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_10300
|
A variant has been detected on Chromosome 6 in PRPH2 (peripherin 2). What is its effect — pathogenic or benign? If pathogenic, name the disease.
|
Pathogenic; PRPH2-related disorder
|
TTTACTAACAGGCTCTCATTCAACACCTGAGCTGTGCCTGGCATATGGGTACATGTTTAAGAAATATCTCTGACCACGTGTGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCCGAGGCTGGTGGATTATTTGAGGTCAGGAGTTCAAGACCAGCTTGGCCAACATGGTAAAACCCCATCTCTACTAAAAATACAAAAACTGGCTAGGCGTGGTGGTGCACGCCTGTAATCACAGCTACTTGGGAGGCTGAGACAGGAGAATTGCTTGAACCTGGGAGGTGGAGCTTGCAGTGAGCTGAGATCGTGCCATTGCACTCCAGCCTGGGTGACAGAGCAAGACTTCATCTCAAAAAAAAAGAAAGAAATATCTCTTGGCCAGATGCAGTGGCACACACCTGTAATCCCAGCACTTTGGGGGACCAAGGTAAGAGGATTGCTTGAAGCCAGGAGTTAGAGAGCAGCCTGGGCAACATAGCAAGACCCCATTTCTACAGAAGACTCTACGGAGTATGACTCAGGGCACCTGTTTTCAGCTACTCTGCATGTGCCTATAGTCCTAGCTACTCAGAAGGCTGAGGTGGGAAGAGCCCTGAGCCCAGGAGTTCAAGGCTGCAGTGAGCTACGATCATGCCCCTGCACTCCAGCCTGGGTGACAGGTGAATTTTTCTTCTTGTCTCTAAAAAAAATAATAATAAACAATTTAAAATAATAAAAATAAAAAATGAATATCTCTTTAACCAAAGAGCGAATTCAGCACACTCACCGAGGATTTGCTTACATTGCAAGCCCTATAGCTACAGAGAAACTGAGCGTTGCAGATAAGATGAACCCACACATAACTAGACTAACAGGTAAATGAGGACCAGCATCCCAAGAAGCACAAATCCAAACAGTACCCATTTCCTGAACACCTGCACATGCTGTTCATGTTGCCTCCCAATAGTCCCCAAAGCTAAGTGCTGTCACCCCATATAACAGAGAGGTTAAATGACTAAGACCTCGGTACCAAAAAGTGGGGACACAGGATGAACCTCCAAAACATGCTAACTAAAAGAAGCCAAACGTAATATGGGTCCATTTATATGAAATGTCCAAAATACATAAATCCAGAGAACAGTTGCCAGGGGCTGGAGGGCAGGTTGGGAGGTGGTGACTGCTTCATGGGTGTGAGATTTTCTTGGGGGCTGATGGAAGTCTTTTGGAACTAGGTAGAGGTGCTTGCACAACATTGTAAATCAACTAGATGACACCAAATTGTTTACCTTTTATAAATCTCACCTCAATTAAAAAAACAATTGTCGGTCGGGTGCAGTGCTCACACCTGTAAACCCAGACTTCGGGAGGCCGAGGCAGGCAGATCACGAGGTCAGGAGATCGAGACCATCCTGGCTAATGCAGTGAAAACCTGTCTCTACTACAAATATAAAAAATTAGCCGGGCATGGTGGCACATGCCTGTAGTCCCAGCTATCGGGAGGCTGAGGCAGAAGGATCCCTTGAACCCAGGAGAGGGAGGTTGCAGTGAGCTGAGATCATGCCACTGCACTCCAGCCTGGGCAACACAGAGAGACTCAGCCTCAAAATAAAAAAAAAATAAAAAAAATAAATTTAAGTGGTGGGAAAGAAACCAAAAAAGAAATAAATGAATAAATAAATAAATAAATAAATACAAAAGGTGGAGGCCCTGGGTGGGGTTCAAGCCCAGACTGATCTGACCCACAGCTCCACTGAAGGCTGTTTCCAAAGAGGGAGGCATGCTCTCCAAGCCTGGCTCCGCCCCCATTAGACCCAAATGGGACCGGAGGCTCTCCTTACCCTCTACCCCCAGCTGGCCCAGGGCCTACCTCGAAGAGCCAAATGAGGAGCGTGACGACACCCATGGAGTTCATGAGGCTGCTGTAGTAGCTCAGCAGGGCAGCCCTGCAGCCACGCACCCACAGGTTGAGCTCCTCCGTCTGGTGGTCGTAACTGTAGTGTGCTGAGTTGTTGGTGATCTGATACTGGATGCAGGGCCGTGGCGAGCTAGGATTGCAGCAGCTGAAAGGGACGCCGTCCACCAGGTACCGCCCATCCACGTTGCTCTTGATTCGACTTAAAGGGAAACAGACAGCTGGAGATGGGCTTCCCGGGCTTCTCAACAGGGGCCACTTCCTCCCAACCCCTGCCTCTGGAAACCTAGAATAGTCATTCACTCGCACACTTGGTATATATTTGCTGTGCGCCCGCTACGTGCCAGTCACTGTTCTAGGCGCTGAAGACAAAAAAATGAATAAATGCCCCTGCCTTCCTCGACCTTGAGGTAGACGGTAATCCAAGACCCAAGTCAATAGGGAGTATAGAAATTCACCCAACCACTCTGTGCTGCCAGGCGCTTTCTTGGGGCCATGCCTGGTGCATAGGTGGGTAGGAGGAGCAGCAGGATGGGAGCTGTTGATGGACAAGCATCTGGCTGCCACTGGTGATGCCCACAGCTCCCTCACCAACCTCATCTCCCCCTTACAGGTCACTGGTGGCCAAGGCCCTTTCCAGCCAGGTGTTTCCAGAAGGCCTGCTCAGTCCCAGGGCCTGTGCAGAGGCAGGGGATGGAGACCCGAGGCAGGCACAGTCCTTGCCCTCGGAGGACTCCACCCCCAGCCAGGTGGGAGCTCCTGACTCACCTAAGGGACACAGCTGCAAGCAGGTTCTCCAGGCTGATGGGCGGGGCTCCCAGCATATCTTCTGCACTTCTATATTTTTGTGTGTATTTGTTTAGCGCTTACCATACATTCACACAGGTTCAGAATTCAAAAGGGATCTTTACAGTGAAAAGTCTCCCCTTCCCCTCAGGCAGGCTGGGTATGTTCTACCTGGCCTGGGGGTGATTACCCAGGTGTTTTATGGTCAAAACTCCCTGAGCTGCACACTTAAGATCCGTGCATTTGGCTGGGCATGGTGGCTCATGTCTGTAATCCCAGCACTTTGTAAGGCCGAGGCGGGAGCCCAGGAGTTCAAGGCAGCAGTGAGCTATGATCACACCACTGCTCTCAGCCTGGGCAACAGAACAAGACTTTCTCTAAAAAAAAAAAAAAAAAAAAAAAAAATATATATATATATATATATATATATATATATTTGTGCACTTGACTGGGTGCTTGTCATCTAAATAAAAAGTTGCAGCCAGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGACGAAGATGGGCAGATCTTCATCAAGGTCAAGAGATCGAGACCATCCTGGCCAATATGGTGAAACCCCGTCTCTACTAAAAATACAAAAATTATCTGGGCGTGGTGGCACGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCACGAGAATCACTTGAACCCGGGAGGAAGAGGTTGCAGTGAGCCAAGATCACACCACTGCACTCCAGCCCGTACGATACAGTGAGACCCCGTCTCAAAAAAAAAAAAAAGAAAAAGTTGCATGTAGGCCAAGTGCAGTGGCTCACACCTGTAATCTCAGCACTTTGGGAGGCCCAGGTGGGCAGACGACCTGAGGTCAGGAGTTCAAGACCAGCCTGGGCAACATGGTGAAACCTCATCTCTACAATTAATAAAAATACAGGCCGGGCACGGTGGCTCAAGCCTGTAATCCCAGCACTTTGGGAGGCTGAGGCGGGTGGATCACGAGGTCAGGAGATCGAGACCATCCTGGCTAACACGGTGAAACCCCGTCTCTACTAAATATACAAAAAATTAGCTGGGCGTTGTGGCGGGCTCTTGTAGTCCCAGATACTCGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCAGGGGGCGGAGCTTGCAGTGAGCCGAGATCACGCCATTGTACTCCAGCCTGGGCGACACAGTGAGACTCTGTCTCAAAAAAAATAAAAATAAAAAATAAAAAAATAAAAATAAAAATACAAAAAAATTAGCCAGGCGTTGTGGTGCATGCCTGTAGTCCCAGCTATTCGGGAGGCTGAGGCACGAGAATCACTTGAGCCCGAGACGCAGAGGTTGCAGTGAGCCGAGATCACGCCAGTGAGACTCTGTCTCAAAAAACAAAAAAAAAAGAAAGAAAG
|
TTTACTAACAGGCTCTCATTCAACACCTGAGCTGTGCCTGGCATATGGGTACATGTTTAAGAAATATCTCTGACCACGTGTGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCCGAGGCTGGTGGATTATTTGAGGTCAGGAGTTCAAGACCAGCTTGGCCAACATGGTAAAACCCCATCTCTACTAAAAATACAAAAACTGGCTAGGCGTGGTGGTGCACGCCTGTAATCACAGCTACTTGGGAGGCTGAGACAGGAGAATTGCTTGAACCTGGGAGGTGGAGCTTGCAGTGAGCTGAGATCGTGCCATTGCACTCCAGCCTGGGTGACAGAGCAAGACTTCATCTCAAAAAAAAAGAAAGAAATATCTCTTGGCCAGATGCAGTGGCACACACCTGTAATCCCAGCACTTTGGGGGACCAAGGTAAGAGGATTGCTTGAAGCCAGGAGTTAGAGAGCAGCCTGGGCAACATAGCAAGACCCCATTTCTACAGAAGACTCTACGGAGTATGACTCAGGGCACCTGTTTTCAGCTACTCTGCATGTGCCTATAGTCCTAGCTACTCAGAAGGCTGAGGTGGGAAGAGCCCTGAGCCCAGGAGTTCAAGGCTGCAGTGAGCTACGATCATGCCCCTGCACTCCAGCCTGGGTGACAGGTGAATTTTTCTTCTTGTCTCTAAAAAAAATAATAATAAACAATTTAAAATAATAAAAATAAAAAATGAATATCTCTTTAACCAAAGAGCGAATTCAGCACACTCACCGAGGATTTGCTTACATTGCAAGCCCTATAGCTACAGAGAAACTGAGCGTTGCAGATAAGATGAACCCACACATAACTAGACTAACAGGTAAATGAGGACCAGCATCCCAAGAAGCACAAATCCAAACAGTACCCATTTCCTGAACACCTGCACATGCTGTTCATGTTGCCTCCCAATAGTCCCCAAAGCTAAGTGCTGTCACCCCATATAACAGAGAGGTTAAATGACTAAGACCTCGGTACCAAAAAGTGGGGACACAGGATGAACCTCCAAAACATGCTAACTAAAAGAAGCCAAACGTAATATGGGTCCATTTATATGAAATGTCCAAAATACATAAATCCAGAGAACAGTTGCCAGGGGCTGGAGGGCAGGTTGGGAGGTGGTGACTGCTTCATGGGTGTGAGATTTTCTTGGGGGCTGATGGAAGTCTTTTGGAACTAGGTAGAGGTGCTTGCACAACATTGTAAATCAACTAGATGACACCAAATTGTTTACCTTTTATAAATCTCACCTCAATTAAAAAAACAATTGTCGGTCGGGTGCAGTGCTCACACCTGTAAACCCAGACTTCGGGAGGCCGAGGCAGGCAGATCACGAGGTCAGGAGATCGAGACCATCCTGGCTAATGCAGTGAAAACCTGTCTCTACTACAAATATAAAAAATTAGCCGGGCATGGTGGCACATGCCTGTAGTCCCAGCTATCGGGAGGCTGAGGCAGAAGGATCCCTTGAACCCAGGAGAGGGAGGTTGCAGTGAGCTGAGATCATGCCACTGCACTCCAGCCTGGGCAACACAGAGAGACTCAGCCTCAAAATAAAAAAAAAATAAAAAAAATAAATTTAAGTGGTGGGAAAGAAACCAAAAAAGAAATAAATGAATAAATAAATAAATAAATAAATACAAAAGGTGGAGGCCCTGGGTGGGGTTCAAGCCCAGACTGATCTGACCCACAGCTCCACTGAAGGCTGTTTCCAAAGAGGGAGGCATGCTCTCCAAGCCTGGCTCCGCCCCCATTAGACCCAAATGGGACCGGAGGCTCTCCTTACCCTCTACCCCCAGCTGGCCCAGGGCCTACCTCGAAGAGCCAAATGAGGAGCGTGACGACACCCATGGAGTTCATGAGGCTGCTGTAGTAGCTCAGCAGGGCAGCCCTGCAGCCACGCACCCACAGGTTGAGCTCCTCCGTCTGGTGGTCGTAACTGTAGTGTGCTGAGTTGTTGGTGATCTGATACTGGATGCAGGGCCGTGGCGAGCTAGGATTGCAGCAGCGGAAAGGGACGCCGTCCACCAGGTACCGCCCATCCACGTTGCTCTTGATTCGACTTAAAGGGAAACAGACAGCTGGAGATGGGCTTCCCGGGCTTCTCAACAGGGGCCACTTCCTCCCAACCCCTGCCTCTGGAAACCTAGAATAGTCATTCACTCGCACACTTGGTATATATTTGCTGTGCGCCCGCTACGTGCCAGTCACTGTTCTAGGCGCTGAAGACAAAAAAATGAATAAATGCCCCTGCCTTCCTCGACCTTGAGGTAGACGGTAATCCAAGACCCAAGTCAATAGGGAGTATAGAAATTCACCCAACCACTCTGTGCTGCCAGGCGCTTTCTTGGGGCCATGCCTGGTGCATAGGTGGGTAGGAGGAGCAGCAGGATGGGAGCTGTTGATGGACAAGCATCTGGCTGCCACTGGTGATGCCCACAGCTCCCTCACCAACCTCATCTCCCCCTTACAGGTCACTGGTGGCCAAGGCCCTTTCCAGCCAGGTGTTTCCAGAAGGCCTGCTCAGTCCCAGGGCCTGTGCAGAGGCAGGGGATGGAGACCCGAGGCAGGCACAGTCCTTGCCCTCGGAGGACTCCACCCCCAGCCAGGTGGGAGCTCCTGACTCACCTAAGGGACACAGCTGCAAGCAGGTTCTCCAGGCTGATGGGCGGGGCTCCCAGCATATCTTCTGCACTTCTATATTTTTGTGTGTATTTGTTTAGCGCTTACCATACATTCACACAGGTTCAGAATTCAAAAGGGATCTTTACAGTGAAAAGTCTCCCCTTCCCCTCAGGCAGGCTGGGTATGTTCTACCTGGCCTGGGGGTGATTACCCAGGTGTTTTATGGTCAAAACTCCCTGAGCTGCACACTTAAGATCCGTGCATTTGGCTGGGCATGGTGGCTCATGTCTGTAATCCCAGCACTTTGTAAGGCCGAGGCGGGAGCCCAGGAGTTCAAGGCAGCAGTGAGCTATGATCACACCACTGCTCTCAGCCTGGGCAACAGAACAAGACTTTCTCTAAAAAAAAAAAAAAAAAAAAAAAAAATATATATATATATATATATATATATATATATTTGTGCACTTGACTGGGTGCTTGTCATCTAAATAAAAAGTTGCAGCCAGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGACGAAGATGGGCAGATCTTCATCAAGGTCAAGAGATCGAGACCATCCTGGCCAATATGGTGAAACCCCGTCTCTACTAAAAATACAAAAATTATCTGGGCGTGGTGGCACGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCACGAGAATCACTTGAACCCGGGAGGAAGAGGTTGCAGTGAGCCAAGATCACACCACTGCACTCCAGCCCGTACGATACAGTGAGACCCCGTCTCAAAAAAAAAAAAAAGAAAAAGTTGCATGTAGGCCAAGTGCAGTGGCTCACACCTGTAATCTCAGCACTTTGGGAGGCCCAGGTGGGCAGACGACCTGAGGTCAGGAGTTCAAGACCAGCCTGGGCAACATGGTGAAACCTCATCTCTACAATTAATAAAAATACAGGCCGGGCACGGTGGCTCAAGCCTGTAATCCCAGCACTTTGGGAGGCTGAGGCGGGTGGATCACGAGGTCAGGAGATCGAGACCATCCTGGCTAACACGGTGAAACCCCGTCTCTACTAAATATACAAAAAATTAGCTGGGCGTTGTGGCGGGCTCTTGTAGTCCCAGATACTCGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCAGGGGGCGGAGCTTGCAGTGAGCCGAGATCACGCCATTGTACTCCAGCCTGGGCGACACAGTGAGACTCTGTCTCAAAAAAAATAAAAATAAAAAATAAAAAAATAAAAATAAAAATACAAAAAAATTAGCCAGGCGTTGTGGTGCATGCCTGTAGTCCCAGCTATTCGGGAGGCTGAGGCACGAGAATCACTTGAGCCCGAGACGCAGAGGTTGCAGTGAGCCGAGATCACGCCAGTGAGACTCTGTCTCAAAAAACAAAAAAAAAAGAAAGAAAG
|
Task1_train_10301
|
A mutation found in PRPH2 (peripherin 2) on Chromosome 6 may be clinically relevant. Is it pathogenic or benign, and if the former, which disease is implicated?
|
Pathogenic; PRPH2-related disorder
|
TTACTAACAGGCTCTCATTCAACACCTGAGCTGTGCCTGGCATATGGGTACATGTTTAAGAAATATCTCTGACCACGTGTGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCCGAGGCTGGTGGATTATTTGAGGTCAGGAGTTCAAGACCAGCTTGGCCAACATGGTAAAACCCCATCTCTACTAAAAATACAAAAACTGGCTAGGCGTGGTGGTGCACGCCTGTAATCACAGCTACTTGGGAGGCTGAGACAGGAGAATTGCTTGAACCTGGGAGGTGGAGCTTGCAGTGAGCTGAGATCGTGCCATTGCACTCCAGCCTGGGTGACAGAGCAAGACTTCATCTCAAAAAAAAAGAAAGAAATATCTCTTGGCCAGATGCAGTGGCACACACCTGTAATCCCAGCACTTTGGGGGACCAAGGTAAGAGGATTGCTTGAAGCCAGGAGTTAGAGAGCAGCCTGGGCAACATAGCAAGACCCCATTTCTACAGAAGACTCTACGGAGTATGACTCAGGGCACCTGTTTTCAGCTACTCTGCATGTGCCTATAGTCCTAGCTACTCAGAAGGCTGAGGTGGGAAGAGCCCTGAGCCCAGGAGTTCAAGGCTGCAGTGAGCTACGATCATGCCCCTGCACTCCAGCCTGGGTGACAGGTGAATTTTTCTTCTTGTCTCTAAAAAAAATAATAATAAACAATTTAAAATAATAAAAATAAAAAATGAATATCTCTTTAACCAAAGAGCGAATTCAGCACACTCACCGAGGATTTGCTTACATTGCAAGCCCTATAGCTACAGAGAAACTGAGCGTTGCAGATAAGATGAACCCACACATAACTAGACTAACAGGTAAATGAGGACCAGCATCCCAAGAAGCACAAATCCAAACAGTACCCATTTCCTGAACACCTGCACATGCTGTTCATGTTGCCTCCCAATAGTCCCCAAAGCTAAGTGCTGTCACCCCATATAACAGAGAGGTTAAATGACTAAGACCTCGGTACCAAAAAGTGGGGACACAGGATGAACCTCCAAAACATGCTAACTAAAAGAAGCCAAACGTAATATGGGTCCATTTATATGAAATGTCCAAAATACATAAATCCAGAGAACAGTTGCCAGGGGCTGGAGGGCAGGTTGGGAGGTGGTGACTGCTTCATGGGTGTGAGATTTTCTTGGGGGCTGATGGAAGTCTTTTGGAACTAGGTAGAGGTGCTTGCACAACATTGTAAATCAACTAGATGACACCAAATTGTTTACCTTTTATAAATCTCACCTCAATTAAAAAAACAATTGTCGGTCGGGTGCAGTGCTCACACCTGTAAACCCAGACTTCGGGAGGCCGAGGCAGGCAGATCACGAGGTCAGGAGATCGAGACCATCCTGGCTAATGCAGTGAAAACCTGTCTCTACTACAAATATAAAAAATTAGCCGGGCATGGTGGCACATGCCTGTAGTCCCAGCTATCGGGAGGCTGAGGCAGAAGGATCCCTTGAACCCAGGAGAGGGAGGTTGCAGTGAGCTGAGATCATGCCACTGCACTCCAGCCTGGGCAACACAGAGAGACTCAGCCTCAAAATAAAAAAAAAATAAAAAAAATAAATTTAAGTGGTGGGAAAGAAACCAAAAAAGAAATAAATGAATAAATAAATAAATAAATAAATACAAAAGGTGGAGGCCCTGGGTGGGGTTCAAGCCCAGACTGATCTGACCCACAGCTCCACTGAAGGCTGTTTCCAAAGAGGGAGGCATGCTCTCCAAGCCTGGCTCCGCCCCCATTAGACCCAAATGGGACCGGAGGCTCTCCTTACCCTCTACCCCCAGCTGGCCCAGGGCCTACCTCGAAGAGCCAAATGAGGAGCGTGACGACACCCATGGAGTTCATGAGGCTGCTGTAGTAGCTCAGCAGGGCAGCCCTGCAGCCACGCACCCACAGGTTGAGCTCCTCCGTCTGGTGGTCGTAACTGTAGTGTGCTGAGTTGTTGGTGATCTGATACTGGATGCAGGGCCGTGGCGAGCTAGGATTGCAGCAGCTGAAAGGGACGCCGTCCACCAGGTACCGCCCATCCACGTTGCTCTTGATTCGACTTAAAGGGAAACAGACAGCTGGAGATGGGCTTCCCGGGCTTCTCAACAGGGGCCACTTCCTCCCAACCCCTGCCTCTGGAAACCTAGAATAGTCATTCACTCGCACACTTGGTATATATTTGCTGTGCGCCCGCTACGTGCCAGTCACTGTTCTAGGCGCTGAAGACAAAAAAATGAATAAATGCCCCTGCCTTCCTCGACCTTGAGGTAGACGGTAATCCAAGACCCAAGTCAATAGGGAGTATAGAAATTCACCCAACCACTCTGTGCTGCCAGGCGCTTTCTTGGGGCCATGCCTGGTGCATAGGTGGGTAGGAGGAGCAGCAGGATGGGAGCTGTTGATGGACAAGCATCTGGCTGCCACTGGTGATGCCCACAGCTCCCTCACCAACCTCATCTCCCCCTTACAGGTCACTGGTGGCCAAGGCCCTTTCCAGCCAGGTGTTTCCAGAAGGCCTGCTCAGTCCCAGGGCCTGTGCAGAGGCAGGGGATGGAGACCCGAGGCAGGCACAGTCCTTGCCCTCGGAGGACTCCACCCCCAGCCAGGTGGGAGCTCCTGACTCACCTAAGGGACACAGCTGCAAGCAGGTTCTCCAGGCTGATGGGCGGGGCTCCCAGCATATCTTCTGCACTTCTATATTTTTGTGTGTATTTGTTTAGCGCTTACCATACATTCACACAGGTTCAGAATTCAAAAGGGATCTTTACAGTGAAAAGTCTCCCCTTCCCCTCAGGCAGGCTGGGTATGTTCTACCTGGCCTGGGGGTGATTACCCAGGTGTTTTATGGTCAAAACTCCCTGAGCTGCACACTTAAGATCCGTGCATTTGGCTGGGCATGGTGGCTCATGTCTGTAATCCCAGCACTTTGTAAGGCCGAGGCGGGAGCCCAGGAGTTCAAGGCAGCAGTGAGCTATGATCACACCACTGCTCTCAGCCTGGGCAACAGAACAAGACTTTCTCTAAAAAAAAAAAAAAAAAAAAAAAAAATATATATATATATATATATATATATATATATTTGTGCACTTGACTGGGTGCTTGTCATCTAAATAAAAAGTTGCAGCCAGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGACGAAGATGGGCAGATCTTCATCAAGGTCAAGAGATCGAGACCATCCTGGCCAATATGGTGAAACCCCGTCTCTACTAAAAATACAAAAATTATCTGGGCGTGGTGGCACGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCACGAGAATCACTTGAACCCGGGAGGAAGAGGTTGCAGTGAGCCAAGATCACACCACTGCACTCCAGCCCGTACGATACAGTGAGACCCCGTCTCAAAAAAAAAAAAAAGAAAAAGTTGCATGTAGGCCAAGTGCAGTGGCTCACACCTGTAATCTCAGCACTTTGGGAGGCCCAGGTGGGCAGACGACCTGAGGTCAGGAGTTCAAGACCAGCCTGGGCAACATGGTGAAACCTCATCTCTACAATTAATAAAAATACAGGCCGGGCACGGTGGCTCAAGCCTGTAATCCCAGCACTTTGGGAGGCTGAGGCGGGTGGATCACGAGGTCAGGAGATCGAGACCATCCTGGCTAACACGGTGAAACCCCGTCTCTACTAAATATACAAAAAATTAGCTGGGCGTTGTGGCGGGCTCTTGTAGTCCCAGATACTCGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCAGGGGGCGGAGCTTGCAGTGAGCCGAGATCACGCCATTGTACTCCAGCCTGGGCGACACAGTGAGACTCTGTCTCAAAAAAAATAAAAATAAAAAATAAAAAAATAAAAATAAAAATACAAAAAAATTAGCCAGGCGTTGTGGTGCATGCCTGTAGTCCCAGCTATTCGGGAGGCTGAGGCACGAGAATCACTTGAGCCCGAGACGCAGAGGTTGCAGTGAGCCGAGATCACGCCAGTGAGACTCTGTCTCAAAAAACAAAAAAAAAAGAAAGAAAGG
|
TTACTAACAGGCTCTCATTCAACACCTGAGCTGTGCCTGGCATATGGGTACATGTTTAAGAAATATCTCTGACCACGTGTGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCCGAGGCTGGTGGATTATTTGAGGTCAGGAGTTCAAGACCAGCTTGGCCAACATGGTAAAACCCCATCTCTACTAAAAATACAAAAACTGGCTAGGCGTGGTGGTGCACGCCTGTAATCACAGCTACTTGGGAGGCTGAGACAGGAGAATTGCTTGAACCTGGGAGGTGGAGCTTGCAGTGAGCTGAGATCGTGCCATTGCACTCCAGCCTGGGTGACAGAGCAAGACTTCATCTCAAAAAAAAAGAAAGAAATATCTCTTGGCCAGATGCAGTGGCACACACCTGTAATCCCAGCACTTTGGGGGACCAAGGTAAGAGGATTGCTTGAAGCCAGGAGTTAGAGAGCAGCCTGGGCAACATAGCAAGACCCCATTTCTACAGAAGACTCTACGGAGTATGACTCAGGGCACCTGTTTTCAGCTACTCTGCATGTGCCTATAGTCCTAGCTACTCAGAAGGCTGAGGTGGGAAGAGCCCTGAGCCCAGGAGTTCAAGGCTGCAGTGAGCTACGATCATGCCCCTGCACTCCAGCCTGGGTGACAGGTGAATTTTTCTTCTTGTCTCTAAAAAAAATAATAATAAACAATTTAAAATAATAAAAATAAAAAATGAATATCTCTTTAACCAAAGAGCGAATTCAGCACACTCACCGAGGATTTGCTTACATTGCAAGCCCTATAGCTACAGAGAAACTGAGCGTTGCAGATAAGATGAACCCACACATAACTAGACTAACAGGTAAATGAGGACCAGCATCCCAAGAAGCACAAATCCAAACAGTACCCATTTCCTGAACACCTGCACATGCTGTTCATGTTGCCTCCCAATAGTCCCCAAAGCTAAGTGCTGTCACCCCATATAACAGAGAGGTTAAATGACTAAGACCTCGGTACCAAAAAGTGGGGACACAGGATGAACCTCCAAAACATGCTAACTAAAAGAAGCCAAACGTAATATGGGTCCATTTATATGAAATGTCCAAAATACATAAATCCAGAGAACAGTTGCCAGGGGCTGGAGGGCAGGTTGGGAGGTGGTGACTGCTTCATGGGTGTGAGATTTTCTTGGGGGCTGATGGAAGTCTTTTGGAACTAGGTAGAGGTGCTTGCACAACATTGTAAATCAACTAGATGACACCAAATTGTTTACCTTTTATAAATCTCACCTCAATTAAAAAAACAATTGTCGGTCGGGTGCAGTGCTCACACCTGTAAACCCAGACTTCGGGAGGCCGAGGCAGGCAGATCACGAGGTCAGGAGATCGAGACCATCCTGGCTAATGCAGTGAAAACCTGTCTCTACTACAAATATAAAAAATTAGCCGGGCATGGTGGCACATGCCTGTAGTCCCAGCTATCGGGAGGCTGAGGCAGAAGGATCCCTTGAACCCAGGAGAGGGAGGTTGCAGTGAGCTGAGATCATGCCACTGCACTCCAGCCTGGGCAACACAGAGAGACTCAGCCTCAAAATAAAAAAAAAATAAAAAAAATAAATTTAAGTGGTGGGAAAGAAACCAAAAAAGAAATAAATGAATAAATAAATAAATAAATAAATACAAAAGGTGGAGGCCCTGGGTGGGGTTCAAGCCCAGACTGATCTGACCCACAGCTCCACTGAAGGCTGTTTCCAAAGAGGGAGGCATGCTCTCCAAGCCTGGCTCCGCCCCCATTAGACCCAAATGGGACCGGAGGCTCTCCTTACCCTCTACCCCCAGCTGGCCCAGGGCCTACCTCGAAGAGCCAAATGAGGAGCGTGACGACACCCATGGAGTTCATGAGGCTGCTGTAGTAGCTCAGCAGGGCAGCCCTGCAGCCACGCACCCACAGGTTGAGCTCCTCCGTCTGGTGGTCGTAACTGTAGTGTGCTGAGTTGTTGGTGATCTGATACTGGATGCAGGGCCGTGGCGAGCTAGGATTGCAGCAGCTCAAAGGGACGCCGTCCACCAGGTACCGCCCATCCACGTTGCTCTTGATTCGACTTAAAGGGAAACAGACAGCTGGAGATGGGCTTCCCGGGCTTCTCAACAGGGGCCACTTCCTCCCAACCCCTGCCTCTGGAAACCTAGAATAGTCATTCACTCGCACACTTGGTATATATTTGCTGTGCGCCCGCTACGTGCCAGTCACTGTTCTAGGCGCTGAAGACAAAAAAATGAATAAATGCCCCTGCCTTCCTCGACCTTGAGGTAGACGGTAATCCAAGACCCAAGTCAATAGGGAGTATAGAAATTCACCCAACCACTCTGTGCTGCCAGGCGCTTTCTTGGGGCCATGCCTGGTGCATAGGTGGGTAGGAGGAGCAGCAGGATGGGAGCTGTTGATGGACAAGCATCTGGCTGCCACTGGTGATGCCCACAGCTCCCTCACCAACCTCATCTCCCCCTTACAGGTCACTGGTGGCCAAGGCCCTTTCCAGCCAGGTGTTTCCAGAAGGCCTGCTCAGTCCCAGGGCCTGTGCAGAGGCAGGGGATGGAGACCCGAGGCAGGCACAGTCCTTGCCCTCGGAGGACTCCACCCCCAGCCAGGTGGGAGCTCCTGACTCACCTAAGGGACACAGCTGCAAGCAGGTTCTCCAGGCTGATGGGCGGGGCTCCCAGCATATCTTCTGCACTTCTATATTTTTGTGTGTATTTGTTTAGCGCTTACCATACATTCACACAGGTTCAGAATTCAAAAGGGATCTTTACAGTGAAAAGTCTCCCCTTCCCCTCAGGCAGGCTGGGTATGTTCTACCTGGCCTGGGGGTGATTACCCAGGTGTTTTATGGTCAAAACTCCCTGAGCTGCACACTTAAGATCCGTGCATTTGGCTGGGCATGGTGGCTCATGTCTGTAATCCCAGCACTTTGTAAGGCCGAGGCGGGAGCCCAGGAGTTCAAGGCAGCAGTGAGCTATGATCACACCACTGCTCTCAGCCTGGGCAACAGAACAAGACTTTCTCTAAAAAAAAAAAAAAAAAAAAAAAAAATATATATATATATATATATATATATATATATTTGTGCACTTGACTGGGTGCTTGTCATCTAAATAAAAAGTTGCAGCCAGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGACGAAGATGGGCAGATCTTCATCAAGGTCAAGAGATCGAGACCATCCTGGCCAATATGGTGAAACCCCGTCTCTACTAAAAATACAAAAATTATCTGGGCGTGGTGGCACGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCACGAGAATCACTTGAACCCGGGAGGAAGAGGTTGCAGTGAGCCAAGATCACACCACTGCACTCCAGCCCGTACGATACAGTGAGACCCCGTCTCAAAAAAAAAAAAAAGAAAAAGTTGCATGTAGGCCAAGTGCAGTGGCTCACACCTGTAATCTCAGCACTTTGGGAGGCCCAGGTGGGCAGACGACCTGAGGTCAGGAGTTCAAGACCAGCCTGGGCAACATGGTGAAACCTCATCTCTACAATTAATAAAAATACAGGCCGGGCACGGTGGCTCAAGCCTGTAATCCCAGCACTTTGGGAGGCTGAGGCGGGTGGATCACGAGGTCAGGAGATCGAGACCATCCTGGCTAACACGGTGAAACCCCGTCTCTACTAAATATACAAAAAATTAGCTGGGCGTTGTGGCGGGCTCTTGTAGTCCCAGATACTCGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCAGGGGGCGGAGCTTGCAGTGAGCCGAGATCACGCCATTGTACTCCAGCCTGGGCGACACAGTGAGACTCTGTCTCAAAAAAAATAAAAATAAAAAATAAAAAAATAAAAATAAAAATACAAAAAAATTAGCCAGGCGTTGTGGTGCATGCCTGTAGTCCCAGCTATTCGGGAGGCTGAGGCACGAGAATCACTTGAGCCCGAGACGCAGAGGTTGCAGTGAGCCGAGATCACGCCAGTGAGACTCTGTCTCAAAAAACAAAAAAAAAAGAAAGAAAGG
|
Task1_train_10302
|
This variant affects the gene PRPH2 (peripherin 2) found on Chromosome 6. What is the clinical effect of this variant — benign or pathogenic? State the disease if applicable.
|
Pathogenic; Retinal dystrophy
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TTACTAACAGGCTCTCATTCAACACCTGAGCTGTGCCTGGCATATGGGTACATGTTTAAGAAATATCTCTGACCACGTGTGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCCGAGGCTGGTGGATTATTTGAGGTCAGGAGTTCAAGACCAGCTTGGCCAACATGGTAAAACCCCATCTCTACTAAAAATACAAAAACTGGCTAGGCGTGGTGGTGCACGCCTGTAATCACAGCTACTTGGGAGGCTGAGACAGGAGAATTGCTTGAACCTGGGAGGTGGAGCTTGCAGTGAGCTGAGATCGTGCCATTGCACTCCAGCCTGGGTGACAGAGCAAGACTTCATCTCAAAAAAAAAGAAAGAAATATCTCTTGGCCAGATGCAGTGGCACACACCTGTAATCCCAGCACTTTGGGGGACCAAGGTAAGAGGATTGCTTGAAGCCAGGAGTTAGAGAGCAGCCTGGGCAACATAGCAAGACCCCATTTCTACAGAAGACTCTACGGAGTATGACTCAGGGCACCTGTTTTCAGCTACTCTGCATGTGCCTATAGTCCTAGCTACTCAGAAGGCTGAGGTGGGAAGAGCCCTGAGCCCAGGAGTTCAAGGCTGCAGTGAGCTACGATCATGCCCCTGCACTCCAGCCTGGGTGACAGGTGAATTTTTCTTCTTGTCTCTAAAAAAAATAATAATAAACAATTTAAAATAATAAAAATAAAAAATGAATATCTCTTTAACCAAAGAGCGAATTCAGCACACTCACCGAGGATTTGCTTACATTGCAAGCCCTATAGCTACAGAGAAACTGAGCGTTGCAGATAAGATGAACCCACACATAACTAGACTAACAGGTAAATGAGGACCAGCATCCCAAGAAGCACAAATCCAAACAGTACCCATTTCCTGAACACCTGCACATGCTGTTCATGTTGCCTCCCAATAGTCCCCAAAGCTAAGTGCTGTCACCCCATATAACAGAGAGGTTAAATGACTAAGACCTCGGTACCAAAAAGTGGGGACACAGGATGAACCTCCAAAACATGCTAACTAAAAGAAGCCAAACGTAATATGGGTCCATTTATATGAAATGTCCAAAATACATAAATCCAGAGAACAGTTGCCAGGGGCTGGAGGGCAGGTTGGGAGGTGGTGACTGCTTCATGGGTGTGAGATTTTCTTGGGGGCTGATGGAAGTCTTTTGGAACTAGGTAGAGGTGCTTGCACAACATTGTAAATCAACTAGATGACACCAAATTGTTTACCTTTTATAAATCTCACCTCAATTAAAAAAACAATTGTCGGTCGGGTGCAGTGCTCACACCTGTAAACCCAGACTTCGGGAGGCCGAGGCAGGCAGATCACGAGGTCAGGAGATCGAGACCATCCTGGCTAATGCAGTGAAAACCTGTCTCTACTACAAATATAAAAAATTAGCCGGGCATGGTGGCACATGCCTGTAGTCCCAGCTATCGGGAGGCTGAGGCAGAAGGATCCCTTGAACCCAGGAGAGGGAGGTTGCAGTGAGCTGAGATCATGCCACTGCACTCCAGCCTGGGCAACACAGAGAGACTCAGCCTCAAAATAAAAAAAAAATAAAAAAAATAAATTTAAGTGGTGGGAAAGAAACCAAAAAAGAAATAAATGAATAAATAAATAAATAAATAAATACAAAAGGTGGAGGCCCTGGGTGGGGTTCAAGCCCAGACTGATCTGACCCACAGCTCCACTGAAGGCTGTTTCCAAAGAGGGAGGCATGCTCTCCAAGCCTGGCTCCGCCCCCATTAGACCCAAATGGGACCGGAGGCTCTCCTTACCCTCTACCCCCAGCTGGCCCAGGGCCTACCTCGAAGAGCCAAATGAGGAGCGTGACGACACCCATGGAGTTCATGAGGCTGCTGTAGTAGCTCAGCAGGGCAGCCCTGCAGCCACGCACCCACAGGTTGAGCTCCTCCGTCTGGTGGTCGTAACTGTAGTGTGCTGAGTTGTTGGTGATCTGATACTGGATGCAGGGCCGTGGCGAGCTAGGATTGCAGCAGCTGAAAGGGACGCCGTCCACCAGGTACCGCCCATCCACGTTGCTCTTGATTCGACTTAAAGGGAAACAGACAGCTGGAGATGGGCTTCCCGGGCTTCTCAACAGGGGCCACTTCCTCCCAACCCCTGCCTCTGGAAACCTAGAATAGTCATTCACTCGCACACTTGGTATATATTTGCTGTGCGCCCGCTACGTGCCAGTCACTGTTCTAGGCGCTGAAGACAAAAAAATGAATAAATGCCCCTGCCTTCCTCGACCTTGAGGTAGACGGTAATCCAAGACCCAAGTCAATAGGGAGTATAGAAATTCACCCAACCACTCTGTGCTGCCAGGCGCTTTCTTGGGGCCATGCCTGGTGCATAGGTGGGTAGGAGGAGCAGCAGGATGGGAGCTGTTGATGGACAAGCATCTGGCTGCCACTGGTGATGCCCACAGCTCCCTCACCAACCTCATCTCCCCCTTACAGGTCACTGGTGGCCAAGGCCCTTTCCAGCCAGGTGTTTCCAGAAGGCCTGCTCAGTCCCAGGGCCTGTGCAGAGGCAGGGGATGGAGACCCGAGGCAGGCACAGTCCTTGCCCTCGGAGGACTCCACCCCCAGCCAGGTGGGAGCTCCTGACTCACCTAAGGGACACAGCTGCAAGCAGGTTCTCCAGGCTGATGGGCGGGGCTCCCAGCATATCTTCTGCACTTCTATATTTTTGTGTGTATTTGTTTAGCGCTTACCATACATTCACACAGGTTCAGAATTCAAAAGGGATCTTTACAGTGAAAAGTCTCCCCTTCCCCTCAGGCAGGCTGGGTATGTTCTACCTGGCCTGGGGGTGATTACCCAGGTGTTTTATGGTCAAAACTCCCTGAGCTGCACACTTAAGATCCGTGCATTTGGCTGGGCATGGTGGCTCATGTCTGTAATCCCAGCACTTTGTAAGGCCGAGGCGGGAGCCCAGGAGTTCAAGGCAGCAGTGAGCTATGATCACACCACTGCTCTCAGCCTGGGCAACAGAACAAGACTTTCTCTAAAAAAAAAAAAAAAAAAAAAAAAAATATATATATATATATATATATATATATATATTTGTGCACTTGACTGGGTGCTTGTCATCTAAATAAAAAGTTGCAGCCAGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGACGAAGATGGGCAGATCTTCATCAAGGTCAAGAGATCGAGACCATCCTGGCCAATATGGTGAAACCCCGTCTCTACTAAAAATACAAAAATTATCTGGGCGTGGTGGCACGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCACGAGAATCACTTGAACCCGGGAGGAAGAGGTTGCAGTGAGCCAAGATCACACCACTGCACTCCAGCCCGTACGATACAGTGAGACCCCGTCTCAAAAAAAAAAAAAAGAAAAAGTTGCATGTAGGCCAAGTGCAGTGGCTCACACCTGTAATCTCAGCACTTTGGGAGGCCCAGGTGGGCAGACGACCTGAGGTCAGGAGTTCAAGACCAGCCTGGGCAACATGGTGAAACCTCATCTCTACAATTAATAAAAATACAGGCCGGGCACGGTGGCTCAAGCCTGTAATCCCAGCACTTTGGGAGGCTGAGGCGGGTGGATCACGAGGTCAGGAGATCGAGACCATCCTGGCTAACACGGTGAAACCCCGTCTCTACTAAATATACAAAAAATTAGCTGGGCGTTGTGGCGGGCTCTTGTAGTCCCAGATACTCGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCAGGGGGCGGAGCTTGCAGTGAGCCGAGATCACGCCATTGTACTCCAGCCTGGGCGACACAGTGAGACTCTGTCTCAAAAAAAATAAAAATAAAAAATAAAAAAATAAAAATAAAAATACAAAAAAATTAGCCAGGCGTTGTGGTGCATGCCTGTAGTCCCAGCTATTCGGGAGGCTGAGGCACGAGAATCACTTGAGCCCGAGACGCAGAGGTTGCAGTGAGCCGAGATCACGCCAGTGAGACTCTGTCTCAAAAAACAAAAAAAAAAGAAAGAAAGG
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TTACTAACAGGCTCTCATTCAACACCTGAGCTGTGCCTGGCATATGGGTACATGTTTAAGAAATATCTCTGACCACGTGTGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCCGAGGCTGGTGGATTATTTGAGGTCAGGAGTTCAAGACCAGCTTGGCCAACATGGTAAAACCCCATCTCTACTAAAAATACAAAAACTGGCTAGGCGTGGTGGTGCACGCCTGTAATCACAGCTACTTGGGAGGCTGAGACAGGAGAATTGCTTGAACCTGGGAGGTGGAGCTTGCAGTGAGCTGAGATCGTGCCATTGCACTCCAGCCTGGGTGACAGAGCAAGACTTCATCTCAAAAAAAAAGAAAGAAATATCTCTTGGCCAGATGCAGTGGCACACACCTGTAATCCCAGCACTTTGGGGGACCAAGGTAAGAGGATTGCTTGAAGCCAGGAGTTAGAGAGCAGCCTGGGCAACATAGCAAGACCCCATTTCTACAGAAGACTCTACGGAGTATGACTCAGGGCACCTGTTTTCAGCTACTCTGCATGTGCCTATAGTCCTAGCTACTCAGAAGGCTGAGGTGGGAAGAGCCCTGAGCCCAGGAGTTCAAGGCTGCAGTGAGCTACGATCATGCCCCTGCACTCCAGCCTGGGTGACAGGTGAATTTTTCTTCTTGTCTCTAAAAAAAATAATAATAAACAATTTAAAATAATAAAAATAAAAAATGAATATCTCTTTAACCAAAGAGCGAATTCAGCACACTCACCGAGGATTTGCTTACATTGCAAGCCCTATAGCTACAGAGAAACTGAGCGTTGCAGATAAGATGAACCCACACATAACTAGACTAACAGGTAAATGAGGACCAGCATCCCAAGAAGCACAAATCCAAACAGTACCCATTTCCTGAACACCTGCACATGCTGTTCATGTTGCCTCCCAATAGTCCCCAAAGCTAAGTGCTGTCACCCCATATAACAGAGAGGTTAAATGACTAAGACCTCGGTACCAAAAAGTGGGGACACAGGATGAACCTCCAAAACATGCTAACTAAAAGAAGCCAAACGTAATATGGGTCCATTTATATGAAATGTCCAAAATACATAAATCCAGAGAACAGTTGCCAGGGGCTGGAGGGCAGGTTGGGAGGTGGTGACTGCTTCATGGGTGTGAGATTTTCTTGGGGGCTGATGGAAGTCTTTTGGAACTAGGTAGAGGTGCTTGCACAACATTGTAAATCAACTAGATGACACCAAATTGTTTACCTTTTATAAATCTCACCTCAATTAAAAAAACAATTGTCGGTCGGGTGCAGTGCTCACACCTGTAAACCCAGACTTCGGGAGGCCGAGGCAGGCAGATCACGAGGTCAGGAGATCGAGACCATCCTGGCTAATGCAGTGAAAACCTGTCTCTACTACAAATATAAAAAATTAGCCGGGCATGGTGGCACATGCCTGTAGTCCCAGCTATCGGGAGGCTGAGGCAGAAGGATCCCTTGAACCCAGGAGAGGGAGGTTGCAGTGAGCTGAGATCATGCCACTGCACTCCAGCCTGGGCAACACAGAGAGACTCAGCCTCAAAATAAAAAAAAAATAAAAAAAATAAATTTAAGTGGTGGGAAAGAAACCAAAAAAGAAATAAATGAATAAATAAATAAATAAATAAATACAAAAGGTGGAGGCCCTGGGTGGGGTTCAAGCCCAGACTGATCTGACCCACAGCTCCACTGAAGGCTGTTTCCAAAGAGGGAGGCATGCTCTCCAAGCCTGGCTCCGCCCCCATTAGACCCAAATGGGACCGGAGGCTCTCCTTACCCTCTACCCCCAGCTGGCCCAGGGCCTACCTCGAAGAGCCAAATGAGGAGCGTGACGACACCCATGGAGTTCATGAGGCTGCTGTAGTAGCTCAGCAGGGCAGCCCTGCAGCCACGCACCCACAGGTTGAGCTCCTCCGTCTGGTGGTCGTAACTGTAGTGTGCTGAGTTGTTGGTGATCTGATACTGGATGCAGGGCCGTGGCGAGCTAGGATTGCAGCAGCTCAAAGGGACGCCGTCCACCAGGTACCGCCCATCCACGTTGCTCTTGATTCGACTTAAAGGGAAACAGACAGCTGGAGATGGGCTTCCCGGGCTTCTCAACAGGGGCCACTTCCTCCCAACCCCTGCCTCTGGAAACCTAGAATAGTCATTCACTCGCACACTTGGTATATATTTGCTGTGCGCCCGCTACGTGCCAGTCACTGTTCTAGGCGCTGAAGACAAAAAAATGAATAAATGCCCCTGCCTTCCTCGACCTTGAGGTAGACGGTAATCCAAGACCCAAGTCAATAGGGAGTATAGAAATTCACCCAACCACTCTGTGCTGCCAGGCGCTTTCTTGGGGCCATGCCTGGTGCATAGGTGGGTAGGAGGAGCAGCAGGATGGGAGCTGTTGATGGACAAGCATCTGGCTGCCACTGGTGATGCCCACAGCTCCCTCACCAACCTCATCTCCCCCTTACAGGTCACTGGTGGCCAAGGCCCTTTCCAGCCAGGTGTTTCCAGAAGGCCTGCTCAGTCCCAGGGCCTGTGCAGAGGCAGGGGATGGAGACCCGAGGCAGGCACAGTCCTTGCCCTCGGAGGACTCCACCCCCAGCCAGGTGGGAGCTCCTGACTCACCTAAGGGACACAGCTGCAAGCAGGTTCTCCAGGCTGATGGGCGGGGCTCCCAGCATATCTTCTGCACTTCTATATTTTTGTGTGTATTTGTTTAGCGCTTACCATACATTCACACAGGTTCAGAATTCAAAAGGGATCTTTACAGTGAAAAGTCTCCCCTTCCCCTCAGGCAGGCTGGGTATGTTCTACCTGGCCTGGGGGTGATTACCCAGGTGTTTTATGGTCAAAACTCCCTGAGCTGCACACTTAAGATCCGTGCATTTGGCTGGGCATGGTGGCTCATGTCTGTAATCCCAGCACTTTGTAAGGCCGAGGCGGGAGCCCAGGAGTTCAAGGCAGCAGTGAGCTATGATCACACCACTGCTCTCAGCCTGGGCAACAGAACAAGACTTTCTCTAAAAAAAAAAAAAAAAAAAAAAAAAATATATATATATATATATATATATATATATATTTGTGCACTTGACTGGGTGCTTGTCATCTAAATAAAAAGTTGCAGCCAGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGACGAAGATGGGCAGATCTTCATCAAGGTCAAGAGATCGAGACCATCCTGGCCAATATGGTGAAACCCCGTCTCTACTAAAAATACAAAAATTATCTGGGCGTGGTGGCACGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCACGAGAATCACTTGAACCCGGGAGGAAGAGGTTGCAGTGAGCCAAGATCACACCACTGCACTCCAGCCCGTACGATACAGTGAGACCCCGTCTCAAAAAAAAAAAAAAGAAAAAGTTGCATGTAGGCCAAGTGCAGTGGCTCACACCTGTAATCTCAGCACTTTGGGAGGCCCAGGTGGGCAGACGACCTGAGGTCAGGAGTTCAAGACCAGCCTGGGCAACATGGTGAAACCTCATCTCTACAATTAATAAAAATACAGGCCGGGCACGGTGGCTCAAGCCTGTAATCCCAGCACTTTGGGAGGCTGAGGCGGGTGGATCACGAGGTCAGGAGATCGAGACCATCCTGGCTAACACGGTGAAACCCCGTCTCTACTAAATATACAAAAAATTAGCTGGGCGTTGTGGCGGGCTCTTGTAGTCCCAGATACTCGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCAGGGGGCGGAGCTTGCAGTGAGCCGAGATCACGCCATTGTACTCCAGCCTGGGCGACACAGTGAGACTCTGTCTCAAAAAAAATAAAAATAAAAAATAAAAAAATAAAAATAAAAATACAAAAAAATTAGCCAGGCGTTGTGGTGCATGCCTGTAGTCCCAGCTATTCGGGAGGCTGAGGCACGAGAATCACTTGAGCCCGAGACGCAGAGGTTGCAGTGAGCCGAGATCACGCCAGTGAGACTCTGTCTCAAAAAACAAAAAAAAAAGAAAGAAAGG
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Task1_train_10303
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The gene PRPH2 (peripherin 2), on Chromosome 6, contains a mutation. Does this mutation cause a disorder, or is it a benign change?
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Pathogenic; PRPH2-related disorder
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TTACTAACAGGCTCTCATTCAACACCTGAGCTGTGCCTGGCATATGGGTACATGTTTAAGAAATATCTCTGACCACGTGTGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCCGAGGCTGGTGGATTATTTGAGGTCAGGAGTTCAAGACCAGCTTGGCCAACATGGTAAAACCCCATCTCTACTAAAAATACAAAAACTGGCTAGGCGTGGTGGTGCACGCCTGTAATCACAGCTACTTGGGAGGCTGAGACAGGAGAATTGCTTGAACCTGGGAGGTGGAGCTTGCAGTGAGCTGAGATCGTGCCATTGCACTCCAGCCTGGGTGACAGAGCAAGACTTCATCTCAAAAAAAAAGAAAGAAATATCTCTTGGCCAGATGCAGTGGCACACACCTGTAATCCCAGCACTTTGGGGGACCAAGGTAAGAGGATTGCTTGAAGCCAGGAGTTAGAGAGCAGCCTGGGCAACATAGCAAGACCCCATTTCTACAGAAGACTCTACGGAGTATGACTCAGGGCACCTGTTTTCAGCTACTCTGCATGTGCCTATAGTCCTAGCTACTCAGAAGGCTGAGGTGGGAAGAGCCCTGAGCCCAGGAGTTCAAGGCTGCAGTGAGCTACGATCATGCCCCTGCACTCCAGCCTGGGTGACAGGTGAATTTTTCTTCTTGTCTCTAAAAAAAATAATAATAAACAATTTAAAATAATAAAAATAAAAAATGAATATCTCTTTAACCAAAGAGCGAATTCAGCACACTCACCGAGGATTTGCTTACATTGCAAGCCCTATAGCTACAGAGAAACTGAGCGTTGCAGATAAGATGAACCCACACATAACTAGACTAACAGGTAAATGAGGACCAGCATCCCAAGAAGCACAAATCCAAACAGTACCCATTTCCTGAACACCTGCACATGCTGTTCATGTTGCCTCCCAATAGTCCCCAAAGCTAAGTGCTGTCACCCCATATAACAGAGAGGTTAAATGACTAAGACCTCGGTACCAAAAAGTGGGGACACAGGATGAACCTCCAAAACATGCTAACTAAAAGAAGCCAAACGTAATATGGGTCCATTTATATGAAATGTCCAAAATACATAAATCCAGAGAACAGTTGCCAGGGGCTGGAGGGCAGGTTGGGAGGTGGTGACTGCTTCATGGGTGTGAGATTTTCTTGGGGGCTGATGGAAGTCTTTTGGAACTAGGTAGAGGTGCTTGCACAACATTGTAAATCAACTAGATGACACCAAATTGTTTACCTTTTATAAATCTCACCTCAATTAAAAAAACAATTGTCGGTCGGGTGCAGTGCTCACACCTGTAAACCCAGACTTCGGGAGGCCGAGGCAGGCAGATCACGAGGTCAGGAGATCGAGACCATCCTGGCTAATGCAGTGAAAACCTGTCTCTACTACAAATATAAAAAATTAGCCGGGCATGGTGGCACATGCCTGTAGTCCCAGCTATCGGGAGGCTGAGGCAGAAGGATCCCTTGAACCCAGGAGAGGGAGGTTGCAGTGAGCTGAGATCATGCCACTGCACTCCAGCCTGGGCAACACAGAGAGACTCAGCCTCAAAATAAAAAAAAAATAAAAAAAATAAATTTAAGTGGTGGGAAAGAAACCAAAAAAGAAATAAATGAATAAATAAATAAATAAATAAATACAAAAGGTGGAGGCCCTGGGTGGGGTTCAAGCCCAGACTGATCTGACCCACAGCTCCACTGAAGGCTGTTTCCAAAGAGGGAGGCATGCTCTCCAAGCCTGGCTCCGCCCCCATTAGACCCAAATGGGACCGGAGGCTCTCCTTACCCTCTACCCCCAGCTGGCCCAGGGCCTACCTCGAAGAGCCAAATGAGGAGCGTGACGACACCCATGGAGTTCATGAGGCTGCTGTAGTAGCTCAGCAGGGCAGCCCTGCAGCCACGCACCCACAGGTTGAGCTCCTCCGTCTGGTGGTCGTAACTGTAGTGTGCTGAGTTGTTGGTGATCTGATACTGGATGCAGGGCCGTGGCGAGCTAGGATTGCAGCAGCTGAAAGGGACGCCGTCCACCAGGTACCGCCCATCCACGTTGCTCTTGATTCGACTTAAAGGGAAACAGACAGCTGGAGATGGGCTTCCCGGGCTTCTCAACAGGGGCCACTTCCTCCCAACCCCTGCCTCTGGAAACCTAGAATAGTCATTCACTCGCACACTTGGTATATATTTGCTGTGCGCCCGCTACGTGCCAGTCACTGTTCTAGGCGCTGAAGACAAAAAAATGAATAAATGCCCCTGCCTTCCTCGACCTTGAGGTAGACGGTAATCCAAGACCCAAGTCAATAGGGAGTATAGAAATTCACCCAACCACTCTGTGCTGCCAGGCGCTTTCTTGGGGCCATGCCTGGTGCATAGGTGGGTAGGAGGAGCAGCAGGATGGGAGCTGTTGATGGACAAGCATCTGGCTGCCACTGGTGATGCCCACAGCTCCCTCACCAACCTCATCTCCCCCTTACAGGTCACTGGTGGCCAAGGCCCTTTCCAGCCAGGTGTTTCCAGAAGGCCTGCTCAGTCCCAGGGCCTGTGCAGAGGCAGGGGATGGAGACCCGAGGCAGGCACAGTCCTTGCCCTCGGAGGACTCCACCCCCAGCCAGGTGGGAGCTCCTGACTCACCTAAGGGACACAGCTGCAAGCAGGTTCTCCAGGCTGATGGGCGGGGCTCCCAGCATATCTTCTGCACTTCTATATTTTTGTGTGTATTTGTTTAGCGCTTACCATACATTCACACAGGTTCAGAATTCAAAAGGGATCTTTACAGTGAAAAGTCTCCCCTTCCCCTCAGGCAGGCTGGGTATGTTCTACCTGGCCTGGGGGTGATTACCCAGGTGTTTTATGGTCAAAACTCCCTGAGCTGCACACTTAAGATCCGTGCATTTGGCTGGGCATGGTGGCTCATGTCTGTAATCCCAGCACTTTGTAAGGCCGAGGCGGGAGCCCAGGAGTTCAAGGCAGCAGTGAGCTATGATCACACCACTGCTCTCAGCCTGGGCAACAGAACAAGACTTTCTCTAAAAAAAAAAAAAAAAAAAAAAAAAATATATATATATATATATATATATATATATATTTGTGCACTTGACTGGGTGCTTGTCATCTAAATAAAAAGTTGCAGCCAGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGACGAAGATGGGCAGATCTTCATCAAGGTCAAGAGATCGAGACCATCCTGGCCAATATGGTGAAACCCCGTCTCTACTAAAAATACAAAAATTATCTGGGCGTGGTGGCACGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCACGAGAATCACTTGAACCCGGGAGGAAGAGGTTGCAGTGAGCCAAGATCACACCACTGCACTCCAGCCCGTACGATACAGTGAGACCCCGTCTCAAAAAAAAAAAAAAGAAAAAGTTGCATGTAGGCCAAGTGCAGTGGCTCACACCTGTAATCTCAGCACTTTGGGAGGCCCAGGTGGGCAGACGACCTGAGGTCAGGAGTTCAAGACCAGCCTGGGCAACATGGTGAAACCTCATCTCTACAATTAATAAAAATACAGGCCGGGCACGGTGGCTCAAGCCTGTAATCCCAGCACTTTGGGAGGCTGAGGCGGGTGGATCACGAGGTCAGGAGATCGAGACCATCCTGGCTAACACGGTGAAACCCCGTCTCTACTAAATATACAAAAAATTAGCTGGGCGTTGTGGCGGGCTCTTGTAGTCCCAGATACTCGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCAGGGGGCGGAGCTTGCAGTGAGCCGAGATCACGCCATTGTACTCCAGCCTGGGCGACACAGTGAGACTCTGTCTCAAAAAAAATAAAAATAAAAAATAAAAAAATAAAAATAAAAATACAAAAAAATTAGCCAGGCGTTGTGGTGCATGCCTGTAGTCCCAGCTATTCGGGAGGCTGAGGCACGAGAATCACTTGAGCCCGAGACGCAGAGGTTGCAGTGAGCCGAGATCACGCCAGTGAGACTCTGTCTCAAAAAACAAAAAAAAAAGAAAGAAAGG
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TTACTAACAGGCTCTCATTCAACACCTGAGCTGTGCCTGGCATATGGGTACATGTTTAAGAAATATCTCTGACCACGTGTGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCCGAGGCTGGTGGATTATTTGAGGTCAGGAGTTCAAGACCAGCTTGGCCAACATGGTAAAACCCCATCTCTACTAAAAATACAAAAACTGGCTAGGCGTGGTGGTGCACGCCTGTAATCACAGCTACTTGGGAGGCTGAGACAGGAGAATTGCTTGAACCTGGGAGGTGGAGCTTGCAGTGAGCTGAGATCGTGCCATTGCACTCCAGCCTGGGTGACAGAGCAAGACTTCATCTCAAAAAAAAAGAAAGAAATATCTCTTGGCCAGATGCAGTGGCACACACCTGTAATCCCAGCACTTTGGGGGACCAAGGTAAGAGGATTGCTTGAAGCCAGGAGTTAGAGAGCAGCCTGGGCAACATAGCAAGACCCCATTTCTACAGAAGACTCTACGGAGTATGACTCAGGGCACCTGTTTTCAGCTACTCTGCATGTGCCTATAGTCCTAGCTACTCAGAAGGCTGAGGTGGGAAGAGCCCTGAGCCCAGGAGTTCAAGGCTGCAGTGAGCTACGATCATGCCCCTGCACTCCAGCCTGGGTGACAGGTGAATTTTTCTTCTTGTCTCTAAAAAAAATAATAATAAACAATTTAAAATAATAAAAATAAAAAATGAATATCTCTTTAACCAAAGAGCGAATTCAGCACACTCACCGAGGATTTGCTTACATTGCAAGCCCTATAGCTACAGAGAAACTGAGCGTTGCAGATAAGATGAACCCACACATAACTAGACTAACAGGTAAATGAGGACCAGCATCCCAAGAAGCACAAATCCAAACAGTACCCATTTCCTGAACACCTGCACATGCTGTTCATGTTGCCTCCCAATAGTCCCCAAAGCTAAGTGCTGTCACCCCATATAACAGAGAGGTTAAATGACTAAGACCTCGGTACCAAAAAGTGGGGACACAGGATGAACCTCCAAAACATGCTAACTAAAAGAAGCCAAACGTAATATGGGTCCATTTATATGAAATGTCCAAAATACATAAATCCAGAGAACAGTTGCCAGGGGCTGGAGGGCAGGTTGGGAGGTGGTGACTGCTTCATGGGTGTGAGATTTTCTTGGGGGCTGATGGAAGTCTTTTGGAACTAGGTAGAGGTGCTTGCACAACATTGTAAATCAACTAGATGACACCAAATTGTTTACCTTTTATAAATCTCACCTCAATTAAAAAAACAATTGTCGGTCGGGTGCAGTGCTCACACCTGTAAACCCAGACTTCGGGAGGCCGAGGCAGGCAGATCACGAGGTCAGGAGATCGAGACCATCCTGGCTAATGCAGTGAAAACCTGTCTCTACTACAAATATAAAAAATTAGCCGGGCATGGTGGCACATGCCTGTAGTCCCAGCTATCGGGAGGCTGAGGCAGAAGGATCCCTTGAACCCAGGAGAGGGAGGTTGCAGTGAGCTGAGATCATGCCACTGCACTCCAGCCTGGGCAACACAGAGAGACTCAGCCTCAAAATAAAAAAAAAATAAAAAAAATAAATTTAAGTGGTGGGAAAGAAACCAAAAAAGAAATAAATGAATAAATAAATAAATAAATAAATACAAAAGGTGGAGGCCCTGGGTGGGGTTCAAGCCCAGACTGATCTGACCCACAGCTCCACTGAAGGCTGTTTCCAAAGAGGGAGGCATGCTCTCCAAGCCTGGCTCCGCCCCCATTAGACCCAAATGGGACCGGAGGCTCTCCTTACCCTCTACCCCCAGCTGGCCCAGGGCCTACCTCGAAGAGCCAAATGAGGAGCGTGACGACACCCATGGAGTTCATGAGGCTGCTGTAGTAGCTCAGCAGGGCAGCCCTGCAGCCACGCACCCACAGGTTGAGCTCCTCCGTCTGGTGGTCGTAACTGTAGTGTGCTGAGTTGTTGGTGATCTGATACTGGATGCAGGGCCGTGGCGAGCTAGGATTGCAGCAGCTTAAAGGGACGCCGTCCACCAGGTACCGCCCATCCACGTTGCTCTTGATTCGACTTAAAGGGAAACAGACAGCTGGAGATGGGCTTCCCGGGCTTCTCAACAGGGGCCACTTCCTCCCAACCCCTGCCTCTGGAAACCTAGAATAGTCATTCACTCGCACACTTGGTATATATTTGCTGTGCGCCCGCTACGTGCCAGTCACTGTTCTAGGCGCTGAAGACAAAAAAATGAATAAATGCCCCTGCCTTCCTCGACCTTGAGGTAGACGGTAATCCAAGACCCAAGTCAATAGGGAGTATAGAAATTCACCCAACCACTCTGTGCTGCCAGGCGCTTTCTTGGGGCCATGCCTGGTGCATAGGTGGGTAGGAGGAGCAGCAGGATGGGAGCTGTTGATGGACAAGCATCTGGCTGCCACTGGTGATGCCCACAGCTCCCTCACCAACCTCATCTCCCCCTTACAGGTCACTGGTGGCCAAGGCCCTTTCCAGCCAGGTGTTTCCAGAAGGCCTGCTCAGTCCCAGGGCCTGTGCAGAGGCAGGGGATGGAGACCCGAGGCAGGCACAGTCCTTGCCCTCGGAGGACTCCACCCCCAGCCAGGTGGGAGCTCCTGACTCACCTAAGGGACACAGCTGCAAGCAGGTTCTCCAGGCTGATGGGCGGGGCTCCCAGCATATCTTCTGCACTTCTATATTTTTGTGTGTATTTGTTTAGCGCTTACCATACATTCACACAGGTTCAGAATTCAAAAGGGATCTTTACAGTGAAAAGTCTCCCCTTCCCCTCAGGCAGGCTGGGTATGTTCTACCTGGCCTGGGGGTGATTACCCAGGTGTTTTATGGTCAAAACTCCCTGAGCTGCACACTTAAGATCCGTGCATTTGGCTGGGCATGGTGGCTCATGTCTGTAATCCCAGCACTTTGTAAGGCCGAGGCGGGAGCCCAGGAGTTCAAGGCAGCAGTGAGCTATGATCACACCACTGCTCTCAGCCTGGGCAACAGAACAAGACTTTCTCTAAAAAAAAAAAAAAAAAAAAAAAAAATATATATATATATATATATATATATATATATTTGTGCACTTGACTGGGTGCTTGTCATCTAAATAAAAAGTTGCAGCCAGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGACGAAGATGGGCAGATCTTCATCAAGGTCAAGAGATCGAGACCATCCTGGCCAATATGGTGAAACCCCGTCTCTACTAAAAATACAAAAATTATCTGGGCGTGGTGGCACGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCACGAGAATCACTTGAACCCGGGAGGAAGAGGTTGCAGTGAGCCAAGATCACACCACTGCACTCCAGCCCGTACGATACAGTGAGACCCCGTCTCAAAAAAAAAAAAAAGAAAAAGTTGCATGTAGGCCAAGTGCAGTGGCTCACACCTGTAATCTCAGCACTTTGGGAGGCCCAGGTGGGCAGACGACCTGAGGTCAGGAGTTCAAGACCAGCCTGGGCAACATGGTGAAACCTCATCTCTACAATTAATAAAAATACAGGCCGGGCACGGTGGCTCAAGCCTGTAATCCCAGCACTTTGGGAGGCTGAGGCGGGTGGATCACGAGGTCAGGAGATCGAGACCATCCTGGCTAACACGGTGAAACCCCGTCTCTACTAAATATACAAAAAATTAGCTGGGCGTTGTGGCGGGCTCTTGTAGTCCCAGATACTCGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCAGGGGGCGGAGCTTGCAGTGAGCCGAGATCACGCCATTGTACTCCAGCCTGGGCGACACAGTGAGACTCTGTCTCAAAAAAAATAAAAATAAAAAATAAAAAAATAAAAATAAAAATACAAAAAAATTAGCCAGGCGTTGTGGTGCATGCCTGTAGTCCCAGCTATTCGGGAGGCTGAGGCACGAGAATCACTTGAGCCCGAGACGCAGAGGTTGCAGTGAGCCGAGATCACGCCAGTGAGACTCTGTCTCAAAAAACAAAAAAAAAAGAAAGAAAGG
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Task1_train_10304
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This sequence change occurs on Chromosome 6, altering PRPH2 (peripherin 2). What is the medical significance of this variant — is it benign or linked to a disease?
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Pathogenic; Retinal dystrophy
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TAACAGGCTCTCATTCAACACCTGAGCTGTGCCTGGCATATGGGTACATGTTTAAGAAATATCTCTGACCACGTGTGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCCGAGGCTGGTGGATTATTTGAGGTCAGGAGTTCAAGACCAGCTTGGCCAACATGGTAAAACCCCATCTCTACTAAAAATACAAAAACTGGCTAGGCGTGGTGGTGCACGCCTGTAATCACAGCTACTTGGGAGGCTGAGACAGGAGAATTGCTTGAACCTGGGAGGTGGAGCTTGCAGTGAGCTGAGATCGTGCCATTGCACTCCAGCCTGGGTGACAGAGCAAGACTTCATCTCAAAAAAAAAGAAAGAAATATCTCTTGGCCAGATGCAGTGGCACACACCTGTAATCCCAGCACTTTGGGGGACCAAGGTAAGAGGATTGCTTGAAGCCAGGAGTTAGAGAGCAGCCTGGGCAACATAGCAAGACCCCATTTCTACAGAAGACTCTACGGAGTATGACTCAGGGCACCTGTTTTCAGCTACTCTGCATGTGCCTATAGTCCTAGCTACTCAGAAGGCTGAGGTGGGAAGAGCCCTGAGCCCAGGAGTTCAAGGCTGCAGTGAGCTACGATCATGCCCCTGCACTCCAGCCTGGGTGACAGGTGAATTTTTCTTCTTGTCTCTAAAAAAAATAATAATAAACAATTTAAAATAATAAAAATAAAAAATGAATATCTCTTTAACCAAAGAGCGAATTCAGCACACTCACCGAGGATTTGCTTACATTGCAAGCCCTATAGCTACAGAGAAACTGAGCGTTGCAGATAAGATGAACCCACACATAACTAGACTAACAGGTAAATGAGGACCAGCATCCCAAGAAGCACAAATCCAAACAGTACCCATTTCCTGAACACCTGCACATGCTGTTCATGTTGCCTCCCAATAGTCCCCAAAGCTAAGTGCTGTCACCCCATATAACAGAGAGGTTAAATGACTAAGACCTCGGTACCAAAAAGTGGGGACACAGGATGAACCTCCAAAACATGCTAACTAAAAGAAGCCAAACGTAATATGGGTCCATTTATATGAAATGTCCAAAATACATAAATCCAGAGAACAGTTGCCAGGGGCTGGAGGGCAGGTTGGGAGGTGGTGACTGCTTCATGGGTGTGAGATTTTCTTGGGGGCTGATGGAAGTCTTTTGGAACTAGGTAGAGGTGCTTGCACAACATTGTAAATCAACTAGATGACACCAAATTGTTTACCTTTTATAAATCTCACCTCAATTAAAAAAACAATTGTCGGTCGGGTGCAGTGCTCACACCTGTAAACCCAGACTTCGGGAGGCCGAGGCAGGCAGATCACGAGGTCAGGAGATCGAGACCATCCTGGCTAATGCAGTGAAAACCTGTCTCTACTACAAATATAAAAAATTAGCCGGGCATGGTGGCACATGCCTGTAGTCCCAGCTATCGGGAGGCTGAGGCAGAAGGATCCCTTGAACCCAGGAGAGGGAGGTTGCAGTGAGCTGAGATCATGCCACTGCACTCCAGCCTGGGCAACACAGAGAGACTCAGCCTCAAAATAAAAAAAAAATAAAAAAAATAAATTTAAGTGGTGGGAAAGAAACCAAAAAAGAAATAAATGAATAAATAAATAAATAAATAAATACAAAAGGTGGAGGCCCTGGGTGGGGTTCAAGCCCAGACTGATCTGACCCACAGCTCCACTGAAGGCTGTTTCCAAAGAGGGAGGCATGCTCTCCAAGCCTGGCTCCGCCCCCATTAGACCCAAATGGGACCGGAGGCTCTCCTTACCCTCTACCCCCAGCTGGCCCAGGGCCTACCTCGAAGAGCCAAATGAGGAGCGTGACGACACCCATGGAGTTCATGAGGCTGCTGTAGTAGCTCAGCAGGGCAGCCCTGCAGCCACGCACCCACAGGTTGAGCTCCTCCGTCTGGTGGTCGTAACTGTAGTGTGCTGAGTTGTTGGTGATCTGATACTGGATGCAGGGCCGTGGCGAGCTAGGATTGCAGCAGCTGAAAGGGACGCCGTCCACCAGGTACCGCCCATCCACGTTGCTCTTGATTCGACTTAAAGGGAAACAGACAGCTGGAGATGGGCTTCCCGGGCTTCTCAACAGGGGCCACTTCCTCCCAACCCCTGCCTCTGGAAACCTAGAATAGTCATTCACTCGCACACTTGGTATATATTTGCTGTGCGCCCGCTACGTGCCAGTCACTGTTCTAGGCGCTGAAGACAAAAAAATGAATAAATGCCCCTGCCTTCCTCGACCTTGAGGTAGACGGTAATCCAAGACCCAAGTCAATAGGGAGTATAGAAATTCACCCAACCACTCTGTGCTGCCAGGCGCTTTCTTGGGGCCATGCCTGGTGCATAGGTGGGTAGGAGGAGCAGCAGGATGGGAGCTGTTGATGGACAAGCATCTGGCTGCCACTGGTGATGCCCACAGCTCCCTCACCAACCTCATCTCCCCCTTACAGGTCACTGGTGGCCAAGGCCCTTTCCAGCCAGGTGTTTCCAGAAGGCCTGCTCAGTCCCAGGGCCTGTGCAGAGGCAGGGGATGGAGACCCGAGGCAGGCACAGTCCTTGCCCTCGGAGGACTCCACCCCCAGCCAGGTGGGAGCTCCTGACTCACCTAAGGGACACAGCTGCAAGCAGGTTCTCCAGGCTGATGGGCGGGGCTCCCAGCATATCTTCTGCACTTCTATATTTTTGTGTGTATTTGTTTAGCGCTTACCATACATTCACACAGGTTCAGAATTCAAAAGGGATCTTTACAGTGAAAAGTCTCCCCTTCCCCTCAGGCAGGCTGGGTATGTTCTACCTGGCCTGGGGGTGATTACCCAGGTGTTTTATGGTCAAAACTCCCTGAGCTGCACACTTAAGATCCGTGCATTTGGCTGGGCATGGTGGCTCATGTCTGTAATCCCAGCACTTTGTAAGGCCGAGGCGGGAGCCCAGGAGTTCAAGGCAGCAGTGAGCTATGATCACACCACTGCTCTCAGCCTGGGCAACAGAACAAGACTTTCTCTAAAAAAAAAAAAAAAAAAAAAAAAAATATATATATATATATATATATATATATATATTTGTGCACTTGACTGGGTGCTTGTCATCTAAATAAAAAGTTGCAGCCAGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGACGAAGATGGGCAGATCTTCATCAAGGTCAAGAGATCGAGACCATCCTGGCCAATATGGTGAAACCCCGTCTCTACTAAAAATACAAAAATTATCTGGGCGTGGTGGCACGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCACGAGAATCACTTGAACCCGGGAGGAAGAGGTTGCAGTGAGCCAAGATCACACCACTGCACTCCAGCCCGTACGATACAGTGAGACCCCGTCTCAAAAAAAAAAAAAAGAAAAAGTTGCATGTAGGCCAAGTGCAGTGGCTCACACCTGTAATCTCAGCACTTTGGGAGGCCCAGGTGGGCAGACGACCTGAGGTCAGGAGTTCAAGACCAGCCTGGGCAACATGGTGAAACCTCATCTCTACAATTAATAAAAATACAGGCCGGGCACGGTGGCTCAAGCCTGTAATCCCAGCACTTTGGGAGGCTGAGGCGGGTGGATCACGAGGTCAGGAGATCGAGACCATCCTGGCTAACACGGTGAAACCCCGTCTCTACTAAATATACAAAAAATTAGCTGGGCGTTGTGGCGGGCTCTTGTAGTCCCAGATACTCGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCAGGGGGCGGAGCTTGCAGTGAGCCGAGATCACGCCATTGTACTCCAGCCTGGGCGACACAGTGAGACTCTGTCTCAAAAAAAATAAAAATAAAAAATAAAAAAATAAAAATAAAAATACAAAAAAATTAGCCAGGCGTTGTGGTGCATGCCTGTAGTCCCAGCTATTCGGGAGGCTGAGGCACGAGAATCACTTGAGCCCGAGACGCAGAGGTTGCAGTGAGCCGAGATCACGCCAGTGAGACTCTGTCTCAAAAAACAAAAAAAAAAGAAAGAAAGGAAAA
|
TAACAGGCTCTCATTCAACACCTGAGCTGTGCCTGGCATATGGGTACATGTTTAAGAAATATCTCTGACCACGTGTGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCCGAGGCTGGTGGATTATTTGAGGTCAGGAGTTCAAGACCAGCTTGGCCAACATGGTAAAACCCCATCTCTACTAAAAATACAAAAACTGGCTAGGCGTGGTGGTGCACGCCTGTAATCACAGCTACTTGGGAGGCTGAGACAGGAGAATTGCTTGAACCTGGGAGGTGGAGCTTGCAGTGAGCTGAGATCGTGCCATTGCACTCCAGCCTGGGTGACAGAGCAAGACTTCATCTCAAAAAAAAAGAAAGAAATATCTCTTGGCCAGATGCAGTGGCACACACCTGTAATCCCAGCACTTTGGGGGACCAAGGTAAGAGGATTGCTTGAAGCCAGGAGTTAGAGAGCAGCCTGGGCAACATAGCAAGACCCCATTTCTACAGAAGACTCTACGGAGTATGACTCAGGGCACCTGTTTTCAGCTACTCTGCATGTGCCTATAGTCCTAGCTACTCAGAAGGCTGAGGTGGGAAGAGCCCTGAGCCCAGGAGTTCAAGGCTGCAGTGAGCTACGATCATGCCCCTGCACTCCAGCCTGGGTGACAGGTGAATTTTTCTTCTTGTCTCTAAAAAAAATAATAATAAACAATTTAAAATAATAAAAATAAAAAATGAATATCTCTTTAACCAAAGAGCGAATTCAGCACACTCACCGAGGATTTGCTTACATTGCAAGCCCTATAGCTACAGAGAAACTGAGCGTTGCAGATAAGATGAACCCACACATAACTAGACTAACAGGTAAATGAGGACCAGCATCCCAAGAAGCACAAATCCAAACAGTACCCATTTCCTGAACACCTGCACATGCTGTTCATGTTGCCTCCCAATAGTCCCCAAAGCTAAGTGCTGTCACCCCATATAACAGAGAGGTTAAATGACTAAGACCTCGGTACCAAAAAGTGGGGACACAGGATGAACCTCCAAAACATGCTAACTAAAAGAAGCCAAACGTAATATGGGTCCATTTATATGAAATGTCCAAAATACATAAATCCAGAGAACAGTTGCCAGGGGCTGGAGGGCAGGTTGGGAGGTGGTGACTGCTTCATGGGTGTGAGATTTTCTTGGGGGCTGATGGAAGTCTTTTGGAACTAGGTAGAGGTGCTTGCACAACATTGTAAATCAACTAGATGACACCAAATTGTTTACCTTTTATAAATCTCACCTCAATTAAAAAAACAATTGTCGGTCGGGTGCAGTGCTCACACCTGTAAACCCAGACTTCGGGAGGCCGAGGCAGGCAGATCACGAGGTCAGGAGATCGAGACCATCCTGGCTAATGCAGTGAAAACCTGTCTCTACTACAAATATAAAAAATTAGCCGGGCATGGTGGCACATGCCTGTAGTCCCAGCTATCGGGAGGCTGAGGCAGAAGGATCCCTTGAACCCAGGAGAGGGAGGTTGCAGTGAGCTGAGATCATGCCACTGCACTCCAGCCTGGGCAACACAGAGAGACTCAGCCTCAAAATAAAAAAAAAATAAAAAAAATAAATTTAAGTGGTGGGAAAGAAACCAAAAAAGAAATAAATGAATAAATAAATAAATAAATAAATACAAAAGGTGGAGGCCCTGGGTGGGGTTCAAGCCCAGACTGATCTGACCCACAGCTCCACTGAAGGCTGTTTCCAAAGAGGGAGGCATGCTCTCCAAGCCTGGCTCCGCCCCCATTAGACCCAAATGGGACCGGAGGCTCTCCTTACCCTCTACCCCCAGCTGGCCCAGGGCCTACCTCGAAGAGCCAAATGAGGAGCGTGACGACACCCATGGAGTTCATGAGGCTGCTGTAGTAGCTCAGCAGGGCAGCCCTGCAGCCACGCACCCACAGGTTGAGCTCCTCCGTCTGGTGGTCGTAACTGTAGTGTGCTGAGTTGTTGGTGATCTGATACTGGATGCAGGGCCGTGGCGAGCTAGGATTGCAGCAGCTGAAAAGGACGCCGTCCACCAGGTACCGCCCATCCACGTTGCTCTTGATTCGACTTAAAGGGAAACAGACAGCTGGAGATGGGCTTCCCGGGCTTCTCAACAGGGGCCACTTCCTCCCAACCCCTGCCTCTGGAAACCTAGAATAGTCATTCACTCGCACACTTGGTATATATTTGCTGTGCGCCCGCTACGTGCCAGTCACTGTTCTAGGCGCTGAAGACAAAAAAATGAATAAATGCCCCTGCCTTCCTCGACCTTGAGGTAGACGGTAATCCAAGACCCAAGTCAATAGGGAGTATAGAAATTCACCCAACCACTCTGTGCTGCCAGGCGCTTTCTTGGGGCCATGCCTGGTGCATAGGTGGGTAGGAGGAGCAGCAGGATGGGAGCTGTTGATGGACAAGCATCTGGCTGCCACTGGTGATGCCCACAGCTCCCTCACCAACCTCATCTCCCCCTTACAGGTCACTGGTGGCCAAGGCCCTTTCCAGCCAGGTGTTTCCAGAAGGCCTGCTCAGTCCCAGGGCCTGTGCAGAGGCAGGGGATGGAGACCCGAGGCAGGCACAGTCCTTGCCCTCGGAGGACTCCACCCCCAGCCAGGTGGGAGCTCCTGACTCACCTAAGGGACACAGCTGCAAGCAGGTTCTCCAGGCTGATGGGCGGGGCTCCCAGCATATCTTCTGCACTTCTATATTTTTGTGTGTATTTGTTTAGCGCTTACCATACATTCACACAGGTTCAGAATTCAAAAGGGATCTTTACAGTGAAAAGTCTCCCCTTCCCCTCAGGCAGGCTGGGTATGTTCTACCTGGCCTGGGGGTGATTACCCAGGTGTTTTATGGTCAAAACTCCCTGAGCTGCACACTTAAGATCCGTGCATTTGGCTGGGCATGGTGGCTCATGTCTGTAATCCCAGCACTTTGTAAGGCCGAGGCGGGAGCCCAGGAGTTCAAGGCAGCAGTGAGCTATGATCACACCACTGCTCTCAGCCTGGGCAACAGAACAAGACTTTCTCTAAAAAAAAAAAAAAAAAAAAAAAAAATATATATATATATATATATATATATATATATTTGTGCACTTGACTGGGTGCTTGTCATCTAAATAAAAAGTTGCAGCCAGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGACGAAGATGGGCAGATCTTCATCAAGGTCAAGAGATCGAGACCATCCTGGCCAATATGGTGAAACCCCGTCTCTACTAAAAATACAAAAATTATCTGGGCGTGGTGGCACGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCACGAGAATCACTTGAACCCGGGAGGAAGAGGTTGCAGTGAGCCAAGATCACACCACTGCACTCCAGCCCGTACGATACAGTGAGACCCCGTCTCAAAAAAAAAAAAAAGAAAAAGTTGCATGTAGGCCAAGTGCAGTGGCTCACACCTGTAATCTCAGCACTTTGGGAGGCCCAGGTGGGCAGACGACCTGAGGTCAGGAGTTCAAGACCAGCCTGGGCAACATGGTGAAACCTCATCTCTACAATTAATAAAAATACAGGCCGGGCACGGTGGCTCAAGCCTGTAATCCCAGCACTTTGGGAGGCTGAGGCGGGTGGATCACGAGGTCAGGAGATCGAGACCATCCTGGCTAACACGGTGAAACCCCGTCTCTACTAAATATACAAAAAATTAGCTGGGCGTTGTGGCGGGCTCTTGTAGTCCCAGATACTCGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCAGGGGGCGGAGCTTGCAGTGAGCCGAGATCACGCCATTGTACTCCAGCCTGGGCGACACAGTGAGACTCTGTCTCAAAAAAAATAAAAATAAAAAATAAAAAAATAAAAATAAAAATACAAAAAAATTAGCCAGGCGTTGTGGTGCATGCCTGTAGTCCCAGCTATTCGGGAGGCTGAGGCACGAGAATCACTTGAGCCCGAGACGCAGAGGTTGCAGTGAGCCGAGATCACGCCAGTGAGACTCTGTCTCAAAAAACAAAAAAAAAAGAAAGAAAGGAAAA
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Task1_train_10305
|
A sequence alteration has been identified in PRPH2 (peripherin 2) on Chromosome 6. Is it disease-inducing or harmless?
|
Pathogenic; PRPH2-related disorder
|
TAACAGGCTCTCATTCAACACCTGAGCTGTGCCTGGCATATGGGTACATGTTTAAGAAATATCTCTGACCACGTGTGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCCGAGGCTGGTGGATTATTTGAGGTCAGGAGTTCAAGACCAGCTTGGCCAACATGGTAAAACCCCATCTCTACTAAAAATACAAAAACTGGCTAGGCGTGGTGGTGCACGCCTGTAATCACAGCTACTTGGGAGGCTGAGACAGGAGAATTGCTTGAACCTGGGAGGTGGAGCTTGCAGTGAGCTGAGATCGTGCCATTGCACTCCAGCCTGGGTGACAGAGCAAGACTTCATCTCAAAAAAAAAGAAAGAAATATCTCTTGGCCAGATGCAGTGGCACACACCTGTAATCCCAGCACTTTGGGGGACCAAGGTAAGAGGATTGCTTGAAGCCAGGAGTTAGAGAGCAGCCTGGGCAACATAGCAAGACCCCATTTCTACAGAAGACTCTACGGAGTATGACTCAGGGCACCTGTTTTCAGCTACTCTGCATGTGCCTATAGTCCTAGCTACTCAGAAGGCTGAGGTGGGAAGAGCCCTGAGCCCAGGAGTTCAAGGCTGCAGTGAGCTACGATCATGCCCCTGCACTCCAGCCTGGGTGACAGGTGAATTTTTCTTCTTGTCTCTAAAAAAAATAATAATAAACAATTTAAAATAATAAAAATAAAAAATGAATATCTCTTTAACCAAAGAGCGAATTCAGCACACTCACCGAGGATTTGCTTACATTGCAAGCCCTATAGCTACAGAGAAACTGAGCGTTGCAGATAAGATGAACCCACACATAACTAGACTAACAGGTAAATGAGGACCAGCATCCCAAGAAGCACAAATCCAAACAGTACCCATTTCCTGAACACCTGCACATGCTGTTCATGTTGCCTCCCAATAGTCCCCAAAGCTAAGTGCTGTCACCCCATATAACAGAGAGGTTAAATGACTAAGACCTCGGTACCAAAAAGTGGGGACACAGGATGAACCTCCAAAACATGCTAACTAAAAGAAGCCAAACGTAATATGGGTCCATTTATATGAAATGTCCAAAATACATAAATCCAGAGAACAGTTGCCAGGGGCTGGAGGGCAGGTTGGGAGGTGGTGACTGCTTCATGGGTGTGAGATTTTCTTGGGGGCTGATGGAAGTCTTTTGGAACTAGGTAGAGGTGCTTGCACAACATTGTAAATCAACTAGATGACACCAAATTGTTTACCTTTTATAAATCTCACCTCAATTAAAAAAACAATTGTCGGTCGGGTGCAGTGCTCACACCTGTAAACCCAGACTTCGGGAGGCCGAGGCAGGCAGATCACGAGGTCAGGAGATCGAGACCATCCTGGCTAATGCAGTGAAAACCTGTCTCTACTACAAATATAAAAAATTAGCCGGGCATGGTGGCACATGCCTGTAGTCCCAGCTATCGGGAGGCTGAGGCAGAAGGATCCCTTGAACCCAGGAGAGGGAGGTTGCAGTGAGCTGAGATCATGCCACTGCACTCCAGCCTGGGCAACACAGAGAGACTCAGCCTCAAAATAAAAAAAAAATAAAAAAAATAAATTTAAGTGGTGGGAAAGAAACCAAAAAAGAAATAAATGAATAAATAAATAAATAAATAAATACAAAAGGTGGAGGCCCTGGGTGGGGTTCAAGCCCAGACTGATCTGACCCACAGCTCCACTGAAGGCTGTTTCCAAAGAGGGAGGCATGCTCTCCAAGCCTGGCTCCGCCCCCATTAGACCCAAATGGGACCGGAGGCTCTCCTTACCCTCTACCCCCAGCTGGCCCAGGGCCTACCTCGAAGAGCCAAATGAGGAGCGTGACGACACCCATGGAGTTCATGAGGCTGCTGTAGTAGCTCAGCAGGGCAGCCCTGCAGCCACGCACCCACAGGTTGAGCTCCTCCGTCTGGTGGTCGTAACTGTAGTGTGCTGAGTTGTTGGTGATCTGATACTGGATGCAGGGCCGTGGCGAGCTAGGATTGCAGCAGCTGAAAGGGACGCCGTCCACCAGGTACCGCCCATCCACGTTGCTCTTGATTCGACTTAAAGGGAAACAGACAGCTGGAGATGGGCTTCCCGGGCTTCTCAACAGGGGCCACTTCCTCCCAACCCCTGCCTCTGGAAACCTAGAATAGTCATTCACTCGCACACTTGGTATATATTTGCTGTGCGCCCGCTACGTGCCAGTCACTGTTCTAGGCGCTGAAGACAAAAAAATGAATAAATGCCCCTGCCTTCCTCGACCTTGAGGTAGACGGTAATCCAAGACCCAAGTCAATAGGGAGTATAGAAATTCACCCAACCACTCTGTGCTGCCAGGCGCTTTCTTGGGGCCATGCCTGGTGCATAGGTGGGTAGGAGGAGCAGCAGGATGGGAGCTGTTGATGGACAAGCATCTGGCTGCCACTGGTGATGCCCACAGCTCCCTCACCAACCTCATCTCCCCCTTACAGGTCACTGGTGGCCAAGGCCCTTTCCAGCCAGGTGTTTCCAGAAGGCCTGCTCAGTCCCAGGGCCTGTGCAGAGGCAGGGGATGGAGACCCGAGGCAGGCACAGTCCTTGCCCTCGGAGGACTCCACCCCCAGCCAGGTGGGAGCTCCTGACTCACCTAAGGGACACAGCTGCAAGCAGGTTCTCCAGGCTGATGGGCGGGGCTCCCAGCATATCTTCTGCACTTCTATATTTTTGTGTGTATTTGTTTAGCGCTTACCATACATTCACACAGGTTCAGAATTCAAAAGGGATCTTTACAGTGAAAAGTCTCCCCTTCCCCTCAGGCAGGCTGGGTATGTTCTACCTGGCCTGGGGGTGATTACCCAGGTGTTTTATGGTCAAAACTCCCTGAGCTGCACACTTAAGATCCGTGCATTTGGCTGGGCATGGTGGCTCATGTCTGTAATCCCAGCACTTTGTAAGGCCGAGGCGGGAGCCCAGGAGTTCAAGGCAGCAGTGAGCTATGATCACACCACTGCTCTCAGCCTGGGCAACAGAACAAGACTTTCTCTAAAAAAAAAAAAAAAAAAAAAAAAAATATATATATATATATATATATATATATATATTTGTGCACTTGACTGGGTGCTTGTCATCTAAATAAAAAGTTGCAGCCAGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGACGAAGATGGGCAGATCTTCATCAAGGTCAAGAGATCGAGACCATCCTGGCCAATATGGTGAAACCCCGTCTCTACTAAAAATACAAAAATTATCTGGGCGTGGTGGCACGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCACGAGAATCACTTGAACCCGGGAGGAAGAGGTTGCAGTGAGCCAAGATCACACCACTGCACTCCAGCCCGTACGATACAGTGAGACCCCGTCTCAAAAAAAAAAAAAAGAAAAAGTTGCATGTAGGCCAAGTGCAGTGGCTCACACCTGTAATCTCAGCACTTTGGGAGGCCCAGGTGGGCAGACGACCTGAGGTCAGGAGTTCAAGACCAGCCTGGGCAACATGGTGAAACCTCATCTCTACAATTAATAAAAATACAGGCCGGGCACGGTGGCTCAAGCCTGTAATCCCAGCACTTTGGGAGGCTGAGGCGGGTGGATCACGAGGTCAGGAGATCGAGACCATCCTGGCTAACACGGTGAAACCCCGTCTCTACTAAATATACAAAAAATTAGCTGGGCGTTGTGGCGGGCTCTTGTAGTCCCAGATACTCGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCAGGGGGCGGAGCTTGCAGTGAGCCGAGATCACGCCATTGTACTCCAGCCTGGGCGACACAGTGAGACTCTGTCTCAAAAAAAATAAAAATAAAAAATAAAAAAATAAAAATAAAAATACAAAAAAATTAGCCAGGCGTTGTGGTGCATGCCTGTAGTCCCAGCTATTCGGGAGGCTGAGGCACGAGAATCACTTGAGCCCGAGACGCAGAGGTTGCAGTGAGCCGAGATCACGCCAGTGAGACTCTGTCTCAAAAAACAAAAAAAAAAGAAAGAAAGGAAAA
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TAACAGGCTCTCATTCAACACCTGAGCTGTGCCTGGCATATGGGTACATGTTTAAGAAATATCTCTGACCACGTGTGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCCGAGGCTGGTGGATTATTTGAGGTCAGGAGTTCAAGACCAGCTTGGCCAACATGGTAAAACCCCATCTCTACTAAAAATACAAAAACTGGCTAGGCGTGGTGGTGCACGCCTGTAATCACAGCTACTTGGGAGGCTGAGACAGGAGAATTGCTTGAACCTGGGAGGTGGAGCTTGCAGTGAGCTGAGATCGTGCCATTGCACTCCAGCCTGGGTGACAGAGCAAGACTTCATCTCAAAAAAAAAGAAAGAAATATCTCTTGGCCAGATGCAGTGGCACACACCTGTAATCCCAGCACTTTGGGGGACCAAGGTAAGAGGATTGCTTGAAGCCAGGAGTTAGAGAGCAGCCTGGGCAACATAGCAAGACCCCATTTCTACAGAAGACTCTACGGAGTATGACTCAGGGCACCTGTTTTCAGCTACTCTGCATGTGCCTATAGTCCTAGCTACTCAGAAGGCTGAGGTGGGAAGAGCCCTGAGCCCAGGAGTTCAAGGCTGCAGTGAGCTACGATCATGCCCCTGCACTCCAGCCTGGGTGACAGGTGAATTTTTCTTCTTGTCTCTAAAAAAAATAATAATAAACAATTTAAAATAATAAAAATAAAAAATGAATATCTCTTTAACCAAAGAGCGAATTCAGCACACTCACCGAGGATTTGCTTACATTGCAAGCCCTATAGCTACAGAGAAACTGAGCGTTGCAGATAAGATGAACCCACACATAACTAGACTAACAGGTAAATGAGGACCAGCATCCCAAGAAGCACAAATCCAAACAGTACCCATTTCCTGAACACCTGCACATGCTGTTCATGTTGCCTCCCAATAGTCCCCAAAGCTAAGTGCTGTCACCCCATATAACAGAGAGGTTAAATGACTAAGACCTCGGTACCAAAAAGTGGGGACACAGGATGAACCTCCAAAACATGCTAACTAAAAGAAGCCAAACGTAATATGGGTCCATTTATATGAAATGTCCAAAATACATAAATCCAGAGAACAGTTGCCAGGGGCTGGAGGGCAGGTTGGGAGGTGGTGACTGCTTCATGGGTGTGAGATTTTCTTGGGGGCTGATGGAAGTCTTTTGGAACTAGGTAGAGGTGCTTGCACAACATTGTAAATCAACTAGATGACACCAAATTGTTTACCTTTTATAAATCTCACCTCAATTAAAAAAACAATTGTCGGTCGGGTGCAGTGCTCACACCTGTAAACCCAGACTTCGGGAGGCCGAGGCAGGCAGATCACGAGGTCAGGAGATCGAGACCATCCTGGCTAATGCAGTGAAAACCTGTCTCTACTACAAATATAAAAAATTAGCCGGGCATGGTGGCACATGCCTGTAGTCCCAGCTATCGGGAGGCTGAGGCAGAAGGATCCCTTGAACCCAGGAGAGGGAGGTTGCAGTGAGCTGAGATCATGCCACTGCACTCCAGCCTGGGCAACACAGAGAGACTCAGCCTCAAAATAAAAAAAAAATAAAAAAAATAAATTTAAGTGGTGGGAAAGAAACCAAAAAAGAAATAAATGAATAAATAAATAAATAAATAAATACAAAAGGTGGAGGCCCTGGGTGGGGTTCAAGCCCAGACTGATCTGACCCACAGCTCCACTGAAGGCTGTTTCCAAAGAGGGAGGCATGCTCTCCAAGCCTGGCTCCGCCCCCATTAGACCCAAATGGGACCGGAGGCTCTCCTTACCCTCTACCCCCAGCTGGCCCAGGGCCTACCTCGAAGAGCCAAATGAGGAGCGTGACGACACCCATGGAGTTCATGAGGCTGCTGTAGTAGCTCAGCAGGGCAGCCCTGCAGCCACGCACCCACAGGTTGAGCTCCTCCGTCTGGTGGTCGTAACTGTAGTGTGCTGAGTTGTTGGTGATCTGATACTGGATGCAGGGCCGTGGCGAGCTAGGATTGCAGCAGCTGAAAAGGACGCCGTCCACCAGGTACCGCCCATCCACGTTGCTCTTGATTCGACTTAAAGGGAAACAGACAGCTGGAGATGGGCTTCCCGGGCTTCTCAACAGGGGCCACTTCCTCCCAACCCCTGCCTCTGGAAACCTAGAATAGTCATTCACTCGCACACTTGGTATATATTTGCTGTGCGCCCGCTACGTGCCAGTCACTGTTCTAGGCGCTGAAGACAAAAAAATGAATAAATGCCCCTGCCTTCCTCGACCTTGAGGTAGACGGTAATCCAAGACCCAAGTCAATAGGGAGTATAGAAATTCACCCAACCACTCTGTGCTGCCAGGCGCTTTCTTGGGGCCATGCCTGGTGCATAGGTGGGTAGGAGGAGCAGCAGGATGGGAGCTGTTGATGGACAAGCATCTGGCTGCCACTGGTGATGCCCACAGCTCCCTCACCAACCTCATCTCCCCCTTACAGGTCACTGGTGGCCAAGGCCCTTTCCAGCCAGGTGTTTCCAGAAGGCCTGCTCAGTCCCAGGGCCTGTGCAGAGGCAGGGGATGGAGACCCGAGGCAGGCACAGTCCTTGCCCTCGGAGGACTCCACCCCCAGCCAGGTGGGAGCTCCTGACTCACCTAAGGGACACAGCTGCAAGCAGGTTCTCCAGGCTGATGGGCGGGGCTCCCAGCATATCTTCTGCACTTCTATATTTTTGTGTGTATTTGTTTAGCGCTTACCATACATTCACACAGGTTCAGAATTCAAAAGGGATCTTTACAGTGAAAAGTCTCCCCTTCCCCTCAGGCAGGCTGGGTATGTTCTACCTGGCCTGGGGGTGATTACCCAGGTGTTTTATGGTCAAAACTCCCTGAGCTGCACACTTAAGATCCGTGCATTTGGCTGGGCATGGTGGCTCATGTCTGTAATCCCAGCACTTTGTAAGGCCGAGGCGGGAGCCCAGGAGTTCAAGGCAGCAGTGAGCTATGATCACACCACTGCTCTCAGCCTGGGCAACAGAACAAGACTTTCTCTAAAAAAAAAAAAAAAAAAAAAAAAAATATATATATATATATATATATATATATATATTTGTGCACTTGACTGGGTGCTTGTCATCTAAATAAAAAGTTGCAGCCAGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGACGAAGATGGGCAGATCTTCATCAAGGTCAAGAGATCGAGACCATCCTGGCCAATATGGTGAAACCCCGTCTCTACTAAAAATACAAAAATTATCTGGGCGTGGTGGCACGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCACGAGAATCACTTGAACCCGGGAGGAAGAGGTTGCAGTGAGCCAAGATCACACCACTGCACTCCAGCCCGTACGATACAGTGAGACCCCGTCTCAAAAAAAAAAAAAAGAAAAAGTTGCATGTAGGCCAAGTGCAGTGGCTCACACCTGTAATCTCAGCACTTTGGGAGGCCCAGGTGGGCAGACGACCTGAGGTCAGGAGTTCAAGACCAGCCTGGGCAACATGGTGAAACCTCATCTCTACAATTAATAAAAATACAGGCCGGGCACGGTGGCTCAAGCCTGTAATCCCAGCACTTTGGGAGGCTGAGGCGGGTGGATCACGAGGTCAGGAGATCGAGACCATCCTGGCTAACACGGTGAAACCCCGTCTCTACTAAATATACAAAAAATTAGCTGGGCGTTGTGGCGGGCTCTTGTAGTCCCAGATACTCGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCAGGGGGCGGAGCTTGCAGTGAGCCGAGATCACGCCATTGTACTCCAGCCTGGGCGACACAGTGAGACTCTGTCTCAAAAAAAATAAAAATAAAAAATAAAAAAATAAAAATAAAAATACAAAAAAATTAGCCAGGCGTTGTGGTGCATGCCTGTAGTCCCAGCTATTCGGGAGGCTGAGGCACGAGAATCACTTGAGCCCGAGACGCAGAGGTTGCAGTGAGCCGAGATCACGCCAGTGAGACTCTGTCTCAAAAAACAAAAAAAAAAGAAAGAAAGGAAAA
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Task1_train_10306
|
This mutation is located in gene PRPH2 (peripherin 2) on Chromosome 6. Is it associated with a disease or is it a benign polymorphism?
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Pathogenic; PRPH2-related disorder
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AACAGGCTCTCATTCAACACCTGAGCTGTGCCTGGCATATGGGTACATGTTTAAGAAATATCTCTGACCACGTGTGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCCGAGGCTGGTGGATTATTTGAGGTCAGGAGTTCAAGACCAGCTTGGCCAACATGGTAAAACCCCATCTCTACTAAAAATACAAAAACTGGCTAGGCGTGGTGGTGCACGCCTGTAATCACAGCTACTTGGGAGGCTGAGACAGGAGAATTGCTTGAACCTGGGAGGTGGAGCTTGCAGTGAGCTGAGATCGTGCCATTGCACTCCAGCCTGGGTGACAGAGCAAGACTTCATCTCAAAAAAAAAGAAAGAAATATCTCTTGGCCAGATGCAGTGGCACACACCTGTAATCCCAGCACTTTGGGGGACCAAGGTAAGAGGATTGCTTGAAGCCAGGAGTTAGAGAGCAGCCTGGGCAACATAGCAAGACCCCATTTCTACAGAAGACTCTACGGAGTATGACTCAGGGCACCTGTTTTCAGCTACTCTGCATGTGCCTATAGTCCTAGCTACTCAGAAGGCTGAGGTGGGAAGAGCCCTGAGCCCAGGAGTTCAAGGCTGCAGTGAGCTACGATCATGCCCCTGCACTCCAGCCTGGGTGACAGGTGAATTTTTCTTCTTGTCTCTAAAAAAAATAATAATAAACAATTTAAAATAATAAAAATAAAAAATGAATATCTCTTTAACCAAAGAGCGAATTCAGCACACTCACCGAGGATTTGCTTACATTGCAAGCCCTATAGCTACAGAGAAACTGAGCGTTGCAGATAAGATGAACCCACACATAACTAGACTAACAGGTAAATGAGGACCAGCATCCCAAGAAGCACAAATCCAAACAGTACCCATTTCCTGAACACCTGCACATGCTGTTCATGTTGCCTCCCAATAGTCCCCAAAGCTAAGTGCTGTCACCCCATATAACAGAGAGGTTAAATGACTAAGACCTCGGTACCAAAAAGTGGGGACACAGGATGAACCTCCAAAACATGCTAACTAAAAGAAGCCAAACGTAATATGGGTCCATTTATATGAAATGTCCAAAATACATAAATCCAGAGAACAGTTGCCAGGGGCTGGAGGGCAGGTTGGGAGGTGGTGACTGCTTCATGGGTGTGAGATTTTCTTGGGGGCTGATGGAAGTCTTTTGGAACTAGGTAGAGGTGCTTGCACAACATTGTAAATCAACTAGATGACACCAAATTGTTTACCTTTTATAAATCTCACCTCAATTAAAAAAACAATTGTCGGTCGGGTGCAGTGCTCACACCTGTAAACCCAGACTTCGGGAGGCCGAGGCAGGCAGATCACGAGGTCAGGAGATCGAGACCATCCTGGCTAATGCAGTGAAAACCTGTCTCTACTACAAATATAAAAAATTAGCCGGGCATGGTGGCACATGCCTGTAGTCCCAGCTATCGGGAGGCTGAGGCAGAAGGATCCCTTGAACCCAGGAGAGGGAGGTTGCAGTGAGCTGAGATCATGCCACTGCACTCCAGCCTGGGCAACACAGAGAGACTCAGCCTCAAAATAAAAAAAAAATAAAAAAAATAAATTTAAGTGGTGGGAAAGAAACCAAAAAAGAAATAAATGAATAAATAAATAAATAAATAAATACAAAAGGTGGAGGCCCTGGGTGGGGTTCAAGCCCAGACTGATCTGACCCACAGCTCCACTGAAGGCTGTTTCCAAAGAGGGAGGCATGCTCTCCAAGCCTGGCTCCGCCCCCATTAGACCCAAATGGGACCGGAGGCTCTCCTTACCCTCTACCCCCAGCTGGCCCAGGGCCTACCTCGAAGAGCCAAATGAGGAGCGTGACGACACCCATGGAGTTCATGAGGCTGCTGTAGTAGCTCAGCAGGGCAGCCCTGCAGCCACGCACCCACAGGTTGAGCTCCTCCGTCTGGTGGTCGTAACTGTAGTGTGCTGAGTTGTTGGTGATCTGATACTGGATGCAGGGCCGTGGCGAGCTAGGATTGCAGCAGCTGAAAGGGACGCCGTCCACCAGGTACCGCCCATCCACGTTGCTCTTGATTCGACTTAAAGGGAAACAGACAGCTGGAGATGGGCTTCCCGGGCTTCTCAACAGGGGCCACTTCCTCCCAACCCCTGCCTCTGGAAACCTAGAATAGTCATTCACTCGCACACTTGGTATATATTTGCTGTGCGCCCGCTACGTGCCAGTCACTGTTCTAGGCGCTGAAGACAAAAAAATGAATAAATGCCCCTGCCTTCCTCGACCTTGAGGTAGACGGTAATCCAAGACCCAAGTCAATAGGGAGTATAGAAATTCACCCAACCACTCTGTGCTGCCAGGCGCTTTCTTGGGGCCATGCCTGGTGCATAGGTGGGTAGGAGGAGCAGCAGGATGGGAGCTGTTGATGGACAAGCATCTGGCTGCCACTGGTGATGCCCACAGCTCCCTCACCAACCTCATCTCCCCCTTACAGGTCACTGGTGGCCAAGGCCCTTTCCAGCCAGGTGTTTCCAGAAGGCCTGCTCAGTCCCAGGGCCTGTGCAGAGGCAGGGGATGGAGACCCGAGGCAGGCACAGTCCTTGCCCTCGGAGGACTCCACCCCCAGCCAGGTGGGAGCTCCTGACTCACCTAAGGGACACAGCTGCAAGCAGGTTCTCCAGGCTGATGGGCGGGGCTCCCAGCATATCTTCTGCACTTCTATATTTTTGTGTGTATTTGTTTAGCGCTTACCATACATTCACACAGGTTCAGAATTCAAAAGGGATCTTTACAGTGAAAAGTCTCCCCTTCCCCTCAGGCAGGCTGGGTATGTTCTACCTGGCCTGGGGGTGATTACCCAGGTGTTTTATGGTCAAAACTCCCTGAGCTGCACACTTAAGATCCGTGCATTTGGCTGGGCATGGTGGCTCATGTCTGTAATCCCAGCACTTTGTAAGGCCGAGGCGGGAGCCCAGGAGTTCAAGGCAGCAGTGAGCTATGATCACACCACTGCTCTCAGCCTGGGCAACAGAACAAGACTTTCTCTAAAAAAAAAAAAAAAAAAAAAAAAAATATATATATATATATATATATATATATATATTTGTGCACTTGACTGGGTGCTTGTCATCTAAATAAAAAGTTGCAGCCAGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGACGAAGATGGGCAGATCTTCATCAAGGTCAAGAGATCGAGACCATCCTGGCCAATATGGTGAAACCCCGTCTCTACTAAAAATACAAAAATTATCTGGGCGTGGTGGCACGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCACGAGAATCACTTGAACCCGGGAGGAAGAGGTTGCAGTGAGCCAAGATCACACCACTGCACTCCAGCCCGTACGATACAGTGAGACCCCGTCTCAAAAAAAAAAAAAAGAAAAAGTTGCATGTAGGCCAAGTGCAGTGGCTCACACCTGTAATCTCAGCACTTTGGGAGGCCCAGGTGGGCAGACGACCTGAGGTCAGGAGTTCAAGACCAGCCTGGGCAACATGGTGAAACCTCATCTCTACAATTAATAAAAATACAGGCCGGGCACGGTGGCTCAAGCCTGTAATCCCAGCACTTTGGGAGGCTGAGGCGGGTGGATCACGAGGTCAGGAGATCGAGACCATCCTGGCTAACACGGTGAAACCCCGTCTCTACTAAATATACAAAAAATTAGCTGGGCGTTGTGGCGGGCTCTTGTAGTCCCAGATACTCGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCAGGGGGCGGAGCTTGCAGTGAGCCGAGATCACGCCATTGTACTCCAGCCTGGGCGACACAGTGAGACTCTGTCTCAAAAAAAATAAAAATAAAAAATAAAAAAATAAAAATAAAAATACAAAAAAATTAGCCAGGCGTTGTGGTGCATGCCTGTAGTCCCAGCTATTCGGGAGGCTGAGGCACGAGAATCACTTGAGCCCGAGACGCAGAGGTTGCAGTGAGCCGAGATCACGCCAGTGAGACTCTGTCTCAAAAAACAAAAAAAAAAGAAAGAAAGGAAAAA
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AACAGGCTCTCATTCAACACCTGAGCTGTGCCTGGCATATGGGTACATGTTTAAGAAATATCTCTGACCACGTGTGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCCGAGGCTGGTGGATTATTTGAGGTCAGGAGTTCAAGACCAGCTTGGCCAACATGGTAAAACCCCATCTCTACTAAAAATACAAAAACTGGCTAGGCGTGGTGGTGCACGCCTGTAATCACAGCTACTTGGGAGGCTGAGACAGGAGAATTGCTTGAACCTGGGAGGTGGAGCTTGCAGTGAGCTGAGATCGTGCCATTGCACTCCAGCCTGGGTGACAGAGCAAGACTTCATCTCAAAAAAAAAGAAAGAAATATCTCTTGGCCAGATGCAGTGGCACACACCTGTAATCCCAGCACTTTGGGGGACCAAGGTAAGAGGATTGCTTGAAGCCAGGAGTTAGAGAGCAGCCTGGGCAACATAGCAAGACCCCATTTCTACAGAAGACTCTACGGAGTATGACTCAGGGCACCTGTTTTCAGCTACTCTGCATGTGCCTATAGTCCTAGCTACTCAGAAGGCTGAGGTGGGAAGAGCCCTGAGCCCAGGAGTTCAAGGCTGCAGTGAGCTACGATCATGCCCCTGCACTCCAGCCTGGGTGACAGGTGAATTTTTCTTCTTGTCTCTAAAAAAAATAATAATAAACAATTTAAAATAATAAAAATAAAAAATGAATATCTCTTTAACCAAAGAGCGAATTCAGCACACTCACCGAGGATTTGCTTACATTGCAAGCCCTATAGCTACAGAGAAACTGAGCGTTGCAGATAAGATGAACCCACACATAACTAGACTAACAGGTAAATGAGGACCAGCATCCCAAGAAGCACAAATCCAAACAGTACCCATTTCCTGAACACCTGCACATGCTGTTCATGTTGCCTCCCAATAGTCCCCAAAGCTAAGTGCTGTCACCCCATATAACAGAGAGGTTAAATGACTAAGACCTCGGTACCAAAAAGTGGGGACACAGGATGAACCTCCAAAACATGCTAACTAAAAGAAGCCAAACGTAATATGGGTCCATTTATATGAAATGTCCAAAATACATAAATCCAGAGAACAGTTGCCAGGGGCTGGAGGGCAGGTTGGGAGGTGGTGACTGCTTCATGGGTGTGAGATTTTCTTGGGGGCTGATGGAAGTCTTTTGGAACTAGGTAGAGGTGCTTGCACAACATTGTAAATCAACTAGATGACACCAAATTGTTTACCTTTTATAAATCTCACCTCAATTAAAAAAACAATTGTCGGTCGGGTGCAGTGCTCACACCTGTAAACCCAGACTTCGGGAGGCCGAGGCAGGCAGATCACGAGGTCAGGAGATCGAGACCATCCTGGCTAATGCAGTGAAAACCTGTCTCTACTACAAATATAAAAAATTAGCCGGGCATGGTGGCACATGCCTGTAGTCCCAGCTATCGGGAGGCTGAGGCAGAAGGATCCCTTGAACCCAGGAGAGGGAGGTTGCAGTGAGCTGAGATCATGCCACTGCACTCCAGCCTGGGCAACACAGAGAGACTCAGCCTCAAAATAAAAAAAAAATAAAAAAAATAAATTTAAGTGGTGGGAAAGAAACCAAAAAAGAAATAAATGAATAAATAAATAAATAAATAAATACAAAAGGTGGAGGCCCTGGGTGGGGTTCAAGCCCAGACTGATCTGACCCACAGCTCCACTGAAGGCTGTTTCCAAAGAGGGAGGCATGCTCTCCAAGCCTGGCTCCGCCCCCATTAGACCCAAATGGGACCGGAGGCTCTCCTTACCCTCTACCCCCAGCTGGCCCAGGGCCTACCTCGAAGAGCCAAATGAGGAGCGTGACGACACCCATGGAGTTCATGAGGCTGCTGTAGTAGCTCAGCAGGGCAGCCCTGCAGCCACGCACCCACAGGTTGAGCTCCTCCGTCTGGTGGTCGTAACTGTAGTGTGCTGAGTTGTTGGTGATCTGATACTGGATGCAGGGCCGTGGCGAGCTAGGATTGCAGCAGCTGAAAGCGACGCCGTCCACCAGGTACCGCCCATCCACGTTGCTCTTGATTCGACTTAAAGGGAAACAGACAGCTGGAGATGGGCTTCCCGGGCTTCTCAACAGGGGCCACTTCCTCCCAACCCCTGCCTCTGGAAACCTAGAATAGTCATTCACTCGCACACTTGGTATATATTTGCTGTGCGCCCGCTACGTGCCAGTCACTGTTCTAGGCGCTGAAGACAAAAAAATGAATAAATGCCCCTGCCTTCCTCGACCTTGAGGTAGACGGTAATCCAAGACCCAAGTCAATAGGGAGTATAGAAATTCACCCAACCACTCTGTGCTGCCAGGCGCTTTCTTGGGGCCATGCCTGGTGCATAGGTGGGTAGGAGGAGCAGCAGGATGGGAGCTGTTGATGGACAAGCATCTGGCTGCCACTGGTGATGCCCACAGCTCCCTCACCAACCTCATCTCCCCCTTACAGGTCACTGGTGGCCAAGGCCCTTTCCAGCCAGGTGTTTCCAGAAGGCCTGCTCAGTCCCAGGGCCTGTGCAGAGGCAGGGGATGGAGACCCGAGGCAGGCACAGTCCTTGCCCTCGGAGGACTCCACCCCCAGCCAGGTGGGAGCTCCTGACTCACCTAAGGGACACAGCTGCAAGCAGGTTCTCCAGGCTGATGGGCGGGGCTCCCAGCATATCTTCTGCACTTCTATATTTTTGTGTGTATTTGTTTAGCGCTTACCATACATTCACACAGGTTCAGAATTCAAAAGGGATCTTTACAGTGAAAAGTCTCCCCTTCCCCTCAGGCAGGCTGGGTATGTTCTACCTGGCCTGGGGGTGATTACCCAGGTGTTTTATGGTCAAAACTCCCTGAGCTGCACACTTAAGATCCGTGCATTTGGCTGGGCATGGTGGCTCATGTCTGTAATCCCAGCACTTTGTAAGGCCGAGGCGGGAGCCCAGGAGTTCAAGGCAGCAGTGAGCTATGATCACACCACTGCTCTCAGCCTGGGCAACAGAACAAGACTTTCTCTAAAAAAAAAAAAAAAAAAAAAAAAAATATATATATATATATATATATATATATATATTTGTGCACTTGACTGGGTGCTTGTCATCTAAATAAAAAGTTGCAGCCAGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGACGAAGATGGGCAGATCTTCATCAAGGTCAAGAGATCGAGACCATCCTGGCCAATATGGTGAAACCCCGTCTCTACTAAAAATACAAAAATTATCTGGGCGTGGTGGCACGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCACGAGAATCACTTGAACCCGGGAGGAAGAGGTTGCAGTGAGCCAAGATCACACCACTGCACTCCAGCCCGTACGATACAGTGAGACCCCGTCTCAAAAAAAAAAAAAAGAAAAAGTTGCATGTAGGCCAAGTGCAGTGGCTCACACCTGTAATCTCAGCACTTTGGGAGGCCCAGGTGGGCAGACGACCTGAGGTCAGGAGTTCAAGACCAGCCTGGGCAACATGGTGAAACCTCATCTCTACAATTAATAAAAATACAGGCCGGGCACGGTGGCTCAAGCCTGTAATCCCAGCACTTTGGGAGGCTGAGGCGGGTGGATCACGAGGTCAGGAGATCGAGACCATCCTGGCTAACACGGTGAAACCCCGTCTCTACTAAATATACAAAAAATTAGCTGGGCGTTGTGGCGGGCTCTTGTAGTCCCAGATACTCGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCAGGGGGCGGAGCTTGCAGTGAGCCGAGATCACGCCATTGTACTCCAGCCTGGGCGACACAGTGAGACTCTGTCTCAAAAAAAATAAAAATAAAAAATAAAAAAATAAAAATAAAAATACAAAAAAATTAGCCAGGCGTTGTGGTGCATGCCTGTAGTCCCAGCTATTCGGGAGGCTGAGGCACGAGAATCACTTGAGCCCGAGACGCAGAGGTTGCAGTGAGCCGAGATCACGCCAGTGAGACTCTGTCTCAAAAAACAAAAAAAAAAGAAAGAAAGGAAAAA
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Task1_train_10307
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This variant affects the gene PRPH2 (peripherin 2) found on Chromosome 6. What is the clinical effect of this variant — benign or pathogenic? State the disease if applicable.
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Pathogenic; not provided
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GCCTGGCATATGGGTACATGTTTAAGAAATATCTCTGACCACGTGTGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCCGAGGCTGGTGGATTATTTGAGGTCAGGAGTTCAAGACCAGCTTGGCCAACATGGTAAAACCCCATCTCTACTAAAAATACAAAAACTGGCTAGGCGTGGTGGTGCACGCCTGTAATCACAGCTACTTGGGAGGCTGAGACAGGAGAATTGCTTGAACCTGGGAGGTGGAGCTTGCAGTGAGCTGAGATCGTGCCATTGCACTCCAGCCTGGGTGACAGAGCAAGACTTCATCTCAAAAAAAAAGAAAGAAATATCTCTTGGCCAGATGCAGTGGCACACACCTGTAATCCCAGCACTTTGGGGGACCAAGGTAAGAGGATTGCTTGAAGCCAGGAGTTAGAGAGCAGCCTGGGCAACATAGCAAGACCCCATTTCTACAGAAGACTCTACGGAGTATGACTCAGGGCACCTGTTTTCAGCTACTCTGCATGTGCCTATAGTCCTAGCTACTCAGAAGGCTGAGGTGGGAAGAGCCCTGAGCCCAGGAGTTCAAGGCTGCAGTGAGCTACGATCATGCCCCTGCACTCCAGCCTGGGTGACAGGTGAATTTTTCTTCTTGTCTCTAAAAAAAATAATAATAAACAATTTAAAATAATAAAAATAAAAAATGAATATCTCTTTAACCAAAGAGCGAATTCAGCACACTCACCGAGGATTTGCTTACATTGCAAGCCCTATAGCTACAGAGAAACTGAGCGTTGCAGATAAGATGAACCCACACATAACTAGACTAACAGGTAAATGAGGACCAGCATCCCAAGAAGCACAAATCCAAACAGTACCCATTTCCTGAACACCTGCACATGCTGTTCATGTTGCCTCCCAATAGTCCCCAAAGCTAAGTGCTGTCACCCCATATAACAGAGAGGTTAAATGACTAAGACCTCGGTACCAAAAAGTGGGGACACAGGATGAACCTCCAAAACATGCTAACTAAAAGAAGCCAAACGTAATATGGGTCCATTTATATGAAATGTCCAAAATACATAAATCCAGAGAACAGTTGCCAGGGGCTGGAGGGCAGGTTGGGAGGTGGTGACTGCTTCATGGGTGTGAGATTTTCTTGGGGGCTGATGGAAGTCTTTTGGAACTAGGTAGAGGTGCTTGCACAACATTGTAAATCAACTAGATGACACCAAATTGTTTACCTTTTATAAATCTCACCTCAATTAAAAAAACAATTGTCGGTCGGGTGCAGTGCTCACACCTGTAAACCCAGACTTCGGGAGGCCGAGGCAGGCAGATCACGAGGTCAGGAGATCGAGACCATCCTGGCTAATGCAGTGAAAACCTGTCTCTACTACAAATATAAAAAATTAGCCGGGCATGGTGGCACATGCCTGTAGTCCCAGCTATCGGGAGGCTGAGGCAGAAGGATCCCTTGAACCCAGGAGAGGGAGGTTGCAGTGAGCTGAGATCATGCCACTGCACTCCAGCCTGGGCAACACAGAGAGACTCAGCCTCAAAATAAAAAAAAAATAAAAAAAATAAATTTAAGTGGTGGGAAAGAAACCAAAAAAGAAATAAATGAATAAATAAATAAATAAATAAATACAAAAGGTGGAGGCCCTGGGTGGGGTTCAAGCCCAGACTGATCTGACCCACAGCTCCACTGAAGGCTGTTTCCAAAGAGGGAGGCATGCTCTCCAAGCCTGGCTCCGCCCCCATTAGACCCAAATGGGACCGGAGGCTCTCCTTACCCTCTACCCCCAGCTGGCCCAGGGCCTACCTCGAAGAGCCAAATGAGGAGCGTGACGACACCCATGGAGTTCATGAGGCTGCTGTAGTAGCTCAGCAGGGCAGCCCTGCAGCCACGCACCCACAGGTTGAGCTCCTCCGTCTGGTGGTCGTAACTGTAGTGTGCTGAGTTGTTGGTGATCTGATACTGGATGCAGGGCCGTGGCGAGCTAGGATTGCAGCAGCTGAAAGGGACGCCGTCCACCAGGTACCGCCCATCCACGTTGCTCTTGATTCGACTTAAAGGGAAACAGACAGCTGGAGATGGGCTTCCCGGGCTTCTCAACAGGGGCCACTTCCTCCCAACCCCTGCCTCTGGAAACCTAGAATAGTCATTCACTCGCACACTTGGTATATATTTGCTGTGCGCCCGCTACGTGCCAGTCACTGTTCTAGGCGCTGAAGACAAAAAAATGAATAAATGCCCCTGCCTTCCTCGACCTTGAGGTAGACGGTAATCCAAGACCCAAGTCAATAGGGAGTATAGAAATTCACCCAACCACTCTGTGCTGCCAGGCGCTTTCTTGGGGCCATGCCTGGTGCATAGGTGGGTAGGAGGAGCAGCAGGATGGGAGCTGTTGATGGACAAGCATCTGGCTGCCACTGGTGATGCCCACAGCTCCCTCACCAACCTCATCTCCCCCTTACAGGTCACTGGTGGCCAAGGCCCTTTCCAGCCAGGTGTTTCCAGAAGGCCTGCTCAGTCCCAGGGCCTGTGCAGAGGCAGGGGATGGAGACCCGAGGCAGGCACAGTCCTTGCCCTCGGAGGACTCCACCCCCAGCCAGGTGGGAGCTCCTGACTCACCTAAGGGACACAGCTGCAAGCAGGTTCTCCAGGCTGATGGGCGGGGCTCCCAGCATATCTTCTGCACTTCTATATTTTTGTGTGTATTTGTTTAGCGCTTACCATACATTCACACAGGTTCAGAATTCAAAAGGGATCTTTACAGTGAAAAGTCTCCCCTTCCCCTCAGGCAGGCTGGGTATGTTCTACCTGGCCTGGGGGTGATTACCCAGGTGTTTTATGGTCAAAACTCCCTGAGCTGCACACTTAAGATCCGTGCATTTGGCTGGGCATGGTGGCTCATGTCTGTAATCCCAGCACTTTGTAAGGCCGAGGCGGGAGCCCAGGAGTTCAAGGCAGCAGTGAGCTATGATCACACCACTGCTCTCAGCCTGGGCAACAGAACAAGACTTTCTCTAAAAAAAAAAAAAAAAAAAAAAAAAATATATATATATATATATATATATATATATATTTGTGCACTTGACTGGGTGCTTGTCATCTAAATAAAAAGTTGCAGCCAGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGACGAAGATGGGCAGATCTTCATCAAGGTCAAGAGATCGAGACCATCCTGGCCAATATGGTGAAACCCCGTCTCTACTAAAAATACAAAAATTATCTGGGCGTGGTGGCACGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCACGAGAATCACTTGAACCCGGGAGGAAGAGGTTGCAGTGAGCCAAGATCACACCACTGCACTCCAGCCCGTACGATACAGTGAGACCCCGTCTCAAAAAAAAAAAAAAGAAAAAGTTGCATGTAGGCCAAGTGCAGTGGCTCACACCTGTAATCTCAGCACTTTGGGAGGCCCAGGTGGGCAGACGACCTGAGGTCAGGAGTTCAAGACCAGCCTGGGCAACATGGTGAAACCTCATCTCTACAATTAATAAAAATACAGGCCGGGCACGGTGGCTCAAGCCTGTAATCCCAGCACTTTGGGAGGCTGAGGCGGGTGGATCACGAGGTCAGGAGATCGAGACCATCCTGGCTAACACGGTGAAACCCCGTCTCTACTAAATATACAAAAAATTAGCTGGGCGTTGTGGCGGGCTCTTGTAGTCCCAGATACTCGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCAGGGGGCGGAGCTTGCAGTGAGCCGAGATCACGCCATTGTACTCCAGCCTGGGCGACACAGTGAGACTCTGTCTCAAAAAAAATAAAAATAAAAAATAAAAAAATAAAAATAAAAATACAAAAAAATTAGCCAGGCGTTGTGGTGCATGCCTGTAGTCCCAGCTATTCGGGAGGCTGAGGCACGAGAATCACTTGAGCCCGAGACGCAGAGGTTGCAGTGAGCCGAGATCACGCCAGTGAGACTCTGTCTCAAAAAACAAAAAAAAAAGAAAGAAAGGAAAAAGAAAAAAAAATTGCACGCGAAGAATGCGT
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GCCTGGCATATGGGTACATGTTTAAGAAATATCTCTGACCACGTGTGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCCGAGGCTGGTGGATTATTTGAGGTCAGGAGTTCAAGACCAGCTTGGCCAACATGGTAAAACCCCATCTCTACTAAAAATACAAAAACTGGCTAGGCGTGGTGGTGCACGCCTGTAATCACAGCTACTTGGGAGGCTGAGACAGGAGAATTGCTTGAACCTGGGAGGTGGAGCTTGCAGTGAGCTGAGATCGTGCCATTGCACTCCAGCCTGGGTGACAGAGCAAGACTTCATCTCAAAAAAAAAGAAAGAAATATCTCTTGGCCAGATGCAGTGGCACACACCTGTAATCCCAGCACTTTGGGGGACCAAGGTAAGAGGATTGCTTGAAGCCAGGAGTTAGAGAGCAGCCTGGGCAACATAGCAAGACCCCATTTCTACAGAAGACTCTACGGAGTATGACTCAGGGCACCTGTTTTCAGCTACTCTGCATGTGCCTATAGTCCTAGCTACTCAGAAGGCTGAGGTGGGAAGAGCCCTGAGCCCAGGAGTTCAAGGCTGCAGTGAGCTACGATCATGCCCCTGCACTCCAGCCTGGGTGACAGGTGAATTTTTCTTCTTGTCTCTAAAAAAAATAATAATAAACAATTTAAAATAATAAAAATAAAAAATGAATATCTCTTTAACCAAAGAGCGAATTCAGCACACTCACCGAGGATTTGCTTACATTGCAAGCCCTATAGCTACAGAGAAACTGAGCGTTGCAGATAAGATGAACCCACACATAACTAGACTAACAGGTAAATGAGGACCAGCATCCCAAGAAGCACAAATCCAAACAGTACCCATTTCCTGAACACCTGCACATGCTGTTCATGTTGCCTCCCAATAGTCCCCAAAGCTAAGTGCTGTCACCCCATATAACAGAGAGGTTAAATGACTAAGACCTCGGTACCAAAAAGTGGGGACACAGGATGAACCTCCAAAACATGCTAACTAAAAGAAGCCAAACGTAATATGGGTCCATTTATATGAAATGTCCAAAATACATAAATCCAGAGAACAGTTGCCAGGGGCTGGAGGGCAGGTTGGGAGGTGGTGACTGCTTCATGGGTGTGAGATTTTCTTGGGGGCTGATGGAAGTCTTTTGGAACTAGGTAGAGGTGCTTGCACAACATTGTAAATCAACTAGATGACACCAAATTGTTTACCTTTTATAAATCTCACCTCAATTAAAAAAACAATTGTCGGTCGGGTGCAGTGCTCACACCTGTAAACCCAGACTTCGGGAGGCCGAGGCAGGCAGATCACGAGGTCAGGAGATCGAGACCATCCTGGCTAATGCAGTGAAAACCTGTCTCTACTACAAATATAAAAAATTAGCCGGGCATGGTGGCACATGCCTGTAGTCCCAGCTATCGGGAGGCTGAGGCAGAAGGATCCCTTGAACCCAGGAGAGGGAGGTTGCAGTGAGCTGAGATCATGCCACTGCACTCCAGCCTGGGCAACACAGAGAGACTCAGCCTCAAAATAAAAAAAAAATAAAAAAAATAAATTTAAGTGGTGGGAAAGAAACCAAAAAAGAAATAAATGAATAAATAAATAAATAAATAAATACAAAAGGTGGAGGCCCTGGGTGGGGTTCAAGCCCAGACTGATCTGACCCACAGCTCCACTGAAGGCTGTTTCCAAAGAGGGAGGCATGCTCTCCAAGCCTGGCTCCGCCCCCATTAGACCCAAATGGGACCGGAGGCTCTCCTTACCCTCTACCCCCAGCTGGCCCAGGGCCTACCTCGAAGAGCCAAATGAGGAGCGTGACGACACCCATGGAGTTCATGAGGCTGCTGTAGTAGCTCAGCAGGGCAGCCCTGCAGCCACGCACCCACAGGTTGAGCTCCTCCGTCTGGTGGTCGTAACTGTAGTGTGCTGAGTTGTTGGTGATCTGATACTGGATGCAGGGCCGTGGCGAGCTAGGATTGCAGCAGCTGAAAGGGACGCCGTCCACCAGGTACCGCCCATCCCCGTTGCTCTTGATTCGACTTAAAGGGAAACAGACAGCTGGAGATGGGCTTCCCGGGCTTCTCAACAGGGGCCACTTCCTCCCAACCCCTGCCTCTGGAAACCTAGAATAGTCATTCACTCGCACACTTGGTATATATTTGCTGTGCGCCCGCTACGTGCCAGTCACTGTTCTAGGCGCTGAAGACAAAAAAATGAATAAATGCCCCTGCCTTCCTCGACCTTGAGGTAGACGGTAATCCAAGACCCAAGTCAATAGGGAGTATAGAAATTCACCCAACCACTCTGTGCTGCCAGGCGCTTTCTTGGGGCCATGCCTGGTGCATAGGTGGGTAGGAGGAGCAGCAGGATGGGAGCTGTTGATGGACAAGCATCTGGCTGCCACTGGTGATGCCCACAGCTCCCTCACCAACCTCATCTCCCCCTTACAGGTCACTGGTGGCCAAGGCCCTTTCCAGCCAGGTGTTTCCAGAAGGCCTGCTCAGTCCCAGGGCCTGTGCAGAGGCAGGGGATGGAGACCCGAGGCAGGCACAGTCCTTGCCCTCGGAGGACTCCACCCCCAGCCAGGTGGGAGCTCCTGACTCACCTAAGGGACACAGCTGCAAGCAGGTTCTCCAGGCTGATGGGCGGGGCTCCCAGCATATCTTCTGCACTTCTATATTTTTGTGTGTATTTGTTTAGCGCTTACCATACATTCACACAGGTTCAGAATTCAAAAGGGATCTTTACAGTGAAAAGTCTCCCCTTCCCCTCAGGCAGGCTGGGTATGTTCTACCTGGCCTGGGGGTGATTACCCAGGTGTTTTATGGTCAAAACTCCCTGAGCTGCACACTTAAGATCCGTGCATTTGGCTGGGCATGGTGGCTCATGTCTGTAATCCCAGCACTTTGTAAGGCCGAGGCGGGAGCCCAGGAGTTCAAGGCAGCAGTGAGCTATGATCACACCACTGCTCTCAGCCTGGGCAACAGAACAAGACTTTCTCTAAAAAAAAAAAAAAAAAAAAAAAAAATATATATATATATATATATATATATATATATTTGTGCACTTGACTGGGTGCTTGTCATCTAAATAAAAAGTTGCAGCCAGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGACGAAGATGGGCAGATCTTCATCAAGGTCAAGAGATCGAGACCATCCTGGCCAATATGGTGAAACCCCGTCTCTACTAAAAATACAAAAATTATCTGGGCGTGGTGGCACGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCACGAGAATCACTTGAACCCGGGAGGAAGAGGTTGCAGTGAGCCAAGATCACACCACTGCACTCCAGCCCGTACGATACAGTGAGACCCCGTCTCAAAAAAAAAAAAAAGAAAAAGTTGCATGTAGGCCAAGTGCAGTGGCTCACACCTGTAATCTCAGCACTTTGGGAGGCCCAGGTGGGCAGACGACCTGAGGTCAGGAGTTCAAGACCAGCCTGGGCAACATGGTGAAACCTCATCTCTACAATTAATAAAAATACAGGCCGGGCACGGTGGCTCAAGCCTGTAATCCCAGCACTTTGGGAGGCTGAGGCGGGTGGATCACGAGGTCAGGAGATCGAGACCATCCTGGCTAACACGGTGAAACCCCGTCTCTACTAAATATACAAAAAATTAGCTGGGCGTTGTGGCGGGCTCTTGTAGTCCCAGATACTCGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCAGGGGGCGGAGCTTGCAGTGAGCCGAGATCACGCCATTGTACTCCAGCCTGGGCGACACAGTGAGACTCTGTCTCAAAAAAAATAAAAATAAAAAATAAAAAAATAAAAATAAAAATACAAAAAAATTAGCCAGGCGTTGTGGTGCATGCCTGTAGTCCCAGCTATTCGGGAGGCTGAGGCACGAGAATCACTTGAGCCCGAGACGCAGAGGTTGCAGTGAGCCGAGATCACGCCAGTGAGACTCTGTCTCAAAAAACAAAAAAAAAAGAAAGAAAGGAAAAAGAAAAAAAAATTGCACGCGAAGAATGCGT
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Task1_train_10308
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This alteration occurs within gene PRPH2 (peripherin 2) located on Chromosome 6. Is it associated with a disease or is it a benign variant?
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Pathogenic; not provided
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ATATGGGTACATGTTTAAGAAATATCTCTGACCACGTGTGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCCGAGGCTGGTGGATTATTTGAGGTCAGGAGTTCAAGACCAGCTTGGCCAACATGGTAAAACCCCATCTCTACTAAAAATACAAAAACTGGCTAGGCGTGGTGGTGCACGCCTGTAATCACAGCTACTTGGGAGGCTGAGACAGGAGAATTGCTTGAACCTGGGAGGTGGAGCTTGCAGTGAGCTGAGATCGTGCCATTGCACTCCAGCCTGGGTGACAGAGCAAGACTTCATCTCAAAAAAAAAGAAAGAAATATCTCTTGGCCAGATGCAGTGGCACACACCTGTAATCCCAGCACTTTGGGGGACCAAGGTAAGAGGATTGCTTGAAGCCAGGAGTTAGAGAGCAGCCTGGGCAACATAGCAAGACCCCATTTCTACAGAAGACTCTACGGAGTATGACTCAGGGCACCTGTTTTCAGCTACTCTGCATGTGCCTATAGTCCTAGCTACTCAGAAGGCTGAGGTGGGAAGAGCCCTGAGCCCAGGAGTTCAAGGCTGCAGTGAGCTACGATCATGCCCCTGCACTCCAGCCTGGGTGACAGGTGAATTTTTCTTCTTGTCTCTAAAAAAAATAATAATAAACAATTTAAAATAATAAAAATAAAAAATGAATATCTCTTTAACCAAAGAGCGAATTCAGCACACTCACCGAGGATTTGCTTACATTGCAAGCCCTATAGCTACAGAGAAACTGAGCGTTGCAGATAAGATGAACCCACACATAACTAGACTAACAGGTAAATGAGGACCAGCATCCCAAGAAGCACAAATCCAAACAGTACCCATTTCCTGAACACCTGCACATGCTGTTCATGTTGCCTCCCAATAGTCCCCAAAGCTAAGTGCTGTCACCCCATATAACAGAGAGGTTAAATGACTAAGACCTCGGTACCAAAAAGTGGGGACACAGGATGAACCTCCAAAACATGCTAACTAAAAGAAGCCAAACGTAATATGGGTCCATTTATATGAAATGTCCAAAATACATAAATCCAGAGAACAGTTGCCAGGGGCTGGAGGGCAGGTTGGGAGGTGGTGACTGCTTCATGGGTGTGAGATTTTCTTGGGGGCTGATGGAAGTCTTTTGGAACTAGGTAGAGGTGCTTGCACAACATTGTAAATCAACTAGATGACACCAAATTGTTTACCTTTTATAAATCTCACCTCAATTAAAAAAACAATTGTCGGTCGGGTGCAGTGCTCACACCTGTAAACCCAGACTTCGGGAGGCCGAGGCAGGCAGATCACGAGGTCAGGAGATCGAGACCATCCTGGCTAATGCAGTGAAAACCTGTCTCTACTACAAATATAAAAAATTAGCCGGGCATGGTGGCACATGCCTGTAGTCCCAGCTATCGGGAGGCTGAGGCAGAAGGATCCCTTGAACCCAGGAGAGGGAGGTTGCAGTGAGCTGAGATCATGCCACTGCACTCCAGCCTGGGCAACACAGAGAGACTCAGCCTCAAAATAAAAAAAAAATAAAAAAAATAAATTTAAGTGGTGGGAAAGAAACCAAAAAAGAAATAAATGAATAAATAAATAAATAAATAAATACAAAAGGTGGAGGCCCTGGGTGGGGTTCAAGCCCAGACTGATCTGACCCACAGCTCCACTGAAGGCTGTTTCCAAAGAGGGAGGCATGCTCTCCAAGCCTGGCTCCGCCCCCATTAGACCCAAATGGGACCGGAGGCTCTCCTTACCCTCTACCCCCAGCTGGCCCAGGGCCTACCTCGAAGAGCCAAATGAGGAGCGTGACGACACCCATGGAGTTCATGAGGCTGCTGTAGTAGCTCAGCAGGGCAGCCCTGCAGCCACGCACCCACAGGTTGAGCTCCTCCGTCTGGTGGTCGTAACTGTAGTGTGCTGAGTTGTTGGTGATCTGATACTGGATGCAGGGCCGTGGCGAGCTAGGATTGCAGCAGCTGAAAGGGACGCCGTCCACCAGGTACCGCCCATCCACGTTGCTCTTGATTCGACTTAAAGGGAAACAGACAGCTGGAGATGGGCTTCCCGGGCTTCTCAACAGGGGCCACTTCCTCCCAACCCCTGCCTCTGGAAACCTAGAATAGTCATTCACTCGCACACTTGGTATATATTTGCTGTGCGCCCGCTACGTGCCAGTCACTGTTCTAGGCGCTGAAGACAAAAAAATGAATAAATGCCCCTGCCTTCCTCGACCTTGAGGTAGACGGTAATCCAAGACCCAAGTCAATAGGGAGTATAGAAATTCACCCAACCACTCTGTGCTGCCAGGCGCTTTCTTGGGGCCATGCCTGGTGCATAGGTGGGTAGGAGGAGCAGCAGGATGGGAGCTGTTGATGGACAAGCATCTGGCTGCCACTGGTGATGCCCACAGCTCCCTCACCAACCTCATCTCCCCCTTACAGGTCACTGGTGGCCAAGGCCCTTTCCAGCCAGGTGTTTCCAGAAGGCCTGCTCAGTCCCAGGGCCTGTGCAGAGGCAGGGGATGGAGACCCGAGGCAGGCACAGTCCTTGCCCTCGGAGGACTCCACCCCCAGCCAGGTGGGAGCTCCTGACTCACCTAAGGGACACAGCTGCAAGCAGGTTCTCCAGGCTGATGGGCGGGGCTCCCAGCATATCTTCTGCACTTCTATATTTTTGTGTGTATTTGTTTAGCGCTTACCATACATTCACACAGGTTCAGAATTCAAAAGGGATCTTTACAGTGAAAAGTCTCCCCTTCCCCTCAGGCAGGCTGGGTATGTTCTACCTGGCCTGGGGGTGATTACCCAGGTGTTTTATGGTCAAAACTCCCTGAGCTGCACACTTAAGATCCGTGCATTTGGCTGGGCATGGTGGCTCATGTCTGTAATCCCAGCACTTTGTAAGGCCGAGGCGGGAGCCCAGGAGTTCAAGGCAGCAGTGAGCTATGATCACACCACTGCTCTCAGCCTGGGCAACAGAACAAGACTTTCTCTAAAAAAAAAAAAAAAAAAAAAAAAAATATATATATATATATATATATATATATATATTTGTGCACTTGACTGGGTGCTTGTCATCTAAATAAAAAGTTGCAGCCAGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGACGAAGATGGGCAGATCTTCATCAAGGTCAAGAGATCGAGACCATCCTGGCCAATATGGTGAAACCCCGTCTCTACTAAAAATACAAAAATTATCTGGGCGTGGTGGCACGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCACGAGAATCACTTGAACCCGGGAGGAAGAGGTTGCAGTGAGCCAAGATCACACCACTGCACTCCAGCCCGTACGATACAGTGAGACCCCGTCTCAAAAAAAAAAAAAAGAAAAAGTTGCATGTAGGCCAAGTGCAGTGGCTCACACCTGTAATCTCAGCACTTTGGGAGGCCCAGGTGGGCAGACGACCTGAGGTCAGGAGTTCAAGACCAGCCTGGGCAACATGGTGAAACCTCATCTCTACAATTAATAAAAATACAGGCCGGGCACGGTGGCTCAAGCCTGTAATCCCAGCACTTTGGGAGGCTGAGGCGGGTGGATCACGAGGTCAGGAGATCGAGACCATCCTGGCTAACACGGTGAAACCCCGTCTCTACTAAATATACAAAAAATTAGCTGGGCGTTGTGGCGGGCTCTTGTAGTCCCAGATACTCGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCAGGGGGCGGAGCTTGCAGTGAGCCGAGATCACGCCATTGTACTCCAGCCTGGGCGACACAGTGAGACTCTGTCTCAAAAAAAATAAAAATAAAAAATAAAAAAATAAAAATAAAAATACAAAAAAATTAGCCAGGCGTTGTGGTGCATGCCTGTAGTCCCAGCTATTCGGGAGGCTGAGGCACGAGAATCACTTGAGCCCGAGACGCAGAGGTTGCAGTGAGCCGAGATCACGCCAGTGAGACTCTGTCTCAAAAAACAAAAAAAAAAGAAAGAAAGGAAAAAGAAAAAAAAATTGCACGCGAAGAATGCGTTACATAA
|
ATATGGGTACATGTTTAAGAAATATCTCTGACCACGTGTGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCCGAGGCTGGTGGATTATTTGAGGTCAGGAGTTCAAGACCAGCTTGGCCAACATGGTAAAACCCCATCTCTACTAAAAATACAAAAACTGGCTAGGCGTGGTGGTGCACGCCTGTAATCACAGCTACTTGGGAGGCTGAGACAGGAGAATTGCTTGAACCTGGGAGGTGGAGCTTGCAGTGAGCTGAGATCGTGCCATTGCACTCCAGCCTGGGTGACAGAGCAAGACTTCATCTCAAAAAAAAAGAAAGAAATATCTCTTGGCCAGATGCAGTGGCACACACCTGTAATCCCAGCACTTTGGGGGACCAAGGTAAGAGGATTGCTTGAAGCCAGGAGTTAGAGAGCAGCCTGGGCAACATAGCAAGACCCCATTTCTACAGAAGACTCTACGGAGTATGACTCAGGGCACCTGTTTTCAGCTACTCTGCATGTGCCTATAGTCCTAGCTACTCAGAAGGCTGAGGTGGGAAGAGCCCTGAGCCCAGGAGTTCAAGGCTGCAGTGAGCTACGATCATGCCCCTGCACTCCAGCCTGGGTGACAGGTGAATTTTTCTTCTTGTCTCTAAAAAAAATAATAATAAACAATTTAAAATAATAAAAATAAAAAATGAATATCTCTTTAACCAAAGAGCGAATTCAGCACACTCACCGAGGATTTGCTTACATTGCAAGCCCTATAGCTACAGAGAAACTGAGCGTTGCAGATAAGATGAACCCACACATAACTAGACTAACAGGTAAATGAGGACCAGCATCCCAAGAAGCACAAATCCAAACAGTACCCATTTCCTGAACACCTGCACATGCTGTTCATGTTGCCTCCCAATAGTCCCCAAAGCTAAGTGCTGTCACCCCATATAACAGAGAGGTTAAATGACTAAGACCTCGGTACCAAAAAGTGGGGACACAGGATGAACCTCCAAAACATGCTAACTAAAAGAAGCCAAACGTAATATGGGTCCATTTATATGAAATGTCCAAAATACATAAATCCAGAGAACAGTTGCCAGGGGCTGGAGGGCAGGTTGGGAGGTGGTGACTGCTTCATGGGTGTGAGATTTTCTTGGGGGCTGATGGAAGTCTTTTGGAACTAGGTAGAGGTGCTTGCACAACATTGTAAATCAACTAGATGACACCAAATTGTTTACCTTTTATAAATCTCACCTCAATTAAAAAAACAATTGTCGGTCGGGTGCAGTGCTCACACCTGTAAACCCAGACTTCGGGAGGCCGAGGCAGGCAGATCACGAGGTCAGGAGATCGAGACCATCCTGGCTAATGCAGTGAAAACCTGTCTCTACTACAAATATAAAAAATTAGCCGGGCATGGTGGCACATGCCTGTAGTCCCAGCTATCGGGAGGCTGAGGCAGAAGGATCCCTTGAACCCAGGAGAGGGAGGTTGCAGTGAGCTGAGATCATGCCACTGCACTCCAGCCTGGGCAACACAGAGAGACTCAGCCTCAAAATAAAAAAAAAATAAAAAAAATAAATTTAAGTGGTGGGAAAGAAACCAAAAAAGAAATAAATGAATAAATAAATAAATAAATAAATACAAAAGGTGGAGGCCCTGGGTGGGGTTCAAGCCCAGACTGATCTGACCCACAGCTCCACTGAAGGCTGTTTCCAAAGAGGGAGGCATGCTCTCCAAGCCTGGCTCCGCCCCCATTAGACCCAAATGGGACCGGAGGCTCTCCTTACCCTCTACCCCCAGCTGGCCCAGGGCCTACCTCGAAGAGCCAAATGAGGAGCGTGACGACACCCATGGAGTTCATGAGGCTGCTGTAGTAGCTCAGCAGGGCAGCCCTGCAGCCACGCACCCACAGGTTGAGCTCCTCCGTCTGGTGGTCGTAACTGTAGTGTGCTGAGTTGTTGGTGATCTGATACTGGATGCAGGGCCGTGGCGAGCTAGGATTGCAGCAGCTGAAAGGGACGCCGTCCACCAGGTACCGCCCATCCACGTTGCGCTTGATTCGACTTAAAGGGAAACAGACAGCTGGAGATGGGCTTCCCGGGCTTCTCAACAGGGGCCACTTCCTCCCAACCCCTGCCTCTGGAAACCTAGAATAGTCATTCACTCGCACACTTGGTATATATTTGCTGTGCGCCCGCTACGTGCCAGTCACTGTTCTAGGCGCTGAAGACAAAAAAATGAATAAATGCCCCTGCCTTCCTCGACCTTGAGGTAGACGGTAATCCAAGACCCAAGTCAATAGGGAGTATAGAAATTCACCCAACCACTCTGTGCTGCCAGGCGCTTTCTTGGGGCCATGCCTGGTGCATAGGTGGGTAGGAGGAGCAGCAGGATGGGAGCTGTTGATGGACAAGCATCTGGCTGCCACTGGTGATGCCCACAGCTCCCTCACCAACCTCATCTCCCCCTTACAGGTCACTGGTGGCCAAGGCCCTTTCCAGCCAGGTGTTTCCAGAAGGCCTGCTCAGTCCCAGGGCCTGTGCAGAGGCAGGGGATGGAGACCCGAGGCAGGCACAGTCCTTGCCCTCGGAGGACTCCACCCCCAGCCAGGTGGGAGCTCCTGACTCACCTAAGGGACACAGCTGCAAGCAGGTTCTCCAGGCTGATGGGCGGGGCTCCCAGCATATCTTCTGCACTTCTATATTTTTGTGTGTATTTGTTTAGCGCTTACCATACATTCACACAGGTTCAGAATTCAAAAGGGATCTTTACAGTGAAAAGTCTCCCCTTCCCCTCAGGCAGGCTGGGTATGTTCTACCTGGCCTGGGGGTGATTACCCAGGTGTTTTATGGTCAAAACTCCCTGAGCTGCACACTTAAGATCCGTGCATTTGGCTGGGCATGGTGGCTCATGTCTGTAATCCCAGCACTTTGTAAGGCCGAGGCGGGAGCCCAGGAGTTCAAGGCAGCAGTGAGCTATGATCACACCACTGCTCTCAGCCTGGGCAACAGAACAAGACTTTCTCTAAAAAAAAAAAAAAAAAAAAAAAAAATATATATATATATATATATATATATATATATTTGTGCACTTGACTGGGTGCTTGTCATCTAAATAAAAAGTTGCAGCCAGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGACGAAGATGGGCAGATCTTCATCAAGGTCAAGAGATCGAGACCATCCTGGCCAATATGGTGAAACCCCGTCTCTACTAAAAATACAAAAATTATCTGGGCGTGGTGGCACGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCACGAGAATCACTTGAACCCGGGAGGAAGAGGTTGCAGTGAGCCAAGATCACACCACTGCACTCCAGCCCGTACGATACAGTGAGACCCCGTCTCAAAAAAAAAAAAAAGAAAAAGTTGCATGTAGGCCAAGTGCAGTGGCTCACACCTGTAATCTCAGCACTTTGGGAGGCCCAGGTGGGCAGACGACCTGAGGTCAGGAGTTCAAGACCAGCCTGGGCAACATGGTGAAACCTCATCTCTACAATTAATAAAAATACAGGCCGGGCACGGTGGCTCAAGCCTGTAATCCCAGCACTTTGGGAGGCTGAGGCGGGTGGATCACGAGGTCAGGAGATCGAGACCATCCTGGCTAACACGGTGAAACCCCGTCTCTACTAAATATACAAAAAATTAGCTGGGCGTTGTGGCGGGCTCTTGTAGTCCCAGATACTCGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCAGGGGGCGGAGCTTGCAGTGAGCCGAGATCACGCCATTGTACTCCAGCCTGGGCGACACAGTGAGACTCTGTCTCAAAAAAAATAAAAATAAAAAATAAAAAAATAAAAATAAAAATACAAAAAAATTAGCCAGGCGTTGTGGTGCATGCCTGTAGTCCCAGCTATTCGGGAGGCTGAGGCACGAGAATCACTTGAGCCCGAGACGCAGAGGTTGCAGTGAGCCGAGATCACGCCAGTGAGACTCTGTCTCAAAAAACAAAAAAAAAAGAAAGAAAGGAAAAAGAAAAAAAAATTGCACGCGAAGAATGCGTTACATAA
|
Task1_train_10309
|
Gene PRPH2 (peripherin 2), found on Chromosome 6, is impacted by this variant. What is the biological outcome — benign or pathogenic?
|
Pathogenic; PRPH2-related disorder
|
ACATGTTTAAGAAATATCTCTGACCACGTGTGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCCGAGGCTGGTGGATTATTTGAGGTCAGGAGTTCAAGACCAGCTTGGCCAACATGGTAAAACCCCATCTCTACTAAAAATACAAAAACTGGCTAGGCGTGGTGGTGCACGCCTGTAATCACAGCTACTTGGGAGGCTGAGACAGGAGAATTGCTTGAACCTGGGAGGTGGAGCTTGCAGTGAGCTGAGATCGTGCCATTGCACTCCAGCCTGGGTGACAGAGCAAGACTTCATCTCAAAAAAAAAGAAAGAAATATCTCTTGGCCAGATGCAGTGGCACACACCTGTAATCCCAGCACTTTGGGGGACCAAGGTAAGAGGATTGCTTGAAGCCAGGAGTTAGAGAGCAGCCTGGGCAACATAGCAAGACCCCATTTCTACAGAAGACTCTACGGAGTATGACTCAGGGCACCTGTTTTCAGCTACTCTGCATGTGCCTATAGTCCTAGCTACTCAGAAGGCTGAGGTGGGAAGAGCCCTGAGCCCAGGAGTTCAAGGCTGCAGTGAGCTACGATCATGCCCCTGCACTCCAGCCTGGGTGACAGGTGAATTTTTCTTCTTGTCTCTAAAAAAAATAATAATAAACAATTTAAAATAATAAAAATAAAAAATGAATATCTCTTTAACCAAAGAGCGAATTCAGCACACTCACCGAGGATTTGCTTACATTGCAAGCCCTATAGCTACAGAGAAACTGAGCGTTGCAGATAAGATGAACCCACACATAACTAGACTAACAGGTAAATGAGGACCAGCATCCCAAGAAGCACAAATCCAAACAGTACCCATTTCCTGAACACCTGCACATGCTGTTCATGTTGCCTCCCAATAGTCCCCAAAGCTAAGTGCTGTCACCCCATATAACAGAGAGGTTAAATGACTAAGACCTCGGTACCAAAAAGTGGGGACACAGGATGAACCTCCAAAACATGCTAACTAAAAGAAGCCAAACGTAATATGGGTCCATTTATATGAAATGTCCAAAATACATAAATCCAGAGAACAGTTGCCAGGGGCTGGAGGGCAGGTTGGGAGGTGGTGACTGCTTCATGGGTGTGAGATTTTCTTGGGGGCTGATGGAAGTCTTTTGGAACTAGGTAGAGGTGCTTGCACAACATTGTAAATCAACTAGATGACACCAAATTGTTTACCTTTTATAAATCTCACCTCAATTAAAAAAACAATTGTCGGTCGGGTGCAGTGCTCACACCTGTAAACCCAGACTTCGGGAGGCCGAGGCAGGCAGATCACGAGGTCAGGAGATCGAGACCATCCTGGCTAATGCAGTGAAAACCTGTCTCTACTACAAATATAAAAAATTAGCCGGGCATGGTGGCACATGCCTGTAGTCCCAGCTATCGGGAGGCTGAGGCAGAAGGATCCCTTGAACCCAGGAGAGGGAGGTTGCAGTGAGCTGAGATCATGCCACTGCACTCCAGCCTGGGCAACACAGAGAGACTCAGCCTCAAAATAAAAAAAAAATAAAAAAAATAAATTTAAGTGGTGGGAAAGAAACCAAAAAAGAAATAAATGAATAAATAAATAAATAAATAAATACAAAAGGTGGAGGCCCTGGGTGGGGTTCAAGCCCAGACTGATCTGACCCACAGCTCCACTGAAGGCTGTTTCCAAAGAGGGAGGCATGCTCTCCAAGCCTGGCTCCGCCCCCATTAGACCCAAATGGGACCGGAGGCTCTCCTTACCCTCTACCCCCAGCTGGCCCAGGGCCTACCTCGAAGAGCCAAATGAGGAGCGTGACGACACCCATGGAGTTCATGAGGCTGCTGTAGTAGCTCAGCAGGGCAGCCCTGCAGCCACGCACCCACAGGTTGAGCTCCTCCGTCTGGTGGTCGTAACTGTAGTGTGCTGAGTTGTTGGTGATCTGATACTGGATGCAGGGCCGTGGCGAGCTAGGATTGCAGCAGCTGAAAGGGACGCCGTCCACCAGGTACCGCCCATCCACGTTGCTCTTGATTCGACTTAAAGGGAAACAGACAGCTGGAGATGGGCTTCCCGGGCTTCTCAACAGGGGCCACTTCCTCCCAACCCCTGCCTCTGGAAACCTAGAATAGTCATTCACTCGCACACTTGGTATATATTTGCTGTGCGCCCGCTACGTGCCAGTCACTGTTCTAGGCGCTGAAGACAAAAAAATGAATAAATGCCCCTGCCTTCCTCGACCTTGAGGTAGACGGTAATCCAAGACCCAAGTCAATAGGGAGTATAGAAATTCACCCAACCACTCTGTGCTGCCAGGCGCTTTCTTGGGGCCATGCCTGGTGCATAGGTGGGTAGGAGGAGCAGCAGGATGGGAGCTGTTGATGGACAAGCATCTGGCTGCCACTGGTGATGCCCACAGCTCCCTCACCAACCTCATCTCCCCCTTACAGGTCACTGGTGGCCAAGGCCCTTTCCAGCCAGGTGTTTCCAGAAGGCCTGCTCAGTCCCAGGGCCTGTGCAGAGGCAGGGGATGGAGACCCGAGGCAGGCACAGTCCTTGCCCTCGGAGGACTCCACCCCCAGCCAGGTGGGAGCTCCTGACTCACCTAAGGGACACAGCTGCAAGCAGGTTCTCCAGGCTGATGGGCGGGGCTCCCAGCATATCTTCTGCACTTCTATATTTTTGTGTGTATTTGTTTAGCGCTTACCATACATTCACACAGGTTCAGAATTCAAAAGGGATCTTTACAGTGAAAAGTCTCCCCTTCCCCTCAGGCAGGCTGGGTATGTTCTACCTGGCCTGGGGGTGATTACCCAGGTGTTTTATGGTCAAAACTCCCTGAGCTGCACACTTAAGATCCGTGCATTTGGCTGGGCATGGTGGCTCATGTCTGTAATCCCAGCACTTTGTAAGGCCGAGGCGGGAGCCCAGGAGTTCAAGGCAGCAGTGAGCTATGATCACACCACTGCTCTCAGCCTGGGCAACAGAACAAGACTTTCTCTAAAAAAAAAAAAAAAAAAAAAAAAAATATATATATATATATATATATATATATATATTTGTGCACTTGACTGGGTGCTTGTCATCTAAATAAAAAGTTGCAGCCAGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGACGAAGATGGGCAGATCTTCATCAAGGTCAAGAGATCGAGACCATCCTGGCCAATATGGTGAAACCCCGTCTCTACTAAAAATACAAAAATTATCTGGGCGTGGTGGCACGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCACGAGAATCACTTGAACCCGGGAGGAAGAGGTTGCAGTGAGCCAAGATCACACCACTGCACTCCAGCCCGTACGATACAGTGAGACCCCGTCTCAAAAAAAAAAAAAAGAAAAAGTTGCATGTAGGCCAAGTGCAGTGGCTCACACCTGTAATCTCAGCACTTTGGGAGGCCCAGGTGGGCAGACGACCTGAGGTCAGGAGTTCAAGACCAGCCTGGGCAACATGGTGAAACCTCATCTCTACAATTAATAAAAATACAGGCCGGGCACGGTGGCTCAAGCCTGTAATCCCAGCACTTTGGGAGGCTGAGGCGGGTGGATCACGAGGTCAGGAGATCGAGACCATCCTGGCTAACACGGTGAAACCCCGTCTCTACTAAATATACAAAAAATTAGCTGGGCGTTGTGGCGGGCTCTTGTAGTCCCAGATACTCGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCAGGGGGCGGAGCTTGCAGTGAGCCGAGATCACGCCATTGTACTCCAGCCTGGGCGACACAGTGAGACTCTGTCTCAAAAAAAATAAAAATAAAAAATAAAAAAATAAAAATAAAAATACAAAAAAATTAGCCAGGCGTTGTGGTGCATGCCTGTAGTCCCAGCTATTCGGGAGGCTGAGGCACGAGAATCACTTGAGCCCGAGACGCAGAGGTTGCAGTGAGCCGAGATCACGCCAGTGAGACTCTGTCTCAAAAAACAAAAAAAAAAGAAAGAAAGGAAAAAGAAAAAAAAATTGCACGCGAAGAATGCGTTACATAATAGACTTT
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ACATGTTTAAGAAATATCTCTGACCACGTGTGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCCGAGGCTGGTGGATTATTTGAGGTCAGGAGTTCAAGACCAGCTTGGCCAACATGGTAAAACCCCATCTCTACTAAAAATACAAAAACTGGCTAGGCGTGGTGGTGCACGCCTGTAATCACAGCTACTTGGGAGGCTGAGACAGGAGAATTGCTTGAACCTGGGAGGTGGAGCTTGCAGTGAGCTGAGATCGTGCCATTGCACTCCAGCCTGGGTGACAGAGCAAGACTTCATCTCAAAAAAAAAGAAAGAAATATCTCTTGGCCAGATGCAGTGGCACACACCTGTAATCCCAGCACTTTGGGGGACCAAGGTAAGAGGATTGCTTGAAGCCAGGAGTTAGAGAGCAGCCTGGGCAACATAGCAAGACCCCATTTCTACAGAAGACTCTACGGAGTATGACTCAGGGCACCTGTTTTCAGCTACTCTGCATGTGCCTATAGTCCTAGCTACTCAGAAGGCTGAGGTGGGAAGAGCCCTGAGCCCAGGAGTTCAAGGCTGCAGTGAGCTACGATCATGCCCCTGCACTCCAGCCTGGGTGACAGGTGAATTTTTCTTCTTGTCTCTAAAAAAAATAATAATAAACAATTTAAAATAATAAAAATAAAAAATGAATATCTCTTTAACCAAAGAGCGAATTCAGCACACTCACCGAGGATTTGCTTACATTGCAAGCCCTATAGCTACAGAGAAACTGAGCGTTGCAGATAAGATGAACCCACACATAACTAGACTAACAGGTAAATGAGGACCAGCATCCCAAGAAGCACAAATCCAAACAGTACCCATTTCCTGAACACCTGCACATGCTGTTCATGTTGCCTCCCAATAGTCCCCAAAGCTAAGTGCTGTCACCCCATATAACAGAGAGGTTAAATGACTAAGACCTCGGTACCAAAAAGTGGGGACACAGGATGAACCTCCAAAACATGCTAACTAAAAGAAGCCAAACGTAATATGGGTCCATTTATATGAAATGTCCAAAATACATAAATCCAGAGAACAGTTGCCAGGGGCTGGAGGGCAGGTTGGGAGGTGGTGACTGCTTCATGGGTGTGAGATTTTCTTGGGGGCTGATGGAAGTCTTTTGGAACTAGGTAGAGGTGCTTGCACAACATTGTAAATCAACTAGATGACACCAAATTGTTTACCTTTTATAAATCTCACCTCAATTAAAAAAACAATTGTCGGTCGGGTGCAGTGCTCACACCTGTAAACCCAGACTTCGGGAGGCCGAGGCAGGCAGATCACGAGGTCAGGAGATCGAGACCATCCTGGCTAATGCAGTGAAAACCTGTCTCTACTACAAATATAAAAAATTAGCCGGGCATGGTGGCACATGCCTGTAGTCCCAGCTATCGGGAGGCTGAGGCAGAAGGATCCCTTGAACCCAGGAGAGGGAGGTTGCAGTGAGCTGAGATCATGCCACTGCACTCCAGCCTGGGCAACACAGAGAGACTCAGCCTCAAAATAAAAAAAAAATAAAAAAAATAAATTTAAGTGGTGGGAAAGAAACCAAAAAAGAAATAAATGAATAAATAAATAAATAAATAAATACAAAAGGTGGAGGCCCTGGGTGGGGTTCAAGCCCAGACTGATCTGACCCACAGCTCCACTGAAGGCTGTTTCCAAAGAGGGAGGCATGCTCTCCAAGCCTGGCTCCGCCCCCATTAGACCCAAATGGGACCGGAGGCTCTCCTTACCCTCTACCCCCAGCTGGCCCAGGGCCTACCTCGAAGAGCCAAATGAGGAGCGTGACGACACCCATGGAGTTCATGAGGCTGCTGTAGTAGCTCAGCAGGGCAGCCCTGCAGCCACGCACCCACAGGTTGAGCTCCTCCGTCTGGTGGTCGTAACTGTAGTGTGCTGAGTTGTTGGTGATCTGATACTGGATGCAGGGCCGTGGCGAGCTAGGATTGCAGCAGCTGAAAGGGACGCCGTCCACCAGGTACCGCCCATCCACGTTGCTCTTGATTAGACTTAAAGGGAAACAGACAGCTGGAGATGGGCTTCCCGGGCTTCTCAACAGGGGCCACTTCCTCCCAACCCCTGCCTCTGGAAACCTAGAATAGTCATTCACTCGCACACTTGGTATATATTTGCTGTGCGCCCGCTACGTGCCAGTCACTGTTCTAGGCGCTGAAGACAAAAAAATGAATAAATGCCCCTGCCTTCCTCGACCTTGAGGTAGACGGTAATCCAAGACCCAAGTCAATAGGGAGTATAGAAATTCACCCAACCACTCTGTGCTGCCAGGCGCTTTCTTGGGGCCATGCCTGGTGCATAGGTGGGTAGGAGGAGCAGCAGGATGGGAGCTGTTGATGGACAAGCATCTGGCTGCCACTGGTGATGCCCACAGCTCCCTCACCAACCTCATCTCCCCCTTACAGGTCACTGGTGGCCAAGGCCCTTTCCAGCCAGGTGTTTCCAGAAGGCCTGCTCAGTCCCAGGGCCTGTGCAGAGGCAGGGGATGGAGACCCGAGGCAGGCACAGTCCTTGCCCTCGGAGGACTCCACCCCCAGCCAGGTGGGAGCTCCTGACTCACCTAAGGGACACAGCTGCAAGCAGGTTCTCCAGGCTGATGGGCGGGGCTCCCAGCATATCTTCTGCACTTCTATATTTTTGTGTGTATTTGTTTAGCGCTTACCATACATTCACACAGGTTCAGAATTCAAAAGGGATCTTTACAGTGAAAAGTCTCCCCTTCCCCTCAGGCAGGCTGGGTATGTTCTACCTGGCCTGGGGGTGATTACCCAGGTGTTTTATGGTCAAAACTCCCTGAGCTGCACACTTAAGATCCGTGCATTTGGCTGGGCATGGTGGCTCATGTCTGTAATCCCAGCACTTTGTAAGGCCGAGGCGGGAGCCCAGGAGTTCAAGGCAGCAGTGAGCTATGATCACACCACTGCTCTCAGCCTGGGCAACAGAACAAGACTTTCTCTAAAAAAAAAAAAAAAAAAAAAAAAAATATATATATATATATATATATATATATATATTTGTGCACTTGACTGGGTGCTTGTCATCTAAATAAAAAGTTGCAGCCAGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGACGAAGATGGGCAGATCTTCATCAAGGTCAAGAGATCGAGACCATCCTGGCCAATATGGTGAAACCCCGTCTCTACTAAAAATACAAAAATTATCTGGGCGTGGTGGCACGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCACGAGAATCACTTGAACCCGGGAGGAAGAGGTTGCAGTGAGCCAAGATCACACCACTGCACTCCAGCCCGTACGATACAGTGAGACCCCGTCTCAAAAAAAAAAAAAAGAAAAAGTTGCATGTAGGCCAAGTGCAGTGGCTCACACCTGTAATCTCAGCACTTTGGGAGGCCCAGGTGGGCAGACGACCTGAGGTCAGGAGTTCAAGACCAGCCTGGGCAACATGGTGAAACCTCATCTCTACAATTAATAAAAATACAGGCCGGGCACGGTGGCTCAAGCCTGTAATCCCAGCACTTTGGGAGGCTGAGGCGGGTGGATCACGAGGTCAGGAGATCGAGACCATCCTGGCTAACACGGTGAAACCCCGTCTCTACTAAATATACAAAAAATTAGCTGGGCGTTGTGGCGGGCTCTTGTAGTCCCAGATACTCGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCAGGGGGCGGAGCTTGCAGTGAGCCGAGATCACGCCATTGTACTCCAGCCTGGGCGACACAGTGAGACTCTGTCTCAAAAAAAATAAAAATAAAAAATAAAAAAATAAAAATAAAAATACAAAAAAATTAGCCAGGCGTTGTGGTGCATGCCTGTAGTCCCAGCTATTCGGGAGGCTGAGGCACGAGAATCACTTGAGCCCGAGACGCAGAGGTTGCAGTGAGCCGAGATCACGCCAGTGAGACTCTGTCTCAAAAAACAAAAAAAAAAGAAAGAAAGGAAAAAGAAAAAAAAATTGCACGCGAAGAATGCGTTACATAATAGACTTT
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Task1_train_10310
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Gene PRPH2 (peripherin 2), found on Chromosome 6, is impacted by this variant. What is the biological outcome — benign or pathogenic?
|
Pathogenic; Retinal dystrophy
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ACATGTTTAAGAAATATCTCTGACCACGTGTGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCCGAGGCTGGTGGATTATTTGAGGTCAGGAGTTCAAGACCAGCTTGGCCAACATGGTAAAACCCCATCTCTACTAAAAATACAAAAACTGGCTAGGCGTGGTGGTGCACGCCTGTAATCACAGCTACTTGGGAGGCTGAGACAGGAGAATTGCTTGAACCTGGGAGGTGGAGCTTGCAGTGAGCTGAGATCGTGCCATTGCACTCCAGCCTGGGTGACAGAGCAAGACTTCATCTCAAAAAAAAAGAAAGAAATATCTCTTGGCCAGATGCAGTGGCACACACCTGTAATCCCAGCACTTTGGGGGACCAAGGTAAGAGGATTGCTTGAAGCCAGGAGTTAGAGAGCAGCCTGGGCAACATAGCAAGACCCCATTTCTACAGAAGACTCTACGGAGTATGACTCAGGGCACCTGTTTTCAGCTACTCTGCATGTGCCTATAGTCCTAGCTACTCAGAAGGCTGAGGTGGGAAGAGCCCTGAGCCCAGGAGTTCAAGGCTGCAGTGAGCTACGATCATGCCCCTGCACTCCAGCCTGGGTGACAGGTGAATTTTTCTTCTTGTCTCTAAAAAAAATAATAATAAACAATTTAAAATAATAAAAATAAAAAATGAATATCTCTTTAACCAAAGAGCGAATTCAGCACACTCACCGAGGATTTGCTTACATTGCAAGCCCTATAGCTACAGAGAAACTGAGCGTTGCAGATAAGATGAACCCACACATAACTAGACTAACAGGTAAATGAGGACCAGCATCCCAAGAAGCACAAATCCAAACAGTACCCATTTCCTGAACACCTGCACATGCTGTTCATGTTGCCTCCCAATAGTCCCCAAAGCTAAGTGCTGTCACCCCATATAACAGAGAGGTTAAATGACTAAGACCTCGGTACCAAAAAGTGGGGACACAGGATGAACCTCCAAAACATGCTAACTAAAAGAAGCCAAACGTAATATGGGTCCATTTATATGAAATGTCCAAAATACATAAATCCAGAGAACAGTTGCCAGGGGCTGGAGGGCAGGTTGGGAGGTGGTGACTGCTTCATGGGTGTGAGATTTTCTTGGGGGCTGATGGAAGTCTTTTGGAACTAGGTAGAGGTGCTTGCACAACATTGTAAATCAACTAGATGACACCAAATTGTTTACCTTTTATAAATCTCACCTCAATTAAAAAAACAATTGTCGGTCGGGTGCAGTGCTCACACCTGTAAACCCAGACTTCGGGAGGCCGAGGCAGGCAGATCACGAGGTCAGGAGATCGAGACCATCCTGGCTAATGCAGTGAAAACCTGTCTCTACTACAAATATAAAAAATTAGCCGGGCATGGTGGCACATGCCTGTAGTCCCAGCTATCGGGAGGCTGAGGCAGAAGGATCCCTTGAACCCAGGAGAGGGAGGTTGCAGTGAGCTGAGATCATGCCACTGCACTCCAGCCTGGGCAACACAGAGAGACTCAGCCTCAAAATAAAAAAAAAATAAAAAAAATAAATTTAAGTGGTGGGAAAGAAACCAAAAAAGAAATAAATGAATAAATAAATAAATAAATAAATACAAAAGGTGGAGGCCCTGGGTGGGGTTCAAGCCCAGACTGATCTGACCCACAGCTCCACTGAAGGCTGTTTCCAAAGAGGGAGGCATGCTCTCCAAGCCTGGCTCCGCCCCCATTAGACCCAAATGGGACCGGAGGCTCTCCTTACCCTCTACCCCCAGCTGGCCCAGGGCCTACCTCGAAGAGCCAAATGAGGAGCGTGACGACACCCATGGAGTTCATGAGGCTGCTGTAGTAGCTCAGCAGGGCAGCCCTGCAGCCACGCACCCACAGGTTGAGCTCCTCCGTCTGGTGGTCGTAACTGTAGTGTGCTGAGTTGTTGGTGATCTGATACTGGATGCAGGGCCGTGGCGAGCTAGGATTGCAGCAGCTGAAAGGGACGCCGTCCACCAGGTACCGCCCATCCACGTTGCTCTTGATTCGACTTAAAGGGAAACAGACAGCTGGAGATGGGCTTCCCGGGCTTCTCAACAGGGGCCACTTCCTCCCAACCCCTGCCTCTGGAAACCTAGAATAGTCATTCACTCGCACACTTGGTATATATTTGCTGTGCGCCCGCTACGTGCCAGTCACTGTTCTAGGCGCTGAAGACAAAAAAATGAATAAATGCCCCTGCCTTCCTCGACCTTGAGGTAGACGGTAATCCAAGACCCAAGTCAATAGGGAGTATAGAAATTCACCCAACCACTCTGTGCTGCCAGGCGCTTTCTTGGGGCCATGCCTGGTGCATAGGTGGGTAGGAGGAGCAGCAGGATGGGAGCTGTTGATGGACAAGCATCTGGCTGCCACTGGTGATGCCCACAGCTCCCTCACCAACCTCATCTCCCCCTTACAGGTCACTGGTGGCCAAGGCCCTTTCCAGCCAGGTGTTTCCAGAAGGCCTGCTCAGTCCCAGGGCCTGTGCAGAGGCAGGGGATGGAGACCCGAGGCAGGCACAGTCCTTGCCCTCGGAGGACTCCACCCCCAGCCAGGTGGGAGCTCCTGACTCACCTAAGGGACACAGCTGCAAGCAGGTTCTCCAGGCTGATGGGCGGGGCTCCCAGCATATCTTCTGCACTTCTATATTTTTGTGTGTATTTGTTTAGCGCTTACCATACATTCACACAGGTTCAGAATTCAAAAGGGATCTTTACAGTGAAAAGTCTCCCCTTCCCCTCAGGCAGGCTGGGTATGTTCTACCTGGCCTGGGGGTGATTACCCAGGTGTTTTATGGTCAAAACTCCCTGAGCTGCACACTTAAGATCCGTGCATTTGGCTGGGCATGGTGGCTCATGTCTGTAATCCCAGCACTTTGTAAGGCCGAGGCGGGAGCCCAGGAGTTCAAGGCAGCAGTGAGCTATGATCACACCACTGCTCTCAGCCTGGGCAACAGAACAAGACTTTCTCTAAAAAAAAAAAAAAAAAAAAAAAAAATATATATATATATATATATATATATATATATTTGTGCACTTGACTGGGTGCTTGTCATCTAAATAAAAAGTTGCAGCCAGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGACGAAGATGGGCAGATCTTCATCAAGGTCAAGAGATCGAGACCATCCTGGCCAATATGGTGAAACCCCGTCTCTACTAAAAATACAAAAATTATCTGGGCGTGGTGGCACGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCACGAGAATCACTTGAACCCGGGAGGAAGAGGTTGCAGTGAGCCAAGATCACACCACTGCACTCCAGCCCGTACGATACAGTGAGACCCCGTCTCAAAAAAAAAAAAAAGAAAAAGTTGCATGTAGGCCAAGTGCAGTGGCTCACACCTGTAATCTCAGCACTTTGGGAGGCCCAGGTGGGCAGACGACCTGAGGTCAGGAGTTCAAGACCAGCCTGGGCAACATGGTGAAACCTCATCTCTACAATTAATAAAAATACAGGCCGGGCACGGTGGCTCAAGCCTGTAATCCCAGCACTTTGGGAGGCTGAGGCGGGTGGATCACGAGGTCAGGAGATCGAGACCATCCTGGCTAACACGGTGAAACCCCGTCTCTACTAAATATACAAAAAATTAGCTGGGCGTTGTGGCGGGCTCTTGTAGTCCCAGATACTCGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCAGGGGGCGGAGCTTGCAGTGAGCCGAGATCACGCCATTGTACTCCAGCCTGGGCGACACAGTGAGACTCTGTCTCAAAAAAAATAAAAATAAAAAATAAAAAAATAAAAATAAAAATACAAAAAAATTAGCCAGGCGTTGTGGTGCATGCCTGTAGTCCCAGCTATTCGGGAGGCTGAGGCACGAGAATCACTTGAGCCCGAGACGCAGAGGTTGCAGTGAGCCGAGATCACGCCAGTGAGACTCTGTCTCAAAAAACAAAAAAAAAAGAAAGAAAGGAAAAAGAAAAAAAAATTGCACGCGAAGAATGCGTTACATAATAGACTTT
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ACATGTTTAAGAAATATCTCTGACCACGTGTGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCCGAGGCTGGTGGATTATTTGAGGTCAGGAGTTCAAGACCAGCTTGGCCAACATGGTAAAACCCCATCTCTACTAAAAATACAAAAACTGGCTAGGCGTGGTGGTGCACGCCTGTAATCACAGCTACTTGGGAGGCTGAGACAGGAGAATTGCTTGAACCTGGGAGGTGGAGCTTGCAGTGAGCTGAGATCGTGCCATTGCACTCCAGCCTGGGTGACAGAGCAAGACTTCATCTCAAAAAAAAAGAAAGAAATATCTCTTGGCCAGATGCAGTGGCACACACCTGTAATCCCAGCACTTTGGGGGACCAAGGTAAGAGGATTGCTTGAAGCCAGGAGTTAGAGAGCAGCCTGGGCAACATAGCAAGACCCCATTTCTACAGAAGACTCTACGGAGTATGACTCAGGGCACCTGTTTTCAGCTACTCTGCATGTGCCTATAGTCCTAGCTACTCAGAAGGCTGAGGTGGGAAGAGCCCTGAGCCCAGGAGTTCAAGGCTGCAGTGAGCTACGATCATGCCCCTGCACTCCAGCCTGGGTGACAGGTGAATTTTTCTTCTTGTCTCTAAAAAAAATAATAATAAACAATTTAAAATAATAAAAATAAAAAATGAATATCTCTTTAACCAAAGAGCGAATTCAGCACACTCACCGAGGATTTGCTTACATTGCAAGCCCTATAGCTACAGAGAAACTGAGCGTTGCAGATAAGATGAACCCACACATAACTAGACTAACAGGTAAATGAGGACCAGCATCCCAAGAAGCACAAATCCAAACAGTACCCATTTCCTGAACACCTGCACATGCTGTTCATGTTGCCTCCCAATAGTCCCCAAAGCTAAGTGCTGTCACCCCATATAACAGAGAGGTTAAATGACTAAGACCTCGGTACCAAAAAGTGGGGACACAGGATGAACCTCCAAAACATGCTAACTAAAAGAAGCCAAACGTAATATGGGTCCATTTATATGAAATGTCCAAAATACATAAATCCAGAGAACAGTTGCCAGGGGCTGGAGGGCAGGTTGGGAGGTGGTGACTGCTTCATGGGTGTGAGATTTTCTTGGGGGCTGATGGAAGTCTTTTGGAACTAGGTAGAGGTGCTTGCACAACATTGTAAATCAACTAGATGACACCAAATTGTTTACCTTTTATAAATCTCACCTCAATTAAAAAAACAATTGTCGGTCGGGTGCAGTGCTCACACCTGTAAACCCAGACTTCGGGAGGCCGAGGCAGGCAGATCACGAGGTCAGGAGATCGAGACCATCCTGGCTAATGCAGTGAAAACCTGTCTCTACTACAAATATAAAAAATTAGCCGGGCATGGTGGCACATGCCTGTAGTCCCAGCTATCGGGAGGCTGAGGCAGAAGGATCCCTTGAACCCAGGAGAGGGAGGTTGCAGTGAGCTGAGATCATGCCACTGCACTCCAGCCTGGGCAACACAGAGAGACTCAGCCTCAAAATAAAAAAAAAATAAAAAAAATAAATTTAAGTGGTGGGAAAGAAACCAAAAAAGAAATAAATGAATAAATAAATAAATAAATAAATACAAAAGGTGGAGGCCCTGGGTGGGGTTCAAGCCCAGACTGATCTGACCCACAGCTCCACTGAAGGCTGTTTCCAAAGAGGGAGGCATGCTCTCCAAGCCTGGCTCCGCCCCCATTAGACCCAAATGGGACCGGAGGCTCTCCTTACCCTCTACCCCCAGCTGGCCCAGGGCCTACCTCGAAGAGCCAAATGAGGAGCGTGACGACACCCATGGAGTTCATGAGGCTGCTGTAGTAGCTCAGCAGGGCAGCCCTGCAGCCACGCACCCACAGGTTGAGCTCCTCCGTCTGGTGGTCGTAACTGTAGTGTGCTGAGTTGTTGGTGATCTGATACTGGATGCAGGGCCGTGGCGAGCTAGGATTGCAGCAGCTGAAAGGGACGCCGTCCACCAGGTACCGCCCATCCACGTTGCTCTTGATTAGACTTAAAGGGAAACAGACAGCTGGAGATGGGCTTCCCGGGCTTCTCAACAGGGGCCACTTCCTCCCAACCCCTGCCTCTGGAAACCTAGAATAGTCATTCACTCGCACACTTGGTATATATTTGCTGTGCGCCCGCTACGTGCCAGTCACTGTTCTAGGCGCTGAAGACAAAAAAATGAATAAATGCCCCTGCCTTCCTCGACCTTGAGGTAGACGGTAATCCAAGACCCAAGTCAATAGGGAGTATAGAAATTCACCCAACCACTCTGTGCTGCCAGGCGCTTTCTTGGGGCCATGCCTGGTGCATAGGTGGGTAGGAGGAGCAGCAGGATGGGAGCTGTTGATGGACAAGCATCTGGCTGCCACTGGTGATGCCCACAGCTCCCTCACCAACCTCATCTCCCCCTTACAGGTCACTGGTGGCCAAGGCCCTTTCCAGCCAGGTGTTTCCAGAAGGCCTGCTCAGTCCCAGGGCCTGTGCAGAGGCAGGGGATGGAGACCCGAGGCAGGCACAGTCCTTGCCCTCGGAGGACTCCACCCCCAGCCAGGTGGGAGCTCCTGACTCACCTAAGGGACACAGCTGCAAGCAGGTTCTCCAGGCTGATGGGCGGGGCTCCCAGCATATCTTCTGCACTTCTATATTTTTGTGTGTATTTGTTTAGCGCTTACCATACATTCACACAGGTTCAGAATTCAAAAGGGATCTTTACAGTGAAAAGTCTCCCCTTCCCCTCAGGCAGGCTGGGTATGTTCTACCTGGCCTGGGGGTGATTACCCAGGTGTTTTATGGTCAAAACTCCCTGAGCTGCACACTTAAGATCCGTGCATTTGGCTGGGCATGGTGGCTCATGTCTGTAATCCCAGCACTTTGTAAGGCCGAGGCGGGAGCCCAGGAGTTCAAGGCAGCAGTGAGCTATGATCACACCACTGCTCTCAGCCTGGGCAACAGAACAAGACTTTCTCTAAAAAAAAAAAAAAAAAAAAAAAAAATATATATATATATATATATATATATATATATTTGTGCACTTGACTGGGTGCTTGTCATCTAAATAAAAAGTTGCAGCCAGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGACGAAGATGGGCAGATCTTCATCAAGGTCAAGAGATCGAGACCATCCTGGCCAATATGGTGAAACCCCGTCTCTACTAAAAATACAAAAATTATCTGGGCGTGGTGGCACGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCACGAGAATCACTTGAACCCGGGAGGAAGAGGTTGCAGTGAGCCAAGATCACACCACTGCACTCCAGCCCGTACGATACAGTGAGACCCCGTCTCAAAAAAAAAAAAAAGAAAAAGTTGCATGTAGGCCAAGTGCAGTGGCTCACACCTGTAATCTCAGCACTTTGGGAGGCCCAGGTGGGCAGACGACCTGAGGTCAGGAGTTCAAGACCAGCCTGGGCAACATGGTGAAACCTCATCTCTACAATTAATAAAAATACAGGCCGGGCACGGTGGCTCAAGCCTGTAATCCCAGCACTTTGGGAGGCTGAGGCGGGTGGATCACGAGGTCAGGAGATCGAGACCATCCTGGCTAACACGGTGAAACCCCGTCTCTACTAAATATACAAAAAATTAGCTGGGCGTTGTGGCGGGCTCTTGTAGTCCCAGATACTCGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCAGGGGGCGGAGCTTGCAGTGAGCCGAGATCACGCCATTGTACTCCAGCCTGGGCGACACAGTGAGACTCTGTCTCAAAAAAAATAAAAATAAAAAATAAAAAAATAAAAATAAAAATACAAAAAAATTAGCCAGGCGTTGTGGTGCATGCCTGTAGTCCCAGCTATTCGGGAGGCTGAGGCACGAGAATCACTTGAGCCCGAGACGCAGAGGTTGCAGTGAGCCGAGATCACGCCAGTGAGACTCTGTCTCAAAAAACAAAAAAAAAAGAAAGAAAGGAAAAAGAAAAAAAAATTGCACGCGAAGAATGCGTTACATAATAGACTTT
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Task1_train_10311
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A variant found in Chromosome 6 affects PRPH2 (peripherin 2). Please analyze its biological impact: is it benign or pathogenic, and what condition might it cause?
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Pathogenic; PRPH2-related disorder
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GGCTAATTTTGTATTTTTAGTAGAGACGGGGTTTCTCCGTGTTGGTCAGGCTGGTCTCGAACTCCTGAACTCAGGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCTACCGCACCCGGCCCTAAATTGTCTTTATACTATCATTACACTGTATGATTATGTAAATGTTAACAAGACTAGACTGAAACTGAAATGTAGAAAAACTAAAGGCATTAATCAAGTTATGGGTGAGAAGCTAGCTTGAATTTGTTTTCCTATTTTGGCTTCTTTTAATATTACTGCTGTATTTTTTGTGCGTGTAATAGAAGAATTTTTCCAAGTCAGTGGAGTTAGGAAAATTTCCCACCAACAAGTTGGTATGGGACATTGAAGGAGTTTTGATTCAGCTAAATATTTGCCTGAAATTTTGGATCCATTGACCATTGAGAGTGGAGTGACCTAGATAATTCCTTCACTCTGATACAAAAGGGGATTTGGAGTTACCGAGAGATTTGAATACATCTGTCCAAGAACTGACTCTATGCAGGAGACAATCAAGGGAAATGATAGAGGAAAAGATGAAAAGCCCCTTCTCTGTGAGCCTCTGCTCACAGAGGCTGGTTCTACCATCGGCCTCTCCCACTCCCCAGAATTCTGCTTGTCCCCCTGGCTTCATGCCCTCCTCGGGAGATTTATGTAAATCGTGGCATCTTGTGCTGCCCCTGCAGACCTGTCACCTGGGAAGGGCACAGCCCTTTACAATCCTCTCCTGACTGGGGATTTGCAGCAGTAATCTCCATCCACAAGAAAATAAAATCCCAAGAAGTGACCTTCACTTGGACGTCCCTTCCATCTGCAGGGCAGATATAAGCTAGCTATTTGGGCGTCATTAATGTTGTTTTGGGCTTCAAACATGTCCTGCTGCTGGTGCCAATGCCCTGAGTTCAAGTTCCCTTTGGACTTGCCAGCCTCACTGGGAAGAAAAAAAAACCACCCTTAGGAATAACTGAACCCCTAACCTCAGCCAGGTAGGGTCGAGTCAGACAGAAAGAAGAGGTGAGGGAAAGCGGCTGCCTCAAGGCAGGCTGCCCTTTCCCTGAAAAGTCACTCGAGCCCCAGGTTGGTGGGTGTGTTGGGAAGAGCAGCCCGCTGGAGCCAGTGCACAGGCTGTTCCCTCCGACACAGTGGTCGAGAGTCTCTCTCTCACCAGCACCTCCCACAGCCCATCGCAGCATTTTACTTTTACATATGCCAAGAATACTTTAGAAATGCTTTATCACATTGCACTATCATGACTCGCTAAGTAAACACCAGCAAGCATTTAATGAGTACCTGCTGCATGCCAGCTACCAGGCAGGGCTAGGAGGTGACTTCCAAAATTACCTATTCTATTCCAGTGCTCATTTAAAAGATGGGCAAGCCAAAGCGCAGAGTGACTAGTGACCTGCCCAAGGTCACAAGACCTTGAACAACAGAACCAAAACTTCACCCTAGATCTCATGACTTCCCCTTCCTATGCTCTTTCCAACATATCCAGACAAACATCTTGGGAATGGATGCTCAGGGTTGAAAGGTTGGAAAACAAGGGAACTAACTAGGAAATTTAAACTTCTGGGACTGAATCCATCTACTTTGAATGAATGGGACAAATAGCCAAATAGTACCTCAGTGTTTGTGATCTATGAATGACTTCCATCCCTCTGTATAAAGTGGACACACATTGCTGCCTGGCTCTTCATCCCAAGGGGCTCCTATCCAAACAGCTTATATAAATTGATACCTTCCTACCACCTTAGCCAATGTTAGGTTGAACCCTATGAAGTTGTCATTTTTTATGGGTCAAAGAGGTAGAATATTAGCAATTTCATATGGTTCCACCTGATACACCCTCACATACGCAGCAATAAGTTGTGCACCCGATGGAGAGGAAAAGGCACTGGGTGCGGGGAGAGGGGCTGGTCAGAGGCCTGAGCCTCAGTGTCCCCAATATATTCATAGCTCTGACCCCAGGACTGGAAGCCACTCACTCTTTGACTTCTTTGGAGGAAAAGTCCAGGTAGCGATTGCTGATCCACTGAATCTCAAACCAGTCCCGAAAACCGTTGTTGCCGCAGCATTTGAACTCGATCTGCAGCATGTCGATGGTCTTCTTCATGAAACACCTGCCAGGGGTGTCTGTGTCCCGGTAGTACTTCATGCCGTTCTTGAGCCCTTGGCCCAGGGTGTTCTCCAGCGAGCCCCGAAGCAGAAAGCAGCAGAGAGCCACAAGGAAGAGGATGATGTTGAAGAGAACACAGATAGCCAGGTACGGCTTCAGCCAGGGCTTCCATCTGGCATACTTGGCTGGGTCCAGGGCGTCGTAGCAGATCTTCCCAGCCAGCGAGTTGAAGACACAGGATAGCACCCCCATCCCTATCAATGAGTTGGGCACAAAATGGCTCTCAGAATTATTCATCACATCGCTCCTCTTTCGGAGTTCAATCTTCAGGAACAGTCCTAGGCTGAAGATGATGATGCCAGCCAACACGGAGAACCAGTTCATGAGCCAGAGCCCTTGGGCCAACTTGACCCGCTTCTTCTGGTCAAACTTGACTTTCAGTAGCGCCATGCTTGCCAAGTGTAGTCCGGGTTGCTTCCCACAGCACAGCTCCCACCCCAAACCTTAACGAGCCCAGAGGCGGAGACTTAGGGCCTTGGGAAAAGTGCAGATGGCCCAAGCTGTAGGGAGCTGCCCTGGGGGCTACCCATGTCGAGTCCCACTAGCCTGGGATCCCCGTGAATGCAGTAGTGGTGGCAGGGGTCTCGGAATCACAGCTTGAGCAGGGGATAGTCCTGGTCCTGGGCGTTGTTTCTTCAGCGCCCTTCCCAGCCAAGAAGGGGCAGCCTGAACGCTGCAGATTAAAAGTGGGATCCACAAGACATTTTGCTAATCTCTTTAGCCAGGTTCATCCCATTAGATAAAGCCATGCCACTCTCAAAACATGGTCAAAAGCAGCCTCCAGGTACATGCTGAACCAGAAAGCTCTGGGTACAGCTTGGAGAATCAGGAGCAAAGGGCAAGACTGGCCAGAAGAATGGGCTGTATCTGGATGTCTGGCTCAGACCGTGTTGCTCCCCAAAAGCATATTTCCAGGCCAATCTCCTTCAACATTTAAAACTTTCTGTAGGACAAATAAATTGTTATCCTCTCTGAGAAAAGAAATGACAGGGCCAGGCACAGTGGATCACGCCTATAATCCCAGCACTTTGGGAGACCAAGTTGGGTGGATCACTTGAGCCCAGGAGTTCAAGACCAGCCTGGGCTACATAGGAAGACCCCATCTCCACACACACACACACACACACAAAAAAAAAAAAAAAAAAATTAGCTGGGTATGGTGGCATGCACCTGTAGTTCTCCCAGCTACTCTGGAGGCTGAGGTGGCAAGATCACCTGAGCCTGGGGAGTTCAAGGCTGCACTGAGCCATGATCGTGCCACTGCACTCCAGCCTGGGTGACAGAGTGAGGCCCTGTCTCAAATTTTAAAAAGACAAAGAAAAGAAGAGAAGAAGGAAGGAAAGAAAGAAAGTGACAGATCGTGAGAAAACATTTGCAACTTGTAAAATTAAAAAGTAATATACAGTGGCCAGGCATGGTGGCTTATGCCTGTAATCCCAGTACTTTGGGAGGCCAAGGCAGGTGGATCGCTTGAGCCCAGGAGGTGGAGGTTGCACTGAACTGAGATCCCCACATTGCACTCCAGCCTGGGTGACAGTGAGACTCTGTCTGGAAAAAAAAAAAAAAGAATTAATATGCAAAAATGTTTTAAGTCTCACAAATTCACAATAAACAAAAATTCACAATCAAAAGACCAATAATCAACTGGAAAAATAGGCAAAAACCAGGAACAGACAATTCATAATTAGGAAACTTGAAAAGTCCAATAATCTGGAAAAGATCTCAACTTGGGTAATAAGCAGGAAAATGCAAATCCAAACAACAATAAAATACCAAACTTGGCCGGGCACAGTGGTTCACACCTGTAATCCCAGCAGTTTGGAAGGCCAAGGTGGGTGGATCACTTGAGGTCAGGCATTCAAGACCAGCCTGGCCAACATGG
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GGCTAATTTTGTATTTTTAGTAGAGACGGGGTTTCTCCGTGTTGGTCAGGCTGGTCTCGAACTCCTGAACTCAGGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCTACCGCACCCGGCCCTAAATTGTCTTTATACTATCATTACACTGTATGATTATGTAAATGTTAACAAGACTAGACTGAAACTGAAATGTAGAAAAACTAAAGGCATTAATCAAGTTATGGGTGAGAAGCTAGCTTGAATTTGTTTTCCTATTTTGGCTTCTTTTAATATTACTGCTGTATTTTTTGTGCGTGTAATAGAAGAATTTTTCCAAGTCAGTGGAGTTAGGAAAATTTCCCACCAACAAGTTGGTATGGGACATTGAAGGAGTTTTGATTCAGCTAAATATTTGCCTGAAATTTTGGATCCATTGACCATTGAGAGTGGAGTGACCTAGATAATTCCTTCACTCTGATACAAAAGGGGATTTGGAGTTACCGAGAGATTTGAATACATCTGTCCAAGAACTGACTCTATGCAGGAGACAATCAAGGGAAATGATAGAGGAAAAGATGAAAAGCCCCTTCTCTGTGAGCCTCTGCTCACAGAGGCTGGTTCTACCATCGGCCTCTCCCACTCCCCAGAATTCTGCTTGTCCCCCTGGCTTCATGCCCTCCTCGGGAGATTTATGTAAATCGTGGCATCTTGTGCTGCCCCTGCAGACCTGTCACCTGGGAAGGGCACAGCCCTTTACAATCCTCTCCTGACTGGGGATTTGCAGCAGTAATCTCCATCCACAAGAAAATAAAATCCCAAGAAGTGACCTTCACTTGGACGTCCCTTCCATCTGCAGGGCAGATATAAGCTAGCTATTTGGGCGTCATTAATGTTGTTTTGGGCTTCAAACATGTCCTGCTGCTGGTGCCAATGCCCTGAGTTCAAGTTCCCTTTGGACTTGCCAGCCTCACTGGGAAGAAAAAAAAACCACCCTTAGGAATAACTGAACCCCTAACCTCAGCCAGGTAGGGTCGAGTCAGACAGAAAGAAGAGGTGAGGGAAAGCGGCTGCCTCAAGGCAGGCTGCCCTTTCCCTGAAAAGTCACTCGAGCCCCAGGTTGGTGGGTGTGTTGGGAAGAGCAGCCCGCTGGAGCCAGTGCACAGGCTGTTCCCTCCGACACAGTGGTCGAGAGTCTCTCTCTCACCAGCACCTCCCACAGCCCATCGCAGCATTTTACTTTTACATATGCCAAGAATACTTTAGAAATGCTTTATCACATTGCACTATCATGACTCGCTAAGTAAACACCAGCAAGCATTTAATGAGTACCTGCTGCATGCCAGCTACCAGGCAGGGCTAGGAGGTGACTTCCAAAATTACCTATTCTATTCCAGTGCTCATTTAAAAGATGGGCAAGCCAAAGCGCAGAGTGACTAGTGACCTGCCCAAGGTCACAAGACCTTGAACAACAGAACCAAAACTTCACCCTAGATCTCATGACTTCCCCTTCCTATGCTCTTTCCAACATATCCAGACAAACATCTTGGGAATGGATGCTCAGGGTTGAAAGGTTGGAAAACAAGGGAACTAACTAGGAAATTTAAACTTCTGGGACTGAATCCATCTACTTTGAATGAATGGGACAAATAGCCAAATAGTACCTCAGTGTTTGTGATCTATGAATGACTTCCATCCCTCTGTATAAAGTGGACACACATTGCTGCCTGGCTCTTCATCCCAAGGGGCTCCTATCCAAACAGCTTATATAAATTGATACCTTCCTACCACCTTAGCCAATGTTAGGTTGAACCCTATGAAGTTGTCATTTTTTATGGGTCAAAGAGGTAGAATATTAGCAATTTCATATGGTTCCACCTGATACACCCTCACATACGCAGCAATAAGTTGTGCACCCGATGGAGAGGAAAAGGCACTGGGTGCGGGGAGAGGGGCTGGTCAGAGGCCTGAGCCTCAGTGTCCCCAATATATTCATAGCTCTGACCCCAGGACTGGAAGCCACTCACTCTTTGACTTCTTTGGAGGAAAAGTTCAGGTAGCGATTGCTGATCCACTGAATCTCAAACCAGTCCCGAAAACCGTTGTTGCCGCAGCATTTGAACTCGATCTGCAGCATGTCGATGGTCTTCTTCATGAAACACCTGCCAGGGGTGTCTGTGTCCCGGTAGTACTTCATGCCGTTCTTGAGCCCTTGGCCCAGGGTGTTCTCCAGCGAGCCCCGAAGCAGAAAGCAGCAGAGAGCCACAAGGAAGAGGATGATGTTGAAGAGAACACAGATAGCCAGGTACGGCTTCAGCCAGGGCTTCCATCTGGCATACTTGGCTGGGTCCAGGGCGTCGTAGCAGATCTTCCCAGCCAGCGAGTTGAAGACACAGGATAGCACCCCCATCCCTATCAATGAGTTGGGCACAAAATGGCTCTCAGAATTATTCATCACATCGCTCCTCTTTCGGAGTTCAATCTTCAGGAACAGTCCTAGGCTGAAGATGATGATGCCAGCCAACACGGAGAACCAGTTCATGAGCCAGAGCCCTTGGGCCAACTTGACCCGCTTCTTCTGGTCAAACTTGACTTTCAGTAGCGCCATGCTTGCCAAGTGTAGTCCGGGTTGCTTCCCACAGCACAGCTCCCACCCCAAACCTTAACGAGCCCAGAGGCGGAGACTTAGGGCCTTGGGAAAAGTGCAGATGGCCCAAGCTGTAGGGAGCTGCCCTGGGGGCTACCCATGTCGAGTCCCACTAGCCTGGGATCCCCGTGAATGCAGTAGTGGTGGCAGGGGTCTCGGAATCACAGCTTGAGCAGGGGATAGTCCTGGTCCTGGGCGTTGTTTCTTCAGCGCCCTTCCCAGCCAAGAAGGGGCAGCCTGAACGCTGCAGATTAAAAGTGGGATCCACAAGACATTTTGCTAATCTCTTTAGCCAGGTTCATCCCATTAGATAAAGCCATGCCACTCTCAAAACATGGTCAAAAGCAGCCTCCAGGTACATGCTGAACCAGAAAGCTCTGGGTACAGCTTGGAGAATCAGGAGCAAAGGGCAAGACTGGCCAGAAGAATGGGCTGTATCTGGATGTCTGGCTCAGACCGTGTTGCTCCCCAAAAGCATATTTCCAGGCCAATCTCCTTCAACATTTAAAACTTTCTGTAGGACAAATAAATTGTTATCCTCTCTGAGAAAAGAAATGACAGGGCCAGGCACAGTGGATCACGCCTATAATCCCAGCACTTTGGGAGACCAAGTTGGGTGGATCACTTGAGCCCAGGAGTTCAAGACCAGCCTGGGCTACATAGGAAGACCCCATCTCCACACACACACACACACACACAAAAAAAAAAAAAAAAAAATTAGCTGGGTATGGTGGCATGCACCTGTAGTTCTCCCAGCTACTCTGGAGGCTGAGGTGGCAAGATCACCTGAGCCTGGGGAGTTCAAGGCTGCACTGAGCCATGATCGTGCCACTGCACTCCAGCCTGGGTGACAGAGTGAGGCCCTGTCTCAAATTTTAAAAAGACAAAGAAAAGAAGAGAAGAAGGAAGGAAAGAAAGAAAGTGACAGATCGTGAGAAAACATTTGCAACTTGTAAAATTAAAAAGTAATATACAGTGGCCAGGCATGGTGGCTTATGCCTGTAATCCCAGTACTTTGGGAGGCCAAGGCAGGTGGATCGCTTGAGCCCAGGAGGTGGAGGTTGCACTGAACTGAGATCCCCACATTGCACTCCAGCCTGGGTGACAGTGAGACTCTGTCTGGAAAAAAAAAAAAAAGAATTAATATGCAAAAATGTTTTAAGTCTCACAAATTCACAATAAACAAAAATTCACAATCAAAAGACCAATAATCAACTGGAAAAATAGGCAAAAACCAGGAACAGACAATTCATAATTAGGAAACTTGAAAAGTCCAATAATCTGGAAAAGATCTCAACTTGGGTAATAAGCAGGAAAATGCAAATCCAAACAACAATAAAATACCAAACTTGGCCGGGCACAGTGGTTCACACCTGTAATCCCAGCAGTTTGGAAGGCCAAGGTGGGTGGATCACTTGAGGTCAGGCATTCAAGACCAGCCTGGCCAACATGG
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Task1_train_10312
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A genetic alteration is present in PRPH2 (peripherin 2) on Chromosome 6. Is this variant benign or disease-causing, and if the latter, which condition is involved?
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Pathogenic; Vitelliform macular dystrophy 3
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TTGGTCAGGCTGGTCTCGAACTCCTGAACTCAGGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCTACCGCACCCGGCCCTAAATTGTCTTTATACTATCATTACACTGTATGATTATGTAAATGTTAACAAGACTAGACTGAAACTGAAATGTAGAAAAACTAAAGGCATTAATCAAGTTATGGGTGAGAAGCTAGCTTGAATTTGTTTTCCTATTTTGGCTTCTTTTAATATTACTGCTGTATTTTTTGTGCGTGTAATAGAAGAATTTTTCCAAGTCAGTGGAGTTAGGAAAATTTCCCACCAACAAGTTGGTATGGGACATTGAAGGAGTTTTGATTCAGCTAAATATTTGCCTGAAATTTTGGATCCATTGACCATTGAGAGTGGAGTGACCTAGATAATTCCTTCACTCTGATACAAAAGGGGATTTGGAGTTACCGAGAGATTTGAATACATCTGTCCAAGAACTGACTCTATGCAGGAGACAATCAAGGGAAATGATAGAGGAAAAGATGAAAAGCCCCTTCTCTGTGAGCCTCTGCTCACAGAGGCTGGTTCTACCATCGGCCTCTCCCACTCCCCAGAATTCTGCTTGTCCCCCTGGCTTCATGCCCTCCTCGGGAGATTTATGTAAATCGTGGCATCTTGTGCTGCCCCTGCAGACCTGTCACCTGGGAAGGGCACAGCCCTTTACAATCCTCTCCTGACTGGGGATTTGCAGCAGTAATCTCCATCCACAAGAAAATAAAATCCCAAGAAGTGACCTTCACTTGGACGTCCCTTCCATCTGCAGGGCAGATATAAGCTAGCTATTTGGGCGTCATTAATGTTGTTTTGGGCTTCAAACATGTCCTGCTGCTGGTGCCAATGCCCTGAGTTCAAGTTCCCTTTGGACTTGCCAGCCTCACTGGGAAGAAAAAAAAACCACCCTTAGGAATAACTGAACCCCTAACCTCAGCCAGGTAGGGTCGAGTCAGACAGAAAGAAGAGGTGAGGGAAAGCGGCTGCCTCAAGGCAGGCTGCCCTTTCCCTGAAAAGTCACTCGAGCCCCAGGTTGGTGGGTGTGTTGGGAAGAGCAGCCCGCTGGAGCCAGTGCACAGGCTGTTCCCTCCGACACAGTGGTCGAGAGTCTCTCTCTCACCAGCACCTCCCACAGCCCATCGCAGCATTTTACTTTTACATATGCCAAGAATACTTTAGAAATGCTTTATCACATTGCACTATCATGACTCGCTAAGTAAACACCAGCAAGCATTTAATGAGTACCTGCTGCATGCCAGCTACCAGGCAGGGCTAGGAGGTGACTTCCAAAATTACCTATTCTATTCCAGTGCTCATTTAAAAGATGGGCAAGCCAAAGCGCAGAGTGACTAGTGACCTGCCCAAGGTCACAAGACCTTGAACAACAGAACCAAAACTTCACCCTAGATCTCATGACTTCCCCTTCCTATGCTCTTTCCAACATATCCAGACAAACATCTTGGGAATGGATGCTCAGGGTTGAAAGGTTGGAAAACAAGGGAACTAACTAGGAAATTTAAACTTCTGGGACTGAATCCATCTACTTTGAATGAATGGGACAAATAGCCAAATAGTACCTCAGTGTTTGTGATCTATGAATGACTTCCATCCCTCTGTATAAAGTGGACACACATTGCTGCCTGGCTCTTCATCCCAAGGGGCTCCTATCCAAACAGCTTATATAAATTGATACCTTCCTACCACCTTAGCCAATGTTAGGTTGAACCCTATGAAGTTGTCATTTTTTATGGGTCAAAGAGGTAGAATATTAGCAATTTCATATGGTTCCACCTGATACACCCTCACATACGCAGCAATAAGTTGTGCACCCGATGGAGAGGAAAAGGCACTGGGTGCGGGGAGAGGGGCTGGTCAGAGGCCTGAGCCTCAGTGTCCCCAATATATTCATAGCTCTGACCCCAGGACTGGAAGCCACTCACTCTTTGACTTCTTTGGAGGAAAAGTCCAGGTAGCGATTGCTGATCCACTGAATCTCAAACCAGTCCCGAAAACCGTTGTTGCCGCAGCATTTGAACTCGATCTGCAGCATGTCGATGGTCTTCTTCATGAAACACCTGCCAGGGGTGTCTGTGTCCCGGTAGTACTTCATGCCGTTCTTGAGCCCTTGGCCCAGGGTGTTCTCCAGCGAGCCCCGAAGCAGAAAGCAGCAGAGAGCCACAAGGAAGAGGATGATGTTGAAGAGAACACAGATAGCCAGGTACGGCTTCAGCCAGGGCTTCCATCTGGCATACTTGGCTGGGTCCAGGGCGTCGTAGCAGATCTTCCCAGCCAGCGAGTTGAAGACACAGGATAGCACCCCCATCCCTATCAATGAGTTGGGCACAAAATGGCTCTCAGAATTATTCATCACATCGCTCCTCTTTCGGAGTTCAATCTTCAGGAACAGTCCTAGGCTGAAGATGATGATGCCAGCCAACACGGAGAACCAGTTCATGAGCCAGAGCCCTTGGGCCAACTTGACCCGCTTCTTCTGGTCAAACTTGACTTTCAGTAGCGCCATGCTTGCCAAGTGTAGTCCGGGTTGCTTCCCACAGCACAGCTCCCACCCCAAACCTTAACGAGCCCAGAGGCGGAGACTTAGGGCCTTGGGAAAAGTGCAGATGGCCCAAGCTGTAGGGAGCTGCCCTGGGGGCTACCCATGTCGAGTCCCACTAGCCTGGGATCCCCGTGAATGCAGTAGTGGTGGCAGGGGTCTCGGAATCACAGCTTGAGCAGGGGATAGTCCTGGTCCTGGGCGTTGTTTCTTCAGCGCCCTTCCCAGCCAAGAAGGGGCAGCCTGAACGCTGCAGATTAAAAGTGGGATCCACAAGACATTTTGCTAATCTCTTTAGCCAGGTTCATCCCATTAGATAAAGCCATGCCACTCTCAAAACATGGTCAAAAGCAGCCTCCAGGTACATGCTGAACCAGAAAGCTCTGGGTACAGCTTGGAGAATCAGGAGCAAAGGGCAAGACTGGCCAGAAGAATGGGCTGTATCTGGATGTCTGGCTCAGACCGTGTTGCTCCCCAAAAGCATATTTCCAGGCCAATCTCCTTCAACATTTAAAACTTTCTGTAGGACAAATAAATTGTTATCCTCTCTGAGAAAAGAAATGACAGGGCCAGGCACAGTGGATCACGCCTATAATCCCAGCACTTTGGGAGACCAAGTTGGGTGGATCACTTGAGCCCAGGAGTTCAAGACCAGCCTGGGCTACATAGGAAGACCCCATCTCCACACACACACACACACACACAAAAAAAAAAAAAAAAAAATTAGCTGGGTATGGTGGCATGCACCTGTAGTTCTCCCAGCTACTCTGGAGGCTGAGGTGGCAAGATCACCTGAGCCTGGGGAGTTCAAGGCTGCACTGAGCCATGATCGTGCCACTGCACTCCAGCCTGGGTGACAGAGTGAGGCCCTGTCTCAAATTTTAAAAAGACAAAGAAAAGAAGAGAAGAAGGAAGGAAAGAAAGAAAGTGACAGATCGTGAGAAAACATTTGCAACTTGTAAAATTAAAAAGTAATATACAGTGGCCAGGCATGGTGGCTTATGCCTGTAATCCCAGTACTTTGGGAGGCCAAGGCAGGTGGATCGCTTGAGCCCAGGAGGTGGAGGTTGCACTGAACTGAGATCCCCACATTGCACTCCAGCCTGGGTGACAGTGAGACTCTGTCTGGAAAAAAAAAAAAAAGAATTAATATGCAAAAATGTTTTAAGTCTCACAAATTCACAATAAACAAAAATTCACAATCAAAAGACCAATAATCAACTGGAAAAATAGGCAAAAACCAGGAACAGACAATTCATAATTAGGAAACTTGAAAAGTCCAATAATCTGGAAAAGATCTCAACTTGGGTAATAAGCAGGAAAATGCAAATCCAAACAACAATAAAATACCAAACTTGGCCGGGCACAGTGGTTCACACCTGTAATCCCAGCAGTTTGGAAGGCCAAGGTGGGTGGATCACTTGAGGTCAGGCATTCAAGACCAGCCTGGCCAACATGGTGAAACCCTGTCTCTACTAAAAATACAAAAATTGTCTGGGT
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TTGGTCAGGCTGGTCTCGAACTCCTGAACTCAGGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCTACCGCACCCGGCCCTAAATTGTCTTTATACTATCATTACACTGTATGATTATGTAAATGTTAACAAGACTAGACTGAAACTGAAATGTAGAAAAACTAAAGGCATTAATCAAGTTATGGGTGAGAAGCTAGCTTGAATTTGTTTTCCTATTTTGGCTTCTTTTAATATTACTGCTGTATTTTTTGTGCGTGTAATAGAAGAATTTTTCCAAGTCAGTGGAGTTAGGAAAATTTCCCACCAACAAGTTGGTATGGGACATTGAAGGAGTTTTGATTCAGCTAAATATTTGCCTGAAATTTTGGATCCATTGACCATTGAGAGTGGAGTGACCTAGATAATTCCTTCACTCTGATACAAAAGGGGATTTGGAGTTACCGAGAGATTTGAATACATCTGTCCAAGAACTGACTCTATGCAGGAGACAATCAAGGGAAATGATAGAGGAAAAGATGAAAAGCCCCTTCTCTGTGAGCCTCTGCTCACAGAGGCTGGTTCTACCATCGGCCTCTCCCACTCCCCAGAATTCTGCTTGTCCCCCTGGCTTCATGCCCTCCTCGGGAGATTTATGTAAATCGTGGCATCTTGTGCTGCCCCTGCAGACCTGTCACCTGGGAAGGGCACAGCCCTTTACAATCCTCTCCTGACTGGGGATTTGCAGCAGTAATCTCCATCCACAAGAAAATAAAATCCCAAGAAGTGACCTTCACTTGGACGTCCCTTCCATCTGCAGGGCAGATATAAGCTAGCTATTTGGGCGTCATTAATGTTGTTTTGGGCTTCAAACATGTCCTGCTGCTGGTGCCAATGCCCTGAGTTCAAGTTCCCTTTGGACTTGCCAGCCTCACTGGGAAGAAAAAAAAACCACCCTTAGGAATAACTGAACCCCTAACCTCAGCCAGGTAGGGTCGAGTCAGACAGAAAGAAGAGGTGAGGGAAAGCGGCTGCCTCAAGGCAGGCTGCCCTTTCCCTGAAAAGTCACTCGAGCCCCAGGTTGGTGGGTGTGTTGGGAAGAGCAGCCCGCTGGAGCCAGTGCACAGGCTGTTCCCTCCGACACAGTGGTCGAGAGTCTCTCTCTCACCAGCACCTCCCACAGCCCATCGCAGCATTTTACTTTTACATATGCCAAGAATACTTTAGAAATGCTTTATCACATTGCACTATCATGACTCGCTAAGTAAACACCAGCAAGCATTTAATGAGTACCTGCTGCATGCCAGCTACCAGGCAGGGCTAGGAGGTGACTTCCAAAATTACCTATTCTATTCCAGTGCTCATTTAAAAGATGGGCAAGCCAAAGCGCAGAGTGACTAGTGACCTGCCCAAGGTCACAAGACCTTGAACAACAGAACCAAAACTTCACCCTAGATCTCATGACTTCCCCTTCCTATGCTCTTTCCAACATATCCAGACAAACATCTTGGGAATGGATGCTCAGGGTTGAAAGGTTGGAAAACAAGGGAACTAACTAGGAAATTTAAACTTCTGGGACTGAATCCATCTACTTTGAATGAATGGGACAAATAGCCAAATAGTACCTCAGTGTTTGTGATCTATGAATGACTTCCATCCCTCTGTATAAAGTGGACACACATTGCTGCCTGGCTCTTCATCCCAAGGGGCTCCTATCCAAACAGCTTATATAAATTGATACCTTCCTACCACCTTAGCCAATGTTAGGTTGAACCCTATGAAGTTGTCATTTTTTATGGGTCAAAGAGGTAGAATATTAGCAATTTCATATGGTTCCACCTGATACACCCTCACATACGCAGCAATAAGTTGTGCACCCGATGGAGAGGAAAAGGCACTGGGTGCGGGGAGAGGGGCTGGTCAGAGGCCTGAGCCTCAGTGTCCCCAATATATTCATAGCTCTGACCCCAGGACTGGAAGCCACTCACTCTTTGACTTCTTTGGAGGAAAAGTCCAGGTAGCGATTGCTGATCCACTGAATCTCAAACCAGTCCTGAAAACCGTTGTTGCCGCAGCATTTGAACTCGATCTGCAGCATGTCGATGGTCTTCTTCATGAAACACCTGCCAGGGGTGTCTGTGTCCCGGTAGTACTTCATGCCGTTCTTGAGCCCTTGGCCCAGGGTGTTCTCCAGCGAGCCCCGAAGCAGAAAGCAGCAGAGAGCCACAAGGAAGAGGATGATGTTGAAGAGAACACAGATAGCCAGGTACGGCTTCAGCCAGGGCTTCCATCTGGCATACTTGGCTGGGTCCAGGGCGTCGTAGCAGATCTTCCCAGCCAGCGAGTTGAAGACACAGGATAGCACCCCCATCCCTATCAATGAGTTGGGCACAAAATGGCTCTCAGAATTATTCATCACATCGCTCCTCTTTCGGAGTTCAATCTTCAGGAACAGTCCTAGGCTGAAGATGATGATGCCAGCCAACACGGAGAACCAGTTCATGAGCCAGAGCCCTTGGGCCAACTTGACCCGCTTCTTCTGGTCAAACTTGACTTTCAGTAGCGCCATGCTTGCCAAGTGTAGTCCGGGTTGCTTCCCACAGCACAGCTCCCACCCCAAACCTTAACGAGCCCAGAGGCGGAGACTTAGGGCCTTGGGAAAAGTGCAGATGGCCCAAGCTGTAGGGAGCTGCCCTGGGGGCTACCCATGTCGAGTCCCACTAGCCTGGGATCCCCGTGAATGCAGTAGTGGTGGCAGGGGTCTCGGAATCACAGCTTGAGCAGGGGATAGTCCTGGTCCTGGGCGTTGTTTCTTCAGCGCCCTTCCCAGCCAAGAAGGGGCAGCCTGAACGCTGCAGATTAAAAGTGGGATCCACAAGACATTTTGCTAATCTCTTTAGCCAGGTTCATCCCATTAGATAAAGCCATGCCACTCTCAAAACATGGTCAAAAGCAGCCTCCAGGTACATGCTGAACCAGAAAGCTCTGGGTACAGCTTGGAGAATCAGGAGCAAAGGGCAAGACTGGCCAGAAGAATGGGCTGTATCTGGATGTCTGGCTCAGACCGTGTTGCTCCCCAAAAGCATATTTCCAGGCCAATCTCCTTCAACATTTAAAACTTTCTGTAGGACAAATAAATTGTTATCCTCTCTGAGAAAAGAAATGACAGGGCCAGGCACAGTGGATCACGCCTATAATCCCAGCACTTTGGGAGACCAAGTTGGGTGGATCACTTGAGCCCAGGAGTTCAAGACCAGCCTGGGCTACATAGGAAGACCCCATCTCCACACACACACACACACACACAAAAAAAAAAAAAAAAAAATTAGCTGGGTATGGTGGCATGCACCTGTAGTTCTCCCAGCTACTCTGGAGGCTGAGGTGGCAAGATCACCTGAGCCTGGGGAGTTCAAGGCTGCACTGAGCCATGATCGTGCCACTGCACTCCAGCCTGGGTGACAGAGTGAGGCCCTGTCTCAAATTTTAAAAAGACAAAGAAAAGAAGAGAAGAAGGAAGGAAAGAAAGAAAGTGACAGATCGTGAGAAAACATTTGCAACTTGTAAAATTAAAAAGTAATATACAGTGGCCAGGCATGGTGGCTTATGCCTGTAATCCCAGTACTTTGGGAGGCCAAGGCAGGTGGATCGCTTGAGCCCAGGAGGTGGAGGTTGCACTGAACTGAGATCCCCACATTGCACTCCAGCCTGGGTGACAGTGAGACTCTGTCTGGAAAAAAAAAAAAAAGAATTAATATGCAAAAATGTTTTAAGTCTCACAAATTCACAATAAACAAAAATTCACAATCAAAAGACCAATAATCAACTGGAAAAATAGGCAAAAACCAGGAACAGACAATTCATAATTAGGAAACTTGAAAAGTCCAATAATCTGGAAAAGATCTCAACTTGGGTAATAAGCAGGAAAATGCAAATCCAAACAACAATAAAATACCAAACTTGGCCGGGCACAGTGGTTCACACCTGTAATCCCAGCAGTTTGGAAGGCCAAGGTGGGTGGATCACTTGAGGTCAGGCATTCAAGACCAGCCTGGCCAACATGGTGAAACCCTGTCTCTACTAAAAATACAAAAATTGTCTGGGT
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Task1_train_10313
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This sequence change occurs on Chromosome 6, altering PRPH2 (peripherin 2). What is the medical significance of this variant — is it benign or linked to a disease?
