCAGTTTGGAGTAAAAAAGGTGACAGTTTGTCGAAGAAAGAAAAAGTAAAGCAGATGGAGAAGTTCTTAGTTCACATTCTAGCTATACCACCCCTTCCCTATCAAACCCCACCCCCAACTCAGGAACTAAGACATGAAACAGTAAACACCAAGACACTGGTTCCAACTGACTTTTCTGAGTGCCCTTGCTACCTCCTATAACAATTCCAGGCTGAGCACAGGGGTCAGGAAGGTAGCAGGA
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AGGAGGCGGAACGGGCGGAAAGCCAGGGTTTGGGAGCTGGCCTGGAGGAGGTAGATAGCGGTCCTGGACTGAATCGGCCTTATGAACCCGCGCTTTCCCCAGCCTCCAGCGTAGCATACTGACACCTACCCCCACCCCCACCTGATCGCCAGACCTCAGGGTTTTCCGGAGCTGAAGAATGACACATTCCTGCGAGCAGCCTGGGGAGAGGAAACAGACTACACTCCCGTTTGGTGCATGCGCCAGGCAGGCCGTTACTTACCAGGTAAGAGTCAGGGTCTGGAAATCTAGATAAAACTCCGGAGGGAGAAAAGTTTTCGAGGGGCAGGGGAGGGCTCTGGAGGGCCTCAAGGCTGAGCCCTGTCTTCCCTCTGTATGCAGAGTTTAGGGAAACCCGGGCTGCCCAGGACTTTTTCAGCACGTGTCGCTCTCCTGAGGCCTGCTGTGAACTGACTCTGCAGGTGAGGGGTCCACAAAAGAGGGAAAGATTTATGCCTTCAGTCTGCCACCTAGCAACCTGTCTCCTGTTTCCTACAGCCACTGCGTCGCTTCCCTCTGGATGCTGCCATCATTTTCTCCGACATCCTTGTTGTACCCCAGGTACCCACTCAAACCTGATCCTAGAATATAATCCAAGGACGCCTTGAAAATCCTTCTATCAGTCCAGTCAAGGTTTACAATAAGCACTTATCCTAACTGGATCGAGGGAAAAACTAAGGTTGAAAGAAATGGAGTTTGGCAGAGTTTTATTCTCCTTTTCCTTCCTCCTGGAATGAGCTGAACAGAACCTTTCCTCCTGGATTCCATTTTGGGAACCCAGATGTTTTCTCCCCCTCCAGGCACTGGGCATGGAGGTGACCATGGTACCTGGCAAAGGACCCAGCTTCCCAGAGCCATTAAGAGAAGAGCAGGACCTAGAACGCCTACGGGATCCAGAAGTGGTAGCCTCTGAGCTAGGCTATGTGTTCCAAGCCATCACCCTTACCCGACAACGACTGGCTGGACGTGTGCCGCTGATTGGCTTTGCTGGTGCCCCAGTAATGTGGGACAGGGCAGGGACTCGGGGCGCGGGGAGATCACTCTGGAAGGTCTGGGGTAGACAAAAGGAAGGGTCAGTCTGGCTTCTGTGACACCATCTTTCTATCCTTCTCTAGTGGACCCTGATGACATACATGGTTGAGGGTGGTGGCTCAAGCACCATGGCTCAGGCCAAGCGCTGGCTCTATCAGAGACCTCAGGCTAGTCACCAGCTGCTTCGCATCCTCACTGATGCTCTGGTCCCATATCTGGTAGGACAAGTGGTGGCTGGTGCCCAGGTGAGTCCTGAGAGAGAGAGAAATAGGCTGGGATTTGGTCTGTAAGGACCAGAAGCAAGAGTGTCCTAAACCTGAGAGGGCAGGGGTCTTAATGCCAGGGATGAAAGAACCTTGGCCTCCAGTGATCTAGCGGAGCAGCCAAGCCCATCCTGACACTGACAGTGGGGCTTAATGCTCTAAGTATTCAGACACCAAAGTTAGTGCTGGGATCTGAGGAAAGTAAATTTTTTTTTTTTTAATTACTGGGTTTTTAGGGTCAGGCAGTATCAGGGATTGAAGTCATTTGGGGAAAATTGAGGTGGATTTTGTATGTGGGGGAAACTTCCTCTTTGTGTGTTACATATTTTTCTTCACCATACCCTAACTAGGCATTGCAGCTGTTTGAGTCCCATGCAGGGCATCTTGGCCCACAGCTCTTCAACAAGTTTGCACTGCCTTACATCCGTGATGTGGCCAAGCAAGTGAAGGCCAGGTTGCGGGAGGCAGGCCTGGCACCAGTGCCCATGGTGAGGATTGGGATGGGTTGAGTGAAGGTGGTCCTGTGGAGCTTTCAGGCTAAGTCCTGCATGGACTGGAGTGACCACTGGAGGGCAGCAGAAGTACAGTCAAGAAAGATTAGTGGTTGTAGCAAGGCCCTCTGTAGCCTGAGATCTGCTTTTTTCTAGATCATCTTTGCTAAGGATGGGCATTTTGCCCTGGAGGAGCTGGCCCAAGCTGGCTATGAGGTGGTTGAGCTTGACTGGACAGTGGCCCCAAAGAAAGCCCGGTAAGCCATGGAAGGGTGAGGCCTTGAGGTTGAGGTGGGGGTGTTGGCTGGGGGAGCTGCCATGTATGCAGTTACCAGAACGTGGCGCTGGCTTTGCTTCCAGGGAGTGTGTGGGGAAGACGGTGACATTGCAGGGCAACCTGGACCCCTGTGCCTTGTATGCATCTGAGGTAACAGCCAGGGCCCCTCTGTGTGTCTGTTACTGTGCACTCCTGTGGCTGTGGCTGTATTATTCTGTGTGCACTTGTTTTTAATGTCTGTCTGTCCTTTTCTTCTACTCTGTACAACATAAGCCCTAGAAAGACCGGACTTTTTGTTGCTGTTGTTCATTTGTGTTTATGCTTCATGCCTGGGTCCATACTAGGGATCTGATAAATTTTATTGAATGACTGAATAACACTGAGTAGAAGCATGCCTACATATGCGTTTGTCACTAGTATATATAGGGAGGACAAAGGCTTGCTGGTCCTCCTGTAGCCAGTGCCCTGTTGGTCCCCCAGGAGGAGATCGGGCAGTTGGTGAAGCAGATGCTGGATGACTTTGGACCACATCGCTACATTGCCAACCTGGGCCATGGGCTTTATCCTGACATGGACCCAGAACATGTGGGCGCCTTTGTGGATGCTGTGCATAAACACTCACGTCTGCTTCGACAGAACTGAGTGTATACCTTTACCCTCAAGTACCACTAACACAGATGATTGATCGTTTCCAGGACAATAAAAGTTTCGGAGTTGAACTATTGTGTAGTTTTGTTTGTGAAAGATTGTGCCCATATCCTCAGTTCTTCTTAGCCTCTGCTCCTTCCCTGGGAACCCTCTCTATATCCTCTTCACAAGTCATGGGGGTTAGGTATCAGTGAATATGTACTATAGCACTTAAGGATTCTCATTCCCATCTTACTCTCAGATACCTAAGTCCCAGAACTACATGGGGTAGGGTAGAGCTTTCCTAGCAGTTCAGGTTGTGACATTTGCAGAAAAACGGGTGGGGTCCTCACAACATACAAAGGCCAAATTGATAGGGCTTTATGTCTGGGGAGAAAGGGAAGTATACATCAAAAAGGGGCACAGAAGGGGTTAGAACACTTCAGAGAGGCATGGGGAAGAAGATGGAGTCTAGGCAAGCAGGGAGAAGCTGAGGGACCCTCAGCTTTGACACCAAAATATATAGAGGACATGAAAGCTCAGAGCTAGGTTGCTTAGGATTGGAGCTTTAGACAAGTCGATCATCACCAAAGCAAGAAGTCCTCTGAAACCAAAAGACCCTCTGGCAACTCAAGGTTGCTTTATATTCTTTTCTGAGCATCCCCTTTAATTTTCTCAAGATCTTGGTTATTCCACCCTTCCTGGTGGTACCTGCTTCCCAGGACAAGGCTCTGAGGTGTCTGTAAGCCCTGGGGAAGGGTCTGGTATGGCAAGAAATTCTTTATCTGTCAGTCATTCTGCATCTCCTTAGACCACTAGGCACCCACTGTGCTGTAGGCTGAACCAGCTCCCTGGCCCAGCCAGGGCAATGCAGAAAGGAGAGATGGGTTTCATTTAGTGAGAGAACACAATTTCTGCTTTTAGAAAAATGATCTTTTATGTGATCCATGATTTATTCATAGAAAAGCACTGTGAATTCACACACTTGCTAAAAAAGGGCAACTGTGATACAGAAATGAGAGTGGCTTCTCTCTTTTTTTTAACCAACCCATTGGGCTGAGACGTAGGGGCCCTTGGCTGGACAGTAAGACTTGAGTAGCCACAAATGGCAAATACAACTTCTTGGTCAGTTTGGAGTAAAAAAGGTGACAGTTTGTCGAAGAAAGAAAAAGTAAAGCAGATGGAGAAGTTCTTAGTTCACATTCTAGCTATACCACCCCTTCCCTATCAAACCCCACCCCCAACTCAGGAACTAAGACATGAAACAGTAAACACCAAGACACTGGTTCCAACTGACTTTTCTGAGTGCCCTTGCTACCTCCTATAACAATTCCAGGCTGAGCACAGGGGTCAGGAAGGTAGCAGGA
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Task1_train_840
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Chromosome 1 houses a mutation in gene UROD (uroporphyrinogen decarboxylase). Classify its clinical impact — is it pathogenic or benign, and what disease does it lead to if any?
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Pathogenic; not provided
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AGGAGGCGGAACGGGCGGAAAGCCAGGGTTTGGGAGCTGGCCTGGAGGAGGTAGATAGCGGTCCTGGACTGAATCGGCCTTATGAACCCGCGCTTTCCCCAGCCTCCAGCGTAGCATACTGACACCTACCCCCACCCCCACCTGATCGCCAGACCTCAGGGTTTTCCGGAGCTGAAGAATGACACATTCCTGCGAGCAGCCTGGGGAGAGGAAACAGACTACACTCCCGTTTGGTGCATGCGCCAGGCAGGCCGTTACTTACCAGGTAAGAGTCAGGGTCTGGAAATCTAGATAAAACTCCGGAGGGAGAAAAGTTTTCGAGGGGCAGGGGAGGGCTCTGGAGGGCCTCAAGGCTGAGCCCTGTCTTCCCTCTGTATGCAGAGTTTAGGGAAACCCGGGCTGCCCAGGACTTTTTCAGCACGTGTCGCTCTCCTGAGGCCTGCTGTGAACTGACTCTGCAGGTGAGGGGTCCACAAAAGAGGGAAAGATTTATGCCTTCAGTCTGCCACCTAGCAACCTGTCTCCTGTTTCCTACAGCCACTGCGTCGCTTCCCTCTGGATGCTGCCATCATTTTCTCCGACATCCTTGTTGTACCCCAGGTACCCACTCAAACCTGATCCTAGAATATAATCCAAGGACGCCTTGAAAATCCTTCTATCAGTCCAGTCAAGGTTTACAATAAGCACTTATCCTAACTGGATCGAGGGAAAAACTAAGGTTGAAAGAAATGGAGTTTGGCAGAGTTTTATTCTCCTTTTCCTTCCTCCTGGAATGAGCTGAACAGAACCTTTCCTCCTGGATTCCATTTTGGGAACCCAGATGTTTTCTCCCCCTCCAGGCACTGGGCATGGAGGTGACCATGGTACCTGGCAAAGGACCCAGCTTCCCAGAGCCATTAAGAGAAGAGCAGGACCTAGAACGCCTACGGGATCCAGAAGTGGTAGCCTCTGAGCTAGGCTATGTGTTCCAAGCCATCACCCTTACCCGACAACGACTGGCTGGACGTGTGCCGCTGATTGGCTTTGCTGGTGCCCCAGTAATGTGGGACAGGGCAGGGACTCGGGGCGCGGGGAGATCACTCTGGAAGGTCTGGGGTAGACAAAAGGAAGGGTCAGTCTGGCTTCTGTGACACCATCTTTCTATCCTTCTCTAGTGGACCCTGATGACATACATGGTTGAGGGTGGTGGCTCAAGCACCATGGCTCAGGCCAAGCGCTGGCTCTATCAGAGACCTCAGGCTAGTCACCAGCTGCTTCGCATCCTCACTGATGCTCTGGTCCCATATCTGGTAGGACAAGTGGTGGCTGGTGCCCAGGTGAGTCCTGAGAGAGAGAGAAATAGGCTGGGATTTGGTCTGTAAGGACCAGAAGCAAGAGTGTCCTAAACCTGAGAGGGCAGGGGTCTTAATGCCAGGGATGAAAGAACCTTGGCCTCCAGTGATCTAGCGGAGCAGCCAAGCCCATCCTGACACTGACAGTGGGGCTTAATGCTCTAAGTATTCAGACACCAAAGTTAGTGCTGGGATCTGAGGAAAGTAAATTTTTTTTTTTTTAATTACTGGGTTTTTAGGGTCAGGCAGTATCAGGGATTGAAGTCATTTGGGGAAAATTGAGGTGGATTTTGTATGTGGGGGAAACTTCCTCTTTGTGTGTTACATATTTTTCTTCACCATACCCTAACTAGGCATTGCAGCTGTTTGAGTCCCATGCAGGGCATCTTGGCCCACAGCTCTTCAACAAGTTTGCACTGCCTTACATCCGTGATGTGGCCAAGCAAGTGAAGGCCAGGTTGCGGGAGGCAGGCCTGGCACCAGTGCCCATGGTGAGGATTGGGATGGGTTGAGTGAAGGTGGTCCTGTGGAGCTTTCAGGCTAAGTCCTGCATGGACTGGAGTGACCACTGGAGGGCAGCAGAAGTACAGTCAAGAAAGATTAGTGGTTGTAGCAAGGCCCTCTGTAGCCTGAGATCTGCTTTTTTCTAGATCATCTTTGCTAAGGATGGGCATTTTGCCCTGGAGGAGCTGGCCCAAGCTGGCTATGAGGTGGTTGGGCTTGACTGGACAGTGGCCCCAAAGAAAGCCCGGTAAGCCATGGAAGGGTGAGGCCTTGAGGTTGAGGTGGGGGTGTTGGCTGGGGGAGCTGCCATGTATGCAGTTACCAGAACGTGGCGCTGGCTTTGCTTCCAGGGAGTGTGTGGGGAAGACGGTGACATTGCAGGGCAACCTGGACCCCTGTGCCTTGTATGCATCTGAGGTAACAGCCAGGGCCCCTCTGTGTGTCTGTTACTGTGCACTCCTGTGGCTGTGGCTGTATTATTCTGTGTGCACTTGTTTTTAATGTCTGTCTGTCCTTTTCTTCTACTCTGTACAACATAAGCCCTAGAAAGACCGGACTTTTTGTTGCTGTTGTTCATTTGTGTTTATGCTTCATGCCTGGGTCCATACTAGGGATCTGATAAATTTTATTGAATGACTGAATAACACTGAGTAGAAGCATGCCTACATATGCGTTTGTCACTAGTATATATAGGGAGGACAAAGGCTTGCTGGTCCTCCTGTAGCCAGTGCCCTGTTGGTCCCCCAGGAGGAGATCGGGCAGTTGGTGAAGCAGATGCTGGATGACTTTGGACCACATCGCTACATTGCCAACCTGGGCCATGGGCTTTATCCTGACATGGACCCAGAACATGTGGGCGCCTTTGTGGATGCTGTGCATAAACACTCACGTCTGCTTCGACAGAACTGAGTGTATACCTTTACCCTCAAGTACCACTAACACAGATGATTGATCGTTTCCAGGACAATAAAAGTTTCGGAGTTGAACTATTGTGTAGTTTTGTTTGTGAAAGATTGTGCCCATATCCTCAGTTCTTCTTAGCCTCTGCTCCTTCCCTGGGAACCCTCTCTATATCCTCTTCACAAGTCATGGGGGTTAGGTATCAGTGAATATGTACTATAGCACTTAAGGATTCTCATTCCCATCTTACTCTCAGATACCTAAGTCCCAGAACTACATGGGGTAGGGTAGAGCTTTCCTAGCAGTTCAGGTTGTGACATTTGCAGAAAAACGGGTGGGGTCCTCACAACATACAAAGGCCAAATTGATAGGGCTTTATGTCTGGGGAGAAAGGGAAGTATACATCAAAAAGGGGCACAGAAGGGGTTAGAACACTTCAGAGAGGCATGGGGAAGAAGATGGAGTCTAGGCAAGCAGGGAGAAGCTGAGGGACCCTCAGCTTTGACACCAAAATATATAGAGGACATGAAAGCTCAGAGCTAGGTTGCTTAGGATTGGAGCTTTAGACAAGTCGATCATCACCAAAGCAAGAAGTCCTCTGAAACCAAAAGACCCTCTGGCAACTCAAGGTTGCTTTATATTCTTTTCTGAGCATCCCCTTTAATTTTCTCAAGATCTTGGTTATTCCACCCTTCCTGGTGGTACCTGCTTCCCAGGACAAGGCTCTGAGGTGTCTGTAAGCCCTGGGGAAGGGTCTGGTATGGCAAGAAATTCTTTATCTGTCAGTCATTCTGCATCTCCTTAGACCACTAGGCACCCACTGTGCTGTAGGCTGAACCAGCTCCCTGGCCCAGCCAGGGCAATGCAGAAAGGAGAGATGGGTTTCATTTAGTGAGAGAACACAATTTCTGCTTTTAGAAAAATGATCTTTTATGTGATCCATGATTTATTCATAGAAAAGCACTGTGAATTCACACACTTGCTAAAAAAGGGCAACTGTGATACAGAAATGAGAGTGGCTTCTCTCTTTTTTTTAACCAACCCATTGGGCTGAGACGTAGGGGCCCTTGGCTGGACAGTAAGACTTGAGTAGCCACAAATGGCAAATACAACTTCTTGGTCAGTTTGGAGTAAAAAAGGTGACAGTTTGTCGAAGAAAGAAAAAGTAAAGCAGATGGAGAAGTTCTTAGTTCACATTCTAGCTATACCACCCCTTCCCTATCAAACCCCACCCCCAACTCAGGAACTAAGACATGAAACAGTAAACACCAAGACACTGGTTCCAACTGACTTTTCTGAGTGCCCTTGCTACCTCCTATAACAATTCCAGGCTGAGCACAGGGGTCAGGAAGGTAGCAGGA
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AGGAGGCGGAACGGGCGGAAAGCCAGGGTTTGGGAGCTGGCCTGGAGGAGGTAGATAGCGGTCCTGGACTGAATCGGCCTTATGAACCCGCGCTTTCCCCAGCCTCCAGCGTAGCATACTGACACCTACCCCCACCCCCACCTGATCGCCAGACCTCAGGGTTTTCCGGAGCTGAAGAATGACACATTCCTGCGAGCAGCCTGGGGAGAGGAAACAGACTACACTCCCGTTTGGTGCATGCGCCAGGCAGGCCGTTACTTACCAGGTAAGAGTCAGGGTCTGGAAATCTAGATAAAACTCCGGAGGGAGAAAAGTTTTCGAGGGGCAGGGGAGGGCTCTGGAGGGCCTCAAGGCTGAGCCCTGTCTTCCCTCTGTATGCAGAGTTTAGGGAAACCCGGGCTGCCCAGGACTTTTTCAGCACGTGTCGCTCTCCTGAGGCCTGCTGTGAACTGACTCTGCAGGTGAGGGGTCCACAAAAGAGGGAAAGATTTATGCCTTCAGTCTGCCACCTAGCAACCTGTCTCCTGTTTCCTACAGCCACTGCGTCGCTTCCCTCTGGATGCTGCCATCATTTTCTCCGACATCCTTGTTGTACCCCAGGTACCCACTCAAACCTGATCCTAGAATATAATCCAAGGACGCCTTGAAAATCCTTCTATCAGTCCAGTCAAGGTTTACAATAAGCACTTATCCTAACTGGATCGAGGGAAAAACTAAGGTTGAAAGAAATGGAGTTTGGCAGAGTTTTATTCTCCTTTTCCTTCCTCCTGGAATGAGCTGAACAGAACCTTTCCTCCTGGATTCCATTTTGGGAACCCAGATGTTTTCTCCCCCTCCAGGCACTGGGCATGGAGGTGACCATGGTACCTGGCAAAGGACCCAGCTTCCCAGAGCCATTAAGAGAAGAGCAGGACCTAGAACGCCTACGGGATCCAGAAGTGGTAGCCTCTGAGCTAGGCTATGTGTTCCAAGCCATCACCCTTACCCGACAACGACTGGCTGGACGTGTGCCGCTGATTGGCTTTGCTGGTGCCCCAGTAATGTGGGACAGGGCAGGGACTCGGGGCGCGGGGAGATCACTCTGGAAGGTCTGGGGTAGACAAAAGGAAGGGTCAGTCTGGCTTCTGTGACACCATCTTTCTATCCTTCTCTAGTGGACCCTGATGACATACATGGTTGAGGGTGGTGGCTCAAGCACCATGGCTCAGGCCAAGCGCTGGCTCTATCAGAGACCTCAGGCTAGTCACCAGCTGCTTCGCATCCTCACTGATGCTCTGGTCCCATATCTGGTAGGACAAGTGGTGGCTGGTGCCCAGGTGAGTCCTGAGAGAGAGAGAAATAGGCTGGGATTTGGTCTGTAAGGACCAGAAGCAAGAGTGTCCTAAACCTGAGAGGGCAGGGGTCTTAATGCCAGGGATGAAAGAACCTTGGCCTCCAGTGATCTAGCGGAGCAGCCAAGCCCATCCTGACACTGACAGTGGGGCTTAATGCTCTAAGTATTCAGACACCAAAGTTAGTGCTGGGATCTGAGGAAAGTAAATTTTTTTTTTTTTAATTACTGGGTTTTTAGGGTCAGGCAGTATCAGGGATTGAAGTCATTTGGGGAAAATTGAGGTGGATTTTGTATGTGGGGGAAACTTCCTCTTTGTGTGTTACATATTTTTCTTCACCATACCCTAACTAGGCATTGCAGCTGTTTGAGTCCCATGCAGGGCATCTTGGCCCACAGCTCTTCAACAAGTTTGCACTGCCTTACATCCGTGATGTGGCCAAGCAAGTGAAGGCCAGGTTGCGGGAGGCAGGCCTGGCACCAGTGCCCATGGTGAGGATTGGGATGGGTTGAGTGAAGGTGGTCCTGTGGAGCTTTCAGGCTAAGTCCTGCATGGACTGGAGTGACCACTGGAGGGCAGCAGAAGTACAGTCAAGAAAGATTAGTGGTTGTAGCAAGGCCCTCTGTAGCCTGAGATCTGCTTTTTTCTAGATCATCTTTGCTAAGGATGGGCATTTTGCCCTGGAGGAGCTGGCCCAAGCTGGCTATGAGGTGGTTGTGCTTGACTGGACAGTGGCCCCAAAGAAAGCCCGGTAAGCCATGGAAGGGTGAGGCCTTGAGGTTGAGGTGGGGGTGTTGGCTGGGGGAGCTGCCATGTATGCAGTTACCAGAACGTGGCGCTGGCTTTGCTTCCAGGGAGTGTGTGGGGAAGACGGTGACATTGCAGGGCAACCTGGACCCCTGTGCCTTGTATGCATCTGAGGTAACAGCCAGGGCCCCTCTGTGTGTCTGTTACTGTGCACTCCTGTGGCTGTGGCTGTATTATTCTGTGTGCACTTGTTTTTAATGTCTGTCTGTCCTTTTCTTCTACTCTGTACAACATAAGCCCTAGAAAGACCGGACTTTTTGTTGCTGTTGTTCATTTGTGTTTATGCTTCATGCCTGGGTCCATACTAGGGATCTGATAAATTTTATTGAATGACTGAATAACACTGAGTAGAAGCATGCCTACATATGCGTTTGTCACTAGTATATATAGGGAGGACAAAGGCTTGCTGGTCCTCCTGTAGCCAGTGCCCTGTTGGTCCCCCAGGAGGAGATCGGGCAGTTGGTGAAGCAGATGCTGGATGACTTTGGACCACATCGCTACATTGCCAACCTGGGCCATGGGCTTTATCCTGACATGGACCCAGAACATGTGGGCGCCTTTGTGGATGCTGTGCATAAACACTCACGTCTGCTTCGACAGAACTGAGTGTATACCTTTACCCTCAAGTACCACTAACACAGATGATTGATCGTTTCCAGGACAATAAAAGTTTCGGAGTTGAACTATTGTGTAGTTTTGTTTGTGAAAGATTGTGCCCATATCCTCAGTTCTTCTTAGCCTCTGCTCCTTCCCTGGGAACCCTCTCTATATCCTCTTCACAAGTCATGGGGGTTAGGTATCAGTGAATATGTACTATAGCACTTAAGGATTCTCATTCCCATCTTACTCTCAGATACCTAAGTCCCAGAACTACATGGGGTAGGGTAGAGCTTTCCTAGCAGTTCAGGTTGTGACATTTGCAGAAAAACGGGTGGGGTCCTCACAACATACAAAGGCCAAATTGATAGGGCTTTATGTCTGGGGAGAAAGGGAAGTATACATCAAAAAGGGGCACAGAAGGGGTTAGAACACTTCAGAGAGGCATGGGGAAGAAGATGGAGTCTAGGCAAGCAGGGAGAAGCTGAGGGACCCTCAGCTTTGACACCAAAATATATAGAGGACATGAAAGCTCAGAGCTAGGTTGCTTAGGATTGGAGCTTTAGACAAGTCGATCATCACCAAAGCAAGAAGTCCTCTGAAACCAAAAGACCCTCTGGCAACTCAAGGTTGCTTTATATTCTTTTCTGAGCATCCCCTTTAATTTTCTCAAGATCTTGGTTATTCCACCCTTCCTGGTGGTACCTGCTTCCCAGGACAAGGCTCTGAGGTGTCTGTAAGCCCTGGGGAAGGGTCTGGTATGGCAAGAAATTCTTTATCTGTCAGTCATTCTGCATCTCCTTAGACCACTAGGCACCCACTGTGCTGTAGGCTGAACCAGCTCCCTGGCCCAGCCAGGGCAATGCAGAAAGGAGAGATGGGTTTCATTTAGTGAGAGAACACAATTTCTGCTTTTAGAAAAATGATCTTTTATGTGATCCATGATTTATTCATAGAAAAGCACTGTGAATTCACACACTTGCTAAAAAAGGGCAACTGTGATACAGAAATGAGAGTGGCTTCTCTCTTTTTTTTAACCAACCCATTGGGCTGAGACGTAGGGGCCCTTGGCTGGACAGTAAGACTTGAGTAGCCACAAATGGCAAATACAACTTCTTGGTCAGTTTGGAGTAAAAAAGGTGACAGTTTGTCGAAGAAAGAAAAAGTAAAGCAGATGGAGAAGTTCTTAGTTCACATTCTAGCTATACCACCCCTTCCCTATCAAACCCCACCCCCAACTCAGGAACTAAGACATGAAACAGTAAACACCAAGACACTGGTTCCAACTGACTTTTCTGAGTGCCCTTGCTACCTCCTATAACAATTCCAGGCTGAGCACAGGGGTCAGGAAGGTAGCAGGA
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Task1_train_841
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A mutation in UROD (uroporphyrinogen decarboxylase), located on Chromosome 1, is being studied. Determine whether it’s pathogenic or benign, and specify the linked disease.
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Pathogenic; Hepatoerythropoietic porphyria
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GGAGCTGGCCTGGAGGAGGTAGATAGCGGTCCTGGACTGAATCGGCCTTATGAACCCGCGCTTTCCCCAGCCTCCAGCGTAGCATACTGACACCTACCCCCACCCCCACCTGATCGCCAGACCTCAGGGTTTTCCGGAGCTGAAGAATGACACATTCCTGCGAGCAGCCTGGGGAGAGGAAACAGACTACACTCCCGTTTGGTGCATGCGCCAGGCAGGCCGTTACTTACCAGGTAAGAGTCAGGGTCTGGAAATCTAGATAAAACTCCGGAGGGAGAAAAGTTTTCGAGGGGCAGGGGAGGGCTCTGGAGGGCCTCAAGGCTGAGCCCTGTCTTCCCTCTGTATGCAGAGTTTAGGGAAACCCGGGCTGCCCAGGACTTTTTCAGCACGTGTCGCTCTCCTGAGGCCTGCTGTGAACTGACTCTGCAGGTGAGGGGTCCACAAAAGAGGGAAAGATTTATGCCTTCAGTCTGCCACCTAGCAACCTGTCTCCTGTTTCCTACAGCCACTGCGTCGCTTCCCTCTGGATGCTGCCATCATTTTCTCCGACATCCTTGTTGTACCCCAGGTACCCACTCAAACCTGATCCTAGAATATAATCCAAGGACGCCTTGAAAATCCTTCTATCAGTCCAGTCAAGGTTTACAATAAGCACTTATCCTAACTGGATCGAGGGAAAAACTAAGGTTGAAAGAAATGGAGTTTGGCAGAGTTTTATTCTCCTTTTCCTTCCTCCTGGAATGAGCTGAACAGAACCTTTCCTCCTGGATTCCATTTTGGGAACCCAGATGTTTTCTCCCCCTCCAGGCACTGGGCATGGAGGTGACCATGGTACCTGGCAAAGGACCCAGCTTCCCAGAGCCATTAAGAGAAGAGCAGGACCTAGAACGCCTACGGGATCCAGAAGTGGTAGCCTCTGAGCTAGGCTATGTGTTCCAAGCCATCACCCTTACCCGACAACGACTGGCTGGACGTGTGCCGCTGATTGGCTTTGCTGGTGCCCCAGTAATGTGGGACAGGGCAGGGACTCGGGGCGCGGGGAGATCACTCTGGAAGGTCTGGGGTAGACAAAAGGAAGGGTCAGTCTGGCTTCTGTGACACCATCTTTCTATCCTTCTCTAGTGGACCCTGATGACATACATGGTTGAGGGTGGTGGCTCAAGCACCATGGCTCAGGCCAAGCGCTGGCTCTATCAGAGACCTCAGGCTAGTCACCAGCTGCTTCGCATCCTCACTGATGCTCTGGTCCCATATCTGGTAGGACAAGTGGTGGCTGGTGCCCAGGTGAGTCCTGAGAGAGAGAGAAATAGGCTGGGATTTGGTCTGTAAGGACCAGAAGCAAGAGTGTCCTAAACCTGAGAGGGCAGGGGTCTTAATGCCAGGGATGAAAGAACCTTGGCCTCCAGTGATCTAGCGGAGCAGCCAAGCCCATCCTGACACTGACAGTGGGGCTTAATGCTCTAAGTATTCAGACACCAAAGTTAGTGCTGGGATCTGAGGAAAGTAAATTTTTTTTTTTTTAATTACTGGGTTTTTAGGGTCAGGCAGTATCAGGGATTGAAGTCATTTGGGGAAAATTGAGGTGGATTTTGTATGTGGGGGAAACTTCCTCTTTGTGTGTTACATATTTTTCTTCACCATACCCTAACTAGGCATTGCAGCTGTTTGAGTCCCATGCAGGGCATCTTGGCCCACAGCTCTTCAACAAGTTTGCACTGCCTTACATCCGTGATGTGGCCAAGCAAGTGAAGGCCAGGTTGCGGGAGGCAGGCCTGGCACCAGTGCCCATGGTGAGGATTGGGATGGGTTGAGTGAAGGTGGTCCTGTGGAGCTTTCAGGCTAAGTCCTGCATGGACTGGAGTGACCACTGGAGGGCAGCAGAAGTACAGTCAAGAAAGATTAGTGGTTGTAGCAAGGCCCTCTGTAGCCTGAGATCTGCTTTTTTCTAGATCATCTTTGCTAAGGATGGGCATTTTGCCCTGGAGGAGCTGGCCCAAGCTGGCTATGAGGTGGTTGGGCTTGACTGGACAGTGGCCCCAAAGAAAGCCCGGTAAGCCATGGAAGGGTGAGGCCTTGAGGTTGAGGTGGGGGTGTTGGCTGGGGGAGCTGCCATGTATGCAGTTACCAGAACGTGGCGCTGGCTTTGCTTCCAGGGAGTGTGTGGGGAAGACGGTGACATTGCAGGGCAACCTGGACCCCTGTGCCTTGTATGCATCTGAGGTAACAGCCAGGGCCCCTCTGTGTGTCTGTTACTGTGCACTCCTGTGGCTGTGGCTGTATTATTCTGTGTGCACTTGTTTTTAATGTCTGTCTGTCCTTTTCTTCTACTCTGTACAACATAAGCCCTAGAAAGACCGGACTTTTTGTTGCTGTTGTTCATTTGTGTTTATGCTTCATGCCTGGGTCCATACTAGGGATCTGATAAATTTTATTGAATGACTGAATAACACTGAGTAGAAGCATGCCTACATATGCGTTTGTCACTAGTATATATAGGGAGGACAAAGGCTTGCTGGTCCTCCTGTAGCCAGTGCCCTGTTGGTCCCCCAGGAGGAGATCGGGCAGTTGGTGAAGCAGATGCTGGATGACTTTGGACCACATCGCTACATTGCCAACCTGGGCCATGGGCTTTATCCTGACATGGACCCAGAACATGTGGGCGCCTTTGTGGATGCTGTGCATAAACACTCACGTCTGCTTCGACAGAACTGAGTGTATACCTTTACCCTCAAGTACCACTAACACAGATGATTGATCGTTTCCAGGACAATAAAAGTTTCGGAGTTGAACTATTGTGTAGTTTTGTTTGTGAAAGATTGTGCCCATATCCTCAGTTCTTCTTAGCCTCTGCTCCTTCCCTGGGAACCCTCTCTATATCCTCTTCACAAGTCATGGGGGTTAGGTATCAGTGAATATGTACTATAGCACTTAAGGATTCTCATTCCCATCTTACTCTCAGATACCTAAGTCCCAGAACTACATGGGGTAGGGTAGAGCTTTCCTAGCAGTTCAGGTTGTGACATTTGCAGAAAAACGGGTGGGGTCCTCACAACATACAAAGGCCAAATTGATAGGGCTTTATGTCTGGGGAGAAAGGGAAGTATACATCAAAAAGGGGCACAGAAGGGGTTAGAACACTTCAGAGAGGCATGGGGAAGAAGATGGAGTCTAGGCAAGCAGGGAGAAGCTGAGGGACCCTCAGCTTTGACACCAAAATATATAGAGGACATGAAAGCTCAGAGCTAGGTTGCTTAGGATTGGAGCTTTAGACAAGTCGATCATCACCAAAGCAAGAAGTCCTCTGAAACCAAAAGACCCTCTGGCAACTCAAGGTTGCTTTATATTCTTTTCTGAGCATCCCCTTTAATTTTCTCAAGATCTTGGTTATTCCACCCTTCCTGGTGGTACCTGCTTCCCAGGACAAGGCTCTGAGGTGTCTGTAAGCCCTGGGGAAGGGTCTGGTATGGCAAGAAATTCTTTATCTGTCAGTCATTCTGCATCTCCTTAGACCACTAGGCACCCACTGTGCTGTAGGCTGAACCAGCTCCCTGGCCCAGCCAGGGCAATGCAGAAAGGAGAGATGGGTTTCATTTAGTGAGAGAACACAATTTCTGCTTTTAGAAAAATGATCTTTTATGTGATCCATGATTTATTCATAGAAAAGCACTGTGAATTCACACACTTGCTAAAAAAGGGCAACTGTGATACAGAAATGAGAGTGGCTTCTCTCTTTTTTTTAACCAACCCATTGGGCTGAGACGTAGGGGCCCTTGGCTGGACAGTAAGACTTGAGTAGCCACAAATGGCAAATACAACTTCTTGGTCAGTTTGGAGTAAAAAAGGTGACAGTTTGTCGAAGAAAGAAAAAGTAAAGCAGATGGAGAAGTTCTTAGTTCACATTCTAGCTATACCACCCCTTCCCTATCAAACCCCACCCCCAACTCAGGAACTAAGACATGAAACAGTAAACACCAAGACACTGGTTCCAACTGACTTTTCTGAGTGCCCTTGCTACCTCCTATAACAATTCCAGGCTGAGCACAGGGGTCAGGAAGGTAGCAGGAACATGATACACTATGGAGGTCAGCCAGGGCTA
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GGAGCTGGCCTGGAGGAGGTAGATAGCGGTCCTGGACTGAATCGGCCTTATGAACCCGCGCTTTCCCCAGCCTCCAGCGTAGCATACTGACACCTACCCCCACCCCCACCTGATCGCCAGACCTCAGGGTTTTCCGGAGCTGAAGAATGACACATTCCTGCGAGCAGCCTGGGGAGAGGAAACAGACTACACTCCCGTTTGGTGCATGCGCCAGGCAGGCCGTTACTTACCAGGTAAGAGTCAGGGTCTGGAAATCTAGATAAAACTCCGGAGGGAGAAAAGTTTTCGAGGGGCAGGGGAGGGCTCTGGAGGGCCTCAAGGCTGAGCCCTGTCTTCCCTCTGTATGCAGAGTTTAGGGAAACCCGGGCTGCCCAGGACTTTTTCAGCACGTGTCGCTCTCCTGAGGCCTGCTGTGAACTGACTCTGCAGGTGAGGGGTCCACAAAAGAGGGAAAGATTTATGCCTTCAGTCTGCCACCTAGCAACCTGTCTCCTGTTTCCTACAGCCACTGCGTCGCTTCCCTCTGGATGCTGCCATCATTTTCTCCGACATCCTTGTTGTACCCCAGGTACCCACTCAAACCTGATCCTAGAATATAATCCAAGGACGCCTTGAAAATCCTTCTATCAGTCCAGTCAAGGTTTACAATAAGCACTTATCCTAACTGGATCGAGGGAAAAACTAAGGTTGAAAGAAATGGAGTTTGGCAGAGTTTTATTCTCCTTTTCCTTCCTCCTGGAATGAGCTGAACAGAACCTTTCCTCCTGGATTCCATTTTGGGAACCCAGATGTTTTCTCCCCCTCCAGGCACTGGGCATGGAGGTGACCATGGTACCTGGCAAAGGACCCAGCTTCCCAGAGCCATTAAGAGAAGAGCAGGACCTAGAACGCCTACGGGATCCAGAAGTGGTAGCCTCTGAGCTAGGCTATGTGTTCCAAGCCATCACCCTTACCCGACAACGACTGGCTGGACGTGTGCCGCTGATTGGCTTTGCTGGTGCCCCAGTAATGTGGGACAGGGCAGGGACTCGGGGCGCGGGGAGATCACTCTGGAAGGTCTGGGGTAGACAAAAGGAAGGGTCAGTCTGGCTTCTGTGACACCATCTTTCTATCCTTCTCTAGTGGACCCTGATGACATACATGGTTGAGGGTGGTGGCTCAAGCACCATGGCTCAGGCCAAGCGCTGGCTCTATCAGAGACCTCAGGCTAGTCACCAGCTGCTTCGCATCCTCACTGATGCTCTGGTCCCATATCTGGTAGGACAAGTGGTGGCTGGTGCCCAGGTGAGTCCTGAGAGAGAGAGAAATAGGCTGGGATTTGGTCTGTAAGGACCAGAAGCAAGAGTGTCCTAAACCTGAGAGGGCAGGGGTCTTAATGCCAGGGATGAAAGAACCTTGGCCTCCAGTGATCTAGCGGAGCAGCCAAGCCCATCCTGACACTGACAGTGGGGCTTAATGCTCTAAGTATTCAGACACCAAAGTTAGTGCTGGGATCTGAGGAAAGTAAATTTTTTTTTTTTTAATTACTGGGTTTTTAGGGTCAGGCAGTATCAGGGATTGAAGTCATTTGGGGAAAATTGAGGTGGATTTTGTATGTGGGGGAAACTTCCTCTTTGTGTGTTACATATTTTTCTTCACCATACCCTAACTAGGCATTGCAGCTGTTTGAGTCCCATGCAGGGCATCTTGGCCCACAGCTCTTCAACAAGTTTGCACTGCCTTACATCCGTGATGTGGCCAAGCAAGTGAAGGCCAGGTTGCGGGAGGCAGGCCTGGCACCAGTGCCCATGGTGAGGATTGGGATGGGTTGAGTGAAGGTGGTCCTGTGGAGCTTTCAGGCTAAGTCCTGCATGGACTGGAGTGACCACTGGAGGGCAGCAGAAGTACAGTCAAGAAAGATTAGTGGTTGTAGCAAGGCCCTCTGTAGCCTGAGATCTGCTTTTTTCTAGATCATCTTTGCTAAGGATGGGCATTTTGCCCTGGAGGAGCTGGCCCAAGCTGGCTATGAGGTGGTTGGGCTTGACTGGACAGTGGCCCCAAAGAAAGCCGGGTAAGCCATGGAAGGGTGAGGCCTTGAGGTTGAGGTGGGGGTGTTGGCTGGGGGAGCTGCCATGTATGCAGTTACCAGAACGTGGCGCTGGCTTTGCTTCCAGGGAGTGTGTGGGGAAGACGGTGACATTGCAGGGCAACCTGGACCCCTGTGCCTTGTATGCATCTGAGGTAACAGCCAGGGCCCCTCTGTGTGTCTGTTACTGTGCACTCCTGTGGCTGTGGCTGTATTATTCTGTGTGCACTTGTTTTTAATGTCTGTCTGTCCTTTTCTTCTACTCTGTACAACATAAGCCCTAGAAAGACCGGACTTTTTGTTGCTGTTGTTCATTTGTGTTTATGCTTCATGCCTGGGTCCATACTAGGGATCTGATAAATTTTATTGAATGACTGAATAACACTGAGTAGAAGCATGCCTACATATGCGTTTGTCACTAGTATATATAGGGAGGACAAAGGCTTGCTGGTCCTCCTGTAGCCAGTGCCCTGTTGGTCCCCCAGGAGGAGATCGGGCAGTTGGTGAAGCAGATGCTGGATGACTTTGGACCACATCGCTACATTGCCAACCTGGGCCATGGGCTTTATCCTGACATGGACCCAGAACATGTGGGCGCCTTTGTGGATGCTGTGCATAAACACTCACGTCTGCTTCGACAGAACTGAGTGTATACCTTTACCCTCAAGTACCACTAACACAGATGATTGATCGTTTCCAGGACAATAAAAGTTTCGGAGTTGAACTATTGTGTAGTTTTGTTTGTGAAAGATTGTGCCCATATCCTCAGTTCTTCTTAGCCTCTGCTCCTTCCCTGGGAACCCTCTCTATATCCTCTTCACAAGTCATGGGGGTTAGGTATCAGTGAATATGTACTATAGCACTTAAGGATTCTCATTCCCATCTTACTCTCAGATACCTAAGTCCCAGAACTACATGGGGTAGGGTAGAGCTTTCCTAGCAGTTCAGGTTGTGACATTTGCAGAAAAACGGGTGGGGTCCTCACAACATACAAAGGCCAAATTGATAGGGCTTTATGTCTGGGGAGAAAGGGAAGTATACATCAAAAAGGGGCACAGAAGGGGTTAGAACACTTCAGAGAGGCATGGGGAAGAAGATGGAGTCTAGGCAAGCAGGGAGAAGCTGAGGGACCCTCAGCTTTGACACCAAAATATATAGAGGACATGAAAGCTCAGAGCTAGGTTGCTTAGGATTGGAGCTTTAGACAAGTCGATCATCACCAAAGCAAGAAGTCCTCTGAAACCAAAAGACCCTCTGGCAACTCAAGGTTGCTTTATATTCTTTTCTGAGCATCCCCTTTAATTTTCTCAAGATCTTGGTTATTCCACCCTTCCTGGTGGTACCTGCTTCCCAGGACAAGGCTCTGAGGTGTCTGTAAGCCCTGGGGAAGGGTCTGGTATGGCAAGAAATTCTTTATCTGTCAGTCATTCTGCATCTCCTTAGACCACTAGGCACCCACTGTGCTGTAGGCTGAACCAGCTCCCTGGCCCAGCCAGGGCAATGCAGAAAGGAGAGATGGGTTTCATTTAGTGAGAGAACACAATTTCTGCTTTTAGAAAAATGATCTTTTATGTGATCCATGATTTATTCATAGAAAAGCACTGTGAATTCACACACTTGCTAAAAAAGGGCAACTGTGATACAGAAATGAGAGTGGCTTCTCTCTTTTTTTTAACCAACCCATTGGGCTGAGACGTAGGGGCCCTTGGCTGGACAGTAAGACTTGAGTAGCCACAAATGGCAAATACAACTTCTTGGTCAGTTTGGAGTAAAAAAGGTGACAGTTTGTCGAAGAAAGAAAAAGTAAAGCAGATGGAGAAGTTCTTAGTTCACATTCTAGCTATACCACCCCTTCCCTATCAAACCCCACCCCCAACTCAGGAACTAAGACATGAAACAGTAAACACCAAGACACTGGTTCCAACTGACTTTTCTGAGTGCCCTTGCTACCTCCTATAACAATTCCAGGCTGAGCACAGGGGTCAGGAAGGTAGCAGGAACATGATACACTATGGAGGTCAGCCAGGGCTA
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Task1_train_842
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Consider a variant on Chromosome 1 in gene UROD (uroporphyrinogen decarboxylase). Determine its clinical classification and disease relevance.
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Pathogenic; not provided
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GAAGAATGACACATTCCTGCGAGCAGCCTGGGGAGAGGAAACAGACTACACTCCCGTTTGGTGCATGCGCCAGGCAGGCCGTTACTTACCAGGTAAGAGTCAGGGTCTGGAAATCTAGATAAAACTCCGGAGGGAGAAAAGTTTTCGAGGGGCAGGGGAGGGCTCTGGAGGGCCTCAAGGCTGAGCCCTGTCTTCCCTCTGTATGCAGAGTTTAGGGAAACCCGGGCTGCCCAGGACTTTTTCAGCACGTGTCGCTCTCCTGAGGCCTGCTGTGAACTGACTCTGCAGGTGAGGGGTCCACAAAAGAGGGAAAGATTTATGCCTTCAGTCTGCCACCTAGCAACCTGTCTCCTGTTTCCTACAGCCACTGCGTCGCTTCCCTCTGGATGCTGCCATCATTTTCTCCGACATCCTTGTTGTACCCCAGGTACCCACTCAAACCTGATCCTAGAATATAATCCAAGGACGCCTTGAAAATCCTTCTATCAGTCCAGTCAAGGTTTACAATAAGCACTTATCCTAACTGGATCGAGGGAAAAACTAAGGTTGAAAGAAATGGAGTTTGGCAGAGTTTTATTCTCCTTTTCCTTCCTCCTGGAATGAGCTGAACAGAACCTTTCCTCCTGGATTCCATTTTGGGAACCCAGATGTTTTCTCCCCCTCCAGGCACTGGGCATGGAGGTGACCATGGTACCTGGCAAAGGACCCAGCTTCCCAGAGCCATTAAGAGAAGAGCAGGACCTAGAACGCCTACGGGATCCAGAAGTGGTAGCCTCTGAGCTAGGCTATGTGTTCCAAGCCATCACCCTTACCCGACAACGACTGGCTGGACGTGTGCCGCTGATTGGCTTTGCTGGTGCCCCAGTAATGTGGGACAGGGCAGGGACTCGGGGCGCGGGGAGATCACTCTGGAAGGTCTGGGGTAGACAAAAGGAAGGGTCAGTCTGGCTTCTGTGACACCATCTTTCTATCCTTCTCTAGTGGACCCTGATGACATACATGGTTGAGGGTGGTGGCTCAAGCACCATGGCTCAGGCCAAGCGCTGGCTCTATCAGAGACCTCAGGCTAGTCACCAGCTGCTTCGCATCCTCACTGATGCTCTGGTCCCATATCTGGTAGGACAAGTGGTGGCTGGTGCCCAGGTGAGTCCTGAGAGAGAGAGAAATAGGCTGGGATTTGGTCTGTAAGGACCAGAAGCAAGAGTGTCCTAAACCTGAGAGGGCAGGGGTCTTAATGCCAGGGATGAAAGAACCTTGGCCTCCAGTGATCTAGCGGAGCAGCCAAGCCCATCCTGACACTGACAGTGGGGCTTAATGCTCTAAGTATTCAGACACCAAAGTTAGTGCTGGGATCTGAGGAAAGTAAATTTTTTTTTTTTTAATTACTGGGTTTTTAGGGTCAGGCAGTATCAGGGATTGAAGTCATTTGGGGAAAATTGAGGTGGATTTTGTATGTGGGGGAAACTTCCTCTTTGTGTGTTACATATTTTTCTTCACCATACCCTAACTAGGCATTGCAGCTGTTTGAGTCCCATGCAGGGCATCTTGGCCCACAGCTCTTCAACAAGTTTGCACTGCCTTACATCCGTGATGTGGCCAAGCAAGTGAAGGCCAGGTTGCGGGAGGCAGGCCTGGCACCAGTGCCCATGGTGAGGATTGGGATGGGTTGAGTGAAGGTGGTCCTGTGGAGCTTTCAGGCTAAGTCCTGCATGGACTGGAGTGACCACTGGAGGGCAGCAGAAGTACAGTCAAGAAAGATTAGTGGTTGTAGCAAGGCCCTCTGTAGCCTGAGATCTGCTTTTTTCTAGATCATCTTTGCTAAGGATGGGCATTTTGCCCTGGAGGAGCTGGCCCAAGCTGGCTATGAGGTGGTTGGGCTTGACTGGACAGTGGCCCCAAAGAAAGCCCGGTAAGCCATGGAAGGGTGAGGCCTTGAGGTTGAGGTGGGGGTGTTGGCTGGGGGAGCTGCCATGTATGCAGTTACCAGAACGTGGCGCTGGCTTTGCTTCCAGGGAGTGTGTGGGGAAGACGGTGACATTGCAGGGCAACCTGGACCCCTGTGCCTTGTATGCATCTGAGGTAACAGCCAGGGCCCCTCTGTGTGTCTGTTACTGTGCACTCCTGTGGCTGTGGCTGTATTATTCTGTGTGCACTTGTTTTTAATGTCTGTCTGTCCTTTTCTTCTACTCTGTACAACATAAGCCCTAGAAAGACCGGACTTTTTGTTGCTGTTGTTCATTTGTGTTTATGCTTCATGCCTGGGTCCATACTAGGGATCTGATAAATTTTATTGAATGACTGAATAACACTGAGTAGAAGCATGCCTACATATGCGTTTGTCACTAGTATATATAGGGAGGACAAAGGCTTGCTGGTCCTCCTGTAGCCAGTGCCCTGTTGGTCCCCCAGGAGGAGATCGGGCAGTTGGTGAAGCAGATGCTGGATGACTTTGGACCACATCGCTACATTGCCAACCTGGGCCATGGGCTTTATCCTGACATGGACCCAGAACATGTGGGCGCCTTTGTGGATGCTGTGCATAAACACTCACGTCTGCTTCGACAGAACTGAGTGTATACCTTTACCCTCAAGTACCACTAACACAGATGATTGATCGTTTCCAGGACAATAAAAGTTTCGGAGTTGAACTATTGTGTAGTTTTGTTTGTGAAAGATTGTGCCCATATCCTCAGTTCTTCTTAGCCTCTGCTCCTTCCCTGGGAACCCTCTCTATATCCTCTTCACAAGTCATGGGGGTTAGGTATCAGTGAATATGTACTATAGCACTTAAGGATTCTCATTCCCATCTTACTCTCAGATACCTAAGTCCCAGAACTACATGGGGTAGGGTAGAGCTTTCCTAGCAGTTCAGGTTGTGACATTTGCAGAAAAACGGGTGGGGTCCTCACAACATACAAAGGCCAAATTGATAGGGCTTTATGTCTGGGGAGAAAGGGAAGTATACATCAAAAAGGGGCACAGAAGGGGTTAGAACACTTCAGAGAGGCATGGGGAAGAAGATGGAGTCTAGGCAAGCAGGGAGAAGCTGAGGGACCCTCAGCTTTGACACCAAAATATATAGAGGACATGAAAGCTCAGAGCTAGGTTGCTTAGGATTGGAGCTTTAGACAAGTCGATCATCACCAAAGCAAGAAGTCCTCTGAAACCAAAAGACCCTCTGGCAACTCAAGGTTGCTTTATATTCTTTTCTGAGCATCCCCTTTAATTTTCTCAAGATCTTGGTTATTCCACCCTTCCTGGTGGTACCTGCTTCCCAGGACAAGGCTCTGAGGTGTCTGTAAGCCCTGGGGAAGGGTCTGGTATGGCAAGAAATTCTTTATCTGTCAGTCATTCTGCATCTCCTTAGACCACTAGGCACCCACTGTGCTGTAGGCTGAACCAGCTCCCTGGCCCAGCCAGGGCAATGCAGAAAGGAGAGATGGGTTTCATTTAGTGAGAGAACACAATTTCTGCTTTTAGAAAAATGATCTTTTATGTGATCCATGATTTATTCATAGAAAAGCACTGTGAATTCACACACTTGCTAAAAAAGGGCAACTGTGATACAGAAATGAGAGTGGCTTCTCTCTTTTTTTTAACCAACCCATTGGGCTGAGACGTAGGGGCCCTTGGCTGGACAGTAAGACTTGAGTAGCCACAAATGGCAAATACAACTTCTTGGTCAGTTTGGAGTAAAAAAGGTGACAGTTTGTCGAAGAAAGAAAAAGTAAAGCAGATGGAGAAGTTCTTAGTTCACATTCTAGCTATACCACCCCTTCCCTATCAAACCCCACCCCCAACTCAGGAACTAAGACATGAAACAGTAAACACCAAGACACTGGTTCCAACTGACTTTTCTGAGTGCCCTTGCTACCTCCTATAACAATTCCAGGCTGAGCACAGGGGTCAGGAAGGTAGCAGGAACATGATACACTATGGAGGTCAGCCAGGGCTAAGACAGGACTGCCCACTAGGGCTAGAAATTAGGAAGGGAGAGGCTAAGTGCAGACCAGCCCTAGCCTCCAAGTCAGCGAGCAATGAGACTGTGACAAAAGCCGGCGAGGAAGCTTGAGGTAGAAAGGCAGGGGAAGAAAGC
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GAAGAATGACACATTCCTGCGAGCAGCCTGGGGAGAGGAAACAGACTACACTCCCGTTTGGTGCATGCGCCAGGCAGGCCGTTACTTACCAGGTAAGAGTCAGGGTCTGGAAATCTAGATAAAACTCCGGAGGGAGAAAAGTTTTCGAGGGGCAGGGGAGGGCTCTGGAGGGCCTCAAGGCTGAGCCCTGTCTTCCCTCTGTATGCAGAGTTTAGGGAAACCCGGGCTGCCCAGGACTTTTTCAGCACGTGTCGCTCTCCTGAGGCCTGCTGTGAACTGACTCTGCAGGTGAGGGGTCCACAAAAGAGGGAAAGATTTATGCCTTCAGTCTGCCACCTAGCAACCTGTCTCCTGTTTCCTACAGCCACTGCGTCGCTTCCCTCTGGATGCTGCCATCATTTTCTCCGACATCCTTGTTGTACCCCAGGTACCCACTCAAACCTGATCCTAGAATATAATCCAAGGACGCCTTGAAAATCCTTCTATCAGTCCAGTCAAGGTTTACAATAAGCACTTATCCTAACTGGATCGAGGGAAAAACTAAGGTTGAAAGAAATGGAGTTTGGCAGAGTTTTATTCTCCTTTTCCTTCCTCCTGGAATGAGCTGAACAGAACCTTTCCTCCTGGATTCCATTTTGGGAACCCAGATGTTTTCTCCCCCTCCAGGCACTGGGCATGGAGGTGACCATGGTACCTGGCAAAGGACCCAGCTTCCCAGAGCCATTAAGAGAAGAGCAGGACCTAGAACGCCTACGGGATCCAGAAGTGGTAGCCTCTGAGCTAGGCTATGTGTTCCAAGCCATCACCCTTACCCGACAACGACTGGCTGGACGTGTGCCGCTGATTGGCTTTGCTGGTGCCCCAGTAATGTGGGACAGGGCAGGGACTCGGGGCGCGGGGAGATCACTCTGGAAGGTCTGGGGTAGACAAAAGGAAGGGTCAGTCTGGCTTCTGTGACACCATCTTTCTATCCTTCTCTAGTGGACCCTGATGACATACATGGTTGAGGGTGGTGGCTCAAGCACCATGGCTCAGGCCAAGCGCTGGCTCTATCAGAGACCTCAGGCTAGTCACCAGCTGCTTCGCATCCTCACTGATGCTCTGGTCCCATATCTGGTAGGACAAGTGGTGGCTGGTGCCCAGGTGAGTCCTGAGAGAGAGAGAAATAGGCTGGGATTTGGTCTGTAAGGACCAGAAGCAAGAGTGTCCTAAACCTGAGAGGGCAGGGGTCTTAATGCCAGGGATGAAAGAACCTTGGCCTCCAGTGATCTAGCGGAGCAGCCAAGCCCATCCTGACACTGACAGTGGGGCTTAATGCTCTAAGTATTCAGACACCAAAGTTAGTGCTGGGATCTGAGGAAAGTAAATTTTTTTTTTTTTAATTACTGGGTTTTTAGGGTCAGGCAGTATCAGGGATTGAAGTCATTTGGGGAAAATTGAGGTGGATTTTGTATGTGGGGGAAACTTCCTCTTTGTGTGTTACATATTTTTCTTCACCATACCCTAACTAGGCATTGCAGCTGTTTGAGTCCCATGCAGGGCATCTTGGCCCACAGCTCTTCAACAAGTTTGCACTGCCTTACATCCGTGATGTGGCCAAGCAAGTGAAGGCCAGGTTGCGGGAGGCAGGCCTGGCACCAGTGCCCATGGTGAGGATTGGGATGGGTTGAGTGAAGGTGGTCCTGTGGAGCTTTCAGGCTAAGTCCTGCATGGACTGGAGTGACCACTGGAGGGCAGCAGAAGTACAGTCAAGAAAGATTAGTGGTTGTAGCAAGGCCCTCTGTAGCCTGAGATCTGCTTTTTTCTAGATCATCTTTGCTAAGGATGGGCATTTTGCCCTGGAGGAGCTGGCCCAAGCTGGCTATGAGGTGGTTGGGCTTGACTGGACAGTGGCCCCAAAGAAAGCCCGGTAAGCCATGGAAGGGTGAGGCCTTGAGGTTGAGGTGGGGGTGTTGGCTGGGGGAGCTGCCATGTATGCAGTTACCAGAACGTGGCGCTGGCTTTGCTTCCAGGGAGTGTGTGGGGAAGACGGTGACATTGCAGGGCAAACTGGACCCCTGTGCCTTGTATGCATCTGAGGTAACAGCCAGGGCCCCTCTGTGTGTCTGTTACTGTGCACTCCTGTGGCTGTGGCTGTATTATTCTGTGTGCACTTGTTTTTAATGTCTGTCTGTCCTTTTCTTCTACTCTGTACAACATAAGCCCTAGAAAGACCGGACTTTTTGTTGCTGTTGTTCATTTGTGTTTATGCTTCATGCCTGGGTCCATACTAGGGATCTGATAAATTTTATTGAATGACTGAATAACACTGAGTAGAAGCATGCCTACATATGCGTTTGTCACTAGTATATATAGGGAGGACAAAGGCTTGCTGGTCCTCCTGTAGCCAGTGCCCTGTTGGTCCCCCAGGAGGAGATCGGGCAGTTGGTGAAGCAGATGCTGGATGACTTTGGACCACATCGCTACATTGCCAACCTGGGCCATGGGCTTTATCCTGACATGGACCCAGAACATGTGGGCGCCTTTGTGGATGCTGTGCATAAACACTCACGTCTGCTTCGACAGAACTGAGTGTATACCTTTACCCTCAAGTACCACTAACACAGATGATTGATCGTTTCCAGGACAATAAAAGTTTCGGAGTTGAACTATTGTGTAGTTTTGTTTGTGAAAGATTGTGCCCATATCCTCAGTTCTTCTTAGCCTCTGCTCCTTCCCTGGGAACCCTCTCTATATCCTCTTCACAAGTCATGGGGGTTAGGTATCAGTGAATATGTACTATAGCACTTAAGGATTCTCATTCCCATCTTACTCTCAGATACCTAAGTCCCAGAACTACATGGGGTAGGGTAGAGCTTTCCTAGCAGTTCAGGTTGTGACATTTGCAGAAAAACGGGTGGGGTCCTCACAACATACAAAGGCCAAATTGATAGGGCTTTATGTCTGGGGAGAAAGGGAAGTATACATCAAAAAGGGGCACAGAAGGGGTTAGAACACTTCAGAGAGGCATGGGGAAGAAGATGGAGTCTAGGCAAGCAGGGAGAAGCTGAGGGACCCTCAGCTTTGACACCAAAATATATAGAGGACATGAAAGCTCAGAGCTAGGTTGCTTAGGATTGGAGCTTTAGACAAGTCGATCATCACCAAAGCAAGAAGTCCTCTGAAACCAAAAGACCCTCTGGCAACTCAAGGTTGCTTTATATTCTTTTCTGAGCATCCCCTTTAATTTTCTCAAGATCTTGGTTATTCCACCCTTCCTGGTGGTACCTGCTTCCCAGGACAAGGCTCTGAGGTGTCTGTAAGCCCTGGGGAAGGGTCTGGTATGGCAAGAAATTCTTTATCTGTCAGTCATTCTGCATCTCCTTAGACCACTAGGCACCCACTGTGCTGTAGGCTGAACCAGCTCCCTGGCCCAGCCAGGGCAATGCAGAAAGGAGAGATGGGTTTCATTTAGTGAGAGAACACAATTTCTGCTTTTAGAAAAATGATCTTTTATGTGATCCATGATTTATTCATAGAAAAGCACTGTGAATTCACACACTTGCTAAAAAAGGGCAACTGTGATACAGAAATGAGAGTGGCTTCTCTCTTTTTTTTAACCAACCCATTGGGCTGAGACGTAGGGGCCCTTGGCTGGACAGTAAGACTTGAGTAGCCACAAATGGCAAATACAACTTCTTGGTCAGTTTGGAGTAAAAAAGGTGACAGTTTGTCGAAGAAAGAAAAAGTAAAGCAGATGGAGAAGTTCTTAGTTCACATTCTAGCTATACCACCCCTTCCCTATCAAACCCCACCCCCAACTCAGGAACTAAGACATGAAACAGTAAACACCAAGACACTGGTTCCAACTGACTTTTCTGAGTGCCCTTGCTACCTCCTATAACAATTCCAGGCTGAGCACAGGGGTCAGGAAGGTAGCAGGAACATGATACACTATGGAGGTCAGCCAGGGCTAAGACAGGACTGCCCACTAGGGCTAGAAATTAGGAAGGGAGAGGCTAAGTGCAGACCAGCCCTAGCCTCCAAGTCAGCGAGCAATGAGACTGTGACAAAAGCCGGCGAGGAAGCTTGAGGTAGAAAGGCAGGGGAAGAAAGC
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Task1_train_843
|
A variant on Chromosome 1 in gene HPDL, LOC129930439 (4-hydroxyphenylpyruvate dioxygenase like| ATAC-STARR-seq lymphoblastoid active region 964) has been observed. Is this a neutral mutation, or does it result in a disease? If so, which one?
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Pathogenic; Inborn genetic diseases
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TGGGTTCAAGTGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGATTACATCTAATTTTTTGTATTTTTAGTAGAGATGGGGTTTCACCATGTTGGCCAGGGTGGTCTTGAACTCCTGACCTCAGGTGATCCGCCTGCCTCAGCCTCCCAAAGTGCTGAGATTACAGGTGTGAGCCACTGTGCCCAGCTCTGAAAAACTTTTTAAAATAAATAAATATTAGAATATGTGGGAAAATAAAATTAATTAAAAAAAAAAACAGTAACTACAATAGCAACAGCTACTATTTACTGAACACTTACTCCACCTCACTTAATCACAACTCTTTGAAGTAGGTACTATTATTTCCATTTTTACAGATGGGCAAATTAAGGCTCAGAGGCGTTAAGCAACTTGCCCATACAGACAGTAAGTGTTGCTGGTGATTCAAACCCAGGTCCGTCTGGCTTTTGGAACTCATGTCCTCACATTCACTGGTCTGCAGAGTAGCACCAAGTACCTTTTACCACCCTGACCAGCTCCTGGGTACTGCCCTCCTGCCTGCAGGCCTGAACACCATGACATCCAGCTAGCCCCTGTCCCCTATGACATCCTTCTCCCTCTTGCCAATGAAACCCAGTAGATCAGGCTGCCTGACAAAAAAATTTCTTGTGATGCCTTGGACTGTGGCATTCATCCTAAATGCCTCCCTAACAGCATGGCCCATTGCTCCTCTAAGAGTCTGGCTCACACTCTTACTGAGTTTTTGCTTATGCCCTTTGCCCTTCTTGGATGCCCTTCCCTAACCCTTCAAGGGCCACTCAGTTGAAGTTCCAGAAGACTACAAATTCCTCAATCCAGTCATCTCACACAATTCTGGGTTTCAGAGCCAGAAGTGCCCCCACCACAGAAATCTCTGGCTCAATGCCAAGTCAGGAAGCTGCAAAGAGCAAGGAGGGCCTGTGTTCCAGTCCTCAAAGGATGGGGAAGGGGAATGACAGCCAGGCAGCTGTTCCTTTCAGATCCCGAACCGTCAGATTTTTCCTCCAAATCTTGCTTGGGACAAGGGGTTAAATGATGTTGACAGAAGGGTGATTGAAGAAAGAGACAGGACTGGTTGAGAGATTGCCCAACACTTTGGGAGGCTGAGGTGGAAAGATGGCTTGAGCCCAGGGGTTTAAAACCAGCTTGGGCAATATAGCAAGACCCCATTTCTAAAAAAAAAAATTATTTTTAATTAGCTGGGTGTGGTGGCGTCCGCCTGTGGTCCCAGCTATTTGTGCACTGAGGCAAGGAAAATCGCCTGAACCCAGGAGGTGGAGGCTGCAGTGAGCTGTGATTGTGCCACTCCAGCCTGGGTGACAGAGTGAGACCCTGTCTCAAAACATATAAACGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTATTCCAGGGAACATTAAGACTTAGAGGCAAACTCCAGAACTTAAAGAAAAAACATGAAAGTGCTAAAAAATTCCGTGCTTGTGGAGAGAGAATTCCAACTCTTTCCCTGAACCCGGGCTGAGTCCCTTCGCTGTGAGGTTGGGGGGATGAGTGGGAGCCCAGTGCCTGGCGCCGAGTGAAGGCAGCCATTGTGAGTTCCTGGGCTGGGGAAGGGAGGCTCAGTGCCCAAGGATGTGACCAGGCGTGAGGCCCGGGGAAAGAGCAGCGCGGCGACCCCGCAGTATCCGAGGCGACAGGGTGTGGGGGAGGGGGTGGGGAGTCAAAGGCGGAGTCACGGGCTCCGCCCTCTTTCTCCTGCTTGGCGCGAGCACAGGCACCGCGTGGTTCTCACAACCAGCAGCTCGGCTCACTGAGACCCGGTGGTCCAGACGCTGCTCCTGGCTGGGGTGGCGCTGCAGGGAGAACCGCGAGCTCTCAGGGGTCGGCGGGTGACTTCTTTCCGGAAGAAAGCGAGGAACGCGCTCTGCGGGGTGAGCCGGACTCCCCAACTCCGGACGATCAGCCCAGGACTGAGAGCCCCGAAGTCCCCAACCACAAGTAAGCGGCCCCAGAAGGACAAGTCTAGGTCGCCGTCCAGAGCGCCATGGCCGCGCCCGCCCTTCGTTTGTGCCACATCGCCTTCCACGTGCCCGCCGGGCAGCCCCTAGCCCGGAACCTGCAGCGCCTCTTCGGCTTCCAGCCCCTGGCTTCGCGGGAGGTGGACGGCTGGCGGCAGCTAGCCCTGCGCAGCGGCGACGCGGTCTTTTTGGTGAACGAGGGCGCAGGGTCTGGAGAGCCGCTGTACGGCCTGGATCCGCGTCACGCCGTGCCCAGCGCCACAAACCTGTGCTTCGACGTGGCGGACGCCGGCGCTGCAACCCGGGAGCTGGCAGCGCTGGGCTGCAGCGTGCCTGTCCCTCCCGTTCGCGTGCGGGACGCGCAGGGTGCCGCCACTTACGCCGTGGTCAGCTCGCCTGCCGGCATCCTCAGCCTGACCTTGCTGGAGCGCGCTGGCTACCGCGGACCCTTCCTACCCGGCTTCAGGCCCGTGTCCTCTGCGCCTGGCCCCGGGTGGGTCAGCCGCGTGGACCACCTGACCTTGGCCTGCACCCCCGGCAGCTCCCCCACACTTTTGCGCTGGTTCCACGACTGCCTGGGCTTTTGCCACTTGCCGCTGAGCCCAGGTGAGGATCCCGAGCTGGGCCTCGAAATGACAGCAGGGTTTGGGCTTGGGGGACTGAGGCTTACAGCCCTGCAGGCCCAGCCGGGCAGCATTGTCCCCACTCTTGTTCTGGCTGAGTCCCTTCCGGGGGCGACGACACGACAGGACCAGGTGGAGCAGTTCCTGGCCCGGCACAAGGGGCCAGGCCTGCAGCACGTGGGGCTGTATACGCCTAACATTGTGGAGGCCACTGAGGGGGTGGCAACTGCTGGAGGCCAGTTCCTGGCTCCCCCTGGGGCATACTACCAGCAGCCAGGAAAGGAGAGGCAGATCCGAGCTGCAGGGCACGAGCCTCATCTGCTTGCTCGACAGGGGATCCTGCTAGATGGTGATAAAGGCAAGTTTCTGCTTCAGGTCTTCACCAAGTCCCTTTTTACTGAGGACACTTTCTTCCTGGAGCTGATTCAGAGGCAGGGGGCCACTGGCTTTGGTCAGGGCAACATCAGAGCTCTGTGGCAGTCCGTACAGGAGCAATCTGCCAGGAGCCAGGAAGCCTAAGGATGCCCAGGGCTGGGTGCAGCCAGCTGTCCTGCAGCTCTGGGGAGACCAGCACAGAACTGAGGAACATCTGCAGGAGGCCCAACTAGTGAAAGGCTTTGCCTCCGGGGGGCAGGTGTGACTTCCATTTCATCAGTGCCTGCCAGAAGCTGTGTCTCTCATTGGGCTCCAAAGAGGTGGGATTTTTTAAAACTAAAACATTTCTTATATACAGTCTATAATAAATATGTAAGATACAAAGAACAATAAAAGAATTACACACTAGGAAATAGAACATAACCAATACTTTCGAGTCCTCCCTGTGTCCCGCTGTGATTCTATTTCCTCCCACCCACTCCTCAAATCCTGTCATTATTAGCCCTTTGCTTTTCTGTATTGTTTCACTCCGTATGTAACATAACCCTAAATAAATTATTTCGTATTTGAGGTAGGAATTTAAAACAGAACAAATCTTCTCCTGTGCTTCCTCTCCCCCTAGGGAGCGACCACTCAGGTGGGGAGGGGCTGGGTGAGAGTTGAGCCCAACTACCTACTCCAGAGTGATGCCACCACTCCAATTAGAGCTGACCTGAGACGTAAACAGAGGGTGTTGTGTGTCAGCCACTGGCAGGTTCTCCCTGTAGCTGCCTTGCCTTTCTCCTGGGGGTTGGAGGGCAGATCAGTCTGGACAGAACACCCCCACTCCAACCCCATCTGCCCGGGGCTGGCTGGGAGTTCAGCCAGAGAAAGTCAGAACCAAGCAGAACGTCACCACTTTTCTGGGTCCCTCCCTCAGATATAAGGGGTGAGGGGGCTAGGGAGAGGGTGGAAGGCTGTCCAAAATAGCTACAAAAGGGCGGGCGTGGTGGCTCATGCCTGTAATCCAAGCACTTTAGGAGGCTGAAGTGGGAGAATCACTTGAGGCCAGAATCACCTGAGTTCGAAACCAGTCTGA
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TGGGTTCAAGTGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGATTACATCTAATTTTTTGTATTTTTAGTAGAGATGGGGTTTCACCATGTTGGCCAGGGTGGTCTTGAACTCCTGACCTCAGGTGATCCGCCTGCCTCAGCCTCCCAAAGTGCTGAGATTACAGGTGTGAGCCACTGTGCCCAGCTCTGAAAAACTTTTTAAAATAAATAAATATTAGAATATGTGGGAAAATAAAATTAATTAAAAAAAAAAACAGTAACTACAATAGCAACAGCTACTATTTACTGAACACTTACTCCACCTCACTTAATCACAACTCTTTGAAGTAGGTACTATTATTTCCATTTTTACAGATGGGCAAATTAAGGCTCAGAGGCGTTAAGCAACTTGCCCATACAGACAGTAAGTGTTGCTGGTGATTCAAACCCAGGTCCGTCTGGCTTTTGGAACTCATGTCCTCACATTCACTGGTCTGCAGAGTAGCACCAAGTACCTTTTACCACCCTGACCAGCTCCTGGGTACTGCCCTCCTGCCTGCAGGCCTGAACACCATGACATCCAGCTAGCCCCTGTCCCCTATGACATCCTTCTCCCTCTTGCCAATGAAACCCAGTAGATCAGGCTGCCTGACAAAAAAATTTCTTGTGATGCCTTGGACTGTGGCATTCATCCTAAATGCCTCCCTAACAGCATGGCCCATTGCTCCTCTAAGAGTCTGGCTCACACTCTTACTGAGTTTTTGCTTATGCCCTTTGCCCTTCTTGGATGCCCTTCCCTAACCCTTCAAGGGCCACTCAGTTGAAGTTCCAGAAGACTACAAATTCCTCAATCCAGTCATCTCACACAATTCTGGGTTTCAGAGCCAGAAGTGCCCCCACCACAGAAATCTCTGGCTCAATGCCAAGTCAGGAAGCTGCAAAGAGCAAGGAGGGCCTGTGTTCCAGTCCTCAAAGGATGGGGAAGGGGAATGACAGCCAGGCAGCTGTTCCTTTCAGATCCCGAACCGTCAGATTTTTCCTCCAAATCTTGCTTGGGACAAGGGGTTAAATGATGTTGACAGAAGGGTGATTGAAGAAAGAGACAGGACTGGTTGAGAGATTGCCCAACACTTTGGGAGGCTGAGGTGGAAAGATGGCTTGAGCCCAGGGGTTTAAAACCAGCTTGGGCAATATAGCAAGACCCCATTTCTAAAAAAAAAAATTATTTTTAATTAGCTGGGTGTGGTGGCGTCCGCCTGTGGTCCCAGCTATTTGTGCACTGAGGCAAGGAAAATCGCCTGAACCCAGGAGGTGGAGGCTGCAGTGAGCTGTGATTGTGCCACTCCAGCCTGGGTGACAGAGTGAGACCCTGTCTCAAAACATATAAACGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTATTCCAGGGAACATTAAGACTTAGAGGCAAACTCCAGAACTTAAAGAAAAAACATGAAAGTGCTAAAAAATTCCGTGCTTGTGGAGAGAGAATTCCAACTCTTTCCCTGAACCCGGGCTGAGTCCCTTCGCTGTGAGGTTGGGGGGATGAGTGGGAGCCCAGTGCCTGGCGCCGAGTGAAGGCAGCCATTGTGAGTTCCTGGGCTGGGGAAGGGAGGCTCAGTGCCCAAGGATGTGACCAGGCGTGAGGCCCGGGGAAAGAGCAGCGCGGCGACCCCGCAGTATCCGAGGCGACAGGGTGTGGGGGAGGGGGTGGGGAGTCAAAGGCGGAGTCACGGGCTCCGCCCTCTTTCTCCTGCTTGGCGCGAGCACAGGCACCGCGTGGTTCTCACAACCAGCAGCTCGGCTCACTGAGACCCGGTGGTCCAGACGCTGCTCCTGGCTGGGGTGGCGCTGCAGGGAGAACCGCGAGCTCTCAGGGGTCGGCGGGTGACTTCTTTCCGGAAGAAAGCGAGGAACGCGCTCTGCGGGGTGAGCCGGACTCCCCAACTCCGGACGATCAGCCCAGGACTGAGAGCCCCGAAGTCCCCAACCACAAGTAAGCGGCCCCAGAAGGACAAGTCTAGGTCGCCGTCCAGAGCGCCATCGCCGCGCCCGCCCTTCGTTTGTGCCACATCGCCTTCCACGTGCCCGCCGGGCAGCCCCTAGCCCGGAACCTGCAGCGCCTCTTCGGCTTCCAGCCCCTGGCTTCGCGGGAGGTGGACGGCTGGCGGCAGCTAGCCCTGCGCAGCGGCGACGCGGTCTTTTTGGTGAACGAGGGCGCAGGGTCTGGAGAGCCGCTGTACGGCCTGGATCCGCGTCACGCCGTGCCCAGCGCCACAAACCTGTGCTTCGACGTGGCGGACGCCGGCGCTGCAACCCGGGAGCTGGCAGCGCTGGGCTGCAGCGTGCCTGTCCCTCCCGTTCGCGTGCGGGACGCGCAGGGTGCCGCCACTTACGCCGTGGTCAGCTCGCCTGCCGGCATCCTCAGCCTGACCTTGCTGGAGCGCGCTGGCTACCGCGGACCCTTCCTACCCGGCTTCAGGCCCGTGTCCTCTGCGCCTGGCCCCGGGTGGGTCAGCCGCGTGGACCACCTGACCTTGGCCTGCACCCCCGGCAGCTCCCCCACACTTTTGCGCTGGTTCCACGACTGCCTGGGCTTTTGCCACTTGCCGCTGAGCCCAGGTGAGGATCCCGAGCTGGGCCTCGAAATGACAGCAGGGTTTGGGCTTGGGGGACTGAGGCTTACAGCCCTGCAGGCCCAGCCGGGCAGCATTGTCCCCACTCTTGTTCTGGCTGAGTCCCTTCCGGGGGCGACGACACGACAGGACCAGGTGGAGCAGTTCCTGGCCCGGCACAAGGGGCCAGGCCTGCAGCACGTGGGGCTGTATACGCCTAACATTGTGGAGGCCACTGAGGGGGTGGCAACTGCTGGAGGCCAGTTCCTGGCTCCCCCTGGGGCATACTACCAGCAGCCAGGAAAGGAGAGGCAGATCCGAGCTGCAGGGCACGAGCCTCATCTGCTTGCTCGACAGGGGATCCTGCTAGATGGTGATAAAGGCAAGTTTCTGCTTCAGGTCTTCACCAAGTCCCTTTTTACTGAGGACACTTTCTTCCTGGAGCTGATTCAGAGGCAGGGGGCCACTGGCTTTGGTCAGGGCAACATCAGAGCTCTGTGGCAGTCCGTACAGGAGCAATCTGCCAGGAGCCAGGAAGCCTAAGGATGCCCAGGGCTGGGTGCAGCCAGCTGTCCTGCAGCTCTGGGGAGACCAGCACAGAACTGAGGAACATCTGCAGGAGGCCCAACTAGTGAAAGGCTTTGCCTCCGGGGGGCAGGTGTGACTTCCATTTCATCAGTGCCTGCCAGAAGCTGTGTCTCTCATTGGGCTCCAAAGAGGTGGGATTTTTTAAAACTAAAACATTTCTTATATACAGTCTATAATAAATATGTAAGATACAAAGAACAATAAAAGAATTACACACTAGGAAATAGAACATAACCAATACTTTCGAGTCCTCCCTGTGTCCCGCTGTGATTCTATTTCCTCCCACCCACTCCTCAAATCCTGTCATTATTAGCCCTTTGCTTTTCTGTATTGTTTCACTCCGTATGTAACATAACCCTAAATAAATTATTTCGTATTTGAGGTAGGAATTTAAAACAGAACAAATCTTCTCCTGTGCTTCCTCTCCCCCTAGGGAGCGACCACTCAGGTGGGGAGGGGCTGGGTGAGAGTTGAGCCCAACTACCTACTCCAGAGTGATGCCACCACTCCAATTAGAGCTGACCTGAGACGTAAACAGAGGGTGTTGTGTGTCAGCCACTGGCAGGTTCTCCCTGTAGCTGCCTTGCCTTTCTCCTGGGGGTTGGAGGGCAGATCAGTCTGGACAGAACACCCCCACTCCAACCCCATCTGCCCGGGGCTGGCTGGGAGTTCAGCCAGAGAAAGTCAGAACCAAGCAGAACGTCACCACTTTTCTGGGTCCCTCCCTCAGATATAAGGGGTGAGGGGGCTAGGGAGAGGGTGGAAGGCTGTCCAAAATAGCTACAAAAGGGCGGGCGTGGTGGCTCATGCCTGTAATCCAAGCACTTTAGGAGGCTGAAGTGGGAGAATCACTTGAGGCCAGAATCACCTGAGTTCGAAACCAGTCTGA
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Task1_train_844
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Located on Chromosome 1, this mutation impacts HPDL, LOC129930439 (4-hydroxyphenylpyruvate dioxygenase like| ATAC-STARR-seq lymphoblastoid active region 964). What is its biological consequence — is it benign or pathogenic, and which disease is associated if any?
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Pathogenic; Neurodevelopmental disorder with progressive spasticity and brain white matter abnormalities
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TGGGTTCAAGTGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGATTACATCTAATTTTTTGTATTTTTAGTAGAGATGGGGTTTCACCATGTTGGCCAGGGTGGTCTTGAACTCCTGACCTCAGGTGATCCGCCTGCCTCAGCCTCCCAAAGTGCTGAGATTACAGGTGTGAGCCACTGTGCCCAGCTCTGAAAAACTTTTTAAAATAAATAAATATTAGAATATGTGGGAAAATAAAATTAATTAAAAAAAAAAACAGTAACTACAATAGCAACAGCTACTATTTACTGAACACTTACTCCACCTCACTTAATCACAACTCTTTGAAGTAGGTACTATTATTTCCATTTTTACAGATGGGCAAATTAAGGCTCAGAGGCGTTAAGCAACTTGCCCATACAGACAGTAAGTGTTGCTGGTGATTCAAACCCAGGTCCGTCTGGCTTTTGGAACTCATGTCCTCACATTCACTGGTCTGCAGAGTAGCACCAAGTACCTTTTACCACCCTGACCAGCTCCTGGGTACTGCCCTCCTGCCTGCAGGCCTGAACACCATGACATCCAGCTAGCCCCTGTCCCCTATGACATCCTTCTCCCTCTTGCCAATGAAACCCAGTAGATCAGGCTGCCTGACAAAAAAATTTCTTGTGATGCCTTGGACTGTGGCATTCATCCTAAATGCCTCCCTAACAGCATGGCCCATTGCTCCTCTAAGAGTCTGGCTCACACTCTTACTGAGTTTTTGCTTATGCCCTTTGCCCTTCTTGGATGCCCTTCCCTAACCCTTCAAGGGCCACTCAGTTGAAGTTCCAGAAGACTACAAATTCCTCAATCCAGTCATCTCACACAATTCTGGGTTTCAGAGCCAGAAGTGCCCCCACCACAGAAATCTCTGGCTCAATGCCAAGTCAGGAAGCTGCAAAGAGCAAGGAGGGCCTGTGTTCCAGTCCTCAAAGGATGGGGAAGGGGAATGACAGCCAGGCAGCTGTTCCTTTCAGATCCCGAACCGTCAGATTTTTCCTCCAAATCTTGCTTGGGACAAGGGGTTAAATGATGTTGACAGAAGGGTGATTGAAGAAAGAGACAGGACTGGTTGAGAGATTGCCCAACACTTTGGGAGGCTGAGGTGGAAAGATGGCTTGAGCCCAGGGGTTTAAAACCAGCTTGGGCAATATAGCAAGACCCCATTTCTAAAAAAAAAAATTATTTTTAATTAGCTGGGTGTGGTGGCGTCCGCCTGTGGTCCCAGCTATTTGTGCACTGAGGCAAGGAAAATCGCCTGAACCCAGGAGGTGGAGGCTGCAGTGAGCTGTGATTGTGCCACTCCAGCCTGGGTGACAGAGTGAGACCCTGTCTCAAAACATATAAACGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTATTCCAGGGAACATTAAGACTTAGAGGCAAACTCCAGAACTTAAAGAAAAAACATGAAAGTGCTAAAAAATTCCGTGCTTGTGGAGAGAGAATTCCAACTCTTTCCCTGAACCCGGGCTGAGTCCCTTCGCTGTGAGGTTGGGGGGATGAGTGGGAGCCCAGTGCCTGGCGCCGAGTGAAGGCAGCCATTGTGAGTTCCTGGGCTGGGGAAGGGAGGCTCAGTGCCCAAGGATGTGACCAGGCGTGAGGCCCGGGGAAAGAGCAGCGCGGCGACCCCGCAGTATCCGAGGCGACAGGGTGTGGGGGAGGGGGTGGGGAGTCAAAGGCGGAGTCACGGGCTCCGCCCTCTTTCTCCTGCTTGGCGCGAGCACAGGCACCGCGTGGTTCTCACAACCAGCAGCTCGGCTCACTGAGACCCGGTGGTCCAGACGCTGCTCCTGGCTGGGGTGGCGCTGCAGGGAGAACCGCGAGCTCTCAGGGGTCGGCGGGTGACTTCTTTCCGGAAGAAAGCGAGGAACGCGCTCTGCGGGGTGAGCCGGACTCCCCAACTCCGGACGATCAGCCCAGGACTGAGAGCCCCGAAGTCCCCAACCACAAGTAAGCGGCCCCAGAAGGACAAGTCTAGGTCGCCGTCCAGAGCGCCATGGCCGCGCCCGCCCTTCGTTTGTGCCACATCGCCTTCCACGTGCCCGCCGGGCAGCCCCTAGCCCGGAACCTGCAGCGCCTCTTCGGCTTCCAGCCCCTGGCTTCGCGGGAGGTGGACGGCTGGCGGCAGCTAGCCCTGCGCAGCGGCGACGCGGTCTTTTTGGTGAACGAGGGCGCAGGGTCTGGAGAGCCGCTGTACGGCCTGGATCCGCGTCACGCCGTGCCCAGCGCCACAAACCTGTGCTTCGACGTGGCGGACGCCGGCGCTGCAACCCGGGAGCTGGCAGCGCTGGGCTGCAGCGTGCCTGTCCCTCCCGTTCGCGTGCGGGACGCGCAGGGTGCCGCCACTTACGCCGTGGTCAGCTCGCCTGCCGGCATCCTCAGCCTGACCTTGCTGGAGCGCGCTGGCTACCGCGGACCCTTCCTACCCGGCTTCAGGCCCGTGTCCTCTGCGCCTGGCCCCGGGTGGGTCAGCCGCGTGGACCACCTGACCTTGGCCTGCACCCCCGGCAGCTCCCCCACACTTTTGCGCTGGTTCCACGACTGCCTGGGCTTTTGCCACTTGCCGCTGAGCCCAGGTGAGGATCCCGAGCTGGGCCTCGAAATGACAGCAGGGTTTGGGCTTGGGGGACTGAGGCTTACAGCCCTGCAGGCCCAGCCGGGCAGCATTGTCCCCACTCTTGTTCTGGCTGAGTCCCTTCCGGGGGCGACGACACGACAGGACCAGGTGGAGCAGTTCCTGGCCCGGCACAAGGGGCCAGGCCTGCAGCACGTGGGGCTGTATACGCCTAACATTGTGGAGGCCACTGAGGGGGTGGCAACTGCTGGAGGCCAGTTCCTGGCTCCCCCTGGGGCATACTACCAGCAGCCAGGAAAGGAGAGGCAGATCCGAGCTGCAGGGCACGAGCCTCATCTGCTTGCTCGACAGGGGATCCTGCTAGATGGTGATAAAGGCAAGTTTCTGCTTCAGGTCTTCACCAAGTCCCTTTTTACTGAGGACACTTTCTTCCTGGAGCTGATTCAGAGGCAGGGGGCCACTGGCTTTGGTCAGGGCAACATCAGAGCTCTGTGGCAGTCCGTACAGGAGCAATCTGCCAGGAGCCAGGAAGCCTAAGGATGCCCAGGGCTGGGTGCAGCCAGCTGTCCTGCAGCTCTGGGGAGACCAGCACAGAACTGAGGAACATCTGCAGGAGGCCCAACTAGTGAAAGGCTTTGCCTCCGGGGGGCAGGTGTGACTTCCATTTCATCAGTGCCTGCCAGAAGCTGTGTCTCTCATTGGGCTCCAAAGAGGTGGGATTTTTTAAAACTAAAACATTTCTTATATACAGTCTATAATAAATATGTAAGATACAAAGAACAATAAAAGAATTACACACTAGGAAATAGAACATAACCAATACTTTCGAGTCCTCCCTGTGTCCCGCTGTGATTCTATTTCCTCCCACCCACTCCTCAAATCCTGTCATTATTAGCCCTTTGCTTTTCTGTATTGTTTCACTCCGTATGTAACATAACCCTAAATAAATTATTTCGTATTTGAGGTAGGAATTTAAAACAGAACAAATCTTCTCCTGTGCTTCCTCTCCCCCTAGGGAGCGACCACTCAGGTGGGGAGGGGCTGGGTGAGAGTTGAGCCCAACTACCTACTCCAGAGTGATGCCACCACTCCAATTAGAGCTGACCTGAGACGTAAACAGAGGGTGTTGTGTGTCAGCCACTGGCAGGTTCTCCCTGTAGCTGCCTTGCCTTTCTCCTGGGGGTTGGAGGGCAGATCAGTCTGGACAGAACACCCCCACTCCAACCCCATCTGCCCGGGGCTGGCTGGGAGTTCAGCCAGAGAAAGTCAGAACCAAGCAGAACGTCACCACTTTTCTGGGTCCCTCCCTCAGATATAAGGGGTGAGGGGGCTAGGGAGAGGGTGGAAGGCTGTCCAAAATAGCTACAAAAGGGCGGGCGTGGTGGCTCATGCCTGTAATCCAAGCACTTTAGGAGGCTGAAGTGGGAGAATCACTTGAGGCCAGAATCACCTGAGTTCGAAACCAGTCTGA
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TGGGTTCAAGTGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGATTACATCTAATTTTTTGTATTTTTAGTAGAGATGGGGTTTCACCATGTTGGCCAGGGTGGTCTTGAACTCCTGACCTCAGGTGATCCGCCTGCCTCAGCCTCCCAAAGTGCTGAGATTACAGGTGTGAGCCACTGTGCCCAGCTCTGAAAAACTTTTTAAAATAAATAAATATTAGAATATGTGGGAAAATAAAATTAATTAAAAAAAAAAACAGTAACTACAATAGCAACAGCTACTATTTACTGAACACTTACTCCACCTCACTTAATCACAACTCTTTGAAGTAGGTACTATTATTTCCATTTTTACAGATGGGCAAATTAAGGCTCAGAGGCGTTAAGCAACTTGCCCATACAGACAGTAAGTGTTGCTGGTGATTCAAACCCAGGTCCGTCTGGCTTTTGGAACTCATGTCCTCACATTCACTGGTCTGCAGAGTAGCACCAAGTACCTTTTACCACCCTGACCAGCTCCTGGGTACTGCCCTCCTGCCTGCAGGCCTGAACACCATGACATCCAGCTAGCCCCTGTCCCCTATGACATCCTTCTCCCTCTTGCCAATGAAACCCAGTAGATCAGGCTGCCTGACAAAAAAATTTCTTGTGATGCCTTGGACTGTGGCATTCATCCTAAATGCCTCCCTAACAGCATGGCCCATTGCTCCTCTAAGAGTCTGGCTCACACTCTTACTGAGTTTTTGCTTATGCCCTTTGCCCTTCTTGGATGCCCTTCCCTAACCCTTCAAGGGCCACTCAGTTGAAGTTCCAGAAGACTACAAATTCCTCAATCCAGTCATCTCACACAATTCTGGGTTTCAGAGCCAGAAGTGCCCCCACCACAGAAATCTCTGGCTCAATGCCAAGTCAGGAAGCTGCAAAGAGCAAGGAGGGCCTGTGTTCCAGTCCTCAAAGGATGGGGAAGGGGAATGACAGCCAGGCAGCTGTTCCTTTCAGATCCCGAACCGTCAGATTTTTCCTCCAAATCTTGCTTGGGACAAGGGGTTAAATGATGTTGACAGAAGGGTGATTGAAGAAAGAGACAGGACTGGTTGAGAGATTGCCCAACACTTTGGGAGGCTGAGGTGGAAAGATGGCTTGAGCCCAGGGGTTTAAAACCAGCTTGGGCAATATAGCAAGACCCCATTTCTAAAAAAAAAAATTATTTTTAATTAGCTGGGTGTGGTGGCGTCCGCCTGTGGTCCCAGCTATTTGTGCACTGAGGCAAGGAAAATCGCCTGAACCCAGGAGGTGGAGGCTGCAGTGAGCTGTGATTGTGCCACTCCAGCCTGGGTGACAGAGTGAGACCCTGTCTCAAAACATATAAACGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTATTCCAGGGAACATTAAGACTTAGAGGCAAACTCCAGAACTTAAAGAAAAAACATGAAAGTGCTAAAAAATTCCGTGCTTGTGGAGAGAGAATTCCAACTCTTTCCCTGAACCCGGGCTGAGTCCCTTCGCTGTGAGGTTGGGGGGATGAGTGGGAGCCCAGTGCCTGGCGCCGAGTGAAGGCAGCCATTGTGAGTTCCTGGGCTGGGGAAGGGAGGCTCAGTGCCCAAGGATGTGACCAGGCGTGAGGCCCGGGGAAAGAGCAGCGCGGCGACCCCGCAGTATCCGAGGCGACAGGGTGTGGGGGAGGGGGTGGGGAGTCAAAGGCGGAGTCACGGGCTCCGCCCTCTTTCTCCTGCTTGGCGCGAGCACAGGCACCGCGTGGTTCTCACAACCAGCAGCTCGGCTCACTGAGACCCGGTGGTCCAGACGCTGCTCCTGGCTGGGGTGGCGCTGCAGGGAGAACCGCGAGCTCTCAGGGGTCGGCGGGTGACTTCTTTCCGGAAGAAAGCGAGGAACGCGCTCTGCGGGGTGAGCCGGACTCCCCAACTCCGGACGATCAGCCCAGGACTGAGAGCCCCGAAGTCCCCAACCACAAGTAAGCGGCCCCAGAAGGACAAGTCTAGGTCGCCGTCCAGAGCGCCATCGCCGCGCCCGCCCTTCGTTTGTGCCACATCGCCTTCCACGTGCCCGCCGGGCAGCCCCTAGCCCGGAACCTGCAGCGCCTCTTCGGCTTCCAGCCCCTGGCTTCGCGGGAGGTGGACGGCTGGCGGCAGCTAGCCCTGCGCAGCGGCGACGCGGTCTTTTTGGTGAACGAGGGCGCAGGGTCTGGAGAGCCGCTGTACGGCCTGGATCCGCGTCACGCCGTGCCCAGCGCCACAAACCTGTGCTTCGACGTGGCGGACGCCGGCGCTGCAACCCGGGAGCTGGCAGCGCTGGGCTGCAGCGTGCCTGTCCCTCCCGTTCGCGTGCGGGACGCGCAGGGTGCCGCCACTTACGCCGTGGTCAGCTCGCCTGCCGGCATCCTCAGCCTGACCTTGCTGGAGCGCGCTGGCTACCGCGGACCCTTCCTACCCGGCTTCAGGCCCGTGTCCTCTGCGCCTGGCCCCGGGTGGGTCAGCCGCGTGGACCACCTGACCTTGGCCTGCACCCCCGGCAGCTCCCCCACACTTTTGCGCTGGTTCCACGACTGCCTGGGCTTTTGCCACTTGCCGCTGAGCCCAGGTGAGGATCCCGAGCTGGGCCTCGAAATGACAGCAGGGTTTGGGCTTGGGGGACTGAGGCTTACAGCCCTGCAGGCCCAGCCGGGCAGCATTGTCCCCACTCTTGTTCTGGCTGAGTCCCTTCCGGGGGCGACGACACGACAGGACCAGGTGGAGCAGTTCCTGGCCCGGCACAAGGGGCCAGGCCTGCAGCACGTGGGGCTGTATACGCCTAACATTGTGGAGGCCACTGAGGGGGTGGCAACTGCTGGAGGCCAGTTCCTGGCTCCCCCTGGGGCATACTACCAGCAGCCAGGAAAGGAGAGGCAGATCCGAGCTGCAGGGCACGAGCCTCATCTGCTTGCTCGACAGGGGATCCTGCTAGATGGTGATAAAGGCAAGTTTCTGCTTCAGGTCTTCACCAAGTCCCTTTTTACTGAGGACACTTTCTTCCTGGAGCTGATTCAGAGGCAGGGGGCCACTGGCTTTGGTCAGGGCAACATCAGAGCTCTGTGGCAGTCCGTACAGGAGCAATCTGCCAGGAGCCAGGAAGCCTAAGGATGCCCAGGGCTGGGTGCAGCCAGCTGTCCTGCAGCTCTGGGGAGACCAGCACAGAACTGAGGAACATCTGCAGGAGGCCCAACTAGTGAAAGGCTTTGCCTCCGGGGGGCAGGTGTGACTTCCATTTCATCAGTGCCTGCCAGAAGCTGTGTCTCTCATTGGGCTCCAAAGAGGTGGGATTTTTTAAAACTAAAACATTTCTTATATACAGTCTATAATAAATATGTAAGATACAAAGAACAATAAAAGAATTACACACTAGGAAATAGAACATAACCAATACTTTCGAGTCCTCCCTGTGTCCCGCTGTGATTCTATTTCCTCCCACCCACTCCTCAAATCCTGTCATTATTAGCCCTTTGCTTTTCTGTATTGTTTCACTCCGTATGTAACATAACCCTAAATAAATTATTTCGTATTTGAGGTAGGAATTTAAAACAGAACAAATCTTCTCCTGTGCTTCCTCTCCCCCTAGGGAGCGACCACTCAGGTGGGGAGGGGCTGGGTGAGAGTTGAGCCCAACTACCTACTCCAGAGTGATGCCACCACTCCAATTAGAGCTGACCTGAGACGTAAACAGAGGGTGTTGTGTGTCAGCCACTGGCAGGTTCTCCCTGTAGCTGCCTTGCCTTTCTCCTGGGGGTTGGAGGGCAGATCAGTCTGGACAGAACACCCCCACTCCAACCCCATCTGCCCGGGGCTGGCTGGGAGTTCAGCCAGAGAAAGTCAGAACCAAGCAGAACGTCACCACTTTTCTGGGTCCCTCCCTCAGATATAAGGGGTGAGGGGGCTAGGGAGAGGGTGGAAGGCTGTCCAAAATAGCTACAAAAGGGCGGGCGTGGTGGCTCATGCCTGTAATCCAAGCACTTTAGGAGGCTGAAGTGGGAGAATCACTTGAGGCCAGAATCACCTGAGTTCGAAACCAGTCTGA
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Task1_train_845
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Here’s a variant in HPDL (4-hydroxyphenylpyruvate dioxygenase like) located on Chromosome 1. What is the predicted biological effect — harmless or disease-causing?
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Pathogenic; Spastic paraplegia 83, autosomal recessive
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CCCAAAGTGCTGAGATTACAGGTGTGAGCCACTGTGCCCAGCTCTGAAAAACTTTTTAAAATAAATAAATATTAGAATATGTGGGAAAATAAAATTAATTAAAAAAAAAAACAGTAACTACAATAGCAACAGCTACTATTTACTGAACACTTACTCCACCTCACTTAATCACAACTCTTTGAAGTAGGTACTATTATTTCCATTTTTACAGATGGGCAAATTAAGGCTCAGAGGCGTTAAGCAACTTGCCCATACAGACAGTAAGTGTTGCTGGTGATTCAAACCCAGGTCCGTCTGGCTTTTGGAACTCATGTCCTCACATTCACTGGTCTGCAGAGTAGCACCAAGTACCTTTTACCACCCTGACCAGCTCCTGGGTACTGCCCTCCTGCCTGCAGGCCTGAACACCATGACATCCAGCTAGCCCCTGTCCCCTATGACATCCTTCTCCCTCTTGCCAATGAAACCCAGTAGATCAGGCTGCCTGACAAAAAAATTTCTTGTGATGCCTTGGACTGTGGCATTCATCCTAAATGCCTCCCTAACAGCATGGCCCATTGCTCCTCTAAGAGTCTGGCTCACACTCTTACTGAGTTTTTGCTTATGCCCTTTGCCCTTCTTGGATGCCCTTCCCTAACCCTTCAAGGGCCACTCAGTTGAAGTTCCAGAAGACTACAAATTCCTCAATCCAGTCATCTCACACAATTCTGGGTTTCAGAGCCAGAAGTGCCCCCACCACAGAAATCTCTGGCTCAATGCCAAGTCAGGAAGCTGCAAAGAGCAAGGAGGGCCTGTGTTCCAGTCCTCAAAGGATGGGGAAGGGGAATGACAGCCAGGCAGCTGTTCCTTTCAGATCCCGAACCGTCAGATTTTTCCTCCAAATCTTGCTTGGGACAAGGGGTTAAATGATGTTGACAGAAGGGTGATTGAAGAAAGAGACAGGACTGGTTGAGAGATTGCCCAACACTTTGGGAGGCTGAGGTGGAAAGATGGCTTGAGCCCAGGGGTTTAAAACCAGCTTGGGCAATATAGCAAGACCCCATTTCTAAAAAAAAAAATTATTTTTAATTAGCTGGGTGTGGTGGCGTCCGCCTGTGGTCCCAGCTATTTGTGCACTGAGGCAAGGAAAATCGCCTGAACCCAGGAGGTGGAGGCTGCAGTGAGCTGTGATTGTGCCACTCCAGCCTGGGTGACAGAGTGAGACCCTGTCTCAAAACATATAAACGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTATTCCAGGGAACATTAAGACTTAGAGGCAAACTCCAGAACTTAAAGAAAAAACATGAAAGTGCTAAAAAATTCCGTGCTTGTGGAGAGAGAATTCCAACTCTTTCCCTGAACCCGGGCTGAGTCCCTTCGCTGTGAGGTTGGGGGGATGAGTGGGAGCCCAGTGCCTGGCGCCGAGTGAAGGCAGCCATTGTGAGTTCCTGGGCTGGGGAAGGGAGGCTCAGTGCCCAAGGATGTGACCAGGCGTGAGGCCCGGGGAAAGAGCAGCGCGGCGACCCCGCAGTATCCGAGGCGACAGGGTGTGGGGGAGGGGGTGGGGAGTCAAAGGCGGAGTCACGGGCTCCGCCCTCTTTCTCCTGCTTGGCGCGAGCACAGGCACCGCGTGGTTCTCACAACCAGCAGCTCGGCTCACTGAGACCCGGTGGTCCAGACGCTGCTCCTGGCTGGGGTGGCGCTGCAGGGAGAACCGCGAGCTCTCAGGGGTCGGCGGGTGACTTCTTTCCGGAAGAAAGCGAGGAACGCGCTCTGCGGGGTGAGCCGGACTCCCCAACTCCGGACGATCAGCCCAGGACTGAGAGCCCCGAAGTCCCCAACCACAAGTAAGCGGCCCCAGAAGGACAAGTCTAGGTCGCCGTCCAGAGCGCCATGGCCGCGCCCGCCCTTCGTTTGTGCCACATCGCCTTCCACGTGCCCGCCGGGCAGCCCCTAGCCCGGAACCTGCAGCGCCTCTTCGGCTTCCAGCCCCTGGCTTCGCGGGAGGTGGACGGCTGGCGGCAGCTAGCCCTGCGCAGCGGCGACGCGGTCTTTTTGGTGAACGAGGGCGCAGGGTCTGGAGAGCCGCTGTACGGCCTGGATCCGCGTCACGCCGTGCCCAGCGCCACAAACCTGTGCTTCGACGTGGCGGACGCCGGCGCTGCAACCCGGGAGCTGGCAGCGCTGGGCTGCAGCGTGCCTGTCCCTCCCGTTCGCGTGCGGGACGCGCAGGGTGCCGCCACTTACGCCGTGGTCAGCTCGCCTGCCGGCATCCTCAGCCTGACCTTGCTGGAGCGCGCTGGCTACCGCGGACCCTTCCTACCCGGCTTCAGGCCCGTGTCCTCTGCGCCTGGCCCCGGGTGGGTCAGCCGCGTGGACCACCTGACCTTGGCCTGCACCCCCGGCAGCTCCCCCACACTTTTGCGCTGGTTCCACGACTGCCTGGGCTTTTGCCACTTGCCGCTGAGCCCAGGTGAGGATCCCGAGCTGGGCCTCGAAATGACAGCAGGGTTTGGGCTTGGGGGACTGAGGCTTACAGCCCTGCAGGCCCAGCCGGGCAGCATTGTCCCCACTCTTGTTCTGGCTGAGTCCCTTCCGGGGGCGACGACACGACAGGACCAGGTGGAGCAGTTCCTGGCCCGGCACAAGGGGCCAGGCCTGCAGCACGTGGGGCTGTATACGCCTAACATTGTGGAGGCCACTGAGGGGGTGGCAACTGCTGGAGGCCAGTTCCTGGCTCCCCCTGGGGCATACTACCAGCAGCCAGGAAAGGAGAGGCAGATCCGAGCTGCAGGGCACGAGCCTCATCTGCTTGCTCGACAGGGGATCCTGCTAGATGGTGATAAAGGCAAGTTTCTGCTTCAGGTCTTCACCAAGTCCCTTTTTACTGAGGACACTTTCTTCCTGGAGCTGATTCAGAGGCAGGGGGCCACTGGCTTTGGTCAGGGCAACATCAGAGCTCTGTGGCAGTCCGTACAGGAGCAATCTGCCAGGAGCCAGGAAGCCTAAGGATGCCCAGGGCTGGGTGCAGCCAGCTGTCCTGCAGCTCTGGGGAGACCAGCACAGAACTGAGGAACATCTGCAGGAGGCCCAACTAGTGAAAGGCTTTGCCTCCGGGGGGCAGGTGTGACTTCCATTTCATCAGTGCCTGCCAGAAGCTGTGTCTCTCATTGGGCTCCAAAGAGGTGGGATTTTTTAAAACTAAAACATTTCTTATATACAGTCTATAATAAATATGTAAGATACAAAGAACAATAAAAGAATTACACACTAGGAAATAGAACATAACCAATACTTTCGAGTCCTCCCTGTGTCCCGCTGTGATTCTATTTCCTCCCACCCACTCCTCAAATCCTGTCATTATTAGCCCTTTGCTTTTCTGTATTGTTTCACTCCGTATGTAACATAACCCTAAATAAATTATTTCGTATTTGAGGTAGGAATTTAAAACAGAACAAATCTTCTCCTGTGCTTCCTCTCCCCCTAGGGAGCGACCACTCAGGTGGGGAGGGGCTGGGTGAGAGTTGAGCCCAACTACCTACTCCAGAGTGATGCCACCACTCCAATTAGAGCTGACCTGAGACGTAAACAGAGGGTGTTGTGTGTCAGCCACTGGCAGGTTCTCCCTGTAGCTGCCTTGCCTTTCTCCTGGGGGTTGGAGGGCAGATCAGTCTGGACAGAACACCCCCACTCCAACCCCATCTGCCCGGGGCTGGCTGGGAGTTCAGCCAGAGAAAGTCAGAACCAAGCAGAACGTCACCACTTTTCTGGGTCCCTCCCTCAGATATAAGGGGTGAGGGGGCTAGGGAGAGGGTGGAAGGCTGTCCAAAATAGCTACAAAAGGGCGGGCGTGGTGGCTCATGCCTGTAATCCAAGCACTTTAGGAGGCTGAAGTGGGAGAATCACTTGAGGCCAGAATCACCTGAGTTCGAAACCAGTCTGAGCAACATAGCGAGACCCCCATCTCAAAAAAATACAACATAAAATAACTACAAAAATAAGCACTTTACTAACAACAGGATTCTCAGGGAATGGGGGCTTTCAGAGGTGTCACTGGGCTGCACTGTTGAGGCTGTGTGCATCAGTGGA
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CCCAAAGTGCTGAGATTACAGGTGTGAGCCACTGTGCCCAGCTCTGAAAAACTTTTTAAAATAAATAAATATTAGAATATGTGGGAAAATAAAATTAATTAAAAAAAAAAACAGTAACTACAATAGCAACAGCTACTATTTACTGAACACTTACTCCACCTCACTTAATCACAACTCTTTGAAGTAGGTACTATTATTTCCATTTTTACAGATGGGCAAATTAAGGCTCAGAGGCGTTAAGCAACTTGCCCATACAGACAGTAAGTGTTGCTGGTGATTCAAACCCAGGTCCGTCTGGCTTTTGGAACTCATGTCCTCACATTCACTGGTCTGCAGAGTAGCACCAAGTACCTTTTACCACCCTGACCAGCTCCTGGGTACTGCCCTCCTGCCTGCAGGCCTGAACACCATGACATCCAGCTAGCCCCTGTCCCCTATGACATCCTTCTCCCTCTTGCCAATGAAACCCAGTAGATCAGGCTGCCTGACAAAAAAATTTCTTGTGATGCCTTGGACTGTGGCATTCATCCTAAATGCCTCCCTAACAGCATGGCCCATTGCTCCTCTAAGAGTCTGGCTCACACTCTTACTGAGTTTTTGCTTATGCCCTTTGCCCTTCTTGGATGCCCTTCCCTAACCCTTCAAGGGCCACTCAGTTGAAGTTCCAGAAGACTACAAATTCCTCAATCCAGTCATCTCACACAATTCTGGGTTTCAGAGCCAGAAGTGCCCCCACCACAGAAATCTCTGGCTCAATGCCAAGTCAGGAAGCTGCAAAGAGCAAGGAGGGCCTGTGTTCCAGTCCTCAAAGGATGGGGAAGGGGAATGACAGCCAGGCAGCTGTTCCTTTCAGATCCCGAACCGTCAGATTTTTCCTCCAAATCTTGCTTGGGACAAGGGGTTAAATGATGTTGACAGAAGGGTGATTGAAGAAAGAGACAGGACTGGTTGAGAGATTGCCCAACACTTTGGGAGGCTGAGGTGGAAAGATGGCTTGAGCCCAGGGGTTTAAAACCAGCTTGGGCAATATAGCAAGACCCCATTTCTAAAAAAAAAAATTATTTTTAATTAGCTGGGTGTGGTGGCGTCCGCCTGTGGTCCCAGCTATTTGTGCACTGAGGCAAGGAAAATCGCCTGAACCCAGGAGGTGGAGGCTGCAGTGAGCTGTGATTGTGCCACTCCAGCCTGGGTGACAGAGTGAGACCCTGTCTCAAAACATATAAACGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTATTCCAGGGAACATTAAGACTTAGAGGCAAACTCCAGAACTTAAAGAAAAAACATGAAAGTGCTAAAAAATTCCGTGCTTGTGGAGAGAGAATTCCAACTCTTTCCCTGAACCCGGGCTGAGTCCCTTCGCTGTGAGGTTGGGGGGATGAGTGGGAGCCCAGTGCCTGGCGCCGAGTGAAGGCAGCCATTGTGAGTTCCTGGGCTGGGGAAGGGAGGCTCAGTGCCCAAGGATGTGACCAGGCGTGAGGCCCGGGGAAAGAGCAGCGCGGCGACCCCGCAGTATCCGAGGCGACAGGGTGTGGGGGAGGGGGTGGGGAGTCAAAGGCGGAGTCACGGGCTCCGCCCTCTTTCTCCTGCTTGGCGCGAGCACAGGCACCGCGTGGTTCTCACAACCAGCAGCTCGGCTCACTGAGACCCGGTGGTCCAGACGCTGCTCCTGGCTGGGGTGGCGCTGCAGGGAGAACCGCGAGCTCTCAGGGGTCGGCGGGTGACTTCTTTCCGGAAGAAAGCGAGGAACGCGCTCTGCGGGGTGAGCCGGACTCCCCAACTCCGGACGATCAGCCCAGGACTGAGAGCCCCGAAGTCCCCAACCACAAGTAAGCGGCCCCAGAAGGACAAGTCTAGGTCGCCGTCCAGAGCGCCATGGCCGCGCCCGCCCTTCGTTTGTGCCACATCGCCTTCCACGTGCCCGCCGGGCAGCCCCTAGCCCGGAACCTGCAGCGCCTCTTCGGCTTCCAGCCCCTGGCTTCGCGGGAGGTGGACGGCTGGCGGCAGCTAGCCCTGCGCAGCGACGACGCGGTCTTTTTGGTGAACGAGGGCGCAGGGTCTGGAGAGCCGCTGTACGGCCTGGATCCGCGTCACGCCGTGCCCAGCGCCACAAACCTGTGCTTCGACGTGGCGGACGCCGGCGCTGCAACCCGGGAGCTGGCAGCGCTGGGCTGCAGCGTGCCTGTCCCTCCCGTTCGCGTGCGGGACGCGCAGGGTGCCGCCACTTACGCCGTGGTCAGCTCGCCTGCCGGCATCCTCAGCCTGACCTTGCTGGAGCGCGCTGGCTACCGCGGACCCTTCCTACCCGGCTTCAGGCCCGTGTCCTCTGCGCCTGGCCCCGGGTGGGTCAGCCGCGTGGACCACCTGACCTTGGCCTGCACCCCCGGCAGCTCCCCCACACTTTTGCGCTGGTTCCACGACTGCCTGGGCTTTTGCCACTTGCCGCTGAGCCCAGGTGAGGATCCCGAGCTGGGCCTCGAAATGACAGCAGGGTTTGGGCTTGGGGGACTGAGGCTTACAGCCCTGCAGGCCCAGCCGGGCAGCATTGTCCCCACTCTTGTTCTGGCTGAGTCCCTTCCGGGGGCGACGACACGACAGGACCAGGTGGAGCAGTTCCTGGCCCGGCACAAGGGGCCAGGCCTGCAGCACGTGGGGCTGTATACGCCTAACATTGTGGAGGCCACTGAGGGGGTGGCAACTGCTGGAGGCCAGTTCCTGGCTCCCCCTGGGGCATACTACCAGCAGCCAGGAAAGGAGAGGCAGATCCGAGCTGCAGGGCACGAGCCTCATCTGCTTGCTCGACAGGGGATCCTGCTAGATGGTGATAAAGGCAAGTTTCTGCTTCAGGTCTTCACCAAGTCCCTTTTTACTGAGGACACTTTCTTCCTGGAGCTGATTCAGAGGCAGGGGGCCACTGGCTTTGGTCAGGGCAACATCAGAGCTCTGTGGCAGTCCGTACAGGAGCAATCTGCCAGGAGCCAGGAAGCCTAAGGATGCCCAGGGCTGGGTGCAGCCAGCTGTCCTGCAGCTCTGGGGAGACCAGCACAGAACTGAGGAACATCTGCAGGAGGCCCAACTAGTGAAAGGCTTTGCCTCCGGGGGGCAGGTGTGACTTCCATTTCATCAGTGCCTGCCAGAAGCTGTGTCTCTCATTGGGCTCCAAAGAGGTGGGATTTTTTAAAACTAAAACATTTCTTATATACAGTCTATAATAAATATGTAAGATACAAAGAACAATAAAAGAATTACACACTAGGAAATAGAACATAACCAATACTTTCGAGTCCTCCCTGTGTCCCGCTGTGATTCTATTTCCTCCCACCCACTCCTCAAATCCTGTCATTATTAGCCCTTTGCTTTTCTGTATTGTTTCACTCCGTATGTAACATAACCCTAAATAAATTATTTCGTATTTGAGGTAGGAATTTAAAACAGAACAAATCTTCTCCTGTGCTTCCTCTCCCCCTAGGGAGCGACCACTCAGGTGGGGAGGGGCTGGGTGAGAGTTGAGCCCAACTACCTACTCCAGAGTGATGCCACCACTCCAATTAGAGCTGACCTGAGACGTAAACAGAGGGTGTTGTGTGTCAGCCACTGGCAGGTTCTCCCTGTAGCTGCCTTGCCTTTCTCCTGGGGGTTGGAGGGCAGATCAGTCTGGACAGAACACCCCCACTCCAACCCCATCTGCCCGGGGCTGGCTGGGAGTTCAGCCAGAGAAAGTCAGAACCAAGCAGAACGTCACCACTTTTCTGGGTCCCTCCCTCAGATATAAGGGGTGAGGGGGCTAGGGAGAGGGTGGAAGGCTGTCCAAAATAGCTACAAAAGGGCGGGCGTGGTGGCTCATGCCTGTAATCCAAGCACTTTAGGAGGCTGAAGTGGGAGAATCACTTGAGGCCAGAATCACCTGAGTTCGAAACCAGTCTGAGCAACATAGCGAGACCCCCATCTCAAAAAAATACAACATAAAATAACTACAAAAATAAGCACTTTACTAACAACAGGATTCTCAGGGAATGGGGGCTTTCAGAGGTGTCACTGGGCTGCACTGTTGAGGCTGTGTGCATCAGTGGA
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Task1_train_846
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This alteration in HPDL (4-hydroxyphenylpyruvate dioxygenase like) on Chromosome 1 may affect gene function. Does it lead to a disease or is it benign?
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Pathogenic; Spastic ataxia
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CCCAAAGTGCTGAGATTACAGGTGTGAGCCACTGTGCCCAGCTCTGAAAAACTTTTTAAAATAAATAAATATTAGAATATGTGGGAAAATAAAATTAATTAAAAAAAAAAACAGTAACTACAATAGCAACAGCTACTATTTACTGAACACTTACTCCACCTCACTTAATCACAACTCTTTGAAGTAGGTACTATTATTTCCATTTTTACAGATGGGCAAATTAAGGCTCAGAGGCGTTAAGCAACTTGCCCATACAGACAGTAAGTGTTGCTGGTGATTCAAACCCAGGTCCGTCTGGCTTTTGGAACTCATGTCCTCACATTCACTGGTCTGCAGAGTAGCACCAAGTACCTTTTACCACCCTGACCAGCTCCTGGGTACTGCCCTCCTGCCTGCAGGCCTGAACACCATGACATCCAGCTAGCCCCTGTCCCCTATGACATCCTTCTCCCTCTTGCCAATGAAACCCAGTAGATCAGGCTGCCTGACAAAAAAATTTCTTGTGATGCCTTGGACTGTGGCATTCATCCTAAATGCCTCCCTAACAGCATGGCCCATTGCTCCTCTAAGAGTCTGGCTCACACTCTTACTGAGTTTTTGCTTATGCCCTTTGCCCTTCTTGGATGCCCTTCCCTAACCCTTCAAGGGCCACTCAGTTGAAGTTCCAGAAGACTACAAATTCCTCAATCCAGTCATCTCACACAATTCTGGGTTTCAGAGCCAGAAGTGCCCCCACCACAGAAATCTCTGGCTCAATGCCAAGTCAGGAAGCTGCAAAGAGCAAGGAGGGCCTGTGTTCCAGTCCTCAAAGGATGGGGAAGGGGAATGACAGCCAGGCAGCTGTTCCTTTCAGATCCCGAACCGTCAGATTTTTCCTCCAAATCTTGCTTGGGACAAGGGGTTAAATGATGTTGACAGAAGGGTGATTGAAGAAAGAGACAGGACTGGTTGAGAGATTGCCCAACACTTTGGGAGGCTGAGGTGGAAAGATGGCTTGAGCCCAGGGGTTTAAAACCAGCTTGGGCAATATAGCAAGACCCCATTTCTAAAAAAAAAAATTATTTTTAATTAGCTGGGTGTGGTGGCGTCCGCCTGTGGTCCCAGCTATTTGTGCACTGAGGCAAGGAAAATCGCCTGAACCCAGGAGGTGGAGGCTGCAGTGAGCTGTGATTGTGCCACTCCAGCCTGGGTGACAGAGTGAGACCCTGTCTCAAAACATATAAACGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTATTCCAGGGAACATTAAGACTTAGAGGCAAACTCCAGAACTTAAAGAAAAAACATGAAAGTGCTAAAAAATTCCGTGCTTGTGGAGAGAGAATTCCAACTCTTTCCCTGAACCCGGGCTGAGTCCCTTCGCTGTGAGGTTGGGGGGATGAGTGGGAGCCCAGTGCCTGGCGCCGAGTGAAGGCAGCCATTGTGAGTTCCTGGGCTGGGGAAGGGAGGCTCAGTGCCCAAGGATGTGACCAGGCGTGAGGCCCGGGGAAAGAGCAGCGCGGCGACCCCGCAGTATCCGAGGCGACAGGGTGTGGGGGAGGGGGTGGGGAGTCAAAGGCGGAGTCACGGGCTCCGCCCTCTTTCTCCTGCTTGGCGCGAGCACAGGCACCGCGTGGTTCTCACAACCAGCAGCTCGGCTCACTGAGACCCGGTGGTCCAGACGCTGCTCCTGGCTGGGGTGGCGCTGCAGGGAGAACCGCGAGCTCTCAGGGGTCGGCGGGTGACTTCTTTCCGGAAGAAAGCGAGGAACGCGCTCTGCGGGGTGAGCCGGACTCCCCAACTCCGGACGATCAGCCCAGGACTGAGAGCCCCGAAGTCCCCAACCACAAGTAAGCGGCCCCAGAAGGACAAGTCTAGGTCGCCGTCCAGAGCGCCATGGCCGCGCCCGCCCTTCGTTTGTGCCACATCGCCTTCCACGTGCCCGCCGGGCAGCCCCTAGCCCGGAACCTGCAGCGCCTCTTCGGCTTCCAGCCCCTGGCTTCGCGGGAGGTGGACGGCTGGCGGCAGCTAGCCCTGCGCAGCGGCGACGCGGTCTTTTTGGTGAACGAGGGCGCAGGGTCTGGAGAGCCGCTGTACGGCCTGGATCCGCGTCACGCCGTGCCCAGCGCCACAAACCTGTGCTTCGACGTGGCGGACGCCGGCGCTGCAACCCGGGAGCTGGCAGCGCTGGGCTGCAGCGTGCCTGTCCCTCCCGTTCGCGTGCGGGACGCGCAGGGTGCCGCCACTTACGCCGTGGTCAGCTCGCCTGCCGGCATCCTCAGCCTGACCTTGCTGGAGCGCGCTGGCTACCGCGGACCCTTCCTACCCGGCTTCAGGCCCGTGTCCTCTGCGCCTGGCCCCGGGTGGGTCAGCCGCGTGGACCACCTGACCTTGGCCTGCACCCCCGGCAGCTCCCCCACACTTTTGCGCTGGTTCCACGACTGCCTGGGCTTTTGCCACTTGCCGCTGAGCCCAGGTGAGGATCCCGAGCTGGGCCTCGAAATGACAGCAGGGTTTGGGCTTGGGGGACTGAGGCTTACAGCCCTGCAGGCCCAGCCGGGCAGCATTGTCCCCACTCTTGTTCTGGCTGAGTCCCTTCCGGGGGCGACGACACGACAGGACCAGGTGGAGCAGTTCCTGGCCCGGCACAAGGGGCCAGGCCTGCAGCACGTGGGGCTGTATACGCCTAACATTGTGGAGGCCACTGAGGGGGTGGCAACTGCTGGAGGCCAGTTCCTGGCTCCCCCTGGGGCATACTACCAGCAGCCAGGAAAGGAGAGGCAGATCCGAGCTGCAGGGCACGAGCCTCATCTGCTTGCTCGACAGGGGATCCTGCTAGATGGTGATAAAGGCAAGTTTCTGCTTCAGGTCTTCACCAAGTCCCTTTTTACTGAGGACACTTTCTTCCTGGAGCTGATTCAGAGGCAGGGGGCCACTGGCTTTGGTCAGGGCAACATCAGAGCTCTGTGGCAGTCCGTACAGGAGCAATCTGCCAGGAGCCAGGAAGCCTAAGGATGCCCAGGGCTGGGTGCAGCCAGCTGTCCTGCAGCTCTGGGGAGACCAGCACAGAACTGAGGAACATCTGCAGGAGGCCCAACTAGTGAAAGGCTTTGCCTCCGGGGGGCAGGTGTGACTTCCATTTCATCAGTGCCTGCCAGAAGCTGTGTCTCTCATTGGGCTCCAAAGAGGTGGGATTTTTTAAAACTAAAACATTTCTTATATACAGTCTATAATAAATATGTAAGATACAAAGAACAATAAAAGAATTACACACTAGGAAATAGAACATAACCAATACTTTCGAGTCCTCCCTGTGTCCCGCTGTGATTCTATTTCCTCCCACCCACTCCTCAAATCCTGTCATTATTAGCCCTTTGCTTTTCTGTATTGTTTCACTCCGTATGTAACATAACCCTAAATAAATTATTTCGTATTTGAGGTAGGAATTTAAAACAGAACAAATCTTCTCCTGTGCTTCCTCTCCCCCTAGGGAGCGACCACTCAGGTGGGGAGGGGCTGGGTGAGAGTTGAGCCCAACTACCTACTCCAGAGTGATGCCACCACTCCAATTAGAGCTGACCTGAGACGTAAACAGAGGGTGTTGTGTGTCAGCCACTGGCAGGTTCTCCCTGTAGCTGCCTTGCCTTTCTCCTGGGGGTTGGAGGGCAGATCAGTCTGGACAGAACACCCCCACTCCAACCCCATCTGCCCGGGGCTGGCTGGGAGTTCAGCCAGAGAAAGTCAGAACCAAGCAGAACGTCACCACTTTTCTGGGTCCCTCCCTCAGATATAAGGGGTGAGGGGGCTAGGGAGAGGGTGGAAGGCTGTCCAAAATAGCTACAAAAGGGCGGGCGTGGTGGCTCATGCCTGTAATCCAAGCACTTTAGGAGGCTGAAGTGGGAGAATCACTTGAGGCCAGAATCACCTGAGTTCGAAACCAGTCTGAGCAACATAGCGAGACCCCCATCTCAAAAAAATACAACATAAAATAACTACAAAAATAAGCACTTTACTAACAACAGGATTCTCAGGGAATGGGGGCTTTCAGAGGTGTCACTGGGCTGCACTGTTGAGGCTGTGTGCATCAGTGGA
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CCCAAAGTGCTGAGATTACAGGTGTGAGCCACTGTGCCCAGCTCTGAAAAACTTTTTAAAATAAATAAATATTAGAATATGTGGGAAAATAAAATTAATTAAAAAAAAAAACAGTAACTACAATAGCAACAGCTACTATTTACTGAACACTTACTCCACCTCACTTAATCACAACTCTTTGAAGTAGGTACTATTATTTCCATTTTTACAGATGGGCAAATTAAGGCTCAGAGGCGTTAAGCAACTTGCCCATACAGACAGTAAGTGTTGCTGGTGATTCAAACCCAGGTCCGTCTGGCTTTTGGAACTCATGTCCTCACATTCACTGGTCTGCAGAGTAGCACCAAGTACCTTTTACCACCCTGACCAGCTCCTGGGTACTGCCCTCCTGCCTGCAGGCCTGAACACCATGACATCCAGCTAGCCCCTGTCCCCTATGACATCCTTCTCCCTCTTGCCAATGAAACCCAGTAGATCAGGCTGCCTGACAAAAAAATTTCTTGTGATGCCTTGGACTGTGGCATTCATCCTAAATGCCTCCCTAACAGCATGGCCCATTGCTCCTCTAAGAGTCTGGCTCACACTCTTACTGAGTTTTTGCTTATGCCCTTTGCCCTTCTTGGATGCCCTTCCCTAACCCTTCAAGGGCCACTCAGTTGAAGTTCCAGAAGACTACAAATTCCTCAATCCAGTCATCTCACACAATTCTGGGTTTCAGAGCCAGAAGTGCCCCCACCACAGAAATCTCTGGCTCAATGCCAAGTCAGGAAGCTGCAAAGAGCAAGGAGGGCCTGTGTTCCAGTCCTCAAAGGATGGGGAAGGGGAATGACAGCCAGGCAGCTGTTCCTTTCAGATCCCGAACCGTCAGATTTTTCCTCCAAATCTTGCTTGGGACAAGGGGTTAAATGATGTTGACAGAAGGGTGATTGAAGAAAGAGACAGGACTGGTTGAGAGATTGCCCAACACTTTGGGAGGCTGAGGTGGAAAGATGGCTTGAGCCCAGGGGTTTAAAACCAGCTTGGGCAATATAGCAAGACCCCATTTCTAAAAAAAAAAATTATTTTTAATTAGCTGGGTGTGGTGGCGTCCGCCTGTGGTCCCAGCTATTTGTGCACTGAGGCAAGGAAAATCGCCTGAACCCAGGAGGTGGAGGCTGCAGTGAGCTGTGATTGTGCCACTCCAGCCTGGGTGACAGAGTGAGACCCTGTCTCAAAACATATAAACGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTATTCCAGGGAACATTAAGACTTAGAGGCAAACTCCAGAACTTAAAGAAAAAACATGAAAGTGCTAAAAAATTCCGTGCTTGTGGAGAGAGAATTCCAACTCTTTCCCTGAACCCGGGCTGAGTCCCTTCGCTGTGAGGTTGGGGGGATGAGTGGGAGCCCAGTGCCTGGCGCCGAGTGAAGGCAGCCATTGTGAGTTCCTGGGCTGGGGAAGGGAGGCTCAGTGCCCAAGGATGTGACCAGGCGTGAGGCCCGGGGAAAGAGCAGCGCGGCGACCCCGCAGTATCCGAGGCGACAGGGTGTGGGGGAGGGGGTGGGGAGTCAAAGGCGGAGTCACGGGCTCCGCCCTCTTTCTCCTGCTTGGCGCGAGCACAGGCACCGCGTGGTTCTCACAACCAGCAGCTCGGCTCACTGAGACCCGGTGGTCCAGACGCTGCTCCTGGCTGGGGTGGCGCTGCAGGGAGAACCGCGAGCTCTCAGGGGTCGGCGGGTGACTTCTTTCCGGAAGAAAGCGAGGAACGCGCTCTGCGGGGTGAGCCGGACTCCCCAACTCCGGACGATCAGCCCAGGACTGAGAGCCCCGAAGTCCCCAACCACAAGTAAGCGGCCCCAGAAGGACAAGTCTAGGTCGCCGTCCAGAGCGCCATGGCCGCGCCCGCCCTTCGTTTGTGCCACATCGCCTTCCACGTGCCCGCCGGGCAGCCCCTAGCCCGGAACCTGCAGCGCCTCTTCGGCTTCCAGCCCCTGGCTTCGCGGGAGGTGGACGGCTGGCGGCAGCTAGCCCTGCGCAGCGACGACGCGGTCTTTTTGGTGAACGAGGGCGCAGGGTCTGGAGAGCCGCTGTACGGCCTGGATCCGCGTCACGCCGTGCCCAGCGCCACAAACCTGTGCTTCGACGTGGCGGACGCCGGCGCTGCAACCCGGGAGCTGGCAGCGCTGGGCTGCAGCGTGCCTGTCCCTCCCGTTCGCGTGCGGGACGCGCAGGGTGCCGCCACTTACGCCGTGGTCAGCTCGCCTGCCGGCATCCTCAGCCTGACCTTGCTGGAGCGCGCTGGCTACCGCGGACCCTTCCTACCCGGCTTCAGGCCCGTGTCCTCTGCGCCTGGCCCCGGGTGGGTCAGCCGCGTGGACCACCTGACCTTGGCCTGCACCCCCGGCAGCTCCCCCACACTTTTGCGCTGGTTCCACGACTGCCTGGGCTTTTGCCACTTGCCGCTGAGCCCAGGTGAGGATCCCGAGCTGGGCCTCGAAATGACAGCAGGGTTTGGGCTTGGGGGACTGAGGCTTACAGCCCTGCAGGCCCAGCCGGGCAGCATTGTCCCCACTCTTGTTCTGGCTGAGTCCCTTCCGGGGGCGACGACACGACAGGACCAGGTGGAGCAGTTCCTGGCCCGGCACAAGGGGCCAGGCCTGCAGCACGTGGGGCTGTATACGCCTAACATTGTGGAGGCCACTGAGGGGGTGGCAACTGCTGGAGGCCAGTTCCTGGCTCCCCCTGGGGCATACTACCAGCAGCCAGGAAAGGAGAGGCAGATCCGAGCTGCAGGGCACGAGCCTCATCTGCTTGCTCGACAGGGGATCCTGCTAGATGGTGATAAAGGCAAGTTTCTGCTTCAGGTCTTCACCAAGTCCCTTTTTACTGAGGACACTTTCTTCCTGGAGCTGATTCAGAGGCAGGGGGCCACTGGCTTTGGTCAGGGCAACATCAGAGCTCTGTGGCAGTCCGTACAGGAGCAATCTGCCAGGAGCCAGGAAGCCTAAGGATGCCCAGGGCTGGGTGCAGCCAGCTGTCCTGCAGCTCTGGGGAGACCAGCACAGAACTGAGGAACATCTGCAGGAGGCCCAACTAGTGAAAGGCTTTGCCTCCGGGGGGCAGGTGTGACTTCCATTTCATCAGTGCCTGCCAGAAGCTGTGTCTCTCATTGGGCTCCAAAGAGGTGGGATTTTTTAAAACTAAAACATTTCTTATATACAGTCTATAATAAATATGTAAGATACAAAGAACAATAAAAGAATTACACACTAGGAAATAGAACATAACCAATACTTTCGAGTCCTCCCTGTGTCCCGCTGTGATTCTATTTCCTCCCACCCACTCCTCAAATCCTGTCATTATTAGCCCTTTGCTTTTCTGTATTGTTTCACTCCGTATGTAACATAACCCTAAATAAATTATTTCGTATTTGAGGTAGGAATTTAAAACAGAACAAATCTTCTCCTGTGCTTCCTCTCCCCCTAGGGAGCGACCACTCAGGTGGGGAGGGGCTGGGTGAGAGTTGAGCCCAACTACCTACTCCAGAGTGATGCCACCACTCCAATTAGAGCTGACCTGAGACGTAAACAGAGGGTGTTGTGTGTCAGCCACTGGCAGGTTCTCCCTGTAGCTGCCTTGCCTTTCTCCTGGGGGTTGGAGGGCAGATCAGTCTGGACAGAACACCCCCACTCCAACCCCATCTGCCCGGGGCTGGCTGGGAGTTCAGCCAGAGAAAGTCAGAACCAAGCAGAACGTCACCACTTTTCTGGGTCCCTCCCTCAGATATAAGGGGTGAGGGGGCTAGGGAGAGGGTGGAAGGCTGTCCAAAATAGCTACAAAAGGGCGGGCGTGGTGGCTCATGCCTGTAATCCAAGCACTTTAGGAGGCTGAAGTGGGAGAATCACTTGAGGCCAGAATCACCTGAGTTCGAAACCAGTCTGAGCAACATAGCGAGACCCCCATCTCAAAAAAATACAACATAAAATAACTACAAAAATAAGCACTTTACTAACAACAGGATTCTCAGGGAATGGGGGCTTTCAGAGGTGTCACTGGGCTGCACTGTTGAGGCTGTGTGCATCAGTGGA
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Task1_train_847
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A genetic alteration is present in HPDL (4-hydroxyphenylpyruvate dioxygenase like) on Chromosome 1. Is this variant benign or disease-causing, and if the latter, which condition is involved?
