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_7000
|
A variant affecting Chromosome 3, within the gene USP19 (ubiquitin specific peptidase 19), has been observed. Determine if it's benign or associated with disease.
|
Pathogenic; Epileptic encephalopathy
|
TTGCCTCAGCCTCCCAAGTAGCTGGGACTATAACACGTACCACCATGCCCAGCTAATTTTATTTCTTGTAGAGACAGTGTTTCACCAAGTTGCCCAGGCTGGTCCCAAACTCCTGGGCTCAAGTGATCTGCCCACCTCGGCCTCACAAAGTGCTGGGACTACAGGCATGAGCCACTGTGCCCAGCCCATGTGTATGTCTGTAGATGCCAATGACTGTACACACGTCTGTGGTGAGTACACACACACATCCACACATGTGATAGCCCAAGGAAGGACAAAGATACCTCCGCCAAACGCAGGTTCTCAGGCTTCACATGAACACTCTGAGAGAGGGAGTCCAATACTTCGCTCGCAGTGGAGTTCTCCTTGCTGACGCTCACCAGGAACTGTGGCAAAAAGGGCAGTCAGTGAGGGAGGTGGGCCACGTTCTCTAGAACAGCCCAGAGGGTAGGGGCTTACTCCTCACCTTGATGGGCTTGCTGTGGGGCTCTCGGGCAAAATAAAAGACAGGGAGAACCTTTTGCTTTTGTGGCAAGGGCACCGGCAGATAAAGAAACGGGTCAAAAGTGATGGAGACCTGTGGATGTAGAGGTGGCACTGGGTAGCTGCACACAGAGTGGGAGATAAGATGCTCATGCTCAGAGAGCCCATTCCGGGGCTTCTGATGGCTCTCAGGGCCCCCACAGCCAACCAGCAAACTCTCAGGCTTCAGGACACTAGACAGGGCAGGAGGACCACCAGGAAATAACAATCCTTCTTTCTGGCACTCAAAGCCCTACTCAGCTTAGCCACTTTACGAATTGGCCTCACACTTGCACCCCATGTGCCCACAACCCTGCTACAACACCTTTGAGCTCTAACATCACTTTTCCCTCAGTCAGGAAGCCTACCCTGAGTGGGCTCTTCAGCCCAAATAGAATCCTAAGGCCTCCCTGCCAGCTTCTTTGCCCAAACCTTGCCCTGTAGCACCTTAAGATGCACATGCCTCTGAACCTAATGTGACCAGAATAGCTGAGCTGAACTAGGGGGTCTCTTTCCAGGGGAGCCCATCACACCTTGGCACACACAGGGCACACCAGCTTCGACTTGTACTGCCCCTGAAATAGGTCCACGATGAAAGAGTCATTCCTCATCTTGTGCCGCTGCCATGCTTCCTCAGCTACCACCTGAGAGGCAGAGTGGTGAGAACCAAAGAGTACCAGGGGCTGGGATGCTCATGAGACATGCCCACCCTCTGTCCCTAACCCTGACCTCATCGGGCCGCCCATCTGAATCCACGGTCTCTGTGTAGGGCTTGTTCTGAATGCGATTCAGGTCCTCGTGCAGCCCATCCAGCAGGAAAGCCATGAACTCCTGGGCATCATGCTGTGCATAGCCTGTGAACTGGCTGGCCTTACTCGCCACAATGGCCTGGATACAGGAGCCAAGGTGTGAACATGAAGCCCTAGCACCCACTGCACACCCAGCTGGCTGGCCCTCCCCGCCCCCTCCAGCCAAGGGTGACAGTGGTCACAGATCACCTTCAACTTGGAAGGCTGGAAGGCATGGTGGGTGCCCTTCCACAGCGCCCGAAGCAGCACGGCAAAGCCAATGGCCAGACGCCCACCAGTCCCTAGTGGGTTGTTGTAGTTGATCTCAGCCTCAAAGGAGCGGTCTAGGAATAGTAGCCGAGCAAAGGTGTGAGGAACAAAGGCACTCTCTCTGCCCATAACCCAGGCTCCAGGCCCTGCCCTCACCATGGAAGAAGTCCCGGAGTTCCCGAGTGTTGGACAGAGACTGAATGACGCTGTTCATGAAGCAGGTGTTGCCTAAATTGACAAGGCCAGTGAAGCCTGGCAGACACACCTTCTTCTCTTCCTCTTCCTCCTCCTCCACGCTGTCTCCACTAACTGGGCTGTGGGGCATGGGAGGCACCATGCATGTAGGCTTGGGCTGCAGGAGCAAAGACGACATGAGAGAACAGCCCCAAGACTCTCCAGCCTCCATTCTTCGTCCTTCCCACCCCAGAATTCTCACCGAGGCCAGGTGTGTCTCTGGCTTTGGGGTTACATGCTCCATGGGTGTGCGGGTTGCCACACTGTCTAGCCCTGTGTCCTCAGATCGTGCCTTGGATTTATCCTTCTCCACAGCCCGGGCCTCCTCCTGGCCTGTCAGGGGGTGGGGAGCACCTCCTGGTGGGGTTGAATCCAGAGGGGTTGGACCTGTCGGCACGGCAACCTTTGCACCACCCACTGCACCTTAAAAAGGGGGAATGAGAGGGCTGGTGGTTAGCAGCATGTGACAGGGGTTTGGGTCCTGGTCACGTGGAACTGGGCAATGAAGGGAGCTCGTGTGCAGACCTCGTGCAGCCGGGGCCTCCAGGCCCCCCCAGCGCTGACTCTGCCTCTTACGAAGGCAGATGTCGATGCGAGAAGCCGTGAAACAGAAGGTGCACTGCTCTGGCTCAATCAGATTCCTGTGGGAAAAGGCTGAACTCAGGGACTTAGGAGGAATGAGCATCAGGATAGATGAGCCAGGGAGATGGAGCCCACGGGGTAGGACAGGCACAGTGGTGGGGCCGGGCACCACCCACCTGAGCTTCACCTGCCAACGGAAGGTGGTGTGGGGCCCACAGCCCGGGTGCAGCCTCAGGAAGTTTCCATCCCTGCAGAGGCACAGCAGGATAGGAGGAAGGACAAGAGGAAGAGCATGAGACATACTGTCCCACCTGAGGCATTGTTTGCCCCATCATCTACCCACCCACCTGGTCTGGAAGATGAGCGTGAAGTCCTGCTCACGGAAAAGTACTCTTGAGGTGTCCCTGCAGATCTCCTTCACGTACACGTGCACCACCACTGAATCCGGGCCCTTCTCATACGAGTCATTCTTGACAAACGCCAGGTTCACCATCGACTCGGGCTCTATATTGAGACCATGGCTCAGCCCCAACCAGGACAGGTTCCAGCCTATTGCTACTCTCTATCCACCTACAAACTTTGCAACCCAACCTAGGGCTCTGCCTGCCCACCCCCACCTTTACCATCCACCAAGGTTGCAGCATCTGCTGCCACTGCCATCTCCTCCTTGGCACAGTCATCTTTCCCAGGGTTTCTGCTCCGGACCATGGCTGGAGAGACTGGGTCATTCCCGGGAGGCACTGCTTTCTCTCCTGCCAAAGGGGCTAAATTCTCCTCTGAGCCCAGGAGGCAGGTTTGGGAGTTCAGCGGTGGTATGCAAAGCTGTTCATCAGCCTCAACCTATTAATGGCAAGATTGTGGAAAGAATCAGCCCTGGGTCTGCCAGGTGGCTCCCACTCCAGTGCACACCCTTTCCCCCCATCTCCTAACACCCAAACAGGTGCCCAGCTCTCACCTGGGTGGCTGGGTCAGCCACGAAGGGTGGGGCATCACCCCGGGGTCCAGGGTCATCCCTGGACCCGTCCCCCTCTGGCCCTCTGCAGAGATGCACAGCCCTCTTGGCGCTGGGCCCTGCCTGGGCCCCGGGGCCAGCCCCTGCGCCTACCTCACCACGGCCCTGGGCCCGCTTCTGGTTCCGGGCCTCCTGCTTAGCCCGGTGGGGCTCAGGGCCTGGCTCCAGGGCAATGGGAGACAGTTCCTGCCCATTCTCCTGGCACCGCAGCCCCGGCACCAGCTCCTGGGTCCCTAGAGGTTTCTTCTGCCAAAGATACAGCAGTCAGGCCCTGTCGACTACACTGGTATCCCTACCCAACCCTGTACTACTAGAACTCACCAGGAGGGAGGGCCACGTGAGCATAGGCACCTTTTTGGGCAGTGTCAGGTGCAGGAGACTGCCCTTGCGGGTTTGCACTTTAGCACAAGAGCTTTTTATCTCAGCATAGAAGACACCACCCCACTGCTGACCACCTGGGGACAGAGCAGGGTCCATGAGGTAGGATAGGAGATATCAGAAGATTCAAACATACTACTGTGCTCAGGGCAGATGGACACACCTGCAAACCGCACCACACAGTCTGTATCTGTGAAAGCAGCATCTACATCCTCCAGCTGCAGGGGACCTACTCCCACACGAAGCTTGACAATCACCTCTTCTGCACTCTGCCTCCAATCGAGCAACAACTCTGGAGTGGGAGTAGCCA
|
TTGCCTCAGCCTCCCAAGTAGCTGGGACTATAACACGTACCACCATGCCCAGCTAATTTTATTTCTTGTAGAGACAGTGTTTCACCAAGTTGCCCAGGCTGGTCCCAAACTCCTGGGCTCAAGTGATCTGCCCACCTCGGCCTCACAAAGTGCTGGGACTACAGGCATGAGCCACTGTGCCCAGCCCATGTGTATGTCTGTAGATGCCAATGACTGTACACACGTCTGTGGTGAGTACACACACACATCCACACATGTGATAGCCCAAGGAAGGACAAAGATACCTCCGCCAAACGCAGGTTCTCAGGCTTCACATGAACACTCTGAGAGAGGGAGTCCAATACTTCGCTCGCAGTGGAGTTCTCCTTGCTGACGCTCACCAGGAACTGTGGCAAAAAGGGCAGTCAGTGAGGGAGGTGGGCCACGTTCTCTAGAACAGCCCAGAGGGTAGGGGCTTACTCCTCACCTTGATGGGCTTGCTGTGGGGCTCTCGGGCAAAATAAAAGACAGGGAGAACCTTTTGCTTTTGTGGCAAGGGCACCGGCAGATAAAGAAACGGGTCAAAAGTGATGGAGACCTGTGGATGTAGAGGTGGCACTGGGTAGCTGCACACAGAGTGGGAGATAAGATGCTCATGCTCAGAGAGCCCATTCCGGGGCTTCTGATGGCTCTCAGGGCCCCCACAGCCAACCAGCAAACTCTCAGGCTTCAGGACACTAGACAGGGCAGGAGGACCACCAGGAAATAACAATCCTTCTTTCTGGCACTCAAAGCCCTACTCAGCTTAGCCACTTTACGAATTGGCCTCACACTTGCACCCCATGTGCCCACAACCCTGCTACAACACCTTTGAGCTCTAACATCACTTTTCCCTCAGTCAGGAAGCCTACCCTGAGTGGGCTCTTCAGCCCAAATAGAATCCTAAGGCCTCCCTGCCAGCTTCTTTGCCCAAACCTTGCCCTGTAGCACCTTAAGATGCACATGCCTCTGAACCTAATGTGACCAGAATAGCTGAGCTGAACTAGGGGGTCTCTTTCCAGGGGAGCCCATCACACCTTGGCACACACAGGGCACACCAGCTTCGACTTGTACTGCCCCTGAAATAGGTCCACGATGAAAGAGTCATTCCTCATCTTGTGCCGCTGCCATGCTTCCTCAGCTACCACCTGAGAGGCAGAGTGGTGAGAACCAAAGAGTACCAGGGGCTGGGATGCTCATGAGACATGCCCACCCTCTGTCCCTAACCCTGACCTCATCGGGCCGCCCATCTGAATCCACGGTCTCTGTGTAGGGCTTGTTCTGAATGCGATTCAGGTCCTCGTGCAGCCCATCCAGCAGGAAAGCCATGAACTCCTGGGCATCATGCTGTGCATAGCCTGTGAACTGGCTGGCCTTACTCGCCACAATGGCCTGGATACAGGAGCCAAGGTGTGAACATGAAGCCCTAGCACCCACTGCACACCCAGCTGGCTGGCCCTCCCCGCCCCCTCCAGCCAAGGGTGACAGTGGTCACAGATCACCTTCAACTTGGAAGGCTGGAAGGCATGGTGGGTGCCCTTCCACAGCGCCCGAAGCAGCACGGCAAAGCCAATGGCCAGACGCCCACCAGTCCCTAGTGGGTTGTTGTAGTTGATCTCAGCCTCAAAGGAGCGGTCTAGGAATAGTAGCCGAGCAAAGGTGTGAGGAACAAAGGCACTCTCTCTGCCCATAACCCAGGCTCCAGGCCCTGCCCTCACCATGGAAGAAGTCCCGGAGTTCCCGAGTGTTGGACAGAGACTGAATGACGCTGTTCATGAAGCAGGTGTTGCCTAAATTGACAAGGCCAGTGAAGCCTGGCAGACACACCTTCTTCTCTTCCTCTTCCTCCTCCTCCACGCTGTCTCCACTAACTGGGCTGTGGGGCATGGGAGGCACCATGCATGTAGGCTTGGGCTGCAGGAGCAAAGACGACATGAGAGAACAGCCCCAAGACTCTCCAGCCTCCATTCTTCGTCCTTCCCACCCCAGAATTCTCACCGAGGCCAGGTGTGTCTCTGGCTTTGGGGTTAAATGCTCCATGGGTGTGCGGGTTGCCACACTGTCTAGCCCTGTGTCCTCAGATCGTGCCTTGGATTTATCCTTCTCCACAGCCCGGGCCTCCTCCTGGCCTGTCAGGGGGTGGGGAGCACCTCCTGGTGGGGTTGAATCCAGAGGGGTTGGACCTGTCGGCACGGCAACCTTTGCACCACCCACTGCACCTTAAAAAGGGGGAATGAGAGGGCTGGTGGTTAGCAGCATGTGACAGGGGTTTGGGTCCTGGTCACGTGGAACTGGGCAATGAAGGGAGCTCGTGTGCAGACCTCGTGCAGCCGGGGCCTCCAGGCCCCCCCAGCGCTGACTCTGCCTCTTACGAAGGCAGATGTCGATGCGAGAAGCCGTGAAACAGAAGGTGCACTGCTCTGGCTCAATCAGATTCCTGTGGGAAAAGGCTGAACTCAGGGACTTAGGAGGAATGAGCATCAGGATAGATGAGCCAGGGAGATGGAGCCCACGGGGTAGGACAGGCACAGTGGTGGGGCCGGGCACCACCCACCTGAGCTTCACCTGCCAACGGAAGGTGGTGTGGGGCCCACAGCCCGGGTGCAGCCTCAGGAAGTTTCCATCCCTGCAGAGGCACAGCAGGATAGGAGGAAGGACAAGAGGAAGAGCATGAGACATACTGTCCCACCTGAGGCATTGTTTGCCCCATCATCTACCCACCCACCTGGTCTGGAAGATGAGCGTGAAGTCCTGCTCACGGAAAAGTACTCTTGAGGTGTCCCTGCAGATCTCCTTCACGTACACGTGCACCACCACTGAATCCGGGCCCTTCTCATACGAGTCATTCTTGACAAACGCCAGGTTCACCATCGACTCGGGCTCTATATTGAGACCATGGCTCAGCCCCAACCAGGACAGGTTCCAGCCTATTGCTACTCTCTATCCACCTACAAACTTTGCAACCCAACCTAGGGCTCTGCCTGCCCACCCCCACCTTTACCATCCACCAAGGTTGCAGCATCTGCTGCCACTGCCATCTCCTCCTTGGCACAGTCATCTTTCCCAGGGTTTCTGCTCCGGACCATGGCTGGAGAGACTGGGTCATTCCCGGGAGGCACTGCTTTCTCTCCTGCCAAAGGGGCTAAATTCTCCTCTGAGCCCAGGAGGCAGGTTTGGGAGTTCAGCGGTGGTATGCAAAGCTGTTCATCAGCCTCAACCTATTAATGGCAAGATTGTGGAAAGAATCAGCCCTGGGTCTGCCAGGTGGCTCCCACTCCAGTGCACACCCTTTCCCCCCATCTCCTAACACCCAAACAGGTGCCCAGCTCTCACCTGGGTGGCTGGGTCAGCCACGAAGGGTGGGGCATCACCCCGGGGTCCAGGGTCATCCCTGGACCCGTCCCCCTCTGGCCCTCTGCAGAGATGCACAGCCCTCTTGGCGCTGGGCCCTGCCTGGGCCCCGGGGCCAGCCCCTGCGCCTACCTCACCACGGCCCTGGGCCCGCTTCTGGTTCCGGGCCTCCTGCTTAGCCCGGTGGGGCTCAGGGCCTGGCTCCAGGGCAATGGGAGACAGTTCCTGCCCATTCTCCTGGCACCGCAGCCCCGGCACCAGCTCCTGGGTCCCTAGAGGTTTCTTCTGCCAAAGATACAGCAGTCAGGCCCTGTCGACTACACTGGTATCCCTACCCAACCCTGTACTACTAGAACTCACCAGGAGGGAGGGCCACGTGAGCATAGGCACCTTTTTGGGCAGTGTCAGGTGCAGGAGACTGCCCTTGCGGGTTTGCACTTTAGCACAAGAGCTTTTTATCTCAGCATAGAAGACACCACCCCACTGCTGACCACCTGGGGACAGAGCAGGGTCCATGAGGTAGGATAGGAGATATCAGAAGATTCAAACATACTACTGTGCTCAGGGCAGATGGACACACCTGCAAACCGCACCACACAGTCTGTATCTGTGAAAGCAGCATCTACATCCTCCAGCTGCAGGGGACCTACTCCCACACGAAGCTTGACAATCACCTCTTCTGCACTCTGCCTCCAATCGAGCAACAACTCTGGAGTGGGAGTAGCCA
|
Task1_train_7001
|
Here’s a variant in USP19 (ubiquitin specific peptidase 19) located on Chromosome 3. What is the predicted biological effect — harmless or disease-causing?
|
Pathogenic; Epileptic encephalopathy
|
GTTGCCCAGGCTGGTCCCAAACTCCTGGGCTCAAGTGATCTGCCCACCTCGGCCTCACAAAGTGCTGGGACTACAGGCATGAGCCACTGTGCCCAGCCCATGTGTATGTCTGTAGATGCCAATGACTGTACACACGTCTGTGGTGAGTACACACACACATCCACACATGTGATAGCCCAAGGAAGGACAAAGATACCTCCGCCAAACGCAGGTTCTCAGGCTTCACATGAACACTCTGAGAGAGGGAGTCCAATACTTCGCTCGCAGTGGAGTTCTCCTTGCTGACGCTCACCAGGAACTGTGGCAAAAAGGGCAGTCAGTGAGGGAGGTGGGCCACGTTCTCTAGAACAGCCCAGAGGGTAGGGGCTTACTCCTCACCTTGATGGGCTTGCTGTGGGGCTCTCGGGCAAAATAAAAGACAGGGAGAACCTTTTGCTTTTGTGGCAAGGGCACCGGCAGATAAAGAAACGGGTCAAAAGTGATGGAGACCTGTGGATGTAGAGGTGGCACTGGGTAGCTGCACACAGAGTGGGAGATAAGATGCTCATGCTCAGAGAGCCCATTCCGGGGCTTCTGATGGCTCTCAGGGCCCCCACAGCCAACCAGCAAACTCTCAGGCTTCAGGACACTAGACAGGGCAGGAGGACCACCAGGAAATAACAATCCTTCTTTCTGGCACTCAAAGCCCTACTCAGCTTAGCCACTTTACGAATTGGCCTCACACTTGCACCCCATGTGCCCACAACCCTGCTACAACACCTTTGAGCTCTAACATCACTTTTCCCTCAGTCAGGAAGCCTACCCTGAGTGGGCTCTTCAGCCCAAATAGAATCCTAAGGCCTCCCTGCCAGCTTCTTTGCCCAAACCTTGCCCTGTAGCACCTTAAGATGCACATGCCTCTGAACCTAATGTGACCAGAATAGCTGAGCTGAACTAGGGGGTCTCTTTCCAGGGGAGCCCATCACACCTTGGCACACACAGGGCACACCAGCTTCGACTTGTACTGCCCCTGAAATAGGTCCACGATGAAAGAGTCATTCCTCATCTTGTGCCGCTGCCATGCTTCCTCAGCTACCACCTGAGAGGCAGAGTGGTGAGAACCAAAGAGTACCAGGGGCTGGGATGCTCATGAGACATGCCCACCCTCTGTCCCTAACCCTGACCTCATCGGGCCGCCCATCTGAATCCACGGTCTCTGTGTAGGGCTTGTTCTGAATGCGATTCAGGTCCTCGTGCAGCCCATCCAGCAGGAAAGCCATGAACTCCTGGGCATCATGCTGTGCATAGCCTGTGAACTGGCTGGCCTTACTCGCCACAATGGCCTGGATACAGGAGCCAAGGTGTGAACATGAAGCCCTAGCACCCACTGCACACCCAGCTGGCTGGCCCTCCCCGCCCCCTCCAGCCAAGGGTGACAGTGGTCACAGATCACCTTCAACTTGGAAGGCTGGAAGGCATGGTGGGTGCCCTTCCACAGCGCCCGAAGCAGCACGGCAAAGCCAATGGCCAGACGCCCACCAGTCCCTAGTGGGTTGTTGTAGTTGATCTCAGCCTCAAAGGAGCGGTCTAGGAATAGTAGCCGAGCAAAGGTGTGAGGAACAAAGGCACTCTCTCTGCCCATAACCCAGGCTCCAGGCCCTGCCCTCACCATGGAAGAAGTCCCGGAGTTCCCGAGTGTTGGACAGAGACTGAATGACGCTGTTCATGAAGCAGGTGTTGCCTAAATTGACAAGGCCAGTGAAGCCTGGCAGACACACCTTCTTCTCTTCCTCTTCCTCCTCCTCCACGCTGTCTCCACTAACTGGGCTGTGGGGCATGGGAGGCACCATGCATGTAGGCTTGGGCTGCAGGAGCAAAGACGACATGAGAGAACAGCCCCAAGACTCTCCAGCCTCCATTCTTCGTCCTTCCCACCCCAGAATTCTCACCGAGGCCAGGTGTGTCTCTGGCTTTGGGGTTACATGCTCCATGGGTGTGCGGGTTGCCACACTGTCTAGCCCTGTGTCCTCAGATCGTGCCTTGGATTTATCCTTCTCCACAGCCCGGGCCTCCTCCTGGCCTGTCAGGGGGTGGGGAGCACCTCCTGGTGGGGTTGAATCCAGAGGGGTTGGACCTGTCGGCACGGCAACCTTTGCACCACCCACTGCACCTTAAAAAGGGGGAATGAGAGGGCTGGTGGTTAGCAGCATGTGACAGGGGTTTGGGTCCTGGTCACGTGGAACTGGGCAATGAAGGGAGCTCGTGTGCAGACCTCGTGCAGCCGGGGCCTCCAGGCCCCCCCAGCGCTGACTCTGCCTCTTACGAAGGCAGATGTCGATGCGAGAAGCCGTGAAACAGAAGGTGCACTGCTCTGGCTCAATCAGATTCCTGTGGGAAAAGGCTGAACTCAGGGACTTAGGAGGAATGAGCATCAGGATAGATGAGCCAGGGAGATGGAGCCCACGGGGTAGGACAGGCACAGTGGTGGGGCCGGGCACCACCCACCTGAGCTTCACCTGCCAACGGAAGGTGGTGTGGGGCCCACAGCCCGGGTGCAGCCTCAGGAAGTTTCCATCCCTGCAGAGGCACAGCAGGATAGGAGGAAGGACAAGAGGAAGAGCATGAGACATACTGTCCCACCTGAGGCATTGTTTGCCCCATCATCTACCCACCCACCTGGTCTGGAAGATGAGCGTGAAGTCCTGCTCACGGAAAAGTACTCTTGAGGTGTCCCTGCAGATCTCCTTCACGTACACGTGCACCACCACTGAATCCGGGCCCTTCTCATACGAGTCATTCTTGACAAACGCCAGGTTCACCATCGACTCGGGCTCTATATTGAGACCATGGCTCAGCCCCAACCAGGACAGGTTCCAGCCTATTGCTACTCTCTATCCACCTACAAACTTTGCAACCCAACCTAGGGCTCTGCCTGCCCACCCCCACCTTTACCATCCACCAAGGTTGCAGCATCTGCTGCCACTGCCATCTCCTCCTTGGCACAGTCATCTTTCCCAGGGTTTCTGCTCCGGACCATGGCTGGAGAGACTGGGTCATTCCCGGGAGGCACTGCTTTCTCTCCTGCCAAAGGGGCTAAATTCTCCTCTGAGCCCAGGAGGCAGGTTTGGGAGTTCAGCGGTGGTATGCAAAGCTGTTCATCAGCCTCAACCTATTAATGGCAAGATTGTGGAAAGAATCAGCCCTGGGTCTGCCAGGTGGCTCCCACTCCAGTGCACACCCTTTCCCCCCATCTCCTAACACCCAAACAGGTGCCCAGCTCTCACCTGGGTGGCTGGGTCAGCCACGAAGGGTGGGGCATCACCCCGGGGTCCAGGGTCATCCCTGGACCCGTCCCCCTCTGGCCCTCTGCAGAGATGCACAGCCCTCTTGGCGCTGGGCCCTGCCTGGGCCCCGGGGCCAGCCCCTGCGCCTACCTCACCACGGCCCTGGGCCCGCTTCTGGTTCCGGGCCTCCTGCTTAGCCCGGTGGGGCTCAGGGCCTGGCTCCAGGGCAATGGGAGACAGTTCCTGCCCATTCTCCTGGCACCGCAGCCCCGGCACCAGCTCCTGGGTCCCTAGAGGTTTCTTCTGCCAAAGATACAGCAGTCAGGCCCTGTCGACTACACTGGTATCCCTACCCAACCCTGTACTACTAGAACTCACCAGGAGGGAGGGCCACGTGAGCATAGGCACCTTTTTGGGCAGTGTCAGGTGCAGGAGACTGCCCTTGCGGGTTTGCACTTTAGCACAAGAGCTTTTTATCTCAGCATAGAAGACACCACCCCACTGCTGACCACCTGGGGACAGAGCAGGGTCCATGAGGTAGGATAGGAGATATCAGAAGATTCAAACATACTACTGTGCTCAGGGCAGATGGACACACCTGCAAACCGCACCACACAGTCTGTATCTGTGAAAGCAGCATCTACATCCTCCAGCTGCAGGGGACCTACTCCCACACGAAGCTTGACAATCACCTCTTCTGCACTCTGCCTCCAATCGAGCAACAACTCTGGAGTGGGAGTAGCCAAGAGATCATGAGGGTCTTCACAAGCTCCTGATGGTGATAAGCAGGTAACAGAGACCCAGCCTAATGAAACTGCTTCAGATGGGAGCCA
|
GTTGCCCAGGCTGGTCCCAAACTCCTGGGCTCAAGTGATCTGCCCACCTCGGCCTCACAAAGTGCTGGGACTACAGGCATGAGCCACTGTGCCCAGCCCATGTGTATGTCTGTAGATGCCAATGACTGTACACACGTCTGTGGTGAGTACACACACACATCCACACATGTGATAGCCCAAGGAAGGACAAAGATACCTCCGCCAAACGCAGGTTCTCAGGCTTCACATGAACACTCTGAGAGAGGGAGTCCAATACTTCGCTCGCAGTGGAGTTCTCCTTGCTGACGCTCACCAGGAACTGTGGCAAAAAGGGCAGTCAGTGAGGGAGGTGGGCCACGTTCTCTAGAACAGCCCAGAGGGTAGGGGCTTACTCCTCACCTTGATGGGCTTGCTGTGGGGCTCTCGGGCAAAATAAAAGACAGGGAGAACCTTTTGCTTTTGTGGCAAGGGCACCGGCAGATAAAGAAACGGGTCAAAAGTGATGGAGACCTGTGGATGTAGAGGTGGCACTGGGTAGCTGCACACAGAGTGGGAGATAAGATGCTCATGCTCAGAGAGCCCATTCCGGGGCTTCTGATGGCTCTCAGGGCCCCCACAGCCAACCAGCAAACTCTCAGGCTTCAGGACACTAGACAGGGCAGGAGGACCACCAGGAAATAACAATCCTTCTTTCTGGCACTCAAAGCCCTACTCAGCTTAGCCACTTTACGAATTGGCCTCACACTTGCACCCCATGTGCCCACAACCCTGCTACAACACCTTTGAGCTCTAACATCACTTTTCCCTCAGTCAGGAAGCCTACCCTGAGTGGGCTCTTCAGCCCAAATAGAATCCTAAGGCCTCCCTGCCAGCTTCTTTGCCCAAACCTTGCCCTGTAGCACCTTAAGATGCACATGCCTCTGAACCTAATGTGACCAGAATAGCTGAGCTGAACTAGGGGGTCTCTTTCCAGGGGAGCCCATCACACCTTGGCACACACAGGGCACACCAGCTTCGACTTGTACTGCCCCTGAAATAGGTCCACGATGAAAGAGTCATTCCTCATCTTGTGCCGCTGCCATGCTTCCTCAGCTACCACCTGAGAGGCAGAGTGGTGAGAACCAAAGAGTACCAGGGGCTGGGATGCTCATGAGACATGCCCACCCTCTGTCCCTAACCCTGACCTCATCGGGCCGCCCATCTGAATCCACGGTCTCTGTGTAGGGCTTGTTCTGAATGCGATTCAGGTCCTCGTGCAGCCCATCCAGCAGGAAAGCCATGAACTCCTGGGCATCATGCTGTGCATAGCCTGTGAACTGGCTGGCCTTACTCGCCACAATGGCCTGGATACAGGAGCCAAGGTGTGAACATGAAGCCCTAGCACCCACTGCACACCCAGCTGGCTGGCCCTCCCCGCCCCCTCCAGCCAAGGGTGACAGTGGTCACAGATCACCTTCAACTTGGAAGGCTGGAAGGCATGGTGGGTGCCCTTCCACAGCGCCCGAAGCAGCACGGCAAAGCCAATGGCCAGACGCCCACCAGTCCCTAGTGGGTTGTTGTAGTTGATCTCAGCCTCAAAGGAGCGGTCTAGGAATAGTAGCCGAGCAAAGGTGTGAGGAACAAAGGCACTCTCTCTGCCCATAACCCAGGCTCCAGGCCCTGCCCTCACCATGGAAGAAGTCCCGGAGTTCCCGAGTGTTGGACAGAGACTGAATGACGCTGTTCATGAAGCAGGTGTTGCCTAAATTGACAAGGCCAGTGAAGCCTGGCAGACACACCTTCTTCTCTTCCTCTTCCTCCTCCTCCACGCTGTCTCCACTAACTGGGCTGTGGGGCATGGGAGGCACCATGCATGTAGGCTTGGGCTGCAGGAGCAAAGACGACATGAGAGAACAGCCCCAAGACTCTCCAGCCTCCATTCTTCGTCCTTCCCACCCCAGAATTCTCACCGAGGCCAGGTGTGTCTCTGGCTTTGGGGTTACATGCTCCATGGGTGTGCGGGTTGCCACACTGTCTAGCCCTGTGTCCTCAGATCGTGCCTTGGATTTATCCTTCTCCACAGCCCGGGCATCCTCCTGGCCTGTCAGGGGGTGGGGAGCACCTCCTGGTGGGGTTGAATCCAGAGGGGTTGGACCTGTCGGCACGGCAACCTTTGCACCACCCACTGCACCTTAAAAAGGGGGAATGAGAGGGCTGGTGGTTAGCAGCATGTGACAGGGGTTTGGGTCCTGGTCACGTGGAACTGGGCAATGAAGGGAGCTCGTGTGCAGACCTCGTGCAGCCGGGGCCTCCAGGCCCCCCCAGCGCTGACTCTGCCTCTTACGAAGGCAGATGTCGATGCGAGAAGCCGTGAAACAGAAGGTGCACTGCTCTGGCTCAATCAGATTCCTGTGGGAAAAGGCTGAACTCAGGGACTTAGGAGGAATGAGCATCAGGATAGATGAGCCAGGGAGATGGAGCCCACGGGGTAGGACAGGCACAGTGGTGGGGCCGGGCACCACCCACCTGAGCTTCACCTGCCAACGGAAGGTGGTGTGGGGCCCACAGCCCGGGTGCAGCCTCAGGAAGTTTCCATCCCTGCAGAGGCACAGCAGGATAGGAGGAAGGACAAGAGGAAGAGCATGAGACATACTGTCCCACCTGAGGCATTGTTTGCCCCATCATCTACCCACCCACCTGGTCTGGAAGATGAGCGTGAAGTCCTGCTCACGGAAAAGTACTCTTGAGGTGTCCCTGCAGATCTCCTTCACGTACACGTGCACCACCACTGAATCCGGGCCCTTCTCATACGAGTCATTCTTGACAAACGCCAGGTTCACCATCGACTCGGGCTCTATATTGAGACCATGGCTCAGCCCCAACCAGGACAGGTTCCAGCCTATTGCTACTCTCTATCCACCTACAAACTTTGCAACCCAACCTAGGGCTCTGCCTGCCCACCCCCACCTTTACCATCCACCAAGGTTGCAGCATCTGCTGCCACTGCCATCTCCTCCTTGGCACAGTCATCTTTCCCAGGGTTTCTGCTCCGGACCATGGCTGGAGAGACTGGGTCATTCCCGGGAGGCACTGCTTTCTCTCCTGCCAAAGGGGCTAAATTCTCCTCTGAGCCCAGGAGGCAGGTTTGGGAGTTCAGCGGTGGTATGCAAAGCTGTTCATCAGCCTCAACCTATTAATGGCAAGATTGTGGAAAGAATCAGCCCTGGGTCTGCCAGGTGGCTCCCACTCCAGTGCACACCCTTTCCCCCCATCTCCTAACACCCAAACAGGTGCCCAGCTCTCACCTGGGTGGCTGGGTCAGCCACGAAGGGTGGGGCATCACCCCGGGGTCCAGGGTCATCCCTGGACCCGTCCCCCTCTGGCCCTCTGCAGAGATGCACAGCCCTCTTGGCGCTGGGCCCTGCCTGGGCCCCGGGGCCAGCCCCTGCGCCTACCTCACCACGGCCCTGGGCCCGCTTCTGGTTCCGGGCCTCCTGCTTAGCCCGGTGGGGCTCAGGGCCTGGCTCCAGGGCAATGGGAGACAGTTCCTGCCCATTCTCCTGGCACCGCAGCCCCGGCACCAGCTCCTGGGTCCCTAGAGGTTTCTTCTGCCAAAGATACAGCAGTCAGGCCCTGTCGACTACACTGGTATCCCTACCCAACCCTGTACTACTAGAACTCACCAGGAGGGAGGGCCACGTGAGCATAGGCACCTTTTTGGGCAGTGTCAGGTGCAGGAGACTGCCCTTGCGGGTTTGCACTTTAGCACAAGAGCTTTTTATCTCAGCATAGAAGACACCACCCCACTGCTGACCACCTGGGGACAGAGCAGGGTCCATGAGGTAGGATAGGAGATATCAGAAGATTCAAACATACTACTGTGCTCAGGGCAGATGGACACACCTGCAAACCGCACCACACAGTCTGTATCTGTGAAAGCAGCATCTACATCCTCCAGCTGCAGGGGACCTACTCCCACACGAAGCTTGACAATCACCTCTTCTGCACTCTGCCTCCAATCGAGCAACAACTCTGGAGTGGGAGTAGCCAAGAGATCATGAGGGTCTTCACAAGCTCCTGATGGTGATAAGCAGGTAACAGAGACCCAGCCTAATGAAACTGCTTCAGATGGGAGCCA
|
Task1_train_7002
|
A variant was discovered on Chromosome 3, affecting LAMB2 (laminin subunit beta 2). What is its functional impact — neutral or pathogenic? State the disease if pathogenic.
|
Pathogenic; LAMB2-related infantile-onset nephrotic syndrome
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GTCCAGGATGGAGTTTCCCCGGGGGTCACCAGGCGCTCCACCACATCGAGCACCTGGGAGATAATGCAGCCAGGGATGGAGGCTCAGGTGAGGCTTTGCCTCTTCTGCCACAGCCAGCCCCAAACCCCATTTCTCCTGCCAAAGCTAGATATCACCCCTATCCCCTCAACAAGGTACTGCCCATAACCCCACCTCTCCAGTCATAGACGTGTCCACCCACATCCAGCCCTCTGCTTAGGGGGAGGCCCCACACCTGCCCTCGGGTGTCCTCAGCCTCCCAAATTAGGTGGTCCAGGAAGGGCCGGAAGTAGCCAGGTTGCACCTGCTCACAGCGTCGCCCAACCATGTGCTGGCGGCAGTGGCATTGACCTGTGCCCTCATCACACCTGGAGGGAACTCTGTGGTTACTCAAGAAGAACCTTCTCTTCTGCTCAGGATCTTTCCCCATCCCTTCCCAGGCCCCCTTTACAACACTTACTGGGGATCCAAAGCACCACCCACGTCGCAGTCACAGGGGCGGCAGCCGAGCAGGTCGTGGCTCAGGCCCCAGTGGCCAGGCTGCACGAAAGGAGTTGCTGGGGGCCAGAAACAGACCTCCAGACCCCATCACCACCCAGCAGGAAATCCCAACCACACGTCTTAGCCTCAATCACCCCTCAGTGAAAACATGCCCCCCAGACCACTGGCCCACATCCTTGGCCTCCCAGACCTGAGGCTTCTCAGCCAGGACTGGATCCTAAGCTCTCAGCACCCACCCACTGGCATAGATGTGACACCCCAGCCCTGTGCTCTAAGGACAAATCATGCCCCTAGAACTCCAGCCCCTTCCAGTCGCACCAGGCAGCGGTCACATCCACGTCCAGTCACTAGACGTTTGCAGTAACAGGATCCACTGTTGGGGTCACAAGGAGTGCTCCCAGGCACTGTGCCCCGTGCATTACATTGACATCCTGCAGGGAAGGAGAACCATCAGCACTTTGGGAAACTGTGGCAGTGCTCATGTTCAGCTGAGTCAGGAGTAAGAGGACAGGGGTTAAAGGTCAGCATAGAAGTTAGGGCAGGAGACACATACGCCGGCAGCCCAGACGGTCACTGATGCTGAGCCCAAAGAAGCCATCACGGCATTGCTGGCAGCGAGTGCCCACCACATGTTCTTTGCAGCGACACTGGCCGGAGACCAGTCCCAGTGCAGGGTCATCATGGGAATCACAGCGACCACCGTCTTGAGAACCCATGGGGTCACAATCACAGGCTGACGGCAAAAAGAGATACAGGGTCACTCACCCTATCTCAACTAGCTCACTGCCAGTCCTCTCCTAAGCCTAAGGGATCCCACCCTGGATCCCTGGTCAAGTTCTATCCCAAGCCCCTAACCCCAATTTCCTGCAATTTAGACAGCAGTCCAGCTCTCTAGTTCCTGCCCCAGGCTCAGCTTTCTCTCCCCGTGCCCAATCCCAGCCTCACAGCGGCACACAGCCGGATCCCGCAGGTCCTTGGTTGGGTCACGGTAGAAGAAGGGCCGACAGAGCTCACAGTGGCGCCCAGCTGTGTTATGCTGACATCCATCACACACACCTCCACTCACATTGCCAGATGCCAGGTATACGGCCATGTCGAAGTGGCAGCTGTGGGTGTGCCCATGGCACTCACACTCTGGCAGGGGAGGAAGGGCAGGGCAAAGGCCACATGAGGAACCAGGTCACAAGGGTAAGAAGTAGGCCACCTTAGATCCCTATCACAGGCCAGAATTTGTGGGTAGGGGCTCAGGGACTTCAAGGCCTCAGCATCATACTGGTTCCCTACCCAGAGCAGACTGCAGAGGAGGATTGAGGGGGTCCCAAGGGGCATCAAGGTCTGCATACTCTTTGGATACAGCCTGGGTTTTAGGGGCTTGACCAACTAGCTCTAGGTTCTACCCAGGGCACAGCCAGGCTGCAGAGTGCTGGAGCTATGGAGGCCAAGATCTCACTCACTCCTACAGGCATGACTATGGCCGTCCTCAGCCGGACGCCAGGGCAGGTCACGATAGAAATCCTGACACTGCTCGCAGTTGAGGCCACGTGTGTTGTGTTTGCAGATGCAAGCTCCGTGCACCTATAGAGGTTGGCAGGTAGGTTGTCAGCACTGCTCAGCCATGTCCGCCCCTGCCCCTAGCCCTATCCCAACCGTCTGAAGCCCCTTACCATGCCCTCAGCATGGGCTGGTGCCCCTGGGGCGGGTGCACACTCTGAGGCGTGTCCGTAGCAGAAGCAGTTGCCACGTACAACCAGCTCATAGAGGGCATAGTAGTACTTCTCTCGGATCTCCCTCCGTGGGTCGAGTAGGTTGTCTCCCAACGTGTGTAGACGAGTCAGGTTCACCCGTAGGTTGGTGATCTTCAACAGGTCTGAGGCGGGGGAAGGGGGGCCAACTGACCAGGCAGGCCCTTGCTGCCCCATGTCCACCCAGGGGCTCAGCTGCCAAGGTCACCTTGAAAGACCTCCTATACACTGCCACCCGAGCTAAACTGGGCTTGGCACCTGCCCTAGGAAGCACCCAAAATAGTTACTGAGGCCCCAAATAGTCCCTAGCCGGACACGGACTGTGCCAGACTCAAAGGGTGGAGCACTCACTCTGAATCCGTGAGCTGTAGGGGTCTGGGATAGGGATGGCAGGGTCCAGCACACGATAGATGACCTGGAGAAGCAGGGAGTTCATAGTCACACTGGACCTTGCCTCAGGCCCATCATCCCCAGCTTCCAGCCCCCAGCCCAGATGCCAGCCCTCACCTCGCCTTCAGTGGATGGCTCAATCTCTGAGTAGCGGGACTCACAGACTACATCATCCCAGTGCCGTGGGGGTGCTAGTGGGACTCCTGGGAAGTCAGCCCCACAGTCATAGGAGAAATATCGGTACACATGCCAGGTGCGGCCAAAGTCTGCTGAGCGTTCCACCAGCATGGCAGCAGGGCGAAATGTCTGGGTAGGGGGGCATAGCTGATCAGCAGGCACCAGGACCCAAGCCCAACCCAGAGCCATCAAGAGCCCTGCTCAGCCCAAGACTGCCCTCAAATAGCTCACAGAGAGTGGGGGTGACTGGTGGAAGCCAGATAATGACCAGCAAAGGTAGCCACCTCTAATGGGGAGACTCAGGGTTCATGGGGCTCAGGGAGACAGCGCCTGACCCAGCCTGGGATTGGAAAGGCAGAAGAGCATGTGCAAAGGCCTGGAGGCAAATGGAAGGTGTGAAGGGATGAAGGAGCCTCCTGCATCCATGCTCAAGGAGGCTGTGTTAAGGAGCTGAGGCTCTGTCCAGGGGCAATGGAGAGCCAAGCAGGGTGATTCGGGCAGGCTCCCAGATATGCAGGCACCTTGAAGGTCATAATGAGGTGTGTGAAATGAAACTCAGCCTCCAGGTCCAGCTGGATGGTGACCGCAGGGATACCTGGGACAGGAATCGGAAGTCAAGGACTCAAAGCTACTGGTGGGCAGCCCTGCTCACTTTTGCCCCACCCATGGCCTCACCATTCTCTGACTGCCACCAGGCTGCCCGCCGCTGTGGTGCAAAGCTGGTGACTACATTCTGGATGCGATGGCTGTGTGGGTTGTCTCTAGCAGAGAAGGGGCGCCGGGAGTCACAAAGGAAGCACTTCTTTTCGTCCTGGGTTGGATGGGGATTAGAATCAGTGCCTCAGGCAGTGCCAGCCCCACCCTGACTCGGCGTCACACCCTGTCCCCAGCCACACCTGCAGGTGACTGACGATGCAGTAGGGCTGGGGGCCATTCAGGCCACAAGTGGATGAGGCAGTCAGTCTGTCAGCTCGGCCCACCAGCAGGTCGCCCGTGGCGGGGTAGCAGCTTCCCCTGGAACAGCCAGGCACATCCGGGGCAGGGGCCTGTGCCAGTGTGGCAGCCAGCACTGGGGACAGTAGCTCAGTCAGTTCCGCTGAGTTCCTATCCAGTGGCTCCACCTCATGTGCCCCAAGGGCAACTACCAGGACCTACCATCACATTCCACAACCCCCAGCCCCCACCAGGCCCTCTCACCGCTTAGCAGTAGGCCCAGTCGAAGTTCCCAGGGCAGAGGCTGTCCCCTCCCTCTTTCCCTTGAGGTCAGC
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GTCCAGGATGGAGTTTCCCCGGGGGTCACCAGGCGCTCCACCACATCGAGCACCTGGGAGATAATGCAGCCAGGGATGGAGGCTCAGGTGAGGCTTTGCCTCTTCTGCCACAGCCAGCCCCAAACCCCATTTCTCCTGCCAAAGCTAGATATCACCCCTATCCCCTCAACAAGGTACTGCCCATAACCCCACCTCTCCAGTCATAGACGTGTCCACCCACATCCAGCCCTCTGCTTAGGGGGAGGCCCCACACCTGCCCTCGGGTGTCCTCAGCCTCCCAAATTAGGTGGTCCAGGAAGGGCCGGAAGTAGCCAGGTTGCACCTGCTCACAGCGTCGCCCAACCATGTGCTGGCGGCAGTGGCATTGACCTGTGCCCTCATCACACCTGGAGGGAACTCTGTGGTTACTCAAGAAGAACCTTCTCTTCTGCTCAGGATCTTTCCCCATCCCTTCCCAGGCCCCCTTTACAACACTTACTGGGGATCCAAAGCACCACCCACGTCGCAGTCACAGGGGCGGCAGCCGAGCAGGTCGTGGCTCAGGCCCCAGTGGCCAGGCTGCACGAAAGGAGTTGCTGGGGGCCAGAAACAGACCTCCAGACCCCATCACCACCCAGCAGGAAATCCCAACCACACGTCTTAGCCTCAATCACCCCTCAGTGAAAACATGCCCCCCAGACCACTGGCCCACATCCTTGGCCTCCCAGACCTGAGGCTTCTCAGCCAGGACTGGATCCTAAGCTCTCAGCACCCACCCACTGGCATAGATGTGACACCCCAGCCCTGTGCTCTAAGGACAAATCATGCCCCTAGAACTCCAGCCCCTTCCAGTCGCACCAGGCAGCGGTCACATCCACGTCCAGTCACTAGACGTTTGCAGTAACAGGATCCACTGTTGGGGTCACAAGGAGTGCTCCCAGGCACTGTGCCCCGTGCATTACATTGACATCCTGCAGGGAAGGAGAACCATCAGCACTTTGGGAAACTGTGGCAGTGCTCATGTTCAGCTGAGTCAGGAGTAAGAGGACAGGGGTTAAAGGTCAGCATAGAAGTTAGGGCAGGAGACACATACGCCGGCAGCCCAGACGGTCACTGATGCTGAGCCCAAAGAAGCCATCACGGCATTGCTGGCAGCGAGTGCCCACCACATGTTCTTTGCAGCGACACTGGCCGGAGACCAGTCCCAGTGCAGGGTCATCATGGGAATCACAGCGACCACCGTCTTGAGAACCCATGGGGTCACAATCACAGGCTGACGGCAAAAAGAGATACAGGGTCACTCACCCTATCTCAACTAGCTCACTGCCAGTCCTCTCCTAAGCCTAAGGGATCCCACCCTGGATCCCTGGTCAAGTTCTATCCCAAGCCCCTAACCCCAATTTCCTGCAATTTAGACAGCAGTCCAGCTCTCTAGTTCCTGCCCCAGGCTCAGCTTTCTCTCCCCGTGCCCAATCCCAGCCTCACAGCGGCACACAGCCGGATCCCGCAGGTCCTTGGTTGGGTCACGGTAGAAGAAGGGCCGACAGAGCTCACAGTGGCGCCCAGCTGTGTTATGCTGACATCCATCACACACACCTCCACTCACATTGCCAGATGCCAGGTATACGGCCATGTCGAAGTGGCAGCTGTGGGTGTGCCCATGGCACTCACACTCTGGCAGGGGAGGAAGGGCAGGGCAAAGGCCACATGAGGAACCAGGTCACAAGGGTAAGAAGTAGGCCACCTTAGATCCCTATCACAGGCCAGAATTTGTGGGTAGGGGCTCAGGGACTTCAAGGCCTCAGCATCATACTGGTTCCCTACCCAGAGCAGACTGCAGAGGAGGATTGAGGGGGTCCCAAGGGGCATCAAGGTCTGCATACTCTTTGGATACAGCCTGGGTTTTAGGGGCTTGACCAACTAGCTCTAGGTTCTACCCAGGGCACAGCCAGGCTGCAGAGTGCTGGAGCTATGGAGGCCAAGATCTCACTCACTCCTACAGGCATGACTATGGCCGTCCTCAGCCGGACGCCAGGGCAGGTCACGATAGAAATCCTGACACTGCTCGCGGTTGAGGCCACGTGTGTTGTGTTTGCAGATGCAAGCTCCGTGCACCTATAGAGGTTGGCAGGTAGGTTGTCAGCACTGCTCAGCCATGTCCGCCCCTGCCCCTAGCCCTATCCCAACCGTCTGAAGCCCCTTACCATGCCCTCAGCATGGGCTGGTGCCCCTGGGGCGGGTGCACACTCTGAGGCGTGTCCGTAGCAGAAGCAGTTGCCACGTACAACCAGCTCATAGAGGGCATAGTAGTACTTCTCTCGGATCTCCCTCCGTGGGTCGAGTAGGTTGTCTCCCAACGTGTGTAGACGAGTCAGGTTCACCCGTAGGTTGGTGATCTTCAACAGGTCTGAGGCGGGGGAAGGGGGGCCAACTGACCAGGCAGGCCCTTGCTGCCCCATGTCCACCCAGGGGCTCAGCTGCCAAGGTCACCTTGAAAGACCTCCTATACACTGCCACCCGAGCTAAACTGGGCTTGGCACCTGCCCTAGGAAGCACCCAAAATAGTTACTGAGGCCCCAAATAGTCCCTAGCCGGACACGGACTGTGCCAGACTCAAAGGGTGGAGCACTCACTCTGAATCCGTGAGCTGTAGGGGTCTGGGATAGGGATGGCAGGGTCCAGCACACGATAGATGACCTGGAGAAGCAGGGAGTTCATAGTCACACTGGACCTTGCCTCAGGCCCATCATCCCCAGCTTCCAGCCCCCAGCCCAGATGCCAGCCCTCACCTCGCCTTCAGTGGATGGCTCAATCTCTGAGTAGCGGGACTCACAGACTACATCATCCCAGTGCCGTGGGGGTGCTAGTGGGACTCCTGGGAAGTCAGCCCCACAGTCATAGGAGAAATATCGGTACACATGCCAGGTGCGGCCAAAGTCTGCTGAGCGTTCCACCAGCATGGCAGCAGGGCGAAATGTCTGGGTAGGGGGGCATAGCTGATCAGCAGGCACCAGGACCCAAGCCCAACCCAGAGCCATCAAGAGCCCTGCTCAGCCCAAGACTGCCCTCAAATAGCTCACAGAGAGTGGGGGTGACTGGTGGAAGCCAGATAATGACCAGCAAAGGTAGCCACCTCTAATGGGGAGACTCAGGGTTCATGGGGCTCAGGGAGACAGCGCCTGACCCAGCCTGGGATTGGAAAGGCAGAAGAGCATGTGCAAAGGCCTGGAGGCAAATGGAAGGTGTGAAGGGATGAAGGAGCCTCCTGCATCCATGCTCAAGGAGGCTGTGTTAAGGAGCTGAGGCTCTGTCCAGGGGCAATGGAGAGCCAAGCAGGGTGATTCGGGCAGGCTCCCAGATATGCAGGCACCTTGAAGGTCATAATGAGGTGTGTGAAATGAAACTCAGCCTCCAGGTCCAGCTGGATGGTGACCGCAGGGATACCTGGGACAGGAATCGGAAGTCAAGGACTCAAAGCTACTGGTGGGCAGCCCTGCTCACTTTTGCCCCACCCATGGCCTCACCATTCTCTGACTGCCACCAGGCTGCCCGCCGCTGTGGTGCAAAGCTGGTGACTACATTCTGGATGCGATGGCTGTGTGGGTTGTCTCTAGCAGAGAAGGGGCGCCGGGAGTCACAAAGGAAGCACTTCTTTTCGTCCTGGGTTGGATGGGGATTAGAATCAGTGCCTCAGGCAGTGCCAGCCCCACCCTGACTCGGCGTCACACCCTGTCCCCAGCCACACCTGCAGGTGACTGACGATGCAGTAGGGCTGGGGGCCATTCAGGCCACAAGTGGATGAGGCAGTCAGTCTGTCAGCTCGGCCCACCAGCAGGTCGCCCGTGGCGGGGTAGCAGCTTCCCCTGGAACAGCCAGGCACATCCGGGGCAGGGGCCTGTGCCAGTGTGGCAGCCAGCACTGGGGACAGTAGCTCAGTCAGTTCCGCTGAGTTCCTATCCAGTGGCTCCACCTCATGTGCCCCAAGGGCAACTACCAGGACCTACCATCACATTCCACAACCCCCAGCCCCCACCAGGCCCTCTCACCGCTTAGCAGTAGGCCCAGTCGAAGTTCCCAGGGCAGAGGCTGTCCCCTCCCTCTTTCCCTTGAGGTCAGC
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Task1_train_7003
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This variant affects gene LAMB2 (laminin subunit beta 2) located on Chromosome 3. Evaluate its biological effect and specify any disease association.
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Pathogenic; Pierson syndrome
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AGGTTGCACCTGCTCACAGCGTCGCCCAACCATGTGCTGGCGGCAGTGGCATTGACCTGTGCCCTCATCACACCTGGAGGGAACTCTGTGGTTACTCAAGAAGAACCTTCTCTTCTGCTCAGGATCTTTCCCCATCCCTTCCCAGGCCCCCTTTACAACACTTACTGGGGATCCAAAGCACCACCCACGTCGCAGTCACAGGGGCGGCAGCCGAGCAGGTCGTGGCTCAGGCCCCAGTGGCCAGGCTGCACGAAAGGAGTTGCTGGGGGCCAGAAACAGACCTCCAGACCCCATCACCACCCAGCAGGAAATCCCAACCACACGTCTTAGCCTCAATCACCCCTCAGTGAAAACATGCCCCCCAGACCACTGGCCCACATCCTTGGCCTCCCAGACCTGAGGCTTCTCAGCCAGGACTGGATCCTAAGCTCTCAGCACCCACCCACTGGCATAGATGTGACACCCCAGCCCTGTGCTCTAAGGACAAATCATGCCCCTAGAACTCCAGCCCCTTCCAGTCGCACCAGGCAGCGGTCACATCCACGTCCAGTCACTAGACGTTTGCAGTAACAGGATCCACTGTTGGGGTCACAAGGAGTGCTCCCAGGCACTGTGCCCCGTGCATTACATTGACATCCTGCAGGGAAGGAGAACCATCAGCACTTTGGGAAACTGTGGCAGTGCTCATGTTCAGCTGAGTCAGGAGTAAGAGGACAGGGGTTAAAGGTCAGCATAGAAGTTAGGGCAGGAGACACATACGCCGGCAGCCCAGACGGTCACTGATGCTGAGCCCAAAGAAGCCATCACGGCATTGCTGGCAGCGAGTGCCCACCACATGTTCTTTGCAGCGACACTGGCCGGAGACCAGTCCCAGTGCAGGGTCATCATGGGAATCACAGCGACCACCGTCTTGAGAACCCATGGGGTCACAATCACAGGCTGACGGCAAAAAGAGATACAGGGTCACTCACCCTATCTCAACTAGCTCACTGCCAGTCCTCTCCTAAGCCTAAGGGATCCCACCCTGGATCCCTGGTCAAGTTCTATCCCAAGCCCCTAACCCCAATTTCCTGCAATTTAGACAGCAGTCCAGCTCTCTAGTTCCTGCCCCAGGCTCAGCTTTCTCTCCCCGTGCCCAATCCCAGCCTCACAGCGGCACACAGCCGGATCCCGCAGGTCCTTGGTTGGGTCACGGTAGAAGAAGGGCCGACAGAGCTCACAGTGGCGCCCAGCTGTGTTATGCTGACATCCATCACACACACCTCCACTCACATTGCCAGATGCCAGGTATACGGCCATGTCGAAGTGGCAGCTGTGGGTGTGCCCATGGCACTCACACTCTGGCAGGGGAGGAAGGGCAGGGCAAAGGCCACATGAGGAACCAGGTCACAAGGGTAAGAAGTAGGCCACCTTAGATCCCTATCACAGGCCAGAATTTGTGGGTAGGGGCTCAGGGACTTCAAGGCCTCAGCATCATACTGGTTCCCTACCCAGAGCAGACTGCAGAGGAGGATTGAGGGGGTCCCAAGGGGCATCAAGGTCTGCATACTCTTTGGATACAGCCTGGGTTTTAGGGGCTTGACCAACTAGCTCTAGGTTCTACCCAGGGCACAGCCAGGCTGCAGAGTGCTGGAGCTATGGAGGCCAAGATCTCACTCACTCCTACAGGCATGACTATGGCCGTCCTCAGCCGGACGCCAGGGCAGGTCACGATAGAAATCCTGACACTGCTCGCAGTTGAGGCCACGTGTGTTGTGTTTGCAGATGCAAGCTCCGTGCACCTATAGAGGTTGGCAGGTAGGTTGTCAGCACTGCTCAGCCATGTCCGCCCCTGCCCCTAGCCCTATCCCAACCGTCTGAAGCCCCTTACCATGCCCTCAGCATGGGCTGGTGCCCCTGGGGCGGGTGCACACTCTGAGGCGTGTCCGTAGCAGAAGCAGTTGCCACGTACAACCAGCTCATAGAGGGCATAGTAGTACTTCTCTCGGATCTCCCTCCGTGGGTCGAGTAGGTTGTCTCCCAACGTGTGTAGACGAGTCAGGTTCACCCGTAGGTTGGTGATCTTCAACAGGTCTGAGGCGGGGGAAGGGGGGCCAACTGACCAGGCAGGCCCTTGCTGCCCCATGTCCACCCAGGGGCTCAGCTGCCAAGGTCACCTTGAAAGACCTCCTATACACTGCCACCCGAGCTAAACTGGGCTTGGCACCTGCCCTAGGAAGCACCCAAAATAGTTACTGAGGCCCCAAATAGTCCCTAGCCGGACACGGACTGTGCCAGACTCAAAGGGTGGAGCACTCACTCTGAATCCGTGAGCTGTAGGGGTCTGGGATAGGGATGGCAGGGTCCAGCACACGATAGATGACCTGGAGAAGCAGGGAGTTCATAGTCACACTGGACCTTGCCTCAGGCCCATCATCCCCAGCTTCCAGCCCCCAGCCCAGATGCCAGCCCTCACCTCGCCTTCAGTGGATGGCTCAATCTCTGAGTAGCGGGACTCACAGACTACATCATCCCAGTGCCGTGGGGGTGCTAGTGGGACTCCTGGGAAGTCAGCCCCACAGTCATAGGAGAAATATCGGTACACATGCCAGGTGCGGCCAAAGTCTGCTGAGCGTTCCACCAGCATGGCAGCAGGGCGAAATGTCTGGGTAGGGGGGCATAGCTGATCAGCAGGCACCAGGACCCAAGCCCAACCCAGAGCCATCAAGAGCCCTGCTCAGCCCAAGACTGCCCTCAAATAGCTCACAGAGAGTGGGGGTGACTGGTGGAAGCCAGATAATGACCAGCAAAGGTAGCCACCTCTAATGGGGAGACTCAGGGTTCATGGGGCTCAGGGAGACAGCGCCTGACCCAGCCTGGGATTGGAAAGGCAGAAGAGCATGTGCAAAGGCCTGGAGGCAAATGGAAGGTGTGAAGGGATGAAGGAGCCTCCTGCATCCATGCTCAAGGAGGCTGTGTTAAGGAGCTGAGGCTCTGTCCAGGGGCAATGGAGAGCCAAGCAGGGTGATTCGGGCAGGCTCCCAGATATGCAGGCACCTTGAAGGTCATAATGAGGTGTGTGAAATGAAACTCAGCCTCCAGGTCCAGCTGGATGGTGACCGCAGGGATACCTGGGACAGGAATCGGAAGTCAAGGACTCAAAGCTACTGGTGGGCAGCCCTGCTCACTTTTGCCCCACCCATGGCCTCACCATTCTCTGACTGCCACCAGGCTGCCCGCCGCTGTGGTGCAAAGCTGGTGACTACATTCTGGATGCGATGGCTGTGTGGGTTGTCTCTAGCAGAGAAGGGGCGCCGGGAGTCACAAAGGAAGCACTTCTTTTCGTCCTGGGTTGGATGGGGATTAGAATCAGTGCCTCAGGCAGTGCCAGCCCCACCCTGACTCGGCGTCACACCCTGTCCCCAGCCACACCTGCAGGTGACTGACGATGCAGTAGGGCTGGGGGCCATTCAGGCCACAAGTGGATGAGGCAGTCAGTCTGTCAGCTCGGCCCACCAGCAGGTCGCCCGTGGCGGGGTAGCAGCTTCCCCTGGAACAGCCAGGCACATCCGGGGCAGGGGCCTGTGCCAGTGTGGCAGCCAGCACTGGGGACAGTAGCTCAGTCAGTTCCGCTGAGTTCCTATCCAGTGGCTCCACCTCATGTGCCCCAAGGGCAACTACCAGGACCTACCATCACATTCCACAACCCCCAGCCCCCACCAGGCCCTCTCACCGCTTAGCAGTAGGCCCAGTCGAAGTTCCCAGGGCAGAGGCTGTCCCCTCCCTCTTTCCCTTGAGGTCAGCTCCATCCTGAAGAGGGGAACAGGGATAAGGGGAGGTGAACGGTCTCGGGCCCGAGCCCTCCTCCTTGCTTTGGGGTTCCGTGTCAACTCTGCCTGTGGGTCTTTGGCCTGTTTCCCTCCAGGCCCTCTGTCAGTTCCCAGGTCTGTCCAGCGGTCCCTCCGACAGCTTAGAGTCCAGCGACTTTGAGCAAAGTTGGGAATCGCGGCAGGAAGGAAAGGCCGGAGCGGATTCTGGGAAGGAGCGCAACACCGGGCGGAGAGCGCCCCCACCCCAACCCTACCCCTTCCCTCCGGAAACTGCCTTCGCCCCAGGA
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AGGTTGCACCTGCTCACAGCGTCGCCCAACCATGTGCTGGCGGCAGTGGCATTGACCTGTGCCCTCATCACACCTGGAGGGAACTCTGTGGTTACTCAAGAAGAACCTTCTCTTCTGCTCAGGATCTTTCCCCATCCCTTCCCAGGCCCCCTTTACAACACTTACTGGGGATCCAAAGCACCACCCACGTCGCAGTCACAGGGGCGGCAGCCGAGCAGGTCGTGGCTCAGGCCCCAGTGGCCAGGCTGCACGAAAGGAGTTGCTGGGGGCCAGAAACAGACCTCCAGACCCCATCACCACCCAGCAGGAAATCCCAACCACACGTCTTAGCCTCAATCACCCCTCAGTGAAAACATGCCCCCCAGACCACTGGCCCACATCCTTGGCCTCCCAGACCTGAGGCTTCTCAGCCAGGACTGGATCCTAAGCTCTCAGCACCCACCCACTGGCATAGATGTGACACCCCAGCCCTGTGCTCTAAGGACAAATCATGCCCCTAGAACTCCAGCCCCTTCCAGTCGCACCAGGCAGCGGTCACATCCACGTCCAGTCACTAGACGTTTGCAGTAACAGGATCCACTGTTGGGGTCACAAGGAGTGCTCCCAGGCACTGTGCCCCGTGCATTACATTGACATCCTGCAGGGAAGGAGAACCATCAGCACTTTGGGAAACTGTGGCAGTGCTCATGTTCAGCTGAGTCAGGAGTAAGAGGACAGGGGTTAAAGGTCAGCATAGAAGTTAGGGCAGGAGACACATACGCCGGCAGCCCAGACGGTCACTGATGCTGAGCCCAAAGAAGCCATCACGGCATTGCTGGCAGCGAGTGCCCACCACATGTTCTTTGCAGCGACACTGGCCGGAGACCAGTCCCAGTGCAGGGTCATCATGGGAATCACAGCGACCACCGTCTTGAGAACCCATGGGGTCACAATCACAGGCTGACGGCAAAAAGAGATACAGGGTCACTCACCCTATCTCAACTAGCTCACTGCCAGTCCTCTCCTAAGCCTAAGGGATCCCACCCTGGATCCCTGGTCAAGTTCTATCCCAAGCCCCTAACCCCAATTTCCTGCAATTTAGACAGCAGTCCAGCTCTCTAGTTCCTGCCCCAGGCTCAGCTTTCTCTCCCCGTGCCCAATCCCAGCCTCACAGCGGCACACAGCCGGATCCCGCAGGTCCTTGGTTGGGTCACGGTAGAAGAAGGGCCGACAGAGCTCACAGTGGCGCCCAGCTGTGTTATGCTGACATCCATCACACACACCTCCACTCACATTGCCAGATGCCAGGTATACGGCCATGTCGAAGTGGCAGCTGTGGGTGTGCCCATGGCACTCACACTCTGGCAGGGGAGGAAGGGCAGGGCAAAGGCCACATGAGGAACCAGGTCACAAGGGTAAGAAGTAGGCCACCTTAGATCCCTATCACAGGCCAGAATTTGTGGGTAGGGGCTCAGGGACTTCAAGGCCTCAGCATCATACTGGTTCCCTACCCAGAGCAGACTGCAGAGGAGGATTGAGGGGGTCCCAAGGGGCATCAAGGTCTGCATACTCTTTGGATACAGCCTGGGTTTTAGGGGCTTGACCAACTAGCTCTAGGTTCTACCCAGGGCACAGCCAGGCTGCAGAGTGCTGGAGCTATGGAGGCCAAGATCTCACTCACTCCTACAGGCATGACTATGGCCGTCCTCAGCCGGACGCCAGGGCAGGTCACGATAGAAATCCTGACACTGCTCGCAGTTGAGGCCACGTGTGTTGTGTTTGCAGATGCAAGCTCCGTGCACCTATAGAGGTTGGCAGGTAGGTTGTCAGCACTGCTCAGCCATGTCCGCCCCTGCCCCTAGCCCTATCCCAACCGTCTGAAGCCCCTTACCATGCCCTCAGCATGGGCTGGTGCCCCTGGGGCGGGTGCACACTCTGAGGCGTGTCCGTAGCAGAAGCAGTTGCCACGTACAACCAGCTCATAGAGGGCATAGTAGTACTTCTCTCGGATCTCCCTCCGTGGGTCGAGTAGGTTGTCTCCCAACGTGTGTAGACGAGTCAGGTTCACCTGTAGGTTGGTGATCTTCAACAGGTCTGAGGCGGGGGAAGGGGGGCCAACTGACCAGGCAGGCCCTTGCTGCCCCATGTCCACCCAGGGGCTCAGCTGCCAAGGTCACCTTGAAAGACCTCCTATACACTGCCACCCGAGCTAAACTGGGCTTGGCACCTGCCCTAGGAAGCACCCAAAATAGTTACTGAGGCCCCAAATAGTCCCTAGCCGGACACGGACTGTGCCAGACTCAAAGGGTGGAGCACTCACTCTGAATCCGTGAGCTGTAGGGGTCTGGGATAGGGATGGCAGGGTCCAGCACACGATAGATGACCTGGAGAAGCAGGGAGTTCATAGTCACACTGGACCTTGCCTCAGGCCCATCATCCCCAGCTTCCAGCCCCCAGCCCAGATGCCAGCCCTCACCTCGCCTTCAGTGGATGGCTCAATCTCTGAGTAGCGGGACTCACAGACTACATCATCCCAGTGCCGTGGGGGTGCTAGTGGGACTCCTGGGAAGTCAGCCCCACAGTCATAGGAGAAATATCGGTACACATGCCAGGTGCGGCCAAAGTCTGCTGAGCGTTCCACCAGCATGGCAGCAGGGCGAAATGTCTGGGTAGGGGGGCATAGCTGATCAGCAGGCACCAGGACCCAAGCCCAACCCAGAGCCATCAAGAGCCCTGCTCAGCCCAAGACTGCCCTCAAATAGCTCACAGAGAGTGGGGGTGACTGGTGGAAGCCAGATAATGACCAGCAAAGGTAGCCACCTCTAATGGGGAGACTCAGGGTTCATGGGGCTCAGGGAGACAGCGCCTGACCCAGCCTGGGATTGGAAAGGCAGAAGAGCATGTGCAAAGGCCTGGAGGCAAATGGAAGGTGTGAAGGGATGAAGGAGCCTCCTGCATCCATGCTCAAGGAGGCTGTGTTAAGGAGCTGAGGCTCTGTCCAGGGGCAATGGAGAGCCAAGCAGGGTGATTCGGGCAGGCTCCCAGATATGCAGGCACCTTGAAGGTCATAATGAGGTGTGTGAAATGAAACTCAGCCTCCAGGTCCAGCTGGATGGTGACCGCAGGGATACCTGGGACAGGAATCGGAAGTCAAGGACTCAAAGCTACTGGTGGGCAGCCCTGCTCACTTTTGCCCCACCCATGGCCTCACCATTCTCTGACTGCCACCAGGCTGCCCGCCGCTGTGGTGCAAAGCTGGTGACTACATTCTGGATGCGATGGCTGTGTGGGTTGTCTCTAGCAGAGAAGGGGCGCCGGGAGTCACAAAGGAAGCACTTCTTTTCGTCCTGGGTTGGATGGGGATTAGAATCAGTGCCTCAGGCAGTGCCAGCCCCACCCTGACTCGGCGTCACACCCTGTCCCCAGCCACACCTGCAGGTGACTGACGATGCAGTAGGGCTGGGGGCCATTCAGGCCACAAGTGGATGAGGCAGTCAGTCTGTCAGCTCGGCCCACCAGCAGGTCGCCCGTGGCGGGGTAGCAGCTTCCCCTGGAACAGCCAGGCACATCCGGGGCAGGGGCCTGTGCCAGTGTGGCAGCCAGCACTGGGGACAGTAGCTCAGTCAGTTCCGCTGAGTTCCTATCCAGTGGCTCCACCTCATGTGCCCCAAGGGCAACTACCAGGACCTACCATCACATTCCACAACCCCCAGCCCCCACCAGGCCCTCTCACCGCTTAGCAGTAGGCCCAGTCGAAGTTCCCAGGGCAGAGGCTGTCCCCTCCCTCTTTCCCTTGAGGTCAGCTCCATCCTGAAGAGGGGAACAGGGATAAGGGGAGGTGAACGGTCTCGGGCCCGAGCCCTCCTCCTTGCTTTGGGGTTCCGTGTCAACTCTGCCTGTGGGTCTTTGGCCTGTTTCCCTCCAGGCCCTCTGTCAGTTCCCAGGTCTGTCCAGCGGTCCCTCCGACAGCTTAGAGTCCAGCGACTTTGAGCAAAGTTGGGAATCGCGGCAGGAAGGAAAGGCCGGAGCGGATTCTGGGAAGGAGCGCAACACCGGGCGGAGAGCGCCCCCACCCCAACCCTACCCCTTCCCTCCGGAAACTGCCTTCGCCCCAGGA
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Task1_train_7004
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A variant on Chromosome 3 in gene LAMB2 (laminin subunit beta 2) has been observed. Is this a neutral mutation, or does it result in a disease? If so, which one?
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Pathogenic; LAMB2-related infantile-onset nephrotic syndrome
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AGGTTGCACCTGCTCACAGCGTCGCCCAACCATGTGCTGGCGGCAGTGGCATTGACCTGTGCCCTCATCACACCTGGAGGGAACTCTGTGGTTACTCAAGAAGAACCTTCTCTTCTGCTCAGGATCTTTCCCCATCCCTTCCCAGGCCCCCTTTACAACACTTACTGGGGATCCAAAGCACCACCCACGTCGCAGTCACAGGGGCGGCAGCCGAGCAGGTCGTGGCTCAGGCCCCAGTGGCCAGGCTGCACGAAAGGAGTTGCTGGGGGCCAGAAACAGACCTCCAGACCCCATCACCACCCAGCAGGAAATCCCAACCACACGTCTTAGCCTCAATCACCCCTCAGTGAAAACATGCCCCCCAGACCACTGGCCCACATCCTTGGCCTCCCAGACCTGAGGCTTCTCAGCCAGGACTGGATCCTAAGCTCTCAGCACCCACCCACTGGCATAGATGTGACACCCCAGCCCTGTGCTCTAAGGACAAATCATGCCCCTAGAACTCCAGCCCCTTCCAGTCGCACCAGGCAGCGGTCACATCCACGTCCAGTCACTAGACGTTTGCAGTAACAGGATCCACTGTTGGGGTCACAAGGAGTGCTCCCAGGCACTGTGCCCCGTGCATTACATTGACATCCTGCAGGGAAGGAGAACCATCAGCACTTTGGGAAACTGTGGCAGTGCTCATGTTCAGCTGAGTCAGGAGTAAGAGGACAGGGGTTAAAGGTCAGCATAGAAGTTAGGGCAGGAGACACATACGCCGGCAGCCCAGACGGTCACTGATGCTGAGCCCAAAGAAGCCATCACGGCATTGCTGGCAGCGAGTGCCCACCACATGTTCTTTGCAGCGACACTGGCCGGAGACCAGTCCCAGTGCAGGGTCATCATGGGAATCACAGCGACCACCGTCTTGAGAACCCATGGGGTCACAATCACAGGCTGACGGCAAAAAGAGATACAGGGTCACTCACCCTATCTCAACTAGCTCACTGCCAGTCCTCTCCTAAGCCTAAGGGATCCCACCCTGGATCCCTGGTCAAGTTCTATCCCAAGCCCCTAACCCCAATTTCCTGCAATTTAGACAGCAGTCCAGCTCTCTAGTTCCTGCCCCAGGCTCAGCTTTCTCTCCCCGTGCCCAATCCCAGCCTCACAGCGGCACACAGCCGGATCCCGCAGGTCCTTGGTTGGGTCACGGTAGAAGAAGGGCCGACAGAGCTCACAGTGGCGCCCAGCTGTGTTATGCTGACATCCATCACACACACCTCCACTCACATTGCCAGATGCCAGGTATACGGCCATGTCGAAGTGGCAGCTGTGGGTGTGCCCATGGCACTCACACTCTGGCAGGGGAGGAAGGGCAGGGCAAAGGCCACATGAGGAACCAGGTCACAAGGGTAAGAAGTAGGCCACCTTAGATCCCTATCACAGGCCAGAATTTGTGGGTAGGGGCTCAGGGACTTCAAGGCCTCAGCATCATACTGGTTCCCTACCCAGAGCAGACTGCAGAGGAGGATTGAGGGGGTCCCAAGGGGCATCAAGGTCTGCATACTCTTTGGATACAGCCTGGGTTTTAGGGGCTTGACCAACTAGCTCTAGGTTCTACCCAGGGCACAGCCAGGCTGCAGAGTGCTGGAGCTATGGAGGCCAAGATCTCACTCACTCCTACAGGCATGACTATGGCCGTCCTCAGCCGGACGCCAGGGCAGGTCACGATAGAAATCCTGACACTGCTCGCAGTTGAGGCCACGTGTGTTGTGTTTGCAGATGCAAGCTCCGTGCACCTATAGAGGTTGGCAGGTAGGTTGTCAGCACTGCTCAGCCATGTCCGCCCCTGCCCCTAGCCCTATCCCAACCGTCTGAAGCCCCTTACCATGCCCTCAGCATGGGCTGGTGCCCCTGGGGCGGGTGCACACTCTGAGGCGTGTCCGTAGCAGAAGCAGTTGCCACGTACAACCAGCTCATAGAGGGCATAGTAGTACTTCTCTCGGATCTCCCTCCGTGGGTCGAGTAGGTTGTCTCCCAACGTGTGTAGACGAGTCAGGTTCACCCGTAGGTTGGTGATCTTCAACAGGTCTGAGGCGGGGGAAGGGGGGCCAACTGACCAGGCAGGCCCTTGCTGCCCCATGTCCACCCAGGGGCTCAGCTGCCAAGGTCACCTTGAAAGACCTCCTATACACTGCCACCCGAGCTAAACTGGGCTTGGCACCTGCCCTAGGAAGCACCCAAAATAGTTACTGAGGCCCCAAATAGTCCCTAGCCGGACACGGACTGTGCCAGACTCAAAGGGTGGAGCACTCACTCTGAATCCGTGAGCTGTAGGGGTCTGGGATAGGGATGGCAGGGTCCAGCACACGATAGATGACCTGGAGAAGCAGGGAGTTCATAGTCACACTGGACCTTGCCTCAGGCCCATCATCCCCAGCTTCCAGCCCCCAGCCCAGATGCCAGCCCTCACCTCGCCTTCAGTGGATGGCTCAATCTCTGAGTAGCGGGACTCACAGACTACATCATCCCAGTGCCGTGGGGGTGCTAGTGGGACTCCTGGGAAGTCAGCCCCACAGTCATAGGAGAAATATCGGTACACATGCCAGGTGCGGCCAAAGTCTGCTGAGCGTTCCACCAGCATGGCAGCAGGGCGAAATGTCTGGGTAGGGGGGCATAGCTGATCAGCAGGCACCAGGACCCAAGCCCAACCCAGAGCCATCAAGAGCCCTGCTCAGCCCAAGACTGCCCTCAAATAGCTCACAGAGAGTGGGGGTGACTGGTGGAAGCCAGATAATGACCAGCAAAGGTAGCCACCTCTAATGGGGAGACTCAGGGTTCATGGGGCTCAGGGAGACAGCGCCTGACCCAGCCTGGGATTGGAAAGGCAGAAGAGCATGTGCAAAGGCCTGGAGGCAAATGGAAGGTGTGAAGGGATGAAGGAGCCTCCTGCATCCATGCTCAAGGAGGCTGTGTTAAGGAGCTGAGGCTCTGTCCAGGGGCAATGGAGAGCCAAGCAGGGTGATTCGGGCAGGCTCCCAGATATGCAGGCACCTTGAAGGTCATAATGAGGTGTGTGAAATGAAACTCAGCCTCCAGGTCCAGCTGGATGGTGACCGCAGGGATACCTGGGACAGGAATCGGAAGTCAAGGACTCAAAGCTACTGGTGGGCAGCCCTGCTCACTTTTGCCCCACCCATGGCCTCACCATTCTCTGACTGCCACCAGGCTGCCCGCCGCTGTGGTGCAAAGCTGGTGACTACATTCTGGATGCGATGGCTGTGTGGGTTGTCTCTAGCAGAGAAGGGGCGCCGGGAGTCACAAAGGAAGCACTTCTTTTCGTCCTGGGTTGGATGGGGATTAGAATCAGTGCCTCAGGCAGTGCCAGCCCCACCCTGACTCGGCGTCACACCCTGTCCCCAGCCACACCTGCAGGTGACTGACGATGCAGTAGGGCTGGGGGCCATTCAGGCCACAAGTGGATGAGGCAGTCAGTCTGTCAGCTCGGCCCACCAGCAGGTCGCCCGTGGCGGGGTAGCAGCTTCCCCTGGAACAGCCAGGCACATCCGGGGCAGGGGCCTGTGCCAGTGTGGCAGCCAGCACTGGGGACAGTAGCTCAGTCAGTTCCGCTGAGTTCCTATCCAGTGGCTCCACCTCATGTGCCCCAAGGGCAACTACCAGGACCTACCATCACATTCCACAACCCCCAGCCCCCACCAGGCCCTCTCACCGCTTAGCAGTAGGCCCAGTCGAAGTTCCCAGGGCAGAGGCTGTCCCCTCCCTCTTTCCCTTGAGGTCAGCTCCATCCTGAAGAGGGGAACAGGGATAAGGGGAGGTGAACGGTCTCGGGCCCGAGCCCTCCTCCTTGCTTTGGGGTTCCGTGTCAACTCTGCCTGTGGGTCTTTGGCCTGTTTCCCTCCAGGCCCTCTGTCAGTTCCCAGGTCTGTCCAGCGGTCCCTCCGACAGCTTAGAGTCCAGCGACTTTGAGCAAAGTTGGGAATCGCGGCAGGAAGGAAAGGCCGGAGCGGATTCTGGGAAGGAGCGCAACACCGGGCGGAGAGCGCCCCCACCCCAACCCTACCCCTTCCCTCCGGAAACTGCCTTCGCCCCAGGA
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AGGTTGCACCTGCTCACAGCGTCGCCCAACCATGTGCTGGCGGCAGTGGCATTGACCTGTGCCCTCATCACACCTGGAGGGAACTCTGTGGTTACTCAAGAAGAACCTTCTCTTCTGCTCAGGATCTTTCCCCATCCCTTCCCAGGCCCCCTTTACAACACTTACTGGGGATCCAAAGCACCACCCACGTCGCAGTCACAGGGGCGGCAGCCGAGCAGGTCGTGGCTCAGGCCCCAGTGGCCAGGCTGCACGAAAGGAGTTGCTGGGGGCCAGAAACAGACCTCCAGACCCCATCACCACCCAGCAGGAAATCCCAACCACACGTCTTAGCCTCAATCACCCCTCAGTGAAAACATGCCCCCCAGACCACTGGCCCACATCCTTGGCCTCCCAGACCTGAGGCTTCTCAGCCAGGACTGGATCCTAAGCTCTCAGCACCCACCCACTGGCATAGATGTGACACCCCAGCCCTGTGCTCTAAGGACAAATCATGCCCCTAGAACTCCAGCCCCTTCCAGTCGCACCAGGCAGCGGTCACATCCACGTCCAGTCACTAGACGTTTGCAGTAACAGGATCCACTGTTGGGGTCACAAGGAGTGCTCCCAGGCACTGTGCCCCGTGCATTACATTGACATCCTGCAGGGAAGGAGAACCATCAGCACTTTGGGAAACTGTGGCAGTGCTCATGTTCAGCTGAGTCAGGAGTAAGAGGACAGGGGTTAAAGGTCAGCATAGAAGTTAGGGCAGGAGACACATACGCCGGCAGCCCAGACGGTCACTGATGCTGAGCCCAAAGAAGCCATCACGGCATTGCTGGCAGCGAGTGCCCACCACATGTTCTTTGCAGCGACACTGGCCGGAGACCAGTCCCAGTGCAGGGTCATCATGGGAATCACAGCGACCACCGTCTTGAGAACCCATGGGGTCACAATCACAGGCTGACGGCAAAAAGAGATACAGGGTCACTCACCCTATCTCAACTAGCTCACTGCCAGTCCTCTCCTAAGCCTAAGGGATCCCACCCTGGATCCCTGGTCAAGTTCTATCCCAAGCCCCTAACCCCAATTTCCTGCAATTTAGACAGCAGTCCAGCTCTCTAGTTCCTGCCCCAGGCTCAGCTTTCTCTCCCCGTGCCCAATCCCAGCCTCACAGCGGCACACAGCCGGATCCCGCAGGTCCTTGGTTGGGTCACGGTAGAAGAAGGGCCGACAGAGCTCACAGTGGCGCCCAGCTGTGTTATGCTGACATCCATCACACACACCTCCACTCACATTGCCAGATGCCAGGTATACGGCCATGTCGAAGTGGCAGCTGTGGGTGTGCCCATGGCACTCACACTCTGGCAGGGGAGGAAGGGCAGGGCAAAGGCCACATGAGGAACCAGGTCACAAGGGTAAGAAGTAGGCCACCTTAGATCCCTATCACAGGCCAGAATTTGTGGGTAGGGGCTCAGGGACTTCAAGGCCTCAGCATCATACTGGTTCCCTACCCAGAGCAGACTGCAGAGGAGGATTGAGGGGGTCCCAAGGGGCATCAAGGTCTGCATACTCTTTGGATACAGCCTGGGTTTTAGGGGCTTGACCAACTAGCTCTAGGTTCTACCCAGGGCACAGCCAGGCTGCAGAGTGCTGGAGCTATGGAGGCCAAGATCTCACTCACTCCTACAGGCATGACTATGGCCGTCCTCAGCCGGACGCCAGGGCAGGTCACGATAGAAATCCTGACACTGCTCGCAGTTGAGGCCACGTGTGTTGTGTTTGCAGATGCAAGCTCCGTGCACCTATAGAGGTTGGCAGGTAGGTTGTCAGCACTGCTCAGCCATGTCCGCCCCTGCCCCTAGCCCTATCCCAACCGTCTGAAGCCCCTTACCATGCCCTCAGCATGGGCTGGTGCCCCTGGGGCGGGTGCACACTCTGAGGCGTGTCCGTAGCAGAAGCAGTTGCCACGTACAACCAGCTCATAGAGGGCATAGTAGTACTTCTCTCGGATCTCCCTCCGTGGGTCGAGTAGGTTGTCTCCCAACGTGTGTAGACGAGTCAGGTTCACCTGTAGGTTGGTGATCTTCAACAGGTCTGAGGCGGGGGAAGGGGGGCCAACTGACCAGGCAGGCCCTTGCTGCCCCATGTCCACCCAGGGGCTCAGCTGCCAAGGTCACCTTGAAAGACCTCCTATACACTGCCACCCGAGCTAAACTGGGCTTGGCACCTGCCCTAGGAAGCACCCAAAATAGTTACTGAGGCCCCAAATAGTCCCTAGCCGGACACGGACTGTGCCAGACTCAAAGGGTGGAGCACTCACTCTGAATCCGTGAGCTGTAGGGGTCTGGGATAGGGATGGCAGGGTCCAGCACACGATAGATGACCTGGAGAAGCAGGGAGTTCATAGTCACACTGGACCTTGCCTCAGGCCCATCATCCCCAGCTTCCAGCCCCCAGCCCAGATGCCAGCCCTCACCTCGCCTTCAGTGGATGGCTCAATCTCTGAGTAGCGGGACTCACAGACTACATCATCCCAGTGCCGTGGGGGTGCTAGTGGGACTCCTGGGAAGTCAGCCCCACAGTCATAGGAGAAATATCGGTACACATGCCAGGTGCGGCCAAAGTCTGCTGAGCGTTCCACCAGCATGGCAGCAGGGCGAAATGTCTGGGTAGGGGGGCATAGCTGATCAGCAGGCACCAGGACCCAAGCCCAACCCAGAGCCATCAAGAGCCCTGCTCAGCCCAAGACTGCCCTCAAATAGCTCACAGAGAGTGGGGGTGACTGGTGGAAGCCAGATAATGACCAGCAAAGGTAGCCACCTCTAATGGGGAGACTCAGGGTTCATGGGGCTCAGGGAGACAGCGCCTGACCCAGCCTGGGATTGGAAAGGCAGAAGAGCATGTGCAAAGGCCTGGAGGCAAATGGAAGGTGTGAAGGGATGAAGGAGCCTCCTGCATCCATGCTCAAGGAGGCTGTGTTAAGGAGCTGAGGCTCTGTCCAGGGGCAATGGAGAGCCAAGCAGGGTGATTCGGGCAGGCTCCCAGATATGCAGGCACCTTGAAGGTCATAATGAGGTGTGTGAAATGAAACTCAGCCTCCAGGTCCAGCTGGATGGTGACCGCAGGGATACCTGGGACAGGAATCGGAAGTCAAGGACTCAAAGCTACTGGTGGGCAGCCCTGCTCACTTTTGCCCCACCCATGGCCTCACCATTCTCTGACTGCCACCAGGCTGCCCGCCGCTGTGGTGCAAAGCTGGTGACTACATTCTGGATGCGATGGCTGTGTGGGTTGTCTCTAGCAGAGAAGGGGCGCCGGGAGTCACAAAGGAAGCACTTCTTTTCGTCCTGGGTTGGATGGGGATTAGAATCAGTGCCTCAGGCAGTGCCAGCCCCACCCTGACTCGGCGTCACACCCTGTCCCCAGCCACACCTGCAGGTGACTGACGATGCAGTAGGGCTGGGGGCCATTCAGGCCACAAGTGGATGAGGCAGTCAGTCTGTCAGCTCGGCCCACCAGCAGGTCGCCCGTGGCGGGGTAGCAGCTTCCCCTGGAACAGCCAGGCACATCCGGGGCAGGGGCCTGTGCCAGTGTGGCAGCCAGCACTGGGGACAGTAGCTCAGTCAGTTCCGCTGAGTTCCTATCCAGTGGCTCCACCTCATGTGCCCCAAGGGCAACTACCAGGACCTACCATCACATTCCACAACCCCCAGCCCCCACCAGGCCCTCTCACCGCTTAGCAGTAGGCCCAGTCGAAGTTCCCAGGGCAGAGGCTGTCCCCTCCCTCTTTCCCTTGAGGTCAGCTCCATCCTGAAGAGGGGAACAGGGATAAGGGGAGGTGAACGGTCTCGGGCCCGAGCCCTCCTCCTTGCTTTGGGGTTCCGTGTCAACTCTGCCTGTGGGTCTTTGGCCTGTTTCCCTCCAGGCCCTCTGTCAGTTCCCAGGTCTGTCCAGCGGTCCCTCCGACAGCTTAGAGTCCAGCGACTTTGAGCAAAGTTGGGAATCGCGGCAGGAAGGAAAGGCCGGAGCGGATTCTGGGAAGGAGCGCAACACCGGGCGGAGAGCGCCCCCACCCCAACCCTACCCCTTCCCTCCGGAAACTGCCTTCGCCCCAGGA
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Task1_train_7005
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A variant on Chromosome 3 in gene RHOA (ras homolog family member A) has been observed. Is this a neutral mutation, or does it result in a disease? If so, which one?
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Pathogenic; Ectodermal dysplasia with facial dysmorphism and acral, ocular, and brain anomalies
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TACAAAAATCACCCAGGCGTGGGGGCGTATGCCTGTAGTCCAAGCTACTTGGGAGGCTGAGACAGGAGATTTGCTTGAACCTGGAAGGCGGAGGTTGCAGTGAGCCAAGATTGTGCCACTCAACTCCAGCCTGGGCAACAGAGCGAGACCCCGCCTCTAAATCAATCAATCAATCATAACTGCTGAAAATGATCTAAGTGAACCAACGGCATGGAATACGTGCTCTTTCTCTGTCCTGGGACATACTGCACAGAGGACTCAATCTTAGCTCAGCTCCTTGGGCCAGCATGACCTTAAACAAGTGGCTCAATATCTTGGAGCAACCCCAGTTATCATCATTAAGGTAGGGACAACCATAACAACACAATCACTCTAACACTAACTATCCAGGCAACCCGAGGCCACAAGCAGACCCTCAAAGGCTGTTTGTGGTAATGACGACAACATCCTTGACCCACCTGCTGCCCTGTCATGACAGGGAGGGCTGCAGCACAAGTTTATTAATAGATACCTCATCATCTTCAGCACAAACCTAAAGCAAGTTTTTTCAAGCCTGGTTTCACAGAATGTCAGGTTAGCATTCTTCAGTCTTTTTCTAAAGAATACTGACTTCTGGGCCAGGCGCAGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCAGGCGGATCACGAGGTCAGGAGATCAAGATCATCCTGGCTAACGTGGTGAAATCCCATCTCTACTAAAAAATACAAAAAATTAGCCGGGCGTGGTGGTGGCCACCTGTAGTCCCAGCTACTTGGGTGGCTGAGGCAGGAGAATGGCATCAACCCAGGAGGCAGAGCTTGCAGTGAGCTGAGATCAAGCTGCTGCAATCCAGCCTGGGAGACAGAGCAAGACTCCCTCTCAAAAAAAAAAAAAAAAAAAAAAAAGAATACTGACTTACTGACTTCTGAATTATGTGGCTGTGTTTAGGCTAATGAAATGATCACATTCAAGCTTCTATCAGCTAAGACACTTCAGAAAAAGGCTAAGACAGGGCAACCAAAAAAAAGAAAGTCTTTCCCCAAAAGAGATGGCTTTACATTTGGAACTCATCTAGTTTGCTCATCTTTTTTTTTGGGAGATGGAGTCTGCAGTACAGTGGCATGATCTTGGCTCACTGCAACTTCTGCTTCCCAGGCTCAAGTGATTCTCCTGCCTCAGCCCCTGGAATAGCTGGGATTACAAGTGCACGCCACCACACCCAGCTAATTTTTGTATTTTAGTAGAGACAAGGGGTTCACCATGTTGCCTAGGCTGGTCTCAAACTCCTGACCTCAGGTGATCTGCCAGCCTCGGCCTCCCAAAGTGCTAGGATTACAGGTGTCAGCCGCCGCACCAGCCTTAGTTTACTCATCTTTGTATCTGGAATTCATCTAGTTTACAAGGCAGTTAGATTTTTAAATAACATTTAATATTATTTAGTAATAATAATAATAATTATTATTTTTGAGATAGAGTCTTGCTCTGTTGCTCAGTCTGGAATGCAGTGCCATAATCTCGGCTCACTGCAATCTCCACCTACCAGGTTCAAACGATTCTCCTGCCTCAGCCTCCCAAGTACCTGGGACTACAGGCGTGCACCACCATGCCTGGCTAATTTTTTTGTACTTTTAGTAAAGACGGGGTTTCACCATGTTGGCCAGGCTGGTCTTGAACTCCTGACCCTCAGGTGATCCACCCGTCTGGACCTCCCAAAGCGCAGGGATTATAGGTGTCAGGCACCGTGCCCTGCCTAGGTGGATACATTTTAAATACAGTACCCATGGGAGACCTAGGCTGAAAGGGACCCAAGGCCCACGCTCTACAATCCCAAACTCCAGGACTCCGGCCACTGACGATGATTGCTTCTCTGAAGTTCATGTCTGCTTTTCAGCCACTTGATGCCCAGAAACCAGATGCCAACTAGCTACACAGGCAGTGACAAATATCAGGGTGCAGGGCCACTCACCTAAACTATCAGGGCTGTCGATGGAAAAACACATCAGTATAACATCGGTATCTGGGTAGGAGAGGGGCCTCAGGCGATCATAATCTTCCTGCCCAGCTGTGTCCCACAAAGCCAACTCTACCTGTAATGGGAAAAACAACCACAAGAGTGCAAGGTTAATCCCCCCACCCACTTTTAGAAAAAGTGACACTTACCATAGTACATTGAAATGGCAGACCATTGAAATGGCAGACGGTCTAAAACAGTAAAACACAGGAGTATTTACATTTTTTCTTTTTTCTTTTTTTTTTTTTTTTTTGAGATGTAGTCTTGCTCTGTCGCCCAGGCTAGAGTGCAGTGGCGCGATCTCTGCTCCCTGCAAGCTCCGTCTCCCGGGTTCACACCATTCTCCTGCCTTGGCCTCCCAAGTAGCTGGGACTACAGGTGCCCGCCATCACACCCGGCTAATTTTTTGTATTTTTAGTAGAGACGGGGTTTCACTGTGTTAGCCAGGATGGTCTGGATCTCCTGACCTCATGATCCGTCCGCCTCGGCCTCCCAAAGTGTTGGGATTGCAGGCGTGACCCACCGCGCCTGGCCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGTTGAGACGGAGTCTTACTCTGTTGCTCAGACTGGAGTTCAGTGGCAAGATCTTGGCTCACTGCAAGCTCTGCCCCCGGGTTCATGCCATTCTCCTGCCTCAGCCTCCTGAGCAGCTGGGACTACAGGCGCCCGCCACCACGCTTGGCTAATTTTTCGTACTTTTAGTAGAGACGGGGTTTCACCATGTTAGCCAGGATGGTCTTGATCTCCTGACCTCGTGATCCGCCTGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCACACCCGGCCGAGTATTCACTTTTATGAGCATCAAGCTCAAATGAGAGTATATTTAAATTATTTTAGGTTGAAATTTCTCAAAATTGAAAATCTGAGAACCCACCTCTACAAAAACACCTTAAAAATTAGCTGAGTGTGGCCAGGCGCGGTGGCTCATGCCTGTAATCCTAGCACTTTGGGAGGCTGAGGCGGGCTGACTGCCTGAGCTCAGGAGTTCGAGACCAGCCTGGGCAACATGGTGAAACCCCGTCCCTACTAAAATACGAAAGAAATTAGCCAGGCACGGCAGCGTGCGCCTGTAGTCCCAGCTACTGGAGAGGCTAAGGCAGGTGAATTGCTTGAACTCGAGAGGCAAAGGTTGCAGTGAGCCAAGATCGTGCCACTGCACTCCAGCACTCCAGCATGGGCGACAAAGCGAGCCTCCATCTCTAAAAAAAAAAAAAATAAATAAAATAAAACTTAGCTGAGTGTGGGCTGGGTGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGCGGGCGGATCACCTGAAGTCGGAAGTTCGAGACTAGCCTGACAAATGTGGAGAAACCCCATCTCTACTGAAAATACAAAATTAGCTGGGCGTGGTGAAGCATGCCTGTAATCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATCGCTTGAACCCAGGAGGCGGAGGTTGCAATGAGTGGAGGTTGCAATGAGCTGAGATTGCACCACTGCACTCCAGCCTGGCCAACAAGAGCGAAACTCCATTTAAAAAAAAAAAAAAATTAGCTGACTGTGGTGGTGCACGCCTGTAGTCCCAGCTACTTGGGAGACTGAGGTGGGAGGACTGCTTGAGCCCGGGAGGCGGAGGTTGCAGTAAGCAGAGATTGTGCCACTGCACTGCAGCCTAGGCAGTGAGACCTTGACTCAATTAGGAAAAAAACAAAAAAACAAAACAGATACTAGAACTGAACCAAGTGGCATAATTCAAAATGTCAAGTCAAAAATAACTCTGTAGCTTATAAAAGTGTTTAATTATAAATAACATTCTACTAGGAAAGAAAGCAGACAGGAGGGAAGAAATCAAATTTTAAATAACATCCTACCAGGCATACAGGCGAGAGAGGAAGATACAAGACTAAGTAAATTTTCTGCTATAATGTGGAAACCATGGAAACAAATCTGTATTTTGAGTTGGTAGGTAGGAAAAGACACCATGCTGGCTGTTA
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TACAAAAATCACCCAGGCGTGGGGGCGTATGCCTGTAGTCCAAGCTACTTGGGAGGCTGAGACAGGAGATTTGCTTGAACCTGGAAGGCGGAGGTTGCAGTGAGCCAAGATTGTGCCACTCAACTCCAGCCTGGGCAACAGAGCGAGACCCCGCCTCTAAATCAATCAATCAATCATAACTGCTGAAAATGATCTAAGTGAACCAACGGCATGGAATACGTGCTCTTTCTCTGTCCTGGGACATACTGCACAGAGGACTCAATCTTAGCTCAGCTCCTTGGGCCAGCATGACCTTAAACAAGTGGCTCAATATCTTGGAGCAACCCCAGTTATCATCATTAAGGTAGGGACAACCATAACAACACAATCACTCTAACACTAACTATCCAGGCAACCCGAGGCCACAAGCAGACCCTCAAAGGCTGTTTGTGGTAATGACGACAACATCCTTGACCCACCTGCTGCCCTGTCATGACAGGGAGGGCTGCAGCACAAGTTTATTAATAGATACCTCATCATCTTCAGCACAAACCTAAAGCAAGTTTTTTCAAGCCTGGTTTCACAGAATGTCAGGTTAGCATTCTTCAGTCTTTTTCTAAAGAATACTGACTTCTGGGCCAGGCGCAGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCAGGCGGATCACGAGGTCAGGAGATCAAGATCATCCTGGCTAACGTGGTGAAATCCCATCTCTACTAAAAAATACAAAAAATTAGCCGGGCGTGGTGGTGGCCACCTGTAGTCCCAGCTACTTGGGTGGCTGAGGCAGGAGAATGGCATCAACCCAGGAGGCAGAGCTTGCAGTGAGCTGAGATCAAGCTGCTGCAATCCAGCCTGGGAGACAGAGCAAGACTCCCTCTCAAAAAAAAAAAAAAAAAAAAAAAAGAATACTGACTTACTGACTTCTGAATTATGTGGCTGTGTTTAGGCTAATGAAATGATCACATTCAAGCTTCTATCAGCTAAGACACTTCAGAAAAAGGCTAAGACAGGGCAACCAAAAAAAAGAAAGTCTTTCCCCAAAAGAGATGGCTTTACATTTGGAACTCATCTAGTTTGCTCATCTTTTTTTTTGGGAGATGGAGTCTGCAGTACAGTGGCATGATCTTGGCTCACTGCAACTTCTGCTTCCCAGGCTCAAGTGATTCTCCTGCCTCAGCCCCTGGAATAGCTGGGATTACAAGTGCACGCCACCACACCCAGCTAATTTTTGTATTTTAGTAGAGACAAGGGGTTCACCATGTTGCCTAGGCTGGTCTCAAACTCCTGACCTCAGGTGATCTGCCAGCCTCGGCCTCCCAAAGTGCTAGGATTACAGGTGTCAGCCGCCGCACCAGCCTTAGTTTACTCATCTTTGTATCTGGAATTCATCTAGTTTACAAGGCAGTTAGATTTTTAAATAACATTTAATATTATTTAGTAATAATAATAATAATTATTATTTTTGAGATAGAGTCTTGCTCTGTTGCTCAGTCTGGAATGCAGTGCCATAATCTCGGCTCACTGCAATCTCCACCTACCAGGTTCAAACGATTCTCCTGCCTCAGCCTCCCAAGTACCTGGGACTACAGGCGTGCACCACCATGCCTGGCTAATTTTTTTGTACTTTTAGTAAAGACGGGGTTTCACCATGTTGGCCAGGCTGGTCTTGAACTCCTGACCCTCAGGTGATCCACCCGTCTGGACCTCCCAAAGCGCAGGGATTATAGGTGTCAGGCACCGTGCCCTGCCTAGGTGGATACATTTTAAATACAGTACCCATGGGAGACCTAGGCTGAAAGGGACCCAAGGCCCACGCTCTACAATCCCAAACTCCAGGACTCCGGCCACTGACGATGATTGCTTCTCTGAAGTTCATGTCTGCTTTTCAGCCACTTGATGCCCAGAAACCAGATGCCAACTAGCTACACAGGCAGTGACAAATATCAGGGTGCAGGGCCACTCACCTAAACTATCAGGGCTGTCGATGGAAAAACACATCAGTATAACATCGGTATCTGGGTAGGAGAGGGACCTCAGGCGATCATAATCTTCCTGCCCAGCTGTGTCCCACAAAGCCAACTCTACCTGTAATGGGAAAAACAACCACAAGAGTGCAAGGTTAATCCCCCCACCCACTTTTAGAAAAAGTGACACTTACCATAGTACATTGAAATGGCAGACCATTGAAATGGCAGACGGTCTAAAACAGTAAAACACAGGAGTATTTACATTTTTTCTTTTTTCTTTTTTTTTTTTTTTTTTGAGATGTAGTCTTGCTCTGTCGCCCAGGCTAGAGTGCAGTGGCGCGATCTCTGCTCCCTGCAAGCTCCGTCTCCCGGGTTCACACCATTCTCCTGCCTTGGCCTCCCAAGTAGCTGGGACTACAGGTGCCCGCCATCACACCCGGCTAATTTTTTGTATTTTTAGTAGAGACGGGGTTTCACTGTGTTAGCCAGGATGGTCTGGATCTCCTGACCTCATGATCCGTCCGCCTCGGCCTCCCAAAGTGTTGGGATTGCAGGCGTGACCCACCGCGCCTGGCCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGTTGAGACGGAGTCTTACTCTGTTGCTCAGACTGGAGTTCAGTGGCAAGATCTTGGCTCACTGCAAGCTCTGCCCCCGGGTTCATGCCATTCTCCTGCCTCAGCCTCCTGAGCAGCTGGGACTACAGGCGCCCGCCACCACGCTTGGCTAATTTTTCGTACTTTTAGTAGAGACGGGGTTTCACCATGTTAGCCAGGATGGTCTTGATCTCCTGACCTCGTGATCCGCCTGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCACACCCGGCCGAGTATTCACTTTTATGAGCATCAAGCTCAAATGAGAGTATATTTAAATTATTTTAGGTTGAAATTTCTCAAAATTGAAAATCTGAGAACCCACCTCTACAAAAACACCTTAAAAATTAGCTGAGTGTGGCCAGGCGCGGTGGCTCATGCCTGTAATCCTAGCACTTTGGGAGGCTGAGGCGGGCTGACTGCCTGAGCTCAGGAGTTCGAGACCAGCCTGGGCAACATGGTGAAACCCCGTCCCTACTAAAATACGAAAGAAATTAGCCAGGCACGGCAGCGTGCGCCTGTAGTCCCAGCTACTGGAGAGGCTAAGGCAGGTGAATTGCTTGAACTCGAGAGGCAAAGGTTGCAGTGAGCCAAGATCGTGCCACTGCACTCCAGCACTCCAGCATGGGCGACAAAGCGAGCCTCCATCTCTAAAAAAAAAAAAAATAAATAAAATAAAACTTAGCTGAGTGTGGGCTGGGTGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGCGGGCGGATCACCTGAAGTCGGAAGTTCGAGACTAGCCTGACAAATGTGGAGAAACCCCATCTCTACTGAAAATACAAAATTAGCTGGGCGTGGTGAAGCATGCCTGTAATCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATCGCTTGAACCCAGGAGGCGGAGGTTGCAATGAGTGGAGGTTGCAATGAGCTGAGATTGCACCACTGCACTCCAGCCTGGCCAACAAGAGCGAAACTCCATTTAAAAAAAAAAAAAAATTAGCTGACTGTGGTGGTGCACGCCTGTAGTCCCAGCTACTTGGGAGACTGAGGTGGGAGGACTGCTTGAGCCCGGGAGGCGGAGGTTGCAGTAAGCAGAGATTGTGCCACTGCACTGCAGCCTAGGCAGTGAGACCTTGACTCAATTAGGAAAAAAACAAAAAAACAAAACAGATACTAGAACTGAACCAAGTGGCATAATTCAAAATGTCAAGTCAAAAATAACTCTGTAGCTTATAAAAGTGTTTAATTATAAATAACATTCTACTAGGAAAGAAAGCAGACAGGAGGGAAGAAATCAAATTTTAAATAACATCCTACCAGGCATACAGGCGAGAGAGGAAGATACAAGACTAAGTAAATTTTCTGCTATAATGTGGAAACCATGGAAACAAATCTGTATTTTGAGTTGGTAGGTAGGAAAAGACACCATGCTGGCTGTTA
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Task1_train_7006
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A genetic alteration is present in RHOA (ras homolog family member A) on Chromosome 3. Is this variant benign or disease-causing, and if the latter, which condition is involved?
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Pathogenic; neuro-ectodermal phenotype
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ATCAAGTGTTAGCAGCATATGAGACATATAACTGAATGCTCAAGAAAAATGAGAATGTTGGAGAAGAGCACCTCATTCTAGTTTTAGGGGTTTTTTCCTTTCAGCTGACCCACTTCAAAAGATGTATAGGAGAGCTGGGCACGCTGGCTTGCGCCTGTAAGCCCAGCCACTTGGGGCTGAGATGGAAGAACTTGAGCCCAGTTGTTTGAAACCAGCTGGACCAACACAAGACCTCATCTCTAAAAACATAAATTACCCAGGTGTGGTGGCACATACCTACAGTGCCAGCTATTTGGGAGGCTGAGGTGGAAGGATCACTTGAGCCCAAGAGTTCAAGGCTGCATGATCATGTCACAGCACTGCAGGCCTGGGAGACAAAGTACAATCCCTGTCTCTTTATTTAAGAGAAAAAAAAAAAAGTATGAGAGGCCAAGCAAAGCATTACTTAGACAACAAAAGGAAGCAGAAGATTAAAAAAAAAAACAAAAACAAACCAAAACCAAAATTAAAACCCAAAAAAACCCTCCAATTTCACAAGAGCTTTGTTCCAGTCTTGCCAGAGGGCTTTTAGGACAGAAATGGGGAAGCACTGTTCTCACCATCAATGACAATAAAATAAAACAACTGTGGCAGGCTATTTTATGTTAAAGTAAAAAAAAATCTTTTGGCCGGGCACAGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCCGAGACGGGCAGATCACAAGATCAGGAGATCGAGACCATCCTGGCTAACACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTAGCCAGTCTGGTGGTGGACACCTGTAGTCCCAGCTACTTGGGAGGATGAGGCAGGAGAACAGCGTGAACCCAGGAGGCAGAGCTTGAACTAGTAATCTAATACTGGGACATCTGATTAAATACTTTGACAGAATTTTTGTCAAAGTCCAAGCATACAAAGAAGTTCATCTGAGCATTATCTATATGGCAATGAACTAAACTTCAAATATACGTAAACTTGAAAAGAGCACATATGGCTGGGCAAGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCTGAGGCAGGTGGATCATCTGAGGTCAGGAGCTTGAGACCAGCCTGGCCAACATGGCAAAATTGCATCTTTACAAAATACAAGTATTAGCCAGGCATGGCGGCGTGCGCCTGTAATCCCAGCTACTCTACTCTGGAGGCTGAGGCAAAAGAATTGCTTGAACCCGGGAGGTGGAGGTTGCAGCGAGCTGAGATTGTACCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCTGTCTCAAACAACAAAACAAAACAAAAAAAAAACACATATGCTAAGGACACCATGTCAAATACATATGAATGTAAACAAAGTCTGGATGAGTAGCAGTTAAAAATGAAAAAACAGCCAATCACCTGCGGTCAGGAGTTCATGACCAGCCTGGCCAACGTAGTGAAACCCCATTTCTACTAAAAATACAAAAATCAGCCAGGTGTGGTGGCATATTCCCGTAATCCCAGCTACTGGGGAGGCTGAGGCAGGAGAATCCTTTAAACCTGGGGGAAGGCTGGGCACAGTGGCTCACTCCTGTAATCCCAGCACTTTGGGAGGCTGAGGTGGGTGGATCACCCGAGGTCAGAAGTTTGAGACCAGCCTGGTGAAACCCCATCTCTACTAAACGAAAAATGAGCTCAGCATGGTGGCAACATGCCTGTAATCCCTGCTATTTGGGAGGCTGAGGCAGGAGAATCACTTGAACCTGGGAGGCAGAGGTTGCAGTGAGCCAAGACCGAGCCACTGCACTCTAGCCTGGGCAACAGAATGAGACTCCGTCTCCAAAAAAAAAAAAAGAACAAACTTGGACTAAGATGGCAGGATGAGAATGGATTCTTCTTTCCAACATTTTTGTTATATGGTATACTGAAGAGGCAAAAAGCTCTAATTCTCTACATGCTCCATAAATATTCTAACATGGAAAATGGCATCAGTTGTTATGAAAAGTATACTCACCTGCTTTCCATCCACCTCGATATCTGCCACATAGTTCTCAAACACTGTGGGCACATACACCTCTGGGAACTGGTCCTTGCTGAAGACTATGAGCAAGCATGTCTTTCCACAGGCTCCATCACCAACAATCACCAGTTTCTTCCGGATGGCAGCCATTGCTGAAACACAAAACACAGATATTACCTGCAATGCACAAGAAGTCATAGGTAGCTTACAGGATGACACATGCTTTGGTAACCATGGGGCATAAACCTCTATTAGCATACTCAAATTCAAACTTCTAGTACGCCGATCCACCTGGCACCAAAAGGTTATACATTAAAAACTCGTAACTAACATTATACTTAATGGTAAAAGACTGAAAAAAAGGTCTGCCCCCTAAGATCAGGAACAAGACAAGAATGTCTGTTCTTGCCACTTCTTTTTTTTTTTGAGACGGAGTCTCACTCTGTCGCCCAGGCTGGAGTGCACTGGCCCAATCTCAGTTCACTGCAACCTCCAGCCTCCCGGGTTCAAGCAATTCTCCTGCCTCAGACTCCCAAGTAGCTGGGATTACAGGCACGTACCACCACATCCAGCTAATTTTTGATAGAGATGGGGTTTCACCTTGTTGGCCAGGCTGGTCTTGAACTCCTGACCTCAGGTGATCCACCTGCCTCAGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCACGCCTGGCCTGTTCTTGCTACTTCTATCCAGCAGGATACTGGAGGTCCTAGCCAGGGCAATAAGGTAAGAAAATGAAATAAAAGACATCCAAATTGGAAAGGAAGAAGTAAAACTATCTCAATTCACACATGAGATGATTTTGTAATGTGGGAAATCCTAAAGAAAACTTTTAGAATAAACAAGTTCAGTAAGGTTGCAGGATACAATATTAACATTAAAAAATCAATTGAGCCAGGCGCAGTGGCTCACGCCTATAATCCCAGCACTTTGGGAGGCCGAGGCGGGTGGATCACGAGGTCAGGAGATCGAGACCATCCTGGCTAACACGGAGAAACCCCATCTCTACTAAAAATACAAATAACTAGCCGGGCATGGTGGCAGGCACCTGTAGTCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCAGGAGACAGAGCTTGCAGTGAGCCAAGATCGGGCCACTGCACACCAGCCTGGGGGACAGAGTAAGACTCCATCTCACAAAAAAAAAAAAAAAAAAAAAGGAAACAATTTGTCAAGCAGGGTAAAAACAATGAAAGGACTGATGAAAGGGAGTACCCAAGGGAGGAAAGAACCAAAAAAGTCATCGGCAGGTTGTTTGGGTAGACATTCTGCAATCTTTCTAAGTTTGGATATTCCTTCTTTTACCAATCTAGATTTGTTTGTAAAGAAACAGCATTCTTGGCTGGGCGCGGTGGCTCACGCCTATAATCCCAGCATTTTGGGAGGCCGAGGCAGGCAGATCACCTGAGGTCAGGAGTTTGAGACCAGCCTGGCCAACATGGAGAAACCCCATCTCTACCAAAAATACAAAATTAGCCAGGCGTGGTGGCACATGCCTATAATCCTAGCTACACAGGAGCAAGAGGCAGGAGAATCGCTTGAACCCGGGAGGCAGAGGTTGTGGTGAGCCGAGATCATGCCATTGCACTCCAGCCTGGGCAACAAGAGCGAAACTCCGTCTCAAAAAAGAAAAATCAATTGAGGCCGAGCACAGTGGTTCATGTCTGTAATCCCAACACTTTGGGAGACTGAAGCAGGAGGAATGCTCAGGCCCAGGAGTTAAGAGACCAGCCCTGACAACATAGTGAGACACTGAGAAAGGAAGGACGGACGGAAGCATGAGAGGGGAGGGGAGAAAGAAAAGGGCCGGGCGCAGTGGCTCACGCCTATAATCCCAGCAATCTGGGAGGCCGAAACAGGTGGACTGCTTGAGAGTCCAGGAGTTCAAGACGAGCCTGGGAAACATAGTGAAACCCTGTCTCTACTAAAAATACAAAAAATTAGCCAGGAGCGGTGGTGCATGCTAATCACAGTTACTTGGGAGGCTCAGGT
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ATCAAGTGTTAGCAGCATATGAGACATATAACTGAATGCTCAAGAAAAATGAGAATGTTGGAGAAGAGCACCTCATTCTAGTTTTAGGGGTTTTTTCCTTTCAGCTGACCCACTTCAAAAGATGTATAGGAGAGCTGGGCACGCTGGCTTGCGCCTGTAAGCCCAGCCACTTGGGGCTGAGATGGAAGAACTTGAGCCCAGTTGTTTGAAACCAGCTGGACCAACACAAGACCTCATCTCTAAAAACATAAATTACCCAGGTGTGGTGGCACATACCTACAGTGCCAGCTATTTGGGAGGCTGAGGTGGAAGGATCACTTGAGCCCAAGAGTTCAAGGCTGCATGATCATGTCACAGCACTGCAGGCCTGGGAGACAAAGTACAATCCCTGTCTCTTTATTTAAGAGAAAAAAAAAAAAGTATGAGAGGCCAAGCAAAGCATTACTTAGACAACAAAAGGAAGCAGAAGATTAAAAAAAAAAACAAAAACAAACCAAAACCAAAATTAAAACCCAAAAAAACCCTCCAATTTCACAAGAGCTTTGTTCCAGTCTTGCCAGAGGGCTTTTAGGACAGAAATGGGGAAGCACTGTTCTCACCATCAATGACAATAAAATAAAACAACTGTGGCAGGCTATTTTATGTTAAAGTAAAAAAAAATCTTTTGGCCGGGCACAGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCCGAGACGGGCAGATCACAAGATCAGGAGATCGAGACCATCCTGGCTAACACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTAGCCAGTCTGGTGGTGGACACCTGTAGTCCCAGCTACTTGGGAGGATGAGGCAGGAGAACAGCGTGAACCCAGGAGGCAGAGCTTGAACTAGTAATCTAATACTGGGACATCTGATTAAATACTTTGACAGAATTTTTGTCAAAGTCCAAGCATACAAAGAAGTTCATCTGAGCATTATCTATATGGCAATGAACTAAACTTCAAATATACGTAAACTTGAAAAGAGCACATATGGCTGGGCAAGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCTGAGGCAGGTGGATCATCTGAGGTCAGGAGCTTGAGACCAGCCTGGCCAACATGGCAAAATTGCATCTTTACAAAATACAAGTATTAGCCAGGCATGGCGGCGTGCGCCTGTAATCCCAGCTACTCTACTCTGGAGGCTGAGGCAAAAGAATTGCTTGAACCCGGGAGGTGGAGGTTGCAGCGAGCTGAGATTGTACCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCTGTCTCAAACAACAAAACAAAACAAAAAAAAAACACATATGCTAAGGACACCATGTCAAATACATATGAATGTAAACAAAGTCTGGATGAGTAGCAGTTAAAAATGAAAAAACAGCCAATCACCTGCGGTCAGGAGTTCATGACCAGCCTGGCCAACGTAGTGAAACCCCATTTCTACTAAAAATACAAAAATCAGCCAGGTGTGGTGGCATATTCCCGTAATCCCAGCTACTGGGGAGGCTGAGGCAGGAGAATCCTTTAAACCTGGGGGAAGGCTGGGCACAGTGGCTCACTCCTGTAATCCCAGCACTTTGGGAGGCTGAGGTGGGTGGATCACCCGAGGTCAGAAGTTTGAGACCAGCCTGGTGAAACCCCATCTCTACTAAACGAAAAATGAGCTCAGCATGGTGGCAACATGCCTGTAATCCCTGCTATTTGGGAGGCTGAGGCAGGAGAATCACTTGAACCTGGGAGGCAGAGGTTGCAGTGAGCCAAGACCGAGCCACTGCACTCTAGCCTGGGCAACAGAATGAGACTCCGTCTCCAAAAAAAAAAAAAGAACAAACTTGGACTAAGATGGCAGGATGAGAATGGATTCTTCTTTCCAACATTTTTGTTATATGGTATACTGAAGAGGCAAAAAGCTCTAATTCTCTACATGCTCCATAAATATTCTAACATGGAAAATGGCATCAGTTGTTATGAAAAGTATACTCACCTGCTTTCCATCCACCTTGATATCTGCCACATAGTTCTCAAACACTGTGGGCACATACACCTCTGGGAACTGGTCCTTGCTGAAGACTATGAGCAAGCATGTCTTTCCACAGGCTCCATCACCAACAATCACCAGTTTCTTCCGGATGGCAGCCATTGCTGAAACACAAAACACAGATATTACCTGCAATGCACAAGAAGTCATAGGTAGCTTACAGGATGACACATGCTTTGGTAACCATGGGGCATAAACCTCTATTAGCATACTCAAATTCAAACTTCTAGTACGCCGATCCACCTGGCACCAAAAGGTTATACATTAAAAACTCGTAACTAACATTATACTTAATGGTAAAAGACTGAAAAAAAGGTCTGCCCCCTAAGATCAGGAACAAGACAAGAATGTCTGTTCTTGCCACTTCTTTTTTTTTTTGAGACGGAGTCTCACTCTGTCGCCCAGGCTGGAGTGCACTGGCCCAATCTCAGTTCACTGCAACCTCCAGCCTCCCGGGTTCAAGCAATTCTCCTGCCTCAGACTCCCAAGTAGCTGGGATTACAGGCACGTACCACCACATCCAGCTAATTTTTGATAGAGATGGGGTTTCACCTTGTTGGCCAGGCTGGTCTTGAACTCCTGACCTCAGGTGATCCACCTGCCTCAGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCACGCCTGGCCTGTTCTTGCTACTTCTATCCAGCAGGATACTGGAGGTCCTAGCCAGGGCAATAAGGTAAGAAAATGAAATAAAAGACATCCAAATTGGAAAGGAAGAAGTAAAACTATCTCAATTCACACATGAGATGATTTTGTAATGTGGGAAATCCTAAAGAAAACTTTTAGAATAAACAAGTTCAGTAAGGTTGCAGGATACAATATTAACATTAAAAAATCAATTGAGCCAGGCGCAGTGGCTCACGCCTATAATCCCAGCACTTTGGGAGGCCGAGGCGGGTGGATCACGAGGTCAGGAGATCGAGACCATCCTGGCTAACACGGAGAAACCCCATCTCTACTAAAAATACAAATAACTAGCCGGGCATGGTGGCAGGCACCTGTAGTCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCAGGAGACAGAGCTTGCAGTGAGCCAAGATCGGGCCACTGCACACCAGCCTGGGGGACAGAGTAAGACTCCATCTCACAAAAAAAAAAAAAAAAAAAAAGGAAACAATTTGTCAAGCAGGGTAAAAACAATGAAAGGACTGATGAAAGGGAGTACCCAAGGGAGGAAAGAACCAAAAAAGTCATCGGCAGGTTGTTTGGGTAGACATTCTGCAATCTTTCTAAGTTTGGATATTCCTTCTTTTACCAATCTAGATTTGTTTGTAAAGAAACAGCATTCTTGGCTGGGCGCGGTGGCTCACGCCTATAATCCCAGCATTTTGGGAGGCCGAGGCAGGCAGATCACCTGAGGTCAGGAGTTTGAGACCAGCCTGGCCAACATGGAGAAACCCCATCTCTACCAAAAATACAAAATTAGCCAGGCGTGGTGGCACATGCCTATAATCCTAGCTACACAGGAGCAAGAGGCAGGAGAATCGCTTGAACCCGGGAGGCAGAGGTTGTGGTGAGCCGAGATCATGCCATTGCACTCCAGCCTGGGCAACAAGAGCGAAACTCCGTCTCAAAAAAGAAAAATCAATTGAGGCCGAGCACAGTGGTTCATGTCTGTAATCCCAACACTTTGGGAGACTGAAGCAGGAGGAATGCTCAGGCCCAGGAGTTAAGAGACCAGCCCTGACAACATAGTGAGACACTGAGAAAGGAAGGACGGACGGAAGCATGAGAGGGGAGGGGAGAAAGAAAAGGGCCGGGCGCAGTGGCTCACGCCTATAATCCCAGCAATCTGGGAGGCCGAAACAGGTGGACTGCTTGAGAGTCCAGGAGTTCAAGACGAGCCTGGGAAACATAGTGAAACCCTGTCTCTACTAAAAATACAAAAAATTAGCCAGGAGCGGTGGTGCATGCTAATCACAGTTACTTGGGAGGCTCAGGT
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Task1_train_7007
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Gene RHOA (ras homolog family member A), found on Chromosome 3, is impacted by this variant. What is the biological outcome — benign or pathogenic?
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Pathogenic; Ectodermal dysplasia with facial dysmorphism and acral, ocular, and brain anomalies
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ATCAAGTGTTAGCAGCATATGAGACATATAACTGAATGCTCAAGAAAAATGAGAATGTTGGAGAAGAGCACCTCATTCTAGTTTTAGGGGTTTTTTCCTTTCAGCTGACCCACTTCAAAAGATGTATAGGAGAGCTGGGCACGCTGGCTTGCGCCTGTAAGCCCAGCCACTTGGGGCTGAGATGGAAGAACTTGAGCCCAGTTGTTTGAAACCAGCTGGACCAACACAAGACCTCATCTCTAAAAACATAAATTACCCAGGTGTGGTGGCACATACCTACAGTGCCAGCTATTTGGGAGGCTGAGGTGGAAGGATCACTTGAGCCCAAGAGTTCAAGGCTGCATGATCATGTCACAGCACTGCAGGCCTGGGAGACAAAGTACAATCCCTGTCTCTTTATTTAAGAGAAAAAAAAAAAAGTATGAGAGGCCAAGCAAAGCATTACTTAGACAACAAAAGGAAGCAGAAGATTAAAAAAAAAAACAAAAACAAACCAAAACCAAAATTAAAACCCAAAAAAACCCTCCAATTTCACAAGAGCTTTGTTCCAGTCTTGCCAGAGGGCTTTTAGGACAGAAATGGGGAAGCACTGTTCTCACCATCAATGACAATAAAATAAAACAACTGTGGCAGGCTATTTTATGTTAAAGTAAAAAAAAATCTTTTGGCCGGGCACAGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCCGAGACGGGCAGATCACAAGATCAGGAGATCGAGACCATCCTGGCTAACACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTAGCCAGTCTGGTGGTGGACACCTGTAGTCCCAGCTACTTGGGAGGATGAGGCAGGAGAACAGCGTGAACCCAGGAGGCAGAGCTTGAACTAGTAATCTAATACTGGGACATCTGATTAAATACTTTGACAGAATTTTTGTCAAAGTCCAAGCATACAAAGAAGTTCATCTGAGCATTATCTATATGGCAATGAACTAAACTTCAAATATACGTAAACTTGAAAAGAGCACATATGGCTGGGCAAGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCTGAGGCAGGTGGATCATCTGAGGTCAGGAGCTTGAGACCAGCCTGGCCAACATGGCAAAATTGCATCTTTACAAAATACAAGTATTAGCCAGGCATGGCGGCGTGCGCCTGTAATCCCAGCTACTCTACTCTGGAGGCTGAGGCAAAAGAATTGCTTGAACCCGGGAGGTGGAGGTTGCAGCGAGCTGAGATTGTACCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCTGTCTCAAACAACAAAACAAAACAAAAAAAAAACACATATGCTAAGGACACCATGTCAAATACATATGAATGTAAACAAAGTCTGGATGAGTAGCAGTTAAAAATGAAAAAACAGCCAATCACCTGCGGTCAGGAGTTCATGACCAGCCTGGCCAACGTAGTGAAACCCCATTTCTACTAAAAATACAAAAATCAGCCAGGTGTGGTGGCATATTCCCGTAATCCCAGCTACTGGGGAGGCTGAGGCAGGAGAATCCTTTAAACCTGGGGGAAGGCTGGGCACAGTGGCTCACTCCTGTAATCCCAGCACTTTGGGAGGCTGAGGTGGGTGGATCACCCGAGGTCAGAAGTTTGAGACCAGCCTGGTGAAACCCCATCTCTACTAAACGAAAAATGAGCTCAGCATGGTGGCAACATGCCTGTAATCCCTGCTATTTGGGAGGCTGAGGCAGGAGAATCACTTGAACCTGGGAGGCAGAGGTTGCAGTGAGCCAAGACCGAGCCACTGCACTCTAGCCTGGGCAACAGAATGAGACTCCGTCTCCAAAAAAAAAAAAAGAACAAACTTGGACTAAGATGGCAGGATGAGAATGGATTCTTCTTTCCAACATTTTTGTTATATGGTATACTGAAGAGGCAAAAAGCTCTAATTCTCTACATGCTCCATAAATATTCTAACATGGAAAATGGCATCAGTTGTTATGAAAAGTATACTCACCTGCTTTCCATCCACCTCGATATCTGCCACATAGTTCTCAAACACTGTGGGCACATACACCTCTGGGAACTGGTCCTTGCTGAAGACTATGAGCAAGCATGTCTTTCCACAGGCTCCATCACCAACAATCACCAGTTTCTTCCGGATGGCAGCCATTGCTGAAACACAAAACACAGATATTACCTGCAATGCACAAGAAGTCATAGGTAGCTTACAGGATGACACATGCTTTGGTAACCATGGGGCATAAACCTCTATTAGCATACTCAAATTCAAACTTCTAGTACGCCGATCCACCTGGCACCAAAAGGTTATACATTAAAAACTCGTAACTAACATTATACTTAATGGTAAAAGACTGAAAAAAAGGTCTGCCCCCTAAGATCAGGAACAAGACAAGAATGTCTGTTCTTGCCACTTCTTTTTTTTTTTGAGACGGAGTCTCACTCTGTCGCCCAGGCTGGAGTGCACTGGCCCAATCTCAGTTCACTGCAACCTCCAGCCTCCCGGGTTCAAGCAATTCTCCTGCCTCAGACTCCCAAGTAGCTGGGATTACAGGCACGTACCACCACATCCAGCTAATTTTTGATAGAGATGGGGTTTCACCTTGTTGGCCAGGCTGGTCTTGAACTCCTGACCTCAGGTGATCCACCTGCCTCAGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCACGCCTGGCCTGTTCTTGCTACTTCTATCCAGCAGGATACTGGAGGTCCTAGCCAGGGCAATAAGGTAAGAAAATGAAATAAAAGACATCCAAATTGGAAAGGAAGAAGTAAAACTATCTCAATTCACACATGAGATGATTTTGTAATGTGGGAAATCCTAAAGAAAACTTTTAGAATAAACAAGTTCAGTAAGGTTGCAGGATACAATATTAACATTAAAAAATCAATTGAGCCAGGCGCAGTGGCTCACGCCTATAATCCCAGCACTTTGGGAGGCCGAGGCGGGTGGATCACGAGGTCAGGAGATCGAGACCATCCTGGCTAACACGGAGAAACCCCATCTCTACTAAAAATACAAATAACTAGCCGGGCATGGTGGCAGGCACCTGTAGTCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCAGGAGACAGAGCTTGCAGTGAGCCAAGATCGGGCCACTGCACACCAGCCTGGGGGACAGAGTAAGACTCCATCTCACAAAAAAAAAAAAAAAAAAAAAGGAAACAATTTGTCAAGCAGGGTAAAAACAATGAAAGGACTGATGAAAGGGAGTACCCAAGGGAGGAAAGAACCAAAAAAGTCATCGGCAGGTTGTTTGGGTAGACATTCTGCAATCTTTCTAAGTTTGGATATTCCTTCTTTTACCAATCTAGATTTGTTTGTAAAGAAACAGCATTCTTGGCTGGGCGCGGTGGCTCACGCCTATAATCCCAGCATTTTGGGAGGCCGAGGCAGGCAGATCACCTGAGGTCAGGAGTTTGAGACCAGCCTGGCCAACATGGAGAAACCCCATCTCTACCAAAAATACAAAATTAGCCAGGCGTGGTGGCACATGCCTATAATCCTAGCTACACAGGAGCAAGAGGCAGGAGAATCGCTTGAACCCGGGAGGCAGAGGTTGTGGTGAGCCGAGATCATGCCATTGCACTCCAGCCTGGGCAACAAGAGCGAAACTCCGTCTCAAAAAAGAAAAATCAATTGAGGCCGAGCACAGTGGTTCATGTCTGTAATCCCAACACTTTGGGAGACTGAAGCAGGAGGAATGCTCAGGCCCAGGAGTTAAGAGACCAGCCCTGACAACATAGTGAGACACTGAGAAAGGAAGGACGGACGGAAGCATGAGAGGGGAGGGGAGAAAGAAAAGGGCCGGGCGCAGTGGCTCACGCCTATAATCCCAGCAATCTGGGAGGCCGAAACAGGTGGACTGCTTGAGAGTCCAGGAGTTCAAGACGAGCCTGGGAAACATAGTGAAACCCTGTCTCTACTAAAAATACAAAAAATTAGCCAGGAGCGGTGGTGCATGCTAATCACAGTTACTTGGGAGGCTCAGGT
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ATCAAGTGTTAGCAGCATATGAGACATATAACTGAATGCTCAAGAAAAATGAGAATGTTGGAGAAGAGCACCTCATTCTAGTTTTAGGGGTTTTTTCCTTTCAGCTGACCCACTTCAAAAGATGTATAGGAGAGCTGGGCACGCTGGCTTGCGCCTGTAAGCCCAGCCACTTGGGGCTGAGATGGAAGAACTTGAGCCCAGTTGTTTGAAACCAGCTGGACCAACACAAGACCTCATCTCTAAAAACATAAATTACCCAGGTGTGGTGGCACATACCTACAGTGCCAGCTATTTGGGAGGCTGAGGTGGAAGGATCACTTGAGCCCAAGAGTTCAAGGCTGCATGATCATGTCACAGCACTGCAGGCCTGGGAGACAAAGTACAATCCCTGTCTCTTTATTTAAGAGAAAAAAAAAAAAGTATGAGAGGCCAAGCAAAGCATTACTTAGACAACAAAAGGAAGCAGAAGATTAAAAAAAAAAACAAAAACAAACCAAAACCAAAATTAAAACCCAAAAAAACCCTCCAATTTCACAAGAGCTTTGTTCCAGTCTTGCCAGAGGGCTTTTAGGACAGAAATGGGGAAGCACTGTTCTCACCATCAATGACAATAAAATAAAACAACTGTGGCAGGCTATTTTATGTTAAAGTAAAAAAAAATCTTTTGGCCGGGCACAGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCCGAGACGGGCAGATCACAAGATCAGGAGATCGAGACCATCCTGGCTAACACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTAGCCAGTCTGGTGGTGGACACCTGTAGTCCCAGCTACTTGGGAGGATGAGGCAGGAGAACAGCGTGAACCCAGGAGGCAGAGCTTGAACTAGTAATCTAATACTGGGACATCTGATTAAATACTTTGACAGAATTTTTGTCAAAGTCCAAGCATACAAAGAAGTTCATCTGAGCATTATCTATATGGCAATGAACTAAACTTCAAATATACGTAAACTTGAAAAGAGCACATATGGCTGGGCAAGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCTGAGGCAGGTGGATCATCTGAGGTCAGGAGCTTGAGACCAGCCTGGCCAACATGGCAAAATTGCATCTTTACAAAATACAAGTATTAGCCAGGCATGGCGGCGTGCGCCTGTAATCCCAGCTACTCTACTCTGGAGGCTGAGGCAAAAGAATTGCTTGAACCCGGGAGGTGGAGGTTGCAGCGAGCTGAGATTGTACCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCTGTCTCAAACAACAAAACAAAACAAAAAAAAAACACATATGCTAAGGACACCATGTCAAATACATATGAATGTAAACAAAGTCTGGATGAGTAGCAGTTAAAAATGAAAAAACAGCCAATCACCTGCGGTCAGGAGTTCATGACCAGCCTGGCCAACGTAGTGAAACCCCATTTCTACTAAAAATACAAAAATCAGCCAGGTGTGGTGGCATATTCCCGTAATCCCAGCTACTGGGGAGGCTGAGGCAGGAGAATCCTTTAAACCTGGGGGAAGGCTGGGCACAGTGGCTCACTCCTGTAATCCCAGCACTTTGGGAGGCTGAGGTGGGTGGATCACCCGAGGTCAGAAGTTTGAGACCAGCCTGGTGAAACCCCATCTCTACTAAACGAAAAATGAGCTCAGCATGGTGGCAACATGCCTGTAATCCCTGCTATTTGGGAGGCTGAGGCAGGAGAATCACTTGAACCTGGGAGGCAGAGGTTGCAGTGAGCCAAGACCGAGCCACTGCACTCTAGCCTGGGCAACAGAATGAGACTCCGTCTCCAAAAAAAAAAAAAGAACAAACTTGGACTAAGATGGCAGGATGAGAATGGATTCTTCTTTCCAACATTTTTGTTATATGGTATACTGAAGAGGCAAAAAGCTCTAATTCTCTACATGCTCCATAAATATTCTAACATGGAAAATGGCATCAGTTGTTATGAAAAGTATACTCACCTGCTTTCCATCCACCTTGATATCTGCCACATAGTTCTCAAACACTGTGGGCACATACACCTCTGGGAACTGGTCCTTGCTGAAGACTATGAGCAAGCATGTCTTTCCACAGGCTCCATCACCAACAATCACCAGTTTCTTCCGGATGGCAGCCATTGCTGAAACACAAAACACAGATATTACCTGCAATGCACAAGAAGTCATAGGTAGCTTACAGGATGACACATGCTTTGGTAACCATGGGGCATAAACCTCTATTAGCATACTCAAATTCAAACTTCTAGTACGCCGATCCACCTGGCACCAAAAGGTTATACATTAAAAACTCGTAACTAACATTATACTTAATGGTAAAAGACTGAAAAAAAGGTCTGCCCCCTAAGATCAGGAACAAGACAAGAATGTCTGTTCTTGCCACTTCTTTTTTTTTTTGAGACGGAGTCTCACTCTGTCGCCCAGGCTGGAGTGCACTGGCCCAATCTCAGTTCACTGCAACCTCCAGCCTCCCGGGTTCAAGCAATTCTCCTGCCTCAGACTCCCAAGTAGCTGGGATTACAGGCACGTACCACCACATCCAGCTAATTTTTGATAGAGATGGGGTTTCACCTTGTTGGCCAGGCTGGTCTTGAACTCCTGACCTCAGGTGATCCACCTGCCTCAGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCACGCCTGGCCTGTTCTTGCTACTTCTATCCAGCAGGATACTGGAGGTCCTAGCCAGGGCAATAAGGTAAGAAAATGAAATAAAAGACATCCAAATTGGAAAGGAAGAAGTAAAACTATCTCAATTCACACATGAGATGATTTTGTAATGTGGGAAATCCTAAAGAAAACTTTTAGAATAAACAAGTTCAGTAAGGTTGCAGGATACAATATTAACATTAAAAAATCAATTGAGCCAGGCGCAGTGGCTCACGCCTATAATCCCAGCACTTTGGGAGGCCGAGGCGGGTGGATCACGAGGTCAGGAGATCGAGACCATCCTGGCTAACACGGAGAAACCCCATCTCTACTAAAAATACAAATAACTAGCCGGGCATGGTGGCAGGCACCTGTAGTCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCAGGAGACAGAGCTTGCAGTGAGCCAAGATCGGGCCACTGCACACCAGCCTGGGGGACAGAGTAAGACTCCATCTCACAAAAAAAAAAAAAAAAAAAAAGGAAACAATTTGTCAAGCAGGGTAAAAACAATGAAAGGACTGATGAAAGGGAGTACCCAAGGGAGGAAAGAACCAAAAAAGTCATCGGCAGGTTGTTTGGGTAGACATTCTGCAATCTTTCTAAGTTTGGATATTCCTTCTTTTACCAATCTAGATTTGTTTGTAAAGAAACAGCATTCTTGGCTGGGCGCGGTGGCTCACGCCTATAATCCCAGCATTTTGGGAGGCCGAGGCAGGCAGATCACCTGAGGTCAGGAGTTTGAGACCAGCCTGGCCAACATGGAGAAACCCCATCTCTACCAAAAATACAAAATTAGCCAGGCGTGGTGGCACATGCCTATAATCCTAGCTACACAGGAGCAAGAGGCAGGAGAATCGCTTGAACCCGGGAGGCAGAGGTTGTGGTGAGCCGAGATCATGCCATTGCACTCCAGCCTGGGCAACAAGAGCGAAACTCCGTCTCAAAAAAGAAAAATCAATTGAGGCCGAGCACAGTGGTTCATGTCTGTAATCCCAACACTTTGGGAGACTGAAGCAGGAGGAATGCTCAGGCCCAGGAGTTAAGAGACCAGCCCTGACAACATAGTGAGACACTGAGAAAGGAAGGACGGACGGAAGCATGAGAGGGGAGGGGAGAAAGAAAAGGGCCGGGCGCAGTGGCTCACGCCTATAATCCCAGCAATCTGGGAGGCCGAAACAGGTGGACTGCTTGAGAGTCCAGGAGTTCAAGACGAGCCTGGGAAACATAGTGAAACCCTGTCTCTACTAAAAATACAAAAAATTAGCCAGGAGCGGTGGTGCATGCTAATCACAGTTACTTGGGAGGCTCAGGT
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Task1_train_7008
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A variant affecting Chromosome 3, within the gene RHOA (ras homolog family member A), has been observed. Determine if it's benign or associated with disease.
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Pathogenic; Hemihypertrophy
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ATCAAGTGTTAGCAGCATATGAGACATATAACTGAATGCTCAAGAAAAATGAGAATGTTGGAGAAGAGCACCTCATTCTAGTTTTAGGGGTTTTTTCCTTTCAGCTGACCCACTTCAAAAGATGTATAGGAGAGCTGGGCACGCTGGCTTGCGCCTGTAAGCCCAGCCACTTGGGGCTGAGATGGAAGAACTTGAGCCCAGTTGTTTGAAACCAGCTGGACCAACACAAGACCTCATCTCTAAAAACATAAATTACCCAGGTGTGGTGGCACATACCTACAGTGCCAGCTATTTGGGAGGCTGAGGTGGAAGGATCACTTGAGCCCAAGAGTTCAAGGCTGCATGATCATGTCACAGCACTGCAGGCCTGGGAGACAAAGTACAATCCCTGTCTCTTTATTTAAGAGAAAAAAAAAAAAGTATGAGAGGCCAAGCAAAGCATTACTTAGACAACAAAAGGAAGCAGAAGATTAAAAAAAAAAACAAAAACAAACCAAAACCAAAATTAAAACCCAAAAAAACCCTCCAATTTCACAAGAGCTTTGTTCCAGTCTTGCCAGAGGGCTTTTAGGACAGAAATGGGGAAGCACTGTTCTCACCATCAATGACAATAAAATAAAACAACTGTGGCAGGCTATTTTATGTTAAAGTAAAAAAAAATCTTTTGGCCGGGCACAGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCCGAGACGGGCAGATCACAAGATCAGGAGATCGAGACCATCCTGGCTAACACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTAGCCAGTCTGGTGGTGGACACCTGTAGTCCCAGCTACTTGGGAGGATGAGGCAGGAGAACAGCGTGAACCCAGGAGGCAGAGCTTGAACTAGTAATCTAATACTGGGACATCTGATTAAATACTTTGACAGAATTTTTGTCAAAGTCCAAGCATACAAAGAAGTTCATCTGAGCATTATCTATATGGCAATGAACTAAACTTCAAATATACGTAAACTTGAAAAGAGCACATATGGCTGGGCAAGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCTGAGGCAGGTGGATCATCTGAGGTCAGGAGCTTGAGACCAGCCTGGCCAACATGGCAAAATTGCATCTTTACAAAATACAAGTATTAGCCAGGCATGGCGGCGTGCGCCTGTAATCCCAGCTACTCTACTCTGGAGGCTGAGGCAAAAGAATTGCTTGAACCCGGGAGGTGGAGGTTGCAGCGAGCTGAGATTGTACCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCTGTCTCAAACAACAAAACAAAACAAAAAAAAAACACATATGCTAAGGACACCATGTCAAATACATATGAATGTAAACAAAGTCTGGATGAGTAGCAGTTAAAAATGAAAAAACAGCCAATCACCTGCGGTCAGGAGTTCATGACCAGCCTGGCCAACGTAGTGAAACCCCATTTCTACTAAAAATACAAAAATCAGCCAGGTGTGGTGGCATATTCCCGTAATCCCAGCTACTGGGGAGGCTGAGGCAGGAGAATCCTTTAAACCTGGGGGAAGGCTGGGCACAGTGGCTCACTCCTGTAATCCCAGCACTTTGGGAGGCTGAGGTGGGTGGATCACCCGAGGTCAGAAGTTTGAGACCAGCCTGGTGAAACCCCATCTCTACTAAACGAAAAATGAGCTCAGCATGGTGGCAACATGCCTGTAATCCCTGCTATTTGGGAGGCTGAGGCAGGAGAATCACTTGAACCTGGGAGGCAGAGGTTGCAGTGAGCCAAGACCGAGCCACTGCACTCTAGCCTGGGCAACAGAATGAGACTCCGTCTCCAAAAAAAAAAAAAGAACAAACTTGGACTAAGATGGCAGGATGAGAATGGATTCTTCTTTCCAACATTTTTGTTATATGGTATACTGAAGAGGCAAAAAGCTCTAATTCTCTACATGCTCCATAAATATTCTAACATGGAAAATGGCATCAGTTGTTATGAAAAGTATACTCACCTGCTTTCCATCCACCTCGATATCTGCCACATAGTTCTCAAACACTGTGGGCACATACACCTCTGGGAACTGGTCCTTGCTGAAGACTATGAGCAAGCATGTCTTTCCACAGGCTCCATCACCAACAATCACCAGTTTCTTCCGGATGGCAGCCATTGCTGAAACACAAAACACAGATATTACCTGCAATGCACAAGAAGTCATAGGTAGCTTACAGGATGACACATGCTTTGGTAACCATGGGGCATAAACCTCTATTAGCATACTCAAATTCAAACTTCTAGTACGCCGATCCACCTGGCACCAAAAGGTTATACATTAAAAACTCGTAACTAACATTATACTTAATGGTAAAAGACTGAAAAAAAGGTCTGCCCCCTAAGATCAGGAACAAGACAAGAATGTCTGTTCTTGCCACTTCTTTTTTTTTTTGAGACGGAGTCTCACTCTGTCGCCCAGGCTGGAGTGCACTGGCCCAATCTCAGTTCACTGCAACCTCCAGCCTCCCGGGTTCAAGCAATTCTCCTGCCTCAGACTCCCAAGTAGCTGGGATTACAGGCACGTACCACCACATCCAGCTAATTTTTGATAGAGATGGGGTTTCACCTTGTTGGCCAGGCTGGTCTTGAACTCCTGACCTCAGGTGATCCACCTGCCTCAGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCACGCCTGGCCTGTTCTTGCTACTTCTATCCAGCAGGATACTGGAGGTCCTAGCCAGGGCAATAAGGTAAGAAAATGAAATAAAAGACATCCAAATTGGAAAGGAAGAAGTAAAACTATCTCAATTCACACATGAGATGATTTTGTAATGTGGGAAATCCTAAAGAAAACTTTTAGAATAAACAAGTTCAGTAAGGTTGCAGGATACAATATTAACATTAAAAAATCAATTGAGCCAGGCGCAGTGGCTCACGCCTATAATCCCAGCACTTTGGGAGGCCGAGGCGGGTGGATCACGAGGTCAGGAGATCGAGACCATCCTGGCTAACACGGAGAAACCCCATCTCTACTAAAAATACAAATAACTAGCCGGGCATGGTGGCAGGCACCTGTAGTCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCAGGAGACAGAGCTTGCAGTGAGCCAAGATCGGGCCACTGCACACCAGCCTGGGGGACAGAGTAAGACTCCATCTCACAAAAAAAAAAAAAAAAAAAAAGGAAACAATTTGTCAAGCAGGGTAAAAACAATGAAAGGACTGATGAAAGGGAGTACCCAAGGGAGGAAAGAACCAAAAAAGTCATCGGCAGGTTGTTTGGGTAGACATTCTGCAATCTTTCTAAGTTTGGATATTCCTTCTTTTACCAATCTAGATTTGTTTGTAAAGAAACAGCATTCTTGGCTGGGCGCGGTGGCTCACGCCTATAATCCCAGCATTTTGGGAGGCCGAGGCAGGCAGATCACCTGAGGTCAGGAGTTTGAGACCAGCCTGGCCAACATGGAGAAACCCCATCTCTACCAAAAATACAAAATTAGCCAGGCGTGGTGGCACATGCCTATAATCCTAGCTACACAGGAGCAAGAGGCAGGAGAATCGCTTGAACCCGGGAGGCAGAGGTTGTGGTGAGCCGAGATCATGCCATTGCACTCCAGCCTGGGCAACAAGAGCGAAACTCCGTCTCAAAAAAGAAAAATCAATTGAGGCCGAGCACAGTGGTTCATGTCTGTAATCCCAACACTTTGGGAGACTGAAGCAGGAGGAATGCTCAGGCCCAGGAGTTAAGAGACCAGCCCTGACAACATAGTGAGACACTGAGAAAGGAAGGACGGACGGAAGCATGAGAGGGGAGGGGAGAAAGAAAAGGGCCGGGCGCAGTGGCTCACGCCTATAATCCCAGCAATCTGGGAGGCCGAAACAGGTGGACTGCTTGAGAGTCCAGGAGTTCAAGACGAGCCTGGGAAACATAGTGAAACCCTGTCTCTACTAAAAATACAAAAAATTAGCCAGGAGCGGTGGTGCATGCTAATCACAGTTACTTGGGAGGCTCAGGT
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ATCAAGTGTTAGCAGCATATGAGACATATAACTGAATGCTCAAGAAAAATGAGAATGTTGGAGAAGAGCACCTCATTCTAGTTTTAGGGGTTTTTTCCTTTCAGCTGACCCACTTCAAAAGATGTATAGGAGAGCTGGGCACGCTGGCTTGCGCCTGTAAGCCCAGCCACTTGGGGCTGAGATGGAAGAACTTGAGCCCAGTTGTTTGAAACCAGCTGGACCAACACAAGACCTCATCTCTAAAAACATAAATTACCCAGGTGTGGTGGCACATACCTACAGTGCCAGCTATTTGGGAGGCTGAGGTGGAAGGATCACTTGAGCCCAAGAGTTCAAGGCTGCATGATCATGTCACAGCACTGCAGGCCTGGGAGACAAAGTACAATCCCTGTCTCTTTATTTAAGAGAAAAAAAAAAAAGTATGAGAGGCCAAGCAAAGCATTACTTAGACAACAAAAGGAAGCAGAAGATTAAAAAAAAAAACAAAAACAAACCAAAACCAAAATTAAAACCCAAAAAAACCCTCCAATTTCACAAGAGCTTTGTTCCAGTCTTGCCAGAGGGCTTTTAGGACAGAAATGGGGAAGCACTGTTCTCACCATCAATGACAATAAAATAAAACAACTGTGGCAGGCTATTTTATGTTAAAGTAAAAAAAAATCTTTTGGCCGGGCACAGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCCGAGACGGGCAGATCACAAGATCAGGAGATCGAGACCATCCTGGCTAACACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTAGCCAGTCTGGTGGTGGACACCTGTAGTCCCAGCTACTTGGGAGGATGAGGCAGGAGAACAGCGTGAACCCAGGAGGCAGAGCTTGAACTAGTAATCTAATACTGGGACATCTGATTAAATACTTTGACAGAATTTTTGTCAAAGTCCAAGCATACAAAGAAGTTCATCTGAGCATTATCTATATGGCAATGAACTAAACTTCAAATATACGTAAACTTGAAAAGAGCACATATGGCTGGGCAAGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCTGAGGCAGGTGGATCATCTGAGGTCAGGAGCTTGAGACCAGCCTGGCCAACATGGCAAAATTGCATCTTTACAAAATACAAGTATTAGCCAGGCATGGCGGCGTGCGCCTGTAATCCCAGCTACTCTACTCTGGAGGCTGAGGCAAAAGAATTGCTTGAACCCGGGAGGTGGAGGTTGCAGCGAGCTGAGATTGTACCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCTGTCTCAAACAACAAAACAAAACAAAAAAAAAACACATATGCTAAGGACACCATGTCAAATACATATGAATGTAAACAAAGTCTGGATGAGTAGCAGTTAAAAATGAAAAAACAGCCAATCACCTGCGGTCAGGAGTTCATGACCAGCCTGGCCAACGTAGTGAAACCCCATTTCTACTAAAAATACAAAAATCAGCCAGGTGTGGTGGCATATTCCCGTAATCCCAGCTACTGGGGAGGCTGAGGCAGGAGAATCCTTTAAACCTGGGGGAAGGCTGGGCACAGTGGCTCACTCCTGTAATCCCAGCACTTTGGGAGGCTGAGGTGGGTGGATCACCCGAGGTCAGAAGTTTGAGACCAGCCTGGTGAAACCCCATCTCTACTAAACGAAAAATGAGCTCAGCATGGTGGCAACATGCCTGTAATCCCTGCTATTTGGGAGGCTGAGGCAGGAGAATCACTTGAACCTGGGAGGCAGAGGTTGCAGTGAGCCAAGACCGAGCCACTGCACTCTAGCCTGGGCAACAGAATGAGACTCCGTCTCCAAAAAAAAAAAAAGAACAAACTTGGACTAAGATGGCAGGATGAGAATGGATTCTTCTTTCCAACATTTTTGTTATATGGTATACTGAAGAGGCAAAAAGCTCTAATTCTCTACATGCTCCATAAATATTCTAACATGGAAAATGGCATCAGTTGTTATGAAAAGTATACTCACCTGCTTTCCATCCACCTTGATATCTGCCACATAGTTCTCAAACACTGTGGGCACATACACCTCTGGGAACTGGTCCTTGCTGAAGACTATGAGCAAGCATGTCTTTCCACAGGCTCCATCACCAACAATCACCAGTTTCTTCCGGATGGCAGCCATTGCTGAAACACAAAACACAGATATTACCTGCAATGCACAAGAAGTCATAGGTAGCTTACAGGATGACACATGCTTTGGTAACCATGGGGCATAAACCTCTATTAGCATACTCAAATTCAAACTTCTAGTACGCCGATCCACCTGGCACCAAAAGGTTATACATTAAAAACTCGTAACTAACATTATACTTAATGGTAAAAGACTGAAAAAAAGGTCTGCCCCCTAAGATCAGGAACAAGACAAGAATGTCTGTTCTTGCCACTTCTTTTTTTTTTTGAGACGGAGTCTCACTCTGTCGCCCAGGCTGGAGTGCACTGGCCCAATCTCAGTTCACTGCAACCTCCAGCCTCCCGGGTTCAAGCAATTCTCCTGCCTCAGACTCCCAAGTAGCTGGGATTACAGGCACGTACCACCACATCCAGCTAATTTTTGATAGAGATGGGGTTTCACCTTGTTGGCCAGGCTGGTCTTGAACTCCTGACCTCAGGTGATCCACCTGCCTCAGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCACGCCTGGCCTGTTCTTGCTACTTCTATCCAGCAGGATACTGGAGGTCCTAGCCAGGGCAATAAGGTAAGAAAATGAAATAAAAGACATCCAAATTGGAAAGGAAGAAGTAAAACTATCTCAATTCACACATGAGATGATTTTGTAATGTGGGAAATCCTAAAGAAAACTTTTAGAATAAACAAGTTCAGTAAGGTTGCAGGATACAATATTAACATTAAAAAATCAATTGAGCCAGGCGCAGTGGCTCACGCCTATAATCCCAGCACTTTGGGAGGCCGAGGCGGGTGGATCACGAGGTCAGGAGATCGAGACCATCCTGGCTAACACGGAGAAACCCCATCTCTACTAAAAATACAAATAACTAGCCGGGCATGGTGGCAGGCACCTGTAGTCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCAGGAGACAGAGCTTGCAGTGAGCCAAGATCGGGCCACTGCACACCAGCCTGGGGGACAGAGTAAGACTCCATCTCACAAAAAAAAAAAAAAAAAAAAAGGAAACAATTTGTCAAGCAGGGTAAAAACAATGAAAGGACTGATGAAAGGGAGTACCCAAGGGAGGAAAGAACCAAAAAAGTCATCGGCAGGTTGTTTGGGTAGACATTCTGCAATCTTTCTAAGTTTGGATATTCCTTCTTTTACCAATCTAGATTTGTTTGTAAAGAAACAGCATTCTTGGCTGGGCGCGGTGGCTCACGCCTATAATCCCAGCATTTTGGGAGGCCGAGGCAGGCAGATCACCTGAGGTCAGGAGTTTGAGACCAGCCTGGCCAACATGGAGAAACCCCATCTCTACCAAAAATACAAAATTAGCCAGGCGTGGTGGCACATGCCTATAATCCTAGCTACACAGGAGCAAGAGGCAGGAGAATCGCTTGAACCCGGGAGGCAGAGGTTGTGGTGAGCCGAGATCATGCCATTGCACTCCAGCCTGGGCAACAAGAGCGAAACTCCGTCTCAAAAAAGAAAAATCAATTGAGGCCGAGCACAGTGGTTCATGTCTGTAATCCCAACACTTTGGGAGACTGAAGCAGGAGGAATGCTCAGGCCCAGGAGTTAAGAGACCAGCCCTGACAACATAGTGAGACACTGAGAAAGGAAGGACGGACGGAAGCATGAGAGGGGAGGGGAGAAAGAAAAGGGCCGGGCGCAGTGGCTCACGCCTATAATCCCAGCAATCTGGGAGGCCGAAACAGGTGGACTGCTTGAGAGTCCAGGAGTTCAAGACGAGCCTGGGAAACATAGTGAAACCCTGTCTCTACTAAAAATACAAAAAATTAGCCAGGAGCGGTGGTGCATGCTAATCACAGTTACTTGGGAGGCTCAGGT
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Task1_train_7009
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This alteration occurs within gene AMT (aminomethyltransferase) located on Chromosome 3. Is it associated with a disease or is it a benign variant?