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Pathogenic; PRPH2-related disorder
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TTGGTCAGGCTGGTCTCGAACTCCTGAACTCAGGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCTACCGCACCCGGCCCTAAATTGTCTTTATACTATCATTACACTGTATGATTATGTAAATGTTAACAAGACTAGACTGAAACTGAAATGTAGAAAAACTAAAGGCATTAATCAAGTTATGGGTGAGAAGCTAGCTTGAATTTGTTTTCCTATTTTGGCTTCTTTTAATATTACTGCTGTATTTTTTGTGCGTGTAATAGAAGAATTTTTCCAAGTCAGTGGAGTTAGGAAAATTTCCCACCAACAAGTTGGTATGGGACATTGAAGGAGTTTTGATTCAGCTAAATATTTGCCTGAAATTTTGGATCCATTGACCATTGAGAGTGGAGTGACCTAGATAATTCCTTCACTCTGATACAAAAGGGGATTTGGAGTTACCGAGAGATTTGAATACATCTGTCCAAGAACTGACTCTATGCAGGAGACAATCAAGGGAAATGATAGAGGAAAAGATGAAAAGCCCCTTCTCTGTGAGCCTCTGCTCACAGAGGCTGGTTCTACCATCGGCCTCTCCCACTCCCCAGAATTCTGCTTGTCCCCCTGGCTTCATGCCCTCCTCGGGAGATTTATGTAAATCGTGGCATCTTGTGCTGCCCCTGCAGACCTGTCACCTGGGAAGGGCACAGCCCTTTACAATCCTCTCCTGACTGGGGATTTGCAGCAGTAATCTCCATCCACAAGAAAATAAAATCCCAAGAAGTGACCTTCACTTGGACGTCCCTTCCATCTGCAGGGCAGATATAAGCTAGCTATTTGGGCGTCATTAATGTTGTTTTGGGCTTCAAACATGTCCTGCTGCTGGTGCCAATGCCCTGAGTTCAAGTTCCCTTTGGACTTGCCAGCCTCACTGGGAAGAAAAAAAAACCACCCTTAGGAATAACTGAACCCCTAACCTCAGCCAGGTAGGGTCGAGTCAGACAGAAAGAAGAGGTGAGGGAAAGCGGCTGCCTCAAGGCAGGCTGCCCTTTCCCTGAAAAGTCACTCGAGCCCCAGGTTGGTGGGTGTGTTGGGAAGAGCAGCCCGCTGGAGCCAGTGCACAGGCTGTTCCCTCCGACACAGTGGTCGAGAGTCTCTCTCTCACCAGCACCTCCCACAGCCCATCGCAGCATTTTACTTTTACATATGCCAAGAATACTTTAGAAATGCTTTATCACATTGCACTATCATGACTCGCTAAGTAAACACCAGCAAGCATTTAATGAGTACCTGCTGCATGCCAGCTACCAGGCAGGGCTAGGAGGTGACTTCCAAAATTACCTATTCTATTCCAGTGCTCATTTAAAAGATGGGCAAGCCAAAGCGCAGAGTGACTAGTGACCTGCCCAAGGTCACAAGACCTTGAACAACAGAACCAAAACTTCACCCTAGATCTCATGACTTCCCCTTCCTATGCTCTTTCCAACATATCCAGACAAACATCTTGGGAATGGATGCTCAGGGTTGAAAGGTTGGAAAACAAGGGAACTAACTAGGAAATTTAAACTTCTGGGACTGAATCCATCTACTTTGAATGAATGGGACAAATAGCCAAATAGTACCTCAGTGTTTGTGATCTATGAATGACTTCCATCCCTCTGTATAAAGTGGACACACATTGCTGCCTGGCTCTTCATCCCAAGGGGCTCCTATCCAAACAGCTTATATAAATTGATACCTTCCTACCACCTTAGCCAATGTTAGGTTGAACCCTATGAAGTTGTCATTTTTTATGGGTCAAAGAGGTAGAATATTAGCAATTTCATATGGTTCCACCTGATACACCCTCACATACGCAGCAATAAGTTGTGCACCCGATGGAGAGGAAAAGGCACTGGGTGCGGGGAGAGGGGCTGGTCAGAGGCCTGAGCCTCAGTGTCCCCAATATATTCATAGCTCTGACCCCAGGACTGGAAGCCACTCACTCTTTGACTTCTTTGGAGGAAAAGTCCAGGTAGCGATTGCTGATCCACTGAATCTCAAACCAGTCCCGAAAACCGTTGTTGCCGCAGCATTTGAACTCGATCTGCAGCATGTCGATGGTCTTCTTCATGAAACACCTGCCAGGGGTGTCTGTGTCCCGGTAGTACTTCATGCCGTTCTTGAGCCCTTGGCCCAGGGTGTTCTCCAGCGAGCCCCGAAGCAGAAAGCAGCAGAGAGCCACAAGGAAGAGGATGATGTTGAAGAGAACACAGATAGCCAGGTACGGCTTCAGCCAGGGCTTCCATCTGGCATACTTGGCTGGGTCCAGGGCGTCGTAGCAGATCTTCCCAGCCAGCGAGTTGAAGACACAGGATAGCACCCCCATCCCTATCAATGAGTTGGGCACAAAATGGCTCTCAGAATTATTCATCACATCGCTCCTCTTTCGGAGTTCAATCTTCAGGAACAGTCCTAGGCTGAAGATGATGATGCCAGCCAACACGGAGAACCAGTTCATGAGCCAGAGCCCTTGGGCCAACTTGACCCGCTTCTTCTGGTCAAACTTGACTTTCAGTAGCGCCATGCTTGCCAAGTGTAGTCCGGGTTGCTTCCCACAGCACAGCTCCCACCCCAAACCTTAACGAGCCCAGAGGCGGAGACTTAGGGCCTTGGGAAAAGTGCAGATGGCCCAAGCTGTAGGGAGCTGCCCTGGGGGCTACCCATGTCGAGTCCCACTAGCCTGGGATCCCCGTGAATGCAGTAGTGGTGGCAGGGGTCTCGGAATCACAGCTTGAGCAGGGGATAGTCCTGGTCCTGGGCGTTGTTTCTTCAGCGCCCTTCCCAGCCAAGAAGGGGCAGCCTGAACGCTGCAGATTAAAAGTGGGATCCACAAGACATTTTGCTAATCTCTTTAGCCAGGTTCATCCCATTAGATAAAGCCATGCCACTCTCAAAACATGGTCAAAAGCAGCCTCCAGGTACATGCTGAACCAGAAAGCTCTGGGTACAGCTTGGAGAATCAGGAGCAAAGGGCAAGACTGGCCAGAAGAATGGGCTGTATCTGGATGTCTGGCTCAGACCGTGTTGCTCCCCAAAAGCATATTTCCAGGCCAATCTCCTTCAACATTTAAAACTTTCTGTAGGACAAATAAATTGTTATCCTCTCTGAGAAAAGAAATGACAGGGCCAGGCACAGTGGATCACGCCTATAATCCCAGCACTTTGGGAGACCAAGTTGGGTGGATCACTTGAGCCCAGGAGTTCAAGACCAGCCTGGGCTACATAGGAAGACCCCATCTCCACACACACACACACACACACAAAAAAAAAAAAAAAAAAATTAGCTGGGTATGGTGGCATGCACCTGTAGTTCTCCCAGCTACTCTGGAGGCTGAGGTGGCAAGATCACCTGAGCCTGGGGAGTTCAAGGCTGCACTGAGCCATGATCGTGCCACTGCACTCCAGCCTGGGTGACAGAGTGAGGCCCTGTCTCAAATTTTAAAAAGACAAAGAAAAGAAGAGAAGAAGGAAGGAAAGAAAGAAAGTGACAGATCGTGAGAAAACATTTGCAACTTGTAAAATTAAAAAGTAATATACAGTGGCCAGGCATGGTGGCTTATGCCTGTAATCCCAGTACTTTGGGAGGCCAAGGCAGGTGGATCGCTTGAGCCCAGGAGGTGGAGGTTGCACTGAACTGAGATCCCCACATTGCACTCCAGCCTGGGTGACAGTGAGACTCTGTCTGGAAAAAAAAAAAAAAGAATTAATATGCAAAAATGTTTTAAGTCTCACAAATTCACAATAAACAAAAATTCACAATCAAAAGACCAATAATCAACTGGAAAAATAGGCAAAAACCAGGAACAGACAATTCATAATTAGGAAACTTGAAAAGTCCAATAATCTGGAAAAGATCTCAACTTGGGTAATAAGCAGGAAAATGCAAATCCAAACAACAATAAAATACCAAACTTGGCCGGGCACAGTGGTTCACACCTGTAATCCCAGCAGTTTGGAAGGCCAAGGTGGGTGGATCACTTGAGGTCAGGCATTCAAGACCAGCCTGGCCAACATGGTGAAACCCTGTCTCTACTAAAAATACAAAAATTGTCTGGGT
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TTGGTCAGGCTGGTCTCGAACTCCTGAACTCAGGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCTACCGCACCCGGCCCTAAATTGTCTTTATACTATCATTACACTGTATGATTATGTAAATGTTAACAAGACTAGACTGAAACTGAAATGTAGAAAAACTAAAGGCATTAATCAAGTTATGGGTGAGAAGCTAGCTTGAATTTGTTTTCCTATTTTGGCTTCTTTTAATATTACTGCTGTATTTTTTGTGCGTGTAATAGAAGAATTTTTCCAAGTCAGTGGAGTTAGGAAAATTTCCCACCAACAAGTTGGTATGGGACATTGAAGGAGTTTTGATTCAGCTAAATATTTGCCTGAAATTTTGGATCCATTGACCATTGAGAGTGGAGTGACCTAGATAATTCCTTCACTCTGATACAAAAGGGGATTTGGAGTTACCGAGAGATTTGAATACATCTGTCCAAGAACTGACTCTATGCAGGAGACAATCAAGGGAAATGATAGAGGAAAAGATGAAAAGCCCCTTCTCTGTGAGCCTCTGCTCACAGAGGCTGGTTCTACCATCGGCCTCTCCCACTCCCCAGAATTCTGCTTGTCCCCCTGGCTTCATGCCCTCCTCGGGAGATTTATGTAAATCGTGGCATCTTGTGCTGCCCCTGCAGACCTGTCACCTGGGAAGGGCACAGCCCTTTACAATCCTCTCCTGACTGGGGATTTGCAGCAGTAATCTCCATCCACAAGAAAATAAAATCCCAAGAAGTGACCTTCACTTGGACGTCCCTTCCATCTGCAGGGCAGATATAAGCTAGCTATTTGGGCGTCATTAATGTTGTTTTGGGCTTCAAACATGTCCTGCTGCTGGTGCCAATGCCCTGAGTTCAAGTTCCCTTTGGACTTGCCAGCCTCACTGGGAAGAAAAAAAAACCACCCTTAGGAATAACTGAACCCCTAACCTCAGCCAGGTAGGGTCGAGTCAGACAGAAAGAAGAGGTGAGGGAAAGCGGCTGCCTCAAGGCAGGCTGCCCTTTCCCTGAAAAGTCACTCGAGCCCCAGGTTGGTGGGTGTGTTGGGAAGAGCAGCCCGCTGGAGCCAGTGCACAGGCTGTTCCCTCCGACACAGTGGTCGAGAGTCTCTCTCTCACCAGCACCTCCCACAGCCCATCGCAGCATTTTACTTTTACATATGCCAAGAATACTTTAGAAATGCTTTATCACATTGCACTATCATGACTCGCTAAGTAAACACCAGCAAGCATTTAATGAGTACCTGCTGCATGCCAGCTACCAGGCAGGGCTAGGAGGTGACTTCCAAAATTACCTATTCTATTCCAGTGCTCATTTAAAAGATGGGCAAGCCAAAGCGCAGAGTGACTAGTGACCTGCCCAAGGTCACAAGACCTTGAACAACAGAACCAAAACTTCACCCTAGATCTCATGACTTCCCCTTCCTATGCTCTTTCCAACATATCCAGACAAACATCTTGGGAATGGATGCTCAGGGTTGAAAGGTTGGAAAACAAGGGAACTAACTAGGAAATTTAAACTTCTGGGACTGAATCCATCTACTTTGAATGAATGGGACAAATAGCCAAATAGTACCTCAGTGTTTGTGATCTATGAATGACTTCCATCCCTCTGTATAAAGTGGACACACATTGCTGCCTGGCTCTTCATCCCAAGGGGCTCCTATCCAAACAGCTTATATAAATTGATACCTTCCTACCACCTTAGCCAATGTTAGGTTGAACCCTATGAAGTTGTCATTTTTTATGGGTCAAAGAGGTAGAATATTAGCAATTTCATATGGTTCCACCTGATACACCCTCACATACGCAGCAATAAGTTGTGCACCCGATGGAGAGGAAAAGGCACTGGGTGCGGGGAGAGGGGCTGGTCAGAGGCCTGAGCCTCAGTGTCCCCAATATATTCATAGCTCTGACCCCAGGACTGGAAGCCACTCACTCTTTGACTTCTTTGGAGGAAAAGTCCAGGTAGCGATTGCTGATCCACTGAATCTCAAACCAGTCCTGAAAACCGTTGTTGCCGCAGCATTTGAACTCGATCTGCAGCATGTCGATGGTCTTCTTCATGAAACACCTGCCAGGGGTGTCTGTGTCCCGGTAGTACTTCATGCCGTTCTTGAGCCCTTGGCCCAGGGTGTTCTCCAGCGAGCCCCGAAGCAGAAAGCAGCAGAGAGCCACAAGGAAGAGGATGATGTTGAAGAGAACACAGATAGCCAGGTACGGCTTCAGCCAGGGCTTCCATCTGGCATACTTGGCTGGGTCCAGGGCGTCGTAGCAGATCTTCCCAGCCAGCGAGTTGAAGACACAGGATAGCACCCCCATCCCTATCAATGAGTTGGGCACAAAATGGCTCTCAGAATTATTCATCACATCGCTCCTCTTTCGGAGTTCAATCTTCAGGAACAGTCCTAGGCTGAAGATGATGATGCCAGCCAACACGGAGAACCAGTTCATGAGCCAGAGCCCTTGGGCCAACTTGACCCGCTTCTTCTGGTCAAACTTGACTTTCAGTAGCGCCATGCTTGCCAAGTGTAGTCCGGGTTGCTTCCCACAGCACAGCTCCCACCCCAAACCTTAACGAGCCCAGAGGCGGAGACTTAGGGCCTTGGGAAAAGTGCAGATGGCCCAAGCTGTAGGGAGCTGCCCTGGGGGCTACCCATGTCGAGTCCCACTAGCCTGGGATCCCCGTGAATGCAGTAGTGGTGGCAGGGGTCTCGGAATCACAGCTTGAGCAGGGGATAGTCCTGGTCCTGGGCGTTGTTTCTTCAGCGCCCTTCCCAGCCAAGAAGGGGCAGCCTGAACGCTGCAGATTAAAAGTGGGATCCACAAGACATTTTGCTAATCTCTTTAGCCAGGTTCATCCCATTAGATAAAGCCATGCCACTCTCAAAACATGGTCAAAAGCAGCCTCCAGGTACATGCTGAACCAGAAAGCTCTGGGTACAGCTTGGAGAATCAGGAGCAAAGGGCAAGACTGGCCAGAAGAATGGGCTGTATCTGGATGTCTGGCTCAGACCGTGTTGCTCCCCAAAAGCATATTTCCAGGCCAATCTCCTTCAACATTTAAAACTTTCTGTAGGACAAATAAATTGTTATCCTCTCTGAGAAAAGAAATGACAGGGCCAGGCACAGTGGATCACGCCTATAATCCCAGCACTTTGGGAGACCAAGTTGGGTGGATCACTTGAGCCCAGGAGTTCAAGACCAGCCTGGGCTACATAGGAAGACCCCATCTCCACACACACACACACACACACAAAAAAAAAAAAAAAAAAATTAGCTGGGTATGGTGGCATGCACCTGTAGTTCTCCCAGCTACTCTGGAGGCTGAGGTGGCAAGATCACCTGAGCCTGGGGAGTTCAAGGCTGCACTGAGCCATGATCGTGCCACTGCACTCCAGCCTGGGTGACAGAGTGAGGCCCTGTCTCAAATTTTAAAAAGACAAAGAAAAGAAGAGAAGAAGGAAGGAAAGAAAGAAAGTGACAGATCGTGAGAAAACATTTGCAACTTGTAAAATTAAAAAGTAATATACAGTGGCCAGGCATGGTGGCTTATGCCTGTAATCCCAGTACTTTGGGAGGCCAAGGCAGGTGGATCGCTTGAGCCCAGGAGGTGGAGGTTGCACTGAACTGAGATCCCCACATTGCACTCCAGCCTGGGTGACAGTGAGACTCTGTCTGGAAAAAAAAAAAAAAGAATTAATATGCAAAAATGTTTTAAGTCTCACAAATTCACAATAAACAAAAATTCACAATCAAAAGACCAATAATCAACTGGAAAAATAGGCAAAAACCAGGAACAGACAATTCATAATTAGGAAACTTGAAAAGTCCAATAATCTGGAAAAGATCTCAACTTGGGTAATAAGCAGGAAAATGCAAATCCAAACAACAATAAAATACCAAACTTGGCCGGGCACAGTGGTTCACACCTGTAATCCCAGCAGTTTGGAAGGCCAAGGTGGGTGGATCACTTGAGGTCAGGCATTCAAGACCAGCCTGGCCAACATGGTGAAACCCTGTCTCTACTAAAAATACAAAAATTGTCTGGGT
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Task1_train_10314
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Mutation context: Chromosome 6, Gene PRPH2 (peripherin 2). Determine if this variant is likely to be benign or pathogenic. Mention the disease if applicable.
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Pathogenic; Patterned dystrophy of the retinal pigment epithelium
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TTGGTCAGGCTGGTCTCGAACTCCTGAACTCAGGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCTACCGCACCCGGCCCTAAATTGTCTTTATACTATCATTACACTGTATGATTATGTAAATGTTAACAAGACTAGACTGAAACTGAAATGTAGAAAAACTAAAGGCATTAATCAAGTTATGGGTGAGAAGCTAGCTTGAATTTGTTTTCCTATTTTGGCTTCTTTTAATATTACTGCTGTATTTTTTGTGCGTGTAATAGAAGAATTTTTCCAAGTCAGTGGAGTTAGGAAAATTTCCCACCAACAAGTTGGTATGGGACATTGAAGGAGTTTTGATTCAGCTAAATATTTGCCTGAAATTTTGGATCCATTGACCATTGAGAGTGGAGTGACCTAGATAATTCCTTCACTCTGATACAAAAGGGGATTTGGAGTTACCGAGAGATTTGAATACATCTGTCCAAGAACTGACTCTATGCAGGAGACAATCAAGGGAAATGATAGAGGAAAAGATGAAAAGCCCCTTCTCTGTGAGCCTCTGCTCACAGAGGCTGGTTCTACCATCGGCCTCTCCCACTCCCCAGAATTCTGCTTGTCCCCCTGGCTTCATGCCCTCCTCGGGAGATTTATGTAAATCGTGGCATCTTGTGCTGCCCCTGCAGACCTGTCACCTGGGAAGGGCACAGCCCTTTACAATCCTCTCCTGACTGGGGATTTGCAGCAGTAATCTCCATCCACAAGAAAATAAAATCCCAAGAAGTGACCTTCACTTGGACGTCCCTTCCATCTGCAGGGCAGATATAAGCTAGCTATTTGGGCGTCATTAATGTTGTTTTGGGCTTCAAACATGTCCTGCTGCTGGTGCCAATGCCCTGAGTTCAAGTTCCCTTTGGACTTGCCAGCCTCACTGGGAAGAAAAAAAAACCACCCTTAGGAATAACTGAACCCCTAACCTCAGCCAGGTAGGGTCGAGTCAGACAGAAAGAAGAGGTGAGGGAAAGCGGCTGCCTCAAGGCAGGCTGCCCTTTCCCTGAAAAGTCACTCGAGCCCCAGGTTGGTGGGTGTGTTGGGAAGAGCAGCCCGCTGGAGCCAGTGCACAGGCTGTTCCCTCCGACACAGTGGTCGAGAGTCTCTCTCTCACCAGCACCTCCCACAGCCCATCGCAGCATTTTACTTTTACATATGCCAAGAATACTTTAGAAATGCTTTATCACATTGCACTATCATGACTCGCTAAGTAAACACCAGCAAGCATTTAATGAGTACCTGCTGCATGCCAGCTACCAGGCAGGGCTAGGAGGTGACTTCCAAAATTACCTATTCTATTCCAGTGCTCATTTAAAAGATGGGCAAGCCAAAGCGCAGAGTGACTAGTGACCTGCCCAAGGTCACAAGACCTTGAACAACAGAACCAAAACTTCACCCTAGATCTCATGACTTCCCCTTCCTATGCTCTTTCCAACATATCCAGACAAACATCTTGGGAATGGATGCTCAGGGTTGAAAGGTTGGAAAACAAGGGAACTAACTAGGAAATTTAAACTTCTGGGACTGAATCCATCTACTTTGAATGAATGGGACAAATAGCCAAATAGTACCTCAGTGTTTGTGATCTATGAATGACTTCCATCCCTCTGTATAAAGTGGACACACATTGCTGCCTGGCTCTTCATCCCAAGGGGCTCCTATCCAAACAGCTTATATAAATTGATACCTTCCTACCACCTTAGCCAATGTTAGGTTGAACCCTATGAAGTTGTCATTTTTTATGGGTCAAAGAGGTAGAATATTAGCAATTTCATATGGTTCCACCTGATACACCCTCACATACGCAGCAATAAGTTGTGCACCCGATGGAGAGGAAAAGGCACTGGGTGCGGGGAGAGGGGCTGGTCAGAGGCCTGAGCCTCAGTGTCCCCAATATATTCATAGCTCTGACCCCAGGACTGGAAGCCACTCACTCTTTGACTTCTTTGGAGGAAAAGTCCAGGTAGCGATTGCTGATCCACTGAATCTCAAACCAGTCCCGAAAACCGTTGTTGCCGCAGCATTTGAACTCGATCTGCAGCATGTCGATGGTCTTCTTCATGAAACACCTGCCAGGGGTGTCTGTGTCCCGGTAGTACTTCATGCCGTTCTTGAGCCCTTGGCCCAGGGTGTTCTCCAGCGAGCCCCGAAGCAGAAAGCAGCAGAGAGCCACAAGGAAGAGGATGATGTTGAAGAGAACACAGATAGCCAGGTACGGCTTCAGCCAGGGCTTCCATCTGGCATACTTGGCTGGGTCCAGGGCGTCGTAGCAGATCTTCCCAGCCAGCGAGTTGAAGACACAGGATAGCACCCCCATCCCTATCAATGAGTTGGGCACAAAATGGCTCTCAGAATTATTCATCACATCGCTCCTCTTTCGGAGTTCAATCTTCAGGAACAGTCCTAGGCTGAAGATGATGATGCCAGCCAACACGGAGAACCAGTTCATGAGCCAGAGCCCTTGGGCCAACTTGACCCGCTTCTTCTGGTCAAACTTGACTTTCAGTAGCGCCATGCTTGCCAAGTGTAGTCCGGGTTGCTTCCCACAGCACAGCTCCCACCCCAAACCTTAACGAGCCCAGAGGCGGAGACTTAGGGCCTTGGGAAAAGTGCAGATGGCCCAAGCTGTAGGGAGCTGCCCTGGGGGCTACCCATGTCGAGTCCCACTAGCCTGGGATCCCCGTGAATGCAGTAGTGGTGGCAGGGGTCTCGGAATCACAGCTTGAGCAGGGGATAGTCCTGGTCCTGGGCGTTGTTTCTTCAGCGCCCTTCCCAGCCAAGAAGGGGCAGCCTGAACGCTGCAGATTAAAAGTGGGATCCACAAGACATTTTGCTAATCTCTTTAGCCAGGTTCATCCCATTAGATAAAGCCATGCCACTCTCAAAACATGGTCAAAAGCAGCCTCCAGGTACATGCTGAACCAGAAAGCTCTGGGTACAGCTTGGAGAATCAGGAGCAAAGGGCAAGACTGGCCAGAAGAATGGGCTGTATCTGGATGTCTGGCTCAGACCGTGTTGCTCCCCAAAAGCATATTTCCAGGCCAATCTCCTTCAACATTTAAAACTTTCTGTAGGACAAATAAATTGTTATCCTCTCTGAGAAAAGAAATGACAGGGCCAGGCACAGTGGATCACGCCTATAATCCCAGCACTTTGGGAGACCAAGTTGGGTGGATCACTTGAGCCCAGGAGTTCAAGACCAGCCTGGGCTACATAGGAAGACCCCATCTCCACACACACACACACACACACAAAAAAAAAAAAAAAAAAATTAGCTGGGTATGGTGGCATGCACCTGTAGTTCTCCCAGCTACTCTGGAGGCTGAGGTGGCAAGATCACCTGAGCCTGGGGAGTTCAAGGCTGCACTGAGCCATGATCGTGCCACTGCACTCCAGCCTGGGTGACAGAGTGAGGCCCTGTCTCAAATTTTAAAAAGACAAAGAAAAGAAGAGAAGAAGGAAGGAAAGAAAGAAAGTGACAGATCGTGAGAAAACATTTGCAACTTGTAAAATTAAAAAGTAATATACAGTGGCCAGGCATGGTGGCTTATGCCTGTAATCCCAGTACTTTGGGAGGCCAAGGCAGGTGGATCGCTTGAGCCCAGGAGGTGGAGGTTGCACTGAACTGAGATCCCCACATTGCACTCCAGCCTGGGTGACAGTGAGACTCTGTCTGGAAAAAAAAAAAAAAGAATTAATATGCAAAAATGTTTTAAGTCTCACAAATTCACAATAAACAAAAATTCACAATCAAAAGACCAATAATCAACTGGAAAAATAGGCAAAAACCAGGAACAGACAATTCATAATTAGGAAACTTGAAAAGTCCAATAATCTGGAAAAGATCTCAACTTGGGTAATAAGCAGGAAAATGCAAATCCAAACAACAATAAAATACCAAACTTGGCCGGGCACAGTGGTTCACACCTGTAATCCCAGCAGTTTGGAAGGCCAAGGTGGGTGGATCACTTGAGGTCAGGCATTCAAGACCAGCCTGGCCAACATGGTGAAACCCTGTCTCTACTAAAAATACAAAAATTGTCTGGGT
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TTGGTCAGGCTGGTCTCGAACTCCTGAACTCAGGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCTACCGCACCCGGCCCTAAATTGTCTTTATACTATCATTACACTGTATGATTATGTAAATGTTAACAAGACTAGACTGAAACTGAAATGTAGAAAAACTAAAGGCATTAATCAAGTTATGGGTGAGAAGCTAGCTTGAATTTGTTTTCCTATTTTGGCTTCTTTTAATATTACTGCTGTATTTTTTGTGCGTGTAATAGAAGAATTTTTCCAAGTCAGTGGAGTTAGGAAAATTTCCCACCAACAAGTTGGTATGGGACATTGAAGGAGTTTTGATTCAGCTAAATATTTGCCTGAAATTTTGGATCCATTGACCATTGAGAGTGGAGTGACCTAGATAATTCCTTCACTCTGATACAAAAGGGGATTTGGAGTTACCGAGAGATTTGAATACATCTGTCCAAGAACTGACTCTATGCAGGAGACAATCAAGGGAAATGATAGAGGAAAAGATGAAAAGCCCCTTCTCTGTGAGCCTCTGCTCACAGAGGCTGGTTCTACCATCGGCCTCTCCCACTCCCCAGAATTCTGCTTGTCCCCCTGGCTTCATGCCCTCCTCGGGAGATTTATGTAAATCGTGGCATCTTGTGCTGCCCCTGCAGACCTGTCACCTGGGAAGGGCACAGCCCTTTACAATCCTCTCCTGACTGGGGATTTGCAGCAGTAATCTCCATCCACAAGAAAATAAAATCCCAAGAAGTGACCTTCACTTGGACGTCCCTTCCATCTGCAGGGCAGATATAAGCTAGCTATTTGGGCGTCATTAATGTTGTTTTGGGCTTCAAACATGTCCTGCTGCTGGTGCCAATGCCCTGAGTTCAAGTTCCCTTTGGACTTGCCAGCCTCACTGGGAAGAAAAAAAAACCACCCTTAGGAATAACTGAACCCCTAACCTCAGCCAGGTAGGGTCGAGTCAGACAGAAAGAAGAGGTGAGGGAAAGCGGCTGCCTCAAGGCAGGCTGCCCTTTCCCTGAAAAGTCACTCGAGCCCCAGGTTGGTGGGTGTGTTGGGAAGAGCAGCCCGCTGGAGCCAGTGCACAGGCTGTTCCCTCCGACACAGTGGTCGAGAGTCTCTCTCTCACCAGCACCTCCCACAGCCCATCGCAGCATTTTACTTTTACATATGCCAAGAATACTTTAGAAATGCTTTATCACATTGCACTATCATGACTCGCTAAGTAAACACCAGCAAGCATTTAATGAGTACCTGCTGCATGCCAGCTACCAGGCAGGGCTAGGAGGTGACTTCCAAAATTACCTATTCTATTCCAGTGCTCATTTAAAAGATGGGCAAGCCAAAGCGCAGAGTGACTAGTGACCTGCCCAAGGTCACAAGACCTTGAACAACAGAACCAAAACTTCACCCTAGATCTCATGACTTCCCCTTCCTATGCTCTTTCCAACATATCCAGACAAACATCTTGGGAATGGATGCTCAGGGTTGAAAGGTTGGAAAACAAGGGAACTAACTAGGAAATTTAAACTTCTGGGACTGAATCCATCTACTTTGAATGAATGGGACAAATAGCCAAATAGTACCTCAGTGTTTGTGATCTATGAATGACTTCCATCCCTCTGTATAAAGTGGACACACATTGCTGCCTGGCTCTTCATCCCAAGGGGCTCCTATCCAAACAGCTTATATAAATTGATACCTTCCTACCACCTTAGCCAATGTTAGGTTGAACCCTATGAAGTTGTCATTTTTTATGGGTCAAAGAGGTAGAATATTAGCAATTTCATATGGTTCCACCTGATACACCCTCACATACGCAGCAATAAGTTGTGCACCCGATGGAGAGGAAAAGGCACTGGGTGCGGGGAGAGGGGCTGGTCAGAGGCCTGAGCCTCAGTGTCCCCAATATATTCATAGCTCTGACCCCAGGACTGGAAGCCACTCACTCTTTGACTTCTTTGGAGGAAAAGTCCAGGTAGCGATTGCTGATCCACTGAATCTCAAACCAGTCCTGAAAACCGTTGTTGCCGCAGCATTTGAACTCGATCTGCAGCATGTCGATGGTCTTCTTCATGAAACACCTGCCAGGGGTGTCTGTGTCCCGGTAGTACTTCATGCCGTTCTTGAGCCCTTGGCCCAGGGTGTTCTCCAGCGAGCCCCGAAGCAGAAAGCAGCAGAGAGCCACAAGGAAGAGGATGATGTTGAAGAGAACACAGATAGCCAGGTACGGCTTCAGCCAGGGCTTCCATCTGGCATACTTGGCTGGGTCCAGGGCGTCGTAGCAGATCTTCCCAGCCAGCGAGTTGAAGACACAGGATAGCACCCCCATCCCTATCAATGAGTTGGGCACAAAATGGCTCTCAGAATTATTCATCACATCGCTCCTCTTTCGGAGTTCAATCTTCAGGAACAGTCCTAGGCTGAAGATGATGATGCCAGCCAACACGGAGAACCAGTTCATGAGCCAGAGCCCTTGGGCCAACTTGACCCGCTTCTTCTGGTCAAACTTGACTTTCAGTAGCGCCATGCTTGCCAAGTGTAGTCCGGGTTGCTTCCCACAGCACAGCTCCCACCCCAAACCTTAACGAGCCCAGAGGCGGAGACTTAGGGCCTTGGGAAAAGTGCAGATGGCCCAAGCTGTAGGGAGCTGCCCTGGGGGCTACCCATGTCGAGTCCCACTAGCCTGGGATCCCCGTGAATGCAGTAGTGGTGGCAGGGGTCTCGGAATCACAGCTTGAGCAGGGGATAGTCCTGGTCCTGGGCGTTGTTTCTTCAGCGCCCTTCCCAGCCAAGAAGGGGCAGCCTGAACGCTGCAGATTAAAAGTGGGATCCACAAGACATTTTGCTAATCTCTTTAGCCAGGTTCATCCCATTAGATAAAGCCATGCCACTCTCAAAACATGGTCAAAAGCAGCCTCCAGGTACATGCTGAACCAGAAAGCTCTGGGTACAGCTTGGAGAATCAGGAGCAAAGGGCAAGACTGGCCAGAAGAATGGGCTGTATCTGGATGTCTGGCTCAGACCGTGTTGCTCCCCAAAAGCATATTTCCAGGCCAATCTCCTTCAACATTTAAAACTTTCTGTAGGACAAATAAATTGTTATCCTCTCTGAGAAAAGAAATGACAGGGCCAGGCACAGTGGATCACGCCTATAATCCCAGCACTTTGGGAGACCAAGTTGGGTGGATCACTTGAGCCCAGGAGTTCAAGACCAGCCTGGGCTACATAGGAAGACCCCATCTCCACACACACACACACACACACAAAAAAAAAAAAAAAAAAATTAGCTGGGTATGGTGGCATGCACCTGTAGTTCTCCCAGCTACTCTGGAGGCTGAGGTGGCAAGATCACCTGAGCCTGGGGAGTTCAAGGCTGCACTGAGCCATGATCGTGCCACTGCACTCCAGCCTGGGTGACAGAGTGAGGCCCTGTCTCAAATTTTAAAAAGACAAAGAAAAGAAGAGAAGAAGGAAGGAAAGAAAGAAAGTGACAGATCGTGAGAAAACATTTGCAACTTGTAAAATTAAAAAGTAATATACAGTGGCCAGGCATGGTGGCTTATGCCTGTAATCCCAGTACTTTGGGAGGCCAAGGCAGGTGGATCGCTTGAGCCCAGGAGGTGGAGGTTGCACTGAACTGAGATCCCCACATTGCACTCCAGCCTGGGTGACAGTGAGACTCTGTCTGGAAAAAAAAAAAAAAGAATTAATATGCAAAAATGTTTTAAGTCTCACAAATTCACAATAAACAAAAATTCACAATCAAAAGACCAATAATCAACTGGAAAAATAGGCAAAAACCAGGAACAGACAATTCATAATTAGGAAACTTGAAAAGTCCAATAATCTGGAAAAGATCTCAACTTGGGTAATAAGCAGGAAAATGCAAATCCAAACAACAATAAAATACCAAACTTGGCCGGGCACAGTGGTTCACACCTGTAATCCCAGCAGTTTGGAAGGCCAAGGTGGGTGGATCACTTGAGGTCAGGCATTCAAGACCAGCCTGGCCAACATGGTGAAACCCTGTCTCTACTAAAAATACAAAAATTGTCTGGGT
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Task1_train_10315
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This variant affects gene PRPH2 (peripherin 2) located on Chromosome 6. Evaluate its biological effect and specify any disease association.
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Pathogenic; Retinal dystrophy
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TTGGTCAGGCTGGTCTCGAACTCCTGAACTCAGGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCTACCGCACCCGGCCCTAAATTGTCTTTATACTATCATTACACTGTATGATTATGTAAATGTTAACAAGACTAGACTGAAACTGAAATGTAGAAAAACTAAAGGCATTAATCAAGTTATGGGTGAGAAGCTAGCTTGAATTTGTTTTCCTATTTTGGCTTCTTTTAATATTACTGCTGTATTTTTTGTGCGTGTAATAGAAGAATTTTTCCAAGTCAGTGGAGTTAGGAAAATTTCCCACCAACAAGTTGGTATGGGACATTGAAGGAGTTTTGATTCAGCTAAATATTTGCCTGAAATTTTGGATCCATTGACCATTGAGAGTGGAGTGACCTAGATAATTCCTTCACTCTGATACAAAAGGGGATTTGGAGTTACCGAGAGATTTGAATACATCTGTCCAAGAACTGACTCTATGCAGGAGACAATCAAGGGAAATGATAGAGGAAAAGATGAAAAGCCCCTTCTCTGTGAGCCTCTGCTCACAGAGGCTGGTTCTACCATCGGCCTCTCCCACTCCCCAGAATTCTGCTTGTCCCCCTGGCTTCATGCCCTCCTCGGGAGATTTATGTAAATCGTGGCATCTTGTGCTGCCCCTGCAGACCTGTCACCTGGGAAGGGCACAGCCCTTTACAATCCTCTCCTGACTGGGGATTTGCAGCAGTAATCTCCATCCACAAGAAAATAAAATCCCAAGAAGTGACCTTCACTTGGACGTCCCTTCCATCTGCAGGGCAGATATAAGCTAGCTATTTGGGCGTCATTAATGTTGTTTTGGGCTTCAAACATGTCCTGCTGCTGGTGCCAATGCCCTGAGTTCAAGTTCCCTTTGGACTTGCCAGCCTCACTGGGAAGAAAAAAAAACCACCCTTAGGAATAACTGAACCCCTAACCTCAGCCAGGTAGGGTCGAGTCAGACAGAAAGAAGAGGTGAGGGAAAGCGGCTGCCTCAAGGCAGGCTGCCCTTTCCCTGAAAAGTCACTCGAGCCCCAGGTTGGTGGGTGTGTTGGGAAGAGCAGCCCGCTGGAGCCAGTGCACAGGCTGTTCCCTCCGACACAGTGGTCGAGAGTCTCTCTCTCACCAGCACCTCCCACAGCCCATCGCAGCATTTTACTTTTACATATGCCAAGAATACTTTAGAAATGCTTTATCACATTGCACTATCATGACTCGCTAAGTAAACACCAGCAAGCATTTAATGAGTACCTGCTGCATGCCAGCTACCAGGCAGGGCTAGGAGGTGACTTCCAAAATTACCTATTCTATTCCAGTGCTCATTTAAAAGATGGGCAAGCCAAAGCGCAGAGTGACTAGTGACCTGCCCAAGGTCACAAGACCTTGAACAACAGAACCAAAACTTCACCCTAGATCTCATGACTTCCCCTTCCTATGCTCTTTCCAACATATCCAGACAAACATCTTGGGAATGGATGCTCAGGGTTGAAAGGTTGGAAAACAAGGGAACTAACTAGGAAATTTAAACTTCTGGGACTGAATCCATCTACTTTGAATGAATGGGACAAATAGCCAAATAGTACCTCAGTGTTTGTGATCTATGAATGACTTCCATCCCTCTGTATAAAGTGGACACACATTGCTGCCTGGCTCTTCATCCCAAGGGGCTCCTATCCAAACAGCTTATATAAATTGATACCTTCCTACCACCTTAGCCAATGTTAGGTTGAACCCTATGAAGTTGTCATTTTTTATGGGTCAAAGAGGTAGAATATTAGCAATTTCATATGGTTCCACCTGATACACCCTCACATACGCAGCAATAAGTTGTGCACCCGATGGAGAGGAAAAGGCACTGGGTGCGGGGAGAGGGGCTGGTCAGAGGCCTGAGCCTCAGTGTCCCCAATATATTCATAGCTCTGACCCCAGGACTGGAAGCCACTCACTCTTTGACTTCTTTGGAGGAAAAGTCCAGGTAGCGATTGCTGATCCACTGAATCTCAAACCAGTCCCGAAAACCGTTGTTGCCGCAGCATTTGAACTCGATCTGCAGCATGTCGATGGTCTTCTTCATGAAACACCTGCCAGGGGTGTCTGTGTCCCGGTAGTACTTCATGCCGTTCTTGAGCCCTTGGCCCAGGGTGTTCTCCAGCGAGCCCCGAAGCAGAAAGCAGCAGAGAGCCACAAGGAAGAGGATGATGTTGAAGAGAACACAGATAGCCAGGTACGGCTTCAGCCAGGGCTTCCATCTGGCATACTTGGCTGGGTCCAGGGCGTCGTAGCAGATCTTCCCAGCCAGCGAGTTGAAGACACAGGATAGCACCCCCATCCCTATCAATGAGTTGGGCACAAAATGGCTCTCAGAATTATTCATCACATCGCTCCTCTTTCGGAGTTCAATCTTCAGGAACAGTCCTAGGCTGAAGATGATGATGCCAGCCAACACGGAGAACCAGTTCATGAGCCAGAGCCCTTGGGCCAACTTGACCCGCTTCTTCTGGTCAAACTTGACTTTCAGTAGCGCCATGCTTGCCAAGTGTAGTCCGGGTTGCTTCCCACAGCACAGCTCCCACCCCAAACCTTAACGAGCCCAGAGGCGGAGACTTAGGGCCTTGGGAAAAGTGCAGATGGCCCAAGCTGTAGGGAGCTGCCCTGGGGGCTACCCATGTCGAGTCCCACTAGCCTGGGATCCCCGTGAATGCAGTAGTGGTGGCAGGGGTCTCGGAATCACAGCTTGAGCAGGGGATAGTCCTGGTCCTGGGCGTTGTTTCTTCAGCGCCCTTCCCAGCCAAGAAGGGGCAGCCTGAACGCTGCAGATTAAAAGTGGGATCCACAAGACATTTTGCTAATCTCTTTAGCCAGGTTCATCCCATTAGATAAAGCCATGCCACTCTCAAAACATGGTCAAAAGCAGCCTCCAGGTACATGCTGAACCAGAAAGCTCTGGGTACAGCTTGGAGAATCAGGAGCAAAGGGCAAGACTGGCCAGAAGAATGGGCTGTATCTGGATGTCTGGCTCAGACCGTGTTGCTCCCCAAAAGCATATTTCCAGGCCAATCTCCTTCAACATTTAAAACTTTCTGTAGGACAAATAAATTGTTATCCTCTCTGAGAAAAGAAATGACAGGGCCAGGCACAGTGGATCACGCCTATAATCCCAGCACTTTGGGAGACCAAGTTGGGTGGATCACTTGAGCCCAGGAGTTCAAGACCAGCCTGGGCTACATAGGAAGACCCCATCTCCACACACACACACACACACACAAAAAAAAAAAAAAAAAAATTAGCTGGGTATGGTGGCATGCACCTGTAGTTCTCCCAGCTACTCTGGAGGCTGAGGTGGCAAGATCACCTGAGCCTGGGGAGTTCAAGGCTGCACTGAGCCATGATCGTGCCACTGCACTCCAGCCTGGGTGACAGAGTGAGGCCCTGTCTCAAATTTTAAAAAGACAAAGAAAAGAAGAGAAGAAGGAAGGAAAGAAAGAAAGTGACAGATCGTGAGAAAACATTTGCAACTTGTAAAATTAAAAAGTAATATACAGTGGCCAGGCATGGTGGCTTATGCCTGTAATCCCAGTACTTTGGGAGGCCAAGGCAGGTGGATCGCTTGAGCCCAGGAGGTGGAGGTTGCACTGAACTGAGATCCCCACATTGCACTCCAGCCTGGGTGACAGTGAGACTCTGTCTGGAAAAAAAAAAAAAAGAATTAATATGCAAAAATGTTTTAAGTCTCACAAATTCACAATAAACAAAAATTCACAATCAAAAGACCAATAATCAACTGGAAAAATAGGCAAAAACCAGGAACAGACAATTCATAATTAGGAAACTTGAAAAGTCCAATAATCTGGAAAAGATCTCAACTTGGGTAATAAGCAGGAAAATGCAAATCCAAACAACAATAAAATACCAAACTTGGCCGGGCACAGTGGTTCACACCTGTAATCCCAGCAGTTTGGAAGGCCAAGGTGGGTGGATCACTTGAGGTCAGGCATTCAAGACCAGCCTGGCCAACATGGTGAAACCCTGTCTCTACTAAAAATACAAAAATTGTCTGGGT
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TTGGTCAGGCTGGTCTCGAACTCCTGAACTCAGGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCTACCGCACCCGGCCCTAAATTGTCTTTATACTATCATTACACTGTATGATTATGTAAATGTTAACAAGACTAGACTGAAACTGAAATGTAGAAAAACTAAAGGCATTAATCAAGTTATGGGTGAGAAGCTAGCTTGAATTTGTTTTCCTATTTTGGCTTCTTTTAATATTACTGCTGTATTTTTTGTGCGTGTAATAGAAGAATTTTTCCAAGTCAGTGGAGTTAGGAAAATTTCCCACCAACAAGTTGGTATGGGACATTGAAGGAGTTTTGATTCAGCTAAATATTTGCCTGAAATTTTGGATCCATTGACCATTGAGAGTGGAGTGACCTAGATAATTCCTTCACTCTGATACAAAAGGGGATTTGGAGTTACCGAGAGATTTGAATACATCTGTCCAAGAACTGACTCTATGCAGGAGACAATCAAGGGAAATGATAGAGGAAAAGATGAAAAGCCCCTTCTCTGTGAGCCTCTGCTCACAGAGGCTGGTTCTACCATCGGCCTCTCCCACTCCCCAGAATTCTGCTTGTCCCCCTGGCTTCATGCCCTCCTCGGGAGATTTATGTAAATCGTGGCATCTTGTGCTGCCCCTGCAGACCTGTCACCTGGGAAGGGCACAGCCCTTTACAATCCTCTCCTGACTGGGGATTTGCAGCAGTAATCTCCATCCACAAGAAAATAAAATCCCAAGAAGTGACCTTCACTTGGACGTCCCTTCCATCTGCAGGGCAGATATAAGCTAGCTATTTGGGCGTCATTAATGTTGTTTTGGGCTTCAAACATGTCCTGCTGCTGGTGCCAATGCCCTGAGTTCAAGTTCCCTTTGGACTTGCCAGCCTCACTGGGAAGAAAAAAAAACCACCCTTAGGAATAACTGAACCCCTAACCTCAGCCAGGTAGGGTCGAGTCAGACAGAAAGAAGAGGTGAGGGAAAGCGGCTGCCTCAAGGCAGGCTGCCCTTTCCCTGAAAAGTCACTCGAGCCCCAGGTTGGTGGGTGTGTTGGGAAGAGCAGCCCGCTGGAGCCAGTGCACAGGCTGTTCCCTCCGACACAGTGGTCGAGAGTCTCTCTCTCACCAGCACCTCCCACAGCCCATCGCAGCATTTTACTTTTACATATGCCAAGAATACTTTAGAAATGCTTTATCACATTGCACTATCATGACTCGCTAAGTAAACACCAGCAAGCATTTAATGAGTACCTGCTGCATGCCAGCTACCAGGCAGGGCTAGGAGGTGACTTCCAAAATTACCTATTCTATTCCAGTGCTCATTTAAAAGATGGGCAAGCCAAAGCGCAGAGTGACTAGTGACCTGCCCAAGGTCACAAGACCTTGAACAACAGAACCAAAACTTCACCCTAGATCTCATGACTTCCCCTTCCTATGCTCTTTCCAACATATCCAGACAAACATCTTGGGAATGGATGCTCAGGGTTGAAAGGTTGGAAAACAAGGGAACTAACTAGGAAATTTAAACTTCTGGGACTGAATCCATCTACTTTGAATGAATGGGACAAATAGCCAAATAGTACCTCAGTGTTTGTGATCTATGAATGACTTCCATCCCTCTGTATAAAGTGGACACACATTGCTGCCTGGCTCTTCATCCCAAGGGGCTCCTATCCAAACAGCTTATATAAATTGATACCTTCCTACCACCTTAGCCAATGTTAGGTTGAACCCTATGAAGTTGTCATTTTTTATGGGTCAAAGAGGTAGAATATTAGCAATTTCATATGGTTCCACCTGATACACCCTCACATACGCAGCAATAAGTTGTGCACCCGATGGAGAGGAAAAGGCACTGGGTGCGGGGAGAGGGGCTGGTCAGAGGCCTGAGCCTCAGTGTCCCCAATATATTCATAGCTCTGACCCCAGGACTGGAAGCCACTCACTCTTTGACTTCTTTGGAGGAAAAGTCCAGGTAGCGATTGCTGATCCACTGAATCTCAAACCAGTCCTGAAAACCGTTGTTGCCGCAGCATTTGAACTCGATCTGCAGCATGTCGATGGTCTTCTTCATGAAACACCTGCCAGGGGTGTCTGTGTCCCGGTAGTACTTCATGCCGTTCTTGAGCCCTTGGCCCAGGGTGTTCTCCAGCGAGCCCCGAAGCAGAAAGCAGCAGAGAGCCACAAGGAAGAGGATGATGTTGAAGAGAACACAGATAGCCAGGTACGGCTTCAGCCAGGGCTTCCATCTGGCATACTTGGCTGGGTCCAGGGCGTCGTAGCAGATCTTCCCAGCCAGCGAGTTGAAGACACAGGATAGCACCCCCATCCCTATCAATGAGTTGGGCACAAAATGGCTCTCAGAATTATTCATCACATCGCTCCTCTTTCGGAGTTCAATCTTCAGGAACAGTCCTAGGCTGAAGATGATGATGCCAGCCAACACGGAGAACCAGTTCATGAGCCAGAGCCCTTGGGCCAACTTGACCCGCTTCTTCTGGTCAAACTTGACTTTCAGTAGCGCCATGCTTGCCAAGTGTAGTCCGGGTTGCTTCCCACAGCACAGCTCCCACCCCAAACCTTAACGAGCCCAGAGGCGGAGACTTAGGGCCTTGGGAAAAGTGCAGATGGCCCAAGCTGTAGGGAGCTGCCCTGGGGGCTACCCATGTCGAGTCCCACTAGCCTGGGATCCCCGTGAATGCAGTAGTGGTGGCAGGGGTCTCGGAATCACAGCTTGAGCAGGGGATAGTCCTGGTCCTGGGCGTTGTTTCTTCAGCGCCCTTCCCAGCCAAGAAGGGGCAGCCTGAACGCTGCAGATTAAAAGTGGGATCCACAAGACATTTTGCTAATCTCTTTAGCCAGGTTCATCCCATTAGATAAAGCCATGCCACTCTCAAAACATGGTCAAAAGCAGCCTCCAGGTACATGCTGAACCAGAAAGCTCTGGGTACAGCTTGGAGAATCAGGAGCAAAGGGCAAGACTGGCCAGAAGAATGGGCTGTATCTGGATGTCTGGCTCAGACCGTGTTGCTCCCCAAAAGCATATTTCCAGGCCAATCTCCTTCAACATTTAAAACTTTCTGTAGGACAAATAAATTGTTATCCTCTCTGAGAAAAGAAATGACAGGGCCAGGCACAGTGGATCACGCCTATAATCCCAGCACTTTGGGAGACCAAGTTGGGTGGATCACTTGAGCCCAGGAGTTCAAGACCAGCCTGGGCTACATAGGAAGACCCCATCTCCACACACACACACACACACACAAAAAAAAAAAAAAAAAAATTAGCTGGGTATGGTGGCATGCACCTGTAGTTCTCCCAGCTACTCTGGAGGCTGAGGTGGCAAGATCACCTGAGCCTGGGGAGTTCAAGGCTGCACTGAGCCATGATCGTGCCACTGCACTCCAGCCTGGGTGACAGAGTGAGGCCCTGTCTCAAATTTTAAAAAGACAAAGAAAAGAAGAGAAGAAGGAAGGAAAGAAAGAAAGTGACAGATCGTGAGAAAACATTTGCAACTTGTAAAATTAAAAAGTAATATACAGTGGCCAGGCATGGTGGCTTATGCCTGTAATCCCAGTACTTTGGGAGGCCAAGGCAGGTGGATCGCTTGAGCCCAGGAGGTGGAGGTTGCACTGAACTGAGATCCCCACATTGCACTCCAGCCTGGGTGACAGTGAGACTCTGTCTGGAAAAAAAAAAAAAAGAATTAATATGCAAAAATGTTTTAAGTCTCACAAATTCACAATAAACAAAAATTCACAATCAAAAGACCAATAATCAACTGGAAAAATAGGCAAAAACCAGGAACAGACAATTCATAATTAGGAAACTTGAAAAGTCCAATAATCTGGAAAAGATCTCAACTTGGGTAATAAGCAGGAAAATGCAAATCCAAACAACAATAAAATACCAAACTTGGCCGGGCACAGTGGTTCACACCTGTAATCCCAGCAGTTTGGAAGGCCAAGGTGGGTGGATCACTTGAGGTCAGGCATTCAAGACCAGCCTGGCCAACATGGTGAAACCCTGTCTCTACTAAAAATACAAAAATTGTCTGGGT
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Task1_train_10316
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Given this variant in gene PRPH2 (peripherin 2) on Chromosome 6, classify it as benign or pathogenic. Include the disorder it may cause if applicable.
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Pathogenic; Retinitis pigmentosa 7
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TTGGTCAGGCTGGTCTCGAACTCCTGAACTCAGGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCTACCGCACCCGGCCCTAAATTGTCTTTATACTATCATTACACTGTATGATTATGTAAATGTTAACAAGACTAGACTGAAACTGAAATGTAGAAAAACTAAAGGCATTAATCAAGTTATGGGTGAGAAGCTAGCTTGAATTTGTTTTCCTATTTTGGCTTCTTTTAATATTACTGCTGTATTTTTTGTGCGTGTAATAGAAGAATTTTTCCAAGTCAGTGGAGTTAGGAAAATTTCCCACCAACAAGTTGGTATGGGACATTGAAGGAGTTTTGATTCAGCTAAATATTTGCCTGAAATTTTGGATCCATTGACCATTGAGAGTGGAGTGACCTAGATAATTCCTTCACTCTGATACAAAAGGGGATTTGGAGTTACCGAGAGATTTGAATACATCTGTCCAAGAACTGACTCTATGCAGGAGACAATCAAGGGAAATGATAGAGGAAAAGATGAAAAGCCCCTTCTCTGTGAGCCTCTGCTCACAGAGGCTGGTTCTACCATCGGCCTCTCCCACTCCCCAGAATTCTGCTTGTCCCCCTGGCTTCATGCCCTCCTCGGGAGATTTATGTAAATCGTGGCATCTTGTGCTGCCCCTGCAGACCTGTCACCTGGGAAGGGCACAGCCCTTTACAATCCTCTCCTGACTGGGGATTTGCAGCAGTAATCTCCATCCACAAGAAAATAAAATCCCAAGAAGTGACCTTCACTTGGACGTCCCTTCCATCTGCAGGGCAGATATAAGCTAGCTATTTGGGCGTCATTAATGTTGTTTTGGGCTTCAAACATGTCCTGCTGCTGGTGCCAATGCCCTGAGTTCAAGTTCCCTTTGGACTTGCCAGCCTCACTGGGAAGAAAAAAAAACCACCCTTAGGAATAACTGAACCCCTAACCTCAGCCAGGTAGGGTCGAGTCAGACAGAAAGAAGAGGTGAGGGAAAGCGGCTGCCTCAAGGCAGGCTGCCCTTTCCCTGAAAAGTCACTCGAGCCCCAGGTTGGTGGGTGTGTTGGGAAGAGCAGCCCGCTGGAGCCAGTGCACAGGCTGTTCCCTCCGACACAGTGGTCGAGAGTCTCTCTCTCACCAGCACCTCCCACAGCCCATCGCAGCATTTTACTTTTACATATGCCAAGAATACTTTAGAAATGCTTTATCACATTGCACTATCATGACTCGCTAAGTAAACACCAGCAAGCATTTAATGAGTACCTGCTGCATGCCAGCTACCAGGCAGGGCTAGGAGGTGACTTCCAAAATTACCTATTCTATTCCAGTGCTCATTTAAAAGATGGGCAAGCCAAAGCGCAGAGTGACTAGTGACCTGCCCAAGGTCACAAGACCTTGAACAACAGAACCAAAACTTCACCCTAGATCTCATGACTTCCCCTTCCTATGCTCTTTCCAACATATCCAGACAAACATCTTGGGAATGGATGCTCAGGGTTGAAAGGTTGGAAAACAAGGGAACTAACTAGGAAATTTAAACTTCTGGGACTGAATCCATCTACTTTGAATGAATGGGACAAATAGCCAAATAGTACCTCAGTGTTTGTGATCTATGAATGACTTCCATCCCTCTGTATAAAGTGGACACACATTGCTGCCTGGCTCTTCATCCCAAGGGGCTCCTATCCAAACAGCTTATATAAATTGATACCTTCCTACCACCTTAGCCAATGTTAGGTTGAACCCTATGAAGTTGTCATTTTTTATGGGTCAAAGAGGTAGAATATTAGCAATTTCATATGGTTCCACCTGATACACCCTCACATACGCAGCAATAAGTTGTGCACCCGATGGAGAGGAAAAGGCACTGGGTGCGGGGAGAGGGGCTGGTCAGAGGCCTGAGCCTCAGTGTCCCCAATATATTCATAGCTCTGACCCCAGGACTGGAAGCCACTCACTCTTTGACTTCTTTGGAGGAAAAGTCCAGGTAGCGATTGCTGATCCACTGAATCTCAAACCAGTCCCGAAAACCGTTGTTGCCGCAGCATTTGAACTCGATCTGCAGCATGTCGATGGTCTTCTTCATGAAACACCTGCCAGGGGTGTCTGTGTCCCGGTAGTACTTCATGCCGTTCTTGAGCCCTTGGCCCAGGGTGTTCTCCAGCGAGCCCCGAAGCAGAAAGCAGCAGAGAGCCACAAGGAAGAGGATGATGTTGAAGAGAACACAGATAGCCAGGTACGGCTTCAGCCAGGGCTTCCATCTGGCATACTTGGCTGGGTCCAGGGCGTCGTAGCAGATCTTCCCAGCCAGCGAGTTGAAGACACAGGATAGCACCCCCATCCCTATCAATGAGTTGGGCACAAAATGGCTCTCAGAATTATTCATCACATCGCTCCTCTTTCGGAGTTCAATCTTCAGGAACAGTCCTAGGCTGAAGATGATGATGCCAGCCAACACGGAGAACCAGTTCATGAGCCAGAGCCCTTGGGCCAACTTGACCCGCTTCTTCTGGTCAAACTTGACTTTCAGTAGCGCCATGCTTGCCAAGTGTAGTCCGGGTTGCTTCCCACAGCACAGCTCCCACCCCAAACCTTAACGAGCCCAGAGGCGGAGACTTAGGGCCTTGGGAAAAGTGCAGATGGCCCAAGCTGTAGGGAGCTGCCCTGGGGGCTACCCATGTCGAGTCCCACTAGCCTGGGATCCCCGTGAATGCAGTAGTGGTGGCAGGGGTCTCGGAATCACAGCTTGAGCAGGGGATAGTCCTGGTCCTGGGCGTTGTTTCTTCAGCGCCCTTCCCAGCCAAGAAGGGGCAGCCTGAACGCTGCAGATTAAAAGTGGGATCCACAAGACATTTTGCTAATCTCTTTAGCCAGGTTCATCCCATTAGATAAAGCCATGCCACTCTCAAAACATGGTCAAAAGCAGCCTCCAGGTACATGCTGAACCAGAAAGCTCTGGGTACAGCTTGGAGAATCAGGAGCAAAGGGCAAGACTGGCCAGAAGAATGGGCTGTATCTGGATGTCTGGCTCAGACCGTGTTGCTCCCCAAAAGCATATTTCCAGGCCAATCTCCTTCAACATTTAAAACTTTCTGTAGGACAAATAAATTGTTATCCTCTCTGAGAAAAGAAATGACAGGGCCAGGCACAGTGGATCACGCCTATAATCCCAGCACTTTGGGAGACCAAGTTGGGTGGATCACTTGAGCCCAGGAGTTCAAGACCAGCCTGGGCTACATAGGAAGACCCCATCTCCACACACACACACACACACACAAAAAAAAAAAAAAAAAAATTAGCTGGGTATGGTGGCATGCACCTGTAGTTCTCCCAGCTACTCTGGAGGCTGAGGTGGCAAGATCACCTGAGCCTGGGGAGTTCAAGGCTGCACTGAGCCATGATCGTGCCACTGCACTCCAGCCTGGGTGACAGAGTGAGGCCCTGTCTCAAATTTTAAAAAGACAAAGAAAAGAAGAGAAGAAGGAAGGAAAGAAAGAAAGTGACAGATCGTGAGAAAACATTTGCAACTTGTAAAATTAAAAAGTAATATACAGTGGCCAGGCATGGTGGCTTATGCCTGTAATCCCAGTACTTTGGGAGGCCAAGGCAGGTGGATCGCTTGAGCCCAGGAGGTGGAGGTTGCACTGAACTGAGATCCCCACATTGCACTCCAGCCTGGGTGACAGTGAGACTCTGTCTGGAAAAAAAAAAAAAAGAATTAATATGCAAAAATGTTTTAAGTCTCACAAATTCACAATAAACAAAAATTCACAATCAAAAGACCAATAATCAACTGGAAAAATAGGCAAAAACCAGGAACAGACAATTCATAATTAGGAAACTTGAAAAGTCCAATAATCTGGAAAAGATCTCAACTTGGGTAATAAGCAGGAAAATGCAAATCCAAACAACAATAAAATACCAAACTTGGCCGGGCACAGTGGTTCACACCTGTAATCCCAGCAGTTTGGAAGGCCAAGGTGGGTGGATCACTTGAGGTCAGGCATTCAAGACCAGCCTGGCCAACATGGTGAAACCCTGTCTCTACTAAAAATACAAAAATTGTCTGGGT
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TTGGTCAGGCTGGTCTCGAACTCCTGAACTCAGGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCTACCGCACCCGGCCCTAAATTGTCTTTATACTATCATTACACTGTATGATTATGTAAATGTTAACAAGACTAGACTGAAACTGAAATGTAGAAAAACTAAAGGCATTAATCAAGTTATGGGTGAGAAGCTAGCTTGAATTTGTTTTCCTATTTTGGCTTCTTTTAATATTACTGCTGTATTTTTTGTGCGTGTAATAGAAGAATTTTTCCAAGTCAGTGGAGTTAGGAAAATTTCCCACCAACAAGTTGGTATGGGACATTGAAGGAGTTTTGATTCAGCTAAATATTTGCCTGAAATTTTGGATCCATTGACCATTGAGAGTGGAGTGACCTAGATAATTCCTTCACTCTGATACAAAAGGGGATTTGGAGTTACCGAGAGATTTGAATACATCTGTCCAAGAACTGACTCTATGCAGGAGACAATCAAGGGAAATGATAGAGGAAAAGATGAAAAGCCCCTTCTCTGTGAGCCTCTGCTCACAGAGGCTGGTTCTACCATCGGCCTCTCCCACTCCCCAGAATTCTGCTTGTCCCCCTGGCTTCATGCCCTCCTCGGGAGATTTATGTAAATCGTGGCATCTTGTGCTGCCCCTGCAGACCTGTCACCTGGGAAGGGCACAGCCCTTTACAATCCTCTCCTGACTGGGGATTTGCAGCAGTAATCTCCATCCACAAGAAAATAAAATCCCAAGAAGTGACCTTCACTTGGACGTCCCTTCCATCTGCAGGGCAGATATAAGCTAGCTATTTGGGCGTCATTAATGTTGTTTTGGGCTTCAAACATGTCCTGCTGCTGGTGCCAATGCCCTGAGTTCAAGTTCCCTTTGGACTTGCCAGCCTCACTGGGAAGAAAAAAAAACCACCCTTAGGAATAACTGAACCCCTAACCTCAGCCAGGTAGGGTCGAGTCAGACAGAAAGAAGAGGTGAGGGAAAGCGGCTGCCTCAAGGCAGGCTGCCCTTTCCCTGAAAAGTCACTCGAGCCCCAGGTTGGTGGGTGTGTTGGGAAGAGCAGCCCGCTGGAGCCAGTGCACAGGCTGTTCCCTCCGACACAGTGGTCGAGAGTCTCTCTCTCACCAGCACCTCCCACAGCCCATCGCAGCATTTTACTTTTACATATGCCAAGAATACTTTAGAAATGCTTTATCACATTGCACTATCATGACTCGCTAAGTAAACACCAGCAAGCATTTAATGAGTACCTGCTGCATGCCAGCTACCAGGCAGGGCTAGGAGGTGACTTCCAAAATTACCTATTCTATTCCAGTGCTCATTTAAAAGATGGGCAAGCCAAAGCGCAGAGTGACTAGTGACCTGCCCAAGGTCACAAGACCTTGAACAACAGAACCAAAACTTCACCCTAGATCTCATGACTTCCCCTTCCTATGCTCTTTCCAACATATCCAGACAAACATCTTGGGAATGGATGCTCAGGGTTGAAAGGTTGGAAAACAAGGGAACTAACTAGGAAATTTAAACTTCTGGGACTGAATCCATCTACTTTGAATGAATGGGACAAATAGCCAAATAGTACCTCAGTGTTTGTGATCTATGAATGACTTCCATCCCTCTGTATAAAGTGGACACACATTGCTGCCTGGCTCTTCATCCCAAGGGGCTCCTATCCAAACAGCTTATATAAATTGATACCTTCCTACCACCTTAGCCAATGTTAGGTTGAACCCTATGAAGTTGTCATTTTTTATGGGTCAAAGAGGTAGAATATTAGCAATTTCATATGGTTCCACCTGATACACCCTCACATACGCAGCAATAAGTTGTGCACCCGATGGAGAGGAAAAGGCACTGGGTGCGGGGAGAGGGGCTGGTCAGAGGCCTGAGCCTCAGTGTCCCCAATATATTCATAGCTCTGACCCCAGGACTGGAAGCCACTCACTCTTTGACTTCTTTGGAGGAAAAGTCCAGGTAGCGATTGCTGATCCACTGAATCTCAAACCAGTCCTGAAAACCGTTGTTGCCGCAGCATTTGAACTCGATCTGCAGCATGTCGATGGTCTTCTTCATGAAACACCTGCCAGGGGTGTCTGTGTCCCGGTAGTACTTCATGCCGTTCTTGAGCCCTTGGCCCAGGGTGTTCTCCAGCGAGCCCCGAAGCAGAAAGCAGCAGAGAGCCACAAGGAAGAGGATGATGTTGAAGAGAACACAGATAGCCAGGTACGGCTTCAGCCAGGGCTTCCATCTGGCATACTTGGCTGGGTCCAGGGCGTCGTAGCAGATCTTCCCAGCCAGCGAGTTGAAGACACAGGATAGCACCCCCATCCCTATCAATGAGTTGGGCACAAAATGGCTCTCAGAATTATTCATCACATCGCTCCTCTTTCGGAGTTCAATCTTCAGGAACAGTCCTAGGCTGAAGATGATGATGCCAGCCAACACGGAGAACCAGTTCATGAGCCAGAGCCCTTGGGCCAACTTGACCCGCTTCTTCTGGTCAAACTTGACTTTCAGTAGCGCCATGCTTGCCAAGTGTAGTCCGGGTTGCTTCCCACAGCACAGCTCCCACCCCAAACCTTAACGAGCCCAGAGGCGGAGACTTAGGGCCTTGGGAAAAGTGCAGATGGCCCAAGCTGTAGGGAGCTGCCCTGGGGGCTACCCATGTCGAGTCCCACTAGCCTGGGATCCCCGTGAATGCAGTAGTGGTGGCAGGGGTCTCGGAATCACAGCTTGAGCAGGGGATAGTCCTGGTCCTGGGCGTTGTTTCTTCAGCGCCCTTCCCAGCCAAGAAGGGGCAGCCTGAACGCTGCAGATTAAAAGTGGGATCCACAAGACATTTTGCTAATCTCTTTAGCCAGGTTCATCCCATTAGATAAAGCCATGCCACTCTCAAAACATGGTCAAAAGCAGCCTCCAGGTACATGCTGAACCAGAAAGCTCTGGGTACAGCTTGGAGAATCAGGAGCAAAGGGCAAGACTGGCCAGAAGAATGGGCTGTATCTGGATGTCTGGCTCAGACCGTGTTGCTCCCCAAAAGCATATTTCCAGGCCAATCTCCTTCAACATTTAAAACTTTCTGTAGGACAAATAAATTGTTATCCTCTCTGAGAAAAGAAATGACAGGGCCAGGCACAGTGGATCACGCCTATAATCCCAGCACTTTGGGAGACCAAGTTGGGTGGATCACTTGAGCCCAGGAGTTCAAGACCAGCCTGGGCTACATAGGAAGACCCCATCTCCACACACACACACACACACACAAAAAAAAAAAAAAAAAAATTAGCTGGGTATGGTGGCATGCACCTGTAGTTCTCCCAGCTACTCTGGAGGCTGAGGTGGCAAGATCACCTGAGCCTGGGGAGTTCAAGGCTGCACTGAGCCATGATCGTGCCACTGCACTCCAGCCTGGGTGACAGAGTGAGGCCCTGTCTCAAATTTTAAAAAGACAAAGAAAAGAAGAGAAGAAGGAAGGAAAGAAAGAAAGTGACAGATCGTGAGAAAACATTTGCAACTTGTAAAATTAAAAAGTAATATACAGTGGCCAGGCATGGTGGCTTATGCCTGTAATCCCAGTACTTTGGGAGGCCAAGGCAGGTGGATCGCTTGAGCCCAGGAGGTGGAGGTTGCACTGAACTGAGATCCCCACATTGCACTCCAGCCTGGGTGACAGTGAGACTCTGTCTGGAAAAAAAAAAAAAAGAATTAATATGCAAAAATGTTTTAAGTCTCACAAATTCACAATAAACAAAAATTCACAATCAAAAGACCAATAATCAACTGGAAAAATAGGCAAAAACCAGGAACAGACAATTCATAATTAGGAAACTTGAAAAGTCCAATAATCTGGAAAAGATCTCAACTTGGGTAATAAGCAGGAAAATGCAAATCCAAACAACAATAAAATACCAAACTTGGCCGGGCACAGTGGTTCACACCTGTAATCCCAGCAGTTTGGAAGGCCAAGGTGGGTGGATCACTTGAGGTCAGGCATTCAAGACCAGCCTGGCCAACATGGTGAAACCCTGTCTCTACTAAAAATACAAAAATTGTCTGGGT
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Task1_train_10317
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A mutation in PRPH2 (peripherin 2), located on Chromosome 6, is being studied. Determine whether it’s pathogenic or benign, and specify the linked disease.
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Pathogenic; Stargardt disease
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TTGGTCAGGCTGGTCTCGAACTCCTGAACTCAGGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCTACCGCACCCGGCCCTAAATTGTCTTTATACTATCATTACACTGTATGATTATGTAAATGTTAACAAGACTAGACTGAAACTGAAATGTAGAAAAACTAAAGGCATTAATCAAGTTATGGGTGAGAAGCTAGCTTGAATTTGTTTTCCTATTTTGGCTTCTTTTAATATTACTGCTGTATTTTTTGTGCGTGTAATAGAAGAATTTTTCCAAGTCAGTGGAGTTAGGAAAATTTCCCACCAACAAGTTGGTATGGGACATTGAAGGAGTTTTGATTCAGCTAAATATTTGCCTGAAATTTTGGATCCATTGACCATTGAGAGTGGAGTGACCTAGATAATTCCTTCACTCTGATACAAAAGGGGATTTGGAGTTACCGAGAGATTTGAATACATCTGTCCAAGAACTGACTCTATGCAGGAGACAATCAAGGGAAATGATAGAGGAAAAGATGAAAAGCCCCTTCTCTGTGAGCCTCTGCTCACAGAGGCTGGTTCTACCATCGGCCTCTCCCACTCCCCAGAATTCTGCTTGTCCCCCTGGCTTCATGCCCTCCTCGGGAGATTTATGTAAATCGTGGCATCTTGTGCTGCCCCTGCAGACCTGTCACCTGGGAAGGGCACAGCCCTTTACAATCCTCTCCTGACTGGGGATTTGCAGCAGTAATCTCCATCCACAAGAAAATAAAATCCCAAGAAGTGACCTTCACTTGGACGTCCCTTCCATCTGCAGGGCAGATATAAGCTAGCTATTTGGGCGTCATTAATGTTGTTTTGGGCTTCAAACATGTCCTGCTGCTGGTGCCAATGCCCTGAGTTCAAGTTCCCTTTGGACTTGCCAGCCTCACTGGGAAGAAAAAAAAACCACCCTTAGGAATAACTGAACCCCTAACCTCAGCCAGGTAGGGTCGAGTCAGACAGAAAGAAGAGGTGAGGGAAAGCGGCTGCCTCAAGGCAGGCTGCCCTTTCCCTGAAAAGTCACTCGAGCCCCAGGTTGGTGGGTGTGTTGGGAAGAGCAGCCCGCTGGAGCCAGTGCACAGGCTGTTCCCTCCGACACAGTGGTCGAGAGTCTCTCTCTCACCAGCACCTCCCACAGCCCATCGCAGCATTTTACTTTTACATATGCCAAGAATACTTTAGAAATGCTTTATCACATTGCACTATCATGACTCGCTAAGTAAACACCAGCAAGCATTTAATGAGTACCTGCTGCATGCCAGCTACCAGGCAGGGCTAGGAGGTGACTTCCAAAATTACCTATTCTATTCCAGTGCTCATTTAAAAGATGGGCAAGCCAAAGCGCAGAGTGACTAGTGACCTGCCCAAGGTCACAAGACCTTGAACAACAGAACCAAAACTTCACCCTAGATCTCATGACTTCCCCTTCCTATGCTCTTTCCAACATATCCAGACAAACATCTTGGGAATGGATGCTCAGGGTTGAAAGGTTGGAAAACAAGGGAACTAACTAGGAAATTTAAACTTCTGGGACTGAATCCATCTACTTTGAATGAATGGGACAAATAGCCAAATAGTACCTCAGTGTTTGTGATCTATGAATGACTTCCATCCCTCTGTATAAAGTGGACACACATTGCTGCCTGGCTCTTCATCCCAAGGGGCTCCTATCCAAACAGCTTATATAAATTGATACCTTCCTACCACCTTAGCCAATGTTAGGTTGAACCCTATGAAGTTGTCATTTTTTATGGGTCAAAGAGGTAGAATATTAGCAATTTCATATGGTTCCACCTGATACACCCTCACATACGCAGCAATAAGTTGTGCACCCGATGGAGAGGAAAAGGCACTGGGTGCGGGGAGAGGGGCTGGTCAGAGGCCTGAGCCTCAGTGTCCCCAATATATTCATAGCTCTGACCCCAGGACTGGAAGCCACTCACTCTTTGACTTCTTTGGAGGAAAAGTCCAGGTAGCGATTGCTGATCCACTGAATCTCAAACCAGTCCCGAAAACCGTTGTTGCCGCAGCATTTGAACTCGATCTGCAGCATGTCGATGGTCTTCTTCATGAAACACCTGCCAGGGGTGTCTGTGTCCCGGTAGTACTTCATGCCGTTCTTGAGCCCTTGGCCCAGGGTGTTCTCCAGCGAGCCCCGAAGCAGAAAGCAGCAGAGAGCCACAAGGAAGAGGATGATGTTGAAGAGAACACAGATAGCCAGGTACGGCTTCAGCCAGGGCTTCCATCTGGCATACTTGGCTGGGTCCAGGGCGTCGTAGCAGATCTTCCCAGCCAGCGAGTTGAAGACACAGGATAGCACCCCCATCCCTATCAATGAGTTGGGCACAAAATGGCTCTCAGAATTATTCATCACATCGCTCCTCTTTCGGAGTTCAATCTTCAGGAACAGTCCTAGGCTGAAGATGATGATGCCAGCCAACACGGAGAACCAGTTCATGAGCCAGAGCCCTTGGGCCAACTTGACCCGCTTCTTCTGGTCAAACTTGACTTTCAGTAGCGCCATGCTTGCCAAGTGTAGTCCGGGTTGCTTCCCACAGCACAGCTCCCACCCCAAACCTTAACGAGCCCAGAGGCGGAGACTTAGGGCCTTGGGAAAAGTGCAGATGGCCCAAGCTGTAGGGAGCTGCCCTGGGGGCTACCCATGTCGAGTCCCACTAGCCTGGGATCCCCGTGAATGCAGTAGTGGTGGCAGGGGTCTCGGAATCACAGCTTGAGCAGGGGATAGTCCTGGTCCTGGGCGTTGTTTCTTCAGCGCCCTTCCCAGCCAAGAAGGGGCAGCCTGAACGCTGCAGATTAAAAGTGGGATCCACAAGACATTTTGCTAATCTCTTTAGCCAGGTTCATCCCATTAGATAAAGCCATGCCACTCTCAAAACATGGTCAAAAGCAGCCTCCAGGTACATGCTGAACCAGAAAGCTCTGGGTACAGCTTGGAGAATCAGGAGCAAAGGGCAAGACTGGCCAGAAGAATGGGCTGTATCTGGATGTCTGGCTCAGACCGTGTTGCTCCCCAAAAGCATATTTCCAGGCCAATCTCCTTCAACATTTAAAACTTTCTGTAGGACAAATAAATTGTTATCCTCTCTGAGAAAAGAAATGACAGGGCCAGGCACAGTGGATCACGCCTATAATCCCAGCACTTTGGGAGACCAAGTTGGGTGGATCACTTGAGCCCAGGAGTTCAAGACCAGCCTGGGCTACATAGGAAGACCCCATCTCCACACACACACACACACACACAAAAAAAAAAAAAAAAAAATTAGCTGGGTATGGTGGCATGCACCTGTAGTTCTCCCAGCTACTCTGGAGGCTGAGGTGGCAAGATCACCTGAGCCTGGGGAGTTCAAGGCTGCACTGAGCCATGATCGTGCCACTGCACTCCAGCCTGGGTGACAGAGTGAGGCCCTGTCTCAAATTTTAAAAAGACAAAGAAAAGAAGAGAAGAAGGAAGGAAAGAAAGAAAGTGACAGATCGTGAGAAAACATTTGCAACTTGTAAAATTAAAAAGTAATATACAGTGGCCAGGCATGGTGGCTTATGCCTGTAATCCCAGTACTTTGGGAGGCCAAGGCAGGTGGATCGCTTGAGCCCAGGAGGTGGAGGTTGCACTGAACTGAGATCCCCACATTGCACTCCAGCCTGGGTGACAGTGAGACTCTGTCTGGAAAAAAAAAAAAAAGAATTAATATGCAAAAATGTTTTAAGTCTCACAAATTCACAATAAACAAAAATTCACAATCAAAAGACCAATAATCAACTGGAAAAATAGGCAAAAACCAGGAACAGACAATTCATAATTAGGAAACTTGAAAAGTCCAATAATCTGGAAAAGATCTCAACTTGGGTAATAAGCAGGAAAATGCAAATCCAAACAACAATAAAATACCAAACTTGGCCGGGCACAGTGGTTCACACCTGTAATCCCAGCAGTTTGGAAGGCCAAGGTGGGTGGATCACTTGAGGTCAGGCATTCAAGACCAGCCTGGCCAACATGGTGAAACCCTGTCTCTACTAAAAATACAAAAATTGTCTGGGT
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TTGGTCAGGCTGGTCTCGAACTCCTGAACTCAGGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCTACCGCACCCGGCCCTAAATTGTCTTTATACTATCATTACACTGTATGATTATGTAAATGTTAACAAGACTAGACTGAAACTGAAATGTAGAAAAACTAAAGGCATTAATCAAGTTATGGGTGAGAAGCTAGCTTGAATTTGTTTTCCTATTTTGGCTTCTTTTAATATTACTGCTGTATTTTTTGTGCGTGTAATAGAAGAATTTTTCCAAGTCAGTGGAGTTAGGAAAATTTCCCACCAACAAGTTGGTATGGGACATTGAAGGAGTTTTGATTCAGCTAAATATTTGCCTGAAATTTTGGATCCATTGACCATTGAGAGTGGAGTGACCTAGATAATTCCTTCACTCTGATACAAAAGGGGATTTGGAGTTACCGAGAGATTTGAATACATCTGTCCAAGAACTGACTCTATGCAGGAGACAATCAAGGGAAATGATAGAGGAAAAGATGAAAAGCCCCTTCTCTGTGAGCCTCTGCTCACAGAGGCTGGTTCTACCATCGGCCTCTCCCACTCCCCAGAATTCTGCTTGTCCCCCTGGCTTCATGCCCTCCTCGGGAGATTTATGTAAATCGTGGCATCTTGTGCTGCCCCTGCAGACCTGTCACCTGGGAAGGGCACAGCCCTTTACAATCCTCTCCTGACTGGGGATTTGCAGCAGTAATCTCCATCCACAAGAAAATAAAATCCCAAGAAGTGACCTTCACTTGGACGTCCCTTCCATCTGCAGGGCAGATATAAGCTAGCTATTTGGGCGTCATTAATGTTGTTTTGGGCTTCAAACATGTCCTGCTGCTGGTGCCAATGCCCTGAGTTCAAGTTCCCTTTGGACTTGCCAGCCTCACTGGGAAGAAAAAAAAACCACCCTTAGGAATAACTGAACCCCTAACCTCAGCCAGGTAGGGTCGAGTCAGACAGAAAGAAGAGGTGAGGGAAAGCGGCTGCCTCAAGGCAGGCTGCCCTTTCCCTGAAAAGTCACTCGAGCCCCAGGTTGGTGGGTGTGTTGGGAAGAGCAGCCCGCTGGAGCCAGTGCACAGGCTGTTCCCTCCGACACAGTGGTCGAGAGTCTCTCTCTCACCAGCACCTCCCACAGCCCATCGCAGCATTTTACTTTTACATATGCCAAGAATACTTTAGAAATGCTTTATCACATTGCACTATCATGACTCGCTAAGTAAACACCAGCAAGCATTTAATGAGTACCTGCTGCATGCCAGCTACCAGGCAGGGCTAGGAGGTGACTTCCAAAATTACCTATTCTATTCCAGTGCTCATTTAAAAGATGGGCAAGCCAAAGCGCAGAGTGACTAGTGACCTGCCCAAGGTCACAAGACCTTGAACAACAGAACCAAAACTTCACCCTAGATCTCATGACTTCCCCTTCCTATGCTCTTTCCAACATATCCAGACAAACATCTTGGGAATGGATGCTCAGGGTTGAAAGGTTGGAAAACAAGGGAACTAACTAGGAAATTTAAACTTCTGGGACTGAATCCATCTACTTTGAATGAATGGGACAAATAGCCAAATAGTACCTCAGTGTTTGTGATCTATGAATGACTTCCATCCCTCTGTATAAAGTGGACACACATTGCTGCCTGGCTCTTCATCCCAAGGGGCTCCTATCCAAACAGCTTATATAAATTGATACCTTCCTACCACCTTAGCCAATGTTAGGTTGAACCCTATGAAGTTGTCATTTTTTATGGGTCAAAGAGGTAGAATATTAGCAATTTCATATGGTTCCACCTGATACACCCTCACATACGCAGCAATAAGTTGTGCACCCGATGGAGAGGAAAAGGCACTGGGTGCGGGGAGAGGGGCTGGTCAGAGGCCTGAGCCTCAGTGTCCCCAATATATTCATAGCTCTGACCCCAGGACTGGAAGCCACTCACTCTTTGACTTCTTTGGAGGAAAAGTCCAGGTAGCGATTGCTGATCCACTGAATCTCAAACCAGTCCTGAAAACCGTTGTTGCCGCAGCATTTGAACTCGATCTGCAGCATGTCGATGGTCTTCTTCATGAAACACCTGCCAGGGGTGTCTGTGTCCCGGTAGTACTTCATGCCGTTCTTGAGCCCTTGGCCCAGGGTGTTCTCCAGCGAGCCCCGAAGCAGAAAGCAGCAGAGAGCCACAAGGAAGAGGATGATGTTGAAGAGAACACAGATAGCCAGGTACGGCTTCAGCCAGGGCTTCCATCTGGCATACTTGGCTGGGTCCAGGGCGTCGTAGCAGATCTTCCCAGCCAGCGAGTTGAAGACACAGGATAGCACCCCCATCCCTATCAATGAGTTGGGCACAAAATGGCTCTCAGAATTATTCATCACATCGCTCCTCTTTCGGAGTTCAATCTTCAGGAACAGTCCTAGGCTGAAGATGATGATGCCAGCCAACACGGAGAACCAGTTCATGAGCCAGAGCCCTTGGGCCAACTTGACCCGCTTCTTCTGGTCAAACTTGACTTTCAGTAGCGCCATGCTTGCCAAGTGTAGTCCGGGTTGCTTCCCACAGCACAGCTCCCACCCCAAACCTTAACGAGCCCAGAGGCGGAGACTTAGGGCCTTGGGAAAAGTGCAGATGGCCCAAGCTGTAGGGAGCTGCCCTGGGGGCTACCCATGTCGAGTCCCACTAGCCTGGGATCCCCGTGAATGCAGTAGTGGTGGCAGGGGTCTCGGAATCACAGCTTGAGCAGGGGATAGTCCTGGTCCTGGGCGTTGTTTCTTCAGCGCCCTTCCCAGCCAAGAAGGGGCAGCCTGAACGCTGCAGATTAAAAGTGGGATCCACAAGACATTTTGCTAATCTCTTTAGCCAGGTTCATCCCATTAGATAAAGCCATGCCACTCTCAAAACATGGTCAAAAGCAGCCTCCAGGTACATGCTGAACCAGAAAGCTCTGGGTACAGCTTGGAGAATCAGGAGCAAAGGGCAAGACTGGCCAGAAGAATGGGCTGTATCTGGATGTCTGGCTCAGACCGTGTTGCTCCCCAAAAGCATATTTCCAGGCCAATCTCCTTCAACATTTAAAACTTTCTGTAGGACAAATAAATTGTTATCCTCTCTGAGAAAAGAAATGACAGGGCCAGGCACAGTGGATCACGCCTATAATCCCAGCACTTTGGGAGACCAAGTTGGGTGGATCACTTGAGCCCAGGAGTTCAAGACCAGCCTGGGCTACATAGGAAGACCCCATCTCCACACACACACACACACACACAAAAAAAAAAAAAAAAAAATTAGCTGGGTATGGTGGCATGCACCTGTAGTTCTCCCAGCTACTCTGGAGGCTGAGGTGGCAAGATCACCTGAGCCTGGGGAGTTCAAGGCTGCACTGAGCCATGATCGTGCCACTGCACTCCAGCCTGGGTGACAGAGTGAGGCCCTGTCTCAAATTTTAAAAAGACAAAGAAAAGAAGAGAAGAAGGAAGGAAAGAAAGAAAGTGACAGATCGTGAGAAAACATTTGCAACTTGTAAAATTAAAAAGTAATATACAGTGGCCAGGCATGGTGGCTTATGCCTGTAATCCCAGTACTTTGGGAGGCCAAGGCAGGTGGATCGCTTGAGCCCAGGAGGTGGAGGTTGCACTGAACTGAGATCCCCACATTGCACTCCAGCCTGGGTGACAGTGAGACTCTGTCTGGAAAAAAAAAAAAAAGAATTAATATGCAAAAATGTTTTAAGTCTCACAAATTCACAATAAACAAAAATTCACAATCAAAAGACCAATAATCAACTGGAAAAATAGGCAAAAACCAGGAACAGACAATTCATAATTAGGAAACTTGAAAAGTCCAATAATCTGGAAAAGATCTCAACTTGGGTAATAAGCAGGAAAATGCAAATCCAAACAACAATAAAATACCAAACTTGGCCGGGCACAGTGGTTCACACCTGTAATCCCAGCAGTTTGGAAGGCCAAGGTGGGTGGATCACTTGAGGTCAGGCATTCAAGACCAGCCTGGCCAACATGGTGAAACCCTGTCTCTACTAAAAATACAAAAATTGTCTGGGT
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Task1_train_10318
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This variant affects the gene PRPH2 (peripherin 2) found on Chromosome 6. What is the clinical effect of this variant — benign or pathogenic? State the disease if applicable.
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Pathogenic; PRPH2-related disorder
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TCGAACTCCTGAACTCAGGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCTACCGCACCCGGCCCTAAATTGTCTTTATACTATCATTACACTGTATGATTATGTAAATGTTAACAAGACTAGACTGAAACTGAAATGTAGAAAAACTAAAGGCATTAATCAAGTTATGGGTGAGAAGCTAGCTTGAATTTGTTTTCCTATTTTGGCTTCTTTTAATATTACTGCTGTATTTTTTGTGCGTGTAATAGAAGAATTTTTCCAAGTCAGTGGAGTTAGGAAAATTTCCCACCAACAAGTTGGTATGGGACATTGAAGGAGTTTTGATTCAGCTAAATATTTGCCTGAAATTTTGGATCCATTGACCATTGAGAGTGGAGTGACCTAGATAATTCCTTCACTCTGATACAAAAGGGGATTTGGAGTTACCGAGAGATTTGAATACATCTGTCCAAGAACTGACTCTATGCAGGAGACAATCAAGGGAAATGATAGAGGAAAAGATGAAAAGCCCCTTCTCTGTGAGCCTCTGCTCACAGAGGCTGGTTCTACCATCGGCCTCTCCCACTCCCCAGAATTCTGCTTGTCCCCCTGGCTTCATGCCCTCCTCGGGAGATTTATGTAAATCGTGGCATCTTGTGCTGCCCCTGCAGACCTGTCACCTGGGAAGGGCACAGCCCTTTACAATCCTCTCCTGACTGGGGATTTGCAGCAGTAATCTCCATCCACAAGAAAATAAAATCCCAAGAAGTGACCTTCACTTGGACGTCCCTTCCATCTGCAGGGCAGATATAAGCTAGCTATTTGGGCGTCATTAATGTTGTTTTGGGCTTCAAACATGTCCTGCTGCTGGTGCCAATGCCCTGAGTTCAAGTTCCCTTTGGACTTGCCAGCCTCACTGGGAAGAAAAAAAAACCACCCTTAGGAATAACTGAACCCCTAACCTCAGCCAGGTAGGGTCGAGTCAGACAGAAAGAAGAGGTGAGGGAAAGCGGCTGCCTCAAGGCAGGCTGCCCTTTCCCTGAAAAGTCACTCGAGCCCCAGGTTGGTGGGTGTGTTGGGAAGAGCAGCCCGCTGGAGCCAGTGCACAGGCTGTTCCCTCCGACACAGTGGTCGAGAGTCTCTCTCTCACCAGCACCTCCCACAGCCCATCGCAGCATTTTACTTTTACATATGCCAAGAATACTTTAGAAATGCTTTATCACATTGCACTATCATGACTCGCTAAGTAAACACCAGCAAGCATTTAATGAGTACCTGCTGCATGCCAGCTACCAGGCAGGGCTAGGAGGTGACTTCCAAAATTACCTATTCTATTCCAGTGCTCATTTAAAAGATGGGCAAGCCAAAGCGCAGAGTGACTAGTGACCTGCCCAAGGTCACAAGACCTTGAACAACAGAACCAAAACTTCACCCTAGATCTCATGACTTCCCCTTCCTATGCTCTTTCCAACATATCCAGACAAACATCTTGGGAATGGATGCTCAGGGTTGAAAGGTTGGAAAACAAGGGAACTAACTAGGAAATTTAAACTTCTGGGACTGAATCCATCTACTTTGAATGAATGGGACAAATAGCCAAATAGTACCTCAGTGTTTGTGATCTATGAATGACTTCCATCCCTCTGTATAAAGTGGACACACATTGCTGCCTGGCTCTTCATCCCAAGGGGCTCCTATCCAAACAGCTTATATAAATTGATACCTTCCTACCACCTTAGCCAATGTTAGGTTGAACCCTATGAAGTTGTCATTTTTTATGGGTCAAAGAGGTAGAATATTAGCAATTTCATATGGTTCCACCTGATACACCCTCACATACGCAGCAATAAGTTGTGCACCCGATGGAGAGGAAAAGGCACTGGGTGCGGGGAGAGGGGCTGGTCAGAGGCCTGAGCCTCAGTGTCCCCAATATATTCATAGCTCTGACCCCAGGACTGGAAGCCACTCACTCTTTGACTTCTTTGGAGGAAAAGTCCAGGTAGCGATTGCTGATCCACTGAATCTCAAACCAGTCCCGAAAACCGTTGTTGCCGCAGCATTTGAACTCGATCTGCAGCATGTCGATGGTCTTCTTCATGAAACACCTGCCAGGGGTGTCTGTGTCCCGGTAGTACTTCATGCCGTTCTTGAGCCCTTGGCCCAGGGTGTTCTCCAGCGAGCCCCGAAGCAGAAAGCAGCAGAGAGCCACAAGGAAGAGGATGATGTTGAAGAGAACACAGATAGCCAGGTACGGCTTCAGCCAGGGCTTCCATCTGGCATACTTGGCTGGGTCCAGGGCGTCGTAGCAGATCTTCCCAGCCAGCGAGTTGAAGACACAGGATAGCACCCCCATCCCTATCAATGAGTTGGGCACAAAATGGCTCTCAGAATTATTCATCACATCGCTCCTCTTTCGGAGTTCAATCTTCAGGAACAGTCCTAGGCTGAAGATGATGATGCCAGCCAACACGGAGAACCAGTTCATGAGCCAGAGCCCTTGGGCCAACTTGACCCGCTTCTTCTGGTCAAACTTGACTTTCAGTAGCGCCATGCTTGCCAAGTGTAGTCCGGGTTGCTTCCCACAGCACAGCTCCCACCCCAAACCTTAACGAGCCCAGAGGCGGAGACTTAGGGCCTTGGGAAAAGTGCAGATGGCCCAAGCTGTAGGGAGCTGCCCTGGGGGCTACCCATGTCGAGTCCCACTAGCCTGGGATCCCCGTGAATGCAGTAGTGGTGGCAGGGGTCTCGGAATCACAGCTTGAGCAGGGGATAGTCCTGGTCCTGGGCGTTGTTTCTTCAGCGCCCTTCCCAGCCAAGAAGGGGCAGCCTGAACGCTGCAGATTAAAAGTGGGATCCACAAGACATTTTGCTAATCTCTTTAGCCAGGTTCATCCCATTAGATAAAGCCATGCCACTCTCAAAACATGGTCAAAAGCAGCCTCCAGGTACATGCTGAACCAGAAAGCTCTGGGTACAGCTTGGAGAATCAGGAGCAAAGGGCAAGACTGGCCAGAAGAATGGGCTGTATCTGGATGTCTGGCTCAGACCGTGTTGCTCCCCAAAAGCATATTTCCAGGCCAATCTCCTTCAACATTTAAAACTTTCTGTAGGACAAATAAATTGTTATCCTCTCTGAGAAAAGAAATGACAGGGCCAGGCACAGTGGATCACGCCTATAATCCCAGCACTTTGGGAGACCAAGTTGGGTGGATCACTTGAGCCCAGGAGTTCAAGACCAGCCTGGGCTACATAGGAAGACCCCATCTCCACACACACACACACACACACAAAAAAAAAAAAAAAAAAATTAGCTGGGTATGGTGGCATGCACCTGTAGTTCTCCCAGCTACTCTGGAGGCTGAGGTGGCAAGATCACCTGAGCCTGGGGAGTTCAAGGCTGCACTGAGCCATGATCGTGCCACTGCACTCCAGCCTGGGTGACAGAGTGAGGCCCTGTCTCAAATTTTAAAAAGACAAAGAAAAGAAGAGAAGAAGGAAGGAAAGAAAGAAAGTGACAGATCGTGAGAAAACATTTGCAACTTGTAAAATTAAAAAGTAATATACAGTGGCCAGGCATGGTGGCTTATGCCTGTAATCCCAGTACTTTGGGAGGCCAAGGCAGGTGGATCGCTTGAGCCCAGGAGGTGGAGGTTGCACTGAACTGAGATCCCCACATTGCACTCCAGCCTGGGTGACAGTGAGACTCTGTCTGGAAAAAAAAAAAAAAGAATTAATATGCAAAAATGTTTTAAGTCTCACAAATTCACAATAAACAAAAATTCACAATCAAAAGACCAATAATCAACTGGAAAAATAGGCAAAAACCAGGAACAGACAATTCATAATTAGGAAACTTGAAAAGTCCAATAATCTGGAAAAGATCTCAACTTGGGTAATAAGCAGGAAAATGCAAATCCAAACAACAATAAAATACCAAACTTGGCCGGGCACAGTGGTTCACACCTGTAATCCCAGCAGTTTGGAAGGCCAAGGTGGGTGGATCACTTGAGGTCAGGCATTCAAGACCAGCCTGGCCAACATGGTGAAACCCTGTCTCTACTAAAAATACAAAAATTGTCTGGGTATGGTGACAGGCACC
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TCGAACTCCTGAACTCAGGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCTACCGCACCCGGCCCTAAATTGTCTTTATACTATCATTACACTGTATGATTATGTAAATGTTAACAAGACTAGACTGAAACTGAAATGTAGAAAAACTAAAGGCATTAATCAAGTTATGGGTGAGAAGCTAGCTTGAATTTGTTTTCCTATTTTGGCTTCTTTTAATATTACTGCTGTATTTTTTGTGCGTGTAATAGAAGAATTTTTCCAAGTCAGTGGAGTTAGGAAAATTTCCCACCAACAAGTTGGTATGGGACATTGAAGGAGTTTTGATTCAGCTAAATATTTGCCTGAAATTTTGGATCCATTGACCATTGAGAGTGGAGTGACCTAGATAATTCCTTCACTCTGATACAAAAGGGGATTTGGAGTTACCGAGAGATTTGAATACATCTGTCCAAGAACTGACTCTATGCAGGAGACAATCAAGGGAAATGATAGAGGAAAAGATGAAAAGCCCCTTCTCTGTGAGCCTCTGCTCACAGAGGCTGGTTCTACCATCGGCCTCTCCCACTCCCCAGAATTCTGCTTGTCCCCCTGGCTTCATGCCCTCCTCGGGAGATTTATGTAAATCGTGGCATCTTGTGCTGCCCCTGCAGACCTGTCACCTGGGAAGGGCACAGCCCTTTACAATCCTCTCCTGACTGGGGATTTGCAGCAGTAATCTCCATCCACAAGAAAATAAAATCCCAAGAAGTGACCTTCACTTGGACGTCCCTTCCATCTGCAGGGCAGATATAAGCTAGCTATTTGGGCGTCATTAATGTTGTTTTGGGCTTCAAACATGTCCTGCTGCTGGTGCCAATGCCCTGAGTTCAAGTTCCCTTTGGACTTGCCAGCCTCACTGGGAAGAAAAAAAAACCACCCTTAGGAATAACTGAACCCCTAACCTCAGCCAGGTAGGGTCGAGTCAGACAGAAAGAAGAGGTGAGGGAAAGCGGCTGCCTCAAGGCAGGCTGCCCTTTCCCTGAAAAGTCACTCGAGCCCCAGGTTGGTGGGTGTGTTGGGAAGAGCAGCCCGCTGGAGCCAGTGCACAGGCTGTTCCCTCCGACACAGTGGTCGAGAGTCTCTCTCTCACCAGCACCTCCCACAGCCCATCGCAGCATTTTACTTTTACATATGCCAAGAATACTTTAGAAATGCTTTATCACATTGCACTATCATGACTCGCTAAGTAAACACCAGCAAGCATTTAATGAGTACCTGCTGCATGCCAGCTACCAGGCAGGGCTAGGAGGTGACTTCCAAAATTACCTATTCTATTCCAGTGCTCATTTAAAAGATGGGCAAGCCAAAGCGCAGAGTGACTAGTGACCTGCCCAAGGTCACAAGACCTTGAACAACAGAACCAAAACTTCACCCTAGATCTCATGACTTCCCCTTCCTATGCTCTTTCCAACATATCCAGACAAACATCTTGGGAATGGATGCTCAGGGTTGAAAGGTTGGAAAACAAGGGAACTAACTAGGAAATTTAAACTTCTGGGACTGAATCCATCTACTTTGAATGAATGGGACAAATAGCCAAATAGTACCTCAGTGTTTGTGATCTATGAATGACTTCCATCCCTCTGTATAAAGTGGACACACATTGCTGCCTGGCTCTTCATCCCAAGGGGCTCCTATCCAAACAGCTTATATAAATTGATACCTTCCTACCACCTTAGCCAATGTTAGGTTGAACCCTATGAAGTTGTCATTTTTTATGGGTCAAAGAGGTAGAATATTAGCAATTTCATATGGTTCCACCTGATACACCCTCACATACGCAGCAATAAGTTGTGCACCCGATGGAGAGGAAAAGGCACTGGGTGCGGGGAGAGGGGCTGGTCAGAGGCCTGAGCCTCAGTGTCCCCAATATATTCATAGCTCTGACCCCAGGACTGGAAGCCACTCACTCTTTGACTTCTTTGGAGGAAAAGTCCAGGTAGCGATTGCTGATCCACTGAATCTCAAACCAGTCCCGAAAACCGTTGTTGTCGCAGCATTTGAACTCGATCTGCAGCATGTCGATGGTCTTCTTCATGAAACACCTGCCAGGGGTGTCTGTGTCCCGGTAGTACTTCATGCCGTTCTTGAGCCCTTGGCCCAGGGTGTTCTCCAGCGAGCCCCGAAGCAGAAAGCAGCAGAGAGCCACAAGGAAGAGGATGATGTTGAAGAGAACACAGATAGCCAGGTACGGCTTCAGCCAGGGCTTCCATCTGGCATACTTGGCTGGGTCCAGGGCGTCGTAGCAGATCTTCCCAGCCAGCGAGTTGAAGACACAGGATAGCACCCCCATCCCTATCAATGAGTTGGGCACAAAATGGCTCTCAGAATTATTCATCACATCGCTCCTCTTTCGGAGTTCAATCTTCAGGAACAGTCCTAGGCTGAAGATGATGATGCCAGCCAACACGGAGAACCAGTTCATGAGCCAGAGCCCTTGGGCCAACTTGACCCGCTTCTTCTGGTCAAACTTGACTTTCAGTAGCGCCATGCTTGCCAAGTGTAGTCCGGGTTGCTTCCCACAGCACAGCTCCCACCCCAAACCTTAACGAGCCCAGAGGCGGAGACTTAGGGCCTTGGGAAAAGTGCAGATGGCCCAAGCTGTAGGGAGCTGCCCTGGGGGCTACCCATGTCGAGTCCCACTAGCCTGGGATCCCCGTGAATGCAGTAGTGGTGGCAGGGGTCTCGGAATCACAGCTTGAGCAGGGGATAGTCCTGGTCCTGGGCGTTGTTTCTTCAGCGCCCTTCCCAGCCAAGAAGGGGCAGCCTGAACGCTGCAGATTAAAAGTGGGATCCACAAGACATTTTGCTAATCTCTTTAGCCAGGTTCATCCCATTAGATAAAGCCATGCCACTCTCAAAACATGGTCAAAAGCAGCCTCCAGGTACATGCTGAACCAGAAAGCTCTGGGTACAGCTTGGAGAATCAGGAGCAAAGGGCAAGACTGGCCAGAAGAATGGGCTGTATCTGGATGTCTGGCTCAGACCGTGTTGCTCCCCAAAAGCATATTTCCAGGCCAATCTCCTTCAACATTTAAAACTTTCTGTAGGACAAATAAATTGTTATCCTCTCTGAGAAAAGAAATGACAGGGCCAGGCACAGTGGATCACGCCTATAATCCCAGCACTTTGGGAGACCAAGTTGGGTGGATCACTTGAGCCCAGGAGTTCAAGACCAGCCTGGGCTACATAGGAAGACCCCATCTCCACACACACACACACACACACAAAAAAAAAAAAAAAAAAATTAGCTGGGTATGGTGGCATGCACCTGTAGTTCTCCCAGCTACTCTGGAGGCTGAGGTGGCAAGATCACCTGAGCCTGGGGAGTTCAAGGCTGCACTGAGCCATGATCGTGCCACTGCACTCCAGCCTGGGTGACAGAGTGAGGCCCTGTCTCAAATTTTAAAAAGACAAAGAAAAGAAGAGAAGAAGGAAGGAAAGAAAGAAAGTGACAGATCGTGAGAAAACATTTGCAACTTGTAAAATTAAAAAGTAATATACAGTGGCCAGGCATGGTGGCTTATGCCTGTAATCCCAGTACTTTGGGAGGCCAAGGCAGGTGGATCGCTTGAGCCCAGGAGGTGGAGGTTGCACTGAACTGAGATCCCCACATTGCACTCCAGCCTGGGTGACAGTGAGACTCTGTCTGGAAAAAAAAAAAAAAGAATTAATATGCAAAAATGTTTTAAGTCTCACAAATTCACAATAAACAAAAATTCACAATCAAAAGACCAATAATCAACTGGAAAAATAGGCAAAAACCAGGAACAGACAATTCATAATTAGGAAACTTGAAAAGTCCAATAATCTGGAAAAGATCTCAACTTGGGTAATAAGCAGGAAAATGCAAATCCAAACAACAATAAAATACCAAACTTGGCCGGGCACAGTGGTTCACACCTGTAATCCCAGCAGTTTGGAAGGCCAAGGTGGGTGGATCACTTGAGGTCAGGCATTCAAGACCAGCCTGGCCAACATGGTGAAACCCTGTCTCTACTAAAAATACAAAAATTGTCTGGGTATGGTGACAGGCACC
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Task1_train_10319
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This sequence change occurs on Chromosome 6, altering PRPH2 (peripherin 2). What is the medical significance of this variant — is it benign or linked to a disease?
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Pathogenic; Retinal dystrophy
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AACTCCTGAACTCAGGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCTACCGCACCCGGCCCTAAATTGTCTTTATACTATCATTACACTGTATGATTATGTAAATGTTAACAAGACTAGACTGAAACTGAAATGTAGAAAAACTAAAGGCATTAATCAAGTTATGGGTGAGAAGCTAGCTTGAATTTGTTTTCCTATTTTGGCTTCTTTTAATATTACTGCTGTATTTTTTGTGCGTGTAATAGAAGAATTTTTCCAAGTCAGTGGAGTTAGGAAAATTTCCCACCAACAAGTTGGTATGGGACATTGAAGGAGTTTTGATTCAGCTAAATATTTGCCTGAAATTTTGGATCCATTGACCATTGAGAGTGGAGTGACCTAGATAATTCCTTCACTCTGATACAAAAGGGGATTTGGAGTTACCGAGAGATTTGAATACATCTGTCCAAGAACTGACTCTATGCAGGAGACAATCAAGGGAAATGATAGAGGAAAAGATGAAAAGCCCCTTCTCTGTGAGCCTCTGCTCACAGAGGCTGGTTCTACCATCGGCCTCTCCCACTCCCCAGAATTCTGCTTGTCCCCCTGGCTTCATGCCCTCCTCGGGAGATTTATGTAAATCGTGGCATCTTGTGCTGCCCCTGCAGACCTGTCACCTGGGAAGGGCACAGCCCTTTACAATCCTCTCCTGACTGGGGATTTGCAGCAGTAATCTCCATCCACAAGAAAATAAAATCCCAAGAAGTGACCTTCACTTGGACGTCCCTTCCATCTGCAGGGCAGATATAAGCTAGCTATTTGGGCGTCATTAATGTTGTTTTGGGCTTCAAACATGTCCTGCTGCTGGTGCCAATGCCCTGAGTTCAAGTTCCCTTTGGACTTGCCAGCCTCACTGGGAAGAAAAAAAAACCACCCTTAGGAATAACTGAACCCCTAACCTCAGCCAGGTAGGGTCGAGTCAGACAGAAAGAAGAGGTGAGGGAAAGCGGCTGCCTCAAGGCAGGCTGCCCTTTCCCTGAAAAGTCACTCGAGCCCCAGGTTGGTGGGTGTGTTGGGAAGAGCAGCCCGCTGGAGCCAGTGCACAGGCTGTTCCCTCCGACACAGTGGTCGAGAGTCTCTCTCTCACCAGCACCTCCCACAGCCCATCGCAGCATTTTACTTTTACATATGCCAAGAATACTTTAGAAATGCTTTATCACATTGCACTATCATGACTCGCTAAGTAAACACCAGCAAGCATTTAATGAGTACCTGCTGCATGCCAGCTACCAGGCAGGGCTAGGAGGTGACTTCCAAAATTACCTATTCTATTCCAGTGCTCATTTAAAAGATGGGCAAGCCAAAGCGCAGAGTGACTAGTGACCTGCCCAAGGTCACAAGACCTTGAACAACAGAACCAAAACTTCACCCTAGATCTCATGACTTCCCCTTCCTATGCTCTTTCCAACATATCCAGACAAACATCTTGGGAATGGATGCTCAGGGTTGAAAGGTTGGAAAACAAGGGAACTAACTAGGAAATTTAAACTTCTGGGACTGAATCCATCTACTTTGAATGAATGGGACAAATAGCCAAATAGTACCTCAGTGTTTGTGATCTATGAATGACTTCCATCCCTCTGTATAAAGTGGACACACATTGCTGCCTGGCTCTTCATCCCAAGGGGCTCCTATCCAAACAGCTTATATAAATTGATACCTTCCTACCACCTTAGCCAATGTTAGGTTGAACCCTATGAAGTTGTCATTTTTTATGGGTCAAAGAGGTAGAATATTAGCAATTTCATATGGTTCCACCTGATACACCCTCACATACGCAGCAATAAGTTGTGCACCCGATGGAGAGGAAAAGGCACTGGGTGCGGGGAGAGGGGCTGGTCAGAGGCCTGAGCCTCAGTGTCCCCAATATATTCATAGCTCTGACCCCAGGACTGGAAGCCACTCACTCTTTGACTTCTTTGGAGGAAAAGTCCAGGTAGCGATTGCTGATCCACTGAATCTCAAACCAGTCCCGAAAACCGTTGTTGCCGCAGCATTTGAACTCGATCTGCAGCATGTCGATGGTCTTCTTCATGAAACACCTGCCAGGGGTGTCTGTGTCCCGGTAGTACTTCATGCCGTTCTTGAGCCCTTGGCCCAGGGTGTTCTCCAGCGAGCCCCGAAGCAGAAAGCAGCAGAGAGCCACAAGGAAGAGGATGATGTTGAAGAGAACACAGATAGCCAGGTACGGCTTCAGCCAGGGCTTCCATCTGGCATACTTGGCTGGGTCCAGGGCGTCGTAGCAGATCTTCCCAGCCAGCGAGTTGAAGACACAGGATAGCACCCCCATCCCTATCAATGAGTTGGGCACAAAATGGCTCTCAGAATTATTCATCACATCGCTCCTCTTTCGGAGTTCAATCTTCAGGAACAGTCCTAGGCTGAAGATGATGATGCCAGCCAACACGGAGAACCAGTTCATGAGCCAGAGCCCTTGGGCCAACTTGACCCGCTTCTTCTGGTCAAACTTGACTTTCAGTAGCGCCATGCTTGCCAAGTGTAGTCCGGGTTGCTTCCCACAGCACAGCTCCCACCCCAAACCTTAACGAGCCCAGAGGCGGAGACTTAGGGCCTTGGGAAAAGTGCAGATGGCCCAAGCTGTAGGGAGCTGCCCTGGGGGCTACCCATGTCGAGTCCCACTAGCCTGGGATCCCCGTGAATGCAGTAGTGGTGGCAGGGGTCTCGGAATCACAGCTTGAGCAGGGGATAGTCCTGGTCCTGGGCGTTGTTTCTTCAGCGCCCTTCCCAGCCAAGAAGGGGCAGCCTGAACGCTGCAGATTAAAAGTGGGATCCACAAGACATTTTGCTAATCTCTTTAGCCAGGTTCATCCCATTAGATAAAGCCATGCCACTCTCAAAACATGGTCAAAAGCAGCCTCCAGGTACATGCTGAACCAGAAAGCTCTGGGTACAGCTTGGAGAATCAGGAGCAAAGGGCAAGACTGGCCAGAAGAATGGGCTGTATCTGGATGTCTGGCTCAGACCGTGTTGCTCCCCAAAAGCATATTTCCAGGCCAATCTCCTTCAACATTTAAAACTTTCTGTAGGACAAATAAATTGTTATCCTCTCTGAGAAAAGAAATGACAGGGCCAGGCACAGTGGATCACGCCTATAATCCCAGCACTTTGGGAGACCAAGTTGGGTGGATCACTTGAGCCCAGGAGTTCAAGACCAGCCTGGGCTACATAGGAAGACCCCATCTCCACACACACACACACACACACAAAAAAAAAAAAAAAAAAATTAGCTGGGTATGGTGGCATGCACCTGTAGTTCTCCCAGCTACTCTGGAGGCTGAGGTGGCAAGATCACCTGAGCCTGGGGAGTTCAAGGCTGCACTGAGCCATGATCGTGCCACTGCACTCCAGCCTGGGTGACAGAGTGAGGCCCTGTCTCAAATTTTAAAAAGACAAAGAAAAGAAGAGAAGAAGGAAGGAAAGAAAGAAAGTGACAGATCGTGAGAAAACATTTGCAACTTGTAAAATTAAAAAGTAATATACAGTGGCCAGGCATGGTGGCTTATGCCTGTAATCCCAGTACTTTGGGAGGCCAAGGCAGGTGGATCGCTTGAGCCCAGGAGGTGGAGGTTGCACTGAACTGAGATCCCCACATTGCACTCCAGCCTGGGTGACAGTGAGACTCTGTCTGGAAAAAAAAAAAAAAGAATTAATATGCAAAAATGTTTTAAGTCTCACAAATTCACAATAAACAAAAATTCACAATCAAAAGACCAATAATCAACTGGAAAAATAGGCAAAAACCAGGAACAGACAATTCATAATTAGGAAACTTGAAAAGTCCAATAATCTGGAAAAGATCTCAACTTGGGTAATAAGCAGGAAAATGCAAATCCAAACAACAATAAAATACCAAACTTGGCCGGGCACAGTGGTTCACACCTGTAATCCCAGCAGTTTGGAAGGCCAAGGTGGGTGGATCACTTGAGGTCAGGCATTCAAGACCAGCCTGGCCAACATGGTGAAACCCTGTCTCTACTAAAAATACAAAAATTGTCTGGGTATGGTGACAGGCACCTGT
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AACTCCTGAACTCAGGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCTACCGCACCCGGCCCTAAATTGTCTTTATACTATCATTACACTGTATGATTATGTAAATGTTAACAAGACTAGACTGAAACTGAAATGTAGAAAAACTAAAGGCATTAATCAAGTTATGGGTGAGAAGCTAGCTTGAATTTGTTTTCCTATTTTGGCTTCTTTTAATATTACTGCTGTATTTTTTGTGCGTGTAATAGAAGAATTTTTCCAAGTCAGTGGAGTTAGGAAAATTTCCCACCAACAAGTTGGTATGGGACATTGAAGGAGTTTTGATTCAGCTAAATATTTGCCTGAAATTTTGGATCCATTGACCATTGAGAGTGGAGTGACCTAGATAATTCCTTCACTCTGATACAAAAGGGGATTTGGAGTTACCGAGAGATTTGAATACATCTGTCCAAGAACTGACTCTATGCAGGAGACAATCAAGGGAAATGATAGAGGAAAAGATGAAAAGCCCCTTCTCTGTGAGCCTCTGCTCACAGAGGCTGGTTCTACCATCGGCCTCTCCCACTCCCCAGAATTCTGCTTGTCCCCCTGGCTTCATGCCCTCCTCGGGAGATTTATGTAAATCGTGGCATCTTGTGCTGCCCCTGCAGACCTGTCACCTGGGAAGGGCACAGCCCTTTACAATCCTCTCCTGACTGGGGATTTGCAGCAGTAATCTCCATCCACAAGAAAATAAAATCCCAAGAAGTGACCTTCACTTGGACGTCCCTTCCATCTGCAGGGCAGATATAAGCTAGCTATTTGGGCGTCATTAATGTTGTTTTGGGCTTCAAACATGTCCTGCTGCTGGTGCCAATGCCCTGAGTTCAAGTTCCCTTTGGACTTGCCAGCCTCACTGGGAAGAAAAAAAAACCACCCTTAGGAATAACTGAACCCCTAACCTCAGCCAGGTAGGGTCGAGTCAGACAGAAAGAAGAGGTGAGGGAAAGCGGCTGCCTCAAGGCAGGCTGCCCTTTCCCTGAAAAGTCACTCGAGCCCCAGGTTGGTGGGTGTGTTGGGAAGAGCAGCCCGCTGGAGCCAGTGCACAGGCTGTTCCCTCCGACACAGTGGTCGAGAGTCTCTCTCTCACCAGCACCTCCCACAGCCCATCGCAGCATTTTACTTTTACATATGCCAAGAATACTTTAGAAATGCTTTATCACATTGCACTATCATGACTCGCTAAGTAAACACCAGCAAGCATTTAATGAGTACCTGCTGCATGCCAGCTACCAGGCAGGGCTAGGAGGTGACTTCCAAAATTACCTATTCTATTCCAGTGCTCATTTAAAAGATGGGCAAGCCAAAGCGCAGAGTGACTAGTGACCTGCCCAAGGTCACAAGACCTTGAACAACAGAACCAAAACTTCACCCTAGATCTCATGACTTCCCCTTCCTATGCTCTTTCCAACATATCCAGACAAACATCTTGGGAATGGATGCTCAGGGTTGAAAGGTTGGAAAACAAGGGAACTAACTAGGAAATTTAAACTTCTGGGACTGAATCCATCTACTTTGAATGAATGGGACAAATAGCCAAATAGTACCTCAGTGTTTGTGATCTATGAATGACTTCCATCCCTCTGTATAAAGTGGACACACATTGCTGCCTGGCTCTTCATCCCAAGGGGCTCCTATCCAAACAGCTTATATAAATTGATACCTTCCTACCACCTTAGCCAATGTTAGGTTGAACCCTATGAAGTTGTCATTTTTTATGGGTCAAAGAGGTAGAATATTAGCAATTTCATATGGTTCCACCTGATACACCCTCACATACGCAGCAATAAGTTGTGCACCCGATGGAGAGGAAAAGGCACTGGGTGCGGGGAGAGGGGCTGGTCAGAGGCCTGAGCCTCAGTGTCCCCAATATATTCATAGCTCTGACCCCAGGACTGGAAGCCACTCACTCTTTGACTTCTTTGGAGGAAAAGTCCAGGTAGCGATTGCTGATCCACTGAATCTCAAACCAGTCCCGAAAACCGTTGTTGCCGTAGCATTTGAACTCGATCTGCAGCATGTCGATGGTCTTCTTCATGAAACACCTGCCAGGGGTGTCTGTGTCCCGGTAGTACTTCATGCCGTTCTTGAGCCCTTGGCCCAGGGTGTTCTCCAGCGAGCCCCGAAGCAGAAAGCAGCAGAGAGCCACAAGGAAGAGGATGATGTTGAAGAGAACACAGATAGCCAGGTACGGCTTCAGCCAGGGCTTCCATCTGGCATACTTGGCTGGGTCCAGGGCGTCGTAGCAGATCTTCCCAGCCAGCGAGTTGAAGACACAGGATAGCACCCCCATCCCTATCAATGAGTTGGGCACAAAATGGCTCTCAGAATTATTCATCACATCGCTCCTCTTTCGGAGTTCAATCTTCAGGAACAGTCCTAGGCTGAAGATGATGATGCCAGCCAACACGGAGAACCAGTTCATGAGCCAGAGCCCTTGGGCCAACTTGACCCGCTTCTTCTGGTCAAACTTGACTTTCAGTAGCGCCATGCTTGCCAAGTGTAGTCCGGGTTGCTTCCCACAGCACAGCTCCCACCCCAAACCTTAACGAGCCCAGAGGCGGAGACTTAGGGCCTTGGGAAAAGTGCAGATGGCCCAAGCTGTAGGGAGCTGCCCTGGGGGCTACCCATGTCGAGTCCCACTAGCCTGGGATCCCCGTGAATGCAGTAGTGGTGGCAGGGGTCTCGGAATCACAGCTTGAGCAGGGGATAGTCCTGGTCCTGGGCGTTGTTTCTTCAGCGCCCTTCCCAGCCAAGAAGGGGCAGCCTGAACGCTGCAGATTAAAAGTGGGATCCACAAGACATTTTGCTAATCTCTTTAGCCAGGTTCATCCCATTAGATAAAGCCATGCCACTCTCAAAACATGGTCAAAAGCAGCCTCCAGGTACATGCTGAACCAGAAAGCTCTGGGTACAGCTTGGAGAATCAGGAGCAAAGGGCAAGACTGGCCAGAAGAATGGGCTGTATCTGGATGTCTGGCTCAGACCGTGTTGCTCCCCAAAAGCATATTTCCAGGCCAATCTCCTTCAACATTTAAAACTTTCTGTAGGACAAATAAATTGTTATCCTCTCTGAGAAAAGAAATGACAGGGCCAGGCACAGTGGATCACGCCTATAATCCCAGCACTTTGGGAGACCAAGTTGGGTGGATCACTTGAGCCCAGGAGTTCAAGACCAGCCTGGGCTACATAGGAAGACCCCATCTCCACACACACACACACACACACAAAAAAAAAAAAAAAAAAATTAGCTGGGTATGGTGGCATGCACCTGTAGTTCTCCCAGCTACTCTGGAGGCTGAGGTGGCAAGATCACCTGAGCCTGGGGAGTTCAAGGCTGCACTGAGCCATGATCGTGCCACTGCACTCCAGCCTGGGTGACAGAGTGAGGCCCTGTCTCAAATTTTAAAAAGACAAAGAAAAGAAGAGAAGAAGGAAGGAAAGAAAGAAAGTGACAGATCGTGAGAAAACATTTGCAACTTGTAAAATTAAAAAGTAATATACAGTGGCCAGGCATGGTGGCTTATGCCTGTAATCCCAGTACTTTGGGAGGCCAAGGCAGGTGGATCGCTTGAGCCCAGGAGGTGGAGGTTGCACTGAACTGAGATCCCCACATTGCACTCCAGCCTGGGTGACAGTGAGACTCTGTCTGGAAAAAAAAAAAAAAGAATTAATATGCAAAAATGTTTTAAGTCTCACAAATTCACAATAAACAAAAATTCACAATCAAAAGACCAATAATCAACTGGAAAAATAGGCAAAAACCAGGAACAGACAATTCATAATTAGGAAACTTGAAAAGTCCAATAATCTGGAAAAGATCTCAACTTGGGTAATAAGCAGGAAAATGCAAATCCAAACAACAATAAAATACCAAACTTGGCCGGGCACAGTGGTTCACACCTGTAATCCCAGCAGTTTGGAAGGCCAAGGTGGGTGGATCACTTGAGGTCAGGCATTCAAGACCAGCCTGGCCAACATGGTGAAACCCTGTCTCTACTAAAAATACAAAAATTGTCTGGGTATGGTGACAGGCACCTGT
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Task1_train_10320
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Here is a variant affecting PRPH2 (peripherin 2) on Chromosome 6. Please identify whether it is a benign mutation or associated with a disorder.
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Pathogenic; PRPH2-related disorder
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AACTCCTGAACTCAGGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCTACCGCACCCGGCCCTAAATTGTCTTTATACTATCATTACACTGTATGATTATGTAAATGTTAACAAGACTAGACTGAAACTGAAATGTAGAAAAACTAAAGGCATTAATCAAGTTATGGGTGAGAAGCTAGCTTGAATTTGTTTTCCTATTTTGGCTTCTTTTAATATTACTGCTGTATTTTTTGTGCGTGTAATAGAAGAATTTTTCCAAGTCAGTGGAGTTAGGAAAATTTCCCACCAACAAGTTGGTATGGGACATTGAAGGAGTTTTGATTCAGCTAAATATTTGCCTGAAATTTTGGATCCATTGACCATTGAGAGTGGAGTGACCTAGATAATTCCTTCACTCTGATACAAAAGGGGATTTGGAGTTACCGAGAGATTTGAATACATCTGTCCAAGAACTGACTCTATGCAGGAGACAATCAAGGGAAATGATAGAGGAAAAGATGAAAAGCCCCTTCTCTGTGAGCCTCTGCTCACAGAGGCTGGTTCTACCATCGGCCTCTCCCACTCCCCAGAATTCTGCTTGTCCCCCTGGCTTCATGCCCTCCTCGGGAGATTTATGTAAATCGTGGCATCTTGTGCTGCCCCTGCAGACCTGTCACCTGGGAAGGGCACAGCCCTTTACAATCCTCTCCTGACTGGGGATTTGCAGCAGTAATCTCCATCCACAAGAAAATAAAATCCCAAGAAGTGACCTTCACTTGGACGTCCCTTCCATCTGCAGGGCAGATATAAGCTAGCTATTTGGGCGTCATTAATGTTGTTTTGGGCTTCAAACATGTCCTGCTGCTGGTGCCAATGCCCTGAGTTCAAGTTCCCTTTGGACTTGCCAGCCTCACTGGGAAGAAAAAAAAACCACCCTTAGGAATAACTGAACCCCTAACCTCAGCCAGGTAGGGTCGAGTCAGACAGAAAGAAGAGGTGAGGGAAAGCGGCTGCCTCAAGGCAGGCTGCCCTTTCCCTGAAAAGTCACTCGAGCCCCAGGTTGGTGGGTGTGTTGGGAAGAGCAGCCCGCTGGAGCCAGTGCACAGGCTGTTCCCTCCGACACAGTGGTCGAGAGTCTCTCTCTCACCAGCACCTCCCACAGCCCATCGCAGCATTTTACTTTTACATATGCCAAGAATACTTTAGAAATGCTTTATCACATTGCACTATCATGACTCGCTAAGTAAACACCAGCAAGCATTTAATGAGTACCTGCTGCATGCCAGCTACCAGGCAGGGCTAGGAGGTGACTTCCAAAATTACCTATTCTATTCCAGTGCTCATTTAAAAGATGGGCAAGCCAAAGCGCAGAGTGACTAGTGACCTGCCCAAGGTCACAAGACCTTGAACAACAGAACCAAAACTTCACCCTAGATCTCATGACTTCCCCTTCCTATGCTCTTTCCAACATATCCAGACAAACATCTTGGGAATGGATGCTCAGGGTTGAAAGGTTGGAAAACAAGGGAACTAACTAGGAAATTTAAACTTCTGGGACTGAATCCATCTACTTTGAATGAATGGGACAAATAGCCAAATAGTACCTCAGTGTTTGTGATCTATGAATGACTTCCATCCCTCTGTATAAAGTGGACACACATTGCTGCCTGGCTCTTCATCCCAAGGGGCTCCTATCCAAACAGCTTATATAAATTGATACCTTCCTACCACCTTAGCCAATGTTAGGTTGAACCCTATGAAGTTGTCATTTTTTATGGGTCAAAGAGGTAGAATATTAGCAATTTCATATGGTTCCACCTGATACACCCTCACATACGCAGCAATAAGTTGTGCACCCGATGGAGAGGAAAAGGCACTGGGTGCGGGGAGAGGGGCTGGTCAGAGGCCTGAGCCTCAGTGTCCCCAATATATTCATAGCTCTGACCCCAGGACTGGAAGCCACTCACTCTTTGACTTCTTTGGAGGAAAAGTCCAGGTAGCGATTGCTGATCCACTGAATCTCAAACCAGTCCCGAAAACCGTTGTTGCCGCAGCATTTGAACTCGATCTGCAGCATGTCGATGGTCTTCTTCATGAAACACCTGCCAGGGGTGTCTGTGTCCCGGTAGTACTTCATGCCGTTCTTGAGCCCTTGGCCCAGGGTGTTCTCCAGCGAGCCCCGAAGCAGAAAGCAGCAGAGAGCCACAAGGAAGAGGATGATGTTGAAGAGAACACAGATAGCCAGGTACGGCTTCAGCCAGGGCTTCCATCTGGCATACTTGGCTGGGTCCAGGGCGTCGTAGCAGATCTTCCCAGCCAGCGAGTTGAAGACACAGGATAGCACCCCCATCCCTATCAATGAGTTGGGCACAAAATGGCTCTCAGAATTATTCATCACATCGCTCCTCTTTCGGAGTTCAATCTTCAGGAACAGTCCTAGGCTGAAGATGATGATGCCAGCCAACACGGAGAACCAGTTCATGAGCCAGAGCCCTTGGGCCAACTTGACCCGCTTCTTCTGGTCAAACTTGACTTTCAGTAGCGCCATGCTTGCCAAGTGTAGTCCGGGTTGCTTCCCACAGCACAGCTCCCACCCCAAACCTTAACGAGCCCAGAGGCGGAGACTTAGGGCCTTGGGAAAAGTGCAGATGGCCCAAGCTGTAGGGAGCTGCCCTGGGGGCTACCCATGTCGAGTCCCACTAGCCTGGGATCCCCGTGAATGCAGTAGTGGTGGCAGGGGTCTCGGAATCACAGCTTGAGCAGGGGATAGTCCTGGTCCTGGGCGTTGTTTCTTCAGCGCCCTTCCCAGCCAAGAAGGGGCAGCCTGAACGCTGCAGATTAAAAGTGGGATCCACAAGACATTTTGCTAATCTCTTTAGCCAGGTTCATCCCATTAGATAAAGCCATGCCACTCTCAAAACATGGTCAAAAGCAGCCTCCAGGTACATGCTGAACCAGAAAGCTCTGGGTACAGCTTGGAGAATCAGGAGCAAAGGGCAAGACTGGCCAGAAGAATGGGCTGTATCTGGATGTCTGGCTCAGACCGTGTTGCTCCCCAAAAGCATATTTCCAGGCCAATCTCCTTCAACATTTAAAACTTTCTGTAGGACAAATAAATTGTTATCCTCTCTGAGAAAAGAAATGACAGGGCCAGGCACAGTGGATCACGCCTATAATCCCAGCACTTTGGGAGACCAAGTTGGGTGGATCACTTGAGCCCAGGAGTTCAAGACCAGCCTGGGCTACATAGGAAGACCCCATCTCCACACACACACACACACACACAAAAAAAAAAAAAAAAAAATTAGCTGGGTATGGTGGCATGCACCTGTAGTTCTCCCAGCTACTCTGGAGGCTGAGGTGGCAAGATCACCTGAGCCTGGGGAGTTCAAGGCTGCACTGAGCCATGATCGTGCCACTGCACTCCAGCCTGGGTGACAGAGTGAGGCCCTGTCTCAAATTTTAAAAAGACAAAGAAAAGAAGAGAAGAAGGAAGGAAAGAAAGAAAGTGACAGATCGTGAGAAAACATTTGCAACTTGTAAAATTAAAAAGTAATATACAGTGGCCAGGCATGGTGGCTTATGCCTGTAATCCCAGTACTTTGGGAGGCCAAGGCAGGTGGATCGCTTGAGCCCAGGAGGTGGAGGTTGCACTGAACTGAGATCCCCACATTGCACTCCAGCCTGGGTGACAGTGAGACTCTGTCTGGAAAAAAAAAAAAAAGAATTAATATGCAAAAATGTTTTAAGTCTCACAAATTCACAATAAACAAAAATTCACAATCAAAAGACCAATAATCAACTGGAAAAATAGGCAAAAACCAGGAACAGACAATTCATAATTAGGAAACTTGAAAAGTCCAATAATCTGGAAAAGATCTCAACTTGGGTAATAAGCAGGAAAATGCAAATCCAAACAACAATAAAATACCAAACTTGGCCGGGCACAGTGGTTCACACCTGTAATCCCAGCAGTTTGGAAGGCCAAGGTGGGTGGATCACTTGAGGTCAGGCATTCAAGACCAGCCTGGCCAACATGGTGAAACCCTGTCTCTACTAAAAATACAAAAATTGTCTGGGTATGGTGACAGGCACCTGT
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AACTCCTGAACTCAGGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCTACCGCACCCGGCCCTAAATTGTCTTTATACTATCATTACACTGTATGATTATGTAAATGTTAACAAGACTAGACTGAAACTGAAATGTAGAAAAACTAAAGGCATTAATCAAGTTATGGGTGAGAAGCTAGCTTGAATTTGTTTTCCTATTTTGGCTTCTTTTAATATTACTGCTGTATTTTTTGTGCGTGTAATAGAAGAATTTTTCCAAGTCAGTGGAGTTAGGAAAATTTCCCACCAACAAGTTGGTATGGGACATTGAAGGAGTTTTGATTCAGCTAAATATTTGCCTGAAATTTTGGATCCATTGACCATTGAGAGTGGAGTGACCTAGATAATTCCTTCACTCTGATACAAAAGGGGATTTGGAGTTACCGAGAGATTTGAATACATCTGTCCAAGAACTGACTCTATGCAGGAGACAATCAAGGGAAATGATAGAGGAAAAGATGAAAAGCCCCTTCTCTGTGAGCCTCTGCTCACAGAGGCTGGTTCTACCATCGGCCTCTCCCACTCCCCAGAATTCTGCTTGTCCCCCTGGCTTCATGCCCTCCTCGGGAGATTTATGTAAATCGTGGCATCTTGTGCTGCCCCTGCAGACCTGTCACCTGGGAAGGGCACAGCCCTTTACAATCCTCTCCTGACTGGGGATTTGCAGCAGTAATCTCCATCCACAAGAAAATAAAATCCCAAGAAGTGACCTTCACTTGGACGTCCCTTCCATCTGCAGGGCAGATATAAGCTAGCTATTTGGGCGTCATTAATGTTGTTTTGGGCTTCAAACATGTCCTGCTGCTGGTGCCAATGCCCTGAGTTCAAGTTCCCTTTGGACTTGCCAGCCTCACTGGGAAGAAAAAAAAACCACCCTTAGGAATAACTGAACCCCTAACCTCAGCCAGGTAGGGTCGAGTCAGACAGAAAGAAGAGGTGAGGGAAAGCGGCTGCCTCAAGGCAGGCTGCCCTTTCCCTGAAAAGTCACTCGAGCCCCAGGTTGGTGGGTGTGTTGGGAAGAGCAGCCCGCTGGAGCCAGTGCACAGGCTGTTCCCTCCGACACAGTGGTCGAGAGTCTCTCTCTCACCAGCACCTCCCACAGCCCATCGCAGCATTTTACTTTTACATATGCCAAGAATACTTTAGAAATGCTTTATCACATTGCACTATCATGACTCGCTAAGTAAACACCAGCAAGCATTTAATGAGTACCTGCTGCATGCCAGCTACCAGGCAGGGCTAGGAGGTGACTTCCAAAATTACCTATTCTATTCCAGTGCTCATTTAAAAGATGGGCAAGCCAAAGCGCAGAGTGACTAGTGACCTGCCCAAGGTCACAAGACCTTGAACAACAGAACCAAAACTTCACCCTAGATCTCATGACTTCCCCTTCCTATGCTCTTTCCAACATATCCAGACAAACATCTTGGGAATGGATGCTCAGGGTTGAAAGGTTGGAAAACAAGGGAACTAACTAGGAAATTTAAACTTCTGGGACTGAATCCATCTACTTTGAATGAATGGGACAAATAGCCAAATAGTACCTCAGTGTTTGTGATCTATGAATGACTTCCATCCCTCTGTATAAAGTGGACACACATTGCTGCCTGGCTCTTCATCCCAAGGGGCTCCTATCCAAACAGCTTATATAAATTGATACCTTCCTACCACCTTAGCCAATGTTAGGTTGAACCCTATGAAGTTGTCATTTTTTATGGGTCAAAGAGGTAGAATATTAGCAATTTCATATGGTTCCACCTGATACACCCTCACATACGCAGCAATAAGTTGTGCACCCGATGGAGAGGAAAAGGCACTGGGTGCGGGGAGAGGGGCTGGTCAGAGGCCTGAGCCTCAGTGTCCCCAATATATTCATAGCTCTGACCCCAGGACTGGAAGCCACTCACTCTTTGACTTCTTTGGAGGAAAAGTCCAGGTAGCGATTGCTGATCCACTGAATCTCAAACCAGTCCCGAAAACCGTTGTTGCCGTAGCATTTGAACTCGATCTGCAGCATGTCGATGGTCTTCTTCATGAAACACCTGCCAGGGGTGTCTGTGTCCCGGTAGTACTTCATGCCGTTCTTGAGCCCTTGGCCCAGGGTGTTCTCCAGCGAGCCCCGAAGCAGAAAGCAGCAGAGAGCCACAAGGAAGAGGATGATGTTGAAGAGAACACAGATAGCCAGGTACGGCTTCAGCCAGGGCTTCCATCTGGCATACTTGGCTGGGTCCAGGGCGTCGTAGCAGATCTTCCCAGCCAGCGAGTTGAAGACACAGGATAGCACCCCCATCCCTATCAATGAGTTGGGCACAAAATGGCTCTCAGAATTATTCATCACATCGCTCCTCTTTCGGAGTTCAATCTTCAGGAACAGTCCTAGGCTGAAGATGATGATGCCAGCCAACACGGAGAACCAGTTCATGAGCCAGAGCCCTTGGGCCAACTTGACCCGCTTCTTCTGGTCAAACTTGACTTTCAGTAGCGCCATGCTTGCCAAGTGTAGTCCGGGTTGCTTCCCACAGCACAGCTCCCACCCCAAACCTTAACGAGCCCAGAGGCGGAGACTTAGGGCCTTGGGAAAAGTGCAGATGGCCCAAGCTGTAGGGAGCTGCCCTGGGGGCTACCCATGTCGAGTCCCACTAGCCTGGGATCCCCGTGAATGCAGTAGTGGTGGCAGGGGTCTCGGAATCACAGCTTGAGCAGGGGATAGTCCTGGTCCTGGGCGTTGTTTCTTCAGCGCCCTTCCCAGCCAAGAAGGGGCAGCCTGAACGCTGCAGATTAAAAGTGGGATCCACAAGACATTTTGCTAATCTCTTTAGCCAGGTTCATCCCATTAGATAAAGCCATGCCACTCTCAAAACATGGTCAAAAGCAGCCTCCAGGTACATGCTGAACCAGAAAGCTCTGGGTACAGCTTGGAGAATCAGGAGCAAAGGGCAAGACTGGCCAGAAGAATGGGCTGTATCTGGATGTCTGGCTCAGACCGTGTTGCTCCCCAAAAGCATATTTCCAGGCCAATCTCCTTCAACATTTAAAACTTTCTGTAGGACAAATAAATTGTTATCCTCTCTGAGAAAAGAAATGACAGGGCCAGGCACAGTGGATCACGCCTATAATCCCAGCACTTTGGGAGACCAAGTTGGGTGGATCACTTGAGCCCAGGAGTTCAAGACCAGCCTGGGCTACATAGGAAGACCCCATCTCCACACACACACACACACACACAAAAAAAAAAAAAAAAAAATTAGCTGGGTATGGTGGCATGCACCTGTAGTTCTCCCAGCTACTCTGGAGGCTGAGGTGGCAAGATCACCTGAGCCTGGGGAGTTCAAGGCTGCACTGAGCCATGATCGTGCCACTGCACTCCAGCCTGGGTGACAGAGTGAGGCCCTGTCTCAAATTTTAAAAAGACAAAGAAAAGAAGAGAAGAAGGAAGGAAAGAAAGAAAGTGACAGATCGTGAGAAAACATTTGCAACTTGTAAAATTAAAAAGTAATATACAGTGGCCAGGCATGGTGGCTTATGCCTGTAATCCCAGTACTTTGGGAGGCCAAGGCAGGTGGATCGCTTGAGCCCAGGAGGTGGAGGTTGCACTGAACTGAGATCCCCACATTGCACTCCAGCCTGGGTGACAGTGAGACTCTGTCTGGAAAAAAAAAAAAAAGAATTAATATGCAAAAATGTTTTAAGTCTCACAAATTCACAATAAACAAAAATTCACAATCAAAAGACCAATAATCAACTGGAAAAATAGGCAAAAACCAGGAACAGACAATTCATAATTAGGAAACTTGAAAAGTCCAATAATCTGGAAAAGATCTCAACTTGGGTAATAAGCAGGAAAATGCAAATCCAAACAACAATAAAATACCAAACTTGGCCGGGCACAGTGGTTCACACCTGTAATCCCAGCAGTTTGGAAGGCCAAGGTGGGTGGATCACTTGAGGTCAGGCATTCAAGACCAGCCTGGCCAACATGGTGAAACCCTGTCTCTACTAAAAATACAAAAATTGTCTGGGTATGGTGACAGGCACCTGT
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Task1_train_10321
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This is a variant in PRPH2 (peripherin 2), located on Chromosome 6. Is this mutation a likely cause of disease or not?
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Pathogenic; PRPH2-related disorder
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TCCTGAACTCAGGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCTACCGCACCCGGCCCTAAATTGTCTTTATACTATCATTACACTGTATGATTATGTAAATGTTAACAAGACTAGACTGAAACTGAAATGTAGAAAAACTAAAGGCATTAATCAAGTTATGGGTGAGAAGCTAGCTTGAATTTGTTTTCCTATTTTGGCTTCTTTTAATATTACTGCTGTATTTTTTGTGCGTGTAATAGAAGAATTTTTCCAAGTCAGTGGAGTTAGGAAAATTTCCCACCAACAAGTTGGTATGGGACATTGAAGGAGTTTTGATTCAGCTAAATATTTGCCTGAAATTTTGGATCCATTGACCATTGAGAGTGGAGTGACCTAGATAATTCCTTCACTCTGATACAAAAGGGGATTTGGAGTTACCGAGAGATTTGAATACATCTGTCCAAGAACTGACTCTATGCAGGAGACAATCAAGGGAAATGATAGAGGAAAAGATGAAAAGCCCCTTCTCTGTGAGCCTCTGCTCACAGAGGCTGGTTCTACCATCGGCCTCTCCCACTCCCCAGAATTCTGCTTGTCCCCCTGGCTTCATGCCCTCCTCGGGAGATTTATGTAAATCGTGGCATCTTGTGCTGCCCCTGCAGACCTGTCACCTGGGAAGGGCACAGCCCTTTACAATCCTCTCCTGACTGGGGATTTGCAGCAGTAATCTCCATCCACAAGAAAATAAAATCCCAAGAAGTGACCTTCACTTGGACGTCCCTTCCATCTGCAGGGCAGATATAAGCTAGCTATTTGGGCGTCATTAATGTTGTTTTGGGCTTCAAACATGTCCTGCTGCTGGTGCCAATGCCCTGAGTTCAAGTTCCCTTTGGACTTGCCAGCCTCACTGGGAAGAAAAAAAAACCACCCTTAGGAATAACTGAACCCCTAACCTCAGCCAGGTAGGGTCGAGTCAGACAGAAAGAAGAGGTGAGGGAAAGCGGCTGCCTCAAGGCAGGCTGCCCTTTCCCTGAAAAGTCACTCGAGCCCCAGGTTGGTGGGTGTGTTGGGAAGAGCAGCCCGCTGGAGCCAGTGCACAGGCTGTTCCCTCCGACACAGTGGTCGAGAGTCTCTCTCTCACCAGCACCTCCCACAGCCCATCGCAGCATTTTACTTTTACATATGCCAAGAATACTTTAGAAATGCTTTATCACATTGCACTATCATGACTCGCTAAGTAAACACCAGCAAGCATTTAATGAGTACCTGCTGCATGCCAGCTACCAGGCAGGGCTAGGAGGTGACTTCCAAAATTACCTATTCTATTCCAGTGCTCATTTAAAAGATGGGCAAGCCAAAGCGCAGAGTGACTAGTGACCTGCCCAAGGTCACAAGACCTTGAACAACAGAACCAAAACTTCACCCTAGATCTCATGACTTCCCCTTCCTATGCTCTTTCCAACATATCCAGACAAACATCTTGGGAATGGATGCTCAGGGTTGAAAGGTTGGAAAACAAGGGAACTAACTAGGAAATTTAAACTTCTGGGACTGAATCCATCTACTTTGAATGAATGGGACAAATAGCCAAATAGTACCTCAGTGTTTGTGATCTATGAATGACTTCCATCCCTCTGTATAAAGTGGACACACATTGCTGCCTGGCTCTTCATCCCAAGGGGCTCCTATCCAAACAGCTTATATAAATTGATACCTTCCTACCACCTTAGCCAATGTTAGGTTGAACCCTATGAAGTTGTCATTTTTTATGGGTCAAAGAGGTAGAATATTAGCAATTTCATATGGTTCCACCTGATACACCCTCACATACGCAGCAATAAGTTGTGCACCCGATGGAGAGGAAAAGGCACTGGGTGCGGGGAGAGGGGCTGGTCAGAGGCCTGAGCCTCAGTGTCCCCAATATATTCATAGCTCTGACCCCAGGACTGGAAGCCACTCACTCTTTGACTTCTTTGGAGGAAAAGTCCAGGTAGCGATTGCTGATCCACTGAATCTCAAACCAGTCCCGAAAACCGTTGTTGCCGCAGCATTTGAACTCGATCTGCAGCATGTCGATGGTCTTCTTCATGAAACACCTGCCAGGGGTGTCTGTGTCCCGGTAGTACTTCATGCCGTTCTTGAGCCCTTGGCCCAGGGTGTTCTCCAGCGAGCCCCGAAGCAGAAAGCAGCAGAGAGCCACAAGGAAGAGGATGATGTTGAAGAGAACACAGATAGCCAGGTACGGCTTCAGCCAGGGCTTCCATCTGGCATACTTGGCTGGGTCCAGGGCGTCGTAGCAGATCTTCCCAGCCAGCGAGTTGAAGACACAGGATAGCACCCCCATCCCTATCAATGAGTTGGGCACAAAATGGCTCTCAGAATTATTCATCACATCGCTCCTCTTTCGGAGTTCAATCTTCAGGAACAGTCCTAGGCTGAAGATGATGATGCCAGCCAACACGGAGAACCAGTTCATGAGCCAGAGCCCTTGGGCCAACTTGACCCGCTTCTTCTGGTCAAACTTGACTTTCAGTAGCGCCATGCTTGCCAAGTGTAGTCCGGGTTGCTTCCCACAGCACAGCTCCCACCCCAAACCTTAACGAGCCCAGAGGCGGAGACTTAGGGCCTTGGGAAAAGTGCAGATGGCCCAAGCTGTAGGGAGCTGCCCTGGGGGCTACCCATGTCGAGTCCCACTAGCCTGGGATCCCCGTGAATGCAGTAGTGGTGGCAGGGGTCTCGGAATCACAGCTTGAGCAGGGGATAGTCCTGGTCCTGGGCGTTGTTTCTTCAGCGCCCTTCCCAGCCAAGAAGGGGCAGCCTGAACGCTGCAGATTAAAAGTGGGATCCACAAGACATTTTGCTAATCTCTTTAGCCAGGTTCATCCCATTAGATAAAGCCATGCCACTCTCAAAACATGGTCAAAAGCAGCCTCCAGGTACATGCTGAACCAGAAAGCTCTGGGTACAGCTTGGAGAATCAGGAGCAAAGGGCAAGACTGGCCAGAAGAATGGGCTGTATCTGGATGTCTGGCTCAGACCGTGTTGCTCCCCAAAAGCATATTTCCAGGCCAATCTCCTTCAACATTTAAAACTTTCTGTAGGACAAATAAATTGTTATCCTCTCTGAGAAAAGAAATGACAGGGCCAGGCACAGTGGATCACGCCTATAATCCCAGCACTTTGGGAGACCAAGTTGGGTGGATCACTTGAGCCCAGGAGTTCAAGACCAGCCTGGGCTACATAGGAAGACCCCATCTCCACACACACACACACACACACAAAAAAAAAAAAAAAAAAATTAGCTGGGTATGGTGGCATGCACCTGTAGTTCTCCCAGCTACTCTGGAGGCTGAGGTGGCAAGATCACCTGAGCCTGGGGAGTTCAAGGCTGCACTGAGCCATGATCGTGCCACTGCACTCCAGCCTGGGTGACAGAGTGAGGCCCTGTCTCAAATTTTAAAAAGACAAAGAAAAGAAGAGAAGAAGGAAGGAAAGAAAGAAAGTGACAGATCGTGAGAAAACATTTGCAACTTGTAAAATTAAAAAGTAATATACAGTGGCCAGGCATGGTGGCTTATGCCTGTAATCCCAGTACTTTGGGAGGCCAAGGCAGGTGGATCGCTTGAGCCCAGGAGGTGGAGGTTGCACTGAACTGAGATCCCCACATTGCACTCCAGCCTGGGTGACAGTGAGACTCTGTCTGGAAAAAAAAAAAAAAGAATTAATATGCAAAAATGTTTTAAGTCTCACAAATTCACAATAAACAAAAATTCACAATCAAAAGACCAATAATCAACTGGAAAAATAGGCAAAAACCAGGAACAGACAATTCATAATTAGGAAACTTGAAAAGTCCAATAATCTGGAAAAGATCTCAACTTGGGTAATAAGCAGGAAAATGCAAATCCAAACAACAATAAAATACCAAACTTGGCCGGGCACAGTGGTTCACACCTGTAATCCCAGCAGTTTGGAAGGCCAAGGTGGGTGGATCACTTGAGGTCAGGCATTCAAGACCAGCCTGGCCAACATGGTGAAACCCTGTCTCTACTAAAAATACAAAAATTGTCTGGGTATGGTGACAGGCACCTGTAAT
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TCCTGAACTCAGGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCTACCGCACCCGGCCCTAAATTGTCTTTATACTATCATTACACTGTATGATTATGTAAATGTTAACAAGACTAGACTGAAACTGAAATGTAGAAAAACTAAAGGCATTAATCAAGTTATGGGTGAGAAGCTAGCTTGAATTTGTTTTCCTATTTTGGCTTCTTTTAATATTACTGCTGTATTTTTTGTGCGTGTAATAGAAGAATTTTTCCAAGTCAGTGGAGTTAGGAAAATTTCCCACCAACAAGTTGGTATGGGACATTGAAGGAGTTTTGATTCAGCTAAATATTTGCCTGAAATTTTGGATCCATTGACCATTGAGAGTGGAGTGACCTAGATAATTCCTTCACTCTGATACAAAAGGGGATTTGGAGTTACCGAGAGATTTGAATACATCTGTCCAAGAACTGACTCTATGCAGGAGACAATCAAGGGAAATGATAGAGGAAAAGATGAAAAGCCCCTTCTCTGTGAGCCTCTGCTCACAGAGGCTGGTTCTACCATCGGCCTCTCCCACTCCCCAGAATTCTGCTTGTCCCCCTGGCTTCATGCCCTCCTCGGGAGATTTATGTAAATCGTGGCATCTTGTGCTGCCCCTGCAGACCTGTCACCTGGGAAGGGCACAGCCCTTTACAATCCTCTCCTGACTGGGGATTTGCAGCAGTAATCTCCATCCACAAGAAAATAAAATCCCAAGAAGTGACCTTCACTTGGACGTCCCTTCCATCTGCAGGGCAGATATAAGCTAGCTATTTGGGCGTCATTAATGTTGTTTTGGGCTTCAAACATGTCCTGCTGCTGGTGCCAATGCCCTGAGTTCAAGTTCCCTTTGGACTTGCCAGCCTCACTGGGAAGAAAAAAAAACCACCCTTAGGAATAACTGAACCCCTAACCTCAGCCAGGTAGGGTCGAGTCAGACAGAAAGAAGAGGTGAGGGAAAGCGGCTGCCTCAAGGCAGGCTGCCCTTTCCCTGAAAAGTCACTCGAGCCCCAGGTTGGTGGGTGTGTTGGGAAGAGCAGCCCGCTGGAGCCAGTGCACAGGCTGTTCCCTCCGACACAGTGGTCGAGAGTCTCTCTCTCACCAGCACCTCCCACAGCCCATCGCAGCATTTTACTTTTACATATGCCAAGAATACTTTAGAAATGCTTTATCACATTGCACTATCATGACTCGCTAAGTAAACACCAGCAAGCATTTAATGAGTACCTGCTGCATGCCAGCTACCAGGCAGGGCTAGGAGGTGACTTCCAAAATTACCTATTCTATTCCAGTGCTCATTTAAAAGATGGGCAAGCCAAAGCGCAGAGTGACTAGTGACCTGCCCAAGGTCACAAGACCTTGAACAACAGAACCAAAACTTCACCCTAGATCTCATGACTTCCCCTTCCTATGCTCTTTCCAACATATCCAGACAAACATCTTGGGAATGGATGCTCAGGGTTGAAAGGTTGGAAAACAAGGGAACTAACTAGGAAATTTAAACTTCTGGGACTGAATCCATCTACTTTGAATGAATGGGACAAATAGCCAAATAGTACCTCAGTGTTTGTGATCTATGAATGACTTCCATCCCTCTGTATAAAGTGGACACACATTGCTGCCTGGCTCTTCATCCCAAGGGGCTCCTATCCAAACAGCTTATATAAATTGATACCTTCCTACCACCTTAGCCAATGTTAGGTTGAACCCTATGAAGTTGTCATTTTTTATGGGTCAAAGAGGTAGAATATTAGCAATTTCATATGGTTCCACCTGATACACCCTCACATACGCAGCAATAAGTTGTGCACCCGATGGAGAGGAAAAGGCACTGGGTGCGGGGAGAGGGGCTGGTCAGAGGCCTGAGCCTCAGTGTCCCCAATATATTCATAGCTCTGACCCCAGGACTGGAAGCCACTCACTCTTTGACTTCTTTGGAGGAAAAGTCCAGGTAGCGATTGCTGATCCACTGAATCTCAAACCAGTCCCGAAAACCGTTGTTGCCGCAGTATTTGAACTCGATCTGCAGCATGTCGATGGTCTTCTTCATGAAACACCTGCCAGGGGTGTCTGTGTCCCGGTAGTACTTCATGCCGTTCTTGAGCCCTTGGCCCAGGGTGTTCTCCAGCGAGCCCCGAAGCAGAAAGCAGCAGAGAGCCACAAGGAAGAGGATGATGTTGAAGAGAACACAGATAGCCAGGTACGGCTTCAGCCAGGGCTTCCATCTGGCATACTTGGCTGGGTCCAGGGCGTCGTAGCAGATCTTCCCAGCCAGCGAGTTGAAGACACAGGATAGCACCCCCATCCCTATCAATGAGTTGGGCACAAAATGGCTCTCAGAATTATTCATCACATCGCTCCTCTTTCGGAGTTCAATCTTCAGGAACAGTCCTAGGCTGAAGATGATGATGCCAGCCAACACGGAGAACCAGTTCATGAGCCAGAGCCCTTGGGCCAACTTGACCCGCTTCTTCTGGTCAAACTTGACTTTCAGTAGCGCCATGCTTGCCAAGTGTAGTCCGGGTTGCTTCCCACAGCACAGCTCCCACCCCAAACCTTAACGAGCCCAGAGGCGGAGACTTAGGGCCTTGGGAAAAGTGCAGATGGCCCAAGCTGTAGGGAGCTGCCCTGGGGGCTACCCATGTCGAGTCCCACTAGCCTGGGATCCCCGTGAATGCAGTAGTGGTGGCAGGGGTCTCGGAATCACAGCTTGAGCAGGGGATAGTCCTGGTCCTGGGCGTTGTTTCTTCAGCGCCCTTCCCAGCCAAGAAGGGGCAGCCTGAACGCTGCAGATTAAAAGTGGGATCCACAAGACATTTTGCTAATCTCTTTAGCCAGGTTCATCCCATTAGATAAAGCCATGCCACTCTCAAAACATGGTCAAAAGCAGCCTCCAGGTACATGCTGAACCAGAAAGCTCTGGGTACAGCTTGGAGAATCAGGAGCAAAGGGCAAGACTGGCCAGAAGAATGGGCTGTATCTGGATGTCTGGCTCAGACCGTGTTGCTCCCCAAAAGCATATTTCCAGGCCAATCTCCTTCAACATTTAAAACTTTCTGTAGGACAAATAAATTGTTATCCTCTCTGAGAAAAGAAATGACAGGGCCAGGCACAGTGGATCACGCCTATAATCCCAGCACTTTGGGAGACCAAGTTGGGTGGATCACTTGAGCCCAGGAGTTCAAGACCAGCCTGGGCTACATAGGAAGACCCCATCTCCACACACACACACACACACACAAAAAAAAAAAAAAAAAAATTAGCTGGGTATGGTGGCATGCACCTGTAGTTCTCCCAGCTACTCTGGAGGCTGAGGTGGCAAGATCACCTGAGCCTGGGGAGTTCAAGGCTGCACTGAGCCATGATCGTGCCACTGCACTCCAGCCTGGGTGACAGAGTGAGGCCCTGTCTCAAATTTTAAAAAGACAAAGAAAAGAAGAGAAGAAGGAAGGAAAGAAAGAAAGTGACAGATCGTGAGAAAACATTTGCAACTTGTAAAATTAAAAAGTAATATACAGTGGCCAGGCATGGTGGCTTATGCCTGTAATCCCAGTACTTTGGGAGGCCAAGGCAGGTGGATCGCTTGAGCCCAGGAGGTGGAGGTTGCACTGAACTGAGATCCCCACATTGCACTCCAGCCTGGGTGACAGTGAGACTCTGTCTGGAAAAAAAAAAAAAAGAATTAATATGCAAAAATGTTTTAAGTCTCACAAATTCACAATAAACAAAAATTCACAATCAAAAGACCAATAATCAACTGGAAAAATAGGCAAAAACCAGGAACAGACAATTCATAATTAGGAAACTTGAAAAGTCCAATAATCTGGAAAAGATCTCAACTTGGGTAATAAGCAGGAAAATGCAAATCCAAACAACAATAAAATACCAAACTTGGCCGGGCACAGTGGTTCACACCTGTAATCCCAGCAGTTTGGAAGGCCAAGGTGGGTGGATCACTTGAGGTCAGGCATTCAAGACCAGCCTGGCCAACATGGTGAAACCCTGTCTCTACTAAAAATACAAAAATTGTCTGGGTATGGTGACAGGCACCTGTAAT
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Task1_train_10322
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Consider a variant on Chromosome 6 in gene PRPH2 (peripherin 2). Determine its clinical classification and disease relevance.
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Pathogenic; PRPH2-related disorder
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CCTGAACTCAGGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCTACCGCACCCGGCCCTAAATTGTCTTTATACTATCATTACACTGTATGATTATGTAAATGTTAACAAGACTAGACTGAAACTGAAATGTAGAAAAACTAAAGGCATTAATCAAGTTATGGGTGAGAAGCTAGCTTGAATTTGTTTTCCTATTTTGGCTTCTTTTAATATTACTGCTGTATTTTTTGTGCGTGTAATAGAAGAATTTTTCCAAGTCAGTGGAGTTAGGAAAATTTCCCACCAACAAGTTGGTATGGGACATTGAAGGAGTTTTGATTCAGCTAAATATTTGCCTGAAATTTTGGATCCATTGACCATTGAGAGTGGAGTGACCTAGATAATTCCTTCACTCTGATACAAAAGGGGATTTGGAGTTACCGAGAGATTTGAATACATCTGTCCAAGAACTGACTCTATGCAGGAGACAATCAAGGGAAATGATAGAGGAAAAGATGAAAAGCCCCTTCTCTGTGAGCCTCTGCTCACAGAGGCTGGTTCTACCATCGGCCTCTCCCACTCCCCAGAATTCTGCTTGTCCCCCTGGCTTCATGCCCTCCTCGGGAGATTTATGTAAATCGTGGCATCTTGTGCTGCCCCTGCAGACCTGTCACCTGGGAAGGGCACAGCCCTTTACAATCCTCTCCTGACTGGGGATTTGCAGCAGTAATCTCCATCCACAAGAAAATAAAATCCCAAGAAGTGACCTTCACTTGGACGTCCCTTCCATCTGCAGGGCAGATATAAGCTAGCTATTTGGGCGTCATTAATGTTGTTTTGGGCTTCAAACATGTCCTGCTGCTGGTGCCAATGCCCTGAGTTCAAGTTCCCTTTGGACTTGCCAGCCTCACTGGGAAGAAAAAAAAACCACCCTTAGGAATAACTGAACCCCTAACCTCAGCCAGGTAGGGTCGAGTCAGACAGAAAGAAGAGGTGAGGGAAAGCGGCTGCCTCAAGGCAGGCTGCCCTTTCCCTGAAAAGTCACTCGAGCCCCAGGTTGGTGGGTGTGTTGGGAAGAGCAGCCCGCTGGAGCCAGTGCACAGGCTGTTCCCTCCGACACAGTGGTCGAGAGTCTCTCTCTCACCAGCACCTCCCACAGCCCATCGCAGCATTTTACTTTTACATATGCCAAGAATACTTTAGAAATGCTTTATCACATTGCACTATCATGACTCGCTAAGTAAACACCAGCAAGCATTTAATGAGTACCTGCTGCATGCCAGCTACCAGGCAGGGCTAGGAGGTGACTTCCAAAATTACCTATTCTATTCCAGTGCTCATTTAAAAGATGGGCAAGCCAAAGCGCAGAGTGACTAGTGACCTGCCCAAGGTCACAAGACCTTGAACAACAGAACCAAAACTTCACCCTAGATCTCATGACTTCCCCTTCCTATGCTCTTTCCAACATATCCAGACAAACATCTTGGGAATGGATGCTCAGGGTTGAAAGGTTGGAAAACAAGGGAACTAACTAGGAAATTTAAACTTCTGGGACTGAATCCATCTACTTTGAATGAATGGGACAAATAGCCAAATAGTACCTCAGTGTTTGTGATCTATGAATGACTTCCATCCCTCTGTATAAAGTGGACACACATTGCTGCCTGGCTCTTCATCCCAAGGGGCTCCTATCCAAACAGCTTATATAAATTGATACCTTCCTACCACCTTAGCCAATGTTAGGTTGAACCCTATGAAGTTGTCATTTTTTATGGGTCAAAGAGGTAGAATATTAGCAATTTCATATGGTTCCACCTGATACACCCTCACATACGCAGCAATAAGTTGTGCACCCGATGGAGAGGAAAAGGCACTGGGTGCGGGGAGAGGGGCTGGTCAGAGGCCTGAGCCTCAGTGTCCCCAATATATTCATAGCTCTGACCCCAGGACTGGAAGCCACTCACTCTTTGACTTCTTTGGAGGAAAAGTCCAGGTAGCGATTGCTGATCCACTGAATCTCAAACCAGTCCCGAAAACCGTTGTTGCCGCAGCATTTGAACTCGATCTGCAGCATGTCGATGGTCTTCTTCATGAAACACCTGCCAGGGGTGTCTGTGTCCCGGTAGTACTTCATGCCGTTCTTGAGCCCTTGGCCCAGGGTGTTCTCCAGCGAGCCCCGAAGCAGAAAGCAGCAGAGAGCCACAAGGAAGAGGATGATGTTGAAGAGAACACAGATAGCCAGGTACGGCTTCAGCCAGGGCTTCCATCTGGCATACTTGGCTGGGTCCAGGGCGTCGTAGCAGATCTTCCCAGCCAGCGAGTTGAAGACACAGGATAGCACCCCCATCCCTATCAATGAGTTGGGCACAAAATGGCTCTCAGAATTATTCATCACATCGCTCCTCTTTCGGAGTTCAATCTTCAGGAACAGTCCTAGGCTGAAGATGATGATGCCAGCCAACACGGAGAACCAGTTCATGAGCCAGAGCCCTTGGGCCAACTTGACCCGCTTCTTCTGGTCAAACTTGACTTTCAGTAGCGCCATGCTTGCCAAGTGTAGTCCGGGTTGCTTCCCACAGCACAGCTCCCACCCCAAACCTTAACGAGCCCAGAGGCGGAGACTTAGGGCCTTGGGAAAAGTGCAGATGGCCCAAGCTGTAGGGAGCTGCCCTGGGGGCTACCCATGTCGAGTCCCACTAGCCTGGGATCCCCGTGAATGCAGTAGTGGTGGCAGGGGTCTCGGAATCACAGCTTGAGCAGGGGATAGTCCTGGTCCTGGGCGTTGTTTCTTCAGCGCCCTTCCCAGCCAAGAAGGGGCAGCCTGAACGCTGCAGATTAAAAGTGGGATCCACAAGACATTTTGCTAATCTCTTTAGCCAGGTTCATCCCATTAGATAAAGCCATGCCACTCTCAAAACATGGTCAAAAGCAGCCTCCAGGTACATGCTGAACCAGAAAGCTCTGGGTACAGCTTGGAGAATCAGGAGCAAAGGGCAAGACTGGCCAGAAGAATGGGCTGTATCTGGATGTCTGGCTCAGACCGTGTTGCTCCCCAAAAGCATATTTCCAGGCCAATCTCCTTCAACATTTAAAACTTTCTGTAGGACAAATAAATTGTTATCCTCTCTGAGAAAAGAAATGACAGGGCCAGGCACAGTGGATCACGCCTATAATCCCAGCACTTTGGGAGACCAAGTTGGGTGGATCACTTGAGCCCAGGAGTTCAAGACCAGCCTGGGCTACATAGGAAGACCCCATCTCCACACACACACACACACACACAAAAAAAAAAAAAAAAAAATTAGCTGGGTATGGTGGCATGCACCTGTAGTTCTCCCAGCTACTCTGGAGGCTGAGGTGGCAAGATCACCTGAGCCTGGGGAGTTCAAGGCTGCACTGAGCCATGATCGTGCCACTGCACTCCAGCCTGGGTGACAGAGTGAGGCCCTGTCTCAAATTTTAAAAAGACAAAGAAAAGAAGAGAAGAAGGAAGGAAAGAAAGAAAGTGACAGATCGTGAGAAAACATTTGCAACTTGTAAAATTAAAAAGTAATATACAGTGGCCAGGCATGGTGGCTTATGCCTGTAATCCCAGTACTTTGGGAGGCCAAGGCAGGTGGATCGCTTGAGCCCAGGAGGTGGAGGTTGCACTGAACTGAGATCCCCACATTGCACTCCAGCCTGGGTGACAGTGAGACTCTGTCTGGAAAAAAAAAAAAAAGAATTAATATGCAAAAATGTTTTAAGTCTCACAAATTCACAATAAACAAAAATTCACAATCAAAAGACCAATAATCAACTGGAAAAATAGGCAAAAACCAGGAACAGACAATTCATAATTAGGAAACTTGAAAAGTCCAATAATCTGGAAAAGATCTCAACTTGGGTAATAAGCAGGAAAATGCAAATCCAAACAACAATAAAATACCAAACTTGGCCGGGCACAGTGGTTCACACCTGTAATCCCAGCAGTTTGGAAGGCCAAGGTGGGTGGATCACTTGAGGTCAGGCATTCAAGACCAGCCTGGCCAACATGGTGAAACCCTGTCTCTACTAAAAATACAAAAATTGTCTGGGTATGGTGACAGGCACCTGTAATC
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CCTGAACTCAGGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCTACCGCACCCGGCCCTAAATTGTCTTTATACTATCATTACACTGTATGATTATGTAAATGTTAACAAGACTAGACTGAAACTGAAATGTAGAAAAACTAAAGGCATTAATCAAGTTATGGGTGAGAAGCTAGCTTGAATTTGTTTTCCTATTTTGGCTTCTTTTAATATTACTGCTGTATTTTTTGTGCGTGTAATAGAAGAATTTTTCCAAGTCAGTGGAGTTAGGAAAATTTCCCACCAACAAGTTGGTATGGGACATTGAAGGAGTTTTGATTCAGCTAAATATTTGCCTGAAATTTTGGATCCATTGACCATTGAGAGTGGAGTGACCTAGATAATTCCTTCACTCTGATACAAAAGGGGATTTGGAGTTACCGAGAGATTTGAATACATCTGTCCAAGAACTGACTCTATGCAGGAGACAATCAAGGGAAATGATAGAGGAAAAGATGAAAAGCCCCTTCTCTGTGAGCCTCTGCTCACAGAGGCTGGTTCTACCATCGGCCTCTCCCACTCCCCAGAATTCTGCTTGTCCCCCTGGCTTCATGCCCTCCTCGGGAGATTTATGTAAATCGTGGCATCTTGTGCTGCCCCTGCAGACCTGTCACCTGGGAAGGGCACAGCCCTTTACAATCCTCTCCTGACTGGGGATTTGCAGCAGTAATCTCCATCCACAAGAAAATAAAATCCCAAGAAGTGACCTTCACTTGGACGTCCCTTCCATCTGCAGGGCAGATATAAGCTAGCTATTTGGGCGTCATTAATGTTGTTTTGGGCTTCAAACATGTCCTGCTGCTGGTGCCAATGCCCTGAGTTCAAGTTCCCTTTGGACTTGCCAGCCTCACTGGGAAGAAAAAAAAACCACCCTTAGGAATAACTGAACCCCTAACCTCAGCCAGGTAGGGTCGAGTCAGACAGAAAGAAGAGGTGAGGGAAAGCGGCTGCCTCAAGGCAGGCTGCCCTTTCCCTGAAAAGTCACTCGAGCCCCAGGTTGGTGGGTGTGTTGGGAAGAGCAGCCCGCTGGAGCCAGTGCACAGGCTGTTCCCTCCGACACAGTGGTCGAGAGTCTCTCTCTCACCAGCACCTCCCACAGCCCATCGCAGCATTTTACTTTTACATATGCCAAGAATACTTTAGAAATGCTTTATCACATTGCACTATCATGACTCGCTAAGTAAACACCAGCAAGCATTTAATGAGTACCTGCTGCATGCCAGCTACCAGGCAGGGCTAGGAGGTGACTTCCAAAATTACCTATTCTATTCCAGTGCTCATTTAAAAGATGGGCAAGCCAAAGCGCAGAGTGACTAGTGACCTGCCCAAGGTCACAAGACCTTGAACAACAGAACCAAAACTTCACCCTAGATCTCATGACTTCCCCTTCCTATGCTCTTTCCAACATATCCAGACAAACATCTTGGGAATGGATGCTCAGGGTTGAAAGGTTGGAAAACAAGGGAACTAACTAGGAAATTTAAACTTCTGGGACTGAATCCATCTACTTTGAATGAATGGGACAAATAGCCAAATAGTACCTCAGTGTTTGTGATCTATGAATGACTTCCATCCCTCTGTATAAAGTGGACACACATTGCTGCCTGGCTCTTCATCCCAAGGGGCTCCTATCCAAACAGCTTATATAAATTGATACCTTCCTACCACCTTAGCCAATGTTAGGTTGAACCCTATGAAGTTGTCATTTTTTATGGGTCAAAGAGGTAGAATATTAGCAATTTCATATGGTTCCACCTGATACACCCTCACATACGCAGCAATAAGTTGTGCACCCGATGGAGAGGAAAAGGCACTGGGTGCGGGGAGAGGGGCTGGTCAGAGGCCTGAGCCTCAGTGTCCCCAATATATTCATAGCTCTGACCCCAGGACTGGAAGCCACTCACTCTTTGACTTCTTTGGAGGAAAAGTCCAGGTAGCGATTGCTGATCCACTGAATCTCAAACCAGTCCCGAAAACCGTTGTTGCCGCAGCGTTTGAACTCGATCTGCAGCATGTCGATGGTCTTCTTCATGAAACACCTGCCAGGGGTGTCTGTGTCCCGGTAGTACTTCATGCCGTTCTTGAGCCCTTGGCCCAGGGTGTTCTCCAGCGAGCCCCGAAGCAGAAAGCAGCAGAGAGCCACAAGGAAGAGGATGATGTTGAAGAGAACACAGATAGCCAGGTACGGCTTCAGCCAGGGCTTCCATCTGGCATACTTGGCTGGGTCCAGGGCGTCGTAGCAGATCTTCCCAGCCAGCGAGTTGAAGACACAGGATAGCACCCCCATCCCTATCAATGAGTTGGGCACAAAATGGCTCTCAGAATTATTCATCACATCGCTCCTCTTTCGGAGTTCAATCTTCAGGAACAGTCCTAGGCTGAAGATGATGATGCCAGCCAACACGGAGAACCAGTTCATGAGCCAGAGCCCTTGGGCCAACTTGACCCGCTTCTTCTGGTCAAACTTGACTTTCAGTAGCGCCATGCTTGCCAAGTGTAGTCCGGGTTGCTTCCCACAGCACAGCTCCCACCCCAAACCTTAACGAGCCCAGAGGCGGAGACTTAGGGCCTTGGGAAAAGTGCAGATGGCCCAAGCTGTAGGGAGCTGCCCTGGGGGCTACCCATGTCGAGTCCCACTAGCCTGGGATCCCCGTGAATGCAGTAGTGGTGGCAGGGGTCTCGGAATCACAGCTTGAGCAGGGGATAGTCCTGGTCCTGGGCGTTGTTTCTTCAGCGCCCTTCCCAGCCAAGAAGGGGCAGCCTGAACGCTGCAGATTAAAAGTGGGATCCACAAGACATTTTGCTAATCTCTTTAGCCAGGTTCATCCCATTAGATAAAGCCATGCCACTCTCAAAACATGGTCAAAAGCAGCCTCCAGGTACATGCTGAACCAGAAAGCTCTGGGTACAGCTTGGAGAATCAGGAGCAAAGGGCAAGACTGGCCAGAAGAATGGGCTGTATCTGGATGTCTGGCTCAGACCGTGTTGCTCCCCAAAAGCATATTTCCAGGCCAATCTCCTTCAACATTTAAAACTTTCTGTAGGACAAATAAATTGTTATCCTCTCTGAGAAAAGAAATGACAGGGCCAGGCACAGTGGATCACGCCTATAATCCCAGCACTTTGGGAGACCAAGTTGGGTGGATCACTTGAGCCCAGGAGTTCAAGACCAGCCTGGGCTACATAGGAAGACCCCATCTCCACACACACACACACACACACAAAAAAAAAAAAAAAAAAATTAGCTGGGTATGGTGGCATGCACCTGTAGTTCTCCCAGCTACTCTGGAGGCTGAGGTGGCAAGATCACCTGAGCCTGGGGAGTTCAAGGCTGCACTGAGCCATGATCGTGCCACTGCACTCCAGCCTGGGTGACAGAGTGAGGCCCTGTCTCAAATTTTAAAAAGACAAAGAAAAGAAGAGAAGAAGGAAGGAAAGAAAGAAAGTGACAGATCGTGAGAAAACATTTGCAACTTGTAAAATTAAAAAGTAATATACAGTGGCCAGGCATGGTGGCTTATGCCTGTAATCCCAGTACTTTGGGAGGCCAAGGCAGGTGGATCGCTTGAGCCCAGGAGGTGGAGGTTGCACTGAACTGAGATCCCCACATTGCACTCCAGCCTGGGTGACAGTGAGACTCTGTCTGGAAAAAAAAAAAAAAGAATTAATATGCAAAAATGTTTTAAGTCTCACAAATTCACAATAAACAAAAATTCACAATCAAAAGACCAATAATCAACTGGAAAAATAGGCAAAAACCAGGAACAGACAATTCATAATTAGGAAACTTGAAAAGTCCAATAATCTGGAAAAGATCTCAACTTGGGTAATAAGCAGGAAAATGCAAATCCAAACAACAATAAAATACCAAACTTGGCCGGGCACAGTGGTTCACACCTGTAATCCCAGCAGTTTGGAAGGCCAAGGTGGGTGGATCACTTGAGGTCAGGCATTCAAGACCAGCCTGGCCAACATGGTGAAACCCTGTCTCTACTAAAAATACAAAAATTGTCTGGGTATGGTGACAGGCACCTGTAATC
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Task1_train_10323
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The gene PRPH2 (peripherin 2) on Chromosome 6 contains a mutation. Based on this information, is the variant pathogenic or benign? Provide the disease if relevant.
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Pathogenic; Retinal dystrophy
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GCCCTAAATTGTCTTTATACTATCATTACACTGTATGATTATGTAAATGTTAACAAGACTAGACTGAAACTGAAATGTAGAAAAACTAAAGGCATTAATCAAGTTATGGGTGAGAAGCTAGCTTGAATTTGTTTTCCTATTTTGGCTTCTTTTAATATTACTGCTGTATTTTTTGTGCGTGTAATAGAAGAATTTTTCCAAGTCAGTGGAGTTAGGAAAATTTCCCACCAACAAGTTGGTATGGGACATTGAAGGAGTTTTGATTCAGCTAAATATTTGCCTGAAATTTTGGATCCATTGACCATTGAGAGTGGAGTGACCTAGATAATTCCTTCACTCTGATACAAAAGGGGATTTGGAGTTACCGAGAGATTTGAATACATCTGTCCAAGAACTGACTCTATGCAGGAGACAATCAAGGGAAATGATAGAGGAAAAGATGAAAAGCCCCTTCTCTGTGAGCCTCTGCTCACAGAGGCTGGTTCTACCATCGGCCTCTCCCACTCCCCAGAATTCTGCTTGTCCCCCTGGCTTCATGCCCTCCTCGGGAGATTTATGTAAATCGTGGCATCTTGTGCTGCCCCTGCAGACCTGTCACCTGGGAAGGGCACAGCCCTTTACAATCCTCTCCTGACTGGGGATTTGCAGCAGTAATCTCCATCCACAAGAAAATAAAATCCCAAGAAGTGACCTTCACTTGGACGTCCCTTCCATCTGCAGGGCAGATATAAGCTAGCTATTTGGGCGTCATTAATGTTGTTTTGGGCTTCAAACATGTCCTGCTGCTGGTGCCAATGCCCTGAGTTCAAGTTCCCTTTGGACTTGCCAGCCTCACTGGGAAGAAAAAAAAACCACCCTTAGGAATAACTGAACCCCTAACCTCAGCCAGGTAGGGTCGAGTCAGACAGAAAGAAGAGGTGAGGGAAAGCGGCTGCCTCAAGGCAGGCTGCCCTTTCCCTGAAAAGTCACTCGAGCCCCAGGTTGGTGGGTGTGTTGGGAAGAGCAGCCCGCTGGAGCCAGTGCACAGGCTGTTCCCTCCGACACAGTGGTCGAGAGTCTCTCTCTCACCAGCACCTCCCACAGCCCATCGCAGCATTTTACTTTTACATATGCCAAGAATACTTTAGAAATGCTTTATCACATTGCACTATCATGACTCGCTAAGTAAACACCAGCAAGCATTTAATGAGTACCTGCTGCATGCCAGCTACCAGGCAGGGCTAGGAGGTGACTTCCAAAATTACCTATTCTATTCCAGTGCTCATTTAAAAGATGGGCAAGCCAAAGCGCAGAGTGACTAGTGACCTGCCCAAGGTCACAAGACCTTGAACAACAGAACCAAAACTTCACCCTAGATCTCATGACTTCCCCTTCCTATGCTCTTTCCAACATATCCAGACAAACATCTTGGGAATGGATGCTCAGGGTTGAAAGGTTGGAAAACAAGGGAACTAACTAGGAAATTTAAACTTCTGGGACTGAATCCATCTACTTTGAATGAATGGGACAAATAGCCAAATAGTACCTCAGTGTTTGTGATCTATGAATGACTTCCATCCCTCTGTATAAAGTGGACACACATTGCTGCCTGGCTCTTCATCCCAAGGGGCTCCTATCCAAACAGCTTATATAAATTGATACCTTCCTACCACCTTAGCCAATGTTAGGTTGAACCCTATGAAGTTGTCATTTTTTATGGGTCAAAGAGGTAGAATATTAGCAATTTCATATGGTTCCACCTGATACACCCTCACATACGCAGCAATAAGTTGTGCACCCGATGGAGAGGAAAAGGCACTGGGTGCGGGGAGAGGGGCTGGTCAGAGGCCTGAGCCTCAGTGTCCCCAATATATTCATAGCTCTGACCCCAGGACTGGAAGCCACTCACTCTTTGACTTCTTTGGAGGAAAAGTCCAGGTAGCGATTGCTGATCCACTGAATCTCAAACCAGTCCCGAAAACCGTTGTTGCCGCAGCATTTGAACTCGATCTGCAGCATGTCGATGGTCTTCTTCATGAAACACCTGCCAGGGGTGTCTGTGTCCCGGTAGTACTTCATGCCGTTCTTGAGCCCTTGGCCCAGGGTGTTCTCCAGCGAGCCCCGAAGCAGAAAGCAGCAGAGAGCCACAAGGAAGAGGATGATGTTGAAGAGAACACAGATAGCCAGGTACGGCTTCAGCCAGGGCTTCCATCTGGCATACTTGGCTGGGTCCAGGGCGTCGTAGCAGATCTTCCCAGCCAGCGAGTTGAAGACACAGGATAGCACCCCCATCCCTATCAATGAGTTGGGCACAAAATGGCTCTCAGAATTATTCATCACATCGCTCCTCTTTCGGAGTTCAATCTTCAGGAACAGTCCTAGGCTGAAGATGATGATGCCAGCCAACACGGAGAACCAGTTCATGAGCCAGAGCCCTTGGGCCAACTTGACCCGCTTCTTCTGGTCAAACTTGACTTTCAGTAGCGCCATGCTTGCCAAGTGTAGTCCGGGTTGCTTCCCACAGCACAGCTCCCACCCCAAACCTTAACGAGCCCAGAGGCGGAGACTTAGGGCCTTGGGAAAAGTGCAGATGGCCCAAGCTGTAGGGAGCTGCCCTGGGGGCTACCCATGTCGAGTCCCACTAGCCTGGGATCCCCGTGAATGCAGTAGTGGTGGCAGGGGTCTCGGAATCACAGCTTGAGCAGGGGATAGTCCTGGTCCTGGGCGTTGTTTCTTCAGCGCCCTTCCCAGCCAAGAAGGGGCAGCCTGAACGCTGCAGATTAAAAGTGGGATCCACAAGACATTTTGCTAATCTCTTTAGCCAGGTTCATCCCATTAGATAAAGCCATGCCACTCTCAAAACATGGTCAAAAGCAGCCTCCAGGTACATGCTGAACCAGAAAGCTCTGGGTACAGCTTGGAGAATCAGGAGCAAAGGGCAAGACTGGCCAGAAGAATGGGCTGTATCTGGATGTCTGGCTCAGACCGTGTTGCTCCCCAAAAGCATATTTCCAGGCCAATCTCCTTCAACATTTAAAACTTTCTGTAGGACAAATAAATTGTTATCCTCTCTGAGAAAAGAAATGACAGGGCCAGGCACAGTGGATCACGCCTATAATCCCAGCACTTTGGGAGACCAAGTTGGGTGGATCACTTGAGCCCAGGAGTTCAAGACCAGCCTGGGCTACATAGGAAGACCCCATCTCCACACACACACACACACACACAAAAAAAAAAAAAAAAAAATTAGCTGGGTATGGTGGCATGCACCTGTAGTTCTCCCAGCTACTCTGGAGGCTGAGGTGGCAAGATCACCTGAGCCTGGGGAGTTCAAGGCTGCACTGAGCCATGATCGTGCCACTGCACTCCAGCCTGGGTGACAGAGTGAGGCCCTGTCTCAAATTTTAAAAAGACAAAGAAAAGAAGAGAAGAAGGAAGGAAAGAAAGAAAGTGACAGATCGTGAGAAAACATTTGCAACTTGTAAAATTAAAAAGTAATATACAGTGGCCAGGCATGGTGGCTTATGCCTGTAATCCCAGTACTTTGGGAGGCCAAGGCAGGTGGATCGCTTGAGCCCAGGAGGTGGAGGTTGCACTGAACTGAGATCCCCACATTGCACTCCAGCCTGGGTGACAGTGAGACTCTGTCTGGAAAAAAAAAAAAAAGAATTAATATGCAAAAATGTTTTAAGTCTCACAAATTCACAATAAACAAAAATTCACAATCAAAAGACCAATAATCAACTGGAAAAATAGGCAAAAACCAGGAACAGACAATTCATAATTAGGAAACTTGAAAAGTCCAATAATCTGGAAAAGATCTCAACTTGGGTAATAAGCAGGAAAATGCAAATCCAAACAACAATAAAATACCAAACTTGGCCGGGCACAGTGGTTCACACCTGTAATCCCAGCAGTTTGGAAGGCCAAGGTGGGTGGATCACTTGAGGTCAGGCATTCAAGACCAGCCTGGCCAACATGGTGAAACCCTGTCTCTACTAAAAATACAAAAATTGTCTGGGTATGGTGACAGGCACCTGTAATCCCAGTTACTTGTGAGGCTGAGGAAGGAGCATCAATTGAACCCGGGAAGTGGAGGTTGCAGTGAGCCAAGATT
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GCCCTAAATTGTCTTTATACTATCATTACACTGTATGATTATGTAAATGTTAACAAGACTAGACTGAAACTGAAATGTAGAAAAACTAAAGGCATTAATCAAGTTATGGGTGAGAAGCTAGCTTGAATTTGTTTTCCTATTTTGGCTTCTTTTAATATTACTGCTGTATTTTTTGTGCGTGTAATAGAAGAATTTTTCCAAGTCAGTGGAGTTAGGAAAATTTCCCACCAACAAGTTGGTATGGGACATTGAAGGAGTTTTGATTCAGCTAAATATTTGCCTGAAATTTTGGATCCATTGACCATTGAGAGTGGAGTGACCTAGATAATTCCTTCACTCTGATACAAAAGGGGATTTGGAGTTACCGAGAGATTTGAATACATCTGTCCAAGAACTGACTCTATGCAGGAGACAATCAAGGGAAATGATAGAGGAAAAGATGAAAAGCCCCTTCTCTGTGAGCCTCTGCTCACAGAGGCTGGTTCTACCATCGGCCTCTCCCACTCCCCAGAATTCTGCTTGTCCCCCTGGCTTCATGCCCTCCTCGGGAGATTTATGTAAATCGTGGCATCTTGTGCTGCCCCTGCAGACCTGTCACCTGGGAAGGGCACAGCCCTTTACAATCCTCTCCTGACTGGGGATTTGCAGCAGTAATCTCCATCCACAAGAAAATAAAATCCCAAGAAGTGACCTTCACTTGGACGTCCCTTCCATCTGCAGGGCAGATATAAGCTAGCTATTTGGGCGTCATTAATGTTGTTTTGGGCTTCAAACATGTCCTGCTGCTGGTGCCAATGCCCTGAGTTCAAGTTCCCTTTGGACTTGCCAGCCTCACTGGGAAGAAAAAAAAACCACCCTTAGGAATAACTGAACCCCTAACCTCAGCCAGGTAGGGTCGAGTCAGACAGAAAGAAGAGGTGAGGGAAAGCGGCTGCCTCAAGGCAGGCTGCCCTTTCCCTGAAAAGTCACTCGAGCCCCAGGTTGGTGGGTGTGTTGGGAAGAGCAGCCCGCTGGAGCCAGTGCACAGGCTGTTCCCTCCGACACAGTGGTCGAGAGTCTCTCTCTCACCAGCACCTCCCACAGCCCATCGCAGCATTTTACTTTTACATATGCCAAGAATACTTTAGAAATGCTTTATCACATTGCACTATCATGACTCGCTAAGTAAACACCAGCAAGCATTTAATGAGTACCTGCTGCATGCCAGCTACCAGGCAGGGCTAGGAGGTGACTTCCAAAATTACCTATTCTATTCCAGTGCTCATTTAAAAGATGGGCAAGCCAAAGCGCAGAGTGACTAGTGACCTGCCCAAGGTCACAAGACCTTGAACAACAGAACCAAAACTTCACCCTAGATCTCATGACTTCCCCTTCCTATGCTCTTTCCAACATATCCAGACAAACATCTTGGGAATGGATGCTCAGGGTTGAAAGGTTGGAAAACAAGGGAACTAACTAGGAAATTTAAACTTCTGGGACTGAATCCATCTACTTTGAATGAATGGGACAAATAGCCAAATAGTACCTCAGTGTTTGTGATCTATGAATGACTTCCATCCCTCTGTATAAAGTGGACACACATTGCTGCCTGGCTCTTCATCCCAAGGGGCTCCTATCCAAACAGCTTATATAAATTGATACCTTCCTACCACCTTAGCCAATGTTAGGTTGAACCCTATGAAGTTGTCATTTTTTATGGGTCAAAGAGGTAGAATATTAGCAATTTCATATGGTTCCACCTGATACACCCTCACATACGCAGCAATAAGTTGTGCACCCGATGGAGAGGAAAAGGCACTGGGTGCGGGGAGAGGGGCTGGTCAGAGGCCTGAGCCTCAGTGTCCCCAATATATTCATAGCTCTGACCCCAGGACTGGAAGCCACTCACTCTTTGACTTCTTTGGAGGAAAAGTCCAGGTAGCGATTGCTGATCCACTGAATCTCAAACCAGTCCCGAAAACCGTTGTTGCCGCAGCATTTGAACTCGATCTGCAGCATGTCGATGGTCTTCTTCATGAAACACCTGCCAGGGGTGTCTGTGTCCCGGTGGTACTTCATGCCGTTCTTGAGCCCTTGGCCCAGGGTGTTCTCCAGCGAGCCCCGAAGCAGAAAGCAGCAGAGAGCCACAAGGAAGAGGATGATGTTGAAGAGAACACAGATAGCCAGGTACGGCTTCAGCCAGGGCTTCCATCTGGCATACTTGGCTGGGTCCAGGGCGTCGTAGCAGATCTTCCCAGCCAGCGAGTTGAAGACACAGGATAGCACCCCCATCCCTATCAATGAGTTGGGCACAAAATGGCTCTCAGAATTATTCATCACATCGCTCCTCTTTCGGAGTTCAATCTTCAGGAACAGTCCTAGGCTGAAGATGATGATGCCAGCCAACACGGAGAACCAGTTCATGAGCCAGAGCCCTTGGGCCAACTTGACCCGCTTCTTCTGGTCAAACTTGACTTTCAGTAGCGCCATGCTTGCCAAGTGTAGTCCGGGTTGCTTCCCACAGCACAGCTCCCACCCCAAACCTTAACGAGCCCAGAGGCGGAGACTTAGGGCCTTGGGAAAAGTGCAGATGGCCCAAGCTGTAGGGAGCTGCCCTGGGGGCTACCCATGTCGAGTCCCACTAGCCTGGGATCCCCGTGAATGCAGTAGTGGTGGCAGGGGTCTCGGAATCACAGCTTGAGCAGGGGATAGTCCTGGTCCTGGGCGTTGTTTCTTCAGCGCCCTTCCCAGCCAAGAAGGGGCAGCCTGAACGCTGCAGATTAAAAGTGGGATCCACAAGACATTTTGCTAATCTCTTTAGCCAGGTTCATCCCATTAGATAAAGCCATGCCACTCTCAAAACATGGTCAAAAGCAGCCTCCAGGTACATGCTGAACCAGAAAGCTCTGGGTACAGCTTGGAGAATCAGGAGCAAAGGGCAAGACTGGCCAGAAGAATGGGCTGTATCTGGATGTCTGGCTCAGACCGTGTTGCTCCCCAAAAGCATATTTCCAGGCCAATCTCCTTCAACATTTAAAACTTTCTGTAGGACAAATAAATTGTTATCCTCTCTGAGAAAAGAAATGACAGGGCCAGGCACAGTGGATCACGCCTATAATCCCAGCACTTTGGGAGACCAAGTTGGGTGGATCACTTGAGCCCAGGAGTTCAAGACCAGCCTGGGCTACATAGGAAGACCCCATCTCCACACACACACACACACACACAAAAAAAAAAAAAAAAAAATTAGCTGGGTATGGTGGCATGCACCTGTAGTTCTCCCAGCTACTCTGGAGGCTGAGGTGGCAAGATCACCTGAGCCTGGGGAGTTCAAGGCTGCACTGAGCCATGATCGTGCCACTGCACTCCAGCCTGGGTGACAGAGTGAGGCCCTGTCTCAAATTTTAAAAAGACAAAGAAAAGAAGAGAAGAAGGAAGGAAAGAAAGAAAGTGACAGATCGTGAGAAAACATTTGCAACTTGTAAAATTAAAAAGTAATATACAGTGGCCAGGCATGGTGGCTTATGCCTGTAATCCCAGTACTTTGGGAGGCCAAGGCAGGTGGATCGCTTGAGCCCAGGAGGTGGAGGTTGCACTGAACTGAGATCCCCACATTGCACTCCAGCCTGGGTGACAGTGAGACTCTGTCTGGAAAAAAAAAAAAAAGAATTAATATGCAAAAATGTTTTAAGTCTCACAAATTCACAATAAACAAAAATTCACAATCAAAAGACCAATAATCAACTGGAAAAATAGGCAAAAACCAGGAACAGACAATTCATAATTAGGAAACTTGAAAAGTCCAATAATCTGGAAAAGATCTCAACTTGGGTAATAAGCAGGAAAATGCAAATCCAAACAACAATAAAATACCAAACTTGGCCGGGCACAGTGGTTCACACCTGTAATCCCAGCAGTTTGGAAGGCCAAGGTGGGTGGATCACTTGAGGTCAGGCATTCAAGACCAGCCTGGCCAACATGGTGAAACCCTGTCTCTACTAAAAATACAAAAATTGTCTGGGTATGGTGACAGGCACCTGTAATCCCAGTTACTTGTGAGGCTGAGGAAGGAGCATCAATTGAACCCGGGAAGTGGAGGTTGCAGTGAGCCAAGATT
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Task1_train_10324
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Here is a mutation in PRPH2 (peripherin 2) on Chromosome 6. Determine whether it’s benign or pathogenic. If the latter, what disease does it cause?
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Pathogenic; PRPH2-related disorder
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GCCCTAAATTGTCTTTATACTATCATTACACTGTATGATTATGTAAATGTTAACAAGACTAGACTGAAACTGAAATGTAGAAAAACTAAAGGCATTAATCAAGTTATGGGTGAGAAGCTAGCTTGAATTTGTTTTCCTATTTTGGCTTCTTTTAATATTACTGCTGTATTTTTTGTGCGTGTAATAGAAGAATTTTTCCAAGTCAGTGGAGTTAGGAAAATTTCCCACCAACAAGTTGGTATGGGACATTGAAGGAGTTTTGATTCAGCTAAATATTTGCCTGAAATTTTGGATCCATTGACCATTGAGAGTGGAGTGACCTAGATAATTCCTTCACTCTGATACAAAAGGGGATTTGGAGTTACCGAGAGATTTGAATACATCTGTCCAAGAACTGACTCTATGCAGGAGACAATCAAGGGAAATGATAGAGGAAAAGATGAAAAGCCCCTTCTCTGTGAGCCTCTGCTCACAGAGGCTGGTTCTACCATCGGCCTCTCCCACTCCCCAGAATTCTGCTTGTCCCCCTGGCTTCATGCCCTCCTCGGGAGATTTATGTAAATCGTGGCATCTTGTGCTGCCCCTGCAGACCTGTCACCTGGGAAGGGCACAGCCCTTTACAATCCTCTCCTGACTGGGGATTTGCAGCAGTAATCTCCATCCACAAGAAAATAAAATCCCAAGAAGTGACCTTCACTTGGACGTCCCTTCCATCTGCAGGGCAGATATAAGCTAGCTATTTGGGCGTCATTAATGTTGTTTTGGGCTTCAAACATGTCCTGCTGCTGGTGCCAATGCCCTGAGTTCAAGTTCCCTTTGGACTTGCCAGCCTCACTGGGAAGAAAAAAAAACCACCCTTAGGAATAACTGAACCCCTAACCTCAGCCAGGTAGGGTCGAGTCAGACAGAAAGAAGAGGTGAGGGAAAGCGGCTGCCTCAAGGCAGGCTGCCCTTTCCCTGAAAAGTCACTCGAGCCCCAGGTTGGTGGGTGTGTTGGGAAGAGCAGCCCGCTGGAGCCAGTGCACAGGCTGTTCCCTCCGACACAGTGGTCGAGAGTCTCTCTCTCACCAGCACCTCCCACAGCCCATCGCAGCATTTTACTTTTACATATGCCAAGAATACTTTAGAAATGCTTTATCACATTGCACTATCATGACTCGCTAAGTAAACACCAGCAAGCATTTAATGAGTACCTGCTGCATGCCAGCTACCAGGCAGGGCTAGGAGGTGACTTCCAAAATTACCTATTCTATTCCAGTGCTCATTTAAAAGATGGGCAAGCCAAAGCGCAGAGTGACTAGTGACCTGCCCAAGGTCACAAGACCTTGAACAACAGAACCAAAACTTCACCCTAGATCTCATGACTTCCCCTTCCTATGCTCTTTCCAACATATCCAGACAAACATCTTGGGAATGGATGCTCAGGGTTGAAAGGTTGGAAAACAAGGGAACTAACTAGGAAATTTAAACTTCTGGGACTGAATCCATCTACTTTGAATGAATGGGACAAATAGCCAAATAGTACCTCAGTGTTTGTGATCTATGAATGACTTCCATCCCTCTGTATAAAGTGGACACACATTGCTGCCTGGCTCTTCATCCCAAGGGGCTCCTATCCAAACAGCTTATATAAATTGATACCTTCCTACCACCTTAGCCAATGTTAGGTTGAACCCTATGAAGTTGTCATTTTTTATGGGTCAAAGAGGTAGAATATTAGCAATTTCATATGGTTCCACCTGATACACCCTCACATACGCAGCAATAAGTTGTGCACCCGATGGAGAGGAAAAGGCACTGGGTGCGGGGAGAGGGGCTGGTCAGAGGCCTGAGCCTCAGTGTCCCCAATATATTCATAGCTCTGACCCCAGGACTGGAAGCCACTCACTCTTTGACTTCTTTGGAGGAAAAGTCCAGGTAGCGATTGCTGATCCACTGAATCTCAAACCAGTCCCGAAAACCGTTGTTGCCGCAGCATTTGAACTCGATCTGCAGCATGTCGATGGTCTTCTTCATGAAACACCTGCCAGGGGTGTCTGTGTCCCGGTAGTACTTCATGCCGTTCTTGAGCCCTTGGCCCAGGGTGTTCTCCAGCGAGCCCCGAAGCAGAAAGCAGCAGAGAGCCACAAGGAAGAGGATGATGTTGAAGAGAACACAGATAGCCAGGTACGGCTTCAGCCAGGGCTTCCATCTGGCATACTTGGCTGGGTCCAGGGCGTCGTAGCAGATCTTCCCAGCCAGCGAGTTGAAGACACAGGATAGCACCCCCATCCCTATCAATGAGTTGGGCACAAAATGGCTCTCAGAATTATTCATCACATCGCTCCTCTTTCGGAGTTCAATCTTCAGGAACAGTCCTAGGCTGAAGATGATGATGCCAGCCAACACGGAGAACCAGTTCATGAGCCAGAGCCCTTGGGCCAACTTGACCCGCTTCTTCTGGTCAAACTTGACTTTCAGTAGCGCCATGCTTGCCAAGTGTAGTCCGGGTTGCTTCCCACAGCACAGCTCCCACCCCAAACCTTAACGAGCCCAGAGGCGGAGACTTAGGGCCTTGGGAAAAGTGCAGATGGCCCAAGCTGTAGGGAGCTGCCCTGGGGGCTACCCATGTCGAGTCCCACTAGCCTGGGATCCCCGTGAATGCAGTAGTGGTGGCAGGGGTCTCGGAATCACAGCTTGAGCAGGGGATAGTCCTGGTCCTGGGCGTTGTTTCTTCAGCGCCCTTCCCAGCCAAGAAGGGGCAGCCTGAACGCTGCAGATTAAAAGTGGGATCCACAAGACATTTTGCTAATCTCTTTAGCCAGGTTCATCCCATTAGATAAAGCCATGCCACTCTCAAAACATGGTCAAAAGCAGCCTCCAGGTACATGCTGAACCAGAAAGCTCTGGGTACAGCTTGGAGAATCAGGAGCAAAGGGCAAGACTGGCCAGAAGAATGGGCTGTATCTGGATGTCTGGCTCAGACCGTGTTGCTCCCCAAAAGCATATTTCCAGGCCAATCTCCTTCAACATTTAAAACTTTCTGTAGGACAAATAAATTGTTATCCTCTCTGAGAAAAGAAATGACAGGGCCAGGCACAGTGGATCACGCCTATAATCCCAGCACTTTGGGAGACCAAGTTGGGTGGATCACTTGAGCCCAGGAGTTCAAGACCAGCCTGGGCTACATAGGAAGACCCCATCTCCACACACACACACACACACACAAAAAAAAAAAAAAAAAAATTAGCTGGGTATGGTGGCATGCACCTGTAGTTCTCCCAGCTACTCTGGAGGCTGAGGTGGCAAGATCACCTGAGCCTGGGGAGTTCAAGGCTGCACTGAGCCATGATCGTGCCACTGCACTCCAGCCTGGGTGACAGAGTGAGGCCCTGTCTCAAATTTTAAAAAGACAAAGAAAAGAAGAGAAGAAGGAAGGAAAGAAAGAAAGTGACAGATCGTGAGAAAACATTTGCAACTTGTAAAATTAAAAAGTAATATACAGTGGCCAGGCATGGTGGCTTATGCCTGTAATCCCAGTACTTTGGGAGGCCAAGGCAGGTGGATCGCTTGAGCCCAGGAGGTGGAGGTTGCACTGAACTGAGATCCCCACATTGCACTCCAGCCTGGGTGACAGTGAGACTCTGTCTGGAAAAAAAAAAAAAAGAATTAATATGCAAAAATGTTTTAAGTCTCACAAATTCACAATAAACAAAAATTCACAATCAAAAGACCAATAATCAACTGGAAAAATAGGCAAAAACCAGGAACAGACAATTCATAATTAGGAAACTTGAAAAGTCCAATAATCTGGAAAAGATCTCAACTTGGGTAATAAGCAGGAAAATGCAAATCCAAACAACAATAAAATACCAAACTTGGCCGGGCACAGTGGTTCACACCTGTAATCCCAGCAGTTTGGAAGGCCAAGGTGGGTGGATCACTTGAGGTCAGGCATTCAAGACCAGCCTGGCCAACATGGTGAAACCCTGTCTCTACTAAAAATACAAAAATTGTCTGGGTATGGTGACAGGCACCTGTAATCCCAGTTACTTGTGAGGCTGAGGAAGGAGCATCAATTGAACCCGGGAAGTGGAGGTTGCAGTGAGCCAAGATT
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GCCCTAAATTGTCTTTATACTATCATTACACTGTATGATTATGTAAATGTTAACAAGACTAGACTGAAACTGAAATGTAGAAAAACTAAAGGCATTAATCAAGTTATGGGTGAGAAGCTAGCTTGAATTTGTTTTCCTATTTTGGCTTCTTTTAATATTACTGCTGTATTTTTTGTGCGTGTAATAGAAGAATTTTTCCAAGTCAGTGGAGTTAGGAAAATTTCCCACCAACAAGTTGGTATGGGACATTGAAGGAGTTTTGATTCAGCTAAATATTTGCCTGAAATTTTGGATCCATTGACCATTGAGAGTGGAGTGACCTAGATAATTCCTTCACTCTGATACAAAAGGGGATTTGGAGTTACCGAGAGATTTGAATACATCTGTCCAAGAACTGACTCTATGCAGGAGACAATCAAGGGAAATGATAGAGGAAAAGATGAAAAGCCCCTTCTCTGTGAGCCTCTGCTCACAGAGGCTGGTTCTACCATCGGCCTCTCCCACTCCCCAGAATTCTGCTTGTCCCCCTGGCTTCATGCCCTCCTCGGGAGATTTATGTAAATCGTGGCATCTTGTGCTGCCCCTGCAGACCTGTCACCTGGGAAGGGCACAGCCCTTTACAATCCTCTCCTGACTGGGGATTTGCAGCAGTAATCTCCATCCACAAGAAAATAAAATCCCAAGAAGTGACCTTCACTTGGACGTCCCTTCCATCTGCAGGGCAGATATAAGCTAGCTATTTGGGCGTCATTAATGTTGTTTTGGGCTTCAAACATGTCCTGCTGCTGGTGCCAATGCCCTGAGTTCAAGTTCCCTTTGGACTTGCCAGCCTCACTGGGAAGAAAAAAAAACCACCCTTAGGAATAACTGAACCCCTAACCTCAGCCAGGTAGGGTCGAGTCAGACAGAAAGAAGAGGTGAGGGAAAGCGGCTGCCTCAAGGCAGGCTGCCCTTTCCCTGAAAAGTCACTCGAGCCCCAGGTTGGTGGGTGTGTTGGGAAGAGCAGCCCGCTGGAGCCAGTGCACAGGCTGTTCCCTCCGACACAGTGGTCGAGAGTCTCTCTCTCACCAGCACCTCCCACAGCCCATCGCAGCATTTTACTTTTACATATGCCAAGAATACTTTAGAAATGCTTTATCACATTGCACTATCATGACTCGCTAAGTAAACACCAGCAAGCATTTAATGAGTACCTGCTGCATGCCAGCTACCAGGCAGGGCTAGGAGGTGACTTCCAAAATTACCTATTCTATTCCAGTGCTCATTTAAAAGATGGGCAAGCCAAAGCGCAGAGTGACTAGTGACCTGCCCAAGGTCACAAGACCTTGAACAACAGAACCAAAACTTCACCCTAGATCTCATGACTTCCCCTTCCTATGCTCTTTCCAACATATCCAGACAAACATCTTGGGAATGGATGCTCAGGGTTGAAAGGTTGGAAAACAAGGGAACTAACTAGGAAATTTAAACTTCTGGGACTGAATCCATCTACTTTGAATGAATGGGACAAATAGCCAAATAGTACCTCAGTGTTTGTGATCTATGAATGACTTCCATCCCTCTGTATAAAGTGGACACACATTGCTGCCTGGCTCTTCATCCCAAGGGGCTCCTATCCAAACAGCTTATATAAATTGATACCTTCCTACCACCTTAGCCAATGTTAGGTTGAACCCTATGAAGTTGTCATTTTTTATGGGTCAAAGAGGTAGAATATTAGCAATTTCATATGGTTCCACCTGATACACCCTCACATACGCAGCAATAAGTTGTGCACCCGATGGAGAGGAAAAGGCACTGGGTGCGGGGAGAGGGGCTGGTCAGAGGCCTGAGCCTCAGTGTCCCCAATATATTCATAGCTCTGACCCCAGGACTGGAAGCCACTCACTCTTTGACTTCTTTGGAGGAAAAGTCCAGGTAGCGATTGCTGATCCACTGAATCTCAAACCAGTCCCGAAAACCGTTGTTGCCGCAGCATTTGAACTCGATCTGCAGCATGTCGATGGTCTTCTTCATGAAACACCTGCCAGGGGTGTCTGTGTCCCGGTGGTACTTCATGCCGTTCTTGAGCCCTTGGCCCAGGGTGTTCTCCAGCGAGCCCCGAAGCAGAAAGCAGCAGAGAGCCACAAGGAAGAGGATGATGTTGAAGAGAACACAGATAGCCAGGTACGGCTTCAGCCAGGGCTTCCATCTGGCATACTTGGCTGGGTCCAGGGCGTCGTAGCAGATCTTCCCAGCCAGCGAGTTGAAGACACAGGATAGCACCCCCATCCCTATCAATGAGTTGGGCACAAAATGGCTCTCAGAATTATTCATCACATCGCTCCTCTTTCGGAGTTCAATCTTCAGGAACAGTCCTAGGCTGAAGATGATGATGCCAGCCAACACGGAGAACCAGTTCATGAGCCAGAGCCCTTGGGCCAACTTGACCCGCTTCTTCTGGTCAAACTTGACTTTCAGTAGCGCCATGCTTGCCAAGTGTAGTCCGGGTTGCTTCCCACAGCACAGCTCCCACCCCAAACCTTAACGAGCCCAGAGGCGGAGACTTAGGGCCTTGGGAAAAGTGCAGATGGCCCAAGCTGTAGGGAGCTGCCCTGGGGGCTACCCATGTCGAGTCCCACTAGCCTGGGATCCCCGTGAATGCAGTAGTGGTGGCAGGGGTCTCGGAATCACAGCTTGAGCAGGGGATAGTCCTGGTCCTGGGCGTTGTTTCTTCAGCGCCCTTCCCAGCCAAGAAGGGGCAGCCTGAACGCTGCAGATTAAAAGTGGGATCCACAAGACATTTTGCTAATCTCTTTAGCCAGGTTCATCCCATTAGATAAAGCCATGCCACTCTCAAAACATGGTCAAAAGCAGCCTCCAGGTACATGCTGAACCAGAAAGCTCTGGGTACAGCTTGGAGAATCAGGAGCAAAGGGCAAGACTGGCCAGAAGAATGGGCTGTATCTGGATGTCTGGCTCAGACCGTGTTGCTCCCCAAAAGCATATTTCCAGGCCAATCTCCTTCAACATTTAAAACTTTCTGTAGGACAAATAAATTGTTATCCTCTCTGAGAAAAGAAATGACAGGGCCAGGCACAGTGGATCACGCCTATAATCCCAGCACTTTGGGAGACCAAGTTGGGTGGATCACTTGAGCCCAGGAGTTCAAGACCAGCCTGGGCTACATAGGAAGACCCCATCTCCACACACACACACACACACACAAAAAAAAAAAAAAAAAAATTAGCTGGGTATGGTGGCATGCACCTGTAGTTCTCCCAGCTACTCTGGAGGCTGAGGTGGCAAGATCACCTGAGCCTGGGGAGTTCAAGGCTGCACTGAGCCATGATCGTGCCACTGCACTCCAGCCTGGGTGACAGAGTGAGGCCCTGTCTCAAATTTTAAAAAGACAAAGAAAAGAAGAGAAGAAGGAAGGAAAGAAAGAAAGTGACAGATCGTGAGAAAACATTTGCAACTTGTAAAATTAAAAAGTAATATACAGTGGCCAGGCATGGTGGCTTATGCCTGTAATCCCAGTACTTTGGGAGGCCAAGGCAGGTGGATCGCTTGAGCCCAGGAGGTGGAGGTTGCACTGAACTGAGATCCCCACATTGCACTCCAGCCTGGGTGACAGTGAGACTCTGTCTGGAAAAAAAAAAAAAAGAATTAATATGCAAAAATGTTTTAAGTCTCACAAATTCACAATAAACAAAAATTCACAATCAAAAGACCAATAATCAACTGGAAAAATAGGCAAAAACCAGGAACAGACAATTCATAATTAGGAAACTTGAAAAGTCCAATAATCTGGAAAAGATCTCAACTTGGGTAATAAGCAGGAAAATGCAAATCCAAACAACAATAAAATACCAAACTTGGCCGGGCACAGTGGTTCACACCTGTAATCCCAGCAGTTTGGAAGGCCAAGGTGGGTGGATCACTTGAGGTCAGGCATTCAAGACCAGCCTGGCCAACATGGTGAAACCCTGTCTCTACTAAAAATACAAAAATTGTCTGGGTATGGTGACAGGCACCTGTAATCCCAGTTACTTGTGAGGCTGAGGAAGGAGCATCAATTGAACCCGGGAAGTGGAGGTTGCAGTGAGCCAAGATT
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Task1_train_10325
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A variant was discovered on Chromosome 6, affecting PRPH2 (peripherin 2). What is its functional impact — neutral or pathogenic? State the disease if pathogenic.