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Pathogenic; Neurodevelopmental disorder with progressive spasticity and brain white matter abnormalities
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TACTGCCCTCCTGCCTGCAGGCCTGAACACCATGACATCCAGCTAGCCCCTGTCCCCTATGACATCCTTCTCCCTCTTGCCAATGAAACCCAGTAGATCAGGCTGCCTGACAAAAAAATTTCTTGTGATGCCTTGGACTGTGGCATTCATCCTAAATGCCTCCCTAACAGCATGGCCCATTGCTCCTCTAAGAGTCTGGCTCACACTCTTACTGAGTTTTTGCTTATGCCCTTTGCCCTTCTTGGATGCCCTTCCCTAACCCTTCAAGGGCCACTCAGTTGAAGTTCCAGAAGACTACAAATTCCTCAATCCAGTCATCTCACACAATTCTGGGTTTCAGAGCCAGAAGTGCCCCCACCACAGAAATCTCTGGCTCAATGCCAAGTCAGGAAGCTGCAAAGAGCAAGGAGGGCCTGTGTTCCAGTCCTCAAAGGATGGGGAAGGGGAATGACAGCCAGGCAGCTGTTCCTTTCAGATCCCGAACCGTCAGATTTTTCCTCCAAATCTTGCTTGGGACAAGGGGTTAAATGATGTTGACAGAAGGGTGATTGAAGAAAGAGACAGGACTGGTTGAGAGATTGCCCAACACTTTGGGAGGCTGAGGTGGAAAGATGGCTTGAGCCCAGGGGTTTAAAACCAGCTTGGGCAATATAGCAAGACCCCATTTCTAAAAAAAAAAATTATTTTTAATTAGCTGGGTGTGGTGGCGTCCGCCTGTGGTCCCAGCTATTTGTGCACTGAGGCAAGGAAAATCGCCTGAACCCAGGAGGTGGAGGCTGCAGTGAGCTGTGATTGTGCCACTCCAGCCTGGGTGACAGAGTGAGACCCTGTCTCAAAACATATAAACGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTATTCCAGGGAACATTAAGACTTAGAGGCAAACTCCAGAACTTAAAGAAAAAACATGAAAGTGCTAAAAAATTCCGTGCTTGTGGAGAGAGAATTCCAACTCTTTCCCTGAACCCGGGCTGAGTCCCTTCGCTGTGAGGTTGGGGGGATGAGTGGGAGCCCAGTGCCTGGCGCCGAGTGAAGGCAGCCATTGTGAGTTCCTGGGCTGGGGAAGGGAGGCTCAGTGCCCAAGGATGTGACCAGGCGTGAGGCCCGGGGAAAGAGCAGCGCGGCGACCCCGCAGTATCCGAGGCGACAGGGTGTGGGGGAGGGGGTGGGGAGTCAAAGGCGGAGTCACGGGCTCCGCCCTCTTTCTCCTGCTTGGCGCGAGCACAGGCACCGCGTGGTTCTCACAACCAGCAGCTCGGCTCACTGAGACCCGGTGGTCCAGACGCTGCTCCTGGCTGGGGTGGCGCTGCAGGGAGAACCGCGAGCTCTCAGGGGTCGGCGGGTGACTTCTTTCCGGAAGAAAGCGAGGAACGCGCTCTGCGGGGTGAGCCGGACTCCCCAACTCCGGACGATCAGCCCAGGACTGAGAGCCCCGAAGTCCCCAACCACAAGTAAGCGGCCCCAGAAGGACAAGTCTAGGTCGCCGTCCAGAGCGCCATGGCCGCGCCCGCCCTTCGTTTGTGCCACATCGCCTTCCACGTGCCCGCCGGGCAGCCCCTAGCCCGGAACCTGCAGCGCCTCTTCGGCTTCCAGCCCCTGGCTTCGCGGGAGGTGGACGGCTGGCGGCAGCTAGCCCTGCGCAGCGGCGACGCGGTCTTTTTGGTGAACGAGGGCGCAGGGTCTGGAGAGCCGCTGTACGGCCTGGATCCGCGTCACGCCGTGCCCAGCGCCACAAACCTGTGCTTCGACGTGGCGGACGCCGGCGCTGCAACCCGGGAGCTGGCAGCGCTGGGCTGCAGCGTGCCTGTCCCTCCCGTTCGCGTGCGGGACGCGCAGGGTGCCGCCACTTACGCCGTGGTCAGCTCGCCTGCCGGCATCCTCAGCCTGACCTTGCTGGAGCGCGCTGGCTACCGCGGACCCTTCCTACCCGGCTTCAGGCCCGTGTCCTCTGCGCCTGGCCCCGGGTGGGTCAGCCGCGTGGACCACCTGACCTTGGCCTGCACCCCCGGCAGCTCCCCCACACTTTTGCGCTGGTTCCACGACTGCCTGGGCTTTTGCCACTTGCCGCTGAGCCCAGGTGAGGATCCCGAGCTGGGCCTCGAAATGACAGCAGGGTTTGGGCTTGGGGGACTGAGGCTTACAGCCCTGCAGGCCCAGCCGGGCAGCATTGTCCCCACTCTTGTTCTGGCTGAGTCCCTTCCGGGGGCGACGACACGACAGGACCAGGTGGAGCAGTTCCTGGCCCGGCACAAGGGGCCAGGCCTGCAGCACGTGGGGCTGTATACGCCTAACATTGTGGAGGCCACTGAGGGGGTGGCAACTGCTGGAGGCCAGTTCCTGGCTCCCCCTGGGGCATACTACCAGCAGCCAGGAAAGGAGAGGCAGATCCGAGCTGCAGGGCACGAGCCTCATCTGCTTGCTCGACAGGGGATCCTGCTAGATGGTGATAAAGGCAAGTTTCTGCTTCAGGTCTTCACCAAGTCCCTTTTTACTGAGGACACTTTCTTCCTGGAGCTGATTCAGAGGCAGGGGGCCACTGGCTTTGGTCAGGGCAACATCAGAGCTCTGTGGCAGTCCGTACAGGAGCAATCTGCCAGGAGCCAGGAAGCCTAAGGATGCCCAGGGCTGGGTGCAGCCAGCTGTCCTGCAGCTCTGGGGAGACCAGCACAGAACTGAGGAACATCTGCAGGAGGCCCAACTAGTGAAAGGCTTTGCCTCCGGGGGGCAGGTGTGACTTCCATTTCATCAGTGCCTGCCAGAAGCTGTGTCTCTCATTGGGCTCCAAAGAGGTGGGATTTTTTAAAACTAAAACATTTCTTATATACAGTCTATAATAAATATGTAAGATACAAAGAACAATAAAAGAATTACACACTAGGAAATAGAACATAACCAATACTTTCGAGTCCTCCCTGTGTCCCGCTGTGATTCTATTTCCTCCCACCCACTCCTCAAATCCTGTCATTATTAGCCCTTTGCTTTTCTGTATTGTTTCACTCCGTATGTAACATAACCCTAAATAAATTATTTCGTATTTGAGGTAGGAATTTAAAACAGAACAAATCTTCTCCTGTGCTTCCTCTCCCCCTAGGGAGCGACCACTCAGGTGGGGAGGGGCTGGGTGAGAGTTGAGCCCAACTACCTACTCCAGAGTGATGCCACCACTCCAATTAGAGCTGACCTGAGACGTAAACAGAGGGTGTTGTGTGTCAGCCACTGGCAGGTTCTCCCTGTAGCTGCCTTGCCTTTCTCCTGGGGGTTGGAGGGCAGATCAGTCTGGACAGAACACCCCCACTCCAACCCCATCTGCCCGGGGCTGGCTGGGAGTTCAGCCAGAGAAAGTCAGAACCAAGCAGAACGTCACCACTTTTCTGGGTCCCTCCCTCAGATATAAGGGGTGAGGGGGCTAGGGAGAGGGTGGAAGGCTGTCCAAAATAGCTACAAAAGGGCGGGCGTGGTGGCTCATGCCTGTAATCCAAGCACTTTAGGAGGCTGAAGTGGGAGAATCACTTGAGGCCAGAATCACCTGAGTTCGAAACCAGTCTGAGCAACATAGCGAGACCCCCATCTCAAAAAAATACAACATAAAATAACTACAAAAATAAGCACTTTACTAACAACAGGATTCTCAGGGAATGGGGGCTTTCAGAGGTGTCACTGGGCTGCACTGTTGAGGCTGTGTGCATCAGTGGAGATGTGAGACCGAAAGAAATTATCCAGGACTTGCTGGCCCATGCGGGGCTTTTTCCGACTGCACGGAGAGGACACCTGGGACCTTTTGGAACCCTGTGAAAAAATGGAAGGAGGGAGGCCTTGTAGTTGGGGGAGGGGGAGCAGAGAATCCTCTCCTTGTCCTCTCTCCCTTTCCCCGACTCTACTGATCTAGCTAGGCTTAGCCTGGAATGCTGTAGAGCTTTCATCCTGCCTCAAGTATCTGCCCCATCAATCAACCCTCCAAAAGGCTGCCTGAGGGAATCGAATTGTCCTAAAAATGCAAATCTGACTCCTCTCTCCTCCACCTAAAATGAGTCAGCAGCCTAGGGCTCACACCCTGACTGACCCAGCAGGCCC
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TACTGCCCTCCTGCCTGCAGGCCTGAACACCATGACATCCAGCTAGCCCCTGTCCCCTATGACATCCTTCTCCCTCTTGCCAATGAAACCCAGTAGATCAGGCTGCCTGACAAAAAAATTTCTTGTGATGCCTTGGACTGTGGCATTCATCCTAAATGCCTCCCTAACAGCATGGCCCATTGCTCCTCTAAGAGTCTGGCTCACACTCTTACTGAGTTTTTGCTTATGCCCTTTGCCCTTCTTGGATGCCCTTCCCTAACCCTTCAAGGGCCACTCAGTTGAAGTTCCAGAAGACTACAAATTCCTCAATCCAGTCATCTCACACAATTCTGGGTTTCAGAGCCAGAAGTGCCCCCACCACAGAAATCTCTGGCTCAATGCCAAGTCAGGAAGCTGCAAAGAGCAAGGAGGGCCTGTGTTCCAGTCCTCAAAGGATGGGGAAGGGGAATGACAGCCAGGCAGCTGTTCCTTTCAGATCCCGAACCGTCAGATTTTTCCTCCAAATCTTGCTTGGGACAAGGGGTTAAATGATGTTGACAGAAGGGTGATTGAAGAAAGAGACAGGACTGGTTGAGAGATTGCCCAACACTTTGGGAGGCTGAGGTGGAAAGATGGCTTGAGCCCAGGGGTTTAAAACCAGCTTGGGCAATATAGCAAGACCCCATTTCTAAAAAAAAAAATTATTTTTAATTAGCTGGGTGTGGTGGCGTCCGCCTGTGGTCCCAGCTATTTGTGCACTGAGGCAAGGAAAATCGCCTGAACCCAGGAGGTGGAGGCTGCAGTGAGCTGTGATTGTGCCACTCCAGCCTGGGTGACAGAGTGAGACCCTGTCTCAAAACATATAAACGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTATTCCAGGGAACATTAAGACTTAGAGGCAAACTCCAGAACTTAAAGAAAAAACATGAAAGTGCTAAAAAATTCCGTGCTTGTGGAGAGAGAATTCCAACTCTTTCCCTGAACCCGGGCTGAGTCCCTTCGCTGTGAGGTTGGGGGGATGAGTGGGAGCCCAGTGCCTGGCGCCGAGTGAAGGCAGCCATTGTGAGTTCCTGGGCTGGGGAAGGGAGGCTCAGTGCCCAAGGATGTGACCAGGCGTGAGGCCCGGGGAAAGAGCAGCGCGGCGACCCCGCAGTATCCGAGGCGACAGGGTGTGGGGGAGGGGGTGGGGAGTCAAAGGCGGAGTCACGGGCTCCGCCCTCTTTCTCCTGCTTGGCGCGAGCACAGGCACCGCGTGGTTCTCACAACCAGCAGCTCGGCTCACTGAGACCCGGTGGTCCAGACGCTGCTCCTGGCTGGGGTGGCGCTGCAGGGAGAACCGCGAGCTCTCAGGGGTCGGCGGGTGACTTCTTTCCGGAAGAAAGCGAGGAACGCGCTCTGCGGGGTGAGCCGGACTCCCCAACTCCGGACGATCAGCCCAGGACTGAGAGCCCCGAAGTCCCCAACCACAAGTAAGCGGCCCCAGAAGGACAAGTCTAGGTCGCCGTCCAGAGCGCCATGGCCGCGCCCGCCCTTCGTTTGTGCCACATCGCCTTCCACGTGCCCGCCGGGCAGCCCCTAGCCCGGAACCTGCAGCGCCTCTTCGGCTTCCAGCCCCTGGCTTCGCGGGAGGTGGACGGCTGGCGGCAGCTAGCCCTGCGCAGCGGCGACGCGGTCTTTTTGGTGAACGAGGGCGCAGGGTCTGGAGAGCCGCTGTACGGCCTGGATCCGCGTCACGCCGTGCCCAGCGCCACAAACCTGTGCTTCGACGTGGCGGACGCCGGCGCTGCAACCCGGGAGCTGGCAGCGCTGGGCTGCAGCGTGCCTGTCCCTCCCGTTCGCGTGCGGGACGCGCAGGGTGCCGCCACTTACGCCGTGGTCAGCTCGCCTGCCGGCATCCTCAGCCTGACCTTGCTGGAGCGCGCTGGCTACCGCGGACCCTTCCTACCCGGCTTCAGGCCCGTGTCCTCTGCGCCTGGCCCCGGGTGGGTCAGCCGCGTGGACCACCTGACCTTGGCCTGCACCCCCGGCAGCTCCCCCACACCTTTGCGCTGGTTCCACGACTGCCTGGGCTTTTGCCACTTGCCGCTGAGCCCAGGTGAGGATCCCGAGCTGGGCCTCGAAATGACAGCAGGGTTTGGGCTTGGGGGACTGAGGCTTACAGCCCTGCAGGCCCAGCCGGGCAGCATTGTCCCCACTCTTGTTCTGGCTGAGTCCCTTCCGGGGGCGACGACACGACAGGACCAGGTGGAGCAGTTCCTGGCCCGGCACAAGGGGCCAGGCCTGCAGCACGTGGGGCTGTATACGCCTAACATTGTGGAGGCCACTGAGGGGGTGGCAACTGCTGGAGGCCAGTTCCTGGCTCCCCCTGGGGCATACTACCAGCAGCCAGGAAAGGAGAGGCAGATCCGAGCTGCAGGGCACGAGCCTCATCTGCTTGCTCGACAGGGGATCCTGCTAGATGGTGATAAAGGCAAGTTTCTGCTTCAGGTCTTCACCAAGTCCCTTTTTACTGAGGACACTTTCTTCCTGGAGCTGATTCAGAGGCAGGGGGCCACTGGCTTTGGTCAGGGCAACATCAGAGCTCTGTGGCAGTCCGTACAGGAGCAATCTGCCAGGAGCCAGGAAGCCTAAGGATGCCCAGGGCTGGGTGCAGCCAGCTGTCCTGCAGCTCTGGGGAGACCAGCACAGAACTGAGGAACATCTGCAGGAGGCCCAACTAGTGAAAGGCTTTGCCTCCGGGGGGCAGGTGTGACTTCCATTTCATCAGTGCCTGCCAGAAGCTGTGTCTCTCATTGGGCTCCAAAGAGGTGGGATTTTTTAAAACTAAAACATTTCTTATATACAGTCTATAATAAATATGTAAGATACAAAGAACAATAAAAGAATTACACACTAGGAAATAGAACATAACCAATACTTTCGAGTCCTCCCTGTGTCCCGCTGTGATTCTATTTCCTCCCACCCACTCCTCAAATCCTGTCATTATTAGCCCTTTGCTTTTCTGTATTGTTTCACTCCGTATGTAACATAACCCTAAATAAATTATTTCGTATTTGAGGTAGGAATTTAAAACAGAACAAATCTTCTCCTGTGCTTCCTCTCCCCCTAGGGAGCGACCACTCAGGTGGGGAGGGGCTGGGTGAGAGTTGAGCCCAACTACCTACTCCAGAGTGATGCCACCACTCCAATTAGAGCTGACCTGAGACGTAAACAGAGGGTGTTGTGTGTCAGCCACTGGCAGGTTCTCCCTGTAGCTGCCTTGCCTTTCTCCTGGGGGTTGGAGGGCAGATCAGTCTGGACAGAACACCCCCACTCCAACCCCATCTGCCCGGGGCTGGCTGGGAGTTCAGCCAGAGAAAGTCAGAACCAAGCAGAACGTCACCACTTTTCTGGGTCCCTCCCTCAGATATAAGGGGTGAGGGGGCTAGGGAGAGGGTGGAAGGCTGTCCAAAATAGCTACAAAAGGGCGGGCGTGGTGGCTCATGCCTGTAATCCAAGCACTTTAGGAGGCTGAAGTGGGAGAATCACTTGAGGCCAGAATCACCTGAGTTCGAAACCAGTCTGAGCAACATAGCGAGACCCCCATCTCAAAAAAATACAACATAAAATAACTACAAAAATAAGCACTTTACTAACAACAGGATTCTCAGGGAATGGGGGCTTTCAGAGGTGTCACTGGGCTGCACTGTTGAGGCTGTGTGCATCAGTGGAGATGTGAGACCGAAAGAAATTATCCAGGACTTGCTGGCCCATGCGGGGCTTTTTCCGACTGCACGGAGAGGACACCTGGGACCTTTTGGAACCCTGTGAAAAAATGGAAGGAGGGAGGCCTTGTAGTTGGGGGAGGGGGAGCAGAGAATCCTCTCCTTGTCCTCTCTCCCTTTCCCCGACTCTACTGATCTAGCTAGGCTTAGCCTGGAATGCTGTAGAGCTTTCATCCTGCCTCAAGTATCTGCCCCATCAATCAACCCTCCAAAAGGCTGCCTGAGGGAATCGAATTGTCCTAAAAATGCAAATCTGACTCCTCTCTCCTCCACCTAAAATGAGTCAGCAGCCTAGGGCTCACACCCTGACTGACCCAGCAGGCCC
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Task1_train_848
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A mutation in HPDL (4-hydroxyphenylpyruvate dioxygenase like), located on Chromosome 1, is being studied. Determine whether it’s pathogenic or benign, and specify the linked disease.
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Pathogenic; Neurodevelopmental disorder with progressive spasticity and brain white matter abnormalities
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CTGCCTGCAGGCCTGAACACCATGACATCCAGCTAGCCCCTGTCCCCTATGACATCCTTCTCCCTCTTGCCAATGAAACCCAGTAGATCAGGCTGCCTGACAAAAAAATTTCTTGTGATGCCTTGGACTGTGGCATTCATCCTAAATGCCTCCCTAACAGCATGGCCCATTGCTCCTCTAAGAGTCTGGCTCACACTCTTACTGAGTTTTTGCTTATGCCCTTTGCCCTTCTTGGATGCCCTTCCCTAACCCTTCAAGGGCCACTCAGTTGAAGTTCCAGAAGACTACAAATTCCTCAATCCAGTCATCTCACACAATTCTGGGTTTCAGAGCCAGAAGTGCCCCCACCACAGAAATCTCTGGCTCAATGCCAAGTCAGGAAGCTGCAAAGAGCAAGGAGGGCCTGTGTTCCAGTCCTCAAAGGATGGGGAAGGGGAATGACAGCCAGGCAGCTGTTCCTTTCAGATCCCGAACCGTCAGATTTTTCCTCCAAATCTTGCTTGGGACAAGGGGTTAAATGATGTTGACAGAAGGGTGATTGAAGAAAGAGACAGGACTGGTTGAGAGATTGCCCAACACTTTGGGAGGCTGAGGTGGAAAGATGGCTTGAGCCCAGGGGTTTAAAACCAGCTTGGGCAATATAGCAAGACCCCATTTCTAAAAAAAAAAATTATTTTTAATTAGCTGGGTGTGGTGGCGTCCGCCTGTGGTCCCAGCTATTTGTGCACTGAGGCAAGGAAAATCGCCTGAACCCAGGAGGTGGAGGCTGCAGTGAGCTGTGATTGTGCCACTCCAGCCTGGGTGACAGAGTGAGACCCTGTCTCAAAACATATAAACGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTATTCCAGGGAACATTAAGACTTAGAGGCAAACTCCAGAACTTAAAGAAAAAACATGAAAGTGCTAAAAAATTCCGTGCTTGTGGAGAGAGAATTCCAACTCTTTCCCTGAACCCGGGCTGAGTCCCTTCGCTGTGAGGTTGGGGGGATGAGTGGGAGCCCAGTGCCTGGCGCCGAGTGAAGGCAGCCATTGTGAGTTCCTGGGCTGGGGAAGGGAGGCTCAGTGCCCAAGGATGTGACCAGGCGTGAGGCCCGGGGAAAGAGCAGCGCGGCGACCCCGCAGTATCCGAGGCGACAGGGTGTGGGGGAGGGGGTGGGGAGTCAAAGGCGGAGTCACGGGCTCCGCCCTCTTTCTCCTGCTTGGCGCGAGCACAGGCACCGCGTGGTTCTCACAACCAGCAGCTCGGCTCACTGAGACCCGGTGGTCCAGACGCTGCTCCTGGCTGGGGTGGCGCTGCAGGGAGAACCGCGAGCTCTCAGGGGTCGGCGGGTGACTTCTTTCCGGAAGAAAGCGAGGAACGCGCTCTGCGGGGTGAGCCGGACTCCCCAACTCCGGACGATCAGCCCAGGACTGAGAGCCCCGAAGTCCCCAACCACAAGTAAGCGGCCCCAGAAGGACAAGTCTAGGTCGCCGTCCAGAGCGCCATGGCCGCGCCCGCCCTTCGTTTGTGCCACATCGCCTTCCACGTGCCCGCCGGGCAGCCCCTAGCCCGGAACCTGCAGCGCCTCTTCGGCTTCCAGCCCCTGGCTTCGCGGGAGGTGGACGGCTGGCGGCAGCTAGCCCTGCGCAGCGGCGACGCGGTCTTTTTGGTGAACGAGGGCGCAGGGTCTGGAGAGCCGCTGTACGGCCTGGATCCGCGTCACGCCGTGCCCAGCGCCACAAACCTGTGCTTCGACGTGGCGGACGCCGGCGCTGCAACCCGGGAGCTGGCAGCGCTGGGCTGCAGCGTGCCTGTCCCTCCCGTTCGCGTGCGGGACGCGCAGGGTGCCGCCACTTACGCCGTGGTCAGCTCGCCTGCCGGCATCCTCAGCCTGACCTTGCTGGAGCGCGCTGGCTACCGCGGACCCTTCCTACCCGGCTTCAGGCCCGTGTCCTCTGCGCCTGGCCCCGGGTGGGTCAGCCGCGTGGACCACCTGACCTTGGCCTGCACCCCCGGCAGCTCCCCCACACTTTTGCGCTGGTTCCACGACTGCCTGGGCTTTTGCCACTTGCCGCTGAGCCCAGGTGAGGATCCCGAGCTGGGCCTCGAAATGACAGCAGGGTTTGGGCTTGGGGGACTGAGGCTTACAGCCCTGCAGGCCCAGCCGGGCAGCATTGTCCCCACTCTTGTTCTGGCTGAGTCCCTTCCGGGGGCGACGACACGACAGGACCAGGTGGAGCAGTTCCTGGCCCGGCACAAGGGGCCAGGCCTGCAGCACGTGGGGCTGTATACGCCTAACATTGTGGAGGCCACTGAGGGGGTGGCAACTGCTGGAGGCCAGTTCCTGGCTCCCCCTGGGGCATACTACCAGCAGCCAGGAAAGGAGAGGCAGATCCGAGCTGCAGGGCACGAGCCTCATCTGCTTGCTCGACAGGGGATCCTGCTAGATGGTGATAAAGGCAAGTTTCTGCTTCAGGTCTTCACCAAGTCCCTTTTTACTGAGGACACTTTCTTCCTGGAGCTGATTCAGAGGCAGGGGGCCACTGGCTTTGGTCAGGGCAACATCAGAGCTCTGTGGCAGTCCGTACAGGAGCAATCTGCCAGGAGCCAGGAAGCCTAAGGATGCCCAGGGCTGGGTGCAGCCAGCTGTCCTGCAGCTCTGGGGAGACCAGCACAGAACTGAGGAACATCTGCAGGAGGCCCAACTAGTGAAAGGCTTTGCCTCCGGGGGGCAGGTGTGACTTCCATTTCATCAGTGCCTGCCAGAAGCTGTGTCTCTCATTGGGCTCCAAAGAGGTGGGATTTTTTAAAACTAAAACATTTCTTATATACAGTCTATAATAAATATGTAAGATACAAAGAACAATAAAAGAATTACACACTAGGAAATAGAACATAACCAATACTTTCGAGTCCTCCCTGTGTCCCGCTGTGATTCTATTTCCTCCCACCCACTCCTCAAATCCTGTCATTATTAGCCCTTTGCTTTTCTGTATTGTTTCACTCCGTATGTAACATAACCCTAAATAAATTATTTCGTATTTGAGGTAGGAATTTAAAACAGAACAAATCTTCTCCTGTGCTTCCTCTCCCCCTAGGGAGCGACCACTCAGGTGGGGAGGGGCTGGGTGAGAGTTGAGCCCAACTACCTACTCCAGAGTGATGCCACCACTCCAATTAGAGCTGACCTGAGACGTAAACAGAGGGTGTTGTGTGTCAGCCACTGGCAGGTTCTCCCTGTAGCTGCCTTGCCTTTCTCCTGGGGGTTGGAGGGCAGATCAGTCTGGACAGAACACCCCCACTCCAACCCCATCTGCCCGGGGCTGGCTGGGAGTTCAGCCAGAGAAAGTCAGAACCAAGCAGAACGTCACCACTTTTCTGGGTCCCTCCCTCAGATATAAGGGGTGAGGGGGCTAGGGAGAGGGTGGAAGGCTGTCCAAAATAGCTACAAAAGGGCGGGCGTGGTGGCTCATGCCTGTAATCCAAGCACTTTAGGAGGCTGAAGTGGGAGAATCACTTGAGGCCAGAATCACCTGAGTTCGAAACCAGTCTGAGCAACATAGCGAGACCCCCATCTCAAAAAAATACAACATAAAATAACTACAAAAATAAGCACTTTACTAACAACAGGATTCTCAGGGAATGGGGGCTTTCAGAGGTGTCACTGGGCTGCACTGTTGAGGCTGTGTGCATCAGTGGAGATGTGAGACCGAAAGAAATTATCCAGGACTTGCTGGCCCATGCGGGGCTTTTTCCGACTGCACGGAGAGGACACCTGGGACCTTTTGGAACCCTGTGAAAAAATGGAAGGAGGGAGGCCTTGTAGTTGGGGGAGGGGGAGCAGAGAATCCTCTCCTTGTCCTCTCTCCCTTTCCCCGACTCTACTGATCTAGCTAGGCTTAGCCTGGAATGCTGTAGAGCTTTCATCCTGCCTCAAGTATCTGCCCCATCAATCAACCCTCCAAAAGGCTGCCTGAGGGAATCGAATTGTCCTAAAAATGCAAATCTGACTCCTCTCTCCTCCACCTAAAATGAGTCAGCAGCCTAGGGCTCACACCCTGACTGACCCAGCAGGCCCTGCTGACCTT
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CTGCCTGCAGGCCTGAACACCATGACATCCAGCTAGCCCCTGTCCCCTATGACATCCTTCTCCCTCTTGCCAATGAAACCCAGTAGATCAGGCTGCCTGACAAAAAAATTTCTTGTGATGCCTTGGACTGTGGCATTCATCCTAAATGCCTCCCTAACAGCATGGCCCATTGCTCCTCTAAGAGTCTGGCTCACACTCTTACTGAGTTTTTGCTTATGCCCTTTGCCCTTCTTGGATGCCCTTCCCTAACCCTTCAAGGGCCACTCAGTTGAAGTTCCAGAAGACTACAAATTCCTCAATCCAGTCATCTCACACAATTCTGGGTTTCAGAGCCAGAAGTGCCCCCACCACAGAAATCTCTGGCTCAATGCCAAGTCAGGAAGCTGCAAAGAGCAAGGAGGGCCTGTGTTCCAGTCCTCAAAGGATGGGGAAGGGGAATGACAGCCAGGCAGCTGTTCCTTTCAGATCCCGAACCGTCAGATTTTTCCTCCAAATCTTGCTTGGGACAAGGGGTTAAATGATGTTGACAGAAGGGTGATTGAAGAAAGAGACAGGACTGGTTGAGAGATTGCCCAACACTTTGGGAGGCTGAGGTGGAAAGATGGCTTGAGCCCAGGGGTTTAAAACCAGCTTGGGCAATATAGCAAGACCCCATTTCTAAAAAAAAAAATTATTTTTAATTAGCTGGGTGTGGTGGCGTCCGCCTGTGGTCCCAGCTATTTGTGCACTGAGGCAAGGAAAATCGCCTGAACCCAGGAGGTGGAGGCTGCAGTGAGCTGTGATTGTGCCACTCCAGCCTGGGTGACAGAGTGAGACCCTGTCTCAAAACATATAAACGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTATTCCAGGGAACATTAAGACTTAGAGGCAAACTCCAGAACTTAAAGAAAAAACATGAAAGTGCTAAAAAATTCCGTGCTTGTGGAGAGAGAATTCCAACTCTTTCCCTGAACCCGGGCTGAGTCCCTTCGCTGTGAGGTTGGGGGGATGAGTGGGAGCCCAGTGCCTGGCGCCGAGTGAAGGCAGCCATTGTGAGTTCCTGGGCTGGGGAAGGGAGGCTCAGTGCCCAAGGATGTGACCAGGCGTGAGGCCCGGGGAAAGAGCAGCGCGGCGACCCCGCAGTATCCGAGGCGACAGGGTGTGGGGGAGGGGGTGGGGAGTCAAAGGCGGAGTCACGGGCTCCGCCCTCTTTCTCCTGCTTGGCGCGAGCACAGGCACCGCGTGGTTCTCACAACCAGCAGCTCGGCTCACTGAGACCCGGTGGTCCAGACGCTGCTCCTGGCTGGGGTGGCGCTGCAGGGAGAACCGCGAGCTCTCAGGGGTCGGCGGGTGACTTCTTTCCGGAAGAAAGCGAGGAACGCGCTCTGCGGGGTGAGCCGGACTCCCCAACTCCGGACGATCAGCCCAGGACTGAGAGCCCCGAAGTCCCCAACCACAAGTAAGCGGCCCCAGAAGGACAAGTCTAGGTCGCCGTCCAGAGCGCCATGGCCGCGCCCGCCCTTCGTTTGTGCCACATCGCCTTCCACGTGCCCGCCGGGCAGCCCCTAGCCCGGAACCTGCAGCGCCTCTTCGGCTTCCAGCCCCTGGCTTCGCGGGAGGTGGACGGCTGGCGGCAGCTAGCCCTGCGCAGCGGCGACGCGGTCTTTTTGGTGAACGAGGGCGCAGGGTCTGGAGAGCCGCTGTACGGCCTGGATCCGCGTCACGCCGTGCCCAGCGCCACAAACCTGTGCTTCGACGTGGCGGACGCCGGCGCTGCAACCCGGGAGCTGGCAGCGCTGGGCTGCAGCGTGCCTGTCCCTCCCGTTCGCGTGCGGGACGCGCAGGGTGCCGCCACTTACGCCGTGGTCAGCTCGCCTGCCGGCATCCTCAGCCTGACCTTGCTGGAGCGCGCTGGCTACCGCGGACCCTTCCTACCCGGCTTCAGGCCCGTGTCCTCTGCGCCTGGCCCCGGGTGGGTCAGCCGCGTGGACCACCTGACCTTGGCCTGCACCCCCGGCAGCTCCCCCACACTTTTGCGCTGCTTCCACGACTGCCTGGGCTTTTGCCACTTGCCGCTGAGCCCAGGTGAGGATCCCGAGCTGGGCCTCGAAATGACAGCAGGGTTTGGGCTTGGGGGACTGAGGCTTACAGCCCTGCAGGCCCAGCCGGGCAGCATTGTCCCCACTCTTGTTCTGGCTGAGTCCCTTCCGGGGGCGACGACACGACAGGACCAGGTGGAGCAGTTCCTGGCCCGGCACAAGGGGCCAGGCCTGCAGCACGTGGGGCTGTATACGCCTAACATTGTGGAGGCCACTGAGGGGGTGGCAACTGCTGGAGGCCAGTTCCTGGCTCCCCCTGGGGCATACTACCAGCAGCCAGGAAAGGAGAGGCAGATCCGAGCTGCAGGGCACGAGCCTCATCTGCTTGCTCGACAGGGGATCCTGCTAGATGGTGATAAAGGCAAGTTTCTGCTTCAGGTCTTCACCAAGTCCCTTTTTACTGAGGACACTTTCTTCCTGGAGCTGATTCAGAGGCAGGGGGCCACTGGCTTTGGTCAGGGCAACATCAGAGCTCTGTGGCAGTCCGTACAGGAGCAATCTGCCAGGAGCCAGGAAGCCTAAGGATGCCCAGGGCTGGGTGCAGCCAGCTGTCCTGCAGCTCTGGGGAGACCAGCACAGAACTGAGGAACATCTGCAGGAGGCCCAACTAGTGAAAGGCTTTGCCTCCGGGGGGCAGGTGTGACTTCCATTTCATCAGTGCCTGCCAGAAGCTGTGTCTCTCATTGGGCTCCAAAGAGGTGGGATTTTTTAAAACTAAAACATTTCTTATATACAGTCTATAATAAATATGTAAGATACAAAGAACAATAAAAGAATTACACACTAGGAAATAGAACATAACCAATACTTTCGAGTCCTCCCTGTGTCCCGCTGTGATTCTATTTCCTCCCACCCACTCCTCAAATCCTGTCATTATTAGCCCTTTGCTTTTCTGTATTGTTTCACTCCGTATGTAACATAACCCTAAATAAATTATTTCGTATTTGAGGTAGGAATTTAAAACAGAACAAATCTTCTCCTGTGCTTCCTCTCCCCCTAGGGAGCGACCACTCAGGTGGGGAGGGGCTGGGTGAGAGTTGAGCCCAACTACCTACTCCAGAGTGATGCCACCACTCCAATTAGAGCTGACCTGAGACGTAAACAGAGGGTGTTGTGTGTCAGCCACTGGCAGGTTCTCCCTGTAGCTGCCTTGCCTTTCTCCTGGGGGTTGGAGGGCAGATCAGTCTGGACAGAACACCCCCACTCCAACCCCATCTGCCCGGGGCTGGCTGGGAGTTCAGCCAGAGAAAGTCAGAACCAAGCAGAACGTCACCACTTTTCTGGGTCCCTCCCTCAGATATAAGGGGTGAGGGGGCTAGGGAGAGGGTGGAAGGCTGTCCAAAATAGCTACAAAAGGGCGGGCGTGGTGGCTCATGCCTGTAATCCAAGCACTTTAGGAGGCTGAAGTGGGAGAATCACTTGAGGCCAGAATCACCTGAGTTCGAAACCAGTCTGAGCAACATAGCGAGACCCCCATCTCAAAAAAATACAACATAAAATAACTACAAAAATAAGCACTTTACTAACAACAGGATTCTCAGGGAATGGGGGCTTTCAGAGGTGTCACTGGGCTGCACTGTTGAGGCTGTGTGCATCAGTGGAGATGTGAGACCGAAAGAAATTATCCAGGACTTGCTGGCCCATGCGGGGCTTTTTCCGACTGCACGGAGAGGACACCTGGGACCTTTTGGAACCCTGTGAAAAAATGGAAGGAGGGAGGCCTTGTAGTTGGGGGAGGGGGAGCAGAGAATCCTCTCCTTGTCCTCTCTCCCTTTCCCCGACTCTACTGATCTAGCTAGGCTTAGCCTGGAATGCTGTAGAGCTTTCATCCTGCCTCAAGTATCTGCCCCATCAATCAACCCTCCAAAAGGCTGCCTGAGGGAATCGAATTGTCCTAAAAATGCAAATCTGACTCCTCTCTCCTCCACCTAAAATGAGTCAGCAGCCTAGGGCTCACACCCTGACTGACCCAGCAGGCCCTGCTGACCTT
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Task1_train_849
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This sequence variant lies in HPDL (4-hydroxyphenylpyruvate dioxygenase like) on Chromosome 1. Is it clinically significant, and what condition might it cause if any?
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Pathogenic; not provided
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TGCCCTTTGCCCTTCTTGGATGCCCTTCCCTAACCCTTCAAGGGCCACTCAGTTGAAGTTCCAGAAGACTACAAATTCCTCAATCCAGTCATCTCACACAATTCTGGGTTTCAGAGCCAGAAGTGCCCCCACCACAGAAATCTCTGGCTCAATGCCAAGTCAGGAAGCTGCAAAGAGCAAGGAGGGCCTGTGTTCCAGTCCTCAAAGGATGGGGAAGGGGAATGACAGCCAGGCAGCTGTTCCTTTCAGATCCCGAACCGTCAGATTTTTCCTCCAAATCTTGCTTGGGACAAGGGGTTAAATGATGTTGACAGAAGGGTGATTGAAGAAAGAGACAGGACTGGTTGAGAGATTGCCCAACACTTTGGGAGGCTGAGGTGGAAAGATGGCTTGAGCCCAGGGGTTTAAAACCAGCTTGGGCAATATAGCAAGACCCCATTTCTAAAAAAAAAAATTATTTTTAATTAGCTGGGTGTGGTGGCGTCCGCCTGTGGTCCCAGCTATTTGTGCACTGAGGCAAGGAAAATCGCCTGAACCCAGGAGGTGGAGGCTGCAGTGAGCTGTGATTGTGCCACTCCAGCCTGGGTGACAGAGTGAGACCCTGTCTCAAAACATATAAACGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTATTCCAGGGAACATTAAGACTTAGAGGCAAACTCCAGAACTTAAAGAAAAAACATGAAAGTGCTAAAAAATTCCGTGCTTGTGGAGAGAGAATTCCAACTCTTTCCCTGAACCCGGGCTGAGTCCCTTCGCTGTGAGGTTGGGGGGATGAGTGGGAGCCCAGTGCCTGGCGCCGAGTGAAGGCAGCCATTGTGAGTTCCTGGGCTGGGGAAGGGAGGCTCAGTGCCCAAGGATGTGACCAGGCGTGAGGCCCGGGGAAAGAGCAGCGCGGCGACCCCGCAGTATCCGAGGCGACAGGGTGTGGGGGAGGGGGTGGGGAGTCAAAGGCGGAGTCACGGGCTCCGCCCTCTTTCTCCTGCTTGGCGCGAGCACAGGCACCGCGTGGTTCTCACAACCAGCAGCTCGGCTCACTGAGACCCGGTGGTCCAGACGCTGCTCCTGGCTGGGGTGGCGCTGCAGGGAGAACCGCGAGCTCTCAGGGGTCGGCGGGTGACTTCTTTCCGGAAGAAAGCGAGGAACGCGCTCTGCGGGGTGAGCCGGACTCCCCAACTCCGGACGATCAGCCCAGGACTGAGAGCCCCGAAGTCCCCAACCACAAGTAAGCGGCCCCAGAAGGACAAGTCTAGGTCGCCGTCCAGAGCGCCATGGCCGCGCCCGCCCTTCGTTTGTGCCACATCGCCTTCCACGTGCCCGCCGGGCAGCCCCTAGCCCGGAACCTGCAGCGCCTCTTCGGCTTCCAGCCCCTGGCTTCGCGGGAGGTGGACGGCTGGCGGCAGCTAGCCCTGCGCAGCGGCGACGCGGTCTTTTTGGTGAACGAGGGCGCAGGGTCTGGAGAGCCGCTGTACGGCCTGGATCCGCGTCACGCCGTGCCCAGCGCCACAAACCTGTGCTTCGACGTGGCGGACGCCGGCGCTGCAACCCGGGAGCTGGCAGCGCTGGGCTGCAGCGTGCCTGTCCCTCCCGTTCGCGTGCGGGACGCGCAGGGTGCCGCCACTTACGCCGTGGTCAGCTCGCCTGCCGGCATCCTCAGCCTGACCTTGCTGGAGCGCGCTGGCTACCGCGGACCCTTCCTACCCGGCTTCAGGCCCGTGTCCTCTGCGCCTGGCCCCGGGTGGGTCAGCCGCGTGGACCACCTGACCTTGGCCTGCACCCCCGGCAGCTCCCCCACACTTTTGCGCTGGTTCCACGACTGCCTGGGCTTTTGCCACTTGCCGCTGAGCCCAGGTGAGGATCCCGAGCTGGGCCTCGAAATGACAGCAGGGTTTGGGCTTGGGGGACTGAGGCTTACAGCCCTGCAGGCCCAGCCGGGCAGCATTGTCCCCACTCTTGTTCTGGCTGAGTCCCTTCCGGGGGCGACGACACGACAGGACCAGGTGGAGCAGTTCCTGGCCCGGCACAAGGGGCCAGGCCTGCAGCACGTGGGGCTGTATACGCCTAACATTGTGGAGGCCACTGAGGGGGTGGCAACTGCTGGAGGCCAGTTCCTGGCTCCCCCTGGGGCATACTACCAGCAGCCAGGAAAGGAGAGGCAGATCCGAGCTGCAGGGCACGAGCCTCATCTGCTTGCTCGACAGGGGATCCTGCTAGATGGTGATAAAGGCAAGTTTCTGCTTCAGGTCTTCACCAAGTCCCTTTTTACTGAGGACACTTTCTTCCTGGAGCTGATTCAGAGGCAGGGGGCCACTGGCTTTGGTCAGGGCAACATCAGAGCTCTGTGGCAGTCCGTACAGGAGCAATCTGCCAGGAGCCAGGAAGCCTAAGGATGCCCAGGGCTGGGTGCAGCCAGCTGTCCTGCAGCTCTGGGGAGACCAGCACAGAACTGAGGAACATCTGCAGGAGGCCCAACTAGTGAAAGGCTTTGCCTCCGGGGGGCAGGTGTGACTTCCATTTCATCAGTGCCTGCCAGAAGCTGTGTCTCTCATTGGGCTCCAAAGAGGTGGGATTTTTTAAAACTAAAACATTTCTTATATACAGTCTATAATAAATATGTAAGATACAAAGAACAATAAAAGAATTACACACTAGGAAATAGAACATAACCAATACTTTCGAGTCCTCCCTGTGTCCCGCTGTGATTCTATTTCCTCCCACCCACTCCTCAAATCCTGTCATTATTAGCCCTTTGCTTTTCTGTATTGTTTCACTCCGTATGTAACATAACCCTAAATAAATTATTTCGTATTTGAGGTAGGAATTTAAAACAGAACAAATCTTCTCCTGTGCTTCCTCTCCCCCTAGGGAGCGACCACTCAGGTGGGGAGGGGCTGGGTGAGAGTTGAGCCCAACTACCTACTCCAGAGTGATGCCACCACTCCAATTAGAGCTGACCTGAGACGTAAACAGAGGGTGTTGTGTGTCAGCCACTGGCAGGTTCTCCCTGTAGCTGCCTTGCCTTTCTCCTGGGGGTTGGAGGGCAGATCAGTCTGGACAGAACACCCCCACTCCAACCCCATCTGCCCGGGGCTGGCTGGGAGTTCAGCCAGAGAAAGTCAGAACCAAGCAGAACGTCACCACTTTTCTGGGTCCCTCCCTCAGATATAAGGGGTGAGGGGGCTAGGGAGAGGGTGGAAGGCTGTCCAAAATAGCTACAAAAGGGCGGGCGTGGTGGCTCATGCCTGTAATCCAAGCACTTTAGGAGGCTGAAGTGGGAGAATCACTTGAGGCCAGAATCACCTGAGTTCGAAACCAGTCTGAGCAACATAGCGAGACCCCCATCTCAAAAAAATACAACATAAAATAACTACAAAAATAAGCACTTTACTAACAACAGGATTCTCAGGGAATGGGGGCTTTCAGAGGTGTCACTGGGCTGCACTGTTGAGGCTGTGTGCATCAGTGGAGATGTGAGACCGAAAGAAATTATCCAGGACTTGCTGGCCCATGCGGGGCTTTTTCCGACTGCACGGAGAGGACACCTGGGACCTTTTGGAACCCTGTGAAAAAATGGAAGGAGGGAGGCCTTGTAGTTGGGGGAGGGGGAGCAGAGAATCCTCTCCTTGTCCTCTCTCCCTTTCCCCGACTCTACTGATCTAGCTAGGCTTAGCCTGGAATGCTGTAGAGCTTTCATCCTGCCTCAAGTATCTGCCCCATCAATCAACCCTCCAAAAGGCTGCCTGAGGGAATCGAATTGTCCTAAAAATGCAAATCTGACTCCTCTCTCCTCCACCTAAAATGAGTCAGCAGCCTAGGGCTCACACCCTGACTGACCCAGCAGGCCCTGCTGACCTTTCCAGCTAAACCAACTGCTCACAGCTCCTTGAGCACTGCAGCCTGCACTGGGCTCCACCTTTGCTCACACTACTCTTGGGACTGGAAAGAACATCGCTACGGTTGATTCCCCTCCCAAACCTGAAGAAAAGGATTCATTTCTAGGACGAAGATTACCAGCTGCTTCCTCCAAACAGCCTTTCCTGATCCGTCTCCCAATTAGAACTGATAGCTCCC
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TGCCCTTTGCCCTTCTTGGATGCCCTTCCCTAACCCTTCAAGGGCCACTCAGTTGAAGTTCCAGAAGACTACAAATTCCTCAATCCAGTCATCTCACACAATTCTGGGTTTCAGAGCCAGAAGTGCCCCCACCACAGAAATCTCTGGCTCAATGCCAAGTCAGGAAGCTGCAAAGAGCAAGGAGGGCCTGTGTTCCAGTCCTCAAAGGATGGGGAAGGGGAATGACAGCCAGGCAGCTGTTCCTTTCAGATCCCGAACCGTCAGATTTTTCCTCCAAATCTTGCTTGGGACAAGGGGTTAAATGATGTTGACAGAAGGGTGATTGAAGAAAGAGACAGGACTGGTTGAGAGATTGCCCAACACTTTGGGAGGCTGAGGTGGAAAGATGGCTTGAGCCCAGGGGTTTAAAACCAGCTTGGGCAATATAGCAAGACCCCATTTCTAAAAAAAAAAATTATTTTTAATTAGCTGGGTGTGGTGGCGTCCGCCTGTGGTCCCAGCTATTTGTGCACTGAGGCAAGGAAAATCGCCTGAACCCAGGAGGTGGAGGCTGCAGTGAGCTGTGATTGTGCCACTCCAGCCTGGGTGACAGAGTGAGACCCTGTCTCAAAACATATAAACGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTATTCCAGGGAACATTAAGACTTAGAGGCAAACTCCAGAACTTAAAGAAAAAACATGAAAGTGCTAAAAAATTCCGTGCTTGTGGAGAGAGAATTCCAACTCTTTCCCTGAACCCGGGCTGAGTCCCTTCGCTGTGAGGTTGGGGGGATGAGTGGGAGCCCAGTGCCTGGCGCCGAGTGAAGGCAGCCATTGTGAGTTCCTGGGCTGGGGAAGGGAGGCTCAGTGCCCAAGGATGTGACCAGGCGTGAGGCCCGGGGAAAGAGCAGCGCGGCGACCCCGCAGTATCCGAGGCGACAGGGTGTGGGGGAGGGGGTGGGGAGTCAAAGGCGGAGTCACGGGCTCCGCCCTCTTTCTCCTGCTTGGCGCGAGCACAGGCACCGCGTGGTTCTCACAACCAGCAGCTCGGCTCACTGAGACCCGGTGGTCCAGACGCTGCTCCTGGCTGGGGTGGCGCTGCAGGGAGAACCGCGAGCTCTCAGGGGTCGGCGGGTGACTTCTTTCCGGAAGAAAGCGAGGAACGCGCTCTGCGGGGTGAGCCGGACTCCCCAACTCCGGACGATCAGCCCAGGACTGAGAGCCCCGAAGTCCCCAACCACAAGTAAGCGGCCCCAGAAGGACAAGTCTAGGTCGCCGTCCAGAGCGCCATGGCCGCGCCCGCCCTTCGTTTGTGCCACATCGCCTTCCACGTGCCCGCCGGGCAGCCCCTAGCCCGGAACCTGCAGCGCCTCTTCGGCTTCCAGCCCCTGGCTTCGCGGGAGGTGGACGGCTGGCGGCAGCTAGCCCTGCGCAGCGGCGACGCGGTCTTTTTGGTGAACGAGGGCGCAGGGTCTGGAGAGCCGCTGTACGGCCTGGATCCGCGTCACGCCGTGCCCAGCGCCACAAACCTGTGCTTCGACGTGGCGGACGCCGGCGCTGCAACCCGGGAGCTGGCAGCGCTGGGCTGCAGCGTGCCTGTCCCTCCCGTTCGCGTGCGGGACGCGCAGGGTGCCGCCACTTACGCCGTGGTCAGCTCGCCTGCCGGCATCCTCAGCCTGACCTTGCTGGAGCGCGCTGGCTACCGCGGACCCTTCCTACCCGGCTTCAGGCCCGTGTCCTCTGCGCCTGGCCCCGGGTGGGTCAGCCGCGTGGACCACCTGACCTTGGCCTGCACCCCCGGCAGCTCCCCCACACTTTTGCGCTGGTTCCACGACTGCCTGGGCTTTTGCCACTTGCCGCTGAGCCCAGGTGAGGATCCCGAGCTGGGCCTCGAAATGACAGCAGGGTTTGGGCTTGGGGGACTGAGGCTTACAGCCCTGCAGGCCCAGCCGGGCAGCATTGTCCCCACTCTTGTTCTGGCTGAGTCCCTTCCGGGGGCGACGACACGACAGGACCAGGTGGAGCAGTTCCTGGCCCGGCAAAAGGGGCCAGGCCTGCAGCACGTGGGGCTGTATACGCCTAACATTGTGGAGGCCACTGAGGGGGTGGCAACTGCTGGAGGCCAGTTCCTGGCTCCCCCTGGGGCATACTACCAGCAGCCAGGAAAGGAGAGGCAGATCCGAGCTGCAGGGCACGAGCCTCATCTGCTTGCTCGACAGGGGATCCTGCTAGATGGTGATAAAGGCAAGTTTCTGCTTCAGGTCTTCACCAAGTCCCTTTTTACTGAGGACACTTTCTTCCTGGAGCTGATTCAGAGGCAGGGGGCCACTGGCTTTGGTCAGGGCAACATCAGAGCTCTGTGGCAGTCCGTACAGGAGCAATCTGCCAGGAGCCAGGAAGCCTAAGGATGCCCAGGGCTGGGTGCAGCCAGCTGTCCTGCAGCTCTGGGGAGACCAGCACAGAACTGAGGAACATCTGCAGGAGGCCCAACTAGTGAAAGGCTTTGCCTCCGGGGGGCAGGTGTGACTTCCATTTCATCAGTGCCTGCCAGAAGCTGTGTCTCTCATTGGGCTCCAAAGAGGTGGGATTTTTTAAAACTAAAACATTTCTTATATACAGTCTATAATAAATATGTAAGATACAAAGAACAATAAAAGAATTACACACTAGGAAATAGAACATAACCAATACTTTCGAGTCCTCCCTGTGTCCCGCTGTGATTCTATTTCCTCCCACCCACTCCTCAAATCCTGTCATTATTAGCCCTTTGCTTTTCTGTATTGTTTCACTCCGTATGTAACATAACCCTAAATAAATTATTTCGTATTTGAGGTAGGAATTTAAAACAGAACAAATCTTCTCCTGTGCTTCCTCTCCCCCTAGGGAGCGACCACTCAGGTGGGGAGGGGCTGGGTGAGAGTTGAGCCCAACTACCTACTCCAGAGTGATGCCACCACTCCAATTAGAGCTGACCTGAGACGTAAACAGAGGGTGTTGTGTGTCAGCCACTGGCAGGTTCTCCCTGTAGCTGCCTTGCCTTTCTCCTGGGGGTTGGAGGGCAGATCAGTCTGGACAGAACACCCCCACTCCAACCCCATCTGCCCGGGGCTGGCTGGGAGTTCAGCCAGAGAAAGTCAGAACCAAGCAGAACGTCACCACTTTTCTGGGTCCCTCCCTCAGATATAAGGGGTGAGGGGGCTAGGGAGAGGGTGGAAGGCTGTCCAAAATAGCTACAAAAGGGCGGGCGTGGTGGCTCATGCCTGTAATCCAAGCACTTTAGGAGGCTGAAGTGGGAGAATCACTTGAGGCCAGAATCACCTGAGTTCGAAACCAGTCTGAGCAACATAGCGAGACCCCCATCTCAAAAAAATACAACATAAAATAACTACAAAAATAAGCACTTTACTAACAACAGGATTCTCAGGGAATGGGGGCTTTCAGAGGTGTCACTGGGCTGCACTGTTGAGGCTGTGTGCATCAGTGGAGATGTGAGACCGAAAGAAATTATCCAGGACTTGCTGGCCCATGCGGGGCTTTTTCCGACTGCACGGAGAGGACACCTGGGACCTTTTGGAACCCTGTGAAAAAATGGAAGGAGGGAGGCCTTGTAGTTGGGGGAGGGGGAGCAGAGAATCCTCTCCTTGTCCTCTCTCCCTTTCCCCGACTCTACTGATCTAGCTAGGCTTAGCCTGGAATGCTGTAGAGCTTTCATCCTGCCTCAAGTATCTGCCCCATCAATCAACCCTCCAAAAGGCTGCCTGAGGGAATCGAATTGTCCTAAAAATGCAAATCTGACTCCTCTCTCCTCCACCTAAAATGAGTCAGCAGCCTAGGGCTCACACCCTGACTGACCCAGCAGGCCCTGCTGACCTTTCCAGCTAAACCAACTGCTCACAGCTCCTTGAGCACTGCAGCCTGCACTGGGCTCCACCTTTGCTCACACTACTCTTGGGACTGGAAAGAACATCGCTACGGTTGATTCCCCTCCCAAACCTGAAGAAAAGGATTCATTTCTAGGACGAAGATTACCAGCTGCTTCCTCCAAACAGCCTTTCCTGATCCGTCTCCCAATTAGAACTGATAGCTCCC
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Task1_train_850
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Here is a variant affecting HPDL (4-hydroxyphenylpyruvate dioxygenase like) on Chromosome 1. Please identify whether it is a benign mutation or associated with a disorder.
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Pathogenic; Neurodevelopmental disorder with progressive spasticity and brain white matter abnormalities
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TCCCTAACCCTTCAAGGGCCACTCAGTTGAAGTTCCAGAAGACTACAAATTCCTCAATCCAGTCATCTCACACAATTCTGGGTTTCAGAGCCAGAAGTGCCCCCACCACAGAAATCTCTGGCTCAATGCCAAGTCAGGAAGCTGCAAAGAGCAAGGAGGGCCTGTGTTCCAGTCCTCAAAGGATGGGGAAGGGGAATGACAGCCAGGCAGCTGTTCCTTTCAGATCCCGAACCGTCAGATTTTTCCTCCAAATCTTGCTTGGGACAAGGGGTTAAATGATGTTGACAGAAGGGTGATTGAAGAAAGAGACAGGACTGGTTGAGAGATTGCCCAACACTTTGGGAGGCTGAGGTGGAAAGATGGCTTGAGCCCAGGGGTTTAAAACCAGCTTGGGCAATATAGCAAGACCCCATTTCTAAAAAAAAAAATTATTTTTAATTAGCTGGGTGTGGTGGCGTCCGCCTGTGGTCCCAGCTATTTGTGCACTGAGGCAAGGAAAATCGCCTGAACCCAGGAGGTGGAGGCTGCAGTGAGCTGTGATTGTGCCACTCCAGCCTGGGTGACAGAGTGAGACCCTGTCTCAAAACATATAAACGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTATTCCAGGGAACATTAAGACTTAGAGGCAAACTCCAGAACTTAAAGAAAAAACATGAAAGTGCTAAAAAATTCCGTGCTTGTGGAGAGAGAATTCCAACTCTTTCCCTGAACCCGGGCTGAGTCCCTTCGCTGTGAGGTTGGGGGGATGAGTGGGAGCCCAGTGCCTGGCGCCGAGTGAAGGCAGCCATTGTGAGTTCCTGGGCTGGGGAAGGGAGGCTCAGTGCCCAAGGATGTGACCAGGCGTGAGGCCCGGGGAAAGAGCAGCGCGGCGACCCCGCAGTATCCGAGGCGACAGGGTGTGGGGGAGGGGGTGGGGAGTCAAAGGCGGAGTCACGGGCTCCGCCCTCTTTCTCCTGCTTGGCGCGAGCACAGGCACCGCGTGGTTCTCACAACCAGCAGCTCGGCTCACTGAGACCCGGTGGTCCAGACGCTGCTCCTGGCTGGGGTGGCGCTGCAGGGAGAACCGCGAGCTCTCAGGGGTCGGCGGGTGACTTCTTTCCGGAAGAAAGCGAGGAACGCGCTCTGCGGGGTGAGCCGGACTCCCCAACTCCGGACGATCAGCCCAGGACTGAGAGCCCCGAAGTCCCCAACCACAAGTAAGCGGCCCCAGAAGGACAAGTCTAGGTCGCCGTCCAGAGCGCCATGGCCGCGCCCGCCCTTCGTTTGTGCCACATCGCCTTCCACGTGCCCGCCGGGCAGCCCCTAGCCCGGAACCTGCAGCGCCTCTTCGGCTTCCAGCCCCTGGCTTCGCGGGAGGTGGACGGCTGGCGGCAGCTAGCCCTGCGCAGCGGCGACGCGGTCTTTTTGGTGAACGAGGGCGCAGGGTCTGGAGAGCCGCTGTACGGCCTGGATCCGCGTCACGCCGTGCCCAGCGCCACAAACCTGTGCTTCGACGTGGCGGACGCCGGCGCTGCAACCCGGGAGCTGGCAGCGCTGGGCTGCAGCGTGCCTGTCCCTCCCGTTCGCGTGCGGGACGCGCAGGGTGCCGCCACTTACGCCGTGGTCAGCTCGCCTGCCGGCATCCTCAGCCTGACCTTGCTGGAGCGCGCTGGCTACCGCGGACCCTTCCTACCCGGCTTCAGGCCCGTGTCCTCTGCGCCTGGCCCCGGGTGGGTCAGCCGCGTGGACCACCTGACCTTGGCCTGCACCCCCGGCAGCTCCCCCACACTTTTGCGCTGGTTCCACGACTGCCTGGGCTTTTGCCACTTGCCGCTGAGCCCAGGTGAGGATCCCGAGCTGGGCCTCGAAATGACAGCAGGGTTTGGGCTTGGGGGACTGAGGCTTACAGCCCTGCAGGCCCAGCCGGGCAGCATTGTCCCCACTCTTGTTCTGGCTGAGTCCCTTCCGGGGGCGACGACACGACAGGACCAGGTGGAGCAGTTCCTGGCCCGGCACAAGGGGCCAGGCCTGCAGCACGTGGGGCTGTATACGCCTAACATTGTGGAGGCCACTGAGGGGGTGGCAACTGCTGGAGGCCAGTTCCTGGCTCCCCCTGGGGCATACTACCAGCAGCCAGGAAAGGAGAGGCAGATCCGAGCTGCAGGGCACGAGCCTCATCTGCTTGCTCGACAGGGGATCCTGCTAGATGGTGATAAAGGCAAGTTTCTGCTTCAGGTCTTCACCAAGTCCCTTTTTACTGAGGACACTTTCTTCCTGGAGCTGATTCAGAGGCAGGGGGCCACTGGCTTTGGTCAGGGCAACATCAGAGCTCTGTGGCAGTCCGTACAGGAGCAATCTGCCAGGAGCCAGGAAGCCTAAGGATGCCCAGGGCTGGGTGCAGCCAGCTGTCCTGCAGCTCTGGGGAGACCAGCACAGAACTGAGGAACATCTGCAGGAGGCCCAACTAGTGAAAGGCTTTGCCTCCGGGGGGCAGGTGTGACTTCCATTTCATCAGTGCCTGCCAGAAGCTGTGTCTCTCATTGGGCTCCAAAGAGGTGGGATTTTTTAAAACTAAAACATTTCTTATATACAGTCTATAATAAATATGTAAGATACAAAGAACAATAAAAGAATTACACACTAGGAAATAGAACATAACCAATACTTTCGAGTCCTCCCTGTGTCCCGCTGTGATTCTATTTCCTCCCACCCACTCCTCAAATCCTGTCATTATTAGCCCTTTGCTTTTCTGTATTGTTTCACTCCGTATGTAACATAACCCTAAATAAATTATTTCGTATTTGAGGTAGGAATTTAAAACAGAACAAATCTTCTCCTGTGCTTCCTCTCCCCCTAGGGAGCGACCACTCAGGTGGGGAGGGGCTGGGTGAGAGTTGAGCCCAACTACCTACTCCAGAGTGATGCCACCACTCCAATTAGAGCTGACCTGAGACGTAAACAGAGGGTGTTGTGTGTCAGCCACTGGCAGGTTCTCCCTGTAGCTGCCTTGCCTTTCTCCTGGGGGTTGGAGGGCAGATCAGTCTGGACAGAACACCCCCACTCCAACCCCATCTGCCCGGGGCTGGCTGGGAGTTCAGCCAGAGAAAGTCAGAACCAAGCAGAACGTCACCACTTTTCTGGGTCCCTCCCTCAGATATAAGGGGTGAGGGGGCTAGGGAGAGGGTGGAAGGCTGTCCAAAATAGCTACAAAAGGGCGGGCGTGGTGGCTCATGCCTGTAATCCAAGCACTTTAGGAGGCTGAAGTGGGAGAATCACTTGAGGCCAGAATCACCTGAGTTCGAAACCAGTCTGAGCAACATAGCGAGACCCCCATCTCAAAAAAATACAACATAAAATAACTACAAAAATAAGCACTTTACTAACAACAGGATTCTCAGGGAATGGGGGCTTTCAGAGGTGTCACTGGGCTGCACTGTTGAGGCTGTGTGCATCAGTGGAGATGTGAGACCGAAAGAAATTATCCAGGACTTGCTGGCCCATGCGGGGCTTTTTCCGACTGCACGGAGAGGACACCTGGGACCTTTTGGAACCCTGTGAAAAAATGGAAGGAGGGAGGCCTTGTAGTTGGGGGAGGGGGAGCAGAGAATCCTCTCCTTGTCCTCTCTCCCTTTCCCCGACTCTACTGATCTAGCTAGGCTTAGCCTGGAATGCTGTAGAGCTTTCATCCTGCCTCAAGTATCTGCCCCATCAATCAACCCTCCAAAAGGCTGCCTGAGGGAATCGAATTGTCCTAAAAATGCAAATCTGACTCCTCTCTCCTCCACCTAAAATGAGTCAGCAGCCTAGGGCTCACACCCTGACTGACCCAGCAGGCCCTGCTGACCTTTCCAGCTAAACCAACTGCTCACAGCTCCTTGAGCACTGCAGCCTGCACTGGGCTCCACCTTTGCTCACACTACTCTTGGGACTGGAAAGAACATCGCTACGGTTGATTCCCCTCCCAAACCTGAAGAAAAGGATTCATTTCTAGGACGAAGATTACCAGCTGCTTCCTCCAAACAGCCTTTCCTGATCCGTCTCCCAATTAGAACTGATAGCTCCCATGGATGGGTGTGGTGGCTCACGCCT
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TCCCTAACCCTTCAAGGGCCACTCAGTTGAAGTTCCAGAAGACTACAAATTCCTCAATCCAGTCATCTCACACAATTCTGGGTTTCAGAGCCAGAAGTGCCCCCACCACAGAAATCTCTGGCTCAATGCCAAGTCAGGAAGCTGCAAAGAGCAAGGAGGGCCTGTGTTCCAGTCCTCAAAGGATGGGGAAGGGGAATGACAGCCAGGCAGCTGTTCCTTTCAGATCCCGAACCGTCAGATTTTTCCTCCAAATCTTGCTTGGGACAAGGGGTTAAATGATGTTGACAGAAGGGTGATTGAAGAAAGAGACAGGACTGGTTGAGAGATTGCCCAACACTTTGGGAGGCTGAGGTGGAAAGATGGCTTGAGCCCAGGGGTTTAAAACCAGCTTGGGCAATATAGCAAGACCCCATTTCTAAAAAAAAAAATTATTTTTAATTAGCTGGGTGTGGTGGCGTCCGCCTGTGGTCCCAGCTATTTGTGCACTGAGGCAAGGAAAATCGCCTGAACCCAGGAGGTGGAGGCTGCAGTGAGCTGTGATTGTGCCACTCCAGCCTGGGTGACAGAGTGAGACCCTGTCTCAAAACATATAAACGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTATTCCAGGGAACATTAAGACTTAGAGGCAAACTCCAGAACTTAAAGAAAAAACATGAAAGTGCTAAAAAATTCCGTGCTTGTGGAGAGAGAATTCCAACTCTTTCCCTGAACCCGGGCTGAGTCCCTTCGCTGTGAGGTTGGGGGGATGAGTGGGAGCCCAGTGCCTGGCGCCGAGTGAAGGCAGCCATTGTGAGTTCCTGGGCTGGGGAAGGGAGGCTCAGTGCCCAAGGATGTGACCAGGCGTGAGGCCCGGGGAAAGAGCAGCGCGGCGACCCCGCAGTATCCGAGGCGACAGGGTGTGGGGGAGGGGGTGGGGAGTCAAAGGCGGAGTCACGGGCTCCGCCCTCTTTCTCCTGCTTGGCGCGAGCACAGGCACCGCGTGGTTCTCACAACCAGCAGCTCGGCTCACTGAGACCCGGTGGTCCAGACGCTGCTCCTGGCTGGGGTGGCGCTGCAGGGAGAACCGCGAGCTCTCAGGGGTCGGCGGGTGACTTCTTTCCGGAAGAAAGCGAGGAACGCGCTCTGCGGGGTGAGCCGGACTCCCCAACTCCGGACGATCAGCCCAGGACTGAGAGCCCCGAAGTCCCCAACCACAAGTAAGCGGCCCCAGAAGGACAAGTCTAGGTCGCCGTCCAGAGCGCCATGGCCGCGCCCGCCCTTCGTTTGTGCCACATCGCCTTCCACGTGCCCGCCGGGCAGCCCCTAGCCCGGAACCTGCAGCGCCTCTTCGGCTTCCAGCCCCTGGCTTCGCGGGAGGTGGACGGCTGGCGGCAGCTAGCCCTGCGCAGCGGCGACGCGGTCTTTTTGGTGAACGAGGGCGCAGGGTCTGGAGAGCCGCTGTACGGCCTGGATCCGCGTCACGCCGTGCCCAGCGCCACAAACCTGTGCTTCGACGTGGCGGACGCCGGCGCTGCAACCCGGGAGCTGGCAGCGCTGGGCTGCAGCGTGCCTGTCCCTCCCGTTCGCGTGCGGGACGCGCAGGGTGCCGCCACTTACGCCGTGGTCAGCTCGCCTGCCGGCATCCTCAGCCTGACCTTGCTGGAGCGCGCTGGCTACCGCGGACCCTTCCTACCCGGCTTCAGGCCCGTGTCCTCTGCGCCTGGCCCCGGGTGGGTCAGCCGCGTGGACCACCTGACCTTGGCCTGCACCCCCGGCAGCTCCCCCACACTTTTGCGCTGGTTCCACGACTGCCTGGGCTTTTGCCACTTGCCGCTGAGCCCAGGTGAGGATCCCGAGCTGGGCCTCGAAATGACAGCAGGGTTTGGGCTTGGGGGACTGAGGCTTACAGCCCTGCAGGCCCAGCCGGGCAGCATTGTCCCCACTCTTGTTCTGGCTGAGTCCCTTCCGGGGGCGACGACACGACAGGACCAGGTGGAGCAGTTCCTGGCCCGGCACAAGGGGCCAGGCCTGCAGCACGTGGAGCTGTATACGCCTAACATTGTGGAGGCCACTGAGGGGGTGGCAACTGCTGGAGGCCAGTTCCTGGCTCCCCCTGGGGCATACTACCAGCAGCCAGGAAAGGAGAGGCAGATCCGAGCTGCAGGGCACGAGCCTCATCTGCTTGCTCGACAGGGGATCCTGCTAGATGGTGATAAAGGCAAGTTTCTGCTTCAGGTCTTCACCAAGTCCCTTTTTACTGAGGACACTTTCTTCCTGGAGCTGATTCAGAGGCAGGGGGCCACTGGCTTTGGTCAGGGCAACATCAGAGCTCTGTGGCAGTCCGTACAGGAGCAATCTGCCAGGAGCCAGGAAGCCTAAGGATGCCCAGGGCTGGGTGCAGCCAGCTGTCCTGCAGCTCTGGGGAGACCAGCACAGAACTGAGGAACATCTGCAGGAGGCCCAACTAGTGAAAGGCTTTGCCTCCGGGGGGCAGGTGTGACTTCCATTTCATCAGTGCCTGCCAGAAGCTGTGTCTCTCATTGGGCTCCAAAGAGGTGGGATTTTTTAAAACTAAAACATTTCTTATATACAGTCTATAATAAATATGTAAGATACAAAGAACAATAAAAGAATTACACACTAGGAAATAGAACATAACCAATACTTTCGAGTCCTCCCTGTGTCCCGCTGTGATTCTATTTCCTCCCACCCACTCCTCAAATCCTGTCATTATTAGCCCTTTGCTTTTCTGTATTGTTTCACTCCGTATGTAACATAACCCTAAATAAATTATTTCGTATTTGAGGTAGGAATTTAAAACAGAACAAATCTTCTCCTGTGCTTCCTCTCCCCCTAGGGAGCGACCACTCAGGTGGGGAGGGGCTGGGTGAGAGTTGAGCCCAACTACCTACTCCAGAGTGATGCCACCACTCCAATTAGAGCTGACCTGAGACGTAAACAGAGGGTGTTGTGTGTCAGCCACTGGCAGGTTCTCCCTGTAGCTGCCTTGCCTTTCTCCTGGGGGTTGGAGGGCAGATCAGTCTGGACAGAACACCCCCACTCCAACCCCATCTGCCCGGGGCTGGCTGGGAGTTCAGCCAGAGAAAGTCAGAACCAAGCAGAACGTCACCACTTTTCTGGGTCCCTCCCTCAGATATAAGGGGTGAGGGGGCTAGGGAGAGGGTGGAAGGCTGTCCAAAATAGCTACAAAAGGGCGGGCGTGGTGGCTCATGCCTGTAATCCAAGCACTTTAGGAGGCTGAAGTGGGAGAATCACTTGAGGCCAGAATCACCTGAGTTCGAAACCAGTCTGAGCAACATAGCGAGACCCCCATCTCAAAAAAATACAACATAAAATAACTACAAAAATAAGCACTTTACTAACAACAGGATTCTCAGGGAATGGGGGCTTTCAGAGGTGTCACTGGGCTGCACTGTTGAGGCTGTGTGCATCAGTGGAGATGTGAGACCGAAAGAAATTATCCAGGACTTGCTGGCCCATGCGGGGCTTTTTCCGACTGCACGGAGAGGACACCTGGGACCTTTTGGAACCCTGTGAAAAAATGGAAGGAGGGAGGCCTTGTAGTTGGGGGAGGGGGAGCAGAGAATCCTCTCCTTGTCCTCTCTCCCTTTCCCCGACTCTACTGATCTAGCTAGGCTTAGCCTGGAATGCTGTAGAGCTTTCATCCTGCCTCAAGTATCTGCCCCATCAATCAACCCTCCAAAAGGCTGCCTGAGGGAATCGAATTGTCCTAAAAATGCAAATCTGACTCCTCTCTCCTCCACCTAAAATGAGTCAGCAGCCTAGGGCTCACACCCTGACTGACCCAGCAGGCCCTGCTGACCTTTCCAGCTAAACCAACTGCTCACAGCTCCTTGAGCACTGCAGCCTGCACTGGGCTCCACCTTTGCTCACACTACTCTTGGGACTGGAAAGAACATCGCTACGGTTGATTCCCCTCCCAAACCTGAAGAAAAGGATTCATTTCTAGGACGAAGATTACCAGCTGCTTCCTCCAAACAGCCTTTCCTGATCCGTCTCCCAATTAGAACTGATAGCTCCCATGGATGGGTGTGGTGGCTCACGCCT
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Task1_train_851
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This genomic variant is located on Chromosome 1, within the MUTYH (mutY DNA glycosylase) gene. Can you determine its pathogenicity and name any linked disease?
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Pathogenic; Gastric cancer
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GGAGGGAGGCCTTGTAGTTGGGGGAGGGGGAGCAGAGAATCCTCTCCTTGTCCTCTCTCCCTTTCCCCGACTCTACTGATCTAGCTAGGCTTAGCCTGGAATGCTGTAGAGCTTTCATCCTGCCTCAAGTATCTGCCCCATCAATCAACCCTCCAAAAGGCTGCCTGAGGGAATCGAATTGTCCTAAAAATGCAAATCTGACTCCTCTCTCCTCCACCTAAAATGAGTCAGCAGCCTAGGGCTCACACCCTGACTGACCCAGCAGGCCCTGCTGACCTTTCCAGCTAAACCAACTGCTCACAGCTCCTTGAGCACTGCAGCCTGCACTGGGCTCCACCTTTGCTCACACTACTCTTGGGACTGGAAAGAACATCGCTACGGTTGATTCCCCTCCCAAACCTGAAGAAAAGGATTCATTTCTAGGACGAAGATTACCAGCTGCTTCCTCCAAACAGCCTTTCCTGATCCGTCTCCCAATTAGAACTGATAGCTCCCATGGATGGGTGTGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCAAGATGGGCAGATCACTTGAGGTCAGGAGTTCGAGACCAGCCTAGTCAACATGGTGAAACCCTGTCTCTACTAAAAATACAAAAATTAGTTGGGTGTGGTAGCAGGCACCTGTAATCCCAGCTACTTGGGAGACTGAGGCAGGAGAATCGCTTTAATCCAGTTGTGGGAGATTGCAGTGAGCCGAGATCGGGCCACTGCACTCTAGCTTGGGTGACAGTGAGACTGTCTCAAAAAAAAAAAAAAAAAAAAAAAAGAACTGATGGCTCCACAATTCATATCCCACAAAACTCAGTACAGGCATTTCACACACCTGTGACACTGGAGAGTCCTCATCATTTTTTTCCTTTCCCTCTACCCTGCACCCCACAATGGAAGGTCTCCAGGTCAAGAACTATTCCTCCCTCCAGTGAAGCCTGGAGTGGAGAATGTTCACCCAGACATTCGTTAGTTAACTGACTAAAAACCTATGGACTCAGGCCTGGGGAGACACGGTTGGGAGAGGCCTAGGAGACTTACCATACAGGTCCCTGGCTGTTGGCCCTGATACACACGGAAAACCTAGACAAGAAGACAGGGAGGTGAGGGCTGGCACTTTTTGCAAAAGAGATAAACCGGTGTTCTGCCCTTAACTTCATGTCCCAGTACTTTTGTTTAAAATATGCTTTTTTGGCCAGGCATGGTGGCTCACGCCTATAATCCCAGCATTTTGGGAGGCCAAGTCGGGTGGATCACTTGAGGCCAGGAGTTTGAGACCAGCCTGGCCAACATGGTGAAACCCCATCTCTAAAAATACAAAAAATCATGGCTGGGTGTGGTAGCTCACACCTGTAATCCCAGCATTCTGGGAGGCTGAGGCGGGCGGATCACTTGAGGTCAAGAGTTGGAGACCAGCCTGGCCAGCATGGTGAAACCTCATCTCTACTAAAAATACAAAAATTAGCCAGGCATGGTGGCGGGCGCCTGTAATCCGAGCTACTCAGGAAGCTGAGGCAGGAGAATCACTTGAACCCGGGAGATGGAGGTTGCAGTCAACCGAGATAGCGCCATTGCACTCCAGCCTGGGCAACAGAGCGATTCTCCGTCTCAAAAAAAAATGCTTTTTTTCCTGTTTACACAGTAATATATTCATGTAGAACATGTAGGAAACACAAGGAAGTACAACAAAGACAACAAAGGTAGTGCCTTTTTCATGGCGGTGGAAACAGCTGCGGTGTGAAATTCCTCCTGCGTCAGCCAGCGAGCACCTGGTGGTACGGTGGTCACTGGGGTCTGCCCTTCCAAGGCCAGCCCATATACTTGATATGTCAGCTTGATGTGAGAGAAGGTGTGGACAACCTGGAGGAAGGGTCAAGGGGTTCAAATAGGCCTGTGGATATAGCCTCAAAAGCCAACATCCTTGGCTATTCCGCTGCTCACTTACCTCCCCAAGGTGCCGGAGGTGCGTGGCTGGGAGGGGCCCAGCCCAACGCTGTAGTTCCTGCAGCAGGGCCTTGCGCTGAAGCTGCTCTGAGGGCTCCCAGGTCACGGACGGGAACTCCCACAGTCCTGCCAGCAGACCTGAGAGGGAGGGCAGCCAGGCAGGGGTCAGGCCTCAGCTGCCGATTCCCTCCATTCTCTCTTGTTACTCATGCCACTGCCCTCCACGCCCAGTATCCAGGTACCTGAGTTGGGCCTCTGCACCAGCAGAATTTGGGCCCCAAGGGCCCCAGGCTGTTCCAGAACACAGGTGGCAGAGCTCTCCTCCCTGGGGGGCTTGCGGCTGGCCTTTCTGGGGAAGTTGACCACTCCCAGGGTCTGGTCCCAGGGCTCCGAGGGAGGCAGGCACAGGTGGCACTGTCCAGTGTTGGGAGCTGGGAACGGAGATCCCCGAACCCTACTCAAGCCAAGAGGGCTTTAGGGGCCAACCTAGAGAGTGGGCTTTGGCCGGGTTCTGCAGAATCTTACTCAGGTTAGAGGAAGAACTGGAATGGGGCTTCTGACTGGGCCAGGAAGGGTTGGGGTGGGGGCTAGGTTTGGTGCTCACCACACTCCTCCACGTCAGGACTGCCCGACAGGCTCCCTGAGGCTAAGAGCTGTTCCTGCTCCACCTGAGAGGCACAGGGTTGAGTGTCATAGGGCAGAGTCACTCCTTAGGACTTCTCACTGCCCCTTCCCCAGTAGGCTTACTCTCTGGCGTGCCCGGCACAGGCTCTCCACAGGGCACTGGCTGCACAGTGGGCGCTGTGGGGTACACACTGTGGCCCCTAGCTCCATGGCTGCTTGGTTGAAATCTCCTGGCCGGGCTGGGTCCACCAGCTGCTGGGCTAGACCCCTAAAAGAAGGGAACACTGCTGTGAAGCAGAGCTCCTTTGCAGACACCCCTGAAGCACCCTTGTTACCCCAACATCCTACCAGAGCTGCTGGGAAACAAGGGTGCTGCTGGGATCAGCACCAATGGCTCGGACACGGCACAGCACCCGTGCTACGTTGCCATCCACCACACCGGTTGCCTGGCACAGAGGGGCCAAAGAGTTAGCCTGGGCTGGGAGGAAGGAGGCTGGGCACGCACAAAGTGGGGGTGGGCTGTGAGATCACCTGGCCAAAGGCGATAGAGGCAATGGCCCCAGCTGTGTAGCGCCCCACGCCAGGCAGGAGCTGCTGCAGGGTCTCTGCTGTACGTGGCATGTGGCCCCCTAGCTCCTCTACCACCTGATTGGAGTGCAAGACTCAAGATTATAAGACACCCAAGACTCCTGGGTTCCTACCCTCCTGCCATCCCCTTACCTTCCGAGCTCCCTCCTGCAGCCGCCGGCCACGAGAATAGTAGCCCAGGCCAGCCCAGAGTTGATTCACCTCCTGTGGGTAGGATCAGAGGTCAAAGAGATCACCCGTCAGTCCCTCTATTGTTCCTATTTCCCCTACCCTAGGGTGGCTCTCACCTCCAGGGAAGCACTGGCCAGGTCCTGCAGTGTAGGCCACTTCTATAGCCACAGGCAGGCAGAAAGAGACAAGGTCAAGGGTGAAGGTGGTAGAGGAAGCCTTCTCTACACCCACCCCAAAGTAGAGGCTCTCATCTGGGGTCTGACCCATGACCCTTCCCTTCCTCCCCTGGAGTCACCTGCATCCATCCGGTATAGTAGTTGATCACAGTGGCAACCTGGGTCTGCTGCAGCATGACCTCTGAGACCCACACTGGGGGAAAGGGGTTGGCATGAGGACACTGCTGACCTGCCCCTACCTGGCCCACAGCCCCCAGACCCAAGGGCCTCGAGGCAAAGTGGCCCTGCTCTCAGGAGATGTACTGACCAGCATATGCCCGCCTGTCCAGGTCCATCTCATCTTCTGCCTGTCAATGCAACCCCAGATGAGGAGTTAGGGTGGAGGGGGCTGGGTGCCTGCCTCCCACCCACTGTCCCTGCTCCTCGCCTGCCTACCCGTCTTCTCCATGGTAGGTCCCGTTTCTCTTGGTCGTACCAGCTTAGCAGGCTCCCTCGGAAGGCTGTGACTTCAGCTACGTCTCTGAATAGATGGTATGAGGAGACAGAGGCCTGCAATACCACCTCTTCCGGCT
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GGAGGGAGGCCTTGTAGTTGGGGGAGGGGGAGCAGAGAATCCTCTCCTTGTCCTCTCTCCCTTTCCCCGACTCTACTGATCTAGCTAGGCTTAGCCTGGAATGCTGTAGAGCTTTCATCCTGCCTCAAGTATCTGCCCCATCAATCAACCCTCCAAAAGGCTGCCTGAGGGAATCGAATTGTCCTAAAAATGCAAATCTGACTCCTCTCTCCTCCACCTAAAATGAGTCAGCAGCCTAGGGCTCACACCCTGACTGACCCAGCAGGCCCTGCTGACCTTTCCAGCTAAACCAACTGCTCACAGCTCCTTGAGCACTGCAGCCTGCACTGGGCTCCACCTTTGCTCACACTACTCTTGGGACTGGAAAGAACATCGCTACGGTTGATTCCCCTCCCAAACCTGAAGAAAAGGATTCATTTCTAGGACGAAGATTACCAGCTGCTTCCTCCAAACAGCCTTTCCTGATCCGTCTCCCAATTAGAACTGATAGCTCCCATGGATGGGTGTGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCAAGATGGGCAGATCACTTGAGGTCAGGAGTTCGAGACCAGCCTAGTCAACATGGTGAAACCCTGTCTCTACTAAAAATACAAAAATTAGTTGGGTGTGGTAGCAGGCACCTGTAATCCCAGCTACTTGGGAGACTGAGGCAGGAGAATCGCTTTAATCCAGTTGTGGGAGATTGCAGTGAGCCGAGATCGGGCCACTGCACTCTAGCTTGGGTGACAGTGAGACTGTCTCAAAAAAAAAAAAAAAAAAAAAAAAGAACTGATGGCTCCACAATTCATATCCCACAAAACTCAGTACAGGCATTTCACACACCTGTGACACTGGAGAGTCCTCATCATTTTTTTCCTTTCCCTCTACCCTGCACCCCACAATGGAAGGTCTCCAGGTCAAGAACTATTCCTCCCTCCAGTGAAGCCTGGAGTGGAGAATGTTCACCCAGACATTCGTTAGTTAACTGACTAAAAACCTATGGACTCAGGCCTGGGGAGACACGGTTGGGAGAGGCCTAGGAGACTTACCATACAGGTCCCTGGCTGTTGGCCCTGATACACACGGAAAACCTAGACAAGAAGACAGGGAGGTGAGGGCTGGCACTTTTTGCAAAAGAGATAAACCGGTGTTCTGCCCTTAACTTCATGTCCCAGTACTTTTGTTTAAAATATGCTTTTTTGGCCAGGCATGGTGGCTCACGCCTATAATCCCAGCATTTTGGGAGGCCAAGTCGGGTGGATCACTTGAGGCCAGGAGTTTGAGACCAGCCTGGCCAACATGGTGAAACCCCATCTCTAAAAATACAAAAAATCATGGCTGGGTGTGGTAGCTCACACCTGTAATCCCAGCATTCTGGGAGGCTGAGGCGGGCGGATCACTTGAGGTCAAGAGTTGGAGACCAGCCTGGCCAGCATGGTGAAACCTCATCTCTACTAAAAATACAAAAATTAGCCAGGCATGGTGGCGGGCGCCTGTAATCCGAGCTACTCAGGAAGCTGAGGCAGGAGAATCACTTGAACCCGGGAGATGGAGGTTGCAGTCAACCGAGATAGCGCCATTGCACTCCAGCCTGGGCAACAGAGCGATTCTCCGTCTCAAAAAAAAATGCTTTTTTTCCTGTTTACACAGTAATATATTCATGTAGAACATGTAGGAAACACAAGGAAGTACAACAAAGACAACAAAGGTAGTGCCTTTTTCATGGCGGTGGAAACAGCTGCGGTGTGAAATTCCTCCTGCGTCAGCCAGCGAGCACCTGGTGGTACGGTGGTCACTGGGGTCTGCCCTTCCAAGGCCAGCCCATATACTTGATATGTCAGCTTGATGTGAGAGAAGGTGTGGACAACCTGGAGGAAGGGTCAAGGGGTTCAAATAGGCCTGTGGATATAGCCTCAAAAGCCAACATCCTTGGCTATTCCGCTGCTCACTTACCTCCCCAAGGTGCCGGAGGTGCGTGGCTGGGAGGGGCCCAGCCCAACGCTGTAGTTCCTGCAGCAGGGCCTTGCGCTGAAGCCGCTCTGAGGGCTCCCAGGTCACGGACGGGAACTCCCACAGTCCTGCCAGCAGACCTGAGAGGGAGGGCAGCCAGGCAGGGGTCAGGCCTCAGCTGCCGATTCCCTCCATTCTCTCTTGTTACTCATGCCACTGCCCTCCACGCCCAGTATCCAGGTACCTGAGTTGGGCCTCTGCACCAGCAGAATTTGGGCCCCAAGGGCCCCAGGCTGTTCCAGAACACAGGTGGCAGAGCTCTCCTCCCTGGGGGGCTTGCGGCTGGCCTTTCTGGGGAAGTTGACCACTCCCAGGGTCTGGTCCCAGGGCTCCGAGGGAGGCAGGCACAGGTGGCACTGTCCAGTGTTGGGAGCTGGGAACGGAGATCCCCGAACCCTACTCAAGCCAAGAGGGCTTTAGGGGCCAACCTAGAGAGTGGGCTTTGGCCGGGTTCTGCAGAATCTTACTCAGGTTAGAGGAAGAACTGGAATGGGGCTTCTGACTGGGCCAGGAAGGGTTGGGGTGGGGGCTAGGTTTGGTGCTCACCACACTCCTCCACGTCAGGACTGCCCGACAGGCTCCCTGAGGCTAAGAGCTGTTCCTGCTCCACCTGAGAGGCACAGGGTTGAGTGTCATAGGGCAGAGTCACTCCTTAGGACTTCTCACTGCCCCTTCCCCAGTAGGCTTACTCTCTGGCGTGCCCGGCACAGGCTCTCCACAGGGCACTGGCTGCACAGTGGGCGCTGTGGGGTACACACTGTGGCCCCTAGCTCCATGGCTGCTTGGTTGAAATCTCCTGGCCGGGCTGGGTCCACCAGCTGCTGGGCTAGACCCCTAAAAGAAGGGAACACTGCTGTGAAGCAGAGCTCCTTTGCAGACACCCCTGAAGCACCCTTGTTACCCCAACATCCTACCAGAGCTGCTGGGAAACAAGGGTGCTGCTGGGATCAGCACCAATGGCTCGGACACGGCACAGCACCCGTGCTACGTTGCCATCCACCACACCGGTTGCCTGGCACAGAGGGGCCAAAGAGTTAGCCTGGGCTGGGAGGAAGGAGGCTGGGCACGCACAAAGTGGGGGTGGGCTGTGAGATCACCTGGCCAAAGGCGATAGAGGCAATGGCCCCAGCTGTGTAGCGCCCCACGCCAGGCAGGAGCTGCTGCAGGGTCTCTGCTGTACGTGGCATGTGGCCCCCTAGCTCCTCTACCACCTGATTGGAGTGCAAGACTCAAGATTATAAGACACCCAAGACTCCTGGGTTCCTACCCTCCTGCCATCCCCTTACCTTCCGAGCTCCCTCCTGCAGCCGCCGGCCACGAGAATAGTAGCCCAGGCCAGCCCAGAGTTGATTCACCTCCTGTGGGTAGGATCAGAGGTCAAAGAGATCACCCGTCAGTCCCTCTATTGTTCCTATTTCCCCTACCCTAGGGTGGCTCTCACCTCCAGGGAAGCACTGGCCAGGTCCTGCAGTGTAGGCCACTTCTATAGCCACAGGCAGGCAGAAAGAGACAAGGTCAAGGGTGAAGGTGGTAGAGGAAGCCTTCTCTACACCCACCCCAAAGTAGAGGCTCTCATCTGGGGTCTGACCCATGACCCTTCCCTTCCTCCCCTGGAGTCACCTGCATCCATCCGGTATAGTAGTTGATCACAGTGGCAACCTGGGTCTGCTGCAGCATGACCTCTGAGACCCACACTGGGGGAAAGGGGTTGGCATGAGGACACTGCTGACCTGCCCCTACCTGGCCCACAGCCCCCAGACCCAAGGGCCTCGAGGCAAAGTGGCCCTGCTCTCAGGAGATGTACTGACCAGCATATGCCCGCCTGTCCAGGTCCATCTCATCTTCTGCCTGTCAATGCAACCCCAGATGAGGAGTTAGGGTGGAGGGGGCTGGGTGCCTGCCTCCCACCCACTGTCCCTGCTCCTCGCCTGCCTACCCGTCTTCTCCATGGTAGGTCCCGTTTCTCTTGGTCGTACCAGCTTAGCAGGCTCCCTCGGAAGGCTGTGACTTCAGCTACGTCTCTGAATAGATGGTATGAGGAGACAGAGGCCTGCAATACCACCTCTTCCGGCT
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Task1_train_852
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The gene MUTYH (mutY DNA glycosylase) on Chromosome 1 carries this variant. Does this mutation lead to a specific disease, or is it non-pathogenic?
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Pathogenic; Gastric cancer
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GGGAGCAGAGAATCCTCTCCTTGTCCTCTCTCCCTTTCCCCGACTCTACTGATCTAGCTAGGCTTAGCCTGGAATGCTGTAGAGCTTTCATCCTGCCTCAAGTATCTGCCCCATCAATCAACCCTCCAAAAGGCTGCCTGAGGGAATCGAATTGTCCTAAAAATGCAAATCTGACTCCTCTCTCCTCCACCTAAAATGAGTCAGCAGCCTAGGGCTCACACCCTGACTGACCCAGCAGGCCCTGCTGACCTTTCCAGCTAAACCAACTGCTCACAGCTCCTTGAGCACTGCAGCCTGCACTGGGCTCCACCTTTGCTCACACTACTCTTGGGACTGGAAAGAACATCGCTACGGTTGATTCCCCTCCCAAACCTGAAGAAAAGGATTCATTTCTAGGACGAAGATTACCAGCTGCTTCCTCCAAACAGCCTTTCCTGATCCGTCTCCCAATTAGAACTGATAGCTCCCATGGATGGGTGTGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCAAGATGGGCAGATCACTTGAGGTCAGGAGTTCGAGACCAGCCTAGTCAACATGGTGAAACCCTGTCTCTACTAAAAATACAAAAATTAGTTGGGTGTGGTAGCAGGCACCTGTAATCCCAGCTACTTGGGAGACTGAGGCAGGAGAATCGCTTTAATCCAGTTGTGGGAGATTGCAGTGAGCCGAGATCGGGCCACTGCACTCTAGCTTGGGTGACAGTGAGACTGTCTCAAAAAAAAAAAAAAAAAAAAAAAAGAACTGATGGCTCCACAATTCATATCCCACAAAACTCAGTACAGGCATTTCACACACCTGTGACACTGGAGAGTCCTCATCATTTTTTTCCTTTCCCTCTACCCTGCACCCCACAATGGAAGGTCTCCAGGTCAAGAACTATTCCTCCCTCCAGTGAAGCCTGGAGTGGAGAATGTTCACCCAGACATTCGTTAGTTAACTGACTAAAAACCTATGGACTCAGGCCTGGGGAGACACGGTTGGGAGAGGCCTAGGAGACTTACCATACAGGTCCCTGGCTGTTGGCCCTGATACACACGGAAAACCTAGACAAGAAGACAGGGAGGTGAGGGCTGGCACTTTTTGCAAAAGAGATAAACCGGTGTTCTGCCCTTAACTTCATGTCCCAGTACTTTTGTTTAAAATATGCTTTTTTGGCCAGGCATGGTGGCTCACGCCTATAATCCCAGCATTTTGGGAGGCCAAGTCGGGTGGATCACTTGAGGCCAGGAGTTTGAGACCAGCCTGGCCAACATGGTGAAACCCCATCTCTAAAAATACAAAAAATCATGGCTGGGTGTGGTAGCTCACACCTGTAATCCCAGCATTCTGGGAGGCTGAGGCGGGCGGATCACTTGAGGTCAAGAGTTGGAGACCAGCCTGGCCAGCATGGTGAAACCTCATCTCTACTAAAAATACAAAAATTAGCCAGGCATGGTGGCGGGCGCCTGTAATCCGAGCTACTCAGGAAGCTGAGGCAGGAGAATCACTTGAACCCGGGAGATGGAGGTTGCAGTCAACCGAGATAGCGCCATTGCACTCCAGCCTGGGCAACAGAGCGATTCTCCGTCTCAAAAAAAAATGCTTTTTTTCCTGTTTACACAGTAATATATTCATGTAGAACATGTAGGAAACACAAGGAAGTACAACAAAGACAACAAAGGTAGTGCCTTTTTCATGGCGGTGGAAACAGCTGCGGTGTGAAATTCCTCCTGCGTCAGCCAGCGAGCACCTGGTGGTACGGTGGTCACTGGGGTCTGCCCTTCCAAGGCCAGCCCATATACTTGATATGTCAGCTTGATGTGAGAGAAGGTGTGGACAACCTGGAGGAAGGGTCAAGGGGTTCAAATAGGCCTGTGGATATAGCCTCAAAAGCCAACATCCTTGGCTATTCCGCTGCTCACTTACCTCCCCAAGGTGCCGGAGGTGCGTGGCTGGGAGGGGCCCAGCCCAACGCTGTAGTTCCTGCAGCAGGGCCTTGCGCTGAAGCTGCTCTGAGGGCTCCCAGGTCACGGACGGGAACTCCCACAGTCCTGCCAGCAGACCTGAGAGGGAGGGCAGCCAGGCAGGGGTCAGGCCTCAGCTGCCGATTCCCTCCATTCTCTCTTGTTACTCATGCCACTGCCCTCCACGCCCAGTATCCAGGTACCTGAGTTGGGCCTCTGCACCAGCAGAATTTGGGCCCCAAGGGCCCCAGGCTGTTCCAGAACACAGGTGGCAGAGCTCTCCTCCCTGGGGGGCTTGCGGCTGGCCTTTCTGGGGAAGTTGACCACTCCCAGGGTCTGGTCCCAGGGCTCCGAGGGAGGCAGGCACAGGTGGCACTGTCCAGTGTTGGGAGCTGGGAACGGAGATCCCCGAACCCTACTCAAGCCAAGAGGGCTTTAGGGGCCAACCTAGAGAGTGGGCTTTGGCCGGGTTCTGCAGAATCTTACTCAGGTTAGAGGAAGAACTGGAATGGGGCTTCTGACTGGGCCAGGAAGGGTTGGGGTGGGGGCTAGGTTTGGTGCTCACCACACTCCTCCACGTCAGGACTGCCCGACAGGCTCCCTGAGGCTAAGAGCTGTTCCTGCTCCACCTGAGAGGCACAGGGTTGAGTGTCATAGGGCAGAGTCACTCCTTAGGACTTCTCACTGCCCCTTCCCCAGTAGGCTTACTCTCTGGCGTGCCCGGCACAGGCTCTCCACAGGGCACTGGCTGCACAGTGGGCGCTGTGGGGTACACACTGTGGCCCCTAGCTCCATGGCTGCTTGGTTGAAATCTCCTGGCCGGGCTGGGTCCACCAGCTGCTGGGCTAGACCCCTAAAAGAAGGGAACACTGCTGTGAAGCAGAGCTCCTTTGCAGACACCCCTGAAGCACCCTTGTTACCCCAACATCCTACCAGAGCTGCTGGGAAACAAGGGTGCTGCTGGGATCAGCACCAATGGCTCGGACACGGCACAGCACCCGTGCTACGTTGCCATCCACCACACCGGTTGCCTGGCACAGAGGGGCCAAAGAGTTAGCCTGGGCTGGGAGGAAGGAGGCTGGGCACGCACAAAGTGGGGGTGGGCTGTGAGATCACCTGGCCAAAGGCGATAGAGGCAATGGCCCCAGCTGTGTAGCGCCCCACGCCAGGCAGGAGCTGCTGCAGGGTCTCTGCTGTACGTGGCATGTGGCCCCCTAGCTCCTCTACCACCTGATTGGAGTGCAAGACTCAAGATTATAAGACACCCAAGACTCCTGGGTTCCTACCCTCCTGCCATCCCCTTACCTTCCGAGCTCCCTCCTGCAGCCGCCGGCCACGAGAATAGTAGCCCAGGCCAGCCCAGAGTTGATTCACCTCCTGTGGGTAGGATCAGAGGTCAAAGAGATCACCCGTCAGTCCCTCTATTGTTCCTATTTCCCCTACCCTAGGGTGGCTCTCACCTCCAGGGAAGCACTGGCCAGGTCCTGCAGTGTAGGCCACTTCTATAGCCACAGGCAGGCAGAAAGAGACAAGGTCAAGGGTGAAGGTGGTAGAGGAAGCCTTCTCTACACCCACCCCAAAGTAGAGGCTCTCATCTGGGGTCTGACCCATGACCCTTCCCTTCCTCCCCTGGAGTCACCTGCATCCATCCGGTATAGTAGTTGATCACAGTGGCAACCTGGGTCTGCTGCAGCATGACCTCTGAGACCCACACTGGGGGAAAGGGGTTGGCATGAGGACACTGCTGACCTGCCCCTACCTGGCCCACAGCCCCCAGACCCAAGGGCCTCGAGGCAAAGTGGCCCTGCTCTCAGGAGATGTACTGACCAGCATATGCCCGCCTGTCCAGGTCCATCTCATCTTCTGCCTGTCAATGCAACCCCAGATGAGGAGTTAGGGTGGAGGGGGCTGGGTGCCTGCCTCCCACCCACTGTCCCTGCTCCTCGCCTGCCTACCCGTCTTCTCCATGGTAGGTCCCGTTTCTCTTGGTCGTACCAGCTTAGCAGGCTCCCTCGGAAGGCTGTGACTTCAGCTACGTCTCTGAATAGATGGTATGAGGAGACAGAGGCCTGCAATACCACCTCTTCCGGCTGCCTGGCCAGGCCTGCTGGGGCCCCAG
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GGGAGCAGAGAATCCTCTCCTTGTCCTCTCTCCCTTTCCCCGACTCTACTGATCTAGCTAGGCTTAGCCTGGAATGCTGTAGAGCTTTCATCCTGCCTCAAGTATCTGCCCCATCAATCAACCCTCCAAAAGGCTGCCTGAGGGAATCGAATTGTCCTAAAAATGCAAATCTGACTCCTCTCTCCTCCACCTAAAATGAGTCAGCAGCCTAGGGCTCACACCCTGACTGACCCAGCAGGCCCTGCTGACCTTTCCAGCTAAACCAACTGCTCACAGCTCCTTGAGCACTGCAGCCTGCACTGGGCTCCACCTTTGCTCACACTACTCTTGGGACTGGAAAGAACATCGCTACGGTTGATTCCCCTCCCAAACCTGAAGAAAAGGATTCATTTCTAGGACGAAGATTACCAGCTGCTTCCTCCAAACAGCCTTTCCTGATCCGTCTCCCAATTAGAACTGATAGCTCCCATGGATGGGTGTGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCAAGATGGGCAGATCACTTGAGGTCAGGAGTTCGAGACCAGCCTAGTCAACATGGTGAAACCCTGTCTCTACTAAAAATACAAAAATTAGTTGGGTGTGGTAGCAGGCACCTGTAATCCCAGCTACTTGGGAGACTGAGGCAGGAGAATCGCTTTAATCCAGTTGTGGGAGATTGCAGTGAGCCGAGATCGGGCCACTGCACTCTAGCTTGGGTGACAGTGAGACTGTCTCAAAAAAAAAAAAAAAAAAAAAAAAGAACTGATGGCTCCACAATTCATATCCCACAAAACTCAGTACAGGCATTTCACACACCTGTGACACTGGAGAGTCCTCATCATTTTTTTCCTTTCCCTCTACCCTGCACCCCACAATGGAAGGTCTCCAGGTCAAGAACTATTCCTCCCTCCAGTGAAGCCTGGAGTGGAGAATGTTCACCCAGACATTCGTTAGTTAACTGACTAAAAACCTATGGACTCAGGCCTGGGGAGACACGGTTGGGAGAGGCCTAGGAGACTTACCATACAGGTCCCTGGCTGTTGGCCCTGATACACACGGAAAACCTAGACAAGAAGACAGGGAGGTGAGGGCTGGCACTTTTTGCAAAAGAGATAAACCGGTGTTCTGCCCTTAACTTCATGTCCCAGTACTTTTGTTTAAAATATGCTTTTTTGGCCAGGCATGGTGGCTCACGCCTATAATCCCAGCATTTTGGGAGGCCAAGTCGGGTGGATCACTTGAGGCCAGGAGTTTGAGACCAGCCTGGCCAACATGGTGAAACCCCATCTCTAAAAATACAAAAAATCATGGCTGGGTGTGGTAGCTCACACCTGTAATCCCAGCATTCTGGGAGGCTGAGGCGGGCGGATCACTTGAGGTCAAGAGTTGGAGACCAGCCTGGCCAGCATGGTGAAACCTCATCTCTACTAAAAATACAAAAATTAGCCAGGCATGGTGGCGGGCGCCTGTAATCCGAGCTACTCAGGAAGCTGAGGCAGGAGAATCACTTGAACCCGGGAGATGGAGGTTGCAGTCAACCGAGATAGCGCCATTGCACTCCAGCCTGGGCAACAGAGCGATTCTCCGTCTCAAAAAAAAATGCTTTTTTTCCTGTTTACACAGTAATATATTCATGTAGAACATGTAGGAAACACAAGGAAGTACAACAAAGACAACAAAGGTAGTGCCTTTTTCATGGCGGTGGAAACAGCTGCGGTGTGAAATTCCTCCTGCGTCAGCCAGCGAGCACCTGGTGGTACGGTGGTCACTGGGGTCTGCCCTTCCAAGGCCAGCCCATATACTTGATATGTCAGCTTGATGTGAGAGAAGGTGTGGACAACCTGGAGGAAGGGTCAAGGGGTTCAAATAGGCCTGTGGATATAGCCTCAAAAGCCAACATCCTTGGCTATTCCGCTGCTCACTTACCTCCCCAAGGTGCCGGAGGTGCGTGGCTGGGAGGGGCCCAGCCCAACGCTGTAGTTCCTGCAGCAGGGCCTTGCGCTGAAGCTGCTCTGAGGGCTCCCAGGTCACGGACAGGAACTCCCACAGTCCTGCCAGCAGACCTGAGAGGGAGGGCAGCCAGGCAGGGGTCAGGCCTCAGCTGCCGATTCCCTCCATTCTCTCTTGTTACTCATGCCACTGCCCTCCACGCCCAGTATCCAGGTACCTGAGTTGGGCCTCTGCACCAGCAGAATTTGGGCCCCAAGGGCCCCAGGCTGTTCCAGAACACAGGTGGCAGAGCTCTCCTCCCTGGGGGGCTTGCGGCTGGCCTTTCTGGGGAAGTTGACCACTCCCAGGGTCTGGTCCCAGGGCTCCGAGGGAGGCAGGCACAGGTGGCACTGTCCAGTGTTGGGAGCTGGGAACGGAGATCCCCGAACCCTACTCAAGCCAAGAGGGCTTTAGGGGCCAACCTAGAGAGTGGGCTTTGGCCGGGTTCTGCAGAATCTTACTCAGGTTAGAGGAAGAACTGGAATGGGGCTTCTGACTGGGCCAGGAAGGGTTGGGGTGGGGGCTAGGTTTGGTGCTCACCACACTCCTCCACGTCAGGACTGCCCGACAGGCTCCCTGAGGCTAAGAGCTGTTCCTGCTCCACCTGAGAGGCACAGGGTTGAGTGTCATAGGGCAGAGTCACTCCTTAGGACTTCTCACTGCCCCTTCCCCAGTAGGCTTACTCTCTGGCGTGCCCGGCACAGGCTCTCCACAGGGCACTGGCTGCACAGTGGGCGCTGTGGGGTACACACTGTGGCCCCTAGCTCCATGGCTGCTTGGTTGAAATCTCCTGGCCGGGCTGGGTCCACCAGCTGCTGGGCTAGACCCCTAAAAGAAGGGAACACTGCTGTGAAGCAGAGCTCCTTTGCAGACACCCCTGAAGCACCCTTGTTACCCCAACATCCTACCAGAGCTGCTGGGAAACAAGGGTGCTGCTGGGATCAGCACCAATGGCTCGGACACGGCACAGCACCCGTGCTACGTTGCCATCCACCACACCGGTTGCCTGGCACAGAGGGGCCAAAGAGTTAGCCTGGGCTGGGAGGAAGGAGGCTGGGCACGCACAAAGTGGGGGTGGGCTGTGAGATCACCTGGCCAAAGGCGATAGAGGCAATGGCCCCAGCTGTGTAGCGCCCCACGCCAGGCAGGAGCTGCTGCAGGGTCTCTGCTGTACGTGGCATGTGGCCCCCTAGCTCCTCTACCACCTGATTGGAGTGCAAGACTCAAGATTATAAGACACCCAAGACTCCTGGGTTCCTACCCTCCTGCCATCCCCTTACCTTCCGAGCTCCCTCCTGCAGCCGCCGGCCACGAGAATAGTAGCCCAGGCCAGCCCAGAGTTGATTCACCTCCTGTGGGTAGGATCAGAGGTCAAAGAGATCACCCGTCAGTCCCTCTATTGTTCCTATTTCCCCTACCCTAGGGTGGCTCTCACCTCCAGGGAAGCACTGGCCAGGTCCTGCAGTGTAGGCCACTTCTATAGCCACAGGCAGGCAGAAAGAGACAAGGTCAAGGGTGAAGGTGGTAGAGGAAGCCTTCTCTACACCCACCCCAAAGTAGAGGCTCTCATCTGGGGTCTGACCCATGACCCTTCCCTTCCTCCCCTGGAGTCACCTGCATCCATCCGGTATAGTAGTTGATCACAGTGGCAACCTGGGTCTGCTGCAGCATGACCTCTGAGACCCACACTGGGGGAAAGGGGTTGGCATGAGGACACTGCTGACCTGCCCCTACCTGGCCCACAGCCCCCAGACCCAAGGGCCTCGAGGCAAAGTGGCCCTGCTCTCAGGAGATGTACTGACCAGCATATGCCCGCCTGTCCAGGTCCATCTCATCTTCTGCCTGTCAATGCAACCCCAGATGAGGAGTTAGGGTGGAGGGGGCTGGGTGCCTGCCTCCCACCCACTGTCCCTGCTCCTCGCCTGCCTACCCGTCTTCTCCATGGTAGGTCCCGTTTCTCTTGGTCGTACCAGCTTAGCAGGCTCCCTCGGAAGGCTGTGACTTCAGCTACGTCTCTGAATAGATGGTATGAGGAGACAGAGGCCTGCAATACCACCTCTTCCGGCTGCCTGGCCAGGCCTGCTGGGGCCCCAG
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Task1_train_853
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This genomic variant is located on Chromosome 1, within the MUTYH (mutY DNA glycosylase) gene. Can you determine its pathogenicity and name any linked disease?
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Pathogenic; Familial adenomatous polyposis 2
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GGGAGCAGAGAATCCTCTCCTTGTCCTCTCTCCCTTTCCCCGACTCTACTGATCTAGCTAGGCTTAGCCTGGAATGCTGTAGAGCTTTCATCCTGCCTCAAGTATCTGCCCCATCAATCAACCCTCCAAAAGGCTGCCTGAGGGAATCGAATTGTCCTAAAAATGCAAATCTGACTCCTCTCTCCTCCACCTAAAATGAGTCAGCAGCCTAGGGCTCACACCCTGACTGACCCAGCAGGCCCTGCTGACCTTTCCAGCTAAACCAACTGCTCACAGCTCCTTGAGCACTGCAGCCTGCACTGGGCTCCACCTTTGCTCACACTACTCTTGGGACTGGAAAGAACATCGCTACGGTTGATTCCCCTCCCAAACCTGAAGAAAAGGATTCATTTCTAGGACGAAGATTACCAGCTGCTTCCTCCAAACAGCCTTTCCTGATCCGTCTCCCAATTAGAACTGATAGCTCCCATGGATGGGTGTGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCAAGATGGGCAGATCACTTGAGGTCAGGAGTTCGAGACCAGCCTAGTCAACATGGTGAAACCCTGTCTCTACTAAAAATACAAAAATTAGTTGGGTGTGGTAGCAGGCACCTGTAATCCCAGCTACTTGGGAGACTGAGGCAGGAGAATCGCTTTAATCCAGTTGTGGGAGATTGCAGTGAGCCGAGATCGGGCCACTGCACTCTAGCTTGGGTGACAGTGAGACTGTCTCAAAAAAAAAAAAAAAAAAAAAAAAGAACTGATGGCTCCACAATTCATATCCCACAAAACTCAGTACAGGCATTTCACACACCTGTGACACTGGAGAGTCCTCATCATTTTTTTCCTTTCCCTCTACCCTGCACCCCACAATGGAAGGTCTCCAGGTCAAGAACTATTCCTCCCTCCAGTGAAGCCTGGAGTGGAGAATGTTCACCCAGACATTCGTTAGTTAACTGACTAAAAACCTATGGACTCAGGCCTGGGGAGACACGGTTGGGAGAGGCCTAGGAGACTTACCATACAGGTCCCTGGCTGTTGGCCCTGATACACACGGAAAACCTAGACAAGAAGACAGGGAGGTGAGGGCTGGCACTTTTTGCAAAAGAGATAAACCGGTGTTCTGCCCTTAACTTCATGTCCCAGTACTTTTGTTTAAAATATGCTTTTTTGGCCAGGCATGGTGGCTCACGCCTATAATCCCAGCATTTTGGGAGGCCAAGTCGGGTGGATCACTTGAGGCCAGGAGTTTGAGACCAGCCTGGCCAACATGGTGAAACCCCATCTCTAAAAATACAAAAAATCATGGCTGGGTGTGGTAGCTCACACCTGTAATCCCAGCATTCTGGGAGGCTGAGGCGGGCGGATCACTTGAGGTCAAGAGTTGGAGACCAGCCTGGCCAGCATGGTGAAACCTCATCTCTACTAAAAATACAAAAATTAGCCAGGCATGGTGGCGGGCGCCTGTAATCCGAGCTACTCAGGAAGCTGAGGCAGGAGAATCACTTGAACCCGGGAGATGGAGGTTGCAGTCAACCGAGATAGCGCCATTGCACTCCAGCCTGGGCAACAGAGCGATTCTCCGTCTCAAAAAAAAATGCTTTTTTTCCTGTTTACACAGTAATATATTCATGTAGAACATGTAGGAAACACAAGGAAGTACAACAAAGACAACAAAGGTAGTGCCTTTTTCATGGCGGTGGAAACAGCTGCGGTGTGAAATTCCTCCTGCGTCAGCCAGCGAGCACCTGGTGGTACGGTGGTCACTGGGGTCTGCCCTTCCAAGGCCAGCCCATATACTTGATATGTCAGCTTGATGTGAGAGAAGGTGTGGACAACCTGGAGGAAGGGTCAAGGGGTTCAAATAGGCCTGTGGATATAGCCTCAAAAGCCAACATCCTTGGCTATTCCGCTGCTCACTTACCTCCCCAAGGTGCCGGAGGTGCGTGGCTGGGAGGGGCCCAGCCCAACGCTGTAGTTCCTGCAGCAGGGCCTTGCGCTGAAGCTGCTCTGAGGGCTCCCAGGTCACGGACGGGAACTCCCACAGTCCTGCCAGCAGACCTGAGAGGGAGGGCAGCCAGGCAGGGGTCAGGCCTCAGCTGCCGATTCCCTCCATTCTCTCTTGTTACTCATGCCACTGCCCTCCACGCCCAGTATCCAGGTACCTGAGTTGGGCCTCTGCACCAGCAGAATTTGGGCCCCAAGGGCCCCAGGCTGTTCCAGAACACAGGTGGCAGAGCTCTCCTCCCTGGGGGGCTTGCGGCTGGCCTTTCTGGGGAAGTTGACCACTCCCAGGGTCTGGTCCCAGGGCTCCGAGGGAGGCAGGCACAGGTGGCACTGTCCAGTGTTGGGAGCTGGGAACGGAGATCCCCGAACCCTACTCAAGCCAAGAGGGCTTTAGGGGCCAACCTAGAGAGTGGGCTTTGGCCGGGTTCTGCAGAATCTTACTCAGGTTAGAGGAAGAACTGGAATGGGGCTTCTGACTGGGCCAGGAAGGGTTGGGGTGGGGGCTAGGTTTGGTGCTCACCACACTCCTCCACGTCAGGACTGCCCGACAGGCTCCCTGAGGCTAAGAGCTGTTCCTGCTCCACCTGAGAGGCACAGGGTTGAGTGTCATAGGGCAGAGTCACTCCTTAGGACTTCTCACTGCCCCTTCCCCAGTAGGCTTACTCTCTGGCGTGCCCGGCACAGGCTCTCCACAGGGCACTGGCTGCACAGTGGGCGCTGTGGGGTACACACTGTGGCCCCTAGCTCCATGGCTGCTTGGTTGAAATCTCCTGGCCGGGCTGGGTCCACCAGCTGCTGGGCTAGACCCCTAAAAGAAGGGAACACTGCTGTGAAGCAGAGCTCCTTTGCAGACACCCCTGAAGCACCCTTGTTACCCCAACATCCTACCAGAGCTGCTGGGAAACAAGGGTGCTGCTGGGATCAGCACCAATGGCTCGGACACGGCACAGCACCCGTGCTACGTTGCCATCCACCACACCGGTTGCCTGGCACAGAGGGGCCAAAGAGTTAGCCTGGGCTGGGAGGAAGGAGGCTGGGCACGCACAAAGTGGGGGTGGGCTGTGAGATCACCTGGCCAAAGGCGATAGAGGCAATGGCCCCAGCTGTGTAGCGCCCCACGCCAGGCAGGAGCTGCTGCAGGGTCTCTGCTGTACGTGGCATGTGGCCCCCTAGCTCCTCTACCACCTGATTGGAGTGCAAGACTCAAGATTATAAGACACCCAAGACTCCTGGGTTCCTACCCTCCTGCCATCCCCTTACCTTCCGAGCTCCCTCCTGCAGCCGCCGGCCACGAGAATAGTAGCCCAGGCCAGCCCAGAGTTGATTCACCTCCTGTGGGTAGGATCAGAGGTCAAAGAGATCACCCGTCAGTCCCTCTATTGTTCCTATTTCCCCTACCCTAGGGTGGCTCTCACCTCCAGGGAAGCACTGGCCAGGTCCTGCAGTGTAGGCCACTTCTATAGCCACAGGCAGGCAGAAAGAGACAAGGTCAAGGGTGAAGGTGGTAGAGGAAGCCTTCTCTACACCCACCCCAAAGTAGAGGCTCTCATCTGGGGTCTGACCCATGACCCTTCCCTTCCTCCCCTGGAGTCACCTGCATCCATCCGGTATAGTAGTTGATCACAGTGGCAACCTGGGTCTGCTGCAGCATGACCTCTGAGACCCACACTGGGGGAAAGGGGTTGGCATGAGGACACTGCTGACCTGCCCCTACCTGGCCCACAGCCCCCAGACCCAAGGGCCTCGAGGCAAAGTGGCCCTGCTCTCAGGAGATGTACTGACCAGCATATGCCCGCCTGTCCAGGTCCATCTCATCTTCTGCCTGTCAATGCAACCCCAGATGAGGAGTTAGGGTGGAGGGGGCTGGGTGCCTGCCTCCCACCCACTGTCCCTGCTCCTCGCCTGCCTACCCGTCTTCTCCATGGTAGGTCCCGTTTCTCTTGGTCGTACCAGCTTAGCAGGCTCCCTCGGAAGGCTGTGACTTCAGCTACGTCTCTGAATAGATGGTATGAGGAGACAGAGGCCTGCAATACCACCTCTTCCGGCTGCCTGGCCAGGCCTGCTGGGGCCCCAG
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GGGAGCAGAGAATCCTCTCCTTGTCCTCTCTCCCTTTCCCCGACTCTACTGATCTAGCTAGGCTTAGCCTGGAATGCTGTAGAGCTTTCATCCTGCCTCAAGTATCTGCCCCATCAATCAACCCTCCAAAAGGCTGCCTGAGGGAATCGAATTGTCCTAAAAATGCAAATCTGACTCCTCTCTCCTCCACCTAAAATGAGTCAGCAGCCTAGGGCTCACACCCTGACTGACCCAGCAGGCCCTGCTGACCTTTCCAGCTAAACCAACTGCTCACAGCTCCTTGAGCACTGCAGCCTGCACTGGGCTCCACCTTTGCTCACACTACTCTTGGGACTGGAAAGAACATCGCTACGGTTGATTCCCCTCCCAAACCTGAAGAAAAGGATTCATTTCTAGGACGAAGATTACCAGCTGCTTCCTCCAAACAGCCTTTCCTGATCCGTCTCCCAATTAGAACTGATAGCTCCCATGGATGGGTGTGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCAAGATGGGCAGATCACTTGAGGTCAGGAGTTCGAGACCAGCCTAGTCAACATGGTGAAACCCTGTCTCTACTAAAAATACAAAAATTAGTTGGGTGTGGTAGCAGGCACCTGTAATCCCAGCTACTTGGGAGACTGAGGCAGGAGAATCGCTTTAATCCAGTTGTGGGAGATTGCAGTGAGCCGAGATCGGGCCACTGCACTCTAGCTTGGGTGACAGTGAGACTGTCTCAAAAAAAAAAAAAAAAAAAAAAAAGAACTGATGGCTCCACAATTCATATCCCACAAAACTCAGTACAGGCATTTCACACACCTGTGACACTGGAGAGTCCTCATCATTTTTTTCCTTTCCCTCTACCCTGCACCCCACAATGGAAGGTCTCCAGGTCAAGAACTATTCCTCCCTCCAGTGAAGCCTGGAGTGGAGAATGTTCACCCAGACATTCGTTAGTTAACTGACTAAAAACCTATGGACTCAGGCCTGGGGAGACACGGTTGGGAGAGGCCTAGGAGACTTACCATACAGGTCCCTGGCTGTTGGCCCTGATACACACGGAAAACCTAGACAAGAAGACAGGGAGGTGAGGGCTGGCACTTTTTGCAAAAGAGATAAACCGGTGTTCTGCCCTTAACTTCATGTCCCAGTACTTTTGTTTAAAATATGCTTTTTTGGCCAGGCATGGTGGCTCACGCCTATAATCCCAGCATTTTGGGAGGCCAAGTCGGGTGGATCACTTGAGGCCAGGAGTTTGAGACCAGCCTGGCCAACATGGTGAAACCCCATCTCTAAAAATACAAAAAATCATGGCTGGGTGTGGTAGCTCACACCTGTAATCCCAGCATTCTGGGAGGCTGAGGCGGGCGGATCACTTGAGGTCAAGAGTTGGAGACCAGCCTGGCCAGCATGGTGAAACCTCATCTCTACTAAAAATACAAAAATTAGCCAGGCATGGTGGCGGGCGCCTGTAATCCGAGCTACTCAGGAAGCTGAGGCAGGAGAATCACTTGAACCCGGGAGATGGAGGTTGCAGTCAACCGAGATAGCGCCATTGCACTCCAGCCTGGGCAACAGAGCGATTCTCCGTCTCAAAAAAAAATGCTTTTTTTCCTGTTTACACAGTAATATATTCATGTAGAACATGTAGGAAACACAAGGAAGTACAACAAAGACAACAAAGGTAGTGCCTTTTTCATGGCGGTGGAAACAGCTGCGGTGTGAAATTCCTCCTGCGTCAGCCAGCGAGCACCTGGTGGTACGGTGGTCACTGGGGTCTGCCCTTCCAAGGCCAGCCCATATACTTGATATGTCAGCTTGATGTGAGAGAAGGTGTGGACAACCTGGAGGAAGGGTCAAGGGGTTCAAATAGGCCTGTGGATATAGCCTCAAAAGCCAACATCCTTGGCTATTCCGCTGCTCACTTACCTCCCCAAGGTGCCGGAGGTGCGTGGCTGGGAGGGGCCCAGCCCAACGCTGTAGTTCCTGCAGCAGGGCCTTGCGCTGAAGCTGCTCTGAGGGCTCCCAGGTCACGGACAGGAACTCCCACAGTCCTGCCAGCAGACCTGAGAGGGAGGGCAGCCAGGCAGGGGTCAGGCCTCAGCTGCCGATTCCCTCCATTCTCTCTTGTTACTCATGCCACTGCCCTCCACGCCCAGTATCCAGGTACCTGAGTTGGGCCTCTGCACCAGCAGAATTTGGGCCCCAAGGGCCCCAGGCTGTTCCAGAACACAGGTGGCAGAGCTCTCCTCCCTGGGGGGCTTGCGGCTGGCCTTTCTGGGGAAGTTGACCACTCCCAGGGTCTGGTCCCAGGGCTCCGAGGGAGGCAGGCACAGGTGGCACTGTCCAGTGTTGGGAGCTGGGAACGGAGATCCCCGAACCCTACTCAAGCCAAGAGGGCTTTAGGGGCCAACCTAGAGAGTGGGCTTTGGCCGGGTTCTGCAGAATCTTACTCAGGTTAGAGGAAGAACTGGAATGGGGCTTCTGACTGGGCCAGGAAGGGTTGGGGTGGGGGCTAGGTTTGGTGCTCACCACACTCCTCCACGTCAGGACTGCCCGACAGGCTCCCTGAGGCTAAGAGCTGTTCCTGCTCCACCTGAGAGGCACAGGGTTGAGTGTCATAGGGCAGAGTCACTCCTTAGGACTTCTCACTGCCCCTTCCCCAGTAGGCTTACTCTCTGGCGTGCCCGGCACAGGCTCTCCACAGGGCACTGGCTGCACAGTGGGCGCTGTGGGGTACACACTGTGGCCCCTAGCTCCATGGCTGCTTGGTTGAAATCTCCTGGCCGGGCTGGGTCCACCAGCTGCTGGGCTAGACCCCTAAAAGAAGGGAACACTGCTGTGAAGCAGAGCTCCTTTGCAGACACCCCTGAAGCACCCTTGTTACCCCAACATCCTACCAGAGCTGCTGGGAAACAAGGGTGCTGCTGGGATCAGCACCAATGGCTCGGACACGGCACAGCACCCGTGCTACGTTGCCATCCACCACACCGGTTGCCTGGCACAGAGGGGCCAAAGAGTTAGCCTGGGCTGGGAGGAAGGAGGCTGGGCACGCACAAAGTGGGGGTGGGCTGTGAGATCACCTGGCCAAAGGCGATAGAGGCAATGGCCCCAGCTGTGTAGCGCCCCACGCCAGGCAGGAGCTGCTGCAGGGTCTCTGCTGTACGTGGCATGTGGCCCCCTAGCTCCTCTACCACCTGATTGGAGTGCAAGACTCAAGATTATAAGACACCCAAGACTCCTGGGTTCCTACCCTCCTGCCATCCCCTTACCTTCCGAGCTCCCTCCTGCAGCCGCCGGCCACGAGAATAGTAGCCCAGGCCAGCCCAGAGTTGATTCACCTCCTGTGGGTAGGATCAGAGGTCAAAGAGATCACCCGTCAGTCCCTCTATTGTTCCTATTTCCCCTACCCTAGGGTGGCTCTCACCTCCAGGGAAGCACTGGCCAGGTCCTGCAGTGTAGGCCACTTCTATAGCCACAGGCAGGCAGAAAGAGACAAGGTCAAGGGTGAAGGTGGTAGAGGAAGCCTTCTCTACACCCACCCCAAAGTAGAGGCTCTCATCTGGGGTCTGACCCATGACCCTTCCCTTCCTCCCCTGGAGTCACCTGCATCCATCCGGTATAGTAGTTGATCACAGTGGCAACCTGGGTCTGCTGCAGCATGACCTCTGAGACCCACACTGGGGGAAAGGGGTTGGCATGAGGACACTGCTGACCTGCCCCTACCTGGCCCACAGCCCCCAGACCCAAGGGCCTCGAGGCAAAGTGGCCCTGCTCTCAGGAGATGTACTGACCAGCATATGCCCGCCTGTCCAGGTCCATCTCATCTTCTGCCTGTCAATGCAACCCCAGATGAGGAGTTAGGGTGGAGGGGGCTGGGTGCCTGCCTCCCACCCACTGTCCCTGCTCCTCGCCTGCCTACCCGTCTTCTCCATGGTAGGTCCCGTTTCTCTTGGTCGTACCAGCTTAGCAGGCTCCCTCGGAAGGCTGTGACTTCAGCTACGTCTCTGAATAGATGGTATGAGGAGACAGAGGCCTGCAATACCACCTCTTCCGGCTGCCTGGCCAGGCCTGCTGGGGCCCCAG
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Task1_train_854
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This genomic variant is located on Chromosome 1, within the MUTYH (mutY DNA glycosylase) gene. Can you determine its pathogenicity and name any linked disease?