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Pathogenic; Inborn genetic diseases
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CTTCTTGGGGGTAAGCTGATTACCTGAAGGACAGCTGAACCCCTGGGGTAGCCTCCTATCCACCACTGCTTAAGTGCCTATGGGAATGTGGGTCTGCACCTTGTCCCCTCATAGGATGGTACCAAGCATTTAGTGCACAGTGGCCCCATCATAGCCTGCAGCCTCATCATTTCCCATCTGGACCTGGTACAAATGCACGTCACAGGCTCAGCTCCTCCCCACTAGCATTTTCTCTACCTTCAAGAACCAGGCAGCCCTGCCATGTCACAATAGGCCAGGGGAGTTTCCAAAGATGTGGGTGGCAAATGCCCCTATAGAAACACCAGTACCTGAAAGCACTGTAGCCCTGGACCTGCCTCCTTCCCTCGGGGCCATACTTCTGTTTCCATCTGCTGGGCCACCAGCCACTTTAGTGACCCCTGCCTACTTCCTTCCTGTTGGATATCATACTTCCATCTGGCTGCCTTTGCTTAAGCCATCTTTGTGGTAGAGGGGCCCTGGAATTGCAGCTGTACTGAGGATGATGTTATTCACAGCCCCTGGCCCACCCACTAATACTACTGCACAGAGTCAGGATCTCACATTTCACCCCAGGCTCAACTGAGGATGTGGCTTATTAAACACGGAAGTGCATCGGTTGTTGTGGTTATTCAGACAGAACAAGGGTGTGCATGCACAGGGGCAGTGAGAGAGGGAACATCCTGGAAGCTGTTGCCCCTTGGGACCCAGATGCAATAACTTGCAGGGAGGGGAGAGGTGATGCAGCTCCCTGGAGGAGCAGGGATGGGGTGCCCAACAGGGGCAATATCTCCATTTTTATAGACTGGCCCCTTTCAAGGAGAACCTATTCCAAGCTTGTCTTGGAGGCCAGGAAGGCAGGCATTGGGTTGGCATTTCAGGAACCCTGTGAACAGAGAACAATGAAGCTAGAGACTGGCAAGTAAGAAGGAAGTTTAATTTTTTTTTCAGGATTCAGTGGAGTCCATTAATGCATACCAGGGGCAAAGATCAGCCCAGGGTAAGGCAAGTCTGGGAGGAAGCCCACCCTGCCCTACAGCAGCCCTGGAACTCAGAATAGGTGGTGAGTCTGCCATGGTTTGCTACTGGGCAGCACACTAGACCAACTTGGGAATGTGGAAGAGTGAGTCTATGTTCCCTCAGCCATCCCCAAGTTTACACACAGGCATAGCAGCCCTACTGTGAGTCAGCAATCATTCCTGACTTGCAGTAAGGACAATTTGCATTTACGGAAAGCAAACTGGAGGGGGTAGCCTAAGTCCGCACTGCCCATGTTATTACCCTTTGCAATGTGAAAAACCATGGTGAGGTAGGTTGGGCAGGTTTTATCCTCTCCACAAAGGTGAGCCTTTGCTCCACAGCCAGCACCTGGCAGAGTGGGAGAGATGGCAGAACCAAAGCTTCTCATTACCCTCCAGCAGGCAAGAGTAGGTCAGTGGGATCATGGACTGAAACAAGACATTGTGTGAGCTGGTCCGTCACTCAGAAGCAGGGTCCTGAAGGAAGCTGGAATGGCATGAGTTAGGTGGGGGGAATAGGTGGTGTGGCCCCTCAACCAGACAATTAGAATCAGCCTCCACCTTAACTGCCCACCCCCAGTGAGTTCTGCCTCAGCTTCTTGACTAACCCCTTGTAGGGGCAAAACTCCTGGAAGGGACAGCCCCACCCTGAGCCAGCTTCACTTGAGGGTATAGTAGTTTGTGGGCACAAAGGGCATCTTGCTGACTACAGCCATCTGCTGCTTCCGCCGCACCTCTACCAGCAGCATTGTCCCTGGACGACTGTACTCGCAGGGCACATAACCCATCGCCACATTCTTCTTCAGAGAGGGGGAGGGGCAGCCACTAGTCACAGTACCTGTCAAGCAAGCATAAGCCACGCATCAGCACCACCCTGCCAGTGCCCCCACCCTCCTGGGAAGAGACAAGGGTTTCCCAGCTTCCCTGGTCCACCTACCAATCTTGGTACCCTCCATGTTCAGGATGGGACTGTGTGCCCGCATGGGGGCCCCCTCACACATCAACCCCACACGCCTCCGCTGCACCCTGCCCTTCAGCTGGGGAACAATGACCTTGGCTCCAGGGAAGTCCATAGCAGCTCGGCGGCGCTTCCCTGGAGAATGACACATGAGACATAAGCCACAGCCCATAGAAGCCCTGGCCACAGGAGGTCCTTATGAGGTCCTCAAGTAACACACTATCTAGCATCAAGGCCCCTTTGCTTGGGCTACTCCAGGCTCTATTCCTCCCTTCACTGCCGTCAGCCAACCAACCACCTCCTATCCCCTGGAGGCCATGCTGCCCACCTGCCGAGCGTCTTCAGTTTCTTTTTTTTTTTTTTGAGATGGAGTCACTCTGTCGCCCAGGCCTAGAATGCAGTGGCACGATCTCAGCTCACTGCAAACTCTGCCTCCCAGGTTCAAGCAATTTACCTGCCTCAGTCTCCCGAGTAGCTGGGATAACAGGCACCCGCCACCACGCCTGGCTAATTTTTATATTTTCAGTAGAGACGGGGTCTCACCATGTTGGCCAGGCTATTCTCGAATTCCTGACCTCATGATCCACCCACCTTGGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACCATGCCCGGCAGCATCTTCAGTTTCTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGGGTCTCGCTCTATCGCCCTGGCTGGAGGTGCAGTGGCGCAATCTCGGCTCACTGCAAACTCCGCCGCCCAGGTTCATGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCGCCCGCCACAATGCCCAGCTAATTTTTTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCATGTTAGCCAGGATGGTCTTGATCTCCTGACCTCGTGATCCACCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGATGTGAGCCACCGCATCCGGCCAACATCTGCAGTTTCTAATGGGCAAAGGCACAGTGGCACCTTCAGGGAAGGGAGGCTCAGGAAGGCTTCAGGCTACATAACCTTTGGATGAGTCATGGGCTGGCTAGTCTTATCAAGGGTCACCCTGACCTCCAGGACCCTATCCTTTAGTGCTGGCCCAGCTCACCCAGTGTCCAACTGAGGCTGCCCTCCACAGGTGTAGTGTGTTCATCAATGTCATTCCCATACAGGCAGAGGCCTGCCTCCAGGCGCAGGCTGTCCCTGGCTGCCAGCCCTGCCAGCTTCACCTCTGGGTTTTTCAGAATAGCTGTTGCCAGGTGAACTGCCCCCGCTACCGGCACCGAGATCTGTATGAAACACCAGAGGGCAGATGGGAAGCTCCCTGTACCACATACCCCCAACCCCTCACATGCATCCTGTGCCCTGTACTGCCCCCACACCACTTCTTGACACACCTCCACACCATCCTCTCCTGTGTAGCCACAGCGGGTCACGCGGCAGCCAGACACGCCAAACACCTCCATCACAGCACTGGTCATGAAGGGCAGTTTCCTCAGGTCATCTGCCACGCCGGCCTGTAGTACCTGGGCTGCAGTGGGGCCTGGGCCCAGGGAGCCAGTGACCAAGTATCCAGGTCCCAGCATCCCTCAAAGCTGGACTAAAGCCTTATTCAGGGACCAGAACAAGCCCTGAGCATGTCTTACTCTGCAAGTGGGAGAAGATGCCCTTGTCCCTAGCCCATGGAGCCTTGTGGTAGGTAGGAGGAGGGCAAGATACAAAACTTAAAATTATGGCACACAAATATCACACCTTCCACACATTCTTCTTGGTATGGCCTCTGTGCTAAGCAGTCAATGAAGCCAGGAAGGCAAAGGTTGGCTCCAACCCCAGCCCAGCCCTCTCACCTTGCAGAGCTAGCAGGGCATTATCCAACACCTCCAGGCCCACATCTCTGCCCTGGTTCTGAAGCTCCCTGACCTTGTCCTAAAAGACAGAAACACAAGAGCATCTGGGGCCACTTACTGAGCAGCTACCATGGGCTGGACGCTGCAGAGCTGGACAGTAGTAGGACAGTGGAGAGGAGGAGGAGGAGGGAGGAAAAAAAAAGGTAGTAGGCTGGTTCCCATCTTACAAG
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CTTCTTGGGGGTAAGCTGATTACCTGAAGGACAGCTGAACCCCTGGGGTAGCCTCCTATCCACCACTGCTTAAGTGCCTATGGGAATGTGGGTCTGCACCTTGTCCCCTCATAGGATGGTACCAAGCATTTAGTGCACAGTGGCCCCATCATAGCCTGCAGCCTCATCATTTCCCATCTGGACCTGGTACAAATGCACGTCACAGGCTCAGCTCCTCCCCACTAGCATTTTCTCTACCTTCAAGAACCAGGCAGCCCTGCCATGTCACAATAGGCCAGGGGAGTTTCCAAAGATGTGGGTGGCAAATGCCCCTATAGAAACACCAGTACCTGAAAGCACTGTAGCCCTGGACCTGCCTCCTTCCCTCGGGGCCATACTTCTGTTTCCATCTGCTGGGCCACCAGCCACTTTAGTGACCCCTGCCTACTTCCTTCCTGTTGGATATCATACTTCCATCTGGCTGCCTTTGCTTAAGCCATCTTTGTGGTAGAGGGGCCCTGGAATTGCAGCTGTACTGAGGATGATGTTATTCACAGCCCCTGGCCCACCCACTAATACTACTGCACAGAGTCAGGATCTCACATTTCACCCCAGGCTCAACTGAGGATGTGGCTTATTAAACACGGAAGTGCATCGGTTGTTGTGGTTATTCAGACAGAACAAGGGTGTGCATGCACAGGGGCAGTGAGAGAGGGAACATCCTGGAAGCTGTTGCCCCTTGGGACCCAGATGCAATAACTTGCAGGGAGGGGAGAGGTGATGCAGCTCCCTGGAGGAGCAGGGATGGGGTGCCCAACAGGGGCAATATCTCCATTTTTATAGACTGGCCCCTTTCAAGGAGAACCTATTCCAAGCTTGTCTTGGAGGCCAGGAAGGCAGGCATTGGGTTGGCATTTCAGGAACCCTGTGAACAGAGAACAATGAAGCTAGAGACTGGCAAGTAAGAAGGAAGTTTAATTTTTTTTTCAGGATTCAGTGGAGTCCATTAATGCATACCAGGGGCAAAGATCAGCCCAGGGTAAGGCAAGTCTGGGAGGAAGCCCACCCTGCCCTACAGCAGCCCTGGAACTCAGAATAGGTGGTGAGTCTGCCATGGTTTGCTACTGGGCAGCACACTAGACCAACTTGGGAATGTGGAAGAGTGAGTCTATGTTCCCTCAGCCATCCCCAAGTTTACACACAGGCATAGCAGCCCTACTGTGAGTCAGCAATCATTCCTGACTTGCAGTAAGGACAATTTGCATTTACGGAAAGCAAACTGGAGGGGGTAGCCTAAGTCCGCACTGCCCATGTTATTACCCTTTGCAATGTGAAAAACCATGGTGAGGTAGGTTGGGCAGGTTTTATCCTCTCCACAAAGGTGAGCCTTTGCTCCACAGCCAGCACCTGGCAGAGTGGGAGAGATGGCAGAACCAAAGCTTCTCATTACCCTCCAGCAGGCAAGAGTAGGTCAGTGGGATCATGGACTGAAACAAGACATTGTGTGAGCTGGTCCGTCACTCAGAAGCAGGGTCCTGAAGGAAGCTGGAATGGCATGAGTTAGGTGGGGGGAATAGGTGGTGTGGCCCCTCAACCAGACAATTAGAATCAGCCTCCACCTTAACTGCCCACCCCCAGTGAGTTCTGCCTCAGCTTCTTGACTAACCCCTTGTAGGGGCAAAACTCCTGGAAGGGACAGCCCCACCCTGAGCCAGCTTCACTTGAGGGTATAGTAGTTTGTGGGCACAAAGGGCATCTTGCTGACTACAGCCATCTGCTGCTTCCGCCGCACCTCTACCAGCAGCATTGTCCCTGGACGACTGTACTCGCAGGGCACATAACCCATCGCCACATTCTTCTTCAGAGAGGGGGAGGGGCAGCCACTAGTCACAGTACCTGTCAAGCAAGCATAAGCCACGCATCAGCACCACCCTGCCAGTGCCCCCACCCTCCTGGGAAGAGACAAGGGTTTCCCAGCTTCCCTGGTCCACCTACCAATCTTGGTACCCTCCATGTTCAGGATGGGACTGTGTGCCCGCATGGGGGCCCCCTCACACATCAACCCCACATGCCTCCGCTGCACCCTGCCCTTCAGCTGGGGAACAATGACCTTGGCTCCAGGGAAGTCCATAGCAGCTCGGCGGCGCTTCCCTGGAGAATGACACATGAGACATAAGCCACAGCCCATAGAAGCCCTGGCCACAGGAGGTCCTTATGAGGTCCTCAAGTAACACACTATCTAGCATCAAGGCCCCTTTGCTTGGGCTACTCCAGGCTCTATTCCTCCCTTCACTGCCGTCAGCCAACCAACCACCTCCTATCCCCTGGAGGCCATGCTGCCCACCTGCCGAGCGTCTTCAGTTTCTTTTTTTTTTTTTTGAGATGGAGTCACTCTGTCGCCCAGGCCTAGAATGCAGTGGCACGATCTCAGCTCACTGCAAACTCTGCCTCCCAGGTTCAAGCAATTTACCTGCCTCAGTCTCCCGAGTAGCTGGGATAACAGGCACCCGCCACCACGCCTGGCTAATTTTTATATTTTCAGTAGAGACGGGGTCTCACCATGTTGGCCAGGCTATTCTCGAATTCCTGACCTCATGATCCACCCACCTTGGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACCATGCCCGGCAGCATCTTCAGTTTCTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGGGTCTCGCTCTATCGCCCTGGCTGGAGGTGCAGTGGCGCAATCTCGGCTCACTGCAAACTCCGCCGCCCAGGTTCATGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCGCCCGCCACAATGCCCAGCTAATTTTTTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCATGTTAGCCAGGATGGTCTTGATCTCCTGACCTCGTGATCCACCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGATGTGAGCCACCGCATCCGGCCAACATCTGCAGTTTCTAATGGGCAAAGGCACAGTGGCACCTTCAGGGAAGGGAGGCTCAGGAAGGCTTCAGGCTACATAACCTTTGGATGAGTCATGGGCTGGCTAGTCTTATCAAGGGTCACCCTGACCTCCAGGACCCTATCCTTTAGTGCTGGCCCAGCTCACCCAGTGTCCAACTGAGGCTGCCCTCCACAGGTGTAGTGTGTTCATCAATGTCATTCCCATACAGGCAGAGGCCTGCCTCCAGGCGCAGGCTGTCCCTGGCTGCCAGCCCTGCCAGCTTCACCTCTGGGTTTTTCAGAATAGCTGTTGCCAGGTGAACTGCCCCCGCTACCGGCACCGAGATCTGTATGAAACACCAGAGGGCAGATGGGAAGCTCCCTGTACCACATACCCCCAACCCCTCACATGCATCCTGTGCCCTGTACTGCCCCCACACCACTTCTTGACACACCTCCACACCATCCTCTCCTGTGTAGCCACAGCGGGTCACGCGGCAGCCAGACACGCCAAACACCTCCATCACAGCACTGGTCATGAAGGGCAGTTTCCTCAGGTCATCTGCCACGCCGGCCTGTAGTACCTGGGCTGCAGTGGGGCCTGGGCCCAGGGAGCCAGTGACCAAGTATCCAGGTCCCAGCATCCCTCAAAGCTGGACTAAAGCCTTATTCAGGGACCAGAACAAGCCCTGAGCATGTCTTACTCTGCAAGTGGGAGAAGATGCCCTTGTCCCTAGCCCATGGAGCCTTGTGGTAGGTAGGAGGAGGGCAAGATACAAAACTTAAAATTATGGCACACAAATATCACACCTTCCACACATTCTTCTTGGTATGGCCTCTGTGCTAAGCAGTCAATGAAGCCAGGAAGGCAAAGGTTGGCTCCAACCCCAGCCCAGCCCTCTCACCTTGCAGAGCTAGCAGGGCATTATCCAACACCTCCAGGCCCACATCTCTGCCCTGGTTCTGAAGCTCCCTGACCTTGTCCTAAAAGACAGAAACACAAGAGCATCTGGGGCCACTTACTGAGCAGCTACCATGGGCTGGACGCTGCAGAGCTGGACAGTAGTAGGACAGTGGAGAGGAGGAGGAGGAGGGAGGAAAAAAAAAGGTAGTAGGCTGGTTCCCATCTTACAAG
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Task1_train_7010
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Gene AMT (aminomethyltransferase) on Chromosome 3 is impacted by this variant. Evaluate whether it is clinically benign or pathogenic and name the disorder if relevant.
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Pathogenic; Glycine encephalopathy
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CTTCTTGGGGGTAAGCTGATTACCTGAAGGACAGCTGAACCCCTGGGGTAGCCTCCTATCCACCACTGCTTAAGTGCCTATGGGAATGTGGGTCTGCACCTTGTCCCCTCATAGGATGGTACCAAGCATTTAGTGCACAGTGGCCCCATCATAGCCTGCAGCCTCATCATTTCCCATCTGGACCTGGTACAAATGCACGTCACAGGCTCAGCTCCTCCCCACTAGCATTTTCTCTACCTTCAAGAACCAGGCAGCCCTGCCATGTCACAATAGGCCAGGGGAGTTTCCAAAGATGTGGGTGGCAAATGCCCCTATAGAAACACCAGTACCTGAAAGCACTGTAGCCCTGGACCTGCCTCCTTCCCTCGGGGCCATACTTCTGTTTCCATCTGCTGGGCCACCAGCCACTTTAGTGACCCCTGCCTACTTCCTTCCTGTTGGATATCATACTTCCATCTGGCTGCCTTTGCTTAAGCCATCTTTGTGGTAGAGGGGCCCTGGAATTGCAGCTGTACTGAGGATGATGTTATTCACAGCCCCTGGCCCACCCACTAATACTACTGCACAGAGTCAGGATCTCACATTTCACCCCAGGCTCAACTGAGGATGTGGCTTATTAAACACGGAAGTGCATCGGTTGTTGTGGTTATTCAGACAGAACAAGGGTGTGCATGCACAGGGGCAGTGAGAGAGGGAACATCCTGGAAGCTGTTGCCCCTTGGGACCCAGATGCAATAACTTGCAGGGAGGGGAGAGGTGATGCAGCTCCCTGGAGGAGCAGGGATGGGGTGCCCAACAGGGGCAATATCTCCATTTTTATAGACTGGCCCCTTTCAAGGAGAACCTATTCCAAGCTTGTCTTGGAGGCCAGGAAGGCAGGCATTGGGTTGGCATTTCAGGAACCCTGTGAACAGAGAACAATGAAGCTAGAGACTGGCAAGTAAGAAGGAAGTTTAATTTTTTTTTCAGGATTCAGTGGAGTCCATTAATGCATACCAGGGGCAAAGATCAGCCCAGGGTAAGGCAAGTCTGGGAGGAAGCCCACCCTGCCCTACAGCAGCCCTGGAACTCAGAATAGGTGGTGAGTCTGCCATGGTTTGCTACTGGGCAGCACACTAGACCAACTTGGGAATGTGGAAGAGTGAGTCTATGTTCCCTCAGCCATCCCCAAGTTTACACACAGGCATAGCAGCCCTACTGTGAGTCAGCAATCATTCCTGACTTGCAGTAAGGACAATTTGCATTTACGGAAAGCAAACTGGAGGGGGTAGCCTAAGTCCGCACTGCCCATGTTATTACCCTTTGCAATGTGAAAAACCATGGTGAGGTAGGTTGGGCAGGTTTTATCCTCTCCACAAAGGTGAGCCTTTGCTCCACAGCCAGCACCTGGCAGAGTGGGAGAGATGGCAGAACCAAAGCTTCTCATTACCCTCCAGCAGGCAAGAGTAGGTCAGTGGGATCATGGACTGAAACAAGACATTGTGTGAGCTGGTCCGTCACTCAGAAGCAGGGTCCTGAAGGAAGCTGGAATGGCATGAGTTAGGTGGGGGGAATAGGTGGTGTGGCCCCTCAACCAGACAATTAGAATCAGCCTCCACCTTAACTGCCCACCCCCAGTGAGTTCTGCCTCAGCTTCTTGACTAACCCCTTGTAGGGGCAAAACTCCTGGAAGGGACAGCCCCACCCTGAGCCAGCTTCACTTGAGGGTATAGTAGTTTGTGGGCACAAAGGGCATCTTGCTGACTACAGCCATCTGCTGCTTCCGCCGCACCTCTACCAGCAGCATTGTCCCTGGACGACTGTACTCGCAGGGCACATAACCCATCGCCACATTCTTCTTCAGAGAGGGGGAGGGGCAGCCACTAGTCACAGTACCTGTCAAGCAAGCATAAGCCACGCATCAGCACCACCCTGCCAGTGCCCCCACCCTCCTGGGAAGAGACAAGGGTTTCCCAGCTTCCCTGGTCCACCTACCAATCTTGGTACCCTCCATGTTCAGGATGGGACTGTGTGCCCGCATGGGGGCCCCCTCACACATCAACCCCACACGCCTCCGCTGCACCCTGCCCTTCAGCTGGGGAACAATGACCTTGGCTCCAGGGAAGTCCATAGCAGCTCGGCGGCGCTTCCCTGGAGAATGACACATGAGACATAAGCCACAGCCCATAGAAGCCCTGGCCACAGGAGGTCCTTATGAGGTCCTCAAGTAACACACTATCTAGCATCAAGGCCCCTTTGCTTGGGCTACTCCAGGCTCTATTCCTCCCTTCACTGCCGTCAGCCAACCAACCACCTCCTATCCCCTGGAGGCCATGCTGCCCACCTGCCGAGCGTCTTCAGTTTCTTTTTTTTTTTTTTGAGATGGAGTCACTCTGTCGCCCAGGCCTAGAATGCAGTGGCACGATCTCAGCTCACTGCAAACTCTGCCTCCCAGGTTCAAGCAATTTACCTGCCTCAGTCTCCCGAGTAGCTGGGATAACAGGCACCCGCCACCACGCCTGGCTAATTTTTATATTTTCAGTAGAGACGGGGTCTCACCATGTTGGCCAGGCTATTCTCGAATTCCTGACCTCATGATCCACCCACCTTGGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACCATGCCCGGCAGCATCTTCAGTTTCTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGGGTCTCGCTCTATCGCCCTGGCTGGAGGTGCAGTGGCGCAATCTCGGCTCACTGCAAACTCCGCCGCCCAGGTTCATGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCGCCCGCCACAATGCCCAGCTAATTTTTTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCATGTTAGCCAGGATGGTCTTGATCTCCTGACCTCGTGATCCACCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGATGTGAGCCACCGCATCCGGCCAACATCTGCAGTTTCTAATGGGCAAAGGCACAGTGGCACCTTCAGGGAAGGGAGGCTCAGGAAGGCTTCAGGCTACATAACCTTTGGATGAGTCATGGGCTGGCTAGTCTTATCAAGGGTCACCCTGACCTCCAGGACCCTATCCTTTAGTGCTGGCCCAGCTCACCCAGTGTCCAACTGAGGCTGCCCTCCACAGGTGTAGTGTGTTCATCAATGTCATTCCCATACAGGCAGAGGCCTGCCTCCAGGCGCAGGCTGTCCCTGGCTGCCAGCCCTGCCAGCTTCACCTCTGGGTTTTTCAGAATAGCTGTTGCCAGGTGAACTGCCCCCGCTACCGGCACCGAGATCTGTATGAAACACCAGAGGGCAGATGGGAAGCTCCCTGTACCACATACCCCCAACCCCTCACATGCATCCTGTGCCCTGTACTGCCCCCACACCACTTCTTGACACACCTCCACACCATCCTCTCCTGTGTAGCCACAGCGGGTCACGCGGCAGCCAGACACGCCAAACACCTCCATCACAGCACTGGTCATGAAGGGCAGTTTCCTCAGGTCATCTGCCACGCCGGCCTGTAGTACCTGGGCTGCAGTGGGGCCTGGGCCCAGGGAGCCAGTGACCAAGTATCCAGGTCCCAGCATCCCTCAAAGCTGGACTAAAGCCTTATTCAGGGACCAGAACAAGCCCTGAGCATGTCTTACTCTGCAAGTGGGAGAAGATGCCCTTGTCCCTAGCCCATGGAGCCTTGTGGTAGGTAGGAGGAGGGCAAGATACAAAACTTAAAATTATGGCACACAAATATCACACCTTCCACACATTCTTCTTGGTATGGCCTCTGTGCTAAGCAGTCAATGAAGCCAGGAAGGCAAAGGTTGGCTCCAACCCCAGCCCAGCCCTCTCACCTTGCAGAGCTAGCAGGGCATTATCCAACACCTCCAGGCCCACATCTCTGCCCTGGTTCTGAAGCTCCCTGACCTTGTCCTAAAAGACAGAAACACAAGAGCATCTGGGGCCACTTACTGAGCAGCTACCATGGGCTGGACGCTGCAGAGCTGGACAGTAGTAGGACAGTGGAGAGGAGGAGGAGGAGGGAGGAAAAAAAAAGGTAGTAGGCTGGTTCCCATCTTACAAG
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CTTCTTGGGGGTAAGCTGATTACCTGAAGGACAGCTGAACCCCTGGGGTAGCCTCCTATCCACCACTGCTTAAGTGCCTATGGGAATGTGGGTCTGCACCTTGTCCCCTCATAGGATGGTACCAAGCATTTAGTGCACAGTGGCCCCATCATAGCCTGCAGCCTCATCATTTCCCATCTGGACCTGGTACAAATGCACGTCACAGGCTCAGCTCCTCCCCACTAGCATTTTCTCTACCTTCAAGAACCAGGCAGCCCTGCCATGTCACAATAGGCCAGGGGAGTTTCCAAAGATGTGGGTGGCAAATGCCCCTATAGAAACACCAGTACCTGAAAGCACTGTAGCCCTGGACCTGCCTCCTTCCCTCGGGGCCATACTTCTGTTTCCATCTGCTGGGCCACCAGCCACTTTAGTGACCCCTGCCTACTTCCTTCCTGTTGGATATCATACTTCCATCTGGCTGCCTTTGCTTAAGCCATCTTTGTGGTAGAGGGGCCCTGGAATTGCAGCTGTACTGAGGATGATGTTATTCACAGCCCCTGGCCCACCCACTAATACTACTGCACAGAGTCAGGATCTCACATTTCACCCCAGGCTCAACTGAGGATGTGGCTTATTAAACACGGAAGTGCATCGGTTGTTGTGGTTATTCAGACAGAACAAGGGTGTGCATGCACAGGGGCAGTGAGAGAGGGAACATCCTGGAAGCTGTTGCCCCTTGGGACCCAGATGCAATAACTTGCAGGGAGGGGAGAGGTGATGCAGCTCCCTGGAGGAGCAGGGATGGGGTGCCCAACAGGGGCAATATCTCCATTTTTATAGACTGGCCCCTTTCAAGGAGAACCTATTCCAAGCTTGTCTTGGAGGCCAGGAAGGCAGGCATTGGGTTGGCATTTCAGGAACCCTGTGAACAGAGAACAATGAAGCTAGAGACTGGCAAGTAAGAAGGAAGTTTAATTTTTTTTTCAGGATTCAGTGGAGTCCATTAATGCATACCAGGGGCAAAGATCAGCCCAGGGTAAGGCAAGTCTGGGAGGAAGCCCACCCTGCCCTACAGCAGCCCTGGAACTCAGAATAGGTGGTGAGTCTGCCATGGTTTGCTACTGGGCAGCACACTAGACCAACTTGGGAATGTGGAAGAGTGAGTCTATGTTCCCTCAGCCATCCCCAAGTTTACACACAGGCATAGCAGCCCTACTGTGAGTCAGCAATCATTCCTGACTTGCAGTAAGGACAATTTGCATTTACGGAAAGCAAACTGGAGGGGGTAGCCTAAGTCCGCACTGCCCATGTTATTACCCTTTGCAATGTGAAAAACCATGGTGAGGTAGGTTGGGCAGGTTTTATCCTCTCCACAAAGGTGAGCCTTTGCTCCACAGCCAGCACCTGGCAGAGTGGGAGAGATGGCAGAACCAAAGCTTCTCATTACCCTCCAGCAGGCAAGAGTAGGTCAGTGGGATCATGGACTGAAACAAGACATTGTGTGAGCTGGTCCGTCACTCAGAAGCAGGGTCCTGAAGGAAGCTGGAATGGCATGAGTTAGGTGGGGGGAATAGGTGGTGTGGCCCCTCAACCAGACAATTAGAATCAGCCTCCACCTTAACTGCCCACCCCCAGTGAGTTCTGCCTCAGCTTCTTGACTAACCCCTTGTAGGGGCAAAACTCCTGGAAGGGACAGCCCCACCCTGAGCCAGCTTCACTTGAGGGTATAGTAGTTTGTGGGCACAAAGGGCATCTTGCTGACTACAGCCATCTGCTGCTTCCGCCGCACCTCTACCAGCAGCATTGTCCCTGGACGACTGTACTCGCAGGGCACATAACCCATCGCCACATTCTTCTTCAGAGAGGGGGAGGGGCAGCCACTAGTCACAGTACCTGTCAAGCAAGCATAAGCCACGCATCAGCACCACCCTGCCAGTGCCCCCACCCTCCTGGGAAGAGACAAGGGTTTCCCAGCTTCCCTGGTCCACCTACCAATCTTGGTACCCTCCATGTTCAGGATGGGACTGTGTGCCCGCATGGGGGCCCCCTCACACATCAACCCCACATGCCTCCGCTGCACCCTGCCCTTCAGCTGGGGAACAATGACCTTGGCTCCAGGGAAGTCCATAGCAGCTCGGCGGCGCTTCCCTGGAGAATGACACATGAGACATAAGCCACAGCCCATAGAAGCCCTGGCCACAGGAGGTCCTTATGAGGTCCTCAAGTAACACACTATCTAGCATCAAGGCCCCTTTGCTTGGGCTACTCCAGGCTCTATTCCTCCCTTCACTGCCGTCAGCCAACCAACCACCTCCTATCCCCTGGAGGCCATGCTGCCCACCTGCCGAGCGTCTTCAGTTTCTTTTTTTTTTTTTTGAGATGGAGTCACTCTGTCGCCCAGGCCTAGAATGCAGTGGCACGATCTCAGCTCACTGCAAACTCTGCCTCCCAGGTTCAAGCAATTTACCTGCCTCAGTCTCCCGAGTAGCTGGGATAACAGGCACCCGCCACCACGCCTGGCTAATTTTTATATTTTCAGTAGAGACGGGGTCTCACCATGTTGGCCAGGCTATTCTCGAATTCCTGACCTCATGATCCACCCACCTTGGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACCATGCCCGGCAGCATCTTCAGTTTCTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGGGTCTCGCTCTATCGCCCTGGCTGGAGGTGCAGTGGCGCAATCTCGGCTCACTGCAAACTCCGCCGCCCAGGTTCATGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCGCCCGCCACAATGCCCAGCTAATTTTTTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCATGTTAGCCAGGATGGTCTTGATCTCCTGACCTCGTGATCCACCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGATGTGAGCCACCGCATCCGGCCAACATCTGCAGTTTCTAATGGGCAAAGGCACAGTGGCACCTTCAGGGAAGGGAGGCTCAGGAAGGCTTCAGGCTACATAACCTTTGGATGAGTCATGGGCTGGCTAGTCTTATCAAGGGTCACCCTGACCTCCAGGACCCTATCCTTTAGTGCTGGCCCAGCTCACCCAGTGTCCAACTGAGGCTGCCCTCCACAGGTGTAGTGTGTTCATCAATGTCATTCCCATACAGGCAGAGGCCTGCCTCCAGGCGCAGGCTGTCCCTGGCTGCCAGCCCTGCCAGCTTCACCTCTGGGTTTTTCAGAATAGCTGTTGCCAGGTGAACTGCCCCCGCTACCGGCACCGAGATCTGTATGAAACACCAGAGGGCAGATGGGAAGCTCCCTGTACCACATACCCCCAACCCCTCACATGCATCCTGTGCCCTGTACTGCCCCCACACCACTTCTTGACACACCTCCACACCATCCTCTCCTGTGTAGCCACAGCGGGTCACGCGGCAGCCAGACACGCCAAACACCTCCATCACAGCACTGGTCATGAAGGGCAGTTTCCTCAGGTCATCTGCCACGCCGGCCTGTAGTACCTGGGCTGCAGTGGGGCCTGGGCCCAGGGAGCCAGTGACCAAGTATCCAGGTCCCAGCATCCCTCAAAGCTGGACTAAAGCCTTATTCAGGGACCAGAACAAGCCCTGAGCATGTCTTACTCTGCAAGTGGGAGAAGATGCCCTTGTCCCTAGCCCATGGAGCCTTGTGGTAGGTAGGAGGAGGGCAAGATACAAAACTTAAAATTATGGCACACAAATATCACACCTTCCACACATTCTTCTTGGTATGGCCTCTGTGCTAAGCAGTCAATGAAGCCAGGAAGGCAAAGGTTGGCTCCAACCCCAGCCCAGCCCTCTCACCTTGCAGAGCTAGCAGGGCATTATCCAACACCTCCAGGCCCACATCTCTGCCCTGGTTCTGAAGCTCCCTGACCTTGTCCTAAAAGACAGAAACACAAGAGCATCTGGGGCCACTTACTGAGCAGCTACCATGGGCTGGACGCTGCAGAGCTGGACAGTAGTAGGACAGTGGAGAGGAGGAGGAGGAGGGAGGAAAAAAAAAGGTAGTAGGCTGGTTCCCATCTTACAAG
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Task1_train_7011
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The variant affects gene AMT (aminomethyltransferase), which is on Chromosome 3. Please evaluate whether this mutation is benign or pathogenic and specify the disease if necessary.
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Pathogenic; Glycine encephalopathy 1
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CTTCTTGGGGGTAAGCTGATTACCTGAAGGACAGCTGAACCCCTGGGGTAGCCTCCTATCCACCACTGCTTAAGTGCCTATGGGAATGTGGGTCTGCACCTTGTCCCCTCATAGGATGGTACCAAGCATTTAGTGCACAGTGGCCCCATCATAGCCTGCAGCCTCATCATTTCCCATCTGGACCTGGTACAAATGCACGTCACAGGCTCAGCTCCTCCCCACTAGCATTTTCTCTACCTTCAAGAACCAGGCAGCCCTGCCATGTCACAATAGGCCAGGGGAGTTTCCAAAGATGTGGGTGGCAAATGCCCCTATAGAAACACCAGTACCTGAAAGCACTGTAGCCCTGGACCTGCCTCCTTCCCTCGGGGCCATACTTCTGTTTCCATCTGCTGGGCCACCAGCCACTTTAGTGACCCCTGCCTACTTCCTTCCTGTTGGATATCATACTTCCATCTGGCTGCCTTTGCTTAAGCCATCTTTGTGGTAGAGGGGCCCTGGAATTGCAGCTGTACTGAGGATGATGTTATTCACAGCCCCTGGCCCACCCACTAATACTACTGCACAGAGTCAGGATCTCACATTTCACCCCAGGCTCAACTGAGGATGTGGCTTATTAAACACGGAAGTGCATCGGTTGTTGTGGTTATTCAGACAGAACAAGGGTGTGCATGCACAGGGGCAGTGAGAGAGGGAACATCCTGGAAGCTGTTGCCCCTTGGGACCCAGATGCAATAACTTGCAGGGAGGGGAGAGGTGATGCAGCTCCCTGGAGGAGCAGGGATGGGGTGCCCAACAGGGGCAATATCTCCATTTTTATAGACTGGCCCCTTTCAAGGAGAACCTATTCCAAGCTTGTCTTGGAGGCCAGGAAGGCAGGCATTGGGTTGGCATTTCAGGAACCCTGTGAACAGAGAACAATGAAGCTAGAGACTGGCAAGTAAGAAGGAAGTTTAATTTTTTTTTCAGGATTCAGTGGAGTCCATTAATGCATACCAGGGGCAAAGATCAGCCCAGGGTAAGGCAAGTCTGGGAGGAAGCCCACCCTGCCCTACAGCAGCCCTGGAACTCAGAATAGGTGGTGAGTCTGCCATGGTTTGCTACTGGGCAGCACACTAGACCAACTTGGGAATGTGGAAGAGTGAGTCTATGTTCCCTCAGCCATCCCCAAGTTTACACACAGGCATAGCAGCCCTACTGTGAGTCAGCAATCATTCCTGACTTGCAGTAAGGACAATTTGCATTTACGGAAAGCAAACTGGAGGGGGTAGCCTAAGTCCGCACTGCCCATGTTATTACCCTTTGCAATGTGAAAAACCATGGTGAGGTAGGTTGGGCAGGTTTTATCCTCTCCACAAAGGTGAGCCTTTGCTCCACAGCCAGCACCTGGCAGAGTGGGAGAGATGGCAGAACCAAAGCTTCTCATTACCCTCCAGCAGGCAAGAGTAGGTCAGTGGGATCATGGACTGAAACAAGACATTGTGTGAGCTGGTCCGTCACTCAGAAGCAGGGTCCTGAAGGAAGCTGGAATGGCATGAGTTAGGTGGGGGGAATAGGTGGTGTGGCCCCTCAACCAGACAATTAGAATCAGCCTCCACCTTAACTGCCCACCCCCAGTGAGTTCTGCCTCAGCTTCTTGACTAACCCCTTGTAGGGGCAAAACTCCTGGAAGGGACAGCCCCACCCTGAGCCAGCTTCACTTGAGGGTATAGTAGTTTGTGGGCACAAAGGGCATCTTGCTGACTACAGCCATCTGCTGCTTCCGCCGCACCTCTACCAGCAGCATTGTCCCTGGACGACTGTACTCGCAGGGCACATAACCCATCGCCACATTCTTCTTCAGAGAGGGGGAGGGGCAGCCACTAGTCACAGTACCTGTCAAGCAAGCATAAGCCACGCATCAGCACCACCCTGCCAGTGCCCCCACCCTCCTGGGAAGAGACAAGGGTTTCCCAGCTTCCCTGGTCCACCTACCAATCTTGGTACCCTCCATGTTCAGGATGGGACTGTGTGCCCGCATGGGGGCCCCCTCACACATCAACCCCACACGCCTCCGCTGCACCCTGCCCTTCAGCTGGGGAACAATGACCTTGGCTCCAGGGAAGTCCATAGCAGCTCGGCGGCGCTTCCCTGGAGAATGACACATGAGACATAAGCCACAGCCCATAGAAGCCCTGGCCACAGGAGGTCCTTATGAGGTCCTCAAGTAACACACTATCTAGCATCAAGGCCCCTTTGCTTGGGCTACTCCAGGCTCTATTCCTCCCTTCACTGCCGTCAGCCAACCAACCACCTCCTATCCCCTGGAGGCCATGCTGCCCACCTGCCGAGCGTCTTCAGTTTCTTTTTTTTTTTTTTGAGATGGAGTCACTCTGTCGCCCAGGCCTAGAATGCAGTGGCACGATCTCAGCTCACTGCAAACTCTGCCTCCCAGGTTCAAGCAATTTACCTGCCTCAGTCTCCCGAGTAGCTGGGATAACAGGCACCCGCCACCACGCCTGGCTAATTTTTATATTTTCAGTAGAGACGGGGTCTCACCATGTTGGCCAGGCTATTCTCGAATTCCTGACCTCATGATCCACCCACCTTGGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACCATGCCCGGCAGCATCTTCAGTTTCTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGGGTCTCGCTCTATCGCCCTGGCTGGAGGTGCAGTGGCGCAATCTCGGCTCACTGCAAACTCCGCCGCCCAGGTTCATGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCGCCCGCCACAATGCCCAGCTAATTTTTTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCATGTTAGCCAGGATGGTCTTGATCTCCTGACCTCGTGATCCACCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGATGTGAGCCACCGCATCCGGCCAACATCTGCAGTTTCTAATGGGCAAAGGCACAGTGGCACCTTCAGGGAAGGGAGGCTCAGGAAGGCTTCAGGCTACATAACCTTTGGATGAGTCATGGGCTGGCTAGTCTTATCAAGGGTCACCCTGACCTCCAGGACCCTATCCTTTAGTGCTGGCCCAGCTCACCCAGTGTCCAACTGAGGCTGCCCTCCACAGGTGTAGTGTGTTCATCAATGTCATTCCCATACAGGCAGAGGCCTGCCTCCAGGCGCAGGCTGTCCCTGGCTGCCAGCCCTGCCAGCTTCACCTCTGGGTTTTTCAGAATAGCTGTTGCCAGGTGAACTGCCCCCGCTACCGGCACCGAGATCTGTATGAAACACCAGAGGGCAGATGGGAAGCTCCCTGTACCACATACCCCCAACCCCTCACATGCATCCTGTGCCCTGTACTGCCCCCACACCACTTCTTGACACACCTCCACACCATCCTCTCCTGTGTAGCCACAGCGGGTCACGCGGCAGCCAGACACGCCAAACACCTCCATCACAGCACTGGTCATGAAGGGCAGTTTCCTCAGGTCATCTGCCACGCCGGCCTGTAGTACCTGGGCTGCAGTGGGGCCTGGGCCCAGGGAGCCAGTGACCAAGTATCCAGGTCCCAGCATCCCTCAAAGCTGGACTAAAGCCTTATTCAGGGACCAGAACAAGCCCTGAGCATGTCTTACTCTGCAAGTGGGAGAAGATGCCCTTGTCCCTAGCCCATGGAGCCTTGTGGTAGGTAGGAGGAGGGCAAGATACAAAACTTAAAATTATGGCACACAAATATCACACCTTCCACACATTCTTCTTGGTATGGCCTCTGTGCTAAGCAGTCAATGAAGCCAGGAAGGCAAAGGTTGGCTCCAACCCCAGCCCAGCCCTCTCACCTTGCAGAGCTAGCAGGGCATTATCCAACACCTCCAGGCCCACATCTCTGCCCTGGTTCTGAAGCTCCCTGACCTTGTCCTAAAAGACAGAAACACAAGAGCATCTGGGGCCACTTACTGAGCAGCTACCATGGGCTGGACGCTGCAGAGCTGGACAGTAGTAGGACAGTGGAGAGGAGGAGGAGGAGGGAGGAAAAAAAAAGGTAGTAGGCTGGTTCCCATCTTACAAG
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CTTCTTGGGGGTAAGCTGATTACCTGAAGGACAGCTGAACCCCTGGGGTAGCCTCCTATCCACCACTGCTTAAGTGCCTATGGGAATGTGGGTCTGCACCTTGTCCCCTCATAGGATGGTACCAAGCATTTAGTGCACAGTGGCCCCATCATAGCCTGCAGCCTCATCATTTCCCATCTGGACCTGGTACAAATGCACGTCACAGGCTCAGCTCCTCCCCACTAGCATTTTCTCTACCTTCAAGAACCAGGCAGCCCTGCCATGTCACAATAGGCCAGGGGAGTTTCCAAAGATGTGGGTGGCAAATGCCCCTATAGAAACACCAGTACCTGAAAGCACTGTAGCCCTGGACCTGCCTCCTTCCCTCGGGGCCATACTTCTGTTTCCATCTGCTGGGCCACCAGCCACTTTAGTGACCCCTGCCTACTTCCTTCCTGTTGGATATCATACTTCCATCTGGCTGCCTTTGCTTAAGCCATCTTTGTGGTAGAGGGGCCCTGGAATTGCAGCTGTACTGAGGATGATGTTATTCACAGCCCCTGGCCCACCCACTAATACTACTGCACAGAGTCAGGATCTCACATTTCACCCCAGGCTCAACTGAGGATGTGGCTTATTAAACACGGAAGTGCATCGGTTGTTGTGGTTATTCAGACAGAACAAGGGTGTGCATGCACAGGGGCAGTGAGAGAGGGAACATCCTGGAAGCTGTTGCCCCTTGGGACCCAGATGCAATAACTTGCAGGGAGGGGAGAGGTGATGCAGCTCCCTGGAGGAGCAGGGATGGGGTGCCCAACAGGGGCAATATCTCCATTTTTATAGACTGGCCCCTTTCAAGGAGAACCTATTCCAAGCTTGTCTTGGAGGCCAGGAAGGCAGGCATTGGGTTGGCATTTCAGGAACCCTGTGAACAGAGAACAATGAAGCTAGAGACTGGCAAGTAAGAAGGAAGTTTAATTTTTTTTTCAGGATTCAGTGGAGTCCATTAATGCATACCAGGGGCAAAGATCAGCCCAGGGTAAGGCAAGTCTGGGAGGAAGCCCACCCTGCCCTACAGCAGCCCTGGAACTCAGAATAGGTGGTGAGTCTGCCATGGTTTGCTACTGGGCAGCACACTAGACCAACTTGGGAATGTGGAAGAGTGAGTCTATGTTCCCTCAGCCATCCCCAAGTTTACACACAGGCATAGCAGCCCTACTGTGAGTCAGCAATCATTCCTGACTTGCAGTAAGGACAATTTGCATTTACGGAAAGCAAACTGGAGGGGGTAGCCTAAGTCCGCACTGCCCATGTTATTACCCTTTGCAATGTGAAAAACCATGGTGAGGTAGGTTGGGCAGGTTTTATCCTCTCCACAAAGGTGAGCCTTTGCTCCACAGCCAGCACCTGGCAGAGTGGGAGAGATGGCAGAACCAAAGCTTCTCATTACCCTCCAGCAGGCAAGAGTAGGTCAGTGGGATCATGGACTGAAACAAGACATTGTGTGAGCTGGTCCGTCACTCAGAAGCAGGGTCCTGAAGGAAGCTGGAATGGCATGAGTTAGGTGGGGGGAATAGGTGGTGTGGCCCCTCAACCAGACAATTAGAATCAGCCTCCACCTTAACTGCCCACCCCCAGTGAGTTCTGCCTCAGCTTCTTGACTAACCCCTTGTAGGGGCAAAACTCCTGGAAGGGACAGCCCCACCCTGAGCCAGCTTCACTTGAGGGTATAGTAGTTTGTGGGCACAAAGGGCATCTTGCTGACTACAGCCATCTGCTGCTTCCGCCGCACCTCTACCAGCAGCATTGTCCCTGGACGACTGTACTCGCAGGGCACATAACCCATCGCCACATTCTTCTTCAGAGAGGGGGAGGGGCAGCCACTAGTCACAGTACCTGTCAAGCAAGCATAAGCCACGCATCAGCACCACCCTGCCAGTGCCCCCACCCTCCTGGGAAGAGACAAGGGTTTCCCAGCTTCCCTGGTCCACCTACCAATCTTGGTACCCTCCATGTTCAGGATGGGACTGTGTGCCCGCATGGGGGCCCCCTCACACATCAACCCCACATGCCTCCGCTGCACCCTGCCCTTCAGCTGGGGAACAATGACCTTGGCTCCAGGGAAGTCCATAGCAGCTCGGCGGCGCTTCCCTGGAGAATGACACATGAGACATAAGCCACAGCCCATAGAAGCCCTGGCCACAGGAGGTCCTTATGAGGTCCTCAAGTAACACACTATCTAGCATCAAGGCCCCTTTGCTTGGGCTACTCCAGGCTCTATTCCTCCCTTCACTGCCGTCAGCCAACCAACCACCTCCTATCCCCTGGAGGCCATGCTGCCCACCTGCCGAGCGTCTTCAGTTTCTTTTTTTTTTTTTTGAGATGGAGTCACTCTGTCGCCCAGGCCTAGAATGCAGTGGCACGATCTCAGCTCACTGCAAACTCTGCCTCCCAGGTTCAAGCAATTTACCTGCCTCAGTCTCCCGAGTAGCTGGGATAACAGGCACCCGCCACCACGCCTGGCTAATTTTTATATTTTCAGTAGAGACGGGGTCTCACCATGTTGGCCAGGCTATTCTCGAATTCCTGACCTCATGATCCACCCACCTTGGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACCATGCCCGGCAGCATCTTCAGTTTCTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGGGTCTCGCTCTATCGCCCTGGCTGGAGGTGCAGTGGCGCAATCTCGGCTCACTGCAAACTCCGCCGCCCAGGTTCATGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCGCCCGCCACAATGCCCAGCTAATTTTTTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCATGTTAGCCAGGATGGTCTTGATCTCCTGACCTCGTGATCCACCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGATGTGAGCCACCGCATCCGGCCAACATCTGCAGTTTCTAATGGGCAAAGGCACAGTGGCACCTTCAGGGAAGGGAGGCTCAGGAAGGCTTCAGGCTACATAACCTTTGGATGAGTCATGGGCTGGCTAGTCTTATCAAGGGTCACCCTGACCTCCAGGACCCTATCCTTTAGTGCTGGCCCAGCTCACCCAGTGTCCAACTGAGGCTGCCCTCCACAGGTGTAGTGTGTTCATCAATGTCATTCCCATACAGGCAGAGGCCTGCCTCCAGGCGCAGGCTGTCCCTGGCTGCCAGCCCTGCCAGCTTCACCTCTGGGTTTTTCAGAATAGCTGTTGCCAGGTGAACTGCCCCCGCTACCGGCACCGAGATCTGTATGAAACACCAGAGGGCAGATGGGAAGCTCCCTGTACCACATACCCCCAACCCCTCACATGCATCCTGTGCCCTGTACTGCCCCCACACCACTTCTTGACACACCTCCACACCATCCTCTCCTGTGTAGCCACAGCGGGTCACGCGGCAGCCAGACACGCCAAACACCTCCATCACAGCACTGGTCATGAAGGGCAGTTTCCTCAGGTCATCTGCCACGCCGGCCTGTAGTACCTGGGCTGCAGTGGGGCCTGGGCCCAGGGAGCCAGTGACCAAGTATCCAGGTCCCAGCATCCCTCAAAGCTGGACTAAAGCCTTATTCAGGGACCAGAACAAGCCCTGAGCATGTCTTACTCTGCAAGTGGGAGAAGATGCCCTTGTCCCTAGCCCATGGAGCCTTGTGGTAGGTAGGAGGAGGGCAAGATACAAAACTTAAAATTATGGCACACAAATATCACACCTTCCACACATTCTTCTTGGTATGGCCTCTGTGCTAAGCAGTCAATGAAGCCAGGAAGGCAAAGGTTGGCTCCAACCCCAGCCCAGCCCTCTCACCTTGCAGAGCTAGCAGGGCATTATCCAACACCTCCAGGCCCACATCTCTGCCCTGGTTCTGAAGCTCCCTGACCTTGTCCTAAAAGACAGAAACACAAGAGCATCTGGGGCCACTTACTGAGCAGCTACCATGGGCTGGACGCTGCAGAGCTGGACAGTAGTAGGACAGTGGAGAGGAGGAGGAGGAGGGAGGAAAAAAAAAGGTAGTAGGCTGGTTCCCATCTTACAAG
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Task1_train_7012
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A sequence alteration has been identified in AMT (aminomethyltransferase) on Chromosome 3. Is it disease-inducing or harmless?
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Pathogenic; Glycine encephalopathy 2
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CTTCTTGGGGGTAAGCTGATTACCTGAAGGACAGCTGAACCCCTGGGGTAGCCTCCTATCCACCACTGCTTAAGTGCCTATGGGAATGTGGGTCTGCACCTTGTCCCCTCATAGGATGGTACCAAGCATTTAGTGCACAGTGGCCCCATCATAGCCTGCAGCCTCATCATTTCCCATCTGGACCTGGTACAAATGCACGTCACAGGCTCAGCTCCTCCCCACTAGCATTTTCTCTACCTTCAAGAACCAGGCAGCCCTGCCATGTCACAATAGGCCAGGGGAGTTTCCAAAGATGTGGGTGGCAAATGCCCCTATAGAAACACCAGTACCTGAAAGCACTGTAGCCCTGGACCTGCCTCCTTCCCTCGGGGCCATACTTCTGTTTCCATCTGCTGGGCCACCAGCCACTTTAGTGACCCCTGCCTACTTCCTTCCTGTTGGATATCATACTTCCATCTGGCTGCCTTTGCTTAAGCCATCTTTGTGGTAGAGGGGCCCTGGAATTGCAGCTGTACTGAGGATGATGTTATTCACAGCCCCTGGCCCACCCACTAATACTACTGCACAGAGTCAGGATCTCACATTTCACCCCAGGCTCAACTGAGGATGTGGCTTATTAAACACGGAAGTGCATCGGTTGTTGTGGTTATTCAGACAGAACAAGGGTGTGCATGCACAGGGGCAGTGAGAGAGGGAACATCCTGGAAGCTGTTGCCCCTTGGGACCCAGATGCAATAACTTGCAGGGAGGGGAGAGGTGATGCAGCTCCCTGGAGGAGCAGGGATGGGGTGCCCAACAGGGGCAATATCTCCATTTTTATAGACTGGCCCCTTTCAAGGAGAACCTATTCCAAGCTTGTCTTGGAGGCCAGGAAGGCAGGCATTGGGTTGGCATTTCAGGAACCCTGTGAACAGAGAACAATGAAGCTAGAGACTGGCAAGTAAGAAGGAAGTTTAATTTTTTTTTCAGGATTCAGTGGAGTCCATTAATGCATACCAGGGGCAAAGATCAGCCCAGGGTAAGGCAAGTCTGGGAGGAAGCCCACCCTGCCCTACAGCAGCCCTGGAACTCAGAATAGGTGGTGAGTCTGCCATGGTTTGCTACTGGGCAGCACACTAGACCAACTTGGGAATGTGGAAGAGTGAGTCTATGTTCCCTCAGCCATCCCCAAGTTTACACACAGGCATAGCAGCCCTACTGTGAGTCAGCAATCATTCCTGACTTGCAGTAAGGACAATTTGCATTTACGGAAAGCAAACTGGAGGGGGTAGCCTAAGTCCGCACTGCCCATGTTATTACCCTTTGCAATGTGAAAAACCATGGTGAGGTAGGTTGGGCAGGTTTTATCCTCTCCACAAAGGTGAGCCTTTGCTCCACAGCCAGCACCTGGCAGAGTGGGAGAGATGGCAGAACCAAAGCTTCTCATTACCCTCCAGCAGGCAAGAGTAGGTCAGTGGGATCATGGACTGAAACAAGACATTGTGTGAGCTGGTCCGTCACTCAGAAGCAGGGTCCTGAAGGAAGCTGGAATGGCATGAGTTAGGTGGGGGGAATAGGTGGTGTGGCCCCTCAACCAGACAATTAGAATCAGCCTCCACCTTAACTGCCCACCCCCAGTGAGTTCTGCCTCAGCTTCTTGACTAACCCCTTGTAGGGGCAAAACTCCTGGAAGGGACAGCCCCACCCTGAGCCAGCTTCACTTGAGGGTATAGTAGTTTGTGGGCACAAAGGGCATCTTGCTGACTACAGCCATCTGCTGCTTCCGCCGCACCTCTACCAGCAGCATTGTCCCTGGACGACTGTACTCGCAGGGCACATAACCCATCGCCACATTCTTCTTCAGAGAGGGGGAGGGGCAGCCACTAGTCACAGTACCTGTCAAGCAAGCATAAGCCACGCATCAGCACCACCCTGCCAGTGCCCCCACCCTCCTGGGAAGAGACAAGGGTTTCCCAGCTTCCCTGGTCCACCTACCAATCTTGGTACCCTCCATGTTCAGGATGGGACTGTGTGCCCGCATGGGGGCCCCCTCACACATCAACCCCACACGCCTCCGCTGCACCCTGCCCTTCAGCTGGGGAACAATGACCTTGGCTCCAGGGAAGTCCATAGCAGCTCGGCGGCGCTTCCCTGGAGAATGACACATGAGACATAAGCCACAGCCCATAGAAGCCCTGGCCACAGGAGGTCCTTATGAGGTCCTCAAGTAACACACTATCTAGCATCAAGGCCCCTTTGCTTGGGCTACTCCAGGCTCTATTCCTCCCTTCACTGCCGTCAGCCAACCAACCACCTCCTATCCCCTGGAGGCCATGCTGCCCACCTGCCGAGCGTCTTCAGTTTCTTTTTTTTTTTTTTGAGATGGAGTCACTCTGTCGCCCAGGCCTAGAATGCAGTGGCACGATCTCAGCTCACTGCAAACTCTGCCTCCCAGGTTCAAGCAATTTACCTGCCTCAGTCTCCCGAGTAGCTGGGATAACAGGCACCCGCCACCACGCCTGGCTAATTTTTATATTTTCAGTAGAGACGGGGTCTCACCATGTTGGCCAGGCTATTCTCGAATTCCTGACCTCATGATCCACCCACCTTGGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACCATGCCCGGCAGCATCTTCAGTTTCTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGGGTCTCGCTCTATCGCCCTGGCTGGAGGTGCAGTGGCGCAATCTCGGCTCACTGCAAACTCCGCCGCCCAGGTTCATGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCGCCCGCCACAATGCCCAGCTAATTTTTTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCATGTTAGCCAGGATGGTCTTGATCTCCTGACCTCGTGATCCACCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGATGTGAGCCACCGCATCCGGCCAACATCTGCAGTTTCTAATGGGCAAAGGCACAGTGGCACCTTCAGGGAAGGGAGGCTCAGGAAGGCTTCAGGCTACATAACCTTTGGATGAGTCATGGGCTGGCTAGTCTTATCAAGGGTCACCCTGACCTCCAGGACCCTATCCTTTAGTGCTGGCCCAGCTCACCCAGTGTCCAACTGAGGCTGCCCTCCACAGGTGTAGTGTGTTCATCAATGTCATTCCCATACAGGCAGAGGCCTGCCTCCAGGCGCAGGCTGTCCCTGGCTGCCAGCCCTGCCAGCTTCACCTCTGGGTTTTTCAGAATAGCTGTTGCCAGGTGAACTGCCCCCGCTACCGGCACCGAGATCTGTATGAAACACCAGAGGGCAGATGGGAAGCTCCCTGTACCACATACCCCCAACCCCTCACATGCATCCTGTGCCCTGTACTGCCCCCACACCACTTCTTGACACACCTCCACACCATCCTCTCCTGTGTAGCCACAGCGGGTCACGCGGCAGCCAGACACGCCAAACACCTCCATCACAGCACTGGTCATGAAGGGCAGTTTCCTCAGGTCATCTGCCACGCCGGCCTGTAGTACCTGGGCTGCAGTGGGGCCTGGGCCCAGGGAGCCAGTGACCAAGTATCCAGGTCCCAGCATCCCTCAAAGCTGGACTAAAGCCTTATTCAGGGACCAGAACAAGCCCTGAGCATGTCTTACTCTGCAAGTGGGAGAAGATGCCCTTGTCCCTAGCCCATGGAGCCTTGTGGTAGGTAGGAGGAGGGCAAGATACAAAACTTAAAATTATGGCACACAAATATCACACCTTCCACACATTCTTCTTGGTATGGCCTCTGTGCTAAGCAGTCAATGAAGCCAGGAAGGCAAAGGTTGGCTCCAACCCCAGCCCAGCCCTCTCACCTTGCAGAGCTAGCAGGGCATTATCCAACACCTCCAGGCCCACATCTCTGCCCTGGTTCTGAAGCTCCCTGACCTTGTCCTAAAAGACAGAAACACAAGAGCATCTGGGGCCACTTACTGAGCAGCTACCATGGGCTGGACGCTGCAGAGCTGGACAGTAGTAGGACAGTGGAGAGGAGGAGGAGGAGGGAGGAAAAAAAAAGGTAGTAGGCTGGTTCCCATCTTACAAG
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CTTCTTGGGGGTAAGCTGATTACCTGAAGGACAGCTGAACCCCTGGGGTAGCCTCCTATCCACCACTGCTTAAGTGCCTATGGGAATGTGGGTCTGCACCTTGTCCCCTCATAGGATGGTACCAAGCATTTAGTGCACAGTGGCCCCATCATAGCCTGCAGCCTCATCATTTCCCATCTGGACCTGGTACAAATGCACGTCACAGGCTCAGCTCCTCCCCACTAGCATTTTCTCTACCTTCAAGAACCAGGCAGCCCTGCCATGTCACAATAGGCCAGGGGAGTTTCCAAAGATGTGGGTGGCAAATGCCCCTATAGAAACACCAGTACCTGAAAGCACTGTAGCCCTGGACCTGCCTCCTTCCCTCGGGGCCATACTTCTGTTTCCATCTGCTGGGCCACCAGCCACTTTAGTGACCCCTGCCTACTTCCTTCCTGTTGGATATCATACTTCCATCTGGCTGCCTTTGCTTAAGCCATCTTTGTGGTAGAGGGGCCCTGGAATTGCAGCTGTACTGAGGATGATGTTATTCACAGCCCCTGGCCCACCCACTAATACTACTGCACAGAGTCAGGATCTCACATTTCACCCCAGGCTCAACTGAGGATGTGGCTTATTAAACACGGAAGTGCATCGGTTGTTGTGGTTATTCAGACAGAACAAGGGTGTGCATGCACAGGGGCAGTGAGAGAGGGAACATCCTGGAAGCTGTTGCCCCTTGGGACCCAGATGCAATAACTTGCAGGGAGGGGAGAGGTGATGCAGCTCCCTGGAGGAGCAGGGATGGGGTGCCCAACAGGGGCAATATCTCCATTTTTATAGACTGGCCCCTTTCAAGGAGAACCTATTCCAAGCTTGTCTTGGAGGCCAGGAAGGCAGGCATTGGGTTGGCATTTCAGGAACCCTGTGAACAGAGAACAATGAAGCTAGAGACTGGCAAGTAAGAAGGAAGTTTAATTTTTTTTTCAGGATTCAGTGGAGTCCATTAATGCATACCAGGGGCAAAGATCAGCCCAGGGTAAGGCAAGTCTGGGAGGAAGCCCACCCTGCCCTACAGCAGCCCTGGAACTCAGAATAGGTGGTGAGTCTGCCATGGTTTGCTACTGGGCAGCACACTAGACCAACTTGGGAATGTGGAAGAGTGAGTCTATGTTCCCTCAGCCATCCCCAAGTTTACACACAGGCATAGCAGCCCTACTGTGAGTCAGCAATCATTCCTGACTTGCAGTAAGGACAATTTGCATTTACGGAAAGCAAACTGGAGGGGGTAGCCTAAGTCCGCACTGCCCATGTTATTACCCTTTGCAATGTGAAAAACCATGGTGAGGTAGGTTGGGCAGGTTTTATCCTCTCCACAAAGGTGAGCCTTTGCTCCACAGCCAGCACCTGGCAGAGTGGGAGAGATGGCAGAACCAAAGCTTCTCATTACCCTCCAGCAGGCAAGAGTAGGTCAGTGGGATCATGGACTGAAACAAGACATTGTGTGAGCTGGTCCGTCACTCAGAAGCAGGGTCCTGAAGGAAGCTGGAATGGCATGAGTTAGGTGGGGGGAATAGGTGGTGTGGCCCCTCAACCAGACAATTAGAATCAGCCTCCACCTTAACTGCCCACCCCCAGTGAGTTCTGCCTCAGCTTCTTGACTAACCCCTTGTAGGGGCAAAACTCCTGGAAGGGACAGCCCCACCCTGAGCCAGCTTCACTTGAGGGTATAGTAGTTTGTGGGCACAAAGGGCATCTTGCTGACTACAGCCATCTGCTGCTTCCGCCGCACCTCTACCAGCAGCATTGTCCCTGGACGACTGTACTCGCAGGGCACATAACCCATCGCCACATTCTTCTTCAGAGAGGGGGAGGGGCAGCCACTAGTCACAGTACCTGTCAAGCAAGCATAAGCCACGCATCAGCACCACCCTGCCAGTGCCCCCACCCTCCTGGGAAGAGACAAGGGTTTCCCAGCTTCCCTGGTCCACCTACCAATCTTGGTACCCTCCATGTTCAGGATGGGACTGTGTGCCCGCATGGGGGCCCCCTCACACATCAACCCCACATGCCTCCGCTGCACCCTGCCCTTCAGCTGGGGAACAATGACCTTGGCTCCAGGGAAGTCCATAGCAGCTCGGCGGCGCTTCCCTGGAGAATGACACATGAGACATAAGCCACAGCCCATAGAAGCCCTGGCCACAGGAGGTCCTTATGAGGTCCTCAAGTAACACACTATCTAGCATCAAGGCCCCTTTGCTTGGGCTACTCCAGGCTCTATTCCTCCCTTCACTGCCGTCAGCCAACCAACCACCTCCTATCCCCTGGAGGCCATGCTGCCCACCTGCCGAGCGTCTTCAGTTTCTTTTTTTTTTTTTTGAGATGGAGTCACTCTGTCGCCCAGGCCTAGAATGCAGTGGCACGATCTCAGCTCACTGCAAACTCTGCCTCCCAGGTTCAAGCAATTTACCTGCCTCAGTCTCCCGAGTAGCTGGGATAACAGGCACCCGCCACCACGCCTGGCTAATTTTTATATTTTCAGTAGAGACGGGGTCTCACCATGTTGGCCAGGCTATTCTCGAATTCCTGACCTCATGATCCACCCACCTTGGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACCATGCCCGGCAGCATCTTCAGTTTCTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGGGTCTCGCTCTATCGCCCTGGCTGGAGGTGCAGTGGCGCAATCTCGGCTCACTGCAAACTCCGCCGCCCAGGTTCATGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCGCCCGCCACAATGCCCAGCTAATTTTTTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCATGTTAGCCAGGATGGTCTTGATCTCCTGACCTCGTGATCCACCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGATGTGAGCCACCGCATCCGGCCAACATCTGCAGTTTCTAATGGGCAAAGGCACAGTGGCACCTTCAGGGAAGGGAGGCTCAGGAAGGCTTCAGGCTACATAACCTTTGGATGAGTCATGGGCTGGCTAGTCTTATCAAGGGTCACCCTGACCTCCAGGACCCTATCCTTTAGTGCTGGCCCAGCTCACCCAGTGTCCAACTGAGGCTGCCCTCCACAGGTGTAGTGTGTTCATCAATGTCATTCCCATACAGGCAGAGGCCTGCCTCCAGGCGCAGGCTGTCCCTGGCTGCCAGCCCTGCCAGCTTCACCTCTGGGTTTTTCAGAATAGCTGTTGCCAGGTGAACTGCCCCCGCTACCGGCACCGAGATCTGTATGAAACACCAGAGGGCAGATGGGAAGCTCCCTGTACCACATACCCCCAACCCCTCACATGCATCCTGTGCCCTGTACTGCCCCCACACCACTTCTTGACACACCTCCACACCATCCTCTCCTGTGTAGCCACAGCGGGTCACGCGGCAGCCAGACACGCCAAACACCTCCATCACAGCACTGGTCATGAAGGGCAGTTTCCTCAGGTCATCTGCCACGCCGGCCTGTAGTACCTGGGCTGCAGTGGGGCCTGGGCCCAGGGAGCCAGTGACCAAGTATCCAGGTCCCAGCATCCCTCAAAGCTGGACTAAAGCCTTATTCAGGGACCAGAACAAGCCCTGAGCATGTCTTACTCTGCAAGTGGGAGAAGATGCCCTTGTCCCTAGCCCATGGAGCCTTGTGGTAGGTAGGAGGAGGGCAAGATACAAAACTTAAAATTATGGCACACAAATATCACACCTTCCACACATTCTTCTTGGTATGGCCTCTGTGCTAAGCAGTCAATGAAGCCAGGAAGGCAAAGGTTGGCTCCAACCCCAGCCCAGCCCTCTCACCTTGCAGAGCTAGCAGGGCATTATCCAACACCTCCAGGCCCACATCTCTGCCCTGGTTCTGAAGCTCCCTGACCTTGTCCTAAAAGACAGAAACACAAGAGCATCTGGGGCCACTTACTGAGCAGCTACCATGGGCTGGACGCTGCAGAGCTGGACAGTAGTAGGACAGTGGAGAGGAGGAGGAGGAGGGAGGAAAAAAAAAGGTAGTAGGCTGGTTCCCATCTTACAAG
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Task1_train_7013
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The gene AMT (aminomethyltransferase) on Chromosome 3 contains a mutation. Based on this information, is the variant pathogenic or benign? Provide the disease if relevant.
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Pathogenic; Glycine encephalopathy
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AGCACACTAGACCAACTTGGGAATGTGGAAGAGTGAGTCTATGTTCCCTCAGCCATCCCCAAGTTTACACACAGGCATAGCAGCCCTACTGTGAGTCAGCAATCATTCCTGACTTGCAGTAAGGACAATTTGCATTTACGGAAAGCAAACTGGAGGGGGTAGCCTAAGTCCGCACTGCCCATGTTATTACCCTTTGCAATGTGAAAAACCATGGTGAGGTAGGTTGGGCAGGTTTTATCCTCTCCACAAAGGTGAGCCTTTGCTCCACAGCCAGCACCTGGCAGAGTGGGAGAGATGGCAGAACCAAAGCTTCTCATTACCCTCCAGCAGGCAAGAGTAGGTCAGTGGGATCATGGACTGAAACAAGACATTGTGTGAGCTGGTCCGTCACTCAGAAGCAGGGTCCTGAAGGAAGCTGGAATGGCATGAGTTAGGTGGGGGGAATAGGTGGTGTGGCCCCTCAACCAGACAATTAGAATCAGCCTCCACCTTAACTGCCCACCCCCAGTGAGTTCTGCCTCAGCTTCTTGACTAACCCCTTGTAGGGGCAAAACTCCTGGAAGGGACAGCCCCACCCTGAGCCAGCTTCACTTGAGGGTATAGTAGTTTGTGGGCACAAAGGGCATCTTGCTGACTACAGCCATCTGCTGCTTCCGCCGCACCTCTACCAGCAGCATTGTCCCTGGACGACTGTACTCGCAGGGCACATAACCCATCGCCACATTCTTCTTCAGAGAGGGGGAGGGGCAGCCACTAGTCACAGTACCTGTCAAGCAAGCATAAGCCACGCATCAGCACCACCCTGCCAGTGCCCCCACCCTCCTGGGAAGAGACAAGGGTTTCCCAGCTTCCCTGGTCCACCTACCAATCTTGGTACCCTCCATGTTCAGGATGGGACTGTGTGCCCGCATGGGGGCCCCCTCACACATCAACCCCACACGCCTCCGCTGCACCCTGCCCTTCAGCTGGGGAACAATGACCTTGGCTCCAGGGAAGTCCATAGCAGCTCGGCGGCGCTTCCCTGGAGAATGACACATGAGACATAAGCCACAGCCCATAGAAGCCCTGGCCACAGGAGGTCCTTATGAGGTCCTCAAGTAACACACTATCTAGCATCAAGGCCCCTTTGCTTGGGCTACTCCAGGCTCTATTCCTCCCTTCACTGCCGTCAGCCAACCAACCACCTCCTATCCCCTGGAGGCCATGCTGCCCACCTGCCGAGCGTCTTCAGTTTCTTTTTTTTTTTTTTGAGATGGAGTCACTCTGTCGCCCAGGCCTAGAATGCAGTGGCACGATCTCAGCTCACTGCAAACTCTGCCTCCCAGGTTCAAGCAATTTACCTGCCTCAGTCTCCCGAGTAGCTGGGATAACAGGCACCCGCCACCACGCCTGGCTAATTTTTATATTTTCAGTAGAGACGGGGTCTCACCATGTTGGCCAGGCTATTCTCGAATTCCTGACCTCATGATCCACCCACCTTGGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACCATGCCCGGCAGCATCTTCAGTTTCTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGGGTCTCGCTCTATCGCCCTGGCTGGAGGTGCAGTGGCGCAATCTCGGCTCACTGCAAACTCCGCCGCCCAGGTTCATGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCGCCCGCCACAATGCCCAGCTAATTTTTTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCATGTTAGCCAGGATGGTCTTGATCTCCTGACCTCGTGATCCACCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGATGTGAGCCACCGCATCCGGCCAACATCTGCAGTTTCTAATGGGCAAAGGCACAGTGGCACCTTCAGGGAAGGGAGGCTCAGGAAGGCTTCAGGCTACATAACCTTTGGATGAGTCATGGGCTGGCTAGTCTTATCAAGGGTCACCCTGACCTCCAGGACCCTATCCTTTAGTGCTGGCCCAGCTCACCCAGTGTCCAACTGAGGCTGCCCTCCACAGGTGTAGTGTGTTCATCAATGTCATTCCCATACAGGCAGAGGCCTGCCTCCAGGCGCAGGCTGTCCCTGGCTGCCAGCCCTGCCAGCTTCACCTCTGGGTTTTTCAGAATAGCTGTTGCCAGGTGAACTGCCCCCGCTACCGGCACCGAGATCTGTATGAAACACCAGAGGGCAGATGGGAAGCTCCCTGTACCACATACCCCCAACCCCTCACATGCATCCTGTGCCCTGTACTGCCCCCACACCACTTCTTGACACACCTCCACACCATCCTCTCCTGTGTAGCCACAGCGGGTCACGCGGCAGCCAGACACGCCAAACACCTCCATCACAGCACTGGTCATGAAGGGCAGTTTCCTCAGGTCATCTGCCACGCCGGCCTGTAGTACCTGGGCTGCAGTGGGGCCTGGGCCCAGGGAGCCAGTGACCAAGTATCCAGGTCCCAGCATCCCTCAAAGCTGGACTAAAGCCTTATTCAGGGACCAGAACAAGCCCTGAGCATGTCTTACTCTGCAAGTGGGAGAAGATGCCCTTGTCCCTAGCCCATGGAGCCTTGTGGTAGGTAGGAGGAGGGCAAGATACAAAACTTAAAATTATGGCACACAAATATCACACCTTCCACACATTCTTCTTGGTATGGCCTCTGTGCTAAGCAGTCAATGAAGCCAGGAAGGCAAAGGTTGGCTCCAACCCCAGCCCAGCCCTCTCACCTTGCAGAGCTAGCAGGGCATTATCCAACACCTCCAGGCCCACATCTCTGCCCTGGTTCTGAAGCTCCCTGACCTTGTCCTAAAAGACAGAAACACAAGAGCATCTGGGGCCACTTACTGAGCAGCTACCATGGGCTGGACGCTGCAGAGCTGGACAGTAGTAGGACAGTGGAGAGGAGGAGGAGGAGGGAGGAAAAAAAAAGGTAGTAGGCTGGTTCCCATCTTACAAGGTCACATAGCTACTAAGTGATAGAGATGACCCAAGCCCAGTTCTGCCACCTCACACCAGAGGGGCCAAGACCCCCTCCCCATGCCTGGTAATCCCCCACCACCAAACCCTGGCGTGCTCCAGAGAGGGCCTGCTCTTGAGTCTCATAGCTGTTCATTCACTGAAAGAGCCATTTTCCAGGTCCCTTGTCTGTGCCAACCCTGTCTTGGACAACAAGGATACTGCTCTATGAACAAGGAAGACAAGGTGTCTAGAACACAGAGGGGGTATACCTGCATGAGGGCCAAATCTTTCTCCCAGCAGCCAGCGTTGGACACCACATACAGGTGGCCCTCAGAAGTATTGGTTACAATCAAGTCATCTAAGATGCCTCCAGCCTCGTTGGTAAACAGCGACAGTGTCCCCTAGGACCAAAGTGGAGCGTTTTGGCTTCCAGGTCCAGGAGGGCAAGGCCAAGGGTGAGCCAGACACAACCCTGGACCCACTTAGTTACCAAAAGGTTATGAACCCTAATGTGAAGGACTCAGGGTGTGCAAGGTACAAGTCTGGGCCCAAGTCCAAGGTCTTTGATCCTCATGCATCAAGTAAGTTTTCATCCCCTCCCTACCTTGGGGTGCTTCCCTGATCTGGTGCAACCTCTGCACCCCTCCCCACTCTGTACTGAGAGTCCCATCTGACACTTAATCTATGACACCTAGGACCTGCTGCTTCACCTACCCAAACCTGGGACGACTTAGCCCATGTGGCAACCCACAGGACAAAAGCTTCAAAGGTCATCTTGATGATCGCAGGCTCTCCTAAGTACTCCATAGCAATGCCCCCAAAAAACTTCCTTAGCCTCCCCACTGGATGGACAAAAAGCCTGAGGTTGAGGGGGTCACATGAATCACCTGGGGATCTTGTTAAAATGAAGGTTCTGATTCAGCAGGTCTGCAGCAGTGCCTGAGACTATATTCCTAACAAGCTCCAAAGATGCTGGTTTAGAGACCACACTTTGTTGTTGTTATTTTTCTTTTTAGACTGAGTCTCACTCTGTTGCCCAGGCCAGAGTGCAGTGGTGCAACCTCAGCTTGCTGCAACCTCAGCCTCCCGAGTAGCTGGGACTACAAG
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AGCACACTAGACCAACTTGGGAATGTGGAAGAGTGAGTCTATGTTCCCTCAGCCATCCCCAAGTTTACACACAGGCATAGCAGCCCTACTGTGAGTCAGCAATCATTCCTGACTTGCAGTAAGGACAATTTGCATTTACGGAAAGCAAACTGGAGGGGGTAGCCTAAGTCCGCACTGCCCATGTTATTACCCTTTGCAATGTGAAAAACCATGGTGAGGTAGGTTGGGCAGGTTTTATCCTCTCCACAAAGGTGAGCCTTTGCTCCACAGCCAGCACCTGGCAGAGTGGGAGAGATGGCAGAACCAAAGCTTCTCATTACCCTCCAGCAGGCAAGAGTAGGTCAGTGGGATCATGGACTGAAACAAGACATTGTGTGAGCTGGTCCGTCACTCAGAAGCAGGGTCCTGAAGGAAGCTGGAATGGCATGAGTTAGGTGGGGGGAATAGGTGGTGTGGCCCCTCAACCAGACAATTAGAATCAGCCTCCACCTTAACTGCCCACCCCCAGTGAGTTCTGCCTCAGCTTCTTGACTAACCCCTTGTAGGGGCAAAACTCCTGGAAGGGACAGCCCCACCCTGAGCCAGCTTCACTTGAGGGTATAGTAGTTTGTGGGCACAAAGGGCATCTTGCTGACTACAGCCATCTGCTGCTTCCGCCGCACCTCTACCAGCAGCATTGTCCCTGGACGACTGTACTCGCAGGGCACATAACCCATCGCCACATTCTTCTTCAGAGAGGGGGAGGGGCAGCCACTAGTCACAGTACCTGTCAAGCAAGCATAAGCCACGCATCAGCACCACCCTGCCAGTGCCCCCACCCTCCTGGGAAGAGACAAGGGTTTCCCAGCTTCCCTGGTCCACCTACCAATCTTGGTACCCTCCATGTTCAGGATGGGACTGTGTGCCCGCATGGGGGCCCCCTCACACATCAACCCCACACGCCTCCGCTGCACCCTGCCCTTCAGCTGGGGAACAATGACCTTGGCTCCAGGGAAGTCCATAGCAGCTCGGCGGCGCTTCCCTGGAGAATGACACATGAGACATAAGCCACAGCCCATAGAAGCCCTGGCCACAGGAGGTCCTTATGAGGTCCTCAAGTAACACACTATCTAGCATCAAGGCCCCTTTGCTTGGGCTACTCCAGGCTCTATTCCTCCCTTCACTGCCGTCAGCCAACCAACCACCTCCTATCCCCTGGAGGCCATGCTGCCCACCTGCCGAGCGTCTTCAGTTTCTTTTTTTTTTTTTTGAGATGGAGTCACTCTGTCGCCCAGGCCTAGAATGCAGTGGCACGATCTCAGCTCACTGCAAACTCTGCCTCCCAGGTTCAAGCAATTTACCTGCCTCAGTCTCCCGAGTAGCTGGGATAACAGGCACCCGCCACCACGCCTGGCTAATTTTTATATTTTCAGTAGAGACGGGGTCTCACCATGTTGGCCAGGCTATTCTCGAATTCCTGACCTCATGATCCACCCACCTTGGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACCATGCCCGGCAGCATCTTCAGTTTCTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGGGTCTCGCTCTATCGCCCTGGCTGGAGGTGCAGTGGCGCAATCTCGGCTCACTGCAAACTCCGCCGCCCAGGTTCATGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCGCCCGCCACAATGCCCAGCTAATTTTTTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCATGTTAGCCAGGATGGTCTTGATCTCCTGACCTCGTGATCCACCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGATGTGAGCCACCGCATCCGGCCAACATCTGCAGTTTCTAATGGGCAAAGGCACAGTGGCACCTTCAGGGAAGGGAGGCTCAGGAAGGCTTCAGGCTACATAACCTTTGGATGAGTCATGGGCTGGCTAGTCTTATCAAGGGTCACCCTGACCTCCAGGACCCTATCCTTTAGTGCTGGCCCAGCTCACCCAGTGTCCAACTGAGGCTGCCCTCCACAGATGTAGTGTGTTCATCAATGTCATTCCCATACAGGCAGAGGCCTGCCTCCAGGCGCAGGCTGTCCCTGGCTGCCAGCCCTGCCAGCTTCACCTCTGGGTTTTTCAGAATAGCTGTTGCCAGGTGAACTGCCCCCGCTACCGGCACCGAGATCTGTATGAAACACCAGAGGGCAGATGGGAAGCTCCCTGTACCACATACCCCCAACCCCTCACATGCATCCTGTGCCCTGTACTGCCCCCACACCACTTCTTGACACACCTCCACACCATCCTCTCCTGTGTAGCCACAGCGGGTCACGCGGCAGCCAGACACGCCAAACACCTCCATCACAGCACTGGTCATGAAGGGCAGTTTCCTCAGGTCATCTGCCACGCCGGCCTGTAGTACCTGGGCTGCAGTGGGGCCTGGGCCCAGGGAGCCAGTGACCAAGTATCCAGGTCCCAGCATCCCTCAAAGCTGGACTAAAGCCTTATTCAGGGACCAGAACAAGCCCTGAGCATGTCTTACTCTGCAAGTGGGAGAAGATGCCCTTGTCCCTAGCCCATGGAGCCTTGTGGTAGGTAGGAGGAGGGCAAGATACAAAACTTAAAATTATGGCACACAAATATCACACCTTCCACACATTCTTCTTGGTATGGCCTCTGTGCTAAGCAGTCAATGAAGCCAGGAAGGCAAAGGTTGGCTCCAACCCCAGCCCAGCCCTCTCACCTTGCAGAGCTAGCAGGGCATTATCCAACACCTCCAGGCCCACATCTCTGCCCTGGTTCTGAAGCTCCCTGACCTTGTCCTAAAAGACAGAAACACAAGAGCATCTGGGGCCACTTACTGAGCAGCTACCATGGGCTGGACGCTGCAGAGCTGGACAGTAGTAGGACAGTGGAGAGGAGGAGGAGGAGGGAGGAAAAAAAAAGGTAGTAGGCTGGTTCCCATCTTACAAGGTCACATAGCTACTAAGTGATAGAGATGACCCAAGCCCAGTTCTGCCACCTCACACCAGAGGGGCCAAGACCCCCTCCCCATGCCTGGTAATCCCCCACCACCAAACCCTGGCGTGCTCCAGAGAGGGCCTGCTCTTGAGTCTCATAGCTGTTCATTCACTGAAAGAGCCATTTTCCAGGTCCCTTGTCTGTGCCAACCCTGTCTTGGACAACAAGGATACTGCTCTATGAACAAGGAAGACAAGGTGTCTAGAACACAGAGGGGGTATACCTGCATGAGGGCCAAATCTTTCTCCCAGCAGCCAGCGTTGGACACCACATACAGGTGGCCCTCAGAAGTATTGGTTACAATCAAGTCATCTAAGATGCCTCCAGCCTCGTTGGTAAACAGCGACAGTGTCCCCTAGGACCAAAGTGGAGCGTTTTGGCTTCCAGGTCCAGGAGGGCAAGGCCAAGGGTGAGCCAGACACAACCCTGGACCCACTTAGTTACCAAAAGGTTATGAACCCTAATGTGAAGGACTCAGGGTGTGCAAGGTACAAGTCTGGGCCCAAGTCCAAGGTCTTTGATCCTCATGCATCAAGTAAGTTTTCATCCCCTCCCTACCTTGGGGTGCTTCCCTGATCTGGTGCAACCTCTGCACCCCTCCCCACTCTGTACTGAGAGTCCCATCTGACACTTAATCTATGACACCTAGGACCTGCTGCTTCACCTACCCAAACCTGGGACGACTTAGCCCATGTGGCAACCCACAGGACAAAAGCTTCAAAGGTCATCTTGATGATCGCAGGCTCTCCTAAGTACTCCATAGCAATGCCCCCAAAAAACTTCCTTAGCCTCCCCACTGGATGGACAAAAAGCCTGAGGTTGAGGGGGTCACATGAATCACCTGGGGATCTTGTTAAAATGAAGGTTCTGATTCAGCAGGTCTGCAGCAGTGCCTGAGACTATATTCCTAACAAGCTCCAAAGATGCTGGTTTAGAGACCACACTTTGTTGTTGTTATTTTTCTTTTTAGACTGAGTCTCACTCTGTTGCCCAGGCCAGAGTGCAGTGGTGCAACCTCAGCTTGCTGCAACCTCAGCCTCCCGAGTAGCTGGGACTACAAG
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Task1_train_7014
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This mutation is located in gene AMT (aminomethyltransferase) on Chromosome 3. Is it associated with a disease or is it a benign polymorphism?
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Pathogenic; Glycine encephalopathy
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AGAGATGGCAGAACCAAAGCTTCTCATTACCCTCCAGCAGGCAAGAGTAGGTCAGTGGGATCATGGACTGAAACAAGACATTGTGTGAGCTGGTCCGTCACTCAGAAGCAGGGTCCTGAAGGAAGCTGGAATGGCATGAGTTAGGTGGGGGGAATAGGTGGTGTGGCCCCTCAACCAGACAATTAGAATCAGCCTCCACCTTAACTGCCCACCCCCAGTGAGTTCTGCCTCAGCTTCTTGACTAACCCCTTGTAGGGGCAAAACTCCTGGAAGGGACAGCCCCACCCTGAGCCAGCTTCACTTGAGGGTATAGTAGTTTGTGGGCACAAAGGGCATCTTGCTGACTACAGCCATCTGCTGCTTCCGCCGCACCTCTACCAGCAGCATTGTCCCTGGACGACTGTACTCGCAGGGCACATAACCCATCGCCACATTCTTCTTCAGAGAGGGGGAGGGGCAGCCACTAGTCACAGTACCTGTCAAGCAAGCATAAGCCACGCATCAGCACCACCCTGCCAGTGCCCCCACCCTCCTGGGAAGAGACAAGGGTTTCCCAGCTTCCCTGGTCCACCTACCAATCTTGGTACCCTCCATGTTCAGGATGGGACTGTGTGCCCGCATGGGGGCCCCCTCACACATCAACCCCACACGCCTCCGCTGCACCCTGCCCTTCAGCTGGGGAACAATGACCTTGGCTCCAGGGAAGTCCATAGCAGCTCGGCGGCGCTTCCCTGGAGAATGACACATGAGACATAAGCCACAGCCCATAGAAGCCCTGGCCACAGGAGGTCCTTATGAGGTCCTCAAGTAACACACTATCTAGCATCAAGGCCCCTTTGCTTGGGCTACTCCAGGCTCTATTCCTCCCTTCACTGCCGTCAGCCAACCAACCACCTCCTATCCCCTGGAGGCCATGCTGCCCACCTGCCGAGCGTCTTCAGTTTCTTTTTTTTTTTTTTGAGATGGAGTCACTCTGTCGCCCAGGCCTAGAATGCAGTGGCACGATCTCAGCTCACTGCAAACTCTGCCTCCCAGGTTCAAGCAATTTACCTGCCTCAGTCTCCCGAGTAGCTGGGATAACAGGCACCCGCCACCACGCCTGGCTAATTTTTATATTTTCAGTAGAGACGGGGTCTCACCATGTTGGCCAGGCTATTCTCGAATTCCTGACCTCATGATCCACCCACCTTGGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACCATGCCCGGCAGCATCTTCAGTTTCTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGGGTCTCGCTCTATCGCCCTGGCTGGAGGTGCAGTGGCGCAATCTCGGCTCACTGCAAACTCCGCCGCCCAGGTTCATGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCGCCCGCCACAATGCCCAGCTAATTTTTTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCATGTTAGCCAGGATGGTCTTGATCTCCTGACCTCGTGATCCACCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGATGTGAGCCACCGCATCCGGCCAACATCTGCAGTTTCTAATGGGCAAAGGCACAGTGGCACCTTCAGGGAAGGGAGGCTCAGGAAGGCTTCAGGCTACATAACCTTTGGATGAGTCATGGGCTGGCTAGTCTTATCAAGGGTCACCCTGACCTCCAGGACCCTATCCTTTAGTGCTGGCCCAGCTCACCCAGTGTCCAACTGAGGCTGCCCTCCACAGGTGTAGTGTGTTCATCAATGTCATTCCCATACAGGCAGAGGCCTGCCTCCAGGCGCAGGCTGTCCCTGGCTGCCAGCCCTGCCAGCTTCACCTCTGGGTTTTTCAGAATAGCTGTTGCCAGGTGAACTGCCCCCGCTACCGGCACCGAGATCTGTATGAAACACCAGAGGGCAGATGGGAAGCTCCCTGTACCACATACCCCCAACCCCTCACATGCATCCTGTGCCCTGTACTGCCCCCACACCACTTCTTGACACACCTCCACACCATCCTCTCCTGTGTAGCCACAGCGGGTCACGCGGCAGCCAGACACGCCAAACACCTCCATCACAGCACTGGTCATGAAGGGCAGTTTCCTCAGGTCATCTGCCACGCCGGCCTGTAGTACCTGGGCTGCAGTGGGGCCTGGGCCCAGGGAGCCAGTGACCAAGTATCCAGGTCCCAGCATCCCTCAAAGCTGGACTAAAGCCTTATTCAGGGACCAGAACAAGCCCTGAGCATGTCTTACTCTGCAAGTGGGAGAAGATGCCCTTGTCCCTAGCCCATGGAGCCTTGTGGTAGGTAGGAGGAGGGCAAGATACAAAACTTAAAATTATGGCACACAAATATCACACCTTCCACACATTCTTCTTGGTATGGCCTCTGTGCTAAGCAGTCAATGAAGCCAGGAAGGCAAAGGTTGGCTCCAACCCCAGCCCAGCCCTCTCACCTTGCAGAGCTAGCAGGGCATTATCCAACACCTCCAGGCCCACATCTCTGCCCTGGTTCTGAAGCTCCCTGACCTTGTCCTAAAAGACAGAAACACAAGAGCATCTGGGGCCACTTACTGAGCAGCTACCATGGGCTGGACGCTGCAGAGCTGGACAGTAGTAGGACAGTGGAGAGGAGGAGGAGGAGGGAGGAAAAAAAAAGGTAGTAGGCTGGTTCCCATCTTACAAGGTCACATAGCTACTAAGTGATAGAGATGACCCAAGCCCAGTTCTGCCACCTCACACCAGAGGGGCCAAGACCCCCTCCCCATGCCTGGTAATCCCCCACCACCAAACCCTGGCGTGCTCCAGAGAGGGCCTGCTCTTGAGTCTCATAGCTGTTCATTCACTGAAAGAGCCATTTTCCAGGTCCCTTGTCTGTGCCAACCCTGTCTTGGACAACAAGGATACTGCTCTATGAACAAGGAAGACAAGGTGTCTAGAACACAGAGGGGGTATACCTGCATGAGGGCCAAATCTTTCTCCCAGCAGCCAGCGTTGGACACCACATACAGGTGGCCCTCAGAAGTATTGGTTACAATCAAGTCATCTAAGATGCCTCCAGCCTCGTTGGTAAACAGCGACAGTGTCCCCTAGGACCAAAGTGGAGCGTTTTGGCTTCCAGGTCCAGGAGGGCAAGGCCAAGGGTGAGCCAGACACAACCCTGGACCCACTTAGTTACCAAAAGGTTATGAACCCTAATGTGAAGGACTCAGGGTGTGCAAGGTACAAGTCTGGGCCCAAGTCCAAGGTCTTTGATCCTCATGCATCAAGTAAGTTTTCATCCCCTCCCTACCTTGGGGTGCTTCCCTGATCTGGTGCAACCTCTGCACCCCTCCCCACTCTGTACTGAGAGTCCCATCTGACACTTAATCTATGACACCTAGGACCTGCTGCTTCACCTACCCAAACCTGGGACGACTTAGCCCATGTGGCAACCCACAGGACAAAAGCTTCAAAGGTCATCTTGATGATCGCAGGCTCTCCTAAGTACTCCATAGCAATGCCCCCAAAAAACTTCCTTAGCCTCCCCACTGGATGGACAAAAAGCCTGAGGTTGAGGGGGTCACATGAATCACCTGGGGATCTTGTTAAAATGAAGGTTCTGATTCAGCAGGTCTGCAGCAGTGCCTGAGACTATATTCCTAACAAGCTCCAAAGATGCTGGTTTAGAGACCACACTTTGTTGTTGTTATTTTTCTTTTTAGACTGAGTCTCACTCTGTTGCCCAGGCCAGAGTGCAGTGGTGCAACCTCAGCTTGCTGCAACCTCAGCCTCCCGAGTAGCTGGGACTACAAGCACGCGCCACCACGCCCGGCTAATTTTTGTGTTTTTAGTAGAAACGAGGTTTTGCCATGTTGGCCAGGCTGGTCTCGAACTCCTGACCTCAGGTGATCCACCCGCCTTGGCCTCCCCAAGTGCCAGGATTACAGGTGTTTGAGTCACGTCGCCTGGCCAGGGACCACATGTTGAATAGAGAGGGGTTAAGCAGAAGGGATGGCCAGAGAGCAGCATATTAACCTTGGTTTCTGGCCTCCTAGCCTGATGTAGTAAGACTGGGATATTCCCCTCCCTACAAATGTCTGTGT
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AGAGATGGCAGAACCAAAGCTTCTCATTACCCTCCAGCAGGCAAGAGTAGGTCAGTGGGATCATGGACTGAAACAAGACATTGTGTGAGCTGGTCCGTCACTCAGAAGCAGGGTCCTGAAGGAAGCTGGAATGGCATGAGTTAGGTGGGGGGAATAGGTGGTGTGGCCCCTCAACCAGACAATTAGAATCAGCCTCCACCTTAACTGCCCACCCCCAGTGAGTTCTGCCTCAGCTTCTTGACTAACCCCTTGTAGGGGCAAAACTCCTGGAAGGGACAGCCCCACCCTGAGCCAGCTTCACTTGAGGGTATAGTAGTTTGTGGGCACAAAGGGCATCTTGCTGACTACAGCCATCTGCTGCTTCCGCCGCACCTCTACCAGCAGCATTGTCCCTGGACGACTGTACTCGCAGGGCACATAACCCATCGCCACATTCTTCTTCAGAGAGGGGGAGGGGCAGCCACTAGTCACAGTACCTGTCAAGCAAGCATAAGCCACGCATCAGCACCACCCTGCCAGTGCCCCCACCCTCCTGGGAAGAGACAAGGGTTTCCCAGCTTCCCTGGTCCACCTACCAATCTTGGTACCCTCCATGTTCAGGATGGGACTGTGTGCCCGCATGGGGGCCCCCTCACACATCAACCCCACACGCCTCCGCTGCACCCTGCCCTTCAGCTGGGGAACAATGACCTTGGCTCCAGGGAAGTCCATAGCAGCTCGGCGGCGCTTCCCTGGAGAATGACACATGAGACATAAGCCACAGCCCATAGAAGCCCTGGCCACAGGAGGTCCTTATGAGGTCCTCAAGTAACACACTATCTAGCATCAAGGCCCCTTTGCTTGGGCTACTCCAGGCTCTATTCCTCCCTTCACTGCCGTCAGCCAACCAACCACCTCCTATCCCCTGGAGGCCATGCTGCCCACCTGCCGAGCGTCTTCAGTTTCTTTTTTTTTTTTTTGAGATGGAGTCACTCTGTCGCCCAGGCCTAGAATGCAGTGGCACGATCTCAGCTCACTGCAAACTCTGCCTCCCAGGTTCAAGCAATTTACCTGCCTCAGTCTCCCGAGTAGCTGGGATAACAGGCACCCGCCACCACGCCTGGCTAATTTTTATATTTTCAGTAGAGACGGGGTCTCACCATGTTGGCCAGGCTATTCTCGAATTCCTGACCTCATGATCCACCCACCTTGGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACCATGCCCGGCAGCATCTTCAGTTTCTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGGGTCTCGCTCTATCGCCCTGGCTGGAGGTGCAGTGGCGCAATCTCGGCTCACTGCAAACTCCGCCGCCCAGGTTCATGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCGCCCGCCACAATGCCCAGCTAATTTTTTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCATGTTAGCCAGGATGGTCTTGATCTCCTGACCTCGTGATCCACCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGATGTGAGCCACCGCATCCGGCCAACATCTGCAGTTTCTAATGGGCAAAGGCACAGTGGCACCTTCAGGGAAGGGAGGCTCAGGAAGGCTTCAGGCTACATAACCTTTGGATGAGTCATGGGCTGGCTAGTCTTATCAAGGGTCACCCTGACCTCCAGGACCCTATCCTTTAGTGCTGGCCCAGCTCACCCAGTGTCCAACTGAGGCTGCCCTCCACAGGTGTAGTGTGTTCATCAATGTCATTCCCATACAGGCAGAGGCCTGCCTCCAGGCGCAGGCTGTCCCTGGCTGCCAGCCCTGCCAGCTTCACCTCTGGGTTTTTCAGAATAGCTGTTGCCAGGTGAACTGCCCCCGCTACCGGCACCGAGATCTGTATGAAACACCAGAGGGCAGATGGGAAGCTCCCTGTACCACATACCCCCAACCCCTCACATGCATCCTGTGCCCTGTACTGCCCCCACACCACTTCTTGACACACCTCCACACCATCCTCTCCTGTGTAGCCACAGTGGGTCACGCGGCAGCCAGACACGCCAAACACCTCCATCACAGCACTGGTCATGAAGGGCAGTTTCCTCAGGTCATCTGCCACGCCGGCCTGTAGTACCTGGGCTGCAGTGGGGCCTGGGCCCAGGGAGCCAGTGACCAAGTATCCAGGTCCCAGCATCCCTCAAAGCTGGACTAAAGCCTTATTCAGGGACCAGAACAAGCCCTGAGCATGTCTTACTCTGCAAGTGGGAGAAGATGCCCTTGTCCCTAGCCCATGGAGCCTTGTGGTAGGTAGGAGGAGGGCAAGATACAAAACTTAAAATTATGGCACACAAATATCACACCTTCCACACATTCTTCTTGGTATGGCCTCTGTGCTAAGCAGTCAATGAAGCCAGGAAGGCAAAGGTTGGCTCCAACCCCAGCCCAGCCCTCTCACCTTGCAGAGCTAGCAGGGCATTATCCAACACCTCCAGGCCCACATCTCTGCCCTGGTTCTGAAGCTCCCTGACCTTGTCCTAAAAGACAGAAACACAAGAGCATCTGGGGCCACTTACTGAGCAGCTACCATGGGCTGGACGCTGCAGAGCTGGACAGTAGTAGGACAGTGGAGAGGAGGAGGAGGAGGGAGGAAAAAAAAAGGTAGTAGGCTGGTTCCCATCTTACAAGGTCACATAGCTACTAAGTGATAGAGATGACCCAAGCCCAGTTCTGCCACCTCACACCAGAGGGGCCAAGACCCCCTCCCCATGCCTGGTAATCCCCCACCACCAAACCCTGGCGTGCTCCAGAGAGGGCCTGCTCTTGAGTCTCATAGCTGTTCATTCACTGAAAGAGCCATTTTCCAGGTCCCTTGTCTGTGCCAACCCTGTCTTGGACAACAAGGATACTGCTCTATGAACAAGGAAGACAAGGTGTCTAGAACACAGAGGGGGTATACCTGCATGAGGGCCAAATCTTTCTCCCAGCAGCCAGCGTTGGACACCACATACAGGTGGCCCTCAGAAGTATTGGTTACAATCAAGTCATCTAAGATGCCTCCAGCCTCGTTGGTAAACAGCGACAGTGTCCCCTAGGACCAAAGTGGAGCGTTTTGGCTTCCAGGTCCAGGAGGGCAAGGCCAAGGGTGAGCCAGACACAACCCTGGACCCACTTAGTTACCAAAAGGTTATGAACCCTAATGTGAAGGACTCAGGGTGTGCAAGGTACAAGTCTGGGCCCAAGTCCAAGGTCTTTGATCCTCATGCATCAAGTAAGTTTTCATCCCCTCCCTACCTTGGGGTGCTTCCCTGATCTGGTGCAACCTCTGCACCCCTCCCCACTCTGTACTGAGAGTCCCATCTGACACTTAATCTATGACACCTAGGACCTGCTGCTTCACCTACCCAAACCTGGGACGACTTAGCCCATGTGGCAACCCACAGGACAAAAGCTTCAAAGGTCATCTTGATGATCGCAGGCTCTCCTAAGTACTCCATAGCAATGCCCCCAAAAAACTTCCTTAGCCTCCCCACTGGATGGACAAAAAGCCTGAGGTTGAGGGGGTCACATGAATCACCTGGGGATCTTGTTAAAATGAAGGTTCTGATTCAGCAGGTCTGCAGCAGTGCCTGAGACTATATTCCTAACAAGCTCCAAAGATGCTGGTTTAGAGACCACACTTTGTTGTTGTTATTTTTCTTTTTAGACTGAGTCTCACTCTGTTGCCCAGGCCAGAGTGCAGTGGTGCAACCTCAGCTTGCTGCAACCTCAGCCTCCCGAGTAGCTGGGACTACAAGCACGCGCCACCACGCCCGGCTAATTTTTGTGTTTTTAGTAGAAACGAGGTTTTGCCATGTTGGCCAGGCTGGTCTCGAACTCCTGACCTCAGGTGATCCACCCGCCTTGGCCTCCCCAAGTGCCAGGATTACAGGTGTTTGAGTCACGTCGCCTGGCCAGGGACCACATGTTGAATAGAGAGGGGTTAAGCAGAAGGGATGGCCAGAGAGCAGCATATTAACCTTGGTTTCTGGCCTCCTAGCCTGATGTAGTAAGACTGGGATATTCCCCTCCCTACAAATGTCTGTGT
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Task1_train_7015
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Chromosome 3 houses a mutation in gene AMT (aminomethyltransferase). Classify its clinical impact — is it pathogenic or benign, and what disease does it lead to if any?
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Pathogenic; Glycine encephalopathy 1
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AGAGATGGCAGAACCAAAGCTTCTCATTACCCTCCAGCAGGCAAGAGTAGGTCAGTGGGATCATGGACTGAAACAAGACATTGTGTGAGCTGGTCCGTCACTCAGAAGCAGGGTCCTGAAGGAAGCTGGAATGGCATGAGTTAGGTGGGGGGAATAGGTGGTGTGGCCCCTCAACCAGACAATTAGAATCAGCCTCCACCTTAACTGCCCACCCCCAGTGAGTTCTGCCTCAGCTTCTTGACTAACCCCTTGTAGGGGCAAAACTCCTGGAAGGGACAGCCCCACCCTGAGCCAGCTTCACTTGAGGGTATAGTAGTTTGTGGGCACAAAGGGCATCTTGCTGACTACAGCCATCTGCTGCTTCCGCCGCACCTCTACCAGCAGCATTGTCCCTGGACGACTGTACTCGCAGGGCACATAACCCATCGCCACATTCTTCTTCAGAGAGGGGGAGGGGCAGCCACTAGTCACAGTACCTGTCAAGCAAGCATAAGCCACGCATCAGCACCACCCTGCCAGTGCCCCCACCCTCCTGGGAAGAGACAAGGGTTTCCCAGCTTCCCTGGTCCACCTACCAATCTTGGTACCCTCCATGTTCAGGATGGGACTGTGTGCCCGCATGGGGGCCCCCTCACACATCAACCCCACACGCCTCCGCTGCACCCTGCCCTTCAGCTGGGGAACAATGACCTTGGCTCCAGGGAAGTCCATAGCAGCTCGGCGGCGCTTCCCTGGAGAATGACACATGAGACATAAGCCACAGCCCATAGAAGCCCTGGCCACAGGAGGTCCTTATGAGGTCCTCAAGTAACACACTATCTAGCATCAAGGCCCCTTTGCTTGGGCTACTCCAGGCTCTATTCCTCCCTTCACTGCCGTCAGCCAACCAACCACCTCCTATCCCCTGGAGGCCATGCTGCCCACCTGCCGAGCGTCTTCAGTTTCTTTTTTTTTTTTTTGAGATGGAGTCACTCTGTCGCCCAGGCCTAGAATGCAGTGGCACGATCTCAGCTCACTGCAAACTCTGCCTCCCAGGTTCAAGCAATTTACCTGCCTCAGTCTCCCGAGTAGCTGGGATAACAGGCACCCGCCACCACGCCTGGCTAATTTTTATATTTTCAGTAGAGACGGGGTCTCACCATGTTGGCCAGGCTATTCTCGAATTCCTGACCTCATGATCCACCCACCTTGGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACCATGCCCGGCAGCATCTTCAGTTTCTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGGGTCTCGCTCTATCGCCCTGGCTGGAGGTGCAGTGGCGCAATCTCGGCTCACTGCAAACTCCGCCGCCCAGGTTCATGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCGCCCGCCACAATGCCCAGCTAATTTTTTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCATGTTAGCCAGGATGGTCTTGATCTCCTGACCTCGTGATCCACCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGATGTGAGCCACCGCATCCGGCCAACATCTGCAGTTTCTAATGGGCAAAGGCACAGTGGCACCTTCAGGGAAGGGAGGCTCAGGAAGGCTTCAGGCTACATAACCTTTGGATGAGTCATGGGCTGGCTAGTCTTATCAAGGGTCACCCTGACCTCCAGGACCCTATCCTTTAGTGCTGGCCCAGCTCACCCAGTGTCCAACTGAGGCTGCCCTCCACAGGTGTAGTGTGTTCATCAATGTCATTCCCATACAGGCAGAGGCCTGCCTCCAGGCGCAGGCTGTCCCTGGCTGCCAGCCCTGCCAGCTTCACCTCTGGGTTTTTCAGAATAGCTGTTGCCAGGTGAACTGCCCCCGCTACCGGCACCGAGATCTGTATGAAACACCAGAGGGCAGATGGGAAGCTCCCTGTACCACATACCCCCAACCCCTCACATGCATCCTGTGCCCTGTACTGCCCCCACACCACTTCTTGACACACCTCCACACCATCCTCTCCTGTGTAGCCACAGCGGGTCACGCGGCAGCCAGACACGCCAAACACCTCCATCACAGCACTGGTCATGAAGGGCAGTTTCCTCAGGTCATCTGCCACGCCGGCCTGTAGTACCTGGGCTGCAGTGGGGCCTGGGCCCAGGGAGCCAGTGACCAAGTATCCAGGTCCCAGCATCCCTCAAAGCTGGACTAAAGCCTTATTCAGGGACCAGAACAAGCCCTGAGCATGTCTTACTCTGCAAGTGGGAGAAGATGCCCTTGTCCCTAGCCCATGGAGCCTTGTGGTAGGTAGGAGGAGGGCAAGATACAAAACTTAAAATTATGGCACACAAATATCACACCTTCCACACATTCTTCTTGGTATGGCCTCTGTGCTAAGCAGTCAATGAAGCCAGGAAGGCAAAGGTTGGCTCCAACCCCAGCCCAGCCCTCTCACCTTGCAGAGCTAGCAGGGCATTATCCAACACCTCCAGGCCCACATCTCTGCCCTGGTTCTGAAGCTCCCTGACCTTGTCCTAAAAGACAGAAACACAAGAGCATCTGGGGCCACTTACTGAGCAGCTACCATGGGCTGGACGCTGCAGAGCTGGACAGTAGTAGGACAGTGGAGAGGAGGAGGAGGAGGGAGGAAAAAAAAAGGTAGTAGGCTGGTTCCCATCTTACAAGGTCACATAGCTACTAAGTGATAGAGATGACCCAAGCCCAGTTCTGCCACCTCACACCAGAGGGGCCAAGACCCCCTCCCCATGCCTGGTAATCCCCCACCACCAAACCCTGGCGTGCTCCAGAGAGGGCCTGCTCTTGAGTCTCATAGCTGTTCATTCACTGAAAGAGCCATTTTCCAGGTCCCTTGTCTGTGCCAACCCTGTCTTGGACAACAAGGATACTGCTCTATGAACAAGGAAGACAAGGTGTCTAGAACACAGAGGGGGTATACCTGCATGAGGGCCAAATCTTTCTCCCAGCAGCCAGCGTTGGACACCACATACAGGTGGCCCTCAGAAGTATTGGTTACAATCAAGTCATCTAAGATGCCTCCAGCCTCGTTGGTAAACAGCGACAGTGTCCCCTAGGACCAAAGTGGAGCGTTTTGGCTTCCAGGTCCAGGAGGGCAAGGCCAAGGGTGAGCCAGACACAACCCTGGACCCACTTAGTTACCAAAAGGTTATGAACCCTAATGTGAAGGACTCAGGGTGTGCAAGGTACAAGTCTGGGCCCAAGTCCAAGGTCTTTGATCCTCATGCATCAAGTAAGTTTTCATCCCCTCCCTACCTTGGGGTGCTTCCCTGATCTGGTGCAACCTCTGCACCCCTCCCCACTCTGTACTGAGAGTCCCATCTGACACTTAATCTATGACACCTAGGACCTGCTGCTTCACCTACCCAAACCTGGGACGACTTAGCCCATGTGGCAACCCACAGGACAAAAGCTTCAAAGGTCATCTTGATGATCGCAGGCTCTCCTAAGTACTCCATAGCAATGCCCCCAAAAAACTTCCTTAGCCTCCCCACTGGATGGACAAAAAGCCTGAGGTTGAGGGGGTCACATGAATCACCTGGGGATCTTGTTAAAATGAAGGTTCTGATTCAGCAGGTCTGCAGCAGTGCCTGAGACTATATTCCTAACAAGCTCCAAAGATGCTGGTTTAGAGACCACACTTTGTTGTTGTTATTTTTCTTTTTAGACTGAGTCTCACTCTGTTGCCCAGGCCAGAGTGCAGTGGTGCAACCTCAGCTTGCTGCAACCTCAGCCTCCCGAGTAGCTGGGACTACAAGCACGCGCCACCACGCCCGGCTAATTTTTGTGTTTTTAGTAGAAACGAGGTTTTGCCATGTTGGCCAGGCTGGTCTCGAACTCCTGACCTCAGGTGATCCACCCGCCTTGGCCTCCCCAAGTGCCAGGATTACAGGTGTTTGAGTCACGTCGCCTGGCCAGGGACCACATGTTGAATAGAGAGGGGTTAAGCAGAAGGGATGGCCAGAGAGCAGCATATTAACCTTGGTTTCTGGCCTCCTAGCCTGATGTAGTAAGACTGGGATATTCCCCTCCCTACAAATGTCTGTGT
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AGAGATGGCAGAACCAAAGCTTCTCATTACCCTCCAGCAGGCAAGAGTAGGTCAGTGGGATCATGGACTGAAACAAGACATTGTGTGAGCTGGTCCGTCACTCAGAAGCAGGGTCCTGAAGGAAGCTGGAATGGCATGAGTTAGGTGGGGGGAATAGGTGGTGTGGCCCCTCAACCAGACAATTAGAATCAGCCTCCACCTTAACTGCCCACCCCCAGTGAGTTCTGCCTCAGCTTCTTGACTAACCCCTTGTAGGGGCAAAACTCCTGGAAGGGACAGCCCCACCCTGAGCCAGCTTCACTTGAGGGTATAGTAGTTTGTGGGCACAAAGGGCATCTTGCTGACTACAGCCATCTGCTGCTTCCGCCGCACCTCTACCAGCAGCATTGTCCCTGGACGACTGTACTCGCAGGGCACATAACCCATCGCCACATTCTTCTTCAGAGAGGGGGAGGGGCAGCCACTAGTCACAGTACCTGTCAAGCAAGCATAAGCCACGCATCAGCACCACCCTGCCAGTGCCCCCACCCTCCTGGGAAGAGACAAGGGTTTCCCAGCTTCCCTGGTCCACCTACCAATCTTGGTACCCTCCATGTTCAGGATGGGACTGTGTGCCCGCATGGGGGCCCCCTCACACATCAACCCCACACGCCTCCGCTGCACCCTGCCCTTCAGCTGGGGAACAATGACCTTGGCTCCAGGGAAGTCCATAGCAGCTCGGCGGCGCTTCCCTGGAGAATGACACATGAGACATAAGCCACAGCCCATAGAAGCCCTGGCCACAGGAGGTCCTTATGAGGTCCTCAAGTAACACACTATCTAGCATCAAGGCCCCTTTGCTTGGGCTACTCCAGGCTCTATTCCTCCCTTCACTGCCGTCAGCCAACCAACCACCTCCTATCCCCTGGAGGCCATGCTGCCCACCTGCCGAGCGTCTTCAGTTTCTTTTTTTTTTTTTTGAGATGGAGTCACTCTGTCGCCCAGGCCTAGAATGCAGTGGCACGATCTCAGCTCACTGCAAACTCTGCCTCCCAGGTTCAAGCAATTTACCTGCCTCAGTCTCCCGAGTAGCTGGGATAACAGGCACCCGCCACCACGCCTGGCTAATTTTTATATTTTCAGTAGAGACGGGGTCTCACCATGTTGGCCAGGCTATTCTCGAATTCCTGACCTCATGATCCACCCACCTTGGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACCATGCCCGGCAGCATCTTCAGTTTCTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGGGTCTCGCTCTATCGCCCTGGCTGGAGGTGCAGTGGCGCAATCTCGGCTCACTGCAAACTCCGCCGCCCAGGTTCATGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCGCCCGCCACAATGCCCAGCTAATTTTTTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCATGTTAGCCAGGATGGTCTTGATCTCCTGACCTCGTGATCCACCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGATGTGAGCCACCGCATCCGGCCAACATCTGCAGTTTCTAATGGGCAAAGGCACAGTGGCACCTTCAGGGAAGGGAGGCTCAGGAAGGCTTCAGGCTACATAACCTTTGGATGAGTCATGGGCTGGCTAGTCTTATCAAGGGTCACCCTGACCTCCAGGACCCTATCCTTTAGTGCTGGCCCAGCTCACCCAGTGTCCAACTGAGGCTGCCCTCCACAGGTGTAGTGTGTTCATCAATGTCATTCCCATACAGGCAGAGGCCTGCCTCCAGGCGCAGGCTGTCCCTGGCTGCCAGCCCTGCCAGCTTCACCTCTGGGTTTTTCAGAATAGCTGTTGCCAGGTGAACTGCCCCCGCTACCGGCACCGAGATCTGTATGAAACACCAGAGGGCAGATGGGAAGCTCCCTGTACCACATACCCCCAACCCCTCACATGCATCCTGTGCCCTGTACTGCCCCCACACCACTTCTTGACACACCTCCACACCATCCTCTCCTGTGTAGCCACAGTGGGTCACGCGGCAGCCAGACACGCCAAACACCTCCATCACAGCACTGGTCATGAAGGGCAGTTTCCTCAGGTCATCTGCCACGCCGGCCTGTAGTACCTGGGCTGCAGTGGGGCCTGGGCCCAGGGAGCCAGTGACCAAGTATCCAGGTCCCAGCATCCCTCAAAGCTGGACTAAAGCCTTATTCAGGGACCAGAACAAGCCCTGAGCATGTCTTACTCTGCAAGTGGGAGAAGATGCCCTTGTCCCTAGCCCATGGAGCCTTGTGGTAGGTAGGAGGAGGGCAAGATACAAAACTTAAAATTATGGCACACAAATATCACACCTTCCACACATTCTTCTTGGTATGGCCTCTGTGCTAAGCAGTCAATGAAGCCAGGAAGGCAAAGGTTGGCTCCAACCCCAGCCCAGCCCTCTCACCTTGCAGAGCTAGCAGGGCATTATCCAACACCTCCAGGCCCACATCTCTGCCCTGGTTCTGAAGCTCCCTGACCTTGTCCTAAAAGACAGAAACACAAGAGCATCTGGGGCCACTTACTGAGCAGCTACCATGGGCTGGACGCTGCAGAGCTGGACAGTAGTAGGACAGTGGAGAGGAGGAGGAGGAGGGAGGAAAAAAAAAGGTAGTAGGCTGGTTCCCATCTTACAAGGTCACATAGCTACTAAGTGATAGAGATGACCCAAGCCCAGTTCTGCCACCTCACACCAGAGGGGCCAAGACCCCCTCCCCATGCCTGGTAATCCCCCACCACCAAACCCTGGCGTGCTCCAGAGAGGGCCTGCTCTTGAGTCTCATAGCTGTTCATTCACTGAAAGAGCCATTTTCCAGGTCCCTTGTCTGTGCCAACCCTGTCTTGGACAACAAGGATACTGCTCTATGAACAAGGAAGACAAGGTGTCTAGAACACAGAGGGGGTATACCTGCATGAGGGCCAAATCTTTCTCCCAGCAGCCAGCGTTGGACACCACATACAGGTGGCCCTCAGAAGTATTGGTTACAATCAAGTCATCTAAGATGCCTCCAGCCTCGTTGGTAAACAGCGACAGTGTCCCCTAGGACCAAAGTGGAGCGTTTTGGCTTCCAGGTCCAGGAGGGCAAGGCCAAGGGTGAGCCAGACACAACCCTGGACCCACTTAGTTACCAAAAGGTTATGAACCCTAATGTGAAGGACTCAGGGTGTGCAAGGTACAAGTCTGGGCCCAAGTCCAAGGTCTTTGATCCTCATGCATCAAGTAAGTTTTCATCCCCTCCCTACCTTGGGGTGCTTCCCTGATCTGGTGCAACCTCTGCACCCCTCCCCACTCTGTACTGAGAGTCCCATCTGACACTTAATCTATGACACCTAGGACCTGCTGCTTCACCTACCCAAACCTGGGACGACTTAGCCCATGTGGCAACCCACAGGACAAAAGCTTCAAAGGTCATCTTGATGATCGCAGGCTCTCCTAAGTACTCCATAGCAATGCCCCCAAAAAACTTCCTTAGCCTCCCCACTGGATGGACAAAAAGCCTGAGGTTGAGGGGGTCACATGAATCACCTGGGGATCTTGTTAAAATGAAGGTTCTGATTCAGCAGGTCTGCAGCAGTGCCTGAGACTATATTCCTAACAAGCTCCAAAGATGCTGGTTTAGAGACCACACTTTGTTGTTGTTATTTTTCTTTTTAGACTGAGTCTCACTCTGTTGCCCAGGCCAGAGTGCAGTGGTGCAACCTCAGCTTGCTGCAACCTCAGCCTCCCGAGTAGCTGGGACTACAAGCACGCGCCACCACGCCCGGCTAATTTTTGTGTTTTTAGTAGAAACGAGGTTTTGCCATGTTGGCCAGGCTGGTCTCGAACTCCTGACCTCAGGTGATCCACCCGCCTTGGCCTCCCCAAGTGCCAGGATTACAGGTGTTTGAGTCACGTCGCCTGGCCAGGGACCACATGTTGAATAGAGAGGGGTTAAGCAGAAGGGATGGCCAGAGAGCAGCATATTAACCTTGGTTTCTGGCCTCCTAGCCTGATGTAGTAAGACTGGGATATTCCCCTCCCTACAAATGTCTGTGT
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Task1_train_7016
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Given this variant in gene AMT (aminomethyltransferase) on Chromosome 3, classify it as benign or pathogenic. Include the disorder it may cause if applicable.
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Pathogenic; Glycine encephalopathy 2
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AGAGATGGCAGAACCAAAGCTTCTCATTACCCTCCAGCAGGCAAGAGTAGGTCAGTGGGATCATGGACTGAAACAAGACATTGTGTGAGCTGGTCCGTCACTCAGAAGCAGGGTCCTGAAGGAAGCTGGAATGGCATGAGTTAGGTGGGGGGAATAGGTGGTGTGGCCCCTCAACCAGACAATTAGAATCAGCCTCCACCTTAACTGCCCACCCCCAGTGAGTTCTGCCTCAGCTTCTTGACTAACCCCTTGTAGGGGCAAAACTCCTGGAAGGGACAGCCCCACCCTGAGCCAGCTTCACTTGAGGGTATAGTAGTTTGTGGGCACAAAGGGCATCTTGCTGACTACAGCCATCTGCTGCTTCCGCCGCACCTCTACCAGCAGCATTGTCCCTGGACGACTGTACTCGCAGGGCACATAACCCATCGCCACATTCTTCTTCAGAGAGGGGGAGGGGCAGCCACTAGTCACAGTACCTGTCAAGCAAGCATAAGCCACGCATCAGCACCACCCTGCCAGTGCCCCCACCCTCCTGGGAAGAGACAAGGGTTTCCCAGCTTCCCTGGTCCACCTACCAATCTTGGTACCCTCCATGTTCAGGATGGGACTGTGTGCCCGCATGGGGGCCCCCTCACACATCAACCCCACACGCCTCCGCTGCACCCTGCCCTTCAGCTGGGGAACAATGACCTTGGCTCCAGGGAAGTCCATAGCAGCTCGGCGGCGCTTCCCTGGAGAATGACACATGAGACATAAGCCACAGCCCATAGAAGCCCTGGCCACAGGAGGTCCTTATGAGGTCCTCAAGTAACACACTATCTAGCATCAAGGCCCCTTTGCTTGGGCTACTCCAGGCTCTATTCCTCCCTTCACTGCCGTCAGCCAACCAACCACCTCCTATCCCCTGGAGGCCATGCTGCCCACCTGCCGAGCGTCTTCAGTTTCTTTTTTTTTTTTTTGAGATGGAGTCACTCTGTCGCCCAGGCCTAGAATGCAGTGGCACGATCTCAGCTCACTGCAAACTCTGCCTCCCAGGTTCAAGCAATTTACCTGCCTCAGTCTCCCGAGTAGCTGGGATAACAGGCACCCGCCACCACGCCTGGCTAATTTTTATATTTTCAGTAGAGACGGGGTCTCACCATGTTGGCCAGGCTATTCTCGAATTCCTGACCTCATGATCCACCCACCTTGGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACCATGCCCGGCAGCATCTTCAGTTTCTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGGGTCTCGCTCTATCGCCCTGGCTGGAGGTGCAGTGGCGCAATCTCGGCTCACTGCAAACTCCGCCGCCCAGGTTCATGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCGCCCGCCACAATGCCCAGCTAATTTTTTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCATGTTAGCCAGGATGGTCTTGATCTCCTGACCTCGTGATCCACCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGATGTGAGCCACCGCATCCGGCCAACATCTGCAGTTTCTAATGGGCAAAGGCACAGTGGCACCTTCAGGGAAGGGAGGCTCAGGAAGGCTTCAGGCTACATAACCTTTGGATGAGTCATGGGCTGGCTAGTCTTATCAAGGGTCACCCTGACCTCCAGGACCCTATCCTTTAGTGCTGGCCCAGCTCACCCAGTGTCCAACTGAGGCTGCCCTCCACAGGTGTAGTGTGTTCATCAATGTCATTCCCATACAGGCAGAGGCCTGCCTCCAGGCGCAGGCTGTCCCTGGCTGCCAGCCCTGCCAGCTTCACCTCTGGGTTTTTCAGAATAGCTGTTGCCAGGTGAACTGCCCCCGCTACCGGCACCGAGATCTGTATGAAACACCAGAGGGCAGATGGGAAGCTCCCTGTACCACATACCCCCAACCCCTCACATGCATCCTGTGCCCTGTACTGCCCCCACACCACTTCTTGACACACCTCCACACCATCCTCTCCTGTGTAGCCACAGCGGGTCACGCGGCAGCCAGACACGCCAAACACCTCCATCACAGCACTGGTCATGAAGGGCAGTTTCCTCAGGTCATCTGCCACGCCGGCCTGTAGTACCTGGGCTGCAGTGGGGCCTGGGCCCAGGGAGCCAGTGACCAAGTATCCAGGTCCCAGCATCCCTCAAAGCTGGACTAAAGCCTTATTCAGGGACCAGAACAAGCCCTGAGCATGTCTTACTCTGCAAGTGGGAGAAGATGCCCTTGTCCCTAGCCCATGGAGCCTTGTGGTAGGTAGGAGGAGGGCAAGATACAAAACTTAAAATTATGGCACACAAATATCACACCTTCCACACATTCTTCTTGGTATGGCCTCTGTGCTAAGCAGTCAATGAAGCCAGGAAGGCAAAGGTTGGCTCCAACCCCAGCCCAGCCCTCTCACCTTGCAGAGCTAGCAGGGCATTATCCAACACCTCCAGGCCCACATCTCTGCCCTGGTTCTGAAGCTCCCTGACCTTGTCCTAAAAGACAGAAACACAAGAGCATCTGGGGCCACTTACTGAGCAGCTACCATGGGCTGGACGCTGCAGAGCTGGACAGTAGTAGGACAGTGGAGAGGAGGAGGAGGAGGGAGGAAAAAAAAAGGTAGTAGGCTGGTTCCCATCTTACAAGGTCACATAGCTACTAAGTGATAGAGATGACCCAAGCCCAGTTCTGCCACCTCACACCAGAGGGGCCAAGACCCCCTCCCCATGCCTGGTAATCCCCCACCACCAAACCCTGGCGTGCTCCAGAGAGGGCCTGCTCTTGAGTCTCATAGCTGTTCATTCACTGAAAGAGCCATTTTCCAGGTCCCTTGTCTGTGCCAACCCTGTCTTGGACAACAAGGATACTGCTCTATGAACAAGGAAGACAAGGTGTCTAGAACACAGAGGGGGTATACCTGCATGAGGGCCAAATCTTTCTCCCAGCAGCCAGCGTTGGACACCACATACAGGTGGCCCTCAGAAGTATTGGTTACAATCAAGTCATCTAAGATGCCTCCAGCCTCGTTGGTAAACAGCGACAGTGTCCCCTAGGACCAAAGTGGAGCGTTTTGGCTTCCAGGTCCAGGAGGGCAAGGCCAAGGGTGAGCCAGACACAACCCTGGACCCACTTAGTTACCAAAAGGTTATGAACCCTAATGTGAAGGACTCAGGGTGTGCAAGGTACAAGTCTGGGCCCAAGTCCAAGGTCTTTGATCCTCATGCATCAAGTAAGTTTTCATCCCCTCCCTACCTTGGGGTGCTTCCCTGATCTGGTGCAACCTCTGCACCCCTCCCCACTCTGTACTGAGAGTCCCATCTGACACTTAATCTATGACACCTAGGACCTGCTGCTTCACCTACCCAAACCTGGGACGACTTAGCCCATGTGGCAACCCACAGGACAAAAGCTTCAAAGGTCATCTTGATGATCGCAGGCTCTCCTAAGTACTCCATAGCAATGCCCCCAAAAAACTTCCTTAGCCTCCCCACTGGATGGACAAAAAGCCTGAGGTTGAGGGGGTCACATGAATCACCTGGGGATCTTGTTAAAATGAAGGTTCTGATTCAGCAGGTCTGCAGCAGTGCCTGAGACTATATTCCTAACAAGCTCCAAAGATGCTGGTTTAGAGACCACACTTTGTTGTTGTTATTTTTCTTTTTAGACTGAGTCTCACTCTGTTGCCCAGGCCAGAGTGCAGTGGTGCAACCTCAGCTTGCTGCAACCTCAGCCTCCCGAGTAGCTGGGACTACAAGCACGCGCCACCACGCCCGGCTAATTTTTGTGTTTTTAGTAGAAACGAGGTTTTGCCATGTTGGCCAGGCTGGTCTCGAACTCCTGACCTCAGGTGATCCACCCGCCTTGGCCTCCCCAAGTGCCAGGATTACAGGTGTTTGAGTCACGTCGCCTGGCCAGGGACCACATGTTGAATAGAGAGGGGTTAAGCAGAAGGGATGGCCAGAGAGCAGCATATTAACCTTGGTTTCTGGCCTCCTAGCCTGATGTAGTAAGACTGGGATATTCCCCTCCCTACAAATGTCTGTGT
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AGAGATGGCAGAACCAAAGCTTCTCATTACCCTCCAGCAGGCAAGAGTAGGTCAGTGGGATCATGGACTGAAACAAGACATTGTGTGAGCTGGTCCGTCACTCAGAAGCAGGGTCCTGAAGGAAGCTGGAATGGCATGAGTTAGGTGGGGGGAATAGGTGGTGTGGCCCCTCAACCAGACAATTAGAATCAGCCTCCACCTTAACTGCCCACCCCCAGTGAGTTCTGCCTCAGCTTCTTGACTAACCCCTTGTAGGGGCAAAACTCCTGGAAGGGACAGCCCCACCCTGAGCCAGCTTCACTTGAGGGTATAGTAGTTTGTGGGCACAAAGGGCATCTTGCTGACTACAGCCATCTGCTGCTTCCGCCGCACCTCTACCAGCAGCATTGTCCCTGGACGACTGTACTCGCAGGGCACATAACCCATCGCCACATTCTTCTTCAGAGAGGGGGAGGGGCAGCCACTAGTCACAGTACCTGTCAAGCAAGCATAAGCCACGCATCAGCACCACCCTGCCAGTGCCCCCACCCTCCTGGGAAGAGACAAGGGTTTCCCAGCTTCCCTGGTCCACCTACCAATCTTGGTACCCTCCATGTTCAGGATGGGACTGTGTGCCCGCATGGGGGCCCCCTCACACATCAACCCCACACGCCTCCGCTGCACCCTGCCCTTCAGCTGGGGAACAATGACCTTGGCTCCAGGGAAGTCCATAGCAGCTCGGCGGCGCTTCCCTGGAGAATGACACATGAGACATAAGCCACAGCCCATAGAAGCCCTGGCCACAGGAGGTCCTTATGAGGTCCTCAAGTAACACACTATCTAGCATCAAGGCCCCTTTGCTTGGGCTACTCCAGGCTCTATTCCTCCCTTCACTGCCGTCAGCCAACCAACCACCTCCTATCCCCTGGAGGCCATGCTGCCCACCTGCCGAGCGTCTTCAGTTTCTTTTTTTTTTTTTTGAGATGGAGTCACTCTGTCGCCCAGGCCTAGAATGCAGTGGCACGATCTCAGCTCACTGCAAACTCTGCCTCCCAGGTTCAAGCAATTTACCTGCCTCAGTCTCCCGAGTAGCTGGGATAACAGGCACCCGCCACCACGCCTGGCTAATTTTTATATTTTCAGTAGAGACGGGGTCTCACCATGTTGGCCAGGCTATTCTCGAATTCCTGACCTCATGATCCACCCACCTTGGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACCATGCCCGGCAGCATCTTCAGTTTCTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGGGTCTCGCTCTATCGCCCTGGCTGGAGGTGCAGTGGCGCAATCTCGGCTCACTGCAAACTCCGCCGCCCAGGTTCATGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCGCCCGCCACAATGCCCAGCTAATTTTTTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCATGTTAGCCAGGATGGTCTTGATCTCCTGACCTCGTGATCCACCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGATGTGAGCCACCGCATCCGGCCAACATCTGCAGTTTCTAATGGGCAAAGGCACAGTGGCACCTTCAGGGAAGGGAGGCTCAGGAAGGCTTCAGGCTACATAACCTTTGGATGAGTCATGGGCTGGCTAGTCTTATCAAGGGTCACCCTGACCTCCAGGACCCTATCCTTTAGTGCTGGCCCAGCTCACCCAGTGTCCAACTGAGGCTGCCCTCCACAGGTGTAGTGTGTTCATCAATGTCATTCCCATACAGGCAGAGGCCTGCCTCCAGGCGCAGGCTGTCCCTGGCTGCCAGCCCTGCCAGCTTCACCTCTGGGTTTTTCAGAATAGCTGTTGCCAGGTGAACTGCCCCCGCTACCGGCACCGAGATCTGTATGAAACACCAGAGGGCAGATGGGAAGCTCCCTGTACCACATACCCCCAACCCCTCACATGCATCCTGTGCCCTGTACTGCCCCCACACCACTTCTTGACACACCTCCACACCATCCTCTCCTGTGTAGCCACAGTGGGTCACGCGGCAGCCAGACACGCCAAACACCTCCATCACAGCACTGGTCATGAAGGGCAGTTTCCTCAGGTCATCTGCCACGCCGGCCTGTAGTACCTGGGCTGCAGTGGGGCCTGGGCCCAGGGAGCCAGTGACCAAGTATCCAGGTCCCAGCATCCCTCAAAGCTGGACTAAAGCCTTATTCAGGGACCAGAACAAGCCCTGAGCATGTCTTACTCTGCAAGTGGGAGAAGATGCCCTTGTCCCTAGCCCATGGAGCCTTGTGGTAGGTAGGAGGAGGGCAAGATACAAAACTTAAAATTATGGCACACAAATATCACACCTTCCACACATTCTTCTTGGTATGGCCTCTGTGCTAAGCAGTCAATGAAGCCAGGAAGGCAAAGGTTGGCTCCAACCCCAGCCCAGCCCTCTCACCTTGCAGAGCTAGCAGGGCATTATCCAACACCTCCAGGCCCACATCTCTGCCCTGGTTCTGAAGCTCCCTGACCTTGTCCTAAAAGACAGAAACACAAGAGCATCTGGGGCCACTTACTGAGCAGCTACCATGGGCTGGACGCTGCAGAGCTGGACAGTAGTAGGACAGTGGAGAGGAGGAGGAGGAGGGAGGAAAAAAAAAGGTAGTAGGCTGGTTCCCATCTTACAAGGTCACATAGCTACTAAGTGATAGAGATGACCCAAGCCCAGTTCTGCCACCTCACACCAGAGGGGCCAAGACCCCCTCCCCATGCCTGGTAATCCCCCACCACCAAACCCTGGCGTGCTCCAGAGAGGGCCTGCTCTTGAGTCTCATAGCTGTTCATTCACTGAAAGAGCCATTTTCCAGGTCCCTTGTCTGTGCCAACCCTGTCTTGGACAACAAGGATACTGCTCTATGAACAAGGAAGACAAGGTGTCTAGAACACAGAGGGGGTATACCTGCATGAGGGCCAAATCTTTCTCCCAGCAGCCAGCGTTGGACACCACATACAGGTGGCCCTCAGAAGTATTGGTTACAATCAAGTCATCTAAGATGCCTCCAGCCTCGTTGGTAAACAGCGACAGTGTCCCCTAGGACCAAAGTGGAGCGTTTTGGCTTCCAGGTCCAGGAGGGCAAGGCCAAGGGTGAGCCAGACACAACCCTGGACCCACTTAGTTACCAAAAGGTTATGAACCCTAATGTGAAGGACTCAGGGTGTGCAAGGTACAAGTCTGGGCCCAAGTCCAAGGTCTTTGATCCTCATGCATCAAGTAAGTTTTCATCCCCTCCCTACCTTGGGGTGCTTCCCTGATCTGGTGCAACCTCTGCACCCCTCCCCACTCTGTACTGAGAGTCCCATCTGACACTTAATCTATGACACCTAGGACCTGCTGCTTCACCTACCCAAACCTGGGACGACTTAGCCCATGTGGCAACCCACAGGACAAAAGCTTCAAAGGTCATCTTGATGATCGCAGGCTCTCCTAAGTACTCCATAGCAATGCCCCCAAAAAACTTCCTTAGCCTCCCCACTGGATGGACAAAAAGCCTGAGGTTGAGGGGGTCACATGAATCACCTGGGGATCTTGTTAAAATGAAGGTTCTGATTCAGCAGGTCTGCAGCAGTGCCTGAGACTATATTCCTAACAAGCTCCAAAGATGCTGGTTTAGAGACCACACTTTGTTGTTGTTATTTTTCTTTTTAGACTGAGTCTCACTCTGTTGCCCAGGCCAGAGTGCAGTGGTGCAACCTCAGCTTGCTGCAACCTCAGCCTCCCGAGTAGCTGGGACTACAAGCACGCGCCACCACGCCCGGCTAATTTTTGTGTTTTTAGTAGAAACGAGGTTTTGCCATGTTGGCCAGGCTGGTCTCGAACTCCTGACCTCAGGTGATCCACCCGCCTTGGCCTCCCCAAGTGCCAGGATTACAGGTGTTTGAGTCACGTCGCCTGGCCAGGGACCACATGTTGAATAGAGAGGGGTTAAGCAGAAGGGATGGCCAGAGAGCAGCATATTAACCTTGGTTTCTGGCCTCCTAGCCTGATGTAGTAAGACTGGGATATTCCCCTCCCTACAAATGTCTGTGT
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Task1_train_7017
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This genomic variant is located on Chromosome 3, within the AMT (aminomethyltransferase) gene. Can you determine its pathogenicity and name any linked disease?
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Pathogenic; Glycine encephalopathy
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GGCCTGCTCTTGAGTCTCATAGCTGTTCATTCACTGAAAGAGCCATTTTCCAGGTCCCTTGTCTGTGCCAACCCTGTCTTGGACAACAAGGATACTGCTCTATGAACAAGGAAGACAAGGTGTCTAGAACACAGAGGGGGTATACCTGCATGAGGGCCAAATCTTTCTCCCAGCAGCCAGCGTTGGACACCACATACAGGTGGCCCTCAGAAGTATTGGTTACAATCAAGTCATCTAAGATGCCTCCAGCCTCGTTGGTAAACAGCGACAGTGTCCCCTAGGACCAAAGTGGAGCGTTTTGGCTTCCAGGTCCAGGAGGGCAAGGCCAAGGGTGAGCCAGACACAACCCTGGACCCACTTAGTTACCAAAAGGTTATGAACCCTAATGTGAAGGACTCAGGGTGTGCAAGGTACAAGTCTGGGCCCAAGTCCAAGGTCTTTGATCCTCATGCATCAAGTAAGTTTTCATCCCCTCCCTACCTTGGGGTGCTTCCCTGATCTGGTGCAACCTCTGCACCCCTCCCCACTCTGTACTGAGAGTCCCATCTGACACTTAATCTATGACACCTAGGACCTGCTGCTTCACCTACCCAAACCTGGGACGACTTAGCCCATGTGGCAACCCACAGGACAAAAGCTTCAAAGGTCATCTTGATGATCGCAGGCTCTCCTAAGTACTCCATAGCAATGCCCCCAAAAAACTTCCTTAGCCTCCCCACTGGATGGACAAAAAGCCTGAGGTTGAGGGGGTCACATGAATCACCTGGGGATCTTGTTAAAATGAAGGTTCTGATTCAGCAGGTCTGCAGCAGTGCCTGAGACTATATTCCTAACAAGCTCCAAAGATGCTGGTTTAGAGACCACACTTTGTTGTTGTTATTTTTCTTTTTAGACTGAGTCTCACTCTGTTGCCCAGGCCAGAGTGCAGTGGTGCAACCTCAGCTTGCTGCAACCTCAGCCTCCCGAGTAGCTGGGACTACAAGCACGCGCCACCACGCCCGGCTAATTTTTGTGTTTTTAGTAGAAACGAGGTTTTGCCATGTTGGCCAGGCTGGTCTCGAACTCCTGACCTCAGGTGATCCACCCGCCTTGGCCTCCCCAAGTGCCAGGATTACAGGTGTTTGAGTCACGTCGCCTGGCCAGGGACCACATGTTGAATAGAGAGGGGTTAAGCAGAAGGGATGGCCAGAGAGCAGCATATTAACCTTGGTTTCTGGCCTCCTAGCCTGATGTAGTAAGACTGGGATATTCCCCTCCCTACAAATGTCTGTGTCTCTGGAAATGACTCAGGGATTCTGTCCAAGACTGCAAGCCCTGAGAAGCTGTGTTTGACTCATCTCTGTGCCCCTAAGCCTGAGGTAGGGACTCAGCCCATTTGCTGGCTCATGACTAAGAAAACTCATAGAGCAGAAATAAAAGGGCCCACCTGGTTTGGTCTTAGCTCTGCAATGTCTCCAACCACTAGACTCTCCATCAGCTTCACCCGGTCACTACCAAGTATCTTGGTCTGGGGAAGAGATTGAAAGCCTCAGGCCATTGCAACAGCTACAATCCAAAAGGCTACTAAGCAAGGATGCATCCTCCCTGCCATCCACAGTGCAGTCCAGCCCACCCAAAGTGACTAACCAGTCTTTTGGTTCTACACGTGGCAAAGGACCACCTTCTGATTTCCTGACCTCCCCCAGTCACTCTGTGTGGGGGGACTGCCAGGGAACTGGACAGGACCTAGCACCTTCCTGAAATAACCCCTTTTCAAACCAACATCCAGCCCAATACATGAGAGTGGGTGTCAGCCCTGGAAAACCCGGGACATTAAGGCACACCATTTAATGGGGGCAAGCTAGAAGGATGAGATGATGAGACCCTCTGAGCTCATTTCCTTGGGGCCATTGACCTATCCATGACACCCCCATGACCTCTAGCTCTTCTGAGAAGGCTGTCCTTGGAATCCAGTTCACAGCAAACAAAGCCAAGGAGTGGACCACTGTAAACAGGGAGGAAGGCCTGATCAGATGGCCAGTGTGCTCCCCTGGCTCACCTGCAGCATATGAGACACGTCAAAGAGCGAGCAGTGCTGGCGTGTGTGCAGGTGCGAGTCAGTGTGACTGTCCCGGTACTGCACTGGCAGACTCCAACCCGCAAACGCCACCATTTTCCCGCCGTGGGCCAGGTGGAAGTCATAGAGCGGTGTCCTGCGGAGCACCTCCTGTGGGCGGCTGGGCTTAGTGCCACCAGGGCCCTAGCCCCCAGCCGCTTCCCTCCCCCACCCTCCAAGATCAGCACCCTCTATCCCACCTGTGCGCAACTAAGTGGACGACACAAGGCCGGGGGGAATGCCTGCAGGCGAAAGCCCAGACGGGCCACCACACTTACAGCCCTCTGCATCGTCGCCTGCAACGAGTGCAGACGGCGCACAGAGGCCACCACACTGCCAGGCACGCCGGGAGATGTAGTCCAGGCCTCTGCTCGGACAGGTCTCTCTCCGGAGCAAAGGATCTGAAGGGGGCGTGGGCAGCCCCAAGGGCAGGCTGGGATTTAGAGCAGAGAATGCAGGAACCCGCAACCACAGGGAAGAAGCCTCCAGCTCTTTCGGCTGACTCTTCAGGGCAGCTCGGGCAATCCAGAGCTGATTGGGCTGCCCAGAACAAAGCTAGGGGCTAGACCGCCCCCTGCAGAACCGCCCTGTCTCCAGAGGGTCAAAGTTCTGGAAAGGGCTGAAAGGTCTGAATCATACCTTTAGGACCTCAAGAGAGTAAGGTCAAGTGGGGGTGGGGAAGGTGGGCCAGCCTGGCAGGTAGGCAGCACCACAGTAGTCTGTCCTCATGTGGACCCCTAGTTCCACAGCTCTCCCACCAGGCAGACACAGGCAGCCAGCAGTCATGCATTCCACAAGTATTTATTGATCTTACTGCATACCAGGCCCTCAGATGGGGACACAGCCACGAATGAAGCATGGTCCCTGCTACCACAAGGTCCTCTTCACTTACACACACACTGAGGACTACTGCTTCGTCACGCTTTCCGAAGCAGCTGAGTGGGGCTATGTAAGTGACCTTGCAGATGAAGTCGCCACCTGCAAGAACTCACAGGTGAGAACAGAGGGTGGCCACCAAAAGGTCACTGAACTCCCCCGAGAAAACTGTTGAGCCACACACATGTCCAACTTTCCAGGTCCAAGACATACTGCAGTACTGCTTTGTAATAGCCACCAGGTGCAAAGCCAGGAAGAACCAGAGGGAAACAGGTTTTTCTCACATGAGGGAAGAGCAGCCTGCATCACTTAATGGTTGGACTGAGTTAATGCAGGACTTAGGCCTCTTAAAAGGCAACAATGAGAACCCTTACTTGGACCCACTCCCCACCACGGTTGATCTCTCATTATGCTGAGCATATCTCTTGGAAAGGGGCAGGGCGGGCGCGGTGGCTCATGCCTGTAATCCCAGCACTTTGGAAGGCCAAGGCAGGCAGATCACCTGAGGTCAGGTGTTTGAGACCAGCCTGACCAACATGGAGAAACCCCATCTCTACTACAAATACAAAATTAGCCAGGCATGGTGATGCATGACTGTAATCCCAGCTACTCGGGAGACTGAGGCAGGAGAATTGCTTGAACCTGGGAGGCGGAGGTTGCAGTTAGCCAAGATTGCACTATTGCACTCCAGCCTGGGCAACAAGAGCAAAACTCAACCTCAAAAAAAACAACAAAAAAGGAGAGGGGCAACTGGGAGAAAGGATAGAGATGTGCTTTGGGCTATGTCAGATGGCAGAAGGGTCCCAGTTCTTTTTTTTTTGTTTGTTTGTTTAAGATGGAGTTTCGCTCTTCTTGCCCAGGCTGGAGTGCAATGGCATGATCTCAGGTCCGCAACCTCCACTTCCCGGGTTCAAGAGATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGATTACAGGTGCCTACCACCACGCCCAGCTAATTTTTTGTATTTTTAGTAGAGACGGGGTTTCTCCAGGTTGGTCAGGCTGGTCTTGAACTCCTGACCTCAGGTGATCCGCCTGCCTGGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACTGCACCCTGCCTAGAAGGGTCC
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GGCCTGCTCTTGAGTCTCATAGCTGTTCATTCACTGAAAGAGCCATTTTCCAGGTCCCTTGTCTGTGCCAACCCTGTCTTGGACAACAAGGATACTGCTCTATGAACAAGGAAGACAAGGTGTCTAGAACACAGAGGGGGTATACCTGCATGAGGGCCAAATCTTTCTCCCAGCAGCCAGCGTTGGACACCACATACAGGTGGCCCTCAGAAGTATTGGTTACAATCAAGTCATCTAAGATGCCTCCAGCCTCGTTGGTAAACAGCGACAGTGTCCCCTAGGACCAAAGTGGAGCGTTTTGGCTTCCAGGTCCAGGAGGGCAAGGCCAAGGGTGAGCCAGACACAACCCTGGACCCACTTAGTTACCAAAAGGTTATGAACCCTAATGTGAAGGACTCAGGGTGTGCAAGGTACAAGTCTGGGCCCAAGTCCAAGGTCTTTGATCCTCATGCATCAAGTAAGTTTTCATCCCCTCCCTACCTTGGGGTGCTTCCCTGATCTGGTGCAACCTCTGCACCCCTCCCCACTCTGTACTGAGAGTCCCATCTGACACTTAATCTATGACACCTAGGACCTGCTGCTTCACCTACCCAAACCTGGGACGACTTAGCCCATGTGGCAACCCACAGGACAAAAGCTTCAAAGGTCATCTTGATGATCGCAGGCTCTCCTAAGTACTCCATAGCAATGCCCCCAAAAAACTTCCTTAGCCTCCCCACTGGATGGACAAAAAGCCTGAGGTTGAGGGGGTCACATGAATCACCTGGGGATCTTGTTAAAATGAAGGTTCTGATTCAGCAGGTCTGCAGCAGTGCCTGAGACTATATTCCTAACAAGCTCCAAAGATGCTGGTTTAGAGACCACACTTTGTTGTTGTTATTTTTCTTTTTAGACTGAGTCTCACTCTGTTGCCCAGGCCAGAGTGCAGTGGTGCAACCTCAGCTTGCTGCAACCTCAGCCTCCCGAGTAGCTGGGACTACAAGCACGCGCCACCACGCCCGGCTAATTTTTGTGTTTTTAGTAGAAACGAGGTTTTGCCATGTTGGCCAGGCTGGTCTCGAACTCCTGACCTCAGGTGATCCACCCGCCTTGGCCTCCCCAAGTGCCAGGATTACAGGTGTTTGAGTCACGTCGCCTGGCCAGGGACCACATGTTGAATAGAGAGGGGTTAAGCAGAAGGGATGGCCAGAGAGCAGCATATTAACCTTGGTTTCTGGCCTCCTAGCCTGATGTAGTAAGACTGGGATATTCCCCTCCCTACAAATGTCTGTGTCTCTGGAAATGACTCAGGGATTCTGTCCAAGACTGCAAGCCCTGAGAAGCTGTGTTTGACTCATCTCTGTGCCCCTAAGCCTGAGGTAGGGACTCAGCCCATTTGCTGGCTCATGACTAAGAAAACTCATAGAGCAGAAATAAAAGGGCCCACCTGGTTTGGTCTTAGCTCTGCAATGTCTCCAACCACTAGACTCTCCATCAGCTTCACCCGGTCACTACCAAGTATCTTGGTCTGGGGAAGAGATTGAAAGCCTCAGGCCATTGCAACAGCTACAATCCAAAAGGCTACTAAGCAAGGATGCATCCTCCCTGCCATCCACAGTGCAGTCCAGCCCACCCAAAGTGACTAACCAGTCTTTTGGTTCTACACGTGGCAAAGGACCACCTTCTGATTTCCTGACCTCCCCCAGTCACTCTGTGTGGGGGGACTGCCAGGGAACTGGACAGGACCTAGCACCTTCCTGAAATAACCCCTTTTCAAACCAACATCCAGCCCAATACATGAGAGTGGGTGTCAGCCCTGGAAAACCCGGGACATTAAGGCACACCATTTAATGGGGGCAAGCTAGAAGGATGAGATGATGAGACCCTCTGAGCTCATTTCCTTGGGGCCATTGACCTATCCATGACACCCCCATGACCTCTAGCTCTTCTGAGAAGGCTGTCCTTGGAATCCAGTTCACAGCAAACAAAGCCAAGGAGTGGACCACTGTAAACAGGGAGGAAGGCCTGATCAGATGGCCAGTGTGCTCCCCTGGCTCACCTGCAGCATACGAGACACGTCAAAGAGCGAGCAGTGCTGGCGTGTGTGCAGGTGCGAGTCAGTGTGACTGTCCCGGTACTGCACTGGCAGACTCCAACCCGCAAACGCCACCATTTTCCCGCCGTGGGCCAGGTGGAAGTCATAGAGCGGTGTCCTGCGGAGCACCTCCTGTGGGCGGCTGGGCTTAGTGCCACCAGGGCCCTAGCCCCCAGCCGCTTCCCTCCCCCACCCTCCAAGATCAGCACCCTCTATCCCACCTGTGCGCAACTAAGTGGACGACACAAGGCCGGGGGGAATGCCTGCAGGCGAAAGCCCAGACGGGCCACCACACTTACAGCCCTCTGCATCGTCGCCTGCAACGAGTGCAGACGGCGCACAGAGGCCACCACACTGCCAGGCACGCCGGGAGATGTAGTCCAGGCCTCTGCTCGGACAGGTCTCTCTCCGGAGCAAAGGATCTGAAGGGGGCGTGGGCAGCCCCAAGGGCAGGCTGGGATTTAGAGCAGAGAATGCAGGAACCCGCAACCACAGGGAAGAAGCCTCCAGCTCTTTCGGCTGACTCTTCAGGGCAGCTCGGGCAATCCAGAGCTGATTGGGCTGCCCAGAACAAAGCTAGGGGCTAGACCGCCCCCTGCAGAACCGCCCTGTCTCCAGAGGGTCAAAGTTCTGGAAAGGGCTGAAAGGTCTGAATCATACCTTTAGGACCTCAAGAGAGTAAGGTCAAGTGGGGGTGGGGAAGGTGGGCCAGCCTGGCAGGTAGGCAGCACCACAGTAGTCTGTCCTCATGTGGACCCCTAGTTCCACAGCTCTCCCACCAGGCAGACACAGGCAGCCAGCAGTCATGCATTCCACAAGTATTTATTGATCTTACTGCATACCAGGCCCTCAGATGGGGACACAGCCACGAATGAAGCATGGTCCCTGCTACCACAAGGTCCTCTTCACTTACACACACACTGAGGACTACTGCTTCGTCACGCTTTCCGAAGCAGCTGAGTGGGGCTATGTAAGTGACCTTGCAGATGAAGTCGCCACCTGCAAGAACTCACAGGTGAGAACAGAGGGTGGCCACCAAAAGGTCACTGAACTCCCCCGAGAAAACTGTTGAGCCACACACATGTCCAACTTTCCAGGTCCAAGACATACTGCAGTACTGCTTTGTAATAGCCACCAGGTGCAAAGCCAGGAAGAACCAGAGGGAAACAGGTTTTTCTCACATGAGGGAAGAGCAGCCTGCATCACTTAATGGTTGGACTGAGTTAATGCAGGACTTAGGCCTCTTAAAAGGCAACAATGAGAACCCTTACTTGGACCCACTCCCCACCACGGTTGATCTCTCATTATGCTGAGCATATCTCTTGGAAAGGGGCAGGGCGGGCGCGGTGGCTCATGCCTGTAATCCCAGCACTTTGGAAGGCCAAGGCAGGCAGATCACCTGAGGTCAGGTGTTTGAGACCAGCCTGACCAACATGGAGAAACCCCATCTCTACTACAAATACAAAATTAGCCAGGCATGGTGATGCATGACTGTAATCCCAGCTACTCGGGAGACTGAGGCAGGAGAATTGCTTGAACCTGGGAGGCGGAGGTTGCAGTTAGCCAAGATTGCACTATTGCACTCCAGCCTGGGCAACAAGAGCAAAACTCAACCTCAAAAAAAACAACAAAAAAGGAGAGGGGCAACTGGGAGAAAGGATAGAGATGTGCTTTGGGCTATGTCAGATGGCAGAAGGGTCCCAGTTCTTTTTTTTTTGTTTGTTTGTTTAAGATGGAGTTTCGCTCTTCTTGCCCAGGCTGGAGTGCAATGGCATGATCTCAGGTCCGCAACCTCCACTTCCCGGGTTCAAGAGATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGATTACAGGTGCCTACCACCACGCCCAGCTAATTTTTTGTATTTTTAGTAGAGACGGGGTTTCTCCAGGTTGGTCAGGCTGGTCTTGAACTCCTGACCTCAGGTGATCCGCCTGCCTGGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACTGCACCCTGCCTAGAAGGGTCC
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Task1_train_7018
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This mutation is located in gene AMT (aminomethyltransferase) on Chromosome 3. Is it associated with a disease or is it a benign polymorphism?