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Pathogenic; PRPH2-related disorder
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AAATGTTAACAAGACTAGACTGAAACTGAAATGTAGAAAAACTAAAGGCATTAATCAAGTTATGGGTGAGAAGCTAGCTTGAATTTGTTTTCCTATTTTGGCTTCTTTTAATATTACTGCTGTATTTTTTGTGCGTGTAATAGAAGAATTTTTCCAAGTCAGTGGAGTTAGGAAAATTTCCCACCAACAAGTTGGTATGGGACATTGAAGGAGTTTTGATTCAGCTAAATATTTGCCTGAAATTTTGGATCCATTGACCATTGAGAGTGGAGTGACCTAGATAATTCCTTCACTCTGATACAAAAGGGGATTTGGAGTTACCGAGAGATTTGAATACATCTGTCCAAGAACTGACTCTATGCAGGAGACAATCAAGGGAAATGATAGAGGAAAAGATGAAAAGCCCCTTCTCTGTGAGCCTCTGCTCACAGAGGCTGGTTCTACCATCGGCCTCTCCCACTCCCCAGAATTCTGCTTGTCCCCCTGGCTTCATGCCCTCCTCGGGAGATTTATGTAAATCGTGGCATCTTGTGCTGCCCCTGCAGACCTGTCACCTGGGAAGGGCACAGCCCTTTACAATCCTCTCCTGACTGGGGATTTGCAGCAGTAATCTCCATCCACAAGAAAATAAAATCCCAAGAAGTGACCTTCACTTGGACGTCCCTTCCATCTGCAGGGCAGATATAAGCTAGCTATTTGGGCGTCATTAATGTTGTTTTGGGCTTCAAACATGTCCTGCTGCTGGTGCCAATGCCCTGAGTTCAAGTTCCCTTTGGACTTGCCAGCCTCACTGGGAAGAAAAAAAAACCACCCTTAGGAATAACTGAACCCCTAACCTCAGCCAGGTAGGGTCGAGTCAGACAGAAAGAAGAGGTGAGGGAAAGCGGCTGCCTCAAGGCAGGCTGCCCTTTCCCTGAAAAGTCACTCGAGCCCCAGGTTGGTGGGTGTGTTGGGAAGAGCAGCCCGCTGGAGCCAGTGCACAGGCTGTTCCCTCCGACACAGTGGTCGAGAGTCTCTCTCTCACCAGCACCTCCCACAGCCCATCGCAGCATTTTACTTTTACATATGCCAAGAATACTTTAGAAATGCTTTATCACATTGCACTATCATGACTCGCTAAGTAAACACCAGCAAGCATTTAATGAGTACCTGCTGCATGCCAGCTACCAGGCAGGGCTAGGAGGTGACTTCCAAAATTACCTATTCTATTCCAGTGCTCATTTAAAAGATGGGCAAGCCAAAGCGCAGAGTGACTAGTGACCTGCCCAAGGTCACAAGACCTTGAACAACAGAACCAAAACTTCACCCTAGATCTCATGACTTCCCCTTCCTATGCTCTTTCCAACATATCCAGACAAACATCTTGGGAATGGATGCTCAGGGTTGAAAGGTTGGAAAACAAGGGAACTAACTAGGAAATTTAAACTTCTGGGACTGAATCCATCTACTTTGAATGAATGGGACAAATAGCCAAATAGTACCTCAGTGTTTGTGATCTATGAATGACTTCCATCCCTCTGTATAAAGTGGACACACATTGCTGCCTGGCTCTTCATCCCAAGGGGCTCCTATCCAAACAGCTTATATAAATTGATACCTTCCTACCACCTTAGCCAATGTTAGGTTGAACCCTATGAAGTTGTCATTTTTTATGGGTCAAAGAGGTAGAATATTAGCAATTTCATATGGTTCCACCTGATACACCCTCACATACGCAGCAATAAGTTGTGCACCCGATGGAGAGGAAAAGGCACTGGGTGCGGGGAGAGGGGCTGGTCAGAGGCCTGAGCCTCAGTGTCCCCAATATATTCATAGCTCTGACCCCAGGACTGGAAGCCACTCACTCTTTGACTTCTTTGGAGGAAAAGTCCAGGTAGCGATTGCTGATCCACTGAATCTCAAACCAGTCCCGAAAACCGTTGTTGCCGCAGCATTTGAACTCGATCTGCAGCATGTCGATGGTCTTCTTCATGAAACACCTGCCAGGGGTGTCTGTGTCCCGGTAGTACTTCATGCCGTTCTTGAGCCCTTGGCCCAGGGTGTTCTCCAGCGAGCCCCGAAGCAGAAAGCAGCAGAGAGCCACAAGGAAGAGGATGATGTTGAAGAGAACACAGATAGCCAGGTACGGCTTCAGCCAGGGCTTCCATCTGGCATACTTGGCTGGGTCCAGGGCGTCGTAGCAGATCTTCCCAGCCAGCGAGTTGAAGACACAGGATAGCACCCCCATCCCTATCAATGAGTTGGGCACAAAATGGCTCTCAGAATTATTCATCACATCGCTCCTCTTTCGGAGTTCAATCTTCAGGAACAGTCCTAGGCTGAAGATGATGATGCCAGCCAACACGGAGAACCAGTTCATGAGCCAGAGCCCTTGGGCCAACTTGACCCGCTTCTTCTGGTCAAACTTGACTTTCAGTAGCGCCATGCTTGCCAAGTGTAGTCCGGGTTGCTTCCCACAGCACAGCTCCCACCCCAAACCTTAACGAGCCCAGAGGCGGAGACTTAGGGCCTTGGGAAAAGTGCAGATGGCCCAAGCTGTAGGGAGCTGCCCTGGGGGCTACCCATGTCGAGTCCCACTAGCCTGGGATCCCCGTGAATGCAGTAGTGGTGGCAGGGGTCTCGGAATCACAGCTTGAGCAGGGGATAGTCCTGGTCCTGGGCGTTGTTTCTTCAGCGCCCTTCCCAGCCAAGAAGGGGCAGCCTGAACGCTGCAGATTAAAAGTGGGATCCACAAGACATTTTGCTAATCTCTTTAGCCAGGTTCATCCCATTAGATAAAGCCATGCCACTCTCAAAACATGGTCAAAAGCAGCCTCCAGGTACATGCTGAACCAGAAAGCTCTGGGTACAGCTTGGAGAATCAGGAGCAAAGGGCAAGACTGGCCAGAAGAATGGGCTGTATCTGGATGTCTGGCTCAGACCGTGTTGCTCCCCAAAAGCATATTTCCAGGCCAATCTCCTTCAACATTTAAAACTTTCTGTAGGACAAATAAATTGTTATCCTCTCTGAGAAAAGAAATGACAGGGCCAGGCACAGTGGATCACGCCTATAATCCCAGCACTTTGGGAGACCAAGTTGGGTGGATCACTTGAGCCCAGGAGTTCAAGACCAGCCTGGGCTACATAGGAAGACCCCATCTCCACACACACACACACACACACAAAAAAAAAAAAAAAAAAATTAGCTGGGTATGGTGGCATGCACCTGTAGTTCTCCCAGCTACTCTGGAGGCTGAGGTGGCAAGATCACCTGAGCCTGGGGAGTTCAAGGCTGCACTGAGCCATGATCGTGCCACTGCACTCCAGCCTGGGTGACAGAGTGAGGCCCTGTCTCAAATTTTAAAAAGACAAAGAAAAGAAGAGAAGAAGGAAGGAAAGAAAGAAAGTGACAGATCGTGAGAAAACATTTGCAACTTGTAAAATTAAAAAGTAATATACAGTGGCCAGGCATGGTGGCTTATGCCTGTAATCCCAGTACTTTGGGAGGCCAAGGCAGGTGGATCGCTTGAGCCCAGGAGGTGGAGGTTGCACTGAACTGAGATCCCCACATTGCACTCCAGCCTGGGTGACAGTGAGACTCTGTCTGGAAAAAAAAAAAAAAGAATTAATATGCAAAAATGTTTTAAGTCTCACAAATTCACAATAAACAAAAATTCACAATCAAAAGACCAATAATCAACTGGAAAAATAGGCAAAAACCAGGAACAGACAATTCATAATTAGGAAACTTGAAAAGTCCAATAATCTGGAAAAGATCTCAACTTGGGTAATAAGCAGGAAAATGCAAATCCAAACAACAATAAAATACCAAACTTGGCCGGGCACAGTGGTTCACACCTGTAATCCCAGCAGTTTGGAAGGCCAAGGTGGGTGGATCACTTGAGGTCAGGCATTCAAGACCAGCCTGGCCAACATGGTGAAACCCTGTCTCTACTAAAAATACAAAAATTGTCTGGGTATGGTGACAGGCACCTGTAATCCCAGTTACTTGTGAGGCTGAGGAAGGAGCATCAATTGAACCCGGGAAGTGGAGGTTGCAGTGAGCCAAGATTGCGCCATTGCACTCCAGCCTGGGTGACAAGAGTGAAATGACGTC
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AAATGTTAACAAGACTAGACTGAAACTGAAATGTAGAAAAACTAAAGGCATTAATCAAGTTATGGGTGAGAAGCTAGCTTGAATTTGTTTTCCTATTTTGGCTTCTTTTAATATTACTGCTGTATTTTTTGTGCGTGTAATAGAAGAATTTTTCCAAGTCAGTGGAGTTAGGAAAATTTCCCACCAACAAGTTGGTATGGGACATTGAAGGAGTTTTGATTCAGCTAAATATTTGCCTGAAATTTTGGATCCATTGACCATTGAGAGTGGAGTGACCTAGATAATTCCTTCACTCTGATACAAAAGGGGATTTGGAGTTACCGAGAGATTTGAATACATCTGTCCAAGAACTGACTCTATGCAGGAGACAATCAAGGGAAATGATAGAGGAAAAGATGAAAAGCCCCTTCTCTGTGAGCCTCTGCTCACAGAGGCTGGTTCTACCATCGGCCTCTCCCACTCCCCAGAATTCTGCTTGTCCCCCTGGCTTCATGCCCTCCTCGGGAGATTTATGTAAATCGTGGCATCTTGTGCTGCCCCTGCAGACCTGTCACCTGGGAAGGGCACAGCCCTTTACAATCCTCTCCTGACTGGGGATTTGCAGCAGTAATCTCCATCCACAAGAAAATAAAATCCCAAGAAGTGACCTTCACTTGGACGTCCCTTCCATCTGCAGGGCAGATATAAGCTAGCTATTTGGGCGTCATTAATGTTGTTTTGGGCTTCAAACATGTCCTGCTGCTGGTGCCAATGCCCTGAGTTCAAGTTCCCTTTGGACTTGCCAGCCTCACTGGGAAGAAAAAAAAACCACCCTTAGGAATAACTGAACCCCTAACCTCAGCCAGGTAGGGTCGAGTCAGACAGAAAGAAGAGGTGAGGGAAAGCGGCTGCCTCAAGGCAGGCTGCCCTTTCCCTGAAAAGTCACTCGAGCCCCAGGTTGGTGGGTGTGTTGGGAAGAGCAGCCCGCTGGAGCCAGTGCACAGGCTGTTCCCTCCGACACAGTGGTCGAGAGTCTCTCTCTCACCAGCACCTCCCACAGCCCATCGCAGCATTTTACTTTTACATATGCCAAGAATACTTTAGAAATGCTTTATCACATTGCACTATCATGACTCGCTAAGTAAACACCAGCAAGCATTTAATGAGTACCTGCTGCATGCCAGCTACCAGGCAGGGCTAGGAGGTGACTTCCAAAATTACCTATTCTATTCCAGTGCTCATTTAAAAGATGGGCAAGCCAAAGCGCAGAGTGACTAGTGACCTGCCCAAGGTCACAAGACCTTGAACAACAGAACCAAAACTTCACCCTAGATCTCATGACTTCCCCTTCCTATGCTCTTTCCAACATATCCAGACAAACATCTTGGGAATGGATGCTCAGGGTTGAAAGGTTGGAAAACAAGGGAACTAACTAGGAAATTTAAACTTCTGGGACTGAATCCATCTACTTTGAATGAATGGGACAAATAGCCAAATAGTACCTCAGTGTTTGTGATCTATGAATGACTTCCATCCCTCTGTATAAAGTGGACACACATTGCTGCCTGGCTCTTCATCCCAAGGGGCTCCTATCCAAACAGCTTATATAAATTGATACCTTCCTACCACCTTAGCCAATGTTAGGTTGAACCCTATGAAGTTGTCATTTTTTATGGGTCAAAGAGGTAGAATATTAGCAATTTCATATGGTTCCACCTGATACACCCTCACATACGCAGCAATAAGTTGTGCACCCGATGGAGAGGAAAAGGCACTGGGTGCGGGGAGAGGGGCTGGTCAGAGGCCTGAGCCTCAGTGTCCCCAATATATTCATAGCTCTGACCCCAGGACTGGAAGCCACTCACTCTTTGACTTCTTTGGAGGAAAAGTCCAGGTAGCGATTGCTGATCCACTGAATCTCAAACCAGTCCCGAAAACCGTTGTTGCCGCAGCATTTGAACTCGATCTGCAGCATGTCGATGGTCTTCTTCATGAAACACCTGCCAGGGGTGTCTGTGTCCCGGTAGTACTTCATGCCGTTCTTGAGCCCTTGGCCCAGGGTGTTCTCCGGCGAGCCCCGAAGCAGAAAGCAGCAGAGAGCCACAAGGAAGAGGATGATGTTGAAGAGAACACAGATAGCCAGGTACGGCTTCAGCCAGGGCTTCCATCTGGCATACTTGGCTGGGTCCAGGGCGTCGTAGCAGATCTTCCCAGCCAGCGAGTTGAAGACACAGGATAGCACCCCCATCCCTATCAATGAGTTGGGCACAAAATGGCTCTCAGAATTATTCATCACATCGCTCCTCTTTCGGAGTTCAATCTTCAGGAACAGTCCTAGGCTGAAGATGATGATGCCAGCCAACACGGAGAACCAGTTCATGAGCCAGAGCCCTTGGGCCAACTTGACCCGCTTCTTCTGGTCAAACTTGACTTTCAGTAGCGCCATGCTTGCCAAGTGTAGTCCGGGTTGCTTCCCACAGCACAGCTCCCACCCCAAACCTTAACGAGCCCAGAGGCGGAGACTTAGGGCCTTGGGAAAAGTGCAGATGGCCCAAGCTGTAGGGAGCTGCCCTGGGGGCTACCCATGTCGAGTCCCACTAGCCTGGGATCCCCGTGAATGCAGTAGTGGTGGCAGGGGTCTCGGAATCACAGCTTGAGCAGGGGATAGTCCTGGTCCTGGGCGTTGTTTCTTCAGCGCCCTTCCCAGCCAAGAAGGGGCAGCCTGAACGCTGCAGATTAAAAGTGGGATCCACAAGACATTTTGCTAATCTCTTTAGCCAGGTTCATCCCATTAGATAAAGCCATGCCACTCTCAAAACATGGTCAAAAGCAGCCTCCAGGTACATGCTGAACCAGAAAGCTCTGGGTACAGCTTGGAGAATCAGGAGCAAAGGGCAAGACTGGCCAGAAGAATGGGCTGTATCTGGATGTCTGGCTCAGACCGTGTTGCTCCCCAAAAGCATATTTCCAGGCCAATCTCCTTCAACATTTAAAACTTTCTGTAGGACAAATAAATTGTTATCCTCTCTGAGAAAAGAAATGACAGGGCCAGGCACAGTGGATCACGCCTATAATCCCAGCACTTTGGGAGACCAAGTTGGGTGGATCACTTGAGCCCAGGAGTTCAAGACCAGCCTGGGCTACATAGGAAGACCCCATCTCCACACACACACACACACACACAAAAAAAAAAAAAAAAAAATTAGCTGGGTATGGTGGCATGCACCTGTAGTTCTCCCAGCTACTCTGGAGGCTGAGGTGGCAAGATCACCTGAGCCTGGGGAGTTCAAGGCTGCACTGAGCCATGATCGTGCCACTGCACTCCAGCCTGGGTGACAGAGTGAGGCCCTGTCTCAAATTTTAAAAAGACAAAGAAAAGAAGAGAAGAAGGAAGGAAAGAAAGAAAGTGACAGATCGTGAGAAAACATTTGCAACTTGTAAAATTAAAAAGTAATATACAGTGGCCAGGCATGGTGGCTTATGCCTGTAATCCCAGTACTTTGGGAGGCCAAGGCAGGTGGATCGCTTGAGCCCAGGAGGTGGAGGTTGCACTGAACTGAGATCCCCACATTGCACTCCAGCCTGGGTGACAGTGAGACTCTGTCTGGAAAAAAAAAAAAAAGAATTAATATGCAAAAATGTTTTAAGTCTCACAAATTCACAATAAACAAAAATTCACAATCAAAAGACCAATAATCAACTGGAAAAATAGGCAAAAACCAGGAACAGACAATTCATAATTAGGAAACTTGAAAAGTCCAATAATCTGGAAAAGATCTCAACTTGGGTAATAAGCAGGAAAATGCAAATCCAAACAACAATAAAATACCAAACTTGGCCGGGCACAGTGGTTCACACCTGTAATCCCAGCAGTTTGGAAGGCCAAGGTGGGTGGATCACTTGAGGTCAGGCATTCAAGACCAGCCTGGCCAACATGGTGAAACCCTGTCTCTACTAAAAATACAAAAATTGTCTGGGTATGGTGACAGGCACCTGTAATCCCAGTTACTTGTGAGGCTGAGGAAGGAGCATCAATTGAACCCGGGAAGTGGAGGTTGCAGTGAGCCAAGATTGCGCCATTGCACTCCAGCCTGGGTGACAAGAGTGAAATGACGTC
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Task1_train_10326
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This mutation occurs in PRPH2 (peripherin 2) on Chromosome 6. Does this change lead to a known medical condition, or is it benign?
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Pathogenic; PRPH2-related disorder
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ATTTCCCACCAACAAGTTGGTATGGGACATTGAAGGAGTTTTGATTCAGCTAAATATTTGCCTGAAATTTTGGATCCATTGACCATTGAGAGTGGAGTGACCTAGATAATTCCTTCACTCTGATACAAAAGGGGATTTGGAGTTACCGAGAGATTTGAATACATCTGTCCAAGAACTGACTCTATGCAGGAGACAATCAAGGGAAATGATAGAGGAAAAGATGAAAAGCCCCTTCTCTGTGAGCCTCTGCTCACAGAGGCTGGTTCTACCATCGGCCTCTCCCACTCCCCAGAATTCTGCTTGTCCCCCTGGCTTCATGCCCTCCTCGGGAGATTTATGTAAATCGTGGCATCTTGTGCTGCCCCTGCAGACCTGTCACCTGGGAAGGGCACAGCCCTTTACAATCCTCTCCTGACTGGGGATTTGCAGCAGTAATCTCCATCCACAAGAAAATAAAATCCCAAGAAGTGACCTTCACTTGGACGTCCCTTCCATCTGCAGGGCAGATATAAGCTAGCTATTTGGGCGTCATTAATGTTGTTTTGGGCTTCAAACATGTCCTGCTGCTGGTGCCAATGCCCTGAGTTCAAGTTCCCTTTGGACTTGCCAGCCTCACTGGGAAGAAAAAAAAACCACCCTTAGGAATAACTGAACCCCTAACCTCAGCCAGGTAGGGTCGAGTCAGACAGAAAGAAGAGGTGAGGGAAAGCGGCTGCCTCAAGGCAGGCTGCCCTTTCCCTGAAAAGTCACTCGAGCCCCAGGTTGGTGGGTGTGTTGGGAAGAGCAGCCCGCTGGAGCCAGTGCACAGGCTGTTCCCTCCGACACAGTGGTCGAGAGTCTCTCTCTCACCAGCACCTCCCACAGCCCATCGCAGCATTTTACTTTTACATATGCCAAGAATACTTTAGAAATGCTTTATCACATTGCACTATCATGACTCGCTAAGTAAACACCAGCAAGCATTTAATGAGTACCTGCTGCATGCCAGCTACCAGGCAGGGCTAGGAGGTGACTTCCAAAATTACCTATTCTATTCCAGTGCTCATTTAAAAGATGGGCAAGCCAAAGCGCAGAGTGACTAGTGACCTGCCCAAGGTCACAAGACCTTGAACAACAGAACCAAAACTTCACCCTAGATCTCATGACTTCCCCTTCCTATGCTCTTTCCAACATATCCAGACAAACATCTTGGGAATGGATGCTCAGGGTTGAAAGGTTGGAAAACAAGGGAACTAACTAGGAAATTTAAACTTCTGGGACTGAATCCATCTACTTTGAATGAATGGGACAAATAGCCAAATAGTACCTCAGTGTTTGTGATCTATGAATGACTTCCATCCCTCTGTATAAAGTGGACACACATTGCTGCCTGGCTCTTCATCCCAAGGGGCTCCTATCCAAACAGCTTATATAAATTGATACCTTCCTACCACCTTAGCCAATGTTAGGTTGAACCCTATGAAGTTGTCATTTTTTATGGGTCAAAGAGGTAGAATATTAGCAATTTCATATGGTTCCACCTGATACACCCTCACATACGCAGCAATAAGTTGTGCACCCGATGGAGAGGAAAAGGCACTGGGTGCGGGGAGAGGGGCTGGTCAGAGGCCTGAGCCTCAGTGTCCCCAATATATTCATAGCTCTGACCCCAGGACTGGAAGCCACTCACTCTTTGACTTCTTTGGAGGAAAAGTCCAGGTAGCGATTGCTGATCCACTGAATCTCAAACCAGTCCCGAAAACCGTTGTTGCCGCAGCATTTGAACTCGATCTGCAGCATGTCGATGGTCTTCTTCATGAAACACCTGCCAGGGGTGTCTGTGTCCCGGTAGTACTTCATGCCGTTCTTGAGCCCTTGGCCCAGGGTGTTCTCCAGCGAGCCCCGAAGCAGAAAGCAGCAGAGAGCCACAAGGAAGAGGATGATGTTGAAGAGAACACAGATAGCCAGGTACGGCTTCAGCCAGGGCTTCCATCTGGCATACTTGGCTGGGTCCAGGGCGTCGTAGCAGATCTTCCCAGCCAGCGAGTTGAAGACACAGGATAGCACCCCCATCCCTATCAATGAGTTGGGCACAAAATGGCTCTCAGAATTATTCATCACATCGCTCCTCTTTCGGAGTTCAATCTTCAGGAACAGTCCTAGGCTGAAGATGATGATGCCAGCCAACACGGAGAACCAGTTCATGAGCCAGAGCCCTTGGGCCAACTTGACCCGCTTCTTCTGGTCAAACTTGACTTTCAGTAGCGCCATGCTTGCCAAGTGTAGTCCGGGTTGCTTCCCACAGCACAGCTCCCACCCCAAACCTTAACGAGCCCAGAGGCGGAGACTTAGGGCCTTGGGAAAAGTGCAGATGGCCCAAGCTGTAGGGAGCTGCCCTGGGGGCTACCCATGTCGAGTCCCACTAGCCTGGGATCCCCGTGAATGCAGTAGTGGTGGCAGGGGTCTCGGAATCACAGCTTGAGCAGGGGATAGTCCTGGTCCTGGGCGTTGTTTCTTCAGCGCCCTTCCCAGCCAAGAAGGGGCAGCCTGAACGCTGCAGATTAAAAGTGGGATCCACAAGACATTTTGCTAATCTCTTTAGCCAGGTTCATCCCATTAGATAAAGCCATGCCACTCTCAAAACATGGTCAAAAGCAGCCTCCAGGTACATGCTGAACCAGAAAGCTCTGGGTACAGCTTGGAGAATCAGGAGCAAAGGGCAAGACTGGCCAGAAGAATGGGCTGTATCTGGATGTCTGGCTCAGACCGTGTTGCTCCCCAAAAGCATATTTCCAGGCCAATCTCCTTCAACATTTAAAACTTTCTGTAGGACAAATAAATTGTTATCCTCTCTGAGAAAAGAAATGACAGGGCCAGGCACAGTGGATCACGCCTATAATCCCAGCACTTTGGGAGACCAAGTTGGGTGGATCACTTGAGCCCAGGAGTTCAAGACCAGCCTGGGCTACATAGGAAGACCCCATCTCCACACACACACACACACACACAAAAAAAAAAAAAAAAAAATTAGCTGGGTATGGTGGCATGCACCTGTAGTTCTCCCAGCTACTCTGGAGGCTGAGGTGGCAAGATCACCTGAGCCTGGGGAGTTCAAGGCTGCACTGAGCCATGATCGTGCCACTGCACTCCAGCCTGGGTGACAGAGTGAGGCCCTGTCTCAAATTTTAAAAAGACAAAGAAAAGAAGAGAAGAAGGAAGGAAAGAAAGAAAGTGACAGATCGTGAGAAAACATTTGCAACTTGTAAAATTAAAAAGTAATATACAGTGGCCAGGCATGGTGGCTTATGCCTGTAATCCCAGTACTTTGGGAGGCCAAGGCAGGTGGATCGCTTGAGCCCAGGAGGTGGAGGTTGCACTGAACTGAGATCCCCACATTGCACTCCAGCCTGGGTGACAGTGAGACTCTGTCTGGAAAAAAAAAAAAAAGAATTAATATGCAAAAATGTTTTAAGTCTCACAAATTCACAATAAACAAAAATTCACAATCAAAAGACCAATAATCAACTGGAAAAATAGGCAAAAACCAGGAACAGACAATTCATAATTAGGAAACTTGAAAAGTCCAATAATCTGGAAAAGATCTCAACTTGGGTAATAAGCAGGAAAATGCAAATCCAAACAACAATAAAATACCAAACTTGGCCGGGCACAGTGGTTCACACCTGTAATCCCAGCAGTTTGGAAGGCCAAGGTGGGTGGATCACTTGAGGTCAGGCATTCAAGACCAGCCTGGCCAACATGGTGAAACCCTGTCTCTACTAAAAATACAAAAATTGTCTGGGTATGGTGACAGGCACCTGTAATCCCAGTTACTTGTGAGGCTGAGGAAGGAGCATCAATTGAACCCGGGAAGTGGAGGTTGCAGTGAGCCAAGATTGCGCCATTGCACTCCAGCCTGGGTGACAAGAGTGAAATGACGTCTCAAAAAAAGAAAAAGACCAAACTCGATCCATCAAATTGAATGTATGTCAAAATTCTGTCACCATACATCAACAAAGAGAGTGGAAGTAGAAGTGTACACTCTTGGTGAATCTGTACATTTATTATTATTATTAATTAATGGATTATTTCTTACAGTAGTTTTAGGTTTACAAAA
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ATTTCCCACCAACAAGTTGGTATGGGACATTGAAGGAGTTTTGATTCAGCTAAATATTTGCCTGAAATTTTGGATCCATTGACCATTGAGAGTGGAGTGACCTAGATAATTCCTTCACTCTGATACAAAAGGGGATTTGGAGTTACCGAGAGATTTGAATACATCTGTCCAAGAACTGACTCTATGCAGGAGACAATCAAGGGAAATGATAGAGGAAAAGATGAAAAGCCCCTTCTCTGTGAGCCTCTGCTCACAGAGGCTGGTTCTACCATCGGCCTCTCCCACTCCCCAGAATTCTGCTTGTCCCCCTGGCTTCATGCCCTCCTCGGGAGATTTATGTAAATCGTGGCATCTTGTGCTGCCCCTGCAGACCTGTCACCTGGGAAGGGCACAGCCCTTTACAATCCTCTCCTGACTGGGGATTTGCAGCAGTAATCTCCATCCACAAGAAAATAAAATCCCAAGAAGTGACCTTCACTTGGACGTCCCTTCCATCTGCAGGGCAGATATAAGCTAGCTATTTGGGCGTCATTAATGTTGTTTTGGGCTTCAAACATGTCCTGCTGCTGGTGCCAATGCCCTGAGTTCAAGTTCCCTTTGGACTTGCCAGCCTCACTGGGAAGAAAAAAAAACCACCCTTAGGAATAACTGAACCCCTAACCTCAGCCAGGTAGGGTCGAGTCAGACAGAAAGAAGAGGTGAGGGAAAGCGGCTGCCTCAAGGCAGGCTGCCCTTTCCCTGAAAAGTCACTCGAGCCCCAGGTTGGTGGGTGTGTTGGGAAGAGCAGCCCGCTGGAGCCAGTGCACAGGCTGTTCCCTCCGACACAGTGGTCGAGAGTCTCTCTCTCACCAGCACCTCCCACAGCCCATCGCAGCATTTTACTTTTACATATGCCAAGAATACTTTAGAAATGCTTTATCACATTGCACTATCATGACTCGCTAAGTAAACACCAGCAAGCATTTAATGAGTACCTGCTGCATGCCAGCTACCAGGCAGGGCTAGGAGGTGACTTCCAAAATTACCTATTCTATTCCAGTGCTCATTTAAAAGATGGGCAAGCCAAAGCGCAGAGTGACTAGTGACCTGCCCAAGGTCACAAGACCTTGAACAACAGAACCAAAACTTCACCCTAGATCTCATGACTTCCCCTTCCTATGCTCTTTCCAACATATCCAGACAAACATCTTGGGAATGGATGCTCAGGGTTGAAAGGTTGGAAAACAAGGGAACTAACTAGGAAATTTAAACTTCTGGGACTGAATCCATCTACTTTGAATGAATGGGACAAATAGCCAAATAGTACCTCAGTGTTTGTGATCTATGAATGACTTCCATCCCTCTGTATAAAGTGGACACACATTGCTGCCTGGCTCTTCATCCCAAGGGGCTCCTATCCAAACAGCTTATATAAATTGATACCTTCCTACCACCTTAGCCAATGTTAGGTTGAACCCTATGAAGTTGTCATTTTTTATGGGTCAAAGAGGTAGAATATTAGCAATTTCATATGGTTCCACCTGATACACCCTCACATACGCAGCAATAAGTTGTGCACCCGATGGAGAGGAAAAGGCACTGGGTGCGGGGAGAGGGGCTGGTCAGAGGCCTGAGCCTCAGTGTCCCCAATATATTCATAGCTCTGACCCCAGGACTGGAAGCCACTCACTCTTTGACTTCTTTGGAGGAAAAGTCCAGGTAGCGATTGCTGATCCACTGAATCTCAAACCAGTCCCGAAAACCGTTGTTGCCGCAGCATTTGAACTCGATCTGCAGCATGTCGATGGTCTTCTTCATGAAACACCTGCCAGGGGTGTCTGTGTCCCGGTAGTACTTCATGCCGTTCTTGAGCCCTTGGCCCAGGGTGTTCTCCAGCGAGCCCCGAAGCAGAAAGCAGCAGAGAGCCACAAGGAAGAGGATGATGTTGAAGAGAACACAGATAGCCAGGTACGGCTTCAGCCAGGGCTTCCATCTGGCATACTTGGCTGGGTCCAGGGCGTCGTAGCAGATCTTCCCAGCCAGCGAGTTGAAGACACAGGATAGCACCCTCATCCCTATCAATGAGTTGGGCACAAAATGGCTCTCAGAATTATTCATCACATCGCTCCTCTTTCGGAGTTCAATCTTCAGGAACAGTCCTAGGCTGAAGATGATGATGCCAGCCAACACGGAGAACCAGTTCATGAGCCAGAGCCCTTGGGCCAACTTGACCCGCTTCTTCTGGTCAAACTTGACTTTCAGTAGCGCCATGCTTGCCAAGTGTAGTCCGGGTTGCTTCCCACAGCACAGCTCCCACCCCAAACCTTAACGAGCCCAGAGGCGGAGACTTAGGGCCTTGGGAAAAGTGCAGATGGCCCAAGCTGTAGGGAGCTGCCCTGGGGGCTACCCATGTCGAGTCCCACTAGCCTGGGATCCCCGTGAATGCAGTAGTGGTGGCAGGGGTCTCGGAATCACAGCTTGAGCAGGGGATAGTCCTGGTCCTGGGCGTTGTTTCTTCAGCGCCCTTCCCAGCCAAGAAGGGGCAGCCTGAACGCTGCAGATTAAAAGTGGGATCCACAAGACATTTTGCTAATCTCTTTAGCCAGGTTCATCCCATTAGATAAAGCCATGCCACTCTCAAAACATGGTCAAAAGCAGCCTCCAGGTACATGCTGAACCAGAAAGCTCTGGGTACAGCTTGGAGAATCAGGAGCAAAGGGCAAGACTGGCCAGAAGAATGGGCTGTATCTGGATGTCTGGCTCAGACCGTGTTGCTCCCCAAAAGCATATTTCCAGGCCAATCTCCTTCAACATTTAAAACTTTCTGTAGGACAAATAAATTGTTATCCTCTCTGAGAAAAGAAATGACAGGGCCAGGCACAGTGGATCACGCCTATAATCCCAGCACTTTGGGAGACCAAGTTGGGTGGATCACTTGAGCCCAGGAGTTCAAGACCAGCCTGGGCTACATAGGAAGACCCCATCTCCACACACACACACACACACACAAAAAAAAAAAAAAAAAAATTAGCTGGGTATGGTGGCATGCACCTGTAGTTCTCCCAGCTACTCTGGAGGCTGAGGTGGCAAGATCACCTGAGCCTGGGGAGTTCAAGGCTGCACTGAGCCATGATCGTGCCACTGCACTCCAGCCTGGGTGACAGAGTGAGGCCCTGTCTCAAATTTTAAAAAGACAAAGAAAAGAAGAGAAGAAGGAAGGAAAGAAAGAAAGTGACAGATCGTGAGAAAACATTTGCAACTTGTAAAATTAAAAAGTAATATACAGTGGCCAGGCATGGTGGCTTATGCCTGTAATCCCAGTACTTTGGGAGGCCAAGGCAGGTGGATCGCTTGAGCCCAGGAGGTGGAGGTTGCACTGAACTGAGATCCCCACATTGCACTCCAGCCTGGGTGACAGTGAGACTCTGTCTGGAAAAAAAAAAAAAAGAATTAATATGCAAAAATGTTTTAAGTCTCACAAATTCACAATAAACAAAAATTCACAATCAAAAGACCAATAATCAACTGGAAAAATAGGCAAAAACCAGGAACAGACAATTCATAATTAGGAAACTTGAAAAGTCCAATAATCTGGAAAAGATCTCAACTTGGGTAATAAGCAGGAAAATGCAAATCCAAACAACAATAAAATACCAAACTTGGCCGGGCACAGTGGTTCACACCTGTAATCCCAGCAGTTTGGAAGGCCAAGGTGGGTGGATCACTTGAGGTCAGGCATTCAAGACCAGCCTGGCCAACATGGTGAAACCCTGTCTCTACTAAAAATACAAAAATTGTCTGGGTATGGTGACAGGCACCTGTAATCCCAGTTACTTGTGAGGCTGAGGAAGGAGCATCAATTGAACCCGGGAAGTGGAGGTTGCAGTGAGCCAAGATTGCGCCATTGCACTCCAGCCTGGGTGACAAGAGTGAAATGACGTCTCAAAAAAAGAAAAAGACCAAACTCGATCCATCAAATTGAATGTATGTCAAAATTCTGTCACCATACATCAACAAAGAGAGTGGAAGTAGAAGTGTACACTCTTGGTGAATCTGTACATTTATTATTATTATTAATTAATGGATTATTTCTTACAGTAGTTTTAGGTTTACAAAA
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Task1_train_10327
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Assess the clinical impact of this variant on gene PRPH2 (peripherin 2), found on Chromosome 6. State whether it’s pathogenic or benign, and the disease if applicable.
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Pathogenic; Pigmentary retinal dystrophy
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GGGAAATGATAGAGGAAAAGATGAAAAGCCCCTTCTCTGTGAGCCTCTGCTCACAGAGGCTGGTTCTACCATCGGCCTCTCCCACTCCCCAGAATTCTGCTTGTCCCCCTGGCTTCATGCCCTCCTCGGGAGATTTATGTAAATCGTGGCATCTTGTGCTGCCCCTGCAGACCTGTCACCTGGGAAGGGCACAGCCCTTTACAATCCTCTCCTGACTGGGGATTTGCAGCAGTAATCTCCATCCACAAGAAAATAAAATCCCAAGAAGTGACCTTCACTTGGACGTCCCTTCCATCTGCAGGGCAGATATAAGCTAGCTATTTGGGCGTCATTAATGTTGTTTTGGGCTTCAAACATGTCCTGCTGCTGGTGCCAATGCCCTGAGTTCAAGTTCCCTTTGGACTTGCCAGCCTCACTGGGAAGAAAAAAAAACCACCCTTAGGAATAACTGAACCCCTAACCTCAGCCAGGTAGGGTCGAGTCAGACAGAAAGAAGAGGTGAGGGAAAGCGGCTGCCTCAAGGCAGGCTGCCCTTTCCCTGAAAAGTCACTCGAGCCCCAGGTTGGTGGGTGTGTTGGGAAGAGCAGCCCGCTGGAGCCAGTGCACAGGCTGTTCCCTCCGACACAGTGGTCGAGAGTCTCTCTCTCACCAGCACCTCCCACAGCCCATCGCAGCATTTTACTTTTACATATGCCAAGAATACTTTAGAAATGCTTTATCACATTGCACTATCATGACTCGCTAAGTAAACACCAGCAAGCATTTAATGAGTACCTGCTGCATGCCAGCTACCAGGCAGGGCTAGGAGGTGACTTCCAAAATTACCTATTCTATTCCAGTGCTCATTTAAAAGATGGGCAAGCCAAAGCGCAGAGTGACTAGTGACCTGCCCAAGGTCACAAGACCTTGAACAACAGAACCAAAACTTCACCCTAGATCTCATGACTTCCCCTTCCTATGCTCTTTCCAACATATCCAGACAAACATCTTGGGAATGGATGCTCAGGGTTGAAAGGTTGGAAAACAAGGGAACTAACTAGGAAATTTAAACTTCTGGGACTGAATCCATCTACTTTGAATGAATGGGACAAATAGCCAAATAGTACCTCAGTGTTTGTGATCTATGAATGACTTCCATCCCTCTGTATAAAGTGGACACACATTGCTGCCTGGCTCTTCATCCCAAGGGGCTCCTATCCAAACAGCTTATATAAATTGATACCTTCCTACCACCTTAGCCAATGTTAGGTTGAACCCTATGAAGTTGTCATTTTTTATGGGTCAAAGAGGTAGAATATTAGCAATTTCATATGGTTCCACCTGATACACCCTCACATACGCAGCAATAAGTTGTGCACCCGATGGAGAGGAAAAGGCACTGGGTGCGGGGAGAGGGGCTGGTCAGAGGCCTGAGCCTCAGTGTCCCCAATATATTCATAGCTCTGACCCCAGGACTGGAAGCCACTCACTCTTTGACTTCTTTGGAGGAAAAGTCCAGGTAGCGATTGCTGATCCACTGAATCTCAAACCAGTCCCGAAAACCGTTGTTGCCGCAGCATTTGAACTCGATCTGCAGCATGTCGATGGTCTTCTTCATGAAACACCTGCCAGGGGTGTCTGTGTCCCGGTAGTACTTCATGCCGTTCTTGAGCCCTTGGCCCAGGGTGTTCTCCAGCGAGCCCCGAAGCAGAAAGCAGCAGAGAGCCACAAGGAAGAGGATGATGTTGAAGAGAACACAGATAGCCAGGTACGGCTTCAGCCAGGGCTTCCATCTGGCATACTTGGCTGGGTCCAGGGCGTCGTAGCAGATCTTCCCAGCCAGCGAGTTGAAGACACAGGATAGCACCCCCATCCCTATCAATGAGTTGGGCACAAAATGGCTCTCAGAATTATTCATCACATCGCTCCTCTTTCGGAGTTCAATCTTCAGGAACAGTCCTAGGCTGAAGATGATGATGCCAGCCAACACGGAGAACCAGTTCATGAGCCAGAGCCCTTGGGCCAACTTGACCCGCTTCTTCTGGTCAAACTTGACTTTCAGTAGCGCCATGCTTGCCAAGTGTAGTCCGGGTTGCTTCCCACAGCACAGCTCCCACCCCAAACCTTAACGAGCCCAGAGGCGGAGACTTAGGGCCTTGGGAAAAGTGCAGATGGCCCAAGCTGTAGGGAGCTGCCCTGGGGGCTACCCATGTCGAGTCCCACTAGCCTGGGATCCCCGTGAATGCAGTAGTGGTGGCAGGGGTCTCGGAATCACAGCTTGAGCAGGGGATAGTCCTGGTCCTGGGCGTTGTTTCTTCAGCGCCCTTCCCAGCCAAGAAGGGGCAGCCTGAACGCTGCAGATTAAAAGTGGGATCCACAAGACATTTTGCTAATCTCTTTAGCCAGGTTCATCCCATTAGATAAAGCCATGCCACTCTCAAAACATGGTCAAAAGCAGCCTCCAGGTACATGCTGAACCAGAAAGCTCTGGGTACAGCTTGGAGAATCAGGAGCAAAGGGCAAGACTGGCCAGAAGAATGGGCTGTATCTGGATGTCTGGCTCAGACCGTGTTGCTCCCCAAAAGCATATTTCCAGGCCAATCTCCTTCAACATTTAAAACTTTCTGTAGGACAAATAAATTGTTATCCTCTCTGAGAAAAGAAATGACAGGGCCAGGCACAGTGGATCACGCCTATAATCCCAGCACTTTGGGAGACCAAGTTGGGTGGATCACTTGAGCCCAGGAGTTCAAGACCAGCCTGGGCTACATAGGAAGACCCCATCTCCACACACACACACACACACACAAAAAAAAAAAAAAAAAAATTAGCTGGGTATGGTGGCATGCACCTGTAGTTCTCCCAGCTACTCTGGAGGCTGAGGTGGCAAGATCACCTGAGCCTGGGGAGTTCAAGGCTGCACTGAGCCATGATCGTGCCACTGCACTCCAGCCTGGGTGACAGAGTGAGGCCCTGTCTCAAATTTTAAAAAGACAAAGAAAAGAAGAGAAGAAGGAAGGAAAGAAAGAAAGTGACAGATCGTGAGAAAACATTTGCAACTTGTAAAATTAAAAAGTAATATACAGTGGCCAGGCATGGTGGCTTATGCCTGTAATCCCAGTACTTTGGGAGGCCAAGGCAGGTGGATCGCTTGAGCCCAGGAGGTGGAGGTTGCACTGAACTGAGATCCCCACATTGCACTCCAGCCTGGGTGACAGTGAGACTCTGTCTGGAAAAAAAAAAAAAAGAATTAATATGCAAAAATGTTTTAAGTCTCACAAATTCACAATAAACAAAAATTCACAATCAAAAGACCAATAATCAACTGGAAAAATAGGCAAAAACCAGGAACAGACAATTCATAATTAGGAAACTTGAAAAGTCCAATAATCTGGAAAAGATCTCAACTTGGGTAATAAGCAGGAAAATGCAAATCCAAACAACAATAAAATACCAAACTTGGCCGGGCACAGTGGTTCACACCTGTAATCCCAGCAGTTTGGAAGGCCAAGGTGGGTGGATCACTTGAGGTCAGGCATTCAAGACCAGCCTGGCCAACATGGTGAAACCCTGTCTCTACTAAAAATACAAAAATTGTCTGGGTATGGTGACAGGCACCTGTAATCCCAGTTACTTGTGAGGCTGAGGAAGGAGCATCAATTGAACCCGGGAAGTGGAGGTTGCAGTGAGCCAAGATTGCGCCATTGCACTCCAGCCTGGGTGACAAGAGTGAAATGACGTCTCAAAAAAAGAAAAAGACCAAACTCGATCCATCAAATTGAATGTATGTCAAAATTCTGTCACCATACATCAACAAAGAGAGTGGAAGTAGAAGTGTACACTCTTGGTGAATCTGTACATTTATTATTATTATTAATTAATGGATTATTTCTTACAGTAGTTTTAGGTTTACAAAAAAATTGAACAGAAAATACAGGGAGTTCCCATTATTCTCCATCTCCCCAACCAGTTTCTCCTCTAATTAATATCTTGCATTAATGTGGTACATTTGTTACAATTAATGAACCAATATTGATGCACTATTATTAACTAAAGTCTATAGTTTACATTAAGGTTCAGTCTTTGTGCATATAATTCTGTCACTTTTGCCAAATGC
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GGGAAATGATAGAGGAAAAGATGAAAAGCCCCTTCTCTGTGAGCCTCTGCTCACAGAGGCTGGTTCTACCATCGGCCTCTCCCACTCCCCAGAATTCTGCTTGTCCCCCTGGCTTCATGCCCTCCTCGGGAGATTTATGTAAATCGTGGCATCTTGTGCTGCCCCTGCAGACCTGTCACCTGGGAAGGGCACAGCCCTTTACAATCCTCTCCTGACTGGGGATTTGCAGCAGTAATCTCCATCCACAAGAAAATAAAATCCCAAGAAGTGACCTTCACTTGGACGTCCCTTCCATCTGCAGGGCAGATATAAGCTAGCTATTTGGGCGTCATTAATGTTGTTTTGGGCTTCAAACATGTCCTGCTGCTGGTGCCAATGCCCTGAGTTCAAGTTCCCTTTGGACTTGCCAGCCTCACTGGGAAGAAAAAAAAACCACCCTTAGGAATAACTGAACCCCTAACCTCAGCCAGGTAGGGTCGAGTCAGACAGAAAGAAGAGGTGAGGGAAAGCGGCTGCCTCAAGGCAGGCTGCCCTTTCCCTGAAAAGTCACTCGAGCCCCAGGTTGGTGGGTGTGTTGGGAAGAGCAGCCCGCTGGAGCCAGTGCACAGGCTGTTCCCTCCGACACAGTGGTCGAGAGTCTCTCTCTCACCAGCACCTCCCACAGCCCATCGCAGCATTTTACTTTTACATATGCCAAGAATACTTTAGAAATGCTTTATCACATTGCACTATCATGACTCGCTAAGTAAACACCAGCAAGCATTTAATGAGTACCTGCTGCATGCCAGCTACCAGGCAGGGCTAGGAGGTGACTTCCAAAATTACCTATTCTATTCCAGTGCTCATTTAAAAGATGGGCAAGCCAAAGCGCAGAGTGACTAGTGACCTGCCCAAGGTCACAAGACCTTGAACAACAGAACCAAAACTTCACCCTAGATCTCATGACTTCCCCTTCCTATGCTCTTTCCAACATATCCAGACAAACATCTTGGGAATGGATGCTCAGGGTTGAAAGGTTGGAAAACAAGGGAACTAACTAGGAAATTTAAACTTCTGGGACTGAATCCATCTACTTTGAATGAATGGGACAAATAGCCAAATAGTACCTCAGTGTTTGTGATCTATGAATGACTTCCATCCCTCTGTATAAAGTGGACACACATTGCTGCCTGGCTCTTCATCCCAAGGGGCTCCTATCCAAACAGCTTATATAAATTGATACCTTCCTACCACCTTAGCCAATGTTAGGTTGAACCCTATGAAGTTGTCATTTTTTATGGGTCAAAGAGGTAGAATATTAGCAATTTCATATGGTTCCACCTGATACACCCTCACATACGCAGCAATAAGTTGTGCACCCGATGGAGAGGAAAAGGCACTGGGTGCGGGGAGAGGGGCTGGTCAGAGGCCTGAGCCTCAGTGTCCCCAATATATTCATAGCTCTGACCCCAGGACTGGAAGCCACTCACTCTTTGACTTCTTTGGAGGAAAAGTCCAGGTAGCGATTGCTGATCCACTGAATCTCAAACCAGTCCCGAAAACCGTTGTTGCCGCAGCATTTGAACTCGATCTGCAGCATGTCGATGGTCTTCTTCATGAAACACCTGCCAGGGGTGTCTGTGTCCCGGTAGTACTTCATGCCGTTCTTGAGCCCTTGGCCCAGGGTGTTCTCCAGCGAGCCCCGAAGCAGAAAGCAGCAGAGAGCCACAAGGAAGAGGATGATGTTGAAGAGAACACAGATAGCCAGGTACGGCTTCAGCCAGGGCTTCCATCTGGCATACTTGGCTGGGTCCAGGGCGTCGTAGCAGATCTTCCCAGCCAGCGAGTTGAAGACACAGGATAGCACCCCCATCCCTATCAATGAGTTGGGCACAAAATGGCTCTCAGAATTATTCATCACATCGCTCCTCTTTCGGAGTTCAATCTTCAGGAACAGTCCTAGGCTGAAGATGATGATGCCAGCCAACACGGAGAACCAGTTCATGAGCCAGAGCCCTTGGGCCAACTTGACCCGCTTCTTCTGGTCAAACTTGACTTTCAGTAGCGCCCTGCTTGCCAAGTGTAGTCCGGGTTGCTTCCCACAGCACAGCTCCCACCCCAAACCTTAACGAGCCCAGAGGCGGAGACTTAGGGCCTTGGGAAAAGTGCAGATGGCCCAAGCTGTAGGGAGCTGCCCTGGGGGCTACCCATGTCGAGTCCCACTAGCCTGGGATCCCCGTGAATGCAGTAGTGGTGGCAGGGGTCTCGGAATCACAGCTTGAGCAGGGGATAGTCCTGGTCCTGGGCGTTGTTTCTTCAGCGCCCTTCCCAGCCAAGAAGGGGCAGCCTGAACGCTGCAGATTAAAAGTGGGATCCACAAGACATTTTGCTAATCTCTTTAGCCAGGTTCATCCCATTAGATAAAGCCATGCCACTCTCAAAACATGGTCAAAAGCAGCCTCCAGGTACATGCTGAACCAGAAAGCTCTGGGTACAGCTTGGAGAATCAGGAGCAAAGGGCAAGACTGGCCAGAAGAATGGGCTGTATCTGGATGTCTGGCTCAGACCGTGTTGCTCCCCAAAAGCATATTTCCAGGCCAATCTCCTTCAACATTTAAAACTTTCTGTAGGACAAATAAATTGTTATCCTCTCTGAGAAAAGAAATGACAGGGCCAGGCACAGTGGATCACGCCTATAATCCCAGCACTTTGGGAGACCAAGTTGGGTGGATCACTTGAGCCCAGGAGTTCAAGACCAGCCTGGGCTACATAGGAAGACCCCATCTCCACACACACACACACACACACAAAAAAAAAAAAAAAAAAATTAGCTGGGTATGGTGGCATGCACCTGTAGTTCTCCCAGCTACTCTGGAGGCTGAGGTGGCAAGATCACCTGAGCCTGGGGAGTTCAAGGCTGCACTGAGCCATGATCGTGCCACTGCACTCCAGCCTGGGTGACAGAGTGAGGCCCTGTCTCAAATTTTAAAAAGACAAAGAAAAGAAGAGAAGAAGGAAGGAAAGAAAGAAAGTGACAGATCGTGAGAAAACATTTGCAACTTGTAAAATTAAAAAGTAATATACAGTGGCCAGGCATGGTGGCTTATGCCTGTAATCCCAGTACTTTGGGAGGCCAAGGCAGGTGGATCGCTTGAGCCCAGGAGGTGGAGGTTGCACTGAACTGAGATCCCCACATTGCACTCCAGCCTGGGTGACAGTGAGACTCTGTCTGGAAAAAAAAAAAAAAGAATTAATATGCAAAAATGTTTTAAGTCTCACAAATTCACAATAAACAAAAATTCACAATCAAAAGACCAATAATCAACTGGAAAAATAGGCAAAAACCAGGAACAGACAATTCATAATTAGGAAACTTGAAAAGTCCAATAATCTGGAAAAGATCTCAACTTGGGTAATAAGCAGGAAAATGCAAATCCAAACAACAATAAAATACCAAACTTGGCCGGGCACAGTGGTTCACACCTGTAATCCCAGCAGTTTGGAAGGCCAAGGTGGGTGGATCACTTGAGGTCAGGCATTCAAGACCAGCCTGGCCAACATGGTGAAACCCTGTCTCTACTAAAAATACAAAAATTGTCTGGGTATGGTGACAGGCACCTGTAATCCCAGTTACTTGTGAGGCTGAGGAAGGAGCATCAATTGAACCCGGGAAGTGGAGGTTGCAGTGAGCCAAGATTGCGCCATTGCACTCCAGCCTGGGTGACAAGAGTGAAATGACGTCTCAAAAAAAGAAAAAGACCAAACTCGATCCATCAAATTGAATGTATGTCAAAATTCTGTCACCATACATCAACAAAGAGAGTGGAAGTAGAAGTGTACACTCTTGGTGAATCTGTACATTTATTATTATTATTAATTAATGGATTATTTCTTACAGTAGTTTTAGGTTTACAAAAAAATTGAACAGAAAATACAGGGAGTTCCCATTATTCTCCATCTCCCCAACCAGTTTCTCCTCTAATTAATATCTTGCATTAATGTGGTACATTTGTTACAATTAATGAACCAATATTGATGCACTATTATTAACTAAAGTCTATAGTTTACATTAAGGTTCAGTCTTTGTGCATATAATTCTGTCACTTTTGCCAAATGC
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Task1_train_10328
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The gene PRPH2 (peripherin 2) is located on Chromosome 6, where a mutation has occurred. What is the medical relevance of this mutation?
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Pathogenic; PRPH2-related disorder
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GGGAAATGATAGAGGAAAAGATGAAAAGCCCCTTCTCTGTGAGCCTCTGCTCACAGAGGCTGGTTCTACCATCGGCCTCTCCCACTCCCCAGAATTCTGCTTGTCCCCCTGGCTTCATGCCCTCCTCGGGAGATTTATGTAAATCGTGGCATCTTGTGCTGCCCCTGCAGACCTGTCACCTGGGAAGGGCACAGCCCTTTACAATCCTCTCCTGACTGGGGATTTGCAGCAGTAATCTCCATCCACAAGAAAATAAAATCCCAAGAAGTGACCTTCACTTGGACGTCCCTTCCATCTGCAGGGCAGATATAAGCTAGCTATTTGGGCGTCATTAATGTTGTTTTGGGCTTCAAACATGTCCTGCTGCTGGTGCCAATGCCCTGAGTTCAAGTTCCCTTTGGACTTGCCAGCCTCACTGGGAAGAAAAAAAAACCACCCTTAGGAATAACTGAACCCCTAACCTCAGCCAGGTAGGGTCGAGTCAGACAGAAAGAAGAGGTGAGGGAAAGCGGCTGCCTCAAGGCAGGCTGCCCTTTCCCTGAAAAGTCACTCGAGCCCCAGGTTGGTGGGTGTGTTGGGAAGAGCAGCCCGCTGGAGCCAGTGCACAGGCTGTTCCCTCCGACACAGTGGTCGAGAGTCTCTCTCTCACCAGCACCTCCCACAGCCCATCGCAGCATTTTACTTTTACATATGCCAAGAATACTTTAGAAATGCTTTATCACATTGCACTATCATGACTCGCTAAGTAAACACCAGCAAGCATTTAATGAGTACCTGCTGCATGCCAGCTACCAGGCAGGGCTAGGAGGTGACTTCCAAAATTACCTATTCTATTCCAGTGCTCATTTAAAAGATGGGCAAGCCAAAGCGCAGAGTGACTAGTGACCTGCCCAAGGTCACAAGACCTTGAACAACAGAACCAAAACTTCACCCTAGATCTCATGACTTCCCCTTCCTATGCTCTTTCCAACATATCCAGACAAACATCTTGGGAATGGATGCTCAGGGTTGAAAGGTTGGAAAACAAGGGAACTAACTAGGAAATTTAAACTTCTGGGACTGAATCCATCTACTTTGAATGAATGGGACAAATAGCCAAATAGTACCTCAGTGTTTGTGATCTATGAATGACTTCCATCCCTCTGTATAAAGTGGACACACATTGCTGCCTGGCTCTTCATCCCAAGGGGCTCCTATCCAAACAGCTTATATAAATTGATACCTTCCTACCACCTTAGCCAATGTTAGGTTGAACCCTATGAAGTTGTCATTTTTTATGGGTCAAAGAGGTAGAATATTAGCAATTTCATATGGTTCCACCTGATACACCCTCACATACGCAGCAATAAGTTGTGCACCCGATGGAGAGGAAAAGGCACTGGGTGCGGGGAGAGGGGCTGGTCAGAGGCCTGAGCCTCAGTGTCCCCAATATATTCATAGCTCTGACCCCAGGACTGGAAGCCACTCACTCTTTGACTTCTTTGGAGGAAAAGTCCAGGTAGCGATTGCTGATCCACTGAATCTCAAACCAGTCCCGAAAACCGTTGTTGCCGCAGCATTTGAACTCGATCTGCAGCATGTCGATGGTCTTCTTCATGAAACACCTGCCAGGGGTGTCTGTGTCCCGGTAGTACTTCATGCCGTTCTTGAGCCCTTGGCCCAGGGTGTTCTCCAGCGAGCCCCGAAGCAGAAAGCAGCAGAGAGCCACAAGGAAGAGGATGATGTTGAAGAGAACACAGATAGCCAGGTACGGCTTCAGCCAGGGCTTCCATCTGGCATACTTGGCTGGGTCCAGGGCGTCGTAGCAGATCTTCCCAGCCAGCGAGTTGAAGACACAGGATAGCACCCCCATCCCTATCAATGAGTTGGGCACAAAATGGCTCTCAGAATTATTCATCACATCGCTCCTCTTTCGGAGTTCAATCTTCAGGAACAGTCCTAGGCTGAAGATGATGATGCCAGCCAACACGGAGAACCAGTTCATGAGCCAGAGCCCTTGGGCCAACTTGACCCGCTTCTTCTGGTCAAACTTGACTTTCAGTAGCGCCATGCTTGCCAAGTGTAGTCCGGGTTGCTTCCCACAGCACAGCTCCCACCCCAAACCTTAACGAGCCCAGAGGCGGAGACTTAGGGCCTTGGGAAAAGTGCAGATGGCCCAAGCTGTAGGGAGCTGCCCTGGGGGCTACCCATGTCGAGTCCCACTAGCCTGGGATCCCCGTGAATGCAGTAGTGGTGGCAGGGGTCTCGGAATCACAGCTTGAGCAGGGGATAGTCCTGGTCCTGGGCGTTGTTTCTTCAGCGCCCTTCCCAGCCAAGAAGGGGCAGCCTGAACGCTGCAGATTAAAAGTGGGATCCACAAGACATTTTGCTAATCTCTTTAGCCAGGTTCATCCCATTAGATAAAGCCATGCCACTCTCAAAACATGGTCAAAAGCAGCCTCCAGGTACATGCTGAACCAGAAAGCTCTGGGTACAGCTTGGAGAATCAGGAGCAAAGGGCAAGACTGGCCAGAAGAATGGGCTGTATCTGGATGTCTGGCTCAGACCGTGTTGCTCCCCAAAAGCATATTTCCAGGCCAATCTCCTTCAACATTTAAAACTTTCTGTAGGACAAATAAATTGTTATCCTCTCTGAGAAAAGAAATGACAGGGCCAGGCACAGTGGATCACGCCTATAATCCCAGCACTTTGGGAGACCAAGTTGGGTGGATCACTTGAGCCCAGGAGTTCAAGACCAGCCTGGGCTACATAGGAAGACCCCATCTCCACACACACACACACACACACAAAAAAAAAAAAAAAAAAATTAGCTGGGTATGGTGGCATGCACCTGTAGTTCTCCCAGCTACTCTGGAGGCTGAGGTGGCAAGATCACCTGAGCCTGGGGAGTTCAAGGCTGCACTGAGCCATGATCGTGCCACTGCACTCCAGCCTGGGTGACAGAGTGAGGCCCTGTCTCAAATTTTAAAAAGACAAAGAAAAGAAGAGAAGAAGGAAGGAAAGAAAGAAAGTGACAGATCGTGAGAAAACATTTGCAACTTGTAAAATTAAAAAGTAATATACAGTGGCCAGGCATGGTGGCTTATGCCTGTAATCCCAGTACTTTGGGAGGCCAAGGCAGGTGGATCGCTTGAGCCCAGGAGGTGGAGGTTGCACTGAACTGAGATCCCCACATTGCACTCCAGCCTGGGTGACAGTGAGACTCTGTCTGGAAAAAAAAAAAAAAGAATTAATATGCAAAAATGTTTTAAGTCTCACAAATTCACAATAAACAAAAATTCACAATCAAAAGACCAATAATCAACTGGAAAAATAGGCAAAAACCAGGAACAGACAATTCATAATTAGGAAACTTGAAAAGTCCAATAATCTGGAAAAGATCTCAACTTGGGTAATAAGCAGGAAAATGCAAATCCAAACAACAATAAAATACCAAACTTGGCCGGGCACAGTGGTTCACACCTGTAATCCCAGCAGTTTGGAAGGCCAAGGTGGGTGGATCACTTGAGGTCAGGCATTCAAGACCAGCCTGGCCAACATGGTGAAACCCTGTCTCTACTAAAAATACAAAAATTGTCTGGGTATGGTGACAGGCACCTGTAATCCCAGTTACTTGTGAGGCTGAGGAAGGAGCATCAATTGAACCCGGGAAGTGGAGGTTGCAGTGAGCCAAGATTGCGCCATTGCACTCCAGCCTGGGTGACAAGAGTGAAATGACGTCTCAAAAAAAGAAAAAGACCAAACTCGATCCATCAAATTGAATGTATGTCAAAATTCTGTCACCATACATCAACAAAGAGAGTGGAAGTAGAAGTGTACACTCTTGGTGAATCTGTACATTTATTATTATTATTAATTAATGGATTATTTCTTACAGTAGTTTTAGGTTTACAAAAAAATTGAACAGAAAATACAGGGAGTTCCCATTATTCTCCATCTCCCCAACCAGTTTCTCCTCTAATTAATATCTTGCATTAATGTGGTACATTTGTTACAATTAATGAACCAATATTGATGCACTATTATTAACTAAAGTCTATAGTTTACATTAAGGTTCAGTCTTTGTGCATATAATTCTGTCACTTTTGCCAAATGC
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GGGAAATGATAGAGGAAAAGATGAAAAGCCCCTTCTCTGTGAGCCTCTGCTCACAGAGGCTGGTTCTACCATCGGCCTCTCCCACTCCCCAGAATTCTGCTTGTCCCCCTGGCTTCATGCCCTCCTCGGGAGATTTATGTAAATCGTGGCATCTTGTGCTGCCCCTGCAGACCTGTCACCTGGGAAGGGCACAGCCCTTTACAATCCTCTCCTGACTGGGGATTTGCAGCAGTAATCTCCATCCACAAGAAAATAAAATCCCAAGAAGTGACCTTCACTTGGACGTCCCTTCCATCTGCAGGGCAGATATAAGCTAGCTATTTGGGCGTCATTAATGTTGTTTTGGGCTTCAAACATGTCCTGCTGCTGGTGCCAATGCCCTGAGTTCAAGTTCCCTTTGGACTTGCCAGCCTCACTGGGAAGAAAAAAAAACCACCCTTAGGAATAACTGAACCCCTAACCTCAGCCAGGTAGGGTCGAGTCAGACAGAAAGAAGAGGTGAGGGAAAGCGGCTGCCTCAAGGCAGGCTGCCCTTTCCCTGAAAAGTCACTCGAGCCCCAGGTTGGTGGGTGTGTTGGGAAGAGCAGCCCGCTGGAGCCAGTGCACAGGCTGTTCCCTCCGACACAGTGGTCGAGAGTCTCTCTCTCACCAGCACCTCCCACAGCCCATCGCAGCATTTTACTTTTACATATGCCAAGAATACTTTAGAAATGCTTTATCACATTGCACTATCATGACTCGCTAAGTAAACACCAGCAAGCATTTAATGAGTACCTGCTGCATGCCAGCTACCAGGCAGGGCTAGGAGGTGACTTCCAAAATTACCTATTCTATTCCAGTGCTCATTTAAAAGATGGGCAAGCCAAAGCGCAGAGTGACTAGTGACCTGCCCAAGGTCACAAGACCTTGAACAACAGAACCAAAACTTCACCCTAGATCTCATGACTTCCCCTTCCTATGCTCTTTCCAACATATCCAGACAAACATCTTGGGAATGGATGCTCAGGGTTGAAAGGTTGGAAAACAAGGGAACTAACTAGGAAATTTAAACTTCTGGGACTGAATCCATCTACTTTGAATGAATGGGACAAATAGCCAAATAGTACCTCAGTGTTTGTGATCTATGAATGACTTCCATCCCTCTGTATAAAGTGGACACACATTGCTGCCTGGCTCTTCATCCCAAGGGGCTCCTATCCAAACAGCTTATATAAATTGATACCTTCCTACCACCTTAGCCAATGTTAGGTTGAACCCTATGAAGTTGTCATTTTTTATGGGTCAAAGAGGTAGAATATTAGCAATTTCATATGGTTCCACCTGATACACCCTCACATACGCAGCAATAAGTTGTGCACCCGATGGAGAGGAAAAGGCACTGGGTGCGGGGAGAGGGGCTGGTCAGAGGCCTGAGCCTCAGTGTCCCCAATATATTCATAGCTCTGACCCCAGGACTGGAAGCCACTCACTCTTTGACTTCTTTGGAGGAAAAGTCCAGGTAGCGATTGCTGATCCACTGAATCTCAAACCAGTCCCGAAAACCGTTGTTGCCGCAGCATTTGAACTCGATCTGCAGCATGTCGATGGTCTTCTTCATGAAACACCTGCCAGGGGTGTCTGTGTCCCGGTAGTACTTCATGCCGTTCTTGAGCCCTTGGCCCAGGGTGTTCTCCAGCGAGCCCCGAAGCAGAAAGCAGCAGAGAGCCACAAGGAAGAGGATGATGTTGAAGAGAACACAGATAGCCAGGTACGGCTTCAGCCAGGGCTTCCATCTGGCATACTTGGCTGGGTCCAGGGCGTCGTAGCAGATCTTCCCAGCCAGCGAGTTGAAGACACAGGATAGCACCCCCATCCCTATCAATGAGTTGGGCACAAAATGGCTCTCAGAATTATTCATCACATCGCTCCTCTTTCGGAGTTCAATCTTCAGGAACAGTCCTAGGCTGAAGATGATGATGCCAGCCAACACGGAGAACCAGTTCATGAGCCAGAGCCCTTGGGCCAACTTGACCCGCTTCTTCTGGTCAAACTTGACTTTCAGTAGCGCCGTGCTTGCCAAGTGTAGTCCGGGTTGCTTCCCACAGCACAGCTCCCACCCCAAACCTTAACGAGCCCAGAGGCGGAGACTTAGGGCCTTGGGAAAAGTGCAGATGGCCCAAGCTGTAGGGAGCTGCCCTGGGGGCTACCCATGTCGAGTCCCACTAGCCTGGGATCCCCGTGAATGCAGTAGTGGTGGCAGGGGTCTCGGAATCACAGCTTGAGCAGGGGATAGTCCTGGTCCTGGGCGTTGTTTCTTCAGCGCCCTTCCCAGCCAAGAAGGGGCAGCCTGAACGCTGCAGATTAAAAGTGGGATCCACAAGACATTTTGCTAATCTCTTTAGCCAGGTTCATCCCATTAGATAAAGCCATGCCACTCTCAAAACATGGTCAAAAGCAGCCTCCAGGTACATGCTGAACCAGAAAGCTCTGGGTACAGCTTGGAGAATCAGGAGCAAAGGGCAAGACTGGCCAGAAGAATGGGCTGTATCTGGATGTCTGGCTCAGACCGTGTTGCTCCCCAAAAGCATATTTCCAGGCCAATCTCCTTCAACATTTAAAACTTTCTGTAGGACAAATAAATTGTTATCCTCTCTGAGAAAAGAAATGACAGGGCCAGGCACAGTGGATCACGCCTATAATCCCAGCACTTTGGGAGACCAAGTTGGGTGGATCACTTGAGCCCAGGAGTTCAAGACCAGCCTGGGCTACATAGGAAGACCCCATCTCCACACACACACACACACACACAAAAAAAAAAAAAAAAAAATTAGCTGGGTATGGTGGCATGCACCTGTAGTTCTCCCAGCTACTCTGGAGGCTGAGGTGGCAAGATCACCTGAGCCTGGGGAGTTCAAGGCTGCACTGAGCCATGATCGTGCCACTGCACTCCAGCCTGGGTGACAGAGTGAGGCCCTGTCTCAAATTTTAAAAAGACAAAGAAAAGAAGAGAAGAAGGAAGGAAAGAAAGAAAGTGACAGATCGTGAGAAAACATTTGCAACTTGTAAAATTAAAAAGTAATATACAGTGGCCAGGCATGGTGGCTTATGCCTGTAATCCCAGTACTTTGGGAGGCCAAGGCAGGTGGATCGCTTGAGCCCAGGAGGTGGAGGTTGCACTGAACTGAGATCCCCACATTGCACTCCAGCCTGGGTGACAGTGAGACTCTGTCTGGAAAAAAAAAAAAAAGAATTAATATGCAAAAATGTTTTAAGTCTCACAAATTCACAATAAACAAAAATTCACAATCAAAAGACCAATAATCAACTGGAAAAATAGGCAAAAACCAGGAACAGACAATTCATAATTAGGAAACTTGAAAAGTCCAATAATCTGGAAAAGATCTCAACTTGGGTAATAAGCAGGAAAATGCAAATCCAAACAACAATAAAATACCAAACTTGGCCGGGCACAGTGGTTCACACCTGTAATCCCAGCAGTTTGGAAGGCCAAGGTGGGTGGATCACTTGAGGTCAGGCATTCAAGACCAGCCTGGCCAACATGGTGAAACCCTGTCTCTACTAAAAATACAAAAATTGTCTGGGTATGGTGACAGGCACCTGTAATCCCAGTTACTTGTGAGGCTGAGGAAGGAGCATCAATTGAACCCGGGAAGTGGAGGTTGCAGTGAGCCAAGATTGCGCCATTGCACTCCAGCCTGGGTGACAAGAGTGAAATGACGTCTCAAAAAAAGAAAAAGACCAAACTCGATCCATCAAATTGAATGTATGTCAAAATTCTGTCACCATACATCAACAAAGAGAGTGGAAGTAGAAGTGTACACTCTTGGTGAATCTGTACATTTATTATTATTATTAATTAATGGATTATTTCTTACAGTAGTTTTAGGTTTACAAAAAAATTGAACAGAAAATACAGGGAGTTCCCATTATTCTCCATCTCCCCAACCAGTTTCTCCTCTAATTAATATCTTGCATTAATGTGGTACATTTGTTACAATTAATGAACCAATATTGATGCACTATTATTAACTAAAGTCTATAGTTTACATTAAGGTTCAGTCTTTGTGCATATAATTCTGTCACTTTTGCCAAATGC
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Task1_train_10329
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A mutation in PRPH2 (peripherin 2), located on Chromosome 6, is being studied. Determine whether it’s pathogenic or benign, and specify the linked disease.
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Pathogenic; Retinal dystrophy
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GGGAAATGATAGAGGAAAAGATGAAAAGCCCCTTCTCTGTGAGCCTCTGCTCACAGAGGCTGGTTCTACCATCGGCCTCTCCCACTCCCCAGAATTCTGCTTGTCCCCCTGGCTTCATGCCCTCCTCGGGAGATTTATGTAAATCGTGGCATCTTGTGCTGCCCCTGCAGACCTGTCACCTGGGAAGGGCACAGCCCTTTACAATCCTCTCCTGACTGGGGATTTGCAGCAGTAATCTCCATCCACAAGAAAATAAAATCCCAAGAAGTGACCTTCACTTGGACGTCCCTTCCATCTGCAGGGCAGATATAAGCTAGCTATTTGGGCGTCATTAATGTTGTTTTGGGCTTCAAACATGTCCTGCTGCTGGTGCCAATGCCCTGAGTTCAAGTTCCCTTTGGACTTGCCAGCCTCACTGGGAAGAAAAAAAAACCACCCTTAGGAATAACTGAACCCCTAACCTCAGCCAGGTAGGGTCGAGTCAGACAGAAAGAAGAGGTGAGGGAAAGCGGCTGCCTCAAGGCAGGCTGCCCTTTCCCTGAAAAGTCACTCGAGCCCCAGGTTGGTGGGTGTGTTGGGAAGAGCAGCCCGCTGGAGCCAGTGCACAGGCTGTTCCCTCCGACACAGTGGTCGAGAGTCTCTCTCTCACCAGCACCTCCCACAGCCCATCGCAGCATTTTACTTTTACATATGCCAAGAATACTTTAGAAATGCTTTATCACATTGCACTATCATGACTCGCTAAGTAAACACCAGCAAGCATTTAATGAGTACCTGCTGCATGCCAGCTACCAGGCAGGGCTAGGAGGTGACTTCCAAAATTACCTATTCTATTCCAGTGCTCATTTAAAAGATGGGCAAGCCAAAGCGCAGAGTGACTAGTGACCTGCCCAAGGTCACAAGACCTTGAACAACAGAACCAAAACTTCACCCTAGATCTCATGACTTCCCCTTCCTATGCTCTTTCCAACATATCCAGACAAACATCTTGGGAATGGATGCTCAGGGTTGAAAGGTTGGAAAACAAGGGAACTAACTAGGAAATTTAAACTTCTGGGACTGAATCCATCTACTTTGAATGAATGGGACAAATAGCCAAATAGTACCTCAGTGTTTGTGATCTATGAATGACTTCCATCCCTCTGTATAAAGTGGACACACATTGCTGCCTGGCTCTTCATCCCAAGGGGCTCCTATCCAAACAGCTTATATAAATTGATACCTTCCTACCACCTTAGCCAATGTTAGGTTGAACCCTATGAAGTTGTCATTTTTTATGGGTCAAAGAGGTAGAATATTAGCAATTTCATATGGTTCCACCTGATACACCCTCACATACGCAGCAATAAGTTGTGCACCCGATGGAGAGGAAAAGGCACTGGGTGCGGGGAGAGGGGCTGGTCAGAGGCCTGAGCCTCAGTGTCCCCAATATATTCATAGCTCTGACCCCAGGACTGGAAGCCACTCACTCTTTGACTTCTTTGGAGGAAAAGTCCAGGTAGCGATTGCTGATCCACTGAATCTCAAACCAGTCCCGAAAACCGTTGTTGCCGCAGCATTTGAACTCGATCTGCAGCATGTCGATGGTCTTCTTCATGAAACACCTGCCAGGGGTGTCTGTGTCCCGGTAGTACTTCATGCCGTTCTTGAGCCCTTGGCCCAGGGTGTTCTCCAGCGAGCCCCGAAGCAGAAAGCAGCAGAGAGCCACAAGGAAGAGGATGATGTTGAAGAGAACACAGATAGCCAGGTACGGCTTCAGCCAGGGCTTCCATCTGGCATACTTGGCTGGGTCCAGGGCGTCGTAGCAGATCTTCCCAGCCAGCGAGTTGAAGACACAGGATAGCACCCCCATCCCTATCAATGAGTTGGGCACAAAATGGCTCTCAGAATTATTCATCACATCGCTCCTCTTTCGGAGTTCAATCTTCAGGAACAGTCCTAGGCTGAAGATGATGATGCCAGCCAACACGGAGAACCAGTTCATGAGCCAGAGCCCTTGGGCCAACTTGACCCGCTTCTTCTGGTCAAACTTGACTTTCAGTAGCGCCATGCTTGCCAAGTGTAGTCCGGGTTGCTTCCCACAGCACAGCTCCCACCCCAAACCTTAACGAGCCCAGAGGCGGAGACTTAGGGCCTTGGGAAAAGTGCAGATGGCCCAAGCTGTAGGGAGCTGCCCTGGGGGCTACCCATGTCGAGTCCCACTAGCCTGGGATCCCCGTGAATGCAGTAGTGGTGGCAGGGGTCTCGGAATCACAGCTTGAGCAGGGGATAGTCCTGGTCCTGGGCGTTGTTTCTTCAGCGCCCTTCCCAGCCAAGAAGGGGCAGCCTGAACGCTGCAGATTAAAAGTGGGATCCACAAGACATTTTGCTAATCTCTTTAGCCAGGTTCATCCCATTAGATAAAGCCATGCCACTCTCAAAACATGGTCAAAAGCAGCCTCCAGGTACATGCTGAACCAGAAAGCTCTGGGTACAGCTTGGAGAATCAGGAGCAAAGGGCAAGACTGGCCAGAAGAATGGGCTGTATCTGGATGTCTGGCTCAGACCGTGTTGCTCCCCAAAAGCATATTTCCAGGCCAATCTCCTTCAACATTTAAAACTTTCTGTAGGACAAATAAATTGTTATCCTCTCTGAGAAAAGAAATGACAGGGCCAGGCACAGTGGATCACGCCTATAATCCCAGCACTTTGGGAGACCAAGTTGGGTGGATCACTTGAGCCCAGGAGTTCAAGACCAGCCTGGGCTACATAGGAAGACCCCATCTCCACACACACACACACACACACAAAAAAAAAAAAAAAAAAATTAGCTGGGTATGGTGGCATGCACCTGTAGTTCTCCCAGCTACTCTGGAGGCTGAGGTGGCAAGATCACCTGAGCCTGGGGAGTTCAAGGCTGCACTGAGCCATGATCGTGCCACTGCACTCCAGCCTGGGTGACAGAGTGAGGCCCTGTCTCAAATTTTAAAAAGACAAAGAAAAGAAGAGAAGAAGGAAGGAAAGAAAGAAAGTGACAGATCGTGAGAAAACATTTGCAACTTGTAAAATTAAAAAGTAATATACAGTGGCCAGGCATGGTGGCTTATGCCTGTAATCCCAGTACTTTGGGAGGCCAAGGCAGGTGGATCGCTTGAGCCCAGGAGGTGGAGGTTGCACTGAACTGAGATCCCCACATTGCACTCCAGCCTGGGTGACAGTGAGACTCTGTCTGGAAAAAAAAAAAAAAGAATTAATATGCAAAAATGTTTTAAGTCTCACAAATTCACAATAAACAAAAATTCACAATCAAAAGACCAATAATCAACTGGAAAAATAGGCAAAAACCAGGAACAGACAATTCATAATTAGGAAACTTGAAAAGTCCAATAATCTGGAAAAGATCTCAACTTGGGTAATAAGCAGGAAAATGCAAATCCAAACAACAATAAAATACCAAACTTGGCCGGGCACAGTGGTTCACACCTGTAATCCCAGCAGTTTGGAAGGCCAAGGTGGGTGGATCACTTGAGGTCAGGCATTCAAGACCAGCCTGGCCAACATGGTGAAACCCTGTCTCTACTAAAAATACAAAAATTGTCTGGGTATGGTGACAGGCACCTGTAATCCCAGTTACTTGTGAGGCTGAGGAAGGAGCATCAATTGAACCCGGGAAGTGGAGGTTGCAGTGAGCCAAGATTGCGCCATTGCACTCCAGCCTGGGTGACAAGAGTGAAATGACGTCTCAAAAAAAGAAAAAGACCAAACTCGATCCATCAAATTGAATGTATGTCAAAATTCTGTCACCATACATCAACAAAGAGAGTGGAAGTAGAAGTGTACACTCTTGGTGAATCTGTACATTTATTATTATTATTAATTAATGGATTATTTCTTACAGTAGTTTTAGGTTTACAAAAAAATTGAACAGAAAATACAGGGAGTTCCCATTATTCTCCATCTCCCCAACCAGTTTCTCCTCTAATTAATATCTTGCATTAATGTGGTACATTTGTTACAATTAATGAACCAATATTGATGCACTATTATTAACTAAAGTCTATAGTTTACATTAAGGTTCAGTCTTTGTGCATATAATTCTGTCACTTTTGCCAAATGC
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GGGAAATGATAGAGGAAAAGATGAAAAGCCCCTTCTCTGTGAGCCTCTGCTCACAGAGGCTGGTTCTACCATCGGCCTCTCCCACTCCCCAGAATTCTGCTTGTCCCCCTGGCTTCATGCCCTCCTCGGGAGATTTATGTAAATCGTGGCATCTTGTGCTGCCCCTGCAGACCTGTCACCTGGGAAGGGCACAGCCCTTTACAATCCTCTCCTGACTGGGGATTTGCAGCAGTAATCTCCATCCACAAGAAAATAAAATCCCAAGAAGTGACCTTCACTTGGACGTCCCTTCCATCTGCAGGGCAGATATAAGCTAGCTATTTGGGCGTCATTAATGTTGTTTTGGGCTTCAAACATGTCCTGCTGCTGGTGCCAATGCCCTGAGTTCAAGTTCCCTTTGGACTTGCCAGCCTCACTGGGAAGAAAAAAAAACCACCCTTAGGAATAACTGAACCCCTAACCTCAGCCAGGTAGGGTCGAGTCAGACAGAAAGAAGAGGTGAGGGAAAGCGGCTGCCTCAAGGCAGGCTGCCCTTTCCCTGAAAAGTCACTCGAGCCCCAGGTTGGTGGGTGTGTTGGGAAGAGCAGCCCGCTGGAGCCAGTGCACAGGCTGTTCCCTCCGACACAGTGGTCGAGAGTCTCTCTCTCACCAGCACCTCCCACAGCCCATCGCAGCATTTTACTTTTACATATGCCAAGAATACTTTAGAAATGCTTTATCACATTGCACTATCATGACTCGCTAAGTAAACACCAGCAAGCATTTAATGAGTACCTGCTGCATGCCAGCTACCAGGCAGGGCTAGGAGGTGACTTCCAAAATTACCTATTCTATTCCAGTGCTCATTTAAAAGATGGGCAAGCCAAAGCGCAGAGTGACTAGTGACCTGCCCAAGGTCACAAGACCTTGAACAACAGAACCAAAACTTCACCCTAGATCTCATGACTTCCCCTTCCTATGCTCTTTCCAACATATCCAGACAAACATCTTGGGAATGGATGCTCAGGGTTGAAAGGTTGGAAAACAAGGGAACTAACTAGGAAATTTAAACTTCTGGGACTGAATCCATCTACTTTGAATGAATGGGACAAATAGCCAAATAGTACCTCAGTGTTTGTGATCTATGAATGACTTCCATCCCTCTGTATAAAGTGGACACACATTGCTGCCTGGCTCTTCATCCCAAGGGGCTCCTATCCAAACAGCTTATATAAATTGATACCTTCCTACCACCTTAGCCAATGTTAGGTTGAACCCTATGAAGTTGTCATTTTTTATGGGTCAAAGAGGTAGAATATTAGCAATTTCATATGGTTCCACCTGATACACCCTCACATACGCAGCAATAAGTTGTGCACCCGATGGAGAGGAAAAGGCACTGGGTGCGGGGAGAGGGGCTGGTCAGAGGCCTGAGCCTCAGTGTCCCCAATATATTCATAGCTCTGACCCCAGGACTGGAAGCCACTCACTCTTTGACTTCTTTGGAGGAAAAGTCCAGGTAGCGATTGCTGATCCACTGAATCTCAAACCAGTCCCGAAAACCGTTGTTGCCGCAGCATTTGAACTCGATCTGCAGCATGTCGATGGTCTTCTTCATGAAACACCTGCCAGGGGTGTCTGTGTCCCGGTAGTACTTCATGCCGTTCTTGAGCCCTTGGCCCAGGGTGTTCTCCAGCGAGCCCCGAAGCAGAAAGCAGCAGAGAGCCACAAGGAAGAGGATGATGTTGAAGAGAACACAGATAGCCAGGTACGGCTTCAGCCAGGGCTTCCATCTGGCATACTTGGCTGGGTCCAGGGCGTCGTAGCAGATCTTCCCAGCCAGCGAGTTGAAGACACAGGATAGCACCCCCATCCCTATCAATGAGTTGGGCACAAAATGGCTCTCAGAATTATTCATCACATCGCTCCTCTTTCGGAGTTCAATCTTCAGGAACAGTCCTAGGCTGAAGATGATGATGCCAGCCAACACGGAGAACCAGTTCATGAGCCAGAGCCCTTGGGCCAACTTGACCCGCTTCTTCTGGTCAAACTTGACTTTCAGTAGCGCCGTGCTTGCCAAGTGTAGTCCGGGTTGCTTCCCACAGCACAGCTCCCACCCCAAACCTTAACGAGCCCAGAGGCGGAGACTTAGGGCCTTGGGAAAAGTGCAGATGGCCCAAGCTGTAGGGAGCTGCCCTGGGGGCTACCCATGTCGAGTCCCACTAGCCTGGGATCCCCGTGAATGCAGTAGTGGTGGCAGGGGTCTCGGAATCACAGCTTGAGCAGGGGATAGTCCTGGTCCTGGGCGTTGTTTCTTCAGCGCCCTTCCCAGCCAAGAAGGGGCAGCCTGAACGCTGCAGATTAAAAGTGGGATCCACAAGACATTTTGCTAATCTCTTTAGCCAGGTTCATCCCATTAGATAAAGCCATGCCACTCTCAAAACATGGTCAAAAGCAGCCTCCAGGTACATGCTGAACCAGAAAGCTCTGGGTACAGCTTGGAGAATCAGGAGCAAAGGGCAAGACTGGCCAGAAGAATGGGCTGTATCTGGATGTCTGGCTCAGACCGTGTTGCTCCCCAAAAGCATATTTCCAGGCCAATCTCCTTCAACATTTAAAACTTTCTGTAGGACAAATAAATTGTTATCCTCTCTGAGAAAAGAAATGACAGGGCCAGGCACAGTGGATCACGCCTATAATCCCAGCACTTTGGGAGACCAAGTTGGGTGGATCACTTGAGCCCAGGAGTTCAAGACCAGCCTGGGCTACATAGGAAGACCCCATCTCCACACACACACACACACACACAAAAAAAAAAAAAAAAAAATTAGCTGGGTATGGTGGCATGCACCTGTAGTTCTCCCAGCTACTCTGGAGGCTGAGGTGGCAAGATCACCTGAGCCTGGGGAGTTCAAGGCTGCACTGAGCCATGATCGTGCCACTGCACTCCAGCCTGGGTGACAGAGTGAGGCCCTGTCTCAAATTTTAAAAAGACAAAGAAAAGAAGAGAAGAAGGAAGGAAAGAAAGAAAGTGACAGATCGTGAGAAAACATTTGCAACTTGTAAAATTAAAAAGTAATATACAGTGGCCAGGCATGGTGGCTTATGCCTGTAATCCCAGTACTTTGGGAGGCCAAGGCAGGTGGATCGCTTGAGCCCAGGAGGTGGAGGTTGCACTGAACTGAGATCCCCACATTGCACTCCAGCCTGGGTGACAGTGAGACTCTGTCTGGAAAAAAAAAAAAAAGAATTAATATGCAAAAATGTTTTAAGTCTCACAAATTCACAATAAACAAAAATTCACAATCAAAAGACCAATAATCAACTGGAAAAATAGGCAAAAACCAGGAACAGACAATTCATAATTAGGAAACTTGAAAAGTCCAATAATCTGGAAAAGATCTCAACTTGGGTAATAAGCAGGAAAATGCAAATCCAAACAACAATAAAATACCAAACTTGGCCGGGCACAGTGGTTCACACCTGTAATCCCAGCAGTTTGGAAGGCCAAGGTGGGTGGATCACTTGAGGTCAGGCATTCAAGACCAGCCTGGCCAACATGGTGAAACCCTGTCTCTACTAAAAATACAAAAATTGTCTGGGTATGGTGACAGGCACCTGTAATCCCAGTTACTTGTGAGGCTGAGGAAGGAGCATCAATTGAACCCGGGAAGTGGAGGTTGCAGTGAGCCAAGATTGCGCCATTGCACTCCAGCCTGGGTGACAAGAGTGAAATGACGTCTCAAAAAAAGAAAAAGACCAAACTCGATCCATCAAATTGAATGTATGTCAAAATTCTGTCACCATACATCAACAAAGAGAGTGGAAGTAGAAGTGTACACTCTTGGTGAATCTGTACATTTATTATTATTATTAATTAATGGATTATTTCTTACAGTAGTTTTAGGTTTACAAAAAAATTGAACAGAAAATACAGGGAGTTCCCATTATTCTCCATCTCCCCAACCAGTTTCTCCTCTAATTAATATCTTGCATTAATGTGGTACATTTGTTACAATTAATGAACCAATATTGATGCACTATTATTAACTAAAGTCTATAGTTTACATTAAGGTTCAGTCTTTGTGCATATAATTCTGTCACTTTTGCCAAATGC
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Task1_train_10330
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An alteration has been detected in PRPH2 (peripherin 2) on Chromosome 6. Is it pathogenic, and if so, what disease is involved?
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Pathogenic; PRPH2-related disorder
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GGAAATGATAGAGGAAAAGATGAAAAGCCCCTTCTCTGTGAGCCTCTGCTCACAGAGGCTGGTTCTACCATCGGCCTCTCCCACTCCCCAGAATTCTGCTTGTCCCCCTGGCTTCATGCCCTCCTCGGGAGATTTATGTAAATCGTGGCATCTTGTGCTGCCCCTGCAGACCTGTCACCTGGGAAGGGCACAGCCCTTTACAATCCTCTCCTGACTGGGGATTTGCAGCAGTAATCTCCATCCACAAGAAAATAAAATCCCAAGAAGTGACCTTCACTTGGACGTCCCTTCCATCTGCAGGGCAGATATAAGCTAGCTATTTGGGCGTCATTAATGTTGTTTTGGGCTTCAAACATGTCCTGCTGCTGGTGCCAATGCCCTGAGTTCAAGTTCCCTTTGGACTTGCCAGCCTCACTGGGAAGAAAAAAAAACCACCCTTAGGAATAACTGAACCCCTAACCTCAGCCAGGTAGGGTCGAGTCAGACAGAAAGAAGAGGTGAGGGAAAGCGGCTGCCTCAAGGCAGGCTGCCCTTTCCCTGAAAAGTCACTCGAGCCCCAGGTTGGTGGGTGTGTTGGGAAGAGCAGCCCGCTGGAGCCAGTGCACAGGCTGTTCCCTCCGACACAGTGGTCGAGAGTCTCTCTCTCACCAGCACCTCCCACAGCCCATCGCAGCATTTTACTTTTACATATGCCAAGAATACTTTAGAAATGCTTTATCACATTGCACTATCATGACTCGCTAAGTAAACACCAGCAAGCATTTAATGAGTACCTGCTGCATGCCAGCTACCAGGCAGGGCTAGGAGGTGACTTCCAAAATTACCTATTCTATTCCAGTGCTCATTTAAAAGATGGGCAAGCCAAAGCGCAGAGTGACTAGTGACCTGCCCAAGGTCACAAGACCTTGAACAACAGAACCAAAACTTCACCCTAGATCTCATGACTTCCCCTTCCTATGCTCTTTCCAACATATCCAGACAAACATCTTGGGAATGGATGCTCAGGGTTGAAAGGTTGGAAAACAAGGGAACTAACTAGGAAATTTAAACTTCTGGGACTGAATCCATCTACTTTGAATGAATGGGACAAATAGCCAAATAGTACCTCAGTGTTTGTGATCTATGAATGACTTCCATCCCTCTGTATAAAGTGGACACACATTGCTGCCTGGCTCTTCATCCCAAGGGGCTCCTATCCAAACAGCTTATATAAATTGATACCTTCCTACCACCTTAGCCAATGTTAGGTTGAACCCTATGAAGTTGTCATTTTTTATGGGTCAAAGAGGTAGAATATTAGCAATTTCATATGGTTCCACCTGATACACCCTCACATACGCAGCAATAAGTTGTGCACCCGATGGAGAGGAAAAGGCACTGGGTGCGGGGAGAGGGGCTGGTCAGAGGCCTGAGCCTCAGTGTCCCCAATATATTCATAGCTCTGACCCCAGGACTGGAAGCCACTCACTCTTTGACTTCTTTGGAGGAAAAGTCCAGGTAGCGATTGCTGATCCACTGAATCTCAAACCAGTCCCGAAAACCGTTGTTGCCGCAGCATTTGAACTCGATCTGCAGCATGTCGATGGTCTTCTTCATGAAACACCTGCCAGGGGTGTCTGTGTCCCGGTAGTACTTCATGCCGTTCTTGAGCCCTTGGCCCAGGGTGTTCTCCAGCGAGCCCCGAAGCAGAAAGCAGCAGAGAGCCACAAGGAAGAGGATGATGTTGAAGAGAACACAGATAGCCAGGTACGGCTTCAGCCAGGGCTTCCATCTGGCATACTTGGCTGGGTCCAGGGCGTCGTAGCAGATCTTCCCAGCCAGCGAGTTGAAGACACAGGATAGCACCCCCATCCCTATCAATGAGTTGGGCACAAAATGGCTCTCAGAATTATTCATCACATCGCTCCTCTTTCGGAGTTCAATCTTCAGGAACAGTCCTAGGCTGAAGATGATGATGCCAGCCAACACGGAGAACCAGTTCATGAGCCAGAGCCCTTGGGCCAACTTGACCCGCTTCTTCTGGTCAAACTTGACTTTCAGTAGCGCCATGCTTGCCAAGTGTAGTCCGGGTTGCTTCCCACAGCACAGCTCCCACCCCAAACCTTAACGAGCCCAGAGGCGGAGACTTAGGGCCTTGGGAAAAGTGCAGATGGCCCAAGCTGTAGGGAGCTGCCCTGGGGGCTACCCATGTCGAGTCCCACTAGCCTGGGATCCCCGTGAATGCAGTAGTGGTGGCAGGGGTCTCGGAATCACAGCTTGAGCAGGGGATAGTCCTGGTCCTGGGCGTTGTTTCTTCAGCGCCCTTCCCAGCCAAGAAGGGGCAGCCTGAACGCTGCAGATTAAAAGTGGGATCCACAAGACATTTTGCTAATCTCTTTAGCCAGGTTCATCCCATTAGATAAAGCCATGCCACTCTCAAAACATGGTCAAAAGCAGCCTCCAGGTACATGCTGAACCAGAAAGCTCTGGGTACAGCTTGGAGAATCAGGAGCAAAGGGCAAGACTGGCCAGAAGAATGGGCTGTATCTGGATGTCTGGCTCAGACCGTGTTGCTCCCCAAAAGCATATTTCCAGGCCAATCTCCTTCAACATTTAAAACTTTCTGTAGGACAAATAAATTGTTATCCTCTCTGAGAAAAGAAATGACAGGGCCAGGCACAGTGGATCACGCCTATAATCCCAGCACTTTGGGAGACCAAGTTGGGTGGATCACTTGAGCCCAGGAGTTCAAGACCAGCCTGGGCTACATAGGAAGACCCCATCTCCACACACACACACACACACACAAAAAAAAAAAAAAAAAAATTAGCTGGGTATGGTGGCATGCACCTGTAGTTCTCCCAGCTACTCTGGAGGCTGAGGTGGCAAGATCACCTGAGCCTGGGGAGTTCAAGGCTGCACTGAGCCATGATCGTGCCACTGCACTCCAGCCTGGGTGACAGAGTGAGGCCCTGTCTCAAATTTTAAAAAGACAAAGAAAAGAAGAGAAGAAGGAAGGAAAGAAAGAAAGTGACAGATCGTGAGAAAACATTTGCAACTTGTAAAATTAAAAAGTAATATACAGTGGCCAGGCATGGTGGCTTATGCCTGTAATCCCAGTACTTTGGGAGGCCAAGGCAGGTGGATCGCTTGAGCCCAGGAGGTGGAGGTTGCACTGAACTGAGATCCCCACATTGCACTCCAGCCTGGGTGACAGTGAGACTCTGTCTGGAAAAAAAAAAAAAAGAATTAATATGCAAAAATGTTTTAAGTCTCACAAATTCACAATAAACAAAAATTCACAATCAAAAGACCAATAATCAACTGGAAAAATAGGCAAAAACCAGGAACAGACAATTCATAATTAGGAAACTTGAAAAGTCCAATAATCTGGAAAAGATCTCAACTTGGGTAATAAGCAGGAAAATGCAAATCCAAACAACAATAAAATACCAAACTTGGCCGGGCACAGTGGTTCACACCTGTAATCCCAGCAGTTTGGAAGGCCAAGGTGGGTGGATCACTTGAGGTCAGGCATTCAAGACCAGCCTGGCCAACATGGTGAAACCCTGTCTCTACTAAAAATACAAAAATTGTCTGGGTATGGTGACAGGCACCTGTAATCCCAGTTACTTGTGAGGCTGAGGAAGGAGCATCAATTGAACCCGGGAAGTGGAGGTTGCAGTGAGCCAAGATTGCGCCATTGCACTCCAGCCTGGGTGACAAGAGTGAAATGACGTCTCAAAAAAAGAAAAAGACCAAACTCGATCCATCAAATTGAATGTATGTCAAAATTCTGTCACCATACATCAACAAAGAGAGTGGAAGTAGAAGTGTACACTCTTGGTGAATCTGTACATTTATTATTATTATTAATTAATGGATTATTTCTTACAGTAGTTTTAGGTTTACAAAAAAATTGAACAGAAAATACAGGGAGTTCCCATTATTCTCCATCTCCCCAACCAGTTTCTCCTCTAATTAATATCTTGCATTAATGTGGTACATTTGTTACAATTAATGAACCAATATTGATGCACTATTATTAACTAAAGTCTATAGTTTACATTAAGGTTCAGTCTTTGTGCATATAATTCTGTCACTTTTGCCAAATGCA
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GGAAATGATAGAGGAAAAGATGAAAAGCCCCTTCTCTGTGAGCCTCTGCTCACAGAGGCTGGTTCTACCATCGGCCTCTCCCACTCCCCAGAATTCTGCTTGTCCCCCTGGCTTCATGCCCTCCTCGGGAGATTTATGTAAATCGTGGCATCTTGTGCTGCCCCTGCAGACCTGTCACCTGGGAAGGGCACAGCCCTTTACAATCCTCTCCTGACTGGGGATTTGCAGCAGTAATCTCCATCCACAAGAAAATAAAATCCCAAGAAGTGACCTTCACTTGGACGTCCCTTCCATCTGCAGGGCAGATATAAGCTAGCTATTTGGGCGTCATTAATGTTGTTTTGGGCTTCAAACATGTCCTGCTGCTGGTGCCAATGCCCTGAGTTCAAGTTCCCTTTGGACTTGCCAGCCTCACTGGGAAGAAAAAAAAACCACCCTTAGGAATAACTGAACCCCTAACCTCAGCCAGGTAGGGTCGAGTCAGACAGAAAGAAGAGGTGAGGGAAAGCGGCTGCCTCAAGGCAGGCTGCCCTTTCCCTGAAAAGTCACTCGAGCCCCAGGTTGGTGGGTGTGTTGGGAAGAGCAGCCCGCTGGAGCCAGTGCACAGGCTGTTCCCTCCGACACAGTGGTCGAGAGTCTCTCTCTCACCAGCACCTCCCACAGCCCATCGCAGCATTTTACTTTTACATATGCCAAGAATACTTTAGAAATGCTTTATCACATTGCACTATCATGACTCGCTAAGTAAACACCAGCAAGCATTTAATGAGTACCTGCTGCATGCCAGCTACCAGGCAGGGCTAGGAGGTGACTTCCAAAATTACCTATTCTATTCCAGTGCTCATTTAAAAGATGGGCAAGCCAAAGCGCAGAGTGACTAGTGACCTGCCCAAGGTCACAAGACCTTGAACAACAGAACCAAAACTTCACCCTAGATCTCATGACTTCCCCTTCCTATGCTCTTTCCAACATATCCAGACAAACATCTTGGGAATGGATGCTCAGGGTTGAAAGGTTGGAAAACAAGGGAACTAACTAGGAAATTTAAACTTCTGGGACTGAATCCATCTACTTTGAATGAATGGGACAAATAGCCAAATAGTACCTCAGTGTTTGTGATCTATGAATGACTTCCATCCCTCTGTATAAAGTGGACACACATTGCTGCCTGGCTCTTCATCCCAAGGGGCTCCTATCCAAACAGCTTATATAAATTGATACCTTCCTACCACCTTAGCCAATGTTAGGTTGAACCCTATGAAGTTGTCATTTTTTATGGGTCAAAGAGGTAGAATATTAGCAATTTCATATGGTTCCACCTGATACACCCTCACATACGCAGCAATAAGTTGTGCACCCGATGGAGAGGAAAAGGCACTGGGTGCGGGGAGAGGGGCTGGTCAGAGGCCTGAGCCTCAGTGTCCCCAATATATTCATAGCTCTGACCCCAGGACTGGAAGCCACTCACTCTTTGACTTCTTTGGAGGAAAAGTCCAGGTAGCGATTGCTGATCCACTGAATCTCAAACCAGTCCCGAAAACCGTTGTTGCCGCAGCATTTGAACTCGATCTGCAGCATGTCGATGGTCTTCTTCATGAAACACCTGCCAGGGGTGTCTGTGTCCCGGTAGTACTTCATGCCGTTCTTGAGCCCTTGGCCCAGGGTGTTCTCCAGCGAGCCCCGAAGCAGAAAGCAGCAGAGAGCCACAAGGAAGAGGATGATGTTGAAGAGAACACAGATAGCCAGGTACGGCTTCAGCCAGGGCTTCCATCTGGCATACTTGGCTGGGTCCAGGGCGTCGTAGCAGATCTTCCCAGCCAGCGAGTTGAAGACACAGGATAGCACCCCCATCCCTATCAATGAGTTGGGCACAAAATGGCTCTCAGAATTATTCATCACATCGCTCCTCTTTCGGAGTTCAATCTTCAGGAACAGTCCTAGGCTGAAGATGATGATGCCAGCCAACACGGAGAACCAGTTCATGAGCCAGAGCCCTTGGGCCAACTTGACCCGCTTCTTCTGGTCAAACTTGACTTTCAGTAGCGCCAAGCTTGCCAAGTGTAGTCCGGGTTGCTTCCCACAGCACAGCTCCCACCCCAAACCTTAACGAGCCCAGAGGCGGAGACTTAGGGCCTTGGGAAAAGTGCAGATGGCCCAAGCTGTAGGGAGCTGCCCTGGGGGCTACCCATGTCGAGTCCCACTAGCCTGGGATCCCCGTGAATGCAGTAGTGGTGGCAGGGGTCTCGGAATCACAGCTTGAGCAGGGGATAGTCCTGGTCCTGGGCGTTGTTTCTTCAGCGCCCTTCCCAGCCAAGAAGGGGCAGCCTGAACGCTGCAGATTAAAAGTGGGATCCACAAGACATTTTGCTAATCTCTTTAGCCAGGTTCATCCCATTAGATAAAGCCATGCCACTCTCAAAACATGGTCAAAAGCAGCCTCCAGGTACATGCTGAACCAGAAAGCTCTGGGTACAGCTTGGAGAATCAGGAGCAAAGGGCAAGACTGGCCAGAAGAATGGGCTGTATCTGGATGTCTGGCTCAGACCGTGTTGCTCCCCAAAAGCATATTTCCAGGCCAATCTCCTTCAACATTTAAAACTTTCTGTAGGACAAATAAATTGTTATCCTCTCTGAGAAAAGAAATGACAGGGCCAGGCACAGTGGATCACGCCTATAATCCCAGCACTTTGGGAGACCAAGTTGGGTGGATCACTTGAGCCCAGGAGTTCAAGACCAGCCTGGGCTACATAGGAAGACCCCATCTCCACACACACACACACACACACAAAAAAAAAAAAAAAAAAATTAGCTGGGTATGGTGGCATGCACCTGTAGTTCTCCCAGCTACTCTGGAGGCTGAGGTGGCAAGATCACCTGAGCCTGGGGAGTTCAAGGCTGCACTGAGCCATGATCGTGCCACTGCACTCCAGCCTGGGTGACAGAGTGAGGCCCTGTCTCAAATTTTAAAAAGACAAAGAAAAGAAGAGAAGAAGGAAGGAAAGAAAGAAAGTGACAGATCGTGAGAAAACATTTGCAACTTGTAAAATTAAAAAGTAATATACAGTGGCCAGGCATGGTGGCTTATGCCTGTAATCCCAGTACTTTGGGAGGCCAAGGCAGGTGGATCGCTTGAGCCCAGGAGGTGGAGGTTGCACTGAACTGAGATCCCCACATTGCACTCCAGCCTGGGTGACAGTGAGACTCTGTCTGGAAAAAAAAAAAAAAGAATTAATATGCAAAAATGTTTTAAGTCTCACAAATTCACAATAAACAAAAATTCACAATCAAAAGACCAATAATCAACTGGAAAAATAGGCAAAAACCAGGAACAGACAATTCATAATTAGGAAACTTGAAAAGTCCAATAATCTGGAAAAGATCTCAACTTGGGTAATAAGCAGGAAAATGCAAATCCAAACAACAATAAAATACCAAACTTGGCCGGGCACAGTGGTTCACACCTGTAATCCCAGCAGTTTGGAAGGCCAAGGTGGGTGGATCACTTGAGGTCAGGCATTCAAGACCAGCCTGGCCAACATGGTGAAACCCTGTCTCTACTAAAAATACAAAAATTGTCTGGGTATGGTGACAGGCACCTGTAATCCCAGTTACTTGTGAGGCTGAGGAAGGAGCATCAATTGAACCCGGGAAGTGGAGGTTGCAGTGAGCCAAGATTGCGCCATTGCACTCCAGCCTGGGTGACAAGAGTGAAATGACGTCTCAAAAAAAGAAAAAGACCAAACTCGATCCATCAAATTGAATGTATGTCAAAATTCTGTCACCATACATCAACAAAGAGAGTGGAAGTAGAAGTGTACACTCTTGGTGAATCTGTACATTTATTATTATTATTAATTAATGGATTATTTCTTACAGTAGTTTTAGGTTTACAAAAAAATTGAACAGAAAATACAGGGAGTTCCCATTATTCTCCATCTCCCCAACCAGTTTCTCCTCTAATTAATATCTTGCATTAATGTGGTACATTTGTTACAATTAATGAACCAATATTGATGCACTATTATTAACTAAAGTCTATAGTTTACATTAAGGTTCAGTCTTTGTGCATATAATTCTGTCACTTTTGCCAAATGCA
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Task1_train_10331
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This gene mutation involves CNPY3, CNPY3-GNMT (canopy FGF signaling regulator 3| CNPY3-GNMT readthrough) on Chromosome 6. Is it associated with any clinical condition, or is it benign?
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Pathogenic; Developmental and epileptic encephalopathy, 60
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AGGTTGGATTCGGGATTGTCCTTCATCCGCTCTGGGGTCAGGCCTGCATGTATCTTAGTGTGTCTGCTGGTGTGAGTGTGATTTGAAGATGACCACCTGGGATCTTCCTTCATTGCCTCTTCCCATTCTTTGATTGCCGTTTGTGCTCCTCCCCTCTTGAGTGGCCTCATTTTTCAGGCACATGCATGAGGGTCTGGGCCTGTTCATGAGGGTCCTGCTTCAATCTCAGACACAGGCAGAAATGCTCCACAGTTGCTGCCCCCGTGGGAACCTAAAGACACTAGAACGGGGAGAACTCAGCAAGATCCACGATGTGCAGAAAGGTGGGGGTTTAGGCGAGGTGTCAGAGGACACCTCGGTGGGAGTGACTGCCCAGTCCCATCTCTGGGTCCACACAGCACCTCCCACAACCCCGCTGGGATGCCCTTGTGATGGCCCATGTACTCAGTATGTGTACGAGTGCTTTTCTCTCTGGAGAATGAGCTGCTTACAACAAGGCCCATAGTTCTTACTCTCTACATCTTCAGTGCCTGGCACAGGGTAAGATAGTTGCCACCCACATTTTTCTACCTAAGTTTCCTTCTAGCAAAGGATACCATTCATAAACTCCTGGGATACCTAAGGGAATAGTCTCAAGCAGCAGAAATTTGTATGAATTTTGCACTCAGTAATAAATCTGTGTTTGCTTTAATAAAAAGTGTTTAAGAATTATTTTTCATAGCAGGAAAAAAATGAGAAACAATCTAACTCTACCAATAGGGGATTAAATACGTTGATCCAGCCGTTTGGTGGACTAGTATGCGGCTGGAAACGAAGCATGGGGAGGCTCTTTAGGAACTGAATTCAATTGATTTTCAAGGTTTTTGTGTGTTTGTTTGTTTTGGAGACAGAGTCTCACACTCTGTTGCCCAAGCTGGAGCGCAGTGGTGCGATCTCAGTTCATTGCAACCTCCACCTTCCAGATTGAAGCTATTCTCCCACCTCAGCCTCCTGAGTAGCTGGGATTACAGGCACCGACCACCACGCCCGACTAATTTTTGTGTTTTTTAGTAGAAACGGGGTTTCACCATGCTGGCCAGGGGGTCTCGAACTCCTGACCTCAGGTGATCAGCCCACCTTGGCCTCTCAAAGTGCTGGGATTACAGGCATGAGCCACTGCACCCAGCCCTTCAAGGTATAAGTAAAAAGGGCAAGTGCAAAATAGTGTGTATGCTATACCACTGCTTGTGTAAAAAGGCGGGGGGAGGATATATTTAGATATTGGTATTTGTATGAGTTATCTCTGGGAAAATAGAGGAAATGGATAGTATGTTTTCTCTGGGGATAAGACCTAGGCAGCTAGCAGAGATAGTTTTTACAGAATAAAGGGTCTACCTGCCTCAGCTATGCCTTTTTCCCACTGAGGAAAGACACAACCCAGGAAGAACGGAACAGCAGGTCTGGATGATATGGGAGTGTTTCCAGCCATAGTGAGGGGAAAGAGCTAAGACAAACCTATTTCCTGGAAAAGAAGCATAAAGCCAAAGGGCCTGAGGGCAGCCGCAGGTCTTTTTGAAGCGATGAGGTGTGCAGAGGCAGATCAGGGGGTATATGTGCAGGGGTTGTGGGAAGCAGGCCTAAAAGAGGGAAGAGGAAGGTCAGGTCAAGGATGAGGCCAGGTGCGGTGGCTCACGCCTGTAATCTCAGCACTTTGGGAGGCTGAGGTGAGTGGAAAACTTGATGCTAGGAGTTCGAGACCAGCCTGACCAACATGACAAAACCCCAACTCTACAAAAATTAGCCGGGTATGGTGGCACGCCTTTGTAGTCCCAGCTGCTTGGGAGGCTGAAGCAGGAAAATCGCTTGAACCTGGGAGGCAGAGGTTGCAGTGAGCTGAGACGCTCCAACCTGGGCGACAGAGTGAGACTCCTTCTCAAAAAAAAAAGGATGAGGATCCTTAGAGGGCGTTGAGCATTGGTCTTATAGCTGGGTTCTTAGCCACCACTGGGAGACGAGGGTGGGAGGGAGAGAAGGGAGCTCCGCCTGCCATATCTGGTCGCTTCTTCCAGGGCATGTCAGAGACCTTTGAGACATTACACAACCTGGTACACAAAGGGGTCAAGGTGGTGATGGACATCCCCTATGAGCTGTGGAACGAGACTTCTGCAGAGGTGGCTGACCTCAAGAAGCAGGTACAGGCCCTTCAGCCCTTGGAAGGGTTGCTGTGCCCAGTGAGGGGCTGGTGGGGATTGGGTCTGCTCTGAGGAAGTCCACCCAGGCCGGGGTGGCTTTGGTCAGGTCATTTCACCTCTCTGGCCTCAGTTTCCTTAGGTGAACCGCTGCCACTGCCTACCTTGCAGTGGGTTGCGAGGCTTAGCTGAGCTCCTCTAGGAGCGAGTCAGGTGCTGGGGCTTTGCCAATATGAGGTATTATGATTAACAGTGTGATGTGCTGGTGGAAGAGTTTGAGGAGGTGATCGAGGACTGGTACAGGAACCACCAGGAGGAAGACCTGACTGAATTCCTCTGCGCCAACCACGTGCTGAAGGGAAAAGACACCAGTGAGTTTGGGGAAGCAAGGGCAGGCTGGCTCTGGATGATTTGTTTGCTCTCCCTTGGGGGAGGTGGGTAGGAGGAGAAACAGAGGGCACCAGAGGGCATTGTAGGATCTCTGCCCTTGAAAGGCTTGATTGGCAAGACATGGTGAAGTAAGAGTCACTGAAACCAGGTGCAGAATGATGGGCAGACAAGTCAGATGCCCCCAGAGGGGCCTGGTGGCCACAGCGAGAGGCAGGAGGCAGGGAGGCTGATGTCAAGCACAGTCCCAGTTGCTACTCCCACGGCTCCCTGCTCAGTGCTCCTTGCCCAGCACCCCAGCCCTGAGGCACTTCTGTTGAGGGTCTCTCTCCTCCACACCCTAGGTTGCCTGGCAGAGCAGTGGTCCGGCAAGAAGGGAGACACAGCTGCCCTGGGAGGGAAGAAGTCCAAGAAGAAGAGCAGCAGGGCCAAGGCAGCAGGCGGCAGGAGTAGCAGCAGCAAACAAAGGAAGGAGCTGGGTGGCCTTGAGGGAGACCCCAGCCCCGAGGAGGATGAGGGCATCCAGAAGGCATCCCCTCTCACACACAGCCCCCCTGATGAGCTCTGAGCCCACCCAGCATCCTCTGTCCTGAGACCCCTGATTTTGAAGCTGAGGAGTCAGGGGCATGGCTCTGGCAGGCCGGGATGGCCCCGCAGCCTTCAGCCCCTCCTTGCCTTGGCTGTGCCCTCTTCTGCCAAGGAAAGACACAAGCCCCAGGAAGAACTCAGAGCCGTCATGGGTAGCCCACGCCGTCCTTTCCCCTCCCCAAGTGTTTCTCTCCTGACCCAGGGTTCAGGCAGGCCTTGTGGTTTCAGGACTGCAAGGACTCCAGTGTGAACTCAGGAGGGGCAGGTGTCAGAACTGGGCACCAGGACTGGAGCCCCCTCCGGAGACCAAACTCACCATCCCTCAGTCCTCCCCAACAGGGTACTAGGACTGCAGCCCCCTGTAGCTCCTCTCTGCTTACCCCTCCTGTGGACACCTTGCACTCTGCCTGGCCCTTCCCAGAGCCCAAAGAGTAAAAATGTTCTGGTTCTGATTTCTGAGTCCTCTGCAGCCCTCAGAGGTGCCCTGGAGCCTCTTGTTCTTTCCTGCCCCTCGCCTTCCAGCCCGTGGGGCTGAGGAGGGGAAGGCTAAAACCCACCCACTCTCGGGAGCAGCAAGTGCTGGGAAGGCCCAGGGTTGTCTTGGGGTGAGGGGAGGCATGGGCATAGGATGAGGCCCAGGGCAGTGCACTGACCTTACGCTGCTCCCTCGTGTCCTGGACACCTGGCTGCCGTTCCCTCCCTCCCTCTCTCCTGCTGCTCCTCTTCCCAAGGCCTCCCATTTGTTGTGTAAAATGCAGTGTTTACCTGGCCAGCTCCCGCCCCTGTTCCTACTTCCACCTGGCCTTGACTGTTGGTCCTGAACCTTGTTTTCTGATGACCACACTTGATCACTCTGAGGTTCCTAGCTGTTGTACCTGGAGTGCAGTTGGGAGGACACCCGGTTCCCAACACCATCTGGTCACACCATGTTCCTCAGGGCCAAGGGAGGAGCA
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AGGTTGGATTCGGGATTGTCCTTCATCCGCTCTGGGGTCAGGCCTGCATGTATCTTAGTGTGTCTGCTGGTGTGAGTGTGATTTGAAGATGACCACCTGGGATCTTCCTTCATTGCCTCTTCCCATTCTTTGATTGCCGTTTGTGCTCCTCCCCTCTTGAGTGGCCTCATTTTTCAGGCACATGCATGAGGGTCTGGGCCTGTTCATGAGGGTCCTGCTTCAATCTCAGACACAGGCAGAAATGCTCCACAGTTGCTGCCCCCGTGGGAACCTAAAGACACTAGAACGGGGAGAACTCAGCAAGATCCACGATGTGCAGAAAGGTGGGGGTTTAGGCGAGGTGTCAGAGGACACCTCGGTGGGAGTGACTGCCCAGTCCCATCTCTGGGTCCACACAGCACCTCCCACAACCCCGCTGGGATGCCCTTGTGATGGCCCATGTACTCAGTATGTGTACGAGTGCTTTTCTCTCTGGAGAATGAGCTGCTTACAACAAGGCCCATAGTTCTTACTCTCTACATCTTCAGTGCCTGGCACAGGGTAAGATAGTTGCCACCCACATTTTTCTACCTAAGTTTCCTTCTAGCAAAGGATACCATTCATAAACTCCTGGGATACCTAAGGGAATAGTCTCAAGCAGCAGAAATTTGTATGAATTTTGCACTCAGTAATAAATCTGTGTTTGCTTTAATAAAAAGTGTTTAAGAATTATTTTTCATAGCAGGAAAAAAATGAGAAACAATCTAACTCTACCAATAGGGGATTAAATACGTTGATCCAGCCGTTTGGTGGACTAGTATGCGGCTGGAAACGAAGCATGGGGAGGCTCTTTAGGAACTGAATTCAATTGATTTTCAAGGTTTTTGTGTGTTTGTTTGTTTTGGAGACAGAGTCTCACACTCTGTTGCCCAAGCTGGAGCGCAGTGGTGCGATCTCAGTTCATTGCAACCTCCACCTTCCAGATTGAAGCTATTCTCCCACCTCAGCCTCCTGAGTAGCTGGGATTACAGGCACCGACCACCACGCCCGACTAATTTTTGTGTTTTTTAGTAGAAACGGGGTTTCACCATGCTGGCCAGGGGGTCTCGAACTCCTGACCTCAGGTGATCAGCCCACCTTGGCCTCTCAAAGTGCTGGGATTACAGGCATGAGCCACTGCACCCAGCCCTTCAAGGTATAAGTAAAAAGGGCAAGTGCAAAATAGTGTGTATGCTATACCACTGCTTGTGTAAAAAGGCGGGGGGAGGATATATTTAGATATTGGTATTTGTATGAGTTATCTCTGGGAAAATAGAGGAAATGGATAGTATGTTTTCTCTGGGGATAAGACCTAGGCAGCTAGCAGAGATAGTTTTTACAGAATAAAGGGTCTACCTGCCTCAGCTATGCCTTTTTCCCACTGAGGAAAGACACAACCCAGGAAGAACGGAACAGCAGGTCTGGATGATATGGGAGTGTTTCCAGCCATAGTGAGGGGAAAGAGCTAAGACAAACCTATTTCCTGGAAAAGAAGCATAAAGCCAAAGGGCCTGAGGGCAGCCGCAGGTCTTTTTGAAGCGATGAGGTGTGCAGAGGCAGATCAGGGGGTATATGTGCAGGGGTTGTGGGAAGCAGGCCTAAAAGAGGGAAGAGGAAGGTCAGGTCAAGGATGAGGCCAGGTGCGGTGGCTCACGCCTGTAATCTCAGCACTTTGGGAGGCTGAGGTGAGTGGAAAACTTGATGCTAGGAGTTCGAGACCAGCCTGACCAACATGACAAAACCCCAACTCTACAAAAATTAGCCGGGTATGGTGGCACGCCTTTGTAGTCCCAGCTGCTTGGGAGGCTGAAGCAGGAAAATCGCTTGAACCTGGGAGGCAGAGGTTGCAGTGAGCTGAGACGCTCCAACCTGGGCGACAGAGTGAGACTCCTTCTCAAAAAAAAAAGGATGAGGATCCTTAGAGGGCGTTGAGCATTGGTCTTATAGCTGGGTTCTTAGCCACCACTGGGAGACGAGGGTGGGAGGGAGAGAAGGGAGCTCCGCCTGCCATATCTGGTCGCTTCTTCCAGCGCATGTCAGAGACCTTTGAGACATTACACAACCTGGTACACAAAGGGGTCAAGGTGGTGATGGACATCCCCTATGAGCTGTGGAACGAGACTTCTGCAGAGGTGGCTGACCTCAAGAAGCAGGTACAGGCCCTTCAGCCCTTGGAAGGGTTGCTGTGCCCAGTGAGGGGCTGGTGGGGATTGGGTCTGCTCTGAGGAAGTCCACCCAGGCCGGGGTGGCTTTGGTCAGGTCATTTCACCTCTCTGGCCTCAGTTTCCTTAGGTGAACCGCTGCCACTGCCTACCTTGCAGTGGGTTGCGAGGCTTAGCTGAGCTCCTCTAGGAGCGAGTCAGGTGCTGGGGCTTTGCCAATATGAGGTATTATGATTAACAGTGTGATGTGCTGGTGGAAGAGTTTGAGGAGGTGATCGAGGACTGGTACAGGAACCACCAGGAGGAAGACCTGACTGAATTCCTCTGCGCCAACCACGTGCTGAAGGGAAAAGACACCAGTGAGTTTGGGGAAGCAAGGGCAGGCTGGCTCTGGATGATTTGTTTGCTCTCCCTTGGGGGAGGTGGGTAGGAGGAGAAACAGAGGGCACCAGAGGGCATTGTAGGATCTCTGCCCTTGAAAGGCTTGATTGGCAAGACATGGTGAAGTAAGAGTCACTGAAACCAGGTGCAGAATGATGGGCAGACAAGTCAGATGCCCCCAGAGGGGCCTGGTGGCCACAGCGAGAGGCAGGAGGCAGGGAGGCTGATGTCAAGCACAGTCCCAGTTGCTACTCCCACGGCTCCCTGCTCAGTGCTCCTTGCCCAGCACCCCAGCCCTGAGGCACTTCTGTTGAGGGTCTCTCTCCTCCACACCCTAGGTTGCCTGGCAGAGCAGTGGTCCGGCAAGAAGGGAGACACAGCTGCCCTGGGAGGGAAGAAGTCCAAGAAGAAGAGCAGCAGGGCCAAGGCAGCAGGCGGCAGGAGTAGCAGCAGCAAACAAAGGAAGGAGCTGGGTGGCCTTGAGGGAGACCCCAGCCCCGAGGAGGATGAGGGCATCCAGAAGGCATCCCCTCTCACACACAGCCCCCCTGATGAGCTCTGAGCCCACCCAGCATCCTCTGTCCTGAGACCCCTGATTTTGAAGCTGAGGAGTCAGGGGCATGGCTCTGGCAGGCCGGGATGGCCCCGCAGCCTTCAGCCCCTCCTTGCCTTGGCTGTGCCCTCTTCTGCCAAGGAAAGACACAAGCCCCAGGAAGAACTCAGAGCCGTCATGGGTAGCCCACGCCGTCCTTTCCCCTCCCCAAGTGTTTCTCTCCTGACCCAGGGTTCAGGCAGGCCTTGTGGTTTCAGGACTGCAAGGACTCCAGTGTGAACTCAGGAGGGGCAGGTGTCAGAACTGGGCACCAGGACTGGAGCCCCCTCCGGAGACCAAACTCACCATCCCTCAGTCCTCCCCAACAGGGTACTAGGACTGCAGCCCCCTGTAGCTCCTCTCTGCTTACCCCTCCTGTGGACACCTTGCACTCTGCCTGGCCCTTCCCAGAGCCCAAAGAGTAAAAATGTTCTGGTTCTGATTTCTGAGTCCTCTGCAGCCCTCAGAGGTGCCCTGGAGCCTCTTGTTCTTTCCTGCCCCTCGCCTTCCAGCCCGTGGGGCTGAGGAGGGGAAGGCTAAAACCCACCCACTCTCGGGAGCAGCAAGTGCTGGGAAGGCCCAGGGTTGTCTTGGGGTGAGGGGAGGCATGGGCATAGGATGAGGCCCAGGGCAGTGCACTGACCTTACGCTGCTCCCTCGTGTCCTGGACACCTGGCTGCCGTTCCCTCCCTCCCTCTCTCCTGCTGCTCCTCTTCCCAAGGCCTCCCATTTGTTGTGTAAAATGCAGTGTTTACCTGGCCAGCTCCCGCCCCTGTTCCTACTTCCACCTGGCCTTGACTGTTGGTCCTGAACCTTGTTTTCTGATGACCACACTTGATCACTCTGAGGTTCCTAGCTGTTGTACCTGGAGTGCAGTTGGGAGGACACCCGGTTCCCAACACCATCTGGTCACACCATGTTCCTCAGGGCCAAGGGAGGAGCA
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Task1_train_10332
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The gene CNPY3-GNMT, GNMT (CNPY3-GNMT readthrough| glycine N-methyltransferase) is located on Chromosome 6, where a mutation has occurred. What is the medical relevance of this mutation?
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Pathogenic; Glycine N-methyltransferase deficiency
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CTCCCAAGTAGCTGGGATTACAGGCACGTGCCACCATGCCTGGCTAATTTTTGTATTTTTAGTAGAGACAGGGTTTTAGCATCTTGGCCAGGCTGATCTTGAACTCCTGACCACGTGATCCACCTGTCTTGGCTTCCTAAAGTGCTGGACAGTTTGATTTTTAAAGGCTAAACCTCCCCAGGCTCCAAGGAGCACTGGGGCCAAACAGTACCAAAGGAGAGCATCACCCGTTAACCAGGCCCCCTGCTTAGAAGAGTAGCACAGACCGGGCGCTGTGGCTCACACCTATAATCCCAGCACTTTGGGAGGCCGACGCCAGTGGATCACGAGGTCAGGAGTTTGAGACCAGCCTGACCAACATGGTGAAACCCTGCCTCTTCTAAAAATACAAAAATTAGCCGGGCGTGGTGGTGAGCGCCTGTAATACCAGCTACTCAGGAGGCTGAGGCAGGAGAATTGCTTGAATCTGGGAGGCGGAGATTGCAGTGAGCTGAGATTGCACCACGGCACTCCAGCCTGGCGACAGAGCGAGACTGTGTCTCAAAACAAAAACAAAAACAAAAAAAAACCCTGCAGTTGCTTCCATGTTTAGGCGCTGCCCACCAAGGGTCCCAAGTTGGAAAGGAAGGAGGAGAGAGGCAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAAGCGCGAGAGCGGCCCTGTAATTGAGCAGAAAGGAAAGGGAGAAAAATGAATCCCAAACTTTGGGCTTACCTCTTTCTGCTGGCTGGCTCGCCAAAATATGTTAACGGTAGAGGATGTCCAGGTTCTTGGCATCTTGAACAAACAATTGGACAAAATGCACAAACAAAGCAAGAAAGGAATGAAGGATTTTATTGAAAATGAAAGTACACTCCACAGTGTGGGAGCGAGCATGAGCATAGGGGCTCAAAGGCCCTGTTACATTTTGTGAGTTTAAATACCCTCTACTTGGGGTACACCCTATGTAAATGAAGAGGATGAAGTAAAGTTACAGTTACAAAGTTATTAATGGCGGGCATACGCCCTATGGAGAGGATATTTCCCGTTATAACTGAAGTGTGAATTGGCCTTATGTTCCCTGTCTCTAGACCCTATTCTCCTGCTTCCTGTGAAAGCAGAGGGTTTTGTTTGTTTTTTGCTTTTTGTTTTTTGAGACGGAGTCTTGCTCTGTTGCCCAGGCTGGAGTGCAGTGGTGCACTCGGCTCACTGCAACTTCCGCCTTCCCGGGTTCAAGCGATTCTCCTGGCTCAGCCTCCGGAGTAGCTAGGACTACAGGCGCGTGTCACCATGTCCCAGCTAATCTTTCTTTATTTTTAGTAGAGACGTGTTAGCCAGGTTTCACCGTGTTACCGTGTTACCGTATTCCAGCCGGGCTCCGCCCCTGGATTCGGTGGACAGACCAGCTTTACCTCCAGAGACTCCCCCTGTCTTCCCTGCACCGGCTGACTATACCTACACACTTCGGTGGCACAATCTTTGTTTAGATATGCTGATGCCTTCCTTCGCTGGGAACGGTCCAGTCCTGCCCGCCTGGCGCTCAGCTCTGCGGATCTCAGGGGATGGAGTGGCAATCTCATTGCTCCCGCCTCTCCTGACCCCTCTCGCCTTCTCCTCGAGACCCGGGTTAAGTGGGCAGAGGGCTCCGAGGGTCCTCTCCCGCCGTGGGATTGCACAGAGGGCTGGGTCCGCAGGCTGGCTAAAAGGACCTAGCCCAGGATTGCGAGGCAGCGCCCTCCCTGCAGCTGGACAGACTCGGGCGCCCGGCCCAAAGCCCGGCAGGGGCGTGTCCGCGCGCTCACCTGCTATTGGCCAGGTGGGGCTGTCGGCTGCCAGCAGTGCTTATGCTTTAAGTGCGGAGCGGGTGGCTGCGGAGCCAGGCGCGGCGCAGGATGGTGGACAGCGTGTACCGGACCCGCTCCCTGGGGGTGGCGGCCGAAGGGCTCCCGGACCAGTACGCGGACGGGGAGGCGGCGCGCGTGTGGCAGCTGTATATCGGAGACACCCGCAGCCGCACCGCCGAGTACAAGGCATGGCTGCTTGGGCTGCTGCGCCAGCACGGCTGCCAGCGGGTGCTCGACGTAGCCTGTGGCACTGGGTGAGCCCAGGCCGGGGCCGGGGGCGTTGCATGAGATCGGGGTCTGTCTCAGCCTGTACTGCGCGGCCGCAGAACCACAGGGCCGGGCACGTCAGGGCGGCCTTTGCCAATCCTGGAACGGGTGGGACACCAGGGCCAGGAGCAGGTACCTGCCCGGCAGAACAGGCACTGCGAGTGCCCCGTGAGGCTAGGGGTCCAGGTAGCGGTTCGCAGGGAGAGGCCCCGGAGAAGGGAGACTGAGTGTGAGTGAGGGTGTGGGCAGAAAAAGTGAGCGTCCCTGAGGCTTTGGAGCCAGAGCCACGGACAGATTGCAAATATTCCTCCTGTGATGGCCTTGGGCAGTGTTAACAGTTAACATTGCTCAACATTTGCACCTGCCAAGCCCAGTGCCAGGAGCTTTTGATACATCACTTTTTCAAACCCTCACAAAGCCCCATGAAGTTAAGCAGTGATATTCTCTCATTTACTACTGGGGAAGTAAGGCCTCAGCAAAGTAAAATTCCCTCATACATCATCCAGTGAAAAGGAGCTAACAGGCCCGGGTTGGTTAAGATCTGTCCTGTGCTCTATTTTTCTCTTTTTTTTTTTTTTTTTTTTTGAGATGAAGTCGTGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCTCCATCTCGGCTCACTGCAAGCTCCGCCTCCTGAGTTCATGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCGCCTGCCACCACGCCCAGCTAATATTTTGTATTTTTAGTAGAGACGGGGTTTCGCCGTGTTAGCCAGGATGGTCTCGATCTCCTGACCTTGTGATCTGCCCACCTCGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCGCGCCCGGCTTTGTCCTGTGCTCTAAACCACCATGTTCTACTGCCTTTTGTGCACACGTATTTTAACTTCAAGGAGCCTCAGCTTGTCTGTCTCTCAAATGGGAATGACACTATTTACCTCTCAGGATTGCCATGAGAATTAATGCATATTTGTAGAGTGCCTGGCTCTGAAGAGGTGCTTTTAAAAAAAAGTTGCCTTGTGGTGACAGGAAACAGATTTGTGAGGTCAGTGGAGAGGGCCTGGGGAGAGGAGGCAGAGGAACGGACTCTGAGAAGTAGAGACAAAAGTGTCCAGTGCAGGGTCTCCTCCTGGCCCTCCCAGGCTCCCCTAACTGCCTCTCTCTGCCTCTCCTCGCTGGCCGTACTCAGGGTGGACTCCATTATGCTGGTGGAAGAGGGCTTCAGTGTGACGAGTGTGGATGCCAGTGACAAGATGCTGAAGTATGCACTTAAGGAGCGCTGGAACCGGCGGCACGAGCCCGCCTTCGACAAGTGGGGTATGCAGGTCTAGCCAGGCTCCCCCAGCCCAGTCACCAGGAACACTGTTCATTCTGCCTGGGGCTCCTTTAAGTGGGGGCGGGGGTGGAGTGTTGTGTTTTCCTCGGGGAGACAGAAAAATTACTGTCATTTCTCTGAAAAGCAAGTCTTAAGCTCCAGAATGAGACACCGGGTGTGAAGAGCTGGTTTTAACTGTGTTTGTGGCATCTTGTCCCTCCCCTCAAAGAAAAACCCATAAGCACAGAGCCCTCCTTCCCAACCAGGGTTCCTTCTCCCTTGATCCCTCTTTTCTCCTCCCCCTAACTGAACGGGGAGCTTGTGTGTCTTAAGAAGAAACCCAGGCAGGACTGCACTTGGTGGAGGTGGCTGCTACTGGTACCATCGTGCCTCCCTGATTCCTCTTTCTCTTCCTGACCCCTAGTCATCGAAGAAGCCAACTGGATGACTCTGGACAAAGATGTGCCCCAGTCAGCAGAGGGTGGCTTTGATGCTGTCATCTGCCTTGGAAACAGTTTCGCTCACTTGCCAGACTGCAAAGGTAAGAGAGGGTGTGGCCTTGGGCATGGCCCCCGCCTTGAGGCCCCCTTCCACAGACATCTGGCACCTGCTCTCCTGCCAAAGCA
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CTCCCAAGTAGCTGGGATTACAGGCACGTGCCACCATGCCTGGCTAATTTTTGTATTTTTAGTAGAGACAGGGTTTTAGCATCTTGGCCAGGCTGATCTTGAACTCCTGACCACGTGATCCACCTGTCTTGGCTTCCTAAAGTGCTGGACAGTTTGATTTTTAAAGGCTAAACCTCCCCAGGCTCCAAGGAGCACTGGGGCCAAACAGTACCAAAGGAGAGCATCACCCGTTAACCAGGCCCCCTGCTTAGAAGAGTAGCACAGACCGGGCGCTGTGGCTCACACCTATAATCCCAGCACTTTGGGAGGCCGACGCCAGTGGATCACGAGGTCAGGAGTTTGAGACCAGCCTGACCAACATGGTGAAACCCTGCCTCTTCTAAAAATACAAAAATTAGCCGGGCGTGGTGGTGAGCGCCTGTAATACCAGCTACTCAGGAGGCTGAGGCAGGAGAATTGCTTGAATCTGGGAGGCGGAGATTGCAGTGAGCTGAGATTGCACCACGGCACTCCAGCCTGGCGACAGAGCGAGACTGTGTCTCAAAACAAAAACAAAAACAAAAAAAAACCCTGCAGTTGCTTCCATGTTTAGGCGCTGCCCACCAAGGGTCCCAAGTTGGAAAGGAAGGAGGAGAGAGGCAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAAGCGCGAGAGCGGCCCTGTAATTGAGCAGAAAGGAAAGGGAGAAAAATGAATCCCAAACTTTGGGCTTACCTCTTTCTGCTGGCTGGCTCGCCAAAATATGTTAACGGTAGAGGATGTCCAGGTTCTTGGCATCTTGAACAAACAATTGGACAAAATGCACAAACAAAGCAAGAAAGGAATGAAGGATTTTATTGAAAATGAAAGTACACTCCACAGTGTGGGAGCGAGCATGAGCATAGGGGCTCAAAGGCCCTGTTACATTTTGTGAGTTTAAATACCCTCTACTTGGGGTACACCCTATGTAAATGAAGAGGATGAAGTAAAGTTACAGTTACAAAGTTATTAATGGCGGGCATACGCCCTATGGAGAGGATATTTCCCGTTATAACTGAAGTGTGAATTGGCCTTATGTTCCCTGTCTCTAGACCCTATTCTCCTGCTTCCTGTGAAAGCAGAGGGTTTTGTTTGTTTTTTGCTTTTTGTTTTTTGAGACGGAGTCTTGCTCTGTTGCCCAGGCTGGAGTGCAGTGGTGCACTCGGCTCACTGCAACTTCCGCCTTCCCGGGTTCAAGCGATTCTCCTGGCTCAGCCTCCGGAGTAGCTAGGACTACAGGCGCGTGTCACCATGTCCCAGCTAATCTTTCTTTATTTTTAGTAGAGACGTGTTAGCCAGGTTTCACCGTGTTACCGTGTTACCGTATTCCAGCCGGGCTCCGCCCCTGGATTCGGTGGACAGACCAGCTTTACCTCCAGAGACTCCCCCTGTCTTCCCTGCACCGGCTGACTATACCTACACACTTCGGTGGCACAATCTTTGTTTAGATATGCTGATGCCTTCCTTCGCTGGGAACGGTCCAGTCCTGCCCGCCTGGCGCTCAGCTCTGCGGATCTCAGGGGATGGAGTGGCAATCTCATTGCTCCCGCCTCTCCTGACCCCTCTCGCCTTCTCCTCGAGACCCGGGTTAAGTGGGCAGAGGGCTCCGAGGGTCCTCTCCCGCCGTGGGATTGCACAGAGGGCTGGGTCCGCAGGCTGGCTAAAAGGACCTAGCCCAGGATTGCGAGGCAGCGCCCTCCCTGCAGCTGGACAGACTCGGGCGCCCGGCCCAAAGCCCGGCAGGGGCGTGTCCGCGCGCTCACCTGCTATTGGCCAGGTGGGGCTGTCGGCTGCCAGCAGTGCTTATGCTTTAAGTGCGGAGCGGGTGGCTGCGGAGCCAGGCGCGGCGCAGGATGGTGGACAGCGTGTACCGGACCCGCTCCCTGGGGGTGGCGGCCGAAGGGCTCCCGGACCAGTACGCGGACGGGGAGGCGGCGCGCGTGTGGCAGCTGTATATCGGAGACACCCGCAGCCGCACCGCCGAGTACAAGGCATGGCTGCCTGGGCTGCTGCGCCAGCACGGCTGCCAGCGGGTGCTCGACGTAGCCTGTGGCACTGGGTGAGCCCAGGCCGGGGCCGGGGGCGTTGCATGAGATCGGGGTCTGTCTCAGCCTGTACTGCGCGGCCGCAGAACCACAGGGCCGGGCACGTCAGGGCGGCCTTTGCCAATCCTGGAACGGGTGGGACACCAGGGCCAGGAGCAGGTACCTGCCCGGCAGAACAGGCACTGCGAGTGCCCCGTGAGGCTAGGGGTCCAGGTAGCGGTTCGCAGGGAGAGGCCCCGGAGAAGGGAGACTGAGTGTGAGTGAGGGTGTGGGCAGAAAAAGTGAGCGTCCCTGAGGCTTTGGAGCCAGAGCCACGGACAGATTGCAAATATTCCTCCTGTGATGGCCTTGGGCAGTGTTAACAGTTAACATTGCTCAACATTTGCACCTGCCAAGCCCAGTGCCAGGAGCTTTTGATACATCACTTTTTCAAACCCTCACAAAGCCCCATGAAGTTAAGCAGTGATATTCTCTCATTTACTACTGGGGAAGTAAGGCCTCAGCAAAGTAAAATTCCCTCATACATCATCCAGTGAAAAGGAGCTAACAGGCCCGGGTTGGTTAAGATCTGTCCTGTGCTCTATTTTTCTCTTTTTTTTTTTTTTTTTTTTTGAGATGAAGTCGTGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCTCCATCTCGGCTCACTGCAAGCTCCGCCTCCTGAGTTCATGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCGCCTGCCACCACGCCCAGCTAATATTTTGTATTTTTAGTAGAGACGGGGTTTCGCCGTGTTAGCCAGGATGGTCTCGATCTCCTGACCTTGTGATCTGCCCACCTCGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCGCGCCCGGCTTTGTCCTGTGCTCTAAACCACCATGTTCTACTGCCTTTTGTGCACACGTATTTTAACTTCAAGGAGCCTCAGCTTGTCTGTCTCTCAAATGGGAATGACACTATTTACCTCTCAGGATTGCCATGAGAATTAATGCATATTTGTAGAGTGCCTGGCTCTGAAGAGGTGCTTTTAAAAAAAAGTTGCCTTGTGGTGACAGGAAACAGATTTGTGAGGTCAGTGGAGAGGGCCTGGGGAGAGGAGGCAGAGGAACGGACTCTGAGAAGTAGAGACAAAAGTGTCCAGTGCAGGGTCTCCTCCTGGCCCTCCCAGGCTCCCCTAACTGCCTCTCTCTGCCTCTCCTCGCTGGCCGTACTCAGGGTGGACTCCATTATGCTGGTGGAAGAGGGCTTCAGTGTGACGAGTGTGGATGCCAGTGACAAGATGCTGAAGTATGCACTTAAGGAGCGCTGGAACCGGCGGCACGAGCCCGCCTTCGACAAGTGGGGTATGCAGGTCTAGCCAGGCTCCCCCAGCCCAGTCACCAGGAACACTGTTCATTCTGCCTGGGGCTCCTTTAAGTGGGGGCGGGGGTGGAGTGTTGTGTTTTCCTCGGGGAGACAGAAAAATTACTGTCATTTCTCTGAAAAGCAAGTCTTAAGCTCCAGAATGAGACACCGGGTGTGAAGAGCTGGTTTTAACTGTGTTTGTGGCATCTTGTCCCTCCCCTCAAAGAAAAACCCATAAGCACAGAGCCCTCCTTCCCAACCAGGGTTCCTTCTCCCTTGATCCCTCTTTTCTCCTCCCCCTAACTGAACGGGGAGCTTGTGTGTCTTAAGAAGAAACCCAGGCAGGACTGCACTTGGTGGAGGTGGCTGCTACTGGTACCATCGTGCCTCCCTGATTCCTCTTTCTCTTCCTGACCCCTAGTCATCGAAGAAGCCAACTGGATGACTCTGGACAAAGATGTGCCCCAGTCAGCAGAGGGTGGCTTTGATGCTGTCATCTGCCTTGGAAACAGTTTCGCTCACTTGCCAGACTGCAAAGGTAAGAGAGGGTGTGGCCTTGGGCATGGCCCCCGCCTTGAGGCCCCCTTCCACAGACATCTGGCACCTGCTCTCCTGCCAAAGCA
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Task1_train_10333
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Consider this mutation in CNPY3-GNMT, GNMT (CNPY3-GNMT readthrough| glycine N-methyltransferase) on Chromosome 6. Is this a benign change or a disease-causing variant?
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Pathogenic; Glycine N-methyltransferase deficiency
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GGGGTGGCGGCCGAAGGGCTCCCGGACCAGTACGCGGACGGGGAGGCGGCGCGCGTGTGGCAGCTGTATATCGGAGACACCCGCAGCCGCACCGCCGAGTACAAGGCATGGCTGCTTGGGCTGCTGCGCCAGCACGGCTGCCAGCGGGTGCTCGACGTAGCCTGTGGCACTGGGTGAGCCCAGGCCGGGGCCGGGGGCGTTGCATGAGATCGGGGTCTGTCTCAGCCTGTACTGCGCGGCCGCAGAACCACAGGGCCGGGCACGTCAGGGCGGCCTTTGCCAATCCTGGAACGGGTGGGACACCAGGGCCAGGAGCAGGTACCTGCCCGGCAGAACAGGCACTGCGAGTGCCCCGTGAGGCTAGGGGTCCAGGTAGCGGTTCGCAGGGAGAGGCCCCGGAGAAGGGAGACTGAGTGTGAGTGAGGGTGTGGGCAGAAAAAGTGAGCGTCCCTGAGGCTTTGGAGCCAGAGCCACGGACAGATTGCAAATATTCCTCCTGTGATGGCCTTGGGCAGTGTTAACAGTTAACATTGCTCAACATTTGCACCTGCCAAGCCCAGTGCCAGGAGCTTTTGATACATCACTTTTTCAAACCCTCACAAAGCCCCATGAAGTTAAGCAGTGATATTCTCTCATTTACTACTGGGGAAGTAAGGCCTCAGCAAAGTAAAATTCCCTCATACATCATCCAGTGAAAAGGAGCTAACAGGCCCGGGTTGGTTAAGATCTGTCCTGTGCTCTATTTTTCTCTTTTTTTTTTTTTTTTTTTTTGAGATGAAGTCGTGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCTCCATCTCGGCTCACTGCAAGCTCCGCCTCCTGAGTTCATGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCGCCTGCCACCACGCCCAGCTAATATTTTGTATTTTTAGTAGAGACGGGGTTTCGCCGTGTTAGCCAGGATGGTCTCGATCTCCTGACCTTGTGATCTGCCCACCTCGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCGCGCCCGGCTTTGTCCTGTGCTCTAAACCACCATGTTCTACTGCCTTTTGTGCACACGTATTTTAACTTCAAGGAGCCTCAGCTTGTCTGTCTCTCAAATGGGAATGACACTATTTACCTCTCAGGATTGCCATGAGAATTAATGCATATTTGTAGAGTGCCTGGCTCTGAAGAGGTGCTTTTAAAAAAAAGTTGCCTTGTGGTGACAGGAAACAGATTTGTGAGGTCAGTGGAGAGGGCCTGGGGAGAGGAGGCAGAGGAACGGACTCTGAGAAGTAGAGACAAAAGTGTCCAGTGCAGGGTCTCCTCCTGGCCCTCCCAGGCTCCCCTAACTGCCTCTCTCTGCCTCTCCTCGCTGGCCGTACTCAGGGTGGACTCCATTATGCTGGTGGAAGAGGGCTTCAGTGTGACGAGTGTGGATGCCAGTGACAAGATGCTGAAGTATGCACTTAAGGAGCGCTGGAACCGGCGGCACGAGCCCGCCTTCGACAAGTGGGGTATGCAGGTCTAGCCAGGCTCCCCCAGCCCAGTCACCAGGAACACTGTTCATTCTGCCTGGGGCTCCTTTAAGTGGGGGCGGGGGTGGAGTGTTGTGTTTTCCTCGGGGAGACAGAAAAATTACTGTCATTTCTCTGAAAAGCAAGTCTTAAGCTCCAGAATGAGACACCGGGTGTGAAGAGCTGGTTTTAACTGTGTTTGTGGCATCTTGTCCCTCCCCTCAAAGAAAAACCCATAAGCACAGAGCCCTCCTTCCCAACCAGGGTTCCTTCTCCCTTGATCCCTCTTTTCTCCTCCCCCTAACTGAACGGGGAGCTTGTGTGTCTTAAGAAGAAACCCAGGCAGGACTGCACTTGGTGGAGGTGGCTGCTACTGGTACCATCGTGCCTCCCTGATTCCTCTTTCTCTTCCTGACCCCTAGTCATCGAAGAAGCCAACTGGATGACTCTGGACAAAGATGTGCCCCAGTCAGCAGAGGGTGGCTTTGATGCTGTCATCTGCCTTGGAAACAGTTTCGCTCACTTGCCAGACTGCAAAGGTAAGAGAGGGTGTGGCCTTGGGCATGGCCCCCGCCTTGAGGCCCCCTTCCACAGACATCTGGCACCTGCTCTCCTGCCAAAGCAGACTCTCTGCCTTGGCTCTGGCACCCCTGGGGAGGGGAGAGATGGGAGGGAGACTGGTGCTGGGGGCCCTGAGCAGATGGAGTCTTTCTGCCCGTGCCTGGAGCTCAGGGGACCAGAGTGAGCACCGGCTGGCGCTGAAAAACATTGCGAGCATGGTGCGGGCAGGGGGCCTACTGGTCATTGATCATCGCAACTACGACCACATCCTCAGTACAGGCTGTGCACCCCCAGGGAAGAACATCTACTATAAGGTGGGGCCCTCTGGGGTGGGGGTGGGGGTGGGGGTGGGGGTGGGGTGGAGGGAGGGTCCAGTGGCCCCAAGGTGGGTTACAGAGGCTAATGCCGGCTGCCCCACCACCTACAGAGTGACTTGACCAAGGACGTCACAACATCAGTGCTGATAGTGAACAACAAGGCCCACATGGTGACCCTGGACTATACGGTGCAGGTGCCGGGGGCTGGCCAGGATGGCTCTCCTGGCTTGAGGTACCACTTGGCTTAGTGGGGGTGAGGCGGTAGTTGGGGGAGCTGAGGTCACCAGTCCTCATGGTTGCTGGGGCCTCTGTTACAGTAAGTTCCGGCTCTCCTACTACCCACACTGTCTGGCATCCTTCACGGAGCTGCTCCAAGCAGCCTTCGGAGGTAAGTGCCAGCACAGCGTCCTGGGCGACTTCAAGCCTTACAAGCCAGGCCAAACCTACATTCCCTGCTACTTCATCCACGTGCTCAAGAGGACAGACTGAGTGTGGCCTCAGCTCCCACAAGCCTCTGCCCAGGCACTGCTAGGCTCTGTCTGGAAGATGGGGACCAGCAGCCCCACACCAGGGCCAGCCTCTAGAGCAGACTACAGCTGGGGTGCAGGGATGTGGGTTCCACAGACGGAAGGGTAAACAATATAGTCTTTTTCAGTTCCTGCATGCATTGTGTTTATTTATGTCAGAAGGATCAGGCTCCCATGCTGCCCACCCCCCCACCCTCTCCCAGGGCTTACTCCTCCCACAACCCTGCTCTTTCTCACTCCAACCTTTCATGCCACAACACCAGTAGGGGGCGGGACATGCTTTATTTTCAGCCACAGAACTAGCCCTCTCAGGGCCCAATCCCCAGAACCCAAGGCCCTGGCCCTCTTCCTGAGTAGATGGGCCTTTCTCTTAGAGCCGGCCTGGAAGGAGGGGCAAGTAGGCAGGAGATATCTCTTGAGCTGTTGCTGCTGTCTCAATGCCACTTTGCACCCTGGGATCTCCTGGAGGGAGGTGGCCTCCAGGTGGGTTGGCAGCAGCCTGAGGAGGAGCCCTTCCTTCCCAGATCTCTCTGTGGGCTATCAAGGTACCTGCAGCCATGCTGAGCGGGGTCCCAGACCCTGGGGGGCTCCTAGCAGGCAGCAAACTTGCGCTGGATGCGCTTGTACCGGAGCAGCTCCTGCTCACTGACTGAGGGTTGCAGCCGGGCGGCAGCCTGCAGCAAGTCCTCCATGGTGAGCATCAGTGCTGAGCTACCTGGCTCCAGCCCTGGAGATGACAAGGTGGGGAGGCTGTGGTCTATGCCCAGGCAGGGGAGAGCCCTGCGAAGGTGGCTTCCTGCTCAGGGTCTCCTAGATGTCAATGATCTTCCCTCTGGAATCCAGGACTAGGTTTGTCTCCCACTAGTTTTTTTTTTCCCTTAAACATTTTTTTTAGAGTTGGGGTCTCTCTGTGTTGCCCAGGCTGGCCTCAAACTCCTGGGCTCAAGCGATCCTCCCACCTCAGCCTCTCAAGTAGCTGGGACTCAGGTGCACCCAGCTCCCCACTAGCTTTTTGGTTGACCTCTCAGACCGGCAAGTGGCTCACCTTCCTCCAGGTCATGAACCCTGCGTTTGAGGGCAGCTGTCATAGCATCAGAGCAGAGAGAGTAGAGGTCCGCGCCCGTCAGCTGGGGAGGGCAGCAATCTAGCACG
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GGGGTGGCGGCCGAAGGGCTCCCGGACCAGTACGCGGACGGGGAGGCGGCGCGCGTGTGGCAGCTGTATATCGGAGACACCCGCAGCCGCACCGCCGAGTACAAGGCATGGCTGCTTGGGCTGCTGCGCCAGCACGGCTGCCAGCGGGTGCTCGACGTAGCCTGTGGCACTGGGTGAGCCCAGGCCGGGGCCGGGGGCGTTGCATGAGATCGGGGTCTGTCTCAGCCTGTACTGCGCGGCCGCAGAACCACAGGGCCGGGCACGTCAGGGCGGCCTTTGCCAATCCTGGAACGGGTGGGACACCAGGGCCAGGAGCAGGTACCTGCCCGGCAGAACAGGCACTGCGAGTGCCCCGTGAGGCTAGGGGTCCAGGTAGCGGTTCGCAGGGAGAGGCCCCGGAGAAGGGAGACTGAGTGTGAGTGAGGGTGTGGGCAGAAAAAGTGAGCGTCCCTGAGGCTTTGGAGCCAGAGCCACGGACAGATTGCAAATATTCCTCCTGTGATGGCCTTGGGCAGTGTTAACAGTTAACATTGCTCAACATTTGCACCTGCCAAGCCCAGTGCCAGGAGCTTTTGATACATCACTTTTTCAAACCCTCACAAAGCCCCATGAAGTTAAGCAGTGATATTCTCTCATTTACTACTGGGGAAGTAAGGCCTCAGCAAAGTAAAATTCCCTCATACATCATCCAGTGAAAAGGAGCTAACAGGCCCGGGTTGGTTAAGATCTGTCCTGTGCTCTATTTTTCTCTTTTTTTTTTTTTTTTTTTTTGAGATGAAGTCGTGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCTCCATCTCGGCTCACTGCAAGCTCCGCCTCCTGAGTTCATGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCGCCTGCCACCACGCCCAGCTAATATTTTGTATTTTTAGTAGAGACGGGGTTTCGCCGTGTTAGCCAGGATGGTCTCGATCTCCTGACCTTGTGATCTGCCCACCTCGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCGCGCCCGGCTTTGTCCTGTGCTCTAAACCACCATGTTCTACTGCCTTTTGTGCACACGTATTTTAACTTCAAGGAGCCTCAGCTTGTCTGTCTCTCAAATGGGAATGACACTATTTACCTCTCAGGATTGCCATGAGAATTAATGCATATTTGTAGAGTGCCTGGCTCTGAAGAGGTGCTTTTAAAAAAAAGTTGCCTTGTGGTGACAGGAAACAGATTTGTGAGGTCAGTGGAGAGGGCCTGGGGAGAGGAGGCAGAGGAACGGACTCTGAGAAGTAGAGACAAAAGTGTCCAGTGCAGGGTCTCCTCCTGGCCCTCCCAGGCTCCCCTAACTGCCTCTCTCTGCCTCTCCTCGCTGGCCGTACTCAGGGTGGACTCCATTATGCTGGTGGAAGAGGGCTTCAGTGTGACGAGTGTGGATGCCAGTGACAAGATGCTGAAGTATGCACTTAAGGAGCGCTGGAACCGGCGGCACGAGCCCGCCTTCGACAAGTGGGGTATGCAGGTCTAGCCAGGCTCCCCCAGCCCAGTCACCAGGAACACTGTTCATTCTGCCTGGGGCTCCTTTAAGTGGGGGCGGGGGTGGAGTGTTGTGTTTTCCTCGGGGAGACAGAAAAATTACTGTCATTTCTCTGAAAAGCAAGTCTTAAGCTCCAGAATGAGACACCGGGTGTGAAGAGCTGGTTTTAACTGTGTTTGTGGCATCTTGTCCCTCCCCTCAAAGAAAAACCCATAAGCACAGAGCCCTCCTTCCCAACCAGGGTTCCTTCTCCCTTGATCCCTCTTTTCTCCTCCCCCTAACTGAACGGGGAGCTTGTGTGTCTTAAGAAGAAACCCAGGCAGGACTGCACTTGGTGGAGGTGGCTGCTACTGGTACCATCGTGCCTCCCTGATTCCTCTTTCTCTTCCTGACCCCTAGTCATCGAAGAAGCCAACTGGATGACTCTGGACAAAGATGTGCCCCAGTCAGCAGAGGGTGGCTTTGATGCTGTCATCTGCCTTGGAAGCAGTTTCGCTCACTTGCCAGACTGCAAAGGTAAGAGAGGGTGTGGCCTTGGGCATGGCCCCCGCCTTGAGGCCCCCTTCCACAGACATCTGGCACCTGCTCTCCTGCCAAAGCAGACTCTCTGCCTTGGCTCTGGCACCCCTGGGGAGGGGAGAGATGGGAGGGAGACTGGTGCTGGGGGCCCTGAGCAGATGGAGTCTTTCTGCCCGTGCCTGGAGCTCAGGGGACCAGAGTGAGCACCGGCTGGCGCTGAAAAACATTGCGAGCATGGTGCGGGCAGGGGGCCTACTGGTCATTGATCATCGCAACTACGACCACATCCTCAGTACAGGCTGTGCACCCCCAGGGAAGAACATCTACTATAAGGTGGGGCCCTCTGGGGTGGGGGTGGGGGTGGGGGTGGGGGTGGGGTGGAGGGAGGGTCCAGTGGCCCCAAGGTGGGTTACAGAGGCTAATGCCGGCTGCCCCACCACCTACAGAGTGACTTGACCAAGGACGTCACAACATCAGTGCTGATAGTGAACAACAAGGCCCACATGGTGACCCTGGACTATACGGTGCAGGTGCCGGGGGCTGGCCAGGATGGCTCTCCTGGCTTGAGGTACCACTTGGCTTAGTGGGGGTGAGGCGGTAGTTGGGGGAGCTGAGGTCACCAGTCCTCATGGTTGCTGGGGCCTCTGTTACAGTAAGTTCCGGCTCTCCTACTACCCACACTGTCTGGCATCCTTCACGGAGCTGCTCCAAGCAGCCTTCGGAGGTAAGTGCCAGCACAGCGTCCTGGGCGACTTCAAGCCTTACAAGCCAGGCCAAACCTACATTCCCTGCTACTTCATCCACGTGCTCAAGAGGACAGACTGAGTGTGGCCTCAGCTCCCACAAGCCTCTGCCCAGGCACTGCTAGGCTCTGTCTGGAAGATGGGGACCAGCAGCCCCACACCAGGGCCAGCCTCTAGAGCAGACTACAGCTGGGGTGCAGGGATGTGGGTTCCACAGACGGAAGGGTAAACAATATAGTCTTTTTCAGTTCCTGCATGCATTGTGTTTATTTATGTCAGAAGGATCAGGCTCCCATGCTGCCCACCCCCCCACCCTCTCCCAGGGCTTACTCCTCCCACAACCCTGCTCTTTCTCACTCCAACCTTTCATGCCACAACACCAGTAGGGGGCGGGACATGCTTTATTTTCAGCCACAGAACTAGCCCTCTCAGGGCCCAATCCCCAGAACCCAAGGCCCTGGCCCTCTTCCTGAGTAGATGGGCCTTTCTCTTAGAGCCGGCCTGGAAGGAGGGGCAAGTAGGCAGGAGATATCTCTTGAGCTGTTGCTGCTGTCTCAATGCCACTTTGCACCCTGGGATCTCCTGGAGGGAGGTGGCCTCCAGGTGGGTTGGCAGCAGCCTGAGGAGGAGCCCTTCCTTCCCAGATCTCTCTGTGGGCTATCAAGGTACCTGCAGCCATGCTGAGCGGGGTCCCAGACCCTGGGGGGCTCCTAGCAGGCAGCAAACTTGCGCTGGATGCGCTTGTACCGGAGCAGCTCCTGCTCACTGACTGAGGGTTGCAGCCGGGCGGCAGCCTGCAGCAAGTCCTCCATGGTGAGCATCAGTGCTGAGCTACCTGGCTCCAGCCCTGGAGATGACAAGGTGGGGAGGCTGTGGTCTATGCCCAGGCAGGGGAGAGCCCTGCGAAGGTGGCTTCCTGCTCAGGGTCTCCTAGATGTCAATGATCTTCCCTCTGGAATCCAGGACTAGGTTTGTCTCCCACTAGTTTTTTTTTTCCCTTAAACATTTTTTTTAGAGTTGGGGTCTCTCTGTGTTGCCCAGGCTGGCCTCAAACTCCTGGGCTCAAGCGATCCTCCCACCTCAGCCTCTCAAGTAGCTGGGACTCAGGTGCACCCAGCTCCCCACTAGCTTTTTGGTTGACCTCTCAGACCGGCAAGTGGCTCACCTTCCTCCAGGTCATGAACCCTGCGTTTGAGGGCAGCTGTCATAGCATCAGAGCAGAGAGAGTAGAGGTCCGCGCCCGTCAGCTGGGGAGGGCAGCAATCTAGCACG
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Task1_train_10334
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This variant affects the gene PEX6 (peroxisomal biogenesis factor 6) found on Chromosome 6. What is the clinical effect of this variant — benign or pathogenic? State the disease if applicable.
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Pathogenic; Heimler syndrome 2
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TCATCTGCCTTGGAAACAGTTTCGCTCACTTGCCAGACTGCAAAGGTAAGAGAGGGTGTGGCCTTGGGCATGGCCCCCGCCTTGAGGCCCCCTTCCACAGACATCTGGCACCTGCTCTCCTGCCAAAGCAGACTCTCTGCCTTGGCTCTGGCACCCCTGGGGAGGGGAGAGATGGGAGGGAGACTGGTGCTGGGGGCCCTGAGCAGATGGAGTCTTTCTGCCCGTGCCTGGAGCTCAGGGGACCAGAGTGAGCACCGGCTGGCGCTGAAAAACATTGCGAGCATGGTGCGGGCAGGGGGCCTACTGGTCATTGATCATCGCAACTACGACCACATCCTCAGTACAGGCTGTGCACCCCCAGGGAAGAACATCTACTATAAGGTGGGGCCCTCTGGGGTGGGGGTGGGGGTGGGGGTGGGGGTGGGGTGGAGGGAGGGTCCAGTGGCCCCAAGGTGGGTTACAGAGGCTAATGCCGGCTGCCCCACCACCTACAGAGTGACTTGACCAAGGACGTCACAACATCAGTGCTGATAGTGAACAACAAGGCCCACATGGTGACCCTGGACTATACGGTGCAGGTGCCGGGGGCTGGCCAGGATGGCTCTCCTGGCTTGAGGTACCACTTGGCTTAGTGGGGGTGAGGCGGTAGTTGGGGGAGCTGAGGTCACCAGTCCTCATGGTTGCTGGGGCCTCTGTTACAGTAAGTTCCGGCTCTCCTACTACCCACACTGTCTGGCATCCTTCACGGAGCTGCTCCAAGCAGCCTTCGGAGGTAAGTGCCAGCACAGCGTCCTGGGCGACTTCAAGCCTTACAAGCCAGGCCAAACCTACATTCCCTGCTACTTCATCCACGTGCTCAAGAGGACAGACTGAGTGTGGCCTCAGCTCCCACAAGCCTCTGCCCAGGCACTGCTAGGCTCTGTCTGGAAGATGGGGACCAGCAGCCCCACACCAGGGCCAGCCTCTAGAGCAGACTACAGCTGGGGTGCAGGGATGTGGGTTCCACAGACGGAAGGGTAAACAATATAGTCTTTTTCAGTTCCTGCATGCATTGTGTTTATTTATGTCAGAAGGATCAGGCTCCCATGCTGCCCACCCCCCCACCCTCTCCCAGGGCTTACTCCTCCCACAACCCTGCTCTTTCTCACTCCAACCTTTCATGCCACAACACCAGTAGGGGGCGGGACATGCTTTATTTTCAGCCACAGAACTAGCCCTCTCAGGGCCCAATCCCCAGAACCCAAGGCCCTGGCCCTCTTCCTGAGTAGATGGGCCTTTCTCTTAGAGCCGGCCTGGAAGGAGGGGCAAGTAGGCAGGAGATATCTCTTGAGCTGTTGCTGCTGTCTCAATGCCACTTTGCACCCTGGGATCTCCTGGAGGGAGGTGGCCTCCAGGTGGGTTGGCAGCAGCCTGAGGAGGAGCCCTTCCTTCCCAGATCTCTCTGTGGGCTATCAAGGTACCTGCAGCCATGCTGAGCGGGGTCCCAGACCCTGGGGGGCTCCTAGCAGGCAGCAAACTTGCGCTGGATGCGCTTGTACCGGAGCAGCTCCTGCTCACTGACTGAGGGTTGCAGCCGGGCGGCAGCCTGCAGCAAGTCCTCCATGGTGAGCATCAGTGCTGAGCTACCTGGCTCCAGCCCTGGAGATGACAAGGTGGGGAGGCTGTGGTCTATGCCCAGGCAGGGGAGAGCCCTGCGAAGGTGGCTTCCTGCTCAGGGTCTCCTAGATGTCAATGATCTTCCCTCTGGAATCCAGGACTAGGTTTGTCTCCCACTAGTTTTTTTTTTCCCTTAAACATTTTTTTTAGAGTTGGGGTCTCTCTGTGTTGCCCAGGCTGGCCTCAAACTCCTGGGCTCAAGCGATCCTCCCACCTCAGCCTCTCAAGTAGCTGGGACTCAGGTGCACCCAGCTCCCCACTAGCTTTTTGGTTGACCTCTCAGACCGGCAAGTGGCTCACCTTCCTCCAGGTCATGAACCCTGCGTTTGAGGGCAGCTGTCATAGCATCAGAGCAGAGAGAGTAGAGGTCCGCGCCCGTCAGCTGGGGAGGGCAGCAATCTAGCACGTTTACCAGGCTCACAGATGGCTCTAGCTTGAATCTGTTGTGGGATACAGGAAGAAACAGAGTTGGCATCACCTCCTCCCTCGAAAGCCAGTGCTGACCAGCTCATCCTGCATGTTGCATGCATCCCCTAAGCATCCCAAGGCCCAAGCCCTTCGCAGTCTTCCTCTAACAGAGCATACTTGCGTGTGATGGCACTTAGAACGCGTAGCTGGGAGGCCCGGTCCTCATTTGCCCCCACAAACACCAGCTTGTCAAATCTTTAGGGAGATAGGCAGGTATAAGTTTCAGGGAGCCCAGCCATGAGGGGTGAAGGAGGCACAAAATGAGGGTGGAGATGAGCAGTACAAGGGGCCCACCTGCCAGGCCGCAGAAGGGCAGGGTCCAGGAGATCTGGTCTGTTGGTGGCTCCAATCACAAACACATCCTGAGTGCTGTGCAGCCCATCTAGCTCGGCAAGGAGCTGAGACACCACCCTGGAGAGAAGGGAGCAAGGGCAAGAGTCCTTGGTGTCCCCCTTAGACTCTGCCCCTGCCTGTGGTACCTCTCTTTACAGGCAGTCTCAACAGGGCCCTCCACTCAGCTGTGCCCAATGTGCCCCACCAGGTAGGCCCCCATTCTCCTCAGTGGACCCTGCCCAATTTCATGGCCCCTTTCAGCTTCCATTATATTATCTCAGAACTGAAACAGCAGGAACTTCTATCTCTGGACTCTGAAGACTGCTGTGAGCTTTCTCATATCCTTCCCACCCTGGACCCCTCAGCTTTCATTCCCACTCAGACCCCTACCTGTCCATCACTCCTCCAGAATCTCCACTTCGCCCCCGGCTTGGGGCCAAAGAGTCCAGTTCATCAAAGAAGATAATGCATGGAGCTGCAGCCCTGGCCCTGGCAAACACTGAAGAGAGAGAGGGGCCCACAGGAGGGCAAAGCTCGGCTTGTGGGGGGTTGAAGTTAGGTGAGAGCAGGGAGGGAAACTGGGGCCTGACAATACAGCACTGGCATCCCAGGTACTAGACCCAGCTGGGCAGGAACCTGACTTGTAGAAAGGAGGATTAGGAATGATCATGAGTAGCCTGGGAGTAGGGGGTGGCTTGGGGGCCATCGGGGTTTGGGAAGCATGGGACGCCCTGCCCCTCCCTGCTCACTCACCTTCCCGCACATTCTCCTCACTTTGGCCCACATACATGTTAATGAGCTCTGGCCCCTTCACGCTGAGTGAGAGGATGTGAGAAGGTGAGAGCCGTCAGATGCACATACACACAATTGACCTCTTGGGCAGCCCCTCCTGCTCCCCAGCCTGCTGCAGCCCCTGATCCACCCACCATCCCTTCCAGGCCCCCTGGCCACCTGAGGAAGGTAAGGCTGCACTCAGTGGCTACTGCCTTGGCCAGAAGGGTCTTGCCGGTGCCAGGGGGCCCATGGAGCAGAAGGCCTGAGCGTCTCAGGCCCAGGCTCAGTAGCTCAGGGTGCTCCAGGGGGAGCTGAATGGTCTCCAGGATCTCCTTCTTCACCTCCTGCAGCCCACCCACATCATGCCAGGACACTGAGGGGATCTAGGAGATGGAAAGTGCGTGGTTGGGATATGCTCTTGGAGGGGCTCCTGTCCCACCTCCAAGGACTTGGTCTCCACCTTGGGGGCTCCAACGGCCTGGGAGTGAGCTGTCTGCAGTTGCTCCAGTGCCTGCCCAAAGTCCTCAGCCAGGAGAGGAAAGCCGGCAGCACACAGCTCCCCCTCATCCTCCTCAGTCAAGCCACCTGCCAAACTGCAAAGAGGAACACAGGGAAGCCTCCTCACCATCAGCGTCCCATTCCCTTCTCCCTTCCTCACCACCCACCCATCTACATCCATTTCCTCTTTCCGCCTTTCCGGTGCCCACGTCCTCTTACCCTGAGTTCTTGATCCTGGTGCAGGCTGCCCGGCTGCTGTGGGTCAGAAGGGCATAGAGATCCCCTACCACAAAGCCCTAGGGAACCACAGGAAAGGACACATGAGCAGGGCACAGTAGGCAGGAACCTTCAGGGACCGTCCCCCAGC
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TCATCTGCCTTGGAAACAGTTTCGCTCACTTGCCAGACTGCAAAGGTAAGAGAGGGTGTGGCCTTGGGCATGGCCCCCGCCTTGAGGCCCCCTTCCACAGACATCTGGCACCTGCTCTCCTGCCAAAGCAGACTCTCTGCCTTGGCTCTGGCACCCCTGGGGAGGGGAGAGATGGGAGGGAGACTGGTGCTGGGGGCCCTGAGCAGATGGAGTCTTTCTGCCCGTGCCTGGAGCTCAGGGGACCAGAGTGAGCACCGGCTGGCGCTGAAAAACATTGCGAGCATGGTGCGGGCAGGGGGCCTACTGGTCATTGATCATCGCAACTACGACCACATCCTCAGTACAGGCTGTGCACCCCCAGGGAAGAACATCTACTATAAGGTGGGGCCCTCTGGGGTGGGGGTGGGGGTGGGGGTGGGGGTGGGGTGGAGGGAGGGTCCAGTGGCCCCAAGGTGGGTTACAGAGGCTAATGCCGGCTGCCCCACCACCTACAGAGTGACTTGACCAAGGACGTCACAACATCAGTGCTGATAGTGAACAACAAGGCCCACATGGTGACCCTGGACTATACGGTGCAGGTGCCGGGGGCTGGCCAGGATGGCTCTCCTGGCTTGAGGTACCACTTGGCTTAGTGGGGGTGAGGCGGTAGTTGGGGGAGCTGAGGTCACCAGTCCTCATGGTTGCTGGGGCCTCTGTTACAGTAAGTTCCGGCTCTCCTACTACCCACACTGTCTGGCATCCTTCACGGAGCTGCTCCAAGCAGCCTTCGGAGGTAAGTGCCAGCACAGCGTCCTGGGCGACTTCAAGCCTTACAAGCCAGGCCAAACCTACATTCCCTGCTACTTCATCCACGTGCTCAAGAGGACAGACTGAGTGTGGCCTCAGCTCCCACAAGCCTCTGCCCAGGCACTGCTAGGCTCTGTCTGGAAGATGGGGACCAGCAGCCCCACACCAGGGCCAGCCTCTAGAGCAGACTACAGCTGGGGTGCAGGGATGTGGGTTCCACAGACGGAAGGGTAAACAATATAGTCTTTTTCAGTTCCTGCATGCATTGTGTTTATTTATGTCAGAAGGATCAGGCTCCCATGCTGCCCACCCCCCCACCCTCTCCCAGGGCTTACTCCTCCCACAACCCTGCTCTTTCTCACTCCAACCTTTCATGCCACAACACCAGTAGGGGGCGGGACATGCTTTATTTTCAGCCACAGAACTAGCCCTCTCAGGGCCCAATCCCCAGAACCCAAGGCCCTGGCCCTCTTCCTGAGTAGATGGGCCTTTCTCTTAGAGCCGGCCTGGAAGGAGGGGCAAGTAGGCAGGAGATATCTCTTGAGCTGTTGCTGCTGTCTCAATGCCACTTTGCACCCTGGGATCTCCTGGAGGGAGGTGGCCTCCAGGTGGGTTGGCAGCAGCCTGAGGAGGAGCCCTTCCTTCCCAGATCTCTCTGTGGGCTATCAAGGTACCTGCAGCCATGCTGAGCGGGGTCCCAGACCCTGGGGGGCTCCTAGCAGGCAGCAAACTTGCGCTGGATGCGCTTGTACCGGAGCAGCTCCTGCTCACTGACTGAGGGTTGCAGCCGGGCGGCAGCCTGCAGCAAGTCCTCCATGGTGAGCATCAGTGCTGAGCTACCTGGCTCCAGCCCTGGAGATGACAAGGTGGGGAGGCTGTGGTCTATGCCCAGGCAGGGGAGAGCCCTGCGAAGGTGGCTTCCTGCTCAGGGTCTCCTAGATGTCAATGATCTTCCCTCTGGAATCCAGGACTAGGTTTGTCTCCCACTAGTTTTTTTTTTCCCTTAAACATTTTTTTTAGAGTTGGGGTCTCTCTGTGTTGCCCAGGCTGGCCTCAAACTCCTGGGCTCAAGCGATCCTCCCACCTCAGCCTCTCAAGTAGCTGGGACTCAGGTGCACCCAGCTCCCCACTAGCTTTTTGGTTGACCTCTCAGACCGGCAAGTGGCTCACCTTCCTCCAGGTCATGAACCCTGCGTTTGAGGGCAGCTGTCATAGCATCAGAGCAGAGAGAGTAGAGGTCCGCGCCCGTCAGCTGGGGAGGGAAGCAATCTAGCACGTTTACCAGGCTCACAGATGGCTCTAGCTTGAATCTGTTGTGGGATACAGGAAGAAACAGAGTTGGCATCACCTCCTCCCTCGAAAGCCAGTGCTGACCAGCTCATCCTGCATGTTGCATGCATCCCCTAAGCATCCCAAGGCCCAAGCCCTTCGCAGTCTTCCTCTAACAGAGCATACTTGCGTGTGATGGCACTTAGAACGCGTAGCTGGGAGGCCCGGTCCTCATTTGCCCCCACAAACACCAGCTTGTCAAATCTTTAGGGAGATAGGCAGGTATAAGTTTCAGGGAGCCCAGCCATGAGGGGTGAAGGAGGCACAAAATGAGGGTGGAGATGAGCAGTACAAGGGGCCCACCTGCCAGGCCGCAGAAGGGCAGGGTCCAGGAGATCTGGTCTGTTGGTGGCTCCAATCACAAACACATCCTGAGTGCTGTGCAGCCCATCTAGCTCGGCAAGGAGCTGAGACACCACCCTGGAGAGAAGGGAGCAAGGGCAAGAGTCCTTGGTGTCCCCCTTAGACTCTGCCCCTGCCTGTGGTACCTCTCTTTACAGGCAGTCTCAACAGGGCCCTCCACTCAGCTGTGCCCAATGTGCCCCACCAGGTAGGCCCCCATTCTCCTCAGTGGACCCTGCCCAATTTCATGGCCCCTTTCAGCTTCCATTATATTATCTCAGAACTGAAACAGCAGGAACTTCTATCTCTGGACTCTGAAGACTGCTGTGAGCTTTCTCATATCCTTCCCACCCTGGACCCCTCAGCTTTCATTCCCACTCAGACCCCTACCTGTCCATCACTCCTCCAGAATCTCCACTTCGCCCCCGGCTTGGGGCCAAAGAGTCCAGTTCATCAAAGAAGATAATGCATGGAGCTGCAGCCCTGGCCCTGGCAAACACTGAAGAGAGAGAGGGGCCCACAGGAGGGCAAAGCTCGGCTTGTGGGGGGTTGAAGTTAGGTGAGAGCAGGGAGGGAAACTGGGGCCTGACAATACAGCACTGGCATCCCAGGTACTAGACCCAGCTGGGCAGGAACCTGACTTGTAGAAAGGAGGATTAGGAATGATCATGAGTAGCCTGGGAGTAGGGGGTGGCTTGGGGGCCATCGGGGTTTGGGAAGCATGGGACGCCCTGCCCCTCCCTGCTCACTCACCTTCCCGCACATTCTCCTCACTTTGGCCCACATACATGTTAATGAGCTCTGGCCCCTTCACGCTGAGTGAGAGGATGTGAGAAGGTGAGAGCCGTCAGATGCACATACACACAATTGACCTCTTGGGCAGCCCCTCCTGCTCCCCAGCCTGCTGCAGCCCCTGATCCACCCACCATCCCTTCCAGGCCCCCTGGCCACCTGAGGAAGGTAAGGCTGCACTCAGTGGCTACTGCCTTGGCCAGAAGGGTCTTGCCGGTGCCAGGGGGCCCATGGAGCAGAAGGCCTGAGCGTCTCAGGCCCAGGCTCAGTAGCTCAGGGTGCTCCAGGGGGAGCTGAATGGTCTCCAGGATCTCCTTCTTCACCTCCTGCAGCCCACCCACATCATGCCAGGACACTGAGGGGATCTAGGAGATGGAAAGTGCGTGGTTGGGATATGCTCTTGGAGGGGCTCCTGTCCCACCTCCAAGGACTTGGTCTCCACCTTGGGGGCTCCAACGGCCTGGGAGTGAGCTGTCTGCAGTTGCTCCAGTGCCTGCCCAAAGTCCTCAGCCAGGAGAGGAAAGCCGGCAGCACACAGCTCCCCCTCATCCTCCTCAGTCAAGCCACCTGCCAAACTGCAAAGAGGAACACAGGGAAGCCTCCTCACCATCAGCGTCCCATTCCCTTCTCCCTTCCTCACCACCCACCCATCTACATCCATTTCCTCTTTCCGCCTTTCCGGTGCCCACGTCCTCTTACCCTGAGTTCTTGATCCTGGTGCAGGCTGCCCGGCTGCTGTGGGTCAGAAGGGCATAGAGATCCCCTACCACAAAGCCCTAGGGAACCACAGGAAAGGACACATGAGCAGGGCACAGTAGGCAGGAACCTTCAGGGACCGTCCCCCAGC
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Task1_train_10335
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A mutation in PEX6 (peroxisomal biogenesis factor 6), located on Chromosome 6, is being studied. Determine whether it’s pathogenic or benign, and specify the linked disease.
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Pathogenic; not specified
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TCATCTGCCTTGGAAACAGTTTCGCTCACTTGCCAGACTGCAAAGGTAAGAGAGGGTGTGGCCTTGGGCATGGCCCCCGCCTTGAGGCCCCCTTCCACAGACATCTGGCACCTGCTCTCCTGCCAAAGCAGACTCTCTGCCTTGGCTCTGGCACCCCTGGGGAGGGGAGAGATGGGAGGGAGACTGGTGCTGGGGGCCCTGAGCAGATGGAGTCTTTCTGCCCGTGCCTGGAGCTCAGGGGACCAGAGTGAGCACCGGCTGGCGCTGAAAAACATTGCGAGCATGGTGCGGGCAGGGGGCCTACTGGTCATTGATCATCGCAACTACGACCACATCCTCAGTACAGGCTGTGCACCCCCAGGGAAGAACATCTACTATAAGGTGGGGCCCTCTGGGGTGGGGGTGGGGGTGGGGGTGGGGGTGGGGTGGAGGGAGGGTCCAGTGGCCCCAAGGTGGGTTACAGAGGCTAATGCCGGCTGCCCCACCACCTACAGAGTGACTTGACCAAGGACGTCACAACATCAGTGCTGATAGTGAACAACAAGGCCCACATGGTGACCCTGGACTATACGGTGCAGGTGCCGGGGGCTGGCCAGGATGGCTCTCCTGGCTTGAGGTACCACTTGGCTTAGTGGGGGTGAGGCGGTAGTTGGGGGAGCTGAGGTCACCAGTCCTCATGGTTGCTGGGGCCTCTGTTACAGTAAGTTCCGGCTCTCCTACTACCCACACTGTCTGGCATCCTTCACGGAGCTGCTCCAAGCAGCCTTCGGAGGTAAGTGCCAGCACAGCGTCCTGGGCGACTTCAAGCCTTACAAGCCAGGCCAAACCTACATTCCCTGCTACTTCATCCACGTGCTCAAGAGGACAGACTGAGTGTGGCCTCAGCTCCCACAAGCCTCTGCCCAGGCACTGCTAGGCTCTGTCTGGAAGATGGGGACCAGCAGCCCCACACCAGGGCCAGCCTCTAGAGCAGACTACAGCTGGGGTGCAGGGATGTGGGTTCCACAGACGGAAGGGTAAACAATATAGTCTTTTTCAGTTCCTGCATGCATTGTGTTTATTTATGTCAGAAGGATCAGGCTCCCATGCTGCCCACCCCCCCACCCTCTCCCAGGGCTTACTCCTCCCACAACCCTGCTCTTTCTCACTCCAACCTTTCATGCCACAACACCAGTAGGGGGCGGGACATGCTTTATTTTCAGCCACAGAACTAGCCCTCTCAGGGCCCAATCCCCAGAACCCAAGGCCCTGGCCCTCTTCCTGAGTAGATGGGCCTTTCTCTTAGAGCCGGCCTGGAAGGAGGGGCAAGTAGGCAGGAGATATCTCTTGAGCTGTTGCTGCTGTCTCAATGCCACTTTGCACCCTGGGATCTCCTGGAGGGAGGTGGCCTCCAGGTGGGTTGGCAGCAGCCTGAGGAGGAGCCCTTCCTTCCCAGATCTCTCTGTGGGCTATCAAGGTACCTGCAGCCATGCTGAGCGGGGTCCCAGACCCTGGGGGGCTCCTAGCAGGCAGCAAACTTGCGCTGGATGCGCTTGTACCGGAGCAGCTCCTGCTCACTGACTGAGGGTTGCAGCCGGGCGGCAGCCTGCAGCAAGTCCTCCATGGTGAGCATCAGTGCTGAGCTACCTGGCTCCAGCCCTGGAGATGACAAGGTGGGGAGGCTGTGGTCTATGCCCAGGCAGGGGAGAGCCCTGCGAAGGTGGCTTCCTGCTCAGGGTCTCCTAGATGTCAATGATCTTCCCTCTGGAATCCAGGACTAGGTTTGTCTCCCACTAGTTTTTTTTTTCCCTTAAACATTTTTTTTAGAGTTGGGGTCTCTCTGTGTTGCCCAGGCTGGCCTCAAACTCCTGGGCTCAAGCGATCCTCCCACCTCAGCCTCTCAAGTAGCTGGGACTCAGGTGCACCCAGCTCCCCACTAGCTTTTTGGTTGACCTCTCAGACCGGCAAGTGGCTCACCTTCCTCCAGGTCATGAACCCTGCGTTTGAGGGCAGCTGTCATAGCATCAGAGCAGAGAGAGTAGAGGTCCGCGCCCGTCAGCTGGGGAGGGCAGCAATCTAGCACGTTTACCAGGCTCACAGATGGCTCTAGCTTGAATCTGTTGTGGGATACAGGAAGAAACAGAGTTGGCATCACCTCCTCCCTCGAAAGCCAGTGCTGACCAGCTCATCCTGCATGTTGCATGCATCCCCTAAGCATCCCAAGGCCCAAGCCCTTCGCAGTCTTCCTCTAACAGAGCATACTTGCGTGTGATGGCACTTAGAACGCGTAGCTGGGAGGCCCGGTCCTCATTTGCCCCCACAAACACCAGCTTGTCAAATCTTTAGGGAGATAGGCAGGTATAAGTTTCAGGGAGCCCAGCCATGAGGGGTGAAGGAGGCACAAAATGAGGGTGGAGATGAGCAGTACAAGGGGCCCACCTGCCAGGCCGCAGAAGGGCAGGGTCCAGGAGATCTGGTCTGTTGGTGGCTCCAATCACAAACACATCCTGAGTGCTGTGCAGCCCATCTAGCTCGGCAAGGAGCTGAGACACCACCCTGGAGAGAAGGGAGCAAGGGCAAGAGTCCTTGGTGTCCCCCTTAGACTCTGCCCCTGCCTGTGGTACCTCTCTTTACAGGCAGTCTCAACAGGGCCCTCCACTCAGCTGTGCCCAATGTGCCCCACCAGGTAGGCCCCCATTCTCCTCAGTGGACCCTGCCCAATTTCATGGCCCCTTTCAGCTTCCATTATATTATCTCAGAACTGAAACAGCAGGAACTTCTATCTCTGGACTCTGAAGACTGCTGTGAGCTTTCTCATATCCTTCCCACCCTGGACCCCTCAGCTTTCATTCCCACTCAGACCCCTACCTGTCCATCACTCCTCCAGAATCTCCACTTCGCCCCCGGCTTGGGGCCAAAGAGTCCAGTTCATCAAAGAAGATAATGCATGGAGCTGCAGCCCTGGCCCTGGCAAACACTGAAGAGAGAGAGGGGCCCACAGGAGGGCAAAGCTCGGCTTGTGGGGGGTTGAAGTTAGGTGAGAGCAGGGAGGGAAACTGGGGCCTGACAATACAGCACTGGCATCCCAGGTACTAGACCCAGCTGGGCAGGAACCTGACTTGTAGAAAGGAGGATTAGGAATGATCATGAGTAGCCTGGGAGTAGGGGGTGGCTTGGGGGCCATCGGGGTTTGGGAAGCATGGGACGCCCTGCCCCTCCCTGCTCACTCACCTTCCCGCACATTCTCCTCACTTTGGCCCACATACATGTTAATGAGCTCTGGCCCCTTCACGCTGAGTGAGAGGATGTGAGAAGGTGAGAGCCGTCAGATGCACATACACACAATTGACCTCTTGGGCAGCCCCTCCTGCTCCCCAGCCTGCTGCAGCCCCTGATCCACCCACCATCCCTTCCAGGCCCCCTGGCCACCTGAGGAAGGTAAGGCTGCACTCAGTGGCTACTGCCTTGGCCAGAAGGGTCTTGCCGGTGCCAGGGGGCCCATGGAGCAGAAGGCCTGAGCGTCTCAGGCCCAGGCTCAGTAGCTCAGGGTGCTCCAGGGGGAGCTGAATGGTCTCCAGGATCTCCTTCTTCACCTCCTGCAGCCCACCCACATCATGCCAGGACACTGAGGGGATCTAGGAGATGGAAAGTGCGTGGTTGGGATATGCTCTTGGAGGGGCTCCTGTCCCACCTCCAAGGACTTGGTCTCCACCTTGGGGGCTCCAACGGCCTGGGAGTGAGCTGTCTGCAGTTGCTCCAGTGCCTGCCCAAAGTCCTCAGCCAGGAGAGGAAAGCCGGCAGCACACAGCTCCCCCTCATCCTCCTCAGTCAAGCCACCTGCCAAACTGCAAAGAGGAACACAGGGAAGCCTCCTCACCATCAGCGTCCCATTCCCTTCTCCCTTCCTCACCACCCACCCATCTACATCCATTTCCTCTTTCCGCCTTTCCGGTGCCCACGTCCTCTTACCCTGAGTTCTTGATCCTGGTGCAGGCTGCCCGGCTGCTGTGGGTCAGAAGGGCATAGAGATCCCCTACCACAAAGCCCTAGGGAACCACAGGAAAGGACACATGAGCAGGGCACAGTAGGCAGGAACCTTCAGGGACCGTCCCCCAGC
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TCATCTGCCTTGGAAACAGTTTCGCTCACTTGCCAGACTGCAAAGGTAAGAGAGGGTGTGGCCTTGGGCATGGCCCCCGCCTTGAGGCCCCCTTCCACAGACATCTGGCACCTGCTCTCCTGCCAAAGCAGACTCTCTGCCTTGGCTCTGGCACCCCTGGGGAGGGGAGAGATGGGAGGGAGACTGGTGCTGGGGGCCCTGAGCAGATGGAGTCTTTCTGCCCGTGCCTGGAGCTCAGGGGACCAGAGTGAGCACCGGCTGGCGCTGAAAAACATTGCGAGCATGGTGCGGGCAGGGGGCCTACTGGTCATTGATCATCGCAACTACGACCACATCCTCAGTACAGGCTGTGCACCCCCAGGGAAGAACATCTACTATAAGGTGGGGCCCTCTGGGGTGGGGGTGGGGGTGGGGGTGGGGGTGGGGTGGAGGGAGGGTCCAGTGGCCCCAAGGTGGGTTACAGAGGCTAATGCCGGCTGCCCCACCACCTACAGAGTGACTTGACCAAGGACGTCACAACATCAGTGCTGATAGTGAACAACAAGGCCCACATGGTGACCCTGGACTATACGGTGCAGGTGCCGGGGGCTGGCCAGGATGGCTCTCCTGGCTTGAGGTACCACTTGGCTTAGTGGGGGTGAGGCGGTAGTTGGGGGAGCTGAGGTCACCAGTCCTCATGGTTGCTGGGGCCTCTGTTACAGTAAGTTCCGGCTCTCCTACTACCCACACTGTCTGGCATCCTTCACGGAGCTGCTCCAAGCAGCCTTCGGAGGTAAGTGCCAGCACAGCGTCCTGGGCGACTTCAAGCCTTACAAGCCAGGCCAAACCTACATTCCCTGCTACTTCATCCACGTGCTCAAGAGGACAGACTGAGTGTGGCCTCAGCTCCCACAAGCCTCTGCCCAGGCACTGCTAGGCTCTGTCTGGAAGATGGGGACCAGCAGCCCCACACCAGGGCCAGCCTCTAGAGCAGACTACAGCTGGGGTGCAGGGATGTGGGTTCCACAGACGGAAGGGTAAACAATATAGTCTTTTTCAGTTCCTGCATGCATTGTGTTTATTTATGTCAGAAGGATCAGGCTCCCATGCTGCCCACCCCCCCACCCTCTCCCAGGGCTTACTCCTCCCACAACCCTGCTCTTTCTCACTCCAACCTTTCATGCCACAACACCAGTAGGGGGCGGGACATGCTTTATTTTCAGCCACAGAACTAGCCCTCTCAGGGCCCAATCCCCAGAACCCAAGGCCCTGGCCCTCTTCCTGAGTAGATGGGCCTTTCTCTTAGAGCCGGCCTGGAAGGAGGGGCAAGTAGGCAGGAGATATCTCTTGAGCTGTTGCTGCTGTCTCAATGCCACTTTGCACCCTGGGATCTCCTGGAGGGAGGTGGCCTCCAGGTGGGTTGGCAGCAGCCTGAGGAGGAGCCCTTCCTTCCCAGATCTCTCTGTGGGCTATCAAGGTACCTGCAGCCATGCTGAGCGGGGTCCCAGACCCTGGGGGGCTCCTAGCAGGCAGCAAACTTGCGCTGGATGCGCTTGTACCGGAGCAGCTCCTGCTCACTGACTGAGGGTTGCAGCCGGGCGGCAGCCTGCAGCAAGTCCTCCATGGTGAGCATCAGTGCTGAGCTACCTGGCTCCAGCCCTGGAGATGACAAGGTGGGGAGGCTGTGGTCTATGCCCAGGCAGGGGAGAGCCCTGCGAAGGTGGCTTCCTGCTCAGGGTCTCCTAGATGTCAATGATCTTCCCTCTGGAATCCAGGACTAGGTTTGTCTCCCACTAGTTTTTTTTTTCCCTTAAACATTTTTTTTAGAGTTGGGGTCTCTCTGTGTTGCCCAGGCTGGCCTCAAACTCCTGGGCTCAAGCGATCCTCCCACCTCAGCCTCTCAAGTAGCTGGGACTCAGGTGCACCCAGCTCCCCACTAGCTTTTTGGTTGACCTCTCAGACCGGCAAGTGGCTCACCTTCCTCCAGGTCATGAACCCTGCGTTTGAGGGCAGCTGTCATAGCATCAGAGCAGAGAGAGTAGAGGTCCGCGCCCGTCAGCTGGGGAGGGAAGCAATCTAGCACGTTTACCAGGCTCACAGATGGCTCTAGCTTGAATCTGTTGTGGGATACAGGAAGAAACAGAGTTGGCATCACCTCCTCCCTCGAAAGCCAGTGCTGACCAGCTCATCCTGCATGTTGCATGCATCCCCTAAGCATCCCAAGGCCCAAGCCCTTCGCAGTCTTCCTCTAACAGAGCATACTTGCGTGTGATGGCACTTAGAACGCGTAGCTGGGAGGCCCGGTCCTCATTTGCCCCCACAAACACCAGCTTGTCAAATCTTTAGGGAGATAGGCAGGTATAAGTTTCAGGGAGCCCAGCCATGAGGGGTGAAGGAGGCACAAAATGAGGGTGGAGATGAGCAGTACAAGGGGCCCACCTGCCAGGCCGCAGAAGGGCAGGGTCCAGGAGATCTGGTCTGTTGGTGGCTCCAATCACAAACACATCCTGAGTGCTGTGCAGCCCATCTAGCTCGGCAAGGAGCTGAGACACCACCCTGGAGAGAAGGGAGCAAGGGCAAGAGTCCTTGGTGTCCCCCTTAGACTCTGCCCCTGCCTGTGGTACCTCTCTTTACAGGCAGTCTCAACAGGGCCCTCCACTCAGCTGTGCCCAATGTGCCCCACCAGGTAGGCCCCCATTCTCCTCAGTGGACCCTGCCCAATTTCATGGCCCCTTTCAGCTTCCATTATATTATCTCAGAACTGAAACAGCAGGAACTTCTATCTCTGGACTCTGAAGACTGCTGTGAGCTTTCTCATATCCTTCCCACCCTGGACCCCTCAGCTTTCATTCCCACTCAGACCCCTACCTGTCCATCACTCCTCCAGAATCTCCACTTCGCCCCCGGCTTGGGGCCAAAGAGTCCAGTTCATCAAAGAAGATAATGCATGGAGCTGCAGCCCTGGCCCTGGCAAACACTGAAGAGAGAGAGGGGCCCACAGGAGGGCAAAGCTCGGCTTGTGGGGGGTTGAAGTTAGGTGAGAGCAGGGAGGGAAACTGGGGCCTGACAATACAGCACTGGCATCCCAGGTACTAGACCCAGCTGGGCAGGAACCTGACTTGTAGAAAGGAGGATTAGGAATGATCATGAGTAGCCTGGGAGTAGGGGGTGGCTTGGGGGCCATCGGGGTTTGGGAAGCATGGGACGCCCTGCCCCTCCCTGCTCACTCACCTTCCCGCACATTCTCCTCACTTTGGCCCACATACATGTTAATGAGCTCTGGCCCCTTCACGCTGAGTGAGAGGATGTGAGAAGGTGAGAGCCGTCAGATGCACATACACACAATTGACCTCTTGGGCAGCCCCTCCTGCTCCCCAGCCTGCTGCAGCCCCTGATCCACCCACCATCCCTTCCAGGCCCCCTGGCCACCTGAGGAAGGTAAGGCTGCACTCAGTGGCTACTGCCTTGGCCAGAAGGGTCTTGCCGGTGCCAGGGGGCCCATGGAGCAGAAGGCCTGAGCGTCTCAGGCCCAGGCTCAGTAGCTCAGGGTGCTCCAGGGGGAGCTGAATGGTCTCCAGGATCTCCTTCTTCACCTCCTGCAGCCCACCCACATCATGCCAGGACACTGAGGGGATCTAGGAGATGGAAAGTGCGTGGTTGGGATATGCTCTTGGAGGGGCTCCTGTCCCACCTCCAAGGACTTGGTCTCCACCTTGGGGGCTCCAACGGCCTGGGAGTGAGCTGTCTGCAGTTGCTCCAGTGCCTGCCCAAAGTCCTCAGCCAGGAGAGGAAAGCCGGCAGCACACAGCTCCCCCTCATCCTCCTCAGTCAAGCCACCTGCCAAACTGCAAAGAGGAACACAGGGAAGCCTCCTCACCATCAGCGTCCCATTCCCTTCTCCCTTCCTCACCACCCACCCATCTACATCCATTTCCTCTTTCCGCCTTTCCGGTGCCCACGTCCTCTTACCCTGAGTTCTTGATCCTGGTGCAGGCTGCCCGGCTGCTGTGGGTCAGAAGGGCATAGAGATCCCCTACCACAAAGCCCTAGGGAACCACAGGAAAGGACACATGAGCAGGGCACAGTAGGCAGGAACCTTCAGGGACCGTCCCCCAGC
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Task1_train_10336
|
A genomic change on Chromosome 6 affects PEX6 (peroxisomal biogenesis factor 6). Classify this variant as benign or pathogenic, and name the disease if relevant.
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Pathogenic; Peroxisome biogenesis disorder 4A (Zellweger)
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GGCCCTGAGCAGATGGAGTCTTTCTGCCCGTGCCTGGAGCTCAGGGGACCAGAGTGAGCACCGGCTGGCGCTGAAAAACATTGCGAGCATGGTGCGGGCAGGGGGCCTACTGGTCATTGATCATCGCAACTACGACCACATCCTCAGTACAGGCTGTGCACCCCCAGGGAAGAACATCTACTATAAGGTGGGGCCCTCTGGGGTGGGGGTGGGGGTGGGGGTGGGGGTGGGGTGGAGGGAGGGTCCAGTGGCCCCAAGGTGGGTTACAGAGGCTAATGCCGGCTGCCCCACCACCTACAGAGTGACTTGACCAAGGACGTCACAACATCAGTGCTGATAGTGAACAACAAGGCCCACATGGTGACCCTGGACTATACGGTGCAGGTGCCGGGGGCTGGCCAGGATGGCTCTCCTGGCTTGAGGTACCACTTGGCTTAGTGGGGGTGAGGCGGTAGTTGGGGGAGCTGAGGTCACCAGTCCTCATGGTTGCTGGGGCCTCTGTTACAGTAAGTTCCGGCTCTCCTACTACCCACACTGTCTGGCATCCTTCACGGAGCTGCTCCAAGCAGCCTTCGGAGGTAAGTGCCAGCACAGCGTCCTGGGCGACTTCAAGCCTTACAAGCCAGGCCAAACCTACATTCCCTGCTACTTCATCCACGTGCTCAAGAGGACAGACTGAGTGTGGCCTCAGCTCCCACAAGCCTCTGCCCAGGCACTGCTAGGCTCTGTCTGGAAGATGGGGACCAGCAGCCCCACACCAGGGCCAGCCTCTAGAGCAGACTACAGCTGGGGTGCAGGGATGTGGGTTCCACAGACGGAAGGGTAAACAATATAGTCTTTTTCAGTTCCTGCATGCATTGTGTTTATTTATGTCAGAAGGATCAGGCTCCCATGCTGCCCACCCCCCCACCCTCTCCCAGGGCTTACTCCTCCCACAACCCTGCTCTTTCTCACTCCAACCTTTCATGCCACAACACCAGTAGGGGGCGGGACATGCTTTATTTTCAGCCACAGAACTAGCCCTCTCAGGGCCCAATCCCCAGAACCCAAGGCCCTGGCCCTCTTCCTGAGTAGATGGGCCTTTCTCTTAGAGCCGGCCTGGAAGGAGGGGCAAGTAGGCAGGAGATATCTCTTGAGCTGTTGCTGCTGTCTCAATGCCACTTTGCACCCTGGGATCTCCTGGAGGGAGGTGGCCTCCAGGTGGGTTGGCAGCAGCCTGAGGAGGAGCCCTTCCTTCCCAGATCTCTCTGTGGGCTATCAAGGTACCTGCAGCCATGCTGAGCGGGGTCCCAGACCCTGGGGGGCTCCTAGCAGGCAGCAAACTTGCGCTGGATGCGCTTGTACCGGAGCAGCTCCTGCTCACTGACTGAGGGTTGCAGCCGGGCGGCAGCCTGCAGCAAGTCCTCCATGGTGAGCATCAGTGCTGAGCTACCTGGCTCCAGCCCTGGAGATGACAAGGTGGGGAGGCTGTGGTCTATGCCCAGGCAGGGGAGAGCCCTGCGAAGGTGGCTTCCTGCTCAGGGTCTCCTAGATGTCAATGATCTTCCCTCTGGAATCCAGGACTAGGTTTGTCTCCCACTAGTTTTTTTTTTCCCTTAAACATTTTTTTTAGAGTTGGGGTCTCTCTGTGTTGCCCAGGCTGGCCTCAAACTCCTGGGCTCAAGCGATCCTCCCACCTCAGCCTCTCAAGTAGCTGGGACTCAGGTGCACCCAGCTCCCCACTAGCTTTTTGGTTGACCTCTCAGACCGGCAAGTGGCTCACCTTCCTCCAGGTCATGAACCCTGCGTTTGAGGGCAGCTGTCATAGCATCAGAGCAGAGAGAGTAGAGGTCCGCGCCCGTCAGCTGGGGAGGGCAGCAATCTAGCACGTTTACCAGGCTCACAGATGGCTCTAGCTTGAATCTGTTGTGGGATACAGGAAGAAACAGAGTTGGCATCACCTCCTCCCTCGAAAGCCAGTGCTGACCAGCTCATCCTGCATGTTGCATGCATCCCCTAAGCATCCCAAGGCCCAAGCCCTTCGCAGTCTTCCTCTAACAGAGCATACTTGCGTGTGATGGCACTTAGAACGCGTAGCTGGGAGGCCCGGTCCTCATTTGCCCCCACAAACACCAGCTTGTCAAATCTTTAGGGAGATAGGCAGGTATAAGTTTCAGGGAGCCCAGCCATGAGGGGTGAAGGAGGCACAAAATGAGGGTGGAGATGAGCAGTACAAGGGGCCCACCTGCCAGGCCGCAGAAGGGCAGGGTCCAGGAGATCTGGTCTGTTGGTGGCTCCAATCACAAACACATCCTGAGTGCTGTGCAGCCCATCTAGCTCGGCAAGGAGCTGAGACACCACCCTGGAGAGAAGGGAGCAAGGGCAAGAGTCCTTGGTGTCCCCCTTAGACTCTGCCCCTGCCTGTGGTACCTCTCTTTACAGGCAGTCTCAACAGGGCCCTCCACTCAGCTGTGCCCAATGTGCCCCACCAGGTAGGCCCCCATTCTCCTCAGTGGACCCTGCCCAATTTCATGGCCCCTTTCAGCTTCCATTATATTATCTCAGAACTGAAACAGCAGGAACTTCTATCTCTGGACTCTGAAGACTGCTGTGAGCTTTCTCATATCCTTCCCACCCTGGACCCCTCAGCTTTCATTCCCACTCAGACCCCTACCTGTCCATCACTCCTCCAGAATCTCCACTTCGCCCCCGGCTTGGGGCCAAAGAGTCCAGTTCATCAAAGAAGATAATGCATGGAGCTGCAGCCCTGGCCCTGGCAAACACTGAAGAGAGAGAGGGGCCCACAGGAGGGCAAAGCTCGGCTTGTGGGGGGTTGAAGTTAGGTGAGAGCAGGGAGGGAAACTGGGGCCTGACAATACAGCACTGGCATCCCAGGTACTAGACCCAGCTGGGCAGGAACCTGACTTGTAGAAAGGAGGATTAGGAATGATCATGAGTAGCCTGGGAGTAGGGGGTGGCTTGGGGGCCATCGGGGTTTGGGAAGCATGGGACGCCCTGCCCCTCCCTGCTCACTCACCTTCCCGCACATTCTCCTCACTTTGGCCCACATACATGTTAATGAGCTCTGGCCCCTTCACGCTGAGTGAGAGGATGTGAGAAGGTGAGAGCCGTCAGATGCACATACACACAATTGACCTCTTGGGCAGCCCCTCCTGCTCCCCAGCCTGCTGCAGCCCCTGATCCACCCACCATCCCTTCCAGGCCCCCTGGCCACCTGAGGAAGGTAAGGCTGCACTCAGTGGCTACTGCCTTGGCCAGAAGGGTCTTGCCGGTGCCAGGGGGCCCATGGAGCAGAAGGCCTGAGCGTCTCAGGCCCAGGCTCAGTAGCTCAGGGTGCTCCAGGGGGAGCTGAATGGTCTCCAGGATCTCCTTCTTCACCTCCTGCAGCCCACCCACATCATGCCAGGACACTGAGGGGATCTAGGAGATGGAAAGTGCGTGGTTGGGATATGCTCTTGGAGGGGCTCCTGTCCCACCTCCAAGGACTTGGTCTCCACCTTGGGGGCTCCAACGGCCTGGGAGTGAGCTGTCTGCAGTTGCTCCAGTGCCTGCCCAAAGTCCTCAGCCAGGAGAGGAAAGCCGGCAGCACACAGCTCCCCCTCATCCTCCTCAGTCAAGCCACCTGCCAAACTGCAAAGAGGAACACAGGGAAGCCTCCTCACCATCAGCGTCCCATTCCCTTCTCCCTTCCTCACCACCCACCCATCTACATCCATTTCCTCTTTCCGCCTTTCCGGTGCCCACGTCCTCTTACCCTGAGTTCTTGATCCTGGTGCAGGCTGCCCGGCTGCTGTGGGTCAGAAGGGCATAGAGATCCCCTACCACAAAGCCCTAGGGAACCACAGGAAAGGACACATGAGCAGGGCACAGTAGGCAGGAACCTTCAGGGACCGTCCCCCAGCTAGAGCAGAGGCCCTCTGTTGATGCCTTAGGTTTGTTGTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTTTTGCTCTTGTTGCTCAGGCTGGAGTGCAATGGCGCGATCTCGGCTCACCGCAACTTCCACCCGGGTTCAAGCGATTATCTCACCTCAGCCTCCCAAGTAGCTGGGATTACAGGCATGTGCCAC
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GGCCCTGAGCAGATGGAGTCTTTCTGCCCGTGCCTGGAGCTCAGGGGACCAGAGTGAGCACCGGCTGGCGCTGAAAAACATTGCGAGCATGGTGCGGGCAGGGGGCCTACTGGTCATTGATCATCGCAACTACGACCACATCCTCAGTACAGGCTGTGCACCCCCAGGGAAGAACATCTACTATAAGGTGGGGCCCTCTGGGGTGGGGGTGGGGGTGGGGGTGGGGGTGGGGTGGAGGGAGGGTCCAGTGGCCCCAAGGTGGGTTACAGAGGCTAATGCCGGCTGCCCCACCACCTACAGAGTGACTTGACCAAGGACGTCACAACATCAGTGCTGATAGTGAACAACAAGGCCCACATGGTGACCCTGGACTATACGGTGCAGGTGCCGGGGGCTGGCCAGGATGGCTCTCCTGGCTTGAGGTACCACTTGGCTTAGTGGGGGTGAGGCGGTAGTTGGGGGAGCTGAGGTCACCAGTCCTCATGGTTGCTGGGGCCTCTGTTACAGTAAGTTCCGGCTCTCCTACTACCCACACTGTCTGGCATCCTTCACGGAGCTGCTCCAAGCAGCCTTCGGAGGTAAGTGCCAGCACAGCGTCCTGGGCGACTTCAAGCCTTACAAGCCAGGCCAAACCTACATTCCCTGCTACTTCATCCACGTGCTCAAGAGGACAGACTGAGTGTGGCCTCAGCTCCCACAAGCCTCTGCCCAGGCACTGCTAGGCTCTGTCTGGAAGATGGGGACCAGCAGCCCCACACCAGGGCCAGCCTCTAGAGCAGACTACAGCTGGGGTGCAGGGATGTGGGTTCCACAGACGGAAGGGTAAACAATATAGTCTTTTTCAGTTCCTGCATGCATTGTGTTTATTTATGTCAGAAGGATCAGGCTCCCATGCTGCCCACCCCCCCACCCTCTCCCAGGGCTTACTCCTCCCACAACCCTGCTCTTTCTCACTCCAACCTTTCATGCCACAACACCAGTAGGGGGCGGGACATGCTTTATTTTCAGCCACAGAACTAGCCCTCTCAGGGCCCAATCCCCAGAACCCAAGGCCCTGGCCCTCTTCCTGAGTAGATGGGCCTTTCTCTTAGAGCCGGCCTGGAAGGAGGGGCAAGTAGGCAGGAGATATCTCTTGAGCTGTTGCTGCTGTCTCAATGCCACTTTGCACCCTGGGATCTCCTGGAGGGAGGTGGCCTCCAGGTGGGTTGGCAGCAGCCTGAGGAGGAGCCCTTCCTTCCCAGATCTCTCTGTGGGCTATCAAGGTACCTGCAGCCATGCTGAGCGGGGTCCCAGACCCTGGGGGGCTCCTAGCAGGCAGCAAACTTGCGCTGGATGCGCTTGTACCGGAGCAGCTCCTGCTCACTGACTGAGGGTTGCAGCCGGGCGGCAGCCTGCAGCAAGTCCTCCATGGTGAGCATCAGTGCTGAGCTACCTGGCTCCAGCCCTGGAGATGACAAGGTGGGGAGGCTGTGGTCTATGCCCAGGCAGGGGAGAGCCCTGCGAAGGTGGCTTCCTGCTCAGGGTCTCCTAGATGTCAATGATCTTCCCTCTGGAATCCAGGACTAGGTTTGTCTCCCACTAGTTTTTTTTTTCCCTTAAACATTTTTTTTAGAGTTGGGGTCTCTCTGTGTTGCCCAGGCTGGCCTCAAACTCCTGGGCTCAAGCGATCCTCCCACCTCAGCCTCTCAAGTAGCTGGGACTCAGGTGCACCCAGCTCCCCACTAGCTTTTTGGTTGACCTCTCAGACCGGCAAGTGGCTCACCTTCCTCCAGGTCATGAACCCTGCGTTTGAGGGCAGCTGTCATAGCATCAGAGCAGAGAGAGTAGAGGTCCGCGCCCGTCAGCTGGGGAGGGCAGCAATCTAGCACGTTTACCAGGCTCACAGATGGCTCTAGCTTGAATCTGTTGTGGGATACAGGAAGAAACAGAGTTGGCATCACCTCCTCCCTCGAAAGCCAGTGCTGACCAGCTCATCCTGCATGTTGCATGCATCCCCTAAGCATCCCAAGGCCCAAGCCCTTCGCAGTCTTCCTCTAACAGAGCATACTCGCGTGTGATGGCACTTAGAACGCGTAGCTGGGAGGCCCGGTCCTCATTTGCCCCCACAAACACCAGCTTGTCAAATCTTTAGGGAGATAGGCAGGTATAAGTTTCAGGGAGCCCAGCCATGAGGGGTGAAGGAGGCACAAAATGAGGGTGGAGATGAGCAGTACAAGGGGCCCACCTGCCAGGCCGCAGAAGGGCAGGGTCCAGGAGATCTGGTCTGTTGGTGGCTCCAATCACAAACACATCCTGAGTGCTGTGCAGCCCATCTAGCTCGGCAAGGAGCTGAGACACCACCCTGGAGAGAAGGGAGCAAGGGCAAGAGTCCTTGGTGTCCCCCTTAGACTCTGCCCCTGCCTGTGGTACCTCTCTTTACAGGCAGTCTCAACAGGGCCCTCCACTCAGCTGTGCCCAATGTGCCCCACCAGGTAGGCCCCCATTCTCCTCAGTGGACCCTGCCCAATTTCATGGCCCCTTTCAGCTTCCATTATATTATCTCAGAACTGAAACAGCAGGAACTTCTATCTCTGGACTCTGAAGACTGCTGTGAGCTTTCTCATATCCTTCCCACCCTGGACCCCTCAGCTTTCATTCCCACTCAGACCCCTACCTGTCCATCACTCCTCCAGAATCTCCACTTCGCCCCCGGCTTGGGGCCAAAGAGTCCAGTTCATCAAAGAAGATAATGCATGGAGCTGCAGCCCTGGCCCTGGCAAACACTGAAGAGAGAGAGGGGCCCACAGGAGGGCAAAGCTCGGCTTGTGGGGGGTTGAAGTTAGGTGAGAGCAGGGAGGGAAACTGGGGCCTGACAATACAGCACTGGCATCCCAGGTACTAGACCCAGCTGGGCAGGAACCTGACTTGTAGAAAGGAGGATTAGGAATGATCATGAGTAGCCTGGGAGTAGGGGGTGGCTTGGGGGCCATCGGGGTTTGGGAAGCATGGGACGCCCTGCCCCTCCCTGCTCACTCACCTTCCCGCACATTCTCCTCACTTTGGCCCACATACATGTTAATGAGCTCTGGCCCCTTCACGCTGAGTGAGAGGATGTGAGAAGGTGAGAGCCGTCAGATGCACATACACACAATTGACCTCTTGGGCAGCCCCTCCTGCTCCCCAGCCTGCTGCAGCCCCTGATCCACCCACCATCCCTTCCAGGCCCCCTGGCCACCTGAGGAAGGTAAGGCTGCACTCAGTGGCTACTGCCTTGGCCAGAAGGGTCTTGCCGGTGCCAGGGGGCCCATGGAGCAGAAGGCCTGAGCGTCTCAGGCCCAGGCTCAGTAGCTCAGGGTGCTCCAGGGGGAGCTGAATGGTCTCCAGGATCTCCTTCTTCACCTCCTGCAGCCCACCCACATCATGCCAGGACACTGAGGGGATCTAGGAGATGGAAAGTGCGTGGTTGGGATATGCTCTTGGAGGGGCTCCTGTCCCACCTCCAAGGACTTGGTCTCCACCTTGGGGGCTCCAACGGCCTGGGAGTGAGCTGTCTGCAGTTGCTCCAGTGCCTGCCCAAAGTCCTCAGCCAGGAGAGGAAAGCCGGCAGCACACAGCTCCCCCTCATCCTCCTCAGTCAAGCCACCTGCCAAACTGCAAAGAGGAACACAGGGAAGCCTCCTCACCATCAGCGTCCCATTCCCTTCTCCCTTCCTCACCACCCACCCATCTACATCCATTTCCTCTTTCCGCCTTTCCGGTGCCCACGTCCTCTTACCCTGAGTTCTTGATCCTGGTGCAGGCTGCCCGGCTGCTGTGGGTCAGAAGGGCATAGAGATCCCCTACCACAAAGCCCTAGGGAACCACAGGAAAGGACACATGAGCAGGGCACAGTAGGCAGGAACCTTCAGGGACCGTCCCCCAGCTAGAGCAGAGGCCCTCTGTTGATGCCTTAGGTTTGTTGTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTTTTGCTCTTGTTGCTCAGGCTGGAGTGCAATGGCGCGATCTCGGCTCACCGCAACTTCCACCCGGGTTCAAGCGATTATCTCACCTCAGCCTCCCAAGTAGCTGGGATTACAGGCATGTGCCAC
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Task1_train_10337
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A variant affecting Chromosome 6, within the gene PEX6 (peroxisomal biogenesis factor 6), has been observed. Determine if it's benign or associated with disease.
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Pathogenic; Peroxisome biogenesis disorder
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GGTGGGGCCCTCTGGGGTGGGGGTGGGGGTGGGGGTGGGGGTGGGGTGGAGGGAGGGTCCAGTGGCCCCAAGGTGGGTTACAGAGGCTAATGCCGGCTGCCCCACCACCTACAGAGTGACTTGACCAAGGACGTCACAACATCAGTGCTGATAGTGAACAACAAGGCCCACATGGTGACCCTGGACTATACGGTGCAGGTGCCGGGGGCTGGCCAGGATGGCTCTCCTGGCTTGAGGTACCACTTGGCTTAGTGGGGGTGAGGCGGTAGTTGGGGGAGCTGAGGTCACCAGTCCTCATGGTTGCTGGGGCCTCTGTTACAGTAAGTTCCGGCTCTCCTACTACCCACACTGTCTGGCATCCTTCACGGAGCTGCTCCAAGCAGCCTTCGGAGGTAAGTGCCAGCACAGCGTCCTGGGCGACTTCAAGCCTTACAAGCCAGGCCAAACCTACATTCCCTGCTACTTCATCCACGTGCTCAAGAGGACAGACTGAGTGTGGCCTCAGCTCCCACAAGCCTCTGCCCAGGCACTGCTAGGCTCTGTCTGGAAGATGGGGACCAGCAGCCCCACACCAGGGCCAGCCTCTAGAGCAGACTACAGCTGGGGTGCAGGGATGTGGGTTCCACAGACGGAAGGGTAAACAATATAGTCTTTTTCAGTTCCTGCATGCATTGTGTTTATTTATGTCAGAAGGATCAGGCTCCCATGCTGCCCACCCCCCCACCCTCTCCCAGGGCTTACTCCTCCCACAACCCTGCTCTTTCTCACTCCAACCTTTCATGCCACAACACCAGTAGGGGGCGGGACATGCTTTATTTTCAGCCACAGAACTAGCCCTCTCAGGGCCCAATCCCCAGAACCCAAGGCCCTGGCCCTCTTCCTGAGTAGATGGGCCTTTCTCTTAGAGCCGGCCTGGAAGGAGGGGCAAGTAGGCAGGAGATATCTCTTGAGCTGTTGCTGCTGTCTCAATGCCACTTTGCACCCTGGGATCTCCTGGAGGGAGGTGGCCTCCAGGTGGGTTGGCAGCAGCCTGAGGAGGAGCCCTTCCTTCCCAGATCTCTCTGTGGGCTATCAAGGTACCTGCAGCCATGCTGAGCGGGGTCCCAGACCCTGGGGGGCTCCTAGCAGGCAGCAAACTTGCGCTGGATGCGCTTGTACCGGAGCAGCTCCTGCTCACTGACTGAGGGTTGCAGCCGGGCGGCAGCCTGCAGCAAGTCCTCCATGGTGAGCATCAGTGCTGAGCTACCTGGCTCCAGCCCTGGAGATGACAAGGTGGGGAGGCTGTGGTCTATGCCCAGGCAGGGGAGAGCCCTGCGAAGGTGGCTTCCTGCTCAGGGTCTCCTAGATGTCAATGATCTTCCCTCTGGAATCCAGGACTAGGTTTGTCTCCCACTAGTTTTTTTTTTCCCTTAAACATTTTTTTTAGAGTTGGGGTCTCTCTGTGTTGCCCAGGCTGGCCTCAAACTCCTGGGCTCAAGCGATCCTCCCACCTCAGCCTCTCAAGTAGCTGGGACTCAGGTGCACCCAGCTCCCCACTAGCTTTTTGGTTGACCTCTCAGACCGGCAAGTGGCTCACCTTCCTCCAGGTCATGAACCCTGCGTTTGAGGGCAGCTGTCATAGCATCAGAGCAGAGAGAGTAGAGGTCCGCGCCCGTCAGCTGGGGAGGGCAGCAATCTAGCACGTTTACCAGGCTCACAGATGGCTCTAGCTTGAATCTGTTGTGGGATACAGGAAGAAACAGAGTTGGCATCACCTCCTCCCTCGAAAGCCAGTGCTGACCAGCTCATCCTGCATGTTGCATGCATCCCCTAAGCATCCCAAGGCCCAAGCCCTTCGCAGTCTTCCTCTAACAGAGCATACTTGCGTGTGATGGCACTTAGAACGCGTAGCTGGGAGGCCCGGTCCTCATTTGCCCCCACAAACACCAGCTTGTCAAATCTTTAGGGAGATAGGCAGGTATAAGTTTCAGGGAGCCCAGCCATGAGGGGTGAAGGAGGCACAAAATGAGGGTGGAGATGAGCAGTACAAGGGGCCCACCTGCCAGGCCGCAGAAGGGCAGGGTCCAGGAGATCTGGTCTGTTGGTGGCTCCAATCACAAACACATCCTGAGTGCTGTGCAGCCCATCTAGCTCGGCAAGGAGCTGAGACACCACCCTGGAGAGAAGGGAGCAAGGGCAAGAGTCCTTGGTGTCCCCCTTAGACTCTGCCCCTGCCTGTGGTACCTCTCTTTACAGGCAGTCTCAACAGGGCCCTCCACTCAGCTGTGCCCAATGTGCCCCACCAGGTAGGCCCCCATTCTCCTCAGTGGACCCTGCCCAATTTCATGGCCCCTTTCAGCTTCCATTATATTATCTCAGAACTGAAACAGCAGGAACTTCTATCTCTGGACTCTGAAGACTGCTGTGAGCTTTCTCATATCCTTCCCACCCTGGACCCCTCAGCTTTCATTCCCACTCAGACCCCTACCTGTCCATCACTCCTCCAGAATCTCCACTTCGCCCCCGGCTTGGGGCCAAAGAGTCCAGTTCATCAAAGAAGATAATGCATGGAGCTGCAGCCCTGGCCCTGGCAAACACTGAAGAGAGAGAGGGGCCCACAGGAGGGCAAAGCTCGGCTTGTGGGGGGTTGAAGTTAGGTGAGAGCAGGGAGGGAAACTGGGGCCTGACAATACAGCACTGGCATCCCAGGTACTAGACCCAGCTGGGCAGGAACCTGACTTGTAGAAAGGAGGATTAGGAATGATCATGAGTAGCCTGGGAGTAGGGGGTGGCTTGGGGGCCATCGGGGTTTGGGAAGCATGGGACGCCCTGCCCCTCCCTGCTCACTCACCTTCCCGCACATTCTCCTCACTTTGGCCCACATACATGTTAATGAGCTCTGGCCCCTTCACGCTGAGTGAGAGGATGTGAGAAGGTGAGAGCCGTCAGATGCACATACACACAATTGACCTCTTGGGCAGCCCCTCCTGCTCCCCAGCCTGCTGCAGCCCCTGATCCACCCACCATCCCTTCCAGGCCCCCTGGCCACCTGAGGAAGGTAAGGCTGCACTCAGTGGCTACTGCCTTGGCCAGAAGGGTCTTGCCGGTGCCAGGGGGCCCATGGAGCAGAAGGCCTGAGCGTCTCAGGCCCAGGCTCAGTAGCTCAGGGTGCTCCAGGGGGAGCTGAATGGTCTCCAGGATCTCCTTCTTCACCTCCTGCAGCCCACCCACATCATGCCAGGACACTGAGGGGATCTAGGAGATGGAAAGTGCGTGGTTGGGATATGCTCTTGGAGGGGCTCCTGTCCCACCTCCAAGGACTTGGTCTCCACCTTGGGGGCTCCAACGGCCTGGGAGTGAGCTGTCTGCAGTTGCTCCAGTGCCTGCCCAAAGTCCTCAGCCAGGAGAGGAAAGCCGGCAGCACACAGCTCCCCCTCATCCTCCTCAGTCAAGCCACCTGCCAAACTGCAAAGAGGAACACAGGGAAGCCTCCTCACCATCAGCGTCCCATTCCCTTCTCCCTTCCTCACCACCCACCCATCTACATCCATTTCCTCTTTCCGCCTTTCCGGTGCCCACGTCCTCTTACCCTGAGTTCTTGATCCTGGTGCAGGCTGCCCGGCTGCTGTGGGTCAGAAGGGCATAGAGATCCCCTACCACAAAGCCCTAGGGAACCACAGGAAAGGACACATGAGCAGGGCACAGTAGGCAGGAACCTTCAGGGACCGTCCCCCAGCTAGAGCAGAGGCCCTCTGTTGATGCCTTAGGTTTGTTGTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTTTTGCTCTTGTTGCTCAGGCTGGAGTGCAATGGCGCGATCTCGGCTCACCGCAACTTCCACCCGGGTTCAAGCGATTATCTCACCTCAGCCTCCCAAGTAGCTGGGATTACAGGCATGTGCCACCACACCTGGCTAACTTTGTATTTTTAGTAGAGACGGGGTTTCTCCATGTTGGCCAGGCTGGTCTCAAACTCCCAACCTCAGGTGATCCGCCCACCTCGGCCTCCCAAAGTGCTAGGATTACAGGCGTGAGCCACGGCGCCCGCGCTGGGTTTTCTACTCTCACTCACAAGGCAACAGGACTGAGTT
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GGTGGGGCCCTCTGGGGTGGGGGTGGGGGTGGGGGTGGGGGTGGGGTGGAGGGAGGGTCCAGTGGCCCCAAGGTGGGTTACAGAGGCTAATGCCGGCTGCCCCACCACCTACAGAGTGACTTGACCAAGGACGTCACAACATCAGTGCTGATAGTGAACAACAAGGCCCACATGGTGACCCTGGACTATACGGTGCAGGTGCCGGGGGCTGGCCAGGATGGCTCTCCTGGCTTGAGGTACCACTTGGCTTAGTGGGGGTGAGGCGGTAGTTGGGGGAGCTGAGGTCACCAGTCCTCATGGTTGCTGGGGCCTCTGTTACAGTAAGTTCCGGCTCTCCTACTACCCACACTGTCTGGCATCCTTCACGGAGCTGCTCCAAGCAGCCTTCGGAGGTAAGTGCCAGCACAGCGTCCTGGGCGACTTCAAGCCTTACAAGCCAGGCCAAACCTACATTCCCTGCTACTTCATCCACGTGCTCAAGAGGACAGACTGAGTGTGGCCTCAGCTCCCACAAGCCTCTGCCCAGGCACTGCTAGGCTCTGTCTGGAAGATGGGGACCAGCAGCCCCACACCAGGGCCAGCCTCTAGAGCAGACTACAGCTGGGGTGCAGGGATGTGGGTTCCACAGACGGAAGGGTAAACAATATAGTCTTTTTCAGTTCCTGCATGCATTGTGTTTATTTATGTCAGAAGGATCAGGCTCCCATGCTGCCCACCCCCCCACCCTCTCCCAGGGCTTACTCCTCCCACAACCCTGCTCTTTCTCACTCCAACCTTTCATGCCACAACACCAGTAGGGGGCGGGACATGCTTTATTTTCAGCCACAGAACTAGCCCTCTCAGGGCCCAATCCCCAGAACCCAAGGCCCTGGCCCTCTTCCTGAGTAGATGGGCCTTTCTCTTAGAGCCGGCCTGGAAGGAGGGGCAAGTAGGCAGGAGATATCTCTTGAGCTGTTGCTGCTGTCTCAATGCCACTTTGCACCCTGGGATCTCCTGGAGGGAGGTGGCCTCCAGGTGGGTTGGCAGCAGCCTGAGGAGGAGCCCTTCCTTCCCAGATCTCTCTGTGGGCTATCAAGGTACCTGCAGCCATGCTGAGCGGGGTCCCAGACCCTGGGGGGCTCCTAGCAGGCAGCAAACTTGCGCTGGATGCGCTTGTACCGGAGCAGCTCCTGCTCACTGACTGAGGGTTGCAGCCGGGCGGCAGCCTGCAGCAAGTCCTCCATGGTGAGCATCAGTGCTGAGCTACCTGGCTCCAGCCCTGGAGATGACAAGGTGGGGAGGCTGTGGTCTATGCCCAGGCAGGGGAGAGCCCTGCGAAGGTGGCTTCCTGCTCAGGGTCTCCTAGATGTCAATGATCTTCCCTCTGGAATCCAGGACTAGGTTTGTCTCCCACTAGTTTTTTTTTTCCCTTAAACATTTTTTTTAGAGTTGGGGTCTCTCTGTGTTGCCCAGGCTGGCCTCAAACTCCTGGGCTCAAGCGATCCTCCCACCTCAGCCTCTCAAGTAGCTGGGACTCAGGTGCACCCAGCTCCCCACTAGCTTTTTGGTTGACCTCTCAGACCGGCAAGTGGCTCACCTTCCTCCAGGTCATGAACCCTGCGTTTGAGGGCAGCTGTCATAGCATCAGAGCAGAGAGAGTAGAGGTCCGCGCCCGTCAGCTGGGGAGGGCAGCAATCTAGCACGTTTACCAGGCTCACAGATGGCTCTAGCTTGAATCTGTTGTGGGATACAGGAAGAAACAGAGTTGGCATCACCTCCTCCCTCGAAAGCCAGTGCTGACCAGCTCATCCTGCATGTTGCATGCATCCCCTAAGCATCCCAAGGCCCAAGCCCTTCGCAGTCTTCCTCTAACAGAGCATACTTGCGTGTGATGGCACTTAGAACGCGTAGCTGGGAGGCCCGGTCCTCATTTGCCCCCACAAACACCAGCTTGTCAAATCTTTAGGGAGATAGGCAGGTATAAGTTTCAGGGAGCCCAGCCATGAGGGGTGAAGGAGGCACAAAATGAGGGTGGAGATGAGCAGTACAAGGGGCCCACCTGCCAGGCCACAGAAGGGCAGGGTCCAGGAGATCTGGTCTGTTGGTGGCTCCAATCACAAACACATCCTGAGTGCTGTGCAGCCCATCTAGCTCGGCAAGGAGCTGAGACACCACCCTGGAGAGAAGGGAGCAAGGGCAAGAGTCCTTGGTGTCCCCCTTAGACTCTGCCCCTGCCTGTGGTACCTCTCTTTACAGGCAGTCTCAACAGGGCCCTCCACTCAGCTGTGCCCAATGTGCCCCACCAGGTAGGCCCCCATTCTCCTCAGTGGACCCTGCCCAATTTCATGGCCCCTTTCAGCTTCCATTATATTATCTCAGAACTGAAACAGCAGGAACTTCTATCTCTGGACTCTGAAGACTGCTGTGAGCTTTCTCATATCCTTCCCACCCTGGACCCCTCAGCTTTCATTCCCACTCAGACCCCTACCTGTCCATCACTCCTCCAGAATCTCCACTTCGCCCCCGGCTTGGGGCCAAAGAGTCCAGTTCATCAAAGAAGATAATGCATGGAGCTGCAGCCCTGGCCCTGGCAAACACTGAAGAGAGAGAGGGGCCCACAGGAGGGCAAAGCTCGGCTTGTGGGGGGTTGAAGTTAGGTGAGAGCAGGGAGGGAAACTGGGGCCTGACAATACAGCACTGGCATCCCAGGTACTAGACCCAGCTGGGCAGGAACCTGACTTGTAGAAAGGAGGATTAGGAATGATCATGAGTAGCCTGGGAGTAGGGGGTGGCTTGGGGGCCATCGGGGTTTGGGAAGCATGGGACGCCCTGCCCCTCCCTGCTCACTCACCTTCCCGCACATTCTCCTCACTTTGGCCCACATACATGTTAATGAGCTCTGGCCCCTTCACGCTGAGTGAGAGGATGTGAGAAGGTGAGAGCCGTCAGATGCACATACACACAATTGACCTCTTGGGCAGCCCCTCCTGCTCCCCAGCCTGCTGCAGCCCCTGATCCACCCACCATCCCTTCCAGGCCCCCTGGCCACCTGAGGAAGGTAAGGCTGCACTCAGTGGCTACTGCCTTGGCCAGAAGGGTCTTGCCGGTGCCAGGGGGCCCATGGAGCAGAAGGCCTGAGCGTCTCAGGCCCAGGCTCAGTAGCTCAGGGTGCTCCAGGGGGAGCTGAATGGTCTCCAGGATCTCCTTCTTCACCTCCTGCAGCCCACCCACATCATGCCAGGACACTGAGGGGATCTAGGAGATGGAAAGTGCGTGGTTGGGATATGCTCTTGGAGGGGCTCCTGTCCCACCTCCAAGGACTTGGTCTCCACCTTGGGGGCTCCAACGGCCTGGGAGTGAGCTGTCTGCAGTTGCTCCAGTGCCTGCCCAAAGTCCTCAGCCAGGAGAGGAAAGCCGGCAGCACACAGCTCCCCCTCATCCTCCTCAGTCAAGCCACCTGCCAAACTGCAAAGAGGAACACAGGGAAGCCTCCTCACCATCAGCGTCCCATTCCCTTCTCCCTTCCTCACCACCCACCCATCTACATCCATTTCCTCTTTCCGCCTTTCCGGTGCCCACGTCCTCTTACCCTGAGTTCTTGATCCTGGTGCAGGCTGCCCGGCTGCTGTGGGTCAGAAGGGCATAGAGATCCCCTACCACAAAGCCCTAGGGAACCACAGGAAAGGACACATGAGCAGGGCACAGTAGGCAGGAACCTTCAGGGACCGTCCCCCAGCTAGAGCAGAGGCCCTCTGTTGATGCCTTAGGTTTGTTGTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTTTTGCTCTTGTTGCTCAGGCTGGAGTGCAATGGCGCGATCTCGGCTCACCGCAACTTCCACCCGGGTTCAAGCGATTATCTCACCTCAGCCTCCCAAGTAGCTGGGATTACAGGCATGTGCCACCACACCTGGCTAACTTTGTATTTTTAGTAGAGACGGGGTTTCTCCATGTTGGCCAGGCTGGTCTCAAACTCCCAACCTCAGGTGATCCGCCCACCTCGGCCTCCCAAAGTGCTAGGATTACAGGCGTGAGCCACGGCGCCCGCGCTGGGTTTTCTACTCTCACTCACAAGGCAACAGGACTGAGTT
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Task1_train_10338
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This is a variant in PEX6 (peroxisomal biogenesis factor 6), located on Chromosome 6. Is this mutation a likely cause of disease or not?