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Pathogenic; Hereditary cancer-predisposing syndrome
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GGGAGCAGAGAATCCTCTCCTTGTCCTCTCTCCCTTTCCCCGACTCTACTGATCTAGCTAGGCTTAGCCTGGAATGCTGTAGAGCTTTCATCCTGCCTCAAGTATCTGCCCCATCAATCAACCCTCCAAAAGGCTGCCTGAGGGAATCGAATTGTCCTAAAAATGCAAATCTGACTCCTCTCTCCTCCACCTAAAATGAGTCAGCAGCCTAGGGCTCACACCCTGACTGACCCAGCAGGCCCTGCTGACCTTTCCAGCTAAACCAACTGCTCACAGCTCCTTGAGCACTGCAGCCTGCACTGGGCTCCACCTTTGCTCACACTACTCTTGGGACTGGAAAGAACATCGCTACGGTTGATTCCCCTCCCAAACCTGAAGAAAAGGATTCATTTCTAGGACGAAGATTACCAGCTGCTTCCTCCAAACAGCCTTTCCTGATCCGTCTCCCAATTAGAACTGATAGCTCCCATGGATGGGTGTGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCAAGATGGGCAGATCACTTGAGGTCAGGAGTTCGAGACCAGCCTAGTCAACATGGTGAAACCCTGTCTCTACTAAAAATACAAAAATTAGTTGGGTGTGGTAGCAGGCACCTGTAATCCCAGCTACTTGGGAGACTGAGGCAGGAGAATCGCTTTAATCCAGTTGTGGGAGATTGCAGTGAGCCGAGATCGGGCCACTGCACTCTAGCTTGGGTGACAGTGAGACTGTCTCAAAAAAAAAAAAAAAAAAAAAAAAGAACTGATGGCTCCACAATTCATATCCCACAAAACTCAGTACAGGCATTTCACACACCTGTGACACTGGAGAGTCCTCATCATTTTTTTCCTTTCCCTCTACCCTGCACCCCACAATGGAAGGTCTCCAGGTCAAGAACTATTCCTCCCTCCAGTGAAGCCTGGAGTGGAGAATGTTCACCCAGACATTCGTTAGTTAACTGACTAAAAACCTATGGACTCAGGCCTGGGGAGACACGGTTGGGAGAGGCCTAGGAGACTTACCATACAGGTCCCTGGCTGTTGGCCCTGATACACACGGAAAACCTAGACAAGAAGACAGGGAGGTGAGGGCTGGCACTTTTTGCAAAAGAGATAAACCGGTGTTCTGCCCTTAACTTCATGTCCCAGTACTTTTGTTTAAAATATGCTTTTTTGGCCAGGCATGGTGGCTCACGCCTATAATCCCAGCATTTTGGGAGGCCAAGTCGGGTGGATCACTTGAGGCCAGGAGTTTGAGACCAGCCTGGCCAACATGGTGAAACCCCATCTCTAAAAATACAAAAAATCATGGCTGGGTGTGGTAGCTCACACCTGTAATCCCAGCATTCTGGGAGGCTGAGGCGGGCGGATCACTTGAGGTCAAGAGTTGGAGACCAGCCTGGCCAGCATGGTGAAACCTCATCTCTACTAAAAATACAAAAATTAGCCAGGCATGGTGGCGGGCGCCTGTAATCCGAGCTACTCAGGAAGCTGAGGCAGGAGAATCACTTGAACCCGGGAGATGGAGGTTGCAGTCAACCGAGATAGCGCCATTGCACTCCAGCCTGGGCAACAGAGCGATTCTCCGTCTCAAAAAAAAATGCTTTTTTTCCTGTTTACACAGTAATATATTCATGTAGAACATGTAGGAAACACAAGGAAGTACAACAAAGACAACAAAGGTAGTGCCTTTTTCATGGCGGTGGAAACAGCTGCGGTGTGAAATTCCTCCTGCGTCAGCCAGCGAGCACCTGGTGGTACGGTGGTCACTGGGGTCTGCCCTTCCAAGGCCAGCCCATATACTTGATATGTCAGCTTGATGTGAGAGAAGGTGTGGACAACCTGGAGGAAGGGTCAAGGGGTTCAAATAGGCCTGTGGATATAGCCTCAAAAGCCAACATCCTTGGCTATTCCGCTGCTCACTTACCTCCCCAAGGTGCCGGAGGTGCGTGGCTGGGAGGGGCCCAGCCCAACGCTGTAGTTCCTGCAGCAGGGCCTTGCGCTGAAGCTGCTCTGAGGGCTCCCAGGTCACGGACGGGAACTCCCACAGTCCTGCCAGCAGACCTGAGAGGGAGGGCAGCCAGGCAGGGGTCAGGCCTCAGCTGCCGATTCCCTCCATTCTCTCTTGTTACTCATGCCACTGCCCTCCACGCCCAGTATCCAGGTACCTGAGTTGGGCCTCTGCACCAGCAGAATTTGGGCCCCAAGGGCCCCAGGCTGTTCCAGAACACAGGTGGCAGAGCTCTCCTCCCTGGGGGGCTTGCGGCTGGCCTTTCTGGGGAAGTTGACCACTCCCAGGGTCTGGTCCCAGGGCTCCGAGGGAGGCAGGCACAGGTGGCACTGTCCAGTGTTGGGAGCTGGGAACGGAGATCCCCGAACCCTACTCAAGCCAAGAGGGCTTTAGGGGCCAACCTAGAGAGTGGGCTTTGGCCGGGTTCTGCAGAATCTTACTCAGGTTAGAGGAAGAACTGGAATGGGGCTTCTGACTGGGCCAGGAAGGGTTGGGGTGGGGGCTAGGTTTGGTGCTCACCACACTCCTCCACGTCAGGACTGCCCGACAGGCTCCCTGAGGCTAAGAGCTGTTCCTGCTCCACCTGAGAGGCACAGGGTTGAGTGTCATAGGGCAGAGTCACTCCTTAGGACTTCTCACTGCCCCTTCCCCAGTAGGCTTACTCTCTGGCGTGCCCGGCACAGGCTCTCCACAGGGCACTGGCTGCACAGTGGGCGCTGTGGGGTACACACTGTGGCCCCTAGCTCCATGGCTGCTTGGTTGAAATCTCCTGGCCGGGCTGGGTCCACCAGCTGCTGGGCTAGACCCCTAAAAGAAGGGAACACTGCTGTGAAGCAGAGCTCCTTTGCAGACACCCCTGAAGCACCCTTGTTACCCCAACATCCTACCAGAGCTGCTGGGAAACAAGGGTGCTGCTGGGATCAGCACCAATGGCTCGGACACGGCACAGCACCCGTGCTACGTTGCCATCCACCACACCGGTTGCCTGGCACAGAGGGGCCAAAGAGTTAGCCTGGGCTGGGAGGAAGGAGGCTGGGCACGCACAAAGTGGGGGTGGGCTGTGAGATCACCTGGCCAAAGGCGATAGAGGCAATGGCCCCAGCTGTGTAGCGCCCCACGCCAGGCAGGAGCTGCTGCAGGGTCTCTGCTGTACGTGGCATGTGGCCCCCTAGCTCCTCTACCACCTGATTGGAGTGCAAGACTCAAGATTATAAGACACCCAAGACTCCTGGGTTCCTACCCTCCTGCCATCCCCTTACCTTCCGAGCTCCCTCCTGCAGCCGCCGGCCACGAGAATAGTAGCCCAGGCCAGCCCAGAGTTGATTCACCTCCTGTGGGTAGGATCAGAGGTCAAAGAGATCACCCGTCAGTCCCTCTATTGTTCCTATTTCCCCTACCCTAGGGTGGCTCTCACCTCCAGGGAAGCACTGGCCAGGTCCTGCAGTGTAGGCCACTTCTATAGCCACAGGCAGGCAGAAAGAGACAAGGTCAAGGGTGAAGGTGGTAGAGGAAGCCTTCTCTACACCCACCCCAAAGTAGAGGCTCTCATCTGGGGTCTGACCCATGACCCTTCCCTTCCTCCCCTGGAGTCACCTGCATCCATCCGGTATAGTAGTTGATCACAGTGGCAACCTGGGTCTGCTGCAGCATGACCTCTGAGACCCACACTGGGGGAAAGGGGTTGGCATGAGGACACTGCTGACCTGCCCCTACCTGGCCCACAGCCCCCAGACCCAAGGGCCTCGAGGCAAAGTGGCCCTGCTCTCAGGAGATGTACTGACCAGCATATGCCCGCCTGTCCAGGTCCATCTCATCTTCTGCCTGTCAATGCAACCCCAGATGAGGAGTTAGGGTGGAGGGGGCTGGGTGCCTGCCTCCCACCCACTGTCCCTGCTCCTCGCCTGCCTACCCGTCTTCTCCATGGTAGGTCCCGTTTCTCTTGGTCGTACCAGCTTAGCAGGCTCCCTCGGAAGGCTGTGACTTCAGCTACGTCTCTGAATAGATGGTATGAGGAGACAGAGGCCTGCAATACCACCTCTTCCGGCTGCCTGGCCAGGCCTGCTGGGGCCCCAG
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GGGAGCAGAGAATCCTCTCCTTGTCCTCTCTCCCTTTCCCCGACTCTACTGATCTAGCTAGGCTTAGCCTGGAATGCTGTAGAGCTTTCATCCTGCCTCAAGTATCTGCCCCATCAATCAACCCTCCAAAAGGCTGCCTGAGGGAATCGAATTGTCCTAAAAATGCAAATCTGACTCCTCTCTCCTCCACCTAAAATGAGTCAGCAGCCTAGGGCTCACACCCTGACTGACCCAGCAGGCCCTGCTGACCTTTCCAGCTAAACCAACTGCTCACAGCTCCTTGAGCACTGCAGCCTGCACTGGGCTCCACCTTTGCTCACACTACTCTTGGGACTGGAAAGAACATCGCTACGGTTGATTCCCCTCCCAAACCTGAAGAAAAGGATTCATTTCTAGGACGAAGATTACCAGCTGCTTCCTCCAAACAGCCTTTCCTGATCCGTCTCCCAATTAGAACTGATAGCTCCCATGGATGGGTGTGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCAAGATGGGCAGATCACTTGAGGTCAGGAGTTCGAGACCAGCCTAGTCAACATGGTGAAACCCTGTCTCTACTAAAAATACAAAAATTAGTTGGGTGTGGTAGCAGGCACCTGTAATCCCAGCTACTTGGGAGACTGAGGCAGGAGAATCGCTTTAATCCAGTTGTGGGAGATTGCAGTGAGCCGAGATCGGGCCACTGCACTCTAGCTTGGGTGACAGTGAGACTGTCTCAAAAAAAAAAAAAAAAAAAAAAAAGAACTGATGGCTCCACAATTCATATCCCACAAAACTCAGTACAGGCATTTCACACACCTGTGACACTGGAGAGTCCTCATCATTTTTTTCCTTTCCCTCTACCCTGCACCCCACAATGGAAGGTCTCCAGGTCAAGAACTATTCCTCCCTCCAGTGAAGCCTGGAGTGGAGAATGTTCACCCAGACATTCGTTAGTTAACTGACTAAAAACCTATGGACTCAGGCCTGGGGAGACACGGTTGGGAGAGGCCTAGGAGACTTACCATACAGGTCCCTGGCTGTTGGCCCTGATACACACGGAAAACCTAGACAAGAAGACAGGGAGGTGAGGGCTGGCACTTTTTGCAAAAGAGATAAACCGGTGTTCTGCCCTTAACTTCATGTCCCAGTACTTTTGTTTAAAATATGCTTTTTTGGCCAGGCATGGTGGCTCACGCCTATAATCCCAGCATTTTGGGAGGCCAAGTCGGGTGGATCACTTGAGGCCAGGAGTTTGAGACCAGCCTGGCCAACATGGTGAAACCCCATCTCTAAAAATACAAAAAATCATGGCTGGGTGTGGTAGCTCACACCTGTAATCCCAGCATTCTGGGAGGCTGAGGCGGGCGGATCACTTGAGGTCAAGAGTTGGAGACCAGCCTGGCCAGCATGGTGAAACCTCATCTCTACTAAAAATACAAAAATTAGCCAGGCATGGTGGCGGGCGCCTGTAATCCGAGCTACTCAGGAAGCTGAGGCAGGAGAATCACTTGAACCCGGGAGATGGAGGTTGCAGTCAACCGAGATAGCGCCATTGCACTCCAGCCTGGGCAACAGAGCGATTCTCCGTCTCAAAAAAAAATGCTTTTTTTCCTGTTTACACAGTAATATATTCATGTAGAACATGTAGGAAACACAAGGAAGTACAACAAAGACAACAAAGGTAGTGCCTTTTTCATGGCGGTGGAAACAGCTGCGGTGTGAAATTCCTCCTGCGTCAGCCAGCGAGCACCTGGTGGTACGGTGGTCACTGGGGTCTGCCCTTCCAAGGCCAGCCCATATACTTGATATGTCAGCTTGATGTGAGAGAAGGTGTGGACAACCTGGAGGAAGGGTCAAGGGGTTCAAATAGGCCTGTGGATATAGCCTCAAAAGCCAACATCCTTGGCTATTCCGCTGCTCACTTACCTCCCCAAGGTGCCGGAGGTGCGTGGCTGGGAGGGGCCCAGCCCAACGCTGTAGTTCCTGCAGCAGGGCCTTGCGCTGAAGCTGCTCTGAGGGCTCCCAGGTCACGGACAGGAACTCCCACAGTCCTGCCAGCAGACCTGAGAGGGAGGGCAGCCAGGCAGGGGTCAGGCCTCAGCTGCCGATTCCCTCCATTCTCTCTTGTTACTCATGCCACTGCCCTCCACGCCCAGTATCCAGGTACCTGAGTTGGGCCTCTGCACCAGCAGAATTTGGGCCCCAAGGGCCCCAGGCTGTTCCAGAACACAGGTGGCAGAGCTCTCCTCCCTGGGGGGCTTGCGGCTGGCCTTTCTGGGGAAGTTGACCACTCCCAGGGTCTGGTCCCAGGGCTCCGAGGGAGGCAGGCACAGGTGGCACTGTCCAGTGTTGGGAGCTGGGAACGGAGATCCCCGAACCCTACTCAAGCCAAGAGGGCTTTAGGGGCCAACCTAGAGAGTGGGCTTTGGCCGGGTTCTGCAGAATCTTACTCAGGTTAGAGGAAGAACTGGAATGGGGCTTCTGACTGGGCCAGGAAGGGTTGGGGTGGGGGCTAGGTTTGGTGCTCACCACACTCCTCCACGTCAGGACTGCCCGACAGGCTCCCTGAGGCTAAGAGCTGTTCCTGCTCCACCTGAGAGGCACAGGGTTGAGTGTCATAGGGCAGAGTCACTCCTTAGGACTTCTCACTGCCCCTTCCCCAGTAGGCTTACTCTCTGGCGTGCCCGGCACAGGCTCTCCACAGGGCACTGGCTGCACAGTGGGCGCTGTGGGGTACACACTGTGGCCCCTAGCTCCATGGCTGCTTGGTTGAAATCTCCTGGCCGGGCTGGGTCCACCAGCTGCTGGGCTAGACCCCTAAAAGAAGGGAACACTGCTGTGAAGCAGAGCTCCTTTGCAGACACCCCTGAAGCACCCTTGTTACCCCAACATCCTACCAGAGCTGCTGGGAAACAAGGGTGCTGCTGGGATCAGCACCAATGGCTCGGACACGGCACAGCACCCGTGCTACGTTGCCATCCACCACACCGGTTGCCTGGCACAGAGGGGCCAAAGAGTTAGCCTGGGCTGGGAGGAAGGAGGCTGGGCACGCACAAAGTGGGGGTGGGCTGTGAGATCACCTGGCCAAAGGCGATAGAGGCAATGGCCCCAGCTGTGTAGCGCCCCACGCCAGGCAGGAGCTGCTGCAGGGTCTCTGCTGTACGTGGCATGTGGCCCCCTAGCTCCTCTACCACCTGATTGGAGTGCAAGACTCAAGATTATAAGACACCCAAGACTCCTGGGTTCCTACCCTCCTGCCATCCCCTTACCTTCCGAGCTCCCTCCTGCAGCCGCCGGCCACGAGAATAGTAGCCCAGGCCAGCCCAGAGTTGATTCACCTCCTGTGGGTAGGATCAGAGGTCAAAGAGATCACCCGTCAGTCCCTCTATTGTTCCTATTTCCCCTACCCTAGGGTGGCTCTCACCTCCAGGGAAGCACTGGCCAGGTCCTGCAGTGTAGGCCACTTCTATAGCCACAGGCAGGCAGAAAGAGACAAGGTCAAGGGTGAAGGTGGTAGAGGAAGCCTTCTCTACACCCACCCCAAAGTAGAGGCTCTCATCTGGGGTCTGACCCATGACCCTTCCCTTCCTCCCCTGGAGTCACCTGCATCCATCCGGTATAGTAGTTGATCACAGTGGCAACCTGGGTCTGCTGCAGCATGACCTCTGAGACCCACACTGGGGGAAAGGGGTTGGCATGAGGACACTGCTGACCTGCCCCTACCTGGCCCACAGCCCCCAGACCCAAGGGCCTCGAGGCAAAGTGGCCCTGCTCTCAGGAGATGTACTGACCAGCATATGCCCGCCTGTCCAGGTCCATCTCATCTTCTGCCTGTCAATGCAACCCCAGATGAGGAGTTAGGGTGGAGGGGGCTGGGTGCCTGCCTCCCACCCACTGTCCCTGCTCCTCGCCTGCCTACCCGTCTTCTCCATGGTAGGTCCCGTTTCTCTTGGTCGTACCAGCTTAGCAGGCTCCCTCGGAAGGCTGTGACTTCAGCTACGTCTCTGAATAGATGGTATGAGGAGACAGAGGCCTGCAATACCACCTCTTCCGGCTGCCTGGCCAGGCCTGCTGGGGCCCCAG
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Task1_train_855
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A mutation found in MUTYH (mutY DNA glycosylase) on Chromosome 1 may be clinically relevant. Is it pathogenic or benign, and if the former, which disease is implicated?
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Pathogenic; B lymphoblastic leukemia lymphoma, no ICD-O subtype
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GGGAGCAGAGAATCCTCTCCTTGTCCTCTCTCCCTTTCCCCGACTCTACTGATCTAGCTAGGCTTAGCCTGGAATGCTGTAGAGCTTTCATCCTGCCTCAAGTATCTGCCCCATCAATCAACCCTCCAAAAGGCTGCCTGAGGGAATCGAATTGTCCTAAAAATGCAAATCTGACTCCTCTCTCCTCCACCTAAAATGAGTCAGCAGCCTAGGGCTCACACCCTGACTGACCCAGCAGGCCCTGCTGACCTTTCCAGCTAAACCAACTGCTCACAGCTCCTTGAGCACTGCAGCCTGCACTGGGCTCCACCTTTGCTCACACTACTCTTGGGACTGGAAAGAACATCGCTACGGTTGATTCCCCTCCCAAACCTGAAGAAAAGGATTCATTTCTAGGACGAAGATTACCAGCTGCTTCCTCCAAACAGCCTTTCCTGATCCGTCTCCCAATTAGAACTGATAGCTCCCATGGATGGGTGTGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCAAGATGGGCAGATCACTTGAGGTCAGGAGTTCGAGACCAGCCTAGTCAACATGGTGAAACCCTGTCTCTACTAAAAATACAAAAATTAGTTGGGTGTGGTAGCAGGCACCTGTAATCCCAGCTACTTGGGAGACTGAGGCAGGAGAATCGCTTTAATCCAGTTGTGGGAGATTGCAGTGAGCCGAGATCGGGCCACTGCACTCTAGCTTGGGTGACAGTGAGACTGTCTCAAAAAAAAAAAAAAAAAAAAAAAAGAACTGATGGCTCCACAATTCATATCCCACAAAACTCAGTACAGGCATTTCACACACCTGTGACACTGGAGAGTCCTCATCATTTTTTTCCTTTCCCTCTACCCTGCACCCCACAATGGAAGGTCTCCAGGTCAAGAACTATTCCTCCCTCCAGTGAAGCCTGGAGTGGAGAATGTTCACCCAGACATTCGTTAGTTAACTGACTAAAAACCTATGGACTCAGGCCTGGGGAGACACGGTTGGGAGAGGCCTAGGAGACTTACCATACAGGTCCCTGGCTGTTGGCCCTGATACACACGGAAAACCTAGACAAGAAGACAGGGAGGTGAGGGCTGGCACTTTTTGCAAAAGAGATAAACCGGTGTTCTGCCCTTAACTTCATGTCCCAGTACTTTTGTTTAAAATATGCTTTTTTGGCCAGGCATGGTGGCTCACGCCTATAATCCCAGCATTTTGGGAGGCCAAGTCGGGTGGATCACTTGAGGCCAGGAGTTTGAGACCAGCCTGGCCAACATGGTGAAACCCCATCTCTAAAAATACAAAAAATCATGGCTGGGTGTGGTAGCTCACACCTGTAATCCCAGCATTCTGGGAGGCTGAGGCGGGCGGATCACTTGAGGTCAAGAGTTGGAGACCAGCCTGGCCAGCATGGTGAAACCTCATCTCTACTAAAAATACAAAAATTAGCCAGGCATGGTGGCGGGCGCCTGTAATCCGAGCTACTCAGGAAGCTGAGGCAGGAGAATCACTTGAACCCGGGAGATGGAGGTTGCAGTCAACCGAGATAGCGCCATTGCACTCCAGCCTGGGCAACAGAGCGATTCTCCGTCTCAAAAAAAAATGCTTTTTTTCCTGTTTACACAGTAATATATTCATGTAGAACATGTAGGAAACACAAGGAAGTACAACAAAGACAACAAAGGTAGTGCCTTTTTCATGGCGGTGGAAACAGCTGCGGTGTGAAATTCCTCCTGCGTCAGCCAGCGAGCACCTGGTGGTACGGTGGTCACTGGGGTCTGCCCTTCCAAGGCCAGCCCATATACTTGATATGTCAGCTTGATGTGAGAGAAGGTGTGGACAACCTGGAGGAAGGGTCAAGGGGTTCAAATAGGCCTGTGGATATAGCCTCAAAAGCCAACATCCTTGGCTATTCCGCTGCTCACTTACCTCCCCAAGGTGCCGGAGGTGCGTGGCTGGGAGGGGCCCAGCCCAACGCTGTAGTTCCTGCAGCAGGGCCTTGCGCTGAAGCTGCTCTGAGGGCTCCCAGGTCACGGACGGGAACTCCCACAGTCCTGCCAGCAGACCTGAGAGGGAGGGCAGCCAGGCAGGGGTCAGGCCTCAGCTGCCGATTCCCTCCATTCTCTCTTGTTACTCATGCCACTGCCCTCCACGCCCAGTATCCAGGTACCTGAGTTGGGCCTCTGCACCAGCAGAATTTGGGCCCCAAGGGCCCCAGGCTGTTCCAGAACACAGGTGGCAGAGCTCTCCTCCCTGGGGGGCTTGCGGCTGGCCTTTCTGGGGAAGTTGACCACTCCCAGGGTCTGGTCCCAGGGCTCCGAGGGAGGCAGGCACAGGTGGCACTGTCCAGTGTTGGGAGCTGGGAACGGAGATCCCCGAACCCTACTCAAGCCAAGAGGGCTTTAGGGGCCAACCTAGAGAGTGGGCTTTGGCCGGGTTCTGCAGAATCTTACTCAGGTTAGAGGAAGAACTGGAATGGGGCTTCTGACTGGGCCAGGAAGGGTTGGGGTGGGGGCTAGGTTTGGTGCTCACCACACTCCTCCACGTCAGGACTGCCCGACAGGCTCCCTGAGGCTAAGAGCTGTTCCTGCTCCACCTGAGAGGCACAGGGTTGAGTGTCATAGGGCAGAGTCACTCCTTAGGACTTCTCACTGCCCCTTCCCCAGTAGGCTTACTCTCTGGCGTGCCCGGCACAGGCTCTCCACAGGGCACTGGCTGCACAGTGGGCGCTGTGGGGTACACACTGTGGCCCCTAGCTCCATGGCTGCTTGGTTGAAATCTCCTGGCCGGGCTGGGTCCACCAGCTGCTGGGCTAGACCCCTAAAAGAAGGGAACACTGCTGTGAAGCAGAGCTCCTTTGCAGACACCCCTGAAGCACCCTTGTTACCCCAACATCCTACCAGAGCTGCTGGGAAACAAGGGTGCTGCTGGGATCAGCACCAATGGCTCGGACACGGCACAGCACCCGTGCTACGTTGCCATCCACCACACCGGTTGCCTGGCACAGAGGGGCCAAAGAGTTAGCCTGGGCTGGGAGGAAGGAGGCTGGGCACGCACAAAGTGGGGGTGGGCTGTGAGATCACCTGGCCAAAGGCGATAGAGGCAATGGCCCCAGCTGTGTAGCGCCCCACGCCAGGCAGGAGCTGCTGCAGGGTCTCTGCTGTACGTGGCATGTGGCCCCCTAGCTCCTCTACCACCTGATTGGAGTGCAAGACTCAAGATTATAAGACACCCAAGACTCCTGGGTTCCTACCCTCCTGCCATCCCCTTACCTTCCGAGCTCCCTCCTGCAGCCGCCGGCCACGAGAATAGTAGCCCAGGCCAGCCCAGAGTTGATTCACCTCCTGTGGGTAGGATCAGAGGTCAAAGAGATCACCCGTCAGTCCCTCTATTGTTCCTATTTCCCCTACCCTAGGGTGGCTCTCACCTCCAGGGAAGCACTGGCCAGGTCCTGCAGTGTAGGCCACTTCTATAGCCACAGGCAGGCAGAAAGAGACAAGGTCAAGGGTGAAGGTGGTAGAGGAAGCCTTCTCTACACCCACCCCAAAGTAGAGGCTCTCATCTGGGGTCTGACCCATGACCCTTCCCTTCCTCCCCTGGAGTCACCTGCATCCATCCGGTATAGTAGTTGATCACAGTGGCAACCTGGGTCTGCTGCAGCATGACCTCTGAGACCCACACTGGGGGAAAGGGGTTGGCATGAGGACACTGCTGACCTGCCCCTACCTGGCCCACAGCCCCCAGACCCAAGGGCCTCGAGGCAAAGTGGCCCTGCTCTCAGGAGATGTACTGACCAGCATATGCCCGCCTGTCCAGGTCCATCTCATCTTCTGCCTGTCAATGCAACCCCAGATGAGGAGTTAGGGTGGAGGGGGCTGGGTGCCTGCCTCCCACCCACTGTCCCTGCTCCTCGCCTGCCTACCCGTCTTCTCCATGGTAGGTCCCGTTTCTCTTGGTCGTACCAGCTTAGCAGGCTCCCTCGGAAGGCTGTGACTTCAGCTACGTCTCTGAATAGATGGTATGAGGAGACAGAGGCCTGCAATACCACCTCTTCCGGCTGCCTGGCCAGGCCTGCTGGGGCCCCAG
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GGGAGCAGAGAATCCTCTCCTTGTCCTCTCTCCCTTTCCCCGACTCTACTGATCTAGCTAGGCTTAGCCTGGAATGCTGTAGAGCTTTCATCCTGCCTCAAGTATCTGCCCCATCAATCAACCCTCCAAAAGGCTGCCTGAGGGAATCGAATTGTCCTAAAAATGCAAATCTGACTCCTCTCTCCTCCACCTAAAATGAGTCAGCAGCCTAGGGCTCACACCCTGACTGACCCAGCAGGCCCTGCTGACCTTTCCAGCTAAACCAACTGCTCACAGCTCCTTGAGCACTGCAGCCTGCACTGGGCTCCACCTTTGCTCACACTACTCTTGGGACTGGAAAGAACATCGCTACGGTTGATTCCCCTCCCAAACCTGAAGAAAAGGATTCATTTCTAGGACGAAGATTACCAGCTGCTTCCTCCAAACAGCCTTTCCTGATCCGTCTCCCAATTAGAACTGATAGCTCCCATGGATGGGTGTGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCAAGATGGGCAGATCACTTGAGGTCAGGAGTTCGAGACCAGCCTAGTCAACATGGTGAAACCCTGTCTCTACTAAAAATACAAAAATTAGTTGGGTGTGGTAGCAGGCACCTGTAATCCCAGCTACTTGGGAGACTGAGGCAGGAGAATCGCTTTAATCCAGTTGTGGGAGATTGCAGTGAGCCGAGATCGGGCCACTGCACTCTAGCTTGGGTGACAGTGAGACTGTCTCAAAAAAAAAAAAAAAAAAAAAAAAGAACTGATGGCTCCACAATTCATATCCCACAAAACTCAGTACAGGCATTTCACACACCTGTGACACTGGAGAGTCCTCATCATTTTTTTCCTTTCCCTCTACCCTGCACCCCACAATGGAAGGTCTCCAGGTCAAGAACTATTCCTCCCTCCAGTGAAGCCTGGAGTGGAGAATGTTCACCCAGACATTCGTTAGTTAACTGACTAAAAACCTATGGACTCAGGCCTGGGGAGACACGGTTGGGAGAGGCCTAGGAGACTTACCATACAGGTCCCTGGCTGTTGGCCCTGATACACACGGAAAACCTAGACAAGAAGACAGGGAGGTGAGGGCTGGCACTTTTTGCAAAAGAGATAAACCGGTGTTCTGCCCTTAACTTCATGTCCCAGTACTTTTGTTTAAAATATGCTTTTTTGGCCAGGCATGGTGGCTCACGCCTATAATCCCAGCATTTTGGGAGGCCAAGTCGGGTGGATCACTTGAGGCCAGGAGTTTGAGACCAGCCTGGCCAACATGGTGAAACCCCATCTCTAAAAATACAAAAAATCATGGCTGGGTGTGGTAGCTCACACCTGTAATCCCAGCATTCTGGGAGGCTGAGGCGGGCGGATCACTTGAGGTCAAGAGTTGGAGACCAGCCTGGCCAGCATGGTGAAACCTCATCTCTACTAAAAATACAAAAATTAGCCAGGCATGGTGGCGGGCGCCTGTAATCCGAGCTACTCAGGAAGCTGAGGCAGGAGAATCACTTGAACCCGGGAGATGGAGGTTGCAGTCAACCGAGATAGCGCCATTGCACTCCAGCCTGGGCAACAGAGCGATTCTCCGTCTCAAAAAAAAATGCTTTTTTTCCTGTTTACACAGTAATATATTCATGTAGAACATGTAGGAAACACAAGGAAGTACAACAAAGACAACAAAGGTAGTGCCTTTTTCATGGCGGTGGAAACAGCTGCGGTGTGAAATTCCTCCTGCGTCAGCCAGCGAGCACCTGGTGGTACGGTGGTCACTGGGGTCTGCCCTTCCAAGGCCAGCCCATATACTTGATATGTCAGCTTGATGTGAGAGAAGGTGTGGACAACCTGGAGGAAGGGTCAAGGGGTTCAAATAGGCCTGTGGATATAGCCTCAAAAGCCAACATCCTTGGCTATTCCGCTGCTCACTTACCTCCCCAAGGTGCCGGAGGTGCGTGGCTGGGAGGGGCCCAGCCCAACGCTGTAGTTCCTGCAGCAGGGCCTTGCGCTGAAGCTGCTCTGAGGGCTCCCAGGTCACGGACAGGAACTCCCACAGTCCTGCCAGCAGACCTGAGAGGGAGGGCAGCCAGGCAGGGGTCAGGCCTCAGCTGCCGATTCCCTCCATTCTCTCTTGTTACTCATGCCACTGCCCTCCACGCCCAGTATCCAGGTACCTGAGTTGGGCCTCTGCACCAGCAGAATTTGGGCCCCAAGGGCCCCAGGCTGTTCCAGAACACAGGTGGCAGAGCTCTCCTCCCTGGGGGGCTTGCGGCTGGCCTTTCTGGGGAAGTTGACCACTCCCAGGGTCTGGTCCCAGGGCTCCGAGGGAGGCAGGCACAGGTGGCACTGTCCAGTGTTGGGAGCTGGGAACGGAGATCCCCGAACCCTACTCAAGCCAAGAGGGCTTTAGGGGCCAACCTAGAGAGTGGGCTTTGGCCGGGTTCTGCAGAATCTTACTCAGGTTAGAGGAAGAACTGGAATGGGGCTTCTGACTGGGCCAGGAAGGGTTGGGGTGGGGGCTAGGTTTGGTGCTCACCACACTCCTCCACGTCAGGACTGCCCGACAGGCTCCCTGAGGCTAAGAGCTGTTCCTGCTCCACCTGAGAGGCACAGGGTTGAGTGTCATAGGGCAGAGTCACTCCTTAGGACTTCTCACTGCCCCTTCCCCAGTAGGCTTACTCTCTGGCGTGCCCGGCACAGGCTCTCCACAGGGCACTGGCTGCACAGTGGGCGCTGTGGGGTACACACTGTGGCCCCTAGCTCCATGGCTGCTTGGTTGAAATCTCCTGGCCGGGCTGGGTCCACCAGCTGCTGGGCTAGACCCCTAAAAGAAGGGAACACTGCTGTGAAGCAGAGCTCCTTTGCAGACACCCCTGAAGCACCCTTGTTACCCCAACATCCTACCAGAGCTGCTGGGAAACAAGGGTGCTGCTGGGATCAGCACCAATGGCTCGGACACGGCACAGCACCCGTGCTACGTTGCCATCCACCACACCGGTTGCCTGGCACAGAGGGGCCAAAGAGTTAGCCTGGGCTGGGAGGAAGGAGGCTGGGCACGCACAAAGTGGGGGTGGGCTGTGAGATCACCTGGCCAAAGGCGATAGAGGCAATGGCCCCAGCTGTGTAGCGCCCCACGCCAGGCAGGAGCTGCTGCAGGGTCTCTGCTGTACGTGGCATGTGGCCCCCTAGCTCCTCTACCACCTGATTGGAGTGCAAGACTCAAGATTATAAGACACCCAAGACTCCTGGGTTCCTACCCTCCTGCCATCCCCTTACCTTCCGAGCTCCCTCCTGCAGCCGCCGGCCACGAGAATAGTAGCCCAGGCCAGCCCAGAGTTGATTCACCTCCTGTGGGTAGGATCAGAGGTCAAAGAGATCACCCGTCAGTCCCTCTATTGTTCCTATTTCCCCTACCCTAGGGTGGCTCTCACCTCCAGGGAAGCACTGGCCAGGTCCTGCAGTGTAGGCCACTTCTATAGCCACAGGCAGGCAGAAAGAGACAAGGTCAAGGGTGAAGGTGGTAGAGGAAGCCTTCTCTACACCCACCCCAAAGTAGAGGCTCTCATCTGGGGTCTGACCCATGACCCTTCCCTTCCTCCCCTGGAGTCACCTGCATCCATCCGGTATAGTAGTTGATCACAGTGGCAACCTGGGTCTGCTGCAGCATGACCTCTGAGACCCACACTGGGGGAAAGGGGTTGGCATGAGGACACTGCTGACCTGCCCCTACCTGGCCCACAGCCCCCAGACCCAAGGGCCTCGAGGCAAAGTGGCCCTGCTCTCAGGAGATGTACTGACCAGCATATGCCCGCCTGTCCAGGTCCATCTCATCTTCTGCCTGTCAATGCAACCCCAGATGAGGAGTTAGGGTGGAGGGGGCTGGGTGCCTGCCTCCCACCCACTGTCCCTGCTCCTCGCCTGCCTACCCGTCTTCTCCATGGTAGGTCCCGTTTCTCTTGGTCGTACCAGCTTAGCAGGCTCCCTCGGAAGGCTGTGACTTCAGCTACGTCTCTGAATAGATGGTATGAGGAGACAGAGGCCTGCAATACCACCTCTTCCGGCTGCCTGGCCAGGCCTGCTGGGGCCCCAG
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Task1_train_856
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Consider a variant on Chromosome 1 in gene MUTYH (mutY DNA glycosylase). Determine its clinical classification and disease relevance.
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Pathogenic; Familial adenomatous polyposis 2
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GGGAGCAGAGAATCCTCTCCTTGTCCTCTCTCCCTTTCCCCGACTCTACTGATCTAGCTAGGCTTAGCCTGGAATGCTGTAGAGCTTTCATCCTGCCTCAAGTATCTGCCCCATCAATCAACCCTCCAAAAGGCTGCCTGAGGGAATCGAATTGTCCTAAAAATGCAAATCTGACTCCTCTCTCCTCCACCTAAAATGAGTCAGCAGCCTAGGGCTCACACCCTGACTGACCCAGCAGGCCCTGCTGACCTTTCCAGCTAAACCAACTGCTCACAGCTCCTTGAGCACTGCAGCCTGCACTGGGCTCCACCTTTGCTCACACTACTCTTGGGACTGGAAAGAACATCGCTACGGTTGATTCCCCTCCCAAACCTGAAGAAAAGGATTCATTTCTAGGACGAAGATTACCAGCTGCTTCCTCCAAACAGCCTTTCCTGATCCGTCTCCCAATTAGAACTGATAGCTCCCATGGATGGGTGTGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCAAGATGGGCAGATCACTTGAGGTCAGGAGTTCGAGACCAGCCTAGTCAACATGGTGAAACCCTGTCTCTACTAAAAATACAAAAATTAGTTGGGTGTGGTAGCAGGCACCTGTAATCCCAGCTACTTGGGAGACTGAGGCAGGAGAATCGCTTTAATCCAGTTGTGGGAGATTGCAGTGAGCCGAGATCGGGCCACTGCACTCTAGCTTGGGTGACAGTGAGACTGTCTCAAAAAAAAAAAAAAAAAAAAAAAAGAACTGATGGCTCCACAATTCATATCCCACAAAACTCAGTACAGGCATTTCACACACCTGTGACACTGGAGAGTCCTCATCATTTTTTTCCTTTCCCTCTACCCTGCACCCCACAATGGAAGGTCTCCAGGTCAAGAACTATTCCTCCCTCCAGTGAAGCCTGGAGTGGAGAATGTTCACCCAGACATTCGTTAGTTAACTGACTAAAAACCTATGGACTCAGGCCTGGGGAGACACGGTTGGGAGAGGCCTAGGAGACTTACCATACAGGTCCCTGGCTGTTGGCCCTGATACACACGGAAAACCTAGACAAGAAGACAGGGAGGTGAGGGCTGGCACTTTTTGCAAAAGAGATAAACCGGTGTTCTGCCCTTAACTTCATGTCCCAGTACTTTTGTTTAAAATATGCTTTTTTGGCCAGGCATGGTGGCTCACGCCTATAATCCCAGCATTTTGGGAGGCCAAGTCGGGTGGATCACTTGAGGCCAGGAGTTTGAGACCAGCCTGGCCAACATGGTGAAACCCCATCTCTAAAAATACAAAAAATCATGGCTGGGTGTGGTAGCTCACACCTGTAATCCCAGCATTCTGGGAGGCTGAGGCGGGCGGATCACTTGAGGTCAAGAGTTGGAGACCAGCCTGGCCAGCATGGTGAAACCTCATCTCTACTAAAAATACAAAAATTAGCCAGGCATGGTGGCGGGCGCCTGTAATCCGAGCTACTCAGGAAGCTGAGGCAGGAGAATCACTTGAACCCGGGAGATGGAGGTTGCAGTCAACCGAGATAGCGCCATTGCACTCCAGCCTGGGCAACAGAGCGATTCTCCGTCTCAAAAAAAAATGCTTTTTTTCCTGTTTACACAGTAATATATTCATGTAGAACATGTAGGAAACACAAGGAAGTACAACAAAGACAACAAAGGTAGTGCCTTTTTCATGGCGGTGGAAACAGCTGCGGTGTGAAATTCCTCCTGCGTCAGCCAGCGAGCACCTGGTGGTACGGTGGTCACTGGGGTCTGCCCTTCCAAGGCCAGCCCATATACTTGATATGTCAGCTTGATGTGAGAGAAGGTGTGGACAACCTGGAGGAAGGGTCAAGGGGTTCAAATAGGCCTGTGGATATAGCCTCAAAAGCCAACATCCTTGGCTATTCCGCTGCTCACTTACCTCCCCAAGGTGCCGGAGGTGCGTGGCTGGGAGGGGCCCAGCCCAACGCTGTAGTTCCTGCAGCAGGGCCTTGCGCTGAAGCTGCTCTGAGGGCTCCCAGGTCACGGACGGGAACTCCCACAGTCCTGCCAGCAGACCTGAGAGGGAGGGCAGCCAGGCAGGGGTCAGGCCTCAGCTGCCGATTCCCTCCATTCTCTCTTGTTACTCATGCCACTGCCCTCCACGCCCAGTATCCAGGTACCTGAGTTGGGCCTCTGCACCAGCAGAATTTGGGCCCCAAGGGCCCCAGGCTGTTCCAGAACACAGGTGGCAGAGCTCTCCTCCCTGGGGGGCTTGCGGCTGGCCTTTCTGGGGAAGTTGACCACTCCCAGGGTCTGGTCCCAGGGCTCCGAGGGAGGCAGGCACAGGTGGCACTGTCCAGTGTTGGGAGCTGGGAACGGAGATCCCCGAACCCTACTCAAGCCAAGAGGGCTTTAGGGGCCAACCTAGAGAGTGGGCTTTGGCCGGGTTCTGCAGAATCTTACTCAGGTTAGAGGAAGAACTGGAATGGGGCTTCTGACTGGGCCAGGAAGGGTTGGGGTGGGGGCTAGGTTTGGTGCTCACCACACTCCTCCACGTCAGGACTGCCCGACAGGCTCCCTGAGGCTAAGAGCTGTTCCTGCTCCACCTGAGAGGCACAGGGTTGAGTGTCATAGGGCAGAGTCACTCCTTAGGACTTCTCACTGCCCCTTCCCCAGTAGGCTTACTCTCTGGCGTGCCCGGCACAGGCTCTCCACAGGGCACTGGCTGCACAGTGGGCGCTGTGGGGTACACACTGTGGCCCCTAGCTCCATGGCTGCTTGGTTGAAATCTCCTGGCCGGGCTGGGTCCACCAGCTGCTGGGCTAGACCCCTAAAAGAAGGGAACACTGCTGTGAAGCAGAGCTCCTTTGCAGACACCCCTGAAGCACCCTTGTTACCCCAACATCCTACCAGAGCTGCTGGGAAACAAGGGTGCTGCTGGGATCAGCACCAATGGCTCGGACACGGCACAGCACCCGTGCTACGTTGCCATCCACCACACCGGTTGCCTGGCACAGAGGGGCCAAAGAGTTAGCCTGGGCTGGGAGGAAGGAGGCTGGGCACGCACAAAGTGGGGGTGGGCTGTGAGATCACCTGGCCAAAGGCGATAGAGGCAATGGCCCCAGCTGTGTAGCGCCCCACGCCAGGCAGGAGCTGCTGCAGGGTCTCTGCTGTACGTGGCATGTGGCCCCCTAGCTCCTCTACCACCTGATTGGAGTGCAAGACTCAAGATTATAAGACACCCAAGACTCCTGGGTTCCTACCCTCCTGCCATCCCCTTACCTTCCGAGCTCCCTCCTGCAGCCGCCGGCCACGAGAATAGTAGCCCAGGCCAGCCCAGAGTTGATTCACCTCCTGTGGGTAGGATCAGAGGTCAAAGAGATCACCCGTCAGTCCCTCTATTGTTCCTATTTCCCCTACCCTAGGGTGGCTCTCACCTCCAGGGAAGCACTGGCCAGGTCCTGCAGTGTAGGCCACTTCTATAGCCACAGGCAGGCAGAAAGAGACAAGGTCAAGGGTGAAGGTGGTAGAGGAAGCCTTCTCTACACCCACCCCAAAGTAGAGGCTCTCATCTGGGGTCTGACCCATGACCCTTCCCTTCCTCCCCTGGAGTCACCTGCATCCATCCGGTATAGTAGTTGATCACAGTGGCAACCTGGGTCTGCTGCAGCATGACCTCTGAGACCCACACTGGGGGAAAGGGGTTGGCATGAGGACACTGCTGACCTGCCCCTACCTGGCCCACAGCCCCCAGACCCAAGGGCCTCGAGGCAAAGTGGCCCTGCTCTCAGGAGATGTACTGACCAGCATATGCCCGCCTGTCCAGGTCCATCTCATCTTCTGCCTGTCAATGCAACCCCAGATGAGGAGTTAGGGTGGAGGGGGCTGGGTGCCTGCCTCCCACCCACTGTCCCTGCTCCTCGCCTGCCTACCCGTCTTCTCCATGGTAGGTCCCGTTTCTCTTGGTCGTACCAGCTTAGCAGGCTCCCTCGGAAGGCTGTGACTTCAGCTACGTCTCTGAATAGATGGTATGAGGAGACAGAGGCCTGCAATACCACCTCTTCCGGCTGCCTGGCCAGGCCTGCTGGGGCCCCAG
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GGGAGCAGAGAATCCTCTCCTTGTCCTCTCTCCCTTTCCCCGACTCTACTGATCTAGCTAGGCTTAGCCTGGAATGCTGTAGAGCTTTCATCCTGCCTCAAGTATCTGCCCCATCAATCAACCCTCCAAAAGGCTGCCTGAGGGAATCGAATTGTCCTAAAAATGCAAATCTGACTCCTCTCTCCTCCACCTAAAATGAGTCAGCAGCCTAGGGCTCACACCCTGACTGACCCAGCAGGCCCTGCTGACCTTTCCAGCTAAACCAACTGCTCACAGCTCCTTGAGCACTGCAGCCTGCACTGGGCTCCACCTTTGCTCACACTACTCTTGGGACTGGAAAGAACATCGCTACGGTTGATTCCCCTCCCAAACCTGAAGAAAAGGATTCATTTCTAGGACGAAGATTACCAGCTGCTTCCTCCAAACAGCCTTTCCTGATCCGTCTCCCAATTAGAACTGATAGCTCCCATGGATGGGTGTGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCAAGATGGGCAGATCACTTGAGGTCAGGAGTTCGAGACCAGCCTAGTCAACATGGTGAAACCCTGTCTCTACTAAAAATACAAAAATTAGTTGGGTGTGGTAGCAGGCACCTGTAATCCCAGCTACTTGGGAGACTGAGGCAGGAGAATCGCTTTAATCCAGTTGTGGGAGATTGCAGTGAGCCGAGATCGGGCCACTGCACTCTAGCTTGGGTGACAGTGAGACTGTCTCAAAAAAAAAAAAAAAAAAAAAAAAGAACTGATGGCTCCACAATTCATATCCCACAAAACTCAGTACAGGCATTTCACACACCTGTGACACTGGAGAGTCCTCATCATTTTTTTCCTTTCCCTCTACCCTGCACCCCACAATGGAAGGTCTCCAGGTCAAGAACTATTCCTCCCTCCAGTGAAGCCTGGAGTGGAGAATGTTCACCCAGACATTCGTTAGTTAACTGACTAAAAACCTATGGACTCAGGCCTGGGGAGACACGGTTGGGAGAGGCCTAGGAGACTTACCATACAGGTCCCTGGCTGTTGGCCCTGATACACACGGAAAACCTAGACAAGAAGACAGGGAGGTGAGGGCTGGCACTTTTTGCAAAAGAGATAAACCGGTGTTCTGCCCTTAACTTCATGTCCCAGTACTTTTGTTTAAAATATGCTTTTTTGGCCAGGCATGGTGGCTCACGCCTATAATCCCAGCATTTTGGGAGGCCAAGTCGGGTGGATCACTTGAGGCCAGGAGTTTGAGACCAGCCTGGCCAACATGGTGAAACCCCATCTCTAAAAATACAAAAAATCATGGCTGGGTGTGGTAGCTCACACCTGTAATCCCAGCATTCTGGGAGGCTGAGGCGGGCGGATCACTTGAGGTCAAGAGTTGGAGACCAGCCTGGCCAGCATGGTGAAACCTCATCTCTACTAAAAATACAAAAATTAGCCAGGCATGGTGGCGGGCGCCTGTAATCCGAGCTACTCAGGAAGCTGAGGCAGGAGAATCACTTGAACCCGGGAGATGGAGGTTGCAGTCAACCGAGATAGCGCCATTGCACTCCAGCCTGGGCAACAGAGCGATTCTCCGTCTCAAAAAAAAATGCTTTTTTTCCTGTTTACACAGTAATATATTCATGTAGAACATGTAGGAAACACAAGGAAGTACAACAAAGACAACAAAGGTAGTGCCTTTTTCATGGCGGTGGAAACAGCTGCGGTGTGAAATTCCTCCTGCGTCAGCCAGCGAGCACCTGGTGGTACGGTGGTCACTGGGGTCTGCCCTTCCAAGGCCAGCCCATATACTTGATATGTCAGCTTGATGTGAGAGAAGGTGTGGACAACCTGGAGGAAGGGTCAAGGGGTTCAAATAGGCCTGTGGATATAGCCTCAAAAGCCAACATCCTTGGCTATTCCGCTGCTCACTTACCTCCCCAAGGTGCCGGAGGTGCGTGGCTGGGAGGGGCCCAGCCCAACGCTGTAGTTCCTGCAGCAGGGCCTTGCGCTGAAGCTGCTCTGAGGGCTCCCAGGTCACGGACAGGAACTCCCACAGTCCTGCCAGCAGACCTGAGAGGGAGGGCAGCCAGGCAGGGGTCAGGCCTCAGCTGCCGATTCCCTCCATTCTCTCTTGTTACTCATGCCACTGCCCTCCACGCCCAGTATCCAGGTACCTGAGTTGGGCCTCTGCACCAGCAGAATTTGGGCCCCAAGGGCCCCAGGCTGTTCCAGAACACAGGTGGCAGAGCTCTCCTCCCTGGGGGGCTTGCGGCTGGCCTTTCTGGGGAAGTTGACCACTCCCAGGGTCTGGTCCCAGGGCTCCGAGGGAGGCAGGCACAGGTGGCACTGTCCAGTGTTGGGAGCTGGGAACGGAGATCCCCGAACCCTACTCAAGCCAAGAGGGCTTTAGGGGCCAACCTAGAGAGTGGGCTTTGGCCGGGTTCTGCAGAATCTTACTCAGGTTAGAGGAAGAACTGGAATGGGGCTTCTGACTGGGCCAGGAAGGGTTGGGGTGGGGGCTAGGTTTGGTGCTCACCACACTCCTCCACGTCAGGACTGCCCGACAGGCTCCCTGAGGCTAAGAGCTGTTCCTGCTCCACCTGAGAGGCACAGGGTTGAGTGTCATAGGGCAGAGTCACTCCTTAGGACTTCTCACTGCCCCTTCCCCAGTAGGCTTACTCTCTGGCGTGCCCGGCACAGGCTCTCCACAGGGCACTGGCTGCACAGTGGGCGCTGTGGGGTACACACTGTGGCCCCTAGCTCCATGGCTGCTTGGTTGAAATCTCCTGGCCGGGCTGGGTCCACCAGCTGCTGGGCTAGACCCCTAAAAGAAGGGAACACTGCTGTGAAGCAGAGCTCCTTTGCAGACACCCCTGAAGCACCCTTGTTACCCCAACATCCTACCAGAGCTGCTGGGAAACAAGGGTGCTGCTGGGATCAGCACCAATGGCTCGGACACGGCACAGCACCCGTGCTACGTTGCCATCCACCACACCGGTTGCCTGGCACAGAGGGGCCAAAGAGTTAGCCTGGGCTGGGAGGAAGGAGGCTGGGCACGCACAAAGTGGGGGTGGGCTGTGAGATCACCTGGCCAAAGGCGATAGAGGCAATGGCCCCAGCTGTGTAGCGCCCCACGCCAGGCAGGAGCTGCTGCAGGGTCTCTGCTGTACGTGGCATGTGGCCCCCTAGCTCCTCTACCACCTGATTGGAGTGCAAGACTCAAGATTATAAGACACCCAAGACTCCTGGGTTCCTACCCTCCTGCCATCCCCTTACCTTCCGAGCTCCCTCCTGCAGCCGCCGGCCACGAGAATAGTAGCCCAGGCCAGCCCAGAGTTGATTCACCTCCTGTGGGTAGGATCAGAGGTCAAAGAGATCACCCGTCAGTCCCTCTATTGTTCCTATTTCCCCTACCCTAGGGTGGCTCTCACCTCCAGGGAAGCACTGGCCAGGTCCTGCAGTGTAGGCCACTTCTATAGCCACAGGCAGGCAGAAAGAGACAAGGTCAAGGGTGAAGGTGGTAGAGGAAGCCTTCTCTACACCCACCCCAAAGTAGAGGCTCTCATCTGGGGTCTGACCCATGACCCTTCCCTTCCTCCCCTGGAGTCACCTGCATCCATCCGGTATAGTAGTTGATCACAGTGGCAACCTGGGTCTGCTGCAGCATGACCTCTGAGACCCACACTGGGGGAAAGGGGTTGGCATGAGGACACTGCTGACCTGCCCCTACCTGGCCCACAGCCCCCAGACCCAAGGGCCTCGAGGCAAAGTGGCCCTGCTCTCAGGAGATGTACTGACCAGCATATGCCCGCCTGTCCAGGTCCATCTCATCTTCTGCCTGTCAATGCAACCCCAGATGAGGAGTTAGGGTGGAGGGGGCTGGGTGCCTGCCTCCCACCCACTGTCCCTGCTCCTCGCCTGCCTACCCGTCTTCTCCATGGTAGGTCCCGTTTCTCTTGGTCGTACCAGCTTAGCAGGCTCCCTCGGAAGGCTGTGACTTCAGCTACGTCTCTGAATAGATGGTATGAGGAGACAGAGGCCTGCAATACCACCTCTTCCGGCTGCCTGGCCAGGCCTGCTGGGGCCCCAG
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Task1_train_857
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This alteration in MUTYH (mutY DNA glycosylase) on Chromosome 1 may affect gene function. Does it lead to a disease or is it benign?
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Pathogenic; Familial colorectal cancer
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TCCCTCCAGTGAAGCCTGGAGTGGAGAATGTTCACCCAGACATTCGTTAGTTAACTGACTAAAAACCTATGGACTCAGGCCTGGGGAGACACGGTTGGGAGAGGCCTAGGAGACTTACCATACAGGTCCCTGGCTGTTGGCCCTGATACACACGGAAAACCTAGACAAGAAGACAGGGAGGTGAGGGCTGGCACTTTTTGCAAAAGAGATAAACCGGTGTTCTGCCCTTAACTTCATGTCCCAGTACTTTTGTTTAAAATATGCTTTTTTGGCCAGGCATGGTGGCTCACGCCTATAATCCCAGCATTTTGGGAGGCCAAGTCGGGTGGATCACTTGAGGCCAGGAGTTTGAGACCAGCCTGGCCAACATGGTGAAACCCCATCTCTAAAAATACAAAAAATCATGGCTGGGTGTGGTAGCTCACACCTGTAATCCCAGCATTCTGGGAGGCTGAGGCGGGCGGATCACTTGAGGTCAAGAGTTGGAGACCAGCCTGGCCAGCATGGTGAAACCTCATCTCTACTAAAAATACAAAAATTAGCCAGGCATGGTGGCGGGCGCCTGTAATCCGAGCTACTCAGGAAGCTGAGGCAGGAGAATCACTTGAACCCGGGAGATGGAGGTTGCAGTCAACCGAGATAGCGCCATTGCACTCCAGCCTGGGCAACAGAGCGATTCTCCGTCTCAAAAAAAAATGCTTTTTTTCCTGTTTACACAGTAATATATTCATGTAGAACATGTAGGAAACACAAGGAAGTACAACAAAGACAACAAAGGTAGTGCCTTTTTCATGGCGGTGGAAACAGCTGCGGTGTGAAATTCCTCCTGCGTCAGCCAGCGAGCACCTGGTGGTACGGTGGTCACTGGGGTCTGCCCTTCCAAGGCCAGCCCATATACTTGATATGTCAGCTTGATGTGAGAGAAGGTGTGGACAACCTGGAGGAAGGGTCAAGGGGTTCAAATAGGCCTGTGGATATAGCCTCAAAAGCCAACATCCTTGGCTATTCCGCTGCTCACTTACCTCCCCAAGGTGCCGGAGGTGCGTGGCTGGGAGGGGCCCAGCCCAACGCTGTAGTTCCTGCAGCAGGGCCTTGCGCTGAAGCTGCTCTGAGGGCTCCCAGGTCACGGACGGGAACTCCCACAGTCCTGCCAGCAGACCTGAGAGGGAGGGCAGCCAGGCAGGGGTCAGGCCTCAGCTGCCGATTCCCTCCATTCTCTCTTGTTACTCATGCCACTGCCCTCCACGCCCAGTATCCAGGTACCTGAGTTGGGCCTCTGCACCAGCAGAATTTGGGCCCCAAGGGCCCCAGGCTGTTCCAGAACACAGGTGGCAGAGCTCTCCTCCCTGGGGGGCTTGCGGCTGGCCTTTCTGGGGAAGTTGACCACTCCCAGGGTCTGGTCCCAGGGCTCCGAGGGAGGCAGGCACAGGTGGCACTGTCCAGTGTTGGGAGCTGGGAACGGAGATCCCCGAACCCTACTCAAGCCAAGAGGGCTTTAGGGGCCAACCTAGAGAGTGGGCTTTGGCCGGGTTCTGCAGAATCTTACTCAGGTTAGAGGAAGAACTGGAATGGGGCTTCTGACTGGGCCAGGAAGGGTTGGGGTGGGGGCTAGGTTTGGTGCTCACCACACTCCTCCACGTCAGGACTGCCCGACAGGCTCCCTGAGGCTAAGAGCTGTTCCTGCTCCACCTGAGAGGCACAGGGTTGAGTGTCATAGGGCAGAGTCACTCCTTAGGACTTCTCACTGCCCCTTCCCCAGTAGGCTTACTCTCTGGCGTGCCCGGCACAGGCTCTCCACAGGGCACTGGCTGCACAGTGGGCGCTGTGGGGTACACACTGTGGCCCCTAGCTCCATGGCTGCTTGGTTGAAATCTCCTGGCCGGGCTGGGTCCACCAGCTGCTGGGCTAGACCCCTAAAAGAAGGGAACACTGCTGTGAAGCAGAGCTCCTTTGCAGACACCCCTGAAGCACCCTTGTTACCCCAACATCCTACCAGAGCTGCTGGGAAACAAGGGTGCTGCTGGGATCAGCACCAATGGCTCGGACACGGCACAGCACCCGTGCTACGTTGCCATCCACCACACCGGTTGCCTGGCACAGAGGGGCCAAAGAGTTAGCCTGGGCTGGGAGGAAGGAGGCTGGGCACGCACAAAGTGGGGGTGGGCTGTGAGATCACCTGGCCAAAGGCGATAGAGGCAATGGCCCCAGCTGTGTAGCGCCCCACGCCAGGCAGGAGCTGCTGCAGGGTCTCTGCTGTACGTGGCATGTGGCCCCCTAGCTCCTCTACCACCTGATTGGAGTGCAAGACTCAAGATTATAAGACACCCAAGACTCCTGGGTTCCTACCCTCCTGCCATCCCCTTACCTTCCGAGCTCCCTCCTGCAGCCGCCGGCCACGAGAATAGTAGCCCAGGCCAGCCCAGAGTTGATTCACCTCCTGTGGGTAGGATCAGAGGTCAAAGAGATCACCCGTCAGTCCCTCTATTGTTCCTATTTCCCCTACCCTAGGGTGGCTCTCACCTCCAGGGAAGCACTGGCCAGGTCCTGCAGTGTAGGCCACTTCTATAGCCACAGGCAGGCAGAAAGAGACAAGGTCAAGGGTGAAGGTGGTAGAGGAAGCCTTCTCTACACCCACCCCAAAGTAGAGGCTCTCATCTGGGGTCTGACCCATGACCCTTCCCTTCCTCCCCTGGAGTCACCTGCATCCATCCGGTATAGTAGTTGATCACAGTGGCAACCTGGGTCTGCTGCAGCATGACCTCTGAGACCCACACTGGGGGAAAGGGGTTGGCATGAGGACACTGCTGACCTGCCCCTACCTGGCCCACAGCCCCCAGACCCAAGGGCCTCGAGGCAAAGTGGCCCTGCTCTCAGGAGATGTACTGACCAGCATATGCCCGCCTGTCCAGGTCCATCTCATCTTCTGCCTGTCAATGCAACCCCAGATGAGGAGTTAGGGTGGAGGGGGCTGGGTGCCTGCCTCCCACCCACTGTCCCTGCTCCTCGCCTGCCTACCCGTCTTCTCCATGGTAGGTCCCGTTTCTCTTGGTCGTACCAGCTTAGCAGGCTCCCTCGGAAGGCTGTGACTTCAGCTACGTCTCTGAATAGATGGTATGAGGAGACAGAGGCCTGCAATACCACCTCTTCCGGCTGCCTGGCCAGGCCTGCTGGGGCCCCAGGACACTCAGCAATCATCCCTGCACAGGCTGTGCATCAGGGTCTTGGGACACAGCAGCCTGTGGCAGTATGCTCCCACTTAGGGCTTCCCCCAACTAACCCCCTTAAGCTTTGGAGCTGGAGTCAGACCAGAGTTATGTAATTGTGTGTAGCTGTGGCTAAGTTTCTGGCCTTAATTTTCTCAGGGTGGTACTACTGGCTTGTCTCTGAGCCATAATGAAAACCTAATAGTTTTAGCCAGCTAGAATGTATACTGGTGCAGGACCTTCCTATTCACAAAACACTTTCAGGCTCATAAACTCATTTGGTCCCATGAAAGCCACATGAGGGAGGAAATGCTGAACTACTGCTCCATTTTACTGGTAAGAAAGCAGCCATTCAGAGCAATTGTCCCAATGTCACACAGCAATACAGTCAGAATTACACCCTCAGTGAGTCTCTTTTGTTTTGAGACAAGAGTCTGGCTCTGTTGCCCAGACTGAAATGCAGTTGCATTATCTTGACTCAGTGCAACTTCTGCCTTCCAGGCTCAAGCGATCCTGTCACCTCAGCTTCCCGAGTAGCTGGGACTACAGACGCTCACCACCACGCGAGCATAGAGAGGGGATTTCGCCATGTTACCCAAGCTGGTCTCAAACTCCTGGGCTCAAGGGATCCACCTGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACCGCACCTGGCCCTTAGTAAGTCTCTTAATGTCTTGATACGTATCACAATCCCTTCCCAGCCTGAATCTGCCTTTCATGGCCAATGAGCCTTGGGCCACAACCTAGTTCCTTACCATCACAGGCAGAAGGCTTGGCCTGACTGTTGTTCTTAGCATGCTTCTGCCTCCCTTCCTGGCTGGCTGCCTGCTTCCTGTGACCACTTCCCACGGCTGCTCG
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TCCCTCCAGTGAAGCCTGGAGTGGAGAATGTTCACCCAGACATTCGTTAGTTAACTGACTAAAAACCTATGGACTCAGGCCTGGGGAGACACGGTTGGGAGAGGCCTAGGAGACTTACCATACAGGTCCCTGGCTGTTGGCCCTGATACACACGGAAAACCTAGACAAGAAGACAGGGAGGTGAGGGCTGGCACTTTTTGCAAAAGAGATAAACCGGTGTTCTGCCCTTAACTTCATGTCCCAGTACTTTTGTTTAAAATATGCTTTTTTGGCCAGGCATGGTGGCTCACGCCTATAATCCCAGCATTTTGGGAGGCCAAGTCGGGTGGATCACTTGAGGCCAGGAGTTTGAGACCAGCCTGGCCAACATGGTGAAACCCCATCTCTAAAAATACAAAAAATCATGGCTGGGTGTGGTAGCTCACACCTGTAATCCCAGCATTCTGGGAGGCTGAGGCGGGCGGATCACTTGAGGTCAAGAGTTGGAGACCAGCCTGGCCAGCATGGTGAAACCTCATCTCTACTAAAAATACAAAAATTAGCCAGGCATGGTGGCGGGCGCCTGTAATCCGAGCTACTCAGGAAGCTGAGGCAGGAGAATCACTTGAACCCGGGAGATGGAGGTTGCAGTCAACCGAGATAGCGCCATTGCACTCCAGCCTGGGCAACAGAGCGATTCTCCGTCTCAAAAAAAAATGCTTTTTTTCCTGTTTACACAGTAATATATTCATGTAGAACATGTAGGAAACACAAGGAAGTACAACAAAGACAACAAAGGTAGTGCCTTTTTCATGGCGGTGGAAACAGCTGCGGTGTGAAATTCCTCCTGCGTCAGCCAGCGAGCACCTGGTGGTACGGTGGTCACTGGGGTCTGCCCTTCCAAGGCCAGCCCATATACTTGATATGTCAGCTTGATGTGAGAGAAGGTGTGGACAACCTGGAGGAAGGGTCAAGGGGTTCAAATAGGCCTGTGGATATAGCCTCAAAAGCCAACATCCTTGGCTATTCCGCTGCTCACTTACCTCCCCAAGGTGCCGGAGGTGCGTGGCTGGGAGGGGCCCAGCCCAACGCTGTAGTTCCTGCAGCAGGGCCTTGCGCTGAAGCTGCTCTGAGGGCTCCCAGGTCACGGACGGGAACTCCCACAGTCCTGCCAGCAGACCTGAGAGGGAGGGCAGCCAGGCAGGGGTCAGGCCTCAGCTGCCGATTCCCTCCATTCTCTCTTGTTACTCATGCCACTGCCCTCCACGCCCAGTATCCAGGTACCTGAGTTGGGCCTCTGCACCAGCAGAATTTGGGCCCCAAGGGCCCCAGGCTGTTCCAGAACACAGGTGGCAGAGCTCTCCTCCCTGGGGGGCTTGCGGCTGGCCTTTCTGGGGAAGTTGACCACTCCCAGGGTCTGGTCCCAGGGCTCCGAGGGAGGCAGGCACAGGTGGCACTGTCCAGTGTTGGGAGCTGGGAACGGAGATCCCCGAACCCTACTCAAGCCAAGAGGGCTTTAGGGGCCAACCTAGAGAGTGGGCTTTGGCCGGGTTCTGCAGAATCTTACTCAGGTTAGAGGAAGAACTGGAATGGGGCTTCTGACTGGGCCAGGAAGGGTTGGGGTGGGGGCTAGGTTTGGTGCTCACCACACTCCTCCACGTCAGGACTGCCCGACAGGCTCCCTGAGGCTAAGAGCTGTTCCTGCTCCACCTGAGAGGCACAGGGTTGAGTGTCATAGGGCAGAGTCACTCCTTAGGACTTCTCACTGCCCCTTCCCCAGTAGGCTTACTCTCTGGCGTGCCCGGCACAGGCTCTCCACAGGGCACTGGCTGCACAGTGGGCGCTGTGGGGTACACACTGTGGCCCCTAGCTCCATGGCTGCTTGGTTGAAATCTCCTGGCCGGGCTGGGTCCACCAGCTGCTGGGCTAGACCCCTAAAAGAAGGGAACACTGCTGTGAAGCAGAGCTCCTTTGCAGACACCCCTGAAGCACCCTTGTTACCCCAACATCCTACCAGAGCTGCTGGGAAACAAGGGTGCTGCTGGGATCAGCACCAATGGCTCGGACACAGCACAGCACCCGTGCTACGTTGCCATCCACCACACCGGTTGCCTGGCACAGAGGGGCCAAAGAGTTAGCCTGGGCTGGGAGGAAGGAGGCTGGGCACGCACAAAGTGGGGGTGGGCTGTGAGATCACCTGGCCAAAGGCGATAGAGGCAATGGCCCCAGCTGTGTAGCGCCCCACGCCAGGCAGGAGCTGCTGCAGGGTCTCTGCTGTACGTGGCATGTGGCCCCCTAGCTCCTCTACCACCTGATTGGAGTGCAAGACTCAAGATTATAAGACACCCAAGACTCCTGGGTTCCTACCCTCCTGCCATCCCCTTACCTTCCGAGCTCCCTCCTGCAGCCGCCGGCCACGAGAATAGTAGCCCAGGCCAGCCCAGAGTTGATTCACCTCCTGTGGGTAGGATCAGAGGTCAAAGAGATCACCCGTCAGTCCCTCTATTGTTCCTATTTCCCCTACCCTAGGGTGGCTCTCACCTCCAGGGAAGCACTGGCCAGGTCCTGCAGTGTAGGCCACTTCTATAGCCACAGGCAGGCAGAAAGAGACAAGGTCAAGGGTGAAGGTGGTAGAGGAAGCCTTCTCTACACCCACCCCAAAGTAGAGGCTCTCATCTGGGGTCTGACCCATGACCCTTCCCTTCCTCCCCTGGAGTCACCTGCATCCATCCGGTATAGTAGTTGATCACAGTGGCAACCTGGGTCTGCTGCAGCATGACCTCTGAGACCCACACTGGGGGAAAGGGGTTGGCATGAGGACACTGCTGACCTGCCCCTACCTGGCCCACAGCCCCCAGACCCAAGGGCCTCGAGGCAAAGTGGCCCTGCTCTCAGGAGATGTACTGACCAGCATATGCCCGCCTGTCCAGGTCCATCTCATCTTCTGCCTGTCAATGCAACCCCAGATGAGGAGTTAGGGTGGAGGGGGCTGGGTGCCTGCCTCCCACCCACTGTCCCTGCTCCTCGCCTGCCTACCCGTCTTCTCCATGGTAGGTCCCGTTTCTCTTGGTCGTACCAGCTTAGCAGGCTCCCTCGGAAGGCTGTGACTTCAGCTACGTCTCTGAATAGATGGTATGAGGAGACAGAGGCCTGCAATACCACCTCTTCCGGCTGCCTGGCCAGGCCTGCTGGGGCCCCAGGACACTCAGCAATCATCCCTGCACAGGCTGTGCATCAGGGTCTTGGGACACAGCAGCCTGTGGCAGTATGCTCCCACTTAGGGCTTCCCCCAACTAACCCCCTTAAGCTTTGGAGCTGGAGTCAGACCAGAGTTATGTAATTGTGTGTAGCTGTGGCTAAGTTTCTGGCCTTAATTTTCTCAGGGTGGTACTACTGGCTTGTCTCTGAGCCATAATGAAAACCTAATAGTTTTAGCCAGCTAGAATGTATACTGGTGCAGGACCTTCCTATTCACAAAACACTTTCAGGCTCATAAACTCATTTGGTCCCATGAAAGCCACATGAGGGAGGAAATGCTGAACTACTGCTCCATTTTACTGGTAAGAAAGCAGCCATTCAGAGCAATTGTCCCAATGTCACACAGCAATACAGTCAGAATTACACCCTCAGTGAGTCTCTTTTGTTTTGAGACAAGAGTCTGGCTCTGTTGCCCAGACTGAAATGCAGTTGCATTATCTTGACTCAGTGCAACTTCTGCCTTCCAGGCTCAAGCGATCCTGTCACCTCAGCTTCCCGAGTAGCTGGGACTACAGACGCTCACCACCACGCGAGCATAGAGAGGGGATTTCGCCATGTTACCCAAGCTGGTCTCAAACTCCTGGGCTCAAGGGATCCACCTGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACCGCACCTGGCCCTTAGTAAGTCTCTTAATGTCTTGATACGTATCACAATCCCTTCCCAGCCTGAATCTGCCTTTCATGGCCAATGAGCCTTGGGCCACAACCTAGTTCCTTACCATCACAGGCAGAAGGCTTGGCCTGACTGTTGTTCTTAGCATGCTTCTGCCTCCCTTCCTGGCTGGCTGCCTGCTTCCTGTGACCACTTCCCACGGCTGCTCG
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Task1_train_858
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Here’s a variant in MUTYH (mutY DNA glycosylase) located on Chromosome 1. What is the predicted biological effect — harmless or disease-causing?
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Pathogenic; Familial adenomatous polyposis 2
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TCCCTCCAGTGAAGCCTGGAGTGGAGAATGTTCACCCAGACATTCGTTAGTTAACTGACTAAAAACCTATGGACTCAGGCCTGGGGAGACACGGTTGGGAGAGGCCTAGGAGACTTACCATACAGGTCCCTGGCTGTTGGCCCTGATACACACGGAAAACCTAGACAAGAAGACAGGGAGGTGAGGGCTGGCACTTTTTGCAAAAGAGATAAACCGGTGTTCTGCCCTTAACTTCATGTCCCAGTACTTTTGTTTAAAATATGCTTTTTTGGCCAGGCATGGTGGCTCACGCCTATAATCCCAGCATTTTGGGAGGCCAAGTCGGGTGGATCACTTGAGGCCAGGAGTTTGAGACCAGCCTGGCCAACATGGTGAAACCCCATCTCTAAAAATACAAAAAATCATGGCTGGGTGTGGTAGCTCACACCTGTAATCCCAGCATTCTGGGAGGCTGAGGCGGGCGGATCACTTGAGGTCAAGAGTTGGAGACCAGCCTGGCCAGCATGGTGAAACCTCATCTCTACTAAAAATACAAAAATTAGCCAGGCATGGTGGCGGGCGCCTGTAATCCGAGCTACTCAGGAAGCTGAGGCAGGAGAATCACTTGAACCCGGGAGATGGAGGTTGCAGTCAACCGAGATAGCGCCATTGCACTCCAGCCTGGGCAACAGAGCGATTCTCCGTCTCAAAAAAAAATGCTTTTTTTCCTGTTTACACAGTAATATATTCATGTAGAACATGTAGGAAACACAAGGAAGTACAACAAAGACAACAAAGGTAGTGCCTTTTTCATGGCGGTGGAAACAGCTGCGGTGTGAAATTCCTCCTGCGTCAGCCAGCGAGCACCTGGTGGTACGGTGGTCACTGGGGTCTGCCCTTCCAAGGCCAGCCCATATACTTGATATGTCAGCTTGATGTGAGAGAAGGTGTGGACAACCTGGAGGAAGGGTCAAGGGGTTCAAATAGGCCTGTGGATATAGCCTCAAAAGCCAACATCCTTGGCTATTCCGCTGCTCACTTACCTCCCCAAGGTGCCGGAGGTGCGTGGCTGGGAGGGGCCCAGCCCAACGCTGTAGTTCCTGCAGCAGGGCCTTGCGCTGAAGCTGCTCTGAGGGCTCCCAGGTCACGGACGGGAACTCCCACAGTCCTGCCAGCAGACCTGAGAGGGAGGGCAGCCAGGCAGGGGTCAGGCCTCAGCTGCCGATTCCCTCCATTCTCTCTTGTTACTCATGCCACTGCCCTCCACGCCCAGTATCCAGGTACCTGAGTTGGGCCTCTGCACCAGCAGAATTTGGGCCCCAAGGGCCCCAGGCTGTTCCAGAACACAGGTGGCAGAGCTCTCCTCCCTGGGGGGCTTGCGGCTGGCCTTTCTGGGGAAGTTGACCACTCCCAGGGTCTGGTCCCAGGGCTCCGAGGGAGGCAGGCACAGGTGGCACTGTCCAGTGTTGGGAGCTGGGAACGGAGATCCCCGAACCCTACTCAAGCCAAGAGGGCTTTAGGGGCCAACCTAGAGAGTGGGCTTTGGCCGGGTTCTGCAGAATCTTACTCAGGTTAGAGGAAGAACTGGAATGGGGCTTCTGACTGGGCCAGGAAGGGTTGGGGTGGGGGCTAGGTTTGGTGCTCACCACACTCCTCCACGTCAGGACTGCCCGACAGGCTCCCTGAGGCTAAGAGCTGTTCCTGCTCCACCTGAGAGGCACAGGGTTGAGTGTCATAGGGCAGAGTCACTCCTTAGGACTTCTCACTGCCCCTTCCCCAGTAGGCTTACTCTCTGGCGTGCCCGGCACAGGCTCTCCACAGGGCACTGGCTGCACAGTGGGCGCTGTGGGGTACACACTGTGGCCCCTAGCTCCATGGCTGCTTGGTTGAAATCTCCTGGCCGGGCTGGGTCCACCAGCTGCTGGGCTAGACCCCTAAAAGAAGGGAACACTGCTGTGAAGCAGAGCTCCTTTGCAGACACCCCTGAAGCACCCTTGTTACCCCAACATCCTACCAGAGCTGCTGGGAAACAAGGGTGCTGCTGGGATCAGCACCAATGGCTCGGACACGGCACAGCACCCGTGCTACGTTGCCATCCACCACACCGGTTGCCTGGCACAGAGGGGCCAAAGAGTTAGCCTGGGCTGGGAGGAAGGAGGCTGGGCACGCACAAAGTGGGGGTGGGCTGTGAGATCACCTGGCCAAAGGCGATAGAGGCAATGGCCCCAGCTGTGTAGCGCCCCACGCCAGGCAGGAGCTGCTGCAGGGTCTCTGCTGTACGTGGCATGTGGCCCCCTAGCTCCTCTACCACCTGATTGGAGTGCAAGACTCAAGATTATAAGACACCCAAGACTCCTGGGTTCCTACCCTCCTGCCATCCCCTTACCTTCCGAGCTCCCTCCTGCAGCCGCCGGCCACGAGAATAGTAGCCCAGGCCAGCCCAGAGTTGATTCACCTCCTGTGGGTAGGATCAGAGGTCAAAGAGATCACCCGTCAGTCCCTCTATTGTTCCTATTTCCCCTACCCTAGGGTGGCTCTCACCTCCAGGGAAGCACTGGCCAGGTCCTGCAGTGTAGGCCACTTCTATAGCCACAGGCAGGCAGAAAGAGACAAGGTCAAGGGTGAAGGTGGTAGAGGAAGCCTTCTCTACACCCACCCCAAAGTAGAGGCTCTCATCTGGGGTCTGACCCATGACCCTTCCCTTCCTCCCCTGGAGTCACCTGCATCCATCCGGTATAGTAGTTGATCACAGTGGCAACCTGGGTCTGCTGCAGCATGACCTCTGAGACCCACACTGGGGGAAAGGGGTTGGCATGAGGACACTGCTGACCTGCCCCTACCTGGCCCACAGCCCCCAGACCCAAGGGCCTCGAGGCAAAGTGGCCCTGCTCTCAGGAGATGTACTGACCAGCATATGCCCGCCTGTCCAGGTCCATCTCATCTTCTGCCTGTCAATGCAACCCCAGATGAGGAGTTAGGGTGGAGGGGGCTGGGTGCCTGCCTCCCACCCACTGTCCCTGCTCCTCGCCTGCCTACCCGTCTTCTCCATGGTAGGTCCCGTTTCTCTTGGTCGTACCAGCTTAGCAGGCTCCCTCGGAAGGCTGTGACTTCAGCTACGTCTCTGAATAGATGGTATGAGGAGACAGAGGCCTGCAATACCACCTCTTCCGGCTGCCTGGCCAGGCCTGCTGGGGCCCCAGGACACTCAGCAATCATCCCTGCACAGGCTGTGCATCAGGGTCTTGGGACACAGCAGCCTGTGGCAGTATGCTCCCACTTAGGGCTTCCCCCAACTAACCCCCTTAAGCTTTGGAGCTGGAGTCAGACCAGAGTTATGTAATTGTGTGTAGCTGTGGCTAAGTTTCTGGCCTTAATTTTCTCAGGGTGGTACTACTGGCTTGTCTCTGAGCCATAATGAAAACCTAATAGTTTTAGCCAGCTAGAATGTATACTGGTGCAGGACCTTCCTATTCACAAAACACTTTCAGGCTCATAAACTCATTTGGTCCCATGAAAGCCACATGAGGGAGGAAATGCTGAACTACTGCTCCATTTTACTGGTAAGAAAGCAGCCATTCAGAGCAATTGTCCCAATGTCACACAGCAATACAGTCAGAATTACACCCTCAGTGAGTCTCTTTTGTTTTGAGACAAGAGTCTGGCTCTGTTGCCCAGACTGAAATGCAGTTGCATTATCTTGACTCAGTGCAACTTCTGCCTTCCAGGCTCAAGCGATCCTGTCACCTCAGCTTCCCGAGTAGCTGGGACTACAGACGCTCACCACCACGCGAGCATAGAGAGGGGATTTCGCCATGTTACCCAAGCTGGTCTCAAACTCCTGGGCTCAAGGGATCCACCTGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACCGCACCTGGCCCTTAGTAAGTCTCTTAATGTCTTGATACGTATCACAATCCCTTCCCAGCCTGAATCTGCCTTTCATGGCCAATGAGCCTTGGGCCACAACCTAGTTCCTTACCATCACAGGCAGAAGGCTTGGCCTGACTGTTGTTCTTAGCATGCTTCTGCCTCCCTTCCTGGCTGGCTGCCTGCTTCCTGTGACCACTTCCCACGGCTGCTCG
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TCCCTCCAGTGAAGCCTGGAGTGGAGAATGTTCACCCAGACATTCGTTAGTTAACTGACTAAAAACCTATGGACTCAGGCCTGGGGAGACACGGTTGGGAGAGGCCTAGGAGACTTACCATACAGGTCCCTGGCTGTTGGCCCTGATACACACGGAAAACCTAGACAAGAAGACAGGGAGGTGAGGGCTGGCACTTTTTGCAAAAGAGATAAACCGGTGTTCTGCCCTTAACTTCATGTCCCAGTACTTTTGTTTAAAATATGCTTTTTTGGCCAGGCATGGTGGCTCACGCCTATAATCCCAGCATTTTGGGAGGCCAAGTCGGGTGGATCACTTGAGGCCAGGAGTTTGAGACCAGCCTGGCCAACATGGTGAAACCCCATCTCTAAAAATACAAAAAATCATGGCTGGGTGTGGTAGCTCACACCTGTAATCCCAGCATTCTGGGAGGCTGAGGCGGGCGGATCACTTGAGGTCAAGAGTTGGAGACCAGCCTGGCCAGCATGGTGAAACCTCATCTCTACTAAAAATACAAAAATTAGCCAGGCATGGTGGCGGGCGCCTGTAATCCGAGCTACTCAGGAAGCTGAGGCAGGAGAATCACTTGAACCCGGGAGATGGAGGTTGCAGTCAACCGAGATAGCGCCATTGCACTCCAGCCTGGGCAACAGAGCGATTCTCCGTCTCAAAAAAAAATGCTTTTTTTCCTGTTTACACAGTAATATATTCATGTAGAACATGTAGGAAACACAAGGAAGTACAACAAAGACAACAAAGGTAGTGCCTTTTTCATGGCGGTGGAAACAGCTGCGGTGTGAAATTCCTCCTGCGTCAGCCAGCGAGCACCTGGTGGTACGGTGGTCACTGGGGTCTGCCCTTCCAAGGCCAGCCCATATACTTGATATGTCAGCTTGATGTGAGAGAAGGTGTGGACAACCTGGAGGAAGGGTCAAGGGGTTCAAATAGGCCTGTGGATATAGCCTCAAAAGCCAACATCCTTGGCTATTCCGCTGCTCACTTACCTCCCCAAGGTGCCGGAGGTGCGTGGCTGGGAGGGGCCCAGCCCAACGCTGTAGTTCCTGCAGCAGGGCCTTGCGCTGAAGCTGCTCTGAGGGCTCCCAGGTCACGGACGGGAACTCCCACAGTCCTGCCAGCAGACCTGAGAGGGAGGGCAGCCAGGCAGGGGTCAGGCCTCAGCTGCCGATTCCCTCCATTCTCTCTTGTTACTCATGCCACTGCCCTCCACGCCCAGTATCCAGGTACCTGAGTTGGGCCTCTGCACCAGCAGAATTTGGGCCCCAAGGGCCCCAGGCTGTTCCAGAACACAGGTGGCAGAGCTCTCCTCCCTGGGGGGCTTGCGGCTGGCCTTTCTGGGGAAGTTGACCACTCCCAGGGTCTGGTCCCAGGGCTCCGAGGGAGGCAGGCACAGGTGGCACTGTCCAGTGTTGGGAGCTGGGAACGGAGATCCCCGAACCCTACTCAAGCCAAGAGGGCTTTAGGGGCCAACCTAGAGAGTGGGCTTTGGCCGGGTTCTGCAGAATCTTACTCAGGTTAGAGGAAGAACTGGAATGGGGCTTCTGACTGGGCCAGGAAGGGTTGGGGTGGGGGCTAGGTTTGGTGCTCACCACACTCCTCCACGTCAGGACTGCCCGACAGGCTCCCTGAGGCTAAGAGCTGTTCCTGCTCCACCTGAGAGGCACAGGGTTGAGTGTCATAGGGCAGAGTCACTCCTTAGGACTTCTCACTGCCCCTTCCCCAGTAGGCTTACTCTCTGGCGTGCCCGGCACAGGCTCTCCACAGGGCACTGGCTGCACAGTGGGCGCTGTGGGGTACACACTGTGGCCCCTAGCTCCATGGCTGCTTGGTTGAAATCTCCTGGCCGGGCTGGGTCCACCAGCTGCTGGGCTAGACCCCTAAAAGAAGGGAACACTGCTGTGAAGCAGAGCTCCTTTGCAGACACCCCTGAAGCACCCTTGTTACCCCAACATCCTACCAGAGCTGCTGGGAAACAAGGGTGCTGCTGGGATCAGCACCAATGGCTCGGACACAGCACAGCACCCGTGCTACGTTGCCATCCACCACACCGGTTGCCTGGCACAGAGGGGCCAAAGAGTTAGCCTGGGCTGGGAGGAAGGAGGCTGGGCACGCACAAAGTGGGGGTGGGCTGTGAGATCACCTGGCCAAAGGCGATAGAGGCAATGGCCCCAGCTGTGTAGCGCCCCACGCCAGGCAGGAGCTGCTGCAGGGTCTCTGCTGTACGTGGCATGTGGCCCCCTAGCTCCTCTACCACCTGATTGGAGTGCAAGACTCAAGATTATAAGACACCCAAGACTCCTGGGTTCCTACCCTCCTGCCATCCCCTTACCTTCCGAGCTCCCTCCTGCAGCCGCCGGCCACGAGAATAGTAGCCCAGGCCAGCCCAGAGTTGATTCACCTCCTGTGGGTAGGATCAGAGGTCAAAGAGATCACCCGTCAGTCCCTCTATTGTTCCTATTTCCCCTACCCTAGGGTGGCTCTCACCTCCAGGGAAGCACTGGCCAGGTCCTGCAGTGTAGGCCACTTCTATAGCCACAGGCAGGCAGAAAGAGACAAGGTCAAGGGTGAAGGTGGTAGAGGAAGCCTTCTCTACACCCACCCCAAAGTAGAGGCTCTCATCTGGGGTCTGACCCATGACCCTTCCCTTCCTCCCCTGGAGTCACCTGCATCCATCCGGTATAGTAGTTGATCACAGTGGCAACCTGGGTCTGCTGCAGCATGACCTCTGAGACCCACACTGGGGGAAAGGGGTTGGCATGAGGACACTGCTGACCTGCCCCTACCTGGCCCACAGCCCCCAGACCCAAGGGCCTCGAGGCAAAGTGGCCCTGCTCTCAGGAGATGTACTGACCAGCATATGCCCGCCTGTCCAGGTCCATCTCATCTTCTGCCTGTCAATGCAACCCCAGATGAGGAGTTAGGGTGGAGGGGGCTGGGTGCCTGCCTCCCACCCACTGTCCCTGCTCCTCGCCTGCCTACCCGTCTTCTCCATGGTAGGTCCCGTTTCTCTTGGTCGTACCAGCTTAGCAGGCTCCCTCGGAAGGCTGTGACTTCAGCTACGTCTCTGAATAGATGGTATGAGGAGACAGAGGCCTGCAATACCACCTCTTCCGGCTGCCTGGCCAGGCCTGCTGGGGCCCCAGGACACTCAGCAATCATCCCTGCACAGGCTGTGCATCAGGGTCTTGGGACACAGCAGCCTGTGGCAGTATGCTCCCACTTAGGGCTTCCCCCAACTAACCCCCTTAAGCTTTGGAGCTGGAGTCAGACCAGAGTTATGTAATTGTGTGTAGCTGTGGCTAAGTTTCTGGCCTTAATTTTCTCAGGGTGGTACTACTGGCTTGTCTCTGAGCCATAATGAAAACCTAATAGTTTTAGCCAGCTAGAATGTATACTGGTGCAGGACCTTCCTATTCACAAAACACTTTCAGGCTCATAAACTCATTTGGTCCCATGAAAGCCACATGAGGGAGGAAATGCTGAACTACTGCTCCATTTTACTGGTAAGAAAGCAGCCATTCAGAGCAATTGTCCCAATGTCACACAGCAATACAGTCAGAATTACACCCTCAGTGAGTCTCTTTTGTTTTGAGACAAGAGTCTGGCTCTGTTGCCCAGACTGAAATGCAGTTGCATTATCTTGACTCAGTGCAACTTCTGCCTTCCAGGCTCAAGCGATCCTGTCACCTCAGCTTCCCGAGTAGCTGGGACTACAGACGCTCACCACCACGCGAGCATAGAGAGGGGATTTCGCCATGTTACCCAAGCTGGTCTCAAACTCCTGGGCTCAAGGGATCCACCTGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACCGCACCTGGCCCTTAGTAAGTCTCTTAATGTCTTGATACGTATCACAATCCCTTCCCAGCCTGAATCTGCCTTTCATGGCCAATGAGCCTTGGGCCACAACCTAGTTCCTTACCATCACAGGCAGAAGGCTTGGCCTGACTGTTGTTCTTAGCATGCTTCTGCCTCCCTTCCTGGCTGGCTGCCTGCTTCCTGTGACCACTTCCCACGGCTGCTCG
|
Task1_train_859
|
Given this context: Chromosome 1, gene MUTYH (mutY DNA glycosylase) — does this variant present pathogenic behavior, and if so, what disease does it relate to?
|
Pathogenic; Familial adenomatous polyposis 2
|
TCCCTCCAGTGAAGCCTGGAGTGGAGAATGTTCACCCAGACATTCGTTAGTTAACTGACTAAAAACCTATGGACTCAGGCCTGGGGAGACACGGTTGGGAGAGGCCTAGGAGACTTACCATACAGGTCCCTGGCTGTTGGCCCTGATACACACGGAAAACCTAGACAAGAAGACAGGGAGGTGAGGGCTGGCACTTTTTGCAAAAGAGATAAACCGGTGTTCTGCCCTTAACTTCATGTCCCAGTACTTTTGTTTAAAATATGCTTTTTTGGCCAGGCATGGTGGCTCACGCCTATAATCCCAGCATTTTGGGAGGCCAAGTCGGGTGGATCACTTGAGGCCAGGAGTTTGAGACCAGCCTGGCCAACATGGTGAAACCCCATCTCTAAAAATACAAAAAATCATGGCTGGGTGTGGTAGCTCACACCTGTAATCCCAGCATTCTGGGAGGCTGAGGCGGGCGGATCACTTGAGGTCAAGAGTTGGAGACCAGCCTGGCCAGCATGGTGAAACCTCATCTCTACTAAAAATACAAAAATTAGCCAGGCATGGTGGCGGGCGCCTGTAATCCGAGCTACTCAGGAAGCTGAGGCAGGAGAATCACTTGAACCCGGGAGATGGAGGTTGCAGTCAACCGAGATAGCGCCATTGCACTCCAGCCTGGGCAACAGAGCGATTCTCCGTCTCAAAAAAAAATGCTTTTTTTCCTGTTTACACAGTAATATATTCATGTAGAACATGTAGGAAACACAAGGAAGTACAACAAAGACAACAAAGGTAGTGCCTTTTTCATGGCGGTGGAAACAGCTGCGGTGTGAAATTCCTCCTGCGTCAGCCAGCGAGCACCTGGTGGTACGGTGGTCACTGGGGTCTGCCCTTCCAAGGCCAGCCCATATACTTGATATGTCAGCTTGATGTGAGAGAAGGTGTGGACAACCTGGAGGAAGGGTCAAGGGGTTCAAATAGGCCTGTGGATATAGCCTCAAAAGCCAACATCCTTGGCTATTCCGCTGCTCACTTACCTCCCCAAGGTGCCGGAGGTGCGTGGCTGGGAGGGGCCCAGCCCAACGCTGTAGTTCCTGCAGCAGGGCCTTGCGCTGAAGCTGCTCTGAGGGCTCCCAGGTCACGGACGGGAACTCCCACAGTCCTGCCAGCAGACCTGAGAGGGAGGGCAGCCAGGCAGGGGTCAGGCCTCAGCTGCCGATTCCCTCCATTCTCTCTTGTTACTCATGCCACTGCCCTCCACGCCCAGTATCCAGGTACCTGAGTTGGGCCTCTGCACCAGCAGAATTTGGGCCCCAAGGGCCCCAGGCTGTTCCAGAACACAGGTGGCAGAGCTCTCCTCCCTGGGGGGCTTGCGGCTGGCCTTTCTGGGGAAGTTGACCACTCCCAGGGTCTGGTCCCAGGGCTCCGAGGGAGGCAGGCACAGGTGGCACTGTCCAGTGTTGGGAGCTGGGAACGGAGATCCCCGAACCCTACTCAAGCCAAGAGGGCTTTAGGGGCCAACCTAGAGAGTGGGCTTTGGCCGGGTTCTGCAGAATCTTACTCAGGTTAGAGGAAGAACTGGAATGGGGCTTCTGACTGGGCCAGGAAGGGTTGGGGTGGGGGCTAGGTTTGGTGCTCACCACACTCCTCCACGTCAGGACTGCCCGACAGGCTCCCTGAGGCTAAGAGCTGTTCCTGCTCCACCTGAGAGGCACAGGGTTGAGTGTCATAGGGCAGAGTCACTCCTTAGGACTTCTCACTGCCCCTTCCCCAGTAGGCTTACTCTCTGGCGTGCCCGGCACAGGCTCTCCACAGGGCACTGGCTGCACAGTGGGCGCTGTGGGGTACACACTGTGGCCCCTAGCTCCATGGCTGCTTGGTTGAAATCTCCTGGCCGGGCTGGGTCCACCAGCTGCTGGGCTAGACCCCTAAAAGAAGGGAACACTGCTGTGAAGCAGAGCTCCTTTGCAGACACCCCTGAAGCACCCTTGTTACCCCAACATCCTACCAGAGCTGCTGGGAAACAAGGGTGCTGCTGGGATCAGCACCAATGGCTCGGACACGGCACAGCACCCGTGCTACGTTGCCATCCACCACACCGGTTGCCTGGCACAGAGGGGCCAAAGAGTTAGCCTGGGCTGGGAGGAAGGAGGCTGGGCACGCACAAAGTGGGGGTGGGCTGTGAGATCACCTGGCCAAAGGCGATAGAGGCAATGGCCCCAGCTGTGTAGCGCCCCACGCCAGGCAGGAGCTGCTGCAGGGTCTCTGCTGTACGTGGCATGTGGCCCCCTAGCTCCTCTACCACCTGATTGGAGTGCAAGACTCAAGATTATAAGACACCCAAGACTCCTGGGTTCCTACCCTCCTGCCATCCCCTTACCTTCCGAGCTCCCTCCTGCAGCCGCCGGCCACGAGAATAGTAGCCCAGGCCAGCCCAGAGTTGATTCACCTCCTGTGGGTAGGATCAGAGGTCAAAGAGATCACCCGTCAGTCCCTCTATTGTTCCTATTTCCCCTACCCTAGGGTGGCTCTCACCTCCAGGGAAGCACTGGCCAGGTCCTGCAGTGTAGGCCACTTCTATAGCCACAGGCAGGCAGAAAGAGACAAGGTCAAGGGTGAAGGTGGTAGAGGAAGCCTTCTCTACACCCACCCCAAAGTAGAGGCTCTCATCTGGGGTCTGACCCATGACCCTTCCCTTCCTCCCCTGGAGTCACCTGCATCCATCCGGTATAGTAGTTGATCACAGTGGCAACCTGGGTCTGCTGCAGCATGACCTCTGAGACCCACACTGGGGGAAAGGGGTTGGCATGAGGACACTGCTGACCTGCCCCTACCTGGCCCACAGCCCCCAGACCCAAGGGCCTCGAGGCAAAGTGGCCCTGCTCTCAGGAGATGTACTGACCAGCATATGCCCGCCTGTCCAGGTCCATCTCATCTTCTGCCTGTCAATGCAACCCCAGATGAGGAGTTAGGGTGGAGGGGGCTGGGTGCCTGCCTCCCACCCACTGTCCCTGCTCCTCGCCTGCCTACCCGTCTTCTCCATGGTAGGTCCCGTTTCTCTTGGTCGTACCAGCTTAGCAGGCTCCCTCGGAAGGCTGTGACTTCAGCTACGTCTCTGAATAGATGGTATGAGGAGACAGAGGCCTGCAATACCACCTCTTCCGGCTGCCTGGCCAGGCCTGCTGGGGCCCCAGGACACTCAGCAATCATCCCTGCACAGGCTGTGCATCAGGGTCTTGGGACACAGCAGCCTGTGGCAGTATGCTCCCACTTAGGGCTTCCCCCAACTAACCCCCTTAAGCTTTGGAGCTGGAGTCAGACCAGAGTTATGTAATTGTGTGTAGCTGTGGCTAAGTTTCTGGCCTTAATTTTCTCAGGGTGGTACTACTGGCTTGTCTCTGAGCCATAATGAAAACCTAATAGTTTTAGCCAGCTAGAATGTATACTGGTGCAGGACCTTCCTATTCACAAAACACTTTCAGGCTCATAAACTCATTTGGTCCCATGAAAGCCACATGAGGGAGGAAATGCTGAACTACTGCTCCATTTTACTGGTAAGAAAGCAGCCATTCAGAGCAATTGTCCCAATGTCACACAGCAATACAGTCAGAATTACACCCTCAGTGAGTCTCTTTTGTTTTGAGACAAGAGTCTGGCTCTGTTGCCCAGACTGAAATGCAGTTGCATTATCTTGACTCAGTGCAACTTCTGCCTTCCAGGCTCAAGCGATCCTGTCACCTCAGCTTCCCGAGTAGCTGGGACTACAGACGCTCACCACCACGCGAGCATAGAGAGGGGATTTCGCCATGTTACCCAAGCTGGTCTCAAACTCCTGGGCTCAAGGGATCCACCTGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACCGCACCTGGCCCTTAGTAAGTCTCTTAATGTCTTGATACGTATCACAATCCCTTCCCAGCCTGAATCTGCCTTTCATGGCCAATGAGCCTTGGGCCACAACCTAGTTCCTTACCATCACAGGCAGAAGGCTTGGCCTGACTGTTGTTCTTAGCATGCTTCTGCCTCCCTTCCTGGCTGGCTGCCTGCTTCCTGTGACCACTTCCCACGGCTGCTCG
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TCCCTCCAGTGAAGCCTGGAGTGGAGAATGTTCACCCAGACATTCGTTAGTTAACTGACTAAAAACCTATGGACTCAGGCCTGGGGAGACACGGTTGGGAGAGGCCTAGGAGACTTACCATACAGGTCCCTGGCTGTTGGCCCTGATACACACGGAAAACCTAGACAAGAAGACAGGGAGGTGAGGGCTGGCACTTTTTGCAAAAGAGATAAACCGGTGTTCTGCCCTTAACTTCATGTCCCAGTACTTTTGTTTAAAATATGCTTTTTTGGCCAGGCATGGTGGCTCACGCCTATAATCCCAGCATTTTGGGAGGCCAAGTCGGGTGGATCACTTGAGGCCAGGAGTTTGAGACCAGCCTGGCCAACATGGTGAAACCCCATCTCTAAAAATACAAAAAATCATGGCTGGGTGTGGTAGCTCACACCTGTAATCCCAGCATTCTGGGAGGCTGAGGCGGGCGGATCACTTGAGGTCAAGAGTTGGAGACCAGCCTGGCCAGCATGGTGAAACCTCATCTCTACTAAAAATACAAAAATTAGCCAGGCATGGTGGCGGGCGCCTGTAATCCGAGCTACTCAGGAAGCTGAGGCAGGAGAATCACTTGAACCCGGGAGATGGAGGTTGCAGTCAACCGAGATAGCGCCATTGCACTCCAGCCTGGGCAACAGAGCGATTCTCCGTCTCAAAAAAAAATGCTTTTTTTCCTGTTTACACAGTAATATATTCATGTAGAACATGTAGGAAACACAAGGAAGTACAACAAAGACAACAAAGGTAGTGCCTTTTTCATGGCGGTGGAAACAGCTGCGGTGTGAAATTCCTCCTGCGTCAGCCAGCGAGCACCTGGTGGTACGGTGGTCACTGGGGTCTGCCCTTCCAAGGCCAGCCCATATACTTGATATGTCAGCTTGATGTGAGAGAAGGTGTGGACAACCTGGAGGAAGGGTCAAGGGGTTCAAATAGGCCTGTGGATATAGCCTCAAAAGCCAACATCCTTGGCTATTCCGCTGCTCACTTACCTCCCCAAGGTGCCGGAGGTGCGTGGCTGGGAGGGGCCCAGCCCAACGCTGTAGTTCCTGCAGCAGGGCCTTGCGCTGAAGCTGCTCTGAGGGCTCCCAGGTCACGGACGGGAACTCCCACAGTCCTGCCAGCAGACCTGAGAGGGAGGGCAGCCAGGCAGGGGTCAGGCCTCAGCTGCCGATTCCCTCCATTCTCTCTTGTTACTCATGCCACTGCCCTCCACGCCCAGTATCCAGGTACCTGAGTTGGGCCTCTGCACCAGCAGAATTTGGGCCCCAAGGGCCCCAGGCTGTTCCAGAACACAGGTGGCAGAGCTCTCCTCCCTGGGGGGCTTGCGGCTGGCCTTTCTGGGGAAGTTGACCACTCCCAGGGTCTGGTCCCAGGGCTCCGAGGGAGGCAGGCACAGGTGGCACTGTCCAGTGTTGGGAGCTGGGAACGGAGATCCCCGAACCCTACTCAAGCCAAGAGGGCTTTAGGGGCCAACCTAGAGAGTGGGCTTTGGCCGGGTTCTGCAGAATCTTACTCAGGTTAGAGGAAGAACTGGAATGGGGCTTCTGACTGGGCCAGGAAGGGTTGGGGTGGGGGCTAGGTTTGGTGCTCACCACACTCCTCCACGTCAGGACTGCCCGACAGGCTCCCTGAGGCTAAGAGCTGTTCCTGCTCCACCTGAGAGGCACAGGGTTGAGTGTCATAGGGCAGAGTCACTCCTTAGGACTTCTCACTGCCCCTTCCCCAGTAGGCTTACTCTCTGGCGTGCCCGGCACAGGCTCTCCACAGGGCACTGGCTGCACAGTGGGCGCTGTGGGGTACACACTGTGGCCCCTAGCTCCATGGCTGCTTGGTTGAAATCTCCTGGCCGGGCTGGGTCCACCAGCTGCTGGGCTAGACCCCTAAAAGAAGGGAACACTGCTGTGAAGCAGAGCTCCTTTGCAGACACCCCTGAAGCACCCTTGTTACCCCAACATCCTACCAGAGCTGCTGGGAAACAAGGGTGCTGCTGGGATCAGCACCAATGGCTCGGACACAGCACAGCACCCGTGCTACGTTGCCATCCACCACACCGGTTGCCTGGCACAGAGGGGCCAAAGAGTTAGCCTGGGCTGGGAGGAAGGAGGCTGGGCACGCACAAAGTGGGGGTGGGCTGTGAGATCACCTGGCCAAAGGCGATAGAGGCAATGGCCCCAGCTGTGTAGCGCCCCACGCCAGGCAGGAGCTGCTGCAGGGTCTCTGCTGTACGTGGCATGTGGCCCCCTAGCTCCTCTACCACCTGATTGGAGTGCAAGACTCAAGATTATAAGACACCCAAGACTCCTGGGTTCCTACCCTCCTGCCATCCCCTTACCTTCCGAGCTCCCTCCTGCAGCCGCCGGCCACGAGAATAGTAGCCCAGGCCAGCCCAGAGTTGATTCACCTCCTGTGGGTAGGATCAGAGGTCAAAGAGATCACCCGTCAGTCCCTCTATTGTTCCTATTTCCCCTACCCTAGGGTGGCTCTCACCTCCAGGGAAGCACTGGCCAGGTCCTGCAGTGTAGGCCACTTCTATAGCCACAGGCAGGCAGAAAGAGACAAGGTCAAGGGTGAAGGTGGTAGAGGAAGCCTTCTCTACACCCACCCCAAAGTAGAGGCTCTCATCTGGGGTCTGACCCATGACCCTTCCCTTCCTCCCCTGGAGTCACCTGCATCCATCCGGTATAGTAGTTGATCACAGTGGCAACCTGGGTCTGCTGCAGCATGACCTCTGAGACCCACACTGGGGGAAAGGGGTTGGCATGAGGACACTGCTGACCTGCCCCTACCTGGCCCACAGCCCCCAGACCCAAGGGCCTCGAGGCAAAGTGGCCCTGCTCTCAGGAGATGTACTGACCAGCATATGCCCGCCTGTCCAGGTCCATCTCATCTTCTGCCTGTCAATGCAACCCCAGATGAGGAGTTAGGGTGGAGGGGGCTGGGTGCCTGCCTCCCACCCACTGTCCCTGCTCCTCGCCTGCCTACCCGTCTTCTCCATGGTAGGTCCCGTTTCTCTTGGTCGTACCAGCTTAGCAGGCTCCCTCGGAAGGCTGTGACTTCAGCTACGTCTCTGAATAGATGGTATGAGGAGACAGAGGCCTGCAATACCACCTCTTCCGGCTGCCTGGCCAGGCCTGCTGGGGCCCCAGGACACTCAGCAATCATCCCTGCACAGGCTGTGCATCAGGGTCTTGGGACACAGCAGCCTGTGGCAGTATGCTCCCACTTAGGGCTTCCCCCAACTAACCCCCTTAAGCTTTGGAGCTGGAGTCAGACCAGAGTTATGTAATTGTGTGTAGCTGTGGCTAAGTTTCTGGCCTTAATTTTCTCAGGGTGGTACTACTGGCTTGTCTCTGAGCCATAATGAAAACCTAATAGTTTTAGCCAGCTAGAATGTATACTGGTGCAGGACCTTCCTATTCACAAAACACTTTCAGGCTCATAAACTCATTTGGTCCCATGAAAGCCACATGAGGGAGGAAATGCTGAACTACTGCTCCATTTTACTGGTAAGAAAGCAGCCATTCAGAGCAATTGTCCCAATGTCACACAGCAATACAGTCAGAATTACACCCTCAGTGAGTCTCTTTTGTTTTGAGACAAGAGTCTGGCTCTGTTGCCCAGACTGAAATGCAGTTGCATTATCTTGACTCAGTGCAACTTCTGCCTTCCAGGCTCAAGCGATCCTGTCACCTCAGCTTCCCGAGTAGCTGGGACTACAGACGCTCACCACCACGCGAGCATAGAGAGGGGATTTCGCCATGTTACCCAAGCTGGTCTCAAACTCCTGGGCTCAAGGGATCCACCTGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACCGCACCTGGCCCTTAGTAAGTCTCTTAATGTCTTGATACGTATCACAATCCCTTCCCAGCCTGAATCTGCCTTTCATGGCCAATGAGCCTTGGGCCACAACCTAGTTCCTTACCATCACAGGCAGAAGGCTTGGCCTGACTGTTGTTCTTAGCATGCTTCTGCCTCCCTTCCTGGCTGGCTGCCTGCTTCCTGTGACCACTTCCCACGGCTGCTCG
|
Task1_train_860
|
A variant on Chromosome 1 in gene MUTYH (mutY DNA glycosylase) has been observed. Is this a neutral mutation, or does it result in a disease? If so, which one?
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Pathogenic; Gastric cancer
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TCCCTCCAGTGAAGCCTGGAGTGGAGAATGTTCACCCAGACATTCGTTAGTTAACTGACTAAAAACCTATGGACTCAGGCCTGGGGAGACACGGTTGGGAGAGGCCTAGGAGACTTACCATACAGGTCCCTGGCTGTTGGCCCTGATACACACGGAAAACCTAGACAAGAAGACAGGGAGGTGAGGGCTGGCACTTTTTGCAAAAGAGATAAACCGGTGTTCTGCCCTTAACTTCATGTCCCAGTACTTTTGTTTAAAATATGCTTTTTTGGCCAGGCATGGTGGCTCACGCCTATAATCCCAGCATTTTGGGAGGCCAAGTCGGGTGGATCACTTGAGGCCAGGAGTTTGAGACCAGCCTGGCCAACATGGTGAAACCCCATCTCTAAAAATACAAAAAATCATGGCTGGGTGTGGTAGCTCACACCTGTAATCCCAGCATTCTGGGAGGCTGAGGCGGGCGGATCACTTGAGGTCAAGAGTTGGAGACCAGCCTGGCCAGCATGGTGAAACCTCATCTCTACTAAAAATACAAAAATTAGCCAGGCATGGTGGCGGGCGCCTGTAATCCGAGCTACTCAGGAAGCTGAGGCAGGAGAATCACTTGAACCCGGGAGATGGAGGTTGCAGTCAACCGAGATAGCGCCATTGCACTCCAGCCTGGGCAACAGAGCGATTCTCCGTCTCAAAAAAAAATGCTTTTTTTCCTGTTTACACAGTAATATATTCATGTAGAACATGTAGGAAACACAAGGAAGTACAACAAAGACAACAAAGGTAGTGCCTTTTTCATGGCGGTGGAAACAGCTGCGGTGTGAAATTCCTCCTGCGTCAGCCAGCGAGCACCTGGTGGTACGGTGGTCACTGGGGTCTGCCCTTCCAAGGCCAGCCCATATACTTGATATGTCAGCTTGATGTGAGAGAAGGTGTGGACAACCTGGAGGAAGGGTCAAGGGGTTCAAATAGGCCTGTGGATATAGCCTCAAAAGCCAACATCCTTGGCTATTCCGCTGCTCACTTACCTCCCCAAGGTGCCGGAGGTGCGTGGCTGGGAGGGGCCCAGCCCAACGCTGTAGTTCCTGCAGCAGGGCCTTGCGCTGAAGCTGCTCTGAGGGCTCCCAGGTCACGGACGGGAACTCCCACAGTCCTGCCAGCAGACCTGAGAGGGAGGGCAGCCAGGCAGGGGTCAGGCCTCAGCTGCCGATTCCCTCCATTCTCTCTTGTTACTCATGCCACTGCCCTCCACGCCCAGTATCCAGGTACCTGAGTTGGGCCTCTGCACCAGCAGAATTTGGGCCCCAAGGGCCCCAGGCTGTTCCAGAACACAGGTGGCAGAGCTCTCCTCCCTGGGGGGCTTGCGGCTGGCCTTTCTGGGGAAGTTGACCACTCCCAGGGTCTGGTCCCAGGGCTCCGAGGGAGGCAGGCACAGGTGGCACTGTCCAGTGTTGGGAGCTGGGAACGGAGATCCCCGAACCCTACTCAAGCCAAGAGGGCTTTAGGGGCCAACCTAGAGAGTGGGCTTTGGCCGGGTTCTGCAGAATCTTACTCAGGTTAGAGGAAGAACTGGAATGGGGCTTCTGACTGGGCCAGGAAGGGTTGGGGTGGGGGCTAGGTTTGGTGCTCACCACACTCCTCCACGTCAGGACTGCCCGACAGGCTCCCTGAGGCTAAGAGCTGTTCCTGCTCCACCTGAGAGGCACAGGGTTGAGTGTCATAGGGCAGAGTCACTCCTTAGGACTTCTCACTGCCCCTTCCCCAGTAGGCTTACTCTCTGGCGTGCCCGGCACAGGCTCTCCACAGGGCACTGGCTGCACAGTGGGCGCTGTGGGGTACACACTGTGGCCCCTAGCTCCATGGCTGCTTGGTTGAAATCTCCTGGCCGGGCTGGGTCCACCAGCTGCTGGGCTAGACCCCTAAAAGAAGGGAACACTGCTGTGAAGCAGAGCTCCTTTGCAGACACCCCTGAAGCACCCTTGTTACCCCAACATCCTACCAGAGCTGCTGGGAAACAAGGGTGCTGCTGGGATCAGCACCAATGGCTCGGACACGGCACAGCACCCGTGCTACGTTGCCATCCACCACACCGGTTGCCTGGCACAGAGGGGCCAAAGAGTTAGCCTGGGCTGGGAGGAAGGAGGCTGGGCACGCACAAAGTGGGGGTGGGCTGTGAGATCACCTGGCCAAAGGCGATAGAGGCAATGGCCCCAGCTGTGTAGCGCCCCACGCCAGGCAGGAGCTGCTGCAGGGTCTCTGCTGTACGTGGCATGTGGCCCCCTAGCTCCTCTACCACCTGATTGGAGTGCAAGACTCAAGATTATAAGACACCCAAGACTCCTGGGTTCCTACCCTCCTGCCATCCCCTTACCTTCCGAGCTCCCTCCTGCAGCCGCCGGCCACGAGAATAGTAGCCCAGGCCAGCCCAGAGTTGATTCACCTCCTGTGGGTAGGATCAGAGGTCAAAGAGATCACCCGTCAGTCCCTCTATTGTTCCTATTTCCCCTACCCTAGGGTGGCTCTCACCTCCAGGGAAGCACTGGCCAGGTCCTGCAGTGTAGGCCACTTCTATAGCCACAGGCAGGCAGAAAGAGACAAGGTCAAGGGTGAAGGTGGTAGAGGAAGCCTTCTCTACACCCACCCCAAAGTAGAGGCTCTCATCTGGGGTCTGACCCATGACCCTTCCCTTCCTCCCCTGGAGTCACCTGCATCCATCCGGTATAGTAGTTGATCACAGTGGCAACCTGGGTCTGCTGCAGCATGACCTCTGAGACCCACACTGGGGGAAAGGGGTTGGCATGAGGACACTGCTGACCTGCCCCTACCTGGCCCACAGCCCCCAGACCCAAGGGCCTCGAGGCAAAGTGGCCCTGCTCTCAGGAGATGTACTGACCAGCATATGCCCGCCTGTCCAGGTCCATCTCATCTTCTGCCTGTCAATGCAACCCCAGATGAGGAGTTAGGGTGGAGGGGGCTGGGTGCCTGCCTCCCACCCACTGTCCCTGCTCCTCGCCTGCCTACCCGTCTTCTCCATGGTAGGTCCCGTTTCTCTTGGTCGTACCAGCTTAGCAGGCTCCCTCGGAAGGCTGTGACTTCAGCTACGTCTCTGAATAGATGGTATGAGGAGACAGAGGCCTGCAATACCACCTCTTCCGGCTGCCTGGCCAGGCCTGCTGGGGCCCCAGGACACTCAGCAATCATCCCTGCACAGGCTGTGCATCAGGGTCTTGGGACACAGCAGCCTGTGGCAGTATGCTCCCACTTAGGGCTTCCCCCAACTAACCCCCTTAAGCTTTGGAGCTGGAGTCAGACCAGAGTTATGTAATTGTGTGTAGCTGTGGCTAAGTTTCTGGCCTTAATTTTCTCAGGGTGGTACTACTGGCTTGTCTCTGAGCCATAATGAAAACCTAATAGTTTTAGCCAGCTAGAATGTATACTGGTGCAGGACCTTCCTATTCACAAAACACTTTCAGGCTCATAAACTCATTTGGTCCCATGAAAGCCACATGAGGGAGGAAATGCTGAACTACTGCTCCATTTTACTGGTAAGAAAGCAGCCATTCAGAGCAATTGTCCCAATGTCACACAGCAATACAGTCAGAATTACACCCTCAGTGAGTCTCTTTTGTTTTGAGACAAGAGTCTGGCTCTGTTGCCCAGACTGAAATGCAGTTGCATTATCTTGACTCAGTGCAACTTCTGCCTTCCAGGCTCAAGCGATCCTGTCACCTCAGCTTCCCGAGTAGCTGGGACTACAGACGCTCACCACCACGCGAGCATAGAGAGGGGATTTCGCCATGTTACCCAAGCTGGTCTCAAACTCCTGGGCTCAAGGGATCCACCTGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACCGCACCTGGCCCTTAGTAAGTCTCTTAATGTCTTGATACGTATCACAATCCCTTCCCAGCCTGAATCTGCCTTTCATGGCCAATGAGCCTTGGGCCACAACCTAGTTCCTTACCATCACAGGCAGAAGGCTTGGCCTGACTGTTGTTCTTAGCATGCTTCTGCCTCCCTTCCTGGCTGGCTGCCTGCTTCCTGTGACCACTTCCCACGGCTGCTCG
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TCCCTCCAGTGAAGCCTGGAGTGGAGAATGTTCACCCAGACATTCGTTAGTTAACTGACTAAAAACCTATGGACTCAGGCCTGGGGAGACACGGTTGGGAGAGGCCTAGGAGACTTACCATACAGGTCCCTGGCTGTTGGCCCTGATACACACGGAAAACCTAGACAAGAAGACAGGGAGGTGAGGGCTGGCACTTTTTGCAAAAGAGATAAACCGGTGTTCTGCCCTTAACTTCATGTCCCAGTACTTTTGTTTAAAATATGCTTTTTTGGCCAGGCATGGTGGCTCACGCCTATAATCCCAGCATTTTGGGAGGCCAAGTCGGGTGGATCACTTGAGGCCAGGAGTTTGAGACCAGCCTGGCCAACATGGTGAAACCCCATCTCTAAAAATACAAAAAATCATGGCTGGGTGTGGTAGCTCACACCTGTAATCCCAGCATTCTGGGAGGCTGAGGCGGGCGGATCACTTGAGGTCAAGAGTTGGAGACCAGCCTGGCCAGCATGGTGAAACCTCATCTCTACTAAAAATACAAAAATTAGCCAGGCATGGTGGCGGGCGCCTGTAATCCGAGCTACTCAGGAAGCTGAGGCAGGAGAATCACTTGAACCCGGGAGATGGAGGTTGCAGTCAACCGAGATAGCGCCATTGCACTCCAGCCTGGGCAACAGAGCGATTCTCCGTCTCAAAAAAAAATGCTTTTTTTCCTGTTTACACAGTAATATATTCATGTAGAACATGTAGGAAACACAAGGAAGTACAACAAAGACAACAAAGGTAGTGCCTTTTTCATGGCGGTGGAAACAGCTGCGGTGTGAAATTCCTCCTGCGTCAGCCAGCGAGCACCTGGTGGTACGGTGGTCACTGGGGTCTGCCCTTCCAAGGCCAGCCCATATACTTGATATGTCAGCTTGATGTGAGAGAAGGTGTGGACAACCTGGAGGAAGGGTCAAGGGGTTCAAATAGGCCTGTGGATATAGCCTCAAAAGCCAACATCCTTGGCTATTCCGCTGCTCACTTACCTCCCCAAGGTGCCGGAGGTGCGTGGCTGGGAGGGGCCCAGCCCAACGCTGTAGTTCCTGCAGCAGGGCCTTGCGCTGAAGCTGCTCTGAGGGCTCCCAGGTCACGGACGGGAACTCCCACAGTCCTGCCAGCAGACCTGAGAGGGAGGGCAGCCAGGCAGGGGTCAGGCCTCAGCTGCCGATTCCCTCCATTCTCTCTTGTTACTCATGCCACTGCCCTCCACGCCCAGTATCCAGGTACCTGAGTTGGGCCTCTGCACCAGCAGAATTTGGGCCCCAAGGGCCCCAGGCTGTTCCAGAACACAGGTGGCAGAGCTCTCCTCCCTGGGGGGCTTGCGGCTGGCCTTTCTGGGGAAGTTGACCACTCCCAGGGTCTGGTCCCAGGGCTCCGAGGGAGGCAGGCACAGGTGGCACTGTCCAGTGTTGGGAGCTGGGAACGGAGATCCCCGAACCCTACTCAAGCCAAGAGGGCTTTAGGGGCCAACCTAGAGAGTGGGCTTTGGCCGGGTTCTGCAGAATCTTACTCAGGTTAGAGGAAGAACTGGAATGGGGCTTCTGACTGGGCCAGGAAGGGTTGGGGTGGGGGCTAGGTTTGGTGCTCACCACACTCCTCCACGTCAGGACTGCCCGACAGGCTCCCTGAGGCTAAGAGCTGTTCCTGCTCCACCTGAGAGGCACAGGGTTGAGTGTCATAGGGCAGAGTCACTCCTTAGGACTTCTCACTGCCCCTTCCCCAGTAGGCTTACTCTCTGGCGTGCCCGGCACAGGCTCTCCACAGGGCACTGGCTGCACAGTGGGCGCTGTGGGGTACACACTGTGGCCCCTAGCTCCATGGCTGCTTGGTTGAAATCTCCTGGCCGGGCTGGGTCCACCAGCTGCTGGGCTAGACCCCTAAAAGAAGGGAACACTGCTGTGAAGCAGAGCTCCTTTGCAGACACCCCTGAAGCACCCTTGTTACCCCAACATCCTACCAGAGCTGCTGGGAAACAAGGGTGCTGCTGGGATCAGCACCAATGGCTCGGACACAGCACAGCACCCGTGCTACGTTGCCATCCACCACACCGGTTGCCTGGCACAGAGGGGCCAAAGAGTTAGCCTGGGCTGGGAGGAAGGAGGCTGGGCACGCACAAAGTGGGGGTGGGCTGTGAGATCACCTGGCCAAAGGCGATAGAGGCAATGGCCCCAGCTGTGTAGCGCCCCACGCCAGGCAGGAGCTGCTGCAGGGTCTCTGCTGTACGTGGCATGTGGCCCCCTAGCTCCTCTACCACCTGATTGGAGTGCAAGACTCAAGATTATAAGACACCCAAGACTCCTGGGTTCCTACCCTCCTGCCATCCCCTTACCTTCCGAGCTCCCTCCTGCAGCCGCCGGCCACGAGAATAGTAGCCCAGGCCAGCCCAGAGTTGATTCACCTCCTGTGGGTAGGATCAGAGGTCAAAGAGATCACCCGTCAGTCCCTCTATTGTTCCTATTTCCCCTACCCTAGGGTGGCTCTCACCTCCAGGGAAGCACTGGCCAGGTCCTGCAGTGTAGGCCACTTCTATAGCCACAGGCAGGCAGAAAGAGACAAGGTCAAGGGTGAAGGTGGTAGAGGAAGCCTTCTCTACACCCACCCCAAAGTAGAGGCTCTCATCTGGGGTCTGACCCATGACCCTTCCCTTCCTCCCCTGGAGTCACCTGCATCCATCCGGTATAGTAGTTGATCACAGTGGCAACCTGGGTCTGCTGCAGCATGACCTCTGAGACCCACACTGGGGGAAAGGGGTTGGCATGAGGACACTGCTGACCTGCCCCTACCTGGCCCACAGCCCCCAGACCCAAGGGCCTCGAGGCAAAGTGGCCCTGCTCTCAGGAGATGTACTGACCAGCATATGCCCGCCTGTCCAGGTCCATCTCATCTTCTGCCTGTCAATGCAACCCCAGATGAGGAGTTAGGGTGGAGGGGGCTGGGTGCCTGCCTCCCACCCACTGTCCCTGCTCCTCGCCTGCCTACCCGTCTTCTCCATGGTAGGTCCCGTTTCTCTTGGTCGTACCAGCTTAGCAGGCTCCCTCGGAAGGCTGTGACTTCAGCTACGTCTCTGAATAGATGGTATGAGGAGACAGAGGCCTGCAATACCACCTCTTCCGGCTGCCTGGCCAGGCCTGCTGGGGCCCCAGGACACTCAGCAATCATCCCTGCACAGGCTGTGCATCAGGGTCTTGGGACACAGCAGCCTGTGGCAGTATGCTCCCACTTAGGGCTTCCCCCAACTAACCCCCTTAAGCTTTGGAGCTGGAGTCAGACCAGAGTTATGTAATTGTGTGTAGCTGTGGCTAAGTTTCTGGCCTTAATTTTCTCAGGGTGGTACTACTGGCTTGTCTCTGAGCCATAATGAAAACCTAATAGTTTTAGCCAGCTAGAATGTATACTGGTGCAGGACCTTCCTATTCACAAAACACTTTCAGGCTCATAAACTCATTTGGTCCCATGAAAGCCACATGAGGGAGGAAATGCTGAACTACTGCTCCATTTTACTGGTAAGAAAGCAGCCATTCAGAGCAATTGTCCCAATGTCACACAGCAATACAGTCAGAATTACACCCTCAGTGAGTCTCTTTTGTTTTGAGACAAGAGTCTGGCTCTGTTGCCCAGACTGAAATGCAGTTGCATTATCTTGACTCAGTGCAACTTCTGCCTTCCAGGCTCAAGCGATCCTGTCACCTCAGCTTCCCGAGTAGCTGGGACTACAGACGCTCACCACCACGCGAGCATAGAGAGGGGATTTCGCCATGTTACCCAAGCTGGTCTCAAACTCCTGGGCTCAAGGGATCCACCTGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACCGCACCTGGCCCTTAGTAAGTCTCTTAATGTCTTGATACGTATCACAATCCCTTCCCAGCCTGAATCTGCCTTTCATGGCCAATGAGCCTTGGGCCACAACCTAGTTCCTTACCATCACAGGCAGAAGGCTTGGCCTGACTGTTGTTCTTAGCATGCTTCTGCCTCCCTTCCTGGCTGGCTGCCTGCTTCCTGTGACCACTTCCCACGGCTGCTCG
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Task1_train_861
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The gene MUTYH (mutY DNA glycosylase) is located on Chromosome 1, where a mutation has occurred. What is the medical relevance of this mutation?
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Pathogenic; Hereditary cancer-predisposing syndrome
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TCCCTCCAGTGAAGCCTGGAGTGGAGAATGTTCACCCAGACATTCGTTAGTTAACTGACTAAAAACCTATGGACTCAGGCCTGGGGAGACACGGTTGGGAGAGGCCTAGGAGACTTACCATACAGGTCCCTGGCTGTTGGCCCTGATACACACGGAAAACCTAGACAAGAAGACAGGGAGGTGAGGGCTGGCACTTTTTGCAAAAGAGATAAACCGGTGTTCTGCCCTTAACTTCATGTCCCAGTACTTTTGTTTAAAATATGCTTTTTTGGCCAGGCATGGTGGCTCACGCCTATAATCCCAGCATTTTGGGAGGCCAAGTCGGGTGGATCACTTGAGGCCAGGAGTTTGAGACCAGCCTGGCCAACATGGTGAAACCCCATCTCTAAAAATACAAAAAATCATGGCTGGGTGTGGTAGCTCACACCTGTAATCCCAGCATTCTGGGAGGCTGAGGCGGGCGGATCACTTGAGGTCAAGAGTTGGAGACCAGCCTGGCCAGCATGGTGAAACCTCATCTCTACTAAAAATACAAAAATTAGCCAGGCATGGTGGCGGGCGCCTGTAATCCGAGCTACTCAGGAAGCTGAGGCAGGAGAATCACTTGAACCCGGGAGATGGAGGTTGCAGTCAACCGAGATAGCGCCATTGCACTCCAGCCTGGGCAACAGAGCGATTCTCCGTCTCAAAAAAAAATGCTTTTTTTCCTGTTTACACAGTAATATATTCATGTAGAACATGTAGGAAACACAAGGAAGTACAACAAAGACAACAAAGGTAGTGCCTTTTTCATGGCGGTGGAAACAGCTGCGGTGTGAAATTCCTCCTGCGTCAGCCAGCGAGCACCTGGTGGTACGGTGGTCACTGGGGTCTGCCCTTCCAAGGCCAGCCCATATACTTGATATGTCAGCTTGATGTGAGAGAAGGTGTGGACAACCTGGAGGAAGGGTCAAGGGGTTCAAATAGGCCTGTGGATATAGCCTCAAAAGCCAACATCCTTGGCTATTCCGCTGCTCACTTACCTCCCCAAGGTGCCGGAGGTGCGTGGCTGGGAGGGGCCCAGCCCAACGCTGTAGTTCCTGCAGCAGGGCCTTGCGCTGAAGCTGCTCTGAGGGCTCCCAGGTCACGGACGGGAACTCCCACAGTCCTGCCAGCAGACCTGAGAGGGAGGGCAGCCAGGCAGGGGTCAGGCCTCAGCTGCCGATTCCCTCCATTCTCTCTTGTTACTCATGCCACTGCCCTCCACGCCCAGTATCCAGGTACCTGAGTTGGGCCTCTGCACCAGCAGAATTTGGGCCCCAAGGGCCCCAGGCTGTTCCAGAACACAGGTGGCAGAGCTCTCCTCCCTGGGGGGCTTGCGGCTGGCCTTTCTGGGGAAGTTGACCACTCCCAGGGTCTGGTCCCAGGGCTCCGAGGGAGGCAGGCACAGGTGGCACTGTCCAGTGTTGGGAGCTGGGAACGGAGATCCCCGAACCCTACTCAAGCCAAGAGGGCTTTAGGGGCCAACCTAGAGAGTGGGCTTTGGCCGGGTTCTGCAGAATCTTACTCAGGTTAGAGGAAGAACTGGAATGGGGCTTCTGACTGGGCCAGGAAGGGTTGGGGTGGGGGCTAGGTTTGGTGCTCACCACACTCCTCCACGTCAGGACTGCCCGACAGGCTCCCTGAGGCTAAGAGCTGTTCCTGCTCCACCTGAGAGGCACAGGGTTGAGTGTCATAGGGCAGAGTCACTCCTTAGGACTTCTCACTGCCCCTTCCCCAGTAGGCTTACTCTCTGGCGTGCCCGGCACAGGCTCTCCACAGGGCACTGGCTGCACAGTGGGCGCTGTGGGGTACACACTGTGGCCCCTAGCTCCATGGCTGCTTGGTTGAAATCTCCTGGCCGGGCTGGGTCCACCAGCTGCTGGGCTAGACCCCTAAAAGAAGGGAACACTGCTGTGAAGCAGAGCTCCTTTGCAGACACCCCTGAAGCACCCTTGTTACCCCAACATCCTACCAGAGCTGCTGGGAAACAAGGGTGCTGCTGGGATCAGCACCAATGGCTCGGACACGGCACAGCACCCGTGCTACGTTGCCATCCACCACACCGGTTGCCTGGCACAGAGGGGCCAAAGAGTTAGCCTGGGCTGGGAGGAAGGAGGCTGGGCACGCACAAAGTGGGGGTGGGCTGTGAGATCACCTGGCCAAAGGCGATAGAGGCAATGGCCCCAGCTGTGTAGCGCCCCACGCCAGGCAGGAGCTGCTGCAGGGTCTCTGCTGTACGTGGCATGTGGCCCCCTAGCTCCTCTACCACCTGATTGGAGTGCAAGACTCAAGATTATAAGACACCCAAGACTCCTGGGTTCCTACCCTCCTGCCATCCCCTTACCTTCCGAGCTCCCTCCTGCAGCCGCCGGCCACGAGAATAGTAGCCCAGGCCAGCCCAGAGTTGATTCACCTCCTGTGGGTAGGATCAGAGGTCAAAGAGATCACCCGTCAGTCCCTCTATTGTTCCTATTTCCCCTACCCTAGGGTGGCTCTCACCTCCAGGGAAGCACTGGCCAGGTCCTGCAGTGTAGGCCACTTCTATAGCCACAGGCAGGCAGAAAGAGACAAGGTCAAGGGTGAAGGTGGTAGAGGAAGCCTTCTCTACACCCACCCCAAAGTAGAGGCTCTCATCTGGGGTCTGACCCATGACCCTTCCCTTCCTCCCCTGGAGTCACCTGCATCCATCCGGTATAGTAGTTGATCACAGTGGCAACCTGGGTCTGCTGCAGCATGACCTCTGAGACCCACACTGGGGGAAAGGGGTTGGCATGAGGACACTGCTGACCTGCCCCTACCTGGCCCACAGCCCCCAGACCCAAGGGCCTCGAGGCAAAGTGGCCCTGCTCTCAGGAGATGTACTGACCAGCATATGCCCGCCTGTCCAGGTCCATCTCATCTTCTGCCTGTCAATGCAACCCCAGATGAGGAGTTAGGGTGGAGGGGGCTGGGTGCCTGCCTCCCACCCACTGTCCCTGCTCCTCGCCTGCCTACCCGTCTTCTCCATGGTAGGTCCCGTTTCTCTTGGTCGTACCAGCTTAGCAGGCTCCCTCGGAAGGCTGTGACTTCAGCTACGTCTCTGAATAGATGGTATGAGGAGACAGAGGCCTGCAATACCACCTCTTCCGGCTGCCTGGCCAGGCCTGCTGGGGCCCCAGGACACTCAGCAATCATCCCTGCACAGGCTGTGCATCAGGGTCTTGGGACACAGCAGCCTGTGGCAGTATGCTCCCACTTAGGGCTTCCCCCAACTAACCCCCTTAAGCTTTGGAGCTGGAGTCAGACCAGAGTTATGTAATTGTGTGTAGCTGTGGCTAAGTTTCTGGCCTTAATTTTCTCAGGGTGGTACTACTGGCTTGTCTCTGAGCCATAATGAAAACCTAATAGTTTTAGCCAGCTAGAATGTATACTGGTGCAGGACCTTCCTATTCACAAAACACTTTCAGGCTCATAAACTCATTTGGTCCCATGAAAGCCACATGAGGGAGGAAATGCTGAACTACTGCTCCATTTTACTGGTAAGAAAGCAGCCATTCAGAGCAATTGTCCCAATGTCACACAGCAATACAGTCAGAATTACACCCTCAGTGAGTCTCTTTTGTTTTGAGACAAGAGTCTGGCTCTGTTGCCCAGACTGAAATGCAGTTGCATTATCTTGACTCAGTGCAACTTCTGCCTTCCAGGCTCAAGCGATCCTGTCACCTCAGCTTCCCGAGTAGCTGGGACTACAGACGCTCACCACCACGCGAGCATAGAGAGGGGATTTCGCCATGTTACCCAAGCTGGTCTCAAACTCCTGGGCTCAAGGGATCCACCTGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACCGCACCTGGCCCTTAGTAAGTCTCTTAATGTCTTGATACGTATCACAATCCCTTCCCAGCCTGAATCTGCCTTTCATGGCCAATGAGCCTTGGGCCACAACCTAGTTCCTTACCATCACAGGCAGAAGGCTTGGCCTGACTGTTGTTCTTAGCATGCTTCTGCCTCCCTTCCTGGCTGGCTGCCTGCTTCCTGTGACCACTTCCCACGGCTGCTCG
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TCCCTCCAGTGAAGCCTGGAGTGGAGAATGTTCACCCAGACATTCGTTAGTTAACTGACTAAAAACCTATGGACTCAGGCCTGGGGAGACACGGTTGGGAGAGGCCTAGGAGACTTACCATACAGGTCCCTGGCTGTTGGCCCTGATACACACGGAAAACCTAGACAAGAAGACAGGGAGGTGAGGGCTGGCACTTTTTGCAAAAGAGATAAACCGGTGTTCTGCCCTTAACTTCATGTCCCAGTACTTTTGTTTAAAATATGCTTTTTTGGCCAGGCATGGTGGCTCACGCCTATAATCCCAGCATTTTGGGAGGCCAAGTCGGGTGGATCACTTGAGGCCAGGAGTTTGAGACCAGCCTGGCCAACATGGTGAAACCCCATCTCTAAAAATACAAAAAATCATGGCTGGGTGTGGTAGCTCACACCTGTAATCCCAGCATTCTGGGAGGCTGAGGCGGGCGGATCACTTGAGGTCAAGAGTTGGAGACCAGCCTGGCCAGCATGGTGAAACCTCATCTCTACTAAAAATACAAAAATTAGCCAGGCATGGTGGCGGGCGCCTGTAATCCGAGCTACTCAGGAAGCTGAGGCAGGAGAATCACTTGAACCCGGGAGATGGAGGTTGCAGTCAACCGAGATAGCGCCATTGCACTCCAGCCTGGGCAACAGAGCGATTCTCCGTCTCAAAAAAAAATGCTTTTTTTCCTGTTTACACAGTAATATATTCATGTAGAACATGTAGGAAACACAAGGAAGTACAACAAAGACAACAAAGGTAGTGCCTTTTTCATGGCGGTGGAAACAGCTGCGGTGTGAAATTCCTCCTGCGTCAGCCAGCGAGCACCTGGTGGTACGGTGGTCACTGGGGTCTGCCCTTCCAAGGCCAGCCCATATACTTGATATGTCAGCTTGATGTGAGAGAAGGTGTGGACAACCTGGAGGAAGGGTCAAGGGGTTCAAATAGGCCTGTGGATATAGCCTCAAAAGCCAACATCCTTGGCTATTCCGCTGCTCACTTACCTCCCCAAGGTGCCGGAGGTGCGTGGCTGGGAGGGGCCCAGCCCAACGCTGTAGTTCCTGCAGCAGGGCCTTGCGCTGAAGCTGCTCTGAGGGCTCCCAGGTCACGGACGGGAACTCCCACAGTCCTGCCAGCAGACCTGAGAGGGAGGGCAGCCAGGCAGGGGTCAGGCCTCAGCTGCCGATTCCCTCCATTCTCTCTTGTTACTCATGCCACTGCCCTCCACGCCCAGTATCCAGGTACCTGAGTTGGGCCTCTGCACCAGCAGAATTTGGGCCCCAAGGGCCCCAGGCTGTTCCAGAACACAGGTGGCAGAGCTCTCCTCCCTGGGGGGCTTGCGGCTGGCCTTTCTGGGGAAGTTGACCACTCCCAGGGTCTGGTCCCAGGGCTCCGAGGGAGGCAGGCACAGGTGGCACTGTCCAGTGTTGGGAGCTGGGAACGGAGATCCCCGAACCCTACTCAAGCCAAGAGGGCTTTAGGGGCCAACCTAGAGAGTGGGCTTTGGCCGGGTTCTGCAGAATCTTACTCAGGTTAGAGGAAGAACTGGAATGGGGCTTCTGACTGGGCCAGGAAGGGTTGGGGTGGGGGCTAGGTTTGGTGCTCACCACACTCCTCCACGTCAGGACTGCCCGACAGGCTCCCTGAGGCTAAGAGCTGTTCCTGCTCCACCTGAGAGGCACAGGGTTGAGTGTCATAGGGCAGAGTCACTCCTTAGGACTTCTCACTGCCCCTTCCCCAGTAGGCTTACTCTCTGGCGTGCCCGGCACAGGCTCTCCACAGGGCACTGGCTGCACAGTGGGCGCTGTGGGGTACACACTGTGGCCCCTAGCTCCATGGCTGCTTGGTTGAAATCTCCTGGCCGGGCTGGGTCCACCAGCTGCTGGGCTAGACCCCTAAAAGAAGGGAACACTGCTGTGAAGCAGAGCTCCTTTGCAGACACCCCTGAAGCACCCTTGTTACCCCAACATCCTACCAGAGCTGCTGGGAAACAAGGGTGCTGCTGGGATCAGCACCAATGGCTCGGACACAGCACAGCACCCGTGCTACGTTGCCATCCACCACACCGGTTGCCTGGCACAGAGGGGCCAAAGAGTTAGCCTGGGCTGGGAGGAAGGAGGCTGGGCACGCACAAAGTGGGGGTGGGCTGTGAGATCACCTGGCCAAAGGCGATAGAGGCAATGGCCCCAGCTGTGTAGCGCCCCACGCCAGGCAGGAGCTGCTGCAGGGTCTCTGCTGTACGTGGCATGTGGCCCCCTAGCTCCTCTACCACCTGATTGGAGTGCAAGACTCAAGATTATAAGACACCCAAGACTCCTGGGTTCCTACCCTCCTGCCATCCCCTTACCTTCCGAGCTCCCTCCTGCAGCCGCCGGCCACGAGAATAGTAGCCCAGGCCAGCCCAGAGTTGATTCACCTCCTGTGGGTAGGATCAGAGGTCAAAGAGATCACCCGTCAGTCCCTCTATTGTTCCTATTTCCCCTACCCTAGGGTGGCTCTCACCTCCAGGGAAGCACTGGCCAGGTCCTGCAGTGTAGGCCACTTCTATAGCCACAGGCAGGCAGAAAGAGACAAGGTCAAGGGTGAAGGTGGTAGAGGAAGCCTTCTCTACACCCACCCCAAAGTAGAGGCTCTCATCTGGGGTCTGACCCATGACCCTTCCCTTCCTCCCCTGGAGTCACCTGCATCCATCCGGTATAGTAGTTGATCACAGTGGCAACCTGGGTCTGCTGCAGCATGACCTCTGAGACCCACACTGGGGGAAAGGGGTTGGCATGAGGACACTGCTGACCTGCCCCTACCTGGCCCACAGCCCCCAGACCCAAGGGCCTCGAGGCAAAGTGGCCCTGCTCTCAGGAGATGTACTGACCAGCATATGCCCGCCTGTCCAGGTCCATCTCATCTTCTGCCTGTCAATGCAACCCCAGATGAGGAGTTAGGGTGGAGGGGGCTGGGTGCCTGCCTCCCACCCACTGTCCCTGCTCCTCGCCTGCCTACCCGTCTTCTCCATGGTAGGTCCCGTTTCTCTTGGTCGTACCAGCTTAGCAGGCTCCCTCGGAAGGCTGTGACTTCAGCTACGTCTCTGAATAGATGGTATGAGGAGACAGAGGCCTGCAATACCACCTCTTCCGGCTGCCTGGCCAGGCCTGCTGGGGCCCCAGGACACTCAGCAATCATCCCTGCACAGGCTGTGCATCAGGGTCTTGGGACACAGCAGCCTGTGGCAGTATGCTCCCACTTAGGGCTTCCCCCAACTAACCCCCTTAAGCTTTGGAGCTGGAGTCAGACCAGAGTTATGTAATTGTGTGTAGCTGTGGCTAAGTTTCTGGCCTTAATTTTCTCAGGGTGGTACTACTGGCTTGTCTCTGAGCCATAATGAAAACCTAATAGTTTTAGCCAGCTAGAATGTATACTGGTGCAGGACCTTCCTATTCACAAAACACTTTCAGGCTCATAAACTCATTTGGTCCCATGAAAGCCACATGAGGGAGGAAATGCTGAACTACTGCTCCATTTTACTGGTAAGAAAGCAGCCATTCAGAGCAATTGTCCCAATGTCACACAGCAATACAGTCAGAATTACACCCTCAGTGAGTCTCTTTTGTTTTGAGACAAGAGTCTGGCTCTGTTGCCCAGACTGAAATGCAGTTGCATTATCTTGACTCAGTGCAACTTCTGCCTTCCAGGCTCAAGCGATCCTGTCACCTCAGCTTCCCGAGTAGCTGGGACTACAGACGCTCACCACCACGCGAGCATAGAGAGGGGATTTCGCCATGTTACCCAAGCTGGTCTCAAACTCCTGGGCTCAAGGGATCCACCTGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACCGCACCTGGCCCTTAGTAAGTCTCTTAATGTCTTGATACGTATCACAATCCCTTCCCAGCCTGAATCTGCCTTTCATGGCCAATGAGCCTTGGGCCACAACCTAGTTCCTTACCATCACAGGCAGAAGGCTTGGCCTGACTGTTGTTCTTAGCATGCTTCTGCCTCCCTTCCTGGCTGGCTGCCTGCTTCCTGTGACCACTTCCCACGGCTGCTCG
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Task1_train_862
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This alteration occurs within gene MUTYH (mutY DNA glycosylase) located on Chromosome 1. Is it associated with a disease or is it a benign variant?