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Pathogenic; Glycine encephalopathy
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CTAGAACACAGAGGGGGTATACCTGCATGAGGGCCAAATCTTTCTCCCAGCAGCCAGCGTTGGACACCACATACAGGTGGCCCTCAGAAGTATTGGTTACAATCAAGTCATCTAAGATGCCTCCAGCCTCGTTGGTAAACAGCGACAGTGTCCCCTAGGACCAAAGTGGAGCGTTTTGGCTTCCAGGTCCAGGAGGGCAAGGCCAAGGGTGAGCCAGACACAACCCTGGACCCACTTAGTTACCAAAAGGTTATGAACCCTAATGTGAAGGACTCAGGGTGTGCAAGGTACAAGTCTGGGCCCAAGTCCAAGGTCTTTGATCCTCATGCATCAAGTAAGTTTTCATCCCCTCCCTACCTTGGGGTGCTTCCCTGATCTGGTGCAACCTCTGCACCCCTCCCCACTCTGTACTGAGAGTCCCATCTGACACTTAATCTATGACACCTAGGACCTGCTGCTTCACCTACCCAAACCTGGGACGACTTAGCCCATGTGGCAACCCACAGGACAAAAGCTTCAAAGGTCATCTTGATGATCGCAGGCTCTCCTAAGTACTCCATAGCAATGCCCCCAAAAAACTTCCTTAGCCTCCCCACTGGATGGACAAAAAGCCTGAGGTTGAGGGGGTCACATGAATCACCTGGGGATCTTGTTAAAATGAAGGTTCTGATTCAGCAGGTCTGCAGCAGTGCCTGAGACTATATTCCTAACAAGCTCCAAAGATGCTGGTTTAGAGACCACACTTTGTTGTTGTTATTTTTCTTTTTAGACTGAGTCTCACTCTGTTGCCCAGGCCAGAGTGCAGTGGTGCAACCTCAGCTTGCTGCAACCTCAGCCTCCCGAGTAGCTGGGACTACAAGCACGCGCCACCACGCCCGGCTAATTTTTGTGTTTTTAGTAGAAACGAGGTTTTGCCATGTTGGCCAGGCTGGTCTCGAACTCCTGACCTCAGGTGATCCACCCGCCTTGGCCTCCCCAAGTGCCAGGATTACAGGTGTTTGAGTCACGTCGCCTGGCCAGGGACCACATGTTGAATAGAGAGGGGTTAAGCAGAAGGGATGGCCAGAGAGCAGCATATTAACCTTGGTTTCTGGCCTCCTAGCCTGATGTAGTAAGACTGGGATATTCCCCTCCCTACAAATGTCTGTGTCTCTGGAAATGACTCAGGGATTCTGTCCAAGACTGCAAGCCCTGAGAAGCTGTGTTTGACTCATCTCTGTGCCCCTAAGCCTGAGGTAGGGACTCAGCCCATTTGCTGGCTCATGACTAAGAAAACTCATAGAGCAGAAATAAAAGGGCCCACCTGGTTTGGTCTTAGCTCTGCAATGTCTCCAACCACTAGACTCTCCATCAGCTTCACCCGGTCACTACCAAGTATCTTGGTCTGGGGAAGAGATTGAAAGCCTCAGGCCATTGCAACAGCTACAATCCAAAAGGCTACTAAGCAAGGATGCATCCTCCCTGCCATCCACAGTGCAGTCCAGCCCACCCAAAGTGACTAACCAGTCTTTTGGTTCTACACGTGGCAAAGGACCACCTTCTGATTTCCTGACCTCCCCCAGTCACTCTGTGTGGGGGGACTGCCAGGGAACTGGACAGGACCTAGCACCTTCCTGAAATAACCCCTTTTCAAACCAACATCCAGCCCAATACATGAGAGTGGGTGTCAGCCCTGGAAAACCCGGGACATTAAGGCACACCATTTAATGGGGGCAAGCTAGAAGGATGAGATGATGAGACCCTCTGAGCTCATTTCCTTGGGGCCATTGACCTATCCATGACACCCCCATGACCTCTAGCTCTTCTGAGAAGGCTGTCCTTGGAATCCAGTTCACAGCAAACAAAGCCAAGGAGTGGACCACTGTAAACAGGGAGGAAGGCCTGATCAGATGGCCAGTGTGCTCCCCTGGCTCACCTGCAGCATATGAGACACGTCAAAGAGCGAGCAGTGCTGGCGTGTGTGCAGGTGCGAGTCAGTGTGACTGTCCCGGTACTGCACTGGCAGACTCCAACCCGCAAACGCCACCATTTTCCCGCCGTGGGCCAGGTGGAAGTCATAGAGCGGTGTCCTGCGGAGCACCTCCTGTGGGCGGCTGGGCTTAGTGCCACCAGGGCCCTAGCCCCCAGCCGCTTCCCTCCCCCACCCTCCAAGATCAGCACCCTCTATCCCACCTGTGCGCAACTAAGTGGACGACACAAGGCCGGGGGGAATGCCTGCAGGCGAAAGCCCAGACGGGCCACCACACTTACAGCCCTCTGCATCGTCGCCTGCAACGAGTGCAGACGGCGCACAGAGGCCACCACACTGCCAGGCACGCCGGGAGATGTAGTCCAGGCCTCTGCTCGGACAGGTCTCTCTCCGGAGCAAAGGATCTGAAGGGGGCGTGGGCAGCCCCAAGGGCAGGCTGGGATTTAGAGCAGAGAATGCAGGAACCCGCAACCACAGGGAAGAAGCCTCCAGCTCTTTCGGCTGACTCTTCAGGGCAGCTCGGGCAATCCAGAGCTGATTGGGCTGCCCAGAACAAAGCTAGGGGCTAGACCGCCCCCTGCAGAACCGCCCTGTCTCCAGAGGGTCAAAGTTCTGGAAAGGGCTGAAAGGTCTGAATCATACCTTTAGGACCTCAAGAGAGTAAGGTCAAGTGGGGGTGGGGAAGGTGGGCCAGCCTGGCAGGTAGGCAGCACCACAGTAGTCTGTCCTCATGTGGACCCCTAGTTCCACAGCTCTCCCACCAGGCAGACACAGGCAGCCAGCAGTCATGCATTCCACAAGTATTTATTGATCTTACTGCATACCAGGCCCTCAGATGGGGACACAGCCACGAATGAAGCATGGTCCCTGCTACCACAAGGTCCTCTTCACTTACACACACACTGAGGACTACTGCTTCGTCACGCTTTCCGAAGCAGCTGAGTGGGGCTATGTAAGTGACCTTGCAGATGAAGTCGCCACCTGCAAGAACTCACAGGTGAGAACAGAGGGTGGCCACCAAAAGGTCACTGAACTCCCCCGAGAAAACTGTTGAGCCACACACATGTCCAACTTTCCAGGTCCAAGACATACTGCAGTACTGCTTTGTAATAGCCACCAGGTGCAAAGCCAGGAAGAACCAGAGGGAAACAGGTTTTTCTCACATGAGGGAAGAGCAGCCTGCATCACTTAATGGTTGGACTGAGTTAATGCAGGACTTAGGCCTCTTAAAAGGCAACAATGAGAACCCTTACTTGGACCCACTCCCCACCACGGTTGATCTCTCATTATGCTGAGCATATCTCTTGGAAAGGGGCAGGGCGGGCGCGGTGGCTCATGCCTGTAATCCCAGCACTTTGGAAGGCCAAGGCAGGCAGATCACCTGAGGTCAGGTGTTTGAGACCAGCCTGACCAACATGGAGAAACCCCATCTCTACTACAAATACAAAATTAGCCAGGCATGGTGATGCATGACTGTAATCCCAGCTACTCGGGAGACTGAGGCAGGAGAATTGCTTGAACCTGGGAGGCGGAGGTTGCAGTTAGCCAAGATTGCACTATTGCACTCCAGCCTGGGCAACAAGAGCAAAACTCAACCTCAAAAAAAACAACAAAAAAGGAGAGGGGCAACTGGGAGAAAGGATAGAGATGTGCTTTGGGCTATGTCAGATGGCAGAAGGGTCCCAGTTCTTTTTTTTTTGTTTGTTTGTTTAAGATGGAGTTTCGCTCTTCTTGCCCAGGCTGGAGTGCAATGGCATGATCTCAGGTCCGCAACCTCCACTTCCCGGGTTCAAGAGATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGATTACAGGTGCCTACCACCACGCCCAGCTAATTTTTTGTATTTTTAGTAGAGACGGGGTTTCTCCAGGTTGGTCAGGCTGGTCTTGAACTCCTGACCTCAGGTGATCCGCCTGCCTGGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACTGCACCCTGCCTAGAAGGGTCCCAGTTCTTATGCTCAGGCCCTGGTTTTGCTAGAGACACGTGCCCAGGCCCTATGGGCACACCCACTTGAACATATATTCAGGAGCCAGCTCAGAAACCAAGAGACTCAGGCTGCCCAAATCTT
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CTAGAACACAGAGGGGGTATACCTGCATGAGGGCCAAATCTTTCTCCCAGCAGCCAGCGTTGGACACCACATACAGGTGGCCCTCAGAAGTATTGGTTACAATCAAGTCATCTAAGATGCCTCCAGCCTCGTTGGTAAACAGCGACAGTGTCCCCTAGGACCAAAGTGGAGCGTTTTGGCTTCCAGGTCCAGGAGGGCAAGGCCAAGGGTGAGCCAGACACAACCCTGGACCCACTTAGTTACCAAAAGGTTATGAACCCTAATGTGAAGGACTCAGGGTGTGCAAGGTACAAGTCTGGGCCCAAGTCCAAGGTCTTTGATCCTCATGCATCAAGTAAGTTTTCATCCCCTCCCTACCTTGGGGTGCTTCCCTGATCTGGTGCAACCTCTGCACCCCTCCCCACTCTGTACTGAGAGTCCCATCTGACACTTAATCTATGACACCTAGGACCTGCTGCTTCACCTACCCAAACCTGGGACGACTTAGCCCATGTGGCAACCCACAGGACAAAAGCTTCAAAGGTCATCTTGATGATCGCAGGCTCTCCTAAGTACTCCATAGCAATGCCCCCAAAAAACTTCCTTAGCCTCCCCACTGGATGGACAAAAAGCCTGAGGTTGAGGGGGTCACATGAATCACCTGGGGATCTTGTTAAAATGAAGGTTCTGATTCAGCAGGTCTGCAGCAGTGCCTGAGACTATATTCCTAACAAGCTCCAAAGATGCTGGTTTAGAGACCACACTTTGTTGTTGTTATTTTTCTTTTTAGACTGAGTCTCACTCTGTTGCCCAGGCCAGAGTGCAGTGGTGCAACCTCAGCTTGCTGCAACCTCAGCCTCCCGAGTAGCTGGGACTACAAGCACGCGCCACCACGCCCGGCTAATTTTTGTGTTTTTAGTAGAAACGAGGTTTTGCCATGTTGGCCAGGCTGGTCTCGAACTCCTGACCTCAGGTGATCCACCCGCCTTGGCCTCCCCAAGTGCCAGGATTACAGGTGTTTGAGTCACGTCGCCTGGCCAGGGACCACATGTTGAATAGAGAGGGGTTAAGCAGAAGGGATGGCCAGAGAGCAGCATATTAACCTTGGTTTCTGGCCTCCTAGCCTGATGTAGTAAGACTGGGATATTCCCCTCCCTACAAATGTCTGTGTCTCTGGAAATGACTCAGGGATTCTGTCCAAGACTGCAAGCCCTGAGAAGCTGTGTTTGACTCATCTCTGTGCCCCTAAGCCTGAGGTAGGGACTCAGCCCATTTGCTGGCTCATGACTAAGAAAACTCATAGAGCAGAAATAAAAGGGCCCACCTGGTTTGGTCTTAGCTCTGCAATGTCTCCAACCACTAGACTCTCCATCAGCTTCACCCGGTCACTACCAAGTATCTTGGTCTGGGGAAGAGATTGAAAGCCTCAGGCCATTGCAACAGCTACAATCCAAAAGGCTACTAAGCAAGGATGCATCCTCCCTGCCATCCACAGTGCAGTCCAGCCCACCCAAAGTGACTAACCAGTCTTTTGGTTCTACACGTGGCAAAGGACCACCTTCTGATTTCCTGACCTCCCCCAGTCACTCTGTGTGGGGGGACTGCCAGGGAACTGGACAGGACCTAGCACCTTCCTGAAATAACCCCTTTTCAAACCAACATCCAGCCCAATACATGAGAGTGGGTGTCAGCCCTGGAAAACCCGGGACATTAAGGCACACCATTTAATGGGGGCAAGCTAGAAGGATGAGATGATGAGACCCTCTGAGCTCATTTCCTTGGGGCCATTGACCTATCCATGACACCCCCATGACCTCTAGCTCTTCTGAGAAGGCTGTCCTTGGAATCCAGTTCACAGCAAACAAAGCCAAGGAGTGGACCACTGTAAACAGGGAGGAAGGCCTGATCAGATGGCCAGTGTGCTCCCCTGGCTCACCTGCAGCATATGAGACACGTCAAAGAGCGAGCAGTGCTGGCGTGTGTGCAGGTGCGAGTCAGTGTGACTGTCCCGGTACTGCACTGGCAGACTCCAACCCGCAAACGCCACCATTTTCCCGCCGTGGGCCAGGCGGAAGTCATAGAGCGGTGTCCTGCGGAGCACCTCCTGTGGGCGGCTGGGCTTAGTGCCACCAGGGCCCTAGCCCCCAGCCGCTTCCCTCCCCCACCCTCCAAGATCAGCACCCTCTATCCCACCTGTGCGCAACTAAGTGGACGACACAAGGCCGGGGGGAATGCCTGCAGGCGAAAGCCCAGACGGGCCACCACACTTACAGCCCTCTGCATCGTCGCCTGCAACGAGTGCAGACGGCGCACAGAGGCCACCACACTGCCAGGCACGCCGGGAGATGTAGTCCAGGCCTCTGCTCGGACAGGTCTCTCTCCGGAGCAAAGGATCTGAAGGGGGCGTGGGCAGCCCCAAGGGCAGGCTGGGATTTAGAGCAGAGAATGCAGGAACCCGCAACCACAGGGAAGAAGCCTCCAGCTCTTTCGGCTGACTCTTCAGGGCAGCTCGGGCAATCCAGAGCTGATTGGGCTGCCCAGAACAAAGCTAGGGGCTAGACCGCCCCCTGCAGAACCGCCCTGTCTCCAGAGGGTCAAAGTTCTGGAAAGGGCTGAAAGGTCTGAATCATACCTTTAGGACCTCAAGAGAGTAAGGTCAAGTGGGGGTGGGGAAGGTGGGCCAGCCTGGCAGGTAGGCAGCACCACAGTAGTCTGTCCTCATGTGGACCCCTAGTTCCACAGCTCTCCCACCAGGCAGACACAGGCAGCCAGCAGTCATGCATTCCACAAGTATTTATTGATCTTACTGCATACCAGGCCCTCAGATGGGGACACAGCCACGAATGAAGCATGGTCCCTGCTACCACAAGGTCCTCTTCACTTACACACACACTGAGGACTACTGCTTCGTCACGCTTTCCGAAGCAGCTGAGTGGGGCTATGTAAGTGACCTTGCAGATGAAGTCGCCACCTGCAAGAACTCACAGGTGAGAACAGAGGGTGGCCACCAAAAGGTCACTGAACTCCCCCGAGAAAACTGTTGAGCCACACACATGTCCAACTTTCCAGGTCCAAGACATACTGCAGTACTGCTTTGTAATAGCCACCAGGTGCAAAGCCAGGAAGAACCAGAGGGAAACAGGTTTTTCTCACATGAGGGAAGAGCAGCCTGCATCACTTAATGGTTGGACTGAGTTAATGCAGGACTTAGGCCTCTTAAAAGGCAACAATGAGAACCCTTACTTGGACCCACTCCCCACCACGGTTGATCTCTCATTATGCTGAGCATATCTCTTGGAAAGGGGCAGGGCGGGCGCGGTGGCTCATGCCTGTAATCCCAGCACTTTGGAAGGCCAAGGCAGGCAGATCACCTGAGGTCAGGTGTTTGAGACCAGCCTGACCAACATGGAGAAACCCCATCTCTACTACAAATACAAAATTAGCCAGGCATGGTGATGCATGACTGTAATCCCAGCTACTCGGGAGACTGAGGCAGGAGAATTGCTTGAACCTGGGAGGCGGAGGTTGCAGTTAGCCAAGATTGCACTATTGCACTCCAGCCTGGGCAACAAGAGCAAAACTCAACCTCAAAAAAAACAACAAAAAAGGAGAGGGGCAACTGGGAGAAAGGATAGAGATGTGCTTTGGGCTATGTCAGATGGCAGAAGGGTCCCAGTTCTTTTTTTTTTGTTTGTTTGTTTAAGATGGAGTTTCGCTCTTCTTGCCCAGGCTGGAGTGCAATGGCATGATCTCAGGTCCGCAACCTCCACTTCCCGGGTTCAAGAGATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGATTACAGGTGCCTACCACCACGCCCAGCTAATTTTTTGTATTTTTAGTAGAGACGGGGTTTCTCCAGGTTGGTCAGGCTGGTCTTGAACTCCTGACCTCAGGTGATCCGCCTGCCTGGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACTGCACCCTGCCTAGAAGGGTCCCAGTTCTTATGCTCAGGCCCTGGTTTTGCTAGAGACACGTGCCCAGGCCCTATGGGCACACCCACTTGAACATATATTCAGGAGCCAGCTCAGAAACCAAGAGACTCAGGCTGCCCAAATCTT
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Task1_train_7019
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A sequence alteration has been identified in AMT (aminomethyltransferase) on Chromosome 3. Is it disease-inducing or harmless?
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Pathogenic; Glycine encephalopathy 1
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CTAGAACACAGAGGGGGTATACCTGCATGAGGGCCAAATCTTTCTCCCAGCAGCCAGCGTTGGACACCACATACAGGTGGCCCTCAGAAGTATTGGTTACAATCAAGTCATCTAAGATGCCTCCAGCCTCGTTGGTAAACAGCGACAGTGTCCCCTAGGACCAAAGTGGAGCGTTTTGGCTTCCAGGTCCAGGAGGGCAAGGCCAAGGGTGAGCCAGACACAACCCTGGACCCACTTAGTTACCAAAAGGTTATGAACCCTAATGTGAAGGACTCAGGGTGTGCAAGGTACAAGTCTGGGCCCAAGTCCAAGGTCTTTGATCCTCATGCATCAAGTAAGTTTTCATCCCCTCCCTACCTTGGGGTGCTTCCCTGATCTGGTGCAACCTCTGCACCCCTCCCCACTCTGTACTGAGAGTCCCATCTGACACTTAATCTATGACACCTAGGACCTGCTGCTTCACCTACCCAAACCTGGGACGACTTAGCCCATGTGGCAACCCACAGGACAAAAGCTTCAAAGGTCATCTTGATGATCGCAGGCTCTCCTAAGTACTCCATAGCAATGCCCCCAAAAAACTTCCTTAGCCTCCCCACTGGATGGACAAAAAGCCTGAGGTTGAGGGGGTCACATGAATCACCTGGGGATCTTGTTAAAATGAAGGTTCTGATTCAGCAGGTCTGCAGCAGTGCCTGAGACTATATTCCTAACAAGCTCCAAAGATGCTGGTTTAGAGACCACACTTTGTTGTTGTTATTTTTCTTTTTAGACTGAGTCTCACTCTGTTGCCCAGGCCAGAGTGCAGTGGTGCAACCTCAGCTTGCTGCAACCTCAGCCTCCCGAGTAGCTGGGACTACAAGCACGCGCCACCACGCCCGGCTAATTTTTGTGTTTTTAGTAGAAACGAGGTTTTGCCATGTTGGCCAGGCTGGTCTCGAACTCCTGACCTCAGGTGATCCACCCGCCTTGGCCTCCCCAAGTGCCAGGATTACAGGTGTTTGAGTCACGTCGCCTGGCCAGGGACCACATGTTGAATAGAGAGGGGTTAAGCAGAAGGGATGGCCAGAGAGCAGCATATTAACCTTGGTTTCTGGCCTCCTAGCCTGATGTAGTAAGACTGGGATATTCCCCTCCCTACAAATGTCTGTGTCTCTGGAAATGACTCAGGGATTCTGTCCAAGACTGCAAGCCCTGAGAAGCTGTGTTTGACTCATCTCTGTGCCCCTAAGCCTGAGGTAGGGACTCAGCCCATTTGCTGGCTCATGACTAAGAAAACTCATAGAGCAGAAATAAAAGGGCCCACCTGGTTTGGTCTTAGCTCTGCAATGTCTCCAACCACTAGACTCTCCATCAGCTTCACCCGGTCACTACCAAGTATCTTGGTCTGGGGAAGAGATTGAAAGCCTCAGGCCATTGCAACAGCTACAATCCAAAAGGCTACTAAGCAAGGATGCATCCTCCCTGCCATCCACAGTGCAGTCCAGCCCACCCAAAGTGACTAACCAGTCTTTTGGTTCTACACGTGGCAAAGGACCACCTTCTGATTTCCTGACCTCCCCCAGTCACTCTGTGTGGGGGGACTGCCAGGGAACTGGACAGGACCTAGCACCTTCCTGAAATAACCCCTTTTCAAACCAACATCCAGCCCAATACATGAGAGTGGGTGTCAGCCCTGGAAAACCCGGGACATTAAGGCACACCATTTAATGGGGGCAAGCTAGAAGGATGAGATGATGAGACCCTCTGAGCTCATTTCCTTGGGGCCATTGACCTATCCATGACACCCCCATGACCTCTAGCTCTTCTGAGAAGGCTGTCCTTGGAATCCAGTTCACAGCAAACAAAGCCAAGGAGTGGACCACTGTAAACAGGGAGGAAGGCCTGATCAGATGGCCAGTGTGCTCCCCTGGCTCACCTGCAGCATATGAGACACGTCAAAGAGCGAGCAGTGCTGGCGTGTGTGCAGGTGCGAGTCAGTGTGACTGTCCCGGTACTGCACTGGCAGACTCCAACCCGCAAACGCCACCATTTTCCCGCCGTGGGCCAGGTGGAAGTCATAGAGCGGTGTCCTGCGGAGCACCTCCTGTGGGCGGCTGGGCTTAGTGCCACCAGGGCCCTAGCCCCCAGCCGCTTCCCTCCCCCACCCTCCAAGATCAGCACCCTCTATCCCACCTGTGCGCAACTAAGTGGACGACACAAGGCCGGGGGGAATGCCTGCAGGCGAAAGCCCAGACGGGCCACCACACTTACAGCCCTCTGCATCGTCGCCTGCAACGAGTGCAGACGGCGCACAGAGGCCACCACACTGCCAGGCACGCCGGGAGATGTAGTCCAGGCCTCTGCTCGGACAGGTCTCTCTCCGGAGCAAAGGATCTGAAGGGGGCGTGGGCAGCCCCAAGGGCAGGCTGGGATTTAGAGCAGAGAATGCAGGAACCCGCAACCACAGGGAAGAAGCCTCCAGCTCTTTCGGCTGACTCTTCAGGGCAGCTCGGGCAATCCAGAGCTGATTGGGCTGCCCAGAACAAAGCTAGGGGCTAGACCGCCCCCTGCAGAACCGCCCTGTCTCCAGAGGGTCAAAGTTCTGGAAAGGGCTGAAAGGTCTGAATCATACCTTTAGGACCTCAAGAGAGTAAGGTCAAGTGGGGGTGGGGAAGGTGGGCCAGCCTGGCAGGTAGGCAGCACCACAGTAGTCTGTCCTCATGTGGACCCCTAGTTCCACAGCTCTCCCACCAGGCAGACACAGGCAGCCAGCAGTCATGCATTCCACAAGTATTTATTGATCTTACTGCATACCAGGCCCTCAGATGGGGACACAGCCACGAATGAAGCATGGTCCCTGCTACCACAAGGTCCTCTTCACTTACACACACACTGAGGACTACTGCTTCGTCACGCTTTCCGAAGCAGCTGAGTGGGGCTATGTAAGTGACCTTGCAGATGAAGTCGCCACCTGCAAGAACTCACAGGTGAGAACAGAGGGTGGCCACCAAAAGGTCACTGAACTCCCCCGAGAAAACTGTTGAGCCACACACATGTCCAACTTTCCAGGTCCAAGACATACTGCAGTACTGCTTTGTAATAGCCACCAGGTGCAAAGCCAGGAAGAACCAGAGGGAAACAGGTTTTTCTCACATGAGGGAAGAGCAGCCTGCATCACTTAATGGTTGGACTGAGTTAATGCAGGACTTAGGCCTCTTAAAAGGCAACAATGAGAACCCTTACTTGGACCCACTCCCCACCACGGTTGATCTCTCATTATGCTGAGCATATCTCTTGGAAAGGGGCAGGGCGGGCGCGGTGGCTCATGCCTGTAATCCCAGCACTTTGGAAGGCCAAGGCAGGCAGATCACCTGAGGTCAGGTGTTTGAGACCAGCCTGACCAACATGGAGAAACCCCATCTCTACTACAAATACAAAATTAGCCAGGCATGGTGATGCATGACTGTAATCCCAGCTACTCGGGAGACTGAGGCAGGAGAATTGCTTGAACCTGGGAGGCGGAGGTTGCAGTTAGCCAAGATTGCACTATTGCACTCCAGCCTGGGCAACAAGAGCAAAACTCAACCTCAAAAAAAACAACAAAAAAGGAGAGGGGCAACTGGGAGAAAGGATAGAGATGTGCTTTGGGCTATGTCAGATGGCAGAAGGGTCCCAGTTCTTTTTTTTTTGTTTGTTTGTTTAAGATGGAGTTTCGCTCTTCTTGCCCAGGCTGGAGTGCAATGGCATGATCTCAGGTCCGCAACCTCCACTTCCCGGGTTCAAGAGATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGATTACAGGTGCCTACCACCACGCCCAGCTAATTTTTTGTATTTTTAGTAGAGACGGGGTTTCTCCAGGTTGGTCAGGCTGGTCTTGAACTCCTGACCTCAGGTGATCCGCCTGCCTGGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACTGCACCCTGCCTAGAAGGGTCCCAGTTCTTATGCTCAGGCCCTGGTTTTGCTAGAGACACGTGCCCAGGCCCTATGGGCACACCCACTTGAACATATATTCAGGAGCCAGCTCAGAAACCAAGAGACTCAGGCTGCCCAAATCTT
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CTAGAACACAGAGGGGGTATACCTGCATGAGGGCCAAATCTTTCTCCCAGCAGCCAGCGTTGGACACCACATACAGGTGGCCCTCAGAAGTATTGGTTACAATCAAGTCATCTAAGATGCCTCCAGCCTCGTTGGTAAACAGCGACAGTGTCCCCTAGGACCAAAGTGGAGCGTTTTGGCTTCCAGGTCCAGGAGGGCAAGGCCAAGGGTGAGCCAGACACAACCCTGGACCCACTTAGTTACCAAAAGGTTATGAACCCTAATGTGAAGGACTCAGGGTGTGCAAGGTACAAGTCTGGGCCCAAGTCCAAGGTCTTTGATCCTCATGCATCAAGTAAGTTTTCATCCCCTCCCTACCTTGGGGTGCTTCCCTGATCTGGTGCAACCTCTGCACCCCTCCCCACTCTGTACTGAGAGTCCCATCTGACACTTAATCTATGACACCTAGGACCTGCTGCTTCACCTACCCAAACCTGGGACGACTTAGCCCATGTGGCAACCCACAGGACAAAAGCTTCAAAGGTCATCTTGATGATCGCAGGCTCTCCTAAGTACTCCATAGCAATGCCCCCAAAAAACTTCCTTAGCCTCCCCACTGGATGGACAAAAAGCCTGAGGTTGAGGGGGTCACATGAATCACCTGGGGATCTTGTTAAAATGAAGGTTCTGATTCAGCAGGTCTGCAGCAGTGCCTGAGACTATATTCCTAACAAGCTCCAAAGATGCTGGTTTAGAGACCACACTTTGTTGTTGTTATTTTTCTTTTTAGACTGAGTCTCACTCTGTTGCCCAGGCCAGAGTGCAGTGGTGCAACCTCAGCTTGCTGCAACCTCAGCCTCCCGAGTAGCTGGGACTACAAGCACGCGCCACCACGCCCGGCTAATTTTTGTGTTTTTAGTAGAAACGAGGTTTTGCCATGTTGGCCAGGCTGGTCTCGAACTCCTGACCTCAGGTGATCCACCCGCCTTGGCCTCCCCAAGTGCCAGGATTACAGGTGTTTGAGTCACGTCGCCTGGCCAGGGACCACATGTTGAATAGAGAGGGGTTAAGCAGAAGGGATGGCCAGAGAGCAGCATATTAACCTTGGTTTCTGGCCTCCTAGCCTGATGTAGTAAGACTGGGATATTCCCCTCCCTACAAATGTCTGTGTCTCTGGAAATGACTCAGGGATTCTGTCCAAGACTGCAAGCCCTGAGAAGCTGTGTTTGACTCATCTCTGTGCCCCTAAGCCTGAGGTAGGGACTCAGCCCATTTGCTGGCTCATGACTAAGAAAACTCATAGAGCAGAAATAAAAGGGCCCACCTGGTTTGGTCTTAGCTCTGCAATGTCTCCAACCACTAGACTCTCCATCAGCTTCACCCGGTCACTACCAAGTATCTTGGTCTGGGGAAGAGATTGAAAGCCTCAGGCCATTGCAACAGCTACAATCCAAAAGGCTACTAAGCAAGGATGCATCCTCCCTGCCATCCACAGTGCAGTCCAGCCCACCCAAAGTGACTAACCAGTCTTTTGGTTCTACACGTGGCAAAGGACCACCTTCTGATTTCCTGACCTCCCCCAGTCACTCTGTGTGGGGGGACTGCCAGGGAACTGGACAGGACCTAGCACCTTCCTGAAATAACCCCTTTTCAAACCAACATCCAGCCCAATACATGAGAGTGGGTGTCAGCCCTGGAAAACCCGGGACATTAAGGCACACCATTTAATGGGGGCAAGCTAGAAGGATGAGATGATGAGACCCTCTGAGCTCATTTCCTTGGGGCCATTGACCTATCCATGACACCCCCATGACCTCTAGCTCTTCTGAGAAGGCTGTCCTTGGAATCCAGTTCACAGCAAACAAAGCCAAGGAGTGGACCACTGTAAACAGGGAGGAAGGCCTGATCAGATGGCCAGTGTGCTCCCCTGGCTCACCTGCAGCATATGAGACACGTCAAAGAGCGAGCAGTGCTGGCGTGTGTGCAGGTGCGAGTCAGTGTGACTGTCCCGGTACTGCACTGGCAGACTCCAACCCGCAAACGCCACCATTTTCCCGCCGTGGGCCAGGCGGAAGTCATAGAGCGGTGTCCTGCGGAGCACCTCCTGTGGGCGGCTGGGCTTAGTGCCACCAGGGCCCTAGCCCCCAGCCGCTTCCCTCCCCCACCCTCCAAGATCAGCACCCTCTATCCCACCTGTGCGCAACTAAGTGGACGACACAAGGCCGGGGGGAATGCCTGCAGGCGAAAGCCCAGACGGGCCACCACACTTACAGCCCTCTGCATCGTCGCCTGCAACGAGTGCAGACGGCGCACAGAGGCCACCACACTGCCAGGCACGCCGGGAGATGTAGTCCAGGCCTCTGCTCGGACAGGTCTCTCTCCGGAGCAAAGGATCTGAAGGGGGCGTGGGCAGCCCCAAGGGCAGGCTGGGATTTAGAGCAGAGAATGCAGGAACCCGCAACCACAGGGAAGAAGCCTCCAGCTCTTTCGGCTGACTCTTCAGGGCAGCTCGGGCAATCCAGAGCTGATTGGGCTGCCCAGAACAAAGCTAGGGGCTAGACCGCCCCCTGCAGAACCGCCCTGTCTCCAGAGGGTCAAAGTTCTGGAAAGGGCTGAAAGGTCTGAATCATACCTTTAGGACCTCAAGAGAGTAAGGTCAAGTGGGGGTGGGGAAGGTGGGCCAGCCTGGCAGGTAGGCAGCACCACAGTAGTCTGTCCTCATGTGGACCCCTAGTTCCACAGCTCTCCCACCAGGCAGACACAGGCAGCCAGCAGTCATGCATTCCACAAGTATTTATTGATCTTACTGCATACCAGGCCCTCAGATGGGGACACAGCCACGAATGAAGCATGGTCCCTGCTACCACAAGGTCCTCTTCACTTACACACACACTGAGGACTACTGCTTCGTCACGCTTTCCGAAGCAGCTGAGTGGGGCTATGTAAGTGACCTTGCAGATGAAGTCGCCACCTGCAAGAACTCACAGGTGAGAACAGAGGGTGGCCACCAAAAGGTCACTGAACTCCCCCGAGAAAACTGTTGAGCCACACACATGTCCAACTTTCCAGGTCCAAGACATACTGCAGTACTGCTTTGTAATAGCCACCAGGTGCAAAGCCAGGAAGAACCAGAGGGAAACAGGTTTTTCTCACATGAGGGAAGAGCAGCCTGCATCACTTAATGGTTGGACTGAGTTAATGCAGGACTTAGGCCTCTTAAAAGGCAACAATGAGAACCCTTACTTGGACCCACTCCCCACCACGGTTGATCTCTCATTATGCTGAGCATATCTCTTGGAAAGGGGCAGGGCGGGCGCGGTGGCTCATGCCTGTAATCCCAGCACTTTGGAAGGCCAAGGCAGGCAGATCACCTGAGGTCAGGTGTTTGAGACCAGCCTGACCAACATGGAGAAACCCCATCTCTACTACAAATACAAAATTAGCCAGGCATGGTGATGCATGACTGTAATCCCAGCTACTCGGGAGACTGAGGCAGGAGAATTGCTTGAACCTGGGAGGCGGAGGTTGCAGTTAGCCAAGATTGCACTATTGCACTCCAGCCTGGGCAACAAGAGCAAAACTCAACCTCAAAAAAAACAACAAAAAAGGAGAGGGGCAACTGGGAGAAAGGATAGAGATGTGCTTTGGGCTATGTCAGATGGCAGAAGGGTCCCAGTTCTTTTTTTTTTGTTTGTTTGTTTAAGATGGAGTTTCGCTCTTCTTGCCCAGGCTGGAGTGCAATGGCATGATCTCAGGTCCGCAACCTCCACTTCCCGGGTTCAAGAGATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGATTACAGGTGCCTACCACCACGCCCAGCTAATTTTTTGTATTTTTAGTAGAGACGGGGTTTCTCCAGGTTGGTCAGGCTGGTCTTGAACTCCTGACCTCAGGTGATCCGCCTGCCTGGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACTGCACCCTGCCTAGAAGGGTCCCAGTTCTTATGCTCAGGCCCTGGTTTTGCTAGAGACACGTGCCCAGGCCCTATGGGCACACCCACTTGAACATATATTCAGGAGCCAGCTCAGAAACCAAGAGACTCAGGCTGCCCAAATCTT
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Task1_train_7020
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This variant affects gene AMT, NICN1 (aminomethyltransferase| nicolin 1, tubulin polyglutamylase complex subunit) located on Chromosome 3. Evaluate its biological effect and specify any disease association.
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Pathogenic; Glycine encephalopathy
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GCCAGACACAACCCTGGACCCACTTAGTTACCAAAAGGTTATGAACCCTAATGTGAAGGACTCAGGGTGTGCAAGGTACAAGTCTGGGCCCAAGTCCAAGGTCTTTGATCCTCATGCATCAAGTAAGTTTTCATCCCCTCCCTACCTTGGGGTGCTTCCCTGATCTGGTGCAACCTCTGCACCCCTCCCCACTCTGTACTGAGAGTCCCATCTGACACTTAATCTATGACACCTAGGACCTGCTGCTTCACCTACCCAAACCTGGGACGACTTAGCCCATGTGGCAACCCACAGGACAAAAGCTTCAAAGGTCATCTTGATGATCGCAGGCTCTCCTAAGTACTCCATAGCAATGCCCCCAAAAAACTTCCTTAGCCTCCCCACTGGATGGACAAAAAGCCTGAGGTTGAGGGGGTCACATGAATCACCTGGGGATCTTGTTAAAATGAAGGTTCTGATTCAGCAGGTCTGCAGCAGTGCCTGAGACTATATTCCTAACAAGCTCCAAAGATGCTGGTTTAGAGACCACACTTTGTTGTTGTTATTTTTCTTTTTAGACTGAGTCTCACTCTGTTGCCCAGGCCAGAGTGCAGTGGTGCAACCTCAGCTTGCTGCAACCTCAGCCTCCCGAGTAGCTGGGACTACAAGCACGCGCCACCACGCCCGGCTAATTTTTGTGTTTTTAGTAGAAACGAGGTTTTGCCATGTTGGCCAGGCTGGTCTCGAACTCCTGACCTCAGGTGATCCACCCGCCTTGGCCTCCCCAAGTGCCAGGATTACAGGTGTTTGAGTCACGTCGCCTGGCCAGGGACCACATGTTGAATAGAGAGGGGTTAAGCAGAAGGGATGGCCAGAGAGCAGCATATTAACCTTGGTTTCTGGCCTCCTAGCCTGATGTAGTAAGACTGGGATATTCCCCTCCCTACAAATGTCTGTGTCTCTGGAAATGACTCAGGGATTCTGTCCAAGACTGCAAGCCCTGAGAAGCTGTGTTTGACTCATCTCTGTGCCCCTAAGCCTGAGGTAGGGACTCAGCCCATTTGCTGGCTCATGACTAAGAAAACTCATAGAGCAGAAATAAAAGGGCCCACCTGGTTTGGTCTTAGCTCTGCAATGTCTCCAACCACTAGACTCTCCATCAGCTTCACCCGGTCACTACCAAGTATCTTGGTCTGGGGAAGAGATTGAAAGCCTCAGGCCATTGCAACAGCTACAATCCAAAAGGCTACTAAGCAAGGATGCATCCTCCCTGCCATCCACAGTGCAGTCCAGCCCACCCAAAGTGACTAACCAGTCTTTTGGTTCTACACGTGGCAAAGGACCACCTTCTGATTTCCTGACCTCCCCCAGTCACTCTGTGTGGGGGGACTGCCAGGGAACTGGACAGGACCTAGCACCTTCCTGAAATAACCCCTTTTCAAACCAACATCCAGCCCAATACATGAGAGTGGGTGTCAGCCCTGGAAAACCCGGGACATTAAGGCACACCATTTAATGGGGGCAAGCTAGAAGGATGAGATGATGAGACCCTCTGAGCTCATTTCCTTGGGGCCATTGACCTATCCATGACACCCCCATGACCTCTAGCTCTTCTGAGAAGGCTGTCCTTGGAATCCAGTTCACAGCAAACAAAGCCAAGGAGTGGACCACTGTAAACAGGGAGGAAGGCCTGATCAGATGGCCAGTGTGCTCCCCTGGCTCACCTGCAGCATATGAGACACGTCAAAGAGCGAGCAGTGCTGGCGTGTGTGCAGGTGCGAGTCAGTGTGACTGTCCCGGTACTGCACTGGCAGACTCCAACCCGCAAACGCCACCATTTTCCCGCCGTGGGCCAGGTGGAAGTCATAGAGCGGTGTCCTGCGGAGCACCTCCTGTGGGCGGCTGGGCTTAGTGCCACCAGGGCCCTAGCCCCCAGCCGCTTCCCTCCCCCACCCTCCAAGATCAGCACCCTCTATCCCACCTGTGCGCAACTAAGTGGACGACACAAGGCCGGGGGGAATGCCTGCAGGCGAAAGCCCAGACGGGCCACCACACTTACAGCCCTCTGCATCGTCGCCTGCAACGAGTGCAGACGGCGCACAGAGGCCACCACACTGCCAGGCACGCCGGGAGATGTAGTCCAGGCCTCTGCTCGGACAGGTCTCTCTCCGGAGCAAAGGATCTGAAGGGGGCGTGGGCAGCCCCAAGGGCAGGCTGGGATTTAGAGCAGAGAATGCAGGAACCCGCAACCACAGGGAAGAAGCCTCCAGCTCTTTCGGCTGACTCTTCAGGGCAGCTCGGGCAATCCAGAGCTGATTGGGCTGCCCAGAACAAAGCTAGGGGCTAGACCGCCCCCTGCAGAACCGCCCTGTCTCCAGAGGGTCAAAGTTCTGGAAAGGGCTGAAAGGTCTGAATCATACCTTTAGGACCTCAAGAGAGTAAGGTCAAGTGGGGGTGGGGAAGGTGGGCCAGCCTGGCAGGTAGGCAGCACCACAGTAGTCTGTCCTCATGTGGACCCCTAGTTCCACAGCTCTCCCACCAGGCAGACACAGGCAGCCAGCAGTCATGCATTCCACAAGTATTTATTGATCTTACTGCATACCAGGCCCTCAGATGGGGACACAGCCACGAATGAAGCATGGTCCCTGCTACCACAAGGTCCTCTTCACTTACACACACACTGAGGACTACTGCTTCGTCACGCTTTCCGAAGCAGCTGAGTGGGGCTATGTAAGTGACCTTGCAGATGAAGTCGCCACCTGCAAGAACTCACAGGTGAGAACAGAGGGTGGCCACCAAAAGGTCACTGAACTCCCCCGAGAAAACTGTTGAGCCACACACATGTCCAACTTTCCAGGTCCAAGACATACTGCAGTACTGCTTTGTAATAGCCACCAGGTGCAAAGCCAGGAAGAACCAGAGGGAAACAGGTTTTTCTCACATGAGGGAAGAGCAGCCTGCATCACTTAATGGTTGGACTGAGTTAATGCAGGACTTAGGCCTCTTAAAAGGCAACAATGAGAACCCTTACTTGGACCCACTCCCCACCACGGTTGATCTCTCATTATGCTGAGCATATCTCTTGGAAAGGGGCAGGGCGGGCGCGGTGGCTCATGCCTGTAATCCCAGCACTTTGGAAGGCCAAGGCAGGCAGATCACCTGAGGTCAGGTGTTTGAGACCAGCCTGACCAACATGGAGAAACCCCATCTCTACTACAAATACAAAATTAGCCAGGCATGGTGATGCATGACTGTAATCCCAGCTACTCGGGAGACTGAGGCAGGAGAATTGCTTGAACCTGGGAGGCGGAGGTTGCAGTTAGCCAAGATTGCACTATTGCACTCCAGCCTGGGCAACAAGAGCAAAACTCAACCTCAAAAAAAACAACAAAAAAGGAGAGGGGCAACTGGGAGAAAGGATAGAGATGTGCTTTGGGCTATGTCAGATGGCAGAAGGGTCCCAGTTCTTTTTTTTTTGTTTGTTTGTTTAAGATGGAGTTTCGCTCTTCTTGCCCAGGCTGGAGTGCAATGGCATGATCTCAGGTCCGCAACCTCCACTTCCCGGGTTCAAGAGATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGATTACAGGTGCCTACCACCACGCCCAGCTAATTTTTTGTATTTTTAGTAGAGACGGGGTTTCTCCAGGTTGGTCAGGCTGGTCTTGAACTCCTGACCTCAGGTGATCCGCCTGCCTGGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACTGCACCCTGCCTAGAAGGGTCCCAGTTCTTATGCTCAGGCCCTGGTTTTGCTAGAGACACGTGCCCAGGCCCTATGGGCACACCCACTTGAACATATATTCAGGAGCCAGCTCAGAAACCAAGAGACTCAGGCTGCCCAAATCTTCAGGTTTCCTTCCTAGGCAGGCAGCAGAAGAGTTCAGACAGGAAATTTCTCTCTGTGGCATAACACAAATGGAAAGAAAACCACTAGGGGACACACAGGAAGAAATAAGGTTTCTGTTTCTTCCTCAAGTGTCCCAAGTGCCATGGCAGCAATGGCCTTCCAGGTCCATACATGGAGCAGGTTTTAGTAGGTCAGCCCAGCCCAACTGCACT
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GCCAGACACAACCCTGGACCCACTTAGTTACCAAAAGGTTATGAACCCTAATGTGAAGGACTCAGGGTGTGCAAGGTACAAGTCTGGGCCCAAGTCCAAGGTCTTTGATCCTCATGCATCAAGTAAGTTTTCATCCCCTCCCTACCTTGGGGTGCTTCCCTGATCTGGTGCAACCTCTGCACCCCTCCCCACTCTGTACTGAGAGTCCCATCTGACACTTAATCTATGACACCTAGGACCTGCTGCTTCACCTACCCAAACCTGGGACGACTTAGCCCATGTGGCAACCCACAGGACAAAAGCTTCAAAGGTCATCTTGATGATCGCAGGCTCTCCTAAGTACTCCATAGCAATGCCCCCAAAAAACTTCCTTAGCCTCCCCACTGGATGGACAAAAAGCCTGAGGTTGAGGGGGTCACATGAATCACCTGGGGATCTTGTTAAAATGAAGGTTCTGATTCAGCAGGTCTGCAGCAGTGCCTGAGACTATATTCCTAACAAGCTCCAAAGATGCTGGTTTAGAGACCACACTTTGTTGTTGTTATTTTTCTTTTTAGACTGAGTCTCACTCTGTTGCCCAGGCCAGAGTGCAGTGGTGCAACCTCAGCTTGCTGCAACCTCAGCCTCCCGAGTAGCTGGGACTACAAGCACGCGCCACCACGCCCGGCTAATTTTTGTGTTTTTAGTAGAAACGAGGTTTTGCCATGTTGGCCAGGCTGGTCTCGAACTCCTGACCTCAGGTGATCCACCCGCCTTGGCCTCCCCAAGTGCCAGGATTACAGGTGTTTGAGTCACGTCGCCTGGCCAGGGACCACATGTTGAATAGAGAGGGGTTAAGCAGAAGGGATGGCCAGAGAGCAGCATATTAACCTTGGTTTCTGGCCTCCTAGCCTGATGTAGTAAGACTGGGATATTCCCCTCCCTACAAATGTCTGTGTCTCTGGAAATGACTCAGGGATTCTGTCCAAGACTGCAAGCCCTGAGAAGCTGTGTTTGACTCATCTCTGTGCCCCTAAGCCTGAGGTAGGGACTCAGCCCATTTGCTGGCTCATGACTAAGAAAACTCATAGAGCAGAAATAAAAGGGCCCACCTGGTTTGGTCTTAGCTCTGCAATGTCTCCAACCACTAGACTCTCCATCAGCTTCACCCGGTCACTACCAAGTATCTTGGTCTGGGGAAGAGATTGAAAGCCTCAGGCCATTGCAACAGCTACAATCCAAAAGGCTACTAAGCAAGGATGCATCCTCCCTGCCATCCACAGTGCAGTCCAGCCCACCCAAAGTGACTAACCAGTCTTTTGGTTCTACACGTGGCAAAGGACCACCTTCTGATTTCCTGACCTCCCCCAGTCACTCTGTGTGGGGGGACTGCCAGGGAACTGGACAGGACCTAGCACCTTCCTGAAATAACCCCTTTTCAAACCAACATCCAGCCCAATACATGAGAGTGGGTGTCAGCCCTGGAAAACCCGGGACATTAAGGCACACCATTTAATGGGGGCAAGCTAGAAGGATGAGATGATGAGACCCTCTGAGCTCATTTCCTTGGGGCCATTGACCTATCCATGACACCCCCATGACCTCTAGCTCTTCTGAGAAGGCTGTCCTTGGAATCCAGTTCACAGCAAACAAAGCCAAGGAGTGGACCACTGTAAACAGGGAGGAAGGCCTGATCAGATGGCCAGTGTGCTCCCCTGGCTCACCTGCAGCATATGAGACACGTCAAAGAGCGAGCAGTGCTGGCGTGTGTGCAGGTGCGAGTCAGTGTGACTGTCCCGGTACTGCACTGGCAGACTCCAACCCGCAAACGCCACCATTTTCCCGCCGTGGGCCAGGTGGAAGTCATAGAGCGGTGTCCTGCGGAGCACCTCCTGTGGGCGGCTGGGCTTAGTGCCACCAGGGCCCTAGCCCCCAGCCGCTTCCCTCCCCCACCCTCCAAGATCAGCACCCTCTATCCCACCTGTGCGCAACTAAGTGGACGACACAAGGCCGGGGGGAATGCCTGCAGGCGAAAGCCCAGACGGGCCACCACACTTACAGCCCTCTGCGTCGTCGCCTGCAACGAGTGCAGACGGCGCACAGAGGCCACCACACTGCCAGGCACGCCGGGAGATGTAGTCCAGGCCTCTGCTCGGACAGGTCTCTCTCCGGAGCAAAGGATCTGAAGGGGGCGTGGGCAGCCCCAAGGGCAGGCTGGGATTTAGAGCAGAGAATGCAGGAACCCGCAACCACAGGGAAGAAGCCTCCAGCTCTTTCGGCTGACTCTTCAGGGCAGCTCGGGCAATCCAGAGCTGATTGGGCTGCCCAGAACAAAGCTAGGGGCTAGACCGCCCCCTGCAGAACCGCCCTGTCTCCAGAGGGTCAAAGTTCTGGAAAGGGCTGAAAGGTCTGAATCATACCTTTAGGACCTCAAGAGAGTAAGGTCAAGTGGGGGTGGGGAAGGTGGGCCAGCCTGGCAGGTAGGCAGCACCACAGTAGTCTGTCCTCATGTGGACCCCTAGTTCCACAGCTCTCCCACCAGGCAGACACAGGCAGCCAGCAGTCATGCATTCCACAAGTATTTATTGATCTTACTGCATACCAGGCCCTCAGATGGGGACACAGCCACGAATGAAGCATGGTCCCTGCTACCACAAGGTCCTCTTCACTTACACACACACTGAGGACTACTGCTTCGTCACGCTTTCCGAAGCAGCTGAGTGGGGCTATGTAAGTGACCTTGCAGATGAAGTCGCCACCTGCAAGAACTCACAGGTGAGAACAGAGGGTGGCCACCAAAAGGTCACTGAACTCCCCCGAGAAAACTGTTGAGCCACACACATGTCCAACTTTCCAGGTCCAAGACATACTGCAGTACTGCTTTGTAATAGCCACCAGGTGCAAAGCCAGGAAGAACCAGAGGGAAACAGGTTTTTCTCACATGAGGGAAGAGCAGCCTGCATCACTTAATGGTTGGACTGAGTTAATGCAGGACTTAGGCCTCTTAAAAGGCAACAATGAGAACCCTTACTTGGACCCACTCCCCACCACGGTTGATCTCTCATTATGCTGAGCATATCTCTTGGAAAGGGGCAGGGCGGGCGCGGTGGCTCATGCCTGTAATCCCAGCACTTTGGAAGGCCAAGGCAGGCAGATCACCTGAGGTCAGGTGTTTGAGACCAGCCTGACCAACATGGAGAAACCCCATCTCTACTACAAATACAAAATTAGCCAGGCATGGTGATGCATGACTGTAATCCCAGCTACTCGGGAGACTGAGGCAGGAGAATTGCTTGAACCTGGGAGGCGGAGGTTGCAGTTAGCCAAGATTGCACTATTGCACTCCAGCCTGGGCAACAAGAGCAAAACTCAACCTCAAAAAAAACAACAAAAAAGGAGAGGGGCAACTGGGAGAAAGGATAGAGATGTGCTTTGGGCTATGTCAGATGGCAGAAGGGTCCCAGTTCTTTTTTTTTTGTTTGTTTGTTTAAGATGGAGTTTCGCTCTTCTTGCCCAGGCTGGAGTGCAATGGCATGATCTCAGGTCCGCAACCTCCACTTCCCGGGTTCAAGAGATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGATTACAGGTGCCTACCACCACGCCCAGCTAATTTTTTGTATTTTTAGTAGAGACGGGGTTTCTCCAGGTTGGTCAGGCTGGTCTTGAACTCCTGACCTCAGGTGATCCGCCTGCCTGGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACTGCACCCTGCCTAGAAGGGTCCCAGTTCTTATGCTCAGGCCCTGGTTTTGCTAGAGACACGTGCCCAGGCCCTATGGGCACACCCACTTGAACATATATTCAGGAGCCAGCTCAGAAACCAAGAGACTCAGGCTGCCCAAATCTTCAGGTTTCCTTCCTAGGCAGGCAGCAGAAGAGTTCAGACAGGAAATTTCTCTCTGTGGCATAACACAAATGGAAAGAAAACCACTAGGGGACACACAGGAAGAAATAAGGTTTCTGTTTCTTCCTCAAGTGTCCCAAGTGCCATGGCAGCAATGGCCTTCCAGGTCCATACATGGAGCAGGTTTTAGTAGGTCAGCCCAGCCCAACTGCACT
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Task1_train_7021
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The gene NICN1, AMT (nicolin 1, tubulin polyglutamylase complex subunit| aminomethyltransferase) on Chromosome 3 contains a mutation. Based on this information, is the variant pathogenic or benign? Provide the disease if relevant.
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Pathogenic; Glycine encephalopathy
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GCCAGACACAACCCTGGACCCACTTAGTTACCAAAAGGTTATGAACCCTAATGTGAAGGACTCAGGGTGTGCAAGGTACAAGTCTGGGCCCAAGTCCAAGGTCTTTGATCCTCATGCATCAAGTAAGTTTTCATCCCCTCCCTACCTTGGGGTGCTTCCCTGATCTGGTGCAACCTCTGCACCCCTCCCCACTCTGTACTGAGAGTCCCATCTGACACTTAATCTATGACACCTAGGACCTGCTGCTTCACCTACCCAAACCTGGGACGACTTAGCCCATGTGGCAACCCACAGGACAAAAGCTTCAAAGGTCATCTTGATGATCGCAGGCTCTCCTAAGTACTCCATAGCAATGCCCCCAAAAAACTTCCTTAGCCTCCCCACTGGATGGACAAAAAGCCTGAGGTTGAGGGGGTCACATGAATCACCTGGGGATCTTGTTAAAATGAAGGTTCTGATTCAGCAGGTCTGCAGCAGTGCCTGAGACTATATTCCTAACAAGCTCCAAAGATGCTGGTTTAGAGACCACACTTTGTTGTTGTTATTTTTCTTTTTAGACTGAGTCTCACTCTGTTGCCCAGGCCAGAGTGCAGTGGTGCAACCTCAGCTTGCTGCAACCTCAGCCTCCCGAGTAGCTGGGACTACAAGCACGCGCCACCACGCCCGGCTAATTTTTGTGTTTTTAGTAGAAACGAGGTTTTGCCATGTTGGCCAGGCTGGTCTCGAACTCCTGACCTCAGGTGATCCACCCGCCTTGGCCTCCCCAAGTGCCAGGATTACAGGTGTTTGAGTCACGTCGCCTGGCCAGGGACCACATGTTGAATAGAGAGGGGTTAAGCAGAAGGGATGGCCAGAGAGCAGCATATTAACCTTGGTTTCTGGCCTCCTAGCCTGATGTAGTAAGACTGGGATATTCCCCTCCCTACAAATGTCTGTGTCTCTGGAAATGACTCAGGGATTCTGTCCAAGACTGCAAGCCCTGAGAAGCTGTGTTTGACTCATCTCTGTGCCCCTAAGCCTGAGGTAGGGACTCAGCCCATTTGCTGGCTCATGACTAAGAAAACTCATAGAGCAGAAATAAAAGGGCCCACCTGGTTTGGTCTTAGCTCTGCAATGTCTCCAACCACTAGACTCTCCATCAGCTTCACCCGGTCACTACCAAGTATCTTGGTCTGGGGAAGAGATTGAAAGCCTCAGGCCATTGCAACAGCTACAATCCAAAAGGCTACTAAGCAAGGATGCATCCTCCCTGCCATCCACAGTGCAGTCCAGCCCACCCAAAGTGACTAACCAGTCTTTTGGTTCTACACGTGGCAAAGGACCACCTTCTGATTTCCTGACCTCCCCCAGTCACTCTGTGTGGGGGGACTGCCAGGGAACTGGACAGGACCTAGCACCTTCCTGAAATAACCCCTTTTCAAACCAACATCCAGCCCAATACATGAGAGTGGGTGTCAGCCCTGGAAAACCCGGGACATTAAGGCACACCATTTAATGGGGGCAAGCTAGAAGGATGAGATGATGAGACCCTCTGAGCTCATTTCCTTGGGGCCATTGACCTATCCATGACACCCCCATGACCTCTAGCTCTTCTGAGAAGGCTGTCCTTGGAATCCAGTTCACAGCAAACAAAGCCAAGGAGTGGACCACTGTAAACAGGGAGGAAGGCCTGATCAGATGGCCAGTGTGCTCCCCTGGCTCACCTGCAGCATATGAGACACGTCAAAGAGCGAGCAGTGCTGGCGTGTGTGCAGGTGCGAGTCAGTGTGACTGTCCCGGTACTGCACTGGCAGACTCCAACCCGCAAACGCCACCATTTTCCCGCCGTGGGCCAGGTGGAAGTCATAGAGCGGTGTCCTGCGGAGCACCTCCTGTGGGCGGCTGGGCTTAGTGCCACCAGGGCCCTAGCCCCCAGCCGCTTCCCTCCCCCACCCTCCAAGATCAGCACCCTCTATCCCACCTGTGCGCAACTAAGTGGACGACACAAGGCCGGGGGGAATGCCTGCAGGCGAAAGCCCAGACGGGCCACCACACTTACAGCCCTCTGCATCGTCGCCTGCAACGAGTGCAGACGGCGCACAGAGGCCACCACACTGCCAGGCACGCCGGGAGATGTAGTCCAGGCCTCTGCTCGGACAGGTCTCTCTCCGGAGCAAAGGATCTGAAGGGGGCGTGGGCAGCCCCAAGGGCAGGCTGGGATTTAGAGCAGAGAATGCAGGAACCCGCAACCACAGGGAAGAAGCCTCCAGCTCTTTCGGCTGACTCTTCAGGGCAGCTCGGGCAATCCAGAGCTGATTGGGCTGCCCAGAACAAAGCTAGGGGCTAGACCGCCCCCTGCAGAACCGCCCTGTCTCCAGAGGGTCAAAGTTCTGGAAAGGGCTGAAAGGTCTGAATCATACCTTTAGGACCTCAAGAGAGTAAGGTCAAGTGGGGGTGGGGAAGGTGGGCCAGCCTGGCAGGTAGGCAGCACCACAGTAGTCTGTCCTCATGTGGACCCCTAGTTCCACAGCTCTCCCACCAGGCAGACACAGGCAGCCAGCAGTCATGCATTCCACAAGTATTTATTGATCTTACTGCATACCAGGCCCTCAGATGGGGACACAGCCACGAATGAAGCATGGTCCCTGCTACCACAAGGTCCTCTTCACTTACACACACACTGAGGACTACTGCTTCGTCACGCTTTCCGAAGCAGCTGAGTGGGGCTATGTAAGTGACCTTGCAGATGAAGTCGCCACCTGCAAGAACTCACAGGTGAGAACAGAGGGTGGCCACCAAAAGGTCACTGAACTCCCCCGAGAAAACTGTTGAGCCACACACATGTCCAACTTTCCAGGTCCAAGACATACTGCAGTACTGCTTTGTAATAGCCACCAGGTGCAAAGCCAGGAAGAACCAGAGGGAAACAGGTTTTTCTCACATGAGGGAAGAGCAGCCTGCATCACTTAATGGTTGGACTGAGTTAATGCAGGACTTAGGCCTCTTAAAAGGCAACAATGAGAACCCTTACTTGGACCCACTCCCCACCACGGTTGATCTCTCATTATGCTGAGCATATCTCTTGGAAAGGGGCAGGGCGGGCGCGGTGGCTCATGCCTGTAATCCCAGCACTTTGGAAGGCCAAGGCAGGCAGATCACCTGAGGTCAGGTGTTTGAGACCAGCCTGACCAACATGGAGAAACCCCATCTCTACTACAAATACAAAATTAGCCAGGCATGGTGATGCATGACTGTAATCCCAGCTACTCGGGAGACTGAGGCAGGAGAATTGCTTGAACCTGGGAGGCGGAGGTTGCAGTTAGCCAAGATTGCACTATTGCACTCCAGCCTGGGCAACAAGAGCAAAACTCAACCTCAAAAAAAACAACAAAAAAGGAGAGGGGCAACTGGGAGAAAGGATAGAGATGTGCTTTGGGCTATGTCAGATGGCAGAAGGGTCCCAGTTCTTTTTTTTTTGTTTGTTTGTTTAAGATGGAGTTTCGCTCTTCTTGCCCAGGCTGGAGTGCAATGGCATGATCTCAGGTCCGCAACCTCCACTTCCCGGGTTCAAGAGATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGATTACAGGTGCCTACCACCACGCCCAGCTAATTTTTTGTATTTTTAGTAGAGACGGGGTTTCTCCAGGTTGGTCAGGCTGGTCTTGAACTCCTGACCTCAGGTGATCCGCCTGCCTGGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACTGCACCCTGCCTAGAAGGGTCCCAGTTCTTATGCTCAGGCCCTGGTTTTGCTAGAGACACGTGCCCAGGCCCTATGGGCACACCCACTTGAACATATATTCAGGAGCCAGCTCAGAAACCAAGAGACTCAGGCTGCCCAAATCTTCAGGTTTCCTTCCTAGGCAGGCAGCAGAAGAGTTCAGACAGGAAATTTCTCTCTGTGGCATAACACAAATGGAAAGAAAACCACTAGGGGACACACAGGAAGAAATAAGGTTTCTGTTTCTTCCTCAAGTGTCCCAAGTGCCATGGCAGCAATGGCCTTCCAGGTCCATACATGGAGCAGGTTTTAGTAGGTCAGCCCAGCCCAACTGCACT
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GCCAGACACAACCCTGGACCCACTTAGTTACCAAAAGGTTATGAACCCTAATGTGAAGGACTCAGGGTGTGCAAGGTACAAGTCTGGGCCCAAGTCCAAGGTCTTTGATCCTCATGCATCAAGTAAGTTTTCATCCCCTCCCTACCTTGGGGTGCTTCCCTGATCTGGTGCAACCTCTGCACCCCTCCCCACTCTGTACTGAGAGTCCCATCTGACACTTAATCTATGACACCTAGGACCTGCTGCTTCACCTACCCAAACCTGGGACGACTTAGCCCATGTGGCAACCCACAGGACAAAAGCTTCAAAGGTCATCTTGATGATCGCAGGCTCTCCTAAGTACTCCATAGCAATGCCCCCAAAAAACTTCCTTAGCCTCCCCACTGGATGGACAAAAAGCCTGAGGTTGAGGGGGTCACATGAATCACCTGGGGATCTTGTTAAAATGAAGGTTCTGATTCAGCAGGTCTGCAGCAGTGCCTGAGACTATATTCCTAACAAGCTCCAAAGATGCTGGTTTAGAGACCACACTTTGTTGTTGTTATTTTTCTTTTTAGACTGAGTCTCACTCTGTTGCCCAGGCCAGAGTGCAGTGGTGCAACCTCAGCTTGCTGCAACCTCAGCCTCCCGAGTAGCTGGGACTACAAGCACGCGCCACCACGCCCGGCTAATTTTTGTGTTTTTAGTAGAAACGAGGTTTTGCCATGTTGGCCAGGCTGGTCTCGAACTCCTGACCTCAGGTGATCCACCCGCCTTGGCCTCCCCAAGTGCCAGGATTACAGGTGTTTGAGTCACGTCGCCTGGCCAGGGACCACATGTTGAATAGAGAGGGGTTAAGCAGAAGGGATGGCCAGAGAGCAGCATATTAACCTTGGTTTCTGGCCTCCTAGCCTGATGTAGTAAGACTGGGATATTCCCCTCCCTACAAATGTCTGTGTCTCTGGAAATGACTCAGGGATTCTGTCCAAGACTGCAAGCCCTGAGAAGCTGTGTTTGACTCATCTCTGTGCCCCTAAGCCTGAGGTAGGGACTCAGCCCATTTGCTGGCTCATGACTAAGAAAACTCATAGAGCAGAAATAAAAGGGCCCACCTGGTTTGGTCTTAGCTCTGCAATGTCTCCAACCACTAGACTCTCCATCAGCTTCACCCGGTCACTACCAAGTATCTTGGTCTGGGGAAGAGATTGAAAGCCTCAGGCCATTGCAACAGCTACAATCCAAAAGGCTACTAAGCAAGGATGCATCCTCCCTGCCATCCACAGTGCAGTCCAGCCCACCCAAAGTGACTAACCAGTCTTTTGGTTCTACACGTGGCAAAGGACCACCTTCTGATTTCCTGACCTCCCCCAGTCACTCTGTGTGGGGGGACTGCCAGGGAACTGGACAGGACCTAGCACCTTCCTGAAATAACCCCTTTTCAAACCAACATCCAGCCCAATACATGAGAGTGGGTGTCAGCCCTGGAAAACCCGGGACATTAAGGCACACCATTTAATGGGGGCAAGCTAGAAGGATGAGATGATGAGACCCTCTGAGCTCATTTCCTTGGGGCCATTGACCTATCCATGACACCCCCATGACCTCTAGCTCTTCTGAGAAGGCTGTCCTTGGAATCCAGTTCACAGCAAACAAAGCCAAGGAGTGGACCACTGTAAACAGGGAGGAAGGCCTGATCAGATGGCCAGTGTGCTCCCCTGGCTCACCTGCAGCATATGAGACACGTCAAAGAGCGAGCAGTGCTGGCGTGTGTGCAGGTGCGAGTCAGTGTGACTGTCCCGGTACTGCACTGGCAGACTCCAACCCGCAAACGCCACCATTTTCCCGCCGTGGGCCAGGTGGAAGTCATAGAGCGGTGTCCTGCGGAGCACCTCCTGTGGGCGGCTGGGCTTAGTGCCACCAGGGCCCTAGCCCCCAGCCGCTTCCCTCCCCCACCCTCCAAGATCAGCACCCTCTATCCCACCTGTGCGCAACTAAGTGGACGACACAAGGCCGGGGGGAATGCCTGCAGGCGAAAGCCCAGACGGGCCACCACACTTACAGCCCTCTGCTTCGTCGCCTGCAACGAGTGCAGACGGCGCACAGAGGCCACCACACTGCCAGGCACGCCGGGAGATGTAGTCCAGGCCTCTGCTCGGACAGGTCTCTCTCCGGAGCAAAGGATCTGAAGGGGGCGTGGGCAGCCCCAAGGGCAGGCTGGGATTTAGAGCAGAGAATGCAGGAACCCGCAACCACAGGGAAGAAGCCTCCAGCTCTTTCGGCTGACTCTTCAGGGCAGCTCGGGCAATCCAGAGCTGATTGGGCTGCCCAGAACAAAGCTAGGGGCTAGACCGCCCCCTGCAGAACCGCCCTGTCTCCAGAGGGTCAAAGTTCTGGAAAGGGCTGAAAGGTCTGAATCATACCTTTAGGACCTCAAGAGAGTAAGGTCAAGTGGGGGTGGGGAAGGTGGGCCAGCCTGGCAGGTAGGCAGCACCACAGTAGTCTGTCCTCATGTGGACCCCTAGTTCCACAGCTCTCCCACCAGGCAGACACAGGCAGCCAGCAGTCATGCATTCCACAAGTATTTATTGATCTTACTGCATACCAGGCCCTCAGATGGGGACACAGCCACGAATGAAGCATGGTCCCTGCTACCACAAGGTCCTCTTCACTTACACACACACTGAGGACTACTGCTTCGTCACGCTTTCCGAAGCAGCTGAGTGGGGCTATGTAAGTGACCTTGCAGATGAAGTCGCCACCTGCAAGAACTCACAGGTGAGAACAGAGGGTGGCCACCAAAAGGTCACTGAACTCCCCCGAGAAAACTGTTGAGCCACACACATGTCCAACTTTCCAGGTCCAAGACATACTGCAGTACTGCTTTGTAATAGCCACCAGGTGCAAAGCCAGGAAGAACCAGAGGGAAACAGGTTTTTCTCACATGAGGGAAGAGCAGCCTGCATCACTTAATGGTTGGACTGAGTTAATGCAGGACTTAGGCCTCTTAAAAGGCAACAATGAGAACCCTTACTTGGACCCACTCCCCACCACGGTTGATCTCTCATTATGCTGAGCATATCTCTTGGAAAGGGGCAGGGCGGGCGCGGTGGCTCATGCCTGTAATCCCAGCACTTTGGAAGGCCAAGGCAGGCAGATCACCTGAGGTCAGGTGTTTGAGACCAGCCTGACCAACATGGAGAAACCCCATCTCTACTACAAATACAAAATTAGCCAGGCATGGTGATGCATGACTGTAATCCCAGCTACTCGGGAGACTGAGGCAGGAGAATTGCTTGAACCTGGGAGGCGGAGGTTGCAGTTAGCCAAGATTGCACTATTGCACTCCAGCCTGGGCAACAAGAGCAAAACTCAACCTCAAAAAAAACAACAAAAAAGGAGAGGGGCAACTGGGAGAAAGGATAGAGATGTGCTTTGGGCTATGTCAGATGGCAGAAGGGTCCCAGTTCTTTTTTTTTTGTTTGTTTGTTTAAGATGGAGTTTCGCTCTTCTTGCCCAGGCTGGAGTGCAATGGCATGATCTCAGGTCCGCAACCTCCACTTCCCGGGTTCAAGAGATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGATTACAGGTGCCTACCACCACGCCCAGCTAATTTTTTGTATTTTTAGTAGAGACGGGGTTTCTCCAGGTTGGTCAGGCTGGTCTTGAACTCCTGACCTCAGGTGATCCGCCTGCCTGGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACTGCACCCTGCCTAGAAGGGTCCCAGTTCTTATGCTCAGGCCCTGGTTTTGCTAGAGACACGTGCCCAGGCCCTATGGGCACACCCACTTGAACATATATTCAGGAGCCAGCTCAGAAACCAAGAGACTCAGGCTGCCCAAATCTTCAGGTTTCCTTCCTAGGCAGGCAGCAGAAGAGTTCAGACAGGAAATTTCTCTCTGTGGCATAACACAAATGGAAAGAAAACCACTAGGGGACACACAGGAAGAAATAAGGTTTCTGTTTCTTCCTCAAGTGTCCCAAGTGCCATGGCAGCAATGGCCTTCCAGGTCCATACATGGAGCAGGTTTTAGTAGGTCAGCCCAGCCCAACTGCACT
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Task1_train_7022
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Here is a genetic alteration in GMPPB (GDP-mannose pyrophosphorylase B) on Chromosome 3. Based on the data, is it a benign variant or a cause of disease?
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Pathogenic; Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A14
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CCCCCAGGGGCGGGGCCCGGGCTCCTATTGGTTCCCGTTTGAGGAGGCGGGGCGGCTACATCCCTTTGTGCCCAATGGCCCCGCATGACCGCCAGATGGGGAGCAAGGCCAACCCCAAAGTCCCCGTCAGCCTTTGGCTGGCAGCTCTCCGCCGCTCGTTTTTCCTCGGGGAGTAAAAGGGGGAGTCTGGAAGAATGTCTCCAAGCTGCTGTTAGTGTTTATTTGAAGTGACTTTGAAGGACTGATAATATTATGGGGCAGGCAGACTCTCACTATCTTAAGGTGGTTCGCCTGAGCCTTCTTAAAGTGGTACCCCAGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAAGCCAAGGCAGGTGGATCACCTGAGGTCAGGAATTCGAGACCAGCCTGGCCAACCTGGTGAAACCCTGTCTCTACTAAAAATACAACAATTAGCCGGGCGTGGTGGTGGGCGTCTGCAATTCCAGCTACTCGGGAGGCTAAAGCAGGAGAATCACTTGAACCCGGGAGGTGGAGGTTGCAGTGAGCCGAGATCGTGCCATCGCACTCCAGCCTGGGCAACAGAGCGAGACTCGTCTCAAGAAAAAAAAAAAAAAAACAGGCTGTGTGGCACCTTACTAGAATACAGGACTTGGGGTTTGGGAAGCAGGGAGACGGAAAGGATGCAGGGGGGGTGATCATGTACGAGCCATGGCACTCCTCATTGGCAATCCCAAGAGAGACTTTTAGCCAGGCCCCAAGCCTTCTGACTGCCCTTGCACCCTCCCCTACCTAGGAGAGAGCAAGCCACATCAGTGCTCCTGGCAGATCCCTGCTTCCAGCTACGCTCAATATGCTATCTCCTGGGACAGCCAGAGCCCCCAGCACCTGGCACTGCTCTGCCAGCCCCTGACCGGAAGCGCTTCTCCCTGCAGAGCTGTGAGTGGGCTGGTGGGGCAGGTCAGGGAAATCTGGGGCTGGGTCGGGTCAGGAGCCTTAAGAACAGCAAAGTCCTAGGCTGGGAATATTCAAGAGGCATCACATCCTCAGCTACCTCTGACTTGACACTACCTACCACTCCCCAGATGCGGATTATATCAGTGCCGATGAGCTGGCCCAAGTGGAACAGATGCTGGCGCACCTGACCTCTGCATCTGCCCAGGCAGCAGCTGCCTCCCTGGTGAGTGGGAACACGGTGCACAGGTCCATGCCACTTGAATATGTGTGCACTCCTACACAGGCACAACGGACATCCACATAGCCAGGCATCCAACTCCAGCCCACCCTTCACTCTCCTCCCTGCAGCCCACCAGTGAGGAGGACCTCTGCCCCATCTGCTATGCCCACCCCATCTCTGCTGTGTTCCAGCCCTGTGGCCACAAGTCCTGCAAGTAAGTGGGCCCCACAGCTTGGTGGTGGGGAGAGCAGTAGGTACATGCAGGGCAGTCCTCATCCCCTCCCCTGTTGTAGAGCCTGTATCAACCAGCACCTGATGAACAACAAGGACTGCTTCTTCTGCAAAACCACCATCGTGTCTGTAGAGGACTGGGAGAAGGGAGCCAATACGAGTACTACCTCCTCAGCTGCCTAGCCCTCACAGCCTGTGCCATCCTGGAACCTCCACCTTTGAACCCAGAGCCAGGCTGGGCCCTATTTATGAGCTCCCTTTGCCCTTCTCCTGTATCCCACACCACCACATCCAACCTCCTTGCCTGCCTGTATCCTCATTGGTGGGAGCCCAGCCATGGCCCTAATTGTGCCTGAGCTTGACTTTCAGTCAGGGCCACAGTGAGCATTAAATTATTATTCCATACAGCCCTGGCCCTGGCCCTTCTTGAGGGAGTGGGGTTTGTGGGGTGTGCCCAGCAGGGATCCTGCCAGATGATGTCCACATGAGAAGGCAGGTGTCCAACAGCTTCAGCTTCACCCAGTGCCCCCCAGACAAATAATGACAAGTCCAGGGTCTTCTGATGTGTCAGGCCAGCACTCCCCTTGCTGATGGGAAAACCGGGGCTCGGCCAGCCCCACTGCATCCCCTCACATGATGATACGAGGCTCTGGCACTGACTCGCCAATAGACTTGTGGGGCAGCACGCTGGCTCCGTTGAGGTAGAGCTCATCATTAACTATGACGTCCTCACCCAGCACTGTCACGTTCTCCATGCGTACCTCCAGGAGAGGATAGGCCTTGTCAGGGAGGCAGGCACACTCCCCGCCCCTCTCCCCACCCAGCCCAGCCCACAGGCTTACCCACTGACCCACGCGGCAGCGCCAGCCCACAATGCAGGACTCAAGCCAGGAATGGGAACGGATCCGGGCATCCCGCAGCACCGTGCACCGCCGGATACACACACCATCTTCGACCACCACGCCAGGTCCCAGGCTCACATTGGGGCCAATGCTGCAGTTCTGGCCGATGCGGGCACTTGGGTCCTGAGAGCGGTGGGAAAAATACAAGTGGGCCACTTGTCTCCCAAGACTGAGGGGGTTAATGATGGGCTGGGCAAGGGCCTCACCACCAGCACGTTGCCCACAATGCCAGGGCCTGAGCACAGCCGCTCAGGCTGCTTCTGCCTCAGTGACTGCAGGAAGAGGCACATGCCAGTGAGGAAGTCCTTGGGCTGCCCAATGTCCATCCAGAAGCCTGTAGGGAGGGATGCATCAGGGGCCTCAGCCCAGCCACAGACCACCCCCACCCTGTGGCCTCCCTGCCTCACCCTGTAACTCCATGGCATATAGCTGCCCCTCCTTGGCCATAATGGGGAAGACCTCCTTCTCAATGGACGTAGGCTGCAGCTGTGGGAGTGGGCAGCTTGTGAGCAGGGTCATGGCGGTGATGGCCTGCCCCACCCCAGCCCACCAACAGCTGTCTCCTACACACCTGGATGCGCTGCAGCACTGCAGGGCTCAGGATGTACATGCCTGCGTTGATCTTATTGGACACAAACACCTGTGGCTTCTCCACGAACCGGTGAATGCGGCCTGTGTCAGCCTCACACACCACCACACCGTACTTGGAGGGTTCCTCCACCTTGGTCACCTGAATGCAAGGAAGGGGACCTCGGACCTAGTCCAGTGTTCCTAAGCCTTGATACACATGCCGTTCCAGATCTCAAGAGACTCTGCCCCAAGTGCTTAAAGATACATACTGCACAGCTCTGTATCCATAACATCCGAAGGCAGATGAAGGCTAGGGGGCATGGGAGGCTGGGCATGGAGGGTGAAAGTGTCAAGAGAGAGAAGACCTGGCGCCTTACCAGGATGGAGCCCTCCTGGCCATGGTGCCGGTGGAACTGCACCATGGCTTGGAAGGGGAAATCGCAGATCACGTCACTGTTGAGGACGAAGAAAGGGTCTGCAGTCTCAGAGAGTAGGTCACGGGCCAGCGCCAGGGGCCCAGCTGGGGGAAGGGGACAGGTCACCACCTTGCTGGAGGTCTGAGTCCCTGGATTCAGGCTCAGCAGGCCCACTCCAGGCTGGGTCTTACCCTTTTCCTGGCCTTAAACCCTCCCCCAAGGGACCTTTCTGCCTCTACTGACCTGTCCCCAAAGGCTCCTCTTCATGGGACATGGAGATTCGGATTCCCAGCTGGAAGGAAGAGGCCCCCCCAGTCAGGTTCTACCAGGATGGGAAGTTGGGCGGGGACCGAGAATAAGGGCCAAGAGTCTGTGCCTCACCCTCTGCTCCTGTGCCTTCATTTCCTTCTCCAGCACCTGCGACATGTAGCTCACGGCCAGGATCACGTGGTCCACGCCTGCCTGTCAGAACGCAGGCCGACGGGCGGGCTCAGTCAGAAGGTACGGGAGCCCCTGACCCCTAGTCGCTGGCCATCCCTAGTCCCGCCAGATCCGAACGCGACTCTGATCCCGACCCAGGGTCTTACCGCGGCTAGCGCCTCCACTTGGTGCAGCAAGATGGGCTTATTGCAGAAGTCCACCAGTGGCTTCGGGGTGCTCAGCGTCAGCGGCCGTAGCCGCGTCCCATAGCCCCCCACTAAGATCAGTGCCTTCATCGCGCCTGCGGACGTTGAGGGGGTGTCCCGGGCTCTGAGGTGCCTGCAGCCCGCCTGGCCGGTCCCTGCCGCGCACTCCCAACGCC
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CCCCCAGGGGCGGGGCCCGGGCTCCTATTGGTTCCCGTTTGAGGAGGCGGGGCGGCTACATCCCTTTGTGCCCAATGGCCCCGCATGACCGCCAGATGGGGAGCAAGGCCAACCCCAAAGTCCCCGTCAGCCTTTGGCTGGCAGCTCTCCGCCGCTCGTTTTTCCTCGGGGAGTAAAAGGGGGAGTCTGGAAGAATGTCTCCAAGCTGCTGTTAGTGTTTATTTGAAGTGACTTTGAAGGACTGATAATATTATGGGGCAGGCAGACTCTCACTATCTTAAGGTGGTTCGCCTGAGCCTTCTTAAAGTGGTACCCCAGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAAGCCAAGGCAGGTGGATCACCTGAGGTCAGGAATTCGAGACCAGCCTGGCCAACCTGGTGAAACCCTGTCTCTACTAAAAATACAACAATTAGCCGGGCGTGGTGGTGGGCGTCTGCAATTCCAGCTACTCGGGAGGCTAAAGCAGGAGAATCACTTGAACCCGGGAGGTGGAGGTTGCAGTGAGCCGAGATCGTGCCATCGCACTCCAGCCTGGGCAACAGAGCGAGACTCGTCTCAAGAAAAAAAAAAAAAAAACAGGCTGTGTGGCACCTTACTAGAATACAGGACTTGGGGTTTGGGAAGCAGGGAGACGGAAAGGATGCAGGGGGGGTGATCATGTACGAGCCATGGCACTCCTCATTGGCAATCCCAAGAGAGACTTTTAGCCAGGCCCCAAGCCTTCTGACTGCCCTTGCACCCTCCCCTACCTAGGAGAGAGCAAGCCACATCAGTGCTCCTGGCAGATCCCTGCTTCCAGCTACGCTCAATATGCTATCTCCTGGGACAGCCAGAGCCCCCAGCACCTGGCACTGCTCTGCCAGCCCCTGACCGGAAGCGCTTCTCCCTGCAGAGCTGTGAGTGGGCTGGTGGGGCAGGTCAGGGAAATCTGGGGCTGGGTCGGGTCAGGAGCCTTAAGAACAGCAAAGTCCTAGGCTGGGAATATTCAAGAGGCATCACATCCTCAGCTACCTCTGACTTGACACTACCTACCACTCCCCAGATGCGGATTATATCAGTGCCGATGAGCTGGCCCAAGTGGAACAGATGCTGGCGCACCTGACCTCTGCATCTGCCCAGGCAGCAGCTGCCTCCCTGGTGAGTGGGAACACGGTGCACAGGTCCATGCCACTTGAATATGTGTGCACTCCTACACAGGCACAACGGACATCCACATAGCCAGGCATCCAACTCCAGCCCACCCTTCACTCTCCTCCCTGCAGCCCACCAGTGAGGAGGACCTCTGCCCCATCTGCTATGCCCACCCCATCTCTGCTGTGTTCCAGCCCTGTGGCCACAAGTCCTGCAAGTAAGTGGGCCCCACAGCTTGGTGGTGGGGAGAGCAGTAGGTACATGCAGGGCAGTCCTCATCCCCTCCCCTGTTGTAGAGCCTGTATCAACCAGCACCTGATGAACAACAAGGACTGCTTCTTCTGCAAAACCACCATCGTGTCTGTAGAGGACTGGGAGAAGGGAGCCAATACGAGTACTACCTCCTCAGCTGCCTAGCCCTCACAGCCTGTGCCATCCTGGAACCTCCACCTTTGAACCCAGAGCCAGGCTGGGCCCTATTTATGAGCTCCCTTTGCCCTTCTCCTGTATCCCACACCACCACATCCAACCTCCTTGCCTGCCTGTATCCTCATTGGTGGGAGCCCAGCCATGGCCCTAATTGTGCCTGAGCTTGACTTTCAGTCAGGGCCACAGTGAGCATTAAATTATTATTCCATACAGCCCTGGCCCTGGCCCTTCTTGAGGGAGTGGGGTTTGTGGGGTGTGCCCAGCAGGGATCCTGCCAGATGATGTCCACATGAGAAGGCAGGTGTCCAACAGCTTCAGCTTCACCCAGTGCCCCCCAGACAAATAATGACAAGTCCAGGGTCTTCTGATGTGTCAGGCCAGCACTCCCCTTGCTGATGGGAAAACCGGGGCTCGGCCAGCCCCACTGCATCCCCTCACATGATGATATGAGGCTCTGGCACTGACTCGCCAATAGACTTGTGGGGCAGCACGCTGGCTCCGTTGAGGTAGAGCTCATCATTAACTATGACGTCCTCACCCAGCACTGTCACGTTCTCCATGCGTACCTCCAGGAGAGGATAGGCCTTGTCAGGGAGGCAGGCACACTCCCCGCCCCTCTCCCCACCCAGCCCAGCCCACAGGCTTACCCACTGACCCACGCGGCAGCGCCAGCCCACAATGCAGGACTCAAGCCAGGAATGGGAACGGATCCGGGCATCCCGCAGCACCGTGCACCGCCGGATACACACACCATCTTCGACCACCACGCCAGGTCCCAGGCTCACATTGGGGCCAATGCTGCAGTTCTGGCCGATGCGGGCACTTGGGTCCTGAGAGCGGTGGGAAAAATACAAGTGGGCCACTTGTCTCCCAAGACTGAGGGGGTTAATGATGGGCTGGGCAAGGGCCTCACCACCAGCACGTTGCCCACAATGCCAGGGCCTGAGCACAGCCGCTCAGGCTGCTTCTGCCTCAGTGACTGCAGGAAGAGGCACATGCCAGTGAGGAAGTCCTTGGGCTGCCCAATGTCCATCCAGAAGCCTGTAGGGAGGGATGCATCAGGGGCCTCAGCCCAGCCACAGACCACCCCCACCCTGTGGCCTCCCTGCCTCACCCTGTAACTCCATGGCATATAGCTGCCCCTCCTTGGCCATAATGGGGAAGACCTCCTTCTCAATGGACGTAGGCTGCAGCTGTGGGAGTGGGCAGCTTGTGAGCAGGGTCATGGCGGTGATGGCCTGCCCCACCCCAGCCCACCAACAGCTGTCTCCTACACACCTGGATGCGCTGCAGCACTGCAGGGCTCAGGATGTACATGCCTGCGTTGATCTTATTGGACACAAACACCTGTGGCTTCTCCACGAACCGGTGAATGCGGCCTGTGTCAGCCTCACACACCACCACACCGTACTTGGAGGGTTCCTCCACCTTGGTCACCTGAATGCAAGGAAGGGGACCTCGGACCTAGTCCAGTGTTCCTAAGCCTTGATACACATGCCGTTCCAGATCTCAAGAGACTCTGCCCCAAGTGCTTAAAGATACATACTGCACAGCTCTGTATCCATAACATCCGAAGGCAGATGAAGGCTAGGGGGCATGGGAGGCTGGGCATGGAGGGTGAAAGTGTCAAGAGAGAGAAGACCTGGCGCCTTACCAGGATGGAGCCCTCCTGGCCATGGTGCCGGTGGAACTGCACCATGGCTTGGAAGGGGAAATCGCAGATCACGTCACTGTTGAGGACGAAGAAAGGGTCTGCAGTCTCAGAGAGTAGGTCACGGGCCAGCGCCAGGGGCCCAGCTGGGGGAAGGGGACAGGTCACCACCTTGCTGGAGGTCTGAGTCCCTGGATTCAGGCTCAGCAGGCCCACTCCAGGCTGGGTCTTACCCTTTTCCTGGCCTTAAACCCTCCCCCAAGGGACCTTTCTGCCTCTACTGACCTGTCCCCAAAGGCTCCTCTTCATGGGACATGGAGATTCGGATTCCCAGCTGGAAGGAAGAGGCCCCCCCAGTCAGGTTCTACCAGGATGGGAAGTTGGGCGGGGACCGAGAATAAGGGCCAAGAGTCTGTGCCTCACCCTCTGCTCCTGTGCCTTCATTTCCTTCTCCAGCACCTGCGACATGTAGCTCACGGCCAGGATCACGTGGTCCACGCCTGCCTGTCAGAACGCAGGCCGACGGGCGGGCTCAGTCAGAAGGTACGGGAGCCCCTGACCCCTAGTCGCTGGCCATCCCTAGTCCCGCCAGATCCGAACGCGACTCTGATCCCGACCCAGGGTCTTACCGCGGCTAGCGCCTCCACTTGGTGCAGCAAGATGGGCTTATTGCAGAAGTCCACCAGTGGCTTCGGGGTGCTCAGCGTCAGCGGCCGTAGCCGCGTCCCATAGCCCCCCACTAAGATCAGTGCCTTCATCGCGCCTGCGGACGTTGAGGGGGTGTCCCGGGCTCTGAGGTGCCTGCAGCCCGCCTGGCCGGTCCCTGCCGCGCACTCCCAACGCC
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Task1_train_7023
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This genomic variant is located on Chromosome 3, within the GMPPB (GDP-mannose pyrophosphorylase B) gene. Can you determine its pathogenicity and name any linked disease?
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Pathogenic; Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B14
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CCCCCAGGGGCGGGGCCCGGGCTCCTATTGGTTCCCGTTTGAGGAGGCGGGGCGGCTACATCCCTTTGTGCCCAATGGCCCCGCATGACCGCCAGATGGGGAGCAAGGCCAACCCCAAAGTCCCCGTCAGCCTTTGGCTGGCAGCTCTCCGCCGCTCGTTTTTCCTCGGGGAGTAAAAGGGGGAGTCTGGAAGAATGTCTCCAAGCTGCTGTTAGTGTTTATTTGAAGTGACTTTGAAGGACTGATAATATTATGGGGCAGGCAGACTCTCACTATCTTAAGGTGGTTCGCCTGAGCCTTCTTAAAGTGGTACCCCAGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAAGCCAAGGCAGGTGGATCACCTGAGGTCAGGAATTCGAGACCAGCCTGGCCAACCTGGTGAAACCCTGTCTCTACTAAAAATACAACAATTAGCCGGGCGTGGTGGTGGGCGTCTGCAATTCCAGCTACTCGGGAGGCTAAAGCAGGAGAATCACTTGAACCCGGGAGGTGGAGGTTGCAGTGAGCCGAGATCGTGCCATCGCACTCCAGCCTGGGCAACAGAGCGAGACTCGTCTCAAGAAAAAAAAAAAAAAAACAGGCTGTGTGGCACCTTACTAGAATACAGGACTTGGGGTTTGGGAAGCAGGGAGACGGAAAGGATGCAGGGGGGGTGATCATGTACGAGCCATGGCACTCCTCATTGGCAATCCCAAGAGAGACTTTTAGCCAGGCCCCAAGCCTTCTGACTGCCCTTGCACCCTCCCCTACCTAGGAGAGAGCAAGCCACATCAGTGCTCCTGGCAGATCCCTGCTTCCAGCTACGCTCAATATGCTATCTCCTGGGACAGCCAGAGCCCCCAGCACCTGGCACTGCTCTGCCAGCCCCTGACCGGAAGCGCTTCTCCCTGCAGAGCTGTGAGTGGGCTGGTGGGGCAGGTCAGGGAAATCTGGGGCTGGGTCGGGTCAGGAGCCTTAAGAACAGCAAAGTCCTAGGCTGGGAATATTCAAGAGGCATCACATCCTCAGCTACCTCTGACTTGACACTACCTACCACTCCCCAGATGCGGATTATATCAGTGCCGATGAGCTGGCCCAAGTGGAACAGATGCTGGCGCACCTGACCTCTGCATCTGCCCAGGCAGCAGCTGCCTCCCTGGTGAGTGGGAACACGGTGCACAGGTCCATGCCACTTGAATATGTGTGCACTCCTACACAGGCACAACGGACATCCACATAGCCAGGCATCCAACTCCAGCCCACCCTTCACTCTCCTCCCTGCAGCCCACCAGTGAGGAGGACCTCTGCCCCATCTGCTATGCCCACCCCATCTCTGCTGTGTTCCAGCCCTGTGGCCACAAGTCCTGCAAGTAAGTGGGCCCCACAGCTTGGTGGTGGGGAGAGCAGTAGGTACATGCAGGGCAGTCCTCATCCCCTCCCCTGTTGTAGAGCCTGTATCAACCAGCACCTGATGAACAACAAGGACTGCTTCTTCTGCAAAACCACCATCGTGTCTGTAGAGGACTGGGAGAAGGGAGCCAATACGAGTACTACCTCCTCAGCTGCCTAGCCCTCACAGCCTGTGCCATCCTGGAACCTCCACCTTTGAACCCAGAGCCAGGCTGGGCCCTATTTATGAGCTCCCTTTGCCCTTCTCCTGTATCCCACACCACCACATCCAACCTCCTTGCCTGCCTGTATCCTCATTGGTGGGAGCCCAGCCATGGCCCTAATTGTGCCTGAGCTTGACTTTCAGTCAGGGCCACAGTGAGCATTAAATTATTATTCCATACAGCCCTGGCCCTGGCCCTTCTTGAGGGAGTGGGGTTTGTGGGGTGTGCCCAGCAGGGATCCTGCCAGATGATGTCCACATGAGAAGGCAGGTGTCCAACAGCTTCAGCTTCACCCAGTGCCCCCCAGACAAATAATGACAAGTCCAGGGTCTTCTGATGTGTCAGGCCAGCACTCCCCTTGCTGATGGGAAAACCGGGGCTCGGCCAGCCCCACTGCATCCCCTCACATGATGATACGAGGCTCTGGCACTGACTCGCCAATAGACTTGTGGGGCAGCACGCTGGCTCCGTTGAGGTAGAGCTCATCATTAACTATGACGTCCTCACCCAGCACTGTCACGTTCTCCATGCGTACCTCCAGGAGAGGATAGGCCTTGTCAGGGAGGCAGGCACACTCCCCGCCCCTCTCCCCACCCAGCCCAGCCCACAGGCTTACCCACTGACCCACGCGGCAGCGCCAGCCCACAATGCAGGACTCAAGCCAGGAATGGGAACGGATCCGGGCATCCCGCAGCACCGTGCACCGCCGGATACACACACCATCTTCGACCACCACGCCAGGTCCCAGGCTCACATTGGGGCCAATGCTGCAGTTCTGGCCGATGCGGGCACTTGGGTCCTGAGAGCGGTGGGAAAAATACAAGTGGGCCACTTGTCTCCCAAGACTGAGGGGGTTAATGATGGGCTGGGCAAGGGCCTCACCACCAGCACGTTGCCCACAATGCCAGGGCCTGAGCACAGCCGCTCAGGCTGCTTCTGCCTCAGTGACTGCAGGAAGAGGCACATGCCAGTGAGGAAGTCCTTGGGCTGCCCAATGTCCATCCAGAAGCCTGTAGGGAGGGATGCATCAGGGGCCTCAGCCCAGCCACAGACCACCCCCACCCTGTGGCCTCCCTGCCTCACCCTGTAACTCCATGGCATATAGCTGCCCCTCCTTGGCCATAATGGGGAAGACCTCCTTCTCAATGGACGTAGGCTGCAGCTGTGGGAGTGGGCAGCTTGTGAGCAGGGTCATGGCGGTGATGGCCTGCCCCACCCCAGCCCACCAACAGCTGTCTCCTACACACCTGGATGCGCTGCAGCACTGCAGGGCTCAGGATGTACATGCCTGCGTTGATCTTATTGGACACAAACACCTGTGGCTTCTCCACGAACCGGTGAATGCGGCCTGTGTCAGCCTCACACACCACCACACCGTACTTGGAGGGTTCCTCCACCTTGGTCACCTGAATGCAAGGAAGGGGACCTCGGACCTAGTCCAGTGTTCCTAAGCCTTGATACACATGCCGTTCCAGATCTCAAGAGACTCTGCCCCAAGTGCTTAAAGATACATACTGCACAGCTCTGTATCCATAACATCCGAAGGCAGATGAAGGCTAGGGGGCATGGGAGGCTGGGCATGGAGGGTGAAAGTGTCAAGAGAGAGAAGACCTGGCGCCTTACCAGGATGGAGCCCTCCTGGCCATGGTGCCGGTGGAACTGCACCATGGCTTGGAAGGGGAAATCGCAGATCACGTCACTGTTGAGGACGAAGAAAGGGTCTGCAGTCTCAGAGAGTAGGTCACGGGCCAGCGCCAGGGGCCCAGCTGGGGGAAGGGGACAGGTCACCACCTTGCTGGAGGTCTGAGTCCCTGGATTCAGGCTCAGCAGGCCCACTCCAGGCTGGGTCTTACCCTTTTCCTGGCCTTAAACCCTCCCCCAAGGGACCTTTCTGCCTCTACTGACCTGTCCCCAAAGGCTCCTCTTCATGGGACATGGAGATTCGGATTCCCAGCTGGAAGGAAGAGGCCCCCCCAGTCAGGTTCTACCAGGATGGGAAGTTGGGCGGGGACCGAGAATAAGGGCCAAGAGTCTGTGCCTCACCCTCTGCTCCTGTGCCTTCATTTCCTTCTCCAGCACCTGCGACATGTAGCTCACGGCCAGGATCACGTGGTCCACGCCTGCCTGTCAGAACGCAGGCCGACGGGCGGGCTCAGTCAGAAGGTACGGGAGCCCCTGACCCCTAGTCGCTGGCCATCCCTAGTCCCGCCAGATCCGAACGCGACTCTGATCCCGACCCAGGGTCTTACCGCGGCTAGCGCCTCCACTTGGTGCAGCAAGATGGGCTTATTGCAGAAGTCCACCAGTGGCTTCGGGGTGCTCAGCGTCAGCGGCCGTAGCCGCGTCCCATAGCCCCCCACTAAGATCAGTGCCTTCATCGCGCCTGCGGACGTTGAGGGGGTGTCCCGGGCTCTGAGGTGCCTGCAGCCCGCCTGGCCGGTCCCTGCCGCGCACTCCCAACGCC
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CCCCCAGGGGCGGGGCCCGGGCTCCTATTGGTTCCCGTTTGAGGAGGCGGGGCGGCTACATCCCTTTGTGCCCAATGGCCCCGCATGACCGCCAGATGGGGAGCAAGGCCAACCCCAAAGTCCCCGTCAGCCTTTGGCTGGCAGCTCTCCGCCGCTCGTTTTTCCTCGGGGAGTAAAAGGGGGAGTCTGGAAGAATGTCTCCAAGCTGCTGTTAGTGTTTATTTGAAGTGACTTTGAAGGACTGATAATATTATGGGGCAGGCAGACTCTCACTATCTTAAGGTGGTTCGCCTGAGCCTTCTTAAAGTGGTACCCCAGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAAGCCAAGGCAGGTGGATCACCTGAGGTCAGGAATTCGAGACCAGCCTGGCCAACCTGGTGAAACCCTGTCTCTACTAAAAATACAACAATTAGCCGGGCGTGGTGGTGGGCGTCTGCAATTCCAGCTACTCGGGAGGCTAAAGCAGGAGAATCACTTGAACCCGGGAGGTGGAGGTTGCAGTGAGCCGAGATCGTGCCATCGCACTCCAGCCTGGGCAACAGAGCGAGACTCGTCTCAAGAAAAAAAAAAAAAAAACAGGCTGTGTGGCACCTTACTAGAATACAGGACTTGGGGTTTGGGAAGCAGGGAGACGGAAAGGATGCAGGGGGGGTGATCATGTACGAGCCATGGCACTCCTCATTGGCAATCCCAAGAGAGACTTTTAGCCAGGCCCCAAGCCTTCTGACTGCCCTTGCACCCTCCCCTACCTAGGAGAGAGCAAGCCACATCAGTGCTCCTGGCAGATCCCTGCTTCCAGCTACGCTCAATATGCTATCTCCTGGGACAGCCAGAGCCCCCAGCACCTGGCACTGCTCTGCCAGCCCCTGACCGGAAGCGCTTCTCCCTGCAGAGCTGTGAGTGGGCTGGTGGGGCAGGTCAGGGAAATCTGGGGCTGGGTCGGGTCAGGAGCCTTAAGAACAGCAAAGTCCTAGGCTGGGAATATTCAAGAGGCATCACATCCTCAGCTACCTCTGACTTGACACTACCTACCACTCCCCAGATGCGGATTATATCAGTGCCGATGAGCTGGCCCAAGTGGAACAGATGCTGGCGCACCTGACCTCTGCATCTGCCCAGGCAGCAGCTGCCTCCCTGGTGAGTGGGAACACGGTGCACAGGTCCATGCCACTTGAATATGTGTGCACTCCTACACAGGCACAACGGACATCCACATAGCCAGGCATCCAACTCCAGCCCACCCTTCACTCTCCTCCCTGCAGCCCACCAGTGAGGAGGACCTCTGCCCCATCTGCTATGCCCACCCCATCTCTGCTGTGTTCCAGCCCTGTGGCCACAAGTCCTGCAAGTAAGTGGGCCCCACAGCTTGGTGGTGGGGAGAGCAGTAGGTACATGCAGGGCAGTCCTCATCCCCTCCCCTGTTGTAGAGCCTGTATCAACCAGCACCTGATGAACAACAAGGACTGCTTCTTCTGCAAAACCACCATCGTGTCTGTAGAGGACTGGGAGAAGGGAGCCAATACGAGTACTACCTCCTCAGCTGCCTAGCCCTCACAGCCTGTGCCATCCTGGAACCTCCACCTTTGAACCCAGAGCCAGGCTGGGCCCTATTTATGAGCTCCCTTTGCCCTTCTCCTGTATCCCACACCACCACATCCAACCTCCTTGCCTGCCTGTATCCTCATTGGTGGGAGCCCAGCCATGGCCCTAATTGTGCCTGAGCTTGACTTTCAGTCAGGGCCACAGTGAGCATTAAATTATTATTCCATACAGCCCTGGCCCTGGCCCTTCTTGAGGGAGTGGGGTTTGTGGGGTGTGCCCAGCAGGGATCCTGCCAGATGATGTCCACATGAGAAGGCAGGTGTCCAACAGCTTCAGCTTCACCCAGTGCCCCCCAGACAAATAATGACAAGTCCAGGGTCTTCTGATGTGTCAGGCCAGCACTCCCCTTGCTGATGGGAAAACCGGGGCTCGGCCAGCCCCACTGCATCCCCTCACATGATGATATGAGGCTCTGGCACTGACTCGCCAATAGACTTGTGGGGCAGCACGCTGGCTCCGTTGAGGTAGAGCTCATCATTAACTATGACGTCCTCACCCAGCACTGTCACGTTCTCCATGCGTACCTCCAGGAGAGGATAGGCCTTGTCAGGGAGGCAGGCACACTCCCCGCCCCTCTCCCCACCCAGCCCAGCCCACAGGCTTACCCACTGACCCACGCGGCAGCGCCAGCCCACAATGCAGGACTCAAGCCAGGAATGGGAACGGATCCGGGCATCCCGCAGCACCGTGCACCGCCGGATACACACACCATCTTCGACCACCACGCCAGGTCCCAGGCTCACATTGGGGCCAATGCTGCAGTTCTGGCCGATGCGGGCACTTGGGTCCTGAGAGCGGTGGGAAAAATACAAGTGGGCCACTTGTCTCCCAAGACTGAGGGGGTTAATGATGGGCTGGGCAAGGGCCTCACCACCAGCACGTTGCCCACAATGCCAGGGCCTGAGCACAGCCGCTCAGGCTGCTTCTGCCTCAGTGACTGCAGGAAGAGGCACATGCCAGTGAGGAAGTCCTTGGGCTGCCCAATGTCCATCCAGAAGCCTGTAGGGAGGGATGCATCAGGGGCCTCAGCCCAGCCACAGACCACCCCCACCCTGTGGCCTCCCTGCCTCACCCTGTAACTCCATGGCATATAGCTGCCCCTCCTTGGCCATAATGGGGAAGACCTCCTTCTCAATGGACGTAGGCTGCAGCTGTGGGAGTGGGCAGCTTGTGAGCAGGGTCATGGCGGTGATGGCCTGCCCCACCCCAGCCCACCAACAGCTGTCTCCTACACACCTGGATGCGCTGCAGCACTGCAGGGCTCAGGATGTACATGCCTGCGTTGATCTTATTGGACACAAACACCTGTGGCTTCTCCACGAACCGGTGAATGCGGCCTGTGTCAGCCTCACACACCACCACACCGTACTTGGAGGGTTCCTCCACCTTGGTCACCTGAATGCAAGGAAGGGGACCTCGGACCTAGTCCAGTGTTCCTAAGCCTTGATACACATGCCGTTCCAGATCTCAAGAGACTCTGCCCCAAGTGCTTAAAGATACATACTGCACAGCTCTGTATCCATAACATCCGAAGGCAGATGAAGGCTAGGGGGCATGGGAGGCTGGGCATGGAGGGTGAAAGTGTCAAGAGAGAGAAGACCTGGCGCCTTACCAGGATGGAGCCCTCCTGGCCATGGTGCCGGTGGAACTGCACCATGGCTTGGAAGGGGAAATCGCAGATCACGTCACTGTTGAGGACGAAGAAAGGGTCTGCAGTCTCAGAGAGTAGGTCACGGGCCAGCGCCAGGGGCCCAGCTGGGGGAAGGGGACAGGTCACCACCTTGCTGGAGGTCTGAGTCCCTGGATTCAGGCTCAGCAGGCCCACTCCAGGCTGGGTCTTACCCTTTTCCTGGCCTTAAACCCTCCCCCAAGGGACCTTTCTGCCTCTACTGACCTGTCCCCAAAGGCTCCTCTTCATGGGACATGGAGATTCGGATTCCCAGCTGGAAGGAAGAGGCCCCCCCAGTCAGGTTCTACCAGGATGGGAAGTTGGGCGGGGACCGAGAATAAGGGCCAAGAGTCTGTGCCTCACCCTCTGCTCCTGTGCCTTCATTTCCTTCTCCAGCACCTGCGACATGTAGCTCACGGCCAGGATCACGTGGTCCACGCCTGCCTGTCAGAACGCAGGCCGACGGGCGGGCTCAGTCAGAAGGTACGGGAGCCCCTGACCCCTAGTCGCTGGCCATCCCTAGTCCCGCCAGATCCGAACGCGACTCTGATCCCGACCCAGGGTCTTACCGCGGCTAGCGCCTCCACTTGGTGCAGCAAGATGGGCTTATTGCAGAAGTCCACCAGTGGCTTCGGGGTGCTCAGCGTCAGCGGCCGTAGCCGCGTCCCATAGCCCCCCACTAAGATCAGTGCCTTCATCGCGCCTGCGGACGTTGAGGGGGTGTCCCGGGCTCTGAGGTGCCTGCAGCCCGCCTGGCCGGTCCCTGCCGCGCACTCCCAACGCC
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Task1_train_7024
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The following genetic variant occurs in GMPPB (GDP-mannose pyrophosphorylase B) on Chromosome 3. Classify its clinical effect — pathogenic or benign — and list any associated condition.
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Pathogenic; Autosomal recessive limb-girdle muscular dystrophy type 2T
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CCCCCAGGGGCGGGGCCCGGGCTCCTATTGGTTCCCGTTTGAGGAGGCGGGGCGGCTACATCCCTTTGTGCCCAATGGCCCCGCATGACCGCCAGATGGGGAGCAAGGCCAACCCCAAAGTCCCCGTCAGCCTTTGGCTGGCAGCTCTCCGCCGCTCGTTTTTCCTCGGGGAGTAAAAGGGGGAGTCTGGAAGAATGTCTCCAAGCTGCTGTTAGTGTTTATTTGAAGTGACTTTGAAGGACTGATAATATTATGGGGCAGGCAGACTCTCACTATCTTAAGGTGGTTCGCCTGAGCCTTCTTAAAGTGGTACCCCAGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAAGCCAAGGCAGGTGGATCACCTGAGGTCAGGAATTCGAGACCAGCCTGGCCAACCTGGTGAAACCCTGTCTCTACTAAAAATACAACAATTAGCCGGGCGTGGTGGTGGGCGTCTGCAATTCCAGCTACTCGGGAGGCTAAAGCAGGAGAATCACTTGAACCCGGGAGGTGGAGGTTGCAGTGAGCCGAGATCGTGCCATCGCACTCCAGCCTGGGCAACAGAGCGAGACTCGTCTCAAGAAAAAAAAAAAAAAAACAGGCTGTGTGGCACCTTACTAGAATACAGGACTTGGGGTTTGGGAAGCAGGGAGACGGAAAGGATGCAGGGGGGGTGATCATGTACGAGCCATGGCACTCCTCATTGGCAATCCCAAGAGAGACTTTTAGCCAGGCCCCAAGCCTTCTGACTGCCCTTGCACCCTCCCCTACCTAGGAGAGAGCAAGCCACATCAGTGCTCCTGGCAGATCCCTGCTTCCAGCTACGCTCAATATGCTATCTCCTGGGACAGCCAGAGCCCCCAGCACCTGGCACTGCTCTGCCAGCCCCTGACCGGAAGCGCTTCTCCCTGCAGAGCTGTGAGTGGGCTGGTGGGGCAGGTCAGGGAAATCTGGGGCTGGGTCGGGTCAGGAGCCTTAAGAACAGCAAAGTCCTAGGCTGGGAATATTCAAGAGGCATCACATCCTCAGCTACCTCTGACTTGACACTACCTACCACTCCCCAGATGCGGATTATATCAGTGCCGATGAGCTGGCCCAAGTGGAACAGATGCTGGCGCACCTGACCTCTGCATCTGCCCAGGCAGCAGCTGCCTCCCTGGTGAGTGGGAACACGGTGCACAGGTCCATGCCACTTGAATATGTGTGCACTCCTACACAGGCACAACGGACATCCACATAGCCAGGCATCCAACTCCAGCCCACCCTTCACTCTCCTCCCTGCAGCCCACCAGTGAGGAGGACCTCTGCCCCATCTGCTATGCCCACCCCATCTCTGCTGTGTTCCAGCCCTGTGGCCACAAGTCCTGCAAGTAAGTGGGCCCCACAGCTTGGTGGTGGGGAGAGCAGTAGGTACATGCAGGGCAGTCCTCATCCCCTCCCCTGTTGTAGAGCCTGTATCAACCAGCACCTGATGAACAACAAGGACTGCTTCTTCTGCAAAACCACCATCGTGTCTGTAGAGGACTGGGAGAAGGGAGCCAATACGAGTACTACCTCCTCAGCTGCCTAGCCCTCACAGCCTGTGCCATCCTGGAACCTCCACCTTTGAACCCAGAGCCAGGCTGGGCCCTATTTATGAGCTCCCTTTGCCCTTCTCCTGTATCCCACACCACCACATCCAACCTCCTTGCCTGCCTGTATCCTCATTGGTGGGAGCCCAGCCATGGCCCTAATTGTGCCTGAGCTTGACTTTCAGTCAGGGCCACAGTGAGCATTAAATTATTATTCCATACAGCCCTGGCCCTGGCCCTTCTTGAGGGAGTGGGGTTTGTGGGGTGTGCCCAGCAGGGATCCTGCCAGATGATGTCCACATGAGAAGGCAGGTGTCCAACAGCTTCAGCTTCACCCAGTGCCCCCCAGACAAATAATGACAAGTCCAGGGTCTTCTGATGTGTCAGGCCAGCACTCCCCTTGCTGATGGGAAAACCGGGGCTCGGCCAGCCCCACTGCATCCCCTCACATGATGATACGAGGCTCTGGCACTGACTCGCCAATAGACTTGTGGGGCAGCACGCTGGCTCCGTTGAGGTAGAGCTCATCATTAACTATGACGTCCTCACCCAGCACTGTCACGTTCTCCATGCGTACCTCCAGGAGAGGATAGGCCTTGTCAGGGAGGCAGGCACACTCCCCGCCCCTCTCCCCACCCAGCCCAGCCCACAGGCTTACCCACTGACCCACGCGGCAGCGCCAGCCCACAATGCAGGACTCAAGCCAGGAATGGGAACGGATCCGGGCATCCCGCAGCACCGTGCACCGCCGGATACACACACCATCTTCGACCACCACGCCAGGTCCCAGGCTCACATTGGGGCCAATGCTGCAGTTCTGGCCGATGCGGGCACTTGGGTCCTGAGAGCGGTGGGAAAAATACAAGTGGGCCACTTGTCTCCCAAGACTGAGGGGGTTAATGATGGGCTGGGCAAGGGCCTCACCACCAGCACGTTGCCCACAATGCCAGGGCCTGAGCACAGCCGCTCAGGCTGCTTCTGCCTCAGTGACTGCAGGAAGAGGCACATGCCAGTGAGGAAGTCCTTGGGCTGCCCAATGTCCATCCAGAAGCCTGTAGGGAGGGATGCATCAGGGGCCTCAGCCCAGCCACAGACCACCCCCACCCTGTGGCCTCCCTGCCTCACCCTGTAACTCCATGGCATATAGCTGCCCCTCCTTGGCCATAATGGGGAAGACCTCCTTCTCAATGGACGTAGGCTGCAGCTGTGGGAGTGGGCAGCTTGTGAGCAGGGTCATGGCGGTGATGGCCTGCCCCACCCCAGCCCACCAACAGCTGTCTCCTACACACCTGGATGCGCTGCAGCACTGCAGGGCTCAGGATGTACATGCCTGCGTTGATCTTATTGGACACAAACACCTGTGGCTTCTCCACGAACCGGTGAATGCGGCCTGTGTCAGCCTCACACACCACCACACCGTACTTGGAGGGTTCCTCCACCTTGGTCACCTGAATGCAAGGAAGGGGACCTCGGACCTAGTCCAGTGTTCCTAAGCCTTGATACACATGCCGTTCCAGATCTCAAGAGACTCTGCCCCAAGTGCTTAAAGATACATACTGCACAGCTCTGTATCCATAACATCCGAAGGCAGATGAAGGCTAGGGGGCATGGGAGGCTGGGCATGGAGGGTGAAAGTGTCAAGAGAGAGAAGACCTGGCGCCTTACCAGGATGGAGCCCTCCTGGCCATGGTGCCGGTGGAACTGCACCATGGCTTGGAAGGGGAAATCGCAGATCACGTCACTGTTGAGGACGAAGAAAGGGTCTGCAGTCTCAGAGAGTAGGTCACGGGCCAGCGCCAGGGGCCCAGCTGGGGGAAGGGGACAGGTCACCACCTTGCTGGAGGTCTGAGTCCCTGGATTCAGGCTCAGCAGGCCCACTCCAGGCTGGGTCTTACCCTTTTCCTGGCCTTAAACCCTCCCCCAAGGGACCTTTCTGCCTCTACTGACCTGTCCCCAAAGGCTCCTCTTCATGGGACATGGAGATTCGGATTCCCAGCTGGAAGGAAGAGGCCCCCCCAGTCAGGTTCTACCAGGATGGGAAGTTGGGCGGGGACCGAGAATAAGGGCCAAGAGTCTGTGCCTCACCCTCTGCTCCTGTGCCTTCATTTCCTTCTCCAGCACCTGCGACATGTAGCTCACGGCCAGGATCACGTGGTCCACGCCTGCCTGTCAGAACGCAGGCCGACGGGCGGGCTCAGTCAGAAGGTACGGGAGCCCCTGACCCCTAGTCGCTGGCCATCCCTAGTCCCGCCAGATCCGAACGCGACTCTGATCCCGACCCAGGGTCTTACCGCGGCTAGCGCCTCCACTTGGTGCAGCAAGATGGGCTTATTGCAGAAGTCCACCAGTGGCTTCGGGGTGCTCAGCGTCAGCGGCCGTAGCCGCGTCCCATAGCCCCCCACTAAGATCAGTGCCTTCATCGCGCCTGCGGACGTTGAGGGGGTGTCCCGGGCTCTGAGGTGCCTGCAGCCCGCCTGGCCGGTCCCTGCCGCGCACTCCCAACGCC
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CCCCCAGGGGCGGGGCCCGGGCTCCTATTGGTTCCCGTTTGAGGAGGCGGGGCGGCTACATCCCTTTGTGCCCAATGGCCCCGCATGACCGCCAGATGGGGAGCAAGGCCAACCCCAAAGTCCCCGTCAGCCTTTGGCTGGCAGCTCTCCGCCGCTCGTTTTTCCTCGGGGAGTAAAAGGGGGAGTCTGGAAGAATGTCTCCAAGCTGCTGTTAGTGTTTATTTGAAGTGACTTTGAAGGACTGATAATATTATGGGGCAGGCAGACTCTCACTATCTTAAGGTGGTTCGCCTGAGCCTTCTTAAAGTGGTACCCCAGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAAGCCAAGGCAGGTGGATCACCTGAGGTCAGGAATTCGAGACCAGCCTGGCCAACCTGGTGAAACCCTGTCTCTACTAAAAATACAACAATTAGCCGGGCGTGGTGGTGGGCGTCTGCAATTCCAGCTACTCGGGAGGCTAAAGCAGGAGAATCACTTGAACCCGGGAGGTGGAGGTTGCAGTGAGCCGAGATCGTGCCATCGCACTCCAGCCTGGGCAACAGAGCGAGACTCGTCTCAAGAAAAAAAAAAAAAAAACAGGCTGTGTGGCACCTTACTAGAATACAGGACTTGGGGTTTGGGAAGCAGGGAGACGGAAAGGATGCAGGGGGGGTGATCATGTACGAGCCATGGCACTCCTCATTGGCAATCCCAAGAGAGACTTTTAGCCAGGCCCCAAGCCTTCTGACTGCCCTTGCACCCTCCCCTACCTAGGAGAGAGCAAGCCACATCAGTGCTCCTGGCAGATCCCTGCTTCCAGCTACGCTCAATATGCTATCTCCTGGGACAGCCAGAGCCCCCAGCACCTGGCACTGCTCTGCCAGCCCCTGACCGGAAGCGCTTCTCCCTGCAGAGCTGTGAGTGGGCTGGTGGGGCAGGTCAGGGAAATCTGGGGCTGGGTCGGGTCAGGAGCCTTAAGAACAGCAAAGTCCTAGGCTGGGAATATTCAAGAGGCATCACATCCTCAGCTACCTCTGACTTGACACTACCTACCACTCCCCAGATGCGGATTATATCAGTGCCGATGAGCTGGCCCAAGTGGAACAGATGCTGGCGCACCTGACCTCTGCATCTGCCCAGGCAGCAGCTGCCTCCCTGGTGAGTGGGAACACGGTGCACAGGTCCATGCCACTTGAATATGTGTGCACTCCTACACAGGCACAACGGACATCCACATAGCCAGGCATCCAACTCCAGCCCACCCTTCACTCTCCTCCCTGCAGCCCACCAGTGAGGAGGACCTCTGCCCCATCTGCTATGCCCACCCCATCTCTGCTGTGTTCCAGCCCTGTGGCCACAAGTCCTGCAAGTAAGTGGGCCCCACAGCTTGGTGGTGGGGAGAGCAGTAGGTACATGCAGGGCAGTCCTCATCCCCTCCCCTGTTGTAGAGCCTGTATCAACCAGCACCTGATGAACAACAAGGACTGCTTCTTCTGCAAAACCACCATCGTGTCTGTAGAGGACTGGGAGAAGGGAGCCAATACGAGTACTACCTCCTCAGCTGCCTAGCCCTCACAGCCTGTGCCATCCTGGAACCTCCACCTTTGAACCCAGAGCCAGGCTGGGCCCTATTTATGAGCTCCCTTTGCCCTTCTCCTGTATCCCACACCACCACATCCAACCTCCTTGCCTGCCTGTATCCTCATTGGTGGGAGCCCAGCCATGGCCCTAATTGTGCCTGAGCTTGACTTTCAGTCAGGGCCACAGTGAGCATTAAATTATTATTCCATACAGCCCTGGCCCTGGCCCTTCTTGAGGGAGTGGGGTTTGTGGGGTGTGCCCAGCAGGGATCCTGCCAGATGATGTCCACATGAGAAGGCAGGTGTCCAACAGCTTCAGCTTCACCCAGTGCCCCCCAGACAAATAATGACAAGTCCAGGGTCTTCTGATGTGTCAGGCCAGCACTCCCCTTGCTGATGGGAAAACCGGGGCTCGGCCAGCCCCACTGCATCCCCTCACATGATGATATGAGGCTCTGGCACTGACTCGCCAATAGACTTGTGGGGCAGCACGCTGGCTCCGTTGAGGTAGAGCTCATCATTAACTATGACGTCCTCACCCAGCACTGTCACGTTCTCCATGCGTACCTCCAGGAGAGGATAGGCCTTGTCAGGGAGGCAGGCACACTCCCCGCCCCTCTCCCCACCCAGCCCAGCCCACAGGCTTACCCACTGACCCACGCGGCAGCGCCAGCCCACAATGCAGGACTCAAGCCAGGAATGGGAACGGATCCGGGCATCCCGCAGCACCGTGCACCGCCGGATACACACACCATCTTCGACCACCACGCCAGGTCCCAGGCTCACATTGGGGCCAATGCTGCAGTTCTGGCCGATGCGGGCACTTGGGTCCTGAGAGCGGTGGGAAAAATACAAGTGGGCCACTTGTCTCCCAAGACTGAGGGGGTTAATGATGGGCTGGGCAAGGGCCTCACCACCAGCACGTTGCCCACAATGCCAGGGCCTGAGCACAGCCGCTCAGGCTGCTTCTGCCTCAGTGACTGCAGGAAGAGGCACATGCCAGTGAGGAAGTCCTTGGGCTGCCCAATGTCCATCCAGAAGCCTGTAGGGAGGGATGCATCAGGGGCCTCAGCCCAGCCACAGACCACCCCCACCCTGTGGCCTCCCTGCCTCACCCTGTAACTCCATGGCATATAGCTGCCCCTCCTTGGCCATAATGGGGAAGACCTCCTTCTCAATGGACGTAGGCTGCAGCTGTGGGAGTGGGCAGCTTGTGAGCAGGGTCATGGCGGTGATGGCCTGCCCCACCCCAGCCCACCAACAGCTGTCTCCTACACACCTGGATGCGCTGCAGCACTGCAGGGCTCAGGATGTACATGCCTGCGTTGATCTTATTGGACACAAACACCTGTGGCTTCTCCACGAACCGGTGAATGCGGCCTGTGTCAGCCTCACACACCACCACACCGTACTTGGAGGGTTCCTCCACCTTGGTCACCTGAATGCAAGGAAGGGGACCTCGGACCTAGTCCAGTGTTCCTAAGCCTTGATACACATGCCGTTCCAGATCTCAAGAGACTCTGCCCCAAGTGCTTAAAGATACATACTGCACAGCTCTGTATCCATAACATCCGAAGGCAGATGAAGGCTAGGGGGCATGGGAGGCTGGGCATGGAGGGTGAAAGTGTCAAGAGAGAGAAGACCTGGCGCCTTACCAGGATGGAGCCCTCCTGGCCATGGTGCCGGTGGAACTGCACCATGGCTTGGAAGGGGAAATCGCAGATCACGTCACTGTTGAGGACGAAGAAAGGGTCTGCAGTCTCAGAGAGTAGGTCACGGGCCAGCGCCAGGGGCCCAGCTGGGGGAAGGGGACAGGTCACCACCTTGCTGGAGGTCTGAGTCCCTGGATTCAGGCTCAGCAGGCCCACTCCAGGCTGGGTCTTACCCTTTTCCTGGCCTTAAACCCTCCCCCAAGGGACCTTTCTGCCTCTACTGACCTGTCCCCAAAGGCTCCTCTTCATGGGACATGGAGATTCGGATTCCCAGCTGGAAGGAAGAGGCCCCCCCAGTCAGGTTCTACCAGGATGGGAAGTTGGGCGGGGACCGAGAATAAGGGCCAAGAGTCTGTGCCTCACCCTCTGCTCCTGTGCCTTCATTTCCTTCTCCAGCACCTGCGACATGTAGCTCACGGCCAGGATCACGTGGTCCACGCCTGCCTGTCAGAACGCAGGCCGACGGGCGGGCTCAGTCAGAAGGTACGGGAGCCCCTGACCCCTAGTCGCTGGCCATCCCTAGTCCCGCCAGATCCGAACGCGACTCTGATCCCGACCCAGGGTCTTACCGCGGCTAGCGCCTCCACTTGGTGCAGCAAGATGGGCTTATTGCAGAAGTCCACCAGTGGCTTCGGGGTGCTCAGCGTCAGCGGCCGTAGCCGCGTCCCATAGCCCCCCACTAAGATCAGTGCCTTCATCGCGCCTGCGGACGTTGAGGGGGTGTCCCGGGCTCTGAGGTGCCTGCAGCCCGCCTGGCCGGTCCCTGCCGCGCACTCCCAACGCC
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Task1_train_7025
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This variant lies on Chromosome 3 and affects the gene GMPPB (GDP-mannose pyrophosphorylase B). Based on this context, is the mutation pathogenic or benign? If pathogenic, what disease does it cause?
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Pathogenic; Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A14
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TGAGCCTTCTTAAAGTGGTACCCCAGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAAGCCAAGGCAGGTGGATCACCTGAGGTCAGGAATTCGAGACCAGCCTGGCCAACCTGGTGAAACCCTGTCTCTACTAAAAATACAACAATTAGCCGGGCGTGGTGGTGGGCGTCTGCAATTCCAGCTACTCGGGAGGCTAAAGCAGGAGAATCACTTGAACCCGGGAGGTGGAGGTTGCAGTGAGCCGAGATCGTGCCATCGCACTCCAGCCTGGGCAACAGAGCGAGACTCGTCTCAAGAAAAAAAAAAAAAAAACAGGCTGTGTGGCACCTTACTAGAATACAGGACTTGGGGTTTGGGAAGCAGGGAGACGGAAAGGATGCAGGGGGGGTGATCATGTACGAGCCATGGCACTCCTCATTGGCAATCCCAAGAGAGACTTTTAGCCAGGCCCCAAGCCTTCTGACTGCCCTTGCACCCTCCCCTACCTAGGAGAGAGCAAGCCACATCAGTGCTCCTGGCAGATCCCTGCTTCCAGCTACGCTCAATATGCTATCTCCTGGGACAGCCAGAGCCCCCAGCACCTGGCACTGCTCTGCCAGCCCCTGACCGGAAGCGCTTCTCCCTGCAGAGCTGTGAGTGGGCTGGTGGGGCAGGTCAGGGAAATCTGGGGCTGGGTCGGGTCAGGAGCCTTAAGAACAGCAAAGTCCTAGGCTGGGAATATTCAAGAGGCATCACATCCTCAGCTACCTCTGACTTGACACTACCTACCACTCCCCAGATGCGGATTATATCAGTGCCGATGAGCTGGCCCAAGTGGAACAGATGCTGGCGCACCTGACCTCTGCATCTGCCCAGGCAGCAGCTGCCTCCCTGGTGAGTGGGAACACGGTGCACAGGTCCATGCCACTTGAATATGTGTGCACTCCTACACAGGCACAACGGACATCCACATAGCCAGGCATCCAACTCCAGCCCACCCTTCACTCTCCTCCCTGCAGCCCACCAGTGAGGAGGACCTCTGCCCCATCTGCTATGCCCACCCCATCTCTGCTGTGTTCCAGCCCTGTGGCCACAAGTCCTGCAAGTAAGTGGGCCCCACAGCTTGGTGGTGGGGAGAGCAGTAGGTACATGCAGGGCAGTCCTCATCCCCTCCCCTGTTGTAGAGCCTGTATCAACCAGCACCTGATGAACAACAAGGACTGCTTCTTCTGCAAAACCACCATCGTGTCTGTAGAGGACTGGGAGAAGGGAGCCAATACGAGTACTACCTCCTCAGCTGCCTAGCCCTCACAGCCTGTGCCATCCTGGAACCTCCACCTTTGAACCCAGAGCCAGGCTGGGCCCTATTTATGAGCTCCCTTTGCCCTTCTCCTGTATCCCACACCACCACATCCAACCTCCTTGCCTGCCTGTATCCTCATTGGTGGGAGCCCAGCCATGGCCCTAATTGTGCCTGAGCTTGACTTTCAGTCAGGGCCACAGTGAGCATTAAATTATTATTCCATACAGCCCTGGCCCTGGCCCTTCTTGAGGGAGTGGGGTTTGTGGGGTGTGCCCAGCAGGGATCCTGCCAGATGATGTCCACATGAGAAGGCAGGTGTCCAACAGCTTCAGCTTCACCCAGTGCCCCCCAGACAAATAATGACAAGTCCAGGGTCTTCTGATGTGTCAGGCCAGCACTCCCCTTGCTGATGGGAAAACCGGGGCTCGGCCAGCCCCACTGCATCCCCTCACATGATGATACGAGGCTCTGGCACTGACTCGCCAATAGACTTGTGGGGCAGCACGCTGGCTCCGTTGAGGTAGAGCTCATCATTAACTATGACGTCCTCACCCAGCACTGTCACGTTCTCCATGCGTACCTCCAGGAGAGGATAGGCCTTGTCAGGGAGGCAGGCACACTCCCCGCCCCTCTCCCCACCCAGCCCAGCCCACAGGCTTACCCACTGACCCACGCGGCAGCGCCAGCCCACAATGCAGGACTCAAGCCAGGAATGGGAACGGATCCGGGCATCCCGCAGCACCGTGCACCGCCGGATACACACACCATCTTCGACCACCACGCCAGGTCCCAGGCTCACATTGGGGCCAATGCTGCAGTTCTGGCCGATGCGGGCACTTGGGTCCTGAGAGCGGTGGGAAAAATACAAGTGGGCCACTTGTCTCCCAAGACTGAGGGGGTTAATGATGGGCTGGGCAAGGGCCTCACCACCAGCACGTTGCCCACAATGCCAGGGCCTGAGCACAGCCGCTCAGGCTGCTTCTGCCTCAGTGACTGCAGGAAGAGGCACATGCCAGTGAGGAAGTCCTTGGGCTGCCCAATGTCCATCCAGAAGCCTGTAGGGAGGGATGCATCAGGGGCCTCAGCCCAGCCACAGACCACCCCCACCCTGTGGCCTCCCTGCCTCACCCTGTAACTCCATGGCATATAGCTGCCCCTCCTTGGCCATAATGGGGAAGACCTCCTTCTCAATGGACGTAGGCTGCAGCTGTGGGAGTGGGCAGCTTGTGAGCAGGGTCATGGCGGTGATGGCCTGCCCCACCCCAGCCCACCAACAGCTGTCTCCTACACACCTGGATGCGCTGCAGCACTGCAGGGCTCAGGATGTACATGCCTGCGTTGATCTTATTGGACACAAACACCTGTGGCTTCTCCACGAACCGGTGAATGCGGCCTGTGTCAGCCTCACACACCACCACACCGTACTTGGAGGGTTCCTCCACCTTGGTCACCTGAATGCAAGGAAGGGGACCTCGGACCTAGTCCAGTGTTCCTAAGCCTTGATACACATGCCGTTCCAGATCTCAAGAGACTCTGCCCCAAGTGCTTAAAGATACATACTGCACAGCTCTGTATCCATAACATCCGAAGGCAGATGAAGGCTAGGGGGCATGGGAGGCTGGGCATGGAGGGTGAAAGTGTCAAGAGAGAGAAGACCTGGCGCCTTACCAGGATGGAGCCCTCCTGGCCATGGTGCCGGTGGAACTGCACCATGGCTTGGAAGGGGAAATCGCAGATCACGTCACTGTTGAGGACGAAGAAAGGGTCTGCAGTCTCAGAGAGTAGGTCACGGGCCAGCGCCAGGGGCCCAGCTGGGGGAAGGGGACAGGTCACCACCTTGCTGGAGGTCTGAGTCCCTGGATTCAGGCTCAGCAGGCCCACTCCAGGCTGGGTCTTACCCTTTTCCTGGCCTTAAACCCTCCCCCAAGGGACCTTTCTGCCTCTACTGACCTGTCCCCAAAGGCTCCTCTTCATGGGACATGGAGATTCGGATTCCCAGCTGGAAGGAAGAGGCCCCCCCAGTCAGGTTCTACCAGGATGGGAAGTTGGGCGGGGACCGAGAATAAGGGCCAAGAGTCTGTGCCTCACCCTCTGCTCCTGTGCCTTCATTTCCTTCTCCAGCACCTGCGACATGTAGCTCACGGCCAGGATCACGTGGTCCACGCCTGCCTGTCAGAACGCAGGCCGACGGGCGGGCTCAGTCAGAAGGTACGGGAGCCCCTGACCCCTAGTCGCTGGCCATCCCTAGTCCCGCCAGATCCGAACGCGACTCTGATCCCGACCCAGGGTCTTACCGCGGCTAGCGCCTCCACTTGGTGCAGCAAGATGGGCTTATTGCAGAAGTCCACCAGTGGCTTCGGGGTGCTCAGCGTCAGCGGCCGTAGCCGCGTCCCATAGCCCCCCACTAAGATCAGTGCCTTCATCGCGCCTGCGGACGTTGAGGGGGTGTCCCGGGCTCTGAGGTGCCTGCAGCCCGCCTGGCCGGTCCCTGCCGCGCACTCCCAACGCCGTGCCCGGCCCCGCGCCCTTCACCAACCCGCCTGACAGACTCTGGCTCCACCTCGTCCGCCCGGTCGCCCTGACGCCGGATCCAGGGCCGCCACAACACAGAACGCGACACCGGGTAGACGGCTGCTGGCCCCGAACTCAGGCCGGACCCGGCGCGGGCAGTGACGCGACCACCGCGGGCCAATCGGCTGCCGCGTACGTGGCACGGCCGCCGGCGTCGGAACGTTGGAGCGCAGCGCTGCGACAGACGTAGCCAATGAGCGCCCGAGTACGCCGGGCTGCCATGGAGACCC
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TGAGCCTTCTTAAAGTGGTACCCCAGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAAGCCAAGGCAGGTGGATCACCTGAGGTCAGGAATTCGAGACCAGCCTGGCCAACCTGGTGAAACCCTGTCTCTACTAAAAATACAACAATTAGCCGGGCGTGGTGGTGGGCGTCTGCAATTCCAGCTACTCGGGAGGCTAAAGCAGGAGAATCACTTGAACCCGGGAGGTGGAGGTTGCAGTGAGCCGAGATCGTGCCATCGCACTCCAGCCTGGGCAACAGAGCGAGACTCGTCTCAAGAAAAAAAAAAAAAAAACAGGCTGTGTGGCACCTTACTAGAATACAGGACTTGGGGTTTGGGAAGCAGGGAGACGGAAAGGATGCAGGGGGGGTGATCATGTACGAGCCATGGCACTCCTCATTGGCAATCCCAAGAGAGACTTTTAGCCAGGCCCCAAGCCTTCTGACTGCCCTTGCACCCTCCCCTACCTAGGAGAGAGCAAGCCACATCAGTGCTCCTGGCAGATCCCTGCTTCCAGCTACGCTCAATATGCTATCTCCTGGGACAGCCAGAGCCCCCAGCACCTGGCACTGCTCTGCCAGCCCCTGACCGGAAGCGCTTCTCCCTGCAGAGCTGTGAGTGGGCTGGTGGGGCAGGTCAGGGAAATCTGGGGCTGGGTCGGGTCAGGAGCCTTAAGAACAGCAAAGTCCTAGGCTGGGAATATTCAAGAGGCATCACATCCTCAGCTACCTCTGACTTGACACTACCTACCACTCCCCAGATGCGGATTATATCAGTGCCGATGAGCTGGCCCAAGTGGAACAGATGCTGGCGCACCTGACCTCTGCATCTGCCCAGGCAGCAGCTGCCTCCCTGGTGAGTGGGAACACGGTGCACAGGTCCATGCCACTTGAATATGTGTGCACTCCTACACAGGCACAACGGACATCCACATAGCCAGGCATCCAACTCCAGCCCACCCTTCACTCTCCTCCCTGCAGCCCACCAGTGAGGAGGACCTCTGCCCCATCTGCTATGCCCACCCCATCTCTGCTGTGTTCCAGCCCTGTGGCCACAAGTCCTGCAAGTAAGTGGGCCCCACAGCTTGGTGGTGGGGAGAGCAGTAGGTACATGCAGGGCAGTCCTCATCCCCTCCCCTGTTGTAGAGCCTGTATCAACCAGCACCTGATGAACAACAAGGACTGCTTCTTCTGCAAAACCACCATCGTGTCTGTAGAGGACTGGGAGAAGGGAGCCAATACGAGTACTACCTCCTCAGCTGCCTAGCCCTCACAGCCTGTGCCATCCTGGAACCTCCACCTTTGAACCCAGAGCCAGGCTGGGCCCTATTTATGAGCTCCCTTTGCCCTTCTCCTGTATCCCACACCACCACATCCAACCTCCTTGCCTGCCTGTATCCTCATTGGTGGGAGCCCAGCCATGGCCCTAATTGTGCCTGAGCTTGACTTTCAGTCAGGGCCACAGTGAGCATTAAATTATTATTCCATACAGCCCTGGCCCTGGCCCTTCTTGAGGGAGTGGGGTTTGTGGGGTGTGCCCAGCAGGGATCCTGCCAGATGATGTCCACATGAGAAGGCAGGTGTCCAACAGCTTCAGCTTCACCCAGTGCCCCCCAGACAAATAATGACAAGTCCAGGGTCTTCTGATGTGTCAGGCCAGCACTCCCCTTGCTGATGGGAAAACCGGGGCTCGGCCAGCCCCACTGCATCCCCTCACATGATGATACGAGGCTCTGGCACTGACTCGCCAATAGACTTGTGGGGCAGCACGCTGGCTCCGTTGAGGTAGAGCTCATCATTAACTATGACGTCCTCACCCAGCACTGTCACGTTCTCCATGCGTACCTCCAGGAGAGGATAGGCCTTGTCAGGGAGGCAGGCACACTCCCCGCCCCTCTCCCCACCCAGCCCAGCCCACAGGCTTACCCACTGACCCACGCGGCAGCGCCAGCCCACAATGCAGGACTCAAGCCAGGAATGGGAACGGATCCGGGCATCCCGCAGCACCGTGCACCGCCAGATACACACACCATCTTCGACCACCACGCCAGGTCCCAGGCTCACATTGGGGCCAATGCTGCAGTTCTGGCCGATGCGGGCACTTGGGTCCTGAGAGCGGTGGGAAAAATACAAGTGGGCCACTTGTCTCCCAAGACTGAGGGGGTTAATGATGGGCTGGGCAAGGGCCTCACCACCAGCACGTTGCCCACAATGCCAGGGCCTGAGCACAGCCGCTCAGGCTGCTTCTGCCTCAGTGACTGCAGGAAGAGGCACATGCCAGTGAGGAAGTCCTTGGGCTGCCCAATGTCCATCCAGAAGCCTGTAGGGAGGGATGCATCAGGGGCCTCAGCCCAGCCACAGACCACCCCCACCCTGTGGCCTCCCTGCCTCACCCTGTAACTCCATGGCATATAGCTGCCCCTCCTTGGCCATAATGGGGAAGACCTCCTTCTCAATGGACGTAGGCTGCAGCTGTGGGAGTGGGCAGCTTGTGAGCAGGGTCATGGCGGTGATGGCCTGCCCCACCCCAGCCCACCAACAGCTGTCTCCTACACACCTGGATGCGCTGCAGCACTGCAGGGCTCAGGATGTACATGCCTGCGTTGATCTTATTGGACACAAACACCTGTGGCTTCTCCACGAACCGGTGAATGCGGCCTGTGTCAGCCTCACACACCACCACACCGTACTTGGAGGGTTCCTCCACCTTGGTCACCTGAATGCAAGGAAGGGGACCTCGGACCTAGTCCAGTGTTCCTAAGCCTTGATACACATGCCGTTCCAGATCTCAAGAGACTCTGCCCCAAGTGCTTAAAGATACATACTGCACAGCTCTGTATCCATAACATCCGAAGGCAGATGAAGGCTAGGGGGCATGGGAGGCTGGGCATGGAGGGTGAAAGTGTCAAGAGAGAGAAGACCTGGCGCCTTACCAGGATGGAGCCCTCCTGGCCATGGTGCCGGTGGAACTGCACCATGGCTTGGAAGGGGAAATCGCAGATCACGTCACTGTTGAGGACGAAGAAAGGGTCTGCAGTCTCAGAGAGTAGGTCACGGGCCAGCGCCAGGGGCCCAGCTGGGGGAAGGGGACAGGTCACCACCTTGCTGGAGGTCTGAGTCCCTGGATTCAGGCTCAGCAGGCCCACTCCAGGCTGGGTCTTACCCTTTTCCTGGCCTTAAACCCTCCCCCAAGGGACCTTTCTGCCTCTACTGACCTGTCCCCAAAGGCTCCTCTTCATGGGACATGGAGATTCGGATTCCCAGCTGGAAGGAAGAGGCCCCCCCAGTCAGGTTCTACCAGGATGGGAAGTTGGGCGGGGACCGAGAATAAGGGCCAAGAGTCTGTGCCTCACCCTCTGCTCCTGTGCCTTCATTTCCTTCTCCAGCACCTGCGACATGTAGCTCACGGCCAGGATCACGTGGTCCACGCCTGCCTGTCAGAACGCAGGCCGACGGGCGGGCTCAGTCAGAAGGTACGGGAGCCCCTGACCCCTAGTCGCTGGCCATCCCTAGTCCCGCCAGATCCGAACGCGACTCTGATCCCGACCCAGGGTCTTACCGCGGCTAGCGCCTCCACTTGGTGCAGCAAGATGGGCTTATTGCAGAAGTCCACCAGTGGCTTCGGGGTGCTCAGCGTCAGCGGCCGTAGCCGCGTCCCATAGCCCCCCACTAAGATCAGTGCCTTCATCGCGCCTGCGGACGTTGAGGGGGTGTCCCGGGCTCTGAGGTGCCTGCAGCCCGCCTGGCCGGTCCCTGCCGCGCACTCCCAACGCCGTGCCCGGCCCCGCGCCCTTCACCAACCCGCCTGACAGACTCTGGCTCCACCTCGTCCGCCCGGTCGCCCTGACGCCGGATCCAGGGCCGCCACAACACAGAACGCGACACCGGGTAGACGGCTGCTGGCCCCGAACTCAGGCCGGACCCGGCGCGGGCAGTGACGCGACCACCGCGGGCCAATCGGCTGCCGCGTACGTGGCACGGCCGCCGGCGTCGGAACGTTGGAGCGCAGCGCTGCGACAGACGTAGCCAATGAGCGCCCGAGTACGCCGGGCTGCCATGGAGACCC
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Task1_train_7026
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Here’s a variant in GMPPB (GDP-mannose pyrophosphorylase B) located on Chromosome 3. What is the predicted biological effect — harmless or disease-causing?
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Pathogenic; Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B14
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TGAGCCTTCTTAAAGTGGTACCCCAGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAAGCCAAGGCAGGTGGATCACCTGAGGTCAGGAATTCGAGACCAGCCTGGCCAACCTGGTGAAACCCTGTCTCTACTAAAAATACAACAATTAGCCGGGCGTGGTGGTGGGCGTCTGCAATTCCAGCTACTCGGGAGGCTAAAGCAGGAGAATCACTTGAACCCGGGAGGTGGAGGTTGCAGTGAGCCGAGATCGTGCCATCGCACTCCAGCCTGGGCAACAGAGCGAGACTCGTCTCAAGAAAAAAAAAAAAAAAACAGGCTGTGTGGCACCTTACTAGAATACAGGACTTGGGGTTTGGGAAGCAGGGAGACGGAAAGGATGCAGGGGGGGTGATCATGTACGAGCCATGGCACTCCTCATTGGCAATCCCAAGAGAGACTTTTAGCCAGGCCCCAAGCCTTCTGACTGCCCTTGCACCCTCCCCTACCTAGGAGAGAGCAAGCCACATCAGTGCTCCTGGCAGATCCCTGCTTCCAGCTACGCTCAATATGCTATCTCCTGGGACAGCCAGAGCCCCCAGCACCTGGCACTGCTCTGCCAGCCCCTGACCGGAAGCGCTTCTCCCTGCAGAGCTGTGAGTGGGCTGGTGGGGCAGGTCAGGGAAATCTGGGGCTGGGTCGGGTCAGGAGCCTTAAGAACAGCAAAGTCCTAGGCTGGGAATATTCAAGAGGCATCACATCCTCAGCTACCTCTGACTTGACACTACCTACCACTCCCCAGATGCGGATTATATCAGTGCCGATGAGCTGGCCCAAGTGGAACAGATGCTGGCGCACCTGACCTCTGCATCTGCCCAGGCAGCAGCTGCCTCCCTGGTGAGTGGGAACACGGTGCACAGGTCCATGCCACTTGAATATGTGTGCACTCCTACACAGGCACAACGGACATCCACATAGCCAGGCATCCAACTCCAGCCCACCCTTCACTCTCCTCCCTGCAGCCCACCAGTGAGGAGGACCTCTGCCCCATCTGCTATGCCCACCCCATCTCTGCTGTGTTCCAGCCCTGTGGCCACAAGTCCTGCAAGTAAGTGGGCCCCACAGCTTGGTGGTGGGGAGAGCAGTAGGTACATGCAGGGCAGTCCTCATCCCCTCCCCTGTTGTAGAGCCTGTATCAACCAGCACCTGATGAACAACAAGGACTGCTTCTTCTGCAAAACCACCATCGTGTCTGTAGAGGACTGGGAGAAGGGAGCCAATACGAGTACTACCTCCTCAGCTGCCTAGCCCTCACAGCCTGTGCCATCCTGGAACCTCCACCTTTGAACCCAGAGCCAGGCTGGGCCCTATTTATGAGCTCCCTTTGCCCTTCTCCTGTATCCCACACCACCACATCCAACCTCCTTGCCTGCCTGTATCCTCATTGGTGGGAGCCCAGCCATGGCCCTAATTGTGCCTGAGCTTGACTTTCAGTCAGGGCCACAGTGAGCATTAAATTATTATTCCATACAGCCCTGGCCCTGGCCCTTCTTGAGGGAGTGGGGTTTGTGGGGTGTGCCCAGCAGGGATCCTGCCAGATGATGTCCACATGAGAAGGCAGGTGTCCAACAGCTTCAGCTTCACCCAGTGCCCCCCAGACAAATAATGACAAGTCCAGGGTCTTCTGATGTGTCAGGCCAGCACTCCCCTTGCTGATGGGAAAACCGGGGCTCGGCCAGCCCCACTGCATCCCCTCACATGATGATACGAGGCTCTGGCACTGACTCGCCAATAGACTTGTGGGGCAGCACGCTGGCTCCGTTGAGGTAGAGCTCATCATTAACTATGACGTCCTCACCCAGCACTGTCACGTTCTCCATGCGTACCTCCAGGAGAGGATAGGCCTTGTCAGGGAGGCAGGCACACTCCCCGCCCCTCTCCCCACCCAGCCCAGCCCACAGGCTTACCCACTGACCCACGCGGCAGCGCCAGCCCACAATGCAGGACTCAAGCCAGGAATGGGAACGGATCCGGGCATCCCGCAGCACCGTGCACCGCCGGATACACACACCATCTTCGACCACCACGCCAGGTCCCAGGCTCACATTGGGGCCAATGCTGCAGTTCTGGCCGATGCGGGCACTTGGGTCCTGAGAGCGGTGGGAAAAATACAAGTGGGCCACTTGTCTCCCAAGACTGAGGGGGTTAATGATGGGCTGGGCAAGGGCCTCACCACCAGCACGTTGCCCACAATGCCAGGGCCTGAGCACAGCCGCTCAGGCTGCTTCTGCCTCAGTGACTGCAGGAAGAGGCACATGCCAGTGAGGAAGTCCTTGGGCTGCCCAATGTCCATCCAGAAGCCTGTAGGGAGGGATGCATCAGGGGCCTCAGCCCAGCCACAGACCACCCCCACCCTGTGGCCTCCCTGCCTCACCCTGTAACTCCATGGCATATAGCTGCCCCTCCTTGGCCATAATGGGGAAGACCTCCTTCTCAATGGACGTAGGCTGCAGCTGTGGGAGTGGGCAGCTTGTGAGCAGGGTCATGGCGGTGATGGCCTGCCCCACCCCAGCCCACCAACAGCTGTCTCCTACACACCTGGATGCGCTGCAGCACTGCAGGGCTCAGGATGTACATGCCTGCGTTGATCTTATTGGACACAAACACCTGTGGCTTCTCCACGAACCGGTGAATGCGGCCTGTGTCAGCCTCACACACCACCACACCGTACTTGGAGGGTTCCTCCACCTTGGTCACCTGAATGCAAGGAAGGGGACCTCGGACCTAGTCCAGTGTTCCTAAGCCTTGATACACATGCCGTTCCAGATCTCAAGAGACTCTGCCCCAAGTGCTTAAAGATACATACTGCACAGCTCTGTATCCATAACATCCGAAGGCAGATGAAGGCTAGGGGGCATGGGAGGCTGGGCATGGAGGGTGAAAGTGTCAAGAGAGAGAAGACCTGGCGCCTTACCAGGATGGAGCCCTCCTGGCCATGGTGCCGGTGGAACTGCACCATGGCTTGGAAGGGGAAATCGCAGATCACGTCACTGTTGAGGACGAAGAAAGGGTCTGCAGTCTCAGAGAGTAGGTCACGGGCCAGCGCCAGGGGCCCAGCTGGGGGAAGGGGACAGGTCACCACCTTGCTGGAGGTCTGAGTCCCTGGATTCAGGCTCAGCAGGCCCACTCCAGGCTGGGTCTTACCCTTTTCCTGGCCTTAAACCCTCCCCCAAGGGACCTTTCTGCCTCTACTGACCTGTCCCCAAAGGCTCCTCTTCATGGGACATGGAGATTCGGATTCCCAGCTGGAAGGAAGAGGCCCCCCCAGTCAGGTTCTACCAGGATGGGAAGTTGGGCGGGGACCGAGAATAAGGGCCAAGAGTCTGTGCCTCACCCTCTGCTCCTGTGCCTTCATTTCCTTCTCCAGCACCTGCGACATGTAGCTCACGGCCAGGATCACGTGGTCCACGCCTGCCTGTCAGAACGCAGGCCGACGGGCGGGCTCAGTCAGAAGGTACGGGAGCCCCTGACCCCTAGTCGCTGGCCATCCCTAGTCCCGCCAGATCCGAACGCGACTCTGATCCCGACCCAGGGTCTTACCGCGGCTAGCGCCTCCACTTGGTGCAGCAAGATGGGCTTATTGCAGAAGTCCACCAGTGGCTTCGGGGTGCTCAGCGTCAGCGGCCGTAGCCGCGTCCCATAGCCCCCCACTAAGATCAGTGCCTTCATCGCGCCTGCGGACGTTGAGGGGGTGTCCCGGGCTCTGAGGTGCCTGCAGCCCGCCTGGCCGGTCCCTGCCGCGCACTCCCAACGCCGTGCCCGGCCCCGCGCCCTTCACCAACCCGCCTGACAGACTCTGGCTCCACCTCGTCCGCCCGGTCGCCCTGACGCCGGATCCAGGGCCGCCACAACACAGAACGCGACACCGGGTAGACGGCTGCTGGCCCCGAACTCAGGCCGGACCCGGCGCGGGCAGTGACGCGACCACCGCGGGCCAATCGGCTGCCGCGTACGTGGCACGGCCGCCGGCGTCGGAACGTTGGAGCGCAGCGCTGCGACAGACGTAGCCAATGAGCGCCCGAGTACGCCGGGCTGCCATGGAGACCC
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TGAGCCTTCTTAAAGTGGTACCCCAGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAAGCCAAGGCAGGTGGATCACCTGAGGTCAGGAATTCGAGACCAGCCTGGCCAACCTGGTGAAACCCTGTCTCTACTAAAAATACAACAATTAGCCGGGCGTGGTGGTGGGCGTCTGCAATTCCAGCTACTCGGGAGGCTAAAGCAGGAGAATCACTTGAACCCGGGAGGTGGAGGTTGCAGTGAGCCGAGATCGTGCCATCGCACTCCAGCCTGGGCAACAGAGCGAGACTCGTCTCAAGAAAAAAAAAAAAAAAACAGGCTGTGTGGCACCTTACTAGAATACAGGACTTGGGGTTTGGGAAGCAGGGAGACGGAAAGGATGCAGGGGGGGTGATCATGTACGAGCCATGGCACTCCTCATTGGCAATCCCAAGAGAGACTTTTAGCCAGGCCCCAAGCCTTCTGACTGCCCTTGCACCCTCCCCTACCTAGGAGAGAGCAAGCCACATCAGTGCTCCTGGCAGATCCCTGCTTCCAGCTACGCTCAATATGCTATCTCCTGGGACAGCCAGAGCCCCCAGCACCTGGCACTGCTCTGCCAGCCCCTGACCGGAAGCGCTTCTCCCTGCAGAGCTGTGAGTGGGCTGGTGGGGCAGGTCAGGGAAATCTGGGGCTGGGTCGGGTCAGGAGCCTTAAGAACAGCAAAGTCCTAGGCTGGGAATATTCAAGAGGCATCACATCCTCAGCTACCTCTGACTTGACACTACCTACCACTCCCCAGATGCGGATTATATCAGTGCCGATGAGCTGGCCCAAGTGGAACAGATGCTGGCGCACCTGACCTCTGCATCTGCCCAGGCAGCAGCTGCCTCCCTGGTGAGTGGGAACACGGTGCACAGGTCCATGCCACTTGAATATGTGTGCACTCCTACACAGGCACAACGGACATCCACATAGCCAGGCATCCAACTCCAGCCCACCCTTCACTCTCCTCCCTGCAGCCCACCAGTGAGGAGGACCTCTGCCCCATCTGCTATGCCCACCCCATCTCTGCTGTGTTCCAGCCCTGTGGCCACAAGTCCTGCAAGTAAGTGGGCCCCACAGCTTGGTGGTGGGGAGAGCAGTAGGTACATGCAGGGCAGTCCTCATCCCCTCCCCTGTTGTAGAGCCTGTATCAACCAGCACCTGATGAACAACAAGGACTGCTTCTTCTGCAAAACCACCATCGTGTCTGTAGAGGACTGGGAGAAGGGAGCCAATACGAGTACTACCTCCTCAGCTGCCTAGCCCTCACAGCCTGTGCCATCCTGGAACCTCCACCTTTGAACCCAGAGCCAGGCTGGGCCCTATTTATGAGCTCCCTTTGCCCTTCTCCTGTATCCCACACCACCACATCCAACCTCCTTGCCTGCCTGTATCCTCATTGGTGGGAGCCCAGCCATGGCCCTAATTGTGCCTGAGCTTGACTTTCAGTCAGGGCCACAGTGAGCATTAAATTATTATTCCATACAGCCCTGGCCCTGGCCCTTCTTGAGGGAGTGGGGTTTGTGGGGTGTGCCCAGCAGGGATCCTGCCAGATGATGTCCACATGAGAAGGCAGGTGTCCAACAGCTTCAGCTTCACCCAGTGCCCCCCAGACAAATAATGACAAGTCCAGGGTCTTCTGATGTGTCAGGCCAGCACTCCCCTTGCTGATGGGAAAACCGGGGCTCGGCCAGCCCCACTGCATCCCCTCACATGATGATACGAGGCTCTGGCACTGACTCGCCAATAGACTTGTGGGGCAGCACGCTGGCTCCGTTGAGGTAGAGCTCATCATTAACTATGACGTCCTCACCCAGCACTGTCACGTTCTCCATGCGTACCTCCAGGAGAGGATAGGCCTTGTCAGGGAGGCAGGCACACTCCCCGCCCCTCTCCCCACCCAGCCCAGCCCACAGGCTTACCCACTGACCCACGCGGCAGCGCCAGCCCACAATGCAGGACTCAAGCCAGGAATGGGAACGGATCCGGGCATCCCGCAGCACCGTGCACCGCCAGATACACACACCATCTTCGACCACCACGCCAGGTCCCAGGCTCACATTGGGGCCAATGCTGCAGTTCTGGCCGATGCGGGCACTTGGGTCCTGAGAGCGGTGGGAAAAATACAAGTGGGCCACTTGTCTCCCAAGACTGAGGGGGTTAATGATGGGCTGGGCAAGGGCCTCACCACCAGCACGTTGCCCACAATGCCAGGGCCTGAGCACAGCCGCTCAGGCTGCTTCTGCCTCAGTGACTGCAGGAAGAGGCACATGCCAGTGAGGAAGTCCTTGGGCTGCCCAATGTCCATCCAGAAGCCTGTAGGGAGGGATGCATCAGGGGCCTCAGCCCAGCCACAGACCACCCCCACCCTGTGGCCTCCCTGCCTCACCCTGTAACTCCATGGCATATAGCTGCCCCTCCTTGGCCATAATGGGGAAGACCTCCTTCTCAATGGACGTAGGCTGCAGCTGTGGGAGTGGGCAGCTTGTGAGCAGGGTCATGGCGGTGATGGCCTGCCCCACCCCAGCCCACCAACAGCTGTCTCCTACACACCTGGATGCGCTGCAGCACTGCAGGGCTCAGGATGTACATGCCTGCGTTGATCTTATTGGACACAAACACCTGTGGCTTCTCCACGAACCGGTGAATGCGGCCTGTGTCAGCCTCACACACCACCACACCGTACTTGGAGGGTTCCTCCACCTTGGTCACCTGAATGCAAGGAAGGGGACCTCGGACCTAGTCCAGTGTTCCTAAGCCTTGATACACATGCCGTTCCAGATCTCAAGAGACTCTGCCCCAAGTGCTTAAAGATACATACTGCACAGCTCTGTATCCATAACATCCGAAGGCAGATGAAGGCTAGGGGGCATGGGAGGCTGGGCATGGAGGGTGAAAGTGTCAAGAGAGAGAAGACCTGGCGCCTTACCAGGATGGAGCCCTCCTGGCCATGGTGCCGGTGGAACTGCACCATGGCTTGGAAGGGGAAATCGCAGATCACGTCACTGTTGAGGACGAAGAAAGGGTCTGCAGTCTCAGAGAGTAGGTCACGGGCCAGCGCCAGGGGCCCAGCTGGGGGAAGGGGACAGGTCACCACCTTGCTGGAGGTCTGAGTCCCTGGATTCAGGCTCAGCAGGCCCACTCCAGGCTGGGTCTTACCCTTTTCCTGGCCTTAAACCCTCCCCCAAGGGACCTTTCTGCCTCTACTGACCTGTCCCCAAAGGCTCCTCTTCATGGGACATGGAGATTCGGATTCCCAGCTGGAAGGAAGAGGCCCCCCCAGTCAGGTTCTACCAGGATGGGAAGTTGGGCGGGGACCGAGAATAAGGGCCAAGAGTCTGTGCCTCACCCTCTGCTCCTGTGCCTTCATTTCCTTCTCCAGCACCTGCGACATGTAGCTCACGGCCAGGATCACGTGGTCCACGCCTGCCTGTCAGAACGCAGGCCGACGGGCGGGCTCAGTCAGAAGGTACGGGAGCCCCTGACCCCTAGTCGCTGGCCATCCCTAGTCCCGCCAGATCCGAACGCGACTCTGATCCCGACCCAGGGTCTTACCGCGGCTAGCGCCTCCACTTGGTGCAGCAAGATGGGCTTATTGCAGAAGTCCACCAGTGGCTTCGGGGTGCTCAGCGTCAGCGGCCGTAGCCGCGTCCCATAGCCCCCCACTAAGATCAGTGCCTTCATCGCGCCTGCGGACGTTGAGGGGGTGTCCCGGGCTCTGAGGTGCCTGCAGCCCGCCTGGCCGGTCCCTGCCGCGCACTCCCAACGCCGTGCCCGGCCCCGCGCCCTTCACCAACCCGCCTGACAGACTCTGGCTCCACCTCGTCCGCCCGGTCGCCCTGACGCCGGATCCAGGGCCGCCACAACACAGAACGCGACACCGGGTAGACGGCTGCTGGCCCCGAACTCAGGCCGGACCCGGCGCGGGCAGTGACGCGACCACCGCGGGCCAATCGGCTGCCGCGTACGTGGCACGGCCGCCGGCGTCGGAACGTTGGAGCGCAGCGCTGCGACAGACGTAGCCAATGAGCGCCCGAGTACGCCGGGCTGCCATGGAGACCC
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Task1_train_7027
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Here’s a variant in GMPPB (GDP-mannose pyrophosphorylase B) located on Chromosome 3. What is the predicted biological effect — harmless or disease-causing?