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Pathogenic; Peroxisome biogenesis disorder 4A (Zellweger)
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GGTGGGGCCCTCTGGGGTGGGGGTGGGGGTGGGGGTGGGGGTGGGGTGGAGGGAGGGTCCAGTGGCCCCAAGGTGGGTTACAGAGGCTAATGCCGGCTGCCCCACCACCTACAGAGTGACTTGACCAAGGACGTCACAACATCAGTGCTGATAGTGAACAACAAGGCCCACATGGTGACCCTGGACTATACGGTGCAGGTGCCGGGGGCTGGCCAGGATGGCTCTCCTGGCTTGAGGTACCACTTGGCTTAGTGGGGGTGAGGCGGTAGTTGGGGGAGCTGAGGTCACCAGTCCTCATGGTTGCTGGGGCCTCTGTTACAGTAAGTTCCGGCTCTCCTACTACCCACACTGTCTGGCATCCTTCACGGAGCTGCTCCAAGCAGCCTTCGGAGGTAAGTGCCAGCACAGCGTCCTGGGCGACTTCAAGCCTTACAAGCCAGGCCAAACCTACATTCCCTGCTACTTCATCCACGTGCTCAAGAGGACAGACTGAGTGTGGCCTCAGCTCCCACAAGCCTCTGCCCAGGCACTGCTAGGCTCTGTCTGGAAGATGGGGACCAGCAGCCCCACACCAGGGCCAGCCTCTAGAGCAGACTACAGCTGGGGTGCAGGGATGTGGGTTCCACAGACGGAAGGGTAAACAATATAGTCTTTTTCAGTTCCTGCATGCATTGTGTTTATTTATGTCAGAAGGATCAGGCTCCCATGCTGCCCACCCCCCCACCCTCTCCCAGGGCTTACTCCTCCCACAACCCTGCTCTTTCTCACTCCAACCTTTCATGCCACAACACCAGTAGGGGGCGGGACATGCTTTATTTTCAGCCACAGAACTAGCCCTCTCAGGGCCCAATCCCCAGAACCCAAGGCCCTGGCCCTCTTCCTGAGTAGATGGGCCTTTCTCTTAGAGCCGGCCTGGAAGGAGGGGCAAGTAGGCAGGAGATATCTCTTGAGCTGTTGCTGCTGTCTCAATGCCACTTTGCACCCTGGGATCTCCTGGAGGGAGGTGGCCTCCAGGTGGGTTGGCAGCAGCCTGAGGAGGAGCCCTTCCTTCCCAGATCTCTCTGTGGGCTATCAAGGTACCTGCAGCCATGCTGAGCGGGGTCCCAGACCCTGGGGGGCTCCTAGCAGGCAGCAAACTTGCGCTGGATGCGCTTGTACCGGAGCAGCTCCTGCTCACTGACTGAGGGTTGCAGCCGGGCGGCAGCCTGCAGCAAGTCCTCCATGGTGAGCATCAGTGCTGAGCTACCTGGCTCCAGCCCTGGAGATGACAAGGTGGGGAGGCTGTGGTCTATGCCCAGGCAGGGGAGAGCCCTGCGAAGGTGGCTTCCTGCTCAGGGTCTCCTAGATGTCAATGATCTTCCCTCTGGAATCCAGGACTAGGTTTGTCTCCCACTAGTTTTTTTTTTCCCTTAAACATTTTTTTTAGAGTTGGGGTCTCTCTGTGTTGCCCAGGCTGGCCTCAAACTCCTGGGCTCAAGCGATCCTCCCACCTCAGCCTCTCAAGTAGCTGGGACTCAGGTGCACCCAGCTCCCCACTAGCTTTTTGGTTGACCTCTCAGACCGGCAAGTGGCTCACCTTCCTCCAGGTCATGAACCCTGCGTTTGAGGGCAGCTGTCATAGCATCAGAGCAGAGAGAGTAGAGGTCCGCGCCCGTCAGCTGGGGAGGGCAGCAATCTAGCACGTTTACCAGGCTCACAGATGGCTCTAGCTTGAATCTGTTGTGGGATACAGGAAGAAACAGAGTTGGCATCACCTCCTCCCTCGAAAGCCAGTGCTGACCAGCTCATCCTGCATGTTGCATGCATCCCCTAAGCATCCCAAGGCCCAAGCCCTTCGCAGTCTTCCTCTAACAGAGCATACTTGCGTGTGATGGCACTTAGAACGCGTAGCTGGGAGGCCCGGTCCTCATTTGCCCCCACAAACACCAGCTTGTCAAATCTTTAGGGAGATAGGCAGGTATAAGTTTCAGGGAGCCCAGCCATGAGGGGTGAAGGAGGCACAAAATGAGGGTGGAGATGAGCAGTACAAGGGGCCCACCTGCCAGGCCGCAGAAGGGCAGGGTCCAGGAGATCTGGTCTGTTGGTGGCTCCAATCACAAACACATCCTGAGTGCTGTGCAGCCCATCTAGCTCGGCAAGGAGCTGAGACACCACCCTGGAGAGAAGGGAGCAAGGGCAAGAGTCCTTGGTGTCCCCCTTAGACTCTGCCCCTGCCTGTGGTACCTCTCTTTACAGGCAGTCTCAACAGGGCCCTCCACTCAGCTGTGCCCAATGTGCCCCACCAGGTAGGCCCCCATTCTCCTCAGTGGACCCTGCCCAATTTCATGGCCCCTTTCAGCTTCCATTATATTATCTCAGAACTGAAACAGCAGGAACTTCTATCTCTGGACTCTGAAGACTGCTGTGAGCTTTCTCATATCCTTCCCACCCTGGACCCCTCAGCTTTCATTCCCACTCAGACCCCTACCTGTCCATCACTCCTCCAGAATCTCCACTTCGCCCCCGGCTTGGGGCCAAAGAGTCCAGTTCATCAAAGAAGATAATGCATGGAGCTGCAGCCCTGGCCCTGGCAAACACTGAAGAGAGAGAGGGGCCCACAGGAGGGCAAAGCTCGGCTTGTGGGGGGTTGAAGTTAGGTGAGAGCAGGGAGGGAAACTGGGGCCTGACAATACAGCACTGGCATCCCAGGTACTAGACCCAGCTGGGCAGGAACCTGACTTGTAGAAAGGAGGATTAGGAATGATCATGAGTAGCCTGGGAGTAGGGGGTGGCTTGGGGGCCATCGGGGTTTGGGAAGCATGGGACGCCCTGCCCCTCCCTGCTCACTCACCTTCCCGCACATTCTCCTCACTTTGGCCCACATACATGTTAATGAGCTCTGGCCCCTTCACGCTGAGTGAGAGGATGTGAGAAGGTGAGAGCCGTCAGATGCACATACACACAATTGACCTCTTGGGCAGCCCCTCCTGCTCCCCAGCCTGCTGCAGCCCCTGATCCACCCACCATCCCTTCCAGGCCCCCTGGCCACCTGAGGAAGGTAAGGCTGCACTCAGTGGCTACTGCCTTGGCCAGAAGGGTCTTGCCGGTGCCAGGGGGCCCATGGAGCAGAAGGCCTGAGCGTCTCAGGCCCAGGCTCAGTAGCTCAGGGTGCTCCAGGGGGAGCTGAATGGTCTCCAGGATCTCCTTCTTCACCTCCTGCAGCCCACCCACATCATGCCAGGACACTGAGGGGATCTAGGAGATGGAAAGTGCGTGGTTGGGATATGCTCTTGGAGGGGCTCCTGTCCCACCTCCAAGGACTTGGTCTCCACCTTGGGGGCTCCAACGGCCTGGGAGTGAGCTGTCTGCAGTTGCTCCAGTGCCTGCCCAAAGTCCTCAGCCAGGAGAGGAAAGCCGGCAGCACACAGCTCCCCCTCATCCTCCTCAGTCAAGCCACCTGCCAAACTGCAAAGAGGAACACAGGGAAGCCTCCTCACCATCAGCGTCCCATTCCCTTCTCCCTTCCTCACCACCCACCCATCTACATCCATTTCCTCTTTCCGCCTTTCCGGTGCCCACGTCCTCTTACCCTGAGTTCTTGATCCTGGTGCAGGCTGCCCGGCTGCTGTGGGTCAGAAGGGCATAGAGATCCCCTACCACAAAGCCCTAGGGAACCACAGGAAAGGACACATGAGCAGGGCACAGTAGGCAGGAACCTTCAGGGACCGTCCCCCAGCTAGAGCAGAGGCCCTCTGTTGATGCCTTAGGTTTGTTGTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTTTTGCTCTTGTTGCTCAGGCTGGAGTGCAATGGCGCGATCTCGGCTCACCGCAACTTCCACCCGGGTTCAAGCGATTATCTCACCTCAGCCTCCCAAGTAGCTGGGATTACAGGCATGTGCCACCACACCTGGCTAACTTTGTATTTTTAGTAGAGACGGGGTTTCTCCATGTTGGCCAGGCTGGTCTCAAACTCCCAACCTCAGGTGATCCGCCCACCTCGGCCTCCCAAAGTGCTAGGATTACAGGCGTGAGCCACGGCGCCCGCGCTGGGTTTTCTACTCTCACTCACAAGGCAACAGGACTGAGTT
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GGTGGGGCCCTCTGGGGTGGGGGTGGGGGTGGGGGTGGGGGTGGGGTGGAGGGAGGGTCCAGTGGCCCCAAGGTGGGTTACAGAGGCTAATGCCGGCTGCCCCACCACCTACAGAGTGACTTGACCAAGGACGTCACAACATCAGTGCTGATAGTGAACAACAAGGCCCACATGGTGACCCTGGACTATACGGTGCAGGTGCCGGGGGCTGGCCAGGATGGCTCTCCTGGCTTGAGGTACCACTTGGCTTAGTGGGGGTGAGGCGGTAGTTGGGGGAGCTGAGGTCACCAGTCCTCATGGTTGCTGGGGCCTCTGTTACAGTAAGTTCCGGCTCTCCTACTACCCACACTGTCTGGCATCCTTCACGGAGCTGCTCCAAGCAGCCTTCGGAGGTAAGTGCCAGCACAGCGTCCTGGGCGACTTCAAGCCTTACAAGCCAGGCCAAACCTACATTCCCTGCTACTTCATCCACGTGCTCAAGAGGACAGACTGAGTGTGGCCTCAGCTCCCACAAGCCTCTGCCCAGGCACTGCTAGGCTCTGTCTGGAAGATGGGGACCAGCAGCCCCACACCAGGGCCAGCCTCTAGAGCAGACTACAGCTGGGGTGCAGGGATGTGGGTTCCACAGACGGAAGGGTAAACAATATAGTCTTTTTCAGTTCCTGCATGCATTGTGTTTATTTATGTCAGAAGGATCAGGCTCCCATGCTGCCCACCCCCCCACCCTCTCCCAGGGCTTACTCCTCCCACAACCCTGCTCTTTCTCACTCCAACCTTTCATGCCACAACACCAGTAGGGGGCGGGACATGCTTTATTTTCAGCCACAGAACTAGCCCTCTCAGGGCCCAATCCCCAGAACCCAAGGCCCTGGCCCTCTTCCTGAGTAGATGGGCCTTTCTCTTAGAGCCGGCCTGGAAGGAGGGGCAAGTAGGCAGGAGATATCTCTTGAGCTGTTGCTGCTGTCTCAATGCCACTTTGCACCCTGGGATCTCCTGGAGGGAGGTGGCCTCCAGGTGGGTTGGCAGCAGCCTGAGGAGGAGCCCTTCCTTCCCAGATCTCTCTGTGGGCTATCAAGGTACCTGCAGCCATGCTGAGCGGGGTCCCAGACCCTGGGGGGCTCCTAGCAGGCAGCAAACTTGCGCTGGATGCGCTTGTACCGGAGCAGCTCCTGCTCACTGACTGAGGGTTGCAGCCGGGCGGCAGCCTGCAGCAAGTCCTCCATGGTGAGCATCAGTGCTGAGCTACCTGGCTCCAGCCCTGGAGATGACAAGGTGGGGAGGCTGTGGTCTATGCCCAGGCAGGGGAGAGCCCTGCGAAGGTGGCTTCCTGCTCAGGGTCTCCTAGATGTCAATGATCTTCCCTCTGGAATCCAGGACTAGGTTTGTCTCCCACTAGTTTTTTTTTTCCCTTAAACATTTTTTTTAGAGTTGGGGTCTCTCTGTGTTGCCCAGGCTGGCCTCAAACTCCTGGGCTCAAGCGATCCTCCCACCTCAGCCTCTCAAGTAGCTGGGACTCAGGTGCACCCAGCTCCCCACTAGCTTTTTGGTTGACCTCTCAGACCGGCAAGTGGCTCACCTTCCTCCAGGTCATGAACCCTGCGTTTGAGGGCAGCTGTCATAGCATCAGAGCAGAGAGAGTAGAGGTCCGCGCCCGTCAGCTGGGGAGGGCAGCAATCTAGCACGTTTACCAGGCTCACAGATGGCTCTAGCTTGAATCTGTTGTGGGATACAGGAAGAAACAGAGTTGGCATCACCTCCTCCCTCGAAAGCCAGTGCTGACCAGCTCATCCTGCATGTTGCATGCATCCCCTAAGCATCCCAAGGCCCAAGCCCTTCGCAGTCTTCCTCTAACAGAGCATACTTGCGTGTGATGGCACTTAGAACGCGTAGCTGGGAGGCCCGGTCCTCATTTGCCCCCACAAACACCAGCTTGTCAAATCTTTAGGGAGATAGGCAGGTATAAGTTTCAGGGAGCCCAGCCATGAGGGGTGAAGGAGGCACAAAATGAGGGTGGAGATGAGCAGTACAAGGGGCCCACCTGCCAGGCCACAGAAGGGCAGGGTCCAGGAGATCTGGTCTGTTGGTGGCTCCAATCACAAACACATCCTGAGTGCTGTGCAGCCCATCTAGCTCGGCAAGGAGCTGAGACACCACCCTGGAGAGAAGGGAGCAAGGGCAAGAGTCCTTGGTGTCCCCCTTAGACTCTGCCCCTGCCTGTGGTACCTCTCTTTACAGGCAGTCTCAACAGGGCCCTCCACTCAGCTGTGCCCAATGTGCCCCACCAGGTAGGCCCCCATTCTCCTCAGTGGACCCTGCCCAATTTCATGGCCCCTTTCAGCTTCCATTATATTATCTCAGAACTGAAACAGCAGGAACTTCTATCTCTGGACTCTGAAGACTGCTGTGAGCTTTCTCATATCCTTCCCACCCTGGACCCCTCAGCTTTCATTCCCACTCAGACCCCTACCTGTCCATCACTCCTCCAGAATCTCCACTTCGCCCCCGGCTTGGGGCCAAAGAGTCCAGTTCATCAAAGAAGATAATGCATGGAGCTGCAGCCCTGGCCCTGGCAAACACTGAAGAGAGAGAGGGGCCCACAGGAGGGCAAAGCTCGGCTTGTGGGGGGTTGAAGTTAGGTGAGAGCAGGGAGGGAAACTGGGGCCTGACAATACAGCACTGGCATCCCAGGTACTAGACCCAGCTGGGCAGGAACCTGACTTGTAGAAAGGAGGATTAGGAATGATCATGAGTAGCCTGGGAGTAGGGGGTGGCTTGGGGGCCATCGGGGTTTGGGAAGCATGGGACGCCCTGCCCCTCCCTGCTCACTCACCTTCCCGCACATTCTCCTCACTTTGGCCCACATACATGTTAATGAGCTCTGGCCCCTTCACGCTGAGTGAGAGGATGTGAGAAGGTGAGAGCCGTCAGATGCACATACACACAATTGACCTCTTGGGCAGCCCCTCCTGCTCCCCAGCCTGCTGCAGCCCCTGATCCACCCACCATCCCTTCCAGGCCCCCTGGCCACCTGAGGAAGGTAAGGCTGCACTCAGTGGCTACTGCCTTGGCCAGAAGGGTCTTGCCGGTGCCAGGGGGCCCATGGAGCAGAAGGCCTGAGCGTCTCAGGCCCAGGCTCAGTAGCTCAGGGTGCTCCAGGGGGAGCTGAATGGTCTCCAGGATCTCCTTCTTCACCTCCTGCAGCCCACCCACATCATGCCAGGACACTGAGGGGATCTAGGAGATGGAAAGTGCGTGGTTGGGATATGCTCTTGGAGGGGCTCCTGTCCCACCTCCAAGGACTTGGTCTCCACCTTGGGGGCTCCAACGGCCTGGGAGTGAGCTGTCTGCAGTTGCTCCAGTGCCTGCCCAAAGTCCTCAGCCAGGAGAGGAAAGCCGGCAGCACACAGCTCCCCCTCATCCTCCTCAGTCAAGCCACCTGCCAAACTGCAAAGAGGAACACAGGGAAGCCTCCTCACCATCAGCGTCCCATTCCCTTCTCCCTTCCTCACCACCCACCCATCTACATCCATTTCCTCTTTCCGCCTTTCCGGTGCCCACGTCCTCTTACCCTGAGTTCTTGATCCTGGTGCAGGCTGCCCGGCTGCTGTGGGTCAGAAGGGCATAGAGATCCCCTACCACAAAGCCCTAGGGAACCACAGGAAAGGACACATGAGCAGGGCACAGTAGGCAGGAACCTTCAGGGACCGTCCCCCAGCTAGAGCAGAGGCCCTCTGTTGATGCCTTAGGTTTGTTGTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTTTTGCTCTTGTTGCTCAGGCTGGAGTGCAATGGCGCGATCTCGGCTCACCGCAACTTCCACCCGGGTTCAAGCGATTATCTCACCTCAGCCTCCCAAGTAGCTGGGATTACAGGCATGTGCCACCACACCTGGCTAACTTTGTATTTTTAGTAGAGACGGGGTTTCTCCATGTTGGCCAGGCTGGTCTCAAACTCCCAACCTCAGGTGATCCGCCCACCTCGGCCTCCCAAAGTGCTAGGATTACAGGCGTGAGCCACGGCGCCCGCGCTGGGTTTTCTACTCTCACTCACAAGGCAACAGGACTGAGTT
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Task1_train_10339
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Here is a variant affecting PEX6 (peroxisomal biogenesis factor 6) on Chromosome 6. Please identify whether it is a benign mutation or associated with a disorder.
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Pathogenic; Peroxisome biogenesis disorder 4B
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GAGCGTCTCAGGCCCAGGCTCAGTAGCTCAGGGTGCTCCAGGGGGAGCTGAATGGTCTCCAGGATCTCCTTCTTCACCTCCTGCAGCCCACCCACATCATGCCAGGACACTGAGGGGATCTAGGAGATGGAAAGTGCGTGGTTGGGATATGCTCTTGGAGGGGCTCCTGTCCCACCTCCAAGGACTTGGTCTCCACCTTGGGGGCTCCAACGGCCTGGGAGTGAGCTGTCTGCAGTTGCTCCAGTGCCTGCCCAAAGTCCTCAGCCAGGAGAGGAAAGCCGGCAGCACACAGCTCCCCCTCATCCTCCTCAGTCAAGCCACCTGCCAAACTGCAAAGAGGAACACAGGGAAGCCTCCTCACCATCAGCGTCCCATTCCCTTCTCCCTTCCTCACCACCCACCCATCTACATCCATTTCCTCTTTCCGCCTTTCCGGTGCCCACGTCCTCTTACCCTGAGTTCTTGATCCTGGTGCAGGCTGCCCGGCTGCTGTGGGTCAGAAGGGCATAGAGATCCCCTACCACAAAGCCCTAGGGAACCACAGGAAAGGACACATGAGCAGGGCACAGTAGGCAGGAACCTTCAGGGACCGTCCCCCAGCTAGAGCAGAGGCCCTCTGTTGATGCCTTAGGTTTGTTGTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTTTTGCTCTTGTTGCTCAGGCTGGAGTGCAATGGCGCGATCTCGGCTCACCGCAACTTCCACCCGGGTTCAAGCGATTATCTCACCTCAGCCTCCCAAGTAGCTGGGATTACAGGCATGTGCCACCACACCTGGCTAACTTTGTATTTTTAGTAGAGACGGGGTTTCTCCATGTTGGCCAGGCTGGTCTCAAACTCCCAACCTCAGGTGATCCGCCCACCTCGGCCTCCCAAAGTGCTAGGATTACAGGCGTGAGCCACGGCGCCCGCGCTGGGTTTTCTACTCTCACTCACAAGGCAACAGGACTGAGTTCTTGTAACAAAAGCCAGGGACCTCCTAGGGAGGGCCAGTACTCTCCCTTGATACTCACTGCACACCGCCGTGCTAGCTGTGCCAAGTTCACCTCCTGGCCCAGGGGAAGGTGGGCAGTGAGGGCCCGCAGGATGCTGAGCCGCTGCCCCTCTGACAGAGCAGGCACCTCGAGCTCATGAGGAAATGCTGTCTGCACATCAGCAGGCAGGTCCTGGGCCCGGCTTGTGGTGGCCACAACCATGAGGGGAGGGCAGCTGCAGACAGAGGAGTGGGCACTGAGGGTGAGAACATGGCTGGCAGCTCCTGTGGACTGCCTTGTCCCAAAGTCGGCACAGAAGGGCAGGGAAGTGAGGTGGGTGCTAGGATGGGGTAGGGAGATGAGCATCTACCCCAGTTCCTAGATGGGGGAACTGTGTTTCCCCCATCACATTGAGGGCAGAGGCTTTTTCTTTAACCGAGTGTTCCCCAAGAAATGCTAGACCACAGACTCCTCCCTCTGGATCCCTCTAAAGACACGGAGCTCAGGGCTGTCTAGAGGGCAGCCAAATGGATGGGAGATGACTGAGAAGCCACTGAGGGGTGAGAGAAGGGAGGACTGAAAGGCTGAAAAGTAGGAGGGCTGGCCCCCCCGCTCCCCCTTTTTTTTTTTTTTTTAAGACTGAGTCTTGCTCTTGTCGCCCAGGCTGGAGTGCAATGGTATGATTTTGGCTCACTGCAACCTCCGCCTCCTGGGCTCAAGTGATTCTCCTGCCTCAGCCTCCCAAGTAGCCTGGATTACAGGCACCCGCCACCACACCCAGCTAATTTTTGTATTTTTAGTAGAGACAGGGTTTCACCATGTTGGCCAGGCTGGTCTTGAACTCCTGATCAAGGCAGGTGATCCACCTGCCTCGGCCTCCCAATGTGCTGGGATTATAAGTGTGAGCCACCGCGCCCAGCCGGCCCCCCCAGCTTTGAGAGGCCCAGCTCTGTATAAGTACCTGTTGAGGGGGTCCTCATTGAGGAGGAGGTGACGCAGCACAGCCATCACACGGGCATCCTCACCCAGCCCATCACGGTCCCGGCCCAGAAGGTCCACAGCTGTGAGCAACAGGACTGCAGGCCGGCAACGGCGGGCCCGGGAGAAGATGGCCTGCAGTTTTGTCTCCACAGCCCCACTACTTTCTGCACAGAGGCTGGAGCAGGGCACCTGGGGAGGGGATCCCAATGGGTCTGTGAGCAAGGGGAAAGCATGACAAGGGCAGGAGAATCAGGGGAGGAGGAGGTGGAAGATGTGGGCCATCTTTTTCTCTGGAGGGCAGGGACAGGGAAGGTACCCTGGCCAAGTCCTACCTCTTTTTTACCCTATCCCATTCCCTGGACTGTCCACCAATATCTTGCAACTCCCTCCTCCTTGAAAGTACCTCTCCATAGCTCAGCATCATGGGAATATGCCTGACCCACTGGGCTGAAGTGCTAGGGCCTGTGAGTAGACAGAGGAGGGAGGGGAGAGGAAGCAGCAGAGAGGGAGAACATGAGCTGGGGAGGGGAAGTAGCTGGGGTTCTACTCTCCAGAGACCCTCACCTTCAGTAAGTGGAGCCCAAGGTGACTACAGGCAGCAGCAACTACTGTGGTCTTCCCACAGCCTGGGGGGCCCCGTAGAAGGACACTGCTAGTTCCTGTCAGCAGGGCACCCCTGCAACCAGAGAACAGACATTCGTCTCCTTCATTTTGCCCAAACATTAGAGTCCCCAGTAACACAAGATCCCTTAGATCTAGAAAGCAGATACCCTGTTTTTCTCTCCTTGAGCCTCCCTGACCCCAGGACAGGGCTGTCCCCATGTAGTGAGGCTGTGTCTCCCACACCACCTGCGGTGCTCTGGCCGGGGCATCCAGCATATCCAACAGCCAAAGACTAATTAATTCCCTTTGGCATTGCTGTGCTGCCAATAAAACCTCAACGTTATGACTGGTCTGAATGGTATTGAGAGACATTGTGGTGGCACTGAGGTGGGGATCTGCGTCCACACCTGGGCCACTGGTATGAGGAGTTGTGTCCTTCAGGGCCAGGGCAGTAAAGTGCAGGATGGCCAGTGAGCTCCCCAAGGGGAAGGGCAGTCTCAGAAACAGATGCCCCTGCTGGAGATTCTTCCTCCAGAGCCAGCCCTGGAGGACAGAGGTTATCCCAGGAAAGGAGCCTGGGAATTGGCTTACAGAAAGGAGTGGCCTGGTGGCCTTGTGTAGGACATACTGGTTTGAGGAAGGTCCTCCCAATCCCACTCTGGCCAGTTCATTAGGAACTACCCATCTGGCTGCTGCTCCTCCAGGGATGTTCTAAGCAGGCTTTTCTCACACCCTGGGGTGATGACCTCACTCACCCTGGCTGGAGGCGAGGCTTCAGGACAGCACAGAGTTCAGACACCAAGGCCTCCAGGCCTGGAGGAGACAAACTGCTCCAGAGAGTGGATTCCTCTGAAGGGAGCCATGGAACAGGGCTCAGGGTAGAACCCACCTGTGAAAGGTAATAAAAAGCTTTCGTTTCTAAAAATCGTTTCTACCCCCTGCGCTGGTCTACACCCATCCTTGGGGCCTCACCATGTACAAGGAGGTATGGGTGGTGTCGGCCAAGTAGGCACTGGCTGGTCCATCTGGAGCTTCCCCAACTGTTTTCTTCACTTTAAAAAACATTTCCCGCCACCTGCAGGAAAAAGGCCCAATGAACCCCAGATCCAGAGTCCAAAAACCCCCCTCCTCAAGGACAAGGTTTCTCAATCACAGAGGACAAACAAAAGCACCACAAGAGCGTGTCCCGAGTCATGGTGGGGAAAAGGAATGCAGATGGACTTTCTCATCTTCCTGACAGACCATACACACCTTGAGGGCAAGAGCTATGCCTGTCCCTCTGCATCCCCCATGACAGCCATGAGAGCTCTGAGGGGGTGTGTTTCTCCAGGCATGTGGCCTACCCACCCACACCAATGGGAGAAGCTGCTGCTGCACTAAGCAGTGGATCATCTGATTACTTCTACTGGCTTCGGTCTCCCCCTCAAATACACAGCCATCCAGGCCCCAAAAACCCTAGGGGGAAGGGTCCCTTGGCTCTTACTCAATAATCCACAAAATCTCATTGCAGGC
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GAGCGTCTCAGGCCCAGGCTCAGTAGCTCAGGGTGCTCCAGGGGGAGCTGAATGGTCTCCAGGATCTCCTTCTTCACCTCCTGCAGCCCACCCACATCATGCCAGGACACTGAGGGGATCTAGGAGATGGAAAGTGCGTGGTTGGGATATGCTCTTGGAGGGGCTCCTGTCCCACCTCCAAGGACTTGGTCTCCACCTTGGGGGCTCCAACGGCCTGGGAGTGAGCTGTCTGCAGTTGCTCCAGTGCCTGCCCAAAGTCCTCAGCCAGGAGAGGAAAGCCGGCAGCACACAGCTCCCCCTCATCCTCCTCAGTCAAGCCACCTGCCAAACTGCAAAGAGGAACACAGGGAAGCCTCCTCACCATCAGCGTCCCATTCCCTTCTCCCTTCCTCACCACCCACCCATCTACATCCATTTCCTCTTTCCGCCTTTCCGGTGCCCACGTCCTCTTACCCTGAGTTCTTGATCCTGGTGCAGGCTGCCCGGCTGCTGTGGGTCAGAAGGGCATAGAGATCCCCTACCACAAAGCCCTAGGGAACCACAGGAAAGGACACATGAGCAGGGCACAGTAGGCAGGAACCTTCAGGGACCGTCCCCCAGCTAGAGCAGAGGCCCTCTGTTGATGCCTTAGGTTTGTTGTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTTTTGCTCTTGTTGCTCAGGCTGGAGTGCAATGGCGCGATCTCGGCTCACCGCAACTTCCACCCGGGTTCAAGCGATTATCTCACCTCAGCCTCCCAAGTAGCTGGGATTACAGGCATGTGCCACCACACCTGGCTAACTTTGTATTTTTAGTAGAGACGGGGTTTCTCCATGTTGGCCAGGCTGGTCTCAAACTCCCAACCTCAGGTGATCCGCCCACCTCGGCCTCCCAAAGTGCTAGGATTACAGGCGTGAGCCACGGCGCCCGCGCTGGGTTTTCTACTCTCACTCACAAGGCAACAGGACTGAGTTCTTGTAACAAAAGCCAGGGACCTCCTAGGGAGGGCCAGTACTCTCCCTTGATACTCACTGCACACCGCCGTGCTAGCTGTGCCAAGTTCACCTCCTGGCCCAGGGGAAGGTGGGCAGTGAGGGCCCGCAGGATGCTGAGCCGCTGCCCCTCTGACAGAGCAGGCACCTCGAGCTCATGAGGAAATGCTGTCTGCACATCAGCAGGCAGGTCCTGGGCCCGGCTTGTGGTGGCCACAACCATGAGGGGAGGGCAGCTGCAGACAGAGGAGTGGGCACTGAGGGTGAGAACATGGCTGGCAGCTCCTGTGGACTGCCTTGTCCCAAAGTCGGCACAGAAGGGCAGGGAAGTGAGGTGGGTGCTAGGATGGGGTAGGGAGATGAGCATCTACCCCAGTTCCTAGATGGGGGAACTGTGTTTCCCCCATCACATTGAGGGCAGAGGCTTTTTCTTTAACCGAGTGTTCCCCAAGAAATGCTAGACCACAGACTCCTCCCTCTGGATCCCTCTAAAGACACGGAGCTCAGGGCTGTCTAGAGGGCAGCCAAATGGATGGGAGATGACTGAGAAGCCACTGAGGGGTGAGAGAAGGGAGGACTGAAAGGCTGAAAAGTAGGAGGGCTGGCCCCCCCGCTCCCCCTTTTTTTTTTTTTTTTAAGACTGAGTCTTGCTCTTGTCGCCCAGGCTGGAGTGCAATGGTATGATTTTGGCTCACTGCAACCTCCGCCTCCTGGGCTCAAGTGATTCTCCTGCCTCAGCCTCCCAAGTAGCCTGGATTACAGGCACCCGCCACCACACCCAGCTAATTTTTGTATTTTTAGTAGAGACAGGGTTTCACCATGTTGGCCAGGCTGGTCTTGAACTCCTGATCAAGGCAGGTGATCCACCTGCCTCGGCCTCCCAATGTGCTGGGATTATAAGTGTGAGCCACCGCGCCCAGCCGGCCCCCCCAGCTTTGAGAGGCCCAGCTCTGTATAAGTACCTGTTGAGGGGGTCCTCATTGAGGAGGAGGTGACGCAGCACAGCCATCACACGGGCATCCTCACCCAGCCCATCACGGTCCCGGCCCGGAAGGTCCACAGCTGTGAGCAACAGGACTGCAGGCCGGCAACGGCGGGCCCGGGAGAAGATGGCCTGCAGTTTTGTCTCCACAGCCCCACTACTTTCTGCACAGAGGCTGGAGCAGGGCACCTGGGGAGGGGATCCCAATGGGTCTGTGAGCAAGGGGAAAGCATGACAAGGGCAGGAGAATCAGGGGAGGAGGAGGTGGAAGATGTGGGCCATCTTTTTCTCTGGAGGGCAGGGACAGGGAAGGTACCCTGGCCAAGTCCTACCTCTTTTTTACCCTATCCCATTCCCTGGACTGTCCACCAATATCTTGCAACTCCCTCCTCCTTGAAAGTACCTCTCCATAGCTCAGCATCATGGGAATATGCCTGACCCACTGGGCTGAAGTGCTAGGGCCTGTGAGTAGACAGAGGAGGGAGGGGAGAGGAAGCAGCAGAGAGGGAGAACATGAGCTGGGGAGGGGAAGTAGCTGGGGTTCTACTCTCCAGAGACCCTCACCTTCAGTAAGTGGAGCCCAAGGTGACTACAGGCAGCAGCAACTACTGTGGTCTTCCCACAGCCTGGGGGGCCCCGTAGAAGGACACTGCTAGTTCCTGTCAGCAGGGCACCCCTGCAACCAGAGAACAGACATTCGTCTCCTTCATTTTGCCCAAACATTAGAGTCCCCAGTAACACAAGATCCCTTAGATCTAGAAAGCAGATACCCTGTTTTTCTCTCCTTGAGCCTCCCTGACCCCAGGACAGGGCTGTCCCCATGTAGTGAGGCTGTGTCTCCCACACCACCTGCGGTGCTCTGGCCGGGGCATCCAGCATATCCAACAGCCAAAGACTAATTAATTCCCTTTGGCATTGCTGTGCTGCCAATAAAACCTCAACGTTATGACTGGTCTGAATGGTATTGAGAGACATTGTGGTGGCACTGAGGTGGGGATCTGCGTCCACACCTGGGCCACTGGTATGAGGAGTTGTGTCCTTCAGGGCCAGGGCAGTAAAGTGCAGGATGGCCAGTGAGCTCCCCAAGGGGAAGGGCAGTCTCAGAAACAGATGCCCCTGCTGGAGATTCTTCCTCCAGAGCCAGCCCTGGAGGACAGAGGTTATCCCAGGAAAGGAGCCTGGGAATTGGCTTACAGAAAGGAGTGGCCTGGTGGCCTTGTGTAGGACATACTGGTTTGAGGAAGGTCCTCCCAATCCCACTCTGGCCAGTTCATTAGGAACTACCCATCTGGCTGCTGCTCCTCCAGGGATGTTCTAAGCAGGCTTTTCTCACACCCTGGGGTGATGACCTCACTCACCCTGGCTGGAGGCGAGGCTTCAGGACAGCACAGAGTTCAGACACCAAGGCCTCCAGGCCTGGAGGAGACAAACTGCTCCAGAGAGTGGATTCCTCTGAAGGGAGCCATGGAACAGGGCTCAGGGTAGAACCCACCTGTGAAAGGTAATAAAAAGCTTTCGTTTCTAAAAATCGTTTCTACCCCCTGCGCTGGTCTACACCCATCCTTGGGGCCTCACCATGTACAAGGAGGTATGGGTGGTGTCGGCCAAGTAGGCACTGGCTGGTCCATCTGGAGCTTCCCCAACTGTTTTCTTCACTTTAAAAAACATTTCCCGCCACCTGCAGGAAAAAGGCCCAATGAACCCCAGATCCAGAGTCCAAAAACCCCCCTCCTCAAGGACAAGGTTTCTCAATCACAGAGGACAAACAAAAGCACCACAAGAGCGTGTCCCGAGTCATGGTGGGGAAAAGGAATGCAGATGGACTTTCTCATCTTCCTGACAGACCATACACACCTTGAGGGCAAGAGCTATGCCTGTCCCTCTGCATCCCCCATGACAGCCATGAGAGCTCTGAGGGGGTGTGTTTCTCCAGGCATGTGGCCTACCCACCCACACCAATGGGAGAAGCTGCTGCTGCACTAAGCAGTGGATCATCTGATTACTTCTACTGGCTTCGGTCTCCCCCTCAAATACACAGCCATCCAGGCCCCAAAAACCCTAGGGGGAAGGGTCCCTTGGCTCTTACTCAATAATCCACAAAATCTCATTGCAGGC
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Task1_train_10340
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An alteration has been detected in PEX6 (peroxisomal biogenesis factor 6) on Chromosome 6. Is it pathogenic, and if so, what disease is involved?
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Pathogenic; Paroxysmal dystonia
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TCTTTACTCAGTAACCCATGGAAATGGAACAACTATTATCTGTTCTACAACTTTCTTCTTGAAGTAAAGGCAGAAACCAAAAACTTTCCTTGGATGTATTTAATAAAATATTAAAACTAAACACCAGGCACCAAAGATAATAAAGACTCCTTTCCTTCAAGGTATTTACAATATATAATTGGGGATTAAACAGATTATGTAATCATAACAAGATAGAATAAAATAAATGCCATAAAAAAGATAGAAAATGCTATAGGAGGAAGTTCTAAATTCGTGGCTGTGAGATCATGAAAGGCTTTGTGATAAAGGTGTCATCTTTAGATGGCTCTTGAGGGAAAGGAGGGTAGGATTTTAACAGATGAGGCTAGAATAATAGGAAACAATTTGAAGTCAAGGATAAGAATGAGCAAAAGCACAGAGACATCATCCTCCATATTATAAAGCACAATACTGAATACATTGTAGCAATTCAATAAACTAATTAGATTGAGTAGATTAACATACACATCTGAAACCTCACTTTTTTTTTTTTTTTTTTTTACACAGAATTTCGCTCTGTCGTCCAGGCTGGAGTGCAGTGGTGTGATCTGGGCTCACTGCAACCTCCACCTCCCAGGTTCAAACAATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGATTACAGGCATGCACCACCACACCCAAACTTCACCTTTCACCTGAATGGATGAAAGCCTTTTGTATGCCCCACTACATTATGGAGGCTTATGATATTTTGATTACAGAATATGGATCAATAGGCCGGGTGAGGTGGCTCACGCCTGTAATCCCAACACTTTGGGTGGATCACCTGAGGTCAGGAGTTCGAGACCAGCCTGACCAATACGGTGAAACCCCGTCTCTACTAAAAATTACAAAAATTAGCCGGGCGTCGTGGCGCGAGCCAGTAGTAGGAGGCTGAGACAGGAGAATCGCTTGAACCTGGGAGGCGGAGGTTGCAGTAAGCCGAGATCGCATCACCACATTCCAGCCTGGGTGACAGAGCAAGACCCCATCTCAAAAAAAAAAAAAAAAAAAAAAAAAGGAAAGAAAGAAAAAGAAAATAGATAAATGAGGCTAAGAAACATTATGCTTTTTTTTTTTTTTTTTTGAGACAGAGTTTCACTCTTATCGCCCAGGCTGGAGTCCAATGGCGCGATCTTGGCTCACCGCAACCTCCGCCTCCCAGGTTCAAGCGATTCTCCTGCTTCAGCCTCCCAAGTAGCTGGGATTAGAGGCATGCACCACCACGCCCGGCTAATTTTACATTTTTTTAGTAGAGACGGGGTTTCTCCATGTTGGTCAGGCTGGTCTCGAACTCCCGACCCCAAGTGATCCGCTCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGTCACCGCGCCCGGCTAGAAACATTATGTTCAAAGTCCGGGATGATATGGGGCACGAGTCCTAAATCTTCCAATTTACCTAAGACAGAGAAGAGGGTATAAGAAAGAGGAAGCACTCCTGACCCCAGTCCTTTATCCTACCTGAATTCTGAGCTCTCCCATTTCCAGGGGGTCACAGCCAAGATTAAAAGCCAAAGTGGCAGGGACAAGCGCCAGTCCGTCAGCGAGGGGCTCTCCCAGCGGTCCAGAGCCGGGTCCCAGTCTATCAGAGAGGTCCCAGCGAGGTTCTAGGACCTGCACCCTAGCCAAGTGCGGCTGTGAAGTGTTCGATGACTCTCTGGCCTGGGCCACCCACACCCATTCGCCCTGGAAGAGGCCAAGGCCACGGAGACAGCTCCGGCTCACCCCTAGTGAATCTCCAGTCCCTCCCAGAACTCCCTGGAGTCGCCGCACTGTGCCAGAAACCGCAAAGGAGGACACCACGGGCGGGGGTGGGGGCCGACTGCTGTCCCCAGACTCTGGACACAGTCTGGCCCGCCCGCGGAGCTCAGTCACAGCCAGCCGAGTCCCTGGGCCCAGCAGCCCTTGCAACGCCGGCCGCGTCTCCAGCACCCGCGGTCCGGGCACTGGGAGGGTCTCTCCGCGCCTCACCAGCAGCGGCCCGACTCGCGGTCCGAGCCCAGGCCCCAGCGAGGTGCCAAGCAGTGCCCAACCTAGCGCCGGGGGCCGCCGCACCGCCCGCGCCCGCACCCAGGCCCCGGAGCCCAGTGCCAGGAGCCGCAGCAGCGCGCGGCTAACCAGTAGCTGCGGCGGCCCGGGACCCTGCTCTTCGGTGCCCGCGTCCGGCCCCTCCAGGGCTGCCACCAGCAGCGCCGGCCCTGCCGGGCTCTCCCCTGCAGGCCTCAGGGCCAGCACCAGGCCCAGCTCCGCCGCCGGCCACGGGCCCCCGGGTGGCAGCAGCACTGCCAACGGGGGTGTCTCGGTCGGAAAGGGCTCCAGGACCCGCAAGACAGCCAGCGCCATGGTGACAGGACACCAACGAGGAGGGTGAAGGAGCGCAGCTTCCGGAGCCAGAGAGCCAGACGACTAGTGTGCGCGAGGGCCGCTTCCGCTTCCGTCAGGGGAGGCCAGAGGAAAAGGGGAGGGGGGTCGGGTGCCGCGAACTTGCTCTGAGGGGGTTAGCTGCGCCTCGGATTGATCTGCGTCGTGCCTCGATAGGCAGTAACCTTCATCGCTGCGGTTGCGTAGCGTTTACCCATGCGCCATTTGAACTTGTGCTTAAGGGATTTATCTTTGCCTTCTACGGAAGTAATGTTCTCTTAACTATTTTTCCCCGTGGCATGAACGTAACAGTTTATTGACTGATAAATGAACAGTCAGCATGCTCGGGATGACTGGGCCCAGTACTGGGAGCTCTAGGTGAAATGTTTCGGAAGGAGTCCGCTCCTCTGCGGAGCTCCTGCAGCTTCCCCTGTGGAACTGTGAGCACTGAGGTTTGAGGGTTGCAGGAAAGGTTGCAGGAGGGAGTAGCAGGATTAGAAAACTGTCTCACACTTGCTTATAGGTATATAGTGGCTGCTGAGTGAATTACTAGATGTGATTCATACAGCCCTGGAGTGCTTGGTGCCACCACACATGTTCCAGCACATCTGGCACAAAACCCATGTTCCAGGACTTCTTGCCCTGTTCATTGTTCTGTTTGTTTTACTCCCACCAAACTTAAGTTGAAGACAAAACAGCTTTTCTTTCACCCCCCCCCCCCAAATCCTTGCAGATCGGAAACCCATTCACTTTCTATCCTAGAGCGGGGCAGGCAGCAGAGCAGGCAGAAGGAAAGGAGTTCAAGGCTTCTGTCAGCATAACACCAACAGTCGACTTCCTGCGTGTGCTGTTATTTAGATTCCATCCTTCTCTTCACCTCCACTGTTCTGTACAAGACACTCAGCTAGTGGTAGGCCACATTTCCTTTTTTATGGCAACAGGGTCCTACTCTGTCACCCAGGTTGGAGTACAGTGGCACGATCCCCATTCATTGCAGCTTCTACCGTCCCAGGCTCAAGTGATCTCCCACCTCAGCCTCCCGAGTAACTGTAGCCGGGACCACAGGCACACGCCACCATACCCAGCCAATTTTTTTTTTGAGACGGAGTTTCGGTCTTGTTGCCCAGGCCAGAGTGCAATGGCACGATCTCAGCTCACTGCAATCTCCGCTTCCCAGGTTCAAAGAATCTCCTGCCCCAGCCTCCCAAGTAGCTGAGATTACAGGTGTGTGCCACCACACCCAGCTAATGTTGTATTTTCAGTAGAGACGGGGTTTCACCCTGTTGGTCAGGCTGGTCTCGAACTCCTGGCTTCAAGTGAGCCACCTGCTTACGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACTGCGCCTGGACTAATTTTTTATTTTTTGTAGAGACAGAGTTTCTCTGTGTTGCCTAGGCTGGTCTCAAACTCCTGGTCTGAAGAGATCCTCAGGCCTCAGCCTCCCAAAGTGCTGGGACTACAGGCATAAGCCATCATGTCCCACTGCATTTCCAATTATTAACAATTATTTTCACTTACAATAAATGAATTGGATGGTGCCAATCTCCATTTTCTAGACCTTACATTCTCTTTCAGCTACTGCTCAGCTTTCTCCATCTCTCCTTTCTTCTTGAGGCAGTCTTCTATTT
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TCTTTACTCAGTAACCCATGGAAATGGAACAACTATTATCTGTTCTACAACTTTCTTCTTGAAGTAAAGGCAGAAACCAAAAACTTTCCTTGGATGTATTTAATAAAATATTAAAACTAAACACCAGGCACCAAAGATAATAAAGACTCCTTTCCTTCAAGGTATTTACAATATATAATTGGGGATTAAACAGATTATGTAATCATAACAAGATAGAATAAAATAAATGCCATAAAAAAGATAGAAAATGCTATAGGAGGAAGTTCTAAATTCGTGGCTGTGAGATCATGAAAGGCTTTGTGATAAAGGTGTCATCTTTAGATGGCTCTTGAGGGAAAGGAGGGTAGGATTTTAACAGATGAGGCTAGAATAATAGGAAACAATTTGAAGTCAAGGATAAGAATGAGCAAAAGCACAGAGACATCATCCTCCATATTATAAAGCACAATACTGAATACATTGTAGCAATTCAATAAACTAATTAGATTGAGTAGATTAACATACACATCTGAAACCTCACTTTTTTTTTTTTTTTTTTTTACACAGAATTTCGCTCTGTCGTCCAGGCTGGAGTGCAGTGGTGTGATCTGGGCTCACTGCAACCTCCACCTCCCAGGTTCAAACAATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGATTACAGGCATGCACCACCACACCCAAACTTCACCTTTCACCTGAATGGATGAAAGCCTTTTGTATGCCCCACTACATTATGGAGGCTTATGATATTTTGATTACAGAATATGGATCAATAGGCCGGGTGAGGTGGCTCACGCCTGTAATCCCAACACTTTGGGTGGATCACCTGAGGTCAGGAGTTCGAGACCAGCCTGACCAATACGGTGAAACCCCGTCTCTACTAAAAATTACAAAAATTAGCCGGGCGTCGTGGCGCGAGCCAGTAGTAGGAGGCTGAGACAGGAGAATCGCTTGAACCTGGGAGGCGGAGGTTGCAGTAAGCCGAGATCGCATCACCACATTCCAGCCTGGGTGACAGAGCAAGACCCCATCTCAAAAAAAAAAAAAAAAAAAAAAAAAGGAAAGAAAGAAAAAGAAAATAGATAAATGAGGCTAAGAAACATTATGCTTTTTTTTTTTTTTTTTTGAGACAGAGTTTCACTCTTATCGCCCAGGCTGGAGTCCAATGGCGCGATCTTGGCTCACCGCAACCTCCGCCTCCCAGGTTCAAGCGATTCTCCTGCTTCAGCCTCCCAAGTAGCTGGGATTAGAGGCATGCACCACCACGCCCGGCTAATTTTACATTTTTTTAGTAGAGACGGGGTTTCTCCATGTTGGTCAGGCTGGTCTCGAACTCCCGACCCCAAGTGATCCGCTCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGTCACCGCGCCCGGCTAGAAACATTATGTTCAAAGTCCGGGATGATATGGGGCACGAGTCCTAAATCTTCCAATTTACCTAAGACAGAGAAGAGGGTATAAGAAAGAGGAAGCACTCCTGACCCCAGTCCTTTATCCTACCTGAATTCTGAGCTCTCCCATTTCCAGGGGGTCACAGCCAAGATTAAAAGCCAAAGTGGCAGGGACAAGCGCCAGTCCGTCAGCGAGGGGCTCTCCCAGCGGTCCAGAGCCGGGTCCCAGTCTATCAGAGAGGTCCCAGCGAGGTTCTAGGACCTGCACCCTAGCCAAGTGCGGCTGTGAAGTGTTCGATGACTCTCTGGCCTGGGCCACCCACACCCATTCGCCCTGGAAGAGGCCAAGGCCACGGAGACAGCTCCGGCTCACCCCTAGTGAATCTCCAGTCCCTCCCAGAACTCCCTGGAGTCGCCGCACTGTGCCAGAAACCGCAAAGGAGGACACCACGGGCGGGGGTGGGGGCCGACTGCTGTCCCCAGACTCTGGACACAGTCTGGCCCGCCCGCGGAGCTCAGTCACAGCCAGCCGAGTCCCTGGGCCCAGCAGCCCTTGCAACGCCGGCCGCGTCTCCAGCACCCGCGGTCCGGGCACTGGGAGGGTCTCTCCGCGCCTCACCGGCAGCGGCCCGACTCGCGGTCCGAGCCCAGGCCCCAGCGAGGTGCCAAGCAGTGCCCAACCTAGCGCCGGGGGCCGCCGCACCGCCCGCGCCCGCACCCAGGCCCCGGAGCCCAGTGCCAGGAGCCGCAGCAGCGCGCGGCTAACCAGTAGCTGCGGCGGCCCGGGACCCTGCTCTTCGGTGCCCGCGTCCGGCCCCTCCAGGGCTGCCACCAGCAGCGCCGGCCCTGCCGGGCTCTCCCCTGCAGGCCTCAGGGCCAGCACCAGGCCCAGCTCCGCCGCCGGCCACGGGCCCCCGGGTGGCAGCAGCACTGCCAACGGGGGTGTCTCGGTCGGAAAGGGCTCCAGGACCCGCAAGACAGCCAGCGCCATGGTGACAGGACACCAACGAGGAGGGTGAAGGAGCGCAGCTTCCGGAGCCAGAGAGCCAGACGACTAGTGTGCGCGAGGGCCGCTTCCGCTTCCGTCAGGGGAGGCCAGAGGAAAAGGGGAGGGGGGTCGGGTGCCGCGAACTTGCTCTGAGGGGGTTAGCTGCGCCTCGGATTGATCTGCGTCGTGCCTCGATAGGCAGTAACCTTCATCGCTGCGGTTGCGTAGCGTTTACCCATGCGCCATTTGAACTTGTGCTTAAGGGATTTATCTTTGCCTTCTACGGAAGTAATGTTCTCTTAACTATTTTTCCCCGTGGCATGAACGTAACAGTTTATTGACTGATAAATGAACAGTCAGCATGCTCGGGATGACTGGGCCCAGTACTGGGAGCTCTAGGTGAAATGTTTCGGAAGGAGTCCGCTCCTCTGCGGAGCTCCTGCAGCTTCCCCTGTGGAACTGTGAGCACTGAGGTTTGAGGGTTGCAGGAAAGGTTGCAGGAGGGAGTAGCAGGATTAGAAAACTGTCTCACACTTGCTTATAGGTATATAGTGGCTGCTGAGTGAATTACTAGATGTGATTCATACAGCCCTGGAGTGCTTGGTGCCACCACACATGTTCCAGCACATCTGGCACAAAACCCATGTTCCAGGACTTCTTGCCCTGTTCATTGTTCTGTTTGTTTTACTCCCACCAAACTTAAGTTGAAGACAAAACAGCTTTTCTTTCACCCCCCCCCCCCAAATCCTTGCAGATCGGAAACCCATTCACTTTCTATCCTAGAGCGGGGCAGGCAGCAGAGCAGGCAGAAGGAAAGGAGTTCAAGGCTTCTGTCAGCATAACACCAACAGTCGACTTCCTGCGTGTGCTGTTATTTAGATTCCATCCTTCTCTTCACCTCCACTGTTCTGTACAAGACACTCAGCTAGTGGTAGGCCACATTTCCTTTTTTATGGCAACAGGGTCCTACTCTGTCACCCAGGTTGGAGTACAGTGGCACGATCCCCATTCATTGCAGCTTCTACCGTCCCAGGCTCAAGTGATCTCCCACCTCAGCCTCCCGAGTAACTGTAGCCGGGACCACAGGCACACGCCACCATACCCAGCCAATTTTTTTTTTGAGACGGAGTTTCGGTCTTGTTGCCCAGGCCAGAGTGCAATGGCACGATCTCAGCTCACTGCAATCTCCGCTTCCCAGGTTCAAAGAATCTCCTGCCCCAGCCTCCCAAGTAGCTGAGATTACAGGTGTGTGCCACCACACCCAGCTAATGTTGTATTTTCAGTAGAGACGGGGTTTCACCCTGTTGGTCAGGCTGGTCTCGAACTCCTGGCTTCAAGTGAGCCACCTGCTTACGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACTGCGCCTGGACTAATTTTTTATTTTTTGTAGAGACAGAGTTTCTCTGTGTTGCCTAGGCTGGTCTCAAACTCCTGGTCTGAAGAGATCCTCAGGCCTCAGCCTCCCAAAGTGCTGGGACTACAGGCATAAGCCATCATGTCCCACTGCATTTCCAATTATTAACAATTATTTTCACTTACAATAAATGAATTGGATGGTGCCAATCTCCATTTTCTAGACCTTACATTCTCTTTCAGCTACTGCTCAGCTTTCTCCATCTCTCCTTTCTTCTTGAGGCAGTCTTCTATTT
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Task1_train_10341
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This sequence change occurs on Chromosome 6, altering PEX6 (peroxisomal biogenesis factor 6). What is the medical significance of this variant — is it benign or linked to a disease?
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Pathogenic; Cognitive impairment
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TCTTTACTCAGTAACCCATGGAAATGGAACAACTATTATCTGTTCTACAACTTTCTTCTTGAAGTAAAGGCAGAAACCAAAAACTTTCCTTGGATGTATTTAATAAAATATTAAAACTAAACACCAGGCACCAAAGATAATAAAGACTCCTTTCCTTCAAGGTATTTACAATATATAATTGGGGATTAAACAGATTATGTAATCATAACAAGATAGAATAAAATAAATGCCATAAAAAAGATAGAAAATGCTATAGGAGGAAGTTCTAAATTCGTGGCTGTGAGATCATGAAAGGCTTTGTGATAAAGGTGTCATCTTTAGATGGCTCTTGAGGGAAAGGAGGGTAGGATTTTAACAGATGAGGCTAGAATAATAGGAAACAATTTGAAGTCAAGGATAAGAATGAGCAAAAGCACAGAGACATCATCCTCCATATTATAAAGCACAATACTGAATACATTGTAGCAATTCAATAAACTAATTAGATTGAGTAGATTAACATACACATCTGAAACCTCACTTTTTTTTTTTTTTTTTTTTACACAGAATTTCGCTCTGTCGTCCAGGCTGGAGTGCAGTGGTGTGATCTGGGCTCACTGCAACCTCCACCTCCCAGGTTCAAACAATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGATTACAGGCATGCACCACCACACCCAAACTTCACCTTTCACCTGAATGGATGAAAGCCTTTTGTATGCCCCACTACATTATGGAGGCTTATGATATTTTGATTACAGAATATGGATCAATAGGCCGGGTGAGGTGGCTCACGCCTGTAATCCCAACACTTTGGGTGGATCACCTGAGGTCAGGAGTTCGAGACCAGCCTGACCAATACGGTGAAACCCCGTCTCTACTAAAAATTACAAAAATTAGCCGGGCGTCGTGGCGCGAGCCAGTAGTAGGAGGCTGAGACAGGAGAATCGCTTGAACCTGGGAGGCGGAGGTTGCAGTAAGCCGAGATCGCATCACCACATTCCAGCCTGGGTGACAGAGCAAGACCCCATCTCAAAAAAAAAAAAAAAAAAAAAAAAAGGAAAGAAAGAAAAAGAAAATAGATAAATGAGGCTAAGAAACATTATGCTTTTTTTTTTTTTTTTTTGAGACAGAGTTTCACTCTTATCGCCCAGGCTGGAGTCCAATGGCGCGATCTTGGCTCACCGCAACCTCCGCCTCCCAGGTTCAAGCGATTCTCCTGCTTCAGCCTCCCAAGTAGCTGGGATTAGAGGCATGCACCACCACGCCCGGCTAATTTTACATTTTTTTAGTAGAGACGGGGTTTCTCCATGTTGGTCAGGCTGGTCTCGAACTCCCGACCCCAAGTGATCCGCTCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGTCACCGCGCCCGGCTAGAAACATTATGTTCAAAGTCCGGGATGATATGGGGCACGAGTCCTAAATCTTCCAATTTACCTAAGACAGAGAAGAGGGTATAAGAAAGAGGAAGCACTCCTGACCCCAGTCCTTTATCCTACCTGAATTCTGAGCTCTCCCATTTCCAGGGGGTCACAGCCAAGATTAAAAGCCAAAGTGGCAGGGACAAGCGCCAGTCCGTCAGCGAGGGGCTCTCCCAGCGGTCCAGAGCCGGGTCCCAGTCTATCAGAGAGGTCCCAGCGAGGTTCTAGGACCTGCACCCTAGCCAAGTGCGGCTGTGAAGTGTTCGATGACTCTCTGGCCTGGGCCACCCACACCCATTCGCCCTGGAAGAGGCCAAGGCCACGGAGACAGCTCCGGCTCACCCCTAGTGAATCTCCAGTCCCTCCCAGAACTCCCTGGAGTCGCCGCACTGTGCCAGAAACCGCAAAGGAGGACACCACGGGCGGGGGTGGGGGCCGACTGCTGTCCCCAGACTCTGGACACAGTCTGGCCCGCCCGCGGAGCTCAGTCACAGCCAGCCGAGTCCCTGGGCCCAGCAGCCCTTGCAACGCCGGCCGCGTCTCCAGCACCCGCGGTCCGGGCACTGGGAGGGTCTCTCCGCGCCTCACCAGCAGCGGCCCGACTCGCGGTCCGAGCCCAGGCCCCAGCGAGGTGCCAAGCAGTGCCCAACCTAGCGCCGGGGGCCGCCGCACCGCCCGCGCCCGCACCCAGGCCCCGGAGCCCAGTGCCAGGAGCCGCAGCAGCGCGCGGCTAACCAGTAGCTGCGGCGGCCCGGGACCCTGCTCTTCGGTGCCCGCGTCCGGCCCCTCCAGGGCTGCCACCAGCAGCGCCGGCCCTGCCGGGCTCTCCCCTGCAGGCCTCAGGGCCAGCACCAGGCCCAGCTCCGCCGCCGGCCACGGGCCCCCGGGTGGCAGCAGCACTGCCAACGGGGGTGTCTCGGTCGGAAAGGGCTCCAGGACCCGCAAGACAGCCAGCGCCATGGTGACAGGACACCAACGAGGAGGGTGAAGGAGCGCAGCTTCCGGAGCCAGAGAGCCAGACGACTAGTGTGCGCGAGGGCCGCTTCCGCTTCCGTCAGGGGAGGCCAGAGGAAAAGGGGAGGGGGGTCGGGTGCCGCGAACTTGCTCTGAGGGGGTTAGCTGCGCCTCGGATTGATCTGCGTCGTGCCTCGATAGGCAGTAACCTTCATCGCTGCGGTTGCGTAGCGTTTACCCATGCGCCATTTGAACTTGTGCTTAAGGGATTTATCTTTGCCTTCTACGGAAGTAATGTTCTCTTAACTATTTTTCCCCGTGGCATGAACGTAACAGTTTATTGACTGATAAATGAACAGTCAGCATGCTCGGGATGACTGGGCCCAGTACTGGGAGCTCTAGGTGAAATGTTTCGGAAGGAGTCCGCTCCTCTGCGGAGCTCCTGCAGCTTCCCCTGTGGAACTGTGAGCACTGAGGTTTGAGGGTTGCAGGAAAGGTTGCAGGAGGGAGTAGCAGGATTAGAAAACTGTCTCACACTTGCTTATAGGTATATAGTGGCTGCTGAGTGAATTACTAGATGTGATTCATACAGCCCTGGAGTGCTTGGTGCCACCACACATGTTCCAGCACATCTGGCACAAAACCCATGTTCCAGGACTTCTTGCCCTGTTCATTGTTCTGTTTGTTTTACTCCCACCAAACTTAAGTTGAAGACAAAACAGCTTTTCTTTCACCCCCCCCCCCCAAATCCTTGCAGATCGGAAACCCATTCACTTTCTATCCTAGAGCGGGGCAGGCAGCAGAGCAGGCAGAAGGAAAGGAGTTCAAGGCTTCTGTCAGCATAACACCAACAGTCGACTTCCTGCGTGTGCTGTTATTTAGATTCCATCCTTCTCTTCACCTCCACTGTTCTGTACAAGACACTCAGCTAGTGGTAGGCCACATTTCCTTTTTTATGGCAACAGGGTCCTACTCTGTCACCCAGGTTGGAGTACAGTGGCACGATCCCCATTCATTGCAGCTTCTACCGTCCCAGGCTCAAGTGATCTCCCACCTCAGCCTCCCGAGTAACTGTAGCCGGGACCACAGGCACACGCCACCATACCCAGCCAATTTTTTTTTTGAGACGGAGTTTCGGTCTTGTTGCCCAGGCCAGAGTGCAATGGCACGATCTCAGCTCACTGCAATCTCCGCTTCCCAGGTTCAAAGAATCTCCTGCCCCAGCCTCCCAAGTAGCTGAGATTACAGGTGTGTGCCACCACACCCAGCTAATGTTGTATTTTCAGTAGAGACGGGGTTTCACCCTGTTGGTCAGGCTGGTCTCGAACTCCTGGCTTCAAGTGAGCCACCTGCTTACGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACTGCGCCTGGACTAATTTTTTATTTTTTGTAGAGACAGAGTTTCTCTGTGTTGCCTAGGCTGGTCTCAAACTCCTGGTCTGAAGAGATCCTCAGGCCTCAGCCTCCCAAAGTGCTGGGACTACAGGCATAAGCCATCATGTCCCACTGCATTTCCAATTATTAACAATTATTTTCACTTACAATAAATGAATTGGATGGTGCCAATCTCCATTTTCTAGACCTTACATTCTCTTTCAGCTACTGCTCAGCTTTCTCCATCTCTCCTTTCTTCTTGAGGCAGTCTTCTATTT
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TCTTTACTCAGTAACCCATGGAAATGGAACAACTATTATCTGTTCTACAACTTTCTTCTTGAAGTAAAGGCAGAAACCAAAAACTTTCCTTGGATGTATTTAATAAAATATTAAAACTAAACACCAGGCACCAAAGATAATAAAGACTCCTTTCCTTCAAGGTATTTACAATATATAATTGGGGATTAAACAGATTATGTAATCATAACAAGATAGAATAAAATAAATGCCATAAAAAAGATAGAAAATGCTATAGGAGGAAGTTCTAAATTCGTGGCTGTGAGATCATGAAAGGCTTTGTGATAAAGGTGTCATCTTTAGATGGCTCTTGAGGGAAAGGAGGGTAGGATTTTAACAGATGAGGCTAGAATAATAGGAAACAATTTGAAGTCAAGGATAAGAATGAGCAAAAGCACAGAGACATCATCCTCCATATTATAAAGCACAATACTGAATACATTGTAGCAATTCAATAAACTAATTAGATTGAGTAGATTAACATACACATCTGAAACCTCACTTTTTTTTTTTTTTTTTTTTACACAGAATTTCGCTCTGTCGTCCAGGCTGGAGTGCAGTGGTGTGATCTGGGCTCACTGCAACCTCCACCTCCCAGGTTCAAACAATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGATTACAGGCATGCACCACCACACCCAAACTTCACCTTTCACCTGAATGGATGAAAGCCTTTTGTATGCCCCACTACATTATGGAGGCTTATGATATTTTGATTACAGAATATGGATCAATAGGCCGGGTGAGGTGGCTCACGCCTGTAATCCCAACACTTTGGGTGGATCACCTGAGGTCAGGAGTTCGAGACCAGCCTGACCAATACGGTGAAACCCCGTCTCTACTAAAAATTACAAAAATTAGCCGGGCGTCGTGGCGCGAGCCAGTAGTAGGAGGCTGAGACAGGAGAATCGCTTGAACCTGGGAGGCGGAGGTTGCAGTAAGCCGAGATCGCATCACCACATTCCAGCCTGGGTGACAGAGCAAGACCCCATCTCAAAAAAAAAAAAAAAAAAAAAAAAAGGAAAGAAAGAAAAAGAAAATAGATAAATGAGGCTAAGAAACATTATGCTTTTTTTTTTTTTTTTTTGAGACAGAGTTTCACTCTTATCGCCCAGGCTGGAGTCCAATGGCGCGATCTTGGCTCACCGCAACCTCCGCCTCCCAGGTTCAAGCGATTCTCCTGCTTCAGCCTCCCAAGTAGCTGGGATTAGAGGCATGCACCACCACGCCCGGCTAATTTTACATTTTTTTAGTAGAGACGGGGTTTCTCCATGTTGGTCAGGCTGGTCTCGAACTCCCGACCCCAAGTGATCCGCTCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGTCACCGCGCCCGGCTAGAAACATTATGTTCAAAGTCCGGGATGATATGGGGCACGAGTCCTAAATCTTCCAATTTACCTAAGACAGAGAAGAGGGTATAAGAAAGAGGAAGCACTCCTGACCCCAGTCCTTTATCCTACCTGAATTCTGAGCTCTCCCATTTCCAGGGGGTCACAGCCAAGATTAAAAGCCAAAGTGGCAGGGACAAGCGCCAGTCCGTCAGCGAGGGGCTCTCCCAGCGGTCCAGAGCCGGGTCCCAGTCTATCAGAGAGGTCCCAGCGAGGTTCTAGGACCTGCACCCTAGCCAAGTGCGGCTGTGAAGTGTTCGATGACTCTCTGGCCTGGGCCACCCACACCCATTCGCCCTGGAAGAGGCCAAGGCCACGGAGACAGCTCCGGCTCACCCCTAGTGAATCTCCAGTCCCTCCCAGAACTCCCTGGAGTCGCCGCACTGTGCCAGAAACCGCAAAGGAGGACACCACGGGCGGGGGTGGGGGCCGACTGCTGTCCCCAGACTCTGGACACAGTCTGGCCCGCCCGCGGAGCTCAGTCACAGCCAGCCGAGTCCCTGGGCCCAGCAGCCCTTGCAACGCCGGCCGCGTCTCCAGCACCCGCGGTCCGGGCACTGGGAGGGTCTCTCCGCGCCTCACCGGCAGCGGCCCGACTCGCGGTCCGAGCCCAGGCCCCAGCGAGGTGCCAAGCAGTGCCCAACCTAGCGCCGGGGGCCGCCGCACCGCCCGCGCCCGCACCCAGGCCCCGGAGCCCAGTGCCAGGAGCCGCAGCAGCGCGCGGCTAACCAGTAGCTGCGGCGGCCCGGGACCCTGCTCTTCGGTGCCCGCGTCCGGCCCCTCCAGGGCTGCCACCAGCAGCGCCGGCCCTGCCGGGCTCTCCCCTGCAGGCCTCAGGGCCAGCACCAGGCCCAGCTCCGCCGCCGGCCACGGGCCCCCGGGTGGCAGCAGCACTGCCAACGGGGGTGTCTCGGTCGGAAAGGGCTCCAGGACCCGCAAGACAGCCAGCGCCATGGTGACAGGACACCAACGAGGAGGGTGAAGGAGCGCAGCTTCCGGAGCCAGAGAGCCAGACGACTAGTGTGCGCGAGGGCCGCTTCCGCTTCCGTCAGGGGAGGCCAGAGGAAAAGGGGAGGGGGGTCGGGTGCCGCGAACTTGCTCTGAGGGGGTTAGCTGCGCCTCGGATTGATCTGCGTCGTGCCTCGATAGGCAGTAACCTTCATCGCTGCGGTTGCGTAGCGTTTACCCATGCGCCATTTGAACTTGTGCTTAAGGGATTTATCTTTGCCTTCTACGGAAGTAATGTTCTCTTAACTATTTTTCCCCGTGGCATGAACGTAACAGTTTATTGACTGATAAATGAACAGTCAGCATGCTCGGGATGACTGGGCCCAGTACTGGGAGCTCTAGGTGAAATGTTTCGGAAGGAGTCCGCTCCTCTGCGGAGCTCCTGCAGCTTCCCCTGTGGAACTGTGAGCACTGAGGTTTGAGGGTTGCAGGAAAGGTTGCAGGAGGGAGTAGCAGGATTAGAAAACTGTCTCACACTTGCTTATAGGTATATAGTGGCTGCTGAGTGAATTACTAGATGTGATTCATACAGCCCTGGAGTGCTTGGTGCCACCACACATGTTCCAGCACATCTGGCACAAAACCCATGTTCCAGGACTTCTTGCCCTGTTCATTGTTCTGTTTGTTTTACTCCCACCAAACTTAAGTTGAAGACAAAACAGCTTTTCTTTCACCCCCCCCCCCCAAATCCTTGCAGATCGGAAACCCATTCACTTTCTATCCTAGAGCGGGGCAGGCAGCAGAGCAGGCAGAAGGAAAGGAGTTCAAGGCTTCTGTCAGCATAACACCAACAGTCGACTTCCTGCGTGTGCTGTTATTTAGATTCCATCCTTCTCTTCACCTCCACTGTTCTGTACAAGACACTCAGCTAGTGGTAGGCCACATTTCCTTTTTTATGGCAACAGGGTCCTACTCTGTCACCCAGGTTGGAGTACAGTGGCACGATCCCCATTCATTGCAGCTTCTACCGTCCCAGGCTCAAGTGATCTCCCACCTCAGCCTCCCGAGTAACTGTAGCCGGGACCACAGGCACACGCCACCATACCCAGCCAATTTTTTTTTTGAGACGGAGTTTCGGTCTTGTTGCCCAGGCCAGAGTGCAATGGCACGATCTCAGCTCACTGCAATCTCCGCTTCCCAGGTTCAAAGAATCTCCTGCCCCAGCCTCCCAAGTAGCTGAGATTACAGGTGTGTGCCACCACACCCAGCTAATGTTGTATTTTCAGTAGAGACGGGGTTTCACCCTGTTGGTCAGGCTGGTCTCGAACTCCTGGCTTCAAGTGAGCCACCTGCTTACGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACTGCGCCTGGACTAATTTTTTATTTTTTGTAGAGACAGAGTTTCTCTGTGTTGCCTAGGCTGGTCTCAAACTCCTGGTCTGAAGAGATCCTCAGGCCTCAGCCTCCCAAAGTGCTGGGACTACAGGCATAAGCCATCATGTCCCACTGCATTTCCAATTATTAACAATTATTTTCACTTACAATAAATGAATTGGATGGTGCCAATCTCCATTTTCTAGACCTTACATTCTCTTTCAGCTACTGCTCAGCTTTCTCCATCTCTCCTTTCTTCTTGAGGCAGTCTTCTATTT
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Task1_train_10342
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Consider a variant on Chromosome 6 in gene PEX6 (peroxisomal biogenesis factor 6). Determine its clinical classification and disease relevance.
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Pathogenic; Peripheral neuropathy
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TCTTTACTCAGTAACCCATGGAAATGGAACAACTATTATCTGTTCTACAACTTTCTTCTTGAAGTAAAGGCAGAAACCAAAAACTTTCCTTGGATGTATTTAATAAAATATTAAAACTAAACACCAGGCACCAAAGATAATAAAGACTCCTTTCCTTCAAGGTATTTACAATATATAATTGGGGATTAAACAGATTATGTAATCATAACAAGATAGAATAAAATAAATGCCATAAAAAAGATAGAAAATGCTATAGGAGGAAGTTCTAAATTCGTGGCTGTGAGATCATGAAAGGCTTTGTGATAAAGGTGTCATCTTTAGATGGCTCTTGAGGGAAAGGAGGGTAGGATTTTAACAGATGAGGCTAGAATAATAGGAAACAATTTGAAGTCAAGGATAAGAATGAGCAAAAGCACAGAGACATCATCCTCCATATTATAAAGCACAATACTGAATACATTGTAGCAATTCAATAAACTAATTAGATTGAGTAGATTAACATACACATCTGAAACCTCACTTTTTTTTTTTTTTTTTTTTACACAGAATTTCGCTCTGTCGTCCAGGCTGGAGTGCAGTGGTGTGATCTGGGCTCACTGCAACCTCCACCTCCCAGGTTCAAACAATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGATTACAGGCATGCACCACCACACCCAAACTTCACCTTTCACCTGAATGGATGAAAGCCTTTTGTATGCCCCACTACATTATGGAGGCTTATGATATTTTGATTACAGAATATGGATCAATAGGCCGGGTGAGGTGGCTCACGCCTGTAATCCCAACACTTTGGGTGGATCACCTGAGGTCAGGAGTTCGAGACCAGCCTGACCAATACGGTGAAACCCCGTCTCTACTAAAAATTACAAAAATTAGCCGGGCGTCGTGGCGCGAGCCAGTAGTAGGAGGCTGAGACAGGAGAATCGCTTGAACCTGGGAGGCGGAGGTTGCAGTAAGCCGAGATCGCATCACCACATTCCAGCCTGGGTGACAGAGCAAGACCCCATCTCAAAAAAAAAAAAAAAAAAAAAAAAAGGAAAGAAAGAAAAAGAAAATAGATAAATGAGGCTAAGAAACATTATGCTTTTTTTTTTTTTTTTTTGAGACAGAGTTTCACTCTTATCGCCCAGGCTGGAGTCCAATGGCGCGATCTTGGCTCACCGCAACCTCCGCCTCCCAGGTTCAAGCGATTCTCCTGCTTCAGCCTCCCAAGTAGCTGGGATTAGAGGCATGCACCACCACGCCCGGCTAATTTTACATTTTTTTAGTAGAGACGGGGTTTCTCCATGTTGGTCAGGCTGGTCTCGAACTCCCGACCCCAAGTGATCCGCTCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGTCACCGCGCCCGGCTAGAAACATTATGTTCAAAGTCCGGGATGATATGGGGCACGAGTCCTAAATCTTCCAATTTACCTAAGACAGAGAAGAGGGTATAAGAAAGAGGAAGCACTCCTGACCCCAGTCCTTTATCCTACCTGAATTCTGAGCTCTCCCATTTCCAGGGGGTCACAGCCAAGATTAAAAGCCAAAGTGGCAGGGACAAGCGCCAGTCCGTCAGCGAGGGGCTCTCCCAGCGGTCCAGAGCCGGGTCCCAGTCTATCAGAGAGGTCCCAGCGAGGTTCTAGGACCTGCACCCTAGCCAAGTGCGGCTGTGAAGTGTTCGATGACTCTCTGGCCTGGGCCACCCACACCCATTCGCCCTGGAAGAGGCCAAGGCCACGGAGACAGCTCCGGCTCACCCCTAGTGAATCTCCAGTCCCTCCCAGAACTCCCTGGAGTCGCCGCACTGTGCCAGAAACCGCAAAGGAGGACACCACGGGCGGGGGTGGGGGCCGACTGCTGTCCCCAGACTCTGGACACAGTCTGGCCCGCCCGCGGAGCTCAGTCACAGCCAGCCGAGTCCCTGGGCCCAGCAGCCCTTGCAACGCCGGCCGCGTCTCCAGCACCCGCGGTCCGGGCACTGGGAGGGTCTCTCCGCGCCTCACCAGCAGCGGCCCGACTCGCGGTCCGAGCCCAGGCCCCAGCGAGGTGCCAAGCAGTGCCCAACCTAGCGCCGGGGGCCGCCGCACCGCCCGCGCCCGCACCCAGGCCCCGGAGCCCAGTGCCAGGAGCCGCAGCAGCGCGCGGCTAACCAGTAGCTGCGGCGGCCCGGGACCCTGCTCTTCGGTGCCCGCGTCCGGCCCCTCCAGGGCTGCCACCAGCAGCGCCGGCCCTGCCGGGCTCTCCCCTGCAGGCCTCAGGGCCAGCACCAGGCCCAGCTCCGCCGCCGGCCACGGGCCCCCGGGTGGCAGCAGCACTGCCAACGGGGGTGTCTCGGTCGGAAAGGGCTCCAGGACCCGCAAGACAGCCAGCGCCATGGTGACAGGACACCAACGAGGAGGGTGAAGGAGCGCAGCTTCCGGAGCCAGAGAGCCAGACGACTAGTGTGCGCGAGGGCCGCTTCCGCTTCCGTCAGGGGAGGCCAGAGGAAAAGGGGAGGGGGGTCGGGTGCCGCGAACTTGCTCTGAGGGGGTTAGCTGCGCCTCGGATTGATCTGCGTCGTGCCTCGATAGGCAGTAACCTTCATCGCTGCGGTTGCGTAGCGTTTACCCATGCGCCATTTGAACTTGTGCTTAAGGGATTTATCTTTGCCTTCTACGGAAGTAATGTTCTCTTAACTATTTTTCCCCGTGGCATGAACGTAACAGTTTATTGACTGATAAATGAACAGTCAGCATGCTCGGGATGACTGGGCCCAGTACTGGGAGCTCTAGGTGAAATGTTTCGGAAGGAGTCCGCTCCTCTGCGGAGCTCCTGCAGCTTCCCCTGTGGAACTGTGAGCACTGAGGTTTGAGGGTTGCAGGAAAGGTTGCAGGAGGGAGTAGCAGGATTAGAAAACTGTCTCACACTTGCTTATAGGTATATAGTGGCTGCTGAGTGAATTACTAGATGTGATTCATACAGCCCTGGAGTGCTTGGTGCCACCACACATGTTCCAGCACATCTGGCACAAAACCCATGTTCCAGGACTTCTTGCCCTGTTCATTGTTCTGTTTGTTTTACTCCCACCAAACTTAAGTTGAAGACAAAACAGCTTTTCTTTCACCCCCCCCCCCCAAATCCTTGCAGATCGGAAACCCATTCACTTTCTATCCTAGAGCGGGGCAGGCAGCAGAGCAGGCAGAAGGAAAGGAGTTCAAGGCTTCTGTCAGCATAACACCAACAGTCGACTTCCTGCGTGTGCTGTTATTTAGATTCCATCCTTCTCTTCACCTCCACTGTTCTGTACAAGACACTCAGCTAGTGGTAGGCCACATTTCCTTTTTTATGGCAACAGGGTCCTACTCTGTCACCCAGGTTGGAGTACAGTGGCACGATCCCCATTCATTGCAGCTTCTACCGTCCCAGGCTCAAGTGATCTCCCACCTCAGCCTCCCGAGTAACTGTAGCCGGGACCACAGGCACACGCCACCATACCCAGCCAATTTTTTTTTTGAGACGGAGTTTCGGTCTTGTTGCCCAGGCCAGAGTGCAATGGCACGATCTCAGCTCACTGCAATCTCCGCTTCCCAGGTTCAAAGAATCTCCTGCCCCAGCCTCCCAAGTAGCTGAGATTACAGGTGTGTGCCACCACACCCAGCTAATGTTGTATTTTCAGTAGAGACGGGGTTTCACCCTGTTGGTCAGGCTGGTCTCGAACTCCTGGCTTCAAGTGAGCCACCTGCTTACGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACTGCGCCTGGACTAATTTTTTATTTTTTGTAGAGACAGAGTTTCTCTGTGTTGCCTAGGCTGGTCTCAAACTCCTGGTCTGAAGAGATCCTCAGGCCTCAGCCTCCCAAAGTGCTGGGACTACAGGCATAAGCCATCATGTCCCACTGCATTTCCAATTATTAACAATTATTTTCACTTACAATAAATGAATTGGATGGTGCCAATCTCCATTTTCTAGACCTTACATTCTCTTTCAGCTACTGCTCAGCTTTCTCCATCTCTCCTTTCTTCTTGAGGCAGTCTTCTATTT
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TCTTTACTCAGTAACCCATGGAAATGGAACAACTATTATCTGTTCTACAACTTTCTTCTTGAAGTAAAGGCAGAAACCAAAAACTTTCCTTGGATGTATTTAATAAAATATTAAAACTAAACACCAGGCACCAAAGATAATAAAGACTCCTTTCCTTCAAGGTATTTACAATATATAATTGGGGATTAAACAGATTATGTAATCATAACAAGATAGAATAAAATAAATGCCATAAAAAAGATAGAAAATGCTATAGGAGGAAGTTCTAAATTCGTGGCTGTGAGATCATGAAAGGCTTTGTGATAAAGGTGTCATCTTTAGATGGCTCTTGAGGGAAAGGAGGGTAGGATTTTAACAGATGAGGCTAGAATAATAGGAAACAATTTGAAGTCAAGGATAAGAATGAGCAAAAGCACAGAGACATCATCCTCCATATTATAAAGCACAATACTGAATACATTGTAGCAATTCAATAAACTAATTAGATTGAGTAGATTAACATACACATCTGAAACCTCACTTTTTTTTTTTTTTTTTTTTACACAGAATTTCGCTCTGTCGTCCAGGCTGGAGTGCAGTGGTGTGATCTGGGCTCACTGCAACCTCCACCTCCCAGGTTCAAACAATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGATTACAGGCATGCACCACCACACCCAAACTTCACCTTTCACCTGAATGGATGAAAGCCTTTTGTATGCCCCACTACATTATGGAGGCTTATGATATTTTGATTACAGAATATGGATCAATAGGCCGGGTGAGGTGGCTCACGCCTGTAATCCCAACACTTTGGGTGGATCACCTGAGGTCAGGAGTTCGAGACCAGCCTGACCAATACGGTGAAACCCCGTCTCTACTAAAAATTACAAAAATTAGCCGGGCGTCGTGGCGCGAGCCAGTAGTAGGAGGCTGAGACAGGAGAATCGCTTGAACCTGGGAGGCGGAGGTTGCAGTAAGCCGAGATCGCATCACCACATTCCAGCCTGGGTGACAGAGCAAGACCCCATCTCAAAAAAAAAAAAAAAAAAAAAAAAAGGAAAGAAAGAAAAAGAAAATAGATAAATGAGGCTAAGAAACATTATGCTTTTTTTTTTTTTTTTTTGAGACAGAGTTTCACTCTTATCGCCCAGGCTGGAGTCCAATGGCGCGATCTTGGCTCACCGCAACCTCCGCCTCCCAGGTTCAAGCGATTCTCCTGCTTCAGCCTCCCAAGTAGCTGGGATTAGAGGCATGCACCACCACGCCCGGCTAATTTTACATTTTTTTAGTAGAGACGGGGTTTCTCCATGTTGGTCAGGCTGGTCTCGAACTCCCGACCCCAAGTGATCCGCTCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGTCACCGCGCCCGGCTAGAAACATTATGTTCAAAGTCCGGGATGATATGGGGCACGAGTCCTAAATCTTCCAATTTACCTAAGACAGAGAAGAGGGTATAAGAAAGAGGAAGCACTCCTGACCCCAGTCCTTTATCCTACCTGAATTCTGAGCTCTCCCATTTCCAGGGGGTCACAGCCAAGATTAAAAGCCAAAGTGGCAGGGACAAGCGCCAGTCCGTCAGCGAGGGGCTCTCCCAGCGGTCCAGAGCCGGGTCCCAGTCTATCAGAGAGGTCCCAGCGAGGTTCTAGGACCTGCACCCTAGCCAAGTGCGGCTGTGAAGTGTTCGATGACTCTCTGGCCTGGGCCACCCACACCCATTCGCCCTGGAAGAGGCCAAGGCCACGGAGACAGCTCCGGCTCACCCCTAGTGAATCTCCAGTCCCTCCCAGAACTCCCTGGAGTCGCCGCACTGTGCCAGAAACCGCAAAGGAGGACACCACGGGCGGGGGTGGGGGCCGACTGCTGTCCCCAGACTCTGGACACAGTCTGGCCCGCCCGCGGAGCTCAGTCACAGCCAGCCGAGTCCCTGGGCCCAGCAGCCCTTGCAACGCCGGCCGCGTCTCCAGCACCCGCGGTCCGGGCACTGGGAGGGTCTCTCCGCGCCTCACCGGCAGCGGCCCGACTCGCGGTCCGAGCCCAGGCCCCAGCGAGGTGCCAAGCAGTGCCCAACCTAGCGCCGGGGGCCGCCGCACCGCCCGCGCCCGCACCCAGGCCCCGGAGCCCAGTGCCAGGAGCCGCAGCAGCGCGCGGCTAACCAGTAGCTGCGGCGGCCCGGGACCCTGCTCTTCGGTGCCCGCGTCCGGCCCCTCCAGGGCTGCCACCAGCAGCGCCGGCCCTGCCGGGCTCTCCCCTGCAGGCCTCAGGGCCAGCACCAGGCCCAGCTCCGCCGCCGGCCACGGGCCCCCGGGTGGCAGCAGCACTGCCAACGGGGGTGTCTCGGTCGGAAAGGGCTCCAGGACCCGCAAGACAGCCAGCGCCATGGTGACAGGACACCAACGAGGAGGGTGAAGGAGCGCAGCTTCCGGAGCCAGAGAGCCAGACGACTAGTGTGCGCGAGGGCCGCTTCCGCTTCCGTCAGGGGAGGCCAGAGGAAAAGGGGAGGGGGGTCGGGTGCCGCGAACTTGCTCTGAGGGGGTTAGCTGCGCCTCGGATTGATCTGCGTCGTGCCTCGATAGGCAGTAACCTTCATCGCTGCGGTTGCGTAGCGTTTACCCATGCGCCATTTGAACTTGTGCTTAAGGGATTTATCTTTGCCTTCTACGGAAGTAATGTTCTCTTAACTATTTTTCCCCGTGGCATGAACGTAACAGTTTATTGACTGATAAATGAACAGTCAGCATGCTCGGGATGACTGGGCCCAGTACTGGGAGCTCTAGGTGAAATGTTTCGGAAGGAGTCCGCTCCTCTGCGGAGCTCCTGCAGCTTCCCCTGTGGAACTGTGAGCACTGAGGTTTGAGGGTTGCAGGAAAGGTTGCAGGAGGGAGTAGCAGGATTAGAAAACTGTCTCACACTTGCTTATAGGTATATAGTGGCTGCTGAGTGAATTACTAGATGTGATTCATACAGCCCTGGAGTGCTTGGTGCCACCACACATGTTCCAGCACATCTGGCACAAAACCCATGTTCCAGGACTTCTTGCCCTGTTCATTGTTCTGTTTGTTTTACTCCCACCAAACTTAAGTTGAAGACAAAACAGCTTTTCTTTCACCCCCCCCCCCCAAATCCTTGCAGATCGGAAACCCATTCACTTTCTATCCTAGAGCGGGGCAGGCAGCAGAGCAGGCAGAAGGAAAGGAGTTCAAGGCTTCTGTCAGCATAACACCAACAGTCGACTTCCTGCGTGTGCTGTTATTTAGATTCCATCCTTCTCTTCACCTCCACTGTTCTGTACAAGACACTCAGCTAGTGGTAGGCCACATTTCCTTTTTTATGGCAACAGGGTCCTACTCTGTCACCCAGGTTGGAGTACAGTGGCACGATCCCCATTCATTGCAGCTTCTACCGTCCCAGGCTCAAGTGATCTCCCACCTCAGCCTCCCGAGTAACTGTAGCCGGGACCACAGGCACACGCCACCATACCCAGCCAATTTTTTTTTTGAGACGGAGTTTCGGTCTTGTTGCCCAGGCCAGAGTGCAATGGCACGATCTCAGCTCACTGCAATCTCCGCTTCCCAGGTTCAAAGAATCTCCTGCCCCAGCCTCCCAAGTAGCTGAGATTACAGGTGTGTGCCACCACACCCAGCTAATGTTGTATTTTCAGTAGAGACGGGGTTTCACCCTGTTGGTCAGGCTGGTCTCGAACTCCTGGCTTCAAGTGAGCCACCTGCTTACGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACTGCGCCTGGACTAATTTTTTATTTTTTGTAGAGACAGAGTTTCTCTGTGTTGCCTAGGCTGGTCTCAAACTCCTGGTCTGAAGAGATCCTCAGGCCTCAGCCTCCCAAAGTGCTGGGACTACAGGCATAAGCCATCATGTCCCACTGCATTTCCAATTATTAACAATTATTTTCACTTACAATAAATGAATTGGATGGTGCCAATCTCCATTTTCTAGACCTTACATTCTCTTTCAGCTACTGCTCAGCTTTCTCCATCTCTCCTTTCTTCTTGAGGCAGTCTTCTATTT
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Task1_train_10343
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A variant was discovered in gene PEX6 (peroxisomal biogenesis factor 6), Chromosome 6. Please indicate if this mutation results in a known disease or if it's non-harmful.
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Pathogenic; Cerebellar ataxia
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TCTTTACTCAGTAACCCATGGAAATGGAACAACTATTATCTGTTCTACAACTTTCTTCTTGAAGTAAAGGCAGAAACCAAAAACTTTCCTTGGATGTATTTAATAAAATATTAAAACTAAACACCAGGCACCAAAGATAATAAAGACTCCTTTCCTTCAAGGTATTTACAATATATAATTGGGGATTAAACAGATTATGTAATCATAACAAGATAGAATAAAATAAATGCCATAAAAAAGATAGAAAATGCTATAGGAGGAAGTTCTAAATTCGTGGCTGTGAGATCATGAAAGGCTTTGTGATAAAGGTGTCATCTTTAGATGGCTCTTGAGGGAAAGGAGGGTAGGATTTTAACAGATGAGGCTAGAATAATAGGAAACAATTTGAAGTCAAGGATAAGAATGAGCAAAAGCACAGAGACATCATCCTCCATATTATAAAGCACAATACTGAATACATTGTAGCAATTCAATAAACTAATTAGATTGAGTAGATTAACATACACATCTGAAACCTCACTTTTTTTTTTTTTTTTTTTTACACAGAATTTCGCTCTGTCGTCCAGGCTGGAGTGCAGTGGTGTGATCTGGGCTCACTGCAACCTCCACCTCCCAGGTTCAAACAATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGATTACAGGCATGCACCACCACACCCAAACTTCACCTTTCACCTGAATGGATGAAAGCCTTTTGTATGCCCCACTACATTATGGAGGCTTATGATATTTTGATTACAGAATATGGATCAATAGGCCGGGTGAGGTGGCTCACGCCTGTAATCCCAACACTTTGGGTGGATCACCTGAGGTCAGGAGTTCGAGACCAGCCTGACCAATACGGTGAAACCCCGTCTCTACTAAAAATTACAAAAATTAGCCGGGCGTCGTGGCGCGAGCCAGTAGTAGGAGGCTGAGACAGGAGAATCGCTTGAACCTGGGAGGCGGAGGTTGCAGTAAGCCGAGATCGCATCACCACATTCCAGCCTGGGTGACAGAGCAAGACCCCATCTCAAAAAAAAAAAAAAAAAAAAAAAAAGGAAAGAAAGAAAAAGAAAATAGATAAATGAGGCTAAGAAACATTATGCTTTTTTTTTTTTTTTTTTGAGACAGAGTTTCACTCTTATCGCCCAGGCTGGAGTCCAATGGCGCGATCTTGGCTCACCGCAACCTCCGCCTCCCAGGTTCAAGCGATTCTCCTGCTTCAGCCTCCCAAGTAGCTGGGATTAGAGGCATGCACCACCACGCCCGGCTAATTTTACATTTTTTTAGTAGAGACGGGGTTTCTCCATGTTGGTCAGGCTGGTCTCGAACTCCCGACCCCAAGTGATCCGCTCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGTCACCGCGCCCGGCTAGAAACATTATGTTCAAAGTCCGGGATGATATGGGGCACGAGTCCTAAATCTTCCAATTTACCTAAGACAGAGAAGAGGGTATAAGAAAGAGGAAGCACTCCTGACCCCAGTCCTTTATCCTACCTGAATTCTGAGCTCTCCCATTTCCAGGGGGTCACAGCCAAGATTAAAAGCCAAAGTGGCAGGGACAAGCGCCAGTCCGTCAGCGAGGGGCTCTCCCAGCGGTCCAGAGCCGGGTCCCAGTCTATCAGAGAGGTCCCAGCGAGGTTCTAGGACCTGCACCCTAGCCAAGTGCGGCTGTGAAGTGTTCGATGACTCTCTGGCCTGGGCCACCCACACCCATTCGCCCTGGAAGAGGCCAAGGCCACGGAGACAGCTCCGGCTCACCCCTAGTGAATCTCCAGTCCCTCCCAGAACTCCCTGGAGTCGCCGCACTGTGCCAGAAACCGCAAAGGAGGACACCACGGGCGGGGGTGGGGGCCGACTGCTGTCCCCAGACTCTGGACACAGTCTGGCCCGCCCGCGGAGCTCAGTCACAGCCAGCCGAGTCCCTGGGCCCAGCAGCCCTTGCAACGCCGGCCGCGTCTCCAGCACCCGCGGTCCGGGCACTGGGAGGGTCTCTCCGCGCCTCACCAGCAGCGGCCCGACTCGCGGTCCGAGCCCAGGCCCCAGCGAGGTGCCAAGCAGTGCCCAACCTAGCGCCGGGGGCCGCCGCACCGCCCGCGCCCGCACCCAGGCCCCGGAGCCCAGTGCCAGGAGCCGCAGCAGCGCGCGGCTAACCAGTAGCTGCGGCGGCCCGGGACCCTGCTCTTCGGTGCCCGCGTCCGGCCCCTCCAGGGCTGCCACCAGCAGCGCCGGCCCTGCCGGGCTCTCCCCTGCAGGCCTCAGGGCCAGCACCAGGCCCAGCTCCGCCGCCGGCCACGGGCCCCCGGGTGGCAGCAGCACTGCCAACGGGGGTGTCTCGGTCGGAAAGGGCTCCAGGACCCGCAAGACAGCCAGCGCCATGGTGACAGGACACCAACGAGGAGGGTGAAGGAGCGCAGCTTCCGGAGCCAGAGAGCCAGACGACTAGTGTGCGCGAGGGCCGCTTCCGCTTCCGTCAGGGGAGGCCAGAGGAAAAGGGGAGGGGGGTCGGGTGCCGCGAACTTGCTCTGAGGGGGTTAGCTGCGCCTCGGATTGATCTGCGTCGTGCCTCGATAGGCAGTAACCTTCATCGCTGCGGTTGCGTAGCGTTTACCCATGCGCCATTTGAACTTGTGCTTAAGGGATTTATCTTTGCCTTCTACGGAAGTAATGTTCTCTTAACTATTTTTCCCCGTGGCATGAACGTAACAGTTTATTGACTGATAAATGAACAGTCAGCATGCTCGGGATGACTGGGCCCAGTACTGGGAGCTCTAGGTGAAATGTTTCGGAAGGAGTCCGCTCCTCTGCGGAGCTCCTGCAGCTTCCCCTGTGGAACTGTGAGCACTGAGGTTTGAGGGTTGCAGGAAAGGTTGCAGGAGGGAGTAGCAGGATTAGAAAACTGTCTCACACTTGCTTATAGGTATATAGTGGCTGCTGAGTGAATTACTAGATGTGATTCATACAGCCCTGGAGTGCTTGGTGCCACCACACATGTTCCAGCACATCTGGCACAAAACCCATGTTCCAGGACTTCTTGCCCTGTTCATTGTTCTGTTTGTTTTACTCCCACCAAACTTAAGTTGAAGACAAAACAGCTTTTCTTTCACCCCCCCCCCCCAAATCCTTGCAGATCGGAAACCCATTCACTTTCTATCCTAGAGCGGGGCAGGCAGCAGAGCAGGCAGAAGGAAAGGAGTTCAAGGCTTCTGTCAGCATAACACCAACAGTCGACTTCCTGCGTGTGCTGTTATTTAGATTCCATCCTTCTCTTCACCTCCACTGTTCTGTACAAGACACTCAGCTAGTGGTAGGCCACATTTCCTTTTTTATGGCAACAGGGTCCTACTCTGTCACCCAGGTTGGAGTACAGTGGCACGATCCCCATTCATTGCAGCTTCTACCGTCCCAGGCTCAAGTGATCTCCCACCTCAGCCTCCCGAGTAACTGTAGCCGGGACCACAGGCACACGCCACCATACCCAGCCAATTTTTTTTTTGAGACGGAGTTTCGGTCTTGTTGCCCAGGCCAGAGTGCAATGGCACGATCTCAGCTCACTGCAATCTCCGCTTCCCAGGTTCAAAGAATCTCCTGCCCCAGCCTCCCAAGTAGCTGAGATTACAGGTGTGTGCCACCACACCCAGCTAATGTTGTATTTTCAGTAGAGACGGGGTTTCACCCTGTTGGTCAGGCTGGTCTCGAACTCCTGGCTTCAAGTGAGCCACCTGCTTACGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACTGCGCCTGGACTAATTTTTTATTTTTTGTAGAGACAGAGTTTCTCTGTGTTGCCTAGGCTGGTCTCAAACTCCTGGTCTGAAGAGATCCTCAGGCCTCAGCCTCCCAAAGTGCTGGGACTACAGGCATAAGCCATCATGTCCCACTGCATTTCCAATTATTAACAATTATTTTCACTTACAATAAATGAATTGGATGGTGCCAATCTCCATTTTCTAGACCTTACATTCTCTTTCAGCTACTGCTCAGCTTTCTCCATCTCTCCTTTCTTCTTGAGGCAGTCTTCTATTT
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TCTTTACTCAGTAACCCATGGAAATGGAACAACTATTATCTGTTCTACAACTTTCTTCTTGAAGTAAAGGCAGAAACCAAAAACTTTCCTTGGATGTATTTAATAAAATATTAAAACTAAACACCAGGCACCAAAGATAATAAAGACTCCTTTCCTTCAAGGTATTTACAATATATAATTGGGGATTAAACAGATTATGTAATCATAACAAGATAGAATAAAATAAATGCCATAAAAAAGATAGAAAATGCTATAGGAGGAAGTTCTAAATTCGTGGCTGTGAGATCATGAAAGGCTTTGTGATAAAGGTGTCATCTTTAGATGGCTCTTGAGGGAAAGGAGGGTAGGATTTTAACAGATGAGGCTAGAATAATAGGAAACAATTTGAAGTCAAGGATAAGAATGAGCAAAAGCACAGAGACATCATCCTCCATATTATAAAGCACAATACTGAATACATTGTAGCAATTCAATAAACTAATTAGATTGAGTAGATTAACATACACATCTGAAACCTCACTTTTTTTTTTTTTTTTTTTTACACAGAATTTCGCTCTGTCGTCCAGGCTGGAGTGCAGTGGTGTGATCTGGGCTCACTGCAACCTCCACCTCCCAGGTTCAAACAATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGATTACAGGCATGCACCACCACACCCAAACTTCACCTTTCACCTGAATGGATGAAAGCCTTTTGTATGCCCCACTACATTATGGAGGCTTATGATATTTTGATTACAGAATATGGATCAATAGGCCGGGTGAGGTGGCTCACGCCTGTAATCCCAACACTTTGGGTGGATCACCTGAGGTCAGGAGTTCGAGACCAGCCTGACCAATACGGTGAAACCCCGTCTCTACTAAAAATTACAAAAATTAGCCGGGCGTCGTGGCGCGAGCCAGTAGTAGGAGGCTGAGACAGGAGAATCGCTTGAACCTGGGAGGCGGAGGTTGCAGTAAGCCGAGATCGCATCACCACATTCCAGCCTGGGTGACAGAGCAAGACCCCATCTCAAAAAAAAAAAAAAAAAAAAAAAAAGGAAAGAAAGAAAAAGAAAATAGATAAATGAGGCTAAGAAACATTATGCTTTTTTTTTTTTTTTTTTGAGACAGAGTTTCACTCTTATCGCCCAGGCTGGAGTCCAATGGCGCGATCTTGGCTCACCGCAACCTCCGCCTCCCAGGTTCAAGCGATTCTCCTGCTTCAGCCTCCCAAGTAGCTGGGATTAGAGGCATGCACCACCACGCCCGGCTAATTTTACATTTTTTTAGTAGAGACGGGGTTTCTCCATGTTGGTCAGGCTGGTCTCGAACTCCCGACCCCAAGTGATCCGCTCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGTCACCGCGCCCGGCTAGAAACATTATGTTCAAAGTCCGGGATGATATGGGGCACGAGTCCTAAATCTTCCAATTTACCTAAGACAGAGAAGAGGGTATAAGAAAGAGGAAGCACTCCTGACCCCAGTCCTTTATCCTACCTGAATTCTGAGCTCTCCCATTTCCAGGGGGTCACAGCCAAGATTAAAAGCCAAAGTGGCAGGGACAAGCGCCAGTCCGTCAGCGAGGGGCTCTCCCAGCGGTCCAGAGCCGGGTCCCAGTCTATCAGAGAGGTCCCAGCGAGGTTCTAGGACCTGCACCCTAGCCAAGTGCGGCTGTGAAGTGTTCGATGACTCTCTGGCCTGGGCCACCCACACCCATTCGCCCTGGAAGAGGCCAAGGCCACGGAGACAGCTCCGGCTCACCCCTAGTGAATCTCCAGTCCCTCCCAGAACTCCCTGGAGTCGCCGCACTGTGCCAGAAACCGCAAAGGAGGACACCACGGGCGGGGGTGGGGGCCGACTGCTGTCCCCAGACTCTGGACACAGTCTGGCCCGCCCGCGGAGCTCAGTCACAGCCAGCCGAGTCCCTGGGCCCAGCAGCCCTTGCAACGCCGGCCGCGTCTCCAGCACCCGCGGTCCGGGCACTGGGAGGGTCTCTCCGCGCCTCACCGGCAGCGGCCCGACTCGCGGTCCGAGCCCAGGCCCCAGCGAGGTGCCAAGCAGTGCCCAACCTAGCGCCGGGGGCCGCCGCACCGCCCGCGCCCGCACCCAGGCCCCGGAGCCCAGTGCCAGGAGCCGCAGCAGCGCGCGGCTAACCAGTAGCTGCGGCGGCCCGGGACCCTGCTCTTCGGTGCCCGCGTCCGGCCCCTCCAGGGCTGCCACCAGCAGCGCCGGCCCTGCCGGGCTCTCCCCTGCAGGCCTCAGGGCCAGCACCAGGCCCAGCTCCGCCGCCGGCCACGGGCCCCCGGGTGGCAGCAGCACTGCCAACGGGGGTGTCTCGGTCGGAAAGGGCTCCAGGACCCGCAAGACAGCCAGCGCCATGGTGACAGGACACCAACGAGGAGGGTGAAGGAGCGCAGCTTCCGGAGCCAGAGAGCCAGACGACTAGTGTGCGCGAGGGCCGCTTCCGCTTCCGTCAGGGGAGGCCAGAGGAAAAGGGGAGGGGGGTCGGGTGCCGCGAACTTGCTCTGAGGGGGTTAGCTGCGCCTCGGATTGATCTGCGTCGTGCCTCGATAGGCAGTAACCTTCATCGCTGCGGTTGCGTAGCGTTTACCCATGCGCCATTTGAACTTGTGCTTAAGGGATTTATCTTTGCCTTCTACGGAAGTAATGTTCTCTTAACTATTTTTCCCCGTGGCATGAACGTAACAGTTTATTGACTGATAAATGAACAGTCAGCATGCTCGGGATGACTGGGCCCAGTACTGGGAGCTCTAGGTGAAATGTTTCGGAAGGAGTCCGCTCCTCTGCGGAGCTCCTGCAGCTTCCCCTGTGGAACTGTGAGCACTGAGGTTTGAGGGTTGCAGGAAAGGTTGCAGGAGGGAGTAGCAGGATTAGAAAACTGTCTCACACTTGCTTATAGGTATATAGTGGCTGCTGAGTGAATTACTAGATGTGATTCATACAGCCCTGGAGTGCTTGGTGCCACCACACATGTTCCAGCACATCTGGCACAAAACCCATGTTCCAGGACTTCTTGCCCTGTTCATTGTTCTGTTTGTTTTACTCCCACCAAACTTAAGTTGAAGACAAAACAGCTTTTCTTTCACCCCCCCCCCCCAAATCCTTGCAGATCGGAAACCCATTCACTTTCTATCCTAGAGCGGGGCAGGCAGCAGAGCAGGCAGAAGGAAAGGAGTTCAAGGCTTCTGTCAGCATAACACCAACAGTCGACTTCCTGCGTGTGCTGTTATTTAGATTCCATCCTTCTCTTCACCTCCACTGTTCTGTACAAGACACTCAGCTAGTGGTAGGCCACATTTCCTTTTTTATGGCAACAGGGTCCTACTCTGTCACCCAGGTTGGAGTACAGTGGCACGATCCCCATTCATTGCAGCTTCTACCGTCCCAGGCTCAAGTGATCTCCCACCTCAGCCTCCCGAGTAACTGTAGCCGGGACCACAGGCACACGCCACCATACCCAGCCAATTTTTTTTTTGAGACGGAGTTTCGGTCTTGTTGCCCAGGCCAGAGTGCAATGGCACGATCTCAGCTCACTGCAATCTCCGCTTCCCAGGTTCAAAGAATCTCCTGCCCCAGCCTCCCAAGTAGCTGAGATTACAGGTGTGTGCCACCACACCCAGCTAATGTTGTATTTTCAGTAGAGACGGGGTTTCACCCTGTTGGTCAGGCTGGTCTCGAACTCCTGGCTTCAAGTGAGCCACCTGCTTACGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACTGCGCCTGGACTAATTTTTTATTTTTTGTAGAGACAGAGTTTCTCTGTGTTGCCTAGGCTGGTCTCAAACTCCTGGTCTGAAGAGATCCTCAGGCCTCAGCCTCCCAAAGTGCTGGGACTACAGGCATAAGCCATCATGTCCCACTGCATTTCCAATTATTAACAATTATTTTCACTTACAATAAATGAATTGGATGGTGCCAATCTCCATTTTCTAGACCTTACATTCTCTTTCAGCTACTGCTCAGCTTTCTCCATCTCTCCTTTCTTCTTGAGGCAGTCTTCTATTT
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Task1_train_10344
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A variant found in Chromosome 6 affects PEX6 (peroxisomal biogenesis factor 6). Please analyze its biological impact: is it benign or pathogenic, and what condition might it cause?
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Pathogenic; Premature ovarian insufficiency
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TCTTTACTCAGTAACCCATGGAAATGGAACAACTATTATCTGTTCTACAACTTTCTTCTTGAAGTAAAGGCAGAAACCAAAAACTTTCCTTGGATGTATTTAATAAAATATTAAAACTAAACACCAGGCACCAAAGATAATAAAGACTCCTTTCCTTCAAGGTATTTACAATATATAATTGGGGATTAAACAGATTATGTAATCATAACAAGATAGAATAAAATAAATGCCATAAAAAAGATAGAAAATGCTATAGGAGGAAGTTCTAAATTCGTGGCTGTGAGATCATGAAAGGCTTTGTGATAAAGGTGTCATCTTTAGATGGCTCTTGAGGGAAAGGAGGGTAGGATTTTAACAGATGAGGCTAGAATAATAGGAAACAATTTGAAGTCAAGGATAAGAATGAGCAAAAGCACAGAGACATCATCCTCCATATTATAAAGCACAATACTGAATACATTGTAGCAATTCAATAAACTAATTAGATTGAGTAGATTAACATACACATCTGAAACCTCACTTTTTTTTTTTTTTTTTTTTACACAGAATTTCGCTCTGTCGTCCAGGCTGGAGTGCAGTGGTGTGATCTGGGCTCACTGCAACCTCCACCTCCCAGGTTCAAACAATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGATTACAGGCATGCACCACCACACCCAAACTTCACCTTTCACCTGAATGGATGAAAGCCTTTTGTATGCCCCACTACATTATGGAGGCTTATGATATTTTGATTACAGAATATGGATCAATAGGCCGGGTGAGGTGGCTCACGCCTGTAATCCCAACACTTTGGGTGGATCACCTGAGGTCAGGAGTTCGAGACCAGCCTGACCAATACGGTGAAACCCCGTCTCTACTAAAAATTACAAAAATTAGCCGGGCGTCGTGGCGCGAGCCAGTAGTAGGAGGCTGAGACAGGAGAATCGCTTGAACCTGGGAGGCGGAGGTTGCAGTAAGCCGAGATCGCATCACCACATTCCAGCCTGGGTGACAGAGCAAGACCCCATCTCAAAAAAAAAAAAAAAAAAAAAAAAAGGAAAGAAAGAAAAAGAAAATAGATAAATGAGGCTAAGAAACATTATGCTTTTTTTTTTTTTTTTTTGAGACAGAGTTTCACTCTTATCGCCCAGGCTGGAGTCCAATGGCGCGATCTTGGCTCACCGCAACCTCCGCCTCCCAGGTTCAAGCGATTCTCCTGCTTCAGCCTCCCAAGTAGCTGGGATTAGAGGCATGCACCACCACGCCCGGCTAATTTTACATTTTTTTAGTAGAGACGGGGTTTCTCCATGTTGGTCAGGCTGGTCTCGAACTCCCGACCCCAAGTGATCCGCTCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGTCACCGCGCCCGGCTAGAAACATTATGTTCAAAGTCCGGGATGATATGGGGCACGAGTCCTAAATCTTCCAATTTACCTAAGACAGAGAAGAGGGTATAAGAAAGAGGAAGCACTCCTGACCCCAGTCCTTTATCCTACCTGAATTCTGAGCTCTCCCATTTCCAGGGGGTCACAGCCAAGATTAAAAGCCAAAGTGGCAGGGACAAGCGCCAGTCCGTCAGCGAGGGGCTCTCCCAGCGGTCCAGAGCCGGGTCCCAGTCTATCAGAGAGGTCCCAGCGAGGTTCTAGGACCTGCACCCTAGCCAAGTGCGGCTGTGAAGTGTTCGATGACTCTCTGGCCTGGGCCACCCACACCCATTCGCCCTGGAAGAGGCCAAGGCCACGGAGACAGCTCCGGCTCACCCCTAGTGAATCTCCAGTCCCTCCCAGAACTCCCTGGAGTCGCCGCACTGTGCCAGAAACCGCAAAGGAGGACACCACGGGCGGGGGTGGGGGCCGACTGCTGTCCCCAGACTCTGGACACAGTCTGGCCCGCCCGCGGAGCTCAGTCACAGCCAGCCGAGTCCCTGGGCCCAGCAGCCCTTGCAACGCCGGCCGCGTCTCCAGCACCCGCGGTCCGGGCACTGGGAGGGTCTCTCCGCGCCTCACCAGCAGCGGCCCGACTCGCGGTCCGAGCCCAGGCCCCAGCGAGGTGCCAAGCAGTGCCCAACCTAGCGCCGGGGGCCGCCGCACCGCCCGCGCCCGCACCCAGGCCCCGGAGCCCAGTGCCAGGAGCCGCAGCAGCGCGCGGCTAACCAGTAGCTGCGGCGGCCCGGGACCCTGCTCTTCGGTGCCCGCGTCCGGCCCCTCCAGGGCTGCCACCAGCAGCGCCGGCCCTGCCGGGCTCTCCCCTGCAGGCCTCAGGGCCAGCACCAGGCCCAGCTCCGCCGCCGGCCACGGGCCCCCGGGTGGCAGCAGCACTGCCAACGGGGGTGTCTCGGTCGGAAAGGGCTCCAGGACCCGCAAGACAGCCAGCGCCATGGTGACAGGACACCAACGAGGAGGGTGAAGGAGCGCAGCTTCCGGAGCCAGAGAGCCAGACGACTAGTGTGCGCGAGGGCCGCTTCCGCTTCCGTCAGGGGAGGCCAGAGGAAAAGGGGAGGGGGGTCGGGTGCCGCGAACTTGCTCTGAGGGGGTTAGCTGCGCCTCGGATTGATCTGCGTCGTGCCTCGATAGGCAGTAACCTTCATCGCTGCGGTTGCGTAGCGTTTACCCATGCGCCATTTGAACTTGTGCTTAAGGGATTTATCTTTGCCTTCTACGGAAGTAATGTTCTCTTAACTATTTTTCCCCGTGGCATGAACGTAACAGTTTATTGACTGATAAATGAACAGTCAGCATGCTCGGGATGACTGGGCCCAGTACTGGGAGCTCTAGGTGAAATGTTTCGGAAGGAGTCCGCTCCTCTGCGGAGCTCCTGCAGCTTCCCCTGTGGAACTGTGAGCACTGAGGTTTGAGGGTTGCAGGAAAGGTTGCAGGAGGGAGTAGCAGGATTAGAAAACTGTCTCACACTTGCTTATAGGTATATAGTGGCTGCTGAGTGAATTACTAGATGTGATTCATACAGCCCTGGAGTGCTTGGTGCCACCACACATGTTCCAGCACATCTGGCACAAAACCCATGTTCCAGGACTTCTTGCCCTGTTCATTGTTCTGTTTGTTTTACTCCCACCAAACTTAAGTTGAAGACAAAACAGCTTTTCTTTCACCCCCCCCCCCCAAATCCTTGCAGATCGGAAACCCATTCACTTTCTATCCTAGAGCGGGGCAGGCAGCAGAGCAGGCAGAAGGAAAGGAGTTCAAGGCTTCTGTCAGCATAACACCAACAGTCGACTTCCTGCGTGTGCTGTTATTTAGATTCCATCCTTCTCTTCACCTCCACTGTTCTGTACAAGACACTCAGCTAGTGGTAGGCCACATTTCCTTTTTTATGGCAACAGGGTCCTACTCTGTCACCCAGGTTGGAGTACAGTGGCACGATCCCCATTCATTGCAGCTTCTACCGTCCCAGGCTCAAGTGATCTCCCACCTCAGCCTCCCGAGTAACTGTAGCCGGGACCACAGGCACACGCCACCATACCCAGCCAATTTTTTTTTTGAGACGGAGTTTCGGTCTTGTTGCCCAGGCCAGAGTGCAATGGCACGATCTCAGCTCACTGCAATCTCCGCTTCCCAGGTTCAAAGAATCTCCTGCCCCAGCCTCCCAAGTAGCTGAGATTACAGGTGTGTGCCACCACACCCAGCTAATGTTGTATTTTCAGTAGAGACGGGGTTTCACCCTGTTGGTCAGGCTGGTCTCGAACTCCTGGCTTCAAGTGAGCCACCTGCTTACGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACTGCGCCTGGACTAATTTTTTATTTTTTGTAGAGACAGAGTTTCTCTGTGTTGCCTAGGCTGGTCTCAAACTCCTGGTCTGAAGAGATCCTCAGGCCTCAGCCTCCCAAAGTGCTGGGACTACAGGCATAAGCCATCATGTCCCACTGCATTTCCAATTATTAACAATTATTTTCACTTACAATAAATGAATTGGATGGTGCCAATCTCCATTTTCTAGACCTTACATTCTCTTTCAGCTACTGCTCAGCTTTCTCCATCTCTCCTTTCTTCTTGAGGCAGTCTTCTATTT
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TCTTTACTCAGTAACCCATGGAAATGGAACAACTATTATCTGTTCTACAACTTTCTTCTTGAAGTAAAGGCAGAAACCAAAAACTTTCCTTGGATGTATTTAATAAAATATTAAAACTAAACACCAGGCACCAAAGATAATAAAGACTCCTTTCCTTCAAGGTATTTACAATATATAATTGGGGATTAAACAGATTATGTAATCATAACAAGATAGAATAAAATAAATGCCATAAAAAAGATAGAAAATGCTATAGGAGGAAGTTCTAAATTCGTGGCTGTGAGATCATGAAAGGCTTTGTGATAAAGGTGTCATCTTTAGATGGCTCTTGAGGGAAAGGAGGGTAGGATTTTAACAGATGAGGCTAGAATAATAGGAAACAATTTGAAGTCAAGGATAAGAATGAGCAAAAGCACAGAGACATCATCCTCCATATTATAAAGCACAATACTGAATACATTGTAGCAATTCAATAAACTAATTAGATTGAGTAGATTAACATACACATCTGAAACCTCACTTTTTTTTTTTTTTTTTTTTACACAGAATTTCGCTCTGTCGTCCAGGCTGGAGTGCAGTGGTGTGATCTGGGCTCACTGCAACCTCCACCTCCCAGGTTCAAACAATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGATTACAGGCATGCACCACCACACCCAAACTTCACCTTTCACCTGAATGGATGAAAGCCTTTTGTATGCCCCACTACATTATGGAGGCTTATGATATTTTGATTACAGAATATGGATCAATAGGCCGGGTGAGGTGGCTCACGCCTGTAATCCCAACACTTTGGGTGGATCACCTGAGGTCAGGAGTTCGAGACCAGCCTGACCAATACGGTGAAACCCCGTCTCTACTAAAAATTACAAAAATTAGCCGGGCGTCGTGGCGCGAGCCAGTAGTAGGAGGCTGAGACAGGAGAATCGCTTGAACCTGGGAGGCGGAGGTTGCAGTAAGCCGAGATCGCATCACCACATTCCAGCCTGGGTGACAGAGCAAGACCCCATCTCAAAAAAAAAAAAAAAAAAAAAAAAAGGAAAGAAAGAAAAAGAAAATAGATAAATGAGGCTAAGAAACATTATGCTTTTTTTTTTTTTTTTTTGAGACAGAGTTTCACTCTTATCGCCCAGGCTGGAGTCCAATGGCGCGATCTTGGCTCACCGCAACCTCCGCCTCCCAGGTTCAAGCGATTCTCCTGCTTCAGCCTCCCAAGTAGCTGGGATTAGAGGCATGCACCACCACGCCCGGCTAATTTTACATTTTTTTAGTAGAGACGGGGTTTCTCCATGTTGGTCAGGCTGGTCTCGAACTCCCGACCCCAAGTGATCCGCTCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGTCACCGCGCCCGGCTAGAAACATTATGTTCAAAGTCCGGGATGATATGGGGCACGAGTCCTAAATCTTCCAATTTACCTAAGACAGAGAAGAGGGTATAAGAAAGAGGAAGCACTCCTGACCCCAGTCCTTTATCCTACCTGAATTCTGAGCTCTCCCATTTCCAGGGGGTCACAGCCAAGATTAAAAGCCAAAGTGGCAGGGACAAGCGCCAGTCCGTCAGCGAGGGGCTCTCCCAGCGGTCCAGAGCCGGGTCCCAGTCTATCAGAGAGGTCCCAGCGAGGTTCTAGGACCTGCACCCTAGCCAAGTGCGGCTGTGAAGTGTTCGATGACTCTCTGGCCTGGGCCACCCACACCCATTCGCCCTGGAAGAGGCCAAGGCCACGGAGACAGCTCCGGCTCACCCCTAGTGAATCTCCAGTCCCTCCCAGAACTCCCTGGAGTCGCCGCACTGTGCCAGAAACCGCAAAGGAGGACACCACGGGCGGGGGTGGGGGCCGACTGCTGTCCCCAGACTCTGGACACAGTCTGGCCCGCCCGCGGAGCTCAGTCACAGCCAGCCGAGTCCCTGGGCCCAGCAGCCCTTGCAACGCCGGCCGCGTCTCCAGCACCCGCGGTCCGGGCACTGGGAGGGTCTCTCCGCGCCTCACCGGCAGCGGCCCGACTCGCGGTCCGAGCCCAGGCCCCAGCGAGGTGCCAAGCAGTGCCCAACCTAGCGCCGGGGGCCGCCGCACCGCCCGCGCCCGCACCCAGGCCCCGGAGCCCAGTGCCAGGAGCCGCAGCAGCGCGCGGCTAACCAGTAGCTGCGGCGGCCCGGGACCCTGCTCTTCGGTGCCCGCGTCCGGCCCCTCCAGGGCTGCCACCAGCAGCGCCGGCCCTGCCGGGCTCTCCCCTGCAGGCCTCAGGGCCAGCACCAGGCCCAGCTCCGCCGCCGGCCACGGGCCCCCGGGTGGCAGCAGCACTGCCAACGGGGGTGTCTCGGTCGGAAAGGGCTCCAGGACCCGCAAGACAGCCAGCGCCATGGTGACAGGACACCAACGAGGAGGGTGAAGGAGCGCAGCTTCCGGAGCCAGAGAGCCAGACGACTAGTGTGCGCGAGGGCCGCTTCCGCTTCCGTCAGGGGAGGCCAGAGGAAAAGGGGAGGGGGGTCGGGTGCCGCGAACTTGCTCTGAGGGGGTTAGCTGCGCCTCGGATTGATCTGCGTCGTGCCTCGATAGGCAGTAACCTTCATCGCTGCGGTTGCGTAGCGTTTACCCATGCGCCATTTGAACTTGTGCTTAAGGGATTTATCTTTGCCTTCTACGGAAGTAATGTTCTCTTAACTATTTTTCCCCGTGGCATGAACGTAACAGTTTATTGACTGATAAATGAACAGTCAGCATGCTCGGGATGACTGGGCCCAGTACTGGGAGCTCTAGGTGAAATGTTTCGGAAGGAGTCCGCTCCTCTGCGGAGCTCCTGCAGCTTCCCCTGTGGAACTGTGAGCACTGAGGTTTGAGGGTTGCAGGAAAGGTTGCAGGAGGGAGTAGCAGGATTAGAAAACTGTCTCACACTTGCTTATAGGTATATAGTGGCTGCTGAGTGAATTACTAGATGTGATTCATACAGCCCTGGAGTGCTTGGTGCCACCACACATGTTCCAGCACATCTGGCACAAAACCCATGTTCCAGGACTTCTTGCCCTGTTCATTGTTCTGTTTGTTTTACTCCCACCAAACTTAAGTTGAAGACAAAACAGCTTTTCTTTCACCCCCCCCCCCCAAATCCTTGCAGATCGGAAACCCATTCACTTTCTATCCTAGAGCGGGGCAGGCAGCAGAGCAGGCAGAAGGAAAGGAGTTCAAGGCTTCTGTCAGCATAACACCAACAGTCGACTTCCTGCGTGTGCTGTTATTTAGATTCCATCCTTCTCTTCACCTCCACTGTTCTGTACAAGACACTCAGCTAGTGGTAGGCCACATTTCCTTTTTTATGGCAACAGGGTCCTACTCTGTCACCCAGGTTGGAGTACAGTGGCACGATCCCCATTCATTGCAGCTTCTACCGTCCCAGGCTCAAGTGATCTCCCACCTCAGCCTCCCGAGTAACTGTAGCCGGGACCACAGGCACACGCCACCATACCCAGCCAATTTTTTTTTTGAGACGGAGTTTCGGTCTTGTTGCCCAGGCCAGAGTGCAATGGCACGATCTCAGCTCACTGCAATCTCCGCTTCCCAGGTTCAAAGAATCTCCTGCCCCAGCCTCCCAAGTAGCTGAGATTACAGGTGTGTGCCACCACACCCAGCTAATGTTGTATTTTCAGTAGAGACGGGGTTTCACCCTGTTGGTCAGGCTGGTCTCGAACTCCTGGCTTCAAGTGAGCCACCTGCTTACGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACTGCGCCTGGACTAATTTTTTATTTTTTGTAGAGACAGAGTTTCTCTGTGTTGCCTAGGCTGGTCTCAAACTCCTGGTCTGAAGAGATCCTCAGGCCTCAGCCTCCCAAAGTGCTGGGACTACAGGCATAAGCCATCATGTCCCACTGCATTTCCAATTATTAACAATTATTTTCACTTACAATAAATGAATTGGATGGTGCCAATCTCCATTTTCTAGACCTTACATTCTCTTTCAGCTACTGCTCAGCTTTCTCCATCTCTCCTTTCTTCTTGAGGCAGTCTTCTATTT
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Task1_train_10345
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This mutation is located in gene PEX6 (peroxisomal biogenesis factor 6) on Chromosome 6. Is it associated with a disease or is it a benign polymorphism?
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Pathogenic; Sensorineural hearing loss disorder
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TCTTTACTCAGTAACCCATGGAAATGGAACAACTATTATCTGTTCTACAACTTTCTTCTTGAAGTAAAGGCAGAAACCAAAAACTTTCCTTGGATGTATTTAATAAAATATTAAAACTAAACACCAGGCACCAAAGATAATAAAGACTCCTTTCCTTCAAGGTATTTACAATATATAATTGGGGATTAAACAGATTATGTAATCATAACAAGATAGAATAAAATAAATGCCATAAAAAAGATAGAAAATGCTATAGGAGGAAGTTCTAAATTCGTGGCTGTGAGATCATGAAAGGCTTTGTGATAAAGGTGTCATCTTTAGATGGCTCTTGAGGGAAAGGAGGGTAGGATTTTAACAGATGAGGCTAGAATAATAGGAAACAATTTGAAGTCAAGGATAAGAATGAGCAAAAGCACAGAGACATCATCCTCCATATTATAAAGCACAATACTGAATACATTGTAGCAATTCAATAAACTAATTAGATTGAGTAGATTAACATACACATCTGAAACCTCACTTTTTTTTTTTTTTTTTTTTACACAGAATTTCGCTCTGTCGTCCAGGCTGGAGTGCAGTGGTGTGATCTGGGCTCACTGCAACCTCCACCTCCCAGGTTCAAACAATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGATTACAGGCATGCACCACCACACCCAAACTTCACCTTTCACCTGAATGGATGAAAGCCTTTTGTATGCCCCACTACATTATGGAGGCTTATGATATTTTGATTACAGAATATGGATCAATAGGCCGGGTGAGGTGGCTCACGCCTGTAATCCCAACACTTTGGGTGGATCACCTGAGGTCAGGAGTTCGAGACCAGCCTGACCAATACGGTGAAACCCCGTCTCTACTAAAAATTACAAAAATTAGCCGGGCGTCGTGGCGCGAGCCAGTAGTAGGAGGCTGAGACAGGAGAATCGCTTGAACCTGGGAGGCGGAGGTTGCAGTAAGCCGAGATCGCATCACCACATTCCAGCCTGGGTGACAGAGCAAGACCCCATCTCAAAAAAAAAAAAAAAAAAAAAAAAAGGAAAGAAAGAAAAAGAAAATAGATAAATGAGGCTAAGAAACATTATGCTTTTTTTTTTTTTTTTTTGAGACAGAGTTTCACTCTTATCGCCCAGGCTGGAGTCCAATGGCGCGATCTTGGCTCACCGCAACCTCCGCCTCCCAGGTTCAAGCGATTCTCCTGCTTCAGCCTCCCAAGTAGCTGGGATTAGAGGCATGCACCACCACGCCCGGCTAATTTTACATTTTTTTAGTAGAGACGGGGTTTCTCCATGTTGGTCAGGCTGGTCTCGAACTCCCGACCCCAAGTGATCCGCTCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGTCACCGCGCCCGGCTAGAAACATTATGTTCAAAGTCCGGGATGATATGGGGCACGAGTCCTAAATCTTCCAATTTACCTAAGACAGAGAAGAGGGTATAAGAAAGAGGAAGCACTCCTGACCCCAGTCCTTTATCCTACCTGAATTCTGAGCTCTCCCATTTCCAGGGGGTCACAGCCAAGATTAAAAGCCAAAGTGGCAGGGACAAGCGCCAGTCCGTCAGCGAGGGGCTCTCCCAGCGGTCCAGAGCCGGGTCCCAGTCTATCAGAGAGGTCCCAGCGAGGTTCTAGGACCTGCACCCTAGCCAAGTGCGGCTGTGAAGTGTTCGATGACTCTCTGGCCTGGGCCACCCACACCCATTCGCCCTGGAAGAGGCCAAGGCCACGGAGACAGCTCCGGCTCACCCCTAGTGAATCTCCAGTCCCTCCCAGAACTCCCTGGAGTCGCCGCACTGTGCCAGAAACCGCAAAGGAGGACACCACGGGCGGGGGTGGGGGCCGACTGCTGTCCCCAGACTCTGGACACAGTCTGGCCCGCCCGCGGAGCTCAGTCACAGCCAGCCGAGTCCCTGGGCCCAGCAGCCCTTGCAACGCCGGCCGCGTCTCCAGCACCCGCGGTCCGGGCACTGGGAGGGTCTCTCCGCGCCTCACCAGCAGCGGCCCGACTCGCGGTCCGAGCCCAGGCCCCAGCGAGGTGCCAAGCAGTGCCCAACCTAGCGCCGGGGGCCGCCGCACCGCCCGCGCCCGCACCCAGGCCCCGGAGCCCAGTGCCAGGAGCCGCAGCAGCGCGCGGCTAACCAGTAGCTGCGGCGGCCCGGGACCCTGCTCTTCGGTGCCCGCGTCCGGCCCCTCCAGGGCTGCCACCAGCAGCGCCGGCCCTGCCGGGCTCTCCCCTGCAGGCCTCAGGGCCAGCACCAGGCCCAGCTCCGCCGCCGGCCACGGGCCCCCGGGTGGCAGCAGCACTGCCAACGGGGGTGTCTCGGTCGGAAAGGGCTCCAGGACCCGCAAGACAGCCAGCGCCATGGTGACAGGACACCAACGAGGAGGGTGAAGGAGCGCAGCTTCCGGAGCCAGAGAGCCAGACGACTAGTGTGCGCGAGGGCCGCTTCCGCTTCCGTCAGGGGAGGCCAGAGGAAAAGGGGAGGGGGGTCGGGTGCCGCGAACTTGCTCTGAGGGGGTTAGCTGCGCCTCGGATTGATCTGCGTCGTGCCTCGATAGGCAGTAACCTTCATCGCTGCGGTTGCGTAGCGTTTACCCATGCGCCATTTGAACTTGTGCTTAAGGGATTTATCTTTGCCTTCTACGGAAGTAATGTTCTCTTAACTATTTTTCCCCGTGGCATGAACGTAACAGTTTATTGACTGATAAATGAACAGTCAGCATGCTCGGGATGACTGGGCCCAGTACTGGGAGCTCTAGGTGAAATGTTTCGGAAGGAGTCCGCTCCTCTGCGGAGCTCCTGCAGCTTCCCCTGTGGAACTGTGAGCACTGAGGTTTGAGGGTTGCAGGAAAGGTTGCAGGAGGGAGTAGCAGGATTAGAAAACTGTCTCACACTTGCTTATAGGTATATAGTGGCTGCTGAGTGAATTACTAGATGTGATTCATACAGCCCTGGAGTGCTTGGTGCCACCACACATGTTCCAGCACATCTGGCACAAAACCCATGTTCCAGGACTTCTTGCCCTGTTCATTGTTCTGTTTGTTTTACTCCCACCAAACTTAAGTTGAAGACAAAACAGCTTTTCTTTCACCCCCCCCCCCCAAATCCTTGCAGATCGGAAACCCATTCACTTTCTATCCTAGAGCGGGGCAGGCAGCAGAGCAGGCAGAAGGAAAGGAGTTCAAGGCTTCTGTCAGCATAACACCAACAGTCGACTTCCTGCGTGTGCTGTTATTTAGATTCCATCCTTCTCTTCACCTCCACTGTTCTGTACAAGACACTCAGCTAGTGGTAGGCCACATTTCCTTTTTTATGGCAACAGGGTCCTACTCTGTCACCCAGGTTGGAGTACAGTGGCACGATCCCCATTCATTGCAGCTTCTACCGTCCCAGGCTCAAGTGATCTCCCACCTCAGCCTCCCGAGTAACTGTAGCCGGGACCACAGGCACACGCCACCATACCCAGCCAATTTTTTTTTTGAGACGGAGTTTCGGTCTTGTTGCCCAGGCCAGAGTGCAATGGCACGATCTCAGCTCACTGCAATCTCCGCTTCCCAGGTTCAAAGAATCTCCTGCCCCAGCCTCCCAAGTAGCTGAGATTACAGGTGTGTGCCACCACACCCAGCTAATGTTGTATTTTCAGTAGAGACGGGGTTTCACCCTGTTGGTCAGGCTGGTCTCGAACTCCTGGCTTCAAGTGAGCCACCTGCTTACGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACTGCGCCTGGACTAATTTTTTATTTTTTGTAGAGACAGAGTTTCTCTGTGTTGCCTAGGCTGGTCTCAAACTCCTGGTCTGAAGAGATCCTCAGGCCTCAGCCTCCCAAAGTGCTGGGACTACAGGCATAAGCCATCATGTCCCACTGCATTTCCAATTATTAACAATTATTTTCACTTACAATAAATGAATTGGATGGTGCCAATCTCCATTTTCTAGACCTTACATTCTCTTTCAGCTACTGCTCAGCTTTCTCCATCTCTCCTTTCTTCTTGAGGCAGTCTTCTATTT
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TCTTTACTCAGTAACCCATGGAAATGGAACAACTATTATCTGTTCTACAACTTTCTTCTTGAAGTAAAGGCAGAAACCAAAAACTTTCCTTGGATGTATTTAATAAAATATTAAAACTAAACACCAGGCACCAAAGATAATAAAGACTCCTTTCCTTCAAGGTATTTACAATATATAATTGGGGATTAAACAGATTATGTAATCATAACAAGATAGAATAAAATAAATGCCATAAAAAAGATAGAAAATGCTATAGGAGGAAGTTCTAAATTCGTGGCTGTGAGATCATGAAAGGCTTTGTGATAAAGGTGTCATCTTTAGATGGCTCTTGAGGGAAAGGAGGGTAGGATTTTAACAGATGAGGCTAGAATAATAGGAAACAATTTGAAGTCAAGGATAAGAATGAGCAAAAGCACAGAGACATCATCCTCCATATTATAAAGCACAATACTGAATACATTGTAGCAATTCAATAAACTAATTAGATTGAGTAGATTAACATACACATCTGAAACCTCACTTTTTTTTTTTTTTTTTTTTACACAGAATTTCGCTCTGTCGTCCAGGCTGGAGTGCAGTGGTGTGATCTGGGCTCACTGCAACCTCCACCTCCCAGGTTCAAACAATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGATTACAGGCATGCACCACCACACCCAAACTTCACCTTTCACCTGAATGGATGAAAGCCTTTTGTATGCCCCACTACATTATGGAGGCTTATGATATTTTGATTACAGAATATGGATCAATAGGCCGGGTGAGGTGGCTCACGCCTGTAATCCCAACACTTTGGGTGGATCACCTGAGGTCAGGAGTTCGAGACCAGCCTGACCAATACGGTGAAACCCCGTCTCTACTAAAAATTACAAAAATTAGCCGGGCGTCGTGGCGCGAGCCAGTAGTAGGAGGCTGAGACAGGAGAATCGCTTGAACCTGGGAGGCGGAGGTTGCAGTAAGCCGAGATCGCATCACCACATTCCAGCCTGGGTGACAGAGCAAGACCCCATCTCAAAAAAAAAAAAAAAAAAAAAAAAAGGAAAGAAAGAAAAAGAAAATAGATAAATGAGGCTAAGAAACATTATGCTTTTTTTTTTTTTTTTTTGAGACAGAGTTTCACTCTTATCGCCCAGGCTGGAGTCCAATGGCGCGATCTTGGCTCACCGCAACCTCCGCCTCCCAGGTTCAAGCGATTCTCCTGCTTCAGCCTCCCAAGTAGCTGGGATTAGAGGCATGCACCACCACGCCCGGCTAATTTTACATTTTTTTAGTAGAGACGGGGTTTCTCCATGTTGGTCAGGCTGGTCTCGAACTCCCGACCCCAAGTGATCCGCTCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGTCACCGCGCCCGGCTAGAAACATTATGTTCAAAGTCCGGGATGATATGGGGCACGAGTCCTAAATCTTCCAATTTACCTAAGACAGAGAAGAGGGTATAAGAAAGAGGAAGCACTCCTGACCCCAGTCCTTTATCCTACCTGAATTCTGAGCTCTCCCATTTCCAGGGGGTCACAGCCAAGATTAAAAGCCAAAGTGGCAGGGACAAGCGCCAGTCCGTCAGCGAGGGGCTCTCCCAGCGGTCCAGAGCCGGGTCCCAGTCTATCAGAGAGGTCCCAGCGAGGTTCTAGGACCTGCACCCTAGCCAAGTGCGGCTGTGAAGTGTTCGATGACTCTCTGGCCTGGGCCACCCACACCCATTCGCCCTGGAAGAGGCCAAGGCCACGGAGACAGCTCCGGCTCACCCCTAGTGAATCTCCAGTCCCTCCCAGAACTCCCTGGAGTCGCCGCACTGTGCCAGAAACCGCAAAGGAGGACACCACGGGCGGGGGTGGGGGCCGACTGCTGTCCCCAGACTCTGGACACAGTCTGGCCCGCCCGCGGAGCTCAGTCACAGCCAGCCGAGTCCCTGGGCCCAGCAGCCCTTGCAACGCCGGCCGCGTCTCCAGCACCCGCGGTCCGGGCACTGGGAGGGTCTCTCCGCGCCTCACCGGCAGCGGCCCGACTCGCGGTCCGAGCCCAGGCCCCAGCGAGGTGCCAAGCAGTGCCCAACCTAGCGCCGGGGGCCGCCGCACCGCCCGCGCCCGCACCCAGGCCCCGGAGCCCAGTGCCAGGAGCCGCAGCAGCGCGCGGCTAACCAGTAGCTGCGGCGGCCCGGGACCCTGCTCTTCGGTGCCCGCGTCCGGCCCCTCCAGGGCTGCCACCAGCAGCGCCGGCCCTGCCGGGCTCTCCCCTGCAGGCCTCAGGGCCAGCACCAGGCCCAGCTCCGCCGCCGGCCACGGGCCCCCGGGTGGCAGCAGCACTGCCAACGGGGGTGTCTCGGTCGGAAAGGGCTCCAGGACCCGCAAGACAGCCAGCGCCATGGTGACAGGACACCAACGAGGAGGGTGAAGGAGCGCAGCTTCCGGAGCCAGAGAGCCAGACGACTAGTGTGCGCGAGGGCCGCTTCCGCTTCCGTCAGGGGAGGCCAGAGGAAAAGGGGAGGGGGGTCGGGTGCCGCGAACTTGCTCTGAGGGGGTTAGCTGCGCCTCGGATTGATCTGCGTCGTGCCTCGATAGGCAGTAACCTTCATCGCTGCGGTTGCGTAGCGTTTACCCATGCGCCATTTGAACTTGTGCTTAAGGGATTTATCTTTGCCTTCTACGGAAGTAATGTTCTCTTAACTATTTTTCCCCGTGGCATGAACGTAACAGTTTATTGACTGATAAATGAACAGTCAGCATGCTCGGGATGACTGGGCCCAGTACTGGGAGCTCTAGGTGAAATGTTTCGGAAGGAGTCCGCTCCTCTGCGGAGCTCCTGCAGCTTCCCCTGTGGAACTGTGAGCACTGAGGTTTGAGGGTTGCAGGAAAGGTTGCAGGAGGGAGTAGCAGGATTAGAAAACTGTCTCACACTTGCTTATAGGTATATAGTGGCTGCTGAGTGAATTACTAGATGTGATTCATACAGCCCTGGAGTGCTTGGTGCCACCACACATGTTCCAGCACATCTGGCACAAAACCCATGTTCCAGGACTTCTTGCCCTGTTCATTGTTCTGTTTGTTTTACTCCCACCAAACTTAAGTTGAAGACAAAACAGCTTTTCTTTCACCCCCCCCCCCCAAATCCTTGCAGATCGGAAACCCATTCACTTTCTATCCTAGAGCGGGGCAGGCAGCAGAGCAGGCAGAAGGAAAGGAGTTCAAGGCTTCTGTCAGCATAACACCAACAGTCGACTTCCTGCGTGTGCTGTTATTTAGATTCCATCCTTCTCTTCACCTCCACTGTTCTGTACAAGACACTCAGCTAGTGGTAGGCCACATTTCCTTTTTTATGGCAACAGGGTCCTACTCTGTCACCCAGGTTGGAGTACAGTGGCACGATCCCCATTCATTGCAGCTTCTACCGTCCCAGGCTCAAGTGATCTCCCACCTCAGCCTCCCGAGTAACTGTAGCCGGGACCACAGGCACACGCCACCATACCCAGCCAATTTTTTTTTTGAGACGGAGTTTCGGTCTTGTTGCCCAGGCCAGAGTGCAATGGCACGATCTCAGCTCACTGCAATCTCCGCTTCCCAGGTTCAAAGAATCTCCTGCCCCAGCCTCCCAAGTAGCTGAGATTACAGGTGTGTGCCACCACACCCAGCTAATGTTGTATTTTCAGTAGAGACGGGGTTTCACCCTGTTGGTCAGGCTGGTCTCGAACTCCTGGCTTCAAGTGAGCCACCTGCTTACGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACTGCGCCTGGACTAATTTTTTATTTTTTGTAGAGACAGAGTTTCTCTGTGTTGCCTAGGCTGGTCTCAAACTCCTGGTCTGAAGAGATCCTCAGGCCTCAGCCTCCCAAAGTGCTGGGACTACAGGCATAAGCCATCATGTCCCACTGCATTTCCAATTATTAACAATTATTTTCACTTACAATAAATGAATTGGATGGTGCCAATCTCCATTTTCTAGACCTTACATTCTCTTTCAGCTACTGCTCAGCTTTCTCCATCTCTCCTTTCTTCTTGAGGCAGTCTTCTATTT
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Task1_train_10346
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A genomic change on Chromosome 6 affects PEX6 (peroxisomal biogenesis factor 6). Classify this variant as benign or pathogenic, and name the disease if relevant.
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Pathogenic; Heimler syndrome 2
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ACCAAAAACTTTCCTTGGATGTATTTAATAAAATATTAAAACTAAACACCAGGCACCAAAGATAATAAAGACTCCTTTCCTTCAAGGTATTTACAATATATAATTGGGGATTAAACAGATTATGTAATCATAACAAGATAGAATAAAATAAATGCCATAAAAAAGATAGAAAATGCTATAGGAGGAAGTTCTAAATTCGTGGCTGTGAGATCATGAAAGGCTTTGTGATAAAGGTGTCATCTTTAGATGGCTCTTGAGGGAAAGGAGGGTAGGATTTTAACAGATGAGGCTAGAATAATAGGAAACAATTTGAAGTCAAGGATAAGAATGAGCAAAAGCACAGAGACATCATCCTCCATATTATAAAGCACAATACTGAATACATTGTAGCAATTCAATAAACTAATTAGATTGAGTAGATTAACATACACATCTGAAACCTCACTTTTTTTTTTTTTTTTTTTTACACAGAATTTCGCTCTGTCGTCCAGGCTGGAGTGCAGTGGTGTGATCTGGGCTCACTGCAACCTCCACCTCCCAGGTTCAAACAATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGATTACAGGCATGCACCACCACACCCAAACTTCACCTTTCACCTGAATGGATGAAAGCCTTTTGTATGCCCCACTACATTATGGAGGCTTATGATATTTTGATTACAGAATATGGATCAATAGGCCGGGTGAGGTGGCTCACGCCTGTAATCCCAACACTTTGGGTGGATCACCTGAGGTCAGGAGTTCGAGACCAGCCTGACCAATACGGTGAAACCCCGTCTCTACTAAAAATTACAAAAATTAGCCGGGCGTCGTGGCGCGAGCCAGTAGTAGGAGGCTGAGACAGGAGAATCGCTTGAACCTGGGAGGCGGAGGTTGCAGTAAGCCGAGATCGCATCACCACATTCCAGCCTGGGTGACAGAGCAAGACCCCATCTCAAAAAAAAAAAAAAAAAAAAAAAAAGGAAAGAAAGAAAAAGAAAATAGATAAATGAGGCTAAGAAACATTATGCTTTTTTTTTTTTTTTTTTGAGACAGAGTTTCACTCTTATCGCCCAGGCTGGAGTCCAATGGCGCGATCTTGGCTCACCGCAACCTCCGCCTCCCAGGTTCAAGCGATTCTCCTGCTTCAGCCTCCCAAGTAGCTGGGATTAGAGGCATGCACCACCACGCCCGGCTAATTTTACATTTTTTTAGTAGAGACGGGGTTTCTCCATGTTGGTCAGGCTGGTCTCGAACTCCCGACCCCAAGTGATCCGCTCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGTCACCGCGCCCGGCTAGAAACATTATGTTCAAAGTCCGGGATGATATGGGGCACGAGTCCTAAATCTTCCAATTTACCTAAGACAGAGAAGAGGGTATAAGAAAGAGGAAGCACTCCTGACCCCAGTCCTTTATCCTACCTGAATTCTGAGCTCTCCCATTTCCAGGGGGTCACAGCCAAGATTAAAAGCCAAAGTGGCAGGGACAAGCGCCAGTCCGTCAGCGAGGGGCTCTCCCAGCGGTCCAGAGCCGGGTCCCAGTCTATCAGAGAGGTCCCAGCGAGGTTCTAGGACCTGCACCCTAGCCAAGTGCGGCTGTGAAGTGTTCGATGACTCTCTGGCCTGGGCCACCCACACCCATTCGCCCTGGAAGAGGCCAAGGCCACGGAGACAGCTCCGGCTCACCCCTAGTGAATCTCCAGTCCCTCCCAGAACTCCCTGGAGTCGCCGCACTGTGCCAGAAACCGCAAAGGAGGACACCACGGGCGGGGGTGGGGGCCGACTGCTGTCCCCAGACTCTGGACACAGTCTGGCCCGCCCGCGGAGCTCAGTCACAGCCAGCCGAGTCCCTGGGCCCAGCAGCCCTTGCAACGCCGGCCGCGTCTCCAGCACCCGCGGTCCGGGCACTGGGAGGGTCTCTCCGCGCCTCACCAGCAGCGGCCCGACTCGCGGTCCGAGCCCAGGCCCCAGCGAGGTGCCAAGCAGTGCCCAACCTAGCGCCGGGGGCCGCCGCACCGCCCGCGCCCGCACCCAGGCCCCGGAGCCCAGTGCCAGGAGCCGCAGCAGCGCGCGGCTAACCAGTAGCTGCGGCGGCCCGGGACCCTGCTCTTCGGTGCCCGCGTCCGGCCCCTCCAGGGCTGCCACCAGCAGCGCCGGCCCTGCCGGGCTCTCCCCTGCAGGCCTCAGGGCCAGCACCAGGCCCAGCTCCGCCGCCGGCCACGGGCCCCCGGGTGGCAGCAGCACTGCCAACGGGGGTGTCTCGGTCGGAAAGGGCTCCAGGACCCGCAAGACAGCCAGCGCCATGGTGACAGGACACCAACGAGGAGGGTGAAGGAGCGCAGCTTCCGGAGCCAGAGAGCCAGACGACTAGTGTGCGCGAGGGCCGCTTCCGCTTCCGTCAGGGGAGGCCAGAGGAAAAGGGGAGGGGGGTCGGGTGCCGCGAACTTGCTCTGAGGGGGTTAGCTGCGCCTCGGATTGATCTGCGTCGTGCCTCGATAGGCAGTAACCTTCATCGCTGCGGTTGCGTAGCGTTTACCCATGCGCCATTTGAACTTGTGCTTAAGGGATTTATCTTTGCCTTCTACGGAAGTAATGTTCTCTTAACTATTTTTCCCCGTGGCATGAACGTAACAGTTTATTGACTGATAAATGAACAGTCAGCATGCTCGGGATGACTGGGCCCAGTACTGGGAGCTCTAGGTGAAATGTTTCGGAAGGAGTCCGCTCCTCTGCGGAGCTCCTGCAGCTTCCCCTGTGGAACTGTGAGCACTGAGGTTTGAGGGTTGCAGGAAAGGTTGCAGGAGGGAGTAGCAGGATTAGAAAACTGTCTCACACTTGCTTATAGGTATATAGTGGCTGCTGAGTGAATTACTAGATGTGATTCATACAGCCCTGGAGTGCTTGGTGCCACCACACATGTTCCAGCACATCTGGCACAAAACCCATGTTCCAGGACTTCTTGCCCTGTTCATTGTTCTGTTTGTTTTACTCCCACCAAACTTAAGTTGAAGACAAAACAGCTTTTCTTTCACCCCCCCCCCCCAAATCCTTGCAGATCGGAAACCCATTCACTTTCTATCCTAGAGCGGGGCAGGCAGCAGAGCAGGCAGAAGGAAAGGAGTTCAAGGCTTCTGTCAGCATAACACCAACAGTCGACTTCCTGCGTGTGCTGTTATTTAGATTCCATCCTTCTCTTCACCTCCACTGTTCTGTACAAGACACTCAGCTAGTGGTAGGCCACATTTCCTTTTTTATGGCAACAGGGTCCTACTCTGTCACCCAGGTTGGAGTACAGTGGCACGATCCCCATTCATTGCAGCTTCTACCGTCCCAGGCTCAAGTGATCTCCCACCTCAGCCTCCCGAGTAACTGTAGCCGGGACCACAGGCACACGCCACCATACCCAGCCAATTTTTTTTTTGAGACGGAGTTTCGGTCTTGTTGCCCAGGCCAGAGTGCAATGGCACGATCTCAGCTCACTGCAATCTCCGCTTCCCAGGTTCAAAGAATCTCCTGCCCCAGCCTCCCAAGTAGCTGAGATTACAGGTGTGTGCCACCACACCCAGCTAATGTTGTATTTTCAGTAGAGACGGGGTTTCACCCTGTTGGTCAGGCTGGTCTCGAACTCCTGGCTTCAAGTGAGCCACCTGCTTACGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACTGCGCCTGGACTAATTTTTTATTTTTTGTAGAGACAGAGTTTCTCTGTGTTGCCTAGGCTGGTCTCAAACTCCTGGTCTGAAGAGATCCTCAGGCCTCAGCCTCCCAAAGTGCTGGGACTACAGGCATAAGCCATCATGTCCCACTGCATTTCCAATTATTAACAATTATTTTCACTTACAATAAATGAATTGGATGGTGCCAATCTCCATTTTCTAGACCTTACATTCTCTTTCAGCTACTGCTCAGCTTTCTCCATCTCTCCTTTCTTCTTGAGGCAGTCTTCTATTTTGTACATTATACATTCCTGAAAATTTGAAAGACAAATATATGAAAACTATTAGATTTGCATATTATAAGGGGCTG
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ACCAAAAACTTTCCTTGGATGTATTTAATAAAATATTAAAACTAAACACCAGGCACCAAAGATAATAAAGACTCCTTTCCTTCAAGGTATTTACAATATATAATTGGGGATTAAACAGATTATGTAATCATAACAAGATAGAATAAAATAAATGCCATAAAAAAGATAGAAAATGCTATAGGAGGAAGTTCTAAATTCGTGGCTGTGAGATCATGAAAGGCTTTGTGATAAAGGTGTCATCTTTAGATGGCTCTTGAGGGAAAGGAGGGTAGGATTTTAACAGATGAGGCTAGAATAATAGGAAACAATTTGAAGTCAAGGATAAGAATGAGCAAAAGCACAGAGACATCATCCTCCATATTATAAAGCACAATACTGAATACATTGTAGCAATTCAATAAACTAATTAGATTGAGTAGATTAACATACACATCTGAAACCTCACTTTTTTTTTTTTTTTTTTTTACACAGAATTTCGCTCTGTCGTCCAGGCTGGAGTGCAGTGGTGTGATCTGGGCTCACTGCAACCTCCACCTCCCAGGTTCAAACAATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGATTACAGGCATGCACCACCACACCCAAACTTCACCTTTCACCTGAATGGATGAAAGCCTTTTGTATGCCCCACTACATTATGGAGGCTTATGATATTTTGATTACAGAATATGGATCAATAGGCCGGGTGAGGTGGCTCACGCCTGTAATCCCAACACTTTGGGTGGATCACCTGAGGTCAGGAGTTCGAGACCAGCCTGACCAATACGGTGAAACCCCGTCTCTACTAAAAATTACAAAAATTAGCCGGGCGTCGTGGCGCGAGCCAGTAGTAGGAGGCTGAGACAGGAGAATCGCTTGAACCTGGGAGGCGGAGGTTGCAGTAAGCCGAGATCGCATCACCACATTCCAGCCTGGGTGACAGAGCAAGACCCCATCTCAAAAAAAAAAAAAAAAAAAAAAAAAGGAAAGAAAGAAAAAGAAAATAGATAAATGAGGCTAAGAAACATTATGCTTTTTTTTTTTTTTTTTTGAGACAGAGTTTCACTCTTATCGCCCAGGCTGGAGTCCAATGGCGCGATCTTGGCTCACCGCAACCTCCGCCTCCCAGGTTCAAGCGATTCTCCTGCTTCAGCCTCCCAAGTAGCTGGGATTAGAGGCATGCACCACCACGCCCGGCTAATTTTACATTTTTTTAGTAGAGACGGGGTTTCTCCATGTTGGTCAGGCTGGTCTCGAACTCCCGACCCCAAGTGATCCGCTCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGTCACCGCGCCCGGCTAGAAACATTATGTTCAAAGTCCGGGATGATATGGGGCACGAGTCCTAAATCTTCCAATTTACCTAAGACAGAGAAGAGGGTATAAGAAAGAGGAAGCACTCCTGACCCCAGTCCTTTATCCTACCTGAATTCTGAGCTCTCCCATTTCCAGGGGGTCACAGCCAAGATTAAAAGCCAAAGTGGCAGGGACAAGCGCCAGTCCGTCAGCGAGGGGCTCTCCCAGCGGTCCAGAGCCGGGTCCCAGTCTATCAGAGAGGTCCCAGCGAGGTTCTAGGACCTGCACCCTAGCCAAGTGCGGCTGTGAAGTGTTCGATGACTCTCTGGCCTGGGCCACCCACACCCATTCGCCCTGGAAGAGGCCAAGGCCACGGAGACAGCTCCGGCTCACCCCTAGTGAATCTCCAGTCCCTCCCAGAACTCCCTGGAGTCGCCGCACTGTGCCAGAAACCGCAAAGGAGGACACCACGGGCGGGGGTGGGGGCCGACTGCTGTCCCCAGACTCTGGACACAGTCTGGCCCGCCCGCGGAGCTCAGTCACAGCCAGCCGAGTCCCTGGGCCCAGCAGCCCTTGCAACGCCGGCCGCGTCTCCAGCACCCGCGGTCCGGGCACTGGGAGGGTCTCTCCGCGCCTCACCAGCAGCGGCCCGACTCGCGGTCCGAGCCCAGGCCCCAGCGAGGTGCCAAGCAGTGCCCAACCTAGCGCCGGGGGCAGCCGCACCGCCCGCGCCCGCACCCAGGCCCCGGAGCCCAGTGCCAGGAGCCGCAGCAGCGCGCGGCTAACCAGTAGCTGCGGCGGCCCGGGACCCTGCTCTTCGGTGCCCGCGTCCGGCCCCTCCAGGGCTGCCACCAGCAGCGCCGGCCCTGCCGGGCTCTCCCCTGCAGGCCTCAGGGCCAGCACCAGGCCCAGCTCCGCCGCCGGCCACGGGCCCCCGGGTGGCAGCAGCACTGCCAACGGGGGTGTCTCGGTCGGAAAGGGCTCCAGGACCCGCAAGACAGCCAGCGCCATGGTGACAGGACACCAACGAGGAGGGTGAAGGAGCGCAGCTTCCGGAGCCAGAGAGCCAGACGACTAGTGTGCGCGAGGGCCGCTTCCGCTTCCGTCAGGGGAGGCCAGAGGAAAAGGGGAGGGGGGTCGGGTGCCGCGAACTTGCTCTGAGGGGGTTAGCTGCGCCTCGGATTGATCTGCGTCGTGCCTCGATAGGCAGTAACCTTCATCGCTGCGGTTGCGTAGCGTTTACCCATGCGCCATTTGAACTTGTGCTTAAGGGATTTATCTTTGCCTTCTACGGAAGTAATGTTCTCTTAACTATTTTTCCCCGTGGCATGAACGTAACAGTTTATTGACTGATAAATGAACAGTCAGCATGCTCGGGATGACTGGGCCCAGTACTGGGAGCTCTAGGTGAAATGTTTCGGAAGGAGTCCGCTCCTCTGCGGAGCTCCTGCAGCTTCCCCTGTGGAACTGTGAGCACTGAGGTTTGAGGGTTGCAGGAAAGGTTGCAGGAGGGAGTAGCAGGATTAGAAAACTGTCTCACACTTGCTTATAGGTATATAGTGGCTGCTGAGTGAATTACTAGATGTGATTCATACAGCCCTGGAGTGCTTGGTGCCACCACACATGTTCCAGCACATCTGGCACAAAACCCATGTTCCAGGACTTCTTGCCCTGTTCATTGTTCTGTTTGTTTTACTCCCACCAAACTTAAGTTGAAGACAAAACAGCTTTTCTTTCACCCCCCCCCCCCAAATCCTTGCAGATCGGAAACCCATTCACTTTCTATCCTAGAGCGGGGCAGGCAGCAGAGCAGGCAGAAGGAAAGGAGTTCAAGGCTTCTGTCAGCATAACACCAACAGTCGACTTCCTGCGTGTGCTGTTATTTAGATTCCATCCTTCTCTTCACCTCCACTGTTCTGTACAAGACACTCAGCTAGTGGTAGGCCACATTTCCTTTTTTATGGCAACAGGGTCCTACTCTGTCACCCAGGTTGGAGTACAGTGGCACGATCCCCATTCATTGCAGCTTCTACCGTCCCAGGCTCAAGTGATCTCCCACCTCAGCCTCCCGAGTAACTGTAGCCGGGACCACAGGCACACGCCACCATACCCAGCCAATTTTTTTTTTGAGACGGAGTTTCGGTCTTGTTGCCCAGGCCAGAGTGCAATGGCACGATCTCAGCTCACTGCAATCTCCGCTTCCCAGGTTCAAAGAATCTCCTGCCCCAGCCTCCCAAGTAGCTGAGATTACAGGTGTGTGCCACCACACCCAGCTAATGTTGTATTTTCAGTAGAGACGGGGTTTCACCCTGTTGGTCAGGCTGGTCTCGAACTCCTGGCTTCAAGTGAGCCACCTGCTTACGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACTGCGCCTGGACTAATTTTTTATTTTTTGTAGAGACAGAGTTTCTCTGTGTTGCCTAGGCTGGTCTCAAACTCCTGGTCTGAAGAGATCCTCAGGCCTCAGCCTCCCAAAGTGCTGGGACTACAGGCATAAGCCATCATGTCCCACTGCATTTCCAATTATTAACAATTATTTTCACTTACAATAAATGAATTGGATGGTGCCAATCTCCATTTTCTAGACCTTACATTCTCTTTCAGCTACTGCTCAGCTTTCTCCATCTCTCCTTTCTTCTTGAGGCAGTCTTCTATTTTGTACATTATACATTCCTGAAAATTTGAAAGACAAATATATGAAAACTATTAGATTTGCATATTATAAGGGGCTG
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Task1_train_10347
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This variant affects gene PEX6 (peroxisomal biogenesis factor 6) located on Chromosome 6. Evaluate its biological effect and specify any disease association.
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Pathogenic; Heimler syndrome 2
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TATTTAATAAAATATTAAAACTAAACACCAGGCACCAAAGATAATAAAGACTCCTTTCCTTCAAGGTATTTACAATATATAATTGGGGATTAAACAGATTATGTAATCATAACAAGATAGAATAAAATAAATGCCATAAAAAAGATAGAAAATGCTATAGGAGGAAGTTCTAAATTCGTGGCTGTGAGATCATGAAAGGCTTTGTGATAAAGGTGTCATCTTTAGATGGCTCTTGAGGGAAAGGAGGGTAGGATTTTAACAGATGAGGCTAGAATAATAGGAAACAATTTGAAGTCAAGGATAAGAATGAGCAAAAGCACAGAGACATCATCCTCCATATTATAAAGCACAATACTGAATACATTGTAGCAATTCAATAAACTAATTAGATTGAGTAGATTAACATACACATCTGAAACCTCACTTTTTTTTTTTTTTTTTTTTACACAGAATTTCGCTCTGTCGTCCAGGCTGGAGTGCAGTGGTGTGATCTGGGCTCACTGCAACCTCCACCTCCCAGGTTCAAACAATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGATTACAGGCATGCACCACCACACCCAAACTTCACCTTTCACCTGAATGGATGAAAGCCTTTTGTATGCCCCACTACATTATGGAGGCTTATGATATTTTGATTACAGAATATGGATCAATAGGCCGGGTGAGGTGGCTCACGCCTGTAATCCCAACACTTTGGGTGGATCACCTGAGGTCAGGAGTTCGAGACCAGCCTGACCAATACGGTGAAACCCCGTCTCTACTAAAAATTACAAAAATTAGCCGGGCGTCGTGGCGCGAGCCAGTAGTAGGAGGCTGAGACAGGAGAATCGCTTGAACCTGGGAGGCGGAGGTTGCAGTAAGCCGAGATCGCATCACCACATTCCAGCCTGGGTGACAGAGCAAGACCCCATCTCAAAAAAAAAAAAAAAAAAAAAAAAAGGAAAGAAAGAAAAAGAAAATAGATAAATGAGGCTAAGAAACATTATGCTTTTTTTTTTTTTTTTTTGAGACAGAGTTTCACTCTTATCGCCCAGGCTGGAGTCCAATGGCGCGATCTTGGCTCACCGCAACCTCCGCCTCCCAGGTTCAAGCGATTCTCCTGCTTCAGCCTCCCAAGTAGCTGGGATTAGAGGCATGCACCACCACGCCCGGCTAATTTTACATTTTTTTAGTAGAGACGGGGTTTCTCCATGTTGGTCAGGCTGGTCTCGAACTCCCGACCCCAAGTGATCCGCTCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGTCACCGCGCCCGGCTAGAAACATTATGTTCAAAGTCCGGGATGATATGGGGCACGAGTCCTAAATCTTCCAATTTACCTAAGACAGAGAAGAGGGTATAAGAAAGAGGAAGCACTCCTGACCCCAGTCCTTTATCCTACCTGAATTCTGAGCTCTCCCATTTCCAGGGGGTCACAGCCAAGATTAAAAGCCAAAGTGGCAGGGACAAGCGCCAGTCCGTCAGCGAGGGGCTCTCCCAGCGGTCCAGAGCCGGGTCCCAGTCTATCAGAGAGGTCCCAGCGAGGTTCTAGGACCTGCACCCTAGCCAAGTGCGGCTGTGAAGTGTTCGATGACTCTCTGGCCTGGGCCACCCACACCCATTCGCCCTGGAAGAGGCCAAGGCCACGGAGACAGCTCCGGCTCACCCCTAGTGAATCTCCAGTCCCTCCCAGAACTCCCTGGAGTCGCCGCACTGTGCCAGAAACCGCAAAGGAGGACACCACGGGCGGGGGTGGGGGCCGACTGCTGTCCCCAGACTCTGGACACAGTCTGGCCCGCCCGCGGAGCTCAGTCACAGCCAGCCGAGTCCCTGGGCCCAGCAGCCCTTGCAACGCCGGCCGCGTCTCCAGCACCCGCGGTCCGGGCACTGGGAGGGTCTCTCCGCGCCTCACCAGCAGCGGCCCGACTCGCGGTCCGAGCCCAGGCCCCAGCGAGGTGCCAAGCAGTGCCCAACCTAGCGCCGGGGGCCGCCGCACCGCCCGCGCCCGCACCCAGGCCCCGGAGCCCAGTGCCAGGAGCCGCAGCAGCGCGCGGCTAACCAGTAGCTGCGGCGGCCCGGGACCCTGCTCTTCGGTGCCCGCGTCCGGCCCCTCCAGGGCTGCCACCAGCAGCGCCGGCCCTGCCGGGCTCTCCCCTGCAGGCCTCAGGGCCAGCACCAGGCCCAGCTCCGCCGCCGGCCACGGGCCCCCGGGTGGCAGCAGCACTGCCAACGGGGGTGTCTCGGTCGGAAAGGGCTCCAGGACCCGCAAGACAGCCAGCGCCATGGTGACAGGACACCAACGAGGAGGGTGAAGGAGCGCAGCTTCCGGAGCCAGAGAGCCAGACGACTAGTGTGCGCGAGGGCCGCTTCCGCTTCCGTCAGGGGAGGCCAGAGGAAAAGGGGAGGGGGGTCGGGTGCCGCGAACTTGCTCTGAGGGGGTTAGCTGCGCCTCGGATTGATCTGCGTCGTGCCTCGATAGGCAGTAACCTTCATCGCTGCGGTTGCGTAGCGTTTACCCATGCGCCATTTGAACTTGTGCTTAAGGGATTTATCTTTGCCTTCTACGGAAGTAATGTTCTCTTAACTATTTTTCCCCGTGGCATGAACGTAACAGTTTATTGACTGATAAATGAACAGTCAGCATGCTCGGGATGACTGGGCCCAGTACTGGGAGCTCTAGGTGAAATGTTTCGGAAGGAGTCCGCTCCTCTGCGGAGCTCCTGCAGCTTCCCCTGTGGAACTGTGAGCACTGAGGTTTGAGGGTTGCAGGAAAGGTTGCAGGAGGGAGTAGCAGGATTAGAAAACTGTCTCACACTTGCTTATAGGTATATAGTGGCTGCTGAGTGAATTACTAGATGTGATTCATACAGCCCTGGAGTGCTTGGTGCCACCACACATGTTCCAGCACATCTGGCACAAAACCCATGTTCCAGGACTTCTTGCCCTGTTCATTGTTCTGTTTGTTTTACTCCCACCAAACTTAAGTTGAAGACAAAACAGCTTTTCTTTCACCCCCCCCCCCCAAATCCTTGCAGATCGGAAACCCATTCACTTTCTATCCTAGAGCGGGGCAGGCAGCAGAGCAGGCAGAAGGAAAGGAGTTCAAGGCTTCTGTCAGCATAACACCAACAGTCGACTTCCTGCGTGTGCTGTTATTTAGATTCCATCCTTCTCTTCACCTCCACTGTTCTGTACAAGACACTCAGCTAGTGGTAGGCCACATTTCCTTTTTTATGGCAACAGGGTCCTACTCTGTCACCCAGGTTGGAGTACAGTGGCACGATCCCCATTCATTGCAGCTTCTACCGTCCCAGGCTCAAGTGATCTCCCACCTCAGCCTCCCGAGTAACTGTAGCCGGGACCACAGGCACACGCCACCATACCCAGCCAATTTTTTTTTTGAGACGGAGTTTCGGTCTTGTTGCCCAGGCCAGAGTGCAATGGCACGATCTCAGCTCACTGCAATCTCCGCTTCCCAGGTTCAAAGAATCTCCTGCCCCAGCCTCCCAAGTAGCTGAGATTACAGGTGTGTGCCACCACACCCAGCTAATGTTGTATTTTCAGTAGAGACGGGGTTTCACCCTGTTGGTCAGGCTGGTCTCGAACTCCTGGCTTCAAGTGAGCCACCTGCTTACGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACTGCGCCTGGACTAATTTTTTATTTTTTGTAGAGACAGAGTTTCTCTGTGTTGCCTAGGCTGGTCTCAAACTCCTGGTCTGAAGAGATCCTCAGGCCTCAGCCTCCCAAAGTGCTGGGACTACAGGCATAAGCCATCATGTCCCACTGCATTTCCAATTATTAACAATTATTTTCACTTACAATAAATGAATTGGATGGTGCCAATCTCCATTTTCTAGACCTTACATTCTCTTTCAGCTACTGCTCAGCTTTCTCCATCTCTCCTTTCTTCTTGAGGCAGTCTTCTATTTTGTACATTATACATTCCTGAAAATTTGAAAGACAAATATATGAAAACTATTAGATTTGCATATTATAAGGGGCTGGGCGCAGTGGCTCATGGCTGT
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TATTTAATAAAATATTAAAACTAAACACCAGGCACCAAAGATAATAAAGACTCCTTTCCTTCAAGGTATTTACAATATATAATTGGGGATTAAACAGATTATGTAATCATAACAAGATAGAATAAAATAAATGCCATAAAAAAGATAGAAAATGCTATAGGAGGAAGTTCTAAATTCGTGGCTGTGAGATCATGAAAGGCTTTGTGATAAAGGTGTCATCTTTAGATGGCTCTTGAGGGAAAGGAGGGTAGGATTTTAACAGATGAGGCTAGAATAATAGGAAACAATTTGAAGTCAAGGATAAGAATGAGCAAAAGCACAGAGACATCATCCTCCATATTATAAAGCACAATACTGAATACATTGTAGCAATTCAATAAACTAATTAGATTGAGTAGATTAACATACACATCTGAAACCTCACTTTTTTTTTTTTTTTTTTTTACACAGAATTTCGCTCTGTCGTCCAGGCTGGAGTGCAGTGGTGTGATCTGGGCTCACTGCAACCTCCACCTCCCAGGTTCAAACAATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGATTACAGGCATGCACCACCACACCCAAACTTCACCTTTCACCTGAATGGATGAAAGCCTTTTGTATGCCCCACTACATTATGGAGGCTTATGATATTTTGATTACAGAATATGGATCAATAGGCCGGGTGAGGTGGCTCACGCCTGTAATCCCAACACTTTGGGTGGATCACCTGAGGTCAGGAGTTCGAGACCAGCCTGACCAATACGGTGAAACCCCGTCTCTACTAAAAATTACAAAAATTAGCCGGGCGTCGTGGCGCGAGCCAGTAGTAGGAGGCTGAGACAGGAGAATCGCTTGAACCTGGGAGGCGGAGGTTGCAGTAAGCCGAGATCGCATCACCACATTCCAGCCTGGGTGACAGAGCAAGACCCCATCTCAAAAAAAAAAAAAAAAAAAAAAAAAGGAAAGAAAGAAAAAGAAAATAGATAAATGAGGCTAAGAAACATTATGCTTTTTTTTTTTTTTTTTTGAGACAGAGTTTCACTCTTATCGCCCAGGCTGGAGTCCAATGGCGCGATCTTGGCTCACCGCAACCTCCGCCTCCCAGGTTCAAGCGATTCTCCTGCTTCAGCCTCCCAAGTAGCTGGGATTAGAGGCATGCACCACCACGCCCGGCTAATTTTACATTTTTTTAGTAGAGACGGGGTTTCTCCATGTTGGTCAGGCTGGTCTCGAACTCCCGACCCCAAGTGATCCGCTCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGTCACCGCGCCCGGCTAGAAACATTATGTTCAAAGTCCGGGATGATATGGGGCACGAGTCCTAAATCTTCCAATTTACCTAAGACAGAGAAGAGGGTATAAGAAAGAGGAAGCACTCCTGACCCCAGTCCTTTATCCTACCTGAATTCTGAGCTCTCCCATTTCCAGGGGGTCACAGCCAAGATTAAAAGCCAAAGTGGCAGGGACAAGCGCCAGTCCGTCAGCGAGGGGCTCTCCCAGCGGTCCAGAGCCGGGTCCCAGTCTATCAGAGAGGTCCCAGCGAGGTTCTAGGACCTGCACCCTAGCCAAGTGCGGCTGTGAAGTGTTCGATGACTCTCTGGCCTGGGCCACCCACACCCATTCGCCCTGGAAGAGGCCAAGGCCACGGAGACAGCTCCGGCTCACCCCTAGTGAATCTCCAGTCCCTCCCAGAACTCCCTGGAGTCGCCGCACTGTGCCAGAAACCGCAAAGGAGGACACCACGGGCGGGGGTGGGGGCCGACTGCTGTCCCCAGACTCTGGACACAGTCTGGCCCGCCCGCGGAGCTCAGTCACAGCCAGCCGAGTCCCTGGGCCCAGCAGCCCTTGCAACGCCGGCCGCGTCTCCAGCACCCGCGGTCCGGGCACTGGGAGGGTCTCTCCGCGCCTCACCAGCAGCGGCCCGACTCGCGGTCCGAGCCCAGGCCCCAGCGAGGTGCCAAGCAGTGCCCAACCTAGCGCCGGGGGCCGCCGCACCGCCCGCGCCCGCCCCCAGGCCCCGGAGCCCAGTGCCAGGAGCCGCAGCAGCGCGCGGCTAACCAGTAGCTGCGGCGGCCCGGGACCCTGCTCTTCGGTGCCCGCGTCCGGCCCCTCCAGGGCTGCCACCAGCAGCGCCGGCCCTGCCGGGCTCTCCCCTGCAGGCCTCAGGGCCAGCACCAGGCCCAGCTCCGCCGCCGGCCACGGGCCCCCGGGTGGCAGCAGCACTGCCAACGGGGGTGTCTCGGTCGGAAAGGGCTCCAGGACCCGCAAGACAGCCAGCGCCATGGTGACAGGACACCAACGAGGAGGGTGAAGGAGCGCAGCTTCCGGAGCCAGAGAGCCAGACGACTAGTGTGCGCGAGGGCCGCTTCCGCTTCCGTCAGGGGAGGCCAGAGGAAAAGGGGAGGGGGGTCGGGTGCCGCGAACTTGCTCTGAGGGGGTTAGCTGCGCCTCGGATTGATCTGCGTCGTGCCTCGATAGGCAGTAACCTTCATCGCTGCGGTTGCGTAGCGTTTACCCATGCGCCATTTGAACTTGTGCTTAAGGGATTTATCTTTGCCTTCTACGGAAGTAATGTTCTCTTAACTATTTTTCCCCGTGGCATGAACGTAACAGTTTATTGACTGATAAATGAACAGTCAGCATGCTCGGGATGACTGGGCCCAGTACTGGGAGCTCTAGGTGAAATGTTTCGGAAGGAGTCCGCTCCTCTGCGGAGCTCCTGCAGCTTCCCCTGTGGAACTGTGAGCACTGAGGTTTGAGGGTTGCAGGAAAGGTTGCAGGAGGGAGTAGCAGGATTAGAAAACTGTCTCACACTTGCTTATAGGTATATAGTGGCTGCTGAGTGAATTACTAGATGTGATTCATACAGCCCTGGAGTGCTTGGTGCCACCACACATGTTCCAGCACATCTGGCACAAAACCCATGTTCCAGGACTTCTTGCCCTGTTCATTGTTCTGTTTGTTTTACTCCCACCAAACTTAAGTTGAAGACAAAACAGCTTTTCTTTCACCCCCCCCCCCCAAATCCTTGCAGATCGGAAACCCATTCACTTTCTATCCTAGAGCGGGGCAGGCAGCAGAGCAGGCAGAAGGAAAGGAGTTCAAGGCTTCTGTCAGCATAACACCAACAGTCGACTTCCTGCGTGTGCTGTTATTTAGATTCCATCCTTCTCTTCACCTCCACTGTTCTGTACAAGACACTCAGCTAGTGGTAGGCCACATTTCCTTTTTTATGGCAACAGGGTCCTACTCTGTCACCCAGGTTGGAGTACAGTGGCACGATCCCCATTCATTGCAGCTTCTACCGTCCCAGGCTCAAGTGATCTCCCACCTCAGCCTCCCGAGTAACTGTAGCCGGGACCACAGGCACACGCCACCATACCCAGCCAATTTTTTTTTTGAGACGGAGTTTCGGTCTTGTTGCCCAGGCCAGAGTGCAATGGCACGATCTCAGCTCACTGCAATCTCCGCTTCCCAGGTTCAAAGAATCTCCTGCCCCAGCCTCCCAAGTAGCTGAGATTACAGGTGTGTGCCACCACACCCAGCTAATGTTGTATTTTCAGTAGAGACGGGGTTTCACCCTGTTGGTCAGGCTGGTCTCGAACTCCTGGCTTCAAGTGAGCCACCTGCTTACGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACTGCGCCTGGACTAATTTTTTATTTTTTGTAGAGACAGAGTTTCTCTGTGTTGCCTAGGCTGGTCTCAAACTCCTGGTCTGAAGAGATCCTCAGGCCTCAGCCTCCCAAAGTGCTGGGACTACAGGCATAAGCCATCATGTCCCACTGCATTTCCAATTATTAACAATTATTTTCACTTACAATAAATGAATTGGATGGTGCCAATCTCCATTTTCTAGACCTTACATTCTCTTTCAGCTACTGCTCAGCTTTCTCCATCTCTCCTTTCTTCTTGAGGCAGTCTTCTATTTTGTACATTATACATTCCTGAAAATTTGAAAGACAAATATATGAAAACTATTAGATTTGCATATTATAAGGGGCTGGGCGCAGTGGCTCATGGCTGT
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Task1_train_10348
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A genomic change on Chromosome 6 affects PEX6 (peroxisomal biogenesis factor 6). Classify this variant as benign or pathogenic, and name the disease if relevant.
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Pathogenic; Peroxisome biogenesis disorder
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ATAATAGGAAACAATTTGAAGTCAAGGATAAGAATGAGCAAAAGCACAGAGACATCATCCTCCATATTATAAAGCACAATACTGAATACATTGTAGCAATTCAATAAACTAATTAGATTGAGTAGATTAACATACACATCTGAAACCTCACTTTTTTTTTTTTTTTTTTTTACACAGAATTTCGCTCTGTCGTCCAGGCTGGAGTGCAGTGGTGTGATCTGGGCTCACTGCAACCTCCACCTCCCAGGTTCAAACAATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGATTACAGGCATGCACCACCACACCCAAACTTCACCTTTCACCTGAATGGATGAAAGCCTTTTGTATGCCCCACTACATTATGGAGGCTTATGATATTTTGATTACAGAATATGGATCAATAGGCCGGGTGAGGTGGCTCACGCCTGTAATCCCAACACTTTGGGTGGATCACCTGAGGTCAGGAGTTCGAGACCAGCCTGACCAATACGGTGAAACCCCGTCTCTACTAAAAATTACAAAAATTAGCCGGGCGTCGTGGCGCGAGCCAGTAGTAGGAGGCTGAGACAGGAGAATCGCTTGAACCTGGGAGGCGGAGGTTGCAGTAAGCCGAGATCGCATCACCACATTCCAGCCTGGGTGACAGAGCAAGACCCCATCTCAAAAAAAAAAAAAAAAAAAAAAAAAGGAAAGAAAGAAAAAGAAAATAGATAAATGAGGCTAAGAAACATTATGCTTTTTTTTTTTTTTTTTTGAGACAGAGTTTCACTCTTATCGCCCAGGCTGGAGTCCAATGGCGCGATCTTGGCTCACCGCAACCTCCGCCTCCCAGGTTCAAGCGATTCTCCTGCTTCAGCCTCCCAAGTAGCTGGGATTAGAGGCATGCACCACCACGCCCGGCTAATTTTACATTTTTTTAGTAGAGACGGGGTTTCTCCATGTTGGTCAGGCTGGTCTCGAACTCCCGACCCCAAGTGATCCGCTCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGTCACCGCGCCCGGCTAGAAACATTATGTTCAAAGTCCGGGATGATATGGGGCACGAGTCCTAAATCTTCCAATTTACCTAAGACAGAGAAGAGGGTATAAGAAAGAGGAAGCACTCCTGACCCCAGTCCTTTATCCTACCTGAATTCTGAGCTCTCCCATTTCCAGGGGGTCACAGCCAAGATTAAAAGCCAAAGTGGCAGGGACAAGCGCCAGTCCGTCAGCGAGGGGCTCTCCCAGCGGTCCAGAGCCGGGTCCCAGTCTATCAGAGAGGTCCCAGCGAGGTTCTAGGACCTGCACCCTAGCCAAGTGCGGCTGTGAAGTGTTCGATGACTCTCTGGCCTGGGCCACCCACACCCATTCGCCCTGGAAGAGGCCAAGGCCACGGAGACAGCTCCGGCTCACCCCTAGTGAATCTCCAGTCCCTCCCAGAACTCCCTGGAGTCGCCGCACTGTGCCAGAAACCGCAAAGGAGGACACCACGGGCGGGGGTGGGGGCCGACTGCTGTCCCCAGACTCTGGACACAGTCTGGCCCGCCCGCGGAGCTCAGTCACAGCCAGCCGAGTCCCTGGGCCCAGCAGCCCTTGCAACGCCGGCCGCGTCTCCAGCACCCGCGGTCCGGGCACTGGGAGGGTCTCTCCGCGCCTCACCAGCAGCGGCCCGACTCGCGGTCCGAGCCCAGGCCCCAGCGAGGTGCCAAGCAGTGCCCAACCTAGCGCCGGGGGCCGCCGCACCGCCCGCGCCCGCACCCAGGCCCCGGAGCCCAGTGCCAGGAGCCGCAGCAGCGCGCGGCTAACCAGTAGCTGCGGCGGCCCGGGACCCTGCTCTTCGGTGCCCGCGTCCGGCCCCTCCAGGGCTGCCACCAGCAGCGCCGGCCCTGCCGGGCTCTCCCCTGCAGGCCTCAGGGCCAGCACCAGGCCCAGCTCCGCCGCCGGCCACGGGCCCCCGGGTGGCAGCAGCACTGCCAACGGGGGTGTCTCGGTCGGAAAGGGCTCCAGGACCCGCAAGACAGCCAGCGCCATGGTGACAGGACACCAACGAGGAGGGTGAAGGAGCGCAGCTTCCGGAGCCAGAGAGCCAGACGACTAGTGTGCGCGAGGGCCGCTTCCGCTTCCGTCAGGGGAGGCCAGAGGAAAAGGGGAGGGGGGTCGGGTGCCGCGAACTTGCTCTGAGGGGGTTAGCTGCGCCTCGGATTGATCTGCGTCGTGCCTCGATAGGCAGTAACCTTCATCGCTGCGGTTGCGTAGCGTTTACCCATGCGCCATTTGAACTTGTGCTTAAGGGATTTATCTTTGCCTTCTACGGAAGTAATGTTCTCTTAACTATTTTTCCCCGTGGCATGAACGTAACAGTTTATTGACTGATAAATGAACAGTCAGCATGCTCGGGATGACTGGGCCCAGTACTGGGAGCTCTAGGTGAAATGTTTCGGAAGGAGTCCGCTCCTCTGCGGAGCTCCTGCAGCTTCCCCTGTGGAACTGTGAGCACTGAGGTTTGAGGGTTGCAGGAAAGGTTGCAGGAGGGAGTAGCAGGATTAGAAAACTGTCTCACACTTGCTTATAGGTATATAGTGGCTGCTGAGTGAATTACTAGATGTGATTCATACAGCCCTGGAGTGCTTGGTGCCACCACACATGTTCCAGCACATCTGGCACAAAACCCATGTTCCAGGACTTCTTGCCCTGTTCATTGTTCTGTTTGTTTTACTCCCACCAAACTTAAGTTGAAGACAAAACAGCTTTTCTTTCACCCCCCCCCCCCAAATCCTTGCAGATCGGAAACCCATTCACTTTCTATCCTAGAGCGGGGCAGGCAGCAGAGCAGGCAGAAGGAAAGGAGTTCAAGGCTTCTGTCAGCATAACACCAACAGTCGACTTCCTGCGTGTGCTGTTATTTAGATTCCATCCTTCTCTTCACCTCCACTGTTCTGTACAAGACACTCAGCTAGTGGTAGGCCACATTTCCTTTTTTATGGCAACAGGGTCCTACTCTGTCACCCAGGTTGGAGTACAGTGGCACGATCCCCATTCATTGCAGCTTCTACCGTCCCAGGCTCAAGTGATCTCCCACCTCAGCCTCCCGAGTAACTGTAGCCGGGACCACAGGCACACGCCACCATACCCAGCCAATTTTTTTTTTGAGACGGAGTTTCGGTCTTGTTGCCCAGGCCAGAGTGCAATGGCACGATCTCAGCTCACTGCAATCTCCGCTTCCCAGGTTCAAAGAATCTCCTGCCCCAGCCTCCCAAGTAGCTGAGATTACAGGTGTGTGCCACCACACCCAGCTAATGTTGTATTTTCAGTAGAGACGGGGTTTCACCCTGTTGGTCAGGCTGGTCTCGAACTCCTGGCTTCAAGTGAGCCACCTGCTTACGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACTGCGCCTGGACTAATTTTTTATTTTTTGTAGAGACAGAGTTTCTCTGTGTTGCCTAGGCTGGTCTCAAACTCCTGGTCTGAAGAGATCCTCAGGCCTCAGCCTCCCAAAGTGCTGGGACTACAGGCATAAGCCATCATGTCCCACTGCATTTCCAATTATTAACAATTATTTTCACTTACAATAAATGAATTGGATGGTGCCAATCTCCATTTTCTAGACCTTACATTCTCTTTCAGCTACTGCTCAGCTTTCTCCATCTCTCCTTTCTTCTTGAGGCAGTCTTCTATTTTGTACATTATACATTCCTGAAAATTTGAAAGACAAATATATGAAAACTATTAGATTTGCATATTATAAGGGGCTGGGCGCAGTGGCTCATGGCTGTAATCCCAGCACTTTGGGAGGCCAAGTGGGTGGACTGCTTGAGGCCAGGAGTTTGAGACCAGCCTGGCCAACATGGTGAAACCCCGTCTCTACTAAAAATACAAAAATTAGCTGGGTATGGTGGTGTGTGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATGGCGTGAAGCCGGGAGACAGAGCTTGCAGTGAGCCGAGACTGCGCCACTGCACTCCAGCCTGGGTGACAGAGTGAGATTCCGTCTCAAAAAAATAAATAATAGA
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ATAATAGGAAACAATTTGAAGTCAAGGATAAGAATGAGCAAAAGCACAGAGACATCATCCTCCATATTATAAAGCACAATACTGAATACATTGTAGCAATTCAATAAACTAATTAGATTGAGTAGATTAACATACACATCTGAAACCTCACTTTTTTTTTTTTTTTTTTTTACACAGAATTTCGCTCTGTCGTCCAGGCTGGAGTGCAGTGGTGTGATCTGGGCTCACTGCAACCTCCACCTCCCAGGTTCAAACAATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGATTACAGGCATGCACCACCACACCCAAACTTCACCTTTCACCTGAATGGATGAAAGCCTTTTGTATGCCCCACTACATTATGGAGGCTTATGATATTTTGATTACAGAATATGGATCAATAGGCCGGGTGAGGTGGCTCACGCCTGTAATCCCAACACTTTGGGTGGATCACCTGAGGTCAGGAGTTCGAGACCAGCCTGACCAATACGGTGAAACCCCGTCTCTACTAAAAATTACAAAAATTAGCCGGGCGTCGTGGCGCGAGCCAGTAGTAGGAGGCTGAGACAGGAGAATCGCTTGAACCTGGGAGGCGGAGGTTGCAGTAAGCCGAGATCGCATCACCACATTCCAGCCTGGGTGACAGAGCAAGACCCCATCTCAAAAAAAAAAAAAAAAAAAAAAAAAGGAAAGAAAGAAAAAGAAAATAGATAAATGAGGCTAAGAAACATTATGCTTTTTTTTTTTTTTTTTTGAGACAGAGTTTCACTCTTATCGCCCAGGCTGGAGTCCAATGGCGCGATCTTGGCTCACCGCAACCTCCGCCTCCCAGGTTCAAGCGATTCTCCTGCTTCAGCCTCCCAAGTAGCTGGGATTAGAGGCATGCACCACCACGCCCGGCTAATTTTACATTTTTTTAGTAGAGACGGGGTTTCTCCATGTTGGTCAGGCTGGTCTCGAACTCCCGACCCCAAGTGATCCGCTCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGTCACCGCGCCCGGCTAGAAACATTATGTTCAAAGTCCGGGATGATATGGGGCACGAGTCCTAAATCTTCCAATTTACCTAAGACAGAGAAGAGGGTATAAGAAAGAGGAAGCACTCCTGACCCCAGTCCTTTATCCTACCTGAATTCTGAGCTCTCCCATTTCCAGGGGGTCACAGCCAAGATTAAAAGCCAAAGTGGCAGGGACAAGCGCCAGTCCGTCAGCGAGGGGCTCTCCCAGCGGTCCAGAGCCGGGTCCCAGTCTATCAGAGAGGTCCCAGCGAGGTTCTAGGACCTGCACCCTAGCCAAGTGCGGCTGTGAAGTGTTCGATGACTCTCTGGCCTGGGCCACCCACACCCATTCGCCCTGGAAGAGGCCAAGGCCACGGAGACAGCTCCGGCTCACCCCTAGTGAATCTCCAGTCCCTCCCAGAACTCCCTGGAGTCGCCGCACTGTGCCAGAAACCGCAAAGGAGGACACCACGGGCGGGGGTGGGGGCCGACTGCTGTCCCCAGACTCTGGACACAGTCTGGCCCGCCCGCGGAGCTCAGTCACAGCCAGCCGAGTCCCTGGGCCCAGCAGCCCTTGCAACGCCGGCCGCGTCTCCAGCACCCGCGGTCCGGGCACTGGGAGGGTCTCTCCGCGCCTCACCAGCAGCGGCCCGACTCGCGGTCCGAGCCCAGGCCCCAGCGAGGTGCCAAGCAGTGCCCAACCTAGCGCCGGGGGCCGCCGCACCGCCCGCGCCCGCACCCAGGCCCCGGAGCCCAGTGCCAGGAGCCGCAGCAGCGCGCGGCTAACCAGTAGCTGCGGCGGCCCGGGACCCTGCTCTTCGGTGCCCGCGTCCGGCCCCTCCAGGGCTGCCACCAGCAGCGCCGGCCCTGCCGGGCTCTCCCCTGCAGGCCTCAGGGCCAGCACCAGGCCCAGCTCCGCCGCCGGCCACGGGCCCCCGGGTGGCAGCAGCACTGCCAACGGGGGTGTCTCGGTCGGAAAGGGCTCCAGGACCCGCAAGACAGCCAGCGCCGTGGTGACAGGACACCAACGAGGAGGGTGAAGGAGCGCAGCTTCCGGAGCCAGAGAGCCAGACGACTAGTGTGCGCGAGGGCCGCTTCCGCTTCCGTCAGGGGAGGCCAGAGGAAAAGGGGAGGGGGGTCGGGTGCCGCGAACTTGCTCTGAGGGGGTTAGCTGCGCCTCGGATTGATCTGCGTCGTGCCTCGATAGGCAGTAACCTTCATCGCTGCGGTTGCGTAGCGTTTACCCATGCGCCATTTGAACTTGTGCTTAAGGGATTTATCTTTGCCTTCTACGGAAGTAATGTTCTCTTAACTATTTTTCCCCGTGGCATGAACGTAACAGTTTATTGACTGATAAATGAACAGTCAGCATGCTCGGGATGACTGGGCCCAGTACTGGGAGCTCTAGGTGAAATGTTTCGGAAGGAGTCCGCTCCTCTGCGGAGCTCCTGCAGCTTCCCCTGTGGAACTGTGAGCACTGAGGTTTGAGGGTTGCAGGAAAGGTTGCAGGAGGGAGTAGCAGGATTAGAAAACTGTCTCACACTTGCTTATAGGTATATAGTGGCTGCTGAGTGAATTACTAGATGTGATTCATACAGCCCTGGAGTGCTTGGTGCCACCACACATGTTCCAGCACATCTGGCACAAAACCCATGTTCCAGGACTTCTTGCCCTGTTCATTGTTCTGTTTGTTTTACTCCCACCAAACTTAAGTTGAAGACAAAACAGCTTTTCTTTCACCCCCCCCCCCCAAATCCTTGCAGATCGGAAACCCATTCACTTTCTATCCTAGAGCGGGGCAGGCAGCAGAGCAGGCAGAAGGAAAGGAGTTCAAGGCTTCTGTCAGCATAACACCAACAGTCGACTTCCTGCGTGTGCTGTTATTTAGATTCCATCCTTCTCTTCACCTCCACTGTTCTGTACAAGACACTCAGCTAGTGGTAGGCCACATTTCCTTTTTTATGGCAACAGGGTCCTACTCTGTCACCCAGGTTGGAGTACAGTGGCACGATCCCCATTCATTGCAGCTTCTACCGTCCCAGGCTCAAGTGATCTCCCACCTCAGCCTCCCGAGTAACTGTAGCCGGGACCACAGGCACACGCCACCATACCCAGCCAATTTTTTTTTTGAGACGGAGTTTCGGTCTTGTTGCCCAGGCCAGAGTGCAATGGCACGATCTCAGCTCACTGCAATCTCCGCTTCCCAGGTTCAAAGAATCTCCTGCCCCAGCCTCCCAAGTAGCTGAGATTACAGGTGTGTGCCACCACACCCAGCTAATGTTGTATTTTCAGTAGAGACGGGGTTTCACCCTGTTGGTCAGGCTGGTCTCGAACTCCTGGCTTCAAGTGAGCCACCTGCTTACGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACTGCGCCTGGACTAATTTTTTATTTTTTGTAGAGACAGAGTTTCTCTGTGTTGCCTAGGCTGGTCTCAAACTCCTGGTCTGAAGAGATCCTCAGGCCTCAGCCTCCCAAAGTGCTGGGACTACAGGCATAAGCCATCATGTCCCACTGCATTTCCAATTATTAACAATTATTTTCACTTACAATAAATGAATTGGATGGTGCCAATCTCCATTTTCTAGACCTTACATTCTCTTTCAGCTACTGCTCAGCTTTCTCCATCTCTCCTTTCTTCTTGAGGCAGTCTTCTATTTTGTACATTATACATTCCTGAAAATTTGAAAGACAAATATATGAAAACTATTAGATTTGCATATTATAAGGGGCTGGGCGCAGTGGCTCATGGCTGTAATCCCAGCACTTTGGGAGGCCAAGTGGGTGGACTGCTTGAGGCCAGGAGTTTGAGACCAGCCTGGCCAACATGGTGAAACCCCGTCTCTACTAAAAATACAAAAATTAGCTGGGTATGGTGGTGTGTGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATGGCGTGAAGCCGGGAGACAGAGCTTGCAGTGAGCCGAGACTGCGCCACTGCACTCCAGCCTGGGTGACAGAGTGAGATTCCGTCTCAAAAAAATAAATAATAGA
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Task1_train_10349
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This variant affects gene PEX6 (peroxisomal biogenesis factor 6) located on Chromosome 6. Evaluate its biological effect and specify any disease association.
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Pathogenic; Peroxisome biogenesis disorder 4A (Zellweger)
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TAATAGGAAACAATTTGAAGTCAAGGATAAGAATGAGCAAAAGCACAGAGACATCATCCTCCATATTATAAAGCACAATACTGAATACATTGTAGCAATTCAATAAACTAATTAGATTGAGTAGATTAACATACACATCTGAAACCTCACTTTTTTTTTTTTTTTTTTTTACACAGAATTTCGCTCTGTCGTCCAGGCTGGAGTGCAGTGGTGTGATCTGGGCTCACTGCAACCTCCACCTCCCAGGTTCAAACAATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGATTACAGGCATGCACCACCACACCCAAACTTCACCTTTCACCTGAATGGATGAAAGCCTTTTGTATGCCCCACTACATTATGGAGGCTTATGATATTTTGATTACAGAATATGGATCAATAGGCCGGGTGAGGTGGCTCACGCCTGTAATCCCAACACTTTGGGTGGATCACCTGAGGTCAGGAGTTCGAGACCAGCCTGACCAATACGGTGAAACCCCGTCTCTACTAAAAATTACAAAAATTAGCCGGGCGTCGTGGCGCGAGCCAGTAGTAGGAGGCTGAGACAGGAGAATCGCTTGAACCTGGGAGGCGGAGGTTGCAGTAAGCCGAGATCGCATCACCACATTCCAGCCTGGGTGACAGAGCAAGACCCCATCTCAAAAAAAAAAAAAAAAAAAAAAAAAGGAAAGAAAGAAAAAGAAAATAGATAAATGAGGCTAAGAAACATTATGCTTTTTTTTTTTTTTTTTTGAGACAGAGTTTCACTCTTATCGCCCAGGCTGGAGTCCAATGGCGCGATCTTGGCTCACCGCAACCTCCGCCTCCCAGGTTCAAGCGATTCTCCTGCTTCAGCCTCCCAAGTAGCTGGGATTAGAGGCATGCACCACCACGCCCGGCTAATTTTACATTTTTTTAGTAGAGACGGGGTTTCTCCATGTTGGTCAGGCTGGTCTCGAACTCCCGACCCCAAGTGATCCGCTCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGTCACCGCGCCCGGCTAGAAACATTATGTTCAAAGTCCGGGATGATATGGGGCACGAGTCCTAAATCTTCCAATTTACCTAAGACAGAGAAGAGGGTATAAGAAAGAGGAAGCACTCCTGACCCCAGTCCTTTATCCTACCTGAATTCTGAGCTCTCCCATTTCCAGGGGGTCACAGCCAAGATTAAAAGCCAAAGTGGCAGGGACAAGCGCCAGTCCGTCAGCGAGGGGCTCTCCCAGCGGTCCAGAGCCGGGTCCCAGTCTATCAGAGAGGTCCCAGCGAGGTTCTAGGACCTGCACCCTAGCCAAGTGCGGCTGTGAAGTGTTCGATGACTCTCTGGCCTGGGCCACCCACACCCATTCGCCCTGGAAGAGGCCAAGGCCACGGAGACAGCTCCGGCTCACCCCTAGTGAATCTCCAGTCCCTCCCAGAACTCCCTGGAGTCGCCGCACTGTGCCAGAAACCGCAAAGGAGGACACCACGGGCGGGGGTGGGGGCCGACTGCTGTCCCCAGACTCTGGACACAGTCTGGCCCGCCCGCGGAGCTCAGTCACAGCCAGCCGAGTCCCTGGGCCCAGCAGCCCTTGCAACGCCGGCCGCGTCTCCAGCACCCGCGGTCCGGGCACTGGGAGGGTCTCTCCGCGCCTCACCAGCAGCGGCCCGACTCGCGGTCCGAGCCCAGGCCCCAGCGAGGTGCCAAGCAGTGCCCAACCTAGCGCCGGGGGCCGCCGCACCGCCCGCGCCCGCACCCAGGCCCCGGAGCCCAGTGCCAGGAGCCGCAGCAGCGCGCGGCTAACCAGTAGCTGCGGCGGCCCGGGACCCTGCTCTTCGGTGCCCGCGTCCGGCCCCTCCAGGGCTGCCACCAGCAGCGCCGGCCCTGCCGGGCTCTCCCCTGCAGGCCTCAGGGCCAGCACCAGGCCCAGCTCCGCCGCCGGCCACGGGCCCCCGGGTGGCAGCAGCACTGCCAACGGGGGTGTCTCGGTCGGAAAGGGCTCCAGGACCCGCAAGACAGCCAGCGCCATGGTGACAGGACACCAACGAGGAGGGTGAAGGAGCGCAGCTTCCGGAGCCAGAGAGCCAGACGACTAGTGTGCGCGAGGGCCGCTTCCGCTTCCGTCAGGGGAGGCCAGAGGAAAAGGGGAGGGGGGTCGGGTGCCGCGAACTTGCTCTGAGGGGGTTAGCTGCGCCTCGGATTGATCTGCGTCGTGCCTCGATAGGCAGTAACCTTCATCGCTGCGGTTGCGTAGCGTTTACCCATGCGCCATTTGAACTTGTGCTTAAGGGATTTATCTTTGCCTTCTACGGAAGTAATGTTCTCTTAACTATTTTTCCCCGTGGCATGAACGTAACAGTTTATTGACTGATAAATGAACAGTCAGCATGCTCGGGATGACTGGGCCCAGTACTGGGAGCTCTAGGTGAAATGTTTCGGAAGGAGTCCGCTCCTCTGCGGAGCTCCTGCAGCTTCCCCTGTGGAACTGTGAGCACTGAGGTTTGAGGGTTGCAGGAAAGGTTGCAGGAGGGAGTAGCAGGATTAGAAAACTGTCTCACACTTGCTTATAGGTATATAGTGGCTGCTGAGTGAATTACTAGATGTGATTCATACAGCCCTGGAGTGCTTGGTGCCACCACACATGTTCCAGCACATCTGGCACAAAACCCATGTTCCAGGACTTCTTGCCCTGTTCATTGTTCTGTTTGTTTTACTCCCACCAAACTTAAGTTGAAGACAAAACAGCTTTTCTTTCACCCCCCCCCCCCAAATCCTTGCAGATCGGAAACCCATTCACTTTCTATCCTAGAGCGGGGCAGGCAGCAGAGCAGGCAGAAGGAAAGGAGTTCAAGGCTTCTGTCAGCATAACACCAACAGTCGACTTCCTGCGTGTGCTGTTATTTAGATTCCATCCTTCTCTTCACCTCCACTGTTCTGTACAAGACACTCAGCTAGTGGTAGGCCACATTTCCTTTTTTATGGCAACAGGGTCCTACTCTGTCACCCAGGTTGGAGTACAGTGGCACGATCCCCATTCATTGCAGCTTCTACCGTCCCAGGCTCAAGTGATCTCCCACCTCAGCCTCCCGAGTAACTGTAGCCGGGACCACAGGCACACGCCACCATACCCAGCCAATTTTTTTTTTGAGACGGAGTTTCGGTCTTGTTGCCCAGGCCAGAGTGCAATGGCACGATCTCAGCTCACTGCAATCTCCGCTTCCCAGGTTCAAAGAATCTCCTGCCCCAGCCTCCCAAGTAGCTGAGATTACAGGTGTGTGCCACCACACCCAGCTAATGTTGTATTTTCAGTAGAGACGGGGTTTCACCCTGTTGGTCAGGCTGGTCTCGAACTCCTGGCTTCAAGTGAGCCACCTGCTTACGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACTGCGCCTGGACTAATTTTTTATTTTTTGTAGAGACAGAGTTTCTCTGTGTTGCCTAGGCTGGTCTCAAACTCCTGGTCTGAAGAGATCCTCAGGCCTCAGCCTCCCAAAGTGCTGGGACTACAGGCATAAGCCATCATGTCCCACTGCATTTCCAATTATTAACAATTATTTTCACTTACAATAAATGAATTGGATGGTGCCAATCTCCATTTTCTAGACCTTACATTCTCTTTCAGCTACTGCTCAGCTTTCTCCATCTCTCCTTTCTTCTTGAGGCAGTCTTCTATTTTGTACATTATACATTCCTGAAAATTTGAAAGACAAATATATGAAAACTATTAGATTTGCATATTATAAGGGGCTGGGCGCAGTGGCTCATGGCTGTAATCCCAGCACTTTGGGAGGCCAAGTGGGTGGACTGCTTGAGGCCAGGAGTTTGAGACCAGCCTGGCCAACATGGTGAAACCCCGTCTCTACTAAAAATACAAAAATTAGCTGGGTATGGTGGTGTGTGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATGGCGTGAAGCCGGGAGACAGAGCTTGCAGTGAGCCGAGACTGCGCCACTGCACTCCAGCCTGGGTGACAGAGTGAGATTCCGTCTCAAAAAAATAAATAATAGAA
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TAATAGGAAACAATTTGAAGTCAAGGATAAGAATGAGCAAAAGCACAGAGACATCATCCTCCATATTATAAAGCACAATACTGAATACATTGTAGCAATTCAATAAACTAATTAGATTGAGTAGATTAACATACACATCTGAAACCTCACTTTTTTTTTTTTTTTTTTTTACACAGAATTTCGCTCTGTCGTCCAGGCTGGAGTGCAGTGGTGTGATCTGGGCTCACTGCAACCTCCACCTCCCAGGTTCAAACAATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGATTACAGGCATGCACCACCACACCCAAACTTCACCTTTCACCTGAATGGATGAAAGCCTTTTGTATGCCCCACTACATTATGGAGGCTTATGATATTTTGATTACAGAATATGGATCAATAGGCCGGGTGAGGTGGCTCACGCCTGTAATCCCAACACTTTGGGTGGATCACCTGAGGTCAGGAGTTCGAGACCAGCCTGACCAATACGGTGAAACCCCGTCTCTACTAAAAATTACAAAAATTAGCCGGGCGTCGTGGCGCGAGCCAGTAGTAGGAGGCTGAGACAGGAGAATCGCTTGAACCTGGGAGGCGGAGGTTGCAGTAAGCCGAGATCGCATCACCACATTCCAGCCTGGGTGACAGAGCAAGACCCCATCTCAAAAAAAAAAAAAAAAAAAAAAAAAGGAAAGAAAGAAAAAGAAAATAGATAAATGAGGCTAAGAAACATTATGCTTTTTTTTTTTTTTTTTTGAGACAGAGTTTCACTCTTATCGCCCAGGCTGGAGTCCAATGGCGCGATCTTGGCTCACCGCAACCTCCGCCTCCCAGGTTCAAGCGATTCTCCTGCTTCAGCCTCCCAAGTAGCTGGGATTAGAGGCATGCACCACCACGCCCGGCTAATTTTACATTTTTTTAGTAGAGACGGGGTTTCTCCATGTTGGTCAGGCTGGTCTCGAACTCCCGACCCCAAGTGATCCGCTCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGTCACCGCGCCCGGCTAGAAACATTATGTTCAAAGTCCGGGATGATATGGGGCACGAGTCCTAAATCTTCCAATTTACCTAAGACAGAGAAGAGGGTATAAGAAAGAGGAAGCACTCCTGACCCCAGTCCTTTATCCTACCTGAATTCTGAGCTCTCCCATTTCCAGGGGGTCACAGCCAAGATTAAAAGCCAAAGTGGCAGGGACAAGCGCCAGTCCGTCAGCGAGGGGCTCTCCCAGCGGTCCAGAGCCGGGTCCCAGTCTATCAGAGAGGTCCCAGCGAGGTTCTAGGACCTGCACCCTAGCCAAGTGCGGCTGTGAAGTGTTCGATGACTCTCTGGCCTGGGCCACCCACACCCATTCGCCCTGGAAGAGGCCAAGGCCACGGAGACAGCTCCGGCTCACCCCTAGTGAATCTCCAGTCCCTCCCAGAACTCCCTGGAGTCGCCGCACTGTGCCAGAAACCGCAAAGGAGGACACCACGGGCGGGGGTGGGGGCCGACTGCTGTCCCCAGACTCTGGACACAGTCTGGCCCGCCCGCGGAGCTCAGTCACAGCCAGCCGAGTCCCTGGGCCCAGCAGCCCTTGCAACGCCGGCCGCGTCTCCAGCACCCGCGGTCCGGGCACTGGGAGGGTCTCTCCGCGCCTCACCAGCAGCGGCCCGACTCGCGGTCCGAGCCCAGGCCCCAGCGAGGTGCCAAGCAGTGCCCAACCTAGCGCCGGGGGCCGCCGCACCGCCCGCGCCCGCACCCAGGCCCCGGAGCCCAGTGCCAGGAGCCGCAGCAGCGCGCGGCTAACCAGTAGCTGCGGCGGCCCGGGACCCTGCTCTTCGGTGCCCGCGTCCGGCCCCTCCAGGGCTGCCACCAGCAGCGCCGGCCCTGCCGGGCTCTCCCCTGCAGGCCTCAGGGCCAGCACCAGGCCCAGCTCCGCCGCCGGCCACGGGCCCCCGGGTGGCAGCAGCACTGCCAACGGGGGTGTCTCGGTCGGAAAGGGCTCCAGGACCCGCAAGACAGCCAGCGCCACGGTGACAGGACACCAACGAGGAGGGTGAAGGAGCGCAGCTTCCGGAGCCAGAGAGCCAGACGACTAGTGTGCGCGAGGGCCGCTTCCGCTTCCGTCAGGGGAGGCCAGAGGAAAAGGGGAGGGGGGTCGGGTGCCGCGAACTTGCTCTGAGGGGGTTAGCTGCGCCTCGGATTGATCTGCGTCGTGCCTCGATAGGCAGTAACCTTCATCGCTGCGGTTGCGTAGCGTTTACCCATGCGCCATTTGAACTTGTGCTTAAGGGATTTATCTTTGCCTTCTACGGAAGTAATGTTCTCTTAACTATTTTTCCCCGTGGCATGAACGTAACAGTTTATTGACTGATAAATGAACAGTCAGCATGCTCGGGATGACTGGGCCCAGTACTGGGAGCTCTAGGTGAAATGTTTCGGAAGGAGTCCGCTCCTCTGCGGAGCTCCTGCAGCTTCCCCTGTGGAACTGTGAGCACTGAGGTTTGAGGGTTGCAGGAAAGGTTGCAGGAGGGAGTAGCAGGATTAGAAAACTGTCTCACACTTGCTTATAGGTATATAGTGGCTGCTGAGTGAATTACTAGATGTGATTCATACAGCCCTGGAGTGCTTGGTGCCACCACACATGTTCCAGCACATCTGGCACAAAACCCATGTTCCAGGACTTCTTGCCCTGTTCATTGTTCTGTTTGTTTTACTCCCACCAAACTTAAGTTGAAGACAAAACAGCTTTTCTTTCACCCCCCCCCCCCAAATCCTTGCAGATCGGAAACCCATTCACTTTCTATCCTAGAGCGGGGCAGGCAGCAGAGCAGGCAGAAGGAAAGGAGTTCAAGGCTTCTGTCAGCATAACACCAACAGTCGACTTCCTGCGTGTGCTGTTATTTAGATTCCATCCTTCTCTTCACCTCCACTGTTCTGTACAAGACACTCAGCTAGTGGTAGGCCACATTTCCTTTTTTATGGCAACAGGGTCCTACTCTGTCACCCAGGTTGGAGTACAGTGGCACGATCCCCATTCATTGCAGCTTCTACCGTCCCAGGCTCAAGTGATCTCCCACCTCAGCCTCCCGAGTAACTGTAGCCGGGACCACAGGCACACGCCACCATACCCAGCCAATTTTTTTTTTGAGACGGAGTTTCGGTCTTGTTGCCCAGGCCAGAGTGCAATGGCACGATCTCAGCTCACTGCAATCTCCGCTTCCCAGGTTCAAAGAATCTCCTGCCCCAGCCTCCCAAGTAGCTGAGATTACAGGTGTGTGCCACCACACCCAGCTAATGTTGTATTTTCAGTAGAGACGGGGTTTCACCCTGTTGGTCAGGCTGGTCTCGAACTCCTGGCTTCAAGTGAGCCACCTGCTTACGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACTGCGCCTGGACTAATTTTTTATTTTTTGTAGAGACAGAGTTTCTCTGTGTTGCCTAGGCTGGTCTCAAACTCCTGGTCTGAAGAGATCCTCAGGCCTCAGCCTCCCAAAGTGCTGGGACTACAGGCATAAGCCATCATGTCCCACTGCATTTCCAATTATTAACAATTATTTTCACTTACAATAAATGAATTGGATGGTGCCAATCTCCATTTTCTAGACCTTACATTCTCTTTCAGCTACTGCTCAGCTTTCTCCATCTCTCCTTTCTTCTTGAGGCAGTCTTCTATTTTGTACATTATACATTCCTGAAAATTTGAAAGACAAATATATGAAAACTATTAGATTTGCATATTATAAGGGGCTGGGCGCAGTGGCTCATGGCTGTAATCCCAGCACTTTGGGAGGCCAAGTGGGTGGACTGCTTGAGGCCAGGAGTTTGAGACCAGCCTGGCCAACATGGTGAAACCCCGTCTCTACTAAAAATACAAAAATTAGCTGGGTATGGTGGTGTGTGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATGGCGTGAAGCCGGGAGACAGAGCTTGCAGTGAGCCGAGACTGCGCCACTGCACTCCAGCCTGGGTGACAGAGTGAGATTCCGTCTCAAAAAAATAAATAATAGAA
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Task1_train_10350
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This variant affects gene PEX6 (peroxisomal biogenesis factor 6) located on Chromosome 6. Evaluate its biological effect and specify any disease association.