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Pathogenic; not specified
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TTGAGACCAGCCTGGCCAACATGGTGAAACCCCATCTCTAAAAATACAAAAAATCATGGCTGGGTGTGGTAGCTCACACCTGTAATCCCAGCATTCTGGGAGGCTGAGGCGGGCGGATCACTTGAGGTCAAGAGTTGGAGACCAGCCTGGCCAGCATGGTGAAACCTCATCTCTACTAAAAATACAAAAATTAGCCAGGCATGGTGGCGGGCGCCTGTAATCCGAGCTACTCAGGAAGCTGAGGCAGGAGAATCACTTGAACCCGGGAGATGGAGGTTGCAGTCAACCGAGATAGCGCCATTGCACTCCAGCCTGGGCAACAGAGCGATTCTCCGTCTCAAAAAAAAATGCTTTTTTTCCTGTTTACACAGTAATATATTCATGTAGAACATGTAGGAAACACAAGGAAGTACAACAAAGACAACAAAGGTAGTGCCTTTTTCATGGCGGTGGAAACAGCTGCGGTGTGAAATTCCTCCTGCGTCAGCCAGCGAGCACCTGGTGGTACGGTGGTCACTGGGGTCTGCCCTTCCAAGGCCAGCCCATATACTTGATATGTCAGCTTGATGTGAGAGAAGGTGTGGACAACCTGGAGGAAGGGTCAAGGGGTTCAAATAGGCCTGTGGATATAGCCTCAAAAGCCAACATCCTTGGCTATTCCGCTGCTCACTTACCTCCCCAAGGTGCCGGAGGTGCGTGGCTGGGAGGGGCCCAGCCCAACGCTGTAGTTCCTGCAGCAGGGCCTTGCGCTGAAGCTGCTCTGAGGGCTCCCAGGTCACGGACGGGAACTCCCACAGTCCTGCCAGCAGACCTGAGAGGGAGGGCAGCCAGGCAGGGGTCAGGCCTCAGCTGCCGATTCCCTCCATTCTCTCTTGTTACTCATGCCACTGCCCTCCACGCCCAGTATCCAGGTACCTGAGTTGGGCCTCTGCACCAGCAGAATTTGGGCCCCAAGGGCCCCAGGCTGTTCCAGAACACAGGTGGCAGAGCTCTCCTCCCTGGGGGGCTTGCGGCTGGCCTTTCTGGGGAAGTTGACCACTCCCAGGGTCTGGTCCCAGGGCTCCGAGGGAGGCAGGCACAGGTGGCACTGTCCAGTGTTGGGAGCTGGGAACGGAGATCCCCGAACCCTACTCAAGCCAAGAGGGCTTTAGGGGCCAACCTAGAGAGTGGGCTTTGGCCGGGTTCTGCAGAATCTTACTCAGGTTAGAGGAAGAACTGGAATGGGGCTTCTGACTGGGCCAGGAAGGGTTGGGGTGGGGGCTAGGTTTGGTGCTCACCACACTCCTCCACGTCAGGACTGCCCGACAGGCTCCCTGAGGCTAAGAGCTGTTCCTGCTCCACCTGAGAGGCACAGGGTTGAGTGTCATAGGGCAGAGTCACTCCTTAGGACTTCTCACTGCCCCTTCCCCAGTAGGCTTACTCTCTGGCGTGCCCGGCACAGGCTCTCCACAGGGCACTGGCTGCACAGTGGGCGCTGTGGGGTACACACTGTGGCCCCTAGCTCCATGGCTGCTTGGTTGAAATCTCCTGGCCGGGCTGGGTCCACCAGCTGCTGGGCTAGACCCCTAAAAGAAGGGAACACTGCTGTGAAGCAGAGCTCCTTTGCAGACACCCCTGAAGCACCCTTGTTACCCCAACATCCTACCAGAGCTGCTGGGAAACAAGGGTGCTGCTGGGATCAGCACCAATGGCTCGGACACGGCACAGCACCCGTGCTACGTTGCCATCCACCACACCGGTTGCCTGGCACAGAGGGGCCAAAGAGTTAGCCTGGGCTGGGAGGAAGGAGGCTGGGCACGCACAAAGTGGGGGTGGGCTGTGAGATCACCTGGCCAAAGGCGATAGAGGCAATGGCCCCAGCTGTGTAGCGCCCCACGCCAGGCAGGAGCTGCTGCAGGGTCTCTGCTGTACGTGGCATGTGGCCCCCTAGCTCCTCTACCACCTGATTGGAGTGCAAGACTCAAGATTATAAGACACCCAAGACTCCTGGGTTCCTACCCTCCTGCCATCCCCTTACCTTCCGAGCTCCCTCCTGCAGCCGCCGGCCACGAGAATAGTAGCCCAGGCCAGCCCAGAGTTGATTCACCTCCTGTGGGTAGGATCAGAGGTCAAAGAGATCACCCGTCAGTCCCTCTATTGTTCCTATTTCCCCTACCCTAGGGTGGCTCTCACCTCCAGGGAAGCACTGGCCAGGTCCTGCAGTGTAGGCCACTTCTATAGCCACAGGCAGGCAGAAAGAGACAAGGTCAAGGGTGAAGGTGGTAGAGGAAGCCTTCTCTACACCCACCCCAAAGTAGAGGCTCTCATCTGGGGTCTGACCCATGACCCTTCCCTTCCTCCCCTGGAGTCACCTGCATCCATCCGGTATAGTAGTTGATCACAGTGGCAACCTGGGTCTGCTGCAGCATGACCTCTGAGACCCACACTGGGGGAAAGGGGTTGGCATGAGGACACTGCTGACCTGCCCCTACCTGGCCCACAGCCCCCAGACCCAAGGGCCTCGAGGCAAAGTGGCCCTGCTCTCAGGAGATGTACTGACCAGCATATGCCCGCCTGTCCAGGTCCATCTCATCTTCTGCCTGTCAATGCAACCCCAGATGAGGAGTTAGGGTGGAGGGGGCTGGGTGCCTGCCTCCCACCCACTGTCCCTGCTCCTCGCCTGCCTACCCGTCTTCTCCATGGTAGGTCCCGTTTCTCTTGGTCGTACCAGCTTAGCAGGCTCCCTCGGAAGGCTGTGACTTCAGCTACGTCTCTGAATAGATGGTATGAGGAGACAGAGGCCTGCAATACCACCTCTTCCGGCTGCCTGGCCAGGCCTGCTGGGGCCCCAGGACACTCAGCAATCATCCCTGCACAGGCTGTGCATCAGGGTCTTGGGACACAGCAGCCTGTGGCAGTATGCTCCCACTTAGGGCTTCCCCCAACTAACCCCCTTAAGCTTTGGAGCTGGAGTCAGACCAGAGTTATGTAATTGTGTGTAGCTGTGGCTAAGTTTCTGGCCTTAATTTTCTCAGGGTGGTACTACTGGCTTGTCTCTGAGCCATAATGAAAACCTAATAGTTTTAGCCAGCTAGAATGTATACTGGTGCAGGACCTTCCTATTCACAAAACACTTTCAGGCTCATAAACTCATTTGGTCCCATGAAAGCCACATGAGGGAGGAAATGCTGAACTACTGCTCCATTTTACTGGTAAGAAAGCAGCCATTCAGAGCAATTGTCCCAATGTCACACAGCAATACAGTCAGAATTACACCCTCAGTGAGTCTCTTTTGTTTTGAGACAAGAGTCTGGCTCTGTTGCCCAGACTGAAATGCAGTTGCATTATCTTGACTCAGTGCAACTTCTGCCTTCCAGGCTCAAGCGATCCTGTCACCTCAGCTTCCCGAGTAGCTGGGACTACAGACGCTCACCACCACGCGAGCATAGAGAGGGGATTTCGCCATGTTACCCAAGCTGGTCTCAAACTCCTGGGCTCAAGGGATCCACCTGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACCGCACCTGGCCCTTAGTAAGTCTCTTAATGTCTTGATACGTATCACAATCCCTTCCCAGCCTGAATCTGCCTTTCATGGCCAATGAGCCTTGGGCCACAACCTAGTTCCTTACCATCACAGGCAGAAGGCTTGGCCTGACTGTTGTTCTTAGCATGCTTCTGCCTCCCTTCCTGGCTGGCTGCCTGCTTCCTGTGACCACTTCCCACGGCTGCTCGTGGCTTCCTCATGATGGCCTGAAACAAAAAGACCCAGCCAAAGCAGTCAGTCACAATGAGGCCAAATTTTGAGGCCTTCCAAGGGTGATAGCTATCTCCCTCTCATCCACCATTCACATGGGGTCCAGCTTCTCTCAAGCACTCTCAAGATGCTCACGGGTTTACTCTTGGCTGGCTGCAGCACTGAGATACAACTAGTATAGCTGAGCAAGTGGCCTCAAGGGGGCCGGCGTTACAGCCCTGGAGACATGCAAAGACTGTGAGGCCAGGGCTGGGATGGGTCAAGGATGAAAGCCTCCTGTTTGGGAGCATTTGTGTATCTCTGATGCTTACTGTGACTGTGTGTGT
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TTGAGACCAGCCTGGCCAACATGGTGAAACCCCATCTCTAAAAATACAAAAAATCATGGCTGGGTGTGGTAGCTCACACCTGTAATCCCAGCATTCTGGGAGGCTGAGGCGGGCGGATCACTTGAGGTCAAGAGTTGGAGACCAGCCTGGCCAGCATGGTGAAACCTCATCTCTACTAAAAATACAAAAATTAGCCAGGCATGGTGGCGGGCGCCTGTAATCCGAGCTACTCAGGAAGCTGAGGCAGGAGAATCACTTGAACCCGGGAGATGGAGGTTGCAGTCAACCGAGATAGCGCCATTGCACTCCAGCCTGGGCAACAGAGCGATTCTCCGTCTCAAAAAAAAATGCTTTTTTTCCTGTTTACACAGTAATATATTCATGTAGAACATGTAGGAAACACAAGGAAGTACAACAAAGACAACAAAGGTAGTGCCTTTTTCATGGCGGTGGAAACAGCTGCGGTGTGAAATTCCTCCTGCGTCAGCCAGCGAGCACCTGGTGGTACGGTGGTCACTGGGGTCTGCCCTTCCAAGGCCAGCCCATATACTTGATATGTCAGCTTGATGTGAGAGAAGGTGTGGACAACCTGGAGGAAGGGTCAAGGGGTTCAAATAGGCCTGTGGATATAGCCTCAAAAGCCAACATCCTTGGCTATTCCGCTGCTCACTTACCTCCCCAAGGTGCCGGAGGTGCGTGGCTGGGAGGGGCCCAGCCCAACGCTGTAGTTCCTGCAGCAGGGCCTTGCGCTGAAGCTGCTCTGAGGGCTCCCAGGTCACGGACGGGAACTCCCACAGTCCTGCCAGCAGACCTGAGAGGGAGGGCAGCCAGGCAGGGGTCAGGCCTCAGCTGCCGATTCCCTCCATTCTCTCTTGTTACTCATGCCACTGCCCTCCACGCCCAGTATCCAGGTACCTGAGTTGGGCCTCTGCACCAGCAGAATTTGGGCCCCAAGGGCCCCAGGCTGTTCCAGAACACAGGTGGCAGAGCTCTCCTCCCTGGGGGGCTTGCGGCTGGCCTTTCTGGGGAAGTTGACCACTCCCAGGGTCTGGTCCCAGGGCTCCGAGGGAGGCAGGCACAGGTGGCACTGTCCAGTGTTGGGAGCTGGGAACGGAGATCCCCGAACCCTACTCAAGCCAAGAGGGCTTTAGGGGCCAACCTAGAGAGTGGGCTTTGGCCGGGTTCTGCAGAATCTTACTCAGGTTAGAGGAAGAACTGGAATGGGGCTTCTGACTGGGCCAGGAAGGGTTGGGGTGGGGGCTAGGTTTGGTGCTCACCACACTCCTCCACGTCAGGACTGCCCGACAGGCTCCCTGAGGCTAAGAGCTGTTCCTGCTCCACCTGAGAGGCACAGGGTTGAGTGTCATAGGGCAGAGTCACTCCTTAGGACTTCTCACTGCCCCTTCCCCAGTAGGCTTACTCTCTGGCGTGCCCGGCACAGGCTCTCCACAGGGCACTGGCTGCACAGTGGGCGCTGTGGGGTACACACTGTGGCCCCTAGCTCCATGGCTGCTTGGTTGAAATCTCCTGGCCGGGCTGGGTCCACCAGCTGCTGGGCTAGACCCCTAAAAGAAGGGAACACTGCTGTGAAGCAGAGCTCCTTTGCAGACACCCCTGAAGCACCCTTGTTACCCCAACATCCTACCAGAGCTGCTGGGAAACAAGGGTGCTGCTGGGATCAGCACCAATGGCTCGGACACGGCACAGCACCCGTGCTACGTTGCCATCCACCACACCGGTTGCCTGGCACAGAGGGGCCAAAGAGTTAGCCTGGGCTGGGAGGAAGGAGGCTGGGCACGCACAAAGTGGGGGTGGGCTGTGAGATCACCTGGCCAAAGGCGATAGAGGCAATGGCCCCAGCTGTGTAGCGCCCCACGCCAGGCAGGAGCTGCTGCAGGGTCTCTGCTGTACGTGGCATGTGGCCCCCTAGCTCCTCTACCACCTGATTGGAGTGCAAGACTCAAGATTATAAGACACCCAAGACTCCTGGGTTCCTACCCTCCTGCCATCCCCTTACCTTCCGAGCTCCCTCCTGCAGCCGCCGGCCATGAGAATAGTAGCCCAGGCCAGCCCAGAGTTGATTCACCTCCTGTGGGTAGGATCAGAGGTCAAAGAGATCACCCGTCAGTCCCTCTATTGTTCCTATTTCCCCTACCCTAGGGTGGCTCTCACCTCCAGGGAAGCACTGGCCAGGTCCTGCAGTGTAGGCCACTTCTATAGCCACAGGCAGGCAGAAAGAGACAAGGTCAAGGGTGAAGGTGGTAGAGGAAGCCTTCTCTACACCCACCCCAAAGTAGAGGCTCTCATCTGGGGTCTGACCCATGACCCTTCCCTTCCTCCCCTGGAGTCACCTGCATCCATCCGGTATAGTAGTTGATCACAGTGGCAACCTGGGTCTGCTGCAGCATGACCTCTGAGACCCACACTGGGGGAAAGGGGTTGGCATGAGGACACTGCTGACCTGCCCCTACCTGGCCCACAGCCCCCAGACCCAAGGGCCTCGAGGCAAAGTGGCCCTGCTCTCAGGAGATGTACTGACCAGCATATGCCCGCCTGTCCAGGTCCATCTCATCTTCTGCCTGTCAATGCAACCCCAGATGAGGAGTTAGGGTGGAGGGGGCTGGGTGCCTGCCTCCCACCCACTGTCCCTGCTCCTCGCCTGCCTACCCGTCTTCTCCATGGTAGGTCCCGTTTCTCTTGGTCGTACCAGCTTAGCAGGCTCCCTCGGAAGGCTGTGACTTCAGCTACGTCTCTGAATAGATGGTATGAGGAGACAGAGGCCTGCAATACCACCTCTTCCGGCTGCCTGGCCAGGCCTGCTGGGGCCCCAGGACACTCAGCAATCATCCCTGCACAGGCTGTGCATCAGGGTCTTGGGACACAGCAGCCTGTGGCAGTATGCTCCCACTTAGGGCTTCCCCCAACTAACCCCCTTAAGCTTTGGAGCTGGAGTCAGACCAGAGTTATGTAATTGTGTGTAGCTGTGGCTAAGTTTCTGGCCTTAATTTTCTCAGGGTGGTACTACTGGCTTGTCTCTGAGCCATAATGAAAACCTAATAGTTTTAGCCAGCTAGAATGTATACTGGTGCAGGACCTTCCTATTCACAAAACACTTTCAGGCTCATAAACTCATTTGGTCCCATGAAAGCCACATGAGGGAGGAAATGCTGAACTACTGCTCCATTTTACTGGTAAGAAAGCAGCCATTCAGAGCAATTGTCCCAATGTCACACAGCAATACAGTCAGAATTACACCCTCAGTGAGTCTCTTTTGTTTTGAGACAAGAGTCTGGCTCTGTTGCCCAGACTGAAATGCAGTTGCATTATCTTGACTCAGTGCAACTTCTGCCTTCCAGGCTCAAGCGATCCTGTCACCTCAGCTTCCCGAGTAGCTGGGACTACAGACGCTCACCACCACGCGAGCATAGAGAGGGGATTTCGCCATGTTACCCAAGCTGGTCTCAAACTCCTGGGCTCAAGGGATCCACCTGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACCGCACCTGGCCCTTAGTAAGTCTCTTAATGTCTTGATACGTATCACAATCCCTTCCCAGCCTGAATCTGCCTTTCATGGCCAATGAGCCTTGGGCCACAACCTAGTTCCTTACCATCACAGGCAGAAGGCTTGGCCTGACTGTTGTTCTTAGCATGCTTCTGCCTCCCTTCCTGGCTGGCTGCCTGCTTCCTGTGACCACTTCCCACGGCTGCTCGTGGCTTCCTCATGATGGCCTGAAACAAAAAGACCCAGCCAAAGCAGTCAGTCACAATGAGGCCAAATTTTGAGGCCTTCCAAGGGTGATAGCTATCTCCCTCTCATCCACCATTCACATGGGGTCCAGCTTCTCTCAAGCACTCTCAAGATGCTCACGGGTTTACTCTTGGCTGGCTGCAGCACTGAGATACAACTAGTATAGCTGAGCAAGTGGCCTCAAGGGGGCCGGCGTTACAGCCCTGGAGACATGCAAAGACTGTGAGGCCAGGGCTGGGATGGGTCAAGGATGAAAGCCTCCTGTTTGGGAGCATTTGTGTATCTCTGATGCTTACTGTGACTGTGTGTGT
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Task1_train_863
|
The variant affects gene MUTYH (mutY DNA glycosylase), which is on Chromosome 1. Please evaluate whether this mutation is benign or pathogenic and specify the disease if necessary.
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Pathogenic; Hereditary cancer-predisposing syndrome
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TTGAGACCAGCCTGGCCAACATGGTGAAACCCCATCTCTAAAAATACAAAAAATCATGGCTGGGTGTGGTAGCTCACACCTGTAATCCCAGCATTCTGGGAGGCTGAGGCGGGCGGATCACTTGAGGTCAAGAGTTGGAGACCAGCCTGGCCAGCATGGTGAAACCTCATCTCTACTAAAAATACAAAAATTAGCCAGGCATGGTGGCGGGCGCCTGTAATCCGAGCTACTCAGGAAGCTGAGGCAGGAGAATCACTTGAACCCGGGAGATGGAGGTTGCAGTCAACCGAGATAGCGCCATTGCACTCCAGCCTGGGCAACAGAGCGATTCTCCGTCTCAAAAAAAAATGCTTTTTTTCCTGTTTACACAGTAATATATTCATGTAGAACATGTAGGAAACACAAGGAAGTACAACAAAGACAACAAAGGTAGTGCCTTTTTCATGGCGGTGGAAACAGCTGCGGTGTGAAATTCCTCCTGCGTCAGCCAGCGAGCACCTGGTGGTACGGTGGTCACTGGGGTCTGCCCTTCCAAGGCCAGCCCATATACTTGATATGTCAGCTTGATGTGAGAGAAGGTGTGGACAACCTGGAGGAAGGGTCAAGGGGTTCAAATAGGCCTGTGGATATAGCCTCAAAAGCCAACATCCTTGGCTATTCCGCTGCTCACTTACCTCCCCAAGGTGCCGGAGGTGCGTGGCTGGGAGGGGCCCAGCCCAACGCTGTAGTTCCTGCAGCAGGGCCTTGCGCTGAAGCTGCTCTGAGGGCTCCCAGGTCACGGACGGGAACTCCCACAGTCCTGCCAGCAGACCTGAGAGGGAGGGCAGCCAGGCAGGGGTCAGGCCTCAGCTGCCGATTCCCTCCATTCTCTCTTGTTACTCATGCCACTGCCCTCCACGCCCAGTATCCAGGTACCTGAGTTGGGCCTCTGCACCAGCAGAATTTGGGCCCCAAGGGCCCCAGGCTGTTCCAGAACACAGGTGGCAGAGCTCTCCTCCCTGGGGGGCTTGCGGCTGGCCTTTCTGGGGAAGTTGACCACTCCCAGGGTCTGGTCCCAGGGCTCCGAGGGAGGCAGGCACAGGTGGCACTGTCCAGTGTTGGGAGCTGGGAACGGAGATCCCCGAACCCTACTCAAGCCAAGAGGGCTTTAGGGGCCAACCTAGAGAGTGGGCTTTGGCCGGGTTCTGCAGAATCTTACTCAGGTTAGAGGAAGAACTGGAATGGGGCTTCTGACTGGGCCAGGAAGGGTTGGGGTGGGGGCTAGGTTTGGTGCTCACCACACTCCTCCACGTCAGGACTGCCCGACAGGCTCCCTGAGGCTAAGAGCTGTTCCTGCTCCACCTGAGAGGCACAGGGTTGAGTGTCATAGGGCAGAGTCACTCCTTAGGACTTCTCACTGCCCCTTCCCCAGTAGGCTTACTCTCTGGCGTGCCCGGCACAGGCTCTCCACAGGGCACTGGCTGCACAGTGGGCGCTGTGGGGTACACACTGTGGCCCCTAGCTCCATGGCTGCTTGGTTGAAATCTCCTGGCCGGGCTGGGTCCACCAGCTGCTGGGCTAGACCCCTAAAAGAAGGGAACACTGCTGTGAAGCAGAGCTCCTTTGCAGACACCCCTGAAGCACCCTTGTTACCCCAACATCCTACCAGAGCTGCTGGGAAACAAGGGTGCTGCTGGGATCAGCACCAATGGCTCGGACACGGCACAGCACCCGTGCTACGTTGCCATCCACCACACCGGTTGCCTGGCACAGAGGGGCCAAAGAGTTAGCCTGGGCTGGGAGGAAGGAGGCTGGGCACGCACAAAGTGGGGGTGGGCTGTGAGATCACCTGGCCAAAGGCGATAGAGGCAATGGCCCCAGCTGTGTAGCGCCCCACGCCAGGCAGGAGCTGCTGCAGGGTCTCTGCTGTACGTGGCATGTGGCCCCCTAGCTCCTCTACCACCTGATTGGAGTGCAAGACTCAAGATTATAAGACACCCAAGACTCCTGGGTTCCTACCCTCCTGCCATCCCCTTACCTTCCGAGCTCCCTCCTGCAGCCGCCGGCCACGAGAATAGTAGCCCAGGCCAGCCCAGAGTTGATTCACCTCCTGTGGGTAGGATCAGAGGTCAAAGAGATCACCCGTCAGTCCCTCTATTGTTCCTATTTCCCCTACCCTAGGGTGGCTCTCACCTCCAGGGAAGCACTGGCCAGGTCCTGCAGTGTAGGCCACTTCTATAGCCACAGGCAGGCAGAAAGAGACAAGGTCAAGGGTGAAGGTGGTAGAGGAAGCCTTCTCTACACCCACCCCAAAGTAGAGGCTCTCATCTGGGGTCTGACCCATGACCCTTCCCTTCCTCCCCTGGAGTCACCTGCATCCATCCGGTATAGTAGTTGATCACAGTGGCAACCTGGGTCTGCTGCAGCATGACCTCTGAGACCCACACTGGGGGAAAGGGGTTGGCATGAGGACACTGCTGACCTGCCCCTACCTGGCCCACAGCCCCCAGACCCAAGGGCCTCGAGGCAAAGTGGCCCTGCTCTCAGGAGATGTACTGACCAGCATATGCCCGCCTGTCCAGGTCCATCTCATCTTCTGCCTGTCAATGCAACCCCAGATGAGGAGTTAGGGTGGAGGGGGCTGGGTGCCTGCCTCCCACCCACTGTCCCTGCTCCTCGCCTGCCTACCCGTCTTCTCCATGGTAGGTCCCGTTTCTCTTGGTCGTACCAGCTTAGCAGGCTCCCTCGGAAGGCTGTGACTTCAGCTACGTCTCTGAATAGATGGTATGAGGAGACAGAGGCCTGCAATACCACCTCTTCCGGCTGCCTGGCCAGGCCTGCTGGGGCCCCAGGACACTCAGCAATCATCCCTGCACAGGCTGTGCATCAGGGTCTTGGGACACAGCAGCCTGTGGCAGTATGCTCCCACTTAGGGCTTCCCCCAACTAACCCCCTTAAGCTTTGGAGCTGGAGTCAGACCAGAGTTATGTAATTGTGTGTAGCTGTGGCTAAGTTTCTGGCCTTAATTTTCTCAGGGTGGTACTACTGGCTTGTCTCTGAGCCATAATGAAAACCTAATAGTTTTAGCCAGCTAGAATGTATACTGGTGCAGGACCTTCCTATTCACAAAACACTTTCAGGCTCATAAACTCATTTGGTCCCATGAAAGCCACATGAGGGAGGAAATGCTGAACTACTGCTCCATTTTACTGGTAAGAAAGCAGCCATTCAGAGCAATTGTCCCAATGTCACACAGCAATACAGTCAGAATTACACCCTCAGTGAGTCTCTTTTGTTTTGAGACAAGAGTCTGGCTCTGTTGCCCAGACTGAAATGCAGTTGCATTATCTTGACTCAGTGCAACTTCTGCCTTCCAGGCTCAAGCGATCCTGTCACCTCAGCTTCCCGAGTAGCTGGGACTACAGACGCTCACCACCACGCGAGCATAGAGAGGGGATTTCGCCATGTTACCCAAGCTGGTCTCAAACTCCTGGGCTCAAGGGATCCACCTGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACCGCACCTGGCCCTTAGTAAGTCTCTTAATGTCTTGATACGTATCACAATCCCTTCCCAGCCTGAATCTGCCTTTCATGGCCAATGAGCCTTGGGCCACAACCTAGTTCCTTACCATCACAGGCAGAAGGCTTGGCCTGACTGTTGTTCTTAGCATGCTTCTGCCTCCCTTCCTGGCTGGCTGCCTGCTTCCTGTGACCACTTCCCACGGCTGCTCGTGGCTTCCTCATGATGGCCTGAAACAAAAAGACCCAGCCAAAGCAGTCAGTCACAATGAGGCCAAATTTTGAGGCCTTCCAAGGGTGATAGCTATCTCCCTCTCATCCACCATTCACATGGGGTCCAGCTTCTCTCAAGCACTCTCAAGATGCTCACGGGTTTACTCTTGGCTGGCTGCAGCACTGAGATACAACTAGTATAGCTGAGCAAGTGGCCTCAAGGGGGCCGGCGTTACAGCCCTGGAGACATGCAAAGACTGTGAGGCCAGGGCTGGGATGGGTCAAGGATGAAAGCCTCCTGTTTGGGAGCATTTGTGTATCTCTGATGCTTACTGTGACTGTGTGTGT
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TTGAGACCAGCCTGGCCAACATGGTGAAACCCCATCTCTAAAAATACAAAAAATCATGGCTGGGTGTGGTAGCTCACACCTGTAATCCCAGCATTCTGGGAGGCTGAGGCGGGCGGATCACTTGAGGTCAAGAGTTGGAGACCAGCCTGGCCAGCATGGTGAAACCTCATCTCTACTAAAAATACAAAAATTAGCCAGGCATGGTGGCGGGCGCCTGTAATCCGAGCTACTCAGGAAGCTGAGGCAGGAGAATCACTTGAACCCGGGAGATGGAGGTTGCAGTCAACCGAGATAGCGCCATTGCACTCCAGCCTGGGCAACAGAGCGATTCTCCGTCTCAAAAAAAAATGCTTTTTTTCCTGTTTACACAGTAATATATTCATGTAGAACATGTAGGAAACACAAGGAAGTACAACAAAGACAACAAAGGTAGTGCCTTTTTCATGGCGGTGGAAACAGCTGCGGTGTGAAATTCCTCCTGCGTCAGCCAGCGAGCACCTGGTGGTACGGTGGTCACTGGGGTCTGCCCTTCCAAGGCCAGCCCATATACTTGATATGTCAGCTTGATGTGAGAGAAGGTGTGGACAACCTGGAGGAAGGGTCAAGGGGTTCAAATAGGCCTGTGGATATAGCCTCAAAAGCCAACATCCTTGGCTATTCCGCTGCTCACTTACCTCCCCAAGGTGCCGGAGGTGCGTGGCTGGGAGGGGCCCAGCCCAACGCTGTAGTTCCTGCAGCAGGGCCTTGCGCTGAAGCTGCTCTGAGGGCTCCCAGGTCACGGACGGGAACTCCCACAGTCCTGCCAGCAGACCTGAGAGGGAGGGCAGCCAGGCAGGGGTCAGGCCTCAGCTGCCGATTCCCTCCATTCTCTCTTGTTACTCATGCCACTGCCCTCCACGCCCAGTATCCAGGTACCTGAGTTGGGCCTCTGCACCAGCAGAATTTGGGCCCCAAGGGCCCCAGGCTGTTCCAGAACACAGGTGGCAGAGCTCTCCTCCCTGGGGGGCTTGCGGCTGGCCTTTCTGGGGAAGTTGACCACTCCCAGGGTCTGGTCCCAGGGCTCCGAGGGAGGCAGGCACAGGTGGCACTGTCCAGTGTTGGGAGCTGGGAACGGAGATCCCCGAACCCTACTCAAGCCAAGAGGGCTTTAGGGGCCAACCTAGAGAGTGGGCTTTGGCCGGGTTCTGCAGAATCTTACTCAGGTTAGAGGAAGAACTGGAATGGGGCTTCTGACTGGGCCAGGAAGGGTTGGGGTGGGGGCTAGGTTTGGTGCTCACCACACTCCTCCACGTCAGGACTGCCCGACAGGCTCCCTGAGGCTAAGAGCTGTTCCTGCTCCACCTGAGAGGCACAGGGTTGAGTGTCATAGGGCAGAGTCACTCCTTAGGACTTCTCACTGCCCCTTCCCCAGTAGGCTTACTCTCTGGCGTGCCCGGCACAGGCTCTCCACAGGGCACTGGCTGCACAGTGGGCGCTGTGGGGTACACACTGTGGCCCCTAGCTCCATGGCTGCTTGGTTGAAATCTCCTGGCCGGGCTGGGTCCACCAGCTGCTGGGCTAGACCCCTAAAAGAAGGGAACACTGCTGTGAAGCAGAGCTCCTTTGCAGACACCCCTGAAGCACCCTTGTTACCCCAACATCCTACCAGAGCTGCTGGGAAACAAGGGTGCTGCTGGGATCAGCACCAATGGCTCGGACACGGCACAGCACCCGTGCTACGTTGCCATCCACCACACCGGTTGCCTGGCACAGAGGGGCCAAAGAGTTAGCCTGGGCTGGGAGGAAGGAGGCTGGGCACGCACAAAGTGGGGGTGGGCTGTGAGATCACCTGGCCAAAGGCGATAGAGGCAATGGCCCCAGCTGTGTAGCGCCCCACGCCAGGCAGGAGCTGCTGCAGGGTCTCTGCTGTACGTGGCATGTGGCCCCCTAGCTCCTCTACCACCTGATTGGAGTGCAAGACTCAAGATTATAAGACACCCAAGACTCCTGGGTTCCTACCCTCCTGCCATCCCCTTACCTTCCGAGCTCCCTCCTGCAGCCGCCGGCCATGAGAATAGTAGCCCAGGCCAGCCCAGAGTTGATTCACCTCCTGTGGGTAGGATCAGAGGTCAAAGAGATCACCCGTCAGTCCCTCTATTGTTCCTATTTCCCCTACCCTAGGGTGGCTCTCACCTCCAGGGAAGCACTGGCCAGGTCCTGCAGTGTAGGCCACTTCTATAGCCACAGGCAGGCAGAAAGAGACAAGGTCAAGGGTGAAGGTGGTAGAGGAAGCCTTCTCTACACCCACCCCAAAGTAGAGGCTCTCATCTGGGGTCTGACCCATGACCCTTCCCTTCCTCCCCTGGAGTCACCTGCATCCATCCGGTATAGTAGTTGATCACAGTGGCAACCTGGGTCTGCTGCAGCATGACCTCTGAGACCCACACTGGGGGAAAGGGGTTGGCATGAGGACACTGCTGACCTGCCCCTACCTGGCCCACAGCCCCCAGACCCAAGGGCCTCGAGGCAAAGTGGCCCTGCTCTCAGGAGATGTACTGACCAGCATATGCCCGCCTGTCCAGGTCCATCTCATCTTCTGCCTGTCAATGCAACCCCAGATGAGGAGTTAGGGTGGAGGGGGCTGGGTGCCTGCCTCCCACCCACTGTCCCTGCTCCTCGCCTGCCTACCCGTCTTCTCCATGGTAGGTCCCGTTTCTCTTGGTCGTACCAGCTTAGCAGGCTCCCTCGGAAGGCTGTGACTTCAGCTACGTCTCTGAATAGATGGTATGAGGAGACAGAGGCCTGCAATACCACCTCTTCCGGCTGCCTGGCCAGGCCTGCTGGGGCCCCAGGACACTCAGCAATCATCCCTGCACAGGCTGTGCATCAGGGTCTTGGGACACAGCAGCCTGTGGCAGTATGCTCCCACTTAGGGCTTCCCCCAACTAACCCCCTTAAGCTTTGGAGCTGGAGTCAGACCAGAGTTATGTAATTGTGTGTAGCTGTGGCTAAGTTTCTGGCCTTAATTTTCTCAGGGTGGTACTACTGGCTTGTCTCTGAGCCATAATGAAAACCTAATAGTTTTAGCCAGCTAGAATGTATACTGGTGCAGGACCTTCCTATTCACAAAACACTTTCAGGCTCATAAACTCATTTGGTCCCATGAAAGCCACATGAGGGAGGAAATGCTGAACTACTGCTCCATTTTACTGGTAAGAAAGCAGCCATTCAGAGCAATTGTCCCAATGTCACACAGCAATACAGTCAGAATTACACCCTCAGTGAGTCTCTTTTGTTTTGAGACAAGAGTCTGGCTCTGTTGCCCAGACTGAAATGCAGTTGCATTATCTTGACTCAGTGCAACTTCTGCCTTCCAGGCTCAAGCGATCCTGTCACCTCAGCTTCCCGAGTAGCTGGGACTACAGACGCTCACCACCACGCGAGCATAGAGAGGGGATTTCGCCATGTTACCCAAGCTGGTCTCAAACTCCTGGGCTCAAGGGATCCACCTGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACCGCACCTGGCCCTTAGTAAGTCTCTTAATGTCTTGATACGTATCACAATCCCTTCCCAGCCTGAATCTGCCTTTCATGGCCAATGAGCCTTGGGCCACAACCTAGTTCCTTACCATCACAGGCAGAAGGCTTGGCCTGACTGTTGTTCTTAGCATGCTTCTGCCTCCCTTCCTGGCTGGCTGCCTGCTTCCTGTGACCACTTCCCACGGCTGCTCGTGGCTTCCTCATGATGGCCTGAAACAAAAAGACCCAGCCAAAGCAGTCAGTCACAATGAGGCCAAATTTTGAGGCCTTCCAAGGGTGATAGCTATCTCCCTCTCATCCACCATTCACATGGGGTCCAGCTTCTCTCAAGCACTCTCAAGATGCTCACGGGTTTACTCTTGGCTGGCTGCAGCACTGAGATACAACTAGTATAGCTGAGCAAGTGGCCTCAAGGGGGCCGGCGTTACAGCCCTGGAGACATGCAAAGACTGTGAGGCCAGGGCTGGGATGGGTCAAGGATGAAAGCCTCCTGTTTGGGAGCATTTGTGTATCTCTGATGCTTACTGTGACTGTGTGTGT
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Task1_train_864
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Gene MUTYH (mutY DNA glycosylase) on Chromosome 1 is altered by this variant. Does this mutation result in a disease or is it benign?
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Pathogenic; Gastric cancer
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TTGAGACCAGCCTGGCCAACATGGTGAAACCCCATCTCTAAAAATACAAAAAATCATGGCTGGGTGTGGTAGCTCACACCTGTAATCCCAGCATTCTGGGAGGCTGAGGCGGGCGGATCACTTGAGGTCAAGAGTTGGAGACCAGCCTGGCCAGCATGGTGAAACCTCATCTCTACTAAAAATACAAAAATTAGCCAGGCATGGTGGCGGGCGCCTGTAATCCGAGCTACTCAGGAAGCTGAGGCAGGAGAATCACTTGAACCCGGGAGATGGAGGTTGCAGTCAACCGAGATAGCGCCATTGCACTCCAGCCTGGGCAACAGAGCGATTCTCCGTCTCAAAAAAAAATGCTTTTTTTCCTGTTTACACAGTAATATATTCATGTAGAACATGTAGGAAACACAAGGAAGTACAACAAAGACAACAAAGGTAGTGCCTTTTTCATGGCGGTGGAAACAGCTGCGGTGTGAAATTCCTCCTGCGTCAGCCAGCGAGCACCTGGTGGTACGGTGGTCACTGGGGTCTGCCCTTCCAAGGCCAGCCCATATACTTGATATGTCAGCTTGATGTGAGAGAAGGTGTGGACAACCTGGAGGAAGGGTCAAGGGGTTCAAATAGGCCTGTGGATATAGCCTCAAAAGCCAACATCCTTGGCTATTCCGCTGCTCACTTACCTCCCCAAGGTGCCGGAGGTGCGTGGCTGGGAGGGGCCCAGCCCAACGCTGTAGTTCCTGCAGCAGGGCCTTGCGCTGAAGCTGCTCTGAGGGCTCCCAGGTCACGGACGGGAACTCCCACAGTCCTGCCAGCAGACCTGAGAGGGAGGGCAGCCAGGCAGGGGTCAGGCCTCAGCTGCCGATTCCCTCCATTCTCTCTTGTTACTCATGCCACTGCCCTCCACGCCCAGTATCCAGGTACCTGAGTTGGGCCTCTGCACCAGCAGAATTTGGGCCCCAAGGGCCCCAGGCTGTTCCAGAACACAGGTGGCAGAGCTCTCCTCCCTGGGGGGCTTGCGGCTGGCCTTTCTGGGGAAGTTGACCACTCCCAGGGTCTGGTCCCAGGGCTCCGAGGGAGGCAGGCACAGGTGGCACTGTCCAGTGTTGGGAGCTGGGAACGGAGATCCCCGAACCCTACTCAAGCCAAGAGGGCTTTAGGGGCCAACCTAGAGAGTGGGCTTTGGCCGGGTTCTGCAGAATCTTACTCAGGTTAGAGGAAGAACTGGAATGGGGCTTCTGACTGGGCCAGGAAGGGTTGGGGTGGGGGCTAGGTTTGGTGCTCACCACACTCCTCCACGTCAGGACTGCCCGACAGGCTCCCTGAGGCTAAGAGCTGTTCCTGCTCCACCTGAGAGGCACAGGGTTGAGTGTCATAGGGCAGAGTCACTCCTTAGGACTTCTCACTGCCCCTTCCCCAGTAGGCTTACTCTCTGGCGTGCCCGGCACAGGCTCTCCACAGGGCACTGGCTGCACAGTGGGCGCTGTGGGGTACACACTGTGGCCCCTAGCTCCATGGCTGCTTGGTTGAAATCTCCTGGCCGGGCTGGGTCCACCAGCTGCTGGGCTAGACCCCTAAAAGAAGGGAACACTGCTGTGAAGCAGAGCTCCTTTGCAGACACCCCTGAAGCACCCTTGTTACCCCAACATCCTACCAGAGCTGCTGGGAAACAAGGGTGCTGCTGGGATCAGCACCAATGGCTCGGACACGGCACAGCACCCGTGCTACGTTGCCATCCACCACACCGGTTGCCTGGCACAGAGGGGCCAAAGAGTTAGCCTGGGCTGGGAGGAAGGAGGCTGGGCACGCACAAAGTGGGGGTGGGCTGTGAGATCACCTGGCCAAAGGCGATAGAGGCAATGGCCCCAGCTGTGTAGCGCCCCACGCCAGGCAGGAGCTGCTGCAGGGTCTCTGCTGTACGTGGCATGTGGCCCCCTAGCTCCTCTACCACCTGATTGGAGTGCAAGACTCAAGATTATAAGACACCCAAGACTCCTGGGTTCCTACCCTCCTGCCATCCCCTTACCTTCCGAGCTCCCTCCTGCAGCCGCCGGCCACGAGAATAGTAGCCCAGGCCAGCCCAGAGTTGATTCACCTCCTGTGGGTAGGATCAGAGGTCAAAGAGATCACCCGTCAGTCCCTCTATTGTTCCTATTTCCCCTACCCTAGGGTGGCTCTCACCTCCAGGGAAGCACTGGCCAGGTCCTGCAGTGTAGGCCACTTCTATAGCCACAGGCAGGCAGAAAGAGACAAGGTCAAGGGTGAAGGTGGTAGAGGAAGCCTTCTCTACACCCACCCCAAAGTAGAGGCTCTCATCTGGGGTCTGACCCATGACCCTTCCCTTCCTCCCCTGGAGTCACCTGCATCCATCCGGTATAGTAGTTGATCACAGTGGCAACCTGGGTCTGCTGCAGCATGACCTCTGAGACCCACACTGGGGGAAAGGGGTTGGCATGAGGACACTGCTGACCTGCCCCTACCTGGCCCACAGCCCCCAGACCCAAGGGCCTCGAGGCAAAGTGGCCCTGCTCTCAGGAGATGTACTGACCAGCATATGCCCGCCTGTCCAGGTCCATCTCATCTTCTGCCTGTCAATGCAACCCCAGATGAGGAGTTAGGGTGGAGGGGGCTGGGTGCCTGCCTCCCACCCACTGTCCCTGCTCCTCGCCTGCCTACCCGTCTTCTCCATGGTAGGTCCCGTTTCTCTTGGTCGTACCAGCTTAGCAGGCTCCCTCGGAAGGCTGTGACTTCAGCTACGTCTCTGAATAGATGGTATGAGGAGACAGAGGCCTGCAATACCACCTCTTCCGGCTGCCTGGCCAGGCCTGCTGGGGCCCCAGGACACTCAGCAATCATCCCTGCACAGGCTGTGCATCAGGGTCTTGGGACACAGCAGCCTGTGGCAGTATGCTCCCACTTAGGGCTTCCCCCAACTAACCCCCTTAAGCTTTGGAGCTGGAGTCAGACCAGAGTTATGTAATTGTGTGTAGCTGTGGCTAAGTTTCTGGCCTTAATTTTCTCAGGGTGGTACTACTGGCTTGTCTCTGAGCCATAATGAAAACCTAATAGTTTTAGCCAGCTAGAATGTATACTGGTGCAGGACCTTCCTATTCACAAAACACTTTCAGGCTCATAAACTCATTTGGTCCCATGAAAGCCACATGAGGGAGGAAATGCTGAACTACTGCTCCATTTTACTGGTAAGAAAGCAGCCATTCAGAGCAATTGTCCCAATGTCACACAGCAATACAGTCAGAATTACACCCTCAGTGAGTCTCTTTTGTTTTGAGACAAGAGTCTGGCTCTGTTGCCCAGACTGAAATGCAGTTGCATTATCTTGACTCAGTGCAACTTCTGCCTTCCAGGCTCAAGCGATCCTGTCACCTCAGCTTCCCGAGTAGCTGGGACTACAGACGCTCACCACCACGCGAGCATAGAGAGGGGATTTCGCCATGTTACCCAAGCTGGTCTCAAACTCCTGGGCTCAAGGGATCCACCTGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACCGCACCTGGCCCTTAGTAAGTCTCTTAATGTCTTGATACGTATCACAATCCCTTCCCAGCCTGAATCTGCCTTTCATGGCCAATGAGCCTTGGGCCACAACCTAGTTCCTTACCATCACAGGCAGAAGGCTTGGCCTGACTGTTGTTCTTAGCATGCTTCTGCCTCCCTTCCTGGCTGGCTGCCTGCTTCCTGTGACCACTTCCCACGGCTGCTCGTGGCTTCCTCATGATGGCCTGAAACAAAAAGACCCAGCCAAAGCAGTCAGTCACAATGAGGCCAAATTTTGAGGCCTTCCAAGGGTGATAGCTATCTCCCTCTCATCCACCATTCACATGGGGTCCAGCTTCTCTCAAGCACTCTCAAGATGCTCACGGGTTTACTCTTGGCTGGCTGCAGCACTGAGATACAACTAGTATAGCTGAGCAAGTGGCCTCAAGGGGGCCGGCGTTACAGCCCTGGAGACATGCAAAGACTGTGAGGCCAGGGCTGGGATGGGTCAAGGATGAAAGCCTCCTGTTTGGGAGCATTTGTGTATCTCTGATGCTTACTGTGACTGTGTGTGT
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TTGAGACCAGCCTGGCCAACATGGTGAAACCCCATCTCTAAAAATACAAAAAATCATGGCTGGGTGTGGTAGCTCACACCTGTAATCCCAGCATTCTGGGAGGCTGAGGCGGGCGGATCACTTGAGGTCAAGAGTTGGAGACCAGCCTGGCCAGCATGGTGAAACCTCATCTCTACTAAAAATACAAAAATTAGCCAGGCATGGTGGCGGGCGCCTGTAATCCGAGCTACTCAGGAAGCTGAGGCAGGAGAATCACTTGAACCCGGGAGATGGAGGTTGCAGTCAACCGAGATAGCGCCATTGCACTCCAGCCTGGGCAACAGAGCGATTCTCCGTCTCAAAAAAAAATGCTTTTTTTCCTGTTTACACAGTAATATATTCATGTAGAACATGTAGGAAACACAAGGAAGTACAACAAAGACAACAAAGGTAGTGCCTTTTTCATGGCGGTGGAAACAGCTGCGGTGTGAAATTCCTCCTGCGTCAGCCAGCGAGCACCTGGTGGTACGGTGGTCACTGGGGTCTGCCCTTCCAAGGCCAGCCCATATACTTGATATGTCAGCTTGATGTGAGAGAAGGTGTGGACAACCTGGAGGAAGGGTCAAGGGGTTCAAATAGGCCTGTGGATATAGCCTCAAAAGCCAACATCCTTGGCTATTCCGCTGCTCACTTACCTCCCCAAGGTGCCGGAGGTGCGTGGCTGGGAGGGGCCCAGCCCAACGCTGTAGTTCCTGCAGCAGGGCCTTGCGCTGAAGCTGCTCTGAGGGCTCCCAGGTCACGGACGGGAACTCCCACAGTCCTGCCAGCAGACCTGAGAGGGAGGGCAGCCAGGCAGGGGTCAGGCCTCAGCTGCCGATTCCCTCCATTCTCTCTTGTTACTCATGCCACTGCCCTCCACGCCCAGTATCCAGGTACCTGAGTTGGGCCTCTGCACCAGCAGAATTTGGGCCCCAAGGGCCCCAGGCTGTTCCAGAACACAGGTGGCAGAGCTCTCCTCCCTGGGGGGCTTGCGGCTGGCCTTTCTGGGGAAGTTGACCACTCCCAGGGTCTGGTCCCAGGGCTCCGAGGGAGGCAGGCACAGGTGGCACTGTCCAGTGTTGGGAGCTGGGAACGGAGATCCCCGAACCCTACTCAAGCCAAGAGGGCTTTAGGGGCCAACCTAGAGAGTGGGCTTTGGCCGGGTTCTGCAGAATCTTACTCAGGTTAGAGGAAGAACTGGAATGGGGCTTCTGACTGGGCCAGGAAGGGTTGGGGTGGGGGCTAGGTTTGGTGCTCACCACACTCCTCCACGTCAGGACTGCCCGACAGGCTCCCTGAGGCTAAGAGCTGTTCCTGCTCCACCTGAGAGGCACAGGGTTGAGTGTCATAGGGCAGAGTCACTCCTTAGGACTTCTCACTGCCCCTTCCCCAGTAGGCTTACTCTCTGGCGTGCCCGGCACAGGCTCTCCACAGGGCACTGGCTGCACAGTGGGCGCTGTGGGGTACACACTGTGGCCCCTAGCTCCATGGCTGCTTGGTTGAAATCTCCTGGCCGGGCTGGGTCCACCAGCTGCTGGGCTAGACCCCTAAAAGAAGGGAACACTGCTGTGAAGCAGAGCTCCTTTGCAGACACCCCTGAAGCACCCTTGTTACCCCAACATCCTACCAGAGCTGCTGGGAAACAAGGGTGCTGCTGGGATCAGCACCAATGGCTCGGACACGGCACAGCACCCGTGCTACGTTGCCATCCACCACACCGGTTGCCTGGCACAGAGGGGCCAAAGAGTTAGCCTGGGCTGGGAGGAAGGAGGCTGGGCACGCACAAAGTGGGGGTGGGCTGTGAGATCACCTGGCCAAAGGCGATAGAGGCAATGGCCCCAGCTGTGTAGCGCCCCACGCCAGGCAGGAGCTGCTGCAGGGTCTCTGCTGTACGTGGCATGTGGCCCCCTAGCTCCTCTACCACCTGATTGGAGTGCAAGACTCAAGATTATAAGACACCCAAGACTCCTGGGTTCCTACCCTCCTGCCATCCCCTTACCTTCCGAGCTCCCTCCTGCAGCCGCCGGCCATGAGAATAGTAGCCCAGGCCAGCCCAGAGTTGATTCACCTCCTGTGGGTAGGATCAGAGGTCAAAGAGATCACCCGTCAGTCCCTCTATTGTTCCTATTTCCCCTACCCTAGGGTGGCTCTCACCTCCAGGGAAGCACTGGCCAGGTCCTGCAGTGTAGGCCACTTCTATAGCCACAGGCAGGCAGAAAGAGACAAGGTCAAGGGTGAAGGTGGTAGAGGAAGCCTTCTCTACACCCACCCCAAAGTAGAGGCTCTCATCTGGGGTCTGACCCATGACCCTTCCCTTCCTCCCCTGGAGTCACCTGCATCCATCCGGTATAGTAGTTGATCACAGTGGCAACCTGGGTCTGCTGCAGCATGACCTCTGAGACCCACACTGGGGGAAAGGGGTTGGCATGAGGACACTGCTGACCTGCCCCTACCTGGCCCACAGCCCCCAGACCCAAGGGCCTCGAGGCAAAGTGGCCCTGCTCTCAGGAGATGTACTGACCAGCATATGCCCGCCTGTCCAGGTCCATCTCATCTTCTGCCTGTCAATGCAACCCCAGATGAGGAGTTAGGGTGGAGGGGGCTGGGTGCCTGCCTCCCACCCACTGTCCCTGCTCCTCGCCTGCCTACCCGTCTTCTCCATGGTAGGTCCCGTTTCTCTTGGTCGTACCAGCTTAGCAGGCTCCCTCGGAAGGCTGTGACTTCAGCTACGTCTCTGAATAGATGGTATGAGGAGACAGAGGCCTGCAATACCACCTCTTCCGGCTGCCTGGCCAGGCCTGCTGGGGCCCCAGGACACTCAGCAATCATCCCTGCACAGGCTGTGCATCAGGGTCTTGGGACACAGCAGCCTGTGGCAGTATGCTCCCACTTAGGGCTTCCCCCAACTAACCCCCTTAAGCTTTGGAGCTGGAGTCAGACCAGAGTTATGTAATTGTGTGTAGCTGTGGCTAAGTTTCTGGCCTTAATTTTCTCAGGGTGGTACTACTGGCTTGTCTCTGAGCCATAATGAAAACCTAATAGTTTTAGCCAGCTAGAATGTATACTGGTGCAGGACCTTCCTATTCACAAAACACTTTCAGGCTCATAAACTCATTTGGTCCCATGAAAGCCACATGAGGGAGGAAATGCTGAACTACTGCTCCATTTTACTGGTAAGAAAGCAGCCATTCAGAGCAATTGTCCCAATGTCACACAGCAATACAGTCAGAATTACACCCTCAGTGAGTCTCTTTTGTTTTGAGACAAGAGTCTGGCTCTGTTGCCCAGACTGAAATGCAGTTGCATTATCTTGACTCAGTGCAACTTCTGCCTTCCAGGCTCAAGCGATCCTGTCACCTCAGCTTCCCGAGTAGCTGGGACTACAGACGCTCACCACCACGCGAGCATAGAGAGGGGATTTCGCCATGTTACCCAAGCTGGTCTCAAACTCCTGGGCTCAAGGGATCCACCTGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACCGCACCTGGCCCTTAGTAAGTCTCTTAATGTCTTGATACGTATCACAATCCCTTCCCAGCCTGAATCTGCCTTTCATGGCCAATGAGCCTTGGGCCACAACCTAGTTCCTTACCATCACAGGCAGAAGGCTTGGCCTGACTGTTGTTCTTAGCATGCTTCTGCCTCCCTTCCTGGCTGGCTGCCTGCTTCCTGTGACCACTTCCCACGGCTGCTCGTGGCTTCCTCATGATGGCCTGAAACAAAAAGACCCAGCCAAAGCAGTCAGTCACAATGAGGCCAAATTTTGAGGCCTTCCAAGGGTGATAGCTATCTCCCTCTCATCCACCATTCACATGGGGTCCAGCTTCTCTCAAGCACTCTCAAGATGCTCACGGGTTTACTCTTGGCTGGCTGCAGCACTGAGATACAACTAGTATAGCTGAGCAAGTGGCCTCAAGGGGGCCGGCGTTACAGCCCTGGAGACATGCAAAGACTGTGAGGCCAGGGCTGGGATGGGTCAAGGATGAAAGCCTCCTGTTTGGGAGCATTTGTGTATCTCTGATGCTTACTGTGACTGTGTGTGT
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Task1_train_865
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This variant affects the gene MUTYH (mutY DNA glycosylase) found on Chromosome 1. What is the clinical effect of this variant — benign or pathogenic? State the disease if applicable.
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Pathogenic; Familial adenomatous polyposis 2
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TTGAGACCAGCCTGGCCAACATGGTGAAACCCCATCTCTAAAAATACAAAAAATCATGGCTGGGTGTGGTAGCTCACACCTGTAATCCCAGCATTCTGGGAGGCTGAGGCGGGCGGATCACTTGAGGTCAAGAGTTGGAGACCAGCCTGGCCAGCATGGTGAAACCTCATCTCTACTAAAAATACAAAAATTAGCCAGGCATGGTGGCGGGCGCCTGTAATCCGAGCTACTCAGGAAGCTGAGGCAGGAGAATCACTTGAACCCGGGAGATGGAGGTTGCAGTCAACCGAGATAGCGCCATTGCACTCCAGCCTGGGCAACAGAGCGATTCTCCGTCTCAAAAAAAAATGCTTTTTTTCCTGTTTACACAGTAATATATTCATGTAGAACATGTAGGAAACACAAGGAAGTACAACAAAGACAACAAAGGTAGTGCCTTTTTCATGGCGGTGGAAACAGCTGCGGTGTGAAATTCCTCCTGCGTCAGCCAGCGAGCACCTGGTGGTACGGTGGTCACTGGGGTCTGCCCTTCCAAGGCCAGCCCATATACTTGATATGTCAGCTTGATGTGAGAGAAGGTGTGGACAACCTGGAGGAAGGGTCAAGGGGTTCAAATAGGCCTGTGGATATAGCCTCAAAAGCCAACATCCTTGGCTATTCCGCTGCTCACTTACCTCCCCAAGGTGCCGGAGGTGCGTGGCTGGGAGGGGCCCAGCCCAACGCTGTAGTTCCTGCAGCAGGGCCTTGCGCTGAAGCTGCTCTGAGGGCTCCCAGGTCACGGACGGGAACTCCCACAGTCCTGCCAGCAGACCTGAGAGGGAGGGCAGCCAGGCAGGGGTCAGGCCTCAGCTGCCGATTCCCTCCATTCTCTCTTGTTACTCATGCCACTGCCCTCCACGCCCAGTATCCAGGTACCTGAGTTGGGCCTCTGCACCAGCAGAATTTGGGCCCCAAGGGCCCCAGGCTGTTCCAGAACACAGGTGGCAGAGCTCTCCTCCCTGGGGGGCTTGCGGCTGGCCTTTCTGGGGAAGTTGACCACTCCCAGGGTCTGGTCCCAGGGCTCCGAGGGAGGCAGGCACAGGTGGCACTGTCCAGTGTTGGGAGCTGGGAACGGAGATCCCCGAACCCTACTCAAGCCAAGAGGGCTTTAGGGGCCAACCTAGAGAGTGGGCTTTGGCCGGGTTCTGCAGAATCTTACTCAGGTTAGAGGAAGAACTGGAATGGGGCTTCTGACTGGGCCAGGAAGGGTTGGGGTGGGGGCTAGGTTTGGTGCTCACCACACTCCTCCACGTCAGGACTGCCCGACAGGCTCCCTGAGGCTAAGAGCTGTTCCTGCTCCACCTGAGAGGCACAGGGTTGAGTGTCATAGGGCAGAGTCACTCCTTAGGACTTCTCACTGCCCCTTCCCCAGTAGGCTTACTCTCTGGCGTGCCCGGCACAGGCTCTCCACAGGGCACTGGCTGCACAGTGGGCGCTGTGGGGTACACACTGTGGCCCCTAGCTCCATGGCTGCTTGGTTGAAATCTCCTGGCCGGGCTGGGTCCACCAGCTGCTGGGCTAGACCCCTAAAAGAAGGGAACACTGCTGTGAAGCAGAGCTCCTTTGCAGACACCCCTGAAGCACCCTTGTTACCCCAACATCCTACCAGAGCTGCTGGGAAACAAGGGTGCTGCTGGGATCAGCACCAATGGCTCGGACACGGCACAGCACCCGTGCTACGTTGCCATCCACCACACCGGTTGCCTGGCACAGAGGGGCCAAAGAGTTAGCCTGGGCTGGGAGGAAGGAGGCTGGGCACGCACAAAGTGGGGGTGGGCTGTGAGATCACCTGGCCAAAGGCGATAGAGGCAATGGCCCCAGCTGTGTAGCGCCCCACGCCAGGCAGGAGCTGCTGCAGGGTCTCTGCTGTACGTGGCATGTGGCCCCCTAGCTCCTCTACCACCTGATTGGAGTGCAAGACTCAAGATTATAAGACACCCAAGACTCCTGGGTTCCTACCCTCCTGCCATCCCCTTACCTTCCGAGCTCCCTCCTGCAGCCGCCGGCCACGAGAATAGTAGCCCAGGCCAGCCCAGAGTTGATTCACCTCCTGTGGGTAGGATCAGAGGTCAAAGAGATCACCCGTCAGTCCCTCTATTGTTCCTATTTCCCCTACCCTAGGGTGGCTCTCACCTCCAGGGAAGCACTGGCCAGGTCCTGCAGTGTAGGCCACTTCTATAGCCACAGGCAGGCAGAAAGAGACAAGGTCAAGGGTGAAGGTGGTAGAGGAAGCCTTCTCTACACCCACCCCAAAGTAGAGGCTCTCATCTGGGGTCTGACCCATGACCCTTCCCTTCCTCCCCTGGAGTCACCTGCATCCATCCGGTATAGTAGTTGATCACAGTGGCAACCTGGGTCTGCTGCAGCATGACCTCTGAGACCCACACTGGGGGAAAGGGGTTGGCATGAGGACACTGCTGACCTGCCCCTACCTGGCCCACAGCCCCCAGACCCAAGGGCCTCGAGGCAAAGTGGCCCTGCTCTCAGGAGATGTACTGACCAGCATATGCCCGCCTGTCCAGGTCCATCTCATCTTCTGCCTGTCAATGCAACCCCAGATGAGGAGTTAGGGTGGAGGGGGCTGGGTGCCTGCCTCCCACCCACTGTCCCTGCTCCTCGCCTGCCTACCCGTCTTCTCCATGGTAGGTCCCGTTTCTCTTGGTCGTACCAGCTTAGCAGGCTCCCTCGGAAGGCTGTGACTTCAGCTACGTCTCTGAATAGATGGTATGAGGAGACAGAGGCCTGCAATACCACCTCTTCCGGCTGCCTGGCCAGGCCTGCTGGGGCCCCAGGACACTCAGCAATCATCCCTGCACAGGCTGTGCATCAGGGTCTTGGGACACAGCAGCCTGTGGCAGTATGCTCCCACTTAGGGCTTCCCCCAACTAACCCCCTTAAGCTTTGGAGCTGGAGTCAGACCAGAGTTATGTAATTGTGTGTAGCTGTGGCTAAGTTTCTGGCCTTAATTTTCTCAGGGTGGTACTACTGGCTTGTCTCTGAGCCATAATGAAAACCTAATAGTTTTAGCCAGCTAGAATGTATACTGGTGCAGGACCTTCCTATTCACAAAACACTTTCAGGCTCATAAACTCATTTGGTCCCATGAAAGCCACATGAGGGAGGAAATGCTGAACTACTGCTCCATTTTACTGGTAAGAAAGCAGCCATTCAGAGCAATTGTCCCAATGTCACACAGCAATACAGTCAGAATTACACCCTCAGTGAGTCTCTTTTGTTTTGAGACAAGAGTCTGGCTCTGTTGCCCAGACTGAAATGCAGTTGCATTATCTTGACTCAGTGCAACTTCTGCCTTCCAGGCTCAAGCGATCCTGTCACCTCAGCTTCCCGAGTAGCTGGGACTACAGACGCTCACCACCACGCGAGCATAGAGAGGGGATTTCGCCATGTTACCCAAGCTGGTCTCAAACTCCTGGGCTCAAGGGATCCACCTGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACCGCACCTGGCCCTTAGTAAGTCTCTTAATGTCTTGATACGTATCACAATCCCTTCCCAGCCTGAATCTGCCTTTCATGGCCAATGAGCCTTGGGCCACAACCTAGTTCCTTACCATCACAGGCAGAAGGCTTGGCCTGACTGTTGTTCTTAGCATGCTTCTGCCTCCCTTCCTGGCTGGCTGCCTGCTTCCTGTGACCACTTCCCACGGCTGCTCGTGGCTTCCTCATGATGGCCTGAAACAAAAAGACCCAGCCAAAGCAGTCAGTCACAATGAGGCCAAATTTTGAGGCCTTCCAAGGGTGATAGCTATCTCCCTCTCATCCACCATTCACATGGGGTCCAGCTTCTCTCAAGCACTCTCAAGATGCTCACGGGTTTACTCTTGGCTGGCTGCAGCACTGAGATACAACTAGTATAGCTGAGCAAGTGGCCTCAAGGGGGCCGGCGTTACAGCCCTGGAGACATGCAAAGACTGTGAGGCCAGGGCTGGGATGGGTCAAGGATGAAAGCCTCCTGTTTGGGAGCATTTGTGTATCTCTGATGCTTACTGTGACTGTGTGTGT
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TTGAGACCAGCCTGGCCAACATGGTGAAACCCCATCTCTAAAAATACAAAAAATCATGGCTGGGTGTGGTAGCTCACACCTGTAATCCCAGCATTCTGGGAGGCTGAGGCGGGCGGATCACTTGAGGTCAAGAGTTGGAGACCAGCCTGGCCAGCATGGTGAAACCTCATCTCTACTAAAAATACAAAAATTAGCCAGGCATGGTGGCGGGCGCCTGTAATCCGAGCTACTCAGGAAGCTGAGGCAGGAGAATCACTTGAACCCGGGAGATGGAGGTTGCAGTCAACCGAGATAGCGCCATTGCACTCCAGCCTGGGCAACAGAGCGATTCTCCGTCTCAAAAAAAAATGCTTTTTTTCCTGTTTACACAGTAATATATTCATGTAGAACATGTAGGAAACACAAGGAAGTACAACAAAGACAACAAAGGTAGTGCCTTTTTCATGGCGGTGGAAACAGCTGCGGTGTGAAATTCCTCCTGCGTCAGCCAGCGAGCACCTGGTGGTACGGTGGTCACTGGGGTCTGCCCTTCCAAGGCCAGCCCATATACTTGATATGTCAGCTTGATGTGAGAGAAGGTGTGGACAACCTGGAGGAAGGGTCAAGGGGTTCAAATAGGCCTGTGGATATAGCCTCAAAAGCCAACATCCTTGGCTATTCCGCTGCTCACTTACCTCCCCAAGGTGCCGGAGGTGCGTGGCTGGGAGGGGCCCAGCCCAACGCTGTAGTTCCTGCAGCAGGGCCTTGCGCTGAAGCTGCTCTGAGGGCTCCCAGGTCACGGACGGGAACTCCCACAGTCCTGCCAGCAGACCTGAGAGGGAGGGCAGCCAGGCAGGGGTCAGGCCTCAGCTGCCGATTCCCTCCATTCTCTCTTGTTACTCATGCCACTGCCCTCCACGCCCAGTATCCAGGTACCTGAGTTGGGCCTCTGCACCAGCAGAATTTGGGCCCCAAGGGCCCCAGGCTGTTCCAGAACACAGGTGGCAGAGCTCTCCTCCCTGGGGGGCTTGCGGCTGGCCTTTCTGGGGAAGTTGACCACTCCCAGGGTCTGGTCCCAGGGCTCCGAGGGAGGCAGGCACAGGTGGCACTGTCCAGTGTTGGGAGCTGGGAACGGAGATCCCCGAACCCTACTCAAGCCAAGAGGGCTTTAGGGGCCAACCTAGAGAGTGGGCTTTGGCCGGGTTCTGCAGAATCTTACTCAGGTTAGAGGAAGAACTGGAATGGGGCTTCTGACTGGGCCAGGAAGGGTTGGGGTGGGGGCTAGGTTTGGTGCTCACCACACTCCTCCACGTCAGGACTGCCCGACAGGCTCCCTGAGGCTAAGAGCTGTTCCTGCTCCACCTGAGAGGCACAGGGTTGAGTGTCATAGGGCAGAGTCACTCCTTAGGACTTCTCACTGCCCCTTCCCCAGTAGGCTTACTCTCTGGCGTGCCCGGCACAGGCTCTCCACAGGGCACTGGCTGCACAGTGGGCGCTGTGGGGTACACACTGTGGCCCCTAGCTCCATGGCTGCTTGGTTGAAATCTCCTGGCCGGGCTGGGTCCACCAGCTGCTGGGCTAGACCCCTAAAAGAAGGGAACACTGCTGTGAAGCAGAGCTCCTTTGCAGACACCCCTGAAGCACCCTTGTTACCCCAACATCCTACCAGAGCTGCTGGGAAACAAGGGTGCTGCTGGGATCAGCACCAATGGCTCGGACACGGCACAGCACCCGTGCTACGTTGCCATCCACCACACCGGTTGCCTGGCACAGAGGGGCCAAAGAGTTAGCCTGGGCTGGGAGGAAGGAGGCTGGGCACGCACAAAGTGGGGGTGGGCTGTGAGATCACCTGGCCAAAGGCGATAGAGGCAATGGCCCCAGCTGTGTAGCGCCCCACGCCAGGCAGGAGCTGCTGCAGGGTCTCTGCTGTACGTGGCATGTGGCCCCCTAGCTCCTCTACCACCTGATTGGAGTGCAAGACTCAAGATTATAAGACACCCAAGACTCCTGGGTTCCTACCCTCCTGCCATCCCCTTACCTTCCGAGCTCCCTCCTGCAGCCGCCGGCCATGAGAATAGTAGCCCAGGCCAGCCCAGAGTTGATTCACCTCCTGTGGGTAGGATCAGAGGTCAAAGAGATCACCCGTCAGTCCCTCTATTGTTCCTATTTCCCCTACCCTAGGGTGGCTCTCACCTCCAGGGAAGCACTGGCCAGGTCCTGCAGTGTAGGCCACTTCTATAGCCACAGGCAGGCAGAAAGAGACAAGGTCAAGGGTGAAGGTGGTAGAGGAAGCCTTCTCTACACCCACCCCAAAGTAGAGGCTCTCATCTGGGGTCTGACCCATGACCCTTCCCTTCCTCCCCTGGAGTCACCTGCATCCATCCGGTATAGTAGTTGATCACAGTGGCAACCTGGGTCTGCTGCAGCATGACCTCTGAGACCCACACTGGGGGAAAGGGGTTGGCATGAGGACACTGCTGACCTGCCCCTACCTGGCCCACAGCCCCCAGACCCAAGGGCCTCGAGGCAAAGTGGCCCTGCTCTCAGGAGATGTACTGACCAGCATATGCCCGCCTGTCCAGGTCCATCTCATCTTCTGCCTGTCAATGCAACCCCAGATGAGGAGTTAGGGTGGAGGGGGCTGGGTGCCTGCCTCCCACCCACTGTCCCTGCTCCTCGCCTGCCTACCCGTCTTCTCCATGGTAGGTCCCGTTTCTCTTGGTCGTACCAGCTTAGCAGGCTCCCTCGGAAGGCTGTGACTTCAGCTACGTCTCTGAATAGATGGTATGAGGAGACAGAGGCCTGCAATACCACCTCTTCCGGCTGCCTGGCCAGGCCTGCTGGGGCCCCAGGACACTCAGCAATCATCCCTGCACAGGCTGTGCATCAGGGTCTTGGGACACAGCAGCCTGTGGCAGTATGCTCCCACTTAGGGCTTCCCCCAACTAACCCCCTTAAGCTTTGGAGCTGGAGTCAGACCAGAGTTATGTAATTGTGTGTAGCTGTGGCTAAGTTTCTGGCCTTAATTTTCTCAGGGTGGTACTACTGGCTTGTCTCTGAGCCATAATGAAAACCTAATAGTTTTAGCCAGCTAGAATGTATACTGGTGCAGGACCTTCCTATTCACAAAACACTTTCAGGCTCATAAACTCATTTGGTCCCATGAAAGCCACATGAGGGAGGAAATGCTGAACTACTGCTCCATTTTACTGGTAAGAAAGCAGCCATTCAGAGCAATTGTCCCAATGTCACACAGCAATACAGTCAGAATTACACCCTCAGTGAGTCTCTTTTGTTTTGAGACAAGAGTCTGGCTCTGTTGCCCAGACTGAAATGCAGTTGCATTATCTTGACTCAGTGCAACTTCTGCCTTCCAGGCTCAAGCGATCCTGTCACCTCAGCTTCCCGAGTAGCTGGGACTACAGACGCTCACCACCACGCGAGCATAGAGAGGGGATTTCGCCATGTTACCCAAGCTGGTCTCAAACTCCTGGGCTCAAGGGATCCACCTGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACCGCACCTGGCCCTTAGTAAGTCTCTTAATGTCTTGATACGTATCACAATCCCTTCCCAGCCTGAATCTGCCTTTCATGGCCAATGAGCCTTGGGCCACAACCTAGTTCCTTACCATCACAGGCAGAAGGCTTGGCCTGACTGTTGTTCTTAGCATGCTTCTGCCTCCCTTCCTGGCTGGCTGCCTGCTTCCTGTGACCACTTCCCACGGCTGCTCGTGGCTTCCTCATGATGGCCTGAAACAAAAAGACCCAGCCAAAGCAGTCAGTCACAATGAGGCCAAATTTTGAGGCCTTCCAAGGGTGATAGCTATCTCCCTCTCATCCACCATTCACATGGGGTCCAGCTTCTCTCAAGCACTCTCAAGATGCTCACGGGTTTACTCTTGGCTGGCTGCAGCACTGAGATACAACTAGTATAGCTGAGCAAGTGGCCTCAAGGGGGCCGGCGTTACAGCCCTGGAGACATGCAAAGACTGTGAGGCCAGGGCTGGGATGGGTCAAGGATGAAAGCCTCCTGTTTGGGAGCATTTGTGTATCTCTGATGCTTACTGTGACTGTGTGTGT
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Task1_train_866
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With a mutation on Chromosome 1 in gene MUTYH (mutY DNA glycosylase), classify this variant as benign or pathogenic. Include the disease if it's pathogenic.
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Pathogenic; Familial adenomatous polyposis 2
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TTGAGACCAGCCTGGCCAACATGGTGAAACCCCATCTCTAAAAATACAAAAAATCATGGCTGGGTGTGGTAGCTCACACCTGTAATCCCAGCATTCTGGGAGGCTGAGGCGGGCGGATCACTTGAGGTCAAGAGTTGGAGACCAGCCTGGCCAGCATGGTGAAACCTCATCTCTACTAAAAATACAAAAATTAGCCAGGCATGGTGGCGGGCGCCTGTAATCCGAGCTACTCAGGAAGCTGAGGCAGGAGAATCACTTGAACCCGGGAGATGGAGGTTGCAGTCAACCGAGATAGCGCCATTGCACTCCAGCCTGGGCAACAGAGCGATTCTCCGTCTCAAAAAAAAATGCTTTTTTTCCTGTTTACACAGTAATATATTCATGTAGAACATGTAGGAAACACAAGGAAGTACAACAAAGACAACAAAGGTAGTGCCTTTTTCATGGCGGTGGAAACAGCTGCGGTGTGAAATTCCTCCTGCGTCAGCCAGCGAGCACCTGGTGGTACGGTGGTCACTGGGGTCTGCCCTTCCAAGGCCAGCCCATATACTTGATATGTCAGCTTGATGTGAGAGAAGGTGTGGACAACCTGGAGGAAGGGTCAAGGGGTTCAAATAGGCCTGTGGATATAGCCTCAAAAGCCAACATCCTTGGCTATTCCGCTGCTCACTTACCTCCCCAAGGTGCCGGAGGTGCGTGGCTGGGAGGGGCCCAGCCCAACGCTGTAGTTCCTGCAGCAGGGCCTTGCGCTGAAGCTGCTCTGAGGGCTCCCAGGTCACGGACGGGAACTCCCACAGTCCTGCCAGCAGACCTGAGAGGGAGGGCAGCCAGGCAGGGGTCAGGCCTCAGCTGCCGATTCCCTCCATTCTCTCTTGTTACTCATGCCACTGCCCTCCACGCCCAGTATCCAGGTACCTGAGTTGGGCCTCTGCACCAGCAGAATTTGGGCCCCAAGGGCCCCAGGCTGTTCCAGAACACAGGTGGCAGAGCTCTCCTCCCTGGGGGGCTTGCGGCTGGCCTTTCTGGGGAAGTTGACCACTCCCAGGGTCTGGTCCCAGGGCTCCGAGGGAGGCAGGCACAGGTGGCACTGTCCAGTGTTGGGAGCTGGGAACGGAGATCCCCGAACCCTACTCAAGCCAAGAGGGCTTTAGGGGCCAACCTAGAGAGTGGGCTTTGGCCGGGTTCTGCAGAATCTTACTCAGGTTAGAGGAAGAACTGGAATGGGGCTTCTGACTGGGCCAGGAAGGGTTGGGGTGGGGGCTAGGTTTGGTGCTCACCACACTCCTCCACGTCAGGACTGCCCGACAGGCTCCCTGAGGCTAAGAGCTGTTCCTGCTCCACCTGAGAGGCACAGGGTTGAGTGTCATAGGGCAGAGTCACTCCTTAGGACTTCTCACTGCCCCTTCCCCAGTAGGCTTACTCTCTGGCGTGCCCGGCACAGGCTCTCCACAGGGCACTGGCTGCACAGTGGGCGCTGTGGGGTACACACTGTGGCCCCTAGCTCCATGGCTGCTTGGTTGAAATCTCCTGGCCGGGCTGGGTCCACCAGCTGCTGGGCTAGACCCCTAAAAGAAGGGAACACTGCTGTGAAGCAGAGCTCCTTTGCAGACACCCCTGAAGCACCCTTGTTACCCCAACATCCTACCAGAGCTGCTGGGAAACAAGGGTGCTGCTGGGATCAGCACCAATGGCTCGGACACGGCACAGCACCCGTGCTACGTTGCCATCCACCACACCGGTTGCCTGGCACAGAGGGGCCAAAGAGTTAGCCTGGGCTGGGAGGAAGGAGGCTGGGCACGCACAAAGTGGGGGTGGGCTGTGAGATCACCTGGCCAAAGGCGATAGAGGCAATGGCCCCAGCTGTGTAGCGCCCCACGCCAGGCAGGAGCTGCTGCAGGGTCTCTGCTGTACGTGGCATGTGGCCCCCTAGCTCCTCTACCACCTGATTGGAGTGCAAGACTCAAGATTATAAGACACCCAAGACTCCTGGGTTCCTACCCTCCTGCCATCCCCTTACCTTCCGAGCTCCCTCCTGCAGCCGCCGGCCACGAGAATAGTAGCCCAGGCCAGCCCAGAGTTGATTCACCTCCTGTGGGTAGGATCAGAGGTCAAAGAGATCACCCGTCAGTCCCTCTATTGTTCCTATTTCCCCTACCCTAGGGTGGCTCTCACCTCCAGGGAAGCACTGGCCAGGTCCTGCAGTGTAGGCCACTTCTATAGCCACAGGCAGGCAGAAAGAGACAAGGTCAAGGGTGAAGGTGGTAGAGGAAGCCTTCTCTACACCCACCCCAAAGTAGAGGCTCTCATCTGGGGTCTGACCCATGACCCTTCCCTTCCTCCCCTGGAGTCACCTGCATCCATCCGGTATAGTAGTTGATCACAGTGGCAACCTGGGTCTGCTGCAGCATGACCTCTGAGACCCACACTGGGGGAAAGGGGTTGGCATGAGGACACTGCTGACCTGCCCCTACCTGGCCCACAGCCCCCAGACCCAAGGGCCTCGAGGCAAAGTGGCCCTGCTCTCAGGAGATGTACTGACCAGCATATGCCCGCCTGTCCAGGTCCATCTCATCTTCTGCCTGTCAATGCAACCCCAGATGAGGAGTTAGGGTGGAGGGGGCTGGGTGCCTGCCTCCCACCCACTGTCCCTGCTCCTCGCCTGCCTACCCGTCTTCTCCATGGTAGGTCCCGTTTCTCTTGGTCGTACCAGCTTAGCAGGCTCCCTCGGAAGGCTGTGACTTCAGCTACGTCTCTGAATAGATGGTATGAGGAGACAGAGGCCTGCAATACCACCTCTTCCGGCTGCCTGGCCAGGCCTGCTGGGGCCCCAGGACACTCAGCAATCATCCCTGCACAGGCTGTGCATCAGGGTCTTGGGACACAGCAGCCTGTGGCAGTATGCTCCCACTTAGGGCTTCCCCCAACTAACCCCCTTAAGCTTTGGAGCTGGAGTCAGACCAGAGTTATGTAATTGTGTGTAGCTGTGGCTAAGTTTCTGGCCTTAATTTTCTCAGGGTGGTACTACTGGCTTGTCTCTGAGCCATAATGAAAACCTAATAGTTTTAGCCAGCTAGAATGTATACTGGTGCAGGACCTTCCTATTCACAAAACACTTTCAGGCTCATAAACTCATTTGGTCCCATGAAAGCCACATGAGGGAGGAAATGCTGAACTACTGCTCCATTTTACTGGTAAGAAAGCAGCCATTCAGAGCAATTGTCCCAATGTCACACAGCAATACAGTCAGAATTACACCCTCAGTGAGTCTCTTTTGTTTTGAGACAAGAGTCTGGCTCTGTTGCCCAGACTGAAATGCAGTTGCATTATCTTGACTCAGTGCAACTTCTGCCTTCCAGGCTCAAGCGATCCTGTCACCTCAGCTTCCCGAGTAGCTGGGACTACAGACGCTCACCACCACGCGAGCATAGAGAGGGGATTTCGCCATGTTACCCAAGCTGGTCTCAAACTCCTGGGCTCAAGGGATCCACCTGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACCGCACCTGGCCCTTAGTAAGTCTCTTAATGTCTTGATACGTATCACAATCCCTTCCCAGCCTGAATCTGCCTTTCATGGCCAATGAGCCTTGGGCCACAACCTAGTTCCTTACCATCACAGGCAGAAGGCTTGGCCTGACTGTTGTTCTTAGCATGCTTCTGCCTCCCTTCCTGGCTGGCTGCCTGCTTCCTGTGACCACTTCCCACGGCTGCTCGTGGCTTCCTCATGATGGCCTGAAACAAAAAGACCCAGCCAAAGCAGTCAGTCACAATGAGGCCAAATTTTGAGGCCTTCCAAGGGTGATAGCTATCTCCCTCTCATCCACCATTCACATGGGGTCCAGCTTCTCTCAAGCACTCTCAAGATGCTCACGGGTTTACTCTTGGCTGGCTGCAGCACTGAGATACAACTAGTATAGCTGAGCAAGTGGCCTCAAGGGGGCCGGCGTTACAGCCCTGGAGACATGCAAAGACTGTGAGGCCAGGGCTGGGATGGGTCAAGGATGAAAGCCTCCTGTTTGGGAGCATTTGTGTATCTCTGATGCTTACTGTGACTGTGTGTGT
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TTGAGACCAGCCTGGCCAACATGGTGAAACCCCATCTCTAAAAATACAAAAAATCATGGCTGGGTGTGGTAGCTCACACCTGTAATCCCAGCATTCTGGGAGGCTGAGGCGGGCGGATCACTTGAGGTCAAGAGTTGGAGACCAGCCTGGCCAGCATGGTGAAACCTCATCTCTACTAAAAATACAAAAATTAGCCAGGCATGGTGGCGGGCGCCTGTAATCCGAGCTACTCAGGAAGCTGAGGCAGGAGAATCACTTGAACCCGGGAGATGGAGGTTGCAGTCAACCGAGATAGCGCCATTGCACTCCAGCCTGGGCAACAGAGCGATTCTCCGTCTCAAAAAAAAATGCTTTTTTTCCTGTTTACACAGTAATATATTCATGTAGAACATGTAGGAAACACAAGGAAGTACAACAAAGACAACAAAGGTAGTGCCTTTTTCATGGCGGTGGAAACAGCTGCGGTGTGAAATTCCTCCTGCGTCAGCCAGCGAGCACCTGGTGGTACGGTGGTCACTGGGGTCTGCCCTTCCAAGGCCAGCCCATATACTTGATATGTCAGCTTGATGTGAGAGAAGGTGTGGACAACCTGGAGGAAGGGTCAAGGGGTTCAAATAGGCCTGTGGATATAGCCTCAAAAGCCAACATCCTTGGCTATTCCGCTGCTCACTTACCTCCCCAAGGTGCCGGAGGTGCGTGGCTGGGAGGGGCCCAGCCCAACGCTGTAGTTCCTGCAGCAGGGCCTTGCGCTGAAGCTGCTCTGAGGGCTCCCAGGTCACGGACGGGAACTCCCACAGTCCTGCCAGCAGACCTGAGAGGGAGGGCAGCCAGGCAGGGGTCAGGCCTCAGCTGCCGATTCCCTCCATTCTCTCTTGTTACTCATGCCACTGCCCTCCACGCCCAGTATCCAGGTACCTGAGTTGGGCCTCTGCACCAGCAGAATTTGGGCCCCAAGGGCCCCAGGCTGTTCCAGAACACAGGTGGCAGAGCTCTCCTCCCTGGGGGGCTTGCGGCTGGCCTTTCTGGGGAAGTTGACCACTCCCAGGGTCTGGTCCCAGGGCTCCGAGGGAGGCAGGCACAGGTGGCACTGTCCAGTGTTGGGAGCTGGGAACGGAGATCCCCGAACCCTACTCAAGCCAAGAGGGCTTTAGGGGCCAACCTAGAGAGTGGGCTTTGGCCGGGTTCTGCAGAATCTTACTCAGGTTAGAGGAAGAACTGGAATGGGGCTTCTGACTGGGCCAGGAAGGGTTGGGGTGGGGGCTAGGTTTGGTGCTCACCACACTCCTCCACGTCAGGACTGCCCGACAGGCTCCCTGAGGCTAAGAGCTGTTCCTGCTCCACCTGAGAGGCACAGGGTTGAGTGTCATAGGGCAGAGTCACTCCTTAGGACTTCTCACTGCCCCTTCCCCAGTAGGCTTACTCTCTGGCGTGCCCGGCACAGGCTCTCCACAGGGCACTGGCTGCACAGTGGGCGCTGTGGGGTACACACTGTGGCCCCTAGCTCCATGGCTGCTTGGTTGAAATCTCCTGGCCGGGCTGGGTCCACCAGCTGCTGGGCTAGACCCCTAAAAGAAGGGAACACTGCTGTGAAGCAGAGCTCCTTTGCAGACACCCCTGAAGCACCCTTGTTACCCCAACATCCTACCAGAGCTGCTGGGAAACAAGGGTGCTGCTGGGATCAGCACCAATGGCTCGGACACGGCACAGCACCCGTGCTACGTTGCCATCCACCACACCGGTTGCCTGGCACAGAGGGGCCAAAGAGTTAGCCTGGGCTGGGAGGAAGGAGGCTGGGCACGCACAAAGTGGGGGTGGGCTGTGAGATCACCTGGCCAAAGGCGATAGAGGCAATGGCCCCAGCTGTGTAGCGCCCCACGCCAGGCAGGAGCTGCTGCAGGGTCTCTGCTGTACGTGGCATGTGGCCCCCTAGCTCCTCTACCACCTGATTGGAGTGCAAGACTCAAGATTATAAGACACCCAAGACTCCTGGGTTCCTACCCTCCTGCCATCCCCTTACCTTCCGAGCTCCCTCCTGCAGCCGCCGGCCATGAGAATAGTAGCCCAGGCCAGCCCAGAGTTGATTCACCTCCTGTGGGTAGGATCAGAGGTCAAAGAGATCACCCGTCAGTCCCTCTATTGTTCCTATTTCCCCTACCCTAGGGTGGCTCTCACCTCCAGGGAAGCACTGGCCAGGTCCTGCAGTGTAGGCCACTTCTATAGCCACAGGCAGGCAGAAAGAGACAAGGTCAAGGGTGAAGGTGGTAGAGGAAGCCTTCTCTACACCCACCCCAAAGTAGAGGCTCTCATCTGGGGTCTGACCCATGACCCTTCCCTTCCTCCCCTGGAGTCACCTGCATCCATCCGGTATAGTAGTTGATCACAGTGGCAACCTGGGTCTGCTGCAGCATGACCTCTGAGACCCACACTGGGGGAAAGGGGTTGGCATGAGGACACTGCTGACCTGCCCCTACCTGGCCCACAGCCCCCAGACCCAAGGGCCTCGAGGCAAAGTGGCCCTGCTCTCAGGAGATGTACTGACCAGCATATGCCCGCCTGTCCAGGTCCATCTCATCTTCTGCCTGTCAATGCAACCCCAGATGAGGAGTTAGGGTGGAGGGGGCTGGGTGCCTGCCTCCCACCCACTGTCCCTGCTCCTCGCCTGCCTACCCGTCTTCTCCATGGTAGGTCCCGTTTCTCTTGGTCGTACCAGCTTAGCAGGCTCCCTCGGAAGGCTGTGACTTCAGCTACGTCTCTGAATAGATGGTATGAGGAGACAGAGGCCTGCAATACCACCTCTTCCGGCTGCCTGGCCAGGCCTGCTGGGGCCCCAGGACACTCAGCAATCATCCCTGCACAGGCTGTGCATCAGGGTCTTGGGACACAGCAGCCTGTGGCAGTATGCTCCCACTTAGGGCTTCCCCCAACTAACCCCCTTAAGCTTTGGAGCTGGAGTCAGACCAGAGTTATGTAATTGTGTGTAGCTGTGGCTAAGTTTCTGGCCTTAATTTTCTCAGGGTGGTACTACTGGCTTGTCTCTGAGCCATAATGAAAACCTAATAGTTTTAGCCAGCTAGAATGTATACTGGTGCAGGACCTTCCTATTCACAAAACACTTTCAGGCTCATAAACTCATTTGGTCCCATGAAAGCCACATGAGGGAGGAAATGCTGAACTACTGCTCCATTTTACTGGTAAGAAAGCAGCCATTCAGAGCAATTGTCCCAATGTCACACAGCAATACAGTCAGAATTACACCCTCAGTGAGTCTCTTTTGTTTTGAGACAAGAGTCTGGCTCTGTTGCCCAGACTGAAATGCAGTTGCATTATCTTGACTCAGTGCAACTTCTGCCTTCCAGGCTCAAGCGATCCTGTCACCTCAGCTTCCCGAGTAGCTGGGACTACAGACGCTCACCACCACGCGAGCATAGAGAGGGGATTTCGCCATGTTACCCAAGCTGGTCTCAAACTCCTGGGCTCAAGGGATCCACCTGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACCGCACCTGGCCCTTAGTAAGTCTCTTAATGTCTTGATACGTATCACAATCCCTTCCCAGCCTGAATCTGCCTTTCATGGCCAATGAGCCTTGGGCCACAACCTAGTTCCTTACCATCACAGGCAGAAGGCTTGGCCTGACTGTTGTTCTTAGCATGCTTCTGCCTCCCTTCCTGGCTGGCTGCCTGCTTCCTGTGACCACTTCCCACGGCTGCTCGTGGCTTCCTCATGATGGCCTGAAACAAAAAGACCCAGCCAAAGCAGTCAGTCACAATGAGGCCAAATTTTGAGGCCTTCCAAGGGTGATAGCTATCTCCCTCTCATCCACCATTCACATGGGGTCCAGCTTCTCTCAAGCACTCTCAAGATGCTCACGGGTTTACTCTTGGCTGGCTGCAGCACTGAGATACAACTAGTATAGCTGAGCAAGTGGCCTCAAGGGGGCCGGCGTTACAGCCCTGGAGACATGCAAAGACTGTGAGGCCAGGGCTGGGATGGGTCAAGGATGAAAGCCTCCTGTTTGGGAGCATTTGTGTATCTCTGATGCTTACTGTGACTGTGTGTGT
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Task1_train_867
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The following genetic variant occurs in MUTYH (mutY DNA glycosylase) on Chromosome 1. Classify its clinical effect — pathogenic or benign — and list any associated condition.
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Pathogenic; Familial colorectal cancer type X
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TTGAGACCAGCCTGGCCAACATGGTGAAACCCCATCTCTAAAAATACAAAAAATCATGGCTGGGTGTGGTAGCTCACACCTGTAATCCCAGCATTCTGGGAGGCTGAGGCGGGCGGATCACTTGAGGTCAAGAGTTGGAGACCAGCCTGGCCAGCATGGTGAAACCTCATCTCTACTAAAAATACAAAAATTAGCCAGGCATGGTGGCGGGCGCCTGTAATCCGAGCTACTCAGGAAGCTGAGGCAGGAGAATCACTTGAACCCGGGAGATGGAGGTTGCAGTCAACCGAGATAGCGCCATTGCACTCCAGCCTGGGCAACAGAGCGATTCTCCGTCTCAAAAAAAAATGCTTTTTTTCCTGTTTACACAGTAATATATTCATGTAGAACATGTAGGAAACACAAGGAAGTACAACAAAGACAACAAAGGTAGTGCCTTTTTCATGGCGGTGGAAACAGCTGCGGTGTGAAATTCCTCCTGCGTCAGCCAGCGAGCACCTGGTGGTACGGTGGTCACTGGGGTCTGCCCTTCCAAGGCCAGCCCATATACTTGATATGTCAGCTTGATGTGAGAGAAGGTGTGGACAACCTGGAGGAAGGGTCAAGGGGTTCAAATAGGCCTGTGGATATAGCCTCAAAAGCCAACATCCTTGGCTATTCCGCTGCTCACTTACCTCCCCAAGGTGCCGGAGGTGCGTGGCTGGGAGGGGCCCAGCCCAACGCTGTAGTTCCTGCAGCAGGGCCTTGCGCTGAAGCTGCTCTGAGGGCTCCCAGGTCACGGACGGGAACTCCCACAGTCCTGCCAGCAGACCTGAGAGGGAGGGCAGCCAGGCAGGGGTCAGGCCTCAGCTGCCGATTCCCTCCATTCTCTCTTGTTACTCATGCCACTGCCCTCCACGCCCAGTATCCAGGTACCTGAGTTGGGCCTCTGCACCAGCAGAATTTGGGCCCCAAGGGCCCCAGGCTGTTCCAGAACACAGGTGGCAGAGCTCTCCTCCCTGGGGGGCTTGCGGCTGGCCTTTCTGGGGAAGTTGACCACTCCCAGGGTCTGGTCCCAGGGCTCCGAGGGAGGCAGGCACAGGTGGCACTGTCCAGTGTTGGGAGCTGGGAACGGAGATCCCCGAACCCTACTCAAGCCAAGAGGGCTTTAGGGGCCAACCTAGAGAGTGGGCTTTGGCCGGGTTCTGCAGAATCTTACTCAGGTTAGAGGAAGAACTGGAATGGGGCTTCTGACTGGGCCAGGAAGGGTTGGGGTGGGGGCTAGGTTTGGTGCTCACCACACTCCTCCACGTCAGGACTGCCCGACAGGCTCCCTGAGGCTAAGAGCTGTTCCTGCTCCACCTGAGAGGCACAGGGTTGAGTGTCATAGGGCAGAGTCACTCCTTAGGACTTCTCACTGCCCCTTCCCCAGTAGGCTTACTCTCTGGCGTGCCCGGCACAGGCTCTCCACAGGGCACTGGCTGCACAGTGGGCGCTGTGGGGTACACACTGTGGCCCCTAGCTCCATGGCTGCTTGGTTGAAATCTCCTGGCCGGGCTGGGTCCACCAGCTGCTGGGCTAGACCCCTAAAAGAAGGGAACACTGCTGTGAAGCAGAGCTCCTTTGCAGACACCCCTGAAGCACCCTTGTTACCCCAACATCCTACCAGAGCTGCTGGGAAACAAGGGTGCTGCTGGGATCAGCACCAATGGCTCGGACACGGCACAGCACCCGTGCTACGTTGCCATCCACCACACCGGTTGCCTGGCACAGAGGGGCCAAAGAGTTAGCCTGGGCTGGGAGGAAGGAGGCTGGGCACGCACAAAGTGGGGGTGGGCTGTGAGATCACCTGGCCAAAGGCGATAGAGGCAATGGCCCCAGCTGTGTAGCGCCCCACGCCAGGCAGGAGCTGCTGCAGGGTCTCTGCTGTACGTGGCATGTGGCCCCCTAGCTCCTCTACCACCTGATTGGAGTGCAAGACTCAAGATTATAAGACACCCAAGACTCCTGGGTTCCTACCCTCCTGCCATCCCCTTACCTTCCGAGCTCCCTCCTGCAGCCGCCGGCCACGAGAATAGTAGCCCAGGCCAGCCCAGAGTTGATTCACCTCCTGTGGGTAGGATCAGAGGTCAAAGAGATCACCCGTCAGTCCCTCTATTGTTCCTATTTCCCCTACCCTAGGGTGGCTCTCACCTCCAGGGAAGCACTGGCCAGGTCCTGCAGTGTAGGCCACTTCTATAGCCACAGGCAGGCAGAAAGAGACAAGGTCAAGGGTGAAGGTGGTAGAGGAAGCCTTCTCTACACCCACCCCAAAGTAGAGGCTCTCATCTGGGGTCTGACCCATGACCCTTCCCTTCCTCCCCTGGAGTCACCTGCATCCATCCGGTATAGTAGTTGATCACAGTGGCAACCTGGGTCTGCTGCAGCATGACCTCTGAGACCCACACTGGGGGAAAGGGGTTGGCATGAGGACACTGCTGACCTGCCCCTACCTGGCCCACAGCCCCCAGACCCAAGGGCCTCGAGGCAAAGTGGCCCTGCTCTCAGGAGATGTACTGACCAGCATATGCCCGCCTGTCCAGGTCCATCTCATCTTCTGCCTGTCAATGCAACCCCAGATGAGGAGTTAGGGTGGAGGGGGCTGGGTGCCTGCCTCCCACCCACTGTCCCTGCTCCTCGCCTGCCTACCCGTCTTCTCCATGGTAGGTCCCGTTTCTCTTGGTCGTACCAGCTTAGCAGGCTCCCTCGGAAGGCTGTGACTTCAGCTACGTCTCTGAATAGATGGTATGAGGAGACAGAGGCCTGCAATACCACCTCTTCCGGCTGCCTGGCCAGGCCTGCTGGGGCCCCAGGACACTCAGCAATCATCCCTGCACAGGCTGTGCATCAGGGTCTTGGGACACAGCAGCCTGTGGCAGTATGCTCCCACTTAGGGCTTCCCCCAACTAACCCCCTTAAGCTTTGGAGCTGGAGTCAGACCAGAGTTATGTAATTGTGTGTAGCTGTGGCTAAGTTTCTGGCCTTAATTTTCTCAGGGTGGTACTACTGGCTTGTCTCTGAGCCATAATGAAAACCTAATAGTTTTAGCCAGCTAGAATGTATACTGGTGCAGGACCTTCCTATTCACAAAACACTTTCAGGCTCATAAACTCATTTGGTCCCATGAAAGCCACATGAGGGAGGAAATGCTGAACTACTGCTCCATTTTACTGGTAAGAAAGCAGCCATTCAGAGCAATTGTCCCAATGTCACACAGCAATACAGTCAGAATTACACCCTCAGTGAGTCTCTTTTGTTTTGAGACAAGAGTCTGGCTCTGTTGCCCAGACTGAAATGCAGTTGCATTATCTTGACTCAGTGCAACTTCTGCCTTCCAGGCTCAAGCGATCCTGTCACCTCAGCTTCCCGAGTAGCTGGGACTACAGACGCTCACCACCACGCGAGCATAGAGAGGGGATTTCGCCATGTTACCCAAGCTGGTCTCAAACTCCTGGGCTCAAGGGATCCACCTGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACCGCACCTGGCCCTTAGTAAGTCTCTTAATGTCTTGATACGTATCACAATCCCTTCCCAGCCTGAATCTGCCTTTCATGGCCAATGAGCCTTGGGCCACAACCTAGTTCCTTACCATCACAGGCAGAAGGCTTGGCCTGACTGTTGTTCTTAGCATGCTTCTGCCTCCCTTCCTGGCTGGCTGCCTGCTTCCTGTGACCACTTCCCACGGCTGCTCGTGGCTTCCTCATGATGGCCTGAAACAAAAAGACCCAGCCAAAGCAGTCAGTCACAATGAGGCCAAATTTTGAGGCCTTCCAAGGGTGATAGCTATCTCCCTCTCATCCACCATTCACATGGGGTCCAGCTTCTCTCAAGCACTCTCAAGATGCTCACGGGTTTACTCTTGGCTGGCTGCAGCACTGAGATACAACTAGTATAGCTGAGCAAGTGGCCTCAAGGGGGCCGGCGTTACAGCCCTGGAGACATGCAAAGACTGTGAGGCCAGGGCTGGGATGGGTCAAGGATGAAAGCCTCCTGTTTGGGAGCATTTGTGTATCTCTGATGCTTACTGTGACTGTGTGTGT
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TTGAGACCAGCCTGGCCAACATGGTGAAACCCCATCTCTAAAAATACAAAAAATCATGGCTGGGTGTGGTAGCTCACACCTGTAATCCCAGCATTCTGGGAGGCTGAGGCGGGCGGATCACTTGAGGTCAAGAGTTGGAGACCAGCCTGGCCAGCATGGTGAAACCTCATCTCTACTAAAAATACAAAAATTAGCCAGGCATGGTGGCGGGCGCCTGTAATCCGAGCTACTCAGGAAGCTGAGGCAGGAGAATCACTTGAACCCGGGAGATGGAGGTTGCAGTCAACCGAGATAGCGCCATTGCACTCCAGCCTGGGCAACAGAGCGATTCTCCGTCTCAAAAAAAAATGCTTTTTTTCCTGTTTACACAGTAATATATTCATGTAGAACATGTAGGAAACACAAGGAAGTACAACAAAGACAACAAAGGTAGTGCCTTTTTCATGGCGGTGGAAACAGCTGCGGTGTGAAATTCCTCCTGCGTCAGCCAGCGAGCACCTGGTGGTACGGTGGTCACTGGGGTCTGCCCTTCCAAGGCCAGCCCATATACTTGATATGTCAGCTTGATGTGAGAGAAGGTGTGGACAACCTGGAGGAAGGGTCAAGGGGTTCAAATAGGCCTGTGGATATAGCCTCAAAAGCCAACATCCTTGGCTATTCCGCTGCTCACTTACCTCCCCAAGGTGCCGGAGGTGCGTGGCTGGGAGGGGCCCAGCCCAACGCTGTAGTTCCTGCAGCAGGGCCTTGCGCTGAAGCTGCTCTGAGGGCTCCCAGGTCACGGACGGGAACTCCCACAGTCCTGCCAGCAGACCTGAGAGGGAGGGCAGCCAGGCAGGGGTCAGGCCTCAGCTGCCGATTCCCTCCATTCTCTCTTGTTACTCATGCCACTGCCCTCCACGCCCAGTATCCAGGTACCTGAGTTGGGCCTCTGCACCAGCAGAATTTGGGCCCCAAGGGCCCCAGGCTGTTCCAGAACACAGGTGGCAGAGCTCTCCTCCCTGGGGGGCTTGCGGCTGGCCTTTCTGGGGAAGTTGACCACTCCCAGGGTCTGGTCCCAGGGCTCCGAGGGAGGCAGGCACAGGTGGCACTGTCCAGTGTTGGGAGCTGGGAACGGAGATCCCCGAACCCTACTCAAGCCAAGAGGGCTTTAGGGGCCAACCTAGAGAGTGGGCTTTGGCCGGGTTCTGCAGAATCTTACTCAGGTTAGAGGAAGAACTGGAATGGGGCTTCTGACTGGGCCAGGAAGGGTTGGGGTGGGGGCTAGGTTTGGTGCTCACCACACTCCTCCACGTCAGGACTGCCCGACAGGCTCCCTGAGGCTAAGAGCTGTTCCTGCTCCACCTGAGAGGCACAGGGTTGAGTGTCATAGGGCAGAGTCACTCCTTAGGACTTCTCACTGCCCCTTCCCCAGTAGGCTTACTCTCTGGCGTGCCCGGCACAGGCTCTCCACAGGGCACTGGCTGCACAGTGGGCGCTGTGGGGTACACACTGTGGCCCCTAGCTCCATGGCTGCTTGGTTGAAATCTCCTGGCCGGGCTGGGTCCACCAGCTGCTGGGCTAGACCCCTAAAAGAAGGGAACACTGCTGTGAAGCAGAGCTCCTTTGCAGACACCCCTGAAGCACCCTTGTTACCCCAACATCCTACCAGAGCTGCTGGGAAACAAGGGTGCTGCTGGGATCAGCACCAATGGCTCGGACACGGCACAGCACCCGTGCTACGTTGCCATCCACCACACCGGTTGCCTGGCACAGAGGGGCCAAAGAGTTAGCCTGGGCTGGGAGGAAGGAGGCTGGGCACGCACAAAGTGGGGGTGGGCTGTGAGATCACCTGGCCAAAGGCGATAGAGGCAATGGCCCCAGCTGTGTAGCGCCCCACGCCAGGCAGGAGCTGCTGCAGGGTCTCTGCTGTACGTGGCATGTGGCCCCCTAGCTCCTCTACCACCTGATTGGAGTGCAAGACTCAAGATTATAAGACACCCAAGACTCCTGGGTTCCTACCCTCCTGCCATCCCCTTACCTTCCGAGCTCCCTCCTGCAGCCGCCGGCCATGAGAATAGTAGCCCAGGCCAGCCCAGAGTTGATTCACCTCCTGTGGGTAGGATCAGAGGTCAAAGAGATCACCCGTCAGTCCCTCTATTGTTCCTATTTCCCCTACCCTAGGGTGGCTCTCACCTCCAGGGAAGCACTGGCCAGGTCCTGCAGTGTAGGCCACTTCTATAGCCACAGGCAGGCAGAAAGAGACAAGGTCAAGGGTGAAGGTGGTAGAGGAAGCCTTCTCTACACCCACCCCAAAGTAGAGGCTCTCATCTGGGGTCTGACCCATGACCCTTCCCTTCCTCCCCTGGAGTCACCTGCATCCATCCGGTATAGTAGTTGATCACAGTGGCAACCTGGGTCTGCTGCAGCATGACCTCTGAGACCCACACTGGGGGAAAGGGGTTGGCATGAGGACACTGCTGACCTGCCCCTACCTGGCCCACAGCCCCCAGACCCAAGGGCCTCGAGGCAAAGTGGCCCTGCTCTCAGGAGATGTACTGACCAGCATATGCCCGCCTGTCCAGGTCCATCTCATCTTCTGCCTGTCAATGCAACCCCAGATGAGGAGTTAGGGTGGAGGGGGCTGGGTGCCTGCCTCCCACCCACTGTCCCTGCTCCTCGCCTGCCTACCCGTCTTCTCCATGGTAGGTCCCGTTTCTCTTGGTCGTACCAGCTTAGCAGGCTCCCTCGGAAGGCTGTGACTTCAGCTACGTCTCTGAATAGATGGTATGAGGAGACAGAGGCCTGCAATACCACCTCTTCCGGCTGCCTGGCCAGGCCTGCTGGGGCCCCAGGACACTCAGCAATCATCCCTGCACAGGCTGTGCATCAGGGTCTTGGGACACAGCAGCCTGTGGCAGTATGCTCCCACTTAGGGCTTCCCCCAACTAACCCCCTTAAGCTTTGGAGCTGGAGTCAGACCAGAGTTATGTAATTGTGTGTAGCTGTGGCTAAGTTTCTGGCCTTAATTTTCTCAGGGTGGTACTACTGGCTTGTCTCTGAGCCATAATGAAAACCTAATAGTTTTAGCCAGCTAGAATGTATACTGGTGCAGGACCTTCCTATTCACAAAACACTTTCAGGCTCATAAACTCATTTGGTCCCATGAAAGCCACATGAGGGAGGAAATGCTGAACTACTGCTCCATTTTACTGGTAAGAAAGCAGCCATTCAGAGCAATTGTCCCAATGTCACACAGCAATACAGTCAGAATTACACCCTCAGTGAGTCTCTTTTGTTTTGAGACAAGAGTCTGGCTCTGTTGCCCAGACTGAAATGCAGTTGCATTATCTTGACTCAGTGCAACTTCTGCCTTCCAGGCTCAAGCGATCCTGTCACCTCAGCTTCCCGAGTAGCTGGGACTACAGACGCTCACCACCACGCGAGCATAGAGAGGGGATTTCGCCATGTTACCCAAGCTGGTCTCAAACTCCTGGGCTCAAGGGATCCACCTGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACCGCACCTGGCCCTTAGTAAGTCTCTTAATGTCTTGATACGTATCACAATCCCTTCCCAGCCTGAATCTGCCTTTCATGGCCAATGAGCCTTGGGCCACAACCTAGTTCCTTACCATCACAGGCAGAAGGCTTGGCCTGACTGTTGTTCTTAGCATGCTTCTGCCTCCCTTCCTGGCTGGCTGCCTGCTTCCTGTGACCACTTCCCACGGCTGCTCGTGGCTTCCTCATGATGGCCTGAAACAAAAAGACCCAGCCAAAGCAGTCAGTCACAATGAGGCCAAATTTTGAGGCCTTCCAAGGGTGATAGCTATCTCCCTCTCATCCACCATTCACATGGGGTCCAGCTTCTCTCAAGCACTCTCAAGATGCTCACGGGTTTACTCTTGGCTGGCTGCAGCACTGAGATACAACTAGTATAGCTGAGCAAGTGGCCTCAAGGGGGCCGGCGTTACAGCCCTGGAGACATGCAAAGACTGTGAGGCCAGGGCTGGGATGGGTCAAGGATGAAAGCCTCCTGTTTGGGAGCATTTGTGTATCTCTGATGCTTACTGTGACTGTGTGTGT
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Task1_train_868
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This genomic variant is located on Chromosome 1, within the MUTYH (mutY DNA glycosylase) gene. Can you determine its pathogenicity and name any linked disease?
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Pathogenic; Familial adenomatous polyposis 2
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CACCTGGTGGTACGGTGGTCACTGGGGTCTGCCCTTCCAAGGCCAGCCCATATACTTGATATGTCAGCTTGATGTGAGAGAAGGTGTGGACAACCTGGAGGAAGGGTCAAGGGGTTCAAATAGGCCTGTGGATATAGCCTCAAAAGCCAACATCCTTGGCTATTCCGCTGCTCACTTACCTCCCCAAGGTGCCGGAGGTGCGTGGCTGGGAGGGGCCCAGCCCAACGCTGTAGTTCCTGCAGCAGGGCCTTGCGCTGAAGCTGCTCTGAGGGCTCCCAGGTCACGGACGGGAACTCCCACAGTCCTGCCAGCAGACCTGAGAGGGAGGGCAGCCAGGCAGGGGTCAGGCCTCAGCTGCCGATTCCCTCCATTCTCTCTTGTTACTCATGCCACTGCCCTCCACGCCCAGTATCCAGGTACCTGAGTTGGGCCTCTGCACCAGCAGAATTTGGGCCCCAAGGGCCCCAGGCTGTTCCAGAACACAGGTGGCAGAGCTCTCCTCCCTGGGGGGCTTGCGGCTGGCCTTTCTGGGGAAGTTGACCACTCCCAGGGTCTGGTCCCAGGGCTCCGAGGGAGGCAGGCACAGGTGGCACTGTCCAGTGTTGGGAGCTGGGAACGGAGATCCCCGAACCCTACTCAAGCCAAGAGGGCTTTAGGGGCCAACCTAGAGAGTGGGCTTTGGCCGGGTTCTGCAGAATCTTACTCAGGTTAGAGGAAGAACTGGAATGGGGCTTCTGACTGGGCCAGGAAGGGTTGGGGTGGGGGCTAGGTTTGGTGCTCACCACACTCCTCCACGTCAGGACTGCCCGACAGGCTCCCTGAGGCTAAGAGCTGTTCCTGCTCCACCTGAGAGGCACAGGGTTGAGTGTCATAGGGCAGAGTCACTCCTTAGGACTTCTCACTGCCCCTTCCCCAGTAGGCTTACTCTCTGGCGTGCCCGGCACAGGCTCTCCACAGGGCACTGGCTGCACAGTGGGCGCTGTGGGGTACACACTGTGGCCCCTAGCTCCATGGCTGCTTGGTTGAAATCTCCTGGCCGGGCTGGGTCCACCAGCTGCTGGGCTAGACCCCTAAAAGAAGGGAACACTGCTGTGAAGCAGAGCTCCTTTGCAGACACCCCTGAAGCACCCTTGTTACCCCAACATCCTACCAGAGCTGCTGGGAAACAAGGGTGCTGCTGGGATCAGCACCAATGGCTCGGACACGGCACAGCACCCGTGCTACGTTGCCATCCACCACACCGGTTGCCTGGCACAGAGGGGCCAAAGAGTTAGCCTGGGCTGGGAGGAAGGAGGCTGGGCACGCACAAAGTGGGGGTGGGCTGTGAGATCACCTGGCCAAAGGCGATAGAGGCAATGGCCCCAGCTGTGTAGCGCCCCACGCCAGGCAGGAGCTGCTGCAGGGTCTCTGCTGTACGTGGCATGTGGCCCCCTAGCTCCTCTACCACCTGATTGGAGTGCAAGACTCAAGATTATAAGACACCCAAGACTCCTGGGTTCCTACCCTCCTGCCATCCCCTTACCTTCCGAGCTCCCTCCTGCAGCCGCCGGCCACGAGAATAGTAGCCCAGGCCAGCCCAGAGTTGATTCACCTCCTGTGGGTAGGATCAGAGGTCAAAGAGATCACCCGTCAGTCCCTCTATTGTTCCTATTTCCCCTACCCTAGGGTGGCTCTCACCTCCAGGGAAGCACTGGCCAGGTCCTGCAGTGTAGGCCACTTCTATAGCCACAGGCAGGCAGAAAGAGACAAGGTCAAGGGTGAAGGTGGTAGAGGAAGCCTTCTCTACACCCACCCCAAAGTAGAGGCTCTCATCTGGGGTCTGACCCATGACCCTTCCCTTCCTCCCCTGGAGTCACCTGCATCCATCCGGTATAGTAGTTGATCACAGTGGCAACCTGGGTCTGCTGCAGCATGACCTCTGAGACCCACACTGGGGGAAAGGGGTTGGCATGAGGACACTGCTGACCTGCCCCTACCTGGCCCACAGCCCCCAGACCCAAGGGCCTCGAGGCAAAGTGGCCCTGCTCTCAGGAGATGTACTGACCAGCATATGCCCGCCTGTCCAGGTCCATCTCATCTTCTGCCTGTCAATGCAACCCCAGATGAGGAGTTAGGGTGGAGGGGGCTGGGTGCCTGCCTCCCACCCACTGTCCCTGCTCCTCGCCTGCCTACCCGTCTTCTCCATGGTAGGTCCCGTTTCTCTTGGTCGTACCAGCTTAGCAGGCTCCCTCGGAAGGCTGTGACTTCAGCTACGTCTCTGAATAGATGGTATGAGGAGACAGAGGCCTGCAATACCACCTCTTCCGGCTGCCTGGCCAGGCCTGCTGGGGCCCCAGGACACTCAGCAATCATCCCTGCACAGGCTGTGCATCAGGGTCTTGGGACACAGCAGCCTGTGGCAGTATGCTCCCACTTAGGGCTTCCCCCAACTAACCCCCTTAAGCTTTGGAGCTGGAGTCAGACCAGAGTTATGTAATTGTGTGTAGCTGTGGCTAAGTTTCTGGCCTTAATTTTCTCAGGGTGGTACTACTGGCTTGTCTCTGAGCCATAATGAAAACCTAATAGTTTTAGCCAGCTAGAATGTATACTGGTGCAGGACCTTCCTATTCACAAAACACTTTCAGGCTCATAAACTCATTTGGTCCCATGAAAGCCACATGAGGGAGGAAATGCTGAACTACTGCTCCATTTTACTGGTAAGAAAGCAGCCATTCAGAGCAATTGTCCCAATGTCACACAGCAATACAGTCAGAATTACACCCTCAGTGAGTCTCTTTTGTTTTGAGACAAGAGTCTGGCTCTGTTGCCCAGACTGAAATGCAGTTGCATTATCTTGACTCAGTGCAACTTCTGCCTTCCAGGCTCAAGCGATCCTGTCACCTCAGCTTCCCGAGTAGCTGGGACTACAGACGCTCACCACCACGCGAGCATAGAGAGGGGATTTCGCCATGTTACCCAAGCTGGTCTCAAACTCCTGGGCTCAAGGGATCCACCTGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACCGCACCTGGCCCTTAGTAAGTCTCTTAATGTCTTGATACGTATCACAATCCCTTCCCAGCCTGAATCTGCCTTTCATGGCCAATGAGCCTTGGGCCACAACCTAGTTCCTTACCATCACAGGCAGAAGGCTTGGCCTGACTGTTGTTCTTAGCATGCTTCTGCCTCCCTTCCTGGCTGGCTGCCTGCTTCCTGTGACCACTTCCCACGGCTGCTCGTGGCTTCCTCATGATGGCCTGAAACAAAAAGACCCAGCCAAAGCAGTCAGTCACAATGAGGCCAAATTTTGAGGCCTTCCAAGGGTGATAGCTATCTCCCTCTCATCCACCATTCACATGGGGTCCAGCTTCTCTCAAGCACTCTCAAGATGCTCACGGGTTTACTCTTGGCTGGCTGCAGCACTGAGATACAACTAGTATAGCTGAGCAAGTGGCCTCAAGGGGGCCGGCGTTACAGCCCTGGAGACATGCAAAGACTGTGAGGCCAGGGCTGGGATGGGTCAAGGATGAAAGCCTCCTGTTTGGGAGCATTTGTGTATCTCTGATGCTTACTGTGACTGTGTGTGTGGATAGGGGTTGTTTAGGTGTGTCTGGGAGAATGGGGGTAGGCGGTTTCTCTGCCTCTTAGAGATGTAGCATGGTTACACTGAAACAGCCTGTAGTAGTCATTAAGTCCAAAACCTTCATTTTATCCTAGAAGAAACCAAGGATCAGAGGGACAAAAGATCTGTCTGAGAACAGATGGCAAATCAGTGGGAGAACAGAGATTAGCTATTTTTATTCCTAATCTAGTAAACCATAGGTGGCTGACCATCAACAATGAGAAAATGTGCCTGGTTGATTTTCACTGCTCCCTAACTGTTATAATGGCCGCCTTTTCTCTAACAGCTAAAATTAGTTGATATTTTGTGAGTGCCTACTCTATGTCAGACCCCATGAAGAGCTTTACCGGATCTCTCAATCTCCTGGTGACTCTATGAGGTATGTACTAGTATCACCTCCACCTTAGTTATAAGGAAATTGAGGTTTATGGAGATTAAGCGACTTGTTCTTTCAAATCCA
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CACCTGGTGGTACGGTGGTCACTGGGGTCTGCCCTTCCAAGGCCAGCCCATATACTTGATATGTCAGCTTGATGTGAGAGAAGGTGTGGACAACCTGGAGGAAGGGTCAAGGGGTTCAAATAGGCCTGTGGATATAGCCTCAAAAGCCAACATCCTTGGCTATTCCGCTGCTCACTTACCTCCCCAAGGTGCCGGAGGTGCGTGGCTGGGAGGGGCCCAGCCCAACGCTGTAGTTCCTGCAGCAGGGCCTTGCGCTGAAGCTGCTCTGAGGGCTCCCAGGTCACGGACGGGAACTCCCACAGTCCTGCCAGCAGACCTGAGAGGGAGGGCAGCCAGGCAGGGGTCAGGCCTCAGCTGCCGATTCCCTCCATTCTCTCTTGTTACTCATGCCACTGCCCTCCACGCCCAGTATCCAGGTACCTGAGTTGGGCCTCTGCACCAGCAGAATTTGGGCCCCAAGGGCCCCAGGCTGTTCCAGAACACAGGTGGCAGAGCTCTCCTCCCTGGGGGGCTTGCGGCTGGCCTTTCTGGGGAAGTTGACCACTCCCAGGGTCTGGTCCCAGGGCTCCGAGGGAGGCAGGCACAGGTGGCACTGTCCAGTGTTGGGAGCTGGGAACGGAGATCCCCGAACCCTACTCAAGCCAAGAGGGCTTTAGGGGCCAACCTAGAGAGTGGGCTTTGGCCGGGTTCTGCAGAATCTTACTCAGGTTAGAGGAAGAACTGGAATGGGGCTTCTGACTGGGCCAGGAAGGGTTGGGGTGGGGGCTAGGTTTGGTGCTCACCACACTCCTCCACGTCAGGACTGCCCGACAGGCTCCCTGAGGCTAAGAGCTGTTCCTGCTCCACCTGAGAGGCACAGGGTTGAGTGTCATAGGGCAGAGTCACTCCTTAGGACTTCTCACTGCCCCTTCCCCAGTAGGCTTACTCTCTGGCGTGCCCGGCACAGGCTCTCCACAGGGCACTGGCTGCACAGTGGGCGCTGTGGGGTACACACTGTGGCCCCTAGCTCCATGGCTGCTTGGTTGAAATCTCCTGGCCGGGCTGGGTCCACCAGCTGCTGGGCTAGACCCCTAAAAGAAGGGAACACTGCTGTGAAGCAGAGCTCCTTTGCAGACACCCCTGAAGCACCCTTGTTACCCCAACATCCTACCAGAGCTGCTGGGAAACAAGGGTGCTGCTGGGATCAGCACCAATGGCTCGGACACGGCACAGCACCCGTGCTACGTTGCCATCCACCACACCGGTTGCCTGGCACAGAGGGGCCAAAGAGTTAGCCTGGGCTGGGAGGAAGGAGGCTGGGCACGCACAAAGTGGGGGTGGGCTGTGAGATCACCTGGCCAAAGGCGATAGAGGCAATGGCCCCAGCTGTGTAGCGCCCCACGCCAGGCAGGAGCTGCTGCAGGGTCTCTGCTGTACGTGGCATGTGGCCCCCTAGCTCCTCTACCACCTGATTGGAGTGCAAGACTCAAGATTATAAGACACCCAAGACTCCTGGGTTCCTACCCTCCTGCCATCCCCTTACCTTCCGAGCTCCCTCCTGCAGCCGCCGGCCACGAGAATAGTAGCCCAGGCCAGCCCAGAGTTGATTCACCTCCTGTGGGTAGGATCAGAGGTCAAAGAGATCACCCGTCAGTCCCTCTATTGTTCCTATTTCCCCTACCCTAGGGTGGCTCTCACCTCCAGGGAAGCACTGGCCAGGTCCTGCAGTGTAGGCCACTTCTATAGCCACAGGCAGGCAGAAAGAGACAAGGTCAAGGGTGAAGGTGGTAGAGGAAGCCTTCTCTACACCCACCCCAAAGTAGAGGCTCTCATCTGGGGTCTGACCCATGACCCTTCCCTTCCTCCCCTGGAGTCACCTGCATCCATCCGGTATAGTAGTTGATCACAGTGGCAACCTGGGTCTGCTGCAGCATGACCTCTGAGACCCACACTGGGGGAAAGGGGTTGGCATGAGGACACTGCTGACCTGCCCCTACCTGGCCCACAGCCCCCAGACCCAAGGGCCTCGAGGCAAAGTGGCCCTGCTCTCAGGAGATGTACTGACCAGCTTATGCCCGCCTGTCCAGGTCCATCTCATCTTCTGCCTGTCAATGCAACCCCAGATGAGGAGTTAGGGTGGAGGGGGCTGGGTGCCTGCCTCCCACCCACTGTCCCTGCTCCTCGCCTGCCTACCCGTCTTCTCCATGGTAGGTCCCGTTTCTCTTGGTCGTACCAGCTTAGCAGGCTCCCTCGGAAGGCTGTGACTTCAGCTACGTCTCTGAATAGATGGTATGAGGAGACAGAGGCCTGCAATACCACCTCTTCCGGCTGCCTGGCCAGGCCTGCTGGGGCCCCAGGACACTCAGCAATCATCCCTGCACAGGCTGTGCATCAGGGTCTTGGGACACAGCAGCCTGTGGCAGTATGCTCCCACTTAGGGCTTCCCCCAACTAACCCCCTTAAGCTTTGGAGCTGGAGTCAGACCAGAGTTATGTAATTGTGTGTAGCTGTGGCTAAGTTTCTGGCCTTAATTTTCTCAGGGTGGTACTACTGGCTTGTCTCTGAGCCATAATGAAAACCTAATAGTTTTAGCCAGCTAGAATGTATACTGGTGCAGGACCTTCCTATTCACAAAACACTTTCAGGCTCATAAACTCATTTGGTCCCATGAAAGCCACATGAGGGAGGAAATGCTGAACTACTGCTCCATTTTACTGGTAAGAAAGCAGCCATTCAGAGCAATTGTCCCAATGTCACACAGCAATACAGTCAGAATTACACCCTCAGTGAGTCTCTTTTGTTTTGAGACAAGAGTCTGGCTCTGTTGCCCAGACTGAAATGCAGTTGCATTATCTTGACTCAGTGCAACTTCTGCCTTCCAGGCTCAAGCGATCCTGTCACCTCAGCTTCCCGAGTAGCTGGGACTACAGACGCTCACCACCACGCGAGCATAGAGAGGGGATTTCGCCATGTTACCCAAGCTGGTCTCAAACTCCTGGGCTCAAGGGATCCACCTGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACCGCACCTGGCCCTTAGTAAGTCTCTTAATGTCTTGATACGTATCACAATCCCTTCCCAGCCTGAATCTGCCTTTCATGGCCAATGAGCCTTGGGCCACAACCTAGTTCCTTACCATCACAGGCAGAAGGCTTGGCCTGACTGTTGTTCTTAGCATGCTTCTGCCTCCCTTCCTGGCTGGCTGCCTGCTTCCTGTGACCACTTCCCACGGCTGCTCGTGGCTTCCTCATGATGGCCTGAAACAAAAAGACCCAGCCAAAGCAGTCAGTCACAATGAGGCCAAATTTTGAGGCCTTCCAAGGGTGATAGCTATCTCCCTCTCATCCACCATTCACATGGGGTCCAGCTTCTCTCAAGCACTCTCAAGATGCTCACGGGTTTACTCTTGGCTGGCTGCAGCACTGAGATACAACTAGTATAGCTGAGCAAGTGGCCTCAAGGGGGCCGGCGTTACAGCCCTGGAGACATGCAAAGACTGTGAGGCCAGGGCTGGGATGGGTCAAGGATGAAAGCCTCCTGTTTGGGAGCATTTGTGTATCTCTGATGCTTACTGTGACTGTGTGTGTGGATAGGGGTTGTTTAGGTGTGTCTGGGAGAATGGGGGTAGGCGGTTTCTCTGCCTCTTAGAGATGTAGCATGGTTACACTGAAACAGCCTGTAGTAGTCATTAAGTCCAAAACCTTCATTTTATCCTAGAAGAAACCAAGGATCAGAGGGACAAAAGATCTGTCTGAGAACAGATGGCAAATCAGTGGGAGAACAGAGATTAGCTATTTTTATTCCTAATCTAGTAAACCATAGGTGGCTGACCATCAACAATGAGAAAATGTGCCTGGTTGATTTTCACTGCTCCCTAACTGTTATAATGGCCGCCTTTTCTCTAACAGCTAAAATTAGTTGATATTTTGTGAGTGCCTACTCTATGTCAGACCCCATGAAGAGCTTTACCGGATCTCTCAATCTCCTGGTGACTCTATGAGGTATGTACTAGTATCACCTCCACCTTAGTTATAAGGAAATTGAGGTTTATGGAGATTAAGCGACTTGTTCTTTCAAATCCA
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Task1_train_869
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This mutation occurs in MUTYH (mutY DNA glycosylase) on Chromosome 1. Does this change lead to a known medical condition, or is it benign?