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Pathogenic; Autosomal recessive limb-girdle muscular dystrophy type 2T
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TGAGCCTTCTTAAAGTGGTACCCCAGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAAGCCAAGGCAGGTGGATCACCTGAGGTCAGGAATTCGAGACCAGCCTGGCCAACCTGGTGAAACCCTGTCTCTACTAAAAATACAACAATTAGCCGGGCGTGGTGGTGGGCGTCTGCAATTCCAGCTACTCGGGAGGCTAAAGCAGGAGAATCACTTGAACCCGGGAGGTGGAGGTTGCAGTGAGCCGAGATCGTGCCATCGCACTCCAGCCTGGGCAACAGAGCGAGACTCGTCTCAAGAAAAAAAAAAAAAAAACAGGCTGTGTGGCACCTTACTAGAATACAGGACTTGGGGTTTGGGAAGCAGGGAGACGGAAAGGATGCAGGGGGGGTGATCATGTACGAGCCATGGCACTCCTCATTGGCAATCCCAAGAGAGACTTTTAGCCAGGCCCCAAGCCTTCTGACTGCCCTTGCACCCTCCCCTACCTAGGAGAGAGCAAGCCACATCAGTGCTCCTGGCAGATCCCTGCTTCCAGCTACGCTCAATATGCTATCTCCTGGGACAGCCAGAGCCCCCAGCACCTGGCACTGCTCTGCCAGCCCCTGACCGGAAGCGCTTCTCCCTGCAGAGCTGTGAGTGGGCTGGTGGGGCAGGTCAGGGAAATCTGGGGCTGGGTCGGGTCAGGAGCCTTAAGAACAGCAAAGTCCTAGGCTGGGAATATTCAAGAGGCATCACATCCTCAGCTACCTCTGACTTGACACTACCTACCACTCCCCAGATGCGGATTATATCAGTGCCGATGAGCTGGCCCAAGTGGAACAGATGCTGGCGCACCTGACCTCTGCATCTGCCCAGGCAGCAGCTGCCTCCCTGGTGAGTGGGAACACGGTGCACAGGTCCATGCCACTTGAATATGTGTGCACTCCTACACAGGCACAACGGACATCCACATAGCCAGGCATCCAACTCCAGCCCACCCTTCACTCTCCTCCCTGCAGCCCACCAGTGAGGAGGACCTCTGCCCCATCTGCTATGCCCACCCCATCTCTGCTGTGTTCCAGCCCTGTGGCCACAAGTCCTGCAAGTAAGTGGGCCCCACAGCTTGGTGGTGGGGAGAGCAGTAGGTACATGCAGGGCAGTCCTCATCCCCTCCCCTGTTGTAGAGCCTGTATCAACCAGCACCTGATGAACAACAAGGACTGCTTCTTCTGCAAAACCACCATCGTGTCTGTAGAGGACTGGGAGAAGGGAGCCAATACGAGTACTACCTCCTCAGCTGCCTAGCCCTCACAGCCTGTGCCATCCTGGAACCTCCACCTTTGAACCCAGAGCCAGGCTGGGCCCTATTTATGAGCTCCCTTTGCCCTTCTCCTGTATCCCACACCACCACATCCAACCTCCTTGCCTGCCTGTATCCTCATTGGTGGGAGCCCAGCCATGGCCCTAATTGTGCCTGAGCTTGACTTTCAGTCAGGGCCACAGTGAGCATTAAATTATTATTCCATACAGCCCTGGCCCTGGCCCTTCTTGAGGGAGTGGGGTTTGTGGGGTGTGCCCAGCAGGGATCCTGCCAGATGATGTCCACATGAGAAGGCAGGTGTCCAACAGCTTCAGCTTCACCCAGTGCCCCCCAGACAAATAATGACAAGTCCAGGGTCTTCTGATGTGTCAGGCCAGCACTCCCCTTGCTGATGGGAAAACCGGGGCTCGGCCAGCCCCACTGCATCCCCTCACATGATGATACGAGGCTCTGGCACTGACTCGCCAATAGACTTGTGGGGCAGCACGCTGGCTCCGTTGAGGTAGAGCTCATCATTAACTATGACGTCCTCACCCAGCACTGTCACGTTCTCCATGCGTACCTCCAGGAGAGGATAGGCCTTGTCAGGGAGGCAGGCACACTCCCCGCCCCTCTCCCCACCCAGCCCAGCCCACAGGCTTACCCACTGACCCACGCGGCAGCGCCAGCCCACAATGCAGGACTCAAGCCAGGAATGGGAACGGATCCGGGCATCCCGCAGCACCGTGCACCGCCGGATACACACACCATCTTCGACCACCACGCCAGGTCCCAGGCTCACATTGGGGCCAATGCTGCAGTTCTGGCCGATGCGGGCACTTGGGTCCTGAGAGCGGTGGGAAAAATACAAGTGGGCCACTTGTCTCCCAAGACTGAGGGGGTTAATGATGGGCTGGGCAAGGGCCTCACCACCAGCACGTTGCCCACAATGCCAGGGCCTGAGCACAGCCGCTCAGGCTGCTTCTGCCTCAGTGACTGCAGGAAGAGGCACATGCCAGTGAGGAAGTCCTTGGGCTGCCCAATGTCCATCCAGAAGCCTGTAGGGAGGGATGCATCAGGGGCCTCAGCCCAGCCACAGACCACCCCCACCCTGTGGCCTCCCTGCCTCACCCTGTAACTCCATGGCATATAGCTGCCCCTCCTTGGCCATAATGGGGAAGACCTCCTTCTCAATGGACGTAGGCTGCAGCTGTGGGAGTGGGCAGCTTGTGAGCAGGGTCATGGCGGTGATGGCCTGCCCCACCCCAGCCCACCAACAGCTGTCTCCTACACACCTGGATGCGCTGCAGCACTGCAGGGCTCAGGATGTACATGCCTGCGTTGATCTTATTGGACACAAACACCTGTGGCTTCTCCACGAACCGGTGAATGCGGCCTGTGTCAGCCTCACACACCACCACACCGTACTTGGAGGGTTCCTCCACCTTGGTCACCTGAATGCAAGGAAGGGGACCTCGGACCTAGTCCAGTGTTCCTAAGCCTTGATACACATGCCGTTCCAGATCTCAAGAGACTCTGCCCCAAGTGCTTAAAGATACATACTGCACAGCTCTGTATCCATAACATCCGAAGGCAGATGAAGGCTAGGGGGCATGGGAGGCTGGGCATGGAGGGTGAAAGTGTCAAGAGAGAGAAGACCTGGCGCCTTACCAGGATGGAGCCCTCCTGGCCATGGTGCCGGTGGAACTGCACCATGGCTTGGAAGGGGAAATCGCAGATCACGTCACTGTTGAGGACGAAGAAAGGGTCTGCAGTCTCAGAGAGTAGGTCACGGGCCAGCGCCAGGGGCCCAGCTGGGGGAAGGGGACAGGTCACCACCTTGCTGGAGGTCTGAGTCCCTGGATTCAGGCTCAGCAGGCCCACTCCAGGCTGGGTCTTACCCTTTTCCTGGCCTTAAACCCTCCCCCAAGGGACCTTTCTGCCTCTACTGACCTGTCCCCAAAGGCTCCTCTTCATGGGACATGGAGATTCGGATTCCCAGCTGGAAGGAAGAGGCCCCCCCAGTCAGGTTCTACCAGGATGGGAAGTTGGGCGGGGACCGAGAATAAGGGCCAAGAGTCTGTGCCTCACCCTCTGCTCCTGTGCCTTCATTTCCTTCTCCAGCACCTGCGACATGTAGCTCACGGCCAGGATCACGTGGTCCACGCCTGCCTGTCAGAACGCAGGCCGACGGGCGGGCTCAGTCAGAAGGTACGGGAGCCCCTGACCCCTAGTCGCTGGCCATCCCTAGTCCCGCCAGATCCGAACGCGACTCTGATCCCGACCCAGGGTCTTACCGCGGCTAGCGCCTCCACTTGGTGCAGCAAGATGGGCTTATTGCAGAAGTCCACCAGTGGCTTCGGGGTGCTCAGCGTCAGCGGCCGTAGCCGCGTCCCATAGCCCCCCACTAAGATCAGTGCCTTCATCGCGCCTGCGGACGTTGAGGGGGTGTCCCGGGCTCTGAGGTGCCTGCAGCCCGCCTGGCCGGTCCCTGCCGCGCACTCCCAACGCCGTGCCCGGCCCCGCGCCCTTCACCAACCCGCCTGACAGACTCTGGCTCCACCTCGTCCGCCCGGTCGCCCTGACGCCGGATCCAGGGCCGCCACAACACAGAACGCGACACCGGGTAGACGGCTGCTGGCCCCGAACTCAGGCCGGACCCGGCGCGGGCAGTGACGCGACCACCGCGGGCCAATCGGCTGCCGCGTACGTGGCACGGCCGCCGGCGTCGGAACGTTGGAGCGCAGCGCTGCGACAGACGTAGCCAATGAGCGCCCGAGTACGCCGGGCTGCCATGGAGACCC
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TGAGCCTTCTTAAAGTGGTACCCCAGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAAGCCAAGGCAGGTGGATCACCTGAGGTCAGGAATTCGAGACCAGCCTGGCCAACCTGGTGAAACCCTGTCTCTACTAAAAATACAACAATTAGCCGGGCGTGGTGGTGGGCGTCTGCAATTCCAGCTACTCGGGAGGCTAAAGCAGGAGAATCACTTGAACCCGGGAGGTGGAGGTTGCAGTGAGCCGAGATCGTGCCATCGCACTCCAGCCTGGGCAACAGAGCGAGACTCGTCTCAAGAAAAAAAAAAAAAAAACAGGCTGTGTGGCACCTTACTAGAATACAGGACTTGGGGTTTGGGAAGCAGGGAGACGGAAAGGATGCAGGGGGGGTGATCATGTACGAGCCATGGCACTCCTCATTGGCAATCCCAAGAGAGACTTTTAGCCAGGCCCCAAGCCTTCTGACTGCCCTTGCACCCTCCCCTACCTAGGAGAGAGCAAGCCACATCAGTGCTCCTGGCAGATCCCTGCTTCCAGCTACGCTCAATATGCTATCTCCTGGGACAGCCAGAGCCCCCAGCACCTGGCACTGCTCTGCCAGCCCCTGACCGGAAGCGCTTCTCCCTGCAGAGCTGTGAGTGGGCTGGTGGGGCAGGTCAGGGAAATCTGGGGCTGGGTCGGGTCAGGAGCCTTAAGAACAGCAAAGTCCTAGGCTGGGAATATTCAAGAGGCATCACATCCTCAGCTACCTCTGACTTGACACTACCTACCACTCCCCAGATGCGGATTATATCAGTGCCGATGAGCTGGCCCAAGTGGAACAGATGCTGGCGCACCTGACCTCTGCATCTGCCCAGGCAGCAGCTGCCTCCCTGGTGAGTGGGAACACGGTGCACAGGTCCATGCCACTTGAATATGTGTGCACTCCTACACAGGCACAACGGACATCCACATAGCCAGGCATCCAACTCCAGCCCACCCTTCACTCTCCTCCCTGCAGCCCACCAGTGAGGAGGACCTCTGCCCCATCTGCTATGCCCACCCCATCTCTGCTGTGTTCCAGCCCTGTGGCCACAAGTCCTGCAAGTAAGTGGGCCCCACAGCTTGGTGGTGGGGAGAGCAGTAGGTACATGCAGGGCAGTCCTCATCCCCTCCCCTGTTGTAGAGCCTGTATCAACCAGCACCTGATGAACAACAAGGACTGCTTCTTCTGCAAAACCACCATCGTGTCTGTAGAGGACTGGGAGAAGGGAGCCAATACGAGTACTACCTCCTCAGCTGCCTAGCCCTCACAGCCTGTGCCATCCTGGAACCTCCACCTTTGAACCCAGAGCCAGGCTGGGCCCTATTTATGAGCTCCCTTTGCCCTTCTCCTGTATCCCACACCACCACATCCAACCTCCTTGCCTGCCTGTATCCTCATTGGTGGGAGCCCAGCCATGGCCCTAATTGTGCCTGAGCTTGACTTTCAGTCAGGGCCACAGTGAGCATTAAATTATTATTCCATACAGCCCTGGCCCTGGCCCTTCTTGAGGGAGTGGGGTTTGTGGGGTGTGCCCAGCAGGGATCCTGCCAGATGATGTCCACATGAGAAGGCAGGTGTCCAACAGCTTCAGCTTCACCCAGTGCCCCCCAGACAAATAATGACAAGTCCAGGGTCTTCTGATGTGTCAGGCCAGCACTCCCCTTGCTGATGGGAAAACCGGGGCTCGGCCAGCCCCACTGCATCCCCTCACATGATGATACGAGGCTCTGGCACTGACTCGCCAATAGACTTGTGGGGCAGCACGCTGGCTCCGTTGAGGTAGAGCTCATCATTAACTATGACGTCCTCACCCAGCACTGTCACGTTCTCCATGCGTACCTCCAGGAGAGGATAGGCCTTGTCAGGGAGGCAGGCACACTCCCCGCCCCTCTCCCCACCCAGCCCAGCCCACAGGCTTACCCACTGACCCACGCGGCAGCGCCAGCCCACAATGCAGGACTCAAGCCAGGAATGGGAACGGATCCGGGCATCCCGCAGCACCGTGCACCGCCAGATACACACACCATCTTCGACCACCACGCCAGGTCCCAGGCTCACATTGGGGCCAATGCTGCAGTTCTGGCCGATGCGGGCACTTGGGTCCTGAGAGCGGTGGGAAAAATACAAGTGGGCCACTTGTCTCCCAAGACTGAGGGGGTTAATGATGGGCTGGGCAAGGGCCTCACCACCAGCACGTTGCCCACAATGCCAGGGCCTGAGCACAGCCGCTCAGGCTGCTTCTGCCTCAGTGACTGCAGGAAGAGGCACATGCCAGTGAGGAAGTCCTTGGGCTGCCCAATGTCCATCCAGAAGCCTGTAGGGAGGGATGCATCAGGGGCCTCAGCCCAGCCACAGACCACCCCCACCCTGTGGCCTCCCTGCCTCACCCTGTAACTCCATGGCATATAGCTGCCCCTCCTTGGCCATAATGGGGAAGACCTCCTTCTCAATGGACGTAGGCTGCAGCTGTGGGAGTGGGCAGCTTGTGAGCAGGGTCATGGCGGTGATGGCCTGCCCCACCCCAGCCCACCAACAGCTGTCTCCTACACACCTGGATGCGCTGCAGCACTGCAGGGCTCAGGATGTACATGCCTGCGTTGATCTTATTGGACACAAACACCTGTGGCTTCTCCACGAACCGGTGAATGCGGCCTGTGTCAGCCTCACACACCACCACACCGTACTTGGAGGGTTCCTCCACCTTGGTCACCTGAATGCAAGGAAGGGGACCTCGGACCTAGTCCAGTGTTCCTAAGCCTTGATACACATGCCGTTCCAGATCTCAAGAGACTCTGCCCCAAGTGCTTAAAGATACATACTGCACAGCTCTGTATCCATAACATCCGAAGGCAGATGAAGGCTAGGGGGCATGGGAGGCTGGGCATGGAGGGTGAAAGTGTCAAGAGAGAGAAGACCTGGCGCCTTACCAGGATGGAGCCCTCCTGGCCATGGTGCCGGTGGAACTGCACCATGGCTTGGAAGGGGAAATCGCAGATCACGTCACTGTTGAGGACGAAGAAAGGGTCTGCAGTCTCAGAGAGTAGGTCACGGGCCAGCGCCAGGGGCCCAGCTGGGGGAAGGGGACAGGTCACCACCTTGCTGGAGGTCTGAGTCCCTGGATTCAGGCTCAGCAGGCCCACTCCAGGCTGGGTCTTACCCTTTTCCTGGCCTTAAACCCTCCCCCAAGGGACCTTTCTGCCTCTACTGACCTGTCCCCAAAGGCTCCTCTTCATGGGACATGGAGATTCGGATTCCCAGCTGGAAGGAAGAGGCCCCCCCAGTCAGGTTCTACCAGGATGGGAAGTTGGGCGGGGACCGAGAATAAGGGCCAAGAGTCTGTGCCTCACCCTCTGCTCCTGTGCCTTCATTTCCTTCTCCAGCACCTGCGACATGTAGCTCACGGCCAGGATCACGTGGTCCACGCCTGCCTGTCAGAACGCAGGCCGACGGGCGGGCTCAGTCAGAAGGTACGGGAGCCCCTGACCCCTAGTCGCTGGCCATCCCTAGTCCCGCCAGATCCGAACGCGACTCTGATCCCGACCCAGGGTCTTACCGCGGCTAGCGCCTCCACTTGGTGCAGCAAGATGGGCTTATTGCAGAAGTCCACCAGTGGCTTCGGGGTGCTCAGCGTCAGCGGCCGTAGCCGCGTCCCATAGCCCCCCACTAAGATCAGTGCCTTCATCGCGCCTGCGGACGTTGAGGGGGTGTCCCGGGCTCTGAGGTGCCTGCAGCCCGCCTGGCCGGTCCCTGCCGCGCACTCCCAACGCCGTGCCCGGCCCCGCGCCCTTCACCAACCCGCCTGACAGACTCTGGCTCCACCTCGTCCGCCCGGTCGCCCTGACGCCGGATCCAGGGCCGCCACAACACAGAACGCGACACCGGGTAGACGGCTGCTGGCCCCGAACTCAGGCCGGACCCGGCGCGGGCAGTGACGCGACCACCGCGGGCCAATCGGCTGCCGCGTACGTGGCACGGCCGCCGGCGTCGGAACGTTGGAGCGCAGCGCTGCGACAGACGTAGCCAATGAGCGCCCGAGTACGCCGGGCTGCCATGGAGACCC
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Task1_train_7028
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A sequence alteration has been identified in GMPPB (GDP-mannose pyrophosphorylase B) on Chromosome 3. Is it disease-inducing or harmless?
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Pathogenic; Muscular dystrophy
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TGAGCCTTCTTAAAGTGGTACCCCAGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAAGCCAAGGCAGGTGGATCACCTGAGGTCAGGAATTCGAGACCAGCCTGGCCAACCTGGTGAAACCCTGTCTCTACTAAAAATACAACAATTAGCCGGGCGTGGTGGTGGGCGTCTGCAATTCCAGCTACTCGGGAGGCTAAAGCAGGAGAATCACTTGAACCCGGGAGGTGGAGGTTGCAGTGAGCCGAGATCGTGCCATCGCACTCCAGCCTGGGCAACAGAGCGAGACTCGTCTCAAGAAAAAAAAAAAAAAAACAGGCTGTGTGGCACCTTACTAGAATACAGGACTTGGGGTTTGGGAAGCAGGGAGACGGAAAGGATGCAGGGGGGGTGATCATGTACGAGCCATGGCACTCCTCATTGGCAATCCCAAGAGAGACTTTTAGCCAGGCCCCAAGCCTTCTGACTGCCCTTGCACCCTCCCCTACCTAGGAGAGAGCAAGCCACATCAGTGCTCCTGGCAGATCCCTGCTTCCAGCTACGCTCAATATGCTATCTCCTGGGACAGCCAGAGCCCCCAGCACCTGGCACTGCTCTGCCAGCCCCTGACCGGAAGCGCTTCTCCCTGCAGAGCTGTGAGTGGGCTGGTGGGGCAGGTCAGGGAAATCTGGGGCTGGGTCGGGTCAGGAGCCTTAAGAACAGCAAAGTCCTAGGCTGGGAATATTCAAGAGGCATCACATCCTCAGCTACCTCTGACTTGACACTACCTACCACTCCCCAGATGCGGATTATATCAGTGCCGATGAGCTGGCCCAAGTGGAACAGATGCTGGCGCACCTGACCTCTGCATCTGCCCAGGCAGCAGCTGCCTCCCTGGTGAGTGGGAACACGGTGCACAGGTCCATGCCACTTGAATATGTGTGCACTCCTACACAGGCACAACGGACATCCACATAGCCAGGCATCCAACTCCAGCCCACCCTTCACTCTCCTCCCTGCAGCCCACCAGTGAGGAGGACCTCTGCCCCATCTGCTATGCCCACCCCATCTCTGCTGTGTTCCAGCCCTGTGGCCACAAGTCCTGCAAGTAAGTGGGCCCCACAGCTTGGTGGTGGGGAGAGCAGTAGGTACATGCAGGGCAGTCCTCATCCCCTCCCCTGTTGTAGAGCCTGTATCAACCAGCACCTGATGAACAACAAGGACTGCTTCTTCTGCAAAACCACCATCGTGTCTGTAGAGGACTGGGAGAAGGGAGCCAATACGAGTACTACCTCCTCAGCTGCCTAGCCCTCACAGCCTGTGCCATCCTGGAACCTCCACCTTTGAACCCAGAGCCAGGCTGGGCCCTATTTATGAGCTCCCTTTGCCCTTCTCCTGTATCCCACACCACCACATCCAACCTCCTTGCCTGCCTGTATCCTCATTGGTGGGAGCCCAGCCATGGCCCTAATTGTGCCTGAGCTTGACTTTCAGTCAGGGCCACAGTGAGCATTAAATTATTATTCCATACAGCCCTGGCCCTGGCCCTTCTTGAGGGAGTGGGGTTTGTGGGGTGTGCCCAGCAGGGATCCTGCCAGATGATGTCCACATGAGAAGGCAGGTGTCCAACAGCTTCAGCTTCACCCAGTGCCCCCCAGACAAATAATGACAAGTCCAGGGTCTTCTGATGTGTCAGGCCAGCACTCCCCTTGCTGATGGGAAAACCGGGGCTCGGCCAGCCCCACTGCATCCCCTCACATGATGATACGAGGCTCTGGCACTGACTCGCCAATAGACTTGTGGGGCAGCACGCTGGCTCCGTTGAGGTAGAGCTCATCATTAACTATGACGTCCTCACCCAGCACTGTCACGTTCTCCATGCGTACCTCCAGGAGAGGATAGGCCTTGTCAGGGAGGCAGGCACACTCCCCGCCCCTCTCCCCACCCAGCCCAGCCCACAGGCTTACCCACTGACCCACGCGGCAGCGCCAGCCCACAATGCAGGACTCAAGCCAGGAATGGGAACGGATCCGGGCATCCCGCAGCACCGTGCACCGCCGGATACACACACCATCTTCGACCACCACGCCAGGTCCCAGGCTCACATTGGGGCCAATGCTGCAGTTCTGGCCGATGCGGGCACTTGGGTCCTGAGAGCGGTGGGAAAAATACAAGTGGGCCACTTGTCTCCCAAGACTGAGGGGGTTAATGATGGGCTGGGCAAGGGCCTCACCACCAGCACGTTGCCCACAATGCCAGGGCCTGAGCACAGCCGCTCAGGCTGCTTCTGCCTCAGTGACTGCAGGAAGAGGCACATGCCAGTGAGGAAGTCCTTGGGCTGCCCAATGTCCATCCAGAAGCCTGTAGGGAGGGATGCATCAGGGGCCTCAGCCCAGCCACAGACCACCCCCACCCTGTGGCCTCCCTGCCTCACCCTGTAACTCCATGGCATATAGCTGCCCCTCCTTGGCCATAATGGGGAAGACCTCCTTCTCAATGGACGTAGGCTGCAGCTGTGGGAGTGGGCAGCTTGTGAGCAGGGTCATGGCGGTGATGGCCTGCCCCACCCCAGCCCACCAACAGCTGTCTCCTACACACCTGGATGCGCTGCAGCACTGCAGGGCTCAGGATGTACATGCCTGCGTTGATCTTATTGGACACAAACACCTGTGGCTTCTCCACGAACCGGTGAATGCGGCCTGTGTCAGCCTCACACACCACCACACCGTACTTGGAGGGTTCCTCCACCTTGGTCACCTGAATGCAAGGAAGGGGACCTCGGACCTAGTCCAGTGTTCCTAAGCCTTGATACACATGCCGTTCCAGATCTCAAGAGACTCTGCCCCAAGTGCTTAAAGATACATACTGCACAGCTCTGTATCCATAACATCCGAAGGCAGATGAAGGCTAGGGGGCATGGGAGGCTGGGCATGGAGGGTGAAAGTGTCAAGAGAGAGAAGACCTGGCGCCTTACCAGGATGGAGCCCTCCTGGCCATGGTGCCGGTGGAACTGCACCATGGCTTGGAAGGGGAAATCGCAGATCACGTCACTGTTGAGGACGAAGAAAGGGTCTGCAGTCTCAGAGAGTAGGTCACGGGCCAGCGCCAGGGGCCCAGCTGGGGGAAGGGGACAGGTCACCACCTTGCTGGAGGTCTGAGTCCCTGGATTCAGGCTCAGCAGGCCCACTCCAGGCTGGGTCTTACCCTTTTCCTGGCCTTAAACCCTCCCCCAAGGGACCTTTCTGCCTCTACTGACCTGTCCCCAAAGGCTCCTCTTCATGGGACATGGAGATTCGGATTCCCAGCTGGAAGGAAGAGGCCCCCCCAGTCAGGTTCTACCAGGATGGGAAGTTGGGCGGGGACCGAGAATAAGGGCCAAGAGTCTGTGCCTCACCCTCTGCTCCTGTGCCTTCATTTCCTTCTCCAGCACCTGCGACATGTAGCTCACGGCCAGGATCACGTGGTCCACGCCTGCCTGTCAGAACGCAGGCCGACGGGCGGGCTCAGTCAGAAGGTACGGGAGCCCCTGACCCCTAGTCGCTGGCCATCCCTAGTCCCGCCAGATCCGAACGCGACTCTGATCCCGACCCAGGGTCTTACCGCGGCTAGCGCCTCCACTTGGTGCAGCAAGATGGGCTTATTGCAGAAGTCCACCAGTGGCTTCGGGGTGCTCAGCGTCAGCGGCCGTAGCCGCGTCCCATAGCCCCCCACTAAGATCAGTGCCTTCATCGCGCCTGCGGACGTTGAGGGGGTGTCCCGGGCTCTGAGGTGCCTGCAGCCCGCCTGGCCGGTCCCTGCCGCGCACTCCCAACGCCGTGCCCGGCCCCGCGCCCTTCACCAACCCGCCTGACAGACTCTGGCTCCACCTCGTCCGCCCGGTCGCCCTGACGCCGGATCCAGGGCCGCCACAACACAGAACGCGACACCGGGTAGACGGCTGCTGGCCCCGAACTCAGGCCGGACCCGGCGCGGGCAGTGACGCGACCACCGCGGGCCAATCGGCTGCCGCGTACGTGGCACGGCCGCCGGCGTCGGAACGTTGGAGCGCAGCGCTGCGACAGACGTAGCCAATGAGCGCCCGAGTACGCCGGGCTGCCATGGAGACCC
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TGAGCCTTCTTAAAGTGGTACCCCAGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAAGCCAAGGCAGGTGGATCACCTGAGGTCAGGAATTCGAGACCAGCCTGGCCAACCTGGTGAAACCCTGTCTCTACTAAAAATACAACAATTAGCCGGGCGTGGTGGTGGGCGTCTGCAATTCCAGCTACTCGGGAGGCTAAAGCAGGAGAATCACTTGAACCCGGGAGGTGGAGGTTGCAGTGAGCCGAGATCGTGCCATCGCACTCCAGCCTGGGCAACAGAGCGAGACTCGTCTCAAGAAAAAAAAAAAAAAAACAGGCTGTGTGGCACCTTACTAGAATACAGGACTTGGGGTTTGGGAAGCAGGGAGACGGAAAGGATGCAGGGGGGGTGATCATGTACGAGCCATGGCACTCCTCATTGGCAATCCCAAGAGAGACTTTTAGCCAGGCCCCAAGCCTTCTGACTGCCCTTGCACCCTCCCCTACCTAGGAGAGAGCAAGCCACATCAGTGCTCCTGGCAGATCCCTGCTTCCAGCTACGCTCAATATGCTATCTCCTGGGACAGCCAGAGCCCCCAGCACCTGGCACTGCTCTGCCAGCCCCTGACCGGAAGCGCTTCTCCCTGCAGAGCTGTGAGTGGGCTGGTGGGGCAGGTCAGGGAAATCTGGGGCTGGGTCGGGTCAGGAGCCTTAAGAACAGCAAAGTCCTAGGCTGGGAATATTCAAGAGGCATCACATCCTCAGCTACCTCTGACTTGACACTACCTACCACTCCCCAGATGCGGATTATATCAGTGCCGATGAGCTGGCCCAAGTGGAACAGATGCTGGCGCACCTGACCTCTGCATCTGCCCAGGCAGCAGCTGCCTCCCTGGTGAGTGGGAACACGGTGCACAGGTCCATGCCACTTGAATATGTGTGCACTCCTACACAGGCACAACGGACATCCACATAGCCAGGCATCCAACTCCAGCCCACCCTTCACTCTCCTCCCTGCAGCCCACCAGTGAGGAGGACCTCTGCCCCATCTGCTATGCCCACCCCATCTCTGCTGTGTTCCAGCCCTGTGGCCACAAGTCCTGCAAGTAAGTGGGCCCCACAGCTTGGTGGTGGGGAGAGCAGTAGGTACATGCAGGGCAGTCCTCATCCCCTCCCCTGTTGTAGAGCCTGTATCAACCAGCACCTGATGAACAACAAGGACTGCTTCTTCTGCAAAACCACCATCGTGTCTGTAGAGGACTGGGAGAAGGGAGCCAATACGAGTACTACCTCCTCAGCTGCCTAGCCCTCACAGCCTGTGCCATCCTGGAACCTCCACCTTTGAACCCAGAGCCAGGCTGGGCCCTATTTATGAGCTCCCTTTGCCCTTCTCCTGTATCCCACACCACCACATCCAACCTCCTTGCCTGCCTGTATCCTCATTGGTGGGAGCCCAGCCATGGCCCTAATTGTGCCTGAGCTTGACTTTCAGTCAGGGCCACAGTGAGCATTAAATTATTATTCCATACAGCCCTGGCCCTGGCCCTTCTTGAGGGAGTGGGGTTTGTGGGGTGTGCCCAGCAGGGATCCTGCCAGATGATGTCCACATGAGAAGGCAGGTGTCCAACAGCTTCAGCTTCACCCAGTGCCCCCCAGACAAATAATGACAAGTCCAGGGTCTTCTGATGTGTCAGGCCAGCACTCCCCTTGCTGATGGGAAAACCGGGGCTCGGCCAGCCCCACTGCATCCCCTCACATGATGATACGAGGCTCTGGCACTGACTCGCCAATAGACTTGTGGGGCAGCACGCTGGCTCCGTTGAGGTAGAGCTCATCATTAACTATGACGTCCTCACCCAGCACTGTCACGTTCTCCATGCGTACCTCCAGGAGAGGATAGGCCTTGTCAGGGAGGCAGGCACACTCCCCGCCCCTCTCCCCACCCAGCCCAGCCCACAGGCTTACCCACTGACCCACGCGGCAGCGCCAGCCCACAATGCAGGACTCAAGCCAGGAATGGGAACGGATCCGGGCATCCCGCAGCACCGTGCACCGCCAGATACACACACCATCTTCGACCACCACGCCAGGTCCCAGGCTCACATTGGGGCCAATGCTGCAGTTCTGGCCGATGCGGGCACTTGGGTCCTGAGAGCGGTGGGAAAAATACAAGTGGGCCACTTGTCTCCCAAGACTGAGGGGGTTAATGATGGGCTGGGCAAGGGCCTCACCACCAGCACGTTGCCCACAATGCCAGGGCCTGAGCACAGCCGCTCAGGCTGCTTCTGCCTCAGTGACTGCAGGAAGAGGCACATGCCAGTGAGGAAGTCCTTGGGCTGCCCAATGTCCATCCAGAAGCCTGTAGGGAGGGATGCATCAGGGGCCTCAGCCCAGCCACAGACCACCCCCACCCTGTGGCCTCCCTGCCTCACCCTGTAACTCCATGGCATATAGCTGCCCCTCCTTGGCCATAATGGGGAAGACCTCCTTCTCAATGGACGTAGGCTGCAGCTGTGGGAGTGGGCAGCTTGTGAGCAGGGTCATGGCGGTGATGGCCTGCCCCACCCCAGCCCACCAACAGCTGTCTCCTACACACCTGGATGCGCTGCAGCACTGCAGGGCTCAGGATGTACATGCCTGCGTTGATCTTATTGGACACAAACACCTGTGGCTTCTCCACGAACCGGTGAATGCGGCCTGTGTCAGCCTCACACACCACCACACCGTACTTGGAGGGTTCCTCCACCTTGGTCACCTGAATGCAAGGAAGGGGACCTCGGACCTAGTCCAGTGTTCCTAAGCCTTGATACACATGCCGTTCCAGATCTCAAGAGACTCTGCCCCAAGTGCTTAAAGATACATACTGCACAGCTCTGTATCCATAACATCCGAAGGCAGATGAAGGCTAGGGGGCATGGGAGGCTGGGCATGGAGGGTGAAAGTGTCAAGAGAGAGAAGACCTGGCGCCTTACCAGGATGGAGCCCTCCTGGCCATGGTGCCGGTGGAACTGCACCATGGCTTGGAAGGGGAAATCGCAGATCACGTCACTGTTGAGGACGAAGAAAGGGTCTGCAGTCTCAGAGAGTAGGTCACGGGCCAGCGCCAGGGGCCCAGCTGGGGGAAGGGGACAGGTCACCACCTTGCTGGAGGTCTGAGTCCCTGGATTCAGGCTCAGCAGGCCCACTCCAGGCTGGGTCTTACCCTTTTCCTGGCCTTAAACCCTCCCCCAAGGGACCTTTCTGCCTCTACTGACCTGTCCCCAAAGGCTCCTCTTCATGGGACATGGAGATTCGGATTCCCAGCTGGAAGGAAGAGGCCCCCCCAGTCAGGTTCTACCAGGATGGGAAGTTGGGCGGGGACCGAGAATAAGGGCCAAGAGTCTGTGCCTCACCCTCTGCTCCTGTGCCTTCATTTCCTTCTCCAGCACCTGCGACATGTAGCTCACGGCCAGGATCACGTGGTCCACGCCTGCCTGTCAGAACGCAGGCCGACGGGCGGGCTCAGTCAGAAGGTACGGGAGCCCCTGACCCCTAGTCGCTGGCCATCCCTAGTCCCGCCAGATCCGAACGCGACTCTGATCCCGACCCAGGGTCTTACCGCGGCTAGCGCCTCCACTTGGTGCAGCAAGATGGGCTTATTGCAGAAGTCCACCAGTGGCTTCGGGGTGCTCAGCGTCAGCGGCCGTAGCCGCGTCCCATAGCCCCCCACTAAGATCAGTGCCTTCATCGCGCCTGCGGACGTTGAGGGGGTGTCCCGGGCTCTGAGGTGCCTGCAGCCCGCCTGGCCGGTCCCTGCCGCGCACTCCCAACGCCGTGCCCGGCCCCGCGCCCTTCACCAACCCGCCTGACAGACTCTGGCTCCACCTCGTCCGCCCGGTCGCCCTGACGCCGGATCCAGGGCCGCCACAACACAGAACGCGACACCGGGTAGACGGCTGCTGGCCCCGAACTCAGGCCGGACCCGGCGCGGGCAGTGACGCGACCACCGCGGGCCAATCGGCTGCCGCGTACGTGGCACGGCCGCCGGCGTCGGAACGTTGGAGCGCAGCGCTGCGACAGACGTAGCCAATGAGCGCCCGAGTACGCCGGGCTGCCATGGAGACCC
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Task1_train_7029
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Consider a variant on Chromosome 3 in gene GMPPB (GDP-mannose pyrophosphorylase B). Determine its clinical classification and disease relevance.
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Pathogenic; Autosomal recessive limb-girdle muscular dystrophy type 2T
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CCACATAGCCAGGCATCCAACTCCAGCCCACCCTTCACTCTCCTCCCTGCAGCCCACCAGTGAGGAGGACCTCTGCCCCATCTGCTATGCCCACCCCATCTCTGCTGTGTTCCAGCCCTGTGGCCACAAGTCCTGCAAGTAAGTGGGCCCCACAGCTTGGTGGTGGGGAGAGCAGTAGGTACATGCAGGGCAGTCCTCATCCCCTCCCCTGTTGTAGAGCCTGTATCAACCAGCACCTGATGAACAACAAGGACTGCTTCTTCTGCAAAACCACCATCGTGTCTGTAGAGGACTGGGAGAAGGGAGCCAATACGAGTACTACCTCCTCAGCTGCCTAGCCCTCACAGCCTGTGCCATCCTGGAACCTCCACCTTTGAACCCAGAGCCAGGCTGGGCCCTATTTATGAGCTCCCTTTGCCCTTCTCCTGTATCCCACACCACCACATCCAACCTCCTTGCCTGCCTGTATCCTCATTGGTGGGAGCCCAGCCATGGCCCTAATTGTGCCTGAGCTTGACTTTCAGTCAGGGCCACAGTGAGCATTAAATTATTATTCCATACAGCCCTGGCCCTGGCCCTTCTTGAGGGAGTGGGGTTTGTGGGGTGTGCCCAGCAGGGATCCTGCCAGATGATGTCCACATGAGAAGGCAGGTGTCCAACAGCTTCAGCTTCACCCAGTGCCCCCCAGACAAATAATGACAAGTCCAGGGTCTTCTGATGTGTCAGGCCAGCACTCCCCTTGCTGATGGGAAAACCGGGGCTCGGCCAGCCCCACTGCATCCCCTCACATGATGATACGAGGCTCTGGCACTGACTCGCCAATAGACTTGTGGGGCAGCACGCTGGCTCCGTTGAGGTAGAGCTCATCATTAACTATGACGTCCTCACCCAGCACTGTCACGTTCTCCATGCGTACCTCCAGGAGAGGATAGGCCTTGTCAGGGAGGCAGGCACACTCCCCGCCCCTCTCCCCACCCAGCCCAGCCCACAGGCTTACCCACTGACCCACGCGGCAGCGCCAGCCCACAATGCAGGACTCAAGCCAGGAATGGGAACGGATCCGGGCATCCCGCAGCACCGTGCACCGCCGGATACACACACCATCTTCGACCACCACGCCAGGTCCCAGGCTCACATTGGGGCCAATGCTGCAGTTCTGGCCGATGCGGGCACTTGGGTCCTGAGAGCGGTGGGAAAAATACAAGTGGGCCACTTGTCTCCCAAGACTGAGGGGGTTAATGATGGGCTGGGCAAGGGCCTCACCACCAGCACGTTGCCCACAATGCCAGGGCCTGAGCACAGCCGCTCAGGCTGCTTCTGCCTCAGTGACTGCAGGAAGAGGCACATGCCAGTGAGGAAGTCCTTGGGCTGCCCAATGTCCATCCAGAAGCCTGTAGGGAGGGATGCATCAGGGGCCTCAGCCCAGCCACAGACCACCCCCACCCTGTGGCCTCCCTGCCTCACCCTGTAACTCCATGGCATATAGCTGCCCCTCCTTGGCCATAATGGGGAAGACCTCCTTCTCAATGGACGTAGGCTGCAGCTGTGGGAGTGGGCAGCTTGTGAGCAGGGTCATGGCGGTGATGGCCTGCCCCACCCCAGCCCACCAACAGCTGTCTCCTACACACCTGGATGCGCTGCAGCACTGCAGGGCTCAGGATGTACATGCCTGCGTTGATCTTATTGGACACAAACACCTGTGGCTTCTCCACGAACCGGTGAATGCGGCCTGTGTCAGCCTCACACACCACCACACCGTACTTGGAGGGTTCCTCCACCTTGGTCACCTGAATGCAAGGAAGGGGACCTCGGACCTAGTCCAGTGTTCCTAAGCCTTGATACACATGCCGTTCCAGATCTCAAGAGACTCTGCCCCAAGTGCTTAAAGATACATACTGCACAGCTCTGTATCCATAACATCCGAAGGCAGATGAAGGCTAGGGGGCATGGGAGGCTGGGCATGGAGGGTGAAAGTGTCAAGAGAGAGAAGACCTGGCGCCTTACCAGGATGGAGCCCTCCTGGCCATGGTGCCGGTGGAACTGCACCATGGCTTGGAAGGGGAAATCGCAGATCACGTCACTGTTGAGGACGAAGAAAGGGTCTGCAGTCTCAGAGAGTAGGTCACGGGCCAGCGCCAGGGGCCCAGCTGGGGGAAGGGGACAGGTCACCACCTTGCTGGAGGTCTGAGTCCCTGGATTCAGGCTCAGCAGGCCCACTCCAGGCTGGGTCTTACCCTTTTCCTGGCCTTAAACCCTCCCCCAAGGGACCTTTCTGCCTCTACTGACCTGTCCCCAAAGGCTCCTCTTCATGGGACATGGAGATTCGGATTCCCAGCTGGAAGGAAGAGGCCCCCCCAGTCAGGTTCTACCAGGATGGGAAGTTGGGCGGGGACCGAGAATAAGGGCCAAGAGTCTGTGCCTCACCCTCTGCTCCTGTGCCTTCATTTCCTTCTCCAGCACCTGCGACATGTAGCTCACGGCCAGGATCACGTGGTCCACGCCTGCCTGTCAGAACGCAGGCCGACGGGCGGGCTCAGTCAGAAGGTACGGGAGCCCCTGACCCCTAGTCGCTGGCCATCCCTAGTCCCGCCAGATCCGAACGCGACTCTGATCCCGACCCAGGGTCTTACCGCGGCTAGCGCCTCCACTTGGTGCAGCAAGATGGGCTTATTGCAGAAGTCCACCAGTGGCTTCGGGGTGCTCAGCGTCAGCGGCCGTAGCCGCGTCCCATAGCCCCCCACTAAGATCAGTGCCTTCATCGCGCCTGCGGACGTTGAGGGGGTGTCCCGGGCTCTGAGGTGCCTGCAGCCCGCCTGGCCGGTCCCTGCCGCGCACTCCCAACGCCGTGCCCGGCCCCGCGCCCTTCACCAACCCGCCTGACAGACTCTGGCTCCACCTCGTCCGCCCGGTCGCCCTGACGCCGGATCCAGGGCCGCCACAACACAGAACGCGACACCGGGTAGACGGCTGCTGGCCCCGAACTCAGGCCGGACCCGGCGCGGGCAGTGACGCGACCACCGCGGGCCAATCGGCTGCCGCGTACGTGGCACGGCCGCCGGCGTCGGAACGTTGGAGCGCAGCGCTGCGACAGACGTAGCCAATGAGCGCCCGAGTACGCCGGGCTGCCATGGAGACCCGGGCCGGGACCCGCGGGTCAGCTGGCCATTGGCGGATCCAAAGGCGGAACTGGCGCCAAGGGCGAGGCCTTGTTCCCTGCTTCGCCGCGGTCCAGCAGCCGCCGGCCCCGCCCCACGGCCCCGGCCTCGCCCCGAGGGTGACCAGGGAAGGCTCCCGGGCCACGGGATTTTCACAAAGACAGACTCGCCTCCGTTTCTAGCGGCTTTATTTTTGACATACACGACCTCAGACACAAGCGGGGCGGGCAGCGCTAGGTGTACAGAAAGGAGCGGGCTCGGACCGAGCACCCCCTCCCCCGCACGCAAGGTCCAAAGCAAACGCAACTGCGGCGGGAGCCACCGGCGCAGGCCTCGGGCGGTGGAGACAGGCTTAGCTTCCAGGAAAGAGCAGCAGAGAGCGATTCCCAGAACGCGAGGGCTTACAGTTCCCCGAGAAGCAAAAGAACCAGGTCCTTCCCAGGGTTCTCCATTATTTTTTCCTCATTAAAATATATTTTAAGTCAGCACAAACATAACCAAATTGTACAGCTTTAAAGTTCAAAGCAGTCTGCATCTAGGGAACGTGCATGTGGTCAGGAGTGAGCGCGTGAGCAGCGGCTACGTAACTAGCACAGGTGCCAGGCCCCTTGATGGGAATCCCCATGCTCACTGCACAGGCCCAGAGAGGGAGGGGTGGGGTCCCTGGCAAGTTGCTACACTGGTCCCCTTCCTCTTTTAAGCACCACCCGTCCCACCCCACCCTCAGGGGCTGGTGTCAGCTTGGCCCAGGGAAGCACTATAGAGAGGGCTCACCTGAGCACCCCAACCCATGATCCCATGTTGCACTTTGTTCCCAAGTTGGGGCTAAGAAGGCTGGGCCTGGCAGGGACAGGGCTCTCTGGCATGGGGCAGGGAGAAAGCAGTGGCAGACAGTATGCACACACACTTGCCCACTACCATTAAATAACAGGGCTGGGTCT
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CCACATAGCCAGGCATCCAACTCCAGCCCACCCTTCACTCTCCTCCCTGCAGCCCACCAGTGAGGAGGACCTCTGCCCCATCTGCTATGCCCACCCCATCTCTGCTGTGTTCCAGCCCTGTGGCCACAAGTCCTGCAAGTAAGTGGGCCCCACAGCTTGGTGGTGGGGAGAGCAGTAGGTACATGCAGGGCAGTCCTCATCCCCTCCCCTGTTGTAGAGCCTGTATCAACCAGCACCTGATGAACAACAAGGACTGCTTCTTCTGCAAAACCACCATCGTGTCTGTAGAGGACTGGGAGAAGGGAGCCAATACGAGTACTACCTCCTCAGCTGCCTAGCCCTCACAGCCTGTGCCATCCTGGAACCTCCACCTTTGAACCCAGAGCCAGGCTGGGCCCTATTTATGAGCTCCCTTTGCCCTTCTCCTGTATCCCACACCACCACATCCAACCTCCTTGCCTGCCTGTATCCTCATTGGTGGGAGCCCAGCCATGGCCCTAATTGTGCCTGAGCTTGACTTTCAGTCAGGGCCACAGTGAGCATTAAATTATTATTCCATACAGCCCTGGCCCTGGCCCTTCTTGAGGGAGTGGGGTTTGTGGGGTGTGCCCAGCAGGGATCCTGCCAGATGATGTCCACATGAGAAGGCAGGTGTCCAACAGCTTCAGCTTCACCCAGTGCCCCCCAGACAAATAATGACAAGTCCAGGGTCTTCTGATGTGTCAGGCCAGCACTCCCCTTGCTGATGGGAAAACCGGGGCTCGGCCAGCCCCACTGCATCCCCTCACATGATGATACGAGGCTCTGGCACTGACTCGCCAATAGACTTGTGGGGCAGCACGCTGGCTCCGTTGAGGTAGAGCTCATCATTAACTATGACGTCCTCACCCAGCACTGTCACGTTCTCCATGCGTACCTCCAGGAGAGGATAGGCCTTGTCAGGGAGGCAGGCACACTCCCCGCCCCTCTCCCCACCCAGCCCAGCCCACAGGCTTACCCACTGACCCACGCGGCAGCGCCAGCCCACAATGCAGGACTCAAGCCAGGAATGGGAACGGATCCGGGCATCCCGCAGCACCGTGCACCGCCGGATACACACACCATCTTCGACCACCACGCCAGGTCCCAGGCTCACATTGGGGCCAATGCTGCAGTTCTGGCCGATGCGGGCACTTGGGTCCTGAGAGCGGTGGGAAAAATACAAGTGGGCCACTTGTCTCCCAAGACTGAGGGGGTTAATGATGGGCTGGGCAAGGGCCTCACCACCAGCACGTTGCCCACAATGCCAGGGCCTGAGCACAGCCGCTCAGGCTGCTTCTGCCTCAGTGACTGCAGGAAGAGGCACATGCCAGTGAGGAAGTCCTTGGGCTGCCCAATGTCCATCCAGAAGCCTGTAGGGAGGGATGCATCAGGGGCCTCAGCCCAGCCACAGACCACCCCCACCCTGTGGCCTCCCTGCCTCACCCTGTAACTCCATGGCATATAGCTGCCCCTCCTTGGCCATAATGGGGAAGACCTCCTTCTCAATGGACGTAGGCTGCAGCTGTGGGAGTGGGCAGCTTGTGAGCAGGGTCATGGCGGTGATGGCCTGCCCCACCCCAGCCCACCAACAGCTGTCTCCTACACACCTGGATGCGCTGCAGCACTGCAGGGCTCAGGATGTACATGCCTGCGTTGATCTTATTGGACACAAACACCTGTGGCTTCTCCACGAACCGGTGAATGCGGCCTGTGTCAGCCTCACACACCACCACACCGTACTTGGAGGGTTCCTCCACCTTGGTCACCTGAATGCAAGGAAGGGGACCTCGGACCTAGTCCAGTGTTCCTAAGCCTTGATACACATGCCGTTCCAGATCTCAAGAGACTCTGCCCCAAGTGCTTAAAGATACATACTGCACAGCTCTGTATCCATAACATCCGAAGGCAGATGAAGGCTAGGGGGCATGGGAGGCTGGGCATGGAGGGTGAAAGTGTCAAGAGAGAGAAGACCTGGCGCCTTACCAGGATGGAGCCCTCCTGGCCATGGTGCCGGTGGAACTGCACCACGGCTTGGAAGGGGAAATCGCAGATCACGTCACTGTTGAGGACGAAGAAAGGGTCTGCAGTCTCAGAGAGTAGGTCACGGGCCAGCGCCAGGGGCCCAGCTGGGGGAAGGGGACAGGTCACCACCTTGCTGGAGGTCTGAGTCCCTGGATTCAGGCTCAGCAGGCCCACTCCAGGCTGGGTCTTACCCTTTTCCTGGCCTTAAACCCTCCCCCAAGGGACCTTTCTGCCTCTACTGACCTGTCCCCAAAGGCTCCTCTTCATGGGACATGGAGATTCGGATTCCCAGCTGGAAGGAAGAGGCCCCCCCAGTCAGGTTCTACCAGGATGGGAAGTTGGGCGGGGACCGAGAATAAGGGCCAAGAGTCTGTGCCTCACCCTCTGCTCCTGTGCCTTCATTTCCTTCTCCAGCACCTGCGACATGTAGCTCACGGCCAGGATCACGTGGTCCACGCCTGCCTGTCAGAACGCAGGCCGACGGGCGGGCTCAGTCAGAAGGTACGGGAGCCCCTGACCCCTAGTCGCTGGCCATCCCTAGTCCCGCCAGATCCGAACGCGACTCTGATCCCGACCCAGGGTCTTACCGCGGCTAGCGCCTCCACTTGGTGCAGCAAGATGGGCTTATTGCAGAAGTCCACCAGTGGCTTCGGGGTGCTCAGCGTCAGCGGCCGTAGCCGCGTCCCATAGCCCCCCACTAAGATCAGTGCCTTCATCGCGCCTGCGGACGTTGAGGGGGTGTCCCGGGCTCTGAGGTGCCTGCAGCCCGCCTGGCCGGTCCCTGCCGCGCACTCCCAACGCCGTGCCCGGCCCCGCGCCCTTCACCAACCCGCCTGACAGACTCTGGCTCCACCTCGTCCGCCCGGTCGCCCTGACGCCGGATCCAGGGCCGCCACAACACAGAACGCGACACCGGGTAGACGGCTGCTGGCCCCGAACTCAGGCCGGACCCGGCGCGGGCAGTGACGCGACCACCGCGGGCCAATCGGCTGCCGCGTACGTGGCACGGCCGCCGGCGTCGGAACGTTGGAGCGCAGCGCTGCGACAGACGTAGCCAATGAGCGCCCGAGTACGCCGGGCTGCCATGGAGACCCGGGCCGGGACCCGCGGGTCAGCTGGCCATTGGCGGATCCAAAGGCGGAACTGGCGCCAAGGGCGAGGCCTTGTTCCCTGCTTCGCCGCGGTCCAGCAGCCGCCGGCCCCGCCCCACGGCCCCGGCCTCGCCCCGAGGGTGACCAGGGAAGGCTCCCGGGCCACGGGATTTTCACAAAGACAGACTCGCCTCCGTTTCTAGCGGCTTTATTTTTGACATACACGACCTCAGACACAAGCGGGGCGGGCAGCGCTAGGTGTACAGAAAGGAGCGGGCTCGGACCGAGCACCCCCTCCCCCGCACGCAAGGTCCAAAGCAAACGCAACTGCGGCGGGAGCCACCGGCGCAGGCCTCGGGCGGTGGAGACAGGCTTAGCTTCCAGGAAAGAGCAGCAGAGAGCGATTCCCAGAACGCGAGGGCTTACAGTTCCCCGAGAAGCAAAAGAACCAGGTCCTTCCCAGGGTTCTCCATTATTTTTTCCTCATTAAAATATATTTTAAGTCAGCACAAACATAACCAAATTGTACAGCTTTAAAGTTCAAAGCAGTCTGCATCTAGGGAACGTGCATGTGGTCAGGAGTGAGCGCGTGAGCAGCGGCTACGTAACTAGCACAGGTGCCAGGCCCCTTGATGGGAATCCCCATGCTCACTGCACAGGCCCAGAGAGGGAGGGGTGGGGTCCCTGGCAAGTTGCTACACTGGTCCCCTTCCTCTTTTAAGCACCACCCGTCCCACCCCACCCTCAGGGGCTGGTGTCAGCTTGGCCCAGGGAAGCACTATAGAGAGGGCTCACCTGAGCACCCCAACCCATGATCCCATGTTGCACTTTGTTCCCAAGTTGGGGCTAAGAAGGCTGGGCCTGGCAGGGACAGGGCTCTCTGGCATGGGGCAGGGAGAAAGCAGTGGCAGACAGTATGCACACACACTTGCCCACTACCATTAAATAACAGGGCTGGGTCT
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Task1_train_7030
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Assess the clinical impact of this variant on gene GMPPB (GDP-mannose pyrophosphorylase B), found on Chromosome 3. State whether it’s pathogenic or benign, and the disease if applicable.
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Pathogenic; Autosomal recessive limb-girdle muscular dystrophy type 2T
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GGATCCTGCCAGATGATGTCCACATGAGAAGGCAGGTGTCCAACAGCTTCAGCTTCACCCAGTGCCCCCCAGACAAATAATGACAAGTCCAGGGTCTTCTGATGTGTCAGGCCAGCACTCCCCTTGCTGATGGGAAAACCGGGGCTCGGCCAGCCCCACTGCATCCCCTCACATGATGATACGAGGCTCTGGCACTGACTCGCCAATAGACTTGTGGGGCAGCACGCTGGCTCCGTTGAGGTAGAGCTCATCATTAACTATGACGTCCTCACCCAGCACTGTCACGTTCTCCATGCGTACCTCCAGGAGAGGATAGGCCTTGTCAGGGAGGCAGGCACACTCCCCGCCCCTCTCCCCACCCAGCCCAGCCCACAGGCTTACCCACTGACCCACGCGGCAGCGCCAGCCCACAATGCAGGACTCAAGCCAGGAATGGGAACGGATCCGGGCATCCCGCAGCACCGTGCACCGCCGGATACACACACCATCTTCGACCACCACGCCAGGTCCCAGGCTCACATTGGGGCCAATGCTGCAGTTCTGGCCGATGCGGGCACTTGGGTCCTGAGAGCGGTGGGAAAAATACAAGTGGGCCACTTGTCTCCCAAGACTGAGGGGGTTAATGATGGGCTGGGCAAGGGCCTCACCACCAGCACGTTGCCCACAATGCCAGGGCCTGAGCACAGCCGCTCAGGCTGCTTCTGCCTCAGTGACTGCAGGAAGAGGCACATGCCAGTGAGGAAGTCCTTGGGCTGCCCAATGTCCATCCAGAAGCCTGTAGGGAGGGATGCATCAGGGGCCTCAGCCCAGCCACAGACCACCCCCACCCTGTGGCCTCCCTGCCTCACCCTGTAACTCCATGGCATATAGCTGCCCCTCCTTGGCCATAATGGGGAAGACCTCCTTCTCAATGGACGTAGGCTGCAGCTGTGGGAGTGGGCAGCTTGTGAGCAGGGTCATGGCGGTGATGGCCTGCCCCACCCCAGCCCACCAACAGCTGTCTCCTACACACCTGGATGCGCTGCAGCACTGCAGGGCTCAGGATGTACATGCCTGCGTTGATCTTATTGGACACAAACACCTGTGGCTTCTCCACGAACCGGTGAATGCGGCCTGTGTCAGCCTCACACACCACCACACCGTACTTGGAGGGTTCCTCCACCTTGGTCACCTGAATGCAAGGAAGGGGACCTCGGACCTAGTCCAGTGTTCCTAAGCCTTGATACACATGCCGTTCCAGATCTCAAGAGACTCTGCCCCAAGTGCTTAAAGATACATACTGCACAGCTCTGTATCCATAACATCCGAAGGCAGATGAAGGCTAGGGGGCATGGGAGGCTGGGCATGGAGGGTGAAAGTGTCAAGAGAGAGAAGACCTGGCGCCTTACCAGGATGGAGCCCTCCTGGCCATGGTGCCGGTGGAACTGCACCATGGCTTGGAAGGGGAAATCGCAGATCACGTCACTGTTGAGGACGAAGAAAGGGTCTGCAGTCTCAGAGAGTAGGTCACGGGCCAGCGCCAGGGGCCCAGCTGGGGGAAGGGGACAGGTCACCACCTTGCTGGAGGTCTGAGTCCCTGGATTCAGGCTCAGCAGGCCCACTCCAGGCTGGGTCTTACCCTTTTCCTGGCCTTAAACCCTCCCCCAAGGGACCTTTCTGCCTCTACTGACCTGTCCCCAAAGGCTCCTCTTCATGGGACATGGAGATTCGGATTCCCAGCTGGAAGGAAGAGGCCCCCCCAGTCAGGTTCTACCAGGATGGGAAGTTGGGCGGGGACCGAGAATAAGGGCCAAGAGTCTGTGCCTCACCCTCTGCTCCTGTGCCTTCATTTCCTTCTCCAGCACCTGCGACATGTAGCTCACGGCCAGGATCACGTGGTCCACGCCTGCCTGTCAGAACGCAGGCCGACGGGCGGGCTCAGTCAGAAGGTACGGGAGCCCCTGACCCCTAGTCGCTGGCCATCCCTAGTCCCGCCAGATCCGAACGCGACTCTGATCCCGACCCAGGGTCTTACCGCGGCTAGCGCCTCCACTTGGTGCAGCAAGATGGGCTTATTGCAGAAGTCCACCAGTGGCTTCGGGGTGCTCAGCGTCAGCGGCCGTAGCCGCGTCCCATAGCCCCCCACTAAGATCAGTGCCTTCATCGCGCCTGCGGACGTTGAGGGGGTGTCCCGGGCTCTGAGGTGCCTGCAGCCCGCCTGGCCGGTCCCTGCCGCGCACTCCCAACGCCGTGCCCGGCCCCGCGCCCTTCACCAACCCGCCTGACAGACTCTGGCTCCACCTCGTCCGCCCGGTCGCCCTGACGCCGGATCCAGGGCCGCCACAACACAGAACGCGACACCGGGTAGACGGCTGCTGGCCCCGAACTCAGGCCGGACCCGGCGCGGGCAGTGACGCGACCACCGCGGGCCAATCGGCTGCCGCGTACGTGGCACGGCCGCCGGCGTCGGAACGTTGGAGCGCAGCGCTGCGACAGACGTAGCCAATGAGCGCCCGAGTACGCCGGGCTGCCATGGAGACCCGGGCCGGGACCCGCGGGTCAGCTGGCCATTGGCGGATCCAAAGGCGGAACTGGCGCCAAGGGCGAGGCCTTGTTCCCTGCTTCGCCGCGGTCCAGCAGCCGCCGGCCCCGCCCCACGGCCCCGGCCTCGCCCCGAGGGTGACCAGGGAAGGCTCCCGGGCCACGGGATTTTCACAAAGACAGACTCGCCTCCGTTTCTAGCGGCTTTATTTTTGACATACACGACCTCAGACACAAGCGGGGCGGGCAGCGCTAGGTGTACAGAAAGGAGCGGGCTCGGACCGAGCACCCCCTCCCCCGCACGCAAGGTCCAAAGCAAACGCAACTGCGGCGGGAGCCACCGGCGCAGGCCTCGGGCGGTGGAGACAGGCTTAGCTTCCAGGAAAGAGCAGCAGAGAGCGATTCCCAGAACGCGAGGGCTTACAGTTCCCCGAGAAGCAAAAGAACCAGGTCCTTCCCAGGGTTCTCCATTATTTTTTCCTCATTAAAATATATTTTAAGTCAGCACAAACATAACCAAATTGTACAGCTTTAAAGTTCAAAGCAGTCTGCATCTAGGGAACGTGCATGTGGTCAGGAGTGAGCGCGTGAGCAGCGGCTACGTAACTAGCACAGGTGCCAGGCCCCTTGATGGGAATCCCCATGCTCACTGCACAGGCCCAGAGAGGGAGGGGTGGGGTCCCTGGCAAGTTGCTACACTGGTCCCCTTCCTCTTTTAAGCACCACCCGTCCCACCCCACCCTCAGGGGCTGGTGTCAGCTTGGCCCAGGGAAGCACTATAGAGAGGGCTCACCTGAGCACCCCAACCCATGATCCCATGTTGCACTTTGTTCCCAAGTTGGGGCTAAGAAGGCTGGGCCTGGCAGGGACAGGGCTCTCTGGCATGGGGCAGGGAGAAAGCAGTGGCAGACAGTATGCACACACACTTGCCCACTACCATTAAATAACAGGGCTGGGTCTCCAGGTGTCCAAAGTGCTGAAAAGAGGGGCCCTGCTCTAAGGGAGCAGCAGCAAATCCCAGGCCTTCCCACTCTTTGTAGTGCCAGGAAAATACTGAATGTAAGTGGGTGCAGCTTTGCTCGCTGTGAGGAGCAGCAGAATGCGGCAGCCTCTCCTCCCAGAATCGAGGAATCTGGGAGGCACAGGACATCCCCAAAAGGTCCCAAACAGTTCCAGACCCTATGTCTTACCCTCCACCCTACCAGGGAATGACTATCTACACTAATGAAGGGCTACTGCCCCCATGGCTGAAGCCACAGAATGGTACAGGAGAGAAGACTGTAATTTGTGACCAGAAACAGGCAAGCTGTCCCTCCCAGCCCCAAAGAATGGGAACCTGCCCACCAGTGGCACCAGGGCTGGGGGCTAGGAGAGATGGCATCCATCAAGGAGCCCTTAAGAGGCTGCATCTTTAAGGACCAGGAAATGAGTCCATCAGTTACCAAGGCTTCTCACAGCTGGCAGGCTTACCTTTAAAGCCAAACAGGCACTTGCCTAAAGTGACAATGAACAGTGTGGCCCTAGGCTCAAAGGAGAGGGTGCTAACCTTGGCAATGGCTGAAATCGGTGTCACCTC
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GGATCCTGCCAGATGATGTCCACATGAGAAGGCAGGTGTCCAACAGCTTCAGCTTCACCCAGTGCCCCCCAGACAAATAATGACAAGTCCAGGGTCTTCTGATGTGTCAGGCCAGCACTCCCCTTGCTGATGGGAAAACCGGGGCTCGGCCAGCCCCACTGCATCCCCTCACATGATGATACGAGGCTCTGGCACTGACTCGCCAATAGACTTGTGGGGCAGCACGCTGGCTCCGTTGAGGTAGAGCTCATCATTAACTATGACGTCCTCACCCAGCACTGTCACGTTCTCCATGCGTACCTCCAGGAGAGGATAGGCCTTGTCAGGGAGGCAGGCACACTCCCCGCCCCTCTCCCCACCCAGCCCAGCCCACAGGCTTACCCACTGACCCACGCGGCAGCGCCAGCCCACAATGCAGGACTCAAGCCAGGAATGGGAACGGATCCGGGCATCCCGCAGCACCGTGCACCGCCGGATACACACACCATCTTCGACCACCACGCCAGGTCCCAGGCTCACATTGGGGCCAATGCTGCAGTTCTGGCCGATGCGGGCACTTGGGTCCTGAGAGCGGTGGGAAAAATACAAGTGGGCCACTTGTCTCCCAAGACTGAGGGGGTTAATGATGGGCTGGGCAAGGGCCTCACCACCAGCACGTTGCCCACAATGCCAGGGCCTGAGCACAGCCGCTCAGGCTGCTTCTGCCTCAGTGACTGCAGGAAGAGGCACATGCCAGTGAGGAAGTCCTTGGGCTGCCCAATGTCCATCCAGAAGCCTGTAGGGAGGGATGCATCAGGGGCCTCAGCCCAGCCACAGACCACCCCCACCCTGTGGCCTCCCTGCCTCACCCTGTAACTCCATGGCATATAGCTGCCCCTCCTTGGCCATAATGGGGAAGACCTCCTTCTCAATGGACGTAGGCTGCAGCTGTGGGAGTGGGCAGCTTGTGAGCAGGGTCATGGCGGTGATGGCCTGCCCCACCCCAGCCCACCAACAGCTGTCTCCTACACACCTGGATGCGCTGCAGCACTGCAGGGCTCAGGATGTACATGCCTGCGTTGATCTTATTGGACACAAACACCTGTGGCTTCTCCACGAACCGGTGAATGCGGCCTGTGTCAGCCTCACACACCACCACACCGTACTTGGAGGGTTCCTCCACCTTGGTCACCTGAATGCAAGGAAGGGGACCTCGGACCTAGTCCAGTGTTCCTAAGCCTTGATACACATGCCGTTCCAGATCTCAAGAGACTCTGCCCCAAGTGCTTAAAGATACATACTGCACAGCTCTGTATCCATAACATCCGAAGGCAGATGAAGGCTAGGGGGCATGGGAGGCTGGGCATGGAGGGTGAAAGTGTCAAGAGAGAGAAGACCTGGCGCCTTACCAGGATGGAGCCCTCCTGGCCATGGTGCCGGTGGAACTGCACCATGGCTTGGAAGGGGAAATCGCAGATCACGTCACTGTTGAGGACGAAGAAAGGGTCTGCAGTCTCAGAGAGTAGGTCACGGGCCAGCGCCAGGGGCCCAGCTGGGGGAAGGGGACAGGTCACCACCTTGCTGGAGGTCTGAGTCCCTGGATTCAGGCTCAGCAGGCCCACTCCAGGCTGGGTCTTACCCTTTTCCTGGCCTTAAACCCTCCCCCAAGGGACCTTTCTGCCTCTACTGACCTGTCCCCAAAGGCTCCTCTTCATGGGACATGGAGATTCGGATTCCCAGCTGGAAGGAAGAGGCCCCCCCAGTCAGGTTCTACCAGGATGGGAAGTTGGGCGGGGACCGAGAATAAGGGCCAAGAGTCTGTGCCTCACCCTCTGCTCCTGTGCCTTCATTTCCTTCTCCAGCACCTGCGACATGTAGCTCACGGCCAGGATCACGTGGTCCACGCCTGCCTGTCAGAACGCAGGCCGACGGGCGGGCTCAGTCAGAAGGTACGGGAGCCCCTGACCCCTAGTCGCTGGCCATCCCTAGTCCCGCCAGATCCGAACGCGACTCTGATCCCGACCCAGGGTCTTACCGCGGCTAGCGCCTCCACTTGGTGCAGCAAGATGAGCTTATTGCAGAAGTCCACCAGTGGCTTCGGGGTGCTCAGCGTCAGCGGCCGTAGCCGCGTCCCATAGCCCCCCACTAAGATCAGTGCCTTCATCGCGCCTGCGGACGTTGAGGGGGTGTCCCGGGCTCTGAGGTGCCTGCAGCCCGCCTGGCCGGTCCCTGCCGCGCACTCCCAACGCCGTGCCCGGCCCCGCGCCCTTCACCAACCCGCCTGACAGACTCTGGCTCCACCTCGTCCGCCCGGTCGCCCTGACGCCGGATCCAGGGCCGCCACAACACAGAACGCGACACCGGGTAGACGGCTGCTGGCCCCGAACTCAGGCCGGACCCGGCGCGGGCAGTGACGCGACCACCGCGGGCCAATCGGCTGCCGCGTACGTGGCACGGCCGCCGGCGTCGGAACGTTGGAGCGCAGCGCTGCGACAGACGTAGCCAATGAGCGCCCGAGTACGCCGGGCTGCCATGGAGACCCGGGCCGGGACCCGCGGGTCAGCTGGCCATTGGCGGATCCAAAGGCGGAACTGGCGCCAAGGGCGAGGCCTTGTTCCCTGCTTCGCCGCGGTCCAGCAGCCGCCGGCCCCGCCCCACGGCCCCGGCCTCGCCCCGAGGGTGACCAGGGAAGGCTCCCGGGCCACGGGATTTTCACAAAGACAGACTCGCCTCCGTTTCTAGCGGCTTTATTTTTGACATACACGACCTCAGACACAAGCGGGGCGGGCAGCGCTAGGTGTACAGAAAGGAGCGGGCTCGGACCGAGCACCCCCTCCCCCGCACGCAAGGTCCAAAGCAAACGCAACTGCGGCGGGAGCCACCGGCGCAGGCCTCGGGCGGTGGAGACAGGCTTAGCTTCCAGGAAAGAGCAGCAGAGAGCGATTCCCAGAACGCGAGGGCTTACAGTTCCCCGAGAAGCAAAAGAACCAGGTCCTTCCCAGGGTTCTCCATTATTTTTTCCTCATTAAAATATATTTTAAGTCAGCACAAACATAACCAAATTGTACAGCTTTAAAGTTCAAAGCAGTCTGCATCTAGGGAACGTGCATGTGGTCAGGAGTGAGCGCGTGAGCAGCGGCTACGTAACTAGCACAGGTGCCAGGCCCCTTGATGGGAATCCCCATGCTCACTGCACAGGCCCAGAGAGGGAGGGGTGGGGTCCCTGGCAAGTTGCTACACTGGTCCCCTTCCTCTTTTAAGCACCACCCGTCCCACCCCACCCTCAGGGGCTGGTGTCAGCTTGGCCCAGGGAAGCACTATAGAGAGGGCTCACCTGAGCACCCCAACCCATGATCCCATGTTGCACTTTGTTCCCAAGTTGGGGCTAAGAAGGCTGGGCCTGGCAGGGACAGGGCTCTCTGGCATGGGGCAGGGAGAAAGCAGTGGCAGACAGTATGCACACACACTTGCCCACTACCATTAAATAACAGGGCTGGGTCTCCAGGTGTCCAAAGTGCTGAAAAGAGGGGCCCTGCTCTAAGGGAGCAGCAGCAAATCCCAGGCCTTCCCACTCTTTGTAGTGCCAGGAAAATACTGAATGTAAGTGGGTGCAGCTTTGCTCGCTGTGAGGAGCAGCAGAATGCGGCAGCCTCTCCTCCCAGAATCGAGGAATCTGGGAGGCACAGGACATCCCCAAAAGGTCCCAAACAGTTCCAGACCCTATGTCTTACCCTCCACCCTACCAGGGAATGACTATCTACACTAATGAAGGGCTACTGCCCCCATGGCTGAAGCCACAGAATGGTACAGGAGAGAAGACTGTAATTTGTGACCAGAAACAGGCAAGCTGTCCCTCCCAGCCCCAAAGAATGGGAACCTGCCCACCAGTGGCACCAGGGCTGGGGGCTAGGAGAGATGGCATCCATCAAGGAGCCCTTAAGAGGCTGCATCTTTAAGGACCAGGAAATGAGTCCATCAGTTACCAAGGCTTCTCACAGCTGGCAGGCTTACCTTTAAAGCCAAACAGGCACTTGCCTAAAGTGACAATGAACAGTGTGGCCCTAGGCTCAAAGGAGAGGGTGCTAACCTTGGCAATGGCTGAAATCGGTGTCACCTC
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Task1_train_7031
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A mutation on Chromosome 3 affecting GMPPB (GDP-mannose pyrophosphorylase B) has been found. Is it harmful or harmless? What disease, if any, does it cause?
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Pathogenic; Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A14
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GGATCCTGCCAGATGATGTCCACATGAGAAGGCAGGTGTCCAACAGCTTCAGCTTCACCCAGTGCCCCCCAGACAAATAATGACAAGTCCAGGGTCTTCTGATGTGTCAGGCCAGCACTCCCCTTGCTGATGGGAAAACCGGGGCTCGGCCAGCCCCACTGCATCCCCTCACATGATGATACGAGGCTCTGGCACTGACTCGCCAATAGACTTGTGGGGCAGCACGCTGGCTCCGTTGAGGTAGAGCTCATCATTAACTATGACGTCCTCACCCAGCACTGTCACGTTCTCCATGCGTACCTCCAGGAGAGGATAGGCCTTGTCAGGGAGGCAGGCACACTCCCCGCCCCTCTCCCCACCCAGCCCAGCCCACAGGCTTACCCACTGACCCACGCGGCAGCGCCAGCCCACAATGCAGGACTCAAGCCAGGAATGGGAACGGATCCGGGCATCCCGCAGCACCGTGCACCGCCGGATACACACACCATCTTCGACCACCACGCCAGGTCCCAGGCTCACATTGGGGCCAATGCTGCAGTTCTGGCCGATGCGGGCACTTGGGTCCTGAGAGCGGTGGGAAAAATACAAGTGGGCCACTTGTCTCCCAAGACTGAGGGGGTTAATGATGGGCTGGGCAAGGGCCTCACCACCAGCACGTTGCCCACAATGCCAGGGCCTGAGCACAGCCGCTCAGGCTGCTTCTGCCTCAGTGACTGCAGGAAGAGGCACATGCCAGTGAGGAAGTCCTTGGGCTGCCCAATGTCCATCCAGAAGCCTGTAGGGAGGGATGCATCAGGGGCCTCAGCCCAGCCACAGACCACCCCCACCCTGTGGCCTCCCTGCCTCACCCTGTAACTCCATGGCATATAGCTGCCCCTCCTTGGCCATAATGGGGAAGACCTCCTTCTCAATGGACGTAGGCTGCAGCTGTGGGAGTGGGCAGCTTGTGAGCAGGGTCATGGCGGTGATGGCCTGCCCCACCCCAGCCCACCAACAGCTGTCTCCTACACACCTGGATGCGCTGCAGCACTGCAGGGCTCAGGATGTACATGCCTGCGTTGATCTTATTGGACACAAACACCTGTGGCTTCTCCACGAACCGGTGAATGCGGCCTGTGTCAGCCTCACACACCACCACACCGTACTTGGAGGGTTCCTCCACCTTGGTCACCTGAATGCAAGGAAGGGGACCTCGGACCTAGTCCAGTGTTCCTAAGCCTTGATACACATGCCGTTCCAGATCTCAAGAGACTCTGCCCCAAGTGCTTAAAGATACATACTGCACAGCTCTGTATCCATAACATCCGAAGGCAGATGAAGGCTAGGGGGCATGGGAGGCTGGGCATGGAGGGTGAAAGTGTCAAGAGAGAGAAGACCTGGCGCCTTACCAGGATGGAGCCCTCCTGGCCATGGTGCCGGTGGAACTGCACCATGGCTTGGAAGGGGAAATCGCAGATCACGTCACTGTTGAGGACGAAGAAAGGGTCTGCAGTCTCAGAGAGTAGGTCACGGGCCAGCGCCAGGGGCCCAGCTGGGGGAAGGGGACAGGTCACCACCTTGCTGGAGGTCTGAGTCCCTGGATTCAGGCTCAGCAGGCCCACTCCAGGCTGGGTCTTACCCTTTTCCTGGCCTTAAACCCTCCCCCAAGGGACCTTTCTGCCTCTACTGACCTGTCCCCAAAGGCTCCTCTTCATGGGACATGGAGATTCGGATTCCCAGCTGGAAGGAAGAGGCCCCCCCAGTCAGGTTCTACCAGGATGGGAAGTTGGGCGGGGACCGAGAATAAGGGCCAAGAGTCTGTGCCTCACCCTCTGCTCCTGTGCCTTCATTTCCTTCTCCAGCACCTGCGACATGTAGCTCACGGCCAGGATCACGTGGTCCACGCCTGCCTGTCAGAACGCAGGCCGACGGGCGGGCTCAGTCAGAAGGTACGGGAGCCCCTGACCCCTAGTCGCTGGCCATCCCTAGTCCCGCCAGATCCGAACGCGACTCTGATCCCGACCCAGGGTCTTACCGCGGCTAGCGCCTCCACTTGGTGCAGCAAGATGGGCTTATTGCAGAAGTCCACCAGTGGCTTCGGGGTGCTCAGCGTCAGCGGCCGTAGCCGCGTCCCATAGCCCCCCACTAAGATCAGTGCCTTCATCGCGCCTGCGGACGTTGAGGGGGTGTCCCGGGCTCTGAGGTGCCTGCAGCCCGCCTGGCCGGTCCCTGCCGCGCACTCCCAACGCCGTGCCCGGCCCCGCGCCCTTCACCAACCCGCCTGACAGACTCTGGCTCCACCTCGTCCGCCCGGTCGCCCTGACGCCGGATCCAGGGCCGCCACAACACAGAACGCGACACCGGGTAGACGGCTGCTGGCCCCGAACTCAGGCCGGACCCGGCGCGGGCAGTGACGCGACCACCGCGGGCCAATCGGCTGCCGCGTACGTGGCACGGCCGCCGGCGTCGGAACGTTGGAGCGCAGCGCTGCGACAGACGTAGCCAATGAGCGCCCGAGTACGCCGGGCTGCCATGGAGACCCGGGCCGGGACCCGCGGGTCAGCTGGCCATTGGCGGATCCAAAGGCGGAACTGGCGCCAAGGGCGAGGCCTTGTTCCCTGCTTCGCCGCGGTCCAGCAGCCGCCGGCCCCGCCCCACGGCCCCGGCCTCGCCCCGAGGGTGACCAGGGAAGGCTCCCGGGCCACGGGATTTTCACAAAGACAGACTCGCCTCCGTTTCTAGCGGCTTTATTTTTGACATACACGACCTCAGACACAAGCGGGGCGGGCAGCGCTAGGTGTACAGAAAGGAGCGGGCTCGGACCGAGCACCCCCTCCCCCGCACGCAAGGTCCAAAGCAAACGCAACTGCGGCGGGAGCCACCGGCGCAGGCCTCGGGCGGTGGAGACAGGCTTAGCTTCCAGGAAAGAGCAGCAGAGAGCGATTCCCAGAACGCGAGGGCTTACAGTTCCCCGAGAAGCAAAAGAACCAGGTCCTTCCCAGGGTTCTCCATTATTTTTTCCTCATTAAAATATATTTTAAGTCAGCACAAACATAACCAAATTGTACAGCTTTAAAGTTCAAAGCAGTCTGCATCTAGGGAACGTGCATGTGGTCAGGAGTGAGCGCGTGAGCAGCGGCTACGTAACTAGCACAGGTGCCAGGCCCCTTGATGGGAATCCCCATGCTCACTGCACAGGCCCAGAGAGGGAGGGGTGGGGTCCCTGGCAAGTTGCTACACTGGTCCCCTTCCTCTTTTAAGCACCACCCGTCCCACCCCACCCTCAGGGGCTGGTGTCAGCTTGGCCCAGGGAAGCACTATAGAGAGGGCTCACCTGAGCACCCCAACCCATGATCCCATGTTGCACTTTGTTCCCAAGTTGGGGCTAAGAAGGCTGGGCCTGGCAGGGACAGGGCTCTCTGGCATGGGGCAGGGAGAAAGCAGTGGCAGACAGTATGCACACACACTTGCCCACTACCATTAAATAACAGGGCTGGGTCTCCAGGTGTCCAAAGTGCTGAAAAGAGGGGCCCTGCTCTAAGGGAGCAGCAGCAAATCCCAGGCCTTCCCACTCTTTGTAGTGCCAGGAAAATACTGAATGTAAGTGGGTGCAGCTTTGCTCGCTGTGAGGAGCAGCAGAATGCGGCAGCCTCTCCTCCCAGAATCGAGGAATCTGGGAGGCACAGGACATCCCCAAAAGGTCCCAAACAGTTCCAGACCCTATGTCTTACCCTCCACCCTACCAGGGAATGACTATCTACACTAATGAAGGGCTACTGCCCCCATGGCTGAAGCCACAGAATGGTACAGGAGAGAAGACTGTAATTTGTGACCAGAAACAGGCAAGCTGTCCCTCCCAGCCCCAAAGAATGGGAACCTGCCCACCAGTGGCACCAGGGCTGGGGGCTAGGAGAGATGGCATCCATCAAGGAGCCCTTAAGAGGCTGCATCTTTAAGGACCAGGAAATGAGTCCATCAGTTACCAAGGCTTCTCACAGCTGGCAGGCTTACCTTTAAAGCCAAACAGGCACTTGCCTAAAGTGACAATGAACAGTGTGGCCCTAGGCTCAAAGGAGAGGGTGCTAACCTTGGCAATGGCTGAAATCGGTGTCACCTC
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GGATCCTGCCAGATGATGTCCACATGAGAAGGCAGGTGTCCAACAGCTTCAGCTTCACCCAGTGCCCCCCAGACAAATAATGACAAGTCCAGGGTCTTCTGATGTGTCAGGCCAGCACTCCCCTTGCTGATGGGAAAACCGGGGCTCGGCCAGCCCCACTGCATCCCCTCACATGATGATACGAGGCTCTGGCACTGACTCGCCAATAGACTTGTGGGGCAGCACGCTGGCTCCGTTGAGGTAGAGCTCATCATTAACTATGACGTCCTCACCCAGCACTGTCACGTTCTCCATGCGTACCTCCAGGAGAGGATAGGCCTTGTCAGGGAGGCAGGCACACTCCCCGCCCCTCTCCCCACCCAGCCCAGCCCACAGGCTTACCCACTGACCCACGCGGCAGCGCCAGCCCACAATGCAGGACTCAAGCCAGGAATGGGAACGGATCCGGGCATCCCGCAGCACCGTGCACCGCCGGATACACACACCATCTTCGACCACCACGCCAGGTCCCAGGCTCACATTGGGGCCAATGCTGCAGTTCTGGCCGATGCGGGCACTTGGGTCCTGAGAGCGGTGGGAAAAATACAAGTGGGCCACTTGTCTCCCAAGACTGAGGGGGTTAATGATGGGCTGGGCAAGGGCCTCACCACCAGCACGTTGCCCACAATGCCAGGGCCTGAGCACAGCCGCTCAGGCTGCTTCTGCCTCAGTGACTGCAGGAAGAGGCACATGCCAGTGAGGAAGTCCTTGGGCTGCCCAATGTCCATCCAGAAGCCTGTAGGGAGGGATGCATCAGGGGCCTCAGCCCAGCCACAGACCACCCCCACCCTGTGGCCTCCCTGCCTCACCCTGTAACTCCATGGCATATAGCTGCCCCTCCTTGGCCATAATGGGGAAGACCTCCTTCTCAATGGACGTAGGCTGCAGCTGTGGGAGTGGGCAGCTTGTGAGCAGGGTCATGGCGGTGATGGCCTGCCCCACCCCAGCCCACCAACAGCTGTCTCCTACACACCTGGATGCGCTGCAGCACTGCAGGGCTCAGGATGTACATGCCTGCGTTGATCTTATTGGACACAAACACCTGTGGCTTCTCCACGAACCGGTGAATGCGGCCTGTGTCAGCCTCACACACCACCACACCGTACTTGGAGGGTTCCTCCACCTTGGTCACCTGAATGCAAGGAAGGGGACCTCGGACCTAGTCCAGTGTTCCTAAGCCTTGATACACATGCCGTTCCAGATCTCAAGAGACTCTGCCCCAAGTGCTTAAAGATACATACTGCACAGCTCTGTATCCATAACATCCGAAGGCAGATGAAGGCTAGGGGGCATGGGAGGCTGGGCATGGAGGGTGAAAGTGTCAAGAGAGAGAAGACCTGGCGCCTTACCAGGATGGAGCCCTCCTGGCCATGGTGCCGGTGGAACTGCACCATGGCTTGGAAGGGGAAATCGCAGATCACGTCACTGTTGAGGACGAAGAAAGGGTCTGCAGTCTCAGAGAGTAGGTCACGGGCCAGCGCCAGGGGCCCAGCTGGGGGAAGGGGACAGGTCACCACCTTGCTGGAGGTCTGAGTCCCTGGATTCAGGCTCAGCAGGCCCACTCCAGGCTGGGTCTTACCCTTTTCCTGGCCTTAAACCCTCCCCCAAGGGACCTTTCTGCCTCTACTGACCTGTCCCCAAAGGCTCCTCTTCATGGGACATGGAGATTCGGATTCCCAGCTGGAAGGAAGAGGCCCCCCCAGTCAGGTTCTACCAGGATGGGAAGTTGGGCGGGGACCGAGAATAAGGGCCAAGAGTCTGTGCCTCACCCTCTGCTCCTGTGCCTTCATTTCCTTCTCCAGCACCTGCGACATGTAGCTCACGGCCAGGATCACGTGGTCCACGCCTGCCTGTCAGAACGCAGGCCGACGGGCGGGCTCAGTCAGAAGGTACGGGAGCCCCTGACCCCTAGTCGCTGGCCATCCCTAGTCCCGCCAGATCCGAACGCGACTCTGATCCCGACCCAGGGTCTTACCGCGGCTAGCGCCTCCACTTGGTGCAGCAAGATGAGCTTATTGCAGAAGTCCACCAGTGGCTTCGGGGTGCTCAGCGTCAGCGGCCGTAGCCGCGTCCCATAGCCCCCCACTAAGATCAGTGCCTTCATCGCGCCTGCGGACGTTGAGGGGGTGTCCCGGGCTCTGAGGTGCCTGCAGCCCGCCTGGCCGGTCCCTGCCGCGCACTCCCAACGCCGTGCCCGGCCCCGCGCCCTTCACCAACCCGCCTGACAGACTCTGGCTCCACCTCGTCCGCCCGGTCGCCCTGACGCCGGATCCAGGGCCGCCACAACACAGAACGCGACACCGGGTAGACGGCTGCTGGCCCCGAACTCAGGCCGGACCCGGCGCGGGCAGTGACGCGACCACCGCGGGCCAATCGGCTGCCGCGTACGTGGCACGGCCGCCGGCGTCGGAACGTTGGAGCGCAGCGCTGCGACAGACGTAGCCAATGAGCGCCCGAGTACGCCGGGCTGCCATGGAGACCCGGGCCGGGACCCGCGGGTCAGCTGGCCATTGGCGGATCCAAAGGCGGAACTGGCGCCAAGGGCGAGGCCTTGTTCCCTGCTTCGCCGCGGTCCAGCAGCCGCCGGCCCCGCCCCACGGCCCCGGCCTCGCCCCGAGGGTGACCAGGGAAGGCTCCCGGGCCACGGGATTTTCACAAAGACAGACTCGCCTCCGTTTCTAGCGGCTTTATTTTTGACATACACGACCTCAGACACAAGCGGGGCGGGCAGCGCTAGGTGTACAGAAAGGAGCGGGCTCGGACCGAGCACCCCCTCCCCCGCACGCAAGGTCCAAAGCAAACGCAACTGCGGCGGGAGCCACCGGCGCAGGCCTCGGGCGGTGGAGACAGGCTTAGCTTCCAGGAAAGAGCAGCAGAGAGCGATTCCCAGAACGCGAGGGCTTACAGTTCCCCGAGAAGCAAAAGAACCAGGTCCTTCCCAGGGTTCTCCATTATTTTTTCCTCATTAAAATATATTTTAAGTCAGCACAAACATAACCAAATTGTACAGCTTTAAAGTTCAAAGCAGTCTGCATCTAGGGAACGTGCATGTGGTCAGGAGTGAGCGCGTGAGCAGCGGCTACGTAACTAGCACAGGTGCCAGGCCCCTTGATGGGAATCCCCATGCTCACTGCACAGGCCCAGAGAGGGAGGGGTGGGGTCCCTGGCAAGTTGCTACACTGGTCCCCTTCCTCTTTTAAGCACCACCCGTCCCACCCCACCCTCAGGGGCTGGTGTCAGCTTGGCCCAGGGAAGCACTATAGAGAGGGCTCACCTGAGCACCCCAACCCATGATCCCATGTTGCACTTTGTTCCCAAGTTGGGGCTAAGAAGGCTGGGCCTGGCAGGGACAGGGCTCTCTGGCATGGGGCAGGGAGAAAGCAGTGGCAGACAGTATGCACACACACTTGCCCACTACCATTAAATAACAGGGCTGGGTCTCCAGGTGTCCAAAGTGCTGAAAAGAGGGGCCCTGCTCTAAGGGAGCAGCAGCAAATCCCAGGCCTTCCCACTCTTTGTAGTGCCAGGAAAATACTGAATGTAAGTGGGTGCAGCTTTGCTCGCTGTGAGGAGCAGCAGAATGCGGCAGCCTCTCCTCCCAGAATCGAGGAATCTGGGAGGCACAGGACATCCCCAAAAGGTCCCAAACAGTTCCAGACCCTATGTCTTACCCTCCACCCTACCAGGGAATGACTATCTACACTAATGAAGGGCTACTGCCCCCATGGCTGAAGCCACAGAATGGTACAGGAGAGAAGACTGTAATTTGTGACCAGAAACAGGCAAGCTGTCCCTCCCAGCCCCAAAGAATGGGAACCTGCCCACCAGTGGCACCAGGGCTGGGGGCTAGGAGAGATGGCATCCATCAAGGAGCCCTTAAGAGGCTGCATCTTTAAGGACCAGGAAATGAGTCCATCAGTTACCAAGGCTTCTCACAGCTGGCAGGCTTACCTTTAAAGCCAAACAGGCACTTGCCTAAAGTGACAATGAACAGTGTGGCCCTAGGCTCAAAGGAGAGGGTGCTAACCTTGGCAATGGCTGAAATCGGTGTCACCTC
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Task1_train_7032
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The following genetic variant occurs in GMPPB (GDP-mannose pyrophosphorylase B) on Chromosome 3. Classify its clinical effect — pathogenic or benign — and list any associated condition.
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Pathogenic; Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B14
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GGATCCTGCCAGATGATGTCCACATGAGAAGGCAGGTGTCCAACAGCTTCAGCTTCACCCAGTGCCCCCCAGACAAATAATGACAAGTCCAGGGTCTTCTGATGTGTCAGGCCAGCACTCCCCTTGCTGATGGGAAAACCGGGGCTCGGCCAGCCCCACTGCATCCCCTCACATGATGATACGAGGCTCTGGCACTGACTCGCCAATAGACTTGTGGGGCAGCACGCTGGCTCCGTTGAGGTAGAGCTCATCATTAACTATGACGTCCTCACCCAGCACTGTCACGTTCTCCATGCGTACCTCCAGGAGAGGATAGGCCTTGTCAGGGAGGCAGGCACACTCCCCGCCCCTCTCCCCACCCAGCCCAGCCCACAGGCTTACCCACTGACCCACGCGGCAGCGCCAGCCCACAATGCAGGACTCAAGCCAGGAATGGGAACGGATCCGGGCATCCCGCAGCACCGTGCACCGCCGGATACACACACCATCTTCGACCACCACGCCAGGTCCCAGGCTCACATTGGGGCCAATGCTGCAGTTCTGGCCGATGCGGGCACTTGGGTCCTGAGAGCGGTGGGAAAAATACAAGTGGGCCACTTGTCTCCCAAGACTGAGGGGGTTAATGATGGGCTGGGCAAGGGCCTCACCACCAGCACGTTGCCCACAATGCCAGGGCCTGAGCACAGCCGCTCAGGCTGCTTCTGCCTCAGTGACTGCAGGAAGAGGCACATGCCAGTGAGGAAGTCCTTGGGCTGCCCAATGTCCATCCAGAAGCCTGTAGGGAGGGATGCATCAGGGGCCTCAGCCCAGCCACAGACCACCCCCACCCTGTGGCCTCCCTGCCTCACCCTGTAACTCCATGGCATATAGCTGCCCCTCCTTGGCCATAATGGGGAAGACCTCCTTCTCAATGGACGTAGGCTGCAGCTGTGGGAGTGGGCAGCTTGTGAGCAGGGTCATGGCGGTGATGGCCTGCCCCACCCCAGCCCACCAACAGCTGTCTCCTACACACCTGGATGCGCTGCAGCACTGCAGGGCTCAGGATGTACATGCCTGCGTTGATCTTATTGGACACAAACACCTGTGGCTTCTCCACGAACCGGTGAATGCGGCCTGTGTCAGCCTCACACACCACCACACCGTACTTGGAGGGTTCCTCCACCTTGGTCACCTGAATGCAAGGAAGGGGACCTCGGACCTAGTCCAGTGTTCCTAAGCCTTGATACACATGCCGTTCCAGATCTCAAGAGACTCTGCCCCAAGTGCTTAAAGATACATACTGCACAGCTCTGTATCCATAACATCCGAAGGCAGATGAAGGCTAGGGGGCATGGGAGGCTGGGCATGGAGGGTGAAAGTGTCAAGAGAGAGAAGACCTGGCGCCTTACCAGGATGGAGCCCTCCTGGCCATGGTGCCGGTGGAACTGCACCATGGCTTGGAAGGGGAAATCGCAGATCACGTCACTGTTGAGGACGAAGAAAGGGTCTGCAGTCTCAGAGAGTAGGTCACGGGCCAGCGCCAGGGGCCCAGCTGGGGGAAGGGGACAGGTCACCACCTTGCTGGAGGTCTGAGTCCCTGGATTCAGGCTCAGCAGGCCCACTCCAGGCTGGGTCTTACCCTTTTCCTGGCCTTAAACCCTCCCCCAAGGGACCTTTCTGCCTCTACTGACCTGTCCCCAAAGGCTCCTCTTCATGGGACATGGAGATTCGGATTCCCAGCTGGAAGGAAGAGGCCCCCCCAGTCAGGTTCTACCAGGATGGGAAGTTGGGCGGGGACCGAGAATAAGGGCCAAGAGTCTGTGCCTCACCCTCTGCTCCTGTGCCTTCATTTCCTTCTCCAGCACCTGCGACATGTAGCTCACGGCCAGGATCACGTGGTCCACGCCTGCCTGTCAGAACGCAGGCCGACGGGCGGGCTCAGTCAGAAGGTACGGGAGCCCCTGACCCCTAGTCGCTGGCCATCCCTAGTCCCGCCAGATCCGAACGCGACTCTGATCCCGACCCAGGGTCTTACCGCGGCTAGCGCCTCCACTTGGTGCAGCAAGATGGGCTTATTGCAGAAGTCCACCAGTGGCTTCGGGGTGCTCAGCGTCAGCGGCCGTAGCCGCGTCCCATAGCCCCCCACTAAGATCAGTGCCTTCATCGCGCCTGCGGACGTTGAGGGGGTGTCCCGGGCTCTGAGGTGCCTGCAGCCCGCCTGGCCGGTCCCTGCCGCGCACTCCCAACGCCGTGCCCGGCCCCGCGCCCTTCACCAACCCGCCTGACAGACTCTGGCTCCACCTCGTCCGCCCGGTCGCCCTGACGCCGGATCCAGGGCCGCCACAACACAGAACGCGACACCGGGTAGACGGCTGCTGGCCCCGAACTCAGGCCGGACCCGGCGCGGGCAGTGACGCGACCACCGCGGGCCAATCGGCTGCCGCGTACGTGGCACGGCCGCCGGCGTCGGAACGTTGGAGCGCAGCGCTGCGACAGACGTAGCCAATGAGCGCCCGAGTACGCCGGGCTGCCATGGAGACCCGGGCCGGGACCCGCGGGTCAGCTGGCCATTGGCGGATCCAAAGGCGGAACTGGCGCCAAGGGCGAGGCCTTGTTCCCTGCTTCGCCGCGGTCCAGCAGCCGCCGGCCCCGCCCCACGGCCCCGGCCTCGCCCCGAGGGTGACCAGGGAAGGCTCCCGGGCCACGGGATTTTCACAAAGACAGACTCGCCTCCGTTTCTAGCGGCTTTATTTTTGACATACACGACCTCAGACACAAGCGGGGCGGGCAGCGCTAGGTGTACAGAAAGGAGCGGGCTCGGACCGAGCACCCCCTCCCCCGCACGCAAGGTCCAAAGCAAACGCAACTGCGGCGGGAGCCACCGGCGCAGGCCTCGGGCGGTGGAGACAGGCTTAGCTTCCAGGAAAGAGCAGCAGAGAGCGATTCCCAGAACGCGAGGGCTTACAGTTCCCCGAGAAGCAAAAGAACCAGGTCCTTCCCAGGGTTCTCCATTATTTTTTCCTCATTAAAATATATTTTAAGTCAGCACAAACATAACCAAATTGTACAGCTTTAAAGTTCAAAGCAGTCTGCATCTAGGGAACGTGCATGTGGTCAGGAGTGAGCGCGTGAGCAGCGGCTACGTAACTAGCACAGGTGCCAGGCCCCTTGATGGGAATCCCCATGCTCACTGCACAGGCCCAGAGAGGGAGGGGTGGGGTCCCTGGCAAGTTGCTACACTGGTCCCCTTCCTCTTTTAAGCACCACCCGTCCCACCCCACCCTCAGGGGCTGGTGTCAGCTTGGCCCAGGGAAGCACTATAGAGAGGGCTCACCTGAGCACCCCAACCCATGATCCCATGTTGCACTTTGTTCCCAAGTTGGGGCTAAGAAGGCTGGGCCTGGCAGGGACAGGGCTCTCTGGCATGGGGCAGGGAGAAAGCAGTGGCAGACAGTATGCACACACACTTGCCCACTACCATTAAATAACAGGGCTGGGTCTCCAGGTGTCCAAAGTGCTGAAAAGAGGGGCCCTGCTCTAAGGGAGCAGCAGCAAATCCCAGGCCTTCCCACTCTTTGTAGTGCCAGGAAAATACTGAATGTAAGTGGGTGCAGCTTTGCTCGCTGTGAGGAGCAGCAGAATGCGGCAGCCTCTCCTCCCAGAATCGAGGAATCTGGGAGGCACAGGACATCCCCAAAAGGTCCCAAACAGTTCCAGACCCTATGTCTTACCCTCCACCCTACCAGGGAATGACTATCTACACTAATGAAGGGCTACTGCCCCCATGGCTGAAGCCACAGAATGGTACAGGAGAGAAGACTGTAATTTGTGACCAGAAACAGGCAAGCTGTCCCTCCCAGCCCCAAAGAATGGGAACCTGCCCACCAGTGGCACCAGGGCTGGGGGCTAGGAGAGATGGCATCCATCAAGGAGCCCTTAAGAGGCTGCATCTTTAAGGACCAGGAAATGAGTCCATCAGTTACCAAGGCTTCTCACAGCTGGCAGGCTTACCTTTAAAGCCAAACAGGCACTTGCCTAAAGTGACAATGAACAGTGTGGCCCTAGGCTCAAAGGAGAGGGTGCTAACCTTGGCAATGGCTGAAATCGGTGTCACCTC
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GGATCCTGCCAGATGATGTCCACATGAGAAGGCAGGTGTCCAACAGCTTCAGCTTCACCCAGTGCCCCCCAGACAAATAATGACAAGTCCAGGGTCTTCTGATGTGTCAGGCCAGCACTCCCCTTGCTGATGGGAAAACCGGGGCTCGGCCAGCCCCACTGCATCCCCTCACATGATGATACGAGGCTCTGGCACTGACTCGCCAATAGACTTGTGGGGCAGCACGCTGGCTCCGTTGAGGTAGAGCTCATCATTAACTATGACGTCCTCACCCAGCACTGTCACGTTCTCCATGCGTACCTCCAGGAGAGGATAGGCCTTGTCAGGGAGGCAGGCACACTCCCCGCCCCTCTCCCCACCCAGCCCAGCCCACAGGCTTACCCACTGACCCACGCGGCAGCGCCAGCCCACAATGCAGGACTCAAGCCAGGAATGGGAACGGATCCGGGCATCCCGCAGCACCGTGCACCGCCGGATACACACACCATCTTCGACCACCACGCCAGGTCCCAGGCTCACATTGGGGCCAATGCTGCAGTTCTGGCCGATGCGGGCACTTGGGTCCTGAGAGCGGTGGGAAAAATACAAGTGGGCCACTTGTCTCCCAAGACTGAGGGGGTTAATGATGGGCTGGGCAAGGGCCTCACCACCAGCACGTTGCCCACAATGCCAGGGCCTGAGCACAGCCGCTCAGGCTGCTTCTGCCTCAGTGACTGCAGGAAGAGGCACATGCCAGTGAGGAAGTCCTTGGGCTGCCCAATGTCCATCCAGAAGCCTGTAGGGAGGGATGCATCAGGGGCCTCAGCCCAGCCACAGACCACCCCCACCCTGTGGCCTCCCTGCCTCACCCTGTAACTCCATGGCATATAGCTGCCCCTCCTTGGCCATAATGGGGAAGACCTCCTTCTCAATGGACGTAGGCTGCAGCTGTGGGAGTGGGCAGCTTGTGAGCAGGGTCATGGCGGTGATGGCCTGCCCCACCCCAGCCCACCAACAGCTGTCTCCTACACACCTGGATGCGCTGCAGCACTGCAGGGCTCAGGATGTACATGCCTGCGTTGATCTTATTGGACACAAACACCTGTGGCTTCTCCACGAACCGGTGAATGCGGCCTGTGTCAGCCTCACACACCACCACACCGTACTTGGAGGGTTCCTCCACCTTGGTCACCTGAATGCAAGGAAGGGGACCTCGGACCTAGTCCAGTGTTCCTAAGCCTTGATACACATGCCGTTCCAGATCTCAAGAGACTCTGCCCCAAGTGCTTAAAGATACATACTGCACAGCTCTGTATCCATAACATCCGAAGGCAGATGAAGGCTAGGGGGCATGGGAGGCTGGGCATGGAGGGTGAAAGTGTCAAGAGAGAGAAGACCTGGCGCCTTACCAGGATGGAGCCCTCCTGGCCATGGTGCCGGTGGAACTGCACCATGGCTTGGAAGGGGAAATCGCAGATCACGTCACTGTTGAGGACGAAGAAAGGGTCTGCAGTCTCAGAGAGTAGGTCACGGGCCAGCGCCAGGGGCCCAGCTGGGGGAAGGGGACAGGTCACCACCTTGCTGGAGGTCTGAGTCCCTGGATTCAGGCTCAGCAGGCCCACTCCAGGCTGGGTCTTACCCTTTTCCTGGCCTTAAACCCTCCCCCAAGGGACCTTTCTGCCTCTACTGACCTGTCCCCAAAGGCTCCTCTTCATGGGACATGGAGATTCGGATTCCCAGCTGGAAGGAAGAGGCCCCCCCAGTCAGGTTCTACCAGGATGGGAAGTTGGGCGGGGACCGAGAATAAGGGCCAAGAGTCTGTGCCTCACCCTCTGCTCCTGTGCCTTCATTTCCTTCTCCAGCACCTGCGACATGTAGCTCACGGCCAGGATCACGTGGTCCACGCCTGCCTGTCAGAACGCAGGCCGACGGGCGGGCTCAGTCAGAAGGTACGGGAGCCCCTGACCCCTAGTCGCTGGCCATCCCTAGTCCCGCCAGATCCGAACGCGACTCTGATCCCGACCCAGGGTCTTACCGCGGCTAGCGCCTCCACTTGGTGCAGCAAGATGAGCTTATTGCAGAAGTCCACCAGTGGCTTCGGGGTGCTCAGCGTCAGCGGCCGTAGCCGCGTCCCATAGCCCCCCACTAAGATCAGTGCCTTCATCGCGCCTGCGGACGTTGAGGGGGTGTCCCGGGCTCTGAGGTGCCTGCAGCCCGCCTGGCCGGTCCCTGCCGCGCACTCCCAACGCCGTGCCCGGCCCCGCGCCCTTCACCAACCCGCCTGACAGACTCTGGCTCCACCTCGTCCGCCCGGTCGCCCTGACGCCGGATCCAGGGCCGCCACAACACAGAACGCGACACCGGGTAGACGGCTGCTGGCCCCGAACTCAGGCCGGACCCGGCGCGGGCAGTGACGCGACCACCGCGGGCCAATCGGCTGCCGCGTACGTGGCACGGCCGCCGGCGTCGGAACGTTGGAGCGCAGCGCTGCGACAGACGTAGCCAATGAGCGCCCGAGTACGCCGGGCTGCCATGGAGACCCGGGCCGGGACCCGCGGGTCAGCTGGCCATTGGCGGATCCAAAGGCGGAACTGGCGCCAAGGGCGAGGCCTTGTTCCCTGCTTCGCCGCGGTCCAGCAGCCGCCGGCCCCGCCCCACGGCCCCGGCCTCGCCCCGAGGGTGACCAGGGAAGGCTCCCGGGCCACGGGATTTTCACAAAGACAGACTCGCCTCCGTTTCTAGCGGCTTTATTTTTGACATACACGACCTCAGACACAAGCGGGGCGGGCAGCGCTAGGTGTACAGAAAGGAGCGGGCTCGGACCGAGCACCCCCTCCCCCGCACGCAAGGTCCAAAGCAAACGCAACTGCGGCGGGAGCCACCGGCGCAGGCCTCGGGCGGTGGAGACAGGCTTAGCTTCCAGGAAAGAGCAGCAGAGAGCGATTCCCAGAACGCGAGGGCTTACAGTTCCCCGAGAAGCAAAAGAACCAGGTCCTTCCCAGGGTTCTCCATTATTTTTTCCTCATTAAAATATATTTTAAGTCAGCACAAACATAACCAAATTGTACAGCTTTAAAGTTCAAAGCAGTCTGCATCTAGGGAACGTGCATGTGGTCAGGAGTGAGCGCGTGAGCAGCGGCTACGTAACTAGCACAGGTGCCAGGCCCCTTGATGGGAATCCCCATGCTCACTGCACAGGCCCAGAGAGGGAGGGGTGGGGTCCCTGGCAAGTTGCTACACTGGTCCCCTTCCTCTTTTAAGCACCACCCGTCCCACCCCACCCTCAGGGGCTGGTGTCAGCTTGGCCCAGGGAAGCACTATAGAGAGGGCTCACCTGAGCACCCCAACCCATGATCCCATGTTGCACTTTGTTCCCAAGTTGGGGCTAAGAAGGCTGGGCCTGGCAGGGACAGGGCTCTCTGGCATGGGGCAGGGAGAAAGCAGTGGCAGACAGTATGCACACACACTTGCCCACTACCATTAAATAACAGGGCTGGGTCTCCAGGTGTCCAAAGTGCTGAAAAGAGGGGCCCTGCTCTAAGGGAGCAGCAGCAAATCCCAGGCCTTCCCACTCTTTGTAGTGCCAGGAAAATACTGAATGTAAGTGGGTGCAGCTTTGCTCGCTGTGAGGAGCAGCAGAATGCGGCAGCCTCTCCTCCCAGAATCGAGGAATCTGGGAGGCACAGGACATCCCCAAAAGGTCCCAAACAGTTCCAGACCCTATGTCTTACCCTCCACCCTACCAGGGAATGACTATCTACACTAATGAAGGGCTACTGCCCCCATGGCTGAAGCCACAGAATGGTACAGGAGAGAAGACTGTAATTTGTGACCAGAAACAGGCAAGCTGTCCCTCCCAGCCCCAAAGAATGGGAACCTGCCCACCAGTGGCACCAGGGCTGGGGGCTAGGAGAGATGGCATCCATCAAGGAGCCCTTAAGAGGCTGCATCTTTAAGGACCAGGAAATGAGTCCATCAGTTACCAAGGCTTCTCACAGCTGGCAGGCTTACCTTTAAAGCCAAACAGGCACTTGCCTAAAGTGACAATGAACAGTGTGGCCCTAGGCTCAAAGGAGAGGGTGCTAACCTTGGCAATGGCTGAAATCGGTGTCACCTC
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Task1_train_7033
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A mutation in GMPPB (GDP-mannose pyrophosphorylase B), located on Chromosome 3, is being studied. Determine whether it’s pathogenic or benign, and specify the linked disease.
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Pathogenic; Autosomal recessive limb-girdle muscular dystrophy type 2T
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GGATCCTGCCAGATGATGTCCACATGAGAAGGCAGGTGTCCAACAGCTTCAGCTTCACCCAGTGCCCCCCAGACAAATAATGACAAGTCCAGGGTCTTCTGATGTGTCAGGCCAGCACTCCCCTTGCTGATGGGAAAACCGGGGCTCGGCCAGCCCCACTGCATCCCCTCACATGATGATACGAGGCTCTGGCACTGACTCGCCAATAGACTTGTGGGGCAGCACGCTGGCTCCGTTGAGGTAGAGCTCATCATTAACTATGACGTCCTCACCCAGCACTGTCACGTTCTCCATGCGTACCTCCAGGAGAGGATAGGCCTTGTCAGGGAGGCAGGCACACTCCCCGCCCCTCTCCCCACCCAGCCCAGCCCACAGGCTTACCCACTGACCCACGCGGCAGCGCCAGCCCACAATGCAGGACTCAAGCCAGGAATGGGAACGGATCCGGGCATCCCGCAGCACCGTGCACCGCCGGATACACACACCATCTTCGACCACCACGCCAGGTCCCAGGCTCACATTGGGGCCAATGCTGCAGTTCTGGCCGATGCGGGCACTTGGGTCCTGAGAGCGGTGGGAAAAATACAAGTGGGCCACTTGTCTCCCAAGACTGAGGGGGTTAATGATGGGCTGGGCAAGGGCCTCACCACCAGCACGTTGCCCACAATGCCAGGGCCTGAGCACAGCCGCTCAGGCTGCTTCTGCCTCAGTGACTGCAGGAAGAGGCACATGCCAGTGAGGAAGTCCTTGGGCTGCCCAATGTCCATCCAGAAGCCTGTAGGGAGGGATGCATCAGGGGCCTCAGCCCAGCCACAGACCACCCCCACCCTGTGGCCTCCCTGCCTCACCCTGTAACTCCATGGCATATAGCTGCCCCTCCTTGGCCATAATGGGGAAGACCTCCTTCTCAATGGACGTAGGCTGCAGCTGTGGGAGTGGGCAGCTTGTGAGCAGGGTCATGGCGGTGATGGCCTGCCCCACCCCAGCCCACCAACAGCTGTCTCCTACACACCTGGATGCGCTGCAGCACTGCAGGGCTCAGGATGTACATGCCTGCGTTGATCTTATTGGACACAAACACCTGTGGCTTCTCCACGAACCGGTGAATGCGGCCTGTGTCAGCCTCACACACCACCACACCGTACTTGGAGGGTTCCTCCACCTTGGTCACCTGAATGCAAGGAAGGGGACCTCGGACCTAGTCCAGTGTTCCTAAGCCTTGATACACATGCCGTTCCAGATCTCAAGAGACTCTGCCCCAAGTGCTTAAAGATACATACTGCACAGCTCTGTATCCATAACATCCGAAGGCAGATGAAGGCTAGGGGGCATGGGAGGCTGGGCATGGAGGGTGAAAGTGTCAAGAGAGAGAAGACCTGGCGCCTTACCAGGATGGAGCCCTCCTGGCCATGGTGCCGGTGGAACTGCACCATGGCTTGGAAGGGGAAATCGCAGATCACGTCACTGTTGAGGACGAAGAAAGGGTCTGCAGTCTCAGAGAGTAGGTCACGGGCCAGCGCCAGGGGCCCAGCTGGGGGAAGGGGACAGGTCACCACCTTGCTGGAGGTCTGAGTCCCTGGATTCAGGCTCAGCAGGCCCACTCCAGGCTGGGTCTTACCCTTTTCCTGGCCTTAAACCCTCCCCCAAGGGACCTTTCTGCCTCTACTGACCTGTCCCCAAAGGCTCCTCTTCATGGGACATGGAGATTCGGATTCCCAGCTGGAAGGAAGAGGCCCCCCCAGTCAGGTTCTACCAGGATGGGAAGTTGGGCGGGGACCGAGAATAAGGGCCAAGAGTCTGTGCCTCACCCTCTGCTCCTGTGCCTTCATTTCCTTCTCCAGCACCTGCGACATGTAGCTCACGGCCAGGATCACGTGGTCCACGCCTGCCTGTCAGAACGCAGGCCGACGGGCGGGCTCAGTCAGAAGGTACGGGAGCCCCTGACCCCTAGTCGCTGGCCATCCCTAGTCCCGCCAGATCCGAACGCGACTCTGATCCCGACCCAGGGTCTTACCGCGGCTAGCGCCTCCACTTGGTGCAGCAAGATGGGCTTATTGCAGAAGTCCACCAGTGGCTTCGGGGTGCTCAGCGTCAGCGGCCGTAGCCGCGTCCCATAGCCCCCCACTAAGATCAGTGCCTTCATCGCGCCTGCGGACGTTGAGGGGGTGTCCCGGGCTCTGAGGTGCCTGCAGCCCGCCTGGCCGGTCCCTGCCGCGCACTCCCAACGCCGTGCCCGGCCCCGCGCCCTTCACCAACCCGCCTGACAGACTCTGGCTCCACCTCGTCCGCCCGGTCGCCCTGACGCCGGATCCAGGGCCGCCACAACACAGAACGCGACACCGGGTAGACGGCTGCTGGCCCCGAACTCAGGCCGGACCCGGCGCGGGCAGTGACGCGACCACCGCGGGCCAATCGGCTGCCGCGTACGTGGCACGGCCGCCGGCGTCGGAACGTTGGAGCGCAGCGCTGCGACAGACGTAGCCAATGAGCGCCCGAGTACGCCGGGCTGCCATGGAGACCCGGGCCGGGACCCGCGGGTCAGCTGGCCATTGGCGGATCCAAAGGCGGAACTGGCGCCAAGGGCGAGGCCTTGTTCCCTGCTTCGCCGCGGTCCAGCAGCCGCCGGCCCCGCCCCACGGCCCCGGCCTCGCCCCGAGGGTGACCAGGGAAGGCTCCCGGGCCACGGGATTTTCACAAAGACAGACTCGCCTCCGTTTCTAGCGGCTTTATTTTTGACATACACGACCTCAGACACAAGCGGGGCGGGCAGCGCTAGGTGTACAGAAAGGAGCGGGCTCGGACCGAGCACCCCCTCCCCCGCACGCAAGGTCCAAAGCAAACGCAACTGCGGCGGGAGCCACCGGCGCAGGCCTCGGGCGGTGGAGACAGGCTTAGCTTCCAGGAAAGAGCAGCAGAGAGCGATTCCCAGAACGCGAGGGCTTACAGTTCCCCGAGAAGCAAAAGAACCAGGTCCTTCCCAGGGTTCTCCATTATTTTTTCCTCATTAAAATATATTTTAAGTCAGCACAAACATAACCAAATTGTACAGCTTTAAAGTTCAAAGCAGTCTGCATCTAGGGAACGTGCATGTGGTCAGGAGTGAGCGCGTGAGCAGCGGCTACGTAACTAGCACAGGTGCCAGGCCCCTTGATGGGAATCCCCATGCTCACTGCACAGGCCCAGAGAGGGAGGGGTGGGGTCCCTGGCAAGTTGCTACACTGGTCCCCTTCCTCTTTTAAGCACCACCCGTCCCACCCCACCCTCAGGGGCTGGTGTCAGCTTGGCCCAGGGAAGCACTATAGAGAGGGCTCACCTGAGCACCCCAACCCATGATCCCATGTTGCACTTTGTTCCCAAGTTGGGGCTAAGAAGGCTGGGCCTGGCAGGGACAGGGCTCTCTGGCATGGGGCAGGGAGAAAGCAGTGGCAGACAGTATGCACACACACTTGCCCACTACCATTAAATAACAGGGCTGGGTCTCCAGGTGTCCAAAGTGCTGAAAAGAGGGGCCCTGCTCTAAGGGAGCAGCAGCAAATCCCAGGCCTTCCCACTCTTTGTAGTGCCAGGAAAATACTGAATGTAAGTGGGTGCAGCTTTGCTCGCTGTGAGGAGCAGCAGAATGCGGCAGCCTCTCCTCCCAGAATCGAGGAATCTGGGAGGCACAGGACATCCCCAAAAGGTCCCAAACAGTTCCAGACCCTATGTCTTACCCTCCACCCTACCAGGGAATGACTATCTACACTAATGAAGGGCTACTGCCCCCATGGCTGAAGCCACAGAATGGTACAGGAGAGAAGACTGTAATTTGTGACCAGAAACAGGCAAGCTGTCCCTCCCAGCCCCAAAGAATGGGAACCTGCCCACCAGTGGCACCAGGGCTGGGGGCTAGGAGAGATGGCATCCATCAAGGAGCCCTTAAGAGGCTGCATCTTTAAGGACCAGGAAATGAGTCCATCAGTTACCAAGGCTTCTCACAGCTGGCAGGCTTACCTTTAAAGCCAAACAGGCACTTGCCTAAAGTGACAATGAACAGTGTGGCCCTAGGCTCAAAGGAGAGGGTGCTAACCTTGGCAATGGCTGAAATCGGTGTCACCTC
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GGATCCTGCCAGATGATGTCCACATGAGAAGGCAGGTGTCCAACAGCTTCAGCTTCACCCAGTGCCCCCCAGACAAATAATGACAAGTCCAGGGTCTTCTGATGTGTCAGGCCAGCACTCCCCTTGCTGATGGGAAAACCGGGGCTCGGCCAGCCCCACTGCATCCCCTCACATGATGATACGAGGCTCTGGCACTGACTCGCCAATAGACTTGTGGGGCAGCACGCTGGCTCCGTTGAGGTAGAGCTCATCATTAACTATGACGTCCTCACCCAGCACTGTCACGTTCTCCATGCGTACCTCCAGGAGAGGATAGGCCTTGTCAGGGAGGCAGGCACACTCCCCGCCCCTCTCCCCACCCAGCCCAGCCCACAGGCTTACCCACTGACCCACGCGGCAGCGCCAGCCCACAATGCAGGACTCAAGCCAGGAATGGGAACGGATCCGGGCATCCCGCAGCACCGTGCACCGCCGGATACACACACCATCTTCGACCACCACGCCAGGTCCCAGGCTCACATTGGGGCCAATGCTGCAGTTCTGGCCGATGCGGGCACTTGGGTCCTGAGAGCGGTGGGAAAAATACAAGTGGGCCACTTGTCTCCCAAGACTGAGGGGGTTAATGATGGGCTGGGCAAGGGCCTCACCACCAGCACGTTGCCCACAATGCCAGGGCCTGAGCACAGCCGCTCAGGCTGCTTCTGCCTCAGTGACTGCAGGAAGAGGCACATGCCAGTGAGGAAGTCCTTGGGCTGCCCAATGTCCATCCAGAAGCCTGTAGGGAGGGATGCATCAGGGGCCTCAGCCCAGCCACAGACCACCCCCACCCTGTGGCCTCCCTGCCTCACCCTGTAACTCCATGGCATATAGCTGCCCCTCCTTGGCCATAATGGGGAAGACCTCCTTCTCAATGGACGTAGGCTGCAGCTGTGGGAGTGGGCAGCTTGTGAGCAGGGTCATGGCGGTGATGGCCTGCCCCACCCCAGCCCACCAACAGCTGTCTCCTACACACCTGGATGCGCTGCAGCACTGCAGGGCTCAGGATGTACATGCCTGCGTTGATCTTATTGGACACAAACACCTGTGGCTTCTCCACGAACCGGTGAATGCGGCCTGTGTCAGCCTCACACACCACCACACCGTACTTGGAGGGTTCCTCCACCTTGGTCACCTGAATGCAAGGAAGGGGACCTCGGACCTAGTCCAGTGTTCCTAAGCCTTGATACACATGCCGTTCCAGATCTCAAGAGACTCTGCCCCAAGTGCTTAAAGATACATACTGCACAGCTCTGTATCCATAACATCCGAAGGCAGATGAAGGCTAGGGGGCATGGGAGGCTGGGCATGGAGGGTGAAAGTGTCAAGAGAGAGAAGACCTGGCGCCTTACCAGGATGGAGCCCTCCTGGCCATGGTGCCGGTGGAACTGCACCATGGCTTGGAAGGGGAAATCGCAGATCACGTCACTGTTGAGGACGAAGAAAGGGTCTGCAGTCTCAGAGAGTAGGTCACGGGCCAGCGCCAGGGGCCCAGCTGGGGGAAGGGGACAGGTCACCACCTTGCTGGAGGTCTGAGTCCCTGGATTCAGGCTCAGCAGGCCCACTCCAGGCTGGGTCTTACCCTTTTCCTGGCCTTAAACCCTCCCCCAAGGGACCTTTCTGCCTCTACTGACCTGTCCCCAAAGGCTCCTCTTCATGGGACATGGAGATTCGGATTCCCAGCTGGAAGGAAGAGGCCCCCCCAGTCAGGTTCTACCAGGATGGGAAGTTGGGCGGGGACCGAGAATAAGGGCCAAGAGTCTGTGCCTCACCCTCTGCTCCTGTGCCTTCATTTCCTTCTCCAGCACCTGCGACATGTAGCTCACGGCCAGGATCACGTGGTCCACGCCTGCCTGTCAGAACGCAGGCCGACGGGCGGGCTCAGTCAGAAGGTACGGGAGCCCCTGACCCCTAGTCGCTGGCCATCCCTAGTCCCGCCAGATCCGAACGCGACTCTGATCCCGACCCAGGGTCTTACCGCGGCTAGCGCCTCCACTTGGTGCAGCAAGATGAGCTTATTGCAGAAGTCCACCAGTGGCTTCGGGGTGCTCAGCGTCAGCGGCCGTAGCCGCGTCCCATAGCCCCCCACTAAGATCAGTGCCTTCATCGCGCCTGCGGACGTTGAGGGGGTGTCCCGGGCTCTGAGGTGCCTGCAGCCCGCCTGGCCGGTCCCTGCCGCGCACTCCCAACGCCGTGCCCGGCCCCGCGCCCTTCACCAACCCGCCTGACAGACTCTGGCTCCACCTCGTCCGCCCGGTCGCCCTGACGCCGGATCCAGGGCCGCCACAACACAGAACGCGACACCGGGTAGACGGCTGCTGGCCCCGAACTCAGGCCGGACCCGGCGCGGGCAGTGACGCGACCACCGCGGGCCAATCGGCTGCCGCGTACGTGGCACGGCCGCCGGCGTCGGAACGTTGGAGCGCAGCGCTGCGACAGACGTAGCCAATGAGCGCCCGAGTACGCCGGGCTGCCATGGAGACCCGGGCCGGGACCCGCGGGTCAGCTGGCCATTGGCGGATCCAAAGGCGGAACTGGCGCCAAGGGCGAGGCCTTGTTCCCTGCTTCGCCGCGGTCCAGCAGCCGCCGGCCCCGCCCCACGGCCCCGGCCTCGCCCCGAGGGTGACCAGGGAAGGCTCCCGGGCCACGGGATTTTCACAAAGACAGACTCGCCTCCGTTTCTAGCGGCTTTATTTTTGACATACACGACCTCAGACACAAGCGGGGCGGGCAGCGCTAGGTGTACAGAAAGGAGCGGGCTCGGACCGAGCACCCCCTCCCCCGCACGCAAGGTCCAAAGCAAACGCAACTGCGGCGGGAGCCACCGGCGCAGGCCTCGGGCGGTGGAGACAGGCTTAGCTTCCAGGAAAGAGCAGCAGAGAGCGATTCCCAGAACGCGAGGGCTTACAGTTCCCCGAGAAGCAAAAGAACCAGGTCCTTCCCAGGGTTCTCCATTATTTTTTCCTCATTAAAATATATTTTAAGTCAGCACAAACATAACCAAATTGTACAGCTTTAAAGTTCAAAGCAGTCTGCATCTAGGGAACGTGCATGTGGTCAGGAGTGAGCGCGTGAGCAGCGGCTACGTAACTAGCACAGGTGCCAGGCCCCTTGATGGGAATCCCCATGCTCACTGCACAGGCCCAGAGAGGGAGGGGTGGGGTCCCTGGCAAGTTGCTACACTGGTCCCCTTCCTCTTTTAAGCACCACCCGTCCCACCCCACCCTCAGGGGCTGGTGTCAGCTTGGCCCAGGGAAGCACTATAGAGAGGGCTCACCTGAGCACCCCAACCCATGATCCCATGTTGCACTTTGTTCCCAAGTTGGGGCTAAGAAGGCTGGGCCTGGCAGGGACAGGGCTCTCTGGCATGGGGCAGGGAGAAAGCAGTGGCAGACAGTATGCACACACACTTGCCCACTACCATTAAATAACAGGGCTGGGTCTCCAGGTGTCCAAAGTGCTGAAAAGAGGGGCCCTGCTCTAAGGGAGCAGCAGCAAATCCCAGGCCTTCCCACTCTTTGTAGTGCCAGGAAAATACTGAATGTAAGTGGGTGCAGCTTTGCTCGCTGTGAGGAGCAGCAGAATGCGGCAGCCTCTCCTCCCAGAATCGAGGAATCTGGGAGGCACAGGACATCCCCAAAAGGTCCCAAACAGTTCCAGACCCTATGTCTTACCCTCCACCCTACCAGGGAATGACTATCTACACTAATGAAGGGCTACTGCCCCCATGGCTGAAGCCACAGAATGGTACAGGAGAGAAGACTGTAATTTGTGACCAGAAACAGGCAAGCTGTCCCTCCCAGCCCCAAAGAATGGGAACCTGCCCACCAGTGGCACCAGGGCTGGGGGCTAGGAGAGATGGCATCCATCAAGGAGCCCTTAAGAGGCTGCATCTTTAAGGACCAGGAAATGAGTCCATCAGTTACCAAGGCTTCTCACAGCTGGCAGGCTTACCTTTAAAGCCAAACAGGCACTTGCCTAAAGTGACAATGAACAGTGTGGCCCTAGGCTCAAAGGAGAGGGTGCTAACCTTGGCAATGGCTGAAATCGGTGTCACCTC
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Task1_train_7034
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A variant affecting Chromosome 3, within the gene GMPPB (GDP-mannose pyrophosphorylase B), has been observed. Determine if it's benign or associated with disease.
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Pathogenic; Autosomal recessive limb-girdle muscular dystrophy type 2T
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GCAGGTGTCCAACAGCTTCAGCTTCACCCAGTGCCCCCCAGACAAATAATGACAAGTCCAGGGTCTTCTGATGTGTCAGGCCAGCACTCCCCTTGCTGATGGGAAAACCGGGGCTCGGCCAGCCCCACTGCATCCCCTCACATGATGATACGAGGCTCTGGCACTGACTCGCCAATAGACTTGTGGGGCAGCACGCTGGCTCCGTTGAGGTAGAGCTCATCATTAACTATGACGTCCTCACCCAGCACTGTCACGTTCTCCATGCGTACCTCCAGGAGAGGATAGGCCTTGTCAGGGAGGCAGGCACACTCCCCGCCCCTCTCCCCACCCAGCCCAGCCCACAGGCTTACCCACTGACCCACGCGGCAGCGCCAGCCCACAATGCAGGACTCAAGCCAGGAATGGGAACGGATCCGGGCATCCCGCAGCACCGTGCACCGCCGGATACACACACCATCTTCGACCACCACGCCAGGTCCCAGGCTCACATTGGGGCCAATGCTGCAGTTCTGGCCGATGCGGGCACTTGGGTCCTGAGAGCGGTGGGAAAAATACAAGTGGGCCACTTGTCTCCCAAGACTGAGGGGGTTAATGATGGGCTGGGCAAGGGCCTCACCACCAGCACGTTGCCCACAATGCCAGGGCCTGAGCACAGCCGCTCAGGCTGCTTCTGCCTCAGTGACTGCAGGAAGAGGCACATGCCAGTGAGGAAGTCCTTGGGCTGCCCAATGTCCATCCAGAAGCCTGTAGGGAGGGATGCATCAGGGGCCTCAGCCCAGCCACAGACCACCCCCACCCTGTGGCCTCCCTGCCTCACCCTGTAACTCCATGGCATATAGCTGCCCCTCCTTGGCCATAATGGGGAAGACCTCCTTCTCAATGGACGTAGGCTGCAGCTGTGGGAGTGGGCAGCTTGTGAGCAGGGTCATGGCGGTGATGGCCTGCCCCACCCCAGCCCACCAACAGCTGTCTCCTACACACCTGGATGCGCTGCAGCACTGCAGGGCTCAGGATGTACATGCCTGCGTTGATCTTATTGGACACAAACACCTGTGGCTTCTCCACGAACCGGTGAATGCGGCCTGTGTCAGCCTCACACACCACCACACCGTACTTGGAGGGTTCCTCCACCTTGGTCACCTGAATGCAAGGAAGGGGACCTCGGACCTAGTCCAGTGTTCCTAAGCCTTGATACACATGCCGTTCCAGATCTCAAGAGACTCTGCCCCAAGTGCTTAAAGATACATACTGCACAGCTCTGTATCCATAACATCCGAAGGCAGATGAAGGCTAGGGGGCATGGGAGGCTGGGCATGGAGGGTGAAAGTGTCAAGAGAGAGAAGACCTGGCGCCTTACCAGGATGGAGCCCTCCTGGCCATGGTGCCGGTGGAACTGCACCATGGCTTGGAAGGGGAAATCGCAGATCACGTCACTGTTGAGGACGAAGAAAGGGTCTGCAGTCTCAGAGAGTAGGTCACGGGCCAGCGCCAGGGGCCCAGCTGGGGGAAGGGGACAGGTCACCACCTTGCTGGAGGTCTGAGTCCCTGGATTCAGGCTCAGCAGGCCCACTCCAGGCTGGGTCTTACCCTTTTCCTGGCCTTAAACCCTCCCCCAAGGGACCTTTCTGCCTCTACTGACCTGTCCCCAAAGGCTCCTCTTCATGGGACATGGAGATTCGGATTCCCAGCTGGAAGGAAGAGGCCCCCCCAGTCAGGTTCTACCAGGATGGGAAGTTGGGCGGGGACCGAGAATAAGGGCCAAGAGTCTGTGCCTCACCCTCTGCTCCTGTGCCTTCATTTCCTTCTCCAGCACCTGCGACATGTAGCTCACGGCCAGGATCACGTGGTCCACGCCTGCCTGTCAGAACGCAGGCCGACGGGCGGGCTCAGTCAGAAGGTACGGGAGCCCCTGACCCCTAGTCGCTGGCCATCCCTAGTCCCGCCAGATCCGAACGCGACTCTGATCCCGACCCAGGGTCTTACCGCGGCTAGCGCCTCCACTTGGTGCAGCAAGATGGGCTTATTGCAGAAGTCCACCAGTGGCTTCGGGGTGCTCAGCGTCAGCGGCCGTAGCCGCGTCCCATAGCCCCCCACTAAGATCAGTGCCTTCATCGCGCCTGCGGACGTTGAGGGGGTGTCCCGGGCTCTGAGGTGCCTGCAGCCCGCCTGGCCGGTCCCTGCCGCGCACTCCCAACGCCGTGCCCGGCCCCGCGCCCTTCACCAACCCGCCTGACAGACTCTGGCTCCACCTCGTCCGCCCGGTCGCCCTGACGCCGGATCCAGGGCCGCCACAACACAGAACGCGACACCGGGTAGACGGCTGCTGGCCCCGAACTCAGGCCGGACCCGGCGCGGGCAGTGACGCGACCACCGCGGGCCAATCGGCTGCCGCGTACGTGGCACGGCCGCCGGCGTCGGAACGTTGGAGCGCAGCGCTGCGACAGACGTAGCCAATGAGCGCCCGAGTACGCCGGGCTGCCATGGAGACCCGGGCCGGGACCCGCGGGTCAGCTGGCCATTGGCGGATCCAAAGGCGGAACTGGCGCCAAGGGCGAGGCCTTGTTCCCTGCTTCGCCGCGGTCCAGCAGCCGCCGGCCCCGCCCCACGGCCCCGGCCTCGCCCCGAGGGTGACCAGGGAAGGCTCCCGGGCCACGGGATTTTCACAAAGACAGACTCGCCTCCGTTTCTAGCGGCTTTATTTTTGACATACACGACCTCAGACACAAGCGGGGCGGGCAGCGCTAGGTGTACAGAAAGGAGCGGGCTCGGACCGAGCACCCCCTCCCCCGCACGCAAGGTCCAAAGCAAACGCAACTGCGGCGGGAGCCACCGGCGCAGGCCTCGGGCGGTGGAGACAGGCTTAGCTTCCAGGAAAGAGCAGCAGAGAGCGATTCCCAGAACGCGAGGGCTTACAGTTCCCCGAGAAGCAAAAGAACCAGGTCCTTCCCAGGGTTCTCCATTATTTTTTCCTCATTAAAATATATTTTAAGTCAGCACAAACATAACCAAATTGTACAGCTTTAAAGTTCAAAGCAGTCTGCATCTAGGGAACGTGCATGTGGTCAGGAGTGAGCGCGTGAGCAGCGGCTACGTAACTAGCACAGGTGCCAGGCCCCTTGATGGGAATCCCCATGCTCACTGCACAGGCCCAGAGAGGGAGGGGTGGGGTCCCTGGCAAGTTGCTACACTGGTCCCCTTCCTCTTTTAAGCACCACCCGTCCCACCCCACCCTCAGGGGCTGGTGTCAGCTTGGCCCAGGGAAGCACTATAGAGAGGGCTCACCTGAGCACCCCAACCCATGATCCCATGTTGCACTTTGTTCCCAAGTTGGGGCTAAGAAGGCTGGGCCTGGCAGGGACAGGGCTCTCTGGCATGGGGCAGGGAGAAAGCAGTGGCAGACAGTATGCACACACACTTGCCCACTACCATTAAATAACAGGGCTGGGTCTCCAGGTGTCCAAAGTGCTGAAAAGAGGGGCCCTGCTCTAAGGGAGCAGCAGCAAATCCCAGGCCTTCCCACTCTTTGTAGTGCCAGGAAAATACTGAATGTAAGTGGGTGCAGCTTTGCTCGCTGTGAGGAGCAGCAGAATGCGGCAGCCTCTCCTCCCAGAATCGAGGAATCTGGGAGGCACAGGACATCCCCAAAAGGTCCCAAACAGTTCCAGACCCTATGTCTTACCCTCCACCCTACCAGGGAATGACTATCTACACTAATGAAGGGCTACTGCCCCCATGGCTGAAGCCACAGAATGGTACAGGAGAGAAGACTGTAATTTGTGACCAGAAACAGGCAAGCTGTCCCTCCCAGCCCCAAAGAATGGGAACCTGCCCACCAGTGGCACCAGGGCTGGGGGCTAGGAGAGATGGCATCCATCAAGGAGCCCTTAAGAGGCTGCATCTTTAAGGACCAGGAAATGAGTCCATCAGTTACCAAGGCTTCTCACAGCTGGCAGGCTTACCTTTAAAGCCAAACAGGCACTTGCCTAAAGTGACAATGAACAGTGTGGCCCTAGGCTCAAAGGAGAGGGTGCTAACCTTGGCAATGGCTGAAATCGGTGTCACCTCCTGGCCATCTGTTAGAAGCAGCAGATCTGTG
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GCAGGTGTCCAACAGCTTCAGCTTCACCCAGTGCCCCCCAGACAAATAATGACAAGTCCAGGGTCTTCTGATGTGTCAGGCCAGCACTCCCCTTGCTGATGGGAAAACCGGGGCTCGGCCAGCCCCACTGCATCCCCTCACATGATGATACGAGGCTCTGGCACTGACTCGCCAATAGACTTGTGGGGCAGCACGCTGGCTCCGTTGAGGTAGAGCTCATCATTAACTATGACGTCCTCACCCAGCACTGTCACGTTCTCCATGCGTACCTCCAGGAGAGGATAGGCCTTGTCAGGGAGGCAGGCACACTCCCCGCCCCTCTCCCCACCCAGCCCAGCCCACAGGCTTACCCACTGACCCACGCGGCAGCGCCAGCCCACAATGCAGGACTCAAGCCAGGAATGGGAACGGATCCGGGCATCCCGCAGCACCGTGCACCGCCGGATACACACACCATCTTCGACCACCACGCCAGGTCCCAGGCTCACATTGGGGCCAATGCTGCAGTTCTGGCCGATGCGGGCACTTGGGTCCTGAGAGCGGTGGGAAAAATACAAGTGGGCCACTTGTCTCCCAAGACTGAGGGGGTTAATGATGGGCTGGGCAAGGGCCTCACCACCAGCACGTTGCCCACAATGCCAGGGCCTGAGCACAGCCGCTCAGGCTGCTTCTGCCTCAGTGACTGCAGGAAGAGGCACATGCCAGTGAGGAAGTCCTTGGGCTGCCCAATGTCCATCCAGAAGCCTGTAGGGAGGGATGCATCAGGGGCCTCAGCCCAGCCACAGACCACCCCCACCCTGTGGCCTCCCTGCCTCACCCTGTAACTCCATGGCATATAGCTGCCCCTCCTTGGCCATAATGGGGAAGACCTCCTTCTCAATGGACGTAGGCTGCAGCTGTGGGAGTGGGCAGCTTGTGAGCAGGGTCATGGCGGTGATGGCCTGCCCCACCCCAGCCCACCAACAGCTGTCTCCTACACACCTGGATGCGCTGCAGCACTGCAGGGCTCAGGATGTACATGCCTGCGTTGATCTTATTGGACACAAACACCTGTGGCTTCTCCACGAACCGGTGAATGCGGCCTGTGTCAGCCTCACACACCACCACACCGTACTTGGAGGGTTCCTCCACCTTGGTCACCTGAATGCAAGGAAGGGGACCTCGGACCTAGTCCAGTGTTCCTAAGCCTTGATACACATGCCGTTCCAGATCTCAAGAGACTCTGCCCCAAGTGCTTAAAGATACATACTGCACAGCTCTGTATCCATAACATCCGAAGGCAGATGAAGGCTAGGGGGCATGGGAGGCTGGGCATGGAGGGTGAAAGTGTCAAGAGAGAGAAGACCTGGCGCCTTACCAGGATGGAGCCCTCCTGGCCATGGTGCCGGTGGAACTGCACCATGGCTTGGAAGGGGAAATCGCAGATCACGTCACTGTTGAGGACGAAGAAAGGGTCTGCAGTCTCAGAGAGTAGGTCACGGGCCAGCGCCAGGGGCCCAGCTGGGGGAAGGGGACAGGTCACCACCTTGCTGGAGGTCTGAGTCCCTGGATTCAGGCTCAGCAGGCCCACTCCAGGCTGGGTCTTACCCTTTTCCTGGCCTTAAACCCTCCCCCAAGGGACCTTTCTGCCTCTACTGACCTGTCCCCAAAGGCTCCTCTTCATGGGACATGGAGATTCGGATTCCCAGCTGGAAGGAAGAGGCCCCCCCAGTCAGGTTCTACCAGGATGGGAAGTTGGGCGGGGACCGAGAATAAGGGCCAAGAGTCTGTGCCTCACCCTCTGCTCCTGTGCCTTCATTTCCTTCTCCAGCACCTGCGACATGTAGCTCACGGCCAGGATCACGTGGTCCACGCCTGCCTGTCAGAACGCAGGCCGACGGGCGGGCTCAGTCAGAAGGTACGGGAGCCCCTGACCCCTAGTCGCTGGCCATCCCTAGTCCCGCCAGATCCGAACGCGACTCTGATCCCGACCCAGGGTCTTACCGCGGCTAGCGCCTCCACTTGGTGCAGCAAGATGGGCTTATTGCAGAAGTCCACCAGTGGCTTCGAGGTGCTCAGCGTCAGCGGCCGTAGCCGCGTCCCATAGCCCCCCACTAAGATCAGTGCCTTCATCGCGCCTGCGGACGTTGAGGGGGTGTCCCGGGCTCTGAGGTGCCTGCAGCCCGCCTGGCCGGTCCCTGCCGCGCACTCCCAACGCCGTGCCCGGCCCCGCGCCCTTCACCAACCCGCCTGACAGACTCTGGCTCCACCTCGTCCGCCCGGTCGCCCTGACGCCGGATCCAGGGCCGCCACAACACAGAACGCGACACCGGGTAGACGGCTGCTGGCCCCGAACTCAGGCCGGACCCGGCGCGGGCAGTGACGCGACCACCGCGGGCCAATCGGCTGCCGCGTACGTGGCACGGCCGCCGGCGTCGGAACGTTGGAGCGCAGCGCTGCGACAGACGTAGCCAATGAGCGCCCGAGTACGCCGGGCTGCCATGGAGACCCGGGCCGGGACCCGCGGGTCAGCTGGCCATTGGCGGATCCAAAGGCGGAACTGGCGCCAAGGGCGAGGCCTTGTTCCCTGCTTCGCCGCGGTCCAGCAGCCGCCGGCCCCGCCCCACGGCCCCGGCCTCGCCCCGAGGGTGACCAGGGAAGGCTCCCGGGCCACGGGATTTTCACAAAGACAGACTCGCCTCCGTTTCTAGCGGCTTTATTTTTGACATACACGACCTCAGACACAAGCGGGGCGGGCAGCGCTAGGTGTACAGAAAGGAGCGGGCTCGGACCGAGCACCCCCTCCCCCGCACGCAAGGTCCAAAGCAAACGCAACTGCGGCGGGAGCCACCGGCGCAGGCCTCGGGCGGTGGAGACAGGCTTAGCTTCCAGGAAAGAGCAGCAGAGAGCGATTCCCAGAACGCGAGGGCTTACAGTTCCCCGAGAAGCAAAAGAACCAGGTCCTTCCCAGGGTTCTCCATTATTTTTTCCTCATTAAAATATATTTTAAGTCAGCACAAACATAACCAAATTGTACAGCTTTAAAGTTCAAAGCAGTCTGCATCTAGGGAACGTGCATGTGGTCAGGAGTGAGCGCGTGAGCAGCGGCTACGTAACTAGCACAGGTGCCAGGCCCCTTGATGGGAATCCCCATGCTCACTGCACAGGCCCAGAGAGGGAGGGGTGGGGTCCCTGGCAAGTTGCTACACTGGTCCCCTTCCTCTTTTAAGCACCACCCGTCCCACCCCACCCTCAGGGGCTGGTGTCAGCTTGGCCCAGGGAAGCACTATAGAGAGGGCTCACCTGAGCACCCCAACCCATGATCCCATGTTGCACTTTGTTCCCAAGTTGGGGCTAAGAAGGCTGGGCCTGGCAGGGACAGGGCTCTCTGGCATGGGGCAGGGAGAAAGCAGTGGCAGACAGTATGCACACACACTTGCCCACTACCATTAAATAACAGGGCTGGGTCTCCAGGTGTCCAAAGTGCTGAAAAGAGGGGCCCTGCTCTAAGGGAGCAGCAGCAAATCCCAGGCCTTCCCACTCTTTGTAGTGCCAGGAAAATACTGAATGTAAGTGGGTGCAGCTTTGCTCGCTGTGAGGAGCAGCAGAATGCGGCAGCCTCTCCTCCCAGAATCGAGGAATCTGGGAGGCACAGGACATCCCCAAAAGGTCCCAAACAGTTCCAGACCCTATGTCTTACCCTCCACCCTACCAGGGAATGACTATCTACACTAATGAAGGGCTACTGCCCCCATGGCTGAAGCCACAGAATGGTACAGGAGAGAAGACTGTAATTTGTGACCAGAAACAGGCAAGCTGTCCCTCCCAGCCCCAAAGAATGGGAACCTGCCCACCAGTGGCACCAGGGCTGGGGGCTAGGAGAGATGGCATCCATCAAGGAGCCCTTAAGAGGCTGCATCTTTAAGGACCAGGAAATGAGTCCATCAGTTACCAAGGCTTCTCACAGCTGGCAGGCTTACCTTTAAAGCCAAACAGGCACTTGCCTAAAGTGACAATGAACAGTGTGGCCCTAGGCTCAAAGGAGAGGGTGCTAACCTTGGCAATGGCTGAAATCGGTGTCACCTCCTGGCCATCTGTTAGAAGCAGCAGATCTGTG
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Task1_train_7035
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Located on Chromosome 3, this mutation impacts TRAIP (TRAF interacting protein). What is its biological consequence — is it benign or pathogenic, and which disease is associated if any?