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Pathogenic; Peroxisome biogenesis disorder 4B
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TAATAGGAAACAATTTGAAGTCAAGGATAAGAATGAGCAAAAGCACAGAGACATCATCCTCCATATTATAAAGCACAATACTGAATACATTGTAGCAATTCAATAAACTAATTAGATTGAGTAGATTAACATACACATCTGAAACCTCACTTTTTTTTTTTTTTTTTTTTACACAGAATTTCGCTCTGTCGTCCAGGCTGGAGTGCAGTGGTGTGATCTGGGCTCACTGCAACCTCCACCTCCCAGGTTCAAACAATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGATTACAGGCATGCACCACCACACCCAAACTTCACCTTTCACCTGAATGGATGAAAGCCTTTTGTATGCCCCACTACATTATGGAGGCTTATGATATTTTGATTACAGAATATGGATCAATAGGCCGGGTGAGGTGGCTCACGCCTGTAATCCCAACACTTTGGGTGGATCACCTGAGGTCAGGAGTTCGAGACCAGCCTGACCAATACGGTGAAACCCCGTCTCTACTAAAAATTACAAAAATTAGCCGGGCGTCGTGGCGCGAGCCAGTAGTAGGAGGCTGAGACAGGAGAATCGCTTGAACCTGGGAGGCGGAGGTTGCAGTAAGCCGAGATCGCATCACCACATTCCAGCCTGGGTGACAGAGCAAGACCCCATCTCAAAAAAAAAAAAAAAAAAAAAAAAAGGAAAGAAAGAAAAAGAAAATAGATAAATGAGGCTAAGAAACATTATGCTTTTTTTTTTTTTTTTTTGAGACAGAGTTTCACTCTTATCGCCCAGGCTGGAGTCCAATGGCGCGATCTTGGCTCACCGCAACCTCCGCCTCCCAGGTTCAAGCGATTCTCCTGCTTCAGCCTCCCAAGTAGCTGGGATTAGAGGCATGCACCACCACGCCCGGCTAATTTTACATTTTTTTAGTAGAGACGGGGTTTCTCCATGTTGGTCAGGCTGGTCTCGAACTCCCGACCCCAAGTGATCCGCTCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGTCACCGCGCCCGGCTAGAAACATTATGTTCAAAGTCCGGGATGATATGGGGCACGAGTCCTAAATCTTCCAATTTACCTAAGACAGAGAAGAGGGTATAAGAAAGAGGAAGCACTCCTGACCCCAGTCCTTTATCCTACCTGAATTCTGAGCTCTCCCATTTCCAGGGGGTCACAGCCAAGATTAAAAGCCAAAGTGGCAGGGACAAGCGCCAGTCCGTCAGCGAGGGGCTCTCCCAGCGGTCCAGAGCCGGGTCCCAGTCTATCAGAGAGGTCCCAGCGAGGTTCTAGGACCTGCACCCTAGCCAAGTGCGGCTGTGAAGTGTTCGATGACTCTCTGGCCTGGGCCACCCACACCCATTCGCCCTGGAAGAGGCCAAGGCCACGGAGACAGCTCCGGCTCACCCCTAGTGAATCTCCAGTCCCTCCCAGAACTCCCTGGAGTCGCCGCACTGTGCCAGAAACCGCAAAGGAGGACACCACGGGCGGGGGTGGGGGCCGACTGCTGTCCCCAGACTCTGGACACAGTCTGGCCCGCCCGCGGAGCTCAGTCACAGCCAGCCGAGTCCCTGGGCCCAGCAGCCCTTGCAACGCCGGCCGCGTCTCCAGCACCCGCGGTCCGGGCACTGGGAGGGTCTCTCCGCGCCTCACCAGCAGCGGCCCGACTCGCGGTCCGAGCCCAGGCCCCAGCGAGGTGCCAAGCAGTGCCCAACCTAGCGCCGGGGGCCGCCGCACCGCCCGCGCCCGCACCCAGGCCCCGGAGCCCAGTGCCAGGAGCCGCAGCAGCGCGCGGCTAACCAGTAGCTGCGGCGGCCCGGGACCCTGCTCTTCGGTGCCCGCGTCCGGCCCCTCCAGGGCTGCCACCAGCAGCGCCGGCCCTGCCGGGCTCTCCCCTGCAGGCCTCAGGGCCAGCACCAGGCCCAGCTCCGCCGCCGGCCACGGGCCCCCGGGTGGCAGCAGCACTGCCAACGGGGGTGTCTCGGTCGGAAAGGGCTCCAGGACCCGCAAGACAGCCAGCGCCATGGTGACAGGACACCAACGAGGAGGGTGAAGGAGCGCAGCTTCCGGAGCCAGAGAGCCAGACGACTAGTGTGCGCGAGGGCCGCTTCCGCTTCCGTCAGGGGAGGCCAGAGGAAAAGGGGAGGGGGGTCGGGTGCCGCGAACTTGCTCTGAGGGGGTTAGCTGCGCCTCGGATTGATCTGCGTCGTGCCTCGATAGGCAGTAACCTTCATCGCTGCGGTTGCGTAGCGTTTACCCATGCGCCATTTGAACTTGTGCTTAAGGGATTTATCTTTGCCTTCTACGGAAGTAATGTTCTCTTAACTATTTTTCCCCGTGGCATGAACGTAACAGTTTATTGACTGATAAATGAACAGTCAGCATGCTCGGGATGACTGGGCCCAGTACTGGGAGCTCTAGGTGAAATGTTTCGGAAGGAGTCCGCTCCTCTGCGGAGCTCCTGCAGCTTCCCCTGTGGAACTGTGAGCACTGAGGTTTGAGGGTTGCAGGAAAGGTTGCAGGAGGGAGTAGCAGGATTAGAAAACTGTCTCACACTTGCTTATAGGTATATAGTGGCTGCTGAGTGAATTACTAGATGTGATTCATACAGCCCTGGAGTGCTTGGTGCCACCACACATGTTCCAGCACATCTGGCACAAAACCCATGTTCCAGGACTTCTTGCCCTGTTCATTGTTCTGTTTGTTTTACTCCCACCAAACTTAAGTTGAAGACAAAACAGCTTTTCTTTCACCCCCCCCCCCCAAATCCTTGCAGATCGGAAACCCATTCACTTTCTATCCTAGAGCGGGGCAGGCAGCAGAGCAGGCAGAAGGAAAGGAGTTCAAGGCTTCTGTCAGCATAACACCAACAGTCGACTTCCTGCGTGTGCTGTTATTTAGATTCCATCCTTCTCTTCACCTCCACTGTTCTGTACAAGACACTCAGCTAGTGGTAGGCCACATTTCCTTTTTTATGGCAACAGGGTCCTACTCTGTCACCCAGGTTGGAGTACAGTGGCACGATCCCCATTCATTGCAGCTTCTACCGTCCCAGGCTCAAGTGATCTCCCACCTCAGCCTCCCGAGTAACTGTAGCCGGGACCACAGGCACACGCCACCATACCCAGCCAATTTTTTTTTTGAGACGGAGTTTCGGTCTTGTTGCCCAGGCCAGAGTGCAATGGCACGATCTCAGCTCACTGCAATCTCCGCTTCCCAGGTTCAAAGAATCTCCTGCCCCAGCCTCCCAAGTAGCTGAGATTACAGGTGTGTGCCACCACACCCAGCTAATGTTGTATTTTCAGTAGAGACGGGGTTTCACCCTGTTGGTCAGGCTGGTCTCGAACTCCTGGCTTCAAGTGAGCCACCTGCTTACGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACTGCGCCTGGACTAATTTTTTATTTTTTGTAGAGACAGAGTTTCTCTGTGTTGCCTAGGCTGGTCTCAAACTCCTGGTCTGAAGAGATCCTCAGGCCTCAGCCTCCCAAAGTGCTGGGACTACAGGCATAAGCCATCATGTCCCACTGCATTTCCAATTATTAACAATTATTTTCACTTACAATAAATGAATTGGATGGTGCCAATCTCCATTTTCTAGACCTTACATTCTCTTTCAGCTACTGCTCAGCTTTCTCCATCTCTCCTTTCTTCTTGAGGCAGTCTTCTATTTTGTACATTATACATTCCTGAAAATTTGAAAGACAAATATATGAAAACTATTAGATTTGCATATTATAAGGGGCTGGGCGCAGTGGCTCATGGCTGTAATCCCAGCACTTTGGGAGGCCAAGTGGGTGGACTGCTTGAGGCCAGGAGTTTGAGACCAGCCTGGCCAACATGGTGAAACCCCGTCTCTACTAAAAATACAAAAATTAGCTGGGTATGGTGGTGTGTGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATGGCGTGAAGCCGGGAGACAGAGCTTGCAGTGAGCCGAGACTGCGCCACTGCACTCCAGCCTGGGTGACAGAGTGAGATTCCGTCTCAAAAAAATAAATAATAGAA
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TAATAGGAAACAATTTGAAGTCAAGGATAAGAATGAGCAAAAGCACAGAGACATCATCCTCCATATTATAAAGCACAATACTGAATACATTGTAGCAATTCAATAAACTAATTAGATTGAGTAGATTAACATACACATCTGAAACCTCACTTTTTTTTTTTTTTTTTTTTACACAGAATTTCGCTCTGTCGTCCAGGCTGGAGTGCAGTGGTGTGATCTGGGCTCACTGCAACCTCCACCTCCCAGGTTCAAACAATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGATTACAGGCATGCACCACCACACCCAAACTTCACCTTTCACCTGAATGGATGAAAGCCTTTTGTATGCCCCACTACATTATGGAGGCTTATGATATTTTGATTACAGAATATGGATCAATAGGCCGGGTGAGGTGGCTCACGCCTGTAATCCCAACACTTTGGGTGGATCACCTGAGGTCAGGAGTTCGAGACCAGCCTGACCAATACGGTGAAACCCCGTCTCTACTAAAAATTACAAAAATTAGCCGGGCGTCGTGGCGCGAGCCAGTAGTAGGAGGCTGAGACAGGAGAATCGCTTGAACCTGGGAGGCGGAGGTTGCAGTAAGCCGAGATCGCATCACCACATTCCAGCCTGGGTGACAGAGCAAGACCCCATCTCAAAAAAAAAAAAAAAAAAAAAAAAAGGAAAGAAAGAAAAAGAAAATAGATAAATGAGGCTAAGAAACATTATGCTTTTTTTTTTTTTTTTTTGAGACAGAGTTTCACTCTTATCGCCCAGGCTGGAGTCCAATGGCGCGATCTTGGCTCACCGCAACCTCCGCCTCCCAGGTTCAAGCGATTCTCCTGCTTCAGCCTCCCAAGTAGCTGGGATTAGAGGCATGCACCACCACGCCCGGCTAATTTTACATTTTTTTAGTAGAGACGGGGTTTCTCCATGTTGGTCAGGCTGGTCTCGAACTCCCGACCCCAAGTGATCCGCTCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGTCACCGCGCCCGGCTAGAAACATTATGTTCAAAGTCCGGGATGATATGGGGCACGAGTCCTAAATCTTCCAATTTACCTAAGACAGAGAAGAGGGTATAAGAAAGAGGAAGCACTCCTGACCCCAGTCCTTTATCCTACCTGAATTCTGAGCTCTCCCATTTCCAGGGGGTCACAGCCAAGATTAAAAGCCAAAGTGGCAGGGACAAGCGCCAGTCCGTCAGCGAGGGGCTCTCCCAGCGGTCCAGAGCCGGGTCCCAGTCTATCAGAGAGGTCCCAGCGAGGTTCTAGGACCTGCACCCTAGCCAAGTGCGGCTGTGAAGTGTTCGATGACTCTCTGGCCTGGGCCACCCACACCCATTCGCCCTGGAAGAGGCCAAGGCCACGGAGACAGCTCCGGCTCACCCCTAGTGAATCTCCAGTCCCTCCCAGAACTCCCTGGAGTCGCCGCACTGTGCCAGAAACCGCAAAGGAGGACACCACGGGCGGGGGTGGGGGCCGACTGCTGTCCCCAGACTCTGGACACAGTCTGGCCCGCCCGCGGAGCTCAGTCACAGCCAGCCGAGTCCCTGGGCCCAGCAGCCCTTGCAACGCCGGCCGCGTCTCCAGCACCCGCGGTCCGGGCACTGGGAGGGTCTCTCCGCGCCTCACCAGCAGCGGCCCGACTCGCGGTCCGAGCCCAGGCCCCAGCGAGGTGCCAAGCAGTGCCCAACCTAGCGCCGGGGGCCGCCGCACCGCCCGCGCCCGCACCCAGGCCCCGGAGCCCAGTGCCAGGAGCCGCAGCAGCGCGCGGCTAACCAGTAGCTGCGGCGGCCCGGGACCCTGCTCTTCGGTGCCCGCGTCCGGCCCCTCCAGGGCTGCCACCAGCAGCGCCGGCCCTGCCGGGCTCTCCCCTGCAGGCCTCAGGGCCAGCACCAGGCCCAGCTCCGCCGCCGGCCACGGGCCCCCGGGTGGCAGCAGCACTGCCAACGGGGGTGTCTCGGTCGGAAAGGGCTCCAGGACCCGCAAGACAGCCAGCGCCACGGTGACAGGACACCAACGAGGAGGGTGAAGGAGCGCAGCTTCCGGAGCCAGAGAGCCAGACGACTAGTGTGCGCGAGGGCCGCTTCCGCTTCCGTCAGGGGAGGCCAGAGGAAAAGGGGAGGGGGGTCGGGTGCCGCGAACTTGCTCTGAGGGGGTTAGCTGCGCCTCGGATTGATCTGCGTCGTGCCTCGATAGGCAGTAACCTTCATCGCTGCGGTTGCGTAGCGTTTACCCATGCGCCATTTGAACTTGTGCTTAAGGGATTTATCTTTGCCTTCTACGGAAGTAATGTTCTCTTAACTATTTTTCCCCGTGGCATGAACGTAACAGTTTATTGACTGATAAATGAACAGTCAGCATGCTCGGGATGACTGGGCCCAGTACTGGGAGCTCTAGGTGAAATGTTTCGGAAGGAGTCCGCTCCTCTGCGGAGCTCCTGCAGCTTCCCCTGTGGAACTGTGAGCACTGAGGTTTGAGGGTTGCAGGAAAGGTTGCAGGAGGGAGTAGCAGGATTAGAAAACTGTCTCACACTTGCTTATAGGTATATAGTGGCTGCTGAGTGAATTACTAGATGTGATTCATACAGCCCTGGAGTGCTTGGTGCCACCACACATGTTCCAGCACATCTGGCACAAAACCCATGTTCCAGGACTTCTTGCCCTGTTCATTGTTCTGTTTGTTTTACTCCCACCAAACTTAAGTTGAAGACAAAACAGCTTTTCTTTCACCCCCCCCCCCCAAATCCTTGCAGATCGGAAACCCATTCACTTTCTATCCTAGAGCGGGGCAGGCAGCAGAGCAGGCAGAAGGAAAGGAGTTCAAGGCTTCTGTCAGCATAACACCAACAGTCGACTTCCTGCGTGTGCTGTTATTTAGATTCCATCCTTCTCTTCACCTCCACTGTTCTGTACAAGACACTCAGCTAGTGGTAGGCCACATTTCCTTTTTTATGGCAACAGGGTCCTACTCTGTCACCCAGGTTGGAGTACAGTGGCACGATCCCCATTCATTGCAGCTTCTACCGTCCCAGGCTCAAGTGATCTCCCACCTCAGCCTCCCGAGTAACTGTAGCCGGGACCACAGGCACACGCCACCATACCCAGCCAATTTTTTTTTTGAGACGGAGTTTCGGTCTTGTTGCCCAGGCCAGAGTGCAATGGCACGATCTCAGCTCACTGCAATCTCCGCTTCCCAGGTTCAAAGAATCTCCTGCCCCAGCCTCCCAAGTAGCTGAGATTACAGGTGTGTGCCACCACACCCAGCTAATGTTGTATTTTCAGTAGAGACGGGGTTTCACCCTGTTGGTCAGGCTGGTCTCGAACTCCTGGCTTCAAGTGAGCCACCTGCTTACGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACTGCGCCTGGACTAATTTTTTATTTTTTGTAGAGACAGAGTTTCTCTGTGTTGCCTAGGCTGGTCTCAAACTCCTGGTCTGAAGAGATCCTCAGGCCTCAGCCTCCCAAAGTGCTGGGACTACAGGCATAAGCCATCATGTCCCACTGCATTTCCAATTATTAACAATTATTTTCACTTACAATAAATGAATTGGATGGTGCCAATCTCCATTTTCTAGACCTTACATTCTCTTTCAGCTACTGCTCAGCTTTCTCCATCTCTCCTTTCTTCTTGAGGCAGTCTTCTATTTTGTACATTATACATTCCTGAAAATTTGAAAGACAAATATATGAAAACTATTAGATTTGCATATTATAAGGGGCTGGGCGCAGTGGCTCATGGCTGTAATCCCAGCACTTTGGGAGGCCAAGTGGGTGGACTGCTTGAGGCCAGGAGTTTGAGACCAGCCTGGCCAACATGGTGAAACCCCGTCTCTACTAAAAATACAAAAATTAGCTGGGTATGGTGGTGTGTGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATGGCGTGAAGCCGGGAGACAGAGCTTGCAGTGAGCCGAGACTGCGCCACTGCACTCCAGCCTGGGTGACAGAGTGAGATTCCGTCTCAAAAAAATAAATAATAGAA
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Task1_train_10351
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This sequence change occurs on Chromosome 6, altering PEX6 (peroxisomal biogenesis factor 6). What is the medical significance of this variant — is it benign or linked to a disease?
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Pathogenic; Heimler syndrome 2
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TAATAGGAAACAATTTGAAGTCAAGGATAAGAATGAGCAAAAGCACAGAGACATCATCCTCCATATTATAAAGCACAATACTGAATACATTGTAGCAATTCAATAAACTAATTAGATTGAGTAGATTAACATACACATCTGAAACCTCACTTTTTTTTTTTTTTTTTTTTACACAGAATTTCGCTCTGTCGTCCAGGCTGGAGTGCAGTGGTGTGATCTGGGCTCACTGCAACCTCCACCTCCCAGGTTCAAACAATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGATTACAGGCATGCACCACCACACCCAAACTTCACCTTTCACCTGAATGGATGAAAGCCTTTTGTATGCCCCACTACATTATGGAGGCTTATGATATTTTGATTACAGAATATGGATCAATAGGCCGGGTGAGGTGGCTCACGCCTGTAATCCCAACACTTTGGGTGGATCACCTGAGGTCAGGAGTTCGAGACCAGCCTGACCAATACGGTGAAACCCCGTCTCTACTAAAAATTACAAAAATTAGCCGGGCGTCGTGGCGCGAGCCAGTAGTAGGAGGCTGAGACAGGAGAATCGCTTGAACCTGGGAGGCGGAGGTTGCAGTAAGCCGAGATCGCATCACCACATTCCAGCCTGGGTGACAGAGCAAGACCCCATCTCAAAAAAAAAAAAAAAAAAAAAAAAAGGAAAGAAAGAAAAAGAAAATAGATAAATGAGGCTAAGAAACATTATGCTTTTTTTTTTTTTTTTTTGAGACAGAGTTTCACTCTTATCGCCCAGGCTGGAGTCCAATGGCGCGATCTTGGCTCACCGCAACCTCCGCCTCCCAGGTTCAAGCGATTCTCCTGCTTCAGCCTCCCAAGTAGCTGGGATTAGAGGCATGCACCACCACGCCCGGCTAATTTTACATTTTTTTAGTAGAGACGGGGTTTCTCCATGTTGGTCAGGCTGGTCTCGAACTCCCGACCCCAAGTGATCCGCTCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGTCACCGCGCCCGGCTAGAAACATTATGTTCAAAGTCCGGGATGATATGGGGCACGAGTCCTAAATCTTCCAATTTACCTAAGACAGAGAAGAGGGTATAAGAAAGAGGAAGCACTCCTGACCCCAGTCCTTTATCCTACCTGAATTCTGAGCTCTCCCATTTCCAGGGGGTCACAGCCAAGATTAAAAGCCAAAGTGGCAGGGACAAGCGCCAGTCCGTCAGCGAGGGGCTCTCCCAGCGGTCCAGAGCCGGGTCCCAGTCTATCAGAGAGGTCCCAGCGAGGTTCTAGGACCTGCACCCTAGCCAAGTGCGGCTGTGAAGTGTTCGATGACTCTCTGGCCTGGGCCACCCACACCCATTCGCCCTGGAAGAGGCCAAGGCCACGGAGACAGCTCCGGCTCACCCCTAGTGAATCTCCAGTCCCTCCCAGAACTCCCTGGAGTCGCCGCACTGTGCCAGAAACCGCAAAGGAGGACACCACGGGCGGGGGTGGGGGCCGACTGCTGTCCCCAGACTCTGGACACAGTCTGGCCCGCCCGCGGAGCTCAGTCACAGCCAGCCGAGTCCCTGGGCCCAGCAGCCCTTGCAACGCCGGCCGCGTCTCCAGCACCCGCGGTCCGGGCACTGGGAGGGTCTCTCCGCGCCTCACCAGCAGCGGCCCGACTCGCGGTCCGAGCCCAGGCCCCAGCGAGGTGCCAAGCAGTGCCCAACCTAGCGCCGGGGGCCGCCGCACCGCCCGCGCCCGCACCCAGGCCCCGGAGCCCAGTGCCAGGAGCCGCAGCAGCGCGCGGCTAACCAGTAGCTGCGGCGGCCCGGGACCCTGCTCTTCGGTGCCCGCGTCCGGCCCCTCCAGGGCTGCCACCAGCAGCGCCGGCCCTGCCGGGCTCTCCCCTGCAGGCCTCAGGGCCAGCACCAGGCCCAGCTCCGCCGCCGGCCACGGGCCCCCGGGTGGCAGCAGCACTGCCAACGGGGGTGTCTCGGTCGGAAAGGGCTCCAGGACCCGCAAGACAGCCAGCGCCATGGTGACAGGACACCAACGAGGAGGGTGAAGGAGCGCAGCTTCCGGAGCCAGAGAGCCAGACGACTAGTGTGCGCGAGGGCCGCTTCCGCTTCCGTCAGGGGAGGCCAGAGGAAAAGGGGAGGGGGGTCGGGTGCCGCGAACTTGCTCTGAGGGGGTTAGCTGCGCCTCGGATTGATCTGCGTCGTGCCTCGATAGGCAGTAACCTTCATCGCTGCGGTTGCGTAGCGTTTACCCATGCGCCATTTGAACTTGTGCTTAAGGGATTTATCTTTGCCTTCTACGGAAGTAATGTTCTCTTAACTATTTTTCCCCGTGGCATGAACGTAACAGTTTATTGACTGATAAATGAACAGTCAGCATGCTCGGGATGACTGGGCCCAGTACTGGGAGCTCTAGGTGAAATGTTTCGGAAGGAGTCCGCTCCTCTGCGGAGCTCCTGCAGCTTCCCCTGTGGAACTGTGAGCACTGAGGTTTGAGGGTTGCAGGAAAGGTTGCAGGAGGGAGTAGCAGGATTAGAAAACTGTCTCACACTTGCTTATAGGTATATAGTGGCTGCTGAGTGAATTACTAGATGTGATTCATACAGCCCTGGAGTGCTTGGTGCCACCACACATGTTCCAGCACATCTGGCACAAAACCCATGTTCCAGGACTTCTTGCCCTGTTCATTGTTCTGTTTGTTTTACTCCCACCAAACTTAAGTTGAAGACAAAACAGCTTTTCTTTCACCCCCCCCCCCCAAATCCTTGCAGATCGGAAACCCATTCACTTTCTATCCTAGAGCGGGGCAGGCAGCAGAGCAGGCAGAAGGAAAGGAGTTCAAGGCTTCTGTCAGCATAACACCAACAGTCGACTTCCTGCGTGTGCTGTTATTTAGATTCCATCCTTCTCTTCACCTCCACTGTTCTGTACAAGACACTCAGCTAGTGGTAGGCCACATTTCCTTTTTTATGGCAACAGGGTCCTACTCTGTCACCCAGGTTGGAGTACAGTGGCACGATCCCCATTCATTGCAGCTTCTACCGTCCCAGGCTCAAGTGATCTCCCACCTCAGCCTCCCGAGTAACTGTAGCCGGGACCACAGGCACACGCCACCATACCCAGCCAATTTTTTTTTTGAGACGGAGTTTCGGTCTTGTTGCCCAGGCCAGAGTGCAATGGCACGATCTCAGCTCACTGCAATCTCCGCTTCCCAGGTTCAAAGAATCTCCTGCCCCAGCCTCCCAAGTAGCTGAGATTACAGGTGTGTGCCACCACACCCAGCTAATGTTGTATTTTCAGTAGAGACGGGGTTTCACCCTGTTGGTCAGGCTGGTCTCGAACTCCTGGCTTCAAGTGAGCCACCTGCTTACGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACTGCGCCTGGACTAATTTTTTATTTTTTGTAGAGACAGAGTTTCTCTGTGTTGCCTAGGCTGGTCTCAAACTCCTGGTCTGAAGAGATCCTCAGGCCTCAGCCTCCCAAAGTGCTGGGACTACAGGCATAAGCCATCATGTCCCACTGCATTTCCAATTATTAACAATTATTTTCACTTACAATAAATGAATTGGATGGTGCCAATCTCCATTTTCTAGACCTTACATTCTCTTTCAGCTACTGCTCAGCTTTCTCCATCTCTCCTTTCTTCTTGAGGCAGTCTTCTATTTTGTACATTATACATTCCTGAAAATTTGAAAGACAAATATATGAAAACTATTAGATTTGCATATTATAAGGGGCTGGGCGCAGTGGCTCATGGCTGTAATCCCAGCACTTTGGGAGGCCAAGTGGGTGGACTGCTTGAGGCCAGGAGTTTGAGACCAGCCTGGCCAACATGGTGAAACCCCGTCTCTACTAAAAATACAAAAATTAGCTGGGTATGGTGGTGTGTGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATGGCGTGAAGCCGGGAGACAGAGCTTGCAGTGAGCCGAGACTGCGCCACTGCACTCCAGCCTGGGTGACAGAGTGAGATTCCGTCTCAAAAAAATAAATAATAGAA
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TAATAGGAAACAATTTGAAGTCAAGGATAAGAATGAGCAAAAGCACAGAGACATCATCCTCCATATTATAAAGCACAATACTGAATACATTGTAGCAATTCAATAAACTAATTAGATTGAGTAGATTAACATACACATCTGAAACCTCACTTTTTTTTTTTTTTTTTTTTACACAGAATTTCGCTCTGTCGTCCAGGCTGGAGTGCAGTGGTGTGATCTGGGCTCACTGCAACCTCCACCTCCCAGGTTCAAACAATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGATTACAGGCATGCACCACCACACCCAAACTTCACCTTTCACCTGAATGGATGAAAGCCTTTTGTATGCCCCACTACATTATGGAGGCTTATGATATTTTGATTACAGAATATGGATCAATAGGCCGGGTGAGGTGGCTCACGCCTGTAATCCCAACACTTTGGGTGGATCACCTGAGGTCAGGAGTTCGAGACCAGCCTGACCAATACGGTGAAACCCCGTCTCTACTAAAAATTACAAAAATTAGCCGGGCGTCGTGGCGCGAGCCAGTAGTAGGAGGCTGAGACAGGAGAATCGCTTGAACCTGGGAGGCGGAGGTTGCAGTAAGCCGAGATCGCATCACCACATTCCAGCCTGGGTGACAGAGCAAGACCCCATCTCAAAAAAAAAAAAAAAAAAAAAAAAAGGAAAGAAAGAAAAAGAAAATAGATAAATGAGGCTAAGAAACATTATGCTTTTTTTTTTTTTTTTTTGAGACAGAGTTTCACTCTTATCGCCCAGGCTGGAGTCCAATGGCGCGATCTTGGCTCACCGCAACCTCCGCCTCCCAGGTTCAAGCGATTCTCCTGCTTCAGCCTCCCAAGTAGCTGGGATTAGAGGCATGCACCACCACGCCCGGCTAATTTTACATTTTTTTAGTAGAGACGGGGTTTCTCCATGTTGGTCAGGCTGGTCTCGAACTCCCGACCCCAAGTGATCCGCTCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGTCACCGCGCCCGGCTAGAAACATTATGTTCAAAGTCCGGGATGATATGGGGCACGAGTCCTAAATCTTCCAATTTACCTAAGACAGAGAAGAGGGTATAAGAAAGAGGAAGCACTCCTGACCCCAGTCCTTTATCCTACCTGAATTCTGAGCTCTCCCATTTCCAGGGGGTCACAGCCAAGATTAAAAGCCAAAGTGGCAGGGACAAGCGCCAGTCCGTCAGCGAGGGGCTCTCCCAGCGGTCCAGAGCCGGGTCCCAGTCTATCAGAGAGGTCCCAGCGAGGTTCTAGGACCTGCACCCTAGCCAAGTGCGGCTGTGAAGTGTTCGATGACTCTCTGGCCTGGGCCACCCACACCCATTCGCCCTGGAAGAGGCCAAGGCCACGGAGACAGCTCCGGCTCACCCCTAGTGAATCTCCAGTCCCTCCCAGAACTCCCTGGAGTCGCCGCACTGTGCCAGAAACCGCAAAGGAGGACACCACGGGCGGGGGTGGGGGCCGACTGCTGTCCCCAGACTCTGGACACAGTCTGGCCCGCCCGCGGAGCTCAGTCACAGCCAGCCGAGTCCCTGGGCCCAGCAGCCCTTGCAACGCCGGCCGCGTCTCCAGCACCCGCGGTCCGGGCACTGGGAGGGTCTCTCCGCGCCTCACCAGCAGCGGCCCGACTCGCGGTCCGAGCCCAGGCCCCAGCGAGGTGCCAAGCAGTGCCCAACCTAGCGCCGGGGGCCGCCGCACCGCCCGCGCCCGCACCCAGGCCCCGGAGCCCAGTGCCAGGAGCCGCAGCAGCGCGCGGCTAACCAGTAGCTGCGGCGGCCCGGGACCCTGCTCTTCGGTGCCCGCGTCCGGCCCCTCCAGGGCTGCCACCAGCAGCGCCGGCCCTGCCGGGCTCTCCCCTGCAGGCCTCAGGGCCAGCACCAGGCCCAGCTCCGCCGCCGGCCACGGGCCCCCGGGTGGCAGCAGCACTGCCAACGGGGGTGTCTCGGTCGGAAAGGGCTCCAGGACCCGCAAGACAGCCAGCGCCACGGTGACAGGACACCAACGAGGAGGGTGAAGGAGCGCAGCTTCCGGAGCCAGAGAGCCAGACGACTAGTGTGCGCGAGGGCCGCTTCCGCTTCCGTCAGGGGAGGCCAGAGGAAAAGGGGAGGGGGGTCGGGTGCCGCGAACTTGCTCTGAGGGGGTTAGCTGCGCCTCGGATTGATCTGCGTCGTGCCTCGATAGGCAGTAACCTTCATCGCTGCGGTTGCGTAGCGTTTACCCATGCGCCATTTGAACTTGTGCTTAAGGGATTTATCTTTGCCTTCTACGGAAGTAATGTTCTCTTAACTATTTTTCCCCGTGGCATGAACGTAACAGTTTATTGACTGATAAATGAACAGTCAGCATGCTCGGGATGACTGGGCCCAGTACTGGGAGCTCTAGGTGAAATGTTTCGGAAGGAGTCCGCTCCTCTGCGGAGCTCCTGCAGCTTCCCCTGTGGAACTGTGAGCACTGAGGTTTGAGGGTTGCAGGAAAGGTTGCAGGAGGGAGTAGCAGGATTAGAAAACTGTCTCACACTTGCTTATAGGTATATAGTGGCTGCTGAGTGAATTACTAGATGTGATTCATACAGCCCTGGAGTGCTTGGTGCCACCACACATGTTCCAGCACATCTGGCACAAAACCCATGTTCCAGGACTTCTTGCCCTGTTCATTGTTCTGTTTGTTTTACTCCCACCAAACTTAAGTTGAAGACAAAACAGCTTTTCTTTCACCCCCCCCCCCCAAATCCTTGCAGATCGGAAACCCATTCACTTTCTATCCTAGAGCGGGGCAGGCAGCAGAGCAGGCAGAAGGAAAGGAGTTCAAGGCTTCTGTCAGCATAACACCAACAGTCGACTTCCTGCGTGTGCTGTTATTTAGATTCCATCCTTCTCTTCACCTCCACTGTTCTGTACAAGACACTCAGCTAGTGGTAGGCCACATTTCCTTTTTTATGGCAACAGGGTCCTACTCTGTCACCCAGGTTGGAGTACAGTGGCACGATCCCCATTCATTGCAGCTTCTACCGTCCCAGGCTCAAGTGATCTCCCACCTCAGCCTCCCGAGTAACTGTAGCCGGGACCACAGGCACACGCCACCATACCCAGCCAATTTTTTTTTTGAGACGGAGTTTCGGTCTTGTTGCCCAGGCCAGAGTGCAATGGCACGATCTCAGCTCACTGCAATCTCCGCTTCCCAGGTTCAAAGAATCTCCTGCCCCAGCCTCCCAAGTAGCTGAGATTACAGGTGTGTGCCACCACACCCAGCTAATGTTGTATTTTCAGTAGAGACGGGGTTTCACCCTGTTGGTCAGGCTGGTCTCGAACTCCTGGCTTCAAGTGAGCCACCTGCTTACGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACTGCGCCTGGACTAATTTTTTATTTTTTGTAGAGACAGAGTTTCTCTGTGTTGCCTAGGCTGGTCTCAAACTCCTGGTCTGAAGAGATCCTCAGGCCTCAGCCTCCCAAAGTGCTGGGACTACAGGCATAAGCCATCATGTCCCACTGCATTTCCAATTATTAACAATTATTTTCACTTACAATAAATGAATTGGATGGTGCCAATCTCCATTTTCTAGACCTTACATTCTCTTTCAGCTACTGCTCAGCTTTCTCCATCTCTCCTTTCTTCTTGAGGCAGTCTTCTATTTTGTACATTATACATTCCTGAAAATTTGAAAGACAAATATATGAAAACTATTAGATTTGCATATTATAAGGGGCTGGGCGCAGTGGCTCATGGCTGTAATCCCAGCACTTTGGGAGGCCAAGTGGGTGGACTGCTTGAGGCCAGGAGTTTGAGACCAGCCTGGCCAACATGGTGAAACCCCGTCTCTACTAAAAATACAAAAATTAGCTGGGTATGGTGGTGTGTGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATGGCGTGAAGCCGGGAGACAGAGCTTGCAGTGAGCCGAGACTGCGCCACTGCACTCCAGCCTGGGTGACAGAGTGAGATTCCGTCTCAAAAAAATAAATAATAGAA
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Task1_train_10352
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This variant affects gene PEX6 (peroxisomal biogenesis factor 6) located on Chromosome 6. Evaluate its biological effect and specify any disease association.
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Pathogenic; Peroxisome biogenesis disorder
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TAATAGGAAACAATTTGAAGTCAAGGATAAGAATGAGCAAAAGCACAGAGACATCATCCTCCATATTATAAAGCACAATACTGAATACATTGTAGCAATTCAATAAACTAATTAGATTGAGTAGATTAACATACACATCTGAAACCTCACTTTTTTTTTTTTTTTTTTTTACACAGAATTTCGCTCTGTCGTCCAGGCTGGAGTGCAGTGGTGTGATCTGGGCTCACTGCAACCTCCACCTCCCAGGTTCAAACAATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGATTACAGGCATGCACCACCACACCCAAACTTCACCTTTCACCTGAATGGATGAAAGCCTTTTGTATGCCCCACTACATTATGGAGGCTTATGATATTTTGATTACAGAATATGGATCAATAGGCCGGGTGAGGTGGCTCACGCCTGTAATCCCAACACTTTGGGTGGATCACCTGAGGTCAGGAGTTCGAGACCAGCCTGACCAATACGGTGAAACCCCGTCTCTACTAAAAATTACAAAAATTAGCCGGGCGTCGTGGCGCGAGCCAGTAGTAGGAGGCTGAGACAGGAGAATCGCTTGAACCTGGGAGGCGGAGGTTGCAGTAAGCCGAGATCGCATCACCACATTCCAGCCTGGGTGACAGAGCAAGACCCCATCTCAAAAAAAAAAAAAAAAAAAAAAAAAGGAAAGAAAGAAAAAGAAAATAGATAAATGAGGCTAAGAAACATTATGCTTTTTTTTTTTTTTTTTTGAGACAGAGTTTCACTCTTATCGCCCAGGCTGGAGTCCAATGGCGCGATCTTGGCTCACCGCAACCTCCGCCTCCCAGGTTCAAGCGATTCTCCTGCTTCAGCCTCCCAAGTAGCTGGGATTAGAGGCATGCACCACCACGCCCGGCTAATTTTACATTTTTTTAGTAGAGACGGGGTTTCTCCATGTTGGTCAGGCTGGTCTCGAACTCCCGACCCCAAGTGATCCGCTCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGTCACCGCGCCCGGCTAGAAACATTATGTTCAAAGTCCGGGATGATATGGGGCACGAGTCCTAAATCTTCCAATTTACCTAAGACAGAGAAGAGGGTATAAGAAAGAGGAAGCACTCCTGACCCCAGTCCTTTATCCTACCTGAATTCTGAGCTCTCCCATTTCCAGGGGGTCACAGCCAAGATTAAAAGCCAAAGTGGCAGGGACAAGCGCCAGTCCGTCAGCGAGGGGCTCTCCCAGCGGTCCAGAGCCGGGTCCCAGTCTATCAGAGAGGTCCCAGCGAGGTTCTAGGACCTGCACCCTAGCCAAGTGCGGCTGTGAAGTGTTCGATGACTCTCTGGCCTGGGCCACCCACACCCATTCGCCCTGGAAGAGGCCAAGGCCACGGAGACAGCTCCGGCTCACCCCTAGTGAATCTCCAGTCCCTCCCAGAACTCCCTGGAGTCGCCGCACTGTGCCAGAAACCGCAAAGGAGGACACCACGGGCGGGGGTGGGGGCCGACTGCTGTCCCCAGACTCTGGACACAGTCTGGCCCGCCCGCGGAGCTCAGTCACAGCCAGCCGAGTCCCTGGGCCCAGCAGCCCTTGCAACGCCGGCCGCGTCTCCAGCACCCGCGGTCCGGGCACTGGGAGGGTCTCTCCGCGCCTCACCAGCAGCGGCCCGACTCGCGGTCCGAGCCCAGGCCCCAGCGAGGTGCCAAGCAGTGCCCAACCTAGCGCCGGGGGCCGCCGCACCGCCCGCGCCCGCACCCAGGCCCCGGAGCCCAGTGCCAGGAGCCGCAGCAGCGCGCGGCTAACCAGTAGCTGCGGCGGCCCGGGACCCTGCTCTTCGGTGCCCGCGTCCGGCCCCTCCAGGGCTGCCACCAGCAGCGCCGGCCCTGCCGGGCTCTCCCCTGCAGGCCTCAGGGCCAGCACCAGGCCCAGCTCCGCCGCCGGCCACGGGCCCCCGGGTGGCAGCAGCACTGCCAACGGGGGTGTCTCGGTCGGAAAGGGCTCCAGGACCCGCAAGACAGCCAGCGCCATGGTGACAGGACACCAACGAGGAGGGTGAAGGAGCGCAGCTTCCGGAGCCAGAGAGCCAGACGACTAGTGTGCGCGAGGGCCGCTTCCGCTTCCGTCAGGGGAGGCCAGAGGAAAAGGGGAGGGGGGTCGGGTGCCGCGAACTTGCTCTGAGGGGGTTAGCTGCGCCTCGGATTGATCTGCGTCGTGCCTCGATAGGCAGTAACCTTCATCGCTGCGGTTGCGTAGCGTTTACCCATGCGCCATTTGAACTTGTGCTTAAGGGATTTATCTTTGCCTTCTACGGAAGTAATGTTCTCTTAACTATTTTTCCCCGTGGCATGAACGTAACAGTTTATTGACTGATAAATGAACAGTCAGCATGCTCGGGATGACTGGGCCCAGTACTGGGAGCTCTAGGTGAAATGTTTCGGAAGGAGTCCGCTCCTCTGCGGAGCTCCTGCAGCTTCCCCTGTGGAACTGTGAGCACTGAGGTTTGAGGGTTGCAGGAAAGGTTGCAGGAGGGAGTAGCAGGATTAGAAAACTGTCTCACACTTGCTTATAGGTATATAGTGGCTGCTGAGTGAATTACTAGATGTGATTCATACAGCCCTGGAGTGCTTGGTGCCACCACACATGTTCCAGCACATCTGGCACAAAACCCATGTTCCAGGACTTCTTGCCCTGTTCATTGTTCTGTTTGTTTTACTCCCACCAAACTTAAGTTGAAGACAAAACAGCTTTTCTTTCACCCCCCCCCCCCAAATCCTTGCAGATCGGAAACCCATTCACTTTCTATCCTAGAGCGGGGCAGGCAGCAGAGCAGGCAGAAGGAAAGGAGTTCAAGGCTTCTGTCAGCATAACACCAACAGTCGACTTCCTGCGTGTGCTGTTATTTAGATTCCATCCTTCTCTTCACCTCCACTGTTCTGTACAAGACACTCAGCTAGTGGTAGGCCACATTTCCTTTTTTATGGCAACAGGGTCCTACTCTGTCACCCAGGTTGGAGTACAGTGGCACGATCCCCATTCATTGCAGCTTCTACCGTCCCAGGCTCAAGTGATCTCCCACCTCAGCCTCCCGAGTAACTGTAGCCGGGACCACAGGCACACGCCACCATACCCAGCCAATTTTTTTTTTGAGACGGAGTTTCGGTCTTGTTGCCCAGGCCAGAGTGCAATGGCACGATCTCAGCTCACTGCAATCTCCGCTTCCCAGGTTCAAAGAATCTCCTGCCCCAGCCTCCCAAGTAGCTGAGATTACAGGTGTGTGCCACCACACCCAGCTAATGTTGTATTTTCAGTAGAGACGGGGTTTCACCCTGTTGGTCAGGCTGGTCTCGAACTCCTGGCTTCAAGTGAGCCACCTGCTTACGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACTGCGCCTGGACTAATTTTTTATTTTTTGTAGAGACAGAGTTTCTCTGTGTTGCCTAGGCTGGTCTCAAACTCCTGGTCTGAAGAGATCCTCAGGCCTCAGCCTCCCAAAGTGCTGGGACTACAGGCATAAGCCATCATGTCCCACTGCATTTCCAATTATTAACAATTATTTTCACTTACAATAAATGAATTGGATGGTGCCAATCTCCATTTTCTAGACCTTACATTCTCTTTCAGCTACTGCTCAGCTTTCTCCATCTCTCCTTTCTTCTTGAGGCAGTCTTCTATTTTGTACATTATACATTCCTGAAAATTTGAAAGACAAATATATGAAAACTATTAGATTTGCATATTATAAGGGGCTGGGCGCAGTGGCTCATGGCTGTAATCCCAGCACTTTGGGAGGCCAAGTGGGTGGACTGCTTGAGGCCAGGAGTTTGAGACCAGCCTGGCCAACATGGTGAAACCCCGTCTCTACTAAAAATACAAAAATTAGCTGGGTATGGTGGTGTGTGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATGGCGTGAAGCCGGGAGACAGAGCTTGCAGTGAGCCGAGACTGCGCCACTGCACTCCAGCCTGGGTGACAGAGTGAGATTCCGTCTCAAAAAAATAAATAATAGAA
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TAATAGGAAACAATTTGAAGTCAAGGATAAGAATGAGCAAAAGCACAGAGACATCATCCTCCATATTATAAAGCACAATACTGAATACATTGTAGCAATTCAATAAACTAATTAGATTGAGTAGATTAACATACACATCTGAAACCTCACTTTTTTTTTTTTTTTTTTTTACACAGAATTTCGCTCTGTCGTCCAGGCTGGAGTGCAGTGGTGTGATCTGGGCTCACTGCAACCTCCACCTCCCAGGTTCAAACAATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGATTACAGGCATGCACCACCACACCCAAACTTCACCTTTCACCTGAATGGATGAAAGCCTTTTGTATGCCCCACTACATTATGGAGGCTTATGATATTTTGATTACAGAATATGGATCAATAGGCCGGGTGAGGTGGCTCACGCCTGTAATCCCAACACTTTGGGTGGATCACCTGAGGTCAGGAGTTCGAGACCAGCCTGACCAATACGGTGAAACCCCGTCTCTACTAAAAATTACAAAAATTAGCCGGGCGTCGTGGCGCGAGCCAGTAGTAGGAGGCTGAGACAGGAGAATCGCTTGAACCTGGGAGGCGGAGGTTGCAGTAAGCCGAGATCGCATCACCACATTCCAGCCTGGGTGACAGAGCAAGACCCCATCTCAAAAAAAAAAAAAAAAAAAAAAAAAGGAAAGAAAGAAAAAGAAAATAGATAAATGAGGCTAAGAAACATTATGCTTTTTTTTTTTTTTTTTTGAGACAGAGTTTCACTCTTATCGCCCAGGCTGGAGTCCAATGGCGCGATCTTGGCTCACCGCAACCTCCGCCTCCCAGGTTCAAGCGATTCTCCTGCTTCAGCCTCCCAAGTAGCTGGGATTAGAGGCATGCACCACCACGCCCGGCTAATTTTACATTTTTTTAGTAGAGACGGGGTTTCTCCATGTTGGTCAGGCTGGTCTCGAACTCCCGACCCCAAGTGATCCGCTCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGTCACCGCGCCCGGCTAGAAACATTATGTTCAAAGTCCGGGATGATATGGGGCACGAGTCCTAAATCTTCCAATTTACCTAAGACAGAGAAGAGGGTATAAGAAAGAGGAAGCACTCCTGACCCCAGTCCTTTATCCTACCTGAATTCTGAGCTCTCCCATTTCCAGGGGGTCACAGCCAAGATTAAAAGCCAAAGTGGCAGGGACAAGCGCCAGTCCGTCAGCGAGGGGCTCTCCCAGCGGTCCAGAGCCGGGTCCCAGTCTATCAGAGAGGTCCCAGCGAGGTTCTAGGACCTGCACCCTAGCCAAGTGCGGCTGTGAAGTGTTCGATGACTCTCTGGCCTGGGCCACCCACACCCATTCGCCCTGGAAGAGGCCAAGGCCACGGAGACAGCTCCGGCTCACCCCTAGTGAATCTCCAGTCCCTCCCAGAACTCCCTGGAGTCGCCGCACTGTGCCAGAAACCGCAAAGGAGGACACCACGGGCGGGGGTGGGGGCCGACTGCTGTCCCCAGACTCTGGACACAGTCTGGCCCGCCCGCGGAGCTCAGTCACAGCCAGCCGAGTCCCTGGGCCCAGCAGCCCTTGCAACGCCGGCCGCGTCTCCAGCACCCGCGGTCCGGGCACTGGGAGGGTCTCTCCGCGCCTCACCAGCAGCGGCCCGACTCGCGGTCCGAGCCCAGGCCCCAGCGAGGTGCCAAGCAGTGCCCAACCTAGCGCCGGGGGCCGCCGCACCGCCCGCGCCCGCACCCAGGCCCCGGAGCCCAGTGCCAGGAGCCGCAGCAGCGCGCGGCTAACCAGTAGCTGCGGCGGCCCGGGACCCTGCTCTTCGGTGCCCGCGTCCGGCCCCTCCAGGGCTGCCACCAGCAGCGCCGGCCCTGCCGGGCTCTCCCCTGCAGGCCTCAGGGCCAGCACCAGGCCCAGCTCCGCCGCCGGCCACGGGCCCCCGGGTGGCAGCAGCACTGCCAACGGGGGTGTCTCGGTCGGAAAGGGCTCCAGGACCCGCAAGACAGCCAGCGCCACGGTGACAGGACACCAACGAGGAGGGTGAAGGAGCGCAGCTTCCGGAGCCAGAGAGCCAGACGACTAGTGTGCGCGAGGGCCGCTTCCGCTTCCGTCAGGGGAGGCCAGAGGAAAAGGGGAGGGGGGTCGGGTGCCGCGAACTTGCTCTGAGGGGGTTAGCTGCGCCTCGGATTGATCTGCGTCGTGCCTCGATAGGCAGTAACCTTCATCGCTGCGGTTGCGTAGCGTTTACCCATGCGCCATTTGAACTTGTGCTTAAGGGATTTATCTTTGCCTTCTACGGAAGTAATGTTCTCTTAACTATTTTTCCCCGTGGCATGAACGTAACAGTTTATTGACTGATAAATGAACAGTCAGCATGCTCGGGATGACTGGGCCCAGTACTGGGAGCTCTAGGTGAAATGTTTCGGAAGGAGTCCGCTCCTCTGCGGAGCTCCTGCAGCTTCCCCTGTGGAACTGTGAGCACTGAGGTTTGAGGGTTGCAGGAAAGGTTGCAGGAGGGAGTAGCAGGATTAGAAAACTGTCTCACACTTGCTTATAGGTATATAGTGGCTGCTGAGTGAATTACTAGATGTGATTCATACAGCCCTGGAGTGCTTGGTGCCACCACACATGTTCCAGCACATCTGGCACAAAACCCATGTTCCAGGACTTCTTGCCCTGTTCATTGTTCTGTTTGTTTTACTCCCACCAAACTTAAGTTGAAGACAAAACAGCTTTTCTTTCACCCCCCCCCCCCAAATCCTTGCAGATCGGAAACCCATTCACTTTCTATCCTAGAGCGGGGCAGGCAGCAGAGCAGGCAGAAGGAAAGGAGTTCAAGGCTTCTGTCAGCATAACACCAACAGTCGACTTCCTGCGTGTGCTGTTATTTAGATTCCATCCTTCTCTTCACCTCCACTGTTCTGTACAAGACACTCAGCTAGTGGTAGGCCACATTTCCTTTTTTATGGCAACAGGGTCCTACTCTGTCACCCAGGTTGGAGTACAGTGGCACGATCCCCATTCATTGCAGCTTCTACCGTCCCAGGCTCAAGTGATCTCCCACCTCAGCCTCCCGAGTAACTGTAGCCGGGACCACAGGCACACGCCACCATACCCAGCCAATTTTTTTTTTGAGACGGAGTTTCGGTCTTGTTGCCCAGGCCAGAGTGCAATGGCACGATCTCAGCTCACTGCAATCTCCGCTTCCCAGGTTCAAAGAATCTCCTGCCCCAGCCTCCCAAGTAGCTGAGATTACAGGTGTGTGCCACCACACCCAGCTAATGTTGTATTTTCAGTAGAGACGGGGTTTCACCCTGTTGGTCAGGCTGGTCTCGAACTCCTGGCTTCAAGTGAGCCACCTGCTTACGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACTGCGCCTGGACTAATTTTTTATTTTTTGTAGAGACAGAGTTTCTCTGTGTTGCCTAGGCTGGTCTCAAACTCCTGGTCTGAAGAGATCCTCAGGCCTCAGCCTCCCAAAGTGCTGGGACTACAGGCATAAGCCATCATGTCCCACTGCATTTCCAATTATTAACAATTATTTTCACTTACAATAAATGAATTGGATGGTGCCAATCTCCATTTTCTAGACCTTACATTCTCTTTCAGCTACTGCTCAGCTTTCTCCATCTCTCCTTTCTTCTTGAGGCAGTCTTCTATTTTGTACATTATACATTCCTGAAAATTTGAAAGACAAATATATGAAAACTATTAGATTTGCATATTATAAGGGGCTGGGCGCAGTGGCTCATGGCTGTAATCCCAGCACTTTGGGAGGCCAAGTGGGTGGACTGCTTGAGGCCAGGAGTTTGAGACCAGCCTGGCCAACATGGTGAAACCCCGTCTCTACTAAAAATACAAAAATTAGCTGGGTATGGTGGTGTGTGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATGGCGTGAAGCCGGGAGACAGAGCTTGCAGTGAGCCGAGACTGCGCCACTGCACTCCAGCCTGGGTGACAGAGTGAGATTCCGTCTCAAAAAAATAAATAATAGAA
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Task1_train_10353
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This variant lies on Chromosome 6 and affects the gene PPP2R5D (protein phosphatase 2 regulatory subunit B'delta). Based on this context, is the mutation pathogenic or benign? If pathogenic, what disease does it cause?
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Pathogenic; Hogue-Janssens syndrome 1
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CTCTTAGCTCTTTCCTCATTAGATTCCTTTAGATTTTCACATTAGATTCTTTTCCTACTTTAGATTAGATTCCTTTAGATTTTCACATTGGATTCTTTTCCTACTTTTTTTTTTTTTTTTTTGAGATTTAGATATTATCAATTGACTTTCTACCATGGAAAATAAGTCCTCATCATTCTTATGCCTTTCTGCAGACATTTCCCTTCCTCCAAAAATACCACCATTTTGGGCAAATTACTATGAACGTGAAAATATTTTTTACAACTAAACTATGTATTACATAGTTTTCTTTTCTTTTTTTTTTTTTTGAGGCAGAGTCTCACTCTGTCATCCAGGCTGGAGTGCAATGGCGCAATCTTGGCTCACTGCAACCTCCTGGGTTCAAGTGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGATTACAGGCACCCGCCACCACACCCGGCTAATTTTGTATTTTTAGTAAGAGATGGGGTTTCACCTTGCTGGCCAGCTGGTCTGGAACTCCTGACCTCAAGTGATACACCCACCTTGGCCAAAGTGCTGGGATTACAGGCATGAGCCACTCACTGCACCTGGCCCATAGTTTTTATAAACATAATATTAACTCCTGATATTCCATTTATTCATTTTCTGTTATAAATGAGGTTGTTAAAAGTATTTGTGCACAAAGCTTTTTTTTTTTTTTTTCTTTTTGCCTGGCTACCTCTGTCTCCTCCAAAGCTTTTTTTTTTTAATTTAGGATTTTTATTAAGCTAAATTTCTAGTAAAGTCCTAAGACATGGGAATGAATTTCTTTCTTTTACCTTTTTAAATTTGAAAATTTTTATCTTTAGAGACAGTGTTGTTTTGTTGTTCAGGCTGGAGTGCAGTTGGTGTGATCATAGCTCATGGGAGACTTGAACTCCTGGGCGCAAGGGATCCTCCAACCTTGAGTAGCTGGAACTCCAGTAAGCTTCCTGAGTAGCTGGAACTGCAGGCATGTGCCACCACACCTGGCTAATTAAAAAAAATTTTTTGTAGAGATGGGGTCTTGCTACGTTGTTCAGGCTGGTTTCAAACTTCTGGCTTCAAGTAATCCTCCTGCTTTGGCTTCCCAAAGTGTTGGGATTACAGGCTTTGGCCACTGTGCCTGGCCTTTCTTTTACCTTTTGTTTTGTTTTTTTTTTTTGAGACAAAGTCTCGCTCTTGTCCCCCAGGCTGGAGTGCAATGGCATGATCTCGGCTCACTGCAACCTCCGCCTCCTGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGATTACAGGCGCCTGCCACCACGCCTGGCTAATGTTTGTATTTTTAGTAGAGATGGGGTTTCACCATGTTGGCCTGGCTGGTCTTGAACTCTTGACCTCAGGTGATCTGCCCTCCTCGGCCTCCCAAAGTGCTGGGATTACAAGTGTGAGCCACTGCGCCCGGCCTCTTCTACCTTTTGATTGGAGACTGTCATACATTCAGTAAAGGATCTTAAGTGTACTGCTCAATAAATTTTAGGTATGTATCTGCCATGCACCACCTTGCAGGTCCAGTCAAGATACAGGATGTTTACATTACTCAGAAGGCTCCTCATGTCTCTTCTTATTCCTCATGTGTCTTCTTATTCATCATGTGTCTTCTTAGCAATACCCACCCCATTTCCCCTGGCAACGTAATCACTTTTTTGACTTCTGTCACCATCAATCTATCAATTAGCTTTACCTGTTCATGAACTGGAATGAACGTTTTAAAGGCTCTTGATGCACAAGCAGTGGGCATCTCTTTGGGTGATGTGACTTCTTGACTGCTCCCTGCCAGGGCTACAGCACAGTTATCTCTGTAACCCTGGCCTTAGCTCCTTCGGGGCAGGAGACAGCTGCTCACTGCCCAGGCCTGTGCAGGCATAAACAGACTTGGGGATGGCCAGGCCCAGGGTGGGAGGCATATCTTGGGAAGTGGATTTCAACAGGTGACTTGTTTGACCAGGCCCAGCCGCAGCCCCAGCCCCAGCCCCAGCCCCAAGCCCAGTCTCAGCCACCGTCATCCAACAAGCGTCCCAGCAATAGCACGCCGCCCCCCACGCAGCTCAGCAAAATCAAGTACTCAGGGGGGCCCCAGATTGTCAAGAAGGAGCGACGGCAAAGCTCCTCCCGCTTCAACCTCAGCAAGAATCGGGAGCTGCAGAAGCTTCCTGCCCTGAAAGGTACTTGGCAATTGGTCACAGGGGCTGTTTTACCAGTTCTAGTGGGCATCGGGAGTTGGTGGAATGGAAGTTTTGGGGTATTTTGCGGGGAAGGGAGTTCCAGAGAATGCGGGAAGGGGGTGCCAGGGAGCAGGATGGTGGCAGGGTGGGGTAAGGGAAAGCCCTTGAAGGCAAGCAGGGCATCGCAGTGAAGGACTACAGAGGAGAACCTGACTGCTGGGGCCCCCACAGATTCGCCAACCCAGGAGCGGGAGGAGCTGTTTATCCAGAAGCTACGCCAGTGCTGTGTCCTCTTTGACTTCGTGTCAGACCCACTCAGTGACCTCAAATTCAAGGAGGTGAAGCGGGCAGGACTCAACGAGATGGTGGAGTACATCACCCATAGCCGTGATGTTGTCACTGAGGCCATTTACCCTGAGGCTGTCACCATGGTGGGCACAGGGAAAGGACACAGGGGGGACTGGTGAGGGGCTCTGGAGAAGCCCAGGTGGAGCTCTAACTGGCCCTACCCCTCAGTTTTCAGTGAACCTCTTCCGGACGCTGCCACCTTCATCGAATCCCACAGGGGCTGAGTTTGACCCAGAGGAAGATGAGCCCACCCTGGAAGCTGCTTGGCCACATCTCCAGGTACCAGGGCAAGGGGGCAGATTGGCCGTGGCTGCAGGGAGTGGGGCACTTGGAGGCCTGCAAGTCCTTGGGAACATCCCCTCAGTGGCGTGCCTTTTCCCCTATAGCTCGTGTATGAGTTCTTCTTACGTTTCCTTGAGTCTCCTGATTTCCAGCCAAACATAGCCAAGAAGTACATCGACCAGAAGTTTGTACTTGCTGTGAGTCCCCGAGTTCCTGTCCTTGCCCTCTCTTTCCATTCCATGCCCCCTTCATCTGTGTCCCAGTGGCTCTTTCCCCTTAAGCTGAATATATTGGGTTTCATCCATGTCTGGTACGAGGAGGCTATAAAGGGTAAAAAACAAAACAAAACAAAACCCTACTCTGGCCTTAAGAAACTAACAACATAATGGTAGGAAACAAAAAAGCAACAGAGTACCTCTCTCAGGTCAATAGTGAGGCATCACTTTGGAAGTCTCAGTACAAATACAATAGAATCAGCAATATAATAGAATCACTGCTTTCTAAGACTTGCTGGCCCCCACTCCAGGGGACCTCTGCATTTCCCCTGGCGGGACCTATGTCACCCTGGCCACTGCCTTCCCTGGCTGCTGCCTCACTGGCTGCTTTCCCTCCCTTGTACCCCCAGCTCCTAGACCTATTTGACAGTGAGGATCCTCGAGAGCGGGACTTCCTCAAGACCATTTTGCATCGCATCTATGGCAAGTTTTTGGGGCTCCGGGCTTATATCCGTAGGCAGATCAACCACATCTTCTACAGGTGAGGCCAGGAGCCCAGGCTTAGGAGCAAAACCTTCTGCTACTGAGGTGGGGTGGGAGCAGGGAGGTGGGGGGACTGTACAGAATGCTGGAGGGACATCAGGGGTTGTCAAGAGAGCCATTTTTCTTCCCTCAGGTTCATCTACGAGACGGAGCATCACAACGGGATTGCTGAGCTCCTGGAGATCCTGGGCAGGTGAGAGGCCGGGTGGGGGCACAGATGCCTGAAAAAGGTTGGCAGGATTGGTGTACTGAACTTGGATCTGACCCTCTGGTCCTAACAAATGTCCCTTAATTCCTAGCATCATCAATGGCTTTGCCCTGCCCCTTAAAGAAGAGCACAAGATGTTCCTCATCCGTGTCCTACTTCCCCTTCACAAGGTCAAGTCCCTGAGTGTCTACCACCCTCAGGTGAGCTGCCTTCCTCCTTATAATGTCCAACTCAGGCAGCAGAGAAAAGAGCCGGCAGGAAAGTGTTCCAGCTGGGATAGGGGAAG
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CTCTTAGCTCTTTCCTCATTAGATTCCTTTAGATTTTCACATTAGATTCTTTTCCTACTTTAGATTAGATTCCTTTAGATTTTCACATTGGATTCTTTTCCTACTTTTTTTTTTTTTTTTTTGAGATTTAGATATTATCAATTGACTTTCTACCATGGAAAATAAGTCCTCATCATTCTTATGCCTTTCTGCAGACATTTCCCTTCCTCCAAAAATACCACCATTTTGGGCAAATTACTATGAACGTGAAAATATTTTTTACAACTAAACTATGTATTACATAGTTTTCTTTTCTTTTTTTTTTTTTTGAGGCAGAGTCTCACTCTGTCATCCAGGCTGGAGTGCAATGGCGCAATCTTGGCTCACTGCAACCTCCTGGGTTCAAGTGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGATTACAGGCACCCGCCACCACACCCGGCTAATTTTGTATTTTTAGTAAGAGATGGGGTTTCACCTTGCTGGCCAGCTGGTCTGGAACTCCTGACCTCAAGTGATACACCCACCTTGGCCAAAGTGCTGGGATTACAGGCATGAGCCACTCACTGCACCTGGCCCATAGTTTTTATAAACATAATATTAACTCCTGATATTCCATTTATTCATTTTCTGTTATAAATGAGGTTGTTAAAAGTATTTGTGCACAAAGCTTTTTTTTTTTTTTTTCTTTTTGCCTGGCTACCTCTGTCTCCTCCAAAGCTTTTTTTTTTTAATTTAGGATTTTTATTAAGCTAAATTTCTAGTAAAGTCCTAAGACATGGGAATGAATTTCTTTCTTTTACCTTTTTAAATTTGAAAATTTTTATCTTTAGAGACAGTGTTGTTTTGTTGTTCAGGCTGGAGTGCAGTTGGTGTGATCATAGCTCATGGGAGACTTGAACTCCTGGGCGCAAGGGATCCTCCAACCTTGAGTAGCTGGAACTCCAGTAAGCTTCCTGAGTAGCTGGAACTGCAGGCATGTGCCACCACACCTGGCTAATTAAAAAAAATTTTTTGTAGAGATGGGGTCTTGCTACGTTGTTCAGGCTGGTTTCAAACTTCTGGCTTCAAGTAATCCTCCTGCTTTGGCTTCCCAAAGTGTTGGGATTACAGGCTTTGGCCACTGTGCCTGGCCTTTCTTTTACCTTTTGTTTTGTTTTTTTTTTTTGAGACAAAGTCTCGCTCTTGTCCCCCAGGCTGGAGTGCAATGGCATGATCTCGGCTCACTGCAACCTCCGCCTCCTGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGATTACAGGCGCCTGCCACCACGCCTGGCTAATGTTTGTATTTTTAGTAGAGATGGGGTTTCACCATGTTGGCCTGGCTGGTCTTGAACTCTTGACCTCAGGTGATCTGCCCTCCTCGGCCTCCCAAAGTGCTGGGATTACAAGTGTGAGCCACTGCGCCCGGCCTCTTCTACCTTTTGATTGGAGACTGTCATACATTCAGTAAAGGATCTTAAGTGTACTGCTCAATAAATTTTAGGTATGTATCTGCCATGCACCACCTTGCAGGTCCAGTCAAGATACAGGATGTTTACATTACTCAGAAGGCTCCTCATGTCTCTTCTTATTCCTCATGTGTCTTCTTATTCATCATGTGTCTTCTTAGCAATACCCACCCCATTTCCCCTGGCAACGTAATCACTTTTTTGACTTCTGTCACCATCAATCTATCAATTAGCTTTACCTGTTCATGAACTGGAATGAACGTTTTAAAGGCTCTTGATGCACAAGCAGTGGGCATCTCTTTGGGTGATGTGACTTCTTGACTGCTCCCTGCCAGGGCTACAGCACAGTTATCTCTGTAACCCTGGCCTTAGCTCCTTCGGGGCAGGAGACAGCTGCTCACTGCCCAGGCCTGTGCAGGCATAAACAGACTTGGGGATGGCCAGGCCCAGGGTGGGAGGCATATCTTGGGAAGTGGATTTCAACAGGTGACTTGTTTGACCAGGCCCAGCCGCAGCCCCAGCCCCAGCCCCAGCCCCAAGCCCAGTCTCAGCCATCGTCATCCAACAAGCGTCCCAGCAATAGCACGCCGCCCCCCACGCAGCTCAGCAAAATCAAGTACTCAGGGGGGCCCCAGATTGTCAAGAAGGAGCGACGGCAAAGCTCCTCCCGCTTCAACCTCAGCAAGAATCGGGAGCTGCAGAAGCTTCCTGCCCTGAAAGGTACTTGGCAATTGGTCACAGGGGCTGTTTTACCAGTTCTAGTGGGCATCGGGAGTTGGTGGAATGGAAGTTTTGGGGTATTTTGCGGGGAAGGGAGTTCCAGAGAATGCGGGAAGGGGGTGCCAGGGAGCAGGATGGTGGCAGGGTGGGGTAAGGGAAAGCCCTTGAAGGCAAGCAGGGCATCGCAGTGAAGGACTACAGAGGAGAACCTGACTGCTGGGGCCCCCACAGATTCGCCAACCCAGGAGCGGGAGGAGCTGTTTATCCAGAAGCTACGCCAGTGCTGTGTCCTCTTTGACTTCGTGTCAGACCCACTCAGTGACCTCAAATTCAAGGAGGTGAAGCGGGCAGGACTCAACGAGATGGTGGAGTACATCACCCATAGCCGTGATGTTGTCACTGAGGCCATTTACCCTGAGGCTGTCACCATGGTGGGCACAGGGAAAGGACACAGGGGGGACTGGTGAGGGGCTCTGGAGAAGCCCAGGTGGAGCTCTAACTGGCCCTACCCCTCAGTTTTCAGTGAACCTCTTCCGGACGCTGCCACCTTCATCGAATCCCACAGGGGCTGAGTTTGACCCAGAGGAAGATGAGCCCACCCTGGAAGCTGCTTGGCCACATCTCCAGGTACCAGGGCAAGGGGGCAGATTGGCCGTGGCTGCAGGGAGTGGGGCACTTGGAGGCCTGCAAGTCCTTGGGAACATCCCCTCAGTGGCGTGCCTTTTCCCCTATAGCTCGTGTATGAGTTCTTCTTACGTTTCCTTGAGTCTCCTGATTTCCAGCCAAACATAGCCAAGAAGTACATCGACCAGAAGTTTGTACTTGCTGTGAGTCCCCGAGTTCCTGTCCTTGCCCTCTCTTTCCATTCCATGCCCCCTTCATCTGTGTCCCAGTGGCTCTTTCCCCTTAAGCTGAATATATTGGGTTTCATCCATGTCTGGTACGAGGAGGCTATAAAGGGTAAAAAACAAAACAAAACAAAACCCTACTCTGGCCTTAAGAAACTAACAACATAATGGTAGGAAACAAAAAAGCAACAGAGTACCTCTCTCAGGTCAATAGTGAGGCATCACTTTGGAAGTCTCAGTACAAATACAATAGAATCAGCAATATAATAGAATCACTGCTTTCTAAGACTTGCTGGCCCCCACTCCAGGGGACCTCTGCATTTCCCCTGGCGGGACCTATGTCACCCTGGCCACTGCCTTCCCTGGCTGCTGCCTCACTGGCTGCTTTCCCTCCCTTGTACCCCCAGCTCCTAGACCTATTTGACAGTGAGGATCCTCGAGAGCGGGACTTCCTCAAGACCATTTTGCATCGCATCTATGGCAAGTTTTTGGGGCTCCGGGCTTATATCCGTAGGCAGATCAACCACATCTTCTACAGGTGAGGCCAGGAGCCCAGGCTTAGGAGCAAAACCTTCTGCTACTGAGGTGGGGTGGGAGCAGGGAGGTGGGGGGACTGTACAGAATGCTGGAGGGACATCAGGGGTTGTCAAGAGAGCCATTTTTCTTCCCTCAGGTTCATCTACGAGACGGAGCATCACAACGGGATTGCTGAGCTCCTGGAGATCCTGGGCAGGTGAGAGGCCGGGTGGGGGCACAGATGCCTGAAAAAGGTTGGCAGGATTGGTGTACTGAACTTGGATCTGACCCTCTGGTCCTAACAAATGTCCCTTAATTCCTAGCATCATCAATGGCTTTGCCCTGCCCCTTAAAGAAGAGCACAAGATGTTCCTCATCCGTGTCCTACTTCCCCTTCACAAGGTCAAGTCCCTGAGTGTCTACCACCCTCAGGTGAGCTGCCTTCCTCCTTATAATGTCCAACTCAGGCAGCAGAGAAAAGAGCCGGCAGGAAAGTGTTCCAGCTGGGATAGGGGAAG
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Task1_train_10354
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Given this context: Chromosome 6, gene PPP2R5D (protein phosphatase 2 regulatory subunit B'delta) — does this variant present pathogenic behavior, and if so, what disease does it relate to?
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Pathogenic; Hogue-Janssens syndrome 1
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CCTGACCTCAAGTGATACACCCACCTTGGCCAAAGTGCTGGGATTACAGGCATGAGCCACTCACTGCACCTGGCCCATAGTTTTTATAAACATAATATTAACTCCTGATATTCCATTTATTCATTTTCTGTTATAAATGAGGTTGTTAAAAGTATTTGTGCACAAAGCTTTTTTTTTTTTTTTTCTTTTTGCCTGGCTACCTCTGTCTCCTCCAAAGCTTTTTTTTTTTAATTTAGGATTTTTATTAAGCTAAATTTCTAGTAAAGTCCTAAGACATGGGAATGAATTTCTTTCTTTTACCTTTTTAAATTTGAAAATTTTTATCTTTAGAGACAGTGTTGTTTTGTTGTTCAGGCTGGAGTGCAGTTGGTGTGATCATAGCTCATGGGAGACTTGAACTCCTGGGCGCAAGGGATCCTCCAACCTTGAGTAGCTGGAACTCCAGTAAGCTTCCTGAGTAGCTGGAACTGCAGGCATGTGCCACCACACCTGGCTAATTAAAAAAAATTTTTTGTAGAGATGGGGTCTTGCTACGTTGTTCAGGCTGGTTTCAAACTTCTGGCTTCAAGTAATCCTCCTGCTTTGGCTTCCCAAAGTGTTGGGATTACAGGCTTTGGCCACTGTGCCTGGCCTTTCTTTTACCTTTTGTTTTGTTTTTTTTTTTTGAGACAAAGTCTCGCTCTTGTCCCCCAGGCTGGAGTGCAATGGCATGATCTCGGCTCACTGCAACCTCCGCCTCCTGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGATTACAGGCGCCTGCCACCACGCCTGGCTAATGTTTGTATTTTTAGTAGAGATGGGGTTTCACCATGTTGGCCTGGCTGGTCTTGAACTCTTGACCTCAGGTGATCTGCCCTCCTCGGCCTCCCAAAGTGCTGGGATTACAAGTGTGAGCCACTGCGCCCGGCCTCTTCTACCTTTTGATTGGAGACTGTCATACATTCAGTAAAGGATCTTAAGTGTACTGCTCAATAAATTTTAGGTATGTATCTGCCATGCACCACCTTGCAGGTCCAGTCAAGATACAGGATGTTTACATTACTCAGAAGGCTCCTCATGTCTCTTCTTATTCCTCATGTGTCTTCTTATTCATCATGTGTCTTCTTAGCAATACCCACCCCATTTCCCCTGGCAACGTAATCACTTTTTTGACTTCTGTCACCATCAATCTATCAATTAGCTTTACCTGTTCATGAACTGGAATGAACGTTTTAAAGGCTCTTGATGCACAAGCAGTGGGCATCTCTTTGGGTGATGTGACTTCTTGACTGCTCCCTGCCAGGGCTACAGCACAGTTATCTCTGTAACCCTGGCCTTAGCTCCTTCGGGGCAGGAGACAGCTGCTCACTGCCCAGGCCTGTGCAGGCATAAACAGACTTGGGGATGGCCAGGCCCAGGGTGGGAGGCATATCTTGGGAAGTGGATTTCAACAGGTGACTTGTTTGACCAGGCCCAGCCGCAGCCCCAGCCCCAGCCCCAGCCCCAAGCCCAGTCTCAGCCACCGTCATCCAACAAGCGTCCCAGCAATAGCACGCCGCCCCCCACGCAGCTCAGCAAAATCAAGTACTCAGGGGGGCCCCAGATTGTCAAGAAGGAGCGACGGCAAAGCTCCTCCCGCTTCAACCTCAGCAAGAATCGGGAGCTGCAGAAGCTTCCTGCCCTGAAAGGTACTTGGCAATTGGTCACAGGGGCTGTTTTACCAGTTCTAGTGGGCATCGGGAGTTGGTGGAATGGAAGTTTTGGGGTATTTTGCGGGGAAGGGAGTTCCAGAGAATGCGGGAAGGGGGTGCCAGGGAGCAGGATGGTGGCAGGGTGGGGTAAGGGAAAGCCCTTGAAGGCAAGCAGGGCATCGCAGTGAAGGACTACAGAGGAGAACCTGACTGCTGGGGCCCCCACAGATTCGCCAACCCAGGAGCGGGAGGAGCTGTTTATCCAGAAGCTACGCCAGTGCTGTGTCCTCTTTGACTTCGTGTCAGACCCACTCAGTGACCTCAAATTCAAGGAGGTGAAGCGGGCAGGACTCAACGAGATGGTGGAGTACATCACCCATAGCCGTGATGTTGTCACTGAGGCCATTTACCCTGAGGCTGTCACCATGGTGGGCACAGGGAAAGGACACAGGGGGGACTGGTGAGGGGCTCTGGAGAAGCCCAGGTGGAGCTCTAACTGGCCCTACCCCTCAGTTTTCAGTGAACCTCTTCCGGACGCTGCCACCTTCATCGAATCCCACAGGGGCTGAGTTTGACCCAGAGGAAGATGAGCCCACCCTGGAAGCTGCTTGGCCACATCTCCAGGTACCAGGGCAAGGGGGCAGATTGGCCGTGGCTGCAGGGAGTGGGGCACTTGGAGGCCTGCAAGTCCTTGGGAACATCCCCTCAGTGGCGTGCCTTTTCCCCTATAGCTCGTGTATGAGTTCTTCTTACGTTTCCTTGAGTCTCCTGATTTCCAGCCAAACATAGCCAAGAAGTACATCGACCAGAAGTTTGTACTTGCTGTGAGTCCCCGAGTTCCTGTCCTTGCCCTCTCTTTCCATTCCATGCCCCCTTCATCTGTGTCCCAGTGGCTCTTTCCCCTTAAGCTGAATATATTGGGTTTCATCCATGTCTGGTACGAGGAGGCTATAAAGGGTAAAAAACAAAACAAAACAAAACCCTACTCTGGCCTTAAGAAACTAACAACATAATGGTAGGAAACAAAAAAGCAACAGAGTACCTCTCTCAGGTCAATAGTGAGGCATCACTTTGGAAGTCTCAGTACAAATACAATAGAATCAGCAATATAATAGAATCACTGCTTTCTAAGACTTGCTGGCCCCCACTCCAGGGGACCTCTGCATTTCCCCTGGCGGGACCTATGTCACCCTGGCCACTGCCTTCCCTGGCTGCTGCCTCACTGGCTGCTTTCCCTCCCTTGTACCCCCAGCTCCTAGACCTATTTGACAGTGAGGATCCTCGAGAGCGGGACTTCCTCAAGACCATTTTGCATCGCATCTATGGCAAGTTTTTGGGGCTCCGGGCTTATATCCGTAGGCAGATCAACCACATCTTCTACAGGTGAGGCCAGGAGCCCAGGCTTAGGAGCAAAACCTTCTGCTACTGAGGTGGGGTGGGAGCAGGGAGGTGGGGGGACTGTACAGAATGCTGGAGGGACATCAGGGGTTGTCAAGAGAGCCATTTTTCTTCCCTCAGGTTCATCTACGAGACGGAGCATCACAACGGGATTGCTGAGCTCCTGGAGATCCTGGGCAGGTGAGAGGCCGGGTGGGGGCACAGATGCCTGAAAAAGGTTGGCAGGATTGGTGTACTGAACTTGGATCTGACCCTCTGGTCCTAACAAATGTCCCTTAATTCCTAGCATCATCAATGGCTTTGCCCTGCCCCTTAAAGAAGAGCACAAGATGTTCCTCATCCGTGTCCTACTTCCCCTTCACAAGGTCAAGTCCCTGAGTGTCTACCACCCTCAGGTGAGCTGCCTTCCTCCTTATAATGTCCAACTCAGGCAGCAGAGAAAAGAGCCGGCAGGAAAGTGTTCCAGCTGGGATAGGGGAAGCATAGGGAGCAGGTGGGATAATTCCTTCCCTCCATCTCCCCTTCCCTTCTGGGATCTTGTTTCTATCACTGACTTCTCTGAGAGCTTCTAGGACCTACACCTCACCTCCCTTCTACCTCACACCTTTGCAGCTGGCATACTGTGTGGTACAATTCCTGGAGAAGGAGAGCAGTCTGACTGAGCCGGTAATTCCCCTTCCGGGCCCCAAGGCCCACCTCTTACTGTCAGCATCACTTGCCAGTCTGTACCTACTGGGGGTGCCATAAGGGGGAACTCAGGAGGGCTGTGACCTGACCGGTAACATGGTTTCCTCTCTGAAGGGGAAGCAAAACCTATATACACCTAGGAAACAGATCCAAGGCAAAGAAACGGGTAGCTGGCTGAGATCACCCAAACTGTGCCCACCAGGGTGGGGGAGAGAGCAGGTAGGAAAACTTCCTGGTGACCTAGGCAGGTGCAAAGAATTTTCATCCCCATGCCCTCCTTGTCTCCCAGGTAATTGTGGGAC
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CCTGACCTCAAGTGATACACCCACCTTGGCCAAAGTGCTGGGATTACAGGCATGAGCCACTCACTGCACCTGGCCCATAGTTTTTATAAACATAATATTAACTCCTGATATTCCATTTATTCATTTTCTGTTATAAATGAGGTTGTTAAAAGTATTTGTGCACAAAGCTTTTTTTTTTTTTTTTCTTTTTGCCTGGCTACCTCTGTCTCCTCCAAAGCTTTTTTTTTTTAATTTAGGATTTTTATTAAGCTAAATTTCTAGTAAAGTCCTAAGACATGGGAATGAATTTCTTTCTTTTACCTTTTTAAATTTGAAAATTTTTATCTTTAGAGACAGTGTTGTTTTGTTGTTCAGGCTGGAGTGCAGTTGGTGTGATCATAGCTCATGGGAGACTTGAACTCCTGGGCGCAAGGGATCCTCCAACCTTGAGTAGCTGGAACTCCAGTAAGCTTCCTGAGTAGCTGGAACTGCAGGCATGTGCCACCACACCTGGCTAATTAAAAAAAATTTTTTGTAGAGATGGGGTCTTGCTACGTTGTTCAGGCTGGTTTCAAACTTCTGGCTTCAAGTAATCCTCCTGCTTTGGCTTCCCAAAGTGTTGGGATTACAGGCTTTGGCCACTGTGCCTGGCCTTTCTTTTACCTTTTGTTTTGTTTTTTTTTTTTGAGACAAAGTCTCGCTCTTGTCCCCCAGGCTGGAGTGCAATGGCATGATCTCGGCTCACTGCAACCTCCGCCTCCTGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGATTACAGGCGCCTGCCACCACGCCTGGCTAATGTTTGTATTTTTAGTAGAGATGGGGTTTCACCATGTTGGCCTGGCTGGTCTTGAACTCTTGACCTCAGGTGATCTGCCCTCCTCGGCCTCCCAAAGTGCTGGGATTACAAGTGTGAGCCACTGCGCCCGGCCTCTTCTACCTTTTGATTGGAGACTGTCATACATTCAGTAAAGGATCTTAAGTGTACTGCTCAATAAATTTTAGGTATGTATCTGCCATGCACCACCTTGCAGGTCCAGTCAAGATACAGGATGTTTACATTACTCAGAAGGCTCCTCATGTCTCTTCTTATTCCTCATGTGTCTTCTTATTCATCATGTGTCTTCTTAGCAATACCCACCCCATTTCCCCTGGCAACGTAATCACTTTTTTGACTTCTGTCACCATCAATCTATCAATTAGCTTTACCTGTTCATGAACTGGAATGAACGTTTTAAAGGCTCTTGATGCACAAGCAGTGGGCATCTCTTTGGGTGATGTGACTTCTTGACTGCTCCCTGCCAGGGCTACAGCACAGTTATCTCTGTAACCCTGGCCTTAGCTCCTTCGGGGCAGGAGACAGCTGCTCACTGCCCAGGCCTGTGCAGGCATAAACAGACTTGGGGATGGCCAGGCCCAGGGTGGGAGGCATATCTTGGGAAGTGGATTTCAACAGGTGACTTGTTTGACCAGGCCCAGCCGCAGCCCCAGCCCCAGCCCCAGCCCCAAGCCCAGTCTCAGCCACCGTCATCCAACAAGCGTCCCAGCAATAGCACGCCGCCCCCCACGCAGCTCAGCAAAATCAAGTACTCAGGGGGGCCCCAGATTGTCAAGAAGGAGCGACGGCAAAGCTCCTCCCGCTTCAACCTCAGCAAGAATCGGGAGCTGCAGAAGCTTCCTGCCCTGAAAGGTACTTGGCAATTGGTCACAGGGGCTGTTTTACCAGTTCTAGTGGGCATCGGGAGTTGGTGGAATGGAAGTTTTGGGGTATTTTGCGGGGAAGGGAGTTCCAGAGAATGCGGGAAGGGGGTGCCAGGGAGCAGGATGGTGGCAGGGTGGGGTAAGGGAAAGCCCTTGAAGGCAAGCAGGGCATCGCAGTGAAGGACTACAGAGGAGAACCTGACTGCTGGGGCCCCCACAGATTCGCCAACCCAGGAGCGGGAGGAGCTGTTTATCCAGAAGCTACGCCAGTGCTGTGTCCTCTTTGACTTCGTGTCAGACCCACTCAGTGACCTCAAATTCAAGGAGGTGATGCGGGCAGGACTCAACGAGATGGTGGAGTACATCACCCATAGCCGTGATGTTGTCACTGAGGCCATTTACCCTGAGGCTGTCACCATGGTGGGCACAGGGAAAGGACACAGGGGGGACTGGTGAGGGGCTCTGGAGAAGCCCAGGTGGAGCTCTAACTGGCCCTACCCCTCAGTTTTCAGTGAACCTCTTCCGGACGCTGCCACCTTCATCGAATCCCACAGGGGCTGAGTTTGACCCAGAGGAAGATGAGCCCACCCTGGAAGCTGCTTGGCCACATCTCCAGGTACCAGGGCAAGGGGGCAGATTGGCCGTGGCTGCAGGGAGTGGGGCACTTGGAGGCCTGCAAGTCCTTGGGAACATCCCCTCAGTGGCGTGCCTTTTCCCCTATAGCTCGTGTATGAGTTCTTCTTACGTTTCCTTGAGTCTCCTGATTTCCAGCCAAACATAGCCAAGAAGTACATCGACCAGAAGTTTGTACTTGCTGTGAGTCCCCGAGTTCCTGTCCTTGCCCTCTCTTTCCATTCCATGCCCCCTTCATCTGTGTCCCAGTGGCTCTTTCCCCTTAAGCTGAATATATTGGGTTTCATCCATGTCTGGTACGAGGAGGCTATAAAGGGTAAAAAACAAAACAAAACAAAACCCTACTCTGGCCTTAAGAAACTAACAACATAATGGTAGGAAACAAAAAAGCAACAGAGTACCTCTCTCAGGTCAATAGTGAGGCATCACTTTGGAAGTCTCAGTACAAATACAATAGAATCAGCAATATAATAGAATCACTGCTTTCTAAGACTTGCTGGCCCCCACTCCAGGGGACCTCTGCATTTCCCCTGGCGGGACCTATGTCACCCTGGCCACTGCCTTCCCTGGCTGCTGCCTCACTGGCTGCTTTCCCTCCCTTGTACCCCCAGCTCCTAGACCTATTTGACAGTGAGGATCCTCGAGAGCGGGACTTCCTCAAGACCATTTTGCATCGCATCTATGGCAAGTTTTTGGGGCTCCGGGCTTATATCCGTAGGCAGATCAACCACATCTTCTACAGGTGAGGCCAGGAGCCCAGGCTTAGGAGCAAAACCTTCTGCTACTGAGGTGGGGTGGGAGCAGGGAGGTGGGGGGACTGTACAGAATGCTGGAGGGACATCAGGGGTTGTCAAGAGAGCCATTTTTCTTCCCTCAGGTTCATCTACGAGACGGAGCATCACAACGGGATTGCTGAGCTCCTGGAGATCCTGGGCAGGTGAGAGGCCGGGTGGGGGCACAGATGCCTGAAAAAGGTTGGCAGGATTGGTGTACTGAACTTGGATCTGACCCTCTGGTCCTAACAAATGTCCCTTAATTCCTAGCATCATCAATGGCTTTGCCCTGCCCCTTAAAGAAGAGCACAAGATGTTCCTCATCCGTGTCCTACTTCCCCTTCACAAGGTCAAGTCCCTGAGTGTCTACCACCCTCAGGTGAGCTGCCTTCCTCCTTATAATGTCCAACTCAGGCAGCAGAGAAAAGAGCCGGCAGGAAAGTGTTCCAGCTGGGATAGGGGAAGCATAGGGAGCAGGTGGGATAATTCCTTCCCTCCATCTCCCCTTCCCTTCTGGGATCTTGTTTCTATCACTGACTTCTCTGAGAGCTTCTAGGACCTACACCTCACCTCCCTTCTACCTCACACCTTTGCAGCTGGCATACTGTGTGGTACAATTCCTGGAGAAGGAGAGCAGTCTGACTGAGCCGGTAATTCCCCTTCCGGGCCCCAAGGCCCACCTCTTACTGTCAGCATCACTTGCCAGTCTGTACCTACTGGGGGTGCCATAAGGGGGAACTCAGGAGGGCTGTGACCTGACCGGTAACATGGTTTCCTCTCTGAAGGGGAAGCAAAACCTATATACACCTAGGAAACAGATCCAAGGCAAAGAAACGGGTAGCTGGCTGAGATCACCCAAACTGTGCCCACCAGGGTGGGGGAGAGAGCAGGTAGGAAAACTTCCTGGTGACCTAGGCAGGTGCAAAGAATTTTCATCCCCATGCCCTCCTTGTCTCCCAGGTAATTGTGGGAC
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Task1_train_10355
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This alteration occurs within gene PPP2R5D (protein phosphatase 2 regulatory subunit B'delta) located on Chromosome 6. Is it associated with a disease or is it a benign variant?
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Pathogenic; PPP2R5D-related disorder
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TTTATTAAGCTAAATTTCTAGTAAAGTCCTAAGACATGGGAATGAATTTCTTTCTTTTACCTTTTTAAATTTGAAAATTTTTATCTTTAGAGACAGTGTTGTTTTGTTGTTCAGGCTGGAGTGCAGTTGGTGTGATCATAGCTCATGGGAGACTTGAACTCCTGGGCGCAAGGGATCCTCCAACCTTGAGTAGCTGGAACTCCAGTAAGCTTCCTGAGTAGCTGGAACTGCAGGCATGTGCCACCACACCTGGCTAATTAAAAAAAATTTTTTGTAGAGATGGGGTCTTGCTACGTTGTTCAGGCTGGTTTCAAACTTCTGGCTTCAAGTAATCCTCCTGCTTTGGCTTCCCAAAGTGTTGGGATTACAGGCTTTGGCCACTGTGCCTGGCCTTTCTTTTACCTTTTGTTTTGTTTTTTTTTTTTGAGACAAAGTCTCGCTCTTGTCCCCCAGGCTGGAGTGCAATGGCATGATCTCGGCTCACTGCAACCTCCGCCTCCTGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGATTACAGGCGCCTGCCACCACGCCTGGCTAATGTTTGTATTTTTAGTAGAGATGGGGTTTCACCATGTTGGCCTGGCTGGTCTTGAACTCTTGACCTCAGGTGATCTGCCCTCCTCGGCCTCCCAAAGTGCTGGGATTACAAGTGTGAGCCACTGCGCCCGGCCTCTTCTACCTTTTGATTGGAGACTGTCATACATTCAGTAAAGGATCTTAAGTGTACTGCTCAATAAATTTTAGGTATGTATCTGCCATGCACCACCTTGCAGGTCCAGTCAAGATACAGGATGTTTACATTACTCAGAAGGCTCCTCATGTCTCTTCTTATTCCTCATGTGTCTTCTTATTCATCATGTGTCTTCTTAGCAATACCCACCCCATTTCCCCTGGCAACGTAATCACTTTTTTGACTTCTGTCACCATCAATCTATCAATTAGCTTTACCTGTTCATGAACTGGAATGAACGTTTTAAAGGCTCTTGATGCACAAGCAGTGGGCATCTCTTTGGGTGATGTGACTTCTTGACTGCTCCCTGCCAGGGCTACAGCACAGTTATCTCTGTAACCCTGGCCTTAGCTCCTTCGGGGCAGGAGACAGCTGCTCACTGCCCAGGCCTGTGCAGGCATAAACAGACTTGGGGATGGCCAGGCCCAGGGTGGGAGGCATATCTTGGGAAGTGGATTTCAACAGGTGACTTGTTTGACCAGGCCCAGCCGCAGCCCCAGCCCCAGCCCCAGCCCCAAGCCCAGTCTCAGCCACCGTCATCCAACAAGCGTCCCAGCAATAGCACGCCGCCCCCCACGCAGCTCAGCAAAATCAAGTACTCAGGGGGGCCCCAGATTGTCAAGAAGGAGCGACGGCAAAGCTCCTCCCGCTTCAACCTCAGCAAGAATCGGGAGCTGCAGAAGCTTCCTGCCCTGAAAGGTACTTGGCAATTGGTCACAGGGGCTGTTTTACCAGTTCTAGTGGGCATCGGGAGTTGGTGGAATGGAAGTTTTGGGGTATTTTGCGGGGAAGGGAGTTCCAGAGAATGCGGGAAGGGGGTGCCAGGGAGCAGGATGGTGGCAGGGTGGGGTAAGGGAAAGCCCTTGAAGGCAAGCAGGGCATCGCAGTGAAGGACTACAGAGGAGAACCTGACTGCTGGGGCCCCCACAGATTCGCCAACCCAGGAGCGGGAGGAGCTGTTTATCCAGAAGCTACGCCAGTGCTGTGTCCTCTTTGACTTCGTGTCAGACCCACTCAGTGACCTCAAATTCAAGGAGGTGAAGCGGGCAGGACTCAACGAGATGGTGGAGTACATCACCCATAGCCGTGATGTTGTCACTGAGGCCATTTACCCTGAGGCTGTCACCATGGTGGGCACAGGGAAAGGACACAGGGGGGACTGGTGAGGGGCTCTGGAGAAGCCCAGGTGGAGCTCTAACTGGCCCTACCCCTCAGTTTTCAGTGAACCTCTTCCGGACGCTGCCACCTTCATCGAATCCCACAGGGGCTGAGTTTGACCCAGAGGAAGATGAGCCCACCCTGGAAGCTGCTTGGCCACATCTCCAGGTACCAGGGCAAGGGGGCAGATTGGCCGTGGCTGCAGGGAGTGGGGCACTTGGAGGCCTGCAAGTCCTTGGGAACATCCCCTCAGTGGCGTGCCTTTTCCCCTATAGCTCGTGTATGAGTTCTTCTTACGTTTCCTTGAGTCTCCTGATTTCCAGCCAAACATAGCCAAGAAGTACATCGACCAGAAGTTTGTACTTGCTGTGAGTCCCCGAGTTCCTGTCCTTGCCCTCTCTTTCCATTCCATGCCCCCTTCATCTGTGTCCCAGTGGCTCTTTCCCCTTAAGCTGAATATATTGGGTTTCATCCATGTCTGGTACGAGGAGGCTATAAAGGGTAAAAAACAAAACAAAACAAAACCCTACTCTGGCCTTAAGAAACTAACAACATAATGGTAGGAAACAAAAAAGCAACAGAGTACCTCTCTCAGGTCAATAGTGAGGCATCACTTTGGAAGTCTCAGTACAAATACAATAGAATCAGCAATATAATAGAATCACTGCTTTCTAAGACTTGCTGGCCCCCACTCCAGGGGACCTCTGCATTTCCCCTGGCGGGACCTATGTCACCCTGGCCACTGCCTTCCCTGGCTGCTGCCTCACTGGCTGCTTTCCCTCCCTTGTACCCCCAGCTCCTAGACCTATTTGACAGTGAGGATCCTCGAGAGCGGGACTTCCTCAAGACCATTTTGCATCGCATCTATGGCAAGTTTTTGGGGCTCCGGGCTTATATCCGTAGGCAGATCAACCACATCTTCTACAGGTGAGGCCAGGAGCCCAGGCTTAGGAGCAAAACCTTCTGCTACTGAGGTGGGGTGGGAGCAGGGAGGTGGGGGGACTGTACAGAATGCTGGAGGGACATCAGGGGTTGTCAAGAGAGCCATTTTTCTTCCCTCAGGTTCATCTACGAGACGGAGCATCACAACGGGATTGCTGAGCTCCTGGAGATCCTGGGCAGGTGAGAGGCCGGGTGGGGGCACAGATGCCTGAAAAAGGTTGGCAGGATTGGTGTACTGAACTTGGATCTGACCCTCTGGTCCTAACAAATGTCCCTTAATTCCTAGCATCATCAATGGCTTTGCCCTGCCCCTTAAAGAAGAGCACAAGATGTTCCTCATCCGTGTCCTACTTCCCCTTCACAAGGTCAAGTCCCTGAGTGTCTACCACCCTCAGGTGAGCTGCCTTCCTCCTTATAATGTCCAACTCAGGCAGCAGAGAAAAGAGCCGGCAGGAAAGTGTTCCAGCTGGGATAGGGGAAGCATAGGGAGCAGGTGGGATAATTCCTTCCCTCCATCTCCCCTTCCCTTCTGGGATCTTGTTTCTATCACTGACTTCTCTGAGAGCTTCTAGGACCTACACCTCACCTCCCTTCTACCTCACACCTTTGCAGCTGGCATACTGTGTGGTACAATTCCTGGAGAAGGAGAGCAGTCTGACTGAGCCGGTAATTCCCCTTCCGGGCCCCAAGGCCCACCTCTTACTGTCAGCATCACTTGCCAGTCTGTACCTACTGGGGGTGCCATAAGGGGGAACTCAGGAGGGCTGTGACCTGACCGGTAACATGGTTTCCTCTCTGAAGGGGAAGCAAAACCTATATACACCTAGGAAACAGATCCAAGGCAAAGAAACGGGTAGCTGGCTGAGATCACCCAAACTGTGCCCACCAGGGTGGGGGAGAGAGCAGGTAGGAAAACTTCCTGGTGACCTAGGCAGGTGCAAAGAATTTTCATCCCCATGCCCTCCTTGTCTCCCAGGTAATTGTGGGACTTCTCAAGTTTTGGCCCAAGACCCACAGCCCCAAGGAGGTGATGTTCTTGAATGAGCTGGAGGAGATTCTGGACGTCATTGAACCTTCTGAGTTCAGCAAAGTGATGGAACCCCTCTTCCGCCAGCTGGCCAAGTGTGTCTCTAGCCCCCATTTCCAGGTGAGACTCCAACCTAGCATATCCTAGCCCCTGCCAGAAACTGAGGTCTTGAGTGAAATGAGCAGCACCCACCGAGTCTGCC
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TTTATTAAGCTAAATTTCTAGTAAAGTCCTAAGACATGGGAATGAATTTCTTTCTTTTACCTTTTTAAATTTGAAAATTTTTATCTTTAGAGACAGTGTTGTTTTGTTGTTCAGGCTGGAGTGCAGTTGGTGTGATCATAGCTCATGGGAGACTTGAACTCCTGGGCGCAAGGGATCCTCCAACCTTGAGTAGCTGGAACTCCAGTAAGCTTCCTGAGTAGCTGGAACTGCAGGCATGTGCCACCACACCTGGCTAATTAAAAAAAATTTTTTGTAGAGATGGGGTCTTGCTACGTTGTTCAGGCTGGTTTCAAACTTCTGGCTTCAAGTAATCCTCCTGCTTTGGCTTCCCAAAGTGTTGGGATTACAGGCTTTGGCCACTGTGCCTGGCCTTTCTTTTACCTTTTGTTTTGTTTTTTTTTTTTGAGACAAAGTCTCGCTCTTGTCCCCCAGGCTGGAGTGCAATGGCATGATCTCGGCTCACTGCAACCTCCGCCTCCTGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGATTACAGGCGCCTGCCACCACGCCTGGCTAATGTTTGTATTTTTAGTAGAGATGGGGTTTCACCATGTTGGCCTGGCTGGTCTTGAACTCTTGACCTCAGGTGATCTGCCCTCCTCGGCCTCCCAAAGTGCTGGGATTACAAGTGTGAGCCACTGCGCCCGGCCTCTTCTACCTTTTGATTGGAGACTGTCATACATTCAGTAAAGGATCTTAAGTGTACTGCTCAATAAATTTTAGGTATGTATCTGCCATGCACCACCTTGCAGGTCCAGTCAAGATACAGGATGTTTACATTACTCAGAAGGCTCCTCATGTCTCTTCTTATTCCTCATGTGTCTTCTTATTCATCATGTGTCTTCTTAGCAATACCCACCCCATTTCCCCTGGCAACGTAATCACTTTTTTGACTTCTGTCACCATCAATCTATCAATTAGCTTTACCTGTTCATGAACTGGAATGAACGTTTTAAAGGCTCTTGATGCACAAGCAGTGGGCATCTCTTTGGGTGATGTGACTTCTTGACTGCTCCCTGCCAGGGCTACAGCACAGTTATCTCTGTAACCCTGGCCTTAGCTCCTTCGGGGCAGGAGACAGCTGCTCACTGCCCAGGCCTGTGCAGGCATAAACAGACTTGGGGATGGCCAGGCCCAGGGTGGGAGGCATATCTTGGGAAGTGGATTTCAACAGGTGACTTGTTTGACCAGGCCCAGCCGCAGCCCCAGCCCCAGCCCCAGCCCCAAGCCCAGTCTCAGCCACCGTCATCCAACAAGCGTCCCAGCAATAGCACGCCGCCCCCCACGCAGCTCAGCAAAATCAAGTACTCAGGGGGGCCCCAGATTGTCAAGAAGGAGCGACGGCAAAGCTCCTCCCGCTTCAACCTCAGCAAGAATCGGGAGCTGCAGAAGCTTCCTGCCCTGAAAGGTACTTGGCAATTGGTCACAGGGGCTGTTTTACCAGTTCTAGTGGGCATCGGGAGTTGGTGGAATGGAAGTTTTGGGGTATTTTGCGGGGAAGGGAGTTCCAGAGAATGCGGGAAGGGGGTGCCAGGGAGCAGGATGGTGGCAGGGTGGGGTAAGGGAAAGCCCTTGAAGGCAAGCAGGGCATCGCAGTGAAGGACTACAGAGGAGAACCTGACTGCTGGGGCCCCCACAGATTCGCCAACCCAGGAGCGGGAGGAGCTGTTTATCCAGAAGCTACGCCAGTGCTGTGTCCTCTTTGACTTCGTGTCAGACCCACTCAGTGACCTCAAATTCAAGGAGGTGAAGCGGGCAGGACTCAACGAGATGGTGGAGTACATCACCCATAGCCGTGATGTTGTCACTGAGGCCATTTACCCTGAGGCTGTCACCATGGTGGGCACAGGGAAAGGACACAGGGGGGACTGGTGAGGGGCTCTGGAGAAGCCCAGGTGGAGCTCTAACTGGCCCTACCCCTCAGTTTTCAGTGAACCTCTTCCGGACGCTGCCACCTTCATCGAATCCCACAGGGGCTGAGTTTGACCCAAAGGAAGATGAGCCCACCCTGGAAGCTGCTTGGCCACATCTCCAGGTACCAGGGCAAGGGGGCAGATTGGCCGTGGCTGCAGGGAGTGGGGCACTTGGAGGCCTGCAAGTCCTTGGGAACATCCCCTCAGTGGCGTGCCTTTTCCCCTATAGCTCGTGTATGAGTTCTTCTTACGTTTCCTTGAGTCTCCTGATTTCCAGCCAAACATAGCCAAGAAGTACATCGACCAGAAGTTTGTACTTGCTGTGAGTCCCCGAGTTCCTGTCCTTGCCCTCTCTTTCCATTCCATGCCCCCTTCATCTGTGTCCCAGTGGCTCTTTCCCCTTAAGCTGAATATATTGGGTTTCATCCATGTCTGGTACGAGGAGGCTATAAAGGGTAAAAAACAAAACAAAACAAAACCCTACTCTGGCCTTAAGAAACTAACAACATAATGGTAGGAAACAAAAAAGCAACAGAGTACCTCTCTCAGGTCAATAGTGAGGCATCACTTTGGAAGTCTCAGTACAAATACAATAGAATCAGCAATATAATAGAATCACTGCTTTCTAAGACTTGCTGGCCCCCACTCCAGGGGACCTCTGCATTTCCCCTGGCGGGACCTATGTCACCCTGGCCACTGCCTTCCCTGGCTGCTGCCTCACTGGCTGCTTTCCCTCCCTTGTACCCCCAGCTCCTAGACCTATTTGACAGTGAGGATCCTCGAGAGCGGGACTTCCTCAAGACCATTTTGCATCGCATCTATGGCAAGTTTTTGGGGCTCCGGGCTTATATCCGTAGGCAGATCAACCACATCTTCTACAGGTGAGGCCAGGAGCCCAGGCTTAGGAGCAAAACCTTCTGCTACTGAGGTGGGGTGGGAGCAGGGAGGTGGGGGGACTGTACAGAATGCTGGAGGGACATCAGGGGTTGTCAAGAGAGCCATTTTTCTTCCCTCAGGTTCATCTACGAGACGGAGCATCACAACGGGATTGCTGAGCTCCTGGAGATCCTGGGCAGGTGAGAGGCCGGGTGGGGGCACAGATGCCTGAAAAAGGTTGGCAGGATTGGTGTACTGAACTTGGATCTGACCCTCTGGTCCTAACAAATGTCCCTTAATTCCTAGCATCATCAATGGCTTTGCCCTGCCCCTTAAAGAAGAGCACAAGATGTTCCTCATCCGTGTCCTACTTCCCCTTCACAAGGTCAAGTCCCTGAGTGTCTACCACCCTCAGGTGAGCTGCCTTCCTCCTTATAATGTCCAACTCAGGCAGCAGAGAAAAGAGCCGGCAGGAAAGTGTTCCAGCTGGGATAGGGGAAGCATAGGGAGCAGGTGGGATAATTCCTTCCCTCCATCTCCCCTTCCCTTCTGGGATCTTGTTTCTATCACTGACTTCTCTGAGAGCTTCTAGGACCTACACCTCACCTCCCTTCTACCTCACACCTTTGCAGCTGGCATACTGTGTGGTACAATTCCTGGAGAAGGAGAGCAGTCTGACTGAGCCGGTAATTCCCCTTCCGGGCCCCAAGGCCCACCTCTTACTGTCAGCATCACTTGCCAGTCTGTACCTACTGGGGGTGCCATAAGGGGGAACTCAGGAGGGCTGTGACCTGACCGGTAACATGGTTTCCTCTCTGAAGGGGAAGCAAAACCTATATACACCTAGGAAACAGATCCAAGGCAAAGAAACGGGTAGCTGGCTGAGATCACCCAAACTGTGCCCACCAGGGTGGGGGAGAGAGCAGGTAGGAAAACTTCCTGGTGACCTAGGCAGGTGCAAAGAATTTTCATCCCCATGCCCTCCTTGTCTCCCAGGTAATTGTGGGACTTCTCAAGTTTTGGCCCAAGACCCACAGCCCCAAGGAGGTGATGTTCTTGAATGAGCTGGAGGAGATTCTGGACGTCATTGAACCTTCTGAGTTCAGCAAAGTGATGGAACCCCTCTTCCGCCAGCTGGCCAAGTGTGTCTCTAGCCCCCATTTCCAGGTGAGACTCCAACCTAGCATATCCTAGCCCCTGCCAGAAACTGAGGTCTTGAGTGAAATGAGCAGCACCCACCGAGTCTGCC
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Task1_train_10356
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A variant affecting Chromosome 6, within the gene MEA1, PPP2R5D (male-enhanced antigen 1| protein phosphatase 2 regulatory subunit B'delta), has been observed. Determine if it's benign or associated with disease.
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Pathogenic; Global developmental delay
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ATTAAGCTAAATTTCTAGTAAAGTCCTAAGACATGGGAATGAATTTCTTTCTTTTACCTTTTTAAATTTGAAAATTTTTATCTTTAGAGACAGTGTTGTTTTGTTGTTCAGGCTGGAGTGCAGTTGGTGTGATCATAGCTCATGGGAGACTTGAACTCCTGGGCGCAAGGGATCCTCCAACCTTGAGTAGCTGGAACTCCAGTAAGCTTCCTGAGTAGCTGGAACTGCAGGCATGTGCCACCACACCTGGCTAATTAAAAAAAATTTTTTGTAGAGATGGGGTCTTGCTACGTTGTTCAGGCTGGTTTCAAACTTCTGGCTTCAAGTAATCCTCCTGCTTTGGCTTCCCAAAGTGTTGGGATTACAGGCTTTGGCCACTGTGCCTGGCCTTTCTTTTACCTTTTGTTTTGTTTTTTTTTTTTGAGACAAAGTCTCGCTCTTGTCCCCCAGGCTGGAGTGCAATGGCATGATCTCGGCTCACTGCAACCTCCGCCTCCTGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGATTACAGGCGCCTGCCACCACGCCTGGCTAATGTTTGTATTTTTAGTAGAGATGGGGTTTCACCATGTTGGCCTGGCTGGTCTTGAACTCTTGACCTCAGGTGATCTGCCCTCCTCGGCCTCCCAAAGTGCTGGGATTACAAGTGTGAGCCACTGCGCCCGGCCTCTTCTACCTTTTGATTGGAGACTGTCATACATTCAGTAAAGGATCTTAAGTGTACTGCTCAATAAATTTTAGGTATGTATCTGCCATGCACCACCTTGCAGGTCCAGTCAAGATACAGGATGTTTACATTACTCAGAAGGCTCCTCATGTCTCTTCTTATTCCTCATGTGTCTTCTTATTCATCATGTGTCTTCTTAGCAATACCCACCCCATTTCCCCTGGCAACGTAATCACTTTTTTGACTTCTGTCACCATCAATCTATCAATTAGCTTTACCTGTTCATGAACTGGAATGAACGTTTTAAAGGCTCTTGATGCACAAGCAGTGGGCATCTCTTTGGGTGATGTGACTTCTTGACTGCTCCCTGCCAGGGCTACAGCACAGTTATCTCTGTAACCCTGGCCTTAGCTCCTTCGGGGCAGGAGACAGCTGCTCACTGCCCAGGCCTGTGCAGGCATAAACAGACTTGGGGATGGCCAGGCCCAGGGTGGGAGGCATATCTTGGGAAGTGGATTTCAACAGGTGACTTGTTTGACCAGGCCCAGCCGCAGCCCCAGCCCCAGCCCCAGCCCCAAGCCCAGTCTCAGCCACCGTCATCCAACAAGCGTCCCAGCAATAGCACGCCGCCCCCCACGCAGCTCAGCAAAATCAAGTACTCAGGGGGGCCCCAGATTGTCAAGAAGGAGCGACGGCAAAGCTCCTCCCGCTTCAACCTCAGCAAGAATCGGGAGCTGCAGAAGCTTCCTGCCCTGAAAGGTACTTGGCAATTGGTCACAGGGGCTGTTTTACCAGTTCTAGTGGGCATCGGGAGTTGGTGGAATGGAAGTTTTGGGGTATTTTGCGGGGAAGGGAGTTCCAGAGAATGCGGGAAGGGGGTGCCAGGGAGCAGGATGGTGGCAGGGTGGGGTAAGGGAAAGCCCTTGAAGGCAAGCAGGGCATCGCAGTGAAGGACTACAGAGGAGAACCTGACTGCTGGGGCCCCCACAGATTCGCCAACCCAGGAGCGGGAGGAGCTGTTTATCCAGAAGCTACGCCAGTGCTGTGTCCTCTTTGACTTCGTGTCAGACCCACTCAGTGACCTCAAATTCAAGGAGGTGAAGCGGGCAGGACTCAACGAGATGGTGGAGTACATCACCCATAGCCGTGATGTTGTCACTGAGGCCATTTACCCTGAGGCTGTCACCATGGTGGGCACAGGGAAAGGACACAGGGGGGACTGGTGAGGGGCTCTGGAGAAGCCCAGGTGGAGCTCTAACTGGCCCTACCCCTCAGTTTTCAGTGAACCTCTTCCGGACGCTGCCACCTTCATCGAATCCCACAGGGGCTGAGTTTGACCCAGAGGAAGATGAGCCCACCCTGGAAGCTGCTTGGCCACATCTCCAGGTACCAGGGCAAGGGGGCAGATTGGCCGTGGCTGCAGGGAGTGGGGCACTTGGAGGCCTGCAAGTCCTTGGGAACATCCCCTCAGTGGCGTGCCTTTTCCCCTATAGCTCGTGTATGAGTTCTTCTTACGTTTCCTTGAGTCTCCTGATTTCCAGCCAAACATAGCCAAGAAGTACATCGACCAGAAGTTTGTACTTGCTGTGAGTCCCCGAGTTCCTGTCCTTGCCCTCTCTTTCCATTCCATGCCCCCTTCATCTGTGTCCCAGTGGCTCTTTCCCCTTAAGCTGAATATATTGGGTTTCATCCATGTCTGGTACGAGGAGGCTATAAAGGGTAAAAAACAAAACAAAACAAAACCCTACTCTGGCCTTAAGAAACTAACAACATAATGGTAGGAAACAAAAAAGCAACAGAGTACCTCTCTCAGGTCAATAGTGAGGCATCACTTTGGAAGTCTCAGTACAAATACAATAGAATCAGCAATATAATAGAATCACTGCTTTCTAAGACTTGCTGGCCCCCACTCCAGGGGACCTCTGCATTTCCCCTGGCGGGACCTATGTCACCCTGGCCACTGCCTTCCCTGGCTGCTGCCTCACTGGCTGCTTTCCCTCCCTTGTACCCCCAGCTCCTAGACCTATTTGACAGTGAGGATCCTCGAGAGCGGGACTTCCTCAAGACCATTTTGCATCGCATCTATGGCAAGTTTTTGGGGCTCCGGGCTTATATCCGTAGGCAGATCAACCACATCTTCTACAGGTGAGGCCAGGAGCCCAGGCTTAGGAGCAAAACCTTCTGCTACTGAGGTGGGGTGGGAGCAGGGAGGTGGGGGGACTGTACAGAATGCTGGAGGGACATCAGGGGTTGTCAAGAGAGCCATTTTTCTTCCCTCAGGTTCATCTACGAGACGGAGCATCACAACGGGATTGCTGAGCTCCTGGAGATCCTGGGCAGGTGAGAGGCCGGGTGGGGGCACAGATGCCTGAAAAAGGTTGGCAGGATTGGTGTACTGAACTTGGATCTGACCCTCTGGTCCTAACAAATGTCCCTTAATTCCTAGCATCATCAATGGCTTTGCCCTGCCCCTTAAAGAAGAGCACAAGATGTTCCTCATCCGTGTCCTACTTCCCCTTCACAAGGTCAAGTCCCTGAGTGTCTACCACCCTCAGGTGAGCTGCCTTCCTCCTTATAATGTCCAACTCAGGCAGCAGAGAAAAGAGCCGGCAGGAAAGTGTTCCAGCTGGGATAGGGGAAGCATAGGGAGCAGGTGGGATAATTCCTTCCCTCCATCTCCCCTTCCCTTCTGGGATCTTGTTTCTATCACTGACTTCTCTGAGAGCTTCTAGGACCTACACCTCACCTCCCTTCTACCTCACACCTTTGCAGCTGGCATACTGTGTGGTACAATTCCTGGAGAAGGAGAGCAGTCTGACTGAGCCGGTAATTCCCCTTCCGGGCCCCAAGGCCCACCTCTTACTGTCAGCATCACTTGCCAGTCTGTACCTACTGGGGGTGCCATAAGGGGGAACTCAGGAGGGCTGTGACCTGACCGGTAACATGGTTTCCTCTCTGAAGGGGAAGCAAAACCTATATACACCTAGGAAACAGATCCAAGGCAAAGAAACGGGTAGCTGGCTGAGATCACCCAAACTGTGCCCACCAGGGTGGGGGAGAGAGCAGGTAGGAAAACTTCCTGGTGACCTAGGCAGGTGCAAAGAATTTTCATCCCCATGCCCTCCTTGTCTCCCAGGTAATTGTGGGACTTCTCAAGTTTTGGCCCAAGACCCACAGCCCCAAGGAGGTGATGTTCTTGAATGAGCTGGAGGAGATTCTGGACGTCATTGAACCTTCTGAGTTCAGCAAAGTGATGGAACCCCTCTTCCGCCAGCTGGCCAAGTGTGTCTCTAGCCCCCATTTCCAGGTGAGACTCCAACCTAGCATATCCTAGCCCCTGCCAGAAACTGAGGTCTTGAGTGAAATGAGCAGCACCCACCGAGTCTGCCTCT
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ATTAAGCTAAATTTCTAGTAAAGTCCTAAGACATGGGAATGAATTTCTTTCTTTTACCTTTTTAAATTTGAAAATTTTTATCTTTAGAGACAGTGTTGTTTTGTTGTTCAGGCTGGAGTGCAGTTGGTGTGATCATAGCTCATGGGAGACTTGAACTCCTGGGCGCAAGGGATCCTCCAACCTTGAGTAGCTGGAACTCCAGTAAGCTTCCTGAGTAGCTGGAACTGCAGGCATGTGCCACCACACCTGGCTAATTAAAAAAAATTTTTTGTAGAGATGGGGTCTTGCTACGTTGTTCAGGCTGGTTTCAAACTTCTGGCTTCAAGTAATCCTCCTGCTTTGGCTTCCCAAAGTGTTGGGATTACAGGCTTTGGCCACTGTGCCTGGCCTTTCTTTTACCTTTTGTTTTGTTTTTTTTTTTTGAGACAAAGTCTCGCTCTTGTCCCCCAGGCTGGAGTGCAATGGCATGATCTCGGCTCACTGCAACCTCCGCCTCCTGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGATTACAGGCGCCTGCCACCACGCCTGGCTAATGTTTGTATTTTTAGTAGAGATGGGGTTTCACCATGTTGGCCTGGCTGGTCTTGAACTCTTGACCTCAGGTGATCTGCCCTCCTCGGCCTCCCAAAGTGCTGGGATTACAAGTGTGAGCCACTGCGCCCGGCCTCTTCTACCTTTTGATTGGAGACTGTCATACATTCAGTAAAGGATCTTAAGTGTACTGCTCAATAAATTTTAGGTATGTATCTGCCATGCACCACCTTGCAGGTCCAGTCAAGATACAGGATGTTTACATTACTCAGAAGGCTCCTCATGTCTCTTCTTATTCCTCATGTGTCTTCTTATTCATCATGTGTCTTCTTAGCAATACCCACCCCATTTCCCCTGGCAACGTAATCACTTTTTTGACTTCTGTCACCATCAATCTATCAATTAGCTTTACCTGTTCATGAACTGGAATGAACGTTTTAAAGGCTCTTGATGCACAAGCAGTGGGCATCTCTTTGGGTGATGTGACTTCTTGACTGCTCCCTGCCAGGGCTACAGCACAGTTATCTCTGTAACCCTGGCCTTAGCTCCTTCGGGGCAGGAGACAGCTGCTCACTGCCCAGGCCTGTGCAGGCATAAACAGACTTGGGGATGGCCAGGCCCAGGGTGGGAGGCATATCTTGGGAAGTGGATTTCAACAGGTGACTTGTTTGACCAGGCCCAGCCGCAGCCCCAGCCCCAGCCCCAGCCCCAAGCCCAGTCTCAGCCACCGTCATCCAACAAGCGTCCCAGCAATAGCACGCCGCCCCCCACGCAGCTCAGCAAAATCAAGTACTCAGGGGGGCCCCAGATTGTCAAGAAGGAGCGACGGCAAAGCTCCTCCCGCTTCAACCTCAGCAAGAATCGGGAGCTGCAGAAGCTTCCTGCCCTGAAAGGTACTTGGCAATTGGTCACAGGGGCTGTTTTACCAGTTCTAGTGGGCATCGGGAGTTGGTGGAATGGAAGTTTTGGGGTATTTTGCGGGGAAGGGAGTTCCAGAGAATGCGGGAAGGGGGTGCCAGGGAGCAGGATGGTGGCAGGGTGGGGTAAGGGAAAGCCCTTGAAGGCAAGCAGGGCATCGCAGTGAAGGACTACAGAGGAGAACCTGACTGCTGGGGCCCCCACAGATTCGCCAACCCAGGAGCGGGAGGAGCTGTTTATCCAGAAGCTACGCCAGTGCTGTGTCCTCTTTGACTTCGTGTCAGACCCACTCAGTGACCTCAAATTCAAGGAGGTGAAGCGGGCAGGACTCAACGAGATGGTGGAGTACATCACCCATAGCCGTGATGTTGTCACTGAGGCCATTTACCCTGAGGCTGTCACCATGGTGGGCACAGGGAAAGGACACAGGGGGGACTGGTGAGGGGCTCTGGAGAAGCCCAGGTGGAGCTCTAACTGGCCCTACCCCTCAGTTTTCAGTGAACCTCTTCCGGACGCTGCCACCTTCATCGAATCCCACAGGGGCTGAGTTTGACCCAGAGAAAGATGAGCCCACCCTGGAAGCTGCTTGGCCACATCTCCAGGTACCAGGGCAAGGGGGCAGATTGGCCGTGGCTGCAGGGAGTGGGGCACTTGGAGGCCTGCAAGTCCTTGGGAACATCCCCTCAGTGGCGTGCCTTTTCCCCTATAGCTCGTGTATGAGTTCTTCTTACGTTTCCTTGAGTCTCCTGATTTCCAGCCAAACATAGCCAAGAAGTACATCGACCAGAAGTTTGTACTTGCTGTGAGTCCCCGAGTTCCTGTCCTTGCCCTCTCTTTCCATTCCATGCCCCCTTCATCTGTGTCCCAGTGGCTCTTTCCCCTTAAGCTGAATATATTGGGTTTCATCCATGTCTGGTACGAGGAGGCTATAAAGGGTAAAAAACAAAACAAAACAAAACCCTACTCTGGCCTTAAGAAACTAACAACATAATGGTAGGAAACAAAAAAGCAACAGAGTACCTCTCTCAGGTCAATAGTGAGGCATCACTTTGGAAGTCTCAGTACAAATACAATAGAATCAGCAATATAATAGAATCACTGCTTTCTAAGACTTGCTGGCCCCCACTCCAGGGGACCTCTGCATTTCCCCTGGCGGGACCTATGTCACCCTGGCCACTGCCTTCCCTGGCTGCTGCCTCACTGGCTGCTTTCCCTCCCTTGTACCCCCAGCTCCTAGACCTATTTGACAGTGAGGATCCTCGAGAGCGGGACTTCCTCAAGACCATTTTGCATCGCATCTATGGCAAGTTTTTGGGGCTCCGGGCTTATATCCGTAGGCAGATCAACCACATCTTCTACAGGTGAGGCCAGGAGCCCAGGCTTAGGAGCAAAACCTTCTGCTACTGAGGTGGGGTGGGAGCAGGGAGGTGGGGGGACTGTACAGAATGCTGGAGGGACATCAGGGGTTGTCAAGAGAGCCATTTTTCTTCCCTCAGGTTCATCTACGAGACGGAGCATCACAACGGGATTGCTGAGCTCCTGGAGATCCTGGGCAGGTGAGAGGCCGGGTGGGGGCACAGATGCCTGAAAAAGGTTGGCAGGATTGGTGTACTGAACTTGGATCTGACCCTCTGGTCCTAACAAATGTCCCTTAATTCCTAGCATCATCAATGGCTTTGCCCTGCCCCTTAAAGAAGAGCACAAGATGTTCCTCATCCGTGTCCTACTTCCCCTTCACAAGGTCAAGTCCCTGAGTGTCTACCACCCTCAGGTGAGCTGCCTTCCTCCTTATAATGTCCAACTCAGGCAGCAGAGAAAAGAGCCGGCAGGAAAGTGTTCCAGCTGGGATAGGGGAAGCATAGGGAGCAGGTGGGATAATTCCTTCCCTCCATCTCCCCTTCCCTTCTGGGATCTTGTTTCTATCACTGACTTCTCTGAGAGCTTCTAGGACCTACACCTCACCTCCCTTCTACCTCACACCTTTGCAGCTGGCATACTGTGTGGTACAATTCCTGGAGAAGGAGAGCAGTCTGACTGAGCCGGTAATTCCCCTTCCGGGCCCCAAGGCCCACCTCTTACTGTCAGCATCACTTGCCAGTCTGTACCTACTGGGGGTGCCATAAGGGGGAACTCAGGAGGGCTGTGACCTGACCGGTAACATGGTTTCCTCTCTGAAGGGGAAGCAAAACCTATATACACCTAGGAAACAGATCCAAGGCAAAGAAACGGGTAGCTGGCTGAGATCACCCAAACTGTGCCCACCAGGGTGGGGGAGAGAGCAGGTAGGAAAACTTCCTGGTGACCTAGGCAGGTGCAAAGAATTTTCATCCCCATGCCCTCCTTGTCTCCCAGGTAATTGTGGGACTTCTCAAGTTTTGGCCCAAGACCCACAGCCCCAAGGAGGTGATGTTCTTGAATGAGCTGGAGGAGATTCTGGACGTCATTGAACCTTCTGAGTTCAGCAAAGTGATGGAACCCCTCTTCCGCCAGCTGGCCAAGTGTGTCTCTAGCCCCCATTTCCAGGTGAGACTCCAACCTAGCATATCCTAGCCCCTGCCAGAAACTGAGGTCTTGAGTGAAATGAGCAGCACCCACCGAGTCTGCCTCT
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Task1_train_10357
|
This alteration in MEA1, PPP2R5D (male-enhanced antigen 1| protein phosphatase 2 regulatory subunit B'delta) on Chromosome 6 may affect gene function. Does it lead to a disease or is it benign?
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Pathogenic; Intellectual disability
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ATTAAGCTAAATTTCTAGTAAAGTCCTAAGACATGGGAATGAATTTCTTTCTTTTACCTTTTTAAATTTGAAAATTTTTATCTTTAGAGACAGTGTTGTTTTGTTGTTCAGGCTGGAGTGCAGTTGGTGTGATCATAGCTCATGGGAGACTTGAACTCCTGGGCGCAAGGGATCCTCCAACCTTGAGTAGCTGGAACTCCAGTAAGCTTCCTGAGTAGCTGGAACTGCAGGCATGTGCCACCACACCTGGCTAATTAAAAAAAATTTTTTGTAGAGATGGGGTCTTGCTACGTTGTTCAGGCTGGTTTCAAACTTCTGGCTTCAAGTAATCCTCCTGCTTTGGCTTCCCAAAGTGTTGGGATTACAGGCTTTGGCCACTGTGCCTGGCCTTTCTTTTACCTTTTGTTTTGTTTTTTTTTTTTGAGACAAAGTCTCGCTCTTGTCCCCCAGGCTGGAGTGCAATGGCATGATCTCGGCTCACTGCAACCTCCGCCTCCTGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGATTACAGGCGCCTGCCACCACGCCTGGCTAATGTTTGTATTTTTAGTAGAGATGGGGTTTCACCATGTTGGCCTGGCTGGTCTTGAACTCTTGACCTCAGGTGATCTGCCCTCCTCGGCCTCCCAAAGTGCTGGGATTACAAGTGTGAGCCACTGCGCCCGGCCTCTTCTACCTTTTGATTGGAGACTGTCATACATTCAGTAAAGGATCTTAAGTGTACTGCTCAATAAATTTTAGGTATGTATCTGCCATGCACCACCTTGCAGGTCCAGTCAAGATACAGGATGTTTACATTACTCAGAAGGCTCCTCATGTCTCTTCTTATTCCTCATGTGTCTTCTTATTCATCATGTGTCTTCTTAGCAATACCCACCCCATTTCCCCTGGCAACGTAATCACTTTTTTGACTTCTGTCACCATCAATCTATCAATTAGCTTTACCTGTTCATGAACTGGAATGAACGTTTTAAAGGCTCTTGATGCACAAGCAGTGGGCATCTCTTTGGGTGATGTGACTTCTTGACTGCTCCCTGCCAGGGCTACAGCACAGTTATCTCTGTAACCCTGGCCTTAGCTCCTTCGGGGCAGGAGACAGCTGCTCACTGCCCAGGCCTGTGCAGGCATAAACAGACTTGGGGATGGCCAGGCCCAGGGTGGGAGGCATATCTTGGGAAGTGGATTTCAACAGGTGACTTGTTTGACCAGGCCCAGCCGCAGCCCCAGCCCCAGCCCCAGCCCCAAGCCCAGTCTCAGCCACCGTCATCCAACAAGCGTCCCAGCAATAGCACGCCGCCCCCCACGCAGCTCAGCAAAATCAAGTACTCAGGGGGGCCCCAGATTGTCAAGAAGGAGCGACGGCAAAGCTCCTCCCGCTTCAACCTCAGCAAGAATCGGGAGCTGCAGAAGCTTCCTGCCCTGAAAGGTACTTGGCAATTGGTCACAGGGGCTGTTTTACCAGTTCTAGTGGGCATCGGGAGTTGGTGGAATGGAAGTTTTGGGGTATTTTGCGGGGAAGGGAGTTCCAGAGAATGCGGGAAGGGGGTGCCAGGGAGCAGGATGGTGGCAGGGTGGGGTAAGGGAAAGCCCTTGAAGGCAAGCAGGGCATCGCAGTGAAGGACTACAGAGGAGAACCTGACTGCTGGGGCCCCCACAGATTCGCCAACCCAGGAGCGGGAGGAGCTGTTTATCCAGAAGCTACGCCAGTGCTGTGTCCTCTTTGACTTCGTGTCAGACCCACTCAGTGACCTCAAATTCAAGGAGGTGAAGCGGGCAGGACTCAACGAGATGGTGGAGTACATCACCCATAGCCGTGATGTTGTCACTGAGGCCATTTACCCTGAGGCTGTCACCATGGTGGGCACAGGGAAAGGACACAGGGGGGACTGGTGAGGGGCTCTGGAGAAGCCCAGGTGGAGCTCTAACTGGCCCTACCCCTCAGTTTTCAGTGAACCTCTTCCGGACGCTGCCACCTTCATCGAATCCCACAGGGGCTGAGTTTGACCCAGAGGAAGATGAGCCCACCCTGGAAGCTGCTTGGCCACATCTCCAGGTACCAGGGCAAGGGGGCAGATTGGCCGTGGCTGCAGGGAGTGGGGCACTTGGAGGCCTGCAAGTCCTTGGGAACATCCCCTCAGTGGCGTGCCTTTTCCCCTATAGCTCGTGTATGAGTTCTTCTTACGTTTCCTTGAGTCTCCTGATTTCCAGCCAAACATAGCCAAGAAGTACATCGACCAGAAGTTTGTACTTGCTGTGAGTCCCCGAGTTCCTGTCCTTGCCCTCTCTTTCCATTCCATGCCCCCTTCATCTGTGTCCCAGTGGCTCTTTCCCCTTAAGCTGAATATATTGGGTTTCATCCATGTCTGGTACGAGGAGGCTATAAAGGGTAAAAAACAAAACAAAACAAAACCCTACTCTGGCCTTAAGAAACTAACAACATAATGGTAGGAAACAAAAAAGCAACAGAGTACCTCTCTCAGGTCAATAGTGAGGCATCACTTTGGAAGTCTCAGTACAAATACAATAGAATCAGCAATATAATAGAATCACTGCTTTCTAAGACTTGCTGGCCCCCACTCCAGGGGACCTCTGCATTTCCCCTGGCGGGACCTATGTCACCCTGGCCACTGCCTTCCCTGGCTGCTGCCTCACTGGCTGCTTTCCCTCCCTTGTACCCCCAGCTCCTAGACCTATTTGACAGTGAGGATCCTCGAGAGCGGGACTTCCTCAAGACCATTTTGCATCGCATCTATGGCAAGTTTTTGGGGCTCCGGGCTTATATCCGTAGGCAGATCAACCACATCTTCTACAGGTGAGGCCAGGAGCCCAGGCTTAGGAGCAAAACCTTCTGCTACTGAGGTGGGGTGGGAGCAGGGAGGTGGGGGGACTGTACAGAATGCTGGAGGGACATCAGGGGTTGTCAAGAGAGCCATTTTTCTTCCCTCAGGTTCATCTACGAGACGGAGCATCACAACGGGATTGCTGAGCTCCTGGAGATCCTGGGCAGGTGAGAGGCCGGGTGGGGGCACAGATGCCTGAAAAAGGTTGGCAGGATTGGTGTACTGAACTTGGATCTGACCCTCTGGTCCTAACAAATGTCCCTTAATTCCTAGCATCATCAATGGCTTTGCCCTGCCCCTTAAAGAAGAGCACAAGATGTTCCTCATCCGTGTCCTACTTCCCCTTCACAAGGTCAAGTCCCTGAGTGTCTACCACCCTCAGGTGAGCTGCCTTCCTCCTTATAATGTCCAACTCAGGCAGCAGAGAAAAGAGCCGGCAGGAAAGTGTTCCAGCTGGGATAGGGGAAGCATAGGGAGCAGGTGGGATAATTCCTTCCCTCCATCTCCCCTTCCCTTCTGGGATCTTGTTTCTATCACTGACTTCTCTGAGAGCTTCTAGGACCTACACCTCACCTCCCTTCTACCTCACACCTTTGCAGCTGGCATACTGTGTGGTACAATTCCTGGAGAAGGAGAGCAGTCTGACTGAGCCGGTAATTCCCCTTCCGGGCCCCAAGGCCCACCTCTTACTGTCAGCATCACTTGCCAGTCTGTACCTACTGGGGGTGCCATAAGGGGGAACTCAGGAGGGCTGTGACCTGACCGGTAACATGGTTTCCTCTCTGAAGGGGAAGCAAAACCTATATACACCTAGGAAACAGATCCAAGGCAAAGAAACGGGTAGCTGGCTGAGATCACCCAAACTGTGCCCACCAGGGTGGGGGAGAGAGCAGGTAGGAAAACTTCCTGGTGACCTAGGCAGGTGCAAAGAATTTTCATCCCCATGCCCTCCTTGTCTCCCAGGTAATTGTGGGACTTCTCAAGTTTTGGCCCAAGACCCACAGCCCCAAGGAGGTGATGTTCTTGAATGAGCTGGAGGAGATTCTGGACGTCATTGAACCTTCTGAGTTCAGCAAAGTGATGGAACCCCTCTTCCGCCAGCTGGCCAAGTGTGTCTCTAGCCCCCATTTCCAGGTGAGACTCCAACCTAGCATATCCTAGCCCCTGCCAGAAACTGAGGTCTTGAGTGAAATGAGCAGCACCCACCGAGTCTGCCTCT
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ATTAAGCTAAATTTCTAGTAAAGTCCTAAGACATGGGAATGAATTTCTTTCTTTTACCTTTTTAAATTTGAAAATTTTTATCTTTAGAGACAGTGTTGTTTTGTTGTTCAGGCTGGAGTGCAGTTGGTGTGATCATAGCTCATGGGAGACTTGAACTCCTGGGCGCAAGGGATCCTCCAACCTTGAGTAGCTGGAACTCCAGTAAGCTTCCTGAGTAGCTGGAACTGCAGGCATGTGCCACCACACCTGGCTAATTAAAAAAAATTTTTTGTAGAGATGGGGTCTTGCTACGTTGTTCAGGCTGGTTTCAAACTTCTGGCTTCAAGTAATCCTCCTGCTTTGGCTTCCCAAAGTGTTGGGATTACAGGCTTTGGCCACTGTGCCTGGCCTTTCTTTTACCTTTTGTTTTGTTTTTTTTTTTTGAGACAAAGTCTCGCTCTTGTCCCCCAGGCTGGAGTGCAATGGCATGATCTCGGCTCACTGCAACCTCCGCCTCCTGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGATTACAGGCGCCTGCCACCACGCCTGGCTAATGTTTGTATTTTTAGTAGAGATGGGGTTTCACCATGTTGGCCTGGCTGGTCTTGAACTCTTGACCTCAGGTGATCTGCCCTCCTCGGCCTCCCAAAGTGCTGGGATTACAAGTGTGAGCCACTGCGCCCGGCCTCTTCTACCTTTTGATTGGAGACTGTCATACATTCAGTAAAGGATCTTAAGTGTACTGCTCAATAAATTTTAGGTATGTATCTGCCATGCACCACCTTGCAGGTCCAGTCAAGATACAGGATGTTTACATTACTCAGAAGGCTCCTCATGTCTCTTCTTATTCCTCATGTGTCTTCTTATTCATCATGTGTCTTCTTAGCAATACCCACCCCATTTCCCCTGGCAACGTAATCACTTTTTTGACTTCTGTCACCATCAATCTATCAATTAGCTTTACCTGTTCATGAACTGGAATGAACGTTTTAAAGGCTCTTGATGCACAAGCAGTGGGCATCTCTTTGGGTGATGTGACTTCTTGACTGCTCCCTGCCAGGGCTACAGCACAGTTATCTCTGTAACCCTGGCCTTAGCTCCTTCGGGGCAGGAGACAGCTGCTCACTGCCCAGGCCTGTGCAGGCATAAACAGACTTGGGGATGGCCAGGCCCAGGGTGGGAGGCATATCTTGGGAAGTGGATTTCAACAGGTGACTTGTTTGACCAGGCCCAGCCGCAGCCCCAGCCCCAGCCCCAGCCCCAAGCCCAGTCTCAGCCACCGTCATCCAACAAGCGTCCCAGCAATAGCACGCCGCCCCCCACGCAGCTCAGCAAAATCAAGTACTCAGGGGGGCCCCAGATTGTCAAGAAGGAGCGACGGCAAAGCTCCTCCCGCTTCAACCTCAGCAAGAATCGGGAGCTGCAGAAGCTTCCTGCCCTGAAAGGTACTTGGCAATTGGTCACAGGGGCTGTTTTACCAGTTCTAGTGGGCATCGGGAGTTGGTGGAATGGAAGTTTTGGGGTATTTTGCGGGGAAGGGAGTTCCAGAGAATGCGGGAAGGGGGTGCCAGGGAGCAGGATGGTGGCAGGGTGGGGTAAGGGAAAGCCCTTGAAGGCAAGCAGGGCATCGCAGTGAAGGACTACAGAGGAGAACCTGACTGCTGGGGCCCCCACAGATTCGCCAACCCAGGAGCGGGAGGAGCTGTTTATCCAGAAGCTACGCCAGTGCTGTGTCCTCTTTGACTTCGTGTCAGACCCACTCAGTGACCTCAAATTCAAGGAGGTGAAGCGGGCAGGACTCAACGAGATGGTGGAGTACATCACCCATAGCCGTGATGTTGTCACTGAGGCCATTTACCCTGAGGCTGTCACCATGGTGGGCACAGGGAAAGGACACAGGGGGGACTGGTGAGGGGCTCTGGAGAAGCCCAGGTGGAGCTCTAACTGGCCCTACCCCTCAGTTTTCAGTGAACCTCTTCCGGACGCTGCCACCTTCATCGAATCCCACAGGGGCTGAGTTTGACCCAGAGAAAGATGAGCCCACCCTGGAAGCTGCTTGGCCACATCTCCAGGTACCAGGGCAAGGGGGCAGATTGGCCGTGGCTGCAGGGAGTGGGGCACTTGGAGGCCTGCAAGTCCTTGGGAACATCCCCTCAGTGGCGTGCCTTTTCCCCTATAGCTCGTGTATGAGTTCTTCTTACGTTTCCTTGAGTCTCCTGATTTCCAGCCAAACATAGCCAAGAAGTACATCGACCAGAAGTTTGTACTTGCTGTGAGTCCCCGAGTTCCTGTCCTTGCCCTCTCTTTCCATTCCATGCCCCCTTCATCTGTGTCCCAGTGGCTCTTTCCCCTTAAGCTGAATATATTGGGTTTCATCCATGTCTGGTACGAGGAGGCTATAAAGGGTAAAAAACAAAACAAAACAAAACCCTACTCTGGCCTTAAGAAACTAACAACATAATGGTAGGAAACAAAAAAGCAACAGAGTACCTCTCTCAGGTCAATAGTGAGGCATCACTTTGGAAGTCTCAGTACAAATACAATAGAATCAGCAATATAATAGAATCACTGCTTTCTAAGACTTGCTGGCCCCCACTCCAGGGGACCTCTGCATTTCCCCTGGCGGGACCTATGTCACCCTGGCCACTGCCTTCCCTGGCTGCTGCCTCACTGGCTGCTTTCCCTCCCTTGTACCCCCAGCTCCTAGACCTATTTGACAGTGAGGATCCTCGAGAGCGGGACTTCCTCAAGACCATTTTGCATCGCATCTATGGCAAGTTTTTGGGGCTCCGGGCTTATATCCGTAGGCAGATCAACCACATCTTCTACAGGTGAGGCCAGGAGCCCAGGCTTAGGAGCAAAACCTTCTGCTACTGAGGTGGGGTGGGAGCAGGGAGGTGGGGGGACTGTACAGAATGCTGGAGGGACATCAGGGGTTGTCAAGAGAGCCATTTTTCTTCCCTCAGGTTCATCTACGAGACGGAGCATCACAACGGGATTGCTGAGCTCCTGGAGATCCTGGGCAGGTGAGAGGCCGGGTGGGGGCACAGATGCCTGAAAAAGGTTGGCAGGATTGGTGTACTGAACTTGGATCTGACCCTCTGGTCCTAACAAATGTCCCTTAATTCCTAGCATCATCAATGGCTTTGCCCTGCCCCTTAAAGAAGAGCACAAGATGTTCCTCATCCGTGTCCTACTTCCCCTTCACAAGGTCAAGTCCCTGAGTGTCTACCACCCTCAGGTGAGCTGCCTTCCTCCTTATAATGTCCAACTCAGGCAGCAGAGAAAAGAGCCGGCAGGAAAGTGTTCCAGCTGGGATAGGGGAAGCATAGGGAGCAGGTGGGATAATTCCTTCCCTCCATCTCCCCTTCCCTTCTGGGATCTTGTTTCTATCACTGACTTCTCTGAGAGCTTCTAGGACCTACACCTCACCTCCCTTCTACCTCACACCTTTGCAGCTGGCATACTGTGTGGTACAATTCCTGGAGAAGGAGAGCAGTCTGACTGAGCCGGTAATTCCCCTTCCGGGCCCCAAGGCCCACCTCTTACTGTCAGCATCACTTGCCAGTCTGTACCTACTGGGGGTGCCATAAGGGGGAACTCAGGAGGGCTGTGACCTGACCGGTAACATGGTTTCCTCTCTGAAGGGGAAGCAAAACCTATATACACCTAGGAAACAGATCCAAGGCAAAGAAACGGGTAGCTGGCTGAGATCACCCAAACTGTGCCCACCAGGGTGGGGGAGAGAGCAGGTAGGAAAACTTCCTGGTGACCTAGGCAGGTGCAAAGAATTTTCATCCCCATGCCCTCCTTGTCTCCCAGGTAATTGTGGGACTTCTCAAGTTTTGGCCCAAGACCCACAGCCCCAAGGAGGTGATGTTCTTGAATGAGCTGGAGGAGATTCTGGACGTCATTGAACCTTCTGAGTTCAGCAAAGTGATGGAACCCCTCTTCCGCCAGCTGGCCAAGTGTGTCTCTAGCCCCCATTTCCAGGTGAGACTCCAACCTAGCATATCCTAGCCCCTGCCAGAAACTGAGGTCTTGAGTGAAATGAGCAGCACCCACCGAGTCTGCCTCT
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Task1_train_10358
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This variant lies on Chromosome 6 and affects the gene MEA1, PPP2R5D (male-enhanced antigen 1| protein phosphatase 2 regulatory subunit B'delta). Based on this context, is the mutation pathogenic or benign? If pathogenic, what disease does it cause?
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Pathogenic; See cases
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ATTAAGCTAAATTTCTAGTAAAGTCCTAAGACATGGGAATGAATTTCTTTCTTTTACCTTTTTAAATTTGAAAATTTTTATCTTTAGAGACAGTGTTGTTTTGTTGTTCAGGCTGGAGTGCAGTTGGTGTGATCATAGCTCATGGGAGACTTGAACTCCTGGGCGCAAGGGATCCTCCAACCTTGAGTAGCTGGAACTCCAGTAAGCTTCCTGAGTAGCTGGAACTGCAGGCATGTGCCACCACACCTGGCTAATTAAAAAAAATTTTTTGTAGAGATGGGGTCTTGCTACGTTGTTCAGGCTGGTTTCAAACTTCTGGCTTCAAGTAATCCTCCTGCTTTGGCTTCCCAAAGTGTTGGGATTACAGGCTTTGGCCACTGTGCCTGGCCTTTCTTTTACCTTTTGTTTTGTTTTTTTTTTTTGAGACAAAGTCTCGCTCTTGTCCCCCAGGCTGGAGTGCAATGGCATGATCTCGGCTCACTGCAACCTCCGCCTCCTGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGATTACAGGCGCCTGCCACCACGCCTGGCTAATGTTTGTATTTTTAGTAGAGATGGGGTTTCACCATGTTGGCCTGGCTGGTCTTGAACTCTTGACCTCAGGTGATCTGCCCTCCTCGGCCTCCCAAAGTGCTGGGATTACAAGTGTGAGCCACTGCGCCCGGCCTCTTCTACCTTTTGATTGGAGACTGTCATACATTCAGTAAAGGATCTTAAGTGTACTGCTCAATAAATTTTAGGTATGTATCTGCCATGCACCACCTTGCAGGTCCAGTCAAGATACAGGATGTTTACATTACTCAGAAGGCTCCTCATGTCTCTTCTTATTCCTCATGTGTCTTCTTATTCATCATGTGTCTTCTTAGCAATACCCACCCCATTTCCCCTGGCAACGTAATCACTTTTTTGACTTCTGTCACCATCAATCTATCAATTAGCTTTACCTGTTCATGAACTGGAATGAACGTTTTAAAGGCTCTTGATGCACAAGCAGTGGGCATCTCTTTGGGTGATGTGACTTCTTGACTGCTCCCTGCCAGGGCTACAGCACAGTTATCTCTGTAACCCTGGCCTTAGCTCCTTCGGGGCAGGAGACAGCTGCTCACTGCCCAGGCCTGTGCAGGCATAAACAGACTTGGGGATGGCCAGGCCCAGGGTGGGAGGCATATCTTGGGAAGTGGATTTCAACAGGTGACTTGTTTGACCAGGCCCAGCCGCAGCCCCAGCCCCAGCCCCAGCCCCAAGCCCAGTCTCAGCCACCGTCATCCAACAAGCGTCCCAGCAATAGCACGCCGCCCCCCACGCAGCTCAGCAAAATCAAGTACTCAGGGGGGCCCCAGATTGTCAAGAAGGAGCGACGGCAAAGCTCCTCCCGCTTCAACCTCAGCAAGAATCGGGAGCTGCAGAAGCTTCCTGCCCTGAAAGGTACTTGGCAATTGGTCACAGGGGCTGTTTTACCAGTTCTAGTGGGCATCGGGAGTTGGTGGAATGGAAGTTTTGGGGTATTTTGCGGGGAAGGGAGTTCCAGAGAATGCGGGAAGGGGGTGCCAGGGAGCAGGATGGTGGCAGGGTGGGGTAAGGGAAAGCCCTTGAAGGCAAGCAGGGCATCGCAGTGAAGGACTACAGAGGAGAACCTGACTGCTGGGGCCCCCACAGATTCGCCAACCCAGGAGCGGGAGGAGCTGTTTATCCAGAAGCTACGCCAGTGCTGTGTCCTCTTTGACTTCGTGTCAGACCCACTCAGTGACCTCAAATTCAAGGAGGTGAAGCGGGCAGGACTCAACGAGATGGTGGAGTACATCACCCATAGCCGTGATGTTGTCACTGAGGCCATTTACCCTGAGGCTGTCACCATGGTGGGCACAGGGAAAGGACACAGGGGGGACTGGTGAGGGGCTCTGGAGAAGCCCAGGTGGAGCTCTAACTGGCCCTACCCCTCAGTTTTCAGTGAACCTCTTCCGGACGCTGCCACCTTCATCGAATCCCACAGGGGCTGAGTTTGACCCAGAGGAAGATGAGCCCACCCTGGAAGCTGCTTGGCCACATCTCCAGGTACCAGGGCAAGGGGGCAGATTGGCCGTGGCTGCAGGGAGTGGGGCACTTGGAGGCCTGCAAGTCCTTGGGAACATCCCCTCAGTGGCGTGCCTTTTCCCCTATAGCTCGTGTATGAGTTCTTCTTACGTTTCCTTGAGTCTCCTGATTTCCAGCCAAACATAGCCAAGAAGTACATCGACCAGAAGTTTGTACTTGCTGTGAGTCCCCGAGTTCCTGTCCTTGCCCTCTCTTTCCATTCCATGCCCCCTTCATCTGTGTCCCAGTGGCTCTTTCCCCTTAAGCTGAATATATTGGGTTTCATCCATGTCTGGTACGAGGAGGCTATAAAGGGTAAAAAACAAAACAAAACAAAACCCTACTCTGGCCTTAAGAAACTAACAACATAATGGTAGGAAACAAAAAAGCAACAGAGTACCTCTCTCAGGTCAATAGTGAGGCATCACTTTGGAAGTCTCAGTACAAATACAATAGAATCAGCAATATAATAGAATCACTGCTTTCTAAGACTTGCTGGCCCCCACTCCAGGGGACCTCTGCATTTCCCCTGGCGGGACCTATGTCACCCTGGCCACTGCCTTCCCTGGCTGCTGCCTCACTGGCTGCTTTCCCTCCCTTGTACCCCCAGCTCCTAGACCTATTTGACAGTGAGGATCCTCGAGAGCGGGACTTCCTCAAGACCATTTTGCATCGCATCTATGGCAAGTTTTTGGGGCTCCGGGCTTATATCCGTAGGCAGATCAACCACATCTTCTACAGGTGAGGCCAGGAGCCCAGGCTTAGGAGCAAAACCTTCTGCTACTGAGGTGGGGTGGGAGCAGGGAGGTGGGGGGACTGTACAGAATGCTGGAGGGACATCAGGGGTTGTCAAGAGAGCCATTTTTCTTCCCTCAGGTTCATCTACGAGACGGAGCATCACAACGGGATTGCTGAGCTCCTGGAGATCCTGGGCAGGTGAGAGGCCGGGTGGGGGCACAGATGCCTGAAAAAGGTTGGCAGGATTGGTGTACTGAACTTGGATCTGACCCTCTGGTCCTAACAAATGTCCCTTAATTCCTAGCATCATCAATGGCTTTGCCCTGCCCCTTAAAGAAGAGCACAAGATGTTCCTCATCCGTGTCCTACTTCCCCTTCACAAGGTCAAGTCCCTGAGTGTCTACCACCCTCAGGTGAGCTGCCTTCCTCCTTATAATGTCCAACTCAGGCAGCAGAGAAAAGAGCCGGCAGGAAAGTGTTCCAGCTGGGATAGGGGAAGCATAGGGAGCAGGTGGGATAATTCCTTCCCTCCATCTCCCCTTCCCTTCTGGGATCTTGTTTCTATCACTGACTTCTCTGAGAGCTTCTAGGACCTACACCTCACCTCCCTTCTACCTCACACCTTTGCAGCTGGCATACTGTGTGGTACAATTCCTGGAGAAGGAGAGCAGTCTGACTGAGCCGGTAATTCCCCTTCCGGGCCCCAAGGCCCACCTCTTACTGTCAGCATCACTTGCCAGTCTGTACCTACTGGGGGTGCCATAAGGGGGAACTCAGGAGGGCTGTGACCTGACCGGTAACATGGTTTCCTCTCTGAAGGGGAAGCAAAACCTATATACACCTAGGAAACAGATCCAAGGCAAAGAAACGGGTAGCTGGCTGAGATCACCCAAACTGTGCCCACCAGGGTGGGGGAGAGAGCAGGTAGGAAAACTTCCTGGTGACCTAGGCAGGTGCAAAGAATTTTCATCCCCATGCCCTCCTTGTCTCCCAGGTAATTGTGGGACTTCTCAAGTTTTGGCCCAAGACCCACAGCCCCAAGGAGGTGATGTTCTTGAATGAGCTGGAGGAGATTCTGGACGTCATTGAACCTTCTGAGTTCAGCAAAGTGATGGAACCCCTCTTCCGCCAGCTGGCCAAGTGTGTCTCTAGCCCCCATTTCCAGGTGAGACTCCAACCTAGCATATCCTAGCCCCTGCCAGAAACTGAGGTCTTGAGTGAAATGAGCAGCACCCACCGAGTCTGCCTCT
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ATTAAGCTAAATTTCTAGTAAAGTCCTAAGACATGGGAATGAATTTCTTTCTTTTACCTTTTTAAATTTGAAAATTTTTATCTTTAGAGACAGTGTTGTTTTGTTGTTCAGGCTGGAGTGCAGTTGGTGTGATCATAGCTCATGGGAGACTTGAACTCCTGGGCGCAAGGGATCCTCCAACCTTGAGTAGCTGGAACTCCAGTAAGCTTCCTGAGTAGCTGGAACTGCAGGCATGTGCCACCACACCTGGCTAATTAAAAAAAATTTTTTGTAGAGATGGGGTCTTGCTACGTTGTTCAGGCTGGTTTCAAACTTCTGGCTTCAAGTAATCCTCCTGCTTTGGCTTCCCAAAGTGTTGGGATTACAGGCTTTGGCCACTGTGCCTGGCCTTTCTTTTACCTTTTGTTTTGTTTTTTTTTTTTGAGACAAAGTCTCGCTCTTGTCCCCCAGGCTGGAGTGCAATGGCATGATCTCGGCTCACTGCAACCTCCGCCTCCTGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGATTACAGGCGCCTGCCACCACGCCTGGCTAATGTTTGTATTTTTAGTAGAGATGGGGTTTCACCATGTTGGCCTGGCTGGTCTTGAACTCTTGACCTCAGGTGATCTGCCCTCCTCGGCCTCCCAAAGTGCTGGGATTACAAGTGTGAGCCACTGCGCCCGGCCTCTTCTACCTTTTGATTGGAGACTGTCATACATTCAGTAAAGGATCTTAAGTGTACTGCTCAATAAATTTTAGGTATGTATCTGCCATGCACCACCTTGCAGGTCCAGTCAAGATACAGGATGTTTACATTACTCAGAAGGCTCCTCATGTCTCTTCTTATTCCTCATGTGTCTTCTTATTCATCATGTGTCTTCTTAGCAATACCCACCCCATTTCCCCTGGCAACGTAATCACTTTTTTGACTTCTGTCACCATCAATCTATCAATTAGCTTTACCTGTTCATGAACTGGAATGAACGTTTTAAAGGCTCTTGATGCACAAGCAGTGGGCATCTCTTTGGGTGATGTGACTTCTTGACTGCTCCCTGCCAGGGCTACAGCACAGTTATCTCTGTAACCCTGGCCTTAGCTCCTTCGGGGCAGGAGACAGCTGCTCACTGCCCAGGCCTGTGCAGGCATAAACAGACTTGGGGATGGCCAGGCCCAGGGTGGGAGGCATATCTTGGGAAGTGGATTTCAACAGGTGACTTGTTTGACCAGGCCCAGCCGCAGCCCCAGCCCCAGCCCCAGCCCCAAGCCCAGTCTCAGCCACCGTCATCCAACAAGCGTCCCAGCAATAGCACGCCGCCCCCCACGCAGCTCAGCAAAATCAAGTACTCAGGGGGGCCCCAGATTGTCAAGAAGGAGCGACGGCAAAGCTCCTCCCGCTTCAACCTCAGCAAGAATCGGGAGCTGCAGAAGCTTCCTGCCCTGAAAGGTACTTGGCAATTGGTCACAGGGGCTGTTTTACCAGTTCTAGTGGGCATCGGGAGTTGGTGGAATGGAAGTTTTGGGGTATTTTGCGGGGAAGGGAGTTCCAGAGAATGCGGGAAGGGGGTGCCAGGGAGCAGGATGGTGGCAGGGTGGGGTAAGGGAAAGCCCTTGAAGGCAAGCAGGGCATCGCAGTGAAGGACTACAGAGGAGAACCTGACTGCTGGGGCCCCCACAGATTCGCCAACCCAGGAGCGGGAGGAGCTGTTTATCCAGAAGCTACGCCAGTGCTGTGTCCTCTTTGACTTCGTGTCAGACCCACTCAGTGACCTCAAATTCAAGGAGGTGAAGCGGGCAGGACTCAACGAGATGGTGGAGTACATCACCCATAGCCGTGATGTTGTCACTGAGGCCATTTACCCTGAGGCTGTCACCATGGTGGGCACAGGGAAAGGACACAGGGGGGACTGGTGAGGGGCTCTGGAGAAGCCCAGGTGGAGCTCTAACTGGCCCTACCCCTCAGTTTTCAGTGAACCTCTTCCGGACGCTGCCACCTTCATCGAATCCCACAGGGGCTGAGTTTGACCCAGAGAAAGATGAGCCCACCCTGGAAGCTGCTTGGCCACATCTCCAGGTACCAGGGCAAGGGGGCAGATTGGCCGTGGCTGCAGGGAGTGGGGCACTTGGAGGCCTGCAAGTCCTTGGGAACATCCCCTCAGTGGCGTGCCTTTTCCCCTATAGCTCGTGTATGAGTTCTTCTTACGTTTCCTTGAGTCTCCTGATTTCCAGCCAAACATAGCCAAGAAGTACATCGACCAGAAGTTTGTACTTGCTGTGAGTCCCCGAGTTCCTGTCCTTGCCCTCTCTTTCCATTCCATGCCCCCTTCATCTGTGTCCCAGTGGCTCTTTCCCCTTAAGCTGAATATATTGGGTTTCATCCATGTCTGGTACGAGGAGGCTATAAAGGGTAAAAAACAAAACAAAACAAAACCCTACTCTGGCCTTAAGAAACTAACAACATAATGGTAGGAAACAAAAAAGCAACAGAGTACCTCTCTCAGGTCAATAGTGAGGCATCACTTTGGAAGTCTCAGTACAAATACAATAGAATCAGCAATATAATAGAATCACTGCTTTCTAAGACTTGCTGGCCCCCACTCCAGGGGACCTCTGCATTTCCCCTGGCGGGACCTATGTCACCCTGGCCACTGCCTTCCCTGGCTGCTGCCTCACTGGCTGCTTTCCCTCCCTTGTACCCCCAGCTCCTAGACCTATTTGACAGTGAGGATCCTCGAGAGCGGGACTTCCTCAAGACCATTTTGCATCGCATCTATGGCAAGTTTTTGGGGCTCCGGGCTTATATCCGTAGGCAGATCAACCACATCTTCTACAGGTGAGGCCAGGAGCCCAGGCTTAGGAGCAAAACCTTCTGCTACTGAGGTGGGGTGGGAGCAGGGAGGTGGGGGGACTGTACAGAATGCTGGAGGGACATCAGGGGTTGTCAAGAGAGCCATTTTTCTTCCCTCAGGTTCATCTACGAGACGGAGCATCACAACGGGATTGCTGAGCTCCTGGAGATCCTGGGCAGGTGAGAGGCCGGGTGGGGGCACAGATGCCTGAAAAAGGTTGGCAGGATTGGTGTACTGAACTTGGATCTGACCCTCTGGTCCTAACAAATGTCCCTTAATTCCTAGCATCATCAATGGCTTTGCCCTGCCCCTTAAAGAAGAGCACAAGATGTTCCTCATCCGTGTCCTACTTCCCCTTCACAAGGTCAAGTCCCTGAGTGTCTACCACCCTCAGGTGAGCTGCCTTCCTCCTTATAATGTCCAACTCAGGCAGCAGAGAAAAGAGCCGGCAGGAAAGTGTTCCAGCTGGGATAGGGGAAGCATAGGGAGCAGGTGGGATAATTCCTTCCCTCCATCTCCCCTTCCCTTCTGGGATCTTGTTTCTATCACTGACTTCTCTGAGAGCTTCTAGGACCTACACCTCACCTCCCTTCTACCTCACACCTTTGCAGCTGGCATACTGTGTGGTACAATTCCTGGAGAAGGAGAGCAGTCTGACTGAGCCGGTAATTCCCCTTCCGGGCCCCAAGGCCCACCTCTTACTGTCAGCATCACTTGCCAGTCTGTACCTACTGGGGGTGCCATAAGGGGGAACTCAGGAGGGCTGTGACCTGACCGGTAACATGGTTTCCTCTCTGAAGGGGAAGCAAAACCTATATACACCTAGGAAACAGATCCAAGGCAAAGAAACGGGTAGCTGGCTGAGATCACCCAAACTGTGCCCACCAGGGTGGGGGAGAGAGCAGGTAGGAAAACTTCCTGGTGACCTAGGCAGGTGCAAAGAATTTTCATCCCCATGCCCTCCTTGTCTCCCAGGTAATTGTGGGACTTCTCAAGTTTTGGCCCAAGACCCACAGCCCCAAGGAGGTGATGTTCTTGAATGAGCTGGAGGAGATTCTGGACGTCATTGAACCTTCTGAGTTCAGCAAAGTGATGGAACCCCTCTTCCGCCAGCTGGCCAAGTGTGTCTCTAGCCCCCATTTCCAGGTGAGACTCCAACCTAGCATATCCTAGCCCCTGCCAGAAACTGAGGTCTTGAGTGAAATGAGCAGCACCCACCGAGTCTGCCTCT
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Task1_train_10359
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A variant found in Chromosome 6 affects MEA1, PPP2R5D (male-enhanced antigen 1| protein phosphatase 2 regulatory subunit B'delta). Please analyze its biological impact: is it benign or pathogenic, and what condition might it cause?
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Pathogenic; Inborn genetic diseases
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ATTAAGCTAAATTTCTAGTAAAGTCCTAAGACATGGGAATGAATTTCTTTCTTTTACCTTTTTAAATTTGAAAATTTTTATCTTTAGAGACAGTGTTGTTTTGTTGTTCAGGCTGGAGTGCAGTTGGTGTGATCATAGCTCATGGGAGACTTGAACTCCTGGGCGCAAGGGATCCTCCAACCTTGAGTAGCTGGAACTCCAGTAAGCTTCCTGAGTAGCTGGAACTGCAGGCATGTGCCACCACACCTGGCTAATTAAAAAAAATTTTTTGTAGAGATGGGGTCTTGCTACGTTGTTCAGGCTGGTTTCAAACTTCTGGCTTCAAGTAATCCTCCTGCTTTGGCTTCCCAAAGTGTTGGGATTACAGGCTTTGGCCACTGTGCCTGGCCTTTCTTTTACCTTTTGTTTTGTTTTTTTTTTTTGAGACAAAGTCTCGCTCTTGTCCCCCAGGCTGGAGTGCAATGGCATGATCTCGGCTCACTGCAACCTCCGCCTCCTGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGATTACAGGCGCCTGCCACCACGCCTGGCTAATGTTTGTATTTTTAGTAGAGATGGGGTTTCACCATGTTGGCCTGGCTGGTCTTGAACTCTTGACCTCAGGTGATCTGCCCTCCTCGGCCTCCCAAAGTGCTGGGATTACAAGTGTGAGCCACTGCGCCCGGCCTCTTCTACCTTTTGATTGGAGACTGTCATACATTCAGTAAAGGATCTTAAGTGTACTGCTCAATAAATTTTAGGTATGTATCTGCCATGCACCACCTTGCAGGTCCAGTCAAGATACAGGATGTTTACATTACTCAGAAGGCTCCTCATGTCTCTTCTTATTCCTCATGTGTCTTCTTATTCATCATGTGTCTTCTTAGCAATACCCACCCCATTTCCCCTGGCAACGTAATCACTTTTTTGACTTCTGTCACCATCAATCTATCAATTAGCTTTACCTGTTCATGAACTGGAATGAACGTTTTAAAGGCTCTTGATGCACAAGCAGTGGGCATCTCTTTGGGTGATGTGACTTCTTGACTGCTCCCTGCCAGGGCTACAGCACAGTTATCTCTGTAACCCTGGCCTTAGCTCCTTCGGGGCAGGAGACAGCTGCTCACTGCCCAGGCCTGTGCAGGCATAAACAGACTTGGGGATGGCCAGGCCCAGGGTGGGAGGCATATCTTGGGAAGTGGATTTCAACAGGTGACTTGTTTGACCAGGCCCAGCCGCAGCCCCAGCCCCAGCCCCAGCCCCAAGCCCAGTCTCAGCCACCGTCATCCAACAAGCGTCCCAGCAATAGCACGCCGCCCCCCACGCAGCTCAGCAAAATCAAGTACTCAGGGGGGCCCCAGATTGTCAAGAAGGAGCGACGGCAAAGCTCCTCCCGCTTCAACCTCAGCAAGAATCGGGAGCTGCAGAAGCTTCCTGCCCTGAAAGGTACTTGGCAATTGGTCACAGGGGCTGTTTTACCAGTTCTAGTGGGCATCGGGAGTTGGTGGAATGGAAGTTTTGGGGTATTTTGCGGGGAAGGGAGTTCCAGAGAATGCGGGAAGGGGGTGCCAGGGAGCAGGATGGTGGCAGGGTGGGGTAAGGGAAAGCCCTTGAAGGCAAGCAGGGCATCGCAGTGAAGGACTACAGAGGAGAACCTGACTGCTGGGGCCCCCACAGATTCGCCAACCCAGGAGCGGGAGGAGCTGTTTATCCAGAAGCTACGCCAGTGCTGTGTCCTCTTTGACTTCGTGTCAGACCCACTCAGTGACCTCAAATTCAAGGAGGTGAAGCGGGCAGGACTCAACGAGATGGTGGAGTACATCACCCATAGCCGTGATGTTGTCACTGAGGCCATTTACCCTGAGGCTGTCACCATGGTGGGCACAGGGAAAGGACACAGGGGGGACTGGTGAGGGGCTCTGGAGAAGCCCAGGTGGAGCTCTAACTGGCCCTACCCCTCAGTTTTCAGTGAACCTCTTCCGGACGCTGCCACCTTCATCGAATCCCACAGGGGCTGAGTTTGACCCAGAGGAAGATGAGCCCACCCTGGAAGCTGCTTGGCCACATCTCCAGGTACCAGGGCAAGGGGGCAGATTGGCCGTGGCTGCAGGGAGTGGGGCACTTGGAGGCCTGCAAGTCCTTGGGAACATCCCCTCAGTGGCGTGCCTTTTCCCCTATAGCTCGTGTATGAGTTCTTCTTACGTTTCCTTGAGTCTCCTGATTTCCAGCCAAACATAGCCAAGAAGTACATCGACCAGAAGTTTGTACTTGCTGTGAGTCCCCGAGTTCCTGTCCTTGCCCTCTCTTTCCATTCCATGCCCCCTTCATCTGTGTCCCAGTGGCTCTTTCCCCTTAAGCTGAATATATTGGGTTTCATCCATGTCTGGTACGAGGAGGCTATAAAGGGTAAAAAACAAAACAAAACAAAACCCTACTCTGGCCTTAAGAAACTAACAACATAATGGTAGGAAACAAAAAAGCAACAGAGTACCTCTCTCAGGTCAATAGTGAGGCATCACTTTGGAAGTCTCAGTACAAATACAATAGAATCAGCAATATAATAGAATCACTGCTTTCTAAGACTTGCTGGCCCCCACTCCAGGGGACCTCTGCATTTCCCCTGGCGGGACCTATGTCACCCTGGCCACTGCCTTCCCTGGCTGCTGCCTCACTGGCTGCTTTCCCTCCCTTGTACCCCCAGCTCCTAGACCTATTTGACAGTGAGGATCCTCGAGAGCGGGACTTCCTCAAGACCATTTTGCATCGCATCTATGGCAAGTTTTTGGGGCTCCGGGCTTATATCCGTAGGCAGATCAACCACATCTTCTACAGGTGAGGCCAGGAGCCCAGGCTTAGGAGCAAAACCTTCTGCTACTGAGGTGGGGTGGGAGCAGGGAGGTGGGGGGACTGTACAGAATGCTGGAGGGACATCAGGGGTTGTCAAGAGAGCCATTTTTCTTCCCTCAGGTTCATCTACGAGACGGAGCATCACAACGGGATTGCTGAGCTCCTGGAGATCCTGGGCAGGTGAGAGGCCGGGTGGGGGCACAGATGCCTGAAAAAGGTTGGCAGGATTGGTGTACTGAACTTGGATCTGACCCTCTGGTCCTAACAAATGTCCCTTAATTCCTAGCATCATCAATGGCTTTGCCCTGCCCCTTAAAGAAGAGCACAAGATGTTCCTCATCCGTGTCCTACTTCCCCTTCACAAGGTCAAGTCCCTGAGTGTCTACCACCCTCAGGTGAGCTGCCTTCCTCCTTATAATGTCCAACTCAGGCAGCAGAGAAAAGAGCCGGCAGGAAAGTGTTCCAGCTGGGATAGGGGAAGCATAGGGAGCAGGTGGGATAATTCCTTCCCTCCATCTCCCCTTCCCTTCTGGGATCTTGTTTCTATCACTGACTTCTCTGAGAGCTTCTAGGACCTACACCTCACCTCCCTTCTACCTCACACCTTTGCAGCTGGCATACTGTGTGGTACAATTCCTGGAGAAGGAGAGCAGTCTGACTGAGCCGGTAATTCCCCTTCCGGGCCCCAAGGCCCACCTCTTACTGTCAGCATCACTTGCCAGTCTGTACCTACTGGGGGTGCCATAAGGGGGAACTCAGGAGGGCTGTGACCTGACCGGTAACATGGTTTCCTCTCTGAAGGGGAAGCAAAACCTATATACACCTAGGAAACAGATCCAAGGCAAAGAAACGGGTAGCTGGCTGAGATCACCCAAACTGTGCCCACCAGGGTGGGGGAGAGAGCAGGTAGGAAAACTTCCTGGTGACCTAGGCAGGTGCAAAGAATTTTCATCCCCATGCCCTCCTTGTCTCCCAGGTAATTGTGGGACTTCTCAAGTTTTGGCCCAAGACCCACAGCCCCAAGGAGGTGATGTTCTTGAATGAGCTGGAGGAGATTCTGGACGTCATTGAACCTTCTGAGTTCAGCAAAGTGATGGAACCCCTCTTCCGCCAGCTGGCCAAGTGTGTCTCTAGCCCCCATTTCCAGGTGAGACTCCAACCTAGCATATCCTAGCCCCTGCCAGAAACTGAGGTCTTGAGTGAAATGAGCAGCACCCACCGAGTCTGCCTCT
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ATTAAGCTAAATTTCTAGTAAAGTCCTAAGACATGGGAATGAATTTCTTTCTTTTACCTTTTTAAATTTGAAAATTTTTATCTTTAGAGACAGTGTTGTTTTGTTGTTCAGGCTGGAGTGCAGTTGGTGTGATCATAGCTCATGGGAGACTTGAACTCCTGGGCGCAAGGGATCCTCCAACCTTGAGTAGCTGGAACTCCAGTAAGCTTCCTGAGTAGCTGGAACTGCAGGCATGTGCCACCACACCTGGCTAATTAAAAAAAATTTTTTGTAGAGATGGGGTCTTGCTACGTTGTTCAGGCTGGTTTCAAACTTCTGGCTTCAAGTAATCCTCCTGCTTTGGCTTCCCAAAGTGTTGGGATTACAGGCTTTGGCCACTGTGCCTGGCCTTTCTTTTACCTTTTGTTTTGTTTTTTTTTTTTGAGACAAAGTCTCGCTCTTGTCCCCCAGGCTGGAGTGCAATGGCATGATCTCGGCTCACTGCAACCTCCGCCTCCTGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGATTACAGGCGCCTGCCACCACGCCTGGCTAATGTTTGTATTTTTAGTAGAGATGGGGTTTCACCATGTTGGCCTGGCTGGTCTTGAACTCTTGACCTCAGGTGATCTGCCCTCCTCGGCCTCCCAAAGTGCTGGGATTACAAGTGTGAGCCACTGCGCCCGGCCTCTTCTACCTTTTGATTGGAGACTGTCATACATTCAGTAAAGGATCTTAAGTGTACTGCTCAATAAATTTTAGGTATGTATCTGCCATGCACCACCTTGCAGGTCCAGTCAAGATACAGGATGTTTACATTACTCAGAAGGCTCCTCATGTCTCTTCTTATTCCTCATGTGTCTTCTTATTCATCATGTGTCTTCTTAGCAATACCCACCCCATTTCCCCTGGCAACGTAATCACTTTTTTGACTTCTGTCACCATCAATCTATCAATTAGCTTTACCTGTTCATGAACTGGAATGAACGTTTTAAAGGCTCTTGATGCACAAGCAGTGGGCATCTCTTTGGGTGATGTGACTTCTTGACTGCTCCCTGCCAGGGCTACAGCACAGTTATCTCTGTAACCCTGGCCTTAGCTCCTTCGGGGCAGGAGACAGCTGCTCACTGCCCAGGCCTGTGCAGGCATAAACAGACTTGGGGATGGCCAGGCCCAGGGTGGGAGGCATATCTTGGGAAGTGGATTTCAACAGGTGACTTGTTTGACCAGGCCCAGCCGCAGCCCCAGCCCCAGCCCCAGCCCCAAGCCCAGTCTCAGCCACCGTCATCCAACAAGCGTCCCAGCAATAGCACGCCGCCCCCCACGCAGCTCAGCAAAATCAAGTACTCAGGGGGGCCCCAGATTGTCAAGAAGGAGCGACGGCAAAGCTCCTCCCGCTTCAACCTCAGCAAGAATCGGGAGCTGCAGAAGCTTCCTGCCCTGAAAGGTACTTGGCAATTGGTCACAGGGGCTGTTTTACCAGTTCTAGTGGGCATCGGGAGTTGGTGGAATGGAAGTTTTGGGGTATTTTGCGGGGAAGGGAGTTCCAGAGAATGCGGGAAGGGGGTGCCAGGGAGCAGGATGGTGGCAGGGTGGGGTAAGGGAAAGCCCTTGAAGGCAAGCAGGGCATCGCAGTGAAGGACTACAGAGGAGAACCTGACTGCTGGGGCCCCCACAGATTCGCCAACCCAGGAGCGGGAGGAGCTGTTTATCCAGAAGCTACGCCAGTGCTGTGTCCTCTTTGACTTCGTGTCAGACCCACTCAGTGACCTCAAATTCAAGGAGGTGAAGCGGGCAGGACTCAACGAGATGGTGGAGTACATCACCCATAGCCGTGATGTTGTCACTGAGGCCATTTACCCTGAGGCTGTCACCATGGTGGGCACAGGGAAAGGACACAGGGGGGACTGGTGAGGGGCTCTGGAGAAGCCCAGGTGGAGCTCTAACTGGCCCTACCCCTCAGTTTTCAGTGAACCTCTTCCGGACGCTGCCACCTTCATCGAATCCCACAGGGGCTGAGTTTGACCCAGAGAAAGATGAGCCCACCCTGGAAGCTGCTTGGCCACATCTCCAGGTACCAGGGCAAGGGGGCAGATTGGCCGTGGCTGCAGGGAGTGGGGCACTTGGAGGCCTGCAAGTCCTTGGGAACATCCCCTCAGTGGCGTGCCTTTTCCCCTATAGCTCGTGTATGAGTTCTTCTTACGTTTCCTTGAGTCTCCTGATTTCCAGCCAAACATAGCCAAGAAGTACATCGACCAGAAGTTTGTACTTGCTGTGAGTCCCCGAGTTCCTGTCCTTGCCCTCTCTTTCCATTCCATGCCCCCTTCATCTGTGTCCCAGTGGCTCTTTCCCCTTAAGCTGAATATATTGGGTTTCATCCATGTCTGGTACGAGGAGGCTATAAAGGGTAAAAAACAAAACAAAACAAAACCCTACTCTGGCCTTAAGAAACTAACAACATAATGGTAGGAAACAAAAAAGCAACAGAGTACCTCTCTCAGGTCAATAGTGAGGCATCACTTTGGAAGTCTCAGTACAAATACAATAGAATCAGCAATATAATAGAATCACTGCTTTCTAAGACTTGCTGGCCCCCACTCCAGGGGACCTCTGCATTTCCCCTGGCGGGACCTATGTCACCCTGGCCACTGCCTTCCCTGGCTGCTGCCTCACTGGCTGCTTTCCCTCCCTTGTACCCCCAGCTCCTAGACCTATTTGACAGTGAGGATCCTCGAGAGCGGGACTTCCTCAAGACCATTTTGCATCGCATCTATGGCAAGTTTTTGGGGCTCCGGGCTTATATCCGTAGGCAGATCAACCACATCTTCTACAGGTGAGGCCAGGAGCCCAGGCTTAGGAGCAAAACCTTCTGCTACTGAGGTGGGGTGGGAGCAGGGAGGTGGGGGGACTGTACAGAATGCTGGAGGGACATCAGGGGTTGTCAAGAGAGCCATTTTTCTTCCCTCAGGTTCATCTACGAGACGGAGCATCACAACGGGATTGCTGAGCTCCTGGAGATCCTGGGCAGGTGAGAGGCCGGGTGGGGGCACAGATGCCTGAAAAAGGTTGGCAGGATTGGTGTACTGAACTTGGATCTGACCCTCTGGTCCTAACAAATGTCCCTTAATTCCTAGCATCATCAATGGCTTTGCCCTGCCCCTTAAAGAAGAGCACAAGATGTTCCTCATCCGTGTCCTACTTCCCCTTCACAAGGTCAAGTCCCTGAGTGTCTACCACCCTCAGGTGAGCTGCCTTCCTCCTTATAATGTCCAACTCAGGCAGCAGAGAAAAGAGCCGGCAGGAAAGTGTTCCAGCTGGGATAGGGGAAGCATAGGGAGCAGGTGGGATAATTCCTTCCCTCCATCTCCCCTTCCCTTCTGGGATCTTGTTTCTATCACTGACTTCTCTGAGAGCTTCTAGGACCTACACCTCACCTCCCTTCTACCTCACACCTTTGCAGCTGGCATACTGTGTGGTACAATTCCTGGAGAAGGAGAGCAGTCTGACTGAGCCGGTAATTCCCCTTCCGGGCCCCAAGGCCCACCTCTTACTGTCAGCATCACTTGCCAGTCTGTACCTACTGGGGGTGCCATAAGGGGGAACTCAGGAGGGCTGTGACCTGACCGGTAACATGGTTTCCTCTCTGAAGGGGAAGCAAAACCTATATACACCTAGGAAACAGATCCAAGGCAAAGAAACGGGTAGCTGGCTGAGATCACCCAAACTGTGCCCACCAGGGTGGGGGAGAGAGCAGGTAGGAAAACTTCCTGGTGACCTAGGCAGGTGCAAAGAATTTTCATCCCCATGCCCTCCTTGTCTCCCAGGTAATTGTGGGACTTCTCAAGTTTTGGCCCAAGACCCACAGCCCCAAGGAGGTGATGTTCTTGAATGAGCTGGAGGAGATTCTGGACGTCATTGAACCTTCTGAGTTCAGCAAAGTGATGGAACCCCTCTTCCGCCAGCTGGCCAAGTGTGTCTCTAGCCCCCATTTCCAGGTGAGACTCCAACCTAGCATATCCTAGCCCCTGCCAGAAACTGAGGTCTTGAGTGAAATGAGCAGCACCCACCGAGTCTGCCTCT
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Task1_train_10360
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A variant affecting Chromosome 6, within the gene MEA1, PPP2R5D (male-enhanced antigen 1| protein phosphatase 2 regulatory subunit B'delta), has been observed. Determine if it's benign or associated with disease.
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Pathogenic; Hogue-Janssens syndrome 1
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ATTAAGCTAAATTTCTAGTAAAGTCCTAAGACATGGGAATGAATTTCTTTCTTTTACCTTTTTAAATTTGAAAATTTTTATCTTTAGAGACAGTGTTGTTTTGTTGTTCAGGCTGGAGTGCAGTTGGTGTGATCATAGCTCATGGGAGACTTGAACTCCTGGGCGCAAGGGATCCTCCAACCTTGAGTAGCTGGAACTCCAGTAAGCTTCCTGAGTAGCTGGAACTGCAGGCATGTGCCACCACACCTGGCTAATTAAAAAAAATTTTTTGTAGAGATGGGGTCTTGCTACGTTGTTCAGGCTGGTTTCAAACTTCTGGCTTCAAGTAATCCTCCTGCTTTGGCTTCCCAAAGTGTTGGGATTACAGGCTTTGGCCACTGTGCCTGGCCTTTCTTTTACCTTTTGTTTTGTTTTTTTTTTTTGAGACAAAGTCTCGCTCTTGTCCCCCAGGCTGGAGTGCAATGGCATGATCTCGGCTCACTGCAACCTCCGCCTCCTGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGATTACAGGCGCCTGCCACCACGCCTGGCTAATGTTTGTATTTTTAGTAGAGATGGGGTTTCACCATGTTGGCCTGGCTGGTCTTGAACTCTTGACCTCAGGTGATCTGCCCTCCTCGGCCTCCCAAAGTGCTGGGATTACAAGTGTGAGCCACTGCGCCCGGCCTCTTCTACCTTTTGATTGGAGACTGTCATACATTCAGTAAAGGATCTTAAGTGTACTGCTCAATAAATTTTAGGTATGTATCTGCCATGCACCACCTTGCAGGTCCAGTCAAGATACAGGATGTTTACATTACTCAGAAGGCTCCTCATGTCTCTTCTTATTCCTCATGTGTCTTCTTATTCATCATGTGTCTTCTTAGCAATACCCACCCCATTTCCCCTGGCAACGTAATCACTTTTTTGACTTCTGTCACCATCAATCTATCAATTAGCTTTACCTGTTCATGAACTGGAATGAACGTTTTAAAGGCTCTTGATGCACAAGCAGTGGGCATCTCTTTGGGTGATGTGACTTCTTGACTGCTCCCTGCCAGGGCTACAGCACAGTTATCTCTGTAACCCTGGCCTTAGCTCCTTCGGGGCAGGAGACAGCTGCTCACTGCCCAGGCCTGTGCAGGCATAAACAGACTTGGGGATGGCCAGGCCCAGGGTGGGAGGCATATCTTGGGAAGTGGATTTCAACAGGTGACTTGTTTGACCAGGCCCAGCCGCAGCCCCAGCCCCAGCCCCAGCCCCAAGCCCAGTCTCAGCCACCGTCATCCAACAAGCGTCCCAGCAATAGCACGCCGCCCCCCACGCAGCTCAGCAAAATCAAGTACTCAGGGGGGCCCCAGATTGTCAAGAAGGAGCGACGGCAAAGCTCCTCCCGCTTCAACCTCAGCAAGAATCGGGAGCTGCAGAAGCTTCCTGCCCTGAAAGGTACTTGGCAATTGGTCACAGGGGCTGTTTTACCAGTTCTAGTGGGCATCGGGAGTTGGTGGAATGGAAGTTTTGGGGTATTTTGCGGGGAAGGGAGTTCCAGAGAATGCGGGAAGGGGGTGCCAGGGAGCAGGATGGTGGCAGGGTGGGGTAAGGGAAAGCCCTTGAAGGCAAGCAGGGCATCGCAGTGAAGGACTACAGAGGAGAACCTGACTGCTGGGGCCCCCACAGATTCGCCAACCCAGGAGCGGGAGGAGCTGTTTATCCAGAAGCTACGCCAGTGCTGTGTCCTCTTTGACTTCGTGTCAGACCCACTCAGTGACCTCAAATTCAAGGAGGTGAAGCGGGCAGGACTCAACGAGATGGTGGAGTACATCACCCATAGCCGTGATGTTGTCACTGAGGCCATTTACCCTGAGGCTGTCACCATGGTGGGCACAGGGAAAGGACACAGGGGGGACTGGTGAGGGGCTCTGGAGAAGCCCAGGTGGAGCTCTAACTGGCCCTACCCCTCAGTTTTCAGTGAACCTCTTCCGGACGCTGCCACCTTCATCGAATCCCACAGGGGCTGAGTTTGACCCAGAGGAAGATGAGCCCACCCTGGAAGCTGCTTGGCCACATCTCCAGGTACCAGGGCAAGGGGGCAGATTGGCCGTGGCTGCAGGGAGTGGGGCACTTGGAGGCCTGCAAGTCCTTGGGAACATCCCCTCAGTGGCGTGCCTTTTCCCCTATAGCTCGTGTATGAGTTCTTCTTACGTTTCCTTGAGTCTCCTGATTTCCAGCCAAACATAGCCAAGAAGTACATCGACCAGAAGTTTGTACTTGCTGTGAGTCCCCGAGTTCCTGTCCTTGCCCTCTCTTTCCATTCCATGCCCCCTTCATCTGTGTCCCAGTGGCTCTTTCCCCTTAAGCTGAATATATTGGGTTTCATCCATGTCTGGTACGAGGAGGCTATAAAGGGTAAAAAACAAAACAAAACAAAACCCTACTCTGGCCTTAAGAAACTAACAACATAATGGTAGGAAACAAAAAAGCAACAGAGTACCTCTCTCAGGTCAATAGTGAGGCATCACTTTGGAAGTCTCAGTACAAATACAATAGAATCAGCAATATAATAGAATCACTGCTTTCTAAGACTTGCTGGCCCCCACTCCAGGGGACCTCTGCATTTCCCCTGGCGGGACCTATGTCACCCTGGCCACTGCCTTCCCTGGCTGCTGCCTCACTGGCTGCTTTCCCTCCCTTGTACCCCCAGCTCCTAGACCTATTTGACAGTGAGGATCCTCGAGAGCGGGACTTCCTCAAGACCATTTTGCATCGCATCTATGGCAAGTTTTTGGGGCTCCGGGCTTATATCCGTAGGCAGATCAACCACATCTTCTACAGGTGAGGCCAGGAGCCCAGGCTTAGGAGCAAAACCTTCTGCTACTGAGGTGGGGTGGGAGCAGGGAGGTGGGGGGACTGTACAGAATGCTGGAGGGACATCAGGGGTTGTCAAGAGAGCCATTTTTCTTCCCTCAGGTTCATCTACGAGACGGAGCATCACAACGGGATTGCTGAGCTCCTGGAGATCCTGGGCAGGTGAGAGGCCGGGTGGGGGCACAGATGCCTGAAAAAGGTTGGCAGGATTGGTGTACTGAACTTGGATCTGACCCTCTGGTCCTAACAAATGTCCCTTAATTCCTAGCATCATCAATGGCTTTGCCCTGCCCCTTAAAGAAGAGCACAAGATGTTCCTCATCCGTGTCCTACTTCCCCTTCACAAGGTCAAGTCCCTGAGTGTCTACCACCCTCAGGTGAGCTGCCTTCCTCCTTATAATGTCCAACTCAGGCAGCAGAGAAAAGAGCCGGCAGGAAAGTGTTCCAGCTGGGATAGGGGAAGCATAGGGAGCAGGTGGGATAATTCCTTCCCTCCATCTCCCCTTCCCTTCTGGGATCTTGTTTCTATCACTGACTTCTCTGAGAGCTTCTAGGACCTACACCTCACCTCCCTTCTACCTCACACCTTTGCAGCTGGCATACTGTGTGGTACAATTCCTGGAGAAGGAGAGCAGTCTGACTGAGCCGGTAATTCCCCTTCCGGGCCCCAAGGCCCACCTCTTACTGTCAGCATCACTTGCCAGTCTGTACCTACTGGGGGTGCCATAAGGGGGAACTCAGGAGGGCTGTGACCTGACCGGTAACATGGTTTCCTCTCTGAAGGGGAAGCAAAACCTATATACACCTAGGAAACAGATCCAAGGCAAAGAAACGGGTAGCTGGCTGAGATCACCCAAACTGTGCCCACCAGGGTGGGGGAGAGAGCAGGTAGGAAAACTTCCTGGTGACCTAGGCAGGTGCAAAGAATTTTCATCCCCATGCCCTCCTTGTCTCCCAGGTAATTGTGGGACTTCTCAAGTTTTGGCCCAAGACCCACAGCCCCAAGGAGGTGATGTTCTTGAATGAGCTGGAGGAGATTCTGGACGTCATTGAACCTTCTGAGTTCAGCAAAGTGATGGAACCCCTCTTCCGCCAGCTGGCCAAGTGTGTCTCTAGCCCCCATTTCCAGGTGAGACTCCAACCTAGCATATCCTAGCCCCTGCCAGAAACTGAGGTCTTGAGTGAAATGAGCAGCACCCACCGAGTCTGCCTCT
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ATTAAGCTAAATTTCTAGTAAAGTCCTAAGACATGGGAATGAATTTCTTTCTTTTACCTTTTTAAATTTGAAAATTTTTATCTTTAGAGACAGTGTTGTTTTGTTGTTCAGGCTGGAGTGCAGTTGGTGTGATCATAGCTCATGGGAGACTTGAACTCCTGGGCGCAAGGGATCCTCCAACCTTGAGTAGCTGGAACTCCAGTAAGCTTCCTGAGTAGCTGGAACTGCAGGCATGTGCCACCACACCTGGCTAATTAAAAAAAATTTTTTGTAGAGATGGGGTCTTGCTACGTTGTTCAGGCTGGTTTCAAACTTCTGGCTTCAAGTAATCCTCCTGCTTTGGCTTCCCAAAGTGTTGGGATTACAGGCTTTGGCCACTGTGCCTGGCCTTTCTTTTACCTTTTGTTTTGTTTTTTTTTTTTGAGACAAAGTCTCGCTCTTGTCCCCCAGGCTGGAGTGCAATGGCATGATCTCGGCTCACTGCAACCTCCGCCTCCTGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGATTACAGGCGCCTGCCACCACGCCTGGCTAATGTTTGTATTTTTAGTAGAGATGGGGTTTCACCATGTTGGCCTGGCTGGTCTTGAACTCTTGACCTCAGGTGATCTGCCCTCCTCGGCCTCCCAAAGTGCTGGGATTACAAGTGTGAGCCACTGCGCCCGGCCTCTTCTACCTTTTGATTGGAGACTGTCATACATTCAGTAAAGGATCTTAAGTGTACTGCTCAATAAATTTTAGGTATGTATCTGCCATGCACCACCTTGCAGGTCCAGTCAAGATACAGGATGTTTACATTACTCAGAAGGCTCCTCATGTCTCTTCTTATTCCTCATGTGTCTTCTTATTCATCATGTGTCTTCTTAGCAATACCCACCCCATTTCCCCTGGCAACGTAATCACTTTTTTGACTTCTGTCACCATCAATCTATCAATTAGCTTTACCTGTTCATGAACTGGAATGAACGTTTTAAAGGCTCTTGATGCACAAGCAGTGGGCATCTCTTTGGGTGATGTGACTTCTTGACTGCTCCCTGCCAGGGCTACAGCACAGTTATCTCTGTAACCCTGGCCTTAGCTCCTTCGGGGCAGGAGACAGCTGCTCACTGCCCAGGCCTGTGCAGGCATAAACAGACTTGGGGATGGCCAGGCCCAGGGTGGGAGGCATATCTTGGGAAGTGGATTTCAACAGGTGACTTGTTTGACCAGGCCCAGCCGCAGCCCCAGCCCCAGCCCCAGCCCCAAGCCCAGTCTCAGCCACCGTCATCCAACAAGCGTCCCAGCAATAGCACGCCGCCCCCCACGCAGCTCAGCAAAATCAAGTACTCAGGGGGGCCCCAGATTGTCAAGAAGGAGCGACGGCAAAGCTCCTCCCGCTTCAACCTCAGCAAGAATCGGGAGCTGCAGAAGCTTCCTGCCCTGAAAGGTACTTGGCAATTGGTCACAGGGGCTGTTTTACCAGTTCTAGTGGGCATCGGGAGTTGGTGGAATGGAAGTTTTGGGGTATTTTGCGGGGAAGGGAGTTCCAGAGAATGCGGGAAGGGGGTGCCAGGGAGCAGGATGGTGGCAGGGTGGGGTAAGGGAAAGCCCTTGAAGGCAAGCAGGGCATCGCAGTGAAGGACTACAGAGGAGAACCTGACTGCTGGGGCCCCCACAGATTCGCCAACCCAGGAGCGGGAGGAGCTGTTTATCCAGAAGCTACGCCAGTGCTGTGTCCTCTTTGACTTCGTGTCAGACCCACTCAGTGACCTCAAATTCAAGGAGGTGAAGCGGGCAGGACTCAACGAGATGGTGGAGTACATCACCCATAGCCGTGATGTTGTCACTGAGGCCATTTACCCTGAGGCTGTCACCATGGTGGGCACAGGGAAAGGACACAGGGGGGACTGGTGAGGGGCTCTGGAGAAGCCCAGGTGGAGCTCTAACTGGCCCTACCCCTCAGTTTTCAGTGAACCTCTTCCGGACGCTGCCACCTTCATCGAATCCCACAGGGGCTGAGTTTGACCCAGAGAAAGATGAGCCCACCCTGGAAGCTGCTTGGCCACATCTCCAGGTACCAGGGCAAGGGGGCAGATTGGCCGTGGCTGCAGGGAGTGGGGCACTTGGAGGCCTGCAAGTCCTTGGGAACATCCCCTCAGTGGCGTGCCTTTTCCCCTATAGCTCGTGTATGAGTTCTTCTTACGTTTCCTTGAGTCTCCTGATTTCCAGCCAAACATAGCCAAGAAGTACATCGACCAGAAGTTTGTACTTGCTGTGAGTCCCCGAGTTCCTGTCCTTGCCCTCTCTTTCCATTCCATGCCCCCTTCATCTGTGTCCCAGTGGCTCTTTCCCCTTAAGCTGAATATATTGGGTTTCATCCATGTCTGGTACGAGGAGGCTATAAAGGGTAAAAAACAAAACAAAACAAAACCCTACTCTGGCCTTAAGAAACTAACAACATAATGGTAGGAAACAAAAAAGCAACAGAGTACCTCTCTCAGGTCAATAGTGAGGCATCACTTTGGAAGTCTCAGTACAAATACAATAGAATCAGCAATATAATAGAATCACTGCTTTCTAAGACTTGCTGGCCCCCACTCCAGGGGACCTCTGCATTTCCCCTGGCGGGACCTATGTCACCCTGGCCACTGCCTTCCCTGGCTGCTGCCTCACTGGCTGCTTTCCCTCCCTTGTACCCCCAGCTCCTAGACCTATTTGACAGTGAGGATCCTCGAGAGCGGGACTTCCTCAAGACCATTTTGCATCGCATCTATGGCAAGTTTTTGGGGCTCCGGGCTTATATCCGTAGGCAGATCAACCACATCTTCTACAGGTGAGGCCAGGAGCCCAGGCTTAGGAGCAAAACCTTCTGCTACTGAGGTGGGGTGGGAGCAGGGAGGTGGGGGGACTGTACAGAATGCTGGAGGGACATCAGGGGTTGTCAAGAGAGCCATTTTTCTTCCCTCAGGTTCATCTACGAGACGGAGCATCACAACGGGATTGCTGAGCTCCTGGAGATCCTGGGCAGGTGAGAGGCCGGGTGGGGGCACAGATGCCTGAAAAAGGTTGGCAGGATTGGTGTACTGAACTTGGATCTGACCCTCTGGTCCTAACAAATGTCCCTTAATTCCTAGCATCATCAATGGCTTTGCCCTGCCCCTTAAAGAAGAGCACAAGATGTTCCTCATCCGTGTCCTACTTCCCCTTCACAAGGTCAAGTCCCTGAGTGTCTACCACCCTCAGGTGAGCTGCCTTCCTCCTTATAATGTCCAACTCAGGCAGCAGAGAAAAGAGCCGGCAGGAAAGTGTTCCAGCTGGGATAGGGGAAGCATAGGGAGCAGGTGGGATAATTCCTTCCCTCCATCTCCCCTTCCCTTCTGGGATCTTGTTTCTATCACTGACTTCTCTGAGAGCTTCTAGGACCTACACCTCACCTCCCTTCTACCTCACACCTTTGCAGCTGGCATACTGTGTGGTACAATTCCTGGAGAAGGAGAGCAGTCTGACTGAGCCGGTAATTCCCCTTCCGGGCCCCAAGGCCCACCTCTTACTGTCAGCATCACTTGCCAGTCTGTACCTACTGGGGGTGCCATAAGGGGGAACTCAGGAGGGCTGTGACCTGACCGGTAACATGGTTTCCTCTCTGAAGGGGAAGCAAAACCTATATACACCTAGGAAACAGATCCAAGGCAAAGAAACGGGTAGCTGGCTGAGATCACCCAAACTGTGCCCACCAGGGTGGGGGAGAGAGCAGGTAGGAAAACTTCCTGGTGACCTAGGCAGGTGCAAAGAATTTTCATCCCCATGCCCTCCTTGTCTCCCAGGTAATTGTGGGACTTCTCAAGTTTTGGCCCAAGACCCACAGCCCCAAGGAGGTGATGTTCTTGAATGAGCTGGAGGAGATTCTGGACGTCATTGAACCTTCTGAGTTCAGCAAAGTGATGGAACCCCTCTTCCGCCAGCTGGCCAAGTGTGTCTCTAGCCCCCATTTCCAGGTGAGACTCCAACCTAGCATATCCTAGCCCCTGCCAGAAACTGAGGTCTTGAGTGAAATGAGCAGCACCCACCGAGTCTGCCTCT
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Task1_train_10361
|
A variant affecting Chromosome 6, within the gene MEA1, PPP2R5D (male-enhanced antigen 1| protein phosphatase 2 regulatory subunit B'delta), has been observed. Determine if it's benign or associated with disease.
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Pathogenic; Neurodevelopmental delay
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ATTAAGCTAAATTTCTAGTAAAGTCCTAAGACATGGGAATGAATTTCTTTCTTTTACCTTTTTAAATTTGAAAATTTTTATCTTTAGAGACAGTGTTGTTTTGTTGTTCAGGCTGGAGTGCAGTTGGTGTGATCATAGCTCATGGGAGACTTGAACTCCTGGGCGCAAGGGATCCTCCAACCTTGAGTAGCTGGAACTCCAGTAAGCTTCCTGAGTAGCTGGAACTGCAGGCATGTGCCACCACACCTGGCTAATTAAAAAAAATTTTTTGTAGAGATGGGGTCTTGCTACGTTGTTCAGGCTGGTTTCAAACTTCTGGCTTCAAGTAATCCTCCTGCTTTGGCTTCCCAAAGTGTTGGGATTACAGGCTTTGGCCACTGTGCCTGGCCTTTCTTTTACCTTTTGTTTTGTTTTTTTTTTTTGAGACAAAGTCTCGCTCTTGTCCCCCAGGCTGGAGTGCAATGGCATGATCTCGGCTCACTGCAACCTCCGCCTCCTGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGATTACAGGCGCCTGCCACCACGCCTGGCTAATGTTTGTATTTTTAGTAGAGATGGGGTTTCACCATGTTGGCCTGGCTGGTCTTGAACTCTTGACCTCAGGTGATCTGCCCTCCTCGGCCTCCCAAAGTGCTGGGATTACAAGTGTGAGCCACTGCGCCCGGCCTCTTCTACCTTTTGATTGGAGACTGTCATACATTCAGTAAAGGATCTTAAGTGTACTGCTCAATAAATTTTAGGTATGTATCTGCCATGCACCACCTTGCAGGTCCAGTCAAGATACAGGATGTTTACATTACTCAGAAGGCTCCTCATGTCTCTTCTTATTCCTCATGTGTCTTCTTATTCATCATGTGTCTTCTTAGCAATACCCACCCCATTTCCCCTGGCAACGTAATCACTTTTTTGACTTCTGTCACCATCAATCTATCAATTAGCTTTACCTGTTCATGAACTGGAATGAACGTTTTAAAGGCTCTTGATGCACAAGCAGTGGGCATCTCTTTGGGTGATGTGACTTCTTGACTGCTCCCTGCCAGGGCTACAGCACAGTTATCTCTGTAACCCTGGCCTTAGCTCCTTCGGGGCAGGAGACAGCTGCTCACTGCCCAGGCCTGTGCAGGCATAAACAGACTTGGGGATGGCCAGGCCCAGGGTGGGAGGCATATCTTGGGAAGTGGATTTCAACAGGTGACTTGTTTGACCAGGCCCAGCCGCAGCCCCAGCCCCAGCCCCAGCCCCAAGCCCAGTCTCAGCCACCGTCATCCAACAAGCGTCCCAGCAATAGCACGCCGCCCCCCACGCAGCTCAGCAAAATCAAGTACTCAGGGGGGCCCCAGATTGTCAAGAAGGAGCGACGGCAAAGCTCCTCCCGCTTCAACCTCAGCAAGAATCGGGAGCTGCAGAAGCTTCCTGCCCTGAAAGGTACTTGGCAATTGGTCACAGGGGCTGTTTTACCAGTTCTAGTGGGCATCGGGAGTTGGTGGAATGGAAGTTTTGGGGTATTTTGCGGGGAAGGGAGTTCCAGAGAATGCGGGAAGGGGGTGCCAGGGAGCAGGATGGTGGCAGGGTGGGGTAAGGGAAAGCCCTTGAAGGCAAGCAGGGCATCGCAGTGAAGGACTACAGAGGAGAACCTGACTGCTGGGGCCCCCACAGATTCGCCAACCCAGGAGCGGGAGGAGCTGTTTATCCAGAAGCTACGCCAGTGCTGTGTCCTCTTTGACTTCGTGTCAGACCCACTCAGTGACCTCAAATTCAAGGAGGTGAAGCGGGCAGGACTCAACGAGATGGTGGAGTACATCACCCATAGCCGTGATGTTGTCACTGAGGCCATTTACCCTGAGGCTGTCACCATGGTGGGCACAGGGAAAGGACACAGGGGGGACTGGTGAGGGGCTCTGGAGAAGCCCAGGTGGAGCTCTAACTGGCCCTACCCCTCAGTTTTCAGTGAACCTCTTCCGGACGCTGCCACCTTCATCGAATCCCACAGGGGCTGAGTTTGACCCAGAGGAAGATGAGCCCACCCTGGAAGCTGCTTGGCCACATCTCCAGGTACCAGGGCAAGGGGGCAGATTGGCCGTGGCTGCAGGGAGTGGGGCACTTGGAGGCCTGCAAGTCCTTGGGAACATCCCCTCAGTGGCGTGCCTTTTCCCCTATAGCTCGTGTATGAGTTCTTCTTACGTTTCCTTGAGTCTCCTGATTTCCAGCCAAACATAGCCAAGAAGTACATCGACCAGAAGTTTGTACTTGCTGTGAGTCCCCGAGTTCCTGTCCTTGCCCTCTCTTTCCATTCCATGCCCCCTTCATCTGTGTCCCAGTGGCTCTTTCCCCTTAAGCTGAATATATTGGGTTTCATCCATGTCTGGTACGAGGAGGCTATAAAGGGTAAAAAACAAAACAAAACAAAACCCTACTCTGGCCTTAAGAAACTAACAACATAATGGTAGGAAACAAAAAAGCAACAGAGTACCTCTCTCAGGTCAATAGTGAGGCATCACTTTGGAAGTCTCAGTACAAATACAATAGAATCAGCAATATAATAGAATCACTGCTTTCTAAGACTTGCTGGCCCCCACTCCAGGGGACCTCTGCATTTCCCCTGGCGGGACCTATGTCACCCTGGCCACTGCCTTCCCTGGCTGCTGCCTCACTGGCTGCTTTCCCTCCCTTGTACCCCCAGCTCCTAGACCTATTTGACAGTGAGGATCCTCGAGAGCGGGACTTCCTCAAGACCATTTTGCATCGCATCTATGGCAAGTTTTTGGGGCTCCGGGCTTATATCCGTAGGCAGATCAACCACATCTTCTACAGGTGAGGCCAGGAGCCCAGGCTTAGGAGCAAAACCTTCTGCTACTGAGGTGGGGTGGGAGCAGGGAGGTGGGGGGACTGTACAGAATGCTGGAGGGACATCAGGGGTTGTCAAGAGAGCCATTTTTCTTCCCTCAGGTTCATCTACGAGACGGAGCATCACAACGGGATTGCTGAGCTCCTGGAGATCCTGGGCAGGTGAGAGGCCGGGTGGGGGCACAGATGCCTGAAAAAGGTTGGCAGGATTGGTGTACTGAACTTGGATCTGACCCTCTGGTCCTAACAAATGTCCCTTAATTCCTAGCATCATCAATGGCTTTGCCCTGCCCCTTAAAGAAGAGCACAAGATGTTCCTCATCCGTGTCCTACTTCCCCTTCACAAGGTCAAGTCCCTGAGTGTCTACCACCCTCAGGTGAGCTGCCTTCCTCCTTATAATGTCCAACTCAGGCAGCAGAGAAAAGAGCCGGCAGGAAAGTGTTCCAGCTGGGATAGGGGAAGCATAGGGAGCAGGTGGGATAATTCCTTCCCTCCATCTCCCCTTCCCTTCTGGGATCTTGTTTCTATCACTGACTTCTCTGAGAGCTTCTAGGACCTACACCTCACCTCCCTTCTACCTCACACCTTTGCAGCTGGCATACTGTGTGGTACAATTCCTGGAGAAGGAGAGCAGTCTGACTGAGCCGGTAATTCCCCTTCCGGGCCCCAAGGCCCACCTCTTACTGTCAGCATCACTTGCCAGTCTGTACCTACTGGGGGTGCCATAAGGGGGAACTCAGGAGGGCTGTGACCTGACCGGTAACATGGTTTCCTCTCTGAAGGGGAAGCAAAACCTATATACACCTAGGAAACAGATCCAAGGCAAAGAAACGGGTAGCTGGCTGAGATCACCCAAACTGTGCCCACCAGGGTGGGGGAGAGAGCAGGTAGGAAAACTTCCTGGTGACCTAGGCAGGTGCAAAGAATTTTCATCCCCATGCCCTCCTTGTCTCCCAGGTAATTGTGGGACTTCTCAAGTTTTGGCCCAAGACCCACAGCCCCAAGGAGGTGATGTTCTTGAATGAGCTGGAGGAGATTCTGGACGTCATTGAACCTTCTGAGTTCAGCAAAGTGATGGAACCCCTCTTCCGCCAGCTGGCCAAGTGTGTCTCTAGCCCCCATTTCCAGGTGAGACTCCAACCTAGCATATCCTAGCCCCTGCCAGAAACTGAGGTCTTGAGTGAAATGAGCAGCACCCACCGAGTCTGCCTCT
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ATTAAGCTAAATTTCTAGTAAAGTCCTAAGACATGGGAATGAATTTCTTTCTTTTACCTTTTTAAATTTGAAAATTTTTATCTTTAGAGACAGTGTTGTTTTGTTGTTCAGGCTGGAGTGCAGTTGGTGTGATCATAGCTCATGGGAGACTTGAACTCCTGGGCGCAAGGGATCCTCCAACCTTGAGTAGCTGGAACTCCAGTAAGCTTCCTGAGTAGCTGGAACTGCAGGCATGTGCCACCACACCTGGCTAATTAAAAAAAATTTTTTGTAGAGATGGGGTCTTGCTACGTTGTTCAGGCTGGTTTCAAACTTCTGGCTTCAAGTAATCCTCCTGCTTTGGCTTCCCAAAGTGTTGGGATTACAGGCTTTGGCCACTGTGCCTGGCCTTTCTTTTACCTTTTGTTTTGTTTTTTTTTTTTGAGACAAAGTCTCGCTCTTGTCCCCCAGGCTGGAGTGCAATGGCATGATCTCGGCTCACTGCAACCTCCGCCTCCTGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGATTACAGGCGCCTGCCACCACGCCTGGCTAATGTTTGTATTTTTAGTAGAGATGGGGTTTCACCATGTTGGCCTGGCTGGTCTTGAACTCTTGACCTCAGGTGATCTGCCCTCCTCGGCCTCCCAAAGTGCTGGGATTACAAGTGTGAGCCACTGCGCCCGGCCTCTTCTACCTTTTGATTGGAGACTGTCATACATTCAGTAAAGGATCTTAAGTGTACTGCTCAATAAATTTTAGGTATGTATCTGCCATGCACCACCTTGCAGGTCCAGTCAAGATACAGGATGTTTACATTACTCAGAAGGCTCCTCATGTCTCTTCTTATTCCTCATGTGTCTTCTTATTCATCATGTGTCTTCTTAGCAATACCCACCCCATTTCCCCTGGCAACGTAATCACTTTTTTGACTTCTGTCACCATCAATCTATCAATTAGCTTTACCTGTTCATGAACTGGAATGAACGTTTTAAAGGCTCTTGATGCACAAGCAGTGGGCATCTCTTTGGGTGATGTGACTTCTTGACTGCTCCCTGCCAGGGCTACAGCACAGTTATCTCTGTAACCCTGGCCTTAGCTCCTTCGGGGCAGGAGACAGCTGCTCACTGCCCAGGCCTGTGCAGGCATAAACAGACTTGGGGATGGCCAGGCCCAGGGTGGGAGGCATATCTTGGGAAGTGGATTTCAACAGGTGACTTGTTTGACCAGGCCCAGCCGCAGCCCCAGCCCCAGCCCCAGCCCCAAGCCCAGTCTCAGCCACCGTCATCCAACAAGCGTCCCAGCAATAGCACGCCGCCCCCCACGCAGCTCAGCAAAATCAAGTACTCAGGGGGGCCCCAGATTGTCAAGAAGGAGCGACGGCAAAGCTCCTCCCGCTTCAACCTCAGCAAGAATCGGGAGCTGCAGAAGCTTCCTGCCCTGAAAGGTACTTGGCAATTGGTCACAGGGGCTGTTTTACCAGTTCTAGTGGGCATCGGGAGTTGGTGGAATGGAAGTTTTGGGGTATTTTGCGGGGAAGGGAGTTCCAGAGAATGCGGGAAGGGGGTGCCAGGGAGCAGGATGGTGGCAGGGTGGGGTAAGGGAAAGCCCTTGAAGGCAAGCAGGGCATCGCAGTGAAGGACTACAGAGGAGAACCTGACTGCTGGGGCCCCCACAGATTCGCCAACCCAGGAGCGGGAGGAGCTGTTTATCCAGAAGCTACGCCAGTGCTGTGTCCTCTTTGACTTCGTGTCAGACCCACTCAGTGACCTCAAATTCAAGGAGGTGAAGCGGGCAGGACTCAACGAGATGGTGGAGTACATCACCCATAGCCGTGATGTTGTCACTGAGGCCATTTACCCTGAGGCTGTCACCATGGTGGGCACAGGGAAAGGACACAGGGGGGACTGGTGAGGGGCTCTGGAGAAGCCCAGGTGGAGCTCTAACTGGCCCTACCCCTCAGTTTTCAGTGAACCTCTTCCGGACGCTGCCACCTTCATCGAATCCCACAGGGGCTGAGTTTGACCCAGAGAAAGATGAGCCCACCCTGGAAGCTGCTTGGCCACATCTCCAGGTACCAGGGCAAGGGGGCAGATTGGCCGTGGCTGCAGGGAGTGGGGCACTTGGAGGCCTGCAAGTCCTTGGGAACATCCCCTCAGTGGCGTGCCTTTTCCCCTATAGCTCGTGTATGAGTTCTTCTTACGTTTCCTTGAGTCTCCTGATTTCCAGCCAAACATAGCCAAGAAGTACATCGACCAGAAGTTTGTACTTGCTGTGAGTCCCCGAGTTCCTGTCCTTGCCCTCTCTTTCCATTCCATGCCCCCTTCATCTGTGTCCCAGTGGCTCTTTCCCCTTAAGCTGAATATATTGGGTTTCATCCATGTCTGGTACGAGGAGGCTATAAAGGGTAAAAAACAAAACAAAACAAAACCCTACTCTGGCCTTAAGAAACTAACAACATAATGGTAGGAAACAAAAAAGCAACAGAGTACCTCTCTCAGGTCAATAGTGAGGCATCACTTTGGAAGTCTCAGTACAAATACAATAGAATCAGCAATATAATAGAATCACTGCTTTCTAAGACTTGCTGGCCCCCACTCCAGGGGACCTCTGCATTTCCCCTGGCGGGACCTATGTCACCCTGGCCACTGCCTTCCCTGGCTGCTGCCTCACTGGCTGCTTTCCCTCCCTTGTACCCCCAGCTCCTAGACCTATTTGACAGTGAGGATCCTCGAGAGCGGGACTTCCTCAAGACCATTTTGCATCGCATCTATGGCAAGTTTTTGGGGCTCCGGGCTTATATCCGTAGGCAGATCAACCACATCTTCTACAGGTGAGGCCAGGAGCCCAGGCTTAGGAGCAAAACCTTCTGCTACTGAGGTGGGGTGGGAGCAGGGAGGTGGGGGGACTGTACAGAATGCTGGAGGGACATCAGGGGTTGTCAAGAGAGCCATTTTTCTTCCCTCAGGTTCATCTACGAGACGGAGCATCACAACGGGATTGCTGAGCTCCTGGAGATCCTGGGCAGGTGAGAGGCCGGGTGGGGGCACAGATGCCTGAAAAAGGTTGGCAGGATTGGTGTACTGAACTTGGATCTGACCCTCTGGTCCTAACAAATGTCCCTTAATTCCTAGCATCATCAATGGCTTTGCCCTGCCCCTTAAAGAAGAGCACAAGATGTTCCTCATCCGTGTCCTACTTCCCCTTCACAAGGTCAAGTCCCTGAGTGTCTACCACCCTCAGGTGAGCTGCCTTCCTCCTTATAATGTCCAACTCAGGCAGCAGAGAAAAGAGCCGGCAGGAAAGTGTTCCAGCTGGGATAGGGGAAGCATAGGGAGCAGGTGGGATAATTCCTTCCCTCCATCTCCCCTTCCCTTCTGGGATCTTGTTTCTATCACTGACTTCTCTGAGAGCTTCTAGGACCTACACCTCACCTCCCTTCTACCTCACACCTTTGCAGCTGGCATACTGTGTGGTACAATTCCTGGAGAAGGAGAGCAGTCTGACTGAGCCGGTAATTCCCCTTCCGGGCCCCAAGGCCCACCTCTTACTGTCAGCATCACTTGCCAGTCTGTACCTACTGGGGGTGCCATAAGGGGGAACTCAGGAGGGCTGTGACCTGACCGGTAACATGGTTTCCTCTCTGAAGGGGAAGCAAAACCTATATACACCTAGGAAACAGATCCAAGGCAAAGAAACGGGTAGCTGGCTGAGATCACCCAAACTGTGCCCACCAGGGTGGGGGAGAGAGCAGGTAGGAAAACTTCCTGGTGACCTAGGCAGGTGCAAAGAATTTTCATCCCCATGCCCTCCTTGTCTCCCAGGTAATTGTGGGACTTCTCAAGTTTTGGCCCAAGACCCACAGCCCCAAGGAGGTGATGTTCTTGAATGAGCTGGAGGAGATTCTGGACGTCATTGAACCTTCTGAGTTCAGCAAAGTGATGGAACCCCTCTTCCGCCAGCTGGCCAAGTGTGTCTCTAGCCCCCATTTCCAGGTGAGACTCCAACCTAGCATATCCTAGCCCCTGCCAGAAACTGAGGTCTTGAGTGAAATGAGCAGCACCCACCGAGTCTGCCTCT
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Task1_train_10362
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With a mutation on Chromosome 6 in gene PPP2R5D (protein phosphatase 2 regulatory subunit B'delta), classify this variant as benign or pathogenic. Include the disease if it's pathogenic.