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Pathogenic; Hereditary cancer-predisposing syndrome
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CACCTGGTGGTACGGTGGTCACTGGGGTCTGCCCTTCCAAGGCCAGCCCATATACTTGATATGTCAGCTTGATGTGAGAGAAGGTGTGGACAACCTGGAGGAAGGGTCAAGGGGTTCAAATAGGCCTGTGGATATAGCCTCAAAAGCCAACATCCTTGGCTATTCCGCTGCTCACTTACCTCCCCAAGGTGCCGGAGGTGCGTGGCTGGGAGGGGCCCAGCCCAACGCTGTAGTTCCTGCAGCAGGGCCTTGCGCTGAAGCTGCTCTGAGGGCTCCCAGGTCACGGACGGGAACTCCCACAGTCCTGCCAGCAGACCTGAGAGGGAGGGCAGCCAGGCAGGGGTCAGGCCTCAGCTGCCGATTCCCTCCATTCTCTCTTGTTACTCATGCCACTGCCCTCCACGCCCAGTATCCAGGTACCTGAGTTGGGCCTCTGCACCAGCAGAATTTGGGCCCCAAGGGCCCCAGGCTGTTCCAGAACACAGGTGGCAGAGCTCTCCTCCCTGGGGGGCTTGCGGCTGGCCTTTCTGGGGAAGTTGACCACTCCCAGGGTCTGGTCCCAGGGCTCCGAGGGAGGCAGGCACAGGTGGCACTGTCCAGTGTTGGGAGCTGGGAACGGAGATCCCCGAACCCTACTCAAGCCAAGAGGGCTTTAGGGGCCAACCTAGAGAGTGGGCTTTGGCCGGGTTCTGCAGAATCTTACTCAGGTTAGAGGAAGAACTGGAATGGGGCTTCTGACTGGGCCAGGAAGGGTTGGGGTGGGGGCTAGGTTTGGTGCTCACCACACTCCTCCACGTCAGGACTGCCCGACAGGCTCCCTGAGGCTAAGAGCTGTTCCTGCTCCACCTGAGAGGCACAGGGTTGAGTGTCATAGGGCAGAGTCACTCCTTAGGACTTCTCACTGCCCCTTCCCCAGTAGGCTTACTCTCTGGCGTGCCCGGCACAGGCTCTCCACAGGGCACTGGCTGCACAGTGGGCGCTGTGGGGTACACACTGTGGCCCCTAGCTCCATGGCTGCTTGGTTGAAATCTCCTGGCCGGGCTGGGTCCACCAGCTGCTGGGCTAGACCCCTAAAAGAAGGGAACACTGCTGTGAAGCAGAGCTCCTTTGCAGACACCCCTGAAGCACCCTTGTTACCCCAACATCCTACCAGAGCTGCTGGGAAACAAGGGTGCTGCTGGGATCAGCACCAATGGCTCGGACACGGCACAGCACCCGTGCTACGTTGCCATCCACCACACCGGTTGCCTGGCACAGAGGGGCCAAAGAGTTAGCCTGGGCTGGGAGGAAGGAGGCTGGGCACGCACAAAGTGGGGGTGGGCTGTGAGATCACCTGGCCAAAGGCGATAGAGGCAATGGCCCCAGCTGTGTAGCGCCCCACGCCAGGCAGGAGCTGCTGCAGGGTCTCTGCTGTACGTGGCATGTGGCCCCCTAGCTCCTCTACCACCTGATTGGAGTGCAAGACTCAAGATTATAAGACACCCAAGACTCCTGGGTTCCTACCCTCCTGCCATCCCCTTACCTTCCGAGCTCCCTCCTGCAGCCGCCGGCCACGAGAATAGTAGCCCAGGCCAGCCCAGAGTTGATTCACCTCCTGTGGGTAGGATCAGAGGTCAAAGAGATCACCCGTCAGTCCCTCTATTGTTCCTATTTCCCCTACCCTAGGGTGGCTCTCACCTCCAGGGAAGCACTGGCCAGGTCCTGCAGTGTAGGCCACTTCTATAGCCACAGGCAGGCAGAAAGAGACAAGGTCAAGGGTGAAGGTGGTAGAGGAAGCCTTCTCTACACCCACCCCAAAGTAGAGGCTCTCATCTGGGGTCTGACCCATGACCCTTCCCTTCCTCCCCTGGAGTCACCTGCATCCATCCGGTATAGTAGTTGATCACAGTGGCAACCTGGGTCTGCTGCAGCATGACCTCTGAGACCCACACTGGGGGAAAGGGGTTGGCATGAGGACACTGCTGACCTGCCCCTACCTGGCCCACAGCCCCCAGACCCAAGGGCCTCGAGGCAAAGTGGCCCTGCTCTCAGGAGATGTACTGACCAGCATATGCCCGCCTGTCCAGGTCCATCTCATCTTCTGCCTGTCAATGCAACCCCAGATGAGGAGTTAGGGTGGAGGGGGCTGGGTGCCTGCCTCCCACCCACTGTCCCTGCTCCTCGCCTGCCTACCCGTCTTCTCCATGGTAGGTCCCGTTTCTCTTGGTCGTACCAGCTTAGCAGGCTCCCTCGGAAGGCTGTGACTTCAGCTACGTCTCTGAATAGATGGTATGAGGAGACAGAGGCCTGCAATACCACCTCTTCCGGCTGCCTGGCCAGGCCTGCTGGGGCCCCAGGACACTCAGCAATCATCCCTGCACAGGCTGTGCATCAGGGTCTTGGGACACAGCAGCCTGTGGCAGTATGCTCCCACTTAGGGCTTCCCCCAACTAACCCCCTTAAGCTTTGGAGCTGGAGTCAGACCAGAGTTATGTAATTGTGTGTAGCTGTGGCTAAGTTTCTGGCCTTAATTTTCTCAGGGTGGTACTACTGGCTTGTCTCTGAGCCATAATGAAAACCTAATAGTTTTAGCCAGCTAGAATGTATACTGGTGCAGGACCTTCCTATTCACAAAACACTTTCAGGCTCATAAACTCATTTGGTCCCATGAAAGCCACATGAGGGAGGAAATGCTGAACTACTGCTCCATTTTACTGGTAAGAAAGCAGCCATTCAGAGCAATTGTCCCAATGTCACACAGCAATACAGTCAGAATTACACCCTCAGTGAGTCTCTTTTGTTTTGAGACAAGAGTCTGGCTCTGTTGCCCAGACTGAAATGCAGTTGCATTATCTTGACTCAGTGCAACTTCTGCCTTCCAGGCTCAAGCGATCCTGTCACCTCAGCTTCCCGAGTAGCTGGGACTACAGACGCTCACCACCACGCGAGCATAGAGAGGGGATTTCGCCATGTTACCCAAGCTGGTCTCAAACTCCTGGGCTCAAGGGATCCACCTGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACCGCACCTGGCCCTTAGTAAGTCTCTTAATGTCTTGATACGTATCACAATCCCTTCCCAGCCTGAATCTGCCTTTCATGGCCAATGAGCCTTGGGCCACAACCTAGTTCCTTACCATCACAGGCAGAAGGCTTGGCCTGACTGTTGTTCTTAGCATGCTTCTGCCTCCCTTCCTGGCTGGCTGCCTGCTTCCTGTGACCACTTCCCACGGCTGCTCGTGGCTTCCTCATGATGGCCTGAAACAAAAAGACCCAGCCAAAGCAGTCAGTCACAATGAGGCCAAATTTTGAGGCCTTCCAAGGGTGATAGCTATCTCCCTCTCATCCACCATTCACATGGGGTCCAGCTTCTCTCAAGCACTCTCAAGATGCTCACGGGTTTACTCTTGGCTGGCTGCAGCACTGAGATACAACTAGTATAGCTGAGCAAGTGGCCTCAAGGGGGCCGGCGTTACAGCCCTGGAGACATGCAAAGACTGTGAGGCCAGGGCTGGGATGGGTCAAGGATGAAAGCCTCCTGTTTGGGAGCATTTGTGTATCTCTGATGCTTACTGTGACTGTGTGTGTGGATAGGGGTTGTTTAGGTGTGTCTGGGAGAATGGGGGTAGGCGGTTTCTCTGCCTCTTAGAGATGTAGCATGGTTACACTGAAACAGCCTGTAGTAGTCATTAAGTCCAAAACCTTCATTTTATCCTAGAAGAAACCAAGGATCAGAGGGACAAAAGATCTGTCTGAGAACAGATGGCAAATCAGTGGGAGAACAGAGATTAGCTATTTTTATTCCTAATCTAGTAAACCATAGGTGGCTGACCATCAACAATGAGAAAATGTGCCTGGTTGATTTTCACTGCTCCCTAACTGTTATAATGGCCGCCTTTTCTCTAACAGCTAAAATTAGTTGATATTTTGTGAGTGCCTACTCTATGTCAGACCCCATGAAGAGCTTTACCGGATCTCTCAATCTCCTGGTGACTCTATGAGGTATGTACTAGTATCACCTCCACCTTAGTTATAAGGAAATTGAGGTTTATGGAGATTAAGCGACTTGTTCTTTCAAATCCA
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CACCTGGTGGTACGGTGGTCACTGGGGTCTGCCCTTCCAAGGCCAGCCCATATACTTGATATGTCAGCTTGATGTGAGAGAAGGTGTGGACAACCTGGAGGAAGGGTCAAGGGGTTCAAATAGGCCTGTGGATATAGCCTCAAAAGCCAACATCCTTGGCTATTCCGCTGCTCACTTACCTCCCCAAGGTGCCGGAGGTGCGTGGCTGGGAGGGGCCCAGCCCAACGCTGTAGTTCCTGCAGCAGGGCCTTGCGCTGAAGCTGCTCTGAGGGCTCCCAGGTCACGGACGGGAACTCCCACAGTCCTGCCAGCAGACCTGAGAGGGAGGGCAGCCAGGCAGGGGTCAGGCCTCAGCTGCCGATTCCCTCCATTCTCTCTTGTTACTCATGCCACTGCCCTCCACGCCCAGTATCCAGGTACCTGAGTTGGGCCTCTGCACCAGCAGAATTTGGGCCCCAAGGGCCCCAGGCTGTTCCAGAACACAGGTGGCAGAGCTCTCCTCCCTGGGGGGCTTGCGGCTGGCCTTTCTGGGGAAGTTGACCACTCCCAGGGTCTGGTCCCAGGGCTCCGAGGGAGGCAGGCACAGGTGGCACTGTCCAGTGTTGGGAGCTGGGAACGGAGATCCCCGAACCCTACTCAAGCCAAGAGGGCTTTAGGGGCCAACCTAGAGAGTGGGCTTTGGCCGGGTTCTGCAGAATCTTACTCAGGTTAGAGGAAGAACTGGAATGGGGCTTCTGACTGGGCCAGGAAGGGTTGGGGTGGGGGCTAGGTTTGGTGCTCACCACACTCCTCCACGTCAGGACTGCCCGACAGGCTCCCTGAGGCTAAGAGCTGTTCCTGCTCCACCTGAGAGGCACAGGGTTGAGTGTCATAGGGCAGAGTCACTCCTTAGGACTTCTCACTGCCCCTTCCCCAGTAGGCTTACTCTCTGGCGTGCCCGGCACAGGCTCTCCACAGGGCACTGGCTGCACAGTGGGCGCTGTGGGGTACACACTGTGGCCCCTAGCTCCATGGCTGCTTGGTTGAAATCTCCTGGCCGGGCTGGGTCCACCAGCTGCTGGGCTAGACCCCTAAAAGAAGGGAACACTGCTGTGAAGCAGAGCTCCTTTGCAGACACCCCTGAAGCACCCTTGTTACCCCAACATCCTACCAGAGCTGCTGGGAAACAAGGGTGCTGCTGGGATCAGCACCAATGGCTCGGACACGGCACAGCACCCGTGCTACGTTGCCATCCACCACACCGGTTGCCTGGCACAGAGGGGCCAAAGAGTTAGCCTGGGCTGGGAGGAAGGAGGCTGGGCACGCACAAAGTGGGGGTGGGCTGTGAGATCACCTGGCCAAAGGCGATAGAGGCAATGGCCCCAGCTGTGTAGCGCCCCACGCCAGGCAGGAGCTGCTGCAGGGTCTCTGCTGTACGTGGCATGTGGCCCCCTAGCTCCTCTACCACCTGATTGGAGTGCAAGACTCAAGATTATAAGACACCCAAGACTCCTGGGTTCCTACCCTCCTGCCATCCCCTTACCTTCCGAGCTCCCTCCTGCAGCCGCCGGCCACGAGAATAGTAGCCCAGGCCAGCCCAGAGTTGATTCACCTCCTGTGGGTAGGATCAGAGGTCAAAGAGATCACCCGTCAGTCCCTCTATTGTTCCTATTTCCCCTACCCTAGGGTGGCTCTCACCTCCAGGGAAGCACTGGCCAGGTCCTGCAGTGTAGGCCACTTCTATAGCCACAGGCAGGCAGAAAGAGACAAGGTCAAGGGTGAAGGTGGTAGAGGAAGCCTTCTCTACACCCACCCCAAAGTAGAGGCTCTCATCTGGGGTCTGACCCATGACCCTTCCCTTCCTCCCCTGGAGTCACCTGCATCCATCCGGTATAGTAGTTGATCACAGTGGCAACCTGGGTCTGCTGCAGCATGACCTCTGAGACCCACACTGGGGGAAAGGGGTTGGCATGAGGACACTGCTGACCTGCCCCTACCTGGCCCACAGCCCCCAGACCCAAGGGCCTCGAGGCAAAGTGGCCCTGCTCTCAGGAGATGTACTGACCAGCTTATGCCCGCCTGTCCAGGTCCATCTCATCTTCTGCCTGTCAATGCAACCCCAGATGAGGAGTTAGGGTGGAGGGGGCTGGGTGCCTGCCTCCCACCCACTGTCCCTGCTCCTCGCCTGCCTACCCGTCTTCTCCATGGTAGGTCCCGTTTCTCTTGGTCGTACCAGCTTAGCAGGCTCCCTCGGAAGGCTGTGACTTCAGCTACGTCTCTGAATAGATGGTATGAGGAGACAGAGGCCTGCAATACCACCTCTTCCGGCTGCCTGGCCAGGCCTGCTGGGGCCCCAGGACACTCAGCAATCATCCCTGCACAGGCTGTGCATCAGGGTCTTGGGACACAGCAGCCTGTGGCAGTATGCTCCCACTTAGGGCTTCCCCCAACTAACCCCCTTAAGCTTTGGAGCTGGAGTCAGACCAGAGTTATGTAATTGTGTGTAGCTGTGGCTAAGTTTCTGGCCTTAATTTTCTCAGGGTGGTACTACTGGCTTGTCTCTGAGCCATAATGAAAACCTAATAGTTTTAGCCAGCTAGAATGTATACTGGTGCAGGACCTTCCTATTCACAAAACACTTTCAGGCTCATAAACTCATTTGGTCCCATGAAAGCCACATGAGGGAGGAAATGCTGAACTACTGCTCCATTTTACTGGTAAGAAAGCAGCCATTCAGAGCAATTGTCCCAATGTCACACAGCAATACAGTCAGAATTACACCCTCAGTGAGTCTCTTTTGTTTTGAGACAAGAGTCTGGCTCTGTTGCCCAGACTGAAATGCAGTTGCATTATCTTGACTCAGTGCAACTTCTGCCTTCCAGGCTCAAGCGATCCTGTCACCTCAGCTTCCCGAGTAGCTGGGACTACAGACGCTCACCACCACGCGAGCATAGAGAGGGGATTTCGCCATGTTACCCAAGCTGGTCTCAAACTCCTGGGCTCAAGGGATCCACCTGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACCGCACCTGGCCCTTAGTAAGTCTCTTAATGTCTTGATACGTATCACAATCCCTTCCCAGCCTGAATCTGCCTTTCATGGCCAATGAGCCTTGGGCCACAACCTAGTTCCTTACCATCACAGGCAGAAGGCTTGGCCTGACTGTTGTTCTTAGCATGCTTCTGCCTCCCTTCCTGGCTGGCTGCCTGCTTCCTGTGACCACTTCCCACGGCTGCTCGTGGCTTCCTCATGATGGCCTGAAACAAAAAGACCCAGCCAAAGCAGTCAGTCACAATGAGGCCAAATTTTGAGGCCTTCCAAGGGTGATAGCTATCTCCCTCTCATCCACCATTCACATGGGGTCCAGCTTCTCTCAAGCACTCTCAAGATGCTCACGGGTTTACTCTTGGCTGGCTGCAGCACTGAGATACAACTAGTATAGCTGAGCAAGTGGCCTCAAGGGGGCCGGCGTTACAGCCCTGGAGACATGCAAAGACTGTGAGGCCAGGGCTGGGATGGGTCAAGGATGAAAGCCTCCTGTTTGGGAGCATTTGTGTATCTCTGATGCTTACTGTGACTGTGTGTGTGGATAGGGGTTGTTTAGGTGTGTCTGGGAGAATGGGGGTAGGCGGTTTCTCTGCCTCTTAGAGATGTAGCATGGTTACACTGAAACAGCCTGTAGTAGTCATTAAGTCCAAAACCTTCATTTTATCCTAGAAGAAACCAAGGATCAGAGGGACAAAAGATCTGTCTGAGAACAGATGGCAAATCAGTGGGAGAACAGAGATTAGCTATTTTTATTCCTAATCTAGTAAACCATAGGTGGCTGACCATCAACAATGAGAAAATGTGCCTGGTTGATTTTCACTGCTCCCTAACTGTTATAATGGCCGCCTTTTCTCTAACAGCTAAAATTAGTTGATATTTTGTGAGTGCCTACTCTATGTCAGACCCCATGAAGAGCTTTACCGGATCTCTCAATCTCCTGGTGACTCTATGAGGTATGTACTAGTATCACCTCCACCTTAGTTATAAGGAAATTGAGGTTTATGGAGATTAAGCGACTTGTTCTTTCAAATCCA
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Task1_train_870
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This is a variant in TOE1 (target of EGR1, exonuclease), located on Chromosome 1. Is this mutation a likely cause of disease or not?
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Pathogenic; Pontocerebellar hypoplasia type 7
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GTCAGCAAAAGCACAACATCTGGGGAGGAGCTAGTAGTCCAGGTTCCCGTAGTGGATGTGCAAAGCAACAACTTCAAGGAGATGTGGCCATCCCTCCTGCTAGCCATAAAGACAGCTAATTTCGTGGCTGTGGACACGGTGAGAGTTGGGAAACAAGGAGGGCAGGTGGTTGTGAAGGGGCTGGTGCTAGAGGCCTGTCACAACTCTCCCTTTACCTACCCACAGGAGCTGAGTGGGCTTGGGGACAGGAAGAGTTTGCTGAACCAGTAAGTATAAGCCCTTTTCTCTTTAGTGCCAGCCCTCAACTGTGGAGTGGGGGGGTCACAGACCTGGGTGGTTTGGGTCCTTCATAAGGCTAACTCCTAGCCACAGCAACCCCCATACCCAACCCCAAGGTGCATTGAGGAACGTTACAAGGCCGTGTGTCATGCTGCCAGGACCCGTTCTATCCTTTCCCTGGGCCTCGCCTGCTTCAAGCGGCAGCCAGACAAGGTATGAGCTGATCTCACCCCAATCCTAGGTGTGGCTGTGGGGTGGAGGGTAGAGAGATTCTAGGGAACATCAGATAGGAAGCATTTCTCTCCCAAATCTTTTTTTTTGACTTGATAGTTTTTTTTTTTTTATTTGAATAGGTTTATGGGGAACAGGTGGTGTTTGGTTAAATGAGTAAGTTCTTTAGTGGCAATTTCTGAGATTTTGGTGCACCTATCACCCAGTGTACACTGTGCCCAATGCGTAGTCTTTTATCCCTCACCTGCCTCCATCCTTTCCCCCCTGAGTCCCCAGAGTCCATTGTATCATTCTTAAGCTTTTGCATCCTCCTAGCTTGGCTCTCTGAAATCTTGATATAGCAGACTTCTCTTTCTCCCAGGGTGAACATTCCTATCTGGCTCAAGTGTTCAATCTCACTCTGCTGTGCATGGAGGAGTATGTCATAGAACCAAAGTCTGTGCAGTTCCTGATACAGCATGGCTTCAACTTCAACCAGCAGTATGCCCAAGGCATCCCCTACCATAAGGGCAATGACAAGGTAGGCCTCTAGCCTCCCTAGCCTTGAGTCTGCCCTTTCTGTGACTTTATTTCTTCCTACCCTAGGCTGGATGTCTGGGGAGAATCTGCTTCTTAGGGAGTATGGGGAATCACTAGTGACAGGGCTTGGGAAACAAGACTGGTATGAGGAGGGTGGGCAGCATTGGGTAAGGTAGAGAGAGAGCGTTCCAAGTGGGGAAGTCTGGGATAAGTGCCCAGCAGAAGAGGCTCCCTGGGGGACTCTGTCCTCCTCATTGACCCCTTTACTTTCATCTAGGGTGATGAGAGCCAGAGCCAGTCAGTACGGACCCTATTCCTGGAGCTAATCCGAGCCCGCCGGCCCCTGGTGCTACACAATGGCCTTATAGACTTGGTGTTCCTGTACCAGAACTTCTATGCACACCTCCCTGAGAGTCTGGGAACCTTCACCGCTGACCTGTGTGAGATGTTCCCAGCAGGCATTTATGACACCAAATATGCTGCTGAGTTTCATGCCCGTTTCGTGGCCTCCTACTTAGAATATGCCTTCCGGAAATGGTGAGGAAATGGTTGAGGGAAAGGGGTGGGGCCTGATACGAGTTTATTTCATTCACTTAAGATATTTATTGAGCTCCTACCATGTGCCCAGGCAGTGTTTTAGGTGCTGAGGATTCAGCAGTGAACAAAACAGACCACAAAACCCTGCTCTTATGGAGCTTATATGCTAGTGGACCATTACCCTCTTGCGCTGTTGCAGTGAACGGGAAAATGGGAAGCAGCGGGCAGCTGGCAGCCCACACCTTACCCTGGAGTTCTGCAACTATCCTTCCAGCATGAGGGACCATATTGATTACCGCTGCTGCCTGCCCCCAGCAACCCACCGTCCTCATCCCACCAGCATCTGTGACAACTTCTCGGTGAGAGCACCCACCTGTTTCTTGGGAGGGAAGGTTCTGATGCCTGGAGCCTCTTTCTAAGCCTCTTTCCCACCCCTAGGCTTATGGCTGGTGCCCCCTGGGACCACAGTGTCCTCAGTCTCACGATATTGACCTTATCATTGACACTGATGAGGCTGCGGCAGAGGACAAGCGGCGACGGCGACGACGTAGGGAAAAACGGAAGAGGGCTTTATTGAACCTACCGGGGACACAGACCTCTGGGGAAGCTAAGGATGGTCCTCCCAAGAAGCAGGTCTGTGGGGATAGCATCAAGCCTGAAGAAACCGAGCAGGAGGTGGCTGCCGATGAAACTAGGAACCTGCCTCACTCCAAGCAAGGCAACAAAAATGACTTAGAGATGGGGATTAAGGCAGCAAGGCCTGAAATAGCTGATAGAGCTACCTCAGAAGTGCCAGGGAGCCAAGCCAGTCCTAACCCAGTGCCTGGGGATGGATTGCACCGGGCTGGTTTTGATGCCTTTATGACAGGTTATGTGATGGCCTATGTGGAAGTGAGCCAGGGACCGCAGCCCTGCAGCTCTGGACCCTGGCTCCCTGAATGCCACAATAAGGTATATTTGAGTGGCAAAGCTGTACCCCTCACAGTGGCCAAGAGCCAGTTCTCTCGTTCCTCCAAAGCCCACAATCAGAAGATGAAGCTCACTTGGGGCAGTAGCTGATGCAACTTCCACCTTGCTCTCAGGTGGAACAGAGGTATTTTGGGTCTCTCTAGCCTGAAATGTCATCCTCAACTGCTACTGAGTTTAGGGGAGGGGGAATGTCTTGACAGACATCACTGCATTGCCCTGGACCGCCTCCTTTATCCCAGTGTTTGAGGTACAAGTAAGAAGGCTGACCAGCACCTGTAACACTGACTTTATTTTTAAGTCTGAAAATGTCTTGGGAAAGTTTTACAAAAAAAAAAATCAACAGAAGCAAGTTATGAAAATATTTGACCAGCTTCATCTTTGGTTATTTCTTATTGCAGCTCTGTAAGGACAGACTGTTCCCAAAGCTCCAGCCATGGCAGGAAGGGAAGCAAATCAGTCCCTGTATAAACCATTTAACCAATTGAATGTATCACATGTTGATAAATACATAGAAGCAGGCCCTAGGGCCTACAAAACCAGCCCCACTCCCAACCACAAGGTTGAAAGTCTTATGGGGCAGAACATTAAGACTCCTTTATAAATATGAAAATAGATTAATCAACAGGAAAAGGTCTTTGAATAGGTTAGCTAAGAGCCATGACCACCACGCTGCCTTGCTGTCCCCTTGCATAGAAATGTAGTGACGTGGTCTGACCATGCAGTAAGTGCAAACAGCAATTACTCAAATGTCTTAGAATACTGGCAAGAAGCACCCCAATATTCAGGTCTGGGAAACAGCCATGACCATTACGGCCTCTTGATCAGCTCCATGTTCCACTCAGTAGCTTATATGCCCCAAGAAAAGGCAAGAGACAGACCTGGGGTGGGGAAAGAACCGGGGTAATAGCTGCCTGCCAGCTCAGCCTAGAACTAGACATCCTCTGGTCCTATCTGGGGAAGTACACTGGAGAGGGTCTGGTGGGAGGCAGACCTCCTTGCTGGATTTCAGAGGCTTGGTATCAGCTGTTGGCCCTAACTAGGAAGGCCTCTCACTGCTGCCTCCCGTCATACACAGCCAATGGGCACTGGGAGCCCAGAAGTTGAGCCTGGCTTGGCCTAGCCTGCCTGCTCTGTAGGCTCCAGGGAAGAATCAAGGCTGTGCACCTAGGGGGCCATATGGTTTCAGCTGAAGGTCCATCCCCAAGGTGAGGCAGGGACTAAACCCCCTCACCCATCCTGCTTTCCCTGGGTTTGCAGGCCTATGCCTGAGGTGGAGAAGGTGGCTGGAGTTGAGCCTGCTGGCCTTTCTTCTACCTCCATCTCCTCAGAAGCACCCGCAGGGCATGGACTGGTCCCCTGGGGCCTGGACCCAAAACCATTTTCTTCCTGGAGAATGGAGCAGTCCATAGCCTCATGGGCTTGAGCAGCTGGTAGGGCAGATGCCCGGAATGGTGGGATCTCTTTAACTCTGTACTTGAGACTACTTAGGCGTGGTGGGGGCCCATCAGATAGCGATTCTTCCCGGCCCACAAATGGACAAGCCTCTTGATGCAAGAACTCA
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GTCAGCAAAAGCACAACATCTGGGGAGGAGCTAGTAGTCCAGGTTCCCGTAGTGGATGTGCAAAGCAACAACTTCAAGGAGATGTGGCCATCCCTCCTGCTAGCCATAAAGACAGCTAATTTCGTGGCTGTGGACACGGTGAGAGTTGGGAAACAAGGAGGGCAGGTGGTTGTGAAGGGGCTGGTGCTAGAGGCCTGTCACAACTCTCCCTTTACCTACCCACAGGAGCTGAGTGGGCTTGGGGACAGGAAGAGTTTGCTGAACCAGTAAGTATAAGCCCTTTTCTCTTTAGTGCCAGCCCTCAACTGTGGAGTGGGGGGGTCACAGACCTGGGTGGTTTGGGTCCTTCATAAGGCTAACTCCTAGCCACAGCAACCCCCATACCCAACCCCAAGGTGCATTGAGGAACGTTACAAGGCCGTGTGTCATGCTGCCAGGACCCGTTCTATCCTTTCCCTGGGCCTCGCCTGCTTCAAGCGGCAGCCAGACAAGGTATGAGCTGATCTCACCCCAATCCTAGGTGTGGCTGTGGGGTGGAGGGTAGAGAGATTCTAGGGAACATCAGATAGGAAGCATTTCTCTCCCAAATCTTTTTTTTTGACTTGATAGTTTTTTTTTTTTTATTTGAATAGGTTTATGGGGAACAGGTGGTGTTTGGTTAAATGAGTAAGTTCTTTAGTGGCAATTTCTGAGATTTTGGTGCACCTATCACCCAGTGTACACTGTGCCCAATGCGTAGTCTTTTATCCCTCACCTGCCTCCATCCTTTCCCCCCTGAGTCCCCAGAGTCCATTGTATCATTCTTAAGCTTTTGCATCCTCCTAGCTTGGCTCTCTGAAATCTTGATATAGCAGACTTCTCTTTCTCCCAGGGTGAACATTCCTATCTGGCTCAAGTGTTCAATCTCACTCTGCTGTGCATGGAGGAGTATGTCATAGAACCAAAGTCTGTGCAGTTCCTGATACAGCATGGCTTCAACTTCAACCAGCAGTATGCCCAAGGCATCCCCTACCATAAGGGCAATGACAAGGTAGGCCTCTAGCCTCCCTAGCCTTGAGTCTGCCCTTTCTGTGACTTTATTTCTTCCTACCCTAGGCTGGATGTCTGGGGAGAATCTGCTTCTTAGGGAGTATGGGGAATCACTAGTGACAGGGCTTGGGAAACAAGACTGGTATGAGGAGGGTGGGCAGCATTGGGTAAGGTAGAGAGAGAGCGTTCCAAGTGGGGAAGTCTGGGATAAGTGCCCAGCAGAAGAGGCTCCCTGGGGGACTCTGTCCTCCTCATTGACCCCTTTACTTTCATCTAGGGTGATGAGAGCCAGAGCCAGTCAGTACGGACCCTATTCCTGGAGCTAATCCGAGCCCGCCGGCCCCTGGTGCTACACAATGGCCTTATAGACTTGGTGTTCCTGTACCAGAACTTCTATGCACACCTCCCTGAGAGTCTGGGAACCTTCACCGCTGACCTGTGTGAGATGTTCCCAGCAGGCATTTATGACACCAAATATGCTGCTGAGTTTCATGCCCGTTTCGTGGCCTCCTACTTAGAATATGCCTTCCGGAAATGGTGAGGAAATGGTTGAGGGAAAGGGGTGGGGCCTGATACGAGTTTATTTCATTCACTTAAGATATTTATTGAGCTCCTACCATGTGCCCAGGCAGTGTTTTAGGTGCTGAGGATTCAGCAGTGAACAAAACAGACCACAAAACCCTGCTCTTATGGAGCTTATATGCTAGTGGACCATTACCCTCTTGCGCTGTTGCAGTGAACGGGAAAATGGGAAGCAGCGGGCAGCTGGCAGCCCACACCTTACCCTGGAGTTCTGCAACTATCCTTCCAGCATGAGGGACCATATTGATTACCGCTGCTGCCTGCCCCCAGCAACCCACCGTCCTCATCCCACCAGCATCTGTGACAACTTCTCGGTGAGAGCACCCACCTGTTTCTTGGGAGGGAAGGTTCTGATGCCTGGAGCCTCTTTCTAAGCCTCTTTCCCACCCCTAGGCTTATGGCTGGTGCCCCCTGGGACCACAGTGTCCTCAGTCTCAAGATATTGACCTTATCATTGACACTGATGAGGCTGCGGCAGAGGACAAGCGGCGACGGCGACGACGTAGGGAAAAACGGAAGAGGGCTTTATTGAACCTACCGGGGACACAGACCTCTGGGGAAGCTAAGGATGGTCCTCCCAAGAAGCAGGTCTGTGGGGATAGCATCAAGCCTGAAGAAACCGAGCAGGAGGTGGCTGCCGATGAAACTAGGAACCTGCCTCACTCCAAGCAAGGCAACAAAAATGACTTAGAGATGGGGATTAAGGCAGCAAGGCCTGAAATAGCTGATAGAGCTACCTCAGAAGTGCCAGGGAGCCAAGCCAGTCCTAACCCAGTGCCTGGGGATGGATTGCACCGGGCTGGTTTTGATGCCTTTATGACAGGTTATGTGATGGCCTATGTGGAAGTGAGCCAGGGACCGCAGCCCTGCAGCTCTGGACCCTGGCTCCCTGAATGCCACAATAAGGTATATTTGAGTGGCAAAGCTGTACCCCTCACAGTGGCCAAGAGCCAGTTCTCTCGTTCCTCCAAAGCCCACAATCAGAAGATGAAGCTCACTTGGGGCAGTAGCTGATGCAACTTCCACCTTGCTCTCAGGTGGAACAGAGGTATTTTGGGTCTCTCTAGCCTGAAATGTCATCCTCAACTGCTACTGAGTTTAGGGGAGGGGGAATGTCTTGACAGACATCACTGCATTGCCCTGGACCGCCTCCTTTATCCCAGTGTTTGAGGTACAAGTAAGAAGGCTGACCAGCACCTGTAACACTGACTTTATTTTTAAGTCTGAAAATGTCTTGGGAAAGTTTTACAAAAAAAAAAATCAACAGAAGCAAGTTATGAAAATATTTGACCAGCTTCATCTTTGGTTATTTCTTATTGCAGCTCTGTAAGGACAGACTGTTCCCAAAGCTCCAGCCATGGCAGGAAGGGAAGCAAATCAGTCCCTGTATAAACCATTTAACCAATTGAATGTATCACATGTTGATAAATACATAGAAGCAGGCCCTAGGGCCTACAAAACCAGCCCCACTCCCAACCACAAGGTTGAAAGTCTTATGGGGCAGAACATTAAGACTCCTTTATAAATATGAAAATAGATTAATCAACAGGAAAAGGTCTTTGAATAGGTTAGCTAAGAGCCATGACCACCACGCTGCCTTGCTGTCCCCTTGCATAGAAATGTAGTGACGTGGTCTGACCATGCAGTAAGTGCAAACAGCAATTACTCAAATGTCTTAGAATACTGGCAAGAAGCACCCCAATATTCAGGTCTGGGAAACAGCCATGACCATTACGGCCTCTTGATCAGCTCCATGTTCCACTCAGTAGCTTATATGCCCCAAGAAAAGGCAAGAGACAGACCTGGGGTGGGGAAAGAACCGGGGTAATAGCTGCCTGCCAGCTCAGCCTAGAACTAGACATCCTCTGGTCCTATCTGGGGAAGTACACTGGAGAGGGTCTGGTGGGAGGCAGACCTCCTTGCTGGATTTCAGAGGCTTGGTATCAGCTGTTGGCCCTAACTAGGAAGGCCTCTCACTGCTGCCTCCCGTCATACACAGCCAATGGGCACTGGGAGCCCAGAAGTTGAGCCTGGCTTGGCCTAGCCTGCCTGCTCTGTAGGCTCCAGGGAAGAATCAAGGCTGTGCACCTAGGGGGCCATATGGTTTCAGCTGAAGGTCCATCCCCAAGGTGAGGCAGGGACTAAACCCCCTCACCCATCCTGCTTTCCCTGGGTTTGCAGGCCTATGCCTGAGGTGGAGAAGGTGGCTGGAGTTGAGCCTGCTGGCCTTTCTTCTACCTCCATCTCCTCAGAAGCACCCGCAGGGCATGGACTGGTCCCCTGGGGCCTGGACCCAAAACCATTTTCTTCCTGGAGAATGGAGCAGTCCATAGCCTCATGGGCTTGAGCAGCTGGTAGGGCAGATGCCCGGAATGGTGGGATCTCTTTAACTCTGTACTTGAGACTACTTAGGCGTGGTGGGGGCCCATCAGATAGCGATTCTTCCCGGCCCACAAATGGACAAGCCTCTTGATGCAAGAACTCA
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Task1_train_871
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This is a variant in MMACHC (metabolism of cobalamin associated C), located on Chromosome 1. Is this mutation a likely cause of disease or not?
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Pathogenic; Cobalamin C disease
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TTGTTCACTTGTTTATCTGCTGACCTTCCCTCCACTATTGTCCTATGACCCTGCCAAATCCCCCTCTGTGAGAAACACCCAAGAATGATCAATAAAAGAAAAACAAACCCAAAAAAAAAAAAAAAAAAAAAGAAGGCAAGGTCTTGACTATCCCTTACTCAGTCTGCAGCTCCTGAGGAAGGCCATTGGTAGTACTGCATTCTCCTGGTCCTGTTTGCATCTGGGCTTGGGCTTGGGCTTGGGTTTGCTCCCACACCTGGCTCTGAAGGCCCTGCAGTTCCTTTCTCAGCTCCTCCAGGCATTGCTCCAGGAGAAAAGCACTCCCCTTTGGGGCCCCCTGCAGCAACCTTAGTGATGCTGTAGTGGGACAAGTTAGGGATCATCCTCTCTAAGAGTTTCACAAGACCCTAGATACTCTACTTGCAAAACAAGACACATGTGCACACACAACAGGTGTGTGGCAAAATTGTGTGCATACATATGAAGCTGTGTATATGAAGAAAATAACTGGCCAGATACCTTCCAGGACACTGATCTGGTACTTCTGCTGCTCTCGCTCTTCTAGCAGGCCCTGCACTGCCTGCCTTAGTGCCTGTCACCTCCCCAGGCAGAAAAAAGCACATGAACTACTGTATAACAGCTTTTCCCGACCCCTAGTATCCTCATCTTACACAAACATCACATATACACACCAAGGATTCCAAGCCTCACCTGAGCCTGACATTGAAATTAGGATCAGAGAATAGCAACCTCACCCCAGAGAGAGGATGGGCTCTAGGACTCAGGGCAGCTCAGCCTTTGTGGAACTATGGGAGTCTCTAAAGCCCAAGGCTGTTGAGCTTGGACTCCTGACTGCAGAGGCAAGTGATGAGAGGAAATCCAGGTCCCAGCCAGGTCCCCGGCTGAGGAAATAAGGAAGGGTTAAGTGCAGGGTCTGTGTGGGGAAACAGAGTTCAGGAAAGGACAGAGTTGGAATTTGGAAGGAATAATGGATGATACGGGCACTGGAGGAAGGCACAGAAAGAGAAAGGGCTTGGAAGTAGAAAGAGACATTACTTACCTGCGGTGGAGACCCCAAGAAGATACAGCCACTGCTACAGAAGAAACAGATGCACAGGCCAATGAGCTCTGTGGAGACCCCAAGAGGATACAGCCACTGCTACAAAAGAAACAGATGCACAGGCCAATGAACTCTGAGAGTCCCTTAGCCTCCCCACGCAAACTGGGGACCTCCACCAACCCCTCACCTTATTCCGGACCACATTTCCATCAGTAGCGTTGAGAAGCACATCCAGCTGCTCAAACCAGCTGAGGCTCGTATTCATATCCTGTGGCAGGGGAGCGGCAGGGGTCTGGCTCCCTGGTGTCTTGTGCTTGCTCTCCTAGCGGGGGATACCCAAGGTATCCCCAGGAAAGGCCACCACGTTAGATGGAAAGAGGGAAGTGGGGATGCAACACTGGGGTAGGTGGATGCACTATCAGACCAAAACTGCGATCCTGTGACTAGGGAAAGGAAGGACGCTCTTGGGGAACTGGGGGAAAAGCGGGATACCGTGATGATACGCAGATATCAGGTGGGGATTGAAGGTGCCAGAACCTGGTTGAGACCTCCCCAGAAGTAGTACACTGGCGCCACCACGCCAAACCTGTGCCAGTGACAACTGCCGCCGCCGGGTTCAAAACTTCGGGTTGGTTTTGAAAGTCCGACTTTGGACTGGCTGCCGCAGCGCCACCTGGGAAACTGAGGTCGCCTCTTGCGAACACAACCGGCGATGGAGGCGGTGGAACTACCTTTCTCTAGAAGAGACACGTACATGCACACCCCCACCGTGTAGCTTGCCGGGAAACTGAGTCTTCCTGATTTCGTGTGGCTGTCTCCAAGGAGGAAACGAACTACGCATCCCAAGATGCATCGCGCATAGGCAATATGGTCCCGCTACTGGACCCATTTCCTACCTGGGAAATGGAGTCGAAGCTGACTCAAAACGTAACGGCCCAATTGTCCTTGAGACTTCATTCCCCAGCAAGCTCAGCGTGTAACGTGCGCTATGGAGCCGAAAGTCGCAGAGCTGAAGCAGAAGATCGAGGACACGCTATGTCCTTTTGGCTTCGAGGTTTACCCCTTCCAGGTTAGTTTATCCCTCCTGCTGTTCTAGGGCGAAATATATGATTGGCTTCGTTGCAACTGGCGTGAGGCCTCGGGAGCCTCTGATCCTCCTGGGTTCCTGCAGCCCAGTGTCCATGTGACAACAGGGACAGAGTTTCAGTGGGGGCTTGGGTTAAAAAGGTAGTGGTCGAGGCCGGGCATGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACCTGAGGTGAGGAGTTCGAGACCAGCCTGGCCAACATGGTGAAACCCCATCTCTACTAAAAATATAAAATTAGCCGGGCGTGGTGGTGCATGCCTGTAATCCCAGCTACTCGGGAGGCTGAGGCAGGACAATTGCTTGAACCCATGAGACGGAGGTTGCAGTGAGCCGAGATTGCGCCATTGCAGTCCAGCCTGAGCAACAAAGAGCGAAACTCCGTGTCAAAAAAAAAAAAAAAAAAAAAAGTTGTCGCATGTTTAACCTTTTGCCACCATATAATGCCGGATTCGTTAACGGGAGACACCATATGACCTGTAGCGTGTGTGGCTCAGATTGTCACCTATATAATTTACAAGAAGAAAGGGACCTGTGAGGCAAAGTCACCTTGGAACTTCCTAAAGGATTTAGGAGAGGGCAAAGCCTAGAAGGTTTGCATAGCTATCATTTAGGTCAGCTGAGGAAGGAAGGGCATTCCTGGTGATGAACAGGCAAACAATTGGCTGGTTTGTTCCCTCTACCAACAGAAGGATAATTCATGATATTTCCAGTCATCAGTGCTGGGCTGGGTAATGAAACTTTGTACACTTGCCTGGCACAGCAGTCTCAGCACCGCACCCCGACCCCCATTTACACGGTTACATTTCCCCACATCAGTGCCCTGTGCACTGAGCAGTTAAGTTACAAAGCTAAATCAGCTCAGCTTGAGCCCTTTGCCTGATGCTTAAGAGACTACCCACTTCCCATTCCTTCTGCTGAGTGGCTCACAGCAGTCCTGGGAGAGGATATAGAGGGAGAAGTAGGTTGGGTCTAGCTTGAGACTGGTCTTGCCAGAAAAAATGGAATTGAGCTATATATGAAAAGATAGATTGGAAGGAAGGAGGGTTATGTACATCCCAAATATCAGAAAAAGCTTGAGTAAAGGTGTGGAGATAGTGGTGTGGTGTTACCAAGTAAAAGGGCTTGATGCCTGATGTGCTGGAAGCTAATATTATGACACTGGGTTTTTGAGAAAACAAAAGCTATTTGTTGCAGATCGACCTTTAACTCTTTGAGACACCGTTTCAGTGGATGGCAGGTGTGTGGGAGAGTGAGAATGCCTATCTGGCAAGTTGAGTAGACCTGGGTATTAGGAGCTTTTGTACTGAACAAAGCCAACTGCAGCCCTGCCAGTCACCCTAGGCTCCTACCTCTCACCTCCCTACCCCCACATCCAATCAGCCACCAAGACCTATAAGACTGTCTACTGAATCTCCCAAATCCATTCCCTTGTATTCCACCCATCTATGCTGTGGTCCAGGCCACCATTTCTCACTTGGATTACTGTAATAACCTCCTTGCTGTAATTTTACCTCCAGTCCCTCCTCCACACTGCAGCCAGTGTGATCTAAAAATGATCATGCTAGTTTACTCCTTAAATCTTCAGTGGCTCTTCACTGTCACCAAATTAAATCCATATTCCTTAAATTGGTATTCAAAGCCAATCAAAATCTCACTCCTATTGATCTCTCCAGCCTTCTCTCCCTCTGATTCCCTCTACAGACCCTTCACTTCCACCAAACTAGACAATTCTCAAATATACCCAGGAATTTTCTGCCAGTGTGTTTGCTTATGCTGTGACTTGTTTATTTTATTCTTTATTTATTTAGAGACAAAGTCTCACTCTGTCCTCCCGGCCGGAGTGCAGTGGTGCAATCATAGCTCACTGCAGCCTCAAACTCCTGGGCTCAAGTGATCCTCC
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TTGTTCACTTGTTTATCTGCTGACCTTCCCTCCACTATTGTCCTATGACCCTGCCAAATCCCCCTCTGTGAGAAACACCCAAGAATGATCAATAAAAGAAAAACAAACCCAAAAAAAAAAAAAAAAAAAAAGAAGGCAAGGTCTTGACTATCCCTTACTCAGTCTGCAGCTCCTGAGGAAGGCCATTGGTAGTACTGCATTCTCCTGGTCCTGTTTGCATCTGGGCTTGGGCTTGGGCTTGGGTTTGCTCCCACACCTGGCTCTGAAGGCCCTGCAGTTCCTTTCTCAGCTCCTCCAGGCATTGCTCCAGGAGAAAAGCACTCCCCTTTGGGGCCCCCTGCAGCAACCTTAGTGATGCTGTAGTGGGACAAGTTAGGGATCATCCTCTCTAAGAGTTTCACAAGACCCTAGATACTCTACTTGCAAAACAAGACACATGTGCACACACAACAGGTGTGTGGCAAAATTGTGTGCATACATATGAAGCTGTGTATATGAAGAAAATAACTGGCCAGATACCTTCCAGGACACTGATCTGGTACTTCTGCTGCTCTCGCTCTTCTAGCAGGCCCTGCACTGCCTGCCTTAGTGCCTGTCACCTCCCCAGGCAGAAAAAAGCACATGAACTACTGTATAACAGCTTTTCCCGACCCCTAGTATCCTCATCTTACACAAACATCACATATACACACCAAGGATTCCAAGCCTCACCTGAGCCTGACATTGAAATTAGGATCAGAGAATAGCAACCTCACCCCAGAGAGAGGATGGGCTCTAGGACTCAGGGCAGCTCAGCCTTTGTGGAACTATGGGAGTCTCTAAAGCCCAAGGCTGTTGAGCTTGGACTCCTGACTGCAGAGGCAAGTGATGAGAGGAAATCCAGGTCCCAGCCAGGTCCCCGGCTGAGGAAATAAGGAAGGGTTAAGTGCAGGGTCTGTGTGGGGAAACAGAGTTCAGGAAAGGACAGAGTTGGAATTTGGAAGGAATAATGGATGATACGGGCACTGGAGGAAGGCACAGAAAGAGAAAGGGCTTGGAAGTAGAAAGAGACATTACTTACCTGCGGTGGAGACCCCAAGAAGATACAGCCACTGCTACAGAAGAAACAGATGCACAGGCCAATGAGCTCTGTGGAGACCCCAAGAGGATACAGCCACTGCTACAAAAGAAACAGATGCACAGGCCAATGAACTCTGAGAGTCCCTTAGCCTCCCCACGCAAACTGGGGACCTCCACCAACCCCTCACCTTATTCCGGACCACATTTCCATCAGTAGCGTTGAGAAGCACATCCAGCTGCTCAAACCAGCTGAGGCTCGTATTCATATCCTGTGGCAGGGGAGCGGCAGGGGTCTGGCTCCCTGGTGTCTTGTGCTTGCTCTCCTAGCGGGGGATACCCAAGGTATCCCCAGGAAAGGCCACCACGTTAGATGGAAAGAGGGAAGTGGGGATGCAACACTGGGGTAGGTGGATGCACTATCAGACCAAAACTGCGATCCTGTGACTAGGGAAAGGAAGGACGCTCTTGGGGAACTGGGGGAAAAGCGGGATACCGTGATGATACGCAGATATCAGGTGGGGATTGAAGGTGCCAGAACCTGGTTGAGACCTCCCCAGAAGTAGTACACTGGCGCCACCACGCCAAACCTGTGCCAGTGACAACTGCCGCCGCCGGGTTCAAAACTTCGGGTTGGTTTTGAAAGTCCGACTTTGGACTGGCTGCCGCAGCGCCACCTGGGAAACTGAGGTCGCCTCTTGCGAACACAACCGGCGATGGAGGCGGTGGAACTACCTTTCTCTAGAAGAGACACGTACATGCACACCCCCACCGTGTAGCTTGCCGGGAAACTGAGTCTTCCTGATTTCGTGTGGCTGTCTCCAAGGAGGAAACGAACTACGCATCCCAAGATGCATCGCGCATAGGCAATATGGTCCCGCTACTGGACCCATTTCCTACCTGGGAAATGGAGTCGAAGCTGACTCAAAACGTAACGGCCCAATTGTCCTTGAGACTTCATTCCCCAGCAAGCTCAGCGTGTAACGTGCGCTGTGGAGCCGAAAGTCGCAGAGCTGAAGCAGAAGATCGAGGACACGCTATGTCCTTTTGGCTTCGAGGTTTACCCCTTCCAGGTTAGTTTATCCCTCCTGCTGTTCTAGGGCGAAATATATGATTGGCTTCGTTGCAACTGGCGTGAGGCCTCGGGAGCCTCTGATCCTCCTGGGTTCCTGCAGCCCAGTGTCCATGTGACAACAGGGACAGAGTTTCAGTGGGGGCTTGGGTTAAAAAGGTAGTGGTCGAGGCCGGGCATGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACCTGAGGTGAGGAGTTCGAGACCAGCCTGGCCAACATGGTGAAACCCCATCTCTACTAAAAATATAAAATTAGCCGGGCGTGGTGGTGCATGCCTGTAATCCCAGCTACTCGGGAGGCTGAGGCAGGACAATTGCTTGAACCCATGAGACGGAGGTTGCAGTGAGCCGAGATTGCGCCATTGCAGTCCAGCCTGAGCAACAAAGAGCGAAACTCCGTGTCAAAAAAAAAAAAAAAAAAAAAAGTTGTCGCATGTTTAACCTTTTGCCACCATATAATGCCGGATTCGTTAACGGGAGACACCATATGACCTGTAGCGTGTGTGGCTCAGATTGTCACCTATATAATTTACAAGAAGAAAGGGACCTGTGAGGCAAAGTCACCTTGGAACTTCCTAAAGGATTTAGGAGAGGGCAAAGCCTAGAAGGTTTGCATAGCTATCATTTAGGTCAGCTGAGGAAGGAAGGGCATTCCTGGTGATGAACAGGCAAACAATTGGCTGGTTTGTTCCCTCTACCAACAGAAGGATAATTCATGATATTTCCAGTCATCAGTGCTGGGCTGGGTAATGAAACTTTGTACACTTGCCTGGCACAGCAGTCTCAGCACCGCACCCCGACCCCCATTTACACGGTTACATTTCCCCACATCAGTGCCCTGTGCACTGAGCAGTTAAGTTACAAAGCTAAATCAGCTCAGCTTGAGCCCTTTGCCTGATGCTTAAGAGACTACCCACTTCCCATTCCTTCTGCTGAGTGGCTCACAGCAGTCCTGGGAGAGGATATAGAGGGAGAAGTAGGTTGGGTCTAGCTTGAGACTGGTCTTGCCAGAAAAAATGGAATTGAGCTATATATGAAAAGATAGATTGGAAGGAAGGAGGGTTATGTACATCCCAAATATCAGAAAAAGCTTGAGTAAAGGTGTGGAGATAGTGGTGTGGTGTTACCAAGTAAAAGGGCTTGATGCCTGATGTGCTGGAAGCTAATATTATGACACTGGGTTTTTGAGAAAACAAAAGCTATTTGTTGCAGATCGACCTTTAACTCTTTGAGACACCGTTTCAGTGGATGGCAGGTGTGTGGGAGAGTGAGAATGCCTATCTGGCAAGTTGAGTAGACCTGGGTATTAGGAGCTTTTGTACTGAACAAAGCCAACTGCAGCCCTGCCAGTCACCCTAGGCTCCTACCTCTCACCTCCCTACCCCCACATCCAATCAGCCACCAAGACCTATAAGACTGTCTACTGAATCTCCCAAATCCATTCCCTTGTATTCCACCCATCTATGCTGTGGTCCAGGCCACCATTTCTCACTTGGATTACTGTAATAACCTCCTTGCTGTAATTTTACCTCCAGTCCCTCCTCCACACTGCAGCCAGTGTGATCTAAAAATGATCATGCTAGTTTACTCCTTAAATCTTCAGTGGCTCTTCACTGTCACCAAATTAAATCCATATTCCTTAAATTGGTATTCAAAGCCAATCAAAATCTCACTCCTATTGATCTCTCCAGCCTTCTCTCCCTCTGATTCCCTCTACAGACCCTTCACTTCCACCAAACTAGACAATTCTCAAATATACCCAGGAATTTTCTGCCAGTGTGTTTGCTTATGCTGTGACTTGTTTATTTTATTCTTTATTTATTTAGAGACAAAGTCTCACTCTGTCCTCCCGGCCGGAGTGCAGTGGTGCAATCATAGCTCACTGCAGCCTCAAACTCCTGGGCTCAAGTGATCCTCC
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Task1_train_872
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Given this variant in gene MMACHC (metabolism of cobalamin associated C) on Chromosome 1, classify it as benign or pathogenic. Include the disorder it may cause if applicable.
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Pathogenic; Cobalamin C disease
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GTTCACTTGTTTATCTGCTGACCTTCCCTCCACTATTGTCCTATGACCCTGCCAAATCCCCCTCTGTGAGAAACACCCAAGAATGATCAATAAAAGAAAAACAAACCCAAAAAAAAAAAAAAAAAAAAAGAAGGCAAGGTCTTGACTATCCCTTACTCAGTCTGCAGCTCCTGAGGAAGGCCATTGGTAGTACTGCATTCTCCTGGTCCTGTTTGCATCTGGGCTTGGGCTTGGGCTTGGGTTTGCTCCCACACCTGGCTCTGAAGGCCCTGCAGTTCCTTTCTCAGCTCCTCCAGGCATTGCTCCAGGAGAAAAGCACTCCCCTTTGGGGCCCCCTGCAGCAACCTTAGTGATGCTGTAGTGGGACAAGTTAGGGATCATCCTCTCTAAGAGTTTCACAAGACCCTAGATACTCTACTTGCAAAACAAGACACATGTGCACACACAACAGGTGTGTGGCAAAATTGTGTGCATACATATGAAGCTGTGTATATGAAGAAAATAACTGGCCAGATACCTTCCAGGACACTGATCTGGTACTTCTGCTGCTCTCGCTCTTCTAGCAGGCCCTGCACTGCCTGCCTTAGTGCCTGTCACCTCCCCAGGCAGAAAAAAGCACATGAACTACTGTATAACAGCTTTTCCCGACCCCTAGTATCCTCATCTTACACAAACATCACATATACACACCAAGGATTCCAAGCCTCACCTGAGCCTGACATTGAAATTAGGATCAGAGAATAGCAACCTCACCCCAGAGAGAGGATGGGCTCTAGGACTCAGGGCAGCTCAGCCTTTGTGGAACTATGGGAGTCTCTAAAGCCCAAGGCTGTTGAGCTTGGACTCCTGACTGCAGAGGCAAGTGATGAGAGGAAATCCAGGTCCCAGCCAGGTCCCCGGCTGAGGAAATAAGGAAGGGTTAAGTGCAGGGTCTGTGTGGGGAAACAGAGTTCAGGAAAGGACAGAGTTGGAATTTGGAAGGAATAATGGATGATACGGGCACTGGAGGAAGGCACAGAAAGAGAAAGGGCTTGGAAGTAGAAAGAGACATTACTTACCTGCGGTGGAGACCCCAAGAAGATACAGCCACTGCTACAGAAGAAACAGATGCACAGGCCAATGAGCTCTGTGGAGACCCCAAGAGGATACAGCCACTGCTACAAAAGAAACAGATGCACAGGCCAATGAACTCTGAGAGTCCCTTAGCCTCCCCACGCAAACTGGGGACCTCCACCAACCCCTCACCTTATTCCGGACCACATTTCCATCAGTAGCGTTGAGAAGCACATCCAGCTGCTCAAACCAGCTGAGGCTCGTATTCATATCCTGTGGCAGGGGAGCGGCAGGGGTCTGGCTCCCTGGTGTCTTGTGCTTGCTCTCCTAGCGGGGGATACCCAAGGTATCCCCAGGAAAGGCCACCACGTTAGATGGAAAGAGGGAAGTGGGGATGCAACACTGGGGTAGGTGGATGCACTATCAGACCAAAACTGCGATCCTGTGACTAGGGAAAGGAAGGACGCTCTTGGGGAACTGGGGGAAAAGCGGGATACCGTGATGATACGCAGATATCAGGTGGGGATTGAAGGTGCCAGAACCTGGTTGAGACCTCCCCAGAAGTAGTACACTGGCGCCACCACGCCAAACCTGTGCCAGTGACAACTGCCGCCGCCGGGTTCAAAACTTCGGGTTGGTTTTGAAAGTCCGACTTTGGACTGGCTGCCGCAGCGCCACCTGGGAAACTGAGGTCGCCTCTTGCGAACACAACCGGCGATGGAGGCGGTGGAACTACCTTTCTCTAGAAGAGACACGTACATGCACACCCCCACCGTGTAGCTTGCCGGGAAACTGAGTCTTCCTGATTTCGTGTGGCTGTCTCCAAGGAGGAAACGAACTACGCATCCCAAGATGCATCGCGCATAGGCAATATGGTCCCGCTACTGGACCCATTTCCTACCTGGGAAATGGAGTCGAAGCTGACTCAAAACGTAACGGCCCAATTGTCCTTGAGACTTCATTCCCCAGCAAGCTCAGCGTGTAACGTGCGCTATGGAGCCGAAAGTCGCAGAGCTGAAGCAGAAGATCGAGGACACGCTATGTCCTTTTGGCTTCGAGGTTTACCCCTTCCAGGTTAGTTTATCCCTCCTGCTGTTCTAGGGCGAAATATATGATTGGCTTCGTTGCAACTGGCGTGAGGCCTCGGGAGCCTCTGATCCTCCTGGGTTCCTGCAGCCCAGTGTCCATGTGACAACAGGGACAGAGTTTCAGTGGGGGCTTGGGTTAAAAAGGTAGTGGTCGAGGCCGGGCATGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACCTGAGGTGAGGAGTTCGAGACCAGCCTGGCCAACATGGTGAAACCCCATCTCTACTAAAAATATAAAATTAGCCGGGCGTGGTGGTGCATGCCTGTAATCCCAGCTACTCGGGAGGCTGAGGCAGGACAATTGCTTGAACCCATGAGACGGAGGTTGCAGTGAGCCGAGATTGCGCCATTGCAGTCCAGCCTGAGCAACAAAGAGCGAAACTCCGTGTCAAAAAAAAAAAAAAAAAAAAAAGTTGTCGCATGTTTAACCTTTTGCCACCATATAATGCCGGATTCGTTAACGGGAGACACCATATGACCTGTAGCGTGTGTGGCTCAGATTGTCACCTATATAATTTACAAGAAGAAAGGGACCTGTGAGGCAAAGTCACCTTGGAACTTCCTAAAGGATTTAGGAGAGGGCAAAGCCTAGAAGGTTTGCATAGCTATCATTTAGGTCAGCTGAGGAAGGAAGGGCATTCCTGGTGATGAACAGGCAAACAATTGGCTGGTTTGTTCCCTCTACCAACAGAAGGATAATTCATGATATTTCCAGTCATCAGTGCTGGGCTGGGTAATGAAACTTTGTACACTTGCCTGGCACAGCAGTCTCAGCACCGCACCCCGACCCCCATTTACACGGTTACATTTCCCCACATCAGTGCCCTGTGCACTGAGCAGTTAAGTTACAAAGCTAAATCAGCTCAGCTTGAGCCCTTTGCCTGATGCTTAAGAGACTACCCACTTCCCATTCCTTCTGCTGAGTGGCTCACAGCAGTCCTGGGAGAGGATATAGAGGGAGAAGTAGGTTGGGTCTAGCTTGAGACTGGTCTTGCCAGAAAAAATGGAATTGAGCTATATATGAAAAGATAGATTGGAAGGAAGGAGGGTTATGTACATCCCAAATATCAGAAAAAGCTTGAGTAAAGGTGTGGAGATAGTGGTGTGGTGTTACCAAGTAAAAGGGCTTGATGCCTGATGTGCTGGAAGCTAATATTATGACACTGGGTTTTTGAGAAAACAAAAGCTATTTGTTGCAGATCGACCTTTAACTCTTTGAGACACCGTTTCAGTGGATGGCAGGTGTGTGGGAGAGTGAGAATGCCTATCTGGCAAGTTGAGTAGACCTGGGTATTAGGAGCTTTTGTACTGAACAAAGCCAACTGCAGCCCTGCCAGTCACCCTAGGCTCCTACCTCTCACCTCCCTACCCCCACATCCAATCAGCCACCAAGACCTATAAGACTGTCTACTGAATCTCCCAAATCCATTCCCTTGTATTCCACCCATCTATGCTGTGGTCCAGGCCACCATTTCTCACTTGGATTACTGTAATAACCTCCTTGCTGTAATTTTACCTCCAGTCCCTCCTCCACACTGCAGCCAGTGTGATCTAAAAATGATCATGCTAGTTTACTCCTTAAATCTTCAGTGGCTCTTCACTGTCACCAAATTAAATCCATATTCCTTAAATTGGTATTCAAAGCCAATCAAAATCTCACTCCTATTGATCTCTCCAGCCTTCTCTCCCTCTGATTCCCTCTACAGACCCTTCACTTCCACCAAACTAGACAATTCTCAAATATACCCAGGAATTTTCTGCCAGTGTGTTTGCTTATGCTGTGACTTGTTTATTTTATTCTTTATTTATTTAGAGACAAAGTCTCACTCTGTCCTCCCGGCCGGAGTGCAGTGGTGCAATCATAGCTCACTGCAGCCTCAAACTCCTGGGCTCAAGTGATCCTCCCA
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GTTCACTTGTTTATCTGCTGACCTTCCCTCCACTATTGTCCTATGACCCTGCCAAATCCCCCTCTGTGAGAAACACCCAAGAATGATCAATAAAAGAAAAACAAACCCAAAAAAAAAAAAAAAAAAAAAGAAGGCAAGGTCTTGACTATCCCTTACTCAGTCTGCAGCTCCTGAGGAAGGCCATTGGTAGTACTGCATTCTCCTGGTCCTGTTTGCATCTGGGCTTGGGCTTGGGCTTGGGTTTGCTCCCACACCTGGCTCTGAAGGCCCTGCAGTTCCTTTCTCAGCTCCTCCAGGCATTGCTCCAGGAGAAAAGCACTCCCCTTTGGGGCCCCCTGCAGCAACCTTAGTGATGCTGTAGTGGGACAAGTTAGGGATCATCCTCTCTAAGAGTTTCACAAGACCCTAGATACTCTACTTGCAAAACAAGACACATGTGCACACACAACAGGTGTGTGGCAAAATTGTGTGCATACATATGAAGCTGTGTATATGAAGAAAATAACTGGCCAGATACCTTCCAGGACACTGATCTGGTACTTCTGCTGCTCTCGCTCTTCTAGCAGGCCCTGCACTGCCTGCCTTAGTGCCTGTCACCTCCCCAGGCAGAAAAAAGCACATGAACTACTGTATAACAGCTTTTCCCGACCCCTAGTATCCTCATCTTACACAAACATCACATATACACACCAAGGATTCCAAGCCTCACCTGAGCCTGACATTGAAATTAGGATCAGAGAATAGCAACCTCACCCCAGAGAGAGGATGGGCTCTAGGACTCAGGGCAGCTCAGCCTTTGTGGAACTATGGGAGTCTCTAAAGCCCAAGGCTGTTGAGCTTGGACTCCTGACTGCAGAGGCAAGTGATGAGAGGAAATCCAGGTCCCAGCCAGGTCCCCGGCTGAGGAAATAAGGAAGGGTTAAGTGCAGGGTCTGTGTGGGGAAACAGAGTTCAGGAAAGGACAGAGTTGGAATTTGGAAGGAATAATGGATGATACGGGCACTGGAGGAAGGCACAGAAAGAGAAAGGGCTTGGAAGTAGAAAGAGACATTACTTACCTGCGGTGGAGACCCCAAGAAGATACAGCCACTGCTACAGAAGAAACAGATGCACAGGCCAATGAGCTCTGTGGAGACCCCAAGAGGATACAGCCACTGCTACAAAAGAAACAGATGCACAGGCCAATGAACTCTGAGAGTCCCTTAGCCTCCCCACGCAAACTGGGGACCTCCACCAACCCCTCACCTTATTCCGGACCACATTTCCATCAGTAGCGTTGAGAAGCACATCCAGCTGCTCAAACCAGCTGAGGCTCGTATTCATATCCTGTGGCAGGGGAGCGGCAGGGGTCTGGCTCCCTGGTGTCTTGTGCTTGCTCTCCTAGCGGGGGATACCCAAGGTATCCCCAGGAAAGGCCACCACGTTAGATGGAAAGAGGGAAGTGGGGATGCAACACTGGGGTAGGTGGATGCACTATCAGACCAAAACTGCGATCCTGTGACTAGGGAAAGGAAGGACGCTCTTGGGGAACTGGGGGAAAAGCGGGATACCGTGATGATACGCAGATATCAGGTGGGGATTGAAGGTGCCAGAACCTGGTTGAGACCTCCCCAGAAGTAGTACACTGGCGCCACCACGCCAAACCTGTGCCAGTGACAACTGCCGCCGCCGGGTTCAAAACTTCGGGTTGGTTTTGAAAGTCCGACTTTGGACTGGCTGCCGCAGCGCCACCTGGGAAACTGAGGTCGCCTCTTGCGAACACAACCGGCGATGGAGGCGGTGGAACTACCTTTCTCTAGAAGAGACACGTACATGCACACCCCCACCGTGTAGCTTGCCGGGAAACTGAGTCTTCCTGATTTCGTGTGGCTGTCTCCAAGGAGGAAACGAACTACGCATCCCAAGATGCATCGCGCATAGGCAATATGGTCCCGCTACTGGACCCATTTCCTACCTGGGAAATGGAGTCGAAGCTGACTCAAAACGTAACGGCCCAATTGTCCTTGAGACTTCATTCCCCAGCAAGCTCAGCGTGTAACGTGCGCTATAGAGCCGAAAGTCGCAGAGCTGAAGCAGAAGATCGAGGACACGCTATGTCCTTTTGGCTTCGAGGTTTACCCCTTCCAGGTTAGTTTATCCCTCCTGCTGTTCTAGGGCGAAATATATGATTGGCTTCGTTGCAACTGGCGTGAGGCCTCGGGAGCCTCTGATCCTCCTGGGTTCCTGCAGCCCAGTGTCCATGTGACAACAGGGACAGAGTTTCAGTGGGGGCTTGGGTTAAAAAGGTAGTGGTCGAGGCCGGGCATGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACCTGAGGTGAGGAGTTCGAGACCAGCCTGGCCAACATGGTGAAACCCCATCTCTACTAAAAATATAAAATTAGCCGGGCGTGGTGGTGCATGCCTGTAATCCCAGCTACTCGGGAGGCTGAGGCAGGACAATTGCTTGAACCCATGAGACGGAGGTTGCAGTGAGCCGAGATTGCGCCATTGCAGTCCAGCCTGAGCAACAAAGAGCGAAACTCCGTGTCAAAAAAAAAAAAAAAAAAAAAAGTTGTCGCATGTTTAACCTTTTGCCACCATATAATGCCGGATTCGTTAACGGGAGACACCATATGACCTGTAGCGTGTGTGGCTCAGATTGTCACCTATATAATTTACAAGAAGAAAGGGACCTGTGAGGCAAAGTCACCTTGGAACTTCCTAAAGGATTTAGGAGAGGGCAAAGCCTAGAAGGTTTGCATAGCTATCATTTAGGTCAGCTGAGGAAGGAAGGGCATTCCTGGTGATGAACAGGCAAACAATTGGCTGGTTTGTTCCCTCTACCAACAGAAGGATAATTCATGATATTTCCAGTCATCAGTGCTGGGCTGGGTAATGAAACTTTGTACACTTGCCTGGCACAGCAGTCTCAGCACCGCACCCCGACCCCCATTTACACGGTTACATTTCCCCACATCAGTGCCCTGTGCACTGAGCAGTTAAGTTACAAAGCTAAATCAGCTCAGCTTGAGCCCTTTGCCTGATGCTTAAGAGACTACCCACTTCCCATTCCTTCTGCTGAGTGGCTCACAGCAGTCCTGGGAGAGGATATAGAGGGAGAAGTAGGTTGGGTCTAGCTTGAGACTGGTCTTGCCAGAAAAAATGGAATTGAGCTATATATGAAAAGATAGATTGGAAGGAAGGAGGGTTATGTACATCCCAAATATCAGAAAAAGCTTGAGTAAAGGTGTGGAGATAGTGGTGTGGTGTTACCAAGTAAAAGGGCTTGATGCCTGATGTGCTGGAAGCTAATATTATGACACTGGGTTTTTGAGAAAACAAAAGCTATTTGTTGCAGATCGACCTTTAACTCTTTGAGACACCGTTTCAGTGGATGGCAGGTGTGTGGGAGAGTGAGAATGCCTATCTGGCAAGTTGAGTAGACCTGGGTATTAGGAGCTTTTGTACTGAACAAAGCCAACTGCAGCCCTGCCAGTCACCCTAGGCTCCTACCTCTCACCTCCCTACCCCCACATCCAATCAGCCACCAAGACCTATAAGACTGTCTACTGAATCTCCCAAATCCATTCCCTTGTATTCCACCCATCTATGCTGTGGTCCAGGCCACCATTTCTCACTTGGATTACTGTAATAACCTCCTTGCTGTAATTTTACCTCCAGTCCCTCCTCCACACTGCAGCCAGTGTGATCTAAAAATGATCATGCTAGTTTACTCCTTAAATCTTCAGTGGCTCTTCACTGTCACCAAATTAAATCCATATTCCTTAAATTGGTATTCAAAGCCAATCAAAATCTCACTCCTATTGATCTCTCCAGCCTTCTCTCCCTCTGATTCCCTCTACAGACCCTTCACTTCCACCAAACTAGACAATTCTCAAATATACCCAGGAATTTTCTGCCAGTGTGTTTGCTTATGCTGTGACTTGTTTATTTTATTCTTTATTTATTTAGAGACAAAGTCTCACTCTGTCCTCCCGGCCGGAGTGCAGTGGTGCAATCATAGCTCACTGCAGCCTCAAACTCCTGGGCTCAAGTGATCCTCCCA
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Task1_train_873
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This variant impacts the gene MMACHC (metabolism of cobalamin associated C) on Chromosome 1. Is the change likely to result in a pathogenic outcome?
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Pathogenic; Cobalamin C disease
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CAAGAATGATCAATAAAAGAAAAACAAACCCAAAAAAAAAAAAAAAAAAAAAGAAGGCAAGGTCTTGACTATCCCTTACTCAGTCTGCAGCTCCTGAGGAAGGCCATTGGTAGTACTGCATTCTCCTGGTCCTGTTTGCATCTGGGCTTGGGCTTGGGCTTGGGTTTGCTCCCACACCTGGCTCTGAAGGCCCTGCAGTTCCTTTCTCAGCTCCTCCAGGCATTGCTCCAGGAGAAAAGCACTCCCCTTTGGGGCCCCCTGCAGCAACCTTAGTGATGCTGTAGTGGGACAAGTTAGGGATCATCCTCTCTAAGAGTTTCACAAGACCCTAGATACTCTACTTGCAAAACAAGACACATGTGCACACACAACAGGTGTGTGGCAAAATTGTGTGCATACATATGAAGCTGTGTATATGAAGAAAATAACTGGCCAGATACCTTCCAGGACACTGATCTGGTACTTCTGCTGCTCTCGCTCTTCTAGCAGGCCCTGCACTGCCTGCCTTAGTGCCTGTCACCTCCCCAGGCAGAAAAAAGCACATGAACTACTGTATAACAGCTTTTCCCGACCCCTAGTATCCTCATCTTACACAAACATCACATATACACACCAAGGATTCCAAGCCTCACCTGAGCCTGACATTGAAATTAGGATCAGAGAATAGCAACCTCACCCCAGAGAGAGGATGGGCTCTAGGACTCAGGGCAGCTCAGCCTTTGTGGAACTATGGGAGTCTCTAAAGCCCAAGGCTGTTGAGCTTGGACTCCTGACTGCAGAGGCAAGTGATGAGAGGAAATCCAGGTCCCAGCCAGGTCCCCGGCTGAGGAAATAAGGAAGGGTTAAGTGCAGGGTCTGTGTGGGGAAACAGAGTTCAGGAAAGGACAGAGTTGGAATTTGGAAGGAATAATGGATGATACGGGCACTGGAGGAAGGCACAGAAAGAGAAAGGGCTTGGAAGTAGAAAGAGACATTACTTACCTGCGGTGGAGACCCCAAGAAGATACAGCCACTGCTACAGAAGAAACAGATGCACAGGCCAATGAGCTCTGTGGAGACCCCAAGAGGATACAGCCACTGCTACAAAAGAAACAGATGCACAGGCCAATGAACTCTGAGAGTCCCTTAGCCTCCCCACGCAAACTGGGGACCTCCACCAACCCCTCACCTTATTCCGGACCACATTTCCATCAGTAGCGTTGAGAAGCACATCCAGCTGCTCAAACCAGCTGAGGCTCGTATTCATATCCTGTGGCAGGGGAGCGGCAGGGGTCTGGCTCCCTGGTGTCTTGTGCTTGCTCTCCTAGCGGGGGATACCCAAGGTATCCCCAGGAAAGGCCACCACGTTAGATGGAAAGAGGGAAGTGGGGATGCAACACTGGGGTAGGTGGATGCACTATCAGACCAAAACTGCGATCCTGTGACTAGGGAAAGGAAGGACGCTCTTGGGGAACTGGGGGAAAAGCGGGATACCGTGATGATACGCAGATATCAGGTGGGGATTGAAGGTGCCAGAACCTGGTTGAGACCTCCCCAGAAGTAGTACACTGGCGCCACCACGCCAAACCTGTGCCAGTGACAACTGCCGCCGCCGGGTTCAAAACTTCGGGTTGGTTTTGAAAGTCCGACTTTGGACTGGCTGCCGCAGCGCCACCTGGGAAACTGAGGTCGCCTCTTGCGAACACAACCGGCGATGGAGGCGGTGGAACTACCTTTCTCTAGAAGAGACACGTACATGCACACCCCCACCGTGTAGCTTGCCGGGAAACTGAGTCTTCCTGATTTCGTGTGGCTGTCTCCAAGGAGGAAACGAACTACGCATCCCAAGATGCATCGCGCATAGGCAATATGGTCCCGCTACTGGACCCATTTCCTACCTGGGAAATGGAGTCGAAGCTGACTCAAAACGTAACGGCCCAATTGTCCTTGAGACTTCATTCCCCAGCAAGCTCAGCGTGTAACGTGCGCTATGGAGCCGAAAGTCGCAGAGCTGAAGCAGAAGATCGAGGACACGCTATGTCCTTTTGGCTTCGAGGTTTACCCCTTCCAGGTTAGTTTATCCCTCCTGCTGTTCTAGGGCGAAATATATGATTGGCTTCGTTGCAACTGGCGTGAGGCCTCGGGAGCCTCTGATCCTCCTGGGTTCCTGCAGCCCAGTGTCCATGTGACAACAGGGACAGAGTTTCAGTGGGGGCTTGGGTTAAAAAGGTAGTGGTCGAGGCCGGGCATGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACCTGAGGTGAGGAGTTCGAGACCAGCCTGGCCAACATGGTGAAACCCCATCTCTACTAAAAATATAAAATTAGCCGGGCGTGGTGGTGCATGCCTGTAATCCCAGCTACTCGGGAGGCTGAGGCAGGACAATTGCTTGAACCCATGAGACGGAGGTTGCAGTGAGCCGAGATTGCGCCATTGCAGTCCAGCCTGAGCAACAAAGAGCGAAACTCCGTGTCAAAAAAAAAAAAAAAAAAAAAAGTTGTCGCATGTTTAACCTTTTGCCACCATATAATGCCGGATTCGTTAACGGGAGACACCATATGACCTGTAGCGTGTGTGGCTCAGATTGTCACCTATATAATTTACAAGAAGAAAGGGACCTGTGAGGCAAAGTCACCTTGGAACTTCCTAAAGGATTTAGGAGAGGGCAAAGCCTAGAAGGTTTGCATAGCTATCATTTAGGTCAGCTGAGGAAGGAAGGGCATTCCTGGTGATGAACAGGCAAACAATTGGCTGGTTTGTTCCCTCTACCAACAGAAGGATAATTCATGATATTTCCAGTCATCAGTGCTGGGCTGGGTAATGAAACTTTGTACACTTGCCTGGCACAGCAGTCTCAGCACCGCACCCCGACCCCCATTTACACGGTTACATTTCCCCACATCAGTGCCCTGTGCACTGAGCAGTTAAGTTACAAAGCTAAATCAGCTCAGCTTGAGCCCTTTGCCTGATGCTTAAGAGACTACCCACTTCCCATTCCTTCTGCTGAGTGGCTCACAGCAGTCCTGGGAGAGGATATAGAGGGAGAAGTAGGTTGGGTCTAGCTTGAGACTGGTCTTGCCAGAAAAAATGGAATTGAGCTATATATGAAAAGATAGATTGGAAGGAAGGAGGGTTATGTACATCCCAAATATCAGAAAAAGCTTGAGTAAAGGTGTGGAGATAGTGGTGTGGTGTTACCAAGTAAAAGGGCTTGATGCCTGATGTGCTGGAAGCTAATATTATGACACTGGGTTTTTGAGAAAACAAAAGCTATTTGTTGCAGATCGACCTTTAACTCTTTGAGACACCGTTTCAGTGGATGGCAGGTGTGTGGGAGAGTGAGAATGCCTATCTGGCAAGTTGAGTAGACCTGGGTATTAGGAGCTTTTGTACTGAACAAAGCCAACTGCAGCCCTGCCAGTCACCCTAGGCTCCTACCTCTCACCTCCCTACCCCCACATCCAATCAGCCACCAAGACCTATAAGACTGTCTACTGAATCTCCCAAATCCATTCCCTTGTATTCCACCCATCTATGCTGTGGTCCAGGCCACCATTTCTCACTTGGATTACTGTAATAACCTCCTTGCTGTAATTTTACCTCCAGTCCCTCCTCCACACTGCAGCCAGTGTGATCTAAAAATGATCATGCTAGTTTACTCCTTAAATCTTCAGTGGCTCTTCACTGTCACCAAATTAAATCCATATTCCTTAAATTGGTATTCAAAGCCAATCAAAATCTCACTCCTATTGATCTCTCCAGCCTTCTCTCCCTCTGATTCCCTCTACAGACCCTTCACTTCCACCAAACTAGACAATTCTCAAATATACCCAGGAATTTTCTGCCAGTGTGTTTGCTTATGCTGTGACTTGTTTATTTTATTCTTTATTTATTTAGAGACAAAGTCTCACTCTGTCCTCCCGGCCGGAGTGCAGTGGTGCAATCATAGCTCACTGCAGCCTCAAACTCCTGGGCTCAAGTGATCCTCCCACTTTAGTCTCCCAAGTAGCTGACTCCAGGCATGCACCAACACTCAGGGTCTCACTTTGTTGCCCTGGCTGGTCTTGA
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CAAGAATGATCAATAAAAGAAAAACAAACCCAAAAAAAAAAAAAAAAAAAAAGAAGGCAAGGTCTTGACTATCCCTTACTCAGTCTGCAGCTCCTGAGGAAGGCCATTGGTAGTACTGCATTCTCCTGGTCCTGTTTGCATCTGGGCTTGGGCTTGGGCTTGGGTTTGCTCCCACACCTGGCTCTGAAGGCCCTGCAGTTCCTTTCTCAGCTCCTCCAGGCATTGCTCCAGGAGAAAAGCACTCCCCTTTGGGGCCCCCTGCAGCAACCTTAGTGATGCTGTAGTGGGACAAGTTAGGGATCATCCTCTCTAAGAGTTTCACAAGACCCTAGATACTCTACTTGCAAAACAAGACACATGTGCACACACAACAGGTGTGTGGCAAAATTGTGTGCATACATATGAAGCTGTGTATATGAAGAAAATAACTGGCCAGATACCTTCCAGGACACTGATCTGGTACTTCTGCTGCTCTCGCTCTTCTAGCAGGCCCTGCACTGCCTGCCTTAGTGCCTGTCACCTCCCCAGGCAGAAAAAAGCACATGAACTACTGTATAACAGCTTTTCCCGACCCCTAGTATCCTCATCTTACACAAACATCACATATACACACCAAGGATTCCAAGCCTCACCTGAGCCTGACATTGAAATTAGGATCAGAGAATAGCAACCTCACCCCAGAGAGAGGATGGGCTCTAGGACTCAGGGCAGCTCAGCCTTTGTGGAACTATGGGAGTCTCTAAAGCCCAAGGCTGTTGAGCTTGGACTCCTGACTGCAGAGGCAAGTGATGAGAGGAAATCCAGGTCCCAGCCAGGTCCCCGGCTGAGGAAATAAGGAAGGGTTAAGTGCAGGGTCTGTGTGGGGAAACAGAGTTCAGGAAAGGACAGAGTTGGAATTTGGAAGGAATAATGGATGATACGGGCACTGGAGGAAGGCACAGAAAGAGAAAGGGCTTGGAAGTAGAAAGAGACATTACTTACCTGCGGTGGAGACCCCAAGAAGATACAGCCACTGCTACAGAAGAAACAGATGCACAGGCCAATGAGCTCTGTGGAGACCCCAAGAGGATACAGCCACTGCTACAAAAGAAACAGATGCACAGGCCAATGAACTCTGAGAGTCCCTTAGCCTCCCCACGCAAACTGGGGACCTCCACCAACCCCTCACCTTATTCCGGACCACATTTCCATCAGTAGCGTTGAGAAGCACATCCAGCTGCTCAAACCAGCTGAGGCTCGTATTCATATCCTGTGGCAGGGGAGCGGCAGGGGTCTGGCTCCCTGGTGTCTTGTGCTTGCTCTCCTAGCGGGGGATACCCAAGGTATCCCCAGGAAAGGCCACCACGTTAGATGGAAAGAGGGAAGTGGGGATGCAACACTGGGGTAGGTGGATGCACTATCAGACCAAAACTGCGATCCTGTGACTAGGGAAAGGAAGGACGCTCTTGGGGAACTGGGGGAAAAGCGGGATACCGTGATGATACGCAGATATCAGGTGGGGATTGAAGGTGCCAGAACCTGGTTGAGACCTCCCCAGAAGTAGTACACTGGCGCCACCACGCCAAACCTGTGCCAGTGACAACTGCCGCCGCCGGGTTCAAAACTTCGGGTTGGTTTTGAAAGTCCGACTTTGGACTGGCTGCCGCAGCGCCACCTGGGAAACTGAGGTCGCCTCTTGCGAACACAACCGGCGATGGAGGCGGTGGAACTACCTTTCTCTAGAAGAGACACGTACATGCACACCCCCACCGTGTAGCTTGCCGGGAAACTGAGTCTTCCTGATTTCGTGTGGCTGTCTCCAAGGAGGAAACGAACTACGCATCCCAAGATGCATCGCGCATAGGCAATATGGTCCCGCTACTGGACCCATTTCCTACCTGGGAAATGGAGTCGAAGCTGACTCAAAACGTAACGGCCCAATTGTCCTTGAGACTTCATTCCCCAGCAAGCTCAGCGTGTAACGTGCGCTATGGAGCCGAAAGTCGCAGAGCTGAAGCAGAAGATCGAGGACACGCTATGTCCTTTTGGCTTCGAGGTTTACCCCTTCCGGGTTAGTTTATCCCTCCTGCTGTTCTAGGGCGAAATATATGATTGGCTTCGTTGCAACTGGCGTGAGGCCTCGGGAGCCTCTGATCCTCCTGGGTTCCTGCAGCCCAGTGTCCATGTGACAACAGGGACAGAGTTTCAGTGGGGGCTTGGGTTAAAAAGGTAGTGGTCGAGGCCGGGCATGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACCTGAGGTGAGGAGTTCGAGACCAGCCTGGCCAACATGGTGAAACCCCATCTCTACTAAAAATATAAAATTAGCCGGGCGTGGTGGTGCATGCCTGTAATCCCAGCTACTCGGGAGGCTGAGGCAGGACAATTGCTTGAACCCATGAGACGGAGGTTGCAGTGAGCCGAGATTGCGCCATTGCAGTCCAGCCTGAGCAACAAAGAGCGAAACTCCGTGTCAAAAAAAAAAAAAAAAAAAAAAGTTGTCGCATGTTTAACCTTTTGCCACCATATAATGCCGGATTCGTTAACGGGAGACACCATATGACCTGTAGCGTGTGTGGCTCAGATTGTCACCTATATAATTTACAAGAAGAAAGGGACCTGTGAGGCAAAGTCACCTTGGAACTTCCTAAAGGATTTAGGAGAGGGCAAAGCCTAGAAGGTTTGCATAGCTATCATTTAGGTCAGCTGAGGAAGGAAGGGCATTCCTGGTGATGAACAGGCAAACAATTGGCTGGTTTGTTCCCTCTACCAACAGAAGGATAATTCATGATATTTCCAGTCATCAGTGCTGGGCTGGGTAATGAAACTTTGTACACTTGCCTGGCACAGCAGTCTCAGCACCGCACCCCGACCCCCATTTACACGGTTACATTTCCCCACATCAGTGCCCTGTGCACTGAGCAGTTAAGTTACAAAGCTAAATCAGCTCAGCTTGAGCCCTTTGCCTGATGCTTAAGAGACTACCCACTTCCCATTCCTTCTGCTGAGTGGCTCACAGCAGTCCTGGGAGAGGATATAGAGGGAGAAGTAGGTTGGGTCTAGCTTGAGACTGGTCTTGCCAGAAAAAATGGAATTGAGCTATATATGAAAAGATAGATTGGAAGGAAGGAGGGTTATGTACATCCCAAATATCAGAAAAAGCTTGAGTAAAGGTGTGGAGATAGTGGTGTGGTGTTACCAAGTAAAAGGGCTTGATGCCTGATGTGCTGGAAGCTAATATTATGACACTGGGTTTTTGAGAAAACAAAAGCTATTTGTTGCAGATCGACCTTTAACTCTTTGAGACACCGTTTCAGTGGATGGCAGGTGTGTGGGAGAGTGAGAATGCCTATCTGGCAAGTTGAGTAGACCTGGGTATTAGGAGCTTTTGTACTGAACAAAGCCAACTGCAGCCCTGCCAGTCACCCTAGGCTCCTACCTCTCACCTCCCTACCCCCACATCCAATCAGCCACCAAGACCTATAAGACTGTCTACTGAATCTCCCAAATCCATTCCCTTGTATTCCACCCATCTATGCTGTGGTCCAGGCCACCATTTCTCACTTGGATTACTGTAATAACCTCCTTGCTGTAATTTTACCTCCAGTCCCTCCTCCACACTGCAGCCAGTGTGATCTAAAAATGATCATGCTAGTTTACTCCTTAAATCTTCAGTGGCTCTTCACTGTCACCAAATTAAATCCATATTCCTTAAATTGGTATTCAAAGCCAATCAAAATCTCACTCCTATTGATCTCTCCAGCCTTCTCTCCCTCTGATTCCCTCTACAGACCCTTCACTTCCACCAAACTAGACAATTCTCAAATATACCCAGGAATTTTCTGCCAGTGTGTTTGCTTATGCTGTGACTTGTTTATTTTATTCTTTATTTATTTAGAGACAAAGTCTCACTCTGTCCTCCCGGCCGGAGTGCAGTGGTGCAATCATAGCTCACTGCAGCCTCAAACTCCTGGGCTCAAGTGATCCTCCCACTTTAGTCTCCCAAGTAGCTGACTCCAGGCATGCACCAACACTCAGGGTCTCACTTTGTTGCCCTGGCTGGTCTTGA
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Task1_train_874
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The variant affects gene MMACHC (metabolism of cobalamin associated C), which is on Chromosome 1. Please evaluate whether this mutation is benign or pathogenic and specify the disease if necessary.
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Pathogenic; not specified
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ATTGCAATAAGCCGAGGCTGCGCCATTGCACTCCAGCCTGGCGACAGAGTGAGAATCCGTCTCAAAAAATAAAATAAAATAAAATAAAAAAACAAAGACAGGTTCTCACTCTGTTACCCAGGCTGGTCTAAAACTCTTGGCCCCAAGCAGTCCTCCTACCTCAGCCTCCCAAAGTGCTGGGATTGCAGGCATGAGCCACCGCGCCGAGCCTAAAAACAGTATTTTAAGAAACTGCCTGGGCTGGGCCCGGTGGCTCACGCCTGTAATCTCAGCACTTTGGGAGGCCAAGTCAGGTGGATCACGAGGTCAGGAGATCGAGACCACCCTGGCCAACATGGTGAAACCTCATCTCTACTAAAAATACAAAAATTAGCCGGGCGTGGTGGCACGTGCCTGTAGTCCCAGCTACTCAGGAGGCTGAGGCAGGGGAATCACTTGAACCCGGGAGGCGGAGGTTGCGGTGAGCCTAGATCACGCCACTGCACTCTAACCTGGGCAACAGAGTGAGACTCCGTCTCAAAAAAAAAAAAAAACAAAACTGCCTGTTCTCTCCAAATTCATCTCTAGAGTTAGGGTTATATAGCCTGGAACTATGATCTCGTCTTTTGATCTGTCTGTATGGAGATGCTCTGGATATAGTAAAATTTTAATCTATTATAACCCCTTGATCTTCAGTGAAGACATAGCTTGCTGCCACTGATAGTTTCCCCTGATGACATATCAAAAGGATAAAGAAGTGCTGGTTGGGAAGAGACTGGTGGAACCACATCGTTTTGTGTCATTTGAGGATGAGTTGGACTGTGGCATGAACGGCATTGAGGGTTCAGGTGGCTTTCTCCCTCTCAGGCTTGGCTGCAGCAACATGCTTCTCCAGATTAACAATATTTTTCTGAACAACTGTCATGGCATCATATGTTGATTCTGCTTTGAGAAATCTCCGATCTTGTTTTTGTCTTAAAATGCCTTCAAGGTGTTGGACTTGGAGGGCAAGTGCGTTGACAGCCACTTTGACTGTTCCTATGCCCTCATGCACCTCAGTCAGTTGTGGATTTAGGAACTCTGCTCTGTGGGTCCTCGTTCCTGGGTTTTTAATTTTCTTTTATTATTATTATTATTTTTTGAGGCGGGGGTCTCACTCTGTTGCCCAGGCTGGAGTGCAGTGGCACGATCTTGTCTCATTGCAACCTCTGCCTACCGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGCGATTACAGGCGAGTGCCACCATGCTTGTCTAATTTTTGTATTTCTAGTACAGGCAGGGTTTCACCATGTTGGCCAGGCTGGTCTCAAACTCCAGACCTTAGGTGATCCACCTGCCTCGGCCTCCCAAAGTGCTGGGATTATAGCTGTGAGTCACCACACCTGGCGGGGTTTTTCATTTTCATTGGTTCATTTGTAGTTGGATGAGGCCTGAAATTATTTGCTGTCAGTCAGTCCTTCAATAAATAAAATAATTCCCTGGGCCAGGCTCGGTGGCTCACGCCTATATAATCCCAGCACTTTGGAAGGCCGAGGCAGGTGGGTCCTAGCTGAGGCCAGGAGTTCGGAGACCAGCCTGGCCAACATGGCGAAACCCTGTCTCTACTAAAAATACAAAAACTAGCCAGGCGTGGTAGTGCACATCGTAATCCCAGCTGCTCGGGAGGCTGAGGCATGAGAATCACTTGAATCTGGGAGGCCAAAGTTGCAGTGGGCCAAGATCATGCCACTGCACTCCAGCCTGGGTGACAGAGCAAGACTCTGTCTCAAAAAATAATGAATTCCCTGTCAAATTCAGTTGAGTTGCTTATAAAAATGCATCACATAGCGTCAGTGAAAATTCACTGAATGAGTGAGATGGAGGCTGGGGCAAAAGTGTGAGGCCTGAAGGTTAAGGTGTGGGCCAGGCTGAGGCCTAGACTGGCCCTCTCCAGCCTGGCCTGAACTTTCTGTTTCAGGTGGCATGGTACAATGAACTCTTGCCTCCAGCCTTCCACCTACCGCTGCCAGGACCTACCCTGGCCTTCCTGGTACTCAGCACGCCTGCCATGTTTGACCGGGCCCTCAAGCCCTTCTTGCAGAGCTGCCACCTCCGAATGCTGACTGACCCAGTGGACCAGTGTGTGGCCTACCATCTGGGCCGTGTTAGAGAGGTGAGGAAGGCTCAGTTTTCCCCCAGCTCCCAAACCTACAGCTGCCTCCAGTTCCTCCACACTCAATGCAGGATCTAGACCTAGGGCTAGGAGCCACTTCAAAGGTGAAATGATACCCTAAAGCCAGGCTTGACATTCTGTGATCTTTCCTCATTCTGCCTTCTCACACACCCAGGTTCCACCACCCTCATCTAGCAGTCCCCCAGTGTGAAATAGTCTCACTCACCCTACACTGATGGGCAACTATATGAACCTCAGACCAGGTTTTCCTTGGCCTCCAAGTGGAATAGGAATGAGTCCAACATTCCCCAGGCATTGCTTTGTCCTAGACCTGCAAGCTTTATGCTGTCCTTTTGAGGACAGAACAATATTCTCCCAACACACACTCACATATACACATAACTATGTACATACCCACTGGATCTCCCCAAAGCTGACCATGCCTTCCTTCACACCAGGTGTTATGTATTTCCCTTCAAACATGTGCCCTTCTGGAAATAACTATAACTATGTCCACACTGGAGCCTCCCAAGTTAAGGTCATGTTTTCCCTTCTGAGGACAGGACCATGTTCACACACACAAAACAAACTAGGGCTCCCTCGGACAAGGTCATAACTCCCCTCATGCTGACAGTACCCTCTATTTTGTCCACTGTTCCAGAGCCTCCCAGAGCTGCAGATAGAAATCATTGCTGACTACGAGGTGCACCCCAACCGACGCCCCAAGATCCTGGCCCAGACAGCAGCCCATGTAGCTGGGGCTGCTTACTACTACCAACGACAAGATGTGGAGGCTGACCCATGGGGGAACCAGGTGAGAGGGAAAATGTAAATAGAGGCTGAGATAGACTGGTAAAGGCCTCTCCCTACCAGGTCCCACATTCCTCAGCCTTCCCTGGATGGATGTGACACAACCCAGAACAAATTAGCTTTGTTCTGGATGGGAGGCAGTCCTGTCACATGCGGTTGTCTAACTGGGTACTCGTGAGATCAGAAAACTTAGTCTGCAGAACTGTCTTAGGATACAGGGGGCACAGCAGTGTTAAGACTAGTGGTGAGACTAGGAAGCCCAGCCCTTCCCTGTGCTCAGAATAGTTTATGAAAGGGTTTGCCAAGAAAAGGACAGAGGTTTATGTAGTCAGTGTACACTGAGTGGGAAGTGAACAGGCCTAGCTTGCAATGATGGCAGTTGACTTGGTGCCAAGGGGACCTCCATGACCTTGCTTTTCTTCACCCTCTCCCCAGCGCATATCAGGTGTGTGCATACACCCCCGATTTGGGGGCTGGTTTGCCATCCGAGGGGTAGTGCTGCTGCCAGGGATAGAGGTGCCAGATCTGCCACCCAGAAAACCTCATGACTGTGTACCTACAAGAGCTGACCGTATCGCCCTACTCGAAGGCTTCAATTTCCACTGGCGTGATTGGACTTACCGGGATGCTGTGACACCCCAGGAGCGCTACTCAGAAGAGCAGAAGGCCTACTTCTCCACTCCACCTGCCCAACGATTGGCCCTATTGGGCTTGGCTCAGCCCTCAGAGAAGCCTAGTTCTCCCTCCCCGGACCTTCCCTTTACCACACCCGCCCCCAAGAAGCCTGGGAATCCCAGCAGAGCCCGGAGCTGGCTCAGCCCCAGGGTCTCACCACCTGCATCCCCTGGCCCTTGATTTTCTCCCATGTGGACCCTGATTTATGGTGGTACTTGCTAGGACTTAATTGGCTTTGGCAAAGCAAAAGGTTTTGAGTACAAGATTACTATTTTTGATAATATAGTAGAGATCTTCCATGAAGATAACAAGGCTCAAGGAAGTTAGGTTTGGCCAAGATAAAGGCCAGGGAACCAGAATTCCCATCTGCCTTCAAATGAGTTTTTTTTTTTTTTTTAGACAGAGTCTTACTCTGTCACCTAGGCTGGAGTGCAGTGGCACAGT
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ATTGCAATAAGCCGAGGCTGCGCCATTGCACTCCAGCCTGGCGACAGAGTGAGAATCCGTCTCAAAAAATAAAATAAAATAAAATAAAAAAACAAAGACAGGTTCTCACTCTGTTACCCAGGCTGGTCTAAAACTCTTGGCCCCAAGCAGTCCTCCTACCTCAGCCTCCCAAAGTGCTGGGATTGCAGGCATGAGCCACCGCGCCGAGCCTAAAAACAGTATTTTAAGAAACTGCCTGGGCTGGGCCCGGTGGCTCACGCCTGTAATCTCAGCACTTTGGGAGGCCAAGTCAGGTGGATCACGAGGTCAGGAGATCGAGACCACCCTGGCCAACATGGTGAAACCTCATCTCTACTAAAAATACAAAAATTAGCCGGGCGTGGTGGCACGTGCCTGTAGTCCCAGCTACTCAGGAGGCTGAGGCAGGGGAATCACTTGAACCCGGGAGGCGGAGGTTGCGGTGAGCCTAGATCACGCCACTGCACTCTAACCTGGGCAACAGAGTGAGACTCCGTCTCAAAAAAAAAAAAAAACAAAACTGCCTGTTCTCTCCAAATTCATCTCTAGAGTTAGGGTTATATAGCCTGGAACTATGATCTCGTCTTTTGATCTGTCTGTATGGAGATGCTCTGGATATAGTAAAATTTTAATCTATTATAACCCCTTGATCTTCAGTGAAGACATAGCTTGCTGCCACTGATAGTTTCCCCTGATGACATATCAAAAGGATAAAGAAGTGCTGGTTGGGAAGAGACTGGTGGAACCACATCGTTTTGTGTCATTTGAGGATGAGTTGGACTGTGGCATGAACGGCATTGAGGGTTCAGGTGGCTTTCTCCCTCTCAGGCTTGGCTGCAGCAACATGCTTCTCCAGATTAACAATATTTTTCTGAACAACTGTCATGGCATCATATGTTGATTCTGCTTTGAGAAATCTCCGATCTTGTTTTTGTCTTAAAATGCCTTCAAGGTGTTGGACTTGGAGGGCAAGTGCGTTGACAGCCACTTTGACTGTTCCTATGCCCTCATGCACCTCAGTCAGTTGTGGATTTAGGAACTCTGCTCTGTGGGTCCTCGTTCCTGGGTTTTTAATTTTCTTTTATTATTATTATTATTTTTTGAGGCGGGGGTCTCACTCTGTTGCCCAGGCTGGAGTGCAGTGGCACGATCTTGTCTCATTGCAACCTCTGCCTACCGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGCGATTACAGGCGAGTGCCACCATGCTTGTCTAATTTTTGTATTTCTAGTACAGGCAGGGTTTCACCATGTTGGCCAGGCTGGTCTCAAACTCCAGACCTTAGGTGATCCACCTGCCTCGGCCTCCCAAAGTGCTGGGATTATAGCTGTGAGTCACCACACCTGGCGGGGTTTTTCATTTTCATTGGTTCATTTGTAGTTGGATGAGGCCTGAAATTATTTGCTGTCAGTCAGTCCTTCAATAAATAAAATAATTCCCTGGGCCAGGCTCGGTGGCTCACGCCTATATAATCCCAGCACTTTGGAAGGCCGAGGCAGGTGGGTCCTAGCTGAGGCCAGGAGTTCGGAGACCAGCCTGGCCAACATGGCGAAACCCTGTCTCTACTAAAAATACAAAAACTAGCCAGGCGTGGTAGTGCACATCGTAATCCCAGCTGCTCGGGAGGCTGAGGCATGAGAATCACTTGAATCTGGGAGGCCAAAGTTGCAGTGGGCCAAGATCATGCCACTGCACTCCAGCCTGGGTGACAGAGCAAGACTCTGTCTCAAAAAATAATGAATTCCCTGTCAAATTCAGTTGAGTTGCTTATAAAAATGCATCACATAGCGTCAGTGAAAATTCACTGAATGAGTGAGATGGAGGCTGGGGCAAAAGTGTGAGGCCTGAAGGTTAAGGTGTGGGCCAGGCTGAGGCCTAGACTGGCCCTCTCCAGCCTGGCCTGAACTTTCTGTTTCAGGTGGCATGGTACAATGAACTCTTGCCTCCAGCCTTCCACCTACCGCTGCCAGGACCTACCCTGGCCTTCCTGGTACCCAGCACGCCTGCCATGTTTGACCGGGCCCTCAAGCCCTTCTTGCAGAGCTGCCACCTCCGAATGCTGACTGACCCAGTGGACCAGTGTGTGGCCTACCATCTGGGCCGTGTTAGAGAGGTGAGGAAGGCTCAGTTTTCCCCCAGCTCCCAAACCTACAGCTGCCTCCAGTTCCTCCACACTCAATGCAGGATCTAGACCTAGGGCTAGGAGCCACTTCAAAGGTGAAATGATACCCTAAAGCCAGGCTTGACATTCTGTGATCTTTCCTCATTCTGCCTTCTCACACACCCAGGTTCCACCACCCTCATCTAGCAGTCCCCCAGTGTGAAATAGTCTCACTCACCCTACACTGATGGGCAACTATATGAACCTCAGACCAGGTTTTCCTTGGCCTCCAAGTGGAATAGGAATGAGTCCAACATTCCCCAGGCATTGCTTTGTCCTAGACCTGCAAGCTTTATGCTGTCCTTTTGAGGACAGAACAATATTCTCCCAACACACACTCACATATACACATAACTATGTACATACCCACTGGATCTCCCCAAAGCTGACCATGCCTTCCTTCACACCAGGTGTTATGTATTTCCCTTCAAACATGTGCCCTTCTGGAAATAACTATAACTATGTCCACACTGGAGCCTCCCAAGTTAAGGTCATGTTTTCCCTTCTGAGGACAGGACCATGTTCACACACACAAAACAAACTAGGGCTCCCTCGGACAAGGTCATAACTCCCCTCATGCTGACAGTACCCTCTATTTTGTCCACTGTTCCAGAGCCTCCCAGAGCTGCAGATAGAAATCATTGCTGACTACGAGGTGCACCCCAACCGACGCCCCAAGATCCTGGCCCAGACAGCAGCCCATGTAGCTGGGGCTGCTTACTACTACCAACGACAAGATGTGGAGGCTGACCCATGGGGGAACCAGGTGAGAGGGAAAATGTAAATAGAGGCTGAGATAGACTGGTAAAGGCCTCTCCCTACCAGGTCCCACATTCCTCAGCCTTCCCTGGATGGATGTGACACAACCCAGAACAAATTAGCTTTGTTCTGGATGGGAGGCAGTCCTGTCACATGCGGTTGTCTAACTGGGTACTCGTGAGATCAGAAAACTTAGTCTGCAGAACTGTCTTAGGATACAGGGGGCACAGCAGTGTTAAGACTAGTGGTGAGACTAGGAAGCCCAGCCCTTCCCTGTGCTCAGAATAGTTTATGAAAGGGTTTGCCAAGAAAAGGACAGAGGTTTATGTAGTCAGTGTACACTGAGTGGGAAGTGAACAGGCCTAGCTTGCAATGATGGCAGTTGACTTGGTGCCAAGGGGACCTCCATGACCTTGCTTTTCTTCACCCTCTCCCCAGCGCATATCAGGTGTGTGCATACACCCCCGATTTGGGGGCTGGTTTGCCATCCGAGGGGTAGTGCTGCTGCCAGGGATAGAGGTGCCAGATCTGCCACCCAGAAAACCTCATGACTGTGTACCTACAAGAGCTGACCGTATCGCCCTACTCGAAGGCTTCAATTTCCACTGGCGTGATTGGACTTACCGGGATGCTGTGACACCCCAGGAGCGCTACTCAGAAGAGCAGAAGGCCTACTTCTCCACTCCACCTGCCCAACGATTGGCCCTATTGGGCTTGGCTCAGCCCTCAGAGAAGCCTAGTTCTCCCTCCCCGGACCTTCCCTTTACCACACCCGCCCCCAAGAAGCCTGGGAATCCCAGCAGAGCCCGGAGCTGGCTCAGCCCCAGGGTCTCACCACCTGCATCCCCTGGCCCTTGATTTTCTCCCATGTGGACCCTGATTTATGGTGGTACTTGCTAGGACTTAATTGGCTTTGGCAAAGCAAAAGGTTTTGAGTACAAGATTACTATTTTTGATAATATAGTAGAGATCTTCCATGAAGATAACAAGGCTCAAGGAAGTTAGGTTTGGCCAAGATAAAGGCCAGGGAACCAGAATTCCCATCTGCCTTCAAATGAGTTTTTTTTTTTTTTTTAGACAGAGTCTTACTCTGTCACCTAGGCTGGAGTGCAGTGGCACAGT
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Task1_train_875
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Assess the clinical impact of this variant on gene MMACHC (metabolism of cobalamin associated C), found on Chromosome 1. State whether it’s pathogenic or benign, and the disease if applicable.
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Pathogenic; Cobalamin C disease
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ATTGCAATAAGCCGAGGCTGCGCCATTGCACTCCAGCCTGGCGACAGAGTGAGAATCCGTCTCAAAAAATAAAATAAAATAAAATAAAAAAACAAAGACAGGTTCTCACTCTGTTACCCAGGCTGGTCTAAAACTCTTGGCCCCAAGCAGTCCTCCTACCTCAGCCTCCCAAAGTGCTGGGATTGCAGGCATGAGCCACCGCGCCGAGCCTAAAAACAGTATTTTAAGAAACTGCCTGGGCTGGGCCCGGTGGCTCACGCCTGTAATCTCAGCACTTTGGGAGGCCAAGTCAGGTGGATCACGAGGTCAGGAGATCGAGACCACCCTGGCCAACATGGTGAAACCTCATCTCTACTAAAAATACAAAAATTAGCCGGGCGTGGTGGCACGTGCCTGTAGTCCCAGCTACTCAGGAGGCTGAGGCAGGGGAATCACTTGAACCCGGGAGGCGGAGGTTGCGGTGAGCCTAGATCACGCCACTGCACTCTAACCTGGGCAACAGAGTGAGACTCCGTCTCAAAAAAAAAAAAAAACAAAACTGCCTGTTCTCTCCAAATTCATCTCTAGAGTTAGGGTTATATAGCCTGGAACTATGATCTCGTCTTTTGATCTGTCTGTATGGAGATGCTCTGGATATAGTAAAATTTTAATCTATTATAACCCCTTGATCTTCAGTGAAGACATAGCTTGCTGCCACTGATAGTTTCCCCTGATGACATATCAAAAGGATAAAGAAGTGCTGGTTGGGAAGAGACTGGTGGAACCACATCGTTTTGTGTCATTTGAGGATGAGTTGGACTGTGGCATGAACGGCATTGAGGGTTCAGGTGGCTTTCTCCCTCTCAGGCTTGGCTGCAGCAACATGCTTCTCCAGATTAACAATATTTTTCTGAACAACTGTCATGGCATCATATGTTGATTCTGCTTTGAGAAATCTCCGATCTTGTTTTTGTCTTAAAATGCCTTCAAGGTGTTGGACTTGGAGGGCAAGTGCGTTGACAGCCACTTTGACTGTTCCTATGCCCTCATGCACCTCAGTCAGTTGTGGATTTAGGAACTCTGCTCTGTGGGTCCTCGTTCCTGGGTTTTTAATTTTCTTTTATTATTATTATTATTTTTTGAGGCGGGGGTCTCACTCTGTTGCCCAGGCTGGAGTGCAGTGGCACGATCTTGTCTCATTGCAACCTCTGCCTACCGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGCGATTACAGGCGAGTGCCACCATGCTTGTCTAATTTTTGTATTTCTAGTACAGGCAGGGTTTCACCATGTTGGCCAGGCTGGTCTCAAACTCCAGACCTTAGGTGATCCACCTGCCTCGGCCTCCCAAAGTGCTGGGATTATAGCTGTGAGTCACCACACCTGGCGGGGTTTTTCATTTTCATTGGTTCATTTGTAGTTGGATGAGGCCTGAAATTATTTGCTGTCAGTCAGTCCTTCAATAAATAAAATAATTCCCTGGGCCAGGCTCGGTGGCTCACGCCTATATAATCCCAGCACTTTGGAAGGCCGAGGCAGGTGGGTCCTAGCTGAGGCCAGGAGTTCGGAGACCAGCCTGGCCAACATGGCGAAACCCTGTCTCTACTAAAAATACAAAAACTAGCCAGGCGTGGTAGTGCACATCGTAATCCCAGCTGCTCGGGAGGCTGAGGCATGAGAATCACTTGAATCTGGGAGGCCAAAGTTGCAGTGGGCCAAGATCATGCCACTGCACTCCAGCCTGGGTGACAGAGCAAGACTCTGTCTCAAAAAATAATGAATTCCCTGTCAAATTCAGTTGAGTTGCTTATAAAAATGCATCACATAGCGTCAGTGAAAATTCACTGAATGAGTGAGATGGAGGCTGGGGCAAAAGTGTGAGGCCTGAAGGTTAAGGTGTGGGCCAGGCTGAGGCCTAGACTGGCCCTCTCCAGCCTGGCCTGAACTTTCTGTTTCAGGTGGCATGGTACAATGAACTCTTGCCTCCAGCCTTCCACCTACCGCTGCCAGGACCTACCCTGGCCTTCCTGGTACTCAGCACGCCTGCCATGTTTGACCGGGCCCTCAAGCCCTTCTTGCAGAGCTGCCACCTCCGAATGCTGACTGACCCAGTGGACCAGTGTGTGGCCTACCATCTGGGCCGTGTTAGAGAGGTGAGGAAGGCTCAGTTTTCCCCCAGCTCCCAAACCTACAGCTGCCTCCAGTTCCTCCACACTCAATGCAGGATCTAGACCTAGGGCTAGGAGCCACTTCAAAGGTGAAATGATACCCTAAAGCCAGGCTTGACATTCTGTGATCTTTCCTCATTCTGCCTTCTCACACACCCAGGTTCCACCACCCTCATCTAGCAGTCCCCCAGTGTGAAATAGTCTCACTCACCCTACACTGATGGGCAACTATATGAACCTCAGACCAGGTTTTCCTTGGCCTCCAAGTGGAATAGGAATGAGTCCAACATTCCCCAGGCATTGCTTTGTCCTAGACCTGCAAGCTTTATGCTGTCCTTTTGAGGACAGAACAATATTCTCCCAACACACACTCACATATACACATAACTATGTACATACCCACTGGATCTCCCCAAAGCTGACCATGCCTTCCTTCACACCAGGTGTTATGTATTTCCCTTCAAACATGTGCCCTTCTGGAAATAACTATAACTATGTCCACACTGGAGCCTCCCAAGTTAAGGTCATGTTTTCCCTTCTGAGGACAGGACCATGTTCACACACACAAAACAAACTAGGGCTCCCTCGGACAAGGTCATAACTCCCCTCATGCTGACAGTACCCTCTATTTTGTCCACTGTTCCAGAGCCTCCCAGAGCTGCAGATAGAAATCATTGCTGACTACGAGGTGCACCCCAACCGACGCCCCAAGATCCTGGCCCAGACAGCAGCCCATGTAGCTGGGGCTGCTTACTACTACCAACGACAAGATGTGGAGGCTGACCCATGGGGGAACCAGGTGAGAGGGAAAATGTAAATAGAGGCTGAGATAGACTGGTAAAGGCCTCTCCCTACCAGGTCCCACATTCCTCAGCCTTCCCTGGATGGATGTGACACAACCCAGAACAAATTAGCTTTGTTCTGGATGGGAGGCAGTCCTGTCACATGCGGTTGTCTAACTGGGTACTCGTGAGATCAGAAAACTTAGTCTGCAGAACTGTCTTAGGATACAGGGGGCACAGCAGTGTTAAGACTAGTGGTGAGACTAGGAAGCCCAGCCCTTCCCTGTGCTCAGAATAGTTTATGAAAGGGTTTGCCAAGAAAAGGACAGAGGTTTATGTAGTCAGTGTACACTGAGTGGGAAGTGAACAGGCCTAGCTTGCAATGATGGCAGTTGACTTGGTGCCAAGGGGACCTCCATGACCTTGCTTTTCTTCACCCTCTCCCCAGCGCATATCAGGTGTGTGCATACACCCCCGATTTGGGGGCTGGTTTGCCATCCGAGGGGTAGTGCTGCTGCCAGGGATAGAGGTGCCAGATCTGCCACCCAGAAAACCTCATGACTGTGTACCTACAAGAGCTGACCGTATCGCCCTACTCGAAGGCTTCAATTTCCACTGGCGTGATTGGACTTACCGGGATGCTGTGACACCCCAGGAGCGCTACTCAGAAGAGCAGAAGGCCTACTTCTCCACTCCACCTGCCCAACGATTGGCCCTATTGGGCTTGGCTCAGCCCTCAGAGAAGCCTAGTTCTCCCTCCCCGGACCTTCCCTTTACCACACCCGCCCCCAAGAAGCCTGGGAATCCCAGCAGAGCCCGGAGCTGGCTCAGCCCCAGGGTCTCACCACCTGCATCCCCTGGCCCTTGATTTTCTCCCATGTGGACCCTGATTTATGGTGGTACTTGCTAGGACTTAATTGGCTTTGGCAAAGCAAAAGGTTTTGAGTACAAGATTACTATTTTTGATAATATAGTAGAGATCTTCCATGAAGATAACAAGGCTCAAGGAAGTTAGGTTTGGCCAAGATAAAGGCCAGGGAACCAGAATTCCCATCTGCCTTCAAATGAGTTTTTTTTTTTTTTTTAGACAGAGTCTTACTCTGTCACCTAGGCTGGAGTGCAGTGGCACAGT
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ATTGCAATAAGCCGAGGCTGCGCCATTGCACTCCAGCCTGGCGACAGAGTGAGAATCCGTCTCAAAAAATAAAATAAAATAAAATAAAAAAACAAAGACAGGTTCTCACTCTGTTACCCAGGCTGGTCTAAAACTCTTGGCCCCAAGCAGTCCTCCTACCTCAGCCTCCCAAAGTGCTGGGATTGCAGGCATGAGCCACCGCGCCGAGCCTAAAAACAGTATTTTAAGAAACTGCCTGGGCTGGGCCCGGTGGCTCACGCCTGTAATCTCAGCACTTTGGGAGGCCAAGTCAGGTGGATCACGAGGTCAGGAGATCGAGACCACCCTGGCCAACATGGTGAAACCTCATCTCTACTAAAAATACAAAAATTAGCCGGGCGTGGTGGCACGTGCCTGTAGTCCCAGCTACTCAGGAGGCTGAGGCAGGGGAATCACTTGAACCCGGGAGGCGGAGGTTGCGGTGAGCCTAGATCACGCCACTGCACTCTAACCTGGGCAACAGAGTGAGACTCCGTCTCAAAAAAAAAAAAAAACAAAACTGCCTGTTCTCTCCAAATTCATCTCTAGAGTTAGGGTTATATAGCCTGGAACTATGATCTCGTCTTTTGATCTGTCTGTATGGAGATGCTCTGGATATAGTAAAATTTTAATCTATTATAACCCCTTGATCTTCAGTGAAGACATAGCTTGCTGCCACTGATAGTTTCCCCTGATGACATATCAAAAGGATAAAGAAGTGCTGGTTGGGAAGAGACTGGTGGAACCACATCGTTTTGTGTCATTTGAGGATGAGTTGGACTGTGGCATGAACGGCATTGAGGGTTCAGGTGGCTTTCTCCCTCTCAGGCTTGGCTGCAGCAACATGCTTCTCCAGATTAACAATATTTTTCTGAACAACTGTCATGGCATCATATGTTGATTCTGCTTTGAGAAATCTCCGATCTTGTTTTTGTCTTAAAATGCCTTCAAGGTGTTGGACTTGGAGGGCAAGTGCGTTGACAGCCACTTTGACTGTTCCTATGCCCTCATGCACCTCAGTCAGTTGTGGATTTAGGAACTCTGCTCTGTGGGTCCTCGTTCCTGGGTTTTTAATTTTCTTTTATTATTATTATTATTTTTTGAGGCGGGGGTCTCACTCTGTTGCCCAGGCTGGAGTGCAGTGGCACGATCTTGTCTCATTGCAACCTCTGCCTACCGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGCGATTACAGGCGAGTGCCACCATGCTTGTCTAATTTTTGTATTTCTAGTACAGGCAGGGTTTCACCATGTTGGCCAGGCTGGTCTCAAACTCCAGACCTTAGGTGATCCACCTGCCTCGGCCTCCCAAAGTGCTGGGATTATAGCTGTGAGTCACCACACCTGGCGGGGTTTTTCATTTTCATTGGTTCATTTGTAGTTGGATGAGGCCTGAAATTATTTGCTGTCAGTCAGTCCTTCAATAAATAAAATAATTCCCTGGGCCAGGCTCGGTGGCTCACGCCTATATAATCCCAGCACTTTGGAAGGCCGAGGCAGGTGGGTCCTAGCTGAGGCCAGGAGTTCGGAGACCAGCCTGGCCAACATGGCGAAACCCTGTCTCTACTAAAAATACAAAAACTAGCCAGGCGTGGTAGTGCACATCGTAATCCCAGCTGCTCGGGAGGCTGAGGCATGAGAATCACTTGAATCTGGGAGGCCAAAGTTGCAGTGGGCCAAGATCATGCCACTGCACTCCAGCCTGGGTGACAGAGCAAGACTCTGTCTCAAAAAATAATGAATTCCCTGTCAAATTCAGTTGAGTTGCTTATAAAAATGCATCACATAGCGTCAGTGAAAATTCACTGAATGAGTGAGATGGAGGCTGGGGCAAAAGTGTGAGGCCTGAAGGTTAAGGTGTGGGCCAGGCTGAGGCCTAGACTGGCCCTCTCCAGCCTGGCCTGAACTTTCTGTTTCAGGTGGCATGGTACAATGAACTCTTGCCTCCAGCCTTCCACCTACCGCTGCCAGGACCTACCCTGGCCTTCCTGGTACCCAGCACGCCTGCCATGTTTGACCGGGCCCTCAAGCCCTTCTTGCAGAGCTGCCACCTCCGAATGCTGACTGACCCAGTGGACCAGTGTGTGGCCTACCATCTGGGCCGTGTTAGAGAGGTGAGGAAGGCTCAGTTTTCCCCCAGCTCCCAAACCTACAGCTGCCTCCAGTTCCTCCACACTCAATGCAGGATCTAGACCTAGGGCTAGGAGCCACTTCAAAGGTGAAATGATACCCTAAAGCCAGGCTTGACATTCTGTGATCTTTCCTCATTCTGCCTTCTCACACACCCAGGTTCCACCACCCTCATCTAGCAGTCCCCCAGTGTGAAATAGTCTCACTCACCCTACACTGATGGGCAACTATATGAACCTCAGACCAGGTTTTCCTTGGCCTCCAAGTGGAATAGGAATGAGTCCAACATTCCCCAGGCATTGCTTTGTCCTAGACCTGCAAGCTTTATGCTGTCCTTTTGAGGACAGAACAATATTCTCCCAACACACACTCACATATACACATAACTATGTACATACCCACTGGATCTCCCCAAAGCTGACCATGCCTTCCTTCACACCAGGTGTTATGTATTTCCCTTCAAACATGTGCCCTTCTGGAAATAACTATAACTATGTCCACACTGGAGCCTCCCAAGTTAAGGTCATGTTTTCCCTTCTGAGGACAGGACCATGTTCACACACACAAAACAAACTAGGGCTCCCTCGGACAAGGTCATAACTCCCCTCATGCTGACAGTACCCTCTATTTTGTCCACTGTTCCAGAGCCTCCCAGAGCTGCAGATAGAAATCATTGCTGACTACGAGGTGCACCCCAACCGACGCCCCAAGATCCTGGCCCAGACAGCAGCCCATGTAGCTGGGGCTGCTTACTACTACCAACGACAAGATGTGGAGGCTGACCCATGGGGGAACCAGGTGAGAGGGAAAATGTAAATAGAGGCTGAGATAGACTGGTAAAGGCCTCTCCCTACCAGGTCCCACATTCCTCAGCCTTCCCTGGATGGATGTGACACAACCCAGAACAAATTAGCTTTGTTCTGGATGGGAGGCAGTCCTGTCACATGCGGTTGTCTAACTGGGTACTCGTGAGATCAGAAAACTTAGTCTGCAGAACTGTCTTAGGATACAGGGGGCACAGCAGTGTTAAGACTAGTGGTGAGACTAGGAAGCCCAGCCCTTCCCTGTGCTCAGAATAGTTTATGAAAGGGTTTGCCAAGAAAAGGACAGAGGTTTATGTAGTCAGTGTACACTGAGTGGGAAGTGAACAGGCCTAGCTTGCAATGATGGCAGTTGACTTGGTGCCAAGGGGACCTCCATGACCTTGCTTTTCTTCACCCTCTCCCCAGCGCATATCAGGTGTGTGCATACACCCCCGATTTGGGGGCTGGTTTGCCATCCGAGGGGTAGTGCTGCTGCCAGGGATAGAGGTGCCAGATCTGCCACCCAGAAAACCTCATGACTGTGTACCTACAAGAGCTGACCGTATCGCCCTACTCGAAGGCTTCAATTTCCACTGGCGTGATTGGACTTACCGGGATGCTGTGACACCCCAGGAGCGCTACTCAGAAGAGCAGAAGGCCTACTTCTCCACTCCACCTGCCCAACGATTGGCCCTATTGGGCTTGGCTCAGCCCTCAGAGAAGCCTAGTTCTCCCTCCCCGGACCTTCCCTTTACCACACCCGCCCCCAAGAAGCCTGGGAATCCCAGCAGAGCCCGGAGCTGGCTCAGCCCCAGGGTCTCACCACCTGCATCCCCTGGCCCTTGATTTTCTCCCATGTGGACCCTGATTTATGGTGGTACTTGCTAGGACTTAATTGGCTTTGGCAAAGCAAAAGGTTTTGAGTACAAGATTACTATTTTTGATAATATAGTAGAGATCTTCCATGAAGATAACAAGGCTCAAGGAAGTTAGGTTTGGCCAAGATAAAGGCCAGGGAACCAGAATTCCCATCTGCCTTCAAATGAGTTTTTTTTTTTTTTTTAGACAGAGTCTTACTCTGTCACCTAGGCTGGAGTGCAGTGGCACAGT
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Task1_train_876
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Given this variant in gene MMACHC (metabolism of cobalamin associated C) on Chromosome 1, classify it as benign or pathogenic. Include the disorder it may cause if applicable.
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Pathogenic; Cobalamin C disease
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CAGGCTGGTCTAAAACTCTTGGCCCCAAGCAGTCCTCCTACCTCAGCCTCCCAAAGTGCTGGGATTGCAGGCATGAGCCACCGCGCCGAGCCTAAAAACAGTATTTTAAGAAACTGCCTGGGCTGGGCCCGGTGGCTCACGCCTGTAATCTCAGCACTTTGGGAGGCCAAGTCAGGTGGATCACGAGGTCAGGAGATCGAGACCACCCTGGCCAACATGGTGAAACCTCATCTCTACTAAAAATACAAAAATTAGCCGGGCGTGGTGGCACGTGCCTGTAGTCCCAGCTACTCAGGAGGCTGAGGCAGGGGAATCACTTGAACCCGGGAGGCGGAGGTTGCGGTGAGCCTAGATCACGCCACTGCACTCTAACCTGGGCAACAGAGTGAGACTCCGTCTCAAAAAAAAAAAAAAACAAAACTGCCTGTTCTCTCCAAATTCATCTCTAGAGTTAGGGTTATATAGCCTGGAACTATGATCTCGTCTTTTGATCTGTCTGTATGGAGATGCTCTGGATATAGTAAAATTTTAATCTATTATAACCCCTTGATCTTCAGTGAAGACATAGCTTGCTGCCACTGATAGTTTCCCCTGATGACATATCAAAAGGATAAAGAAGTGCTGGTTGGGAAGAGACTGGTGGAACCACATCGTTTTGTGTCATTTGAGGATGAGTTGGACTGTGGCATGAACGGCATTGAGGGTTCAGGTGGCTTTCTCCCTCTCAGGCTTGGCTGCAGCAACATGCTTCTCCAGATTAACAATATTTTTCTGAACAACTGTCATGGCATCATATGTTGATTCTGCTTTGAGAAATCTCCGATCTTGTTTTTGTCTTAAAATGCCTTCAAGGTGTTGGACTTGGAGGGCAAGTGCGTTGACAGCCACTTTGACTGTTCCTATGCCCTCATGCACCTCAGTCAGTTGTGGATTTAGGAACTCTGCTCTGTGGGTCCTCGTTCCTGGGTTTTTAATTTTCTTTTATTATTATTATTATTTTTTGAGGCGGGGGTCTCACTCTGTTGCCCAGGCTGGAGTGCAGTGGCACGATCTTGTCTCATTGCAACCTCTGCCTACCGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGCGATTACAGGCGAGTGCCACCATGCTTGTCTAATTTTTGTATTTCTAGTACAGGCAGGGTTTCACCATGTTGGCCAGGCTGGTCTCAAACTCCAGACCTTAGGTGATCCACCTGCCTCGGCCTCCCAAAGTGCTGGGATTATAGCTGTGAGTCACCACACCTGGCGGGGTTTTTCATTTTCATTGGTTCATTTGTAGTTGGATGAGGCCTGAAATTATTTGCTGTCAGTCAGTCCTTCAATAAATAAAATAATTCCCTGGGCCAGGCTCGGTGGCTCACGCCTATATAATCCCAGCACTTTGGAAGGCCGAGGCAGGTGGGTCCTAGCTGAGGCCAGGAGTTCGGAGACCAGCCTGGCCAACATGGCGAAACCCTGTCTCTACTAAAAATACAAAAACTAGCCAGGCGTGGTAGTGCACATCGTAATCCCAGCTGCTCGGGAGGCTGAGGCATGAGAATCACTTGAATCTGGGAGGCCAAAGTTGCAGTGGGCCAAGATCATGCCACTGCACTCCAGCCTGGGTGACAGAGCAAGACTCTGTCTCAAAAAATAATGAATTCCCTGTCAAATTCAGTTGAGTTGCTTATAAAAATGCATCACATAGCGTCAGTGAAAATTCACTGAATGAGTGAGATGGAGGCTGGGGCAAAAGTGTGAGGCCTGAAGGTTAAGGTGTGGGCCAGGCTGAGGCCTAGACTGGCCCTCTCCAGCCTGGCCTGAACTTTCTGTTTCAGGTGGCATGGTACAATGAACTCTTGCCTCCAGCCTTCCACCTACCGCTGCCAGGACCTACCCTGGCCTTCCTGGTACTCAGCACGCCTGCCATGTTTGACCGGGCCCTCAAGCCCTTCTTGCAGAGCTGCCACCTCCGAATGCTGACTGACCCAGTGGACCAGTGTGTGGCCTACCATCTGGGCCGTGTTAGAGAGGTGAGGAAGGCTCAGTTTTCCCCCAGCTCCCAAACCTACAGCTGCCTCCAGTTCCTCCACACTCAATGCAGGATCTAGACCTAGGGCTAGGAGCCACTTCAAAGGTGAAATGATACCCTAAAGCCAGGCTTGACATTCTGTGATCTTTCCTCATTCTGCCTTCTCACACACCCAGGTTCCACCACCCTCATCTAGCAGTCCCCCAGTGTGAAATAGTCTCACTCACCCTACACTGATGGGCAACTATATGAACCTCAGACCAGGTTTTCCTTGGCCTCCAAGTGGAATAGGAATGAGTCCAACATTCCCCAGGCATTGCTTTGTCCTAGACCTGCAAGCTTTATGCTGTCCTTTTGAGGACAGAACAATATTCTCCCAACACACACTCACATATACACATAACTATGTACATACCCACTGGATCTCCCCAAAGCTGACCATGCCTTCCTTCACACCAGGTGTTATGTATTTCCCTTCAAACATGTGCCCTTCTGGAAATAACTATAACTATGTCCACACTGGAGCCTCCCAAGTTAAGGTCATGTTTTCCCTTCTGAGGACAGGACCATGTTCACACACACAAAACAAACTAGGGCTCCCTCGGACAAGGTCATAACTCCCCTCATGCTGACAGTACCCTCTATTTTGTCCACTGTTCCAGAGCCTCCCAGAGCTGCAGATAGAAATCATTGCTGACTACGAGGTGCACCCCAACCGACGCCCCAAGATCCTGGCCCAGACAGCAGCCCATGTAGCTGGGGCTGCTTACTACTACCAACGACAAGATGTGGAGGCTGACCCATGGGGGAACCAGGTGAGAGGGAAAATGTAAATAGAGGCTGAGATAGACTGGTAAAGGCCTCTCCCTACCAGGTCCCACATTCCTCAGCCTTCCCTGGATGGATGTGACACAACCCAGAACAAATTAGCTTTGTTCTGGATGGGAGGCAGTCCTGTCACATGCGGTTGTCTAACTGGGTACTCGTGAGATCAGAAAACTTAGTCTGCAGAACTGTCTTAGGATACAGGGGGCACAGCAGTGTTAAGACTAGTGGTGAGACTAGGAAGCCCAGCCCTTCCCTGTGCTCAGAATAGTTTATGAAAGGGTTTGCCAAGAAAAGGACAGAGGTTTATGTAGTCAGTGTACACTGAGTGGGAAGTGAACAGGCCTAGCTTGCAATGATGGCAGTTGACTTGGTGCCAAGGGGACCTCCATGACCTTGCTTTTCTTCACCCTCTCCCCAGCGCATATCAGGTGTGTGCATACACCCCCGATTTGGGGGCTGGTTTGCCATCCGAGGGGTAGTGCTGCTGCCAGGGATAGAGGTGCCAGATCTGCCACCCAGAAAACCTCATGACTGTGTACCTACAAGAGCTGACCGTATCGCCCTACTCGAAGGCTTCAATTTCCACTGGCGTGATTGGACTTACCGGGATGCTGTGACACCCCAGGAGCGCTACTCAGAAGAGCAGAAGGCCTACTTCTCCACTCCACCTGCCCAACGATTGGCCCTATTGGGCTTGGCTCAGCCCTCAGAGAAGCCTAGTTCTCCCTCCCCGGACCTTCCCTTTACCACACCCGCCCCCAAGAAGCCTGGGAATCCCAGCAGAGCCCGGAGCTGGCTCAGCCCCAGGGTCTCACCACCTGCATCCCCTGGCCCTTGATTTTCTCCCATGTGGACCCTGATTTATGGTGGTACTTGCTAGGACTTAATTGGCTTTGGCAAAGCAAAAGGTTTTGAGTACAAGATTACTATTTTTGATAATATAGTAGAGATCTTCCATGAAGATAACAAGGCTCAAGGAAGTTAGGTTTGGCCAAGATAAAGGCCAGGGAACCAGAATTCCCATCTGCCTTCAAATGAGTTTTTTTTTTTTTTTTAGACAGAGTCTTACTCTGTCACCTAGGCTGGAGTGCAGTGGCACAGTCTCTACTCACTGCAACCTCTGCCTCCTGGGTTCAAGCAATTATCTGCCTCAGCCTCCTGAGTAGCTGGGATGACAGGTGCCTGCCACTACACCTGGCTAATTTTTTGTATTTTTAGTA
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CAGGCTGGTCTAAAACTCTTGGCCCCAAGCAGTCCTCCTACCTCAGCCTCCCAAAGTGCTGGGATTGCAGGCATGAGCCACCGCGCCGAGCCTAAAAACAGTATTTTAAGAAACTGCCTGGGCTGGGCCCGGTGGCTCACGCCTGTAATCTCAGCACTTTGGGAGGCCAAGTCAGGTGGATCACGAGGTCAGGAGATCGAGACCACCCTGGCCAACATGGTGAAACCTCATCTCTACTAAAAATACAAAAATTAGCCGGGCGTGGTGGCACGTGCCTGTAGTCCCAGCTACTCAGGAGGCTGAGGCAGGGGAATCACTTGAACCCGGGAGGCGGAGGTTGCGGTGAGCCTAGATCACGCCACTGCACTCTAACCTGGGCAACAGAGTGAGACTCCGTCTCAAAAAAAAAAAAAAACAAAACTGCCTGTTCTCTCCAAATTCATCTCTAGAGTTAGGGTTATATAGCCTGGAACTATGATCTCGTCTTTTGATCTGTCTGTATGGAGATGCTCTGGATATAGTAAAATTTTAATCTATTATAACCCCTTGATCTTCAGTGAAGACATAGCTTGCTGCCACTGATAGTTTCCCCTGATGACATATCAAAAGGATAAAGAAGTGCTGGTTGGGAAGAGACTGGTGGAACCACATCGTTTTGTGTCATTTGAGGATGAGTTGGACTGTGGCATGAACGGCATTGAGGGTTCAGGTGGCTTTCTCCCTCTCAGGCTTGGCTGCAGCAACATGCTTCTCCAGATTAACAATATTTTTCTGAACAACTGTCATGGCATCATATGTTGATTCTGCTTTGAGAAATCTCCGATCTTGTTTTTGTCTTAAAATGCCTTCAAGGTGTTGGACTTGGAGGGCAAGTGCGTTGACAGCCACTTTGACTGTTCCTATGCCCTCATGCACCTCAGTCAGTTGTGGATTTAGGAACTCTGCTCTGTGGGTCCTCGTTCCTGGGTTTTTAATTTTCTTTTATTATTATTATTATTTTTTGAGGCGGGGGTCTCACTCTGTTGCCCAGGCTGGAGTGCAGTGGCACGATCTTGTCTCATTGCAACCTCTGCCTACCGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGCGATTACAGGCGAGTGCCACCATGCTTGTCTAATTTTTGTATTTCTAGTACAGGCAGGGTTTCACCATGTTGGCCAGGCTGGTCTCAAACTCCAGACCTTAGGTGATCCACCTGCCTCGGCCTCCCAAAGTGCTGGGATTATAGCTGTGAGTCACCACACCTGGCGGGGTTTTTCATTTTCATTGGTTCATTTGTAGTTGGATGAGGCCTGAAATTATTTGCTGTCAGTCAGTCCTTCAATAAATAAAATAATTCCCTGGGCCAGGCTCGGTGGCTCACGCCTATATAATCCCAGCACTTTGGAAGGCCGAGGCAGGTGGGTCCTAGCTGAGGCCAGGAGTTCGGAGACCAGCCTGGCCAACATGGCGAAACCCTGTCTCTACTAAAAATACAAAAACTAGCCAGGCGTGGTAGTGCACATCGTAATCCCAGCTGCTCGGGAGGCTGAGGCATGAGAATCACTTGAATCTGGGAGGCCAAAGTTGCAGTGGGCCAAGATCATGCCACTGCACTCCAGCCTGGGTGACAGAGCAAGACTCTGTCTCAAAAAATAATGAATTCCCTGTCAAATTCAGTTGAGTTGCTTATAAAAATGCATCACATAGCGTCAGTGAAAATTCACTGAATGAGTGAGATGGAGGCTGGGGCAAAAGTGTGAGGCCTGAAGGTTAAGGTGTGGGCCAGGCTGAGGCCTAGACTGGCCCTCTCCAGCCTGGCCTGAACTTTCTGTTTCAGGTGGCATGGTACAATGAACTCTTGCCTCCAGCCTTCCACCTACCGCTGCCAGGACCTACCCTGGCCTTCCTGGTACTCAGCACGCCTGCCATGTTTGACCGGGCCCTCAAGCCCTTCTTGCAGAGCTGCCACCTCCGAATGCTGACTGACCCAGTGGACCAGTGTGTGGCCTACCATCTGGGCCGTGTTAGAGATGTGAGGAAGGCTCAGTTTTCCCCCAGCTCCCAAACCTACAGCTGCCTCCAGTTCCTCCACACTCAATGCAGGATCTAGACCTAGGGCTAGGAGCCACTTCAAAGGTGAAATGATACCCTAAAGCCAGGCTTGACATTCTGTGATCTTTCCTCATTCTGCCTTCTCACACACCCAGGTTCCACCACCCTCATCTAGCAGTCCCCCAGTGTGAAATAGTCTCACTCACCCTACACTGATGGGCAACTATATGAACCTCAGACCAGGTTTTCCTTGGCCTCCAAGTGGAATAGGAATGAGTCCAACATTCCCCAGGCATTGCTTTGTCCTAGACCTGCAAGCTTTATGCTGTCCTTTTGAGGACAGAACAATATTCTCCCAACACACACTCACATATACACATAACTATGTACATACCCACTGGATCTCCCCAAAGCTGACCATGCCTTCCTTCACACCAGGTGTTATGTATTTCCCTTCAAACATGTGCCCTTCTGGAAATAACTATAACTATGTCCACACTGGAGCCTCCCAAGTTAAGGTCATGTTTTCCCTTCTGAGGACAGGACCATGTTCACACACACAAAACAAACTAGGGCTCCCTCGGACAAGGTCATAACTCCCCTCATGCTGACAGTACCCTCTATTTTGTCCACTGTTCCAGAGCCTCCCAGAGCTGCAGATAGAAATCATTGCTGACTACGAGGTGCACCCCAACCGACGCCCCAAGATCCTGGCCCAGACAGCAGCCCATGTAGCTGGGGCTGCTTACTACTACCAACGACAAGATGTGGAGGCTGACCCATGGGGGAACCAGGTGAGAGGGAAAATGTAAATAGAGGCTGAGATAGACTGGTAAAGGCCTCTCCCTACCAGGTCCCACATTCCTCAGCCTTCCCTGGATGGATGTGACACAACCCAGAACAAATTAGCTTTGTTCTGGATGGGAGGCAGTCCTGTCACATGCGGTTGTCTAACTGGGTACTCGTGAGATCAGAAAACTTAGTCTGCAGAACTGTCTTAGGATACAGGGGGCACAGCAGTGTTAAGACTAGTGGTGAGACTAGGAAGCCCAGCCCTTCCCTGTGCTCAGAATAGTTTATGAAAGGGTTTGCCAAGAAAAGGACAGAGGTTTATGTAGTCAGTGTACACTGAGTGGGAAGTGAACAGGCCTAGCTTGCAATGATGGCAGTTGACTTGGTGCCAAGGGGACCTCCATGACCTTGCTTTTCTTCACCCTCTCCCCAGCGCATATCAGGTGTGTGCATACACCCCCGATTTGGGGGCTGGTTTGCCATCCGAGGGGTAGTGCTGCTGCCAGGGATAGAGGTGCCAGATCTGCCACCCAGAAAACCTCATGACTGTGTACCTACAAGAGCTGACCGTATCGCCCTACTCGAAGGCTTCAATTTCCACTGGCGTGATTGGACTTACCGGGATGCTGTGACACCCCAGGAGCGCTACTCAGAAGAGCAGAAGGCCTACTTCTCCACTCCACCTGCCCAACGATTGGCCCTATTGGGCTTGGCTCAGCCCTCAGAGAAGCCTAGTTCTCCCTCCCCGGACCTTCCCTTTACCACACCCGCCCCCAAGAAGCCTGGGAATCCCAGCAGAGCCCGGAGCTGGCTCAGCCCCAGGGTCTCACCACCTGCATCCCCTGGCCCTTGATTTTCTCCCATGTGGACCCTGATTTATGGTGGTACTTGCTAGGACTTAATTGGCTTTGGCAAAGCAAAAGGTTTTGAGTACAAGATTACTATTTTTGATAATATAGTAGAGATCTTCCATGAAGATAACAAGGCTCAAGGAAGTTAGGTTTGGCCAAGATAAAGGCCAGGGAACCAGAATTCCCATCTGCCTTCAAATGAGTTTTTTTTTTTTTTTTAGACAGAGTCTTACTCTGTCACCTAGGCTGGAGTGCAGTGGCACAGTCTCTACTCACTGCAACCTCTGCCTCCTGGGTTCAAGCAATTATCTGCCTCAGCCTCCTGAGTAGCTGGGATGACAGGTGCCTGCCACTACACCTGGCTAATTTTTTGTATTTTTAGTA
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Task1_train_877
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Given this variant in gene MMACHC (metabolism of cobalamin associated C) on Chromosome 1, classify it as benign or pathogenic. Include the disorder it may cause if applicable.