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Pathogenic; Seckel syndrome 9
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ACATACACACAATTAAAATATTCAACAATAACGTAGAAGTGGGAAAAGAATGTTAGTATTCTAAGCTCTTTGAGTTGCCTGGGAAAATGAGAAAGGTGTTGATTAACCTTGAAATTGGTAAGTTAAGGATACATACCTTAATTTCTAGGATAACCACTTATAAATGGAAATGGGGTATATAACGACCCAACTAACTGAGGGAAAAATGGAGAAATACAGAATATTTAACCAATTCCTACCAAGGCAAGAAAGGAGACAATAAGATATAATAGGCAAGGCAAAACAGAATCGACTAAAGACAATATGTTTACTCTTTATTTAATCAGTAATTGCAACAATTTTAAGTAGACTAAATGGTCCAGTTAAATACAAAGATTATCAGACTGGATTTTTAAAAGTCCAACTAAATGTTGTTTTCCAAGGCTGGGTGCGGTGGTTCACACCTGTAATCCTAGCACTTTGGGAGGCAGAGGTGGGTGGATTACTTGAGTCCAGGGGTTCAAGACCAGCCTGGGCAACATAGCAAGACCCCATCTCTACTAAAAATACAAAAAAAAAAAAATAGTCAAGCATGGTGGCAGGCGCCTGTAGTCCCAGCTACTTGGGAGGCTAAGATGGGAGAATCACCTTAGCCCAGGAGGTAGAGGCTGCAGTGAGCCGAGATGGCACCACTGCACTGCAGCCTGTGTAACAGAGTGAGACCCTGTCTCAAAATAAAATAAAATAAAGATCTTTGCAGTAAGCTAAAGTACTTTTTAATATACAAAAAAAGAAATAAATGCTGTTTCAAGGGATACATGTAAAACACAAGGACACAGAAAAGTTTAAAGTAAAAGGATAGGCCCTAGCACTTTGAGAGGCCAAGGTGGGTGGATCACCTGAAGTCAGGAGTTCGAGACCAGCCTGGCCAACATGGAGAAACCCTGTCTATGAAAAACACAAAAATTAGCTGGGCGTGGTGGCGCACGCCTGTAATGTCAGCTACTTGGGAGGCTGAGGAAGGAGAATCACTTGAACTCAGGAGGTGGAGGTTGCAGTGAGCCGAGATCACGCCACTGCACTCCAGCCTACACGACAGGAGCGAGACTCCATCTCAAAAATAAAATAAAATAAAAATAAATAAATAAAGTAAAAGGATAGAAGAAAATAGAGTAGGCAAACAGAAAATAGAGTACGCTTAGAGGCGAGCTTAATTTCTAGTCTAACCAAACAGCAGTGGCTCCCTCAGCATGGGGCTCAGGCTGTCAGCAACACAGGCCTAAACAAAGCTTTGCAAGTAAGCCAGCAGCCATCAGTGTCATGCCTGCCTTTCTGCTTCCTAGGGCCTTTAGCCCCACAAGACCCTGTGATTATTATCACCCACCATTCCCAGGGGTAACGCTGCCTTATCTCTTTTGCTAGGAGGTCCAAACCGGCCTGTCCACATCTGCTAGGGGAATCTTTCCCCACTAGCTGTACACTCAACAGAATGGCCCTACACGGTCAGCAGGACCCCTGGATAGGGGAGCATCTCCTTGCCTTCCCCATGTTAAACGGGTTTGCTGACATGGCGAATACATTGGGGTGTCTGGACAGTGAGATGACTCTGGGTAGAATAATTCCAAACCATCAAGTAAGGCACAGCAAACTCTCTTGGGTAGCCAGAAGCCTAGCAGGTTTCTATCTGGAAGAAATAAAAGGACTTGTTGATGTGGTGAAAGCTCACCCTTGCCCAGGCTAACGGTTTTGAAATCACATCTGTTTGTATAGGTGATCAAGGAAGCATCTATCTTCACTGAGCCATCTTAGTCCCCCTCAGGCTTAGCTCAGCTATCACCTCTACCAGAAAGCCTGTCCTGACCCACTTCTGCCCAGGTTGGGAAGCTCCCGTGGGGCCTCGTCTAGGAGGAAGGTTCTCATCACTTGTCTGGATTCCGGGGTTGGACCGCCTGGAGGCCCAACACCTCAAGGCCCTGAAGCGGTACCCGGGCAAACACCGGGCCCCAACACTGCAGTCACTCACCACTGCAAGTGGAAGGTGTGGCCGCAGTGGATGGCGGCCACGTCGCGGGAGTGATCGAAGAAGTCGGAGCAGATAGTGCACAGAGCACGGATAGGCATGATGGCTGGACTCAAGGGGCCCAGGCAGCCAAAGAAACTGCTACAGGTCCGGCTTCGTAGACGCGCCCCCGCGCCTCCGCTTGCTTCAAATTTGGCTCCGCAGCACGACTTCCTGGAGCGGGCCGGAAGTGACAACACAAAACTTTGGGCGGAGCGTGAATACTTCGCCTGGATTGGACAAATTCTCGGATGGGCGGAACTATGGGCGGGGCTTAGCGGCCCCGAGGCCGTAGAGAATCCTGGGCGGAGCGCGGTCGCTCTCAGGCGTCCTCTGGGGAGACTCGACCTGCCACTTGAGAGCGCAGCATTATATCAAGGCGGGGAGCAGCGAGGCTGCCAGCTGGACCCTTTTCCAGGGCAAGGCAGCGCATTGTGGTCCCATGCCAGAGCTGGCGCGAGGCAGGCTGGGCCAAGGCAGAGAAAACCGCAGCCGCAAGGGAATAGAACAATGGTCCCGATGGGTCCCTTGGGCTCTGGACAGTGATGGACCATGCGCTATGGTCTGTAGTTCCCATAGACCACAATACCCTACCCTCTCAGTCCTCAGTTCCGGGCGATTCTAGAAAGATGGACACATAGGCCCCAGTCCCTCAGGTCACCCCAGGCCAACCTTGGCTTCATCCAAGTAAGATATGACTATCCTTGAGTTTGGAGACACTAGGGCCAGTACCCTGACTTTAGCTCTTAGCTCTCAGGAGGATCAGTTATGCTTGAGACTGTAGTAGGGTTGGAATTTTGGAGGCCCAGATGCTTCAAAGACTAGAGACTAACAAATCCTTTTTATTATTCCCACATCAGAGAAGTTATCTTTGAGGAGGTTATCTTTGAGGTCCTCCCAGAGAGCAGCATCCCTGGTGAGTTCACCCAGGCCCACCTGGGCTGGAGTAAGTCAACTTTTGGGTTTTTAGGCTTAGTATCTGTGGCAGTGTTACTCCCTCTACCCAGAAGAAACCCTGTGCATAGTCCCATAATATAAAGCTGATCTGCTCCAGCTGAAATAGACCCAGAGTGAGATTTCATTTGGGGCATAGGTGGAAAGCACAGGTGTTCACAGAAAGAAGGAATCAACACAGAGCAGCATAGAATCTTTGTGCATTGCTCACCCTACACCCTCTCCCTAGCTCAGGGAAGCTATCTTTGGCTATGAGCAGGGTCTGTCCTTGCGGTGGCTGGCCCAGGTAGATTCCAGCTCTATGCCTAAATCAAGAGTAAGGCTCCTCGGTCAACAGGAGTCAAAAACAGCAGCCCTTACTTGAGCTCTCAGCCCAGGGAGTATTCCTTGGTCCAAATGCAGCCCAAGACCCACTACTCACATGGATTTCTAGAGTTCAGAGGACCCCCACCACCACCACCATTGAGGAATACACTGTGGTGAGGATGATCTTCACCCTCAGCCCAAGAAATCCACAGGGCACTGTTCACTACTACTCCCAGCCACTACTTGTGAACCTGCTCCCAGCCTCTCCCTTCCCCACTGCCTTCCAGGGGCTCCTCCCCAGTAGGACAGAGGAAGCAAAGGCGAGAGGGTGGCCAGAGGCTTTGCAGGGTGATGTTTATTTGCCAGGTTCAGTAGGCACACAGTTAACCCACCGACCTTCACACACCAGAGCAGACCCACAGGCATGCAGGGAGAAGGGCAGGACCACCACGGAGTGCCGAGCAAGGGCGAGGACCAATGTGGCTGCCTATCCAGGCTGTGGTAGGGTCTGACAAAGGGCACCTGTCAGGAGCCTCCCTCAGGAAACTGGGGAGTTTAACCCTACTTCCTCATCCCAGAAAAAGCAACTCAATGTGGCTCTGAGGCACCTGGGCCTCTGATAGAAGTGAGCTGTAGAAAGAGGGAGTTCCTCTTCATTTCATTGTTGAACTGAGCAGAAAATCTGCCCCTGTAAAGGGCAAACCTCCAAATCAGATTATGAGTTATTGCCATGCAGCAAGCCCCCTAGGGTGGAGAGGACTTGTGGGCTGAGATTGTAGGAGGTGGGCATCTAGGAAG
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ACATACACACAATTAAAATATTCAACAATAACGTAGAAGTGGGAAAAGAATGTTAGTATTCTAAGCTCTTTGAGTTGCCTGGGAAAATGAGAAAGGTGTTGATTAACCTTGAAATTGGTAAGTTAAGGATACATACCTTAATTTCTAGGATAACCACTTATAAATGGAAATGGGGTATATAACGACCCAACTAACTGAGGGAAAAATGGAGAAATACAGAATATTTAACCAATTCCTACCAAGGCAAGAAAGGAGACAATAAGATATAATAGGCAAGGCAAAACAGAATCGACTAAAGACAATATGTTTACTCTTTATTTAATCAGTAATTGCAACAATTTTAAGTAGACTAAATGGTCCAGTTAAATACAAAGATTATCAGACTGGATTTTTAAAAGTCCAACTAAATGTTGTTTTCCAAGGCTGGGTGCGGTGGTTCACACCTGTAATCCTAGCACTTTGGGAGGCAGAGGTGGGTGGATTACTTGAGTCCAGGGGTTCAAGACCAGCCTGGGCAACATAGCAAGACCCCATCTCTACTAAAAATACAAAAAAAAAAAAATAGTCAAGCATGGTGGCAGGCGCCTGTAGTCCCAGCTACTTGGGAGGCTAAGATGGGAGAATCACCTTAGCCCAGGAGGTAGAGGCTGCAGTGAGCCGAGATGGCACCACTGCACTGCAGCCTGTGTAACAGAGTGAGACCCTGTCTCAAAATAAAATAAAATAAAGATCTTTGCAGTAAGCTAAAGTACTTTTTAATATACAAAAAAAGAAATAAATGCTGTTTCAAGGGATACATGTAAAACACAAGGACACAGAAAAGTTTAAAGTAAAAGGATAGGCCCTAGCACTTTGAGAGGCCAAGGTGGGTGGATCACCTGAAGTCAGGAGTTCGAGACCAGCCTGGCCAACATGGAGAAACCCTGTCTATGAAAAACACAAAAATTAGCTGGGCGTGGTGGCGCACGCCTGTAATGTCAGCTACTTGGGAGGCTGAGGAAGGAGAATCACTTGAACTCAGGAGGTGGAGGTTGCAGTGAGCCGAGATCACGCCACTGCACTCCAGCCTACACGACAGGAGCGAGACTCCATCTCAAAAATAAAATAAAATAAAAATAAATAAATAAAGTAAAAGGATAGAAGAAAATAGAGTAGGCAAACAGAAAATAGAGTACGCTTAGAGGCGAGCTTAATTTCTAGTCTAACCAAACAGCAGTGGCTCCCTCAGCATGGGGCTCAGGCTGTCAGCAACACAGGCCTAAACAAAGCTTTGCAAGTAAGCCAGCAGCCATCAGTGTCATGCCTGCCTTTCTGCTTCCTAGGGCCTTTAGCCCCACAAGACCCTGTGATTATTATCACCCACCATTCCCAGGGGTAACGCTGCCTTATCTCTTTTGCTAGGAGGTCCAAACCGGCCTGTCCACATCTGCTAGGGGAATCTTTCCCCACTAGCTGTACACTCAACAGAATGGCCCTACACGGTCAGCAGGACCCCTGGATAGGGGAGCATCTCCTTGCCTTCCCCATGTTAAACGGGTTTGCTGACATGGCGAATACATTGGGGTGTCTGGACAGTGAGATGACTCTGGGTAGAATAATTCCAAACCATCAAGTAAGGCACAGCAAACTCTCTTGGGTAGCCAGAAGCCTAGCAGGTTTCTATCTGGAAGAAATAAAAGGACTTGTTGATGTGGTGAAAGCTCACCCTTGCCCAGGCTAACGGTTTTGAAATCACATCTGTTTGTATAGGTGATCAAGGAAGCATCTATCTTCACTGAGCCATCTTAGTCCCCCTCAGGCTTAGCTCAGCTATCACCTCTACCAGAAAGCCTGTCCTGACCCACTTCTGCCCAGGTTGGGAAGCTCCCGTGGGGCCTCGTCTAGGAGGAAGGTTCTCATCACTTGTCTGGATTCCGGGGTTGGACCGCCTGGAGGCCCAACACCTCAAGGCCCTGAAGCGGTACCCGGGCAAACACCGGGCCCCAACACTGCAGTCACTCACCACTGCAAGTGGAAGGTGTGGCCGCAGTGGATGGCGGCCACGTCGCAGGAGTGATCGAAGAAGTCGGAGCAGATAGTGCACAGAGCACGGATAGGCATGATGGCTGGACTCAAGGGGCCCAGGCAGCCAAAGAAACTGCTACAGGTCCGGCTTCGTAGACGCGCCCCCGCGCCTCCGCTTGCTTCAAATTTGGCTCCGCAGCACGACTTCCTGGAGCGGGCCGGAAGTGACAACACAAAACTTTGGGCGGAGCGTGAATACTTCGCCTGGATTGGACAAATTCTCGGATGGGCGGAACTATGGGCGGGGCTTAGCGGCCCCGAGGCCGTAGAGAATCCTGGGCGGAGCGCGGTCGCTCTCAGGCGTCCTCTGGGGAGACTCGACCTGCCACTTGAGAGCGCAGCATTATATCAAGGCGGGGAGCAGCGAGGCTGCCAGCTGGACCCTTTTCCAGGGCAAGGCAGCGCATTGTGGTCCCATGCCAGAGCTGGCGCGAGGCAGGCTGGGCCAAGGCAGAGAAAACCGCAGCCGCAAGGGAATAGAACAATGGTCCCGATGGGTCCCTTGGGCTCTGGACAGTGATGGACCATGCGCTATGGTCTGTAGTTCCCATAGACCACAATACCCTACCCTCTCAGTCCTCAGTTCCGGGCGATTCTAGAAAGATGGACACATAGGCCCCAGTCCCTCAGGTCACCCCAGGCCAACCTTGGCTTCATCCAAGTAAGATATGACTATCCTTGAGTTTGGAGACACTAGGGCCAGTACCCTGACTTTAGCTCTTAGCTCTCAGGAGGATCAGTTATGCTTGAGACTGTAGTAGGGTTGGAATTTTGGAGGCCCAGATGCTTCAAAGACTAGAGACTAACAAATCCTTTTTATTATTCCCACATCAGAGAAGTTATCTTTGAGGAGGTTATCTTTGAGGTCCTCCCAGAGAGCAGCATCCCTGGTGAGTTCACCCAGGCCCACCTGGGCTGGAGTAAGTCAACTTTTGGGTTTTTAGGCTTAGTATCTGTGGCAGTGTTACTCCCTCTACCCAGAAGAAACCCTGTGCATAGTCCCATAATATAAAGCTGATCTGCTCCAGCTGAAATAGACCCAGAGTGAGATTTCATTTGGGGCATAGGTGGAAAGCACAGGTGTTCACAGAAAGAAGGAATCAACACAGAGCAGCATAGAATCTTTGTGCATTGCTCACCCTACACCCTCTCCCTAGCTCAGGGAAGCTATCTTTGGCTATGAGCAGGGTCTGTCCTTGCGGTGGCTGGCCCAGGTAGATTCCAGCTCTATGCCTAAATCAAGAGTAAGGCTCCTCGGTCAACAGGAGTCAAAAACAGCAGCCCTTACTTGAGCTCTCAGCCCAGGGAGTATTCCTTGGTCCAAATGCAGCCCAAGACCCACTACTCACATGGATTTCTAGAGTTCAGAGGACCCCCACCACCACCACCATTGAGGAATACACTGTGGTGAGGATGATCTTCACCCTCAGCCCAAGAAATCCACAGGGCACTGTTCACTACTACTCCCAGCCACTACTTGTGAACCTGCTCCCAGCCTCTCCCTTCCCCACTGCCTTCCAGGGGCTCCTCCCCAGTAGGACAGAGGAAGCAAAGGCGAGAGGGTGGCCAGAGGCTTTGCAGGGTGATGTTTATTTGCCAGGTTCAGTAGGCACACAGTTAACCCACCGACCTTCACACACCAGAGCAGACCCACAGGCATGCAGGGAGAAGGGCAGGACCACCACGGAGTGCCGAGCAAGGGCGAGGACCAATGTGGCTGCCTATCCAGGCTGTGGTAGGGTCTGACAAAGGGCACCTGTCAGGAGCCTCCCTCAGGAAACTGGGGAGTTTAACCCTACTTCCTCATCCCAGAAAAAGCAACTCAATGTGGCTCTGAGGCACCTGGGCCTCTGATAGAAGTGAGCTGTAGAAAGAGGGAGTTCCTCTTCATTTCATTGTTGAACTGAGCAGAAAATCTGCCCCTGTAAAGGGCAAACCTCCAAATCAGATTATGAGTTATTGCCATGCAGCAAGCCCCCTAGGGTGGAGAGGACTTGTGGGCTGAGATTGTAGGAGGTGGGCATCTAGGAAG
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Task1_train_7036
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Here’s a variant in GNAT1 (G protein subunit alpha transducin 1) located on Chromosome 3. What is the predicted biological effect — harmless or disease-causing?
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Pathogenic; Congenital stationary night blindness autosomal dominant 3
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CCAGTCCAGAGTCACCAGCCCTTCTTAACCACTTCCTACTGTGTGACCCTTTCAGCCTTTACTTCCTCATCAGTAAAATGAGGCTGATGATATGGGCATCCATACTCCAGGGCCAGTGTGAGCTTACAACAAGATAAGGAGTGGTGCTGAGCCTGGTGCCGGGCAGGCAGCAGGCATGTTTCTCCCAATTATGCCCTCTCACTGCCAGCCCCACCTCCATTGTCCTCACCCCCAGGGCTCAAGGTTCTGCCTTCCCCTTTCTCAGCCCTGACCCTACTGAACATGTCTCCCCACTCCCAGGCAGTGCCAGGGCCTCTCCTGGAGGGTTGCGGGGACAGAAGGACAGCCGGAGTGCAGAGTCAGCGGTTGAGGGATTGGGGCTATGCCAGCCCGATTAGAAGGGTTGGGGGGGCTGAGCTGGATTCACCTGTCCTTGTCTCTGATTGGCTCTTGGACACCCCTAGCCCCCAAATCCCACTAAGCAGCCCCACCAGGGATTGCACAGGTCCGTAGAGAGCCAGTTGATTGCAGGTCCTCCTGGGGCCAGAAGGGTGCCTGGGAGGCCAGGTTCTGGGGATCCCCTCCATCCAGAAGAACCACCTGCTCACTCTGTCCCTTCGCCTGCTGCTGGGACCATGGGGGCTGGGGCCAGTGCTGAGGAGAAGCACTCCAGGGAGCTGGAAAAGAAGCTGAAAGAGGACGCTGAGAAGGATGCTCGAACCGTGAAGCTGCTGCTTCTGGGTAGGGGTGTGGGCCCAGGTGGGGCCACTGCCACCAGGTCATTGGTCTGGAGGCAGGCAGGCAGCCCTTCTGTGAAGCAAGGATTCCCTGGGAAGCAGTATGAGCCTGTGACAGAGTAGGGCACAGGGTGGGAGCCCTGGCCAAGCAAGGCCAGGCCTGACAGGTGGTGTCCTAGTCCCCCAGGGCTGGACATCCCACAAAGCCCCTCTCCAGACGGCTCTGCCTCAGGTGACCCACCCTCCCCAGAAGTGCGTGCCAACCACACTCTTGCACGGGTGTGTGATGCCGACTTTTCCGTGGCTGGGTTCCCGCAAGCTTCATGCAGCCTTTGGTTTGATACGCCTGCTAGGCAATGCTCAGAAGCCAGGAGCCTCACTGGGAGCCCGTTATTGGGCTGCTACTTTGGGAAGGGGATGGCCATAGTCCTCCTGGGAGTGGGGAGCCTCTAGGACCACCCAGATCCACAACGAATGGCCCTCAGGTGCCAGAGGGCTGTGGCTGATAGACCTACAAAGCAGCCAGAGGGGCTGGCGGGTACTGAGGCCCAGTGGGAGTAGATAAAGCCGCGTCCACTGGACCATGGGCACTGAGGAGAGATGGGGCTGATCCAGGCCTGCCTCAAGGTCACTGCCTGACCTCTCAAGGGGAAAAAGCAGCTTCAAGAGGGGCTCCACCCAAGCTCCCCAGGGTCTGGTCAACCAGCTGGAGGTGGGTGAGGGACCAAGCCAGTCCCACTTTCCCCCAAGGCAGAGAGGCTAAGCCGGAAATCTCATTAACTGTGCCCAACGCCCTCGCAGGGGCAAGCTCAGAAAGGATGTCAACTCTGCCCTCCCTCCTACCCAAAAGAGCTAATTCCCTCTGAGCCTCCTGGAGACACCTGCACCCCTTCAGGTGAAATGCAAGGGGTTTACCCGCCTCAAATAACCCAGTGCTTGCGGTACCAGAGGCTCCCACGAGGTGGCGATGACGCTCCGGGATTTCTTCATTGCAGTCTCACAGCATAATAAAGGCTGCCTGTGCCGGGGTCTTGGGGACTCCCCTGTCCCAGAACAGTTGAGGTCGTTGAGTCCCCTCGTTGGCTTCCTTTCTTCACTTTCCTGGCATTTGCAAACCTTGTGACTTCAGGATGTCAGGACTTAATTTGGATGGGGGGGTAGGTGTGGCTACGGGGTCGGGGCTGGCGCTCAGGCCTCTTCGCTGCGGGTCCACCCTGCCAACTCGGGAGGTCCCCGTCCTCCTGGCCTCCTTGCTGGAGGGGGCAGGCTGGTCAGCGCAGCTCTGAGGCGCCGCGTCTCTTTCAGGTGCCGGTGAGTCCGGGAAGAGCACCATCGTCAAGCAGATGAAGTGAGTGCCCCTGCCTGTCCCGAGGCCCCTGGGTCTGGGTCCTTCCCCACTTCCCCACGAGGCGCTGATTCTGCTCTCCTCGGCCTCAGGATTATCCACCAGGACGGGTACTCGCTGGAAGAGTGCCTCGAGTTTATCGCCATCATCTACGGCAACACGTTGCAGTCCATCCTGGCCATCGTACGCGCCATGACCACACTCAACATCCAGTACGGAGACTCTGCACGCCAGGTGTGCCAGGAGGCGGGCTGAGCGGGCCTCTGGGGACTCGAGGCTCGCGGCTGGGCCCGAGTCCCTGGCCGCCACCAGCCACTCTCACCCTGCCCCCAGGACGACGCCCGGAAGCTGATGCACATGGCAGACACTATCGAGGAGGGCACGATGCCCAAGGAGATGTCGGACATCATCCAGCGGCTGTGGAAGGACTCCGGTATCCAGGCCTGTTTTGAGCGCGCCTCGGAGTACCAGCTCAACGACTCGGCGGGCTAGTGAGCGCGCGGGCAGCGCGGGGCGCGGGGCGCGGGGCGCAGGGGGCCCTCCACGCCTCCCCACCCACCTACGGCCGGGTCTCGCGCAGCTACCTCTCCGACCTGGAGCGCCTGGTAACCCCGGGCTACGTGCCCACCGAGCAGGACGTGCTGCGCTCGCGAGTCAAGACCACTGGCATCATCGAGACGCAGTTCTCCTTCAAGGATCTCAACTTCCGGTACGACCCATACGCTAGCCCAGGAGGTCACTGCCCCAGGCCCCGTCCTGCCCCGGGGACCCCATCCCTGCGATAGACCCTGCCCCTTCCCTGATACCCCGCCAGCAGAAAGGGTGGTAGTCCCGGCCGAGAGCTCCCCGACCAGCACAGGGCGAAGGGATGTTGCCTGTGGGGCCCGGGGCGCAGGTTCAGGCCCCCGCGGCCCCGCAGGATGTTCGATGTGGGCGGGCAGCGCTCGGAGCGCAAGAAGTGGATCCACTGCTTCGAGGGCGTGACCTGCATCATCTTCATCGCGGCGCTGAGCGCCTACGACATGGTGCTAGTGGAGGACGACGAAGTGGTGCGTGCCAGGCAGGGCCTGTGTTCCAGGGGGGCGAGGAGGAGCTGCTGGTCCCTGGAGGCGGAGACCGCGCGCTGGGCTGGGGGAGGGCACGGGAGGGGATGCCTGTCCCGGGCGGCCTGAGGAGGCCCGGAGGCGTTCAGCAGGCCCATCTGGGGCAGTGCGGGGAGCCCTCTGAGAGCCAGCTGAGCGGGAAGCCCCGCGTGCCCGGGAGCCCAGAGAGCAGGTGCTGCGGGTCGGACGCTACCCCGGGTGCCCAACAGCTGCTGCCCTCCTCAGAACCGCATGCACGAGAGCCTGCACCTGTTCAACAGCATCTGCAACCACCGCTACTTCGCCACGACGTCCATCGTGCTCTTCCTTAACAAGAAGGACGTCTTCTTCGAGAAGATCAAGAAGGCGCACCTCAGCATCTGTTTCCCGGACTACGATGGTGAGAAGTCCGCAAGGCCGCCAGGCGGCGCCCCCGCCCCACGATCGCGGCGCGCACCCCCCGCACGGGGAAGGAAGGGCTGAGCAGAGTGAGAGCTCCCGCCCCCGCAGGACCCAACACCTACGAGGACGCCGGCAACTACATCAAGGTGCAGTTCCTCGAGCTCAACATGCGGCGCGACGTGAAGGAGATCTATTCCCACATGACGTGCGCCACCGACACGCAGAACGTCAAATTTGTCTTCGACGCTGTCACCGACATCATCATCAAGGAGAACCTCAAAGACTGTGGCCTCTTCTGAGGTAGGTCGCTGCCCTCTCCAGGCTCTTGCCTCAATACCCCAGCCCCGTCCAGCTCCCCACCCCACACCACGGCCCTGGAGCCTCACCCCCAAATCCTGGAGCCTACTGCCTCCAGGCCCCACCCCAGCTCCTCAGGCTCCACCCCACCGACAGAGGCCCCGCCCCACCCCACAAGTCCCACCCATTGAATTTCTTTTGGCCCCGCCCCAAGACCTCAGGTGTCACAGCTT
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CCAGTCCAGAGTCACCAGCCCTTCTTAACCACTTCCTACTGTGTGACCCTTTCAGCCTTTACTTCCTCATCAGTAAAATGAGGCTGATGATATGGGCATCCATACTCCAGGGCCAGTGTGAGCTTACAACAAGATAAGGAGTGGTGCTGAGCCTGGTGCCGGGCAGGCAGCAGGCATGTTTCTCCCAATTATGCCCTCTCACTGCCAGCCCCACCTCCATTGTCCTCACCCCCAGGGCTCAAGGTTCTGCCTTCCCCTTTCTCAGCCCTGACCCTACTGAACATGTCTCCCCACTCCCAGGCAGTGCCAGGGCCTCTCCTGGAGGGTTGCGGGGACAGAAGGACAGCCGGAGTGCAGAGTCAGCGGTTGAGGGATTGGGGCTATGCCAGCCCGATTAGAAGGGTTGGGGGGGCTGAGCTGGATTCACCTGTCCTTGTCTCTGATTGGCTCTTGGACACCCCTAGCCCCCAAATCCCACTAAGCAGCCCCACCAGGGATTGCACAGGTCCGTAGAGAGCCAGTTGATTGCAGGTCCTCCTGGGGCCAGAAGGGTGCCTGGGAGGCCAGGTTCTGGGGATCCCCTCCATCCAGAAGAACCACCTGCTCACTCTGTCCCTTCGCCTGCTGCTGGGACCATGGGGGCTGGGGCCAGTGCTGAGGAGAAGCACTCCAGGGAGCTGGAAAAGAAGCTGAAAGAGGACGCTGAGAAGGATGCTCGAACCGTGAAGCTGCTGCTTCTGGGTAGGGGTGTGGGCCCAGGTGGGGCCACTGCCACCAGGTCATTGGTCTGGAGGCAGGCAGGCAGCCCTTCTGTGAAGCAAGGATTCCCTGGGAAGCAGTATGAGCCTGTGACAGAGTAGGGCACAGGGTGGGAGCCCTGGCCAAGCAAGGCCAGGCCTGACAGGTGGTGTCCTAGTCCCCCAGGGCTGGACATCCCACAAAGCCCCTCTCCAGACGGCTCTGCCTCAGGTGACCCACCCTCCCCAGAAGTGCGTGCCAACCACACTCTTGCACGGGTGTGTGATGCCGACTTTTCCGTGGCTGGGTTCCCGCAAGCTTCATGCAGCCTTTGGTTTGATACGCCTGCTAGGCAATGCTCAGAAGCCAGGAGCCTCACTGGGAGCCCGTTATTGGGCTGCTACTTTGGGAAGGGGATGGCCATAGTCCTCCTGGGAGTGGGGAGCCTCTAGGACCACCCAGATCCACAACGAATGGCCCTCAGGTGCCAGAGGGCTGTGGCTGATAGACCTACAAAGCAGCCAGAGGGGCTGGCGGGTACTGAGGCCCAGTGGGAGTAGATAAAGCCGCGTCCACTGGACCATGGGCACTGAGGAGAGATGGGGCTGATCCAGGCCTGCCTCAAGGTCACTGCCTGACCTCTCAAGGGGAAAAAGCAGCTTCAAGAGGGGCTCCACCCAAGCTCCCCAGGGTCTGGTCAACCAGCTGGAGGTGGGTGAGGGACCAAGCCAGTCCCACTTTCCCCCAAGGCAGAGAGGCTAAGCCGGAAATCTCATTAACTGTGCCCAACGCCCTCGCAGGGGCAAGCTCAGAAAGGATGTCAACTCTGCCCTCCCTCCTACCCAAAAGAGCTAATTCCCTCTGAGCCTCCTGGAGACACCTGCACCCCTTCAGGTGAAATGCAAGGGGTTTACCCGCCTCAAATAACCCAGTGCTTGCGGTACCAGAGGCTCCCACGAGGTGGCGATGACGCTCCGGGATTTCTTCATTGCAGTCTCACAGCATAATAAAGGCTGCCTGTGCCGGGGTCTTGGGGACTCCCCTGTCCCAGAACAGTTGAGGTCGTTGAGTCCCCTCGTTGGCTTCCTTTCTTCACTTTCCTGGCATTTGCAAACCTTGTGACTTCAGGATGTCAGGACTTAATTTGGATGGGGGGGTAGGTGTGGCTACGGGGTCGGGGCTGGCGCTCAGGCCTCTTCGCTGCGGGTCCACCCTGCCAACTCGGGAGGTCCCCGTCCTCCTGGCCTCCTTGCTGGAGGGGGCAGGCTGGTCAGCGCAGCTCTGAGGCGCCGCGTCTCTTTCAGGTGCCGATGAGTCCGGGAAGAGCACCATCGTCAAGCAGATGAAGTGAGTGCCCCTGCCTGTCCCGAGGCCCCTGGGTCTGGGTCCTTCCCCACTTCCCCACGAGGCGCTGATTCTGCTCTCCTCGGCCTCAGGATTATCCACCAGGACGGGTACTCGCTGGAAGAGTGCCTCGAGTTTATCGCCATCATCTACGGCAACACGTTGCAGTCCATCCTGGCCATCGTACGCGCCATGACCACACTCAACATCCAGTACGGAGACTCTGCACGCCAGGTGTGCCAGGAGGCGGGCTGAGCGGGCCTCTGGGGACTCGAGGCTCGCGGCTGGGCCCGAGTCCCTGGCCGCCACCAGCCACTCTCACCCTGCCCCCAGGACGACGCCCGGAAGCTGATGCACATGGCAGACACTATCGAGGAGGGCACGATGCCCAAGGAGATGTCGGACATCATCCAGCGGCTGTGGAAGGACTCCGGTATCCAGGCCTGTTTTGAGCGCGCCTCGGAGTACCAGCTCAACGACTCGGCGGGCTAGTGAGCGCGCGGGCAGCGCGGGGCGCGGGGCGCGGGGCGCAGGGGGCCCTCCACGCCTCCCCACCCACCTACGGCCGGGTCTCGCGCAGCTACCTCTCCGACCTGGAGCGCCTGGTAACCCCGGGCTACGTGCCCACCGAGCAGGACGTGCTGCGCTCGCGAGTCAAGACCACTGGCATCATCGAGACGCAGTTCTCCTTCAAGGATCTCAACTTCCGGTACGACCCATACGCTAGCCCAGGAGGTCACTGCCCCAGGCCCCGTCCTGCCCCGGGGACCCCATCCCTGCGATAGACCCTGCCCCTTCCCTGATACCCCGCCAGCAGAAAGGGTGGTAGTCCCGGCCGAGAGCTCCCCGACCAGCACAGGGCGAAGGGATGTTGCCTGTGGGGCCCGGGGCGCAGGTTCAGGCCCCCGCGGCCCCGCAGGATGTTCGATGTGGGCGGGCAGCGCTCGGAGCGCAAGAAGTGGATCCACTGCTTCGAGGGCGTGACCTGCATCATCTTCATCGCGGCGCTGAGCGCCTACGACATGGTGCTAGTGGAGGACGACGAAGTGGTGCGTGCCAGGCAGGGCCTGTGTTCCAGGGGGGCGAGGAGGAGCTGCTGGTCCCTGGAGGCGGAGACCGCGCGCTGGGCTGGGGGAGGGCACGGGAGGGGATGCCTGTCCCGGGCGGCCTGAGGAGGCCCGGAGGCGTTCAGCAGGCCCATCTGGGGCAGTGCGGGGAGCCCTCTGAGAGCCAGCTGAGCGGGAAGCCCCGCGTGCCCGGGAGCCCAGAGAGCAGGTGCTGCGGGTCGGACGCTACCCCGGGTGCCCAACAGCTGCTGCCCTCCTCAGAACCGCATGCACGAGAGCCTGCACCTGTTCAACAGCATCTGCAACCACCGCTACTTCGCCACGACGTCCATCGTGCTCTTCCTTAACAAGAAGGACGTCTTCTTCGAGAAGATCAAGAAGGCGCACCTCAGCATCTGTTTCCCGGACTACGATGGTGAGAAGTCCGCAAGGCCGCCAGGCGGCGCCCCCGCCCCACGATCGCGGCGCGCACCCCCCGCACGGGGAAGGAAGGGCTGAGCAGAGTGAGAGCTCCCGCCCCCGCAGGACCCAACACCTACGAGGACGCCGGCAACTACATCAAGGTGCAGTTCCTCGAGCTCAACATGCGGCGCGACGTGAAGGAGATCTATTCCCACATGACGTGCGCCACCGACACGCAGAACGTCAAATTTGTCTTCGACGCTGTCACCGACATCATCATCAAGGAGAACCTCAAAGACTGTGGCCTCTTCTGAGGTAGGTCGCTGCCCTCTCCAGGCTCTTGCCTCAATACCCCAGCCCCGTCCAGCTCCCCACCCCACACCACGGCCCTGGAGCCTCACCCCCAAATCCTGGAGCCTACTGCCTCCAGGCCCCACCCCAGCTCCTCAGGCTCCACCCCACCGACAGAGGCCCCGCCCCACCCCACAAGTCCCACCCATTGAATTTCTTTTGGCCCCGCCCCAAGACCTCAGGTGTCACAGCTT
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Task1_train_7037
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Assess the clinical impact of this variant on gene GNAT1 (G protein subunit alpha transducin 1), found on Chromosome 3. State whether it’s pathogenic or benign, and the disease if applicable.
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Pathogenic; Congenital stationary night blindness 1G
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TAGCCCCCAAATCCCACTAAGCAGCCCCACCAGGGATTGCACAGGTCCGTAGAGAGCCAGTTGATTGCAGGTCCTCCTGGGGCCAGAAGGGTGCCTGGGAGGCCAGGTTCTGGGGATCCCCTCCATCCAGAAGAACCACCTGCTCACTCTGTCCCTTCGCCTGCTGCTGGGACCATGGGGGCTGGGGCCAGTGCTGAGGAGAAGCACTCCAGGGAGCTGGAAAAGAAGCTGAAAGAGGACGCTGAGAAGGATGCTCGAACCGTGAAGCTGCTGCTTCTGGGTAGGGGTGTGGGCCCAGGTGGGGCCACTGCCACCAGGTCATTGGTCTGGAGGCAGGCAGGCAGCCCTTCTGTGAAGCAAGGATTCCCTGGGAAGCAGTATGAGCCTGTGACAGAGTAGGGCACAGGGTGGGAGCCCTGGCCAAGCAAGGCCAGGCCTGACAGGTGGTGTCCTAGTCCCCCAGGGCTGGACATCCCACAAAGCCCCTCTCCAGACGGCTCTGCCTCAGGTGACCCACCCTCCCCAGAAGTGCGTGCCAACCACACTCTTGCACGGGTGTGTGATGCCGACTTTTCCGTGGCTGGGTTCCCGCAAGCTTCATGCAGCCTTTGGTTTGATACGCCTGCTAGGCAATGCTCAGAAGCCAGGAGCCTCACTGGGAGCCCGTTATTGGGCTGCTACTTTGGGAAGGGGATGGCCATAGTCCTCCTGGGAGTGGGGAGCCTCTAGGACCACCCAGATCCACAACGAATGGCCCTCAGGTGCCAGAGGGCTGTGGCTGATAGACCTACAAAGCAGCCAGAGGGGCTGGCGGGTACTGAGGCCCAGTGGGAGTAGATAAAGCCGCGTCCACTGGACCATGGGCACTGAGGAGAGATGGGGCTGATCCAGGCCTGCCTCAAGGTCACTGCCTGACCTCTCAAGGGGAAAAAGCAGCTTCAAGAGGGGCTCCACCCAAGCTCCCCAGGGTCTGGTCAACCAGCTGGAGGTGGGTGAGGGACCAAGCCAGTCCCACTTTCCCCCAAGGCAGAGAGGCTAAGCCGGAAATCTCATTAACTGTGCCCAACGCCCTCGCAGGGGCAAGCTCAGAAAGGATGTCAACTCTGCCCTCCCTCCTACCCAAAAGAGCTAATTCCCTCTGAGCCTCCTGGAGACACCTGCACCCCTTCAGGTGAAATGCAAGGGGTTTACCCGCCTCAAATAACCCAGTGCTTGCGGTACCAGAGGCTCCCACGAGGTGGCGATGACGCTCCGGGATTTCTTCATTGCAGTCTCACAGCATAATAAAGGCTGCCTGTGCCGGGGTCTTGGGGACTCCCCTGTCCCAGAACAGTTGAGGTCGTTGAGTCCCCTCGTTGGCTTCCTTTCTTCACTTTCCTGGCATTTGCAAACCTTGTGACTTCAGGATGTCAGGACTTAATTTGGATGGGGGGGTAGGTGTGGCTACGGGGTCGGGGCTGGCGCTCAGGCCTCTTCGCTGCGGGTCCACCCTGCCAACTCGGGAGGTCCCCGTCCTCCTGGCCTCCTTGCTGGAGGGGGCAGGCTGGTCAGCGCAGCTCTGAGGCGCCGCGTCTCTTTCAGGTGCCGGTGAGTCCGGGAAGAGCACCATCGTCAAGCAGATGAAGTGAGTGCCCCTGCCTGTCCCGAGGCCCCTGGGTCTGGGTCCTTCCCCACTTCCCCACGAGGCGCTGATTCTGCTCTCCTCGGCCTCAGGATTATCCACCAGGACGGGTACTCGCTGGAAGAGTGCCTCGAGTTTATCGCCATCATCTACGGCAACACGTTGCAGTCCATCCTGGCCATCGTACGCGCCATGACCACACTCAACATCCAGTACGGAGACTCTGCACGCCAGGTGTGCCAGGAGGCGGGCTGAGCGGGCCTCTGGGGACTCGAGGCTCGCGGCTGGGCCCGAGTCCCTGGCCGCCACCAGCCACTCTCACCCTGCCCCCAGGACGACGCCCGGAAGCTGATGCACATGGCAGACACTATCGAGGAGGGCACGATGCCCAAGGAGATGTCGGACATCATCCAGCGGCTGTGGAAGGACTCCGGTATCCAGGCCTGTTTTGAGCGCGCCTCGGAGTACCAGCTCAACGACTCGGCGGGCTAGTGAGCGCGCGGGCAGCGCGGGGCGCGGGGCGCGGGGCGCAGGGGGCCCTCCACGCCTCCCCACCCACCTACGGCCGGGTCTCGCGCAGCTACCTCTCCGACCTGGAGCGCCTGGTAACCCCGGGCTACGTGCCCACCGAGCAGGACGTGCTGCGCTCGCGAGTCAAGACCACTGGCATCATCGAGACGCAGTTCTCCTTCAAGGATCTCAACTTCCGGTACGACCCATACGCTAGCCCAGGAGGTCACTGCCCCAGGCCCCGTCCTGCCCCGGGGACCCCATCCCTGCGATAGACCCTGCCCCTTCCCTGATACCCCGCCAGCAGAAAGGGTGGTAGTCCCGGCCGAGAGCTCCCCGACCAGCACAGGGCGAAGGGATGTTGCCTGTGGGGCCCGGGGCGCAGGTTCAGGCCCCCGCGGCCCCGCAGGATGTTCGATGTGGGCGGGCAGCGCTCGGAGCGCAAGAAGTGGATCCACTGCTTCGAGGGCGTGACCTGCATCATCTTCATCGCGGCGCTGAGCGCCTACGACATGGTGCTAGTGGAGGACGACGAAGTGGTGCGTGCCAGGCAGGGCCTGTGTTCCAGGGGGGCGAGGAGGAGCTGCTGGTCCCTGGAGGCGGAGACCGCGCGCTGGGCTGGGGGAGGGCACGGGAGGGGATGCCTGTCCCGGGCGGCCTGAGGAGGCCCGGAGGCGTTCAGCAGGCCCATCTGGGGCAGTGCGGGGAGCCCTCTGAGAGCCAGCTGAGCGGGAAGCCCCGCGTGCCCGGGAGCCCAGAGAGCAGGTGCTGCGGGTCGGACGCTACCCCGGGTGCCCAACAGCTGCTGCCCTCCTCAGAACCGCATGCACGAGAGCCTGCACCTGTTCAACAGCATCTGCAACCACCGCTACTTCGCCACGACGTCCATCGTGCTCTTCCTTAACAAGAAGGACGTCTTCTTCGAGAAGATCAAGAAGGCGCACCTCAGCATCTGTTTCCCGGACTACGATGGTGAGAAGTCCGCAAGGCCGCCAGGCGGCGCCCCCGCCCCACGATCGCGGCGCGCACCCCCCGCACGGGGAAGGAAGGGCTGAGCAGAGTGAGAGCTCCCGCCCCCGCAGGACCCAACACCTACGAGGACGCCGGCAACTACATCAAGGTGCAGTTCCTCGAGCTCAACATGCGGCGCGACGTGAAGGAGATCTATTCCCACATGACGTGCGCCACCGACACGCAGAACGTCAAATTTGTCTTCGACGCTGTCACCGACATCATCATCAAGGAGAACCTCAAAGACTGTGGCCTCTTCTGAGGTAGGTCGCTGCCCTCTCCAGGCTCTTGCCTCAATACCCCAGCCCCGTCCAGCTCCCCACCCCACACCACGGCCCTGGAGCCTCACCCCCAAATCCTGGAGCCTACTGCCTCCAGGCCCCACCCCAGCTCCTCAGGCTCCACCCCACCGACAGAGGCCCCGCCCCACCCCACAAGTCCCACCCATTGAATTTCTTTTGGCCCCGCCCCAAGACCTCAGGTGTCACAGCTTCCAGGGCCGCCCCACCACACACAATGCCTAAACCCATTTATTTTGGGTCTCAGGGATGCTGACTGGGTTTCCTTTTCACAGGTGCCTGAATTCATGCGTGTCAGTCACCCTGAGACCTGGTAGCCCTAGCTGCCTTGCAGCCCCAAACCCCAGGACCCTATCAGCCCCCTGGGACTCCCTGGCCCCAACCTGCCACCTCACCAAAGCTCTGAGCCCTGCTAGCCTTGAGGCGCGGACCCTCCCCCATACCTCCCACAGTATCCCAGCGCCTCATGCCCCCAACCCCAAGCCCTGCCCTTCACCGCCCGGCTGCACTGGCCTCTAGGACTCACAGCAGCCAGCCCCAGCTAGGAACGGGCAGGACTTGGGGCAGCTGAAGCTCACGGTGACTCAGCAGTGCCCAACTGACCAATCTCCCGCAGCTCTCCTGCCCCTGGGGGCCCACGACTCACCTGGTGGGC
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TAGCCCCCAAATCCCACTAAGCAGCCCCACCAGGGATTGCACAGGTCCGTAGAGAGCCAGTTGATTGCAGGTCCTCCTGGGGCCAGAAGGGTGCCTGGGAGGCCAGGTTCTGGGGATCCCCTCCATCCAGAAGAACCACCTGCTCACTCTGTCCCTTCGCCTGCTGCTGGGACCATGGGGGCTGGGGCCAGTGCTGAGGAGAAGCACTCCAGGGAGCTGGAAAAGAAGCTGAAAGAGGACGCTGAGAAGGATGCTCGAACCGTGAAGCTGCTGCTTCTGGGTAGGGGTGTGGGCCCAGGTGGGGCCACTGCCACCAGGTCATTGGTCTGGAGGCAGGCAGGCAGCCCTTCTGTGAAGCAAGGATTCCCTGGGAAGCAGTATGAGCCTGTGACAGAGTAGGGCACAGGGTGGGAGCCCTGGCCAAGCAAGGCCAGGCCTGACAGGTGGTGTCCTAGTCCCCCAGGGCTGGACATCCCACAAAGCCCCTCTCCAGACGGCTCTGCCTCAGGTGACCCACCCTCCCCAGAAGTGCGTGCCAACCACACTCTTGCACGGGTGTGTGATGCCGACTTTTCCGTGGCTGGGTTCCCGCAAGCTTCATGCAGCCTTTGGTTTGATACGCCTGCTAGGCAATGCTCAGAAGCCAGGAGCCTCACTGGGAGCCCGTTATTGGGCTGCTACTTTGGGAAGGGGATGGCCATAGTCCTCCTGGGAGTGGGGAGCCTCTAGGACCACCCAGATCCACAACGAATGGCCCTCAGGTGCCAGAGGGCTGTGGCTGATAGACCTACAAAGCAGCCAGAGGGGCTGGCGGGTACTGAGGCCCAGTGGGAGTAGATAAAGCCGCGTCCACTGGACCATGGGCACTGAGGAGAGATGGGGCTGATCCAGGCCTGCCTCAAGGTCACTGCCTGACCTCTCAAGGGGAAAAAGCAGCTTCAAGAGGGGCTCCACCCAAGCTCCCCAGGGTCTGGTCAACCAGCTGGAGGTGGGTGAGGGACCAAGCCAGTCCCACTTTCCCCCAAGGCAGAGAGGCTAAGCCGGAAATCTCATTAACTGTGCCCAACGCCCTCGCAGGGGCAAGCTCAGAAAGGATGTCAACTCTGCCCTCCCTCCTACCCAAAAGAGCTAATTCCCTCTGAGCCTCCTGGAGACACCTGCACCCCTTCAGGTGAAATGCAAGGGGTTTACCCGCCTCAAATAACCCAGTGCTTGCGGTACCAGAGGCTCCCACGAGGTGGCGATGACGCTCCGGGATTTCTTCATTGCAGTCTCACAGCATAATAAAGGCTGCCTGTGCCGGGGTCTTGGGGACTCCCCTGTCCCAGAACAGTTGAGGTCGTTGAGTCCCCTCGTTGGCTTCCTTTCTTCACTTTCCTGGCATTTGCAAACCTTGTGACTTCAGGATGTCAGGACTTAATTTGGATGGGGGGGTAGGTGTGGCTACGGGGTCGGGGCTGGCGCTCAGGCCTCTTCGCTGCGGGTCCACCCTGCCAACTCGGGAGGTCCCCGTCCTCCTGGCCTCCTTGCTGGAGGGGGCAGGCTGGTCAGCGCAGCTCTGAGGCGCCGCGTCTCTTTCAGGTGCCGGTGAGTCCGGGAAGAGCACCATCGTCAAGCAGATGAAGTGAGTGCCCCTGCCTGTCCCGAGGCCCCTGGGTCTGGGTCCTTCCCCACTTCCCCACGAGGCGCTGATTCTGCTCTCCTCGGCCTCAGGATTATCCACCAGGACGGGTACTCGCTGGAAGAGTGCCTCGAGTTTATCGCCATCATCTACGGCAACACGTTGCAGTCCATCCTGGCCATCGTACGCGCCATGACCACACTCAACATCCAGTACGGAGACTCTGCACGCCAGGTGTGCCAGGAGGCGGGCTGAGCGGGCCTCTGGGGACTCGAGGCTCGCGGCTGGGCCCGAGTCCCTGGCCGCCACCAGCCACTCTCACCCTGCCCCCAGGACGACGCCCGGAAGCTGATGCACATGGCAGACACTATCGAGGAGGGCACGATGCCCAAGGAGATGTCGGACATCATCCAGCGGCTGTGGAAGGGCTCCGGTATCCAGGCCTGTTTTGAGCGCGCCTCGGAGTACCAGCTCAACGACTCGGCGGGCTAGTGAGCGCGCGGGCAGCGCGGGGCGCGGGGCGCGGGGCGCAGGGGGCCCTCCACGCCTCCCCACCCACCTACGGCCGGGTCTCGCGCAGCTACCTCTCCGACCTGGAGCGCCTGGTAACCCCGGGCTACGTGCCCACCGAGCAGGACGTGCTGCGCTCGCGAGTCAAGACCACTGGCATCATCGAGACGCAGTTCTCCTTCAAGGATCTCAACTTCCGGTACGACCCATACGCTAGCCCAGGAGGTCACTGCCCCAGGCCCCGTCCTGCCCCGGGGACCCCATCCCTGCGATAGACCCTGCCCCTTCCCTGATACCCCGCCAGCAGAAAGGGTGGTAGTCCCGGCCGAGAGCTCCCCGACCAGCACAGGGCGAAGGGATGTTGCCTGTGGGGCCCGGGGCGCAGGTTCAGGCCCCCGCGGCCCCGCAGGATGTTCGATGTGGGCGGGCAGCGCTCGGAGCGCAAGAAGTGGATCCACTGCTTCGAGGGCGTGACCTGCATCATCTTCATCGCGGCGCTGAGCGCCTACGACATGGTGCTAGTGGAGGACGACGAAGTGGTGCGTGCCAGGCAGGGCCTGTGTTCCAGGGGGGCGAGGAGGAGCTGCTGGTCCCTGGAGGCGGAGACCGCGCGCTGGGCTGGGGGAGGGCACGGGAGGGGATGCCTGTCCCGGGCGGCCTGAGGAGGCCCGGAGGCGTTCAGCAGGCCCATCTGGGGCAGTGCGGGGAGCCCTCTGAGAGCCAGCTGAGCGGGAAGCCCCGCGTGCCCGGGAGCCCAGAGAGCAGGTGCTGCGGGTCGGACGCTACCCCGGGTGCCCAACAGCTGCTGCCCTCCTCAGAACCGCATGCACGAGAGCCTGCACCTGTTCAACAGCATCTGCAACCACCGCTACTTCGCCACGACGTCCATCGTGCTCTTCCTTAACAAGAAGGACGTCTTCTTCGAGAAGATCAAGAAGGCGCACCTCAGCATCTGTTTCCCGGACTACGATGGTGAGAAGTCCGCAAGGCCGCCAGGCGGCGCCCCCGCCCCACGATCGCGGCGCGCACCCCCCGCACGGGGAAGGAAGGGCTGAGCAGAGTGAGAGCTCCCGCCCCCGCAGGACCCAACACCTACGAGGACGCCGGCAACTACATCAAGGTGCAGTTCCTCGAGCTCAACATGCGGCGCGACGTGAAGGAGATCTATTCCCACATGACGTGCGCCACCGACACGCAGAACGTCAAATTTGTCTTCGACGCTGTCACCGACATCATCATCAAGGAGAACCTCAAAGACTGTGGCCTCTTCTGAGGTAGGTCGCTGCCCTCTCCAGGCTCTTGCCTCAATACCCCAGCCCCGTCCAGCTCCCCACCCCACACCACGGCCCTGGAGCCTCACCCCCAAATCCTGGAGCCTACTGCCTCCAGGCCCCACCCCAGCTCCTCAGGCTCCACCCCACCGACAGAGGCCCCGCCCCACCCCACAAGTCCCACCCATTGAATTTCTTTTGGCCCCGCCCCAAGACCTCAGGTGTCACAGCTTCCAGGGCCGCCCCACCACACACAATGCCTAAACCCATTTATTTTGGGTCTCAGGGATGCTGACTGGGTTTCCTTTTCACAGGTGCCTGAATTCATGCGTGTCAGTCACCCTGAGACCTGGTAGCCCTAGCTGCCTTGCAGCCCCAAACCCCAGGACCCTATCAGCCCCCTGGGACTCCCTGGCCCCAACCTGCCACCTCACCAAAGCTCTGAGCCCTGCTAGCCTTGAGGCGCGGACCCTCCCCCATACCTCCCACAGTATCCCAGCGCCTCATGCCCCCAACCCCAAGCCCTGCCCTTCACCGCCCGGCTGCACTGGCCTCTAGGACTCACAGCAGCCAGCCCCAGCTAGGAACGGGCAGGACTTGGGGCAGCTGAAGCTCACGGTGACTCAGCAGTGCCCAACTGACCAATCTCCCGCAGCTCTCCTGCCCCTGGGGGCCCACGACTCACCTGGTGGGC
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Task1_train_7038
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A mutation in GNAT1 (G protein subunit alpha transducin 1), located on Chromosome 3, is being studied. Determine whether it’s pathogenic or benign, and specify the linked disease.
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Pathogenic; Retinitis pigmentosa
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CTGCTGGGACCATGGGGGCTGGGGCCAGTGCTGAGGAGAAGCACTCCAGGGAGCTGGAAAAGAAGCTGAAAGAGGACGCTGAGAAGGATGCTCGAACCGTGAAGCTGCTGCTTCTGGGTAGGGGTGTGGGCCCAGGTGGGGCCACTGCCACCAGGTCATTGGTCTGGAGGCAGGCAGGCAGCCCTTCTGTGAAGCAAGGATTCCCTGGGAAGCAGTATGAGCCTGTGACAGAGTAGGGCACAGGGTGGGAGCCCTGGCCAAGCAAGGCCAGGCCTGACAGGTGGTGTCCTAGTCCCCCAGGGCTGGACATCCCACAAAGCCCCTCTCCAGACGGCTCTGCCTCAGGTGACCCACCCTCCCCAGAAGTGCGTGCCAACCACACTCTTGCACGGGTGTGTGATGCCGACTTTTCCGTGGCTGGGTTCCCGCAAGCTTCATGCAGCCTTTGGTTTGATACGCCTGCTAGGCAATGCTCAGAAGCCAGGAGCCTCACTGGGAGCCCGTTATTGGGCTGCTACTTTGGGAAGGGGATGGCCATAGTCCTCCTGGGAGTGGGGAGCCTCTAGGACCACCCAGATCCACAACGAATGGCCCTCAGGTGCCAGAGGGCTGTGGCTGATAGACCTACAAAGCAGCCAGAGGGGCTGGCGGGTACTGAGGCCCAGTGGGAGTAGATAAAGCCGCGTCCACTGGACCATGGGCACTGAGGAGAGATGGGGCTGATCCAGGCCTGCCTCAAGGTCACTGCCTGACCTCTCAAGGGGAAAAAGCAGCTTCAAGAGGGGCTCCACCCAAGCTCCCCAGGGTCTGGTCAACCAGCTGGAGGTGGGTGAGGGACCAAGCCAGTCCCACTTTCCCCCAAGGCAGAGAGGCTAAGCCGGAAATCTCATTAACTGTGCCCAACGCCCTCGCAGGGGCAAGCTCAGAAAGGATGTCAACTCTGCCCTCCCTCCTACCCAAAAGAGCTAATTCCCTCTGAGCCTCCTGGAGACACCTGCACCCCTTCAGGTGAAATGCAAGGGGTTTACCCGCCTCAAATAACCCAGTGCTTGCGGTACCAGAGGCTCCCACGAGGTGGCGATGACGCTCCGGGATTTCTTCATTGCAGTCTCACAGCATAATAAAGGCTGCCTGTGCCGGGGTCTTGGGGACTCCCCTGTCCCAGAACAGTTGAGGTCGTTGAGTCCCCTCGTTGGCTTCCTTTCTTCACTTTCCTGGCATTTGCAAACCTTGTGACTTCAGGATGTCAGGACTTAATTTGGATGGGGGGGTAGGTGTGGCTACGGGGTCGGGGCTGGCGCTCAGGCCTCTTCGCTGCGGGTCCACCCTGCCAACTCGGGAGGTCCCCGTCCTCCTGGCCTCCTTGCTGGAGGGGGCAGGCTGGTCAGCGCAGCTCTGAGGCGCCGCGTCTCTTTCAGGTGCCGGTGAGTCCGGGAAGAGCACCATCGTCAAGCAGATGAAGTGAGTGCCCCTGCCTGTCCCGAGGCCCCTGGGTCTGGGTCCTTCCCCACTTCCCCACGAGGCGCTGATTCTGCTCTCCTCGGCCTCAGGATTATCCACCAGGACGGGTACTCGCTGGAAGAGTGCCTCGAGTTTATCGCCATCATCTACGGCAACACGTTGCAGTCCATCCTGGCCATCGTACGCGCCATGACCACACTCAACATCCAGTACGGAGACTCTGCACGCCAGGTGTGCCAGGAGGCGGGCTGAGCGGGCCTCTGGGGACTCGAGGCTCGCGGCTGGGCCCGAGTCCCTGGCCGCCACCAGCCACTCTCACCCTGCCCCCAGGACGACGCCCGGAAGCTGATGCACATGGCAGACACTATCGAGGAGGGCACGATGCCCAAGGAGATGTCGGACATCATCCAGCGGCTGTGGAAGGACTCCGGTATCCAGGCCTGTTTTGAGCGCGCCTCGGAGTACCAGCTCAACGACTCGGCGGGCTAGTGAGCGCGCGGGCAGCGCGGGGCGCGGGGCGCGGGGCGCAGGGGGCCCTCCACGCCTCCCCACCCACCTACGGCCGGGTCTCGCGCAGCTACCTCTCCGACCTGGAGCGCCTGGTAACCCCGGGCTACGTGCCCACCGAGCAGGACGTGCTGCGCTCGCGAGTCAAGACCACTGGCATCATCGAGACGCAGTTCTCCTTCAAGGATCTCAACTTCCGGTACGACCCATACGCTAGCCCAGGAGGTCACTGCCCCAGGCCCCGTCCTGCCCCGGGGACCCCATCCCTGCGATAGACCCTGCCCCTTCCCTGATACCCCGCCAGCAGAAAGGGTGGTAGTCCCGGCCGAGAGCTCCCCGACCAGCACAGGGCGAAGGGATGTTGCCTGTGGGGCCCGGGGCGCAGGTTCAGGCCCCCGCGGCCCCGCAGGATGTTCGATGTGGGCGGGCAGCGCTCGGAGCGCAAGAAGTGGATCCACTGCTTCGAGGGCGTGACCTGCATCATCTTCATCGCGGCGCTGAGCGCCTACGACATGGTGCTAGTGGAGGACGACGAAGTGGTGCGTGCCAGGCAGGGCCTGTGTTCCAGGGGGGCGAGGAGGAGCTGCTGGTCCCTGGAGGCGGAGACCGCGCGCTGGGCTGGGGGAGGGCACGGGAGGGGATGCCTGTCCCGGGCGGCCTGAGGAGGCCCGGAGGCGTTCAGCAGGCCCATCTGGGGCAGTGCGGGGAGCCCTCTGAGAGCCAGCTGAGCGGGAAGCCCCGCGTGCCCGGGAGCCCAGAGAGCAGGTGCTGCGGGTCGGACGCTACCCCGGGTGCCCAACAGCTGCTGCCCTCCTCAGAACCGCATGCACGAGAGCCTGCACCTGTTCAACAGCATCTGCAACCACCGCTACTTCGCCACGACGTCCATCGTGCTCTTCCTTAACAAGAAGGACGTCTTCTTCGAGAAGATCAAGAAGGCGCACCTCAGCATCTGTTTCCCGGACTACGATGGTGAGAAGTCCGCAAGGCCGCCAGGCGGCGCCCCCGCCCCACGATCGCGGCGCGCACCCCCCGCACGGGGAAGGAAGGGCTGAGCAGAGTGAGAGCTCCCGCCCCCGCAGGACCCAACACCTACGAGGACGCCGGCAACTACATCAAGGTGCAGTTCCTCGAGCTCAACATGCGGCGCGACGTGAAGGAGATCTATTCCCACATGACGTGCGCCACCGACACGCAGAACGTCAAATTTGTCTTCGACGCTGTCACCGACATCATCATCAAGGAGAACCTCAAAGACTGTGGCCTCTTCTGAGGTAGGTCGCTGCCCTCTCCAGGCTCTTGCCTCAATACCCCAGCCCCGTCCAGCTCCCCACCCCACACCACGGCCCTGGAGCCTCACCCCCAAATCCTGGAGCCTACTGCCTCCAGGCCCCACCCCAGCTCCTCAGGCTCCACCCCACCGACAGAGGCCCCGCCCCACCCCACAAGTCCCACCCATTGAATTTCTTTTGGCCCCGCCCCAAGACCTCAGGTGTCACAGCTTCCAGGGCCGCCCCACCACACACAATGCCTAAACCCATTTATTTTGGGTCTCAGGGATGCTGACTGGGTTTCCTTTTCACAGGTGCCTGAATTCATGCGTGTCAGTCACCCTGAGACCTGGTAGCCCTAGCTGCCTTGCAGCCCCAAACCCCAGGACCCTATCAGCCCCCTGGGACTCCCTGGCCCCAACCTGCCACCTCACCAAAGCTCTGAGCCCTGCTAGCCTTGAGGCGCGGACCCTCCCCCATACCTCCCACAGTATCCCAGCGCCTCATGCCCCCAACCCCAAGCCCTGCCCTTCACCGCCCGGCTGCACTGGCCTCTAGGACTCACAGCAGCCAGCCCCAGCTAGGAACGGGCAGGACTTGGGGCAGCTGAAGCTCACGGTGACTCAGCAGTGCCCAACTGACCAATCTCCCGCAGCTCTCCTGCCCCTGGGGGCCCACGACTCACCTGGTGGGCCTGGGCTCAGCAAACAGCCCTCCCTCCCAGTATTTCATCAAGGACAGGGAATATCCCTCCCACACACAGGCCAGCTGCTCACCCTGCCACCTCCATGTGACAAGTTTGACACCTGTCTACCCAGAGCCAGTGACTGTCCCTCCCAGCAGCCTCCAAAGGGTCC
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CTGCTGGGACCATGGGGGCTGGGGCCAGTGCTGAGGAGAAGCACTCCAGGGAGCTGGAAAAGAAGCTGAAAGAGGACGCTGAGAAGGATGCTCGAACCGTGAAGCTGCTGCTTCTGGGTAGGGGTGTGGGCCCAGGTGGGGCCACTGCCACCAGGTCATTGGTCTGGAGGCAGGCAGGCAGCCCTTCTGTGAAGCAAGGATTCCCTGGGAAGCAGTATGAGCCTGTGACAGAGTAGGGCACAGGGTGGGAGCCCTGGCCAAGCAAGGCCAGGCCTGACAGGTGGTGTCCTAGTCCCCCAGGGCTGGACATCCCACAAAGCCCCTCTCCAGACGGCTCTGCCTCAGGTGACCCACCCTCCCCAGAAGTGCGTGCCAACCACACTCTTGCACGGGTGTGTGATGCCGACTTTTCCGTGGCTGGGTTCCCGCAAGCTTCATGCAGCCTTTGGTTTGATACGCCTGCTAGGCAATGCTCAGAAGCCAGGAGCCTCACTGGGAGCCCGTTATTGGGCTGCTACTTTGGGAAGGGGATGGCCATAGTCCTCCTGGGAGTGGGGAGCCTCTAGGACCACCCAGATCCACAACGAATGGCCCTCAGGTGCCAGAGGGCTGTGGCTGATAGACCTACAAAGCAGCCAGAGGGGCTGGCGGGTACTGAGGCCCAGTGGGAGTAGATAAAGCCGCGTCCACTGGACCATGGGCACTGAGGAGAGATGGGGCTGATCCAGGCCTGCCTCAAGGTCACTGCCTGACCTCTCAAGGGGAAAAAGCAGCTTCAAGAGGGGCTCCACCCAAGCTCCCCAGGGTCTGGTCAACCAGCTGGAGGTGGGTGAGGGACCAAGCCAGTCCCACTTTCCCCCAAGGCAGAGAGGCTAAGCCGGAAATCTCATTAACTGTGCCCAACGCCCTCGCAGGGGCAAGCTCAGAAAGGATGTCAACTCTGCCCTCCCTCCTACCCAAAAGAGCTAATTCCCTCTGAGCCTCCTGGAGACACCTGCACCCCTTCAGGTGAAATGCAAGGGGTTTACCCGCCTCAAATAACCCAGTGCTTGCGGTACCAGAGGCTCCCACGAGGTGGCGATGACGCTCCGGGATTTCTTCATTGCAGTCTCACAGCATAATAAAGGCTGCCTGTGCCGGGGTCTTGGGGACTCCCCTGTCCCAGAACAGTTGAGGTCGTTGAGTCCCCTCGTTGGCTTCCTTTCTTCACTTTCCTGGCATTTGCAAACCTTGTGACTTCAGGATGTCAGGACTTAATTTGGATGGGGGGGTAGGTGTGGCTACGGGGTCGGGGCTGGCGCTCAGGCCTCTTCGCTGCGGGTCCACCCTGCCAACTCGGGAGGTCCCCGTCCTCCTGGCCTCCTTGCTGGAGGGGGCAGGCTGGTCAGCGCAGCTCTGAGGCGCCGCGTCTCTTTCAGGTGCCGGTGAGTCCGGGAAGAGCACCATCGTCAAGCAGATGAAGTGAGTGCCCCTGCCTGTCCCGAGGCCCCTGGGTCTGGGTCCTTCCCCACTTCCCCACGAGGCGCTGATTCTGCTCTCCTCGGCCTCAGGATTATCCACCAGGACGGGTACTCGCTGGAAGAGTGCCTCGAGTTTATCGCCATCATCTACGGCAACACGTTGCAGTCCATCCTGGCCATCGTACGCGCCATGACCACACTCAACATCCAGTACGGAGACTCTGCACGCCAGGTGTGCCAGGAGGCGGGCTGAGCGGGCCTCTGGGGACTCGAGGCTCGCGGCTGGGCCCGAGTCCCTGGCCGCCACCAGCCACTCTCACCCTGCCCCCAGGACGACGCCCGGAAGCTGATGCACATGGCAGACACTATCGAGGAGGGCACGATGCCCAAGGAGATGTCGGACATCATCCAGCGGCTGTGGAAGGACTCCGGTATCCAGGCCTGTTTTGAGCGCGCCTCGGAGTACCAGCTCAACGACTCGGCGGGCTAGTGAGCGCGCGGGCAGCGCGGGGCGCGGGGCGCGGGGCGCAGGGGGCCCTCCACGCCTCCCCACCCACCTACGGCCGGGTCTCGCGCAGCTACCTCTCCTACCTGGAGCGCCTGGTAACCCCGGGCTACGTGCCCACCGAGCAGGACGTGCTGCGCTCGCGAGTCAAGACCACTGGCATCATCGAGACGCAGTTCTCCTTCAAGGATCTCAACTTCCGGTACGACCCATACGCTAGCCCAGGAGGTCACTGCCCCAGGCCCCGTCCTGCCCCGGGGACCCCATCCCTGCGATAGACCCTGCCCCTTCCCTGATACCCCGCCAGCAGAAAGGGTGGTAGTCCCGGCCGAGAGCTCCCCGACCAGCACAGGGCGAAGGGATGTTGCCTGTGGGGCCCGGGGCGCAGGTTCAGGCCCCCGCGGCCCCGCAGGATGTTCGATGTGGGCGGGCAGCGCTCGGAGCGCAAGAAGTGGATCCACTGCTTCGAGGGCGTGACCTGCATCATCTTCATCGCGGCGCTGAGCGCCTACGACATGGTGCTAGTGGAGGACGACGAAGTGGTGCGTGCCAGGCAGGGCCTGTGTTCCAGGGGGGCGAGGAGGAGCTGCTGGTCCCTGGAGGCGGAGACCGCGCGCTGGGCTGGGGGAGGGCACGGGAGGGGATGCCTGTCCCGGGCGGCCTGAGGAGGCCCGGAGGCGTTCAGCAGGCCCATCTGGGGCAGTGCGGGGAGCCCTCTGAGAGCCAGCTGAGCGGGAAGCCCCGCGTGCCCGGGAGCCCAGAGAGCAGGTGCTGCGGGTCGGACGCTACCCCGGGTGCCCAACAGCTGCTGCCCTCCTCAGAACCGCATGCACGAGAGCCTGCACCTGTTCAACAGCATCTGCAACCACCGCTACTTCGCCACGACGTCCATCGTGCTCTTCCTTAACAAGAAGGACGTCTTCTTCGAGAAGATCAAGAAGGCGCACCTCAGCATCTGTTTCCCGGACTACGATGGTGAGAAGTCCGCAAGGCCGCCAGGCGGCGCCCCCGCCCCACGATCGCGGCGCGCACCCCCCGCACGGGGAAGGAAGGGCTGAGCAGAGTGAGAGCTCCCGCCCCCGCAGGACCCAACACCTACGAGGACGCCGGCAACTACATCAAGGTGCAGTTCCTCGAGCTCAACATGCGGCGCGACGTGAAGGAGATCTATTCCCACATGACGTGCGCCACCGACACGCAGAACGTCAAATTTGTCTTCGACGCTGTCACCGACATCATCATCAAGGAGAACCTCAAAGACTGTGGCCTCTTCTGAGGTAGGTCGCTGCCCTCTCCAGGCTCTTGCCTCAATACCCCAGCCCCGTCCAGCTCCCCACCCCACACCACGGCCCTGGAGCCTCACCCCCAAATCCTGGAGCCTACTGCCTCCAGGCCCCACCCCAGCTCCTCAGGCTCCACCCCACCGACAGAGGCCCCGCCCCACCCCACAAGTCCCACCCATTGAATTTCTTTTGGCCCCGCCCCAAGACCTCAGGTGTCACAGCTTCCAGGGCCGCCCCACCACACACAATGCCTAAACCCATTTATTTTGGGTCTCAGGGATGCTGACTGGGTTTCCTTTTCACAGGTGCCTGAATTCATGCGTGTCAGTCACCCTGAGACCTGGTAGCCCTAGCTGCCTTGCAGCCCCAAACCCCAGGACCCTATCAGCCCCCTGGGACTCCCTGGCCCCAACCTGCCACCTCACCAAAGCTCTGAGCCCTGCTAGCCTTGAGGCGCGGACCCTCCCCCATACCTCCCACAGTATCCCAGCGCCTCATGCCCCCAACCCCAAGCCCTGCCCTTCACCGCCCGGCTGCACTGGCCTCTAGGACTCACAGCAGCCAGCCCCAGCTAGGAACGGGCAGGACTTGGGGCAGCTGAAGCTCACGGTGACTCAGCAGTGCCCAACTGACCAATCTCCCGCAGCTCTCCTGCCCCTGGGGGCCCACGACTCACCTGGTGGGCCTGGGCTCAGCAAACAGCCCTCCCTCCCAGTATTTCATCAAGGACAGGGAATATCCCTCCCACACACAGGCCAGCTGCTCACCCTGCCACCTCCATGTGACAAGTTTGACACCTGTCTACCCAGAGCCAGTGACTGTCCCTCCCAGCAGCCTCCAAAGGGTCC
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Task1_train_7039
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This alteration occurs within gene GNAT1 (G protein subunit alpha transducin 1) located on Chromosome 3. Is it associated with a disease or is it a benign variant?
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Pathogenic; Congenital stationary night blindness autosomal dominant 3
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ACCCACCCTCCCCAGAAGTGCGTGCCAACCACACTCTTGCACGGGTGTGTGATGCCGACTTTTCCGTGGCTGGGTTCCCGCAAGCTTCATGCAGCCTTTGGTTTGATACGCCTGCTAGGCAATGCTCAGAAGCCAGGAGCCTCACTGGGAGCCCGTTATTGGGCTGCTACTTTGGGAAGGGGATGGCCATAGTCCTCCTGGGAGTGGGGAGCCTCTAGGACCACCCAGATCCACAACGAATGGCCCTCAGGTGCCAGAGGGCTGTGGCTGATAGACCTACAAAGCAGCCAGAGGGGCTGGCGGGTACTGAGGCCCAGTGGGAGTAGATAAAGCCGCGTCCACTGGACCATGGGCACTGAGGAGAGATGGGGCTGATCCAGGCCTGCCTCAAGGTCACTGCCTGACCTCTCAAGGGGAAAAAGCAGCTTCAAGAGGGGCTCCACCCAAGCTCCCCAGGGTCTGGTCAACCAGCTGGAGGTGGGTGAGGGACCAAGCCAGTCCCACTTTCCCCCAAGGCAGAGAGGCTAAGCCGGAAATCTCATTAACTGTGCCCAACGCCCTCGCAGGGGCAAGCTCAGAAAGGATGTCAACTCTGCCCTCCCTCCTACCCAAAAGAGCTAATTCCCTCTGAGCCTCCTGGAGACACCTGCACCCCTTCAGGTGAAATGCAAGGGGTTTACCCGCCTCAAATAACCCAGTGCTTGCGGTACCAGAGGCTCCCACGAGGTGGCGATGACGCTCCGGGATTTCTTCATTGCAGTCTCACAGCATAATAAAGGCTGCCTGTGCCGGGGTCTTGGGGACTCCCCTGTCCCAGAACAGTTGAGGTCGTTGAGTCCCCTCGTTGGCTTCCTTTCTTCACTTTCCTGGCATTTGCAAACCTTGTGACTTCAGGATGTCAGGACTTAATTTGGATGGGGGGGTAGGTGTGGCTACGGGGTCGGGGCTGGCGCTCAGGCCTCTTCGCTGCGGGTCCACCCTGCCAACTCGGGAGGTCCCCGTCCTCCTGGCCTCCTTGCTGGAGGGGGCAGGCTGGTCAGCGCAGCTCTGAGGCGCCGCGTCTCTTTCAGGTGCCGGTGAGTCCGGGAAGAGCACCATCGTCAAGCAGATGAAGTGAGTGCCCCTGCCTGTCCCGAGGCCCCTGGGTCTGGGTCCTTCCCCACTTCCCCACGAGGCGCTGATTCTGCTCTCCTCGGCCTCAGGATTATCCACCAGGACGGGTACTCGCTGGAAGAGTGCCTCGAGTTTATCGCCATCATCTACGGCAACACGTTGCAGTCCATCCTGGCCATCGTACGCGCCATGACCACACTCAACATCCAGTACGGAGACTCTGCACGCCAGGTGTGCCAGGAGGCGGGCTGAGCGGGCCTCTGGGGACTCGAGGCTCGCGGCTGGGCCCGAGTCCCTGGCCGCCACCAGCCACTCTCACCCTGCCCCCAGGACGACGCCCGGAAGCTGATGCACATGGCAGACACTATCGAGGAGGGCACGATGCCCAAGGAGATGTCGGACATCATCCAGCGGCTGTGGAAGGACTCCGGTATCCAGGCCTGTTTTGAGCGCGCCTCGGAGTACCAGCTCAACGACTCGGCGGGCTAGTGAGCGCGCGGGCAGCGCGGGGCGCGGGGCGCGGGGCGCAGGGGGCCCTCCACGCCTCCCCACCCACCTACGGCCGGGTCTCGCGCAGCTACCTCTCCGACCTGGAGCGCCTGGTAACCCCGGGCTACGTGCCCACCGAGCAGGACGTGCTGCGCTCGCGAGTCAAGACCACTGGCATCATCGAGACGCAGTTCTCCTTCAAGGATCTCAACTTCCGGTACGACCCATACGCTAGCCCAGGAGGTCACTGCCCCAGGCCCCGTCCTGCCCCGGGGACCCCATCCCTGCGATAGACCCTGCCCCTTCCCTGATACCCCGCCAGCAGAAAGGGTGGTAGTCCCGGCCGAGAGCTCCCCGACCAGCACAGGGCGAAGGGATGTTGCCTGTGGGGCCCGGGGCGCAGGTTCAGGCCCCCGCGGCCCCGCAGGATGTTCGATGTGGGCGGGCAGCGCTCGGAGCGCAAGAAGTGGATCCACTGCTTCGAGGGCGTGACCTGCATCATCTTCATCGCGGCGCTGAGCGCCTACGACATGGTGCTAGTGGAGGACGACGAAGTGGTGCGTGCCAGGCAGGGCCTGTGTTCCAGGGGGGCGAGGAGGAGCTGCTGGTCCCTGGAGGCGGAGACCGCGCGCTGGGCTGGGGGAGGGCACGGGAGGGGATGCCTGTCCCGGGCGGCCTGAGGAGGCCCGGAGGCGTTCAGCAGGCCCATCTGGGGCAGTGCGGGGAGCCCTCTGAGAGCCAGCTGAGCGGGAAGCCCCGCGTGCCCGGGAGCCCAGAGAGCAGGTGCTGCGGGTCGGACGCTACCCCGGGTGCCCAACAGCTGCTGCCCTCCTCAGAACCGCATGCACGAGAGCCTGCACCTGTTCAACAGCATCTGCAACCACCGCTACTTCGCCACGACGTCCATCGTGCTCTTCCTTAACAAGAAGGACGTCTTCTTCGAGAAGATCAAGAAGGCGCACCTCAGCATCTGTTTCCCGGACTACGATGGTGAGAAGTCCGCAAGGCCGCCAGGCGGCGCCCCCGCCCCACGATCGCGGCGCGCACCCCCCGCACGGGGAAGGAAGGGCTGAGCAGAGTGAGAGCTCCCGCCCCCGCAGGACCCAACACCTACGAGGACGCCGGCAACTACATCAAGGTGCAGTTCCTCGAGCTCAACATGCGGCGCGACGTGAAGGAGATCTATTCCCACATGACGTGCGCCACCGACACGCAGAACGTCAAATTTGTCTTCGACGCTGTCACCGACATCATCATCAAGGAGAACCTCAAAGACTGTGGCCTCTTCTGAGGTAGGTCGCTGCCCTCTCCAGGCTCTTGCCTCAATACCCCAGCCCCGTCCAGCTCCCCACCCCACACCACGGCCCTGGAGCCTCACCCCCAAATCCTGGAGCCTACTGCCTCCAGGCCCCACCCCAGCTCCTCAGGCTCCACCCCACCGACAGAGGCCCCGCCCCACCCCACAAGTCCCACCCATTGAATTTCTTTTGGCCCCGCCCCAAGACCTCAGGTGTCACAGCTTCCAGGGCCGCCCCACCACACACAATGCCTAAACCCATTTATTTTGGGTCTCAGGGATGCTGACTGGGTTTCCTTTTCACAGGTGCCTGAATTCATGCGTGTCAGTCACCCTGAGACCTGGTAGCCCTAGCTGCCTTGCAGCCCCAAACCCCAGGACCCTATCAGCCCCCTGGGACTCCCTGGCCCCAACCTGCCACCTCACCAAAGCTCTGAGCCCTGCTAGCCTTGAGGCGCGGACCCTCCCCCATACCTCCCACAGTATCCCAGCGCCTCATGCCCCCAACCCCAAGCCCTGCCCTTCACCGCCCGGCTGCACTGGCCTCTAGGACTCACAGCAGCCAGCCCCAGCTAGGAACGGGCAGGACTTGGGGCAGCTGAAGCTCACGGTGACTCAGCAGTGCCCAACTGACCAATCTCCCGCAGCTCTCCTGCCCCTGGGGGCCCACGACTCACCTGGTGGGCCTGGGCTCAGCAAACAGCCCTCCCTCCCAGTATTTCATCAAGGACAGGGAATATCCCTCCCACACACAGGCCAGCTGCTCACCCTGCCACCTCCATGTGACAAGTTTGACACCTGTCTACCCAGAGCCAGTGACTGTCCCTCCCAGCAGCCTCCAAAGGGTCCAAAGTCCAAGCTAGCTCTGGCCTGTGTGGCCCCCACATAAATAAATTAGTGGGGAGGGGGCAGACCTGGGGGCCCTTGGGTGCCAGAGTGAGACACAGCAGGACCCTTCCCCAAATACTAGGCTCAGAGCAACCTCCAGCCTTCTCCAGCAGGATCTGCTCCCTGTGTCCTTGGACAGCAGATCCACACACCACTTCCCCACCCACACACAGTACCCTGGGCTGGTTGGACAACAGGATGGTGTGTTAAGGGGTTAAGGGAGGGTACTGTTGACACCAGCTATGGCCAATAGCTGGGCTGTCCTGAGGGGTGGCTGGGGACAGAGTCCAGCTCCCTTGGATCAGCCCA
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ACCCACCCTCCCCAGAAGTGCGTGCCAACCACACTCTTGCACGGGTGTGTGATGCCGACTTTTCCGTGGCTGGGTTCCCGCAAGCTTCATGCAGCCTTTGGTTTGATACGCCTGCTAGGCAATGCTCAGAAGCCAGGAGCCTCACTGGGAGCCCGTTATTGGGCTGCTACTTTGGGAAGGGGATGGCCATAGTCCTCCTGGGAGTGGGGAGCCTCTAGGACCACCCAGATCCACAACGAATGGCCCTCAGGTGCCAGAGGGCTGTGGCTGATAGACCTACAAAGCAGCCAGAGGGGCTGGCGGGTACTGAGGCCCAGTGGGAGTAGATAAAGCCGCGTCCACTGGACCATGGGCACTGAGGAGAGATGGGGCTGATCCAGGCCTGCCTCAAGGTCACTGCCTGACCTCTCAAGGGGAAAAAGCAGCTTCAAGAGGGGCTCCACCCAAGCTCCCCAGGGTCTGGTCAACCAGCTGGAGGTGGGTGAGGGACCAAGCCAGTCCCACTTTCCCCCAAGGCAGAGAGGCTAAGCCGGAAATCTCATTAACTGTGCCCAACGCCCTCGCAGGGGCAAGCTCAGAAAGGATGTCAACTCTGCCCTCCCTCCTACCCAAAAGAGCTAATTCCCTCTGAGCCTCCTGGAGACACCTGCACCCCTTCAGGTGAAATGCAAGGGGTTTACCCGCCTCAAATAACCCAGTGCTTGCGGTACCAGAGGCTCCCACGAGGTGGCGATGACGCTCCGGGATTTCTTCATTGCAGTCTCACAGCATAATAAAGGCTGCCTGTGCCGGGGTCTTGGGGACTCCCCTGTCCCAGAACAGTTGAGGTCGTTGAGTCCCCTCGTTGGCTTCCTTTCTTCACTTTCCTGGCATTTGCAAACCTTGTGACTTCAGGATGTCAGGACTTAATTTGGATGGGGGGGTAGGTGTGGCTACGGGGTCGGGGCTGGCGCTCAGGCCTCTTCGCTGCGGGTCCACCCTGCCAACTCGGGAGGTCCCCGTCCTCCTGGCCTCCTTGCTGGAGGGGGCAGGCTGGTCAGCGCAGCTCTGAGGCGCCGCGTCTCTTTCAGGTGCCGGTGAGTCCGGGAAGAGCACCATCGTCAAGCAGATGAAGTGAGTGCCCCTGCCTGTCCCGAGGCCCCTGGGTCTGGGTCCTTCCCCACTTCCCCACGAGGCGCTGATTCTGCTCTCCTCGGCCTCAGGATTATCCACCAGGACGGGTACTCGCTGGAAGAGTGCCTCGAGTTTATCGCCATCATCTACGGCAACACGTTGCAGTCCATCCTGGCCATCGTACGCGCCATGACCACACTCAACATCCAGTACGGAGACTCTGCACGCCAGGTGTGCCAGGAGGCGGGCTGAGCGGGCCTCTGGGGACTCGAGGCTCGCGGCTGGGCCCGAGTCCCTGGCCGCCACCAGCCACTCTCACCCTGCCCCCAGGACGACGCCCGGAAGCTGATGCACATGGCAGACACTATCGAGGAGGGCACGATGCCCAAGGAGATGTCGGACATCATCCAGCGGCTGTGGAAGGACTCCGGTATCCAGGCCTGTTTTGAGCGCGCCTCGGAGTACCAGCTCAACGACTCGGCGGGCTAGTGAGCGCGCGGGCAGCGCGGGGCGCGGGGCGCGGGGCGCAGGGGGCCCTCCACGCCTCCCCACCCACCTACGGCCGGGTCTCGCGCAGCTACCTCTCCGACCTGGAGCGCCTGGTAACCCCGGGCTACGTGCCCACCGAGCAGGACGTGCTGCGCTCGCGAGTCAAGACCACTGGCATCATCGAGACGCAGTTCTCCTTCAAGGATCTCAACTTCCGGTACGACCCATACGCTAGCCCAGGAGGTCACTGCCCCAGGCCCCGTCCTGCCCCGGGGACCCCATCCCTGCGATAGACCCTGCCCCTTCCCTGATACCCCGCCAGCAGAAAGGGTGGTAGTCCCGGCCGAGAGCTCCCCGACCAGCACAGGGCGAAGGGATGTTGCCTGTGGGGCCCGGGGCGCAGGTTCAGGCCCCCGCGGCCCCGCAGGATGTTCGATGTGGGCGGGGAGCGCTCGGAGCGCAAGAAGTGGATCCACTGCTTCGAGGGCGTGACCTGCATCATCTTCATCGCGGCGCTGAGCGCCTACGACATGGTGCTAGTGGAGGACGACGAAGTGGTGCGTGCCAGGCAGGGCCTGTGTTCCAGGGGGGCGAGGAGGAGCTGCTGGTCCCTGGAGGCGGAGACCGCGCGCTGGGCTGGGGGAGGGCACGGGAGGGGATGCCTGTCCCGGGCGGCCTGAGGAGGCCCGGAGGCGTTCAGCAGGCCCATCTGGGGCAGTGCGGGGAGCCCTCTGAGAGCCAGCTGAGCGGGAAGCCCCGCGTGCCCGGGAGCCCAGAGAGCAGGTGCTGCGGGTCGGACGCTACCCCGGGTGCCCAACAGCTGCTGCCCTCCTCAGAACCGCATGCACGAGAGCCTGCACCTGTTCAACAGCATCTGCAACCACCGCTACTTCGCCACGACGTCCATCGTGCTCTTCCTTAACAAGAAGGACGTCTTCTTCGAGAAGATCAAGAAGGCGCACCTCAGCATCTGTTTCCCGGACTACGATGGTGAGAAGTCCGCAAGGCCGCCAGGCGGCGCCCCCGCCCCACGATCGCGGCGCGCACCCCCCGCACGGGGAAGGAAGGGCTGAGCAGAGTGAGAGCTCCCGCCCCCGCAGGACCCAACACCTACGAGGACGCCGGCAACTACATCAAGGTGCAGTTCCTCGAGCTCAACATGCGGCGCGACGTGAAGGAGATCTATTCCCACATGACGTGCGCCACCGACACGCAGAACGTCAAATTTGTCTTCGACGCTGTCACCGACATCATCATCAAGGAGAACCTCAAAGACTGTGGCCTCTTCTGAGGTAGGTCGCTGCCCTCTCCAGGCTCTTGCCTCAATACCCCAGCCCCGTCCAGCTCCCCACCCCACACCACGGCCCTGGAGCCTCACCCCCAAATCCTGGAGCCTACTGCCTCCAGGCCCCACCCCAGCTCCTCAGGCTCCACCCCACCGACAGAGGCCCCGCCCCACCCCACAAGTCCCACCCATTGAATTTCTTTTGGCCCCGCCCCAAGACCTCAGGTGTCACAGCTTCCAGGGCCGCCCCACCACACACAATGCCTAAACCCATTTATTTTGGGTCTCAGGGATGCTGACTGGGTTTCCTTTTCACAGGTGCCTGAATTCATGCGTGTCAGTCACCCTGAGACCTGGTAGCCCTAGCTGCCTTGCAGCCCCAAACCCCAGGACCCTATCAGCCCCCTGGGACTCCCTGGCCCCAACCTGCCACCTCACCAAAGCTCTGAGCCCTGCTAGCCTTGAGGCGCGGACCCTCCCCCATACCTCCCACAGTATCCCAGCGCCTCATGCCCCCAACCCCAAGCCCTGCCCTTCACCGCCCGGCTGCACTGGCCTCTAGGACTCACAGCAGCCAGCCCCAGCTAGGAACGGGCAGGACTTGGGGCAGCTGAAGCTCACGGTGACTCAGCAGTGCCCAACTGACCAATCTCCCGCAGCTCTCCTGCCCCTGGGGGCCCACGACTCACCTGGTGGGCCTGGGCTCAGCAAACAGCCCTCCCTCCCAGTATTTCATCAAGGACAGGGAATATCCCTCCCACACACAGGCCAGCTGCTCACCCTGCCACCTCCATGTGACAAGTTTGACACCTGTCTACCCAGAGCCAGTGACTGTCCCTCCCAGCAGCCTCCAAAGGGTCCAAAGTCCAAGCTAGCTCTGGCCTGTGTGGCCCCCACATAAATAAATTAGTGGGGAGGGGGCAGACCTGGGGGCCCTTGGGTGCCAGAGTGAGACACAGCAGGACCCTTCCCCAAATACTAGGCTCAGAGCAACCTCCAGCCTTCTCCAGCAGGATCTGCTCCCTGTGTCCTTGGACAGCAGATCCACACACCACTTCCCCACCCACACACAGTACCCTGGGCTGGTTGGACAACAGGATGGTGTGTTAAGGGGTTAAGGGAGGGTACTGTTGACACCAGCTATGGCCAATAGCTGGGCTGTCCTGAGGGGTGGCTGGGGACAGAGTCCAGCTCCCTTGGATCAGCCCA
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Task1_train_7040
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This sequence variant lies in SLC38A3 (solute carrier family 38 member 3) on Chromosome 3. Is it clinically significant, and what condition might it cause if any?
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Pathogenic; Developmental and epileptic encephalopathy 102
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GACCTGTGTATCCTGAGAAAAGCAACAGCAGTGCCTACAATAGAGAGGGTCCTGAGCATGAGCTGTGTGCCAGGCTGGAACCTTAGTTCTCATGTCACCCTGAAGGACAGTACTGAAGGCACGCCCTTTGTTTTGTTTTGTTTTGTTTTGTTTTGTTTGTGAGACGGAGTCTCGCTCAGTCGCCCAGGCTGGAGTACAGTGGCACAATCTTGGCTCACTGCAACCTCTGCCTCCCGGGTTCTTGTGATTCTCCTGCCTCAGTCTCCTGAGTAGCTGAGATTATAGGCGTGTGCCACCATGCCCGGCTAATTTTTTTGTATTTTTAGTAGAGATGGGGTTTCACCATGTTGGTCAGGCTGGTCTCGAACTCCTGACCTGATGATCCACCCACCTCAGCCTCCCAAAGTGCTGGGATTACAGGCGTGAACCACCGCGCCCAGCTGGGCATGCCCATTTTGCAGATGGGGAAAGTGAGACTCAGAGCTGTGGACAAACATTCTTCAGATGTCACTCAGTGGCACCATTGGTAACTCCAGCAGAGGGAGGCAGGGGCCCCATCCCAGGCTGAATGGATTCTGACCCTGGCTCCCGACTCATGTCCCTGCAGGGACTGGTACATGAACGGGAACTACCTGGTAATCCTTGTCTCTGTCACCATCATTCTGCCCCTGGCACTGATGCGGCAGCTTGGTGAGTGTGGAAGGGTCAGAGCCTTGGAGGGGATGTTGGAGGCATACACCATGGGAGGGGCCCCAGGTCTCAGAGTGCTCCCTCCACTTTGCAGGCTACCTGGGCTACTCCAGCGGCTTCTCTCTTAGCTGCATGGTGTTCTTCCTAATTGCAGTGAGTCACCCTCCATGTTGGCTGAGAAAGCGGGCAGCGGGTCTCCTGGGGGAGTTCCCTGTCATCAGGAGGGGGCAGGTGTCTCTGGGAAGCCTGGGCCAGAAGGCAGCTCCACCAGTCCTGATCTAGATGTGGCTTCATGGTGACTTCCCAGGCAGTCCAGCCTGGGAGTCTCTGACACCCTCATCCCTCCCCACTCCAGGTCATCTACAAAAAGTTCCACGTGCCCTGCCCACTGCCCCCCAACTTCAACAACACCACAGGCAACTTCAGCCACGTGGAGATCGTGAAGGAGAAGGTGCAGCTGCAGGTCGAGCCTGAGGCTTCAGCCTTCTGCACTCCCAGCTACTTCACGCTCAACTCACAGGTTCTGACAGGTCAGGGCAAGGCGGGGGCCCAATGAGAGTGGCAGACTGCCTTGACACAGCCCCGTGTTTCCCCAGACAGCATACACCATCCCCATCATGGCCTTCGCCTTCGTCTGCCACCCCGAGGTGCTGCCCATCTATACTGAGCTCAAGGAGTAGGTGTCTGTGGCTGGGAGTGGGGGTGGGGATGCCCTGAGCTGGTTTGGGGAGAATGGATGTGGTCCTGAATGTGGAGAGGGGAGTGACAGGAGCCAAGTCACTTTATCTGAGATGTCCTTGGCAGCCATGAGAGGTGATTATGAGCAAGAAGGAGACTCCCTCAGATGCTGAATGGTGAAAGTATGGTGCCAGAGAGAGCTTGGGGCACATGGGGGTCTCCCAATGTTACCCAGCTTGTCACCAACACCCACCCCCCCACTTCCCCACAGCCCCTCCAAGAAGAAGATGCAGCACATCTCCAACCTGTCCATCGCTGTCATGTACATCATGTACTTCCTGGCTGCCCTCTTCGGCTACCTCACCTTCTACAGTACGGTGGCACCGGTGGGCAGAGGCCTAGGCTAGGCTGGGGGGAAGGGGCTGGTTGTGGCCATGGTGCCCTCCATACCGAGGCGTGTGGTGCCTGGCTGTGCCTTGCCGCTGTGGAGGTGAGTCTGCATGCCAATCCCCACAGTGTTGGGGTCCCCTAGGCAGCTCAGATCCCACCTCCTTCCTGGGGCCACCTACTGACCACCCTCCCTGCCTGCCACAGACGGGGTGGAGTCGGAGCTGCTGCACACCTACAGCAAGGTGGACCCGTTTGACGTCCTGATCCTGTGTGTGCGCGTGGCCGTGCTGACAGCAGTCACGCTCACAGTGCCCATCGTTCTGTTCCCGGTGAGCTGGTGGGCAGGTGGCTAGACTAGTGGCGGGAGGGGCTGATGGGGCCAACAGGCTGATGATTCTTCTCACCTGCCCCCCAGGTGCGCCGCGCCATCCAGCAGATGCTGTTTCCAAACCAGGAGTTCAGCTGGCTGCGGCATGTGCTTATTGCCGTTGGCCTGCTCACTTGTATCAACCTGCTGGTCATCTTTGCCCCCAACATCCTGGGCATCTTTGGGGTCATCGGTGAGGGTCTGGCCCTGCTGTGGAAGCAGGGTATTGCCCCAGAGGATTTCAACTCTGCAAATCCTGGCAGATTCCTGAGCTTACACCCTACATTAAGTGCAGTGGCCATGTGCACAGTTTGGCCTTCCATCTGAGCTTTTGTCCATAGGCTATTCTAATCCCTTTTCAGGGCTCAGAGCCACTGAGTCAGTCCCCCTTGCTGGAGGACAGGGGTGGATCCCAGGGATCAGAGGCCGCCTCAAAGGATCTCACTGGGTCTTGTCCACATTTCACATGTCAGGAAACTAAAGTTCAGAGTGATTAAAGGAGCAGCAGGGCCACACAGCTGGTGAATAGGAGCCTTGGGCTTGATTCAGCCCCAGGATCACTGGACTCCAAGTTTGATGCTCCATCCACTGCCTCATTCCAGATGGGGCTCTCAGCTGGTAGAGCAGACAATTCTGAAATGTCTTTGGGGTGATCCAACTCAGAGGACTAACAAACTCTGCCAGGACTGACAAACAGACCTGGGGGCTGAGTGTCATGGATATCACGGACAGCACTCTTCGTTCTCTATGTCCGAAATCCAACTCGAAATGAATTAAGCAGAAAGGAATCCACTGGCTCAAATAACGGAGAAGCCTTCAAGTATAGCTGCAGCCTGGAGCCCAATACCCTTAAGCCCTCATCTCTCTCCATCTCTTGATTTGCCTTTCCTCATTGCTAGCTTCATTGGCTGACATTCTTCTGACACCAACATCACCAGCCTTCTATCCTCATGGATGGAGAACAAGGGGGAGAGGCTGGTGGGCTAGAATCAGGCAGAGCTCTCCAGTGGTCTCAACATGAAACTCCCTCAACAAGGAGTGTTTGATCTCATTGAAGAGTCCACCCCCGAACCTTAGTCAGTAGGAGGATATGAGCCAGCAGTGGCCATGTCTTGTTCTTTGCAGGTGCCACATCTGCCCCATTCCTCATCTTCATCTTCCCTGCCATCTTCTACTTCCGAATCATGCCCACGGAGAAGGAGCCTGCAAGATCCACCCCCAAAATCCTGGTGCGAGGGGCCTGGAGGCCGGTGGGCTGGTATGGGGCTAAGGGAACTGCCCTGACCTCGGACCTGACCCTGACTTCTGATTCCACAGGCCCTGTGTTTTGCTATGCTTGGCTTCTTGCTGATGACCATGAGCTTGAGCTTCATCATCATTGACTGGGCCTCAGGGACCAGCCGGCATGGAGGAAACCACTAGGGTGACCCTCATCCTGTTCTGTCTACTCACCCTAGCAGCCCTGCCCAGACTCTTCAGCCCCTGCTCCCATCCAGTGGCCAGTCGGGGGAGGAGAAAGACGCGATTAACACTGTGGCATTCAGCCAGGCCCCATGTCCTCTCTGTGGAAGGTTTTTGTTCAAGAGCCAGGACCAAGGCCCTTGGGCCACTACCCTGCTAGGCTCTGGAGCTGTAGAGGCTTCCTGAACTGGGAGCAGGGTAGGGCTGTCGCCTTAGATCCCGCCCAAGCCCCTCATTCCCTCCTTGCACAGATGCATACACTGGGGCCCAGCAGCTGCCTCCTGAGGTGACACAGCCTGTAGGAACATACACAGCTGGGATCAGCCTGCAGCCATCCCCCGACCCTGCTGCTAGGCCACGGTCTGCGCCCTGGGGCCTCATCTCCCCCAGCCCACTTGTTTTCCCCCCTTTTATTCCCTAGGCCCTTTTCAGACTCCTGGGCCCTTGGATACTCTTCTCCCATCTCCCTTCACAGGATGACACCCTCCCATACCCCATAGCTGGGGCCAG
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GACCTGTGTATCCTGAGAAAAGCAACAGCAGTGCCTACAATAGAGAGGGTCCTGAGCATGAGCTGTGTGCCAGGCTGGAACCTTAGTTCTCATGTCACCCTGAAGGACAGTACTGAAGGCACGCCCTTTGTTTTGTTTTGTTTTGTTTTGTTTTGTTTGTGAGACGGAGTCTCGCTCAGTCGCCCAGGCTGGAGTACAGTGGCACAATCTTGGCTCACTGCAACCTCTGCCTCCCGGGTTCTTGTGATTCTCCTGCCTCAGTCTCCTGAGTAGCTGAGATTATAGGCGTGTGCCACCATGCCCGGCTAATTTTTTTGTATTTTTAGTAGAGATGGGGTTTCACCATGTTGGTCAGGCTGGTCTCGAACTCCTGACCTGATGATCCACCCACCTCAGCCTCCCAAAGTGCTGGGATTACAGGCGTGAACCACCGCGCCCAGCTGGGCATGCCCATTTTGCAGATGGGGAAAGTGAGACTCAGAGCTGTGGACAAACATTCTTCAGATGTCACTCAGTGGCACCATTGGTAACTCCAGCAGAGGGAGGCAGGGGCCCCATCCCAGGCTGAATGGATTCTGACCCTGGCTCCCGACTCATGTCCCTGCAGGGACTGGTACATGAACGGGAACTACCTGGTAATCCTTGTCTCTGTCACCATCATTCTGCCCCTGGCACTGATGCGGCAGCTTGGTGAGTGTGGAAGGGTCAGAGCCTTGGAGGGGATGTTGGAGGCATACACCATGGGAGGGGCCCCAGGTCTCAGAGTGCTCCCTCCACTTTGCAGGCTACCTGGGCTACTCCAGCGGCTTCTCTCTTAGCTGCATGGTGTTCTTCCTAATTGCAGTGAGTCACCCTCCATGTTGGCTGAGAAAGCGGGCAGCGGGTCTCCTGGGGGAGTTCCCTGTCATCAGGAGGGGGCAGGTGTCTCTGGGAAGCCTGGGCCAGAAGGCAGCTCCACCAGTCCTGATCTAGATGTGGCTTCATGGTGACTTCCCAGGCAGTCCAGCCTGGGAGTCTCTGACACCCTCATCCCTCCCCACTCCAGGTCATCTACAAAAAGTTCCACGTGCCCTGCCCACTGCCCCCCAACTTCAACAACACCACAGGCAACTTCAGCCACGTGGAGATCGTGAAGGAGAAGGTGCAGCTGCAGGTCGAGCCTGAGGCTTCAGCCTTCTGCACTCCCAGCTACTTCACGCTCAACTCACAGGTTCTGACAGGTCAGGGCAAGGCGGGGGCCCAATGAGAGTGGCAGACTGCCTTGACACAGCCCCGTGTTTCCCCAGACAGCATACACCATCCCCATCATGGCCTTCGCCTTCGTCTGCCACCCCGAGGTGCTGCCCATCTATACTGAGCTCAAGGAGTAGGTGTCTGTGGCTGGGAGTGGGGGTGGGGATGCCCTGAGCTGGTTTGGGGAGAATGGATGTGGTCCTGAATGTGGAGAGGGGAGTGACAGGAGCCAAGTCACTTTATCTGAGATGTCCTTGGCAGCCATGAGAGGTGATTATGAGCAAGAAGGAGACTCCCTCAGATGCTGAATGGTGAAAGTATGGTGCCAGAGAGAGCTTGGGGCACATGGGGGTCTCCCAATGTTACCCAGCTTGTCACCAACACCCACCCCCCCACTTCCCCACAGCCCCTCCAAGAAGAAGATGCAGCACATCTCCAACCTGTCCATCGCTGTCATGTACATCATGTACTTCCTGGCTGCCCTCTTCGGCTACCTCACCTTCTACAGTACGGTGGCACCGGTGGGCAGAGGCCTAGGCTAGGCTGGGGGGAAGGGGCTGGTTGTGGCCATGGTGCCCTCCATACCGAGGCGTGTGGTGCCTGGCTGTGCCTTGCCGCTGTGGAGGTGAGTCTGCATGCCAATCCCCACAGTGTTGGGGTCCCCTAGGCAGCTCAGATCCCACCTCCTTCCTGGGGCCACCTACTGACCACCCTCCCTGCCTGCCACAGACGGGGTGGAGTCGGAGCTGCTGCACACCTACAGCAAGGTGGACCCGTTTGACGTCCTGATCCTGTGTGTGCGCGTGGCCGTGCTGCCAGCAGTCACGCTCACAGTGCCCATCGTTCTGTTCCCGGTGAGCTGGTGGGCAGGTGGCTAGACTAGTGGCGGGAGGGGCTGATGGGGCCAACAGGCTGATGATTCTTCTCACCTGCCCCCCAGGTGCGCCGCGCCATCCAGCAGATGCTGTTTCCAAACCAGGAGTTCAGCTGGCTGCGGCATGTGCTTATTGCCGTTGGCCTGCTCACTTGTATCAACCTGCTGGTCATCTTTGCCCCCAACATCCTGGGCATCTTTGGGGTCATCGGTGAGGGTCTGGCCCTGCTGTGGAAGCAGGGTATTGCCCCAGAGGATTTCAACTCTGCAAATCCTGGCAGATTCCTGAGCTTACACCCTACATTAAGTGCAGTGGCCATGTGCACAGTTTGGCCTTCCATCTGAGCTTTTGTCCATAGGCTATTCTAATCCCTTTTCAGGGCTCAGAGCCACTGAGTCAGTCCCCCTTGCTGGAGGACAGGGGTGGATCCCAGGGATCAGAGGCCGCCTCAAAGGATCTCACTGGGTCTTGTCCACATTTCACATGTCAGGAAACTAAAGTTCAGAGTGATTAAAGGAGCAGCAGGGCCACACAGCTGGTGAATAGGAGCCTTGGGCTTGATTCAGCCCCAGGATCACTGGACTCCAAGTTTGATGCTCCATCCACTGCCTCATTCCAGATGGGGCTCTCAGCTGGTAGAGCAGACAATTCTGAAATGTCTTTGGGGTGATCCAACTCAGAGGACTAACAAACTCTGCCAGGACTGACAAACAGACCTGGGGGCTGAGTGTCATGGATATCACGGACAGCACTCTTCGTTCTCTATGTCCGAAATCCAACTCGAAATGAATTAAGCAGAAAGGAATCCACTGGCTCAAATAACGGAGAAGCCTTCAAGTATAGCTGCAGCCTGGAGCCCAATACCCTTAAGCCCTCATCTCTCTCCATCTCTTGATTTGCCTTTCCTCATTGCTAGCTTCATTGGCTGACATTCTTCTGACACCAACATCACCAGCCTTCTATCCTCATGGATGGAGAACAAGGGGGAGAGGCTGGTGGGCTAGAATCAGGCAGAGCTCTCCAGTGGTCTCAACATGAAACTCCCTCAACAAGGAGTGTTTGATCTCATTGAAGAGTCCACCCCCGAACCTTAGTCAGTAGGAGGATATGAGCCAGCAGTGGCCATGTCTTGTTCTTTGCAGGTGCCACATCTGCCCCATTCCTCATCTTCATCTTCCCTGCCATCTTCTACTTCCGAATCATGCCCACGGAGAAGGAGCCTGCAAGATCCACCCCCAAAATCCTGGTGCGAGGGGCCTGGAGGCCGGTGGGCTGGTATGGGGCTAAGGGAACTGCCCTGACCTCGGACCTGACCCTGACTTCTGATTCCACAGGCCCTGTGTTTTGCTATGCTTGGCTTCTTGCTGATGACCATGAGCTTGAGCTTCATCATCATTGACTGGGCCTCAGGGACCAGCCGGCATGGAGGAAACCACTAGGGTGACCCTCATCCTGTTCTGTCTACTCACCCTAGCAGCCCTGCCCAGACTCTTCAGCCCCTGCTCCCATCCAGTGGCCAGTCGGGGGAGGAGAAAGACGCGATTAACACTGTGGCATTCAGCCAGGCCCCATGTCCTCTCTGTGGAAGGTTTTTGTTCAAGAGCCAGGACCAAGGCCCTTGGGCCACTACCCTGCTAGGCTCTGGAGCTGTAGAGGCTTCCTGAACTGGGAGCAGGGTAGGGCTGTCGCCTTAGATCCCGCCCAAGCCCCTCATTCCCTCCTTGCACAGATGCATACACTGGGGCCCAGCAGCTGCCTCCTGAGGTGACACAGCCTGTAGGAACATACACAGCTGGGATCAGCCTGCAGCCATCCCCCGACCCTGCTGCTAGGCCACGGTCTGCGCCCTGGGGCCTCATCTCCCCCAGCCCACTTGTTTTCCCCCCTTTTATTCCCTAGGCCCTTTTCAGACTCCTGGGCCCTTGGATACTCTTCTCCCATCTCCCTTCACAGGATGACACCCTCCCATACCCCATAGCTGGGGCCAG
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Task1_train_7041
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A variant found in Chromosome 3 affects GNAI2 (G protein subunit alpha i2). Please analyze its biological impact: is it benign or pathogenic, and what condition might it cause?
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Pathogenic; Pituitary dependent hypercortisolism
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GAGGACCCCACGGGGAACAGGATAGACAGGCTAATAGCCATTGAGGATGGCTGCAGGGGACATCCACAGGCTTTGGATGGTGTCACCAGATAGGCTGCTGTCCCTGTACTCTAGCCTTCCCCTATCTCTGCTTAAGCCAGTCCCCTCTGACTGGAACACCCTTTTGCTCCTATTGTTCATCCAATCCTGAGCCTACCCATAGGGTGGATTTCAGCAAGGGTGGGTGGGAGGAGGAGGAGGGTCTTGCCTGGCTGTGATTCCTGAGCCCTGTCCAAGCCACATGAACAGCCTCCTCCTACCCTTCTTACATGGCCTGAATGCTCTTGTGAATATGTACCCCCTACAGGAGCTGTGGAGTCACAGCCAAATGCTGTGGGGGCCCCCAGGCCTCACCACTGCCCCTCCCTGAGATCTCTGGCCCAGCCACCAGCGAGCTTGGGGTCAGAGCAGCAGGGACCTTGGTGCCCATGATACTCAAAGGAAGCAGGAATAGAGCCACCTCCAGGCCACCTCCTGCTTCTCCATCATCCTCTTTCTCTATTCTCCAGACATTAGGCACCCACTGTGTGCCCAGCACAGTTTTGGGAGTGAATACAGGCCCTGTTCTCCCAGTCAGGTTTAAGCCTTGATAGCTCCCCCTGGGAATGGGTTGCGGATTGGAACACCACAGGAAGCAGGGCTCCTTCAGCCCCTCTTCGCAGCAACCCTCCAAGTGTGCAGCGAGTCAGGGGGTCCCTGGGGCGAACCCACCTGTTGGGGAAAAGGGAGAGGCTGGTGTGGAATGCACCATGGTACCTCCACATTGAGGACTCTGGCAGTAGGGGGCGGGGCATGGTATGCGGGTCACAGCACATGCGTCATCCTTCCCCATGGCCCTTCCTGTTTTTCTGTTTTGTCCCTGCTACTCTGAGATCATTTCCCTCTGGCCTGGTTTGGCCTGGGTGCTGGTGGGAGCCAAGGGCCAGCCCCAGCAGCCTTGCCCCAGGAATGAAAAGTCAGCTCTGGGCAGCAGCCTGGAGGCCTGGGACCAGCCTCCAGGGCATGGCAGGGATATTGAGGCAGGCAGCAGAGGCAGGCCCTGCAGGGGTAGCCTTGATACTAATTAAGGGAACTGGTAATGAGGAGCCCCTGGGACCCCTGCCAAGCAGGTGTCTGTGCCCTCCCCCTGAGGAACCCAGATTTCATTGGGCGCTGGGCAAAGAGCCCACTGGACCTGGCAGGCCCCAACCTGTCCAGCACCACATCGAGGGACCGCACCCGGCTGCTCTGCGGCTAATGCCGTAATTGCGCCCATTAGCATCCTGAATCCTTCACCGAAGGACTAATTTGCCTCCTCCCACCCTCTTTGCCTATAGCTCCAACATCCTGGATCCTGTCCGAGGCAGGTCTGGCTCAGACCCTGGGTGCTGGAGCTTGGCTGGCTAGCTGTCCACAGAGCTGCACCTCCTCCCATTCCCATTCTACAGGTGGGAGGCCGGGGGCTCTGAGTTCAGGTTTCTTCATTTGAGCAATGAGGTAATGCAGGCAGGGGTTAAAGAAACAAGGGCTGTGCCTAGGCCAGGCGCAGTGGCTCACGCCTGTAATCCCAGCACTCTGGGAGGCCGAGGTGGGCGGATCACCTGAGGTTGAGAGGTCAAGACCATCCTGGCCAACATGGTGAAACCCCGTCTCTACTAAAAATACAAAAATTAGCTGGGCGGCAGGCGCCTGTAGTCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATCGCTTGAACCTGGCAGGCAGAGGTTGCAGTGAGCCAAGATCATGCCACTGCACTCCAGCCTGGCAACAGAGTAACACTCTGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAAAGCAAGGGCTGTGCTTGAGAAATGGCATGGGAGGGAAGGGGCCTCTTGCAGCTGGCCCAGGGTCCAGCTAAGGAAGCCCCATGCTGGCCCCCACTGACCCTCCCACCCCCCATCCCCAGCTACCTGAACGACCTGGAGCGTATTGCACAGAGTGACTACATCCCCACACAGCAAGATGTGCTACGGACCCGCGTAAAGACCACGGGGATCGTGGAGACACACTTCACCTTCAAGGACCTACACTTCAAGTGAGCGAGCATGTGGACAGGTGGGAGGGGCAGGACCTGCCAGCCTCTGGGGTAGCAGAGGCAGGGGCTGGTCCAGGATCCCCCAGCCCCACTGAGGTTTTACAAGGCTCATGTGTTCTGGGCAAGCACATCCTCACCACCTAGTGAACCAGCAGTCAGGATCCACGCCACCTCTGCCAGCTGCTCACAGCCTCTGCTGCTCCTGCCTGATGTGGCTGCAGCCTGCCTGCTGTCCAAGCTCCTGGCCCAGAACCAGGGGTGAAGTGGGCAAGTGTGGATGATTCCAGAAGGTAGCTGCCCTACTCTGGGCAGGCCTCTGTCCTCAGTCAGCCAACCTGAGAAATGGGGTAGAAAGCCTCCCCCAGGCTCCCTTCCTGGAACTAAGGTGATCTATATCTGCAGGATGTTTGATGTGGGTGGTCAGCGGTCTGAGCGGAAGAAGTGGATCCACTGCTTTGAGGGCGTCACAGCCATCATCTTCTGCGTAGCCTTGAGCGCCTATGACTTGGTGCTAGCTGAGGACGAGGAGATGGTGAGAGGATGAGAGAATGCTGCGGGTGGGGGCAGCGGGCTTGGGGAGTGGTGGCTAGCGTTGACCTTGCTATTCTACCCCCAGAACCGCATGCATGAGAGCATGAAGCTATTCGATAGCATCTGCAACAACAAGTGGTTCACAGACACGTCCATCATCCTCTTCCTCAACAAGAAGGACCTGTTTGAGGAGAAGATCACACACAGTCCCCTGACCATCTGCTTCCCTGAGTACACAGGTGTGGGGACTGTGGGGATAGGGCCTCCAGAGGGTTGCTTCTTGTCCCAAGTAGCCTATGGTGACCAGGTGGCCCTCAGGCGCCCCCCACTGGACAGAAGTGTAACCTTGGAACACTGGCAGGGGCTGGTGCCTCACTTAGGCTTGTATAGTTGTGTGTGCACACATGAAGCCCTTAACACACTCAAGCATGTACCCCTGAACATGTGTACATGGGCATCCTCCTTCACACAGTGGGGTACCCCTTTGCACATCTGGCATGTATGGGCAGCCACAAACATTGTCATATTATGCACATGCATGCACAGGTTGTATGCCTGGCCGTCCACACGCACAGACCCTTGCTGCACACGTAGGATGCGGCCTGCCTGCCACACATGCAGCACAAGTCTTCATTTTCTCTCCCCCAGGGGCCAACAAATATGATGAGGCAGCCAGCTACATCCAGAGTAAGTTTGAGGACCTGAATAAGCGCAAAGACACCAAGGAGATCTACACGCACTTCACGTGCGCCACCGACACCAAGAACGTGCAGTTCGTGTTTGACGCCGTCACCGATGTCATCATCAAGAACAACCTGAAGGACTGCGGCCTCTTCTGAGGGGCAGCGGGGCCTGGCGGGATGGTGAGCCAGAGGGGCTGTGGCAGGGTGCTGGGGAAGAACTAAGCGGGCCTGGAGCCCCAGCAGGGGGTTCTGGGGGTGGGTAGGGGGGTGAACCTGGAGGGGGAGGGGCAATAGGTGACCAGGGGACAAGGGAGGAGAAGGCCCAGGGTGTGAATCAGGAGGTCAAGTGAGTGAGGTGCAGGGCATGGAGGAGGTCATACAAGCAGGCCTGGCCCAGTGGTCCAGACAGAAGGGCCTGGCCTTGCCCTGGGACAGAACCAGAGGCCATCCTGATGTTCCCTGGAGAAATCTCACCTCCTCACCCACCAGGCCATTGGCCCAGCCTGCCGGAAGCTGCATGCCAGCGGAGCCCAGCCCTGCTGCCCACTACCACCAGCTCCATGTGCACCTCCAGCTCTTGCCCTCTGACTTGTCTGAGCGTCCCGGGCTTAGGCTGGCCCCACTGGCCCTGGTGGAGGTGGGGATGACTCTCCCAGTGCCACAGACTCCCCTCCCCCACGTAACCCAGCAACAGAAACTGGCTCCTGGGCGGCAACTGTGTCCCTGGTAACAAATGGGTAGGAAAAATAGAGAAGGGTCATTGTCTAGGGAGGCG
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GAGGACCCCACGGGGAACAGGATAGACAGGCTAATAGCCATTGAGGATGGCTGCAGGGGACATCCACAGGCTTTGGATGGTGTCACCAGATAGGCTGCTGTCCCTGTACTCTAGCCTTCCCCTATCTCTGCTTAAGCCAGTCCCCTCTGACTGGAACACCCTTTTGCTCCTATTGTTCATCCAATCCTGAGCCTACCCATAGGGTGGATTTCAGCAAGGGTGGGTGGGAGGAGGAGGAGGGTCTTGCCTGGCTGTGATTCCTGAGCCCTGTCCAAGCCACATGAACAGCCTCCTCCTACCCTTCTTACATGGCCTGAATGCTCTTGTGAATATGTACCCCCTACAGGAGCTGTGGAGTCACAGCCAAATGCTGTGGGGGCCCCCAGGCCTCACCACTGCCCCTCCCTGAGATCTCTGGCCCAGCCACCAGCGAGCTTGGGGTCAGAGCAGCAGGGACCTTGGTGCCCATGATACTCAAAGGAAGCAGGAATAGAGCCACCTCCAGGCCACCTCCTGCTTCTCCATCATCCTCTTTCTCTATTCTCCAGACATTAGGCACCCACTGTGTGCCCAGCACAGTTTTGGGAGTGAATACAGGCCCTGTTCTCCCAGTCAGGTTTAAGCCTTGATAGCTCCCCCTGGGAATGGGTTGCGGATTGGAACACCACAGGAAGCAGGGCTCCTTCAGCCCCTCTTCGCAGCAACCCTCCAAGTGTGCAGCGAGTCAGGGGGTCCCTGGGGCGAACCCACCTGTTGGGGAAAAGGGAGAGGCTGGTGTGGAATGCACCATGGTACCTCCACATTGAGGACTCTGGCAGTAGGGGGCGGGGCATGGTATGCGGGTCACAGCACATGCGTCATCCTTCCCCATGGCCCTTCCTGTTTTTCTGTTTTGTCCCTGCTACTCTGAGATCATTTCCCTCTGGCCTGGTTTGGCCTGGGTGCTGGTGGGAGCCAAGGGCCAGCCCCAGCAGCCTTGCCCCAGGAATGAAAAGTCAGCTCTGGGCAGCAGCCTGGAGGCCTGGGACCAGCCTCCAGGGCATGGCAGGGATATTGAGGCAGGCAGCAGAGGCAGGCCCTGCAGGGGTAGCCTTGATACTAATTAAGGGAACTGGTAATGAGGAGCCCCTGGGACCCCTGCCAAGCAGGTGTCTGTGCCCTCCCCCTGAGGAACCCAGATTTCATTGGGCGCTGGGCAAAGAGCCCACTGGACCTGGCAGGCCCCAACCTGTCCAGCACCACATCGAGGGACCGCACCCGGCTGCTCTGCGGCTAATGCCGTAATTGCGCCCATTAGCATCCTGAATCCTTCACCGAAGGACTAATTTGCCTCCTCCCACCCTCTTTGCCTATAGCTCCAACATCCTGGATCCTGTCCGAGGCAGGTCTGGCTCAGACCCTGGGTGCTGGAGCTTGGCTGGCTAGCTGTCCACAGAGCTGCACCTCCTCCCATTCCCATTCTACAGGTGGGAGGCCGGGGGCTCTGAGTTCAGGTTTCTTCATTTGAGCAATGAGGTAATGCAGGCAGGGGTTAAAGAAACAAGGGCTGTGCCTAGGCCAGGCGCAGTGGCTCACGCCTGTAATCCCAGCACTCTGGGAGGCCGAGGTGGGCGGATCACCTGAGGTTGAGAGGTCAAGACCATCCTGGCCAACATGGTGAAACCCCGTCTCTACTAAAAATACAAAAATTAGCTGGGCGGCAGGCGCCTGTAGTCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATCGCTTGAACCTGGCAGGCAGAGGTTGCAGTGAGCCAAGATCATGCCACTGCACTCCAGCCTGGCAACAGAGTAACACTCTGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAAAGCAAGGGCTGTGCTTGAGAAATGGCATGGGAGGGAAGGGGCCTCTTGCAGCTGGCCCAGGGTCCAGCTAAGGAAGCCCCATGCTGGCCCCCACTGACCCTCCCACCCCCCATCCCCAGCTACCTGAACGACCTGGAGCGTATTGCACAGAGTGACTACATCCCCACACAGCAAGATGTGCTACGGACCGGCGTAAAGACCACGGGGATCGTGGAGACACACTTCACCTTCAAGGACCTACACTTCAAGTGAGCGAGCATGTGGACAGGTGGGAGGGGCAGGACCTGCCAGCCTCTGGGGTAGCAGAGGCAGGGGCTGGTCCAGGATCCCCCAGCCCCACTGAGGTTTTACAAGGCTCATGTGTTCTGGGCAAGCACATCCTCACCACCTAGTGAACCAGCAGTCAGGATCCACGCCACCTCTGCCAGCTGCTCACAGCCTCTGCTGCTCCTGCCTGATGTGGCTGCAGCCTGCCTGCTGTCCAAGCTCCTGGCCCAGAACCAGGGGTGAAGTGGGCAAGTGTGGATGATTCCAGAAGGTAGCTGCCCTACTCTGGGCAGGCCTCTGTCCTCAGTCAGCCAACCTGAGAAATGGGGTAGAAAGCCTCCCCCAGGCTCCCTTCCTGGAACTAAGGTGATCTATATCTGCAGGATGTTTGATGTGGGTGGTCAGCGGTCTGAGCGGAAGAAGTGGATCCACTGCTTTGAGGGCGTCACAGCCATCATCTTCTGCGTAGCCTTGAGCGCCTATGACTTGGTGCTAGCTGAGGACGAGGAGATGGTGAGAGGATGAGAGAATGCTGCGGGTGGGGGCAGCGGGCTTGGGGAGTGGTGGCTAGCGTTGACCTTGCTATTCTACCCCCAGAACCGCATGCATGAGAGCATGAAGCTATTCGATAGCATCTGCAACAACAAGTGGTTCACAGACACGTCCATCATCCTCTTCCTCAACAAGAAGGACCTGTTTGAGGAGAAGATCACACACAGTCCCCTGACCATCTGCTTCCCTGAGTACACAGGTGTGGGGACTGTGGGGATAGGGCCTCCAGAGGGTTGCTTCTTGTCCCAAGTAGCCTATGGTGACCAGGTGGCCCTCAGGCGCCCCCCACTGGACAGAAGTGTAACCTTGGAACACTGGCAGGGGCTGGTGCCTCACTTAGGCTTGTATAGTTGTGTGTGCACACATGAAGCCCTTAACACACTCAAGCATGTACCCCTGAACATGTGTACATGGGCATCCTCCTTCACACAGTGGGGTACCCCTTTGCACATCTGGCATGTATGGGCAGCCACAAACATTGTCATATTATGCACATGCATGCACAGGTTGTATGCCTGGCCGTCCACACGCACAGACCCTTGCTGCACACGTAGGATGCGGCCTGCCTGCCACACATGCAGCACAAGTCTTCATTTTCTCTCCCCCAGGGGCCAACAAATATGATGAGGCAGCCAGCTACATCCAGAGTAAGTTTGAGGACCTGAATAAGCGCAAAGACACCAAGGAGATCTACACGCACTTCACGTGCGCCACCGACACCAAGAACGTGCAGTTCGTGTTTGACGCCGTCACCGATGTCATCATCAAGAACAACCTGAAGGACTGCGGCCTCTTCTGAGGGGCAGCGGGGCCTGGCGGGATGGTGAGCCAGAGGGGCTGTGGCAGGGTGCTGGGGAAGAACTAAGCGGGCCTGGAGCCCCAGCAGGGGGTTCTGGGGGTGGGTAGGGGGGTGAACCTGGAGGGGGAGGGGCAATAGGTGACCAGGGGACAAGGGAGGAGAAGGCCCAGGGTGTGAATCAGGAGGTCAAGTGAGTGAGGTGCAGGGCATGGAGGAGGTCATACAAGCAGGCCTGGCCCAGTGGTCCAGACAGAAGGGCCTGGCCTTGCCCTGGGACAGAACCAGAGGCCATCCTGATGTTCCCTGGAGAAATCTCACCTCCTCACCCACCAGGCCATTGGCCCAGCCTGCCGGAAGCTGCATGCCAGCGGAGCCCAGCCCTGCTGCCCACTACCACCAGCTCCATGTGCACCTCCAGCTCTTGCCCTCTGACTTGTCTGAGCGTCCCGGGCTTAGGCTGGCCCCACTGGCCCTGGTGGAGGTGGGGATGACTCTCCCAGTGCCACAGACTCCCCTCCCCCACGTAACCCAGCAACAGAAACTGGCTCCTGGGCGGCAACTGTGTCCCTGGTAACAAATGGGTAGGAAAAATAGAGAAGGGTCATTGTCTAGGGAGGCG
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Task1_train_7042
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An alteration has been detected in GNAI2 (G protein subunit alpha i2) on Chromosome 3. Is it pathogenic, and if so, what disease is involved?
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Pathogenic; Ovarian granulosa cell tumor
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AGGACCCCACGGGGAACAGGATAGACAGGCTAATAGCCATTGAGGATGGCTGCAGGGGACATCCACAGGCTTTGGATGGTGTCACCAGATAGGCTGCTGTCCCTGTACTCTAGCCTTCCCCTATCTCTGCTTAAGCCAGTCCCCTCTGACTGGAACACCCTTTTGCTCCTATTGTTCATCCAATCCTGAGCCTACCCATAGGGTGGATTTCAGCAAGGGTGGGTGGGAGGAGGAGGAGGGTCTTGCCTGGCTGTGATTCCTGAGCCCTGTCCAAGCCACATGAACAGCCTCCTCCTACCCTTCTTACATGGCCTGAATGCTCTTGTGAATATGTACCCCCTACAGGAGCTGTGGAGTCACAGCCAAATGCTGTGGGGGCCCCCAGGCCTCACCACTGCCCCTCCCTGAGATCTCTGGCCCAGCCACCAGCGAGCTTGGGGTCAGAGCAGCAGGGACCTTGGTGCCCATGATACTCAAAGGAAGCAGGAATAGAGCCACCTCCAGGCCACCTCCTGCTTCTCCATCATCCTCTTTCTCTATTCTCCAGACATTAGGCACCCACTGTGTGCCCAGCACAGTTTTGGGAGTGAATACAGGCCCTGTTCTCCCAGTCAGGTTTAAGCCTTGATAGCTCCCCCTGGGAATGGGTTGCGGATTGGAACACCACAGGAAGCAGGGCTCCTTCAGCCCCTCTTCGCAGCAACCCTCCAAGTGTGCAGCGAGTCAGGGGGTCCCTGGGGCGAACCCACCTGTTGGGGAAAAGGGAGAGGCTGGTGTGGAATGCACCATGGTACCTCCACATTGAGGACTCTGGCAGTAGGGGGCGGGGCATGGTATGCGGGTCACAGCACATGCGTCATCCTTCCCCATGGCCCTTCCTGTTTTTCTGTTTTGTCCCTGCTACTCTGAGATCATTTCCCTCTGGCCTGGTTTGGCCTGGGTGCTGGTGGGAGCCAAGGGCCAGCCCCAGCAGCCTTGCCCCAGGAATGAAAAGTCAGCTCTGGGCAGCAGCCTGGAGGCCTGGGACCAGCCTCCAGGGCATGGCAGGGATATTGAGGCAGGCAGCAGAGGCAGGCCCTGCAGGGGTAGCCTTGATACTAATTAAGGGAACTGGTAATGAGGAGCCCCTGGGACCCCTGCCAAGCAGGTGTCTGTGCCCTCCCCCTGAGGAACCCAGATTTCATTGGGCGCTGGGCAAAGAGCCCACTGGACCTGGCAGGCCCCAACCTGTCCAGCACCACATCGAGGGACCGCACCCGGCTGCTCTGCGGCTAATGCCGTAATTGCGCCCATTAGCATCCTGAATCCTTCACCGAAGGACTAATTTGCCTCCTCCCACCCTCTTTGCCTATAGCTCCAACATCCTGGATCCTGTCCGAGGCAGGTCTGGCTCAGACCCTGGGTGCTGGAGCTTGGCTGGCTAGCTGTCCACAGAGCTGCACCTCCTCCCATTCCCATTCTACAGGTGGGAGGCCGGGGGCTCTGAGTTCAGGTTTCTTCATTTGAGCAATGAGGTAATGCAGGCAGGGGTTAAAGAAACAAGGGCTGTGCCTAGGCCAGGCGCAGTGGCTCACGCCTGTAATCCCAGCACTCTGGGAGGCCGAGGTGGGCGGATCACCTGAGGTTGAGAGGTCAAGACCATCCTGGCCAACATGGTGAAACCCCGTCTCTACTAAAAATACAAAAATTAGCTGGGCGGCAGGCGCCTGTAGTCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATCGCTTGAACCTGGCAGGCAGAGGTTGCAGTGAGCCAAGATCATGCCACTGCACTCCAGCCTGGCAACAGAGTAACACTCTGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAAAGCAAGGGCTGTGCTTGAGAAATGGCATGGGAGGGAAGGGGCCTCTTGCAGCTGGCCCAGGGTCCAGCTAAGGAAGCCCCATGCTGGCCCCCACTGACCCTCCCACCCCCCATCCCCAGCTACCTGAACGACCTGGAGCGTATTGCACAGAGTGACTACATCCCCACACAGCAAGATGTGCTACGGACCCGCGTAAAGACCACGGGGATCGTGGAGACACACTTCACCTTCAAGGACCTACACTTCAAGTGAGCGAGCATGTGGACAGGTGGGAGGGGCAGGACCTGCCAGCCTCTGGGGTAGCAGAGGCAGGGGCTGGTCCAGGATCCCCCAGCCCCACTGAGGTTTTACAAGGCTCATGTGTTCTGGGCAAGCACATCCTCACCACCTAGTGAACCAGCAGTCAGGATCCACGCCACCTCTGCCAGCTGCTCACAGCCTCTGCTGCTCCTGCCTGATGTGGCTGCAGCCTGCCTGCTGTCCAAGCTCCTGGCCCAGAACCAGGGGTGAAGTGGGCAAGTGTGGATGATTCCAGAAGGTAGCTGCCCTACTCTGGGCAGGCCTCTGTCCTCAGTCAGCCAACCTGAGAAATGGGGTAGAAAGCCTCCCCCAGGCTCCCTTCCTGGAACTAAGGTGATCTATATCTGCAGGATGTTTGATGTGGGTGGTCAGCGGTCTGAGCGGAAGAAGTGGATCCACTGCTTTGAGGGCGTCACAGCCATCATCTTCTGCGTAGCCTTGAGCGCCTATGACTTGGTGCTAGCTGAGGACGAGGAGATGGTGAGAGGATGAGAGAATGCTGCGGGTGGGGGCAGCGGGCTTGGGGAGTGGTGGCTAGCGTTGACCTTGCTATTCTACCCCCAGAACCGCATGCATGAGAGCATGAAGCTATTCGATAGCATCTGCAACAACAAGTGGTTCACAGACACGTCCATCATCCTCTTCCTCAACAAGAAGGACCTGTTTGAGGAGAAGATCACACACAGTCCCCTGACCATCTGCTTCCCTGAGTACACAGGTGTGGGGACTGTGGGGATAGGGCCTCCAGAGGGTTGCTTCTTGTCCCAAGTAGCCTATGGTGACCAGGTGGCCCTCAGGCGCCCCCCACTGGACAGAAGTGTAACCTTGGAACACTGGCAGGGGCTGGTGCCTCACTTAGGCTTGTATAGTTGTGTGTGCACACATGAAGCCCTTAACACACTCAAGCATGTACCCCTGAACATGTGTACATGGGCATCCTCCTTCACACAGTGGGGTACCCCTTTGCACATCTGGCATGTATGGGCAGCCACAAACATTGTCATATTATGCACATGCATGCACAGGTTGTATGCCTGGCCGTCCACACGCACAGACCCTTGCTGCACACGTAGGATGCGGCCTGCCTGCCACACATGCAGCACAAGTCTTCATTTTCTCTCCCCCAGGGGCCAACAAATATGATGAGGCAGCCAGCTACATCCAGAGTAAGTTTGAGGACCTGAATAAGCGCAAAGACACCAAGGAGATCTACACGCACTTCACGTGCGCCACCGACACCAAGAACGTGCAGTTCGTGTTTGACGCCGTCACCGATGTCATCATCAAGAACAACCTGAAGGACTGCGGCCTCTTCTGAGGGGCAGCGGGGCCTGGCGGGATGGTGAGCCAGAGGGGCTGTGGCAGGGTGCTGGGGAAGAACTAAGCGGGCCTGGAGCCCCAGCAGGGGGTTCTGGGGGTGGGTAGGGGGGTGAACCTGGAGGGGGAGGGGCAATAGGTGACCAGGGGACAAGGGAGGAGAAGGCCCAGGGTGTGAATCAGGAGGTCAAGTGAGTGAGGTGCAGGGCATGGAGGAGGTCATACAAGCAGGCCTGGCCCAGTGGTCCAGACAGAAGGGCCTGGCCTTGCCCTGGGACAGAACCAGAGGCCATCCTGATGTTCCCTGGAGAAATCTCACCTCCTCACCCACCAGGCCATTGGCCCAGCCTGCCGGAAGCTGCATGCCAGCGGAGCCCAGCCCTGCTGCCCACTACCACCAGCTCCATGTGCACCTCCAGCTCTTGCCCTCTGACTTGTCTGAGCGTCCCGGGCTTAGGCTGGCCCCACTGGCCCTGGTGGAGGTGGGGATGACTCTCCCAGTGCCACAGACTCCCCTCCCCCACGTAACCCAGCAACAGAAACTGGCTCCTGGGCGGCAACTGTGTCCCTGGTAACAAATGGGTAGGAAAAATAGAGAAGGGTCATTGTCTAGGGAGGCGG
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AGGACCCCACGGGGAACAGGATAGACAGGCTAATAGCCATTGAGGATGGCTGCAGGGGACATCCACAGGCTTTGGATGGTGTCACCAGATAGGCTGCTGTCCCTGTACTCTAGCCTTCCCCTATCTCTGCTTAAGCCAGTCCCCTCTGACTGGAACACCCTTTTGCTCCTATTGTTCATCCAATCCTGAGCCTACCCATAGGGTGGATTTCAGCAAGGGTGGGTGGGAGGAGGAGGAGGGTCTTGCCTGGCTGTGATTCCTGAGCCCTGTCCAAGCCACATGAACAGCCTCCTCCTACCCTTCTTACATGGCCTGAATGCTCTTGTGAATATGTACCCCCTACAGGAGCTGTGGAGTCACAGCCAAATGCTGTGGGGGCCCCCAGGCCTCACCACTGCCCCTCCCTGAGATCTCTGGCCCAGCCACCAGCGAGCTTGGGGTCAGAGCAGCAGGGACCTTGGTGCCCATGATACTCAAAGGAAGCAGGAATAGAGCCACCTCCAGGCCACCTCCTGCTTCTCCATCATCCTCTTTCTCTATTCTCCAGACATTAGGCACCCACTGTGTGCCCAGCACAGTTTTGGGAGTGAATACAGGCCCTGTTCTCCCAGTCAGGTTTAAGCCTTGATAGCTCCCCCTGGGAATGGGTTGCGGATTGGAACACCACAGGAAGCAGGGCTCCTTCAGCCCCTCTTCGCAGCAACCCTCCAAGTGTGCAGCGAGTCAGGGGGTCCCTGGGGCGAACCCACCTGTTGGGGAAAAGGGAGAGGCTGGTGTGGAATGCACCATGGTACCTCCACATTGAGGACTCTGGCAGTAGGGGGCGGGGCATGGTATGCGGGTCACAGCACATGCGTCATCCTTCCCCATGGCCCTTCCTGTTTTTCTGTTTTGTCCCTGCTACTCTGAGATCATTTCCCTCTGGCCTGGTTTGGCCTGGGTGCTGGTGGGAGCCAAGGGCCAGCCCCAGCAGCCTTGCCCCAGGAATGAAAAGTCAGCTCTGGGCAGCAGCCTGGAGGCCTGGGACCAGCCTCCAGGGCATGGCAGGGATATTGAGGCAGGCAGCAGAGGCAGGCCCTGCAGGGGTAGCCTTGATACTAATTAAGGGAACTGGTAATGAGGAGCCCCTGGGACCCCTGCCAAGCAGGTGTCTGTGCCCTCCCCCTGAGGAACCCAGATTTCATTGGGCGCTGGGCAAAGAGCCCACTGGACCTGGCAGGCCCCAACCTGTCCAGCACCACATCGAGGGACCGCACCCGGCTGCTCTGCGGCTAATGCCGTAATTGCGCCCATTAGCATCCTGAATCCTTCACCGAAGGACTAATTTGCCTCCTCCCACCCTCTTTGCCTATAGCTCCAACATCCTGGATCCTGTCCGAGGCAGGTCTGGCTCAGACCCTGGGTGCTGGAGCTTGGCTGGCTAGCTGTCCACAGAGCTGCACCTCCTCCCATTCCCATTCTACAGGTGGGAGGCCGGGGGCTCTGAGTTCAGGTTTCTTCATTTGAGCAATGAGGTAATGCAGGCAGGGGTTAAAGAAACAAGGGCTGTGCCTAGGCCAGGCGCAGTGGCTCACGCCTGTAATCCCAGCACTCTGGGAGGCCGAGGTGGGCGGATCACCTGAGGTTGAGAGGTCAAGACCATCCTGGCCAACATGGTGAAACCCCGTCTCTACTAAAAATACAAAAATTAGCTGGGCGGCAGGCGCCTGTAGTCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATCGCTTGAACCTGGCAGGCAGAGGTTGCAGTGAGCCAAGATCATGCCACTGCACTCCAGCCTGGCAACAGAGTAACACTCTGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAAAGCAAGGGCTGTGCTTGAGAAATGGCATGGGAGGGAAGGGGCCTCTTGCAGCTGGCCCAGGGTCCAGCTAAGGAAGCCCCATGCTGGCCCCCACTGACCCTCCCACCCCCCATCCCCAGCTACCTGAACGACCTGGAGCGTATTGCACAGAGTGACTACATCCCCACACAGCAAGATGTGCTACGGACCCACGTAAAGACCACGGGGATCGTGGAGACACACTTCACCTTCAAGGACCTACACTTCAAGTGAGCGAGCATGTGGACAGGTGGGAGGGGCAGGACCTGCCAGCCTCTGGGGTAGCAGAGGCAGGGGCTGGTCCAGGATCCCCCAGCCCCACTGAGGTTTTACAAGGCTCATGTGTTCTGGGCAAGCACATCCTCACCACCTAGTGAACCAGCAGTCAGGATCCACGCCACCTCTGCCAGCTGCTCACAGCCTCTGCTGCTCCTGCCTGATGTGGCTGCAGCCTGCCTGCTGTCCAAGCTCCTGGCCCAGAACCAGGGGTGAAGTGGGCAAGTGTGGATGATTCCAGAAGGTAGCTGCCCTACTCTGGGCAGGCCTCTGTCCTCAGTCAGCCAACCTGAGAAATGGGGTAGAAAGCCTCCCCCAGGCTCCCTTCCTGGAACTAAGGTGATCTATATCTGCAGGATGTTTGATGTGGGTGGTCAGCGGTCTGAGCGGAAGAAGTGGATCCACTGCTTTGAGGGCGTCACAGCCATCATCTTCTGCGTAGCCTTGAGCGCCTATGACTTGGTGCTAGCTGAGGACGAGGAGATGGTGAGAGGATGAGAGAATGCTGCGGGTGGGGGCAGCGGGCTTGGGGAGTGGTGGCTAGCGTTGACCTTGCTATTCTACCCCCAGAACCGCATGCATGAGAGCATGAAGCTATTCGATAGCATCTGCAACAACAAGTGGTTCACAGACACGTCCATCATCCTCTTCCTCAACAAGAAGGACCTGTTTGAGGAGAAGATCACACACAGTCCCCTGACCATCTGCTTCCCTGAGTACACAGGTGTGGGGACTGTGGGGATAGGGCCTCCAGAGGGTTGCTTCTTGTCCCAAGTAGCCTATGGTGACCAGGTGGCCCTCAGGCGCCCCCCACTGGACAGAAGTGTAACCTTGGAACACTGGCAGGGGCTGGTGCCTCACTTAGGCTTGTATAGTTGTGTGTGCACACATGAAGCCCTTAACACACTCAAGCATGTACCCCTGAACATGTGTACATGGGCATCCTCCTTCACACAGTGGGGTACCCCTTTGCACATCTGGCATGTATGGGCAGCCACAAACATTGTCATATTATGCACATGCATGCACAGGTTGTATGCCTGGCCGTCCACACGCACAGACCCTTGCTGCACACGTAGGATGCGGCCTGCCTGCCACACATGCAGCACAAGTCTTCATTTTCTCTCCCCCAGGGGCCAACAAATATGATGAGGCAGCCAGCTACATCCAGAGTAAGTTTGAGGACCTGAATAAGCGCAAAGACACCAAGGAGATCTACACGCACTTCACGTGCGCCACCGACACCAAGAACGTGCAGTTCGTGTTTGACGCCGTCACCGATGTCATCATCAAGAACAACCTGAAGGACTGCGGCCTCTTCTGAGGGGCAGCGGGGCCTGGCGGGATGGTGAGCCAGAGGGGCTGTGGCAGGGTGCTGGGGAAGAACTAAGCGGGCCTGGAGCCCCAGCAGGGGGTTCTGGGGGTGGGTAGGGGGGTGAACCTGGAGGGGGAGGGGCAATAGGTGACCAGGGGACAAGGGAGGAGAAGGCCCAGGGTGTGAATCAGGAGGTCAAGTGAGTGAGGTGCAGGGCATGGAGGAGGTCATACAAGCAGGCCTGGCCCAGTGGTCCAGACAGAAGGGCCTGGCCTTGCCCTGGGACAGAACCAGAGGCCATCCTGATGTTCCCTGGAGAAATCTCACCTCCTCACCCACCAGGCCATTGGCCCAGCCTGCCGGAAGCTGCATGCCAGCGGAGCCCAGCCCTGCTGCCCACTACCACCAGCTCCATGTGCACCTCCAGCTCTTGCCCTCTGACTTGTCTGAGCGTCCCGGGCTTAGGCTGGCCCCACTGGCCCTGGTGGAGGTGGGGATGACTCTCCCAGTGCCACAGACTCCCCTCCCCCACGTAACCCAGCAACAGAAACTGGCTCCTGGGCGGCAACTGTGTCCCTGGTAACAAATGGGTAGGAAAAATAGAGAAGGGTCATTGTCTAGGGAGGCGG
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Task1_train_7043
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A mutation in GNAI2 (G protein subunit alpha i2), located on Chromosome 3, is being studied. Determine whether it’s pathogenic or benign, and specify the linked disease.
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Pathogenic; Thecoma, somatic
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AGGACCCCACGGGGAACAGGATAGACAGGCTAATAGCCATTGAGGATGGCTGCAGGGGACATCCACAGGCTTTGGATGGTGTCACCAGATAGGCTGCTGTCCCTGTACTCTAGCCTTCCCCTATCTCTGCTTAAGCCAGTCCCCTCTGACTGGAACACCCTTTTGCTCCTATTGTTCATCCAATCCTGAGCCTACCCATAGGGTGGATTTCAGCAAGGGTGGGTGGGAGGAGGAGGAGGGTCTTGCCTGGCTGTGATTCCTGAGCCCTGTCCAAGCCACATGAACAGCCTCCTCCTACCCTTCTTACATGGCCTGAATGCTCTTGTGAATATGTACCCCCTACAGGAGCTGTGGAGTCACAGCCAAATGCTGTGGGGGCCCCCAGGCCTCACCACTGCCCCTCCCTGAGATCTCTGGCCCAGCCACCAGCGAGCTTGGGGTCAGAGCAGCAGGGACCTTGGTGCCCATGATACTCAAAGGAAGCAGGAATAGAGCCACCTCCAGGCCACCTCCTGCTTCTCCATCATCCTCTTTCTCTATTCTCCAGACATTAGGCACCCACTGTGTGCCCAGCACAGTTTTGGGAGTGAATACAGGCCCTGTTCTCCCAGTCAGGTTTAAGCCTTGATAGCTCCCCCTGGGAATGGGTTGCGGATTGGAACACCACAGGAAGCAGGGCTCCTTCAGCCCCTCTTCGCAGCAACCCTCCAAGTGTGCAGCGAGTCAGGGGGTCCCTGGGGCGAACCCACCTGTTGGGGAAAAGGGAGAGGCTGGTGTGGAATGCACCATGGTACCTCCACATTGAGGACTCTGGCAGTAGGGGGCGGGGCATGGTATGCGGGTCACAGCACATGCGTCATCCTTCCCCATGGCCCTTCCTGTTTTTCTGTTTTGTCCCTGCTACTCTGAGATCATTTCCCTCTGGCCTGGTTTGGCCTGGGTGCTGGTGGGAGCCAAGGGCCAGCCCCAGCAGCCTTGCCCCAGGAATGAAAAGTCAGCTCTGGGCAGCAGCCTGGAGGCCTGGGACCAGCCTCCAGGGCATGGCAGGGATATTGAGGCAGGCAGCAGAGGCAGGCCCTGCAGGGGTAGCCTTGATACTAATTAAGGGAACTGGTAATGAGGAGCCCCTGGGACCCCTGCCAAGCAGGTGTCTGTGCCCTCCCCCTGAGGAACCCAGATTTCATTGGGCGCTGGGCAAAGAGCCCACTGGACCTGGCAGGCCCCAACCTGTCCAGCACCACATCGAGGGACCGCACCCGGCTGCTCTGCGGCTAATGCCGTAATTGCGCCCATTAGCATCCTGAATCCTTCACCGAAGGACTAATTTGCCTCCTCCCACCCTCTTTGCCTATAGCTCCAACATCCTGGATCCTGTCCGAGGCAGGTCTGGCTCAGACCCTGGGTGCTGGAGCTTGGCTGGCTAGCTGTCCACAGAGCTGCACCTCCTCCCATTCCCATTCTACAGGTGGGAGGCCGGGGGCTCTGAGTTCAGGTTTCTTCATTTGAGCAATGAGGTAATGCAGGCAGGGGTTAAAGAAACAAGGGCTGTGCCTAGGCCAGGCGCAGTGGCTCACGCCTGTAATCCCAGCACTCTGGGAGGCCGAGGTGGGCGGATCACCTGAGGTTGAGAGGTCAAGACCATCCTGGCCAACATGGTGAAACCCCGTCTCTACTAAAAATACAAAAATTAGCTGGGCGGCAGGCGCCTGTAGTCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATCGCTTGAACCTGGCAGGCAGAGGTTGCAGTGAGCCAAGATCATGCCACTGCACTCCAGCCTGGCAACAGAGTAACACTCTGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAAAGCAAGGGCTGTGCTTGAGAAATGGCATGGGAGGGAAGGGGCCTCTTGCAGCTGGCCCAGGGTCCAGCTAAGGAAGCCCCATGCTGGCCCCCACTGACCCTCCCACCCCCCATCCCCAGCTACCTGAACGACCTGGAGCGTATTGCACAGAGTGACTACATCCCCACACAGCAAGATGTGCTACGGACCCGCGTAAAGACCACGGGGATCGTGGAGACACACTTCACCTTCAAGGACCTACACTTCAAGTGAGCGAGCATGTGGACAGGTGGGAGGGGCAGGACCTGCCAGCCTCTGGGGTAGCAGAGGCAGGGGCTGGTCCAGGATCCCCCAGCCCCACTGAGGTTTTACAAGGCTCATGTGTTCTGGGCAAGCACATCCTCACCACCTAGTGAACCAGCAGTCAGGATCCACGCCACCTCTGCCAGCTGCTCACAGCCTCTGCTGCTCCTGCCTGATGTGGCTGCAGCCTGCCTGCTGTCCAAGCTCCTGGCCCAGAACCAGGGGTGAAGTGGGCAAGTGTGGATGATTCCAGAAGGTAGCTGCCCTACTCTGGGCAGGCCTCTGTCCTCAGTCAGCCAACCTGAGAAATGGGGTAGAAAGCCTCCCCCAGGCTCCCTTCCTGGAACTAAGGTGATCTATATCTGCAGGATGTTTGATGTGGGTGGTCAGCGGTCTGAGCGGAAGAAGTGGATCCACTGCTTTGAGGGCGTCACAGCCATCATCTTCTGCGTAGCCTTGAGCGCCTATGACTTGGTGCTAGCTGAGGACGAGGAGATGGTGAGAGGATGAGAGAATGCTGCGGGTGGGGGCAGCGGGCTTGGGGAGTGGTGGCTAGCGTTGACCTTGCTATTCTACCCCCAGAACCGCATGCATGAGAGCATGAAGCTATTCGATAGCATCTGCAACAACAAGTGGTTCACAGACACGTCCATCATCCTCTTCCTCAACAAGAAGGACCTGTTTGAGGAGAAGATCACACACAGTCCCCTGACCATCTGCTTCCCTGAGTACACAGGTGTGGGGACTGTGGGGATAGGGCCTCCAGAGGGTTGCTTCTTGTCCCAAGTAGCCTATGGTGACCAGGTGGCCCTCAGGCGCCCCCCACTGGACAGAAGTGTAACCTTGGAACACTGGCAGGGGCTGGTGCCTCACTTAGGCTTGTATAGTTGTGTGTGCACACATGAAGCCCTTAACACACTCAAGCATGTACCCCTGAACATGTGTACATGGGCATCCTCCTTCACACAGTGGGGTACCCCTTTGCACATCTGGCATGTATGGGCAGCCACAAACATTGTCATATTATGCACATGCATGCACAGGTTGTATGCCTGGCCGTCCACACGCACAGACCCTTGCTGCACACGTAGGATGCGGCCTGCCTGCCACACATGCAGCACAAGTCTTCATTTTCTCTCCCCCAGGGGCCAACAAATATGATGAGGCAGCCAGCTACATCCAGAGTAAGTTTGAGGACCTGAATAAGCGCAAAGACACCAAGGAGATCTACACGCACTTCACGTGCGCCACCGACACCAAGAACGTGCAGTTCGTGTTTGACGCCGTCACCGATGTCATCATCAAGAACAACCTGAAGGACTGCGGCCTCTTCTGAGGGGCAGCGGGGCCTGGCGGGATGGTGAGCCAGAGGGGCTGTGGCAGGGTGCTGGGGAAGAACTAAGCGGGCCTGGAGCCCCAGCAGGGGGTTCTGGGGGTGGGTAGGGGGGTGAACCTGGAGGGGGAGGGGCAATAGGTGACCAGGGGACAAGGGAGGAGAAGGCCCAGGGTGTGAATCAGGAGGTCAAGTGAGTGAGGTGCAGGGCATGGAGGAGGTCATACAAGCAGGCCTGGCCCAGTGGTCCAGACAGAAGGGCCTGGCCTTGCCCTGGGACAGAACCAGAGGCCATCCTGATGTTCCCTGGAGAAATCTCACCTCCTCACCCACCAGGCCATTGGCCCAGCCTGCCGGAAGCTGCATGCCAGCGGAGCCCAGCCCTGCTGCCCACTACCACCAGCTCCATGTGCACCTCCAGCTCTTGCCCTCTGACTTGTCTGAGCGTCCCGGGCTTAGGCTGGCCCCACTGGCCCTGGTGGAGGTGGGGATGACTCTCCCAGTGCCACAGACTCCCCTCCCCCACGTAACCCAGCAACAGAAACTGGCTCCTGGGCGGCAACTGTGTCCCTGGTAACAAATGGGTAGGAAAAATAGAGAAGGGTCATTGTCTAGGGAGGCGG
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AGGACCCCACGGGGAACAGGATAGACAGGCTAATAGCCATTGAGGATGGCTGCAGGGGACATCCACAGGCTTTGGATGGTGTCACCAGATAGGCTGCTGTCCCTGTACTCTAGCCTTCCCCTATCTCTGCTTAAGCCAGTCCCCTCTGACTGGAACACCCTTTTGCTCCTATTGTTCATCCAATCCTGAGCCTACCCATAGGGTGGATTTCAGCAAGGGTGGGTGGGAGGAGGAGGAGGGTCTTGCCTGGCTGTGATTCCTGAGCCCTGTCCAAGCCACATGAACAGCCTCCTCCTACCCTTCTTACATGGCCTGAATGCTCTTGTGAATATGTACCCCCTACAGGAGCTGTGGAGTCACAGCCAAATGCTGTGGGGGCCCCCAGGCCTCACCACTGCCCCTCCCTGAGATCTCTGGCCCAGCCACCAGCGAGCTTGGGGTCAGAGCAGCAGGGACCTTGGTGCCCATGATACTCAAAGGAAGCAGGAATAGAGCCACCTCCAGGCCACCTCCTGCTTCTCCATCATCCTCTTTCTCTATTCTCCAGACATTAGGCACCCACTGTGTGCCCAGCACAGTTTTGGGAGTGAATACAGGCCCTGTTCTCCCAGTCAGGTTTAAGCCTTGATAGCTCCCCCTGGGAATGGGTTGCGGATTGGAACACCACAGGAAGCAGGGCTCCTTCAGCCCCTCTTCGCAGCAACCCTCCAAGTGTGCAGCGAGTCAGGGGGTCCCTGGGGCGAACCCACCTGTTGGGGAAAAGGGAGAGGCTGGTGTGGAATGCACCATGGTACCTCCACATTGAGGACTCTGGCAGTAGGGGGCGGGGCATGGTATGCGGGTCACAGCACATGCGTCATCCTTCCCCATGGCCCTTCCTGTTTTTCTGTTTTGTCCCTGCTACTCTGAGATCATTTCCCTCTGGCCTGGTTTGGCCTGGGTGCTGGTGGGAGCCAAGGGCCAGCCCCAGCAGCCTTGCCCCAGGAATGAAAAGTCAGCTCTGGGCAGCAGCCTGGAGGCCTGGGACCAGCCTCCAGGGCATGGCAGGGATATTGAGGCAGGCAGCAGAGGCAGGCCCTGCAGGGGTAGCCTTGATACTAATTAAGGGAACTGGTAATGAGGAGCCCCTGGGACCCCTGCCAAGCAGGTGTCTGTGCCCTCCCCCTGAGGAACCCAGATTTCATTGGGCGCTGGGCAAAGAGCCCACTGGACCTGGCAGGCCCCAACCTGTCCAGCACCACATCGAGGGACCGCACCCGGCTGCTCTGCGGCTAATGCCGTAATTGCGCCCATTAGCATCCTGAATCCTTCACCGAAGGACTAATTTGCCTCCTCCCACCCTCTTTGCCTATAGCTCCAACATCCTGGATCCTGTCCGAGGCAGGTCTGGCTCAGACCCTGGGTGCTGGAGCTTGGCTGGCTAGCTGTCCACAGAGCTGCACCTCCTCCCATTCCCATTCTACAGGTGGGAGGCCGGGGGCTCTGAGTTCAGGTTTCTTCATTTGAGCAATGAGGTAATGCAGGCAGGGGTTAAAGAAACAAGGGCTGTGCCTAGGCCAGGCGCAGTGGCTCACGCCTGTAATCCCAGCACTCTGGGAGGCCGAGGTGGGCGGATCACCTGAGGTTGAGAGGTCAAGACCATCCTGGCCAACATGGTGAAACCCCGTCTCTACTAAAAATACAAAAATTAGCTGGGCGGCAGGCGCCTGTAGTCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATCGCTTGAACCTGGCAGGCAGAGGTTGCAGTGAGCCAAGATCATGCCACTGCACTCCAGCCTGGCAACAGAGTAACACTCTGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAAAGCAAGGGCTGTGCTTGAGAAATGGCATGGGAGGGAAGGGGCCTCTTGCAGCTGGCCCAGGGTCCAGCTAAGGAAGCCCCATGCTGGCCCCCACTGACCCTCCCACCCCCCATCCCCAGCTACCTGAACGACCTGGAGCGTATTGCACAGAGTGACTACATCCCCACACAGCAAGATGTGCTACGGACCCACGTAAAGACCACGGGGATCGTGGAGACACACTTCACCTTCAAGGACCTACACTTCAAGTGAGCGAGCATGTGGACAGGTGGGAGGGGCAGGACCTGCCAGCCTCTGGGGTAGCAGAGGCAGGGGCTGGTCCAGGATCCCCCAGCCCCACTGAGGTTTTACAAGGCTCATGTGTTCTGGGCAAGCACATCCTCACCACCTAGTGAACCAGCAGTCAGGATCCACGCCACCTCTGCCAGCTGCTCACAGCCTCTGCTGCTCCTGCCTGATGTGGCTGCAGCCTGCCTGCTGTCCAAGCTCCTGGCCCAGAACCAGGGGTGAAGTGGGCAAGTGTGGATGATTCCAGAAGGTAGCTGCCCTACTCTGGGCAGGCCTCTGTCCTCAGTCAGCCAACCTGAGAAATGGGGTAGAAAGCCTCCCCCAGGCTCCCTTCCTGGAACTAAGGTGATCTATATCTGCAGGATGTTTGATGTGGGTGGTCAGCGGTCTGAGCGGAAGAAGTGGATCCACTGCTTTGAGGGCGTCACAGCCATCATCTTCTGCGTAGCCTTGAGCGCCTATGACTTGGTGCTAGCTGAGGACGAGGAGATGGTGAGAGGATGAGAGAATGCTGCGGGTGGGGGCAGCGGGCTTGGGGAGTGGTGGCTAGCGTTGACCTTGCTATTCTACCCCCAGAACCGCATGCATGAGAGCATGAAGCTATTCGATAGCATCTGCAACAACAAGTGGTTCACAGACACGTCCATCATCCTCTTCCTCAACAAGAAGGACCTGTTTGAGGAGAAGATCACACACAGTCCCCTGACCATCTGCTTCCCTGAGTACACAGGTGTGGGGACTGTGGGGATAGGGCCTCCAGAGGGTTGCTTCTTGTCCCAAGTAGCCTATGGTGACCAGGTGGCCCTCAGGCGCCCCCCACTGGACAGAAGTGTAACCTTGGAACACTGGCAGGGGCTGGTGCCTCACTTAGGCTTGTATAGTTGTGTGTGCACACATGAAGCCCTTAACACACTCAAGCATGTACCCCTGAACATGTGTACATGGGCATCCTCCTTCACACAGTGGGGTACCCCTTTGCACATCTGGCATGTATGGGCAGCCACAAACATTGTCATATTATGCACATGCATGCACAGGTTGTATGCCTGGCCGTCCACACGCACAGACCCTTGCTGCACACGTAGGATGCGGCCTGCCTGCCACACATGCAGCACAAGTCTTCATTTTCTCTCCCCCAGGGGCCAACAAATATGATGAGGCAGCCAGCTACATCCAGAGTAAGTTTGAGGACCTGAATAAGCGCAAAGACACCAAGGAGATCTACACGCACTTCACGTGCGCCACCGACACCAAGAACGTGCAGTTCGTGTTTGACGCCGTCACCGATGTCATCATCAAGAACAACCTGAAGGACTGCGGCCTCTTCTGAGGGGCAGCGGGGCCTGGCGGGATGGTGAGCCAGAGGGGCTGTGGCAGGGTGCTGGGGAAGAACTAAGCGGGCCTGGAGCCCCAGCAGGGGGTTCTGGGGGTGGGTAGGGGGGTGAACCTGGAGGGGGAGGGGCAATAGGTGACCAGGGGACAAGGGAGGAGAAGGCCCAGGGTGTGAATCAGGAGGTCAAGTGAGTGAGGTGCAGGGCATGGAGGAGGTCATACAAGCAGGCCTGGCCCAGTGGTCCAGACAGAAGGGCCTGGCCTTGCCCTGGGACAGAACCAGAGGCCATCCTGATGTTCCCTGGAGAAATCTCACCTCCTCACCCACCAGGCCATTGGCCCAGCCTGCCGGAAGCTGCATGCCAGCGGAGCCCAGCCCTGCTGCCCACTACCACCAGCTCCATGTGCACCTCCAGCTCTTGCCCTCTGACTTGTCTGAGCGTCCCGGGCTTAGGCTGGCCCCACTGGCCCTGGTGGAGGTGGGGATGACTCTCCCAGTGCCACAGACTCCCCTCCCCCACGTAACCCAGCAACAGAAACTGGCTCCTGGGCGGCAACTGTGTCCCTGGTAACAAATGGGTAGGAAAAATAGAGAAGGGTCATTGTCTAGGGAGGCGG
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Task1_train_7044
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A variant affecting Chromosome 3, within the gene GNAI2 (G protein subunit alpha i2), has been observed. Determine if it's benign or associated with disease.