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Pathogenic; not provided
|
ATTTCTAGTAAAGTCCTAAGACATGGGAATGAATTTCTTTCTTTTACCTTTTTAAATTTGAAAATTTTTATCTTTAGAGACAGTGTTGTTTTGTTGTTCAGGCTGGAGTGCAGTTGGTGTGATCATAGCTCATGGGAGACTTGAACTCCTGGGCGCAAGGGATCCTCCAACCTTGAGTAGCTGGAACTCCAGTAAGCTTCCTGAGTAGCTGGAACTGCAGGCATGTGCCACCACACCTGGCTAATTAAAAAAAATTTTTTGTAGAGATGGGGTCTTGCTACGTTGTTCAGGCTGGTTTCAAACTTCTGGCTTCAAGTAATCCTCCTGCTTTGGCTTCCCAAAGTGTTGGGATTACAGGCTTTGGCCACTGTGCCTGGCCTTTCTTTTACCTTTTGTTTTGTTTTTTTTTTTTGAGACAAAGTCTCGCTCTTGTCCCCCAGGCTGGAGTGCAATGGCATGATCTCGGCTCACTGCAACCTCCGCCTCCTGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGATTACAGGCGCCTGCCACCACGCCTGGCTAATGTTTGTATTTTTAGTAGAGATGGGGTTTCACCATGTTGGCCTGGCTGGTCTTGAACTCTTGACCTCAGGTGATCTGCCCTCCTCGGCCTCCCAAAGTGCTGGGATTACAAGTGTGAGCCACTGCGCCCGGCCTCTTCTACCTTTTGATTGGAGACTGTCATACATTCAGTAAAGGATCTTAAGTGTACTGCTCAATAAATTTTAGGTATGTATCTGCCATGCACCACCTTGCAGGTCCAGTCAAGATACAGGATGTTTACATTACTCAGAAGGCTCCTCATGTCTCTTCTTATTCCTCATGTGTCTTCTTATTCATCATGTGTCTTCTTAGCAATACCCACCCCATTTCCCCTGGCAACGTAATCACTTTTTTGACTTCTGTCACCATCAATCTATCAATTAGCTTTACCTGTTCATGAACTGGAATGAACGTTTTAAAGGCTCTTGATGCACAAGCAGTGGGCATCTCTTTGGGTGATGTGACTTCTTGACTGCTCCCTGCCAGGGCTACAGCACAGTTATCTCTGTAACCCTGGCCTTAGCTCCTTCGGGGCAGGAGACAGCTGCTCACTGCCCAGGCCTGTGCAGGCATAAACAGACTTGGGGATGGCCAGGCCCAGGGTGGGAGGCATATCTTGGGAAGTGGATTTCAACAGGTGACTTGTTTGACCAGGCCCAGCCGCAGCCCCAGCCCCAGCCCCAGCCCCAAGCCCAGTCTCAGCCACCGTCATCCAACAAGCGTCCCAGCAATAGCACGCCGCCCCCCACGCAGCTCAGCAAAATCAAGTACTCAGGGGGGCCCCAGATTGTCAAGAAGGAGCGACGGCAAAGCTCCTCCCGCTTCAACCTCAGCAAGAATCGGGAGCTGCAGAAGCTTCCTGCCCTGAAAGGTACTTGGCAATTGGTCACAGGGGCTGTTTTACCAGTTCTAGTGGGCATCGGGAGTTGGTGGAATGGAAGTTTTGGGGTATTTTGCGGGGAAGGGAGTTCCAGAGAATGCGGGAAGGGGGTGCCAGGGAGCAGGATGGTGGCAGGGTGGGGTAAGGGAAAGCCCTTGAAGGCAAGCAGGGCATCGCAGTGAAGGACTACAGAGGAGAACCTGACTGCTGGGGCCCCCACAGATTCGCCAACCCAGGAGCGGGAGGAGCTGTTTATCCAGAAGCTACGCCAGTGCTGTGTCCTCTTTGACTTCGTGTCAGACCCACTCAGTGACCTCAAATTCAAGGAGGTGAAGCGGGCAGGACTCAACGAGATGGTGGAGTACATCACCCATAGCCGTGATGTTGTCACTGAGGCCATTTACCCTGAGGCTGTCACCATGGTGGGCACAGGGAAAGGACACAGGGGGGACTGGTGAGGGGCTCTGGAGAAGCCCAGGTGGAGCTCTAACTGGCCCTACCCCTCAGTTTTCAGTGAACCTCTTCCGGACGCTGCCACCTTCATCGAATCCCACAGGGGCTGAGTTTGACCCAGAGGAAGATGAGCCCACCCTGGAAGCTGCTTGGCCACATCTCCAGGTACCAGGGCAAGGGGGCAGATTGGCCGTGGCTGCAGGGAGTGGGGCACTTGGAGGCCTGCAAGTCCTTGGGAACATCCCCTCAGTGGCGTGCCTTTTCCCCTATAGCTCGTGTATGAGTTCTTCTTACGTTTCCTTGAGTCTCCTGATTTCCAGCCAAACATAGCCAAGAAGTACATCGACCAGAAGTTTGTACTTGCTGTGAGTCCCCGAGTTCCTGTCCTTGCCCTCTCTTTCCATTCCATGCCCCCTTCATCTGTGTCCCAGTGGCTCTTTCCCCTTAAGCTGAATATATTGGGTTTCATCCATGTCTGGTACGAGGAGGCTATAAAGGGTAAAAAACAAAACAAAACAAAACCCTACTCTGGCCTTAAGAAACTAACAACATAATGGTAGGAAACAAAAAAGCAACAGAGTACCTCTCTCAGGTCAATAGTGAGGCATCACTTTGGAAGTCTCAGTACAAATACAATAGAATCAGCAATATAATAGAATCACTGCTTTCTAAGACTTGCTGGCCCCCACTCCAGGGGACCTCTGCATTTCCCCTGGCGGGACCTATGTCACCCTGGCCACTGCCTTCCCTGGCTGCTGCCTCACTGGCTGCTTTCCCTCCCTTGTACCCCCAGCTCCTAGACCTATTTGACAGTGAGGATCCTCGAGAGCGGGACTTCCTCAAGACCATTTTGCATCGCATCTATGGCAAGTTTTTGGGGCTCCGGGCTTATATCCGTAGGCAGATCAACCACATCTTCTACAGGTGAGGCCAGGAGCCCAGGCTTAGGAGCAAAACCTTCTGCTACTGAGGTGGGGTGGGAGCAGGGAGGTGGGGGGACTGTACAGAATGCTGGAGGGACATCAGGGGTTGTCAAGAGAGCCATTTTTCTTCCCTCAGGTTCATCTACGAGACGGAGCATCACAACGGGATTGCTGAGCTCCTGGAGATCCTGGGCAGGTGAGAGGCCGGGTGGGGGCACAGATGCCTGAAAAAGGTTGGCAGGATTGGTGTACTGAACTTGGATCTGACCCTCTGGTCCTAACAAATGTCCCTTAATTCCTAGCATCATCAATGGCTTTGCCCTGCCCCTTAAAGAAGAGCACAAGATGTTCCTCATCCGTGTCCTACTTCCCCTTCACAAGGTCAAGTCCCTGAGTGTCTACCACCCTCAGGTGAGCTGCCTTCCTCCTTATAATGTCCAACTCAGGCAGCAGAGAAAAGAGCCGGCAGGAAAGTGTTCCAGCTGGGATAGGGGAAGCATAGGGAGCAGGTGGGATAATTCCTTCCCTCCATCTCCCCTTCCCTTCTGGGATCTTGTTTCTATCACTGACTTCTCTGAGAGCTTCTAGGACCTACACCTCACCTCCCTTCTACCTCACACCTTTGCAGCTGGCATACTGTGTGGTACAATTCCTGGAGAAGGAGAGCAGTCTGACTGAGCCGGTAATTCCCCTTCCGGGCCCCAAGGCCCACCTCTTACTGTCAGCATCACTTGCCAGTCTGTACCTACTGGGGGTGCCATAAGGGGGAACTCAGGAGGGCTGTGACCTGACCGGTAACATGGTTTCCTCTCTGAAGGGGAAGCAAAACCTATATACACCTAGGAAACAGATCCAAGGCAAAGAAACGGGTAGCTGGCTGAGATCACCCAAACTGTGCCCACCAGGGTGGGGGAGAGAGCAGGTAGGAAAACTTCCTGGTGACCTAGGCAGGTGCAAAGAATTTTCATCCCCATGCCCTCCTTGTCTCCCAGGTAATTGTGGGACTTCTCAAGTTTTGGCCCAAGACCCACAGCCCCAAGGAGGTGATGTTCTTGAATGAGCTGGAGGAGATTCTGGACGTCATTGAACCTTCTGAGTTCAGCAAAGTGATGGAACCCCTCTTCCGCCAGCTGGCCAAGTGTGTCTCTAGCCCCCATTTCCAGGTGAGACTCCAACCTAGCATATCCTAGCCCCTGCCAGAAACTGAGGTCTTGAGTGAAATGAGCAGCACCCACCGAGTCTGCCTCTCCCCACCAGG
|
ATTTCTAGTAAAGTCCTAAGACATGGGAATGAATTTCTTTCTTTTACCTTTTTAAATTTGAAAATTTTTATCTTTAGAGACAGTGTTGTTTTGTTGTTCAGGCTGGAGTGCAGTTGGTGTGATCATAGCTCATGGGAGACTTGAACTCCTGGGCGCAAGGGATCCTCCAACCTTGAGTAGCTGGAACTCCAGTAAGCTTCCTGAGTAGCTGGAACTGCAGGCATGTGCCACCACACCTGGCTAATTAAAAAAAATTTTTTGTAGAGATGGGGTCTTGCTACGTTGTTCAGGCTGGTTTCAAACTTCTGGCTTCAAGTAATCCTCCTGCTTTGGCTTCCCAAAGTGTTGGGATTACAGGCTTTGGCCACTGTGCCTGGCCTTTCTTTTACCTTTTGTTTTGTTTTTTTTTTTTGAGACAAAGTCTCGCTCTTGTCCCCCAGGCTGGAGTGCAATGGCATGATCTCGGCTCACTGCAACCTCCGCCTCCTGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGATTACAGGCGCCTGCCACCACGCCTGGCTAATGTTTGTATTTTTAGTAGAGATGGGGTTTCACCATGTTGGCCTGGCTGGTCTTGAACTCTTGACCTCAGGTGATCTGCCCTCCTCGGCCTCCCAAAGTGCTGGGATTACAAGTGTGAGCCACTGCGCCCGGCCTCTTCTACCTTTTGATTGGAGACTGTCATACATTCAGTAAAGGATCTTAAGTGTACTGCTCAATAAATTTTAGGTATGTATCTGCCATGCACCACCTTGCAGGTCCAGTCAAGATACAGGATGTTTACATTACTCAGAAGGCTCCTCATGTCTCTTCTTATTCCTCATGTGTCTTCTTATTCATCATGTGTCTTCTTAGCAATACCCACCCCATTTCCCCTGGCAACGTAATCACTTTTTTGACTTCTGTCACCATCAATCTATCAATTAGCTTTACCTGTTCATGAACTGGAATGAACGTTTTAAAGGCTCTTGATGCACAAGCAGTGGGCATCTCTTTGGGTGATGTGACTTCTTGACTGCTCCCTGCCAGGGCTACAGCACAGTTATCTCTGTAACCCTGGCCTTAGCTCCTTCGGGGCAGGAGACAGCTGCTCACTGCCCAGGCCTGTGCAGGCATAAACAGACTTGGGGATGGCCAGGCCCAGGGTGGGAGGCATATCTTGGGAAGTGGATTTCAACAGGTGACTTGTTTGACCAGGCCCAGCCGCAGCCCCAGCCCCAGCCCCAGCCCCAAGCCCAGTCTCAGCCACCGTCATCCAACAAGCGTCCCAGCAATAGCACGCCGCCCCCCACGCAGCTCAGCAAAATCAAGTACTCAGGGGGGCCCCAGATTGTCAAGAAGGAGCGACGGCAAAGCTCCTCCCGCTTCAACCTCAGCAAGAATCGGGAGCTGCAGAAGCTTCCTGCCCTGAAAGGTACTTGGCAATTGGTCACAGGGGCTGTTTTACCAGTTCTAGTGGGCATCGGGAGTTGGTGGAATGGAAGTTTTGGGGTATTTTGCGGGGAAGGGAGTTCCAGAGAATGCGGGAAGGGGGTGCCAGGGAGCAGGATGGTGGCAGGGTGGGGTAAGGGAAAGCCCTTGAAGGCAAGCAGGGCATCGCAGTGAAGGACTACAGAGGAGAACCTGACTGCTGGGGCCCCCACAGATTCGCCAACCCAGGAGCGGGAGGAGCTGTTTATCCAGAAGCTACGCCAGTGCTGTGTCCTCTTTGACTTCGTGTCAGACCCACTCAGTGACCTCAAATTCAAGGAGGTGAAGCGGGCAGGACTCAACGAGATGGTGGAGTACATCACCCATAGCCGTGATGTTGTCACTGAGGCCATTTACCCTGAGGCTGTCACCATGGTGGGCACAGGGAAAGGACACAGGGGGGACTGGTGAGGGGCTCTGGAGAAGCCCAGGTGGAGCTCTAACTGGCCCTACCCCTCAGTTTTCAGTGAACCTCTTCCGGACGCTGCCACCTTCATCGAATCCCACAGGGGCTGAGTTTGACCCAGAGGAAGATGAGCGCACCCTGGAAGCTGCTTGGCCACATCTCCAGGTACCAGGGCAAGGGGGCAGATTGGCCGTGGCTGCAGGGAGTGGGGCACTTGGAGGCCTGCAAGTCCTTGGGAACATCCCCTCAGTGGCGTGCCTTTTCCCCTATAGCTCGTGTATGAGTTCTTCTTACGTTTCCTTGAGTCTCCTGATTTCCAGCCAAACATAGCCAAGAAGTACATCGACCAGAAGTTTGTACTTGCTGTGAGTCCCCGAGTTCCTGTCCTTGCCCTCTCTTTCCATTCCATGCCCCCTTCATCTGTGTCCCAGTGGCTCTTTCCCCTTAAGCTGAATATATTGGGTTTCATCCATGTCTGGTACGAGGAGGCTATAAAGGGTAAAAAACAAAACAAAACAAAACCCTACTCTGGCCTTAAGAAACTAACAACATAATGGTAGGAAACAAAAAAGCAACAGAGTACCTCTCTCAGGTCAATAGTGAGGCATCACTTTGGAAGTCTCAGTACAAATACAATAGAATCAGCAATATAATAGAATCACTGCTTTCTAAGACTTGCTGGCCCCCACTCCAGGGGACCTCTGCATTTCCCCTGGCGGGACCTATGTCACCCTGGCCACTGCCTTCCCTGGCTGCTGCCTCACTGGCTGCTTTCCCTCCCTTGTACCCCCAGCTCCTAGACCTATTTGACAGTGAGGATCCTCGAGAGCGGGACTTCCTCAAGACCATTTTGCATCGCATCTATGGCAAGTTTTTGGGGCTCCGGGCTTATATCCGTAGGCAGATCAACCACATCTTCTACAGGTGAGGCCAGGAGCCCAGGCTTAGGAGCAAAACCTTCTGCTACTGAGGTGGGGTGGGAGCAGGGAGGTGGGGGGACTGTACAGAATGCTGGAGGGACATCAGGGGTTGTCAAGAGAGCCATTTTTCTTCCCTCAGGTTCATCTACGAGACGGAGCATCACAACGGGATTGCTGAGCTCCTGGAGATCCTGGGCAGGTGAGAGGCCGGGTGGGGGCACAGATGCCTGAAAAAGGTTGGCAGGATTGGTGTACTGAACTTGGATCTGACCCTCTGGTCCTAACAAATGTCCCTTAATTCCTAGCATCATCAATGGCTTTGCCCTGCCCCTTAAAGAAGAGCACAAGATGTTCCTCATCCGTGTCCTACTTCCCCTTCACAAGGTCAAGTCCCTGAGTGTCTACCACCCTCAGGTGAGCTGCCTTCCTCCTTATAATGTCCAACTCAGGCAGCAGAGAAAAGAGCCGGCAGGAAAGTGTTCCAGCTGGGATAGGGGAAGCATAGGGAGCAGGTGGGATAATTCCTTCCCTCCATCTCCCCTTCCCTTCTGGGATCTTGTTTCTATCACTGACTTCTCTGAGAGCTTCTAGGACCTACACCTCACCTCCCTTCTACCTCACACCTTTGCAGCTGGCATACTGTGTGGTACAATTCCTGGAGAAGGAGAGCAGTCTGACTGAGCCGGTAATTCCCCTTCCGGGCCCCAAGGCCCACCTCTTACTGTCAGCATCACTTGCCAGTCTGTACCTACTGGGGGTGCCATAAGGGGGAACTCAGGAGGGCTGTGACCTGACCGGTAACATGGTTTCCTCTCTGAAGGGGAAGCAAAACCTATATACACCTAGGAAACAGATCCAAGGCAAAGAAACGGGTAGCTGGCTGAGATCACCCAAACTGTGCCCACCAGGGTGGGGGAGAGAGCAGGTAGGAAAACTTCCTGGTGACCTAGGCAGGTGCAAAGAATTTTCATCCCCATGCCCTCCTTGTCTCCCAGGTAATTGTGGGACTTCTCAAGTTTTGGCCCAAGACCCACAGCCCCAAGGAGGTGATGTTCTTGAATGAGCTGGAGGAGATTCTGGACGTCATTGAACCTTCTGAGTTCAGCAAAGTGATGGAACCCCTCTTCCGCCAGCTGGCCAAGTGTGTCTCTAGCCCCCATTTCCAGGTGAGACTCCAACCTAGCATATCCTAGCCCCTGCCAGAAACTGAGGTCTTGAGTGAAATGAGCAGCACCCACCGAGTCTGCCTCTCCCCACCAGG
|
Task1_train_10363
|
A genomic change on Chromosome 6 affects PPP2R5D (protein phosphatase 2 regulatory subunit B'delta). Classify this variant as benign or pathogenic, and name the disease if relevant.
|
Pathogenic; not provided
|
AAGACATGGGAATGAATTTCTTTCTTTTACCTTTTTAAATTTGAAAATTTTTATCTTTAGAGACAGTGTTGTTTTGTTGTTCAGGCTGGAGTGCAGTTGGTGTGATCATAGCTCATGGGAGACTTGAACTCCTGGGCGCAAGGGATCCTCCAACCTTGAGTAGCTGGAACTCCAGTAAGCTTCCTGAGTAGCTGGAACTGCAGGCATGTGCCACCACACCTGGCTAATTAAAAAAAATTTTTTGTAGAGATGGGGTCTTGCTACGTTGTTCAGGCTGGTTTCAAACTTCTGGCTTCAAGTAATCCTCCTGCTTTGGCTTCCCAAAGTGTTGGGATTACAGGCTTTGGCCACTGTGCCTGGCCTTTCTTTTACCTTTTGTTTTGTTTTTTTTTTTTGAGACAAAGTCTCGCTCTTGTCCCCCAGGCTGGAGTGCAATGGCATGATCTCGGCTCACTGCAACCTCCGCCTCCTGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGATTACAGGCGCCTGCCACCACGCCTGGCTAATGTTTGTATTTTTAGTAGAGATGGGGTTTCACCATGTTGGCCTGGCTGGTCTTGAACTCTTGACCTCAGGTGATCTGCCCTCCTCGGCCTCCCAAAGTGCTGGGATTACAAGTGTGAGCCACTGCGCCCGGCCTCTTCTACCTTTTGATTGGAGACTGTCATACATTCAGTAAAGGATCTTAAGTGTACTGCTCAATAAATTTTAGGTATGTATCTGCCATGCACCACCTTGCAGGTCCAGTCAAGATACAGGATGTTTACATTACTCAGAAGGCTCCTCATGTCTCTTCTTATTCCTCATGTGTCTTCTTATTCATCATGTGTCTTCTTAGCAATACCCACCCCATTTCCCCTGGCAACGTAATCACTTTTTTGACTTCTGTCACCATCAATCTATCAATTAGCTTTACCTGTTCATGAACTGGAATGAACGTTTTAAAGGCTCTTGATGCACAAGCAGTGGGCATCTCTTTGGGTGATGTGACTTCTTGACTGCTCCCTGCCAGGGCTACAGCACAGTTATCTCTGTAACCCTGGCCTTAGCTCCTTCGGGGCAGGAGACAGCTGCTCACTGCCCAGGCCTGTGCAGGCATAAACAGACTTGGGGATGGCCAGGCCCAGGGTGGGAGGCATATCTTGGGAAGTGGATTTCAACAGGTGACTTGTTTGACCAGGCCCAGCCGCAGCCCCAGCCCCAGCCCCAGCCCCAAGCCCAGTCTCAGCCACCGTCATCCAACAAGCGTCCCAGCAATAGCACGCCGCCCCCCACGCAGCTCAGCAAAATCAAGTACTCAGGGGGGCCCCAGATTGTCAAGAAGGAGCGACGGCAAAGCTCCTCCCGCTTCAACCTCAGCAAGAATCGGGAGCTGCAGAAGCTTCCTGCCCTGAAAGGTACTTGGCAATTGGTCACAGGGGCTGTTTTACCAGTTCTAGTGGGCATCGGGAGTTGGTGGAATGGAAGTTTTGGGGTATTTTGCGGGGAAGGGAGTTCCAGAGAATGCGGGAAGGGGGTGCCAGGGAGCAGGATGGTGGCAGGGTGGGGTAAGGGAAAGCCCTTGAAGGCAAGCAGGGCATCGCAGTGAAGGACTACAGAGGAGAACCTGACTGCTGGGGCCCCCACAGATTCGCCAACCCAGGAGCGGGAGGAGCTGTTTATCCAGAAGCTACGCCAGTGCTGTGTCCTCTTTGACTTCGTGTCAGACCCACTCAGTGACCTCAAATTCAAGGAGGTGAAGCGGGCAGGACTCAACGAGATGGTGGAGTACATCACCCATAGCCGTGATGTTGTCACTGAGGCCATTTACCCTGAGGCTGTCACCATGGTGGGCACAGGGAAAGGACACAGGGGGGACTGGTGAGGGGCTCTGGAGAAGCCCAGGTGGAGCTCTAACTGGCCCTACCCCTCAGTTTTCAGTGAACCTCTTCCGGACGCTGCCACCTTCATCGAATCCCACAGGGGCTGAGTTTGACCCAGAGGAAGATGAGCCCACCCTGGAAGCTGCTTGGCCACATCTCCAGGTACCAGGGCAAGGGGGCAGATTGGCCGTGGCTGCAGGGAGTGGGGCACTTGGAGGCCTGCAAGTCCTTGGGAACATCCCCTCAGTGGCGTGCCTTTTCCCCTATAGCTCGTGTATGAGTTCTTCTTACGTTTCCTTGAGTCTCCTGATTTCCAGCCAAACATAGCCAAGAAGTACATCGACCAGAAGTTTGTACTTGCTGTGAGTCCCCGAGTTCCTGTCCTTGCCCTCTCTTTCCATTCCATGCCCCCTTCATCTGTGTCCCAGTGGCTCTTTCCCCTTAAGCTGAATATATTGGGTTTCATCCATGTCTGGTACGAGGAGGCTATAAAGGGTAAAAAACAAAACAAAACAAAACCCTACTCTGGCCTTAAGAAACTAACAACATAATGGTAGGAAACAAAAAAGCAACAGAGTACCTCTCTCAGGTCAATAGTGAGGCATCACTTTGGAAGTCTCAGTACAAATACAATAGAATCAGCAATATAATAGAATCACTGCTTTCTAAGACTTGCTGGCCCCCACTCCAGGGGACCTCTGCATTTCCCCTGGCGGGACCTATGTCACCCTGGCCACTGCCTTCCCTGGCTGCTGCCTCACTGGCTGCTTTCCCTCCCTTGTACCCCCAGCTCCTAGACCTATTTGACAGTGAGGATCCTCGAGAGCGGGACTTCCTCAAGACCATTTTGCATCGCATCTATGGCAAGTTTTTGGGGCTCCGGGCTTATATCCGTAGGCAGATCAACCACATCTTCTACAGGTGAGGCCAGGAGCCCAGGCTTAGGAGCAAAACCTTCTGCTACTGAGGTGGGGTGGGAGCAGGGAGGTGGGGGGACTGTACAGAATGCTGGAGGGACATCAGGGGTTGTCAAGAGAGCCATTTTTCTTCCCTCAGGTTCATCTACGAGACGGAGCATCACAACGGGATTGCTGAGCTCCTGGAGATCCTGGGCAGGTGAGAGGCCGGGTGGGGGCACAGATGCCTGAAAAAGGTTGGCAGGATTGGTGTACTGAACTTGGATCTGACCCTCTGGTCCTAACAAATGTCCCTTAATTCCTAGCATCATCAATGGCTTTGCCCTGCCCCTTAAAGAAGAGCACAAGATGTTCCTCATCCGTGTCCTACTTCCCCTTCACAAGGTCAAGTCCCTGAGTGTCTACCACCCTCAGGTGAGCTGCCTTCCTCCTTATAATGTCCAACTCAGGCAGCAGAGAAAAGAGCCGGCAGGAAAGTGTTCCAGCTGGGATAGGGGAAGCATAGGGAGCAGGTGGGATAATTCCTTCCCTCCATCTCCCCTTCCCTTCTGGGATCTTGTTTCTATCACTGACTTCTCTGAGAGCTTCTAGGACCTACACCTCACCTCCCTTCTACCTCACACCTTTGCAGCTGGCATACTGTGTGGTACAATTCCTGGAGAAGGAGAGCAGTCTGACTGAGCCGGTAATTCCCCTTCCGGGCCCCAAGGCCCACCTCTTACTGTCAGCATCACTTGCCAGTCTGTACCTACTGGGGGTGCCATAAGGGGGAACTCAGGAGGGCTGTGACCTGACCGGTAACATGGTTTCCTCTCTGAAGGGGAAGCAAAACCTATATACACCTAGGAAACAGATCCAAGGCAAAGAAACGGGTAGCTGGCTGAGATCACCCAAACTGTGCCCACCAGGGTGGGGGAGAGAGCAGGTAGGAAAACTTCCTGGTGACCTAGGCAGGTGCAAAGAATTTTCATCCCCATGCCCTCCTTGTCTCCCAGGTAATTGTGGGACTTCTCAAGTTTTGGCCCAAGACCCACAGCCCCAAGGAGGTGATGTTCTTGAATGAGCTGGAGGAGATTCTGGACGTCATTGAACCTTCTGAGTTCAGCAAAGTGATGGAACCCCTCTTCCGCCAGCTGGCCAAGTGTGTCTCTAGCCCCCATTTCCAGGTGAGACTCCAACCTAGCATATCCTAGCCCCTGCCAGAAACTGAGGTCTTGAGTGAAATGAGCAGCACCCACCGAGTCTGCCTCTCCCCACCAGGTGGCAGAGCGTGCTCTC
|
AAGACATGGGAATGAATTTCTTTCTTTTACCTTTTTAAATTTGAAAATTTTTATCTTTAGAGACAGTGTTGTTTTGTTGTTCAGGCTGGAGTGCAGTTGGTGTGATCATAGCTCATGGGAGACTTGAACTCCTGGGCGCAAGGGATCCTCCAACCTTGAGTAGCTGGAACTCCAGTAAGCTTCCTGAGTAGCTGGAACTGCAGGCATGTGCCACCACACCTGGCTAATTAAAAAAAATTTTTTGTAGAGATGGGGTCTTGCTACGTTGTTCAGGCTGGTTTCAAACTTCTGGCTTCAAGTAATCCTCCTGCTTTGGCTTCCCAAAGTGTTGGGATTACAGGCTTTGGCCACTGTGCCTGGCCTTTCTTTTACCTTTTGTTTTGTTTTTTTTTTTTGAGACAAAGTCTCGCTCTTGTCCCCCAGGCTGGAGTGCAATGGCATGATCTCGGCTCACTGCAACCTCCGCCTCCTGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGATTACAGGCGCCTGCCACCACGCCTGGCTAATGTTTGTATTTTTAGTAGAGATGGGGTTTCACCATGTTGGCCTGGCTGGTCTTGAACTCTTGACCTCAGGTGATCTGCCCTCCTCGGCCTCCCAAAGTGCTGGGATTACAAGTGTGAGCCACTGCGCCCGGCCTCTTCTACCTTTTGATTGGAGACTGTCATACATTCAGTAAAGGATCTTAAGTGTACTGCTCAATAAATTTTAGGTATGTATCTGCCATGCACCACCTTGCAGGTCCAGTCAAGATACAGGATGTTTACATTACTCAGAAGGCTCCTCATGTCTCTTCTTATTCCTCATGTGTCTTCTTATTCATCATGTGTCTTCTTAGCAATACCCACCCCATTTCCCCTGGCAACGTAATCACTTTTTTGACTTCTGTCACCATCAATCTATCAATTAGCTTTACCTGTTCATGAACTGGAATGAACGTTTTAAAGGCTCTTGATGCACAAGCAGTGGGCATCTCTTTGGGTGATGTGACTTCTTGACTGCTCCCTGCCAGGGCTACAGCACAGTTATCTCTGTAACCCTGGCCTTAGCTCCTTCGGGGCAGGAGACAGCTGCTCACTGCCCAGGCCTGTGCAGGCATAAACAGACTTGGGGATGGCCAGGCCCAGGGTGGGAGGCATATCTTGGGAAGTGGATTTCAACAGGTGACTTGTTTGACCAGGCCCAGCCGCAGCCCCAGCCCCAGCCCCAGCCCCAAGCCCAGTCTCAGCCACCGTCATCCAACAAGCGTCCCAGCAATAGCACGCCGCCCCCCACGCAGCTCAGCAAAATCAAGTACTCAGGGGGGCCCCAGATTGTCAAGAAGGAGCGACGGCAAAGCTCCTCCCGCTTCAACCTCAGCAAGAATCGGGAGCTGCAGAAGCTTCCTGCCCTGAAAGGTACTTGGCAATTGGTCACAGGGGCTGTTTTACCAGTTCTAGTGGGCATCGGGAGTTGGTGGAATGGAAGTTTTGGGGTATTTTGCGGGGAAGGGAGTTCCAGAGAATGCGGGAAGGGGGTGCCAGGGAGCAGGATGGTGGCAGGGTGGGGTAAGGGAAAGCCCTTGAAGGCAAGCAGGGCATCGCAGTGAAGGACTACAGAGGAGAACCTGACTGCTGGGGCCCCCACAGATTCGCCAACCCAGGAGCGGGAGGAGCTGTTTATCCAGAAGCTACGCCAGTGCTGTGTCCTCTTTGACTTCGTGTCAGACCCACTCAGTGACCTCAAATTCAAGGAGGTGAAGCGGGCAGGACTCAACGAGATGGTGGAGTACATCACCCATAGCCGTGATGTTGTCACTGAGGCCATTTACCCTGAGGCTGTCACCATGGTGGGCACAGGGAAAGGACACAGGGGGGACTGGTGAGGGGCTCTGGAGAAGCCCAGGTGGAGCTCTAACTGGCCCTACCCCTCAGTTTTCAGTGAACCTCTTCCGGACGCTGCCACCTTCATCGAATCCCACAGGGGCTGAGTTTGACCCAGAGGAAGATGAGCCCACCCTGGAAGCTGCTAGGCCACATCTCCAGGTACCAGGGCAAGGGGGCAGATTGGCCGTGGCTGCAGGGAGTGGGGCACTTGGAGGCCTGCAAGTCCTTGGGAACATCCCCTCAGTGGCGTGCCTTTTCCCCTATAGCTCGTGTATGAGTTCTTCTTACGTTTCCTTGAGTCTCCTGATTTCCAGCCAAACATAGCCAAGAAGTACATCGACCAGAAGTTTGTACTTGCTGTGAGTCCCCGAGTTCCTGTCCTTGCCCTCTCTTTCCATTCCATGCCCCCTTCATCTGTGTCCCAGTGGCTCTTTCCCCTTAAGCTGAATATATTGGGTTTCATCCATGTCTGGTACGAGGAGGCTATAAAGGGTAAAAAACAAAACAAAACAAAACCCTACTCTGGCCTTAAGAAACTAACAACATAATGGTAGGAAACAAAAAAGCAACAGAGTACCTCTCTCAGGTCAATAGTGAGGCATCACTTTGGAAGTCTCAGTACAAATACAATAGAATCAGCAATATAATAGAATCACTGCTTTCTAAGACTTGCTGGCCCCCACTCCAGGGGACCTCTGCATTTCCCCTGGCGGGACCTATGTCACCCTGGCCACTGCCTTCCCTGGCTGCTGCCTCACTGGCTGCTTTCCCTCCCTTGTACCCCCAGCTCCTAGACCTATTTGACAGTGAGGATCCTCGAGAGCGGGACTTCCTCAAGACCATTTTGCATCGCATCTATGGCAAGTTTTTGGGGCTCCGGGCTTATATCCGTAGGCAGATCAACCACATCTTCTACAGGTGAGGCCAGGAGCCCAGGCTTAGGAGCAAAACCTTCTGCTACTGAGGTGGGGTGGGAGCAGGGAGGTGGGGGGACTGTACAGAATGCTGGAGGGACATCAGGGGTTGTCAAGAGAGCCATTTTTCTTCCCTCAGGTTCATCTACGAGACGGAGCATCACAACGGGATTGCTGAGCTCCTGGAGATCCTGGGCAGGTGAGAGGCCGGGTGGGGGCACAGATGCCTGAAAAAGGTTGGCAGGATTGGTGTACTGAACTTGGATCTGACCCTCTGGTCCTAACAAATGTCCCTTAATTCCTAGCATCATCAATGGCTTTGCCCTGCCCCTTAAAGAAGAGCACAAGATGTTCCTCATCCGTGTCCTACTTCCCCTTCACAAGGTCAAGTCCCTGAGTGTCTACCACCCTCAGGTGAGCTGCCTTCCTCCTTATAATGTCCAACTCAGGCAGCAGAGAAAAGAGCCGGCAGGAAAGTGTTCCAGCTGGGATAGGGGAAGCATAGGGAGCAGGTGGGATAATTCCTTCCCTCCATCTCCCCTTCCCTTCTGGGATCTTGTTTCTATCACTGACTTCTCTGAGAGCTTCTAGGACCTACACCTCACCTCCCTTCTACCTCACACCTTTGCAGCTGGCATACTGTGTGGTACAATTCCTGGAGAAGGAGAGCAGTCTGACTGAGCCGGTAATTCCCCTTCCGGGCCCCAAGGCCCACCTCTTACTGTCAGCATCACTTGCCAGTCTGTACCTACTGGGGGTGCCATAAGGGGGAACTCAGGAGGGCTGTGACCTGACCGGTAACATGGTTTCCTCTCTGAAGGGGAAGCAAAACCTATATACACCTAGGAAACAGATCCAAGGCAAAGAAACGGGTAGCTGGCTGAGATCACCCAAACTGTGCCCACCAGGGTGGGGGAGAGAGCAGGTAGGAAAACTTCCTGGTGACCTAGGCAGGTGCAAAGAATTTTCATCCCCATGCCCTCCTTGTCTCCCAGGTAATTGTGGGACTTCTCAAGTTTTGGCCCAAGACCCACAGCCCCAAGGAGGTGATGTTCTTGAATGAGCTGGAGGAGATTCTGGACGTCATTGAACCTTCTGAGTTCAGCAAAGTGATGGAACCCCTCTTCCGCCAGCTGGCCAAGTGTGTCTCTAGCCCCCATTTCCAGGTGAGACTCCAACCTAGCATATCCTAGCCCCTGCCAGAAACTGAGGTCTTGAGTGAAATGAGCAGCACCCACCGAGTCTGCCTCTCCCCACCAGGTGGCAGAGCGTGCTCTC
|
Task1_train_10364
|
The gene PPP2R5D (protein phosphatase 2 regulatory subunit B'delta) on Chromosome 6 carries this variant. Does this mutation lead to a specific disease, or is it non-pathogenic?
|
Pathogenic; Hogue-Janssens syndrome 1
|
AGACATGGGAATGAATTTCTTTCTTTTACCTTTTTAAATTTGAAAATTTTTATCTTTAGAGACAGTGTTGTTTTGTTGTTCAGGCTGGAGTGCAGTTGGTGTGATCATAGCTCATGGGAGACTTGAACTCCTGGGCGCAAGGGATCCTCCAACCTTGAGTAGCTGGAACTCCAGTAAGCTTCCTGAGTAGCTGGAACTGCAGGCATGTGCCACCACACCTGGCTAATTAAAAAAAATTTTTTGTAGAGATGGGGTCTTGCTACGTTGTTCAGGCTGGTTTCAAACTTCTGGCTTCAAGTAATCCTCCTGCTTTGGCTTCCCAAAGTGTTGGGATTACAGGCTTTGGCCACTGTGCCTGGCCTTTCTTTTACCTTTTGTTTTGTTTTTTTTTTTTGAGACAAAGTCTCGCTCTTGTCCCCCAGGCTGGAGTGCAATGGCATGATCTCGGCTCACTGCAACCTCCGCCTCCTGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGATTACAGGCGCCTGCCACCACGCCTGGCTAATGTTTGTATTTTTAGTAGAGATGGGGTTTCACCATGTTGGCCTGGCTGGTCTTGAACTCTTGACCTCAGGTGATCTGCCCTCCTCGGCCTCCCAAAGTGCTGGGATTACAAGTGTGAGCCACTGCGCCCGGCCTCTTCTACCTTTTGATTGGAGACTGTCATACATTCAGTAAAGGATCTTAAGTGTACTGCTCAATAAATTTTAGGTATGTATCTGCCATGCACCACCTTGCAGGTCCAGTCAAGATACAGGATGTTTACATTACTCAGAAGGCTCCTCATGTCTCTTCTTATTCCTCATGTGTCTTCTTATTCATCATGTGTCTTCTTAGCAATACCCACCCCATTTCCCCTGGCAACGTAATCACTTTTTTGACTTCTGTCACCATCAATCTATCAATTAGCTTTACCTGTTCATGAACTGGAATGAACGTTTTAAAGGCTCTTGATGCACAAGCAGTGGGCATCTCTTTGGGTGATGTGACTTCTTGACTGCTCCCTGCCAGGGCTACAGCACAGTTATCTCTGTAACCCTGGCCTTAGCTCCTTCGGGGCAGGAGACAGCTGCTCACTGCCCAGGCCTGTGCAGGCATAAACAGACTTGGGGATGGCCAGGCCCAGGGTGGGAGGCATATCTTGGGAAGTGGATTTCAACAGGTGACTTGTTTGACCAGGCCCAGCCGCAGCCCCAGCCCCAGCCCCAGCCCCAAGCCCAGTCTCAGCCACCGTCATCCAACAAGCGTCCCAGCAATAGCACGCCGCCCCCCACGCAGCTCAGCAAAATCAAGTACTCAGGGGGGCCCCAGATTGTCAAGAAGGAGCGACGGCAAAGCTCCTCCCGCTTCAACCTCAGCAAGAATCGGGAGCTGCAGAAGCTTCCTGCCCTGAAAGGTACTTGGCAATTGGTCACAGGGGCTGTTTTACCAGTTCTAGTGGGCATCGGGAGTTGGTGGAATGGAAGTTTTGGGGTATTTTGCGGGGAAGGGAGTTCCAGAGAATGCGGGAAGGGGGTGCCAGGGAGCAGGATGGTGGCAGGGTGGGGTAAGGGAAAGCCCTTGAAGGCAAGCAGGGCATCGCAGTGAAGGACTACAGAGGAGAACCTGACTGCTGGGGCCCCCACAGATTCGCCAACCCAGGAGCGGGAGGAGCTGTTTATCCAGAAGCTACGCCAGTGCTGTGTCCTCTTTGACTTCGTGTCAGACCCACTCAGTGACCTCAAATTCAAGGAGGTGAAGCGGGCAGGACTCAACGAGATGGTGGAGTACATCACCCATAGCCGTGATGTTGTCACTGAGGCCATTTACCCTGAGGCTGTCACCATGGTGGGCACAGGGAAAGGACACAGGGGGGACTGGTGAGGGGCTCTGGAGAAGCCCAGGTGGAGCTCTAACTGGCCCTACCCCTCAGTTTTCAGTGAACCTCTTCCGGACGCTGCCACCTTCATCGAATCCCACAGGGGCTGAGTTTGACCCAGAGGAAGATGAGCCCACCCTGGAAGCTGCTTGGCCACATCTCCAGGTACCAGGGCAAGGGGGCAGATTGGCCGTGGCTGCAGGGAGTGGGGCACTTGGAGGCCTGCAAGTCCTTGGGAACATCCCCTCAGTGGCGTGCCTTTTCCCCTATAGCTCGTGTATGAGTTCTTCTTACGTTTCCTTGAGTCTCCTGATTTCCAGCCAAACATAGCCAAGAAGTACATCGACCAGAAGTTTGTACTTGCTGTGAGTCCCCGAGTTCCTGTCCTTGCCCTCTCTTTCCATTCCATGCCCCCTTCATCTGTGTCCCAGTGGCTCTTTCCCCTTAAGCTGAATATATTGGGTTTCATCCATGTCTGGTACGAGGAGGCTATAAAGGGTAAAAAACAAAACAAAACAAAACCCTACTCTGGCCTTAAGAAACTAACAACATAATGGTAGGAAACAAAAAAGCAACAGAGTACCTCTCTCAGGTCAATAGTGAGGCATCACTTTGGAAGTCTCAGTACAAATACAATAGAATCAGCAATATAATAGAATCACTGCTTTCTAAGACTTGCTGGCCCCCACTCCAGGGGACCTCTGCATTTCCCCTGGCGGGACCTATGTCACCCTGGCCACTGCCTTCCCTGGCTGCTGCCTCACTGGCTGCTTTCCCTCCCTTGTACCCCCAGCTCCTAGACCTATTTGACAGTGAGGATCCTCGAGAGCGGGACTTCCTCAAGACCATTTTGCATCGCATCTATGGCAAGTTTTTGGGGCTCCGGGCTTATATCCGTAGGCAGATCAACCACATCTTCTACAGGTGAGGCCAGGAGCCCAGGCTTAGGAGCAAAACCTTCTGCTACTGAGGTGGGGTGGGAGCAGGGAGGTGGGGGGACTGTACAGAATGCTGGAGGGACATCAGGGGTTGTCAAGAGAGCCATTTTTCTTCCCTCAGGTTCATCTACGAGACGGAGCATCACAACGGGATTGCTGAGCTCCTGGAGATCCTGGGCAGGTGAGAGGCCGGGTGGGGGCACAGATGCCTGAAAAAGGTTGGCAGGATTGGTGTACTGAACTTGGATCTGACCCTCTGGTCCTAACAAATGTCCCTTAATTCCTAGCATCATCAATGGCTTTGCCCTGCCCCTTAAAGAAGAGCACAAGATGTTCCTCATCCGTGTCCTACTTCCCCTTCACAAGGTCAAGTCCCTGAGTGTCTACCACCCTCAGGTGAGCTGCCTTCCTCCTTATAATGTCCAACTCAGGCAGCAGAGAAAAGAGCCGGCAGGAAAGTGTTCCAGCTGGGATAGGGGAAGCATAGGGAGCAGGTGGGATAATTCCTTCCCTCCATCTCCCCTTCCCTTCTGGGATCTTGTTTCTATCACTGACTTCTCTGAGAGCTTCTAGGACCTACACCTCACCTCCCTTCTACCTCACACCTTTGCAGCTGGCATACTGTGTGGTACAATTCCTGGAGAAGGAGAGCAGTCTGACTGAGCCGGTAATTCCCCTTCCGGGCCCCAAGGCCCACCTCTTACTGTCAGCATCACTTGCCAGTCTGTACCTACTGGGGGTGCCATAAGGGGGAACTCAGGAGGGCTGTGACCTGACCGGTAACATGGTTTCCTCTCTGAAGGGGAAGCAAAACCTATATACACCTAGGAAACAGATCCAAGGCAAAGAAACGGGTAGCTGGCTGAGATCACCCAAACTGTGCCCACCAGGGTGGGGGAGAGAGCAGGTAGGAAAACTTCCTGGTGACCTAGGCAGGTGCAAAGAATTTTCATCCCCATGCCCTCCTTGTCTCCCAGGTAATTGTGGGACTTCTCAAGTTTTGGCCCAAGACCCACAGCCCCAAGGAGGTGATGTTCTTGAATGAGCTGGAGGAGATTCTGGACGTCATTGAACCTTCTGAGTTCAGCAAAGTGATGGAACCCCTCTTCCGCCAGCTGGCCAAGTGTGTCTCTAGCCCCCATTTCCAGGTGAGACTCCAACCTAGCATATCCTAGCCCCTGCCAGAAACTGAGGTCTTGAGTGAAATGAGCAGCACCCACCGAGTCTGCCTCTCCCCACCAGGTGGCAGAGCGTGCTCTCT
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AGACATGGGAATGAATTTCTTTCTTTTACCTTTTTAAATTTGAAAATTTTTATCTTTAGAGACAGTGTTGTTTTGTTGTTCAGGCTGGAGTGCAGTTGGTGTGATCATAGCTCATGGGAGACTTGAACTCCTGGGCGCAAGGGATCCTCCAACCTTGAGTAGCTGGAACTCCAGTAAGCTTCCTGAGTAGCTGGAACTGCAGGCATGTGCCACCACACCTGGCTAATTAAAAAAAATTTTTTGTAGAGATGGGGTCTTGCTACGTTGTTCAGGCTGGTTTCAAACTTCTGGCTTCAAGTAATCCTCCTGCTTTGGCTTCCCAAAGTGTTGGGATTACAGGCTTTGGCCACTGTGCCTGGCCTTTCTTTTACCTTTTGTTTTGTTTTTTTTTTTTGAGACAAAGTCTCGCTCTTGTCCCCCAGGCTGGAGTGCAATGGCATGATCTCGGCTCACTGCAACCTCCGCCTCCTGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGATTACAGGCGCCTGCCACCACGCCTGGCTAATGTTTGTATTTTTAGTAGAGATGGGGTTTCACCATGTTGGCCTGGCTGGTCTTGAACTCTTGACCTCAGGTGATCTGCCCTCCTCGGCCTCCCAAAGTGCTGGGATTACAAGTGTGAGCCACTGCGCCCGGCCTCTTCTACCTTTTGATTGGAGACTGTCATACATTCAGTAAAGGATCTTAAGTGTACTGCTCAATAAATTTTAGGTATGTATCTGCCATGCACCACCTTGCAGGTCCAGTCAAGATACAGGATGTTTACATTACTCAGAAGGCTCCTCATGTCTCTTCTTATTCCTCATGTGTCTTCTTATTCATCATGTGTCTTCTTAGCAATACCCACCCCATTTCCCCTGGCAACGTAATCACTTTTTTGACTTCTGTCACCATCAATCTATCAATTAGCTTTACCTGTTCATGAACTGGAATGAACGTTTTAAAGGCTCTTGATGCACAAGCAGTGGGCATCTCTTTGGGTGATGTGACTTCTTGACTGCTCCCTGCCAGGGCTACAGCACAGTTATCTCTGTAACCCTGGCCTTAGCTCCTTCGGGGCAGGAGACAGCTGCTCACTGCCCAGGCCTGTGCAGGCATAAACAGACTTGGGGATGGCCAGGCCCAGGGTGGGAGGCATATCTTGGGAAGTGGATTTCAACAGGTGACTTGTTTGACCAGGCCCAGCCGCAGCCCCAGCCCCAGCCCCAGCCCCAAGCCCAGTCTCAGCCACCGTCATCCAACAAGCGTCCCAGCAATAGCACGCCGCCCCCCACGCAGCTCAGCAAAATCAAGTACTCAGGGGGGCCCCAGATTGTCAAGAAGGAGCGACGGCAAAGCTCCTCCCGCTTCAACCTCAGCAAGAATCGGGAGCTGCAGAAGCTTCCTGCCCTGAAAGGTACTTGGCAATTGGTCACAGGGGCTGTTTTACCAGTTCTAGTGGGCATCGGGAGTTGGTGGAATGGAAGTTTTGGGGTATTTTGCGGGGAAGGGAGTTCCAGAGAATGCGGGAAGGGGGTGCCAGGGAGCAGGATGGTGGCAGGGTGGGGTAAGGGAAAGCCCTTGAAGGCAAGCAGGGCATCGCAGTGAAGGACTACAGAGGAGAACCTGACTGCTGGGGCCCCCACAGATTCGCCAACCCAGGAGCGGGAGGAGCTGTTTATCCAGAAGCTACGCCAGTGCTGTGTCCTCTTTGACTTCGTGTCAGACCCACTCAGTGACCTCAAATTCAAGGAGGTGAAGCGGGCAGGACTCAACGAGATGGTGGAGTACATCACCCATAGCCGTGATGTTGTCACTGAGGCCATTTACCCTGAGGCTGTCACCATGGTGGGCACAGGGAAAGGACACAGGGGGGACTGGTGAGGGGCTCTGGAGAAGCCCAGGTGGAGCTCTAACTGGCCCTACCCCTCAGTTTTCAGTGAACCTCTTCCGGACGCTGCCACCTTCATCGAATCCCACAGGGGCTGAGTTTGACCCAGAGGAAGATGAGCCCACCCTGGAAGCTGCTTCGCCACATCTCCAGGTACCAGGGCAAGGGGGCAGATTGGCCGTGGCTGCAGGGAGTGGGGCACTTGGAGGCCTGCAAGTCCTTGGGAACATCCCCTCAGTGGCGTGCCTTTTCCCCTATAGCTCGTGTATGAGTTCTTCTTACGTTTCCTTGAGTCTCCTGATTTCCAGCCAAACATAGCCAAGAAGTACATCGACCAGAAGTTTGTACTTGCTGTGAGTCCCCGAGTTCCTGTCCTTGCCCTCTCTTTCCATTCCATGCCCCCTTCATCTGTGTCCCAGTGGCTCTTTCCCCTTAAGCTGAATATATTGGGTTTCATCCATGTCTGGTACGAGGAGGCTATAAAGGGTAAAAAACAAAACAAAACAAAACCCTACTCTGGCCTTAAGAAACTAACAACATAATGGTAGGAAACAAAAAAGCAACAGAGTACCTCTCTCAGGTCAATAGTGAGGCATCACTTTGGAAGTCTCAGTACAAATACAATAGAATCAGCAATATAATAGAATCACTGCTTTCTAAGACTTGCTGGCCCCCACTCCAGGGGACCTCTGCATTTCCCCTGGCGGGACCTATGTCACCCTGGCCACTGCCTTCCCTGGCTGCTGCCTCACTGGCTGCTTTCCCTCCCTTGTACCCCCAGCTCCTAGACCTATTTGACAGTGAGGATCCTCGAGAGCGGGACTTCCTCAAGACCATTTTGCATCGCATCTATGGCAAGTTTTTGGGGCTCCGGGCTTATATCCGTAGGCAGATCAACCACATCTTCTACAGGTGAGGCCAGGAGCCCAGGCTTAGGAGCAAAACCTTCTGCTACTGAGGTGGGGTGGGAGCAGGGAGGTGGGGGGACTGTACAGAATGCTGGAGGGACATCAGGGGTTGTCAAGAGAGCCATTTTTCTTCCCTCAGGTTCATCTACGAGACGGAGCATCACAACGGGATTGCTGAGCTCCTGGAGATCCTGGGCAGGTGAGAGGCCGGGTGGGGGCACAGATGCCTGAAAAAGGTTGGCAGGATTGGTGTACTGAACTTGGATCTGACCCTCTGGTCCTAACAAATGTCCCTTAATTCCTAGCATCATCAATGGCTTTGCCCTGCCCCTTAAAGAAGAGCACAAGATGTTCCTCATCCGTGTCCTACTTCCCCTTCACAAGGTCAAGTCCCTGAGTGTCTACCACCCTCAGGTGAGCTGCCTTCCTCCTTATAATGTCCAACTCAGGCAGCAGAGAAAAGAGCCGGCAGGAAAGTGTTCCAGCTGGGATAGGGGAAGCATAGGGAGCAGGTGGGATAATTCCTTCCCTCCATCTCCCCTTCCCTTCTGGGATCTTGTTTCTATCACTGACTTCTCTGAGAGCTTCTAGGACCTACACCTCACCTCCCTTCTACCTCACACCTTTGCAGCTGGCATACTGTGTGGTACAATTCCTGGAGAAGGAGAGCAGTCTGACTGAGCCGGTAATTCCCCTTCCGGGCCCCAAGGCCCACCTCTTACTGTCAGCATCACTTGCCAGTCTGTACCTACTGGGGGTGCCATAAGGGGGAACTCAGGAGGGCTGTGACCTGACCGGTAACATGGTTTCCTCTCTGAAGGGGAAGCAAAACCTATATACACCTAGGAAACAGATCCAAGGCAAAGAAACGGGTAGCTGGCTGAGATCACCCAAACTGTGCCCACCAGGGTGGGGGAGAGAGCAGGTAGGAAAACTTCCTGGTGACCTAGGCAGGTGCAAAGAATTTTCATCCCCATGCCCTCCTTGTCTCCCAGGTAATTGTGGGACTTCTCAAGTTTTGGCCCAAGACCCACAGCCCCAAGGAGGTGATGTTCTTGAATGAGCTGGAGGAGATTCTGGACGTCATTGAACCTTCTGAGTTCAGCAAAGTGATGGAACCCCTCTTCCGCCAGCTGGCCAAGTGTGTCTCTAGCCCCCATTTCCAGGTGAGACTCCAACCTAGCATATCCTAGCCCCTGCCAGAAACTGAGGTCTTGAGTGAAATGAGCAGCACCCACCGAGTCTGCCTCTCCCCACCAGGTGGCAGAGCGTGCTCTCT
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Task1_train_10365
|
A genetic alteration is present in PPP2R5D (protein phosphatase 2 regulatory subunit B'delta) on Chromosome 6. Is this variant benign or disease-causing, and if the latter, which condition is involved?
|
Pathogenic; not provided
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GACATGGGAATGAATTTCTTTCTTTTACCTTTTTAAATTTGAAAATTTTTATCTTTAGAGACAGTGTTGTTTTGTTGTTCAGGCTGGAGTGCAGTTGGTGTGATCATAGCTCATGGGAGACTTGAACTCCTGGGCGCAAGGGATCCTCCAACCTTGAGTAGCTGGAACTCCAGTAAGCTTCCTGAGTAGCTGGAACTGCAGGCATGTGCCACCACACCTGGCTAATTAAAAAAAATTTTTTGTAGAGATGGGGTCTTGCTACGTTGTTCAGGCTGGTTTCAAACTTCTGGCTTCAAGTAATCCTCCTGCTTTGGCTTCCCAAAGTGTTGGGATTACAGGCTTTGGCCACTGTGCCTGGCCTTTCTTTTACCTTTTGTTTTGTTTTTTTTTTTTGAGACAAAGTCTCGCTCTTGTCCCCCAGGCTGGAGTGCAATGGCATGATCTCGGCTCACTGCAACCTCCGCCTCCTGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGATTACAGGCGCCTGCCACCACGCCTGGCTAATGTTTGTATTTTTAGTAGAGATGGGGTTTCACCATGTTGGCCTGGCTGGTCTTGAACTCTTGACCTCAGGTGATCTGCCCTCCTCGGCCTCCCAAAGTGCTGGGATTACAAGTGTGAGCCACTGCGCCCGGCCTCTTCTACCTTTTGATTGGAGACTGTCATACATTCAGTAAAGGATCTTAAGTGTACTGCTCAATAAATTTTAGGTATGTATCTGCCATGCACCACCTTGCAGGTCCAGTCAAGATACAGGATGTTTACATTACTCAGAAGGCTCCTCATGTCTCTTCTTATTCCTCATGTGTCTTCTTATTCATCATGTGTCTTCTTAGCAATACCCACCCCATTTCCCCTGGCAACGTAATCACTTTTTTGACTTCTGTCACCATCAATCTATCAATTAGCTTTACCTGTTCATGAACTGGAATGAACGTTTTAAAGGCTCTTGATGCACAAGCAGTGGGCATCTCTTTGGGTGATGTGACTTCTTGACTGCTCCCTGCCAGGGCTACAGCACAGTTATCTCTGTAACCCTGGCCTTAGCTCCTTCGGGGCAGGAGACAGCTGCTCACTGCCCAGGCCTGTGCAGGCATAAACAGACTTGGGGATGGCCAGGCCCAGGGTGGGAGGCATATCTTGGGAAGTGGATTTCAACAGGTGACTTGTTTGACCAGGCCCAGCCGCAGCCCCAGCCCCAGCCCCAGCCCCAAGCCCAGTCTCAGCCACCGTCATCCAACAAGCGTCCCAGCAATAGCACGCCGCCCCCCACGCAGCTCAGCAAAATCAAGTACTCAGGGGGGCCCCAGATTGTCAAGAAGGAGCGACGGCAAAGCTCCTCCCGCTTCAACCTCAGCAAGAATCGGGAGCTGCAGAAGCTTCCTGCCCTGAAAGGTACTTGGCAATTGGTCACAGGGGCTGTTTTACCAGTTCTAGTGGGCATCGGGAGTTGGTGGAATGGAAGTTTTGGGGTATTTTGCGGGGAAGGGAGTTCCAGAGAATGCGGGAAGGGGGTGCCAGGGAGCAGGATGGTGGCAGGGTGGGGTAAGGGAAAGCCCTTGAAGGCAAGCAGGGCATCGCAGTGAAGGACTACAGAGGAGAACCTGACTGCTGGGGCCCCCACAGATTCGCCAACCCAGGAGCGGGAGGAGCTGTTTATCCAGAAGCTACGCCAGTGCTGTGTCCTCTTTGACTTCGTGTCAGACCCACTCAGTGACCTCAAATTCAAGGAGGTGAAGCGGGCAGGACTCAACGAGATGGTGGAGTACATCACCCATAGCCGTGATGTTGTCACTGAGGCCATTTACCCTGAGGCTGTCACCATGGTGGGCACAGGGAAAGGACACAGGGGGGACTGGTGAGGGGCTCTGGAGAAGCCCAGGTGGAGCTCTAACTGGCCCTACCCCTCAGTTTTCAGTGAACCTCTTCCGGACGCTGCCACCTTCATCGAATCCCACAGGGGCTGAGTTTGACCCAGAGGAAGATGAGCCCACCCTGGAAGCTGCTTGGCCACATCTCCAGGTACCAGGGCAAGGGGGCAGATTGGCCGTGGCTGCAGGGAGTGGGGCACTTGGAGGCCTGCAAGTCCTTGGGAACATCCCCTCAGTGGCGTGCCTTTTCCCCTATAGCTCGTGTATGAGTTCTTCTTACGTTTCCTTGAGTCTCCTGATTTCCAGCCAAACATAGCCAAGAAGTACATCGACCAGAAGTTTGTACTTGCTGTGAGTCCCCGAGTTCCTGTCCTTGCCCTCTCTTTCCATTCCATGCCCCCTTCATCTGTGTCCCAGTGGCTCTTTCCCCTTAAGCTGAATATATTGGGTTTCATCCATGTCTGGTACGAGGAGGCTATAAAGGGTAAAAAACAAAACAAAACAAAACCCTACTCTGGCCTTAAGAAACTAACAACATAATGGTAGGAAACAAAAAAGCAACAGAGTACCTCTCTCAGGTCAATAGTGAGGCATCACTTTGGAAGTCTCAGTACAAATACAATAGAATCAGCAATATAATAGAATCACTGCTTTCTAAGACTTGCTGGCCCCCACTCCAGGGGACCTCTGCATTTCCCCTGGCGGGACCTATGTCACCCTGGCCACTGCCTTCCCTGGCTGCTGCCTCACTGGCTGCTTTCCCTCCCTTGTACCCCCAGCTCCTAGACCTATTTGACAGTGAGGATCCTCGAGAGCGGGACTTCCTCAAGACCATTTTGCATCGCATCTATGGCAAGTTTTTGGGGCTCCGGGCTTATATCCGTAGGCAGATCAACCACATCTTCTACAGGTGAGGCCAGGAGCCCAGGCTTAGGAGCAAAACCTTCTGCTACTGAGGTGGGGTGGGAGCAGGGAGGTGGGGGGACTGTACAGAATGCTGGAGGGACATCAGGGGTTGTCAAGAGAGCCATTTTTCTTCCCTCAGGTTCATCTACGAGACGGAGCATCACAACGGGATTGCTGAGCTCCTGGAGATCCTGGGCAGGTGAGAGGCCGGGTGGGGGCACAGATGCCTGAAAAAGGTTGGCAGGATTGGTGTACTGAACTTGGATCTGACCCTCTGGTCCTAACAAATGTCCCTTAATTCCTAGCATCATCAATGGCTTTGCCCTGCCCCTTAAAGAAGAGCACAAGATGTTCCTCATCCGTGTCCTACTTCCCCTTCACAAGGTCAAGTCCCTGAGTGTCTACCACCCTCAGGTGAGCTGCCTTCCTCCTTATAATGTCCAACTCAGGCAGCAGAGAAAAGAGCCGGCAGGAAAGTGTTCCAGCTGGGATAGGGGAAGCATAGGGAGCAGGTGGGATAATTCCTTCCCTCCATCTCCCCTTCCCTTCTGGGATCTTGTTTCTATCACTGACTTCTCTGAGAGCTTCTAGGACCTACACCTCACCTCCCTTCTACCTCACACCTTTGCAGCTGGCATACTGTGTGGTACAATTCCTGGAGAAGGAGAGCAGTCTGACTGAGCCGGTAATTCCCCTTCCGGGCCCCAAGGCCCACCTCTTACTGTCAGCATCACTTGCCAGTCTGTACCTACTGGGGGTGCCATAAGGGGGAACTCAGGAGGGCTGTGACCTGACCGGTAACATGGTTTCCTCTCTGAAGGGGAAGCAAAACCTATATACACCTAGGAAACAGATCCAAGGCAAAGAAACGGGTAGCTGGCTGAGATCACCCAAACTGTGCCCACCAGGGTGGGGGAGAGAGCAGGTAGGAAAACTTCCTGGTGACCTAGGCAGGTGCAAAGAATTTTCATCCCCATGCCCTCCTTGTCTCCCAGGTAATTGTGGGACTTCTCAAGTTTTGGCCCAAGACCCACAGCCCCAAGGAGGTGATGTTCTTGAATGAGCTGGAGGAGATTCTGGACGTCATTGAACCTTCTGAGTTCAGCAAAGTGATGGAACCCCTCTTCCGCCAGCTGGCCAAGTGTGTCTCTAGCCCCCATTTCCAGGTGAGACTCCAACCTAGCATATCCTAGCCCCTGCCAGAAACTGAGGTCTTGAGTGAAATGAGCAGCACCCACCGAGTCTGCCTCTCCCCACCAGGTGGCAGAGCGTGCTCTCTA
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GACATGGGAATGAATTTCTTTCTTTTACCTTTTTAAATTTGAAAATTTTTATCTTTAGAGACAGTGTTGTTTTGTTGTTCAGGCTGGAGTGCAGTTGGTGTGATCATAGCTCATGGGAGACTTGAACTCCTGGGCGCAAGGGATCCTCCAACCTTGAGTAGCTGGAACTCCAGTAAGCTTCCTGAGTAGCTGGAACTGCAGGCATGTGCCACCACACCTGGCTAATTAAAAAAAATTTTTTGTAGAGATGGGGTCTTGCTACGTTGTTCAGGCTGGTTTCAAACTTCTGGCTTCAAGTAATCCTCCTGCTTTGGCTTCCCAAAGTGTTGGGATTACAGGCTTTGGCCACTGTGCCTGGCCTTTCTTTTACCTTTTGTTTTGTTTTTTTTTTTTGAGACAAAGTCTCGCTCTTGTCCCCCAGGCTGGAGTGCAATGGCATGATCTCGGCTCACTGCAACCTCCGCCTCCTGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGATTACAGGCGCCTGCCACCACGCCTGGCTAATGTTTGTATTTTTAGTAGAGATGGGGTTTCACCATGTTGGCCTGGCTGGTCTTGAACTCTTGACCTCAGGTGATCTGCCCTCCTCGGCCTCCCAAAGTGCTGGGATTACAAGTGTGAGCCACTGCGCCCGGCCTCTTCTACCTTTTGATTGGAGACTGTCATACATTCAGTAAAGGATCTTAAGTGTACTGCTCAATAAATTTTAGGTATGTATCTGCCATGCACCACCTTGCAGGTCCAGTCAAGATACAGGATGTTTACATTACTCAGAAGGCTCCTCATGTCTCTTCTTATTCCTCATGTGTCTTCTTATTCATCATGTGTCTTCTTAGCAATACCCACCCCATTTCCCCTGGCAACGTAATCACTTTTTTGACTTCTGTCACCATCAATCTATCAATTAGCTTTACCTGTTCATGAACTGGAATGAACGTTTTAAAGGCTCTTGATGCACAAGCAGTGGGCATCTCTTTGGGTGATGTGACTTCTTGACTGCTCCCTGCCAGGGCTACAGCACAGTTATCTCTGTAACCCTGGCCTTAGCTCCTTCGGGGCAGGAGACAGCTGCTCACTGCCCAGGCCTGTGCAGGCATAAACAGACTTGGGGATGGCCAGGCCCAGGGTGGGAGGCATATCTTGGGAAGTGGATTTCAACAGGTGACTTGTTTGACCAGGCCCAGCCGCAGCCCCAGCCCCAGCCCCAGCCCCAAGCCCAGTCTCAGCCACCGTCATCCAACAAGCGTCCCAGCAATAGCACGCCGCCCCCCACGCAGCTCAGCAAAATCAAGTACTCAGGGGGGCCCCAGATTGTCAAGAAGGAGCGACGGCAAAGCTCCTCCCGCTTCAACCTCAGCAAGAATCGGGAGCTGCAGAAGCTTCCTGCCCTGAAAGGTACTTGGCAATTGGTCACAGGGGCTGTTTTACCAGTTCTAGTGGGCATCGGGAGTTGGTGGAATGGAAGTTTTGGGGTATTTTGCGGGGAAGGGAGTTCCAGAGAATGCGGGAAGGGGGTGCCAGGGAGCAGGATGGTGGCAGGGTGGGGTAAGGGAAAGCCCTTGAAGGCAAGCAGGGCATCGCAGTGAAGGACTACAGAGGAGAACCTGACTGCTGGGGCCCCCACAGATTCGCCAACCCAGGAGCGGGAGGAGCTGTTTATCCAGAAGCTACGCCAGTGCTGTGTCCTCTTTGACTTCGTGTCAGACCCACTCAGTGACCTCAAATTCAAGGAGGTGAAGCGGGCAGGACTCAACGAGATGGTGGAGTACATCACCCATAGCCGTGATGTTGTCACTGAGGCCATTTACCCTGAGGCTGTCACCATGGTGGGCACAGGGAAAGGACACAGGGGGGACTGGTGAGGGGCTCTGGAGAAGCCCAGGTGGAGCTCTAACTGGCCCTACCCCTCAGTTTTCAGTGAACCTCTTCCGGACGCTGCCACCTTCATCGAATCCCACAGGGGCTGAGTTTGACCCAGAGGAAGATGAGCCCACCCTGGAAGCTGCTTGTCCACATCTCCAGGTACCAGGGCAAGGGGGCAGATTGGCCGTGGCTGCAGGGAGTGGGGCACTTGGAGGCCTGCAAGTCCTTGGGAACATCCCCTCAGTGGCGTGCCTTTTCCCCTATAGCTCGTGTATGAGTTCTTCTTACGTTTCCTTGAGTCTCCTGATTTCCAGCCAAACATAGCCAAGAAGTACATCGACCAGAAGTTTGTACTTGCTGTGAGTCCCCGAGTTCCTGTCCTTGCCCTCTCTTTCCATTCCATGCCCCCTTCATCTGTGTCCCAGTGGCTCTTTCCCCTTAAGCTGAATATATTGGGTTTCATCCATGTCTGGTACGAGGAGGCTATAAAGGGTAAAAAACAAAACAAAACAAAACCCTACTCTGGCCTTAAGAAACTAACAACATAATGGTAGGAAACAAAAAAGCAACAGAGTACCTCTCTCAGGTCAATAGTGAGGCATCACTTTGGAAGTCTCAGTACAAATACAATAGAATCAGCAATATAATAGAATCACTGCTTTCTAAGACTTGCTGGCCCCCACTCCAGGGGACCTCTGCATTTCCCCTGGCGGGACCTATGTCACCCTGGCCACTGCCTTCCCTGGCTGCTGCCTCACTGGCTGCTTTCCCTCCCTTGTACCCCCAGCTCCTAGACCTATTTGACAGTGAGGATCCTCGAGAGCGGGACTTCCTCAAGACCATTTTGCATCGCATCTATGGCAAGTTTTTGGGGCTCCGGGCTTATATCCGTAGGCAGATCAACCACATCTTCTACAGGTGAGGCCAGGAGCCCAGGCTTAGGAGCAAAACCTTCTGCTACTGAGGTGGGGTGGGAGCAGGGAGGTGGGGGGACTGTACAGAATGCTGGAGGGACATCAGGGGTTGTCAAGAGAGCCATTTTTCTTCCCTCAGGTTCATCTACGAGACGGAGCATCACAACGGGATTGCTGAGCTCCTGGAGATCCTGGGCAGGTGAGAGGCCGGGTGGGGGCACAGATGCCTGAAAAAGGTTGGCAGGATTGGTGTACTGAACTTGGATCTGACCCTCTGGTCCTAACAAATGTCCCTTAATTCCTAGCATCATCAATGGCTTTGCCCTGCCCCTTAAAGAAGAGCACAAGATGTTCCTCATCCGTGTCCTACTTCCCCTTCACAAGGTCAAGTCCCTGAGTGTCTACCACCCTCAGGTGAGCTGCCTTCCTCCTTATAATGTCCAACTCAGGCAGCAGAGAAAAGAGCCGGCAGGAAAGTGTTCCAGCTGGGATAGGGGAAGCATAGGGAGCAGGTGGGATAATTCCTTCCCTCCATCTCCCCTTCCCTTCTGGGATCTTGTTTCTATCACTGACTTCTCTGAGAGCTTCTAGGACCTACACCTCACCTCCCTTCTACCTCACACCTTTGCAGCTGGCATACTGTGTGGTACAATTCCTGGAGAAGGAGAGCAGTCTGACTGAGCCGGTAATTCCCCTTCCGGGCCCCAAGGCCCACCTCTTACTGTCAGCATCACTTGCCAGTCTGTACCTACTGGGGGTGCCATAAGGGGGAACTCAGGAGGGCTGTGACCTGACCGGTAACATGGTTTCCTCTCTGAAGGGGAAGCAAAACCTATATACACCTAGGAAACAGATCCAAGGCAAAGAAACGGGTAGCTGGCTGAGATCACCCAAACTGTGCCCACCAGGGTGGGGGAGAGAGCAGGTAGGAAAACTTCCTGGTGACCTAGGCAGGTGCAAAGAATTTTCATCCCCATGCCCTCCTTGTCTCCCAGGTAATTGTGGGACTTCTCAAGTTTTGGCCCAAGACCCACAGCCCCAAGGAGGTGATGTTCTTGAATGAGCTGGAGGAGATTCTGGACGTCATTGAACCTTCTGAGTTCAGCAAAGTGATGGAACCCCTCTTCCGCCAGCTGGCCAAGTGTGTCTCTAGCCCCCATTTCCAGGTGAGACTCCAACCTAGCATATCCTAGCCCCTGCCAGAAACTGAGGTCTTGAGTGAAATGAGCAGCACCCACCGAGTCTGCCTCTCCCCACCAGGTGGCAGAGCGTGCTCTCTA
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Task1_train_10366
|
Given this variant in gene PPP2R5D (protein phosphatase 2 regulatory subunit B'delta) on Chromosome 6, classify it as benign or pathogenic. Include the disorder it may cause if applicable.
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Pathogenic; Seizure
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GCGCCCGGCCTCTTCTACCTTTTGATTGGAGACTGTCATACATTCAGTAAAGGATCTTAAGTGTACTGCTCAATAAATTTTAGGTATGTATCTGCCATGCACCACCTTGCAGGTCCAGTCAAGATACAGGATGTTTACATTACTCAGAAGGCTCCTCATGTCTCTTCTTATTCCTCATGTGTCTTCTTATTCATCATGTGTCTTCTTAGCAATACCCACCCCATTTCCCCTGGCAACGTAATCACTTTTTTGACTTCTGTCACCATCAATCTATCAATTAGCTTTACCTGTTCATGAACTGGAATGAACGTTTTAAAGGCTCTTGATGCACAAGCAGTGGGCATCTCTTTGGGTGATGTGACTTCTTGACTGCTCCCTGCCAGGGCTACAGCACAGTTATCTCTGTAACCCTGGCCTTAGCTCCTTCGGGGCAGGAGACAGCTGCTCACTGCCCAGGCCTGTGCAGGCATAAACAGACTTGGGGATGGCCAGGCCCAGGGTGGGAGGCATATCTTGGGAAGTGGATTTCAACAGGTGACTTGTTTGACCAGGCCCAGCCGCAGCCCCAGCCCCAGCCCCAGCCCCAAGCCCAGTCTCAGCCACCGTCATCCAACAAGCGTCCCAGCAATAGCACGCCGCCCCCCACGCAGCTCAGCAAAATCAAGTACTCAGGGGGGCCCCAGATTGTCAAGAAGGAGCGACGGCAAAGCTCCTCCCGCTTCAACCTCAGCAAGAATCGGGAGCTGCAGAAGCTTCCTGCCCTGAAAGGTACTTGGCAATTGGTCACAGGGGCTGTTTTACCAGTTCTAGTGGGCATCGGGAGTTGGTGGAATGGAAGTTTTGGGGTATTTTGCGGGGAAGGGAGTTCCAGAGAATGCGGGAAGGGGGTGCCAGGGAGCAGGATGGTGGCAGGGTGGGGTAAGGGAAAGCCCTTGAAGGCAAGCAGGGCATCGCAGTGAAGGACTACAGAGGAGAACCTGACTGCTGGGGCCCCCACAGATTCGCCAACCCAGGAGCGGGAGGAGCTGTTTATCCAGAAGCTACGCCAGTGCTGTGTCCTCTTTGACTTCGTGTCAGACCCACTCAGTGACCTCAAATTCAAGGAGGTGAAGCGGGCAGGACTCAACGAGATGGTGGAGTACATCACCCATAGCCGTGATGTTGTCACTGAGGCCATTTACCCTGAGGCTGTCACCATGGTGGGCACAGGGAAAGGACACAGGGGGGACTGGTGAGGGGCTCTGGAGAAGCCCAGGTGGAGCTCTAACTGGCCCTACCCCTCAGTTTTCAGTGAACCTCTTCCGGACGCTGCCACCTTCATCGAATCCCACAGGGGCTGAGTTTGACCCAGAGGAAGATGAGCCCACCCTGGAAGCTGCTTGGCCACATCTCCAGGTACCAGGGCAAGGGGGCAGATTGGCCGTGGCTGCAGGGAGTGGGGCACTTGGAGGCCTGCAAGTCCTTGGGAACATCCCCTCAGTGGCGTGCCTTTTCCCCTATAGCTCGTGTATGAGTTCTTCTTACGTTTCCTTGAGTCTCCTGATTTCCAGCCAAACATAGCCAAGAAGTACATCGACCAGAAGTTTGTACTTGCTGTGAGTCCCCGAGTTCCTGTCCTTGCCCTCTCTTTCCATTCCATGCCCCCTTCATCTGTGTCCCAGTGGCTCTTTCCCCTTAAGCTGAATATATTGGGTTTCATCCATGTCTGGTACGAGGAGGCTATAAAGGGTAAAAAACAAAACAAAACAAAACCCTACTCTGGCCTTAAGAAACTAACAACATAATGGTAGGAAACAAAAAAGCAACAGAGTACCTCTCTCAGGTCAATAGTGAGGCATCACTTTGGAAGTCTCAGTACAAATACAATAGAATCAGCAATATAATAGAATCACTGCTTTCTAAGACTTGCTGGCCCCCACTCCAGGGGACCTCTGCATTTCCCCTGGCGGGACCTATGTCACCCTGGCCACTGCCTTCCCTGGCTGCTGCCTCACTGGCTGCTTTCCCTCCCTTGTACCCCCAGCTCCTAGACCTATTTGACAGTGAGGATCCTCGAGAGCGGGACTTCCTCAAGACCATTTTGCATCGCATCTATGGCAAGTTTTTGGGGCTCCGGGCTTATATCCGTAGGCAGATCAACCACATCTTCTACAGGTGAGGCCAGGAGCCCAGGCTTAGGAGCAAAACCTTCTGCTACTGAGGTGGGGTGGGAGCAGGGAGGTGGGGGGACTGTACAGAATGCTGGAGGGACATCAGGGGTTGTCAAGAGAGCCATTTTTCTTCCCTCAGGTTCATCTACGAGACGGAGCATCACAACGGGATTGCTGAGCTCCTGGAGATCCTGGGCAGGTGAGAGGCCGGGTGGGGGCACAGATGCCTGAAAAAGGTTGGCAGGATTGGTGTACTGAACTTGGATCTGACCCTCTGGTCCTAACAAATGTCCCTTAATTCCTAGCATCATCAATGGCTTTGCCCTGCCCCTTAAAGAAGAGCACAAGATGTTCCTCATCCGTGTCCTACTTCCCCTTCACAAGGTCAAGTCCCTGAGTGTCTACCACCCTCAGGTGAGCTGCCTTCCTCCTTATAATGTCCAACTCAGGCAGCAGAGAAAAGAGCCGGCAGGAAAGTGTTCCAGCTGGGATAGGGGAAGCATAGGGAGCAGGTGGGATAATTCCTTCCCTCCATCTCCCCTTCCCTTCTGGGATCTTGTTTCTATCACTGACTTCTCTGAGAGCTTCTAGGACCTACACCTCACCTCCCTTCTACCTCACACCTTTGCAGCTGGCATACTGTGTGGTACAATTCCTGGAGAAGGAGAGCAGTCTGACTGAGCCGGTAATTCCCCTTCCGGGCCCCAAGGCCCACCTCTTACTGTCAGCATCACTTGCCAGTCTGTACCTACTGGGGGTGCCATAAGGGGGAACTCAGGAGGGCTGTGACCTGACCGGTAACATGGTTTCCTCTCTGAAGGGGAAGCAAAACCTATATACACCTAGGAAACAGATCCAAGGCAAAGAAACGGGTAGCTGGCTGAGATCACCCAAACTGTGCCCACCAGGGTGGGGGAGAGAGCAGGTAGGAAAACTTCCTGGTGACCTAGGCAGGTGCAAAGAATTTTCATCCCCATGCCCTCCTTGTCTCCCAGGTAATTGTGGGACTTCTCAAGTTTTGGCCCAAGACCCACAGCCCCAAGGAGGTGATGTTCTTGAATGAGCTGGAGGAGATTCTGGACGTCATTGAACCTTCTGAGTTCAGCAAAGTGATGGAACCCCTCTTCCGCCAGCTGGCCAAGTGTGTCTCTAGCCCCCATTTCCAGGTGAGACTCCAACCTAGCATATCCTAGCCCCTGCCAGAAACTGAGGTCTTGAGTGAAATGAGCAGCACCCACCGAGTCTGCCTCTCCCCACCAGGTGGCAGAGCGTGCTCTCTATTACTGGAACAATGAGTACATCATGAGCCTGATAAGTGACAATGCTGCCCGAGTCCTCCCCATCATGTTCCCTGCACTCTACAGGAACTCCAAGAGCCACTGGAACAAGTAAGGCGCTGGGGTGGGGCTGGGTGGTGGGGATCCAGTTTGGGAAACTTTGAGGGTATGGAAGAACTAAAGAGCCAGGGGTCTCACCTAGTCACCCAGCAAGTGGGGCTGATGTCCCCTGCATGTTGATAGGACCTTGAGGGGCTGACTGGAGCGAAAAGATGCCTGTGTGCAAGATCTCTGTGATACCAAACAGCAGGGCAGCGGCCTGTTACACCGCTCCTTGGGTTCAGCTATTCTACAGGTCCTATCACAGCTTTGGAGATGTAATTCTATGCAGTGAGAAGCTGATGTGACCTTCTTTGAGAGTATGTGTAAAGAATCCCAGGGTTTTAGGCCGGGCACGGTGTCTCACGCCTGTAATCCTAGCACTTTGGGAGGCTGGCAAGGCGGGTGGATCACGAGGTCAGGAGTTTGAGACCAGCCTGCCCAACATAGTGAAACCCCCATCTCTACTAAAAATACAAAAATTAGCTGGGTGTAGTGGTGGATGCCTGTAGTCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATCACTTGAACCTGGGAGGTGACGGTT
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GCGCCCGGCCTCTTCTACCTTTTGATTGGAGACTGTCATACATTCAGTAAAGGATCTTAAGTGTACTGCTCAATAAATTTTAGGTATGTATCTGCCATGCACCACCTTGCAGGTCCAGTCAAGATACAGGATGTTTACATTACTCAGAAGGCTCCTCATGTCTCTTCTTATTCCTCATGTGTCTTCTTATTCATCATGTGTCTTCTTAGCAATACCCACCCCATTTCCCCTGGCAACGTAATCACTTTTTTGACTTCTGTCACCATCAATCTATCAATTAGCTTTACCTGTTCATGAACTGGAATGAACGTTTTAAAGGCTCTTGATGCACAAGCAGTGGGCATCTCTTTGGGTGATGTGACTTCTTGACTGCTCCCTGCCAGGGCTACAGCACAGTTATCTCTGTAACCCTGGCCTTAGCTCCTTCGGGGCAGGAGACAGCTGCTCACTGCCCAGGCCTGTGCAGGCATAAACAGACTTGGGGATGGCCAGGCCCAGGGTGGGAGGCATATCTTGGGAAGTGGATTTCAACAGGTGACTTGTTTGACCAGGCCCAGCCGCAGCCCCAGCCCCAGCCCCAGCCCCAAGCCCAGTCTCAGCCACCGTCATCCAACAAGCGTCCCAGCAATAGCACGCCGCCCCCCACGCAGCTCAGCAAAATCAAGTACTCAGGGGGGCCCCAGATTGTCAAGAAGGAGCGACGGCAAAGCTCCTCCCGCTTCAACCTCAGCAAGAATCGGGAGCTGCAGAAGCTTCCTGCCCTGAAAGGTACTTGGCAATTGGTCACAGGGGCTGTTTTACCAGTTCTAGTGGGCATCGGGAGTTGGTGGAATGGAAGTTTTGGGGTATTTTGCGGGGAAGGGAGTTCCAGAGAATGCGGGAAGGGGGTGCCAGGGAGCAGGATGGTGGCAGGGTGGGGTAAGGGAAAGCCCTTGAAGGCAAGCAGGGCATCGCAGTGAAGGACTACAGAGGAGAACCTGACTGCTGGGGCCCCCACAGATTCGCCAACCCAGGAGCGGGAGGAGCTGTTTATCCAGAAGCTACGCCAGTGCTGTGTCCTCTTTGACTTCGTGTCAGACCCACTCAGTGACCTCAAATTCAAGGAGGTGAAGCGGGCAGGACTCAACGAGATGGTGGAGTACATCACCCATAGCCGTGATGTTGTCACTGAGGCCATTTACCCTGAGGCTGTCACCATGGTGGGCACAGGGAAAGGACACAGGGGGGACTGGTGAGGGGCTCTGGAGAAGCCCAGGTGGAGCTCTAACTGGCCCTACCCCTCAGTTTTCAGTGAACCTCTTCCGGACGCTGCCACCTTCATCGAATCCCACAGGGGCTGAGTTTGACCCAGAGGAAGATGAGCCCACCCTGGAAGCTGCTTGGCCACATCTCCAGGTACCAGGGCAAGGGGGCAGATTGGCCGTGGCTGCAGGGAGTGGGGCACTTGGAGGCCTGCAAGTCCTTGGGAACATCCCCTCAGTGGCGTGCCTTTTCCCCTATAGCTCGTGTATGAGTTCTTCTTACGTTTCCTTGAGTCTCCTGATTTCCAGCCAAACATAGCCAAGAAGTACATCGACCAGAAGTTTGTACTTGCTGTGAGTCCCCGAGTTCCTGTCCTTGCCCTCTCTTTCCATTCCATGCCCCCTTCATCTGTGTCCCAGTGGCTCTTTCCCCTTAAGCTGAATATATTGGGTTTCATCCATGTCTGGTACGAGGAGGCTATAAAGGGTAAAAAACAAAACAAAACAAAACCCTACTCTGGCCTTAAGAAACTAACAACATAATGGTAGGAAACAAAAAAGCAACAGAGTACCTCTCTCAGGTCAATAGTGAGGCATCACTTTGGAAGTCTCAGTACAAATACAATAGAATCAGCAATATAATAGAATCACTGCTTTCTAAGACTTGCTGGCCCCCACTCCAGGGGACCTCTGCATTTCCCCTGGCGGGACCTATGTCACCCTGGCCACTGCCTTCCCTGGCTGCTGCCTCACTGGCTGCTTTCCCTCCCTTGTACCCCCAGCTCCTAGACCTATTTGACAGTGAGGCTCCTCGAGAGCGGGACTTCCTCAAGACCATTTTGCATCGCATCTATGGCAAGTTTTTGGGGCTCCGGGCTTATATCCGTAGGCAGATCAACCACATCTTCTACAGGTGAGGCCAGGAGCCCAGGCTTAGGAGCAAAACCTTCTGCTACTGAGGTGGGGTGGGAGCAGGGAGGTGGGGGGACTGTACAGAATGCTGGAGGGACATCAGGGGTTGTCAAGAGAGCCATTTTTCTTCCCTCAGGTTCATCTACGAGACGGAGCATCACAACGGGATTGCTGAGCTCCTGGAGATCCTGGGCAGGTGAGAGGCCGGGTGGGGGCACAGATGCCTGAAAAAGGTTGGCAGGATTGGTGTACTGAACTTGGATCTGACCCTCTGGTCCTAACAAATGTCCCTTAATTCCTAGCATCATCAATGGCTTTGCCCTGCCCCTTAAAGAAGAGCACAAGATGTTCCTCATCCGTGTCCTACTTCCCCTTCACAAGGTCAAGTCCCTGAGTGTCTACCACCCTCAGGTGAGCTGCCTTCCTCCTTATAATGTCCAACTCAGGCAGCAGAGAAAAGAGCCGGCAGGAAAGTGTTCCAGCTGGGATAGGGGAAGCATAGGGAGCAGGTGGGATAATTCCTTCCCTCCATCTCCCCTTCCCTTCTGGGATCTTGTTTCTATCACTGACTTCTCTGAGAGCTTCTAGGACCTACACCTCACCTCCCTTCTACCTCACACCTTTGCAGCTGGCATACTGTGTGGTACAATTCCTGGAGAAGGAGAGCAGTCTGACTGAGCCGGTAATTCCCCTTCCGGGCCCCAAGGCCCACCTCTTACTGTCAGCATCACTTGCCAGTCTGTACCTACTGGGGGTGCCATAAGGGGGAACTCAGGAGGGCTGTGACCTGACCGGTAACATGGTTTCCTCTCTGAAGGGGAAGCAAAACCTATATACACCTAGGAAACAGATCCAAGGCAAAGAAACGGGTAGCTGGCTGAGATCACCCAAACTGTGCCCACCAGGGTGGGGGAGAGAGCAGGTAGGAAAACTTCCTGGTGACCTAGGCAGGTGCAAAGAATTTTCATCCCCATGCCCTCCTTGTCTCCCAGGTAATTGTGGGACTTCTCAAGTTTTGGCCCAAGACCCACAGCCCCAAGGAGGTGATGTTCTTGAATGAGCTGGAGGAGATTCTGGACGTCATTGAACCTTCTGAGTTCAGCAAAGTGATGGAACCCCTCTTCCGCCAGCTGGCCAAGTGTGTCTCTAGCCCCCATTTCCAGGTGAGACTCCAACCTAGCATATCCTAGCCCCTGCCAGAAACTGAGGTCTTGAGTGAAATGAGCAGCACCCACCGAGTCTGCCTCTCCCCACCAGGTGGCAGAGCGTGCTCTCTATTACTGGAACAATGAGTACATCATGAGCCTGATAAGTGACAATGCTGCCCGAGTCCTCCCCATCATGTTCCCTGCACTCTACAGGAACTCCAAGAGCCACTGGAACAAGTAAGGCGCTGGGGTGGGGCTGGGTGGTGGGGATCCAGTTTGGGAAACTTTGAGGGTATGGAAGAACTAAAGAGCCAGGGGTCTCACCTAGTCACCCAGCAAGTGGGGCTGATGTCCCCTGCATGTTGATAGGACCTTGAGGGGCTGACTGGAGCGAAAAGATGCCTGTGTGCAAGATCTCTGTGATACCAAACAGCAGGGCAGCGGCCTGTTACACCGCTCCTTGGGTTCAGCTATTCTACAGGTCCTATCACAGCTTTGGAGATGTAATTCTATGCAGTGAGAAGCTGATGTGACCTTCTTTGAGAGTATGTGTAAAGAATCCCAGGGTTTTAGGCCGGGCACGGTGTCTCACGCCTGTAATCCTAGCACTTTGGGAGGCTGGCAAGGCGGGTGGATCACGAGGTCAGGAGTTTGAGACCAGCCTGCCCAACATAGTGAAACCCCCATCTCTACTAAAAATACAAAAATTAGCTGGGTGTAGTGGTGGATGCCTGTAGTCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATCACTTGAACCTGGGAGGTGACGGTT
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Task1_train_10367
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This is a variant in PPP2R5D (protein phosphatase 2 regulatory subunit B'delta), located on Chromosome 6. Is this mutation a likely cause of disease or not?
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Pathogenic; Inborn genetic diseases
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GCGCCCGGCCTCTTCTACCTTTTGATTGGAGACTGTCATACATTCAGTAAAGGATCTTAAGTGTACTGCTCAATAAATTTTAGGTATGTATCTGCCATGCACCACCTTGCAGGTCCAGTCAAGATACAGGATGTTTACATTACTCAGAAGGCTCCTCATGTCTCTTCTTATTCCTCATGTGTCTTCTTATTCATCATGTGTCTTCTTAGCAATACCCACCCCATTTCCCCTGGCAACGTAATCACTTTTTTGACTTCTGTCACCATCAATCTATCAATTAGCTTTACCTGTTCATGAACTGGAATGAACGTTTTAAAGGCTCTTGATGCACAAGCAGTGGGCATCTCTTTGGGTGATGTGACTTCTTGACTGCTCCCTGCCAGGGCTACAGCACAGTTATCTCTGTAACCCTGGCCTTAGCTCCTTCGGGGCAGGAGACAGCTGCTCACTGCCCAGGCCTGTGCAGGCATAAACAGACTTGGGGATGGCCAGGCCCAGGGTGGGAGGCATATCTTGGGAAGTGGATTTCAACAGGTGACTTGTTTGACCAGGCCCAGCCGCAGCCCCAGCCCCAGCCCCAGCCCCAAGCCCAGTCTCAGCCACCGTCATCCAACAAGCGTCCCAGCAATAGCACGCCGCCCCCCACGCAGCTCAGCAAAATCAAGTACTCAGGGGGGCCCCAGATTGTCAAGAAGGAGCGACGGCAAAGCTCCTCCCGCTTCAACCTCAGCAAGAATCGGGAGCTGCAGAAGCTTCCTGCCCTGAAAGGTACTTGGCAATTGGTCACAGGGGCTGTTTTACCAGTTCTAGTGGGCATCGGGAGTTGGTGGAATGGAAGTTTTGGGGTATTTTGCGGGGAAGGGAGTTCCAGAGAATGCGGGAAGGGGGTGCCAGGGAGCAGGATGGTGGCAGGGTGGGGTAAGGGAAAGCCCTTGAAGGCAAGCAGGGCATCGCAGTGAAGGACTACAGAGGAGAACCTGACTGCTGGGGCCCCCACAGATTCGCCAACCCAGGAGCGGGAGGAGCTGTTTATCCAGAAGCTACGCCAGTGCTGTGTCCTCTTTGACTTCGTGTCAGACCCACTCAGTGACCTCAAATTCAAGGAGGTGAAGCGGGCAGGACTCAACGAGATGGTGGAGTACATCACCCATAGCCGTGATGTTGTCACTGAGGCCATTTACCCTGAGGCTGTCACCATGGTGGGCACAGGGAAAGGACACAGGGGGGACTGGTGAGGGGCTCTGGAGAAGCCCAGGTGGAGCTCTAACTGGCCCTACCCCTCAGTTTTCAGTGAACCTCTTCCGGACGCTGCCACCTTCATCGAATCCCACAGGGGCTGAGTTTGACCCAGAGGAAGATGAGCCCACCCTGGAAGCTGCTTGGCCACATCTCCAGGTACCAGGGCAAGGGGGCAGATTGGCCGTGGCTGCAGGGAGTGGGGCACTTGGAGGCCTGCAAGTCCTTGGGAACATCCCCTCAGTGGCGTGCCTTTTCCCCTATAGCTCGTGTATGAGTTCTTCTTACGTTTCCTTGAGTCTCCTGATTTCCAGCCAAACATAGCCAAGAAGTACATCGACCAGAAGTTTGTACTTGCTGTGAGTCCCCGAGTTCCTGTCCTTGCCCTCTCTTTCCATTCCATGCCCCCTTCATCTGTGTCCCAGTGGCTCTTTCCCCTTAAGCTGAATATATTGGGTTTCATCCATGTCTGGTACGAGGAGGCTATAAAGGGTAAAAAACAAAACAAAACAAAACCCTACTCTGGCCTTAAGAAACTAACAACATAATGGTAGGAAACAAAAAAGCAACAGAGTACCTCTCTCAGGTCAATAGTGAGGCATCACTTTGGAAGTCTCAGTACAAATACAATAGAATCAGCAATATAATAGAATCACTGCTTTCTAAGACTTGCTGGCCCCCACTCCAGGGGACCTCTGCATTTCCCCTGGCGGGACCTATGTCACCCTGGCCACTGCCTTCCCTGGCTGCTGCCTCACTGGCTGCTTTCCCTCCCTTGTACCCCCAGCTCCTAGACCTATTTGACAGTGAGGATCCTCGAGAGCGGGACTTCCTCAAGACCATTTTGCATCGCATCTATGGCAAGTTTTTGGGGCTCCGGGCTTATATCCGTAGGCAGATCAACCACATCTTCTACAGGTGAGGCCAGGAGCCCAGGCTTAGGAGCAAAACCTTCTGCTACTGAGGTGGGGTGGGAGCAGGGAGGTGGGGGGACTGTACAGAATGCTGGAGGGACATCAGGGGTTGTCAAGAGAGCCATTTTTCTTCCCTCAGGTTCATCTACGAGACGGAGCATCACAACGGGATTGCTGAGCTCCTGGAGATCCTGGGCAGGTGAGAGGCCGGGTGGGGGCACAGATGCCTGAAAAAGGTTGGCAGGATTGGTGTACTGAACTTGGATCTGACCCTCTGGTCCTAACAAATGTCCCTTAATTCCTAGCATCATCAATGGCTTTGCCCTGCCCCTTAAAGAAGAGCACAAGATGTTCCTCATCCGTGTCCTACTTCCCCTTCACAAGGTCAAGTCCCTGAGTGTCTACCACCCTCAGGTGAGCTGCCTTCCTCCTTATAATGTCCAACTCAGGCAGCAGAGAAAAGAGCCGGCAGGAAAGTGTTCCAGCTGGGATAGGGGAAGCATAGGGAGCAGGTGGGATAATTCCTTCCCTCCATCTCCCCTTCCCTTCTGGGATCTTGTTTCTATCACTGACTTCTCTGAGAGCTTCTAGGACCTACACCTCACCTCCCTTCTACCTCACACCTTTGCAGCTGGCATACTGTGTGGTACAATTCCTGGAGAAGGAGAGCAGTCTGACTGAGCCGGTAATTCCCCTTCCGGGCCCCAAGGCCCACCTCTTACTGTCAGCATCACTTGCCAGTCTGTACCTACTGGGGGTGCCATAAGGGGGAACTCAGGAGGGCTGTGACCTGACCGGTAACATGGTTTCCTCTCTGAAGGGGAAGCAAAACCTATATACACCTAGGAAACAGATCCAAGGCAAAGAAACGGGTAGCTGGCTGAGATCACCCAAACTGTGCCCACCAGGGTGGGGGAGAGAGCAGGTAGGAAAACTTCCTGGTGACCTAGGCAGGTGCAAAGAATTTTCATCCCCATGCCCTCCTTGTCTCCCAGGTAATTGTGGGACTTCTCAAGTTTTGGCCCAAGACCCACAGCCCCAAGGAGGTGATGTTCTTGAATGAGCTGGAGGAGATTCTGGACGTCATTGAACCTTCTGAGTTCAGCAAAGTGATGGAACCCCTCTTCCGCCAGCTGGCCAAGTGTGTCTCTAGCCCCCATTTCCAGGTGAGACTCCAACCTAGCATATCCTAGCCCCTGCCAGAAACTGAGGTCTTGAGTGAAATGAGCAGCACCCACCGAGTCTGCCTCTCCCCACCAGGTGGCAGAGCGTGCTCTCTATTACTGGAACAATGAGTACATCATGAGCCTGATAAGTGACAATGCTGCCCGAGTCCTCCCCATCATGTTCCCTGCACTCTACAGGAACTCCAAGAGCCACTGGAACAAGTAAGGCGCTGGGGTGGGGCTGGGTGGTGGGGATCCAGTTTGGGAAACTTTGAGGGTATGGAAGAACTAAAGAGCCAGGGGTCTCACCTAGTCACCCAGCAAGTGGGGCTGATGTCCCCTGCATGTTGATAGGACCTTGAGGGGCTGACTGGAGCGAAAAGATGCCTGTGTGCAAGATCTCTGTGATACCAAACAGCAGGGCAGCGGCCTGTTACACCGCTCCTTGGGTTCAGCTATTCTACAGGTCCTATCACAGCTTTGGAGATGTAATTCTATGCAGTGAGAAGCTGATGTGACCTTCTTTGAGAGTATGTGTAAAGAATCCCAGGGTTTTAGGCCGGGCACGGTGTCTCACGCCTGTAATCCTAGCACTTTGGGAGGCTGGCAAGGCGGGTGGATCACGAGGTCAGGAGTTTGAGACCAGCCTGCCCAACATAGTGAAACCCCCATCTCTACTAAAAATACAAAAATTAGCTGGGTGTAGTGGTGGATGCCTGTAGTCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATCACTTGAACCTGGGAGGTGACGGTT
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GCGCCCGGCCTCTTCTACCTTTTGATTGGAGACTGTCATACATTCAGTAAAGGATCTTAAGTGTACTGCTCAATAAATTTTAGGTATGTATCTGCCATGCACCACCTTGCAGGTCCAGTCAAGATACAGGATGTTTACATTACTCAGAAGGCTCCTCATGTCTCTTCTTATTCCTCATGTGTCTTCTTATTCATCATGTGTCTTCTTAGCAATACCCACCCCATTTCCCCTGGCAACGTAATCACTTTTTTGACTTCTGTCACCATCAATCTATCAATTAGCTTTACCTGTTCATGAACTGGAATGAACGTTTTAAAGGCTCTTGATGCACAAGCAGTGGGCATCTCTTTGGGTGATGTGACTTCTTGACTGCTCCCTGCCAGGGCTACAGCACAGTTATCTCTGTAACCCTGGCCTTAGCTCCTTCGGGGCAGGAGACAGCTGCTCACTGCCCAGGCCTGTGCAGGCATAAACAGACTTGGGGATGGCCAGGCCCAGGGTGGGAGGCATATCTTGGGAAGTGGATTTCAACAGGTGACTTGTTTGACCAGGCCCAGCCGCAGCCCCAGCCCCAGCCCCAGCCCCAAGCCCAGTCTCAGCCACCGTCATCCAACAAGCGTCCCAGCAATAGCACGCCGCCCCCCACGCAGCTCAGCAAAATCAAGTACTCAGGGGGGCCCCAGATTGTCAAGAAGGAGCGACGGCAAAGCTCCTCCCGCTTCAACCTCAGCAAGAATCGGGAGCTGCAGAAGCTTCCTGCCCTGAAAGGTACTTGGCAATTGGTCACAGGGGCTGTTTTACCAGTTCTAGTGGGCATCGGGAGTTGGTGGAATGGAAGTTTTGGGGTATTTTGCGGGGAAGGGAGTTCCAGAGAATGCGGGAAGGGGGTGCCAGGGAGCAGGATGGTGGCAGGGTGGGGTAAGGGAAAGCCCTTGAAGGCAAGCAGGGCATCGCAGTGAAGGACTACAGAGGAGAACCTGACTGCTGGGGCCCCCACAGATTCGCCAACCCAGGAGCGGGAGGAGCTGTTTATCCAGAAGCTACGCCAGTGCTGTGTCCTCTTTGACTTCGTGTCAGACCCACTCAGTGACCTCAAATTCAAGGAGGTGAAGCGGGCAGGACTCAACGAGATGGTGGAGTACATCACCCATAGCCGTGATGTTGTCACTGAGGCCATTTACCCTGAGGCTGTCACCATGGTGGGCACAGGGAAAGGACACAGGGGGGACTGGTGAGGGGCTCTGGAGAAGCCCAGGTGGAGCTCTAACTGGCCCTACCCCTCAGTTTTCAGTGAACCTCTTCCGGACGCTGCCACCTTCATCGAATCCCACAGGGGCTGAGTTTGACCCAGAGGAAGATGAGCCCACCCTGGAAGCTGCTTGGCCACATCTCCAGGTACCAGGGCAAGGGGGCAGATTGGCCGTGGCTGCAGGGAGTGGGGCACTTGGAGGCCTGCAAGTCCTTGGGAACATCCCCTCAGTGGCGTGCCTTTTCCCCTATAGCTCGTGTATGAGTTCTTCTTACGTTTCCTTGAGTCTCCTGATTTCCAGCCAAACATAGCCAAGAAGTACATCGACCAGAAGTTTGTACTTGCTGTGAGTCCCCGAGTTCCTGTCCTTGCCCTCTCTTTCCATTCCATGCCCCCTTCATCTGTGTCCCAGTGGCTCTTTCCCCTTAAGCTGAATATATTGGGTTTCATCCATGTCTGGTACGAGGAGGCTATAAAGGGTAAAAAACAAAACAAAACAAAACCCTACTCTGGCCTTAAGAAACTAACAACATAATGGTAGGAAACAAAAAAGCAACAGAGTACCTCTCTCAGGTCAATAGTGAGGCATCACTTTGGAAGTCTCAGTACAAATACAATAGAATCAGCAATATAATAGAATCACTGCTTTCTAAGACTTGCTGGCCCCCACTCCAGGGGACCTCTGCATTTCCCCTGGCGGGACCTATGTCACCCTGGCCACTGCCTTCCCTGGCTGCTGCCTCACTGGCTGCTTTCCCTCCCTTGTACCCCCAGCTCCTAGACCTATTTGACAGTGAGGCTCCTCGAGAGCGGGACTTCCTCAAGACCATTTTGCATCGCATCTATGGCAAGTTTTTGGGGCTCCGGGCTTATATCCGTAGGCAGATCAACCACATCTTCTACAGGTGAGGCCAGGAGCCCAGGCTTAGGAGCAAAACCTTCTGCTACTGAGGTGGGGTGGGAGCAGGGAGGTGGGGGGACTGTACAGAATGCTGGAGGGACATCAGGGGTTGTCAAGAGAGCCATTTTTCTTCCCTCAGGTTCATCTACGAGACGGAGCATCACAACGGGATTGCTGAGCTCCTGGAGATCCTGGGCAGGTGAGAGGCCGGGTGGGGGCACAGATGCCTGAAAAAGGTTGGCAGGATTGGTGTACTGAACTTGGATCTGACCCTCTGGTCCTAACAAATGTCCCTTAATTCCTAGCATCATCAATGGCTTTGCCCTGCCCCTTAAAGAAGAGCACAAGATGTTCCTCATCCGTGTCCTACTTCCCCTTCACAAGGTCAAGTCCCTGAGTGTCTACCACCCTCAGGTGAGCTGCCTTCCTCCTTATAATGTCCAACTCAGGCAGCAGAGAAAAGAGCCGGCAGGAAAGTGTTCCAGCTGGGATAGGGGAAGCATAGGGAGCAGGTGGGATAATTCCTTCCCTCCATCTCCCCTTCCCTTCTGGGATCTTGTTTCTATCACTGACTTCTCTGAGAGCTTCTAGGACCTACACCTCACCTCCCTTCTACCTCACACCTTTGCAGCTGGCATACTGTGTGGTACAATTCCTGGAGAAGGAGAGCAGTCTGACTGAGCCGGTAATTCCCCTTCCGGGCCCCAAGGCCCACCTCTTACTGTCAGCATCACTTGCCAGTCTGTACCTACTGGGGGTGCCATAAGGGGGAACTCAGGAGGGCTGTGACCTGACCGGTAACATGGTTTCCTCTCTGAAGGGGAAGCAAAACCTATATACACCTAGGAAACAGATCCAAGGCAAAGAAACGGGTAGCTGGCTGAGATCACCCAAACTGTGCCCACCAGGGTGGGGGAGAGAGCAGGTAGGAAAACTTCCTGGTGACCTAGGCAGGTGCAAAGAATTTTCATCCCCATGCCCTCCTTGTCTCCCAGGTAATTGTGGGACTTCTCAAGTTTTGGCCCAAGACCCACAGCCCCAAGGAGGTGATGTTCTTGAATGAGCTGGAGGAGATTCTGGACGTCATTGAACCTTCTGAGTTCAGCAAAGTGATGGAACCCCTCTTCCGCCAGCTGGCCAAGTGTGTCTCTAGCCCCCATTTCCAGGTGAGACTCCAACCTAGCATATCCTAGCCCCTGCCAGAAACTGAGGTCTTGAGTGAAATGAGCAGCACCCACCGAGTCTGCCTCTCCCCACCAGGTGGCAGAGCGTGCTCTCTATTACTGGAACAATGAGTACATCATGAGCCTGATAAGTGACAATGCTGCCCGAGTCCTCCCCATCATGTTCCCTGCACTCTACAGGAACTCCAAGAGCCACTGGAACAAGTAAGGCGCTGGGGTGGGGCTGGGTGGTGGGGATCCAGTTTGGGAAACTTTGAGGGTATGGAAGAACTAAAGAGCCAGGGGTCTCACCTAGTCACCCAGCAAGTGGGGCTGATGTCCCCTGCATGTTGATAGGACCTTGAGGGGCTGACTGGAGCGAAAAGATGCCTGTGTGCAAGATCTCTGTGATACCAAACAGCAGGGCAGCGGCCTGTTACACCGCTCCTTGGGTTCAGCTATTCTACAGGTCCTATCACAGCTTTGGAGATGTAATTCTATGCAGTGAGAAGCTGATGTGACCTTCTTTGAGAGTATGTGTAAAGAATCCCAGGGTTTTAGGCCGGGCACGGTGTCTCACGCCTGTAATCCTAGCACTTTGGGAGGCTGGCAAGGCGGGTGGATCACGAGGTCAGGAGTTTGAGACCAGCCTGCCCAACATAGTGAAACCCCCATCTCTACTAAAAATACAAAAATTAGCTGGGTGTAGTGGTGGATGCCTGTAGTCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATCACTTGAACCTGGGAGGTGACGGTT
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Task1_train_10368
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Given this context: Chromosome 6, gene PPP2R5D (protein phosphatase 2 regulatory subunit B'delta) — does this variant present pathogenic behavior, and if so, what disease does it relate to?
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Pathogenic; Hogue-Janssens syndrome 1
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GCGCCCGGCCTCTTCTACCTTTTGATTGGAGACTGTCATACATTCAGTAAAGGATCTTAAGTGTACTGCTCAATAAATTTTAGGTATGTATCTGCCATGCACCACCTTGCAGGTCCAGTCAAGATACAGGATGTTTACATTACTCAGAAGGCTCCTCATGTCTCTTCTTATTCCTCATGTGTCTTCTTATTCATCATGTGTCTTCTTAGCAATACCCACCCCATTTCCCCTGGCAACGTAATCACTTTTTTGACTTCTGTCACCATCAATCTATCAATTAGCTTTACCTGTTCATGAACTGGAATGAACGTTTTAAAGGCTCTTGATGCACAAGCAGTGGGCATCTCTTTGGGTGATGTGACTTCTTGACTGCTCCCTGCCAGGGCTACAGCACAGTTATCTCTGTAACCCTGGCCTTAGCTCCTTCGGGGCAGGAGACAGCTGCTCACTGCCCAGGCCTGTGCAGGCATAAACAGACTTGGGGATGGCCAGGCCCAGGGTGGGAGGCATATCTTGGGAAGTGGATTTCAACAGGTGACTTGTTTGACCAGGCCCAGCCGCAGCCCCAGCCCCAGCCCCAGCCCCAAGCCCAGTCTCAGCCACCGTCATCCAACAAGCGTCCCAGCAATAGCACGCCGCCCCCCACGCAGCTCAGCAAAATCAAGTACTCAGGGGGGCCCCAGATTGTCAAGAAGGAGCGACGGCAAAGCTCCTCCCGCTTCAACCTCAGCAAGAATCGGGAGCTGCAGAAGCTTCCTGCCCTGAAAGGTACTTGGCAATTGGTCACAGGGGCTGTTTTACCAGTTCTAGTGGGCATCGGGAGTTGGTGGAATGGAAGTTTTGGGGTATTTTGCGGGGAAGGGAGTTCCAGAGAATGCGGGAAGGGGGTGCCAGGGAGCAGGATGGTGGCAGGGTGGGGTAAGGGAAAGCCCTTGAAGGCAAGCAGGGCATCGCAGTGAAGGACTACAGAGGAGAACCTGACTGCTGGGGCCCCCACAGATTCGCCAACCCAGGAGCGGGAGGAGCTGTTTATCCAGAAGCTACGCCAGTGCTGTGTCCTCTTTGACTTCGTGTCAGACCCACTCAGTGACCTCAAATTCAAGGAGGTGAAGCGGGCAGGACTCAACGAGATGGTGGAGTACATCACCCATAGCCGTGATGTTGTCACTGAGGCCATTTACCCTGAGGCTGTCACCATGGTGGGCACAGGGAAAGGACACAGGGGGGACTGGTGAGGGGCTCTGGAGAAGCCCAGGTGGAGCTCTAACTGGCCCTACCCCTCAGTTTTCAGTGAACCTCTTCCGGACGCTGCCACCTTCATCGAATCCCACAGGGGCTGAGTTTGACCCAGAGGAAGATGAGCCCACCCTGGAAGCTGCTTGGCCACATCTCCAGGTACCAGGGCAAGGGGGCAGATTGGCCGTGGCTGCAGGGAGTGGGGCACTTGGAGGCCTGCAAGTCCTTGGGAACATCCCCTCAGTGGCGTGCCTTTTCCCCTATAGCTCGTGTATGAGTTCTTCTTACGTTTCCTTGAGTCTCCTGATTTCCAGCCAAACATAGCCAAGAAGTACATCGACCAGAAGTTTGTACTTGCTGTGAGTCCCCGAGTTCCTGTCCTTGCCCTCTCTTTCCATTCCATGCCCCCTTCATCTGTGTCCCAGTGGCTCTTTCCCCTTAAGCTGAATATATTGGGTTTCATCCATGTCTGGTACGAGGAGGCTATAAAGGGTAAAAAACAAAACAAAACAAAACCCTACTCTGGCCTTAAGAAACTAACAACATAATGGTAGGAAACAAAAAAGCAACAGAGTACCTCTCTCAGGTCAATAGTGAGGCATCACTTTGGAAGTCTCAGTACAAATACAATAGAATCAGCAATATAATAGAATCACTGCTTTCTAAGACTTGCTGGCCCCCACTCCAGGGGACCTCTGCATTTCCCCTGGCGGGACCTATGTCACCCTGGCCACTGCCTTCCCTGGCTGCTGCCTCACTGGCTGCTTTCCCTCCCTTGTACCCCCAGCTCCTAGACCTATTTGACAGTGAGGATCCTCGAGAGCGGGACTTCCTCAAGACCATTTTGCATCGCATCTATGGCAAGTTTTTGGGGCTCCGGGCTTATATCCGTAGGCAGATCAACCACATCTTCTACAGGTGAGGCCAGGAGCCCAGGCTTAGGAGCAAAACCTTCTGCTACTGAGGTGGGGTGGGAGCAGGGAGGTGGGGGGACTGTACAGAATGCTGGAGGGACATCAGGGGTTGTCAAGAGAGCCATTTTTCTTCCCTCAGGTTCATCTACGAGACGGAGCATCACAACGGGATTGCTGAGCTCCTGGAGATCCTGGGCAGGTGAGAGGCCGGGTGGGGGCACAGATGCCTGAAAAAGGTTGGCAGGATTGGTGTACTGAACTTGGATCTGACCCTCTGGTCCTAACAAATGTCCCTTAATTCCTAGCATCATCAATGGCTTTGCCCTGCCCCTTAAAGAAGAGCACAAGATGTTCCTCATCCGTGTCCTACTTCCCCTTCACAAGGTCAAGTCCCTGAGTGTCTACCACCCTCAGGTGAGCTGCCTTCCTCCTTATAATGTCCAACTCAGGCAGCAGAGAAAAGAGCCGGCAGGAAAGTGTTCCAGCTGGGATAGGGGAAGCATAGGGAGCAGGTGGGATAATTCCTTCCCTCCATCTCCCCTTCCCTTCTGGGATCTTGTTTCTATCACTGACTTCTCTGAGAGCTTCTAGGACCTACACCTCACCTCCCTTCTACCTCACACCTTTGCAGCTGGCATACTGTGTGGTACAATTCCTGGAGAAGGAGAGCAGTCTGACTGAGCCGGTAATTCCCCTTCCGGGCCCCAAGGCCCACCTCTTACTGTCAGCATCACTTGCCAGTCTGTACCTACTGGGGGTGCCATAAGGGGGAACTCAGGAGGGCTGTGACCTGACCGGTAACATGGTTTCCTCTCTGAAGGGGAAGCAAAACCTATATACACCTAGGAAACAGATCCAAGGCAAAGAAACGGGTAGCTGGCTGAGATCACCCAAACTGTGCCCACCAGGGTGGGGGAGAGAGCAGGTAGGAAAACTTCCTGGTGACCTAGGCAGGTGCAAAGAATTTTCATCCCCATGCCCTCCTTGTCTCCCAGGTAATTGTGGGACTTCTCAAGTTTTGGCCCAAGACCCACAGCCCCAAGGAGGTGATGTTCTTGAATGAGCTGGAGGAGATTCTGGACGTCATTGAACCTTCTGAGTTCAGCAAAGTGATGGAACCCCTCTTCCGCCAGCTGGCCAAGTGTGTCTCTAGCCCCCATTTCCAGGTGAGACTCCAACCTAGCATATCCTAGCCCCTGCCAGAAACTGAGGTCTTGAGTGAAATGAGCAGCACCCACCGAGTCTGCCTCTCCCCACCAGGTGGCAGAGCGTGCTCTCTATTACTGGAACAATGAGTACATCATGAGCCTGATAAGTGACAATGCTGCCCGAGTCCTCCCCATCATGTTCCCTGCACTCTACAGGAACTCCAAGAGCCACTGGAACAAGTAAGGCGCTGGGGTGGGGCTGGGTGGTGGGGATCCAGTTTGGGAAACTTTGAGGGTATGGAAGAACTAAAGAGCCAGGGGTCTCACCTAGTCACCCAGCAAGTGGGGCTGATGTCCCCTGCATGTTGATAGGACCTTGAGGGGCTGACTGGAGCGAAAAGATGCCTGTGTGCAAGATCTCTGTGATACCAAACAGCAGGGCAGCGGCCTGTTACACCGCTCCTTGGGTTCAGCTATTCTACAGGTCCTATCACAGCTTTGGAGATGTAATTCTATGCAGTGAGAAGCTGATGTGACCTTCTTTGAGAGTATGTGTAAAGAATCCCAGGGTTTTAGGCCGGGCACGGTGTCTCACGCCTGTAATCCTAGCACTTTGGGAGGCTGGCAAGGCGGGTGGATCACGAGGTCAGGAGTTTGAGACCAGCCTGCCCAACATAGTGAAACCCCCATCTCTACTAAAAATACAAAAATTAGCTGGGTGTAGTGGTGGATGCCTGTAGTCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATCACTTGAACCTGGGAGGTGACGGTT
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GCGCCCGGCCTCTTCTACCTTTTGATTGGAGACTGTCATACATTCAGTAAAGGATCTTAAGTGTACTGCTCAATAAATTTTAGGTATGTATCTGCCATGCACCACCTTGCAGGTCCAGTCAAGATACAGGATGTTTACATTACTCAGAAGGCTCCTCATGTCTCTTCTTATTCCTCATGTGTCTTCTTATTCATCATGTGTCTTCTTAGCAATACCCACCCCATTTCCCCTGGCAACGTAATCACTTTTTTGACTTCTGTCACCATCAATCTATCAATTAGCTTTACCTGTTCATGAACTGGAATGAACGTTTTAAAGGCTCTTGATGCACAAGCAGTGGGCATCTCTTTGGGTGATGTGACTTCTTGACTGCTCCCTGCCAGGGCTACAGCACAGTTATCTCTGTAACCCTGGCCTTAGCTCCTTCGGGGCAGGAGACAGCTGCTCACTGCCCAGGCCTGTGCAGGCATAAACAGACTTGGGGATGGCCAGGCCCAGGGTGGGAGGCATATCTTGGGAAGTGGATTTCAACAGGTGACTTGTTTGACCAGGCCCAGCCGCAGCCCCAGCCCCAGCCCCAGCCCCAAGCCCAGTCTCAGCCACCGTCATCCAACAAGCGTCCCAGCAATAGCACGCCGCCCCCCACGCAGCTCAGCAAAATCAAGTACTCAGGGGGGCCCCAGATTGTCAAGAAGGAGCGACGGCAAAGCTCCTCCCGCTTCAACCTCAGCAAGAATCGGGAGCTGCAGAAGCTTCCTGCCCTGAAAGGTACTTGGCAATTGGTCACAGGGGCTGTTTTACCAGTTCTAGTGGGCATCGGGAGTTGGTGGAATGGAAGTTTTGGGGTATTTTGCGGGGAAGGGAGTTCCAGAGAATGCGGGAAGGGGGTGCCAGGGAGCAGGATGGTGGCAGGGTGGGGTAAGGGAAAGCCCTTGAAGGCAAGCAGGGCATCGCAGTGAAGGACTACAGAGGAGAACCTGACTGCTGGGGCCCCCACAGATTCGCCAACCCAGGAGCGGGAGGAGCTGTTTATCCAGAAGCTACGCCAGTGCTGTGTCCTCTTTGACTTCGTGTCAGACCCACTCAGTGACCTCAAATTCAAGGAGGTGAAGCGGGCAGGACTCAACGAGATGGTGGAGTACATCACCCATAGCCGTGATGTTGTCACTGAGGCCATTTACCCTGAGGCTGTCACCATGGTGGGCACAGGGAAAGGACACAGGGGGGACTGGTGAGGGGCTCTGGAGAAGCCCAGGTGGAGCTCTAACTGGCCCTACCCCTCAGTTTTCAGTGAACCTCTTCCGGACGCTGCCACCTTCATCGAATCCCACAGGGGCTGAGTTTGACCCAGAGGAAGATGAGCCCACCCTGGAAGCTGCTTGGCCACATCTCCAGGTACCAGGGCAAGGGGGCAGATTGGCCGTGGCTGCAGGGAGTGGGGCACTTGGAGGCCTGCAAGTCCTTGGGAACATCCCCTCAGTGGCGTGCCTTTTCCCCTATAGCTCGTGTATGAGTTCTTCTTACGTTTCCTTGAGTCTCCTGATTTCCAGCCAAACATAGCCAAGAAGTACATCGACCAGAAGTTTGTACTTGCTGTGAGTCCCCGAGTTCCTGTCCTTGCCCTCTCTTTCCATTCCATGCCCCCTTCATCTGTGTCCCAGTGGCTCTTTCCCCTTAAGCTGAATATATTGGGTTTCATCCATGTCTGGTACGAGGAGGCTATAAAGGGTAAAAAACAAAACAAAACAAAACCCTACTCTGGCCTTAAGAAACTAACAACATAATGGTAGGAAACAAAAAAGCAACAGAGTACCTCTCTCAGGTCAATAGTGAGGCATCACTTTGGAAGTCTCAGTACAAATACAATAGAATCAGCAATATAATAGAATCACTGCTTTCTAAGACTTGCTGGCCCCCACTCCAGGGGACCTCTGCATTTCCCCTGGCGGGACCTATGTCACCCTGGCCACTGCCTTCCCTGGCTGCTGCCTCACTGGCTGCTTTCCCTCCCTTGTACCCCCAGCTCCTAGACCTATTTGACAGTGAGGCTCCTCGAGAGCGGGACTTCCTCAAGACCATTTTGCATCGCATCTATGGCAAGTTTTTGGGGCTCCGGGCTTATATCCGTAGGCAGATCAACCACATCTTCTACAGGTGAGGCCAGGAGCCCAGGCTTAGGAGCAAAACCTTCTGCTACTGAGGTGGGGTGGGAGCAGGGAGGTGGGGGGACTGTACAGAATGCTGGAGGGACATCAGGGGTTGTCAAGAGAGCCATTTTTCTTCCCTCAGGTTCATCTACGAGACGGAGCATCACAACGGGATTGCTGAGCTCCTGGAGATCCTGGGCAGGTGAGAGGCCGGGTGGGGGCACAGATGCCTGAAAAAGGTTGGCAGGATTGGTGTACTGAACTTGGATCTGACCCTCTGGTCCTAACAAATGTCCCTTAATTCCTAGCATCATCAATGGCTTTGCCCTGCCCCTTAAAGAAGAGCACAAGATGTTCCTCATCCGTGTCCTACTTCCCCTTCACAAGGTCAAGTCCCTGAGTGTCTACCACCCTCAGGTGAGCTGCCTTCCTCCTTATAATGTCCAACTCAGGCAGCAGAGAAAAGAGCCGGCAGGAAAGTGTTCCAGCTGGGATAGGGGAAGCATAGGGAGCAGGTGGGATAATTCCTTCCCTCCATCTCCCCTTCCCTTCTGGGATCTTGTTTCTATCACTGACTTCTCTGAGAGCTTCTAGGACCTACACCTCACCTCCCTTCTACCTCACACCTTTGCAGCTGGCATACTGTGTGGTACAATTCCTGGAGAAGGAGAGCAGTCTGACTGAGCCGGTAATTCCCCTTCCGGGCCCCAAGGCCCACCTCTTACTGTCAGCATCACTTGCCAGTCTGTACCTACTGGGGGTGCCATAAGGGGGAACTCAGGAGGGCTGTGACCTGACCGGTAACATGGTTTCCTCTCTGAAGGGGAAGCAAAACCTATATACACCTAGGAAACAGATCCAAGGCAAAGAAACGGGTAGCTGGCTGAGATCACCCAAACTGTGCCCACCAGGGTGGGGGAGAGAGCAGGTAGGAAAACTTCCTGGTGACCTAGGCAGGTGCAAAGAATTTTCATCCCCATGCCCTCCTTGTCTCCCAGGTAATTGTGGGACTTCTCAAGTTTTGGCCCAAGACCCACAGCCCCAAGGAGGTGATGTTCTTGAATGAGCTGGAGGAGATTCTGGACGTCATTGAACCTTCTGAGTTCAGCAAAGTGATGGAACCCCTCTTCCGCCAGCTGGCCAAGTGTGTCTCTAGCCCCCATTTCCAGGTGAGACTCCAACCTAGCATATCCTAGCCCCTGCCAGAAACTGAGGTCTTGAGTGAAATGAGCAGCACCCACCGAGTCTGCCTCTCCCCACCAGGTGGCAGAGCGTGCTCTCTATTACTGGAACAATGAGTACATCATGAGCCTGATAAGTGACAATGCTGCCCGAGTCCTCCCCATCATGTTCCCTGCACTCTACAGGAACTCCAAGAGCCACTGGAACAAGTAAGGCGCTGGGGTGGGGCTGGGTGGTGGGGATCCAGTTTGGGAAACTTTGAGGGTATGGAAGAACTAAAGAGCCAGGGGTCTCACCTAGTCACCCAGCAAGTGGGGCTGATGTCCCCTGCATGTTGATAGGACCTTGAGGGGCTGACTGGAGCGAAAAGATGCCTGTGTGCAAGATCTCTGTGATACCAAACAGCAGGGCAGCGGCCTGTTACACCGCTCCTTGGGTTCAGCTATTCTACAGGTCCTATCACAGCTTTGGAGATGTAATTCTATGCAGTGAGAAGCTGATGTGACCTTCTTTGAGAGTATGTGTAAAGAATCCCAGGGTTTTAGGCCGGGCACGGTGTCTCACGCCTGTAATCCTAGCACTTTGGGAGGCTGGCAAGGCGGGTGGATCACGAGGTCAGGAGTTTGAGACCAGCCTGCCCAACATAGTGAAACCCCCATCTCTACTAAAAATACAAAAATTAGCTGGGTGTAGTGGTGGATGCCTGTAGTCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATCACTTGAACCTGGGAGGTGACGGTT
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Task1_train_10369
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A mutation in PPP2R5D (protein phosphatase 2 regulatory subunit B'delta), located on Chromosome 6, is being studied. Determine whether it’s pathogenic or benign, and specify the linked disease.
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Pathogenic; not provided
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CGGCCTCTTCTACCTTTTGATTGGAGACTGTCATACATTCAGTAAAGGATCTTAAGTGTACTGCTCAATAAATTTTAGGTATGTATCTGCCATGCACCACCTTGCAGGTCCAGTCAAGATACAGGATGTTTACATTACTCAGAAGGCTCCTCATGTCTCTTCTTATTCCTCATGTGTCTTCTTATTCATCATGTGTCTTCTTAGCAATACCCACCCCATTTCCCCTGGCAACGTAATCACTTTTTTGACTTCTGTCACCATCAATCTATCAATTAGCTTTACCTGTTCATGAACTGGAATGAACGTTTTAAAGGCTCTTGATGCACAAGCAGTGGGCATCTCTTTGGGTGATGTGACTTCTTGACTGCTCCCTGCCAGGGCTACAGCACAGTTATCTCTGTAACCCTGGCCTTAGCTCCTTCGGGGCAGGAGACAGCTGCTCACTGCCCAGGCCTGTGCAGGCATAAACAGACTTGGGGATGGCCAGGCCCAGGGTGGGAGGCATATCTTGGGAAGTGGATTTCAACAGGTGACTTGTTTGACCAGGCCCAGCCGCAGCCCCAGCCCCAGCCCCAGCCCCAAGCCCAGTCTCAGCCACCGTCATCCAACAAGCGTCCCAGCAATAGCACGCCGCCCCCCACGCAGCTCAGCAAAATCAAGTACTCAGGGGGGCCCCAGATTGTCAAGAAGGAGCGACGGCAAAGCTCCTCCCGCTTCAACCTCAGCAAGAATCGGGAGCTGCAGAAGCTTCCTGCCCTGAAAGGTACTTGGCAATTGGTCACAGGGGCTGTTTTACCAGTTCTAGTGGGCATCGGGAGTTGGTGGAATGGAAGTTTTGGGGTATTTTGCGGGGAAGGGAGTTCCAGAGAATGCGGGAAGGGGGTGCCAGGGAGCAGGATGGTGGCAGGGTGGGGTAAGGGAAAGCCCTTGAAGGCAAGCAGGGCATCGCAGTGAAGGACTACAGAGGAGAACCTGACTGCTGGGGCCCCCACAGATTCGCCAACCCAGGAGCGGGAGGAGCTGTTTATCCAGAAGCTACGCCAGTGCTGTGTCCTCTTTGACTTCGTGTCAGACCCACTCAGTGACCTCAAATTCAAGGAGGTGAAGCGGGCAGGACTCAACGAGATGGTGGAGTACATCACCCATAGCCGTGATGTTGTCACTGAGGCCATTTACCCTGAGGCTGTCACCATGGTGGGCACAGGGAAAGGACACAGGGGGGACTGGTGAGGGGCTCTGGAGAAGCCCAGGTGGAGCTCTAACTGGCCCTACCCCTCAGTTTTCAGTGAACCTCTTCCGGACGCTGCCACCTTCATCGAATCCCACAGGGGCTGAGTTTGACCCAGAGGAAGATGAGCCCACCCTGGAAGCTGCTTGGCCACATCTCCAGGTACCAGGGCAAGGGGGCAGATTGGCCGTGGCTGCAGGGAGTGGGGCACTTGGAGGCCTGCAAGTCCTTGGGAACATCCCCTCAGTGGCGTGCCTTTTCCCCTATAGCTCGTGTATGAGTTCTTCTTACGTTTCCTTGAGTCTCCTGATTTCCAGCCAAACATAGCCAAGAAGTACATCGACCAGAAGTTTGTACTTGCTGTGAGTCCCCGAGTTCCTGTCCTTGCCCTCTCTTTCCATTCCATGCCCCCTTCATCTGTGTCCCAGTGGCTCTTTCCCCTTAAGCTGAATATATTGGGTTTCATCCATGTCTGGTACGAGGAGGCTATAAAGGGTAAAAAACAAAACAAAACAAAACCCTACTCTGGCCTTAAGAAACTAACAACATAATGGTAGGAAACAAAAAAGCAACAGAGTACCTCTCTCAGGTCAATAGTGAGGCATCACTTTGGAAGTCTCAGTACAAATACAATAGAATCAGCAATATAATAGAATCACTGCTTTCTAAGACTTGCTGGCCCCCACTCCAGGGGACCTCTGCATTTCCCCTGGCGGGACCTATGTCACCCTGGCCACTGCCTTCCCTGGCTGCTGCCTCACTGGCTGCTTTCCCTCCCTTGTACCCCCAGCTCCTAGACCTATTTGACAGTGAGGATCCTCGAGAGCGGGACTTCCTCAAGACCATTTTGCATCGCATCTATGGCAAGTTTTTGGGGCTCCGGGCTTATATCCGTAGGCAGATCAACCACATCTTCTACAGGTGAGGCCAGGAGCCCAGGCTTAGGAGCAAAACCTTCTGCTACTGAGGTGGGGTGGGAGCAGGGAGGTGGGGGGACTGTACAGAATGCTGGAGGGACATCAGGGGTTGTCAAGAGAGCCATTTTTCTTCCCTCAGGTTCATCTACGAGACGGAGCATCACAACGGGATTGCTGAGCTCCTGGAGATCCTGGGCAGGTGAGAGGCCGGGTGGGGGCACAGATGCCTGAAAAAGGTTGGCAGGATTGGTGTACTGAACTTGGATCTGACCCTCTGGTCCTAACAAATGTCCCTTAATTCCTAGCATCATCAATGGCTTTGCCCTGCCCCTTAAAGAAGAGCACAAGATGTTCCTCATCCGTGTCCTACTTCCCCTTCACAAGGTCAAGTCCCTGAGTGTCTACCACCCTCAGGTGAGCTGCCTTCCTCCTTATAATGTCCAACTCAGGCAGCAGAGAAAAGAGCCGGCAGGAAAGTGTTCCAGCTGGGATAGGGGAAGCATAGGGAGCAGGTGGGATAATTCCTTCCCTCCATCTCCCCTTCCCTTCTGGGATCTTGTTTCTATCACTGACTTCTCTGAGAGCTTCTAGGACCTACACCTCACCTCCCTTCTACCTCACACCTTTGCAGCTGGCATACTGTGTGGTACAATTCCTGGAGAAGGAGAGCAGTCTGACTGAGCCGGTAATTCCCCTTCCGGGCCCCAAGGCCCACCTCTTACTGTCAGCATCACTTGCCAGTCTGTACCTACTGGGGGTGCCATAAGGGGGAACTCAGGAGGGCTGTGACCTGACCGGTAACATGGTTTCCTCTCTGAAGGGGAAGCAAAACCTATATACACCTAGGAAACAGATCCAAGGCAAAGAAACGGGTAGCTGGCTGAGATCACCCAAACTGTGCCCACCAGGGTGGGGGAGAGAGCAGGTAGGAAAACTTCCTGGTGACCTAGGCAGGTGCAAAGAATTTTCATCCCCATGCCCTCCTTGTCTCCCAGGTAATTGTGGGACTTCTCAAGTTTTGGCCCAAGACCCACAGCCCCAAGGAGGTGATGTTCTTGAATGAGCTGGAGGAGATTCTGGACGTCATTGAACCTTCTGAGTTCAGCAAAGTGATGGAACCCCTCTTCCGCCAGCTGGCCAAGTGTGTCTCTAGCCCCCATTTCCAGGTGAGACTCCAACCTAGCATATCCTAGCCCCTGCCAGAAACTGAGGTCTTGAGTGAAATGAGCAGCACCCACCGAGTCTGCCTCTCCCCACCAGGTGGCAGAGCGTGCTCTCTATTACTGGAACAATGAGTACATCATGAGCCTGATAAGTGACAATGCTGCCCGAGTCCTCCCCATCATGTTCCCTGCACTCTACAGGAACTCCAAGAGCCACTGGAACAAGTAAGGCGCTGGGGTGGGGCTGGGTGGTGGGGATCCAGTTTGGGAAACTTTGAGGGTATGGAAGAACTAAAGAGCCAGGGGTCTCACCTAGTCACCCAGCAAGTGGGGCTGATGTCCCCTGCATGTTGATAGGACCTTGAGGGGCTGACTGGAGCGAAAAGATGCCTGTGTGCAAGATCTCTGTGATACCAAACAGCAGGGCAGCGGCCTGTTACACCGCTCCTTGGGTTCAGCTATTCTACAGGTCCTATCACAGCTTTGGAGATGTAATTCTATGCAGTGAGAAGCTGATGTGACCTTCTTTGAGAGTATGTGTAAAGAATCCCAGGGTTTTAGGCCGGGCACGGTGTCTCACGCCTGTAATCCTAGCACTTTGGGAGGCTGGCAAGGCGGGTGGATCACGAGGTCAGGAGTTTGAGACCAGCCTGCCCAACATAGTGAAACCCCCATCTCTACTAAAAATACAAAAATTAGCTGGGTGTAGTGGTGGATGCCTGTAGTCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATCACTTGAACCTGGGAGGTGACGGTTGCAGT
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CGGCCTCTTCTACCTTTTGATTGGAGACTGTCATACATTCAGTAAAGGATCTTAAGTGTACTGCTCAATAAATTTTAGGTATGTATCTGCCATGCACCACCTTGCAGGTCCAGTCAAGATACAGGATGTTTACATTACTCAGAAGGCTCCTCATGTCTCTTCTTATTCCTCATGTGTCTTCTTATTCATCATGTGTCTTCTTAGCAATACCCACCCCATTTCCCCTGGCAACGTAATCACTTTTTTGACTTCTGTCACCATCAATCTATCAATTAGCTTTACCTGTTCATGAACTGGAATGAACGTTTTAAAGGCTCTTGATGCACAAGCAGTGGGCATCTCTTTGGGTGATGTGACTTCTTGACTGCTCCCTGCCAGGGCTACAGCACAGTTATCTCTGTAACCCTGGCCTTAGCTCCTTCGGGGCAGGAGACAGCTGCTCACTGCCCAGGCCTGTGCAGGCATAAACAGACTTGGGGATGGCCAGGCCCAGGGTGGGAGGCATATCTTGGGAAGTGGATTTCAACAGGTGACTTGTTTGACCAGGCCCAGCCGCAGCCCCAGCCCCAGCCCCAGCCCCAAGCCCAGTCTCAGCCACCGTCATCCAACAAGCGTCCCAGCAATAGCACGCCGCCCCCCACGCAGCTCAGCAAAATCAAGTACTCAGGGGGGCCCCAGATTGTCAAGAAGGAGCGACGGCAAAGCTCCTCCCGCTTCAACCTCAGCAAGAATCGGGAGCTGCAGAAGCTTCCTGCCCTGAAAGGTACTTGGCAATTGGTCACAGGGGCTGTTTTACCAGTTCTAGTGGGCATCGGGAGTTGGTGGAATGGAAGTTTTGGGGTATTTTGCGGGGAAGGGAGTTCCAGAGAATGCGGGAAGGGGGTGCCAGGGAGCAGGATGGTGGCAGGGTGGGGTAAGGGAAAGCCCTTGAAGGCAAGCAGGGCATCGCAGTGAAGGACTACAGAGGAGAACCTGACTGCTGGGGCCCCCACAGATTCGCCAACCCAGGAGCGGGAGGAGCTGTTTATCCAGAAGCTACGCCAGTGCTGTGTCCTCTTTGACTTCGTGTCAGACCCACTCAGTGACCTCAAATTCAAGGAGGTGAAGCGGGCAGGACTCAACGAGATGGTGGAGTACATCACCCATAGCCGTGATGTTGTCACTGAGGCCATTTACCCTGAGGCTGTCACCATGGTGGGCACAGGGAAAGGACACAGGGGGGACTGGTGAGGGGCTCTGGAGAAGCCCAGGTGGAGCTCTAACTGGCCCTACCCCTCAGTTTTCAGTGAACCTCTTCCGGACGCTGCCACCTTCATCGAATCCCACAGGGGCTGAGTTTGACCCAGAGGAAGATGAGCCCACCCTGGAAGCTGCTTGGCCACATCTCCAGGTACCAGGGCAAGGGGGCAGATTGGCCGTGGCTGCAGGGAGTGGGGCACTTGGAGGCCTGCAAGTCCTTGGGAACATCCCCTCAGTGGCGTGCCTTTTCCCCTATAGCTCGTGTATGAGTTCTTCTTACGTTTCCTTGAGTCTCCTGATTTCCAGCCAAACATAGCCAAGAAGTACATCGACCAGAAGTTTGTACTTGCTGTGAGTCCCCGAGTTCCTGTCCTTGCCCTCTCTTTCCATTCCATGCCCCCTTCATCTGTGTCCCAGTGGCTCTTTCCCCTTAAGCTGAATATATTGGGTTTCATCCATGTCTGGTACGAGGAGGCTATAAAGGGTAAAAAACAAAACAAAACAAAACCCTACTCTGGCCTTAAGAAACTAACAACATAATGGTAGGAAACAAAAAAGCAACAGAGTACCTCTCTCAGGTCAATAGTGAGGCATCACTTTGGAAGTCTCAGTACAAATACAATAGAATCAGCAATATAATAGAATCACTGCTTTCTAAGACTTGCTGGCCCCCACTCCAGGGGACCTCTGCATTTCCCCTGGCGGGACCTATGTCACCCTGGCCACTGCCTTCCCTGGCTGCTGCCTCACTGGCTGCTTTCCCTCCCTTGTACCCCCAGCTCCTAGACCTATTTGACAGTGAGGATCCTGGAGAGCGGGACTTCCTCAAGACCATTTTGCATCGCATCTATGGCAAGTTTTTGGGGCTCCGGGCTTATATCCGTAGGCAGATCAACCACATCTTCTACAGGTGAGGCCAGGAGCCCAGGCTTAGGAGCAAAACCTTCTGCTACTGAGGTGGGGTGGGAGCAGGGAGGTGGGGGGACTGTACAGAATGCTGGAGGGACATCAGGGGTTGTCAAGAGAGCCATTTTTCTTCCCTCAGGTTCATCTACGAGACGGAGCATCACAACGGGATTGCTGAGCTCCTGGAGATCCTGGGCAGGTGAGAGGCCGGGTGGGGGCACAGATGCCTGAAAAAGGTTGGCAGGATTGGTGTACTGAACTTGGATCTGACCCTCTGGTCCTAACAAATGTCCCTTAATTCCTAGCATCATCAATGGCTTTGCCCTGCCCCTTAAAGAAGAGCACAAGATGTTCCTCATCCGTGTCCTACTTCCCCTTCACAAGGTCAAGTCCCTGAGTGTCTACCACCCTCAGGTGAGCTGCCTTCCTCCTTATAATGTCCAACTCAGGCAGCAGAGAAAAGAGCCGGCAGGAAAGTGTTCCAGCTGGGATAGGGGAAGCATAGGGAGCAGGTGGGATAATTCCTTCCCTCCATCTCCCCTTCCCTTCTGGGATCTTGTTTCTATCACTGACTTCTCTGAGAGCTTCTAGGACCTACACCTCACCTCCCTTCTACCTCACACCTTTGCAGCTGGCATACTGTGTGGTACAATTCCTGGAGAAGGAGAGCAGTCTGACTGAGCCGGTAATTCCCCTTCCGGGCCCCAAGGCCCACCTCTTACTGTCAGCATCACTTGCCAGTCTGTACCTACTGGGGGTGCCATAAGGGGGAACTCAGGAGGGCTGTGACCTGACCGGTAACATGGTTTCCTCTCTGAAGGGGAAGCAAAACCTATATACACCTAGGAAACAGATCCAAGGCAAAGAAACGGGTAGCTGGCTGAGATCACCCAAACTGTGCCCACCAGGGTGGGGGAGAGAGCAGGTAGGAAAACTTCCTGGTGACCTAGGCAGGTGCAAAGAATTTTCATCCCCATGCCCTCCTTGTCTCCCAGGTAATTGTGGGACTTCTCAAGTTTTGGCCCAAGACCCACAGCCCCAAGGAGGTGATGTTCTTGAATGAGCTGGAGGAGATTCTGGACGTCATTGAACCTTCTGAGTTCAGCAAAGTGATGGAACCCCTCTTCCGCCAGCTGGCCAAGTGTGTCTCTAGCCCCCATTTCCAGGTGAGACTCCAACCTAGCATATCCTAGCCCCTGCCAGAAACTGAGGTCTTGAGTGAAATGAGCAGCACCCACCGAGTCTGCCTCTCCCCACCAGGTGGCAGAGCGTGCTCTCTATTACTGGAACAATGAGTACATCATGAGCCTGATAAGTGACAATGCTGCCCGAGTCCTCCCCATCATGTTCCCTGCACTCTACAGGAACTCCAAGAGCCACTGGAACAAGTAAGGCGCTGGGGTGGGGCTGGGTGGTGGGGATCCAGTTTGGGAAACTTTGAGGGTATGGAAGAACTAAAGAGCCAGGGGTCTCACCTAGTCACCCAGCAAGTGGGGCTGATGTCCCCTGCATGTTGATAGGACCTTGAGGGGCTGACTGGAGCGAAAAGATGCCTGTGTGCAAGATCTCTGTGATACCAAACAGCAGGGCAGCGGCCTGTTACACCGCTCCTTGGGTTCAGCTATTCTACAGGTCCTATCACAGCTTTGGAGATGTAATTCTATGCAGTGAGAAGCTGATGTGACCTTCTTTGAGAGTATGTGTAAAGAATCCCAGGGTTTTAGGCCGGGCACGGTGTCTCACGCCTGTAATCCTAGCACTTTGGGAGGCTGGCAAGGCGGGTGGATCACGAGGTCAGGAGTTTGAGACCAGCCTGCCCAACATAGTGAAACCCCCATCTCTACTAAAAATACAAAAATTAGCTGGGTGTAGTGGTGGATGCCTGTAGTCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATCACTTGAACCTGGGAGGTGACGGTTGCAGT
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Task1_train_10370
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This variant affects the gene PPP2R5D (protein phosphatase 2 regulatory subunit B'delta) found on Chromosome 6. What is the clinical effect of this variant — benign or pathogenic? State the disease if applicable.
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Pathogenic; Neurodevelopmental abnormality
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GGCCTCTTCTACCTTTTGATTGGAGACTGTCATACATTCAGTAAAGGATCTTAAGTGTACTGCTCAATAAATTTTAGGTATGTATCTGCCATGCACCACCTTGCAGGTCCAGTCAAGATACAGGATGTTTACATTACTCAGAAGGCTCCTCATGTCTCTTCTTATTCCTCATGTGTCTTCTTATTCATCATGTGTCTTCTTAGCAATACCCACCCCATTTCCCCTGGCAACGTAATCACTTTTTTGACTTCTGTCACCATCAATCTATCAATTAGCTTTACCTGTTCATGAACTGGAATGAACGTTTTAAAGGCTCTTGATGCACAAGCAGTGGGCATCTCTTTGGGTGATGTGACTTCTTGACTGCTCCCTGCCAGGGCTACAGCACAGTTATCTCTGTAACCCTGGCCTTAGCTCCTTCGGGGCAGGAGACAGCTGCTCACTGCCCAGGCCTGTGCAGGCATAAACAGACTTGGGGATGGCCAGGCCCAGGGTGGGAGGCATATCTTGGGAAGTGGATTTCAACAGGTGACTTGTTTGACCAGGCCCAGCCGCAGCCCCAGCCCCAGCCCCAGCCCCAAGCCCAGTCTCAGCCACCGTCATCCAACAAGCGTCCCAGCAATAGCACGCCGCCCCCCACGCAGCTCAGCAAAATCAAGTACTCAGGGGGGCCCCAGATTGTCAAGAAGGAGCGACGGCAAAGCTCCTCCCGCTTCAACCTCAGCAAGAATCGGGAGCTGCAGAAGCTTCCTGCCCTGAAAGGTACTTGGCAATTGGTCACAGGGGCTGTTTTACCAGTTCTAGTGGGCATCGGGAGTTGGTGGAATGGAAGTTTTGGGGTATTTTGCGGGGAAGGGAGTTCCAGAGAATGCGGGAAGGGGGTGCCAGGGAGCAGGATGGTGGCAGGGTGGGGTAAGGGAAAGCCCTTGAAGGCAAGCAGGGCATCGCAGTGAAGGACTACAGAGGAGAACCTGACTGCTGGGGCCCCCACAGATTCGCCAACCCAGGAGCGGGAGGAGCTGTTTATCCAGAAGCTACGCCAGTGCTGTGTCCTCTTTGACTTCGTGTCAGACCCACTCAGTGACCTCAAATTCAAGGAGGTGAAGCGGGCAGGACTCAACGAGATGGTGGAGTACATCACCCATAGCCGTGATGTTGTCACTGAGGCCATTTACCCTGAGGCTGTCACCATGGTGGGCACAGGGAAAGGACACAGGGGGGACTGGTGAGGGGCTCTGGAGAAGCCCAGGTGGAGCTCTAACTGGCCCTACCCCTCAGTTTTCAGTGAACCTCTTCCGGACGCTGCCACCTTCATCGAATCCCACAGGGGCTGAGTTTGACCCAGAGGAAGATGAGCCCACCCTGGAAGCTGCTTGGCCACATCTCCAGGTACCAGGGCAAGGGGGCAGATTGGCCGTGGCTGCAGGGAGTGGGGCACTTGGAGGCCTGCAAGTCCTTGGGAACATCCCCTCAGTGGCGTGCCTTTTCCCCTATAGCTCGTGTATGAGTTCTTCTTACGTTTCCTTGAGTCTCCTGATTTCCAGCCAAACATAGCCAAGAAGTACATCGACCAGAAGTTTGTACTTGCTGTGAGTCCCCGAGTTCCTGTCCTTGCCCTCTCTTTCCATTCCATGCCCCCTTCATCTGTGTCCCAGTGGCTCTTTCCCCTTAAGCTGAATATATTGGGTTTCATCCATGTCTGGTACGAGGAGGCTATAAAGGGTAAAAAACAAAACAAAACAAAACCCTACTCTGGCCTTAAGAAACTAACAACATAATGGTAGGAAACAAAAAAGCAACAGAGTACCTCTCTCAGGTCAATAGTGAGGCATCACTTTGGAAGTCTCAGTACAAATACAATAGAATCAGCAATATAATAGAATCACTGCTTTCTAAGACTTGCTGGCCCCCACTCCAGGGGACCTCTGCATTTCCCCTGGCGGGACCTATGTCACCCTGGCCACTGCCTTCCCTGGCTGCTGCCTCACTGGCTGCTTTCCCTCCCTTGTACCCCCAGCTCCTAGACCTATTTGACAGTGAGGATCCTCGAGAGCGGGACTTCCTCAAGACCATTTTGCATCGCATCTATGGCAAGTTTTTGGGGCTCCGGGCTTATATCCGTAGGCAGATCAACCACATCTTCTACAGGTGAGGCCAGGAGCCCAGGCTTAGGAGCAAAACCTTCTGCTACTGAGGTGGGGTGGGAGCAGGGAGGTGGGGGGACTGTACAGAATGCTGGAGGGACATCAGGGGTTGTCAAGAGAGCCATTTTTCTTCCCTCAGGTTCATCTACGAGACGGAGCATCACAACGGGATTGCTGAGCTCCTGGAGATCCTGGGCAGGTGAGAGGCCGGGTGGGGGCACAGATGCCTGAAAAAGGTTGGCAGGATTGGTGTACTGAACTTGGATCTGACCCTCTGGTCCTAACAAATGTCCCTTAATTCCTAGCATCATCAATGGCTTTGCCCTGCCCCTTAAAGAAGAGCACAAGATGTTCCTCATCCGTGTCCTACTTCCCCTTCACAAGGTCAAGTCCCTGAGTGTCTACCACCCTCAGGTGAGCTGCCTTCCTCCTTATAATGTCCAACTCAGGCAGCAGAGAAAAGAGCCGGCAGGAAAGTGTTCCAGCTGGGATAGGGGAAGCATAGGGAGCAGGTGGGATAATTCCTTCCCTCCATCTCCCCTTCCCTTCTGGGATCTTGTTTCTATCACTGACTTCTCTGAGAGCTTCTAGGACCTACACCTCACCTCCCTTCTACCTCACACCTTTGCAGCTGGCATACTGTGTGGTACAATTCCTGGAGAAGGAGAGCAGTCTGACTGAGCCGGTAATTCCCCTTCCGGGCCCCAAGGCCCACCTCTTACTGTCAGCATCACTTGCCAGTCTGTACCTACTGGGGGTGCCATAAGGGGGAACTCAGGAGGGCTGTGACCTGACCGGTAACATGGTTTCCTCTCTGAAGGGGAAGCAAAACCTATATACACCTAGGAAACAGATCCAAGGCAAAGAAACGGGTAGCTGGCTGAGATCACCCAAACTGTGCCCACCAGGGTGGGGGAGAGAGCAGGTAGGAAAACTTCCTGGTGACCTAGGCAGGTGCAAAGAATTTTCATCCCCATGCCCTCCTTGTCTCCCAGGTAATTGTGGGACTTCTCAAGTTTTGGCCCAAGACCCACAGCCCCAAGGAGGTGATGTTCTTGAATGAGCTGGAGGAGATTCTGGACGTCATTGAACCTTCTGAGTTCAGCAAAGTGATGGAACCCCTCTTCCGCCAGCTGGCCAAGTGTGTCTCTAGCCCCCATTTCCAGGTGAGACTCCAACCTAGCATATCCTAGCCCCTGCCAGAAACTGAGGTCTTGAGTGAAATGAGCAGCACCCACCGAGTCTGCCTCTCCCCACCAGGTGGCAGAGCGTGCTCTCTATTACTGGAACAATGAGTACATCATGAGCCTGATAAGTGACAATGCTGCCCGAGTCCTCCCCATCATGTTCCCTGCACTCTACAGGAACTCCAAGAGCCACTGGAACAAGTAAGGCGCTGGGGTGGGGCTGGGTGGTGGGGATCCAGTTTGGGAAACTTTGAGGGTATGGAAGAACTAAAGAGCCAGGGGTCTCACCTAGTCACCCAGCAAGTGGGGCTGATGTCCCCTGCATGTTGATAGGACCTTGAGGGGCTGACTGGAGCGAAAAGATGCCTGTGTGCAAGATCTCTGTGATACCAAACAGCAGGGCAGCGGCCTGTTACACCGCTCCTTGGGTTCAGCTATTCTACAGGTCCTATCACAGCTTTGGAGATGTAATTCTATGCAGTGAGAAGCTGATGTGACCTTCTTTGAGAGTATGTGTAAAGAATCCCAGGGTTTTAGGCCGGGCACGGTGTCTCACGCCTGTAATCCTAGCACTTTGGGAGGCTGGCAAGGCGGGTGGATCACGAGGTCAGGAGTTTGAGACCAGCCTGCCCAACATAGTGAAACCCCCATCTCTACTAAAAATACAAAAATTAGCTGGGTGTAGTGGTGGATGCCTGTAGTCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATCACTTGAACCTGGGAGGTGACGGTTGCAGTG
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GGCCTCTTCTACCTTTTGATTGGAGACTGTCATACATTCAGTAAAGGATCTTAAGTGTACTGCTCAATAAATTTTAGGTATGTATCTGCCATGCACCACCTTGCAGGTCCAGTCAAGATACAGGATGTTTACATTACTCAGAAGGCTCCTCATGTCTCTTCTTATTCCTCATGTGTCTTCTTATTCATCATGTGTCTTCTTAGCAATACCCACCCCATTTCCCCTGGCAACGTAATCACTTTTTTGACTTCTGTCACCATCAATCTATCAATTAGCTTTACCTGTTCATGAACTGGAATGAACGTTTTAAAGGCTCTTGATGCACAAGCAGTGGGCATCTCTTTGGGTGATGTGACTTCTTGACTGCTCCCTGCCAGGGCTACAGCACAGTTATCTCTGTAACCCTGGCCTTAGCTCCTTCGGGGCAGGAGACAGCTGCTCACTGCCCAGGCCTGTGCAGGCATAAACAGACTTGGGGATGGCCAGGCCCAGGGTGGGAGGCATATCTTGGGAAGTGGATTTCAACAGGTGACTTGTTTGACCAGGCCCAGCCGCAGCCCCAGCCCCAGCCCCAGCCCCAAGCCCAGTCTCAGCCACCGTCATCCAACAAGCGTCCCAGCAATAGCACGCCGCCCCCCACGCAGCTCAGCAAAATCAAGTACTCAGGGGGGCCCCAGATTGTCAAGAAGGAGCGACGGCAAAGCTCCTCCCGCTTCAACCTCAGCAAGAATCGGGAGCTGCAGAAGCTTCCTGCCCTGAAAGGTACTTGGCAATTGGTCACAGGGGCTGTTTTACCAGTTCTAGTGGGCATCGGGAGTTGGTGGAATGGAAGTTTTGGGGTATTTTGCGGGGAAGGGAGTTCCAGAGAATGCGGGAAGGGGGTGCCAGGGAGCAGGATGGTGGCAGGGTGGGGTAAGGGAAAGCCCTTGAAGGCAAGCAGGGCATCGCAGTGAAGGACTACAGAGGAGAACCTGACTGCTGGGGCCCCCACAGATTCGCCAACCCAGGAGCGGGAGGAGCTGTTTATCCAGAAGCTACGCCAGTGCTGTGTCCTCTTTGACTTCGTGTCAGACCCACTCAGTGACCTCAAATTCAAGGAGGTGAAGCGGGCAGGACTCAACGAGATGGTGGAGTACATCACCCATAGCCGTGATGTTGTCACTGAGGCCATTTACCCTGAGGCTGTCACCATGGTGGGCACAGGGAAAGGACACAGGGGGGACTGGTGAGGGGCTCTGGAGAAGCCCAGGTGGAGCTCTAACTGGCCCTACCCCTCAGTTTTCAGTGAACCTCTTCCGGACGCTGCCACCTTCATCGAATCCCACAGGGGCTGAGTTTGACCCAGAGGAAGATGAGCCCACCCTGGAAGCTGCTTGGCCACATCTCCAGGTACCAGGGCAAGGGGGCAGATTGGCCGTGGCTGCAGGGAGTGGGGCACTTGGAGGCCTGCAAGTCCTTGGGAACATCCCCTCAGTGGCGTGCCTTTTCCCCTATAGCTCGTGTATGAGTTCTTCTTACGTTTCCTTGAGTCTCCTGATTTCCAGCCAAACATAGCCAAGAAGTACATCGACCAGAAGTTTGTACTTGCTGTGAGTCCCCGAGTTCCTGTCCTTGCCCTCTCTTTCCATTCCATGCCCCCTTCATCTGTGTCCCAGTGGCTCTTTCCCCTTAAGCTGAATATATTGGGTTTCATCCATGTCTGGTACGAGGAGGCTATAAAGGGTAAAAAACAAAACAAAACAAAACCCTACTCTGGCCTTAAGAAACTAACAACATAATGGTAGGAAACAAAAAAGCAACAGAGTACCTCTCTCAGGTCAATAGTGAGGCATCACTTTGGAAGTCTCAGTACAAATACAATAGAATCAGCAATATAATAGAATCACTGCTTTCTAAGACTTGCTGGCCCCCACTCCAGGGGACCTCTGCATTTCCCCTGGCGGGACCTATGTCACCCTGGCCACTGCCTTCCCTGGCTGCTGCCTCACTGGCTGCTTTCCCTCCCTTGTACCCCCAGCTCCTAGACCTATTTGACAGTGAGGATCCTCCAGAGCGGGACTTCCTCAAGACCATTTTGCATCGCATCTATGGCAAGTTTTTGGGGCTCCGGGCTTATATCCGTAGGCAGATCAACCACATCTTCTACAGGTGAGGCCAGGAGCCCAGGCTTAGGAGCAAAACCTTCTGCTACTGAGGTGGGGTGGGAGCAGGGAGGTGGGGGGACTGTACAGAATGCTGGAGGGACATCAGGGGTTGTCAAGAGAGCCATTTTTCTTCCCTCAGGTTCATCTACGAGACGGAGCATCACAACGGGATTGCTGAGCTCCTGGAGATCCTGGGCAGGTGAGAGGCCGGGTGGGGGCACAGATGCCTGAAAAAGGTTGGCAGGATTGGTGTACTGAACTTGGATCTGACCCTCTGGTCCTAACAAATGTCCCTTAATTCCTAGCATCATCAATGGCTTTGCCCTGCCCCTTAAAGAAGAGCACAAGATGTTCCTCATCCGTGTCCTACTTCCCCTTCACAAGGTCAAGTCCCTGAGTGTCTACCACCCTCAGGTGAGCTGCCTTCCTCCTTATAATGTCCAACTCAGGCAGCAGAGAAAAGAGCCGGCAGGAAAGTGTTCCAGCTGGGATAGGGGAAGCATAGGGAGCAGGTGGGATAATTCCTTCCCTCCATCTCCCCTTCCCTTCTGGGATCTTGTTTCTATCACTGACTTCTCTGAGAGCTTCTAGGACCTACACCTCACCTCCCTTCTACCTCACACCTTTGCAGCTGGCATACTGTGTGGTACAATTCCTGGAGAAGGAGAGCAGTCTGACTGAGCCGGTAATTCCCCTTCCGGGCCCCAAGGCCCACCTCTTACTGTCAGCATCACTTGCCAGTCTGTACCTACTGGGGGTGCCATAAGGGGGAACTCAGGAGGGCTGTGACCTGACCGGTAACATGGTTTCCTCTCTGAAGGGGAAGCAAAACCTATATACACCTAGGAAACAGATCCAAGGCAAAGAAACGGGTAGCTGGCTGAGATCACCCAAACTGTGCCCACCAGGGTGGGGGAGAGAGCAGGTAGGAAAACTTCCTGGTGACCTAGGCAGGTGCAAAGAATTTTCATCCCCATGCCCTCCTTGTCTCCCAGGTAATTGTGGGACTTCTCAAGTTTTGGCCCAAGACCCACAGCCCCAAGGAGGTGATGTTCTTGAATGAGCTGGAGGAGATTCTGGACGTCATTGAACCTTCTGAGTTCAGCAAAGTGATGGAACCCCTCTTCCGCCAGCTGGCCAAGTGTGTCTCTAGCCCCCATTTCCAGGTGAGACTCCAACCTAGCATATCCTAGCCCCTGCCAGAAACTGAGGTCTTGAGTGAAATGAGCAGCACCCACCGAGTCTGCCTCTCCCCACCAGGTGGCAGAGCGTGCTCTCTATTACTGGAACAATGAGTACATCATGAGCCTGATAAGTGACAATGCTGCCCGAGTCCTCCCCATCATGTTCCCTGCACTCTACAGGAACTCCAAGAGCCACTGGAACAAGTAAGGCGCTGGGGTGGGGCTGGGTGGTGGGGATCCAGTTTGGGAAACTTTGAGGGTATGGAAGAACTAAAGAGCCAGGGGTCTCACCTAGTCACCCAGCAAGTGGGGCTGATGTCCCCTGCATGTTGATAGGACCTTGAGGGGCTGACTGGAGCGAAAAGATGCCTGTGTGCAAGATCTCTGTGATACCAAACAGCAGGGCAGCGGCCTGTTACACCGCTCCTTGGGTTCAGCTATTCTACAGGTCCTATCACAGCTTTGGAGATGTAATTCTATGCAGTGAGAAGCTGATGTGACCTTCTTTGAGAGTATGTGTAAAGAATCCCAGGGTTTTAGGCCGGGCACGGTGTCTCACGCCTGTAATCCTAGCACTTTGGGAGGCTGGCAAGGCGGGTGGATCACGAGGTCAGGAGTTTGAGACCAGCCTGCCCAACATAGTGAAACCCCCATCTCTACTAAAAATACAAAAATTAGCTGGGTGTAGTGGTGGATGCCTGTAGTCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATCACTTGAACCTGGGAGGTGACGGTTGCAGTG
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Task1_train_10371
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The variant affects gene PPP2R5D (protein phosphatase 2 regulatory subunit B'delta), which is on Chromosome 6. Please evaluate whether this mutation is benign or pathogenic and specify the disease if necessary.
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Pathogenic; Inborn genetic diseases
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CTGGAAGCTGCTTGGCCACATCTCCAGGTACCAGGGCAAGGGGGCAGATTGGCCGTGGCTGCAGGGAGTGGGGCACTTGGAGGCCTGCAAGTCCTTGGGAACATCCCCTCAGTGGCGTGCCTTTTCCCCTATAGCTCGTGTATGAGTTCTTCTTACGTTTCCTTGAGTCTCCTGATTTCCAGCCAAACATAGCCAAGAAGTACATCGACCAGAAGTTTGTACTTGCTGTGAGTCCCCGAGTTCCTGTCCTTGCCCTCTCTTTCCATTCCATGCCCCCTTCATCTGTGTCCCAGTGGCTCTTTCCCCTTAAGCTGAATATATTGGGTTTCATCCATGTCTGGTACGAGGAGGCTATAAAGGGTAAAAAACAAAACAAAACAAAACCCTACTCTGGCCTTAAGAAACTAACAACATAATGGTAGGAAACAAAAAAGCAACAGAGTACCTCTCTCAGGTCAATAGTGAGGCATCACTTTGGAAGTCTCAGTACAAATACAATAGAATCAGCAATATAATAGAATCACTGCTTTCTAAGACTTGCTGGCCCCCACTCCAGGGGACCTCTGCATTTCCCCTGGCGGGACCTATGTCACCCTGGCCACTGCCTTCCCTGGCTGCTGCCTCACTGGCTGCTTTCCCTCCCTTGTACCCCCAGCTCCTAGACCTATTTGACAGTGAGGATCCTCGAGAGCGGGACTTCCTCAAGACCATTTTGCATCGCATCTATGGCAAGTTTTTGGGGCTCCGGGCTTATATCCGTAGGCAGATCAACCACATCTTCTACAGGTGAGGCCAGGAGCCCAGGCTTAGGAGCAAAACCTTCTGCTACTGAGGTGGGGTGGGAGCAGGGAGGTGGGGGGACTGTACAGAATGCTGGAGGGACATCAGGGGTTGTCAAGAGAGCCATTTTTCTTCCCTCAGGTTCATCTACGAGACGGAGCATCACAACGGGATTGCTGAGCTCCTGGAGATCCTGGGCAGGTGAGAGGCCGGGTGGGGGCACAGATGCCTGAAAAAGGTTGGCAGGATTGGTGTACTGAACTTGGATCTGACCCTCTGGTCCTAACAAATGTCCCTTAATTCCTAGCATCATCAATGGCTTTGCCCTGCCCCTTAAAGAAGAGCACAAGATGTTCCTCATCCGTGTCCTACTTCCCCTTCACAAGGTCAAGTCCCTGAGTGTCTACCACCCTCAGGTGAGCTGCCTTCCTCCTTATAATGTCCAACTCAGGCAGCAGAGAAAAGAGCCGGCAGGAAAGTGTTCCAGCTGGGATAGGGGAAGCATAGGGAGCAGGTGGGATAATTCCTTCCCTCCATCTCCCCTTCCCTTCTGGGATCTTGTTTCTATCACTGACTTCTCTGAGAGCTTCTAGGACCTACACCTCACCTCCCTTCTACCTCACACCTTTGCAGCTGGCATACTGTGTGGTACAATTCCTGGAGAAGGAGAGCAGTCTGACTGAGCCGGTAATTCCCCTTCCGGGCCCCAAGGCCCACCTCTTACTGTCAGCATCACTTGCCAGTCTGTACCTACTGGGGGTGCCATAAGGGGGAACTCAGGAGGGCTGTGACCTGACCGGTAACATGGTTTCCTCTCTGAAGGGGAAGCAAAACCTATATACACCTAGGAAACAGATCCAAGGCAAAGAAACGGGTAGCTGGCTGAGATCACCCAAACTGTGCCCACCAGGGTGGGGGAGAGAGCAGGTAGGAAAACTTCCTGGTGACCTAGGCAGGTGCAAAGAATTTTCATCCCCATGCCCTCCTTGTCTCCCAGGTAATTGTGGGACTTCTCAAGTTTTGGCCCAAGACCCACAGCCCCAAGGAGGTGATGTTCTTGAATGAGCTGGAGGAGATTCTGGACGTCATTGAACCTTCTGAGTTCAGCAAAGTGATGGAACCCCTCTTCCGCCAGCTGGCCAAGTGTGTCTCTAGCCCCCATTTCCAGGTGAGACTCCAACCTAGCATATCCTAGCCCCTGCCAGAAACTGAGGTCTTGAGTGAAATGAGCAGCACCCACCGAGTCTGCCTCTCCCCACCAGGTGGCAGAGCGTGCTCTCTATTACTGGAACAATGAGTACATCATGAGCCTGATAAGTGACAATGCTGCCCGAGTCCTCCCCATCATGTTCCCTGCACTCTACAGGAACTCCAAGAGCCACTGGAACAAGTAAGGCGCTGGGGTGGGGCTGGGTGGTGGGGATCCAGTTTGGGAAACTTTGAGGGTATGGAAGAACTAAAGAGCCAGGGGTCTCACCTAGTCACCCAGCAAGTGGGGCTGATGTCCCCTGCATGTTGATAGGACCTTGAGGGGCTGACTGGAGCGAAAAGATGCCTGTGTGCAAGATCTCTGTGATACCAAACAGCAGGGCAGCGGCCTGTTACACCGCTCCTTGGGTTCAGCTATTCTACAGGTCCTATCACAGCTTTGGAGATGTAATTCTATGCAGTGAGAAGCTGATGTGACCTTCTTTGAGAGTATGTGTAAAGAATCCCAGGGTTTTAGGCCGGGCACGGTGTCTCACGCCTGTAATCCTAGCACTTTGGGAGGCTGGCAAGGCGGGTGGATCACGAGGTCAGGAGTTTGAGACCAGCCTGCCCAACATAGTGAAACCCCCATCTCTACTAAAAATACAAAAATTAGCTGGGTGTAGTGGTGGATGCCTGTAGTCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATCACTTGAACCTGGGAGGTGACGGTTGCAGTGAGCCGAGATCGTGCCACTGCACTCCAGCCTGGGCAACAGAGTGAGACTCCGTCTTAAAAAAAAAACTCAGGGTTTTGAAAAGACTTTTCTGCTAAAAGCAAGCACACTGTGGTGTAGATGCAGTCTGTCATGCTGCATCTACATGCCCATCATGCTGCTGGGAGGCCATTAGTGTGGGTTAGAGTGGGAAAGGATGGGAGGTAGGCAGGCCTTGGAGCATGGGGTGAGGGAAGGATGGACAGGTGGACCGATATTTGTGAAAACCATGAAATGCCAGTCTCAAACCAGGTGATTTGGCCAGAGCTCTCTTCTGATACTGCACAGAGGTTTGTGAACTGGAAGTAGTAAATGACAAAGCTCTTAGCAGAGATACCCCTGTGAGAGAACAAATTGGGTTCCTCACGCTAAGGGCAGGCTCTGGCCTCCTACACCTCATCTTTCTTCTTGGTGGCAGGACAATCCATGGACTGATCTATAATGCCCTGAAGTTGTTTATGGAAATGAATCAGAAGCTGTTTGATGACTGCACACAACAATACAAGGCAGAGAAGCAGAAGTGAGTATCTCTCTCCCCGGGAGACTTTCATCTTCTACCACCAGCTCACTGTGTTTCTCTCAAGCCCAACCCCAATCCTACTTTTGCTCCTCAGGGGCCGGTTCCGAATGAAGGAAAGGGAAGAGATGTGGCAAAAAATCGAGGAGCTGGCCCGGCTTAATCCCCAGGTGAGGTTTTCCTGCCACTGTTGTGAACTGAGGGGCCAGCCCATCTTGAGCTGGGGGAGAGTTTGTTGGGGGAGGAATATGGGGCACACAGGCCCCCAAGCCTCTGAAGTGGCTCTTAACGCTTGTCCATGTCTCCTCACTCAGTATCCCATGTTCCGAGCCCCTCCACCACTGCCCCCTGTGTACTCGATGGAGACAGAGACCCCCACAGCTGAGGACATCCAGCTTCTGAAGAGGACTGTGGAGACTGAGGCTGTTCAGGTGGGAGGGCAATGTAGGGGGATGGAGCAGAAATAATAGCTCTGGAAGGGAGAGGAGACAGAAACAGCAGAGCCAAAGAATAAGGGGACGGAACAATAGAATTCACTGGGAATTGGTCACCATTCCTCACCTTGTCCCTATTCACACACAGATGCTAAAAGACATCAAGAAGGAGAAAGTGCTGCTGCGGAGGAAGTCGGAGCTGCCCCAGGACGTGTACACCATCAAGGCACTGGAGGCGCACAAGCGGGCGGAAGAGTTCCTAACTGCCAGCCAGGAGGCTCTCTGACCCCTCACGTTCCTACCACAGGGCCACAGCCCACACAGCCCTGGGACACTGCCCTGGCCCTCCATACTCTGCTCCCTACTGGCTGTCTT
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CTGGAAGCTGCTTGGCCACATCTCCAGGTACCAGGGCAAGGGGGCAGATTGGCCGTGGCTGCAGGGAGTGGGGCACTTGGAGGCCTGCAAGTCCTTGGGAACATCCCCTCAGTGGCGTGCCTTTTCCCCTATAGCTCGTGTATGAGTTCTTCTTACGTTTCCTTGAGTCTCCTGATTTCCAGCCAAACATAGCCAAGAAGTACATCGACCAGAAGTTTGTACTTGCTGTGAGTCCCCGAGTTCCTGTCCTTGCCCTCTCTTTCCATTCCATGCCCCCTTCATCTGTGTCCCAGTGGCTCTTTCCCCTTAAGCTGAATATATTGGGTTTCATCCATGTCTGGTACGAGGAGGCTATAAAGGGTAAAAAACAAAACAAAACAAAACCCTACTCTGGCCTTAAGAAACTAACAACATAATGGTAGGAAACAAAAAAGCAACAGAGTACCTCTCTCAGGTCAATAGTGAGGCATCACTTTGGAAGTCTCAGTACAAATACAATAGAATCAGCAATATAATAGAATCACTGCTTTCTAAGACTTGCTGGCCCCCACTCCAGGGGACCTCTGCATTTCCCCTGGCGGGACCTATGTCACCCTGGCCACTGCCTTCCCTGGCTGCTGCCTCACTGGCTGCTTTCCCTCCCTTGTACCCCCAGCTCCTAGACCTATTTGACAGTGAGGATCCTCGAGAGCGGGACTTCCTCAAGACCATTTTGCATCGCATCTATGGCAAGTTTTTGGGGCTCCGGGCTTATATCCGTAGGCAGATCAACCACATCTTCTACAGGTGAGGCCAGGAGCCCAGGCTTAGGAGCAAAACCTTCTGCTACTGAGGTGGGGTGGGAGCAGGGAGGTGGGGGGACTGTACAGAATGCTGGAGGGACATCAGGGGTTGTCAAGAGAGCCATTTTTCTTCCCTCAGGTTCATCTACGAGACGGAGCATCACAACGGGATTGCTGAGCTCCTGGAGATCCTGGGCAGGTGAGAGGCCGGGTGGGGGCACAGATGCCTGAAAAAGGTTGGCAGGATTGGTGTACTGAACTTGGATCTGACCCTCTGGTCCTAACAAATGTCCCTTAATTCCTAGCATCATCAATGGCTTTGCCCTGCCCCTTAAAGAAGAGCACAAGATGTTCCTCATCCGTGTCCTACTTCCCCTTCACAAGGTCAAGTCCCTGAGTGTCTACCACCCTCAGGTGAGCTGCCTTCCTCCTTATAATGTCCAACTCAGGCAGCAGAGAAAAGAGCCGGCAGGAAAGTGTTCCAGCTGGGATAGGGGAAGCATAGGGAGCAGGTGGGATAATTCCTTCCCTCCATCTCCCCTTCCCTTCTGGGATCTTGTTTCTATCACTGACTTCTCTGAGAGCTTCTAGGACCTACACCTCACCTCCCTTCTACCTCACACCTTTGCAGCTGGCATACTGTGTGGTACAATTCCTGGAGAAGGAGAGCAGTCTGACTGAGCCGGTAATTCCCCTTCCGGGCCCCAAGGCCCACCTCTTACTGTCAGCATCACTTGCCAGTCTGTACCTACTGGGGGTGCCATAAGGGGGAACTCAGGAGGGCTGTGACCTGACCGGTAACATGGTTTCCTCTCTGAAGGGGAAGCAAAACCTATATACACCTAGGAAACAGATCCAAGGCAAAGAAACGGGTAGCTGGCTGAGATCACCCAAACTGTGCCCACCAGGGTGGGGGAGAGAGCAGGTAGGAAAACTTCCTGGTGACCTAGGCAGGTGCAAAGAATTTTCATCCCCATGCCCTCCTTGTCTCCCAGGTAATTGTGGGACTTCTCAAGTTTTGGCCCAAGACCCACAGCCCCAAGGAGGTGATGTTCTTGAATGAGCTGGAGGAGATTCTGGACGTCATTGAACCTTCTGAGTTCAGCAAAGTGATGGAACCCCTCTTCCGCCAGCTGGCCAAGTGTGTCTCTAGCCCCCATTTCCAGGTGAGACTCCAACCTAGCATATCCTAGCCCCTGCCAGAAACTGAGGTCTTGAGTGAAATGAGCAGCACCCACCGAGTCTGCCTCTCCCCACCAGGTGGCAAAGCGTGCTCTCTATTACTGGAACAATGAGTACATCATGAGCCTGATAAGTGACAATGCTGCCCGAGTCCTCCCCATCATGTTCCCTGCACTCTACAGGAACTCCAAGAGCCACTGGAACAAGTAAGGCGCTGGGGTGGGGCTGGGTGGTGGGGATCCAGTTTGGGAAACTTTGAGGGTATGGAAGAACTAAAGAGCCAGGGGTCTCACCTAGTCACCCAGCAAGTGGGGCTGATGTCCCCTGCATGTTGATAGGACCTTGAGGGGCTGACTGGAGCGAAAAGATGCCTGTGTGCAAGATCTCTGTGATACCAAACAGCAGGGCAGCGGCCTGTTACACCGCTCCTTGGGTTCAGCTATTCTACAGGTCCTATCACAGCTTTGGAGATGTAATTCTATGCAGTGAGAAGCTGATGTGACCTTCTTTGAGAGTATGTGTAAAGAATCCCAGGGTTTTAGGCCGGGCACGGTGTCTCACGCCTGTAATCCTAGCACTTTGGGAGGCTGGCAAGGCGGGTGGATCACGAGGTCAGGAGTTTGAGACCAGCCTGCCCAACATAGTGAAACCCCCATCTCTACTAAAAATACAAAAATTAGCTGGGTGTAGTGGTGGATGCCTGTAGTCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATCACTTGAACCTGGGAGGTGACGGTTGCAGTGAGCCGAGATCGTGCCACTGCACTCCAGCCTGGGCAACAGAGTGAGACTCCGTCTTAAAAAAAAAACTCAGGGTTTTGAAAAGACTTTTCTGCTAAAAGCAAGCACACTGTGGTGTAGATGCAGTCTGTCATGCTGCATCTACATGCCCATCATGCTGCTGGGAGGCCATTAGTGTGGGTTAGAGTGGGAAAGGATGGGAGGTAGGCAGGCCTTGGAGCATGGGGTGAGGGAAGGATGGACAGGTGGACCGATATTTGTGAAAACCATGAAATGCCAGTCTCAAACCAGGTGATTTGGCCAGAGCTCTCTTCTGATACTGCACAGAGGTTTGTGAACTGGAAGTAGTAAATGACAAAGCTCTTAGCAGAGATACCCCTGTGAGAGAACAAATTGGGTTCCTCACGCTAAGGGCAGGCTCTGGCCTCCTACACCTCATCTTTCTTCTTGGTGGCAGGACAATCCATGGACTGATCTATAATGCCCTGAAGTTGTTTATGGAAATGAATCAGAAGCTGTTTGATGACTGCACACAACAATACAAGGCAGAGAAGCAGAAGTGAGTATCTCTCTCCCCGGGAGACTTTCATCTTCTACCACCAGCTCACTGTGTTTCTCTCAAGCCCAACCCCAATCCTACTTTTGCTCCTCAGGGGCCGGTTCCGAATGAAGGAAAGGGAAGAGATGTGGCAAAAAATCGAGGAGCTGGCCCGGCTTAATCCCCAGGTGAGGTTTTCCTGCCACTGTTGTGAACTGAGGGGCCAGCCCATCTTGAGCTGGGGGAGAGTTTGTTGGGGGAGGAATATGGGGCACACAGGCCCCCAAGCCTCTGAAGTGGCTCTTAACGCTTGTCCATGTCTCCTCACTCAGTATCCCATGTTCCGAGCCCCTCCACCACTGCCCCCTGTGTACTCGATGGAGACAGAGACCCCCACAGCTGAGGACATCCAGCTTCTGAAGAGGACTGTGGAGACTGAGGCTGTTCAGGTGGGAGGGCAATGTAGGGGGATGGAGCAGAAATAATAGCTCTGGAAGGGAGAGGAGACAGAAACAGCAGAGCCAAAGAATAAGGGGACGGAACAATAGAATTCACTGGGAATTGGTCACCATTCCTCACCTTGTCCCTATTCACACACAGATGCTAAAAGACATCAAGAAGGAGAAAGTGCTGCTGCGGAGGAAGTCGGAGCTGCCCCAGGACGTGTACACCATCAAGGCACTGGAGGCGCACAAGCGGGCGGAAGAGTTCCTAACTGCCAGCCAGGAGGCTCTCTGACCCCTCACGTTCCTACCACAGGGCCACAGCCCACACAGCCCTGGGACACTGCCCTGGCCCTCCATACTCTGCTCCCTACTGGCTGTCTT
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Task1_train_10372
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Consider a variant on Chromosome 6 in gene CUL7 (cullin 7). Determine its clinical classification and disease relevance.
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Pathogenic; 3-M syndrome
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TCTTTCTTTTTTTTTTTCTTGTTCTTCCAAATCCCTCGTTTTGAGAATCAAGGGGTAGGAGTTTGATGACAGCGTGTGCAGCTCTGCAAGGACAGAGAAGGGGTGGAGGCAGAGGAGGGGAAGAAAGGGGCAAAACGGAGGAGCTTGTGGGAGTAAGAACTGTGCTAGAACAGTTCTTTCTGGGCCTATGCCATCAGATGGAATACACATTCAGGTTGCTGGGTGCCTGCAGTGGCCACAGGGGTCAGTGACCTCACCTTCATCATGTCAGTCTTACTTAGGGAAGGCACCAAGGAACCACATTCACTGTTGGCAATGGTGGCCAAAATAGAGACTCACTGGCAATGCCTTCATTCACCACGTCAAATGCTTCCATACCTGTTACTTGTCGCAGTCCCACAGTGACTGGGCCAGTTCCACAAACGAGGAGAATTAAACCCTGCTCGATAATCTGCCCAAGTTACAAACCATCTGGTGAGTGGCCAAGTTGGGCTTGGATCTCCAGCCTGCCAGATGAAAGCACTTCTGACCACACACCCTCTGAGAAGGGGCTGAGTGCCATCATCCTGCCTGGTCCTCTCAATCTCTGCCTAGAGGGGGTGCTAAGTCACACCTGACTCCCTCTGCCTTTCTCCCAGTCTACCATCCTCACCCTAACAAGACCCTTGGCATATCATGCGACAGCCTCAGTGCCAAGGGCTCCTTCTCCACCAGCAAGGAAAACCCTCCCACCTCCCCACTCAAATCTCTAGCAGTCGCCAAACACACACGTCATATAATCAAACTCTTGGGTTTTATTTCTGTAAAAGCTCCAGCTCTACCTTCCCCTGACCCCAAGTCTAGGGCTACCGGAAGGTAGAGAAGCTCTGGGTGGCAGTGCAGGAGGCATAGGGCACACCCCGGGAGCGAATCTGTAGGGTATGGAAGGTGAGGGGTGGGTTGGGGCCTGAGGAGCCTGGGTTCAGGGACTCAGTGTGAGGCTCCATGACAGTCACAGGGACTGCATAGGACAGCACCTGGGGCCGGTCGTCATGGCGTCTCAGCGTGCCCTTGCCCAGGAGGTGTAGGATGCAGGAGAGGACGTCAGTGCTGCTGCATGCAGACCCCTTACCAAGGCTGCTGACCAAACCCCTGGGAGGACACGGGCCCTTCTGCCAAGCCTCCAGCACCTGGTGTGGGGGAGGAAGGGAGAAGCGGTAGTTTAGAGGCAGCTGACCCCTCCTTGCTTGAGCTTCCACTCCAACCACCAGCTGCTAGGACAGGATGCCCCAAGGACACGAGGTACATCCCGACCTCACTCCTCACACTCCTACAGGCTACACAGTGAACCAGGTGCCTCACCACACGTGCACCCACCTTGTCCTGTAGACTGCTCCCCCAACCCCAGCAAAGATCTGTCACCCATTGTGCCCACCCCTGCCTACCAGACAGACAAGCTGGTCAATGTGCAGCCCCTCATCTCCATGGGCCTTGAGGATTCGGACGATGAGGCAGTTCAGAAGATTCCGTCTCTTCTCCAAGTTCTGGCCGTCTTCACCCTCAGCTTGCAGGTACGTCTGAGGTGGGATGAGCCGCACAATGTCCCATCTCGACCTGGGTTCCTTGCTGCCATCTCGAATCTTGAGGACCCCTGAAATAAATGCTGATCACTCACTCAGTGGAGAGCCCACGAGGAGCCTGGCCCTGCCTCAGAGCAGAGGCCCCTCTGGCCCTAAGTGCATACCTCCTGGTATATCCTTTTGCTCGTGAAGGTCCAGGGGGCCTCTTGAAGAGGTGAGGGGCCCAATCGCCTGATTGAGCATGTCTGCGGAGAGCCCTGAGAACGCCAGCAGACTCTCCACAGAGACCGCCTTCAGAGAACAGATGGGAGACATTCAGGGCCTCCCCAAGGAGTGGAGAGAAGAGGATGGAGGGAAGAAGCAGAGGGAGTCAAGGTTTTGGGAAGAGAGGCAAGGGACAAAGTGGGAGACAGGAGAGAGGTGCAGCGGGGCTGGGCCACCTTCAGGTCGTTGAGATACAGCAGTAGCCACATCTGCACGGTGGACACATGCAGGGTCTGGTTCCCAAACTGCAGCTCAGCCCAGCCCAGCCACGTCCACTGCAGTCGCCTCTGTGAGCCTCGCTCAAGGGCAGGGTGGCTCTGACCTGGACCAGGAAGGGGGAGGGAGACAAAGAGCAGGTGAAAGGAGGGAGTTGGTGTTGGAGGGAGGGTGCACGCTGGTCACGCTCTGTTTATCTCTGCAAGGCGTGTGACCCCAGCATTTATGGACACTGGGGCTTCTGGTCTGAGCTTCCAGATCTCAGCCTTCTCTGGGCCTGCCTCTATGGCAAGCCTCAGGATCTGGGAGCTATCCTATGCCTAGCCTGGTGCCAAGCAGGTTCTCATCAGTGCCTTCGAGGATTGCCCCATGTGTTTTTAGGGAGACAAAACCATGAAGGGAGGAAGGACTGGGGCTCTTATCAAGCTGGAATATTATGACAGGAAACAATGTCTCCCCTATTAGGAGGCGCCCTGACCACAGGTCTGAGCCTCTTCCCCCTCCTGTGTTGCTGCCAGCTCAGGGATCAGCCCCCGATGGGGAGTTTAGGATGACAGGTGACTGACCAGAAAAGAGCCAGACACCTACTCATATCTGGTGGCCTCAGGTGCCTCCTGCCTCCATCCTCCCCGTCACCCACAAAGAGATTCCCAGGTCTTATTTTAGAACAGAAAAAGCAATGGTCTGGGGATCAGGTATCTGACAGCACCTGCCACCCCCAGCCACCAAGCTCCTGCCCTTTGTTCTCAAAACCACTGTTTTTCCCATGGCCTAGGGAATTCTTATCCCTAAAGACTATCTCTCCCTGAATCTATAAAAACAAAAATTAAAAATGTAAATTAAAAGACCAACTCTTTTTTTTTTTTTTTTTTTTTTTTGAGATGGAGTCTCGCTGTCGCCCAGGCTAGAGTGCAGTGGCACGATCTCGGCTCACTGCAACATCTGCCTGTGGGTTGAAGTGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCACACACCACCACACCCGGCTAATTTCTGTATTTTTAGCAGAGACGAGGTTTCACCATGTTGGCCAAGGCTGGTCTTGAACTCCTGACCTCAAGTGATCTGCCTGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCACTGTGCCCAGCCAAAGACTATCTCTTTTTACATCAAGCCTCCCAACATCAGGGTCTGCCCCCAACCCCAGGTCCTTTCCTAGCAGCCCACCCTCTCCCCAGTCCCCAGTCCCTCTGCCTGGCTGCTCACTCTTGTTGTAGAAGTTGGAGTATCTGTTCAAAGTGCCCCTCAGGTAGGAGGGCAGGCAGGTTCTGGGGTTCAGTGTGTGGCAGATTGAGGCAACAGGCCAGGAGTGTCGGGACAGGACAAGCACAGACACTTCTGGCATTGCCCCTTCATAGTAGAGGTCCTCATTCTCCTCCTCTTCCTCCTCTCCCTCCGCCACATCCACCACTGCTGCTGCCCCAGCTTCCTCTTCCTTCTCGCTCTTGTGCTCCTTGCCACTGGCCCCAAGGCCCACCTGAAGGAGCACAGGGTTCCCAGATGCCATGGCCTCCTCCAGTCTGCTCCACGCCCCTCTTCCCCCTACCCTCTTATTTGCTTATCCCTTCCAAGGCACTCACCTGTATTTTCTTCTCTGTATCCTCCAGCTTCAGGAGTTCCTGATCCAGCTGCTGGAGCTGGTAGACGTGGAACTGGCGCTGCAGCTCCTTAGAGGTGCTCAGGCTCTGCAACATCTGCTGGGGGAGGCGGTTGGGGAAGCAGGGACCGATCTGCTCCAGCACGGCCCCCTCCAGCCAGCTCGAGACCACGCCCAGGAGACGGTCCGCCATGTAGTGCCTGCAGTGCATGCAGCCCGGGCCAAGCCTCAGTGTGGGCACCAGTGTGGCCCAGCCTCCCACTCCAAGGCTCCAGCCTGCCTCTATCCCAGACTTCCAGGCCCATGAGCTGGCTCTGCCACCATCATCCTGCCTCCCGCCAGCTCCCGCTCCTTAGGTCCACACTCACTGGTAATAATGCTCAAAAGTGGTG
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TCTTTCTTTTTTTTTTTCTTGTTCTTCCAAATCCCTCGTTTTGAGAATCAAGGGGTAGGAGTTTGATGACAGCGTGTGCAGCTCTGCAAGGACAGAGAAGGGGTGGAGGCAGAGGAGGGGAAGAAAGGGGCAAAACGGAGGAGCTTGTGGGAGTAAGAACTGTGCTAGAACAGTTCTTTCTGGGCCTATGCCATCAGATGGAATACACATTCAGGTTGCTGGGTGCCTGCAGTGGCCACAGGGGTCAGTGACCTCACCTTCATCATGTCAGTCTTACTTAGGGAAGGCACCAAGGAACCACATTCACTGTTGGCAATGGTGGCCAAAATAGAGACTCACTGGCAATGCCTTCATTCACCACGTCAAATGCTTCCATACCTGTTACTTGTCGCAGTCCCACAGTGACTGGGCCAGTTCCACAAACGAGGAGAATTAAACCCTGCTCGATAATCTGCCCAAGTTACAAACCATCTGGTGAGTGGCCAAGTTGGGCTTGGATCTCCAGCCTGCCAGATGAAAGCACTTCTGACCACACACCCTCTGAGAAGGGGCTGAGTGCCATCATCCTGCCTGGTCCTCTCAATCTCTGCCTAGAGGGGGTGCTAAGTCACACCTGACTCCCTCTGCCTTTCTCCCAGTCTACCATCCTCACCCTAACAAGACCCTTGGCATATCATGCGACAGCCTCAGTGCCAAGGGCTCCTTCTCCACCAGCAAGGAAAACCCTCCCACCTCCCCACTCAAATCTCTAGCAGTCGCCAAACACACACGTCATATAATCAAACTCTTGGGTTTTATTTCTGTAAAAGCTCCAGCTCTACCTTCCCCTGACCCCAAGTCTAGGGCTACCGGAAGGTAGAGAAGCTCTGGGTGGCAGTGCAGGAGGCATAGGGCACACCCCGGGAGCGAATCTGTAGGGTATGGAAGGTGAGGGGTGGGTTGGGGCCTGAGGAGCCTGGGTTCAGGGACTCAGTGTGAGGCTCCATGACAGTCACAGGGACTGCATAGGACAGCACCTGGGGCCGGTCGTCATGGCGTCTCAGCGTGCCCTTGCCCAGGAGGTGTAGGATGCAGGAGAGGACGTCAGTGCTGCTGCATGCAGACCCCTTACCAAGGCTGCTGACCAAACCCCTGGGAGGACACGGGCCCTTCTGCCAAGCCTCCAGCACCTGGTGTGGGGGAGGAAGGGAGAAGCGGTAGTTTAGAGGCAGCTGACCCCTCCTTGCTTGAGCTTCCACTCCAACCACCAGCTGCTAGGACAGGATGCCCCAAGGACACGAGGTACATCCCGACCTCACTCCTCACACTCCTACAGGCTACACAGTGAACCAGGTGCCTCACCACACGTGCACCCACCTTGTCCTGTAGACTGCTCCCCCAACCCCAGCAAAGATCTGTCACCCATTGTGCCCACCCCTGCCTACCAGACAGACAAGCTGGTCAATGTGCAGCCCCTCATCTCCATGGGCCTTGAGGATTCGGACGATGAGGCAGTTCAGAAGATTCCGTCTCTTCTCCAAGTTCTGGCCGTCTTCACCCTCAGCTTGCAGGTACGTCTGAGGTGGGATGAGCCGCACAATGTCCCATCTCGACCTGGGTTCCTTGCTGCCATCTCGAATCTTGAGGACCCCTGAAATAAATGCTGATCACTCACTCAGTGGAGAGCCCACGAGGAGCCTGGCCCTGCCTCAGAGCAGAGGCCCCTCTGGCCCTAAGTGCATACCTCCTGGTATATCCTTTTGCTCGTGAAGGTCCAGGGGGCCTCTTGAAGAGGTGAGGGGCCCAATCGCCTGATTGAGCATGTCTGCGGAGAGCCCTGAGAACGCCAGCAGACTCTCCACAGAGACCGCCTTCAGAGAACAGATGGGAGACATTCAGGGCCTCCCCAAGGAGTGGAGAGAAGAGGATGGAGGGAAGAAGCAGAGGGAGTCAAGGTTTTGGGAAGAGAGGCAAGGGACAAAGTGGGAGACAGGAGAGAGGTGCAGCGGGGCTGGGCCACCTTCAGGTCGTTGAGATACAGCAGTAGCCACATCTGCACGGTGGACACAGGCAGGGTCTGGTTCCCAAACTGCAGCTCAGCCCAGCCCAGCCACGTCCACTGCAGTCGCCTCTGTGAGCCTCGCTCAAGGGCAGGGTGGCTCTGACCTGGACCAGGAAGGGGGAGGGAGACAAAGAGCAGGTGAAAGGAGGGAGTTGGTGTTGGAGGGAGGGTGCACGCTGGTCACGCTCTGTTTATCTCTGCAAGGCGTGTGACCCCAGCATTTATGGACACTGGGGCTTCTGGTCTGAGCTTCCAGATCTCAGCCTTCTCTGGGCCTGCCTCTATGGCAAGCCTCAGGATCTGGGAGCTATCCTATGCCTAGCCTGGTGCCAAGCAGGTTCTCATCAGTGCCTTCGAGGATTGCCCCATGTGTTTTTAGGGAGACAAAACCATGAAGGGAGGAAGGACTGGGGCTCTTATCAAGCTGGAATATTATGACAGGAAACAATGTCTCCCCTATTAGGAGGCGCCCTGACCACAGGTCTGAGCCTCTTCCCCCTCCTGTGTTGCTGCCAGCTCAGGGATCAGCCCCCGATGGGGAGTTTAGGATGACAGGTGACTGACCAGAAAAGAGCCAGACACCTACTCATATCTGGTGGCCTCAGGTGCCTCCTGCCTCCATCCTCCCCGTCACCCACAAAGAGATTCCCAGGTCTTATTTTAGAACAGAAAAAGCAATGGTCTGGGGATCAGGTATCTGACAGCACCTGCCACCCCCAGCCACCAAGCTCCTGCCCTTTGTTCTCAAAACCACTGTTTTTCCCATGGCCTAGGGAATTCTTATCCCTAAAGACTATCTCTCCCTGAATCTATAAAAACAAAAATTAAAAATGTAAATTAAAAGACCAACTCTTTTTTTTTTTTTTTTTTTTTTTTGAGATGGAGTCTCGCTGTCGCCCAGGCTAGAGTGCAGTGGCACGATCTCGGCTCACTGCAACATCTGCCTGTGGGTTGAAGTGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCACACACCACCACACCCGGCTAATTTCTGTATTTTTAGCAGAGACGAGGTTTCACCATGTTGGCCAAGGCTGGTCTTGAACTCCTGACCTCAAGTGATCTGCCTGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCACTGTGCCCAGCCAAAGACTATCTCTTTTTACATCAAGCCTCCCAACATCAGGGTCTGCCCCCAACCCCAGGTCCTTTCCTAGCAGCCCACCCTCTCCCCAGTCCCCAGTCCCTCTGCCTGGCTGCTCACTCTTGTTGTAGAAGTTGGAGTATCTGTTCAAAGTGCCCCTCAGGTAGGAGGGCAGGCAGGTTCTGGGGTTCAGTGTGTGGCAGATTGAGGCAACAGGCCAGGAGTGTCGGGACAGGACAAGCACAGACACTTCTGGCATTGCCCCTTCATAGTAGAGGTCCTCATTCTCCTCCTCTTCCTCCTCTCCCTCCGCCACATCCACCACTGCTGCTGCCCCAGCTTCCTCTTCCTTCTCGCTCTTGTGCTCCTTGCCACTGGCCCCAAGGCCCACCTGAAGGAGCACAGGGTTCCCAGATGCCATGGCCTCCTCCAGTCTGCTCCACGCCCCTCTTCCCCCTACCCTCTTATTTGCTTATCCCTTCCAAGGCACTCACCTGTATTTTCTTCTCTGTATCCTCCAGCTTCAGGAGTTCCTGATCCAGCTGCTGGAGCTGGTAGACGTGGAACTGGCGCTGCAGCTCCTTAGAGGTGCTCAGGCTCTGCAACATCTGCTGGGGGAGGCGGTTGGGGAAGCAGGGACCGATCTGCTCCAGCACGGCCCCCTCCAGCCAGCTCGAGACCACGCCCAGGAGACGGTCCGCCATGTAGTGCCTGCAGTGCATGCAGCCCGGGCCAAGCCTCAGTGTGGGCACCAGTGTGGCCCAGCCTCCCACTCCAAGGCTCCAGCCTGCCTCTATCCCAGACTTCCAGGCCCATGAGCTGGCTCTGCCACCATCATCCTGCCTCCCGCCAGCTCCCGCTCCTTAGGTCCACACTCACTGGTAATAATGCTCAAAAGTGGTG
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Task1_train_10373
|
Consider this mutation in CUL7 (cullin 7) on Chromosome 6. Is this a benign change or a disease-causing variant?
|
Pathogenic; 3M syndrome 1
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TCTTTCTTTTTTTTTTTCTTGTTCTTCCAAATCCCTCGTTTTGAGAATCAAGGGGTAGGAGTTTGATGACAGCGTGTGCAGCTCTGCAAGGACAGAGAAGGGGTGGAGGCAGAGGAGGGGAAGAAAGGGGCAAAACGGAGGAGCTTGTGGGAGTAAGAACTGTGCTAGAACAGTTCTTTCTGGGCCTATGCCATCAGATGGAATACACATTCAGGTTGCTGGGTGCCTGCAGTGGCCACAGGGGTCAGTGACCTCACCTTCATCATGTCAGTCTTACTTAGGGAAGGCACCAAGGAACCACATTCACTGTTGGCAATGGTGGCCAAAATAGAGACTCACTGGCAATGCCTTCATTCACCACGTCAAATGCTTCCATACCTGTTACTTGTCGCAGTCCCACAGTGACTGGGCCAGTTCCACAAACGAGGAGAATTAAACCCTGCTCGATAATCTGCCCAAGTTACAAACCATCTGGTGAGTGGCCAAGTTGGGCTTGGATCTCCAGCCTGCCAGATGAAAGCACTTCTGACCACACACCCTCTGAGAAGGGGCTGAGTGCCATCATCCTGCCTGGTCCTCTCAATCTCTGCCTAGAGGGGGTGCTAAGTCACACCTGACTCCCTCTGCCTTTCTCCCAGTCTACCATCCTCACCCTAACAAGACCCTTGGCATATCATGCGACAGCCTCAGTGCCAAGGGCTCCTTCTCCACCAGCAAGGAAAACCCTCCCACCTCCCCACTCAAATCTCTAGCAGTCGCCAAACACACACGTCATATAATCAAACTCTTGGGTTTTATTTCTGTAAAAGCTCCAGCTCTACCTTCCCCTGACCCCAAGTCTAGGGCTACCGGAAGGTAGAGAAGCTCTGGGTGGCAGTGCAGGAGGCATAGGGCACACCCCGGGAGCGAATCTGTAGGGTATGGAAGGTGAGGGGTGGGTTGGGGCCTGAGGAGCCTGGGTTCAGGGACTCAGTGTGAGGCTCCATGACAGTCACAGGGACTGCATAGGACAGCACCTGGGGCCGGTCGTCATGGCGTCTCAGCGTGCCCTTGCCCAGGAGGTGTAGGATGCAGGAGAGGACGTCAGTGCTGCTGCATGCAGACCCCTTACCAAGGCTGCTGACCAAACCCCTGGGAGGACACGGGCCCTTCTGCCAAGCCTCCAGCACCTGGTGTGGGGGAGGAAGGGAGAAGCGGTAGTTTAGAGGCAGCTGACCCCTCCTTGCTTGAGCTTCCACTCCAACCACCAGCTGCTAGGACAGGATGCCCCAAGGACACGAGGTACATCCCGACCTCACTCCTCACACTCCTACAGGCTACACAGTGAACCAGGTGCCTCACCACACGTGCACCCACCTTGTCCTGTAGACTGCTCCCCCAACCCCAGCAAAGATCTGTCACCCATTGTGCCCACCCCTGCCTACCAGACAGACAAGCTGGTCAATGTGCAGCCCCTCATCTCCATGGGCCTTGAGGATTCGGACGATGAGGCAGTTCAGAAGATTCCGTCTCTTCTCCAAGTTCTGGCCGTCTTCACCCTCAGCTTGCAGGTACGTCTGAGGTGGGATGAGCCGCACAATGTCCCATCTCGACCTGGGTTCCTTGCTGCCATCTCGAATCTTGAGGACCCCTGAAATAAATGCTGATCACTCACTCAGTGGAGAGCCCACGAGGAGCCTGGCCCTGCCTCAGAGCAGAGGCCCCTCTGGCCCTAAGTGCATACCTCCTGGTATATCCTTTTGCTCGTGAAGGTCCAGGGGGCCTCTTGAAGAGGTGAGGGGCCCAATCGCCTGATTGAGCATGTCTGCGGAGAGCCCTGAGAACGCCAGCAGACTCTCCACAGAGACCGCCTTCAGAGAACAGATGGGAGACATTCAGGGCCTCCCCAAGGAGTGGAGAGAAGAGGATGGAGGGAAGAAGCAGAGGGAGTCAAGGTTTTGGGAAGAGAGGCAAGGGACAAAGTGGGAGACAGGAGAGAGGTGCAGCGGGGCTGGGCCACCTTCAGGTCGTTGAGATACAGCAGTAGCCACATCTGCACGGTGGACACATGCAGGGTCTGGTTCCCAAACTGCAGCTCAGCCCAGCCCAGCCACGTCCACTGCAGTCGCCTCTGTGAGCCTCGCTCAAGGGCAGGGTGGCTCTGACCTGGACCAGGAAGGGGGAGGGAGACAAAGAGCAGGTGAAAGGAGGGAGTTGGTGTTGGAGGGAGGGTGCACGCTGGTCACGCTCTGTTTATCTCTGCAAGGCGTGTGACCCCAGCATTTATGGACACTGGGGCTTCTGGTCTGAGCTTCCAGATCTCAGCCTTCTCTGGGCCTGCCTCTATGGCAAGCCTCAGGATCTGGGAGCTATCCTATGCCTAGCCTGGTGCCAAGCAGGTTCTCATCAGTGCCTTCGAGGATTGCCCCATGTGTTTTTAGGGAGACAAAACCATGAAGGGAGGAAGGACTGGGGCTCTTATCAAGCTGGAATATTATGACAGGAAACAATGTCTCCCCTATTAGGAGGCGCCCTGACCACAGGTCTGAGCCTCTTCCCCCTCCTGTGTTGCTGCCAGCTCAGGGATCAGCCCCCGATGGGGAGTTTAGGATGACAGGTGACTGACCAGAAAAGAGCCAGACACCTACTCATATCTGGTGGCCTCAGGTGCCTCCTGCCTCCATCCTCCCCGTCACCCACAAAGAGATTCCCAGGTCTTATTTTAGAACAGAAAAAGCAATGGTCTGGGGATCAGGTATCTGACAGCACCTGCCACCCCCAGCCACCAAGCTCCTGCCCTTTGTTCTCAAAACCACTGTTTTTCCCATGGCCTAGGGAATTCTTATCCCTAAAGACTATCTCTCCCTGAATCTATAAAAACAAAAATTAAAAATGTAAATTAAAAGACCAACTCTTTTTTTTTTTTTTTTTTTTTTTTGAGATGGAGTCTCGCTGTCGCCCAGGCTAGAGTGCAGTGGCACGATCTCGGCTCACTGCAACATCTGCCTGTGGGTTGAAGTGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCACACACCACCACACCCGGCTAATTTCTGTATTTTTAGCAGAGACGAGGTTTCACCATGTTGGCCAAGGCTGGTCTTGAACTCCTGACCTCAAGTGATCTGCCTGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCACTGTGCCCAGCCAAAGACTATCTCTTTTTACATCAAGCCTCCCAACATCAGGGTCTGCCCCCAACCCCAGGTCCTTTCCTAGCAGCCCACCCTCTCCCCAGTCCCCAGTCCCTCTGCCTGGCTGCTCACTCTTGTTGTAGAAGTTGGAGTATCTGTTCAAAGTGCCCCTCAGGTAGGAGGGCAGGCAGGTTCTGGGGTTCAGTGTGTGGCAGATTGAGGCAACAGGCCAGGAGTGTCGGGACAGGACAAGCACAGACACTTCTGGCATTGCCCCTTCATAGTAGAGGTCCTCATTCTCCTCCTCTTCCTCCTCTCCCTCCGCCACATCCACCACTGCTGCTGCCCCAGCTTCCTCTTCCTTCTCGCTCTTGTGCTCCTTGCCACTGGCCCCAAGGCCCACCTGAAGGAGCACAGGGTTCCCAGATGCCATGGCCTCCTCCAGTCTGCTCCACGCCCCTCTTCCCCCTACCCTCTTATTTGCTTATCCCTTCCAAGGCACTCACCTGTATTTTCTTCTCTGTATCCTCCAGCTTCAGGAGTTCCTGATCCAGCTGCTGGAGCTGGTAGACGTGGAACTGGCGCTGCAGCTCCTTAGAGGTGCTCAGGCTCTGCAACATCTGCTGGGGGAGGCGGTTGGGGAAGCAGGGACCGATCTGCTCCAGCACGGCCCCCTCCAGCCAGCTCGAGACCACGCCCAGGAGACGGTCCGCCATGTAGTGCCTGCAGTGCATGCAGCCCGGGCCAAGCCTCAGTGTGGGCACCAGTGTGGCCCAGCCTCCCACTCCAAGGCTCCAGCCTGCCTCTATCCCAGACTTCCAGGCCCATGAGCTGGCTCTGCCACCATCATCCTGCCTCCCGCCAGCTCCCGCTCCTTAGGTCCACACTCACTGGTAATAATGCTCAAAAGTGGTG
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TCTTTCTTTTTTTTTTTCTTGTTCTTCCAAATCCCTCGTTTTGAGAATCAAGGGGTAGGAGTTTGATGACAGCGTGTGCAGCTCTGCAAGGACAGAGAAGGGGTGGAGGCAGAGGAGGGGAAGAAAGGGGCAAAACGGAGGAGCTTGTGGGAGTAAGAACTGTGCTAGAACAGTTCTTTCTGGGCCTATGCCATCAGATGGAATACACATTCAGGTTGCTGGGTGCCTGCAGTGGCCACAGGGGTCAGTGACCTCACCTTCATCATGTCAGTCTTACTTAGGGAAGGCACCAAGGAACCACATTCACTGTTGGCAATGGTGGCCAAAATAGAGACTCACTGGCAATGCCTTCATTCACCACGTCAAATGCTTCCATACCTGTTACTTGTCGCAGTCCCACAGTGACTGGGCCAGTTCCACAAACGAGGAGAATTAAACCCTGCTCGATAATCTGCCCAAGTTACAAACCATCTGGTGAGTGGCCAAGTTGGGCTTGGATCTCCAGCCTGCCAGATGAAAGCACTTCTGACCACACACCCTCTGAGAAGGGGCTGAGTGCCATCATCCTGCCTGGTCCTCTCAATCTCTGCCTAGAGGGGGTGCTAAGTCACACCTGACTCCCTCTGCCTTTCTCCCAGTCTACCATCCTCACCCTAACAAGACCCTTGGCATATCATGCGACAGCCTCAGTGCCAAGGGCTCCTTCTCCACCAGCAAGGAAAACCCTCCCACCTCCCCACTCAAATCTCTAGCAGTCGCCAAACACACACGTCATATAATCAAACTCTTGGGTTTTATTTCTGTAAAAGCTCCAGCTCTACCTTCCCCTGACCCCAAGTCTAGGGCTACCGGAAGGTAGAGAAGCTCTGGGTGGCAGTGCAGGAGGCATAGGGCACACCCCGGGAGCGAATCTGTAGGGTATGGAAGGTGAGGGGTGGGTTGGGGCCTGAGGAGCCTGGGTTCAGGGACTCAGTGTGAGGCTCCATGACAGTCACAGGGACTGCATAGGACAGCACCTGGGGCCGGTCGTCATGGCGTCTCAGCGTGCCCTTGCCCAGGAGGTGTAGGATGCAGGAGAGGACGTCAGTGCTGCTGCATGCAGACCCCTTACCAAGGCTGCTGACCAAACCCCTGGGAGGACACGGGCCCTTCTGCCAAGCCTCCAGCACCTGGTGTGGGGGAGGAAGGGAGAAGCGGTAGTTTAGAGGCAGCTGACCCCTCCTTGCTTGAGCTTCCACTCCAACCACCAGCTGCTAGGACAGGATGCCCCAAGGACACGAGGTACATCCCGACCTCACTCCTCACACTCCTACAGGCTACACAGTGAACCAGGTGCCTCACCACACGTGCACCCACCTTGTCCTGTAGACTGCTCCCCCAACCCCAGCAAAGATCTGTCACCCATTGTGCCCACCCCTGCCTACCAGACAGACAAGCTGGTCAATGTGCAGCCCCTCATCTCCATGGGCCTTGAGGATTCGGACGATGAGGCAGTTCAGAAGATTCCGTCTCTTCTCCAAGTTCTGGCCGTCTTCACCCTCAGCTTGCAGGTACGTCTGAGGTGGGATGAGCCGCACAATGTCCCATCTCGACCTGGGTTCCTTGCTGCCATCTCGAATCTTGAGGACCCCTGAAATAAATGCTGATCACTCACTCAGTGGAGAGCCCACGAGGAGCCTGGCCCTGCCTCAGAGCAGAGGCCCCTCTGGCCCTAAGTGCATACCTCCTGGTATATCCTTTTGCTCGTGAAGGTCCAGGGGGCCTCTTGAAGAGGTGAGGGGCCCAATCGCCTGATTGAGCATGTCTGCGGAGAGCCCTGAGAACGCCAGCAGACTCTCCACAGAGACCGCCTTCAGAGAACAGATGGGAGACATTCAGGGCCTCCCCAAGGAGTGGAGAGAAGAGGATGGAGGGAAGAAGCAGAGGGAGTCAAGGTTTTGGGAAGAGAGGCAAGGGACAAAGTGGGAGACAGGAGAGAGGTGCAGCGGGGCTGGGCCACCTTCAGGTCGTTGAGATACAGCAGTAGCCACATCTGCACGGTGGACACAGGCAGGGTCTGGTTCCCAAACTGCAGCTCAGCCCAGCCCAGCCACGTCCACTGCAGTCGCCTCTGTGAGCCTCGCTCAAGGGCAGGGTGGCTCTGACCTGGACCAGGAAGGGGGAGGGAGACAAAGAGCAGGTGAAAGGAGGGAGTTGGTGTTGGAGGGAGGGTGCACGCTGGTCACGCTCTGTTTATCTCTGCAAGGCGTGTGACCCCAGCATTTATGGACACTGGGGCTTCTGGTCTGAGCTTCCAGATCTCAGCCTTCTCTGGGCCTGCCTCTATGGCAAGCCTCAGGATCTGGGAGCTATCCTATGCCTAGCCTGGTGCCAAGCAGGTTCTCATCAGTGCCTTCGAGGATTGCCCCATGTGTTTTTAGGGAGACAAAACCATGAAGGGAGGAAGGACTGGGGCTCTTATCAAGCTGGAATATTATGACAGGAAACAATGTCTCCCCTATTAGGAGGCGCCCTGACCACAGGTCTGAGCCTCTTCCCCCTCCTGTGTTGCTGCCAGCTCAGGGATCAGCCCCCGATGGGGAGTTTAGGATGACAGGTGACTGACCAGAAAAGAGCCAGACACCTACTCATATCTGGTGGCCTCAGGTGCCTCCTGCCTCCATCCTCCCCGTCACCCACAAAGAGATTCCCAGGTCTTATTTTAGAACAGAAAAAGCAATGGTCTGGGGATCAGGTATCTGACAGCACCTGCCACCCCCAGCCACCAAGCTCCTGCCCTTTGTTCTCAAAACCACTGTTTTTCCCATGGCCTAGGGAATTCTTATCCCTAAAGACTATCTCTCCCTGAATCTATAAAAACAAAAATTAAAAATGTAAATTAAAAGACCAACTCTTTTTTTTTTTTTTTTTTTTTTTTGAGATGGAGTCTCGCTGTCGCCCAGGCTAGAGTGCAGTGGCACGATCTCGGCTCACTGCAACATCTGCCTGTGGGTTGAAGTGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCACACACCACCACACCCGGCTAATTTCTGTATTTTTAGCAGAGACGAGGTTTCACCATGTTGGCCAAGGCTGGTCTTGAACTCCTGACCTCAAGTGATCTGCCTGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCACTGTGCCCAGCCAAAGACTATCTCTTTTTACATCAAGCCTCCCAACATCAGGGTCTGCCCCCAACCCCAGGTCCTTTCCTAGCAGCCCACCCTCTCCCCAGTCCCCAGTCCCTCTGCCTGGCTGCTCACTCTTGTTGTAGAAGTTGGAGTATCTGTTCAAAGTGCCCCTCAGGTAGGAGGGCAGGCAGGTTCTGGGGTTCAGTGTGTGGCAGATTGAGGCAACAGGCCAGGAGTGTCGGGACAGGACAAGCACAGACACTTCTGGCATTGCCCCTTCATAGTAGAGGTCCTCATTCTCCTCCTCTTCCTCCTCTCCCTCCGCCACATCCACCACTGCTGCTGCCCCAGCTTCCTCTTCCTTCTCGCTCTTGTGCTCCTTGCCACTGGCCCCAAGGCCCACCTGAAGGAGCACAGGGTTCCCAGATGCCATGGCCTCCTCCAGTCTGCTCCACGCCCCTCTTCCCCCTACCCTCTTATTTGCTTATCCCTTCCAAGGCACTCACCTGTATTTTCTTCTCTGTATCCTCCAGCTTCAGGAGTTCCTGATCCAGCTGCTGGAGCTGGTAGACGTGGAACTGGCGCTGCAGCTCCTTAGAGGTGCTCAGGCTCTGCAACATCTGCTGGGGGAGGCGGTTGGGGAAGCAGGGACCGATCTGCTCCAGCACGGCCCCCTCCAGCCAGCTCGAGACCACGCCCAGGAGACGGTCCGCCATGTAGTGCCTGCAGTGCATGCAGCCCGGGCCAAGCCTCAGTGTGGGCACCAGTGTGGCCCAGCCTCCCACTCCAAGGCTCCAGCCTGCCTCTATCCCAGACTTCCAGGCCCATGAGCTGGCTCTGCCACCATCATCCTGCCTCCCGCCAGCTCCCGCTCCTTAGGTCCACACTCACTGGTAATAATGCTCAAAAGTGGTG
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Task1_train_10374
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A mutation on Chromosome 6 affecting POLR1C (RNA polymerase I and III subunit C) has been found. Is it harmful or harmless? What disease, if any, does it cause?
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Pathogenic; Hypomyelinating leukodystrophy 11
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TCCAGGCGTGAGCCACCATGCCCGGCTGGCAAGCACAGAGTTCTATAGGAACACCAGGAGAGAACAAACTGGGGATGGGATTGAGGAATGTGGAACAGAGGAAGTGACATCTGAGGTAGGTTTTGAGGGAAGATGAGTAGTCAGTTAGATGGAAAAGAAGAGGAAGATGGTGTGCTATTATTACTTGTTTCAGTGACAGGTGCAGTGATGAGAGGTGATGGGGTCATGAAGACGGGGAGCCCATCAGAGCCCAGGGCTTGAAATCTGACTGTAGTGTGCATGAAGGTCTAGGTGTTAGGAGGGAAGCTTCTTCAAGAGAAGGCTCCTCACCTGCTTCGCACCTGAGCAGGCTCCACATCAAAGTAGGGTCTGAGGATGTCGATGTTGGCGTACAAGCTGAAGGCCCTGGAGGCTTGTCTTTTCCCAGCCTGCCACATCTGAAGTAAGGAAGATGGGCATAGGTATTGTGGTACTGTTGGTTCTAGATCCTGTTGCCTATTTTCCGTTTGATTTCTACATGGTTCTAACTGGACAACCTGGGGCGAACATCACCAACACCAATTCCAGAACACGGGACATACCTAGGTCTACTTTTCTACCTGCAGAGGATTCAATCTTGCTTACCTGATCTGCCACCTGCCGGCTCAGCTGTCCCTTAAAGCCCTTCATGCCCAGGAACTCTCCATCCTCCTCTTCAGCAGCAGCTGCATCAGCTGCATCAGCGTCTACTTCTTCCTCGCGCAGGCGCTGATGCAGCTCACCCATATCCTCGAAGCTAGAGCCTGAGGTATCATCCATGTTCTCCATGTCAATCACAGCTGAGCCTCCGCCCTGTGAAGACAATGGCTCCTAGAGTGCAGGACTTTTCTGTTCCATCCATTAAGTCCTCTGCTCATCCCAGGGTTTAGGGCTTTGTTCTTCCACTGCTGAGGATACGGCTTGGAATCACTACAGATCATGCCACTCCATTCCCCCTCATATGCTCTCAGAACGCCTGGTTTCTAGCTTTGGCTATCTTTTCTAGCCTGGGAAACCTACTAGTCTTCCATTCATGTCTTTCTCCTATGTTACCTATCAAAGACTAAAAGGCTGAAAAAGTGCCCATTTCCTTCTTTCCTAAGCCCCAAACAAAACTATACACATAGTATGTTTTCAGCGAATGCCAGTGAATCCCACCCAACCCCACTCCATGCCTTACCCCGACCAACCTCCTAACTTGTTCCAAGAATACCTTCTTCCTAATGCCTCGGGCGGGCCCTGAAACCCGAGATCCTCAGGCTGGAGTAGTAGTCTGGCCCTTTCAGGTCAATGTTAATCCCACTGACTTTAGTGTGCACGAAGACCCAAAGAAGAGAGTTTTGTAAATGGAGCGGACTTCCAGGCCCAGAGGGGGAATCCCCAAGACACTTCTGGACATCGCCGGCCCTCCGGCTGCTGGCAGCTGGTGCCTTGGGGCCATTACCTGGATGTTTTCTTCGAACCCTCCCCATTCCGGGCCAGCTCCATTTCGGGCGCCGCCCGCCGGCGCCGCTGTAGTTGCCATGTCCCTTGAGGGCTCCCGTCGCTGAAACCCGCGCTAGCCCCGCGCGCGGAGTGGGCAAGATGTGGGCCTCCGGAAGGTAGACGTCCAGGGTCGAGGAGAGGTGGGATCGGCCGGAACACAAAAAGGAGAAGCCCGGATGTTTGGACAAAAGCAACTTCCGGAAGCTGGGGACGTGGACGGGGGCGGGGAAAAATCTCGCGATATTTAAGATTCCAGGAGGCGGTGCGTTGCCACGGAGACGGAGCAGGGCTACTAGGACGCACGCGCGAGATAGAACCTCTAGTCTCGTGGAGAGATTGAAGATGGCGGCTTCTCAGGCGGTGGAGGAAATGCGGAGCCGCGTGGTTCTGGGGGAGTTTGGGGTTCGCAATGTAAGCCTTGTGGCCTTGAGCTCGGGCGGGAGGAATGAGAGCGGAACAGGGATGGGTCTTGGGATTGGCGTGGGGATAGCTGTGGGCTCACTGTCCCTTCGTGGACAAATTCGTCCCTTTGCTCTAGGTCCATACTACTGACTTTCCCGGTAACTATTCCGGTTATGATGATGCCTGGGACCAGGACCGCTTCGAGAAGGTAAGTGGGGCCGGAGTTGTCTGGGGAGGGTTATGAAGGCCAGACCTTGTGGTCTGAGCAGCCTGTGTCTGTCTCAGAAGCTGCTCTTGGGGGTCGCTCCGTTTGTAAGTTTGTTGAGCAATGTGCTAGACGCTCCGTTTACAGGCCAAATTAGACACGGTTTCTACCCAGTTCTGCAAAGATGTTCAGTCTTGTTGAGGAATGGTGTGTATAAACAGTGAATCTAGTGTAATATGGTGAAGGTGGTTGATAGCGATGAAGACGGCAGGGTTGGGGTGGGGAGCATTACGCTGAGACCAGGAAGAGGGGCGGAGAGGTACTTAACATTTCAAGAGGAGGGTACATCTCAATTGAGCCTTGAATGGTAAGTAAAAAAGAACAGGAGTTAAATTATGAAGGGTTTGTTTCAAGTCAGTGAAGTTCAGGATATACAGGTTTTGTGTGTATTTAGTCTTTTGTATTGTTTCACTTAGCTTAAAATAAGGGTTAAAATTGCATTTAAATAGATTACTGAATGTTACCGTTTAGGCAACTGACCTTTGCGTGCAGCTTATAAACATGATCTGTAAATCAGTGCTTGGGAAAATTTTACTTTTTTAACCTGTTGATACAAGGAATAAAGTATGAACAATGAAAAAGGTTAATGCTTGAAAAAAAATTATGGCTTGTGTGAAGTGTGCTCCGGGCATGTCCAAGTAGTTCTGGCATGAGTGGTAGGCAAGGTTGAAGTGTGTCTTGGGCACTGTTGATGATAGGGAGATTGAATAGTTCTTAAGCAGACATGATGAGATTTGCAACCTTGGTGGCTGGGAGGGAATGAGTTTGAGGAGGATCATATGGAGCAGGCAGATCTGTTGTAAGGGAAGCTGAGGTTGAAGACATGAACTAAGACTGATGGTAGAAATAGAGCAAAGGTAGAATAGAAGGTAAATTTATGATTGCTTTGGTAAAGGCTGTGGGGGTAGCATAAAATGACTTTTTGGCTTGGGAACTGCTTTGATGCATTGTGGTATCATTTACTGAGAGGAGAAATGGGTCTGGGGAACGGGAATGATGATGCATTGTTTTCTGCATGTGGAGAAATCTAGCAGGCTAGAAGACTGCATGCTTGAAATGAGATCAGAAGTGAGATAACATTTTGGGAGTTGTCAGAACAGATAGTTGCTAAAACTGTTAGTACAGTTAAGGTGACCTGGGAGAGAGACAAGAACCTGGCAAATTTAGAGATGGGTGGAAGTCGATCATCAGAGAAGGAAGAAGAGTGGAGCTCAGAGCTCAGAAACCAGGGGAATAGTTCAAAAAAGGAGGAGATTTTTTTCTTTGCTTTTCATGAGGCACTCTTATGTCCCAGGCTGGAGTGCAGTGGCGCGATCTTGGCTCACTGCAACCTCCGCCTCCCGGGTTCAAGCAGTTCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGTCATGCGCCACTATGCCCAGCTAATTTTTTGTATTTTTGGTAGAGACGGGGTTTCACCATGCTGGCCAGGCTGGTCTCAAACTCCTGACCTTGTGATCTGCCCGTCTCAGCCTCCCAGAGTGCTGGGATTACAGGTGTGAGTGACTGTGCCGGGCCAGGAGGGGGTTTTTTAATCAATGCCAAGCATAACAGAAGTCTAGTAAGAGGACTGAGTAGTGTCAACAAAACTAAGCACTATGGTAGTTTCTGTTCTTCAGTAGAATAGCTTCTGTGGATGGTTTGGTTGGAAGCCATATTGCATAGGGTTTTAATGAATGGACGACAAAAATGGAGACTTTTCATGAAACTTAAAACACTGGGCGAGATAGAATATTTAATAAGAGACATTTGGGCAAAGGGAGGTTTTTGGATGAGAGGATAATACTTGAGGGAATTATCTAAGGGGGAGGTATGAAGAGATATTACACAGAGAGCAGATTTCACTTAAATGTTTTTTCCTGTCCCTCTAGAATTTCCGTGTGGATGTAGTACACATGG
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TCCAGGCGTGAGCCACCATGCCCGGCTGGCAAGCACAGAGTTCTATAGGAACACCAGGAGAGAACAAACTGGGGATGGGATTGAGGAATGTGGAACAGAGGAAGTGACATCTGAGGTAGGTTTTGAGGGAAGATGAGTAGTCAGTTAGATGGAAAAGAAGAGGAAGATGGTGTGCTATTATTACTTGTTTCAGTGACAGGTGCAGTGATGAGAGGTGATGGGGTCATGAAGACGGGGAGCCCATCAGAGCCCAGGGCTTGAAATCTGACTGTAGTGTGCATGAAGGTCTAGGTGTTAGGAGGGAAGCTTCTTCAAGAGAAGGCTCCTCACCTGCTTCGCACCTGAGCAGGCTCCACATCAAAGTAGGGTCTGAGGATGTCGATGTTGGCGTACAAGCTGAAGGCCCTGGAGGCTTGTCTTTTCCCAGCCTGCCACATCTGAAGTAAGGAAGATGGGCATAGGTATTGTGGTACTGTTGGTTCTAGATCCTGTTGCCTATTTTCCGTTTGATTTCTACATGGTTCTAACTGGACAACCTGGGGCGAACATCACCAACACCAATTCCAGAACACGGGACATACCTAGGTCTACTTTTCTACCTGCAGAGGATTCAATCTTGCTTACCTGATCTGCCACCTGCCGGCTCAGCTGTCCCTTAAAGCCCTTCATGCCCAGGAACTCTCCATCCTCCTCTTCAGCAGCAGCTGCATCAGCTGCATCAGCGTCTACTTCTTCCTCGCGCAGGCGCTGATGCAGCTCACCCATATCCTCGAAGCTAGAGCCTGAGGTATCATCCATGTTCTCCATGTCAATCACAGCTGAGCCTCCGCCCTGTGAAGACAATGGCTCCTAGAGTGCAGGACTTTTCTGTTCCATCCATTAAGTCCTCTGCTCATCCCAGGGTTTAGGGCTTTGTTCTTCCACTGCTGAGGATACGGCTTGGAATCACTACAGATCATGCCACTCCATTCCCCCTCATATGCTCTCAGAACGCCTGGTTTCTAGCTTTGGCTATCTTTTCTAGCCTGGGAAACCTACTAGTCTTCCATTCATGTCTTTCTCCTATGTTACCTATCAAAGACTAAAAGGCTGAAAAAGTGCCCATTTCCTTCTTTCCTAAGCCCCAAACAAAACTATACACATAGTATGTTTTCAGCGAATGCCAGTGAATCCCACCCAACCCCACTCCATGCCTTACCCCGACCAACCTCCTAACTTGTTCCAAGAATACCTTCTTCCTAATGCCTCGGGCGGGCCCTGAAACCCGAGATCCTCAGGCTGGAGTAGTAGTCTGGCCCTTTCAGGTCAATGTTAATCCCACTGACTTTAGTGTGCACGAAGACCCAAAGAAGAGAGTTTTGTAAATGGAGCGGACTTCCAGGCCCAGAGGGGGAATCCCCAAGACACTTCTGGACATCGCCGGCCCTCCGGCTGCTGGCAGCTGGTGCCTTGGGGCCATTACCTGGATGTTTTCTTCGAACCCTCCCCATTCCGGGCCAGCTCCATTTCGGGCGCCGCCCGCCGGCGCCGCTGTAGTTGCCATGTCCCTTGAGGGCTCCCGTCGCTGAAACCCGCGCTAGCCCCGCGCGCGGAGTGGGCAAGATGTGGGCCTCCGGAAGGTAGACGTCCAGGGTCGAGGAGAGGTGGGATCGGCCGGAACACAAAAAGGAGAAGCCCGGATGTTTGGACAAAAGCAACTTCCGGAAGCTGGGGACGTGGACGGGGGCGGGGAAAAATCTCGCGATATTTAAGATTCCAGGAGGCGGTGCGTTGCCACGGAGACGGAGCAGGGCTACTAGGACGCACGCGCGAGATAGAACCTCTAGTCTCGTGGAGAGATTGAAGATGGCGGCTTCTCAGGCGGTGGAGGAAATGCGGAGCCGCGTGGTTCTGGGGGAGTTTGGGGTTCGCAATGTAAGCCTTGTGGCCTTGAGCTCGGGCGGGAGGAATGAGAGCGGAACAGGGATGGGTCTTGGGATTGGCGTGGGGATAGCTGTGGGCTCACTGTCCCTTCGTGGACAAATTCGTCCCTTTGCTCTAGGTCCATATTACTGACTTTCCCGGTAACTATTCCGGTTATGATGATGCCTGGGACCAGGACCGCTTCGAGAAGGTAAGTGGGGCCGGAGTTGTCTGGGGAGGGTTATGAAGGCCAGACCTTGTGGTCTGAGCAGCCTGTGTCTGTCTCAGAAGCTGCTCTTGGGGGTCGCTCCGTTTGTAAGTTTGTTGAGCAATGTGCTAGACGCTCCGTTTACAGGCCAAATTAGACACGGTTTCTACCCAGTTCTGCAAAGATGTTCAGTCTTGTTGAGGAATGGTGTGTATAAACAGTGAATCTAGTGTAATATGGTGAAGGTGGTTGATAGCGATGAAGACGGCAGGGTTGGGGTGGGGAGCATTACGCTGAGACCAGGAAGAGGGGCGGAGAGGTACTTAACATTTCAAGAGGAGGGTACATCTCAATTGAGCCTTGAATGGTAAGTAAAAAAGAACAGGAGTTAAATTATGAAGGGTTTGTTTCAAGTCAGTGAAGTTCAGGATATACAGGTTTTGTGTGTATTTAGTCTTTTGTATTGTTTCACTTAGCTTAAAATAAGGGTTAAAATTGCATTTAAATAGATTACTGAATGTTACCGTTTAGGCAACTGACCTTTGCGTGCAGCTTATAAACATGATCTGTAAATCAGTGCTTGGGAAAATTTTACTTTTTTAACCTGTTGATACAAGGAATAAAGTATGAACAATGAAAAAGGTTAATGCTTGAAAAAAAATTATGGCTTGTGTGAAGTGTGCTCCGGGCATGTCCAAGTAGTTCTGGCATGAGTGGTAGGCAAGGTTGAAGTGTGTCTTGGGCACTGTTGATGATAGGGAGATTGAATAGTTCTTAAGCAGACATGATGAGATTTGCAACCTTGGTGGCTGGGAGGGAATGAGTTTGAGGAGGATCATATGGAGCAGGCAGATCTGTTGTAAGGGAAGCTGAGGTTGAAGACATGAACTAAGACTGATGGTAGAAATAGAGCAAAGGTAGAATAGAAGGTAAATTTATGATTGCTTTGGTAAAGGCTGTGGGGGTAGCATAAAATGACTTTTTGGCTTGGGAACTGCTTTGATGCATTGTGGTATCATTTACTGAGAGGAGAAATGGGTCTGGGGAACGGGAATGATGATGCATTGTTTTCTGCATGTGGAGAAATCTAGCAGGCTAGAAGACTGCATGCTTGAAATGAGATCAGAAGTGAGATAACATTTTGGGAGTTGTCAGAACAGATAGTTGCTAAAACTGTTAGTACAGTTAAGGTGACCTGGGAGAGAGACAAGAACCTGGCAAATTTAGAGATGGGTGGAAGTCGATCATCAGAGAAGGAAGAAGAGTGGAGCTCAGAGCTCAGAAACCAGGGGAATAGTTCAAAAAAGGAGGAGATTTTTTTCTTTGCTTTTCATGAGGCACTCTTATGTCCCAGGCTGGAGTGCAGTGGCGCGATCTTGGCTCACTGCAACCTCCGCCTCCCGGGTTCAAGCAGTTCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGTCATGCGCCACTATGCCCAGCTAATTTTTTGTATTTTTGGTAGAGACGGGGTTTCACCATGCTGGCCAGGCTGGTCTCAAACTCCTGACCTTGTGATCTGCCCGTCTCAGCCTCCCAGAGTGCTGGGATTACAGGTGTGAGTGACTGTGCCGGGCCAGGAGGGGGTTTTTTAATCAATGCCAAGCATAACAGAAGTCTAGTAAGAGGACTGAGTAGTGTCAACAAAACTAAGCACTATGGTAGTTTCTGTTCTTCAGTAGAATAGCTTCTGTGGATGGTTTGGTTGGAAGCCATATTGCATAGGGTTTTAATGAATGGACGACAAAAATGGAGACTTTTCATGAAACTTAAAACACTGGGCGAGATAGAATATTTAATAAGAGACATTTGGGCAAAGGGAGGTTTTTGGATGAGAGGATAATACTTGAGGGAATTATCTAAGGGGGAGGTATGAAGAGATATTACACAGAGAGCAGATTTCACTTAAATGTTTTTTCCTGTCCCTCTAGAATTTCCGTGTGGATGTAGTACACATGG
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Task1_train_10375
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This alteration occurs within gene POLR1C (RNA polymerase I and III subunit C) located on Chromosome 6. Is it associated with a disease or is it a benign variant?