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Pathogenic; Cobalamin C disease
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GTGAGTCACCACACCTGGCGGGGTTTTTCATTTTCATTGGTTCATTTGTAGTTGGATGAGGCCTGAAATTATTTGCTGTCAGTCAGTCCTTCAATAAATAAAATAATTCCCTGGGCCAGGCTCGGTGGCTCACGCCTATATAATCCCAGCACTTTGGAAGGCCGAGGCAGGTGGGTCCTAGCTGAGGCCAGGAGTTCGGAGACCAGCCTGGCCAACATGGCGAAACCCTGTCTCTACTAAAAATACAAAAACTAGCCAGGCGTGGTAGTGCACATCGTAATCCCAGCTGCTCGGGAGGCTGAGGCATGAGAATCACTTGAATCTGGGAGGCCAAAGTTGCAGTGGGCCAAGATCATGCCACTGCACTCCAGCCTGGGTGACAGAGCAAGACTCTGTCTCAAAAAATAATGAATTCCCTGTCAAATTCAGTTGAGTTGCTTATAAAAATGCATCACATAGCGTCAGTGAAAATTCACTGAATGAGTGAGATGGAGGCTGGGGCAAAAGTGTGAGGCCTGAAGGTTAAGGTGTGGGCCAGGCTGAGGCCTAGACTGGCCCTCTCCAGCCTGGCCTGAACTTTCTGTTTCAGGTGGCATGGTACAATGAACTCTTGCCTCCAGCCTTCCACCTACCGCTGCCAGGACCTACCCTGGCCTTCCTGGTACTCAGCACGCCTGCCATGTTTGACCGGGCCCTCAAGCCCTTCTTGCAGAGCTGCCACCTCCGAATGCTGACTGACCCAGTGGACCAGTGTGTGGCCTACCATCTGGGCCGTGTTAGAGAGGTGAGGAAGGCTCAGTTTTCCCCCAGCTCCCAAACCTACAGCTGCCTCCAGTTCCTCCACACTCAATGCAGGATCTAGACCTAGGGCTAGGAGCCACTTCAAAGGTGAAATGATACCCTAAAGCCAGGCTTGACATTCTGTGATCTTTCCTCATTCTGCCTTCTCACACACCCAGGTTCCACCACCCTCATCTAGCAGTCCCCCAGTGTGAAATAGTCTCACTCACCCTACACTGATGGGCAACTATATGAACCTCAGACCAGGTTTTCCTTGGCCTCCAAGTGGAATAGGAATGAGTCCAACATTCCCCAGGCATTGCTTTGTCCTAGACCTGCAAGCTTTATGCTGTCCTTTTGAGGACAGAACAATATTCTCCCAACACACACTCACATATACACATAACTATGTACATACCCACTGGATCTCCCCAAAGCTGACCATGCCTTCCTTCACACCAGGTGTTATGTATTTCCCTTCAAACATGTGCCCTTCTGGAAATAACTATAACTATGTCCACACTGGAGCCTCCCAAGTTAAGGTCATGTTTTCCCTTCTGAGGACAGGACCATGTTCACACACACAAAACAAACTAGGGCTCCCTCGGACAAGGTCATAACTCCCCTCATGCTGACAGTACCCTCTATTTTGTCCACTGTTCCAGAGCCTCCCAGAGCTGCAGATAGAAATCATTGCTGACTACGAGGTGCACCCCAACCGACGCCCCAAGATCCTGGCCCAGACAGCAGCCCATGTAGCTGGGGCTGCTTACTACTACCAACGACAAGATGTGGAGGCTGACCCATGGGGGAACCAGGTGAGAGGGAAAATGTAAATAGAGGCTGAGATAGACTGGTAAAGGCCTCTCCCTACCAGGTCCCACATTCCTCAGCCTTCCCTGGATGGATGTGACACAACCCAGAACAAATTAGCTTTGTTCTGGATGGGAGGCAGTCCTGTCACATGCGGTTGTCTAACTGGGTACTCGTGAGATCAGAAAACTTAGTCTGCAGAACTGTCTTAGGATACAGGGGGCACAGCAGTGTTAAGACTAGTGGTGAGACTAGGAAGCCCAGCCCTTCCCTGTGCTCAGAATAGTTTATGAAAGGGTTTGCCAAGAAAAGGACAGAGGTTTATGTAGTCAGTGTACACTGAGTGGGAAGTGAACAGGCCTAGCTTGCAATGATGGCAGTTGACTTGGTGCCAAGGGGACCTCCATGACCTTGCTTTTCTTCACCCTCTCCCCAGCGCATATCAGGTGTGTGCATACACCCCCGATTTGGGGGCTGGTTTGCCATCCGAGGGGTAGTGCTGCTGCCAGGGATAGAGGTGCCAGATCTGCCACCCAGAAAACCTCATGACTGTGTACCTACAAGAGCTGACCGTATCGCCCTACTCGAAGGCTTCAATTTCCACTGGCGTGATTGGACTTACCGGGATGCTGTGACACCCCAGGAGCGCTACTCAGAAGAGCAGAAGGCCTACTTCTCCACTCCACCTGCCCAACGATTGGCCCTATTGGGCTTGGCTCAGCCCTCAGAGAAGCCTAGTTCTCCCTCCCCGGACCTTCCCTTTACCACACCCGCCCCCAAGAAGCCTGGGAATCCCAGCAGAGCCCGGAGCTGGCTCAGCCCCAGGGTCTCACCACCTGCATCCCCTGGCCCTTGATTTTCTCCCATGTGGACCCTGATTTATGGTGGTACTTGCTAGGACTTAATTGGCTTTGGCAAAGCAAAAGGTTTTGAGTACAAGATTACTATTTTTGATAATATAGTAGAGATCTTCCATGAAGATAACAAGGCTCAAGGAAGTTAGGTTTGGCCAAGATAAAGGCCAGGGAACCAGAATTCCCATCTGCCTTCAAATGAGTTTTTTTTTTTTTTTTAGACAGAGTCTTACTCTGTCACCTAGGCTGGAGTGCAGTGGCACAGTCTCTACTCACTGCAACCTCTGCCTCCTGGGTTCAAGCAATTATCTGCCTCAGCCTCCTGAGTAGCTGGGATGACAGGTGCCTGCCACTACACCTGGCTAATTTTTTGTATTTTTAGTAGAGATGGGGTTTCATCATATTGGCCAGGCTGGTCTTTAACTCCTGACCTCGTGATCCACCCATCTTGGCCTCCCAAAGTCCTGGGATTACAGGAATGAGCCACCGCACCCAGCCAAGACTCTATCTGTTCCCATTTCTAAGCAGTTCCCCAAGATGTTGTTACAGGGCCTAAGGGGCAAATATCCTCTAAAGAGTACCTACCAGCAGGGTGTGGTGGCTCCCGCCTGTAATCCCAGCACTCTGGGAGGCCGAGGCAGGTGGATCATGAGGTCGAGTTTGAGACCAGCCTGGCCAATACAGTGAAACCCCGTCTCTACTAAAAATGCAAAGTTAGCCGGGCATGGTAGCGCAGGCCTGTAGTCCCAGCTACTCAGGAGGCTGAGGCAGTAGAATCATTTGAACCAGGGAGGCAGAGATTGCAGTGAGCCGAGATTGCATGGCTGCACTCTAGCCTGGGTGACAGTGTGAGACTCTGTCTCAAAAAAAAAAAAAAAAGTACCTACCTCAGGTAGGGACTGAATAAACACGTGTAAGGCACTTTGGAAAAATACCTGGCATATATAGTAAGCAGTATGTTGGCCATTACCAAAGGCCCTGGGAATTCTGTACTGCTGCTCATGGGTGTAGTCGGTTCTAGAGGGGTGGGCAGGTGGGAGTAGCTGAGGAAGACAAGTGGCTGGAATGGTATCACATGATACACAGAAGTATCCTCAGTTCTGAATCTACCTTGGCCTCAAGGGCCCAGGAGAATAACTTTTCCCAGCTGACAGCCTCTCTGAGGACAATGACATATGAATGAGGATCAAAACGAGCTTTGGCCAGGCACTGTGGCGCTCACCTGTAATCCCACCATTTTGGGAGGCTGAGGCGGAGGACCGCCTGAGGCAAGGAATTCAGAACCACTCTGGGCAACATAATGACACTAAAAAAGACTATCTCTAATCAAGGCTAGAACCAAGGGAAGGCTAAGAATTGCCCAGTACTGTGCAACTACGAAAGCCCTACCCAAGGCCACCAGCCTTGTCTTCCTCTTTCCTCTGTCAGTTCAAAAAGAACAGAAACCTCCAGCTCTTTTACATAGCAGGTACCAGGCATTTATCAGAAGAGGCCAAGCTTCTGGTTCCCATGCAGCCCTTTGAATAGTGTGTCTAAACAAAAATAGGTGTCCAAGTAGTCACACTGAGACTTTAACTGGTAACCCAGCCTGTGGCGTCAGTCGCAGTGCTCTGGCCAACACTATAGCAGGGCTTATTCTTCTCCCTCAT
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GTGAGTCACCACACCTGGCGGGGTTTTTCATTTTCATTGGTTCATTTGTAGTTGGATGAGGCCTGAAATTATTTGCTGTCAGTCAGTCCTTCAATAAATAAAATAATTCCCTGGGCCAGGCTCGGTGGCTCACGCCTATATAATCCCAGCACTTTGGAAGGCCGAGGCAGGTGGGTCCTAGCTGAGGCCAGGAGTTCGGAGACCAGCCTGGCCAACATGGCGAAACCCTGTCTCTACTAAAAATACAAAAACTAGCCAGGCGTGGTAGTGCACATCGTAATCCCAGCTGCTCGGGAGGCTGAGGCATGAGAATCACTTGAATCTGGGAGGCCAAAGTTGCAGTGGGCCAAGATCATGCCACTGCACTCCAGCCTGGGTGACAGAGCAAGACTCTGTCTCAAAAAATAATGAATTCCCTGTCAAATTCAGTTGAGTTGCTTATAAAAATGCATCACATAGCGTCAGTGAAAATTCACTGAATGAGTGAGATGGAGGCTGGGGCAAAAGTGTGAGGCCTGAAGGTTAAGGTGTGGGCCAGGCTGAGGCCTAGACTGGCCCTCTCCAGCCTGGCCTGAACTTTCTGTTTCAGGTGGCATGGTACAATGAACTCTTGCCTCCAGCCTTCCACCTACCGCTGCCAGGACCTACCCTGGCCTTCCTGGTACTCAGCACGCCTGCCATGTTTGACCGGGCCCTCAAGCCCTTCTTGCAGAGCTGCCACCTCCGAATGCTGACTGACCCAGTGGACCAGTGTGTGGCCTACCATCTGGGCCGTGTTAGAGAGGTGAGGAAGGCTCAGTTTTCCCCCAGCTCCCAAACCTACAGCTGCCTCCAGTTCCTCCACACTCAATGCAGGATCTAGACCTAGGGCTAGGAGCCACTTCAAAGGTGAAATGATACCCTAAAGCCAGGCTTGACATTCTGTGATCTTTCCTCATTCTGCCTTCTCACACACCCAGGTTCCACCACCCTCATCTAGCAGTCCCCCAGTGTGAAATAGTCTCACTCACCCTACACTGATGGGCAACTATATGAACCTCAGACCAGGTTTTCCTTGGCCTCCAAGTGGAATAGGAATGAGTCCAACATTCCCCAGGCATTGCTTTGTCCTAGACCTGCAAGCTTTATGCTGTCCTTTTGAGGACAGAACAATATTCTCCCAACACACACTCACATATACACATAACTATGTACATACCCACTGGATCTCCCCAAAGCTGACCATGCCTTCCTTCACACCAGGTGTTATGTATTTCCCTTCAAACATGTGCCCTTCTGGAAATAACTATAACTATGTCCACACTGGAGCCTCCCAAGTTAAGGTCATGTTTTCCCTTCTGAGGACAGGACCATGTTCACACACACAAAACAAACTAGGGCTCCCTCGGACAAGGTCATAACTCCCCTCATGCTGACAGTACCCTCTATTTTGTCCACTGTTCCAGAGCCTCCCAGAGCTGCAGATAGAAATCATTGCTGACTACGAGGTGCACCCCAACCGACGCCCCAAGATCCTGGCCCAGACAGCAGCCCATGTAGCTGGGGCTGCTTACTACTACCAACGACAAGATGTGGAGGCTGACCCATGGGGGAACCAGGTGAGAGGGAAAATGTAAATAGAGGCTGAGATAGACTGGTAAAGGCCTCTCCCTACCAGGTCCCACATTCCTCAGCCTTCCCTGGATGGATGTGACACAACCCAGAACAAATTAGCTTTGTTCTGGATGGGAGGCAGTCCTGTCACATGCGGTTGTCTAACTGGGTACTCGTGAGATCAGAAAACTTAGTCTGCAGAACTGTCTTAGGATACAGGGGGCACAGCAGTGTTAAGACTAGTGGTGAGACTAGGAAGCCCAGCCCTTCCCTGTGCTCAGAATAGTTTATGAAAGGGTTTGCCAAGAAAAGGACAGAGGTTTATGTAGTCAGTGTACACTGAGTGGGAAGTGAACAGGCCTAGCTTGCAATGATGGCAGTTGACTTGGTGCCAAGGGGACCTCCATGACCTTGCTTTTCTTCACCCTCTCCCCAGCGCATATCAGGTGTGTGCAAACACCCCCGATTTGGGGGCTGGTTTGCCATCCGAGGGGTAGTGCTGCTGCCAGGGATAGAGGTGCCAGATCTGCCACCCAGAAAACCTCATGACTGTGTACCTACAAGAGCTGACCGTATCGCCCTACTCGAAGGCTTCAATTTCCACTGGCGTGATTGGACTTACCGGGATGCTGTGACACCCCAGGAGCGCTACTCAGAAGAGCAGAAGGCCTACTTCTCCACTCCACCTGCCCAACGATTGGCCCTATTGGGCTTGGCTCAGCCCTCAGAGAAGCCTAGTTCTCCCTCCCCGGACCTTCCCTTTACCACACCCGCCCCCAAGAAGCCTGGGAATCCCAGCAGAGCCCGGAGCTGGCTCAGCCCCAGGGTCTCACCACCTGCATCCCCTGGCCCTTGATTTTCTCCCATGTGGACCCTGATTTATGGTGGTACTTGCTAGGACTTAATTGGCTTTGGCAAAGCAAAAGGTTTTGAGTACAAGATTACTATTTTTGATAATATAGTAGAGATCTTCCATGAAGATAACAAGGCTCAAGGAAGTTAGGTTTGGCCAAGATAAAGGCCAGGGAACCAGAATTCCCATCTGCCTTCAAATGAGTTTTTTTTTTTTTTTTAGACAGAGTCTTACTCTGTCACCTAGGCTGGAGTGCAGTGGCACAGTCTCTACTCACTGCAACCTCTGCCTCCTGGGTTCAAGCAATTATCTGCCTCAGCCTCCTGAGTAGCTGGGATGACAGGTGCCTGCCACTACACCTGGCTAATTTTTTGTATTTTTAGTAGAGATGGGGTTTCATCATATTGGCCAGGCTGGTCTTTAACTCCTGACCTCGTGATCCACCCATCTTGGCCTCCCAAAGTCCTGGGATTACAGGAATGAGCCACCGCACCCAGCCAAGACTCTATCTGTTCCCATTTCTAAGCAGTTCCCCAAGATGTTGTTACAGGGCCTAAGGGGCAAATATCCTCTAAAGAGTACCTACCAGCAGGGTGTGGTGGCTCCCGCCTGTAATCCCAGCACTCTGGGAGGCCGAGGCAGGTGGATCATGAGGTCGAGTTTGAGACCAGCCTGGCCAATACAGTGAAACCCCGTCTCTACTAAAAATGCAAAGTTAGCCGGGCATGGTAGCGCAGGCCTGTAGTCCCAGCTACTCAGGAGGCTGAGGCAGTAGAATCATTTGAACCAGGGAGGCAGAGATTGCAGTGAGCCGAGATTGCATGGCTGCACTCTAGCCTGGGTGACAGTGTGAGACTCTGTCTCAAAAAAAAAAAAAAAAGTACCTACCTCAGGTAGGGACTGAATAAACACGTGTAAGGCACTTTGGAAAAATACCTGGCATATATAGTAAGCAGTATGTTGGCCATTACCAAAGGCCCTGGGAATTCTGTACTGCTGCTCATGGGTGTAGTCGGTTCTAGAGGGGTGGGCAGGTGGGAGTAGCTGAGGAAGACAAGTGGCTGGAATGGTATCACATGATACACAGAAGTATCCTCAGTTCTGAATCTACCTTGGCCTCAAGGGCCCAGGAGAATAACTTTTCCCAGCTGACAGCCTCTCTGAGGACAATGACATATGAATGAGGATCAAAACGAGCTTTGGCCAGGCACTGTGGCGCTCACCTGTAATCCCACCATTTTGGGAGGCTGAGGCGGAGGACCGCCTGAGGCAAGGAATTCAGAACCACTCTGGGCAACATAATGACACTAAAAAAGACTATCTCTAATCAAGGCTAGAACCAAGGGAAGGCTAAGAATTGCCCAGTACTGTGCAACTACGAAAGCCCTACCCAAGGCCACCAGCCTTGTCTTCCTCTTTCCTCTGTCAGTTCAAAAAGAACAGAAACCTCCAGCTCTTTTACATAGCAGGTACCAGGCATTTATCAGAAGAGGCCAAGCTTCTGGTTCCCATGCAGCCCTTTGAATAGTGTGTCTAAACAAAAATAGGTGTCCAAGTAGTCACACTGAGACTTTAACTGGTAACCCAGCCTGTGGCGTCAGTCGCAGTGCTCTGGCCAACACTATAGCAGGGCTTATTCTTCTCCCTCAT
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Task1_train_878
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Gene MMACHC (metabolism of cobalamin associated C) on Chromosome 1 is impacted by this variant. Evaluate whether it is clinically benign or pathogenic and name the disorder if relevant.
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Pathogenic; Cobalamin C disease
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TGGCGGGGTTTTTCATTTTCATTGGTTCATTTGTAGTTGGATGAGGCCTGAAATTATTTGCTGTCAGTCAGTCCTTCAATAAATAAAATAATTCCCTGGGCCAGGCTCGGTGGCTCACGCCTATATAATCCCAGCACTTTGGAAGGCCGAGGCAGGTGGGTCCTAGCTGAGGCCAGGAGTTCGGAGACCAGCCTGGCCAACATGGCGAAACCCTGTCTCTACTAAAAATACAAAAACTAGCCAGGCGTGGTAGTGCACATCGTAATCCCAGCTGCTCGGGAGGCTGAGGCATGAGAATCACTTGAATCTGGGAGGCCAAAGTTGCAGTGGGCCAAGATCATGCCACTGCACTCCAGCCTGGGTGACAGAGCAAGACTCTGTCTCAAAAAATAATGAATTCCCTGTCAAATTCAGTTGAGTTGCTTATAAAAATGCATCACATAGCGTCAGTGAAAATTCACTGAATGAGTGAGATGGAGGCTGGGGCAAAAGTGTGAGGCCTGAAGGTTAAGGTGTGGGCCAGGCTGAGGCCTAGACTGGCCCTCTCCAGCCTGGCCTGAACTTTCTGTTTCAGGTGGCATGGTACAATGAACTCTTGCCTCCAGCCTTCCACCTACCGCTGCCAGGACCTACCCTGGCCTTCCTGGTACTCAGCACGCCTGCCATGTTTGACCGGGCCCTCAAGCCCTTCTTGCAGAGCTGCCACCTCCGAATGCTGACTGACCCAGTGGACCAGTGTGTGGCCTACCATCTGGGCCGTGTTAGAGAGGTGAGGAAGGCTCAGTTTTCCCCCAGCTCCCAAACCTACAGCTGCCTCCAGTTCCTCCACACTCAATGCAGGATCTAGACCTAGGGCTAGGAGCCACTTCAAAGGTGAAATGATACCCTAAAGCCAGGCTTGACATTCTGTGATCTTTCCTCATTCTGCCTTCTCACACACCCAGGTTCCACCACCCTCATCTAGCAGTCCCCCAGTGTGAAATAGTCTCACTCACCCTACACTGATGGGCAACTATATGAACCTCAGACCAGGTTTTCCTTGGCCTCCAAGTGGAATAGGAATGAGTCCAACATTCCCCAGGCATTGCTTTGTCCTAGACCTGCAAGCTTTATGCTGTCCTTTTGAGGACAGAACAATATTCTCCCAACACACACTCACATATACACATAACTATGTACATACCCACTGGATCTCCCCAAAGCTGACCATGCCTTCCTTCACACCAGGTGTTATGTATTTCCCTTCAAACATGTGCCCTTCTGGAAATAACTATAACTATGTCCACACTGGAGCCTCCCAAGTTAAGGTCATGTTTTCCCTTCTGAGGACAGGACCATGTTCACACACACAAAACAAACTAGGGCTCCCTCGGACAAGGTCATAACTCCCCTCATGCTGACAGTACCCTCTATTTTGTCCACTGTTCCAGAGCCTCCCAGAGCTGCAGATAGAAATCATTGCTGACTACGAGGTGCACCCCAACCGACGCCCCAAGATCCTGGCCCAGACAGCAGCCCATGTAGCTGGGGCTGCTTACTACTACCAACGACAAGATGTGGAGGCTGACCCATGGGGGAACCAGGTGAGAGGGAAAATGTAAATAGAGGCTGAGATAGACTGGTAAAGGCCTCTCCCTACCAGGTCCCACATTCCTCAGCCTTCCCTGGATGGATGTGACACAACCCAGAACAAATTAGCTTTGTTCTGGATGGGAGGCAGTCCTGTCACATGCGGTTGTCTAACTGGGTACTCGTGAGATCAGAAAACTTAGTCTGCAGAACTGTCTTAGGATACAGGGGGCACAGCAGTGTTAAGACTAGTGGTGAGACTAGGAAGCCCAGCCCTTCCCTGTGCTCAGAATAGTTTATGAAAGGGTTTGCCAAGAAAAGGACAGAGGTTTATGTAGTCAGTGTACACTGAGTGGGAAGTGAACAGGCCTAGCTTGCAATGATGGCAGTTGACTTGGTGCCAAGGGGACCTCCATGACCTTGCTTTTCTTCACCCTCTCCCCAGCGCATATCAGGTGTGTGCATACACCCCCGATTTGGGGGCTGGTTTGCCATCCGAGGGGTAGTGCTGCTGCCAGGGATAGAGGTGCCAGATCTGCCACCCAGAAAACCTCATGACTGTGTACCTACAAGAGCTGACCGTATCGCCCTACTCGAAGGCTTCAATTTCCACTGGCGTGATTGGACTTACCGGGATGCTGTGACACCCCAGGAGCGCTACTCAGAAGAGCAGAAGGCCTACTTCTCCACTCCACCTGCCCAACGATTGGCCCTATTGGGCTTGGCTCAGCCCTCAGAGAAGCCTAGTTCTCCCTCCCCGGACCTTCCCTTTACCACACCCGCCCCCAAGAAGCCTGGGAATCCCAGCAGAGCCCGGAGCTGGCTCAGCCCCAGGGTCTCACCACCTGCATCCCCTGGCCCTTGATTTTCTCCCATGTGGACCCTGATTTATGGTGGTACTTGCTAGGACTTAATTGGCTTTGGCAAAGCAAAAGGTTTTGAGTACAAGATTACTATTTTTGATAATATAGTAGAGATCTTCCATGAAGATAACAAGGCTCAAGGAAGTTAGGTTTGGCCAAGATAAAGGCCAGGGAACCAGAATTCCCATCTGCCTTCAAATGAGTTTTTTTTTTTTTTTTAGACAGAGTCTTACTCTGTCACCTAGGCTGGAGTGCAGTGGCACAGTCTCTACTCACTGCAACCTCTGCCTCCTGGGTTCAAGCAATTATCTGCCTCAGCCTCCTGAGTAGCTGGGATGACAGGTGCCTGCCACTACACCTGGCTAATTTTTTGTATTTTTAGTAGAGATGGGGTTTCATCATATTGGCCAGGCTGGTCTTTAACTCCTGACCTCGTGATCCACCCATCTTGGCCTCCCAAAGTCCTGGGATTACAGGAATGAGCCACCGCACCCAGCCAAGACTCTATCTGTTCCCATTTCTAAGCAGTTCCCCAAGATGTTGTTACAGGGCCTAAGGGGCAAATATCCTCTAAAGAGTACCTACCAGCAGGGTGTGGTGGCTCCCGCCTGTAATCCCAGCACTCTGGGAGGCCGAGGCAGGTGGATCATGAGGTCGAGTTTGAGACCAGCCTGGCCAATACAGTGAAACCCCGTCTCTACTAAAAATGCAAAGTTAGCCGGGCATGGTAGCGCAGGCCTGTAGTCCCAGCTACTCAGGAGGCTGAGGCAGTAGAATCATTTGAACCAGGGAGGCAGAGATTGCAGTGAGCCGAGATTGCATGGCTGCACTCTAGCCTGGGTGACAGTGTGAGACTCTGTCTCAAAAAAAAAAAAAAAAGTACCTACCTCAGGTAGGGACTGAATAAACACGTGTAAGGCACTTTGGAAAAATACCTGGCATATATAGTAAGCAGTATGTTGGCCATTACCAAAGGCCCTGGGAATTCTGTACTGCTGCTCATGGGTGTAGTCGGTTCTAGAGGGGTGGGCAGGTGGGAGTAGCTGAGGAAGACAAGTGGCTGGAATGGTATCACATGATACACAGAAGTATCCTCAGTTCTGAATCTACCTTGGCCTCAAGGGCCCAGGAGAATAACTTTTCCCAGCTGACAGCCTCTCTGAGGACAATGACATATGAATGAGGATCAAAACGAGCTTTGGCCAGGCACTGTGGCGCTCACCTGTAATCCCACCATTTTGGGAGGCTGAGGCGGAGGACCGCCTGAGGCAAGGAATTCAGAACCACTCTGGGCAACATAATGACACTAAAAAAGACTATCTCTAATCAAGGCTAGAACCAAGGGAAGGCTAAGAATTGCCCAGTACTGTGCAACTACGAAAGCCCTACCCAAGGCCACCAGCCTTGTCTTCCTCTTTCCTCTGTCAGTTCAAAAAGAACAGAAACCTCCAGCTCTTTTACATAGCAGGTACCAGGCATTTATCAGAAGAGGCCAAGCTTCTGGTTCCCATGCAGCCCTTTGAATAGTGTGTCTAAACAAAAATAGGTGTCCAAGTAGTCACACTGAGACTTTAACTGGTAACCCAGCCTGTGGCGTCAGTCGCAGTGCTCTGGCCAACACTATAGCAGGGCTTATTCTTCTCCCTCATGTGTAGTGAAACAAA
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TGGCGGGGTTTTTCATTTTCATTGGTTCATTTGTAGTTGGATGAGGCCTGAAATTATTTGCTGTCAGTCAGTCCTTCAATAAATAAAATAATTCCCTGGGCCAGGCTCGGTGGCTCACGCCTATATAATCCCAGCACTTTGGAAGGCCGAGGCAGGTGGGTCCTAGCTGAGGCCAGGAGTTCGGAGACCAGCCTGGCCAACATGGCGAAACCCTGTCTCTACTAAAAATACAAAAACTAGCCAGGCGTGGTAGTGCACATCGTAATCCCAGCTGCTCGGGAGGCTGAGGCATGAGAATCACTTGAATCTGGGAGGCCAAAGTTGCAGTGGGCCAAGATCATGCCACTGCACTCCAGCCTGGGTGACAGAGCAAGACTCTGTCTCAAAAAATAATGAATTCCCTGTCAAATTCAGTTGAGTTGCTTATAAAAATGCATCACATAGCGTCAGTGAAAATTCACTGAATGAGTGAGATGGAGGCTGGGGCAAAAGTGTGAGGCCTGAAGGTTAAGGTGTGGGCCAGGCTGAGGCCTAGACTGGCCCTCTCCAGCCTGGCCTGAACTTTCTGTTTCAGGTGGCATGGTACAATGAACTCTTGCCTCCAGCCTTCCACCTACCGCTGCCAGGACCTACCCTGGCCTTCCTGGTACTCAGCACGCCTGCCATGTTTGACCGGGCCCTCAAGCCCTTCTTGCAGAGCTGCCACCTCCGAATGCTGACTGACCCAGTGGACCAGTGTGTGGCCTACCATCTGGGCCGTGTTAGAGAGGTGAGGAAGGCTCAGTTTTCCCCCAGCTCCCAAACCTACAGCTGCCTCCAGTTCCTCCACACTCAATGCAGGATCTAGACCTAGGGCTAGGAGCCACTTCAAAGGTGAAATGATACCCTAAAGCCAGGCTTGACATTCTGTGATCTTTCCTCATTCTGCCTTCTCACACACCCAGGTTCCACCACCCTCATCTAGCAGTCCCCCAGTGTGAAATAGTCTCACTCACCCTACACTGATGGGCAACTATATGAACCTCAGACCAGGTTTTCCTTGGCCTCCAAGTGGAATAGGAATGAGTCCAACATTCCCCAGGCATTGCTTTGTCCTAGACCTGCAAGCTTTATGCTGTCCTTTTGAGGACAGAACAATATTCTCCCAACACACACTCACATATACACATAACTATGTACATACCCACTGGATCTCCCCAAAGCTGACCATGCCTTCCTTCACACCAGGTGTTATGTATTTCCCTTCAAACATGTGCCCTTCTGGAAATAACTATAACTATGTCCACACTGGAGCCTCCCAAGTTAAGGTCATGTTTTCCCTTCTGAGGACAGGACCATGTTCACACACACAAAACAAACTAGGGCTCCCTCGGACAAGGTCATAACTCCCCTCATGCTGACAGTACCCTCTATTTTGTCCACTGTTCCAGAGCCTCCCAGAGCTGCAGATAGAAATCATTGCTGACTACGAGGTGCACCCCAACCGACGCCCCAAGATCCTGGCCCAGACAGCAGCCCATGTAGCTGGGGCTGCTTACTACTACCAACGACAAGATGTGGAGGCTGACCCATGGGGGAACCAGGTGAGAGGGAAAATGTAAATAGAGGCTGAGATAGACTGGTAAAGGCCTCTCCCTACCAGGTCCCACATTCCTCAGCCTTCCCTGGATGGATGTGACACAACCCAGAACAAATTAGCTTTGTTCTGGATGGGAGGCAGTCCTGTCACATGCGGTTGTCTAACTGGGTACTCGTGAGATCAGAAAACTTAGTCTGCAGAACTGTCTTAGGATACAGGGGGCACAGCAGTGTTAAGACTAGTGGTGAGACTAGGAAGCCCAGCCCTTCCCTGTGCTCAGAATAGTTTATGAAAGGGTTTGCCAAGAAAAGGACAGAGGTTTATGTAGTCAGTGTACACTGAGTGGGAAGTGAACAGGCCTAGCTTGCAATGATGGCAGTTGACTTGGTGCCAAGGGGACCTCCATGACCTTGCTTTTCTTCACCCTCTCCCCAGCGCATATCAGGTGTGTGCATACACCCCCGATTTGAGGGCTGGTTTGCCATCCGAGGGGTAGTGCTGCTGCCAGGGATAGAGGTGCCAGATCTGCCACCCAGAAAACCTCATGACTGTGTACCTACAAGAGCTGACCGTATCGCCCTACTCGAAGGCTTCAATTTCCACTGGCGTGATTGGACTTACCGGGATGCTGTGACACCCCAGGAGCGCTACTCAGAAGAGCAGAAGGCCTACTTCTCCACTCCACCTGCCCAACGATTGGCCCTATTGGGCTTGGCTCAGCCCTCAGAGAAGCCTAGTTCTCCCTCCCCGGACCTTCCCTTTACCACACCCGCCCCCAAGAAGCCTGGGAATCCCAGCAGAGCCCGGAGCTGGCTCAGCCCCAGGGTCTCACCACCTGCATCCCCTGGCCCTTGATTTTCTCCCATGTGGACCCTGATTTATGGTGGTACTTGCTAGGACTTAATTGGCTTTGGCAAAGCAAAAGGTTTTGAGTACAAGATTACTATTTTTGATAATATAGTAGAGATCTTCCATGAAGATAACAAGGCTCAAGGAAGTTAGGTTTGGCCAAGATAAAGGCCAGGGAACCAGAATTCCCATCTGCCTTCAAATGAGTTTTTTTTTTTTTTTTAGACAGAGTCTTACTCTGTCACCTAGGCTGGAGTGCAGTGGCACAGTCTCTACTCACTGCAACCTCTGCCTCCTGGGTTCAAGCAATTATCTGCCTCAGCCTCCTGAGTAGCTGGGATGACAGGTGCCTGCCACTACACCTGGCTAATTTTTTGTATTTTTAGTAGAGATGGGGTTTCATCATATTGGCCAGGCTGGTCTTTAACTCCTGACCTCGTGATCCACCCATCTTGGCCTCCCAAAGTCCTGGGATTACAGGAATGAGCCACCGCACCCAGCCAAGACTCTATCTGTTCCCATTTCTAAGCAGTTCCCCAAGATGTTGTTACAGGGCCTAAGGGGCAAATATCCTCTAAAGAGTACCTACCAGCAGGGTGTGGTGGCTCCCGCCTGTAATCCCAGCACTCTGGGAGGCCGAGGCAGGTGGATCATGAGGTCGAGTTTGAGACCAGCCTGGCCAATACAGTGAAACCCCGTCTCTACTAAAAATGCAAAGTTAGCCGGGCATGGTAGCGCAGGCCTGTAGTCCCAGCTACTCAGGAGGCTGAGGCAGTAGAATCATTTGAACCAGGGAGGCAGAGATTGCAGTGAGCCGAGATTGCATGGCTGCACTCTAGCCTGGGTGACAGTGTGAGACTCTGTCTCAAAAAAAAAAAAAAAAGTACCTACCTCAGGTAGGGACTGAATAAACACGTGTAAGGCACTTTGGAAAAATACCTGGCATATATAGTAAGCAGTATGTTGGCCATTACCAAAGGCCCTGGGAATTCTGTACTGCTGCTCATGGGTGTAGTCGGTTCTAGAGGGGTGGGCAGGTGGGAGTAGCTGAGGAAGACAAGTGGCTGGAATGGTATCACATGATACACAGAAGTATCCTCAGTTCTGAATCTACCTTGGCCTCAAGGGCCCAGGAGAATAACTTTTCCCAGCTGACAGCCTCTCTGAGGACAATGACATATGAATGAGGATCAAAACGAGCTTTGGCCAGGCACTGTGGCGCTCACCTGTAATCCCACCATTTTGGGAGGCTGAGGCGGAGGACCGCCTGAGGCAAGGAATTCAGAACCACTCTGGGCAACATAATGACACTAAAAAAGACTATCTCTAATCAAGGCTAGAACCAAGGGAAGGCTAAGAATTGCCCAGTACTGTGCAACTACGAAAGCCCTACCCAAGGCCACCAGCCTTGTCTTCCTCTTTCCTCTGTCAGTTCAAAAAGAACAGAAACCTCCAGCTCTTTTACATAGCAGGTACCAGGCATTTATCAGAAGAGGCCAAGCTTCTGGTTCCCATGCAGCCCTTTGAATAGTGTGTCTAAACAAAAATAGGTGTCCAAGTAGTCACACTGAGACTTTAACTGGTAACCCAGCCTGTGGCGTCAGTCGCAGTGCTCTGGCCAACACTATAGCAGGGCTTATTCTTCTCCCTCATGTGTAGTGAAACAAA
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Task1_train_879
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This variant affects gene MMACHC (metabolism of cobalamin associated C) located on Chromosome 1. Evaluate its biological effect and specify any disease association.
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Pathogenic; Cobalamin C disease
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TCATTGGTTCATTTGTAGTTGGATGAGGCCTGAAATTATTTGCTGTCAGTCAGTCCTTCAATAAATAAAATAATTCCCTGGGCCAGGCTCGGTGGCTCACGCCTATATAATCCCAGCACTTTGGAAGGCCGAGGCAGGTGGGTCCTAGCTGAGGCCAGGAGTTCGGAGACCAGCCTGGCCAACATGGCGAAACCCTGTCTCTACTAAAAATACAAAAACTAGCCAGGCGTGGTAGTGCACATCGTAATCCCAGCTGCTCGGGAGGCTGAGGCATGAGAATCACTTGAATCTGGGAGGCCAAAGTTGCAGTGGGCCAAGATCATGCCACTGCACTCCAGCCTGGGTGACAGAGCAAGACTCTGTCTCAAAAAATAATGAATTCCCTGTCAAATTCAGTTGAGTTGCTTATAAAAATGCATCACATAGCGTCAGTGAAAATTCACTGAATGAGTGAGATGGAGGCTGGGGCAAAAGTGTGAGGCCTGAAGGTTAAGGTGTGGGCCAGGCTGAGGCCTAGACTGGCCCTCTCCAGCCTGGCCTGAACTTTCTGTTTCAGGTGGCATGGTACAATGAACTCTTGCCTCCAGCCTTCCACCTACCGCTGCCAGGACCTACCCTGGCCTTCCTGGTACTCAGCACGCCTGCCATGTTTGACCGGGCCCTCAAGCCCTTCTTGCAGAGCTGCCACCTCCGAATGCTGACTGACCCAGTGGACCAGTGTGTGGCCTACCATCTGGGCCGTGTTAGAGAGGTGAGGAAGGCTCAGTTTTCCCCCAGCTCCCAAACCTACAGCTGCCTCCAGTTCCTCCACACTCAATGCAGGATCTAGACCTAGGGCTAGGAGCCACTTCAAAGGTGAAATGATACCCTAAAGCCAGGCTTGACATTCTGTGATCTTTCCTCATTCTGCCTTCTCACACACCCAGGTTCCACCACCCTCATCTAGCAGTCCCCCAGTGTGAAATAGTCTCACTCACCCTACACTGATGGGCAACTATATGAACCTCAGACCAGGTTTTCCTTGGCCTCCAAGTGGAATAGGAATGAGTCCAACATTCCCCAGGCATTGCTTTGTCCTAGACCTGCAAGCTTTATGCTGTCCTTTTGAGGACAGAACAATATTCTCCCAACACACACTCACATATACACATAACTATGTACATACCCACTGGATCTCCCCAAAGCTGACCATGCCTTCCTTCACACCAGGTGTTATGTATTTCCCTTCAAACATGTGCCCTTCTGGAAATAACTATAACTATGTCCACACTGGAGCCTCCCAAGTTAAGGTCATGTTTTCCCTTCTGAGGACAGGACCATGTTCACACACACAAAACAAACTAGGGCTCCCTCGGACAAGGTCATAACTCCCCTCATGCTGACAGTACCCTCTATTTTGTCCACTGTTCCAGAGCCTCCCAGAGCTGCAGATAGAAATCATTGCTGACTACGAGGTGCACCCCAACCGACGCCCCAAGATCCTGGCCCAGACAGCAGCCCATGTAGCTGGGGCTGCTTACTACTACCAACGACAAGATGTGGAGGCTGACCCATGGGGGAACCAGGTGAGAGGGAAAATGTAAATAGAGGCTGAGATAGACTGGTAAAGGCCTCTCCCTACCAGGTCCCACATTCCTCAGCCTTCCCTGGATGGATGTGACACAACCCAGAACAAATTAGCTTTGTTCTGGATGGGAGGCAGTCCTGTCACATGCGGTTGTCTAACTGGGTACTCGTGAGATCAGAAAACTTAGTCTGCAGAACTGTCTTAGGATACAGGGGGCACAGCAGTGTTAAGACTAGTGGTGAGACTAGGAAGCCCAGCCCTTCCCTGTGCTCAGAATAGTTTATGAAAGGGTTTGCCAAGAAAAGGACAGAGGTTTATGTAGTCAGTGTACACTGAGTGGGAAGTGAACAGGCCTAGCTTGCAATGATGGCAGTTGACTTGGTGCCAAGGGGACCTCCATGACCTTGCTTTTCTTCACCCTCTCCCCAGCGCATATCAGGTGTGTGCATACACCCCCGATTTGGGGGCTGGTTTGCCATCCGAGGGGTAGTGCTGCTGCCAGGGATAGAGGTGCCAGATCTGCCACCCAGAAAACCTCATGACTGTGTACCTACAAGAGCTGACCGTATCGCCCTACTCGAAGGCTTCAATTTCCACTGGCGTGATTGGACTTACCGGGATGCTGTGACACCCCAGGAGCGCTACTCAGAAGAGCAGAAGGCCTACTTCTCCACTCCACCTGCCCAACGATTGGCCCTATTGGGCTTGGCTCAGCCCTCAGAGAAGCCTAGTTCTCCCTCCCCGGACCTTCCCTTTACCACACCCGCCCCCAAGAAGCCTGGGAATCCCAGCAGAGCCCGGAGCTGGCTCAGCCCCAGGGTCTCACCACCTGCATCCCCTGGCCCTTGATTTTCTCCCATGTGGACCCTGATTTATGGTGGTACTTGCTAGGACTTAATTGGCTTTGGCAAAGCAAAAGGTTTTGAGTACAAGATTACTATTTTTGATAATATAGTAGAGATCTTCCATGAAGATAACAAGGCTCAAGGAAGTTAGGTTTGGCCAAGATAAAGGCCAGGGAACCAGAATTCCCATCTGCCTTCAAATGAGTTTTTTTTTTTTTTTTAGACAGAGTCTTACTCTGTCACCTAGGCTGGAGTGCAGTGGCACAGTCTCTACTCACTGCAACCTCTGCCTCCTGGGTTCAAGCAATTATCTGCCTCAGCCTCCTGAGTAGCTGGGATGACAGGTGCCTGCCACTACACCTGGCTAATTTTTTGTATTTTTAGTAGAGATGGGGTTTCATCATATTGGCCAGGCTGGTCTTTAACTCCTGACCTCGTGATCCACCCATCTTGGCCTCCCAAAGTCCTGGGATTACAGGAATGAGCCACCGCACCCAGCCAAGACTCTATCTGTTCCCATTTCTAAGCAGTTCCCCAAGATGTTGTTACAGGGCCTAAGGGGCAAATATCCTCTAAAGAGTACCTACCAGCAGGGTGTGGTGGCTCCCGCCTGTAATCCCAGCACTCTGGGAGGCCGAGGCAGGTGGATCATGAGGTCGAGTTTGAGACCAGCCTGGCCAATACAGTGAAACCCCGTCTCTACTAAAAATGCAAAGTTAGCCGGGCATGGTAGCGCAGGCCTGTAGTCCCAGCTACTCAGGAGGCTGAGGCAGTAGAATCATTTGAACCAGGGAGGCAGAGATTGCAGTGAGCCGAGATTGCATGGCTGCACTCTAGCCTGGGTGACAGTGTGAGACTCTGTCTCAAAAAAAAAAAAAAAAGTACCTACCTCAGGTAGGGACTGAATAAACACGTGTAAGGCACTTTGGAAAAATACCTGGCATATATAGTAAGCAGTATGTTGGCCATTACCAAAGGCCCTGGGAATTCTGTACTGCTGCTCATGGGTGTAGTCGGTTCTAGAGGGGTGGGCAGGTGGGAGTAGCTGAGGAAGACAAGTGGCTGGAATGGTATCACATGATACACAGAAGTATCCTCAGTTCTGAATCTACCTTGGCCTCAAGGGCCCAGGAGAATAACTTTTCCCAGCTGACAGCCTCTCTGAGGACAATGACATATGAATGAGGATCAAAACGAGCTTTGGCCAGGCACTGTGGCGCTCACCTGTAATCCCACCATTTTGGGAGGCTGAGGCGGAGGACCGCCTGAGGCAAGGAATTCAGAACCACTCTGGGCAACATAATGACACTAAAAAAGACTATCTCTAATCAAGGCTAGAACCAAGGGAAGGCTAAGAATTGCCCAGTACTGTGCAACTACGAAAGCCCTACCCAAGGCCACCAGCCTTGTCTTCCTCTTTCCTCTGTCAGTTCAAAAAGAACAGAAACCTCCAGCTCTTTTACATAGCAGGTACCAGGCATTTATCAGAAGAGGCCAAGCTTCTGGTTCCCATGCAGCCCTTTGAATAGTGTGTCTAAACAAAAATAGGTGTCCAAGTAGTCACACTGAGACTTTAACTGGTAACCCAGCCTGTGGCGTCAGTCGCAGTGCTCTGGCCAACACTATAGCAGGGCTTATTCTTCTCCCTCATGTGTAGTGAAACAAAATGTAACACCTTGGGTTC
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TCATTGGTTCATTTGTAGTTGGATGAGGCCTGAAATTATTTGCTGTCAGTCAGTCCTTCAATAAATAAAATAATTCCCTGGGCCAGGCTCGGTGGCTCACGCCTATATAATCCCAGCACTTTGGAAGGCCGAGGCAGGTGGGTCCTAGCTGAGGCCAGGAGTTCGGAGACCAGCCTGGCCAACATGGCGAAACCCTGTCTCTACTAAAAATACAAAAACTAGCCAGGCGTGGTAGTGCACATCGTAATCCCAGCTGCTCGGGAGGCTGAGGCATGAGAATCACTTGAATCTGGGAGGCCAAAGTTGCAGTGGGCCAAGATCATGCCACTGCACTCCAGCCTGGGTGACAGAGCAAGACTCTGTCTCAAAAAATAATGAATTCCCTGTCAAATTCAGTTGAGTTGCTTATAAAAATGCATCACATAGCGTCAGTGAAAATTCACTGAATGAGTGAGATGGAGGCTGGGGCAAAAGTGTGAGGCCTGAAGGTTAAGGTGTGGGCCAGGCTGAGGCCTAGACTGGCCCTCTCCAGCCTGGCCTGAACTTTCTGTTTCAGGTGGCATGGTACAATGAACTCTTGCCTCCAGCCTTCCACCTACCGCTGCCAGGACCTACCCTGGCCTTCCTGGTACTCAGCACGCCTGCCATGTTTGACCGGGCCCTCAAGCCCTTCTTGCAGAGCTGCCACCTCCGAATGCTGACTGACCCAGTGGACCAGTGTGTGGCCTACCATCTGGGCCGTGTTAGAGAGGTGAGGAAGGCTCAGTTTTCCCCCAGCTCCCAAACCTACAGCTGCCTCCAGTTCCTCCACACTCAATGCAGGATCTAGACCTAGGGCTAGGAGCCACTTCAAAGGTGAAATGATACCCTAAAGCCAGGCTTGACATTCTGTGATCTTTCCTCATTCTGCCTTCTCACACACCCAGGTTCCACCACCCTCATCTAGCAGTCCCCCAGTGTGAAATAGTCTCACTCACCCTACACTGATGGGCAACTATATGAACCTCAGACCAGGTTTTCCTTGGCCTCCAAGTGGAATAGGAATGAGTCCAACATTCCCCAGGCATTGCTTTGTCCTAGACCTGCAAGCTTTATGCTGTCCTTTTGAGGACAGAACAATATTCTCCCAACACACACTCACATATACACATAACTATGTACATACCCACTGGATCTCCCCAAAGCTGACCATGCCTTCCTTCACACCAGGTGTTATGTATTTCCCTTCAAACATGTGCCCTTCTGGAAATAACTATAACTATGTCCACACTGGAGCCTCCCAAGTTAAGGTCATGTTTTCCCTTCTGAGGACAGGACCATGTTCACACACACAAAACAAACTAGGGCTCCCTCGGACAAGGTCATAACTCCCCTCATGCTGACAGTACCCTCTATTTTGTCCACTGTTCCAGAGCCTCCCAGAGCTGCAGATAGAAATCATTGCTGACTACGAGGTGCACCCCAACCGACGCCCCAAGATCCTGGCCCAGACAGCAGCCCATGTAGCTGGGGCTGCTTACTACTACCAACGACAAGATGTGGAGGCTGACCCATGGGGGAACCAGGTGAGAGGGAAAATGTAAATAGAGGCTGAGATAGACTGGTAAAGGCCTCTCCCTACCAGGTCCCACATTCCTCAGCCTTCCCTGGATGGATGTGACACAACCCAGAACAAATTAGCTTTGTTCTGGATGGGAGGCAGTCCTGTCACATGCGGTTGTCTAACTGGGTACTCGTGAGATCAGAAAACTTAGTCTGCAGAACTGTCTTAGGATACAGGGGGCACAGCAGTGTTAAGACTAGTGGTGAGACTAGGAAGCCCAGCCCTTCCCTGTGCTCAGAATAGTTTATGAAAGGGTTTGCCAAGAAAAGGACAGAGGTTTATGTAGTCAGTGTACACTGAGTGGGAAGTGAACAGGCCTAGCTTGCAATGATGGCAGTTGACTTGGTGCCAAGGGGACCTCCATGACCTTGCTTTTCTTCACCCTCTCCCCAGCGCATATCAGGTGTGTGCATACACCCCCGATTTGGGGGCTGGTTTGCCATCCAAGGGGTAGTGCTGCTGCCAGGGATAGAGGTGCCAGATCTGCCACCCAGAAAACCTCATGACTGTGTACCTACAAGAGCTGACCGTATCGCCCTACTCGAAGGCTTCAATTTCCACTGGCGTGATTGGACTTACCGGGATGCTGTGACACCCCAGGAGCGCTACTCAGAAGAGCAGAAGGCCTACTTCTCCACTCCACCTGCCCAACGATTGGCCCTATTGGGCTTGGCTCAGCCCTCAGAGAAGCCTAGTTCTCCCTCCCCGGACCTTCCCTTTACCACACCCGCCCCCAAGAAGCCTGGGAATCCCAGCAGAGCCCGGAGCTGGCTCAGCCCCAGGGTCTCACCACCTGCATCCCCTGGCCCTTGATTTTCTCCCATGTGGACCCTGATTTATGGTGGTACTTGCTAGGACTTAATTGGCTTTGGCAAAGCAAAAGGTTTTGAGTACAAGATTACTATTTTTGATAATATAGTAGAGATCTTCCATGAAGATAACAAGGCTCAAGGAAGTTAGGTTTGGCCAAGATAAAGGCCAGGGAACCAGAATTCCCATCTGCCTTCAAATGAGTTTTTTTTTTTTTTTTAGACAGAGTCTTACTCTGTCACCTAGGCTGGAGTGCAGTGGCACAGTCTCTACTCACTGCAACCTCTGCCTCCTGGGTTCAAGCAATTATCTGCCTCAGCCTCCTGAGTAGCTGGGATGACAGGTGCCTGCCACTACACCTGGCTAATTTTTTGTATTTTTAGTAGAGATGGGGTTTCATCATATTGGCCAGGCTGGTCTTTAACTCCTGACCTCGTGATCCACCCATCTTGGCCTCCCAAAGTCCTGGGATTACAGGAATGAGCCACCGCACCCAGCCAAGACTCTATCTGTTCCCATTTCTAAGCAGTTCCCCAAGATGTTGTTACAGGGCCTAAGGGGCAAATATCCTCTAAAGAGTACCTACCAGCAGGGTGTGGTGGCTCCCGCCTGTAATCCCAGCACTCTGGGAGGCCGAGGCAGGTGGATCATGAGGTCGAGTTTGAGACCAGCCTGGCCAATACAGTGAAACCCCGTCTCTACTAAAAATGCAAAGTTAGCCGGGCATGGTAGCGCAGGCCTGTAGTCCCAGCTACTCAGGAGGCTGAGGCAGTAGAATCATTTGAACCAGGGAGGCAGAGATTGCAGTGAGCCGAGATTGCATGGCTGCACTCTAGCCTGGGTGACAGTGTGAGACTCTGTCTCAAAAAAAAAAAAAAAAGTACCTACCTCAGGTAGGGACTGAATAAACACGTGTAAGGCACTTTGGAAAAATACCTGGCATATATAGTAAGCAGTATGTTGGCCATTACCAAAGGCCCTGGGAATTCTGTACTGCTGCTCATGGGTGTAGTCGGTTCTAGAGGGGTGGGCAGGTGGGAGTAGCTGAGGAAGACAAGTGGCTGGAATGGTATCACATGATACACAGAAGTATCCTCAGTTCTGAATCTACCTTGGCCTCAAGGGCCCAGGAGAATAACTTTTCCCAGCTGACAGCCTCTCTGAGGACAATGACATATGAATGAGGATCAAAACGAGCTTTGGCCAGGCACTGTGGCGCTCACCTGTAATCCCACCATTTTGGGAGGCTGAGGCGGAGGACCGCCTGAGGCAAGGAATTCAGAACCACTCTGGGCAACATAATGACACTAAAAAAGACTATCTCTAATCAAGGCTAGAACCAAGGGAAGGCTAAGAATTGCCCAGTACTGTGCAACTACGAAAGCCCTACCCAAGGCCACCAGCCTTGTCTTCCTCTTTCCTCTGTCAGTTCAAAAAGAACAGAAACCTCCAGCTCTTTTACATAGCAGGTACCAGGCATTTATCAGAAGAGGCCAAGCTTCTGGTTCCCATGCAGCCCTTTGAATAGTGTGTCTAAACAAAAATAGGTGTCCAAGTAGTCACACTGAGACTTTAACTGGTAACCCAGCCTGTGGCGTCAGTCGCAGTGCTCTGGCCAACACTATAGCAGGGCTTATTCTTCTCCCTCATGTGTAGTGAAACAAAATGTAACACCTTGGGTTC
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Task1_train_880
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Here is a mutation in MMACHC (metabolism of cobalamin associated C) on Chromosome 1. Determine whether it’s benign or pathogenic. If the latter, what disease does it cause?
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Pathogenic; Inborn genetic diseases
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TCATTGGTTCATTTGTAGTTGGATGAGGCCTGAAATTATTTGCTGTCAGTCAGTCCTTCAATAAATAAAATAATTCCCTGGGCCAGGCTCGGTGGCTCACGCCTATATAATCCCAGCACTTTGGAAGGCCGAGGCAGGTGGGTCCTAGCTGAGGCCAGGAGTTCGGAGACCAGCCTGGCCAACATGGCGAAACCCTGTCTCTACTAAAAATACAAAAACTAGCCAGGCGTGGTAGTGCACATCGTAATCCCAGCTGCTCGGGAGGCTGAGGCATGAGAATCACTTGAATCTGGGAGGCCAAAGTTGCAGTGGGCCAAGATCATGCCACTGCACTCCAGCCTGGGTGACAGAGCAAGACTCTGTCTCAAAAAATAATGAATTCCCTGTCAAATTCAGTTGAGTTGCTTATAAAAATGCATCACATAGCGTCAGTGAAAATTCACTGAATGAGTGAGATGGAGGCTGGGGCAAAAGTGTGAGGCCTGAAGGTTAAGGTGTGGGCCAGGCTGAGGCCTAGACTGGCCCTCTCCAGCCTGGCCTGAACTTTCTGTTTCAGGTGGCATGGTACAATGAACTCTTGCCTCCAGCCTTCCACCTACCGCTGCCAGGACCTACCCTGGCCTTCCTGGTACTCAGCACGCCTGCCATGTTTGACCGGGCCCTCAAGCCCTTCTTGCAGAGCTGCCACCTCCGAATGCTGACTGACCCAGTGGACCAGTGTGTGGCCTACCATCTGGGCCGTGTTAGAGAGGTGAGGAAGGCTCAGTTTTCCCCCAGCTCCCAAACCTACAGCTGCCTCCAGTTCCTCCACACTCAATGCAGGATCTAGACCTAGGGCTAGGAGCCACTTCAAAGGTGAAATGATACCCTAAAGCCAGGCTTGACATTCTGTGATCTTTCCTCATTCTGCCTTCTCACACACCCAGGTTCCACCACCCTCATCTAGCAGTCCCCCAGTGTGAAATAGTCTCACTCACCCTACACTGATGGGCAACTATATGAACCTCAGACCAGGTTTTCCTTGGCCTCCAAGTGGAATAGGAATGAGTCCAACATTCCCCAGGCATTGCTTTGTCCTAGACCTGCAAGCTTTATGCTGTCCTTTTGAGGACAGAACAATATTCTCCCAACACACACTCACATATACACATAACTATGTACATACCCACTGGATCTCCCCAAAGCTGACCATGCCTTCCTTCACACCAGGTGTTATGTATTTCCCTTCAAACATGTGCCCTTCTGGAAATAACTATAACTATGTCCACACTGGAGCCTCCCAAGTTAAGGTCATGTTTTCCCTTCTGAGGACAGGACCATGTTCACACACACAAAACAAACTAGGGCTCCCTCGGACAAGGTCATAACTCCCCTCATGCTGACAGTACCCTCTATTTTGTCCACTGTTCCAGAGCCTCCCAGAGCTGCAGATAGAAATCATTGCTGACTACGAGGTGCACCCCAACCGACGCCCCAAGATCCTGGCCCAGACAGCAGCCCATGTAGCTGGGGCTGCTTACTACTACCAACGACAAGATGTGGAGGCTGACCCATGGGGGAACCAGGTGAGAGGGAAAATGTAAATAGAGGCTGAGATAGACTGGTAAAGGCCTCTCCCTACCAGGTCCCACATTCCTCAGCCTTCCCTGGATGGATGTGACACAACCCAGAACAAATTAGCTTTGTTCTGGATGGGAGGCAGTCCTGTCACATGCGGTTGTCTAACTGGGTACTCGTGAGATCAGAAAACTTAGTCTGCAGAACTGTCTTAGGATACAGGGGGCACAGCAGTGTTAAGACTAGTGGTGAGACTAGGAAGCCCAGCCCTTCCCTGTGCTCAGAATAGTTTATGAAAGGGTTTGCCAAGAAAAGGACAGAGGTTTATGTAGTCAGTGTACACTGAGTGGGAAGTGAACAGGCCTAGCTTGCAATGATGGCAGTTGACTTGGTGCCAAGGGGACCTCCATGACCTTGCTTTTCTTCACCCTCTCCCCAGCGCATATCAGGTGTGTGCATACACCCCCGATTTGGGGGCTGGTTTGCCATCCGAGGGGTAGTGCTGCTGCCAGGGATAGAGGTGCCAGATCTGCCACCCAGAAAACCTCATGACTGTGTACCTACAAGAGCTGACCGTATCGCCCTACTCGAAGGCTTCAATTTCCACTGGCGTGATTGGACTTACCGGGATGCTGTGACACCCCAGGAGCGCTACTCAGAAGAGCAGAAGGCCTACTTCTCCACTCCACCTGCCCAACGATTGGCCCTATTGGGCTTGGCTCAGCCCTCAGAGAAGCCTAGTTCTCCCTCCCCGGACCTTCCCTTTACCACACCCGCCCCCAAGAAGCCTGGGAATCCCAGCAGAGCCCGGAGCTGGCTCAGCCCCAGGGTCTCACCACCTGCATCCCCTGGCCCTTGATTTTCTCCCATGTGGACCCTGATTTATGGTGGTACTTGCTAGGACTTAATTGGCTTTGGCAAAGCAAAAGGTTTTGAGTACAAGATTACTATTTTTGATAATATAGTAGAGATCTTCCATGAAGATAACAAGGCTCAAGGAAGTTAGGTTTGGCCAAGATAAAGGCCAGGGAACCAGAATTCCCATCTGCCTTCAAATGAGTTTTTTTTTTTTTTTTAGACAGAGTCTTACTCTGTCACCTAGGCTGGAGTGCAGTGGCACAGTCTCTACTCACTGCAACCTCTGCCTCCTGGGTTCAAGCAATTATCTGCCTCAGCCTCCTGAGTAGCTGGGATGACAGGTGCCTGCCACTACACCTGGCTAATTTTTTGTATTTTTAGTAGAGATGGGGTTTCATCATATTGGCCAGGCTGGTCTTTAACTCCTGACCTCGTGATCCACCCATCTTGGCCTCCCAAAGTCCTGGGATTACAGGAATGAGCCACCGCACCCAGCCAAGACTCTATCTGTTCCCATTTCTAAGCAGTTCCCCAAGATGTTGTTACAGGGCCTAAGGGGCAAATATCCTCTAAAGAGTACCTACCAGCAGGGTGTGGTGGCTCCCGCCTGTAATCCCAGCACTCTGGGAGGCCGAGGCAGGTGGATCATGAGGTCGAGTTTGAGACCAGCCTGGCCAATACAGTGAAACCCCGTCTCTACTAAAAATGCAAAGTTAGCCGGGCATGGTAGCGCAGGCCTGTAGTCCCAGCTACTCAGGAGGCTGAGGCAGTAGAATCATTTGAACCAGGGAGGCAGAGATTGCAGTGAGCCGAGATTGCATGGCTGCACTCTAGCCTGGGTGACAGTGTGAGACTCTGTCTCAAAAAAAAAAAAAAAAGTACCTACCTCAGGTAGGGACTGAATAAACACGTGTAAGGCACTTTGGAAAAATACCTGGCATATATAGTAAGCAGTATGTTGGCCATTACCAAAGGCCCTGGGAATTCTGTACTGCTGCTCATGGGTGTAGTCGGTTCTAGAGGGGTGGGCAGGTGGGAGTAGCTGAGGAAGACAAGTGGCTGGAATGGTATCACATGATACACAGAAGTATCCTCAGTTCTGAATCTACCTTGGCCTCAAGGGCCCAGGAGAATAACTTTTCCCAGCTGACAGCCTCTCTGAGGACAATGACATATGAATGAGGATCAAAACGAGCTTTGGCCAGGCACTGTGGCGCTCACCTGTAATCCCACCATTTTGGGAGGCTGAGGCGGAGGACCGCCTGAGGCAAGGAATTCAGAACCACTCTGGGCAACATAATGACACTAAAAAAGACTATCTCTAATCAAGGCTAGAACCAAGGGAAGGCTAAGAATTGCCCAGTACTGTGCAACTACGAAAGCCCTACCCAAGGCCACCAGCCTTGTCTTCCTCTTTCCTCTGTCAGTTCAAAAAGAACAGAAACCTCCAGCTCTTTTACATAGCAGGTACCAGGCATTTATCAGAAGAGGCCAAGCTTCTGGTTCCCATGCAGCCCTTTGAATAGTGTGTCTAAACAAAAATAGGTGTCCAAGTAGTCACACTGAGACTTTAACTGGTAACCCAGCCTGTGGCGTCAGTCGCAGTGCTCTGGCCAACACTATAGCAGGGCTTATTCTTCTCCCTCATGTGTAGTGAAACAAAATGTAACACCTTGGGTTC
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TCATTGGTTCATTTGTAGTTGGATGAGGCCTGAAATTATTTGCTGTCAGTCAGTCCTTCAATAAATAAAATAATTCCCTGGGCCAGGCTCGGTGGCTCACGCCTATATAATCCCAGCACTTTGGAAGGCCGAGGCAGGTGGGTCCTAGCTGAGGCCAGGAGTTCGGAGACCAGCCTGGCCAACATGGCGAAACCCTGTCTCTACTAAAAATACAAAAACTAGCCAGGCGTGGTAGTGCACATCGTAATCCCAGCTGCTCGGGAGGCTGAGGCATGAGAATCACTTGAATCTGGGAGGCCAAAGTTGCAGTGGGCCAAGATCATGCCACTGCACTCCAGCCTGGGTGACAGAGCAAGACTCTGTCTCAAAAAATAATGAATTCCCTGTCAAATTCAGTTGAGTTGCTTATAAAAATGCATCACATAGCGTCAGTGAAAATTCACTGAATGAGTGAGATGGAGGCTGGGGCAAAAGTGTGAGGCCTGAAGGTTAAGGTGTGGGCCAGGCTGAGGCCTAGACTGGCCCTCTCCAGCCTGGCCTGAACTTTCTGTTTCAGGTGGCATGGTACAATGAACTCTTGCCTCCAGCCTTCCACCTACCGCTGCCAGGACCTACCCTGGCCTTCCTGGTACTCAGCACGCCTGCCATGTTTGACCGGGCCCTCAAGCCCTTCTTGCAGAGCTGCCACCTCCGAATGCTGACTGACCCAGTGGACCAGTGTGTGGCCTACCATCTGGGCCGTGTTAGAGAGGTGAGGAAGGCTCAGTTTTCCCCCAGCTCCCAAACCTACAGCTGCCTCCAGTTCCTCCACACTCAATGCAGGATCTAGACCTAGGGCTAGGAGCCACTTCAAAGGTGAAATGATACCCTAAAGCCAGGCTTGACATTCTGTGATCTTTCCTCATTCTGCCTTCTCACACACCCAGGTTCCACCACCCTCATCTAGCAGTCCCCCAGTGTGAAATAGTCTCACTCACCCTACACTGATGGGCAACTATATGAACCTCAGACCAGGTTTTCCTTGGCCTCCAAGTGGAATAGGAATGAGTCCAACATTCCCCAGGCATTGCTTTGTCCTAGACCTGCAAGCTTTATGCTGTCCTTTTGAGGACAGAACAATATTCTCCCAACACACACTCACATATACACATAACTATGTACATACCCACTGGATCTCCCCAAAGCTGACCATGCCTTCCTTCACACCAGGTGTTATGTATTTCCCTTCAAACATGTGCCCTTCTGGAAATAACTATAACTATGTCCACACTGGAGCCTCCCAAGTTAAGGTCATGTTTTCCCTTCTGAGGACAGGACCATGTTCACACACACAAAACAAACTAGGGCTCCCTCGGACAAGGTCATAACTCCCCTCATGCTGACAGTACCCTCTATTTTGTCCACTGTTCCAGAGCCTCCCAGAGCTGCAGATAGAAATCATTGCTGACTACGAGGTGCACCCCAACCGACGCCCCAAGATCCTGGCCCAGACAGCAGCCCATGTAGCTGGGGCTGCTTACTACTACCAACGACAAGATGTGGAGGCTGACCCATGGGGGAACCAGGTGAGAGGGAAAATGTAAATAGAGGCTGAGATAGACTGGTAAAGGCCTCTCCCTACCAGGTCCCACATTCCTCAGCCTTCCCTGGATGGATGTGACACAACCCAGAACAAATTAGCTTTGTTCTGGATGGGAGGCAGTCCTGTCACATGCGGTTGTCTAACTGGGTACTCGTGAGATCAGAAAACTTAGTCTGCAGAACTGTCTTAGGATACAGGGGGCACAGCAGTGTTAAGACTAGTGGTGAGACTAGGAAGCCCAGCCCTTCCCTGTGCTCAGAATAGTTTATGAAAGGGTTTGCCAAGAAAAGGACAGAGGTTTATGTAGTCAGTGTACACTGAGTGGGAAGTGAACAGGCCTAGCTTGCAATGATGGCAGTTGACTTGGTGCCAAGGGGACCTCCATGACCTTGCTTTTCTTCACCCTCTCCCCAGCGCATATCAGGTGTGTGCATACACCCCCGATTTGGGGGCTGGTTTGCCATCCAAGGGGTAGTGCTGCTGCCAGGGATAGAGGTGCCAGATCTGCCACCCAGAAAACCTCATGACTGTGTACCTACAAGAGCTGACCGTATCGCCCTACTCGAAGGCTTCAATTTCCACTGGCGTGATTGGACTTACCGGGATGCTGTGACACCCCAGGAGCGCTACTCAGAAGAGCAGAAGGCCTACTTCTCCACTCCACCTGCCCAACGATTGGCCCTATTGGGCTTGGCTCAGCCCTCAGAGAAGCCTAGTTCTCCCTCCCCGGACCTTCCCTTTACCACACCCGCCCCCAAGAAGCCTGGGAATCCCAGCAGAGCCCGGAGCTGGCTCAGCCCCAGGGTCTCACCACCTGCATCCCCTGGCCCTTGATTTTCTCCCATGTGGACCCTGATTTATGGTGGTACTTGCTAGGACTTAATTGGCTTTGGCAAAGCAAAAGGTTTTGAGTACAAGATTACTATTTTTGATAATATAGTAGAGATCTTCCATGAAGATAACAAGGCTCAAGGAAGTTAGGTTTGGCCAAGATAAAGGCCAGGGAACCAGAATTCCCATCTGCCTTCAAATGAGTTTTTTTTTTTTTTTTAGACAGAGTCTTACTCTGTCACCTAGGCTGGAGTGCAGTGGCACAGTCTCTACTCACTGCAACCTCTGCCTCCTGGGTTCAAGCAATTATCTGCCTCAGCCTCCTGAGTAGCTGGGATGACAGGTGCCTGCCACTACACCTGGCTAATTTTTTGTATTTTTAGTAGAGATGGGGTTTCATCATATTGGCCAGGCTGGTCTTTAACTCCTGACCTCGTGATCCACCCATCTTGGCCTCCCAAAGTCCTGGGATTACAGGAATGAGCCACCGCACCCAGCCAAGACTCTATCTGTTCCCATTTCTAAGCAGTTCCCCAAGATGTTGTTACAGGGCCTAAGGGGCAAATATCCTCTAAAGAGTACCTACCAGCAGGGTGTGGTGGCTCCCGCCTGTAATCCCAGCACTCTGGGAGGCCGAGGCAGGTGGATCATGAGGTCGAGTTTGAGACCAGCCTGGCCAATACAGTGAAACCCCGTCTCTACTAAAAATGCAAAGTTAGCCGGGCATGGTAGCGCAGGCCTGTAGTCCCAGCTACTCAGGAGGCTGAGGCAGTAGAATCATTTGAACCAGGGAGGCAGAGATTGCAGTGAGCCGAGATTGCATGGCTGCACTCTAGCCTGGGTGACAGTGTGAGACTCTGTCTCAAAAAAAAAAAAAAAAGTACCTACCTCAGGTAGGGACTGAATAAACACGTGTAAGGCACTTTGGAAAAATACCTGGCATATATAGTAAGCAGTATGTTGGCCATTACCAAAGGCCCTGGGAATTCTGTACTGCTGCTCATGGGTGTAGTCGGTTCTAGAGGGGTGGGCAGGTGGGAGTAGCTGAGGAAGACAAGTGGCTGGAATGGTATCACATGATACACAGAAGTATCCTCAGTTCTGAATCTACCTTGGCCTCAAGGGCCCAGGAGAATAACTTTTCCCAGCTGACAGCCTCTCTGAGGACAATGACATATGAATGAGGATCAAAACGAGCTTTGGCCAGGCACTGTGGCGCTCACCTGTAATCCCACCATTTTGGGAGGCTGAGGCGGAGGACCGCCTGAGGCAAGGAATTCAGAACCACTCTGGGCAACATAATGACACTAAAAAAGACTATCTCTAATCAAGGCTAGAACCAAGGGAAGGCTAAGAATTGCCCAGTACTGTGCAACTACGAAAGCCCTACCCAAGGCCACCAGCCTTGTCTTCCTCTTTCCTCTGTCAGTTCAAAAAGAACAGAAACCTCCAGCTCTTTTACATAGCAGGTACCAGGCATTTATCAGAAGAGGCCAAGCTTCTGGTTCCCATGCAGCCCTTTGAATAGTGTGTCTAAACAAAAATAGGTGTCCAAGTAGTCACACTGAGACTTTAACTGGTAACCCAGCCTGTGGCGTCAGTCGCAGTGCTCTGGCCAACACTATAGCAGGGCTTATTCTTCTCCCTCATGTGTAGTGAAACAAAATGTAACACCTTGGGTTC
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Task1_train_881
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Gene MMACHC (metabolism of cobalamin associated C) on Chromosome 1 is impacted by this variant. Evaluate whether it is clinically benign or pathogenic and name the disorder if relevant.
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Pathogenic; Cobalamin C disease
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TCACGCCTATATAATCCCAGCACTTTGGAAGGCCGAGGCAGGTGGGTCCTAGCTGAGGCCAGGAGTTCGGAGACCAGCCTGGCCAACATGGCGAAACCCTGTCTCTACTAAAAATACAAAAACTAGCCAGGCGTGGTAGTGCACATCGTAATCCCAGCTGCTCGGGAGGCTGAGGCATGAGAATCACTTGAATCTGGGAGGCCAAAGTTGCAGTGGGCCAAGATCATGCCACTGCACTCCAGCCTGGGTGACAGAGCAAGACTCTGTCTCAAAAAATAATGAATTCCCTGTCAAATTCAGTTGAGTTGCTTATAAAAATGCATCACATAGCGTCAGTGAAAATTCACTGAATGAGTGAGATGGAGGCTGGGGCAAAAGTGTGAGGCCTGAAGGTTAAGGTGTGGGCCAGGCTGAGGCCTAGACTGGCCCTCTCCAGCCTGGCCTGAACTTTCTGTTTCAGGTGGCATGGTACAATGAACTCTTGCCTCCAGCCTTCCACCTACCGCTGCCAGGACCTACCCTGGCCTTCCTGGTACTCAGCACGCCTGCCATGTTTGACCGGGCCCTCAAGCCCTTCTTGCAGAGCTGCCACCTCCGAATGCTGACTGACCCAGTGGACCAGTGTGTGGCCTACCATCTGGGCCGTGTTAGAGAGGTGAGGAAGGCTCAGTTTTCCCCCAGCTCCCAAACCTACAGCTGCCTCCAGTTCCTCCACACTCAATGCAGGATCTAGACCTAGGGCTAGGAGCCACTTCAAAGGTGAAATGATACCCTAAAGCCAGGCTTGACATTCTGTGATCTTTCCTCATTCTGCCTTCTCACACACCCAGGTTCCACCACCCTCATCTAGCAGTCCCCCAGTGTGAAATAGTCTCACTCACCCTACACTGATGGGCAACTATATGAACCTCAGACCAGGTTTTCCTTGGCCTCCAAGTGGAATAGGAATGAGTCCAACATTCCCCAGGCATTGCTTTGTCCTAGACCTGCAAGCTTTATGCTGTCCTTTTGAGGACAGAACAATATTCTCCCAACACACACTCACATATACACATAACTATGTACATACCCACTGGATCTCCCCAAAGCTGACCATGCCTTCCTTCACACCAGGTGTTATGTATTTCCCTTCAAACATGTGCCCTTCTGGAAATAACTATAACTATGTCCACACTGGAGCCTCCCAAGTTAAGGTCATGTTTTCCCTTCTGAGGACAGGACCATGTTCACACACACAAAACAAACTAGGGCTCCCTCGGACAAGGTCATAACTCCCCTCATGCTGACAGTACCCTCTATTTTGTCCACTGTTCCAGAGCCTCCCAGAGCTGCAGATAGAAATCATTGCTGACTACGAGGTGCACCCCAACCGACGCCCCAAGATCCTGGCCCAGACAGCAGCCCATGTAGCTGGGGCTGCTTACTACTACCAACGACAAGATGTGGAGGCTGACCCATGGGGGAACCAGGTGAGAGGGAAAATGTAAATAGAGGCTGAGATAGACTGGTAAAGGCCTCTCCCTACCAGGTCCCACATTCCTCAGCCTTCCCTGGATGGATGTGACACAACCCAGAACAAATTAGCTTTGTTCTGGATGGGAGGCAGTCCTGTCACATGCGGTTGTCTAACTGGGTACTCGTGAGATCAGAAAACTTAGTCTGCAGAACTGTCTTAGGATACAGGGGGCACAGCAGTGTTAAGACTAGTGGTGAGACTAGGAAGCCCAGCCCTTCCCTGTGCTCAGAATAGTTTATGAAAGGGTTTGCCAAGAAAAGGACAGAGGTTTATGTAGTCAGTGTACACTGAGTGGGAAGTGAACAGGCCTAGCTTGCAATGATGGCAGTTGACTTGGTGCCAAGGGGACCTCCATGACCTTGCTTTTCTTCACCCTCTCCCCAGCGCATATCAGGTGTGTGCATACACCCCCGATTTGGGGGCTGGTTTGCCATCCGAGGGGTAGTGCTGCTGCCAGGGATAGAGGTGCCAGATCTGCCACCCAGAAAACCTCATGACTGTGTACCTACAAGAGCTGACCGTATCGCCCTACTCGAAGGCTTCAATTTCCACTGGCGTGATTGGACTTACCGGGATGCTGTGACACCCCAGGAGCGCTACTCAGAAGAGCAGAAGGCCTACTTCTCCACTCCACCTGCCCAACGATTGGCCCTATTGGGCTTGGCTCAGCCCTCAGAGAAGCCTAGTTCTCCCTCCCCGGACCTTCCCTTTACCACACCCGCCCCCAAGAAGCCTGGGAATCCCAGCAGAGCCCGGAGCTGGCTCAGCCCCAGGGTCTCACCACCTGCATCCCCTGGCCCTTGATTTTCTCCCATGTGGACCCTGATTTATGGTGGTACTTGCTAGGACTTAATTGGCTTTGGCAAAGCAAAAGGTTTTGAGTACAAGATTACTATTTTTGATAATATAGTAGAGATCTTCCATGAAGATAACAAGGCTCAAGGAAGTTAGGTTTGGCCAAGATAAAGGCCAGGGAACCAGAATTCCCATCTGCCTTCAAATGAGTTTTTTTTTTTTTTTTAGACAGAGTCTTACTCTGTCACCTAGGCTGGAGTGCAGTGGCACAGTCTCTACTCACTGCAACCTCTGCCTCCTGGGTTCAAGCAATTATCTGCCTCAGCCTCCTGAGTAGCTGGGATGACAGGTGCCTGCCACTACACCTGGCTAATTTTTTGTATTTTTAGTAGAGATGGGGTTTCATCATATTGGCCAGGCTGGTCTTTAACTCCTGACCTCGTGATCCACCCATCTTGGCCTCCCAAAGTCCTGGGATTACAGGAATGAGCCACCGCACCCAGCCAAGACTCTATCTGTTCCCATTTCTAAGCAGTTCCCCAAGATGTTGTTACAGGGCCTAAGGGGCAAATATCCTCTAAAGAGTACCTACCAGCAGGGTGTGGTGGCTCCCGCCTGTAATCCCAGCACTCTGGGAGGCCGAGGCAGGTGGATCATGAGGTCGAGTTTGAGACCAGCCTGGCCAATACAGTGAAACCCCGTCTCTACTAAAAATGCAAAGTTAGCCGGGCATGGTAGCGCAGGCCTGTAGTCCCAGCTACTCAGGAGGCTGAGGCAGTAGAATCATTTGAACCAGGGAGGCAGAGATTGCAGTGAGCCGAGATTGCATGGCTGCACTCTAGCCTGGGTGACAGTGTGAGACTCTGTCTCAAAAAAAAAAAAAAAAGTACCTACCTCAGGTAGGGACTGAATAAACACGTGTAAGGCACTTTGGAAAAATACCTGGCATATATAGTAAGCAGTATGTTGGCCATTACCAAAGGCCCTGGGAATTCTGTACTGCTGCTCATGGGTGTAGTCGGTTCTAGAGGGGTGGGCAGGTGGGAGTAGCTGAGGAAGACAAGTGGCTGGAATGGTATCACATGATACACAGAAGTATCCTCAGTTCTGAATCTACCTTGGCCTCAAGGGCCCAGGAGAATAACTTTTCCCAGCTGACAGCCTCTCTGAGGACAATGACATATGAATGAGGATCAAAACGAGCTTTGGCCAGGCACTGTGGCGCTCACCTGTAATCCCACCATTTTGGGAGGCTGAGGCGGAGGACCGCCTGAGGCAAGGAATTCAGAACCACTCTGGGCAACATAATGACACTAAAAAAGACTATCTCTAATCAAGGCTAGAACCAAGGGAAGGCTAAGAATTGCCCAGTACTGTGCAACTACGAAAGCCCTACCCAAGGCCACCAGCCTTGTCTTCCTCTTTCCTCTGTCAGTTCAAAAAGAACAGAAACCTCCAGCTCTTTTACATAGCAGGTACCAGGCATTTATCAGAAGAGGCCAAGCTTCTGGTTCCCATGCAGCCCTTTGAATAGTGTGTCTAAACAAAAATAGGTGTCCAAGTAGTCACACTGAGACTTTAACTGGTAACCCAGCCTGTGGCGTCAGTCGCAGTGCTCTGGCCAACACTATAGCAGGGCTTATTCTTCTCCCTCATGTGTAGTGAAACAAAATGTAACACCTTGGGTTCATTCAGTTCCATTCCCTATATCTACCTGTGTCAATATAATTCCCTGATTTGGAGGCAGCTCTCCTCATTTTCCCCAAAACAGGGAAAGCAAGGAGT
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TCACGCCTATATAATCCCAGCACTTTGGAAGGCCGAGGCAGGTGGGTCCTAGCTGAGGCCAGGAGTTCGGAGACCAGCCTGGCCAACATGGCGAAACCCTGTCTCTACTAAAAATACAAAAACTAGCCAGGCGTGGTAGTGCACATCGTAATCCCAGCTGCTCGGGAGGCTGAGGCATGAGAATCACTTGAATCTGGGAGGCCAAAGTTGCAGTGGGCCAAGATCATGCCACTGCACTCCAGCCTGGGTGACAGAGCAAGACTCTGTCTCAAAAAATAATGAATTCCCTGTCAAATTCAGTTGAGTTGCTTATAAAAATGCATCACATAGCGTCAGTGAAAATTCACTGAATGAGTGAGATGGAGGCTGGGGCAAAAGTGTGAGGCCTGAAGGTTAAGGTGTGGGCCAGGCTGAGGCCTAGACTGGCCCTCTCCAGCCTGGCCTGAACTTTCTGTTTCAGGTGGCATGGTACAATGAACTCTTGCCTCCAGCCTTCCACCTACCGCTGCCAGGACCTACCCTGGCCTTCCTGGTACTCAGCACGCCTGCCATGTTTGACCGGGCCCTCAAGCCCTTCTTGCAGAGCTGCCACCTCCGAATGCTGACTGACCCAGTGGACCAGTGTGTGGCCTACCATCTGGGCCGTGTTAGAGAGGTGAGGAAGGCTCAGTTTTCCCCCAGCTCCCAAACCTACAGCTGCCTCCAGTTCCTCCACACTCAATGCAGGATCTAGACCTAGGGCTAGGAGCCACTTCAAAGGTGAAATGATACCCTAAAGCCAGGCTTGACATTCTGTGATCTTTCCTCATTCTGCCTTCTCACACACCCAGGTTCCACCACCCTCATCTAGCAGTCCCCCAGTGTGAAATAGTCTCACTCACCCTACACTGATGGGCAACTATATGAACCTCAGACCAGGTTTTCCTTGGCCTCCAAGTGGAATAGGAATGAGTCCAACATTCCCCAGGCATTGCTTTGTCCTAGACCTGCAAGCTTTATGCTGTCCTTTTGAGGACAGAACAATATTCTCCCAACACACACTCACATATACACATAACTATGTACATACCCACTGGATCTCCCCAAAGCTGACCATGCCTTCCTTCACACCAGGTGTTATGTATTTCCCTTCAAACATGTGCCCTTCTGGAAATAACTATAACTATGTCCACACTGGAGCCTCCCAAGTTAAGGTCATGTTTTCCCTTCTGAGGACAGGACCATGTTCACACACACAAAACAAACTAGGGCTCCCTCGGACAAGGTCATAACTCCCCTCATGCTGACAGTACCCTCTATTTTGTCCACTGTTCCAGAGCCTCCCAGAGCTGCAGATAGAAATCATTGCTGACTACGAGGTGCACCCCAACCGACGCCCCAAGATCCTGGCCCAGACAGCAGCCCATGTAGCTGGGGCTGCTTACTACTACCAACGACAAGATGTGGAGGCTGACCCATGGGGGAACCAGGTGAGAGGGAAAATGTAAATAGAGGCTGAGATAGACTGGTAAAGGCCTCTCCCTACCAGGTCCCACATTCCTCAGCCTTCCCTGGATGGATGTGACACAACCCAGAACAAATTAGCTTTGTTCTGGATGGGAGGCAGTCCTGTCACATGCGGTTGTCTAACTGGGTACTCGTGAGATCAGAAAACTTAGTCTGCAGAACTGTCTTAGGATACAGGGGGCACAGCAGTGTTAAGACTAGTGGTGAGACTAGGAAGCCCAGCCCTTCCCTGTGCTCAGAATAGTTTATGAAAGGGTTTGCCAAGAAAAGGACAGAGGTTTATGTAGTCAGTGTACACTGAGTGGGAAGTGAACAGGCCTAGCTTGCAATGATGGCAGTTGACTTGGTGCCAAGGGGACCTCCATGACCTTGCTTTTCTTCACCCTCTCCCCAGCGCATATCAGGTGTGTGCATACACCCCCGATTTGGGGGCTGGTTTGCCATCCGAGGGGTAGTGCTGCTGCCAGGGATAGAGGTGCCAGATCTGCCACCCAGAAAACCTCATGACTGTGTACCTACAAGAGCTGACCGTATCGCCCTACCCGAAGGCTTCAATTTCCACTGGCGTGATTGGACTTACCGGGATGCTGTGACACCCCAGGAGCGCTACTCAGAAGAGCAGAAGGCCTACTTCTCCACTCCACCTGCCCAACGATTGGCCCTATTGGGCTTGGCTCAGCCCTCAGAGAAGCCTAGTTCTCCCTCCCCGGACCTTCCCTTTACCACACCCGCCCCCAAGAAGCCTGGGAATCCCAGCAGAGCCCGGAGCTGGCTCAGCCCCAGGGTCTCACCACCTGCATCCCCTGGCCCTTGATTTTCTCCCATGTGGACCCTGATTTATGGTGGTACTTGCTAGGACTTAATTGGCTTTGGCAAAGCAAAAGGTTTTGAGTACAAGATTACTATTTTTGATAATATAGTAGAGATCTTCCATGAAGATAACAAGGCTCAAGGAAGTTAGGTTTGGCCAAGATAAAGGCCAGGGAACCAGAATTCCCATCTGCCTTCAAATGAGTTTTTTTTTTTTTTTTAGACAGAGTCTTACTCTGTCACCTAGGCTGGAGTGCAGTGGCACAGTCTCTACTCACTGCAACCTCTGCCTCCTGGGTTCAAGCAATTATCTGCCTCAGCCTCCTGAGTAGCTGGGATGACAGGTGCCTGCCACTACACCTGGCTAATTTTTTGTATTTTTAGTAGAGATGGGGTTTCATCATATTGGCCAGGCTGGTCTTTAACTCCTGACCTCGTGATCCACCCATCTTGGCCTCCCAAAGTCCTGGGATTACAGGAATGAGCCACCGCACCCAGCCAAGACTCTATCTGTTCCCATTTCTAAGCAGTTCCCCAAGATGTTGTTACAGGGCCTAAGGGGCAAATATCCTCTAAAGAGTACCTACCAGCAGGGTGTGGTGGCTCCCGCCTGTAATCCCAGCACTCTGGGAGGCCGAGGCAGGTGGATCATGAGGTCGAGTTTGAGACCAGCCTGGCCAATACAGTGAAACCCCGTCTCTACTAAAAATGCAAAGTTAGCCGGGCATGGTAGCGCAGGCCTGTAGTCCCAGCTACTCAGGAGGCTGAGGCAGTAGAATCATTTGAACCAGGGAGGCAGAGATTGCAGTGAGCCGAGATTGCATGGCTGCACTCTAGCCTGGGTGACAGTGTGAGACTCTGTCTCAAAAAAAAAAAAAAAAGTACCTACCTCAGGTAGGGACTGAATAAACACGTGTAAGGCACTTTGGAAAAATACCTGGCATATATAGTAAGCAGTATGTTGGCCATTACCAAAGGCCCTGGGAATTCTGTACTGCTGCTCATGGGTGTAGTCGGTTCTAGAGGGGTGGGCAGGTGGGAGTAGCTGAGGAAGACAAGTGGCTGGAATGGTATCACATGATACACAGAAGTATCCTCAGTTCTGAATCTACCTTGGCCTCAAGGGCCCAGGAGAATAACTTTTCCCAGCTGACAGCCTCTCTGAGGACAATGACATATGAATGAGGATCAAAACGAGCTTTGGCCAGGCACTGTGGCGCTCACCTGTAATCCCACCATTTTGGGAGGCTGAGGCGGAGGACCGCCTGAGGCAAGGAATTCAGAACCACTCTGGGCAACATAATGACACTAAAAAAGACTATCTCTAATCAAGGCTAGAACCAAGGGAAGGCTAAGAATTGCCCAGTACTGTGCAACTACGAAAGCCCTACCCAAGGCCACCAGCCTTGTCTTCCTCTTTCCTCTGTCAGTTCAAAAAGAACAGAAACCTCCAGCTCTTTTACATAGCAGGTACCAGGCATTTATCAGAAGAGGCCAAGCTTCTGGTTCCCATGCAGCCCTTTGAATAGTGTGTCTAAACAAAAATAGGTGTCCAAGTAGTCACACTGAGACTTTAACTGGTAACCCAGCCTGTGGCGTCAGTCGCAGTGCTCTGGCCAACACTATAGCAGGGCTTATTCTTCTCCCTCATGTGTAGTGAAACAAAATGTAACACCTTGGGTTCATTCAGTTCCATTCCCTATATCTACCTGTGTCAATATAATTCCCTGATTTGGAGGCAGCTCTCCTCATTTTCCCCAAAACAGGGAAAGCAAGGAGT
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Task1_train_882
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The gene LOC129930446, MMACHC (ATAC-STARR-seq lymphoblastoid active region 972| metabolism of cobalamin associated C) on Chromosome 1 contains a mutation. Based on this information, is the variant pathogenic or benign? Provide the disease if relevant.
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Pathogenic; Cobalamin C disease
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TTCGGAGACCAGCCTGGCCAACATGGCGAAACCCTGTCTCTACTAAAAATACAAAAACTAGCCAGGCGTGGTAGTGCACATCGTAATCCCAGCTGCTCGGGAGGCTGAGGCATGAGAATCACTTGAATCTGGGAGGCCAAAGTTGCAGTGGGCCAAGATCATGCCACTGCACTCCAGCCTGGGTGACAGAGCAAGACTCTGTCTCAAAAAATAATGAATTCCCTGTCAAATTCAGTTGAGTTGCTTATAAAAATGCATCACATAGCGTCAGTGAAAATTCACTGAATGAGTGAGATGGAGGCTGGGGCAAAAGTGTGAGGCCTGAAGGTTAAGGTGTGGGCCAGGCTGAGGCCTAGACTGGCCCTCTCCAGCCTGGCCTGAACTTTCTGTTTCAGGTGGCATGGTACAATGAACTCTTGCCTCCAGCCTTCCACCTACCGCTGCCAGGACCTACCCTGGCCTTCCTGGTACTCAGCACGCCTGCCATGTTTGACCGGGCCCTCAAGCCCTTCTTGCAGAGCTGCCACCTCCGAATGCTGACTGACCCAGTGGACCAGTGTGTGGCCTACCATCTGGGCCGTGTTAGAGAGGTGAGGAAGGCTCAGTTTTCCCCCAGCTCCCAAACCTACAGCTGCCTCCAGTTCCTCCACACTCAATGCAGGATCTAGACCTAGGGCTAGGAGCCACTTCAAAGGTGAAATGATACCCTAAAGCCAGGCTTGACATTCTGTGATCTTTCCTCATTCTGCCTTCTCACACACCCAGGTTCCACCACCCTCATCTAGCAGTCCCCCAGTGTGAAATAGTCTCACTCACCCTACACTGATGGGCAACTATATGAACCTCAGACCAGGTTTTCCTTGGCCTCCAAGTGGAATAGGAATGAGTCCAACATTCCCCAGGCATTGCTTTGTCCTAGACCTGCAAGCTTTATGCTGTCCTTTTGAGGACAGAACAATATTCTCCCAACACACACTCACATATACACATAACTATGTACATACCCACTGGATCTCCCCAAAGCTGACCATGCCTTCCTTCACACCAGGTGTTATGTATTTCCCTTCAAACATGTGCCCTTCTGGAAATAACTATAACTATGTCCACACTGGAGCCTCCCAAGTTAAGGTCATGTTTTCCCTTCTGAGGACAGGACCATGTTCACACACACAAAACAAACTAGGGCTCCCTCGGACAAGGTCATAACTCCCCTCATGCTGACAGTACCCTCTATTTTGTCCACTGTTCCAGAGCCTCCCAGAGCTGCAGATAGAAATCATTGCTGACTACGAGGTGCACCCCAACCGACGCCCCAAGATCCTGGCCCAGACAGCAGCCCATGTAGCTGGGGCTGCTTACTACTACCAACGACAAGATGTGGAGGCTGACCCATGGGGGAACCAGGTGAGAGGGAAAATGTAAATAGAGGCTGAGATAGACTGGTAAAGGCCTCTCCCTACCAGGTCCCACATTCCTCAGCCTTCCCTGGATGGATGTGACACAACCCAGAACAAATTAGCTTTGTTCTGGATGGGAGGCAGTCCTGTCACATGCGGTTGTCTAACTGGGTACTCGTGAGATCAGAAAACTTAGTCTGCAGAACTGTCTTAGGATACAGGGGGCACAGCAGTGTTAAGACTAGTGGTGAGACTAGGAAGCCCAGCCCTTCCCTGTGCTCAGAATAGTTTATGAAAGGGTTTGCCAAGAAAAGGACAGAGGTTTATGTAGTCAGTGTACACTGAGTGGGAAGTGAACAGGCCTAGCTTGCAATGATGGCAGTTGACTTGGTGCCAAGGGGACCTCCATGACCTTGCTTTTCTTCACCCTCTCCCCAGCGCATATCAGGTGTGTGCATACACCCCCGATTTGGGGGCTGGTTTGCCATCCGAGGGGTAGTGCTGCTGCCAGGGATAGAGGTGCCAGATCTGCCACCCAGAAAACCTCATGACTGTGTACCTACAAGAGCTGACCGTATCGCCCTACTCGAAGGCTTCAATTTCCACTGGCGTGATTGGACTTACCGGGATGCTGTGACACCCCAGGAGCGCTACTCAGAAGAGCAGAAGGCCTACTTCTCCACTCCACCTGCCCAACGATTGGCCCTATTGGGCTTGGCTCAGCCCTCAGAGAAGCCTAGTTCTCCCTCCCCGGACCTTCCCTTTACCACACCCGCCCCCAAGAAGCCTGGGAATCCCAGCAGAGCCCGGAGCTGGCTCAGCCCCAGGGTCTCACCACCTGCATCCCCTGGCCCTTGATTTTCTCCCATGTGGACCCTGATTTATGGTGGTACTTGCTAGGACTTAATTGGCTTTGGCAAAGCAAAAGGTTTTGAGTACAAGATTACTATTTTTGATAATATAGTAGAGATCTTCCATGAAGATAACAAGGCTCAAGGAAGTTAGGTTTGGCCAAGATAAAGGCCAGGGAACCAGAATTCCCATCTGCCTTCAAATGAGTTTTTTTTTTTTTTTTAGACAGAGTCTTACTCTGTCACCTAGGCTGGAGTGCAGTGGCACAGTCTCTACTCACTGCAACCTCTGCCTCCTGGGTTCAAGCAATTATCTGCCTCAGCCTCCTGAGTAGCTGGGATGACAGGTGCCTGCCACTACACCTGGCTAATTTTTTGTATTTTTAGTAGAGATGGGGTTTCATCATATTGGCCAGGCTGGTCTTTAACTCCTGACCTCGTGATCCACCCATCTTGGCCTCCCAAAGTCCTGGGATTACAGGAATGAGCCACCGCACCCAGCCAAGACTCTATCTGTTCCCATTTCTAAGCAGTTCCCCAAGATGTTGTTACAGGGCCTAAGGGGCAAATATCCTCTAAAGAGTACCTACCAGCAGGGTGTGGTGGCTCCCGCCTGTAATCCCAGCACTCTGGGAGGCCGAGGCAGGTGGATCATGAGGTCGAGTTTGAGACCAGCCTGGCCAATACAGTGAAACCCCGTCTCTACTAAAAATGCAAAGTTAGCCGGGCATGGTAGCGCAGGCCTGTAGTCCCAGCTACTCAGGAGGCTGAGGCAGTAGAATCATTTGAACCAGGGAGGCAGAGATTGCAGTGAGCCGAGATTGCATGGCTGCACTCTAGCCTGGGTGACAGTGTGAGACTCTGTCTCAAAAAAAAAAAAAAAAGTACCTACCTCAGGTAGGGACTGAATAAACACGTGTAAGGCACTTTGGAAAAATACCTGGCATATATAGTAAGCAGTATGTTGGCCATTACCAAAGGCCCTGGGAATTCTGTACTGCTGCTCATGGGTGTAGTCGGTTCTAGAGGGGTGGGCAGGTGGGAGTAGCTGAGGAAGACAAGTGGCTGGAATGGTATCACATGATACACAGAAGTATCCTCAGTTCTGAATCTACCTTGGCCTCAAGGGCCCAGGAGAATAACTTTTCCCAGCTGACAGCCTCTCTGAGGACAATGACATATGAATGAGGATCAAAACGAGCTTTGGCCAGGCACTGTGGCGCTCACCTGTAATCCCACCATTTTGGGAGGCTGAGGCGGAGGACCGCCTGAGGCAAGGAATTCAGAACCACTCTGGGCAACATAATGACACTAAAAAAGACTATCTCTAATCAAGGCTAGAACCAAGGGAAGGCTAAGAATTGCCCAGTACTGTGCAACTACGAAAGCCCTACCCAAGGCCACCAGCCTTGTCTTCCTCTTTCCTCTGTCAGTTCAAAAAGAACAGAAACCTCCAGCTCTTTTACATAGCAGGTACCAGGCATTTATCAGAAGAGGCCAAGCTTCTGGTTCCCATGCAGCCCTTTGAATAGTGTGTCTAAACAAAAATAGGTGTCCAAGTAGTCACACTGAGACTTTAACTGGTAACCCAGCCTGTGGCGTCAGTCGCAGTGCTCTGGCCAACACTATAGCAGGGCTTATTCTTCTCCCTCATGTGTAGTGAAACAAAATGTAACACCTTGGGTTCATTCAGTTCCATTCCCTATATCTACCTGTGTCAATATAATTCCCTGATTTGGAGGCAGCTCTCCTCATTTTCCCCAAAACAGGGAAAGCAAGGAGTAAATTCCTCTTAAAATCAAAAGCTAATAATATGCTTCCTAAAATAAAGACTCATCAAGGTCTCAG
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TTCGGAGACCAGCCTGGCCAACATGGCGAAACCCTGTCTCTACTAAAAATACAAAAACTAGCCAGGCGTGGTAGTGCACATCGTAATCCCAGCTGCTCGGGAGGCTGAGGCATGAGAATCACTTGAATCTGGGAGGCCAAAGTTGCAGTGGGCCAAGATCATGCCACTGCACTCCAGCCTGGGTGACAGAGCAAGACTCTGTCTCAAAAAATAATGAATTCCCTGTCAAATTCAGTTGAGTTGCTTATAAAAATGCATCACATAGCGTCAGTGAAAATTCACTGAATGAGTGAGATGGAGGCTGGGGCAAAAGTGTGAGGCCTGAAGGTTAAGGTGTGGGCCAGGCTGAGGCCTAGACTGGCCCTCTCCAGCCTGGCCTGAACTTTCTGTTTCAGGTGGCATGGTACAATGAACTCTTGCCTCCAGCCTTCCACCTACCGCTGCCAGGACCTACCCTGGCCTTCCTGGTACTCAGCACGCCTGCCATGTTTGACCGGGCCCTCAAGCCCTTCTTGCAGAGCTGCCACCTCCGAATGCTGACTGACCCAGTGGACCAGTGTGTGGCCTACCATCTGGGCCGTGTTAGAGAGGTGAGGAAGGCTCAGTTTTCCCCCAGCTCCCAAACCTACAGCTGCCTCCAGTTCCTCCACACTCAATGCAGGATCTAGACCTAGGGCTAGGAGCCACTTCAAAGGTGAAATGATACCCTAAAGCCAGGCTTGACATTCTGTGATCTTTCCTCATTCTGCCTTCTCACACACCCAGGTTCCACCACCCTCATCTAGCAGTCCCCCAGTGTGAAATAGTCTCACTCACCCTACACTGATGGGCAACTATATGAACCTCAGACCAGGTTTTCCTTGGCCTCCAAGTGGAATAGGAATGAGTCCAACATTCCCCAGGCATTGCTTTGTCCTAGACCTGCAAGCTTTATGCTGTCCTTTTGAGGACAGAACAATATTCTCCCAACACACACTCACATATACACATAACTATGTACATACCCACTGGATCTCCCCAAAGCTGACCATGCCTTCCTTCACACCAGGTGTTATGTATTTCCCTTCAAACATGTGCCCTTCTGGAAATAACTATAACTATGTCCACACTGGAGCCTCCCAAGTTAAGGTCATGTTTTCCCTTCTGAGGACAGGACCATGTTCACACACACAAAACAAACTAGGGCTCCCTCGGACAAGGTCATAACTCCCCTCATGCTGACAGTACCCTCTATTTTGTCCACTGTTCCAGAGCCTCCCAGAGCTGCAGATAGAAATCATTGCTGACTACGAGGTGCACCCCAACCGACGCCCCAAGATCCTGGCCCAGACAGCAGCCCATGTAGCTGGGGCTGCTTACTACTACCAACGACAAGATGTGGAGGCTGACCCATGGGGGAACCAGGTGAGAGGGAAAATGTAAATAGAGGCTGAGATAGACTGGTAAAGGCCTCTCCCTACCAGGTCCCACATTCCTCAGCCTTCCCTGGATGGATGTGACACAACCCAGAACAAATTAGCTTTGTTCTGGATGGGAGGCAGTCCTGTCACATGCGGTTGTCTAACTGGGTACTCGTGAGATCAGAAAACTTAGTCTGCAGAACTGTCTTAGGATACAGGGGGCACAGCAGTGTTAAGACTAGTGGTGAGACTAGGAAGCCCAGCCCTTCCCTGTGCTCAGAATAGTTTATGAAAGGGTTTGCCAAGAAAAGGACAGAGGTTTATGTAGTCAGTGTACACTGAGTGGGAAGTGAACAGGCCTAGCTTGCAATGATGGCAGTTGACTTGGTGCCAAGGGGACCTCCATGACCTTGCTTTTCTTCACCCTCTCCCCAGCGCATATCAGGTGTGTGCATACACCCCCGATTTGGGGGCTGGTTTGCCATCCGAGGGGTAGTGCTGCTGCCAGGGATAGAGGTGCCAGATCTGCCACCCAGAAAACCTCATGACTGTGTACCTACAAGAGCTGACCGTATCGCCCTACTCGAAGGCTTCAATTTCCACTGGCGTGATTGGACTTACCGGGATGCTGTGACACCCCAGGAGCGCCACTCAGAAGAGCAGAAGGCCTACTTCTCCACTCCACCTGCCCAACGATTGGCCCTATTGGGCTTGGCTCAGCCCTCAGAGAAGCCTAGTTCTCCCTCCCCGGACCTTCCCTTTACCACACCCGCCCCCAAGAAGCCTGGGAATCCCAGCAGAGCCCGGAGCTGGCTCAGCCCCAGGGTCTCACCACCTGCATCCCCTGGCCCTTGATTTTCTCCCATGTGGACCCTGATTTATGGTGGTACTTGCTAGGACTTAATTGGCTTTGGCAAAGCAAAAGGTTTTGAGTACAAGATTACTATTTTTGATAATATAGTAGAGATCTTCCATGAAGATAACAAGGCTCAAGGAAGTTAGGTTTGGCCAAGATAAAGGCCAGGGAACCAGAATTCCCATCTGCCTTCAAATGAGTTTTTTTTTTTTTTTTAGACAGAGTCTTACTCTGTCACCTAGGCTGGAGTGCAGTGGCACAGTCTCTACTCACTGCAACCTCTGCCTCCTGGGTTCAAGCAATTATCTGCCTCAGCCTCCTGAGTAGCTGGGATGACAGGTGCCTGCCACTACACCTGGCTAATTTTTTGTATTTTTAGTAGAGATGGGGTTTCATCATATTGGCCAGGCTGGTCTTTAACTCCTGACCTCGTGATCCACCCATCTTGGCCTCCCAAAGTCCTGGGATTACAGGAATGAGCCACCGCACCCAGCCAAGACTCTATCTGTTCCCATTTCTAAGCAGTTCCCCAAGATGTTGTTACAGGGCCTAAGGGGCAAATATCCTCTAAAGAGTACCTACCAGCAGGGTGTGGTGGCTCCCGCCTGTAATCCCAGCACTCTGGGAGGCCGAGGCAGGTGGATCATGAGGTCGAGTTTGAGACCAGCCTGGCCAATACAGTGAAACCCCGTCTCTACTAAAAATGCAAAGTTAGCCGGGCATGGTAGCGCAGGCCTGTAGTCCCAGCTACTCAGGAGGCTGAGGCAGTAGAATCATTTGAACCAGGGAGGCAGAGATTGCAGTGAGCCGAGATTGCATGGCTGCACTCTAGCCTGGGTGACAGTGTGAGACTCTGTCTCAAAAAAAAAAAAAAAAGTACCTACCTCAGGTAGGGACTGAATAAACACGTGTAAGGCACTTTGGAAAAATACCTGGCATATATAGTAAGCAGTATGTTGGCCATTACCAAAGGCCCTGGGAATTCTGTACTGCTGCTCATGGGTGTAGTCGGTTCTAGAGGGGTGGGCAGGTGGGAGTAGCTGAGGAAGACAAGTGGCTGGAATGGTATCACATGATACACAGAAGTATCCTCAGTTCTGAATCTACCTTGGCCTCAAGGGCCCAGGAGAATAACTTTTCCCAGCTGACAGCCTCTCTGAGGACAATGACATATGAATGAGGATCAAAACGAGCTTTGGCCAGGCACTGTGGCGCTCACCTGTAATCCCACCATTTTGGGAGGCTGAGGCGGAGGACCGCCTGAGGCAAGGAATTCAGAACCACTCTGGGCAACATAATGACACTAAAAAAGACTATCTCTAATCAAGGCTAGAACCAAGGGAAGGCTAAGAATTGCCCAGTACTGTGCAACTACGAAAGCCCTACCCAAGGCCACCAGCCTTGTCTTCCTCTTTCCTCTGTCAGTTCAAAAAGAACAGAAACCTCCAGCTCTTTTACATAGCAGGTACCAGGCATTTATCAGAAGAGGCCAAGCTTCTGGTTCCCATGCAGCCCTTTGAATAGTGTGTCTAAACAAAAATAGGTGTCCAAGTAGTCACACTGAGACTTTAACTGGTAACCCAGCCTGTGGCGTCAGTCGCAGTGCTCTGGCCAACACTATAGCAGGGCTTATTCTTCTCCCTCATGTGTAGTGAAACAAAATGTAACACCTTGGGTTCATTCAGTTCCATTCCCTATATCTACCTGTGTCAATATAATTCCCTGATTTGGAGGCAGCTCTCCTCATTTTCCCCAAAACAGGGAAAGCAAGGAGTAAATTCCTCTTAAAATCAAAAGCTAATAATATGCTTCCTAAAATAAAGACTCATCAAGGTCTCAG
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Task1_train_883
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A mutation in POMGNT1, TSPAN1 (protein O-linked mannose N-acetylglucosaminyltransferase 1 (beta 1,2-)| tetraspanin 1), located on Chromosome 1, is being studied. Determine whether it’s pathogenic or benign, and specify the linked disease.
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Pathogenic; Retinitis pigmentosa 76
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CCACCTTGAAGTTCTTTTTTTTTTTTTTTTTTTGAGATGGAGTCTTGCTCTGTCGCCCAGGCTGGAGTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGACTACAGGCGCCTGCCACCACGCCCGGCTAATTTTTTGTATTTTTAGTAGAGACAGGGTTTCACCGTGTTAGCCAGGATGGTCTCGATCTCCTGACCTCATGATCCACCCACCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCGGCCTGAAGTTCCTAATGTTTGAGATGAGGGCCCTGATTTTCATTTTGCACAGGACCCTGTAAATTATGGGGCCAAGATCCCCAGTATTTGACTCTTTGCTCCCTGCTACACCCCAATTGTCCTAGGCCATACCTGAGCAGCCTGTGAACTTCCACTTCATAAGCTTCTTTCTTCAGACTGAAGAGGAGGGAGAAATGGGTCAGGGGAGTGGGCAGGCCCTCAGGTCCCATGGGTAGCACTGAGCAGGGCAAGGGGTCACATGGGAATCTGTAGCCGCAGGGCTGGAGTAAACACACAGGCCCAGCATTGGAAGGGACTTTCAGGGACTGGCCTCCAAATCTCCTAGATATCCACCCCTTGCCCTGCTGCCAGCCCCAACCTGTCCACATTCCTGAGCTGGACACCTGGAACCGTGTTGAACTTGTGCTTCTTGAAGTAGGCCTCCTGGAGTGGGTATGAGAGTGAAAATCAGCACCTCACATTGTCTGGCCCACACCCACTTGCTGACCAGCCAGACATCTATAAGACACACAAATGAAGTCCTAGACCTGTAAAGAGCCCTCTAATTTCCCACCGTCTTCTCCATCCTCTTTGCAGCATCCTCAGCAAGCTCTTACTAGCTTTAATTTGGCCTCCACCATTGCTGGAGAGCTCATGCTGTCACGGCAGCTCACACTACTGCACCACAGACCCATGAACTAGCAGTCCCTGCCTCTTGTAGTTCTCCCTGGGCCTGCTGTTCTAGAGCCACAGATGTCAGAAACAGGCCCTGCAGGAGGTGGTGGGCAAAGGGACGGGCTGGGCTGGGAAGGAAAAAACTACTTTGACTCTGGTACTGAGAGTGACCTGAGGGAAGCGCCTGCCCCTCTCTGGGAGAGGAATGGGGCTCGCGTATTAGTCAGCCTCTGAGGGACCTCTGGCTTCTAGGAGGTTCCAAGCTGGACGCTATTCATTCCTTTGGGCTGGGCTGGCTCAAGGCCTCCCTTGCTGTAACTGGGGAATGGTCCTCTGAATGCAGCCAGGTGGGTTGGCGGTACCTAAGGACTTCCCTGTTCTCCTCAGGCTGAAGCATAGGCTCCAGCACTTGCCAAAACAGGAAAGGGCAGAGATTGCAGGGCTGGACCAGTACTTAGAGGCAGAAATACTCTCCCCAGACACCCACAGTCTAGTGCTAAAAATAGTAAAAATAAAAACAATACCAGCTGACCCTTATATATGTTTATAATTCAAAGCACTTTACATATATTGACTCATTTAAACCTCAAAATATCGTAACCCAGTGAGGTAGTAGTATTTTATCCTCTTTTTTTTTGAGATGGAGTCTCGCTCTGTCACCTAGGCTGGAGTGCAGTGGCGTGATCTTGGCTCACAGCAAGCTTCGCCTCCTGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGACTACAGGCGCCCATCACCAGGCCCGGCTAATTTTTTGTATTTTTAGTAGAGATGGGGTTTCACCATGTTAGCCAGGATGGTCTCGATCTCCTGACCTTGTGATCCACCCGCATCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCAGCCCTTTATCCTCATTTTTCAGATAAAGAAACTGAGGCAAAAATAGGATAGCTCTTTCCCCAAGGTTACATGGCTAGCAAGTAGCAGAGCTAAGATTGCTTCAGAGTCCATGTTCTTGTTCTTGACTGTCATGCCACACTGTGCCCTGCTCCCTGCCTCCCACTCACGTGAAAGTAGCCATTCATGTTGAGGCCGACGATGCCAAAGTGGTAGGATCGGGAAACGTCAGGGATGATGCACTCTCGGCCCCGGCGTTGTTCAGGCATCCGCATCCACATGTCCCAATCCCAGAGCTGGCAGACATGGACCACGATGAAGGTTAAGATGTTTCGAGTTGGTAGGGGACTCCAGCCCCCTCACCCTACCCTGACAGTTACCTTTTCCGGTGTAGGCCACTTGGGCTCAAGCTCCTCCTTGTACAAGGACCTCCTGAGCACCCAGCCCAGCCCAGGCATGGTCTCCACACGGTACAGTAGTGCTGGGTCCTCAGCCGTGTGTTCATACCCCTGGGGACAGGGTGCCATAGTGGGAGGTATTAGCTGAGGCCTCATAAACTCGCCTGCTAAACCCTGGTCATTCCAGCCTACCTGGTCATTCCAGGCAGAGATGCAGTACAGGCTGTCATCCTCCTCCAGTAGGTGGATGGATTGGCTCAGGAAACTGAGAGAGGCAGGGTCAAAGAGTTCAGGGAGGGACAAGGATAAATCTAGTCACACAGAGATGCTAGAATTGCTGGAGCTGGGTCTCAGGAGCACCTCCTTCCTGGAGTACCTCCTTCCCCCAAATCCCCACTGTCTCCATTCATCCACTGTACCTTCAACAGCAGCCCCAACACCTGCCATCCTACCTTTGCCCAGGCTTCGCCCCCACTTGTGAGCTCATGTCCTCCAGAAAGCTCTCTAGGACACCTCACTGACTCTTTCCCTGCAGACTGAGGGACCTCAACTGAAACCTAGAGACTCCCCTCACCTGAAAAAATCCACAGCAATGTCCAGGTCCTCTTCCAGAACCACAGCAAACTTGGCCTCCTAGAAGGGGAATGGGACATCATGGTCCCAAAGGGGTCTCTCCATCCTGTGATCTCCTTTGCCCCCAACCCTCTTCTTGCAGGCAGCATTACCCCCATTTTCCAGATGTGAAGGATGAGGCCCAGTGAGGGGAAGAGCTTGCCACGTAACAGGCCCAGACCTTATGCCCATGTTTCCCCCCTCCCAGGCCCAAGAGTTGTATCCTTAGTACTCACCGGAAACAGGTTGAAAGTGGCAGTGAGGCTGGCCTTGTAGTGCTGGGAGTGGGGTGGGAATAGGGCACATGAGCTTTAGGGTAGAAGGCAGAGCCAGGTGTCTGCCCCATCCCCACTTGCCTATGCAGTACCTGAGACACGCGGGCATTCTTGATGCTGATGGGAGTATGCTGGATGCCCCTCAGACCAAACAGTGCCACCACATCCATGGGTTCCTGGGGGACATGGCCACTGCTCACCATGTGAGGTCACTTTCCCTCTGCCCACCTCTGCAATCCAAGGCCTTCACATTTCACAGCCCTTGCCTGGGCGGTCTCCCTTGCCCGTCCCTGGCAATCACTGCTGCTCCATGTTGTACTCCACCCGAGGCACCCCCCAAGTCCTGCTCACCTCATAGTAGCCGTCAATGAAAACTGTTATCATCTGAGGAGACACCCCCTGGGCTGAAAGCAGAGAGCGCAGCATCCTGGGGAGCCCAGGGATAGGTTAGGGTCACTTCATCACCCCTCAACTCAGGTTCCCCTGTGTTTACAGCTGGGCCCAGAGTCCCTATGCTTACCCACAGAGGTGAATGCGTCTAGAATCTATTGCCTTTCTGCCCACCTCAAGAGTTCCTCCTGGAGGTAGATGACCTAAGCACCCTCCTGTTCAGTGCTGGGTATAGCCCATTCCCAGGCTTACCTGTACAGGTAATTGGGTCGGTTCCCTGCAATGACAGCCACAGGCACATTGAGGACCTTGTTGTCTGGGAGCTGTGGGAGAAATAGCGTTTAGCTCTTGCCTTATTCCCCCTTCAAACTGGGATCCCCACCTAGGGAAGACTTCTCAGGTGAGGGTAGGTGCAGACTGGAGTAGACAGGGAAGGGATAGAGGATCTTCCCTGTTCTGGGCTCTCCACACACTCAGCCCAACTCTAGCGCTGAGCTTTACTCACATGGCCTGCCCCTTCACCCCAGCCCTGTCTTTCAGAGCGCAGTGTAAATCCTGCCCCTGGTTCTCTCCCAGG
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CCACCTTGAAGTTCTTTTTTTTTTTTTTTTTTTGAGATGGAGTCTTGCTCTGTCGCCCAGGCTGGAGTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGACTACAGGCGCCTGCCACCACGCCCGGCTAATTTTTTGTATTTTTAGTAGAGACAGGGTTTCACCGTGTTAGCCAGGATGGTCTCGATCTCCTGACCTCATGATCCACCCACCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCGGCCTGAAGTTCCTAATGTTTGAGATGAGGGCCCTGATTTTCATTTTGCACAGGACCCTGTAAATTATGGGGCCAAGATCCCCAGTATTTGACTCTTTGCTCCCTGCTACACCCCAATTGTCCTAGGCCATACCTGAGCAGCCTGTGAACTTCCACTTCATAAGCTTCTTTCTTCAGACTGAAGAGGAGGGAGAAATGGGTCAGGGGAGTGGGCAGGCCCTCAGGTCCCATGGGTAGCACTGAGCAGGGCAAGGGGTCACATGGGAATCTGTAGCCGCAGGGCTGGAGTAAACACACAGGCCCAGCATTGGAAGGGACTTTCAGGGACTGGCCTCCAAATCTCCTAGATATCCACCCCTTGCCCTGCTGCCAGCCCCAACCTGTCCACATTCCTGAGCTGGACACCTGGAACCGTGTTGAACTTGTGCTTCTTGAAGTAGGCCTCCTGGAGTGGGTATGAGAGTGAAAATCAGCACCTCACATTGTCTGGCCCACACCCACTTGCTGACCAGCCAGACATCTATAAGACACACAAATGAAGTCCTAGACCTGTAAAGAGCCCTCTAATTTCCCACCGTCTTCTCCATCCTCTTTGCAGCATCCTCAGCAAGCTCTTACTAGCTTTAATTTGGCCTCCACCATTGCTGGAGAGCTCATGCTGTCACGGCAGCTCACACTACTGCACCACAGACCCATGAACTAGCAGTCCCTGCCTCTTGTAGTTCTCCCTGGGCCTGCTGTTCTAGAGCCACAGATGTCAGAAACAGGCCCTGCAGGAGGTGGTGGGCAAAGGGACGGGCTGGGCTGGGAAGGAAAAAACTACTTTGACTCTGGTACTGAGAGTGACCTGAGGGAAGCGCCTGCCCCTCTCTGGGAGAGGAATGGGGCTCGCGTATTAGTCAGCCTCTGAGGGACCTCTGGCTTCTAGGAGGTTCCAAGCTGGACGCTATTCATTCCTTTGGGCTGGGCTGGCTCAAGGCCTCCCTTGCTGTAACTGGGGAATGGTCCTCTGAATGCAGCCAGGTGGGTTGGCGGTACCTAAGGACTTCCCTGTTCTCCTCAGGCTGAAGCATAGGCTCCAGCACTTGCCAAAACAGGAAAGGGCAGAGATTGCAGGGCTGGACCAGTACTTAGAGGCAGAAATACTCTCCCCAGACACCCACAGTCTAGTGCTAAAAATAGTAAAAATAAAAACAATACCAGCTGACCCTTATATATGTTTATAATTCAAAGCACTTTACATATATTGACTCATTTAAACCTCAAAATATCGTAACCCAGTGAGGTAGTAGTATTTTATCCTCTTTTTTTTTGAGATGGAGTCTCGCTCTGTCACCTAGGCTGGAGTGCAGTGGCGTGATCTTGGCTCACAGCAAGCTTCGCCTCCTGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGACTACAGGCGCCCATCACCAGGCCCGGCTAATTTTTTGTATTTTTAGTAGAGATGGGGTTTCACCATGTTAGCCAGGATGGTCTCGATCTCCTGACCTTGTGATCCACCCGCATCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCAGCCCTTTATCCTCATTTTTCAGATAAAGAAACTGAGGCAAAAATAGGATAGCTCTTTCCCCAAGGTTACATGGCTAGCAAGTAGCAGAGCTAAGATTGCTTCAGAGTCCATGTTCTTGTTCTTGACTGTCATGCCACACTGTGCCCTGCTCCCTGCCTCCCACTCACGTGAAAGTAGCCATTCATGTTGAGGCCGACGATGGCAAAGTGGTAGGATCGGGAAACGTCAGGGATGATGCACTCTCGGCCCCGGCGTTGTTCAGGCATCCGCATCCACATGTCCCAATCCCAGAGCTGGCAGACATGGACCACGATGAAGGTTAAGATGTTTCGAGTTGGTAGGGGACTCCAGCCCCCTCACCCTACCCTGACAGTTACCTTTTCCGGTGTAGGCCACTTGGGCTCAAGCTCCTCCTTGTACAAGGACCTCCTGAGCACCCAGCCCAGCCCAGGCATGGTCTCCACACGGTACAGTAGTGCTGGGTCCTCAGCCGTGTGTTCATACCCCTGGGGACAGGGTGCCATAGTGGGAGGTATTAGCTGAGGCCTCATAAACTCGCCTGCTAAACCCTGGTCATTCCAGCCTACCTGGTCATTCCAGGCAGAGATGCAGTACAGGCTGTCATCCTCCTCCAGTAGGTGGATGGATTGGCTCAGGAAACTGAGAGAGGCAGGGTCAAAGAGTTCAGGGAGGGACAAGGATAAATCTAGTCACACAGAGATGCTAGAATTGCTGGAGCTGGGTCTCAGGAGCACCTCCTTCCTGGAGTACCTCCTTCCCCCAAATCCCCACTGTCTCCATTCATCCACTGTACCTTCAACAGCAGCCCCAACACCTGCCATCCTACCTTTGCCCAGGCTTCGCCCCCACTTGTGAGCTCATGTCCTCCAGAAAGCTCTCTAGGACACCTCACTGACTCTTTCCCTGCAGACTGAGGGACCTCAACTGAAACCTAGAGACTCCCCTCACCTGAAAAAATCCACAGCAATGTCCAGGTCCTCTTCCAGAACCACAGCAAACTTGGCCTCCTAGAAGGGGAATGGGACATCATGGTCCCAAAGGGGTCTCTCCATCCTGTGATCTCCTTTGCCCCCAACCCTCTTCTTGCAGGCAGCATTACCCCCATTTTCCAGATGTGAAGGATGAGGCCCAGTGAGGGGAAGAGCTTGCCACGTAACAGGCCCAGACCTTATGCCCATGTTTCCCCCCTCCCAGGCCCAAGAGTTGTATCCTTAGTACTCACCGGAAACAGGTTGAAAGTGGCAGTGAGGCTGGCCTTGTAGTGCTGGGAGTGGGGTGGGAATAGGGCACATGAGCTTTAGGGTAGAAGGCAGAGCCAGGTGTCTGCCCCATCCCCACTTGCCTATGCAGTACCTGAGACACGCGGGCATTCTTGATGCTGATGGGAGTATGCTGGATGCCCCTCAGACCAAACAGTGCCACCACATCCATGGGTTCCTGGGGGACATGGCCACTGCTCACCATGTGAGGTCACTTTCCCTCTGCCCACCTCTGCAATCCAAGGCCTTCACATTTCACAGCCCTTGCCTGGGCGGTCTCCCTTGCCCGTCCCTGGCAATCACTGCTGCTCCATGTTGTACTCCACCCGAGGCACCCCCCAAGTCCTGCTCACCTCATAGTAGCCGTCAATGAAAACTGTTATCATCTGAGGAGACACCCCCTGGGCTGAAAGCAGAGAGCGCAGCATCCTGGGGAGCCCAGGGATAGGTTAGGGTCACTTCATCACCCCTCAACTCAGGTTCCCCTGTGTTTACAGCTGGGCCCAGAGTCCCTATGCTTACCCACAGAGGTGAATGCGTCTAGAATCTATTGCCTTTCTGCCCACCTCAAGAGTTCCTCCTGGAGGTAGATGACCTAAGCACCCTCCTGTTCAGTGCTGGGTATAGCCCATTCCCAGGCTTACCTGTACAGGTAATTGGGTCGGTTCCCTGCAATGACAGCCACAGGCACATTGAGGACCTTGTTGTCTGGGAGCTGTGGGAGAAATAGCGTTTAGCTCTTGCCTTATTCCCCCTTCAAACTGGGATCCCCACCTAGGGAAGACTTCTCAGGTGAGGGTAGGTGCAGACTGGAGTAGACAGGGAAGGGATAGAGGATCTTCCCTGTTCTGGGCTCTCCACACACTCAGCCCAACTCTAGCGCTGAGCTTTACTCACATGGCCTGCCCCTTCACCCCAGCCCTGTCTTTCAGAGCGCAGTGTAAATCCTGCCCCTGGTTCTCTCCCAGG
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Task1_train_884
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Mutation context: Chromosome 1, Gene POMGNT1, TSPAN1 (protein O-linked mannose N-acetylglucosaminyltransferase 1 (beta 1,2-)| tetraspanin 1). Determine if this variant is likely to be benign or pathogenic. Mention the disease if applicable.
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Pathogenic; Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A3
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TTTTTTGAGATGGAGTCTTGCTCTGTCGCCCAGGCTGGAGTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGACTACAGGCGCCTGCCACCACGCCCGGCTAATTTTTTGTATTTTTAGTAGAGACAGGGTTTCACCGTGTTAGCCAGGATGGTCTCGATCTCCTGACCTCATGATCCACCCACCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCGGCCTGAAGTTCCTAATGTTTGAGATGAGGGCCCTGATTTTCATTTTGCACAGGACCCTGTAAATTATGGGGCCAAGATCCCCAGTATTTGACTCTTTGCTCCCTGCTACACCCCAATTGTCCTAGGCCATACCTGAGCAGCCTGTGAACTTCCACTTCATAAGCTTCTTTCTTCAGACTGAAGAGGAGGGAGAAATGGGTCAGGGGAGTGGGCAGGCCCTCAGGTCCCATGGGTAGCACTGAGCAGGGCAAGGGGTCACATGGGAATCTGTAGCCGCAGGGCTGGAGTAAACACACAGGCCCAGCATTGGAAGGGACTTTCAGGGACTGGCCTCCAAATCTCCTAGATATCCACCCCTTGCCCTGCTGCCAGCCCCAACCTGTCCACATTCCTGAGCTGGACACCTGGAACCGTGTTGAACTTGTGCTTCTTGAAGTAGGCCTCCTGGAGTGGGTATGAGAGTGAAAATCAGCACCTCACATTGTCTGGCCCACACCCACTTGCTGACCAGCCAGACATCTATAAGACACACAAATGAAGTCCTAGACCTGTAAAGAGCCCTCTAATTTCCCACCGTCTTCTCCATCCTCTTTGCAGCATCCTCAGCAAGCTCTTACTAGCTTTAATTTGGCCTCCACCATTGCTGGAGAGCTCATGCTGTCACGGCAGCTCACACTACTGCACCACAGACCCATGAACTAGCAGTCCCTGCCTCTTGTAGTTCTCCCTGGGCCTGCTGTTCTAGAGCCACAGATGTCAGAAACAGGCCCTGCAGGAGGTGGTGGGCAAAGGGACGGGCTGGGCTGGGAAGGAAAAAACTACTTTGACTCTGGTACTGAGAGTGACCTGAGGGAAGCGCCTGCCCCTCTCTGGGAGAGGAATGGGGCTCGCGTATTAGTCAGCCTCTGAGGGACCTCTGGCTTCTAGGAGGTTCCAAGCTGGACGCTATTCATTCCTTTGGGCTGGGCTGGCTCAAGGCCTCCCTTGCTGTAACTGGGGAATGGTCCTCTGAATGCAGCCAGGTGGGTTGGCGGTACCTAAGGACTTCCCTGTTCTCCTCAGGCTGAAGCATAGGCTCCAGCACTTGCCAAAACAGGAAAGGGCAGAGATTGCAGGGCTGGACCAGTACTTAGAGGCAGAAATACTCTCCCCAGACACCCACAGTCTAGTGCTAAAAATAGTAAAAATAAAAACAATACCAGCTGACCCTTATATATGTTTATAATTCAAAGCACTTTACATATATTGACTCATTTAAACCTCAAAATATCGTAACCCAGTGAGGTAGTAGTATTTTATCCTCTTTTTTTTTGAGATGGAGTCTCGCTCTGTCACCTAGGCTGGAGTGCAGTGGCGTGATCTTGGCTCACAGCAAGCTTCGCCTCCTGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGACTACAGGCGCCCATCACCAGGCCCGGCTAATTTTTTGTATTTTTAGTAGAGATGGGGTTTCACCATGTTAGCCAGGATGGTCTCGATCTCCTGACCTTGTGATCCACCCGCATCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCAGCCCTTTATCCTCATTTTTCAGATAAAGAAACTGAGGCAAAAATAGGATAGCTCTTTCCCCAAGGTTACATGGCTAGCAAGTAGCAGAGCTAAGATTGCTTCAGAGTCCATGTTCTTGTTCTTGACTGTCATGCCACACTGTGCCCTGCTCCCTGCCTCCCACTCACGTGAAAGTAGCCATTCATGTTGAGGCCGACGATGCCAAAGTGGTAGGATCGGGAAACGTCAGGGATGATGCACTCTCGGCCCCGGCGTTGTTCAGGCATCCGCATCCACATGTCCCAATCCCAGAGCTGGCAGACATGGACCACGATGAAGGTTAAGATGTTTCGAGTTGGTAGGGGACTCCAGCCCCCTCACCCTACCCTGACAGTTACCTTTTCCGGTGTAGGCCACTTGGGCTCAAGCTCCTCCTTGTACAAGGACCTCCTGAGCACCCAGCCCAGCCCAGGCATGGTCTCCACACGGTACAGTAGTGCTGGGTCCTCAGCCGTGTGTTCATACCCCTGGGGACAGGGTGCCATAGTGGGAGGTATTAGCTGAGGCCTCATAAACTCGCCTGCTAAACCCTGGTCATTCCAGCCTACCTGGTCATTCCAGGCAGAGATGCAGTACAGGCTGTCATCCTCCTCCAGTAGGTGGATGGATTGGCTCAGGAAACTGAGAGAGGCAGGGTCAAAGAGTTCAGGGAGGGACAAGGATAAATCTAGTCACACAGAGATGCTAGAATTGCTGGAGCTGGGTCTCAGGAGCACCTCCTTCCTGGAGTACCTCCTTCCCCCAAATCCCCACTGTCTCCATTCATCCACTGTACCTTCAACAGCAGCCCCAACACCTGCCATCCTACCTTTGCCCAGGCTTCGCCCCCACTTGTGAGCTCATGTCCTCCAGAAAGCTCTCTAGGACACCTCACTGACTCTTTCCCTGCAGACTGAGGGACCTCAACTGAAACCTAGAGACTCCCCTCACCTGAAAAAATCCACAGCAATGTCCAGGTCCTCTTCCAGAACCACAGCAAACTTGGCCTCCTAGAAGGGGAATGGGACATCATGGTCCCAAAGGGGTCTCTCCATCCTGTGATCTCCTTTGCCCCCAACCCTCTTCTTGCAGGCAGCATTACCCCCATTTTCCAGATGTGAAGGATGAGGCCCAGTGAGGGGAAGAGCTTGCCACGTAACAGGCCCAGACCTTATGCCCATGTTTCCCCCCTCCCAGGCCCAAGAGTTGTATCCTTAGTACTCACCGGAAACAGGTTGAAAGTGGCAGTGAGGCTGGCCTTGTAGTGCTGGGAGTGGGGTGGGAATAGGGCACATGAGCTTTAGGGTAGAAGGCAGAGCCAGGTGTCTGCCCCATCCCCACTTGCCTATGCAGTACCTGAGACACGCGGGCATTCTTGATGCTGATGGGAGTATGCTGGATGCCCCTCAGACCAAACAGTGCCACCACATCCATGGGTTCCTGGGGGACATGGCCACTGCTCACCATGTGAGGTCACTTTCCCTCTGCCCACCTCTGCAATCCAAGGCCTTCACATTTCACAGCCCTTGCCTGGGCGGTCTCCCTTGCCCGTCCCTGGCAATCACTGCTGCTCCATGTTGTACTCCACCCGAGGCACCCCCCAAGTCCTGCTCACCTCATAGTAGCCGTCAATGAAAACTGTTATCATCTGAGGAGACACCCCCTGGGCTGAAAGCAGAGAGCGCAGCATCCTGGGGAGCCCAGGGATAGGTTAGGGTCACTTCATCACCCCTCAACTCAGGTTCCCCTGTGTTTACAGCTGGGCCCAGAGTCCCTATGCTTACCCACAGAGGTGAATGCGTCTAGAATCTATTGCCTTTCTGCCCACCTCAAGAGTTCCTCCTGGAGGTAGATGACCTAAGCACCCTCCTGTTCAGTGCTGGGTATAGCCCATTCCCAGGCTTACCTGTACAGGTAATTGGGTCGGTTCCCTGCAATGACAGCCACAGGCACATTGAGGACCTTGTTGTCTGGGAGCTGTGGGAGAAATAGCGTTTAGCTCTTGCCTTATTCCCCCTTCAAACTGGGATCCCCACCTAGGGAAGACTTCTCAGGTGAGGGTAGGTGCAGACTGGAGTAGACAGGGAAGGGATAGAGGATCTTCCCTGTTCTGGGCTCTCCACACACTCAGCCCAACTCTAGCGCTGAGCTTTACTCACATGGCCTGCCCCTTCACCCCAGCCCTGTCTTTCAGAGCGCAGTGTAAATCCTGCCCCTGGTTCTCTCCCAGGCTCAGGTAGGGAAAGCCCAACCTAGAT
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TTTTTTGAGATGGAGTCTTGCTCTGTCGCCCAGGCTGGAGTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGACTACAGGCGCCTGCCACCACGCCCGGCTAATTTTTTGTATTTTTAGTAGAGACAGGGTTTCACCGTGTTAGCCAGGATGGTCTCGATCTCCTGACCTCATGATCCACCCACCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCGGCCTGAAGTTCCTAATGTTTGAGATGAGGGCCCTGATTTTCATTTTGCACAGGACCCTGTAAATTATGGGGCCAAGATCCCCAGTATTTGACTCTTTGCTCCCTGCTACACCCCAATTGTCCTAGGCCATACCTGAGCAGCCTGTGAACTTCCACTTCATAAGCTTCTTTCTTCAGACTGAAGAGGAGGGAGAAATGGGTCAGGGGAGTGGGCAGGCCCTCAGGTCCCATGGGTAGCACTGAGCAGGGCAAGGGGTCACATGGGAATCTGTAGCCGCAGGGCTGGAGTAAACACACAGGCCCAGCATTGGAAGGGACTTTCAGGGACTGGCCTCCAAATCTCCTAGATATCCACCCCTTGCCCTGCTGCCAGCCCCAACCTGTCCACATTCCTGAGCTGGACACCTGGAACCGTGTTGAACTTGTGCTTCTTGAAGTAGGCCTCCTGGAGTGGGTATGAGAGTGAAAATCAGCACCTCACATTGTCTGGCCCACACCCACTTGCTGACCAGCCAGACATCTATAAGACACACAAATGAAGTCCTAGACCTGTAAAGAGCCCTCTAATTTCCCACCGTCTTCTCCATCCTCTTTGCAGCATCCTCAGCAAGCTCTTACTAGCTTTAATTTGGCCTCCACCATTGCTGGAGAGCTCATGCTGTCACGGCAGCTCACACTACTGCACCACAGACCCATGAACTAGCAGTCCCTGCCTCTTGTAGTTCTCCCTGGGCCTGCTGTTCTAGAGCCACAGATGTCAGAAACAGGCCCTGCAGGAGGTGGTGGGCAAAGGGACGGGCTGGGCTGGGAAGGAAAAAACTACTTTGACTCTGGTACTGAGAGTGACCTGAGGGAAGCGCCTGCCCCTCTCTGGGAGAGGAATGGGGCTCGCGTATTAGTCAGCCTCTGAGGGACCTCTGGCTTCTAGGAGGTTCCAAGCTGGACGCTATTCATTCCTTTGGGCTGGGCTGGCTCAAGGCCTCCCTTGCTGTAACTGGGGAATGGTCCTCTGAATGCAGCCAGGTGGGTTGGCGGTACCTAAGGACTTCCCTGTTCTCCTCAGGCTGAAGCATAGGCTCCAGCACTTGCCAAAACAGGAAAGGGCAGAGATTGCAGGGCTGGACCAGTACTTAGAGGCAGAAATACTCTCCCCAGACACCCACAGTCTAGTGCTAAAAATAGTAAAAATAAAAACAATACCAGCTGACCCTTATATATGTTTATAATTCAAAGCACTTTACATATATTGACTCATTTAAACCTCAAAATATCGTAACCCAGTGAGGTAGTAGTATTTTATCCTCTTTTTTTTTGAGATGGAGTCTCGCTCTGTCACCTAGGCTGGAGTGCAGTGGCGTGATCTTGGCTCACAGCAAGCTTCGCCTCCTGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGACTACAGGCGCCCATCACCAGGCCCGGCTAATTTTTTGTATTTTTAGTAGAGATGGGGTTTCACCATGTTAGCCAGGATGGTCTCGATCTCCTGACCTTGTGATCCACCCGCATCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCAGCCCTTTATCCTCATTTTTCAGATAAAGAAACTGAGGCAAAAATAGGATAGCTCTTTCCCCAAGGTTACATGGCTAGCAAGTAGCAGAGCTAAGATTGCTTCAGAGTCCATGTTCTTGTTCTTGACTGTCATGCCACACTGTGCCCTGCTCCCTGCCTCCCACTCACGTGAAAGTAGCCATTCATGTTGAGGCCGACGATGCCAAAGTGGTAGGATCGGGAAACGTCACGGATGATGCACTCTCGGCCCCGGCGTTGTTCAGGCATCCGCATCCACATGTCCCAATCCCAGAGCTGGCAGACATGGACCACGATGAAGGTTAAGATGTTTCGAGTTGGTAGGGGACTCCAGCCCCCTCACCCTACCCTGACAGTTACCTTTTCCGGTGTAGGCCACTTGGGCTCAAGCTCCTCCTTGTACAAGGACCTCCTGAGCACCCAGCCCAGCCCAGGCATGGTCTCCACACGGTACAGTAGTGCTGGGTCCTCAGCCGTGTGTTCATACCCCTGGGGACAGGGTGCCATAGTGGGAGGTATTAGCTGAGGCCTCATAAACTCGCCTGCTAAACCCTGGTCATTCCAGCCTACCTGGTCATTCCAGGCAGAGATGCAGTACAGGCTGTCATCCTCCTCCAGTAGGTGGATGGATTGGCTCAGGAAACTGAGAGAGGCAGGGTCAAAGAGTTCAGGGAGGGACAAGGATAAATCTAGTCACACAGAGATGCTAGAATTGCTGGAGCTGGGTCTCAGGAGCACCTCCTTCCTGGAGTACCTCCTTCCCCCAAATCCCCACTGTCTCCATTCATCCACTGTACCTTCAACAGCAGCCCCAACACCTGCCATCCTACCTTTGCCCAGGCTTCGCCCCCACTTGTGAGCTCATGTCCTCCAGAAAGCTCTCTAGGACACCTCACTGACTCTTTCCCTGCAGACTGAGGGACCTCAACTGAAACCTAGAGACTCCCCTCACCTGAAAAAATCCACAGCAATGTCCAGGTCCTCTTCCAGAACCACAGCAAACTTGGCCTCCTAGAAGGGGAATGGGACATCATGGTCCCAAAGGGGTCTCTCCATCCTGTGATCTCCTTTGCCCCCAACCCTCTTCTTGCAGGCAGCATTACCCCCATTTTCCAGATGTGAAGGATGAGGCCCAGTGAGGGGAAGAGCTTGCCACGTAACAGGCCCAGACCTTATGCCCATGTTTCCCCCCTCCCAGGCCCAAGAGTTGTATCCTTAGTACTCACCGGAAACAGGTTGAAAGTGGCAGTGAGGCTGGCCTTGTAGTGCTGGGAGTGGGGTGGGAATAGGGCACATGAGCTTTAGGGTAGAAGGCAGAGCCAGGTGTCTGCCCCATCCCCACTTGCCTATGCAGTACCTGAGACACGCGGGCATTCTTGATGCTGATGGGAGTATGCTGGATGCCCCTCAGACCAAACAGTGCCACCACATCCATGGGTTCCTGGGGGACATGGCCACTGCTCACCATGTGAGGTCACTTTCCCTCTGCCCACCTCTGCAATCCAAGGCCTTCACATTTCACAGCCCTTGCCTGGGCGGTCTCCCTTGCCCGTCCCTGGCAATCACTGCTGCTCCATGTTGTACTCCACCCGAGGCACCCCCCAAGTCCTGCTCACCTCATAGTAGCCGTCAATGAAAACTGTTATCATCTGAGGAGACACCCCCTGGGCTGAAAGCAGAGAGCGCAGCATCCTGGGGAGCCCAGGGATAGGTTAGGGTCACTTCATCACCCCTCAACTCAGGTTCCCCTGTGTTTACAGCTGGGCCCAGAGTCCCTATGCTTACCCACAGAGGTGAATGCGTCTAGAATCTATTGCCTTTCTGCCCACCTCAAGAGTTCCTCCTGGAGGTAGATGACCTAAGCACCCTCCTGTTCAGTGCTGGGTATAGCCCATTCCCAGGCTTACCTGTACAGGTAATTGGGTCGGTTCCCTGCAATGACAGCCACAGGCACATTGAGGACCTTGTTGTCTGGGAGCTGTGGGAGAAATAGCGTTTAGCTCTTGCCTTATTCCCCCTTCAAACTGGGATCCCCACCTAGGGAAGACTTCTCAGGTGAGGGTAGGTGCAGACTGGAGTAGACAGGGAAGGGATAGAGGATCTTCCCTGTTCTGGGCTCTCCACACACTCAGCCCAACTCTAGCGCTGAGCTTTACTCACATGGCCTGCCCCTTCACCCCAGCCCTGTCTTTCAGAGCGCAGTGTAAATCCTGCCCCTGGTTCTCTCCCAGGCTCAGGTAGGGAAAGCCCAACCTAGAT
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Task1_train_885
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A sequence alteration has been identified in POMGNT1, TSPAN1 (protein O-linked mannose N-acetylglucosaminyltransferase 1 (beta 1,2-)| tetraspanin 1) on Chromosome 1. Is it disease-inducing or harmless?