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Pathogenic; Adrenocortical tumor, somatic
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AGGACCCCACGGGGAACAGGATAGACAGGCTAATAGCCATTGAGGATGGCTGCAGGGGACATCCACAGGCTTTGGATGGTGTCACCAGATAGGCTGCTGTCCCTGTACTCTAGCCTTCCCCTATCTCTGCTTAAGCCAGTCCCCTCTGACTGGAACACCCTTTTGCTCCTATTGTTCATCCAATCCTGAGCCTACCCATAGGGTGGATTTCAGCAAGGGTGGGTGGGAGGAGGAGGAGGGTCTTGCCTGGCTGTGATTCCTGAGCCCTGTCCAAGCCACATGAACAGCCTCCTCCTACCCTTCTTACATGGCCTGAATGCTCTTGTGAATATGTACCCCCTACAGGAGCTGTGGAGTCACAGCCAAATGCTGTGGGGGCCCCCAGGCCTCACCACTGCCCCTCCCTGAGATCTCTGGCCCAGCCACCAGCGAGCTTGGGGTCAGAGCAGCAGGGACCTTGGTGCCCATGATACTCAAAGGAAGCAGGAATAGAGCCACCTCCAGGCCACCTCCTGCTTCTCCATCATCCTCTTTCTCTATTCTCCAGACATTAGGCACCCACTGTGTGCCCAGCACAGTTTTGGGAGTGAATACAGGCCCTGTTCTCCCAGTCAGGTTTAAGCCTTGATAGCTCCCCCTGGGAATGGGTTGCGGATTGGAACACCACAGGAAGCAGGGCTCCTTCAGCCCCTCTTCGCAGCAACCCTCCAAGTGTGCAGCGAGTCAGGGGGTCCCTGGGGCGAACCCACCTGTTGGGGAAAAGGGAGAGGCTGGTGTGGAATGCACCATGGTACCTCCACATTGAGGACTCTGGCAGTAGGGGGCGGGGCATGGTATGCGGGTCACAGCACATGCGTCATCCTTCCCCATGGCCCTTCCTGTTTTTCTGTTTTGTCCCTGCTACTCTGAGATCATTTCCCTCTGGCCTGGTTTGGCCTGGGTGCTGGTGGGAGCCAAGGGCCAGCCCCAGCAGCCTTGCCCCAGGAATGAAAAGTCAGCTCTGGGCAGCAGCCTGGAGGCCTGGGACCAGCCTCCAGGGCATGGCAGGGATATTGAGGCAGGCAGCAGAGGCAGGCCCTGCAGGGGTAGCCTTGATACTAATTAAGGGAACTGGTAATGAGGAGCCCCTGGGACCCCTGCCAAGCAGGTGTCTGTGCCCTCCCCCTGAGGAACCCAGATTTCATTGGGCGCTGGGCAAAGAGCCCACTGGACCTGGCAGGCCCCAACCTGTCCAGCACCACATCGAGGGACCGCACCCGGCTGCTCTGCGGCTAATGCCGTAATTGCGCCCATTAGCATCCTGAATCCTTCACCGAAGGACTAATTTGCCTCCTCCCACCCTCTTTGCCTATAGCTCCAACATCCTGGATCCTGTCCGAGGCAGGTCTGGCTCAGACCCTGGGTGCTGGAGCTTGGCTGGCTAGCTGTCCACAGAGCTGCACCTCCTCCCATTCCCATTCTACAGGTGGGAGGCCGGGGGCTCTGAGTTCAGGTTTCTTCATTTGAGCAATGAGGTAATGCAGGCAGGGGTTAAAGAAACAAGGGCTGTGCCTAGGCCAGGCGCAGTGGCTCACGCCTGTAATCCCAGCACTCTGGGAGGCCGAGGTGGGCGGATCACCTGAGGTTGAGAGGTCAAGACCATCCTGGCCAACATGGTGAAACCCCGTCTCTACTAAAAATACAAAAATTAGCTGGGCGGCAGGCGCCTGTAGTCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATCGCTTGAACCTGGCAGGCAGAGGTTGCAGTGAGCCAAGATCATGCCACTGCACTCCAGCCTGGCAACAGAGTAACACTCTGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAAAGCAAGGGCTGTGCTTGAGAAATGGCATGGGAGGGAAGGGGCCTCTTGCAGCTGGCCCAGGGTCCAGCTAAGGAAGCCCCATGCTGGCCCCCACTGACCCTCCCACCCCCCATCCCCAGCTACCTGAACGACCTGGAGCGTATTGCACAGAGTGACTACATCCCCACACAGCAAGATGTGCTACGGACCCGCGTAAAGACCACGGGGATCGTGGAGACACACTTCACCTTCAAGGACCTACACTTCAAGTGAGCGAGCATGTGGACAGGTGGGAGGGGCAGGACCTGCCAGCCTCTGGGGTAGCAGAGGCAGGGGCTGGTCCAGGATCCCCCAGCCCCACTGAGGTTTTACAAGGCTCATGTGTTCTGGGCAAGCACATCCTCACCACCTAGTGAACCAGCAGTCAGGATCCACGCCACCTCTGCCAGCTGCTCACAGCCTCTGCTGCTCCTGCCTGATGTGGCTGCAGCCTGCCTGCTGTCCAAGCTCCTGGCCCAGAACCAGGGGTGAAGTGGGCAAGTGTGGATGATTCCAGAAGGTAGCTGCCCTACTCTGGGCAGGCCTCTGTCCTCAGTCAGCCAACCTGAGAAATGGGGTAGAAAGCCTCCCCCAGGCTCCCTTCCTGGAACTAAGGTGATCTATATCTGCAGGATGTTTGATGTGGGTGGTCAGCGGTCTGAGCGGAAGAAGTGGATCCACTGCTTTGAGGGCGTCACAGCCATCATCTTCTGCGTAGCCTTGAGCGCCTATGACTTGGTGCTAGCTGAGGACGAGGAGATGGTGAGAGGATGAGAGAATGCTGCGGGTGGGGGCAGCGGGCTTGGGGAGTGGTGGCTAGCGTTGACCTTGCTATTCTACCCCCAGAACCGCATGCATGAGAGCATGAAGCTATTCGATAGCATCTGCAACAACAAGTGGTTCACAGACACGTCCATCATCCTCTTCCTCAACAAGAAGGACCTGTTTGAGGAGAAGATCACACACAGTCCCCTGACCATCTGCTTCCCTGAGTACACAGGTGTGGGGACTGTGGGGATAGGGCCTCCAGAGGGTTGCTTCTTGTCCCAAGTAGCCTATGGTGACCAGGTGGCCCTCAGGCGCCCCCCACTGGACAGAAGTGTAACCTTGGAACACTGGCAGGGGCTGGTGCCTCACTTAGGCTTGTATAGTTGTGTGTGCACACATGAAGCCCTTAACACACTCAAGCATGTACCCCTGAACATGTGTACATGGGCATCCTCCTTCACACAGTGGGGTACCCCTTTGCACATCTGGCATGTATGGGCAGCCACAAACATTGTCATATTATGCACATGCATGCACAGGTTGTATGCCTGGCCGTCCACACGCACAGACCCTTGCTGCACACGTAGGATGCGGCCTGCCTGCCACACATGCAGCACAAGTCTTCATTTTCTCTCCCCCAGGGGCCAACAAATATGATGAGGCAGCCAGCTACATCCAGAGTAAGTTTGAGGACCTGAATAAGCGCAAAGACACCAAGGAGATCTACACGCACTTCACGTGCGCCACCGACACCAAGAACGTGCAGTTCGTGTTTGACGCCGTCACCGATGTCATCATCAAGAACAACCTGAAGGACTGCGGCCTCTTCTGAGGGGCAGCGGGGCCTGGCGGGATGGTGAGCCAGAGGGGCTGTGGCAGGGTGCTGGGGAAGAACTAAGCGGGCCTGGAGCCCCAGCAGGGGGTTCTGGGGGTGGGTAGGGGGGTGAACCTGGAGGGGGAGGGGCAATAGGTGACCAGGGGACAAGGGAGGAGAAGGCCCAGGGTGTGAATCAGGAGGTCAAGTGAGTGAGGTGCAGGGCATGGAGGAGGTCATACAAGCAGGCCTGGCCCAGTGGTCCAGACAGAAGGGCCTGGCCTTGCCCTGGGACAGAACCAGAGGCCATCCTGATGTTCCCTGGAGAAATCTCACCTCCTCACCCACCAGGCCATTGGCCCAGCCTGCCGGAAGCTGCATGCCAGCGGAGCCCAGCCCTGCTGCCCACTACCACCAGCTCCATGTGCACCTCCAGCTCTTGCCCTCTGACTTGTCTGAGCGTCCCGGGCTTAGGCTGGCCCCACTGGCCCTGGTGGAGGTGGGGATGACTCTCCCAGTGCCACAGACTCCCCTCCCCCACGTAACCCAGCAACAGAAACTGGCTCCTGGGCGGCAACTGTGTCCCTGGTAACAAATGGGTAGGAAAAATAGAGAAGGGTCATTGTCTAGGGAGGCGG
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AGGACCCCACGGGGAACAGGATAGACAGGCTAATAGCCATTGAGGATGGCTGCAGGGGACATCCACAGGCTTTGGATGGTGTCACCAGATAGGCTGCTGTCCCTGTACTCTAGCCTTCCCCTATCTCTGCTTAAGCCAGTCCCCTCTGACTGGAACACCCTTTTGCTCCTATTGTTCATCCAATCCTGAGCCTACCCATAGGGTGGATTTCAGCAAGGGTGGGTGGGAGGAGGAGGAGGGTCTTGCCTGGCTGTGATTCCTGAGCCCTGTCCAAGCCACATGAACAGCCTCCTCCTACCCTTCTTACATGGCCTGAATGCTCTTGTGAATATGTACCCCCTACAGGAGCTGTGGAGTCACAGCCAAATGCTGTGGGGGCCCCCAGGCCTCACCACTGCCCCTCCCTGAGATCTCTGGCCCAGCCACCAGCGAGCTTGGGGTCAGAGCAGCAGGGACCTTGGTGCCCATGATACTCAAAGGAAGCAGGAATAGAGCCACCTCCAGGCCACCTCCTGCTTCTCCATCATCCTCTTTCTCTATTCTCCAGACATTAGGCACCCACTGTGTGCCCAGCACAGTTTTGGGAGTGAATACAGGCCCTGTTCTCCCAGTCAGGTTTAAGCCTTGATAGCTCCCCCTGGGAATGGGTTGCGGATTGGAACACCACAGGAAGCAGGGCTCCTTCAGCCCCTCTTCGCAGCAACCCTCCAAGTGTGCAGCGAGTCAGGGGGTCCCTGGGGCGAACCCACCTGTTGGGGAAAAGGGAGAGGCTGGTGTGGAATGCACCATGGTACCTCCACATTGAGGACTCTGGCAGTAGGGGGCGGGGCATGGTATGCGGGTCACAGCACATGCGTCATCCTTCCCCATGGCCCTTCCTGTTTTTCTGTTTTGTCCCTGCTACTCTGAGATCATTTCCCTCTGGCCTGGTTTGGCCTGGGTGCTGGTGGGAGCCAAGGGCCAGCCCCAGCAGCCTTGCCCCAGGAATGAAAAGTCAGCTCTGGGCAGCAGCCTGGAGGCCTGGGACCAGCCTCCAGGGCATGGCAGGGATATTGAGGCAGGCAGCAGAGGCAGGCCCTGCAGGGGTAGCCTTGATACTAATTAAGGGAACTGGTAATGAGGAGCCCCTGGGACCCCTGCCAAGCAGGTGTCTGTGCCCTCCCCCTGAGGAACCCAGATTTCATTGGGCGCTGGGCAAAGAGCCCACTGGACCTGGCAGGCCCCAACCTGTCCAGCACCACATCGAGGGACCGCACCCGGCTGCTCTGCGGCTAATGCCGTAATTGCGCCCATTAGCATCCTGAATCCTTCACCGAAGGACTAATTTGCCTCCTCCCACCCTCTTTGCCTATAGCTCCAACATCCTGGATCCTGTCCGAGGCAGGTCTGGCTCAGACCCTGGGTGCTGGAGCTTGGCTGGCTAGCTGTCCACAGAGCTGCACCTCCTCCCATTCCCATTCTACAGGTGGGAGGCCGGGGGCTCTGAGTTCAGGTTTCTTCATTTGAGCAATGAGGTAATGCAGGCAGGGGTTAAAGAAACAAGGGCTGTGCCTAGGCCAGGCGCAGTGGCTCACGCCTGTAATCCCAGCACTCTGGGAGGCCGAGGTGGGCGGATCACCTGAGGTTGAGAGGTCAAGACCATCCTGGCCAACATGGTGAAACCCCGTCTCTACTAAAAATACAAAAATTAGCTGGGCGGCAGGCGCCTGTAGTCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATCGCTTGAACCTGGCAGGCAGAGGTTGCAGTGAGCCAAGATCATGCCACTGCACTCCAGCCTGGCAACAGAGTAACACTCTGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAAAGCAAGGGCTGTGCTTGAGAAATGGCATGGGAGGGAAGGGGCCTCTTGCAGCTGGCCCAGGGTCCAGCTAAGGAAGCCCCATGCTGGCCCCCACTGACCCTCCCACCCCCCATCCCCAGCTACCTGAACGACCTGGAGCGTATTGCACAGAGTGACTACATCCCCACACAGCAAGATGTGCTACGGACCCACGTAAAGACCACGGGGATCGTGGAGACACACTTCACCTTCAAGGACCTACACTTCAAGTGAGCGAGCATGTGGACAGGTGGGAGGGGCAGGACCTGCCAGCCTCTGGGGTAGCAGAGGCAGGGGCTGGTCCAGGATCCCCCAGCCCCACTGAGGTTTTACAAGGCTCATGTGTTCTGGGCAAGCACATCCTCACCACCTAGTGAACCAGCAGTCAGGATCCACGCCACCTCTGCCAGCTGCTCACAGCCTCTGCTGCTCCTGCCTGATGTGGCTGCAGCCTGCCTGCTGTCCAAGCTCCTGGCCCAGAACCAGGGGTGAAGTGGGCAAGTGTGGATGATTCCAGAAGGTAGCTGCCCTACTCTGGGCAGGCCTCTGTCCTCAGTCAGCCAACCTGAGAAATGGGGTAGAAAGCCTCCCCCAGGCTCCCTTCCTGGAACTAAGGTGATCTATATCTGCAGGATGTTTGATGTGGGTGGTCAGCGGTCTGAGCGGAAGAAGTGGATCCACTGCTTTGAGGGCGTCACAGCCATCATCTTCTGCGTAGCCTTGAGCGCCTATGACTTGGTGCTAGCTGAGGACGAGGAGATGGTGAGAGGATGAGAGAATGCTGCGGGTGGGGGCAGCGGGCTTGGGGAGTGGTGGCTAGCGTTGACCTTGCTATTCTACCCCCAGAACCGCATGCATGAGAGCATGAAGCTATTCGATAGCATCTGCAACAACAAGTGGTTCACAGACACGTCCATCATCCTCTTCCTCAACAAGAAGGACCTGTTTGAGGAGAAGATCACACACAGTCCCCTGACCATCTGCTTCCCTGAGTACACAGGTGTGGGGACTGTGGGGATAGGGCCTCCAGAGGGTTGCTTCTTGTCCCAAGTAGCCTATGGTGACCAGGTGGCCCTCAGGCGCCCCCCACTGGACAGAAGTGTAACCTTGGAACACTGGCAGGGGCTGGTGCCTCACTTAGGCTTGTATAGTTGTGTGTGCACACATGAAGCCCTTAACACACTCAAGCATGTACCCCTGAACATGTGTACATGGGCATCCTCCTTCACACAGTGGGGTACCCCTTTGCACATCTGGCATGTATGGGCAGCCACAAACATTGTCATATTATGCACATGCATGCACAGGTTGTATGCCTGGCCGTCCACACGCACAGACCCTTGCTGCACACGTAGGATGCGGCCTGCCTGCCACACATGCAGCACAAGTCTTCATTTTCTCTCCCCCAGGGGCCAACAAATATGATGAGGCAGCCAGCTACATCCAGAGTAAGTTTGAGGACCTGAATAAGCGCAAAGACACCAAGGAGATCTACACGCACTTCACGTGCGCCACCGACACCAAGAACGTGCAGTTCGTGTTTGACGCCGTCACCGATGTCATCATCAAGAACAACCTGAAGGACTGCGGCCTCTTCTGAGGGGCAGCGGGGCCTGGCGGGATGGTGAGCCAGAGGGGCTGTGGCAGGGTGCTGGGGAAGAACTAAGCGGGCCTGGAGCCCCAGCAGGGGGTTCTGGGGGTGGGTAGGGGGGTGAACCTGGAGGGGGAGGGGCAATAGGTGACCAGGGGACAAGGGAGGAGAAGGCCCAGGGTGTGAATCAGGAGGTCAAGTGAGTGAGGTGCAGGGCATGGAGGAGGTCATACAAGCAGGCCTGGCCCAGTGGTCCAGACAGAAGGGCCTGGCCTTGCCCTGGGACAGAACCAGAGGCCATCCTGATGTTCCCTGGAGAAATCTCACCTCCTCACCCACCAGGCCATTGGCCCAGCCTGCCGGAAGCTGCATGCCAGCGGAGCCCAGCCCTGCTGCCCACTACCACCAGCTCCATGTGCACCTCCAGCTCTTGCCCTCTGACTTGTCTGAGCGTCCCGGGCTTAGGCTGGCCCCACTGGCCCTGGTGGAGGTGGGGATGACTCTCCCAGTGCCACAGACTCCCCTCCCCCACGTAACCCAGCAACAGAAACTGGCTCCTGGGCGGCAACTGTGTCCCTGGTAACAAATGGGTAGGAAAAATAGAGAAGGGTCATTGTCTAGGGAGGCGG
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Task1_train_7045
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The gene GNAI2 (G protein subunit alpha i2) on Chromosome 3 contains a mutation. Based on this information, is the variant pathogenic or benign? Provide the disease if relevant.
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Pathogenic; Ventricular tachycardia, somatic
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ATGATACTCAAAGGAAGCAGGAATAGAGCCACCTCCAGGCCACCTCCTGCTTCTCCATCATCCTCTTTCTCTATTCTCCAGACATTAGGCACCCACTGTGTGCCCAGCACAGTTTTGGGAGTGAATACAGGCCCTGTTCTCCCAGTCAGGTTTAAGCCTTGATAGCTCCCCCTGGGAATGGGTTGCGGATTGGAACACCACAGGAAGCAGGGCTCCTTCAGCCCCTCTTCGCAGCAACCCTCCAAGTGTGCAGCGAGTCAGGGGGTCCCTGGGGCGAACCCACCTGTTGGGGAAAAGGGAGAGGCTGGTGTGGAATGCACCATGGTACCTCCACATTGAGGACTCTGGCAGTAGGGGGCGGGGCATGGTATGCGGGTCACAGCACATGCGTCATCCTTCCCCATGGCCCTTCCTGTTTTTCTGTTTTGTCCCTGCTACTCTGAGATCATTTCCCTCTGGCCTGGTTTGGCCTGGGTGCTGGTGGGAGCCAAGGGCCAGCCCCAGCAGCCTTGCCCCAGGAATGAAAAGTCAGCTCTGGGCAGCAGCCTGGAGGCCTGGGACCAGCCTCCAGGGCATGGCAGGGATATTGAGGCAGGCAGCAGAGGCAGGCCCTGCAGGGGTAGCCTTGATACTAATTAAGGGAACTGGTAATGAGGAGCCCCTGGGACCCCTGCCAAGCAGGTGTCTGTGCCCTCCCCCTGAGGAACCCAGATTTCATTGGGCGCTGGGCAAAGAGCCCACTGGACCTGGCAGGCCCCAACCTGTCCAGCACCACATCGAGGGACCGCACCCGGCTGCTCTGCGGCTAATGCCGTAATTGCGCCCATTAGCATCCTGAATCCTTCACCGAAGGACTAATTTGCCTCCTCCCACCCTCTTTGCCTATAGCTCCAACATCCTGGATCCTGTCCGAGGCAGGTCTGGCTCAGACCCTGGGTGCTGGAGCTTGGCTGGCTAGCTGTCCACAGAGCTGCACCTCCTCCCATTCCCATTCTACAGGTGGGAGGCCGGGGGCTCTGAGTTCAGGTTTCTTCATTTGAGCAATGAGGTAATGCAGGCAGGGGTTAAAGAAACAAGGGCTGTGCCTAGGCCAGGCGCAGTGGCTCACGCCTGTAATCCCAGCACTCTGGGAGGCCGAGGTGGGCGGATCACCTGAGGTTGAGAGGTCAAGACCATCCTGGCCAACATGGTGAAACCCCGTCTCTACTAAAAATACAAAAATTAGCTGGGCGGCAGGCGCCTGTAGTCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATCGCTTGAACCTGGCAGGCAGAGGTTGCAGTGAGCCAAGATCATGCCACTGCACTCCAGCCTGGCAACAGAGTAACACTCTGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAAAGCAAGGGCTGTGCTTGAGAAATGGCATGGGAGGGAAGGGGCCTCTTGCAGCTGGCCCAGGGTCCAGCTAAGGAAGCCCCATGCTGGCCCCCACTGACCCTCCCACCCCCCATCCCCAGCTACCTGAACGACCTGGAGCGTATTGCACAGAGTGACTACATCCCCACACAGCAAGATGTGCTACGGACCCGCGTAAAGACCACGGGGATCGTGGAGACACACTTCACCTTCAAGGACCTACACTTCAAGTGAGCGAGCATGTGGACAGGTGGGAGGGGCAGGACCTGCCAGCCTCTGGGGTAGCAGAGGCAGGGGCTGGTCCAGGATCCCCCAGCCCCACTGAGGTTTTACAAGGCTCATGTGTTCTGGGCAAGCACATCCTCACCACCTAGTGAACCAGCAGTCAGGATCCACGCCACCTCTGCCAGCTGCTCACAGCCTCTGCTGCTCCTGCCTGATGTGGCTGCAGCCTGCCTGCTGTCCAAGCTCCTGGCCCAGAACCAGGGGTGAAGTGGGCAAGTGTGGATGATTCCAGAAGGTAGCTGCCCTACTCTGGGCAGGCCTCTGTCCTCAGTCAGCCAACCTGAGAAATGGGGTAGAAAGCCTCCCCCAGGCTCCCTTCCTGGAACTAAGGTGATCTATATCTGCAGGATGTTTGATGTGGGTGGTCAGCGGTCTGAGCGGAAGAAGTGGATCCACTGCTTTGAGGGCGTCACAGCCATCATCTTCTGCGTAGCCTTGAGCGCCTATGACTTGGTGCTAGCTGAGGACGAGGAGATGGTGAGAGGATGAGAGAATGCTGCGGGTGGGGGCAGCGGGCTTGGGGAGTGGTGGCTAGCGTTGACCTTGCTATTCTACCCCCAGAACCGCATGCATGAGAGCATGAAGCTATTCGATAGCATCTGCAACAACAAGTGGTTCACAGACACGTCCATCATCCTCTTCCTCAACAAGAAGGACCTGTTTGAGGAGAAGATCACACACAGTCCCCTGACCATCTGCTTCCCTGAGTACACAGGTGTGGGGACTGTGGGGATAGGGCCTCCAGAGGGTTGCTTCTTGTCCCAAGTAGCCTATGGTGACCAGGTGGCCCTCAGGCGCCCCCCACTGGACAGAAGTGTAACCTTGGAACACTGGCAGGGGCTGGTGCCTCACTTAGGCTTGTATAGTTGTGTGTGCACACATGAAGCCCTTAACACACTCAAGCATGTACCCCTGAACATGTGTACATGGGCATCCTCCTTCACACAGTGGGGTACCCCTTTGCACATCTGGCATGTATGGGCAGCCACAAACATTGTCATATTATGCACATGCATGCACAGGTTGTATGCCTGGCCGTCCACACGCACAGACCCTTGCTGCACACGTAGGATGCGGCCTGCCTGCCACACATGCAGCACAAGTCTTCATTTTCTCTCCCCCAGGGGCCAACAAATATGATGAGGCAGCCAGCTACATCCAGAGTAAGTTTGAGGACCTGAATAAGCGCAAAGACACCAAGGAGATCTACACGCACTTCACGTGCGCCACCGACACCAAGAACGTGCAGTTCGTGTTTGACGCCGTCACCGATGTCATCATCAAGAACAACCTGAAGGACTGCGGCCTCTTCTGAGGGGCAGCGGGGCCTGGCGGGATGGTGAGCCAGAGGGGCTGTGGCAGGGTGCTGGGGAAGAACTAAGCGGGCCTGGAGCCCCAGCAGGGGGTTCTGGGGGTGGGTAGGGGGGTGAACCTGGAGGGGGAGGGGCAATAGGTGACCAGGGGACAAGGGAGGAGAAGGCCCAGGGTGTGAATCAGGAGGTCAAGTGAGTGAGGTGCAGGGCATGGAGGAGGTCATACAAGCAGGCCTGGCCCAGTGGTCCAGACAGAAGGGCCTGGCCTTGCCCTGGGACAGAACCAGAGGCCATCCTGATGTTCCCTGGAGAAATCTCACCTCCTCACCCACCAGGCCATTGGCCCAGCCTGCCGGAAGCTGCATGCCAGCGGAGCCCAGCCCTGCTGCCCACTACCACCAGCTCCATGTGCACCTCCAGCTCTTGCCCTCTGACTTGTCTGAGCGTCCCGGGCTTAGGCTGGCCCCACTGGCCCTGGTGGAGGTGGGGATGACTCTCCCAGTGCCACAGACTCCCCTCCCCCACGTAACCCAGCAACAGAAACTGGCTCCTGGGCGGCAACTGTGTCCCTGGTAACAAATGGGTAGGAAAAATAGAGAAGGGTCATTGTCTAGGGAGGCGGGAGAGAGGCACGCCCTGGCTGCTTCCCGATCCATGCTCTGCTTTCCCCCACCTCCAGGGCCACCGCCGACTTTGTACCCCCCAACCCCTGAGGAAGATGGGGGCAAGAAGATCACGCTCCCCGCCTGTTCCCCCGCCGCTTTTCTCCTCTTTCCTCTCTTTGTTCTCAGCTCCCCCTGTCCCCTCAGCTCCAGACGTAGGGGAGGGGTTGCCACAGGCCTCCCTGTTTGAAGCCTGCCCTTGTCTGAGATGCTGGTAATGGCCATGGTACCCCCTTCTGGGCATCTGTTCTGGTTTTTAACCATTGTCTTGTTCTGTGATGAGGGGAGGGGGGCACATGCTGAGTCTCCCAAGGCTGCGTCTGGAGGGGCCCCTGCTTCTCCAGCCTGGACCCCCAGCTTTGCCCAACACCAGCCCCTGCCCCAGCCCAAGTCCAAATGTTTACAGGGAGCCTCCTGCCCAGTCCC
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ATGATACTCAAAGGAAGCAGGAATAGAGCCACCTCCAGGCCACCTCCTGCTTCTCCATCATCCTCTTTCTCTATTCTCCAGACATTAGGCACCCACTGTGTGCCCAGCACAGTTTTGGGAGTGAATACAGGCCCTGTTCTCCCAGTCAGGTTTAAGCCTTGATAGCTCCCCCTGGGAATGGGTTGCGGATTGGAACACCACAGGAAGCAGGGCTCCTTCAGCCCCTCTTCGCAGCAACCCTCCAAGTGTGCAGCGAGTCAGGGGGTCCCTGGGGCGAACCCACCTGTTGGGGAAAAGGGAGAGGCTGGTGTGGAATGCACCATGGTACCTCCACATTGAGGACTCTGGCAGTAGGGGGCGGGGCATGGTATGCGGGTCACAGCACATGCGTCATCCTTCCCCATGGCCCTTCCTGTTTTTCTGTTTTGTCCCTGCTACTCTGAGATCATTTCCCTCTGGCCTGGTTTGGCCTGGGTGCTGGTGGGAGCCAAGGGCCAGCCCCAGCAGCCTTGCCCCAGGAATGAAAAGTCAGCTCTGGGCAGCAGCCTGGAGGCCTGGGACCAGCCTCCAGGGCATGGCAGGGATATTGAGGCAGGCAGCAGAGGCAGGCCCTGCAGGGGTAGCCTTGATACTAATTAAGGGAACTGGTAATGAGGAGCCCCTGGGACCCCTGCCAAGCAGGTGTCTGTGCCCTCCCCCTGAGGAACCCAGATTTCATTGGGCGCTGGGCAAAGAGCCCACTGGACCTGGCAGGCCCCAACCTGTCCAGCACCACATCGAGGGACCGCACCCGGCTGCTCTGCGGCTAATGCCGTAATTGCGCCCATTAGCATCCTGAATCCTTCACCGAAGGACTAATTTGCCTCCTCCCACCCTCTTTGCCTATAGCTCCAACATCCTGGATCCTGTCCGAGGCAGGTCTGGCTCAGACCCTGGGTGCTGGAGCTTGGCTGGCTAGCTGTCCACAGAGCTGCACCTCCTCCCATTCCCATTCTACAGGTGGGAGGCCGGGGGCTCTGAGTTCAGGTTTCTTCATTTGAGCAATGAGGTAATGCAGGCAGGGGTTAAAGAAACAAGGGCTGTGCCTAGGCCAGGCGCAGTGGCTCACGCCTGTAATCCCAGCACTCTGGGAGGCCGAGGTGGGCGGATCACCTGAGGTTGAGAGGTCAAGACCATCCTGGCCAACATGGTGAAACCCCGTCTCTACTAAAAATACAAAAATTAGCTGGGCGGCAGGCGCCTGTAGTCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATCGCTTGAACCTGGCAGGCAGAGGTTGCAGTGAGCCAAGATCATGCCACTGCACTCCAGCCTGGCAACAGAGTAACACTCTGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAAAGCAAGGGCTGTGCTTGAGAAATGGCATGGGAGGGAAGGGGCCTCTTGCAGCTGGCCCAGGGTCCAGCTAAGGAAGCCCCATGCTGGCCCCCACTGACCCTCCCACCCCCCATCCCCAGCTACCTGAACGACCTGGAGCGTATTGCACAGAGTGACTACATCCCCACACAGCAAGATGTGCTACGGACCCGCGTAAAGACCACGGGGATCGTGGAGACACACTTCACCTTCAAGGACCTACACTTCAAGTGAGCGAGCATGTGGACAGGTGGGAGGGGCAGGACCTGCCAGCCTCTGGGGTAGCAGAGGCAGGGGCTGGTCCAGGATCCCCCAGCCCCACTGAGGTTTTACAAGGCTCATGTGTTCTGGGCAAGCACATCCTCACCACCTAGTGAACCAGCAGTCAGGATCCACGCCACCTCTGCCAGCTGCTCACAGCCTCTGCTGCTCCTGCCTGATGTGGCTGCAGCCTGCCTGCTGTCCAAGCTCCTGGCCCAGAACCAGGGGTGAAGTGGGCAAGTGTGGATGATTCCAGAAGGTAGCTGCCCTACTCTGGGCAGGCCTCTGTCCTCAGTCAGCCAACCTGAGAAATGGGGTAGAAAGCCTCCCCCAGGCTCCCTTCCTGGAACTAAGGTGATCTATATCTGCAGGATGTTAGATGTGGGTGGTCAGCGGTCTGAGCGGAAGAAGTGGATCCACTGCTTTGAGGGCGTCACAGCCATCATCTTCTGCGTAGCCTTGAGCGCCTATGACTTGGTGCTAGCTGAGGACGAGGAGATGGTGAGAGGATGAGAGAATGCTGCGGGTGGGGGCAGCGGGCTTGGGGAGTGGTGGCTAGCGTTGACCTTGCTATTCTACCCCCAGAACCGCATGCATGAGAGCATGAAGCTATTCGATAGCATCTGCAACAACAAGTGGTTCACAGACACGTCCATCATCCTCTTCCTCAACAAGAAGGACCTGTTTGAGGAGAAGATCACACACAGTCCCCTGACCATCTGCTTCCCTGAGTACACAGGTGTGGGGACTGTGGGGATAGGGCCTCCAGAGGGTTGCTTCTTGTCCCAAGTAGCCTATGGTGACCAGGTGGCCCTCAGGCGCCCCCCACTGGACAGAAGTGTAACCTTGGAACACTGGCAGGGGCTGGTGCCTCACTTAGGCTTGTATAGTTGTGTGTGCACACATGAAGCCCTTAACACACTCAAGCATGTACCCCTGAACATGTGTACATGGGCATCCTCCTTCACACAGTGGGGTACCCCTTTGCACATCTGGCATGTATGGGCAGCCACAAACATTGTCATATTATGCACATGCATGCACAGGTTGTATGCCTGGCCGTCCACACGCACAGACCCTTGCTGCACACGTAGGATGCGGCCTGCCTGCCACACATGCAGCACAAGTCTTCATTTTCTCTCCCCCAGGGGCCAACAAATATGATGAGGCAGCCAGCTACATCCAGAGTAAGTTTGAGGACCTGAATAAGCGCAAAGACACCAAGGAGATCTACACGCACTTCACGTGCGCCACCGACACCAAGAACGTGCAGTTCGTGTTTGACGCCGTCACCGATGTCATCATCAAGAACAACCTGAAGGACTGCGGCCTCTTCTGAGGGGCAGCGGGGCCTGGCGGGATGGTGAGCCAGAGGGGCTGTGGCAGGGTGCTGGGGAAGAACTAAGCGGGCCTGGAGCCCCAGCAGGGGGTTCTGGGGGTGGGTAGGGGGGTGAACCTGGAGGGGGAGGGGCAATAGGTGACCAGGGGACAAGGGAGGAGAAGGCCCAGGGTGTGAATCAGGAGGTCAAGTGAGTGAGGTGCAGGGCATGGAGGAGGTCATACAAGCAGGCCTGGCCCAGTGGTCCAGACAGAAGGGCCTGGCCTTGCCCTGGGACAGAACCAGAGGCCATCCTGATGTTCCCTGGAGAAATCTCACCTCCTCACCCACCAGGCCATTGGCCCAGCCTGCCGGAAGCTGCATGCCAGCGGAGCCCAGCCCTGCTGCCCACTACCACCAGCTCCATGTGCACCTCCAGCTCTTGCCCTCTGACTTGTCTGAGCGTCCCGGGCTTAGGCTGGCCCCACTGGCCCTGGTGGAGGTGGGGATGACTCTCCCAGTGCCACAGACTCCCCTCCCCCACGTAACCCAGCAACAGAAACTGGCTCCTGGGCGGCAACTGTGTCCCTGGTAACAAATGGGTAGGAAAAATAGAGAAGGGTCATTGTCTAGGGAGGCGGGAGAGAGGCACGCCCTGGCTGCTTCCCGATCCATGCTCTGCTTTCCCCCACCTCCAGGGCCACCGCCGACTTTGTACCCCCCAACCCCTGAGGAAGATGGGGGCAAGAAGATCACGCTCCCCGCCTGTTCCCCCGCCGCTTTTCTCCTCTTTCCTCTCTTTGTTCTCAGCTCCCCCTGTCCCCTCAGCTCCAGACGTAGGGGAGGGGTTGCCACAGGCCTCCCTGTTTGAAGCCTGCCCTTGTCTGAGATGCTGGTAATGGCCATGGTACCCCCTTCTGGGCATCTGTTCTGGTTTTTAACCATTGTCTTGTTCTGTGATGAGGGGAGGGGGGCACATGCTGAGTCTCCCAAGGCTGCGTCTGGAGGGGCCCCTGCTTCTCCAGCCTGGACCCCCAGCTTTGCCCAACACCAGCCCCTGCCCCAGCCCAAGTCCAAATGTTTACAGGGAGCCTCCTGCCCAGTCCC
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Task1_train_7046
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Given a variant located on Chromosome 3 and affecting HYAL2 (hyaluronidase 2), assess whether it is benign or pathogenic. Indicate the associated disease if pathogenic.
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Pathogenic; HYAL2 deficiency
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GCCTTGGCCTCCCAAAGTGCTGGGATTACAGGGGTGAGCCACCGCACCCGGCCCATCATTTTATTGACCAACACCTGAATCTTCTCTCCAGCCTGGCCTCCCCCCACCATGGCCATGAGCACCTGGGACCCCTCCACTTGTATGTGCACCTCCTCCTTCACTGTGTGAATTTACCACGTCACCTTTCCAGTGTTACCACCTCACTCTCTCCTCTCCATTCTCTACCCATCACCGGCGAAAGAGGTGAGGGAAGGATATCTTTACAGCCTGGGTTGGCACTGGCTTGGCCGGGCTTGTTTCTCCCATCTGGCATCTCGGTCTTTGCATCTAGTGTGCATCTACCTCTATTTTGTCACTCCCACAAGGACGGGGGTCTTTGTTGGTGTGGTTCATAGATGCATCATCGATGCATCCCCAGCACCTAGCCCAGCACAGGCACACTGTGTGCTCAGCGTTTACTGAATGAGTAAGTCAGTATTAGGTGAAGTCAGGCCTGGTGCTGCTCTAGGGCTGCCCCTCCTGCCTCTGCCCACAGCAGCCACTAAGCCACACCCCAGCCCTGAACTGTTCACCTTCACCACCTCCAACTTCCTCCAGCCTCTGCCCAGGATTTGTTCCTGAGCATCGAGCTGCCGCCCTCACCTTTTAGAACCCAATGTGGGAAGCATCTCCAAGGGCACCACCCCTGCTCCCCTGCTGCTGGCTGCCCTCACCACTCAACGGCTTCTTGAGTCTGTCTCCCCAGAGCCAGAGCCTCCTGAAGCAGGGCTGCGTGGTGAGTCATCACGGACATGGGCGGGACCCCAGGTGTGGGGTTGCTGGCTGAGGGGAGAGGCAGAATGCACTCCCGTCAGAGGCAGGGCTAGTGAAGCAGCTCAGAGCTGGTCTGACAACTCCAGCTGCTCCTTCTTTCCTCAGGGACAGCCAGAGACTAGCCATACTCTCCCACAGCCAGGACGGAGCAGACCTTAGAAGATGTTCCTGCTCCCAGGCCCAAGATGCCACCTCCCAGCCCCATCAGGCATCTCTAGAATGGGACAGGGACTGAACCTCACGATTCAGATCCCAATCCCCTGCCCACCTCCCACCACCAGATCCGAGGGAGGGCTGTGACCCTGATGAGAGGTGTATGTGGCTGGTGTCCACTGCCCTTGGGAGCAGGGACTGGAGGAGACACCCTTGCCTGTGGGAACAGCAGGGAAGATCAAACGTTTCTCCCTTGGGTTGGCAAGGAGGCTGGCACTGGTCCAGCTGGGAGGACAGGGGCAAGTGGCAGAAACACAATGAGCCCTGTCCCTCACACAAGGCGGGGCCTGACTCCCTTGCAACCAATACGGAGAAAGCAACGTCCTTGGTGTTGGGATGGAATGTGGGTCCCTCCACTCCCACTGGGGTGGCTCCTGCCCCAGCAGAACAGCTCCAGAGTGGGCAGCTCTGGGCCCCCAAGTCTTGGTGAATACATCTTACACGAGAAGTCCCCAGCAGAGGGTTTCATAGAGACAGAGCTGAGCTCAAACCCCATGGGAAATTCTGGAATCTCGCATACACTTTAGCCCAGGTACAAAATCCAAGCAGAGAAGCAATTGTTTTATGTTTAATTTACAAAAGAGACCCCAAAATAATAATAATAATAAACTATCTAGGGCAAGGGAGTAGGGTCAGGTCCTCCCCAGCCCAGCTGTACCCTCCTTCCCCTCTGGCAGGGAGAGAAGGGGCCTCCCAGGGACTTCCCCTCCCCCTTAGAACAGGGGGGTGCGAGCTGGTATGGATGCCCTCCTGGGCTTCCTGGGGGCTCTGCCCACTCCAGACTCCAGTTTGTCCACCCCCTGCAGGGTCCTACATGCCTAAGAGAGCCCTTGTGGTAGAGGCCAGCTTGCTAGGCAGCTAGGCAGGAGACCCCTACAAGGTCCAGGTAAAGGCCAGGGCTGCCAGAGCCAGCAGACTGGTGAGGTGGGACCCAGCCCAGGCCTCGCTGGCACCTCCAGCTGCCTGCCTATGGTCCCACTGGCATTGCTCACCACTCCAGCCCAAGTAGCACTGGCAGCGGAAGTGTGTCTGCAGGTGGTCAATGTCGGCCCAACTGAGCTCCCCCACAGGTCGCAGCTGGGGTTCACCAGGTGCATGGCCAGGCACTAGGCGGAAACTGTTGGTGCTGAGATGCAGGAAGGTACTGGCACTGGGGTTGCGGCGCACACAGCGCCCATGGCCATGGCACTGGGCCCGGCTGCAATATTGGGTGGCCCAGGACACATTGACCACGTAGGGGACCAGCAGCCGTGTCAGGTAATCTTTGAGGTACTGGCAGGTCTCCTGGAGGCAGAAGACAAGGACCACAGGTCAGGGTCAGCTGCCTCAGCCCACAGGCCCAGATGGAAACTGTGTCCACACTGTGATGACTATACCTTATTTTAACTGCACACATTCATACATTCAATCTGCACCTGAGCCACACAGTCCCTGCTCCTGCTGAGAAGTGGGTGGGGGTACAGACCGGAACCCAGTTGGGCAGATGGGGAAGGGCGGAACTCAACAGCTGTTCAGGACAGCATTTCCTCTTTCCTGAGAGCAGGGCCGGGGTGACCTCCTCCTGTTGCCACCAGGGATGCCTCGGGTGGGAGACAGACAAGGGGACCAGACTAGGATTGCCCACCTGAGGTTGGTAGCCAAAGGCCCTAACTCTCTGTCTGTCCCATAGACTGAGCTCTGGCAGGCTGGGTCTCGCTTACCGTGCTTGTGGTGTACCCCGCGTCACCCCAGAGGATGACACCAGCTGCGCCCAGGGCCGCACTCTCGCCAATGGTAGAGATGAGGTCCATCTATGCAGGAAAAGGGATGGTCACTGGGGAAGACTGAGACCACAGGGTGACAGGAACAGACAAGGAGGGCAGACCCCAGCCTGATTCAACCTGCTGAACTCCCAGCTCAACCCCCATTTCACGTCCAGGCAGAGGCTCATTTGTTTTGCTTCCTTTTTAAACATTTAAGTCCATTTCCACCCCACTTTTGGGGCTCAGTTTCCCAAGCCAAGGGCACACTTGAGCCTAGGTGCAGCTATCAGGATGGATTCCAAAGTTAGAAGGCCTGGGCCCCAGTCCCAGCTCTGCTCTGGATTTGCTGGGAAGCTTTGGGCAAACTTCTCAGCATCGCTGTGCCTCAATTGTTCTCATCTGAAAAATGGGGATAATGATGTCACCCTTTCAGGTTATAGACAGAATGATTTGAGGGGATGTGGAGCAGCCAATAAACTACAGGTATAGTCCTATAGTGGCCCCTGATAACCCAAATGTGCAGTGGATCCTCAAGGAAGGAGAAAAAAGGCAGGGCCCTGGAGACACATACCTCACTAAGCCCCGTGAGCCTGCGGCTGTAGGTGGGTCGTGTGAAGACGTAGACTGGGAGTGCATGGTTGGCATGGTGGGTGCGAGCCACACGAAGGGCCTCCTGAACACGGAAGCTCACAAAGTTGCGGCCATGGCGGGAGGAAGCAAGTGTCTCGTCCAGGTAGACAGACGGGAAGAGGGCCGTGCTCTCAGCCCACAGCCAGGCCAGCTGGTCATTGCGGGCCACCTCAACATCAGGGCAGCGGCCTGTGTAGCTCTCCCAGTTCTGCACATAATCATGATTGTAGCAGTCAGGAAAGAGGTAGAAGCCCCAGAGGTGCCGGGGCCGCACTGCCTTGACATAACGCAGTGTCTCCAGCATGAACTGCTGTGCTGCGAACTCAAACTCATATTGTGCCTGTTTGACTATGCGGTCTGGAGGCCAGTCAGGGTGACGACTGGCCACTAGCTGGCGTGATAACCGGCGATACACATCTTTGTCCTGCCAGTTGCGCACCCACACAGGTCGCCAGTCCTCCCAGTCGATGACCGCCAGCCCCGCAGACTCCTGTGTCCGAATGTAGTGCTCCACACGTTTCTGCAGCATCTTCCGGTGTGCCCAAAGGCTGACATTCTGTGGCACACCACCATGCACAGACCTTCCGGCAGAATCGAAGCGTGGATACAGGCCTAGACGGTCGCGGTAGAAGATGGTAATATTCTGGTTCACAAAACCCTCATTAGGTGAGGCCTGCACATCAAAGGCATTCAGGTCC
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GCCTTGGCCTCCCAAAGTGCTGGGATTACAGGGGTGAGCCACCGCACCCGGCCCATCATTTTATTGACCAACACCTGAATCTTCTCTCCAGCCTGGCCTCCCCCCACCATGGCCATGAGCACCTGGGACCCCTCCACTTGTATGTGCACCTCCTCCTTCACTGTGTGAATTTACCACGTCACCTTTCCAGTGTTACCACCTCACTCTCTCCTCTCCATTCTCTACCCATCACCGGCGAAAGAGGTGAGGGAAGGATATCTTTACAGCCTGGGTTGGCACTGGCTTGGCCGGGCTTGTTTCTCCCATCTGGCATCTCGGTCTTTGCATCTAGTGTGCATCTACCTCTATTTTGTCACTCCCACAAGGACGGGGGTCTTTGTTGGTGTGGTTCATAGATGCATCATCGATGCATCCCCAGCACCTAGCCCAGCACAGGCACACTGTGTGCTCAGCGTTTACTGAATGAGTAAGTCAGTATTAGGTGAAGTCAGGCCTGGTGCTGCTCTAGGGCTGCCCCTCCTGCCTCTGCCCACAGCAGCCACTAAGCCACACCCCAGCCCTGAACTGTTCACCTTCACCACCTCCAACTTCCTCCAGCCTCTGCCCAGGATTTGTTCCTGAGCATCGAGCTGCCGCCCTCACCTTTTAGAACCCAATGTGGGAAGCATCTCCAAGGGCACCACCCCTGCTCCCCTGCTGCTGGCTGCCCTCACCACTCAACGGCTTCTTGAGTCTGTCTCCCCAGAGCCAGAGCCTCCTGAAGCAGGGCTGCGTGGTGAGTCATCACGGACATGGGCGGGACCCCAGGTGTGGGGTTGCTGGCTGAGGGGAGAGGCAGAATGCACTCCCGTCAGAGGCAGGGCTAGTGAAGCAGCTCAGAGCTGGTCTGACAACTCCAGCTGCTCCTTCTTTCCTCAGGGACAGCCAGAGACTAGCCATACTCTCCCACAGCCAGGACGGAGCAGACCTTAGAAGATGTTCCTGCTCCCAGGCCCAAGATGCCACCTCCCAGCCCCATCAGGCATCTCTAGAATGGGACAGGGACTGAACCTCACGATTCAGATCCCAATCCCCTGCCCACCTCCCACCACCAGATCCGAGGGAGGGCTGTGACCCTGATGAGAGGTGTATGTGGCTGGTGTCCACTGCCCTTGGGAGCAGGGACTGGAGGAGACACCCTTGCCTGTGGGAACAGCAGGGAAGATCAAACGTTTCTCCCTTGGGTTGGCAAGGAGGCTGGCACTGGTCCAGCTGGGAGGACAGGGGCAAGTGGCAGAAACACAATGAGCCCTGTCCCTCACACAAGGCGGGGCCTGACTCCCTTGCAACCAATACGGAGAAAGCAACGTCCTTGGTGTTGGGATGGAATGTGGGTCCCTCCACTCCCACTGGGGTGGCTCCTGCCCCAGCAGAACAGCTCCAGAGTGGGCAGCTCTGGGCCCCCAAGTCTTGGTGAATACATCTTACACGAGAAGTCCCCAGCAGAGGGTTTCATAGAGACAGAGCTGAGCTCAAACCCCATGGGAAATTCTGGAATCTCGCATACACTTTAGCCCAGGTACAAAATCCAAGCAGAGAAGCAATTGTTTTATGTTTAATTTACAAAAGAGACCCCAAAATAATAATAATAATAAACTATCTAGGGCAAGGGAGTAGGGTCAGGTCCTCCCCAGCCCAGCTGTACCCTCCTTCCCCTCTGGCAGGGAGAGAAGGGGCCTCCCAGGGACTTCCCCTCCCCCTTAGAACAGGGGGGTGCGAGCTGGTATGGATGCCCTCCTGGGCTTCCTGGGGGCTCTGCCCACTCCAGACTCCAGTTTGTCCACCCCCTGCAGGGTCCTACATGCCTAAGAGAGCCCTTGTGGTAGAGGCCAGCTTGCTAGGCAGCTAGGCAGGAGACCCCTACAAGGTCCAGGTAAAGGCCAGGGCTGCCAGAGCCAGCAGACTGGTGAGGTGGGACCCAGCCCAGGCCTCGCTGGCACCTCCAGCTGCCTGCCTATGGTCCCACTGGCATTGCTCACCACTCCAGCCCAAGTAGCACTGGCAGCGGACGTGTGTCTGCAGGTGGTCAATGTCGGCCCAACTGAGCTCCCCCACAGGTCGCAGCTGGGGTTCACCAGGTGCATGGCCAGGCACTAGGCGGAAACTGTTGGTGCTGAGATGCAGGAAGGTACTGGCACTGGGGTTGCGGCGCACACAGCGCCCATGGCCATGGCACTGGGCCCGGCTGCAATATTGGGTGGCCCAGGACACATTGACCACGTAGGGGACCAGCAGCCGTGTCAGGTAATCTTTGAGGTACTGGCAGGTCTCCTGGAGGCAGAAGACAAGGACCACAGGTCAGGGTCAGCTGCCTCAGCCCACAGGCCCAGATGGAAACTGTGTCCACACTGTGATGACTATACCTTATTTTAACTGCACACATTCATACATTCAATCTGCACCTGAGCCACACAGTCCCTGCTCCTGCTGAGAAGTGGGTGGGGGTACAGACCGGAACCCAGTTGGGCAGATGGGGAAGGGCGGAACTCAACAGCTGTTCAGGACAGCATTTCCTCTTTCCTGAGAGCAGGGCCGGGGTGACCTCCTCCTGTTGCCACCAGGGATGCCTCGGGTGGGAGACAGACAAGGGGACCAGACTAGGATTGCCCACCTGAGGTTGGTAGCCAAAGGCCCTAACTCTCTGTCTGTCCCATAGACTGAGCTCTGGCAGGCTGGGTCTCGCTTACCGTGCTTGTGGTGTACCCCGCGTCACCCCAGAGGATGACACCAGCTGCGCCCAGGGCCGCACTCTCGCCAATGGTAGAGATGAGGTCCATCTATGCAGGAAAAGGGATGGTCACTGGGGAAGACTGAGACCACAGGGTGACAGGAACAGACAAGGAGGGCAGACCCCAGCCTGATTCAACCTGCTGAACTCCCAGCTCAACCCCCATTTCACGTCCAGGCAGAGGCTCATTTGTTTTGCTTCCTTTTTAAACATTTAAGTCCATTTCCACCCCACTTTTGGGGCTCAGTTTCCCAAGCCAAGGGCACACTTGAGCCTAGGTGCAGCTATCAGGATGGATTCCAAAGTTAGAAGGCCTGGGCCCCAGTCCCAGCTCTGCTCTGGATTTGCTGGGAAGCTTTGGGCAAACTTCTCAGCATCGCTGTGCCTCAATTGTTCTCATCTGAAAAATGGGGATAATGATGTCACCCTTTCAGGTTATAGACAGAATGATTTGAGGGGATGTGGAGCAGCCAATAAACTACAGGTATAGTCCTATAGTGGCCCCTGATAACCCAAATGTGCAGTGGATCCTCAAGGAAGGAGAAAAAAGGCAGGGCCCTGGAGACACATACCTCACTAAGCCCCGTGAGCCTGCGGCTGTAGGTGGGTCGTGTGAAGACGTAGACTGGGAGTGCATGGTTGGCATGGTGGGTGCGAGCCACACGAAGGGCCTCCTGAACACGGAAGCTCACAAAGTTGCGGCCATGGCGGGAGGAAGCAAGTGTCTCGTCCAGGTAGACAGACGGGAAGAGGGCCGTGCTCTCAGCCCACAGCCAGGCCAGCTGGTCATTGCGGGCCACCTCAACATCAGGGCAGCGGCCTGTGTAGCTCTCCCAGTTCTGCACATAATCATGATTGTAGCAGTCAGGAAAGAGGTAGAAGCCCCAGAGGTGCCGGGGCCGCACTGCCTTGACATAACGCAGTGTCTCCAGCATGAACTGCTGTGCTGCGAACTCAAACTCATATTGTGCCTGTTTGACTATGCGGTCTGGAGGCCAGTCAGGGTGACGACTGGCCACTAGCTGGCGTGATAACCGGCGATACACATCTTTGTCCTGCCAGTTGCGCACCCACACAGGTCGCCAGTCCTCCCAGTCGATGACCGCCAGCCCCGCAGACTCCTGTGTCCGAATGTAGTGCTCCACACGTTTCTGCAGCATCTTCCGGTGTGCCCAAAGGCTGACATTCTGTGGCACACCACCATGCACAGACCTTCCGGCAGAATCGAAGCGTGGATACAGGCCTAGACGGTCGCGGTAGAAGATGGTAATATTCTGGTTCACAAAACCCTCATTAGGTGAGGCCTGCACATCAAAGGCATTCAGGTCC
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Task1_train_7047
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A genomic change on Chromosome 3 affects HYAL2 (hyaluronidase 2). Classify this variant as benign or pathogenic, and name the disease if relevant.
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Pathogenic; HYAL2-related disorder
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TCCCACTGGGGTGGCTCCTGCCCCAGCAGAACAGCTCCAGAGTGGGCAGCTCTGGGCCCCCAAGTCTTGGTGAATACATCTTACACGAGAAGTCCCCAGCAGAGGGTTTCATAGAGACAGAGCTGAGCTCAAACCCCATGGGAAATTCTGGAATCTCGCATACACTTTAGCCCAGGTACAAAATCCAAGCAGAGAAGCAATTGTTTTATGTTTAATTTACAAAAGAGACCCCAAAATAATAATAATAATAAACTATCTAGGGCAAGGGAGTAGGGTCAGGTCCTCCCCAGCCCAGCTGTACCCTCCTTCCCCTCTGGCAGGGAGAGAAGGGGCCTCCCAGGGACTTCCCCTCCCCCTTAGAACAGGGGGGTGCGAGCTGGTATGGATGCCCTCCTGGGCTTCCTGGGGGCTCTGCCCACTCCAGACTCCAGTTTGTCCACCCCCTGCAGGGTCCTACATGCCTAAGAGAGCCCTTGTGGTAGAGGCCAGCTTGCTAGGCAGCTAGGCAGGAGACCCCTACAAGGTCCAGGTAAAGGCCAGGGCTGCCAGAGCCAGCAGACTGGTGAGGTGGGACCCAGCCCAGGCCTCGCTGGCACCTCCAGCTGCCTGCCTATGGTCCCACTGGCATTGCTCACCACTCCAGCCCAAGTAGCACTGGCAGCGGAAGTGTGTCTGCAGGTGGTCAATGTCGGCCCAACTGAGCTCCCCCACAGGTCGCAGCTGGGGTTCACCAGGTGCATGGCCAGGCACTAGGCGGAAACTGTTGGTGCTGAGATGCAGGAAGGTACTGGCACTGGGGTTGCGGCGCACACAGCGCCCATGGCCATGGCACTGGGCCCGGCTGCAATATTGGGTGGCCCAGGACACATTGACCACGTAGGGGACCAGCAGCCGTGTCAGGTAATCTTTGAGGTACTGGCAGGTCTCCTGGAGGCAGAAGACAAGGACCACAGGTCAGGGTCAGCTGCCTCAGCCCACAGGCCCAGATGGAAACTGTGTCCACACTGTGATGACTATACCTTATTTTAACTGCACACATTCATACATTCAATCTGCACCTGAGCCACACAGTCCCTGCTCCTGCTGAGAAGTGGGTGGGGGTACAGACCGGAACCCAGTTGGGCAGATGGGGAAGGGCGGAACTCAACAGCTGTTCAGGACAGCATTTCCTCTTTCCTGAGAGCAGGGCCGGGGTGACCTCCTCCTGTTGCCACCAGGGATGCCTCGGGTGGGAGACAGACAAGGGGACCAGACTAGGATTGCCCACCTGAGGTTGGTAGCCAAAGGCCCTAACTCTCTGTCTGTCCCATAGACTGAGCTCTGGCAGGCTGGGTCTCGCTTACCGTGCTTGTGGTGTACCCCGCGTCACCCCAGAGGATGACACCAGCTGCGCCCAGGGCCGCACTCTCGCCAATGGTAGAGATGAGGTCCATCTATGCAGGAAAAGGGATGGTCACTGGGGAAGACTGAGACCACAGGGTGACAGGAACAGACAAGGAGGGCAGACCCCAGCCTGATTCAACCTGCTGAACTCCCAGCTCAACCCCCATTTCACGTCCAGGCAGAGGCTCATTTGTTTTGCTTCCTTTTTAAACATTTAAGTCCATTTCCACCCCACTTTTGGGGCTCAGTTTCCCAAGCCAAGGGCACACTTGAGCCTAGGTGCAGCTATCAGGATGGATTCCAAAGTTAGAAGGCCTGGGCCCCAGTCCCAGCTCTGCTCTGGATTTGCTGGGAAGCTTTGGGCAAACTTCTCAGCATCGCTGTGCCTCAATTGTTCTCATCTGAAAAATGGGGATAATGATGTCACCCTTTCAGGTTATAGACAGAATGATTTGAGGGGATGTGGAGCAGCCAATAAACTACAGGTATAGTCCTATAGTGGCCCCTGATAACCCAAATGTGCAGTGGATCCTCAAGGAAGGAGAAAAAAGGCAGGGCCCTGGAGACACATACCTCACTAAGCCCCGTGAGCCTGCGGCTGTAGGTGGGTCGTGTGAAGACGTAGACTGGGAGTGCATGGTTGGCATGGTGGGTGCGAGCCACACGAAGGGCCTCCTGAACACGGAAGCTCACAAAGTTGCGGCCATGGCGGGAGGAAGCAAGTGTCTCGTCCAGGTAGACAGACGGGAAGAGGGCCGTGCTCTCAGCCCACAGCCAGGCCAGCTGGTCATTGCGGGCCACCTCAACATCAGGGCAGCGGCCTGTGTAGCTCTCCCAGTTCTGCACATAATCATGATTGTAGCAGTCAGGAAAGAGGTAGAAGCCCCAGAGGTGCCGGGGCCGCACTGCCTTGACATAACGCAGTGTCTCCAGCATGAACTGCTGTGCTGCGAACTCAAACTCATATTGTGCCTGTTTGACTATGCGGTCTGGAGGCCAGTCAGGGTGACGACTGGCCACTAGCTGGCGTGATAACCGGCGATACACATCTTTGTCCTGCCAGTTGCGCACCCACACAGGTCGCCAGTCCTCCCAGTCGATGACCGCCAGCCCCGCAGACTCCTGTGTCCGAATGTAGTGCTCCACACGTTTCTGCAGCATCTTCCGGTGTGCCCAAAGGCTGACATTCTGTGGCACACCACCATGCACAGACCTTCCGGCAGAATCGAAGCGTGGATACAGGCCTAGACGGTCGCGGTAGAAGATGGTAATATTCTGGTTCACAAAACCCTCATTAGGTGAGGCCTGCACATCAAAGGCATTCAGGTCCAGTGGCACCTTGAGGCGTGGGCCACAGTCCTGTGTGGGCACGTCCCACGCTACCACAAAGGGCCGGCCAGTGAAGATGGGTGGTGCTGTGGGCTTGAGCTCCATGGCCCATGACACCGCCAGCACCAGGGCCAATGTAACGGTGGGGCCTGGGCCTGCCCGCATGCTGGGGGCTGCAGGAGGTGTCACCTGCCTGGCACCAGCTCAGGAACTGGAAGAAGGGTTGGGGAGAACAAGTCAGTCTAGGGAATACTGGAAGTGCCCACCTCAAGCCCATCTATGCTCCCAAAGCCCATGCTGTGTGGGGGCACTGTGCTCATGGCTGTAATAGGTTTGAGAGACCACAGGCCACTGCAGGGCAGACAAGGCACCCTGGGAACTCACTGCCAGAAGCACAGGGCTCTTTTCTGGAGCAGGTAGCCTGTGGCTCGGCACAAATCTCTATTAGGTCTGTGACCCTTCTAAGAACTAGATAATTTGGGCTCACCAGAGTCACATATATGCCTGCATACCATCCAGTACATGGTTTCAGAGAACCCTGAACAGCTGATGCCCACCCTGTACACCGTGAAGAACCCTTGATCCAGAGAAACGACAGCATTTGGGTAAAGCAGGGAACAGCTCGTCAAGAGGCTACGAAACTGGAAGGAACGCTGCCGGGAGGCTTCTATCCGTGTAACACTCGCCCGGCAGAAGAGTGAGGCTCTCCGGACTTTCTCTCGAGCGCTGACACTCTCCCGGCTTGGAGGAGGCCCCGTAGGGACAAAGGGGCAGCGGACCTCCCACGGCGGCGCCGGCCGCCCGGCCCTTCCCTCCACCGCCACCGGGAATGCGCGCGCTCGCCTCCCCCGCCCGGCCGCTCAGGGCTAGAGCGCGCTCCGCCGGGTCTTTGTGCGGGACCCCGCCCCCGCCCCACACGTGGGGCCTGCGCCCGGTCGGGTGGGGGTGGGGTTTCTGGGACGCCTCTCCGCGAGCACCCCCGGGGATTCAGACCCCAGCCCAAGGGGAGAGAGCCGCCAGGTTTGCACCGCCCGCCCTCACCTCGCGCGGGGCGCCACCGGGACCGGCGCCAGGGCCACCGCCATCCCGGGCCCAGCCCAGCCCGCTCCGGCCGTTCGCCCAGGCGCGGCCCGGCTCAGCGCCTCTGCTGGCTCCGCCCCCAGGCACGCTGGCCCTTTAAGACTCCAGTGCGGAGGTGGGCCCGGGATTGGACTTGCGGACGGGGCGGGAAGGTGTGGTCCACCTTTCTCGGTGCCGGTGCCTCGTTTCGGGCTCGAAGAGCCCCAGGTCCTCTGCAGAGGGACGTGGCCGCCCATTTAGGACCCTAATGCCCCTCTGAGCCGGGCTTTCTATGGGAGTCTCAGCCACGAGCGCCAGTCAGCCT
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TCCCACTGGGGTGGCTCCTGCCCCAGCAGAACAGCTCCAGAGTGGGCAGCTCTGGGCCCCCAAGTCTTGGTGAATACATCTTACACGAGAAGTCCCCAGCAGAGGGTTTCATAGAGACAGAGCTGAGCTCAAACCCCATGGGAAATTCTGGAATCTCGCATACACTTTAGCCCAGGTACAAAATCCAAGCAGAGAAGCAATTGTTTTATGTTTAATTTACAAAAGAGACCCCAAAATAATAATAATAATAAACTATCTAGGGCAAGGGAGTAGGGTCAGGTCCTCCCCAGCCCAGCTGTACCCTCCTTCCCCTCTGGCAGGGAGAGAAGGGGCCTCCCAGGGACTTCCCCTCCCCCTTAGAACAGGGGGGTGCGAGCTGGTATGGATGCCCTCCTGGGCTTCCTGGGGGCTCTGCCCACTCCAGACTCCAGTTTGTCCACCCCCTGCAGGGTCCTACATGCCTAAGAGAGCCCTTGTGGTAGAGGCCAGCTTGCTAGGCAGCTAGGCAGGAGACCCCTACAAGGTCCAGGTAAAGGCCAGGGCTGCCAGAGCCAGCAGACTGGTGAGGTGGGACCCAGCCCAGGCCTCGCTGGCACCTCCAGCTGCCTGCCTATGGTCCCACTGGCATTGCTCACCACTCCAGCCCAAGTAGCACTGGCAGCGGAAGTGTGTCTGCAGGTGGTCAATGTCGGCCCAACTGAGCTCCCCCACAGGTCGCAGCTGGGGTTCACCAGGTGCATGGCCAGGCACTAGGCGGAAACTGTTGGTGCTGAGATGCAGGAAGGTACTGGCACTGGGGTTGCGGCGCACACAGCGCCCATGGCCATGGCACTGGGCCCGGCTGCAATATTGGGTGGCCCAGGACACATTGACCACGTAGGGGACCAGCAGCCGTGTCAGGTAATCTTTGAGGTACTGGCAGGTCTCCTGGAGGCAGAAGACAAGGACCACAGGTCAGGGTCAGCTGCCTCAGCCCACAGGCCCAGATGGAAACTGTGTCCACACTGTGATGACTATACCTTATTTTAACTGCACACATTCATACATTCAATCTGCACCTGAGCCACACAGTCCCTGCTCCTGCTGAGAAGTGGGTGGGGGTACAGACCGGAACCCAGTTGGGCAGATGGGGAAGGGCGGAACTCAACAGCTGTTCAGGACAGCATTTCCTCTTTCCTGAGAGCAGGGCCGGGGTGACCTCCTCCTGTTGCCACCAGGGATGCCTCGGGTGGGAGACAGACAAGGGGACCAGACTAGGATTGCCCACCTGAGGTTGGTAGCCAAAGGCCCTAACTCTCTGTCTGTCCCATAGACTGAGCTCTGGCAGGCTGGGTCTCGCTTACCGTGCTTGTGGTGTACCCCGCGTCACCCCAGAGGATGACACCAGCTGCGCCCAGGGCCGCACTCTCGCCAATGGTAGAGATGAGGTCCATCTATGCAGGAAAAGGGATGGTCACTGGGGAAGACTGAGACCACAGGGTGACAGGAACAGACAAGGAGGGCAGACCCCAGCCTGATTCAACCTGCTGAACTCCCAGCTCAACCCCCATTTCACGTCCAGGCAGAGGCTCATTTGTTTTGCTTCCTTTTTAAACATTTAAGTCCATTTCCACCCCACTTTTGGGGCTCAGTTTCCCAAGCCAAGGGCACACTTGAGCCTAGGTGCAGCTATCAGGATGGATTCCAAAGTTAGAAGGCCTGGGCCCCAGTCCCAGCTCTGCTCTGGATTTGCTGGGAAGCTTTGGGCAAACTTCTCAGCATCGCTGTGCCTCAATTGTTCTCATCTGAAAAATGGGGATAATGATGTCACCCTTTCAGGTTATAGACAGAATGATTTGAGGGGATGTGGAGCAGCCAATAAACTACAGGTATAGTCCTATAGTGGCCCCTGATAACCCAAATGTGCAGTGGATCCTCAAGGAAGGAGAAAAAAGGCAGGGCCCTGGAGACACATACCTCACTAAGCCCCGTGAGCCTGCGGCTGTAGGTGGGTCGTGTGAAGACGTAGACTGGGAGTGCATGGTTGGCATGGTGGGTGCGAGCCACACAAAGGGCCTCCTGAACACGGAAGCTCACAAAGTTGCGGCCATGGCGGGAGGAAGCAAGTGTCTCGTCCAGGTAGACAGACGGGAAGAGGGCCGTGCTCTCAGCCCACAGCCAGGCCAGCTGGTCATTGCGGGCCACCTCAACATCAGGGCAGCGGCCTGTGTAGCTCTCCCAGTTCTGCACATAATCATGATTGTAGCAGTCAGGAAAGAGGTAGAAGCCCCAGAGGTGCCGGGGCCGCACTGCCTTGACATAACGCAGTGTCTCCAGCATGAACTGCTGTGCTGCGAACTCAAACTCATATTGTGCCTGTTTGACTATGCGGTCTGGAGGCCAGTCAGGGTGACGACTGGCCACTAGCTGGCGTGATAACCGGCGATACACATCTTTGTCCTGCCAGTTGCGCACCCACACAGGTCGCCAGTCCTCCCAGTCGATGACCGCCAGCCCCGCAGACTCCTGTGTCCGAATGTAGTGCTCCACACGTTTCTGCAGCATCTTCCGGTGTGCCCAAAGGCTGACATTCTGTGGCACACCACCATGCACAGACCTTCCGGCAGAATCGAAGCGTGGATACAGGCCTAGACGGTCGCGGTAGAAGATGGTAATATTCTGGTTCACAAAACCCTCATTAGGTGAGGCCTGCACATCAAAGGCATTCAGGTCCAGTGGCACCTTGAGGCGTGGGCCACAGTCCTGTGTGGGCACGTCCCACGCTACCACAAAGGGCCGGCCAGTGAAGATGGGTGGTGCTGTGGGCTTGAGCTCCATGGCCCATGACACCGCCAGCACCAGGGCCAATGTAACGGTGGGGCCTGGGCCTGCCCGCATGCTGGGGGCTGCAGGAGGTGTCACCTGCCTGGCACCAGCTCAGGAACTGGAAGAAGGGTTGGGGAGAACAAGTCAGTCTAGGGAATACTGGAAGTGCCCACCTCAAGCCCATCTATGCTCCCAAAGCCCATGCTGTGTGGGGGCACTGTGCTCATGGCTGTAATAGGTTTGAGAGACCACAGGCCACTGCAGGGCAGACAAGGCACCCTGGGAACTCACTGCCAGAAGCACAGGGCTCTTTTCTGGAGCAGGTAGCCTGTGGCTCGGCACAAATCTCTATTAGGTCTGTGACCCTTCTAAGAACTAGATAATTTGGGCTCACCAGAGTCACATATATGCCTGCATACCATCCAGTACATGGTTTCAGAGAACCCTGAACAGCTGATGCCCACCCTGTACACCGTGAAGAACCCTTGATCCAGAGAAACGACAGCATTTGGGTAAAGCAGGGAACAGCTCGTCAAGAGGCTACGAAACTGGAAGGAACGCTGCCGGGAGGCTTCTATCCGTGTAACACTCGCCCGGCAGAAGAGTGAGGCTCTCCGGACTTTCTCTCGAGCGCTGACACTCTCCCGGCTTGGAGGAGGCCCCGTAGGGACAAAGGGGCAGCGGACCTCCCACGGCGGCGCCGGCCGCCCGGCCCTTCCCTCCACCGCCACCGGGAATGCGCGCGCTCGCCTCCCCCGCCCGGCCGCTCAGGGCTAGAGCGCGCTCCGCCGGGTCTTTGTGCGGGACCCCGCCCCCGCCCCACACGTGGGGCCTGCGCCCGGTCGGGTGGGGGTGGGGTTTCTGGGACGCCTCTCCGCGAGCACCCCCGGGGATTCAGACCCCAGCCCAAGGGGAGAGAGCCGCCAGGTTTGCACCGCCCGCCCTCACCTCGCGCGGGGCGCCACCGGGACCGGCGCCAGGGCCACCGCCATCCCGGGCCCAGCCCAGCCCGCTCCGGCCGTTCGCCCAGGCGCGGCCCGGCTCAGCGCCTCTGCTGGCTCCGCCCCCAGGCACGCTGGCCCTTTAAGACTCCAGTGCGGAGGTGGGCCCGGGATTGGACTTGCGGACGGGGCGGGAAGGTGTGGTCCACCTTTCTCGGTGCCGGTGCCTCGTTTCGGGCTCGAAGAGCCCCAGGTCCTCTGCAGAGGGACGTGGCCGCCCATTTAGGACCCTAATGCCCCTCTGAGCCGGGCTTTCTATGGGAGTCTCAGCCACGAGCGCCAGTCAGCCT
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Task1_train_7048
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Here is a variant affecting HYAL2 (hyaluronidase 2) on Chromosome 3. Please identify whether it is a benign mutation or associated with a disorder.
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Pathogenic; HYAL2 deficiency
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TCCCACTGGGGTGGCTCCTGCCCCAGCAGAACAGCTCCAGAGTGGGCAGCTCTGGGCCCCCAAGTCTTGGTGAATACATCTTACACGAGAAGTCCCCAGCAGAGGGTTTCATAGAGACAGAGCTGAGCTCAAACCCCATGGGAAATTCTGGAATCTCGCATACACTTTAGCCCAGGTACAAAATCCAAGCAGAGAAGCAATTGTTTTATGTTTAATTTACAAAAGAGACCCCAAAATAATAATAATAATAAACTATCTAGGGCAAGGGAGTAGGGTCAGGTCCTCCCCAGCCCAGCTGTACCCTCCTTCCCCTCTGGCAGGGAGAGAAGGGGCCTCCCAGGGACTTCCCCTCCCCCTTAGAACAGGGGGGTGCGAGCTGGTATGGATGCCCTCCTGGGCTTCCTGGGGGCTCTGCCCACTCCAGACTCCAGTTTGTCCACCCCCTGCAGGGTCCTACATGCCTAAGAGAGCCCTTGTGGTAGAGGCCAGCTTGCTAGGCAGCTAGGCAGGAGACCCCTACAAGGTCCAGGTAAAGGCCAGGGCTGCCAGAGCCAGCAGACTGGTGAGGTGGGACCCAGCCCAGGCCTCGCTGGCACCTCCAGCTGCCTGCCTATGGTCCCACTGGCATTGCTCACCACTCCAGCCCAAGTAGCACTGGCAGCGGAAGTGTGTCTGCAGGTGGTCAATGTCGGCCCAACTGAGCTCCCCCACAGGTCGCAGCTGGGGTTCACCAGGTGCATGGCCAGGCACTAGGCGGAAACTGTTGGTGCTGAGATGCAGGAAGGTACTGGCACTGGGGTTGCGGCGCACACAGCGCCCATGGCCATGGCACTGGGCCCGGCTGCAATATTGGGTGGCCCAGGACACATTGACCACGTAGGGGACCAGCAGCCGTGTCAGGTAATCTTTGAGGTACTGGCAGGTCTCCTGGAGGCAGAAGACAAGGACCACAGGTCAGGGTCAGCTGCCTCAGCCCACAGGCCCAGATGGAAACTGTGTCCACACTGTGATGACTATACCTTATTTTAACTGCACACATTCATACATTCAATCTGCACCTGAGCCACACAGTCCCTGCTCCTGCTGAGAAGTGGGTGGGGGTACAGACCGGAACCCAGTTGGGCAGATGGGGAAGGGCGGAACTCAACAGCTGTTCAGGACAGCATTTCCTCTTTCCTGAGAGCAGGGCCGGGGTGACCTCCTCCTGTTGCCACCAGGGATGCCTCGGGTGGGAGACAGACAAGGGGACCAGACTAGGATTGCCCACCTGAGGTTGGTAGCCAAAGGCCCTAACTCTCTGTCTGTCCCATAGACTGAGCTCTGGCAGGCTGGGTCTCGCTTACCGTGCTTGTGGTGTACCCCGCGTCACCCCAGAGGATGACACCAGCTGCGCCCAGGGCCGCACTCTCGCCAATGGTAGAGATGAGGTCCATCTATGCAGGAAAAGGGATGGTCACTGGGGAAGACTGAGACCACAGGGTGACAGGAACAGACAAGGAGGGCAGACCCCAGCCTGATTCAACCTGCTGAACTCCCAGCTCAACCCCCATTTCACGTCCAGGCAGAGGCTCATTTGTTTTGCTTCCTTTTTAAACATTTAAGTCCATTTCCACCCCACTTTTGGGGCTCAGTTTCCCAAGCCAAGGGCACACTTGAGCCTAGGTGCAGCTATCAGGATGGATTCCAAAGTTAGAAGGCCTGGGCCCCAGTCCCAGCTCTGCTCTGGATTTGCTGGGAAGCTTTGGGCAAACTTCTCAGCATCGCTGTGCCTCAATTGTTCTCATCTGAAAAATGGGGATAATGATGTCACCCTTTCAGGTTATAGACAGAATGATTTGAGGGGATGTGGAGCAGCCAATAAACTACAGGTATAGTCCTATAGTGGCCCCTGATAACCCAAATGTGCAGTGGATCCTCAAGGAAGGAGAAAAAAGGCAGGGCCCTGGAGACACATACCTCACTAAGCCCCGTGAGCCTGCGGCTGTAGGTGGGTCGTGTGAAGACGTAGACTGGGAGTGCATGGTTGGCATGGTGGGTGCGAGCCACACGAAGGGCCTCCTGAACACGGAAGCTCACAAAGTTGCGGCCATGGCGGGAGGAAGCAAGTGTCTCGTCCAGGTAGACAGACGGGAAGAGGGCCGTGCTCTCAGCCCACAGCCAGGCCAGCTGGTCATTGCGGGCCACCTCAACATCAGGGCAGCGGCCTGTGTAGCTCTCCCAGTTCTGCACATAATCATGATTGTAGCAGTCAGGAAAGAGGTAGAAGCCCCAGAGGTGCCGGGGCCGCACTGCCTTGACATAACGCAGTGTCTCCAGCATGAACTGCTGTGCTGCGAACTCAAACTCATATTGTGCCTGTTTGACTATGCGGTCTGGAGGCCAGTCAGGGTGACGACTGGCCACTAGCTGGCGTGATAACCGGCGATACACATCTTTGTCCTGCCAGTTGCGCACCCACACAGGTCGCCAGTCCTCCCAGTCGATGACCGCCAGCCCCGCAGACTCCTGTGTCCGAATGTAGTGCTCCACACGTTTCTGCAGCATCTTCCGGTGTGCCCAAAGGCTGACATTCTGTGGCACACCACCATGCACAGACCTTCCGGCAGAATCGAAGCGTGGATACAGGCCTAGACGGTCGCGGTAGAAGATGGTAATATTCTGGTTCACAAAACCCTCATTAGGTGAGGCCTGCACATCAAAGGCATTCAGGTCCAGTGGCACCTTGAGGCGTGGGCCACAGTCCTGTGTGGGCACGTCCCACGCTACCACAAAGGGCCGGCCAGTGAAGATGGGTGGTGCTGTGGGCTTGAGCTCCATGGCCCATGACACCGCCAGCACCAGGGCCAATGTAACGGTGGGGCCTGGGCCTGCCCGCATGCTGGGGGCTGCAGGAGGTGTCACCTGCCTGGCACCAGCTCAGGAACTGGAAGAAGGGTTGGGGAGAACAAGTCAGTCTAGGGAATACTGGAAGTGCCCACCTCAAGCCCATCTATGCTCCCAAAGCCCATGCTGTGTGGGGGCACTGTGCTCATGGCTGTAATAGGTTTGAGAGACCACAGGCCACTGCAGGGCAGACAAGGCACCCTGGGAACTCACTGCCAGAAGCACAGGGCTCTTTTCTGGAGCAGGTAGCCTGTGGCTCGGCACAAATCTCTATTAGGTCTGTGACCCTTCTAAGAACTAGATAATTTGGGCTCACCAGAGTCACATATATGCCTGCATACCATCCAGTACATGGTTTCAGAGAACCCTGAACAGCTGATGCCCACCCTGTACACCGTGAAGAACCCTTGATCCAGAGAAACGACAGCATTTGGGTAAAGCAGGGAACAGCTCGTCAAGAGGCTACGAAACTGGAAGGAACGCTGCCGGGAGGCTTCTATCCGTGTAACACTCGCCCGGCAGAAGAGTGAGGCTCTCCGGACTTTCTCTCGAGCGCTGACACTCTCCCGGCTTGGAGGAGGCCCCGTAGGGACAAAGGGGCAGCGGACCTCCCACGGCGGCGCCGGCCGCCCGGCCCTTCCCTCCACCGCCACCGGGAATGCGCGCGCTCGCCTCCCCCGCCCGGCCGCTCAGGGCTAGAGCGCGCTCCGCCGGGTCTTTGTGCGGGACCCCGCCCCCGCCCCACACGTGGGGCCTGCGCCCGGTCGGGTGGGGGTGGGGTTTCTGGGACGCCTCTCCGCGAGCACCCCCGGGGATTCAGACCCCAGCCCAAGGGGAGAGAGCCGCCAGGTTTGCACCGCCCGCCCTCACCTCGCGCGGGGCGCCACCGGGACCGGCGCCAGGGCCACCGCCATCCCGGGCCCAGCCCAGCCCGCTCCGGCCGTTCGCCCAGGCGCGGCCCGGCTCAGCGCCTCTGCTGGCTCCGCCCCCAGGCACGCTGGCCCTTTAAGACTCCAGTGCGGAGGTGGGCCCGGGATTGGACTTGCGGACGGGGCGGGAAGGTGTGGTCCACCTTTCTCGGTGCCGGTGCCTCGTTTCGGGCTCGAAGAGCCCCAGGTCCTCTGCAGAGGGACGTGGCCGCCCATTTAGGACCCTAATGCCCCTCTGAGCCGGGCTTTCTATGGGAGTCTCAGCCACGAGCGCCAGTCAGCCT
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TCCCACTGGGGTGGCTCCTGCCCCAGCAGAACAGCTCCAGAGTGGGCAGCTCTGGGCCCCCAAGTCTTGGTGAATACATCTTACACGAGAAGTCCCCAGCAGAGGGTTTCATAGAGACAGAGCTGAGCTCAAACCCCATGGGAAATTCTGGAATCTCGCATACACTTTAGCCCAGGTACAAAATCCAAGCAGAGAAGCAATTGTTTTATGTTTAATTTACAAAAGAGACCCCAAAATAATAATAATAATAAACTATCTAGGGCAAGGGAGTAGGGTCAGGTCCTCCCCAGCCCAGCTGTACCCTCCTTCCCCTCTGGCAGGGAGAGAAGGGGCCTCCCAGGGACTTCCCCTCCCCCTTAGAACAGGGGGGTGCGAGCTGGTATGGATGCCCTCCTGGGCTTCCTGGGGGCTCTGCCCACTCCAGACTCCAGTTTGTCCACCCCCTGCAGGGTCCTACATGCCTAAGAGAGCCCTTGTGGTAGAGGCCAGCTTGCTAGGCAGCTAGGCAGGAGACCCCTACAAGGTCCAGGTAAAGGCCAGGGCTGCCAGAGCCAGCAGACTGGTGAGGTGGGACCCAGCCCAGGCCTCGCTGGCACCTCCAGCTGCCTGCCTATGGTCCCACTGGCATTGCTCACCACTCCAGCCCAAGTAGCACTGGCAGCGGAAGTGTGTCTGCAGGTGGTCAATGTCGGCCCAACTGAGCTCCCCCACAGGTCGCAGCTGGGGTTCACCAGGTGCATGGCCAGGCACTAGGCGGAAACTGTTGGTGCTGAGATGCAGGAAGGTACTGGCACTGGGGTTGCGGCGCACACAGCGCCCATGGCCATGGCACTGGGCCCGGCTGCAATATTGGGTGGCCCAGGACACATTGACCACGTAGGGGACCAGCAGCCGTGTCAGGTAATCTTTGAGGTACTGGCAGGTCTCCTGGAGGCAGAAGACAAGGACCACAGGTCAGGGTCAGCTGCCTCAGCCCACAGGCCCAGATGGAAACTGTGTCCACACTGTGATGACTATACCTTATTTTAACTGCACACATTCATACATTCAATCTGCACCTGAGCCACACAGTCCCTGCTCCTGCTGAGAAGTGGGTGGGGGTACAGACCGGAACCCAGTTGGGCAGATGGGGAAGGGCGGAACTCAACAGCTGTTCAGGACAGCATTTCCTCTTTCCTGAGAGCAGGGCCGGGGTGACCTCCTCCTGTTGCCACCAGGGATGCCTCGGGTGGGAGACAGACAAGGGGACCAGACTAGGATTGCCCACCTGAGGTTGGTAGCCAAAGGCCCTAACTCTCTGTCTGTCCCATAGACTGAGCTCTGGCAGGCTGGGTCTCGCTTACCGTGCTTGTGGTGTACCCCGCGTCACCCCAGAGGATGACACCAGCTGCGCCCAGGGCCGCACTCTCGCCAATGGTAGAGATGAGGTCCATCTATGCAGGAAAAGGGATGGTCACTGGGGAAGACTGAGACCACAGGGTGACAGGAACAGACAAGGAGGGCAGACCCCAGCCTGATTCAACCTGCTGAACTCCCAGCTCAACCCCCATTTCACGTCCAGGCAGAGGCTCATTTGTTTTGCTTCCTTTTTAAACATTTAAGTCCATTTCCACCCCACTTTTGGGGCTCAGTTTCCCAAGCCAAGGGCACACTTGAGCCTAGGTGCAGCTATCAGGATGGATTCCAAAGTTAGAAGGCCTGGGCCCCAGTCCCAGCTCTGCTCTGGATTTGCTGGGAAGCTTTGGGCAAACTTCTCAGCATCGCTGTGCCTCAATTGTTCTCATCTGAAAAATGGGGATAATGATGTCACCCTTTCAGGTTATAGACAGAATGATTTGAGGGGATGTGGAGCAGCCAATAAACTACAGGTATAGTCCTATAGTGGCCCCTGATAACCCAAATGTGCAGTGGATCCTCAAGGAAGGAGAAAAAAGGCAGGGCCCTGGAGACACATACCTCACTAAGCCCCGTGAGCCTGCGGCTGTAGGTGGGTCGTGTGAAGACGTAGACTGGGAGTGCATGGTTGGCATGGTGGGTGCGAGCCACACAAAGGGCCTCCTGAACACGGAAGCTCACAAAGTTGCGGCCATGGCGGGAGGAAGCAAGTGTCTCGTCCAGGTAGACAGACGGGAAGAGGGCCGTGCTCTCAGCCCACAGCCAGGCCAGCTGGTCATTGCGGGCCACCTCAACATCAGGGCAGCGGCCTGTGTAGCTCTCCCAGTTCTGCACATAATCATGATTGTAGCAGTCAGGAAAGAGGTAGAAGCCCCAGAGGTGCCGGGGCCGCACTGCCTTGACATAACGCAGTGTCTCCAGCATGAACTGCTGTGCTGCGAACTCAAACTCATATTGTGCCTGTTTGACTATGCGGTCTGGAGGCCAGTCAGGGTGACGACTGGCCACTAGCTGGCGTGATAACCGGCGATACACATCTTTGTCCTGCCAGTTGCGCACCCACACAGGTCGCCAGTCCTCCCAGTCGATGACCGCCAGCCCCGCAGACTCCTGTGTCCGAATGTAGTGCTCCACACGTTTCTGCAGCATCTTCCGGTGTGCCCAAAGGCTGACATTCTGTGGCACACCACCATGCACAGACCTTCCGGCAGAATCGAAGCGTGGATACAGGCCTAGACGGTCGCGGTAGAAGATGGTAATATTCTGGTTCACAAAACCCTCATTAGGTGAGGCCTGCACATCAAAGGCATTCAGGTCCAGTGGCACCTTGAGGCGTGGGCCACAGTCCTGTGTGGGCACGTCCCACGCTACCACAAAGGGCCGGCCAGTGAAGATGGGTGGTGCTGTGGGCTTGAGCTCCATGGCCCATGACACCGCCAGCACCAGGGCCAATGTAACGGTGGGGCCTGGGCCTGCCCGCATGCTGGGGGCTGCAGGAGGTGTCACCTGCCTGGCACCAGCTCAGGAACTGGAAGAAGGGTTGGGGAGAACAAGTCAGTCTAGGGAATACTGGAAGTGCCCACCTCAAGCCCATCTATGCTCCCAAAGCCCATGCTGTGTGGGGGCACTGTGCTCATGGCTGTAATAGGTTTGAGAGACCACAGGCCACTGCAGGGCAGACAAGGCACCCTGGGAACTCACTGCCAGAAGCACAGGGCTCTTTTCTGGAGCAGGTAGCCTGTGGCTCGGCACAAATCTCTATTAGGTCTGTGACCCTTCTAAGAACTAGATAATTTGGGCTCACCAGAGTCACATATATGCCTGCATACCATCCAGTACATGGTTTCAGAGAACCCTGAACAGCTGATGCCCACCCTGTACACCGTGAAGAACCCTTGATCCAGAGAAACGACAGCATTTGGGTAAAGCAGGGAACAGCTCGTCAAGAGGCTACGAAACTGGAAGGAACGCTGCCGGGAGGCTTCTATCCGTGTAACACTCGCCCGGCAGAAGAGTGAGGCTCTCCGGACTTTCTCTCGAGCGCTGACACTCTCCCGGCTTGGAGGAGGCCCCGTAGGGACAAAGGGGCAGCGGACCTCCCACGGCGGCGCCGGCCGCCCGGCCCTTCCCTCCACCGCCACCGGGAATGCGCGCGCTCGCCTCCCCCGCCCGGCCGCTCAGGGCTAGAGCGCGCTCCGCCGGGTCTTTGTGCGGGACCCCGCCCCCGCCCCACACGTGGGGCCTGCGCCCGGTCGGGTGGGGGTGGGGTTTCTGGGACGCCTCTCCGCGAGCACCCCCGGGGATTCAGACCCCAGCCCAAGGGGAGAGAGCCGCCAGGTTTGCACCGCCCGCCCTCACCTCGCGCGGGGCGCCACCGGGACCGGCGCCAGGGCCACCGCCATCCCGGGCCCAGCCCAGCCCGCTCCGGCCGTTCGCCCAGGCGCGGCCCGGCTCAGCGCCTCTGCTGGCTCCGCCCCCAGGCACGCTGGCCCTTTAAGACTCCAGTGCGGAGGTGGGCCCGGGATTGGACTTGCGGACGGGGCGGGAAGGTGTGGTCCACCTTTCTCGGTGCCGGTGCCTCGTTTCGGGCTCGAAGAGCCCCAGGTCCTCTGCAGAGGGACGTGGCCGCCCATTTAGGACCCTAATGCCCCTCTGAGCCGGGCTTTCTATGGGAGTCTCAGCCACGAGCGCCAGTCAGCCT
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Task1_train_7049
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A variant has been detected on Chromosome 3 in HYAL2 (hyaluronidase 2). What is its effect — pathogenic or benign? If pathogenic, name the disease.
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Pathogenic; Muggenthaler-Chowdhury-Chioza syndrome
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TCCCACTGGGGTGGCTCCTGCCCCAGCAGAACAGCTCCAGAGTGGGCAGCTCTGGGCCCCCAAGTCTTGGTGAATACATCTTACACGAGAAGTCCCCAGCAGAGGGTTTCATAGAGACAGAGCTGAGCTCAAACCCCATGGGAAATTCTGGAATCTCGCATACACTTTAGCCCAGGTACAAAATCCAAGCAGAGAAGCAATTGTTTTATGTTTAATTTACAAAAGAGACCCCAAAATAATAATAATAATAAACTATCTAGGGCAAGGGAGTAGGGTCAGGTCCTCCCCAGCCCAGCTGTACCCTCCTTCCCCTCTGGCAGGGAGAGAAGGGGCCTCCCAGGGACTTCCCCTCCCCCTTAGAACAGGGGGGTGCGAGCTGGTATGGATGCCCTCCTGGGCTTCCTGGGGGCTCTGCCCACTCCAGACTCCAGTTTGTCCACCCCCTGCAGGGTCCTACATGCCTAAGAGAGCCCTTGTGGTAGAGGCCAGCTTGCTAGGCAGCTAGGCAGGAGACCCCTACAAGGTCCAGGTAAAGGCCAGGGCTGCCAGAGCCAGCAGACTGGTGAGGTGGGACCCAGCCCAGGCCTCGCTGGCACCTCCAGCTGCCTGCCTATGGTCCCACTGGCATTGCTCACCACTCCAGCCCAAGTAGCACTGGCAGCGGAAGTGTGTCTGCAGGTGGTCAATGTCGGCCCAACTGAGCTCCCCCACAGGTCGCAGCTGGGGTTCACCAGGTGCATGGCCAGGCACTAGGCGGAAACTGTTGGTGCTGAGATGCAGGAAGGTACTGGCACTGGGGTTGCGGCGCACACAGCGCCCATGGCCATGGCACTGGGCCCGGCTGCAATATTGGGTGGCCCAGGACACATTGACCACGTAGGGGACCAGCAGCCGTGTCAGGTAATCTTTGAGGTACTGGCAGGTCTCCTGGAGGCAGAAGACAAGGACCACAGGTCAGGGTCAGCTGCCTCAGCCCACAGGCCCAGATGGAAACTGTGTCCACACTGTGATGACTATACCTTATTTTAACTGCACACATTCATACATTCAATCTGCACCTGAGCCACACAGTCCCTGCTCCTGCTGAGAAGTGGGTGGGGGTACAGACCGGAACCCAGTTGGGCAGATGGGGAAGGGCGGAACTCAACAGCTGTTCAGGACAGCATTTCCTCTTTCCTGAGAGCAGGGCCGGGGTGACCTCCTCCTGTTGCCACCAGGGATGCCTCGGGTGGGAGACAGACAAGGGGACCAGACTAGGATTGCCCACCTGAGGTTGGTAGCCAAAGGCCCTAACTCTCTGTCTGTCCCATAGACTGAGCTCTGGCAGGCTGGGTCTCGCTTACCGTGCTTGTGGTGTACCCCGCGTCACCCCAGAGGATGACACCAGCTGCGCCCAGGGCCGCACTCTCGCCAATGGTAGAGATGAGGTCCATCTATGCAGGAAAAGGGATGGTCACTGGGGAAGACTGAGACCACAGGGTGACAGGAACAGACAAGGAGGGCAGACCCCAGCCTGATTCAACCTGCTGAACTCCCAGCTCAACCCCCATTTCACGTCCAGGCAGAGGCTCATTTGTTTTGCTTCCTTTTTAAACATTTAAGTCCATTTCCACCCCACTTTTGGGGCTCAGTTTCCCAAGCCAAGGGCACACTTGAGCCTAGGTGCAGCTATCAGGATGGATTCCAAAGTTAGAAGGCCTGGGCCCCAGTCCCAGCTCTGCTCTGGATTTGCTGGGAAGCTTTGGGCAAACTTCTCAGCATCGCTGTGCCTCAATTGTTCTCATCTGAAAAATGGGGATAATGATGTCACCCTTTCAGGTTATAGACAGAATGATTTGAGGGGATGTGGAGCAGCCAATAAACTACAGGTATAGTCCTATAGTGGCCCCTGATAACCCAAATGTGCAGTGGATCCTCAAGGAAGGAGAAAAAAGGCAGGGCCCTGGAGACACATACCTCACTAAGCCCCGTGAGCCTGCGGCTGTAGGTGGGTCGTGTGAAGACGTAGACTGGGAGTGCATGGTTGGCATGGTGGGTGCGAGCCACACGAAGGGCCTCCTGAACACGGAAGCTCACAAAGTTGCGGCCATGGCGGGAGGAAGCAAGTGTCTCGTCCAGGTAGACAGACGGGAAGAGGGCCGTGCTCTCAGCCCACAGCCAGGCCAGCTGGTCATTGCGGGCCACCTCAACATCAGGGCAGCGGCCTGTGTAGCTCTCCCAGTTCTGCACATAATCATGATTGTAGCAGTCAGGAAAGAGGTAGAAGCCCCAGAGGTGCCGGGGCCGCACTGCCTTGACATAACGCAGTGTCTCCAGCATGAACTGCTGTGCTGCGAACTCAAACTCATATTGTGCCTGTTTGACTATGCGGTCTGGAGGCCAGTCAGGGTGACGACTGGCCACTAGCTGGCGTGATAACCGGCGATACACATCTTTGTCCTGCCAGTTGCGCACCCACACAGGTCGCCAGTCCTCCCAGTCGATGACCGCCAGCCCCGCAGACTCCTGTGTCCGAATGTAGTGCTCCACACGTTTCTGCAGCATCTTCCGGTGTGCCCAAAGGCTGACATTCTGTGGCACACCACCATGCACAGACCTTCCGGCAGAATCGAAGCGTGGATACAGGCCTAGACGGTCGCGGTAGAAGATGGTAATATTCTGGTTCACAAAACCCTCATTAGGTGAGGCCTGCACATCAAAGGCATTCAGGTCCAGTGGCACCTTGAGGCGTGGGCCACAGTCCTGTGTGGGCACGTCCCACGCTACCACAAAGGGCCGGCCAGTGAAGATGGGTGGTGCTGTGGGCTTGAGCTCCATGGCCCATGACACCGCCAGCACCAGGGCCAATGTAACGGTGGGGCCTGGGCCTGCCCGCATGCTGGGGGCTGCAGGAGGTGTCACCTGCCTGGCACCAGCTCAGGAACTGGAAGAAGGGTTGGGGAGAACAAGTCAGTCTAGGGAATACTGGAAGTGCCCACCTCAAGCCCATCTATGCTCCCAAAGCCCATGCTGTGTGGGGGCACTGTGCTCATGGCTGTAATAGGTTTGAGAGACCACAGGCCACTGCAGGGCAGACAAGGCACCCTGGGAACTCACTGCCAGAAGCACAGGGCTCTTTTCTGGAGCAGGTAGCCTGTGGCTCGGCACAAATCTCTATTAGGTCTGTGACCCTTCTAAGAACTAGATAATTTGGGCTCACCAGAGTCACATATATGCCTGCATACCATCCAGTACATGGTTTCAGAGAACCCTGAACAGCTGATGCCCACCCTGTACACCGTGAAGAACCCTTGATCCAGAGAAACGACAGCATTTGGGTAAAGCAGGGAACAGCTCGTCAAGAGGCTACGAAACTGGAAGGAACGCTGCCGGGAGGCTTCTATCCGTGTAACACTCGCCCGGCAGAAGAGTGAGGCTCTCCGGACTTTCTCTCGAGCGCTGACACTCTCCCGGCTTGGAGGAGGCCCCGTAGGGACAAAGGGGCAGCGGACCTCCCACGGCGGCGCCGGCCGCCCGGCCCTTCCCTCCACCGCCACCGGGAATGCGCGCGCTCGCCTCCCCCGCCCGGCCGCTCAGGGCTAGAGCGCGCTCCGCCGGGTCTTTGTGCGGGACCCCGCCCCCGCCCCACACGTGGGGCCTGCGCCCGGTCGGGTGGGGGTGGGGTTTCTGGGACGCCTCTCCGCGAGCACCCCCGGGGATTCAGACCCCAGCCCAAGGGGAGAGAGCCGCCAGGTTTGCACCGCCCGCCCTCACCTCGCGCGGGGCGCCACCGGGACCGGCGCCAGGGCCACCGCCATCCCGGGCCCAGCCCAGCCCGCTCCGGCCGTTCGCCCAGGCGCGGCCCGGCTCAGCGCCTCTGCTGGCTCCGCCCCCAGGCACGCTGGCCCTTTAAGACTCCAGTGCGGAGGTGGGCCCGGGATTGGACTTGCGGACGGGGCGGGAAGGTGTGGTCCACCTTTCTCGGTGCCGGTGCCTCGTTTCGGGCTCGAAGAGCCCCAGGTCCTCTGCAGAGGGACGTGGCCGCCCATTTAGGACCCTAATGCCCCTCTGAGCCGGGCTTTCTATGGGAGTCTCAGCCACGAGCGCCAGTCAGCCT
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TCCCACTGGGGTGGCTCCTGCCCCAGCAGAACAGCTCCAGAGTGGGCAGCTCTGGGCCCCCAAGTCTTGGTGAATACATCTTACACGAGAAGTCCCCAGCAGAGGGTTTCATAGAGACAGAGCTGAGCTCAAACCCCATGGGAAATTCTGGAATCTCGCATACACTTTAGCCCAGGTACAAAATCCAAGCAGAGAAGCAATTGTTTTATGTTTAATTTACAAAAGAGACCCCAAAATAATAATAATAATAAACTATCTAGGGCAAGGGAGTAGGGTCAGGTCCTCCCCAGCCCAGCTGTACCCTCCTTCCCCTCTGGCAGGGAGAGAAGGGGCCTCCCAGGGACTTCCCCTCCCCCTTAGAACAGGGGGGTGCGAGCTGGTATGGATGCCCTCCTGGGCTTCCTGGGGGCTCTGCCCACTCCAGACTCCAGTTTGTCCACCCCCTGCAGGGTCCTACATGCCTAAGAGAGCCCTTGTGGTAGAGGCCAGCTTGCTAGGCAGCTAGGCAGGAGACCCCTACAAGGTCCAGGTAAAGGCCAGGGCTGCCAGAGCCAGCAGACTGGTGAGGTGGGACCCAGCCCAGGCCTCGCTGGCACCTCCAGCTGCCTGCCTATGGTCCCACTGGCATTGCTCACCACTCCAGCCCAAGTAGCACTGGCAGCGGAAGTGTGTCTGCAGGTGGTCAATGTCGGCCCAACTGAGCTCCCCCACAGGTCGCAGCTGGGGTTCACCAGGTGCATGGCCAGGCACTAGGCGGAAACTGTTGGTGCTGAGATGCAGGAAGGTACTGGCACTGGGGTTGCGGCGCACACAGCGCCCATGGCCATGGCACTGGGCCCGGCTGCAATATTGGGTGGCCCAGGACACATTGACCACGTAGGGGACCAGCAGCCGTGTCAGGTAATCTTTGAGGTACTGGCAGGTCTCCTGGAGGCAGAAGACAAGGACCACAGGTCAGGGTCAGCTGCCTCAGCCCACAGGCCCAGATGGAAACTGTGTCCACACTGTGATGACTATACCTTATTTTAACTGCACACATTCATACATTCAATCTGCACCTGAGCCACACAGTCCCTGCTCCTGCTGAGAAGTGGGTGGGGGTACAGACCGGAACCCAGTTGGGCAGATGGGGAAGGGCGGAACTCAACAGCTGTTCAGGACAGCATTTCCTCTTTCCTGAGAGCAGGGCCGGGGTGACCTCCTCCTGTTGCCACCAGGGATGCCTCGGGTGGGAGACAGACAAGGGGACCAGACTAGGATTGCCCACCTGAGGTTGGTAGCCAAAGGCCCTAACTCTCTGTCTGTCCCATAGACTGAGCTCTGGCAGGCTGGGTCTCGCTTACCGTGCTTGTGGTGTACCCCGCGTCACCCCAGAGGATGACACCAGCTGCGCCCAGGGCCGCACTCTCGCCAATGGTAGAGATGAGGTCCATCTATGCAGGAAAAGGGATGGTCACTGGGGAAGACTGAGACCACAGGGTGACAGGAACAGACAAGGAGGGCAGACCCCAGCCTGATTCAACCTGCTGAACTCCCAGCTCAACCCCCATTTCACGTCCAGGCAGAGGCTCATTTGTTTTGCTTCCTTTTTAAACATTTAAGTCCATTTCCACCCCACTTTTGGGGCTCAGTTTCCCAAGCCAAGGGCACACTTGAGCCTAGGTGCAGCTATCAGGATGGATTCCAAAGTTAGAAGGCCTGGGCCCCAGTCCCAGCTCTGCTCTGGATTTGCTGGGAAGCTTTGGGCAAACTTCTCAGCATCGCTGTGCCTCAATTGTTCTCATCTGAAAAATGGGGATAATGATGTCACCCTTTCAGGTTATAGACAGAATGATTTGAGGGGATGTGGAGCAGCCAATAAACTACAGGTATAGTCCTATAGTGGCCCCTGATAACCCAAATGTGCAGTGGATCCTCAAGGAAGGAGAAAAAAGGCAGGGCCCTGGAGACACATACCTCACTAAGCCCCGTGAGCCTGCGGCTGTAGGTGGGTCGTGTGAAGACGTAGACTGGGAGTGCATGGTTGGCATGGTGGGTGCGAGCCACACAAAGGGCCTCCTGAACACGGAAGCTCACAAAGTTGCGGCCATGGCGGGAGGAAGCAAGTGTCTCGTCCAGGTAGACAGACGGGAAGAGGGCCGTGCTCTCAGCCCACAGCCAGGCCAGCTGGTCATTGCGGGCCACCTCAACATCAGGGCAGCGGCCTGTGTAGCTCTCCCAGTTCTGCACATAATCATGATTGTAGCAGTCAGGAAAGAGGTAGAAGCCCCAGAGGTGCCGGGGCCGCACTGCCTTGACATAACGCAGTGTCTCCAGCATGAACTGCTGTGCTGCGAACTCAAACTCATATTGTGCCTGTTTGACTATGCGGTCTGGAGGCCAGTCAGGGTGACGACTGGCCACTAGCTGGCGTGATAACCGGCGATACACATCTTTGTCCTGCCAGTTGCGCACCCACACAGGTCGCCAGTCCTCCCAGTCGATGACCGCCAGCCCCGCAGACTCCTGTGTCCGAATGTAGTGCTCCACACGTTTCTGCAGCATCTTCCGGTGTGCCCAAAGGCTGACATTCTGTGGCACACCACCATGCACAGACCTTCCGGCAGAATCGAAGCGTGGATACAGGCCTAGACGGTCGCGGTAGAAGATGGTAATATTCTGGTTCACAAAACCCTCATTAGGTGAGGCCTGCACATCAAAGGCATTCAGGTCCAGTGGCACCTTGAGGCGTGGGCCACAGTCCTGTGTGGGCACGTCCCACGCTACCACAAAGGGCCGGCCAGTGAAGATGGGTGGTGCTGTGGGCTTGAGCTCCATGGCCCATGACACCGCCAGCACCAGGGCCAATGTAACGGTGGGGCCTGGGCCTGCCCGCATGCTGGGGGCTGCAGGAGGTGTCACCTGCCTGGCACCAGCTCAGGAACTGGAAGAAGGGTTGGGGAGAACAAGTCAGTCTAGGGAATACTGGAAGTGCCCACCTCAAGCCCATCTATGCTCCCAAAGCCCATGCTGTGTGGGGGCACTGTGCTCATGGCTGTAATAGGTTTGAGAGACCACAGGCCACTGCAGGGCAGACAAGGCACCCTGGGAACTCACTGCCAGAAGCACAGGGCTCTTTTCTGGAGCAGGTAGCCTGTGGCTCGGCACAAATCTCTATTAGGTCTGTGACCCTTCTAAGAACTAGATAATTTGGGCTCACCAGAGTCACATATATGCCTGCATACCATCCAGTACATGGTTTCAGAGAACCCTGAACAGCTGATGCCCACCCTGTACACCGTGAAGAACCCTTGATCCAGAGAAACGACAGCATTTGGGTAAAGCAGGGAACAGCTCGTCAAGAGGCTACGAAACTGGAAGGAACGCTGCCGGGAGGCTTCTATCCGTGTAACACTCGCCCGGCAGAAGAGTGAGGCTCTCCGGACTTTCTCTCGAGCGCTGACACTCTCCCGGCTTGGAGGAGGCCCCGTAGGGACAAAGGGGCAGCGGACCTCCCACGGCGGCGCCGGCCGCCCGGCCCTTCCCTCCACCGCCACCGGGAATGCGCGCGCTCGCCTCCCCCGCCCGGCCGCTCAGGGCTAGAGCGCGCTCCGCCGGGTCTTTGTGCGGGACCCCGCCCCCGCCCCACACGTGGGGCCTGCGCCCGGTCGGGTGGGGGTGGGGTTTCTGGGACGCCTCTCCGCGAGCACCCCCGGGGATTCAGACCCCAGCCCAAGGGGAGAGAGCCGCCAGGTTTGCACCGCCCGCCCTCACCTCGCGCGGGGCGCCACCGGGACCGGCGCCAGGGCCACCGCCATCCCGGGCCCAGCCCAGCCCGCTCCGGCCGTTCGCCCAGGCGCGGCCCGGCTCAGCGCCTCTGCTGGCTCCGCCCCCAGGCACGCTGGCCCTTTAAGACTCCAGTGCGGAGGTGGGCCCGGGATTGGACTTGCGGACGGGGCGGGAAGGTGTGGTCCACCTTTCTCGGTGCCGGTGCCTCGTTTCGGGCTCGAAGAGCCCCAGGTCCTCTGCAGAGGGACGTGGCCGCCCATTTAGGACCCTAATGCCCCTCTGAGCCGGGCTTTCTATGGGAGTCTCAGCCACGAGCGCCAGTCAGCCT
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Task1_train_7050
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This mutation is located in gene HYAL2 (hyaluronidase 2) on Chromosome 3. Is it associated with a disease or is it a benign polymorphism?
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Pathogenic; HYAL2 deficiency
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TGCCCTCCTGGGCTTCCTGGGGGCTCTGCCCACTCCAGACTCCAGTTTGTCCACCCCCTGCAGGGTCCTACATGCCTAAGAGAGCCCTTGTGGTAGAGGCCAGCTTGCTAGGCAGCTAGGCAGGAGACCCCTACAAGGTCCAGGTAAAGGCCAGGGCTGCCAGAGCCAGCAGACTGGTGAGGTGGGACCCAGCCCAGGCCTCGCTGGCACCTCCAGCTGCCTGCCTATGGTCCCACTGGCATTGCTCACCACTCCAGCCCAAGTAGCACTGGCAGCGGAAGTGTGTCTGCAGGTGGTCAATGTCGGCCCAACTGAGCTCCCCCACAGGTCGCAGCTGGGGTTCACCAGGTGCATGGCCAGGCACTAGGCGGAAACTGTTGGTGCTGAGATGCAGGAAGGTACTGGCACTGGGGTTGCGGCGCACACAGCGCCCATGGCCATGGCACTGGGCCCGGCTGCAATATTGGGTGGCCCAGGACACATTGACCACGTAGGGGACCAGCAGCCGTGTCAGGTAATCTTTGAGGTACTGGCAGGTCTCCTGGAGGCAGAAGACAAGGACCACAGGTCAGGGTCAGCTGCCTCAGCCCACAGGCCCAGATGGAAACTGTGTCCACACTGTGATGACTATACCTTATTTTAACTGCACACATTCATACATTCAATCTGCACCTGAGCCACACAGTCCCTGCTCCTGCTGAGAAGTGGGTGGGGGTACAGACCGGAACCCAGTTGGGCAGATGGGGAAGGGCGGAACTCAACAGCTGTTCAGGACAGCATTTCCTCTTTCCTGAGAGCAGGGCCGGGGTGACCTCCTCCTGTTGCCACCAGGGATGCCTCGGGTGGGAGACAGACAAGGGGACCAGACTAGGATTGCCCACCTGAGGTTGGTAGCCAAAGGCCCTAACTCTCTGTCTGTCCCATAGACTGAGCTCTGGCAGGCTGGGTCTCGCTTACCGTGCTTGTGGTGTACCCCGCGTCACCCCAGAGGATGACACCAGCTGCGCCCAGGGCCGCACTCTCGCCAATGGTAGAGATGAGGTCCATCTATGCAGGAAAAGGGATGGTCACTGGGGAAGACTGAGACCACAGGGTGACAGGAACAGACAAGGAGGGCAGACCCCAGCCTGATTCAACCTGCTGAACTCCCAGCTCAACCCCCATTTCACGTCCAGGCAGAGGCTCATTTGTTTTGCTTCCTTTTTAAACATTTAAGTCCATTTCCACCCCACTTTTGGGGCTCAGTTTCCCAAGCCAAGGGCACACTTGAGCCTAGGTGCAGCTATCAGGATGGATTCCAAAGTTAGAAGGCCTGGGCCCCAGTCCCAGCTCTGCTCTGGATTTGCTGGGAAGCTTTGGGCAAACTTCTCAGCATCGCTGTGCCTCAATTGTTCTCATCTGAAAAATGGGGATAATGATGTCACCCTTTCAGGTTATAGACAGAATGATTTGAGGGGATGTGGAGCAGCCAATAAACTACAGGTATAGTCCTATAGTGGCCCCTGATAACCCAAATGTGCAGTGGATCCTCAAGGAAGGAGAAAAAAGGCAGGGCCCTGGAGACACATACCTCACTAAGCCCCGTGAGCCTGCGGCTGTAGGTGGGTCGTGTGAAGACGTAGACTGGGAGTGCATGGTTGGCATGGTGGGTGCGAGCCACACGAAGGGCCTCCTGAACACGGAAGCTCACAAAGTTGCGGCCATGGCGGGAGGAAGCAAGTGTCTCGTCCAGGTAGACAGACGGGAAGAGGGCCGTGCTCTCAGCCCACAGCCAGGCCAGCTGGTCATTGCGGGCCACCTCAACATCAGGGCAGCGGCCTGTGTAGCTCTCCCAGTTCTGCACATAATCATGATTGTAGCAGTCAGGAAAGAGGTAGAAGCCCCAGAGGTGCCGGGGCCGCACTGCCTTGACATAACGCAGTGTCTCCAGCATGAACTGCTGTGCTGCGAACTCAAACTCATATTGTGCCTGTTTGACTATGCGGTCTGGAGGCCAGTCAGGGTGACGACTGGCCACTAGCTGGCGTGATAACCGGCGATACACATCTTTGTCCTGCCAGTTGCGCACCCACACAGGTCGCCAGTCCTCCCAGTCGATGACCGCCAGCCCCGCAGACTCCTGTGTCCGAATGTAGTGCTCCACACGTTTCTGCAGCATCTTCCGGTGTGCCCAAAGGCTGACATTCTGTGGCACACCACCATGCACAGACCTTCCGGCAGAATCGAAGCGTGGATACAGGCCTAGACGGTCGCGGTAGAAGATGGTAATATTCTGGTTCACAAAACCCTCATTAGGTGAGGCCTGCACATCAAAGGCATTCAGGTCCAGTGGCACCTTGAGGCGTGGGCCACAGTCCTGTGTGGGCACGTCCCACGCTACCACAAAGGGCCGGCCAGTGAAGATGGGTGGTGCTGTGGGCTTGAGCTCCATGGCCCATGACACCGCCAGCACCAGGGCCAATGTAACGGTGGGGCCTGGGCCTGCCCGCATGCTGGGGGCTGCAGGAGGTGTCACCTGCCTGGCACCAGCTCAGGAACTGGAAGAAGGGTTGGGGAGAACAAGTCAGTCTAGGGAATACTGGAAGTGCCCACCTCAAGCCCATCTATGCTCCCAAAGCCCATGCTGTGTGGGGGCACTGTGCTCATGGCTGTAATAGGTTTGAGAGACCACAGGCCACTGCAGGGCAGACAAGGCACCCTGGGAACTCACTGCCAGAAGCACAGGGCTCTTTTCTGGAGCAGGTAGCCTGTGGCTCGGCACAAATCTCTATTAGGTCTGTGACCCTTCTAAGAACTAGATAATTTGGGCTCACCAGAGTCACATATATGCCTGCATACCATCCAGTACATGGTTTCAGAGAACCCTGAACAGCTGATGCCCACCCTGTACACCGTGAAGAACCCTTGATCCAGAGAAACGACAGCATTTGGGTAAAGCAGGGAACAGCTCGTCAAGAGGCTACGAAACTGGAAGGAACGCTGCCGGGAGGCTTCTATCCGTGTAACACTCGCCCGGCAGAAGAGTGAGGCTCTCCGGACTTTCTCTCGAGCGCTGACACTCTCCCGGCTTGGAGGAGGCCCCGTAGGGACAAAGGGGCAGCGGACCTCCCACGGCGGCGCCGGCCGCCCGGCCCTTCCCTCCACCGCCACCGGGAATGCGCGCGCTCGCCTCCCCCGCCCGGCCGCTCAGGGCTAGAGCGCGCTCCGCCGGGTCTTTGTGCGGGACCCCGCCCCCGCCCCACACGTGGGGCCTGCGCCCGGTCGGGTGGGGGTGGGGTTTCTGGGACGCCTCTCCGCGAGCACCCCCGGGGATTCAGACCCCAGCCCAAGGGGAGAGAGCCGCCAGGTTTGCACCGCCCGCCCTCACCTCGCGCGGGGCGCCACCGGGACCGGCGCCAGGGCCACCGCCATCCCGGGCCCAGCCCAGCCCGCTCCGGCCGTTCGCCCAGGCGCGGCCCGGCTCAGCGCCTCTGCTGGCTCCGCCCCCAGGCACGCTGGCCCTTTAAGACTCCAGTGCGGAGGTGGGCCCGGGATTGGACTTGCGGACGGGGCGGGAAGGTGTGGTCCACCTTTCTCGGTGCCGGTGCCTCGTTTCGGGCTCGAAGAGCCCCAGGTCCTCTGCAGAGGGACGTGGCCGCCCATTTAGGACCCTAATGCCCCTCTGAGCCGGGCTTTCTATGGGAGTCTCAGCCACGAGCGCCAGTCAGCCTGAAATGTTTCCCCTGCAGCCCGAGGCCGGTGGTTCAGTCCTCCCAGCTCCGCGGCGCCGCCAGCCCTTTAAAGAGACAGTGTGAGGGACAAGGCAGGGGGACGGGAAGGGGGGGGGGGGGAATAGGAGGAGGCGTTGCCCCGTTCGGCCATCAGGAGGTGCTGTGGTACTCCGAGGTTGGCAGGGGGCAGCACCAGATCTGGCTCTGCACCCCCTAACGTAGACGCCAGCCGTGGGTCCCCTTTGTGTGGAAAAAGGGACTTTGACCTGAGGCGACCTCTGGTCTCCTGGAGAGTAGTGCCCCGCCTCCCACGAATCAGGGGCCCCCTTCTCTGGTCCGCCGTCTAAAGGGAGGCCCCGCCCCCTGCCAGACTGAGGGAAGGGGCC
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TGCCCTCCTGGGCTTCCTGGGGGCTCTGCCCACTCCAGACTCCAGTTTGTCCACCCCCTGCAGGGTCCTACATGCCTAAGAGAGCCCTTGTGGTAGAGGCCAGCTTGCTAGGCAGCTAGGCAGGAGACCCCTACAAGGTCCAGGTAAAGGCCAGGGCTGCCAGAGCCAGCAGACTGGTGAGGTGGGACCCAGCCCAGGCCTCGCTGGCACCTCCAGCTGCCTGCCTATGGTCCCACTGGCATTGCTCACCACTCCAGCCCAAGTAGCACTGGCAGCGGAAGTGTGTCTGCAGGTGGTCAATGTCGGCCCAACTGAGCTCCCCCACAGGTCGCAGCTGGGGTTCACCAGGTGCATGGCCAGGCACTAGGCGGAAACTGTTGGTGCTGAGATGCAGGAAGGTACTGGCACTGGGGTTGCGGCGCACACAGCGCCCATGGCCATGGCACTGGGCCCGGCTGCAATATTGGGTGGCCCAGGACACATTGACCACGTAGGGGACCAGCAGCCGTGTCAGGTAATCTTTGAGGTACTGGCAGGTCTCCTGGAGGCAGAAGACAAGGACCACAGGTCAGGGTCAGCTGCCTCAGCCCACAGGCCCAGATGGAAACTGTGTCCACACTGTGATGACTATACCTTATTTTAACTGCACACATTCATACATTCAATCTGCACCTGAGCCACACAGTCCCTGCTCCTGCTGAGAAGTGGGTGGGGGTACAGACCGGAACCCAGTTGGGCAGATGGGGAAGGGCGGAACTCAACAGCTGTTCAGGACAGCATTTCCTCTTTCCTGAGAGCAGGGCCGGGGTGACCTCCTCCTGTTGCCACCAGGGATGCCTCGGGTGGGAGACAGACAAGGGGACCAGACTAGGATTGCCCACCTGAGGTTGGTAGCCAAAGGCCCTAACTCTCTGTCTGTCCCATAGACTGAGCTCTGGCAGGCTGGGTCTCGCTTACCGTGCTTGTGGTGTACCCCGCGTCACCCCAGAGGATGACACCAGCTGCGCCCAGGGCCGCACTCTCGCCAATGGTAGAGATGAGGTCCATCTATGCAGGAAAAGGGATGGTCACTGGGGAAGACTGAGACCACAGGGTGACAGGAACAGACAAGGAGGGCAGACCCCAGCCTGATTCAACCTGCTGAACTCCCAGCTCAACCCCCATTTCACGTCCAGGCAGAGGCTCATTTGTTTTGCTTCCTTTTTAAACATTTAAGTCCATTTCCACCCCACTTTTGGGGCTCAGTTTCCCAAGCCAAGGGCACACTTGAGCCTAGGTGCAGCTATCAGGATGGATTCCAAAGTTAGAAGGCCTGGGCCCCAGTCCCAGCTCTGCTCTGGATTTGCTGGGAAGCTTTGGGCAAACTTCTCAGCATCGCTGTGCCTCAATTGTTCTCATCTGAAAAATGGGGATAATGATGTCACCCTTTCAGGTTATAGACAGAATGATTTGAGGGGATGTGGAGCAGCCAATAAACTACAGGTATAGTCCTATAGTGGCCCCTGATAACCCAAATGTGCAGTGGATCCTCAAGGAAGGAGAAAAAAGGCAGGGCCCTGGAGACACATACCTCACTAAGCCCCGTGAGCCTGCGGCTGTAGGTGGGTCGTGTGAAGACGTAGACTGGGAGTGCATGGTTGGCATGGTGGGTGCGAGCCACACGAAGGGCCTCCTGAACACGGAAGCTCACAAAGTTGCGGCCATGGCGGGAGGAAGCAAGTGTCTCGTCCAGGTAGACAGACGGGAAGAGGGCCGTGCTCTCAGCCCACAGCCAGGCCAGCTGGTCATTGCGGGCCACCTCAACATCAGGGCAGCGGCCTGTGTAGCTCTCCCAGTTCTGCACATAATCATGATTGTAGCAGTCAGGAAAGAGGTAGAAGCCCCAGAGGTGCCGGGGCCGCACTGCCTTGACATAACGCAGTGTCTCCAGCATGAACTGCTGTGCTGCGAACTCAAACTCATATTGTGCCTGTTTGACTATGCGGTCTGGAGGCCAGTCAGGGTGACGACTGGCCACTAGCTGGCGTGATAACCGGCGATACACATCTCTGTCCTGCCAGTTGCGCACCCACACAGGTCGCCAGTCCTCCCAGTCGATGACCGCCAGCCCCGCAGACTCCTGTGTCCGAATGTAGTGCTCCACACGTTTCTGCAGCATCTTCCGGTGTGCCCAAAGGCTGACATTCTGTGGCACACCACCATGCACAGACCTTCCGGCAGAATCGAAGCGTGGATACAGGCCTAGACGGTCGCGGTAGAAGATGGTAATATTCTGGTTCACAAAACCCTCATTAGGTGAGGCCTGCACATCAAAGGCATTCAGGTCCAGTGGCACCTTGAGGCGTGGGCCACAGTCCTGTGTGGGCACGTCCCACGCTACCACAAAGGGCCGGCCAGTGAAGATGGGTGGTGCTGTGGGCTTGAGCTCCATGGCCCATGACACCGCCAGCACCAGGGCCAATGTAACGGTGGGGCCTGGGCCTGCCCGCATGCTGGGGGCTGCAGGAGGTGTCACCTGCCTGGCACCAGCTCAGGAACTGGAAGAAGGGTTGGGGAGAACAAGTCAGTCTAGGGAATACTGGAAGTGCCCACCTCAAGCCCATCTATGCTCCCAAAGCCCATGCTGTGTGGGGGCACTGTGCTCATGGCTGTAATAGGTTTGAGAGACCACAGGCCACTGCAGGGCAGACAAGGCACCCTGGGAACTCACTGCCAGAAGCACAGGGCTCTTTTCTGGAGCAGGTAGCCTGTGGCTCGGCACAAATCTCTATTAGGTCTGTGACCCTTCTAAGAACTAGATAATTTGGGCTCACCAGAGTCACATATATGCCTGCATACCATCCAGTACATGGTTTCAGAGAACCCTGAACAGCTGATGCCCACCCTGTACACCGTGAAGAACCCTTGATCCAGAGAAACGACAGCATTTGGGTAAAGCAGGGAACAGCTCGTCAAGAGGCTACGAAACTGGAAGGAACGCTGCCGGGAGGCTTCTATCCGTGTAACACTCGCCCGGCAGAAGAGTGAGGCTCTCCGGACTTTCTCTCGAGCGCTGACACTCTCCCGGCTTGGAGGAGGCCCCGTAGGGACAAAGGGGCAGCGGACCTCCCACGGCGGCGCCGGCCGCCCGGCCCTTCCCTCCACCGCCACCGGGAATGCGCGCGCTCGCCTCCCCCGCCCGGCCGCTCAGGGCTAGAGCGCGCTCCGCCGGGTCTTTGTGCGGGACCCCGCCCCCGCCCCACACGTGGGGCCTGCGCCCGGTCGGGTGGGGGTGGGGTTTCTGGGACGCCTCTCCGCGAGCACCCCCGGGGATTCAGACCCCAGCCCAAGGGGAGAGAGCCGCCAGGTTTGCACCGCCCGCCCTCACCTCGCGCGGGGCGCCACCGGGACCGGCGCCAGGGCCACCGCCATCCCGGGCCCAGCCCAGCCCGCTCCGGCCGTTCGCCCAGGCGCGGCCCGGCTCAGCGCCTCTGCTGGCTCCGCCCCCAGGCACGCTGGCCCTTTAAGACTCCAGTGCGGAGGTGGGCCCGGGATTGGACTTGCGGACGGGGCGGGAAGGTGTGGTCCACCTTTCTCGGTGCCGGTGCCTCGTTTCGGGCTCGAAGAGCCCCAGGTCCTCTGCAGAGGGACGTGGCCGCCCATTTAGGACCCTAATGCCCCTCTGAGCCGGGCTTTCTATGGGAGTCTCAGCCACGAGCGCCAGTCAGCCTGAAATGTTTCCCCTGCAGCCCGAGGCCGGTGGTTCAGTCCTCCCAGCTCCGCGGCGCCGCCAGCCCTTTAAAGAGACAGTGTGAGGGACAAGGCAGGGGGACGGGAAGGGGGGGGGGGGGAATAGGAGGAGGCGTTGCCCCGTTCGGCCATCAGGAGGTGCTGTGGTACTCCGAGGTTGGCAGGGGGCAGCACCAGATCTGGCTCTGCACCCCCTAACGTAGACGCCAGCCGTGGGTCCCCTTTGTGTGGAAAAAGGGACTTTGACCTGAGGCGACCTCTGGTCTCCTGGAGAGTAGTGCCCCGCCTCCCACGAATCAGGGGCCCCCTTCTCTGGTCCGCCGTCTAAAGGGAGGCCCCGCCCCCTGCCAGACTGAGGGAAGGGGCC
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Task1_train_7051
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Gene HYAL2 (hyaluronidase 2), found on Chromosome 3, is impacted by this variant. What is the biological outcome — benign or pathogenic?
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Pathogenic; Muggenthaler-Chowdhury-Chioza syndrome
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TGCCCTCCTGGGCTTCCTGGGGGCTCTGCCCACTCCAGACTCCAGTTTGTCCACCCCCTGCAGGGTCCTACATGCCTAAGAGAGCCCTTGTGGTAGAGGCCAGCTTGCTAGGCAGCTAGGCAGGAGACCCCTACAAGGTCCAGGTAAAGGCCAGGGCTGCCAGAGCCAGCAGACTGGTGAGGTGGGACCCAGCCCAGGCCTCGCTGGCACCTCCAGCTGCCTGCCTATGGTCCCACTGGCATTGCTCACCACTCCAGCCCAAGTAGCACTGGCAGCGGAAGTGTGTCTGCAGGTGGTCAATGTCGGCCCAACTGAGCTCCCCCACAGGTCGCAGCTGGGGTTCACCAGGTGCATGGCCAGGCACTAGGCGGAAACTGTTGGTGCTGAGATGCAGGAAGGTACTGGCACTGGGGTTGCGGCGCACACAGCGCCCATGGCCATGGCACTGGGCCCGGCTGCAATATTGGGTGGCCCAGGACACATTGACCACGTAGGGGACCAGCAGCCGTGTCAGGTAATCTTTGAGGTACTGGCAGGTCTCCTGGAGGCAGAAGACAAGGACCACAGGTCAGGGTCAGCTGCCTCAGCCCACAGGCCCAGATGGAAACTGTGTCCACACTGTGATGACTATACCTTATTTTAACTGCACACATTCATACATTCAATCTGCACCTGAGCCACACAGTCCCTGCTCCTGCTGAGAAGTGGGTGGGGGTACAGACCGGAACCCAGTTGGGCAGATGGGGAAGGGCGGAACTCAACAGCTGTTCAGGACAGCATTTCCTCTTTCCTGAGAGCAGGGCCGGGGTGACCTCCTCCTGTTGCCACCAGGGATGCCTCGGGTGGGAGACAGACAAGGGGACCAGACTAGGATTGCCCACCTGAGGTTGGTAGCCAAAGGCCCTAACTCTCTGTCTGTCCCATAGACTGAGCTCTGGCAGGCTGGGTCTCGCTTACCGTGCTTGTGGTGTACCCCGCGTCACCCCAGAGGATGACACCAGCTGCGCCCAGGGCCGCACTCTCGCCAATGGTAGAGATGAGGTCCATCTATGCAGGAAAAGGGATGGTCACTGGGGAAGACTGAGACCACAGGGTGACAGGAACAGACAAGGAGGGCAGACCCCAGCCTGATTCAACCTGCTGAACTCCCAGCTCAACCCCCATTTCACGTCCAGGCAGAGGCTCATTTGTTTTGCTTCCTTTTTAAACATTTAAGTCCATTTCCACCCCACTTTTGGGGCTCAGTTTCCCAAGCCAAGGGCACACTTGAGCCTAGGTGCAGCTATCAGGATGGATTCCAAAGTTAGAAGGCCTGGGCCCCAGTCCCAGCTCTGCTCTGGATTTGCTGGGAAGCTTTGGGCAAACTTCTCAGCATCGCTGTGCCTCAATTGTTCTCATCTGAAAAATGGGGATAATGATGTCACCCTTTCAGGTTATAGACAGAATGATTTGAGGGGATGTGGAGCAGCCAATAAACTACAGGTATAGTCCTATAGTGGCCCCTGATAACCCAAATGTGCAGTGGATCCTCAAGGAAGGAGAAAAAAGGCAGGGCCCTGGAGACACATACCTCACTAAGCCCCGTGAGCCTGCGGCTGTAGGTGGGTCGTGTGAAGACGTAGACTGGGAGTGCATGGTTGGCATGGTGGGTGCGAGCCACACGAAGGGCCTCCTGAACACGGAAGCTCACAAAGTTGCGGCCATGGCGGGAGGAAGCAAGTGTCTCGTCCAGGTAGACAGACGGGAAGAGGGCCGTGCTCTCAGCCCACAGCCAGGCCAGCTGGTCATTGCGGGCCACCTCAACATCAGGGCAGCGGCCTGTGTAGCTCTCCCAGTTCTGCACATAATCATGATTGTAGCAGTCAGGAAAGAGGTAGAAGCCCCAGAGGTGCCGGGGCCGCACTGCCTTGACATAACGCAGTGTCTCCAGCATGAACTGCTGTGCTGCGAACTCAAACTCATATTGTGCCTGTTTGACTATGCGGTCTGGAGGCCAGTCAGGGTGACGACTGGCCACTAGCTGGCGTGATAACCGGCGATACACATCTTTGTCCTGCCAGTTGCGCACCCACACAGGTCGCCAGTCCTCCCAGTCGATGACCGCCAGCCCCGCAGACTCCTGTGTCCGAATGTAGTGCTCCACACGTTTCTGCAGCATCTTCCGGTGTGCCCAAAGGCTGACATTCTGTGGCACACCACCATGCACAGACCTTCCGGCAGAATCGAAGCGTGGATACAGGCCTAGACGGTCGCGGTAGAAGATGGTAATATTCTGGTTCACAAAACCCTCATTAGGTGAGGCCTGCACATCAAAGGCATTCAGGTCCAGTGGCACCTTGAGGCGTGGGCCACAGTCCTGTGTGGGCACGTCCCACGCTACCACAAAGGGCCGGCCAGTGAAGATGGGTGGTGCTGTGGGCTTGAGCTCCATGGCCCATGACACCGCCAGCACCAGGGCCAATGTAACGGTGGGGCCTGGGCCTGCCCGCATGCTGGGGGCTGCAGGAGGTGTCACCTGCCTGGCACCAGCTCAGGAACTGGAAGAAGGGTTGGGGAGAACAAGTCAGTCTAGGGAATACTGGAAGTGCCCACCTCAAGCCCATCTATGCTCCCAAAGCCCATGCTGTGTGGGGGCACTGTGCTCATGGCTGTAATAGGTTTGAGAGACCACAGGCCACTGCAGGGCAGACAAGGCACCCTGGGAACTCACTGCCAGAAGCACAGGGCTCTTTTCTGGAGCAGGTAGCCTGTGGCTCGGCACAAATCTCTATTAGGTCTGTGACCCTTCTAAGAACTAGATAATTTGGGCTCACCAGAGTCACATATATGCCTGCATACCATCCAGTACATGGTTTCAGAGAACCCTGAACAGCTGATGCCCACCCTGTACACCGTGAAGAACCCTTGATCCAGAGAAACGACAGCATTTGGGTAAAGCAGGGAACAGCTCGTCAAGAGGCTACGAAACTGGAAGGAACGCTGCCGGGAGGCTTCTATCCGTGTAACACTCGCCCGGCAGAAGAGTGAGGCTCTCCGGACTTTCTCTCGAGCGCTGACACTCTCCCGGCTTGGAGGAGGCCCCGTAGGGACAAAGGGGCAGCGGACCTCCCACGGCGGCGCCGGCCGCCCGGCCCTTCCCTCCACCGCCACCGGGAATGCGCGCGCTCGCCTCCCCCGCCCGGCCGCTCAGGGCTAGAGCGCGCTCCGCCGGGTCTTTGTGCGGGACCCCGCCCCCGCCCCACACGTGGGGCCTGCGCCCGGTCGGGTGGGGGTGGGGTTTCTGGGACGCCTCTCCGCGAGCACCCCCGGGGATTCAGACCCCAGCCCAAGGGGAGAGAGCCGCCAGGTTTGCACCGCCCGCCCTCACCTCGCGCGGGGCGCCACCGGGACCGGCGCCAGGGCCACCGCCATCCCGGGCCCAGCCCAGCCCGCTCCGGCCGTTCGCCCAGGCGCGGCCCGGCTCAGCGCCTCTGCTGGCTCCGCCCCCAGGCACGCTGGCCCTTTAAGACTCCAGTGCGGAGGTGGGCCCGGGATTGGACTTGCGGACGGGGCGGGAAGGTGTGGTCCACCTTTCTCGGTGCCGGTGCCTCGTTTCGGGCTCGAAGAGCCCCAGGTCCTCTGCAGAGGGACGTGGCCGCCCATTTAGGACCCTAATGCCCCTCTGAGCCGGGCTTTCTATGGGAGTCTCAGCCACGAGCGCCAGTCAGCCTGAAATGTTTCCCCTGCAGCCCGAGGCCGGTGGTTCAGTCCTCCCAGCTCCGCGGCGCCGCCAGCCCTTTAAAGAGACAGTGTGAGGGACAAGGCAGGGGGACGGGAAGGGGGGGGGGGGGAATAGGAGGAGGCGTTGCCCCGTTCGGCCATCAGGAGGTGCTGTGGTACTCCGAGGTTGGCAGGGGGCAGCACCAGATCTGGCTCTGCACCCCCTAACGTAGACGCCAGCCGTGGGTCCCCTTTGTGTGGAAAAAGGGACTTTGACCTGAGGCGACCTCTGGTCTCCTGGAGAGTAGTGCCCCGCCTCCCACGAATCAGGGGCCCCCTTCTCTGGTCCGCCGTCTAAAGGGAGGCCCCGCCCCCTGCCAGACTGAGGGAAGGGGCC
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TGCCCTCCTGGGCTTCCTGGGGGCTCTGCCCACTCCAGACTCCAGTTTGTCCACCCCCTGCAGGGTCCTACATGCCTAAGAGAGCCCTTGTGGTAGAGGCCAGCTTGCTAGGCAGCTAGGCAGGAGACCCCTACAAGGTCCAGGTAAAGGCCAGGGCTGCCAGAGCCAGCAGACTGGTGAGGTGGGACCCAGCCCAGGCCTCGCTGGCACCTCCAGCTGCCTGCCTATGGTCCCACTGGCATTGCTCACCACTCCAGCCCAAGTAGCACTGGCAGCGGAAGTGTGTCTGCAGGTGGTCAATGTCGGCCCAACTGAGCTCCCCCACAGGTCGCAGCTGGGGTTCACCAGGTGCATGGCCAGGCACTAGGCGGAAACTGTTGGTGCTGAGATGCAGGAAGGTACTGGCACTGGGGTTGCGGCGCACACAGCGCCCATGGCCATGGCACTGGGCCCGGCTGCAATATTGGGTGGCCCAGGACACATTGACCACGTAGGGGACCAGCAGCCGTGTCAGGTAATCTTTGAGGTACTGGCAGGTCTCCTGGAGGCAGAAGACAAGGACCACAGGTCAGGGTCAGCTGCCTCAGCCCACAGGCCCAGATGGAAACTGTGTCCACACTGTGATGACTATACCTTATTTTAACTGCACACATTCATACATTCAATCTGCACCTGAGCCACACAGTCCCTGCTCCTGCTGAGAAGTGGGTGGGGGTACAGACCGGAACCCAGTTGGGCAGATGGGGAAGGGCGGAACTCAACAGCTGTTCAGGACAGCATTTCCTCTTTCCTGAGAGCAGGGCCGGGGTGACCTCCTCCTGTTGCCACCAGGGATGCCTCGGGTGGGAGACAGACAAGGGGACCAGACTAGGATTGCCCACCTGAGGTTGGTAGCCAAAGGCCCTAACTCTCTGTCTGTCCCATAGACTGAGCTCTGGCAGGCTGGGTCTCGCTTACCGTGCTTGTGGTGTACCCCGCGTCACCCCAGAGGATGACACCAGCTGCGCCCAGGGCCGCACTCTCGCCAATGGTAGAGATGAGGTCCATCTATGCAGGAAAAGGGATGGTCACTGGGGAAGACTGAGACCACAGGGTGACAGGAACAGACAAGGAGGGCAGACCCCAGCCTGATTCAACCTGCTGAACTCCCAGCTCAACCCCCATTTCACGTCCAGGCAGAGGCTCATTTGTTTTGCTTCCTTTTTAAACATTTAAGTCCATTTCCACCCCACTTTTGGGGCTCAGTTTCCCAAGCCAAGGGCACACTTGAGCCTAGGTGCAGCTATCAGGATGGATTCCAAAGTTAGAAGGCCTGGGCCCCAGTCCCAGCTCTGCTCTGGATTTGCTGGGAAGCTTTGGGCAAACTTCTCAGCATCGCTGTGCCTCAATTGTTCTCATCTGAAAAATGGGGATAATGATGTCACCCTTTCAGGTTATAGACAGAATGATTTGAGGGGATGTGGAGCAGCCAATAAACTACAGGTATAGTCCTATAGTGGCCCCTGATAACCCAAATGTGCAGTGGATCCTCAAGGAAGGAGAAAAAAGGCAGGGCCCTGGAGACACATACCTCACTAAGCCCCGTGAGCCTGCGGCTGTAGGTGGGTCGTGTGAAGACGTAGACTGGGAGTGCATGGTTGGCATGGTGGGTGCGAGCCACACGAAGGGCCTCCTGAACACGGAAGCTCACAAAGTTGCGGCCATGGCGGGAGGAAGCAAGTGTCTCGTCCAGGTAGACAGACGGGAAGAGGGCCGTGCTCTCAGCCCACAGCCAGGCCAGCTGGTCATTGCGGGCCACCTCAACATCAGGGCAGCGGCCTGTGTAGCTCTCCCAGTTCTGCACATAATCATGATTGTAGCAGTCAGGAAAGAGGTAGAAGCCCCAGAGGTGCCGGGGCCGCACTGCCTTGACATAACGCAGTGTCTCCAGCATGAACTGCTGTGCTGCGAACTCAAACTCATATTGTGCCTGTTTGACTATGCGGTCTGGAGGCCAGTCAGGGTGACGACTGGCCACTAGCTGGCGTGATAACCGGCGATACACATCTCTGTCCTGCCAGTTGCGCACCCACACAGGTCGCCAGTCCTCCCAGTCGATGACCGCCAGCCCCGCAGACTCCTGTGTCCGAATGTAGTGCTCCACACGTTTCTGCAGCATCTTCCGGTGTGCCCAAAGGCTGACATTCTGTGGCACACCACCATGCACAGACCTTCCGGCAGAATCGAAGCGTGGATACAGGCCTAGACGGTCGCGGTAGAAGATGGTAATATTCTGGTTCACAAAACCCTCATTAGGTGAGGCCTGCACATCAAAGGCATTCAGGTCCAGTGGCACCTTGAGGCGTGGGCCACAGTCCTGTGTGGGCACGTCCCACGCTACCACAAAGGGCCGGCCAGTGAAGATGGGTGGTGCTGTGGGCTTGAGCTCCATGGCCCATGACACCGCCAGCACCAGGGCCAATGTAACGGTGGGGCCTGGGCCTGCCCGCATGCTGGGGGCTGCAGGAGGTGTCACCTGCCTGGCACCAGCTCAGGAACTGGAAGAAGGGTTGGGGAGAACAAGTCAGTCTAGGGAATACTGGAAGTGCCCACCTCAAGCCCATCTATGCTCCCAAAGCCCATGCTGTGTGGGGGCACTGTGCTCATGGCTGTAATAGGTTTGAGAGACCACAGGCCACTGCAGGGCAGACAAGGCACCCTGGGAACTCACTGCCAGAAGCACAGGGCTCTTTTCTGGAGCAGGTAGCCTGTGGCTCGGCACAAATCTCTATTAGGTCTGTGACCCTTCTAAGAACTAGATAATTTGGGCTCACCAGAGTCACATATATGCCTGCATACCATCCAGTACATGGTTTCAGAGAACCCTGAACAGCTGATGCCCACCCTGTACACCGTGAAGAACCCTTGATCCAGAGAAACGACAGCATTTGGGTAAAGCAGGGAACAGCTCGTCAAGAGGCTACGAAACTGGAAGGAACGCTGCCGGGAGGCTTCTATCCGTGTAACACTCGCCCGGCAGAAGAGTGAGGCTCTCCGGACTTTCTCTCGAGCGCTGACACTCTCCCGGCTTGGAGGAGGCCCCGTAGGGACAAAGGGGCAGCGGACCTCCCACGGCGGCGCCGGCCGCCCGGCCCTTCCCTCCACCGCCACCGGGAATGCGCGCGCTCGCCTCCCCCGCCCGGCCGCTCAGGGCTAGAGCGCGCTCCGCCGGGTCTTTGTGCGGGACCCCGCCCCCGCCCCACACGTGGGGCCTGCGCCCGGTCGGGTGGGGGTGGGGTTTCTGGGACGCCTCTCCGCGAGCACCCCCGGGGATTCAGACCCCAGCCCAAGGGGAGAGAGCCGCCAGGTTTGCACCGCCCGCCCTCACCTCGCGCGGGGCGCCACCGGGACCGGCGCCAGGGCCACCGCCATCCCGGGCCCAGCCCAGCCCGCTCCGGCCGTTCGCCCAGGCGCGGCCCGGCTCAGCGCCTCTGCTGGCTCCGCCCCCAGGCACGCTGGCCCTTTAAGACTCCAGTGCGGAGGTGGGCCCGGGATTGGACTTGCGGACGGGGCGGGAAGGTGTGGTCCACCTTTCTCGGTGCCGGTGCCTCGTTTCGGGCTCGAAGAGCCCCAGGTCCTCTGCAGAGGGACGTGGCCGCCCATTTAGGACCCTAATGCCCCTCTGAGCCGGGCTTTCTATGGGAGTCTCAGCCACGAGCGCCAGTCAGCCTGAAATGTTTCCCCTGCAGCCCGAGGCCGGTGGTTCAGTCCTCCCAGCTCCGCGGCGCCGCCAGCCCTTTAAAGAGACAGTGTGAGGGACAAGGCAGGGGGACGGGAAGGGGGGGGGGGGGAATAGGAGGAGGCGTTGCCCCGTTCGGCCATCAGGAGGTGCTGTGGTACTCCGAGGTTGGCAGGGGGCAGCACCAGATCTGGCTCTGCACCCCCTAACGTAGACGCCAGCCGTGGGTCCCCTTTGTGTGGAAAAAGGGACTTTGACCTGAGGCGACCTCTGGTCTCCTGGAGAGTAGTGCCCCGCCTCCCACGAATCAGGGGCCCCCTTCTCTGGTCCGCCGTCTAAAGGGAGGCCCCGCCCCCTGCCAGACTGAGGGAAGGGGCC
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Task1_train_7052
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The variant affects gene ZMYND10 (zinc finger MYND-type containing 10), which is on Chromosome 3. Please evaluate whether this mutation is benign or pathogenic and specify the disease if necessary.
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Pathogenic; Primary ciliary dyskinesia
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GGCGAAAGTAACGGACCTAGTCCTCGGGAGCTGTCCCCGCCGACCCCCTCTGCCGCGACTTGACCCGCGGCGACTGCGCTGCCCCTTGGCTGCCCCTTCCGCTCTCGTAGGCGCGCGGGGCCACTACTCACGCGCGCACTGCAGGCCTTTGCGCACGACGCCCCAGATGAAGTCGCCACAGAGGTCGCACCACGTGTGCGTGGCGGGCCCCGCGGGCTGGAAGCGGTGGCCACGGCCAGGGACCAGCTGCCGTGTGGGGTTGCACGCGGTGCCCCGCGCGATGCGCAGCGCGTTGGCACGCTCCAGCCGGGTGCGGCCCTTCCCAGCGCGCCCAGCGGGTGCCAGCTCCCGCAGCTCAATGAGCTCAGGCTCCCCCGACATGGCCCGGTTGGGCCCGTGCTTCGCTGGCTTTGGGCGCTAGCAAGCGCGGGCCGGGCGGGGCCACAGGGCGGGCCCCGACTTCAGCGCCTCCCCCAGGATCCAGACTGGGCGGCGGGAAGGAGCTGAGGAGAGCCGCGCAATGGAAACCTGGGTGCAGGGACTGTGGGGCCCGAAGGCGGGGCTGGGCGCGCTCTCGCAGAGCCCCCCCCGCCTTGCCCTTCCTTCCCTCCTTCGTCCCCTCCTCACACCCCACCCCGGACGGCCACAACGACGGCGACCGCAAAGCACCACGCGGAGATACCCGTGTTTCTGGAGGCCAGCTTTACTGTGCTAGAGGAAGAGGGTCCCCACATCCGGCCCTGGCCCTCCTGGTCCGGTTTGCTGAAGCAACACACTTGGCCTACCCACTGGGTGGGGCAGGAAGTCTCGAGCCTTCACTTGGGGTGAGGAGGAGGGAGATCGGTCAGCAGCTTTACCGCCCGCTCTGCTCTCCACTGCGGAGACTGGGGCTCCGGCAGAGGCTGGACCGTGATCTTGAGGTTCAGGGGTGCATTCTGGGTGGATTCCCTTGGCATGGGTGGTCGGCCCTCAGCAACTGCAGCCCTCATTTGGCTCTGTCACCCTGGGCTGCCAGGACACAAGTCTTTCCATGCTTTTCCCAGTGCTTGACTTGGCACTCCCTGCAGGCAGGTGGGTATTGAGGATGGCAATGCATGTGGGGGATGTGGGAGTAGGGCTTAGAGGTCCAAGGTTCTAGGATACCCTCACCTGCAGCAATACCACTCATTCTGGCATCGTGAGCAGCGCTTAGAAGCCTCTGCACTGCAGTAAGCACAGCGGGGCCGCTCTGGAGCCACTGCCTCTAGCACATCCAGCCTGTAGGTCTCAGCCCACCTGGGGGAAAGTCAGGAAGGTCTGACTGGCCCTGGAAGGTGGGGGCACCCCACCCACATCCATGCCTCCTGCATCCCCTCCACCCTCCCTGCCATTTCCACAGGCCTTACCTTCGCGCCTGCAGCCGCAGGTCCTGCTCTGAGGGGCTGAACACATGCTGGAGCTGGTGCTTGGCAATTGCCTGCCACTTGCCTCTGTTTTCTCGCTCCAGCCGCTCCCAGATTTCTGGGATCTAGGAGAGAGAAGTGGAGAGTGGCAGGAAGGTGCTGGTAAAGTGGGACAGTGGTCCTGAGCAGCTAACTTTCCAGTGCCTACCTGTTCCAACACCAGGTCCTTCTTAGGAGGCTGGGTTTCAGTTAGGGTCAGATGGGCCAGGAAACTCTGCAAGTGGGCCAGGTTGGGCAGCTGGTCCAGCAGTGTGTCTGTGAGGAAGGCCCGAAGCTGCAAGGGTGTCCAGTGGAGGCCAGTGTGATGCAGGTGCTGGCCAGGGGGCCAAGGAAAAGGAAGGGGCTGGGTTGGGCTGAGAATGCCTGTGGGGGCCCATGTCCCACTAGCTGGTGTGTCACCTGAGGCCCAAGGACTGAAAAGAGCACTGGGGTTGAGGTGGGTGGGCAAAGATAAACAGCAGGGACGCAGTCGGGGTAGGATGGGGAGGGCGGTACTGGGGCTGTGGGGGCTGGTGCGGAGGGAGTCTGACCTTGAGTAGCCGTCCCTTGGCAAAACTTGTGAGGCAGTAGCGCGCCTGAGCCTCAGGGCTTAGCAGCAGGTTGTACAGGGCGATCCACACTTGCCCGTCCAACTTGCTCAGCTTTTGCTGCTCTGAGGGGGCCACAGTATGCCAACGGCTGCCCTCGAACTGCTGCAGCTTGCCTGGGGAGAGGAACCAGCACACTGGGTGCAGACGTTGAATTCTCTTCAAGTGAGCCAGCTGTGGGGGCTGGGAGACTGACCACTGCCTGGGAATGGGAGAACCTGGGCTGCAGGACTTGCCCAGGCTATAGGGCTGCTGACCCCAGAGCAGGGTGAGCCTCAGTAGTGGACACATGGGCCTGGCCTGCTGCAGAGCTCAGGTCTAGGCCAACCTTGGCTGAGGCATCCTGGTATCCTCAGTGGGCTTGGGGACAGGGTTTGTCTTCGTGTGTGCAAGCTGCCCCCCTCTATCAAAAAGATACCCTGAAGCAGTAGCCTGGGGCTTAGGCTGGTGGGGGAGGACCCTACCTCCTTCCCGCCGGCTCCAGGGACTATGCTCCAGCAGTTCCACCAGGAGGCAGGGCAGGTTGTGTGTGCTAAGCATACGGCTCAAGGTGCTGAGAGAGAGGCTAGGGGCAGGGACGTTGTGAAGGAGGTGAGTAGAGGCAGGCTACAGGCCCGGTCTTCCAGCCCTCCACAGTAGGCCCAGGCCCAGTCGGACTGCTCACCTGTCCACACAGTCTGTGATGTAGCGTAGTACTGAGAGGGCCTTCAGTGCAATCTCAAATTCCATCAGCTCTGCCTGCTTCTGCAGCTCCTGGGAGGTCACACAGTGTTCACGCTGGGCCACCCTCACCTGCGCAGGCCTTGGGGAACCCAGACCTAGGCTTTCACAACCCTAGGTAACCTCAACCCACCTGCATGGGGTTGCTGTCCTGGGATCCCTCCCCCTCAGGGGGGCCACCACAGCCACTCTGGGCCACCAGCAGGGTCAGTTTGCGGTGGCAATAGTCTACCAAGTCCAAGACAGTGTCTTCTGCTGACTCACACACCTCCTGGGAAAAGGAGGAGGGAAACTTTCTGTGTCTGATGCCTTCCCCACACAGACACAATCTCCCTTCCTGCCAGGCCCTGACCCGGAACTGTGGCCCATGGGCAGAGATAGTCCCTCACCTTGTGGAAGAACACTGTCTCCAAGAGGTTGATGATGGAGGCCTCGTGGTGCACCTGTCAGATAAAGAGAAGGACAGGGCCTGAGGAAGGGATAGGGGCTACCAGCTCTCCTCCCCGGTCCAGAGCCCTCTGAAGGAGTGAGAAGAGGTATGAACCAGGGGCCCAGCTCACCACCATGTAGATGGGGAAGGTGTTCTGGGGCTTGAAGTCCTCCACCCTGCAGAACACAGGGAACACCTTCTGCTTCCACATCTCCACTGCGATCAGCTCCTCCACCAGTGTTGGGACCTTTGAAGGGTAGGGTAAAGGACAGGGATGAGATGGGCCTACCTTTGCCTGGCAACCCTCCCATCCCCGGCTCAGCTCAACCCTGATATCCCCAAACACTGCTGGGCCCCTAAACTATTCCAGACCCATGAGTATCCTTCCTGACTTCTCTCTTGCACCTTGGACCTTCATTACCAGCTGCTCCCAACACCTCTGTGGATGTCCCTCATGCTTATGTGACTGGCTCCTGCCCAGTTCCCAGACTGCCTTGCCCTGCCTGCACCTGCACCCTTATCCTCTGCCCGCCCATTCAGGCATCCCTTTCAAGCCAGCCCTTCTCCTCATGCCCTCCCTCTAGTCCCTGTCTGTGGTCCTCCAAAGCTCTTGTGTGCCTTGGCCTCACTCCTACTCAGGACCCTTCACAGTGCCCTGTTCCTATCCTATCCCCTAGTATGAGTTCCATCTTTCTTTTGCAAAGGACCTTTCTTTTTTTTTTTTTTTTTTTTGAGACGGAGTTTCACTCTTGTCACCCAGGCTGGAGTGCAGTGGCATGATCTTGGCTCTCTGTAACCTCTGCCTCCCAGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGATTACAGGTGTGCACCACCATGCTCTGCAAATTTTTGTATTTTTAGTAGAGGTGGGGTTTCACCAT
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GGCGAAAGTAACGGACCTAGTCCTCGGGAGCTGTCCCCGCCGACCCCCTCTGCCGCGACTTGACCCGCGGCGACTGCGCTGCCCCTTGGCTGCCCCTTCCGCTCTCGTAGGCGCGCGGGGCCACTACTCACGCGCGCACTGCAGGCCTTTGCGCACGACGCCCCAGATGAAGTCGCCACAGAGGTCGCACCACGTGTGCGTGGCGGGCCCCGCGGGCTGGAAGCGGTGGCCACGGCCAGGGACCAGCTGCCGTGTGGGGTTGCACGCGGTGCCCCGCGCGATGCGCAGCGCGTTGGCACGCTCCAGCCGGGTGCGGCCCTTCCCAGCGCGCCCAGCGGGTGCCAGCTCCCGCAGCTCAATGAGCTCAGGCTCCCCCGACATGGCCCGGTTGGGCCCGTGCTTCGCTGGCTTTGGGCGCTAGCAAGCGCGGGCCGGGCGGGGCCACAGGGCGGGCCCCGACTTCAGCGCCTCCCCCAGGATCCAGACTGGGCGGCGGGAAGGAGCTGAGGAGAGCCGCGCAATGGAAACCTGGGTGCAGGGACTGTGGGGCCCGAAGGCGGGGCTGGGCGCGCTCTCGCAGAGCCCCCCCCGCCTTGCCCTTCCTTCCCTCCTTCGTCCCCTCCTCACACCCCACCCCGGACGGCCACAACGACGGCGACCGCAAAGCACCACGCGGAGATACCCGTGTTTCTGGAGGCCAGCTTTACTGTGCTAGAGGAAGAGGGTCCCCACATCCGGCCCTGGCCCTCCTGGTCCGGTTTGCTGAAGCAACACACTTGGCCTACCCACTGGGTGGGGCAGGAAGTCTCGAGCCTTCACTTGGGGTGAGGAGGAGGGAGATCGGTCAGCAGCTTTACCGCCCGCTCTGCTCTCCACTGCGGAGACTGGGGCTCCGGCAGAGGCTGGACCGTGATCTTGAGGTTCAGGGGTGCATTCTGGGTGGATTCCCTTGGCATGGGTGGTCGGCCCTCAGCAACTGCAGCCCTCATTTGGCTCTGTCACCCTGGGCTGCCAGGACACAAGTCTTTCCATGCTTTTCCCAGTGCTTGACTTGGCACTCCCTGCAGGCAGGTGGGTATTGAGGATGGCAATGCATGTGGGGGATGTGGGAGTAGGGCTTAGAGGTCCAAGGTTCTAGGATACCCTCACCTGCAGCAATACCACTCATTCTGGCATCGTGAGCAGCGCTTAGAAGCCTCTGCACTGCAGTAAGCACAGCGGGGCCGCTCTGGAGCCACTGCCTCTAGCACATCCAGCCTGTAGGTCTCAGCCCACCTGGGGGAAAGTCAGGAAGGTCTGACTGGCCCTGGAAGGTGGGGGCACCCCACCCACATCCATGCCTCCTGCATCCCCTCCACCCTCCCTGCCATTTCCACAGGCCTTACCTTCGCGCCTGCAGCCGCAGGTCCTGCTCTGAGGGGCTGAACACATGCTGGAGCTGGTGCTTGGCAATTGCCTGCCACTTGCCTCTGTTTTCTCGCTCCAGCCGCTCCCAGATTTCTGGGATCTAGGAGAGAGAAGTGGAGAGTGGCAGGAAGGTGCTGGTAAAGTGGGACAGTGGTCCTGAGCAGCTAACTTTCCAGTGCCTACCTGTTCCAACACCAGGTCCTTCTTAGGAGGCTGGGTTTCAGTTAGGGTCAGATGGGCCAGGAAACTCTGCAAGTGGGCCAGGTTGGGCAGCTGGTCCAGCAGTGTGTCTGTGAGGAAGGCCCGAAGCTGCAAGGGTGTCCAGTGGAGGCCAGTGTGATGCAGGTGCTGGCCAGGGGGCCAAGGAAAAGGAAGGGGCTGGGTTGGGCTGAGAATGCCTGTGGGGGCCCATGTCCCACTAGCTGGTGTGTCACCTGAGGCCCAAGGACTGAAAAGAGCACTGGGGTTGAGGTGGGTGGGCAAAGATAAACAGCAGGGACGCAGTCGGGGTAGGATGGGGAGGGCGGTACTGGGGCTGTGGGGGCTGGTGCGGAGGGAGTCTGACCTTGAGTAGCCGTCCCTTGGCAAAACTTGTGAGGCAGTAGCGCGCCTGAGCCTCAGGGCTTAGCAGCAGGTTGTACGGGGCGATCCACACTTGCCCGTCCAACTTGCTCAGCTTTTGCTGCTCTGAGGGGGCCACAGTATGCCAACGGCTGCCCTCGAACTGCTGCAGCTTGCCTGGGGAGAGGAACCAGCACACTGGGTGCAGACGTTGAATTCTCTTCAAGTGAGCCAGCTGTGGGGGCTGGGAGACTGACCACTGCCTGGGAATGGGAGAACCTGGGCTGCAGGACTTGCCCAGGCTATAGGGCTGCTGACCCCAGAGCAGGGTGAGCCTCAGTAGTGGACACATGGGCCTGGCCTGCTGCAGAGCTCAGGTCTAGGCCAACCTTGGCTGAGGCATCCTGGTATCCTCAGTGGGCTTGGGGACAGGGTTTGTCTTCGTGTGTGCAAGCTGCCCCCCTCTATCAAAAAGATACCCTGAAGCAGTAGCCTGGGGCTTAGGCTGGTGGGGGAGGACCCTACCTCCTTCCCGCCGGCTCCAGGGACTATGCTCCAGCAGTTCCACCAGGAGGCAGGGCAGGTTGTGTGTGCTAAGCATACGGCTCAAGGTGCTGAGAGAGAGGCTAGGGGCAGGGACGTTGTGAAGGAGGTGAGTAGAGGCAGGCTACAGGCCCGGTCTTCCAGCCCTCCACAGTAGGCCCAGGCCCAGTCGGACTGCTCACCTGTCCACACAGTCTGTGATGTAGCGTAGTACTGAGAGGGCCTTCAGTGCAATCTCAAATTCCATCAGCTCTGCCTGCTTCTGCAGCTCCTGGGAGGTCACACAGTGTTCACGCTGGGCCACCCTCACCTGCGCAGGCCTTGGGGAACCCAGACCTAGGCTTTCACAACCCTAGGTAACCTCAACCCACCTGCATGGGGTTGCTGTCCTGGGATCCCTCCCCCTCAGGGGGGCCACCACAGCCACTCTGGGCCACCAGCAGGGTCAGTTTGCGGTGGCAATAGTCTACCAAGTCCAAGACAGTGTCTTCTGCTGACTCACACACCTCCTGGGAAAAGGAGGAGGGAAACTTTCTGTGTCTGATGCCTTCCCCACACAGACACAATCTCCCTTCCTGCCAGGCCCTGACCCGGAACTGTGGCCCATGGGCAGAGATAGTCCCTCACCTTGTGGAAGAACACTGTCTCCAAGAGGTTGATGATGGAGGCCTCGTGGTGCACCTGTCAGATAAAGAGAAGGACAGGGCCTGAGGAAGGGATAGGGGCTACCAGCTCTCCTCCCCGGTCCAGAGCCCTCTGAAGGAGTGAGAAGAGGTATGAACCAGGGGCCCAGCTCACCACCATGTAGATGGGGAAGGTGTTCTGGGGCTTGAAGTCCTCCACCCTGCAGAACACAGGGAACACCTTCTGCTTCCACATCTCCACTGCGATCAGCTCCTCCACCAGTGTTGGGACCTTTGAAGGGTAGGGTAAAGGACAGGGATGAGATGGGCCTACCTTTGCCTGGCAACCCTCCCATCCCCGGCTCAGCTCAACCCTGATATCCCCAAACACTGCTGGGCCCCTAAACTATTCCAGACCCATGAGTATCCTTCCTGACTTCTCTCTTGCACCTTGGACCTTCATTACCAGCTGCTCCCAACACCTCTGTGGATGTCCCTCATGCTTATGTGACTGGCTCCTGCCCAGTTCCCAGACTGCCTTGCCCTGCCTGCACCTGCACCCTTATCCTCTGCCCGCCCATTCAGGCATCCCTTTCAAGCCAGCCCTTCTCCTCATGCCCTCCCTCTAGTCCCTGTCTGTGGTCCTCCAAAGCTCTTGTGTGCCTTGGCCTCACTCCTACTCAGGACCCTTCACAGTGCCCTGTTCCTATCCTATCCCCTAGTATGAGTTCCATCTTTCTTTTGCAAAGGACCTTTCTTTTTTTTTTTTTTTTTTTTGAGACGGAGTTTCACTCTTGTCACCCAGGCTGGAGTGCAGTGGCATGATCTTGGCTCTCTGTAACCTCTGCCTCCCAGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGATTACAGGTGTGCACCACCATGCTCTGCAAATTTTTGTATTTTTAGTAGAGGTGGGGTTTCACCAT
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Task1_train_7053
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A variant on Chromosome 3 in gene ZMYND10 (zinc finger MYND-type containing 10) has been observed. Is this a neutral mutation, or does it result in a disease? If so, which one?