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Pathogenic; Hypomyelinating leukodystrophy 11
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TGCCCGGCTGGCAAGCACAGAGTTCTATAGGAACACCAGGAGAGAACAAACTGGGGATGGGATTGAGGAATGTGGAACAGAGGAAGTGACATCTGAGGTAGGTTTTGAGGGAAGATGAGTAGTCAGTTAGATGGAAAAGAAGAGGAAGATGGTGTGCTATTATTACTTGTTTCAGTGACAGGTGCAGTGATGAGAGGTGATGGGGTCATGAAGACGGGGAGCCCATCAGAGCCCAGGGCTTGAAATCTGACTGTAGTGTGCATGAAGGTCTAGGTGTTAGGAGGGAAGCTTCTTCAAGAGAAGGCTCCTCACCTGCTTCGCACCTGAGCAGGCTCCACATCAAAGTAGGGTCTGAGGATGTCGATGTTGGCGTACAAGCTGAAGGCCCTGGAGGCTTGTCTTTTCCCAGCCTGCCACATCTGAAGTAAGGAAGATGGGCATAGGTATTGTGGTACTGTTGGTTCTAGATCCTGTTGCCTATTTTCCGTTTGATTTCTACATGGTTCTAACTGGACAACCTGGGGCGAACATCACCAACACCAATTCCAGAACACGGGACATACCTAGGTCTACTTTTCTACCTGCAGAGGATTCAATCTTGCTTACCTGATCTGCCACCTGCCGGCTCAGCTGTCCCTTAAAGCCCTTCATGCCCAGGAACTCTCCATCCTCCTCTTCAGCAGCAGCTGCATCAGCTGCATCAGCGTCTACTTCTTCCTCGCGCAGGCGCTGATGCAGCTCACCCATATCCTCGAAGCTAGAGCCTGAGGTATCATCCATGTTCTCCATGTCAATCACAGCTGAGCCTCCGCCCTGTGAAGACAATGGCTCCTAGAGTGCAGGACTTTTCTGTTCCATCCATTAAGTCCTCTGCTCATCCCAGGGTTTAGGGCTTTGTTCTTCCACTGCTGAGGATACGGCTTGGAATCACTACAGATCATGCCACTCCATTCCCCCTCATATGCTCTCAGAACGCCTGGTTTCTAGCTTTGGCTATCTTTTCTAGCCTGGGAAACCTACTAGTCTTCCATTCATGTCTTTCTCCTATGTTACCTATCAAAGACTAAAAGGCTGAAAAAGTGCCCATTTCCTTCTTTCCTAAGCCCCAAACAAAACTATACACATAGTATGTTTTCAGCGAATGCCAGTGAATCCCACCCAACCCCACTCCATGCCTTACCCCGACCAACCTCCTAACTTGTTCCAAGAATACCTTCTTCCTAATGCCTCGGGCGGGCCCTGAAACCCGAGATCCTCAGGCTGGAGTAGTAGTCTGGCCCTTTCAGGTCAATGTTAATCCCACTGACTTTAGTGTGCACGAAGACCCAAAGAAGAGAGTTTTGTAAATGGAGCGGACTTCCAGGCCCAGAGGGGGAATCCCCAAGACACTTCTGGACATCGCCGGCCCTCCGGCTGCTGGCAGCTGGTGCCTTGGGGCCATTACCTGGATGTTTTCTTCGAACCCTCCCCATTCCGGGCCAGCTCCATTTCGGGCGCCGCCCGCCGGCGCCGCTGTAGTTGCCATGTCCCTTGAGGGCTCCCGTCGCTGAAACCCGCGCTAGCCCCGCGCGCGGAGTGGGCAAGATGTGGGCCTCCGGAAGGTAGACGTCCAGGGTCGAGGAGAGGTGGGATCGGCCGGAACACAAAAAGGAGAAGCCCGGATGTTTGGACAAAAGCAACTTCCGGAAGCTGGGGACGTGGACGGGGGCGGGGAAAAATCTCGCGATATTTAAGATTCCAGGAGGCGGTGCGTTGCCACGGAGACGGAGCAGGGCTACTAGGACGCACGCGCGAGATAGAACCTCTAGTCTCGTGGAGAGATTGAAGATGGCGGCTTCTCAGGCGGTGGAGGAAATGCGGAGCCGCGTGGTTCTGGGGGAGTTTGGGGTTCGCAATGTAAGCCTTGTGGCCTTGAGCTCGGGCGGGAGGAATGAGAGCGGAACAGGGATGGGTCTTGGGATTGGCGTGGGGATAGCTGTGGGCTCACTGTCCCTTCGTGGACAAATTCGTCCCTTTGCTCTAGGTCCATACTACTGACTTTCCCGGTAACTATTCCGGTTATGATGATGCCTGGGACCAGGACCGCTTCGAGAAGGTAAGTGGGGCCGGAGTTGTCTGGGGAGGGTTATGAAGGCCAGACCTTGTGGTCTGAGCAGCCTGTGTCTGTCTCAGAAGCTGCTCTTGGGGGTCGCTCCGTTTGTAAGTTTGTTGAGCAATGTGCTAGACGCTCCGTTTACAGGCCAAATTAGACACGGTTTCTACCCAGTTCTGCAAAGATGTTCAGTCTTGTTGAGGAATGGTGTGTATAAACAGTGAATCTAGTGTAATATGGTGAAGGTGGTTGATAGCGATGAAGACGGCAGGGTTGGGGTGGGGAGCATTACGCTGAGACCAGGAAGAGGGGCGGAGAGGTACTTAACATTTCAAGAGGAGGGTACATCTCAATTGAGCCTTGAATGGTAAGTAAAAAAGAACAGGAGTTAAATTATGAAGGGTTTGTTTCAAGTCAGTGAAGTTCAGGATATACAGGTTTTGTGTGTATTTAGTCTTTTGTATTGTTTCACTTAGCTTAAAATAAGGGTTAAAATTGCATTTAAATAGATTACTGAATGTTACCGTTTAGGCAACTGACCTTTGCGTGCAGCTTATAAACATGATCTGTAAATCAGTGCTTGGGAAAATTTTACTTTTTTAACCTGTTGATACAAGGAATAAAGTATGAACAATGAAAAAGGTTAATGCTTGAAAAAAAATTATGGCTTGTGTGAAGTGTGCTCCGGGCATGTCCAAGTAGTTCTGGCATGAGTGGTAGGCAAGGTTGAAGTGTGTCTTGGGCACTGTTGATGATAGGGAGATTGAATAGTTCTTAAGCAGACATGATGAGATTTGCAACCTTGGTGGCTGGGAGGGAATGAGTTTGAGGAGGATCATATGGAGCAGGCAGATCTGTTGTAAGGGAAGCTGAGGTTGAAGACATGAACTAAGACTGATGGTAGAAATAGAGCAAAGGTAGAATAGAAGGTAAATTTATGATTGCTTTGGTAAAGGCTGTGGGGGTAGCATAAAATGACTTTTTGGCTTGGGAACTGCTTTGATGCATTGTGGTATCATTTACTGAGAGGAGAAATGGGTCTGGGGAACGGGAATGATGATGCATTGTTTTCTGCATGTGGAGAAATCTAGCAGGCTAGAAGACTGCATGCTTGAAATGAGATCAGAAGTGAGATAACATTTTGGGAGTTGTCAGAACAGATAGTTGCTAAAACTGTTAGTACAGTTAAGGTGACCTGGGAGAGAGACAAGAACCTGGCAAATTTAGAGATGGGTGGAAGTCGATCATCAGAGAAGGAAGAAGAGTGGAGCTCAGAGCTCAGAAACCAGGGGAATAGTTCAAAAAAGGAGGAGATTTTTTTCTTTGCTTTTCATGAGGCACTCTTATGTCCCAGGCTGGAGTGCAGTGGCGCGATCTTGGCTCACTGCAACCTCCGCCTCCCGGGTTCAAGCAGTTCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGTCATGCGCCACTATGCCCAGCTAATTTTTTGTATTTTTGGTAGAGACGGGGTTTCACCATGCTGGCCAGGCTGGTCTCAAACTCCTGACCTTGTGATCTGCCCGTCTCAGCCTCCCAGAGTGCTGGGATTACAGGTGTGAGTGACTGTGCCGGGCCAGGAGGGGGTTTTTTAATCAATGCCAAGCATAACAGAAGTCTAGTAAGAGGACTGAGTAGTGTCAACAAAACTAAGCACTATGGTAGTTTCTGTTCTTCAGTAGAATAGCTTCTGTGGATGGTTTGGTTGGAAGCCATATTGCATAGGGTTTTAATGAATGGACGACAAAAATGGAGACTTTTCATGAAACTTAAAACACTGGGCGAGATAGAATATTTAATAAGAGACATTTGGGCAAAGGGAGGTTTTTGGATGAGAGGATAATACTTGAGGGAATTATCTAAGGGGGAGGTATGAAGAGATATTACACAGAGAGCAGATTTCACTTAAATGTTTTTTCCTGTCCCTCTAGAATTTCCGTGTGGATGTAGTACACATGGATGAAAACTCACTGGAGT
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TGCCCGGCTGGCAAGCACAGAGTTCTATAGGAACACCAGGAGAGAACAAACTGGGGATGGGATTGAGGAATGTGGAACAGAGGAAGTGACATCTGAGGTAGGTTTTGAGGGAAGATGAGTAGTCAGTTAGATGGAAAAGAAGAGGAAGATGGTGTGCTATTATTACTTGTTTCAGTGACAGGTGCAGTGATGAGAGGTGATGGGGTCATGAAGACGGGGAGCCCATCAGAGCCCAGGGCTTGAAATCTGACTGTAGTGTGCATGAAGGTCTAGGTGTTAGGAGGGAAGCTTCTTCAAGAGAAGGCTCCTCACCTGCTTCGCACCTGAGCAGGCTCCACATCAAAGTAGGGTCTGAGGATGTCGATGTTGGCGTACAAGCTGAAGGCCCTGGAGGCTTGTCTTTTCCCAGCCTGCCACATCTGAAGTAAGGAAGATGGGCATAGGTATTGTGGTACTGTTGGTTCTAGATCCTGTTGCCTATTTTCCGTTTGATTTCTACATGGTTCTAACTGGACAACCTGGGGCGAACATCACCAACACCAATTCCAGAACACGGGACATACCTAGGTCTACTTTTCTACCTGCAGAGGATTCAATCTTGCTTACCTGATCTGCCACCTGCCGGCTCAGCTGTCCCTTAAAGCCCTTCATGCCCAGGAACTCTCCATCCTCCTCTTCAGCAGCAGCTGCATCAGCTGCATCAGCGTCTACTTCTTCCTCGCGCAGGCGCTGATGCAGCTCACCCATATCCTCGAAGCTAGAGCCTGAGGTATCATCCATGTTCTCCATGTCAATCACAGCTGAGCCTCCGCCCTGTGAAGACAATGGCTCCTAGAGTGCAGGACTTTTCTGTTCCATCCATTAAGTCCTCTGCTCATCCCAGGGTTTAGGGCTTTGTTCTTCCACTGCTGAGGATACGGCTTGGAATCACTACAGATCATGCCACTCCATTCCCCCTCATATGCTCTCAGAACGCCTGGTTTCTAGCTTTGGCTATCTTTTCTAGCCTGGGAAACCTACTAGTCTTCCATTCATGTCTTTCTCCTATGTTACCTATCAAAGACTAAAAGGCTGAAAAAGTGCCCATTTCCTTCTTTCCTAAGCCCCAAACAAAACTATACACATAGTATGTTTTCAGCGAATGCCAGTGAATCCCACCCAACCCCACTCCATGCCTTACCCCGACCAACCTCCTAACTTGTTCCAAGAATACCTTCTTCCTAATGCCTCGGGCGGGCCCTGAAACCCGAGATCCTCAGGCTGGAGTAGTAGTCTGGCCCTTTCAGGTCAATGTTAATCCCACTGACTTTAGTGTGCACGAAGACCCAAAGAAGAGAGTTTTGTAAATGGAGCGGACTTCCAGGCCCAGAGGGGGAATCCCCAAGACACTTCTGGACATCGCCGGCCCTCCGGCTGCTGGCAGCTGGTGCCTTGGGGCCATTACCTGGATGTTTTCTTCGAACCCTCCCCATTCCGGGCCAGCTCCATTTCGGGCGCCGCCCGCCGGCGCCGCTGTAGTTGCCATGTCCCTTGAGGGCTCCCGTCGCTGAAACCCGCGCTAGCCCCGCGCGCGGAGTGGGCAAGATGTGGGCCTCCGGAAGGTAGACGTCCAGGGTCGAGGAGAGGTGGGATCGGCCGGAACACAAAAAGGAGAAGCCCGGATGTTTGGACAAAAGCAACTTCCGGAAGCTGGGGACGTGGACGGGGGCGGGGAAAAATCTCGCGATATTTAAGATTCCAGGAGGCGGTGCGTTGCCACGGAGACGGAGCAGGGCTACTAGGACGCACGCGCGAGATAGAACCTCTAGTCTCGTGGAGAGATTGAAGATGGCGGCTTCTCAGGCGGTGGAGGAAATGCGGAGCCGCGTGGTTCTGGGGGAGTTTGGGGTTCGCAATGTAAGCCTTGTGGCCTTGAGCTCGGGCGGGAGGAATGAGAGCGGAACAGGGATGGGTCTTGGGATTGGCGTGGGGATAGCTGTGGGCTCACTGTCCCTTCGTGGACAAATTCGTCCCTTTGCTCTAGGTCCATACTACTGACTTTCCCGGTATCTATTCCGGTTATGATGATGCCTGGGACCAGGACCGCTTCGAGAAGGTAAGTGGGGCCGGAGTTGTCTGGGGAGGGTTATGAAGGCCAGACCTTGTGGTCTGAGCAGCCTGTGTCTGTCTCAGAAGCTGCTCTTGGGGGTCGCTCCGTTTGTAAGTTTGTTGAGCAATGTGCTAGACGCTCCGTTTACAGGCCAAATTAGACACGGTTTCTACCCAGTTCTGCAAAGATGTTCAGTCTTGTTGAGGAATGGTGTGTATAAACAGTGAATCTAGTGTAATATGGTGAAGGTGGTTGATAGCGATGAAGACGGCAGGGTTGGGGTGGGGAGCATTACGCTGAGACCAGGAAGAGGGGCGGAGAGGTACTTAACATTTCAAGAGGAGGGTACATCTCAATTGAGCCTTGAATGGTAAGTAAAAAAGAACAGGAGTTAAATTATGAAGGGTTTGTTTCAAGTCAGTGAAGTTCAGGATATACAGGTTTTGTGTGTATTTAGTCTTTTGTATTGTTTCACTTAGCTTAAAATAAGGGTTAAAATTGCATTTAAATAGATTACTGAATGTTACCGTTTAGGCAACTGACCTTTGCGTGCAGCTTATAAACATGATCTGTAAATCAGTGCTTGGGAAAATTTTACTTTTTTAACCTGTTGATACAAGGAATAAAGTATGAACAATGAAAAAGGTTAATGCTTGAAAAAAAATTATGGCTTGTGTGAAGTGTGCTCCGGGCATGTCCAAGTAGTTCTGGCATGAGTGGTAGGCAAGGTTGAAGTGTGTCTTGGGCACTGTTGATGATAGGGAGATTGAATAGTTCTTAAGCAGACATGATGAGATTTGCAACCTTGGTGGCTGGGAGGGAATGAGTTTGAGGAGGATCATATGGAGCAGGCAGATCTGTTGTAAGGGAAGCTGAGGTTGAAGACATGAACTAAGACTGATGGTAGAAATAGAGCAAAGGTAGAATAGAAGGTAAATTTATGATTGCTTTGGTAAAGGCTGTGGGGGTAGCATAAAATGACTTTTTGGCTTGGGAACTGCTTTGATGCATTGTGGTATCATTTACTGAGAGGAGAAATGGGTCTGGGGAACGGGAATGATGATGCATTGTTTTCTGCATGTGGAGAAATCTAGCAGGCTAGAAGACTGCATGCTTGAAATGAGATCAGAAGTGAGATAACATTTTGGGAGTTGTCAGAACAGATAGTTGCTAAAACTGTTAGTACAGTTAAGGTGACCTGGGAGAGAGACAAGAACCTGGCAAATTTAGAGATGGGTGGAAGTCGATCATCAGAGAAGGAAGAAGAGTGGAGCTCAGAGCTCAGAAACCAGGGGAATAGTTCAAAAAAGGAGGAGATTTTTTTCTTTGCTTTTCATGAGGCACTCTTATGTCCCAGGCTGGAGTGCAGTGGCGCGATCTTGGCTCACTGCAACCTCCGCCTCCCGGGTTCAAGCAGTTCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGTCATGCGCCACTATGCCCAGCTAATTTTTTGTATTTTTGGTAGAGACGGGGTTTCACCATGCTGGCCAGGCTGGTCTCAAACTCCTGACCTTGTGATCTGCCCGTCTCAGCCTCCCAGAGTGCTGGGATTACAGGTGTGAGTGACTGTGCCGGGCCAGGAGGGGGTTTTTTAATCAATGCCAAGCATAACAGAAGTCTAGTAAGAGGACTGAGTAGTGTCAACAAAACTAAGCACTATGGTAGTTTCTGTTCTTCAGTAGAATAGCTTCTGTGGATGGTTTGGTTGGAAGCCATATTGCATAGGGTTTTAATGAATGGACGACAAAAATGGAGACTTTTCATGAAACTTAAAACACTGGGCGAGATAGAATATTTAATAAGAGACATTTGGGCAAAGGGAGGTTTTTGGATGAGAGGATAATACTTGAGGGAATTATCTAAGGGGGAGGTATGAAGAGATATTACACAGAGAGCAGATTTCACTTAAATGTTTTTTCCTGTCCCTCTAGAATTTCCGTGTGGATGTAGTACACATGGATGAAAACTCACTGGAGT
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Task1_train_10376
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Consider a variant on Chromosome 6 in gene POLR1C (RNA polymerase I and III subunit C). Determine its clinical classification and disease relevance.
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Pathogenic; Hypomyelinating leukodystrophy 11
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GAGAGGTACTTAACATTTCAAGAGGAGGGTACATCTCAATTGAGCCTTGAATGGTAAGTAAAAAAGAACAGGAGTTAAATTATGAAGGGTTTGTTTCAAGTCAGTGAAGTTCAGGATATACAGGTTTTGTGTGTATTTAGTCTTTTGTATTGTTTCACTTAGCTTAAAATAAGGGTTAAAATTGCATTTAAATAGATTACTGAATGTTACCGTTTAGGCAACTGACCTTTGCGTGCAGCTTATAAACATGATCTGTAAATCAGTGCTTGGGAAAATTTTACTTTTTTAACCTGTTGATACAAGGAATAAAGTATGAACAATGAAAAAGGTTAATGCTTGAAAAAAAATTATGGCTTGTGTGAAGTGTGCTCCGGGCATGTCCAAGTAGTTCTGGCATGAGTGGTAGGCAAGGTTGAAGTGTGTCTTGGGCACTGTTGATGATAGGGAGATTGAATAGTTCTTAAGCAGACATGATGAGATTTGCAACCTTGGTGGCTGGGAGGGAATGAGTTTGAGGAGGATCATATGGAGCAGGCAGATCTGTTGTAAGGGAAGCTGAGGTTGAAGACATGAACTAAGACTGATGGTAGAAATAGAGCAAAGGTAGAATAGAAGGTAAATTTATGATTGCTTTGGTAAAGGCTGTGGGGGTAGCATAAAATGACTTTTTGGCTTGGGAACTGCTTTGATGCATTGTGGTATCATTTACTGAGAGGAGAAATGGGTCTGGGGAACGGGAATGATGATGCATTGTTTTCTGCATGTGGAGAAATCTAGCAGGCTAGAAGACTGCATGCTTGAAATGAGATCAGAAGTGAGATAACATTTTGGGAGTTGTCAGAACAGATAGTTGCTAAAACTGTTAGTACAGTTAAGGTGACCTGGGAGAGAGACAAGAACCTGGCAAATTTAGAGATGGGTGGAAGTCGATCATCAGAGAAGGAAGAAGAGTGGAGCTCAGAGCTCAGAAACCAGGGGAATAGTTCAAAAAAGGAGGAGATTTTTTTCTTTGCTTTTCATGAGGCACTCTTATGTCCCAGGCTGGAGTGCAGTGGCGCGATCTTGGCTCACTGCAACCTCCGCCTCCCGGGTTCAAGCAGTTCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGTCATGCGCCACTATGCCCAGCTAATTTTTTGTATTTTTGGTAGAGACGGGGTTTCACCATGCTGGCCAGGCTGGTCTCAAACTCCTGACCTTGTGATCTGCCCGTCTCAGCCTCCCAGAGTGCTGGGATTACAGGTGTGAGTGACTGTGCCGGGCCAGGAGGGGGTTTTTTAATCAATGCCAAGCATAACAGAAGTCTAGTAAGAGGACTGAGTAGTGTCAACAAAACTAAGCACTATGGTAGTTTCTGTTCTTCAGTAGAATAGCTTCTGTGGATGGTTTGGTTGGAAGCCATATTGCATAGGGTTTTAATGAATGGACGACAAAAATGGAGACTTTTCATGAAACTTAAAACACTGGGCGAGATAGAATATTTAATAAGAGACATTTGGGCAAAGGGAGGTTTTTGGATGAGAGGATAATACTTGAGGGAATTATCTAAGGGGGAGGTATGAAGAGATATTACACAGAGAGCAGATTTCACTTAAATGTTTTTTCCTGTCCCTCTAGAATTTCCGTGTGGATGTAGTACACATGGATGAAAACTCACTGGAGTTTGACATGGTGGGAATTGACGCAGCCATTGCCAATGCTTTTCGACGAATTCTGCTAGCTGAGGTATTGGCAGGCATGGTGACAAGGCTGGAGTTGCTTTGGGAACTGCACTGACACCTCACTTGGAGAATTAAGTGTCTCAAGCTGTCCTTCCCTCCTTAATTTTCCTGGAATTTTGCTGAGCATTTTACCTTCTCATTCTTTGTAAATTTCTCATTAAACATTCTAGGAAGAGAGATAGCTCCCTACCTCTGGAGGTTGGGGTTACGGGGATAGGTAGGGGGTCTGTTGGGTTTTTGCAGATAAGTGGTTATTTTTCCTTGGGCAGGTGCCAACTATGGCTGTGGAGAAGGTCCTGGTGTACAATAATACATCCATTGTTCAGGATGAGATTCTTGCTCACCGTCTGGGGCTCATTCCCATTCATGCTGATCCCCGTCTTTTTGAGTATCGGAACCAAGGTGAGAAAATGAAATTTTGGGAGAAGTGGACTATCTGGGTTCAAATCCTGGTTGACTGTGATGTTGGGTAAGTTACTTATCTTTGTACATCAGTGTCTTTCATCTGTGAGAACACTTGCCTTGTCTCCCAAGTTTGCCATAATTAAATGGGAAACACGTAAAGCATTCAGCATAGTGCTGGCACTCAGACGTTTACTAGTTCTTAGGAGCTCCCTCCATTTGTGCAGGAGATGAAGAAGGCACAGAGATAGATACTCTACAGTTTCGTCTCCAGGTCAGATGCACTCGGAACCCCCATGCTGCTAAAGATTCCTCTGACCCCAACGAACTGTACGTGAACCACAAAGGTGAGTAGTGGTAGGGTGAGGAAGAGGCCCCACCTGTGGGTAGCTGCTAGTTTTAGGGACTGAGATCTTCTGACATGTTTTTCCTCCAGTGTATACCAGGCATATGACATGGATCCCCCTGGGGAACCAGGCTGATCTCTTTCCAGAGGGCACTATCCGACCAGTGCATGATGATATCCTCATCGCTCAGCTGCGGCCTGGCCAAGAAATTGACCTGCTCATGCACTGTGTCAAGGGCATTGGTGAGAACCCTGTGTGCCTTCCTGGGAAGGGGGATAGTTCGGTTGCAGTGGGGCAAGCTGACTAGGGAACTCAGCTGAGACATTCCCGGCAGGTAGAAAGCCAAGAGGGTTGTGCTTTTGCTGTTAGTAGCTTAGGAGGAGTATTCTTCCTAACCCTAGAAGGGTTTCCTATAGGCACGTTCCCTCTTCCTCTCCAGGCAAAGATCATGCCAAGTTTTCACCAGTGGCAACAGCCAGTTACAGGCTCCTGCCAGACATCACCCTGCTTGAGCCCGTGGAAGGGGAGGCAGCTGAGGAGTTGAGCAGGTGCTTCTCACCTGGTGTTATTGAGGTGCAGGAAGTCCAAGGTATGGTATTTGGGATGCTGTTCAAGTTAGGACCTAAATTATATTTTCTTTCAAGGTGACAGAAATAAAAACCCTGGGCTCCTAAAAGTATAACCTGGTTTGCTACCAAGTGGCAAATTAGAAAAAGGAATAAAAAAACATGGTTTGTTCTCATTAGGTAAAAAGGTGGCCAGAGTTGCCAACCCCCGGCTGGATACCTTCAGCAGAGAAATCTTCCGGAATGAGAAGCTAAAGAAGGTTGTGAGGCTTGCCCGGGTTCGAGATCATTATATCTGTGAGTATGAAGTGGTGAGATGAGTGGGCAGTGCTCTTTGGTGCTGCAGCTTCCTTCCAGTCTAGATGTGAAGTTTATGAGTAAGTTTTACAGGCAAGCCCTGCCTAGACTAAAGTGTCTCTTTGGTCCCCAGTCTCTGTTGAGTCAACGGGGGTGTTGCCACCAGATGTGCTGGTGAGTGAAGCCATCAAAGTACTGATGGGGAAGTGCCGGCGCTTCTTGGATGAACTAGATGCGGTTCAGATGGACTGAGCTTGGATGCTTCTGAGGCAAGCTGAAGCTTTGGGTTCTGACTGACCCACCCTACAGGACTGCTGAACAGAGAGCCCAGTGTGACTAGGGATCCTGAGTTTTCTGGGACAATTCCAGCTTTAATCAATACATTTTGTTAAATGTGCCATAAAATGAGACTTTTTACGCCTTTATAAGGCCTTAGATGTAAATAAACTCACCCAAACAAAAAAACTTTTTGAGACTACTTTTGAGTTTGTTTTTTGAGACAGTCTCACTGTGTTGCCCAGGCTGGAGTGCAGTGGTGCAATCTCAGCTCACTGCAGCTTCCTCCTGGGTTCAAGCAATTCTCAGGAGGCTGAGGCAAGAGTAGCTGATGCTACAGGCATGCACCACCACACCTAGCTATATGTCTAATTTTTTGTATTTTTAGTAGAGACAGGGTTTCACCATGTTGGTCAGGCTGGTGTCAAACTCCTGACCTCAAGTGATACGCCTGCCTTGG
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GAGAGGTACTTAACATTTCAAGAGGAGGGTACATCTCAATTGAGCCTTGAATGGTAAGTAAAAAAGAACAGGAGTTAAATTATGAAGGGTTTGTTTCAAGTCAGTGAAGTTCAGGATATACAGGTTTTGTGTGTATTTAGTCTTTTGTATTGTTTCACTTAGCTTAAAATAAGGGTTAAAATTGCATTTAAATAGATTACTGAATGTTACCGTTTAGGCAACTGACCTTTGCGTGCAGCTTATAAACATGATCTGTAAATCAGTGCTTGGGAAAATTTTACTTTTTTAACCTGTTGATACAAGGAATAAAGTATGAACAATGAAAAAGGTTAATGCTTGAAAAAAAATTATGGCTTGTGTGAAGTGTGCTCCGGGCATGTCCAAGTAGTTCTGGCATGAGTGGTAGGCAAGGTTGAAGTGTGTCTTGGGCACTGTTGATGATAGGGAGATTGAATAGTTCTTAAGCAGACATGATGAGATTTGCAACCTTGGTGGCTGGGAGGGAATGAGTTTGAGGAGGATCATATGGAGCAGGCAGATCTGTTGTAAGGGAAGCTGAGGTTGAAGACATGAACTAAGACTGATGGTAGAAATAGAGCAAAGGTAGAATAGAAGGTAAATTTATGATTGCTTTGGTAAAGGCTGTGGGGGTAGCATAAAATGACTTTTTGGCTTGGGAACTGCTTTGATGCATTGTGGTATCATTTACTGAGAGGAGAAATGGGTCTGGGGAACGGGAATGATGATGCATTGTTTTCTGCATGTGGAGAAATCTAGCAGGCTAGAAGACTGCATGCTTGAAATGAGATCAGAAGTGAGATAACATTTTGGGAGTTGTCAGAACAGATAGTTGCTAAAACTGTTAGTACAGTTAAGGTGACCTGGGAGAGAGACAAGAACCTGGCAAATTTAGAGATGGGTGGAAGTCGATCATCAGAGAAGGAAGAAGAGTGGAGCTCAGAGCTCAGAAACCAGGGGAATAGTTCAAAAAAGGAGGAGATTTTTTTCTTTGCTTTTCATGAGGCACTCTTATGTCCCAGGCTGGAGTGCAGTGGCGCGATCTTGGCTCACTGCAACCTCCGCCTCCCGGGTTCAAGCAGTTCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGTCATGCGCCACTATGCCCAGCTAATTTTTTGTATTTTTGGTAGAGACGGGGTTTCACCATGCTGGCCAGGCTGGTCTCAAACTCCTGACCTTGTGATCTGCCCGTCTCAGCCTCCCAGAGTGCTGGGATTACAGGTGTGAGTGACTGTGCCGGGCCAGGAGGGGGTTTTTTAATCAATGCCAAGCATAACAGAAGTCTAGTAAGAGGACTGAGTAGTGTCAACAAAACTAAGCACTATGGTAGTTTCTGTTCTTCAGTAGAATAGCTTCTGTGGATGGTTTGGTTGGAAGCCATATTGCATAGGGTTTTAATGAATGGACGACAAAAATGGAGACTTTTCATGAAACTTAAAACACTGGGCGAGATAGAATATTTAATAAGAGACATTTGGGCAAAGGGAGGTTTTTGGATGAGAGGATAATACTTGAGGGAATTATCTAAGGGGGAGGTATGAAGAGATATTACACAGAGAGCAGATTTCACTTAAATGTTTTTTCCTGTCCCTCTAGAATTTCCGTGTGGATGTAGTACACATGGATGAAAACTCACTGGAGTTTGACATGGTGGGAATTGACGCAGCCATTGCCAATGCTTTTCGACGAATTCTGCTAGCTGAGGTATTGGCAGGCATGGTGACAAGGCTGGAGTTGCTTTGGGAACTGCACTGACACCTCACTTGGAGAATTAAGTGTCTCAAGCTGTCCTTCCCTCCTTAATTTTCCTGGAATTTTGCTGAGCATTTTACCTTCTCATTCTTTGTAAATTTCTCATTAAACATTCTAGGAAGAGAGATAGCTCCCTACCTCTGGAGGTTGGGGTTACGGGGATAGGTAGGGGGTCTGTTGGGTTTTTGCAGATAAGTGGTTATTTTTCCTTGGGCAGGTGCCAACTATGGCTGTGGAGAAGGTCCTGGCGTACAATAATACATCCATTGTTCAGGATGAGATTCTTGCTCACCGTCTGGGGCTCATTCCCATTCATGCTGATCCCCGTCTTTTTGAGTATCGGAACCAAGGTGAGAAAATGAAATTTTGGGAGAAGTGGACTATCTGGGTTCAAATCCTGGTTGACTGTGATGTTGGGTAAGTTACTTATCTTTGTACATCAGTGTCTTTCATCTGTGAGAACACTTGCCTTGTCTCCCAAGTTTGCCATAATTAAATGGGAAACACGTAAAGCATTCAGCATAGTGCTGGCACTCAGACGTTTACTAGTTCTTAGGAGCTCCCTCCATTTGTGCAGGAGATGAAGAAGGCACAGAGATAGATACTCTACAGTTTCGTCTCCAGGTCAGATGCACTCGGAACCCCCATGCTGCTAAAGATTCCTCTGACCCCAACGAACTGTACGTGAACCACAAAGGTGAGTAGTGGTAGGGTGAGGAAGAGGCCCCACCTGTGGGTAGCTGCTAGTTTTAGGGACTGAGATCTTCTGACATGTTTTTCCTCCAGTGTATACCAGGCATATGACATGGATCCCCCTGGGGAACCAGGCTGATCTCTTTCCAGAGGGCACTATCCGACCAGTGCATGATGATATCCTCATCGCTCAGCTGCGGCCTGGCCAAGAAATTGACCTGCTCATGCACTGTGTCAAGGGCATTGGTGAGAACCCTGTGTGCCTTCCTGGGAAGGGGGATAGTTCGGTTGCAGTGGGGCAAGCTGACTAGGGAACTCAGCTGAGACATTCCCGGCAGGTAGAAAGCCAAGAGGGTTGTGCTTTTGCTGTTAGTAGCTTAGGAGGAGTATTCTTCCTAACCCTAGAAGGGTTTCCTATAGGCACGTTCCCTCTTCCTCTCCAGGCAAAGATCATGCCAAGTTTTCACCAGTGGCAACAGCCAGTTACAGGCTCCTGCCAGACATCACCCTGCTTGAGCCCGTGGAAGGGGAGGCAGCTGAGGAGTTGAGCAGGTGCTTCTCACCTGGTGTTATTGAGGTGCAGGAAGTCCAAGGTATGGTATTTGGGATGCTGTTCAAGTTAGGACCTAAATTATATTTTCTTTCAAGGTGACAGAAATAAAAACCCTGGGCTCCTAAAAGTATAACCTGGTTTGCTACCAAGTGGCAAATTAGAAAAAGGAATAAAAAAACATGGTTTGTTCTCATTAGGTAAAAAGGTGGCCAGAGTTGCCAACCCCCGGCTGGATACCTTCAGCAGAGAAATCTTCCGGAATGAGAAGCTAAAGAAGGTTGTGAGGCTTGCCCGGGTTCGAGATCATTATATCTGTGAGTATGAAGTGGTGAGATGAGTGGGCAGTGCTCTTTGGTGCTGCAGCTTCCTTCCAGTCTAGATGTGAAGTTTATGAGTAAGTTTTACAGGCAAGCCCTGCCTAGACTAAAGTGTCTCTTTGGTCCCCAGTCTCTGTTGAGTCAACGGGGGTGTTGCCACCAGATGTGCTGGTGAGTGAAGCCATCAAAGTACTGATGGGGAAGTGCCGGCGCTTCTTGGATGAACTAGATGCGGTTCAGATGGACTGAGCTTGGATGCTTCTGAGGCAAGCTGAAGCTTTGGGTTCTGACTGACCCACCCTACAGGACTGCTGAACAGAGAGCCCAGTGTGACTAGGGATCCTGAGTTTTCTGGGACAATTCCAGCTTTAATCAATACATTTTGTTAAATGTGCCATAAAATGAGACTTTTTACGCCTTTATAAGGCCTTAGATGTAAATAAACTCACCCAAACAAAAAAACTTTTTGAGACTACTTTTGAGTTTGTTTTTTGAGACAGTCTCACTGTGTTGCCCAGGCTGGAGTGCAGTGGTGCAATCTCAGCTCACTGCAGCTTCCTCCTGGGTTCAAGCAATTCTCAGGAGGCTGAGGCAAGAGTAGCTGATGCTACAGGCATGCACCACCACACCTAGCTATATGTCTAATTTTTTGTATTTTTAGTAGAGACAGGGTTTCACCATGTTGGTCAGGCTGGTGTCAAACTCCTGACCTCAAGTGATACGCCTGCCTTGG
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Task1_train_10377
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This genomic variant is located on Chromosome 6, within the POLR1C (RNA polymerase I and III subunit C) gene. Can you determine its pathogenicity and name any linked disease?
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Pathogenic; Hypomyelinating leukodystrophy 11
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ATCTCAATTGAGCCTTGAATGGTAAGTAAAAAAGAACAGGAGTTAAATTATGAAGGGTTTGTTTCAAGTCAGTGAAGTTCAGGATATACAGGTTTTGTGTGTATTTAGTCTTTTGTATTGTTTCACTTAGCTTAAAATAAGGGTTAAAATTGCATTTAAATAGATTACTGAATGTTACCGTTTAGGCAACTGACCTTTGCGTGCAGCTTATAAACATGATCTGTAAATCAGTGCTTGGGAAAATTTTACTTTTTTAACCTGTTGATACAAGGAATAAAGTATGAACAATGAAAAAGGTTAATGCTTGAAAAAAAATTATGGCTTGTGTGAAGTGTGCTCCGGGCATGTCCAAGTAGTTCTGGCATGAGTGGTAGGCAAGGTTGAAGTGTGTCTTGGGCACTGTTGATGATAGGGAGATTGAATAGTTCTTAAGCAGACATGATGAGATTTGCAACCTTGGTGGCTGGGAGGGAATGAGTTTGAGGAGGATCATATGGAGCAGGCAGATCTGTTGTAAGGGAAGCTGAGGTTGAAGACATGAACTAAGACTGATGGTAGAAATAGAGCAAAGGTAGAATAGAAGGTAAATTTATGATTGCTTTGGTAAAGGCTGTGGGGGTAGCATAAAATGACTTTTTGGCTTGGGAACTGCTTTGATGCATTGTGGTATCATTTACTGAGAGGAGAAATGGGTCTGGGGAACGGGAATGATGATGCATTGTTTTCTGCATGTGGAGAAATCTAGCAGGCTAGAAGACTGCATGCTTGAAATGAGATCAGAAGTGAGATAACATTTTGGGAGTTGTCAGAACAGATAGTTGCTAAAACTGTTAGTACAGTTAAGGTGACCTGGGAGAGAGACAAGAACCTGGCAAATTTAGAGATGGGTGGAAGTCGATCATCAGAGAAGGAAGAAGAGTGGAGCTCAGAGCTCAGAAACCAGGGGAATAGTTCAAAAAAGGAGGAGATTTTTTTCTTTGCTTTTCATGAGGCACTCTTATGTCCCAGGCTGGAGTGCAGTGGCGCGATCTTGGCTCACTGCAACCTCCGCCTCCCGGGTTCAAGCAGTTCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGTCATGCGCCACTATGCCCAGCTAATTTTTTGTATTTTTGGTAGAGACGGGGTTTCACCATGCTGGCCAGGCTGGTCTCAAACTCCTGACCTTGTGATCTGCCCGTCTCAGCCTCCCAGAGTGCTGGGATTACAGGTGTGAGTGACTGTGCCGGGCCAGGAGGGGGTTTTTTAATCAATGCCAAGCATAACAGAAGTCTAGTAAGAGGACTGAGTAGTGTCAACAAAACTAAGCACTATGGTAGTTTCTGTTCTTCAGTAGAATAGCTTCTGTGGATGGTTTGGTTGGAAGCCATATTGCATAGGGTTTTAATGAATGGACGACAAAAATGGAGACTTTTCATGAAACTTAAAACACTGGGCGAGATAGAATATTTAATAAGAGACATTTGGGCAAAGGGAGGTTTTTGGATGAGAGGATAATACTTGAGGGAATTATCTAAGGGGGAGGTATGAAGAGATATTACACAGAGAGCAGATTTCACTTAAATGTTTTTTCCTGTCCCTCTAGAATTTCCGTGTGGATGTAGTACACATGGATGAAAACTCACTGGAGTTTGACATGGTGGGAATTGACGCAGCCATTGCCAATGCTTTTCGACGAATTCTGCTAGCTGAGGTATTGGCAGGCATGGTGACAAGGCTGGAGTTGCTTTGGGAACTGCACTGACACCTCACTTGGAGAATTAAGTGTCTCAAGCTGTCCTTCCCTCCTTAATTTTCCTGGAATTTTGCTGAGCATTTTACCTTCTCATTCTTTGTAAATTTCTCATTAAACATTCTAGGAAGAGAGATAGCTCCCTACCTCTGGAGGTTGGGGTTACGGGGATAGGTAGGGGGTCTGTTGGGTTTTTGCAGATAAGTGGTTATTTTTCCTTGGGCAGGTGCCAACTATGGCTGTGGAGAAGGTCCTGGTGTACAATAATACATCCATTGTTCAGGATGAGATTCTTGCTCACCGTCTGGGGCTCATTCCCATTCATGCTGATCCCCGTCTTTTTGAGTATCGGAACCAAGGTGAGAAAATGAAATTTTGGGAGAAGTGGACTATCTGGGTTCAAATCCTGGTTGACTGTGATGTTGGGTAAGTTACTTATCTTTGTACATCAGTGTCTTTCATCTGTGAGAACACTTGCCTTGTCTCCCAAGTTTGCCATAATTAAATGGGAAACACGTAAAGCATTCAGCATAGTGCTGGCACTCAGACGTTTACTAGTTCTTAGGAGCTCCCTCCATTTGTGCAGGAGATGAAGAAGGCACAGAGATAGATACTCTACAGTTTCGTCTCCAGGTCAGATGCACTCGGAACCCCCATGCTGCTAAAGATTCCTCTGACCCCAACGAACTGTACGTGAACCACAAAGGTGAGTAGTGGTAGGGTGAGGAAGAGGCCCCACCTGTGGGTAGCTGCTAGTTTTAGGGACTGAGATCTTCTGACATGTTTTTCCTCCAGTGTATACCAGGCATATGACATGGATCCCCCTGGGGAACCAGGCTGATCTCTTTCCAGAGGGCACTATCCGACCAGTGCATGATGATATCCTCATCGCTCAGCTGCGGCCTGGCCAAGAAATTGACCTGCTCATGCACTGTGTCAAGGGCATTGGTGAGAACCCTGTGTGCCTTCCTGGGAAGGGGGATAGTTCGGTTGCAGTGGGGCAAGCTGACTAGGGAACTCAGCTGAGACATTCCCGGCAGGTAGAAAGCCAAGAGGGTTGTGCTTTTGCTGTTAGTAGCTTAGGAGGAGTATTCTTCCTAACCCTAGAAGGGTTTCCTATAGGCACGTTCCCTCTTCCTCTCCAGGCAAAGATCATGCCAAGTTTTCACCAGTGGCAACAGCCAGTTACAGGCTCCTGCCAGACATCACCCTGCTTGAGCCCGTGGAAGGGGAGGCAGCTGAGGAGTTGAGCAGGTGCTTCTCACCTGGTGTTATTGAGGTGCAGGAAGTCCAAGGTATGGTATTTGGGATGCTGTTCAAGTTAGGACCTAAATTATATTTTCTTTCAAGGTGACAGAAATAAAAACCCTGGGCTCCTAAAAGTATAACCTGGTTTGCTACCAAGTGGCAAATTAGAAAAAGGAATAAAAAAACATGGTTTGTTCTCATTAGGTAAAAAGGTGGCCAGAGTTGCCAACCCCCGGCTGGATACCTTCAGCAGAGAAATCTTCCGGAATGAGAAGCTAAAGAAGGTTGTGAGGCTTGCCCGGGTTCGAGATCATTATATCTGTGAGTATGAAGTGGTGAGATGAGTGGGCAGTGCTCTTTGGTGCTGCAGCTTCCTTCCAGTCTAGATGTGAAGTTTATGAGTAAGTTTTACAGGCAAGCCCTGCCTAGACTAAAGTGTCTCTTTGGTCCCCAGTCTCTGTTGAGTCAACGGGGGTGTTGCCACCAGATGTGCTGGTGAGTGAAGCCATCAAAGTACTGATGGGGAAGTGCCGGCGCTTCTTGGATGAACTAGATGCGGTTCAGATGGACTGAGCTTGGATGCTTCTGAGGCAAGCTGAAGCTTTGGGTTCTGACTGACCCACCCTACAGGACTGCTGAACAGAGAGCCCAGTGTGACTAGGGATCCTGAGTTTTCTGGGACAATTCCAGCTTTAATCAATACATTTTGTTAAATGTGCCATAAAATGAGACTTTTTACGCCTTTATAAGGCCTTAGATGTAAATAAACTCACCCAAACAAAAAAACTTTTTGAGACTACTTTTGAGTTTGTTTTTTGAGACAGTCTCACTGTGTTGCCCAGGCTGGAGTGCAGTGGTGCAATCTCAGCTCACTGCAGCTTCCTCCTGGGTTCAAGCAATTCTCAGGAGGCTGAGGCAAGAGTAGCTGATGCTACAGGCATGCACCACCACACCTAGCTATATGTCTAATTTTTTGTATTTTTAGTAGAGACAGGGTTTCACCATGTTGGTCAGGCTGGTGTCAAACTCCTGACCTCAAGTGATACGCCTGCCTTGGGGCCTCCCAAAGTGTTGGGATTACAGGTGTGA
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ATCTCAATTGAGCCTTGAATGGTAAGTAAAAAAGAACAGGAGTTAAATTATGAAGGGTTTGTTTCAAGTCAGTGAAGTTCAGGATATACAGGTTTTGTGTGTATTTAGTCTTTTGTATTGTTTCACTTAGCTTAAAATAAGGGTTAAAATTGCATTTAAATAGATTACTGAATGTTACCGTTTAGGCAACTGACCTTTGCGTGCAGCTTATAAACATGATCTGTAAATCAGTGCTTGGGAAAATTTTACTTTTTTAACCTGTTGATACAAGGAATAAAGTATGAACAATGAAAAAGGTTAATGCTTGAAAAAAAATTATGGCTTGTGTGAAGTGTGCTCCGGGCATGTCCAAGTAGTTCTGGCATGAGTGGTAGGCAAGGTTGAAGTGTGTCTTGGGCACTGTTGATGATAGGGAGATTGAATAGTTCTTAAGCAGACATGATGAGATTTGCAACCTTGGTGGCTGGGAGGGAATGAGTTTGAGGAGGATCATATGGAGCAGGCAGATCTGTTGTAAGGGAAGCTGAGGTTGAAGACATGAACTAAGACTGATGGTAGAAATAGAGCAAAGGTAGAATAGAAGGTAAATTTATGATTGCTTTGGTAAAGGCTGTGGGGGTAGCATAAAATGACTTTTTGGCTTGGGAACTGCTTTGATGCATTGTGGTATCATTTACTGAGAGGAGAAATGGGTCTGGGGAACGGGAATGATGATGCATTGTTTTCTGCATGTGGAGAAATCTAGCAGGCTAGAAGACTGCATGCTTGAAATGAGATCAGAAGTGAGATAACATTTTGGGAGTTGTCAGAACAGATAGTTGCTAAAACTGTTAGTACAGTTAAGGTGACCTGGGAGAGAGACAAGAACCTGGCAAATTTAGAGATGGGTGGAAGTCGATCATCAGAGAAGGAAGAAGAGTGGAGCTCAGAGCTCAGAAACCAGGGGAATAGTTCAAAAAAGGAGGAGATTTTTTTCTTTGCTTTTCATGAGGCACTCTTATGTCCCAGGCTGGAGTGCAGTGGCGCGATCTTGGCTCACTGCAACCTCCGCCTCCCGGGTTCAAGCAGTTCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGTCATGCGCCACTATGCCCAGCTAATTTTTTGTATTTTTGGTAGAGACGGGGTTTCACCATGCTGGCCAGGCTGGTCTCAAACTCCTGACCTTGTGATCTGCCCGTCTCAGCCTCCCAGAGTGCTGGGATTACAGGTGTGAGTGACTGTGCCGGGCCAGGAGGGGGTTTTTTAATCAATGCCAAGCATAACAGAAGTCTAGTAAGAGGACTGAGTAGTGTCAACAAAACTAAGCACTATGGTAGTTTCTGTTCTTCAGTAGAATAGCTTCTGTGGATGGTTTGGTTGGAAGCCATATTGCATAGGGTTTTAATGAATGGACGACAAAAATGGAGACTTTTCATGAAACTTAAAACACTGGGCGAGATAGAATATTTAATAAGAGACATTTGGGCAAAGGGAGGTTTTTGGATGAGAGGATAATACTTGAGGGAATTATCTAAGGGGGAGGTATGAAGAGATATTACACAGAGAGCAGATTTCACTTAAATGTTTTTTCCTGTCCCTCTAGAATTTCCGTGTGGATGTAGTACACATGGATGAAAACTCACTGGAGTTTGACATGGTGGGAATTGACGCAGCCATTGCCAATGCTTTTCGACGAATTCTGCTAGCTGAGGTATTGGCAGGCATGGTGACAAGGCTGGAGTTGCTTTGGGAACTGCACTGACACCTCACTTGGAGAATTAAGTGTCTCAAGCTGTCCTTCCCTCCTTAATTTTCCTGGAATTTTGCTGAGCATTTTACCTTCTCATTCTTTGTAAATTTCTCATTAAACATTCTAGGAAGAGAGATAGCTCCCTACCTCTGGAGGTTGGGGTTACGGGGATAGGTAGGGGGTCTGTTGGGTTTTTGCAGATAAGTGGTTATTTTTCCTTGGGCAGGTGCCAACTATGGCTGTGGAGAAGGTCCTGGTGTACAATAATACATCCATTGTTCAGGATGAGTTTCTTGCTCACCGTCTGGGGCTCATTCCCATTCATGCTGATCCCCGTCTTTTTGAGTATCGGAACCAAGGTGAGAAAATGAAATTTTGGGAGAAGTGGACTATCTGGGTTCAAATCCTGGTTGACTGTGATGTTGGGTAAGTTACTTATCTTTGTACATCAGTGTCTTTCATCTGTGAGAACACTTGCCTTGTCTCCCAAGTTTGCCATAATTAAATGGGAAACACGTAAAGCATTCAGCATAGTGCTGGCACTCAGACGTTTACTAGTTCTTAGGAGCTCCCTCCATTTGTGCAGGAGATGAAGAAGGCACAGAGATAGATACTCTACAGTTTCGTCTCCAGGTCAGATGCACTCGGAACCCCCATGCTGCTAAAGATTCCTCTGACCCCAACGAACTGTACGTGAACCACAAAGGTGAGTAGTGGTAGGGTGAGGAAGAGGCCCCACCTGTGGGTAGCTGCTAGTTTTAGGGACTGAGATCTTCTGACATGTTTTTCCTCCAGTGTATACCAGGCATATGACATGGATCCCCCTGGGGAACCAGGCTGATCTCTTTCCAGAGGGCACTATCCGACCAGTGCATGATGATATCCTCATCGCTCAGCTGCGGCCTGGCCAAGAAATTGACCTGCTCATGCACTGTGTCAAGGGCATTGGTGAGAACCCTGTGTGCCTTCCTGGGAAGGGGGATAGTTCGGTTGCAGTGGGGCAAGCTGACTAGGGAACTCAGCTGAGACATTCCCGGCAGGTAGAAAGCCAAGAGGGTTGTGCTTTTGCTGTTAGTAGCTTAGGAGGAGTATTCTTCCTAACCCTAGAAGGGTTTCCTATAGGCACGTTCCCTCTTCCTCTCCAGGCAAAGATCATGCCAAGTTTTCACCAGTGGCAACAGCCAGTTACAGGCTCCTGCCAGACATCACCCTGCTTGAGCCCGTGGAAGGGGAGGCAGCTGAGGAGTTGAGCAGGTGCTTCTCACCTGGTGTTATTGAGGTGCAGGAAGTCCAAGGTATGGTATTTGGGATGCTGTTCAAGTTAGGACCTAAATTATATTTTCTTTCAAGGTGACAGAAATAAAAACCCTGGGCTCCTAAAAGTATAACCTGGTTTGCTACCAAGTGGCAAATTAGAAAAAGGAATAAAAAAACATGGTTTGTTCTCATTAGGTAAAAAGGTGGCCAGAGTTGCCAACCCCCGGCTGGATACCTTCAGCAGAGAAATCTTCCGGAATGAGAAGCTAAAGAAGGTTGTGAGGCTTGCCCGGGTTCGAGATCATTATATCTGTGAGTATGAAGTGGTGAGATGAGTGGGCAGTGCTCTTTGGTGCTGCAGCTTCCTTCCAGTCTAGATGTGAAGTTTATGAGTAAGTTTTACAGGCAAGCCCTGCCTAGACTAAAGTGTCTCTTTGGTCCCCAGTCTCTGTTGAGTCAACGGGGGTGTTGCCACCAGATGTGCTGGTGAGTGAAGCCATCAAAGTACTGATGGGGAAGTGCCGGCGCTTCTTGGATGAACTAGATGCGGTTCAGATGGACTGAGCTTGGATGCTTCTGAGGCAAGCTGAAGCTTTGGGTTCTGACTGACCCACCCTACAGGACTGCTGAACAGAGAGCCCAGTGTGACTAGGGATCCTGAGTTTTCTGGGACAATTCCAGCTTTAATCAATACATTTTGTTAAATGTGCCATAAAATGAGACTTTTTACGCCTTTATAAGGCCTTAGATGTAAATAAACTCACCCAAACAAAAAAACTTTTTGAGACTACTTTTGAGTTTGTTTTTTGAGACAGTCTCACTGTGTTGCCCAGGCTGGAGTGCAGTGGTGCAATCTCAGCTCACTGCAGCTTCCTCCTGGGTTCAAGCAATTCTCAGGAGGCTGAGGCAAGAGTAGCTGATGCTACAGGCATGCACCACCACACCTAGCTATATGTCTAATTTTTTGTATTTTTAGTAGAGACAGGGTTTCACCATGTTGGTCAGGCTGGTGTCAAACTCCTGACCTCAAGTGATACGCCTGCCTTGGGGCCTCCCAAAGTGTTGGGATTACAGGTGTGA
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Task1_train_10378
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A mutation on Chromosome 6 affecting POLR1C (RNA polymerase I and III subunit C) has been found. Is it harmful or harmless? What disease, if any, does it cause?
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Pathogenic; Hypomyelinating leukodystrophy 11
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CAGGAGTTAAATTATGAAGGGTTTGTTTCAAGTCAGTGAAGTTCAGGATATACAGGTTTTGTGTGTATTTAGTCTTTTGTATTGTTTCACTTAGCTTAAAATAAGGGTTAAAATTGCATTTAAATAGATTACTGAATGTTACCGTTTAGGCAACTGACCTTTGCGTGCAGCTTATAAACATGATCTGTAAATCAGTGCTTGGGAAAATTTTACTTTTTTAACCTGTTGATACAAGGAATAAAGTATGAACAATGAAAAAGGTTAATGCTTGAAAAAAAATTATGGCTTGTGTGAAGTGTGCTCCGGGCATGTCCAAGTAGTTCTGGCATGAGTGGTAGGCAAGGTTGAAGTGTGTCTTGGGCACTGTTGATGATAGGGAGATTGAATAGTTCTTAAGCAGACATGATGAGATTTGCAACCTTGGTGGCTGGGAGGGAATGAGTTTGAGGAGGATCATATGGAGCAGGCAGATCTGTTGTAAGGGAAGCTGAGGTTGAAGACATGAACTAAGACTGATGGTAGAAATAGAGCAAAGGTAGAATAGAAGGTAAATTTATGATTGCTTTGGTAAAGGCTGTGGGGGTAGCATAAAATGACTTTTTGGCTTGGGAACTGCTTTGATGCATTGTGGTATCATTTACTGAGAGGAGAAATGGGTCTGGGGAACGGGAATGATGATGCATTGTTTTCTGCATGTGGAGAAATCTAGCAGGCTAGAAGACTGCATGCTTGAAATGAGATCAGAAGTGAGATAACATTTTGGGAGTTGTCAGAACAGATAGTTGCTAAAACTGTTAGTACAGTTAAGGTGACCTGGGAGAGAGACAAGAACCTGGCAAATTTAGAGATGGGTGGAAGTCGATCATCAGAGAAGGAAGAAGAGTGGAGCTCAGAGCTCAGAAACCAGGGGAATAGTTCAAAAAAGGAGGAGATTTTTTTCTTTGCTTTTCATGAGGCACTCTTATGTCCCAGGCTGGAGTGCAGTGGCGCGATCTTGGCTCACTGCAACCTCCGCCTCCCGGGTTCAAGCAGTTCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGTCATGCGCCACTATGCCCAGCTAATTTTTTGTATTTTTGGTAGAGACGGGGTTTCACCATGCTGGCCAGGCTGGTCTCAAACTCCTGACCTTGTGATCTGCCCGTCTCAGCCTCCCAGAGTGCTGGGATTACAGGTGTGAGTGACTGTGCCGGGCCAGGAGGGGGTTTTTTAATCAATGCCAAGCATAACAGAAGTCTAGTAAGAGGACTGAGTAGTGTCAACAAAACTAAGCACTATGGTAGTTTCTGTTCTTCAGTAGAATAGCTTCTGTGGATGGTTTGGTTGGAAGCCATATTGCATAGGGTTTTAATGAATGGACGACAAAAATGGAGACTTTTCATGAAACTTAAAACACTGGGCGAGATAGAATATTTAATAAGAGACATTTGGGCAAAGGGAGGTTTTTGGATGAGAGGATAATACTTGAGGGAATTATCTAAGGGGGAGGTATGAAGAGATATTACACAGAGAGCAGATTTCACTTAAATGTTTTTTCCTGTCCCTCTAGAATTTCCGTGTGGATGTAGTACACATGGATGAAAACTCACTGGAGTTTGACATGGTGGGAATTGACGCAGCCATTGCCAATGCTTTTCGACGAATTCTGCTAGCTGAGGTATTGGCAGGCATGGTGACAAGGCTGGAGTTGCTTTGGGAACTGCACTGACACCTCACTTGGAGAATTAAGTGTCTCAAGCTGTCCTTCCCTCCTTAATTTTCCTGGAATTTTGCTGAGCATTTTACCTTCTCATTCTTTGTAAATTTCTCATTAAACATTCTAGGAAGAGAGATAGCTCCCTACCTCTGGAGGTTGGGGTTACGGGGATAGGTAGGGGGTCTGTTGGGTTTTTGCAGATAAGTGGTTATTTTTCCTTGGGCAGGTGCCAACTATGGCTGTGGAGAAGGTCCTGGTGTACAATAATACATCCATTGTTCAGGATGAGATTCTTGCTCACCGTCTGGGGCTCATTCCCATTCATGCTGATCCCCGTCTTTTTGAGTATCGGAACCAAGGTGAGAAAATGAAATTTTGGGAGAAGTGGACTATCTGGGTTCAAATCCTGGTTGACTGTGATGTTGGGTAAGTTACTTATCTTTGTACATCAGTGTCTTTCATCTGTGAGAACACTTGCCTTGTCTCCCAAGTTTGCCATAATTAAATGGGAAACACGTAAAGCATTCAGCATAGTGCTGGCACTCAGACGTTTACTAGTTCTTAGGAGCTCCCTCCATTTGTGCAGGAGATGAAGAAGGCACAGAGATAGATACTCTACAGTTTCGTCTCCAGGTCAGATGCACTCGGAACCCCCATGCTGCTAAAGATTCCTCTGACCCCAACGAACTGTACGTGAACCACAAAGGTGAGTAGTGGTAGGGTGAGGAAGAGGCCCCACCTGTGGGTAGCTGCTAGTTTTAGGGACTGAGATCTTCTGACATGTTTTTCCTCCAGTGTATACCAGGCATATGACATGGATCCCCCTGGGGAACCAGGCTGATCTCTTTCCAGAGGGCACTATCCGACCAGTGCATGATGATATCCTCATCGCTCAGCTGCGGCCTGGCCAAGAAATTGACCTGCTCATGCACTGTGTCAAGGGCATTGGTGAGAACCCTGTGTGCCTTCCTGGGAAGGGGGATAGTTCGGTTGCAGTGGGGCAAGCTGACTAGGGAACTCAGCTGAGACATTCCCGGCAGGTAGAAAGCCAAGAGGGTTGTGCTTTTGCTGTTAGTAGCTTAGGAGGAGTATTCTTCCTAACCCTAGAAGGGTTTCCTATAGGCACGTTCCCTCTTCCTCTCCAGGCAAAGATCATGCCAAGTTTTCACCAGTGGCAACAGCCAGTTACAGGCTCCTGCCAGACATCACCCTGCTTGAGCCCGTGGAAGGGGAGGCAGCTGAGGAGTTGAGCAGGTGCTTCTCACCTGGTGTTATTGAGGTGCAGGAAGTCCAAGGTATGGTATTTGGGATGCTGTTCAAGTTAGGACCTAAATTATATTTTCTTTCAAGGTGACAGAAATAAAAACCCTGGGCTCCTAAAAGTATAACCTGGTTTGCTACCAAGTGGCAAATTAGAAAAAGGAATAAAAAAACATGGTTTGTTCTCATTAGGTAAAAAGGTGGCCAGAGTTGCCAACCCCCGGCTGGATACCTTCAGCAGAGAAATCTTCCGGAATGAGAAGCTAAAGAAGGTTGTGAGGCTTGCCCGGGTTCGAGATCATTATATCTGTGAGTATGAAGTGGTGAGATGAGTGGGCAGTGCTCTTTGGTGCTGCAGCTTCCTTCCAGTCTAGATGTGAAGTTTATGAGTAAGTTTTACAGGCAAGCCCTGCCTAGACTAAAGTGTCTCTTTGGTCCCCAGTCTCTGTTGAGTCAACGGGGGTGTTGCCACCAGATGTGCTGGTGAGTGAAGCCATCAAAGTACTGATGGGGAAGTGCCGGCGCTTCTTGGATGAACTAGATGCGGTTCAGATGGACTGAGCTTGGATGCTTCTGAGGCAAGCTGAAGCTTTGGGTTCTGACTGACCCACCCTACAGGACTGCTGAACAGAGAGCCCAGTGTGACTAGGGATCCTGAGTTTTCTGGGACAATTCCAGCTTTAATCAATACATTTTGTTAAATGTGCCATAAAATGAGACTTTTTACGCCTTTATAAGGCCTTAGATGTAAATAAACTCACCCAAACAAAAAAACTTTTTGAGACTACTTTTGAGTTTGTTTTTTGAGACAGTCTCACTGTGTTGCCCAGGCTGGAGTGCAGTGGTGCAATCTCAGCTCACTGCAGCTTCCTCCTGGGTTCAAGCAATTCTCAGGAGGCTGAGGCAAGAGTAGCTGATGCTACAGGCATGCACCACCACACCTAGCTATATGTCTAATTTTTTGTATTTTTAGTAGAGACAGGGTTTCACCATGTTGGTCAGGCTGGTGTCAAACTCCTGACCTCAAGTGATACGCCTGCCTTGGGGCCTCCCAAAGTGTTGGGATTACAGGTGTGAGCCACCGCGAAAAACAGGGGGCCTCACTTCAGAACT
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CAGGAGTTAAATTATGAAGGGTTTGTTTCAAGTCAGTGAAGTTCAGGATATACAGGTTTTGTGTGTATTTAGTCTTTTGTATTGTTTCACTTAGCTTAAAATAAGGGTTAAAATTGCATTTAAATAGATTACTGAATGTTACCGTTTAGGCAACTGACCTTTGCGTGCAGCTTATAAACATGATCTGTAAATCAGTGCTTGGGAAAATTTTACTTTTTTAACCTGTTGATACAAGGAATAAAGTATGAACAATGAAAAAGGTTAATGCTTGAAAAAAAATTATGGCTTGTGTGAAGTGTGCTCCGGGCATGTCCAAGTAGTTCTGGCATGAGTGGTAGGCAAGGTTGAAGTGTGTCTTGGGCACTGTTGATGATAGGGAGATTGAATAGTTCTTAAGCAGACATGATGAGATTTGCAACCTTGGTGGCTGGGAGGGAATGAGTTTGAGGAGGATCATATGGAGCAGGCAGATCTGTTGTAAGGGAAGCTGAGGTTGAAGACATGAACTAAGACTGATGGTAGAAATAGAGCAAAGGTAGAATAGAAGGTAAATTTATGATTGCTTTGGTAAAGGCTGTGGGGGTAGCATAAAATGACTTTTTGGCTTGGGAACTGCTTTGATGCATTGTGGTATCATTTACTGAGAGGAGAAATGGGTCTGGGGAACGGGAATGATGATGCATTGTTTTCTGCATGTGGAGAAATCTAGCAGGCTAGAAGACTGCATGCTTGAAATGAGATCAGAAGTGAGATAACATTTTGGGAGTTGTCAGAACAGATAGTTGCTAAAACTGTTAGTACAGTTAAGGTGACCTGGGAGAGAGACAAGAACCTGGCAAATTTAGAGATGGGTGGAAGTCGATCATCAGAGAAGGAAGAAGAGTGGAGCTCAGAGCTCAGAAACCAGGGGAATAGTTCAAAAAAGGAGGAGATTTTTTTCTTTGCTTTTCATGAGGCACTCTTATGTCCCAGGCTGGAGTGCAGTGGCGCGATCTTGGCTCACTGCAACCTCCGCCTCCCGGGTTCAAGCAGTTCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGTCATGCGCCACTATGCCCAGCTAATTTTTTGTATTTTTGGTAGAGACGGGGTTTCACCATGCTGGCCAGGCTGGTCTCAAACTCCTGACCTTGTGATCTGCCCGTCTCAGCCTCCCAGAGTGCTGGGATTACAGGTGTGAGTGACTGTGCCGGGCCAGGAGGGGGTTTTTTAATCAATGCCAAGCATAACAGAAGTCTAGTAAGAGGACTGAGTAGTGTCAACAAAACTAAGCACTATGGTAGTTTCTGTTCTTCAGTAGAATAGCTTCTGTGGATGGTTTGGTTGGAAGCCATATTGCATAGGGTTTTAATGAATGGACGACAAAAATGGAGACTTTTCATGAAACTTAAAACACTGGGCGAGATAGAATATTTAATAAGAGACATTTGGGCAAAGGGAGGTTTTTGGATGAGAGGATAATACTTGAGGGAATTATCTAAGGGGGAGGTATGAAGAGATATTACACAGAGAGCAGATTTCACTTAAATGTTTTTTCCTGTCCCTCTAGAATTTCCGTGTGGATGTAGTACACATGGATGAAAACTCACTGGAGTTTGACATGGTGGGAATTGACGCAGCCATTGCCAATGCTTTTCGACGAATTCTGCTAGCTGAGGTATTGGCAGGCATGGTGACAAGGCTGGAGTTGCTTTGGGAACTGCACTGACACCTCACTTGGAGAATTAAGTGTCTCAAGCTGTCCTTCCCTCCTTAATTTTCCTGGAATTTTGCTGAGCATTTTACCTTCTCATTCTTTGTAAATTTCTCATTAAACATTCTAGGAAGAGAGATAGCTCCCTACCTCTGGAGGTTGGGGTTACGGGGATAGGTAGGGGGTCTGTTGGGTTTTTGCAGATAAGTGGTTATTTTTCCTTGGGCAGGTGCCAACTATGGCTGTGGAGAAGGTCCTGGTGTACAATAATACATCCATTGTTCAGGATGAGATTCTTGCTCACCGTCTGGGGCTCATTCCCATTCATCCTGATCCCCGTCTTTTTGAGTATCGGAACCAAGGTGAGAAAATGAAATTTTGGGAGAAGTGGACTATCTGGGTTCAAATCCTGGTTGACTGTGATGTTGGGTAAGTTACTTATCTTTGTACATCAGTGTCTTTCATCTGTGAGAACACTTGCCTTGTCTCCCAAGTTTGCCATAATTAAATGGGAAACACGTAAAGCATTCAGCATAGTGCTGGCACTCAGACGTTTACTAGTTCTTAGGAGCTCCCTCCATTTGTGCAGGAGATGAAGAAGGCACAGAGATAGATACTCTACAGTTTCGTCTCCAGGTCAGATGCACTCGGAACCCCCATGCTGCTAAAGATTCCTCTGACCCCAACGAACTGTACGTGAACCACAAAGGTGAGTAGTGGTAGGGTGAGGAAGAGGCCCCACCTGTGGGTAGCTGCTAGTTTTAGGGACTGAGATCTTCTGACATGTTTTTCCTCCAGTGTATACCAGGCATATGACATGGATCCCCCTGGGGAACCAGGCTGATCTCTTTCCAGAGGGCACTATCCGACCAGTGCATGATGATATCCTCATCGCTCAGCTGCGGCCTGGCCAAGAAATTGACCTGCTCATGCACTGTGTCAAGGGCATTGGTGAGAACCCTGTGTGCCTTCCTGGGAAGGGGGATAGTTCGGTTGCAGTGGGGCAAGCTGACTAGGGAACTCAGCTGAGACATTCCCGGCAGGTAGAAAGCCAAGAGGGTTGTGCTTTTGCTGTTAGTAGCTTAGGAGGAGTATTCTTCCTAACCCTAGAAGGGTTTCCTATAGGCACGTTCCCTCTTCCTCTCCAGGCAAAGATCATGCCAAGTTTTCACCAGTGGCAACAGCCAGTTACAGGCTCCTGCCAGACATCACCCTGCTTGAGCCCGTGGAAGGGGAGGCAGCTGAGGAGTTGAGCAGGTGCTTCTCACCTGGTGTTATTGAGGTGCAGGAAGTCCAAGGTATGGTATTTGGGATGCTGTTCAAGTTAGGACCTAAATTATATTTTCTTTCAAGGTGACAGAAATAAAAACCCTGGGCTCCTAAAAGTATAACCTGGTTTGCTACCAAGTGGCAAATTAGAAAAAGGAATAAAAAAACATGGTTTGTTCTCATTAGGTAAAAAGGTGGCCAGAGTTGCCAACCCCCGGCTGGATACCTTCAGCAGAGAAATCTTCCGGAATGAGAAGCTAAAGAAGGTTGTGAGGCTTGCCCGGGTTCGAGATCATTATATCTGTGAGTATGAAGTGGTGAGATGAGTGGGCAGTGCTCTTTGGTGCTGCAGCTTCCTTCCAGTCTAGATGTGAAGTTTATGAGTAAGTTTTACAGGCAAGCCCTGCCTAGACTAAAGTGTCTCTTTGGTCCCCAGTCTCTGTTGAGTCAACGGGGGTGTTGCCACCAGATGTGCTGGTGAGTGAAGCCATCAAAGTACTGATGGGGAAGTGCCGGCGCTTCTTGGATGAACTAGATGCGGTTCAGATGGACTGAGCTTGGATGCTTCTGAGGCAAGCTGAAGCTTTGGGTTCTGACTGACCCACCCTACAGGACTGCTGAACAGAGAGCCCAGTGTGACTAGGGATCCTGAGTTTTCTGGGACAATTCCAGCTTTAATCAATACATTTTGTTAAATGTGCCATAAAATGAGACTTTTTACGCCTTTATAAGGCCTTAGATGTAAATAAACTCACCCAAACAAAAAAACTTTTTGAGACTACTTTTGAGTTTGTTTTTTGAGACAGTCTCACTGTGTTGCCCAGGCTGGAGTGCAGTGGTGCAATCTCAGCTCACTGCAGCTTCCTCCTGGGTTCAAGCAATTCTCAGGAGGCTGAGGCAAGAGTAGCTGATGCTACAGGCATGCACCACCACACCTAGCTATATGTCTAATTTTTTGTATTTTTAGTAGAGACAGGGTTTCACCATGTTGGTCAGGCTGGTGTCAAACTCCTGACCTCAAGTGATACGCCTGCCTTGGGGCCTCCCAAAGTGTTGGGATTACAGGTGTGAGCCACCGCGAAAAACAGGGGGCCTCACTTCAGAACT
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Task1_train_10379
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Gene POLR1C (RNA polymerase I and III subunit C), found on Chromosome 6, is impacted by this variant. What is the biological outcome — benign or pathogenic?
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Pathogenic; Hypomyelinating leukodystrophy 11
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AAGTAGTTCTGGCATGAGTGGTAGGCAAGGTTGAAGTGTGTCTTGGGCACTGTTGATGATAGGGAGATTGAATAGTTCTTAAGCAGACATGATGAGATTTGCAACCTTGGTGGCTGGGAGGGAATGAGTTTGAGGAGGATCATATGGAGCAGGCAGATCTGTTGTAAGGGAAGCTGAGGTTGAAGACATGAACTAAGACTGATGGTAGAAATAGAGCAAAGGTAGAATAGAAGGTAAATTTATGATTGCTTTGGTAAAGGCTGTGGGGGTAGCATAAAATGACTTTTTGGCTTGGGAACTGCTTTGATGCATTGTGGTATCATTTACTGAGAGGAGAAATGGGTCTGGGGAACGGGAATGATGATGCATTGTTTTCTGCATGTGGAGAAATCTAGCAGGCTAGAAGACTGCATGCTTGAAATGAGATCAGAAGTGAGATAACATTTTGGGAGTTGTCAGAACAGATAGTTGCTAAAACTGTTAGTACAGTTAAGGTGACCTGGGAGAGAGACAAGAACCTGGCAAATTTAGAGATGGGTGGAAGTCGATCATCAGAGAAGGAAGAAGAGTGGAGCTCAGAGCTCAGAAACCAGGGGAATAGTTCAAAAAAGGAGGAGATTTTTTTCTTTGCTTTTCATGAGGCACTCTTATGTCCCAGGCTGGAGTGCAGTGGCGCGATCTTGGCTCACTGCAACCTCCGCCTCCCGGGTTCAAGCAGTTCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGTCATGCGCCACTATGCCCAGCTAATTTTTTGTATTTTTGGTAGAGACGGGGTTTCACCATGCTGGCCAGGCTGGTCTCAAACTCCTGACCTTGTGATCTGCCCGTCTCAGCCTCCCAGAGTGCTGGGATTACAGGTGTGAGTGACTGTGCCGGGCCAGGAGGGGGTTTTTTAATCAATGCCAAGCATAACAGAAGTCTAGTAAGAGGACTGAGTAGTGTCAACAAAACTAAGCACTATGGTAGTTTCTGTTCTTCAGTAGAATAGCTTCTGTGGATGGTTTGGTTGGAAGCCATATTGCATAGGGTTTTAATGAATGGACGACAAAAATGGAGACTTTTCATGAAACTTAAAACACTGGGCGAGATAGAATATTTAATAAGAGACATTTGGGCAAAGGGAGGTTTTTGGATGAGAGGATAATACTTGAGGGAATTATCTAAGGGGGAGGTATGAAGAGATATTACACAGAGAGCAGATTTCACTTAAATGTTTTTTCCTGTCCCTCTAGAATTTCCGTGTGGATGTAGTACACATGGATGAAAACTCACTGGAGTTTGACATGGTGGGAATTGACGCAGCCATTGCCAATGCTTTTCGACGAATTCTGCTAGCTGAGGTATTGGCAGGCATGGTGACAAGGCTGGAGTTGCTTTGGGAACTGCACTGACACCTCACTTGGAGAATTAAGTGTCTCAAGCTGTCCTTCCCTCCTTAATTTTCCTGGAATTTTGCTGAGCATTTTACCTTCTCATTCTTTGTAAATTTCTCATTAAACATTCTAGGAAGAGAGATAGCTCCCTACCTCTGGAGGTTGGGGTTACGGGGATAGGTAGGGGGTCTGTTGGGTTTTTGCAGATAAGTGGTTATTTTTCCTTGGGCAGGTGCCAACTATGGCTGTGGAGAAGGTCCTGGTGTACAATAATACATCCATTGTTCAGGATGAGATTCTTGCTCACCGTCTGGGGCTCATTCCCATTCATGCTGATCCCCGTCTTTTTGAGTATCGGAACCAAGGTGAGAAAATGAAATTTTGGGAGAAGTGGACTATCTGGGTTCAAATCCTGGTTGACTGTGATGTTGGGTAAGTTACTTATCTTTGTACATCAGTGTCTTTCATCTGTGAGAACACTTGCCTTGTCTCCCAAGTTTGCCATAATTAAATGGGAAACACGTAAAGCATTCAGCATAGTGCTGGCACTCAGACGTTTACTAGTTCTTAGGAGCTCCCTCCATTTGTGCAGGAGATGAAGAAGGCACAGAGATAGATACTCTACAGTTTCGTCTCCAGGTCAGATGCACTCGGAACCCCCATGCTGCTAAAGATTCCTCTGACCCCAACGAACTGTACGTGAACCACAAAGGTGAGTAGTGGTAGGGTGAGGAAGAGGCCCCACCTGTGGGTAGCTGCTAGTTTTAGGGACTGAGATCTTCTGACATGTTTTTCCTCCAGTGTATACCAGGCATATGACATGGATCCCCCTGGGGAACCAGGCTGATCTCTTTCCAGAGGGCACTATCCGACCAGTGCATGATGATATCCTCATCGCTCAGCTGCGGCCTGGCCAAGAAATTGACCTGCTCATGCACTGTGTCAAGGGCATTGGTGAGAACCCTGTGTGCCTTCCTGGGAAGGGGGATAGTTCGGTTGCAGTGGGGCAAGCTGACTAGGGAACTCAGCTGAGACATTCCCGGCAGGTAGAAAGCCAAGAGGGTTGTGCTTTTGCTGTTAGTAGCTTAGGAGGAGTATTCTTCCTAACCCTAGAAGGGTTTCCTATAGGCACGTTCCCTCTTCCTCTCCAGGCAAAGATCATGCCAAGTTTTCACCAGTGGCAACAGCCAGTTACAGGCTCCTGCCAGACATCACCCTGCTTGAGCCCGTGGAAGGGGAGGCAGCTGAGGAGTTGAGCAGGTGCTTCTCACCTGGTGTTATTGAGGTGCAGGAAGTCCAAGGTATGGTATTTGGGATGCTGTTCAAGTTAGGACCTAAATTATATTTTCTTTCAAGGTGACAGAAATAAAAACCCTGGGCTCCTAAAAGTATAACCTGGTTTGCTACCAAGTGGCAAATTAGAAAAAGGAATAAAAAAACATGGTTTGTTCTCATTAGGTAAAAAGGTGGCCAGAGTTGCCAACCCCCGGCTGGATACCTTCAGCAGAGAAATCTTCCGGAATGAGAAGCTAAAGAAGGTTGTGAGGCTTGCCCGGGTTCGAGATCATTATATCTGTGAGTATGAAGTGGTGAGATGAGTGGGCAGTGCTCTTTGGTGCTGCAGCTTCCTTCCAGTCTAGATGTGAAGTTTATGAGTAAGTTTTACAGGCAAGCCCTGCCTAGACTAAAGTGTCTCTTTGGTCCCCAGTCTCTGTTGAGTCAACGGGGGTGTTGCCACCAGATGTGCTGGTGAGTGAAGCCATCAAAGTACTGATGGGGAAGTGCCGGCGCTTCTTGGATGAACTAGATGCGGTTCAGATGGACTGAGCTTGGATGCTTCTGAGGCAAGCTGAAGCTTTGGGTTCTGACTGACCCACCCTACAGGACTGCTGAACAGAGAGCCCAGTGTGACTAGGGATCCTGAGTTTTCTGGGACAATTCCAGCTTTAATCAATACATTTTGTTAAATGTGCCATAAAATGAGACTTTTTACGCCTTTATAAGGCCTTAGATGTAAATAAACTCACCCAAACAAAAAAACTTTTTGAGACTACTTTTGAGTTTGTTTTTTGAGACAGTCTCACTGTGTTGCCCAGGCTGGAGTGCAGTGGTGCAATCTCAGCTCACTGCAGCTTCCTCCTGGGTTCAAGCAATTCTCAGGAGGCTGAGGCAAGAGTAGCTGATGCTACAGGCATGCACCACCACACCTAGCTATATGTCTAATTTTTTGTATTTTTAGTAGAGACAGGGTTTCACCATGTTGGTCAGGCTGGTGTCAAACTCCTGACCTCAAGTGATACGCCTGCCTTGGGGCCTCCCAAAGTGTTGGGATTACAGGTGTGAGCCACCGCGAAAAACAGGGGGCCTCACTTCAGAACTGGTTTAGCATTTACCAATTAAGAACATCAGATGTGCACTCCAGCCCGGGTAACAGTGAGACCCTGTTTCAAAAACAACAGAAAGAACACCTCCTGAGAATTGGCAAATTAAGGTGGTTTCTGGGAGCACAGCCAAACCCTAGAAAAACATTCAAGCTAGAGTGAATGTGCCACTTCACCTATCTCCTGGTTTACCAGGGAAGTTCATGTTGCTATTGACAGCTCCAACAAAGAACAGTAGCAATTCCTGTGGGCCAGGCCCAGCAGCCACACACGAAAGACACTGTGAGAATGGTATGGGCTGCCTAGTCTGGG
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AAGTAGTTCTGGCATGAGTGGTAGGCAAGGTTGAAGTGTGTCTTGGGCACTGTTGATGATAGGGAGATTGAATAGTTCTTAAGCAGACATGATGAGATTTGCAACCTTGGTGGCTGGGAGGGAATGAGTTTGAGGAGGATCATATGGAGCAGGCAGATCTGTTGTAAGGGAAGCTGAGGTTGAAGACATGAACTAAGACTGATGGTAGAAATAGAGCAAAGGTAGAATAGAAGGTAAATTTATGATTGCTTTGGTAAAGGCTGTGGGGGTAGCATAAAATGACTTTTTGGCTTGGGAACTGCTTTGATGCATTGTGGTATCATTTACTGAGAGGAGAAATGGGTCTGGGGAACGGGAATGATGATGCATTGTTTTCTGCATGTGGAGAAATCTAGCAGGCTAGAAGACTGCATGCTTGAAATGAGATCAGAAGTGAGATAACATTTTGGGAGTTGTCAGAACAGATAGTTGCTAAAACTGTTAGTACAGTTAAGGTGACCTGGGAGAGAGACAAGAACCTGGCAAATTTAGAGATGGGTGGAAGTCGATCATCAGAGAAGGAAGAAGAGTGGAGCTCAGAGCTCAGAAACCAGGGGAATAGTTCAAAAAAGGAGGAGATTTTTTTCTTTGCTTTTCATGAGGCACTCTTATGTCCCAGGCTGGAGTGCAGTGGCGCGATCTTGGCTCACTGCAACCTCCGCCTCCCGGGTTCAAGCAGTTCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGTCATGCGCCACTATGCCCAGCTAATTTTTTGTATTTTTGGTAGAGACGGGGTTTCACCATGCTGGCCAGGCTGGTCTCAAACTCCTGACCTTGTGATCTGCCCGTCTCAGCCTCCCAGAGTGCTGGGATTACAGGTGTGAGTGACTGTGCCGGGCCAGGAGGGGGTTTTTTAATCAATGCCAAGCATAACAGAAGTCTAGTAAGAGGACTGAGTAGTGTCAACAAAACTAAGCACTATGGTAGTTTCTGTTCTTCAGTAGAATAGCTTCTGTGGATGGTTTGGTTGGAAGCCATATTGCATAGGGTTTTAATGAATGGACGACAAAAATGGAGACTTTTCATGAAACTTAAAACACTGGGCGAGATAGAATATTTAATAAGAGACATTTGGGCAAAGGGAGGTTTTTGGATGAGAGGATAATACTTGAGGGAATTATCTAAGGGGGAGGTATGAAGAGATATTACACAGAGAGCAGATTTCACTTAAATGTTTTTTCCTGTCCCTCTAGAATTTCCGTGTGGATGTAGTACACATGGATGAAAACTCACTGGAGTTTGACATGGTGGGAATTGACGCAGCCATTGCCAATGCTTTTCGACGAATTCTGCTAGCTGAGGTATTGGCAGGCATGGTGACAAGGCTGGAGTTGCTTTGGGAACTGCACTGACACCTCACTTGGAGAATTAAGTGTCTCAAGCTGTCCTTCCCTCCTTAATTTTCCTGGAATTTTGCTGAGCATTTTACCTTCTCATTCTTTGTAAATTTCTCATTAAACATTCTAGGAAGAGAGATAGCTCCCTACCTCTGGAGGTTGGGGTTACGGGGATAGGTAGGGGGTCTGTTGGGTTTTTGCAGATAAGTGGTTATTTTTCCTTGGGCAGGTGCCAACTATGGCTGTGGAGAAGGTCCTGGTGTACAATAATACATCCATTGTTCAGGATGAGATTCTTGCTCACCGTCTGGGGCTCATTCCCATTCATGCTGATCCCCGTCTTTTTGAGTATCGGAACCAAGGTGAGAAAATGAAATTTTGGGAGAAGTGGACTATCTGGGTTCAAATCCTGGTTGACTGTGATGTTGGGTAAGTTACTTATCTTTGTACATCAGTGTCTTTCATCTGTGAGAACACTTGCCTTGTCTCCCAAGTTTGCCATAATTAAATGGGAAACACGTAAAGCATTCAGCATAGTGCTGGCACTCAGACGTTTACTAGTTCTTAGGAGCTCCCTCCATTTGTGCAGGAGATGAAGAAGGCACAGAGATAGATACTCTACAGTTTCGTCTCCAGGTCAGACGCACTCGGAACCCCCATGCTGCTAAAGATTCCTCTGACCCCAACGAACTGTACGTGAACCACAAAGGTGAGTAGTGGTAGGGTGAGGAAGAGGCCCCACCTGTGGGTAGCTGCTAGTTTTAGGGACTGAGATCTTCTGACATGTTTTTCCTCCAGTGTATACCAGGCATATGACATGGATCCCCCTGGGGAACCAGGCTGATCTCTTTCCAGAGGGCACTATCCGACCAGTGCATGATGATATCCTCATCGCTCAGCTGCGGCCTGGCCAAGAAATTGACCTGCTCATGCACTGTGTCAAGGGCATTGGTGAGAACCCTGTGTGCCTTCCTGGGAAGGGGGATAGTTCGGTTGCAGTGGGGCAAGCTGACTAGGGAACTCAGCTGAGACATTCCCGGCAGGTAGAAAGCCAAGAGGGTTGTGCTTTTGCTGTTAGTAGCTTAGGAGGAGTATTCTTCCTAACCCTAGAAGGGTTTCCTATAGGCACGTTCCCTCTTCCTCTCCAGGCAAAGATCATGCCAAGTTTTCACCAGTGGCAACAGCCAGTTACAGGCTCCTGCCAGACATCACCCTGCTTGAGCCCGTGGAAGGGGAGGCAGCTGAGGAGTTGAGCAGGTGCTTCTCACCTGGTGTTATTGAGGTGCAGGAAGTCCAAGGTATGGTATTTGGGATGCTGTTCAAGTTAGGACCTAAATTATATTTTCTTTCAAGGTGACAGAAATAAAAACCCTGGGCTCCTAAAAGTATAACCTGGTTTGCTACCAAGTGGCAAATTAGAAAAAGGAATAAAAAAACATGGTTTGTTCTCATTAGGTAAAAAGGTGGCCAGAGTTGCCAACCCCCGGCTGGATACCTTCAGCAGAGAAATCTTCCGGAATGAGAAGCTAAAGAAGGTTGTGAGGCTTGCCCGGGTTCGAGATCATTATATCTGTGAGTATGAAGTGGTGAGATGAGTGGGCAGTGCTCTTTGGTGCTGCAGCTTCCTTCCAGTCTAGATGTGAAGTTTATGAGTAAGTTTTACAGGCAAGCCCTGCCTAGACTAAAGTGTCTCTTTGGTCCCCAGTCTCTGTTGAGTCAACGGGGGTGTTGCCACCAGATGTGCTGGTGAGTGAAGCCATCAAAGTACTGATGGGGAAGTGCCGGCGCTTCTTGGATGAACTAGATGCGGTTCAGATGGACTGAGCTTGGATGCTTCTGAGGCAAGCTGAAGCTTTGGGTTCTGACTGACCCACCCTACAGGACTGCTGAACAGAGAGCCCAGTGTGACTAGGGATCCTGAGTTTTCTGGGACAATTCCAGCTTTAATCAATACATTTTGTTAAATGTGCCATAAAATGAGACTTTTTACGCCTTTATAAGGCCTTAGATGTAAATAAACTCACCCAAACAAAAAAACTTTTTGAGACTACTTTTGAGTTTGTTTTTTGAGACAGTCTCACTGTGTTGCCCAGGCTGGAGTGCAGTGGTGCAATCTCAGCTCACTGCAGCTTCCTCCTGGGTTCAAGCAATTCTCAGGAGGCTGAGGCAAGAGTAGCTGATGCTACAGGCATGCACCACCACACCTAGCTATATGTCTAATTTTTTGTATTTTTAGTAGAGACAGGGTTTCACCATGTTGGTCAGGCTGGTGTCAAACTCCTGACCTCAAGTGATACGCCTGCCTTGGGGCCTCCCAAAGTGTTGGGATTACAGGTGTGAGCCACCGCGAAAAACAGGGGGCCTCACTTCAGAACTGGTTTAGCATTTACCAATTAAGAACATCAGATGTGCACTCCAGCCCGGGTAACAGTGAGACCCTGTTTCAAAAACAACAGAAAGAACACCTCCTGAGAATTGGCAAATTAAGGTGGTTTCTGGGAGCACAGCCAAACCCTAGAAAAACATTCAAGCTAGAGTGAATGTGCCACTTCACCTATCTCCTGGTTTACCAGGGAAGTTCATGTTGCTATTGACAGCTCCAACAAAGAACAGTAGCAATTCCTGTGGGCCAGGCCCAGCAGCCACACACGAAAGACACTGTGAGAATGGTATGGGCTGCCTAGTCTGGG
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Task1_train_10380
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Given this context: Chromosome 6, gene POLR1C (RNA polymerase I and III subunit C) — does this variant present pathogenic behavior, and if so, what disease does it relate to?
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Pathogenic; Hypomyelinating leukodystrophy 11
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ATTGAATAGTTCTTAAGCAGACATGATGAGATTTGCAACCTTGGTGGCTGGGAGGGAATGAGTTTGAGGAGGATCATATGGAGCAGGCAGATCTGTTGTAAGGGAAGCTGAGGTTGAAGACATGAACTAAGACTGATGGTAGAAATAGAGCAAAGGTAGAATAGAAGGTAAATTTATGATTGCTTTGGTAAAGGCTGTGGGGGTAGCATAAAATGACTTTTTGGCTTGGGAACTGCTTTGATGCATTGTGGTATCATTTACTGAGAGGAGAAATGGGTCTGGGGAACGGGAATGATGATGCATTGTTTTCTGCATGTGGAGAAATCTAGCAGGCTAGAAGACTGCATGCTTGAAATGAGATCAGAAGTGAGATAACATTTTGGGAGTTGTCAGAACAGATAGTTGCTAAAACTGTTAGTACAGTTAAGGTGACCTGGGAGAGAGACAAGAACCTGGCAAATTTAGAGATGGGTGGAAGTCGATCATCAGAGAAGGAAGAAGAGTGGAGCTCAGAGCTCAGAAACCAGGGGAATAGTTCAAAAAAGGAGGAGATTTTTTTCTTTGCTTTTCATGAGGCACTCTTATGTCCCAGGCTGGAGTGCAGTGGCGCGATCTTGGCTCACTGCAACCTCCGCCTCCCGGGTTCAAGCAGTTCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGTCATGCGCCACTATGCCCAGCTAATTTTTTGTATTTTTGGTAGAGACGGGGTTTCACCATGCTGGCCAGGCTGGTCTCAAACTCCTGACCTTGTGATCTGCCCGTCTCAGCCTCCCAGAGTGCTGGGATTACAGGTGTGAGTGACTGTGCCGGGCCAGGAGGGGGTTTTTTAATCAATGCCAAGCATAACAGAAGTCTAGTAAGAGGACTGAGTAGTGTCAACAAAACTAAGCACTATGGTAGTTTCTGTTCTTCAGTAGAATAGCTTCTGTGGATGGTTTGGTTGGAAGCCATATTGCATAGGGTTTTAATGAATGGACGACAAAAATGGAGACTTTTCATGAAACTTAAAACACTGGGCGAGATAGAATATTTAATAAGAGACATTTGGGCAAAGGGAGGTTTTTGGATGAGAGGATAATACTTGAGGGAATTATCTAAGGGGGAGGTATGAAGAGATATTACACAGAGAGCAGATTTCACTTAAATGTTTTTTCCTGTCCCTCTAGAATTTCCGTGTGGATGTAGTACACATGGATGAAAACTCACTGGAGTTTGACATGGTGGGAATTGACGCAGCCATTGCCAATGCTTTTCGACGAATTCTGCTAGCTGAGGTATTGGCAGGCATGGTGACAAGGCTGGAGTTGCTTTGGGAACTGCACTGACACCTCACTTGGAGAATTAAGTGTCTCAAGCTGTCCTTCCCTCCTTAATTTTCCTGGAATTTTGCTGAGCATTTTACCTTCTCATTCTTTGTAAATTTCTCATTAAACATTCTAGGAAGAGAGATAGCTCCCTACCTCTGGAGGTTGGGGTTACGGGGATAGGTAGGGGGTCTGTTGGGTTTTTGCAGATAAGTGGTTATTTTTCCTTGGGCAGGTGCCAACTATGGCTGTGGAGAAGGTCCTGGTGTACAATAATACATCCATTGTTCAGGATGAGATTCTTGCTCACCGTCTGGGGCTCATTCCCATTCATGCTGATCCCCGTCTTTTTGAGTATCGGAACCAAGGTGAGAAAATGAAATTTTGGGAGAAGTGGACTATCTGGGTTCAAATCCTGGTTGACTGTGATGTTGGGTAAGTTACTTATCTTTGTACATCAGTGTCTTTCATCTGTGAGAACACTTGCCTTGTCTCCCAAGTTTGCCATAATTAAATGGGAAACACGTAAAGCATTCAGCATAGTGCTGGCACTCAGACGTTTACTAGTTCTTAGGAGCTCCCTCCATTTGTGCAGGAGATGAAGAAGGCACAGAGATAGATACTCTACAGTTTCGTCTCCAGGTCAGATGCACTCGGAACCCCCATGCTGCTAAAGATTCCTCTGACCCCAACGAACTGTACGTGAACCACAAAGGTGAGTAGTGGTAGGGTGAGGAAGAGGCCCCACCTGTGGGTAGCTGCTAGTTTTAGGGACTGAGATCTTCTGACATGTTTTTCCTCCAGTGTATACCAGGCATATGACATGGATCCCCCTGGGGAACCAGGCTGATCTCTTTCCAGAGGGCACTATCCGACCAGTGCATGATGATATCCTCATCGCTCAGCTGCGGCCTGGCCAAGAAATTGACCTGCTCATGCACTGTGTCAAGGGCATTGGTGAGAACCCTGTGTGCCTTCCTGGGAAGGGGGATAGTTCGGTTGCAGTGGGGCAAGCTGACTAGGGAACTCAGCTGAGACATTCCCGGCAGGTAGAAAGCCAAGAGGGTTGTGCTTTTGCTGTTAGTAGCTTAGGAGGAGTATTCTTCCTAACCCTAGAAGGGTTTCCTATAGGCACGTTCCCTCTTCCTCTCCAGGCAAAGATCATGCCAAGTTTTCACCAGTGGCAACAGCCAGTTACAGGCTCCTGCCAGACATCACCCTGCTTGAGCCCGTGGAAGGGGAGGCAGCTGAGGAGTTGAGCAGGTGCTTCTCACCTGGTGTTATTGAGGTGCAGGAAGTCCAAGGTATGGTATTTGGGATGCTGTTCAAGTTAGGACCTAAATTATATTTTCTTTCAAGGTGACAGAAATAAAAACCCTGGGCTCCTAAAAGTATAACCTGGTTTGCTACCAAGTGGCAAATTAGAAAAAGGAATAAAAAAACATGGTTTGTTCTCATTAGGTAAAAAGGTGGCCAGAGTTGCCAACCCCCGGCTGGATACCTTCAGCAGAGAAATCTTCCGGAATGAGAAGCTAAAGAAGGTTGTGAGGCTTGCCCGGGTTCGAGATCATTATATCTGTGAGTATGAAGTGGTGAGATGAGTGGGCAGTGCTCTTTGGTGCTGCAGCTTCCTTCCAGTCTAGATGTGAAGTTTATGAGTAAGTTTTACAGGCAAGCCCTGCCTAGACTAAAGTGTCTCTTTGGTCCCCAGTCTCTGTTGAGTCAACGGGGGTGTTGCCACCAGATGTGCTGGTGAGTGAAGCCATCAAAGTACTGATGGGGAAGTGCCGGCGCTTCTTGGATGAACTAGATGCGGTTCAGATGGACTGAGCTTGGATGCTTCTGAGGCAAGCTGAAGCTTTGGGTTCTGACTGACCCACCCTACAGGACTGCTGAACAGAGAGCCCAGTGTGACTAGGGATCCTGAGTTTTCTGGGACAATTCCAGCTTTAATCAATACATTTTGTTAAATGTGCCATAAAATGAGACTTTTTACGCCTTTATAAGGCCTTAGATGTAAATAAACTCACCCAAACAAAAAAACTTTTTGAGACTACTTTTGAGTTTGTTTTTTGAGACAGTCTCACTGTGTTGCCCAGGCTGGAGTGCAGTGGTGCAATCTCAGCTCACTGCAGCTTCCTCCTGGGTTCAAGCAATTCTCAGGAGGCTGAGGCAAGAGTAGCTGATGCTACAGGCATGCACCACCACACCTAGCTATATGTCTAATTTTTTGTATTTTTAGTAGAGACAGGGTTTCACCATGTTGGTCAGGCTGGTGTCAAACTCCTGACCTCAAGTGATACGCCTGCCTTGGGGCCTCCCAAAGTGTTGGGATTACAGGTGTGAGCCACCGCGAAAAACAGGGGGCCTCACTTCAGAACTGGTTTAGCATTTACCAATTAAGAACATCAGATGTGCACTCCAGCCCGGGTAACAGTGAGACCCTGTTTCAAAAACAACAGAAAGAACACCTCCTGAGAATTGGCAAATTAAGGTGGTTTCTGGGAGCACAGCCAAACCCTAGAAAAACATTCAAGCTAGAGTGAATGTGCCACTTCACCTATCTCCTGGTTTACCAGGGAAGTTCATGTTGCTATTGACAGCTCCAACAAAGAACAGTAGCAATTCCTGTGGGCCAGGCCCAGCAGCCACACACGAAAGACACTGTGAGAATGGTATGGGCTGCCTAGTCTGGGTATGTCAGGAATAGAAATCCTTTTCTAACTGGCACACCATTTCAGAAAGCTTGAAAGACCAGAATC
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ATTGAATAGTTCTTAAGCAGACATGATGAGATTTGCAACCTTGGTGGCTGGGAGGGAATGAGTTTGAGGAGGATCATATGGAGCAGGCAGATCTGTTGTAAGGGAAGCTGAGGTTGAAGACATGAACTAAGACTGATGGTAGAAATAGAGCAAAGGTAGAATAGAAGGTAAATTTATGATTGCTTTGGTAAAGGCTGTGGGGGTAGCATAAAATGACTTTTTGGCTTGGGAACTGCTTTGATGCATTGTGGTATCATTTACTGAGAGGAGAAATGGGTCTGGGGAACGGGAATGATGATGCATTGTTTTCTGCATGTGGAGAAATCTAGCAGGCTAGAAGACTGCATGCTTGAAATGAGATCAGAAGTGAGATAACATTTTGGGAGTTGTCAGAACAGATAGTTGCTAAAACTGTTAGTACAGTTAAGGTGACCTGGGAGAGAGACAAGAACCTGGCAAATTTAGAGATGGGTGGAAGTCGATCATCAGAGAAGGAAGAAGAGTGGAGCTCAGAGCTCAGAAACCAGGGGAATAGTTCAAAAAAGGAGGAGATTTTTTTCTTTGCTTTTCATGAGGCACTCTTATGTCCCAGGCTGGAGTGCAGTGGCGCGATCTTGGCTCACTGCAACCTCCGCCTCCCGGGTTCAAGCAGTTCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGTCATGCGCCACTATGCCCAGCTAATTTTTTGTATTTTTGGTAGAGACGGGGTTTCACCATGCTGGCCAGGCTGGTCTCAAACTCCTGACCTTGTGATCTGCCCGTCTCAGCCTCCCAGAGTGCTGGGATTACAGGTGTGAGTGACTGTGCCGGGCCAGGAGGGGGTTTTTTAATCAATGCCAAGCATAACAGAAGTCTAGTAAGAGGACTGAGTAGTGTCAACAAAACTAAGCACTATGGTAGTTTCTGTTCTTCAGTAGAATAGCTTCTGTGGATGGTTTGGTTGGAAGCCATATTGCATAGGGTTTTAATGAATGGACGACAAAAATGGAGACTTTTCATGAAACTTAAAACACTGGGCGAGATAGAATATTTAATAAGAGACATTTGGGCAAAGGGAGGTTTTTGGATGAGAGGATAATACTTGAGGGAATTATCTAAGGGGGAGGTATGAAGAGATATTACACAGAGAGCAGATTTCACTTAAATGTTTTTTCCTGTCCCTCTAGAATTTCCGTGTGGATGTAGTACACATGGATGAAAACTCACTGGAGTTTGACATGGTGGGAATTGACGCAGCCATTGCCAATGCTTTTCGACGAATTCTGCTAGCTGAGGTATTGGCAGGCATGGTGACAAGGCTGGAGTTGCTTTGGGAACTGCACTGACACCTCACTTGGAGAATTAAGTGTCTCAAGCTGTCCTTCCCTCCTTAATTTTCCTGGAATTTTGCTGAGCATTTTACCTTCTCATTCTTTGTAAATTTCTCATTAAACATTCTAGGAAGAGAGATAGCTCCCTACCTCTGGAGGTTGGGGTTACGGGGATAGGTAGGGGGTCTGTTGGGTTTTTGCAGATAAGTGGTTATTTTTCCTTGGGCAGGTGCCAACTATGGCTGTGGAGAAGGTCCTGGTGTACAATAATACATCCATTGTTCAGGATGAGATTCTTGCTCACCGTCTGGGGCTCATTCCCATTCATGCTGATCCCCGTCTTTTTGAGTATCGGAACCAAGGTGAGAAAATGAAATTTTGGGAGAAGTGGACTATCTGGGTTCAAATCCTGGTTGACTGTGATGTTGGGTAAGTTACTTATCTTTGTACATCAGTGTCTTTCATCTGTGAGAACACTTGCCTTGTCTCCCAAGTTTGCCATAATTAAATGGGAAACACGTAAAGCATTCAGCATAGTGCTGGCACTCAGACGTTTACTAGTTCTTAGGAGCTCCCTCCATTTGTGCAGGAGATGAAGAAGGCACAGAGATAGATACTCTACAGTTTCGTCTCCAGGTCAGATGCACTCGGAACCCCCATGCTGCTAAAGATTCCTCTGACCCCAACGAACTGTACGTGAACCACAAAAGTGAGTAGTGGTAGGGTGAGGAAGAGGCCCCACCTGTGGGTAGCTGCTAGTTTTAGGGACTGAGATCTTCTGACATGTTTTTCCTCCAGTGTATACCAGGCATATGACATGGATCCCCCTGGGGAACCAGGCTGATCTCTTTCCAGAGGGCACTATCCGACCAGTGCATGATGATATCCTCATCGCTCAGCTGCGGCCTGGCCAAGAAATTGACCTGCTCATGCACTGTGTCAAGGGCATTGGTGAGAACCCTGTGTGCCTTCCTGGGAAGGGGGATAGTTCGGTTGCAGTGGGGCAAGCTGACTAGGGAACTCAGCTGAGACATTCCCGGCAGGTAGAAAGCCAAGAGGGTTGTGCTTTTGCTGTTAGTAGCTTAGGAGGAGTATTCTTCCTAACCCTAGAAGGGTTTCCTATAGGCACGTTCCCTCTTCCTCTCCAGGCAAAGATCATGCCAAGTTTTCACCAGTGGCAACAGCCAGTTACAGGCTCCTGCCAGACATCACCCTGCTTGAGCCCGTGGAAGGGGAGGCAGCTGAGGAGTTGAGCAGGTGCTTCTCACCTGGTGTTATTGAGGTGCAGGAAGTCCAAGGTATGGTATTTGGGATGCTGTTCAAGTTAGGACCTAAATTATATTTTCTTTCAAGGTGACAGAAATAAAAACCCTGGGCTCCTAAAAGTATAACCTGGTTTGCTACCAAGTGGCAAATTAGAAAAAGGAATAAAAAAACATGGTTTGTTCTCATTAGGTAAAAAGGTGGCCAGAGTTGCCAACCCCCGGCTGGATACCTTCAGCAGAGAAATCTTCCGGAATGAGAAGCTAAAGAAGGTTGTGAGGCTTGCCCGGGTTCGAGATCATTATATCTGTGAGTATGAAGTGGTGAGATGAGTGGGCAGTGCTCTTTGGTGCTGCAGCTTCCTTCCAGTCTAGATGTGAAGTTTATGAGTAAGTTTTACAGGCAAGCCCTGCCTAGACTAAAGTGTCTCTTTGGTCCCCAGTCTCTGTTGAGTCAACGGGGGTGTTGCCACCAGATGTGCTGGTGAGTGAAGCCATCAAAGTACTGATGGGGAAGTGCCGGCGCTTCTTGGATGAACTAGATGCGGTTCAGATGGACTGAGCTTGGATGCTTCTGAGGCAAGCTGAAGCTTTGGGTTCTGACTGACCCACCCTACAGGACTGCTGAACAGAGAGCCCAGTGTGACTAGGGATCCTGAGTTTTCTGGGACAATTCCAGCTTTAATCAATACATTTTGTTAAATGTGCCATAAAATGAGACTTTTTACGCCTTTATAAGGCCTTAGATGTAAATAAACTCACCCAAACAAAAAAACTTTTTGAGACTACTTTTGAGTTTGTTTTTTGAGACAGTCTCACTGTGTTGCCCAGGCTGGAGTGCAGTGGTGCAATCTCAGCTCACTGCAGCTTCCTCCTGGGTTCAAGCAATTCTCAGGAGGCTGAGGCAAGAGTAGCTGATGCTACAGGCATGCACCACCACACCTAGCTATATGTCTAATTTTTTGTATTTTTAGTAGAGACAGGGTTTCACCATGTTGGTCAGGCTGGTGTCAAACTCCTGACCTCAAGTGATACGCCTGCCTTGGGGCCTCCCAAAGTGTTGGGATTACAGGTGTGAGCCACCGCGAAAAACAGGGGGCCTCACTTCAGAACTGGTTTAGCATTTACCAATTAAGAACATCAGATGTGCACTCCAGCCCGGGTAACAGTGAGACCCTGTTTCAAAAACAACAGAAAGAACACCTCCTGAGAATTGGCAAATTAAGGTGGTTTCTGGGAGCACAGCCAAACCCTAGAAAAACATTCAAGCTAGAGTGAATGTGCCACTTCACCTATCTCCTGGTTTACCAGGGAAGTTCATGTTGCTATTGACAGCTCCAACAAAGAACAGTAGCAATTCCTGTGGGCCAGGCCCAGCAGCCACACACGAAAGACACTGTGAGAATGGTATGGGCTGCCTAGTCTGGGTATGTCAGGAATAGAAATCCTTTTCTAACTGGCACACCATTTCAGAAAGCTTGAAAGACCAGAATC
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Task1_train_10381
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This mutation is located in gene POLR1C (RNA polymerase I and III subunit C) on Chromosome 6. Is it associated with a disease or is it a benign polymorphism?
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Pathogenic; Hypomyelinating leukodystrophy 11
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CATGAGGCACTCTTATGTCCCAGGCTGGAGTGCAGTGGCGCGATCTTGGCTCACTGCAACCTCCGCCTCCCGGGTTCAAGCAGTTCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGTCATGCGCCACTATGCCCAGCTAATTTTTTGTATTTTTGGTAGAGACGGGGTTTCACCATGCTGGCCAGGCTGGTCTCAAACTCCTGACCTTGTGATCTGCCCGTCTCAGCCTCCCAGAGTGCTGGGATTACAGGTGTGAGTGACTGTGCCGGGCCAGGAGGGGGTTTTTTAATCAATGCCAAGCATAACAGAAGTCTAGTAAGAGGACTGAGTAGTGTCAACAAAACTAAGCACTATGGTAGTTTCTGTTCTTCAGTAGAATAGCTTCTGTGGATGGTTTGGTTGGAAGCCATATTGCATAGGGTTTTAATGAATGGACGACAAAAATGGAGACTTTTCATGAAACTTAAAACACTGGGCGAGATAGAATATTTAATAAGAGACATTTGGGCAAAGGGAGGTTTTTGGATGAGAGGATAATACTTGAGGGAATTATCTAAGGGGGAGGTATGAAGAGATATTACACAGAGAGCAGATTTCACTTAAATGTTTTTTCCTGTCCCTCTAGAATTTCCGTGTGGATGTAGTACACATGGATGAAAACTCACTGGAGTTTGACATGGTGGGAATTGACGCAGCCATTGCCAATGCTTTTCGACGAATTCTGCTAGCTGAGGTATTGGCAGGCATGGTGACAAGGCTGGAGTTGCTTTGGGAACTGCACTGACACCTCACTTGGAGAATTAAGTGTCTCAAGCTGTCCTTCCCTCCTTAATTTTCCTGGAATTTTGCTGAGCATTTTACCTTCTCATTCTTTGTAAATTTCTCATTAAACATTCTAGGAAGAGAGATAGCTCCCTACCTCTGGAGGTTGGGGTTACGGGGATAGGTAGGGGGTCTGTTGGGTTTTTGCAGATAAGTGGTTATTTTTCCTTGGGCAGGTGCCAACTATGGCTGTGGAGAAGGTCCTGGTGTACAATAATACATCCATTGTTCAGGATGAGATTCTTGCTCACCGTCTGGGGCTCATTCCCATTCATGCTGATCCCCGTCTTTTTGAGTATCGGAACCAAGGTGAGAAAATGAAATTTTGGGAGAAGTGGACTATCTGGGTTCAAATCCTGGTTGACTGTGATGTTGGGTAAGTTACTTATCTTTGTACATCAGTGTCTTTCATCTGTGAGAACACTTGCCTTGTCTCCCAAGTTTGCCATAATTAAATGGGAAACACGTAAAGCATTCAGCATAGTGCTGGCACTCAGACGTTTACTAGTTCTTAGGAGCTCCCTCCATTTGTGCAGGAGATGAAGAAGGCACAGAGATAGATACTCTACAGTTTCGTCTCCAGGTCAGATGCACTCGGAACCCCCATGCTGCTAAAGATTCCTCTGACCCCAACGAACTGTACGTGAACCACAAAGGTGAGTAGTGGTAGGGTGAGGAAGAGGCCCCACCTGTGGGTAGCTGCTAGTTTTAGGGACTGAGATCTTCTGACATGTTTTTCCTCCAGTGTATACCAGGCATATGACATGGATCCCCCTGGGGAACCAGGCTGATCTCTTTCCAGAGGGCACTATCCGACCAGTGCATGATGATATCCTCATCGCTCAGCTGCGGCCTGGCCAAGAAATTGACCTGCTCATGCACTGTGTCAAGGGCATTGGTGAGAACCCTGTGTGCCTTCCTGGGAAGGGGGATAGTTCGGTTGCAGTGGGGCAAGCTGACTAGGGAACTCAGCTGAGACATTCCCGGCAGGTAGAAAGCCAAGAGGGTTGTGCTTTTGCTGTTAGTAGCTTAGGAGGAGTATTCTTCCTAACCCTAGAAGGGTTTCCTATAGGCACGTTCCCTCTTCCTCTCCAGGCAAAGATCATGCCAAGTTTTCACCAGTGGCAACAGCCAGTTACAGGCTCCTGCCAGACATCACCCTGCTTGAGCCCGTGGAAGGGGAGGCAGCTGAGGAGTTGAGCAGGTGCTTCTCACCTGGTGTTATTGAGGTGCAGGAAGTCCAAGGTATGGTATTTGGGATGCTGTTCAAGTTAGGACCTAAATTATATTTTCTTTCAAGGTGACAGAAATAAAAACCCTGGGCTCCTAAAAGTATAACCTGGTTTGCTACCAAGTGGCAAATTAGAAAAAGGAATAAAAAAACATGGTTTGTTCTCATTAGGTAAAAAGGTGGCCAGAGTTGCCAACCCCCGGCTGGATACCTTCAGCAGAGAAATCTTCCGGAATGAGAAGCTAAAGAAGGTTGTGAGGCTTGCCCGGGTTCGAGATCATTATATCTGTGAGTATGAAGTGGTGAGATGAGTGGGCAGTGCTCTTTGGTGCTGCAGCTTCCTTCCAGTCTAGATGTGAAGTTTATGAGTAAGTTTTACAGGCAAGCCCTGCCTAGACTAAAGTGTCTCTTTGGTCCCCAGTCTCTGTTGAGTCAACGGGGGTGTTGCCACCAGATGTGCTGGTGAGTGAAGCCATCAAAGTACTGATGGGGAAGTGCCGGCGCTTCTTGGATGAACTAGATGCGGTTCAGATGGACTGAGCTTGGATGCTTCTGAGGCAAGCTGAAGCTTTGGGTTCTGACTGACCCACCCTACAGGACTGCTGAACAGAGAGCCCAGTGTGACTAGGGATCCTGAGTTTTCTGGGACAATTCCAGCTTTAATCAATACATTTTGTTAAATGTGCCATAAAATGAGACTTTTTACGCCTTTATAAGGCCTTAGATGTAAATAAACTCACCCAAACAAAAAAACTTTTTGAGACTACTTTTGAGTTTGTTTTTTGAGACAGTCTCACTGTGTTGCCCAGGCTGGAGTGCAGTGGTGCAATCTCAGCTCACTGCAGCTTCCTCCTGGGTTCAAGCAATTCTCAGGAGGCTGAGGCAAGAGTAGCTGATGCTACAGGCATGCACCACCACACCTAGCTATATGTCTAATTTTTTGTATTTTTAGTAGAGACAGGGTTTCACCATGTTGGTCAGGCTGGTGTCAAACTCCTGACCTCAAGTGATACGCCTGCCTTGGGGCCTCCCAAAGTGTTGGGATTACAGGTGTGAGCCACCGCGAAAAACAGGGGGCCTCACTTCAGAACTGGTTTAGCATTTACCAATTAAGAACATCAGATGTGCACTCCAGCCCGGGTAACAGTGAGACCCTGTTTCAAAAACAACAGAAAGAACACCTCCTGAGAATTGGCAAATTAAGGTGGTTTCTGGGAGCACAGCCAAACCCTAGAAAAACATTCAAGCTAGAGTGAATGTGCCACTTCACCTATCTCCTGGTTTACCAGGGAAGTTCATGTTGCTATTGACAGCTCCAACAAAGAACAGTAGCAATTCCTGTGGGCCAGGCCCAGCAGCCACACACGAAAGACACTGTGAGAATGGTATGGGCTGCCTAGTCTGGGTATGTCAGGAATAGAAATCCTTTTCTAACTGGCACACCATTTCAGAAAGCTTGAAAGACCAGAATCATCAGTCACATTTCTTCCTGTTTTAGTCCCGGGTGCTCATGAAGTAACCCTGGAGTATGTCACTGGTTTTAAGACTAGGTTGAAAAAGGCAGATGGGTCCCTTTCTGTACGAAACTGAGATTTTTACTGACATGCAGATGTGCTTTAGAGTTAATGTTTCTACAAAAAGTTTCTATAAACAATAGAAAATTTCTAGCATGAAGTCACAGGATGTTAAAAATATTACAATGCAATAAATACAACTACATCCTCCACAGCCCCAACCAGACAGGAATAGGCAGCTATCAGGTTTGGAGGGAAACACTCTTGAGATCGCCTTCACGATCCACAGAAACCCAGAGCACCACACAGGAAGAGGGAGCAACACAAGACTCCCAACTTCTGCTTCCCCAGCTTTGCTTCTTCTCAATCTGACCCTGCCTGTGGCCCGCACCAGCTAAAAACTGTAGCTTCAGTCCACTTCGGCTCTCGGGGAAACCCTCTTGTCAGTGGACTGGATGGACAACAGGTCTGTTTTTGTGCAGAGCACATGGACACACTGGTTTCTGTATGGATTAACTCTGCCTTAC
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CATGAGGCACTCTTATGTCCCAGGCTGGAGTGCAGTGGCGCGATCTTGGCTCACTGCAACCTCCGCCTCCCGGGTTCAAGCAGTTCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGTCATGCGCCACTATGCCCAGCTAATTTTTTGTATTTTTGGTAGAGACGGGGTTTCACCATGCTGGCCAGGCTGGTCTCAAACTCCTGACCTTGTGATCTGCCCGTCTCAGCCTCCCAGAGTGCTGGGATTACAGGTGTGAGTGACTGTGCCGGGCCAGGAGGGGGTTTTTTAATCAATGCCAAGCATAACAGAAGTCTAGTAAGAGGACTGAGTAGTGTCAACAAAACTAAGCACTATGGTAGTTTCTGTTCTTCAGTAGAATAGCTTCTGTGGATGGTTTGGTTGGAAGCCATATTGCATAGGGTTTTAATGAATGGACGACAAAAATGGAGACTTTTCATGAAACTTAAAACACTGGGCGAGATAGAATATTTAATAAGAGACATTTGGGCAAAGGGAGGTTTTTGGATGAGAGGATAATACTTGAGGGAATTATCTAAGGGGGAGGTATGAAGAGATATTACACAGAGAGCAGATTTCACTTAAATGTTTTTTCCTGTCCCTCTAGAATTTCCGTGTGGATGTAGTACACATGGATGAAAACTCACTGGAGTTTGACATGGTGGGAATTGACGCAGCCATTGCCAATGCTTTTCGACGAATTCTGCTAGCTGAGGTATTGGCAGGCATGGTGACAAGGCTGGAGTTGCTTTGGGAACTGCACTGACACCTCACTTGGAGAATTAAGTGTCTCAAGCTGTCCTTCCCTCCTTAATTTTCCTGGAATTTTGCTGAGCATTTTACCTTCTCATTCTTTGTAAATTTCTCATTAAACATTCTAGGAAGAGAGATAGCTCCCTACCTCTGGAGGTTGGGGTTACGGGGATAGGTAGGGGGTCTGTTGGGTTTTTGCAGATAAGTGGTTATTTTTCCTTGGGCAGGTGCCAACTATGGCTGTGGAGAAGGTCCTGGTGTACAATAATACATCCATTGTTCAGGATGAGATTCTTGCTCACCGTCTGGGGCTCATTCCCATTCATGCTGATCCCCGTCTTTTTGAGTATCGGAACCAAGGTGAGAAAATGAAATTTTGGGAGAAGTGGACTATCTGGGTTCAAATCCTGGTTGACTGTGATGTTGGGTAAGTTACTTATCTTTGTACATCAGTGTCTTTCATCTGTGAGAACACTTGCCTTGTCTCCCAAGTTTGCCATAATTAAATGGGAAACACGTAAAGCATTCAGCATAGTGCTGGCACTCAGACGTTTACTAGTTCTTAGGAGCTCCCTCCATTTGTGCAGGAGATGAAGAAGGCACAGAGATAGATACTCTACAGTTTCGTCTCCAGGTCAGATGCACTCGGAACCCCCATGCTGCTAAAGATTCCTCTGACCCCAACGAACTGTACGTGAACCACAAAGGTGAGTAGTGGTAGGGTGAGGAAGAGGCCCCACCTGTGGGTAGCTGCTAGTTTTAGGGACTGAGATCTTCTGACATGTTTTTCCTCCAGTGTATACCAGGCATATGACATGGATCCCCCTGGGGAACCAGGCTGATCTCTTTCCAGAGGGCACTATCCGACCAGTGCATGATGATATCCTCATCGCTCAGCTGCGGCCTGGCCAAGAAATTGACCTGCTCATGCACTGTGTCAAGGGCATTGGTGAGAACCCTGTGTGCCTTCCTGGGAAGGGGGATAGTTCGGTTGCAGTGGGGCAAGCTGACTAGGGAACTCAGCTGAGACATTCCCGGCAGGTAGAAAGCCAAGAGGGTTGTGCTTTTGCTGTTAGTAGCTTAGGAGGAGTATTCTTCCTAACCCTAGAAGGGTTTCCTATAGGCACGTTCCCTCTTCCTCTCCAGGCAAAGATCATGCCAAGTTTTCACCAGTGGCAACAGCCAGTTACAGGCTCCTGCCAGACATCACCCTGCTTGAGCCCGTGGAAGGGGAGGCAGCTGAGGAGTTGAGCAGGTGCTTCTCACCTGGTGTTACTGAGGTGCAGGAAGTCCAAGGTATGGTATTTGGGATGCTGTTCAAGTTAGGACCTAAATTATATTTTCTTTCAAGGTGACAGAAATAAAAACCCTGGGCTCCTAAAAGTATAACCTGGTTTGCTACCAAGTGGCAAATTAGAAAAAGGAATAAAAAAACATGGTTTGTTCTCATTAGGTAAAAAGGTGGCCAGAGTTGCCAACCCCCGGCTGGATACCTTCAGCAGAGAAATCTTCCGGAATGAGAAGCTAAAGAAGGTTGTGAGGCTTGCCCGGGTTCGAGATCATTATATCTGTGAGTATGAAGTGGTGAGATGAGTGGGCAGTGCTCTTTGGTGCTGCAGCTTCCTTCCAGTCTAGATGTGAAGTTTATGAGTAAGTTTTACAGGCAAGCCCTGCCTAGACTAAAGTGTCTCTTTGGTCCCCAGTCTCTGTTGAGTCAACGGGGGTGTTGCCACCAGATGTGCTGGTGAGTGAAGCCATCAAAGTACTGATGGGGAAGTGCCGGCGCTTCTTGGATGAACTAGATGCGGTTCAGATGGACTGAGCTTGGATGCTTCTGAGGCAAGCTGAAGCTTTGGGTTCTGACTGACCCACCCTACAGGACTGCTGAACAGAGAGCCCAGTGTGACTAGGGATCCTGAGTTTTCTGGGACAATTCCAGCTTTAATCAATACATTTTGTTAAATGTGCCATAAAATGAGACTTTTTACGCCTTTATAAGGCCTTAGATGTAAATAAACTCACCCAAACAAAAAAACTTTTTGAGACTACTTTTGAGTTTGTTTTTTGAGACAGTCTCACTGTGTTGCCCAGGCTGGAGTGCAGTGGTGCAATCTCAGCTCACTGCAGCTTCCTCCTGGGTTCAAGCAATTCTCAGGAGGCTGAGGCAAGAGTAGCTGATGCTACAGGCATGCACCACCACACCTAGCTATATGTCTAATTTTTTGTATTTTTAGTAGAGACAGGGTTTCACCATGTTGGTCAGGCTGGTGTCAAACTCCTGACCTCAAGTGATACGCCTGCCTTGGGGCCTCCCAAAGTGTTGGGATTACAGGTGTGAGCCACCGCGAAAAACAGGGGGCCTCACTTCAGAACTGGTTTAGCATTTACCAATTAAGAACATCAGATGTGCACTCCAGCCCGGGTAACAGTGAGACCCTGTTTCAAAAACAACAGAAAGAACACCTCCTGAGAATTGGCAAATTAAGGTGGTTTCTGGGAGCACAGCCAAACCCTAGAAAAACATTCAAGCTAGAGTGAATGTGCCACTTCACCTATCTCCTGGTTTACCAGGGAAGTTCATGTTGCTATTGACAGCTCCAACAAAGAACAGTAGCAATTCCTGTGGGCCAGGCCCAGCAGCCACACACGAAAGACACTGTGAGAATGGTATGGGCTGCCTAGTCTGGGTATGTCAGGAATAGAAATCCTTTTCTAACTGGCACACCATTTCAGAAAGCTTGAAAGACCAGAATCATCAGTCACATTTCTTCCTGTTTTAGTCCCGGGTGCTCATGAAGTAACCCTGGAGTATGTCACTGGTTTTAAGACTAGGTTGAAAAAGGCAGATGGGTCCCTTTCTGTACGAAACTGAGATTTTTACTGACATGCAGATGTGCTTTAGAGTTAATGTTTCTACAAAAAGTTTCTATAAACAATAGAAAATTTCTAGCATGAAGTCACAGGATGTTAAAAATATTACAATGCAATAAATACAACTACATCCTCCACAGCCCCAACCAGACAGGAATAGGCAGCTATCAGGTTTGGAGGGAAACACTCTTGAGATCGCCTTCACGATCCACAGAAACCCAGAGCACCACACAGGAAGAGGGAGCAACACAAGACTCCCAACTTCTGCTTCCCCAGCTTTGCTTCTTCTCAATCTGACCCTGCCTGTGGCCCGCACCAGCTAAAAACTGTAGCTTCAGTCCACTTCGGCTCTCGGGGAAACCCTCTTGTCAGTGGACTGGATGGACAACAGGTCTGTTTTTGTGCAGAGCACATGGACACACTGGTTTCTGTATGGATTAACTCTGCCTTAC
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Task1_train_10382
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This variant affects the gene POLR1C (RNA polymerase I and III subunit C) found on Chromosome 6. What is the clinical effect of this variant — benign or pathogenic? State the disease if applicable.
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Pathogenic; Hypomyelinating leukodystrophy 11
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CTTGTGATCTGCCCGTCTCAGCCTCCCAGAGTGCTGGGATTACAGGTGTGAGTGACTGTGCCGGGCCAGGAGGGGGTTTTTTAATCAATGCCAAGCATAACAGAAGTCTAGTAAGAGGACTGAGTAGTGTCAACAAAACTAAGCACTATGGTAGTTTCTGTTCTTCAGTAGAATAGCTTCTGTGGATGGTTTGGTTGGAAGCCATATTGCATAGGGTTTTAATGAATGGACGACAAAAATGGAGACTTTTCATGAAACTTAAAACACTGGGCGAGATAGAATATTTAATAAGAGACATTTGGGCAAAGGGAGGTTTTTGGATGAGAGGATAATACTTGAGGGAATTATCTAAGGGGGAGGTATGAAGAGATATTACACAGAGAGCAGATTTCACTTAAATGTTTTTTCCTGTCCCTCTAGAATTTCCGTGTGGATGTAGTACACATGGATGAAAACTCACTGGAGTTTGACATGGTGGGAATTGACGCAGCCATTGCCAATGCTTTTCGACGAATTCTGCTAGCTGAGGTATTGGCAGGCATGGTGACAAGGCTGGAGTTGCTTTGGGAACTGCACTGACACCTCACTTGGAGAATTAAGTGTCTCAAGCTGTCCTTCCCTCCTTAATTTTCCTGGAATTTTGCTGAGCATTTTACCTTCTCATTCTTTGTAAATTTCTCATTAAACATTCTAGGAAGAGAGATAGCTCCCTACCTCTGGAGGTTGGGGTTACGGGGATAGGTAGGGGGTCTGTTGGGTTTTTGCAGATAAGTGGTTATTTTTCCTTGGGCAGGTGCCAACTATGGCTGTGGAGAAGGTCCTGGTGTACAATAATACATCCATTGTTCAGGATGAGATTCTTGCTCACCGTCTGGGGCTCATTCCCATTCATGCTGATCCCCGTCTTTTTGAGTATCGGAACCAAGGTGAGAAAATGAAATTTTGGGAGAAGTGGACTATCTGGGTTCAAATCCTGGTTGACTGTGATGTTGGGTAAGTTACTTATCTTTGTACATCAGTGTCTTTCATCTGTGAGAACACTTGCCTTGTCTCCCAAGTTTGCCATAATTAAATGGGAAACACGTAAAGCATTCAGCATAGTGCTGGCACTCAGACGTTTACTAGTTCTTAGGAGCTCCCTCCATTTGTGCAGGAGATGAAGAAGGCACAGAGATAGATACTCTACAGTTTCGTCTCCAGGTCAGATGCACTCGGAACCCCCATGCTGCTAAAGATTCCTCTGACCCCAACGAACTGTACGTGAACCACAAAGGTGAGTAGTGGTAGGGTGAGGAAGAGGCCCCACCTGTGGGTAGCTGCTAGTTTTAGGGACTGAGATCTTCTGACATGTTTTTCCTCCAGTGTATACCAGGCATATGACATGGATCCCCCTGGGGAACCAGGCTGATCTCTTTCCAGAGGGCACTATCCGACCAGTGCATGATGATATCCTCATCGCTCAGCTGCGGCCTGGCCAAGAAATTGACCTGCTCATGCACTGTGTCAAGGGCATTGGTGAGAACCCTGTGTGCCTTCCTGGGAAGGGGGATAGTTCGGTTGCAGTGGGGCAAGCTGACTAGGGAACTCAGCTGAGACATTCCCGGCAGGTAGAAAGCCAAGAGGGTTGTGCTTTTGCTGTTAGTAGCTTAGGAGGAGTATTCTTCCTAACCCTAGAAGGGTTTCCTATAGGCACGTTCCCTCTTCCTCTCCAGGCAAAGATCATGCCAAGTTTTCACCAGTGGCAACAGCCAGTTACAGGCTCCTGCCAGACATCACCCTGCTTGAGCCCGTGGAAGGGGAGGCAGCTGAGGAGTTGAGCAGGTGCTTCTCACCTGGTGTTATTGAGGTGCAGGAAGTCCAAGGTATGGTATTTGGGATGCTGTTCAAGTTAGGACCTAAATTATATTTTCTTTCAAGGTGACAGAAATAAAAACCCTGGGCTCCTAAAAGTATAACCTGGTTTGCTACCAAGTGGCAAATTAGAAAAAGGAATAAAAAAACATGGTTTGTTCTCATTAGGTAAAAAGGTGGCCAGAGTTGCCAACCCCCGGCTGGATACCTTCAGCAGAGAAATCTTCCGGAATGAGAAGCTAAAGAAGGTTGTGAGGCTTGCCCGGGTTCGAGATCATTATATCTGTGAGTATGAAGTGGTGAGATGAGTGGGCAGTGCTCTTTGGTGCTGCAGCTTCCTTCCAGTCTAGATGTGAAGTTTATGAGTAAGTTTTACAGGCAAGCCCTGCCTAGACTAAAGTGTCTCTTTGGTCCCCAGTCTCTGTTGAGTCAACGGGGGTGTTGCCACCAGATGTGCTGGTGAGTGAAGCCATCAAAGTACTGATGGGGAAGTGCCGGCGCTTCTTGGATGAACTAGATGCGGTTCAGATGGACTGAGCTTGGATGCTTCTGAGGCAAGCTGAAGCTTTGGGTTCTGACTGACCCACCCTACAGGACTGCTGAACAGAGAGCCCAGTGTGACTAGGGATCCTGAGTTTTCTGGGACAATTCCAGCTTTAATCAATACATTTTGTTAAATGTGCCATAAAATGAGACTTTTTACGCCTTTATAAGGCCTTAGATGTAAATAAACTCACCCAAACAAAAAAACTTTTTGAGACTACTTTTGAGTTTGTTTTTTGAGACAGTCTCACTGTGTTGCCCAGGCTGGAGTGCAGTGGTGCAATCTCAGCTCACTGCAGCTTCCTCCTGGGTTCAAGCAATTCTCAGGAGGCTGAGGCAAGAGTAGCTGATGCTACAGGCATGCACCACCACACCTAGCTATATGTCTAATTTTTTGTATTTTTAGTAGAGACAGGGTTTCACCATGTTGGTCAGGCTGGTGTCAAACTCCTGACCTCAAGTGATACGCCTGCCTTGGGGCCTCCCAAAGTGTTGGGATTACAGGTGTGAGCCACCGCGAAAAACAGGGGGCCTCACTTCAGAACTGGTTTAGCATTTACCAATTAAGAACATCAGATGTGCACTCCAGCCCGGGTAACAGTGAGACCCTGTTTCAAAAACAACAGAAAGAACACCTCCTGAGAATTGGCAAATTAAGGTGGTTTCTGGGAGCACAGCCAAACCCTAGAAAAACATTCAAGCTAGAGTGAATGTGCCACTTCACCTATCTCCTGGTTTACCAGGGAAGTTCATGTTGCTATTGACAGCTCCAACAAAGAACAGTAGCAATTCCTGTGGGCCAGGCCCAGCAGCCACACACGAAAGACACTGTGAGAATGGTATGGGCTGCCTAGTCTGGGTATGTCAGGAATAGAAATCCTTTTCTAACTGGCACACCATTTCAGAAAGCTTGAAAGACCAGAATCATCAGTCACATTTCTTCCTGTTTTAGTCCCGGGTGCTCATGAAGTAACCCTGGAGTATGTCACTGGTTTTAAGACTAGGTTGAAAAAGGCAGATGGGTCCCTTTCTGTACGAAACTGAGATTTTTACTGACATGCAGATGTGCTTTAGAGTTAATGTTTCTACAAAAAGTTTCTATAAACAATAGAAAATTTCTAGCATGAAGTCACAGGATGTTAAAAATATTACAATGCAATAAATACAACTACATCCTCCACAGCCCCAACCAGACAGGAATAGGCAGCTATCAGGTTTGGAGGGAAACACTCTTGAGATCGCCTTCACGATCCACAGAAACCCAGAGCACCACACAGGAAGAGGGAGCAACACAAGACTCCCAACTTCTGCTTCCCCAGCTTTGCTTCTTCTCAATCTGACCCTGCCTGTGGCCCGCACCAGCTAAAAACTGTAGCTTCAGTCCACTTCGGCTCTCGGGGAAACCCTCTTGTCAGTGGACTGGATGGACAACAGGTCTGTTTTTGTGCAGAGCACATGGACACACTGGTTTCTGTATGGATTAACTCTGCCTTACGGCCAGTAATAACCTCAGGGCCAGGTCCCGTATCCATGTCCTCTCTTTACAGGGCCTTTCAGTGACCTCTAGAATGGACTCACAGTACAGGTTGTGATGTGAAGGCATGTATTCTTTTGGAAATGGCCTTTGAGAAAAGTAACCAGGGACCTGAAAGACCATGAGATTGTGGAAGGCACCTGGACTTAGTCCTAGGAGAAGACCAGC
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CTTGTGATCTGCCCGTCTCAGCCTCCCAGAGTGCTGGGATTACAGGTGTGAGTGACTGTGCCGGGCCAGGAGGGGGTTTTTTAATCAATGCCAAGCATAACAGAAGTCTAGTAAGAGGACTGAGTAGTGTCAACAAAACTAAGCACTATGGTAGTTTCTGTTCTTCAGTAGAATAGCTTCTGTGGATGGTTTGGTTGGAAGCCATATTGCATAGGGTTTTAATGAATGGACGACAAAAATGGAGACTTTTCATGAAACTTAAAACACTGGGCGAGATAGAATATTTAATAAGAGACATTTGGGCAAAGGGAGGTTTTTGGATGAGAGGATAATACTTGAGGGAATTATCTAAGGGGGAGGTATGAAGAGATATTACACAGAGAGCAGATTTCACTTAAATGTTTTTTCCTGTCCCTCTAGAATTTCCGTGTGGATGTAGTACACATGGATGAAAACTCACTGGAGTTTGACATGGTGGGAATTGACGCAGCCATTGCCAATGCTTTTCGACGAATTCTGCTAGCTGAGGTATTGGCAGGCATGGTGACAAGGCTGGAGTTGCTTTGGGAACTGCACTGACACCTCACTTGGAGAATTAAGTGTCTCAAGCTGTCCTTCCCTCCTTAATTTTCCTGGAATTTTGCTGAGCATTTTACCTTCTCATTCTTTGTAAATTTCTCATTAAACATTCTAGGAAGAGAGATAGCTCCCTACCTCTGGAGGTTGGGGTTACGGGGATAGGTAGGGGGTCTGTTGGGTTTTTGCAGATAAGTGGTTATTTTTCCTTGGGCAGGTGCCAACTATGGCTGTGGAGAAGGTCCTGGTGTACAATAATACATCCATTGTTCAGGATGAGATTCTTGCTCACCGTCTGGGGCTCATTCCCATTCATGCTGATCCCCGTCTTTTTGAGTATCGGAACCAAGGTGAGAAAATGAAATTTTGGGAGAAGTGGACTATCTGGGTTCAAATCCTGGTTGACTGTGATGTTGGGTAAGTTACTTATCTTTGTACATCAGTGTCTTTCATCTGTGAGAACACTTGCCTTGTCTCCCAAGTTTGCCATAATTAAATGGGAAACACGTAAAGCATTCAGCATAGTGCTGGCACTCAGACGTTTACTAGTTCTTAGGAGCTCCCTCCATTTGTGCAGGAGATGAAGAAGGCACAGAGATAGATACTCTACAGTTTCGTCTCCAGGTCAGATGCACTCGGAACCCCCATGCTGCTAAAGATTCCTCTGACCCCAACGAACTGTACGTGAACCACAAAGGTGAGTAGTGGTAGGGTGAGGAAGAGGCCCCACCTGTGGGTAGCTGCTAGTTTTAGGGACTGAGATCTTCTGACATGTTTTTCCTCCAGTGTATACCAGGCATATGACATGGATCCCCCTGGGGAACCAGGCTGATCTCTTTCCAGAGGGCACTATCCGACCAGTGCATGATGATATCCTCATCGCTCAGCTGCGGCCTGGCCAAGAAATTGACCTGCTCATGCACTGTGTCAAGGGCATTGGTGAGAACCCTGTGTGCCTTCCTGGGAAGGGGGATAGTTCGGTTGCAGTGGGGCAAGCTGACTAGGGAACTCAGCTGAGACATTCCCGGCAGGTAGAAAGCCAAGAGGGTTGTGCTTTTGCTGTTAGTAGCTTAGGAGGAGTATTCTTCCTAACCCTAGAAGGGTTTCCTATAGGCACGTTCCCTCTTCCTCTCCAGGCAAAGATCATGCCAAGTTTTCACCAGTGGCAACAGCCAGTTACAGGCTCCTGCCAGACATCACCCTGCTTGAGCCCGTGGAAGGGGAGGCAGCTGAGGAGTTGAGCAGGTGCTTCTCACCTGGTGTTATTGAGGTGCAGGAAGTCCAAGGTATGGTATTTGGGATGCTGTTCAAGTTAGGACCTAAATTATATTTTCTTTCAAGGTGACAGAAATAAAAACCCTGGGCTCCTAAAAGTATAACCTGGTTTGCTACCAAGTGGCAAATTAGAAAAAGGAATAAAAAAACATGGTTTGTTCTCATTAGGTAAAAAGGTGGCCAGAGTTGCCAACCCCTGGCTGGATACCTTCAGCAGAGAAATCTTCCGGAATGAGAAGCTAAAGAAGGTTGTGAGGCTTGCCCGGGTTCGAGATCATTATATCTGTGAGTATGAAGTGGTGAGATGAGTGGGCAGTGCTCTTTGGTGCTGCAGCTTCCTTCCAGTCTAGATGTGAAGTTTATGAGTAAGTTTTACAGGCAAGCCCTGCCTAGACTAAAGTGTCTCTTTGGTCCCCAGTCTCTGTTGAGTCAACGGGGGTGTTGCCACCAGATGTGCTGGTGAGTGAAGCCATCAAAGTACTGATGGGGAAGTGCCGGCGCTTCTTGGATGAACTAGATGCGGTTCAGATGGACTGAGCTTGGATGCTTCTGAGGCAAGCTGAAGCTTTGGGTTCTGACTGACCCACCCTACAGGACTGCTGAACAGAGAGCCCAGTGTGACTAGGGATCCTGAGTTTTCTGGGACAATTCCAGCTTTAATCAATACATTTTGTTAAATGTGCCATAAAATGAGACTTTTTACGCCTTTATAAGGCCTTAGATGTAAATAAACTCACCCAAACAAAAAAACTTTTTGAGACTACTTTTGAGTTTGTTTTTTGAGACAGTCTCACTGTGTTGCCCAGGCTGGAGTGCAGTGGTGCAATCTCAGCTCACTGCAGCTTCCTCCTGGGTTCAAGCAATTCTCAGGAGGCTGAGGCAAGAGTAGCTGATGCTACAGGCATGCACCACCACACCTAGCTATATGTCTAATTTTTTGTATTTTTAGTAGAGACAGGGTTTCACCATGTTGGTCAGGCTGGTGTCAAACTCCTGACCTCAAGTGATACGCCTGCCTTGGGGCCTCCCAAAGTGTTGGGATTACAGGTGTGAGCCACCGCGAAAAACAGGGGGCCTCACTTCAGAACTGGTTTAGCATTTACCAATTAAGAACATCAGATGTGCACTCCAGCCCGGGTAACAGTGAGACCCTGTTTCAAAAACAACAGAAAGAACACCTCCTGAGAATTGGCAAATTAAGGTGGTTTCTGGGAGCACAGCCAAACCCTAGAAAAACATTCAAGCTAGAGTGAATGTGCCACTTCACCTATCTCCTGGTTTACCAGGGAAGTTCATGTTGCTATTGACAGCTCCAACAAAGAACAGTAGCAATTCCTGTGGGCCAGGCCCAGCAGCCACACACGAAAGACACTGTGAGAATGGTATGGGCTGCCTAGTCTGGGTATGTCAGGAATAGAAATCCTTTTCTAACTGGCACACCATTTCAGAAAGCTTGAAAGACCAGAATCATCAGTCACATTTCTTCCTGTTTTAGTCCCGGGTGCTCATGAAGTAACCCTGGAGTATGTCACTGGTTTTAAGACTAGGTTGAAAAAGGCAGATGGGTCCCTTTCTGTACGAAACTGAGATTTTTACTGACATGCAGATGTGCTTTAGAGTTAATGTTTCTACAAAAAGTTTCTATAAACAATAGAAAATTTCTAGCATGAAGTCACAGGATGTTAAAAATATTACAATGCAATAAATACAACTACATCCTCCACAGCCCCAACCAGACAGGAATAGGCAGCTATCAGGTTTGGAGGGAAACACTCTTGAGATCGCCTTCACGATCCACAGAAACCCAGAGCACCACACAGGAAGAGGGAGCAACACAAGACTCCCAACTTCTGCTTCCCCAGCTTTGCTTCTTCTCAATCTGACCCTGCCTGTGGCCCGCACCAGCTAAAAACTGTAGCTTCAGTCCACTTCGGCTCTCGGGGAAACCCTCTTGTCAGTGGACTGGATGGACAACAGGTCTGTTTTTGTGCAGAGCACATGGACACACTGGTTTCTGTATGGATTAACTCTGCCTTACGGCCAGTAATAACCTCAGGGCCAGGTCCCGTATCCATGTCCTCTCTTTACAGGGCCTTTCAGTGACCTCTAGAATGGACTCACAGTACAGGTTGTGATGTGAAGGCATGTATTCTTTTGGAAATGGCCTTTGAGAAAAGTAACCAGGGACCTGAAAGACCATGAGATTGTGGAAGGCACCTGGACTTAGTCCTAGGAGAAGACCAGC
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Task1_train_10383
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This variant impacts the gene POLR1C (RNA polymerase I and III subunit C) on Chromosome 6. Is the change likely to result in a pathogenic outcome?
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Pathogenic; Treacher Collins syndrome 3
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CTTGTGATCTGCCCGTCTCAGCCTCCCAGAGTGCTGGGATTACAGGTGTGAGTGACTGTGCCGGGCCAGGAGGGGGTTTTTTAATCAATGCCAAGCATAACAGAAGTCTAGTAAGAGGACTGAGTAGTGTCAACAAAACTAAGCACTATGGTAGTTTCTGTTCTTCAGTAGAATAGCTTCTGTGGATGGTTTGGTTGGAAGCCATATTGCATAGGGTTTTAATGAATGGACGACAAAAATGGAGACTTTTCATGAAACTTAAAACACTGGGCGAGATAGAATATTTAATAAGAGACATTTGGGCAAAGGGAGGTTTTTGGATGAGAGGATAATACTTGAGGGAATTATCTAAGGGGGAGGTATGAAGAGATATTACACAGAGAGCAGATTTCACTTAAATGTTTTTTCCTGTCCCTCTAGAATTTCCGTGTGGATGTAGTACACATGGATGAAAACTCACTGGAGTTTGACATGGTGGGAATTGACGCAGCCATTGCCAATGCTTTTCGACGAATTCTGCTAGCTGAGGTATTGGCAGGCATGGTGACAAGGCTGGAGTTGCTTTGGGAACTGCACTGACACCTCACTTGGAGAATTAAGTGTCTCAAGCTGTCCTTCCCTCCTTAATTTTCCTGGAATTTTGCTGAGCATTTTACCTTCTCATTCTTTGTAAATTTCTCATTAAACATTCTAGGAAGAGAGATAGCTCCCTACCTCTGGAGGTTGGGGTTACGGGGATAGGTAGGGGGTCTGTTGGGTTTTTGCAGATAAGTGGTTATTTTTCCTTGGGCAGGTGCCAACTATGGCTGTGGAGAAGGTCCTGGTGTACAATAATACATCCATTGTTCAGGATGAGATTCTTGCTCACCGTCTGGGGCTCATTCCCATTCATGCTGATCCCCGTCTTTTTGAGTATCGGAACCAAGGTGAGAAAATGAAATTTTGGGAGAAGTGGACTATCTGGGTTCAAATCCTGGTTGACTGTGATGTTGGGTAAGTTACTTATCTTTGTACATCAGTGTCTTTCATCTGTGAGAACACTTGCCTTGTCTCCCAAGTTTGCCATAATTAAATGGGAAACACGTAAAGCATTCAGCATAGTGCTGGCACTCAGACGTTTACTAGTTCTTAGGAGCTCCCTCCATTTGTGCAGGAGATGAAGAAGGCACAGAGATAGATACTCTACAGTTTCGTCTCCAGGTCAGATGCACTCGGAACCCCCATGCTGCTAAAGATTCCTCTGACCCCAACGAACTGTACGTGAACCACAAAGGTGAGTAGTGGTAGGGTGAGGAAGAGGCCCCACCTGTGGGTAGCTGCTAGTTTTAGGGACTGAGATCTTCTGACATGTTTTTCCTCCAGTGTATACCAGGCATATGACATGGATCCCCCTGGGGAACCAGGCTGATCTCTTTCCAGAGGGCACTATCCGACCAGTGCATGATGATATCCTCATCGCTCAGCTGCGGCCTGGCCAAGAAATTGACCTGCTCATGCACTGTGTCAAGGGCATTGGTGAGAACCCTGTGTGCCTTCCTGGGAAGGGGGATAGTTCGGTTGCAGTGGGGCAAGCTGACTAGGGAACTCAGCTGAGACATTCCCGGCAGGTAGAAAGCCAAGAGGGTTGTGCTTTTGCTGTTAGTAGCTTAGGAGGAGTATTCTTCCTAACCCTAGAAGGGTTTCCTATAGGCACGTTCCCTCTTCCTCTCCAGGCAAAGATCATGCCAAGTTTTCACCAGTGGCAACAGCCAGTTACAGGCTCCTGCCAGACATCACCCTGCTTGAGCCCGTGGAAGGGGAGGCAGCTGAGGAGTTGAGCAGGTGCTTCTCACCTGGTGTTATTGAGGTGCAGGAAGTCCAAGGTATGGTATTTGGGATGCTGTTCAAGTTAGGACCTAAATTATATTTTCTTTCAAGGTGACAGAAATAAAAACCCTGGGCTCCTAAAAGTATAACCTGGTTTGCTACCAAGTGGCAAATTAGAAAAAGGAATAAAAAAACATGGTTTGTTCTCATTAGGTAAAAAGGTGGCCAGAGTTGCCAACCCCCGGCTGGATACCTTCAGCAGAGAAATCTTCCGGAATGAGAAGCTAAAGAAGGTTGTGAGGCTTGCCCGGGTTCGAGATCATTATATCTGTGAGTATGAAGTGGTGAGATGAGTGGGCAGTGCTCTTTGGTGCTGCAGCTTCCTTCCAGTCTAGATGTGAAGTTTATGAGTAAGTTTTACAGGCAAGCCCTGCCTAGACTAAAGTGTCTCTTTGGTCCCCAGTCTCTGTTGAGTCAACGGGGGTGTTGCCACCAGATGTGCTGGTGAGTGAAGCCATCAAAGTACTGATGGGGAAGTGCCGGCGCTTCTTGGATGAACTAGATGCGGTTCAGATGGACTGAGCTTGGATGCTTCTGAGGCAAGCTGAAGCTTTGGGTTCTGACTGACCCACCCTACAGGACTGCTGAACAGAGAGCCCAGTGTGACTAGGGATCCTGAGTTTTCTGGGACAATTCCAGCTTTAATCAATACATTTTGTTAAATGTGCCATAAAATGAGACTTTTTACGCCTTTATAAGGCCTTAGATGTAAATAAACTCACCCAAACAAAAAAACTTTTTGAGACTACTTTTGAGTTTGTTTTTTGAGACAGTCTCACTGTGTTGCCCAGGCTGGAGTGCAGTGGTGCAATCTCAGCTCACTGCAGCTTCCTCCTGGGTTCAAGCAATTCTCAGGAGGCTGAGGCAAGAGTAGCTGATGCTACAGGCATGCACCACCACACCTAGCTATATGTCTAATTTTTTGTATTTTTAGTAGAGACAGGGTTTCACCATGTTGGTCAGGCTGGTGTCAAACTCCTGACCTCAAGTGATACGCCTGCCTTGGGGCCTCCCAAAGTGTTGGGATTACAGGTGTGAGCCACCGCGAAAAACAGGGGGCCTCACTTCAGAACTGGTTTAGCATTTACCAATTAAGAACATCAGATGTGCACTCCAGCCCGGGTAACAGTGAGACCCTGTTTCAAAAACAACAGAAAGAACACCTCCTGAGAATTGGCAAATTAAGGTGGTTTCTGGGAGCACAGCCAAACCCTAGAAAAACATTCAAGCTAGAGTGAATGTGCCACTTCACCTATCTCCTGGTTTACCAGGGAAGTTCATGTTGCTATTGACAGCTCCAACAAAGAACAGTAGCAATTCCTGTGGGCCAGGCCCAGCAGCCACACACGAAAGACACTGTGAGAATGGTATGGGCTGCCTAGTCTGGGTATGTCAGGAATAGAAATCCTTTTCTAACTGGCACACCATTTCAGAAAGCTTGAAAGACCAGAATCATCAGTCACATTTCTTCCTGTTTTAGTCCCGGGTGCTCATGAAGTAACCCTGGAGTATGTCACTGGTTTTAAGACTAGGTTGAAAAAGGCAGATGGGTCCCTTTCTGTACGAAACTGAGATTTTTACTGACATGCAGATGTGCTTTAGAGTTAATGTTTCTACAAAAAGTTTCTATAAACAATAGAAAATTTCTAGCATGAAGTCACAGGATGTTAAAAATATTACAATGCAATAAATACAACTACATCCTCCACAGCCCCAACCAGACAGGAATAGGCAGCTATCAGGTTTGGAGGGAAACACTCTTGAGATCGCCTTCACGATCCACAGAAACCCAGAGCACCACACAGGAAGAGGGAGCAACACAAGACTCCCAACTTCTGCTTCCCCAGCTTTGCTTCTTCTCAATCTGACCCTGCCTGTGGCCCGCACCAGCTAAAAACTGTAGCTTCAGTCCACTTCGGCTCTCGGGGAAACCCTCTTGTCAGTGGACTGGATGGACAACAGGTCTGTTTTTGTGCAGAGCACATGGACACACTGGTTTCTGTATGGATTAACTCTGCCTTACGGCCAGTAATAACCTCAGGGCCAGGTCCCGTATCCATGTCCTCTCTTTACAGGGCCTTTCAGTGACCTCTAGAATGGACTCACAGTACAGGTTGTGATGTGAAGGCATGTATTCTTTTGGAAATGGCCTTTGAGAAAAGTAACCAGGGACCTGAAAGACCATGAGATTGTGGAAGGCACCTGGACTTAGTCCTAGGAGAAGACCAGC
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CTTGTGATCTGCCCGTCTCAGCCTCCCAGAGTGCTGGGATTACAGGTGTGAGTGACTGTGCCGGGCCAGGAGGGGGTTTTTTAATCAATGCCAAGCATAACAGAAGTCTAGTAAGAGGACTGAGTAGTGTCAACAAAACTAAGCACTATGGTAGTTTCTGTTCTTCAGTAGAATAGCTTCTGTGGATGGTTTGGTTGGAAGCCATATTGCATAGGGTTTTAATGAATGGACGACAAAAATGGAGACTTTTCATGAAACTTAAAACACTGGGCGAGATAGAATATTTAATAAGAGACATTTGGGCAAAGGGAGGTTTTTGGATGAGAGGATAATACTTGAGGGAATTATCTAAGGGGGAGGTATGAAGAGATATTACACAGAGAGCAGATTTCACTTAAATGTTTTTTCCTGTCCCTCTAGAATTTCCGTGTGGATGTAGTACACATGGATGAAAACTCACTGGAGTTTGACATGGTGGGAATTGACGCAGCCATTGCCAATGCTTTTCGACGAATTCTGCTAGCTGAGGTATTGGCAGGCATGGTGACAAGGCTGGAGTTGCTTTGGGAACTGCACTGACACCTCACTTGGAGAATTAAGTGTCTCAAGCTGTCCTTCCCTCCTTAATTTTCCTGGAATTTTGCTGAGCATTTTACCTTCTCATTCTTTGTAAATTTCTCATTAAACATTCTAGGAAGAGAGATAGCTCCCTACCTCTGGAGGTTGGGGTTACGGGGATAGGTAGGGGGTCTGTTGGGTTTTTGCAGATAAGTGGTTATTTTTCCTTGGGCAGGTGCCAACTATGGCTGTGGAGAAGGTCCTGGTGTACAATAATACATCCATTGTTCAGGATGAGATTCTTGCTCACCGTCTGGGGCTCATTCCCATTCATGCTGATCCCCGTCTTTTTGAGTATCGGAACCAAGGTGAGAAAATGAAATTTTGGGAGAAGTGGACTATCTGGGTTCAAATCCTGGTTGACTGTGATGTTGGGTAAGTTACTTATCTTTGTACATCAGTGTCTTTCATCTGTGAGAACACTTGCCTTGTCTCCCAAGTTTGCCATAATTAAATGGGAAACACGTAAAGCATTCAGCATAGTGCTGGCACTCAGACGTTTACTAGTTCTTAGGAGCTCCCTCCATTTGTGCAGGAGATGAAGAAGGCACAGAGATAGATACTCTACAGTTTCGTCTCCAGGTCAGATGCACTCGGAACCCCCATGCTGCTAAAGATTCCTCTGACCCCAACGAACTGTACGTGAACCACAAAGGTGAGTAGTGGTAGGGTGAGGAAGAGGCCCCACCTGTGGGTAGCTGCTAGTTTTAGGGACTGAGATCTTCTGACATGTTTTTCCTCCAGTGTATACCAGGCATATGACATGGATCCCCCTGGGGAACCAGGCTGATCTCTTTCCAGAGGGCACTATCCGACCAGTGCATGATGATATCCTCATCGCTCAGCTGCGGCCTGGCCAAGAAATTGACCTGCTCATGCACTGTGTCAAGGGCATTGGTGAGAACCCTGTGTGCCTTCCTGGGAAGGGGGATAGTTCGGTTGCAGTGGGGCAAGCTGACTAGGGAACTCAGCTGAGACATTCCCGGCAGGTAGAAAGCCAAGAGGGTTGTGCTTTTGCTGTTAGTAGCTTAGGAGGAGTATTCTTCCTAACCCTAGAAGGGTTTCCTATAGGCACGTTCCCTCTTCCTCTCCAGGCAAAGATCATGCCAAGTTTTCACCAGTGGCAACAGCCAGTTACAGGCTCCTGCCAGACATCACCCTGCTTGAGCCCGTGGAAGGGGAGGCAGCTGAGGAGTTGAGCAGGTGCTTCTCACCTGGTGTTATTGAGGTGCAGGAAGTCCAAGGTATGGTATTTGGGATGCTGTTCAAGTTAGGACCTAAATTATATTTTCTTTCAAGGTGACAGAAATAAAAACCCTGGGCTCCTAAAAGTATAACCTGGTTTGCTACCAAGTGGCAAATTAGAAAAAGGAATAAAAAAACATGGTTTGTTCTCATTAGGTAAAAAGGTGGCCAGAGTTGCCAACCCCTGGCTGGATACCTTCAGCAGAGAAATCTTCCGGAATGAGAAGCTAAAGAAGGTTGTGAGGCTTGCCCGGGTTCGAGATCATTATATCTGTGAGTATGAAGTGGTGAGATGAGTGGGCAGTGCTCTTTGGTGCTGCAGCTTCCTTCCAGTCTAGATGTGAAGTTTATGAGTAAGTTTTACAGGCAAGCCCTGCCTAGACTAAAGTGTCTCTTTGGTCCCCAGTCTCTGTTGAGTCAACGGGGGTGTTGCCACCAGATGTGCTGGTGAGTGAAGCCATCAAAGTACTGATGGGGAAGTGCCGGCGCTTCTTGGATGAACTAGATGCGGTTCAGATGGACTGAGCTTGGATGCTTCTGAGGCAAGCTGAAGCTTTGGGTTCTGACTGACCCACCCTACAGGACTGCTGAACAGAGAGCCCAGTGTGACTAGGGATCCTGAGTTTTCTGGGACAATTCCAGCTTTAATCAATACATTTTGTTAAATGTGCCATAAAATGAGACTTTTTACGCCTTTATAAGGCCTTAGATGTAAATAAACTCACCCAAACAAAAAAACTTTTTGAGACTACTTTTGAGTTTGTTTTTTGAGACAGTCTCACTGTGTTGCCCAGGCTGGAGTGCAGTGGTGCAATCTCAGCTCACTGCAGCTTCCTCCTGGGTTCAAGCAATTCTCAGGAGGCTGAGGCAAGAGTAGCTGATGCTACAGGCATGCACCACCACACCTAGCTATATGTCTAATTTTTTGTATTTTTAGTAGAGACAGGGTTTCACCATGTTGGTCAGGCTGGTGTCAAACTCCTGACCTCAAGTGATACGCCTGCCTTGGGGCCTCCCAAAGTGTTGGGATTACAGGTGTGAGCCACCGCGAAAAACAGGGGGCCTCACTTCAGAACTGGTTTAGCATTTACCAATTAAGAACATCAGATGTGCACTCCAGCCCGGGTAACAGTGAGACCCTGTTTCAAAAACAACAGAAAGAACACCTCCTGAGAATTGGCAAATTAAGGTGGTTTCTGGGAGCACAGCCAAACCCTAGAAAAACATTCAAGCTAGAGTGAATGTGCCACTTCACCTATCTCCTGGTTTACCAGGGAAGTTCATGTTGCTATTGACAGCTCCAACAAAGAACAGTAGCAATTCCTGTGGGCCAGGCCCAGCAGCCACACACGAAAGACACTGTGAGAATGGTATGGGCTGCCTAGTCTGGGTATGTCAGGAATAGAAATCCTTTTCTAACTGGCACACCATTTCAGAAAGCTTGAAAGACCAGAATCATCAGTCACATTTCTTCCTGTTTTAGTCCCGGGTGCTCATGAAGTAACCCTGGAGTATGTCACTGGTTTTAAGACTAGGTTGAAAAAGGCAGATGGGTCCCTTTCTGTACGAAACTGAGATTTTTACTGACATGCAGATGTGCTTTAGAGTTAATGTTTCTACAAAAAGTTTCTATAAACAATAGAAAATTTCTAGCATGAAGTCACAGGATGTTAAAAATATTACAATGCAATAAATACAACTACATCCTCCACAGCCCCAACCAGACAGGAATAGGCAGCTATCAGGTTTGGAGGGAAACACTCTTGAGATCGCCTTCACGATCCACAGAAACCCAGAGCACCACACAGGAAGAGGGAGCAACACAAGACTCCCAACTTCTGCTTCCCCAGCTTTGCTTCTTCTCAATCTGACCCTGCCTGTGGCCCGCACCAGCTAAAAACTGTAGCTTCAGTCCACTTCGGCTCTCGGGGAAACCCTCTTGTCAGTGGACTGGATGGACAACAGGTCTGTTTTTGTGCAGAGCACATGGACACACTGGTTTCTGTATGGATTAACTCTGCCTTACGGCCAGTAATAACCTCAGGGCCAGGTCCCGTATCCATGTCCTCTCTTTACAGGGCCTTTCAGTGACCTCTAGAATGGACTCACAGTACAGGTTGTGATGTGAAGGCATGTATTCTTTTGGAAATGGCCTTTGAGAAAAGTAACCAGGGACCTGAAAGACCATGAGATTGTGGAAGGCACCTGGACTTAGTCCTAGGAGAAGACCAGC
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Task1_train_10384
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Given a variant located on Chromosome 6 and affecting POLR1C (RNA polymerase I and III subunit C), assess whether it is benign or pathogenic. Indicate the associated disease if pathogenic.
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Pathogenic; Hypomyelinating leukodystrophy 11
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CTTGTGATCTGCCCGTCTCAGCCTCCCAGAGTGCTGGGATTACAGGTGTGAGTGACTGTGCCGGGCCAGGAGGGGGTTTTTTAATCAATGCCAAGCATAACAGAAGTCTAGTAAGAGGACTGAGTAGTGTCAACAAAACTAAGCACTATGGTAGTTTCTGTTCTTCAGTAGAATAGCTTCTGTGGATGGTTTGGTTGGAAGCCATATTGCATAGGGTTTTAATGAATGGACGACAAAAATGGAGACTTTTCATGAAACTTAAAACACTGGGCGAGATAGAATATTTAATAAGAGACATTTGGGCAAAGGGAGGTTTTTGGATGAGAGGATAATACTTGAGGGAATTATCTAAGGGGGAGGTATGAAGAGATATTACACAGAGAGCAGATTTCACTTAAATGTTTTTTCCTGTCCCTCTAGAATTTCCGTGTGGATGTAGTACACATGGATGAAAACTCACTGGAGTTTGACATGGTGGGAATTGACGCAGCCATTGCCAATGCTTTTCGACGAATTCTGCTAGCTGAGGTATTGGCAGGCATGGTGACAAGGCTGGAGTTGCTTTGGGAACTGCACTGACACCTCACTTGGAGAATTAAGTGTCTCAAGCTGTCCTTCCCTCCTTAATTTTCCTGGAATTTTGCTGAGCATTTTACCTTCTCATTCTTTGTAAATTTCTCATTAAACATTCTAGGAAGAGAGATAGCTCCCTACCTCTGGAGGTTGGGGTTACGGGGATAGGTAGGGGGTCTGTTGGGTTTTTGCAGATAAGTGGTTATTTTTCCTTGGGCAGGTGCCAACTATGGCTGTGGAGAAGGTCCTGGTGTACAATAATACATCCATTGTTCAGGATGAGATTCTTGCTCACCGTCTGGGGCTCATTCCCATTCATGCTGATCCCCGTCTTTTTGAGTATCGGAACCAAGGTGAGAAAATGAAATTTTGGGAGAAGTGGACTATCTGGGTTCAAATCCTGGTTGACTGTGATGTTGGGTAAGTTACTTATCTTTGTACATCAGTGTCTTTCATCTGTGAGAACACTTGCCTTGTCTCCCAAGTTTGCCATAATTAAATGGGAAACACGTAAAGCATTCAGCATAGTGCTGGCACTCAGACGTTTACTAGTTCTTAGGAGCTCCCTCCATTTGTGCAGGAGATGAAGAAGGCACAGAGATAGATACTCTACAGTTTCGTCTCCAGGTCAGATGCACTCGGAACCCCCATGCTGCTAAAGATTCCTCTGACCCCAACGAACTGTACGTGAACCACAAAGGTGAGTAGTGGTAGGGTGAGGAAGAGGCCCCACCTGTGGGTAGCTGCTAGTTTTAGGGACTGAGATCTTCTGACATGTTTTTCCTCCAGTGTATACCAGGCATATGACATGGATCCCCCTGGGGAACCAGGCTGATCTCTTTCCAGAGGGCACTATCCGACCAGTGCATGATGATATCCTCATCGCTCAGCTGCGGCCTGGCCAAGAAATTGACCTGCTCATGCACTGTGTCAAGGGCATTGGTGAGAACCCTGTGTGCCTTCCTGGGAAGGGGGATAGTTCGGTTGCAGTGGGGCAAGCTGACTAGGGAACTCAGCTGAGACATTCCCGGCAGGTAGAAAGCCAAGAGGGTTGTGCTTTTGCTGTTAGTAGCTTAGGAGGAGTATTCTTCCTAACCCTAGAAGGGTTTCCTATAGGCACGTTCCCTCTTCCTCTCCAGGCAAAGATCATGCCAAGTTTTCACCAGTGGCAACAGCCAGTTACAGGCTCCTGCCAGACATCACCCTGCTTGAGCCCGTGGAAGGGGAGGCAGCTGAGGAGTTGAGCAGGTGCTTCTCACCTGGTGTTATTGAGGTGCAGGAAGTCCAAGGTATGGTATTTGGGATGCTGTTCAAGTTAGGACCTAAATTATATTTTCTTTCAAGGTGACAGAAATAAAAACCCTGGGCTCCTAAAAGTATAACCTGGTTTGCTACCAAGTGGCAAATTAGAAAAAGGAATAAAAAAACATGGTTTGTTCTCATTAGGTAAAAAGGTGGCCAGAGTTGCCAACCCCCGGCTGGATACCTTCAGCAGAGAAATCTTCCGGAATGAGAAGCTAAAGAAGGTTGTGAGGCTTGCCCGGGTTCGAGATCATTATATCTGTGAGTATGAAGTGGTGAGATGAGTGGGCAGTGCTCTTTGGTGCTGCAGCTTCCTTCCAGTCTAGATGTGAAGTTTATGAGTAAGTTTTACAGGCAAGCCCTGCCTAGACTAAAGTGTCTCTTTGGTCCCCAGTCTCTGTTGAGTCAACGGGGGTGTTGCCACCAGATGTGCTGGTGAGTGAAGCCATCAAAGTACTGATGGGGAAGTGCCGGCGCTTCTTGGATGAACTAGATGCGGTTCAGATGGACTGAGCTTGGATGCTTCTGAGGCAAGCTGAAGCTTTGGGTTCTGACTGACCCACCCTACAGGACTGCTGAACAGAGAGCCCAGTGTGACTAGGGATCCTGAGTTTTCTGGGACAATTCCAGCTTTAATCAATACATTTTGTTAAATGTGCCATAAAATGAGACTTTTTACGCCTTTATAAGGCCTTAGATGTAAATAAACTCACCCAAACAAAAAAACTTTTTGAGACTACTTTTGAGTTTGTTTTTTGAGACAGTCTCACTGTGTTGCCCAGGCTGGAGTGCAGTGGTGCAATCTCAGCTCACTGCAGCTTCCTCCTGGGTTCAAGCAATTCTCAGGAGGCTGAGGCAAGAGTAGCTGATGCTACAGGCATGCACCACCACACCTAGCTATATGTCTAATTTTTTGTATTTTTAGTAGAGACAGGGTTTCACCATGTTGGTCAGGCTGGTGTCAAACTCCTGACCTCAAGTGATACGCCTGCCTTGGGGCCTCCCAAAGTGTTGGGATTACAGGTGTGAGCCACCGCGAAAAACAGGGGGCCTCACTTCAGAACTGGTTTAGCATTTACCAATTAAGAACATCAGATGTGCACTCCAGCCCGGGTAACAGTGAGACCCTGTTTCAAAAACAACAGAAAGAACACCTCCTGAGAATTGGCAAATTAAGGTGGTTTCTGGGAGCACAGCCAAACCCTAGAAAAACATTCAAGCTAGAGTGAATGTGCCACTTCACCTATCTCCTGGTTTACCAGGGAAGTTCATGTTGCTATTGACAGCTCCAACAAAGAACAGTAGCAATTCCTGTGGGCCAGGCCCAGCAGCCACACACGAAAGACACTGTGAGAATGGTATGGGCTGCCTAGTCTGGGTATGTCAGGAATAGAAATCCTTTTCTAACTGGCACACCATTTCAGAAAGCTTGAAAGACCAGAATCATCAGTCACATTTCTTCCTGTTTTAGTCCCGGGTGCTCATGAAGTAACCCTGGAGTATGTCACTGGTTTTAAGACTAGGTTGAAAAAGGCAGATGGGTCCCTTTCTGTACGAAACTGAGATTTTTACTGACATGCAGATGTGCTTTAGAGTTAATGTTTCTACAAAAAGTTTCTATAAACAATAGAAAATTTCTAGCATGAAGTCACAGGATGTTAAAAATATTACAATGCAATAAATACAACTACATCCTCCACAGCCCCAACCAGACAGGAATAGGCAGCTATCAGGTTTGGAGGGAAACACTCTTGAGATCGCCTTCACGATCCACAGAAACCCAGAGCACCACACAGGAAGAGGGAGCAACACAAGACTCCCAACTTCTGCTTCCCCAGCTTTGCTTCTTCTCAATCTGACCCTGCCTGTGGCCCGCACCAGCTAAAAACTGTAGCTTCAGTCCACTTCGGCTCTCGGGGAAACCCTCTTGTCAGTGGACTGGATGGACAACAGGTCTGTTTTTGTGCAGAGCACATGGACACACTGGTTTCTGTATGGATTAACTCTGCCTTACGGCCAGTAATAACCTCAGGGCCAGGTCCCGTATCCATGTCCTCTCTTTACAGGGCCTTTCAGTGACCTCTAGAATGGACTCACAGTACAGGTTGTGATGTGAAGGCATGTATTCTTTTGGAAATGGCCTTTGAGAAAAGTAACCAGGGACCTGAAAGACCATGAGATTGTGGAAGGCACCTGGACTTAGTCCTAGGAGAAGACCAGC
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CTTGTGATCTGCCCGTCTCAGCCTCCCAGAGTGCTGGGATTACAGGTGTGAGTGACTGTGCCGGGCCAGGAGGGGGTTTTTTAATCAATGCCAAGCATAACAGAAGTCTAGTAAGAGGACTGAGTAGTGTCAACAAAACTAAGCACTATGGTAGTTTCTGTTCTTCAGTAGAATAGCTTCTGTGGATGGTTTGGTTGGAAGCCATATTGCATAGGGTTTTAATGAATGGACGACAAAAATGGAGACTTTTCATGAAACTTAAAACACTGGGCGAGATAGAATATTTAATAAGAGACATTTGGGCAAAGGGAGGTTTTTGGATGAGAGGATAATACTTGAGGGAATTATCTAAGGGGGAGGTATGAAGAGATATTACACAGAGAGCAGATTTCACTTAAATGTTTTTTCCTGTCCCTCTAGAATTTCCGTGTGGATGTAGTACACATGGATGAAAACTCACTGGAGTTTGACATGGTGGGAATTGACGCAGCCATTGCCAATGCTTTTCGACGAATTCTGCTAGCTGAGGTATTGGCAGGCATGGTGACAAGGCTGGAGTTGCTTTGGGAACTGCACTGACACCTCACTTGGAGAATTAAGTGTCTCAAGCTGTCCTTCCCTCCTTAATTTTCCTGGAATTTTGCTGAGCATTTTACCTTCTCATTCTTTGTAAATTTCTCATTAAACATTCTAGGAAGAGAGATAGCTCCCTACCTCTGGAGGTTGGGGTTACGGGGATAGGTAGGGGGTCTGTTGGGTTTTTGCAGATAAGTGGTTATTTTTCCTTGGGCAGGTGCCAACTATGGCTGTGGAGAAGGTCCTGGTGTACAATAATACATCCATTGTTCAGGATGAGATTCTTGCTCACCGTCTGGGGCTCATTCCCATTCATGCTGATCCCCGTCTTTTTGAGTATCGGAACCAAGGTGAGAAAATGAAATTTTGGGAGAAGTGGACTATCTGGGTTCAAATCCTGGTTGACTGTGATGTTGGGTAAGTTACTTATCTTTGTACATCAGTGTCTTTCATCTGTGAGAACACTTGCCTTGTCTCCCAAGTTTGCCATAATTAAATGGGAAACACGTAAAGCATTCAGCATAGTGCTGGCACTCAGACGTTTACTAGTTCTTAGGAGCTCCCTCCATTTGTGCAGGAGATGAAGAAGGCACAGAGATAGATACTCTACAGTTTCGTCTCCAGGTCAGATGCACTCGGAACCCCCATGCTGCTAAAGATTCCTCTGACCCCAACGAACTGTACGTGAACCACAAAGGTGAGTAGTGGTAGGGTGAGGAAGAGGCCCCACCTGTGGGTAGCTGCTAGTTTTAGGGACTGAGATCTTCTGACATGTTTTTCCTCCAGTGTATACCAGGCATATGACATGGATCCCCCTGGGGAACCAGGCTGATCTCTTTCCAGAGGGCACTATCCGACCAGTGCATGATGATATCCTCATCGCTCAGCTGCGGCCTGGCCAAGAAATTGACCTGCTCATGCACTGTGTCAAGGGCATTGGTGAGAACCCTGTGTGCCTTCCTGGGAAGGGGGATAGTTCGGTTGCAGTGGGGCAAGCTGACTAGGGAACTCAGCTGAGACATTCCCGGCAGGTAGAAAGCCAAGAGGGTTGTGCTTTTGCTGTTAGTAGCTTAGGAGGAGTATTCTTCCTAACCCTAGAAGGGTTTCCTATAGGCACGTTCCCTCTTCCTCTCCAGGCAAAGATCATGCCAAGTTTTCACCAGTGGCAACAGCCAGTTACAGGCTCCTGCCAGACATCACCCTGCTTGAGCCCGTGGAAGGGGAGGCAGCTGAGGAGTTGAGCAGGTGCTTCTCACCTGGTGTTATTGAGGTGCAGGAAGTCCAAGGTATGGTATTTGGGATGCTGTTCAAGTTAGGACCTAAATTATATTTTCTTTCAAGGTGACAGAAATAAAAACCCTGGGCTCCTAAAAGTATAACCTGGTTTGCTACCAAGTGGCAAATTAGAAAAAGGAATAAAAAAACATGGTTTGTTCTCATTAGGTAAAAAGGTGGCCAGAGTTGCCAACCCCTGGCTGGATACCTTCAGCAGAGAAATCTTCCGGAATGAGAAGCTAAAGAAGGTTGTGAGGCTTGCCCGGGTTCGAGATCATTATATCTGTGAGTATGAAGTGGTGAGATGAGTGGGCAGTGCTCTTTGGTGCTGCAGCTTCCTTCCAGTCTAGATGTGAAGTTTATGAGTAAGTTTTACAGGCAAGCCCTGCCTAGACTAAAGTGTCTCTTTGGTCCCCAGTCTCTGTTGAGTCAACGGGGGTGTTGCCACCAGATGTGCTGGTGAGTGAAGCCATCAAAGTACTGATGGGGAAGTGCCGGCGCTTCTTGGATGAACTAGATGCGGTTCAGATGGACTGAGCTTGGATGCTTCTGAGGCAAGCTGAAGCTTTGGGTTCTGACTGACCCACCCTACAGGACTGCTGAACAGAGAGCCCAGTGTGACTAGGGATCCTGAGTTTTCTGGGACAATTCCAGCTTTAATCAATACATTTTGTTAAATGTGCCATAAAATGAGACTTTTTACGCCTTTATAAGGCCTTAGATGTAAATAAACTCACCCAAACAAAAAAACTTTTTGAGACTACTTTTGAGTTTGTTTTTTGAGACAGTCTCACTGTGTTGCCCAGGCTGGAGTGCAGTGGTGCAATCTCAGCTCACTGCAGCTTCCTCCTGGGTTCAAGCAATTCTCAGGAGGCTGAGGCAAGAGTAGCTGATGCTACAGGCATGCACCACCACACCTAGCTATATGTCTAATTTTTTGTATTTTTAGTAGAGACAGGGTTTCACCATGTTGGTCAGGCTGGTGTCAAACTCCTGACCTCAAGTGATACGCCTGCCTTGGGGCCTCCCAAAGTGTTGGGATTACAGGTGTGAGCCACCGCGAAAAACAGGGGGCCTCACTTCAGAACTGGTTTAGCATTTACCAATTAAGAACATCAGATGTGCACTCCAGCCCGGGTAACAGTGAGACCCTGTTTCAAAAACAACAGAAAGAACACCTCCTGAGAATTGGCAAATTAAGGTGGTTTCTGGGAGCACAGCCAAACCCTAGAAAAACATTCAAGCTAGAGTGAATGTGCCACTTCACCTATCTCCTGGTTTACCAGGGAAGTTCATGTTGCTATTGACAGCTCCAACAAAGAACAGTAGCAATTCCTGTGGGCCAGGCCCAGCAGCCACACACGAAAGACACTGTGAGAATGGTATGGGCTGCCTAGTCTGGGTATGTCAGGAATAGAAATCCTTTTCTAACTGGCACACCATTTCAGAAAGCTTGAAAGACCAGAATCATCAGTCACATTTCTTCCTGTTTTAGTCCCGGGTGCTCATGAAGTAACCCTGGAGTATGTCACTGGTTTTAAGACTAGGTTGAAAAAGGCAGATGGGTCCCTTTCTGTACGAAACTGAGATTTTTACTGACATGCAGATGTGCTTTAGAGTTAATGTTTCTACAAAAAGTTTCTATAAACAATAGAAAATTTCTAGCATGAAGTCACAGGATGTTAAAAATATTACAATGCAATAAATACAACTACATCCTCCACAGCCCCAACCAGACAGGAATAGGCAGCTATCAGGTTTGGAGGGAAACACTCTTGAGATCGCCTTCACGATCCACAGAAACCCAGAGCACCACACAGGAAGAGGGAGCAACACAAGACTCCCAACTTCTGCTTCCCCAGCTTTGCTTCTTCTCAATCTGACCCTGCCTGTGGCCCGCACCAGCTAAAAACTGTAGCTTCAGTCCACTTCGGCTCTCGGGGAAACCCTCTTGTCAGTGGACTGGATGGACAACAGGTCTGTTTTTGTGCAGAGCACATGGACACACTGGTTTCTGTATGGATTAACTCTGCCTTACGGCCAGTAATAACCTCAGGGCCAGGTCCCGTATCCATGTCCTCTCTTTACAGGGCCTTTCAGTGACCTCTAGAATGGACTCACAGTACAGGTTGTGATGTGAAGGCATGTATTCTTTTGGAAATGGCCTTTGAGAAAAGTAACCAGGGACCTGAAAGACCATGAGATTGTGGAAGGCACCTGGACTTAGTCCTAGGAGAAGACCAGC
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Task1_train_10385
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The gene POLR1C (RNA polymerase I and III subunit C) on Chromosome 6 contains a mutation. Based on this information, is the variant pathogenic or benign? Provide the disease if relevant.
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Pathogenic; Hypomyelinating leukodystrophy 11
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GGGCGAGATAGAATATTTAATAAGAGACATTTGGGCAAAGGGAGGTTTTTGGATGAGAGGATAATACTTGAGGGAATTATCTAAGGGGGAGGTATGAAGAGATATTACACAGAGAGCAGATTTCACTTAAATGTTTTTTCCTGTCCCTCTAGAATTTCCGTGTGGATGTAGTACACATGGATGAAAACTCACTGGAGTTTGACATGGTGGGAATTGACGCAGCCATTGCCAATGCTTTTCGACGAATTCTGCTAGCTGAGGTATTGGCAGGCATGGTGACAAGGCTGGAGTTGCTTTGGGAACTGCACTGACACCTCACTTGGAGAATTAAGTGTCTCAAGCTGTCCTTCCCTCCTTAATTTTCCTGGAATTTTGCTGAGCATTTTACCTTCTCATTCTTTGTAAATTTCTCATTAAACATTCTAGGAAGAGAGATAGCTCCCTACCTCTGGAGGTTGGGGTTACGGGGATAGGTAGGGGGTCTGTTGGGTTTTTGCAGATAAGTGGTTATTTTTCCTTGGGCAGGTGCCAACTATGGCTGTGGAGAAGGTCCTGGTGTACAATAATACATCCATTGTTCAGGATGAGATTCTTGCTCACCGTCTGGGGCTCATTCCCATTCATGCTGATCCCCGTCTTTTTGAGTATCGGAACCAAGGTGAGAAAATGAAATTTTGGGAGAAGTGGACTATCTGGGTTCAAATCCTGGTTGACTGTGATGTTGGGTAAGTTACTTATCTTTGTACATCAGTGTCTTTCATCTGTGAGAACACTTGCCTTGTCTCCCAAGTTTGCCATAATTAAATGGGAAACACGTAAAGCATTCAGCATAGTGCTGGCACTCAGACGTTTACTAGTTCTTAGGAGCTCCCTCCATTTGTGCAGGAGATGAAGAAGGCACAGAGATAGATACTCTACAGTTTCGTCTCCAGGTCAGATGCACTCGGAACCCCCATGCTGCTAAAGATTCCTCTGACCCCAACGAACTGTACGTGAACCACAAAGGTGAGTAGTGGTAGGGTGAGGAAGAGGCCCCACCTGTGGGTAGCTGCTAGTTTTAGGGACTGAGATCTTCTGACATGTTTTTCCTCCAGTGTATACCAGGCATATGACATGGATCCCCCTGGGGAACCAGGCTGATCTCTTTCCAGAGGGCACTATCCGACCAGTGCATGATGATATCCTCATCGCTCAGCTGCGGCCTGGCCAAGAAATTGACCTGCTCATGCACTGTGTCAAGGGCATTGGTGAGAACCCTGTGTGCCTTCCTGGGAAGGGGGATAGTTCGGTTGCAGTGGGGCAAGCTGACTAGGGAACTCAGCTGAGACATTCCCGGCAGGTAGAAAGCCAAGAGGGTTGTGCTTTTGCTGTTAGTAGCTTAGGAGGAGTATTCTTCCTAACCCTAGAAGGGTTTCCTATAGGCACGTTCCCTCTTCCTCTCCAGGCAAAGATCATGCCAAGTTTTCACCAGTGGCAACAGCCAGTTACAGGCTCCTGCCAGACATCACCCTGCTTGAGCCCGTGGAAGGGGAGGCAGCTGAGGAGTTGAGCAGGTGCTTCTCACCTGGTGTTATTGAGGTGCAGGAAGTCCAAGGTATGGTATTTGGGATGCTGTTCAAGTTAGGACCTAAATTATATTTTCTTTCAAGGTGACAGAAATAAAAACCCTGGGCTCCTAAAAGTATAACCTGGTTTGCTACCAAGTGGCAAATTAGAAAAAGGAATAAAAAAACATGGTTTGTTCTCATTAGGTAAAAAGGTGGCCAGAGTTGCCAACCCCCGGCTGGATACCTTCAGCAGAGAAATCTTCCGGAATGAGAAGCTAAAGAAGGTTGTGAGGCTTGCCCGGGTTCGAGATCATTATATCTGTGAGTATGAAGTGGTGAGATGAGTGGGCAGTGCTCTTTGGTGCTGCAGCTTCCTTCCAGTCTAGATGTGAAGTTTATGAGTAAGTTTTACAGGCAAGCCCTGCCTAGACTAAAGTGTCTCTTTGGTCCCCAGTCTCTGTTGAGTCAACGGGGGTGTTGCCACCAGATGTGCTGGTGAGTGAAGCCATCAAAGTACTGATGGGGAAGTGCCGGCGCTTCTTGGATGAACTAGATGCGGTTCAGATGGACTGAGCTTGGATGCTTCTGAGGCAAGCTGAAGCTTTGGGTTCTGACTGACCCACCCTACAGGACTGCTGAACAGAGAGCCCAGTGTGACTAGGGATCCTGAGTTTTCTGGGACAATTCCAGCTTTAATCAATACATTTTGTTAAATGTGCCATAAAATGAGACTTTTTACGCCTTTATAAGGCCTTAGATGTAAATAAACTCACCCAAACAAAAAAACTTTTTGAGACTACTTTTGAGTTTGTTTTTTGAGACAGTCTCACTGTGTTGCCCAGGCTGGAGTGCAGTGGTGCAATCTCAGCTCACTGCAGCTTCCTCCTGGGTTCAAGCAATTCTCAGGAGGCTGAGGCAAGAGTAGCTGATGCTACAGGCATGCACCACCACACCTAGCTATATGTCTAATTTTTTGTATTTTTAGTAGAGACAGGGTTTCACCATGTTGGTCAGGCTGGTGTCAAACTCCTGACCTCAAGTGATACGCCTGCCTTGGGGCCTCCCAAAGTGTTGGGATTACAGGTGTGAGCCACCGCGAAAAACAGGGGGCCTCACTTCAGAACTGGTTTAGCATTTACCAATTAAGAACATCAGATGTGCACTCCAGCCCGGGTAACAGTGAGACCCTGTTTCAAAAACAACAGAAAGAACACCTCCTGAGAATTGGCAAATTAAGGTGGTTTCTGGGAGCACAGCCAAACCCTAGAAAAACATTCAAGCTAGAGTGAATGTGCCACTTCACCTATCTCCTGGTTTACCAGGGAAGTTCATGTTGCTATTGACAGCTCCAACAAAGAACAGTAGCAATTCCTGTGGGCCAGGCCCAGCAGCCACACACGAAAGACACTGTGAGAATGGTATGGGCTGCCTAGTCTGGGTATGTCAGGAATAGAAATCCTTTTCTAACTGGCACACCATTTCAGAAAGCTTGAAAGACCAGAATCATCAGTCACATTTCTTCCTGTTTTAGTCCCGGGTGCTCATGAAGTAACCCTGGAGTATGTCACTGGTTTTAAGACTAGGTTGAAAAAGGCAGATGGGTCCCTTTCTGTACGAAACTGAGATTTTTACTGACATGCAGATGTGCTTTAGAGTTAATGTTTCTACAAAAAGTTTCTATAAACAATAGAAAATTTCTAGCATGAAGTCACAGGATGTTAAAAATATTACAATGCAATAAATACAACTACATCCTCCACAGCCCCAACCAGACAGGAATAGGCAGCTATCAGGTTTGGAGGGAAACACTCTTGAGATCGCCTTCACGATCCACAGAAACCCAGAGCACCACACAGGAAGAGGGAGCAACACAAGACTCCCAACTTCTGCTTCCCCAGCTTTGCTTCTTCTCAATCTGACCCTGCCTGTGGCCCGCACCAGCTAAAAACTGTAGCTTCAGTCCACTTCGGCTCTCGGGGAAACCCTCTTGTCAGTGGACTGGATGGACAACAGGTCTGTTTTTGTGCAGAGCACATGGACACACTGGTTTCTGTATGGATTAACTCTGCCTTACGGCCAGTAATAACCTCAGGGCCAGGTCCCGTATCCATGTCCTCTCTTTACAGGGCCTTTCAGTGACCTCTAGAATGGACTCACAGTACAGGTTGTGATGTGAAGGCATGTATTCTTTTGGAAATGGCCTTTGAGAAAAGTAACCAGGGACCTGAAAGACCATGAGATTGTGGAAGGCACCTGGACTTAGTCCTAGGAGAAGACCAGCGGCTTTGCTAGCTGCTCATCACAGATGTAGCCTAGTTGGTCTGTATTATCCTTGGATGACAACGGTGTCATGTGACACTATCTAGGGTACTGTGGCTCTTGTGCCTGAGTGGACCTTGAGGCTGGGGAGGCCAGACTGAGGGGTCATTCATGGAAGGGCAAGATGTGTGAACTCTAAAGGGGATGTTAGCACTAAAGACTTCCCAGCCCTGGTCCTTGGAGGTACTATACTTGATACTGTGCCAAGTTTAGCAGTAGCCTGTACCATG
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GGGCGAGATAGAATATTTAATAAGAGACATTTGGGCAAAGGGAGGTTTTTGGATGAGAGGATAATACTTGAGGGAATTATCTAAGGGGGAGGTATGAAGAGATATTACACAGAGAGCAGATTTCACTTAAATGTTTTTTCCTGTCCCTCTAGAATTTCCGTGTGGATGTAGTACACATGGATGAAAACTCACTGGAGTTTGACATGGTGGGAATTGACGCAGCCATTGCCAATGCTTTTCGACGAATTCTGCTAGCTGAGGTATTGGCAGGCATGGTGACAAGGCTGGAGTTGCTTTGGGAACTGCACTGACACCTCACTTGGAGAATTAAGTGTCTCAAGCTGTCCTTCCCTCCTTAATTTTCCTGGAATTTTGCTGAGCATTTTACCTTCTCATTCTTTGTAAATTTCTCATTAAACATTCTAGGAAGAGAGATAGCTCCCTACCTCTGGAGGTTGGGGTTACGGGGATAGGTAGGGGGTCTGTTGGGTTTTTGCAGATAAGTGGTTATTTTTCCTTGGGCAGGTGCCAACTATGGCTGTGGAGAAGGTCCTGGTGTACAATAATACATCCATTGTTCAGGATGAGATTCTTGCTCACCGTCTGGGGCTCATTCCCATTCATGCTGATCCCCGTCTTTTTGAGTATCGGAACCAAGGTGAGAAAATGAAATTTTGGGAGAAGTGGACTATCTGGGTTCAAATCCTGGTTGACTGTGATGTTGGGTAAGTTACTTATCTTTGTACATCAGTGTCTTTCATCTGTGAGAACACTTGCCTTGTCTCCCAAGTTTGCCATAATTAAATGGGAAACACGTAAAGCATTCAGCATAGTGCTGGCACTCAGACGTTTACTAGTTCTTAGGAGCTCCCTCCATTTGTGCAGGAGATGAAGAAGGCACAGAGATAGATACTCTACAGTTTCGTCTCCAGGTCAGATGCACTCGGAACCCCCATGCTGCTAAAGATTCCTCTGACCCCAACGAACTGTACGTGAACCACAAAGGTGAGTAGTGGTAGGGTGAGGAAGAGGCCCCACCTGTGGGTAGCTGCTAGTTTTAGGGACTGAGATCTTCTGACATGTTTTTCCTCCAGTGTATACCAGGCATATGACATGGATCCCCCTGGGGAACCAGGCTGATCTCTTTCCAGAGGGCACTATCCGACCAGTGCATGATGATATCCTCATCGCTCAGCTGCGGCCTGGCCAAGAAATTGACCTGCTCATGCACTGTGTCAAGGGCATTGGTGAGAACCCTGTGTGCCTTCCTGGGAAGGGGGATAGTTCGGTTGCAGTGGGGCAAGCTGACTAGGGAACTCAGCTGAGACATTCCCGGCAGGTAGAAAGCCAAGAGGGTTGTGCTTTTGCTGTTAGTAGCTTAGGAGGAGTATTCTTCCTAACCCTAGAAGGGTTTCCTATAGGCACGTTCCCTCTTCCTCTCCAGGCAAAGATCATGCCAAGTTTTCACCAGTGGCAACAGCCAGTTACAGGCTCCTGCCAGACATCACCCTGCTTGAGCCCGTGGAAGGGGAGGCAGCTGAGGAGTTGAGCAGGTGCTTCTCACCTGGTGTTATTGAGGTGCAGGAAGTCCAAGGTATGGTATTTGGGATGCTGTTCAAGTTAGGACCTAAATTATATTTTCTTTCAAGGTGACAGAAATAAAAACCCTGGGCTCCTAAAAGTATAACCTGGTTTGCTACCAAGTGGCAAATTAGAAAAAGGAATAAAAAAACATGGTTTGTTCTCATTAGGTAAAAAGGTGGCCAGAGTTGCCAACCCCCGGCTGGATACCTTCAGCAGAGAAATCTTCCGGAATGAGAAGCTAAAGAAGGTTGTGAGGCTTGCCCGGGTTCGAGATCATTATATCTGTGAGTATGAAGTGGTGAGATGAGTGGGCAGTGCTCTTTGGTGCTGCAGCTTCCTTCCAGTCTAGATGTGAAGTTTATGAGTAAGTTTTACAGGCAAGCCCTGCCTAGACTAAAGTGTCTCTTTGGTCCCCAGTCTCTGTTGAGTCAACGGGGGTGTTGCCACCAGATGTGCTGGTGAGTAAAGCCATCAAAGTACTGATGGGGAAGTGCCGGCGCTTCTTGGATGAACTAGATGCGGTTCAGATGGACTGAGCTTGGATGCTTCTGAGGCAAGCTGAAGCTTTGGGTTCTGACTGACCCACCCTACAGGACTGCTGAACAGAGAGCCCAGTGTGACTAGGGATCCTGAGTTTTCTGGGACAATTCCAGCTTTAATCAATACATTTTGTTAAATGTGCCATAAAATGAGACTTTTTACGCCTTTATAAGGCCTTAGATGTAAATAAACTCACCCAAACAAAAAAACTTTTTGAGACTACTTTTGAGTTTGTTTTTTGAGACAGTCTCACTGTGTTGCCCAGGCTGGAGTGCAGTGGTGCAATCTCAGCTCACTGCAGCTTCCTCCTGGGTTCAAGCAATTCTCAGGAGGCTGAGGCAAGAGTAGCTGATGCTACAGGCATGCACCACCACACCTAGCTATATGTCTAATTTTTTGTATTTTTAGTAGAGACAGGGTTTCACCATGTTGGTCAGGCTGGTGTCAAACTCCTGACCTCAAGTGATACGCCTGCCTTGGGGCCTCCCAAAGTGTTGGGATTACAGGTGTGAGCCACCGCGAAAAACAGGGGGCCTCACTTCAGAACTGGTTTAGCATTTACCAATTAAGAACATCAGATGTGCACTCCAGCCCGGGTAACAGTGAGACCCTGTTTCAAAAACAACAGAAAGAACACCTCCTGAGAATTGGCAAATTAAGGTGGTTTCTGGGAGCACAGCCAAACCCTAGAAAAACATTCAAGCTAGAGTGAATGTGCCACTTCACCTATCTCCTGGTTTACCAGGGAAGTTCATGTTGCTATTGACAGCTCCAACAAAGAACAGTAGCAATTCCTGTGGGCCAGGCCCAGCAGCCACACACGAAAGACACTGTGAGAATGGTATGGGCTGCCTAGTCTGGGTATGTCAGGAATAGAAATCCTTTTCTAACTGGCACACCATTTCAGAAAGCTTGAAAGACCAGAATCATCAGTCACATTTCTTCCTGTTTTAGTCCCGGGTGCTCATGAAGTAACCCTGGAGTATGTCACTGGTTTTAAGACTAGGTTGAAAAAGGCAGATGGGTCCCTTTCTGTACGAAACTGAGATTTTTACTGACATGCAGATGTGCTTTAGAGTTAATGTTTCTACAAAAAGTTTCTATAAACAATAGAAAATTTCTAGCATGAAGTCACAGGATGTTAAAAATATTACAATGCAATAAATACAACTACATCCTCCACAGCCCCAACCAGACAGGAATAGGCAGCTATCAGGTTTGGAGGGAAACACTCTTGAGATCGCCTTCACGATCCACAGAAACCCAGAGCACCACACAGGAAGAGGGAGCAACACAAGACTCCCAACTTCTGCTTCCCCAGCTTTGCTTCTTCTCAATCTGACCCTGCCTGTGGCCCGCACCAGCTAAAAACTGTAGCTTCAGTCCACTTCGGCTCTCGGGGAAACCCTCTTGTCAGTGGACTGGATGGACAACAGGTCTGTTTTTGTGCAGAGCACATGGACACACTGGTTTCTGTATGGATTAACTCTGCCTTACGGCCAGTAATAACCTCAGGGCCAGGTCCCGTATCCATGTCCTCTCTTTACAGGGCCTTTCAGTGACCTCTAGAATGGACTCACAGTACAGGTTGTGATGTGAAGGCATGTATTCTTTTGGAAATGGCCTTTGAGAAAAGTAACCAGGGACCTGAAAGACCATGAGATTGTGGAAGGCACCTGGACTTAGTCCTAGGAGAAGACCAGCGGCTTTGCTAGCTGCTCATCACAGATGTAGCCTAGTTGGTCTGTATTATCCTTGGATGACAACGGTGTCATGTGACACTATCTAGGGTACTGTGGCTCTTGTGCCTGAGTGGACCTTGAGGCTGGGGAGGCCAGACTGAGGGGTCATTCATGGAAGGGCAAGATGTGTGAACTCTAAAGGGGATGTTAGCACTAAAGACTTCCCAGCCCTGGTCCTTGGAGGTACTATACTTGATACTGTGCCAAGTTTAGCAGTAGCCTGTACCATG
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Task1_train_10386
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Here’s a variant in RSPH9 (radial spoke head component 9) located on Chromosome 6. What is the predicted biological effect — harmless or disease-causing?
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Pathogenic; Primary ciliary dyskinesia
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ACCAGTAATTAGATCGGAACAAAACAGGATAGGGATTTTCACAGTGCTTTTCTATACAATGTCTGTAATCTATAGATAACCGATTAGGTCAGGGGTCGATCTTTAACTACCAGGCCCGGGGCGCGGTGCTGGGCTGTCTGCCCGTGGATTTCATTTCTGCCTTTTAGTTTTTACTTCTTTGTAGGCAGAAATTGGCATAAGACAATATGAGGGGTGGTCTCCTCCCTTACTGCCAGCCAGAATTTTGACTGTTTTTCTGTTTAATGCTATTATAGAAGAGAGATTGAGCCGTATCTCCCGCTCAGGGAAAGGAAAGGCTGAGAGGTCTGCCTAAAGGGAGTGGGGGTGGTTGTGAACAAGAGAGCCATAAATTGTTTTGAGATAACACATTAAGCCAAATCAACTCCCTCAAATACTAATTTTATTTATTTATTTAGTTAGTTAGTTGTATTTTTTGAGACAGGCTCGCTCTGTTGCCCAGGCTGCAGTGCGGTAGCATGATCTTGGCTCACTGCAATCTCTGCCTCCCAGGTTCAAGCCATTCTCCTGCCCCAGCCTCCCGAGTAGCTGGGATTACAGCTGTGGGCCACCAAGCCCGGCTGTTTTGTATTTTTAGTAGAGACAGGGTTTCACCATGTTGGTCAGGCTGATCTCATAACAATGCCTTCCTAAACAATGCCTAAGCCTGGGCGTGGTGGTTCACACCTGTAATCCCAGCACTTTGGGAGGCTCAGGTGAGTGGATCACTTGAGCTCGGAGTTCAACACCAGCCTGGCCAACATGGCAAAACCCCGTCTCTACTAAAAATACAAAAAATATTGGGTGTGGTGGCACACACCTGTAGTCCCAGCTACCTGGGGGGCTGAGGTGGGAAGATCACTTGAGCCCAGGAGGTTGAGGCTGCAGTGAGCTGAGATCACACACCACTACACTCCAGCCTGGGTGACAAAGTGAGACCCTGTCTCAACCCCCGAAAACCAACAATGCCCAGACAATCAAAAAAGTAATTATCTGGGTTATTTACACACTTATTTATCAGCTGGGGCCCAGGTCATTCTGATTTCCTGAGTGCTCTTCAAAGGAATCCAGAAATGAAAATATCAACTAGCAACATTAACGATAAAGCCCATCTCCTGTGGCAACAAGCTTGCTGAGGAACCTGTTTGTTTGTCCTTGGCTGGGGACTCAAGAAGTGAATGTGGAGAAGTGATCTAGCCCAGGGAGTGAAGCTCCAGTTGCAGTGAGGTTCTGGCCTTTCATCTCTTGCTACCATTTGGATCTAAAAACAACAGTTGGTGGTAGTTGGTAGTTGATGAGAAAGGTGGTAGTTGATGAGAAAGTGTAGTCTATAAAAGTCCCCCTTTTTGTATCTCTCTCCTCACCCTCCTTTCCCAAGGTGTTACCCTATACCTTGCCCCCATTGCCTAGATTTTCATTTGTCACTTAGAATATTTCTATGGAAAGGGTAGATAAAGAAGACAGCTGGTGAAGATGGAAGAGAATGGATGGACCTCATTCTGTAAGACCTGGCTTGGGGTGGGGTGCGGGTGGAGGTAGTCGGGTTGACAGAATCTTAATTAGAGCCAGGAGGAATCTCAAATTCTTCACAGATCATTCTGAGGTCAAGAAGTGACATGACTGGGGTGAAATAGTACAGTTAGTGTCAGTGTTGGGGTTTTGTATTGTTTTCTTTCCAGACCCCAGGTCCATATACAGTAAAGACTCTAAATGTCGACTATGTGAAAGGGCTCAGGGAAGGCCAAATATCTATGGAAAAAGGCTGGGTTTGGACTTACAACCCCAACTGTAGCCTAACTGTAGGGGAAGCCATACTGTGGCCGTGGCAACTGAAGACATCCCGTCCCAAACTCTGGAAAGGATGAGGGAGGGGGCTGATGCCTAGGCCTCCGTGGGGAGGAGGTCTGGGCGGTAGGCGGTGGGGTGGGTGGAACCTAGCGTCCAGCTAGGCGGAAGGGCGGAGCTTCAGGTCTCCATGGAGGCGGCTTCTCCTAGCAACTCGACGGGCGTTGAGCGGAGCCGCTGACCTGATGGACGCCGACAGCCTCCTGCTGTCTCTGGAGCTGGCGTCCGGCAGTGGGCAGGGCCTCAGCCCGGACCGTCGGGCCTCGCTGCTCACGTCTCTTATGCTGGTTAAGCGCGACTACCGCTATGATCGGGTTCTCTTCTGGGGCCGCATCCTTGGCCTCGTCGCCGATTACTACATCGCGCAGGGCCTGAGTGAGGACCAGCTCGCACCGCGCAAGACGCTCTATAGGTGAGGAGGCCCCCGGGACGGGCTCCCCAGAGGGTGGCTACCTGGAGGCAGGGCGGGGTGGGCGGGTCGCAGCAATTGAAAGGGGCGGGGCCCATGGGGCCAAGGGAGGTGTGGGCGGGATCTGAGATGAGTGGAATGGGGGAGACCCTGGGGGGCGGGCCTGGGGACGGTCAAGAGGTGGTTGAGGGAAAGGGCGGGGATGGGGATGTCTCGGAATCTGAGGCTAGGGCGGAGCCTGAGAGGGCGGGGCAATGGACGGGCGATGTCCCCCGGAGGGCGGGGCCTTGCGAGAGCTTGTTCTCCGCCTGAGGAGGCCAAGAGAAACTTACATGCGGATGGGTTTATAAGAGAGACAGGGCCAAGAACGCAGGTGAAGCAGTGGGAAGGTTTCTGGAAAATGCGGACCTGGAGAAGAAGCCAGGTTCCAGCCAAGTGCTGGGCCTGGCTCAGTTTGGAGAAGGCTCAGTTTGGAGAAGAGTCAGACGCCAGAGGGAGAGGGTGGTGCTCTTTGATAGAGGTATCTGCTCTGGAGCTGGAGGCGCTTTTGGAAATAGAGAACGAATGCGGAATGGGGAGAGAGCTGGGGAAAATTCCCTGGTCACTACCATACAGGACCATCCAGCTATTTATTTATTTATTTTTGTTTTGAGGCAGAGTCTTGCTCTGTCACCCAGGCTGGAGTGCAGTGTCGCTATCTTGGTTCACTGCAACCTCCGCCTCCCGGATTCAAGCGATTTTCCTGCCTCAGCCTCCCAAATAGCTGGGATTACAGGCACGTGCCACCACACCTGGCTATTTATTTATTATTATTATTATTATTATTTTAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCTCGATCTCGGCTCACTGCAAGCTCCGCCTCCTGGGTTCACGCCATTCTCCTCCCTCAGCCTCCCGAGTGGCTGGGACTACAGGCGCCCGCCACCATGCCCGGTTAATTTTTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCGTGTTAGCTAGGATGGTCTCGATCTCCTGACCTCGTGATCCGTCCGCCTCAGCCTCCCAAAGTGCTGGGATCACCCACCGCGCTTGGCAATTATTTATTTATTTATTATTTTTGTAATTTTAATAGAGACAGGGTTTCACTATGCTGGTTAGGCTGGTCTCGAACTCCTGGCCTCAAGTAATCCACCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCATGCCCGGCCAGCCTCTTTTTGACTAAAGGGGAGCTTACTACCTTACAAAGCAGTCCATTCGGCCAGCCTGGGCAATATAGCAAGACCTCATCACTACAAAAAAAAAAAAAAAAGGCAGGGTGTGGTGGCTCACGCCTTTAATCCCAGCACTTTGGGAGGCAGAGTTGGGCGGATCACGAGGTCAGGAGATTGAGACCATCCTGGCTAACGCGGTGAAACACTACTGAAAATACGAAAAATTAGACGGGCGTGGTGGCGGGCGCCTGTAGTCCTAGCTACTCGGGAGGCTGAGGCAGAAGAATCACTTGAATCTGGGAGGCGGAGGTTGCAGTGAGCTGGCATCATGCCACGCACTCCAGCCTGGGTGACAGAGTGAGACTCCGTCTCAAAAAAAAAAAAAGAAAAAAAAAAAGGAAAATTTGCAGGGCATGGTGGTGCATACCTGTAGTCCCAGCTACTCGGTAGGCTGAGGTGGGAGGATTGCGCCCGAGAGTTCAAAGCTGCAGTTAACTATGGATCACTACTGCGCTCCAGCCTGGTGACAGAGCGAGACCCTGTCTCAAAACAAATAAATAAATA
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ACCAGTAATTAGATCGGAACAAAACAGGATAGGGATTTTCACAGTGCTTTTCTATACAATGTCTGTAATCTATAGATAACCGATTAGGTCAGGGGTCGATCTTTAACTACCAGGCCCGGGGCGCGGTGCTGGGCTGTCTGCCCGTGGATTTCATTTCTGCCTTTTAGTTTTTACTTCTTTGTAGGCAGAAATTGGCATAAGACAATATGAGGGGTGGTCTCCTCCCTTACTGCCAGCCAGAATTTTGACTGTTTTTCTGTTTAATGCTATTATAGAAGAGAGATTGAGCCGTATCTCCCGCTCAGGGAAAGGAAAGGCTGAGAGGTCTGCCTAAAGGGAGTGGGGGTGGTTGTGAACAAGAGAGCCATAAATTGTTTTGAGATAACACATTAAGCCAAATCAACTCCCTCAAATACTAATTTTATTTATTTATTTAGTTAGTTAGTTGTATTTTTTGAGACAGGCTCGCTCTGTTGCCCAGGCTGCAGTGCGGTAGCATGATCTTGGCTCACTGCAATCTCTGCCTCCCAGGTTCAAGCCATTCTCCTGCCCCAGCCTCCCGAGTAGCTGGGATTACAGCTGTGGGCCACCAAGCCCGGCTGTTTTGTATTTTTAGTAGAGACAGGGTTTCACCATGTTGGTCAGGCTGATCTCATAACAATGCCTTCCTAAACAATGCCTAAGCCTGGGCGTGGTGGTTCACACCTGTAATCCCAGCACTTTGGGAGGCTCAGGTGAGTGGATCACTTGAGCTCGGAGTTCAACACCAGCCTGGCCAACATGGCAAAACCCCGTCTCTACTAAAAATACAAAAAATATTGGGTGTGGTGGCACACACCTGTAGTCCCAGCTACCTGGGGGGCTGAGGTGGGAAGATCACTTGAGCCCAGGAGGTTGAGGCTGCAGTGAGCTGAGATCACACACCACTACACTCCAGCCTGGGTGACAAAGTGAGACCCTGTCTCAACCCCCGAAAACCAACAATGCCCAGACAATCAAAAAAGTAATTATCTGGGTTATTTACACACTTATTTATCAGCTGGGGCCCAGGTCATTCTGATTTCCTGAGTGCTCTTCAAAGGAATCCAGAAATGAAAATATCAACTAGCAACATTAACGATAAAGCCCATCTCCTGTGGCAACAAGCTTGCTGAGGAACCTGTTTGTTTGTCCTTGGCTGGGGACTCAAGAAGTGAATGTGGAGAAGTGATCTAGCCCAGGGAGTGAAGCTCCAGTTGCAGTGAGGTTCTGGCCTTTCATCTCTTGCTACCATTTGGATCTAAAAACAACAGTTGGTGGTAGTTGGTAGTTGATGAGAAAGGTGGTAGTTGATGAGAAAGTGTAGTCTATAAAAGTCCCCCTTTTTGTATCTCTCTCCTCACCCTCCTTTCCCAAGGTGTTACCCTATACCTTGCCCCCATTGCCTAGATTTTCATTTGTCACTTAGAATATTTCTATGGAAAGGGTAGATAAAGAAGACAGCTGGTGAAGATGGAAGAGAATGGATGGACCTCATTCTGTAAGACCTGGCTTGGGGTGGGGTGCGGGTGGAGGTAGTCGGGTTGACAGAATCTTAATTAGAGCCAGGAGGAATCTCAAATTCTTCACAGATCATTCTGAGGTCAAGAAGTGACATGACTGGGGTGAAATAGTACAGTTAGTGTCAGTGTTGGGGTTTTGTATTGTTTTCTTTCCAGACCCCAGGTCCATATACAGTAAAGACTCTAAATGTCGACTATGTGAAAGGGCTCAGGGAAGGCCAAATATCTATGGAAAAAGGCTGGGTTTGGACTTACAACCCCAACTGTAGCCTAACTGTAGGGGAAGCCATACTGTGGCCGTGGCAACTGAAGACATCCCGTCCCAAACTCTGGAAAGGATGAGGGAGGGGGCTGATGCCTAGGCCTCCGTGGGGAGGAGGTCTGGGCGGTAGGCGGTGGGGTGGGTGGAACCTAGCGTCCAGCTAGGCGGAAGGGCGGAGCTTCAGGTCTCCATGGAGGCGGCTTCTCCTAGCAACTCGACGGGCGTTGAGCGGAGCCGCTGACCTGGTGGACGCCGACAGCCTCCTGCTGTCTCTGGAGCTGGCGTCCGGCAGTGGGCAGGGCCTCAGCCCGGACCGTCGGGCCTCGCTGCTCACGTCTCTTATGCTGGTTAAGCGCGACTACCGCTATGATCGGGTTCTCTTCTGGGGCCGCATCCTTGGCCTCGTCGCCGATTACTACATCGCGCAGGGCCTGAGTGAGGACCAGCTCGCACCGCGCAAGACGCTCTATAGGTGAGGAGGCCCCCGGGACGGGCTCCCCAGAGGGTGGCTACCTGGAGGCAGGGCGGGGTGGGCGGGTCGCAGCAATTGAAAGGGGCGGGGCCCATGGGGCCAAGGGAGGTGTGGGCGGGATCTGAGATGAGTGGAATGGGGGAGACCCTGGGGGGCGGGCCTGGGGACGGTCAAGAGGTGGTTGAGGGAAAGGGCGGGGATGGGGATGTCTCGGAATCTGAGGCTAGGGCGGAGCCTGAGAGGGCGGGGCAATGGACGGGCGATGTCCCCCGGAGGGCGGGGCCTTGCGAGAGCTTGTTCTCCGCCTGAGGAGGCCAAGAGAAACTTACATGCGGATGGGTTTATAAGAGAGACAGGGCCAAGAACGCAGGTGAAGCAGTGGGAAGGTTTCTGGAAAATGCGGACCTGGAGAAGAAGCCAGGTTCCAGCCAAGTGCTGGGCCTGGCTCAGTTTGGAGAAGGCTCAGTTTGGAGAAGAGTCAGACGCCAGAGGGAGAGGGTGGTGCTCTTTGATAGAGGTATCTGCTCTGGAGCTGGAGGCGCTTTTGGAAATAGAGAACGAATGCGGAATGGGGAGAGAGCTGGGGAAAATTCCCTGGTCACTACCATACAGGACCATCCAGCTATTTATTTATTTATTTTTGTTTTGAGGCAGAGTCTTGCTCTGTCACCCAGGCTGGAGTGCAGTGTCGCTATCTTGGTTCACTGCAACCTCCGCCTCCCGGATTCAAGCGATTTTCCTGCCTCAGCCTCCCAAATAGCTGGGATTACAGGCACGTGCCACCACACCTGGCTATTTATTTATTATTATTATTATTATTATTTTAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCTCGATCTCGGCTCACTGCAAGCTCCGCCTCCTGGGTTCACGCCATTCTCCTCCCTCAGCCTCCCGAGTGGCTGGGACTACAGGCGCCCGCCACCATGCCCGGTTAATTTTTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCGTGTTAGCTAGGATGGTCTCGATCTCCTGACCTCGTGATCCGTCCGCCTCAGCCTCCCAAAGTGCTGGGATCACCCACCGCGCTTGGCAATTATTTATTTATTTATTATTTTTGTAATTTTAATAGAGACAGGGTTTCACTATGCTGGTTAGGCTGGTCTCGAACTCCTGGCCTCAAGTAATCCACCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCATGCCCGGCCAGCCTCTTTTTGACTAAAGGGGAGCTTACTACCTTACAAAGCAGTCCATTCGGCCAGCCTGGGCAATATAGCAAGACCTCATCACTACAAAAAAAAAAAAAAAAGGCAGGGTGTGGTGGCTCACGCCTTTAATCCCAGCACTTTGGGAGGCAGAGTTGGGCGGATCACGAGGTCAGGAGATTGAGACCATCCTGGCTAACGCGGTGAAACACTACTGAAAATACGAAAAATTAGACGGGCGTGGTGGCGGGCGCCTGTAGTCCTAGCTACTCGGGAGGCTGAGGCAGAAGAATCACTTGAATCTGGGAGGCGGAGGTTGCAGTGAGCTGGCATCATGCCACGCACTCCAGCCTGGGTGACAGAGTGAGACTCCGTCTCAAAAAAAAAAAAAGAAAAAAAAAAAGGAAAATTTGCAGGGCATGGTGGTGCATACCTGTAGTCCCAGCTACTCGGTAGGCTGAGGTGGGAGGATTGCGCCCGAGAGTTCAAAGCTGCAGTTAACTATGGATCACTACTGCGCTCCAGCCTGGTGACAGAGCGAGACCCTGTCTCAAAACAAATAAATAAATA
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Task1_train_10387
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This mutation occurs in SLC29A1 (solute carrier family 29 member 1 (Augustine blood group)) on Chromosome 6. Does this change lead to a known medical condition, or is it benign?
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Pathogenic; Hemolytic disease of fetus OR newborn due to isoimmunization
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GCAGGAGACCAAGTTGGACCTCATTAGCAAAGGTCCGAAGAGCCTGAGGAAGCTGGGGTGGAGGATGGTATACCAGGCGGGGGATAGCATGAGCAAAGAGAACAAAGATGAGTGCCCTGTGTTAGCTAGCAGCCCTGAGCCAGAGGAGGACTGAAGGACTACAGCAGGGAGAGGGGGACAATAGGAAATAAGGGCCGGCAATGATAAAATGGGGGCAGATCCTGGATGACCTTGAATGCCTGAGGTGTTTGGACTAAAGGCAGTGGGAAGCAATTTCAGATTCTTGAGTGAGGAGTAACATGACCTGAGGCTCCTGGGAGAGGCCAGGCCCCCGGGTCTTGAGTTGTAGGGATTTGGAGGCGAGGTCTGGGTTAGGGTTAGAGTACGGCTGGGACTGGTTAAGGAGGCGTCTACTTTCAAGTAATCCCAGCCGTTTTGGGGAATGTTTATGTTGTCTTCTGTTGCTCTGTCTTCCCCACAACTTGGAGATTTCTTCCATCCCGCAGGAGAGGAGCCAAGAGCAGGCAAAGAGGAATCTGGAGTTTCAGTCTCCAACTCTCAGCCCACCAATGAAAGCCACTCTATCAAAGCCATCCTGAAAAATGTACGTAGGGGAGGTTATCCTATCTTCTACCCCTTGTCCTCTTTCTCTCCTCCTTTTGCTCCCTCCCCCTGCCACCCATCTCCTCCCTTTCTGACCTGAGAGTGGTCACTCCTGGATTCTTTTGTGTGTGCGTGCGTGCCCATGCGTGCGTGCCGGGGGTGGGGATTCGTGGTTCCTTTTTTTTGAGACAGAGTTTCACACTTGTTGCCCAGGCTGGAGTGCAATGGTGCAATCTCCACTCGCTGCAACCTCCATCTCCTGGGTTCAAGTGATTCTCCTGCCTCAGCCTCCCAAGTAGCTGAGATTACAGGCATATGCCACCATGCCCGGCTAATTTTTTGTATTTAGTAGAGATGGGGTTTCACCAGGTCAAGCTGGTCTCAAACTCCTGACCTCAGGTGATCCACCCACCTCGGCCTCCCAAAGTGCTGAGATTACAGGCGTGAGCCACCACGCCTGGCCTGGATTCGTGGTTCTTTAATGCACAGCCACCATGAAGACACAGGCATTTGGGTGACTCTACCCCTTCTATCTAGATCTCAGTCCTGGCTTTCTCTGTCTGCTTCATCTTCACTATCACCATTGGGATGTTTCCAGCCGTGACTGTTGAGGTCAAGTCCAGCATCGCAGGCAGCAGCACCTGGGGTGAGGATGCCACAGGTTTCCAGGATGGGAACAGACAGGATCTTGAGTTGGGCTGGAAGTGGGGAAGGGAGGGAGCCTGGGTCACCTTCTCCCCGTTTCCTGGGTCCATTTGCCCTTCCCTGGGCTGGAAGCATCTTCTCCATTTTACTGTTGGGGAAGCTGAGGCCCAGTGAAGGTTAGGCTTGCTATACCTGCCTCTGTGAGCCTGATAACCACCCGTTCATCTCCTCTTCCAGAACGTTACTTCATTCCTGTGTCCTGTTTCTTGACTTTCAATATCTTTGACTGGTTGGGCCGGAGCCTCACAGCTGTATTCATGTGGGTAAGTGGAGGAAGAGGGCCCCAGGCCCCTGTGGGAAGTAAGAGTCCAGCCTGGACCCAGAGAGGGAACCCAAGAAAGTATGGTAGTAAGGGGACCATTTGTTTTAAAGTCGAGGCATAATTTATGTATAGTTAAGTACAAGTCTTAAGTGTACAACTTAATGAATATATGTATATACACATACCTGCCCAGATCGAGATGTAGAATATTTCCAGCACTCCAGAAGGCTCCACCATGCCCCTTTCAAGAGTAACCCCCTAAGGAGAACCAGGCTTTGAGGTTTCAGTTCAGATCCTGAGGGGCCCCAGATGGATCCTTGGGGGCCTGGCTGTGCCCTGGGGTGGCGGCCTGGGCTGAGGCCCTGCCTGGTGCCCACAGCCTGGGAAGGACAGCCGCTGGCTGCCAAGCCTGGTGCTGGCCCGGCTGGTGTTTGTGCCACTGCTGCTGCTGTGCAACATTAAGCCCCGCCGCTACCTGACTGTGGTCTTCGAGCACGATGCCTGGTTCATCTTCTTCATGGCTGCCTTTGCCTTCTCCAACGGCTACCTCGCCAGCCTCTGCATGTGCTTCGGGCCCAAGTGAGTAGGGCTGGCAGGGAACTTGGTGGCATCAGACAGGATCTAGAGTTCCAGTGGGGGACACTCAGTAGAGGGAGGGCAAAAGGAGAGTCCCTGCTCCCAGAGCTGAGAGGAGAGATGGCTCAGGAGGGGCTCCCAGGCTGAGGGGATAGTGACTGTAGTGGAGGGGGGCGCCAAGCTTACTTGGGTGGAGGTGGAGACAGGTTTGCAGGAAGGAGTGAAAGACAACCCCACCATACACGTTCCCTCAAGGAGGAGAAGCCAGGTTGGGGTTAGGCAGCCAGGATGGGTTGATCAACAGAATGAGGTTCGACAGTCAAGTTGCTCCACCCCACCCCTCCTTCCACCCAGAGGCTCTGGGCTGGGGTACAGCCATTCTGAGGTAGCCTTGCCCTTCCTTCCCCGCTTAGGAAAGTGAAGCCAGCTGAGGCAGAGACCGCAGGAGCCATCATGGCCTTCTTCCTGTGTCTGGGTCTGGCACTGGGGGCTGTTTTCTCCTTCCTGTTCCGGGCAATTGTGTGACAAAGGATGGACAGAAGGACTGCCTGCCTCCCTCCCTGTCTGCCTCCTGCCCCTTCCTTCTGCCAGGGGTGATCCTGAGTGGTCTGGCGGTTTTTTCTTCTAACTGACTTCTGCTTTCCACGGCGTGTGCTGGGCCCGGATCTCCAGGCCCTGGGGAGGGAGCCTCTGGACGGACAGTGGGGACATTGTGGGTTTGGGGCTCAGAGTCGAGGGACGGGGTGTAGCCTCGGCATTTGCTTGAGTTTCTCCACTCTTGGCTCTGACTGATCCCTGCTTGTGCAGGCCAGTGGAGGCTCTTGGGCTTGGAGAACACGTGTGTCTCTGTGTATGTGTCTGTGTGTCTGCGTCCGTGTCTGTCAGACTGTCTGCCTGTCCTGGGGTGGCTAGGAGCTGGGTCTGACCGTTGTATGGTTTGACCTGATATACTCCATTCTCCCCTGCGCCTCCTCCTCTGTGTTCTCTCCATGTCCCCCTCCCAACTCCCCATGCCCAGTTCTTACCCATCATGCACCCTGTACAGTTGCCACGTTACTGCCTTTTTTAAAAATATATTTGACAGAAACCAGGTGCCTTCAGAGGCTCTCTGATTTAAATAAACCTTTCTTGTTTTTTTCTCCATGGCTCCCTGTGTCCTCCAGCCGTGGCTTCATGCCCTGGAGTGGGTAGAGGGCTGGCAGCCTGAGTCTGGGAGATGAGCATGACCCAGCTGGGCCCTGGCCAGGACTGGACCTGGGTCCAAGGGGGAGGAGGGGGGAGTAGTCCTCTTGGCCTCAGAGGGGCTGCAATGCCCCCTGCTGGGGCCACAGGGGAGGGACAGGCCTGGAACCAGAACACCAAGACTGTTAGCCAAGACTAAGAACGGGTTTTTCTTTGCTGCTTCATTCTTTCTTTCATAGGACAGAGGATGGAGATAGCTCCCCATCTTTCCTTTGTCTTCACTGCCAGCCCCTCCACTCTGTCCCCAGCCCCAGCAATGAACTCTGCAAAACTGGCCAGCTCCTGGCCATACTCCCATACCACCAGGCAGGAAGAGGCCGAGGCCTGAGGGTTCTCCCCTACCTGGCACCCAGCCTTAACACCAAAGCTCAGCCTGCCAGACTTCCTGGGGAACAAGGGCCCTGTGTGTCTGCACAGTGAAACCAACCCTTCCCTTCTCAACACAAACTCTGGCCTAGGGAGGGGTGGGTTGTTATGGAACTATGAGTGTCTCAGTGGAGAAGGCCCTACCACTGGGACCCCCATCTCAAGAATGACCTGACTGGAAGTGAGACCAGAGCTCTGGCCACAGTGCAGCACCCCTGCAATCTGCATTCCTTACCCTCCCACAAGTCTCAGACTCCTCCCAGAAAGCAGAAGACATTCCTGAATTCTCAGCGCAGGCTGCTCACTCAGCCCTGGCCAGCAGATGGCTACAGAGTTGGCACC
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GCAGGAGACCAAGTTGGACCTCATTAGCAAAGGTCCGAAGAGCCTGAGGAAGCTGGGGTGGAGGATGGTATACCAGGCGGGGGATAGCATGAGCAAAGAGAACAAAGATGAGTGCCCTGTGTTAGCTAGCAGCCCTGAGCCAGAGGAGGACTGAAGGACTACAGCAGGGAGAGGGGGACAATAGGAAATAAGGGCCGGCAATGATAAAATGGGGGCAGATCCTGGATGACCTTGAATGCCTGAGGTGTTTGGACTAAAGGCAGTGGGAAGCAATTTCAGATTCTTGAGTGAGGAGTAACATGACCTGAGGCTCCTGGGAGAGGCCAGGCCCCCGGGTCTTGAGTTGTAGGGATTTGGAGGCGAGGTCTGGGTTAGGGTTAGAGTACGGCTGGGACTGGTTAAGGAGGCGTCTACTTTCAAGTAATCCCAGCCGTTTTGGGGAATGTTTATGTTGTCTTCTGTTGCTCTGTCTTCCCCACAACTTGGAGATTTCTTCCATCCCGCAGGAGAGGAGCCAAGAGCAGGCAAAGAGGAATCTGGAGTTTCAGTCTCCAACTCTCAGCCCACCAATGAAAGCCACTCTATCAAAGCCATCCTGAAAAATGTACGTAGGGGAGGTTATCCTATCTTCTACCCCTTGTCCTCTTTCTCTCCTCCTTTTGCTCCCTCCCCCTGCCACCCATCTCCTCCCTTTCTGACCTGAGAGTGGTCACTCCTGGATTCTTTTGTGTGTGCGTGCGTGCCCATGCGTGCGTGCCGGGGGTGGGGATTCGTGGTTCCTTTTTTTTGAGACAGAGTTTCACACTTGTTGCCCAGGCTGGAGTGCAATGGTGCAATCTCCACTCGCTGCAACCTCCATCTCCTGGGTTCAAGTGATTCTCCTGCCTCAGCCTCCCAAGTAGCTGAGATTACAGGCATATGCCACCATGCCCGGCTAATTTTTTGTATTTAGTAGAGATGGGGTTTCACCAGGTCAAGCTGGTCTCAAACTCCTGACCTCAGGTGATCCACCCACCTCGGCCTCCCAAAGTGCTGAGATTACAGGCGTGAGCCACCACGCCTGGCCTGGATTCGTGGTTCTTTAATGCACAGCCACCATGAAGACACAGGCATTTGGGTGACTCTACCCCTTCTATCTAGATCTCAGTCCTGGCTTTCTCTGTCTGCTTCATCTTCACTATCACCATTGGGATGTTTCCAGCCGTGACTGTTGAGGTCAAGTCCAGCATCGCAGGCAGCAGCACCTGGGGTGAGGATGCCACAGGTTTCCAGGATGGGAACAGACAGGATCTTGAGTTGGGCTGGAAGTGGGGAAGGGAGGGAGCCTGGGTCACCTTCTCCCCGTTTCCTGGGTCCATTTGCCCTTCCCTGGGCTGGAAGCATCTTCTCCATTTTACTGTTGGGGAAGCTGAGGCCCAGTGAAGGTTAGGCTTGCTATACCTGCCTCTGTGAGCCTGATAACCACCCGTTCATCTCCTCTTCCAGAACGTTACTTCATTCCTGTGTCCTGTTTCTTGACTTTCAATATCTTTGACTGGTTGGGCCGGAGCCTCACAGCTGTATTCATGTGGGTAAGTGGAGGAAGAGGGCCCCAGGCCCCTGTGGGAAGTAAGAGTCCAGCCTGGACCCAGAGAGGGAACCCAAGAAAGTATGGTAGTAAGGGGACCATTTGTTTTAAAGTCGAGGCATAATTTATGTATAGTTAAGTACAAGTCTTAAGTGTACAACTTAATGAATATATGTATATACACATACCTGCCCAGATCGAGATGTAGAATATTTCCAGCACTCCAGAAGGCTCCACCATGCCCCTTTCAAGAGTAACCCCCTAAGGAGAACCAGGCTTTGAGGTTTCAGTTCAGATCCTGAGGGGCCCCAGATGGATCCTTGGGGGCCTGGCTGTGCCCTGGGGTGGCGGCCTGGGCTGAGGCCCTGCCTGGTGCCCACAGCCTGGGAAGGACAGCCGCTGGCTGCCAAGCCTGGTGCTGGCCCGGCTGGTGTTTGTGCCACTGCTGCTGCTGTGCAACATTAAGCCCCGCCGCTACCTGCCTGTGGTCTTCGAGCACGATGCCTGGTTCATCTTCTTCATGGCTGCCTTTGCCTTCTCCAACGGCTACCTCGCCAGCCTCTGCATGTGCTTCGGGCCCAAGTGAGTAGGGCTGGCAGGGAACTTGGTGGCATCAGACAGGATCTAGAGTTCCAGTGGGGGACACTCAGTAGAGGGAGGGCAAAAGGAGAGTCCCTGCTCCCAGAGCTGAGAGGAGAGATGGCTCAGGAGGGGCTCCCAGGCTGAGGGGATAGTGACTGTAGTGGAGGGGGGCGCCAAGCTTACTTGGGTGGAGGTGGAGACAGGTTTGCAGGAAGGAGTGAAAGACAACCCCACCATACACGTTCCCTCAAGGAGGAGAAGCCAGGTTGGGGTTAGGCAGCCAGGATGGGTTGATCAACAGAATGAGGTTCGACAGTCAAGTTGCTCCACCCCACCCCTCCTTCCACCCAGAGGCTCTGGGCTGGGGTACAGCCATTCTGAGGTAGCCTTGCCCTTCCTTCCCCGCTTAGGAAAGTGAAGCCAGCTGAGGCAGAGACCGCAGGAGCCATCATGGCCTTCTTCCTGTGTCTGGGTCTGGCACTGGGGGCTGTTTTCTCCTTCCTGTTCCGGGCAATTGTGTGACAAAGGATGGACAGAAGGACTGCCTGCCTCCCTCCCTGTCTGCCTCCTGCCCCTTCCTTCTGCCAGGGGTGATCCTGAGTGGTCTGGCGGTTTTTTCTTCTAACTGACTTCTGCTTTCCACGGCGTGTGCTGGGCCCGGATCTCCAGGCCCTGGGGAGGGAGCCTCTGGACGGACAGTGGGGACATTGTGGGTTTGGGGCTCAGAGTCGAGGGACGGGGTGTAGCCTCGGCATTTGCTTGAGTTTCTCCACTCTTGGCTCTGACTGATCCCTGCTTGTGCAGGCCAGTGGAGGCTCTTGGGCTTGGAGAACACGTGTGTCTCTGTGTATGTGTCTGTGTGTCTGCGTCCGTGTCTGTCAGACTGTCTGCCTGTCCTGGGGTGGCTAGGAGCTGGGTCTGACCGTTGTATGGTTTGACCTGATATACTCCATTCTCCCCTGCGCCTCCTCCTCTGTGTTCTCTCCATGTCCCCCTCCCAACTCCCCATGCCCAGTTCTTACCCATCATGCACCCTGTACAGTTGCCACGTTACTGCCTTTTTTAAAAATATATTTGACAGAAACCAGGTGCCTTCAGAGGCTCTCTGATTTAAATAAACCTTTCTTGTTTTTTTCTCCATGGCTCCCTGTGTCCTCCAGCCGTGGCTTCATGCCCTGGAGTGGGTAGAGGGCTGGCAGCCTGAGTCTGGGAGATGAGCATGACCCAGCTGGGCCCTGGCCAGGACTGGACCTGGGTCCAAGGGGGAGGAGGGGGGAGTAGTCCTCTTGGCCTCAGAGGGGCTGCAATGCCCCCTGCTGGGGCCACAGGGGAGGGACAGGCCTGGAACCAGAACACCAAGACTGTTAGCCAAGACTAAGAACGGGTTTTTCTTTGCTGCTTCATTCTTTCTTTCATAGGACAGAGGATGGAGATAGCTCCCCATCTTTCCTTTGTCTTCACTGCCAGCCCCTCCACTCTGTCCCCAGCCCCAGCAATGAACTCTGCAAAACTGGCCAGCTCCTGGCCATACTCCCATACCACCAGGCAGGAAGAGGCCGAGGCCTGAGGGTTCTCCCCTACCTGGCACCCAGCCTTAACACCAAAGCTCAGCCTGCCAGACTTCCTGGGGAACAAGGGCCCTGTGTGTCTGCACAGTGAAACCAACCCTTCCCTTCTCAACACAAACTCTGGCCTAGGGAGGGGTGGGTTGTTATGGAACTATGAGTGTCTCAGTGGAGAAGGCCCTACCACTGGGACCCCCATCTCAAGAATGACCTGACTGGAAGTGAGACCAGAGCTCTGGCCACAGTGCAGCACCCCTGCAATCTGCATTCCTTACCCTCCCACAAGTCTCAGACTCCTCCCAGAAAGCAGAAGACATTCCTGAATTCTCAGCGCAGGCTGCTCACTCAGCCCTGGCCAGCAGATGGCTACAGAGTTGGCACC
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Task1_train_10388
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Given this variant in gene AARS2 (alanyl-tRNA synthetase 2, mitochondrial) on Chromosome 6, classify it as benign or pathogenic. Include the disorder it may cause if applicable.