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Pathogenic; Retinitis pigmentosa 76
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GGTATAGCCCATTCCCAGGCTTACCTGTACAGGTAATTGGGTCGGTTCCCTGCAATGACAGCCACAGGCACATTGAGGACCTTGTTGTCTGGGAGCTGTGGGAGAAATAGCGTTTAGCTCTTGCCTTATTCCCCCTTCAAACTGGGATCCCCACCTAGGGAAGACTTCTCAGGTGAGGGTAGGTGCAGACTGGAGTAGACAGGGAAGGGATAGAGGATCTTCCCTGTTCTGGGCTCTCCACACACTCAGCCCAACTCTAGCGCTGAGCTTTACTCACATGGCCTGCCCCTTCACCCCAGCCCTGTCTTTCAGAGCGCAGTGTAAATCCTGCCCCTGGTTCTCTCCCAGGCTCAGGTAGGGAAAGCCCAACCTAGATCATTCCTGGGGCCCCCCTGCTGAGCTGGGAAGGAGTCCAAACCTCACTGTCTTAAGGCCCCACTCACTGGGTCAGGGCTGAACTCGATGGGTGTGGGGTCCTTGCAGCTGCATACACTTCCATAGCCCTCAACTTTGCTGCAGAAGCGCCGGCGGCGACGGTTCAGCTCTGTGTCTGCCCAGTGGCACTCTGCCTCTGAGGGAAGGATGCGGTTGTCATGGAGGCATGGGGCCAGCAAGGTTTGAAGAGCCCCAGGCACACAATCAAAGGAATAAAGCTCCACAGAGAGATCTAAATGCCCACCCCCAGCCCAGGCCCTGCCCCATCCATGCTCCACTAACTCCACCTTCTGCTGAGCTCAATGGCACATCTGTCTTCAGCAGGACTGGGTCCCCCCAGGAAGAGAGGGCAGGTGATTTAGAATGTTTCTCCCCGAAGACAGGACCTGGCAGGAGGCAGGAATGAGGGCCATGGGGGCCCAGACACCAGTTTGGGGGCTTTTTCCCATCTCCCTGCCTACTTTCATCCAACCCACTGCCACTGGCTCCTATTTGTTCCCCACCCCACCCCATCTCCTAGGGTTCTGCTCCTCCCAGGCTCTTGATACTACAGAGTGGATGGCCTCTGATGCCGGCACCTCCTTTTCGTCCCACGAAGGCCCATGTGTCCCTCCAGCCCAGGGCAGGGCCAGCCTGGCTGCCCAGGCTCCTCAGCAGAGCCTTGGCTGTGTCCTTGAGGTGGAAGGAGCCCTCATCCTGGGGGACCAGAGAAGGCAGTTAGCCTGACTGGCATGGTTCCAGGAGACCTGGCCTCACAGAGCACGAACTATGTAGCAACCTTTTACTTAAAATAGCTCATTACATTATTGCAATAACCCTCTATGGTTACTCTCTTTCACAGATAAAATAATAACTGAAGGCTTAGAGATTCTAAGGTCATCCAGCTAATAAGTCCTTTCCACAAACCCACACGATCTGCACCTCTCTCTCCCGCCACTCTCTGCCTTCTTTTCCAACCACTCTCCTACTCTCCTCCCTTATTCTGCTCCACCTCGACTAGCATCTTTGCTGTTCCTCAAATATGCCGTGTACCTTCCCACTATAGGGGCTTTGCACTTGCCATTCTTTCCACCTGGAATGCTCTTCCTCCAGATACTCACCTGGCTCACTCCTCAATTCCTCAGCTTTCTGCTCACATATCATCTCCTTGCAGGGGCCTTCTCTTTCTAAAATGTCCCCTCCCCTCTATCATTCATTATCCCCTGCTTTATTTTCTTCTTTATACAAGTTATCATTTACTAGCATTATCCACATTTACTTGGCTGTTTCTGTTGACCTCCCACTGCTGGAATATAAGCTCCATGAGGGTGGGGACTCTGTCTTGTTTCCCATTGTATCTTCAGCACCCAGAGAAGTACCTGGCATACAGCTGTTGCTCAATAACTATTTGCTGAATTAATACAAATGTTAAGGCTGAGATTGGAACCTGAGTAACCTTCCTTCAGAGAATCTTCCCACTATGTTATATGAGGGGCAGAGAAGCCGGGGCTAGAAGCAGGGTTGGAGCTAGGGAGTAGGGGTCAGGGTCAGGACAGAATAACTGACCTTGACAGTGCAGATGAGCACTCGGCCGGGCGCTACCATGTTGAGGAATAGCACCATGGCCTCATCCTCATGAGGTGAGTACGTGTCAAACACACGTTTTGCCATCACGTGGCCCTGGCAGGGGATATACTTCTGGTGAGTTGGTGTCATCAGCAAGAGCCCAGCTCCAGCCCTCTGGGTCACCCACCCCTAGAAACTCACCGTGGCCTGGTTGAGGACAATGACATGGATGCCCCGGCCCTGCTCCCGGGCCTCATCCTCCAGCACCTACACAGTGGCAGAGACAAAGTCCAGCTTTTCACTCTGGCATTCAAGGTGTCTCTGTCTTAGGGGTACTTAAAACACCAGCTGCTTGAAACATCACCTCCTGCCTATGTTTCTGTTCACACAGTTCTTTTCCAACTCAGCTCGAAGGCCACCTCTTCCAGAAAGCCTCTATAGCACTCCCATCAGAAGAGATCACGTCTTTCTACAACCCTCCCCTCCATGACTTTCATGGCTCTTAGAGCCTCTGCTGTCTCTGCTTCATCCTGGAAGTATCACAATCCTCCACCACACTGAACCCCTCAAGGTAGGGCCAGGTCTGATTACTTTCAGGTCCCCAGTGCCCAGCACAAGGCTGAGGCCAAAGAAAGGACCAGGGGATGGTTATAAAATAAATCAATGAATTGACTGCCTACTATTATGAATGATTACTTTTGAGATCCCACTACATACAAGACACTTCACAAACTTTTCATTGAATCCTGACAAGTAGAAATCATTAGTCCCAGTCTATAGATAAGGAATCGAGGACTCCAAAGTCACACAGCTAGAAACTGGCAGAGTTGCAGTTCCCACTTAGGCAGTAGACCCTGCTGCCAGTGGACCATGCCCTGAGCAGAATAGAGTGACTGTACACCAGACCCTGGCCCACTGACCGTGGTGCCATCCACTGCCACATATACTTTGCTGCGACTTGAATACACCTCTACGTCCAGGACCCGCCGGGGACCACTGCCTCTGCGCCGTGGGGGCTCCAGGCGGCCTAGGGCCTCATCTGTGGGGTACAACAGGTCATGGAGATAGTCTCCTCAGCAGAGTCTCACCGCTTAGGGTCTGCCTGCCACTCCAGCTGTGAGATCCAAGGCCCCCTACCCCATCCTTAGCCTAGCCCTACCATAGTCTTGCTCTGGCTCTGGGTCTTCATTGGCTTCACTGATGGCTCGCCGAGTGTCCAGGATCAACTTGATATTGACAATGACAGTCACCAGCAGGAAAAGCACGGCCCCTGTCTGAGGGGAGGGGTAGGGATGATTAAGAGGAGCACCTCCTTCAGATCCTAGAGGGTCTTTCTGAAAGGAGGGCCCTGGCTGCAGTGAAGACATCCAGAGAAACTGGGTCCTGTCCCTTCCTCTGTCTGCCTAGCTCTACTCCCCTGACCAGGGCCTAGTTTCACAGCCACTTTCCCCAGGGAACCTCCCCTGACACTTCCCCCTCCATTAGGGCCCTCCCTACCCAGTGCTCCTGTATTCTTCTATTTGAGACCTTGATTTCCTTGGTCCCCTCCATTGTTGGTTTCTAGAGATGGAGCCAGGCCCAGGGACCCAAGCGGGGGATCAGACCTGGGTCCTGGCCCTAACTGCCTCACAGGGGTGTGCCTCTCTGCAAAGCCAGCCTGATCAGACTTCAGGCTTCCGTCAGAAGCTTAGAAGTTGTACTTGGGTTCCGATTCCAGAACTTTGGGTTCAAATCATTACCTATAGGGACATGACACATAGAGGTCTCCCCTCTAGGAACCTGCTGCCCCTTTCCCACTGGGGCTGGCCAACAGGGGTCCCAGTGCCTGATTTAGGTGGGGAGGAAGCTGGGAGGGAGCGCTCGGTGGGGAGGGTTTGGGACATCTCTATACCTGACAGAATCTCCGCAGGGCCCGCTGGTTTGTCAGTTTATACTTCCAGGTAAGGTACCAGCTCCGCTTCTTCCGAGCCCCAAAGGGCTTGATGAGGGGGCTGGGCTTCCAGTCGTCCATACCGGATTGGCGGGTCACCAATGTCCTGGCCAGCCCATGACTTCAGGAATCTGAAGGGACCAGAGGGCCACATGGGGTAAGATGCTCCTCCCAAAGTCTGATGCC
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GGTATAGCCCATTCCCAGGCTTACCTGTACAGGTAATTGGGTCGGTTCCCTGCAATGACAGCCACAGGCACATTGAGGACCTTGTTGTCTGGGAGCTGTGGGAGAAATAGCGTTTAGCTCTTGCCTTATTCCCCCTTCAAACTGGGATCCCCACCTAGGGAAGACTTCTCAGGTGAGGGTAGGTGCAGACTGGAGTAGACAGGGAAGGGATAGAGGATCTTCCCTGTTCTGGGCTCTCCACACACTCAGCCCAACTCTAGCGCTGAGCTTTACTCACATGGCCTGCCCCTTCACCCCAGCCCTGTCTTTCAGAGCGCAGTGTAAATCCTGCCCCTGGTTCTCTCCCAGGCTCAGGTAGGGAAAGCCCAACCTAGATCATTCCTGGGGCCCCCCTGCTGAGCTGGGAAGGAGTCCAAACCTCACTGTCTTAAGGCCCCACTCACTGGGTCAGGGCTGAACTCGATGGGTGTGGGGTCCTTGCAGCTGCATACACTTCCATAGCCCTCAACTTTGCTGCAGAAGCGCCGGCGGCGACGGTTCAGCTCTGTGTCTGCCCAGTGGCACTCTGCCTCTGAGGGAAGGATGCGGTTGTCATGGAGGCATGGGGCCAGCAAGGTTTGAAGAGCCCCAGGCACACAATCAAAGGAATAAAGCTCCACAGAGAGATCTAAATGCCCACCCCCAGCCCAGGCCCTGCCCCATCCATGCTCCACTAACTCCACCTTCTGCTGAGCTCAATGGCACATCTGTCTTCAGCAGGACTGGGTCCCCCCAGGAAGAGAGGGCAGGTGATTTAGAATGTTTCTCCCCGAAGACAGGACCTGGCAGGAGGCAGGAATGAGGGCCATGGGGGCCCAGACACCAGTTTGGGGGCTTTTTCCCATCTCCCTGCCTACTTTCATCCAACCCACTGCCACTGGCTCCTATTTGTTCCCCACCCCACCCCATCTCCTAGGGTTCTGCTCCTCCCAGGCTCTTGATACTACAGAGTGGATGGCCTCTGATGCCGGCACCTCCTTTTCGTCCCACGAAGGCCCATGTGTCCCTCCAGCCCAGGGCAGGGCCAGCCTGGCTGCCCAGGCTCCTCAGCAGAGCCTTGGCTGTGTCCTTGAGGTGGAAGGAGCCCTCATCCTGGGGGACCAGAGAAGGCAGTTAGCCTGACTGGCATGGTTCCAGGAGACCTGGCCTCACAGAGCACGAACTATGTAGCAACCTTTTACTTAAAATAGCTCATTACATTATTGCAATAACCCTCTATGGTTACTCTCTTTCACAGATAAAATAATAACTGAAGGCTTAGAGATTCTAAGGTCATCCAGCTAATAAGTCCTTTCCACAAACCCACACGATCTGCACCTCTCTCTCCCGCCACTCTCTGCCTTCTTTTCCAACCACTCTCCTACTCTCCTCCCTTATTCTGCTCCACCTCGACTAGCATCTTTGCTGTTCCTCAAATATGCCGTGTACCTTCCCACTATAGGGGCTTTGCACTTGCCATTCTTTCCACCTGGAATGCTCTTCCTCCAGATACTCACCTGGCTCACTCCTCAATTCCTCAGCTTTCTGCTCACATATCATCTCCTTGCAGGGGCCTTCTCTTTCTAAAATGTCCCCTCCCCTCTATCATTCATTATCCCCTGCTTTATTTTCTTCTTTATACAAGTTATCATTTACTAGCATTATCCACATTTACTTGGCTGTTTCTGTTGACCTCCCACTGCTGGAATATAAGCTCCATGAGGGTGGGGACTCTGTCTTGTTTCCCATTGTATCTTCAGCACCCAGAGAAGTACCTGGCATACAGCTGTTGCTCAATAACTATTTGCTGAATTAATACAAATGTTAAGGCTGAGATTGGAACCTGAGTAACCTTCCTTCAGAGAATCTTCCCACTATGTTATATGAGGGGCAGAGAAGCCGGGGCTAGAAGCAGGGTTGGAGCTAGGGAGTAGGGGTCAGGGTCAGGACAGAATAACTGACCTTGACAGTGCAGATGAGCACTCGGCCGGGCGCTACCATGTTGAGGAATAGCACCATGGCCTCATCCTTATGAGGTGAGTACGTGTCAAACACACGTTTTGCCATCACGTGGCCCTGGCAGGGGATATACTTCTGGTGAGTTGGTGTCATCAGCAAGAGCCCAGCTCCAGCCCTCTGGGTCACCCACCCCTAGAAACTCACCGTGGCCTGGTTGAGGACAATGACATGGATGCCCCGGCCCTGCTCCCGGGCCTCATCCTCCAGCACCTACACAGTGGCAGAGACAAAGTCCAGCTTTTCACTCTGGCATTCAAGGTGTCTCTGTCTTAGGGGTACTTAAAACACCAGCTGCTTGAAACATCACCTCCTGCCTATGTTTCTGTTCACACAGTTCTTTTCCAACTCAGCTCGAAGGCCACCTCTTCCAGAAAGCCTCTATAGCACTCCCATCAGAAGAGATCACGTCTTTCTACAACCCTCCCCTCCATGACTTTCATGGCTCTTAGAGCCTCTGCTGTCTCTGCTTCATCCTGGAAGTATCACAATCCTCCACCACACTGAACCCCTCAAGGTAGGGCCAGGTCTGATTACTTTCAGGTCCCCAGTGCCCAGCACAAGGCTGAGGCCAAAGAAAGGACCAGGGGATGGTTATAAAATAAATCAATGAATTGACTGCCTACTATTATGAATGATTACTTTTGAGATCCCACTACATACAAGACACTTCACAAACTTTTCATTGAATCCTGACAAGTAGAAATCATTAGTCCCAGTCTATAGATAAGGAATCGAGGACTCCAAAGTCACACAGCTAGAAACTGGCAGAGTTGCAGTTCCCACTTAGGCAGTAGACCCTGCTGCCAGTGGACCATGCCCTGAGCAGAATAGAGTGACTGTACACCAGACCCTGGCCCACTGACCGTGGTGCCATCCACTGCCACATATACTTTGCTGCGACTTGAATACACCTCTACGTCCAGGACCCGCCGGGGACCACTGCCTCTGCGCCGTGGGGGCTCCAGGCGGCCTAGGGCCTCATCTGTGGGGTACAACAGGTCATGGAGATAGTCTCCTCAGCAGAGTCTCACCGCTTAGGGTCTGCCTGCCACTCCAGCTGTGAGATCCAAGGCCCCCTACCCCATCCTTAGCCTAGCCCTACCATAGTCTTGCTCTGGCTCTGGGTCTTCATTGGCTTCACTGATGGCTCGCCGAGTGTCCAGGATCAACTTGATATTGACAATGACAGTCACCAGCAGGAAAAGCACGGCCCCTGTCTGAGGGGAGGGGTAGGGATGATTAAGAGGAGCACCTCCTTCAGATCCTAGAGGGTCTTTCTGAAAGGAGGGCCCTGGCTGCAGTGAAGACATCCAGAGAAACTGGGTCCTGTCCCTTCCTCTGTCTGCCTAGCTCTACTCCCCTGACCAGGGCCTAGTTTCACAGCCACTTTCCCCAGGGAACCTCCCCTGACACTTCCCCCTCCATTAGGGCCCTCCCTACCCAGTGCTCCTGTATTCTTCTATTTGAGACCTTGATTTCCTTGGTCCCCTCCATTGTTGGTTTCTAGAGATGGAGCCAGGCCCAGGGACCCAAGCGGGGGATCAGACCTGGGTCCTGGCCCTAACTGCCTCACAGGGGTGTGCCTCTCTGCAAAGCCAGCCTGATCAGACTTCAGGCTTCCGTCAGAAGCTTAGAAGTTGTACTTGGGTTCCGATTCCAGAACTTTGGGTTCAAATCATTACCTATAGGGACATGACACATAGAGGTCTCCCCTCTAGGAACCTGCTGCCCCTTTCCCACTGGGGCTGGCCAACAGGGGTCCCAGTGCCTGATTTAGGTGGGGAGGAAGCTGGGAGGGAGCGCTCGGTGGGGAGGGTTTGGGACATCTCTATACCTGACAGAATCTCCGCAGGGCCCGCTGGTTTGTCAGTTTATACTTCCAGGTAAGGTACCAGCTCCGCTTCTTCCGAGCCCCAAAGGGCTTGATGAGGGGGCTGGGCTTCCAGTCGTCCATACCGGATTGGCGGGTCACCAATGTCCTGGCCAGCCCATGACTTCAGGAATCTGAAGGGACCAGAGGGCCACATGGGGTAAGATGCTCCTCCCAAAGTCTGATGCC
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Task1_train_886
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A variant was discovered in gene POMGNT1, TSPAN1 (protein O-linked mannose N-acetylglucosaminyltransferase 1 (beta 1,2-)| tetraspanin 1), Chromosome 1. Please indicate if this mutation results in a known disease or if it's non-harmful.
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Pathogenic; Retinitis pigmentosa 76
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GTAGACAGGGAAGGGATAGAGGATCTTCCCTGTTCTGGGCTCTCCACACACTCAGCCCAACTCTAGCGCTGAGCTTTACTCACATGGCCTGCCCCTTCACCCCAGCCCTGTCTTTCAGAGCGCAGTGTAAATCCTGCCCCTGGTTCTCTCCCAGGCTCAGGTAGGGAAAGCCCAACCTAGATCATTCCTGGGGCCCCCCTGCTGAGCTGGGAAGGAGTCCAAACCTCACTGTCTTAAGGCCCCACTCACTGGGTCAGGGCTGAACTCGATGGGTGTGGGGTCCTTGCAGCTGCATACACTTCCATAGCCCTCAACTTTGCTGCAGAAGCGCCGGCGGCGACGGTTCAGCTCTGTGTCTGCCCAGTGGCACTCTGCCTCTGAGGGAAGGATGCGGTTGTCATGGAGGCATGGGGCCAGCAAGGTTTGAAGAGCCCCAGGCACACAATCAAAGGAATAAAGCTCCACAGAGAGATCTAAATGCCCACCCCCAGCCCAGGCCCTGCCCCATCCATGCTCCACTAACTCCACCTTCTGCTGAGCTCAATGGCACATCTGTCTTCAGCAGGACTGGGTCCCCCCAGGAAGAGAGGGCAGGTGATTTAGAATGTTTCTCCCCGAAGACAGGACCTGGCAGGAGGCAGGAATGAGGGCCATGGGGGCCCAGACACCAGTTTGGGGGCTTTTTCCCATCTCCCTGCCTACTTTCATCCAACCCACTGCCACTGGCTCCTATTTGTTCCCCACCCCACCCCATCTCCTAGGGTTCTGCTCCTCCCAGGCTCTTGATACTACAGAGTGGATGGCCTCTGATGCCGGCACCTCCTTTTCGTCCCACGAAGGCCCATGTGTCCCTCCAGCCCAGGGCAGGGCCAGCCTGGCTGCCCAGGCTCCTCAGCAGAGCCTTGGCTGTGTCCTTGAGGTGGAAGGAGCCCTCATCCTGGGGGACCAGAGAAGGCAGTTAGCCTGACTGGCATGGTTCCAGGAGACCTGGCCTCACAGAGCACGAACTATGTAGCAACCTTTTACTTAAAATAGCTCATTACATTATTGCAATAACCCTCTATGGTTACTCTCTTTCACAGATAAAATAATAACTGAAGGCTTAGAGATTCTAAGGTCATCCAGCTAATAAGTCCTTTCCACAAACCCACACGATCTGCACCTCTCTCTCCCGCCACTCTCTGCCTTCTTTTCCAACCACTCTCCTACTCTCCTCCCTTATTCTGCTCCACCTCGACTAGCATCTTTGCTGTTCCTCAAATATGCCGTGTACCTTCCCACTATAGGGGCTTTGCACTTGCCATTCTTTCCACCTGGAATGCTCTTCCTCCAGATACTCACCTGGCTCACTCCTCAATTCCTCAGCTTTCTGCTCACATATCATCTCCTTGCAGGGGCCTTCTCTTTCTAAAATGTCCCCTCCCCTCTATCATTCATTATCCCCTGCTTTATTTTCTTCTTTATACAAGTTATCATTTACTAGCATTATCCACATTTACTTGGCTGTTTCTGTTGACCTCCCACTGCTGGAATATAAGCTCCATGAGGGTGGGGACTCTGTCTTGTTTCCCATTGTATCTTCAGCACCCAGAGAAGTACCTGGCATACAGCTGTTGCTCAATAACTATTTGCTGAATTAATACAAATGTTAAGGCTGAGATTGGAACCTGAGTAACCTTCCTTCAGAGAATCTTCCCACTATGTTATATGAGGGGCAGAGAAGCCGGGGCTAGAAGCAGGGTTGGAGCTAGGGAGTAGGGGTCAGGGTCAGGACAGAATAACTGACCTTGACAGTGCAGATGAGCACTCGGCCGGGCGCTACCATGTTGAGGAATAGCACCATGGCCTCATCCTCATGAGGTGAGTACGTGTCAAACACACGTTTTGCCATCACGTGGCCCTGGCAGGGGATATACTTCTGGTGAGTTGGTGTCATCAGCAAGAGCCCAGCTCCAGCCCTCTGGGTCACCCACCCCTAGAAACTCACCGTGGCCTGGTTGAGGACAATGACATGGATGCCCCGGCCCTGCTCCCGGGCCTCATCCTCCAGCACCTACACAGTGGCAGAGACAAAGTCCAGCTTTTCACTCTGGCATTCAAGGTGTCTCTGTCTTAGGGGTACTTAAAACACCAGCTGCTTGAAACATCACCTCCTGCCTATGTTTCTGTTCACACAGTTCTTTTCCAACTCAGCTCGAAGGCCACCTCTTCCAGAAAGCCTCTATAGCACTCCCATCAGAAGAGATCACGTCTTTCTACAACCCTCCCCTCCATGACTTTCATGGCTCTTAGAGCCTCTGCTGTCTCTGCTTCATCCTGGAAGTATCACAATCCTCCACCACACTGAACCCCTCAAGGTAGGGCCAGGTCTGATTACTTTCAGGTCCCCAGTGCCCAGCACAAGGCTGAGGCCAAAGAAAGGACCAGGGGATGGTTATAAAATAAATCAATGAATTGACTGCCTACTATTATGAATGATTACTTTTGAGATCCCACTACATACAAGACACTTCACAAACTTTTCATTGAATCCTGACAAGTAGAAATCATTAGTCCCAGTCTATAGATAAGGAATCGAGGACTCCAAAGTCACACAGCTAGAAACTGGCAGAGTTGCAGTTCCCACTTAGGCAGTAGACCCTGCTGCCAGTGGACCATGCCCTGAGCAGAATAGAGTGACTGTACACCAGACCCTGGCCCACTGACCGTGGTGCCATCCACTGCCACATATACTTTGCTGCGACTTGAATACACCTCTACGTCCAGGACCCGCCGGGGACCACTGCCTCTGCGCCGTGGGGGCTCCAGGCGGCCTAGGGCCTCATCTGTGGGGTACAACAGGTCATGGAGATAGTCTCCTCAGCAGAGTCTCACCGCTTAGGGTCTGCCTGCCACTCCAGCTGTGAGATCCAAGGCCCCCTACCCCATCCTTAGCCTAGCCCTACCATAGTCTTGCTCTGGCTCTGGGTCTTCATTGGCTTCACTGATGGCTCGCCGAGTGTCCAGGATCAACTTGATATTGACAATGACAGTCACCAGCAGGAAAAGCACGGCCCCTGTCTGAGGGGAGGGGTAGGGATGATTAAGAGGAGCACCTCCTTCAGATCCTAGAGGGTCTTTCTGAAAGGAGGGCCCTGGCTGCAGTGAAGACATCCAGAGAAACTGGGTCCTGTCCCTTCCTCTGTCTGCCTAGCTCTACTCCCCTGACCAGGGCCTAGTTTCACAGCCACTTTCCCCAGGGAACCTCCCCTGACACTTCCCCCTCCATTAGGGCCCTCCCTACCCAGTGCTCCTGTATTCTTCTATTTGAGACCTTGATTTCCTTGGTCCCCTCCATTGTTGGTTTCTAGAGATGGAGCCAGGCCCAGGGACCCAAGCGGGGGATCAGACCTGGGTCCTGGCCCTAACTGCCTCACAGGGGTGTGCCTCTCTGCAAAGCCAGCCTGATCAGACTTCAGGCTTCCGTCAGAAGCTTAGAAGTTGTACTTGGGTTCCGATTCCAGAACTTTGGGTTCAAATCATTACCTATAGGGACATGACACATAGAGGTCTCCCCTCTAGGAACCTGCTGCCCCTTTCCCACTGGGGCTGGCCAACAGGGGTCCCAGTGCCTGATTTAGGTGGGGAGGAAGCTGGGAGGGAGCGCTCGGTGGGGAGGGTTTGGGACATCTCTATACCTGACAGAATCTCCGCAGGGCCCGCTGGTTTGTCAGTTTATACTTCCAGGTAAGGTACCAGCTCCGCTTCTTCCGAGCCCCAAAGGGCTTGATGAGGGGGCTGGGCTTCCAGTCGTCCATACCGGATTGGCGGGTCACCAATGTCCTGGCCAGCCCATGACTTCAGGAATCTGAAGGGACCAGAGGGCCACATGGGGTAAGATGCTCCTCCCAAAGTCTGATGCCTTCTGGGGAGATGAGGGAGGACCTCCCAGCAACTCTTCCCTGCAAGCACCCATACTGTGTGACATGGGGAAAGTGGCTCAACTTCTCTGGGCTGGCAGGAAACCCTTCAGTGGGGTTGGATCACCTGGAAATTCCCTGAGACTGGAGTAACTCTCTGAATCAAGGCTGTCCAAGGGTGGAGGCCAAATAATCGG
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GTAGACAGGGAAGGGATAGAGGATCTTCCCTGTTCTGGGCTCTCCACACACTCAGCCCAACTCTAGCGCTGAGCTTTACTCACATGGCCTGCCCCTTCACCCCAGCCCTGTCTTTCAGAGCGCAGTGTAAATCCTGCCCCTGGTTCTCTCCCAGGCTCAGGTAGGGAAAGCCCAACCTAGATCATTCCTGGGGCCCCCCTGCTGAGCTGGGAAGGAGTCCAAACCTCACTGTCTTAAGGCCCCACTCACTGGGTCAGGGCTGAACTCGATGGGTGTGGGGTCCTTGCAGCTGCATACACTTCCATAGCCCTCAACTTTGCTGCAGAAGCGCCGGCGGCGACGGTTCAGCTCTGTGTCTGCCCAGTGGCACTCTGCCTCTGAGGGAAGGATGCGGTTGTCATGGAGGCATGGGGCCAGCAAGGTTTGAAGAGCCCCAGGCACACAATCAAAGGAATAAAGCTCCACAGAGAGATCTAAATGCCCACCCCCAGCCCAGGCCCTGCCCCATCCATGCTCCACTAACTCCACCTTCTGCTGAGCTCAATGGCACATCTGTCTTCAGCAGGACTGGGTCCCCCCAGGAAGAGAGGGCAGGTGATTTAGAATGTTTCTCCCCGAAGACAGGACCTGGCAGGAGGCAGGAATGAGGGCCATGGGGGCCCAGACACCAGTTTGGGGGCTTTTTCCCATCTCCCTGCCTACTTTCATCCAACCCACTGCCACTGGCTCCTATTTGTTCCCCACCCCACCCCATCTCCTAGGGTTCTGCTCCTCCCAGGCTCTTGATACTACAGAGTGGATGGCCTCTGATGCCGGCACCTCCTTTTCGTCCCACGAAGGCCCATGTGTCCCTCCAGCCCAGGGCAGGGCCAGCCTGGCTGCCCAGGCTCCTCAGCAGAGCCTTGGCTGTGTCCTTGAGGTGGAAGGAGCCCTCATCCTGGGGGACCAGAGAAGGCAGTTAGCCTGACTGGCATGGTTCCAGGAGACCTGGCCTCACAGAGCACGAACTATGTAGCAACCTTTTACTTAAAATAGCTCATTACATTATTGCAATAACCCTCTATGGTTACTCTCTTTCACAGATAAAATAATAACTGAAGGCTTAGAGATTCTAAGGTCATCCAGCTAATAAGTCCTTTCCACAAACCCACACGATCTGCACCTCTCTCTCCCGCCACTCTCTGCCTTCTTTTCCAACCACTCTCCTACTCTCCTCCCTTATTCTGCTCCACCTCGACTAGCATCTTTGCTGTTCCTCAAATATGCCGTGTACCTTCCCACTATAGGGGCTTTGCACTTGCCATTCTTTCCACCTGGAATGCTCTTCCTCCAGATACTCACCTGGCTCACTCCTCAATTCCTCAGCTTTCTGCTCACATATCATCTCCTTGCAGGGGCCTTCTCTTTCTAAAATGTCCCCTCCCCTCTATCATTCATTATCCCCTGCTTTATTTTCTTCTTTATACAAGTTATCATTTACTAGCATTATCCACATTTACTTGGCTGTTTCTGTTGACCTCCCACTGCTGGAATATAAGCTCCATGAGGGTGGGGACTCTGTCTTGTTTCCCATTGTATCTTCAGCACCCAGAGAAGTACCTGGCATACAGCTGTTGCTCAATAACTATTTGCTGAATTAATACAAATGTTAAGGCTGAGATTGGAACCTGAGTAACCTTCCTTCAGAGAATCTTCCCACTATGTTATATGAGGGGCAGAGAAGCCGGGGCTAGAAGCAGGGTTGGAGCTAGGGAGTAGGGGTCAGGGTCAGGACAGAATAACTGACCTTGACAGTGCAGATGAGCACTCGGCCGGGCGCTACCATGTTGAGGAATAGCACCATGGCCTCATCCTCATGAGGTGAGTACGTGTCAAACACACGTTTTGCCATCACGTGGCCCTGGCAGGGGATATACTTCTGGTGAGTTGGTGTCATCAGCAAGAGCCCAGCTCCAGCCCTCTGGGTCACCCACCCCTAGAAACTCACCGTGGCCTGGTTGAGGACAATGACATGGATGCCCCGGCCCTGCTCCCGGGCCTCATCCTCCCGCACCTACACAGTGGCAGAGACAAAGTCCAGCTTTTCACTCTGGCATTCAAGGTGTCTCTGTCTTAGGGGTACTTAAAACACCAGCTGCTTGAAACATCACCTCCTGCCTATGTTTCTGTTCACACAGTTCTTTTCCAACTCAGCTCGAAGGCCACCTCTTCCAGAAAGCCTCTATAGCACTCCCATCAGAAGAGATCACGTCTTTCTACAACCCTCCCCTCCATGACTTTCATGGCTCTTAGAGCCTCTGCTGTCTCTGCTTCATCCTGGAAGTATCACAATCCTCCACCACACTGAACCCCTCAAGGTAGGGCCAGGTCTGATTACTTTCAGGTCCCCAGTGCCCAGCACAAGGCTGAGGCCAAAGAAAGGACCAGGGGATGGTTATAAAATAAATCAATGAATTGACTGCCTACTATTATGAATGATTACTTTTGAGATCCCACTACATACAAGACACTTCACAAACTTTTCATTGAATCCTGACAAGTAGAAATCATTAGTCCCAGTCTATAGATAAGGAATCGAGGACTCCAAAGTCACACAGCTAGAAACTGGCAGAGTTGCAGTTCCCACTTAGGCAGTAGACCCTGCTGCCAGTGGACCATGCCCTGAGCAGAATAGAGTGACTGTACACCAGACCCTGGCCCACTGACCGTGGTGCCATCCACTGCCACATATACTTTGCTGCGACTTGAATACACCTCTACGTCCAGGACCCGCCGGGGACCACTGCCTCTGCGCCGTGGGGGCTCCAGGCGGCCTAGGGCCTCATCTGTGGGGTACAACAGGTCATGGAGATAGTCTCCTCAGCAGAGTCTCACCGCTTAGGGTCTGCCTGCCACTCCAGCTGTGAGATCCAAGGCCCCCTACCCCATCCTTAGCCTAGCCCTACCATAGTCTTGCTCTGGCTCTGGGTCTTCATTGGCTTCACTGATGGCTCGCCGAGTGTCCAGGATCAACTTGATATTGACAATGACAGTCACCAGCAGGAAAAGCACGGCCCCTGTCTGAGGGGAGGGGTAGGGATGATTAAGAGGAGCACCTCCTTCAGATCCTAGAGGGTCTTTCTGAAAGGAGGGCCCTGGCTGCAGTGAAGACATCCAGAGAAACTGGGTCCTGTCCCTTCCTCTGTCTGCCTAGCTCTACTCCCCTGACCAGGGCCTAGTTTCACAGCCACTTTCCCCAGGGAACCTCCCCTGACACTTCCCCCTCCATTAGGGCCCTCCCTACCCAGTGCTCCTGTATTCTTCTATTTGAGACCTTGATTTCCTTGGTCCCCTCCATTGTTGGTTTCTAGAGATGGAGCCAGGCCCAGGGACCCAAGCGGGGGATCAGACCTGGGTCCTGGCCCTAACTGCCTCACAGGGGTGTGCCTCTCTGCAAAGCCAGCCTGATCAGACTTCAGGCTTCCGTCAGAAGCTTAGAAGTTGTACTTGGGTTCCGATTCCAGAACTTTGGGTTCAAATCATTACCTATAGGGACATGACACATAGAGGTCTCCCCTCTAGGAACCTGCTGCCCCTTTCCCACTGGGGCTGGCCAACAGGGGTCCCAGTGCCTGATTTAGGTGGGGAGGAAGCTGGGAGGGAGCGCTCGGTGGGGAGGGTTTGGGACATCTCTATACCTGACAGAATCTCCGCAGGGCCCGCTGGTTTGTCAGTTTATACTTCCAGGTAAGGTACCAGCTCCGCTTCTTCCGAGCCCCAAAGGGCTTGATGAGGGGGCTGGGCTTCCAGTCGTCCATACCGGATTGGCGGGTCACCAATGTCCTGGCCAGCCCATGACTTCAGGAATCTGAAGGGACCAGAGGGCCACATGGGGTAAGATGCTCCTCCCAAAGTCTGATGCCTTCTGGGGAGATGAGGGAGGACCTCCCAGCAACTCTTCCCTGCAAGCACCCATACTGTGTGACATGGGGAAAGTGGCTCAACTTCTCTGGGCTGGCAGGAAACCCTTCAGTGGGGTTGGATCACCTGGAAATTCCCTGAGACTGGAGTAACTCTCTGAATCAAGGCTGTCCAAGGGTGGAGGCCAAATAATCGG
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Task1_train_887
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A change on Chromosome 1 affects gene POMGNT1 (protein O-linked mannose N-acetylglucosaminyltransferase 1 (beta 1,2-)). Identify whether the variant is neutral or disease-linked. Mention the disease if applicable.
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Pathogenic; Autosomal recessive limb-girdle muscular dystrophy type 2O
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GCTAGGGAGTAGGGGTCAGGGTCAGGACAGAATAACTGACCTTGACAGTGCAGATGAGCACTCGGCCGGGCGCTACCATGTTGAGGAATAGCACCATGGCCTCATCCTCATGAGGTGAGTACGTGTCAAACACACGTTTTGCCATCACGTGGCCCTGGCAGGGGATATACTTCTGGTGAGTTGGTGTCATCAGCAAGAGCCCAGCTCCAGCCCTCTGGGTCACCCACCCCTAGAAACTCACCGTGGCCTGGTTGAGGACAATGACATGGATGCCCCGGCCCTGCTCCCGGGCCTCATCCTCCAGCACCTACACAGTGGCAGAGACAAAGTCCAGCTTTTCACTCTGGCATTCAAGGTGTCTCTGTCTTAGGGGTACTTAAAACACCAGCTGCTTGAAACATCACCTCCTGCCTATGTTTCTGTTCACACAGTTCTTTTCCAACTCAGCTCGAAGGCCACCTCTTCCAGAAAGCCTCTATAGCACTCCCATCAGAAGAGATCACGTCTTTCTACAACCCTCCCCTCCATGACTTTCATGGCTCTTAGAGCCTCTGCTGTCTCTGCTTCATCCTGGAAGTATCACAATCCTCCACCACACTGAACCCCTCAAGGTAGGGCCAGGTCTGATTACTTTCAGGTCCCCAGTGCCCAGCACAAGGCTGAGGCCAAAGAAAGGACCAGGGGATGGTTATAAAATAAATCAATGAATTGACTGCCTACTATTATGAATGATTACTTTTGAGATCCCACTACATACAAGACACTTCACAAACTTTTCATTGAATCCTGACAAGTAGAAATCATTAGTCCCAGTCTATAGATAAGGAATCGAGGACTCCAAAGTCACACAGCTAGAAACTGGCAGAGTTGCAGTTCCCACTTAGGCAGTAGACCCTGCTGCCAGTGGACCATGCCCTGAGCAGAATAGAGTGACTGTACACCAGACCCTGGCCCACTGACCGTGGTGCCATCCACTGCCACATATACTTTGCTGCGACTTGAATACACCTCTACGTCCAGGACCCGCCGGGGACCACTGCCTCTGCGCCGTGGGGGCTCCAGGCGGCCTAGGGCCTCATCTGTGGGGTACAACAGGTCATGGAGATAGTCTCCTCAGCAGAGTCTCACCGCTTAGGGTCTGCCTGCCACTCCAGCTGTGAGATCCAAGGCCCCCTACCCCATCCTTAGCCTAGCCCTACCATAGTCTTGCTCTGGCTCTGGGTCTTCATTGGCTTCACTGATGGCTCGCCGAGTGTCCAGGATCAACTTGATATTGACAATGACAGTCACCAGCAGGAAAAGCACGGCCCCTGTCTGAGGGGAGGGGTAGGGATGATTAAGAGGAGCACCTCCTTCAGATCCTAGAGGGTCTTTCTGAAAGGAGGGCCCTGGCTGCAGTGAAGACATCCAGAGAAACTGGGTCCTGTCCCTTCCTCTGTCTGCCTAGCTCTACTCCCCTGACCAGGGCCTAGTTTCACAGCCACTTTCCCCAGGGAACCTCCCCTGACACTTCCCCCTCCATTAGGGCCCTCCCTACCCAGTGCTCCTGTATTCTTCTATTTGAGACCTTGATTTCCTTGGTCCCCTCCATTGTTGGTTTCTAGAGATGGAGCCAGGCCCAGGGACCCAAGCGGGGGATCAGACCTGGGTCCTGGCCCTAACTGCCTCACAGGGGTGTGCCTCTCTGCAAAGCCAGCCTGATCAGACTTCAGGCTTCCGTCAGAAGCTTAGAAGTTGTACTTGGGTTCCGATTCCAGAACTTTGGGTTCAAATCATTACCTATAGGGACATGACACATAGAGGTCTCCCCTCTAGGAACCTGCTGCCCCTTTCCCACTGGGGCTGGCCAACAGGGGTCCCAGTGCCTGATTTAGGTGGGGAGGAAGCTGGGAGGGAGCGCTCGGTGGGGAGGGTTTGGGACATCTCTATACCTGACAGAATCTCCGCAGGGCCCGCTGGTTTGTCAGTTTATACTTCCAGGTAAGGTACCAGCTCCGCTTCTTCCGAGCCCCAAAGGGCTTGATGAGGGGGCTGGGCTTCCAGTCGTCCATACCGGATTGGCGGGTCACCAATGTCCTGGCCAGCCCATGACTTCAGGAATCTGAAGGGACCAGAGGGCCACATGGGGTAAGATGCTCCTCCCAAAGTCTGATGCCTTCTGGGGAGATGAGGGAGGACCTCCCAGCAACTCTTCCCTGCAAGCACCCATACTGTGTGACATGGGGAAAGTGGCTCAACTTCTCTGGGCTGGCAGGAAACCCTTCAGTGGGGTTGGATCACCTGGAAATTCCCTGAGACTGGAGTAACTCTCTGAATCAAGGCTGTCCAAGGGTGGAGGCCAAATAATCGGCTCAAAGTTCGTTAGCCCCTACAAGGACCAAGTTCCAGGCCTTCCCAAGCCTGTGGTGAGCAAAGAGCGACCTCTCCTGCCCCAGTCTTCAACCCTCGTCCCATCCTATCTGCCCCAGCTTCTCTCCTCCTCCCAGGGCCCGGAGCCGCCCGAGGGCTCAGGAGACCTGCACCGGCAGCGCTACCCGTTCCGGACACCCACGCGGAGGCACTCACGGCTTAGGGGCCCCGGGCCCCGCTCGGGCCCCGCTAGGGCCCTCACTGCTCGGCCCGGCTCGCCGCGGCCTCCGCCTCCTCCATGCCGCTTGCGGCCCCGCCCCGGCCTGGCCCGCCCCCCCGCTTCCGCCGCCGCCGCCGCCGCCGCTGCCGCGGGGTGAGAGGGCGACGGGCGGTGCTTAGGGCGGCGGCGGCGGCGGCGGCGGTGGCGGCAGCGGCGTCGGGGTGTAAGCAGCCAGCGAGTAAGGCGAATGCTCAGACCGTGCTAGGCAGCTTCGCAGCCCGGCTGGCTGGTGGGGCTGCCTGCACGAGAGCAGCCCGCTCCCCAGCACCGCCGATGGCAAGCCCGACTCCAGTCAGAGGCCTAGCACCTTGGACCAGATCACAGGGCACGCCAGGGTCAGAGGGGCTGCAACCCTTGGACACAGGGCACACACCACCCGCCCCATACCCGTCCTGGGCAAGGCCGTTACCTAGTCCTGGGGCATGCACAGCTATTGGAGGCCAAGGGAGATTAAAATCCAGGTTCTGTCACTGTTCTAAGCACCTTACTGATGATGTTTAATTCCACAACAACCCCATGAGGTAGGCGCTATTATCATTATTATTGTTTTTTTTTTAATTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCACCATCTCGGCTCGCTGCAACCTCCGCCTTCTGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGACTACGGTCGTGCGCCACCACACCCAGCTAATTTTTATATTTTTAGTAGAGACGGGGTTTCACCATGTTGGCCAGGCTGGTCTTGAACTTCTGACCTCAAGTGATCCGCCCGCCTTGGCCTCCCAAAGTGCTGGGATTATGGGCAGTGAGCCACCGTGCTGGCTATAGGCGCTATTACTATCCCTGTCGCAGATAAAGAAATAAGACCTAATATCACAAAGCTAGGAGAGGTGGAATTGAAACTCAGCCTAGCTCCAGATTCTGCTCTTAACCACTGCACTCTGCTGGCAACAATACATAAGAATTGCCAGGTTTAAATAACATCATACATAGAAAGCAGTTAGCTTAACACAATGGTTCTCAAACTTTAGCTTGCGTCAGAATCACCTGGATGACTTCTTAAAACAGAGGTGCTGGGCCCCATCCCTAGAGTTTTAGATTCAGTGGTCTGGGGCAGGGTGGGATTTTGCATTCCTGAGAAGTTTCTAGGTGATGTTGATGCTTGTTTGAAGTGGATAGCCATAGAACAGTTTTAGGCAGGGGAGCAATATAATCCAATTTCTGTTTTAAGAGAACCTTTACTTTTTTTGTGGAGAATGGGTTGGAAGCAGACAGAGGAAGCCAGAAGACCAGTTAGATTTTTTTGAGCTTTCTGTATTCCATCTGCTTCCTGAATGGTGGGGTAATATCCCCCAAAATGAAATGTTAACAGTACTTGTCTTAGGAGTTAAAGAAATACATGATTTTTCCTAGTAAGTATGTATAAGAATGGAAGAAAACCCAACACAT
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GCTAGGGAGTAGGGGTCAGGGTCAGGACAGAATAACTGACCTTGACAGTGCAGATGAGCACTCGGCCGGGCGCTACCATGTTGAGGAATAGCACCATGGCCTCATCCTCATGAGGTGAGTACGTGTCAAACACACGTTTTGCCATCACGTGGCCCTGGCAGGGGATATACTTCTGGTGAGTTGGTGTCATCAGCAAGAGCCCAGCTCCAGCCCTCTGGGTCACCCACCCCTAGAAACTCACCGTGGCCTGGTTGAGGACAATGACATGGATGCCCCGGCCCTGCTCCCGGGCCTCATCCTCCAGCACCTACACAGTGGCAGAGACAAAGTCCAGCTTTTCACTCTGGCATTCAAGGTGTCTCTGTCTTAGGGGTACTTAAAACACCAGCTGCTTGAAACATCACCTCCTGCCTATGTTTCTGTTCACACAGTTCTTTTCCAACTCAGCTCGAAGGCCACCTCTTCCAGAAAGCCTCTATAGCACTCCCATCAGAAGAGATCACGTCTTTCTACAACCCTCCCCTCCATGACTTTCATGGCTCTTAGAGCCTCTGCTGTCTCTGCTTCATCCTGGAAGTATCACAATCCTCCACCACACTGAACCCCTCAAGGTAGGGCCAGGTCTGATTACTTTCAGGTCCCCAGTGCCCAGCACAAGGCTGAGGCCAAAGAAAGGACCAGGGGATGGTTATAAAATAAATCAATGAATTGACTGCCTACTATTATGAATGATTACTTTTGAGATCCCACTACATACAAGACACTTCACAAACTTTTCATTGAATCCTGACAAGTAGAAATCATTAGTCCCAGTCTATAGATAAGGAATCGAGGACTCCAAAGTCACACAGCTAGAAACTGGCAGAGTTGCAGTTCCCACTTAGGCAGTAGACCCTGCTGCCAGTGGACCATGCCCTGAGCAGAATAGAGTGACTGTACACCAGACCCTGGCCCACTGACCGTGGTGCCATCCACTGCCACATATACTTTGCTGCGACTTGAATACACCTCTACGTCCAGGACCCGCCGGGGACCACTGCCTCTGCGCCGTGGGGGCTCCAGGCGGCCTAGGGCCTCATCTGTGGGGTACAACAGGTCATGGAGATAGTCTCCTCAGCAGAGTCTCACCGCTTAGGGTCTGCCTGCCACTCCAGCTGTGAGATCCAAGGCCCCCTACCCCATCCTTAGCCTAGCCCTACCATAGTCTTGCTCTGGCTCTGGGTCTTCATTGGCTTCACTGATGGCTCGCCGAGTGTCCAGGATCAACTTGATATTGACAATGACAGTCACCAGCAGGAAAAGCACGGCCCCTGTCTGAGGGGAGGGGTAGGGATGATTAAGAGGAGCACCTCCTTCAGATCCTAGAGGGTCTTTCTGAAAGGAGGGCCCTGGCTGCAGTGAAGACATCCAGAGAAACTGGGTCCTGTCCCTTCCTCTGTCTGCCTAGCTCTACTCCCCTGACCAGGGCCTAGTTTCACAGCCACTTTCCCCAGGGAACCTCCCCTGACACTTCCCCCTCCATTAGGGCCCTCCCTACCCAGTGCTCCTGTATTCTTCTATTTGAGACCTTGATTTCCTTGGTCCCCTCCATTGTTGGTTTCTAGAGATGGAGCCAGGCCCAGGGACCCAAGCGGGGGATCAGACCTGGGTCCTGGCCCTAACTGCCTCACAGGGGTGTGCCTCTCTGCAAAGCCAGCCTGATCAGACTTCAGGCTTCCGTCAGAAGCTTAGAAGTTGTACTTGGGTTCCGATTCCAGAACTTTGGGTTCAAATCATTACCTATAGGGACATGACACATAGAGGTCTCCCCTCTAGGAACCTGCTGCCCCTTTCCCACTGGGGCTGGCCAACAGGGGTCCCAGTGCCTGATTTAGGTGGGGAGGAAGCTGGGAGGGAGCGCTCGGTGGGGAGGGTTTGGGACATCTCTATACCTGACAGAATCTCCGCAGGGCCCGCTGGTTTGTCAGTTTATACTTCCAGGTAAGGTACCAGCTCCGCTTCTTCCGAGCCCCAAAGGGCTTGATGAGGGGGCTGGGCTTCCAGTCGTCTATACCGGATTGGCGGGTCACCAATGTCCTGGCCAGCCCATGACTTCAGGAATCTGAAGGGACCAGAGGGCCACATGGGGTAAGATGCTCCTCCCAAAGTCTGATGCCTTCTGGGGAGATGAGGGAGGACCTCCCAGCAACTCTTCCCTGCAAGCACCCATACTGTGTGACATGGGGAAAGTGGCTCAACTTCTCTGGGCTGGCAGGAAACCCTTCAGTGGGGTTGGATCACCTGGAAATTCCCTGAGACTGGAGTAACTCTCTGAATCAAGGCTGTCCAAGGGTGGAGGCCAAATAATCGGCTCAAAGTTCGTTAGCCCCTACAAGGACCAAGTTCCAGGCCTTCCCAAGCCTGTGGTGAGCAAAGAGCGACCTCTCCTGCCCCAGTCTTCAACCCTCGTCCCATCCTATCTGCCCCAGCTTCTCTCCTCCTCCCAGGGCCCGGAGCCGCCCGAGGGCTCAGGAGACCTGCACCGGCAGCGCTACCCGTTCCGGACACCCACGCGGAGGCACTCACGGCTTAGGGGCCCCGGGCCCCGCTCGGGCCCCGCTAGGGCCCTCACTGCTCGGCCCGGCTCGCCGCGGCCTCCGCCTCCTCCATGCCGCTTGCGGCCCCGCCCCGGCCTGGCCCGCCCCCCCGCTTCCGCCGCCGCCGCCGCCGCCGCTGCCGCGGGGTGAGAGGGCGACGGGCGGTGCTTAGGGCGGCGGCGGCGGCGGCGGCGGTGGCGGCAGCGGCGTCGGGGTGTAAGCAGCCAGCGAGTAAGGCGAATGCTCAGACCGTGCTAGGCAGCTTCGCAGCCCGGCTGGCTGGTGGGGCTGCCTGCACGAGAGCAGCCCGCTCCCCAGCACCGCCGATGGCAAGCCCGACTCCAGTCAGAGGCCTAGCACCTTGGACCAGATCACAGGGCACGCCAGGGTCAGAGGGGCTGCAACCCTTGGACACAGGGCACACACCACCCGCCCCATACCCGTCCTGGGCAAGGCCGTTACCTAGTCCTGGGGCATGCACAGCTATTGGAGGCCAAGGGAGATTAAAATCCAGGTTCTGTCACTGTTCTAAGCACCTTACTGATGATGTTTAATTCCACAACAACCCCATGAGGTAGGCGCTATTATCATTATTATTGTTTTTTTTTTAATTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCACCATCTCGGCTCGCTGCAACCTCCGCCTTCTGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGACTACGGTCGTGCGCCACCACACCCAGCTAATTTTTATATTTTTAGTAGAGACGGGGTTTCACCATGTTGGCCAGGCTGGTCTTGAACTTCTGACCTCAAGTGATCCGCCCGCCTTGGCCTCCCAAAGTGCTGGGATTATGGGCAGTGAGCCACCGTGCTGGCTATAGGCGCTATTACTATCCCTGTCGCAGATAAAGAAATAAGACCTAATATCACAAAGCTAGGAGAGGTGGAATTGAAACTCAGCCTAGCTCCAGATTCTGCTCTTAACCACTGCACTCTGCTGGCAACAATACATAAGAATTGCCAGGTTTAAATAACATCATACATAGAAAGCAGTTAGCTTAACACAATGGTTCTCAAACTTTAGCTTGCGTCAGAATCACCTGGATGACTTCTTAAAACAGAGGTGCTGGGCCCCATCCCTAGAGTTTTAGATTCAGTGGTCTGGGGCAGGGTGGGATTTTGCATTCCTGAGAAGTTTCTAGGTGATGTTGATGCTTGTTTGAAGTGGATAGCCATAGAACAGTTTTAGGCAGGGGAGCAATATAATCCAATTTCTGTTTTAAGAGAACCTTTACTTTTTTTGTGGAGAATGGGTTGGAAGCAGACAGAGGAAGCCAGAAGACCAGTTAGATTTTTTTGAGCTTTCTGTATTCCATCTGCTTCCTGAATGGTGGGGTAATATCCCCCAAAATGAAATGTTAACAGTACTTGTCTTAGGAGTTAAAGAAATACATGATTTTTCCTAGTAAGTATGTATAAGAATGGAAGAAAACCCAACACAT
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Task1_train_888
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A genomic change on Chromosome 1 affects POMGNT1 (protein O-linked mannose N-acetylglucosaminyltransferase 1 (beta 1,2-)). Classify this variant as benign or pathogenic, and name the disease if relevant.
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Pathogenic; Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B3
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GCTAGGGAGTAGGGGTCAGGGTCAGGACAGAATAACTGACCTTGACAGTGCAGATGAGCACTCGGCCGGGCGCTACCATGTTGAGGAATAGCACCATGGCCTCATCCTCATGAGGTGAGTACGTGTCAAACACACGTTTTGCCATCACGTGGCCCTGGCAGGGGATATACTTCTGGTGAGTTGGTGTCATCAGCAAGAGCCCAGCTCCAGCCCTCTGGGTCACCCACCCCTAGAAACTCACCGTGGCCTGGTTGAGGACAATGACATGGATGCCCCGGCCCTGCTCCCGGGCCTCATCCTCCAGCACCTACACAGTGGCAGAGACAAAGTCCAGCTTTTCACTCTGGCATTCAAGGTGTCTCTGTCTTAGGGGTACTTAAAACACCAGCTGCTTGAAACATCACCTCCTGCCTATGTTTCTGTTCACACAGTTCTTTTCCAACTCAGCTCGAAGGCCACCTCTTCCAGAAAGCCTCTATAGCACTCCCATCAGAAGAGATCACGTCTTTCTACAACCCTCCCCTCCATGACTTTCATGGCTCTTAGAGCCTCTGCTGTCTCTGCTTCATCCTGGAAGTATCACAATCCTCCACCACACTGAACCCCTCAAGGTAGGGCCAGGTCTGATTACTTTCAGGTCCCCAGTGCCCAGCACAAGGCTGAGGCCAAAGAAAGGACCAGGGGATGGTTATAAAATAAATCAATGAATTGACTGCCTACTATTATGAATGATTACTTTTGAGATCCCACTACATACAAGACACTTCACAAACTTTTCATTGAATCCTGACAAGTAGAAATCATTAGTCCCAGTCTATAGATAAGGAATCGAGGACTCCAAAGTCACACAGCTAGAAACTGGCAGAGTTGCAGTTCCCACTTAGGCAGTAGACCCTGCTGCCAGTGGACCATGCCCTGAGCAGAATAGAGTGACTGTACACCAGACCCTGGCCCACTGACCGTGGTGCCATCCACTGCCACATATACTTTGCTGCGACTTGAATACACCTCTACGTCCAGGACCCGCCGGGGACCACTGCCTCTGCGCCGTGGGGGCTCCAGGCGGCCTAGGGCCTCATCTGTGGGGTACAACAGGTCATGGAGATAGTCTCCTCAGCAGAGTCTCACCGCTTAGGGTCTGCCTGCCACTCCAGCTGTGAGATCCAAGGCCCCCTACCCCATCCTTAGCCTAGCCCTACCATAGTCTTGCTCTGGCTCTGGGTCTTCATTGGCTTCACTGATGGCTCGCCGAGTGTCCAGGATCAACTTGATATTGACAATGACAGTCACCAGCAGGAAAAGCACGGCCCCTGTCTGAGGGGAGGGGTAGGGATGATTAAGAGGAGCACCTCCTTCAGATCCTAGAGGGTCTTTCTGAAAGGAGGGCCCTGGCTGCAGTGAAGACATCCAGAGAAACTGGGTCCTGTCCCTTCCTCTGTCTGCCTAGCTCTACTCCCCTGACCAGGGCCTAGTTTCACAGCCACTTTCCCCAGGGAACCTCCCCTGACACTTCCCCCTCCATTAGGGCCCTCCCTACCCAGTGCTCCTGTATTCTTCTATTTGAGACCTTGATTTCCTTGGTCCCCTCCATTGTTGGTTTCTAGAGATGGAGCCAGGCCCAGGGACCCAAGCGGGGGATCAGACCTGGGTCCTGGCCCTAACTGCCTCACAGGGGTGTGCCTCTCTGCAAAGCCAGCCTGATCAGACTTCAGGCTTCCGTCAGAAGCTTAGAAGTTGTACTTGGGTTCCGATTCCAGAACTTTGGGTTCAAATCATTACCTATAGGGACATGACACATAGAGGTCTCCCCTCTAGGAACCTGCTGCCCCTTTCCCACTGGGGCTGGCCAACAGGGGTCCCAGTGCCTGATTTAGGTGGGGAGGAAGCTGGGAGGGAGCGCTCGGTGGGGAGGGTTTGGGACATCTCTATACCTGACAGAATCTCCGCAGGGCCCGCTGGTTTGTCAGTTTATACTTCCAGGTAAGGTACCAGCTCCGCTTCTTCCGAGCCCCAAAGGGCTTGATGAGGGGGCTGGGCTTCCAGTCGTCCATACCGGATTGGCGGGTCACCAATGTCCTGGCCAGCCCATGACTTCAGGAATCTGAAGGGACCAGAGGGCCACATGGGGTAAGATGCTCCTCCCAAAGTCTGATGCCTTCTGGGGAGATGAGGGAGGACCTCCCAGCAACTCTTCCCTGCAAGCACCCATACTGTGTGACATGGGGAAAGTGGCTCAACTTCTCTGGGCTGGCAGGAAACCCTTCAGTGGGGTTGGATCACCTGGAAATTCCCTGAGACTGGAGTAACTCTCTGAATCAAGGCTGTCCAAGGGTGGAGGCCAAATAATCGGCTCAAAGTTCGTTAGCCCCTACAAGGACCAAGTTCCAGGCCTTCCCAAGCCTGTGGTGAGCAAAGAGCGACCTCTCCTGCCCCAGTCTTCAACCCTCGTCCCATCCTATCTGCCCCAGCTTCTCTCCTCCTCCCAGGGCCCGGAGCCGCCCGAGGGCTCAGGAGACCTGCACCGGCAGCGCTACCCGTTCCGGACACCCACGCGGAGGCACTCACGGCTTAGGGGCCCCGGGCCCCGCTCGGGCCCCGCTAGGGCCCTCACTGCTCGGCCCGGCTCGCCGCGGCCTCCGCCTCCTCCATGCCGCTTGCGGCCCCGCCCCGGCCTGGCCCGCCCCCCCGCTTCCGCCGCCGCCGCCGCCGCCGCTGCCGCGGGGTGAGAGGGCGACGGGCGGTGCTTAGGGCGGCGGCGGCGGCGGCGGCGGTGGCGGCAGCGGCGTCGGGGTGTAAGCAGCCAGCGAGTAAGGCGAATGCTCAGACCGTGCTAGGCAGCTTCGCAGCCCGGCTGGCTGGTGGGGCTGCCTGCACGAGAGCAGCCCGCTCCCCAGCACCGCCGATGGCAAGCCCGACTCCAGTCAGAGGCCTAGCACCTTGGACCAGATCACAGGGCACGCCAGGGTCAGAGGGGCTGCAACCCTTGGACACAGGGCACACACCACCCGCCCCATACCCGTCCTGGGCAAGGCCGTTACCTAGTCCTGGGGCATGCACAGCTATTGGAGGCCAAGGGAGATTAAAATCCAGGTTCTGTCACTGTTCTAAGCACCTTACTGATGATGTTTAATTCCACAACAACCCCATGAGGTAGGCGCTATTATCATTATTATTGTTTTTTTTTTAATTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCACCATCTCGGCTCGCTGCAACCTCCGCCTTCTGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGACTACGGTCGTGCGCCACCACACCCAGCTAATTTTTATATTTTTAGTAGAGACGGGGTTTCACCATGTTGGCCAGGCTGGTCTTGAACTTCTGACCTCAAGTGATCCGCCCGCCTTGGCCTCCCAAAGTGCTGGGATTATGGGCAGTGAGCCACCGTGCTGGCTATAGGCGCTATTACTATCCCTGTCGCAGATAAAGAAATAAGACCTAATATCACAAAGCTAGGAGAGGTGGAATTGAAACTCAGCCTAGCTCCAGATTCTGCTCTTAACCACTGCACTCTGCTGGCAACAATACATAAGAATTGCCAGGTTTAAATAACATCATACATAGAAAGCAGTTAGCTTAACACAATGGTTCTCAAACTTTAGCTTGCGTCAGAATCACCTGGATGACTTCTTAAAACAGAGGTGCTGGGCCCCATCCCTAGAGTTTTAGATTCAGTGGTCTGGGGCAGGGTGGGATTTTGCATTCCTGAGAAGTTTCTAGGTGATGTTGATGCTTGTTTGAAGTGGATAGCCATAGAACAGTTTTAGGCAGGGGAGCAATATAATCCAATTTCTGTTTTAAGAGAACCTTTACTTTTTTTGTGGAGAATGGGTTGGAAGCAGACAGAGGAAGCCAGAAGACCAGTTAGATTTTTTTGAGCTTTCTGTATTCCATCTGCTTCCTGAATGGTGGGGTAATATCCCCCAAAATGAAATGTTAACAGTACTTGTCTTAGGAGTTAAAGAAATACATGATTTTTCCTAGTAAGTATGTATAAGAATGGAAGAAAACCCAACACAT
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GCTAGGGAGTAGGGGTCAGGGTCAGGACAGAATAACTGACCTTGACAGTGCAGATGAGCACTCGGCCGGGCGCTACCATGTTGAGGAATAGCACCATGGCCTCATCCTCATGAGGTGAGTACGTGTCAAACACACGTTTTGCCATCACGTGGCCCTGGCAGGGGATATACTTCTGGTGAGTTGGTGTCATCAGCAAGAGCCCAGCTCCAGCCCTCTGGGTCACCCACCCCTAGAAACTCACCGTGGCCTGGTTGAGGACAATGACATGGATGCCCCGGCCCTGCTCCCGGGCCTCATCCTCCAGCACCTACACAGTGGCAGAGACAAAGTCCAGCTTTTCACTCTGGCATTCAAGGTGTCTCTGTCTTAGGGGTACTTAAAACACCAGCTGCTTGAAACATCACCTCCTGCCTATGTTTCTGTTCACACAGTTCTTTTCCAACTCAGCTCGAAGGCCACCTCTTCCAGAAAGCCTCTATAGCACTCCCATCAGAAGAGATCACGTCTTTCTACAACCCTCCCCTCCATGACTTTCATGGCTCTTAGAGCCTCTGCTGTCTCTGCTTCATCCTGGAAGTATCACAATCCTCCACCACACTGAACCCCTCAAGGTAGGGCCAGGTCTGATTACTTTCAGGTCCCCAGTGCCCAGCACAAGGCTGAGGCCAAAGAAAGGACCAGGGGATGGTTATAAAATAAATCAATGAATTGACTGCCTACTATTATGAATGATTACTTTTGAGATCCCACTACATACAAGACACTTCACAAACTTTTCATTGAATCCTGACAAGTAGAAATCATTAGTCCCAGTCTATAGATAAGGAATCGAGGACTCCAAAGTCACACAGCTAGAAACTGGCAGAGTTGCAGTTCCCACTTAGGCAGTAGACCCTGCTGCCAGTGGACCATGCCCTGAGCAGAATAGAGTGACTGTACACCAGACCCTGGCCCACTGACCGTGGTGCCATCCACTGCCACATATACTTTGCTGCGACTTGAATACACCTCTACGTCCAGGACCCGCCGGGGACCACTGCCTCTGCGCCGTGGGGGCTCCAGGCGGCCTAGGGCCTCATCTGTGGGGTACAACAGGTCATGGAGATAGTCTCCTCAGCAGAGTCTCACCGCTTAGGGTCTGCCTGCCACTCCAGCTGTGAGATCCAAGGCCCCCTACCCCATCCTTAGCCTAGCCCTACCATAGTCTTGCTCTGGCTCTGGGTCTTCATTGGCTTCACTGATGGCTCGCCGAGTGTCCAGGATCAACTTGATATTGACAATGACAGTCACCAGCAGGAAAAGCACGGCCCCTGTCTGAGGGGAGGGGTAGGGATGATTAAGAGGAGCACCTCCTTCAGATCCTAGAGGGTCTTTCTGAAAGGAGGGCCCTGGCTGCAGTGAAGACATCCAGAGAAACTGGGTCCTGTCCCTTCCTCTGTCTGCCTAGCTCTACTCCCCTGACCAGGGCCTAGTTTCACAGCCACTTTCCCCAGGGAACCTCCCCTGACACTTCCCCCTCCATTAGGGCCCTCCCTACCCAGTGCTCCTGTATTCTTCTATTTGAGACCTTGATTTCCTTGGTCCCCTCCATTGTTGGTTTCTAGAGATGGAGCCAGGCCCAGGGACCCAAGCGGGGGATCAGACCTGGGTCCTGGCCCTAACTGCCTCACAGGGGTGTGCCTCTCTGCAAAGCCAGCCTGATCAGACTTCAGGCTTCCGTCAGAAGCTTAGAAGTTGTACTTGGGTTCCGATTCCAGAACTTTGGGTTCAAATCATTACCTATAGGGACATGACACATAGAGGTCTCCCCTCTAGGAACCTGCTGCCCCTTTCCCACTGGGGCTGGCCAACAGGGGTCCCAGTGCCTGATTTAGGTGGGGAGGAAGCTGGGAGGGAGCGCTCGGTGGGGAGGGTTTGGGACATCTCTATACCTGACAGAATCTCCGCAGGGCCCGCTGGTTTGTCAGTTTATACTTCCAGGTAAGGTACCAGCTCCGCTTCTTCCGAGCCCCAAAGGGCTTGATGAGGGGGCTGGGCTTCCAGTCGTCTATACCGGATTGGCGGGTCACCAATGTCCTGGCCAGCCCATGACTTCAGGAATCTGAAGGGACCAGAGGGCCACATGGGGTAAGATGCTCCTCCCAAAGTCTGATGCCTTCTGGGGAGATGAGGGAGGACCTCCCAGCAACTCTTCCCTGCAAGCACCCATACTGTGTGACATGGGGAAAGTGGCTCAACTTCTCTGGGCTGGCAGGAAACCCTTCAGTGGGGTTGGATCACCTGGAAATTCCCTGAGACTGGAGTAACTCTCTGAATCAAGGCTGTCCAAGGGTGGAGGCCAAATAATCGGCTCAAAGTTCGTTAGCCCCTACAAGGACCAAGTTCCAGGCCTTCCCAAGCCTGTGGTGAGCAAAGAGCGACCTCTCCTGCCCCAGTCTTCAACCCTCGTCCCATCCTATCTGCCCCAGCTTCTCTCCTCCTCCCAGGGCCCGGAGCCGCCCGAGGGCTCAGGAGACCTGCACCGGCAGCGCTACCCGTTCCGGACACCCACGCGGAGGCACTCACGGCTTAGGGGCCCCGGGCCCCGCTCGGGCCCCGCTAGGGCCCTCACTGCTCGGCCCGGCTCGCCGCGGCCTCCGCCTCCTCCATGCCGCTTGCGGCCCCGCCCCGGCCTGGCCCGCCCCCCCGCTTCCGCCGCCGCCGCCGCCGCCGCTGCCGCGGGGTGAGAGGGCGACGGGCGGTGCTTAGGGCGGCGGCGGCGGCGGCGGCGGTGGCGGCAGCGGCGTCGGGGTGTAAGCAGCCAGCGAGTAAGGCGAATGCTCAGACCGTGCTAGGCAGCTTCGCAGCCCGGCTGGCTGGTGGGGCTGCCTGCACGAGAGCAGCCCGCTCCCCAGCACCGCCGATGGCAAGCCCGACTCCAGTCAGAGGCCTAGCACCTTGGACCAGATCACAGGGCACGCCAGGGTCAGAGGGGCTGCAACCCTTGGACACAGGGCACACACCACCCGCCCCATACCCGTCCTGGGCAAGGCCGTTACCTAGTCCTGGGGCATGCACAGCTATTGGAGGCCAAGGGAGATTAAAATCCAGGTTCTGTCACTGTTCTAAGCACCTTACTGATGATGTTTAATTCCACAACAACCCCATGAGGTAGGCGCTATTATCATTATTATTGTTTTTTTTTTAATTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCACCATCTCGGCTCGCTGCAACCTCCGCCTTCTGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGACTACGGTCGTGCGCCACCACACCCAGCTAATTTTTATATTTTTAGTAGAGACGGGGTTTCACCATGTTGGCCAGGCTGGTCTTGAACTTCTGACCTCAAGTGATCCGCCCGCCTTGGCCTCCCAAAGTGCTGGGATTATGGGCAGTGAGCCACCGTGCTGGCTATAGGCGCTATTACTATCCCTGTCGCAGATAAAGAAATAAGACCTAATATCACAAAGCTAGGAGAGGTGGAATTGAAACTCAGCCTAGCTCCAGATTCTGCTCTTAACCACTGCACTCTGCTGGCAACAATACATAAGAATTGCCAGGTTTAAATAACATCATACATAGAAAGCAGTTAGCTTAACACAATGGTTCTCAAACTTTAGCTTGCGTCAGAATCACCTGGATGACTTCTTAAAACAGAGGTGCTGGGCCCCATCCCTAGAGTTTTAGATTCAGTGGTCTGGGGCAGGGTGGGATTTTGCATTCCTGAGAAGTTTCTAGGTGATGTTGATGCTTGTTTGAAGTGGATAGCCATAGAACAGTTTTAGGCAGGGGAGCAATATAATCCAATTTCTGTTTTAAGAGAACCTTTACTTTTTTTGTGGAGAATGGGTTGGAAGCAGACAGAGGAAGCCAGAAGACCAGTTAGATTTTTTTGAGCTTTCTGTATTCCATCTGCTTCCTGAATGGTGGGGTAATATCCCCCAAAATGAAATGTTAACAGTACTTGTCTTAGGAGTTAAAGAAATACATGATTTTTCCTAGTAAGTATGTATAAGAATGGAAGAAAACCCAACACAT
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Task1_train_889
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This variant affects gene POMGNT1 (protein O-linked mannose N-acetylglucosaminyltransferase 1 (beta 1,2-)) located on Chromosome 1. Evaluate its biological effect and specify any disease association.
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Pathogenic; Autosomal recessive limb-girdle muscular dystrophy type 2O
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TAGGGAGTAGGGGTCAGGGTCAGGACAGAATAACTGACCTTGACAGTGCAGATGAGCACTCGGCCGGGCGCTACCATGTTGAGGAATAGCACCATGGCCTCATCCTCATGAGGTGAGTACGTGTCAAACACACGTTTTGCCATCACGTGGCCCTGGCAGGGGATATACTTCTGGTGAGTTGGTGTCATCAGCAAGAGCCCAGCTCCAGCCCTCTGGGTCACCCACCCCTAGAAACTCACCGTGGCCTGGTTGAGGACAATGACATGGATGCCCCGGCCCTGCTCCCGGGCCTCATCCTCCAGCACCTACACAGTGGCAGAGACAAAGTCCAGCTTTTCACTCTGGCATTCAAGGTGTCTCTGTCTTAGGGGTACTTAAAACACCAGCTGCTTGAAACATCACCTCCTGCCTATGTTTCTGTTCACACAGTTCTTTTCCAACTCAGCTCGAAGGCCACCTCTTCCAGAAAGCCTCTATAGCACTCCCATCAGAAGAGATCACGTCTTTCTACAACCCTCCCCTCCATGACTTTCATGGCTCTTAGAGCCTCTGCTGTCTCTGCTTCATCCTGGAAGTATCACAATCCTCCACCACACTGAACCCCTCAAGGTAGGGCCAGGTCTGATTACTTTCAGGTCCCCAGTGCCCAGCACAAGGCTGAGGCCAAAGAAAGGACCAGGGGATGGTTATAAAATAAATCAATGAATTGACTGCCTACTATTATGAATGATTACTTTTGAGATCCCACTACATACAAGACACTTCACAAACTTTTCATTGAATCCTGACAAGTAGAAATCATTAGTCCCAGTCTATAGATAAGGAATCGAGGACTCCAAAGTCACACAGCTAGAAACTGGCAGAGTTGCAGTTCCCACTTAGGCAGTAGACCCTGCTGCCAGTGGACCATGCCCTGAGCAGAATAGAGTGACTGTACACCAGACCCTGGCCCACTGACCGTGGTGCCATCCACTGCCACATATACTTTGCTGCGACTTGAATACACCTCTACGTCCAGGACCCGCCGGGGACCACTGCCTCTGCGCCGTGGGGGCTCCAGGCGGCCTAGGGCCTCATCTGTGGGGTACAACAGGTCATGGAGATAGTCTCCTCAGCAGAGTCTCACCGCTTAGGGTCTGCCTGCCACTCCAGCTGTGAGATCCAAGGCCCCCTACCCCATCCTTAGCCTAGCCCTACCATAGTCTTGCTCTGGCTCTGGGTCTTCATTGGCTTCACTGATGGCTCGCCGAGTGTCCAGGATCAACTTGATATTGACAATGACAGTCACCAGCAGGAAAAGCACGGCCCCTGTCTGAGGGGAGGGGTAGGGATGATTAAGAGGAGCACCTCCTTCAGATCCTAGAGGGTCTTTCTGAAAGGAGGGCCCTGGCTGCAGTGAAGACATCCAGAGAAACTGGGTCCTGTCCCTTCCTCTGTCTGCCTAGCTCTACTCCCCTGACCAGGGCCTAGTTTCACAGCCACTTTCCCCAGGGAACCTCCCCTGACACTTCCCCCTCCATTAGGGCCCTCCCTACCCAGTGCTCCTGTATTCTTCTATTTGAGACCTTGATTTCCTTGGTCCCCTCCATTGTTGGTTTCTAGAGATGGAGCCAGGCCCAGGGACCCAAGCGGGGGATCAGACCTGGGTCCTGGCCCTAACTGCCTCACAGGGGTGTGCCTCTCTGCAAAGCCAGCCTGATCAGACTTCAGGCTTCCGTCAGAAGCTTAGAAGTTGTACTTGGGTTCCGATTCCAGAACTTTGGGTTCAAATCATTACCTATAGGGACATGACACATAGAGGTCTCCCCTCTAGGAACCTGCTGCCCCTTTCCCACTGGGGCTGGCCAACAGGGGTCCCAGTGCCTGATTTAGGTGGGGAGGAAGCTGGGAGGGAGCGCTCGGTGGGGAGGGTTTGGGACATCTCTATACCTGACAGAATCTCCGCAGGGCCCGCTGGTTTGTCAGTTTATACTTCCAGGTAAGGTACCAGCTCCGCTTCTTCCGAGCCCCAAAGGGCTTGATGAGGGGGCTGGGCTTCCAGTCGTCCATACCGGATTGGCGGGTCACCAATGTCCTGGCCAGCCCATGACTTCAGGAATCTGAAGGGACCAGAGGGCCACATGGGGTAAGATGCTCCTCCCAAAGTCTGATGCCTTCTGGGGAGATGAGGGAGGACCTCCCAGCAACTCTTCCCTGCAAGCACCCATACTGTGTGACATGGGGAAAGTGGCTCAACTTCTCTGGGCTGGCAGGAAACCCTTCAGTGGGGTTGGATCACCTGGAAATTCCCTGAGACTGGAGTAACTCTCTGAATCAAGGCTGTCCAAGGGTGGAGGCCAAATAATCGGCTCAAAGTTCGTTAGCCCCTACAAGGACCAAGTTCCAGGCCTTCCCAAGCCTGTGGTGAGCAAAGAGCGACCTCTCCTGCCCCAGTCTTCAACCCTCGTCCCATCCTATCTGCCCCAGCTTCTCTCCTCCTCCCAGGGCCCGGAGCCGCCCGAGGGCTCAGGAGACCTGCACCGGCAGCGCTACCCGTTCCGGACACCCACGCGGAGGCACTCACGGCTTAGGGGCCCCGGGCCCCGCTCGGGCCCCGCTAGGGCCCTCACTGCTCGGCCCGGCTCGCCGCGGCCTCCGCCTCCTCCATGCCGCTTGCGGCCCCGCCCCGGCCTGGCCCGCCCCCCCGCTTCCGCCGCCGCCGCCGCCGCCGCTGCCGCGGGGTGAGAGGGCGACGGGCGGTGCTTAGGGCGGCGGCGGCGGCGGCGGCGGTGGCGGCAGCGGCGTCGGGGTGTAAGCAGCCAGCGAGTAAGGCGAATGCTCAGACCGTGCTAGGCAGCTTCGCAGCCCGGCTGGCTGGTGGGGCTGCCTGCACGAGAGCAGCCCGCTCCCCAGCACCGCCGATGGCAAGCCCGACTCCAGTCAGAGGCCTAGCACCTTGGACCAGATCACAGGGCACGCCAGGGTCAGAGGGGCTGCAACCCTTGGACACAGGGCACACACCACCCGCCCCATACCCGTCCTGGGCAAGGCCGTTACCTAGTCCTGGGGCATGCACAGCTATTGGAGGCCAAGGGAGATTAAAATCCAGGTTCTGTCACTGTTCTAAGCACCTTACTGATGATGTTTAATTCCACAACAACCCCATGAGGTAGGCGCTATTATCATTATTATTGTTTTTTTTTTAATTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCACCATCTCGGCTCGCTGCAACCTCCGCCTTCTGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGACTACGGTCGTGCGCCACCACACCCAGCTAATTTTTATATTTTTAGTAGAGACGGGGTTTCACCATGTTGGCCAGGCTGGTCTTGAACTTCTGACCTCAAGTGATCCGCCCGCCTTGGCCTCCCAAAGTGCTGGGATTATGGGCAGTGAGCCACCGTGCTGGCTATAGGCGCTATTACTATCCCTGTCGCAGATAAAGAAATAAGACCTAATATCACAAAGCTAGGAGAGGTGGAATTGAAACTCAGCCTAGCTCCAGATTCTGCTCTTAACCACTGCACTCTGCTGGCAACAATACATAAGAATTGCCAGGTTTAAATAACATCATACATAGAAAGCAGTTAGCTTAACACAATGGTTCTCAAACTTTAGCTTGCGTCAGAATCACCTGGATGACTTCTTAAAACAGAGGTGCTGGGCCCCATCCCTAGAGTTTTAGATTCAGTGGTCTGGGGCAGGGTGGGATTTTGCATTCCTGAGAAGTTTCTAGGTGATGTTGATGCTTGTTTGAAGTGGATAGCCATAGAACAGTTTTAGGCAGGGGAGCAATATAATCCAATTTCTGTTTTAAGAGAACCTTTACTTTTTTTGTGGAGAATGGGTTGGAAGCAGACAGAGGAAGCCAGAAGACCAGTTAGATTTTTTTGAGCTTTCTGTATTCCATCTGCTTCCTGAATGGTGGGGTAATATCCCCCAAAATGAAATGTTAACAGTACTTGTCTTAGGAGTTAAAGAAATACATGATTTTTCCTAGTAAGTATGTATAAGAATGGAAGAAAACCCAACACATTT
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TAGGGAGTAGGGGTCAGGGTCAGGACAGAATAACTGACCTTGACAGTGCAGATGAGCACTCGGCCGGGCGCTACCATGTTGAGGAATAGCACCATGGCCTCATCCTCATGAGGTGAGTACGTGTCAAACACACGTTTTGCCATCACGTGGCCCTGGCAGGGGATATACTTCTGGTGAGTTGGTGTCATCAGCAAGAGCCCAGCTCCAGCCCTCTGGGTCACCCACCCCTAGAAACTCACCGTGGCCTGGTTGAGGACAATGACATGGATGCCCCGGCCCTGCTCCCGGGCCTCATCCTCCAGCACCTACACAGTGGCAGAGACAAAGTCCAGCTTTTCACTCTGGCATTCAAGGTGTCTCTGTCTTAGGGGTACTTAAAACACCAGCTGCTTGAAACATCACCTCCTGCCTATGTTTCTGTTCACACAGTTCTTTTCCAACTCAGCTCGAAGGCCACCTCTTCCAGAAAGCCTCTATAGCACTCCCATCAGAAGAGATCACGTCTTTCTACAACCCTCCCCTCCATGACTTTCATGGCTCTTAGAGCCTCTGCTGTCTCTGCTTCATCCTGGAAGTATCACAATCCTCCACCACACTGAACCCCTCAAGGTAGGGCCAGGTCTGATTACTTTCAGGTCCCCAGTGCCCAGCACAAGGCTGAGGCCAAAGAAAGGACCAGGGGATGGTTATAAAATAAATCAATGAATTGACTGCCTACTATTATGAATGATTACTTTTGAGATCCCACTACATACAAGACACTTCACAAACTTTTCATTGAATCCTGACAAGTAGAAATCATTAGTCCCAGTCTATAGATAAGGAATCGAGGACTCCAAAGTCACACAGCTAGAAACTGGCAGAGTTGCAGTTCCCACTTAGGCAGTAGACCCTGCTGCCAGTGGACCATGCCCTGAGCAGAATAGAGTGACTGTACACCAGACCCTGGCCCACTGACCGTGGTGCCATCCACTGCCACATATACTTTGCTGCGACTTGAATACACCTCTACGTCCAGGACCCGCCGGGGACCACTGCCTCTGCGCCGTGGGGGCTCCAGGCGGCCTAGGGCCTCATCTGTGGGGTACAACAGGTCATGGAGATAGTCTCCTCAGCAGAGTCTCACCGCTTAGGGTCTGCCTGCCACTCCAGCTGTGAGATCCAAGGCCCCCTACCCCATCCTTAGCCTAGCCCTACCATAGTCTTGCTCTGGCTCTGGGTCTTCATTGGCTTCACTGATGGCTCGCCGAGTGTCCAGGATCAACTTGATATTGACAATGACAGTCACCAGCAGGAAAAGCACGGCCCCTGTCTGAGGGGAGGGGTAGGGATGATTAAGAGGAGCACCTCCTTCAGATCCTAGAGGGTCTTTCTGAAAGGAGGGCCCTGGCTGCAGTGAAGACATCCAGAGAAACTGGGTCCTGTCCCTTCCTCTGTCTGCCTAGCTCTACTCCCCTGACCAGGGCCTAGTTTCACAGCCACTTTCCCCAGGGAACCTCCCCTGACACTTCCCCCTCCATTAGGGCCCTCCCTACCCAGTGCTCCTGTATTCTTCTATTTGAGACCTTGATTTCCTTGGTCCCCTCCATTGTTGGTTTCTAGAGATGGAGCCAGGCCCAGGGACCCAAGCGGGGGATCAGACCTGGGTCCTGGCCCTAACTGCCTCACAGGGGTGTGCCTCTCTGCAAAGCCAGCCTGATCAGACTTCAGGCTTCCGTCAGAAGCTTAGAAGTTGTACTTGGGTTCCGATTCCAGAACTTTGGGTTCAAATCATTACCTATAGGGACATGACACATAGAGGTCTCCCCTCTAGGAACCTGCTGCCCCTTTCCCACTGGGGCTGGCCAACAGGGGTCCCAGTGCCTGATTTAGGTGGGGAGGAAGCTGGGAGGGAGCGCTCGGTGGGGAGGGTTTGGGACATCTCTATACCTGACAGAATCTCCGCAGGGCCCGCTGGTTTGTCAGTTTATACTTCCAGGTAAGGTACCAGCTCCGCTTCTTCCGAGCCCCAAAGGGCTTGATGAGGGGGCTGGGCTTCCAGTCGTCCACACCGGATTGGCGGGTCACCAATGTCCTGGCCAGCCCATGACTTCAGGAATCTGAAGGGACCAGAGGGCCACATGGGGTAAGATGCTCCTCCCAAAGTCTGATGCCTTCTGGGGAGATGAGGGAGGACCTCCCAGCAACTCTTCCCTGCAAGCACCCATACTGTGTGACATGGGGAAAGTGGCTCAACTTCTCTGGGCTGGCAGGAAACCCTTCAGTGGGGTTGGATCACCTGGAAATTCCCTGAGACTGGAGTAACTCTCTGAATCAAGGCTGTCCAAGGGTGGAGGCCAAATAATCGGCTCAAAGTTCGTTAGCCCCTACAAGGACCAAGTTCCAGGCCTTCCCAAGCCTGTGGTGAGCAAAGAGCGACCTCTCCTGCCCCAGTCTTCAACCCTCGTCCCATCCTATCTGCCCCAGCTTCTCTCCTCCTCCCAGGGCCCGGAGCCGCCCGAGGGCTCAGGAGACCTGCACCGGCAGCGCTACCCGTTCCGGACACCCACGCGGAGGCACTCACGGCTTAGGGGCCCCGGGCCCCGCTCGGGCCCCGCTAGGGCCCTCACTGCTCGGCCCGGCTCGCCGCGGCCTCCGCCTCCTCCATGCCGCTTGCGGCCCCGCCCCGGCCTGGCCCGCCCCCCCGCTTCCGCCGCCGCCGCCGCCGCCGCTGCCGCGGGGTGAGAGGGCGACGGGCGGTGCTTAGGGCGGCGGCGGCGGCGGCGGCGGTGGCGGCAGCGGCGTCGGGGTGTAAGCAGCCAGCGAGTAAGGCGAATGCTCAGACCGTGCTAGGCAGCTTCGCAGCCCGGCTGGCTGGTGGGGCTGCCTGCACGAGAGCAGCCCGCTCCCCAGCACCGCCGATGGCAAGCCCGACTCCAGTCAGAGGCCTAGCACCTTGGACCAGATCACAGGGCACGCCAGGGTCAGAGGGGCTGCAACCCTTGGACACAGGGCACACACCACCCGCCCCATACCCGTCCTGGGCAAGGCCGTTACCTAGTCCTGGGGCATGCACAGCTATTGGAGGCCAAGGGAGATTAAAATCCAGGTTCTGTCACTGTTCTAAGCACCTTACTGATGATGTTTAATTCCACAACAACCCCATGAGGTAGGCGCTATTATCATTATTATTGTTTTTTTTTTAATTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCACCATCTCGGCTCGCTGCAACCTCCGCCTTCTGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGACTACGGTCGTGCGCCACCACACCCAGCTAATTTTTATATTTTTAGTAGAGACGGGGTTTCACCATGTTGGCCAGGCTGGTCTTGAACTTCTGACCTCAAGTGATCCGCCCGCCTTGGCCTCCCAAAGTGCTGGGATTATGGGCAGTGAGCCACCGTGCTGGCTATAGGCGCTATTACTATCCCTGTCGCAGATAAAGAAATAAGACCTAATATCACAAAGCTAGGAGAGGTGGAATTGAAACTCAGCCTAGCTCCAGATTCTGCTCTTAACCACTGCACTCTGCTGGCAACAATACATAAGAATTGCCAGGTTTAAATAACATCATACATAGAAAGCAGTTAGCTTAACACAATGGTTCTCAAACTTTAGCTTGCGTCAGAATCACCTGGATGACTTCTTAAAACAGAGGTGCTGGGCCCCATCCCTAGAGTTTTAGATTCAGTGGTCTGGGGCAGGGTGGGATTTTGCATTCCTGAGAAGTTTCTAGGTGATGTTGATGCTTGTTTGAAGTGGATAGCCATAGAACAGTTTTAGGCAGGGGAGCAATATAATCCAATTTCTGTTTTAAGAGAACCTTTACTTTTTTTGTGGAGAATGGGTTGGAAGCAGACAGAGGAAGCCAGAAGACCAGTTAGATTTTTTTGAGCTTTCTGTATTCCATCTGCTTCCTGAATGGTGGGGTAATATCCCCCAAAATGAAATGTTAACAGTACTTGTCTTAGGAGTTAAAGAAATACATGATTTTTCCTAGTAAGTATGTATAAGAATGGAAGAAAACCCAACACATTT
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Task1_train_890
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Here is a variant affecting POMGNT1 (protein O-linked mannose N-acetylglucosaminyltransferase 1 (beta 1,2-)) on Chromosome 1. Please identify whether it is a benign mutation or associated with a disorder.
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Pathogenic; Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B3
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TAGGGAGTAGGGGTCAGGGTCAGGACAGAATAACTGACCTTGACAGTGCAGATGAGCACTCGGCCGGGCGCTACCATGTTGAGGAATAGCACCATGGCCTCATCCTCATGAGGTGAGTACGTGTCAAACACACGTTTTGCCATCACGTGGCCCTGGCAGGGGATATACTTCTGGTGAGTTGGTGTCATCAGCAAGAGCCCAGCTCCAGCCCTCTGGGTCACCCACCCCTAGAAACTCACCGTGGCCTGGTTGAGGACAATGACATGGATGCCCCGGCCCTGCTCCCGGGCCTCATCCTCCAGCACCTACACAGTGGCAGAGACAAAGTCCAGCTTTTCACTCTGGCATTCAAGGTGTCTCTGTCTTAGGGGTACTTAAAACACCAGCTGCTTGAAACATCACCTCCTGCCTATGTTTCTGTTCACACAGTTCTTTTCCAACTCAGCTCGAAGGCCACCTCTTCCAGAAAGCCTCTATAGCACTCCCATCAGAAGAGATCACGTCTTTCTACAACCCTCCCCTCCATGACTTTCATGGCTCTTAGAGCCTCTGCTGTCTCTGCTTCATCCTGGAAGTATCACAATCCTCCACCACACTGAACCCCTCAAGGTAGGGCCAGGTCTGATTACTTTCAGGTCCCCAGTGCCCAGCACAAGGCTGAGGCCAAAGAAAGGACCAGGGGATGGTTATAAAATAAATCAATGAATTGACTGCCTACTATTATGAATGATTACTTTTGAGATCCCACTACATACAAGACACTTCACAAACTTTTCATTGAATCCTGACAAGTAGAAATCATTAGTCCCAGTCTATAGATAAGGAATCGAGGACTCCAAAGTCACACAGCTAGAAACTGGCAGAGTTGCAGTTCCCACTTAGGCAGTAGACCCTGCTGCCAGTGGACCATGCCCTGAGCAGAATAGAGTGACTGTACACCAGACCCTGGCCCACTGACCGTGGTGCCATCCACTGCCACATATACTTTGCTGCGACTTGAATACACCTCTACGTCCAGGACCCGCCGGGGACCACTGCCTCTGCGCCGTGGGGGCTCCAGGCGGCCTAGGGCCTCATCTGTGGGGTACAACAGGTCATGGAGATAGTCTCCTCAGCAGAGTCTCACCGCTTAGGGTCTGCCTGCCACTCCAGCTGTGAGATCCAAGGCCCCCTACCCCATCCTTAGCCTAGCCCTACCATAGTCTTGCTCTGGCTCTGGGTCTTCATTGGCTTCACTGATGGCTCGCCGAGTGTCCAGGATCAACTTGATATTGACAATGACAGTCACCAGCAGGAAAAGCACGGCCCCTGTCTGAGGGGAGGGGTAGGGATGATTAAGAGGAGCACCTCCTTCAGATCCTAGAGGGTCTTTCTGAAAGGAGGGCCCTGGCTGCAGTGAAGACATCCAGAGAAACTGGGTCCTGTCCCTTCCTCTGTCTGCCTAGCTCTACTCCCCTGACCAGGGCCTAGTTTCACAGCCACTTTCCCCAGGGAACCTCCCCTGACACTTCCCCCTCCATTAGGGCCCTCCCTACCCAGTGCTCCTGTATTCTTCTATTTGAGACCTTGATTTCCTTGGTCCCCTCCATTGTTGGTTTCTAGAGATGGAGCCAGGCCCAGGGACCCAAGCGGGGGATCAGACCTGGGTCCTGGCCCTAACTGCCTCACAGGGGTGTGCCTCTCTGCAAAGCCAGCCTGATCAGACTTCAGGCTTCCGTCAGAAGCTTAGAAGTTGTACTTGGGTTCCGATTCCAGAACTTTGGGTTCAAATCATTACCTATAGGGACATGACACATAGAGGTCTCCCCTCTAGGAACCTGCTGCCCCTTTCCCACTGGGGCTGGCCAACAGGGGTCCCAGTGCCTGATTTAGGTGGGGAGGAAGCTGGGAGGGAGCGCTCGGTGGGGAGGGTTTGGGACATCTCTATACCTGACAGAATCTCCGCAGGGCCCGCTGGTTTGTCAGTTTATACTTCCAGGTAAGGTACCAGCTCCGCTTCTTCCGAGCCCCAAAGGGCTTGATGAGGGGGCTGGGCTTCCAGTCGTCCATACCGGATTGGCGGGTCACCAATGTCCTGGCCAGCCCATGACTTCAGGAATCTGAAGGGACCAGAGGGCCACATGGGGTAAGATGCTCCTCCCAAAGTCTGATGCCTTCTGGGGAGATGAGGGAGGACCTCCCAGCAACTCTTCCCTGCAAGCACCCATACTGTGTGACATGGGGAAAGTGGCTCAACTTCTCTGGGCTGGCAGGAAACCCTTCAGTGGGGTTGGATCACCTGGAAATTCCCTGAGACTGGAGTAACTCTCTGAATCAAGGCTGTCCAAGGGTGGAGGCCAAATAATCGGCTCAAAGTTCGTTAGCCCCTACAAGGACCAAGTTCCAGGCCTTCCCAAGCCTGTGGTGAGCAAAGAGCGACCTCTCCTGCCCCAGTCTTCAACCCTCGTCCCATCCTATCTGCCCCAGCTTCTCTCCTCCTCCCAGGGCCCGGAGCCGCCCGAGGGCTCAGGAGACCTGCACCGGCAGCGCTACCCGTTCCGGACACCCACGCGGAGGCACTCACGGCTTAGGGGCCCCGGGCCCCGCTCGGGCCCCGCTAGGGCCCTCACTGCTCGGCCCGGCTCGCCGCGGCCTCCGCCTCCTCCATGCCGCTTGCGGCCCCGCCCCGGCCTGGCCCGCCCCCCCGCTTCCGCCGCCGCCGCCGCCGCCGCTGCCGCGGGGTGAGAGGGCGACGGGCGGTGCTTAGGGCGGCGGCGGCGGCGGCGGCGGTGGCGGCAGCGGCGTCGGGGTGTAAGCAGCCAGCGAGTAAGGCGAATGCTCAGACCGTGCTAGGCAGCTTCGCAGCCCGGCTGGCTGGTGGGGCTGCCTGCACGAGAGCAGCCCGCTCCCCAGCACCGCCGATGGCAAGCCCGACTCCAGTCAGAGGCCTAGCACCTTGGACCAGATCACAGGGCACGCCAGGGTCAGAGGGGCTGCAACCCTTGGACACAGGGCACACACCACCCGCCCCATACCCGTCCTGGGCAAGGCCGTTACCTAGTCCTGGGGCATGCACAGCTATTGGAGGCCAAGGGAGATTAAAATCCAGGTTCTGTCACTGTTCTAAGCACCTTACTGATGATGTTTAATTCCACAACAACCCCATGAGGTAGGCGCTATTATCATTATTATTGTTTTTTTTTTAATTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCACCATCTCGGCTCGCTGCAACCTCCGCCTTCTGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGACTACGGTCGTGCGCCACCACACCCAGCTAATTTTTATATTTTTAGTAGAGACGGGGTTTCACCATGTTGGCCAGGCTGGTCTTGAACTTCTGACCTCAAGTGATCCGCCCGCCTTGGCCTCCCAAAGTGCTGGGATTATGGGCAGTGAGCCACCGTGCTGGCTATAGGCGCTATTACTATCCCTGTCGCAGATAAAGAAATAAGACCTAATATCACAAAGCTAGGAGAGGTGGAATTGAAACTCAGCCTAGCTCCAGATTCTGCTCTTAACCACTGCACTCTGCTGGCAACAATACATAAGAATTGCCAGGTTTAAATAACATCATACATAGAAAGCAGTTAGCTTAACACAATGGTTCTCAAACTTTAGCTTGCGTCAGAATCACCTGGATGACTTCTTAAAACAGAGGTGCTGGGCCCCATCCCTAGAGTTTTAGATTCAGTGGTCTGGGGCAGGGTGGGATTTTGCATTCCTGAGAAGTTTCTAGGTGATGTTGATGCTTGTTTGAAGTGGATAGCCATAGAACAGTTTTAGGCAGGGGAGCAATATAATCCAATTTCTGTTTTAAGAGAACCTTTACTTTTTTTGTGGAGAATGGGTTGGAAGCAGACAGAGGAAGCCAGAAGACCAGTTAGATTTTTTTGAGCTTTCTGTATTCCATCTGCTTCCTGAATGGTGGGGTAATATCCCCCAAAATGAAATGTTAACAGTACTTGTCTTAGGAGTTAAAGAAATACATGATTTTTCCTAGTAAGTATGTATAAGAATGGAAGAAAACCCAACACATTT
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TAGGGAGTAGGGGTCAGGGTCAGGACAGAATAACTGACCTTGACAGTGCAGATGAGCACTCGGCCGGGCGCTACCATGTTGAGGAATAGCACCATGGCCTCATCCTCATGAGGTGAGTACGTGTCAAACACACGTTTTGCCATCACGTGGCCCTGGCAGGGGATATACTTCTGGTGAGTTGGTGTCATCAGCAAGAGCCCAGCTCCAGCCCTCTGGGTCACCCACCCCTAGAAACTCACCGTGGCCTGGTTGAGGACAATGACATGGATGCCCCGGCCCTGCTCCCGGGCCTCATCCTCCAGCACCTACACAGTGGCAGAGACAAAGTCCAGCTTTTCACTCTGGCATTCAAGGTGTCTCTGTCTTAGGGGTACTTAAAACACCAGCTGCTTGAAACATCACCTCCTGCCTATGTTTCTGTTCACACAGTTCTTTTCCAACTCAGCTCGAAGGCCACCTCTTCCAGAAAGCCTCTATAGCACTCCCATCAGAAGAGATCACGTCTTTCTACAACCCTCCCCTCCATGACTTTCATGGCTCTTAGAGCCTCTGCTGTCTCTGCTTCATCCTGGAAGTATCACAATCCTCCACCACACTGAACCCCTCAAGGTAGGGCCAGGTCTGATTACTTTCAGGTCCCCAGTGCCCAGCACAAGGCTGAGGCCAAAGAAAGGACCAGGGGATGGTTATAAAATAAATCAATGAATTGACTGCCTACTATTATGAATGATTACTTTTGAGATCCCACTACATACAAGACACTTCACAAACTTTTCATTGAATCCTGACAAGTAGAAATCATTAGTCCCAGTCTATAGATAAGGAATCGAGGACTCCAAAGTCACACAGCTAGAAACTGGCAGAGTTGCAGTTCCCACTTAGGCAGTAGACCCTGCTGCCAGTGGACCATGCCCTGAGCAGAATAGAGTGACTGTACACCAGACCCTGGCCCACTGACCGTGGTGCCATCCACTGCCACATATACTTTGCTGCGACTTGAATACACCTCTACGTCCAGGACCCGCCGGGGACCACTGCCTCTGCGCCGTGGGGGCTCCAGGCGGCCTAGGGCCTCATCTGTGGGGTACAACAGGTCATGGAGATAGTCTCCTCAGCAGAGTCTCACCGCTTAGGGTCTGCCTGCCACTCCAGCTGTGAGATCCAAGGCCCCCTACCCCATCCTTAGCCTAGCCCTACCATAGTCTTGCTCTGGCTCTGGGTCTTCATTGGCTTCACTGATGGCTCGCCGAGTGTCCAGGATCAACTTGATATTGACAATGACAGTCACCAGCAGGAAAAGCACGGCCCCTGTCTGAGGGGAGGGGTAGGGATGATTAAGAGGAGCACCTCCTTCAGATCCTAGAGGGTCTTTCTGAAAGGAGGGCCCTGGCTGCAGTGAAGACATCCAGAGAAACTGGGTCCTGTCCCTTCCTCTGTCTGCCTAGCTCTACTCCCCTGACCAGGGCCTAGTTTCACAGCCACTTTCCCCAGGGAACCTCCCCTGACACTTCCCCCTCCATTAGGGCCCTCCCTACCCAGTGCTCCTGTATTCTTCTATTTGAGACCTTGATTTCCTTGGTCCCCTCCATTGTTGGTTTCTAGAGATGGAGCCAGGCCCAGGGACCCAAGCGGGGGATCAGACCTGGGTCCTGGCCCTAACTGCCTCACAGGGGTGTGCCTCTCTGCAAAGCCAGCCTGATCAGACTTCAGGCTTCCGTCAGAAGCTTAGAAGTTGTACTTGGGTTCCGATTCCAGAACTTTGGGTTCAAATCATTACCTATAGGGACATGACACATAGAGGTCTCCCCTCTAGGAACCTGCTGCCCCTTTCCCACTGGGGCTGGCCAACAGGGGTCCCAGTGCCTGATTTAGGTGGGGAGGAAGCTGGGAGGGAGCGCTCGGTGGGGAGGGTTTGGGACATCTCTATACCTGACAGAATCTCCGCAGGGCCCGCTGGTTTGTCAGTTTATACTTCCAGGTAAGGTACCAGCTCCGCTTCTTCCGAGCCCCAAAGGGCTTGATGAGGGGGCTGGGCTTCCAGTCGTCCACACCGGATTGGCGGGTCACCAATGTCCTGGCCAGCCCATGACTTCAGGAATCTGAAGGGACCAGAGGGCCACATGGGGTAAGATGCTCCTCCCAAAGTCTGATGCCTTCTGGGGAGATGAGGGAGGACCTCCCAGCAACTCTTCCCTGCAAGCACCCATACTGTGTGACATGGGGAAAGTGGCTCAACTTCTCTGGGCTGGCAGGAAACCCTTCAGTGGGGTTGGATCACCTGGAAATTCCCTGAGACTGGAGTAACTCTCTGAATCAAGGCTGTCCAAGGGTGGAGGCCAAATAATCGGCTCAAAGTTCGTTAGCCCCTACAAGGACCAAGTTCCAGGCCTTCCCAAGCCTGTGGTGAGCAAAGAGCGACCTCTCCTGCCCCAGTCTTCAACCCTCGTCCCATCCTATCTGCCCCAGCTTCTCTCCTCCTCCCAGGGCCCGGAGCCGCCCGAGGGCTCAGGAGACCTGCACCGGCAGCGCTACCCGTTCCGGACACCCACGCGGAGGCACTCACGGCTTAGGGGCCCCGGGCCCCGCTCGGGCCCCGCTAGGGCCCTCACTGCTCGGCCCGGCTCGCCGCGGCCTCCGCCTCCTCCATGCCGCTTGCGGCCCCGCCCCGGCCTGGCCCGCCCCCCCGCTTCCGCCGCCGCCGCCGCCGCCGCTGCCGCGGGGTGAGAGGGCGACGGGCGGTGCTTAGGGCGGCGGCGGCGGCGGCGGCGGTGGCGGCAGCGGCGTCGGGGTGTAAGCAGCCAGCGAGTAAGGCGAATGCTCAGACCGTGCTAGGCAGCTTCGCAGCCCGGCTGGCTGGTGGGGCTGCCTGCACGAGAGCAGCCCGCTCCCCAGCACCGCCGATGGCAAGCCCGACTCCAGTCAGAGGCCTAGCACCTTGGACCAGATCACAGGGCACGCCAGGGTCAGAGGGGCTGCAACCCTTGGACACAGGGCACACACCACCCGCCCCATACCCGTCCTGGGCAAGGCCGTTACCTAGTCCTGGGGCATGCACAGCTATTGGAGGCCAAGGGAGATTAAAATCCAGGTTCTGTCACTGTTCTAAGCACCTTACTGATGATGTTTAATTCCACAACAACCCCATGAGGTAGGCGCTATTATCATTATTATTGTTTTTTTTTTAATTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCACCATCTCGGCTCGCTGCAACCTCCGCCTTCTGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGACTACGGTCGTGCGCCACCACACCCAGCTAATTTTTATATTTTTAGTAGAGACGGGGTTTCACCATGTTGGCCAGGCTGGTCTTGAACTTCTGACCTCAAGTGATCCGCCCGCCTTGGCCTCCCAAAGTGCTGGGATTATGGGCAGTGAGCCACCGTGCTGGCTATAGGCGCTATTACTATCCCTGTCGCAGATAAAGAAATAAGACCTAATATCACAAAGCTAGGAGAGGTGGAATTGAAACTCAGCCTAGCTCCAGATTCTGCTCTTAACCACTGCACTCTGCTGGCAACAATACATAAGAATTGCCAGGTTTAAATAACATCATACATAGAAAGCAGTTAGCTTAACACAATGGTTCTCAAACTTTAGCTTGCGTCAGAATCACCTGGATGACTTCTTAAAACAGAGGTGCTGGGCCCCATCCCTAGAGTTTTAGATTCAGTGGTCTGGGGCAGGGTGGGATTTTGCATTCCTGAGAAGTTTCTAGGTGATGTTGATGCTTGTTTGAAGTGGATAGCCATAGAACAGTTTTAGGCAGGGGAGCAATATAATCCAATTTCTGTTTTAAGAGAACCTTTACTTTTTTTGTGGAGAATGGGTTGGAAGCAGACAGAGGAAGCCAGAAGACCAGTTAGATTTTTTTGAGCTTTCTGTATTCCATCTGCTTCCTGAATGGTGGGGTAATATCCCCCAAAATGAAATGTTAACAGTACTTGTCTTAGGAGTTAAAGAAATACATGATTTTTCCTAGTAAGTATGTATAAGAATGGAAGAAAACCCAACACATTT
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Task1_train_891
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Consider a variant on Chromosome 1 in gene RAD54L (RAD54 like). Determine its clinical classification and disease relevance.
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Pathogenic; Colon adenocarcinoma
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CCGCGCAACTACCTCCTCCCTTCACCCGGACTGGGACCATCATCCCCACTCCACTCCGCCCAGTCTGGGACTCCACCTGCCTCCTCCCCAATCCCACACTAATCTCTGCTTGGTCTCTTCCTCTTTGGCCTAATCTCTCGTCTCGGCTTATTGGGGACGGCCACTCTCACAGTTTGGTTCCAAACACCAGTTCCTGGATGGATTCCCGCCATCCATGCCCCCTCTTTAATTAGCCGGTCCTCTCAATAATGTAGCAGCCCCCTCTACAGATTAGACCCTGGTCCTACACTCTTAGCCGCTGCCTGCTTTTGACCTTTGGCTCATGGGTACTTGACGTTTTAAACTCCTAGGCCCAGGATGGTAAGTGTGGGCCTAGGGGAGACTGGGAATAGCCCTGGGTCAGGGTCTAGTAGGCCTAGGCTGCAGGATCCTTGCAGGCACTGTTTCTGTTCTCCCTTTACAGAGGAGGAGCTTGGCTCCCAGCCAGCTGGCCAAGAGAAAACCTGAAGGCAGGTCCTGTGATGATGAAGACTGGCAACCTGGCCTAGTGGTGAGCACTCAAGGGGACAGGGAAGGTGGGTAGAGCTGTTTGGACAGAAAAGAAGCCAGGATTTGGTTTCTAGGGTTACATAGCCAATTCCAGATGCCTCTTTTGTATGTTCAATAAACTTTTAGTGAGTACTTACTATGTGCCAGGCATTGAACAAGATTAGTAAAATCTTTATCCTCAGGGTAGTCACTAGAAGCTAATATAGCCTCAGTTTTCCTGGTGGGAAAAGATAAGCAAAAGAGCCAGTTGGATTGGACCTTTTGACTCTGCTTGGAAAAAAGGGCTACACAACAGCAATTAGCAGCTGGCTCTTTTGCTCTTTGTCCCCTGCCCAGTGTCACAGAACAGTAGAGTGTTCTGGGCCTACCTTGGAGTCCTGGGCTCACTTGGGCCTAGATCTGACAGGTTGTGTCCTTCCAGTCCTTGCTCATACTCAAGTACAGTATATTCTACTTTAGGTTGGGCCCTGGGCTCTGCTTCCTGTTTTGGAGGCTTGTTGGGGCTGGCTGTGGGCAGGACCTATGTAAACCAAAATAAATAGGACAGTGCAGCATGGACTTCAGAGAATAAGAGCAGTTCAAGAAGTGGGGGCTTGGCCACTGGAACTTTGAAGGAAGGGATCAGCTACGCAAGGACTAGAAGGCACTTTTTGGCAGGAGCAGTGTGTGAATAAGGTGTGGGGTAGGGGTGCTGGTGTTTGTTTCAGGTGTGTCTTACAGGATCACTGAGGCTTCAAATATCCTGGCAAGCTGGTACAAGTGTGTTCTTGCCTAATGGCTTGATGGGGCTTGCTCAATAGTTGTACCGTGGTGTGCAAGGGGCTTCTCTACCTGTGAAGGAGGCACATTGGCTGACCCTTGCCATGTACATGGGTCTCAGACTTGAACTTGGGGCAGCATTCTCTGCATCTGGGTCTGCTGTCAGTTGCTGGTTGCTTCTGAAGATGCTTTTAGTGCCAGTGTCCTCACAGCCATGGGTGGCCTGAGTGGGGAGTGGCCTCAGTGGCCTGGGAGTTGAAGGCAGCTGTATTCTTGCCTCTTGGAAACTCAGCGAAATGTTTGGTTGCTCCATCATTCCATGGAGCTTTTGGAGTGAAGCTTTGGGCCACCAGGACTCCATGCTGTTGGTAGACTTGCTCTTCAGAGGCCCATTTTATTTACCTCTTCCATTGCCCCGCTCAGTTTAGGCAGGTTATTTAATCTCATTAAGCTCTAGTTTTCTCACCTCTTAAATAAGGATAATAACTCTACATAATAGAGTTGCTATGAAGATGATACACTATGACATGTGTGAAGAATTTAGCACAGTGCCTGGCACTTAATAAGCACTTCAAGTGTTAGTTGCCATTATGGTGATTTCTGTGGTCTTCTAGACTTCACCTTTCCCAATTCTCTCTCCTAGACTCCTAGGAAACGGAAATCCAGCAGTGAGACCCAGATCCAGGAGTGTTTCCTGTCTCCTTTTCGGAAACCTTTGAGTCAGCTAACCAATCAACCACCTTGTCTGGACAGCAGTCAGCATGTAAGCCAGAACTGCAACCTGCATGTGTATGTCTGTGCCCAGTCACTCAGCCTAGGTAGACTCCTGTCCCTGTACACTCCCTCAGTGCTTTCTAGAGTGGCCAGAAGACACACATCTGTAGGGGCTTTGGACCTGCCCACAGCTGCTGGGGCCTGCTTAGAGAGGTGTGCCTGACTTGTGCCTGGTTTATAGTAGCTACATGGGCACCAGATATCAGATGGTTCAGATTCCTGAGGAAAGGAGGGTAAAGGAACTAGGATCCTCATGTCAGCTCAGACTCTGACTCTGTATATGACTTTAAGGTGTACCAGAGTCATGTATTTCCTCTAGTAAAGTCAAACTTAATCACCACCATGGCAGGTTCTGTGCATTGCCTCATGTAATTCTCACGTTTTAAGATGAGAAAACAGTCTCAGAAGGGTTAAGTAATTTGCTCAGAGTGGGTGGAGCAGATCTGTCTATCTCCAAAGCTTTTCCACTAAGCTTTATGAGGAATGTTTTGAAGGAAAAGTAGGAATACATAATGGAGATTAGTCATTTGTGCATTCAGCAAACATTTAAAAACGGTTTTGTGGCCGGGTCGGGTGGTTCACGCCTGTAATCACAGCACTTTGGAAGGCTGAGATGGGTGGATCAACTGAGGTTAGGAGTTTGAGACCAGCCTGGCCAACATGGTGAAACCCCGTCTCTACTAAAAATACAAAAATTAACTGGGCATGGTGTCATACCCCTGTAGTCCCAGCTACTCAAGTGAGGCATGAGAATCACTTGAACCCGGGAGGCCGAGGTTGCAGTGAGTCAAGATCACGCCACTGCACTCCAGCCTGGGCAAGAGTGAGACTCGGTCTCAAAAAAAAAAAACAAAAAACAAAAAACAAAACAAAACAACTAAATGAAAACAGTTTTGGGCCAGGCGCAGTGGCTCACGCCTGTAATCCCAACACTTTGGGAGGCCGAGGTGGATGGATCACCTGAGGTCAGGAGTTCAAGACCAGCCTGGCCAACATGGTGAAATCCCGTCTCTATTAAAAATACAGAGAAAATTAGCCAGGCATGGTGGTGCATGCCTGTAATCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATCACTTGAACCCGGGAGGCAGCGGTTGCAGTGAGCCGAGATCATGCCATTGCACTCCAGCCTGGGCGACAAGAGTGAAAATCCGTCCCCAAAACAACAACAAAAAAACAACAGTTTTGTGTAATACTTGATAAATATAGATATATTACATAAGTTATAAAACACAAACACCCGTGAACCCATCATCCAGGACTAGAACATTGTCAAACCCATAATCCCTTTTCCCATCCCCAGAGGTAATCACTATCTTGAATTTTATCCATCATCTTTTGCTTTTATGATAGTTTTAGCATACATATAAAAATCACTAATACAGCCTTGGCAACAGAGTGAGACCACCTCAAAAAAAAAATCACTAATACATTGTTTAATTGGTTCTTTGAACTTTAAAAAATGGTGTTGGGTGGGCATGTTGGTTCATGCCTGTAATCCCAGCATTCTGGGAGGCCAAGGTAGGCGGATAGCTTGAGCTCAGGAGTTTGAGACCAACCCAGGCAACATGGTGAAACCCCATCTCTACCAAAAATACAAAAAAAATTAGCTGGGCATGGTGGCGTGTGCCTGTTGTCCCAGCTACTTGGGAGGCTGACATGGGAGGATCACTTGAGCTTAGGAGGTGGAGGTTGCAGTGAGCTGAGATTGGCACCATTGCACTCCAGCCTGGGTGACAGAGCGAGACCCCGTCTCAAAAGAAAGAAAATGGTGTTAAAATGGTGTGTAATCCTCTGGGACTGTTTCATTCAGGATTTGTTCAAAGTTGTCCTGTGTAACTACATGGCATAAGTGCAGTTGTGGGAGTGCACAACAGGAGACCTATGGGTCTGGAGATTGGGGAAGACCTGCCTCTGAGAGATGTGCTGTTAAGTCCTGAAAGATATGAGGGGTTAGACAGGTGAAGGGAGTGGAAAACATTCTAATAGA
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CCGCGCAACTACCTCCTCCCTTCACCCGGACTGGGACCATCATCCCCACTCCACTCCGCCCAGTCTGGGACTCCACCTGCCTCCTCCCCAATCCCACACTAATCTCTGCTTGGTCTCTTCCTCTTTGGCCTAATCTCTCGTCTCGGCTTATTGGGGACGGCCACTCTCACAGTTTGGTTCCAAACACCAGTTCCTGGATGGATTCCCGCCATCCATGCCCCCTCTTTAATTAGCCGGTCCTCTCAATAATGTAGCAGCCCCCTCTACAGATTAGACCCTGGTCCTACACTCTTAGCCGCTGCCTGCTTTTGACCTTTGGCTCATGGGTACTTGACGTTTTAAACTCCTAGGCCCAGGATGGTAAGTGTGGGCCTAGGGGAGACTGGGAATAGCCCTGGGTCAGGGTCTAGTAGGCCTAGGCTGCAGGATCCTTGCAGGCACTGTTTCTGTTCTCCCTTTACAGAGGAGGAGCTTGGCTCCCAGCCAGCTGGCCAAGAGAAAACCTGAAGGCAGGTCCTGTGATGATGAAGACTGGCAACCTGGCCTAGTGGTGAGCACTCAAGGGGACAGGGAAGGTGGGTAGAGCTGTTTGGACAGAAAAGAAGCCAGGATTTGGTTTCTAGGGTTACATAGCCAATTCCAGATGCCTCTTTTGTATGTTCAATAAACTTTTAGTGAGTACTTACTATGTGCCAGGCATTGAACAAGATTAGTAAAATCTTTATCCTCAGGGTAGTCACTAGAAGCTAATATAGCCTCAGTTTTCCTGGTGGGAAAAGATAAGCAAAAGAGCCAGTTGGATTGGACCTTTTGACTCTGCTTGGAAAAAAGGGCTACACAACAGCAATTAGCAGCTGGCTCTTTTGCTCTTTGTCCCCTGCCCAGTGTCACAGAACAGTAGAGTGTTCTGGGCCTACCTTGGAGTCCTGGGCTCACTTGGGCCTAGATCTGACAGGTTGTGTCCTTCCAGTCCTTGCTCATACTCAAGTACAGTATATTCTACTTTAGGTTGGGCCCTGGGCTCTGCTTCCTGTTTTGGAGGCTTGTTGGGGCTGGCTGTGGGCAGGACCTATGTAAACCAAAATAAATAGGACAGTGCAGCATGGACTTCAGAGAATAAGAGCAGTTCAAGAAGTGGGGGCTTGGCCACTGGAACTTTGAAGGAAGGGATCAGCTACGCAAGGACTAGAAGGCACTTTTTGGCAGGAGCAGTGTGTGAATAAGGTGTGGGGTAGGGGTGCTGGTGTTTGTTTCAGGTGTGTCTTACAGGATCACTGAGGCTTCAAATATCCTGGCAAGCTGGTACAAGTGTGTTCTTGCCTAATGGCTTGATGGGGCTTGCTCAATAGTTGTACCGTGGTGTGCAAGGGGCTTCTCTACCTGTGAAGGAGGCACATTGGCTGACCCTTGCCATGTACATGGGTCTCAGACTTGAACTTGGGGCAGCATTCTCTGCATCTGGGTCTGCTGTCAGTTGCTGGTTGCTTCTGAAGATGCTTTTAGTGCCAGTGTCCTCACAGCCATGGGTGGCCTGAGTGGGGAGTGGCCTCAGTGGCCTGGGAGTTGAAGGCAGCTGTATTCTTGCCTCTTGGAAACTCAGCGAAATGTTTGGTTGCTCCATCATTCCATGGAGCTTTTGGAGTGAAGCTTTGGGCCACCAGGACTCCATGCTGTTGGTAGACTTGCTCTTCAGAGGCCCATTTTATTTACCTCTTCCATTGCCCCGCTCAGTTTAGGCAGGTTATTTAATCTCATTAAGCTCTAGTTTTCTCACCTCTTAAATAAGGATAATAACTCTACATAATAGAGTTGCTATGAAGATGATACACTATGACATGTGTGAAGAATTTAGCACAGTGCCTGGCACTTAATAAGCACTTCAAGTGTTAGTTGCCATTATGGTGATTTCTGTGGTCTTCTAGACTTCACCTTTCCCAATTCTCTCTCCTAGACTCCTAGGAAACGGAAATCCAGCAGTGAGACCCAGATCCAGGAGTGTTTCCTGTCTCCTTTTCGGAAACCTTTGAGTCAGCTAACCAATCAACCACATTGTCTGGACAGCAGTCAGCATGTAAGCCAGAACTGCAACCTGCATGTGTATGTCTGTGCCCAGTCACTCAGCCTAGGTAGACTCCTGTCCCTGTACACTCCCTCAGTGCTTTCTAGAGTGGCCAGAAGACACACATCTGTAGGGGCTTTGGACCTGCCCACAGCTGCTGGGGCCTGCTTAGAGAGGTGTGCCTGACTTGTGCCTGGTTTATAGTAGCTACATGGGCACCAGATATCAGATGGTTCAGATTCCTGAGGAAAGGAGGGTAAAGGAACTAGGATCCTCATGTCAGCTCAGACTCTGACTCTGTATATGACTTTAAGGTGTACCAGAGTCATGTATTTCCTCTAGTAAAGTCAAACTTAATCACCACCATGGCAGGTTCTGTGCATTGCCTCATGTAATTCTCACGTTTTAAGATGAGAAAACAGTCTCAGAAGGGTTAAGTAATTTGCTCAGAGTGGGTGGAGCAGATCTGTCTATCTCCAAAGCTTTTCCACTAAGCTTTATGAGGAATGTTTTGAAGGAAAAGTAGGAATACATAATGGAGATTAGTCATTTGTGCATTCAGCAAACATTTAAAAACGGTTTTGTGGCCGGGTCGGGTGGTTCACGCCTGTAATCACAGCACTTTGGAAGGCTGAGATGGGTGGATCAACTGAGGTTAGGAGTTTGAGACCAGCCTGGCCAACATGGTGAAACCCCGTCTCTACTAAAAATACAAAAATTAACTGGGCATGGTGTCATACCCCTGTAGTCCCAGCTACTCAAGTGAGGCATGAGAATCACTTGAACCCGGGAGGCCGAGGTTGCAGTGAGTCAAGATCACGCCACTGCACTCCAGCCTGGGCAAGAGTGAGACTCGGTCTCAAAAAAAAAAAACAAAAAACAAAAAACAAAACAAAACAACTAAATGAAAACAGTTTTGGGCCAGGCGCAGTGGCTCACGCCTGTAATCCCAACACTTTGGGAGGCCGAGGTGGATGGATCACCTGAGGTCAGGAGTTCAAGACCAGCCTGGCCAACATGGTGAAATCCCGTCTCTATTAAAAATACAGAGAAAATTAGCCAGGCATGGTGGTGCATGCCTGTAATCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATCACTTGAACCCGGGAGGCAGCGGTTGCAGTGAGCCGAGATCATGCCATTGCACTCCAGCCTGGGCGACAAGAGTGAAAATCCGTCCCCAAAACAACAACAAAAAAACAACAGTTTTGTGTAATACTTGATAAATATAGATATATTACATAAGTTATAAAACACAAACACCCGTGAACCCATCATCCAGGACTAGAACATTGTCAAACCCATAATCCCTTTTCCCATCCCCAGAGGTAATCACTATCTTGAATTTTATCCATCATCTTTTGCTTTTATGATAGTTTTAGCATACATATAAAAATCACTAATACAGCCTTGGCAACAGAGTGAGACCACCTCAAAAAAAAAATCACTAATACATTGTTTAATTGGTTCTTTGAACTTTAAAAAATGGTGTTGGGTGGGCATGTTGGTTCATGCCTGTAATCCCAGCATTCTGGGAGGCCAAGGTAGGCGGATAGCTTGAGCTCAGGAGTTTGAGACCAACCCAGGCAACATGGTGAAACCCCATCTCTACCAAAAATACAAAAAAAATTAGCTGGGCATGGTGGCGTGTGCCTGTTGTCCCAGCTACTTGGGAGGCTGACATGGGAGGATCACTTGAGCTTAGGAGGTGGAGGTTGCAGTGAGCTGAGATTGGCACCATTGCACTCCAGCCTGGGTGACAGAGCGAGACCCCGTCTCAAAAGAAAGAAAATGGTGTTAAAATGGTGTGTAATCCTCTGGGACTGTTTCATTCAGGATTTGTTCAAAGTTGTCCTGTGTAACTACATGGCATAAGTGCAGTTGTGGGAGTGCACAACAGGAGACCTATGGGTCTGGAGATTGGGGAAGACCTGCCTCTGAGAGATGTGCTGTTAAGTCCTGAAAGATATGAGGGGTTAGACAGGTGAAGGGAGTGGAAAACATTCTAATAGA
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Task1_train_892
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A genetic alteration is present in RAD54L (RAD54 like) on Chromosome 1. Is this variant benign or disease-causing, and if the latter, which condition is involved?