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Pathogenic; Primary ciliary dyskinesia
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GGGAAAAGGAGGAGGGAAACTTTCTGTGTCTGATGCCTTCCCCACACAGACACAATCTCCCTTCCTGCCAGGCCCTGACCCGGAACTGTGGCCCATGGGCAGAGATAGTCCCTCACCTTGTGGAAGAACACTGTCTCCAAGAGGTTGATGATGGAGGCCTCGTGGTGCACCTGTCAGATAAAGAGAAGGACAGGGCCTGAGGAAGGGATAGGGGCTACCAGCTCTCCTCCCCGGTCCAGAGCCCTCTGAAGGAGTGAGAAGAGGTATGAACCAGGGGCCCAGCTCACCACCATGTAGATGGGGAAGGTGTTCTGGGGCTTGAAGTCCTCCACCCTGCAGAACACAGGGAACACCTTCTGCTTCCACATCTCCACTGCGATCAGCTCCTCCACCAGTGTTGGGACCTTTGAAGGGTAGGGTAAAGGACAGGGATGAGATGGGCCTACCTTTGCCTGGCAACCCTCCCATCCCCGGCTCAGCTCAACCCTGATATCCCCAAACACTGCTGGGCCCCTAAACTATTCCAGACCCATGAGTATCCTTCCTGACTTCTCTCTTGCACCTTGGACCTTCATTACCAGCTGCTCCCAACACCTCTGTGGATGTCCCTCATGCTTATGTGACTGGCTCCTGCCCAGTTCCCAGACTGCCTTGCCCTGCCTGCACCTGCACCCTTATCCTCTGCCCGCCCATTCAGGCATCCCTTTCAAGCCAGCCCTTCTCCTCATGCCCTCCCTCTAGTCCCTGTCTGTGGTCCTCCAAAGCTCTTGTGTGCCTTGGCCTCACTCCTACTCAGGACCCTTCACAGTGCCCTGTTCCTATCCTATCCCCTAGTATGAGTTCCATCTTTCTTTTGCAAAGGACCTTTCTTTTTTTTTTTTTTTTTTTTGAGACGGAGTTTCACTCTTGTCACCCAGGCTGGAGTGCAGTGGCATGATCTTGGCTCTCTGTAACCTCTGCCTCCCAGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGATTACAGGTGTGCACCACCATGCTCTGCAAATTTTTGTATTTTTAGTAGAGGTGGGGTTTCACCATGTTGGCCAGGCTGGCCTTGAACTCCTGACCTCAGATGATCCACCCGTCTTGGCCTCCCAAAATGCTGGGATAACAGGCATGAGCTACCATGCCCGGCTTTTTTTTTTTTTTTTTTGGTCAATTGATATCTCAGGTCATCTGCTGGTGACACTCCCTGGTCCATGTTCCAGCCAGGCATCTCCCTGGTTTCTAACTTCCCCCTTTCATGTTGGGAAGGCTGCTTCCTTCCATGCCGAAGTTCCACCTCCAGTTAGGTTATCTCCCCTCCCTCCCGCCCTCCCCAACCCCTCCCCACCCCTTCCCCACCACCAGCCTTACAGTCAATTCACAGATGCCTTTAGCATTTGGGCCTTCCCCTTGAAGCCTAAGCTGTTCTAGGACCTACAGCTTTCTCCCTAATCAACTCATGCCCTGCACCCAGCCTGGTGTGCCAGAGTCCTGTCCAATAGGGATACAAAATGAAACATGTAACACATTCCTCTTTGTCCTTCAGGGAGAACAGGTGTACCAGGCCAGAGGGGAAGGGCACACAGGGGACTCCGGAGGGGTAGAGTAGGTGAGGTATGGGGGAAGGCAGGAACCCTGCCTGTGACCTCGGGGTACCTTCCCATGGGTGACCAGCAGCTCCTGAATGGGCTCGCCCTGGCTGACTGTGGCATCGAGGATGGCTTGCATGTTCAGCTTCTCCAGGTTCTCATGCTGCTGGTTCCACCTGCCTCAGAGGGTAAGTGCATGTGCGTCCACGTGTGTGCATTAGGAGTGGGGATGGGGGCTGGATCCTACTGAAGCCTAACCTGATCCTGAGGGGACACAGGGGGCTCAGGAGCAGTAATACTCCTGTCTCGGAACGCTCTGCTCCCCCATTTGGGAGCCCCTCCACACTGGGCAGCCCCTCCCCCGAGTCAGGCCCCAGCTCCCCGACTCAAGGACAATGACTCCGGGACTCCGCCTGACCCGGGTGCCTCACCCTTCGGAGCCCATCTCGCGTAGCGGGAAGCTGCGCAGACCCCGCACCAGCACTTCAGCTTCCCCGGGCAGCAGCAGTTCCAGGTCTCCCATATCGAGGCCGGGGTCCGGCGGATCCTGGGCAGCAGCCGGGGTGGGGATGCTGTCACATTCGGGGACGACGGACCCCGACGGTGCCAAAGTCTGGGACAGGACAGTTGCGGGACGGTTGGGGAGCGTCAGTTCTCGCAGCCATGGAAACGGGTTAGCCGCGCCTGCGCAGTGCGGCCTGGGCCCCGCCCCTGGAGGTGGCTCGCGCCTAAATCCGGGCGGGTCTCTAGCCCGCCTCGCCTACGCGACTGCCAATCGCCATAGTATTTGGATTCCCAGCGCTTTCTCGGGCTGTGGCCCACGAGTCTCTCCTGAGCTCCAGATCCTTGTGGTCTGGACTCTGTCCTCAGACGCCAAGTCCGCCTGCACAGGGATGGGGGTAACCCCGACCCCAACAGCCCCTCCTGCGGCTGTGGCATCTTGACCTACCCGCTGCTCTTCCTCCTCCTTATGGCTTCTTGGTTCCTCTATTTCTCGCGTCCCGGCTCCACTAGTTGGCTCCTGAAATACTGCCAGGGCGCACGACTTCTCTCCATCCTCCCTATGTCCAGACTGTCATCACCTGTCATGGGTGAACTGCGGCAGCCTTTTCTGTAGACCTACTTCCACGCTTGATCCTCATGGACAGCCCGGAGCCTTAAAAGTGTATATCAGGCCGGGCGCGGTGGCTGACACCTGTAATCTCAGCACTTTGGGAGGCCGAGGCAGGCGGATCACTTGAGGTCAGGAGTTTGAGACCAGCCTGGGCAACATGGTGAAACCCTGTCTCTACTAAAAGTACAAAAATTAGACAGGTGTGGTAGCACACACCTGTAGTCCCAGCTACATGGGAGACTGAGGCAGGAGAATCGCTTGAGCACAGGAGGTGGAGTTTGCAGTGAGGCAAGATTGCACCACCGCACTCCAGCCTGGACAACAAAGGGAGACCGTCTCAAAAAAAAAAAAAAAGCATATAGACATTACTCCCTTGCGTGAGAGGGGCTCTGTGGCTACTTCTGGCCCTCAAAATGTTAGGTGGGATGCCGCTTACTAGCAGCTCTGCAAGATCTACTTCTTGTCCTCTCCTGTACCTCGGGACTTGGATTCTTTCCTCTCCTCCTTGCTTCCCTGAACCTCCCTCATACATTCCAAAGAGGTTTTTGCCTCAGAGTTTTGCACTTTGCCTGGAATACTTTTCCTTCAGGGCTCAGTTTACACCTCAGCATGGCCTTTCTTGGCCATTTAATCCAGAGCAGTCCCTGCCTCCAACCCAACTCACTCTTGATCACATCTTTTTTTGAAATTGAGTCTCCTGTCACCTAGGCTGGAGTGCAGTGGCATGATCTTGGCTCACTGCAACCTCTGCCTCCCAGGTTCAAGTGATTCTCCTGCCTCAGCTTCCTGAGTAGCTGGGATTACAGGTGTGCACCACCACACCTGGCTAATTTTTTGTATTTTTTTTTAGTGGAGATGGGGTTTCACTATGTTGGCCAGGCTGTTTTTGAACATCTGACCTCAGGTGATCTGCCCGCTTCAGCCTCCCAAAGTGCTGGGATTATAGGCATGAGCCACCGCGCCTGGCTACATCTGCTTCTTTCTAGGTTTATTTATTATTATTATTATTATTGAGATGGGGTCTTGCTCTGTCACCCAGGCTGGGGTGCAGTGATGGGATCACAGCTAAATGTAGCCTCCAACTCGTGGCCTCAAATGATCCCCCCACTTCAGCCTCCTGAGTAGCTGGGGCTACAGGTGAGTCACCGCATCAGGACGATTTTTTTTTTTTTTTTTTTTTTTTTTTGTAATTAACCGGCACTTTTATTTGTCGATTGTCGGTCCTGCCCACCAGATGGCGATCTAGCCCACGGCTCGTGGCTATTTCATTCACTGCTGGGTCTCCCACGGCTGGCCCAGAAACAGCACTCAATAAAGGCTGTTTGAAATGGATGTCTTTATTTACAGAACTAAGAGTCAACCTCTAGACAGT
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GGGAAAAGGAGGAGGGAAACTTTCTGTGTCTGATGCCTTCCCCACACAGACACAATCTCCCTTCCTGCCAGGCCCTGACCCGGAACTGTGGCCCATGGGCAGAGATAGTCCCTCACCTTGTGGAAGAACACTGTCTCCAAGAGGTTGATGATGGAGGCCTCGTGGTGCACCTGTCAGATAAAGAGAAGGACAGGGCCTGAGGAAGGGATAGGGGCTACCAGCTCTCCTCCCCGGTCCAGAGCCCTCTGAAGGAGTGAGAAGAGGTATGAACCAGGGGCCCAGCTCACCACCATGTAGATGGGGAAGGTGTTCTGGGGCTTGAAGTCCTCCACCCTGCAGAACACAGGGAACACCTTCTGCTTCCACATCTCCACTGCGATCAGCTCCTCCACCAGTGTTGGGACCTTTGAAGGGTAGGGTAAAGGACAGGGATGAGATGGGCCTACCTTTGCCTGGCAACCCTCCCATCCCCGGCTCAGCTCAACCCTGATATCCCCAAACACTGCTGGGCCCCTAAACTATTCCAGACCCATGAGTATCCTTCCTGACTTCTCTCTTGCACCTTGGACCTTCATTACCAGCTGCTCCCAACACCTCTGTGGATGTCCCTCATGCTTATGTGACTGGCTCCTGCCCAGTTCCCAGACTGCCTTGCCCTGCCTGCACCTGCACCCTTATCCTCTGCCCGCCCATTCAGGCATCCCTTTCAAGCCAGCCCTTCTCCTCATGCCCTCCCTCTAGTCCCTGTCTGTGGTCCTCCAAAGCTCTTGTGTGCCTTGGCCTCACTCCTACTCAGGACCCTTCACAGTGCCCTGTTCCTATCCTATCCCCTAGTATGAGTTCCATCTTTCTTTTGCAAAGGACCTTTCTTTTTTTTTTTTTTTTTTTTGAGACGGAGTTTCACTCTTGTCACCCAGGCTGGAGTGCAGTGGCATGATCTTGGCTCTCTGTAACCTCTGCCTCCCAGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGATTACAGGTGTGCACCACCATGCTCTGCAAATTTTTGTATTTTTAGTAGAGGTGGGGTTTCACCATGTTGGCCAGGCTGGCCTTGAACTCCTGACCTCAGATGATCCACCCGTCTTGGCCTCCCAAAATGCTGGGATAACAGGCATGAGCTACCATGCCCGGCTTTTTTTTTTTTTTTTTTGGTCAATTGATATCTCAGGTCATCTGCTGGTGACACTCCCTGGTCCATGTTCCAGCCAGGCATCTCCCTGGTTTCTAACTTCCCCCTTTCATGTTGGGAAGGCTGCTTCCTTCCATGCCGAAGTTCCACCTCCAGTTAGGTTATCTCCCCTCCCTCCCGCCCTCCCCAACCCCTCCCCACCCCTTCCCCACCACCAGCCTTACAGTCAATTCACAGATGCCTTTAGCATTTGGGCCTTCCCCTTGAAGCCTAAGCTGTTCTAGGACCTACAGCTTTCTCCCTAATCAACTCATGCCCTGCACCCAGCCTGGTGTGCCAGAGTCCTGTCCAATAGGGATACAAAATGAAACATGTAACACATTCCTCTTTGTCCTTCAGGGAGAACAGGTGTACCAGGCCAGAGGGGAAGGGCACACAGGGGACTCCGGAGGGGTAGAGTAGGTGAGGTATGGGGGAAGGCAGGAACCCTGCCTGTGACCTCGGGGTACCTTCCCATGGGTGACCAGCAGCTCCTGAATGGGCTCGCCCTGGCTGACTGTGGCATCGAGGATGGCTTGCATGTTCAGCTTCTCCAGGTTCTCATGCTGCTGGTTCCACCTGCCTCAGAGGGTAAGTGCATGTGCGTCCACGTGTGTGCATTAGGAGTGGGGATGGGGGCTGGATCCTACTGAAGCCTAACCTGATCCTGAGGGGACACAGGGGGCTCAGGAGCAGTAATACTCCTGTCTCGGAACGCTCTGCTCCCCCATTTGGGAGCCCCTCCACACTGGGCAGCCCCTCCCCCGAGTCAGGCCCCAGCTCCCCGACTCAAGGACAATGACTCCGGGACTCCGCCTGACCCGGGTGCCTCACCCTTCGGGGCCCATCTCGCGTAGCGGGAAGCTGCGCAGACCCCGCACCAGCACTTCAGCTTCCCCGGGCAGCAGCAGTTCCAGGTCTCCCATATCGAGGCCGGGGTCCGGCGGATCCTGGGCAGCAGCCGGGGTGGGGATGCTGTCACATTCGGGGACGACGGACCCCGACGGTGCCAAAGTCTGGGACAGGACAGTTGCGGGACGGTTGGGGAGCGTCAGTTCTCGCAGCCATGGAAACGGGTTAGCCGCGCCTGCGCAGTGCGGCCTGGGCCCCGCCCCTGGAGGTGGCTCGCGCCTAAATCCGGGCGGGTCTCTAGCCCGCCTCGCCTACGCGACTGCCAATCGCCATAGTATTTGGATTCCCAGCGCTTTCTCGGGCTGTGGCCCACGAGTCTCTCCTGAGCTCCAGATCCTTGTGGTCTGGACTCTGTCCTCAGACGCCAAGTCCGCCTGCACAGGGATGGGGGTAACCCCGACCCCAACAGCCCCTCCTGCGGCTGTGGCATCTTGACCTACCCGCTGCTCTTCCTCCTCCTTATGGCTTCTTGGTTCCTCTATTTCTCGCGTCCCGGCTCCACTAGTTGGCTCCTGAAATACTGCCAGGGCGCACGACTTCTCTCCATCCTCCCTATGTCCAGACTGTCATCACCTGTCATGGGTGAACTGCGGCAGCCTTTTCTGTAGACCTACTTCCACGCTTGATCCTCATGGACAGCCCGGAGCCTTAAAAGTGTATATCAGGCCGGGCGCGGTGGCTGACACCTGTAATCTCAGCACTTTGGGAGGCCGAGGCAGGCGGATCACTTGAGGTCAGGAGTTTGAGACCAGCCTGGGCAACATGGTGAAACCCTGTCTCTACTAAAAGTACAAAAATTAGACAGGTGTGGTAGCACACACCTGTAGTCCCAGCTACATGGGAGACTGAGGCAGGAGAATCGCTTGAGCACAGGAGGTGGAGTTTGCAGTGAGGCAAGATTGCACCACCGCACTCCAGCCTGGACAACAAAGGGAGACCGTCTCAAAAAAAAAAAAAAAGCATATAGACATTACTCCCTTGCGTGAGAGGGGCTCTGTGGCTACTTCTGGCCCTCAAAATGTTAGGTGGGATGCCGCTTACTAGCAGCTCTGCAAGATCTACTTCTTGTCCTCTCCTGTACCTCGGGACTTGGATTCTTTCCTCTCCTCCTTGCTTCCCTGAACCTCCCTCATACATTCCAAAGAGGTTTTTGCCTCAGAGTTTTGCACTTTGCCTGGAATACTTTTCCTTCAGGGCTCAGTTTACACCTCAGCATGGCCTTTCTTGGCCATTTAATCCAGAGCAGTCCCTGCCTCCAACCCAACTCACTCTTGATCACATCTTTTTTTGAAATTGAGTCTCCTGTCACCTAGGCTGGAGTGCAGTGGCATGATCTTGGCTCACTGCAACCTCTGCCTCCCAGGTTCAAGTGATTCTCCTGCCTCAGCTTCCTGAGTAGCTGGGATTACAGGTGTGCACCACCACACCTGGCTAATTTTTTGTATTTTTTTTTAGTGGAGATGGGGTTTCACTATGTTGGCCAGGCTGTTTTTGAACATCTGACCTCAGGTGATCTGCCCGCTTCAGCCTCCCAAAGTGCTGGGATTATAGGCATGAGCCACCGCGCCTGGCTACATCTGCTTCTTTCTAGGTTTATTTATTATTATTATTATTATTGAGATGGGGTCTTGCTCTGTCACCCAGGCTGGGGTGCAGTGATGGGATCACAGCTAAATGTAGCCTCCAACTCGTGGCCTCAAATGATCCCCCCACTTCAGCCTCCTGAGTAGCTGGGGCTACAGGTGAGTCACCGCATCAGGACGATTTTTTTTTTTTTTTTTTTTTTTTTTTGTAATTAACCGGCACTTTTATTTGTCGATTGTCGGTCCTGCCCACCAGATGGCGATCTAGCCCACGGCTCGTGGCTATTTCATTCACTGCTGGGTCTCCCACGGCTGGCCCAGAAACAGCACTCAATAAAGGCTGTTTGAAATGGATGTCTTTATTTACAGAACTAAGAGTCAACCTCTAGACAGT
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Task1_train_7054
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With a mutation on Chromosome 3 in gene ZMYND10 (zinc finger MYND-type containing 10), classify this variant as benign or pathogenic. Include the disease if it's pathogenic.
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Pathogenic; Primary ciliary dyskinesia 22
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TCCCCACACAGACACAATCTCCCTTCCTGCCAGGCCCTGACCCGGAACTGTGGCCCATGGGCAGAGATAGTCCCTCACCTTGTGGAAGAACACTGTCTCCAAGAGGTTGATGATGGAGGCCTCGTGGTGCACCTGTCAGATAAAGAGAAGGACAGGGCCTGAGGAAGGGATAGGGGCTACCAGCTCTCCTCCCCGGTCCAGAGCCCTCTGAAGGAGTGAGAAGAGGTATGAACCAGGGGCCCAGCTCACCACCATGTAGATGGGGAAGGTGTTCTGGGGCTTGAAGTCCTCCACCCTGCAGAACACAGGGAACACCTTCTGCTTCCACATCTCCACTGCGATCAGCTCCTCCACCAGTGTTGGGACCTTTGAAGGGTAGGGTAAAGGACAGGGATGAGATGGGCCTACCTTTGCCTGGCAACCCTCCCATCCCCGGCTCAGCTCAACCCTGATATCCCCAAACACTGCTGGGCCCCTAAACTATTCCAGACCCATGAGTATCCTTCCTGACTTCTCTCTTGCACCTTGGACCTTCATTACCAGCTGCTCCCAACACCTCTGTGGATGTCCCTCATGCTTATGTGACTGGCTCCTGCCCAGTTCCCAGACTGCCTTGCCCTGCCTGCACCTGCACCCTTATCCTCTGCCCGCCCATTCAGGCATCCCTTTCAAGCCAGCCCTTCTCCTCATGCCCTCCCTCTAGTCCCTGTCTGTGGTCCTCCAAAGCTCTTGTGTGCCTTGGCCTCACTCCTACTCAGGACCCTTCACAGTGCCCTGTTCCTATCCTATCCCCTAGTATGAGTTCCATCTTTCTTTTGCAAAGGACCTTTCTTTTTTTTTTTTTTTTTTTTGAGACGGAGTTTCACTCTTGTCACCCAGGCTGGAGTGCAGTGGCATGATCTTGGCTCTCTGTAACCTCTGCCTCCCAGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGATTACAGGTGTGCACCACCATGCTCTGCAAATTTTTGTATTTTTAGTAGAGGTGGGGTTTCACCATGTTGGCCAGGCTGGCCTTGAACTCCTGACCTCAGATGATCCACCCGTCTTGGCCTCCCAAAATGCTGGGATAACAGGCATGAGCTACCATGCCCGGCTTTTTTTTTTTTTTTTTTGGTCAATTGATATCTCAGGTCATCTGCTGGTGACACTCCCTGGTCCATGTTCCAGCCAGGCATCTCCCTGGTTTCTAACTTCCCCCTTTCATGTTGGGAAGGCTGCTTCCTTCCATGCCGAAGTTCCACCTCCAGTTAGGTTATCTCCCCTCCCTCCCGCCCTCCCCAACCCCTCCCCACCCCTTCCCCACCACCAGCCTTACAGTCAATTCACAGATGCCTTTAGCATTTGGGCCTTCCCCTTGAAGCCTAAGCTGTTCTAGGACCTACAGCTTTCTCCCTAATCAACTCATGCCCTGCACCCAGCCTGGTGTGCCAGAGTCCTGTCCAATAGGGATACAAAATGAAACATGTAACACATTCCTCTTTGTCCTTCAGGGAGAACAGGTGTACCAGGCCAGAGGGGAAGGGCACACAGGGGACTCCGGAGGGGTAGAGTAGGTGAGGTATGGGGGAAGGCAGGAACCCTGCCTGTGACCTCGGGGTACCTTCCCATGGGTGACCAGCAGCTCCTGAATGGGCTCGCCCTGGCTGACTGTGGCATCGAGGATGGCTTGCATGTTCAGCTTCTCCAGGTTCTCATGCTGCTGGTTCCACCTGCCTCAGAGGGTAAGTGCATGTGCGTCCACGTGTGTGCATTAGGAGTGGGGATGGGGGCTGGATCCTACTGAAGCCTAACCTGATCCTGAGGGGACACAGGGGGCTCAGGAGCAGTAATACTCCTGTCTCGGAACGCTCTGCTCCCCCATTTGGGAGCCCCTCCACACTGGGCAGCCCCTCCCCCGAGTCAGGCCCCAGCTCCCCGACTCAAGGACAATGACTCCGGGACTCCGCCTGACCCGGGTGCCTCACCCTTCGGAGCCCATCTCGCGTAGCGGGAAGCTGCGCAGACCCCGCACCAGCACTTCAGCTTCCCCGGGCAGCAGCAGTTCCAGGTCTCCCATATCGAGGCCGGGGTCCGGCGGATCCTGGGCAGCAGCCGGGGTGGGGATGCTGTCACATTCGGGGACGACGGACCCCGACGGTGCCAAAGTCTGGGACAGGACAGTTGCGGGACGGTTGGGGAGCGTCAGTTCTCGCAGCCATGGAAACGGGTTAGCCGCGCCTGCGCAGTGCGGCCTGGGCCCCGCCCCTGGAGGTGGCTCGCGCCTAAATCCGGGCGGGTCTCTAGCCCGCCTCGCCTACGCGACTGCCAATCGCCATAGTATTTGGATTCCCAGCGCTTTCTCGGGCTGTGGCCCACGAGTCTCTCCTGAGCTCCAGATCCTTGTGGTCTGGACTCTGTCCTCAGACGCCAAGTCCGCCTGCACAGGGATGGGGGTAACCCCGACCCCAACAGCCCCTCCTGCGGCTGTGGCATCTTGACCTACCCGCTGCTCTTCCTCCTCCTTATGGCTTCTTGGTTCCTCTATTTCTCGCGTCCCGGCTCCACTAGTTGGCTCCTGAAATACTGCCAGGGCGCACGACTTCTCTCCATCCTCCCTATGTCCAGACTGTCATCACCTGTCATGGGTGAACTGCGGCAGCCTTTTCTGTAGACCTACTTCCACGCTTGATCCTCATGGACAGCCCGGAGCCTTAAAAGTGTATATCAGGCCGGGCGCGGTGGCTGACACCTGTAATCTCAGCACTTTGGGAGGCCGAGGCAGGCGGATCACTTGAGGTCAGGAGTTTGAGACCAGCCTGGGCAACATGGTGAAACCCTGTCTCTACTAAAAGTACAAAAATTAGACAGGTGTGGTAGCACACACCTGTAGTCCCAGCTACATGGGAGACTGAGGCAGGAGAATCGCTTGAGCACAGGAGGTGGAGTTTGCAGTGAGGCAAGATTGCACCACCGCACTCCAGCCTGGACAACAAAGGGAGACCGTCTCAAAAAAAAAAAAAAAGCATATAGACATTACTCCCTTGCGTGAGAGGGGCTCTGTGGCTACTTCTGGCCCTCAAAATGTTAGGTGGGATGCCGCTTACTAGCAGCTCTGCAAGATCTACTTCTTGTCCTCTCCTGTACCTCGGGACTTGGATTCTTTCCTCTCCTCCTTGCTTCCCTGAACCTCCCTCATACATTCCAAAGAGGTTTTTGCCTCAGAGTTTTGCACTTTGCCTGGAATACTTTTCCTTCAGGGCTCAGTTTACACCTCAGCATGGCCTTTCTTGGCCATTTAATCCAGAGCAGTCCCTGCCTCCAACCCAACTCACTCTTGATCACATCTTTTTTTGAAATTGAGTCTCCTGTCACCTAGGCTGGAGTGCAGTGGCATGATCTTGGCTCACTGCAACCTCTGCCTCCCAGGTTCAAGTGATTCTCCTGCCTCAGCTTCCTGAGTAGCTGGGATTACAGGTGTGCACCACCACACCTGGCTAATTTTTTGTATTTTTTTTTAGTGGAGATGGGGTTTCACTATGTTGGCCAGGCTGTTTTTGAACATCTGACCTCAGGTGATCTGCCCGCTTCAGCCTCCCAAAGTGCTGGGATTATAGGCATGAGCCACCGCGCCTGGCTACATCTGCTTCTTTCTAGGTTTATTTATTATTATTATTATTATTGAGATGGGGTCTTGCTCTGTCACCCAGGCTGGGGTGCAGTGATGGGATCACAGCTAAATGTAGCCTCCAACTCGTGGCCTCAAATGATCCCCCCACTTCAGCCTCCTGAGTAGCTGGGGCTACAGGTGAGTCACCGCATCAGGACGATTTTTTTTTTTTTTTTTTTTTTTTTTTGTAATTAACCGGCACTTTTATTTGTCGATTGTCGGTCCTGCCCACCAGATGGCGATCTAGCCCACGGCTCGTGGCTATTTCATTCACTGCTGGGTCTCCCACGGCTGGCCCAGAAACAGCACTCAATAAAGGCTGTTTGAAATGGATGTCTTTATTTACAGAACTAAGAGTCAACCTCTAGACAGTATGACAAGCCTCCTAGTAGGAGGGACTACCCACAGCAA
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TCCCCACACAGACACAATCTCCCTTCCTGCCAGGCCCTGACCCGGAACTGTGGCCCATGGGCAGAGATAGTCCCTCACCTTGTGGAAGAACACTGTCTCCAAGAGGTTGATGATGGAGGCCTCGTGGTGCACCTGTCAGATAAAGAGAAGGACAGGGCCTGAGGAAGGGATAGGGGCTACCAGCTCTCCTCCCCGGTCCAGAGCCCTCTGAAGGAGTGAGAAGAGGTATGAACCAGGGGCCCAGCTCACCACCATGTAGATGGGGAAGGTGTTCTGGGGCTTGAAGTCCTCCACCCTGCAGAACACAGGGAACACCTTCTGCTTCCACATCTCCACTGCGATCAGCTCCTCCACCAGTGTTGGGACCTTTGAAGGGTAGGGTAAAGGACAGGGATGAGATGGGCCTACCTTTGCCTGGCAACCCTCCCATCCCCGGCTCAGCTCAACCCTGATATCCCCAAACACTGCTGGGCCCCTAAACTATTCCAGACCCATGAGTATCCTTCCTGACTTCTCTCTTGCACCTTGGACCTTCATTACCAGCTGCTCCCAACACCTCTGTGGATGTCCCTCATGCTTATGTGACTGGCTCCTGCCCAGTTCCCAGACTGCCTTGCCCTGCCTGCACCTGCACCCTTATCCTCTGCCCGCCCATTCAGGCATCCCTTTCAAGCCAGCCCTTCTCCTCATGCCCTCCCTCTAGTCCCTGTCTGTGGTCCTCCAAAGCTCTTGTGTGCCTTGGCCTCACTCCTACTCAGGACCCTTCACAGTGCCCTGTTCCTATCCTATCCCCTAGTATGAGTTCCATCTTTCTTTTGCAAAGGACCTTTCTTTTTTTTTTTTTTTTTTTTGAGACGGAGTTTCACTCTTGTCACCCAGGCTGGAGTGCAGTGGCATGATCTTGGCTCTCTGTAACCTCTGCCTCCCAGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGATTACAGGTGTGCACCACCATGCTCTGCAAATTTTTGTATTTTTAGTAGAGGTGGGGTTTCACCATGTTGGCCAGGCTGGCCTTGAACTCCTGACCTCAGATGATCCACCCGTCTTGGCCTCCCAAAATGCTGGGATAACAGGCATGAGCTACCATGCCCGGCTTTTTTTTTTTTTTTTTTGGTCAATTGATATCTCAGGTCATCTGCTGGTGACACTCCCTGGTCCATGTTCCAGCCAGGCATCTCCCTGGTTTCTAACTTCCCCCTTTCATGTTGGGAAGGCTGCTTCCTTCCATGCCGAAGTTCCACCTCCAGTTAGGTTATCTCCCCTCCCTCCCGCCCTCCCCAACCCCTCCCCACCCCTTCCCCACCACCAGCCTTACAGTCAATTCACAGATGCCTTTAGCATTTGGGCCTTCCCCTTGAAGCCTAAGCTGTTCTAGGACCTACAGCTTTCTCCCTAATCAACTCATGCCCTGCACCCAGCCTGGTGTGCCAGAGTCCTGTCCAATAGGGATACAAAATGAAACATGTAACACATTCCTCTTTGTCCTTCAGGGAGAACAGGTGTACCAGGCCAGAGGGGAAGGGCACACAGGGGACTCCGGAGGGGTAGAGTAGGTGAGGTATGGGGGAAGGCAGGAACCCTGCCTGTGACCTCGGGGTACCTTCCCATGGGTGACCAGCAGCTCCTGAATGGGCTCGCCCTGGCTGACTGTGGCATCGAGGATGGCTTGCATGTTCAGCTTCTCCAGGTTCTCATGCTGCTGGTTCCACCTGCCTCAGAGGGTAAGTGCATGTGCGTCCACGTGTGTGCATTAGGAGTGGGGATGGGGGCTGGATCCTACTGAAGCCTAACCTGATCCTGAGGGGACACAGGGGGCTCAGGAGCAGTAATACTCCTGTCTCGGAACGCTCTGCTCCCCCATTTGGGAGCCCCTCCACACTGGGCAGCCCCTCCCCCGAGTCAGGCCCCAGCTCCCCGACTCAAGGACAATGACTCCGGGACTCCGCCTGACCCGGGTGCCTCACCCTTCGGAGCCCATCTCGCGTAGCGGGAAGCTGCGCAGACCCCGCCCCAGCACTTCAGCTTCCCCGGGCAGCAGCAGTTCCAGGTCTCCCATATCGAGGCCGGGGTCCGGCGGATCCTGGGCAGCAGCCGGGGTGGGGATGCTGTCACATTCGGGGACGACGGACCCCGACGGTGCCAAAGTCTGGGACAGGACAGTTGCGGGACGGTTGGGGAGCGTCAGTTCTCGCAGCCATGGAAACGGGTTAGCCGCGCCTGCGCAGTGCGGCCTGGGCCCCGCCCCTGGAGGTGGCTCGCGCCTAAATCCGGGCGGGTCTCTAGCCCGCCTCGCCTACGCGACTGCCAATCGCCATAGTATTTGGATTCCCAGCGCTTTCTCGGGCTGTGGCCCACGAGTCTCTCCTGAGCTCCAGATCCTTGTGGTCTGGACTCTGTCCTCAGACGCCAAGTCCGCCTGCACAGGGATGGGGGTAACCCCGACCCCAACAGCCCCTCCTGCGGCTGTGGCATCTTGACCTACCCGCTGCTCTTCCTCCTCCTTATGGCTTCTTGGTTCCTCTATTTCTCGCGTCCCGGCTCCACTAGTTGGCTCCTGAAATACTGCCAGGGCGCACGACTTCTCTCCATCCTCCCTATGTCCAGACTGTCATCACCTGTCATGGGTGAACTGCGGCAGCCTTTTCTGTAGACCTACTTCCACGCTTGATCCTCATGGACAGCCCGGAGCCTTAAAAGTGTATATCAGGCCGGGCGCGGTGGCTGACACCTGTAATCTCAGCACTTTGGGAGGCCGAGGCAGGCGGATCACTTGAGGTCAGGAGTTTGAGACCAGCCTGGGCAACATGGTGAAACCCTGTCTCTACTAAAAGTACAAAAATTAGACAGGTGTGGTAGCACACACCTGTAGTCCCAGCTACATGGGAGACTGAGGCAGGAGAATCGCTTGAGCACAGGAGGTGGAGTTTGCAGTGAGGCAAGATTGCACCACCGCACTCCAGCCTGGACAACAAAGGGAGACCGTCTCAAAAAAAAAAAAAAAGCATATAGACATTACTCCCTTGCGTGAGAGGGGCTCTGTGGCTACTTCTGGCCCTCAAAATGTTAGGTGGGATGCCGCTTACTAGCAGCTCTGCAAGATCTACTTCTTGTCCTCTCCTGTACCTCGGGACTTGGATTCTTTCCTCTCCTCCTTGCTTCCCTGAACCTCCCTCATACATTCCAAAGAGGTTTTTGCCTCAGAGTTTTGCACTTTGCCTGGAATACTTTTCCTTCAGGGCTCAGTTTACACCTCAGCATGGCCTTTCTTGGCCATTTAATCCAGAGCAGTCCCTGCCTCCAACCCAACTCACTCTTGATCACATCTTTTTTTGAAATTGAGTCTCCTGTCACCTAGGCTGGAGTGCAGTGGCATGATCTTGGCTCACTGCAACCTCTGCCTCCCAGGTTCAAGTGATTCTCCTGCCTCAGCTTCCTGAGTAGCTGGGATTACAGGTGTGCACCACCACACCTGGCTAATTTTTTGTATTTTTTTTTAGTGGAGATGGGGTTTCACTATGTTGGCCAGGCTGTTTTTGAACATCTGACCTCAGGTGATCTGCCCGCTTCAGCCTCCCAAAGTGCTGGGATTATAGGCATGAGCCACCGCGCCTGGCTACATCTGCTTCTTTCTAGGTTTATTTATTATTATTATTATTATTGAGATGGGGTCTTGCTCTGTCACCCAGGCTGGGGTGCAGTGATGGGATCACAGCTAAATGTAGCCTCCAACTCGTGGCCTCAAATGATCCCCCCACTTCAGCCTCCTGAGTAGCTGGGGCTACAGGTGAGTCACCGCATCAGGACGATTTTTTTTTTTTTTTTTTTTTTTTTTTGTAATTAACCGGCACTTTTATTTGTCGATTGTCGGTCCTGCCCACCAGATGGCGATCTAGCCCACGGCTCGTGGCTATTTCATTCACTGCTGGGTCTCCCACGGCTGGCCCAGAAACAGCACTCAATAAAGGCTGTTTGAAATGGATGTCTTTATTTACAGAACTAAGAGTCAACCTCTAGACAGTATGACAAGCCTCCTAGTAGGAGGGACTACCCACAGCAA
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Task1_train_7055
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This gene mutation involves ZMYND10 (zinc finger MYND-type containing 10) on Chromosome 3. Is it associated with any clinical condition, or is it benign?
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Pathogenic; Primary ciliary dyskinesia
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TCCCCACACAGACACAATCTCCCTTCCTGCCAGGCCCTGACCCGGAACTGTGGCCCATGGGCAGAGATAGTCCCTCACCTTGTGGAAGAACACTGTCTCCAAGAGGTTGATGATGGAGGCCTCGTGGTGCACCTGTCAGATAAAGAGAAGGACAGGGCCTGAGGAAGGGATAGGGGCTACCAGCTCTCCTCCCCGGTCCAGAGCCCTCTGAAGGAGTGAGAAGAGGTATGAACCAGGGGCCCAGCTCACCACCATGTAGATGGGGAAGGTGTTCTGGGGCTTGAAGTCCTCCACCCTGCAGAACACAGGGAACACCTTCTGCTTCCACATCTCCACTGCGATCAGCTCCTCCACCAGTGTTGGGACCTTTGAAGGGTAGGGTAAAGGACAGGGATGAGATGGGCCTACCTTTGCCTGGCAACCCTCCCATCCCCGGCTCAGCTCAACCCTGATATCCCCAAACACTGCTGGGCCCCTAAACTATTCCAGACCCATGAGTATCCTTCCTGACTTCTCTCTTGCACCTTGGACCTTCATTACCAGCTGCTCCCAACACCTCTGTGGATGTCCCTCATGCTTATGTGACTGGCTCCTGCCCAGTTCCCAGACTGCCTTGCCCTGCCTGCACCTGCACCCTTATCCTCTGCCCGCCCATTCAGGCATCCCTTTCAAGCCAGCCCTTCTCCTCATGCCCTCCCTCTAGTCCCTGTCTGTGGTCCTCCAAAGCTCTTGTGTGCCTTGGCCTCACTCCTACTCAGGACCCTTCACAGTGCCCTGTTCCTATCCTATCCCCTAGTATGAGTTCCATCTTTCTTTTGCAAAGGACCTTTCTTTTTTTTTTTTTTTTTTTTGAGACGGAGTTTCACTCTTGTCACCCAGGCTGGAGTGCAGTGGCATGATCTTGGCTCTCTGTAACCTCTGCCTCCCAGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGATTACAGGTGTGCACCACCATGCTCTGCAAATTTTTGTATTTTTAGTAGAGGTGGGGTTTCACCATGTTGGCCAGGCTGGCCTTGAACTCCTGACCTCAGATGATCCACCCGTCTTGGCCTCCCAAAATGCTGGGATAACAGGCATGAGCTACCATGCCCGGCTTTTTTTTTTTTTTTTTTGGTCAATTGATATCTCAGGTCATCTGCTGGTGACACTCCCTGGTCCATGTTCCAGCCAGGCATCTCCCTGGTTTCTAACTTCCCCCTTTCATGTTGGGAAGGCTGCTTCCTTCCATGCCGAAGTTCCACCTCCAGTTAGGTTATCTCCCCTCCCTCCCGCCCTCCCCAACCCCTCCCCACCCCTTCCCCACCACCAGCCTTACAGTCAATTCACAGATGCCTTTAGCATTTGGGCCTTCCCCTTGAAGCCTAAGCTGTTCTAGGACCTACAGCTTTCTCCCTAATCAACTCATGCCCTGCACCCAGCCTGGTGTGCCAGAGTCCTGTCCAATAGGGATACAAAATGAAACATGTAACACATTCCTCTTTGTCCTTCAGGGAGAACAGGTGTACCAGGCCAGAGGGGAAGGGCACACAGGGGACTCCGGAGGGGTAGAGTAGGTGAGGTATGGGGGAAGGCAGGAACCCTGCCTGTGACCTCGGGGTACCTTCCCATGGGTGACCAGCAGCTCCTGAATGGGCTCGCCCTGGCTGACTGTGGCATCGAGGATGGCTTGCATGTTCAGCTTCTCCAGGTTCTCATGCTGCTGGTTCCACCTGCCTCAGAGGGTAAGTGCATGTGCGTCCACGTGTGTGCATTAGGAGTGGGGATGGGGGCTGGATCCTACTGAAGCCTAACCTGATCCTGAGGGGACACAGGGGGCTCAGGAGCAGTAATACTCCTGTCTCGGAACGCTCTGCTCCCCCATTTGGGAGCCCCTCCACACTGGGCAGCCCCTCCCCCGAGTCAGGCCCCAGCTCCCCGACTCAAGGACAATGACTCCGGGACTCCGCCTGACCCGGGTGCCTCACCCTTCGGAGCCCATCTCGCGTAGCGGGAAGCTGCGCAGACCCCGCACCAGCACTTCAGCTTCCCCGGGCAGCAGCAGTTCCAGGTCTCCCATATCGAGGCCGGGGTCCGGCGGATCCTGGGCAGCAGCCGGGGTGGGGATGCTGTCACATTCGGGGACGACGGACCCCGACGGTGCCAAAGTCTGGGACAGGACAGTTGCGGGACGGTTGGGGAGCGTCAGTTCTCGCAGCCATGGAAACGGGTTAGCCGCGCCTGCGCAGTGCGGCCTGGGCCCCGCCCCTGGAGGTGGCTCGCGCCTAAATCCGGGCGGGTCTCTAGCCCGCCTCGCCTACGCGACTGCCAATCGCCATAGTATTTGGATTCCCAGCGCTTTCTCGGGCTGTGGCCCACGAGTCTCTCCTGAGCTCCAGATCCTTGTGGTCTGGACTCTGTCCTCAGACGCCAAGTCCGCCTGCACAGGGATGGGGGTAACCCCGACCCCAACAGCCCCTCCTGCGGCTGTGGCATCTTGACCTACCCGCTGCTCTTCCTCCTCCTTATGGCTTCTTGGTTCCTCTATTTCTCGCGTCCCGGCTCCACTAGTTGGCTCCTGAAATACTGCCAGGGCGCACGACTTCTCTCCATCCTCCCTATGTCCAGACTGTCATCACCTGTCATGGGTGAACTGCGGCAGCCTTTTCTGTAGACCTACTTCCACGCTTGATCCTCATGGACAGCCCGGAGCCTTAAAAGTGTATATCAGGCCGGGCGCGGTGGCTGACACCTGTAATCTCAGCACTTTGGGAGGCCGAGGCAGGCGGATCACTTGAGGTCAGGAGTTTGAGACCAGCCTGGGCAACATGGTGAAACCCTGTCTCTACTAAAAGTACAAAAATTAGACAGGTGTGGTAGCACACACCTGTAGTCCCAGCTACATGGGAGACTGAGGCAGGAGAATCGCTTGAGCACAGGAGGTGGAGTTTGCAGTGAGGCAAGATTGCACCACCGCACTCCAGCCTGGACAACAAAGGGAGACCGTCTCAAAAAAAAAAAAAAAGCATATAGACATTACTCCCTTGCGTGAGAGGGGCTCTGTGGCTACTTCTGGCCCTCAAAATGTTAGGTGGGATGCCGCTTACTAGCAGCTCTGCAAGATCTACTTCTTGTCCTCTCCTGTACCTCGGGACTTGGATTCTTTCCTCTCCTCCTTGCTTCCCTGAACCTCCCTCATACATTCCAAAGAGGTTTTTGCCTCAGAGTTTTGCACTTTGCCTGGAATACTTTTCCTTCAGGGCTCAGTTTACACCTCAGCATGGCCTTTCTTGGCCATTTAATCCAGAGCAGTCCCTGCCTCCAACCCAACTCACTCTTGATCACATCTTTTTTTGAAATTGAGTCTCCTGTCACCTAGGCTGGAGTGCAGTGGCATGATCTTGGCTCACTGCAACCTCTGCCTCCCAGGTTCAAGTGATTCTCCTGCCTCAGCTTCCTGAGTAGCTGGGATTACAGGTGTGCACCACCACACCTGGCTAATTTTTTGTATTTTTTTTTAGTGGAGATGGGGTTTCACTATGTTGGCCAGGCTGTTTTTGAACATCTGACCTCAGGTGATCTGCCCGCTTCAGCCTCCCAAAGTGCTGGGATTATAGGCATGAGCCACCGCGCCTGGCTACATCTGCTTCTTTCTAGGTTTATTTATTATTATTATTATTATTGAGATGGGGTCTTGCTCTGTCACCCAGGCTGGGGTGCAGTGATGGGATCACAGCTAAATGTAGCCTCCAACTCGTGGCCTCAAATGATCCCCCCACTTCAGCCTCCTGAGTAGCTGGGGCTACAGGTGAGTCACCGCATCAGGACGATTTTTTTTTTTTTTTTTTTTTTTTTTTGTAATTAACCGGCACTTTTATTTGTCGATTGTCGGTCCTGCCCACCAGATGGCGATCTAGCCCACGGCTCGTGGCTATTTCATTCACTGCTGGGTCTCCCACGGCTGGCCCAGAAACAGCACTCAATAAAGGCTGTTTGAAATGGATGTCTTTATTTACAGAACTAAGAGTCAACCTCTAGACAGTATGACAAGCCTCCTAGTAGGAGGGACTACCCACAGCAA
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TCCCCACACAGACACAATCTCCCTTCCTGCCAGGCCCTGACCCGGAACTGTGGCCCATGGGCAGAGATAGTCCCTCACCTTGTGGAAGAACACTGTCTCCAAGAGGTTGATGATGGAGGCCTCGTGGTGCACCTGTCAGATAAAGAGAAGGACAGGGCCTGAGGAAGGGATAGGGGCTACCAGCTCTCCTCCCCGGTCCAGAGCCCTCTGAAGGAGTGAGAAGAGGTATGAACCAGGGGCCCAGCTCACCACCATGTAGATGGGGAAGGTGTTCTGGGGCTTGAAGTCCTCCACCCTGCAGAACACAGGGAACACCTTCTGCTTCCACATCTCCACTGCGATCAGCTCCTCCACCAGTGTTGGGACCTTTGAAGGGTAGGGTAAAGGACAGGGATGAGATGGGCCTACCTTTGCCTGGCAACCCTCCCATCCCCGGCTCAGCTCAACCCTGATATCCCCAAACACTGCTGGGCCCCTAAACTATTCCAGACCCATGAGTATCCTTCCTGACTTCTCTCTTGCACCTTGGACCTTCATTACCAGCTGCTCCCAACACCTCTGTGGATGTCCCTCATGCTTATGTGACTGGCTCCTGCCCAGTTCCCAGACTGCCTTGCCCTGCCTGCACCTGCACCCTTATCCTCTGCCCGCCCATTCAGGCATCCCTTTCAAGCCAGCCCTTCTCCTCATGCCCTCCCTCTAGTCCCTGTCTGTGGTCCTCCAAAGCTCTTGTGTGCCTTGGCCTCACTCCTACTCAGGACCCTTCACAGTGCCCTGTTCCTATCCTATCCCCTAGTATGAGTTCCATCTTTCTTTTGCAAAGGACCTTTCTTTTTTTTTTTTTTTTTTTTGAGACGGAGTTTCACTCTTGTCACCCAGGCTGGAGTGCAGTGGCATGATCTTGGCTCTCTGTAACCTCTGCCTCCCAGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGATTACAGGTGTGCACCACCATGCTCTGCAAATTTTTGTATTTTTAGTAGAGGTGGGGTTTCACCATGTTGGCCAGGCTGGCCTTGAACTCCTGACCTCAGATGATCCACCCGTCTTGGCCTCCCAAAATGCTGGGATAACAGGCATGAGCTACCATGCCCGGCTTTTTTTTTTTTTTTTTTGGTCAATTGATATCTCAGGTCATCTGCTGGTGACACTCCCTGGTCCATGTTCCAGCCAGGCATCTCCCTGGTTTCTAACTTCCCCCTTTCATGTTGGGAAGGCTGCTTCCTTCCATGCCGAAGTTCCACCTCCAGTTAGGTTATCTCCCCTCCCTCCCGCCCTCCCCAACCCCTCCCCACCCCTTCCCCACCACCAGCCTTACAGTCAATTCACAGATGCCTTTAGCATTTGGGCCTTCCCCTTGAAGCCTAAGCTGTTCTAGGACCTACAGCTTTCTCCCTAATCAACTCATGCCCTGCACCCAGCCTGGTGTGCCAGAGTCCTGTCCAATAGGGATACAAAATGAAACATGTAACACATTCCTCTTTGTCCTTCAGGGAGAACAGGTGTACCAGGCCAGAGGGGAAGGGCACACAGGGGACTCCGGAGGGGTAGAGTAGGTGAGGTATGGGGGAAGGCAGGAACCCTGCCTGTGACCTCGGGGTACCTTCCCATGGGTGACCAGCAGCTCCTGAATGGGCTCGCCCTGGCTGACTGTGGCATCGAGGATGGCTTGCATGTTCAGCTTCTCCAGGTTCTCATGCTGCTGGTTCCACCTGCCTCAGAGGGTAAGTGCATGTGCGTCCACGTGTGTGCATTAGGAGTGGGGATGGGGGCTGGATCCTACTGAAGCCTAACCTGATCCTGAGGGGACACAGGGGGCTCAGGAGCAGTAATACTCCTGTCTCGGAACGCTCTGCTCCCCCATTTGGGAGCCCCTCCACACTGGGCAGCCCCTCCCCCGAGTCAGGCCCCAGCTCCCCGACTCAAGGACAATGACTCCGGGACTCCGCCTGACCCGGGTGCCTCACCCTTCGGAGCCCATCTCGCGTAGCGGGAAGCTGCGCAGACCCCGCCCCAGCACTTCAGCTTCCCCGGGCAGCAGCAGTTCCAGGTCTCCCATATCGAGGCCGGGGTCCGGCGGATCCTGGGCAGCAGCCGGGGTGGGGATGCTGTCACATTCGGGGACGACGGACCCCGACGGTGCCAAAGTCTGGGACAGGACAGTTGCGGGACGGTTGGGGAGCGTCAGTTCTCGCAGCCATGGAAACGGGTTAGCCGCGCCTGCGCAGTGCGGCCTGGGCCCCGCCCCTGGAGGTGGCTCGCGCCTAAATCCGGGCGGGTCTCTAGCCCGCCTCGCCTACGCGACTGCCAATCGCCATAGTATTTGGATTCCCAGCGCTTTCTCGGGCTGTGGCCCACGAGTCTCTCCTGAGCTCCAGATCCTTGTGGTCTGGACTCTGTCCTCAGACGCCAAGTCCGCCTGCACAGGGATGGGGGTAACCCCGACCCCAACAGCCCCTCCTGCGGCTGTGGCATCTTGACCTACCCGCTGCTCTTCCTCCTCCTTATGGCTTCTTGGTTCCTCTATTTCTCGCGTCCCGGCTCCACTAGTTGGCTCCTGAAATACTGCCAGGGCGCACGACTTCTCTCCATCCTCCCTATGTCCAGACTGTCATCACCTGTCATGGGTGAACTGCGGCAGCCTTTTCTGTAGACCTACTTCCACGCTTGATCCTCATGGACAGCCCGGAGCCTTAAAAGTGTATATCAGGCCGGGCGCGGTGGCTGACACCTGTAATCTCAGCACTTTGGGAGGCCGAGGCAGGCGGATCACTTGAGGTCAGGAGTTTGAGACCAGCCTGGGCAACATGGTGAAACCCTGTCTCTACTAAAAGTACAAAAATTAGACAGGTGTGGTAGCACACACCTGTAGTCCCAGCTACATGGGAGACTGAGGCAGGAGAATCGCTTGAGCACAGGAGGTGGAGTTTGCAGTGAGGCAAGATTGCACCACCGCACTCCAGCCTGGACAACAAAGGGAGACCGTCTCAAAAAAAAAAAAAAAGCATATAGACATTACTCCCTTGCGTGAGAGGGGCTCTGTGGCTACTTCTGGCCCTCAAAATGTTAGGTGGGATGCCGCTTACTAGCAGCTCTGCAAGATCTACTTCTTGTCCTCTCCTGTACCTCGGGACTTGGATTCTTTCCTCTCCTCCTTGCTTCCCTGAACCTCCCTCATACATTCCAAAGAGGTTTTTGCCTCAGAGTTTTGCACTTTGCCTGGAATACTTTTCCTTCAGGGCTCAGTTTACACCTCAGCATGGCCTTTCTTGGCCATTTAATCCAGAGCAGTCCCTGCCTCCAACCCAACTCACTCTTGATCACATCTTTTTTTGAAATTGAGTCTCCTGTCACCTAGGCTGGAGTGCAGTGGCATGATCTTGGCTCACTGCAACCTCTGCCTCCCAGGTTCAAGTGATTCTCCTGCCTCAGCTTCCTGAGTAGCTGGGATTACAGGTGTGCACCACCACACCTGGCTAATTTTTTGTATTTTTTTTTAGTGGAGATGGGGTTTCACTATGTTGGCCAGGCTGTTTTTGAACATCTGACCTCAGGTGATCTGCCCGCTTCAGCCTCCCAAAGTGCTGGGATTATAGGCATGAGCCACCGCGCCTGGCTACATCTGCTTCTTTCTAGGTTTATTTATTATTATTATTATTATTGAGATGGGGTCTTGCTCTGTCACCCAGGCTGGGGTGCAGTGATGGGATCACAGCTAAATGTAGCCTCCAACTCGTGGCCTCAAATGATCCCCCCACTTCAGCCTCCTGAGTAGCTGGGGCTACAGGTGAGTCACCGCATCAGGACGATTTTTTTTTTTTTTTTTTTTTTTTTTTGTAATTAACCGGCACTTTTATTTGTCGATTGTCGGTCCTGCCCACCAGATGGCGATCTAGCCCACGGCTCGTGGCTATTTCATTCACTGCTGGGTCTCCCACGGCTGGCCCAGAAACAGCACTCAATAAAGGCTGTTTGAAATGGATGTCTTTATTTACAGAACTAAGAGTCAACCTCTAGACAGTATGACAAGCCTCCTAGTAGGAGGGACTACCCACAGCAA
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Task1_train_7056
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Located on Chromosome 3, this mutation impacts ZMYND10 (zinc finger MYND-type containing 10). What is its biological consequence — is it benign or pathogenic, and which disease is associated if any?
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Pathogenic; Primary ciliary dyskinesia
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ACTGTGGCCCATGGGCAGAGATAGTCCCTCACCTTGTGGAAGAACACTGTCTCCAAGAGGTTGATGATGGAGGCCTCGTGGTGCACCTGTCAGATAAAGAGAAGGACAGGGCCTGAGGAAGGGATAGGGGCTACCAGCTCTCCTCCCCGGTCCAGAGCCCTCTGAAGGAGTGAGAAGAGGTATGAACCAGGGGCCCAGCTCACCACCATGTAGATGGGGAAGGTGTTCTGGGGCTTGAAGTCCTCCACCCTGCAGAACACAGGGAACACCTTCTGCTTCCACATCTCCACTGCGATCAGCTCCTCCACCAGTGTTGGGACCTTTGAAGGGTAGGGTAAAGGACAGGGATGAGATGGGCCTACCTTTGCCTGGCAACCCTCCCATCCCCGGCTCAGCTCAACCCTGATATCCCCAAACACTGCTGGGCCCCTAAACTATTCCAGACCCATGAGTATCCTTCCTGACTTCTCTCTTGCACCTTGGACCTTCATTACCAGCTGCTCCCAACACCTCTGTGGATGTCCCTCATGCTTATGTGACTGGCTCCTGCCCAGTTCCCAGACTGCCTTGCCCTGCCTGCACCTGCACCCTTATCCTCTGCCCGCCCATTCAGGCATCCCTTTCAAGCCAGCCCTTCTCCTCATGCCCTCCCTCTAGTCCCTGTCTGTGGTCCTCCAAAGCTCTTGTGTGCCTTGGCCTCACTCCTACTCAGGACCCTTCACAGTGCCCTGTTCCTATCCTATCCCCTAGTATGAGTTCCATCTTTCTTTTGCAAAGGACCTTTCTTTTTTTTTTTTTTTTTTTTGAGACGGAGTTTCACTCTTGTCACCCAGGCTGGAGTGCAGTGGCATGATCTTGGCTCTCTGTAACCTCTGCCTCCCAGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGATTACAGGTGTGCACCACCATGCTCTGCAAATTTTTGTATTTTTAGTAGAGGTGGGGTTTCACCATGTTGGCCAGGCTGGCCTTGAACTCCTGACCTCAGATGATCCACCCGTCTTGGCCTCCCAAAATGCTGGGATAACAGGCATGAGCTACCATGCCCGGCTTTTTTTTTTTTTTTTTTGGTCAATTGATATCTCAGGTCATCTGCTGGTGACACTCCCTGGTCCATGTTCCAGCCAGGCATCTCCCTGGTTTCTAACTTCCCCCTTTCATGTTGGGAAGGCTGCTTCCTTCCATGCCGAAGTTCCACCTCCAGTTAGGTTATCTCCCCTCCCTCCCGCCCTCCCCAACCCCTCCCCACCCCTTCCCCACCACCAGCCTTACAGTCAATTCACAGATGCCTTTAGCATTTGGGCCTTCCCCTTGAAGCCTAAGCTGTTCTAGGACCTACAGCTTTCTCCCTAATCAACTCATGCCCTGCACCCAGCCTGGTGTGCCAGAGTCCTGTCCAATAGGGATACAAAATGAAACATGTAACACATTCCTCTTTGTCCTTCAGGGAGAACAGGTGTACCAGGCCAGAGGGGAAGGGCACACAGGGGACTCCGGAGGGGTAGAGTAGGTGAGGTATGGGGGAAGGCAGGAACCCTGCCTGTGACCTCGGGGTACCTTCCCATGGGTGACCAGCAGCTCCTGAATGGGCTCGCCCTGGCTGACTGTGGCATCGAGGATGGCTTGCATGTTCAGCTTCTCCAGGTTCTCATGCTGCTGGTTCCACCTGCCTCAGAGGGTAAGTGCATGTGCGTCCACGTGTGTGCATTAGGAGTGGGGATGGGGGCTGGATCCTACTGAAGCCTAACCTGATCCTGAGGGGACACAGGGGGCTCAGGAGCAGTAATACTCCTGTCTCGGAACGCTCTGCTCCCCCATTTGGGAGCCCCTCCACACTGGGCAGCCCCTCCCCCGAGTCAGGCCCCAGCTCCCCGACTCAAGGACAATGACTCCGGGACTCCGCCTGACCCGGGTGCCTCACCCTTCGGAGCCCATCTCGCGTAGCGGGAAGCTGCGCAGACCCCGCACCAGCACTTCAGCTTCCCCGGGCAGCAGCAGTTCCAGGTCTCCCATATCGAGGCCGGGGTCCGGCGGATCCTGGGCAGCAGCCGGGGTGGGGATGCTGTCACATTCGGGGACGACGGACCCCGACGGTGCCAAAGTCTGGGACAGGACAGTTGCGGGACGGTTGGGGAGCGTCAGTTCTCGCAGCCATGGAAACGGGTTAGCCGCGCCTGCGCAGTGCGGCCTGGGCCCCGCCCCTGGAGGTGGCTCGCGCCTAAATCCGGGCGGGTCTCTAGCCCGCCTCGCCTACGCGACTGCCAATCGCCATAGTATTTGGATTCCCAGCGCTTTCTCGGGCTGTGGCCCACGAGTCTCTCCTGAGCTCCAGATCCTTGTGGTCTGGACTCTGTCCTCAGACGCCAAGTCCGCCTGCACAGGGATGGGGGTAACCCCGACCCCAACAGCCCCTCCTGCGGCTGTGGCATCTTGACCTACCCGCTGCTCTTCCTCCTCCTTATGGCTTCTTGGTTCCTCTATTTCTCGCGTCCCGGCTCCACTAGTTGGCTCCTGAAATACTGCCAGGGCGCACGACTTCTCTCCATCCTCCCTATGTCCAGACTGTCATCACCTGTCATGGGTGAACTGCGGCAGCCTTTTCTGTAGACCTACTTCCACGCTTGATCCTCATGGACAGCCCGGAGCCTTAAAAGTGTATATCAGGCCGGGCGCGGTGGCTGACACCTGTAATCTCAGCACTTTGGGAGGCCGAGGCAGGCGGATCACTTGAGGTCAGGAGTTTGAGACCAGCCTGGGCAACATGGTGAAACCCTGTCTCTACTAAAAGTACAAAAATTAGACAGGTGTGGTAGCACACACCTGTAGTCCCAGCTACATGGGAGACTGAGGCAGGAGAATCGCTTGAGCACAGGAGGTGGAGTTTGCAGTGAGGCAAGATTGCACCACCGCACTCCAGCCTGGACAACAAAGGGAGACCGTCTCAAAAAAAAAAAAAAAGCATATAGACATTACTCCCTTGCGTGAGAGGGGCTCTGTGGCTACTTCTGGCCCTCAAAATGTTAGGTGGGATGCCGCTTACTAGCAGCTCTGCAAGATCTACTTCTTGTCCTCTCCTGTACCTCGGGACTTGGATTCTTTCCTCTCCTCCTTGCTTCCCTGAACCTCCCTCATACATTCCAAAGAGGTTTTTGCCTCAGAGTTTTGCACTTTGCCTGGAATACTTTTCCTTCAGGGCTCAGTTTACACCTCAGCATGGCCTTTCTTGGCCATTTAATCCAGAGCAGTCCCTGCCTCCAACCCAACTCACTCTTGATCACATCTTTTTTTGAAATTGAGTCTCCTGTCACCTAGGCTGGAGTGCAGTGGCATGATCTTGGCTCACTGCAACCTCTGCCTCCCAGGTTCAAGTGATTCTCCTGCCTCAGCTTCCTGAGTAGCTGGGATTACAGGTGTGCACCACCACACCTGGCTAATTTTTTGTATTTTTTTTTAGTGGAGATGGGGTTTCACTATGTTGGCCAGGCTGTTTTTGAACATCTGACCTCAGGTGATCTGCCCGCTTCAGCCTCCCAAAGTGCTGGGATTATAGGCATGAGCCACCGCGCCTGGCTACATCTGCTTCTTTCTAGGTTTATTTATTATTATTATTATTATTGAGATGGGGTCTTGCTCTGTCACCCAGGCTGGGGTGCAGTGATGGGATCACAGCTAAATGTAGCCTCCAACTCGTGGCCTCAAATGATCCCCCCACTTCAGCCTCCTGAGTAGCTGGGGCTACAGGTGAGTCACCGCATCAGGACGATTTTTTTTTTTTTTTTTTTTTTTTTTTGTAATTAACCGGCACTTTTATTTGTCGATTGTCGGTCCTGCCCACCAGATGGCGATCTAGCCCACGGCTCGTGGCTATTTCATTCACTGCTGGGTCTCCCACGGCTGGCCCAGAAACAGCACTCAATAAAGGCTGTTTGAAATGGATGTCTTTATTTACAGAACTAAGAGTCAACCTCTAGACAGTATGACAAGCCTCCTAGTAGGAGGGACTACCCACAGCAATGTGTCCATCCAGTCACTACCAGCCTCACTTCCAGCAGATGATGAT
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ACTGTGGCCCATGGGCAGAGATAGTCCCTCACCTTGTGGAAGAACACTGTCTCCAAGAGGTTGATGATGGAGGCCTCGTGGTGCACCTGTCAGATAAAGAGAAGGACAGGGCCTGAGGAAGGGATAGGGGCTACCAGCTCTCCTCCCCGGTCCAGAGCCCTCTGAAGGAGTGAGAAGAGGTATGAACCAGGGGCCCAGCTCACCACCATGTAGATGGGGAAGGTGTTCTGGGGCTTGAAGTCCTCCACCCTGCAGAACACAGGGAACACCTTCTGCTTCCACATCTCCACTGCGATCAGCTCCTCCACCAGTGTTGGGACCTTTGAAGGGTAGGGTAAAGGACAGGGATGAGATGGGCCTACCTTTGCCTGGCAACCCTCCCATCCCCGGCTCAGCTCAACCCTGATATCCCCAAACACTGCTGGGCCCCTAAACTATTCCAGACCCATGAGTATCCTTCCTGACTTCTCTCTTGCACCTTGGACCTTCATTACCAGCTGCTCCCAACACCTCTGTGGATGTCCCTCATGCTTATGTGACTGGCTCCTGCCCAGTTCCCAGACTGCCTTGCCCTGCCTGCACCTGCACCCTTATCCTCTGCCCGCCCATTCAGGCATCCCTTTCAAGCCAGCCCTTCTCCTCATGCCCTCCCTCTAGTCCCTGTCTGTGGTCCTCCAAAGCTCTTGTGTGCCTTGGCCTCACTCCTACTCAGGACCCTTCACAGTGCCCTGTTCCTATCCTATCCCCTAGTATGAGTTCCATCTTTCTTTTGCAAAGGACCTTTCTTTTTTTTTTTTTTTTTTTTGAGACGGAGTTTCACTCTTGTCACCCAGGCTGGAGTGCAGTGGCATGATCTTGGCTCTCTGTAACCTCTGCCTCCCAGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGATTACAGGTGTGCACCACCATGCTCTGCAAATTTTTGTATTTTTAGTAGAGGTGGGGTTTCACCATGTTGGCCAGGCTGGCCTTGAACTCCTGACCTCAGATGATCCACCCGTCTTGGCCTCCCAAAATGCTGGGATAACAGGCATGAGCTACCATGCCCGGCTTTTTTTTTTTTTTTTTTGGTCAATTGATATCTCAGGTCATCTGCTGGTGACACTCCCTGGTCCATGTTCCAGCCAGGCATCTCCCTGGTTTCTAACTTCCCCCTTTCATGTTGGGAAGGCTGCTTCCTTCCATGCCGAAGTTCCACCTCCAGTTAGGTTATCTCCCCTCCCTCCCGCCCTCCCCAACCCCTCCCCACCCCTTCCCCACCACCAGCCTTACAGTCAATTCACAGATGCCTTTAGCATTTGGGCCTTCCCCTTGAAGCCTAAGCTGTTCTAGGACCTACAGCTTTCTCCCTAATCAACTCATGCCCTGCACCCAGCCTGGTGTGCCAGAGTCCTGTCCAATAGGGATACAAAATGAAACATGTAACACATTCCTCTTTGTCCTTCAGGGAGAACAGGTGTACCAGGCCAGAGGGGAAGGGCACACAGGGGACTCCGGAGGGGTAGAGTAGGTGAGGTATGGGGGAAGGCAGGAACCCTGCCTGTGACCTCGGGGTACCTTCCCATGGGTGACCAGCAGCTCCTGAATGGGCTCGCCCTGGCTGACTGTGGCATCGAGGATGGCTTGCATGTTCAGCTTCTCCAGGTTCTCATGCTGCTGGTTCCACCTGCCTCAGAGGGTAAGTGCATGTGCGTCCACGTGTGTGCATTAGGAGTGGGGATGGGGGCTGGATCCTACTGAAGCCTAACCTGATCCTGAGGGGACACAGGGGGCTCAGGAGCAGTAATACTCCTGTCTCGGAACGCTCTGCTCCCCCATTTGGGAGCCCCTCCACACTGGGCAGCCCCTCCCCCGAGTCAGGCCCCAGCTCCCCGACTCAAGGACAATGACTCCGGGACTCCGCCTGACCCGGGTGCCTCACCCTTCGGAGCCCATCTCGCGTAGCGGGAAGCTGCGCAGACCCCGCACCAGCACTTCAGCTTCCCCGGGCAGCAGCAGTTCCAGGTCTCCCACATCGAGGCCGGGGTCCGGCGGATCCTGGGCAGCAGCCGGGGTGGGGATGCTGTCACATTCGGGGACGACGGACCCCGACGGTGCCAAAGTCTGGGACAGGACAGTTGCGGGACGGTTGGGGAGCGTCAGTTCTCGCAGCCATGGAAACGGGTTAGCCGCGCCTGCGCAGTGCGGCCTGGGCCCCGCCCCTGGAGGTGGCTCGCGCCTAAATCCGGGCGGGTCTCTAGCCCGCCTCGCCTACGCGACTGCCAATCGCCATAGTATTTGGATTCCCAGCGCTTTCTCGGGCTGTGGCCCACGAGTCTCTCCTGAGCTCCAGATCCTTGTGGTCTGGACTCTGTCCTCAGACGCCAAGTCCGCCTGCACAGGGATGGGGGTAACCCCGACCCCAACAGCCCCTCCTGCGGCTGTGGCATCTTGACCTACCCGCTGCTCTTCCTCCTCCTTATGGCTTCTTGGTTCCTCTATTTCTCGCGTCCCGGCTCCACTAGTTGGCTCCTGAAATACTGCCAGGGCGCACGACTTCTCTCCATCCTCCCTATGTCCAGACTGTCATCACCTGTCATGGGTGAACTGCGGCAGCCTTTTCTGTAGACCTACTTCCACGCTTGATCCTCATGGACAGCCCGGAGCCTTAAAAGTGTATATCAGGCCGGGCGCGGTGGCTGACACCTGTAATCTCAGCACTTTGGGAGGCCGAGGCAGGCGGATCACTTGAGGTCAGGAGTTTGAGACCAGCCTGGGCAACATGGTGAAACCCTGTCTCTACTAAAAGTACAAAAATTAGACAGGTGTGGTAGCACACACCTGTAGTCCCAGCTACATGGGAGACTGAGGCAGGAGAATCGCTTGAGCACAGGAGGTGGAGTTTGCAGTGAGGCAAGATTGCACCACCGCACTCCAGCCTGGACAACAAAGGGAGACCGTCTCAAAAAAAAAAAAAAAGCATATAGACATTACTCCCTTGCGTGAGAGGGGCTCTGTGGCTACTTCTGGCCCTCAAAATGTTAGGTGGGATGCCGCTTACTAGCAGCTCTGCAAGATCTACTTCTTGTCCTCTCCTGTACCTCGGGACTTGGATTCTTTCCTCTCCTCCTTGCTTCCCTGAACCTCCCTCATACATTCCAAAGAGGTTTTTGCCTCAGAGTTTTGCACTTTGCCTGGAATACTTTTCCTTCAGGGCTCAGTTTACACCTCAGCATGGCCTTTCTTGGCCATTTAATCCAGAGCAGTCCCTGCCTCCAACCCAACTCACTCTTGATCACATCTTTTTTTGAAATTGAGTCTCCTGTCACCTAGGCTGGAGTGCAGTGGCATGATCTTGGCTCACTGCAACCTCTGCCTCCCAGGTTCAAGTGATTCTCCTGCCTCAGCTTCCTGAGTAGCTGGGATTACAGGTGTGCACCACCACACCTGGCTAATTTTTTGTATTTTTTTTTAGTGGAGATGGGGTTTCACTATGTTGGCCAGGCTGTTTTTGAACATCTGACCTCAGGTGATCTGCCCGCTTCAGCCTCCCAAAGTGCTGGGATTATAGGCATGAGCCACCGCGCCTGGCTACATCTGCTTCTTTCTAGGTTTATTTATTATTATTATTATTATTGAGATGGGGTCTTGCTCTGTCACCCAGGCTGGGGTGCAGTGATGGGATCACAGCTAAATGTAGCCTCCAACTCGTGGCCTCAAATGATCCCCCCACTTCAGCCTCCTGAGTAGCTGGGGCTACAGGTGAGTCACCGCATCAGGACGATTTTTTTTTTTTTTTTTTTTTTTTTTTGTAATTAACCGGCACTTTTATTTGTCGATTGTCGGTCCTGCCCACCAGATGGCGATCTAGCCCACGGCTCGTGGCTATTTCATTCACTGCTGGGTCTCCCACGGCTGGCCCAGAAACAGCACTCAATAAAGGCTGTTTGAAATGGATGTCTTTATTTACAGAACTAAGAGTCAACCTCTAGACAGTATGACAAGCCTCCTAGTAGGAGGGACTACCCACAGCAATGTGTCCATCCAGTCACTACCAGCCTCACTTCCAGCAGATGATGAT
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Task1_train_7057
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Gene NPRL2 (NPR2 like, GATOR1 complex subunit) on Chromosome 3 is impacted by this variant. Evaluate whether it is clinically benign or pathogenic and name the disorder if relevant.
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Pathogenic; Epilepsy, familial focal, with variable foci 2
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AAGCCGCTCATCCAGCTCATGGTAGCTCATGCCTGGGTGGGGTGGTGGAGGAGAGGTCAGTGGCCTTGGCCTGGCCACCCTGCCCTGAACCCACCCTGACTGCCCGCCTGCCTCCACCTGTCTTGCAGCAGATCTCGTCATAGCTGTGGCAGCCTGTATAAAGCCGGGCAGGGTGGCTCTGCTCTTCCCGAGTCACCCGCACAGGATACTTCTGTAGTCGCCTGATGAGGTTCTTCATAAGCCCGAACTGGATCAGCTTCCTAGGGTGAGGATCAGAGGACGGGGTGACGCCCTGGCCAGGCCTTCTTTCAGGCAGGCCAACCCTTTCCTGTAGTCTCCCTTCAATTTTGTCTCTGTAGCCCATCATCTCCAGGAAGCCTGCTTGGATTGGCAGTGCCCCATGATCCAGGGCTCCTGAGAGACATAAAGGGTCTAGCTTCCCTCAGGTAACTCCCAAATGCCCCAGCAAATTCTCCTCTGACCGTTCATCAACATGCTGCAGCTGCTGGGGGTGGCGGCCAATGAGGTCTCGCACGGTAGTGCCAGGGCTCAGGCTGCAGTATAGCTGGAACACATCCCGGAGACTGGCCCTCTTGTGCCCTGTGGGTGCCAGGGATCAGCTCATCATGTGGCCCTGCCCTCCCCAAGATGGCTTCCCCCAGAACCCACCACTACCTTGCTTGGTCACGTAGGATAGACATGCCTCTTGCAGGGACTTGTCATCTACCAGGTCCTGGACCTTGGGCGTTGGGCAGTATACATTGGAGTACTAGAGGGTAGCAGAAGGCATAGGGGCCTGAGTGAGGGGCTTGGGAAGCTGACACAGCCCTGGTCTGGTCCAGCCACATGATCCACTCTCCACTTAACCAAACCCAACTCACCTACCTGGAGGATGGACACCAGTGTCACAACGCCGTAGTACCTGAGAGAGAGAGCTGTGCTCAGCTTCTGAGGACCATGCCTTCCCAACCCTCACACCCAGGGCCCCTGAGGTCTTCCCTGGCTGGTGACCTTGTCCCAGGTATGACTGTAGGCCCACTCACAGCAGGTTCTGGATAGCAATGCGCACCAGGTTGAGCTCCACATCTGCCTCTGCTGAAATCTTCTGGATGTGGCGGAACCCATCAATGTAGGGCAGGATCTGGGCAGAGTGGGACAAGGTCAGAAGAAACAGGATGAGGCCAGGGCTGTGGCCAGCCCCAGGTGATGATACCCAGGGAGGGATGGCATACTTGTTGTGTAGTGAGGTCCCACTGTGAGTTGAAGAAATCCTCCTTGTCTTTGGTAAAGACAGGTACATCATACTCCTGGGCCACCGGAGGGTCTGGCCGCTGCTCAATCACCTTCAAGTGGATGGTGTTGGACTCATCTGCAGGGGGCCCCATCCATATCCTCAGTGCCACTTCTTCCAAGAGGTCCTCAATTACCATCCAGGCCTCCCAGCATCCCTTGGGGCAAGCAGGTGCCTCTGGGTAGGGCTAATCTTTCTCTTTTTATGGAGTGAGAAACGGAGGCCCACAAAGGGGAAGGAATTGCCCAAGGGGCAGAGCTGGAGAGCTCTGCTTTCCCCCTACCCCCAGTCCCAGCTCCATCATGCATTGGACCCTGGACATGGGCACCTCAGCCCATGGCTATTTCCTGCCCACCAATGTGTTCATGAGTCTTGCCCTTCTCCCTGACTAGCTGGGTTCACTTTCCCATCTCTCCTCTACCCCTCTGCTGTCCTTGCAGAGGCTGGCCATACCAATGGGCAGAGTGCACCGGCCTGAGGCATTTAGCTCCTCCAGCAAGATGGTCATGATGGGCACCAACTTCTGCTTGCTCTCCTCCATGGACACGAAGCTGCTCTCTAGCTAGACAGAGCATGGAAAGCATGGTGGGCACATCCCAGGACCCCTGGCTGGTTGGCTGCCCTGAGTCCTGAGCTGGTTTGCAGGGTCCCAGGTTTGGGGGACTTTGGAGACATGGGAACACCTTCCCCAACTCTGCCTGTCGGTAAACCCAAGCCCATCTCATTGCAGACCTCTAGTGTGGTCAGATAGCCAGCCAGCTTTTTAACAATGGGCTCGAGGGCGCAGGTCTTGGCCTGGGCATCACACACGAAGCCCAGGTTGAAGAGGAGAGCATTGCGGCTGTACTTCTTGTGTTCGATGCACACAGGACAGCCGATCAGCTTCTTTTCCATAGCTGTGCTGGATAATTGGAACACAGTCAGGCCCCCAAGCCTGTCCCTTCCTCCTCCTGGGACAACCCCTGCCACCCACCGCTCACCCCGAGCTAGGGTCTCACACAGTGATAAGCTTGTTCTGCAGCTCTGGCTTGGTGATGATGTACACTTGGACTGTGTCAAACAGCTCTCGGGAGATGAAGTCTTCAGGGACCTGGGGAGGGGAGTGGCAATGGGCCCCTCAGTGGACATCTGTACTGGGTGTAGTACAAATGGTGACCTCCTCATGCCCCCCAAGCCCAAGTCCTCTTCTCCAGCGTTCCCCTCTCTCCCATCCACTCAGGCCTATTACTTCTTTCTGTTTCCAAACATACGCTATGATCTCACCTCCTTCCTGGCTTCTGCATATGCTGTTCCCTCTACCTGGAACACTTTCTCCTGCCTTACCTAAACTTCCTATGCATCATTTACTCTTCACTCAGTTCAGGGATACTCATGGGTCACCCAACTCACCTTCTGTGGGACCTGGAACCCCCCAACCGGATCCCTACAGCCCGATATCCTACAAACACTGCCAATGTGACGTATGTCTTCCCTGCCACATTGGGAGCCGGGGGCCTGGGTCTGACTATCCTCTAGCCTCACAGTTGTCTGCGAATGAAGCAGCATGCCTGCGTGCAGCACGGGAAACTACTGCCTTCAGGCAGCCAGTTGAGCTCTCGAGAACGTCCCTCTTCCCGCCCAGTCCCGCGAGCCCGGGTGGCACCTGATAGGTGATCTTGGGTCCCAGCGTGGGGTGGAACTCGCTGAAGAATATGCATTCGATGCGGCAGCCGCTGCCCATGGCAATAACCGGGCCCAGGCCCGTAGCTCCTCGTTCCTCGCGCAGAGGCGTCCCCACCTCCTGTGAACACTTGTCAGAGACAGCCTCGAGGCCTGTGTCGCTGGGGCACGCAAGCTTGCCAATCCCTCTGCCCAATGGCGCCTGCGCAGCGCGACTCAGAGGCGTGGCTGGGGCGGGGGACGGCTCGTCCCAGGAAGTCCTGGGTGGGTAGACGTCGCACCCGGAAGTAAAGCGGCTCCGTGACGGAGCGGCGGTGCGCGCGGCAGGGCCCGGAGTATCCCGCTTTCTTTGGAGGAAACCACCGCATCAGATCTGCGCTGCGGCAGAGGCAGGCAAGTCCCTAGCGTGGAGGGGCAGCATGCTGGCAGCACTTGGGGAGGCGGTGCGCTAAGGGATTCACGCTGTAACTGGGACCGCAGCAGGGAACTACAATTTCCATAGTGCTCCGCGCCCTCCCAGCTGGCTCTACTGCCGGCGACGGCGTGGTACACGCTGGGATTTGTAGTCTTACATGGCTTTGCGCCTCCTACCTGGAAGGCGGGCCAGCGATTGGTACCAGTTCAGACATGGGTACACGTTGACAGGCCGCCGGCCGTCGACTGGCATGTTGTGACCATTCCTGGTGCTGGTCTTGGTACTGTTCTTTCCTACCATAACTTATTGGAAGAGGGTGGCATTCCTGCCTTGCAGCCTTTTCTCCAGTGAGGAGTGAACAGTGGGCACCTGAGATCCTGGCCCACGCTACTATGCTTTCAGGCTACAACCACTAGCACGGCTGACGATGGCCCTTTCTGCGGAGACCGAGTCACACATCTACCGAGCTCTGCGTACTGCTTCTGGCGCTGCCGCCCACCTTGTGGCCCTGGGCTTTACCATCTTTGTGGCTGTGCTTGCCAGGCCTGGCTCCAGTAAGTAGAATTCATAGCTGACTTCTGGGAAGGGAAGGGCCACTGTTCCTGGGGAGGAAGGGCAGTGGGACTTCCGGGAACAGGCCTGGCTGGTTGAGGGAATTCTGTGCTGGAGCGATGAGTGAGGTGGAGCAGGTAGGTATGGCCAGGGCACACAGAATTCCTGGTTTGTCTTTC
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AAGCCGCTCATCCAGCTCATGGTAGCTCATGCCTGGGTGGGGTGGTGGAGGAGAGGTCAGTGGCCTTGGCCTGGCCACCCTGCCCTGAACCCACCCTGACTGCCCGCCTGCCTCCACCTGTCTTGCAGCAGATCTCGTCATAGCTGTGGCAGCCTGTATAAAGCCGGGCAGGGTGGCTCTGCTCTTCCCGAGTCACCCGCACAGGATACTTCTGTAGTCGCCTGATGAGGTTCTTCATAAGCCCGAACTGGATCAGCTTCCTAGGGTGAGGATCAGAGGACGGGGTGACGCCCTGGCCAGGCCTTCTTTCAGGCAGGCCAACCCTTTCCTGTAGTCTCCCTTCAATTTTGTCTCTGTAGCCCATCATCTCCAGGAAGCCTGCTTGGATTGGCAGTGCCCCATGATCCAGGGCTCCTGAGAGACATAAAGGGTCTAGCTTCCCTCAGGTAACTCCCAAATGCCCCAGCAAATTCTCCTCTGACCGTTCATCAACATGCTGCAGCTGCTGGGGGTGGCGGCCAATGAGGTCTCGCACGGTAGTGCCAGGGCTCAGGCTGCAGTATAGCTGGAACACATCCCGGAGACTGGCCCTCTTGTGCCCTGTGGGTGCCAGGGATCAGCTCATCATGTGGCCCTGCCCTCCCCAAGATGGCTTCCCCCAGAACCCACCACTACCTTGCTTGGTCACGTAGGATAGACATGCCTCTTGCAGGGACTTGTCATCTACCAGGTCCTGGACCTTGGGCGTTGGGCAGTATACATTGGAGTACTAGAGGGTAGCAGAAGGCATAGGGGCCTGAGTGAGGGGCTTGGGAAGCTGACACAGCCCTGGTCTGGTCCAGCCACATGATCCACTCTCCACTTAACCAAACCCAACTCACCTACCTGGAGGATGGACACCAGTGTCACAACGCCGTAGTACCTGAGAGAGAGAGCTGTGCTCAGCTTCTGAGGACCATGCCTTCCCAACCCTCACACCCAGGGCCCCTGAGGTCTTCCCTGGCTGGTGACCTTGTCCCAGGTATGACTGTAGGCCCACTCACAGCAGGTTCTGGATAGCAATGCGCACCAGGTTGAGCTCCACATCTGCCTCTGCTGAAATCTTCTGGATGTGGCGGAACCCATCAATGTAGGGCAGGATCTGGGCAGAGTGGGACAAGGTCAGAAGAAACAGGATGAGGCCAGGGCTGTGGCCAGCCCCAGGTGATGATACCCAGGGAGGGATGGCATACTTGTTGTGTAGTGAGGTCCCACTGTGAGTTGAAGAAATCCTCCTTGTCTTTGGTAAAGACAGGTACATCATACTCCTGGGCCACCGGAGGGTCTGGCCGCTGCTCAATCACCTTCAAGTGGATGGTGTTGGACTCATCTGCAGGGGGCCCCATCCATATCCTCAGTGCCACTTCTTCCAAGAGGTCCTCAATTACCATCCAGGCCTCCCAGCATCCCTTGGGGCAAGCAGGTGCCTCTGGGTAGGGCTAATCTTTCTCTTTTTATGGAGTGAGAAACGGAGGCCCACAAAGGGGAAGGAATTGCCCAAGGGGCAGAGCTGGAGAGCTCTGCTTTCCCCCTACCCCCAGTCCCAGCTCCATCATGCATTGGACCCTGGACATGGGCACCTCAGCCCATGGCTATTTCCTGCCCACCAATGTGTTCATGAGTCTTGCCCTTCTCCCTGACTAGCTGGGTTCACTTTCCCATCTCTCCTCTACCCCTCTGCTGTCCTTGCAGAGGCTGGCCATACCAATGGGCAGAGTGCACCGGCCTGAGGCATTTAGCTCCTCCAGCAAGATGGTCATGATGGGCACCAACTTCTGCTTGCTCTCCTCCATGGACACGAAGCTGCTCTCTAGCTAGACAGAGCATGGAAAGCATGGTGGGCACATCCCAGGACCCCTGGCTGGTTGGCTGCCCTGAGTCCTGAGCTGGTTTGCAGGGTCCCAGGTTTGGGGGACTTTGGAGACATGGGAACACCTTCCCCAACTCTGCCTGTCGGTAAACCCAAGCCCATCTCATTGCAGACCTCTAGTGTGGTCAGATAGCCAGCCGGCTTTTTAACAATGGGCTCGAGGGCGCAGGTCTTGGCCTGGGCATCACACACGAAGCCCAGGTTGAAGAGGAGAGCATTGCGGCTGTACTTCTTGTGTTCGATGCACACAGGACAGCCGATCAGCTTCTTTTCCATAGCTGTGCTGGATAATTGGAACACAGTCAGGCCCCCAAGCCTGTCCCTTCCTCCTCCTGGGACAACCCCTGCCACCCACCGCTCACCCCGAGCTAGGGTCTCACACAGTGATAAGCTTGTTCTGCAGCTCTGGCTTGGTGATGATGTACACTTGGACTGTGTCAAACAGCTCTCGGGAGATGAAGTCTTCAGGGACCTGGGGAGGGGAGTGGCAATGGGCCCCTCAGTGGACATCTGTACTGGGTGTAGTACAAATGGTGACCTCCTCATGCCCCCCAAGCCCAAGTCCTCTTCTCCAGCGTTCCCCTCTCTCCCATCCACTCAGGCCTATTACTTCTTTCTGTTTCCAAACATACGCTATGATCTCACCTCCTTCCTGGCTTCTGCATATGCTGTTCCCTCTACCTGGAACACTTTCTCCTGCCTTACCTAAACTTCCTATGCATCATTTACTCTTCACTCAGTTCAGGGATACTCATGGGTCACCCAACTCACCTTCTGTGGGACCTGGAACCCCCCAACCGGATCCCTACAGCCCGATATCCTACAAACACTGCCAATGTGACGTATGTCTTCCCTGCCACATTGGGAGCCGGGGGCCTGGGTCTGACTATCCTCTAGCCTCACAGTTGTCTGCGAATGAAGCAGCATGCCTGCGTGCAGCACGGGAAACTACTGCCTTCAGGCAGCCAGTTGAGCTCTCGAGAACGTCCCTCTTCCCGCCCAGTCCCGCGAGCCCGGGTGGCACCTGATAGGTGATCTTGGGTCCCAGCGTGGGGTGGAACTCGCTGAAGAATATGCATTCGATGCGGCAGCCGCTGCCCATGGCAATAACCGGGCCCAGGCCCGTAGCTCCTCGTTCCTCGCGCAGAGGCGTCCCCACCTCCTGTGAACACTTGTCAGAGACAGCCTCGAGGCCTGTGTCGCTGGGGCACGCAAGCTTGCCAATCCCTCTGCCCAATGGCGCCTGCGCAGCGCGACTCAGAGGCGTGGCTGGGGCGGGGGACGGCTCGTCCCAGGAAGTCCTGGGTGGGTAGACGTCGCACCCGGAAGTAAAGCGGCTCCGTGACGGAGCGGCGGTGCGCGCGGCAGGGCCCGGAGTATCCCGCTTTCTTTGGAGGAAACCACCGCATCAGATCTGCGCTGCGGCAGAGGCAGGCAAGTCCCTAGCGTGGAGGGGCAGCATGCTGGCAGCACTTGGGGAGGCGGTGCGCTAAGGGATTCACGCTGTAACTGGGACCGCAGCAGGGAACTACAATTTCCATAGTGCTCCGCGCCCTCCCAGCTGGCTCTACTGCCGGCGACGGCGTGGTACACGCTGGGATTTGTAGTCTTACATGGCTTTGCGCCTCCTACCTGGAAGGCGGGCCAGCGATTGGTACCAGTTCAGACATGGGTACACGTTGACAGGCCGCCGGCCGTCGACTGGCATGTTGTGACCATTCCTGGTGCTGGTCTTGGTACTGTTCTTTCCTACCATAACTTATTGGAAGAGGGTGGCATTCCTGCCTTGCAGCCTTTTCTCCAGTGAGGAGTGAACAGTGGGCACCTGAGATCCTGGCCCACGCTACTATGCTTTCAGGCTACAACCACTAGCACGGCTGACGATGGCCCTTTCTGCGGAGACCGAGTCACACATCTACCGAGCTCTGCGTACTGCTTCTGGCGCTGCCGCCCACCTTGTGGCCCTGGGCTTTACCATCTTTGTGGCTGTGCTTGCCAGGCCTGGCTCCAGTAAGTAGAATTCATAGCTGACTTCTGGGAAGGGAAGGGCCACTGTTCCTGGGGAGGAAGGGCAGTGGGACTTCCGGGAACAGGCCTGGCTGGTTGAGGGAATTCTGTGCTGGAGCGATGAGTGAGGTGGAGCAGGTAGGTATGGCCAGGGCACACAGAATTCCTGGTTTGTCTTTC
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Task1_train_7058
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The gene CACNA2D2, CYB561D2, LOC127898564 (calcium voltage-gated channel auxiliary subunit alpha2delta 2| cytochrome b561 family member D2| CYB561D2-LOC101928965) on Chromosome 3 contains a mutation. Based on this information, is the variant pathogenic or benign? Provide the disease if relevant.
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Pathogenic; Cerebellar atrophy with seizures and variable developmental delay
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CTGTTTTTTAAACTTAAAATATATATTTTTCTGTATATGTTTATATTCTCCATTGAGCACCTGACTACACTACAGTTACACGCACGCCCCCGAAGGACACAGCTGGCATCCAGGCCGGGTGCACATGGACACCCACCCTGGCACCAGCAGTGGGCATGGACCACACACACACACTGAGAAAGCGACAAGCAACATGACATTAATTAACGAAGCCATTAATTAATGCATCACCCTCCCCCTCCTCCCAGTCCATCTGAGCCCCATCACTATATCCCCTTGCCCTCAGTTCCCCACTGGCCCCCAGGCTGGGATGCCTTTGGGGGAAATGACCAGAATGAATGGTGTGAAGAGCTGTGCCCAGTCCCCACCTGTGTGTGTGTGTGTGTGTGTGTGTTCAGCAAGGGAGGGACAGTTTGGCCTCCTGCAAGCAGGGAGTGTGTGTGTAGGGGTGGGAAGGAGATAGGGAGTGGGCACAGGCCTGAGTGTGTAAGGGCCAGATTGGCGGAAGGATGGCCCAGCCAGGAGAGACAAAGTCACCCCTGCTAAGGCAAAGGGTGATGTCTGGTGGGGGTTCCTCTGCCGAAAGGTGCAGGCAGTGGCATGTGGTCCCACTGGGGGCCTGACACTAGTGAGAAATGGTTACAATGAGCACCTGGAGAGGTGAGGGGGCACTTGGAGGACACTGGTGGCTAGGGGTGGGACAGAGGGTTCTTCACCCCCTGCCCCAGCATTTGGCACTGTTTGACATTCAGCTTTAGAAATGGGAGGACCAGCCAGGCTGCAGCTCAGATTAGAGGCAGGTGGTGAGCAGGAGATGGAGTGTGCAGGTGCCAACCCTCCCACCAACCCCTCGCCCTGTGTAAGGCTTTGTAAGCCCCTACACCCACCCCACCCCATAGTGTGTGTGTTTGTGCGTGTGCCCAGTGGGGTATGTCGAATGTGAGTCCAGTTTCCATCCTCAATGTTCCAGGTGTATATGGGGTAGTGTCTGAACTGGTATCACTGTGACTATCCTGACACCTGGTGGGCTTGGGGATGTGGCTGTAGGCCTGAAAGGGGCAGGAGCCCATGGGGGCTGCCCCAGAGCCTCTCTCCTGCTAGGATTTAAGCTGGGAGGCACAGGCTTCAAACTGGCCATCTCACCTTCCTCCACTATTCTCACAGAAACCAAGTTTGGGCTTGGGTGGGGCAGAGAGGCCGGGTCAGCTGAGGCAGGGTCCCCCCCAACATAGGCAGCCTCCAGGAAGGGCGGCAGCAGAGGCCTGGTTTTGGCACCAGTGCGTGTGGCCTCCCTGTCCCATCCCACTGGGGGGAGCCCAGCAGGCAAGAAGGGTCTGGGGACACTTGAACAGTTCGGAGGTGAGATGTGATTTGGGTGCCAAACACCTGCGGCGTCCCGCTTTGGGACTCCCCATCCCAAGGCGCAGACCAGACTCTCAGGGCCTGGCCAGCTCAGGTCCTTCAGTGAGGGAGGGACGAGGCTCTAAGGCGGGGAGTGTGGGGCAGGAGGGTGGGAAAGGCGAAGAGGCCGGGTGAGGTGGGAGTGGAGGTGGGGTGGGGCAGGGTGCTCAGAGGCGGCGAGAGGCGTGGACGAGGACTTGAGGCTGCGGCCGGGGCGGCAGGCCCAGGAGGAGCAGCAGTTGCAGGGAGACCAGGACGCCCAGCGACGGCGGGAAGGAGGCCCCGCGGCCACAGTCTGAGGTATCTTCCTGCGGGGAGAGACAAGGAGCTGGTCGGCCTGGGCGGGCGCAAGGCCGCGGGATTTCGGGTCCACCGCCCCCTCTCCTCACTGTCGCGTTGTAGTCGAAGCAGATGTGCGGGCCTCTCCGGTATCGCGGTCTCTGCACTAGCTCACACTGCTCCGGGCCGTCCGCTGGGCATGGGTGGGGAGTCAAGGAGGCGGACGGCGGCGGCGGCACGGAGGGGGCGCGCGGGGCAGAGGGGGAGCGGGCGGCGGGGAGGGCGGGGGCAGGATACAGTGCGTCTCCTTCTGCAGCAGCCGGCCAGCCTCGCACTGGCTGCACAGCGGCTTCTCGGCCACCACAAAGAGAAGATTGGTGTTGGTCAGTCTCTGCGCGTGGAACAGCCTGCGGGCAGCCCGGAAAGGCGGGGCGTTGAGTTTGCCCCGCCCTGACCCACCCCCATCCTGCGGCCCCGCCCCCGGCCGCTCGGAGGCCCCGCCCCTTCCATCCTCCCGAGCGTCTCGCCCCGCTCACAGGTTCCGCCCTTGGCCTCTGGTCCCGCCCCACTGCCAGCACCTGGAGCAGTTTCCGCAGTCGATGATGGCGTTGTAGGAGGCGTTTACCGAGCCGAAGTAGTACTGGGTCTGTTTCATGACGCAGCTGCTCTCGCGCGTCTCGGGGCTCCCCTCGGCCTCCGCGGGGTCTGCGAGGGCCCAGAGCGCCTCAGCTCCGCCCACAGACCCTGGCAAGGTCTCCGGCCTCCCTCAGTCGTAGACCCCACCCTCCCCATGGAGTCGTCTTAGCTCAGATTGGGGACCCGGACTTGAGGAGGCGCCTCCAAAGCCCTACCTACCTGCTTGGAACCAGCTGTGGTAGATGAGGCCGTAGAGAAGCTGCTGGAACAGGGACCTGCAGCGCACGGGGAGCCGAGTGCAGGTGGTCAGCAGAGGACGATGCCATGCCCTACTTCTCTTCTGAGCCCTCCCGGCCAGGGAGCACCTTCTCTACCCACCTCCCGCTCAGGACTCACCAGGCGGCAGCAGAGGTCCACCAGGCCAGGTTAAGGAAATCTGCAACGGTGGGCTGCAGTGGAGAGAGGGGCGTGGACTGCCACTGCTGCCCCTCGCCCTAGGTCACCCCCAGCTTTATCAAATGTCAGAGGTAGGGGGTCATCTGTGGGCAGGTCTCCCAGTCCCCCCCATCTCCAGTCCAGGCATCTCTGGGGACTCACCACAAAGACACCCCGGGGTGCAGCACCCAGGTTGCCAGGGGGCTGAGGGGCACAGGCTGCCTGATAGTCATAGGACTCCTTGCGGGTGTAGAAGGAGTTATTGTAGAGTGCCAGCATCAGGTTGGCATCCACCTCACTGAAGAACCTGCCCACCTGAGGATGTCAGGAGAAAGCCATGGTCACAGGGCTGGCAGTGCTACACCCCTAGAAGGCTCAAATCCCTACTCTCTTCTTTCACTCTCTTCCTGATCCTCACCTGGTCCCACTGATGGTTCTGGTTTGACAGCACCAGGAATCCTCCATCATCAATGAGGACACAGAGTAAGTCCTAGGAGGAAGGGAATGGGGAGGAAAATGGAGAGGGGCTGGGCCCCGGACCTTCCACCGCAGGCAGTCCAGTGGTTCAGAGTTGGGGGGCATCACTCCCCCAGTCCTGGGAAGGCTGTGAAGTCAGGGTGGGGATGTTGAGACCCACAGGCCAAGGGATGTGCTGGGAGTCGCGGCTGGGACTAGGAAGTCTGGAAGTGGGGTAAGCTAGGGTCCAGGGTAGGTTCAGGGCACACACACCTCATTGTTAACCTCGCAGTCCATCTCACAGTGGCTGTTGGGGCCGCACTGCTGGGCAGAGAGTGAGGACCGTAAGCCACCCACCAGTTTTCCTCCCTCCCATCACCTTTCATACATCCGGTTCCCCAGGCCATCTGCAGCTGGCCCTGCCTCCATGTAGGTGTTGGAGCCACTGAGTGGAGGGTTGGTGGGGGTTCCAGGGGACTCCAGGAAGGGCACTGCTGGGTTACTGCCCCCGCCCCTGCCCAAATACCTTCTGAGGCTGGTCTTGGTGGGTACGGTTGCTGGCTAGCACCTTGAACTTCTCAGCCCAAGCCTCTAGGTCCAGCTTGACGCCCACCACTTTGGGGGAGAGCAAGGGACCATCAGTGCTACCTGCCCAGGCAGTACCCTGTCCATTGCCTGTTTCCCCACCTCTGTCCCAAACATTCACCTGCTGGCCTCAGTGTGCGCCTGCCTAGGCTGAGCTCCACAGCTGTGCTGACGAGGATGCCCACAGTGTCATTCTCCAGCTCCAGCGGCCTTAACAGGGCTGGGGGTTGGGTGGGGAAGTCAGGAGTGGGGTCTGGCGGCCACACTGACCACTCTATGCTGGGTCCTACAAACCCAGCAGTCC
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CTGTTTTTTAAACTTAAAATATATATTTTTCTGTATATGTTTATATTCTCCATTGAGCACCTGACTACACTACAGTTACACGCACGCCCCCGAAGGACACAGCTGGCATCCAGGCCGGGTGCACATGGACACCCACCCTGGCACCAGCAGTGGGCATGGACCACACACACACACTGAGAAAGCGACAAGCAACATGACATTAATTAACGAAGCCATTAATTAATGCATCACCCTCCCCCTCCTCCCAGTCCATCTGAGCCCCATCACTATATCCCCTTGCCCTCAGTTCCCCACTGGCCCCCAGGCTGGGATGCCTTTGGGGGAAATGACCAGAATGAATGGTGTGAAGAGCTGTGCCCAGTCCCCACCTGTGTGTGTGTGTGTGTGTGTGTGTTCAGCAAGGGAGGGACAGTTTGGCCTCCTGCAAGCAGGGAGTGTGTGTGTAGGGGTGGGAAGGAGATAGGGAGTGGGCACAGGCCTGAGTGTGTAAGGGCCAGATTGGCGGAAGGATGGCCCAGCCAGGAGAGACAAAGTCACCCCTGCTAAGGCAAAGGGTGATGTCTGGTGGGGGTTCCTCTGCCGAAAGGTGCAGGCAGTGGCATGTGGTCCCACTGGGGGCCTGACACTAGTGAGAAATGGTTACAATGAGCACCTGGAGAGGTGAGGGGGCACTTGGAGGACACTGGTGGCTAGGGGTGGGACAGAGGGTTCTTCACCCCCTGCCCCAGCATTTGGCACTGTTTGACATTCAGCTTTAGAAATGGGAGGACCAGCCAGGCTGCAGCTCAGATTAGAGGCAGGTGGTGAGCAGGAGATGGAGTGTGCAGGTGCCAACCCTCCCACCAACCCCTCGCCCTGTGTAAGGCTTTGTAAGCCCCTACACCCACCCCACCCCATAGTGTGTGTGTTTGTGCGTGTGCCCAGTGGGGTATGTCGAATGTGAGTCCAGTTTCCATCCTCAATGTTCCAGGTGTATATGGGGTAGTGTCTGAACTGGTATCACTGTGACTATCCTGACACCTGGTGGGCTTGGGGATGTGGCTGTAGGCCTGAAAGGGGCAGGAGCCCATGGGGGCTGCCCCAGAGCCTCTCTCCTGCTAGGATTTAAGCTGGGAGGCACAGGCTTCAAACTGGCCATCTCACCTTCCTCCACTATTCTCACAGAAACCAAGTTTGGGCTTGGGTGGGGCAGAGAGGCCGGGTCAGCTGAGGCAGGGTCCCCCCCAACATAGGCAGCCTCCAGGAAGGGCGGCAGCAGAGGCCTGGTTTTGGCACCAGTGCGTGTGGCCTCCCTGTCCCATCCCACTGGGGGGAGCCCAGCAGGCAAGAAGGGTCTGGGGACACTTGAACAGTTCGGAGGTGAGATGTGATTTGGGTGCCAAACACCTGCGGCGTCCCGCTTTGGGACTCCCCATCCCAAGGCGCAGACCAGACTCTCAGGGCCTGGCCAGCTCAGGTCCTTCAGTGAGGGAGGGACGAGGCTCTAAGGCGGGGAGTGTGGGGCAGGAGGGTGGGAAAGGCGAAGAGGCCGGGTGAGGTGGGAGTGGAGGTGGGGTGGGGCAGGGTGCTCAGAGGCGGCGAGAGGCGTGGACGAGGACTTGAGGCTGCGGCCGGGGCGGCAGGCCCAGGAGGAGCAGCAGTTGCAGGGAGACCAGGACGCCCAGCGACGGCGGGAAGGAGGCCCCGCGGCCACAGTCTGAGGTATCTTCCTGCGGGGAGAGACAAGGAGCTGGTCGGCCTGGGCGGGCGCAAGGCCGCGGGATTTCGGGTCCACCGCCCCCTCTCCTCACTGTCGCGTTGTAGTCGAAGCAGATGTGCGGGCCTCTCCGGTATCGCGGTCTCTGCACTAGCTCACACTGCTCCGGGCCGTCCGCTGGGCATGGGTGGGGAGTCAAGGAGGCGGACGGCGGCGGCGGCACGGAGGGGGCGCGCGGGGCAGAGGGGGAGCGGGCGGCGGGGAGGGCGGGGGCAGGATACAGTGCGTCTCCTTCTGCAGCAGCCGGCCAGCCTCGCACTGGCTGCACAGCGGCTTCTCGGCCACCACAAAGGGAAGATTGGTGTTGGTCAGTCTCTGCGCGTGGAACAGCCTGCGGGCAGCCCGGAAAGGCGGGGCGTTGAGTTTGCCCCGCCCTGACCCACCCCCATCCTGCGGCCCCGCCCCCGGCCGCTCGGAGGCCCCGCCCCTTCCATCCTCCCGAGCGTCTCGCCCCGCTCACAGGTTCCGCCCTTGGCCTCTGGTCCCGCCCCACTGCCAGCACCTGGAGCAGTTTCCGCAGTCGATGATGGCGTTGTAGGAGGCGTTTACCGAGCCGAAGTAGTACTGGGTCTGTTTCATGACGCAGCTGCTCTCGCGCGTCTCGGGGCTCCCCTCGGCCTCCGCGGGGTCTGCGAGGGCCCAGAGCGCCTCAGCTCCGCCCACAGACCCTGGCAAGGTCTCCGGCCTCCCTCAGTCGTAGACCCCACCCTCCCCATGGAGTCGTCTTAGCTCAGATTGGGGACCCGGACTTGAGGAGGCGCCTCCAAAGCCCTACCTACCTGCTTGGAACCAGCTGTGGTAGATGAGGCCGTAGAGAAGCTGCTGGAACAGGGACCTGCAGCGCACGGGGAGCCGAGTGCAGGTGGTCAGCAGAGGACGATGCCATGCCCTACTTCTCTTCTGAGCCCTCCCGGCCAGGGAGCACCTTCTCTACCCACCTCCCGCTCAGGACTCACCAGGCGGCAGCAGAGGTCCACCAGGCCAGGTTAAGGAAATCTGCAACGGTGGGCTGCAGTGGAGAGAGGGGCGTGGACTGCCACTGCTGCCCCTCGCCCTAGGTCACCCCCAGCTTTATCAAATGTCAGAGGTAGGGGGTCATCTGTGGGCAGGTCTCCCAGTCCCCCCCATCTCCAGTCCAGGCATCTCTGGGGACTCACCACAAAGACACCCCGGGGTGCAGCACCCAGGTTGCCAGGGGGCTGAGGGGCACAGGCTGCCTGATAGTCATAGGACTCCTTGCGGGTGTAGAAGGAGTTATTGTAGAGTGCCAGCATCAGGTTGGCATCCACCTCACTGAAGAACCTGCCCACCTGAGGATGTCAGGAGAAAGCCATGGTCACAGGGCTGGCAGTGCTACACCCCTAGAAGGCTCAAATCCCTACTCTCTTCTTTCACTCTCTTCCTGATCCTCACCTGGTCCCACTGATGGTTCTGGTTTGACAGCACCAGGAATCCTCCATCATCAATGAGGACACAGAGTAAGTCCTAGGAGGAAGGGAATGGGGAGGAAAATGGAGAGGGGCTGGGCCCCGGACCTTCCACCGCAGGCAGTCCAGTGGTTCAGAGTTGGGGGGCATCACTCCCCCAGTCCTGGGAAGGCTGTGAAGTCAGGGTGGGGATGTTGAGACCCACAGGCCAAGGGATGTGCTGGGAGTCGCGGCTGGGACTAGGAAGTCTGGAAGTGGGGTAAGCTAGGGTCCAGGGTAGGTTCAGGGCACACACACCTCATTGTTAACCTCGCAGTCCATCTCACAGTGGCTGTTGGGGCCGCACTGCTGGGCAGAGAGTGAGGACCGTAAGCCACCCACCAGTTTTCCTCCCTCCCATCACCTTTCATACATCCGGTTCCCCAGGCCATCTGCAGCTGGCCCTGCCTCCATGTAGGTGTTGGAGCCACTGAGTGGAGGGTTGGTGGGGGTTCCAGGGGACTCCAGGAAGGGCACTGCTGGGTTACTGCCCCCGCCCCTGCCCAAATACCTTCTGAGGCTGGTCTTGGTGGGTACGGTTGCTGGCTAGCACCTTGAACTTCTCAGCCCAAGCCTCTAGGTCCAGCTTGACGCCCACCACTTTGGGGGAGAGCAAGGGACCATCAGTGCTACCTGCCCAGGCAGTACCCTGTCCATTGCCTGTTTCCCCACCTCTGTCCCAAACATTCACCTGCTGGCCTCAGTGTGCGCCTGCCTAGGCTGAGCTCCACAGCTGTGCTGACGAGGATGCCCACAGTGTCATTCTCCAGCTCCAGCGGCCTTAACAGGGCTGGGGGTTGGGTGGGGAAGTCAGGAGTGGGGTCTGGCGGCCACACTGACCACTCTATGCTGGGTCCTACAAACCCAGCAGTCC
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Task1_train_7059
|
This sequence variant lies in CACNA2D2, LOC127898564 (calcium voltage-gated channel auxiliary subunit alpha2delta 2| CYB561D2-LOC101928965) on Chromosome 3. Is it clinically significant, and what condition might it cause if any?
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Pathogenic; Cerebellar atrophy with seizures and variable developmental delay
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ATATATATTTTTCTGTATATGTTTATATTCTCCATTGAGCACCTGACTACACTACAGTTACACGCACGCCCCCGAAGGACACAGCTGGCATCCAGGCCGGGTGCACATGGACACCCACCCTGGCACCAGCAGTGGGCATGGACCACACACACACACTGAGAAAGCGACAAGCAACATGACATTAATTAACGAAGCCATTAATTAATGCATCACCCTCCCCCTCCTCCCAGTCCATCTGAGCCCCATCACTATATCCCCTTGCCCTCAGTTCCCCACTGGCCCCCAGGCTGGGATGCCTTTGGGGGAAATGACCAGAATGAATGGTGTGAAGAGCTGTGCCCAGTCCCCACCTGTGTGTGTGTGTGTGTGTGTGTGTTCAGCAAGGGAGGGACAGTTTGGCCTCCTGCAAGCAGGGAGTGTGTGTGTAGGGGTGGGAAGGAGATAGGGAGTGGGCACAGGCCTGAGTGTGTAAGGGCCAGATTGGCGGAAGGATGGCCCAGCCAGGAGAGACAAAGTCACCCCTGCTAAGGCAAAGGGTGATGTCTGGTGGGGGTTCCTCTGCCGAAAGGTGCAGGCAGTGGCATGTGGTCCCACTGGGGGCCTGACACTAGTGAGAAATGGTTACAATGAGCACCTGGAGAGGTGAGGGGGCACTTGGAGGACACTGGTGGCTAGGGGTGGGACAGAGGGTTCTTCACCCCCTGCCCCAGCATTTGGCACTGTTTGACATTCAGCTTTAGAAATGGGAGGACCAGCCAGGCTGCAGCTCAGATTAGAGGCAGGTGGTGAGCAGGAGATGGAGTGTGCAGGTGCCAACCCTCCCACCAACCCCTCGCCCTGTGTAAGGCTTTGTAAGCCCCTACACCCACCCCACCCCATAGTGTGTGTGTTTGTGCGTGTGCCCAGTGGGGTATGTCGAATGTGAGTCCAGTTTCCATCCTCAATGTTCCAGGTGTATATGGGGTAGTGTCTGAACTGGTATCACTGTGACTATCCTGACACCTGGTGGGCTTGGGGATGTGGCTGTAGGCCTGAAAGGGGCAGGAGCCCATGGGGGCTGCCCCAGAGCCTCTCTCCTGCTAGGATTTAAGCTGGGAGGCACAGGCTTCAAACTGGCCATCTCACCTTCCTCCACTATTCTCACAGAAACCAAGTTTGGGCTTGGGTGGGGCAGAGAGGCCGGGTCAGCTGAGGCAGGGTCCCCCCCAACATAGGCAGCCTCCAGGAAGGGCGGCAGCAGAGGCCTGGTTTTGGCACCAGTGCGTGTGGCCTCCCTGTCCCATCCCACTGGGGGGAGCCCAGCAGGCAAGAAGGGTCTGGGGACACTTGAACAGTTCGGAGGTGAGATGTGATTTGGGTGCCAAACACCTGCGGCGTCCCGCTTTGGGACTCCCCATCCCAAGGCGCAGACCAGACTCTCAGGGCCTGGCCAGCTCAGGTCCTTCAGTGAGGGAGGGACGAGGCTCTAAGGCGGGGAGTGTGGGGCAGGAGGGTGGGAAAGGCGAAGAGGCCGGGTGAGGTGGGAGTGGAGGTGGGGTGGGGCAGGGTGCTCAGAGGCGGCGAGAGGCGTGGACGAGGACTTGAGGCTGCGGCCGGGGCGGCAGGCCCAGGAGGAGCAGCAGTTGCAGGGAGACCAGGACGCCCAGCGACGGCGGGAAGGAGGCCCCGCGGCCACAGTCTGAGGTATCTTCCTGCGGGGAGAGACAAGGAGCTGGTCGGCCTGGGCGGGCGCAAGGCCGCGGGATTTCGGGTCCACCGCCCCCTCTCCTCACTGTCGCGTTGTAGTCGAAGCAGATGTGCGGGCCTCTCCGGTATCGCGGTCTCTGCACTAGCTCACACTGCTCCGGGCCGTCCGCTGGGCATGGGTGGGGAGTCAAGGAGGCGGACGGCGGCGGCGGCACGGAGGGGGCGCGCGGGGCAGAGGGGGAGCGGGCGGCGGGGAGGGCGGGGGCAGGATACAGTGCGTCTCCTTCTGCAGCAGCCGGCCAGCCTCGCACTGGCTGCACAGCGGCTTCTCGGCCACCACAAAGAGAAGATTGGTGTTGGTCAGTCTCTGCGCGTGGAACAGCCTGCGGGCAGCCCGGAAAGGCGGGGCGTTGAGTTTGCCCCGCCCTGACCCACCCCCATCCTGCGGCCCCGCCCCCGGCCGCTCGGAGGCCCCGCCCCTTCCATCCTCCCGAGCGTCTCGCCCCGCTCACAGGTTCCGCCCTTGGCCTCTGGTCCCGCCCCACTGCCAGCACCTGGAGCAGTTTCCGCAGTCGATGATGGCGTTGTAGGAGGCGTTTACCGAGCCGAAGTAGTACTGGGTCTGTTTCATGACGCAGCTGCTCTCGCGCGTCTCGGGGCTCCCCTCGGCCTCCGCGGGGTCTGCGAGGGCCCAGAGCGCCTCAGCTCCGCCCACAGACCCTGGCAAGGTCTCCGGCCTCCCTCAGTCGTAGACCCCACCCTCCCCATGGAGTCGTCTTAGCTCAGATTGGGGACCCGGACTTGAGGAGGCGCCTCCAAAGCCCTACCTACCTGCTTGGAACCAGCTGTGGTAGATGAGGCCGTAGAGAAGCTGCTGGAACAGGGACCTGCAGCGCACGGGGAGCCGAGTGCAGGTGGTCAGCAGAGGACGATGCCATGCCCTACTTCTCTTCTGAGCCCTCCCGGCCAGGGAGCACCTTCTCTACCCACCTCCCGCTCAGGACTCACCAGGCGGCAGCAGAGGTCCACCAGGCCAGGTTAAGGAAATCTGCAACGGTGGGCTGCAGTGGAGAGAGGGGCGTGGACTGCCACTGCTGCCCCTCGCCCTAGGTCACCCCCAGCTTTATCAAATGTCAGAGGTAGGGGGTCATCTGTGGGCAGGTCTCCCAGTCCCCCCCATCTCCAGTCCAGGCATCTCTGGGGACTCACCACAAAGACACCCCGGGGTGCAGCACCCAGGTTGCCAGGGGGCTGAGGGGCACAGGCTGCCTGATAGTCATAGGACTCCTTGCGGGTGTAGAAGGAGTTATTGTAGAGTGCCAGCATCAGGTTGGCATCCACCTCACTGAAGAACCTGCCCACCTGAGGATGTCAGGAGAAAGCCATGGTCACAGGGCTGGCAGTGCTACACCCCTAGAAGGCTCAAATCCCTACTCTCTTCTTTCACTCTCTTCCTGATCCTCACCTGGTCCCACTGATGGTTCTGGTTTGACAGCACCAGGAATCCTCCATCATCAATGAGGACACAGAGTAAGTCCTAGGAGGAAGGGAATGGGGAGGAAAATGGAGAGGGGCTGGGCCCCGGACCTTCCACCGCAGGCAGTCCAGTGGTTCAGAGTTGGGGGGCATCACTCCCCCAGTCCTGGGAAGGCTGTGAAGTCAGGGTGGGGATGTTGAGACCCACAGGCCAAGGGATGTGCTGGGAGTCGCGGCTGGGACTAGGAAGTCTGGAAGTGGGGTAAGCTAGGGTCCAGGGTAGGTTCAGGGCACACACACCTCATTGTTAACCTCGCAGTCCATCTCACAGTGGCTGTTGGGGCCGCACTGCTGGGCAGAGAGTGAGGACCGTAAGCCACCCACCAGTTTTCCTCCCTCCCATCACCTTTCATACATCCGGTTCCCCAGGCCATCTGCAGCTGGCCCTGCCTCCATGTAGGTGTTGGAGCCACTGAGTGGAGGGTTGGTGGGGGTTCCAGGGGACTCCAGGAAGGGCACTGCTGGGTTACTGCCCCCGCCCCTGCCCAAATACCTTCTGAGGCTGGTCTTGGTGGGTACGGTTGCTGGCTAGCACCTTGAACTTCTCAGCCCAAGCCTCTAGGTCCAGCTTGACGCCCACCACTTTGGGGGAGAGCAAGGGACCATCAGTGCTACCTGCCCAGGCAGTACCCTGTCCATTGCCTGTTTCCCCACCTCTGTCCCAAACATTCACCTGCTGGCCTCAGTGTGCGCCTGCCTAGGCTGAGCTCCACAGCTGTGCTGACGAGGATGCCCACAGTGTCATTCTCCAGCTCCAGCGGCCTTAACAGGGCTGGGGGTTGGGTGGGGAAGTCAGGAGTGGGGTCTGGCGGCCACACTGACCACTCTATGCTGGGTCCTACAAACCCAGCAGTCCAATCCCGGGATGACTCCA
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ATATATATTTTTCTGTATATGTTTATATTCTCCATTGAGCACCTGACTACACTACAGTTACACGCACGCCCCCGAAGGACACAGCTGGCATCCAGGCCGGGTGCACATGGACACCCACCCTGGCACCAGCAGTGGGCATGGACCACACACACACACTGAGAAAGCGACAAGCAACATGACATTAATTAACGAAGCCATTAATTAATGCATCACCCTCCCCCTCCTCCCAGTCCATCTGAGCCCCATCACTATATCCCCTTGCCCTCAGTTCCCCACTGGCCCCCAGGCTGGGATGCCTTTGGGGGAAATGACCAGAATGAATGGTGTGAAGAGCTGTGCCCAGTCCCCACCTGTGTGTGTGTGTGTGTGTGTGTGTTCAGCAAGGGAGGGACAGTTTGGCCTCCTGCAAGCAGGGAGTGTGTGTGTAGGGGTGGGAAGGAGATAGGGAGTGGGCACAGGCCTGAGTGTGTAAGGGCCAGATTGGCGGAAGGATGGCCCAGCCAGGAGAGACAAAGTCACCCCTGCTAAGGCAAAGGGTGATGTCTGGTGGGGGTTCCTCTGCCGAAAGGTGCAGGCAGTGGCATGTGGTCCCACTGGGGGCCTGACACTAGTGAGAAATGGTTACAATGAGCACCTGGAGAGGTGAGGGGGCACTTGGAGGACACTGGTGGCTAGGGGTGGGACAGAGGGTTCTTCACCCCCTGCCCCAGCATTTGGCACTGTTTGACATTCAGCTTTAGAAATGGGAGGACCAGCCAGGCTGCAGCTCAGATTAGAGGCAGGTGGTGAGCAGGAGATGGAGTGTGCAGGTGCCAACCCTCCCACCAACCCCTCGCCCTGTGTAAGGCTTTGTAAGCCCCTACACCCACCCCACCCCATAGTGTGTGTGTTTGTGCGTGTGCCCAGTGGGGTATGTCGAATGTGAGTCCAGTTTCCATCCTCAATGTTCCAGGTGTATATGGGGTAGTGTCTGAACTGGTATCACTGTGACTATCCTGACACCTGGTGGGCTTGGGGATGTGGCTGTAGGCCTGAAAGGGGCAGGAGCCCATGGGGGCTGCCCCAGAGCCTCTCTCCTGCTAGGATTTAAGCTGGGAGGCACAGGCTTCAAACTGGCCATCTCACCTTCCTCCACTATTCTCACAGAAACCAAGTTTGGGCTTGGGTGGGGCAGAGAGGCCGGGTCAGCTGAGGCAGGGTCCCCCCCAACATAGGCAGCCTCCAGGAAGGGCGGCAGCAGAGGCCTGGTTTTGGCACCAGTGCGTGTGGCCTCCCTGTCCCATCCCACTGGGGGGAGCCCAGCAGGCAAGAAGGGTCTGGGGACACTTGAACAGTTCGGAGGTGAGATGTGATTTGGGTGCCAAACACCTGCGGCGTCCCGCTTTGGGACTCCCCATCCCAAGGCGCAGACCAGACTCTCAGGGCCTGGCCAGCTCAGGTCCTTCAGTGAGGGAGGGACGAGGCTCTAAGGCGGGGAGTGTGGGGCAGGAGGGTGGGAAAGGCGAAGAGGCCGGGTGAGGTGGGAGTGGAGGTGGGGTGGGGCAGGGTGCTCAGAGGCGGCGAGAGGCGTGGACGAGGACTTGAGGCTGCGGCCGGGGCGGCAGGCCCAGGAGGAGCAGCAGTTGCAGGGAGACCAGGACGCCCAGCGACGGCGGGAAGGAGGCCCCGCGGCCACAGTCTGAGGTATCTTCCTGCGGGGAGAGACAAGGAGCTGGTCGGCCTGGGCGGGCGCAAGGCCGCGGGATTTCGGGTCCACCGCCCCCTCTCCTCACTGTCGCGTTGTAGTCGAAGCAGATGTGCGGGCCTCTCCGGTATCGCGGTCTCTGCACTAGCTCACACTGCTCCGGGCCGTCCGCTGGGCATGGGTGGGGAGTCAAGGAGGCGGACGGCGGCGGCGGCACGGAGGGGGCGCGCGGGGCAGAGGGGGAGCGGGCGGCGGGGAGGGCGGGGGCAGGATACAGTGCGTCTCCTTCTGCAGCAGCCGGCCAGCCTCGCACTGGCTGCACAGCGGCTTCTCGGCCACCACAAAGAGAAGATTGGTGTTGGTCGGTCTCTGCGCGTGGAACAGCCTGCGGGCAGCCCGGAAAGGCGGGGCGTTGAGTTTGCCCCGCCCTGACCCACCCCCATCCTGCGGCCCCGCCCCCGGCCGCTCGGAGGCCCCGCCCCTTCCATCCTCCCGAGCGTCTCGCCCCGCTCACAGGTTCCGCCCTTGGCCTCTGGTCCCGCCCCACTGCCAGCACCTGGAGCAGTTTCCGCAGTCGATGATGGCGTTGTAGGAGGCGTTTACCGAGCCGAAGTAGTACTGGGTCTGTTTCATGACGCAGCTGCTCTCGCGCGTCTCGGGGCTCCCCTCGGCCTCCGCGGGGTCTGCGAGGGCCCAGAGCGCCTCAGCTCCGCCCACAGACCCTGGCAAGGTCTCCGGCCTCCCTCAGTCGTAGACCCCACCCTCCCCATGGAGTCGTCTTAGCTCAGATTGGGGACCCGGACTTGAGGAGGCGCCTCCAAAGCCCTACCTACCTGCTTGGAACCAGCTGTGGTAGATGAGGCCGTAGAGAAGCTGCTGGAACAGGGACCTGCAGCGCACGGGGAGCCGAGTGCAGGTGGTCAGCAGAGGACGATGCCATGCCCTACTTCTCTTCTGAGCCCTCCCGGCCAGGGAGCACCTTCTCTACCCACCTCCCGCTCAGGACTCACCAGGCGGCAGCAGAGGTCCACCAGGCCAGGTTAAGGAAATCTGCAACGGTGGGCTGCAGTGGAGAGAGGGGCGTGGACTGCCACTGCTGCCCCTCGCCCTAGGTCACCCCCAGCTTTATCAAATGTCAGAGGTAGGGGGTCATCTGTGGGCAGGTCTCCCAGTCCCCCCCATCTCCAGTCCAGGCATCTCTGGGGACTCACCACAAAGACACCCCGGGGTGCAGCACCCAGGTTGCCAGGGGGCTGAGGGGCACAGGCTGCCTGATAGTCATAGGACTCCTTGCGGGTGTAGAAGGAGTTATTGTAGAGTGCCAGCATCAGGTTGGCATCCACCTCACTGAAGAACCTGCCCACCTGAGGATGTCAGGAGAAAGCCATGGTCACAGGGCTGGCAGTGCTACACCCCTAGAAGGCTCAAATCCCTACTCTCTTCTTTCACTCTCTTCCTGATCCTCACCTGGTCCCACTGATGGTTCTGGTTTGACAGCACCAGGAATCCTCCATCATCAATGAGGACACAGAGTAAGTCCTAGGAGGAAGGGAATGGGGAGGAAAATGGAGAGGGGCTGGGCCCCGGACCTTCCACCGCAGGCAGTCCAGTGGTTCAGAGTTGGGGGGCATCACTCCCCCAGTCCTGGGAAGGCTGTGAAGTCAGGGTGGGGATGTTGAGACCCACAGGCCAAGGGATGTGCTGGGAGTCGCGGCTGGGACTAGGAAGTCTGGAAGTGGGGTAAGCTAGGGTCCAGGGTAGGTTCAGGGCACACACACCTCATTGTTAACCTCGCAGTCCATCTCACAGTGGCTGTTGGGGCCGCACTGCTGGGCAGAGAGTGAGGACCGTAAGCCACCCACCAGTTTTCCTCCCTCCCATCACCTTTCATACATCCGGTTCCCCAGGCCATCTGCAGCTGGCCCTGCCTCCATGTAGGTGTTGGAGCCACTGAGTGGAGGGTTGGTGGGGGTTCCAGGGGACTCCAGGAAGGGCACTGCTGGGTTACTGCCCCCGCCCCTGCCCAAATACCTTCTGAGGCTGGTCTTGGTGGGTACGGTTGCTGGCTAGCACCTTGAACTTCTCAGCCCAAGCCTCTAGGTCCAGCTTGACGCCCACCACTTTGGGGGAGAGCAAGGGACCATCAGTGCTACCTGCCCAGGCAGTACCCTGTCCATTGCCTGTTTCCCCACCTCTGTCCCAAACATTCACCTGCTGGCCTCAGTGTGCGCCTGCCTAGGCTGAGCTCCACAGCTGTGCTGACGAGGATGCCCACAGTGTCATTCTCCAGCTCCAGCGGCCTTAACAGGGCTGGGGGTTGGGTGGGGAAGTCAGGAGTGGGGTCTGGCGGCCACACTGACCACTCTATGCTGGGTCCTACAAACCCAGCAGTCCAATCCCGGGATGACTCCA
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Task1_train_7060
|
This alteration in CACNA2D2, CYB561D2, LOC101928965, LOC127898564 (calcium voltage-gated channel auxiliary subunit alpha2delta 2| cytochrome b561 family member D2| uncharacterized LOC101928965| CYB561D2-LOC101928965) on Chromosome 3 may affect gene function. Does it lead to a disease or is it benign?
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Pathogenic; Cerebellar atrophy with seizures and variable developmental delay
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TAAGGGCCAGATTGGCGGAAGGATGGCCCAGCCAGGAGAGACAAAGTCACCCCTGCTAAGGCAAAGGGTGATGTCTGGTGGGGGTTCCTCTGCCGAAAGGTGCAGGCAGTGGCATGTGGTCCCACTGGGGGCCTGACACTAGTGAGAAATGGTTACAATGAGCACCTGGAGAGGTGAGGGGGCACTTGGAGGACACTGGTGGCTAGGGGTGGGACAGAGGGTTCTTCACCCCCTGCCCCAGCATTTGGCACTGTTTGACATTCAGCTTTAGAAATGGGAGGACCAGCCAGGCTGCAGCTCAGATTAGAGGCAGGTGGTGAGCAGGAGATGGAGTGTGCAGGTGCCAACCCTCCCACCAACCCCTCGCCCTGTGTAAGGCTTTGTAAGCCCCTACACCCACCCCACCCCATAGTGTGTGTGTTTGTGCGTGTGCCCAGTGGGGTATGTCGAATGTGAGTCCAGTTTCCATCCTCAATGTTCCAGGTGTATATGGGGTAGTGTCTGAACTGGTATCACTGTGACTATCCTGACACCTGGTGGGCTTGGGGATGTGGCTGTAGGCCTGAAAGGGGCAGGAGCCCATGGGGGCTGCCCCAGAGCCTCTCTCCTGCTAGGATTTAAGCTGGGAGGCACAGGCTTCAAACTGGCCATCTCACCTTCCTCCACTATTCTCACAGAAACCAAGTTTGGGCTTGGGTGGGGCAGAGAGGCCGGGTCAGCTGAGGCAGGGTCCCCCCCAACATAGGCAGCCTCCAGGAAGGGCGGCAGCAGAGGCCTGGTTTTGGCACCAGTGCGTGTGGCCTCCCTGTCCCATCCCACTGGGGGGAGCCCAGCAGGCAAGAAGGGTCTGGGGACACTTGAACAGTTCGGAGGTGAGATGTGATTTGGGTGCCAAACACCTGCGGCGTCCCGCTTTGGGACTCCCCATCCCAAGGCGCAGACCAGACTCTCAGGGCCTGGCCAGCTCAGGTCCTTCAGTGAGGGAGGGACGAGGCTCTAAGGCGGGGAGTGTGGGGCAGGAGGGTGGGAAAGGCGAAGAGGCCGGGTGAGGTGGGAGTGGAGGTGGGGTGGGGCAGGGTGCTCAGAGGCGGCGAGAGGCGTGGACGAGGACTTGAGGCTGCGGCCGGGGCGGCAGGCCCAGGAGGAGCAGCAGTTGCAGGGAGACCAGGACGCCCAGCGACGGCGGGAAGGAGGCCCCGCGGCCACAGTCTGAGGTATCTTCCTGCGGGGAGAGACAAGGAGCTGGTCGGCCTGGGCGGGCGCAAGGCCGCGGGATTTCGGGTCCACCGCCCCCTCTCCTCACTGTCGCGTTGTAGTCGAAGCAGATGTGCGGGCCTCTCCGGTATCGCGGTCTCTGCACTAGCTCACACTGCTCCGGGCCGTCCGCTGGGCATGGGTGGGGAGTCAAGGAGGCGGACGGCGGCGGCGGCACGGAGGGGGCGCGCGGGGCAGAGGGGGAGCGGGCGGCGGGGAGGGCGGGGGCAGGATACAGTGCGTCTCCTTCTGCAGCAGCCGGCCAGCCTCGCACTGGCTGCACAGCGGCTTCTCGGCCACCACAAAGAGAAGATTGGTGTTGGTCAGTCTCTGCGCGTGGAACAGCCTGCGGGCAGCCCGGAAAGGCGGGGCGTTGAGTTTGCCCCGCCCTGACCCACCCCCATCCTGCGGCCCCGCCCCCGGCCGCTCGGAGGCCCCGCCCCTTCCATCCTCCCGAGCGTCTCGCCCCGCTCACAGGTTCCGCCCTTGGCCTCTGGTCCCGCCCCACTGCCAGCACCTGGAGCAGTTTCCGCAGTCGATGATGGCGTTGTAGGAGGCGTTTACCGAGCCGAAGTAGTACTGGGTCTGTTTCATGACGCAGCTGCTCTCGCGCGTCTCGGGGCTCCCCTCGGCCTCCGCGGGGTCTGCGAGGGCCCAGAGCGCCTCAGCTCCGCCCACAGACCCTGGCAAGGTCTCCGGCCTCCCTCAGTCGTAGACCCCACCCTCCCCATGGAGTCGTCTTAGCTCAGATTGGGGACCCGGACTTGAGGAGGCGCCTCCAAAGCCCTACCTACCTGCTTGGAACCAGCTGTGGTAGATGAGGCCGTAGAGAAGCTGCTGGAACAGGGACCTGCAGCGCACGGGGAGCCGAGTGCAGGTGGTCAGCAGAGGACGATGCCATGCCCTACTTCTCTTCTGAGCCCTCCCGGCCAGGGAGCACCTTCTCTACCCACCTCCCGCTCAGGACTCACCAGGCGGCAGCAGAGGTCCACCAGGCCAGGTTAAGGAAATCTGCAACGGTGGGCTGCAGTGGAGAGAGGGGCGTGGACTGCCACTGCTGCCCCTCGCCCTAGGTCACCCCCAGCTTTATCAAATGTCAGAGGTAGGGGGTCATCTGTGGGCAGGTCTCCCAGTCCCCCCCATCTCCAGTCCAGGCATCTCTGGGGACTCACCACAAAGACACCCCGGGGTGCAGCACCCAGGTTGCCAGGGGGCTGAGGGGCACAGGCTGCCTGATAGTCATAGGACTCCTTGCGGGTGTAGAAGGAGTTATTGTAGAGTGCCAGCATCAGGTTGGCATCCACCTCACTGAAGAACCTGCCCACCTGAGGATGTCAGGAGAAAGCCATGGTCACAGGGCTGGCAGTGCTACACCCCTAGAAGGCTCAAATCCCTACTCTCTTCTTTCACTCTCTTCCTGATCCTCACCTGGTCCCACTGATGGTTCTGGTTTGACAGCACCAGGAATCCTCCATCATCAATGAGGACACAGAGTAAGTCCTAGGAGGAAGGGAATGGGGAGGAAAATGGAGAGGGGCTGGGCCCCGGACCTTCCACCGCAGGCAGTCCAGTGGTTCAGAGTTGGGGGGCATCACTCCCCCAGTCCTGGGAAGGCTGTGAAGTCAGGGTGGGGATGTTGAGACCCACAGGCCAAGGGATGTGCTGGGAGTCGCGGCTGGGACTAGGAAGTCTGGAAGTGGGGTAAGCTAGGGTCCAGGGTAGGTTCAGGGCACACACACCTCATTGTTAACCTCGCAGTCCATCTCACAGTGGCTGTTGGGGCCGCACTGCTGGGCAGAGAGTGAGGACCGTAAGCCACCCACCAGTTTTCCTCCCTCCCATCACCTTTCATACATCCGGTTCCCCAGGCCATCTGCAGCTGGCCCTGCCTCCATGTAGGTGTTGGAGCCACTGAGTGGAGGGTTGGTGGGGGTTCCAGGGGACTCCAGGAAGGGCACTGCTGGGTTACTGCCCCCGCCCCTGCCCAAATACCTTCTGAGGCTGGTCTTGGTGGGTACGGTTGCTGGCTAGCACCTTGAACTTCTCAGCCCAAGCCTCTAGGTCCAGCTTGACGCCCACCACTTTGGGGGAGAGCAAGGGACCATCAGTGCTACCTGCCCAGGCAGTACCCTGTCCATTGCCTGTTTCCCCACCTCTGTCCCAAACATTCACCTGCTGGCCTCAGTGTGCGCCTGCCTAGGCTGAGCTCCACAGCTGTGCTGACGAGGATGCCCACAGTGTCATTCTCCAGCTCCAGCGGCCTTAACAGGGCTGGGGGTTGGGTGGGGAAGTCAGGAGTGGGGTCTGGCGGCCACACTGACCACTCTATGCTGGGTCCTACAAACCCAGCAGTCCAATCCCGGGATGACTCCAGCCCAAGCACCCAGCACTCAGGACAGTGTTTGGCACAGTCTATCCCTCTTTTCACGTCTGCCCTGGCCTCAGCCAGCCTTGTGTTGGAGAGGGGCCTCAGACAGCAGAGCCCAGTTCTGGCTGAGCAGACAGGGAAGCTGAGGCTCCCTGCCTGCTGCTGGGCACACTGCGGGGACACTCACCATCCTGGTGTGGGGGCTTGAAGACATAACCGTGGTTATCCAGGCTGCGGCGGTAGAAGCTGGCATTGAAGGGCTCAGGGTTCTCTGTCCAGTCCTCAGCTGCCCTGGAGCACCCAAGAGGCAGACTGGTAGGTAAGGGGTGGCTTGTCGGGGACAGTGGTCTCCACAGATGCAAGGAGGCCTCTGGGCAGAACAGATGCAGGTTCCCTGGCAGGGGCAGGGTTTGGGTAGTGGGATAGGTCACTTACTTGTTGGGGAAGACTCGGGTGATGCCACCGTCTGTGGCA
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TAAGGGCCAGATTGGCGGAAGGATGGCCCAGCCAGGAGAGACAAAGTCACCCCTGCTAAGGCAAAGGGTGATGTCTGGTGGGGGTTCCTCTGCCGAAAGGTGCAGGCAGTGGCATGTGGTCCCACTGGGGGCCTGACACTAGTGAGAAATGGTTACAATGAGCACCTGGAGAGGTGAGGGGGCACTTGGAGGACACTGGTGGCTAGGGGTGGGACAGAGGGTTCTTCACCCCCTGCCCCAGCATTTGGCACTGTTTGACATTCAGCTTTAGAAATGGGAGGACCAGCCAGGCTGCAGCTCAGATTAGAGGCAGGTGGTGAGCAGGAGATGGAGTGTGCAGGTGCCAACCCTCCCACCAACCCCTCGCCCTGTGTAAGGCTTTGTAAGCCCCTACACCCACCCCACCCCATAGTGTGTGTGTTTGTGCGTGTGCCCAGTGGGGTATGTCGAATGTGAGTCCAGTTTCCATCCTCAATGTTCCAGGTGTATATGGGGTAGTGTCTGAACTGGTATCACTGTGACTATCCTGACACCTGGTGGGCTTGGGGATGTGGCTGTAGGCCTGAAAGGGGCAGGAGCCCATGGGGGCTGCCCCAGAGCCTCTCTCCTGCTAGGATTTAAGCTGGGAGGCACAGGCTTCAAACTGGCCATCTCACCTTCCTCCACTATTCTCACAGAAACCAAGTTTGGGCTTGGGTGGGGCAGAGAGGCCGGGTCAGCTGAGGCAGGGTCCCCCCCAACATAGGCAGCCTCCAGGAAGGGCGGCAGCAGAGGCCTGGTTTTGGCACCAGTGCGTGTGGCCTCCCTGTCCCATCCCACTGGGGGGAGCCCAGCAGGCAAGAAGGGTCTGGGGACACTTGAACAGTTCGGAGGTGAGATGTGATTTGGGTGCCAAACACCTGCGGCGTCCCGCTTTGGGACTCCCCATCCCAAGGCGCAGACCAGACTCTCAGGGCCTGGCCAGCTCAGGTCCTTCAGTGAGGGAGGGACGAGGCTCTAAGGCGGGGAGTGTGGGGCAGGAGGGTGGGAAAGGCGAAGAGGCCGGGTGAGGTGGGAGTGGAGGTGGGGTGGGGCAGGGTGCTCAGAGGCGGCGAGAGGCGTGGACGAGGACTTGAGGCTGCGGCCGGGGCGGCAGGCCCAGGAGGAGCAGCAGTTGCAGGGAGACCAGGACGCCCAGCGACGGCGGGAAGGAGGCCCCGCGGCCACAGTCTGAGGTATCTTCCTGCGGGGAGAGACAAGGAGCTGGTCGGCCTGGGCGGGCGCAAGGCCGCGGGATTTCGGGTCCACCGCCCCCTCTCCTCACTGTCGCGTTGTAGTCGAAGCAGATGTGCGGGCCTCTCCGGTATCGCGGTCTCTGCACTAGCTCACACTGCTCCGGGCCGTCCGCTGGGCATGGGTGGGGAGTCAAGGAGGCGGACGGCGGCGGCGGCACGGAGGGGGCGCGCGGGGCAGAGGGGGAGCGGGCGGCGGGGAGGGCGGGGGCAGGATACAGTGCGTCTCCTTCTGCAGCAGCCGGCCAGCCTCGCACTGGCTGCACAGCGGCTTCTCGGCCACCACAAAGAGAAGATTGGTGTTGGTCAGTCTCTGCGCGTGGAACAGCCTGCGGGCAGCCCGGAAAGGCGGGGCGTTGAGTTTGCCCCGCCCTGACCCACCCCCATCCTGCGGCCCCGCCCCCGGCCGCTCGGAGGCCCCGCCCCTTCCATCCTCCCGAGCGTCTCGCCCCGCTCACAGGTTCCGCCCTTGGCCTCTGGTCCCGCCCCACTGCCAGCACCTGGAGCAGTTTCCGCAGTCGATGATGGCGTTGTAGGAGGCGTTTACCGAGCCGAAGTAGTACTGGGTCTGTTTCATGACGCAGCTGCTCTCGCGCGTCTCGGGGCTCCCCTCGGCCTCCGCGGGGTCTGCGAGGGCCCAGAGCGCCTCAGCTCCGCCCACAGACCCTGGCAAGGTCTCCGGCCTCCCTCAGTCGTAGACCCCACCCTCCCCATGGAGTCGTCTTAGCTCAGATTGGGGACCCGGACTTGAGGAGGCGCCTCCAAAGCCCTACCTACTTGCTTGGAACCAGCTGTGGTAGATGAGGCCGTAGAGAAGCTGCTGGAACAGGGACCTGCAGCGCACGGGGAGCCGAGTGCAGGTGGTCAGCAGAGGACGATGCCATGCCCTACTTCTCTTCTGAGCCCTCCCGGCCAGGGAGCACCTTCTCTACCCACCTCCCGCTCAGGACTCACCAGGCGGCAGCAGAGGTCCACCAGGCCAGGTTAAGGAAATCTGCAACGGTGGGCTGCAGTGGAGAGAGGGGCGTGGACTGCCACTGCTGCCCCTCGCCCTAGGTCACCCCCAGCTTTATCAAATGTCAGAGGTAGGGGGTCATCTGTGGGCAGGTCTCCCAGTCCCCCCCATCTCCAGTCCAGGCATCTCTGGGGACTCACCACAAAGACACCCCGGGGTGCAGCACCCAGGTTGCCAGGGGGCTGAGGGGCACAGGCTGCCTGATAGTCATAGGACTCCTTGCGGGTGTAGAAGGAGTTATTGTAGAGTGCCAGCATCAGGTTGGCATCCACCTCACTGAAGAACCTGCCCACCTGAGGATGTCAGGAGAAAGCCATGGTCACAGGGCTGGCAGTGCTACACCCCTAGAAGGCTCAAATCCCTACTCTCTTCTTTCACTCTCTTCCTGATCCTCACCTGGTCCCACTGATGGTTCTGGTTTGACAGCACCAGGAATCCTCCATCATCAATGAGGACACAGAGTAAGTCCTAGGAGGAAGGGAATGGGGAGGAAAATGGAGAGGGGCTGGGCCCCGGACCTTCCACCGCAGGCAGTCCAGTGGTTCAGAGTTGGGGGGCATCACTCCCCCAGTCCTGGGAAGGCTGTGAAGTCAGGGTGGGGATGTTGAGACCCACAGGCCAAGGGATGTGCTGGGAGTCGCGGCTGGGACTAGGAAGTCTGGAAGTGGGGTAAGCTAGGGTCCAGGGTAGGTTCAGGGCACACACACCTCATTGTTAACCTCGCAGTCCATCTCACAGTGGCTGTTGGGGCCGCACTGCTGGGCAGAGAGTGAGGACCGTAAGCCACCCACCAGTTTTCCTCCCTCCCATCACCTTTCATACATCCGGTTCCCCAGGCCATCTGCAGCTGGCCCTGCCTCCATGTAGGTGTTGGAGCCACTGAGTGGAGGGTTGGTGGGGGTTCCAGGGGACTCCAGGAAGGGCACTGCTGGGTTACTGCCCCCGCCCCTGCCCAAATACCTTCTGAGGCTGGTCTTGGTGGGTACGGTTGCTGGCTAGCACCTTGAACTTCTCAGCCCAAGCCTCTAGGTCCAGCTTGACGCCCACCACTTTGGGGGAGAGCAAGGGACCATCAGTGCTACCTGCCCAGGCAGTACCCTGTCCATTGCCTGTTTCCCCACCTCTGTCCCAAACATTCACCTGCTGGCCTCAGTGTGCGCCTGCCTAGGCTGAGCTCCACAGCTGTGCTGACGAGGATGCCCACAGTGTCATTCTCCAGCTCCAGCGGCCTTAACAGGGCTGGGGGTTGGGTGGGGAAGTCAGGAGTGGGGTCTGGCGGCCACACTGACCACTCTATGCTGGGTCCTACAAACCCAGCAGTCCAATCCCGGGATGACTCCAGCCCAAGCACCCAGCACTCAGGACAGTGTTTGGCACAGTCTATCCCTCTTTTCACGTCTGCCCTGGCCTCAGCCAGCCTTGTGTTGGAGAGGGGCCTCAGACAGCAGAGCCCAGTTCTGGCTGAGCAGACAGGGAAGCTGAGGCTCCCTGCCTGCTGCTGGGCACACTGCGGGGACACTCACCATCCTGGTGTGGGGGCTTGAAGACATAACCGTGGTTATCCAGGCTGCGGCGGTAGAAGCTGGCATTGAAGGGCTCAGGGTTCTCTGTCCAGTCCTCAGCTGCCCTGGAGCACCCAAGAGGCAGACTGGTAGGTAAGGGGTGGCTTGTCGGGGACAGTGGTCTCCACAGATGCAAGGAGGCCTCTGGGCAGAACAGATGCAGGTTCCCTGGCAGGGGCAGGGTTTGGGTAGTGGGATAGGTCACTTACTTGTTGGGGAAGACTCGGGTGATGCCACCGTCTGTGGCA
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Task1_train_7061
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This variant lies on Chromosome 3 and affects the gene MAPKAPK3 (MAPK activated protein kinase 3). Based on this context, is the mutation pathogenic or benign? If pathogenic, what disease does it cause?