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Pathogenic; Combined oxidative phosphorylation defect type 8
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GCATCCACTCAAGGTACCCTCAAGAGTGGAGCTGAAGGTCATCAGTGCCCCCTTCCCAGCTGGGCACATGGTGGGGCAGTCAGGTGATGAGCCGGAGAAGGTTTGGGCTGGAAATGTGTGTGGGGAGGTGTATGAACGTGAACATCTGCTACTTGTTTACAAGGGATGTGAGGCCTGGGAGGGGTTAGGAATTAAGGAATCTCTTGGTGCCTTCTGGGGTGGGGAGGGGCTGTTTTCAGGAACAAGGAGATTCCCCATCCCTGTCCTGGAGTATCCTCATAGATACTTCCACCCAGCCTTGGCCCCTTTGGGAGGAATTAAAGGTGTAAAATCAGAGAGCTGGACCAGGATGGGTATTAATGGGGGCGGTGGGCTGCTCTCCCACTTCCCTCACCTGGGCCACCTGACAGGCACACAGCACCTTCCCCATGGGCTGGGGGCTGAGTAGGAGCACAGACGTGCTGGGGGCCTGCTCACACAGCTGCCGTACCACCTTCACCAGCACCTGGACCACGAAAGACAGATGGTGAGCCCATCGCTTCCCAGACCCCTAGCTGTCTCCTGGTCAGGACTTTGCCCTCCCCAGACCCTGGGGCAGCCCGGCTTGGCTAGCACTCACTGAGAGAGACTCAGCAGAGACTGTGTCCACAATCAGAGGCCCCTTCGAGTGCCGCTCCAGCAGCTCCTGAGTTTTCTTTGCAGCCTATGGGGCAGGAAGGACAAGCAGAGGGGTCAGGCTGAGAGGCAGGTTTCCAATTAGCCCCAACTTCTGAACTAAGCCCCAGCTGAGCAATCCCCTGCTTCCCCCACCCACCCCAAAAGTCATTAGCTCTAGGCAGAGGTGGCAGGGACTCTGCCTAGGGTGGCCTCCTTTTTGGGTCCCACATGTGTCCTTCCTCACTTCCCTCACCACTTCCCTTTCATCATAGCTTCAGGCCCCTACAAATAGGTCGCTGAAGGTGAAAGGAGGAAGGTCAGAGCACAGATGGACCAGGAGTGGGCGGGAGAAAGGGGGATCCACAGTGGAGGTGCAATCAGGGCTGAATGGCACTAATCAAGTCAGTAGGCTTCCGGGGGTTCTGAGCCAGACTTGGGAGTTGGGGGAGAAACACAGTTTGAAAGAGACAGAAGTGGGGGAATGGCCTGGGTGATGGTTCTCAGCTGGCAGGAGAAGGAAGCTGCCACCACCCCGTCCTTGCACAGCCTCTGACTCACCCCCATGCCCCAGCCCTTGAGACTTCTCAGTGTATCTGCTGGAGTGTCTCTGGGCACATGGGTGCAGCCAAACCTCCTCTCACCTGTCCCATTTGCAGCTTACGGATGGCAGTGTTGGCACGCCGCTGCAGCATCTTCACTGTGGCCAGCAGCTCCCGCCGCTGCCACTGGGGCATCACAGCAGTTTCCACAGCCTATGGCCAGAAGCAGTACATCACCCCTGCCCTTCCCTGAGCCATAGTCTCTGAGGTAGGGACCAGCAGGGCCAGGGAAGACACCCACCCTGCAGACAAATATCTGGGCCAGCTGGAGCCCAACCCAATTGGAGTGCTAGGGAGAGTCTGAAGGAGTCCAGGGAGGAATAGGGGAGGTAATAGGGCTAGGAGAGGGTGGGGTGGTAGGCGTGGCCCTCACTTCAATGAGTCGTCCTATGTCCTTGGACAGCCTCAGTGCCTCCGCCACATCCCGGCTCCCCAGACTCAGCCGCTCAGTGGCCGCTTTCACTTCCTGGGCCAGGCTCTGGCCTAGCTCTCGGGCCTGCAGGGAGGGGACAGGAGGGTCAGGATTACATTCATCTCCCCAGGACAAGGCCTCTCAACTCATTACTGGTCAGGGACAAATAAGATTTAACAATCAGGACCAATCAAGGCACCAGCACCAAATAATCAAAACACATGCCAGCTGCCAATAGCTGATATGGCCACATTGGTGTCCAAGTATGAACACTGGCTCTGCTGCTGGGCACCCCTGAGCCTGAGCATGTCACCTGCGTGTGTCCCATGCACCCACTCAACCCAGAAGTCCCAGGCCTACTGGCATGCTGACCTGCTGGGCCTGCTCCCCAGTGACGGCCAGCAGGCGGGTAGTGCCCTTGGAAAGCTGGCGGTCCCCGATGATAACCAGGTCCCCTACAGCCCCAGTACGTAACAGGTGCCTGTGGGAGGAAGGAGTGAACAGAAAGTCGGGGCATGACAGTAGAGAAGGGAGAAGCCAGCGTGCATCTCCCATTAAGGGCTGATGGCTCCAAAGACCAAGGGAAGGGCAAGGATCCGGGGCCCCTGGGCCAGGCAGCACAAAGGAGTGACTCACGTCCCACAGCATAGCTCCACAGAGGTCTGCAGTGCGGCTTGGGAGGCTGGGTCCAATGCATGGGCCACGGGCACCCCCACTGATACCACCCGCACAGGGTCTGGGTAAACCTGAGGTCAAGAGGGGACAGGCCCGTTAACTGCCAAAGGAGAAGGATAAAGCCTCCAGGTATGCCTGAAGGAGGCCCCCGATCTCCAGCAAAAGGGCTTCCCCAACTCACCTCATCCAGAGAGCGCAGGCCAGGGACCTGGGCAGTGAGCGCCAGGGGCACCTCCTCCATGTACACAGCCTCATCCTGCCCCACGGCCTCCTGCACAGTGTTCTCCACTGCCCGGAGCTGCTCTGGGGTCAATGGGGTCTGGAGGGGTGGGGAGGAAATGGAAAGACCAACATGCAGTCAGCCCCACACCTCTAACTGATGCATTGAAACACGGTCAATGTTCACTGAGCTATCCCCAGGTTCTAGAATAGTGGCTAGCACATAATAGGTGCTCAATAAACACTACCTGAGCAGACAATTATTTTCCTTAGAAAGCTATCTGGGAGTTGGGCCTATTGGAAGCTCCAGGCCTTTCACCAGGCACCAAAAGTTAAAGAAACAGAAAAAGGAGGCTGTATCCACATGGAGCTTACAAGGGGTAGCCCAATGGAAGAGAGAACTACAGGATGGGGGGATGCAGGGGCAGGGAATAAGCAGGTGGGATGGGGATTAGCCAGCAAGTACTTCCTGGAGAAAGGATTTAAGCCAGATGTGTAAGAAGCGCAGGGAGACAGGGTGGCAGCAGAGGGAGAGGGCAGCCCAGTTTAGGCAAGAATGGCTTGGATGACAGTAGAAACAAGGAAGGGGAGCGGCTGGAGGTGAAGGGAAGGCCCCTGCTGGAGGGCCTTCAGGATCCCACATCAGAGCTGGGCGAGGCCCCAGACACTCTGTAGCCTGACTCCTCACTGCTGCACAAGGAGCCCAAGGGGAAAGGACTTGCCCAGGGTCCCATAGTGATTGGGTGGCCGTGCTGGGCCTAGAGCCCAGGACTCTAAGGGCAACCCGCTCACAGCAGGCTGTCTCTCTTTTATGCCTGTCACCTCACATGAAGCCTGTCTTTCTATGCCGGGCTCACCTGGGTGGTCACATCCAAGCGCAGCTGCTCAGGATTGAGATGGGAGCCCTGCTGCTCTGTGCCAGGGCCCAGGGTCTGCCTCAGTGCCCAGTTCAGCAGGTGGGTGGCCGTATGCTTCGCCATGCAGCCTAGACGCCAGGCCTGAAATACTTTTGTCACCCAGCGTCCTGGGTGAGGGCAGGGGGTTGGGAGAGTGAAGGGGCTGCAGGGTATTGGGAACAGTTAGGGAGGATCCTTACCTCATCCACATGCAGCTGCACCTGGTCCCCTAACCGCAGGCACTCAGGGGCTACTGCCTCATGCAGGATGAAACCTCCACAGACCTGGGCCCGGGCTACTGGGAACAGCACGTCCTGAGGGAGGGTAGTGGTCAAGGTGCCTGTAGCCTTTCCCTCCCCTTGGCTCCCACTCAGGCTTGGGTCTGCCGCCCACAGAAATCAGCCTGGGTTGTGATGGAGACTCACCTCTTGCCCTGCCCGCACCAGGTAGCCACGGTCTGAAGCCTGGCCCCCCTGTTCTGCGTAGAAGTTGGTCCTGTCCAAGAGGAGGCCACAGCGCTGGCCTTTCCCCACGGAGGCCACTGCTGTCCCGTCCTCTGTATACAGTTGCAACACCTGGGCCTCACAGGTGCCGAACTCTGCCAGGGCACAGAATGGTTATTAGTGGTGGGCAGGGGC
|
GCATCCACTCAAGGTACCCTCAAGAGTGGAGCTGAAGGTCATCAGTGCCCCCTTCCCAGCTGGGCACATGGTGGGGCAGTCAGGTGATGAGCCGGAGAAGGTTTGGGCTGGAAATGTGTGTGGGGAGGTGTATGAACGTGAACATCTGCTACTTGTTTACAAGGGATGTGAGGCCTGGGAGGGGTTAGGAATTAAGGAATCTCTTGGTGCCTTCTGGGGTGGGGAGGGGCTGTTTTCAGGAACAAGGAGATTCCCCATCCCTGTCCTGGAGTATCCTCATAGATACTTCCACCCAGCCTTGGCCCCTTTGGGAGGAATTAAAGGTGTAAAATCAGAGAGCTGGACCAGGATGGGTATTAATGGGGGCGGTGGGCTGCTCTCCCACTTCCCTCACCTGGGCCACCTGACAGGCACACAGCACCTTCCCCATGGGCTGGGGGCTGAGTAGGAGCACAGACGTGCTGGGGGCCTGCTCACACAGCTGCCGTACCACCTTCACCAGCACCTGGACCACGAAAGACAGATGGTGAGCCCATCGCTTCCCAGACCCCTAGCTGTCTCCTGGTCAGGACTTTGCCCTCCCCAGACCCTGGGGCAGCCCGGCTTGGCTAGCACTCACTGAGAGAGACTCAGCAGAGACTGTGTCCACAATCAGAGGCCCCTTCGAGTGCCGCTCCAGCAGCTCCTGAGTTTTCTTTGCAGCCTATGGGGCAGGAAGGACAAGCAGAGGGGTCAGGCTGAGAGGCAGGTTTCCAATTAGCCCCAACTTCTGAACTAAGCCCCAGCTGAGCAATCCCCTGCTTCCCCCACCCACCCCAAAAGTCATTAGCTCTAGGCAGAGGTGGCAGGGACTCTGCCTAGGGTGGCCTCCTTTTTGGGTCCCACATGTGTCCTTCCTCACTTCCCTCACCACTTCCCTTTCATCATAGCTTCAGGCCCCTACAAATAGGTCGCTGAAGGTGAAAGGAGGAAGGTCAGAGCACAGATGGACCAGGAGTGGGCGGGAGAAAGGGGGATCCACAGTGGAGGTGCAATCAGGGCTGAATGGCACTAATCAAGTCAGTAGGCTTCCGGGGGTTCTGAGCCAGACTTGGGAGTTGGGGGAGAAACACAGTTTGAAAGAGACAGAAGTGGGGGAATGGCCTGGGTGATGGTTCTCAGCTGGCAGGAGAAGGAAGCTGCCACCACCCCGTCCTTGCACAGCCTCTGACTCACCCCCATGCCCCAGCCCTTGAGACTTCTCAGTGTATCTGCTGGAGTGTCTCTGGGCACATGGGTGCAGCCAAACCTCCTCTCACCTGTCCCATTTGCAGCTTACGGATGGCAGTGTTGGCACGCCGCTGCAGCATCTTCACTGTGGCCAGCAGCTCCCGCCGCTGCCACTGGGGCATCACAGCAGTTTCCACAGCCTATGGCCAGAAGCAGTACATCACCCCTGCCCTTCCCTGAGCCATAGTCTCTGAGGTAGGGACCAGCAGGGCCAGGGAAGACACCCACCCTGCAGACAAATATCTGGGCCAGCTGGAGCCCAACCCAATTGGAGTGCTAGGGAGAGTCTGAAGGAGTCCAGGGAGGAATAGGGGAGGTAATAGGGCTAGGAGAGGGTGGGGTGGTAGGCGTGGCCCTCACTTCAATGAGTCGTCCTATGTCCTTGGACAGCCTCAGTGCCTCCGCCACATCCCGGCTCCCCAGACTCAGCCGCTCAGTGGCCGCTTTCACTTCCTGGGCCAGGCTCTGGCCTAGCTCTCGGGCCTGCAGGGAGGGGACAGGAGGGTCAGGATTACATTCATCTCCCCAGGACAAGGCCTCTCAACTCATTACTGGTCAGGGACAAATAAGATTTAACAATCAGGACCAATCAAGGCACCAGCACCAAATAATCAAAACACATGCCAGCTGCCAATAGCTGATATGGCCACATTGGTGTCCAAGTATGAACACTGGCTCTGCTGCTGGGCACCCCTGAGCCTGAGCATGTCACCTGCGTGTGTCCCATGCACCCACTCAACCCAGAAGTCCCAGGCCTACTGGCATGCTGACCTGCTGGGTCTGCTCCCCAGTGACGGCCAGCAGGCGGGTAGTGCCCTTGGAAAGCTGGCGGTCCCCGATGATAACCAGGTCCCCTACAGCCCCAGTACGTAACAGGTGCCTGTGGGAGGAAGGAGTGAACAGAAAGTCGGGGCATGACAGTAGAGAAGGGAGAAGCCAGCGTGCATCTCCCATTAAGGGCTGATGGCTCCAAAGACCAAGGGAAGGGCAAGGATCCGGGGCCCCTGGGCCAGGCAGCACAAAGGAGTGACTCACGTCCCACAGCATAGCTCCACAGAGGTCTGCAGTGCGGCTTGGGAGGCTGGGTCCAATGCATGGGCCACGGGCACCCCCACTGATACCACCCGCACAGGGTCTGGGTAAACCTGAGGTCAAGAGGGGACAGGCCCGTTAACTGCCAAAGGAGAAGGATAAAGCCTCCAGGTATGCCTGAAGGAGGCCCCCGATCTCCAGCAAAAGGGCTTCCCCAACTCACCTCATCCAGAGAGCGCAGGCCAGGGACCTGGGCAGTGAGCGCCAGGGGCACCTCCTCCATGTACACAGCCTCATCCTGCCCCACGGCCTCCTGCACAGTGTTCTCCACTGCCCGGAGCTGCTCTGGGGTCAATGGGGTCTGGAGGGGTGGGGAGGAAATGGAAAGACCAACATGCAGTCAGCCCCACACCTCTAACTGATGCATTGAAACACGGTCAATGTTCACTGAGCTATCCCCAGGTTCTAGAATAGTGGCTAGCACATAATAGGTGCTCAATAAACACTACCTGAGCAGACAATTATTTTCCTTAGAAAGCTATCTGGGAGTTGGGCCTATTGGAAGCTCCAGGCCTTTCACCAGGCACCAAAAGTTAAAGAAACAGAAAAAGGAGGCTGTATCCACATGGAGCTTACAAGGGGTAGCCCAATGGAAGAGAGAACTACAGGATGGGGGGATGCAGGGGCAGGGAATAAGCAGGTGGGATGGGGATTAGCCAGCAAGTACTTCCTGGAGAAAGGATTTAAGCCAGATGTGTAAGAAGCGCAGGGAGACAGGGTGGCAGCAGAGGGAGAGGGCAGCCCAGTTTAGGCAAGAATGGCTTGGATGACAGTAGAAACAAGGAAGGGGAGCGGCTGGAGGTGAAGGGAAGGCCCCTGCTGGAGGGCCTTCAGGATCCCACATCAGAGCTGGGCGAGGCCCCAGACACTCTGTAGCCTGACTCCTCACTGCTGCACAAGGAGCCCAAGGGGAAAGGACTTGCCCAGGGTCCCATAGTGATTGGGTGGCCGTGCTGGGCCTAGAGCCCAGGACTCTAAGGGCAACCCGCTCACAGCAGGCTGTCTCTCTTTTATGCCTGTCACCTCACATGAAGCCTGTCTTTCTATGCCGGGCTCACCTGGGTGGTCACATCCAAGCGCAGCTGCTCAGGATTGAGATGGGAGCCCTGCTGCTCTGTGCCAGGGCCCAGGGTCTGCCTCAGTGCCCAGTTCAGCAGGTGGGTGGCCGTATGCTTCGCCATGCAGCCTAGACGCCAGGCCTGAAATACTTTTGTCACCCAGCGTCCTGGGTGAGGGCAGGGGGTTGGGAGAGTGAAGGGGCTGCAGGGTATTGGGAACAGTTAGGGAGGATCCTTACCTCATCCACATGCAGCTGCACCTGGTCCCCTAACCGCAGGCACTCAGGGGCTACTGCCTCATGCAGGATGAAACCTCCACAGACCTGGGCCCGGGCTACTGGGAACAGCACGTCCTGAGGGAGGGTAGTGGTCAAGGTGCCTGTAGCCTTTCCCTCCCCTTGGCTCCCACTCAGGCTTGGGTCTGCCGCCCACAGAAATCAGCCTGGGTTGTGATGGAGACTCACCTCTTGCCCTGCCCGCACCAGGTAGCCACGGTCTGAAGCCTGGCCCCCCTGTTCTGCGTAGAAGTTGGTCCTGTCCAAGAGGAGGCCACAGCGCTGGCCTTTCCCCACGGAGGCCACTGCTGTCCCGTCCTCTGTATACAGTTGCAACACCTGGGCCTCACAGGTGCCGAACTCTGCCAGGGCACAGAATGGTTATTAGTGGTGGGCAGGGGC
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Task1_train_10389
|
A mutation found in AARS2, POLR1C (alanyl-tRNA synthetase 2, mitochondrial| RNA polymerase I and III subunit C) on Chromosome 6 may be clinically relevant. Is it pathogenic or benign, and if the former, which disease is implicated?
|
Pathogenic; Combined oxidative phosphorylation defect type 8
|
GCAGCCCGGCTTGGCTAGCACTCACTGAGAGAGACTCAGCAGAGACTGTGTCCACAATCAGAGGCCCCTTCGAGTGCCGCTCCAGCAGCTCCTGAGTTTTCTTTGCAGCCTATGGGGCAGGAAGGACAAGCAGAGGGGTCAGGCTGAGAGGCAGGTTTCCAATTAGCCCCAACTTCTGAACTAAGCCCCAGCTGAGCAATCCCCTGCTTCCCCCACCCACCCCAAAAGTCATTAGCTCTAGGCAGAGGTGGCAGGGACTCTGCCTAGGGTGGCCTCCTTTTTGGGTCCCACATGTGTCCTTCCTCACTTCCCTCACCACTTCCCTTTCATCATAGCTTCAGGCCCCTACAAATAGGTCGCTGAAGGTGAAAGGAGGAAGGTCAGAGCACAGATGGACCAGGAGTGGGCGGGAGAAAGGGGGATCCACAGTGGAGGTGCAATCAGGGCTGAATGGCACTAATCAAGTCAGTAGGCTTCCGGGGGTTCTGAGCCAGACTTGGGAGTTGGGGGAGAAACACAGTTTGAAAGAGACAGAAGTGGGGGAATGGCCTGGGTGATGGTTCTCAGCTGGCAGGAGAAGGAAGCTGCCACCACCCCGTCCTTGCACAGCCTCTGACTCACCCCCATGCCCCAGCCCTTGAGACTTCTCAGTGTATCTGCTGGAGTGTCTCTGGGCACATGGGTGCAGCCAAACCTCCTCTCACCTGTCCCATTTGCAGCTTACGGATGGCAGTGTTGGCACGCCGCTGCAGCATCTTCACTGTGGCCAGCAGCTCCCGCCGCTGCCACTGGGGCATCACAGCAGTTTCCACAGCCTATGGCCAGAAGCAGTACATCACCCCTGCCCTTCCCTGAGCCATAGTCTCTGAGGTAGGGACCAGCAGGGCCAGGGAAGACACCCACCCTGCAGACAAATATCTGGGCCAGCTGGAGCCCAACCCAATTGGAGTGCTAGGGAGAGTCTGAAGGAGTCCAGGGAGGAATAGGGGAGGTAATAGGGCTAGGAGAGGGTGGGGTGGTAGGCGTGGCCCTCACTTCAATGAGTCGTCCTATGTCCTTGGACAGCCTCAGTGCCTCCGCCACATCCCGGCTCCCCAGACTCAGCCGCTCAGTGGCCGCTTTCACTTCCTGGGCCAGGCTCTGGCCTAGCTCTCGGGCCTGCAGGGAGGGGACAGGAGGGTCAGGATTACATTCATCTCCCCAGGACAAGGCCTCTCAACTCATTACTGGTCAGGGACAAATAAGATTTAACAATCAGGACCAATCAAGGCACCAGCACCAAATAATCAAAACACATGCCAGCTGCCAATAGCTGATATGGCCACATTGGTGTCCAAGTATGAACACTGGCTCTGCTGCTGGGCACCCCTGAGCCTGAGCATGTCACCTGCGTGTGTCCCATGCACCCACTCAACCCAGAAGTCCCAGGCCTACTGGCATGCTGACCTGCTGGGCCTGCTCCCCAGTGACGGCCAGCAGGCGGGTAGTGCCCTTGGAAAGCTGGCGGTCCCCGATGATAACCAGGTCCCCTACAGCCCCAGTACGTAACAGGTGCCTGTGGGAGGAAGGAGTGAACAGAAAGTCGGGGCATGACAGTAGAGAAGGGAGAAGCCAGCGTGCATCTCCCATTAAGGGCTGATGGCTCCAAAGACCAAGGGAAGGGCAAGGATCCGGGGCCCCTGGGCCAGGCAGCACAAAGGAGTGACTCACGTCCCACAGCATAGCTCCACAGAGGTCTGCAGTGCGGCTTGGGAGGCTGGGTCCAATGCATGGGCCACGGGCACCCCCACTGATACCACCCGCACAGGGTCTGGGTAAACCTGAGGTCAAGAGGGGACAGGCCCGTTAACTGCCAAAGGAGAAGGATAAAGCCTCCAGGTATGCCTGAAGGAGGCCCCCGATCTCCAGCAAAAGGGCTTCCCCAACTCACCTCATCCAGAGAGCGCAGGCCAGGGACCTGGGCAGTGAGCGCCAGGGGCACCTCCTCCATGTACACAGCCTCATCCTGCCCCACGGCCTCCTGCACAGTGTTCTCCACTGCCCGGAGCTGCTCTGGGGTCAATGGGGTCTGGAGGGGTGGGGAGGAAATGGAAAGACCAACATGCAGTCAGCCCCACACCTCTAACTGATGCATTGAAACACGGTCAATGTTCACTGAGCTATCCCCAGGTTCTAGAATAGTGGCTAGCACATAATAGGTGCTCAATAAACACTACCTGAGCAGACAATTATTTTCCTTAGAAAGCTATCTGGGAGTTGGGCCTATTGGAAGCTCCAGGCCTTTCACCAGGCACCAAAAGTTAAAGAAACAGAAAAAGGAGGCTGTATCCACATGGAGCTTACAAGGGGTAGCCCAATGGAAGAGAGAACTACAGGATGGGGGGATGCAGGGGCAGGGAATAAGCAGGTGGGATGGGGATTAGCCAGCAAGTACTTCCTGGAGAAAGGATTTAAGCCAGATGTGTAAGAAGCGCAGGGAGACAGGGTGGCAGCAGAGGGAGAGGGCAGCCCAGTTTAGGCAAGAATGGCTTGGATGACAGTAGAAACAAGGAAGGGGAGCGGCTGGAGGTGAAGGGAAGGCCCCTGCTGGAGGGCCTTCAGGATCCCACATCAGAGCTGGGCGAGGCCCCAGACACTCTGTAGCCTGACTCCTCACTGCTGCACAAGGAGCCCAAGGGGAAAGGACTTGCCCAGGGTCCCATAGTGATTGGGTGGCCGTGCTGGGCCTAGAGCCCAGGACTCTAAGGGCAACCCGCTCACAGCAGGCTGTCTCTCTTTTATGCCTGTCACCTCACATGAAGCCTGTCTTTCTATGCCGGGCTCACCTGGGTGGTCACATCCAAGCGCAGCTGCTCAGGATTGAGATGGGAGCCCTGCTGCTCTGTGCCAGGGCCCAGGGTCTGCCTCAGTGCCCAGTTCAGCAGGTGGGTGGCCGTATGCTTCGCCATGCAGCCTAGACGCCAGGCCTGAAATACTTTTGTCACCCAGCGTCCTGGGTGAGGGCAGGGGGTTGGGAGAGTGAAGGGGCTGCAGGGTATTGGGAACAGTTAGGGAGGATCCTTACCTCATCCACATGCAGCTGCACCTGGTCCCCTAACCGCAGGCACTCAGGGGCTACTGCCTCATGCAGGATGAAACCTCCACAGACCTGGGCCCGGGCTACTGGGAACAGCACGTCCTGAGGGAGGGTAGTGGTCAAGGTGCCTGTAGCCTTTCCCTCCCCTTGGCTCCCACTCAGGCTTGGGTCTGCCGCCCACAGAAATCAGCCTGGGTTGTGATGGAGACTCACCTCTTGCCCTGCCCGCACCAGGTAGCCACGGTCTGAAGCCTGGCCCCCCTGTTCTGCGTAGAAGTTGGTCCTGTCCAAGAGGAGGCCACAGCGCTGGCCTTTCCCCACGGAGGCCACTGCTGTCCCGTCCTCTGTATACAGTTGCAACACCTGGGCCTCACAGGTGCCGAACTCTGCCAGGGCACAGAATGGTTATTAGTGGTGGGCAGGGGCTGGGGACGTGAAGGTGGGTCTGTGCCTGGAGGCCAACAAGCACCCCCGCTGGCAGGGGCACTTCCAGCTGGGGGCCACAGAGACCCCTGGTGGCCATCCTGGGGAATACATAGGGGCTAGCAGCAACCATCTTGGACATTCTTCTTAGTCATGGTCAGGCAAGCTTGTGGCGGCAGGCCTTGGTCCAGGCTCTCACCATAACTTCCGCTGGGTCGCAGGGAGTAGTTGTACTTGGGGCTGTCGTCAGTTGGGGGCACTCCTTGGCGCTGCAGCTCCCCAAGCGCATGGACATCAAGCCACAATCCCTGCTTCTGAACTGGCTCAGCCTGCCGTGCCCGGTGCTGCAGGGTGGGCATGGGCATGGAAGAAGTGCATGGAGAATGAAAGAATGAAAGTGGGACTTCAGCCTCGCAGGGCCCTGTCCCTGCCACACAGCTGTGGACTCTGCAGCCCTTCTGGAATAAGAACTCAGGGCTTGGCTGGCTGCTAGAGCCCCTGAGCTGGTTGAACCATCCATCATGTCGGCTCCTCGGGATTAGGCCTTCCTGCCCACTGCTGCCCCTGGAGGGCCCCTCTCCAGGAAGCTGTGCTGGC
|
GCAGCCCGGCTTGGCTAGCACTCACTGAGAGAGACTCAGCAGAGACTGTGTCCACAATCAGAGGCCCCTTCGAGTGCCGCTCCAGCAGCTCCTGAGTTTTCTTTGCAGCCTATGGGGCAGGAAGGACAAGCAGAGGGGTCAGGCTGAGAGGCAGGTTTCCAATTAGCCCCAACTTCTGAACTAAGCCCCAGCTGAGCAATCCCCTGCTTCCCCCACCCACCCCAAAAGTCATTAGCTCTAGGCAGAGGTGGCAGGGACTCTGCCTAGGGTGGCCTCCTTTTTGGGTCCCACATGTGTCCTTCCTCACTTCCCTCACCACTTCCCTTTCATCATAGCTTCAGGCCCCTACAAATAGGTCGCTGAAGGTGAAAGGAGGAAGGTCAGAGCACAGATGGACCAGGAGTGGGCGGGAGAAAGGGGGATCCACAGTGGAGGTGCAATCAGGGCTGAATGGCACTAATCAAGTCAGTAGGCTTCCGGGGGTTCTGAGCCAGACTTGGGAGTTGGGGGAGAAACACAGTTTGAAAGAGACAGAAGTGGGGGAATGGCCTGGGTGATGGTTCTCAGCTGGCAGGAGAAGGAAGCTGCCACCACCCCGTCCTTGCACAGCCTCTGACTCACCCCCATGCCCCAGCCCTTGAGACTTCTCAGTGTATCTGCTGGAGTGTCTCTGGGCACATGGGTGCAGCCAAACCTCCTCTCACCTGTCCCATTTGCAGCTTACGGATGGCAGTGTTGGCACGCCGCTGCAGCATCTTCACTGTGGCCAGCAGCTCCCGCCGCTGCCACTGGGGCATCACAGCAGTTTCCACAGCCTATGGCCAGAAGCAGTACATCACCCCTGCCCTTCCCTGAGCCATAGTCTCTGAGGTAGGGACCAGCAGGGCCAGGGAAGACACCCACCCTGCAGACAAATATCTGGGCCAGCTGGAGCCCAACCCAATTGGAGTGCTAGGGAGAGTCTGAAGGAGTCCAGGGAGGAATAGGGGAGGTAATAGGGCTAGGAGAGGGTGGGGTGGTAGGCGTGGCCCTCACTTCAATGAGTCGTCCTATGTCCTTGGACAGCCTCAGTGCCTCCGCCACATCCCGGCTCCCCAGACTCAGCCGCTCAGTGGCCGCTTTCACTTCCTGGGCCAGGCTCTGGCCTAGCTCTCGGGCCTGCAGGGAGGGGACAGGAGGGTCAGGATTACATTCATCTCCCCAGGACAAGGCCTCTCAACTCATTACTGGTCAGGGACAAATAAGATTTAACAATCAGGACCAATCAAGGCACCAGCACCAAATAATCAAAACACATGCCAGCTGCCAATAGCTGATATGGCCACATTGGTGTCCAAGTATGAACACTGGCTCTGCTGCTGGGCACCCCTGAGCCTGAGCATGTCACCTGCGTGTGTCCCATGCACCCACTCAACCCAGAAGTCCCAGGCCTACTGGCATGCTGACCTGCTGGGCCTGCTCCCCAGTGACGGCCAGCAGGCGGGTAGTGCCCTTGGAAAGCTGGCGGTCCCCGATGATAACCAGGTCCCCTACAGCCCCAGTACGTAACAGGTGCCTGTGGGAGGAAGGAGTGAACAGAAAGTCGGGGCATGACAGTAGAGAAGGGAGAAGCCAGCGTGCATCTCCCATTAAGGGCTGATGGCTCCAAAGACCAAGGGAAGGGCAAGGATCCGGGGCCCCTGGGCCAGGCAGCACAAAGGAGTGACTCACGTCCCACAGCATAGCTCCACAGAGGTCTGCAGTGCGGCTTGGGAGGCTGGGTCCAATGCATGGGCCACGGGCACCCCCACTGATACCACCCGCACAGGGTCTGGGTAAACCTGAGGTCAAGAGGGGACAGGCCCGTTAACTGCCAAAGGAGAAGGATAAAGCCTCCAGGTATGCCTGAAGGAGGCCCCCGATCTCCAGCAAAAGGGCTTCCCCAACTCACCTCATCCAGAGAGCGCAGGCCAGGGACCTGGGCAGTGAGCGCCAGGGGCACCTCCTCCATGTACACAGCCTCATCCTGCCCCACGGCCTCCTGCACAGTGTTCTCCACTGCCCGGAGCGGCTCTGGGGTCAATGGGGTCTGGAGGGGTGGGGAGGAAATGGAAAGACCAACATGCAGTCAGCCCCACACCTCTAACTGATGCATTGAAACACGGTCAATGTTCACTGAGCTATCCCCAGGTTCTAGAATAGTGGCTAGCACATAATAGGTGCTCAATAAACACTACCTGAGCAGACAATTATTTTCCTTAGAAAGCTATCTGGGAGTTGGGCCTATTGGAAGCTCCAGGCCTTTCACCAGGCACCAAAAGTTAAAGAAACAGAAAAAGGAGGCTGTATCCACATGGAGCTTACAAGGGGTAGCCCAATGGAAGAGAGAACTACAGGATGGGGGGATGCAGGGGCAGGGAATAAGCAGGTGGGATGGGGATTAGCCAGCAAGTACTTCCTGGAGAAAGGATTTAAGCCAGATGTGTAAGAAGCGCAGGGAGACAGGGTGGCAGCAGAGGGAGAGGGCAGCCCAGTTTAGGCAAGAATGGCTTGGATGACAGTAGAAACAAGGAAGGGGAGCGGCTGGAGGTGAAGGGAAGGCCCCTGCTGGAGGGCCTTCAGGATCCCACATCAGAGCTGGGCGAGGCCCCAGACACTCTGTAGCCTGACTCCTCACTGCTGCACAAGGAGCCCAAGGGGAAAGGACTTGCCCAGGGTCCCATAGTGATTGGGTGGCCGTGCTGGGCCTAGAGCCCAGGACTCTAAGGGCAACCCGCTCACAGCAGGCTGTCTCTCTTTTATGCCTGTCACCTCACATGAAGCCTGTCTTTCTATGCCGGGCTCACCTGGGTGGTCACATCCAAGCGCAGCTGCTCAGGATTGAGATGGGAGCCCTGCTGCTCTGTGCCAGGGCCCAGGGTCTGCCTCAGTGCCCAGTTCAGCAGGTGGGTGGCCGTATGCTTCGCCATGCAGCCTAGACGCCAGGCCTGAAATACTTTTGTCACCCAGCGTCCTGGGTGAGGGCAGGGGGTTGGGAGAGTGAAGGGGCTGCAGGGTATTGGGAACAGTTAGGGAGGATCCTTACCTCATCCACATGCAGCTGCACCTGGTCCCCTAACCGCAGGCACTCAGGGGCTACTGCCTCATGCAGGATGAAACCTCCACAGACCTGGGCCCGGGCTACTGGGAACAGCACGTCCTGAGGGAGGGTAGTGGTCAAGGTGCCTGTAGCCTTTCCCTCCCCTTGGCTCCCACTCAGGCTTGGGTCTGCCGCCCACAGAAATCAGCCTGGGTTGTGATGGAGACTCACCTCTTGCCCTGCCCGCACCAGGTAGCCACGGTCTGAAGCCTGGCCCCCCTGTTCTGCGTAGAAGTTGGTCCTGTCCAAGAGGAGGCCACAGCGCTGGCCTTTCCCCACGGAGGCCACTGCTGTCCCGTCCTCTGTATACAGTTGCAACACCTGGGCCTCACAGGTGCCGAACTCTGCCAGGGCACAGAATGGTTATTAGTGGTGGGCAGGGGCTGGGGACGTGAAGGTGGGTCTGTGCCTGGAGGCCAACAAGCACCCCCGCTGGCAGGGGCACTTCCAGCTGGGGGCCACAGAGACCCCTGGTGGCCATCCTGGGGAATACATAGGGGCTAGCAGCAACCATCTTGGACATTCTTCTTAGTCATGGTCAGGCAAGCTTGTGGCGGCAGGCCTTGGTCCAGGCTCTCACCATAACTTCCGCTGGGTCGCAGGGAGTAGTTGTACTTGGGGCTGTCGTCAGTTGGGGGCACTCCTTGGCGCTGCAGCTCCCCAAGCGCATGGACATCAAGCCACAATCCCTGCTTCTGAACTGGCTCAGCCTGCCGTGCCCGGTGCTGCAGGGTGGGCATGGGCATGGAAGAAGTGCATGGAGAATGAAAGAATGAAAGTGGGACTTCAGCCTCGCAGGGCCCTGTCCCTGCCACACAGCTGTGGACTCTGCAGCCCTTCTGGAATAAGAACTCAGGGCTTGGCTGGCTGCTAGAGCCCCTGAGCTGGTTGAACCATCCATCATGTCGGCTCCTCGGGATTAGGCCTTCCTGCCCACTGCTGCCCCTGGAGGGCCCCTCTCCAGGAAGCTGTGCTGGC
|
Task1_train_10390
|
A genetic alteration is present in AARS2 (alanyl-tRNA synthetase 2, mitochondrial) on Chromosome 6. Is this variant benign or disease-causing, and if the latter, which condition is involved?
|
Pathogenic; Combined oxidative phosphorylation defect type 8
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TGTCCCTGCCACACAGCTGTGGACTCTGCAGCCCTTCTGGAATAAGAACTCAGGGCTTGGCTGGCTGCTAGAGCCCCTGAGCTGGTTGAACCATCCATCATGTCGGCTCCTCGGGATTAGGCCTTCCTGCCCACTGCTGCCCCTGGAGGGCCCCTCTCCAGGAAGCTGTGCTGGCTTCTGCTCCTGTGTTTAGCCCATTGGCTAGTTTTGCTTTCTACTGGTTGTGGCCTGAGGTTTTAGAAACCTCCCAGGTGAGGGGACAGATCCTATCTCAGCCTCTTGATTCCTCTCAATATTCACAGCTCCTCCCCCAGGAGCTCAGGGCTGGGGAAGAGGTGTCCTAACAGAACCCAGCATGGGGTGCCACAGCTTGTACCTGGGCCTCCTCTTGGGCCAACCGCTCCAGTCCAGCGGAGTCTAGCTGGACCCCTTTCTCCTCCAGCATCAGCTCTACCATGTCCAAGGGGAGTCCCAGGTCTCCACACAGTGACAAGGACCAGGCCACTTCAGCTTTGAGAAAGAAAGACAAAGAATGTTGAGGAGGGGAGGGATTAGACAAAGAAGGGGAGAAAAATAAGGTCCAGGGCCCTTCTAACCACGCAGAAGCCACCAGATGCCAAACACAAATACCCGCTCCATACTGGGTAGCCTCAGGAGAGGGGTCACATTCAGGCTTCATGCCTCAAGGCCAGAGCTGGGGGTAGTCCAGGGTACTCCCTGGGCACACATCATTTCAAGGGAGGAGGGAAGCTCAGTCTATGCACGAAGCCAACCTAGGAAAGCAGGAGGCAGGGCTAGCTGGGCACTGTGGACATGGGGAGAGGCAGGGTGGTATTCCTGCTGCAGAGGGGTCTGGGTATGGAAGGAGAGTCCAGGGAGAAAGGAACATTGGGAAGAGGTCAGGGGTGGATATGAGGCATGGGGCTGGCCCAGAGCTCCCTCCTCTGCCCACCTTGGTGAGTCTCAGCGAGCCCCTTGTGCATGGGCTAGGTATCCTGCTTACCAGGGAACATATCTGAAGGCCCCAGGGTCCTCAGAGTCCGATCAATGATCCGCCTACCCCGCTCCAGGGAGGCCAGGAAGGCTGCCTCGTCCTCTGACACCAGGTTGGCGATCTGAACCAGGCAGAGAAGAAGTGGAGCTGGGTCTCCTTGGAAGGAGGGTCTCTCTCCACAACTCTCCCATCAACCCCTTTCTCTCCCACTGGAATCCAGTACCTGGGCTGAGTTCCTTTGCAGTTCTGGATAAGCATCTCCCTGGGGGAGGTGGAGAGGGCTGAGGAGGTGTGAAAGGCAACCAACCCACCCCCACCTCCCCACCCTGGGCCTCCCTGAGGACACCTGCCCTGGAGGCTCAGACACATTGAGGGGCTGGGAGAGGGACTCAAATGGGGAACTGGTTTCCCTGTAGGGTGGCAGAAGGGGGTCCTGAGGTCAAGGGCTGAGCAGTTTGGAAAAGGAGCCTCCTCAAGTTCTCCTGCTTCTTGTAAGCAAGGACAGCTTTCTTAGCTTGCTGATAGGATGCTGGGCTCGATATTTAGGGTGGGGACCTCTGGGCACCCAGGCTGGGGGCACTGTCTAGGCTCAGTGGTAGGCTCCCCAAAGTGCCCAGGGAGGCCCAGAGTGAAAAAGAAGCTCTGTCCTTACCAGTGTCTCCACCACTACAGGTACCAGGCTGCCTAGGAAGCCAGGTGGTGCCTTTAAGATCTCCATGGAGAAACGCACAGCTCGACGCAGGATCCGACGAAGAACCAGCCTAAAGGGGTTCAGAGCCCAGACATGAATCCCCAGCGGCTCATGGTCAGCAATATGGGGAGTGGGAAGGACGAGGTCCAGTGTGTGCTCCCACCTCAAAGCTCTCCCTCTCCCCATTCCTCCTACTGGCTCAACCAGACCCACCTCTCCTGTTCCCTCCCTCCTCCACCTGAGACCCCCAGCAGCCCCTGTCCTCTCTGTAGCCCTTCCAGACTCACGGGGGACCTGACATCCCAGGGAAGATGCCATCAGAGATGCAGACACTGAGTGTGCGGATGTGGTCAGCCACCACGCGGTACGCTGTGTCTGTGCGCCCCTCGTCTGCCACCCCTACTCGGCCCAAGTAAGGGGGTGCCCTGCAGCCCTGGGAAGCAGAAGAGTCAGCCAGTGGCCCTGCCTGACCTGGCCCAGGTGGGTGCTCTTTATCGCCTCTAGAGCATCTGCCCTCAGCCCTAAAGCCAACCACATCCAGAATGGCCTTGCCAGTCCAGTCCTGGGCTGAGAAGCCTCACAGATGAGCACAAGCCAGGCCCTGCCCTCACGGGGCTCATATTTGGTGCTACAAGTGAACATATCTGTGACCATTTACTGAATTTCTACTATCAGAACTGGGTGAGTACTTGAACAACATGGCCTCGAATCCCCAAAACAGCCCATTCCAGGAGGTATTAGCATGCTTGCTTTAAAGAAGAAGAAGCTGAGGCTCAGAGGAACTCAGTGACACAAGGCTACCCAGCTCTCAAGGAGCAGATCTGAGATCTCAGCCGGGCCTGTTGGACTCCAGGTGCTCTCCACTACCTGTTCTTGCCTCTCCCATCTTTTGTGGGGGTGGGCAGGGAGGGAGAGTGTAAGCTACATACACGGAAATGCTCCAAAGCAGGGAGCTTGATTCACTTACCACCAAACCTCTCTCTTCCCCAAGCTTCTTCGTCTAACAGTCATGCCATTCACTGTGTTGCTCAAGTCAATAGCCTGGGAGCCATCTTTGAATTCTTTTTCCCCTACCCGTCATGATCCATCAGTGGTTCCTTTTGCTCCTACCTCCATGACATCTCTCAAATCAATCTACTTGTCTCTACTTCCACTGCTATTATCCGAAGCATGCCCTGTGGTCCTTGCCTGGACCGATAATAGCCTCCCAACTGATTCCTAAGTTTCTGCTCTCATCTCCCTCCAGCTCATCCTCCACACAGCAACAGGAGTAGCCTTTTAAAAGTGTACATCAGGCTGGGCGCGGTGGCTCACACCTGTAATCTCAACACTTTGGGAGGCTGAGGCGGGTGGATCACCTGAGGTCAGGAGTTTGAGACCAGCCTGGCCAATCCTGGTGAAACCCCATCTGTACTAAAAATACAAAAATTAGTCAGGTGTGTTGGCGGGTGCCTGTAATCCCAGCTACTCTGGAGGCTGAGGCACGAGAATTGCTTGAGCCCCGGAGGCAGAGGTTGCAGTGAGCCGAGATCATGCCACTGCACTCCAGCCTGGACAACAGAGCAAGCAAGACTCTGTCTCAAAAAAAAAAAAGAAGGGTTCTCAGTGGGGAGTGTGGCATGATCTGATGTACACTTTTATTTATTTATTTTTTTTGAGATGAACTCTCACTCTGTTGCCCAGGTTAGAGTGCAGTAGCACGATCTCAGCTTACTGCAACCTCCACCTCCTGGGTTCAAGAGATTCTCCTGCCTCAGCCTCCCAAGTGGCTGGGACTACAGGTGTGTGCCACCATGCCTGGCTGATTTTTCTATTTTTTTAGTAGAGACAGGATTTTGCCATGTTGGCCAGGCTGGTCTCCAACTCCTGACCTCAAGCGATCCGCCCCCCTCTGCCTCCCCAAGTGCTGGGATTACAGGAGTGAGCCACCGTGCCCAGCCCTGAGAACTCTTCTCACCACTCTGAGAATCAAGGCCCCACTTTGGACTTTGAGGCCCACAAGACTGGATTCTGCCTTCTTCTCTGTGAGACTGTTCACAAAAATGGCCCTTTCCTAGGCATATGCCACTTTAAAATGGGACTTTACAGCTGTTTCCCATCAAGGGACAGAATCCATTTCTCCATCCCCTGAATCTCTGCTGGCTTTGTGACTTGCTTTGGCCCATAGAATACAGTGGAAACAACACTGTTCTGAGCCTATGTGTCTGCTCTCTGTCTTGGAACCTTGCTGAGCTGTGATGTGGACAAGCCCAGACTAGCCAGCTAGGTGATGACAGACACATGGTCCAGTCACCCCTACTGCCCCCAAACTGACAGCCAGCCAAGCCCCAGAGGAGCTGCGGCCTCTCAGCTCACCACAGATGGATGAATGAGCTCACACAAGACCAAAGAATGAGCCAGCTAAGCCCAGC
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TGTCCCTGCCACACAGCTGTGGACTCTGCAGCCCTTCTGGAATAAGAACTCAGGGCTTGGCTGGCTGCTAGAGCCCCTGAGCTGGTTGAACCATCCATCATGTCGGCTCCTCGGGATTAGGCCTTCCTGCCCACTGCTGCCCCTGGAGGGCCCCTCTCCAGGAAGCTGTGCTGGCTTCTGCTCCTGTGTTTAGCCCATTGGCTAGTTTTGCTTTCTACTGGTTGTGGCCTGAGGTTTTAGAAACCTCCCAGGTGAGGGGACAGATCCTATCTCAGCCTCTTGATTCCTCTCAATATTCACAGCTCCTCCCCCAGGAGCTCAGGGCTGGGGAAGAGGTGTCCTAACAGAACCCAGCATGGGGTGCCACAGCTTGTACCTGGGCCTCCTCTTGGGCCAACCGCTCCAGTCCAGCGGAGTCTAGCTGGACCCCTTTCTCCTCCAGCATCAGCTCTACCATGTCCAAGGGGAGTCCCAGGTCTCCACACAGTGACAAGGACCAGGCCACTTCAGCTTTGAGAAAGAAAGACAAAGAATGTTGAGGAGGGGAGGGATTAGACAAAGAAGGGGAGAAAAATAAGGTCCAGGGCCCTTCTAACCACGCAGAAGCCACCAGATGCCAAACACAAATACCCGCTCCATACTGGGTAGCCTCAGGAGAGGGGTCACATTCAGGCTTCATGCCTCAAGGCCAGAGCTGGGGGTAGTCCAGGGTACTCCCTGGGCACACATCATTTCAAGGGAGGAGGGAAGCTCAGTCTATGCACGAAGCCAACCTAGGAAAGCAGGAGGCAGGGCTAGCTGGGCACTGTGGACATGGGGAGAGGCAGGGTGGTATTCCTGCTGCAGAGGGGTCTGGGTATGGAAGGAGAGTCCAGGGAGAAAGGAACATTGGGAAGAGGTCAGGGGTGGATATGAGGCATGGGGCTGGCCCAGAGCTCCCTCCTCTGCCCACCTTGGTGAGTCTCAGCGAGCCCCTTGTGCATGGGCTAGGTATCCTGCTTACCAGGGAACATATCTGAAGGCCCCAGGGTCCTCAGAGTCCGATCAATGATCCGCCTACCCCGCTCCAGGGAGGCCAGGAAGGCTGCCTCGTCCTCTGACACCAGGTTGGCGATCTGAACCAGGCAGAGAAGAAGTGGAGCTGGGTCTCCTTGGAAGGAGGGTCTCTCTCCACAACTCTCCCATCAACCCCTTTCTCTCCCACTGGAATCCAGTACCTGGGCTGAGTTCCTTTGCAGTTCTGGATAAGCATCTCCCTGGGGGAGGTGGAGAGGGCTGAGGAGGTGTGAAAGGCAACCAACCCACCCCCACCTCCCCACCCTGGGCCTCCCTGAGGACACCTGCCCTGGAGGCTCAGACACATTGAGGGGCTGGGAGAGGGACTCAAATGGGGAACTGGTTTCCCTGTAGGGTGGCAGAAGGGGGTCCTGAGGTCAAGGGCTGAGCAGTTTGGAAAAGGAGCCTCCTCAAGTTCTCCTGCTTCTTGTAAGCAAGGACAGCTTTCTTAGCTTGCTGATAGGATGCTGGGCTCGATATTTAGGGTGGGGACCTCTGGGCACCCAGGCTGGGGGCACTGTCTAGGCTCAGTGGTAGGCTCCCCAAAGTGCCCAGGGAGGCCCAGAGTGAAAAAGAAGCTCTGTCCTTACCAGTGTCTCCACCACTACAGGTACCAGGCTGCCTAGGAAGCCAGGTGGTGCCTTTAAGATCTCCATGGAGAAACGCACAGCTCGACGCAGGATCCGACGAAGAACCAGCCTAAAGGGGTTCAGAGCCCAGACATGAATCCCCAGCGGCTCATGGTCAGCAATATGGGGAGTGGGAAGGACGAGGTCCAGTGTGTGCTCCCACCTCAAAGCTCTCCCTCTCCCCATTCCTCCTACTGGCTCAACCAGACCCACCTCTCCTGTTCCCTCCCTCCTCCACCTGAGACCCCCAGCAGCCCCTGTCCTCTCTGTAGCCCTTCCAGACTCACGGGGGACCTGACATCCCAGGGAAGATGCCATCAGAGATGCAGACACTGAGTGTGCGGATGTGGTCAGCCACCACGCAGTACGCTGTGTCTGTGCGCCCCTCGTCTGCCACCCCTACTCGGCCCAAGTAAGGGGGTGCCCTGCAGCCCTGGGAAGCAGAAGAGTCAGCCAGTGGCCCTGCCTGACCTGGCCCAGGTGGGTGCTCTTTATCGCCTCTAGAGCATCTGCCCTCAGCCCTAAAGCCAACCACATCCAGAATGGCCTTGCCAGTCCAGTCCTGGGCTGAGAAGCCTCACAGATGAGCACAAGCCAGGCCCTGCCCTCACGGGGCTCATATTTGGTGCTACAAGTGAACATATCTGTGACCATTTACTGAATTTCTACTATCAGAACTGGGTGAGTACTTGAACAACATGGCCTCGAATCCCCAAAACAGCCCATTCCAGGAGGTATTAGCATGCTTGCTTTAAAGAAGAAGAAGCTGAGGCTCAGAGGAACTCAGTGACACAAGGCTACCCAGCTCTCAAGGAGCAGATCTGAGATCTCAGCCGGGCCTGTTGGACTCCAGGTGCTCTCCACTACCTGTTCTTGCCTCTCCCATCTTTTGTGGGGGTGGGCAGGGAGGGAGAGTGTAAGCTACATACACGGAAATGCTCCAAAGCAGGGAGCTTGATTCACTTACCACCAAACCTCTCTCTTCCCCAAGCTTCTTCGTCTAACAGTCATGCCATTCACTGTGTTGCTCAAGTCAATAGCCTGGGAGCCATCTTTGAATTCTTTTTCCCCTACCCGTCATGATCCATCAGTGGTTCCTTTTGCTCCTACCTCCATGACATCTCTCAAATCAATCTACTTGTCTCTACTTCCACTGCTATTATCCGAAGCATGCCCTGTGGTCCTTGCCTGGACCGATAATAGCCTCCCAACTGATTCCTAAGTTTCTGCTCTCATCTCCCTCCAGCTCATCCTCCACACAGCAACAGGAGTAGCCTTTTAAAAGTGTACATCAGGCTGGGCGCGGTGGCTCACACCTGTAATCTCAACACTTTGGGAGGCTGAGGCGGGTGGATCACCTGAGGTCAGGAGTTTGAGACCAGCCTGGCCAATCCTGGTGAAACCCCATCTGTACTAAAAATACAAAAATTAGTCAGGTGTGTTGGCGGGTGCCTGTAATCCCAGCTACTCTGGAGGCTGAGGCACGAGAATTGCTTGAGCCCCGGAGGCAGAGGTTGCAGTGAGCCGAGATCATGCCACTGCACTCCAGCCTGGACAACAGAGCAAGCAAGACTCTGTCTCAAAAAAAAAAAAGAAGGGTTCTCAGTGGGGAGTGTGGCATGATCTGATGTACACTTTTATTTATTTATTTTTTTTGAGATGAACTCTCACTCTGTTGCCCAGGTTAGAGTGCAGTAGCACGATCTCAGCTTACTGCAACCTCCACCTCCTGGGTTCAAGAGATTCTCCTGCCTCAGCCTCCCAAGTGGCTGGGACTACAGGTGTGTGCCACCATGCCTGGCTGATTTTTCTATTTTTTTAGTAGAGACAGGATTTTGCCATGTTGGCCAGGCTGGTCTCCAACTCCTGACCTCAAGCGATCCGCCCCCCTCTGCCTCCCCAAGTGCTGGGATTACAGGAGTGAGCCACCGTGCCCAGCCCTGAGAACTCTTCTCACCACTCTGAGAATCAAGGCCCCACTTTGGACTTTGAGGCCCACAAGACTGGATTCTGCCTTCTTCTCTGTGAGACTGTTCACAAAAATGGCCCTTTCCTAGGCATATGCCACTTTAAAATGGGACTTTACAGCTGTTTCCCATCAAGGGACAGAATCCATTTCTCCATCCCCTGAATCTCTGCTGGCTTTGTGACTTGCTTTGGCCCATAGAATACAGTGGAAACAACACTGTTCTGAGCCTATGTGTCTGCTCTCTGTCTTGGAACCTTGCTGAGCTGTGATGTGGACAAGCCCAGACTAGCCAGCTAGGTGATGACAGACACATGGTCCAGTCACCCCTACTGCCCCCAAACTGACAGCCAGCCAAGCCCCAGAGGAGCTGCGGCCTCTCAGCTCACCACAGATGGATGAATGAGCTCACACAAGACCAAAGAATGAGCCAGCTAAGCCCAGC
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Task1_train_10391
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This sequence change occurs on Chromosome 6, altering AARS2 (alanyl-tRNA synthetase 2, mitochondrial). What is the medical significance of this variant — is it benign or linked to a disease?
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Pathogenic; Combined oxidative phosphorylation defect type 8
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GGCTGAGGCGGGTGGATCACCTGAGGTCAGGAGTTTGAGACCAGCCTGGCCAATCCTGGTGAAACCCCATCTGTACTAAAAATACAAAAATTAGTCAGGTGTGTTGGCGGGTGCCTGTAATCCCAGCTACTCTGGAGGCTGAGGCACGAGAATTGCTTGAGCCCCGGAGGCAGAGGTTGCAGTGAGCCGAGATCATGCCACTGCACTCCAGCCTGGACAACAGAGCAAGCAAGACTCTGTCTCAAAAAAAAAAAAGAAGGGTTCTCAGTGGGGAGTGTGGCATGATCTGATGTACACTTTTATTTATTTATTTTTTTTGAGATGAACTCTCACTCTGTTGCCCAGGTTAGAGTGCAGTAGCACGATCTCAGCTTACTGCAACCTCCACCTCCTGGGTTCAAGAGATTCTCCTGCCTCAGCCTCCCAAGTGGCTGGGACTACAGGTGTGTGCCACCATGCCTGGCTGATTTTTCTATTTTTTTAGTAGAGACAGGATTTTGCCATGTTGGCCAGGCTGGTCTCCAACTCCTGACCTCAAGCGATCCGCCCCCCTCTGCCTCCCCAAGTGCTGGGATTACAGGAGTGAGCCACCGTGCCCAGCCCTGAGAACTCTTCTCACCACTCTGAGAATCAAGGCCCCACTTTGGACTTTGAGGCCCACAAGACTGGATTCTGCCTTCTTCTCTGTGAGACTGTTCACAAAAATGGCCCTTTCCTAGGCATATGCCACTTTAAAATGGGACTTTACAGCTGTTTCCCATCAAGGGACAGAATCCATTTCTCCATCCCCTGAATCTCTGCTGGCTTTGTGACTTGCTTTGGCCCATAGAATACAGTGGAAACAACACTGTTCTGAGCCTATGTGTCTGCTCTCTGTCTTGGAACCTTGCTGAGCTGTGATGTGGACAAGCCCAGACTAGCCAGCTAGGTGATGACAGACACATGGTCCAGTCACCCCTACTGCCCCCAAACTGACAGCCAGCCAAGCCCCAGAGGAGCTGCGGCCTCTCAGCTCACCACAGATGGATGAATGAGCTCACACAAGACCAAAGAATGAGCCAGCTAAGCCCAGCCTAAACGCTAGCTCACAGACTCAGGGGGCAGATACATGGTTGTTGGTTAAGCCACAGAGCATTAGGGTGGTTATACAGCAAAAGCCAACTGACACATGTTCCTACTATATCCCATGGGATTCTCCTTTAGCTGGCTGGCCACCTTTTAGTTTTTGGCACATGTCAAGCCCTTTCTTGCGGGGCAAGGAGGGAGGGTATAAGCTACACACATGTGGAAATGCTCCAAAGCAGGGAGCTTGATTCACCTAGCTCCAAACCTCTCTCTTCCCCAAGCTTCTTCATCTCAGTAAACAGTCATGCCATTCACTGTGTTGCTCAAGCCAATAGCCTGGGAGCCATCTTTGATTTCTCTTTCCCCTCCCCATCTAATCCATCAGTACCAAGGCCCTTGGTACCTGCTGTCCCCTCTGCCTGGAAAGAACTTCCTGTAGCTGACTCCTCCTTTGGGGCTCAGCTCAAAGGTCATCTTCTTGGTGAGCCTTCCCCAAGCACCTTATCTAAGATTCCTCTGTACCCCTCCTTCTTCCTAGTTACTTTCACCCATGTTTACTGCCTGTTCACAATCTGTAAGCTATTACCTTGTTCTTTAACACATTTATTGATTGTCTATCTCTCATGCTAGCATATAATCTCCATGATCTCTTTCCTGCTTACTGCTGTGTCTTCTGTACCAAACACAAAGGATTTAACATAAAGTAAGCACTCAACACGTATTTTCTAAATAAATGAAAGAGGCAAGGAGTTAGGAGGAACATCAGGTAATAAGTAATGAATCCTAGTGTCTTGCTTGACGTCTTGGAATTCTTGGTTGGTTATTGTCCTCAGATGCTGAGAACACTCTGAGTTCTCAACAAAGATGGAATGCAATGGGGCTGAGGGCTGTGAAGAGCAGGTTAGAGGGCTTCTGGAAGGGAAGAGGCACTCACCTGCTGTATGGCGTTGAGCAGCGGGGAAAAGAGGTCAGTGTCATAGGTGGAGTGTTTGCCTTGCAGCACAGCCACCAGCCTTTCCAGGCCCATTCCTGTGTCCACATGCCGCTGGGGCAGGGGCTGCAGGCTTCCATCTGCCTCTCTGGCCAGGGAAGGTGTGCAAGGTGAGGCCCCACCCAGGATTACAGGTGTGAGACAGATGCCCAAGTGGAGTAGAGAAATGGGGGGGGGCCCAAGGGAGCTGACAGTGGGAGGAACCAGACAATCAGTATCTTCCCCTGCCACCCTGCAATAGCAGATGATGATGGCCTTGGGGTCCTGTCCTTCCTCATATAGGGCTATTTCCATTCTCACCCCTGCTTGGGCCCTTGCCTGGGCACCAGACATCCCATCTTGGGACAGAATTCTTTGCCCCTAGAAAGATATGTCAAGGCTAGAAGAAAATCTGAGATCATCAAGTTCAACTCGTTGATCATCAAGTTCAACAGAGAATAGCAGTGACTTGTTTAAGCTGTCACAGGCAAAGACTACAATTAAATCAGTTATTATCTATAAGGTGTTGAGAATTGTGCCTGACACACGGTAAGCACCGTTTACATGTTTGTTTTTATATGAAACAGATCAAAGTCTTCTAATTGCCACCTTTCCCACTTCTAGTCAGGGATTCTCATCCTGCTTCAGCACCCTATTACCTGTTGTGTTGCATGAAGACCAGGTTCCAAAGCTCTACCAGCTGGGGGGCTCCCACCCCACCAGCAAGGTCGTAGTGGATCTCAGTACAGGGCCCACAAGGGCCAGTATCCCCCATCTCCCAGAAGTTCTCTTGTGGTCCAAAGGAAAGCACACGGCTAGCAGGCACCCTGGGGAGAAAAGCAGGTGAGTGGTGGGAGACAGACAGACCCAGAAGCTGGGACTCTCTCTGCCATGAGAGCCCCTCCCTCAAGTCACAGCTCAGCAAGAGGAGGAACAGGGCTGACCCCACAATATCCTGGAATGAAATGCTAAGACTCTGAGGATTGGTGCTGGTAGTCTCCACTTTCCAGTCCTCCTGACCTCCAGGAATGAACATAAGAAGGGGGCTGACTTACCCTAAGCTCAGCCAGATGTCCCTGGTCTCCAGGTCTGGGTCCAGCCCTGCCTTGGGGTCACCATCAAAGTAGGAGATCCAGAGCCTTTCCTCAGGGATCCCATAGACCTGAGTCAGCAGTTCCCAGGCCATGTTACAAGCCTCCTCCTGCAGCAGAAACCAGCATGGGGTGGGGGGGGAAGACGGGTGAGAGGGAGACCCCACTGAAGTAATCAAGCCACATGAGTTTAGCTCCCGACTTAAGACAAAAGCATTTCTGCTGCCATCTTGTTCCCAGAATAAGCCATGAACCATTACTGCCTCTGAGTGTTTTCCTGCCCAGAAAGCTTCCCCCTTCTTCTAAGTCCTATCTTCTTTCAAGTCCCAGACCAAGTCCCACTTTCACATGAAATTCTCTGCCTACTCTAGCCTAGAGTGATCTTTAACTCCAGTAAGCACCTTAGCATTGCTGTTTGACCATTTATTCAAACAACAATTTTTGAGTGATCATTAGGCAGAAAGTACAGTCTCTGCCCTTCAGGGACTTACAATCCAATCAGGGAGGTGAGGTAATTCCTGTTACACCGGCTCAACTAGCACTTTGCCTCCACATCTGGTATGAGGCCCTGCCTAAGCAGACAGTACAATGGAAACAGGACAAATTGACTCCCTTCTTGGCTGATCACTGATCCCCAGAGACTCACCTTAAAATATTCACCCCCAAAGGCCCAATTGCCAAGCATTTCAAAGAAGGTATGATGGGAAAGGTCTCGACCCACATCTTCCAGGTCGTTATGGTGTCCTCCAGCTCTCACACATTTCTGGCTGTTGGCCACACGTCGGAAGCCTGCCATCTCGCTTCGTGGATCCACGGTGCCCAGAAAGATTGGCTTGAACTGGAAGCACATAGAGTGGGGAGGGGGAGAGGGATATCCAATTTCTCAGTAGAAGGGAAATGTGGGGAGTGAGGATAGGGATGGCTGTTCAGACCGAAGGCTGACTGTGCCCCTGAGAGTGCAGTGTAATCT
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GGCTGAGGCGGGTGGATCACCTGAGGTCAGGAGTTTGAGACCAGCCTGGCCAATCCTGGTGAAACCCCATCTGTACTAAAAATACAAAAATTAGTCAGGTGTGTTGGCGGGTGCCTGTAATCCCAGCTACTCTGGAGGCTGAGGCACGAGAATTGCTTGAGCCCCGGAGGCAGAGGTTGCAGTGAGCCGAGATCATGCCACTGCACTCCAGCCTGGACAACAGAGCAAGCAAGACTCTGTCTCAAAAAAAAAAAAGAAGGGTTCTCAGTGGGGAGTGTGGCATGATCTGATGTACACTTTTATTTATTTATTTTTTTTGAGATGAACTCTCACTCTGTTGCCCAGGTTAGAGTGCAGTAGCACGATCTCAGCTTACTGCAACCTCCACCTCCTGGGTTCAAGAGATTCTCCTGCCTCAGCCTCCCAAGTGGCTGGGACTACAGGTGTGTGCCACCATGCCTGGCTGATTTTTCTATTTTTTTAGTAGAGACAGGATTTTGCCATGTTGGCCAGGCTGGTCTCCAACTCCTGACCTCAAGCGATCCGCCCCCCTCTGCCTCCCCAAGTGCTGGGATTACAGGAGTGAGCCACCGTGCCCAGCCCTGAGAACTCTTCTCACCACTCTGAGAATCAAGGCCCCACTTTGGACTTTGAGGCCCACAAGACTGGATTCTGCCTTCTTCTCTGTGAGACTGTTCACAAAAATGGCCCTTTCCTAGGCATATGCCACTTTAAAATGGGACTTTACAGCTGTTTCCCATCAAGGGACAGAATCCATTTCTCCATCCCCTGAATCTCTGCTGGCTTTGTGACTTGCTTTGGCCCATAGAATACAGTGGAAACAACACTGTTCTGAGCCTATGTGTCTGCTCTCTGTCTTGGAACCTTGCTGAGCTGTGATGTGGACAAGCCCAGACTAGCCAGCTAGGTGATGACAGACACATGGTCCAGTCACCCCTACTGCCCCCAAACTGACAGCCAGCCAAGCCCCAGAGGAGCTGCGGCCTCTCAGCTCACCACAGATGGATGAATGAGCTCACACAAGACCAAAGAATGAGCCAGCTAAGCCCAGCCTAAACGCTAGCTCACAGACTCAGGGGGCAGATACATGGTTGTTGGTTAAGCCACAGAGCATTAGGGTGGTTATACAGCAAAAGCCAACTGACACATGTTCCTACTATATCCCATGGGATTCTCCTTTAGCTGGCTGGCCACCTTTTAGTTTTTGGCACATGTCAAGCCCTTTCTTGCGGGGCAAGGAGGGAGGGTATAAGCTACACACATGTGGAAATGCTCCAAAGCAGGGAGCTTGATTCACCTAGCTCCAAACCTCTCTCTTCCCCAAGCTTCTTCATCTCAGTAAACAGTCATGCCATTCACTGTGTTGCTCAAGCCAATAGCCTGGGAGCCATCTTTGATTTCTCTTTCCCCTCCCCATCTAATCCATCAGTACCAAGGCCCTTGGTACCTGCTGTCCCCTCTGCCTGGAAAGAACTTCCTGTAGCTGACTCCTCCTTTGGGGCTCAGCTCAAAGGTCATCTTCTTGGTGAGCCTTCCCCAAGCACCTTATCTAAGATTCCTCTGTACCCCTCCTTCTTCCTAGTTACTTTCACCCATGTTTACTGCCTGTTCACAATCTGTAAGCTATTACCTTGTTCTTTAACACATTTATTGATTGTCTATCTCTCATGCTAGCATATAATCTCCATGATCTCTTTCCTGCTTACTGCTGTGTCTTCTGTACCAAACACAAAGGATTTAACATAAAGTAAGCACTCAACACGTATTTTCTAAATAAATGAAAGAGGCAAGGAGTTAGGAGGAACATCAGGTAATAAGTAATGAATCCTAGTGTCTTGCTTGACGTCTTGGAATTCTTGGTTGGTTATTGTCCTCAGATGCTGAGAACACTCTGAGTTCTCAACAAAGATGGAATGCAATGGGGCTGAGGGCTGTGAAGAGCAGGTTAGAGGGCTTCTGGAAGGGAAGAGGCACTCACCTGCTGTATGGCGTTGAGCAGCGGGGAAAAGAGGTCAGTGTCATAGGTGCAGTGTTTGCCTTGCAGCACAGCCACCAGCCTTTCCAGGCCCATTCCTGTGTCCACATGCCGCTGGGGCAGGGGCTGCAGGCTTCCATCTGCCTCTCTGGCCAGGGAAGGTGTGCAAGGTGAGGCCCCACCCAGGATTACAGGTGTGAGACAGATGCCCAAGTGGAGTAGAGAAATGGGGGGGGGCCCAAGGGAGCTGACAGTGGGAGGAACCAGACAATCAGTATCTTCCCCTGCCACCCTGCAATAGCAGATGATGATGGCCTTGGGGTCCTGTCCTTCCTCATATAGGGCTATTTCCATTCTCACCCCTGCTTGGGCCCTTGCCTGGGCACCAGACATCCCATCTTGGGACAGAATTCTTTGCCCCTAGAAAGATATGTCAAGGCTAGAAGAAAATCTGAGATCATCAAGTTCAACTCGTTGATCATCAAGTTCAACAGAGAATAGCAGTGACTTGTTTAAGCTGTCACAGGCAAAGACTACAATTAAATCAGTTATTATCTATAAGGTGTTGAGAATTGTGCCTGACACACGGTAAGCACCGTTTACATGTTTGTTTTTATATGAAACAGATCAAAGTCTTCTAATTGCCACCTTTCCCACTTCTAGTCAGGGATTCTCATCCTGCTTCAGCACCCTATTACCTGTTGTGTTGCATGAAGACCAGGTTCCAAAGCTCTACCAGCTGGGGGGCTCCCACCCCACCAGCAAGGTCGTAGTGGATCTCAGTACAGGGCCCACAAGGGCCAGTATCCCCCATCTCCCAGAAGTTCTCTTGTGGTCCAAAGGAAAGCACACGGCTAGCAGGCACCCTGGGGAGAAAAGCAGGTGAGTGGTGGGAGACAGACAGACCCAGAAGCTGGGACTCTCTCTGCCATGAGAGCCCCTCCCTCAAGTCACAGCTCAGCAAGAGGAGGAACAGGGCTGACCCCACAATATCCTGGAATGAAATGCTAAGACTCTGAGGATTGGTGCTGGTAGTCTCCACTTTCCAGTCCTCCTGACCTCCAGGAATGAACATAAGAAGGGGGCTGACTTACCCTAAGCTCAGCCAGATGTCCCTGGTCTCCAGGTCTGGGTCCAGCCCTGCCTTGGGGTCACCATCAAAGTAGGAGATCCAGAGCCTTTCCTCAGGGATCCCATAGACCTGAGTCAGCAGTTCCCAGGCCATGTTACAAGCCTCCTCCTGCAGCAGAAACCAGCATGGGGTGGGGGGGGAAGACGGGTGAGAGGGAGACCCCACTGAAGTAATCAAGCCACATGAGTTTAGCTCCCGACTTAAGACAAAAGCATTTCTGCTGCCATCTTGTTCCCAGAATAAGCCATGAACCATTACTGCCTCTGAGTGTTTTCCTGCCCAGAAAGCTTCCCCCTTCTTCTAAGTCCTATCTTCTTTCAAGTCCCAGACCAAGTCCCACTTTCACATGAAATTCTCTGCCTACTCTAGCCTAGAGTGATCTTTAACTCCAGTAAGCACCTTAGCATTGCTGTTTGACCATTTATTCAAACAACAATTTTTGAGTGATCATTAGGCAGAAAGTACAGTCTCTGCCCTTCAGGGACTTACAATCCAATCAGGGAGGTGAGGTAATTCCTGTTACACCGGCTCAACTAGCACTTTGCCTCCACATCTGGTATGAGGCCCTGCCTAAGCAGACAGTACAATGGAAACAGGACAAATTGACTCCCTTCTTGGCTGATCACTGATCCCCAGAGACTCACCTTAAAATATTCACCCCCAAAGGCCCAATTGCCAAGCATTTCAAAGAAGGTATGATGGGAAAGGTCTCGACCCACATCTTCCAGGTCGTTATGGTGTCCTCCAGCTCTCACACATTTCTGGCTGTTGGCCACACGTCGGAAGCCTGCCATCTCGCTTCGTGGATCCACGGTGCCCAGAAAGATTGGCTTGAACTGGAAGCACATAGAGTGGGGAGGGGGAGAGGGATATCCAATTTCTCAGTAGAAGGGAAATGTGGGGAGTGAGGATAGGGATGGCTGTTCAGACCGAAGGCTGACTGTGCCCCTGAGAGTGCAGTGTAATCT
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Task1_train_10392
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A variant has been detected on Chromosome 6 in AARS2 (alanyl-tRNA synthetase 2, mitochondrial). What is its effect — pathogenic or benign? If pathogenic, name the disease.
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Pathogenic; Combined oxidative phosphorylation defect type 8
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AACTGACACATGTTCCTACTATATCCCATGGGATTCTCCTTTAGCTGGCTGGCCACCTTTTAGTTTTTGGCACATGTCAAGCCCTTTCTTGCGGGGCAAGGAGGGAGGGTATAAGCTACACACATGTGGAAATGCTCCAAAGCAGGGAGCTTGATTCACCTAGCTCCAAACCTCTCTCTTCCCCAAGCTTCTTCATCTCAGTAAACAGTCATGCCATTCACTGTGTTGCTCAAGCCAATAGCCTGGGAGCCATCTTTGATTTCTCTTTCCCCTCCCCATCTAATCCATCAGTACCAAGGCCCTTGGTACCTGCTGTCCCCTCTGCCTGGAAAGAACTTCCTGTAGCTGACTCCTCCTTTGGGGCTCAGCTCAAAGGTCATCTTCTTGGTGAGCCTTCCCCAAGCACCTTATCTAAGATTCCTCTGTACCCCTCCTTCTTCCTAGTTACTTTCACCCATGTTTACTGCCTGTTCACAATCTGTAAGCTATTACCTTGTTCTTTAACACATTTATTGATTGTCTATCTCTCATGCTAGCATATAATCTCCATGATCTCTTTCCTGCTTACTGCTGTGTCTTCTGTACCAAACACAAAGGATTTAACATAAAGTAAGCACTCAACACGTATTTTCTAAATAAATGAAAGAGGCAAGGAGTTAGGAGGAACATCAGGTAATAAGTAATGAATCCTAGTGTCTTGCTTGACGTCTTGGAATTCTTGGTTGGTTATTGTCCTCAGATGCTGAGAACACTCTGAGTTCTCAACAAAGATGGAATGCAATGGGGCTGAGGGCTGTGAAGAGCAGGTTAGAGGGCTTCTGGAAGGGAAGAGGCACTCACCTGCTGTATGGCGTTGAGCAGCGGGGAAAAGAGGTCAGTGTCATAGGTGGAGTGTTTGCCTTGCAGCACAGCCACCAGCCTTTCCAGGCCCATTCCTGTGTCCACATGCCGCTGGGGCAGGGGCTGCAGGCTTCCATCTGCCTCTCTGGCCAGGGAAGGTGTGCAAGGTGAGGCCCCACCCAGGATTACAGGTGTGAGACAGATGCCCAAGTGGAGTAGAGAAATGGGGGGGGGCCCAAGGGAGCTGACAGTGGGAGGAACCAGACAATCAGTATCTTCCCCTGCCACCCTGCAATAGCAGATGATGATGGCCTTGGGGTCCTGTCCTTCCTCATATAGGGCTATTTCCATTCTCACCCCTGCTTGGGCCCTTGCCTGGGCACCAGACATCCCATCTTGGGACAGAATTCTTTGCCCCTAGAAAGATATGTCAAGGCTAGAAGAAAATCTGAGATCATCAAGTTCAACTCGTTGATCATCAAGTTCAACAGAGAATAGCAGTGACTTGTTTAAGCTGTCACAGGCAAAGACTACAATTAAATCAGTTATTATCTATAAGGTGTTGAGAATTGTGCCTGACACACGGTAAGCACCGTTTACATGTTTGTTTTTATATGAAACAGATCAAAGTCTTCTAATTGCCACCTTTCCCACTTCTAGTCAGGGATTCTCATCCTGCTTCAGCACCCTATTACCTGTTGTGTTGCATGAAGACCAGGTTCCAAAGCTCTACCAGCTGGGGGGCTCCCACCCCACCAGCAAGGTCGTAGTGGATCTCAGTACAGGGCCCACAAGGGCCAGTATCCCCCATCTCCCAGAAGTTCTCTTGTGGTCCAAAGGAAAGCACACGGCTAGCAGGCACCCTGGGGAGAAAAGCAGGTGAGTGGTGGGAGACAGACAGACCCAGAAGCTGGGACTCTCTCTGCCATGAGAGCCCCTCCCTCAAGTCACAGCTCAGCAAGAGGAGGAACAGGGCTGACCCCACAATATCCTGGAATGAAATGCTAAGACTCTGAGGATTGGTGCTGGTAGTCTCCACTTTCCAGTCCTCCTGACCTCCAGGAATGAACATAAGAAGGGGGCTGACTTACCCTAAGCTCAGCCAGATGTCCCTGGTCTCCAGGTCTGGGTCCAGCCCTGCCTTGGGGTCACCATCAAAGTAGGAGATCCAGAGCCTTTCCTCAGGGATCCCATAGACCTGAGTCAGCAGTTCCCAGGCCATGTTACAAGCCTCCTCCTGCAGCAGAAACCAGCATGGGGTGGGGGGGGAAGACGGGTGAGAGGGAGACCCCACTGAAGTAATCAAGCCACATGAGTTTAGCTCCCGACTTAAGACAAAAGCATTTCTGCTGCCATCTTGTTCCCAGAATAAGCCATGAACCATTACTGCCTCTGAGTGTTTTCCTGCCCAGAAAGCTTCCCCCTTCTTCTAAGTCCTATCTTCTTTCAAGTCCCAGACCAAGTCCCACTTTCACATGAAATTCTCTGCCTACTCTAGCCTAGAGTGATCTTTAACTCCAGTAAGCACCTTAGCATTGCTGTTTGACCATTTATTCAAACAACAATTTTTGAGTGATCATTAGGCAGAAAGTACAGTCTCTGCCCTTCAGGGACTTACAATCCAATCAGGGAGGTGAGGTAATTCCTGTTACACCGGCTCAACTAGCACTTTGCCTCCACATCTGGTATGAGGCCCTGCCTAAGCAGACAGTACAATGGAAACAGGACAAATTGACTCCCTTCTTGGCTGATCACTGATCCCCAGAGACTCACCTTAAAATATTCACCCCCAAAGGCCCAATTGCCAAGCATTTCAAAGAAGGTATGATGGGAAAGGTCTCGACCCACATCTTCCAGGTCGTTATGGTGTCCTCCAGCTCTCACACATTTCTGGCTGTTGGCCACACGTCGGAAGCCTGCCATCTCGCTTCGTGGATCCACGGTGCCCAGAAAGATTGGCTTGAACTGGAAGCACATAGAGTGGGGAGGGGGAGAGGGATATCCAATTTCTCAGTAGAAGGGAAATGTGGGGAGTGAGGATAGGGATGGCTGTTCAGACCGAAGGCTGACTGTGCCCCTGAGAGTGCAGTGTAATCTTGGTCTATGAGGACAAACTGGGAGCCTCGGGACAGCCATCTCTGGTGTGTGGGGAGCAGAGAAGAGGTAAACAAATCATGAACCGGAGACCCTCTGCCTAGTAAAATAGGCAAGGTAAAAGAAGGAGGAATGTGTTGGGAGCTGGAAATGGGACGCTGAAAGGTGGCATCCTCCGTCTCAGCTTCTTCAACCACACCCAATAACTTCAGGGAACAAAACTGAGACTCATTTAGTAGGGAGCCCAGACGGCCTCTAAGGTTAACTTATGCCGCCCCTATTTTACAGATGAGGACAATGAAGTCTAGAAAAGATGAGTGGTTGATAAAAACCAAAACCTTAGAGAATAGTACTCAGCAAACAATAGGTGATCAATAAACATTTAATGAAAGCGTTATCTTTATTTAAATAACGAATAAATGAAATCAGACTTCTCCCTCGGGATTCCACTCCAGCCATTTCTGGACCTAATACTCAATCCCAATCCAGAAGTTCCCAGCTCAAGCCCTCCCCAAGCCCTCCCTATACTCTGAGCGCCGTACCCCCATCACTTTACCCAACCAAGCACCGCCCTCTTTCCCCAAAAGCTACGAACTCCGCCTCTCGCTTCTTTTGCCCAATCCTGCAGCGTCTTTCTCACCAGAAAACTCACGAACTCCGCTCCCTATCAGTATGGTTCGGCCCTCACCTGGTTCATGCCCGCATTGACAAAAAGCAAACTGGGGTCGCCGCGGGGCCGCACGGAAGCGGAGGGCACCAGCCGGTGGCCATGGCGGTCCCGAAAGAAGTTCAGAAAGGCGGCCCTCACGGCCGAGGCCTTGGCTGCAGGGGGCTCCGATGAGAGCGGCCGATGGCTGAGGCCCCGCCATGCGGGCGACCTTCGAATGGCCCGCCGCAGCCTCCGGGCTGCAGCTGCCACTGACGCTGCCATCGTAGCTCCGGGCAGTGACTTTACGTGGTCAAAGAGTGACGAGGGAAGGAAGCCAGGCGTTTCCTACAGCGGCCCCTGGCGGTAGGAGGACTCAGGGGGCGGCCTCTGCCGCCGGGGTGGAAGCGATCGATTGGGTCGCTGGCAGAGTCTAGCACAGCGCCCGGCACATAGTAGGCTCTTAATTCATTCGGCATTAAGCAAATATTCATTGAGAGCCTACTATGTGCTAGG
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AACTGACACATGTTCCTACTATATCCCATGGGATTCTCCTTTAGCTGGCTGGCCACCTTTTAGTTTTTGGCACATGTCAAGCCCTTTCTTGCGGGGCAAGGAGGGAGGGTATAAGCTACACACATGTGGAAATGCTCCAAAGCAGGGAGCTTGATTCACCTAGCTCCAAACCTCTCTCTTCCCCAAGCTTCTTCATCTCAGTAAACAGTCATGCCATTCACTGTGTTGCTCAAGCCAATAGCCTGGGAGCCATCTTTGATTTCTCTTTCCCCTCCCCATCTAATCCATCAGTACCAAGGCCCTTGGTACCTGCTGTCCCCTCTGCCTGGAAAGAACTTCCTGTAGCTGACTCCTCCTTTGGGGCTCAGCTCAAAGGTCATCTTCTTGGTGAGCCTTCCCCAAGCACCTTATCTAAGATTCCTCTGTACCCCTCCTTCTTCCTAGTTACTTTCACCCATGTTTACTGCCTGTTCACAATCTGTAAGCTATTACCTTGTTCTTTAACACATTTATTGATTGTCTATCTCTCATGCTAGCATATAATCTCCATGATCTCTTTCCTGCTTACTGCTGTGTCTTCTGTACCAAACACAAAGGATTTAACATAAAGTAAGCACTCAACACGTATTTTCTAAATAAATGAAAGAGGCAAGGAGTTAGGAGGAACATCAGGTAATAAGTAATGAATCCTAGTGTCTTGCTTGACGTCTTGGAATTCTTGGTTGGTTATTGTCCTCAGATGCTGAGAACACTCTGAGTTCTCAACAAAGATGGAATGCAATGGGGCTGAGGGCTGTGAAGAGCAGGTTAGAGGGCTTCTGGAAGGGAAGAGGCACTCACCTGCTGTATGGCGTTGAGCAGCGGGGAAAAGAGGTCAGTGTCATAGGTGGAGTGTTTGCCTTGCAGCACAGCCACCAGCCTTTCCAGGCCCATTCCTGTGTCCACATGCCGCTGGGGCAGGGGCTGCAGGCTTCCATCTGCCTCTCTGGCCAGGGAAGGTGTGCAAGGTGAGGCCCCACCCAGGATTACAGGTGTGAGACAGATGCCCAAGTGGAGTAGAGAAATGGGGGGGGGCCCAAGGGAGCTGACAGTGGGAGGAACCAGACAATCAGTATCTTCCCCTGCCACCCTGCAATAGCAGATGATGATGGCCTTGGGGTCCTGTCCTTCCTCATATAGGGCTATTTCCATTCTCACCCCTGCTTGGGCCCTTGCCTGGGCACCAGACATCCCATCTTGGGACAGAATTCTTTGCCCCTAGAAAGATATGTCAAGGCTAGAAGAAAATCTGAGATCATCAAGTTCAACTCGTTGATCATCAAGTTCAACAGAGAATAGCAGTGACTTGTTTAAGCTGTCACAGGCAAAGACTACAATTAAATCAGTTATTATCTATAAGGTGTTGAGAATTGTGCCTGACACACGGTAAGCACCGTTTACATGTTTGTTTTTATATGAAACAGATCAAAGTCTTCTAATTGCCACCTTTCCCACTTCTAGTCAGGGATTCTCATCCTGCTTCAGCACCCTATTACCTGTTGTGTTGCATGAAGACCAGGTTCCAAAGCTCTACCAGCTGGGGGGCTCCCACCCCACCAGCAAGGTCGTAGTGGATCTCAGTACAGGGCCCACAAGGGCCAGTATCCCCCATCTCCCAGAAGTTCTCTTGTGGTCCAAAGGAAAGCACACGGCTAGCAGGCACCCTGGGGAGAAAAGCAGGTGAGTGGTGGGAGACAGACAGACCCAGAAGCTGGGACTCTCTCTGCCATGAGAGCCCCTCCCTCAAGTCACAGCTCAGCAAGAGGAGGAACAGGGCTGACCCCACAATATCCTGGAATGAAATGCTAAGACTCTGAGGATTGGTGCTGGTAGTCTCCACTTTCCAGTCCTCCTGACCTCCAGGAATGAACATAAGAAGGGGGCTGACTTACCCTAAGCTCAGCCAGATGTCCCTGGTCTCCAGGTCTGGGTCCAGCCCTGCCTTGGGGTCACCATCAAAGTAGGAGATCCAGAGCCTTTCCTCAGGGATCCCATAGACCTGAGTCAGCCGTTCCCAGGCCATGTTACAAGCCTCCTCCTGCAGCAGAAACCAGCATGGGGTGGGGGGGGAAGACGGGTGAGAGGGAGACCCCACTGAAGTAATCAAGCCACATGAGTTTAGCTCCCGACTTAAGACAAAAGCATTTCTGCTGCCATCTTGTTCCCAGAATAAGCCATGAACCATTACTGCCTCTGAGTGTTTTCCTGCCCAGAAAGCTTCCCCCTTCTTCTAAGTCCTATCTTCTTTCAAGTCCCAGACCAAGTCCCACTTTCACATGAAATTCTCTGCCTACTCTAGCCTAGAGTGATCTTTAACTCCAGTAAGCACCTTAGCATTGCTGTTTGACCATTTATTCAAACAACAATTTTTGAGTGATCATTAGGCAGAAAGTACAGTCTCTGCCCTTCAGGGACTTACAATCCAATCAGGGAGGTGAGGTAATTCCTGTTACACCGGCTCAACTAGCACTTTGCCTCCACATCTGGTATGAGGCCCTGCCTAAGCAGACAGTACAATGGAAACAGGACAAATTGACTCCCTTCTTGGCTGATCACTGATCCCCAGAGACTCACCTTAAAATATTCACCCCCAAAGGCCCAATTGCCAAGCATTTCAAAGAAGGTATGATGGGAAAGGTCTCGACCCACATCTTCCAGGTCGTTATGGTGTCCTCCAGCTCTCACACATTTCTGGCTGTTGGCCACACGTCGGAAGCCTGCCATCTCGCTTCGTGGATCCACGGTGCCCAGAAAGATTGGCTTGAACTGGAAGCACATAGAGTGGGGAGGGGGAGAGGGATATCCAATTTCTCAGTAGAAGGGAAATGTGGGGAGTGAGGATAGGGATGGCTGTTCAGACCGAAGGCTGACTGTGCCCCTGAGAGTGCAGTGTAATCTTGGTCTATGAGGACAAACTGGGAGCCTCGGGACAGCCATCTCTGGTGTGTGGGGAGCAGAGAAGAGGTAAACAAATCATGAACCGGAGACCCTCTGCCTAGTAAAATAGGCAAGGTAAAAGAAGGAGGAATGTGTTGGGAGCTGGAAATGGGACGCTGAAAGGTGGCATCCTCCGTCTCAGCTTCTTCAACCACACCCAATAACTTCAGGGAACAAAACTGAGACTCATTTAGTAGGGAGCCCAGACGGCCTCTAAGGTTAACTTATGCCGCCCCTATTTTACAGATGAGGACAATGAAGTCTAGAAAAGATGAGTGGTTGATAAAAACCAAAACCTTAGAGAATAGTACTCAGCAAACAATAGGTGATCAATAAACATTTAATGAAAGCGTTATCTTTATTTAAATAACGAATAAATGAAATCAGACTTCTCCCTCGGGATTCCACTCCAGCCATTTCTGGACCTAATACTCAATCCCAATCCAGAAGTTCCCAGCTCAAGCCCTCCCCAAGCCCTCCCTATACTCTGAGCGCCGTACCCCCATCACTTTACCCAACCAAGCACCGCCCTCTTTCCCCAAAAGCTACGAACTCCGCCTCTCGCTTCTTTTGCCCAATCCTGCAGCGTCTTTCTCACCAGAAAACTCACGAACTCCGCTCCCTATCAGTATGGTTCGGCCCTCACCTGGTTCATGCCCGCATTGACAAAAAGCAAACTGGGGTCGCCGCGGGGCCGCACGGAAGCGGAGGGCACCAGCCGGTGGCCATGGCGGTCCCGAAAGAAGTTCAGAAAGGCGGCCCTCACGGCCGAGGCCTTGGCTGCAGGGGGCTCCGATGAGAGCGGCCGATGGCTGAGGCCCCGCCATGCGGGCGACCTTCGAATGGCCCGCCGCAGCCTCCGGGCTGCAGCTGCCACTGACGCTGCCATCGTAGCTCCGGGCAGTGACTTTACGTGGTCAAAGAGTGACGAGGGAAGGAAGCCAGGCGTTTCCTACAGCGGCCCCTGGCGGTAGGAGGACTCAGGGGGCGGCCTCTGCCGCCGGGGTGGAAGCGATCGATTGGGTCGCTGGCAGAGTCTAGCACAGCGCCCGGCACATAGTAGGCTCTTAATTCATTCGGCATTAAGCAAATATTCATTGAGAGCCTACTATGTGCTAGG
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Task1_train_10393
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A mutation found in AARS2 (alanyl-tRNA synthetase 2, mitochondrial) on Chromosome 6 may be clinically relevant. Is it pathogenic or benign, and if the former, which disease is implicated?
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Pathogenic; Leukoencephalopathy, progressive, with ovarian failure
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GTGGTCCAAAGGAAAGCACACGGCTAGCAGGCACCCTGGGGAGAAAAGCAGGTGAGTGGTGGGAGACAGACAGACCCAGAAGCTGGGACTCTCTCTGCCATGAGAGCCCCTCCCTCAAGTCACAGCTCAGCAAGAGGAGGAACAGGGCTGACCCCACAATATCCTGGAATGAAATGCTAAGACTCTGAGGATTGGTGCTGGTAGTCTCCACTTTCCAGTCCTCCTGACCTCCAGGAATGAACATAAGAAGGGGGCTGACTTACCCTAAGCTCAGCCAGATGTCCCTGGTCTCCAGGTCTGGGTCCAGCCCTGCCTTGGGGTCACCATCAAAGTAGGAGATCCAGAGCCTTTCCTCAGGGATCCCATAGACCTGAGTCAGCAGTTCCCAGGCCATGTTACAAGCCTCCTCCTGCAGCAGAAACCAGCATGGGGTGGGGGGGGAAGACGGGTGAGAGGGAGACCCCACTGAAGTAATCAAGCCACATGAGTTTAGCTCCCGACTTAAGACAAAAGCATTTCTGCTGCCATCTTGTTCCCAGAATAAGCCATGAACCATTACTGCCTCTGAGTGTTTTCCTGCCCAGAAAGCTTCCCCCTTCTTCTAAGTCCTATCTTCTTTCAAGTCCCAGACCAAGTCCCACTTTCACATGAAATTCTCTGCCTACTCTAGCCTAGAGTGATCTTTAACTCCAGTAAGCACCTTAGCATTGCTGTTTGACCATTTATTCAAACAACAATTTTTGAGTGATCATTAGGCAGAAAGTACAGTCTCTGCCCTTCAGGGACTTACAATCCAATCAGGGAGGTGAGGTAATTCCTGTTACACCGGCTCAACTAGCACTTTGCCTCCACATCTGGTATGAGGCCCTGCCTAAGCAGACAGTACAATGGAAACAGGACAAATTGACTCCCTTCTTGGCTGATCACTGATCCCCAGAGACTCACCTTAAAATATTCACCCCCAAAGGCCCAATTGCCAAGCATTTCAAAGAAGGTATGATGGGAAAGGTCTCGACCCACATCTTCCAGGTCGTTATGGTGTCCTCCAGCTCTCACACATTTCTGGCTGTTGGCCACACGTCGGAAGCCTGCCATCTCGCTTCGTGGATCCACGGTGCCCAGAAAGATTGGCTTGAACTGGAAGCACATAGAGTGGGGAGGGGGAGAGGGATATCCAATTTCTCAGTAGAAGGGAAATGTGGGGAGTGAGGATAGGGATGGCTGTTCAGACCGAAGGCTGACTGTGCCCCTGAGAGTGCAGTGTAATCTTGGTCTATGAGGACAAACTGGGAGCCTCGGGACAGCCATCTCTGGTGTGTGGGGAGCAGAGAAGAGGTAAACAAATCATGAACCGGAGACCCTCTGCCTAGTAAAATAGGCAAGGTAAAAGAAGGAGGAATGTGTTGGGAGCTGGAAATGGGACGCTGAAAGGTGGCATCCTCCGTCTCAGCTTCTTCAACCACACCCAATAACTTCAGGGAACAAAACTGAGACTCATTTAGTAGGGAGCCCAGACGGCCTCTAAGGTTAACTTATGCCGCCCCTATTTTACAGATGAGGACAATGAAGTCTAGAAAAGATGAGTGGTTGATAAAAACCAAAACCTTAGAGAATAGTACTCAGCAAACAATAGGTGATCAATAAACATTTAATGAAAGCGTTATCTTTATTTAAATAACGAATAAATGAAATCAGACTTCTCCCTCGGGATTCCACTCCAGCCATTTCTGGACCTAATACTCAATCCCAATCCAGAAGTTCCCAGCTCAAGCCCTCCCCAAGCCCTCCCTATACTCTGAGCGCCGTACCCCCATCACTTTACCCAACCAAGCACCGCCCTCTTTCCCCAAAAGCTACGAACTCCGCCTCTCGCTTCTTTTGCCCAATCCTGCAGCGTCTTTCTCACCAGAAAACTCACGAACTCCGCTCCCTATCAGTATGGTTCGGCCCTCACCTGGTTCATGCCCGCATTGACAAAAAGCAAACTGGGGTCGCCGCGGGGCCGCACGGAAGCGGAGGGCACCAGCCGGTGGCCATGGCGGTCCCGAAAGAAGTTCAGAAAGGCGGCCCTCACGGCCGAGGCCTTGGCTGCAGGGGGCTCCGATGAGAGCGGCCGATGGCTGAGGCCCCGCCATGCGGGCGACCTTCGAATGGCCCGCCGCAGCCTCCGGGCTGCAGCTGCCACTGACGCTGCCATCGTAGCTCCGGGCAGTGACTTTACGTGGTCAAAGAGTGACGAGGGAAGGAAGCCAGGCGTTTCCTACAGCGGCCCCTGGCGGTAGGAGGACTCAGGGGGCGGCCTCTGCCGCCGGGGTGGAAGCGATCGATTGGGTCGCTGGCAGAGTCTAGCACAGCGCCCGGCACATAGTAGGCTCTTAATTCATTCGGCATTAAGCAAATATTCATTGAGAGCCTACTATGTGCTAGGCATTGTTTTGGGCTTTTAGGGTACAAAATTGACAAAATGCCCTGCCCACTGAAATCCGTATTCTAGCAGTAATTGCTGTTGTGCTTATTAGTTTTGCAAAGTTACAGATGGGGTTGCAATAAACAGGTGTGGATTCAACTTCGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTTTTGTGTGTGTTTTTCCAGGCTGAGGGAAGAAGGCAGAGAGTGACAGGGGAGTATCAGCATTCATTCAAGAGGTATTCAACAAATATTTATTGAAGACCTAGTATGTGCTAGGCACTGTTCTAGGCATTTGCCAGTTTCCTTGGACCTTGGCATCAGACACGGCCATTTTTGCCCGTGAAGCAGGAGTCTATAGGAGAACACAGAAGCCAAACAGCATCTGCTATATTATTAATTGCCTAACATTTGGTCTTCTCATTTGCCTGGGGATCAGAGAGAATCCAGGTCGTCAAGGCAGGAGGAAGCTGTTGGCTAATAGCTGCAGAGATTTCACTCTCTAAGCCTTCTAATGCCCTAAGGTTTTGTGTGTTTTCGTTTAGGATAAGAGATATACCTGTTCTACCTCTCCCTTCTGTCTTTCCATAGTAACAGCTGTGACCCTGAAGCCAACAGGCCCTTGTGGATGCAATCAGGGTGCTCATGGGGCTTCTCATGATGCCCTTGGCTTGGGAAATTAAACAGATTGGGAAGACAGAAGAGAATCTGCCAAAGCTAAAACTCAATAGAGGTTCCAGAGCTGAGGTCAGTGTAATAACCGAGAAGGCCTTAGCCATCAGGGTGGTCTCTTTTAGCCACGATTCTGTGTGTGTTAAGTTATTTGGGGTCTTTGTATACATAGTTTCTCTGCGGAATCTACATTGGACTTGAATTTCTATAGTGATAGTAAATTCTTAACTTTGTGTTCTGACAGCACCTATAACTCCTATTCCATGATCCCCTTTTTCTCCCTTTGCCCACATAGATTAAAGGTGTTGTTTTGAAAGTGTGTTTGGCCTGTTTTGGTTTTTCCAGTGTTTCTGGAACAGAAAGCTAAAGCCAGCTGGGGATTTCTGTGTGATTAATGACTTTTTTATTTTTTTGAGATGGGGTTTCACTCTTGTTGTGCTGGCGTGCAATAGCACAATCTCGGCTCTCTGCAACCTCTGTCTCCCGGGTTCAAGCAATTATCCTGCCTTAGCCTCCTGAGTAGCTGGGATTACAGGCATGCATCACCACGCCCGGCTAATTTTGTATTTTTAGTAGAGATGGGGTTTCTCCATGTTGGTCAGGCTGGTCTTGAACTCCCGACCTCAGCTGACCTGCCTACCTCAGCCTTCCGAAGTGCTGGGATTACAGGCATGCACCACTGCGCCCAGCTGAGATTGATGATCTTTAGACAAGACTGTGAAATTATTTCCCAAACTGAGATGGGAGTGTTTTGCCATACAAACCTGGCAGGGCCTCTACTCAGTACTGACATCAACTTTTTTTTTTTCAGATTTTGCCCAGAAAGTCATTGTGTTACATTAGAAACTCCAAACATGGATCTAGTGTGGAGCCATATAATTTTTTTAAAACAGCTTTATTGAAATATAATTTACATGCTATACAATTCGCCCATTTAAATAAAGTATACAGTTCAATGCCTTTTAGTATATTTACATAGAGTTGCCCATCC
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GTGGTCCAAAGGAAAGCACACGGCTAGCAGGCACCCTGGGGAGAAAAGCAGGTGAGTGGTGGGAGACAGACAGACCCAGAAGCTGGGACTCTCTCTGCCATGAGAGCCCCTCCCTCAAGTCACAGCTCAGCAAGAGGAGGAACAGGGCTGACCCCACAATATCCTGGAATGAAATGCTAAGACTCTGAGGATTGGTGCTGGTAGTCTCCACTTTCCAGTCCTCCTGACCTCCAGGAATGAACATAAGAAGGGGGCTGACTTACCCTAAGCTCAGCCAGATGTCCCTGGTCTCCAGGTCTGGGTCCAGCCCTGCCTTGGGGTCACCATCAAAGTAGGAGATCCAGAGCCTTTCCTCAGGGATCCCATAGACCTGAGTCAGCAGTTCCCAGGCCATGTTACAAGCCTCCTCCTGCAGCAGAAACCAGCATGGGGTGGGGGGGGAAGACGGGTGAGAGGGAGACCCCACTGAAGTAATCAAGCCACATGAGTTTAGCTCCCGACTTAAGACAAAAGCATTTCTGCTGCCATCTTGTTCCCAGAATAAGCCATGAACCATTACTGCCTCTGAGTGTTTTCCTGCCCAGAAAGCTTCCCCCTTCTTCTAAGTCCTATCTTCTTTCAAGTCCCAGACCAAGTCCCACTTTCACATGAAATTCTCTGCCTACTCTAGCCTAGAGTGATCTTTAACTCCAGTAAGCACCTTAGCATTGCTGTTTGACCATTTATTCAAACAACAATTTTTGAGTGATCATTAGGCAGAAAGTACAGTCTCTGCCCTTCAGGGACTTACAATCCAATCAGGGAGGTGAGGTAATTCCTGTTACACCGGCTCAACTAGCACTTTGCCTCCACATCTGGTATGAGGCCCTGCCTAAGCAGACAGTACAATGGAAACAGGACAAATTGACTCCCTTCTTGGCTGATCACTGATCCCCAGAGACTCACCTTAAAATATTCACCCCCAAAGGCCCAATTGCCAAGCATTTCAAAGAAGGTATGATGGGAAAGGTCTCGACCCACATCTTCCAGGTCGTTATGGTGTCCTCCAGCTCTCACACATTTCTGGCTGTTGGCCACACGTCGGAAGCCTGCCATCTCGCTTCGTGGATCCACGGTGCCCAGAAAGATTGGCTTGAACTGGAAGCACATAGAGTGGGGAGGGGGAGAGGGATATCCAATTTCTCAGTAGAAGGGAAATGTGGGGAGTGAGGATAGGGATGGCTGTTCAGACCGAAGGCTGACTGTGCCCCTGAGAGTGCAGTGTAATCTTGGTCTATGAGGACAAACTGGGAGCCTCGGGACAGCCATCTCTGGTGTGTGGGGAGCAGAGAAGAGGTAAACAAATCATGAACCGGAGACCCTCTGCCTAGTAAAATAGGCAAGGTAAAAGAAGGAGGAATGTGTTGGGAGCTGGAAATGGGACGCTGAAAGGTGGCATCCTCCGTCTCAGCTTCTTCAACCACACCCAATAACTTCAGGGAACAAAACTGAGACTCATTTAGTAGGGAGCCCAGACGGCCTCTAAGGTTAACTTATGCCGCCCCTATTTTACAGATGAGGACAATGAAGTCTAGAAAAGATGAGTGGTTGATAAAAACCAAAACCTTAGAGAATAGTACTCAGCAAACAATAGGTGATCAATAAACATTTAATGAAAGCGTTATCTTTATTTAAATAACGAATAAATGAAATCAGACTTCTCCCTCGGGATTCCACTCCAGCCATTTCTGGACCTAATACTCAATCCCAATCCAGAAGTTCCCAGCTCAAGCCCTCCCCAAGCCCTCCCTATACTCTGAGCGCCGTACCCCCATCACTTTACCCAACCAAGCACCGCCCTCTTTCCCCAAAAGCTACGAACTCCGCCTCTCGCTTCTTTTGCCCAATCCTGCAGCGTCTTTCTCACCAGAAAACTCACGAACTCCGCTCCCTATCAGTATGGTTCGGCCCTCACCTGGTTCATGCCCGCATTGACAAAAAGCAAACTGGGGTCGCCGCGGGGCCGCACGGAAGCGGAGGGCACCAGCCGGTGGCCATGGCGGTCCCGACAGAAGTTCAGAAAGGCGGCCCTCACGGCCGAGGCCTTGGCTGCAGGGGGCTCCGATGAGAGCGGCCGATGGCTGAGGCCCCGCCATGCGGGCGACCTTCGAATGGCCCGCCGCAGCCTCCGGGCTGCAGCTGCCACTGACGCTGCCATCGTAGCTCCGGGCAGTGACTTTACGTGGTCAAAGAGTGACGAGGGAAGGAAGCCAGGCGTTTCCTACAGCGGCCCCTGGCGGTAGGAGGACTCAGGGGGCGGCCTCTGCCGCCGGGGTGGAAGCGATCGATTGGGTCGCTGGCAGAGTCTAGCACAGCGCCCGGCACATAGTAGGCTCTTAATTCATTCGGCATTAAGCAAATATTCATTGAGAGCCTACTATGTGCTAGGCATTGTTTTGGGCTTTTAGGGTACAAAATTGACAAAATGCCCTGCCCACTGAAATCCGTATTCTAGCAGTAATTGCTGTTGTGCTTATTAGTTTTGCAAAGTTACAGATGGGGTTGCAATAAACAGGTGTGGATTCAACTTCGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTTTTGTGTGTGTTTTTCCAGGCTGAGGGAAGAAGGCAGAGAGTGACAGGGGAGTATCAGCATTCATTCAAGAGGTATTCAACAAATATTTATTGAAGACCTAGTATGTGCTAGGCACTGTTCTAGGCATTTGCCAGTTTCCTTGGACCTTGGCATCAGACACGGCCATTTTTGCCCGTGAAGCAGGAGTCTATAGGAGAACACAGAAGCCAAACAGCATCTGCTATATTATTAATTGCCTAACATTTGGTCTTCTCATTTGCCTGGGGATCAGAGAGAATCCAGGTCGTCAAGGCAGGAGGAAGCTGTTGGCTAATAGCTGCAGAGATTTCACTCTCTAAGCCTTCTAATGCCCTAAGGTTTTGTGTGTTTTCGTTTAGGATAAGAGATATACCTGTTCTACCTCTCCCTTCTGTCTTTCCATAGTAACAGCTGTGACCCTGAAGCCAACAGGCCCTTGTGGATGCAATCAGGGTGCTCATGGGGCTTCTCATGATGCCCTTGGCTTGGGAAATTAAACAGATTGGGAAGACAGAAGAGAATCTGCCAAAGCTAAAACTCAATAGAGGTTCCAGAGCTGAGGTCAGTGTAATAACCGAGAAGGCCTTAGCCATCAGGGTGGTCTCTTTTAGCCACGATTCTGTGTGTGTTAAGTTATTTGGGGTCTTTGTATACATAGTTTCTCTGCGGAATCTACATTGGACTTGAATTTCTATAGTGATAGTAAATTCTTAACTTTGTGTTCTGACAGCACCTATAACTCCTATTCCATGATCCCCTTTTTCTCCCTTTGCCCACATAGATTAAAGGTGTTGTTTTGAAAGTGTGTTTGGCCTGTTTTGGTTTTTCCAGTGTTTCTGGAACAGAAAGCTAAAGCCAGCTGGGGATTTCTGTGTGATTAATGACTTTTTTATTTTTTTGAGATGGGGTTTCACTCTTGTTGTGCTGGCGTGCAATAGCACAATCTCGGCTCTCTGCAACCTCTGTCTCCCGGGTTCAAGCAATTATCCTGCCTTAGCCTCCTGAGTAGCTGGGATTACAGGCATGCATCACCACGCCCGGCTAATTTTGTATTTTTAGTAGAGATGGGGTTTCTCCATGTTGGTCAGGCTGGTCTTGAACTCCCGACCTCAGCTGACCTGCCTACCTCAGCCTTCCGAAGTGCTGGGATTACAGGCATGCACCACTGCGCCCAGCTGAGATTGATGATCTTTAGACAAGACTGTGAAATTATTTCCCAAACTGAGATGGGAGTGTTTTGCCATACAAACCTGGCAGGGCCTCTACTCAGTACTGACATCAACTTTTTTTTTTTCAGATTTTGCCCAGAAAGTCATTGTGTTACATTAGAAACTCCAAACATGGATCTAGTGTGGAGCCATATAATTTTTTTAAAACAGCTTTATTGAAATATAATTTACATGCTATACAATTCGCCCATTTAAATAAAGTATACAGTTCAATGCCTTTTAGTATATTTACATAGAGTTGCCCATCC
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Task1_train_10394
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Here is a mutation in RUNX2, SUPT3H (RUNX family transcription factor 2| SPT3 homolog, SAGA and STAGA complex component) on Chromosome 6. Determine whether it’s benign or pathogenic. If the latter, what disease does it cause?
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Pathogenic; not provided
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AATTTTCTGTAAAGAAACTTATGAACATATTTGTACAGTTATTGTGATCTAATATGAACCAAAAGCAGATAATGAATAGCACTAGGAAGAACACAGGGATATTTTAGTTCTAACACCCTCCTGTCTCCCTAGCCCTTACCTCCCTGCACATTCCAAATAATCTTTTGTAATTCACTGTCTCCGCCCACCCCATTTACTTTATGCCACTCCTAGTTACTGTCACACTAGGAAGAAGTCTAACATGCAGATTTAGAGTGGCATGGATAAATGGCAAAAAAATGCCTAGAAAATTGGTCTGTTCGCCTTTATAATTTTGGTTGAAAAATACTCCATCGCTCCCAACTGATGAAAACAGGAAGCTCTATTCATAAATATAAAATTCACTGCCTATGATATATAATCATCCTAATAAGAAAATGAGTTCTATACATACTTGTCCAAAGGGGCAAAAAAGGAGATAGTTTCCCAAAGATGTTTCCAATTTTCTTCTGAATCAGAATTAGCAAATCGAGACGACTAACATACTCTGTCTGTGGGCATTATTCCTTACTACACACAGCATTTTGTAATTTATTTCAAAGCTTCCATTAGAAACAAAAAAATACATAGCTTCTGTTAACCCACTCTATTCTAAGCTCATAGAATCAAATACTGAACAATCTACATTATAACATAAGCATTTTACTTTATAGAAGATCTGCTATCAGAAACTCTATTAATGTCTAAACTACTTAAAGAACTATATAAACTGAATACACTTCAATGAAAGACAAAAAATATTACAATCATAAAGAAAACTAAGATTCATCCAATAAACTATATTACAATCCCTGTCATTCATTTTTTTAAGATCTTCAAACTAGGCATGAGATAATGGTATACATGAAACATTACATTTAATCTTTATTGTAAAGGCCGCCATCTAATAGATTGATAATAAACTAGACAGACGTGATTTAAAATTTGTAAAAGAATGCCCAGACTAACACTTTCATGACAGCCAATTATAGTCAAGCCTAGCAAGCAGTTTGCAACCAGACCTTAAGGTAAACTTTTTTTTTTTTTACAATGAGTTACAGATTCACAAGTTTAAGAAGACAAGAAAAAGGAAAACAGAAGGAATCCAGCCACCCAGCAAATATGAAGCAGACCCCAGAATGTGATACAGTCCAAAGATGTGAATTATTGTATATCATCACTGTTGTTCAGAATTTCACACAGACTCTTGAGCCAATTTTGTTCATTTTTCCACAGACACAATAATGAACTAAAAAGAGGAGGCAAAAAGGCAGAGGTTGAGCGGGGAGTAGAAAGGAAAGCCCTTAACTGCAGAGCTCTGCTCTACAAATGCTTAACCTTACAGGAGTTTGGGCTCCTTCAGCATTTGTATTCTATCCAAATCCTCATGAGTCACAAAAATTAAAAAGCTATATCCTTCTGGATGCCAGGAAAGGCCTTACCACAAGCCTTTTGTGAGAGAAAGAGAGAGAGAGAAAGAGCAAGGGGGAAAAGCCACAGTGGTAGGCAGTCCCACTTTACTTAAGAGTACTGTGAGGTCACAAACCACATGATTCTGCCTCTCCAGTAATAGTGCTTGCAAAAAAAAGGAGTTTTAAAGCTTTTGCTTTTTTGGATTGTGTGAATGCTTCATTCGCCTCACAAACAACCACAGAACCACAAGTGCGGTGCAAACTTTCTCCAGGAGGACAGCAAGAAGTCTCTGGTTTTTAAATGGTTAATCTCCGCAGGTCACTACCAGCCACCGAGACCAACAGAGTCAGTGAGTGCTCTCTAACCACAGTCTATGCAGTAATAGTAGGTCCTTCAAATATTTGCTCATTCTCTTTTTGTTTTGTTTCTTTGCTTTTCACATGTTACCAGCTACATAATTTCTTGACAGAAAAAAATAAATATAAAGTCTATGTACTCCAGGCATACTGTAAAACTAAAACAAGGTTTGGGTATGGTTTGTATTTTCAGTTTAAGGCTGCAAGCAGTATTTACAACAGAGGGTACAAGTTCTATCTGAAAAAAAAAGGAGGGACTATGGCATCAAACAGCCTCTTCAGCACAGTGACACCATGTCAGCAAAACTTCTTTTGGGGTAAGTGTTACCATTTTTAAAATCCTGTAAGATATGAACCTGTTAAACATAAAGGTATGATTCTTTGATAAACTGCTAGCTTTTCCAAATAGCATATTAAAGATCCTAATTATGCTATCTTGTTGCATTAAGAATTGAAAAATGAAATTTCTGTATATATTTGCATTTGGTATCTGTAATGTATCTAATTTTCAAAGTAATGACTTGAAATATACAAAATTAAATTATCTCACATTGATCAAAATGTTTTCTAGAGTTATAGAGGTGAGGATATGAAAACAGTAAAAGAAACAGTTTAATACTCTCATTAACCCTCACCAGAAGAAAAGTCAGATCCTAAATTAATCAAAGCATTATAAATTATTGACTCCGGCAGCTCCCAATATTTGAGCAAACTTCAAAAAGGAAGCAATTTTACAAAATAACAGACCACAGAATTATCTCAACATTATGGTCTACCATGTATAACACAGAAATAAACCTGTAGTACAGTTAACATTTTAACCAGCTCAACTAAAAGAAATCTACTTATAAATTCAAACTGTATCCTATCTAAATAAGTTTGTTTCTAAACAACTTTATATAAGTATACATTCAGCTGAAATAAAATTATGATAAGCACATCACAGCCATTTTTAAAAGATCTTTATAGTTGCCCAGGATATTAAAAAGTTCATGGAAGTATTTTAAAACTTACATGCAACTGCATTTTTCTATGTAATTTTAATTTTACATCTACACACTGTTATCCATAGACCTTGTTATAAACACACTGAAACACTGAAACGTCTAAGATTCTTTTAATCACATTCTTGGACCTACCAAAATGAATAACTGCTGTTTAGTCTCATGAAAAATAAAGCTCCATAAGGATACCCTGTATGATTTTTAAAAGCCACAACTATTAAACCATGCTGGACTTTAAAAGAAGTAGGCATAATCTTGTCCCTTAATATTTAATTTCAAGTTACTGTTGATACAGATATGTAAATGACTTTAACATTCATCAGCTGATGTGTTATTATAGCAAAATATCTAAACACACTTACAAGATTCTCTTTATGATCTCCAACATGTTCCAACTACAAGGCAAGTTTTCAAAAATTTTTCTTATATCCATTAAAATAAACCTTCTTGCTGTGTACATCTATATTAACTCTGCTTTTAACTTACAACTAATGACTGGAGTTTCCTTTACTCCTCCTACTTCACACATTTTAACTGGATACTACTAGAGGATCAGTCTCAGTTTAGGTCAAACAGAAATAATTAAACCTGAAGGGAGAAAAAATGGTTTCTCTTACAGGGTGAGGAAATGTACTTTGTATTTTACAAAAAAAAATGTAAAATTGCTTTAGTGACTCCCTCAATAGCTGTAAGTGGGCCCCCTCAGTTATAATATATACAATATAATAATCACAGATTAATTTAAAATTTTAATGATGGGTACCAAGTATTACTCTAAAAACTTCTATATTAAGGAAGCAGGACATAAACACAGCTAGACTACATTACAACACATAGCATAATTACAGCTTATACATCGAAAGTTTTGTTACTACTACCCAAGAGATAAAAGGAAAAAGAATAGTTAAAACTACTGTTACACAGAGGGATAACTTGAAACAGGGATAACAGAGATATCAGGGAGGGATAACAGAGGCAGTTAAGTTACTCTTTCACGTTATCACTCTGTTTAACTATTTATTTTAAACACATTTTAAAAACCAGATCAGGAACAACACAAGTTTCAAAAAATTCTTCAGTATTAGAAGTAAAGTTATCATGAAGAATATGTTAAAATTCTCACAAAGAATATATTAAACTGCTTCTTATTCTATCATAACAGGGATCTTATACTTCTGTAACATTCTTAATAACTATTCAAAATTTCCAAAACTTGACAGGATTCTAAGCAAGGCATGGTAGTGAACCTTTTTTTTTTCCAACATTACAACCAGTTCTTCCTCTTTTGAAAAGTGGGCTGCACCT
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AATTTTCTGTAAAGAAACTTATGAACATATTTGTACAGTTATTGTGATCTAATATGAACCAAAAGCAGATAATGAATAGCACTAGGAAGAACACAGGGATATTTTAGTTCTAACACCCTCCTGTCTCCCTAGCCCTTACCTCCCTGCACATTCCAAATAATCTTTTGTAATTCACTGTCTCCGCCCACCCCATTTACTTTATGCCACTCCTAGTTACTGTCACACTAGGAAGAAGTCTAACATGCAGATTTAGAGTGGCATGGATAAATGGCAAAAAAATGCCTAGAAAATTGGTCTGTTCGCCTTTATAATTTTGGTTGAAAAATACTCCATCGCTCCCAACTGATGAAAACAGGAAGCTCTATTCATAAATATAAAATTCACTGCCTATGATATATAATCATCCTAATAAGAAAATGAGTTCTATACATACTTGTCCAAAGGGGCAAAAAAGGAGATAGTTTCCCAAAGATGTTTCCAATTTTCTTCTGAATCAGAATTAGCAAATCGAGACGACTAACATACTCTGTCTGTGGGCATTATTCCTTACTACACACAGCATTTTGTAATTTATTTCAAAGCTTCCATTAGAAACAAAAAAATACATAGCTTCTGTTAACCCACTCTATTCTAAGCTCATAGAATCAAATACTGAACAATCTACATTATAACATAAGCATTTTACTTTATAGAAGATCTGCTATCAGAAACTCTATTAATGTCTAAACTACTTAAAGAACTATATAAACTGAATACACTTCAATGAAAGACAAAAAATATTACAATCATAAAGAAAACTAAGATTCATCCAATAAACTATATTACAATCCCTGTCATTCATTTTTTTAAGATCTTCAAACTAGGCATGAGATAATGGTATACATGAAACATTACATTTAATCTTTATTGTAAAGGCCGCCATCTAATAGATTGATAATAAACTAGACAGACGTGATTTAAAATTTGTAAAAGAATGCCCAGACTAACACTTTCATGACAGCCAATTATAGTCAAGCCTAGCAAGCAGTTTGCAACCAGACCTTAAGGTAAACTTTTTTTTTTTTTACAATGAGTTACAGATTCACAAGTTTAAGAAGACAAGAAAAAGGAAAACAGAAGGAATCCAGCCACCCAGCAAATATGAAGCAGACCCCAGAATGTGATACAGTCCAAAGATGTGAATTATTGTATATCATCACTGTTGTTCAGAATTTCACACAGACTCTTGAGCCAATTTTGTTCATTTTTCCACAGACACAATAATGAACTAAAAAGAGGAGGCAAAAAGGCAGAGGTTGAGCGGGGAGTAGAAAGGAAAGCCCTTAACTGCAGAGCTCTGCTCTACAAATGCTTAACCTTACAGGAGTTTGGGCTCCTTCAGCATTTGTATTCTATCCAAATCCTCATGAGTCACAAAAATTAAAAAGCTATATCCTTCTGGATGCCAGGAAAGGCCTTACCACAAGCCTTTTGTGAGAGAAAGAGAGAGAGAGAAAGAGCAAGGGGGAAAAGCCACAGTGGTAGGCAGTCCCACTTTACTTAAGAGTACTGTGAGGTCACAAACCACATGATTCTGCCTCTCCAGTAATAGTGCTTGCAAAAAAAAGGAGTTTTAAAGCTTTTGCTTTTTTGGATTGTGTGAATGCTTCATTCGCCTCACAAACAACCACAGAACCACAAGTGCGGTGCAAACTTTCTCCAGGAGGACAGCAAGAAGTCTCTGGTTTTTAAATGGTTAATCTCCGCAGGTCACTACCAGCCACCGAGACCAACAGAGTCAGTGAGTGCTCTCTAACCACAGTCTATGCAGTAATAGTAGGTCCTTCAAATATTTGCTCATTCTCTTTTTGTTTTGTTTCTTTGCTTTTCACATGTTACCAGCTACATAATTTCTTGACAGAAAAAAATAAATATAAAGTCTATGTACTCCAGGCATACTGTAAAACTAAAACAAGGTTTGGGTATGGTTTGTATTTTCAGTTTAAGGCTGCAAGCAGTATTTACAACAGAGGGTACAAGTTCTATCTGAAAAAAAAAGGAGGGACTATAGCATCAAACAGCCTCTTCAGCACAGTGACACCATGTCAGCAAAACTTCTTTTGGGGTAAGTGTTACCATTTTTAAAATCCTGTAAGATATGAACCTGTTAAACATAAAGGTATGATTCTTTGATAAACTGCTAGCTTTTCCAAATAGCATATTAAAGATCCTAATTATGCTATCTTGTTGCATTAAGAATTGAAAAATGAAATTTCTGTATATATTTGCATTTGGTATCTGTAATGTATCTAATTTTCAAAGTAATGACTTGAAATATACAAAATTAAATTATCTCACATTGATCAAAATGTTTTCTAGAGTTATAGAGGTGAGGATATGAAAACAGTAAAAGAAACAGTTTAATACTCTCATTAACCCTCACCAGAAGAAAAGTCAGATCCTAAATTAATCAAAGCATTATAAATTATTGACTCCGGCAGCTCCCAATATTTGAGCAAACTTCAAAAAGGAAGCAATTTTACAAAATAACAGACCACAGAATTATCTCAACATTATGGTCTACCATGTATAACACAGAAATAAACCTGTAGTACAGTTAACATTTTAACCAGCTCAACTAAAAGAAATCTACTTATAAATTCAAACTGTATCCTATCTAAATAAGTTTGTTTCTAAACAACTTTATATAAGTATACATTCAGCTGAAATAAAATTATGATAAGCACATCACAGCCATTTTTAAAAGATCTTTATAGTTGCCCAGGATATTAAAAAGTTCATGGAAGTATTTTAAAACTTACATGCAACTGCATTTTTCTATGTAATTTTAATTTTACATCTACACACTGTTATCCATAGACCTTGTTATAAACACACTGAAACACTGAAACGTCTAAGATTCTTTTAATCACATTCTTGGACCTACCAAAATGAATAACTGCTGTTTAGTCTCATGAAAAATAAAGCTCCATAAGGATACCCTGTATGATTTTTAAAAGCCACAACTATTAAACCATGCTGGACTTTAAAAGAAGTAGGCATAATCTTGTCCCTTAATATTTAATTTCAAGTTACTGTTGATACAGATATGTAAATGACTTTAACATTCATCAGCTGATGTGTTATTATAGCAAAATATCTAAACACACTTACAAGATTCTCTTTATGATCTCCAACATGTTCCAACTACAAGGCAAGTTTTCAAAAATTTTTCTTATATCCATTAAAATAAACCTTCTTGCTGTGTACATCTATATTAACTCTGCTTTTAACTTACAACTAATGACTGGAGTTTCCTTTACTCCTCCTACTTCACACATTTTAACTGGATACTACTAGAGGATCAGTCTCAGTTTAGGTCAAACAGAAATAATTAAACCTGAAGGGAGAAAAAATGGTTTCTCTTACAGGGTGAGGAAATGTACTTTGTATTTTACAAAAAAAAATGTAAAATTGCTTTAGTGACTCCCTCAATAGCTGTAAGTGGGCCCCCTCAGTTATAATATATACAATATAATAATCACAGATTAATTTAAAATTTTAATGATGGGTACCAAGTATTACTCTAAAAACTTCTATATTAAGGAAGCAGGACATAAACACAGCTAGACTACATTACAACACATAGCATAATTACAGCTTATACATCGAAAGTTTTGTTACTACTACCCAAGAGATAAAAGGAAAAAGAATAGTTAAAACTACTGTTACACAGAGGGATAACTTGAAACAGGGATAACAGAGATATCAGGGAGGGATAACAGAGGCAGTTAAGTTACTCTTTCACGTTATCACTCTGTTTAACTATTTATTTTAAACACATTTTAAAAACCAGATCAGGAACAACACAAGTTTCAAAAAATTCTTCAGTATTAGAAGTAAAGTTATCATGAAGAATATGTTAAAATTCTCACAAAGAATATATTAAACTGCTTCTTATTCTATCATAACAGGGATCTTATACTTCTGTAACATTCTTAATAACTATTCAAAATTTCCAAAACTTGACAGGATTCTAAGCAAGGCATGGTAGTGAACCTTTTTTTTTTCCAACATTACAACCAGTTCTTCCTCTTTTGAAAAGTGGGCTGCACCT
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Task1_train_10395
|
Gene RUNX2 (RUNX family transcription factor 2), found on Chromosome 6, is impacted by this variant. What is the biological outcome — benign or pathogenic?
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Pathogenic; Cleidocranial dysostosis
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CGTGCTCTGACTCTCATCAGCGTAATGATCGACTTAGCCAGAGTCGTGTCTATATAAACCACAAAAACCTAATCATTAGAAATCCCAGCCTCCAAAAACCACATTTTAGGTAAAAAGTGCCGCTTTTTTTCCGCGCTCCTTCATCCTCTCGACCACAACTTTTTGGGGGATCCAAAGTCGCTTTTTAAACCCACACTAGGAAATAAATACATAAATAAACAGCCACGGAAGCATTTTGAATTTTTTAGTTCGTATTTTTAATTTTTCCCCGTGAGCGCTGGGGAAGACAGACACGAAACTTAGTCTTAGATGTAGAATAGACTTAATAAAATATTTAAATTCATGGAAAACGGCTGGTGCTTTTCCCCAGCAAGGGTTTTGCAACTTATTTTAATCACAAAGCTGACAGTTTTTCAGTCCTTAAAACAAAAACAAACAAACAAACACCTCATTCTTGTTCTCTAGGAATGACAAGATTGAATATATAAGAAAAAAGAAATGTCCAGCTATGCACTTGAGTTCCTAAAAACTATTTTGACTAGATCTCCCTCCACCCCCCCTCCTCATTTTTTTTGTGTCACTTAAAACAAAAAACACCCAAACCCTGCAAAATCTTTTTCCCTTGGGAGTCGCTCAGACAGAGGTGGGGGTAGAGGTGGGAGGGTGAAGAGTGCTGAGAAGTCAGCACAGAGGCTCAAGAATTTTCTTTCCTCCTCTCCTGAAGTTACAACGAAAAATAGCGACAGTCAGATCAGCCGGGGGCTCTCTGGTGTCTCGGCTTCAATCTCTTCCTACAAAGAGGGGGTTCCTTGTCCTAGGGGTGGGGAGAGCAAGAGGACGCGACCTGGCGAGATTGCCCCTAGTCTGGGGCCGCCTCTAGGCTTCGGAAACTGCACACGGCGCGCGGGGGGCTCCTTCTCGCGGCCGGCTGGCGGCGGCAGCGGCTGCGATTCGCAGGCTCGAGATTCGTTGCCCCGAGATCCGCTGCCCACGACTTACCTCTTGGCACCTTGAAGCGCGAGAGACAGGGGAGCTTTGCAAATTGCAGGAGGGAGTGGATGCAAAGAGGTGGCTGTGAGAGGGCGAGAAGAAAAGAAGGGAAAGGAAGGAGCCTAGCCGGGGAGCCGGGCTGGCAGCCGCCGCGGGAGGAATCTGAGCGTGCAGCCCGCGCGGGGGGAGCGGCGGCCGCCGCGGAGGCGGCGGCGCGGGAGGGCGGAGGCGCGGCCGCCTGCAGCTGGGTAGCAGCGCGCGGCGCGGCGCGGCGGTGGCGGGCAGCGCGCGGCAATGCCGGCCCCGGGGCTGGACTGCTGAACCCACACCGCTTCACCACCGGACTCCAACTGGGAGGGGGCGCCAGCGCACCCAGGACGCGGTGCCCCAAGGGACCCCATTCCAAGCTGCAAACTCAAGTCCCCCGCCTCCCCAGGCCAAACACACCCCCGCGCCCGTTCGCAGCTGCCACCCCGGGTGTTCCAAAGACTCCGGCAAAGATCTGCGCCTCCCGGGTCTCCCTACCCGCCAGCCCGACTGCGCCGCATCGCCAGACTCTGTTGGCCCATCAGACTCCGCCCGGCAGTCGGCCTCATCAAACTTGATTTCTCACCTCCTCAGCCCCATCACCTCCATCCTCTTTCCCCCCGTCTCGCCTTCACCCCCCCAATTTCCTCCTTGCCCCTCATTTCCACCCTCCTCCCCCTCCCCCGGCCACTTCGCTAACTTGTGGCTGTTGTGATGCGTATTCCCGTAGATCCGAGCACCAGCCGGCGCTTCAGCCCCCCCTCCAGCAGCCTGCAGCCCGGCAAAATGAGCGACGTGAGCCCGGTGGTGGCTGCGCAACAGCAGCAGCAACAGCAGCAGCAGCAACAGCAGCAGCAGCAGCAGCAACAGCAGCAGCAGCAGCAGGAGGCGGCGGCGGCGGCTGCGGCGGCGGCGGCGGCTGCGGCGGCGGCAGCTGCAGTGCCCCGGTTGCGGCCGCCCCACGACAACCGCACCATGGTGGAGATCATCGCCGACCACCCGGCCGAACTCGTCCGCACCGACAGCCCCAACTTCCTGTGCTCGGTGCTGCCCTCGCACTGGCGCTGCAACAAGACCCTGCCCGTGGCCTTCAAGGTAAGAGGCTACACCGCCCCCCGCCCCCGGCCGGGAGCGGCGGAACCTGCCCGCCGGTGTCTTCCTGCCCACGGGGCTGGGCCCCGGACGTCCTCCAAGACCTCCTGCCTTGGCGGCTCTAACCCCAGAAACCCCCGGCCGGGCCTCCCTCCGGATGCCCTGGCGGGCTCGGGGCTCAGTCCCTCCGCGCAAATCCCTCCCTCTCCCACCTGTGCCCGCTGCCACCCCGACTTCAGCCCTAGTCCCCCTGACCCGTTCAGCACTCCTCATGCCTCCTGCCTGGCCTTGATTCTCACTCACTCCTTCGCGCCGTCTCCCTTTCCCCCAGGATCCCCAAAGTACCCACTCTTGCACTGCGAGCGGACTTGCTCCACCCCGCCCCTTTCCCGGGGGCGAGGATCCCCGGCATTGTCCCCTGGGGCTCCCGCGTCCTTCCGGGACATCCCGGCCTGGCCGCATTGCGGGCTGCCCGCGCAGCCTCTCTTTGGGGCTCCGCGCGCTCTCACCCGCTTCCCTCACAGCCAAACGCCTCTCCTCAGGTCTCGGCGTCCCCTTCCCCGACCCGCAGAGTTCAGCGGTCCTGGTCCCTCCCGGGCTCCCGTGCCGGGATTCGTGGGGTGCCGGTGCCGGGCATTAGTGCCCGGGGCTGGGCGTGGGGTGCTGACTGAGGCGCGCGGGCTGCGCTACCAGTGCCCGGGAGGGTCCTGGACAAACCTAGGGTCTCCAGAGGAGGGGGTGTCAGGGCGGGGGCGTTTGCTCTGTTCGCTGACCCGCGCCAGATCCCGTTACCGGGAGGAAGGCGGGGCCGCTGGGGCGTCCGCAAGCCCCGAAGCGGGGGCGTTCAGGGGGCCTGGGCGCTGAACCCTCGAGTGCTGGGAGGCGCGGGCCAGGGGACGGGGCGGGAGCTCGGGCCGCTTCTTCCAGCCGGGACCGAGCTCTGCGCCTCGCCCCGCCAGGGAGGGATGAGGGAAACCTGTGGAACAACTTTAGTTCGCCCAACTTGAAAACGGAGGTGAAATTTTGTATTTTTGCTTTATTATTATTTTTAAAGGACTTAAATCTAAAAAAGATCCCTCCTGCTTCTGAAAGGTGGTGAGAGGCTCCTGCTGGTGGCCTGAGCACGGAGTGAGCTCGAAGGCTTGAGAGCGGCCTCTGCGCGCCCCGCAGACTCTTGTGCCTGCCCGGCCCGTTAGTTTGAGGGCGGGTGGCAGCCGCGGGAGTCGCAGGCAGGTGCTCCGCAGGTTGAGGTTTTAGGATCTGGAGCCTCTCACAGTAGCCCGATGGCTCTCCATAACCCGATCCAGATTTCCCGGGGTAGCCCTCTACAGGGGGGAGACGCGGAGCCCCCAGGGCCCAGCGCACACTGGGTTGATGGGGAAACGGGTTCCCAGGCTGTCCACACTCGCAGGACTGTCCACACTCGCAAGACGCCAGGGATGCAGGGGTGGTAAGCCAGACGTGGAGATGAGACTCTCAGAAAGGTGCTTTGGGCCCTTGCTAACCTCTGAACTTGAGTAGGTGGGCCTGGGTCCCCTGGGTTCTGAGGTCTGTGGAGAGCAGGGCAAGCAAGGCCTTGGGGGAGGTTAAAAAAAAAAGTTGGGGGAGGAATCATGCCAGTTTCTCCGCTGGGGACCCTGGGGCCAAACTCCCACGGGCCACTGACAGTTCCCAGTTGTTGATCACCCCCACCCCACGCACCAATTCAGATTCCGTGTGTGGGTGGGATGGAAAGAAAGAGGAGTCCAGGTCAATTAGACCTGGTTATCTCGCTAGGACTTATATCAGAACAGAAATCAGAATGAATTGTTATGGAAAGGGGATGTTGCATTCTGGGGCAAGTTTCATTTTGCAGTTGGCTCAAGAAATTTTTTTTTTTAACCGTCACATTTCTCCTTTTATAAACCACCCATTTTGTAGGTTAATGTTTGCTTCCTTGAAATAGGAAAAGCTCAGAATACATGTGAATTGTATAAATTTAAATTTC
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CGTGCTCTGACTCTCATCAGCGTAATGATCGACTTAGCCAGAGTCGTGTCTATATAAACCACAAAAACCTAATCATTAGAAATCCCAGCCTCCAAAAACCACATTTTAGGTAAAAAGTGCCGCTTTTTTTCCGCGCTCCTTCATCCTCTCGACCACAACTTTTTGGGGGATCCAAAGTCGCTTTTTAAACCCACACTAGGAAATAAATACATAAATAAACAGCCACGGAAGCATTTTGAATTTTTTAGTTCGTATTTTTAATTTTTCCCCGTGAGCGCTGGGGAAGACAGACACGAAACTTAGTCTTAGATGTAGAATAGACTTAATAAAATATTTAAATTCATGGAAAACGGCTGGTGCTTTTCCCCAGCAAGGGTTTTGCAACTTATTTTAATCACAAAGCTGACAGTTTTTCAGTCCTTAAAACAAAAACAAACAAACAAACACCTCATTCTTGTTCTCTAGGAATGACAAGATTGAATATATAAGAAAAAAGAAATGTCCAGCTATGCACTTGAGTTCCTAAAAACTATTTTGACTAGATCTCCCTCCACCCCCCCTCCTCATTTTTTTTGTGTCACTTAAAACAAAAAACACCCAAACCCTGCAAAATCTTTTTCCCTTGGGAGTCGCTCAGACAGAGGTGGGGGTAGAGGTGGGAGGGTGAAGAGTGCTGAGAAGTCAGCACAGAGGCTCAAGAATTTTCTTTCCTCCTCTCCTGAAGTTACAACGAAAAATAGCGACAGTCAGATCAGCCGGGGGCTCTCTGGTGTCTCGGCTTCAATCTCTTCCTACAAAGAGGGGGTTCCTTGTCCTAGGGGTGGGGAGAGCAAGAGGACGCGACCTGGCGAGATTGCCCCTAGTCTGGGGCCGCCTCTAGGCTTCGGAAACTGCACACGGCGCGCGGGGGGCTCCTTCTCGCGGCCGGCTGGCGGCGGCAGCGGCTGCGATTCGCAGGCTCGAGATTCGTTGCCCCGAGATCCGCTGCCCACGACTTACCTCTTGGCACCTTGAAGCGCGAGAGACAGGGGAGCTTTGCAAATTGCAGGAGGGAGTGGATGCAAAGAGGTGGCTGTGAGAGGGCGAGAAGAAAAGAAGGGAAAGGAAGGAGCCTAGCCGGGGAGCCGGGCTGGCAGCCGCCGCGGGAGGAATCTGAGCGTGCAGCCCGCGCGGGGGGAGCGGCGGCCGCCGCGGAGGCGGCGGCGCGGGAGGGCGGAGGCGCGGCCGCCTGCAGCTGGGTAGCAGCGCGCGGCGCGGCGCGGCGGTGGCGGGCAGCGCGCGGCAATGCCGGCCCCGGGGCTGGACTGCTGAACCCACACCGCTTCACCACCGGACTCCAACTGGGAGGGGGCGCCAGCGCACCCAGGACGCGGTGCCCCAAGGGACCCCATTCCAAGCTGCAAACTCAAGTCCCCCGCCTCCCCAGGCCAAACACACCCCCGCGCCCGTTCGCAGCTGCCACCCCGGGTGTTCCAAAGACTCCGGCAAAGATCTGCGCCTCCCGGGTCTCCCTACCCGCCAGCCCGACTGCGCCGCATCGCCAGACTCTGTTGGCCCATCAGACTCCGCCCGGCAGTCGGCCTCATCAAACTTGATTTCTCACCTCCTCAGCCCCATCACCTCCATCCTCTTTCCCCCCGTCTCGCCTTCACCCCCCCAATTTCCTCCTTGCCCCTCATTTCCACCCTCCTCCCCCTCCCCCGGCCACTTCGCTAACTTGTGGCTGTTGTGATGCGTATTCCCGTAGATCCGAGCACCAGCCGGCGCTTCAGCCCCCCCTCCAGCAGCCTGCAGCCCGGCAAAATGAGCGACGTGAGCCCGGTGGTGGCTGCGCAACAGCAGCAGCAACAGCAGCAGCAGCAACAGCAGCAGCAGCAGCAGCAACAGCAGCAGCAGCAGCAGGAGGCGGCGGCGGCGGCTGCGGCGGCGGCGGCGGCTGCGGCGGCGGCAGCTGCAGTGCCCCGGTTGCGGCCGCCCCACGACAACCGCACCATGGTGGAGATCATCGCCGACCACCCGGCCGAACTCGTCCGCACCGACAGCCCCAAATTCCTGTGCTCGGTGCTGCCCTCGCACTGGCGCTGCAACAAGACCCTGCCCGTGGCCTTCAAGGTAAGAGGCTACACCGCCCCCCGCCCCCGGCCGGGAGCGGCGGAACCTGCCCGCCGGTGTCTTCCTGCCCACGGGGCTGGGCCCCGGACGTCCTCCAAGACCTCCTGCCTTGGCGGCTCTAACCCCAGAAACCCCCGGCCGGGCCTCCCTCCGGATGCCCTGGCGGGCTCGGGGCTCAGTCCCTCCGCGCAAATCCCTCCCTCTCCCACCTGTGCCCGCTGCCACCCCGACTTCAGCCCTAGTCCCCCTGACCCGTTCAGCACTCCTCATGCCTCCTGCCTGGCCTTGATTCTCACTCACTCCTTCGCGCCGTCTCCCTTTCCCCCAGGATCCCCAAAGTACCCACTCTTGCACTGCGAGCGGACTTGCTCCACCCCGCCCCTTTCCCGGGGGCGAGGATCCCCGGCATTGTCCCCTGGGGCTCCCGCGTCCTTCCGGGACATCCCGGCCTGGCCGCATTGCGGGCTGCCCGCGCAGCCTCTCTTTGGGGCTCCGCGCGCTCTCACCCGCTTCCCTCACAGCCAAACGCCTCTCCTCAGGTCTCGGCGTCCCCTTCCCCGACCCGCAGAGTTCAGCGGTCCTGGTCCCTCCCGGGCTCCCGTGCCGGGATTCGTGGGGTGCCGGTGCCGGGCATTAGTGCCCGGGGCTGGGCGTGGGGTGCTGACTGAGGCGCGCGGGCTGCGCTACCAGTGCCCGGGAGGGTCCTGGACAAACCTAGGGTCTCCAGAGGAGGGGGTGTCAGGGCGGGGGCGTTTGCTCTGTTCGCTGACCCGCGCCAGATCCCGTTACCGGGAGGAAGGCGGGGCCGCTGGGGCGTCCGCAAGCCCCGAAGCGGGGGCGTTCAGGGGGCCTGGGCGCTGAACCCTCGAGTGCTGGGAGGCGCGGGCCAGGGGACGGGGCGGGAGCTCGGGCCGCTTCTTCCAGCCGGGACCGAGCTCTGCGCCTCGCCCCGCCAGGGAGGGATGAGGGAAACCTGTGGAACAACTTTAGTTCGCCCAACTTGAAAACGGAGGTGAAATTTTGTATTTTTGCTTTATTATTATTTTTAAAGGACTTAAATCTAAAAAAGATCCCTCCTGCTTCTGAAAGGTGGTGAGAGGCTCCTGCTGGTGGCCTGAGCACGGAGTGAGCTCGAAGGCTTGAGAGCGGCCTCTGCGCGCCCCGCAGACTCTTGTGCCTGCCCGGCCCGTTAGTTTGAGGGCGGGTGGCAGCCGCGGGAGTCGCAGGCAGGTGCTCCGCAGGTTGAGGTTTTAGGATCTGGAGCCTCTCACAGTAGCCCGATGGCTCTCCATAACCCGATCCAGATTTCCCGGGGTAGCCCTCTACAGGGGGGAGACGCGGAGCCCCCAGGGCCCAGCGCACACTGGGTTGATGGGGAAACGGGTTCCCAGGCTGTCCACACTCGCAGGACTGTCCACACTCGCAAGACGCCAGGGATGCAGGGGTGGTAAGCCAGACGTGGAGATGAGACTCTCAGAAAGGTGCTTTGGGCCCTTGCTAACCTCTGAACTTGAGTAGGTGGGCCTGGGTCCCCTGGGTTCTGAGGTCTGTGGAGAGCAGGGCAAGCAAGGCCTTGGGGGAGGTTAAAAAAAAAAGTTGGGGGAGGAATCATGCCAGTTTCTCCGCTGGGGACCCTGGGGCCAAACTCCCACGGGCCACTGACAGTTCCCAGTTGTTGATCACCCCCACCCCACGCACCAATTCAGATTCCGTGTGTGGGTGGGATGGAAAGAAAGAGGAGTCCAGGTCAATTAGACCTGGTTATCTCGCTAGGACTTATATCAGAACAGAAATCAGAATGAATTGTTATGGAAAGGGGATGTTGCATTCTGGGGCAAGTTTCATTTTGCAGTTGGCTCAAGAAATTTTTTTTTTTAACCGTCACATTTCTCCTTTTATAAACCACCCATTTTGTAGGTTAATGTTTGCTTCCTTGAAATAGGAAAAGCTCAGAATACATGTGAATTGTATAAATTTAAATTTC
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Task1_train_10396
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This alteration occurs within gene RUNX2 (RUNX family transcription factor 2) located on Chromosome 6. Is it associated with a disease or is it a benign variant?
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Pathogenic; not provided
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GTCTATATAAACCACAAAAACCTAATCATTAGAAATCCCAGCCTCCAAAAACCACATTTTAGGTAAAAAGTGCCGCTTTTTTTCCGCGCTCCTTCATCCTCTCGACCACAACTTTTTGGGGGATCCAAAGTCGCTTTTTAAACCCACACTAGGAAATAAATACATAAATAAACAGCCACGGAAGCATTTTGAATTTTTTAGTTCGTATTTTTAATTTTTCCCCGTGAGCGCTGGGGAAGACAGACACGAAACTTAGTCTTAGATGTAGAATAGACTTAATAAAATATTTAAATTCATGGAAAACGGCTGGTGCTTTTCCCCAGCAAGGGTTTTGCAACTTATTTTAATCACAAAGCTGACAGTTTTTCAGTCCTTAAAACAAAAACAAACAAACAAACACCTCATTCTTGTTCTCTAGGAATGACAAGATTGAATATATAAGAAAAAAGAAATGTCCAGCTATGCACTTGAGTTCCTAAAAACTATTTTGACTAGATCTCCCTCCACCCCCCCTCCTCATTTTTTTTGTGTCACTTAAAACAAAAAACACCCAAACCCTGCAAAATCTTTTTCCCTTGGGAGTCGCTCAGACAGAGGTGGGGGTAGAGGTGGGAGGGTGAAGAGTGCTGAGAAGTCAGCACAGAGGCTCAAGAATTTTCTTTCCTCCTCTCCTGAAGTTACAACGAAAAATAGCGACAGTCAGATCAGCCGGGGGCTCTCTGGTGTCTCGGCTTCAATCTCTTCCTACAAAGAGGGGGTTCCTTGTCCTAGGGGTGGGGAGAGCAAGAGGACGCGACCTGGCGAGATTGCCCCTAGTCTGGGGCCGCCTCTAGGCTTCGGAAACTGCACACGGCGCGCGGGGGGCTCCTTCTCGCGGCCGGCTGGCGGCGGCAGCGGCTGCGATTCGCAGGCTCGAGATTCGTTGCCCCGAGATCCGCTGCCCACGACTTACCTCTTGGCACCTTGAAGCGCGAGAGACAGGGGAGCTTTGCAAATTGCAGGAGGGAGTGGATGCAAAGAGGTGGCTGTGAGAGGGCGAGAAGAAAAGAAGGGAAAGGAAGGAGCCTAGCCGGGGAGCCGGGCTGGCAGCCGCCGCGGGAGGAATCTGAGCGTGCAGCCCGCGCGGGGGGAGCGGCGGCCGCCGCGGAGGCGGCGGCGCGGGAGGGCGGAGGCGCGGCCGCCTGCAGCTGGGTAGCAGCGCGCGGCGCGGCGCGGCGGTGGCGGGCAGCGCGCGGCAATGCCGGCCCCGGGGCTGGACTGCTGAACCCACACCGCTTCACCACCGGACTCCAACTGGGAGGGGGCGCCAGCGCACCCAGGACGCGGTGCCCCAAGGGACCCCATTCCAAGCTGCAAACTCAAGTCCCCCGCCTCCCCAGGCCAAACACACCCCCGCGCCCGTTCGCAGCTGCCACCCCGGGTGTTCCAAAGACTCCGGCAAAGATCTGCGCCTCCCGGGTCTCCCTACCCGCCAGCCCGACTGCGCCGCATCGCCAGACTCTGTTGGCCCATCAGACTCCGCCCGGCAGTCGGCCTCATCAAACTTGATTTCTCACCTCCTCAGCCCCATCACCTCCATCCTCTTTCCCCCCGTCTCGCCTTCACCCCCCCAATTTCCTCCTTGCCCCTCATTTCCACCCTCCTCCCCCTCCCCCGGCCACTTCGCTAACTTGTGGCTGTTGTGATGCGTATTCCCGTAGATCCGAGCACCAGCCGGCGCTTCAGCCCCCCCTCCAGCAGCCTGCAGCCCGGCAAAATGAGCGACGTGAGCCCGGTGGTGGCTGCGCAACAGCAGCAGCAACAGCAGCAGCAGCAACAGCAGCAGCAGCAGCAGCAACAGCAGCAGCAGCAGCAGGAGGCGGCGGCGGCGGCTGCGGCGGCGGCGGCGGCTGCGGCGGCGGCAGCTGCAGTGCCCCGGTTGCGGCCGCCCCACGACAACCGCACCATGGTGGAGATCATCGCCGACCACCCGGCCGAACTCGTCCGCACCGACAGCCCCAACTTCCTGTGCTCGGTGCTGCCCTCGCACTGGCGCTGCAACAAGACCCTGCCCGTGGCCTTCAAGGTAAGAGGCTACACCGCCCCCCGCCCCCGGCCGGGAGCGGCGGAACCTGCCCGCCGGTGTCTTCCTGCCCACGGGGCTGGGCCCCGGACGTCCTCCAAGACCTCCTGCCTTGGCGGCTCTAACCCCAGAAACCCCCGGCCGGGCCTCCCTCCGGATGCCCTGGCGGGCTCGGGGCTCAGTCCCTCCGCGCAAATCCCTCCCTCTCCCACCTGTGCCCGCTGCCACCCCGACTTCAGCCCTAGTCCCCCTGACCCGTTCAGCACTCCTCATGCCTCCTGCCTGGCCTTGATTCTCACTCACTCCTTCGCGCCGTCTCCCTTTCCCCCAGGATCCCCAAAGTACCCACTCTTGCACTGCGAGCGGACTTGCTCCACCCCGCCCCTTTCCCGGGGGCGAGGATCCCCGGCATTGTCCCCTGGGGCTCCCGCGTCCTTCCGGGACATCCCGGCCTGGCCGCATTGCGGGCTGCCCGCGCAGCCTCTCTTTGGGGCTCCGCGCGCTCTCACCCGCTTCCCTCACAGCCAAACGCCTCTCCTCAGGTCTCGGCGTCCCCTTCCCCGACCCGCAGAGTTCAGCGGTCCTGGTCCCTCCCGGGCTCCCGTGCCGGGATTCGTGGGGTGCCGGTGCCGGGCATTAGTGCCCGGGGCTGGGCGTGGGGTGCTGACTGAGGCGCGCGGGCTGCGCTACCAGTGCCCGGGAGGGTCCTGGACAAACCTAGGGTCTCCAGAGGAGGGGGTGTCAGGGCGGGGGCGTTTGCTCTGTTCGCTGACCCGCGCCAGATCCCGTTACCGGGAGGAAGGCGGGGCCGCTGGGGCGTCCGCAAGCCCCGAAGCGGGGGCGTTCAGGGGGCCTGGGCGCTGAACCCTCGAGTGCTGGGAGGCGCGGGCCAGGGGACGGGGCGGGAGCTCGGGCCGCTTCTTCCAGCCGGGACCGAGCTCTGCGCCTCGCCCCGCCAGGGAGGGATGAGGGAAACCTGTGGAACAACTTTAGTTCGCCCAACTTGAAAACGGAGGTGAAATTTTGTATTTTTGCTTTATTATTATTTTTAAAGGACTTAAATCTAAAAAAGATCCCTCCTGCTTCTGAAAGGTGGTGAGAGGCTCCTGCTGGTGGCCTGAGCACGGAGTGAGCTCGAAGGCTTGAGAGCGGCCTCTGCGCGCCCCGCAGACTCTTGTGCCTGCCCGGCCCGTTAGTTTGAGGGCGGGTGGCAGCCGCGGGAGTCGCAGGCAGGTGCTCCGCAGGTTGAGGTTTTAGGATCTGGAGCCTCTCACAGTAGCCCGATGGCTCTCCATAACCCGATCCAGATTTCCCGGGGTAGCCCTCTACAGGGGGGAGACGCGGAGCCCCCAGGGCCCAGCGCACACTGGGTTGATGGGGAAACGGGTTCCCAGGCTGTCCACACTCGCAGGACTGTCCACACTCGCAAGACGCCAGGGATGCAGGGGTGGTAAGCCAGACGTGGAGATGAGACTCTCAGAAAGGTGCTTTGGGCCCTTGCTAACCTCTGAACTTGAGTAGGTGGGCCTGGGTCCCCTGGGTTCTGAGGTCTGTGGAGAGCAGGGCAAGCAAGGCCTTGGGGGAGGTTAAAAAAAAAAGTTGGGGGAGGAATCATGCCAGTTTCTCCGCTGGGGACCCTGGGGCCAAACTCCCACGGGCCACTGACAGTTCCCAGTTGTTGATCACCCCCACCCCACGCACCAATTCAGATTCCGTGTGTGGGTGGGATGGAAAGAAAGAGGAGTCCAGGTCAATTAGACCTGGTTATCTCGCTAGGACTTATATCAGAACAGAAATCAGAATGAATTGTTATGGAAAGGGGATGTTGCATTCTGGGGCAAGTTTCATTTTGCAGTTGGCTCAAGAAATTTTTTTTTTTAACCGTCACATTTCTCCTTTTATAAACCACCCATTTTGTAGGTTAATGTTTGCTTCCTTGAAATAGGAAAAGCTCAGAATACATGTGAATTGTATAAATTTAAATTTCCATACAATATATATCTTTTACAATGTCCATCGTCCAAGGGCCCAGAA
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GTCTATATAAACCACAAAAACCTAATCATTAGAAATCCCAGCCTCCAAAAACCACATTTTAGGTAAAAAGTGCCGCTTTTTTTCCGCGCTCCTTCATCCTCTCGACCACAACTTTTTGGGGGATCCAAAGTCGCTTTTTAAACCCACACTAGGAAATAAATACATAAATAAACAGCCACGGAAGCATTTTGAATTTTTTAGTTCGTATTTTTAATTTTTCCCCGTGAGCGCTGGGGAAGACAGACACGAAACTTAGTCTTAGATGTAGAATAGACTTAATAAAATATTTAAATTCATGGAAAACGGCTGGTGCTTTTCCCCAGCAAGGGTTTTGCAACTTATTTTAATCACAAAGCTGACAGTTTTTCAGTCCTTAAAACAAAAACAAACAAACAAACACCTCATTCTTGTTCTCTAGGAATGACAAGATTGAATATATAAGAAAAAAGAAATGTCCAGCTATGCACTTGAGTTCCTAAAAACTATTTTGACTAGATCTCCCTCCACCCCCCCTCCTCATTTTTTTTGTGTCACTTAAAACAAAAAACACCCAAACCCTGCAAAATCTTTTTCCCTTGGGAGTCGCTCAGACAGAGGTGGGGGTAGAGGTGGGAGGGTGAAGAGTGCTGAGAAGTCAGCACAGAGGCTCAAGAATTTTCTTTCCTCCTCTCCTGAAGTTACAACGAAAAATAGCGACAGTCAGATCAGCCGGGGGCTCTCTGGTGTCTCGGCTTCAATCTCTTCCTACAAAGAGGGGGTTCCTTGTCCTAGGGGTGGGGAGAGCAAGAGGACGCGACCTGGCGAGATTGCCCCTAGTCTGGGGCCGCCTCTAGGCTTCGGAAACTGCACACGGCGCGCGGGGGGCTCCTTCTCGCGGCCGGCTGGCGGCGGCAGCGGCTGCGATTCGCAGGCTCGAGATTCGTTGCCCCGAGATCCGCTGCCCACGACTTACCTCTTGGCACCTTGAAGCGCGAGAGACAGGGGAGCTTTGCAAATTGCAGGAGGGAGTGGATGCAAAGAGGTGGCTGTGAGAGGGCGAGAAGAAAAGAAGGGAAAGGAAGGAGCCTAGCCGGGGAGCCGGGCTGGCAGCCGCCGCGGGAGGAATCTGAGCGTGCAGCCCGCGCGGGGGGAGCGGCGGCCGCCGCGGAGGCGGCGGCGCGGGAGGGCGGAGGCGCGGCCGCCTGCAGCTGGGTAGCAGCGCGCGGCGCGGCGCGGCGGTGGCGGGCAGCGCGCGGCAATGCCGGCCCCGGGGCTGGACTGCTGAACCCACACCGCTTCACCACCGGACTCCAACTGGGAGGGGGCGCCAGCGCACCCAGGACGCGGTGCCCCAAGGGACCCCATTCCAAGCTGCAAACTCAAGTCCCCCGCCTCCCCAGGCCAAACACACCCCCGCGCCCGTTCGCAGCTGCCACCCCGGGTGTTCCAAAGACTCCGGCAAAGATCTGCGCCTCCCGGGTCTCCCTACCCGCCAGCCCGACTGCGCCGCATCGCCAGACTCTGTTGGCCCATCAGACTCCGCCCGGCAGTCGGCCTCATCAAACTTGATTTCTCACCTCCTCAGCCCCATCACCTCCATCCTCTTTCCCCCCGTCTCGCCTTCACCCCCCCAATTTCCTCCTTGCCCCTCATTTCCACCCTCCTCCCCCTCCCCCGGCCACTTCGCTAACTTGTGGCTGTTGTGATGCGTATTCCCGTAGATCCGAGCACCAGCCGGCGCTTCAGCCCCCCCTCCAGCAGCCTGCAGCCCGGCAAAATGAGCGACGTGAGCCCGGTGGTGGCTGCGCAACAGCAGCAGCAACAGCAGCAGCAGCAACAGCAGCAGCAGCAGCAGCAACAGCAGCAGCAGCAGCAGGAGGCGGCGGCGGCGGCTGCGGCGGCGGCGGCGGCTGCGGCGGCGGCAGCTGCAGTGCCCCGGTTGCGGCCGCCCCACGACAACCGCACCATGGTGGAGATCATCGCCGACCACCCGGCCGAACTCGTCCGCACCGACAGCCCCAACTTCCTGTGCTCGGTGCTGCCCTCGCACTGGCGCTGCAACAAGACCCCGCCCGTGGCCTTCAAGGTAAGAGGCTACACCGCCCCCCGCCCCCGGCCGGGAGCGGCGGAACCTGCCCGCCGGTGTCTTCCTGCCCACGGGGCTGGGCCCCGGACGTCCTCCAAGACCTCCTGCCTTGGCGGCTCTAACCCCAGAAACCCCCGGCCGGGCCTCCCTCCGGATGCCCTGGCGGGCTCGGGGCTCAGTCCCTCCGCGCAAATCCCTCCCTCTCCCACCTGTGCCCGCTGCCACCCCGACTTCAGCCCTAGTCCCCCTGACCCGTTCAGCACTCCTCATGCCTCCTGCCTGGCCTTGATTCTCACTCACTCCTTCGCGCCGTCTCCCTTTCCCCCAGGATCCCCAAAGTACCCACTCTTGCACTGCGAGCGGACTTGCTCCACCCCGCCCCTTTCCCGGGGGCGAGGATCCCCGGCATTGTCCCCTGGGGCTCCCGCGTCCTTCCGGGACATCCCGGCCTGGCCGCATTGCGGGCTGCCCGCGCAGCCTCTCTTTGGGGCTCCGCGCGCTCTCACCCGCTTCCCTCACAGCCAAACGCCTCTCCTCAGGTCTCGGCGTCCCCTTCCCCGACCCGCAGAGTTCAGCGGTCCTGGTCCCTCCCGGGCTCCCGTGCCGGGATTCGTGGGGTGCCGGTGCCGGGCATTAGTGCCCGGGGCTGGGCGTGGGGTGCTGACTGAGGCGCGCGGGCTGCGCTACCAGTGCCCGGGAGGGTCCTGGACAAACCTAGGGTCTCCAGAGGAGGGGGTGTCAGGGCGGGGGCGTTTGCTCTGTTCGCTGACCCGCGCCAGATCCCGTTACCGGGAGGAAGGCGGGGCCGCTGGGGCGTCCGCAAGCCCCGAAGCGGGGGCGTTCAGGGGGCCTGGGCGCTGAACCCTCGAGTGCTGGGAGGCGCGGGCCAGGGGACGGGGCGGGAGCTCGGGCCGCTTCTTCCAGCCGGGACCGAGCTCTGCGCCTCGCCCCGCCAGGGAGGGATGAGGGAAACCTGTGGAACAACTTTAGTTCGCCCAACTTGAAAACGGAGGTGAAATTTTGTATTTTTGCTTTATTATTATTTTTAAAGGACTTAAATCTAAAAAAGATCCCTCCTGCTTCTGAAAGGTGGTGAGAGGCTCCTGCTGGTGGCCTGAGCACGGAGTGAGCTCGAAGGCTTGAGAGCGGCCTCTGCGCGCCCCGCAGACTCTTGTGCCTGCCCGGCCCGTTAGTTTGAGGGCGGGTGGCAGCCGCGGGAGTCGCAGGCAGGTGCTCCGCAGGTTGAGGTTTTAGGATCTGGAGCCTCTCACAGTAGCCCGATGGCTCTCCATAACCCGATCCAGATTTCCCGGGGTAGCCCTCTACAGGGGGGAGACGCGGAGCCCCCAGGGCCCAGCGCACACTGGGTTGATGGGGAAACGGGTTCCCAGGCTGTCCACACTCGCAGGACTGTCCACACTCGCAAGACGCCAGGGATGCAGGGGTGGTAAGCCAGACGTGGAGATGAGACTCTCAGAAAGGTGCTTTGGGCCCTTGCTAACCTCTGAACTTGAGTAGGTGGGCCTGGGTCCCCTGGGTTCTGAGGTCTGTGGAGAGCAGGGCAAGCAAGGCCTTGGGGGAGGTTAAAAAAAAAAGTTGGGGGAGGAATCATGCCAGTTTCTCCGCTGGGGACCCTGGGGCCAAACTCCCACGGGCCACTGACAGTTCCCAGTTGTTGATCACCCCCACCCCACGCACCAATTCAGATTCCGTGTGTGGGTGGGATGGAAAGAAAGAGGAGTCCAGGTCAATTAGACCTGGTTATCTCGCTAGGACTTATATCAGAACAGAAATCAGAATGAATTGTTATGGAAAGGGGATGTTGCATTCTGGGGCAAGTTTCATTTTGCAGTTGGCTCAAGAAATTTTTTTTTTTAACCGTCACATTTCTCCTTTTATAAACCACCCATTTTGTAGGTTAATGTTTGCTTCCTTGAAATAGGAAAAGCTCAGAATACATGTGAATTGTATAAATTTAAATTTCCATACAATATATATCTTTTACAATGTCCATCGTCCAAGGGCCCAGAA
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Task1_train_10397
|
A variant found in Chromosome 6 affects RUNX2 (RUNX family transcription factor 2). Please analyze its biological impact: is it benign or pathogenic, and what condition might it cause?
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Pathogenic; Cleidocranial dysostosis
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GCGGATCACCTGAGGTCAGGGGTTCAAGACCAGCCTGGCCAACATGGTGAAACCCCTTCTCTACTAAAAATACAAAAATTAGCCAGGTGTGGTGGTGCACACCTGTAATCCCAGCTACTCGGGAGGCTGAGGCAGGAGAGTCACTTGAACCTGGGAGGTGGAGGTTGCAGTGAGCCGAGATCGTGCCACTGCACTCTAGCCTGGGTGATAGACTAAGACTCCATCTCAAAAAAAAAAAAAAATTAATAAAACACTTACCATGTGCTGGACACTTTTGGGAGCAGGGTTGATAAGTGGTGAACAAGACAGATGAGATGAAGGCCCTTCTCTCGTGTAGTTTCCTAACTCATATAATCTGGACTCCTAGGAGTGAGTCCCTCAGCTTTGGCCTGGTATATTTAAAGTAGTCATAGACCATTAATATTAACATATGTACGTTGAAATGAGGATCACTTGAGTACATTGGGAGGCTGGGGAAAGTGGGGCCTGTAATTTAAGGAAGGCTTTATTGATTTTGAACTGAATAACACAGTACTAAATGGAAGGAATGGAACTGAGAAACAGCCTAAGAGAAAAGTAAGGGTGACAAAAATATTGACAAGTTTTTTGTTTGATTGTTTTCCTGGCTGGAGGAGAGGACATAGTGAAGGCGTGTTGCAGTAGGGTTCATGGATGGGGGAAATTCAGCCCTAAAATATAGGTATAGTGTGTATTATCACACTGTTAAGAAATCTACTGTAATATGCCAATTGTATTGGGAACATGGAATTAAATGCTTAGGTTTGTCTTATGGAAATCTTGACAAAGGAGGGAGTAGCACTAGAAGGAGAAAAAGATAAGTGGGAGGTTCACCAGACAGGCAAGCACACAGGGGTATTATTGTCAGACAGCTGTGGGCTACTTGAGCTGCGGTCATTGCTGAGTTACCATGAGGGCATCTGGAAGCTGAATGAGGAAGACATGGAAATAATCTGAATATAGAGTCCTGGAAGTTCGTTGAGAGAAGGGATTGTTACCAAGGGGCAGGATCTTGGCAATGGATTAGGAGGAGTGTTTCATATATGACAGTGAAGGATCTGCACCAGCATCTCCTTACTGGGCTCTGTGTTAATCAAAGGCACACATTTGCATGTTAGCTGACTCAGGTTAAAGTGTTATCTCTAGTCTTAGAGCAGAGAAAATGTTTGTTTGTTCCAAAGATGGATTAATCTAGATCTTTTCTTGATTGAGTTAATTTGCTTCAGATTAACTGTTGAAGATTAAGCAGTCAAGTATGTCATTCCAGGATGGCAGATGGGACACAAGACATAATAGAACTGAGGCTAAGGGTATATATTGTTTTTTTCTTATTTATCATCAATTATTTTCACCTTCAGTTTCTTGATGACTTTGGATATCACACTGGGTCCCACCGCAGTGTGGTTTTCAGTAAATATACTTTATTAAAAGCTGAAGTGCTAGCCCAAAGTAAGGAGATAAAACAGACTACACGATATCTAGGCTCTATGTAGTGAGGAGCCCCAGGGTTTCACTTAAAAATCTTCTCCCATAAAGTTGACCAGACTTGATATTTTTTAGCCTGTGATGGGATAAGACCACACCTCAGGGCTCTCCCTGAGAGAAAGCCTGCAGACAGGTGGTGCCTTGATCTGTATGATGCAATCTGCAGATGGGGCATCCCTCTTCCTTCTGTGGCATAATTCCTACGGACAGCTTAACATGGGGATTTAATAAAAATGTACATATTTTCTGTGAAGAATCCAACAACAAATGAAAGAAGTTTTTGCCTGCCTTTGAAATGGGTGGACCCTGAAACATTGGTCTGTTTGAAGTGGCATCACAACCCATACACAGATGCTTCATTCCTGTCGGCCATTACTGGACTGGACTAGAACACTAAGTCCTGATAAGACACATCATTTGCAATGAGAATATATTCTGTTTGTAAGCCTTTCTGATGTGCCATTATTGCTGCTGTGTTTCCTGTTTTATGTAGGTGGTAGCCCTCGGAGAGGTACCAGATGGGACTGTGGTTACTGTCATGGCGGGTAACGATGAAAATTATTCTGCTGAGCTCCGGAATGCCTCTGCTGTTATGAAAAACCAAGTAGCAAGGTTCAACGATCTGAGATTTGTGGGCCGGAGTGGACGAGGTAGGTCTCTGACTTTTGATACTGATAATAGAATAAGCACATTAGGCTCCTTTGATGAAATGTAGACTAGTCTGTATACAAATCAGCACCTTCTTTTTCTGAATAGAATTACTGAAGATTTGATTTAAATACATCCAGATGAAGTTGAGTGTTTTTCTGAGTACTCAGGCCTTTTTCATTTATTTTATGATATTGAAAATTCAAACAATGTTTTCAGAAAAACTAGCTCCTAATTTCACTGGGTGTGAGCATATAAGGTAGAGAAAAGAACAGTTGGAGGATCAACTTCTGAATTATGAGGAGTCAAATAACTGAGTAAATTGAGTGGTAAAGGGGAAAGAAAAATGGATATGTTGGATCAATTTCCTGGTAATATCAATTTTGGTCTAAGTTGTAGCAAGGACAGCTGGCATAATGCTCTTCACTTATCACAGGTTACCTCTATATGATTTAATTTACTCTCATAGTAAGAATTTATTAAAAACCATGGTTTTTTTTTAACATAAGGCTTTTCATTTGAATAAGTGAATAATGTATTACTTATGTTAGAGTGACTATGTAAGGTTGCCTAGACAGATGAATGATTAGTACTCTAATATTAATAGTTCCATACTATGTAAGGATTCCCATCATCTGAATCCATATTCAAAAATTAGAGATCCTTAAATAGAAAATTATCCCTTTTAGGGTTTTTGTAACTGTTTGATAAATGAGGTTAATGTTTTTTAAAAAAGTCTTTAAGGAGGCCAATATTTTGGCTTTTATTTACTTATTCTACAGAAAGACTTTTACTAGTTACTCACTATTAGAAGCATTATGCTTATTTATTTACTTAACTGAATCTAATATTTCCATTTTAAGTATTTTGATAAGAAGAAAGAAAATAGACCACTTTAGAACTGAGGTGAAATAAAGCCTTATGGAATCATTGCAACCCAGGTTTGAATAGGAAATGAGGAGCACCACTTTTTAAACCATGTCTAATAATTGCTCTTTAGTTTGGATCAGATGTCAAATTATTACCATTGTAAAAACTTGATAAGGGAAATTCAAGCAAGGCTGTTTCCGATGAGTAGTGTTAGTTTACTTTCTAGGAACAGGGCCAAGAAGTTGTACTTTTTAACTTAAAAAAAATGATTCATGCTAATGAGATACTGTCACTGACATGTTGTTTGAAATAAAATGAGGCTCACAGCCTCCGGTAGAATCAAAACTAAGGGAGTTATCTCTGCATCAGGTTTAGTTAACTTTCATAAAAAGAAGAAAAAAAGACACATCCTATATCACTATTGACTGATTAGGTTTGGAGTATGTGTGTGTGTGTATTCATTCTTCCTTTTTCTCATTTACTTATGCAGGTCCACTATGCAATTAAAGTTTTCCTTTTTTTCTAGTTAGAATCAAGAAAAATGTGAACATGATGATTTACCTGTATGCTCTGAATTGCATCTTTCTTCTTATGTAATAATACTTTTTTTTTTTAACTAGAGTAATGAATTTTAGTTTTTAAAGGATTGGGTGCCATGCTTAATTTTACATTACAGATTCAAACTAGTGTTTTCATTTATCTTACTTTTGTATTATATAGATGCTGCATAACTTTTTTCTGATCAATTTAAGTAGAAAGTATGGCAAAGTGATAGTGTACTTTGTAAACCCTCAACATATTTATTTAAGAAACTTCAAAGAGAAACAAAGGGTGTGCACTGTTTTACTATATTGGCTTTCTGAGTTTTGGCTGGTTTCCCAAATAGCAATTTTTATATTTAAAAAAAAAGACAGACTTAACTGCTTGCAGACTTTTCACGCATGGAAGATGAAGAAAGCTTCTTTTGATGAAGTGTAATTATGTCCAAACAGAGCTGACCCCCTCCCCCTATATTTCTTATGATCTTAACTGAAGAAAGTAGGATTTTTCCTTTGAAGCAGCCGGGACTTGGTGG
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GCGGATCACCTGAGGTCAGGGGTTCAAGACCAGCCTGGCCAACATGGTGAAACCCCTTCTCTACTAAAAATACAAAAATTAGCCAGGTGTGGTGGTGCACACCTGTAATCCCAGCTACTCGGGAGGCTGAGGCAGGAGAGTCACTTGAACCTGGGAGGTGGAGGTTGCAGTGAGCCGAGATCGTGCCACTGCACTCTAGCCTGGGTGATAGACTAAGACTCCATCTCAAAAAAAAAAAAAAATTAATAAAACACTTACCATGTGCTGGACACTTTTGGGAGCAGGGTTGATAAGTGGTGAACAAGACAGATGAGATGAAGGCCCTTCTCTCGTGTAGTTTCCTAACTCATATAATCTGGACTCCTAGGAGTGAGTCCCTCAGCTTTGGCCTGGTATATTTAAAGTAGTCATAGACCATTAATATTAACATATGTACGTTGAAATGAGGATCACTTGAGTACATTGGGAGGCTGGGGAAAGTGGGGCCTGTAATTTAAGGAAGGCTTTATTGATTTTGAACTGAATAACACAGTACTAAATGGAAGGAATGGAACTGAGAAACAGCCTAAGAGAAAAGTAAGGGTGACAAAAATATTGACAAGTTTTTTGTTTGATTGTTTTCCTGGCTGGAGGAGAGGACATAGTGAAGGCGTGTTGCAGTAGGGTTCATGGATGGGGGAAATTCAGCCCTAAAATATAGGTATAGTGTGTATTATCACACTGTTAAGAAATCTACTGTAATATGCCAATTGTATTGGGAACATGGAATTAAATGCTTAGGTTTGTCTTATGGAAATCTTGACAAAGGAGGGAGTAGCACTAGAAGGAGAAAAAGATAAGTGGGAGGTTCACCAGACAGGCAAGCACACAGGGGTATTATTGTCAGACAGCTGTGGGCTACTTGAGCTGCGGTCATTGCTGAGTTACCATGAGGGCATCTGGAAGCTGAATGAGGAAGACATGGAAATAATCTGAATATAGAGTCCTGGAAGTTCGTTGAGAGAAGGGATTGTTACCAAGGGGCAGGATCTTGGCAATGGATTAGGAGGAGTGTTTCATATATGACAGTGAAGGATCTGCACCAGCATCTCCTTACTGGGCTCTGTGTTAATCAAAGGCACACATTTGCATGTTAGCTGACTCAGGTTAAAGTGTTATCTCTAGTCTTAGAGCAGAGAAAATGTTTGTTTGTTCCAAAGATGGATTAATCTAGATCTTTTCTTGATTGAGTTAATTTGCTTCAGATTAACTGTTGAAGATTAAGCAGTCAAGTATGTCATTCCAGGATGGCAGATGGGACACAAGACATAATAGAACTGAGGCTAAGGGTATATATTGTTTTTTTCTTATTTATCATCAATTATTTTCACCTTCAGTTTCTTGATGACTTTGGATATCACACTGGGTCCCACCGCAGTGTGGTTTTCAGTAAATATACTTTATTAAAAGCTGAAGTGCTAGCCCAAAGTAAGGAGATAAAACAGACTACACGATATCTAGGCTCTATGTAGTGAGGAGCCCCAGGGTTTCACTTAAAAATCTTCTCCCATAAAGTTGACCAGACTTGATATTTTTTAGCCTGTGATGGGATAAGACCACACCTCAGGGCTCTCCCTGAGAGAAAGCCTGCAGACAGGTGGTGCCTTGATCTGTATGATGCAATCTGCAGATGGGGCATCCCTCTTCCTTCTGTGGCATAATTCCTACGGACAGCTTAACATGGGGATTTAATAAAAATGTACATATTTTCTGTGAAGAATCCAACAACAAATGAAAGAAGTTTTTGCCTGCCTTTGAAATGGGTGGACCCTGAAACATTGGTCTGTTTGAAGTGGCATCACAACCCATACACAGATGCTTCATTCCTGTCGGCCATTACTGGACTGGACTAGAACACTAAGTCCTGATAAGACACATCATTTGCAATGAGAATATATTCTGTTTGTAAGCCTTTCTGATGTGCCATTATTGCTGCTGTGTTTCCTGTTTTATGTAGGTGGTAGCCCTCGGAGAGGTACCAGATGGGACTGTGGTTACTGTCATGGCGGATAACGATGAAAATTATTCTGCTGAGCTCCGGAATGCCTCTGCTGTTATGAAAAACCAAGTAGCAAGGTTCAACGATCTGAGATTTGTGGGCCGGAGTGGACGAGGTAGGTCTCTGACTTTTGATACTGATAATAGAATAAGCACATTAGGCTCCTTTGATGAAATGTAGACTAGTCTGTATACAAATCAGCACCTTCTTTTTCTGAATAGAATTACTGAAGATTTGATTTAAATACATCCAGATGAAGTTGAGTGTTTTTCTGAGTACTCAGGCCTTTTTCATTTATTTTATGATATTGAAAATTCAAACAATGTTTTCAGAAAAACTAGCTCCTAATTTCACTGGGTGTGAGCATATAAGGTAGAGAAAAGAACAGTTGGAGGATCAACTTCTGAATTATGAGGAGTCAAATAACTGAGTAAATTGAGTGGTAAAGGGGAAAGAAAAATGGATATGTTGGATCAATTTCCTGGTAATATCAATTTTGGTCTAAGTTGTAGCAAGGACAGCTGGCATAATGCTCTTCACTTATCACAGGTTACCTCTATATGATTTAATTTACTCTCATAGTAAGAATTTATTAAAAACCATGGTTTTTTTTTAACATAAGGCTTTTCATTTGAATAAGTGAATAATGTATTACTTATGTTAGAGTGACTATGTAAGGTTGCCTAGACAGATGAATGATTAGTACTCTAATATTAATAGTTCCATACTATGTAAGGATTCCCATCATCTGAATCCATATTCAAAAATTAGAGATCCTTAAATAGAAAATTATCCCTTTTAGGGTTTTTGTAACTGTTTGATAAATGAGGTTAATGTTTTTTAAAAAAGTCTTTAAGGAGGCCAATATTTTGGCTTTTATTTACTTATTCTACAGAAAGACTTTTACTAGTTACTCACTATTAGAAGCATTATGCTTATTTATTTACTTAACTGAATCTAATATTTCCATTTTAAGTATTTTGATAAGAAGAAAGAAAATAGACCACTTTAGAACTGAGGTGAAATAAAGCCTTATGGAATCATTGCAACCCAGGTTTGAATAGGAAATGAGGAGCACCACTTTTTAAACCATGTCTAATAATTGCTCTTTAGTTTGGATCAGATGTCAAATTATTACCATTGTAAAAACTTGATAAGGGAAATTCAAGCAAGGCTGTTTCCGATGAGTAGTGTTAGTTTACTTTCTAGGAACAGGGCCAAGAAGTTGTACTTTTTAACTTAAAAAAAATGATTCATGCTAATGAGATACTGTCACTGACATGTTGTTTGAAATAAAATGAGGCTCACAGCCTCCGGTAGAATCAAAACTAAGGGAGTTATCTCTGCATCAGGTTTAGTTAACTTTCATAAAAAGAAGAAAAAAAGACACATCCTATATCACTATTGACTGATTAGGTTTGGAGTATGTGTGTGTGTGTATTCATTCTTCCTTTTTCTCATTTACTTATGCAGGTCCACTATGCAATTAAAGTTTTCCTTTTTTTCTAGTTAGAATCAAGAAAAATGTGAACATGATGATTTACCTGTATGCTCTGAATTGCATCTTTCTTCTTATGTAATAATACTTTTTTTTTTTAACTAGAGTAATGAATTTTAGTTTTTAAAGGATTGGGTGCCATGCTTAATTTTACATTACAGATTCAAACTAGTGTTTTCATTTATCTTACTTTTGTATTATATAGATGCTGCATAACTTTTTTCTGATCAATTTAAGTAGAAAGTATGGCAAAGTGATAGTGTACTTTGTAAACCCTCAACATATTTATTTAAGAAACTTCAAAGAGAAACAAAGGGTGTGCACTGTTTTACTATATTGGCTTTCTGAGTTTTGGCTGGTTTCCCAAATAGCAATTTTTATATTTAAAAAAAAAGACAGACTTAACTGCTTGCAGACTTTTCACGCATGGAAGATGAAGAAAGCTTCTTTTGATGAAGTGTAATTATGTCCAAACAGAGCTGACCCCCTCCCCCTATATTTCTTATGATCTTAACTGAAGAAAGTAGGATTTTTCCTTTGAAGCAGCCGGGACTTGGTGG
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Task1_train_10398
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Here is a mutation in RUNX2 (RUNX family transcription factor 2) on Chromosome 6. Determine whether it’s benign or pathogenic. If the latter, what disease does it cause?
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Pathogenic; not provided
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CCAGCCTGGCCAACATGGTGAAACCCCTTCTCTACTAAAAATACAAAAATTAGCCAGGTGTGGTGGTGCACACCTGTAATCCCAGCTACTCGGGAGGCTGAGGCAGGAGAGTCACTTGAACCTGGGAGGTGGAGGTTGCAGTGAGCCGAGATCGTGCCACTGCACTCTAGCCTGGGTGATAGACTAAGACTCCATCTCAAAAAAAAAAAAAAATTAATAAAACACTTACCATGTGCTGGACACTTTTGGGAGCAGGGTTGATAAGTGGTGAACAAGACAGATGAGATGAAGGCCCTTCTCTCGTGTAGTTTCCTAACTCATATAATCTGGACTCCTAGGAGTGAGTCCCTCAGCTTTGGCCTGGTATATTTAAAGTAGTCATAGACCATTAATATTAACATATGTACGTTGAAATGAGGATCACTTGAGTACATTGGGAGGCTGGGGAAAGTGGGGCCTGTAATTTAAGGAAGGCTTTATTGATTTTGAACTGAATAACACAGTACTAAATGGAAGGAATGGAACTGAGAAACAGCCTAAGAGAAAAGTAAGGGTGACAAAAATATTGACAAGTTTTTTGTTTGATTGTTTTCCTGGCTGGAGGAGAGGACATAGTGAAGGCGTGTTGCAGTAGGGTTCATGGATGGGGGAAATTCAGCCCTAAAATATAGGTATAGTGTGTATTATCACACTGTTAAGAAATCTACTGTAATATGCCAATTGTATTGGGAACATGGAATTAAATGCTTAGGTTTGTCTTATGGAAATCTTGACAAAGGAGGGAGTAGCACTAGAAGGAGAAAAAGATAAGTGGGAGGTTCACCAGACAGGCAAGCACACAGGGGTATTATTGTCAGACAGCTGTGGGCTACTTGAGCTGCGGTCATTGCTGAGTTACCATGAGGGCATCTGGAAGCTGAATGAGGAAGACATGGAAATAATCTGAATATAGAGTCCTGGAAGTTCGTTGAGAGAAGGGATTGTTACCAAGGGGCAGGATCTTGGCAATGGATTAGGAGGAGTGTTTCATATATGACAGTGAAGGATCTGCACCAGCATCTCCTTACTGGGCTCTGTGTTAATCAAAGGCACACATTTGCATGTTAGCTGACTCAGGTTAAAGTGTTATCTCTAGTCTTAGAGCAGAGAAAATGTTTGTTTGTTCCAAAGATGGATTAATCTAGATCTTTTCTTGATTGAGTTAATTTGCTTCAGATTAACTGTTGAAGATTAAGCAGTCAAGTATGTCATTCCAGGATGGCAGATGGGACACAAGACATAATAGAACTGAGGCTAAGGGTATATATTGTTTTTTTCTTATTTATCATCAATTATTTTCACCTTCAGTTTCTTGATGACTTTGGATATCACACTGGGTCCCACCGCAGTGTGGTTTTCAGTAAATATACTTTATTAAAAGCTGAAGTGCTAGCCCAAAGTAAGGAGATAAAACAGACTACACGATATCTAGGCTCTATGTAGTGAGGAGCCCCAGGGTTTCACTTAAAAATCTTCTCCCATAAAGTTGACCAGACTTGATATTTTTTAGCCTGTGATGGGATAAGACCACACCTCAGGGCTCTCCCTGAGAGAAAGCCTGCAGACAGGTGGTGCCTTGATCTGTATGATGCAATCTGCAGATGGGGCATCCCTCTTCCTTCTGTGGCATAATTCCTACGGACAGCTTAACATGGGGATTTAATAAAAATGTACATATTTTCTGTGAAGAATCCAACAACAAATGAAAGAAGTTTTTGCCTGCCTTTGAAATGGGTGGACCCTGAAACATTGGTCTGTTTGAAGTGGCATCACAACCCATACACAGATGCTTCATTCCTGTCGGCCATTACTGGACTGGACTAGAACACTAAGTCCTGATAAGACACATCATTTGCAATGAGAATATATTCTGTTTGTAAGCCTTTCTGATGTGCCATTATTGCTGCTGTGTTTCCTGTTTTATGTAGGTGGTAGCCCTCGGAGAGGTACCAGATGGGACTGTGGTTACTGTCATGGCGGGTAACGATGAAAATTATTCTGCTGAGCTCCGGAATGCCTCTGCTGTTATGAAAAACCAAGTAGCAAGGTTCAACGATCTGAGATTTGTGGGCCGGAGTGGACGAGGTAGGTCTCTGACTTTTGATACTGATAATAGAATAAGCACATTAGGCTCCTTTGATGAAATGTAGACTAGTCTGTATACAAATCAGCACCTTCTTTTTCTGAATAGAATTACTGAAGATTTGATTTAAATACATCCAGATGAAGTTGAGTGTTTTTCTGAGTACTCAGGCCTTTTTCATTTATTTTATGATATTGAAAATTCAAACAATGTTTTCAGAAAAACTAGCTCCTAATTTCACTGGGTGTGAGCATATAAGGTAGAGAAAAGAACAGTTGGAGGATCAACTTCTGAATTATGAGGAGTCAAATAACTGAGTAAATTGAGTGGTAAAGGGGAAAGAAAAATGGATATGTTGGATCAATTTCCTGGTAATATCAATTTTGGTCTAAGTTGTAGCAAGGACAGCTGGCATAATGCTCTTCACTTATCACAGGTTACCTCTATATGATTTAATTTACTCTCATAGTAAGAATTTATTAAAAACCATGGTTTTTTTTTAACATAAGGCTTTTCATTTGAATAAGTGAATAATGTATTACTTATGTTAGAGTGACTATGTAAGGTTGCCTAGACAGATGAATGATTAGTACTCTAATATTAATAGTTCCATACTATGTAAGGATTCCCATCATCTGAATCCATATTCAAAAATTAGAGATCCTTAAATAGAAAATTATCCCTTTTAGGGTTTTTGTAACTGTTTGATAAATGAGGTTAATGTTTTTTAAAAAAGTCTTTAAGGAGGCCAATATTTTGGCTTTTATTTACTTATTCTACAGAAAGACTTTTACTAGTTACTCACTATTAGAAGCATTATGCTTATTTATTTACTTAACTGAATCTAATATTTCCATTTTAAGTATTTTGATAAGAAGAAAGAAAATAGACCACTTTAGAACTGAGGTGAAATAAAGCCTTATGGAATCATTGCAACCCAGGTTTGAATAGGAAATGAGGAGCACCACTTTTTAAACCATGTCTAATAATTGCTCTTTAGTTTGGATCAGATGTCAAATTATTACCATTGTAAAAACTTGATAAGGGAAATTCAAGCAAGGCTGTTTCCGATGAGTAGTGTTAGTTTACTTTCTAGGAACAGGGCCAAGAAGTTGTACTTTTTAACTTAAAAAAAATGATTCATGCTAATGAGATACTGTCACTGACATGTTGTTTGAAATAAAATGAGGCTCACAGCCTCCGGTAGAATCAAAACTAAGGGAGTTATCTCTGCATCAGGTTTAGTTAACTTTCATAAAAAGAAGAAAAAAAGACACATCCTATATCACTATTGACTGATTAGGTTTGGAGTATGTGTGTGTGTGTATTCATTCTTCCTTTTTCTCATTTACTTATGCAGGTCCACTATGCAATTAAAGTTTTCCTTTTTTTCTAGTTAGAATCAAGAAAAATGTGAACATGATGATTTACCTGTATGCTCTGAATTGCATCTTTCTTCTTATGTAATAATACTTTTTTTTTTTAACTAGAGTAATGAATTTTAGTTTTTAAAGGATTGGGTGCCATGCTTAATTTTACATTACAGATTCAAACTAGTGTTTTCATTTATCTTACTTTTGTATTATATAGATGCTGCATAACTTTTTTCTGATCAATTTAAGTAGAAAGTATGGCAAAGTGATAGTGTACTTTGTAAACCCTCAACATATTTATTTAAGAAACTTCAAAGAGAAACAAAGGGTGTGCACTGTTTTACTATATTGGCTTTCTGAGTTTTGGCTGGTTTCCCAAATAGCAATTTTTATATTTAAAAAAAAAGACAGACTTAACTGCTTGCAGACTTTTCACGCATGGAAGATGAAGAAAGCTTCTTTTGATGAAGTGTAATTATGTCCAAACAGAGCTGACCCCCTCCCCCTATATTTCTTATGATCTTAACTGAAGAAAGTAGGATTTTTCCTTTGAAGCAGCCGGGACTTGGTGGAGGATCTGAAATGCTACAGTCTGCTGCCA
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CCAGCCTGGCCAACATGGTGAAACCCCTTCTCTACTAAAAATACAAAAATTAGCCAGGTGTGGTGGTGCACACCTGTAATCCCAGCTACTCGGGAGGCTGAGGCAGGAGAGTCACTTGAACCTGGGAGGTGGAGGTTGCAGTGAGCCGAGATCGTGCCACTGCACTCTAGCCTGGGTGATAGACTAAGACTCCATCTCAAAAAAAAAAAAAAATTAATAAAACACTTACCATGTGCTGGACACTTTTGGGAGCAGGGTTGATAAGTGGTGAACAAGACAGATGAGATGAAGGCCCTTCTCTCGTGTAGTTTCCTAACTCATATAATCTGGACTCCTAGGAGTGAGTCCCTCAGCTTTGGCCTGGTATATTTAAAGTAGTCATAGACCATTAATATTAACATATGTACGTTGAAATGAGGATCACTTGAGTACATTGGGAGGCTGGGGAAAGTGGGGCCTGTAATTTAAGGAAGGCTTTATTGATTTTGAACTGAATAACACAGTACTAAATGGAAGGAATGGAACTGAGAAACAGCCTAAGAGAAAAGTAAGGGTGACAAAAATATTGACAAGTTTTTTGTTTGATTGTTTTCCTGGCTGGAGGAGAGGACATAGTGAAGGCGTGTTGCAGTAGGGTTCATGGATGGGGGAAATTCAGCCCTAAAATATAGGTATAGTGTGTATTATCACACTGTTAAGAAATCTACTGTAATATGCCAATTGTATTGGGAACATGGAATTAAATGCTTAGGTTTGTCTTATGGAAATCTTGACAAAGGAGGGAGTAGCACTAGAAGGAGAAAAAGATAAGTGGGAGGTTCACCAGACAGGCAAGCACACAGGGGTATTATTGTCAGACAGCTGTGGGCTACTTGAGCTGCGGTCATTGCTGAGTTACCATGAGGGCATCTGGAAGCTGAATGAGGAAGACATGGAAATAATCTGAATATAGAGTCCTGGAAGTTCGTTGAGAGAAGGGATTGTTACCAAGGGGCAGGATCTTGGCAATGGATTAGGAGGAGTGTTTCATATATGACAGTGAAGGATCTGCACCAGCATCTCCTTACTGGGCTCTGTGTTAATCAAAGGCACACATTTGCATGTTAGCTGACTCAGGTTAAAGTGTTATCTCTAGTCTTAGAGCAGAGAAAATGTTTGTTTGTTCCAAAGATGGATTAATCTAGATCTTTTCTTGATTGAGTTAATTTGCTTCAGATTAACTGTTGAAGATTAAGCAGTCAAGTATGTCATTCCAGGATGGCAGATGGGACACAAGACATAATAGAACTGAGGCTAAGGGTATATATTGTTTTTTTCTTATTTATCATCAATTATTTTCACCTTCAGTTTCTTGATGACTTTGGATATCACACTGGGTCCCACCGCAGTGTGGTTTTCAGTAAATATACTTTATTAAAAGCTGAAGTGCTAGCCCAAAGTAAGGAGATAAAACAGACTACACGATATCTAGGCTCTATGTAGTGAGGAGCCCCAGGGTTTCACTTAAAAATCTTCTCCCATAAAGTTGACCAGACTTGATATTTTTTAGCCTGTGATGGGATAAGACCACACCTCAGGGCTCTCCCTGAGAGAAAGCCTGCAGACAGGTGGTGCCTTGATCTGTATGATGCAATCTGCAGATGGGGCATCCCTCTTCCTTCTGTGGCATAATTCCTACGGACAGCTTAACATGGGGATTTAATAAAAATGTACATATTTTCTGTGAAGAATCCAACAACAAATGAAAGAAGTTTTTGCCTGCCTTTGAAATGGGTGGACCCTGAAACATTGGTCTGTTTGAAGTGGCATCACAACCCATACACAGATGCTTCATTCCTGTCGGCCATTACTGGACTGGACTAGAACACTAAGTCCTGATAAGACACATCATTTGCAATGAGAATATATTCTGTTTGTAAGCCTTTCTGATGTGCCATTATTGCTGCTGTGTTTCCTGTTTTATGTAGGTGGTAGCCCTCGGAGAGGTACCAGATGGGACTGTGGTTACTGTCATGGCGGGTAACGATGAAAATTATTCTGCTGAGCTCTGGAATGCCTCTGCTGTTATGAAAAACCAAGTAGCAAGGTTCAACGATCTGAGATTTGTGGGCCGGAGTGGACGAGGTAGGTCTCTGACTTTTGATACTGATAATAGAATAAGCACATTAGGCTCCTTTGATGAAATGTAGACTAGTCTGTATACAAATCAGCACCTTCTTTTTCTGAATAGAATTACTGAAGATTTGATTTAAATACATCCAGATGAAGTTGAGTGTTTTTCTGAGTACTCAGGCCTTTTTCATTTATTTTATGATATTGAAAATTCAAACAATGTTTTCAGAAAAACTAGCTCCTAATTTCACTGGGTGTGAGCATATAAGGTAGAGAAAAGAACAGTTGGAGGATCAACTTCTGAATTATGAGGAGTCAAATAACTGAGTAAATTGAGTGGTAAAGGGGAAAGAAAAATGGATATGTTGGATCAATTTCCTGGTAATATCAATTTTGGTCTAAGTTGTAGCAAGGACAGCTGGCATAATGCTCTTCACTTATCACAGGTTACCTCTATATGATTTAATTTACTCTCATAGTAAGAATTTATTAAAAACCATGGTTTTTTTTTAACATAAGGCTTTTCATTTGAATAAGTGAATAATGTATTACTTATGTTAGAGTGACTATGTAAGGTTGCCTAGACAGATGAATGATTAGTACTCTAATATTAATAGTTCCATACTATGTAAGGATTCCCATCATCTGAATCCATATTCAAAAATTAGAGATCCTTAAATAGAAAATTATCCCTTTTAGGGTTTTTGTAACTGTTTGATAAATGAGGTTAATGTTTTTTAAAAAAGTCTTTAAGGAGGCCAATATTTTGGCTTTTATTTACTTATTCTACAGAAAGACTTTTACTAGTTACTCACTATTAGAAGCATTATGCTTATTTATTTACTTAACTGAATCTAATATTTCCATTTTAAGTATTTTGATAAGAAGAAAGAAAATAGACCACTTTAGAACTGAGGTGAAATAAAGCCTTATGGAATCATTGCAACCCAGGTTTGAATAGGAAATGAGGAGCACCACTTTTTAAACCATGTCTAATAATTGCTCTTTAGTTTGGATCAGATGTCAAATTATTACCATTGTAAAAACTTGATAAGGGAAATTCAAGCAAGGCTGTTTCCGATGAGTAGTGTTAGTTTACTTTCTAGGAACAGGGCCAAGAAGTTGTACTTTTTAACTTAAAAAAAATGATTCATGCTAATGAGATACTGTCACTGACATGTTGTTTGAAATAAAATGAGGCTCACAGCCTCCGGTAGAATCAAAACTAAGGGAGTTATCTCTGCATCAGGTTTAGTTAACTTTCATAAAAAGAAGAAAAAAAGACACATCCTATATCACTATTGACTGATTAGGTTTGGAGTATGTGTGTGTGTGTATTCATTCTTCCTTTTTCTCATTTACTTATGCAGGTCCACTATGCAATTAAAGTTTTCCTTTTTTTCTAGTTAGAATCAAGAAAAATGTGAACATGATGATTTACCTGTATGCTCTGAATTGCATCTTTCTTCTTATGTAATAATACTTTTTTTTTTTAACTAGAGTAATGAATTTTAGTTTTTAAAGGATTGGGTGCCATGCTTAATTTTACATTACAGATTCAAACTAGTGTTTTCATTTATCTTACTTTTGTATTATATAGATGCTGCATAACTTTTTTCTGATCAATTTAAGTAGAAAGTATGGCAAAGTGATAGTGTACTTTGTAAACCCTCAACATATTTATTTAAGAAACTTCAAAGAGAAACAAAGGGTGTGCACTGTTTTACTATATTGGCTTTCTGAGTTTTGGCTGGTTTCCCAAATAGCAATTTTTATATTTAAAAAAAAAGACAGACTTAACTGCTTGCAGACTTTTCACGCATGGAAGATGAAGAAAGCTTCTTTTGATGAAGTGTAATTATGTCCAAACAGAGCTGACCCCCTCCCCCTATATTTCTTATGATCTTAACTGAAGAAAGTAGGATTTTTCCTTTGAAGCAGCCGGGACTTGGTGGAGGATCTGAAATGCTACAGTCTGCTGCCA
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Task1_train_10399
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This alteration occurs within gene RUNX2 (RUNX family transcription factor 2) located on Chromosome 6. Is it associated with a disease or is it a benign variant?
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Pathogenic; Cleidocranial dysostosis
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CAGCCTGGCCAACATGGTGAAACCCCTTCTCTACTAAAAATACAAAAATTAGCCAGGTGTGGTGGTGCACACCTGTAATCCCAGCTACTCGGGAGGCTGAGGCAGGAGAGTCACTTGAACCTGGGAGGTGGAGGTTGCAGTGAGCCGAGATCGTGCCACTGCACTCTAGCCTGGGTGATAGACTAAGACTCCATCTCAAAAAAAAAAAAAAATTAATAAAACACTTACCATGTGCTGGACACTTTTGGGAGCAGGGTTGATAAGTGGTGAACAAGACAGATGAGATGAAGGCCCTTCTCTCGTGTAGTTTCCTAACTCATATAATCTGGACTCCTAGGAGTGAGTCCCTCAGCTTTGGCCTGGTATATTTAAAGTAGTCATAGACCATTAATATTAACATATGTACGTTGAAATGAGGATCACTTGAGTACATTGGGAGGCTGGGGAAAGTGGGGCCTGTAATTTAAGGAAGGCTTTATTGATTTTGAACTGAATAACACAGTACTAAATGGAAGGAATGGAACTGAGAAACAGCCTAAGAGAAAAGTAAGGGTGACAAAAATATTGACAAGTTTTTTGTTTGATTGTTTTCCTGGCTGGAGGAGAGGACATAGTGAAGGCGTGTTGCAGTAGGGTTCATGGATGGGGGAAATTCAGCCCTAAAATATAGGTATAGTGTGTATTATCACACTGTTAAGAAATCTACTGTAATATGCCAATTGTATTGGGAACATGGAATTAAATGCTTAGGTTTGTCTTATGGAAATCTTGACAAAGGAGGGAGTAGCACTAGAAGGAGAAAAAGATAAGTGGGAGGTTCACCAGACAGGCAAGCACACAGGGGTATTATTGTCAGACAGCTGTGGGCTACTTGAGCTGCGGTCATTGCTGAGTTACCATGAGGGCATCTGGAAGCTGAATGAGGAAGACATGGAAATAATCTGAATATAGAGTCCTGGAAGTTCGTTGAGAGAAGGGATTGTTACCAAGGGGCAGGATCTTGGCAATGGATTAGGAGGAGTGTTTCATATATGACAGTGAAGGATCTGCACCAGCATCTCCTTACTGGGCTCTGTGTTAATCAAAGGCACACATTTGCATGTTAGCTGACTCAGGTTAAAGTGTTATCTCTAGTCTTAGAGCAGAGAAAATGTTTGTTTGTTCCAAAGATGGATTAATCTAGATCTTTTCTTGATTGAGTTAATTTGCTTCAGATTAACTGTTGAAGATTAAGCAGTCAAGTATGTCATTCCAGGATGGCAGATGGGACACAAGACATAATAGAACTGAGGCTAAGGGTATATATTGTTTTTTTCTTATTTATCATCAATTATTTTCACCTTCAGTTTCTTGATGACTTTGGATATCACACTGGGTCCCACCGCAGTGTGGTTTTCAGTAAATATACTTTATTAAAAGCTGAAGTGCTAGCCCAAAGTAAGGAGATAAAACAGACTACACGATATCTAGGCTCTATGTAGTGAGGAGCCCCAGGGTTTCACTTAAAAATCTTCTCCCATAAAGTTGACCAGACTTGATATTTTTTAGCCTGTGATGGGATAAGACCACACCTCAGGGCTCTCCCTGAGAGAAAGCCTGCAGACAGGTGGTGCCTTGATCTGTATGATGCAATCTGCAGATGGGGCATCCCTCTTCCTTCTGTGGCATAATTCCTACGGACAGCTTAACATGGGGATTTAATAAAAATGTACATATTTTCTGTGAAGAATCCAACAACAAATGAAAGAAGTTTTTGCCTGCCTTTGAAATGGGTGGACCCTGAAACATTGGTCTGTTTGAAGTGGCATCACAACCCATACACAGATGCTTCATTCCTGTCGGCCATTACTGGACTGGACTAGAACACTAAGTCCTGATAAGACACATCATTTGCAATGAGAATATATTCTGTTTGTAAGCCTTTCTGATGTGCCATTATTGCTGCTGTGTTTCCTGTTTTATGTAGGTGGTAGCCCTCGGAGAGGTACCAGATGGGACTGTGGTTACTGTCATGGCGGGTAACGATGAAAATTATTCTGCTGAGCTCCGGAATGCCTCTGCTGTTATGAAAAACCAAGTAGCAAGGTTCAACGATCTGAGATTTGTGGGCCGGAGTGGACGAGGTAGGTCTCTGACTTTTGATACTGATAATAGAATAAGCACATTAGGCTCCTTTGATGAAATGTAGACTAGTCTGTATACAAATCAGCACCTTCTTTTTCTGAATAGAATTACTGAAGATTTGATTTAAATACATCCAGATGAAGTTGAGTGTTTTTCTGAGTACTCAGGCCTTTTTCATTTATTTTATGATATTGAAAATTCAAACAATGTTTTCAGAAAAACTAGCTCCTAATTTCACTGGGTGTGAGCATATAAGGTAGAGAAAAGAACAGTTGGAGGATCAACTTCTGAATTATGAGGAGTCAAATAACTGAGTAAATTGAGTGGTAAAGGGGAAAGAAAAATGGATATGTTGGATCAATTTCCTGGTAATATCAATTTTGGTCTAAGTTGTAGCAAGGACAGCTGGCATAATGCTCTTCACTTATCACAGGTTACCTCTATATGATTTAATTTACTCTCATAGTAAGAATTTATTAAAAACCATGGTTTTTTTTTAACATAAGGCTTTTCATTTGAATAAGTGAATAATGTATTACTTATGTTAGAGTGACTATGTAAGGTTGCCTAGACAGATGAATGATTAGTACTCTAATATTAATAGTTCCATACTATGTAAGGATTCCCATCATCTGAATCCATATTCAAAAATTAGAGATCCTTAAATAGAAAATTATCCCTTTTAGGGTTTTTGTAACTGTTTGATAAATGAGGTTAATGTTTTTTAAAAAAGTCTTTAAGGAGGCCAATATTTTGGCTTTTATTTACTTATTCTACAGAAAGACTTTTACTAGTTACTCACTATTAGAAGCATTATGCTTATTTATTTACTTAACTGAATCTAATATTTCCATTTTAAGTATTTTGATAAGAAGAAAGAAAATAGACCACTTTAGAACTGAGGTGAAATAAAGCCTTATGGAATCATTGCAACCCAGGTTTGAATAGGAAATGAGGAGCACCACTTTTTAAACCATGTCTAATAATTGCTCTTTAGTTTGGATCAGATGTCAAATTATTACCATTGTAAAAACTTGATAAGGGAAATTCAAGCAAGGCTGTTTCCGATGAGTAGTGTTAGTTTACTTTCTAGGAACAGGGCCAAGAAGTTGTACTTTTTAACTTAAAAAAAATGATTCATGCTAATGAGATACTGTCACTGACATGTTGTTTGAAATAAAATGAGGCTCACAGCCTCCGGTAGAATCAAAACTAAGGGAGTTATCTCTGCATCAGGTTTAGTTAACTTTCATAAAAAGAAGAAAAAAAGACACATCCTATATCACTATTGACTGATTAGGTTTGGAGTATGTGTGTGTGTGTATTCATTCTTCCTTTTTCTCATTTACTTATGCAGGTCCACTATGCAATTAAAGTTTTCCTTTTTTTCTAGTTAGAATCAAGAAAAATGTGAACATGATGATTTACCTGTATGCTCTGAATTGCATCTTTCTTCTTATGTAATAATACTTTTTTTTTTTAACTAGAGTAATGAATTTTAGTTTTTAAAGGATTGGGTGCCATGCTTAATTTTACATTACAGATTCAAACTAGTGTTTTCATTTATCTTACTTTTGTATTATATAGATGCTGCATAACTTTTTTCTGATCAATTTAAGTAGAAAGTATGGCAAAGTGATAGTGTACTTTGTAAACCCTCAACATATTTATTTAAGAAACTTCAAAGAGAAACAAAGGGTGTGCACTGTTTTACTATATTGGCTTTCTGAGTTTTGGCTGGTTTCCCAAATAGCAATTTTTATATTTAAAAAAAAAGACAGACTTAACTGCTTGCAGACTTTTCACGCATGGAAGATGAAGAAAGCTTCTTTTGATGAAGTGTAATTATGTCCAAACAGAGCTGACCCCCTCCCCCTATATTTCTTATGATCTTAACTGAAGAAAGTAGGATTTTTCCTTTGAAGCAGCCGGGACTTGGTGGAGGATCTGAAATGCTACAGTCTGCTGCCAG
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CAGCCTGGCCAACATGGTGAAACCCCTTCTCTACTAAAAATACAAAAATTAGCCAGGTGTGGTGGTGCACACCTGTAATCCCAGCTACTCGGGAGGCTGAGGCAGGAGAGTCACTTGAACCTGGGAGGTGGAGGTTGCAGTGAGCCGAGATCGTGCCACTGCACTCTAGCCTGGGTGATAGACTAAGACTCCATCTCAAAAAAAAAAAAAAATTAATAAAACACTTACCATGTGCTGGACACTTTTGGGAGCAGGGTTGATAAGTGGTGAACAAGACAGATGAGATGAAGGCCCTTCTCTCGTGTAGTTTCCTAACTCATATAATCTGGACTCCTAGGAGTGAGTCCCTCAGCTTTGGCCTGGTATATTTAAAGTAGTCATAGACCATTAATATTAACATATGTACGTTGAAATGAGGATCACTTGAGTACATTGGGAGGCTGGGGAAAGTGGGGCCTGTAATTTAAGGAAGGCTTTATTGATTTTGAACTGAATAACACAGTACTAAATGGAAGGAATGGAACTGAGAAACAGCCTAAGAGAAAAGTAAGGGTGACAAAAATATTGACAAGTTTTTTGTTTGATTGTTTTCCTGGCTGGAGGAGAGGACATAGTGAAGGCGTGTTGCAGTAGGGTTCATGGATGGGGGAAATTCAGCCCTAAAATATAGGTATAGTGTGTATTATCACACTGTTAAGAAATCTACTGTAATATGCCAATTGTATTGGGAACATGGAATTAAATGCTTAGGTTTGTCTTATGGAAATCTTGACAAAGGAGGGAGTAGCACTAGAAGGAGAAAAAGATAAGTGGGAGGTTCACCAGACAGGCAAGCACACAGGGGTATTATTGTCAGACAGCTGTGGGCTACTTGAGCTGCGGTCATTGCTGAGTTACCATGAGGGCATCTGGAAGCTGAATGAGGAAGACATGGAAATAATCTGAATATAGAGTCCTGGAAGTTCGTTGAGAGAAGGGATTGTTACCAAGGGGCAGGATCTTGGCAATGGATTAGGAGGAGTGTTTCATATATGACAGTGAAGGATCTGCACCAGCATCTCCTTACTGGGCTCTGTGTTAATCAAAGGCACACATTTGCATGTTAGCTGACTCAGGTTAAAGTGTTATCTCTAGTCTTAGAGCAGAGAAAATGTTTGTTTGTTCCAAAGATGGATTAATCTAGATCTTTTCTTGATTGAGTTAATTTGCTTCAGATTAACTGTTGAAGATTAAGCAGTCAAGTATGTCATTCCAGGATGGCAGATGGGACACAAGACATAATAGAACTGAGGCTAAGGGTATATATTGTTTTTTTCTTATTTATCATCAATTATTTTCACCTTCAGTTTCTTGATGACTTTGGATATCACACTGGGTCCCACCGCAGTGTGGTTTTCAGTAAATATACTTTATTAAAAGCTGAAGTGCTAGCCCAAAGTAAGGAGATAAAACAGACTACACGATATCTAGGCTCTATGTAGTGAGGAGCCCCAGGGTTTCACTTAAAAATCTTCTCCCATAAAGTTGACCAGACTTGATATTTTTTAGCCTGTGATGGGATAAGACCACACCTCAGGGCTCTCCCTGAGAGAAAGCCTGCAGACAGGTGGTGCCTTGATCTGTATGATGCAATCTGCAGATGGGGCATCCCTCTTCCTTCTGTGGCATAATTCCTACGGACAGCTTAACATGGGGATTTAATAAAAATGTACATATTTTCTGTGAAGAATCCAACAACAAATGAAAGAAGTTTTTGCCTGCCTTTGAAATGGGTGGACCCTGAAACATTGGTCTGTTTGAAGTGGCATCACAACCCATACACAGATGCTTCATTCCTGTCGGCCATTACTGGACTGGACTAGAACACTAAGTCCTGATAAGACACATCATTTGCAATGAGAATATATTCTGTTTGTAAGCCTTTCTGATGTGCCATTATTGCTGCTGTGTTTCCTGTTTTATGTAGGTGGTAGCCCTCGGAGAGGTACCAGATGGGACTGTGGTTACTGTCATGGCGGGTAACGATGAAAATTATTCTGCTGAGCTCCAGAATGCCTCTGCTGTTATGAAAAACCAAGTAGCAAGGTTCAACGATCTGAGATTTGTGGGCCGGAGTGGACGAGGTAGGTCTCTGACTTTTGATACTGATAATAGAATAAGCACATTAGGCTCCTTTGATGAAATGTAGACTAGTCTGTATACAAATCAGCACCTTCTTTTTCTGAATAGAATTACTGAAGATTTGATTTAAATACATCCAGATGAAGTTGAGTGTTTTTCTGAGTACTCAGGCCTTTTTCATTTATTTTATGATATTGAAAATTCAAACAATGTTTTCAGAAAAACTAGCTCCTAATTTCACTGGGTGTGAGCATATAAGGTAGAGAAAAGAACAGTTGGAGGATCAACTTCTGAATTATGAGGAGTCAAATAACTGAGTAAATTGAGTGGTAAAGGGGAAAGAAAAATGGATATGTTGGATCAATTTCCTGGTAATATCAATTTTGGTCTAAGTTGTAGCAAGGACAGCTGGCATAATGCTCTTCACTTATCACAGGTTACCTCTATATGATTTAATTTACTCTCATAGTAAGAATTTATTAAAAACCATGGTTTTTTTTTAACATAAGGCTTTTCATTTGAATAAGTGAATAATGTATTACTTATGTTAGAGTGACTATGTAAGGTTGCCTAGACAGATGAATGATTAGTACTCTAATATTAATAGTTCCATACTATGTAAGGATTCCCATCATCTGAATCCATATTCAAAAATTAGAGATCCTTAAATAGAAAATTATCCCTTTTAGGGTTTTTGTAACTGTTTGATAAATGAGGTTAATGTTTTTTAAAAAAGTCTTTAAGGAGGCCAATATTTTGGCTTTTATTTACTTATTCTACAGAAAGACTTTTACTAGTTACTCACTATTAGAAGCATTATGCTTATTTATTTACTTAACTGAATCTAATATTTCCATTTTAAGTATTTTGATAAGAAGAAAGAAAATAGACCACTTTAGAACTGAGGTGAAATAAAGCCTTATGGAATCATTGCAACCCAGGTTTGAATAGGAAATGAGGAGCACCACTTTTTAAACCATGTCTAATAATTGCTCTTTAGTTTGGATCAGATGTCAAATTATTACCATTGTAAAAACTTGATAAGGGAAATTCAAGCAAGGCTGTTTCCGATGAGTAGTGTTAGTTTACTTTCTAGGAACAGGGCCAAGAAGTTGTACTTTTTAACTTAAAAAAAATGATTCATGCTAATGAGATACTGTCACTGACATGTTGTTTGAAATAAAATGAGGCTCACAGCCTCCGGTAGAATCAAAACTAAGGGAGTTATCTCTGCATCAGGTTTAGTTAACTTTCATAAAAAGAAGAAAAAAAGACACATCCTATATCACTATTGACTGATTAGGTTTGGAGTATGTGTGTGTGTGTATTCATTCTTCCTTTTTCTCATTTACTTATGCAGGTCCACTATGCAATTAAAGTTTTCCTTTTTTTCTAGTTAGAATCAAGAAAAATGTGAACATGATGATTTACCTGTATGCTCTGAATTGCATCTTTCTTCTTATGTAATAATACTTTTTTTTTTTAACTAGAGTAATGAATTTTAGTTTTTAAAGGATTGGGTGCCATGCTTAATTTTACATTACAGATTCAAACTAGTGTTTTCATTTATCTTACTTTTGTATTATATAGATGCTGCATAACTTTTTTCTGATCAATTTAAGTAGAAAGTATGGCAAAGTGATAGTGTACTTTGTAAACCCTCAACATATTTATTTAAGAAACTTCAAAGAGAAACAAAGGGTGTGCACTGTTTTACTATATTGGCTTTCTGAGTTTTGGCTGGTTTCCCAAATAGCAATTTTTATATTTAAAAAAAAAGACAGACTTAACTGCTTGCAGACTTTTCACGCATGGAAGATGAAGAAAGCTTCTTTTGATGAAGTGTAATTATGTCCAAACAGAGCTGACCCCCTCCCCCTATATTTCTTATGATCTTAACTGAAGAAAGTAGGATTTTTCCTTTGAAGCAGCCGGGACTTGGTGGAGGATCTGAAATGCTACAGTCTGCTGCCAG
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Subsets and Splits
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