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Pathogenic; Breast ductal adenocarcinoma
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GCAAACTCCTGACCTCAGGTGATCCACTTGCCTTAACCTCCCAAAGTGCTAGGATTACAGGCATGAGCCACCATGCCCCGTTGGTTTATTTAATCTTTAATAGCAACATTGGTCATTATTTCATTCTTTCATTCAACTAATATTCACTGAGCTTTGTCCTATACACTGAAATTATACAGGCGAATCTGACATAGTCTCTGCCTTAAGAAATCCTAGTCTCTGCCTAGTTGAGAAGATAAAGTACAGTAGAGTGTGATTAGTACTCTAGTATATATATTATGGATGAGGGCAGAGTGGTACAGTGTCCAGACTCAGAGTCATACAGACCTGAGTTCAAATCCCAGCTCTGCTACTTTCTACCGGCATGATTTTGGATAACTGTTTACCTCTCTGAATCTTAGTTTCTTCATCTCTAAAATGGATAATACAATTTCCATTCGTGTGGATTACAGAACAGAATACAGGTAAAGTGTTTAGTTAGTACCATGCCTACCACATTAAACGGGTTCACTAAATAGTAGCAGCCATTACGTATATAGTGCCACAGGAGCACAGAGTTGAGAGAGACAAGCAGCCTGGAGTCACTGAGGAAGGCTTTGCATAGGAGGTGACATCTGAGGAACTTGCCTGTGGAAAAGAGCTCTAGGCAGAGGGGTGGCATGGGCAAAGAGACATAAGGAAAGCCAGCATTAGGAGTGACAAGGTCAGGATTCCTGGACCGTGACAAGCTTGGAGAGTGTCAGAGAAGTTCACTGGGGCCTCATTGAGAAGGGCTTTGAATGCTAAGCTAGTGAGCTTAAAGAGCTTGGACTTGATGCTATAGATGGAAGAGTCAGTGAAGGGTCTGCATTTAATTGCGTTGTCAAAGCCTGACCCAAGGGAGCAAGACTGATTGCTGATTCTTGGTTGAGTGGTTGAGTTTTGTGTGCCTTCCCCAGTATGGGGCTGGATGTAGAAAAGGTATGGGCCTAATCTTGCCCATGTAGTTCTTGGAGAAAGAGGGAAGGTTGTCCTTTATGATTTTCTTGAAAAAGGCTTAAAAGAAGTAGTAGAGGTGTGGAGAGAATGGGAGGACAGGACAGGGAGAATAGAGATTGGGGAAGAGATGTGAAGGGAAGCAGAGGGAAGCTCTTTAGCTCTACTAGCTGTGAGGATTCTGGTGGGACATGGAGCCTGGTCCAAGTCCCTTTAACACTGATGGCCCAGACAAGGCCTGGAGTCTAATACAGAAGGCGTCTGGCTCAGAAGGTTCTGAGTTGGGTAGGCTGATGTGGAGGGGAGGACTCCCTGAAAGCATGGGTTTGTCATATGTCCACATGATCTCTGAAGAGTATAGGTGGGCTGCCAAGGCTCTGGAGGTGGGGCAGGGAAAGGGATGGAAAGGAACAGAGGGAATCTTTGCTTTATGGGTATAGCACTGGTCTGGAAACAGGAAGTCTGTCTTTTGAGCCTAATATTCTCCATAGTTAAGTGGGTGAACCCTCTCTCATGCTGCCCCCTGCCTAGTTCCCAAGGCCCTAGAACCTGTAATGTTTTTGTTTTTTGTTGAGACAGTTTCTCACTATGTCACTATAGTGGTGGCATATGCCTGTAGTCCCAGCTACTCAGGAGACTGAGGTGGGAGGATTGCAGTGCACTCACGGCTCACTGAAGCCTCGACCTCCTGGACTCAAGCGATCTTCCCATCTCAGCCTCCCAAGTAGCTGGGGCTATGGGTGTAAGCTACTATGCCCAGCTAATTTTTGTATGTTTTGTAGAGATGGGGTTTCACCACACTGGCCAGGCTGGTCTGGAACTCCTGGGCTCAAGTGATCCACCTGTCTCGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACGGCGCCCGGCCTGGAATGTTTTTGACTCCTCTTTTCCTGTCTACATGAGACTTTGCTACCGTATAGGGAATGCCACATTGCGCTCTGAATAAGGATTCTCTTGCAGGGACACAGGCTCAAGAACTCTGAGAATCAGACTTACCAAGCCCTGGACAGCTTGAACACCAGCCGGCGGGTGCTCATCTCCGGAACTCCCATCCAGAATGATCTGCTTGAGTATTTCAGCTTGGTACATTTTGTTAATTCCGGCATCCTAGGTAAGAATCTAGCCTTGTTTGCCACATCAGAGAGGAGCCCTGCCTTGTCTTTGGGAGTATAACTCCAGCTGAGGAGAGAAAGAAGAGAATGCTAGTTATATGTGGGTCACTAGGCATTCTTGTAGGAAGGCTTCTCTTGTCAGGGAGTAGCAAAGCCATTGGGAGGCCTTGGATCTGCTGAGCAACTCAGCAAAGCCCATGTTGGCCATTTTTCCATTGCAGAGGTGGCAGGGGCTATACAGGGAATGGTGTCATGATGAGCTGAGGGTGGAATTATTATTTTTGTTCCTCAGATCCTAGCTCCCTTAGAAGAGTTTTGGCCTCAGAGCAAGCTCTGTCTTGGGCAGACGTGTGTGTTTTAAAAATCATTTTAACCATTTTTAAATGTAACAATTCAGTGGTATTAAGTACATTCACTTTGTGCAACCATCACCATCATCCATCTTCAGATTTTTTTTTTCTATTTGCTAAACTTAAAATCTACCCAATAACTCCTCTACCCTCCCCTCCCAGTGCTTTGAGAGGCTGGGGTGGGAAGATCACTTGAGGCCAGTTCAAGACCAGCCTGGGCAACATAGTGAGACCTTGTCTCTACAAAATAAGAAAATTAGCTGGGTGTGGTGGTGTGTGCTGGTGGTCCTAGCTATTCAGGAGGCTGTGATCATGCCACTGCACTCTAGCCTGGGCAACAGAGCAAGGCCCTGTCTCTAAAATAGTAATAATAATCAAAACTCCTCATTCCTCCCTCCCCTAATCCCTGGCAACCACACATATATTTGTGAAAGGGTGTGTTAGTGTCACCCCAACTTGCCAGTGCTCAAGAGTAGGCAGAGAACCTGCTGAGTGGCAAGATTATGACCAAGTGAACACATTTGTGTAACCACCATCAGATGAATTACTAACACTCTCTCAGCAGCCCCTTTTCTAATCACTATCCTCTCCTTTTGTCCCGGCAGCAAACTCCTTCCTGACACTATAGGTTGGTTTTGCCTATTTTTGAATTTATGTTAATGAAATCATATAGTATGTATTCCTTTACATCTGGTTTCTTTTGTTCAACATGTTTATAAAGTTTATCCACATTATGTGTAGCAGTAGTTTGTTCATTTTCATAATTGCATACTATTGCATGTTATGAGTACACTACAATTTATTCTACTGGTTTGGTTTTGTTTGTTGAGACAGAGTCTCTGTTGCCCAGGCTGGAGTACAGCGTTGCAGTCATAGCTCACTGTACCCTCAACTTCCTGGGCTCAAGCAATCCTCCCACTTTGGCCTCCTGAGTAGCTGGGACTACAGGCATATGCCACCACTATTGGCTAACTTTTAAATTTTTTATAGAGATGGGGTCTCATATGTTGCTCAGGCTGGTCTTGAATTCCTGGGTTCAAATGATTCTCTTGTATCAGCCTCCCAAACTGCTGGAATTATGGGCATGAGCCCCTATGCCTGGCTTCCATCTTTTTCTGTTTGGATATCTGGTTCACCCTACATCATATATTGAAAAAACCGTTCTTTCCCCCATTGCTTTGCAGTGCTACCTTCTTCATAAATCAAATGTTCATATATGTGTTGCTCTATTTATGGACTCTATTCTGTTCCTCTGGTCCGTTTGTCTCCTTGTGTCAGTACTTCTCTGCTTTATTTACTGTGGCCTAATAAGTCTTGATATCCATTAGTGTGAATATTCCAACTATAGTCTTTTTTTTTTTTTTTTGACACAGGGTCTCGCTTTGTCACCCAGGCTGGAATGCAGTGGTGAGATCATGGCTCACTGCAGCCTTAACTTCCGGGCTCTAGTGATCCTCCTGCCTCAGCCTCCTGAGTAGCTGGGACAACAGGCACACACCATCATGCCTGGCTAATTTTTGTATTTTGGGTAGAGGTGGGGTTTTGCCATGTTGCCCAGGCTGGTCTTGAACTCTTGAGCTCAAGCAATCTGCTCAGCCTCCAACTATATTCTTACTCCTTAACATTG
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GCAAACTCCTGACCTCAGGTGATCCACTTGCCTTAACCTCCCAAAGTGCTAGGATTACAGGCATGAGCCACCATGCCCCGTTGGTTTATTTAATCTTTAATAGCAACATTGGTCATTATTTCATTCTTTCATTCAACTAATATTCACTGAGCTTTGTCCTATACACTGAAATTATACAGGCGAATCTGACATAGTCTCTGCCTTAAGAAATCCTAGTCTCTGCCTAGTTGAGAAGATAAAGTACAGTAGAGTGTGATTAGTACTCTAGTATATATATTATGGATGAGGGCAGAGTGGTACAGTGTCCAGACTCAGAGTCATACAGACCTGAGTTCAAATCCCAGCTCTGCTACTTTCTACCGGCATGATTTTGGATAACTGTTTACCTCTCTGAATCTTAGTTTCTTCATCTCTAAAATGGATAATACAATTTCCATTCGTGTGGATTACAGAACAGAATACAGGTAAAGTGTTTAGTTAGTACCATGCCTACCACATTAAACGGGTTCACTAAATAGTAGCAGCCATTACGTATATAGTGCCACAGGAGCACAGAGTTGAGAGAGACAAGCAGCCTGGAGTCACTGAGGAAGGCTTTGCATAGGAGGTGACATCTGAGGAACTTGCCTGTGGAAAAGAGCTCTAGGCAGAGGGGTGGCATGGGCAAAGAGACATAAGGAAAGCCAGCATTAGGAGTGACAAGGTCAGGATTCCTGGACCGTGACAAGCTTGGAGAGTGTCAGAGAAGTTCACTGGGGCCTCATTGAGAAGGGCTTTGAATGCTAAGCTAGTGAGCTTAAAGAGCTTGGACTTGATGCTATAGATGGAAGAGTCAGTGAAGGGTCTGCATTTAATTGCGTTGTCAAAGCCTGACCCAAGGGAGCAAGACTGATTGCTGATTCTTGGTTGAGTGGTTGAGTTTTGTGTGCCTTCCCCAGTATGGGGCTGGATGTAGAAAAGGTATGGGCCTAATCTTGCCCATGTAGTTCTTGGAGAAAGAGGGAAGGTTGTCCTTTATGATTTTCTTGAAAAAGGCTTAAAAGAAGTAGTAGAGGTGTGGAGAGAATGGGAGGACAGGACAGGGAGAATAGAGATTGGGGAAGAGATGTGAAGGGAAGCAGAGGGAAGCTCTTTAGCTCTACTAGCTGTGAGGATTCTGGTGGGACATGGAGCCTGGTCCAAGTCCCTTTAACACTGATGGCCCAGACAAGGCCTGGAGTCTAATACAGAAGGCGTCTGGCTCAGAAGGTTCTGAGTTGGGTAGGCTGATGTGGAGGGGAGGACTCCCTGAAAGCATGGGTTTGTCATATGTCCACATGATCTCTGAAGAGTATAGGTGGGCTGCCAAGGCTCTGGAGGTGGGGCAGGGAAAGGGATGGAAAGGAACAGAGGGAATCTTTGCTTTATGGGTATAGCACTGGTCTGGAAACAGGAAGTCTGTCTTTTGAGCCTAATATTCTCCATAGTTAAGTGGGTGAACCCTCTCTCATGCTGCCCCCTGCCTAGTTCCCAAGGCCCTAGAACCTGTAATGTTTTTGTTTTTTGTTGAGACAGTTTCTCACTATGTCACTATAGTGGTGGCATATGCCTGTAGTCCCAGCTACTCAGGAGACTGAGGTGGGAGGATTGCAGTGCACTCACGGCTCACTGAAGCCTCGACCTCCTGGACTCAAGCGATCTTCCCATCTCAGCCTCCCAAGTAGCTGGGGCTATGGGTGTAAGCTACTATGCCCAGCTAATTTTTGTATGTTTTGTAGAGATGGGGTTTCACCACACTGGCCAGGCTGGTCTGGAACTCCTGGGCTCAAGTGATCCACCTGTCTCGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACGGCGCCCGGCCTGGAATGTTTTTGACTCCTCTTTTCCTGTCTACATGAGACTTTGCTACCGTATAGGGAATGCCACATTGCGCTCTGAATAAGGATTCTCTTGCAGGGACACAGGCTCAAGAACTCTGAGAATCAGACTTACCAAGCCCTGGACAGCTTGAACACCAGCCGGCGGGTGCTCATCTCCAGAACTCCCATCCAGAATGATCTGCTTGAGTATTTCAGCTTGGTACATTTTGTTAATTCCGGCATCCTAGGTAAGAATCTAGCCTTGTTTGCCACATCAGAGAGGAGCCCTGCCTTGTCTTTGGGAGTATAACTCCAGCTGAGGAGAGAAAGAAGAGAATGCTAGTTATATGTGGGTCACTAGGCATTCTTGTAGGAAGGCTTCTCTTGTCAGGGAGTAGCAAAGCCATTGGGAGGCCTTGGATCTGCTGAGCAACTCAGCAAAGCCCATGTTGGCCATTTTTCCATTGCAGAGGTGGCAGGGGCTATACAGGGAATGGTGTCATGATGAGCTGAGGGTGGAATTATTATTTTTGTTCCTCAGATCCTAGCTCCCTTAGAAGAGTTTTGGCCTCAGAGCAAGCTCTGTCTTGGGCAGACGTGTGTGTTTTAAAAATCATTTTAACCATTTTTAAATGTAACAATTCAGTGGTATTAAGTACATTCACTTTGTGCAACCATCACCATCATCCATCTTCAGATTTTTTTTTTCTATTTGCTAAACTTAAAATCTACCCAATAACTCCTCTACCCTCCCCTCCCAGTGCTTTGAGAGGCTGGGGTGGGAAGATCACTTGAGGCCAGTTCAAGACCAGCCTGGGCAACATAGTGAGACCTTGTCTCTACAAAATAAGAAAATTAGCTGGGTGTGGTGGTGTGTGCTGGTGGTCCTAGCTATTCAGGAGGCTGTGATCATGCCACTGCACTCTAGCCTGGGCAACAGAGCAAGGCCCTGTCTCTAAAATAGTAATAATAATCAAAACTCCTCATTCCTCCCTCCCCTAATCCCTGGCAACCACACATATATTTGTGAAAGGGTGTGTTAGTGTCACCCCAACTTGCCAGTGCTCAAGAGTAGGCAGAGAACCTGCTGAGTGGCAAGATTATGACCAAGTGAACACATTTGTGTAACCACCATCAGATGAATTACTAACACTCTCTCAGCAGCCCCTTTTCTAATCACTATCCTCTCCTTTTGTCCCGGCAGCAAACTCCTTCCTGACACTATAGGTTGGTTTTGCCTATTTTTGAATTTATGTTAATGAAATCATATAGTATGTATTCCTTTACATCTGGTTTCTTTTGTTCAACATGTTTATAAAGTTTATCCACATTATGTGTAGCAGTAGTTTGTTCATTTTCATAATTGCATACTATTGCATGTTATGAGTACACTACAATTTATTCTACTGGTTTGGTTTTGTTTGTTGAGACAGAGTCTCTGTTGCCCAGGCTGGAGTACAGCGTTGCAGTCATAGCTCACTGTACCCTCAACTTCCTGGGCTCAAGCAATCCTCCCACTTTGGCCTCCTGAGTAGCTGGGACTACAGGCATATGCCACCACTATTGGCTAACTTTTAAATTTTTTATAGAGATGGGGTCTCATATGTTGCTCAGGCTGGTCTTGAATTCCTGGGTTCAAATGATTCTCTTGTATCAGCCTCCCAAACTGCTGGAATTATGGGCATGAGCCCCTATGCCTGGCTTCCATCTTTTTCTGTTTGGATATCTGGTTCACCCTACATCATATATTGAAAAAACCGTTCTTTCCCCCATTGCTTTGCAGTGCTACCTTCTTCATAAATCAAATGTTCATATATGTGTTGCTCTATTTATGGACTCTATTCTGTTCCTCTGGTCCGTTTGTCTCCTTGTGTCAGTACTTCTCTGCTTTATTTACTGTGGCCTAATAAGTCTTGATATCCATTAGTGTGAATATTCCAACTATAGTCTTTTTTTTTTTTTTTTGACACAGGGTCTCGCTTTGTCACCCAGGCTGGAATGCAGTGGTGAGATCATGGCTCACTGCAGCCTTAACTTCCGGGCTCTAGTGATCCTCCTGCCTCAGCCTCCTGAGTAGCTGGGACAACAGGCACACACCATCATGCCTGGCTAATTTTTGTATTTTGGGTAGAGGTGGGGTTTTGCCATGTTGCCCAGGCTGGTCTTGAACTCTTGAGCTCAAGCAATCTGCTCAGCCTCCAACTATATTCTTACTCCTTAACATTG
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Task1_train_893
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The gene RAD54L (RAD54 like) is located on Chromosome 1, where a mutation has occurred. What is the medical relevance of this mutation?
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Pathogenic; Non-Hodgkin lymphoma
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GAGACGCTGCTGCTAGTGAGGCAGACAGGCAGCTAGGAGAGGAGCGGCTGCGGGAGCTCACCAGCATTGTGAATAGGTAATGACCTTAAGCGAAGTCATTAGAATTGCCTCCCAAACCATCCATGGCCAATCCTTTGGGGGCTTTGCCTCTCTAGAGCCCTCAAAGGCTGGGATTCTAGGAAGGGAGTGGGTTCTGTGTCCTAACTATGGCCACTGAATAAACAAGGGAGTCTTGGAGGTGAAGTGCCTGCTTTCTTTCTGGCTTGGGCTCTGTGGTCTGGTTTTGGTCTGTTTATCAGCCTGCTGAGGAAGCTTTTCTCTGATGCTGCTGGACTTCTTGAGCAAAGTATACCTTGGAGCATTACTAGTATTTCAGAAGCTTCCTGTCAGTTGGTCTCAGACCCGAAACATTAGGCTTCTCTTCCCAGGCCCCATAGTCATTCTGTGACAGGTAGGAGAAGATCTGAAAGGTGGTTGTGGCTCCCAGGCTAAGGGGACTGACTTTTTCATGGGAGTTACATAACCCAGAGGGTAGGCACATTCTGGACTCCTTTGTCCAGAGGTGGTATGCACACTTGATAGGTTACATTCTAAAGAGTCCTCCTGCCCTTCCCAACAACTGCCTGGCTACCTGGCTACCTCTCCCTACCAATTTTAGATGGCAGGACGGGCATGGTGGCTCACGCCTATAATCCCACCACTTTGGGAAGCTGAGGCGAGTGGATCACTTGAGGTAAGGAGTTCGAGACCAGCCTGGCCAACATGGGGAAACTCCCATCTCTACTAAATATACAGAAATTAGCTGGGTGTGGTTGGGGTGCACCTGTAGTCCCGGTTACTCTGGAGGGAGAGGCTGGAGAATCGCTTGAACTCGAGAGGCAGAGGTTGGAGTGAGCTGAGCTGCGCCACTGCACCCCAGCCTGGGTGACAGAGCAAGACTCCGTCTCAAAAAAAAAAAATTAGATGGCAGGAAGAAGAATTGGTGTTTTCTTAAGATCTGCTTCTTAGGTGCCTGATACCTATCCTTCATAGTCTTCCCAGGAGGTCTATGCTTAATTTCATTTAGCCTGGGGCCATGTAGCAGCGGGCATTTGGACAAATGCAAGCAGAAACTCCCCTAAGGACTTAGTAATTTACAACTTGCTTTTCCTGTTAGAGCTCCTGTATCAATGGGAAGCCTCAGTCTTCTCTTGAAGACTAGGCAACCTATTGAAGGGGAAGAGAAAGTGCTGCCTGTCTAAGCTAGCATGTTTGGAAGGTCTCTGTTCCCACAATTGAGACCCTGATACAGATGTGTTTGACATAGGTCTGATGACTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGATGGAGTCTTGCTCTTGTTGCCCAAGCTGGAATGCAATGGGGCGATCTCGGCTCACTGCAACCTCCACCTCCTGGGTTCAAGTGATTCTCCTGCCTCAGCTTCCCGAGTAGCTGGGTTTACAGGTGCCTGCCACCACACTTGGCTAATTTTCGTATTTTTAGTAGAGATGGGGTTTCTCCATTTTGGCCAGGCTGGTCTTGAACTCCTGACCACAGGTGATCCGCCCGCCTCAGCTTCCCAAAGTGCTGGGATTACTGGCGTGAGCCACTGCGCCTGGCCGAGTCTCTGACATTTAATACTGTAAAAGAGGGCTAGTCTTGGTCCTTTGGGTGGTAGCTTTTATTCCAGTAGTTAGCATGGCAATTTTACCAGCCTCTTGCCTTTTTATCCTGTTTTCTCTAGATGCCTGATACGGAGGACTTCTGATATCCTTTCTAAATATCTGCCTGTGAAGATTGAGCAGGTCGTTTGTTGTAGGTACTGAACTCAACTGAAAGATGTGGAGTGGGTCAAAGCCTAGCTCCTGAAGCATGGCTGGGCTCTCAAGGTGTTCTCAGAGGGCAGGAGGGTGGTCTAGCTTTTTCCACTGACCCAGCTGCCTTTTTTAGGCTGACACCCCTTCAGACTGAGTTATACAAGAGGTTTCTGAGACAAGCCAAACCGGCAGAAGAATTGCTTGAGGGCAAGATGAGTGTGTCTTCCCTTTCTTCCATCACCTCGCTAAAGAAGCTTTGTAATCGTGAGTTGGGCTTGTGTCCTGGTGTCCTCTGTGAGAGTGAGCAAGGGAGGGTAGGTTCCTGTAGTGGCCTGGCAACCCTCACTAAAACTCGTCCAGAGTCATCCTCATAGAGGCCACATGTGATTCCAACCCTACCCAAGGCATGAACCCTGCATTGTGGAGTCTGTTTACCAGACCCTTTGCTTTGGAAAATTGAACTCATCTTCTGTCCAGCCCATGCTTGATGACCTGGGATGTGTCGACTGTTTGTGAGTGCTTGCATGTACACACGCTCATATACAATGTTGGGCAGGAGGAAAAATAACAAAGAAACCTTGCCTGCTCTGTTATAGCTCCCTTCTTGTTGGGAGAACACATTAGTGAGTGAGATTGTCCATCCATCGTCCCAGATGGCACCGACTATATCCTGTTGGAATTTGGTAGGATGAAGATCAAGCAAGTCTGATGTTGAGGAAGGCCTTTTGGGCTAGGCTTCTAGAGGGAGTTCTAGTGAACACTGAAGTGGAAACTTCAGAAAGCAAAGTATCTGGGTTTTGTTTTGTTTTCTCCCAGATCCAGCTCTAATCTATGATAAGTGTGTGGAAGAGGAGGATGGCTTTGTGGGTGCCTTGGACCTCTTCCCTCCTGGTTACAGCTCTAAGGCCCTGGAGCCCCAGCTGTCAGGTGACCCTTTTCCTACCAGTATTTGGGCTTCTCTAGGAGGAGGGTGGGAGATTTTTTTTTGTGCTAGGGCTGTCCTGTTTCAAGGCAGGATATCAAGAGTAAGAAGCCTGGGCCATTGGGACAGCCAGTAGGGGACTGCTGGTTGCTGCTCTTCCCAGGTAAGATGCTGGTCCTGGATTATATTCTGGCGGTGACCCGAAGCCGTAGCAGTGACAAAGTAGTGCTGGTGTCGAATTACACCCAGACTTTGGATCTCTTTGAGAAGCTGTGCCGTGCCCGAAGGTAGGGAAGATCCTAACCAGGATGCCAAAGGGGGATATACCCCTCCCCTACTGTCTGTCTAGTTCTGATTTGTGGATGTGGGCCAAGATCTGGGCACATAAGGGCTTTCCCTGGAGATATCTTCCCTTATTGCTATGATGGCCTCAGCTCTATCTCCAAGTAGAAGATCCCCTAGTCCTTCAGGTACTCCCTTAGGAAAGAGTCTTGGCCTCTAGCTCCCTGCCCCTGCCTTTGGGAGCTTAGGGCCTCAAGCATGGTTATTTCAGTCCCTTCAGTGGCTCTCCAAGGGACTCTGCTTTCTTGGGTCTTTTTAAAAAAATTTTTATTTTTAATTTTTTTTCCCCCTAATCATTGAAGCTTTATTTTCTTGGGTCTCGAATCCCCCTTCAGGTACTTATACGTCCGCCTGGATGGCACGATGTCCATTAAGAAGCGAGCCAAGGTTGTAGAACGCTTCAATAGTCCATCGGTAAATGCACATCCCCGTCCCCACACCACCAATGCAGTATCATCAGAATTAAGGAATGATAGAGAAGCTATAAGGGGTTACCTTGATTTTTTTTTTTTTTAATTCCCCTAGTGGATATAGTAGGATTTGTCTGGTTGGTGATGGCTGGGCTGGAAACTGACTGTGTGTGTTGGGATTGGCTGGCTGGTGAGCAGATAAACTGGTGGTTTTCACAATTGGTACTGAGTAGTATAGAGGCATGAGGGAGGAGCTGGTTGGGCTGAGCAGGATCCCAGTTTAGGCTATAAGAGGTTCCTTTTCTCCTGTTTCTTCTCTTTCCAGAGCCCTGACTTTGTCTTCATGCTGAGCAGCAAAGCTGGGGGCTGTGGCCTCAATCTCATTGGGGCTAACCGGCTGGTCATGTTTGACCCTGACTGGAACCCAGCCAATGATGAACAAGCCATGGCCCGGGTCTGGCGAGATGGTCAAAAGAAGACTTGCTATATCTACCGCCTGCTGTCTGTAAGGATGGTGATAGTAGTCATAGTAGGGGTGGGTCATGGAACGAGATCTTCAGGACCATCTTGTTCCTTAGTGCCTCTCTTTGGCC
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GAGACGCTGCTGCTAGTGAGGCAGACAGGCAGCTAGGAGAGGAGCGGCTGCGGGAGCTCACCAGCATTGTGAATAGGTAATGACCTTAAGCGAAGTCATTAGAATTGCCTCCCAAACCATCCATGGCCAATCCTTTGGGGGCTTTGCCTCTCTAGAGCCCTCAAAGGCTGGGATTCTAGGAAGGGAGTGGGTTCTGTGTCCTAACTATGGCCACTGAATAAACAAGGGAGTCTTGGAGGTGAAGTGCCTGCTTTCTTTCTGGCTTGGGCTCTGTGGTCTGGTTTTGGTCTGTTTATCAGCCTGCTGAGGAAGCTTTTCTCTGATGCTGCTGGACTTCTTGAGCAAAGTATACCTTGGAGCATTACTAGTATTTCAGAAGCTTCCTGTCAGTTGGTCTCAGACCCGAAACATTAGGCTTCTCTTCCCAGGCCCCATAGTCATTCTGTGACAGGTAGGAGAAGATCTGAAAGGTGGTTGTGGCTCCCAGGCTAAGGGGACTGACTTTTTCATGGGAGTTACATAACCCAGAGGGTAGGCACATTCTGGACTCCTTTGTCCAGAGGTGGTATGCACACTTGATAGGTTACATTCTAAAGAGTCCTCCTGCCCTTCCCAACAACTGCCTGGCTACCTGGCTACCTCTCCCTACCAATTTTAGATGGCAGGACGGGCATGGTGGCTCACGCCTATAATCCCACCACTTTGGGAAGCTGAGGCGAGTGGATCACTTGAGGTAAGGAGTTCGAGACCAGCCTGGCCAACATGGGGAAACTCCCATCTCTACTAAATATACAGAAATTAGCTGGGTGTGGTTGGGGTGCACCTGTAGTCCCGGTTACTCTGGAGGGAGAGGCTGGAGAATCGCTTGAACTCGAGAGGCAGAGGTTGGAGTGAGCTGAGCTGCGCCACTGCACCCCAGCCTGGGTGACAGAGCAAGACTCCGTCTCAAAAAAAAAAAATTAGATGGCAGGAAGAAGAATTGGTGTTTTCTTAAGATCTGCTTCTTAGGTGCCTGATACCTATCCTTCATAGTCTTCCCAGGAGGTCTATGCTTAATTTCATTTAGCCTGGGGCCATGTAGCAGCGGGCATTTGGACAAATGCAAGCAGAAACTCCCCTAAGGACTTAGTAATTTACAACTTGCTTTTCCTGTTAGAGCTCCTGTATCAATGGGAAGCCTCAGTCTTCTCTTGAAGACTAGGCAACCTATTGAAGGGGAAGAGAAAGTGCTGCCTGTCTAAGCTAGCATGTTTGGAAGGTCTCTGTTCCCACAATTGAGACCCTGATACAGATGTGTTTGACATAGGTCTGATGACTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGATGGAGTCTTGCTCTTGTTGCCCAAGCTGGAATGCAATGGGGCGATCTCGGCTCACTGCAACCTCCACCTCCTGGGTTCAAGTGATTCTCCTGCCTCAGCTTCCCGAGTAGCTGGGTTTACAGGTGCCTGCCACCACACTTGGCTAATTTTCGTATTTTTAGTAGAGATGGGGTTTCTCCATTTTGGCCAGGCTGGTCTTGAACTCCTGACCACAGGTGATCCGCCCGCCTCAGCTTCCCAAAGTGCTGGGATTACTGGCGTGAGCCACTGCGCCTGGCCGAGTCTCTGACATTTAATACTGTAAAAGAGGGCTAGTCTTGGTCCTTTGGGTGGTAGCTTTTATTCCAGTAGTTAGCATGGCAATTTTACCAGCCTCTTGCCTTTTTATCCTGTTTTCTCTAGATGCCTGATACGGAGGACTTCTGATATCCTTTCTAAATATCTGCCTGTGAAGATTGAGCAGGTCGTTTGTTGTAGGTACTGAACTCAACTGAAAGATGTGGAGTGGGTCAAAGCCTAGCTCCTGAAGCATGGCTGGGCTCTCAAGGTGTTCTCAGAGGGCAGGAGGGTGGTCTAGCTTTTTCCACTGACCCAGCTGCCTTTTTTAGGCTGACACCCCTTCAGACTGAGTTATACAAGAGGTTTCTGAGACAAGCCAAACCGGCAGAAGAATTGCTTGAGGGCAAGATGAGTGAGTCTTCCCTTTCTTCCATCACCTCGCTAAAGAAGCTTTGTAATCGTGAGTTGGGCTTGTGTCCTGGTGTCCTCTGTGAGAGTGAGCAAGGGAGGGTAGGTTCCTGTAGTGGCCTGGCAACCCTCACTAAAACTCGTCCAGAGTCATCCTCATAGAGGCCACATGTGATTCCAACCCTACCCAAGGCATGAACCCTGCATTGTGGAGTCTGTTTACCAGACCCTTTGCTTTGGAAAATTGAACTCATCTTCTGTCCAGCCCATGCTTGATGACCTGGGATGTGTCGACTGTTTGTGAGTGCTTGCATGTACACACGCTCATATACAATGTTGGGCAGGAGGAAAAATAACAAAGAAACCTTGCCTGCTCTGTTATAGCTCCCTTCTTGTTGGGAGAACACATTAGTGAGTGAGATTGTCCATCCATCGTCCCAGATGGCACCGACTATATCCTGTTGGAATTTGGTAGGATGAAGATCAAGCAAGTCTGATGTTGAGGAAGGCCTTTTGGGCTAGGCTTCTAGAGGGAGTTCTAGTGAACACTGAAGTGGAAACTTCAGAAAGCAAAGTATCTGGGTTTTGTTTTGTTTTCTCCCAGATCCAGCTCTAATCTATGATAAGTGTGTGGAAGAGGAGGATGGCTTTGTGGGTGCCTTGGACCTCTTCCCTCCTGGTTACAGCTCTAAGGCCCTGGAGCCCCAGCTGTCAGGTGACCCTTTTCCTACCAGTATTTGGGCTTCTCTAGGAGGAGGGTGGGAGATTTTTTTTTGTGCTAGGGCTGTCCTGTTTCAAGGCAGGATATCAAGAGTAAGAAGCCTGGGCCATTGGGACAGCCAGTAGGGGACTGCTGGTTGCTGCTCTTCCCAGGTAAGATGCTGGTCCTGGATTATATTCTGGCGGTGACCCGAAGCCGTAGCAGTGACAAAGTAGTGCTGGTGTCGAATTACACCCAGACTTTGGATCTCTTTGAGAAGCTGTGCCGTGCCCGAAGGTAGGGAAGATCCTAACCAGGATGCCAAAGGGGGATATACCCCTCCCCTACTGTCTGTCTAGTTCTGATTTGTGGATGTGGGCCAAGATCTGGGCACATAAGGGCTTTCCCTGGAGATATCTTCCCTTATTGCTATGATGGCCTCAGCTCTATCTCCAAGTAGAAGATCCCCTAGTCCTTCAGGTACTCCCTTAGGAAAGAGTCTTGGCCTCTAGCTCCCTGCCCCTGCCTTTGGGAGCTTAGGGCCTCAAGCATGGTTATTTCAGTCCCTTCAGTGGCTCTCCAAGGGACTCTGCTTTCTTGGGTCTTTTTAAAAAAATTTTTATTTTTAATTTTTTTTCCCCCTAATCATTGAAGCTTTATTTTCTTGGGTCTCGAATCCCCCTTCAGGTACTTATACGTCCGCCTGGATGGCACGATGTCCATTAAGAAGCGAGCCAAGGTTGTAGAACGCTTCAATAGTCCATCGGTAAATGCACATCCCCGTCCCCACACCACCAATGCAGTATCATCAGAATTAAGGAATGATAGAGAAGCTATAAGGGGTTACCTTGATTTTTTTTTTTTTTAATTCCCCTAGTGGATATAGTAGGATTTGTCTGGTTGGTGATGGCTGGGCTGGAAACTGACTGTGTGTGTTGGGATTGGCTGGCTGGTGAGCAGATAAACTGGTGGTTTTCACAATTGGTACTGAGTAGTATAGAGGCATGAGGGAGGAGCTGGTTGGGCTGAGCAGGATCCCAGTTTAGGCTATAAGAGGTTCCTTTTCTCCTGTTTCTTCTCTTTCCAGAGCCCTGACTTTGTCTTCATGCTGAGCAGCAAAGCTGGGGGCTGTGGCCTCAATCTCATTGGGGCTAACCGGCTGGTCATGTTTGACCCTGACTGGAACCCAGCCAATGATGAACAAGCCATGGCCCGGGTCTGGCGAGATGGTCAAAAGAAGACTTGCTATATCTACCGCCTGCTGTCTGTAAGGATGGTGATAGTAGTCATAGTAGGGGTGGGTCATGGAACGAGATCTTCAGGACCATCTTGTTCCTTAGTGCCTCTCTTTGGCC
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Task1_train_894
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The following genetic variant occurs in STIL (STIL centriolar assembly protein) on Chromosome 1. Classify its clinical effect — pathogenic or benign — and list any associated condition.
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Pathogenic; Microcephaly 7, primary, autosomal recessive
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AGGCAATTCTCCTGCCTCAGCCTCCCAAGTACCTGGGACTACATGTGTGCACCACCGTGCCCAGTTACAGGTAAGAGTCACTGAGCCTAGCCTACGATCCTTATTTAATGGAAAATTTCATAATGAAAAATTTCAAACATGAGAGAATTATTTTACAAATCACCATATACAATCAGTTTCAAAAATTACCAAATAGCCAATCTTATTTCATTTATACTCCTAGCCATTTCATTCTCCCACAGAATTAATTTGAAGCAAATCTCAGATAACATTTCATATATAAATATTAAGGTTCTATCACTCAAAAATAGACTCTTTTATATATAATGGCAATACGGAGAATCTTTAGAAATCTCGCCATCTCACAGTGGCTCATGCCTATAATCCCAGCACTTTGGAAGGCTGAGGCAGGCGGATCACCTCAGGTGAGGAGTTCCAGATCAGCCTGGCCAACATGGGAAGCCCCATCTCTACTAAAAATACAAAAATTAGCTGGGCGTGGTGGCGCACGCCTGTAATCCCAGCTGCTTGGGAGGCTGAGGCTCAAGAATGCCTTGAACCTGGGAGGCAGAGGTTGCAGTGAGCCAAGACAGTGCCATTGCACTCCAGCCTGGGTGAAAAAGCGAGACTCTTGTCTCAAAAAATAAATACATAAAATAAAATAGGCTGGGCACAGTGGCTCATGCCTGTAATTCCAGCACTTTAGGAGGTCAAGGTGGGTGGATCACCTGAGGTCAGGAGTTCACGACCAGCCTGGCCAACACGGCGAAACCCCATCTCTAAAAAAAATACAAACAAAATTAGCCCAGCATGGTGGCAGGTGTCTGTAATCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATCACTTGAACCCAGGAGGCAGGGATTGCAGTGAGTCAAGATCGCACCATTGCACTCTAGACTGAGCAACAAGAGAGAAACTCCATCTCATAAATAAATAAATAAATAAATAAATAAATAAATTAAATAAAAGAAATTTCTCCGCCAGGTGTGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCAGGCAGATCACGAGGTCAGGAGATCGAGGCCATCCTGGCTAACATGGTGAAACCCCATCTCTACTAAAAATACAAACACGGAATTAGCCGGGCATGGTGGCAGGAGCCTGTAGTCCCAGCTACACGGGAGGCAGGAGAATGGCGTGAACCCGGGAGGTGGAGATTGCAGTGAGCCGAGATTGCACCACTGCACTCCAGCCTGGGCAACAGAGCGGGACTCCGTCAAAAAAAAAAAAAAAAAAATTTCTCCATCTGTATCTGGAACCTAATATTATCAGATCCTCTAGGGTGAGGCCTGAGCTTGTGTATTTTTGAAGTTTTCTTCCGATTTCTGATTCATCCAGACTGTTAATATAGCCAAAGACTGACATCTGGAAATGGTTCTAGAAGGCTCAGAGTTGTCAGTTACATAGAAATCATATCAAGTAAAGACATAAAAGAAAATACCAGTTAGAAAATATATCATTTCTGAGTTAGAAGACTTTAAAGAAATTAGAATTAAAAACAAAAAAAAACCTGAACAGAACAGCAACTGTAATGAATAATAATACATTGTATATTTCAAAATTGCTAATAGTAGACTTCAAATGTTTTTACCACAGAAAAAGTTAAGTATGTGAAGTGATAGATTTGTTGGTCTGATTTAATCATTCCATACTGTAAACATGCATCTAAACATTGTGCCCCACAAATATATACAATTATTATTTGTCTATCAAAAAAAATTTTTTTTGAAAGTAGGATGAAAGACTAAATCAAAGAGACCTTACTTGGATACAGAAAGTGGCTGGTTAAATTCTTCTTCCACAGCAATGTTGCTCTCTTCAAAACTGGGAATATCAACTGCTTTTAATGAAGATGCACTACCTGGAAGACTTGTGACTTCATTATTAATATCGACAGAAAAATTCATGTCCTCACTGGAAATTTTGGTATCATCTTGCTTCATTTGAGAGTCAGGCTCTTGATCCTCACCTGCTGCATTCCAAAACAAGCTAGCACCTGGAGGTTAAATAATTTAAGATACTGAAACAAACATTCAACTTTAAAAATAATACTCTGCCAAACCTTTGTTAAGAATAGCCATATTGGCTGGGTGCAATGGCTCACGCCTATAATCCCAACACTTTGAGAGGCAGAGGCGGGAGGATCACTTGAGCTCAGGAGTTCGAGACCAGCCTGGGCAACATGGAGAAATCCTGTCTCTACAAAAAAAATACAAAAAAATTAGCCAGGTGTGGTGGTGTGCCTGTAGTCCCATCTACTCAGGAGGCAGAGGTGTAAGATCACTTGAGCCCAGGAGGTCGATGCTGCAATGAGCTGTGATTGTGCTACTGCATTCCAGCCTGGGCAACTCTGGCTCAAAAAAAAAAAAAAATATATATATATATACACACACACACACACACACACACACACACACACACACAATTACTTAGAACTAAGTTTTTAGATTATATTTCCTCAGAAATGCCAGGAAGAGGTAGGTGGAAGACAGAAAGACAAAACACTAGGGGACGGGTCGGGTGGAAGGGCACATTCTGGGTTCTGCTTTTTCAAGAAGGGTGGCTCTGAAATGATTTGCTTTACATATTAAGATTCTGAATATGATCCGTGGGATGGGGTGTGTATGTTGAAAACTGCTGCTCTGAATAATATGAGATAATATATAAAATACAAATCCCTAGGTTCTCTGGTTTTGACACTTAAATGCAATATTTAAAAGACTACATTGGTGATGCATCAGACATCTGTAATATCTGTAATATCAGGCAGGTATTAAAAAAAATCAAGTGTTTCCCAATCTTTTTTTTTTTTTTTTTTTTTTTTTAAGACAGGGTGTCACTTTGTTGCTCAGGCTGGAGTGCAGTGACACAATCACAGCTCACTGCAGCCTCAACGTCCCTGGGCTCAGGTGATCCTCCCACCTCAGCTTCCCGAGTAGCTGGGACTGCAGGTGTGCGCCACCATATGTGGCTAATTTTTGTATTTTTTTTAAAGATGGGGCTTCATCATTTTGACCAGGCTGGTCTCGAACTCCTAGCATCAGGCAATCCACCTGCCTTGACCTCCCAAAGTGCAAACATTATAGGCATGAGCCACTGCGCCCAGCCAATTTCTCAATCTTTATGAAGCACTTACACCTATCTTCAGAGCTATTTGCATGTAATATTGTTTACTTACTCTTTCTTTAAATTAACTCTTTTTTTACTGAGCCTCATTATTTCTCTAAAATCACAGATTTGATATGCTTATTGTATTTATACCTATGAGTATTGGAAAAGATATATTTACAAAATATAAATATTAATCTGTATAACACCCTAAATCATCTTTTGTACCACGAGCCATAGGCATTCTATAATTTGGGGAATATTGCTAATACATAATGGTTTAAACAGATGGTTAAAACCAAAAAGTAGCCTGGGCACAGTGGCTCATGCCTGTAATACAATCCCAGCCCTTTGGGAGGCTGAGGTGGGTGGATCATGCGGTCAGGAGTTGGAGACCAGCCTGACCAACATAGTGAAACCCCATCTCTACTAAAAATACAAAAATTAGCCAGGTGTGGTGGCAGGCGCTTGTAGTCCCAGCTACTCAGGAAAATCACTTGAACCCAGGAGGCGGAGGTTGCAGTGAGCCGAGACTATGCCATTGCACTCCAGCCTGTGTGACGGAGTGAGACTCCGTCTCAAAAAAAAAAAAAAAAAAAAGTAAATCATAGTCAAAATGGTTTCTACTCTGAGGATATACTTGGGTGATTTTATGAAAATAAATTAATACAAACAAGACTGGCTGGACGCGGTGGCTCACGCCTGTAATCCCAACACTTTGGGAGGCTGAGACAGGAGGATTGCTTGAACCTAGGATGGTGGAGGTTGCAGTGAGCTGAGAGTGCACCACACTGCACTCTAGCTTGGGCAACACAGCGAGACTCCATTTCAAAAAAAAAAACAAAAAACAAAAAAAAAACCAGAATTGGGTCCAGCCTAGAAAAGTAGCAAAATCAAACACTTTATCATGTTATGCAGTTTGCAGG
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AGGCAATTCTCCTGCCTCAGCCTCCCAAGTACCTGGGACTACATGTGTGCACCACCGTGCCCAGTTACAGGTAAGAGTCACTGAGCCTAGCCTACGATCCTTATTTAATGGAAAATTTCATAATGAAAAATTTCAAACATGAGAGAATTATTTTACAAATCACCATATACAATCAGTTTCAAAAATTACCAAATAGCCAATCTTATTTCATTTATACTCCTAGCCATTTCATTCTCCCACAGAATTAATTTGAAGCAAATCTCAGATAACATTTCATATATAAATATTAAGGTTCTATCACTCAAAAATAGACTCTTTTATATATAATGGCAATACGGAGAATCTTTAGAAATCTCGCCATCTCACAGTGGCTCATGCCTATAATCCCAGCACTTTGGAAGGCTGAGGCAGGCGGATCACCTCAGGTGAGGAGTTCCAGATCAGCCTGGCCAACATGGGAAGCCCCATCTCTACTAAAAATACAAAAATTAGCTGGGCGTGGTGGCGCACGCCTGTAATCCCAGCTGCTTGGGAGGCTGAGGCTCAAGAATGCCTTGAACCTGGGAGGCAGAGGTTGCAGTGAGCCAAGACAGTGCCATTGCACTCCAGCCTGGGTGAAAAAGCGAGACTCTTGTCTCAAAAAATAAATACATAAAATAAAATAGGCTGGGCACAGTGGCTCATGCCTGTAATTCCAGCACTTTAGGAGGTCAAGGTGGGTGGATCACCTGAGGTCAGGAGTTCACGACCAGCCTGGCCAACACGGCGAAACCCCATCTCTAAAAAAAATACAAACAAAATTAGCCCAGCATGGTGGCAGGTGTCTGTAATCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATCACTTGAACCCAGGAGGCAGGGATTGCAGTGAGTCAAGATCGCACCATTGCACTCTAGACTGAGCAACAAGAGAGAAACTCCATCTCATAAATAAATAAATAAATAAATAAATAAATAAATTAAATAAAAGAAATTTCTCCGCCAGGTGTGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCAGGCAGATCACGAGGTCAGGAGATCGAGGCCATCCTGGCTAACATGGTGAAACCCCATCTCTACTAAAAATACAAACACGGAATTAGCCGGGCATGGTGGCAGGAGCCTGTAGTCCCAGCTACACGGGAGGCAGGAGAATGGCGTGAACCCGGGAGGTGGAGATTGCAGTGAGCCGAGATTGCACCACTGCACTCCAGCCTGGGCAACAGAGCGGGACTCCGTCAAAAAAAAAAAAAAAAAAATTTCTCCATCTGTATCTGGAACCTAATATTATCAGATCCTCTAGGGTGAGGCCTGAGCTTGTGTATTTTTGAAGTTTTCTTCCGATTTCTGATTCATCCAGACTGTTAATATAGCCAAAGACTGACATCTGGAAATGGTTCTAGAAGGCTCAGAGTTGTCAGTTACATAGAAATCATATCAAGTAAAGACATAAAAGAAAATACCAGTTAGAAAATATATCATTTCTGAGTTAGAAGACTTTAAAGAAATTAGAATTAAAAACAAAAAAAAACCTGAACAGAACAGCAACTGTAATGAATAATAATACATTGTATATTTCAAAATTGCTAATAGTAGACTTCAAATGTTTTTACCACAGAAAAAGTTAAGTATGTGAAGTGATAGATTTGTTGGTCTGATTTAATCATTCCATACTGTAAACATGCATCTAAACATTGTGCCCCACAAATATATACAATTATTATTTGTCTATCAAAAAAAATTTTTTTTGAAAGTAGGATGAAAGACTAAATCAAAGAGACCTTACTTGGATACAGAAAGTGGCTGGTTAAATTCTTCTTCCACAGCAATGTTGCTCTCTTCAAAACTGGGAATATCAACTGCTTTTAATGAAGATGCACTACCTGGAAGACTTGTGACTTCATTATTAATATCGACAGAAAAATTCATGTCCTCACTGGAAATTTTGGTATCATCTTGCTTCATTTGAGAGTCAGGCTCTTGATCCTCACCTGCTGCATTCCAAAACCAGCTAGCACCTGGAGGTTAAATAATTTAAGATACTGAAACAAACATTCAACTTTAAAAATAATACTCTGCCAAACCTTTGTTAAGAATAGCCATATTGGCTGGGTGCAATGGCTCACGCCTATAATCCCAACACTTTGAGAGGCAGAGGCGGGAGGATCACTTGAGCTCAGGAGTTCGAGACCAGCCTGGGCAACATGGAGAAATCCTGTCTCTACAAAAAAAATACAAAAAAATTAGCCAGGTGTGGTGGTGTGCCTGTAGTCCCATCTACTCAGGAGGCAGAGGTGTAAGATCACTTGAGCCCAGGAGGTCGATGCTGCAATGAGCTGTGATTGTGCTACTGCATTCCAGCCTGGGCAACTCTGGCTCAAAAAAAAAAAAAAATATATATATATATACACACACACACACACACACACACACACACACACACACAATTACTTAGAACTAAGTTTTTAGATTATATTTCCTCAGAAATGCCAGGAAGAGGTAGGTGGAAGACAGAAAGACAAAACACTAGGGGACGGGTCGGGTGGAAGGGCACATTCTGGGTTCTGCTTTTTCAAGAAGGGTGGCTCTGAAATGATTTGCTTTACATATTAAGATTCTGAATATGATCCGTGGGATGGGGTGTGTATGTTGAAAACTGCTGCTCTGAATAATATGAGATAATATATAAAATACAAATCCCTAGGTTCTCTGGTTTTGACACTTAAATGCAATATTTAAAAGACTACATTGGTGATGCATCAGACATCTGTAATATCTGTAATATCAGGCAGGTATTAAAAAAAATCAAGTGTTTCCCAATCTTTTTTTTTTTTTTTTTTTTTTTTTAAGACAGGGTGTCACTTTGTTGCTCAGGCTGGAGTGCAGTGACACAATCACAGCTCACTGCAGCCTCAACGTCCCTGGGCTCAGGTGATCCTCCCACCTCAGCTTCCCGAGTAGCTGGGACTGCAGGTGTGCGCCACCATATGTGGCTAATTTTTGTATTTTTTTTAAAGATGGGGCTTCATCATTTTGACCAGGCTGGTCTCGAACTCCTAGCATCAGGCAATCCACCTGCCTTGACCTCCCAAAGTGCAAACATTATAGGCATGAGCCACTGCGCCCAGCCAATTTCTCAATCTTTATGAAGCACTTACACCTATCTTCAGAGCTATTTGCATGTAATATTGTTTACTTACTCTTTCTTTAAATTAACTCTTTTTTTACTGAGCCTCATTATTTCTCTAAAATCACAGATTTGATATGCTTATTGTATTTATACCTATGAGTATTGGAAAAGATATATTTACAAAATATAAATATTAATCTGTATAACACCCTAAATCATCTTTTGTACCACGAGCCATAGGCATTCTATAATTTGGGGAATATTGCTAATACATAATGGTTTAAACAGATGGTTAAAACCAAAAAGTAGCCTGGGCACAGTGGCTCATGCCTGTAATACAATCCCAGCCCTTTGGGAGGCTGAGGTGGGTGGATCATGCGGTCAGGAGTTGGAGACCAGCCTGACCAACATAGTGAAACCCCATCTCTACTAAAAATACAAAAATTAGCCAGGTGTGGTGGCAGGCGCTTGTAGTCCCAGCTACTCAGGAAAATCACTTGAACCCAGGAGGCGGAGGTTGCAGTGAGCCGAGACTATGCCATTGCACTCCAGCCTGTGTGACGGAGTGAGACTCCGTCTCAAAAAAAAAAAAAAAAAAAAGTAAATCATAGTCAAAATGGTTTCTACTCTGAGGATATACTTGGGTGATTTTATGAAAATAAATTAATACAAACAAGACTGGCTGGACGCGGTGGCTCACGCCTGTAATCCCAACACTTTGGGAGGCTGAGACAGGAGGATTGCTTGAACCTAGGATGGTGGAGGTTGCAGTGAGCTGAGAGTGCACCACACTGCACTCTAGCTTGGGCAACACAGCGAGACTCCATTTCAAAAAAAAAAACAAAAAACAAAAAAAAAACCAGAATTGGGTCCAGCCTAGAAAAGTAGCAAAATCAAACACTTTATCATGTTATGCAGTTTGCAGG
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Task1_train_895
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This sequence variant lies in STIL (STIL centriolar assembly protein) on Chromosome 1. Is it clinically significant, and what condition might it cause if any?
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Pathogenic; Myoepithelial tumor
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GTCTGGGCAATATAGGAAGACCTTTTCTCTAAAAAAAAAAGTAAAAATTTTAAAAAAAACTATACTTTACAATTTCAAAGAATTTACCTAGGTTTAAAAAAACAGCAGAGCTAAATTTTTCTCAGGTGTTCCTATCCAAAGCGTTTTCACTGATTTGAAAAATGTCATTGTCTTTTTTCTGATAAAATGCAAACACTATAACTCCAATTTTATAAAACAAAGATTTTTTAAAAAATCATATGTATGGCCGGGCGCGGAGGCTCACGCCTGTAATCCCAACACTTTGGGAGGCCGAGGTGGGAGGATCACAAGGTCAGGAGATCGAGACCATCCTGGCTAACATAGTGAAACTCCGTCTCTACTAAAAAAATACAAAAAATTAGCCGGGCATAGTCCCAGCTACTCCGGCGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGATCGTGGCACTGCACTCCAGCCTGGGCGACAGAGAAATACTCCGTCTCAAAAAAAAAAAAAAAAAATCATACGTATATATGCACATTACACATATATTTGCATAGTTATAGGATCATGAAAAATATTTAAAACTACATTTCAGGTTGTTCCCATTGGTGCTGGGGAGAAAGAGAGGAACACTGTTTTGGGGTAGGTATGTGGAGGAAGGACGTCAGTGAGGAAAGAAGAAAAAAGACAACACTTACACACTAAACACTGCGCAAGGATATAATTAAGACAAAGAACTCCGTCGAGACTATGCTGGCCAACATGGCGAAACCCCGTCTCTACTAAAAATACAAAAACTAGCCAGGCATGGTGGCGCGTGCCTGTAATCCCAGCTCCTAGCAGGGCTGAGGCAGGAAGATCACTTGAACTTGGGAGGCGGAGGTTGCAGTGAGCCAAGATCATGCCCCTGCACTCCAGCCTGCGCAACAGAAGAGACTCCGTCTCAAAAAAAAAAAAAAAAAACAACAAAAAACTAAGAACTCTGCAACAGAGGTTCTGAAAAAAGGGAACATTTCAGAAAACAAGAAGTAGAATAAGTCCAGTATAGATATGCAGAAAGGCTCTAACTATATAGATAGGCATTATATAGGGCTGACAAACTAGAGATGAAGTATAAGCCACTGTCCAGACTTTATATTTAGCTGTATATAAAGGCTTAGTTAATTATAACAGACTTTTCATTAGAGGCAAAAAATAAAAATACAATTCTATTGTAGGTTAGGATATGCATAAGATGGTTCTACTACTAACTAGCAACGTGGCATTGGGTTAAATTATTCTCTCTAATCCTCATTTTACTTACCTGTAAAACAAGAGGGCCTAGAATTCAGTTTCCAAGGTCCCTCCTAATTCTGACATTCTATACTTCTATAAAACATCATTACTGAGGAGAGGTGCCAGTTTTTAAGAAATCTTAATACCAAGAAATTAATAGAACTAGGAAAGCACCAAGCAAACCTGTGCCTGAAGTAGTCTTAGCTGTCTGTCTTGTTCTGTGAGGAACCGATATGCATCTGGAGATAGTCCCATCATTCCATTATCTGACTCAGTCTTGGGTGTGTGCATGCACACTGTGCAAGGCTGTGGGTTACATAAGTCCATATGTGAAGGCGGTCTTGCCACAGGCGATGGTTCAATATTGCTGTGGGGAGAACAACTGCCCATATCTCCCTGAGGTCTCAAGGCTATAGGACTACTTGAAGAACAGAATGCATTACAGTACAGGGCTGGACATCCACTTGGGTGAAATAATGAATGCTTTTGAAGGGCTTCAGACTGGACATCTTGAATGGATCCAACTGTGTTTGCTCCTTGCCAAGAATTTAGCGGACTATATTGAATATGACTATGATGCTGACAACACCTGCAAACGTTTGTGGAACAGTAAGATGGCAGTGGGGGAGTAGGTATCTGAAGTTCCATTGGTCTTCCTGAATTATGGGGTGAAAAAACAAAATCGTGTGGTTGGGACTGCGGGGCAAGAGAAGACTGCCTAGAATTAAGTGTGGAGGGTCTTATAGGATACTCTTCGTTTTGTACATTTCCAGCAGAAACTGTTTGGAGCTTTTCAAATATATCATGAGATGGCCCATTATGAGAAGATGGTTTAATACTGTTCCTGGTATGGGGGTTCCCTTTCTTATAGGCAGGTGGCTGTCTTACTTTGCAGTGTCTCAAAAGAGCTGGTTTATCCTGGTTTAACTGATTTGGTATTCCTCTCAAGGAAGGCTCTCCAGCTTCAACTTCTGGACTGTGTTTCTCATCATAAAGCTGGGGTTGCAATGGCTTCAAGTGTTCCAAGTGGTTAATCAAAGGAGGATTTTCATTATTCACCATTTCCAATGGAGTAGGCAGAGGGTTTGATTCTATGAAATTGCCATCCAACACAAGTGAAAGTTCAGGAACTGATGGTTGGATCTTAGAAATCTACAAATAAGAAAGAAATAGAAAAAAAAAGTATTTTTTTGGAGAAACTGTATACTTTACTTTCCTCAGACCAGTATTTCCCAAATTATATCTAATTACATATTAACAAGTGTTCATTCTTTATTTAGACCATCAGTTAATTTTTTCTGGGCATGTTTTATGTGCTAAGCACTAGGAATGCAATTGTAAGCTAAATAAACAAGGTCCTTGCCCTAAAAGAATAAAACTAAACACTTCCCAAACTTATTTAATAATGGAACTCTTTTTATTAAAACACTAACACTGCTAAGATCACAGAACACAATATGAGAAACTGTTTTATATAACTTTTTAAATCCTCTCTGCAAAAAATAAAATTGTCACAAGCAGAATGTTTTCACAGATCTAGTAGCAAATGTTTATGTACCTTAAATAGTAAAATCTTCCAATAAATGTTTCAAAATATTTCTCCACTAAGAAGTCACTCACTGTTATTCCTTCTATTGATATCAACTAAGAGGTGGAAAGCAAAAAAGAGTAAACAAAATACTCGCTGTGATGAATTTGGTTATAATTTGATATTAGCTTTAAAAAATCCTTCCCATTCCTTTTTCTTCTAAAATAAGAATTAAACAATTCTAAAATGACCCACAGGTTGGTAGCAATAAAAAAATTATGACAAGAATTTTAGCAATTAACCTCTGAAAGCAAGTATAATGTTTTCTCAGAATATAGTGATAAAAACCAATGTCAAGCTCTAGTGATAGTATATAATGTTGAGTCTATATGGTTATTAAAAGTACCAGATTCTAAAACCAAACCTCCTGAAATAGAATCCCAGCTTTACTACTTACTAGTTGTGTGTCTTGGGTAGGTAACTTAACCAATCTATGTCTCAGTTTACTCTAGGAATAACCATACATGCTTATTACATAGATATTACACATATGTATATATCATTACATATAATATGAATTATTATATATAACTGTGAAATACTTATATCTCTATATATAGATATAACCATAGAGATAGAAATAGCTAGATATATCTAAGAATGATACTTAGGTTTCAGGTAGTATTATTTAGTGTTTTAACCATGAAGAGACTTAGGTCTCTAACCACAAAAGTGAATGCATTTTAAAATCAGTGATACCTTCTGACTCACTGGATGAGGACTAGGAATTGGTCTTGGAGAAAAATCTTCATCTTCAACACCAGAGTCGTGATCATGTATTGGCATCTTCCCAGAAGATAACTTTTGGGAAGACCTAAAGAATAGAAGGGGAGACCAGAAAAGCCTTTGGTAATCCAGTGTTTTCTTTCTTCTAGAAATTGAATAAAGTCCTTTAATAAGTTGCAGTAGTACTCAGATCATTTAATTTAGTATCTGACAACCACAAATTATTTTATTTTTCAGGCCAGTGTTAGTTGACCAGGGAAGCTGGACCAGCCAGCCTTAATAAACTACCCTATTTACCTGATGATAGCAAGTTTAACCTTGTATTGTTAATGTCACAATAAATCAAGTCACTGGGCACCCTCTAGTTGATCACTTCGATAAATATAGAAACAAGTAAGACTTAGTACTTGCTGTCAAAAAATTTATAATCTAGTATTAAAGGTTATTAAACACACTATATTACAAACCCTCTGTATTAAAAAGGAAAACCAAATA
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GTCTGGGCAATATAGGAAGACCTTTTCTCTAAAAAAAAAAGTAAAAATTTTAAAAAAAACTATACTTTACAATTTCAAAGAATTTACCTAGGTTTAAAAAAACAGCAGAGCTAAATTTTTCTCAGGTGTTCCTATCCAAAGCGTTTTCACTGATTTGAAAAATGTCATTGTCTTTTTTCTGATAAAATGCAAACACTATAACTCCAATTTTATAAAACAAAGATTTTTTAAAAAATCATATGTATGGCCGGGCGCGGAGGCTCACGCCTGTAATCCCAACACTTTGGGAGGCCGAGGTGGGAGGATCACAAGGTCAGGAGATCGAGACCATCCTGGCTAACATAGTGAAACTCCGTCTCTACTAAAAAAATACAAAAAATTAGCCGGGCATAGTCCCAGCTACTCCGGCGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGATCGTGGCACTGCACTCCAGCCTGGGCGACAGAGAAATACTCCGTCTCAAAAAAAAAAAAAAAAAATCATACGTATATATGCACATTACACATATATTTGCATAGTTATAGGATCATGAAAAATATTTAAAACTACATTTCAGGTTGTTCCCATTGGTGCTGGGGAGAAAGAGAGGAACACTGTTTTGGGGTAGGTATGTGGAGGAAGGACGTCAGTGAGGAAAGAAGAAAAAAGACAACACTTACACACTAAACACTGCGCAAGGATATAATTAAGACAAAGAACTCCGTCGAGACTATGCTGGCCAACATGGCGAAACCCCGTCTCTACTAAAAATACAAAAACTAGCCAGGCATGGTGGCGCGTGCCTGTAATCCCAGCTCCTAGCAGGGCTGAGGCAGGAAGATCACTTGAACTTGGGAGGCGGAGGTTGCAGTGAGCCAAGATCATGCCCCTGCACTCCAGCCTGCGCAACAGAAGAGACTCCGTCTCAAAAAAAAAAAAAAAAAACAACAAAAAACTAAGAACTCTGCAACAGAGGTTCTGAAAAAAGGGAACATTTCAGAAAACAAGAAGTAGAATAAGTCCAGTATAGATATGCAGAAAGGCTCTAACTATATAGATAGGCATTATATAGGGCTGACAAACTAGAGATGAAGTATAAGCCACTGTCCAGACTTTATATTTAGCTGTATATAAAGGCTTAGTTAATTATAACAGACTTTTCATTAGAGGCAAAAAATAAAAATACAATTCTATTGTAGGTTAGGATATGCATAAGATGGTTCTACTACTAACTAGCAACGTGGCATTGGGTTAAATTATTCTCTCTAATCCTCATTTTACTTACCTGTAAAACAAGAGGGCCTAGAATTCAGTTTCCAAGGTCCCTCCTAATTCTGACATTCTATACTTCTATAAAACATCATTACTGAGGAGAGGTGCCAGTTTTTAAGAAATCTTAATACCAAGAAATTAATAGAACTAGGAAAGCACCAAGCAAACCTGTGCCTGAAGTAGTCTTAGCTGTCTGTCTTGTTCTGTGAGGAACCGATATGCATCTGGAGATAGTCCCATCATTCCATTATCTGACTCAGTCTTGGGTGTGTGCATGCACACTGTGCAAGGCTGTGGGTTACATAAGTCCATATGTGAAGGCGGTCTTGCCACAGGCGATGGTTCAATATTGCTGTGGGGAGAACAACTGCCCATATCTCCCTGAGGTCTCAAGGCTATAGGACTACTTGAAGAACAGAATGCATTACAGTACAGGGCTGGACATCCACTTGGGTGAAATAATGAATGCTTTTGAAGGGCTTCAGACTGGACATCTTGAATGGATCCAACTGTGTTTGCTCCTTGCCAAGAATTTAGCGGACTATATTGAATATGACTATGATGCTGACAACACCTGCAAACGTTTGTGGAACAGTAAGATGGCAGTGGGGGAGTAGGTATCTGAAGTTCCATTGGTCTTCCTGAATTATGGGGTGAAAAAACAAAATCGTGTGGTTGGGACTGCGGGGCAAGAGAAGACTGCCTAGAATTAAGTGTGGAGGGTCTTATAGGATACTCTTCGTTTTTTACATTTCCAGCAGAAACTGTTTGGAGCTTTTCAAATATATCATGAGATGGCCCATTATGAGAAGATGGTTTAATACTGTTCCTGGTATGGGGGTTCCCTTTCTTATAGGCAGGTGGCTGTCTTACTTTGCAGTGTCTCAAAAGAGCTGGTTTATCCTGGTTTAACTGATTTGGTATTCCTCTCAAGGAAGGCTCTCCAGCTTCAACTTCTGGACTGTGTTTCTCATCATAAAGCTGGGGTTGCAATGGCTTCAAGTGTTCCAAGTGGTTAATCAAAGGAGGATTTTCATTATTCACCATTTCCAATGGAGTAGGCAGAGGGTTTGATTCTATGAAATTGCCATCCAACACAAGTGAAAGTTCAGGAACTGATGGTTGGATCTTAGAAATCTACAAATAAGAAAGAAATAGAAAAAAAAAGTATTTTTTTGGAGAAACTGTATACTTTACTTTCCTCAGACCAGTATTTCCCAAATTATATCTAATTACATATTAACAAGTGTTCATTCTTTATTTAGACCATCAGTTAATTTTTTCTGGGCATGTTTTATGTGCTAAGCACTAGGAATGCAATTGTAAGCTAAATAAACAAGGTCCTTGCCCTAAAAGAATAAAACTAAACACTTCCCAAACTTATTTAATAATGGAACTCTTTTTATTAAAACACTAACACTGCTAAGATCACAGAACACAATATGAGAAACTGTTTTATATAACTTTTTAAATCCTCTCTGCAAAAAATAAAATTGTCACAAGCAGAATGTTTTCACAGATCTAGTAGCAAATGTTTATGTACCTTAAATAGTAAAATCTTCCAATAAATGTTTCAAAATATTTCTCCACTAAGAAGTCACTCACTGTTATTCCTTCTATTGATATCAACTAAGAGGTGGAAAGCAAAAAAGAGTAAACAAAATACTCGCTGTGATGAATTTGGTTATAATTTGATATTAGCTTTAAAAAATCCTTCCCATTCCTTTTTCTTCTAAAATAAGAATTAAACAATTCTAAAATGACCCACAGGTTGGTAGCAATAAAAAAATTATGACAAGAATTTTAGCAATTAACCTCTGAAAGCAAGTATAATGTTTTCTCAGAATATAGTGATAAAAACCAATGTCAAGCTCTAGTGATAGTATATAATGTTGAGTCTATATGGTTATTAAAAGTACCAGATTCTAAAACCAAACCTCCTGAAATAGAATCCCAGCTTTACTACTTACTAGTTGTGTGTCTTGGGTAGGTAACTTAACCAATCTATGTCTCAGTTTACTCTAGGAATAACCATACATGCTTATTACATAGATATTACACATATGTATATATCATTACATATAATATGAATTATTATATATAACTGTGAAATACTTATATCTCTATATATAGATATAACCATAGAGATAGAAATAGCTAGATATATCTAAGAATGATACTTAGGTTTCAGGTAGTATTATTTAGTGTTTTAACCATGAAGAGACTTAGGTCTCTAACCACAAAAGTGAATGCATTTTAAAATCAGTGATACCTTCTGACTCACTGGATGAGGACTAGGAATTGGTCTTGGAGAAAAATCTTCATCTTCAACACCAGAGTCGTGATCATGTATTGGCATCTTCCCAGAAGATAACTTTTGGGAAGACCTAAAGAATAGAAGGGGAGACCAGAAAAGCCTTTGGTAATCCAGTGTTTTCTTTCTTCTAGAAATTGAATAAAGTCCTTTAATAAGTTGCAGTAGTACTCAGATCATTTAATTTAGTATCTGACAACCACAAATTATTTTATTTTTCAGGCCAGTGTTAGTTGACCAGGGAAGCTGGACCAGCCAGCCTTAATAAACTACCCTATTTACCTGATGATAGCAAGTTTAACCTTGTATTGTTAATGTCACAATAAATCAAGTCACTGGGCACCCTCTAGTTGATCACTTCGATAAATATAGAAACAAGTAAGACTTAGTACTTGCTGTCAAAAAATTTATAATCTAGTATTAAAGGTTATTAAACACACTATATTACAAACCCTCTGTATTAAAAAGGAAAACCAAATA
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Task1_train_896
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A genomic change on Chromosome 1 affects FOXE3, LINC01389 (forkhead box E3| long intergenic non-protein coding RNA 1389). Classify this variant as benign or pathogenic, and name the disease if relevant.
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Pathogenic; Cataract 34 multiple types
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ATTATTTCTAATGTCTCAGCTCAGCCTTAAAGGATGGCATTCTTAGAAGAGTGGGGTGCTAGAGCTTTGAACTTCACATTTAATTCCAGCTCTACCACTTACTACTAGCTGTGTGAAGTCAGGGAAACCACTTAACCTCTCAGAACCTTAGTTTCCTCATTTGCAAAACAGGAATAATAACAGTACTCACTTCACGGGGTGCCCAAACTTAAGTGCAATAATGTACATAAAGTGTTTACCAAATACAAAATGCTCAGTAATGGTGGCTGTGATGTCATCAGCTGAGACTGGAGCTGAGAGAGGGGCCCTTGAGCTCCATGCTTTGAGTTTGGATTTTGAACTGGATTTTGAGTTTGGAGTTTACAGGCCTGCTGTAACTAGCTTTGGTCACCTATACCTAGGGACACTCTATAGCATGGCTGGGGGACTAGGATGGGGCAAGTGAGATGCCCCAAATGTAAGGAGGCCCTGGCTCTCAAGTGCTGACTGCACTTGCAAGGCCCTGAGACTGAGCTCCCCTTAAACTCAGCACCTCAGGCACCTCAGTGGGCTCACTGTCCTTCCAGCCCTGCTCCATGTCCAAGTCCCTTGATCTGCCTGTCCCCAGGACAACCCACTTTAAGACAAGGCTCCTTCACCCTGTAGTTCCCTTGGAGCTGGGGATGGGTCTCCTGTCTCTTGGGAGAAGAAGTTTCCCAAAATAGGCTGGGTGCTGCATCCCCCTGGATGCCAGTTGTGGGTGGAACTTCTCAGACTGAGTTTTTAACAAACACTGCCAAAGACCCCCCATCCCCAGTGAGATGTGAGTGTGGTGTTTCTGGGTCAGAAGGCGGCTTTTTCAGACCCCCAGTCTGTGGAAGCCTACATTTTGTACTGTGTGTGTGGGTGTATGTGTGTGTGTGTGTATGTGAAGAAAAGCTGTTTTCTTTAACAGGGGGGTGTGGAGAGGAGGCAGCCAGAAAGGCAGCTCCAAGTTGTGGATTTCCTGGGGGCTCTTCATTTAAAGCGGCCGCACCACTTTCCACAATTCTGTTTTTTCAGAGAATGCTCTCAAGGCCTGGAGGGAGGGCATGACAGGGGTATGGGGGAGGGGGGTGGCAGAGAGGCAAGATGGTGACCCTGATCTGGAGCAGTCAAACATTCTCCCAGAGACAAAACCGGCCTGGCTCTGCCCTGCCCCGCTGCTTCATTACCTTGGCCCAGGTTCCCTAATGTCTGTGAGTGGGCCTGACACCTCCCCATCAGGATACTGAGGGCTGGCAAGGCGGCCTTCATCTCTGTTCCAGCTGGGGATGGAAGGCCAGGAGAAGGATGGGGGGACCGACTACTGGGAGGAGCAAAATGGGGAGGAGCAAAATGGGGAGGGGGCTGGGAGAGTGAATGGGTGGATTTGTGATTGGGAATGATCCAAAGGAGAGGGGGTAGAAGGAGGGGTGGAAAGGGAAGGGGACTGACCAAATACAGTGGGATGGGGCCAGGGGCTGATATAACCGAGATGGGGAAGGGGTGAGTCTGGGTCTGGGAAAAACTGATCCAAAGGCAGAAAGGGAGGGGCGAAATGGAGGAGGGTACCGTGAACAGAGTAAGGGGGCTGGGAGAGGAAATTAGAGGGGAGGCGCTGGCCAGCAGGCAAGGCCTGAGCCCTCTCCCCCGGCGGTGGTTGGGGGGGGGCCGTGTCCATATAAAGCGGGTCGGCGGCCCCTGCGGTCCCGGAGCCGCGCGGGCAGGGGCTGCCGCAGCCGATGGCGGGGCGCAGCGACATGGATCCGCCCGCCGCGTTCTCTGGCTTCCCTGCCCTGCCAGCGGTCGCGCCGTCGGGGCCGCCGCCGTCGCCGCTCGCAGGAGCCGAGCCAGGGCGGGAGCCAGAGGAGGCGGCGGCTGGCCGCGGAGAGGCGGCCCCCACGCCCGCGCCCGGCCCGGGGCGGCGGCGGCGGCGGCCCCTGCAGCGCGGGAAGCCGCCCTACTCGTACATCGCGCTCATCGCCATGGCTCTGGCGCACGCCCCGGGCCGCCGCCTCACGCTGGCCGCCATCTACCGCTTCATCACCGAACGCTTTGCCTTCTACCGCGACAGCCCGCGCAAGTGGCAGAACAGCATCCGCCACAATCTCACGCTCAACGACTGCTTCGTCAAGGTGCCCCGCGAGCCGGGCAACCCGGGCAAGGGCAACTACTGGACGCTGGACCCCGCGGCCGCAGACATGTTCGACAACGGCAGCTTCCTGCGGCGCCGCAAGCGCTTCAAGCGCGCCGAGCTGCCCGCGCACGCGGCCGCGGCGCCAGGGCCGCCGCTCCCCTTCCCCTACGCGCCCTACGCGCCCGCGCCCGGCCCCGCGCTGCTGGTGCCGCCGCCTTCTGCCGGACCGGGCCCCTCGCCGCCCGCGCGTCTGTTCAGCGTCGACAGCCTGGTGAACCTGCAGCCGGAGCTAGCGGGGCTGGGCGCCCCCGAGCCGCCCTGCTGCGCCGCGCCCGACGCCGCAGCCGCAGCCTTCCCGCCCTGCGCTGCCGCCGCCTCCCCGCCACTCTACTCGCAGGTCCCCGACCGCCTGGTACTGCCCGCGACGCGCCCCGGCCCCGGCCCGCTGCCCGCTGAGCCCCTCCTGGCCTTGGCCGGGCCGGCAGCCGCTCTCGGCCCGCTCAGCCCTGGGGAGGCCTACCTGAGGCAGCCGGGCTTCGCGTCGGGGCTGGAGCGCTACCTGTGAGCCTGCGCCGCGCGGGCAGGCACCTGTGCGACCTGTGCCCCGGACCTGCGGCGCCGCCCTCGAGCGCCCCATCTCTACCCCCCACCCTGGCTTGGAGCACACCCTGCGCCTCTCGTCGTGGCCTCCTGGACTCAAACTCCTGCTACATCCTTCTCCGTCCCCCATCCCTGGGGAGGCTCCCACCATCTCGCCACTGGACAGAAGCGTCCCCTTTGACCTGCCAGCCTCTCATTTCTTCTCCCTCCACTTGTGAGCGCCCCCAGCTTTGCGGCGCCCCCCACCCCAGCGCTGTCTGTGGGTCCCTTGCCCCGGAGCTGACTCGCCTCCAGTGAGTCCATACCCCAGGTTTCCTGGTGAGTTCCAAGCCTTTGGAAGCCAGATCTGTGATCCCAAGCCGCCTCCTCCACCGACTGTACTTCATCAACCTTCTCTCATGTTTTTCCGACACTCCTGGGTCAGACTCCTGGGTTCATGACTTACTTGCTAGCGTCCCTTCATTTTCCCACAAGTTTGCCCCCCACCTCCACTTACCTGTCTGCCCTCAGCTTCTTCCTGGGAGAGAGCCCCCCTTTCACGTAGACACACCTGGCTGCCTTCTTCACGCCCTGAGGACACTTCTTGGAGATTTCAGACAGGCAGCACCAGGGCTCCTGACTGAAAGGGGAGTTGGTGGGCCTTTAGGTCTGCCCCATCCCCTGGAAAACTTAGGACTTATTGGGTTATTATTATTTTTAATTAAAGCTGGTTTAATTAAAAAGAAAGAAACTTTTTTCTGGACTTGGTGTGCTGGCTGGTGACTTGGGGGAGTGGTCTGGGGAGACGGGTGAGCTTTATTCTAGATCTTGGGTTGCCACATGGGGTGAACCTCCTTGTGAGACATCAATCAGAAGTTCATGAAATGGGATTAGGAAGTGATTCTCCAGCAGGATTAGTGGCTAACACAATTTTGTTTTAAAAAGGAAGTGATTCAGCCATAGCTGTGCACATAGTAGGCCTAGTCAAATGCCATCTCCTGCATCTCAGCCTGGTAGAGACGAGATGGGCTGGGCATGTGTGTGTACACACTTGTGTGAATGTATCTGAGCAGCAGGTTGTCTGCTCTCTGGGATTATTCCCAGCTCCCATGGATAAAGGAGCACTGGCCGTTGATTCACTCCTCCAGTTAGTTAATGTGCTGAGCCTGTGCTAGACACTGGGGAAATATTACTGAATGAATGGGCAAAATCCCTGCCTCATGGAGGTTGTGGGCCAGTGGGAAGAGTCATTAATCCAACCATCAACGCTCAGAGAAATAAGATAAGTGCTCTACAGCCTTGCACTCAAAGTGTGGTCCACAGACCTACAACATCACCTGGGAGCTTGTTAGAAATGCAGAATCTGGCAGGACGTGCTGG
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ATTATTTCTAATGTCTCAGCTCAGCCTTAAAGGATGGCATTCTTAGAAGAGTGGGGTGCTAGAGCTTTGAACTTCACATTTAATTCCAGCTCTACCACTTACTACTAGCTGTGTGAAGTCAGGGAAACCACTTAACCTCTCAGAACCTTAGTTTCCTCATTTGCAAAACAGGAATAATAACAGTACTCACTTCACGGGGTGCCCAAACTTAAGTGCAATAATGTACATAAAGTGTTTACCAAATACAAAATGCTCAGTAATGGTGGCTGTGATGTCATCAGCTGAGACTGGAGCTGAGAGAGGGGCCCTTGAGCTCCATGCTTTGAGTTTGGATTTTGAACTGGATTTTGAGTTTGGAGTTTACAGGCCTGCTGTAACTAGCTTTGGTCACCTATACCTAGGGACACTCTATAGCATGGCTGGGGGACTAGGATGGGGCAAGTGAGATGCCCCAAATGTAAGGAGGCCCTGGCTCTCAAGTGCTGACTGCACTTGCAAGGCCCTGAGACTGAGCTCCCCTTAAACTCAGCACCTCAGGCACCTCAGTGGGCTCACTGTCCTTCCAGCCCTGCTCCATGTCCAAGTCCCTTGATCTGCCTGTCCCCAGGACAACCCACTTTAAGACAAGGCTCCTTCACCCTGTAGTTCCCTTGGAGCTGGGGATGGGTCTCCTGTCTCTTGGGAGAAGAAGTTTCCCAAAATAGGCTGGGTGCTGCATCCCCCTGGATGCCAGTTGTGGGTGGAACTTCTCAGACTGAGTTTTTAACAAACACTGCCAAAGACCCCCCATCCCCAGTGAGATGTGAGTGTGGTGTTTCTGGGTCAGAAGGCGGCTTTTTCAGACCCCCAGTCTGTGGAAGCCTACATTTTGTACTGTGTGTGTGGGTGTATGTGTGTGTGTGTGTATGTGAAGAAAAGCTGTTTTCTTTAACAGGGGGGTGTGGAGAGGAGGCAGCCAGAAAGGCAGCTCCAAGTTGTGGATTTCCTGGGGGCTCTTCATTTAAAGCGGCCGCACCACTTTCCACAATTCTGTTTTTTCAGAGAATGCTCTCAAGGCCTGGAGGGAGGGCATGACAGGGGTATGGGGGAGGGGGGTGGCAGAGAGGCAAGATGGTGACCCTGATCTGGAGCAGTCAAACATTCTCCCAGAGACAAAACCGGCCTGGCTCTGCCCTGCCCCGCTGCTTCATTACCTTGGCCCAGGTTCCCTAATGTCTGTGAGTGGGCCTGACACCTCCCCATCAGGATACTGAGGGCTGGCAAGGCGGCCTTCATCTCTGTTCCAGCTGGGGATGGAAGGCCAGGAGAAGGATGGGGGGACCGACTACTGGGAGGAGCAAAATGGGGAGGAGCAAAATGGGGAGGGGGCTGGGAGAGTGAATGGGTGGATTTGTGATTGGGAATGATCCAAAGGAGAGGGGGTAGAAGGAGGGGTGGAAAGGGAAGGGGACTGACCAAATACAGTGGGATGGGGCCAGGGGCTGATATAACCGAGATGGGGAAGGGGTGAGTCTGGGTCTGGGAAAAACTGATCCAAAGGCAGAAAGGGAGGGGCGAAATGGAGGAGGGTACCGTGAACAGAGTAAGGGGGCTGGGAGAGGAAATTAGAGGGGAGGCGCTGGCCAGCAGGCAAGGCCTGAGCCCTCTCCCCCGGCGGTGGTTGGGGGGGGGCCGTGTCCATATAAAGCGGGTCGGCGGCCCCTGCGGTCCCGGAGCCGCGCGGGCAGGGGCTGCCGCAGCCGATGGCGGGGCGCAGCGACATGGATCCGCCCGCCGCGTTCTCTGGCTTCCCTGCCCTGCCAGCGGTCGCGCCGTCGGGGCCGCCGCCGTCGCCGCTCGCAGGAGCCGAGCCAGGGCGGGAGCCAGAGGAGGCGGCGGCTGGCCGCGGAGAGGCGGCCCCCACGCCCGCGCCCGGCCCGGGGCGGCGGCGGCGGCGGCCCCTGCAGCGCGGGAAGCCGCCCTACTCGTACATCGCGCTCATCGCCATGGCTCTGGCGCACGCCCCGGGCCGCCGCCTCACGCTGGCCGCCATCTACCGCTTCATCACCAAACGCTTTGCCTTCTACCGCGACAGCCCGCGCAAGTGGCAGAACAGCATCCGCCACAATCTCACGCTCAACGACTGCTTCGTCAAGGTGCCCCGCGAGCCGGGCAACCCGGGCAAGGGCAACTACTGGACGCTGGACCCCGCGGCCGCAGACATGTTCGACAACGGCAGCTTCCTGCGGCGCCGCAAGCGCTTCAAGCGCGCCGAGCTGCCCGCGCACGCGGCCGCGGCGCCAGGGCCGCCGCTCCCCTTCCCCTACGCGCCCTACGCGCCCGCGCCCGGCCCCGCGCTGCTGGTGCCGCCGCCTTCTGCCGGACCGGGCCCCTCGCCGCCCGCGCGTCTGTTCAGCGTCGACAGCCTGGTGAACCTGCAGCCGGAGCTAGCGGGGCTGGGCGCCCCCGAGCCGCCCTGCTGCGCCGCGCCCGACGCCGCAGCCGCAGCCTTCCCGCCCTGCGCTGCCGCCGCCTCCCCGCCACTCTACTCGCAGGTCCCCGACCGCCTGGTACTGCCCGCGACGCGCCCCGGCCCCGGCCCGCTGCCCGCTGAGCCCCTCCTGGCCTTGGCCGGGCCGGCAGCCGCTCTCGGCCCGCTCAGCCCTGGGGAGGCCTACCTGAGGCAGCCGGGCTTCGCGTCGGGGCTGGAGCGCTACCTGTGAGCCTGCGCCGCGCGGGCAGGCACCTGTGCGACCTGTGCCCCGGACCTGCGGCGCCGCCCTCGAGCGCCCCATCTCTACCCCCCACCCTGGCTTGGAGCACACCCTGCGCCTCTCGTCGTGGCCTCCTGGACTCAAACTCCTGCTACATCCTTCTCCGTCCCCCATCCCTGGGGAGGCTCCCACCATCTCGCCACTGGACAGAAGCGTCCCCTTTGACCTGCCAGCCTCTCATTTCTTCTCCCTCCACTTGTGAGCGCCCCCAGCTTTGCGGCGCCCCCCACCCCAGCGCTGTCTGTGGGTCCCTTGCCCCGGAGCTGACTCGCCTCCAGTGAGTCCATACCCCAGGTTTCCTGGTGAGTTCCAAGCCTTTGGAAGCCAGATCTGTGATCCCAAGCCGCCTCCTCCACCGACTGTACTTCATCAACCTTCTCTCATGTTTTTCCGACACTCCTGGGTCAGACTCCTGGGTTCATGACTTACTTGCTAGCGTCCCTTCATTTTCCCACAAGTTTGCCCCCCACCTCCACTTACCTGTCTGCCCTCAGCTTCTTCCTGGGAGAGAGCCCCCCTTTCACGTAGACACACCTGGCTGCCTTCTTCACGCCCTGAGGACACTTCTTGGAGATTTCAGACAGGCAGCACCAGGGCTCCTGACTGAAAGGGGAGTTGGTGGGCCTTTAGGTCTGCCCCATCCCCTGGAAAACTTAGGACTTATTGGGTTATTATTATTTTTAATTAAAGCTGGTTTAATTAAAAAGAAAGAAACTTTTTTCTGGACTTGGTGTGCTGGCTGGTGACTTGGGGGAGTGGTCTGGGGAGACGGGTGAGCTTTATTCTAGATCTTGGGTTGCCACATGGGGTGAACCTCCTTGTGAGACATCAATCAGAAGTTCATGAAATGGGATTAGGAAGTGATTCTCCAGCAGGATTAGTGGCTAACACAATTTTGTTTTAAAAAGGAAGTGATTCAGCCATAGCTGTGCACATAGTAGGCCTAGTCAAATGCCATCTCCTGCATCTCAGCCTGGTAGAGACGAGATGGGCTGGGCATGTGTGTGTACACACTTGTGTGAATGTATCTGAGCAGCAGGTTGTCTGCTCTCTGGGATTATTCCCAGCTCCCATGGATAAAGGAGCACTGGCCGTTGATTCACTCCTCCAGTTAGTTAATGTGCTGAGCCTGTGCTAGACACTGGGGAAATATTACTGAATGAATGGGCAAAATCCCTGCCTCATGGAGGTTGTGGGCCAGTGGGAAGAGTCATTAATCCAACCATCAACGCTCAGAGAAATAAGATAAGTGCTCTACAGCCTTGCACTCAAAGTGTGGTCCACAGACCTACAACATCACCTGGGAGCTTGTTAGAAATGCAGAATCTGGCAGGACGTGCTGG
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Task1_train_897
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This variant affects gene ORC1 (origin recognition complex subunit 1) located on Chromosome 1. Evaluate its biological effect and specify any disease association.
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Pathogenic; Meier-Gorlin syndrome 1
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GATATTTTTACACGACTTTCTAAATTTCTCTCCAACCTCAGAGCACCAGCATAGGGCCTCATACCCAGCAGGTACTCAGCAAAGATGTGCTGACTGATTTATGGGTGCAGCTGGTGACTTACCTTCCTGGCTACCAGCTGGATGGCATCATCTTCAAAGGCCTTTAGATGCTTGAGCCGGGACCTTAGGATCTGCTGCAGCTGGCTATATGTATAGGGCTGGAAGCACATCCTGGTAAGACCCTGGGGAGCCAAAATGACAGAGGAATAAGTTGGTTGACTGCCCAGTGATTATCCAGGTGGAAAGTCACCCTTGGGCCCCCAAACCCAATTCCCAGGTCCCATATAACAAATTACACATTTCATACCTAGACTACCACTGCCTTTACTGACAATGACCAGTGGTGTCCTGTAGGGCAGTAGTTTTTGAACTATTTTTTCATTTCATTTAAGGACCTTTGATTCTTTTTTTTTCTTTGAGACGGAGTCTTGCTCTGTTGCCCAGGCTACCGTGCAGTGGCATGATCTCGGCTCACTGCAAGCTCCGCCTCCTGGGTTCACGTCATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGACTACTGGTGCCCACCACCACGCCCAGCTAATTTTTTTGTATTTTTAGTAGGGACAGAGTTTCACCGTGTTAGCCAGGATGGTCTCGATCTCCTGACCTCGGGATCCACCTGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCAACCACGCCCGGCCTAAACTGGGATTATAGGCATGAGCCACCACGCCCGGCCTAAGGACCTTTGATTCTATCAGAATCATTTGGAAGTAGATAAAAGCTGAGGTGCTTTAATTGAAGTGGGTGAGAGGATCTTCAGATCTATGCTATACATTGTCACTGCACTTGGCTTCACTTACCAGGCTCTTCATGATTTCTCATTGCGCTTCCTGCTGAACTGCAAGGCCTGTGAGGGCAGACATTGCATCTGCCTGGTTTATTGCATTATTCCAAGCACCTAACACTGCCTGGCAGGTTATAAGTGCTAAAACTTTTTTTTTTTTTTTTTTTTTTTTGAGACAGAGTTTCACACTTGTTGCCCAGGCTGGAGTGCAGTGGCGTGATCCTGGCTCACCGCAACCTCCGCCTCCCGGGTTCAAGAGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGATTACAGGCATGCGTCACCACACCTGGCTAATTTTTGTCTGTTTAGTAGAGATGGGGTTTCTCCATGTTGGTCAGGCTGGTCTCGAACTCCTGACCTCAGGTGATCCACCTGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACTGTGCCCAGCCTAAAACATTTTTTTTTTAAATAATTAAACCTCCATGGTTTGGTGCAGTTTAAAAGTCCACGAGCAGCAGAACACCAAGATATGATGTTTGCAGAAAATCATGCAATGGTTACATATTCCAACATAGAAACTACAAGCATTGCAGAAATCACATTTCTTAACATCCCAATTTATTTTAGTATTCATTTTTGCAGAACTTTTTTTTTTTTGGGATGGACTCTTGCTTCGTTGCCAGACTGGAGTGCAGTGGCACGATCTCAACTCAATGCAAACTCTGCCTCCGGAGTTCAAGCAATTCTCCTGCCTCAGCTTCCTAAGTAAAAATTAGCCTGGCTAATTTTTGTATTTTTAGTAGAGACGGGGTTTCACTGTGTTGGCCAGGCTGGTCTTGAACTCCTGACCTCAAGTGATCCGCCCGCCTTGGCCTCCCAAAGTGCGGGGTTTACAGGCGTGAGCCACCACACCTGGACCATTTTTGCAGAACTTCTTGGCCAAGCTTACAGATCTGCAAGAACAGCATGGGAACTGCCCTAGAACCTACCAGTCGGCTGGACACCCGGTTCATCATGATTCGCTCTGGCAGGTCCATTGTGTTGGCAATTGCCAGGACCACAAGCCGGGCCTCCTTATGAGTGGGCCAGTCAAAGAGATTGTACATTATGTCTTGTTTGTGAGTCCACAGAAGGTCGAGCTGCCAGGGCAAAGGAGAGAGGTGCAGAGTCAATCACAGAGACTGAGCTGGTGCTTCAAAATGAAGACCTATAACCACTGCTTTAGCTGCATGTTTCCCAAGTCATAGCACCAAAACAATCCATTGACACACGCCTCTCAGCACCAGAAAATGGGCTCATATGAATGGAGAAGGGAGCCAGGACTTTCCTCCCTCCCATCCAGCACTTGCTCCTGAGGTACAGCCCTGTTTCTTCTCCTGTCCGCCCATGGGCACCTCACCTCATCCACAAGCAGGACGGTGGTTTCCTGAGGTGACCCTCGGGTGCAGAATTGCTTTGCCAGCAGTTCTGCCGCATGGTTGGCTGTTGCTTTTTGGCCTGTTAGCTTCTGCATTAGGAGAAACACAGTTGTGAGGAACTGTAAGGGTCTTACTCCCTTGGGCTTAAAGTTAAATCTGCAAATGGAGGGAGGCATTTAACCTGAGGACTTCGGTATCCTATATTCTGCCTCCCAATCTAGTCTTAACCTTTACTTGGAAGGACAAGAGAAGGCACCGAAAGAGAAGATAAAGAAGGTATATGAGTTTGAAATGCAAATGAGTCACAGGCTGGGCCAGAAGCCCCCTTAAAATCACTATTACAGAATTCTATAACTGGATGTTACCTGCTCCAAAATAACAGCCCATGGACAAAGAGCAAGGCTTAACCTCTGGCCTGCCACGGACCCCTTTTCCATGTTGCCACACTGCTACCTGTAAGCTCACAGTTTTCACCATGTGGGTAAGTACTGGCTTCCTGGCTTGTAATCATTATCCAGCTCCTAGACTTTGAAGTCTCTTAGGGTAAGAATTCTGTCTTCCTTGCCCTTGCTACCTCTACAGAAAGGACAATGCCTGGTATATCATGAACATGCAATACACGCAAAATTAAGTAACTCTTTCCTTTTTCATGTGTCACGAAGAAACAGCATTTTCCAAAAAGCCTAAACAGCTCTGCTTACCTGCAAGATTTGCACATAGACTTGGTGGGGCTCCGTCAGCTTCATGCCATTGACCTCAATGTATTGAAAGGGAGGAACATCATTGGCTTGGGCTGCCTGCTGCAGGCAGCGTATCACTTCATGAACAGTGGCAGTCTTCCCTGTCCCAGGGACACCGGAGATGTACATGCACCTAGAGCAAGAGAGGAAAACCCGTGGGGTAGGTCTCAGCCAGCCACTACACGTTATAATCAGTTAGGAGTGTGGGAATGTATACTGAGGGAAGGACCGAGACCCTTGAAATGTGGAGGTGGGGGCAGTAGGGACCATCCTTGGAAGCTGGTCAGAGTAGGACCTGCTTATATAGAATCATTCATTCCACAGTTTGCATAATGCTATATGCAAACTGCCTACTCAATGAAGGCCAGTTTCATTCTTTCTGAAAGGCAAAATTTCTGTTACTATAGGATTACTTTGGCAACAAATGTTTCAGAAGCTTTGGGCTTCAGCAACGATTTGGTCTAGTCTGCTGATACTGGAGAAAGCCTGTATGGCTGAACTGTAACACCCAAGGCATTCCACTAGCAGGGGCCTTATTCCCCAAACTACCCTGCCTGCCTCACATGACTCACCCTCCGGTATGGTCAAGGAGTTTGCTTTCCACAAAATTGTAGATGTCTTGGAATTCCTGTTCCCGACAGGGAAGAGACTCAGGTACAGCAGAAACATGCAGCCTACCATTGGTGGTAAACGGGAGAAAAGGAAGACTTTAGGAACATTCCCCAACCATCTACTCATTAATCAATGGAAAATGATTATGGTTTCTTGTCTATGTTTCTACCTGAAAACTCAATTTCAAATGCTAGAGAATCCCTTCATTCTCAAATCCCTCCATTTGGCCTCATAATCCTTGGCCTCCGTTTCTCCACCCAAATCACATGGGTGGACCTCATCCCACAGGAGATTCAGATTTTGCTTGATTTCTGACAGGATCCAGACTTATATGAAAGTCTCCATATGGTTCTAAAGGGCATCAAAACAAAGAGGCACTGTCCTGACTAATCATCTTCCATCCCTGCGGAAATGA
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GATATTTTTACACGACTTTCTAAATTTCTCTCCAACCTCAGAGCACCAGCATAGGGCCTCATACCCAGCAGGTACTCAGCAAAGATGTGCTGACTGATTTATGGGTGCAGCTGGTGACTTACCTTCCTGGCTACCAGCTGGATGGCATCATCTTCAAAGGCCTTTAGATGCTTGAGCCGGGACCTTAGGATCTGCTGCAGCTGGCTATATGTATAGGGCTGGAAGCACATCCTGGTAAGACCCTGGGGAGCCAAAATGACAGAGGAATAAGTTGGTTGACTGCCCAGTGATTATCCAGGTGGAAAGTCACCCTTGGGCCCCCAAACCCAATTCCCAGGTCCCATATAACAAATTACACATTTCATACCTAGACTACCACTGCCTTTACTGACAATGACCAGTGGTGTCCTGTAGGGCAGTAGTTTTTGAACTATTTTTTCATTTCATTTAAGGACCTTTGATTCTTTTTTTTTCTTTGAGACGGAGTCTTGCTCTGTTGCCCAGGCTACCGTGCAGTGGCATGATCTCGGCTCACTGCAAGCTCCGCCTCCTGGGTTCACGTCATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGACTACTGGTGCCCACCACCACGCCCAGCTAATTTTTTTGTATTTTTAGTAGGGACAGAGTTTCACCGTGTTAGCCAGGATGGTCTCGATCTCCTGACCTCGGGATCCACCTGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCAACCACGCCCGGCCTAAACTGGGATTATAGGCATGAGCCACCACGCCCGGCCTAAGGACCTTTGATTCTATCAGAATCATTTGGAAGTAGATAAAAGCTGAGGTGCTTTAATTGAAGTGGGTGAGAGGATCTTCAGATCTATGCTATACATTGTCACTGCACTTGGCTTCACTTACCAGGCTCTTCATGATTTCTCATTGCGCTTCCTGCTGAACTGCAAGGCCTGTGAGGGCAGACATTGCATCTGCCTGGTTTATTGCATTATTCCAAGCACCTAACACTGCCTGGCAGGTTATAAGTGCTAAAACTTTTTTTTTTTTTTTTTTTTTTTTGAGACAGAGTTTCACACTTGTTGCCCAGGCTGGAGTGCAGTGGCGTGATCCTGGCTCACCGCAACCTCCGCCTCCCGGGTTCAAGAGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGATTACAGGCATGCGTCACCACACCTGGCTAATTTTTGTCTGTTTAGTAGAGATGGGGTTTCTCCATGTTGGTCAGGCTGGTCTCGAACTCCTGACCTCAGGTGATCCACCTGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACTGTGCCCAGCCTAAAACATTTTTTTTTTAAATAATTAAACCTCCATGGTTTGGTGCAGTTTAAAAGTCCACGAGCAGCAGAACACCAAGATATGATGTTTGCAGAAAATCATGCAATGGTTACATATTCCAACATAGAAACTACAAGCATTGCAGAAATCACATTTCTTAACATCCCAATTTATTTTAGTATTCATTTTTGCAGAACTTTTTTTTTTTTGGGATGGACTCTTGCTTCGTTGCCAGACTGGAGTGCAGTGGCACGATCTCAACTCAATGCAAACTCTGCCTCCGGAGTTCAAGCAATTCTCCTGCCTCAGCTTCCTAAGTAAAAATTAGCCTGGCTAATTTTTGTATTTTTAGTAGAGACGGGGTTTCACTGTGTTGGCCAGGCTGGTCTTGAACTCCTGACCTCAAGTGATCCGCCCGCCTTGGCCTCCCAAAGTGCGGGGTTTACAGGCGTGAGCCACCACACCTGGACCATTTTTGCAGAACTTCTTGGCCAAGCTTACAGATCTGCAAGAACAGCATGGGAACTGCCCTAGAACCTACCAGTCGGCTGGACACCCGGTTCATCATGATTCGCTCTGGCAGGTCCATTGTGTTGGCAATTGCCAGGACCACAAGCCGGGCCTCCTTATGAGTGGGCCAGTCAAAGAGATTGTACATTATGTCTTGTTTGTGAGTCCACAGAAGGTCGGGCTGCCAGGGCAAAGGAGAGAGGTGCAGAGTCAATCACAGAGACTGAGCTGGTGCTTCAAAATGAAGACCTATAACCACTGCTTTAGCTGCATGTTTCCCAAGTCATAGCACCAAAACAATCCATTGACACACGCCTCTCAGCACCAGAAAATGGGCTCATATGAATGGAGAAGGGAGCCAGGACTTTCCTCCCTCCCATCCAGCACTTGCTCCTGAGGTACAGCCCTGTTTCTTCTCCTGTCCGCCCATGGGCACCTCACCTCATCCACAAGCAGGACGGTGGTTTCCTGAGGTGACCCTCGGGTGCAGAATTGCTTTGCCAGCAGTTCTGCCGCATGGTTGGCTGTTGCTTTTTGGCCTGTTAGCTTCTGCATTAGGAGAAACACAGTTGTGAGGAACTGTAAGGGTCTTACTCCCTTGGGCTTAAAGTTAAATCTGCAAATGGAGGGAGGCATTTAACCTGAGGACTTCGGTATCCTATATTCTGCCTCCCAATCTAGTCTTAACCTTTACTTGGAAGGACAAGAGAAGGCACCGAAAGAGAAGATAAAGAAGGTATATGAGTTTGAAATGCAAATGAGTCACAGGCTGGGCCAGAAGCCCCCTTAAAATCACTATTACAGAATTCTATAACTGGATGTTACCTGCTCCAAAATAACAGCCCATGGACAAAGAGCAAGGCTTAACCTCTGGCCTGCCACGGACCCCTTTTCCATGTTGCCACACTGCTACCTGTAAGCTCACAGTTTTCACCATGTGGGTAAGTACTGGCTTCCTGGCTTGTAATCATTATCCAGCTCCTAGACTTTGAAGTCTCTTAGGGTAAGAATTCTGTCTTCCTTGCCCTTGCTACCTCTACAGAAAGGACAATGCCTGGTATATCATGAACATGCAATACACGCAAAATTAAGTAACTCTTTCCTTTTTCATGTGTCACGAAGAAACAGCATTTTCCAAAAAGCCTAAACAGCTCTGCTTACCTGCAAGATTTGCACATAGACTTGGTGGGGCTCCGTCAGCTTCATGCCATTGACCTCAATGTATTGAAAGGGAGGAACATCATTGGCTTGGGCTGCCTGCTGCAGGCAGCGTATCACTTCATGAACAGTGGCAGTCTTCCCTGTCCCAGGGACACCGGAGATGTACATGCACCTAGAGCAAGAGAGGAAAACCCGTGGGGTAGGTCTCAGCCAGCCACTACACGTTATAATCAGTTAGGAGTGTGGGAATGTATACTGAGGGAAGGACCGAGACCCTTGAAATGTGGAGGTGGGGGCAGTAGGGACCATCCTTGGAAGCTGGTCAGAGTAGGACCTGCTTATATAGAATCATTCATTCCACAGTTTGCATAATGCTATATGCAAACTGCCTACTCAATGAAGGCCAGTTTCATTCTTTCTGAAAGGCAAAATTTCTGTTACTATAGGATTACTTTGGCAACAAATGTTTCAGAAGCTTTGGGCTTCAGCAACGATTTGGTCTAGTCTGCTGATACTGGAGAAAGCCTGTATGGCTGAACTGTAACACCCAAGGCATTCCACTAGCAGGGGCCTTATTCCCCAAACTACCCTGCCTGCCTCACATGACTCACCCTCCGGTATGGTCAAGGAGTTTGCTTTCCACAAAATTGTAGATGTCTTGGAATTCCTGTTCCCGACAGGGAAGAGACTCAGGTACAGCAGAAACATGCAGCCTACCATTGGTGGTAAACGGGAGAAAAGGAAGACTTTAGGAACATTCCCCAACCATCTACTCATTAATCAATGGAAAATGATTATGGTTTCTTGTCTATGTTTCTACCTGAAAACTCAATTTCAAATGCTAGAGAATCCCTTCATTCTCAAATCCCTCCATTTGGCCTCATAATCCTTGGCCTCCGTTTCTCCACCCAAATCACATGGGTGGACCTCATCCCACAGGAGATTCAGATTTTGCTTGATTTCTGACAGGATCCAGACTTATATGAAAGTCTCCATATGGTTCTAAAGGGCATCAAAACAAAGAGGCACTGTCCTGACTAATCATCTTCCATCCCTGCGGAAATGA
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Task1_train_898
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A variant has been detected on Chromosome 1 in ORC1 (origin recognition complex subunit 1). What is its effect — pathogenic or benign? If pathogenic, name the disease.
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Pathogenic; Meier-Gorlin syndrome 1
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AAATAAAATTAGCCAGGCATAGTGGTACACACTTGTAGTCCCAGCTACTTGGGAGACTGAGGAAGGAGGATCATTTGAGCCCAAGAGGTCAAGCCTACAATAAGTCGTGATTGTGCCATTGCATTCCAACCTGGGTGACACAGCAAGACTCTGTCTCAAAAAACAAAAACAAAAAAACCCAGAAAATGGAGCCAAGTGCAGTGATGTACCCTTGTAGTCCCAGCTACTGGGGAGGCTGAGGCAGAAGGATTGCTTGAGCATGATCACTTGAGTTCCAGGCTATAGTGCACTGTGATCACTAACTCAATACTTTCCCATAAATTATCATTTTTATCACATAACCCTTTAGCCCCAGTATTGCCCACGGTGATCCATTCCACAACTTACTGCCAAGCTCCAGCCTCTTTCTGGCTCTTGGGGTAAGAGGATGGGTAGGAGTTTGGCGAGATTTGGAGGCGGAGTGCCTTGATTCAATCCTTTTGGCCACATGTTCTGCTGGGGTCCAAGAAGGGCTCTCTGCACTCTTACTCTTGGCTCTCACGGGTTTCTGGCACTTGGCTGCACTCTCTTGTGGTTTATTCAACTCCGCAAATAGTTCTGAGGAAAGTGGCCTGAATTTCTTCTCATTCCAGGATAGTTTCACAAAGAGTGTCTTCTCATTTTTCAGATTCGTCGGTACCACATCCTTTGGGGCTAAAGGTATCACCTGAATTTAGGAAGTATAGATAAGTAGGAAGAGATGAGCCCCAAGAGAGCCAAGGAGTATTCCATCAGAGCTACAATTAAAAACATTGAAGTCCACATCTGTACCTAAAATGTTACCTTTCCAATCTAAAGACGCATAGACATGGCATAGCATATTGCTAGAAAAACACATAATAATGAATATTTACTGAGTATTTACTCATTTTATCATTAATCACTTTAAAGACATCAGTGAAATAAATTATTCCTTTCATTTCATTTTAAAAATGTTTATTGTTCATCTCTCAATTCCTATTATTATCACCCTAGTTCAAATATGCATCCTCTCACTCCTGGGTTATTTTCACAGATTCCTCCTAGCTGATATTCTTATACCCTACCATTGCTTTCTTTTCCAGTCCATTCTGTTCGCCTATGCCAAGTTTCCCCACAAACTTATCTAAACATGCTCGCCTGCTCAACAGCCAATAATGGCTCCCACTGTAGCAAGACCAAATTACTTAAACTAATTTTTCAATGCCTTCTAAGATCTGGCCTCATTTTACCTACAGAGTGCGCAATACTCCTTGAAGAGGTCTTGTCACAGTCCTGCTATTCCCACCACTGTGCTCCTGCCCAGATGCTCCAAGCCCTGTGCCTCTCCGCGTATACTCATCCTGCTGCCTCAACTTTTGCATCTGCCTCACACTCCTTTAGCTTTCTCTCCTTCACTCATTTAACTCAAAGATAAATTAAGATAATCATGCCAGACGAGAGTCTCTACCCTAACGCTCAATGAACCACATAATCAGCATACAACCACACCTCACATCACAACCTAATCCCATGCTGGGGAGCCTGAAGTCACTTCAGGAAAAACTCATAACCAGTGACTTACTTCAGCCTGCAAACCAGCCGCTCATTAGCACCTGATTTATTAAGAAATCCTGTCATACAAATTTGTCTGTAGCAACTAGCACTCTTTGTACTGATTTACTCAAGGTGCAGTCCTCGTTTAAGCCAGCATATTCAGCCTCACAATGCTTTATGCATGCCACAGTCATAGCTAAATATAACATCCCCCTGAGATACATCTGCTAATTCCTGCTCATCCCTCAGGTCACAACCCAAATGTCACCTCTTGTAGGAGGCTCCTAACACATGATACGTGCTCTCAATAAATATCTGTTGAGATGAAACAGACAGGCAAGCACAGAAGATGACAGGAAATAATGCATTCCCTATGGGGTATTAGAGCCGGTAATATTTCTGGGGTCATGAAGTTCAGGAGGCAGACAGAAATAAGCTTCAAGGTAGAACCAAGGATGGTGGCATCACCTACCCGAACAAGGCCAATGATGGTCTCCGCATTAATGTTGCTGTCACAGGCCGGGTAATCATACCAGAATATTTCCTGTGCACCAGGCTTCCGGCCCAACAAATGCCGTTTACAGGCAGGGACTTCACAGAATCGGACAAACCACTGTACTCGAGCACGTTTCTTAGGAGGAGGATCAGAGTCTAGAAAGAATTTGGTGGAAAGGGAAAGGTTAAGACAACTCAAGGACACTTTACTGAGCAATTCCTATGTGCCAGACACTGTGCTTAACCCTTGACATGTGTGGTTTTGTTTTTTGTTTTTTGAGACAGAGTCTCTGTCACCCAGGCTGGAGTGCAGTGGCCCCATCTTGGCTCACTGCAACCTCTGCCTCCTGGGTTAAAGTGATTCTGCTGCCTCAGCCTCCTGAGTAGCTGAGATTACAGGCACCTGCCATCCTACCTGGCTAATTTTTGTATTTTCAGTAGAAACGAGGTCTCACCACGTTGGCCAGGCTGGTCTCAAACTCGTGACCTCACGTGATCTGCCTACCTTGGCCTCCCAAAGTGCTGGAATTACAGGCATGAGCCACCACCTCCCGCCAAAATTTTTTTTTTTTTTGTGACGGAGTCTTGCTCTGTCCCCCAGGCTGGAGTGCAGTGGCGTGATCTCGGCTCACTGCAACCTCTGCCTCCCTGGTTCAGGAGATTCTCCTGGCTCAACCTCCCGAGTAGCTGGGACCACAGGCCTGTGCCACCACGCCTGGCTAATTTTTATATTTTTAGTAGAGATAGGGTTTCACCATGTTGGCCAGGCTGGTCTCAAACTCTTGACCTCAAGTGATCCGCCCGCCTTGGCCTCTCAAAGTGCTGGGATTACAGGCATGAGCCACCATGCCTGGCCCAACATGTGTTATCTTTTATTTTATTTTATTTTTTTGAGACGGAGTCTCACTCTGTCACCTGGACTGGAGTGCAGTGGTTTGATCTTGGCTCACTGCAAGCTCCGCCTCCCAGGTTCACACCATTCTCCTGCCTCAGCCTCCCAATTAGCTGGGATTACAGGCGCCCGCCATCACGCCCAGCTAATTATTTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCGTGTTAGCCAGGACGGTCTCAATCTCCTGACCTCGTGATCCGCCTGCCTCGGCCTACCAAAGTGCTGGGATTACAGGCATGAGCCACCACACCTGGCCGATCCTTAATCCTTCTAATAACCCTACAAGGTAGGTACTACAGCTATCCCCCTTTTCAGGCAAAGAAATCAAGTGACGGGGGACCTTAAAGAGTTTGTCAAAGGTCACATGACCAACTGCAGCAATCTAATTCCAGCCCACACACCCGCTCTTCTGGGATTGCTCCATTTCCTAATGGTGCTATCAGCCGGCAAAGGAATGACAAAAAGGCCTCTGAGAGGAGCTACTCTAAACACAGGCAACGAACAAATAAAAATCAGTGACTATAAAGACAGCATCAAACAGCAGCAAAACAAAAATCCTAGCAAGAATTATAGCATCAGGCTGGGTGCAGTGGCTCACGTCTGTAATCACAGTACTCTGGGAGGCCAAGGCAGGCGGATCACTTGAGGTCAGGAGTTGGAGACCAGCCTGCCCAACATGGTGAGACCTCATCTCTGCTAAAAATACAAAAAATTGTCCAGGTGCGGCGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCTGAGGCGGGCGGATCATGAGGTCAGGAGCTCAAGACCATCCTGGCTAACACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTAGCTGGGCATGGTGGCGGGTGCCTGTAGTCTCAGCTACTCGGGAGGCTGAGGCAAGAGAATGGCTTGAACCCGGGAGGCAGAGCTTGCAGTGAGCCGAGATGGCGCCACTGCACTCCAGACTGGGCGACACAGCGAGACTCTGTCTCAAAAAAAAAAAAAAAAAAAAGAAAGAAAAAGAAAATTAGCTGGGCATGGTGGCAGGTGCCTGTCATCCCAGCTACTTGGGAGGCTGAGGCAGGAGAACTGCTTGAACCCAGGAGGTTGAGGCTGCATGAGC
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AAATAAAATTAGCCAGGCATAGTGGTACACACTTGTAGTCCCAGCTACTTGGGAGACTGAGGAAGGAGGATCATTTGAGCCCAAGAGGTCAAGCCTACAATAAGTCGTGATTGTGCCATTGCATTCCAACCTGGGTGACACAGCAAGACTCTGTCTCAAAAAACAAAAACAAAAAAACCCAGAAAATGGAGCCAAGTGCAGTGATGTACCCTTGTAGTCCCAGCTACTGGGGAGGCTGAGGCAGAAGGATTGCTTGAGCATGATCACTTGAGTTCCAGGCTATAGTGCACTGTGATCACTAACTCAATACTTTCCCATAAATTATCATTTTTATCACATAACCCTTTAGCCCCAGTATTGCCCACGGTGATCCATTCCACAACTTACTGCCAAGCTCCAGCCTCTTTCTGGCTCTTGGGGTAAGAGGATGGGTAGGAGTTTGGCGAGATTTGGAGGCGGAGTGCCTTGATTCAATCCTTTTGGCCACATGTTCTGCTGGGGTCCAAGAAGGGCTCTCTGCACTCTTACTCTTGGCTCTCACGGGTTTCTGGCACTTGGCTGCACTCTCTTGTGGTTTATTCAACTCCGCAAATAGTTCTGAGGAAAGTGGCCTGAATTTCTTCTCATTCCAGGATAGTTTCACAAAGAGTGTCTTCTCATTTTTCAGATTCGTCGGTACCACATCCTTTGGGGCTAAAGGTATCACCTGAATTTAGGAAGTATAGATAAGTAGGAAGAGATGAGCCCCAAGAGAGCCAAGGAGTATTCCATCAGAGCTACAATTAAAAACATTGAAGTCCACATCTGTACCTAAAATGTTACCTTTCCAATCTAAAGACGCATAGACATGGCATAGCATATTGCTAGAAAAACACATAATAATGAATATTTACTGAGTATTTACTCATTTTATCATTAATCACTTTAAAGACATCAGTGAAATAAATTATTCCTTTCATTTCATTTTAAAAATGTTTATTGTTCATCTCTCAATTCCTATTATTATCACCCTAGTTCAAATATGCATCCTCTCACTCCTGGGTTATTTTCACAGATTCCTCCTAGCTGATATTCTTATACCCTACCATTGCTTTCTTTTCCAGTCCATTCTGTTCGCCTATGCCAAGTTTCCCCACAAACTTATCTAAACATGCTCGCCTGCTCAACAGCCAATAATGGCTCCCACTGTAGCAAGACCAAATTACTTAAACTAATTTTTCAATGCCTTCTAAGATCTGGCCTCATTTTACCTACAGAGTGCGCAATACTCCTTGAAGAGGTCTTGTCACAGTCCTGCTATTCCCACCACTGTGCTCCTGCCCAGATGCTCCAAGCCCTGTGCCTCTCCGCGTATACTCATCCTGCTGCCTCAACTTTTGCATCTGCCTCACACTCCTTTAGCTTTCTCTCCTTCACTCATTTAACTCAAAGATAAATTAAGATAATCATGCCAGACGAGAGTCTCTACCCTAACGCTCAATGAACCACATAATCAGCATACAACCACACCTCACATCACAACCTAATCCCATGCTGGGGAGCCTGAAGTCACTTCAGGAAAAACTCATAACCAGTGACTTACTTCAGCCTGCAAACCAGCCGCTCATTAGCACCTGATTTATTAAGAAATCCTGTCATACAAATTTGTCTGTAGCAACTAGCACTCTTTGTACTGATTTACTCAAGGTGCAGTCCTCGTTTAAGCCAGCATATTCAGCCTCACAATGCTTTATGCATGCCACAGTCATAGCTAAATATAACATCCCCCTGAGATACATCTGCTAATTCCTGCTCATCCCTCAGGTCACAACCCAAATGTCACCTCTTGTAGGAGGCTCCTAACACATGATACGTGCTCTCAATAAATATCTGTTGAGATGAAACAGACAGGCAAGCACAGAAGATGACAGGAAATAATGCATTCCCTATGGGGTATTAGAGCCGGTAATATTTCTGGGGTCATGAAGTTCAGGAGGCAGACAGAAATAAGCTTCAAGGTAGAACCAAGGATGGTGGCATCACCTACCCGAACAAGGCCAATGATGGTCCCCGCATTAATGTTGCTGTCACAGGCCGGGTAATCATACCAGAATATTTCCTGTGCACCAGGCTTCCGGCCCAACAAATGCCGTTTACAGGCAGGGACTTCACAGAATCGGACAAACCACTGTACTCGAGCACGTTTCTTAGGAGGAGGATCAGAGTCTAGAAAGAATTTGGTGGAAAGGGAAAGGTTAAGACAACTCAAGGACACTTTACTGAGCAATTCCTATGTGCCAGACACTGTGCTTAACCCTTGACATGTGTGGTTTTGTTTTTTGTTTTTTGAGACAGAGTCTCTGTCACCCAGGCTGGAGTGCAGTGGCCCCATCTTGGCTCACTGCAACCTCTGCCTCCTGGGTTAAAGTGATTCTGCTGCCTCAGCCTCCTGAGTAGCTGAGATTACAGGCACCTGCCATCCTACCTGGCTAATTTTTGTATTTTCAGTAGAAACGAGGTCTCACCACGTTGGCCAGGCTGGTCTCAAACTCGTGACCTCACGTGATCTGCCTACCTTGGCCTCCCAAAGTGCTGGAATTACAGGCATGAGCCACCACCTCCCGCCAAAATTTTTTTTTTTTTTGTGACGGAGTCTTGCTCTGTCCCCCAGGCTGGAGTGCAGTGGCGTGATCTCGGCTCACTGCAACCTCTGCCTCCCTGGTTCAGGAGATTCTCCTGGCTCAACCTCCCGAGTAGCTGGGACCACAGGCCTGTGCCACCACGCCTGGCTAATTTTTATATTTTTAGTAGAGATAGGGTTTCACCATGTTGGCCAGGCTGGTCTCAAACTCTTGACCTCAAGTGATCCGCCCGCCTTGGCCTCTCAAAGTGCTGGGATTACAGGCATGAGCCACCATGCCTGGCCCAACATGTGTTATCTTTTATTTTATTTTATTTTTTTGAGACGGAGTCTCACTCTGTCACCTGGACTGGAGTGCAGTGGTTTGATCTTGGCTCACTGCAAGCTCCGCCTCCCAGGTTCACACCATTCTCCTGCCTCAGCCTCCCAATTAGCTGGGATTACAGGCGCCCGCCATCACGCCCAGCTAATTATTTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCGTGTTAGCCAGGACGGTCTCAATCTCCTGACCTCGTGATCCGCCTGCCTCGGCCTACCAAAGTGCTGGGATTACAGGCATGAGCCACCACACCTGGCCGATCCTTAATCCTTCTAATAACCCTACAAGGTAGGTACTACAGCTATCCCCCTTTTCAGGCAAAGAAATCAAGTGACGGGGGACCTTAAAGAGTTTGTCAAAGGTCACATGACCAACTGCAGCAATCTAATTCCAGCCCACACACCCGCTCTTCTGGGATTGCTCCATTTCCTAATGGTGCTATCAGCCGGCAAAGGAATGACAAAAAGGCCTCTGAGAGGAGCTACTCTAAACACAGGCAACGAACAAATAAAAATCAGTGACTATAAAGACAGCATCAAACAGCAGCAAAACAAAAATCCTAGCAAGAATTATAGCATCAGGCTGGGTGCAGTGGCTCACGTCTGTAATCACAGTACTCTGGGAGGCCAAGGCAGGCGGATCACTTGAGGTCAGGAGTTGGAGACCAGCCTGCCCAACATGGTGAGACCTCATCTCTGCTAAAAATACAAAAAATTGTCCAGGTGCGGCGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCTGAGGCGGGCGGATCATGAGGTCAGGAGCTCAAGACCATCCTGGCTAACACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTAGCTGGGCATGGTGGCGGGTGCCTGTAGTCTCAGCTACTCGGGAGGCTGAGGCAAGAGAATGGCTTGAACCCGGGAGGCAGAGCTTGCAGTGAGCCGAGATGGCGCCACTGCACTCCAGACTGGGCGACACAGCGAGACTCTGTCTCAAAAAAAAAAAAAAAAAAAAGAAAGAAAAAGAAAATTAGCTGGGCATGGTGGCAGGTGCCTGTCATCCCAGCTACTTGGGAGGCTGAGGCAGGAGAACTGCTTGAACCCAGGAGGTTGAGGCTGCATGAGC
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Task1_train_899
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Here is a genetic alteration in ORC1 (origin recognition complex subunit 1) on Chromosome 1. Based on the data, is it a benign variant or a cause of disease?
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Pathogenic; Meier-Gorlin syndrome 1
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CTCTGCTAAAAATACAAAAAATTGTCCAGGTGCGGCGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCTGAGGCGGGCGGATCATGAGGTCAGGAGCTCAAGACCATCCTGGCTAACACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTAGCTGGGCATGGTGGCGGGTGCCTGTAGTCTCAGCTACTCGGGAGGCTGAGGCAAGAGAATGGCTTGAACCCGGGAGGCAGAGCTTGCAGTGAGCCGAGATGGCGCCACTGCACTCCAGACTGGGCGACACAGCGAGACTCTGTCTCAAAAAAAAAAAAAAAAAAAAGAAAGAAAAAGAAAATTAGCTGGGCATGGTGGCAGGTGCCTGTCATCCCAGCTACTTGGGAGGCTGAGGCAGGAGAACTGCTTGAACCCAGGAGGTTGAGGCTGCATGAGCTGAGATTGTGCCACTGCACTCCAGTCTGGGTGACACAGCAAGATTCTGTCACTGTCACACACACACACACACACACACACACACAAGAATTACAGCATCAACCACTGAGATGACTTCTGGCAAATGCTTGCAATCTTCAGCTTTATTATTACAGCATACGATTAGTATCACTCCGTACCAGCAATAGCTCCAACCGAAAGAACACTCATTAGTGCCTCATCATCATCCTCTCTTCCCTGCTTAGCTTTCTTCAGAGAAAGACTAAAGTCATCCAATGGAGCACCAAGAGAGGATTCTAGAATCTATACACCGAAGCCCATGATTCTGATGTGCTGCCTCTACTGGACATTAGTTTGATGAGGTTTTTCTCCATACTTCTAAGTATGTCAAAGAGAAAGTATGTCCAAAATCCTCCTTATCTATGTGCAGTACTCTCCCCTTATCTGCTGAGGGTACGCGCCAAGACCAGTAGATGCTTGAACCTGCAGATGCTGCCACTAACCCTGTATATGCTATGATTTTTCCTACACACACATACTGTACAGCACGGATACACTGGACAAAGGGATGACTCACATTTCAGGTGGGACAGCGTGAGATTTCACCACATTACTCACAATGGCACACAATTTAAAGCTTATGACTTGTTTTTTTCTGTAATTTTCCATTTAATATTTTTGGACTATGGTTGTTGTCAGGTAACTGAAATCGCAGAAGGTGAAACCACGGATAAGGGGGACTATAGTAATATAAAACATCTTTATCCACTCAGTCTATCAGTTCCTTCTCTTGGGCATACAGACTACCACAGGATTACCTAATGACCATGCCCTTCTTCTGTCTCTTGAACGAGGCAGTTTTAGATAGTTTCAAATTGCTATCTTCCTAATCCTCCTTGTGGAGCTGTGCCCCACTCCCACATTTCTGTGCTCTCCTCTTGTTTTGCAGAGGGTTAGAAGGTCAGCAAATCAGCTAAGGCTTTCGATGTGGGCTTGTAGGCTCTGGTTGATGCCACCTTCCCTTTTGTTCCTCCAGCCTAGGGGCAGCCGTGGCTTCCTGCACTTACTCATCTCTGGTAAATGTCACCTTTTCTTCTAGCCTTTCCAACATTAACACACAAGTTCCTCTGGGTAAAATATCTTAAGTGTTTTTGTTTTCCCTGACTGAAACCCCAATTGCTACACCTTCCAAATCCAACTTACCTCTTCACTTGTAACGAAGTAGCACTTGCAAAATATATTACTAACCTTCATGCCAAAACTAAAGGACACATCTCTATGATAGTACAAATTACCTGTTTTTTCCTTCTCCCTTTCCCCCAAATTCATCCATTCTCTCCATCCCCCCCAATTCTGCCTTAATAGCCTTGCTTACTCCCCAAAATAATGAAAAAGTTAAATTATTGAGCCTTCCAGTTCCGTTTTACTCAATACTGCTTTGGTGAGTAAAGAAATTTTTTAGATGGAAGAAGACGCAGCTAGTTCTTACGTGATCCCACCTCAGTCTAATGTGCCCTGCACACTGCTGTGAACAAAAGAATCCACAATCTCCCCACCTCCCAATCATTCATGACAAGGAATGGTTTATTATTCCAGTCCCAAACTCACCATCTTCGAACAACTCAAGCAATTTAGCAACATACGGGTTTTCATCATCATCCCCTTCAATCAACACAAACTGTCCAATCTGGATGTGAATCTCGGTGGAACAACCTTCTGTTTTCACACACATTTCTCTAGGAAGTAACAGAGAAGCACATTAGGAAATAACTTAAAGTGGGTCAAGCTCTTCAGATCCCCTGGGCACAAAGGAGAGGGCTCTCCAATCCTGATTTCTTTCTGCTGACCAACTCTCCTACTGGGAAACCAATTCGCCCAGTTATATTTAAGAATAGGCAAAATGGGTTGAATGAATTGTTTTAGCTGAGTAATGAATCCAAAGGTCTTATTAGGAACCCTAATTCCTCTCAGTTATTGACAAAGAACAACAAATGCTTCCCACAACAAATGTTTCCCAAGGCTGTCAAGCTGCCCAGTAACAATGTCAAATTGTCAGAGATCTCCAGGGCTGGGAAAGACATAGTAAAAACATCTATCATCTCGTTTTCATCAAAAGTTATATAGAACTCACCTTAAATAGACATGACATTATCCTACATACAAAATTTTATGAGCCTGCCATAATTTTGCTCCATCACTAACTGCTATATTTATCCCACCATCTTCTTGCATCAAACAAAACCCTCCTTACAATCAGTTCTAATCTCCTGTTCATTCATGGTCAATCTGTAGTAATTAGAACAGGCTAGATACAAGTTGACTGTTTAGCTTGAGAAGCTGTATTTCCAGGACAACCAAAGGACCCCATCACTCACCTATAGGTTTGGTAGTGCAGTTTTCGATCCAACAAGGGCCTGCCAACCCATGAATAAGTTTTTCTGGTCTTCAGCCTTGTGGGGTAGTGTGCCATGGCTTCTGTGGAAGAGTCCAAACTCTGAGTTACCATGATAAATATTTGGTATTTATCTGATGGATTCTAAGACATAGTCAGTCCCTCCCTTCAAATGAGATCAGACTTATTTTCTGCCCCTGCTACACTCCCATACATTTTAGACTAAGAAAACATTTTATTTGAAGTCATGGTCTACGAAGATTACACACAGGCAATTTAGTATCATCTGTGTCCATCTTGTACTATGCCGTATCTCTTTCCATCCAGGAAAACAGAAAGGTCAATTCCTAAGAAATGAAACTGTAACATTTAGAAATACTAGGAATAAGGCAGAACAATAGGTGTAAAACATCTAACAAAGTGAAATTAAAAGACAGTGATACAGGGGTTGTAAATGTCTTCATGACGCTTATAAAATGCACACAAGGATAAAACAGAAATACAAAGGCTGGGCGCAGTGGCTCACGCCTGTAATCCCAGCATTTTGAGAGGCTGAGGTGGGTGGATCACCTGAGGTCAGGAGTTCGGGACCAGCCTGGCCAACATGGTGAAACCCCGTCTCTACTAAAAATACAAAAATCAGGTGGGCATGGTGGCAGGCAAATCACTTGAACCCGGGAGGTGGAGGCTGCAGTGAGCCGAGATCGCAACACTGCACTCTAGTCTGGGTGACAGAGCAGAACTCTGTCTCAAAATAAAAAAAAGAAAAGTAGATGTTATTATCACTTCAAGGTGATAACTTATCCTATCTTATACAGGATGGCACAGCCTTAACTCAAACCCGGAAAAGCCAGACTGCAATTACTGTGCTCTTAACTACTTCACCTTACAACACACTGTGTGAAACTGGATAATGTTAATATGTAACTGAGAGCTTGCTTTTGGTGTACTTATTACAATAAATCAGGCTTCCCAGCCACTGACTGAACATTGTGGATTGGGCCTCAATTTGCTTACCCACAAAATGGAGAAAATAGAATCTTCCGTTTATTCAACCAATATTTATTAAGTACCCATCGTGTGCCAGGCACTATTTTAGGATAATGGAAGATTAAGTGAAAAAATGCAAAATGGTAAATCCACTTTCCCACTACCTTAATCCCTTGCATTTATTTGTAAGGTACAGTGGTTTTATTTATTAAGTATCATTTGATGAATACTATGGAACTAACATAATTCAAGCAAAATTTTGCATTCAATTTCGGCAGAT
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CTCTGCTAAAAATACAAAAAATTGTCCAGGTGCGGCGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCTGAGGCGGGCGGATCATGAGGTCAGGAGCTCAAGACCATCCTGGCTAACACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTAGCTGGGCATGGTGGCGGGTGCCTGTAGTCTCAGCTACTCGGGAGGCTGAGGCAAGAGAATGGCTTGAACCCGGGAGGCAGAGCTTGCAGTGAGCCGAGATGGCGCCACTGCACTCCAGACTGGGCGACACAGCGAGACTCTGTCTCAAAAAAAAAAAAAAAAAAAAGAAAGAAAAAGAAAATTAGCTGGGCATGGTGGCAGGTGCCTGTCATCCCAGCTACTTGGGAGGCTGAGGCAGGAGAACTGCTTGAACCCAGGAGGTTGAGGCTGCATGAGCTGAGATTGTGCCACTGCACTCCAGTCTGGGTGACACAGCAAGATTCTGTCACTGTCACACACACACACACACACACACACACACAAGAATTACAGCATCAACCACTGAGATGACTTCTGGCAAATGCTTGCAATCTTCAGCTTTATTATTACAGCATACGATTAGTATCACTCCGTACCAGCAATAGCTCCAACCGAAAGAACACTCATTAGTGCCTCATCATCATCCTCTCTTCCCTGCTTAGCTTTCTTCAGAGAAAGACTAAAGTCATCCAATGGAGCACCAAGAGAGGATTCTAGAATCTATACACCGAAGCCCATGATTCTGATGTGCTGCCTCTACTGGACATTAGTTTGATGAGGTTTTTCTCCATACTTCTAAGTATGTCAAAGAGAAAGTATGTCCAAAATCCTCCTTATCTATGTGCAGTACTCTCCCCTTATCTGCTGAGGGTACGCGCCAAGACCAGTAGATGCTTGAACCTGCAGATGCTGCCACTAACCCTGTATATGCTATGATTTTTCCTACACACACATACTGTACAGCACGGATACACTGGACAAAGGGATGACTCACATTTCAGGTGGGACAGCGTGAGATTTCACCACATTACTCACAATGGCACACAATTTAAAGCTTATGACTTGTTTTTTTCTGTAATTTTCCATTTAATATTTTTGGACTATGGTTGTTGTCAGGTAACTGAAATCGCAGAAGGTGAAACCACGGATAAGGGGGACTATAGTAATATAAAACATCTTTATCCACTCAGTCTATCAGTTCCTTCTCTTGGGCATACAGACTACCACAGGATTACCTAATGACCATGCCCTTCTTCTGTCTCTTGAACGAGGCAGTTTTAGATAGTTTCAAATTGCTATCTTCCTAATCCTCCTTGTGGAGCTGTGCCCCACTCCCACATTTCTGTGCTCTCCTCTTGTTTTGCAGAGGGTTAGAAGGTCAGCAAATCAGCTAAGGCTTTCGATGTGGGCTTGTAGGCTCTGGTTGATGCCACCTTCCCTTTTGTTCCTCCAGCCTAGGGGCAGCCGTGGCTTCCTGCACTTACTCATCTCTGGTAAATGTCACCTTTTCTTCTAGCCTTTCCAACATTAACACACAAGTTCCTCTGGGTAAAATATCTTAAGTGTTTTTGTTTTCCCTGACTGAAACCCCAATTGCTACACCTTCCAAATCCAACTTACCTCTTCACTTGTAACGAAGTAGCACTTGCAAAATATATTACTAACCTTCATGCCAAAACTAAAGGACACATCTCTATGATAGTACAAATTACCTGTTTTTTCCTTCTCCCTTTCCCCCAAATTCATCCATTCTCTCCATCCCCCCCAATTCTGCCTTAATAGCCTTGCTTACTCCCCAAAATAATGAAAAAGTTAAATTATTGAGCCTTCCAGTTCCGTTTTACTCAATACTGCTTTGGTGAGTAAAGAAATTTTTTAGATGGAAGAAGACGCAGCTAGTTCTTACGTGATCCCACCTCAGTCTAATGTGCCCTGCACACTGCTGTGAACAAAAGAATCCACAATCTCCCCACCTCCCAATCATTCATGACAAGGAATGGTTTATTATTCCAGTCCCAAACTCACCATCTTTGAACAACTCAAGCAATTTAGCAACATACGGGTTTTCATCATCATCCCCTTCAATCAACACAAACTGTCCAATCTGGATGTGAATCTCGGTGGAACAACCTTCTGTTTTCACACACATTTCTCTAGGAAGTAACAGAGAAGCACATTAGGAAATAACTTAAAGTGGGTCAAGCTCTTCAGATCCCCTGGGCACAAAGGAGAGGGCTCTCCAATCCTGATTTCTTTCTGCTGACCAACTCTCCTACTGGGAAACCAATTCGCCCAGTTATATTTAAGAATAGGCAAAATGGGTTGAATGAATTGTTTTAGCTGAGTAATGAATCCAAAGGTCTTATTAGGAACCCTAATTCCTCTCAGTTATTGACAAAGAACAACAAATGCTTCCCACAACAAATGTTTCCCAAGGCTGTCAAGCTGCCCAGTAACAATGTCAAATTGTCAGAGATCTCCAGGGCTGGGAAAGACATAGTAAAAACATCTATCATCTCGTTTTCATCAAAAGTTATATAGAACTCACCTTAAATAGACATGACATTATCCTACATACAAAATTTTATGAGCCTGCCATAATTTTGCTCCATCACTAACTGCTATATTTATCCCACCATCTTCTTGCATCAAACAAAACCCTCCTTACAATCAGTTCTAATCTCCTGTTCATTCATGGTCAATCTGTAGTAATTAGAACAGGCTAGATACAAGTTGACTGTTTAGCTTGAGAAGCTGTATTTCCAGGACAACCAAAGGACCCCATCACTCACCTATAGGTTTGGTAGTGCAGTTTTCGATCCAACAAGGGCCTGCCAACCCATGAATAAGTTTTTCTGGTCTTCAGCCTTGTGGGGTAGTGTGCCATGGCTTCTGTGGAAGAGTCCAAACTCTGAGTTACCATGATAAATATTTGGTATTTATCTGATGGATTCTAAGACATAGTCAGTCCCTCCCTTCAAATGAGATCAGACTTATTTTCTGCCCCTGCTACACTCCCATACATTTTAGACTAAGAAAACATTTTATTTGAAGTCATGGTCTACGAAGATTACACACAGGCAATTTAGTATCATCTGTGTCCATCTTGTACTATGCCGTATCTCTTTCCATCCAGGAAAACAGAAAGGTCAATTCCTAAGAAATGAAACTGTAACATTTAGAAATACTAGGAATAAGGCAGAACAATAGGTGTAAAACATCTAACAAAGTGAAATTAAAAGACAGTGATACAGGGGTTGTAAATGTCTTCATGACGCTTATAAAATGCACACAAGGATAAAACAGAAATACAAAGGCTGGGCGCAGTGGCTCACGCCTGTAATCCCAGCATTTTGAGAGGCTGAGGTGGGTGGATCACCTGAGGTCAGGAGTTCGGGACCAGCCTGGCCAACATGGTGAAACCCCGTCTCTACTAAAAATACAAAAATCAGGTGGGCATGGTGGCAGGCAAATCACTTGAACCCGGGAGGTGGAGGCTGCAGTGAGCCGAGATCGCAACACTGCACTCTAGTCTGGGTGACAGAGCAGAACTCTGTCTCAAAATAAAAAAAAGAAAAGTAGATGTTATTATCACTTCAAGGTGATAACTTATCCTATCTTATACAGGATGGCACAGCCTTAACTCAAACCCGGAAAAGCCAGACTGCAATTACTGTGCTCTTAACTACTTCACCTTACAACACACTGTGTGAAACTGGATAATGTTAATATGTAACTGAGAGCTTGCTTTTGGTGTACTTATTACAATAAATCAGGCTTCCCAGCCACTGACTGAACATTGTGGATTGGGCCTCAATTTGCTTACCCACAAAATGGAGAAAATAGAATCTTCCGTTTATTCAACCAATATTTATTAAGTACCCATCGTGTGCCAGGCACTATTTTAGGATAATGGAAGATTAAGTGAAAAAATGCAAAATGGTAAATCCACTTTCCCACTACCTTAATCCCTTGCATTTATTTGTAAGGTACAGTGGTTTTATTTATTAAGTATCATTTGATGAATACTATGGAACTAACATAATTCAAGCAAAATTTTGCATTCAATTTCGGCAGAT
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Subsets and Splits
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