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Pathogenic; Patterned macular dystrophy 3
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TATTGTCCCACTCCACAATCCCTGATGGCATCCAGGACCCACTGGATGGAGGCCATGTTCCCTAGTCACATTCAAAGCCTCTGCTCTGTGTCCCAGACTGCTTTTCTCAGCCTCTTCTCTAGTTTCAGCATACTCATTCTGTTCTCACCAGGTGGGTCCCCTTGCTTCTTTCAAACACTGAGTAATCCAAATAGTAATAAGAATAACTGACTGCCTGCCTAAAGCCAGCGGGCCCTGACAAGCAATCTCATTTCATTCTCACCCAGCCTTGTGAGATAAGTGCCATTACCCATTTTACAGATGAGGAAAACAAGGCTCAGAAAAACATTAAGTGACTTGCCCAGGGGCTGTGTAGTTGCTGCACTGGGATTCATTCATTCATTTGTTTACTTGTTCAGCAAGAAATTTTGTGTGGATGCAATGTGCCAGGCCTCAGGCAGGGGCTGCCTGATGCTGTTGGTTTTTTTTGTTTTGTTTTATTTTGTTCTGTTTTTTTGAGACAGAGTCTCACTCTGTCACCTAGGCTGGAGTGCAGTGGCGCAATCTCGGCTCACTGCAGCTTCCGCCTCCCAGGTTTAAGCGATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGACTACAGGCGCACACCACCACACCTGGCTAATTTTTGTATTTTTCGTAGAGATGGGGTTTCACCATGTTAGGCAGGTTGGTCTTGAACTCCTGACCTTAGGTAATCCGCCCGCCTCGGCCTCGAAAAGTGCTGGGATTACAGGCGTGAGCCATTCCACCTGGCCCTGTTGCGGCTTTTGTGAAGTCACAGCCATAGCTTTGACAGATCAGGCCCCCTGATACCAGCATTTTAAGGGAAAGAAGCCATTTGCTGAGCCCTGGAGGAAGGAACAGAGGTAGTGCCAGTTGTTGGGCCACCTTCCAGTCTTGAGGCTGGAAGCTCAGCTCTCCAAATTTCCTATCCTGGGAGGACTGGGTCTTAGAGGTCATCTGGATCAGATGGATGAAATGCAAACCAAGGCAGCACACACATGCATGTGCACACAAGCATGTGTGAGCACTATCAGAGCAGAGTCTGCTCCTCCTGGGCCCTCTGCCCCAAGCCTAGAACGTTACCTTCCTTGGCTTATTTCCTCCTCAGACTGGGCAGAGGCGAGCTGAGGTTACAGCTGCTGCATAAGGTCCTCCCTCTGGCTGAGCACCCCAACCTGTAAATCCTTGCTTTATTTGGACCCTGGCTTTTTTTTCCCGAAGAGAGAAAAGCCTTCTGCAGAGGAGATTCCCTTGAATAGACTAAAACTGCTTCTCTGTTTTTATCACAATTGAGAAGGTCAGATCTTCTCAAATGGAACCTGAGAAATAGCATCCATTGGTTCTAAACCACCACCCCATCCTTCTACCAACACCCCATCCTTCTACCCCGGCTCTGCTTGGGGGTCTCTTCTGCCCCTCTCCATGGGCCTACATCCTACCTACCATTCATTAAAAACCAGTTTCAGGGACAGACCTCCCTACTGCCCTCATCTGCCAGGCCCCTGGCTACTCCTGGGACACAGGAAGATTGCCCCTGTGCAGCTCCTGGGGTCTGGGGTCTGAGCAACCAGGGCCTTCTCCCCTGAGCAACCTCAGATGGGGCTGTCCTTCTAGCCCTGTAGGATTCACTCTGGGCTGGGTATGGGACATGTGCTTGGCAATACTGACTTATGAGCAGCCTGCCTTCCCCCAGCACCCTTGCTCTAGCATTTCATGGCAATGTCACCAACTCAGGATCAGAAGTTCCTGCTCCGAGGCTTTCTATGGCACTTGGTCATTCACAGCCTTGGCTGAGCACCTGCCTTGCTTCCCCTTTTGTGAATGAAGGTAGCACCTTGGGTTTCTCTATATTTGGCCCATGTTAGTGGGCAAGGCCCGGGTCTTTTTATAAATGGACCTGGCTCCTTCTGCACTGGGATGGAGTCGGGGAGTCTGGCTGAAGATCACCTTGGGGCTCTGCTCCTGCCTGGTTCCTAACTCCAAACCAATGTTTTCTCTTTCTGGCCCAGCCTGAAAACCTACTCTACACATCTAAGGAGAAAGACGCAGTGCTTAAGCTCACCGATTTTGGCTTTGCTAAGGAGACCACCCAAAATGCCCTGCAGACACCCTGCTATACTCCCTATTATGTGGGTGAGTCCTTCGGACATGAGTTGTAACTCCTCACCCCAACTTATACAGCTGTATTATGGGGTAGCCAGTGGGTTGCAGAAACCAAAGGGTTAAAGCCCAGCAAGGAGGGAGGGGGAGAATTCTGTCTGCATGGAGGCGGGTGACGTGGGGGGCCGGAGGCTGCAAAAATATTCTCCCAAACTTCAGCTTCTGCTTTTGAAAATAGATCCAGGAAAATTCTGGCTGTGGCCTGTGAGCTGAATGACATCACAGCAGCTCTAAATATATATGTGATAAAAGGCTGCCATCAGCTTGGGACGGAGCCCAACCGCGGTTGTTTTTCTCTAGTTTTTGTCTTCCTGGGATTCATATTCAGAAAGTGGGCATGCATTTCCTCCTAACTTGGAGGGACAAAGGGTACCAGTCACCTGCCTTGTGGGAGACGGTCACTAAAGCCAGGGCTTGGAGGTGTGCACATACTCATGCTTCCTGGAAAAGTTCACTGCCCTTCTGCAAGTGGGCAACCCCCGGATCTGAAAATGTTCCTTGCCAAAACTGCCCCCTAACCTGAGAGTGGGGTGATGACAGAGGGCTTTTCTCCCTCAGAAGAGGTCTTCCTGGAGGGCTGCTGAAGGGGTGGGAAGTTCCCTGAGACAGTTGAAATGGCACTCTGTTAACTAGGATGTGTTTTGCACTAAGTATTTTAACTTAGAAATCTTCTAGCCTACCCACCTCATTGCACAGGGAAGACAAAGGCTCCATGGATTGGTAGCCAAGCTGATGATGGAATGCAGAGCCCTGTCCCTGGTTCTTCCTTGCCTGTGACCTAGGCTATGCATTCAGGGAGGCAAGGGACACAGGACAGCTGGCAGGCCAAGACCCTCTCACCTACGGTAGCTTCCCACCAAGCCCCAGACTGGCCTTCTCTTCTCTTCTTTCACCAAGGTTGAGACTGGTAGAGGGGCTCAGGCCCAAGGGAGCTAGGGGTATGTCTGAAAGTGGTTGATTTTTTTCCAGGAGCTTTCTCCTCCCCCAACTTCACACACATGCTGCCTTTCCAAAAGGTGCCAGACGCCAGTCTGCTCTGCCCTACCTCCCAGCCCAGGTACCTGCTCCCCACCTTGCCCAGGCTTTAGGCTCCTGCCTGGGCTCCAAGACCCTTGGGTCTGAGAGCCCTGCTGTCCCTCTGCCCTGGCAGCCCCTGAGGTCCTGGGTCCAGAGAAGTATGACAAGTCATGTGACATGTGGTCCCTGGGTGTCATCATGTACATCCTGTGAGTACCTTCCCCACCCCCTGCCTCCATCTCCTGCCCTTACCCCCACTGTGAGCCCTCAGGACCACTTCTGTCCCCCCACCCCCATGTCCTTGGTGAGGAGCTTGTGTGTGTCACTCCTCATGCAGGCTGCCCTTCCCTTTTGGTCATGGGACACCACTCCTTCAGGTGCCTGAGGGTCTCCCCATGCCAAGGGCTGATGGCATTCCTGGGATGTGCCTGGGAGTCCGGAGGGCTGGTATTATTGCTATGGTGTCTGGTTGTCTGTCTCCCCAGTCAGGGGCTTTTGAGGGGAAATGGGTCCACCCTGGCACTGCTCCCACCCTATGCCAAATGACTTACCCCTTCCCCCAGCCTTTGTGGCTTCCCACCCTTCTACTCCAACACGGGCCAGGCCATCTCCCCGGGGATGAAGAGGAGGATTCGCCTGGGCCAGTACGGCTTCCCCAATCCTGAGTGGTCAGAAGTCTCTGAGGATGGTGAGTGAACCTCTCTGTCCCAGCCTGACTCACCTGGCCCCTGCGGCTTTCATTCTGGGAAACATCACTTTGGTGTCAAACTGACCTGTGTTCAAATCTTGGCTCCCCCTCTTTCCAGCTATGGGACCCTAGGCAAGTCCCCTAACCTTCTTGAGCCTCAGTTTCTACATCTGCCAAACAGGCTCAAAACTTGCCTCCTCAAAAC
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TATTGTCCCACTCCACAATCCCTGATGGCATCCAGGACCCACTGGATGGAGGCCATGTTCCCTAGTCACATTCAAAGCCTCTGCTCTGTGTCCCAGACTGCTTTTCTCAGCCTCTTCTCTAGTTTCAGCATACTCATTCTGTTCTCACCAGGTGGGTCCCCTTGCTTCTTTCAAACACTGAGTAATCCAAATAGTAATAAGAATAACTGACTGCCTGCCTAAAGCCAGCGGGCCCTGACAAGCAATCTCATTTCATTCTCACCCAGCCTTGTGAGATAAGTGCCATTACCCATTTTACAGATGAGGAAAACAAGGCTCAGAAAAACATTAAGTGACTTGCCCAGGGGCTGTGTAGTTGCTGCACTGGGATTCATTCATTCATTTGTTTACTTGTTCAGCAAGAAATTTTGTGTGGATGCAATGTGCCAGGCCTCAGGCAGGGGCTGCCTGATGCTGTTGGTTTTTTTTGTTTTGTTTTATTTTGTTCTGTTTTTTTGAGACAGAGTCTCACTCTGTCACCTAGGCTGGAGTGCAGTGGCGCAATCTCGGCTCACTGCAGCTTCCGCCTCCCAGGTTTAAGCGATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGACTACAGGCGCACACCACCACACCTGGCTAATTTTTGTATTTTTCGTAGAGATGGGGTTTCACCATGTTAGGCAGGTTGGTCTTGAACTCCTGACCTTAGGTAATCCGCCCGCCTCGGCCTCGAAAAGTGCTGGGATTACAGGCGTGAGCCATTCCACCTGGCCCTGTTGCGGCTTTTGTGAAGTCACAGCCATAGCTTTGACAGATCAGGCCCCCTGATACCAGCATTTTAAGGGAAAGAAGCCATTTGCTGAGCCCTGGAGGAAGGAACAGAGGTAGTGCCAGTTGTTGGGCCACCTTCCAGTCTTGAGGCTGGAAGCTCAGCTCTCCAAATTTCCTATCCTGGGAGGACTGGGTCTTAGAGGTCATCTGGATCAGATGGATGAAATGCAAACCAAGGCAGCACACACATGCATGTGCACACAAGCATGTGTGAGCACTATCAGAGCAGAGTCTGCTCCTCCTGGGCCCTCTGCCCCAAGCCTAGAACGTTACCTTCCTTGGCTTATTTCCTCCTCAGACTGGGCAGAGGCGAGCTGAGGTTACAGCTGCTGCATAAGGTCCTCCCTCTGGCTGAGCACCCCAACCTGTAAATCCTTGCTTTATTTGGACCCTGGCTTTTTTTTCCCGAAGAGAGAAAAGCCTTCTGCAGAGGAGATTCCCTTGAATAGACTAAAACTGCTTCTCTGTTTTTATCACAATTGAGAAGGTCAGATCTTCTCAAATGGAACCTGAGAAATAGCATCCATTGGTTCTAAACCACCACCCCATCCTTCTACCAACACCCCATCCTTCTACCCCGGCTCTGCTTGGGGGTCTCTTCTGCCCCTCTCCATGGGCCTACATCCTACCTACCATTCATTAAAAACCAGTTTCAGGGACAGACCTCCCTACTGCCCTCATCTGCCAGGCCCCTGGCTACTCCTGGGACACAGGAAGATTGCCCCTGTGCAGCTCCTGGGGTCTGGGGTCTGAGCAACCAGGGCCTTCTCCCCTGAGCAACCTCAGATGGGGCTGTCCTTCTAGCCCTGTAGGATTCACTCTGGGCTGGGTATGGGACATGTGCTTGGCAATACTGACTTATGAGCAGCCTGCCTTCCCCCAGCACCCTTGCTCTAGCATTTCATGGCAATGTCACCAACTCAGGATCAGAAGTTCCTGCTCCGAGGCTTTCTATGGCACTTGGTCATTCACAGCCTTGGCTGAGCACCTGCCTTGCTTCCCCTTTTGTGAATGAAGGTAGCACCTTGGGTTTCTCTATATTTGGCCCATGTTAGTGGGCAAGGCCCGGGTCTTTTTATAAATGGACCTGGCTCCTTCTGCACTGGGATGGAGTCGGGGAGTCTGGCTGAAGATCACCTTGGGGCTCTGCTCCTGCCTGGTTCCTAACTCCAAACCAATGTTTTCTCTTTCTGGCCCAGCCTGAAAACCTACCCTACACATCTAAGGAGAAAGACGCAGTGCTTAAGCTCACCGATTTTGGCTTTGCTAAGGAGACCACCCAAAATGCCCTGCAGACACCCTGCTATACTCCCTATTATGTGGGTGAGTCCTTCGGACATGAGTTGTAACTCCTCACCCCAACTTATACAGCTGTATTATGGGGTAGCCAGTGGGTTGCAGAAACCAAAGGGTTAAAGCCCAGCAAGGAGGGAGGGGGAGAATTCTGTCTGCATGGAGGCGGGTGACGTGGGGGGCCGGAGGCTGCAAAAATATTCTCCCAAACTTCAGCTTCTGCTTTTGAAAATAGATCCAGGAAAATTCTGGCTGTGGCCTGTGAGCTGAATGACATCACAGCAGCTCTAAATATATATGTGATAAAAGGCTGCCATCAGCTTGGGACGGAGCCCAACCGCGGTTGTTTTTCTCTAGTTTTTGTCTTCCTGGGATTCATATTCAGAAAGTGGGCATGCATTTCCTCCTAACTTGGAGGGACAAAGGGTACCAGTCACCTGCCTTGTGGGAGACGGTCACTAAAGCCAGGGCTTGGAGGTGTGCACATACTCATGCTTCCTGGAAAAGTTCACTGCCCTTCTGCAAGTGGGCAACCCCCGGATCTGAAAATGTTCCTTGCCAAAACTGCCCCCTAACCTGAGAGTGGGGTGATGACAGAGGGCTTTTCTCCCTCAGAAGAGGTCTTCCTGGAGGGCTGCTGAAGGGGTGGGAAGTTCCCTGAGACAGTTGAAATGGCACTCTGTTAACTAGGATGTGTTTTGCACTAAGTATTTTAACTTAGAAATCTTCTAGCCTACCCACCTCATTGCACAGGGAAGACAAAGGCTCCATGGATTGGTAGCCAAGCTGATGATGGAATGCAGAGCCCTGTCCCTGGTTCTTCCTTGCCTGTGACCTAGGCTATGCATTCAGGGAGGCAAGGGACACAGGACAGCTGGCAGGCCAAGACCCTCTCACCTACGGTAGCTTCCCACCAAGCCCCAGACTGGCCTTCTCTTCTCTTCTTTCACCAAGGTTGAGACTGGTAGAGGGGCTCAGGCCCAAGGGAGCTAGGGGTATGTCTGAAAGTGGTTGATTTTTTTCCAGGAGCTTTCTCCTCCCCCAACTTCACACACATGCTGCCTTTCCAAAAGGTGCCAGACGCCAGTCTGCTCTGCCCTACCTCCCAGCCCAGGTACCTGCTCCCCACCTTGCCCAGGCTTTAGGCTCCTGCCTGGGCTCCAAGACCCTTGGGTCTGAGAGCCCTGCTGTCCCTCTGCCCTGGCAGCCCCTGAGGTCCTGGGTCCAGAGAAGTATGACAAGTCATGTGACATGTGGTCCCTGGGTGTCATCATGTACATCCTGTGAGTACCTTCCCCACCCCCTGCCTCCATCTCCTGCCCTTACCCCCACTGTGAGCCCTCAGGACCACTTCTGTCCCCCCACCCCCATGTCCTTGGTGAGGAGCTTGTGTGTGTCACTCCTCATGCAGGCTGCCCTTCCCTTTTGGTCATGGGACACCACTCCTTCAGGTGCCTGAGGGTCTCCCCATGCCAAGGGCTGATGGCATTCCTGGGATGTGCCTGGGAGTCCGGAGGGCTGGTATTATTGCTATGGTGTCTGGTTGTCTGTCTCCCCAGTCAGGGGCTTTTGAGGGGAAATGGGTCCACCCTGGCACTGCTCCCACCCTATGCCAAATGACTTACCCCTTCCCCCAGCCTTTGTGGCTTCCCACCCTTCTACTCCAACACGGGCCAGGCCATCTCCCCGGGGATGAAGAGGAGGATTCGCCTGGGCCAGTACGGCTTCCCCAATCCTGAGTGGTCAGAAGTCTCTGAGGATGGTGAGTGAACCTCTCTGTCCCAGCCTGACTCACCTGGCCCCTGCGGCTTTCATTCTGGGAAACATCACTTTGGTGTCAAACTGACCTGTGTTCAAATCTTGGCTCCCCCTCTTTCCAGCTATGGGACCCTAGGCAAGTCCCCTAACCTTCTTGAGCCTCAGTTTCTACATCTGCCAAACAGGCTCAAAACTTGCCTCCTCAAAAC
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Task1_train_7062
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Consider this mutation in ABHD14A-ACY1, ACY1 (ABHD14A-ACY1 readthrough| aminoacylase 1) on Chromosome 3. Is this a benign change or a disease-causing variant?
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Pathogenic; Aminoacylase 1 deficiency
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GCCATAGTTTCCCATATTTAAGGAAGATAACACCTTCCTCCAACCCTGTGTCCAGACATCCCCCTGGACTTCCAGAAAGGGTCACTGAGTAGCCAAAAATATCTTCTTTCTTGGGGATGGAAATGCAAGCATCTCTGAGGGATATGGAGTGTGTCGGGGAGGCAGCAGCCCATTTCTGGGTATGCTCCACTCTCCGGGCTGCCTGGGCTGGTGGGAAGCTGTGGGTAGGCAGAAGCAGCCCCAAGACACTCTGTGCCTCCAGGAGCTGCTGTGGCTTTCTTTGAGGAGACAGCCCGCCAGCTGGGCCTGGGCTGTCAGAAAGTAGAGGTGAGCCTGGGGCCCTAAGCGGGGAAGGGAGGTGGGCCTGGGCACTTCCTCACCCTGCTCAGACCACCTACCCTCCTGACCATCTCCAGGTGGCACCTGGCTATGTGGTGACCGTGTTGACCTGGCCAGGCACCAACCCTACACTCTCCTCCATCTTGCTCAACTCCCACACGGATGTGGTGCCTGTCTTCAAGGTGTGTAAGGGGCTGGGGAGGTGGGCAGTGCAGGCCTTGGGGACAGACATGATGCAGACCCCAGGATTCAACCTCAAGTTGCTCATGGTCCTGGCCCCAGTCCTGACACTAACTCTCAACATCCTTATGACATTACACCACTCAAGCAGCCTTCATCCAGCAGCAAGTTCTGGGCCAGAGTGGGGTGGGGACTGGGGGGTGGGAAGCAGGAGACAGCAATGGGGGATGGCAATCAGCTGCCTTCTTCAGCCCCCGTCTTTCCTCTCCCACCACTCCACCTGTCACTCCAACCCTATGGTGGGCTCCTAGGGCAGGGCCACTGTTGACCAGAGTGGATTAATGGCTAAATTTGGGGTTTGGGCCCCTCTTCCCATCCCTGCCCCCAGGAACATTGGAGTCACGACCCCTTTGAGGCCTTCAAGGATTCTGAGGGCTACATCTATGCCAGGGGTGCCCAGGACATGAAGTGCGTCAGCATCCAGTGAGTGTCCTCCATTCCTACTCCTCCACAATGTCCCCACTGGTCCAGTGGATTGAAGCAGGACCTGAGGGGGTGATTGGAGAAACTCAAGGCCAAGGAACACCGTGACCTCTTGGACAGGAACTACTGCCATGACCATTGCATGGATAGGGAGATTCAGACCAGAGAGGGGCAGGGACTTTCTGGAGTCCCTATCAGGGTGTGGCAGGGTAAAGTCCAGGACACAGGACTCCAGCCTGCTGGCCCTGCCTGTGGGGCCAGCCTGCGCATCTGGTGGCTCCCCCAGCACCTGGCTTATGCCCCCTCAGGTACCTGGAAGCTGTGAGGAGGCTGAAGGTGGAGGGCCACCGGTTCCCCAGAACCATCCACATGACCTTTGTGCCTGGTAGGAGTGGCTCAGATACCTTTGGGAAAGGGGAGGGTGGGGCGGGGCAGCCTCCTCATCTCACGTCCCTGCTGCTTTTACAGATGAGGAGGTTGGGGGTCACCAAGGCATGGAGCTGTTCGTGCAGCGGCCTGAGTTCCACGCCCTGAGGGCAGGCTTTGCCCTGGATGAGGGTGAGCAGGTTGGCAAGCCAATGAGCAGCCAGGCAGGGAGTAGGAGGCTGCTAGTGGGGACTGAGCTGCTCCACCCTCTGAACCCCCTTTCCCTCCTCAGGCATAGCCAATCCCACTGATGCCTTCACTGTCTTTTATAGTGAGCGGAGTCCCTGGTGTAAGTATGAGCTTGGAGGGAGGGCTCACTCTACAGGCGGGAGGCTAGGCCAGAAAGGGCACGGTCCTATGCAGGGTTGCACAGCAAAGTTGAGGCCTGAGAAGGCCTTGAACCCAGGGCCTCTACCTCCCAGCTCTTTCCTATCTGAGCTTCTCTGAGGGCAAGCCCTGAATGGGCAGAAACCAGCTGTATGCTACGGGCCCTGAGTGGGGACAGGACCCTGCCAGAGGAGCCTGGAATGAGGGGGAGACCTGGGCCCACCCCAGGCTGATTGTGTCTCCAGCCCCTCAGGCTGAAGACACTGCCTTCCCCCTACACCTCCCCAGGGGTGCGGGTTACCAGCACTGGGAGGCCAGGCCATGCCTCACGCTTCATGGAGGACACAGCAGCAGAGAAGCTGGTACGTGGCACCCCAGGAGGGAGTCTGGGAGTTCAGGAGGCTCTATCCTGAGGCCACTGTCCCATTTAACCTCATATTCTCATAGCACAAGGTTGTAAACTCCATCCTGGCATTCCGGGAGAAGGAATGGCAGAGGTGAGGCAGCCTGGGAGGCAGTGGGGTGGCTCTGGGAGGCGGTACCACAGAGGATAGAGTCTGAGCCACCTCTTTTATCTGTTGCTGCCGCTACCCTGCCCCCACACCACAGGCTGCAGTCAAACCCCCACCTGAAAGAGGGGTCCGTGACCTCCGTGAACCTGACTAAGCTAGAGGGTGGCGTGGCCTATAACGTGATACCTGCCACCATGAGCGCCAGCTTTGACTTCCGTGTGGCACCGGATGTGGACTTCAAGGTGCCACCTCCACCTGGGTTTGGAGGAGGGATCCTGGGTCCTCAGTCTTGTCCTAGAGGCCTCTGGAAAGCCTGAAGGATCAGCTCGTCTCCCTTCTCTTAGGCTTTTGAGGAGCAGCTGCAGAGCTGGTGCCAGGCAGCTGGCGAGGGGGTCACCCTAGAGTTTGCTCAGGTATGGACTTGGGACATGTGATGGGAGAGTGTGGGAGCCGGGGGAGACCCAAGTGTGCAACAGTGGAGTGTGTGCTTGGTGTGTCTGCATATGTCTGGGCATTTCTTTATCTGTGACAGACACATTTTATTCCAACAAGCATTCATTGTAGAGGCCACTGTGGGTGCTGGGGAATGCTGTGGGGAGTAAAATTAGGCACAGTTCATGCCCTTGTATGGTGAAACGGGGAGATATAAATCAAACATTTATGTGATATTACTTTTTTCTGAGAGAATCTCACTCCGTCACCCAGGCTGCAGTGCAGTGGCACAATCTCGGCTCACCTCCGCCTCCCGGGTTCAAGCAATTCTTGTGCCTCAGCCTCCAGAGTAGTTGGGATTACAGGCACCTGCCACCACGCCCAGCTAATTTTTGCATTTTTAGTAGAGACAGTGTTTCACCATGTTGGCCAGGCTTGTCTCGAACTCCTGGCCTCAAGTGATCCACCCACCTTGGCCTCGCAAAATGCTGGGATTACAGGCATGAGCCACTGCGCCCAGCCGTACTTTCATATAACCCATGTGGTACAGGAAAGGGTGGCCCCTTGCACTCTGAAAACCTGTAACTGGAGTATCCAACTAGTCTGAGAGGTCTGGGGGAGCCATCTTGAGGAAGGGGCACTTGGGCTAGGATCTGAAGGATGGACAGGAGGTAAGTAGACGGAGGGTGGGAAGGTCCCAGACCTAGGACATTTGAGGGGCTGAAAGAGGACCTGTGGCTGGACTGGCTACCCAGATGTCTGGGTAGGTGAAGGAGTGGGGGTGGGGAGGTGTTATGTACTAGGCACAGCCCACTCTATGGGAAATAGGGCAAGATGCCCAGGCCCATGTCCTGATCCTGCCATTCTTCCTGTCCCTCAGAAGTGGATGCACCCCCAAGTGACACCTACTGATGACTCAAACCCTTGGTGGGCAGCTTTTAGCCGGGTCTGCAAGGATATGTGAGCACGCTGGCCAGCTCTCCTCACAGCCCAGCCCCCTACTCCTCTCCTTCCTGCTGCCCCCTCCCTTCTCCCTCCTTCTCCCACCTCTTTCCCACCTTCCTTTGCCCCTTCAATTCTTCGCTTTCTCCCTCCCCATTCATCAGGCTCTTTCTCCTACAGGAACCTCACTCTGGAGCCTGAGATCATGCCTGCTGCCACTGACAACCGCTATATCCGCGCGGTGAGCCACTTGCATATAGTGCCTGGGCAGTGGACTGGGCCTGAGTGCTGGCTTTTCCCTAACGGCTCTTCCTCACCCCTGCAGGTGGGGGTCCCAGCTCTAGGCTTCTCACCCATGAACCGCACACCTGTGCTGCTGCACGACCACGATGAACGGCTGCATGAGGCTGTGTTCCTCCGTGGGGTGGACATATATACACGCCTGCTGCCTGCCC
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GCCATAGTTTCCCATATTTAAGGAAGATAACACCTTCCTCCAACCCTGTGTCCAGACATCCCCCTGGACTTCCAGAAAGGGTCACTGAGTAGCCAAAAATATCTTCTTTCTTGGGGATGGAAATGCAAGCATCTCTGAGGGATATGGAGTGTGTCGGGGAGGCAGCAGCCCATTTCTGGGTATGCTCCACTCTCCGGGCTGCCTGGGCTGGTGGGAAGCTGTGGGTAGGCAGAAGCAGCCCCAAGACACTCTGTGCCTCCAGGAGCTGCTGTGGCTTTCTTTGAGGAGACAGCCCGCCAGCTGGGCCTGGGCTGTCAGAAAGTAGAGGTGAGCCTGGGGCCCTAAGCGGGGAAGGGAGGTGGGCCTGGGCACTTCCTCACCCTGCTCAGACCACCTACCCTCCTGACCATCTCCAGGTGGCACCTGGCTATGTGGTGACCGTGTTGACCTGGCCAGGCACCAACCCTACACTCTCCTCCATCTTGCTCAACTCCCACACGGATGTGGTGCCTGTCTTCAAGGTGTGTAAGGGGCTGGGGAGGTGGGCAGTGCAGGCCTTGGGGACAGACATGATGCAGACCCCAGGATTCAACCTCAAGTTGCTCATGGTCCTGGCCCCAGTCCTGACACTAACTCTCAACATCCTTATGACATTACACCACTCAAGCAGCCTTCATCCAGCAGCAAGTTCTGGGCCAGAGTGGGGTGGGGACTGGGGGGTGGGAAGCAGGAGACAGCAATGGGGGATGGCAATCAGCTGCCTTCTTCAGCCCCCGTCTTTCCTCTCCCACCACTCCACCTGTCACTCCAACCCTATGGTGGGCTCCTAGGGCAGGGCCACTGTTGACCAGAGTGGATTAATGGCTAAATTTGGGGTTTGGGCCCCTCTTCCCATCCCTGCCCCCAGGAACATTGGAGTCACGACCCCTTTGAGGCCTTCAAGGATTCTGAGGGCTACATCTATGCCAGGGGTGCCCAGGACATGAAGTGCGTCAGCATCCAGTGAGTGTCCTCCATTCCTACTCCTCCACAATGTCCCCACTGGTCCAGTGGATTGAAGCAGGACCTGAGGGGGTGATTGGAGAAACTCAAGGCCAAGGAACACCGTGACCTCTTGGACAGGAACTACTGCCATGACCATTGCATGGATAGGGAGATTCAGACCAGAGAGGGGCAGGGACTTTCTGGAGTCCCTATCAGGGTGTGGCAGGGTAAAGTCCAGGACACAGGACTCCAGCCTGCTGGCCCTGCCTGTGGGGCCAGCCTGCGCATCTGGTGGCTCCCCCAGCACCTGGCTTATGCCCCCTCAGGTACCTGGAAGCTGTGAGGAGGCTGAAGGTGGAGGGCCACCGGTTCCCCAGAACCATCCACATGACCTTTGTGCCTGGTAGGAGTGGCTCAGATACCTTTGGGAAAGGGGAGGGTGGGGCGGGGCAGCCTCCTCATCTCACGTCCCTGCTGCTTTTACAGATGAGGAGGTTGGGGGTCACCAAGGCATGGAGCTGTTCGTGCAGCGGCCTGAGTTCCACGCCCTGAGGGCAGGCTTTGCCCTGGATGAGGGTGAGCAGGTTGGCAAGCCAATGAGCAGCCAGGCAGGGAGTAGGAGGCTGCTAGTGGGGACTGAGCTGCTCCACCCTCTGAACCCCCTTTCCCTCCTCAGGCATAGCCAATCCCACTGATGCCTTCACTGTCTTTTATAGTGAGCGGAGTCCCTGGTGTAAGTATGAGCTTGGAGGGAGGGCTCACTCTACAGGCGGGAGGCTAGGCCAGAAAGGGCACGGTCCTATGCAGGGTTGCACAGCAAAGTTGAGGCCTGAGAAGGCCTTGAACCCAGGGCCTCTACCTCCCAGCTCTTTCCTATCTGAGCTTCTCTGAGGGCAAGCCCTGAATGGGCAGAAACCAGCTGTATGCTACGGGCCCTGAGTGGGGACAGGACCCTGCCAGAGGAGCCTGGAATGAGGGGGAGACCTGGGCCCACCCCAGGCTGATTGTGTCTCCAGCCCCTCAGGCTGAAGACACTGCCTTCCCCCTACACCTCCCCAGGGGTGTGGGTTACCAGCACTGGGAGGCCAGGCCATGCCTCACGCTTCATGGAGGACACAGCAGCAGAGAAGCTGGTACGTGGCACCCCAGGAGGGAGTCTGGGAGTTCAGGAGGCTCTATCCTGAGGCCACTGTCCCATTTAACCTCATATTCTCATAGCACAAGGTTGTAAACTCCATCCTGGCATTCCGGGAGAAGGAATGGCAGAGGTGAGGCAGCCTGGGAGGCAGTGGGGTGGCTCTGGGAGGCGGTACCACAGAGGATAGAGTCTGAGCCACCTCTTTTATCTGTTGCTGCCGCTACCCTGCCCCCACACCACAGGCTGCAGTCAAACCCCCACCTGAAAGAGGGGTCCGTGACCTCCGTGAACCTGACTAAGCTAGAGGGTGGCGTGGCCTATAACGTGATACCTGCCACCATGAGCGCCAGCTTTGACTTCCGTGTGGCACCGGATGTGGACTTCAAGGTGCCACCTCCACCTGGGTTTGGAGGAGGGATCCTGGGTCCTCAGTCTTGTCCTAGAGGCCTCTGGAAAGCCTGAAGGATCAGCTCGTCTCCCTTCTCTTAGGCTTTTGAGGAGCAGCTGCAGAGCTGGTGCCAGGCAGCTGGCGAGGGGGTCACCCTAGAGTTTGCTCAGGTATGGACTTGGGACATGTGATGGGAGAGTGTGGGAGCCGGGGGAGACCCAAGTGTGCAACAGTGGAGTGTGTGCTTGGTGTGTCTGCATATGTCTGGGCATTTCTTTATCTGTGACAGACACATTTTATTCCAACAAGCATTCATTGTAGAGGCCACTGTGGGTGCTGGGGAATGCTGTGGGGAGTAAAATTAGGCACAGTTCATGCCCTTGTATGGTGAAACGGGGAGATATAAATCAAACATTTATGTGATATTACTTTTTTCTGAGAGAATCTCACTCCGTCACCCAGGCTGCAGTGCAGTGGCACAATCTCGGCTCACCTCCGCCTCCCGGGTTCAAGCAATTCTTGTGCCTCAGCCTCCAGAGTAGTTGGGATTACAGGCACCTGCCACCACGCCCAGCTAATTTTTGCATTTTTAGTAGAGACAGTGTTTCACCATGTTGGCCAGGCTTGTCTCGAACTCCTGGCCTCAAGTGATCCACCCACCTTGGCCTCGCAAAATGCTGGGATTACAGGCATGAGCCACTGCGCCCAGCCGTACTTTCATATAACCCATGTGGTACAGGAAAGGGTGGCCCCTTGCACTCTGAAAACCTGTAACTGGAGTATCCAACTAGTCTGAGAGGTCTGGGGGAGCCATCTTGAGGAAGGGGCACTTGGGCTAGGATCTGAAGGATGGACAGGAGGTAAGTAGACGGAGGGTGGGAAGGTCCCAGACCTAGGACATTTGAGGGGCTGAAAGAGGACCTGTGGCTGGACTGGCTACCCAGATGTCTGGGTAGGTGAAGGAGTGGGGGTGGGGAGGTGTTATGTACTAGGCACAGCCCACTCTATGGGAAATAGGGCAAGATGCCCAGGCCCATGTCCTGATCCTGCCATTCTTCCTGTCCCTCAGAAGTGGATGCACCCCCAAGTGACACCTACTGATGACTCAAACCCTTGGTGGGCAGCTTTTAGCCGGGTCTGCAAGGATATGTGAGCACGCTGGCCAGCTCTCCTCACAGCCCAGCCCCCTACTCCTCTCCTTCCTGCTGCCCCCTCCCTTCTCCCTCCTTCTCCCACCTCTTTCCCACCTTCCTTTGCCCCTTCAATTCTTCGCTTTCTCCCTCCCCATTCATCAGGCTCTTTCTCCTACAGGAACCTCACTCTGGAGCCTGAGATCATGCCTGCTGCCACTGACAACCGCTATATCCGCGCGGTGAGCCACTTGCATATAGTGCCTGGGCAGTGGACTGGGCCTGAGTGCTGGCTTTTCCCTAACGGCTCTTCCTCACCCCTGCAGGTGGGGGTCCCAGCTCTAGGCTTCTCACCCATGAACCGCACACCTGTGCTGCTGCACGACCACGATGAACGGCTGCATGAGGCTGTGTTCCTCCGTGGGGTGGACATATATACACGCCTGCTGCCTGCCC
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Task1_train_7063
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This variant affects gene POC1A (POC1 centriolar protein A) located on Chromosome 3. Evaluate its biological effect and specify any disease association.
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Pathogenic; Short stature-onychodysplasia-facial dysmorphism-hypotrichosis syndrome
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CGGTTCTTCAAACAACTCCAGCTCTGCCTCCTTCCTGGTCTCGGCCCTGGTCCAGTCTTGCTCATCTCTGTTTTGCCAGCTACACAATTCCCAGTTTCTCCAATGACCCCTCACCAGCTCCCTTCCCTGAGCCCATCCCTGGAACTGGGGCGCCTCATGGCCCTGCCCACTCATACTTGCTCTCAGGCCAGTTCCCTACCCAGTACTCTCAGCGAACTCATCCTGGGCATGTCTAAGTCTGCCCTCGCCCTCCAACTCCCACCTGGAGCCTGACATGAGCCCATGCCCACTGCCCGCCACCCTGCCTTCCAAGGGCTACCATCCTGGGCCTGGCCCCTAGCTAAGTCAACCCTCCCTATGACTCTACATCTGCGGAGGACACTGTAAGACCAGAGGTGGCCACGGTCCCACCAATGCTGGCCTCTACTGACAGCCCTGTTCCCTTTACCACAGGTCAAGGGCTGTCACCTTGGCCCTGGAGGGCAGAGCCTCCATCACCAGGAAAGGCAAGTGGCATGCCCCTGAGAAGTGGTCCTCAAGGGAAGCCCTGACCAGAGCCCCAGTGAGGACTCCCCATCTGGCCCTGCAGTATGTGTGAGATTCTGCCACTTCGGAGGTGAGCATTGACTGGCTCAGTGGAAGCCAGGTAGCACCAGGCTCCATCTCCTGGCCAAGGTTCCAAGCCAGGCCAGCCATGCCACAGACTCCCACCCCTGGAATCCCAACAAACCCAGGACACCTTCCTGCCCAAGGCCATCTCAGACCCATTTAAGCACTACAGCACAGGACAACATCCAACACCATCACAGTCCCACCAGGGCTGCCCTTGGGCCCAGGAGGCTGTTCACCACTCACACTGATAATGCTGCAGCAGCCGGTGAGTCCGCACGTCCCACACCTTCACTGTGTTGTCCATGCCGGCAGCGGCAATGCACGTCCCACTGGGGTGGAAGTCCACATAGGTGACAAAGCTGGAAAGACAGGGGCCACTATGCACTATAGGAGGTCTGCCCTGGTTCAGGACGGACCCAGAAACATTTGGTGCTTTCCCCATCCCTGTGTCCTGCCCACGCTGTTCCCTTGACCCAGACACCTCCTTTCTGTCACACTTGTTTACCAGGTGGCCAAGGGAGAGCAAGAAGAAGTAAAAGGTGAGAACAGTGGCCAGCAACAAACTAAGGTGGACTGACCAGGGAGCACATCCCACCGCCAATTTTCAATACAAGTTGAGAGAGCTATCTTCAAACCCAAAAGTTAGCCAGGCTCCCCTGGGATTTTCAAAGTTGGAGCTGGTACCCTTCCCAGGGGTGGCTGCAGGGCAGATCCTGCCAGCTGAGGCACAGGTGGGAAGGTCCAGCAGGACTACAGGGCCATTGGCCCACCCCTTTCTAGGAGACAGGCCAAGGACCCTCACCACACCCATATGTGATACCCAGGCTGGTACCATGTCCACCTCTCAAGGAGAAGCCCTTGTGGCTCCCAGCCCAACAAAGAAGGGCAGAAGCTGGGGTCTCTACTCAAATGTAGGCACCTCTCTCTCCTGATGATGTGGCACAATATGAACAGCCACCATCTGCTACAAGAACCCAACAAGAATTTTGTAAAGCCATCATCATGGATAACATACCAAGAGGCTTTAAAATGTAGTTTGGGCGACTGAGTGTCAACTGCTGCCAGACAGACATGTTGTAATCCTGACAACCAGAAAGTGAAGGAGAAAAAGAGGAGCACAAATAATTACACAGCTCCAAAGAATTGCATGGCTTGAGGTTAAGCACTCCTGCTATTTGTGGGATGGGGCCAAAGCTTCCATCCACACAGCAAAAGATACAATGCTAGGTTGCCAGACCTCGCAAAAAGCACCAGACAAGGGGCAGCAGTGATAAGGCTGCTGGTCCCACGGCTCCAGCCACTGAAGGCCACTGGGCCTCCTCATGCCCAGGTCTGTGCTCTGTGCTTGAGCGCCTACAGGTGGAGGACAGCATCTGGGGACTCACCCGCCATGCTCACAATACGAGTGGACACATTCCCGGCTGCTCTTGTCCCACAGCTTAACAGTCTTGTCATCACTGGCAGACACGATGAGCCGCCCGTCGGGGGAGAACCTGAACCGGGTGGGGCACAAGTCACATCACAGACTAACAGACGACATGGGCACCACACACCTTCTTCCACAGCCACTCTTCCCCGAGTGCCTACTATCTGCCTGCAGGAACCACCCGGGGTCACATGCCCTGCTGTGATTTTTTTTTTTTTAATTTGAATACCCTAATTTGTCTTTTCAGGAACAAATGCATTGCATCCTAGGAGGCAATGTTACTTCTGTTTATTTGGTCATATCTTAAATTATACTTTGTTTCTGAAAATAGTTAACTTTTAGCACATCATTTTTCTTTTTTCCTTCTGAAGAGTTTTTCAGGAAACTGTGACTAAATTTTGTTTTTGTTTTTGTTTTGTTTTTTAGACAGGGTATTGCTCTGTCACCCAGGCTGGAGTGCAGTGGTGTGATCTCAGCTCACTGCAGCCTCTACCTCCTGGGCTCAAGAGATCCTCCCACCTAAGCCTCCTGAGCAGCTGGGACTACAGGCGTGCACCACCACACCCAGCTAATTTTATTTTATTTTATTTTATTGTAGAGATGGGAGTCTCACTATGTTGCCCAGGCTGGTCCTCTAACTCCTGGAGTCAAAGGATCCTCCCACCTCATCCACCCAAAGTGCTAGGATTACAGACATGCACCTTCAAGCTCGGCCTATGACTTAATTTTAAATGTTATAAAAATGTTTCCTTTATTTTTTTCTTCCTGAATCTGTGAAACTTATTGATCTTTCCTGTTGCTCTTGTTTTCGTTTTCTTACGTAGCTTCATGAGCAAATAGCCCCTCTCCCATCCCAACAGCAAACTCTGACCAAAAGGGAAAAAGAGAAATTCTTCCTGACTTAGAGGAAAACCAAACATAAATAAACAAAAAGAAAAGAAAAAAAAAAAGGTGCCTGCCTCACGAGTGAGCACAGAGCAGCCTCATGCACATAAAGCCCCAGCACTGCCCCTGACGCACAGCACATGGCAACATGCAGCCGACTGCCTGCCGGCAACATTTGCATAAAGGTGGCCAAAAGCTCACCATCAGTGTCATTACTCTGGGACCAGGTCCTCCGAGTCTACATTTGACTCAAGTGCGGGTCAGCAAGACACAATCTGCCAACAAAAGGCATGAGGTCCTGGGGACTGCCACCAAAGGCCCAGTATGGACTTGACACCCCAGTTTGCTGGCCTGGCCCCTCCTGATCTCAGGACCCTAGTCATAAAGCCTCTAAGAGCCATCAGGGGTCTCCCAGGACAAAGGAATGGGGGTGCCCTGGAGAACAGTAACTTGTATGGGGTCCCCAGAAGAACACAGCTCAATAGTCCCCAACTTCTGACTCATGTGGTTTCCTAATGTCACCTGGCACCCCAACCCCTTCCTCTGAAGCAAAGATATTTGACCCATGGGGAAGCTCTGTTGAAAGGAATGAAATAAGCTAGAAGTAGGACTATCTGTCTGCAATTCTTGGACCTTGAAAGGTCCTTTGGGTTACCTGGCCCGCTGTCTGCACAGCACTGGCTCCCTGGCCAGCAGGAAGGCTAGCCTCCAGGCTAAGCCCCCCATCTCCGAAGCCTGCGCCCCCATCTGGGAGCTCTGGAGCAAAATCATCCCCTGAGAACATCCCAGAGGAAAGTAGGCAAGCCTTACTGTCAGAGAGAGTTGGGTTCAAACTCCAGCTCTGCCACAGACCCACCGTGTGCTCTGGGACAAGATACTACTGTTCTGAGCCCCCATTTCCTCATCTGCAAAATGGAAATGCACCTAGCTTGCAGAACTGTCTTAAGGAACAAAAAGAAAATGTGTAATGGTAGTACTGAAAGTACCTAATTGTTTTTGATAATAAATGGCCCCTGTTGACCCAGTTTGTGCTTTGCCAACACAGATGTCAGAGGGTCATCATGGCTGACTATGGACTAACTTACATGTCATGCATCAGCTCCATGAAGCTTCTCGACAACTTACAATGCAGGAGCTATTATTGTTCCATTTTACAGATAAGGAAACCGAGGC
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CGGTTCTTCAAACAACTCCAGCTCTGCCTCCTTCCTGGTCTCGGCCCTGGTCCAGTCTTGCTCATCTCTGTTTTGCCAGCTACACAATTCCCAGTTTCTCCAATGACCCCTCACCAGCTCCCTTCCCTGAGCCCATCCCTGGAACTGGGGCGCCTCATGGCCCTGCCCACTCATACTTGCTCTCAGGCCAGTTCCCTACCCAGTACTCTCAGCGAACTCATCCTGGGCATGTCTAAGTCTGCCCTCGCCCTCCAACTCCCACCTGGAGCCTGACATGAGCCCATGCCCACTGCCCGCCACCCTGCCTTCCAAGGGCTACCATCCTGGGCCTGGCCCCTAGCTAAGTCAACCCTCCCTATGACTCTACATCTGCGGAGGACACTGTAAGACCAGAGGTGGCCACGGTCCCACCAATGCTGGCCTCTACTGACAGCCCTGTTCCCTTTACCACAGGTCAAGGGCTGTCACCTTGGCCCTGGAGGGCAGAGCCTCCATCACCAGGAAAGGCAAGTGGCATGCCCCTGAGAAGTGGTCCTCAAGGGAAGCCCTGACCAGAGCCCCAGTGAGGACTCCCCATCTGGCCCTGCAGTATGTGTGAGATTCTGCCACTTCGGAGGTGAGCATTGACTGGCTCAGTGGAAGCCAGGTAGCACCAGGCTCCATCTCCTGGCCAAGGTTCCAAGCCAGGCCAGCCATGCCACAGACTCCCACCCCTGGAATCCCAACAAACCCAGGACACCTTCCTGCCCAAGGCCATCTCAGACCCATTTAAGCACTACAGCACAGGACAACATCCAACACCATCACAGTCCCACCAGGGCTGCCCTTGGGCCCAGGAGGCTGTTCACCACTCACACTGATAATGCTGCAGCAGCCGGTGAGTCCGCACGTCCCACACCTTCACTGTGTTGTCCATGCCGGCAGCGGCAATGCACGTCCCACTGGGGTGGAAGTCCACATAGGTGACAAAGCTGGAAAGACAGGGGCCACTATGCACTATAGGAGGTCTGCCCTGGTTCAGGACGGACCCAGAAACATTTGGTGCTTTCCCCATCCCTGTGTCCTGCCCACGCTGTTCCCTTGACCCAGACACCTCCTTTCTGTCACACTTGTTTACCAGGTGGCCAAGGGAGAGCAAGAAGAAGTAAAAGGTGAGAACAGTGGCCAGCAACAAACTAAGGTGGACTGACCAGGGAGCACATCCCACCGCCAATTTTCAATACAAGTTGAGAGAGCTATCTTCAAACCCAAAAGTTAGCCAGGCTCCCCTGGGATTTTCAAAGTTGGAGCTGGTACCCTTCCCAGGGGTGGCTGCAGGGCAGATCCTGCCAGCTGAGGCACAGGTGGGAAGGTCCAGCAGGACTACAGGGCCATTGGCCCACCCCTTTCTAGGAGACAGGCCAAGGACCCTCACCACACCCATATGTGATACCCAGGCTGGTACCATGTCCACCTCTCAAGGAGAAGCCCTTGTGGCTCCCAGCCCAACAAAGAAGGGCAGAAGCTGGGGTCTCTACTCAAATGTAGGCACCTCTCTCTCCTGATGATGTGGCACAATATGAACAGCCACCATCTGCTACAAGAACCCAACAAGAATTTTGTAAAGCCATCATCATGGATAACATACCAAGAGGCTTTAAAATGTAGTTTGGGCGACTGAGTGTCAACTGCTGCCAGACAGACATGTTGTAATCCTGACAACCAGAAAGTGAAGGAGAAAAAGAGGAGCACAAATAATTACACAGCTCCAAAGAATTGCATGGCTTGAGGTTAAGCACTCCTGCTATTTGTGGGATGGGGCCAAAGCTTCCATCCACACAGCAAAAGATACAATGCTAGGTTGCCAGACCTCGCAAAAAGCACCAGACAAGGGGCAGCAGTGATAAGGCTGCTGGTCCCACGGCTCCAGCCACTGAAGGCCACTGGGCCTCCTCATGCCCAGGTCTGTGCTCTGTGCTTGAGCGCCTACAGGTGGAGGACAGCATCTGGGGACTCACCCGCCATGCTCACAATACGAGTGGACACATTCCCGGCTGCTCTTGTCCCACGGCTTAACAGTCTTGTCATCACTGGCAGACACGATGAGCCGCCCGTCGGGGGAGAACCTGAACCGGGTGGGGCACAAGTCACATCACAGACTAACAGACGACATGGGCACCACACACCTTCTTCCACAGCCACTCTTCCCCGAGTGCCTACTATCTGCCTGCAGGAACCACCCGGGGTCACATGCCCTGCTGTGATTTTTTTTTTTTTAATTTGAATACCCTAATTTGTCTTTTCAGGAACAAATGCATTGCATCCTAGGAGGCAATGTTACTTCTGTTTATTTGGTCATATCTTAAATTATACTTTGTTTCTGAAAATAGTTAACTTTTAGCACATCATTTTTCTTTTTTCCTTCTGAAGAGTTTTTCAGGAAACTGTGACTAAATTTTGTTTTTGTTTTTGTTTTGTTTTTTAGACAGGGTATTGCTCTGTCACCCAGGCTGGAGTGCAGTGGTGTGATCTCAGCTCACTGCAGCCTCTACCTCCTGGGCTCAAGAGATCCTCCCACCTAAGCCTCCTGAGCAGCTGGGACTACAGGCGTGCACCACCACACCCAGCTAATTTTATTTTATTTTATTTTATTGTAGAGATGGGAGTCTCACTATGTTGCCCAGGCTGGTCCTCTAACTCCTGGAGTCAAAGGATCCTCCCACCTCATCCACCCAAAGTGCTAGGATTACAGACATGCACCTTCAAGCTCGGCCTATGACTTAATTTTAAATGTTATAAAAATGTTTCCTTTATTTTTTTCTTCCTGAATCTGTGAAACTTATTGATCTTTCCTGTTGCTCTTGTTTTCGTTTTCTTACGTAGCTTCATGAGCAAATAGCCCCTCTCCCATCCCAACAGCAAACTCTGACCAAAAGGGAAAAAGAGAAATTCTTCCTGACTTAGAGGAAAACCAAACATAAATAAACAAAAAGAAAAGAAAAAAAAAAAGGTGCCTGCCTCACGAGTGAGCACAGAGCAGCCTCATGCACATAAAGCCCCAGCACTGCCCCTGACGCACAGCACATGGCAACATGCAGCCGACTGCCTGCCGGCAACATTTGCATAAAGGTGGCCAAAAGCTCACCATCAGTGTCATTACTCTGGGACCAGGTCCTCCGAGTCTACATTTGACTCAAGTGCGGGTCAGCAAGACACAATCTGCCAACAAAAGGCATGAGGTCCTGGGGACTGCCACCAAAGGCCCAGTATGGACTTGACACCCCAGTTTGCTGGCCTGGCCCCTCCTGATCTCAGGACCCTAGTCATAAAGCCTCTAAGAGCCATCAGGGGTCTCCCAGGACAAAGGAATGGGGGTGCCCTGGAGAACAGTAACTTGTATGGGGTCCCCAGAAGAACACAGCTCAATAGTCCCCAACTTCTGACTCATGTGGTTTCCTAATGTCACCTGGCACCCCAACCCCTTCCTCTGAAGCAAAGATATTTGACCCATGGGGAAGCTCTGTTGAAAGGAATGAAATAAGCTAGAAGTAGGACTATCTGTCTGCAATTCTTGGACCTTGAAAGGTCCTTTGGGTTACCTGGCCCGCTGTCTGCACAGCACTGGCTCCCTGGCCAGCAGGAAGGCTAGCCTCCAGGCTAAGCCCCCCATCTCCGAAGCCTGCGCCCCCATCTGGGAGCTCTGGAGCAAAATCATCCCCTGAGAACATCCCAGAGGAAAGTAGGCAAGCCTTACTGTCAGAGAGAGTTGGGTTCAAACTCCAGCTCTGCCACAGACCCACCGTGTGCTCTGGGACAAGATACTACTGTTCTGAGCCCCCATTTCCTCATCTGCAAAATGGAAATGCACCTAGCTTGCAGAACTGTCTTAAGGAACAAAAAGAAAATGTGTAATGGTAGTACTGAAAGTACCTAATTGTTTTTGATAATAAATGGCCCCTGTTGACCCAGTTTGTGCTTTGCCAACACAGATGTCAGAGGGTCATCATGGCTGACTATGGACTAACTTACATGTCATGCATCAGCTCCATGAAGCTTCTCGACAACTTACAATGCAGGAGCTATTATTGTTCCATTTTACAGATAAGGAAACCGAGGC
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Task1_train_7064
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The gene POC1A (POC1 centriolar protein A), on Chromosome 3, contains a mutation. Does this mutation cause a disorder, or is it a benign change?
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Pathogenic; Short stature-onychodysplasia-facial dysmorphism-hypotrichosis syndrome
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CTTTAGGAGGCCAAGGCGGGCAGATTACCTGAGGTCAAGAGTTCAAGATCAGCCTGGCCAACATGGTGAAAACCCCTCTCTACTAAAAATACAAAAATTAGCTAGGCGTGGTGGTGGGCGCCTATAGTCCCAGCTATTTGGGAGGCTAAGGCAGGAGAATCGCTTGAACCCAGGAGGAGGAGGTTGTAGTGAGCCGAGATTGCACCAGTGCACTCCAGCCTGGACGACAGAGTGAGACTCCTAATCAAAAAATAAATAAATAAAATAAATATAAATAAATAAAATAAAAAATAAAGTAGTTAAACGTGGTTAGCAAATGACCCAGCAATTCTAGGTAAATACCCCAAAGAGTTGAAAACATGGTTTACACAAAAACTTGTACACAAATGTTCAGAGCAGCATTTTCCTTAATAGCCAACAAGTGATTGAACCCAAATGATCCATCAACACATGACTGAATAAACCAAATGTAGCATATTCATACAACAGAATATTATTCAGCCATAAAACCGACTGAAGTGCTGATGCTTGCTGCAACATGGATGAACCTTGAAAACATGCTAAGTGAAAGAAGTCAAACACCAAAGGCCACATTTTGTCTGATTCCATTCATATGAAAAGTTCAGAATAGTCAAATCTATAGAGACAGAAAGTATTAATATATTAGTTTGCCAAGGGTTGGGAGAAAATGGGGAAAGAGAAGAAATGGTATGACTGTTATTGAGTATGGAGTTTCTTTTTGGGATGATGAAAATATTCTGGAATTAGTGATTACAGTTGCACAACACTGTGAATGTACTAAAAACTACTGAAATGTACACTTTAAAAGGTGAATTCTGTGGTGTATGAATAACTTAATAAAGTTAAAACACCAGAGAGAATACTCCGGAGACTCTCTCCATCCAATAGCAGCTTGTGTCTTAACACTTGAAGGGTTATAATTCAGCCATCCAAACATCTCCCCCTACTCTAAGTATCAGAAACCTCAAAGAAGCATTTTGGGTGCTCCAGGAAGCCCAAAGGCTCCTCCTGGGAAAGGATGTCCTTGGGGCACAGCAAAGCCACTGCCACCCTACAGAGCAGTAACCAGAACAAAGGCCCTATGGCCTTGTGCCCAGCTCCACCCCTAACGCACCTGTCAGAGTCTCCTTTCAACAACAGAGGGAGGAGCAGCTGGGGGAGGGTCCCCAACAGAGCCTTCTGCTCTCACCTAAGCTTCTTGAAAGAACATGCGTAAGAGAGTGTCCGCCCCTAGGCTCAGTGGGCAGAGGCAAGTTCAGGTCCACCCCTGACCAGTAGGTCCCATGGTATCTCTCAACACCGCCTCCCCTCTGTAGTTCCCTGCATGTGGGCCTCATCTCCCTCAACAGTGGTTTATACATGAGGGGACAGGAAGGGAGGTAGAGTACCAGATTAGGAGTCAAAAGGTCTGTATCCTAGCCTGGAATCTCCGTCCATGTCCTCAAGTGCCTCAGGGCATCACAGGCTACCACCCAGCCTCCCTGACTCTCCAATCAGCCAGAGGGCCTTGCCCGTTCAAAGGAATCTCTCGAAATGAGGACTTCTGGAGGAATGTGAACTCAGAGAGGGCGGCTCCGCCCCGCTCACACTGCAGGCCCGGGCATCCCAGCGTCCTGCTGTACCTACCTGCTGGAGCAGGGTGTACCCTCAACAAGACCCCACGCAGCCACCCACTGCTAAGGACGTGGAGAATGGCTAGAGAGGCCCGATACCGGCCCCAGGTCACACATGAGTCGGGACTTGGTCGTGTGTCCCTCGCTAGGATGCAAACTATGGAGGCAGAGGCCTGTTTGTTCGCTCCAGAAACCCAGCGCAGGGCCTGGCACGCAGGAGGCGCTCAGAAAGTGCCCGACCCAGCGCCCCCTGCGCAGACAGTAAACTGGACCTGAAGAGGACCACCCTGGAACCTGGCGCCCCGCCCGCCCCTCGCAGCCATCGCTCTGGCCATTAGGCGCCCAGTGTCCCAGCGGGGAGACTGAGGCCTGGGGAGTTGCTCTCGGCTGGGCTTACCGCGCAGGGCGCAGCCATGGCGGGGCTGGCGGCGCCGAAGGCAGCTGCGGTGGCCGTTGCGGCCCGTTCAGTTTCCGCGCCCCCAACGGCCACCAATAGCAACGCGGGCCGCGTCGGCACGCCCCGCCCACCGCAATTAAAGGAGAAGCGCCTCAGCTTTTTGCCCGACGACTGGAAGCAGAGCTGTATGACCGGCGGCCGGCGCCACGGTCTCCGTGCCCAGTTCCCCAAGCCCAGACAACCCACAGACAGCGCAGCCAAAAGCCTCTGTCCGCCGCCACTCGTTCCGCCTGAGAAATTAAAAGACCCAGGATGAAGGGTTCACCCCACCAGCCCGTCGTCCGGCTACTCTAACGGCGAGCGCAGCCTCCTGGGAAATGCAGTTCCAAGCCGCCCACGCCCCTATGTCTGGAGGAAGGTGGAGCTACACTTCCCAACATGAGATTGCACCATTGCATTCCAGCCTGGGCAACAAGAGGGCGGGCCGGGTTTTACCACCCGAAGCGACGGCCTTAAGGATCCCGGAAGCGGAGGACACGTGGGTTGCTGTAACCAGATTGCGTTAAAGCACCCGCGCGCGCCGGCGCAGCCAGATTTTCCCCGCAGGAACCTATTGAGAGCTGAGTATTCGCCCCTCGGGAACTCTCAGTGGTTCGCCGTCCGAACGTTCTTAAGACAAGTGTCGATTTAAAATAACATGAGTTACTCGGAATCACAATCATGGAGTGGAGAGATCAAGGTTCGATTCTCAGTTCTCGCCCTGATTGGCTGTGTGATCTCAGGAAAAACGCCTCTGCTCTGTGCCCCGGTTTCCCCATTTGTAACACGAGGGAGTGTGGTGCAGCCCGGCCCTGTCAGGATCCTTAAGGCCTCAGAAGCTGTTAGAAACCCAGTCTTTAAAAGAAGGAGAGGCCGGGCTCAGTGGCTCACGCCTGTAATCTCAGCACTTTGCCACTTTGGGAGGCCGAGGTGGGTGGATCACCTGAGGTCAGGAGTATGAGACCAGCCTGGCCAACATGGTGAAACCCCATGTCTACTAAAAATACAAAAATTAGCCGGGCGTGGTGGCACGCGCCTGTAAACCCAGCTACTCGGGAGGCTGAGGGAGGAGAATTGTTCGAACTCCGGAGGCAGAGATTGCAGTGAGCCTAGATGTTGCCGCTGCACTCCAGCCTGGGCAACAGAGGGAGACTCCGTCTCAAAAAATATATATATATATAAAATAAAATTTGAAGGCCACCAGCAACCATCTGAATAGACTCCCTGCTTGGCCAGGGCACTCAAATTTAACCTGAAAGAGTGGTTCAGGCCATGATGGGAAGTGGGGGTTGGACATGCCTCATTATACCCTCCAGCATTAACATCAACAAAAACCTTAAGTCTGATAAGAAACATTTACGATCTATTTTCTCTGAAACCTGCTACCTGGAGGCTTCATCTGCATGGTAAAACCTTGGTCTCCATAACCCCTTATCTTAACCGAGATATCCCTTTCTACTGATAATAATTATTTCAACCAATTGCCAATCAGAATATGTTTAAATCTACCAATGACCTGGAAGTTTCCCACTTCGAGTTGTCTTGTCCTTCCAGATCAAACCAATGTAAATCTTACATGTATTGATTGATGTATTTTGTCTCCCTAAAATGTATAAAACCATGCTGTGCCCAGGCCACTTGGGCACATGTTGTCAGGACCTCCTGAGGCTGTGTCATGGGTGTGTCCTTAACCTTAGCAAAATAAATTTTCTAAGTTGACTGAGACCTGTCTCAGGTATTTCGGGTTGACAGTTTGGCAACCACGAAAGGATTCTGAGTGGAGGTGCCCCTGACCTTTGACAGATCTCCTATCGGTGCTTGGTACCAGCTTGAGCTATCTTTATGGCTCAAATCTACAGGACAATTTGCTAAGGCCTGGGAGCCCCCCTCCACAAAATTCCTGATCTTCCCAAATTTGGTTAACATCTAAAGTTTATTTTACTGTACAACTCCTTTTTCTGGAGTTTTACTTGTTTCCAACAAGGAAGGCAGGTTTTCCTGCTTCCCTGACGATGGAAGGCAGGTA
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CTTTAGGAGGCCAAGGCGGGCAGATTACCTGAGGTCAAGAGTTCAAGATCAGCCTGGCCAACATGGTGAAAACCCCTCTCTACTAAAAATACAAAAATTAGCTAGGCGTGGTGGTGGGCGCCTATAGTCCCAGCTATTTGGGAGGCTAAGGCAGGAGAATCGCTTGAACCCAGGAGGAGGAGGTTGTAGTGAGCCGAGATTGCACCAGTGCACTCCAGCCTGGACGACAGAGTGAGACTCCTAATCAAAAAATAAATAAATAAAATAAATATAAATAAATAAAATAAAAAATAAAGTAGTTAAACGTGGTTAGCAAATGACCCAGCAATTCTAGGTAAATACCCCAAAGAGTTGAAAACATGGTTTACACAAAAACTTGTACACAAATGTTCAGAGCAGCATTTTCCTTAATAGCCAACAAGTGATTGAACCCAAATGATCCATCAACACATGACTGAATAAACCAAATGTAGCATATTCATACAACAGAATATTATTCAGCCATAAAACCGACTGAAGTGCTGATGCTTGCTGCAACATGGATGAACCTTGAAAACATGCTAAGTGAAAGAAGTCAAACACCAAAGGCCACATTTTGTCTGATTCCATTCATATGAAAAGTTCAGAATAGTCAAATCTATAGAGACAGAAAGTATTAATATATTAGTTTGCCAAGGGTTGGGAGAAAATGGGGAAAGAGAAGAAATGGTATGACTGTTATTGAGTATGGAGTTTCTTTTTGGGATGATGAAAATATTCTGGAATTAGTGATTACAGTTGCACAACACTGTGAATGTACTAAAAACTACTGAAATGTACACTTTAAAAGGTGAATTCTGTGGTGTATGAATAACTTAATAAAGTTAAAACACCAGAGAGAATACTCCGGAGACTCTCTCCATCCAATAGCAGCTTGTGTCTTAACACTTGAAGGGTTATAATTCAGCCATCCAAACATCTCCCCCTACTCTAAGTATCAGAAACCTCAAAGAAGCATTTTGGGTGCTCCAGGAAGCCCAAAGGCTCCTCCTGGGAAAGGATGTCCTTGGGGCACAGCAAAGCCACTGCCACCCTACAGAGCAGTAACCAGAACAAAGGCCCTATGGCCTTGTGCCCAGCTCCACCCCTAACGCACCTGTCAGAGTCTCCTTTCAACAACAGAGGGAGGAGCAGCTGGGGGAGGGTCCCCAACAGAGCCTTCTGCTCTCACCTAAGCTTCTTGAAAGAACATGCGTAAGAGAGTGTCCGCCCCTAGGCTCAGTGGGCAGAGGCAAGTTCAGGTCCACCCCTGACCAGTAGGTCCCATGGTATCTCTCAACACCGCCTCCCCTCTGTAGTTCCCTGCATGTGGGCCTCATCTCCCTCAACAGTGGTTTATACATGAGGGGACAGGAAGGGAGGTAGAGTACCAGATTAGGAGTCAAAAGGTCTGTATCCTAGCCTGGAATCTCCGTCCATGTCCTCAAGTGCCTCAGGGCATCACAGGCTACCACCCAGCCTCCCTGACTCTCCAATCAGCCAGAGGGCCTTGCCCGTTCAAAGGAATCTCTCGAAATGAGGACTTCTGGAGGAATGTGAACTCAGAGAGGGCGGCTCCGCCCCGCTCACACTGCAGGCCCGGGCATCCCAGCGTCCTGCTGTACCTACCTGCTGGAGCAGGGTGTACCCTCAACAAGACCCCACGCAGCCACCCACTGCTAAGGACGTGGAGAATGGCTAGAGAGGCCCGATACCGGCCCCAGGTCACACATGAGTCGGGACTTGGTCGTGTGTCCCTCGCTAGGATGCAAACTATGGAGGCAGAGGCCTGTTTGTTCGCTCCAGAAACCCAGCGCAGGGCCTGGCACGCAGGAGGCGCTCAGAAAGTGCCCGACCCAGCGCCCCCTGCGCAGACAGTAAACTGGACCTGAAGAGGACCACCCTGGAACCTGGCGCCCCGCCCGCCCCTCGCAGCCATCGCTCTGGCCATTAGGCGCCCAGTGTCCCAGCGGGGAGACTGAGGCCTGGGGAGTTGCTCTCGGCTGGGCTTACCGCGCAGGGCGCAGCCACGGCGGGGCTGGCGGCGCCGAAGGCAGCTGCGGTGGCCGTTGCGGCCCGTTCAGTTTCCGCGCCCCCAACGGCCACCAATAGCAACGCGGGCCGCGTCGGCACGCCCCGCCCACCGCAATTAAAGGAGAAGCGCCTCAGCTTTTTGCCCGACGACTGGAAGCAGAGCTGTATGACCGGCGGCCGGCGCCACGGTCTCCGTGCCCAGTTCCCCAAGCCCAGACAACCCACAGACAGCGCAGCCAAAAGCCTCTGTCCGCCGCCACTCGTTCCGCCTGAGAAATTAAAAGACCCAGGATGAAGGGTTCACCCCACCAGCCCGTCGTCCGGCTACTCTAACGGCGAGCGCAGCCTCCTGGGAAATGCAGTTCCAAGCCGCCCACGCCCCTATGTCTGGAGGAAGGTGGAGCTACACTTCCCAACATGAGATTGCACCATTGCATTCCAGCCTGGGCAACAAGAGGGCGGGCCGGGTTTTACCACCCGAAGCGACGGCCTTAAGGATCCCGGAAGCGGAGGACACGTGGGTTGCTGTAACCAGATTGCGTTAAAGCACCCGCGCGCGCCGGCGCAGCCAGATTTTCCCCGCAGGAACCTATTGAGAGCTGAGTATTCGCCCCTCGGGAACTCTCAGTGGTTCGCCGTCCGAACGTTCTTAAGACAAGTGTCGATTTAAAATAACATGAGTTACTCGGAATCACAATCATGGAGTGGAGAGATCAAGGTTCGATTCTCAGTTCTCGCCCTGATTGGCTGTGTGATCTCAGGAAAAACGCCTCTGCTCTGTGCCCCGGTTTCCCCATTTGTAACACGAGGGAGTGTGGTGCAGCCCGGCCCTGTCAGGATCCTTAAGGCCTCAGAAGCTGTTAGAAACCCAGTCTTTAAAAGAAGGAGAGGCCGGGCTCAGTGGCTCACGCCTGTAATCTCAGCACTTTGCCACTTTGGGAGGCCGAGGTGGGTGGATCACCTGAGGTCAGGAGTATGAGACCAGCCTGGCCAACATGGTGAAACCCCATGTCTACTAAAAATACAAAAATTAGCCGGGCGTGGTGGCACGCGCCTGTAAACCCAGCTACTCGGGAGGCTGAGGGAGGAGAATTGTTCGAACTCCGGAGGCAGAGATTGCAGTGAGCCTAGATGTTGCCGCTGCACTCCAGCCTGGGCAACAGAGGGAGACTCCGTCTCAAAAAATATATATATATATAAAATAAAATTTGAAGGCCACCAGCAACCATCTGAATAGACTCCCTGCTTGGCCAGGGCACTCAAATTTAACCTGAAAGAGTGGTTCAGGCCATGATGGGAAGTGGGGGTTGGACATGCCTCATTATACCCTCCAGCATTAACATCAACAAAAACCTTAAGTCTGATAAGAAACATTTACGATCTATTTTCTCTGAAACCTGCTACCTGGAGGCTTCATCTGCATGGTAAAACCTTGGTCTCCATAACCCCTTATCTTAACCGAGATATCCCTTTCTACTGATAATAATTATTTCAACCAATTGCCAATCAGAATATGTTTAAATCTACCAATGACCTGGAAGTTTCCCACTTCGAGTTGTCTTGTCCTTCCAGATCAAACCAATGTAAATCTTACATGTATTGATTGATGTATTTTGTCTCCCTAAAATGTATAAAACCATGCTGTGCCCAGGCCACTTGGGCACATGTTGTCAGGACCTCCTGAGGCTGTGTCATGGGTGTGTCCTTAACCTTAGCAAAATAAATTTTCTAAGTTGACTGAGACCTGTCTCAGGTATTTCGGGTTGACAGTTTGGCAACCACGAAAGGATTCTGAGTGGAGGTGCCCCTGACCTTTGACAGATCTCCTATCGGTGCTTGGTACCAGCTTGAGCTATCTTTATGGCTCAAATCTACAGGACAATTTGCTAAGGCCTGGGAGCCCCCCTCCACAAAATTCCTGATCTTCCCAAATTTGGTTAACATCTAAAGTTTATTTTACTGTACAACTCCTTTTTCTGGAGTTTTACTTGTTTCCAACAAGGAAGGCAGGTTTTCCTGCTTCCCTGACGATGGAAGGCAGGTA
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Task1_train_7065
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This variant affects the gene DNAH1 (dynein axonemal heavy chain 1) found on Chromosome 3. What is the clinical effect of this variant — benign or pathogenic? State the disease if applicable.
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Pathogenic; Spermatogenic failure 18
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AGCTGGCCTGAGGGCCCTGGCTAGAGACTGTGGCTTTGCCTCCTCTGAGGAAAGGCCCCTCTGGCCCCTGAGGCTTAAGAGGGGAACTTGGCCTCACTCTTCTCACTTCCCCTTGGTCCCCATCACTACACTGGGCACCTTGGGTCTGCATCTCACTGGATGCAGACTGCAGCTCCCAGGGGGCAGGGCAGCCTCCCTGATGGTGGCAGTCGCGCCTCCCAGCTCACCTGTACTTCGCAGCTGTCTGGCCCCAGGTAGCCTCCACAGCTGCCTGGATTTCCCCTGAACCCCTTCTCACTGGCTGCCTGGGTGCCTGGTGGGATGCCCCTGCCTGGTCTTGCCACTCCACCACTTCAGCCGCGATATTTCTCCCAATCCCCACCCCCATCCCGGCCAGATGGATTGCCAGCAACTGGCCTTCTAAGATCCTTGGGCAGATAGAGCTGGTGCAGCAGCAGCATGTGGAGGATGAGGAGAAGTTCCGCAAAATCCAGATCATGGATCAGAACAACTTCCAAGAGAAGCTGGAAGGGCTGCAGGTGGGGCACAGCTGCAGGCTTGGTGCTGGACACAGCCCCCACCACACGCACGCACAGTTCTCCAGGGCCTGGCCTCACTTCTTGCATTCAGGAGGTGCTGAGTCAACATGTGATGGGCGGGCAGATGGATGAATGAATAAATGGCTGAAAGAATGAACGCAAAGGCCAAAGAGATGCCTGGGCAGCAAGCTCCAGAAAGATTCGGAGTAGTAAAGTCCCCAGCTCTTCTGTTGTGTCCTTGGCGGCCTACTGGGCAGTGGGCACAGTGTCAGTGCATTGGGTCTCCCCTGGCTTTGCTGTGAGGAACCTGCTCACTCCAGGAGAACAACCTCCTTAGAACTCGGAGGAGTGGACGTCCTGGGACCTCTGGTTCCCTGGGTTTGCATGGGAAGGCCTGGACACAAGTGGGGCTGCAGGGGCATCTGACCCATTGCTCCTTGGCCTGCAGCTGGTAGTAGCTGGCTTCTCCATCCATGTGGAGATTTCACGTGCACACGAGATCGCCAACGAGGTGCGGCGTGTCAAGAAGCAGCTGAAGGACTGCCAGCAGCTGGCCATGCTCTACAACAACCGCGAGCGCATCTTCAGCTTGCCCATCACCAATGTAGGCCTCCTGCAGGCACCCTGCCCCCATGCCCCCAGGCTTGAGGAAGCAGCTCATGTAGATGCAGCTGCCAGGAGGCAGGGCTCTGGCATTTGGGGGCAGGACCCAGCAGGCTGCAGAGTGGAGATAGCCCAACCCTGGCCCTCAGGTTGAGGAGGCCCCTAGTACAAGGCAGGTGGCCTGAGGGTCAGCCCAGGTCTGGTGCAACAGCTCAGAGCCCAGATCTCAGGTGGGAAGAGAAGAAGGGAGGCCAGGCCCAGGTGTTTGGGGGCACGGTCAGGGACATCAGCCAGGAGCAAGGGAGAGGGAGAGGACCTGGCCCAAGAAGGGGCAACATGGAGAGAGACTGGGAAGTGTCCCAAGACAGCCCCAGCCCTGCCCTCCTGTCCCTGCAGTATGACAAGCTCTCCAGGATGGTGAAGGAGTTCCAACCCTACCTGGACCTTTGGACCACAGCGTCTGACTGGCTGCGCTGGTCGGAGAGCTGGATGAATGACCCCCTCTCTGCCATCGATGCTGAGCAGCTGGAGAAGAACGTGGTTGAAGCCTTCAAGACCATGCACAAGTGCGTGAAGCAGTTTAAGGACATGCCAGGTAGGGAGCCAAGCCGGCCAATCCCCTCCTCCCTGCCTCTGCCGCCTGCCTCTCATGCGTTTCTGTCTTACCCGGCAGCCTGCCAGGAAGTGGCCTTGGACATCCGGGCCCGCATCGAGGAGTTCAAACCATACATCCCACTGATCCAGGGGCTGCGCAACCCTGGCATGCGGATCCGGCACTGGGAGACACTGTCCAACCAGATCAACATCAATGTCAGGCCCAAGGCCAACCTGACCTTTGCTCGCTGCCTGGAGATGAACCTGCAGGACCATATCGAGAGCATCAGCAAGGTGGCTGAGGTGGCTGGCAAGGAGTACGCCATCGAGCAGGTGGGTAGCCACCAGCGGGCCCAGCCACTCCAGCCAGGCCCTGCCGGACAGCCTGACCTCCTGCTCTGGCAACCACAGCCACTTGGGAGGATGACAGTAATAAGCCCCATCCCTGGGGTCATGAGGCCCAGGGGTTGAGATGCATTCTATTAAGTGAGTTAATAATGCACATAAAATTCTTGACAGTGTCCACCATTGCTATTATTTTTCAGTTACTCCTCTCAAGAGCCCCAGGAAGGAGCTAATAGCATTAGCCTCAATTTAACAGATGTGTCAGGCCGGGTGCAGTGACACATGCCTGTAAATCCCAGCACTTTGGGAGGATGAGGAGGAAGGATCGCTTGAGCCCAGGAGTTTGAGACCAGTCTGGGCAACATAGGGAGACCCCCATCTCTACAAAAAATTAAGATATTAGCCAGGCATGGTGGCACATGCTTGTGGTCCCAGCTTCTTGGGAGGCTGAGGCTGCAGTGAGCGGTGATTATGCCACTGCACTCCAGCCAGGGAGACAGACTGAGACCCTGTCTCAAAACAAAACAAAAGAAAACAAACAAACAAAAAAACAGATAAATCAATTAAGGCTCAGAAGGGTTCAGCAACTGGCCAGGATGACACAGTAAATGCCAGAGGTGAGACCAGCGCCCACACTCCTCCTAACCTTAGCTGCCTCCCAACATGTGCGTACAACCACATGCAGCACATGTGTAACAGTGAACTGGGCTGAACACAGTGGCTCACGCCTGTAATCCCAGCACTTGGGAGGCCGAGGCGGGTGGATCACCTGAGGTCAGGAGTTCGAGACCAGCCTGGCCAACATGGTGAAACCCCATCTCTACTAAAAATACAAAAAATAGTGGGGTGTGGTGGCACATGCCTGTAATCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATTGCTTGAATCTGGGAGGCAGAGATTGCAGTGAACCAAGATTGTGCCACTGCACTCCAGCCTGGGCTACAGAGCGAGACTCCACCTCAGAAAAAAAAAAAAAAAAGAGTGAATTGGCCCTGAATTCAGATGAGGGGCTCACACGGGACTTGTTGCCAGACAAGCCGAGAGTATTTGCCAGAGCGGCCATGTGGAGGTCATGGCCAGGTACTGTCTGCTGCTTCCCTGGGCAGGGCTGGTCAGACAGCATCAGGACCAGCCCCTCCCAGGACTCAGCCTGGCTTGTCCCCGACCCCAGGCACTGGACAAGATGGAGAAGGAGTGGTCGACCATCCTGTTCAATGTACTGCCCTACAAGGCGACAGACACCTACATCCTGAAGAGCCCGGACGAGGCCTCACAGCTGCTGGACGACCACATCGTCATGACCCAGAATATGTCATTTTCACCCTACAAGAAGCCCTTTGAGCAGCGCATCAACTCCTGGGAGAACAAACTGAAGCTGACCCAGGTCGGCCCTCCCCCCAGTCCTTCCCTCATCGCTCCCCCACTTCAGAGAGCCCGACCCACAGGTGTCACTGATGGTCTCCGGGTGGGGTTCAAAGCATCGCAGTGCCTTGCCCTCATTCACACAGCCCCTGGCTCTCTGGCAGGCCCCGCCCTACTGCATTCAGAGGAGGGCAACTAGGATGGGCTCTCCATCCATGAGGTTCAGCTACTGGATGAGGCAGATAAGGGTGCGTAGGGGCAGCATTTGGGTCCCAAAATGTGGTTGAGGATAGGCCTGAGAACTGCCAGGCGGCCTCCCCAGGGCTGCCTGAGCTTGGGACAACCAGGTCCTCCAGTACTGACACTTTCTGGGCCGGATGTCCCAAGGTCCCAGAGCACCTCAGTGCCCTTTCCCACTCTGTCCTGAGCTTCTGTTCTCATCTCATTTGGAGCTACCTTGGTTGAGGGGACTGGGCCACCAGGGACTGCACTTGTCTTGGGCTCTCAAGGCTAGAGGCAAGGGCTGCCCACAGAGCCCTGGAGGGCAGTCCCGGGGCCAGCCTGCAGGTGTGATATCCCCTTCCCCGGGCCTCCCTGATAGCTGCTCAGAGACCTCCGGCGAAGGCC
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AGCTGGCCTGAGGGCCCTGGCTAGAGACTGTGGCTTTGCCTCCTCTGAGGAAAGGCCCCTCTGGCCCCTGAGGCTTAAGAGGGGAACTTGGCCTCACTCTTCTCACTTCCCCTTGGTCCCCATCACTACACTGGGCACCTTGGGTCTGCATCTCACTGGATGCAGACTGCAGCTCCCAGGGGGCAGGGCAGCCTCCCTGATGGTGGCAGTCGCGCCTCCCAGCTCACCTGTACTTCGCAGCTGTCTGGCCCCAGGTAGCCTCCACAGCTGCCTGGATTTCCCCTGAACCCCTTCTCACTGGCTGCCTGGGTGCCTGGTGGGATGCCCCTGCCTGGTCTTGCCACTCCACCACTTCAGCCGCGATATTTCTCCCAATCCCCACCCCCATCCCGGCCAGATGGATTGCCAGCAACTGGCCTTCTAAGATCCTTGGGCAGATAGAGCTGGTGCAGCAGCAGCATGTGGAGGATGAGGAGAAGTTCCGCAAAATCCAGATCATGGATCAGAACAACTTCCAAGAGAAGCTGGAAGGGCTGCAGGTGGGGCACAGCTGCAGGCTTGGTGCTGGACACAGCCCCCACCACACGCACGCACAGTTCTCCAGGGCCTGGCCTCACTTCTTGCATTCAGGAGGTGCTGAGTCAACATGTGATGGGCGGGCAGATGGATGAATGAATAAATGGCTGAAAGAATGAACGCAAAGGCCAAAGAGATGCCTGGGCAGCAAGCTCCAGAAAGATTCGGAGTAGTAAAGTCCCCAGCTCTTCTGTTGTGTCCTTGGCGGCCTACTGGGCAGTGGGCACAGTGTCAGTGCATTGGGTCTCCCCTGGCTTTGCTGTGAGGAACCTGCTCACTCCAGGAGAACAACCTCCTTAGAACTCGGAGGAGTGGACGTCCTGGGACCTCTGGTTCCCTGGGTTTGCATGGGAAGGCCTGGACACAAGTGGGGCTGCAGGGGCATCTGACCCATTGCTCCTTGGCCTGCAGCTGGTAGTAGCTGGCTTCTCCATCCATGTGGAGATTTCACGTGCACACGAGATCGCCAACGAGGTGCGGCGTGTCAAGAAGCAGCTGAAGGACTGCCAGCAGCTGGCCATGCTCTACAACAACCGCGAGCGCATCTTCAGCTTGCCCATCACCAATGTAGGCCTCCTGCAGGCACCCTGCCCCCATGCCCCCAGGCTTGAGGAAGCAGCTCATGTAGATGCAGCTGCCAGGAGGCAGGGCTCTGGCATTTGGGGGCAGGACCCAGCAGGCTGCAGAGTGGAGATAGCCCAACCCTGGCCCTCAGGTTGAGGAGGCCCCTAGTACAAGGCAGGTGGCCTGAGGGTCAGCCCAGGTCTGGTGCAACAGCTCAGAGCCCAGATCTCAGGTGGGAAGAGAAGAAGGGAGGCCAGGCCCAGGTGTTTGGGGGCACGGTCAGGGACATCAGCCAGGAGCAAGGGAGAGGGAGAGGACCTGGCCCAAGAAGGGGCAACATGGAGAGAGACTGGGAAGTGTCCCAAGACAGCCCCAGCCCTGCCCTCCTGTCCCTGCAGTATGACAAGCTCTCCAGGATGGTGAAGGAGTTCCAACCCTACCTGGACCTTTGGACCACAGCGTCTGACTGGCTGCGCTGGTCGGAGAGCTGGATGAATGACCCCCTCTCTGCCATCGATGCTGAGCAGCTGGAGAAGAACGTGGTTGAAGCCTTCAAGACCATGCACAAGTGCGTGAAGCAGTTTAAGGACATGCCAGGTAGGGAGCCAAGCCGGCCAATCCCCTCCTCCCTGCCTCTGCCGCCTGCCTCTCATGCGTTTCTGTCTTACCCGGCAGCCTGCCAGGAAGTGGCCTTGGACATCCGGGCCCGCATCGAGGAGTTCAAACCATACATCCCACTGATCCAGGGGCTGCGCAACCCTGGCATGCGGATCCGGCACTGGGAGACACTGTCCAACCAGATCAACATCAATGTCAGGCCCAAGGCCAACCTGACCTTTGCTCGCTGCCTGGAGATGAACCTGCAGGACCATATCGAGAGCATCAGCAAGGTGGCTGAGGTGGCTGGCCAGGAGTACGCCATCGAGCAGGTGGGTAGCCACCAGCGGGCCCAGCCACTCCAGCCAGGCCCTGCCGGACAGCCTGACCTCCTGCTCTGGCAACCACAGCCACTTGGGAGGATGACAGTAATAAGCCCCATCCCTGGGGTCATGAGGCCCAGGGGTTGAGATGCATTCTATTAAGTGAGTTAATAATGCACATAAAATTCTTGACAGTGTCCACCATTGCTATTATTTTTCAGTTACTCCTCTCAAGAGCCCCAGGAAGGAGCTAATAGCATTAGCCTCAATTTAACAGATGTGTCAGGCCGGGTGCAGTGACACATGCCTGTAAATCCCAGCACTTTGGGAGGATGAGGAGGAAGGATCGCTTGAGCCCAGGAGTTTGAGACCAGTCTGGGCAACATAGGGAGACCCCCATCTCTACAAAAAATTAAGATATTAGCCAGGCATGGTGGCACATGCTTGTGGTCCCAGCTTCTTGGGAGGCTGAGGCTGCAGTGAGCGGTGATTATGCCACTGCACTCCAGCCAGGGAGACAGACTGAGACCCTGTCTCAAAACAAAACAAAAGAAAACAAACAAACAAAAAAACAGATAAATCAATTAAGGCTCAGAAGGGTTCAGCAACTGGCCAGGATGACACAGTAAATGCCAGAGGTGAGACCAGCGCCCACACTCCTCCTAACCTTAGCTGCCTCCCAACATGTGCGTACAACCACATGCAGCACATGTGTAACAGTGAACTGGGCTGAACACAGTGGCTCACGCCTGTAATCCCAGCACTTGGGAGGCCGAGGCGGGTGGATCACCTGAGGTCAGGAGTTCGAGACCAGCCTGGCCAACATGGTGAAACCCCATCTCTACTAAAAATACAAAAAATAGTGGGGTGTGGTGGCACATGCCTGTAATCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATTGCTTGAATCTGGGAGGCAGAGATTGCAGTGAACCAAGATTGTGCCACTGCACTCCAGCCTGGGCTACAGAGCGAGACTCCACCTCAGAAAAAAAAAAAAAAAAGAGTGAATTGGCCCTGAATTCAGATGAGGGGCTCACACGGGACTTGTTGCCAGACAAGCCGAGAGTATTTGCCAGAGCGGCCATGTGGAGGTCATGGCCAGGTACTGTCTGCTGCTTCCCTGGGCAGGGCTGGTCAGACAGCATCAGGACCAGCCCCTCCCAGGACTCAGCCTGGCTTGTCCCCGACCCCAGGCACTGGACAAGATGGAGAAGGAGTGGTCGACCATCCTGTTCAATGTACTGCCCTACAAGGCGACAGACACCTACATCCTGAAGAGCCCGGACGAGGCCTCACAGCTGCTGGACGACCACATCGTCATGACCCAGAATATGTCATTTTCACCCTACAAGAAGCCCTTTGAGCAGCGCATCAACTCCTGGGAGAACAAACTGAAGCTGACCCAGGTCGGCCCTCCCCCCAGTCCTTCCCTCATCGCTCCCCCACTTCAGAGAGCCCGACCCACAGGTGTCACTGATGGTCTCCGGGTGGGGTTCAAAGCATCGCAGTGCCTTGCCCTCATTCACACAGCCCCTGGCTCTCTGGCAGGCCCCGCCCTACTGCATTCAGAGGAGGGCAACTAGGATGGGCTCTCCATCCATGAGGTTCAGCTACTGGATGAGGCAGATAAGGGTGCGTAGGGGCAGCATTTGGGTCCCAAAATGTGGTTGAGGATAGGCCTGAGAACTGCCAGGCGGCCTCCCCAGGGCTGCCTGAGCTTGGGACAACCAGGTCCTCCAGTACTGACACTTTCTGGGCCGGATGTCCCAAGGTCCCAGAGCACCTCAGTGCCCTTTCCCACTCTGTCCTGAGCTTCTGTTCTCATCTCATTTGGAGCTACCTTGGTTGAGGGGACTGGGCCACCAGGGACTGCACTTGTCTTGGGCTCTCAAGGCTAGAGGCAAGGGCTGCCCACAGAGCCCTGGAGGGCAGTCCCGGGGCCAGCCTGCAGGTGTGATATCCCCTTCCCCGGGCCTCCCTGATAGCTGCTCAGAGACCTCCGGCGAAGGCC
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Task1_train_7066
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A variant on Chromosome 3 in gene DNAH1 (dynein axonemal heavy chain 1) has been observed. Is this a neutral mutation, or does it result in a disease? If so, which one?
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Pathogenic; Ciliary dyskinesia, primary, 37
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AGCTGGCCTGAGGGCCCTGGCTAGAGACTGTGGCTTTGCCTCCTCTGAGGAAAGGCCCCTCTGGCCCCTGAGGCTTAAGAGGGGAACTTGGCCTCACTCTTCTCACTTCCCCTTGGTCCCCATCACTACACTGGGCACCTTGGGTCTGCATCTCACTGGATGCAGACTGCAGCTCCCAGGGGGCAGGGCAGCCTCCCTGATGGTGGCAGTCGCGCCTCCCAGCTCACCTGTACTTCGCAGCTGTCTGGCCCCAGGTAGCCTCCACAGCTGCCTGGATTTCCCCTGAACCCCTTCTCACTGGCTGCCTGGGTGCCTGGTGGGATGCCCCTGCCTGGTCTTGCCACTCCACCACTTCAGCCGCGATATTTCTCCCAATCCCCACCCCCATCCCGGCCAGATGGATTGCCAGCAACTGGCCTTCTAAGATCCTTGGGCAGATAGAGCTGGTGCAGCAGCAGCATGTGGAGGATGAGGAGAAGTTCCGCAAAATCCAGATCATGGATCAGAACAACTTCCAAGAGAAGCTGGAAGGGCTGCAGGTGGGGCACAGCTGCAGGCTTGGTGCTGGACACAGCCCCCACCACACGCACGCACAGTTCTCCAGGGCCTGGCCTCACTTCTTGCATTCAGGAGGTGCTGAGTCAACATGTGATGGGCGGGCAGATGGATGAATGAATAAATGGCTGAAAGAATGAACGCAAAGGCCAAAGAGATGCCTGGGCAGCAAGCTCCAGAAAGATTCGGAGTAGTAAAGTCCCCAGCTCTTCTGTTGTGTCCTTGGCGGCCTACTGGGCAGTGGGCACAGTGTCAGTGCATTGGGTCTCCCCTGGCTTTGCTGTGAGGAACCTGCTCACTCCAGGAGAACAACCTCCTTAGAACTCGGAGGAGTGGACGTCCTGGGACCTCTGGTTCCCTGGGTTTGCATGGGAAGGCCTGGACACAAGTGGGGCTGCAGGGGCATCTGACCCATTGCTCCTTGGCCTGCAGCTGGTAGTAGCTGGCTTCTCCATCCATGTGGAGATTTCACGTGCACACGAGATCGCCAACGAGGTGCGGCGTGTCAAGAAGCAGCTGAAGGACTGCCAGCAGCTGGCCATGCTCTACAACAACCGCGAGCGCATCTTCAGCTTGCCCATCACCAATGTAGGCCTCCTGCAGGCACCCTGCCCCCATGCCCCCAGGCTTGAGGAAGCAGCTCATGTAGATGCAGCTGCCAGGAGGCAGGGCTCTGGCATTTGGGGGCAGGACCCAGCAGGCTGCAGAGTGGAGATAGCCCAACCCTGGCCCTCAGGTTGAGGAGGCCCCTAGTACAAGGCAGGTGGCCTGAGGGTCAGCCCAGGTCTGGTGCAACAGCTCAGAGCCCAGATCTCAGGTGGGAAGAGAAGAAGGGAGGCCAGGCCCAGGTGTTTGGGGGCACGGTCAGGGACATCAGCCAGGAGCAAGGGAGAGGGAGAGGACCTGGCCCAAGAAGGGGCAACATGGAGAGAGACTGGGAAGTGTCCCAAGACAGCCCCAGCCCTGCCCTCCTGTCCCTGCAGTATGACAAGCTCTCCAGGATGGTGAAGGAGTTCCAACCCTACCTGGACCTTTGGACCACAGCGTCTGACTGGCTGCGCTGGTCGGAGAGCTGGATGAATGACCCCCTCTCTGCCATCGATGCTGAGCAGCTGGAGAAGAACGTGGTTGAAGCCTTCAAGACCATGCACAAGTGCGTGAAGCAGTTTAAGGACATGCCAGGTAGGGAGCCAAGCCGGCCAATCCCCTCCTCCCTGCCTCTGCCGCCTGCCTCTCATGCGTTTCTGTCTTACCCGGCAGCCTGCCAGGAAGTGGCCTTGGACATCCGGGCCCGCATCGAGGAGTTCAAACCATACATCCCACTGATCCAGGGGCTGCGCAACCCTGGCATGCGGATCCGGCACTGGGAGACACTGTCCAACCAGATCAACATCAATGTCAGGCCCAAGGCCAACCTGACCTTTGCTCGCTGCCTGGAGATGAACCTGCAGGACCATATCGAGAGCATCAGCAAGGTGGCTGAGGTGGCTGGCAAGGAGTACGCCATCGAGCAGGTGGGTAGCCACCAGCGGGCCCAGCCACTCCAGCCAGGCCCTGCCGGACAGCCTGACCTCCTGCTCTGGCAACCACAGCCACTTGGGAGGATGACAGTAATAAGCCCCATCCCTGGGGTCATGAGGCCCAGGGGTTGAGATGCATTCTATTAAGTGAGTTAATAATGCACATAAAATTCTTGACAGTGTCCACCATTGCTATTATTTTTCAGTTACTCCTCTCAAGAGCCCCAGGAAGGAGCTAATAGCATTAGCCTCAATTTAACAGATGTGTCAGGCCGGGTGCAGTGACACATGCCTGTAAATCCCAGCACTTTGGGAGGATGAGGAGGAAGGATCGCTTGAGCCCAGGAGTTTGAGACCAGTCTGGGCAACATAGGGAGACCCCCATCTCTACAAAAAATTAAGATATTAGCCAGGCATGGTGGCACATGCTTGTGGTCCCAGCTTCTTGGGAGGCTGAGGCTGCAGTGAGCGGTGATTATGCCACTGCACTCCAGCCAGGGAGACAGACTGAGACCCTGTCTCAAAACAAAACAAAAGAAAACAAACAAACAAAAAAACAGATAAATCAATTAAGGCTCAGAAGGGTTCAGCAACTGGCCAGGATGACACAGTAAATGCCAGAGGTGAGACCAGCGCCCACACTCCTCCTAACCTTAGCTGCCTCCCAACATGTGCGTACAACCACATGCAGCACATGTGTAACAGTGAACTGGGCTGAACACAGTGGCTCACGCCTGTAATCCCAGCACTTGGGAGGCCGAGGCGGGTGGATCACCTGAGGTCAGGAGTTCGAGACCAGCCTGGCCAACATGGTGAAACCCCATCTCTACTAAAAATACAAAAAATAGTGGGGTGTGGTGGCACATGCCTGTAATCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATTGCTTGAATCTGGGAGGCAGAGATTGCAGTGAACCAAGATTGTGCCACTGCACTCCAGCCTGGGCTACAGAGCGAGACTCCACCTCAGAAAAAAAAAAAAAAAAGAGTGAATTGGCCCTGAATTCAGATGAGGGGCTCACACGGGACTTGTTGCCAGACAAGCCGAGAGTATTTGCCAGAGCGGCCATGTGGAGGTCATGGCCAGGTACTGTCTGCTGCTTCCCTGGGCAGGGCTGGTCAGACAGCATCAGGACCAGCCCCTCCCAGGACTCAGCCTGGCTTGTCCCCGACCCCAGGCACTGGACAAGATGGAGAAGGAGTGGTCGACCATCCTGTTCAATGTACTGCCCTACAAGGCGACAGACACCTACATCCTGAAGAGCCCGGACGAGGCCTCACAGCTGCTGGACGACCACATCGTCATGACCCAGAATATGTCATTTTCACCCTACAAGAAGCCCTTTGAGCAGCGCATCAACTCCTGGGAGAACAAACTGAAGCTGACCCAGGTCGGCCCTCCCCCCAGTCCTTCCCTCATCGCTCCCCCACTTCAGAGAGCCCGACCCACAGGTGTCACTGATGGTCTCCGGGTGGGGTTCAAAGCATCGCAGTGCCTTGCCCTCATTCACACAGCCCCTGGCTCTCTGGCAGGCCCCGCCCTACTGCATTCAGAGGAGGGCAACTAGGATGGGCTCTCCATCCATGAGGTTCAGCTACTGGATGAGGCAGATAAGGGTGCGTAGGGGCAGCATTTGGGTCCCAAAATGTGGTTGAGGATAGGCCTGAGAACTGCCAGGCGGCCTCCCCAGGGCTGCCTGAGCTTGGGACAACCAGGTCCTCCAGTACTGACACTTTCTGGGCCGGATGTCCCAAGGTCCCAGAGCACCTCAGTGCCCTTTCCCACTCTGTCCTGAGCTTCTGTTCTCATCTCATTTGGAGCTACCTTGGTTGAGGGGACTGGGCCACCAGGGACTGCACTTGTCTTGGGCTCTCAAGGCTAGAGGCAAGGGCTGCCCACAGAGCCCTGGAGGGCAGTCCCGGGGCCAGCCTGCAGGTGTGATATCCCCTTCCCCGGGCCTCCCTGATAGCTGCTCAGAGACCTCCGGCGAAGGCC
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AGCTGGCCTGAGGGCCCTGGCTAGAGACTGTGGCTTTGCCTCCTCTGAGGAAAGGCCCCTCTGGCCCCTGAGGCTTAAGAGGGGAACTTGGCCTCACTCTTCTCACTTCCCCTTGGTCCCCATCACTACACTGGGCACCTTGGGTCTGCATCTCACTGGATGCAGACTGCAGCTCCCAGGGGGCAGGGCAGCCTCCCTGATGGTGGCAGTCGCGCCTCCCAGCTCACCTGTACTTCGCAGCTGTCTGGCCCCAGGTAGCCTCCACAGCTGCCTGGATTTCCCCTGAACCCCTTCTCACTGGCTGCCTGGGTGCCTGGTGGGATGCCCCTGCCTGGTCTTGCCACTCCACCACTTCAGCCGCGATATTTCTCCCAATCCCCACCCCCATCCCGGCCAGATGGATTGCCAGCAACTGGCCTTCTAAGATCCTTGGGCAGATAGAGCTGGTGCAGCAGCAGCATGTGGAGGATGAGGAGAAGTTCCGCAAAATCCAGATCATGGATCAGAACAACTTCCAAGAGAAGCTGGAAGGGCTGCAGGTGGGGCACAGCTGCAGGCTTGGTGCTGGACACAGCCCCCACCACACGCACGCACAGTTCTCCAGGGCCTGGCCTCACTTCTTGCATTCAGGAGGTGCTGAGTCAACATGTGATGGGCGGGCAGATGGATGAATGAATAAATGGCTGAAAGAATGAACGCAAAGGCCAAAGAGATGCCTGGGCAGCAAGCTCCAGAAAGATTCGGAGTAGTAAAGTCCCCAGCTCTTCTGTTGTGTCCTTGGCGGCCTACTGGGCAGTGGGCACAGTGTCAGTGCATTGGGTCTCCCCTGGCTTTGCTGTGAGGAACCTGCTCACTCCAGGAGAACAACCTCCTTAGAACTCGGAGGAGTGGACGTCCTGGGACCTCTGGTTCCCTGGGTTTGCATGGGAAGGCCTGGACACAAGTGGGGCTGCAGGGGCATCTGACCCATTGCTCCTTGGCCTGCAGCTGGTAGTAGCTGGCTTCTCCATCCATGTGGAGATTTCACGTGCACACGAGATCGCCAACGAGGTGCGGCGTGTCAAGAAGCAGCTGAAGGACTGCCAGCAGCTGGCCATGCTCTACAACAACCGCGAGCGCATCTTCAGCTTGCCCATCACCAATGTAGGCCTCCTGCAGGCACCCTGCCCCCATGCCCCCAGGCTTGAGGAAGCAGCTCATGTAGATGCAGCTGCCAGGAGGCAGGGCTCTGGCATTTGGGGGCAGGACCCAGCAGGCTGCAGAGTGGAGATAGCCCAACCCTGGCCCTCAGGTTGAGGAGGCCCCTAGTACAAGGCAGGTGGCCTGAGGGTCAGCCCAGGTCTGGTGCAACAGCTCAGAGCCCAGATCTCAGGTGGGAAGAGAAGAAGGGAGGCCAGGCCCAGGTGTTTGGGGGCACGGTCAGGGACATCAGCCAGGAGCAAGGGAGAGGGAGAGGACCTGGCCCAAGAAGGGGCAACATGGAGAGAGACTGGGAAGTGTCCCAAGACAGCCCCAGCCCTGCCCTCCTGTCCCTGCAGTATGACAAGCTCTCCAGGATGGTGAAGGAGTTCCAACCCTACCTGGACCTTTGGACCACAGCGTCTGACTGGCTGCGCTGGTCGGAGAGCTGGATGAATGACCCCCTCTCTGCCATCGATGCTGAGCAGCTGGAGAAGAACGTGGTTGAAGCCTTCAAGACCATGCACAAGTGCGTGAAGCAGTTTAAGGACATGCCAGGTAGGGAGCCAAGCCGGCCAATCCCCTCCTCCCTGCCTCTGCCGCCTGCCTCTCATGCGTTTCTGTCTTACCCGGCAGCCTGCCAGGAAGTGGCCTTGGACATCCGGGCCCGCATCGAGGAGTTCAAACCATACATCCCACTGATCCAGGGGCTGCGCAACCCTGGCATGCGGATCCGGCACTGGGAGACACTGTCCAACCAGATCAACATCAATGTCAGGCCCAAGGCCAACCTGACCTTTGCTCGCTGCCTGGAGATGAACCTGCAGGACCATATCGAGAGCATCAGCAAGGTGGCTGAGGTGGCTGGCCAGGAGTACGCCATCGAGCAGGTGGGTAGCCACCAGCGGGCCCAGCCACTCCAGCCAGGCCCTGCCGGACAGCCTGACCTCCTGCTCTGGCAACCACAGCCACTTGGGAGGATGACAGTAATAAGCCCCATCCCTGGGGTCATGAGGCCCAGGGGTTGAGATGCATTCTATTAAGTGAGTTAATAATGCACATAAAATTCTTGACAGTGTCCACCATTGCTATTATTTTTCAGTTACTCCTCTCAAGAGCCCCAGGAAGGAGCTAATAGCATTAGCCTCAATTTAACAGATGTGTCAGGCCGGGTGCAGTGACACATGCCTGTAAATCCCAGCACTTTGGGAGGATGAGGAGGAAGGATCGCTTGAGCCCAGGAGTTTGAGACCAGTCTGGGCAACATAGGGAGACCCCCATCTCTACAAAAAATTAAGATATTAGCCAGGCATGGTGGCACATGCTTGTGGTCCCAGCTTCTTGGGAGGCTGAGGCTGCAGTGAGCGGTGATTATGCCACTGCACTCCAGCCAGGGAGACAGACTGAGACCCTGTCTCAAAACAAAACAAAAGAAAACAAACAAACAAAAAAACAGATAAATCAATTAAGGCTCAGAAGGGTTCAGCAACTGGCCAGGATGACACAGTAAATGCCAGAGGTGAGACCAGCGCCCACACTCCTCCTAACCTTAGCTGCCTCCCAACATGTGCGTACAACCACATGCAGCACATGTGTAACAGTGAACTGGGCTGAACACAGTGGCTCACGCCTGTAATCCCAGCACTTGGGAGGCCGAGGCGGGTGGATCACCTGAGGTCAGGAGTTCGAGACCAGCCTGGCCAACATGGTGAAACCCCATCTCTACTAAAAATACAAAAAATAGTGGGGTGTGGTGGCACATGCCTGTAATCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATTGCTTGAATCTGGGAGGCAGAGATTGCAGTGAACCAAGATTGTGCCACTGCACTCCAGCCTGGGCTACAGAGCGAGACTCCACCTCAGAAAAAAAAAAAAAAAAGAGTGAATTGGCCCTGAATTCAGATGAGGGGCTCACACGGGACTTGTTGCCAGACAAGCCGAGAGTATTTGCCAGAGCGGCCATGTGGAGGTCATGGCCAGGTACTGTCTGCTGCTTCCCTGGGCAGGGCTGGTCAGACAGCATCAGGACCAGCCCCTCCCAGGACTCAGCCTGGCTTGTCCCCGACCCCAGGCACTGGACAAGATGGAGAAGGAGTGGTCGACCATCCTGTTCAATGTACTGCCCTACAAGGCGACAGACACCTACATCCTGAAGAGCCCGGACGAGGCCTCACAGCTGCTGGACGACCACATCGTCATGACCCAGAATATGTCATTTTCACCCTACAAGAAGCCCTTTGAGCAGCGCATCAACTCCTGGGAGAACAAACTGAAGCTGACCCAGGTCGGCCCTCCCCCCAGTCCTTCCCTCATCGCTCCCCCACTTCAGAGAGCCCGACCCACAGGTGTCACTGATGGTCTCCGGGTGGGGTTCAAAGCATCGCAGTGCCTTGCCCTCATTCACACAGCCCCTGGCTCTCTGGCAGGCCCCGCCCTACTGCATTCAGAGGAGGGCAACTAGGATGGGCTCTCCATCCATGAGGTTCAGCTACTGGATGAGGCAGATAAGGGTGCGTAGGGGCAGCATTTGGGTCCCAAAATGTGGTTGAGGATAGGCCTGAGAACTGCCAGGCGGCCTCCCCAGGGCTGCCTGAGCTTGGGACAACCAGGTCCTCCAGTACTGACACTTTCTGGGCCGGATGTCCCAAGGTCCCAGAGCACCTCAGTGCCCTTTCCCACTCTGTCCTGAGCTTCTGTTCTCATCTCATTTGGAGCTACCTTGGTTGAGGGGACTGGGCCACCAGGGACTGCACTTGTCTTGGGCTCTCAAGGCTAGAGGCAAGGGCTGCCCACAGAGCCCTGGAGGGCAGTCCCGGGGCCAGCCTGCAGGTGTGATATCCCCTTCCCCGGGCCTCCCTGATAGCTGCTCAGAGACCTCCGGCGAAGGCC
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Task1_train_7067
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This genomic variant is located on Chromosome 3, within the DNAH1 (dynein axonemal heavy chain 1) gene. Can you determine its pathogenicity and name any linked disease?
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Pathogenic; Spermatogenic failure 18
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AGCCCTGGAGGGCAGTCCCGGGGCCAGCCTGCAGGTGTGATATCCCCTTCCCCGGGCCTCCCTGATAGCTGCTCAGAGACCTCCGGCGAAGGCCAGAAGCAGGTGGGGAGGGCTCATCTGTGTGCCTGGACCACCCAGAGATGCCTGAGCTGGTCAGCACTATCCCCAGTCCCCCTCTGCTCACGCTGTCCACTCGACCTGGAGTTTGACACCCGCCTTCCATCTCCTCCAAGGCCCAGCAACAAGCAGCCTTGCCGACTCTCCCTCACCATCCTTCAAGGGGTTCCCACCGAGGCCATTGTCGGTGCCTCTTTCAGAGTCCACTACACATGCCGGGCCCATGATTCAGGGGCAGAACTGGCCCCTTAGTGGGCTGTGGGCCCCTCGAGGGAAGGGACCAGGCCGCATTCCCCTGTTTCCCCTAGTGCCTCCCAGGGCCTGGCACAGTCCTGACACTGCTGACTGTGACCCCCATCCCATGAGGAAGAAATGGATGAGTGCGTGAGTTTGCGCTGATGGGAGAAGACAAGAGATACATCCTGAATGGGGAATTTGGAGGCAGAAGGGGGAAATGGCTCATTTTGAAGATGTCTCACCCTTGGACTCATGTTTCAGAGAGTATTTTAGGACTCTCACACTCAAGACCCATTGAATCTCAGAGAATCCTGGGGTCATGGACCCAGAAGTCCTTCCAGGAAGGAGGCTGGTTTGTCTCCCAGGCACCGAGTGTTTCCTGTCACTGCAGGCTTTGCTGGCGTGGGTGTGTTCCTCCCTTTGGAAGAGCAGCTCCCCCGGCTCCTTTGGAGGCTTGGGCGTCCTGTGGGGATGTGGGACTTCTCTGGAGGGCAGGCATCCCTGTATCCTCTTTGTTCCCTGGAGTATCACAGATGACAGCACCATCTAGAAATCTCCCTGTAGACACTGGCTTTGGTGTCCAGTGCTCTGCCCAACATGCTGGTGGGGTGAAATGTCCCAGTCATTGGGACAAACCCCAGCTTGGACCCTGACAGTCCATATCACACCCCTCCCTGCCCCTCCCCTCCCCAGGAGGTTCTGGAGGAGTGGCTGAACTGTCAGCGGTCCTGGCTCTACCTGGAGCCCATCTTTAGCTCTGAGGACATCAACCAGCAGCTGCCTGTGGAGAGCAAGCGCTACCAGACCATGGAGCGGATCTGGAAGAAGATCATGAAGAATGCCTACGAGAACCGGGAGGCAAGCTCAATGAGGGTGGGAGGGGCAGCTGGGATCCCCAAGGGCCCTGGTCACATTGCTGGTAGCCTCCTAGTCTCTTCCCTCCCTACACAGAAAAGGCTGGTGGACAAGCCTGAGGATTTGATCTTGAACCATGTCCTCCAGAGTGGGCTCCCCAGCCTCAGAGTTGCTCCTTAGAGGCACAGTCACTGACGGTTTTTCTCTTGGAGATCCACAGCCCATATTAACGTTTTTTTTTTGTTTGTCTGTTTTTTTTTTTTTGTTTTTTTTTTTGAAACAGAGTTTTGCTCTTGTTGCCCAGGCTGGAGTGCCATGGTGCAATCTCGGCTCACTGCAACCTTCACCTCCCTGGTTCACCTCCCGGAGGCTGAGACAGGGTAATCCTGTCTTAGCCTACCAAGTAGCTGGGATTACAGGCATGCGCCACCACGCGTGGCTGATTTTCTTTTGTATTTAGTGGAGCCGGGATTTCACCATGTTGGTCAGGCTGGTCTCAAACTCCTGACCTCAGGTGATCTACCTGCCTCAGCCTCCCAAAGTGCTGAGATTACAGACGTGAGCCACCATGCCCGGCCCATATTAGCATTTTAGAAGCTCTGACAAGTCCTGCAGCAAAGCAAACTCTTTAGCTTTGTTTAACTCTAACTTGTTTGACCGTAGAATTTTTTCTGTGGGGCTGATGGTTGCAGCCACTGGCTCAGGGAGAATTTTTCTGCATCTTCTTTCCCAGGCCCCGCTGAGGGGCTCTGGCTGGTGTGGGTGCTCTGGGATGAGCCTATCTTGCTACCTGGACCATGCTCACTGCCCATTTCTGTGCATGGCCCGGGCCCTGCAGGTGATCAATGTGTGTTCCGACCTGAGAATGCTGGACAGCCTGCGGGACTGCAACAAGATTCTGGACCTGGTGCAGAAGGGCCTCAGCGAGTATCTGGAGACCAAGAGGAGCGCCTTCCCCAGGTGGGCGCCACCTGGCCATGCCCACTCCGCCACTGTCTGCCCACAAGGCTGAGGTGTCCAGGGCCCTGCTCAGGCTAGGGTGCGGGGATGTCAGCAGGACTGGGGCAGCTGGGGCCCAGGGAGCCTGCACGACCCGCTTCCTCACCCCTGTTCCCCTGGCAGATTCTACTTCCTGTCAGATGATGAACTACTAGAGATCTTGTCGCAGACAAAGGACCCCACGGCCGTGCAGCCACACCTGCGCAAGTGCTTCGAGAACATCGCTCGGGTGGGCAGCTGGGCCCGGGGCTCAGGGCTGGGAGCATGGGGCATCTTCCCAGGGAGAACGTCCCTCCCTTTGTGATGAGCCCTTTTAGCAGGAAATGTGGCAAATGACATTCCTGGTCTTTGGAGACACACCTGGGGCCTGTGGGAGGAAGGTCAACTGCAGAATCCCCAGCTCAGGGCTGAGGGCCCTGGATTTCCAACTCACCAGGCGCTCCCTGTGCCCCCAGCACACTGCAAAACCCATGAGGCCAGAAGCCTGTGGCCTGCCTTGTCTTCCCTCATCTATGCAGGAGGCCGGGGACATGCAAGGCAGTCAGCCTCCTTCCCTAAAGCCTGCTTCATGCCGGGCCTGGGCTGGGGCCTGACCACTGCTGGGGAGAAGGCAGGCCATCCAGCCTGGGAAGGCCCAGCCAAGATAGACTCTCGGGGGGACGGGAAGGCAGGGCTTTCTTCTTGAGGTGGAGGGCACCGGGCAGGCTTAGCGCTGGGGCTGTGGTGGCCAGGGCATCTGGGCACACCAGGGTGACCCCACTCCTGCTCCTCCACTGCTTGCAGCTGCTATTCCAGGAGGACCTGGAGATCACGCACATGTACTCAGCCGAGGGGGAGGAGGTACAGTTGTGCTTCTCCATCTACCCCTCCAGCAACGTGGAGGACTGGCTGCGGGAGGTGGAGCGCAGCATGAAGGCCAGTGTGCACGACATCATTGAGAAGGCCATCAGGGCCTACCCCACGGTGAGCCGCCCGCAGCCCGTGCAGCCTTCCACCCCTGCACCCCTCTGCTCCCTCTCAGTGCCCCTCCTGCTCTAGCCGGCCTCGTCCTCAGGCTGCAGCCCTGAGGTCCCTGGGGGCTCAGGCGGGATTCTGGAGTCTTTCCTTTCCACACACACTCCAGAAAGTGGGACTCACTCCTAATCATCGGGATGGCTGTTCTGGTTCCCAGCACTCACTGGGTGCCAGGCTCCAGGCTGGGCCCTCTCCTGCAGTCTTTCTCTCAGCTCCATGACCATAACCGGCAGCTGGGCTCTAGGTGACTCCCCAGCCTGCAGAGTCAGTTCAGAGATATCTCTGCCACCCTGAGAAGCCCAGAGCATAAGGGCTTCCCTGCTCTGAAGGGACTGGTGGCATCAACAACTGGAGCCAAGTCTGAAAGGCCAGAGCACAGACAGCATTCAGAGGAAGAAGAAAGAATGGGATTGGGGCTGCGGCTGTCCAGGTCAGCCTGCCCATGCTGTCTTCCCAGATGCCCAGGACCCAGTGGGTTCTGAACTGGCCTGGCCAGGTGACCATCGCTGGGTGCCAGACCTACTGGACCATGGAGGTGGCAGAGGCTCTGGAGGCCGGCAACCTCAGAAGCCAACTGTTCCCCCAGCTCTGCCAGCAGGTTGGAGTCAAGAGGACCCCTGTCTGTCCCCCTCCACCCCCTACATGGCACAGGAGGGCCCAGTCCCTCCGGAAGCTTTCTCCTATAGTGAGCCTGGAAGAGGCCTGGGGTTGGGTCTAAAGGGGAGGTCAGACACCCTTGAAGTGTCTCACAACCAGCCACCCACAGGAAGGACGGGCCTGAGGCGATGCCCCCTCTGCAAGGGTCAGTGAGGGAGCCACGCGCCTGGTCCCTCCTGCACAGTACCACAGGCACCCCTTGCCCTGTGCTCCAGTG
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AGCCCTGGAGGGCAGTCCCGGGGCCAGCCTGCAGGTGTGATATCCCCTTCCCCGGGCCTCCCTGATAGCTGCTCAGAGACCTCCGGCGAAGGCCAGAAGCAGGTGGGGAGGGCTCATCTGTGTGCCTGGACCACCCAGAGATGCCTGAGCTGGTCAGCACTATCCCCAGTCCCCCTCTGCTCACGCTGTCCACTCGACCTGGAGTTTGACACCCGCCTTCCATCTCCTCCAAGGCCCAGCAACAAGCAGCCTTGCCGACTCTCCCTCACCATCCTTCAAGGGGTTCCCACCGAGGCCATTGTCGGTGCCTCTTTCAGAGTCCACTACACATGCCGGGCCCATGATTCAGGGGCAGAACTGGCCCCTTAGTGGGCTGTGGGCCCCTCGAGGGAAGGGACCAGGCCGCATTCCCCTGTTTCCCCTAGTGCCTCCCAGGGCCTGGCACAGTCCTGACACTGCTGACTGTGACCCCCATCCCATGAGGAAGAAATGGATGAGTGCGTGAGTTTGCGCTGATGGGAGAAGACAAGAGATACATCCTGAATGGGGAATTTGGAGGCAGAAGGGGGAAATGGCTCATTTTGAAGATGTCTCACCCTTGGACTCATGTTTCAGAGAGTATTTTAGGACTCTCACACTCAAGACCCATTGAATCTCAGAGAATCCTGGGGTCATGGACCCAGAAGTCCTTCCAGGAAGGAGGCTGGTTTGTCTCCCAGGCACCGAGTGTTTCCTGTCACTGCAGGCTTTGCTGGCGTGGGTGTGTTCCTCCCTTTGGAAGAGCAGCTCCCCCGGCTCCTTTGGAGGCTTGGGCGTCCTGTGGGGATGTGGGACTTCTCTGGAGGGCAGGCATCCCTGTATCCTCTTTGTTCCCTGGAGTATCACAGATGACAGCACCATCTAGAAATCTCCCTGTAGACACTGGCTTTGGTGTCCAGTGCTCTGCCCAACATGCTGGTGGGGTGAAATGTCCCAGTCATTGGGACAAACCCCAGCTTGGACCCTGACAGTCCATATCACACCCCTCCCTGCCCCTCCCCTCCCCAGGAGGTTCTGGAGGAGTGGCTGAACTGTCAGCGGTCCTGGCTCTACCTGGAGCCCATCTTTAGCTCTGAGGACATCAACCAGCAGCTGCCTGTGGAGAGCAAGCGCTACCAGACCATGGAGCGGATCTGGAAGAAGATCATGAAGAATGCCTACGAGAACCGGGAGGCAAGCTCAATGAGGGTGGGAGGGGCAGCTGGGATCCCCAAGGGCCCTGGTCACATTGCTGGTAGCCTCCTAGTCTCTTCCCTCCCTACACAGAAAAGGCTGGTGGACAAGCCTGAGGATTTGATCTTGAACCATGTCCTCCAGAGTGGGCTCCCCAGCCTCAGAGTTGCTCCTTAGAGGCACAGTCACTGACGGTTTTTCTCTTGGAGATCCACAGCCCATATTAACGTTTTTTTTTTGTTTGTCTGTTTTTTTTTTTTTGTTTTTTTTTTTGAAACAGAGTTTTGCTCTTGTTGCCCAGGCTGGAGTGCCATGGTGCAATCTCGGCTCACTGCAACCTTCACCTCCCTGGTTCACCTCCCGGAGGCTGAGACAGGGTAATCCTGTCTTAGCCTACCAAGTAGCTGGGATTACAGGCATGCGCCACCACGCGTGGCTGATTTTCTTTTGTATTTAGTGGAGCCGGGATTTCACCATGTTGGTCAGGCTGGTCTCAAACTCCTGACCTCAGGTGATCTACCTGCCTCAGCCTCCCAAAGTGCTGAGATTACAGACGTGAGCCACCATGCCCGGCCCATATTAGCATTTTAGAAGCTCTGACAAGTCCTGCAGCAAAGCAAACTCTTTAGCTTTGTTTAACTCTAACTTGTTTGACCGTAGAATTTTTTCTGTGGGGCTGATGGTTGCAGCCACTGGCTCAGGGAGAATTTTTCTGCATCTTCTTTCCCAGGCCCCGCTGAGGGGCTCTGGCTGGTGTGGGTGCTCTGGGATGAGCCTATCTTGCTACCTGGACCATGCTCACTGCCCATTTCTGTGCATGGCCCGGGCCCTGCAGGGGATCAATGTGTGTTCCGACCTGAGAATGCTGGACAGCCTGCGGGACTGCAACAAGATTCTGGACCTGGTGCAGAAGGGCCTCAGCGAGTATCTGGAGACCAAGAGGAGCGCCTTCCCCAGGTGGGCGCCACCTGGCCATGCCCACTCCGCCACTGTCTGCCCACAAGGCTGAGGTGTCCAGGGCCCTGCTCAGGCTAGGGTGCGGGGATGTCAGCAGGACTGGGGCAGCTGGGGCCCAGGGAGCCTGCACGACCCGCTTCCTCACCCCTGTTCCCCTGGCAGATTCTACTTCCTGTCAGATGATGAACTACTAGAGATCTTGTCGCAGACAAAGGACCCCACGGCCGTGCAGCCACACCTGCGCAAGTGCTTCGAGAACATCGCTCGGGTGGGCAGCTGGGCCCGGGGCTCAGGGCTGGGAGCATGGGGCATCTTCCCAGGGAGAACGTCCCTCCCTTTGTGATGAGCCCTTTTAGCAGGAAATGTGGCAAATGACATTCCTGGTCTTTGGAGACACACCTGGGGCCTGTGGGAGGAAGGTCAACTGCAGAATCCCCAGCTCAGGGCTGAGGGCCCTGGATTTCCAACTCACCAGGCGCTCCCTGTGCCCCCAGCACACTGCAAAACCCATGAGGCCAGAAGCCTGTGGCCTGCCTTGTCTTCCCTCATCTATGCAGGAGGCCGGGGACATGCAAGGCAGTCAGCCTCCTTCCCTAAAGCCTGCTTCATGCCGGGCCTGGGCTGGGGCCTGACCACTGCTGGGGAGAAGGCAGGCCATCCAGCCTGGGAAGGCCCAGCCAAGATAGACTCTCGGGGGGACGGGAAGGCAGGGCTTTCTTCTTGAGGTGGAGGGCACCGGGCAGGCTTAGCGCTGGGGCTGTGGTGGCCAGGGCATCTGGGCACACCAGGGTGACCCCACTCCTGCTCCTCCACTGCTTGCAGCTGCTATTCCAGGAGGACCTGGAGATCACGCACATGTACTCAGCCGAGGGGGAGGAGGTACAGTTGTGCTTCTCCATCTACCCCTCCAGCAACGTGGAGGACTGGCTGCGGGAGGTGGAGCGCAGCATGAAGGCCAGTGTGCACGACATCATTGAGAAGGCCATCAGGGCCTACCCCACGGTGAGCCGCCCGCAGCCCGTGCAGCCTTCCACCCCTGCACCCCTCTGCTCCCTCTCAGTGCCCCTCCTGCTCTAGCCGGCCTCGTCCTCAGGCTGCAGCCCTGAGGTCCCTGGGGGCTCAGGCGGGATTCTGGAGTCTTTCCTTTCCACACACACTCCAGAAAGTGGGACTCACTCCTAATCATCGGGATGGCTGTTCTGGTTCCCAGCACTCACTGGGTGCCAGGCTCCAGGCTGGGCCCTCTCCTGCAGTCTTTCTCTCAGCTCCATGACCATAACCGGCAGCTGGGCTCTAGGTGACTCCCCAGCCTGCAGAGTCAGTTCAGAGATATCTCTGCCACCCTGAGAAGCCCAGAGCATAAGGGCTTCCCTGCTCTGAAGGGACTGGTGGCATCAACAACTGGAGCCAAGTCTGAAAGGCCAGAGCACAGACAGCATTCAGAGGAAGAAGAAAGAATGGGATTGGGGCTGCGGCTGTCCAGGTCAGCCTGCCCATGCTGTCTTCCCAGATGCCCAGGACCCAGTGGGTTCTGAACTGGCCTGGCCAGGTGACCATCGCTGGGTGCCAGACCTACTGGACCATGGAGGTGGCAGAGGCTCTGGAGGCCGGCAACCTCAGAAGCCAACTGTTCCCCCAGCTCTGCCAGCAGGTTGGAGTCAAGAGGACCCCTGTCTGTCCCCCTCCACCCCCTACATGGCACAGGAGGGCCCAGTCCCTCCGGAAGCTTTCTCCTATAGTGAGCCTGGAAGAGGCCTGGGGTTGGGTCTAAAGGGGAGGTCAGACACCCTTGAAGTGTCTCACAACCAGCCACCCACAGGAAGGACGGGCCTGAGGCGATGCCCCCTCTGCAAGGGTCAGTGAGGGAGCCACGCGCCTGGTCCCTCCTGCACAGTACCACAGGCACCCCTTGCCCTGTGCTCCAGTG
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Task1_train_7068
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The gene BAP1 (BRCA1 associated deubiquitinase 1) is located on Chromosome 3, where a mutation has occurred. What is the medical relevance of this mutation?
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Pathogenic; BAP1-related tumor predisposition syndrome
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CAACCCATGAAGTTGTACCAAGGAGCGTGACCTAAACATTTAATCCCACAGCCACGTAACTAGATTAAATTCAAAGGAGCTCTCCCTGCCTCCCTAAGCTCCTGCTGTTGTGGGGGCCTTTTCATATCAGGCAGAGGAACCTAGCAACCCAGGCCCAGGCAGCTTGACCCAGCCATGCCAAGGATGAACACCAAGGAACCACATGGGAAAATTGCCTGTTGCAGCCTCTCAAGAGAATCAAGTAGAGAATCCTGCAAGGGTGCTCCCAGCTTACCTGCATGGGGGACTTGGCATAATTGTGATTGTCTAGAAAGGCCGGCAGCCGCTGGACAATGGGAGTGGGGTTGGGGTGAACCCCATTGAGGCTGCTGCCTGGAGGCTTCACCACTAGCTTGGGTTTGTTGGGAGGGCTGTGGGATGGGGCTTGTGCGCATGAACCAGCCGCCTCCTCTGCACCATCTGAGACAGGGCAAGAACACAGGCAGGACCTCCAGTAGGATCTCCAAGAAAAGCTCACAGTCTCCCCGGCCCTGTGAACCAGCACTTCCCAGAGAAGAACAGCCCAGCCAGCTGGTGCAATGGGAGTCAGCAAGCTCTAAGTCATGATCCCGCAATGAGACAGGGCAAAGAATGAGATGGGAAAAAAGAAGCAGGAAGAAAAAAAAAAAAAAAAAAAAAAAAAAAAACCGCCTCTAGAGAAAACAAGAAAGGGAGTGTACATTACAGAGAAGGGCCCAGGGGCCTGTGGTAACAGCGGCCCTTTACAGGTGCCTTTCTTTAGGGAAGGACTGCTCTCCCTCTACCTTCTGACGGGGGAAGAACACTGCCCAAGGACATCCCCAGAAAAAGACTTTCCCTGTTTAGGCCTCCCATGTCAGACATTAGCGGGTGGCTCTGAGGTCCACAAGAGGTCCCAAACCCCCCAGTACCTGTGTGGTTGCCCTCAGAGGCTGCAGGGGCCCTGTTTGCTTCCAGCACCAGCGGGGACTTGTTGCTGGCTGACTTGGACTCCTCAGGCAGCTGTGACTCTTGAGACTTGTGGGTCTGAATCAGCTCTGGCTGTGTTACTCTTATCAGCTAACAACAGAATCCAGGGCTCAGAGGAGAAAGGGTAGACCCGGGCTTCTACCTTAAATAGCTAAGGGCTGAGGACCTAAAGGAATAATGGCCTTGGCTCTACCCATTCACTCACAGGGAAATAAAACACCCAAACCCAAACTTCCTTTTAGAAGCTATTCTCCCTCCCCACTCCAAGTCCCACCTTTCCCACAATGGGGGCAAAGAAAAGATGTGGTTAGCTGAAGCCCAGATCTACAAGAGAGTATGTTCACGAATCAGAGACAAATGCTGTGGGGGAAGGGAGGAGGAATGCAGGGAGGGTTGGGCTGGGCAGAGGCCAGGAAGAAAGGGCACCTACCTGCTGCAGAGCCTCTAGTACTGTCTGACGGTTCACCTTCAGCACATGCAGCCTGGCCTCATACTTGATCCTGCGGTCGGGCACCACTGCCATCAGGTTGAAGCGGATGTCGTGGTAGGGCTCCCTGCAGTCACAGCCGCAGCCGTGAGAGCAGCTCCCGCCCCGGCCCCGCCATCAGGTTGAGGCAGATATCCTGGCAGGGCTCCCTGCAGTCACACCTGCAGCTGTAGGTATAGGCCCCACCCCAACAGGCAGGCAGCGACTAGCCATACATGCCAGGCACCTGAGCTGGTACCTTCCAACAAGCTGTATGAGGGGCCTATCTGGAAGTGAACCAGCAGACCTGGGCTGCCTAAGGCTCCACTGAGGCCTGCCCCTCCCCCAGCCCACCCAGGAGCAGGCCACAGGCAGCCCAGGCAGGAAATAAGACAACAAGTTGAGAACCCATGATCTAAGCCTGATCTTGCCAGATTCACCATATGGCCTTGCAATTTACAAATCACCTGGATACTCTCTGTCCCTCCCAAAGTAGGTACAGCTCCAGAGAGTAGAACAGGGCAGGCACAGGGCCCTTACCCTGCAGTGGCGAGGCCGATACGCTCCATGATGACCCGCCGGGCCTTGTCTGTCCACTCCTCGTCCTCCCCCCAGGGCCCTAGTGGAGACCAAGACAAGGAATCAGCGAGAAGGAAACCCTGAGTTTGGGCAGGCCAGGAGTGGGAAGGAAGACAGAGAAGAGCAGTTGAGCCAGGGAATCAGGAGCTGGTCGGGCAATATGGTGTAGGGTGAAACCCCAGCCAGAGCCGGGTGTCGGTACCGACAACCCCTGCCACTGGGTACCACATACCAGAGGGCCCTGAGCCCCAGCTCCCTAGGAGGTAGGCAGAGACACCCAACAGGCCTCCAGCTCATGGTGCCTACCATGGTCAATGGGGTAGACCTTCAGCCCATCCAGCTCAAAGAGCCGGCCTGTGATAGGCACATAGCTGACAAAGTGGAACGCCTCCATGGTCCGCACTGCACTAAGGCCATTCTGCTTCTCAGGGAGGTGGCGTGGCTCGGGCCTGGGGAAAAACAGAGTCAGGGCCCAAAAAATGATACTCCCCCTACTCCCACCCCACATCAGCTCCCACAGCTCCCACACACCTGGCATGGCTATTATGGGCCTTGGCCAACTCCGGGGCATTGCCAATCGCATATCCTTTGCTCTACGGGGAAGAAAATAAGGCCGTATCAGAATAATTTCTCCTCAGGTAGGACTATGGGTGGAAGGCAAAGCTTCAGAGAGCAGCCTGGAGGCATTCCAGGAATCGGAAGGAACACAGACGAACTTTCTTAAAAGGCTGGTGGGGGCAGAAAAGAGCTCTGGAGCCCCAAAGAGATGGACTGTGCTGGCCTTGCATGGTAATTAGTGGACACTAGGAAGCAACATGGCCTGAGAGGAAAAGTCCTGACAGAGAAGGTTCTGACATGGTCTGACTTAAGGAAACTCTCCTCCCTCCCTAGGCCTGTGTCCTTTCCCCGCAACTGCATCTAAAAACAATGGCCTTACACAATTTATTTAAGAGTCAAATGTAACATAAACAATCATTTGAAAAAGAAACAGCCTAATAGTACCCAATATCATGTGGTAGCATTCCCAGTGGCCCTCAGGGTCAGATCTGCCCAGTTGGCTGTGAGCCAGGATGAAGGCACTGCAGCCTACCTCAGGGCTGAAACCCTTGGTGAAGTCCTTCATGCGACTCAGGGTGGGTCCCAGGTCCACGCTGCTGCAGTTCAGGAGCACGCTCAGCAAGGCATGAGTTGCACAAGAGTTGGGTATCAGCTGTGAAACCAAGAATAGTCACCCATACACAGCACCCCTCACTGCAAGCCCCAAGCCCATATACATCAAGAATGGGGATCCAGAGCAGGTCAGTCATATCTGGACAACTCCCCTTCTCAGCTCCTTTCATCTTTGCCTAATGTTTATTCATTTAACAAGCACCTACCAAATACCCACTGGATATCTGAGGACACAGAGAGTGGACTCAGACACCCTCCTACTCTAAAGCTGTTCCCTTTAATGAATTAAGAGTTCAGTTCGTTCTGCCAGAGGATTTCTGTAGCTACCACCCCTAGAATCTGCCTATCTCCTCCTCCTGTCTTCCTCCATTTCCACTTCCCAAGCAAAAACATGGCAGCATCCCACCCTCCAAACAAAGCACAGAGTCCAGCAGACCTGGTGGGCAAAGAACATGTTATTCACAATATCATCATCAATCACGGACGTATCATCCACCAAGGTAGAGACCTTTCGCCGGGACCGGCGCTCTTCGATCCATTTGAACAGGAAGATAAATCCATATACAGGGCTGGGGGAAGTAAGGGGCAGAGCCAGATCAGCCAAAGGGGAGAAGACAATCAGCATTCCCTTCTTTCTCCCATTAATCCTTTGCACTGCGTCATCACTCAGGTGTCCTTGCTGTGATCCCCCCTCTCCCCTGGCTTCTTCCCAACACTGTGTCTGAAGTGGCCTTGTGCCCTCACACACCAAAGGCCTGCCACAGGCAGAGCAAAGCATAAGCCTCTGACTGTGATGCTCCAGGAGTCCACCCAGTCTCCTTATGAAGTCTATAGTTCTGGGTAAGAGAAGAAAAGCTGGAACTGAGGGCCAAGGATGGGACAGGGTAGGAACAC
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CAACCCATGAAGTTGTACCAAGGAGCGTGACCTAAACATTTAATCCCACAGCCACGTAACTAGATTAAATTCAAAGGAGCTCTCCCTGCCTCCCTAAGCTCCTGCTGTTGTGGGGGCCTTTTCATATCAGGCAGAGGAACCTAGCAACCCAGGCCCAGGCAGCTTGACCCAGCCATGCCAAGGATGAACACCAAGGAACCACATGGGAAAATTGCCTGTTGCAGCCTCTCAAGAGAATCAAGTAGAGAATCCTGCAAGGGTGCTCCCAGCTTACCTGCATGGGGGACTTGGCATAATTGTGATTGTCTAGAAAGGCCGGCAGCCGCTGGACAATGGGAGTGGGGTTGGGGTGAACCCCATTGAGGCTGCTGCCTGGAGGCTTCACCACTAGCTTGGGTTTGTTGGGAGGGCTGTGGGATGGGGCTTGTGCGCATGAACCAGCCGCCTCCTCTGCACCATCTGAGACAGGGCAAGAACACAGGCAGGACCTCCAGTAGGATCTCCAAGAAAAGCTCACAGTCTCCCCGGCCCTGTGAACCAGCACTTCCCAGAGAAGAACAGCCCAGCCAGCTGGTGCAATGGGAGTCAGCAAGCTCTAAGTCATGATCCCGCAATGAGACAGGGCAAAGAATGAGATGGGAAAAAAGAAGCAGGAAGAAAAAAAAAAAAAAAAAAAAAAAAAAAAACCGCCTCTAGAGAAAACAAGAAAGGGAGTGTACATTACAGAGAAGGGCCCAGGGGCCTGTGGTAACAGCGGCCCTTTACAGGTGCCTTTCTTTAGGGAAGGACTGCTCTCCCTCTACCTTCTGACGGGGGAAGAACACTGCCCAAGGACATCCCCAGAAAAAGACTTTCCCTGTTTAGGCCTCCCATGTCAGACATTAGCGGGTGGCTCTGAGGTCCACAAGAGGTCCCAAACCCCCCAGTACCTGTGTGGTTGCCCTCAGAGGCTGCAGGGGCCCTGTTTGCTTCCAGCACCAGCGGGGACTTGTTGCTGGCTGACTTGGACTCCTCAGGCAGCTGTGACTCTTGAGACTTGTGGGTCTGAATCAGCTCTGGCTGTGTTACTCTTATCAGCTAACAACAGAATCCAGGGCTCAGAGGAGAAAGGGTAGACCCGGGCTTCTACCTTAAATAGCTAAGGGCTGAGGACCTAAAGGAATAATGGCCTTGGCTCTACCCATTCACTCACAGGGAAATAAAACACCCAAACCCAAACTTCCTTTTAGAAGCTATTCTCCCTCCCCACTCCAAGTCCCACCTTTCCCACAATGGGGGCAAAGAAAAGATGTGGTTAGCTGAAGCCCAGATCTACAAGAGAGTATGTTCACGAATCAGAGACAAATGCTGTGGGGGAAGGGAGGAGGAATGCAGGGAGGGTTGGGCTGGGCAGAGGCCAGGAAGAAAGGGCACCTACCTGCTGCAGAGCCTCTAGTACTGTCTGACGGTTCACCTTCAGCACATGCAGCCTGGCCTCATACTTGATCCTGCGGTCGGGCACCACTGCCATCAGGTTGAAGCGGATGTCGTGGTAGGGCTCCCTGCAGTCACAGCCGCAGCCGTGAGAGCAGCTCCCGCCCCGGCCCCGCCATCAGGTTGAGGCAGATATCCTGGCAGGGCTCCCTGCAGTCACACCTGCAGCTGTAGGTATAGGCCCCACCCCAACAGGCAGGCAGCGACTAGCCATACATGCCAGGCACCTGAGCTGGTACCTTCCAACAAGCTGTATGAGGGGCCTATCTGGAAGTGAACCAGCAGACCTGGGCTGCCTAAGGCTCCACTGAGGCCTGCCCCTCCCCCAGCCCACCCAGGAGCAGGCCACAGGCAGCCCAGGCAGGAAATAAGACAACAAGTTGAGAACCCATGATCTAAGCCTGATCTTGCCAGATTCACCATATGGCCTTGCAATTTACAAATCACCTGGATACTCTCTGTCCCTCCCAAAGTAGGTACAGCTCCAGAGAGTAGAACAGGGCAGGCACAGGGCCCTTACCCTGCAGTGGCGAGGCCGATACGCTCCATGATGACCCGCCGGGCCTTGTCTGTCCGCTCCTCGTCCTCCCCCCAGGGCCCTAGTGGAGACCAAGACAAGGAATCAGCGAGAAGGAAACCCTGAGTTTGGGCAGGCCAGGAGTGGGAAGGAAGACAGAGAAGAGCAGTTGAGCCAGGGAATCAGGAGCTGGTCGGGCAATATGGTGTAGGGTGAAACCCCAGCCAGAGCCGGGTGTCGGTACCGACAACCCCTGCCACTGGGTACCACATACCAGAGGGCCCTGAGCCCCAGCTCCCTAGGAGGTAGGCAGAGACACCCAACAGGCCTCCAGCTCATGGTGCCTACCATGGTCAATGGGGTAGACCTTCAGCCCATCCAGCTCAAAGAGCCGGCCTGTGATAGGCACATAGCTGACAAAGTGGAACGCCTCCATGGTCCGCACTGCACTAAGGCCATTCTGCTTCTCAGGGAGGTGGCGTGGCTCGGGCCTGGGGAAAAACAGAGTCAGGGCCCAAAAAATGATACTCCCCCTACTCCCACCCCACATCAGCTCCCACAGCTCCCACACACCTGGCATGGCTATTATGGGCCTTGGCCAACTCCGGGGCATTGCCAATCGCATATCCTTTGCTCTACGGGGAAGAAAATAAGGCCGTATCAGAATAATTTCTCCTCAGGTAGGACTATGGGTGGAAGGCAAAGCTTCAGAGAGCAGCCTGGAGGCATTCCAGGAATCGGAAGGAACACAGACGAACTTTCTTAAAAGGCTGGTGGGGGCAGAAAAGAGCTCTGGAGCCCCAAAGAGATGGACTGTGCTGGCCTTGCATGGTAATTAGTGGACACTAGGAAGCAACATGGCCTGAGAGGAAAAGTCCTGACAGAGAAGGTTCTGACATGGTCTGACTTAAGGAAACTCTCCTCCCTCCCTAGGCCTGTGTCCTTTCCCCGCAACTGCATCTAAAAACAATGGCCTTACACAATTTATTTAAGAGTCAAATGTAACATAAACAATCATTTGAAAAAGAAACAGCCTAATAGTACCCAATATCATGTGGTAGCATTCCCAGTGGCCCTCAGGGTCAGATCTGCCCAGTTGGCTGTGAGCCAGGATGAAGGCACTGCAGCCTACCTCAGGGCTGAAACCCTTGGTGAAGTCCTTCATGCGACTCAGGGTGGGTCCCAGGTCCACGCTGCTGCAGTTCAGGAGCACGCTCAGCAAGGCATGAGTTGCACAAGAGTTGGGTATCAGCTGTGAAACCAAGAATAGTCACCCATACACAGCACCCCTCACTGCAAGCCCCAAGCCCATATACATCAAGAATGGGGATCCAGAGCAGGTCAGTCATATCTGGACAACTCCCCTTCTCAGCTCCTTTCATCTTTGCCTAATGTTTATTCATTTAACAAGCACCTACCAAATACCCACTGGATATCTGAGGACACAGAGAGTGGACTCAGACACCCTCCTACTCTAAAGCTGTTCCCTTTAATGAATTAAGAGTTCAGTTCGTTCTGCCAGAGGATTTCTGTAGCTACCACCCCTAGAATCTGCCTATCTCCTCCTCCTGTCTTCCTCCATTTCCACTTCCCAAGCAAAAACATGGCAGCATCCCACCCTCCAAACAAAGCACAGAGTCCAGCAGACCTGGTGGGCAAAGAACATGTTATTCACAATATCATCATCAATCACGGACGTATCATCCACCAAGGTAGAGACCTTTCGCCGGGACCGGCGCTCTTCGATCCATTTGAACAGGAAGATAAATCCATATACAGGGCTGGGGGAAGTAAGGGGCAGAGCCAGATCAGCCAAAGGGGAGAAGACAATCAGCATTCCCTTCTTTCTCCCATTAATCCTTTGCACTGCGTCATCACTCAGGTGTCCTTGCTGTGATCCCCCCTCTCCCCTGGCTTCTTCCCAACACTGTGTCTGAAGTGGCCTTGTGCCCTCACACACCAAAGGCCTGCCACAGGCAGAGCAAAGCATAAGCCTCTGACTGTGATGCTCCAGGAGTCCACCCAGTCTCCTTATGAAGTCTATAGTTCTGGGTAAGAGAAGAAAAGCTGGAACTGAGGGCCAAGGATGGGACAGGGTAGGAACAC
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Task1_train_7069
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Here is a mutation in BAP1 (BRCA1 associated deubiquitinase 1) on Chromosome 3. Determine whether it’s benign or pathogenic. If the latter, what disease does it cause?
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Pathogenic; Hereditary cancer-predisposing syndrome
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CAACCCATGAAGTTGTACCAAGGAGCGTGACCTAAACATTTAATCCCACAGCCACGTAACTAGATTAAATTCAAAGGAGCTCTCCCTGCCTCCCTAAGCTCCTGCTGTTGTGGGGGCCTTTTCATATCAGGCAGAGGAACCTAGCAACCCAGGCCCAGGCAGCTTGACCCAGCCATGCCAAGGATGAACACCAAGGAACCACATGGGAAAATTGCCTGTTGCAGCCTCTCAAGAGAATCAAGTAGAGAATCCTGCAAGGGTGCTCCCAGCTTACCTGCATGGGGGACTTGGCATAATTGTGATTGTCTAGAAAGGCCGGCAGCCGCTGGACAATGGGAGTGGGGTTGGGGTGAACCCCATTGAGGCTGCTGCCTGGAGGCTTCACCACTAGCTTGGGTTTGTTGGGAGGGCTGTGGGATGGGGCTTGTGCGCATGAACCAGCCGCCTCCTCTGCACCATCTGAGACAGGGCAAGAACACAGGCAGGACCTCCAGTAGGATCTCCAAGAAAAGCTCACAGTCTCCCCGGCCCTGTGAACCAGCACTTCCCAGAGAAGAACAGCCCAGCCAGCTGGTGCAATGGGAGTCAGCAAGCTCTAAGTCATGATCCCGCAATGAGACAGGGCAAAGAATGAGATGGGAAAAAAGAAGCAGGAAGAAAAAAAAAAAAAAAAAAAAAAAAAAAAACCGCCTCTAGAGAAAACAAGAAAGGGAGTGTACATTACAGAGAAGGGCCCAGGGGCCTGTGGTAACAGCGGCCCTTTACAGGTGCCTTTCTTTAGGGAAGGACTGCTCTCCCTCTACCTTCTGACGGGGGAAGAACACTGCCCAAGGACATCCCCAGAAAAAGACTTTCCCTGTTTAGGCCTCCCATGTCAGACATTAGCGGGTGGCTCTGAGGTCCACAAGAGGTCCCAAACCCCCCAGTACCTGTGTGGTTGCCCTCAGAGGCTGCAGGGGCCCTGTTTGCTTCCAGCACCAGCGGGGACTTGTTGCTGGCTGACTTGGACTCCTCAGGCAGCTGTGACTCTTGAGACTTGTGGGTCTGAATCAGCTCTGGCTGTGTTACTCTTATCAGCTAACAACAGAATCCAGGGCTCAGAGGAGAAAGGGTAGACCCGGGCTTCTACCTTAAATAGCTAAGGGCTGAGGACCTAAAGGAATAATGGCCTTGGCTCTACCCATTCACTCACAGGGAAATAAAACACCCAAACCCAAACTTCCTTTTAGAAGCTATTCTCCCTCCCCACTCCAAGTCCCACCTTTCCCACAATGGGGGCAAAGAAAAGATGTGGTTAGCTGAAGCCCAGATCTACAAGAGAGTATGTTCACGAATCAGAGACAAATGCTGTGGGGGAAGGGAGGAGGAATGCAGGGAGGGTTGGGCTGGGCAGAGGCCAGGAAGAAAGGGCACCTACCTGCTGCAGAGCCTCTAGTACTGTCTGACGGTTCACCTTCAGCACATGCAGCCTGGCCTCATACTTGATCCTGCGGTCGGGCACCACTGCCATCAGGTTGAAGCGGATGTCGTGGTAGGGCTCCCTGCAGTCACAGCCGCAGCCGTGAGAGCAGCTCCCGCCCCGGCCCCGCCATCAGGTTGAGGCAGATATCCTGGCAGGGCTCCCTGCAGTCACACCTGCAGCTGTAGGTATAGGCCCCACCCCAACAGGCAGGCAGCGACTAGCCATACATGCCAGGCACCTGAGCTGGTACCTTCCAACAAGCTGTATGAGGGGCCTATCTGGAAGTGAACCAGCAGACCTGGGCTGCCTAAGGCTCCACTGAGGCCTGCCCCTCCCCCAGCCCACCCAGGAGCAGGCCACAGGCAGCCCAGGCAGGAAATAAGACAACAAGTTGAGAACCCATGATCTAAGCCTGATCTTGCCAGATTCACCATATGGCCTTGCAATTTACAAATCACCTGGATACTCTCTGTCCCTCCCAAAGTAGGTACAGCTCCAGAGAGTAGAACAGGGCAGGCACAGGGCCCTTACCCTGCAGTGGCGAGGCCGATACGCTCCATGATGACCCGCCGGGCCTTGTCTGTCCACTCCTCGTCCTCCCCCCAGGGCCCTAGTGGAGACCAAGACAAGGAATCAGCGAGAAGGAAACCCTGAGTTTGGGCAGGCCAGGAGTGGGAAGGAAGACAGAGAAGAGCAGTTGAGCCAGGGAATCAGGAGCTGGTCGGGCAATATGGTGTAGGGTGAAACCCCAGCCAGAGCCGGGTGTCGGTACCGACAACCCCTGCCACTGGGTACCACATACCAGAGGGCCCTGAGCCCCAGCTCCCTAGGAGGTAGGCAGAGACACCCAACAGGCCTCCAGCTCATGGTGCCTACCATGGTCAATGGGGTAGACCTTCAGCCCATCCAGCTCAAAGAGCCGGCCTGTGATAGGCACATAGCTGACAAAGTGGAACGCCTCCATGGTCCGCACTGCACTAAGGCCATTCTGCTTCTCAGGGAGGTGGCGTGGCTCGGGCCTGGGGAAAAACAGAGTCAGGGCCCAAAAAATGATACTCCCCCTACTCCCACCCCACATCAGCTCCCACAGCTCCCACACACCTGGCATGGCTATTATGGGCCTTGGCCAACTCCGGGGCATTGCCAATCGCATATCCTTTGCTCTACGGGGAAGAAAATAAGGCCGTATCAGAATAATTTCTCCTCAGGTAGGACTATGGGTGGAAGGCAAAGCTTCAGAGAGCAGCCTGGAGGCATTCCAGGAATCGGAAGGAACACAGACGAACTTTCTTAAAAGGCTGGTGGGGGCAGAAAAGAGCTCTGGAGCCCCAAAGAGATGGACTGTGCTGGCCTTGCATGGTAATTAGTGGACACTAGGAAGCAACATGGCCTGAGAGGAAAAGTCCTGACAGAGAAGGTTCTGACATGGTCTGACTTAAGGAAACTCTCCTCCCTCCCTAGGCCTGTGTCCTTTCCCCGCAACTGCATCTAAAAACAATGGCCTTACACAATTTATTTAAGAGTCAAATGTAACATAAACAATCATTTGAAAAAGAAACAGCCTAATAGTACCCAATATCATGTGGTAGCATTCCCAGTGGCCCTCAGGGTCAGATCTGCCCAGTTGGCTGTGAGCCAGGATGAAGGCACTGCAGCCTACCTCAGGGCTGAAACCCTTGGTGAAGTCCTTCATGCGACTCAGGGTGGGTCCCAGGTCCACGCTGCTGCAGTTCAGGAGCACGCTCAGCAAGGCATGAGTTGCACAAGAGTTGGGTATCAGCTGTGAAACCAAGAATAGTCACCCATACACAGCACCCCTCACTGCAAGCCCCAAGCCCATATACATCAAGAATGGGGATCCAGAGCAGGTCAGTCATATCTGGACAACTCCCCTTCTCAGCTCCTTTCATCTTTGCCTAATGTTTATTCATTTAACAAGCACCTACCAAATACCCACTGGATATCTGAGGACACAGAGAGTGGACTCAGACACCCTCCTACTCTAAAGCTGTTCCCTTTAATGAATTAAGAGTTCAGTTCGTTCTGCCAGAGGATTTCTGTAGCTACCACCCCTAGAATCTGCCTATCTCCTCCTCCTGTCTTCCTCCATTTCCACTTCCCAAGCAAAAACATGGCAGCATCCCACCCTCCAAACAAAGCACAGAGTCCAGCAGACCTGGTGGGCAAAGAACATGTTATTCACAATATCATCATCAATCACGGACGTATCATCCACCAAGGTAGAGACCTTTCGCCGGGACCGGCGCTCTTCGATCCATTTGAACAGGAAGATAAATCCATATACAGGGCTGGGGGAAGTAAGGGGCAGAGCCAGATCAGCCAAAGGGGAGAAGACAATCAGCATTCCCTTCTTTCTCCCATTAATCCTTTGCACTGCGTCATCACTCAGGTGTCCTTGCTGTGATCCCCCCTCTCCCCTGGCTTCTTCCCAACACTGTGTCTGAAGTGGCCTTGTGCCCTCACACACCAAAGGCCTGCCACAGGCAGAGCAAAGCATAAGCCTCTGACTGTGATGCTCCAGGAGTCCACCCAGTCTCCTTATGAAGTCTATAGTTCTGGGTAAGAGAAGAAAAGCTGGAACTGAGGGCCAAGGATGGGACAGGGTAGGAACAC
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CAACCCATGAAGTTGTACCAAGGAGCGTGACCTAAACATTTAATCCCACAGCCACGTAACTAGATTAAATTCAAAGGAGCTCTCCCTGCCTCCCTAAGCTCCTGCTGTTGTGGGGGCCTTTTCATATCAGGCAGAGGAACCTAGCAACCCAGGCCCAGGCAGCTTGACCCAGCCATGCCAAGGATGAACACCAAGGAACCACATGGGAAAATTGCCTGTTGCAGCCTCTCAAGAGAATCAAGTAGAGAATCCTGCAAGGGTGCTCCCAGCTTACCTGCATGGGGGACTTGGCATAATTGTGATTGTCTAGAAAGGCCGGCAGCCGCTGGACAATGGGAGTGGGGTTGGGGTGAACCCCATTGAGGCTGCTGCCTGGAGGCTTCACCACTAGCTTGGGTTTGTTGGGAGGGCTGTGGGATGGGGCTTGTGCGCATGAACCAGCCGCCTCCTCTGCACCATCTGAGACAGGGCAAGAACACAGGCAGGACCTCCAGTAGGATCTCCAAGAAAAGCTCACAGTCTCCCCGGCCCTGTGAACCAGCACTTCCCAGAGAAGAACAGCCCAGCCAGCTGGTGCAATGGGAGTCAGCAAGCTCTAAGTCATGATCCCGCAATGAGACAGGGCAAAGAATGAGATGGGAAAAAAGAAGCAGGAAGAAAAAAAAAAAAAAAAAAAAAAAAAAAAACCGCCTCTAGAGAAAACAAGAAAGGGAGTGTACATTACAGAGAAGGGCCCAGGGGCCTGTGGTAACAGCGGCCCTTTACAGGTGCCTTTCTTTAGGGAAGGACTGCTCTCCCTCTACCTTCTGACGGGGGAAGAACACTGCCCAAGGACATCCCCAGAAAAAGACTTTCCCTGTTTAGGCCTCCCATGTCAGACATTAGCGGGTGGCTCTGAGGTCCACAAGAGGTCCCAAACCCCCCAGTACCTGTGTGGTTGCCCTCAGAGGCTGCAGGGGCCCTGTTTGCTTCCAGCACCAGCGGGGACTTGTTGCTGGCTGACTTGGACTCCTCAGGCAGCTGTGACTCTTGAGACTTGTGGGTCTGAATCAGCTCTGGCTGTGTTACTCTTATCAGCTAACAACAGAATCCAGGGCTCAGAGGAGAAAGGGTAGACCCGGGCTTCTACCTTAAATAGCTAAGGGCTGAGGACCTAAAGGAATAATGGCCTTGGCTCTACCCATTCACTCACAGGGAAATAAAACACCCAAACCCAAACTTCCTTTTAGAAGCTATTCTCCCTCCCCACTCCAAGTCCCACCTTTCCCACAATGGGGGCAAAGAAAAGATGTGGTTAGCTGAAGCCCAGATCTACAAGAGAGTATGTTCACGAATCAGAGACAAATGCTGTGGGGGAAGGGAGGAGGAATGCAGGGAGGGTTGGGCTGGGCAGAGGCCAGGAAGAAAGGGCACCTACCTGCTGCAGAGCCTCTAGTACTGTCTGACGGTTCACCTTCAGCACATGCAGCCTGGCCTCATACTTGATCCTGCGGTCGGGCACCACTGCCATCAGGTTGAAGCGGATGTCGTGGTAGGGCTCCCTGCAGTCACAGCCGCAGCCGTGAGAGCAGCTCCCGCCCCGGCCCCGCCATCAGGTTGAGGCAGATATCCTGGCAGGGCTCCCTGCAGTCACACCTGCAGCTGTAGGTATAGGCCCCACCCCAACAGGCAGGCAGCGACTAGCCATACATGCCAGGCACCTGAGCTGGTACCTTCCAACAAGCTGTATGAGGGGCCTATCTGGAAGTGAACCAGCAGACCTGGGCTGCCTAAGGCTCCACTGAGGCCTGCCCCTCCCCCAGCCCACCCAGGAGCAGGCCACAGGCAGCCCAGGCAGGAAATAAGACAACAAGTTGAGAACCCATGATCTAAGCCTGATCTTGCCAGATTCACCATATGGCCTTGCAATTTACAAATCACCTGGATACTCTCTGTCCCTCCCAAAGTAGGTACAGCTCCAGAGAGTAGAACAGGGCAGGCACAGGGCCCTTACCCTGCAGTGGCGAGGCCGATACGCTCCATGATGACCCGCCGGGCCTTGTCTGTCCGCTCCTCGTCCTCCCCCCAGGGCCCTAGTGGAGACCAAGACAAGGAATCAGCGAGAAGGAAACCCTGAGTTTGGGCAGGCCAGGAGTGGGAAGGAAGACAGAGAAGAGCAGTTGAGCCAGGGAATCAGGAGCTGGTCGGGCAATATGGTGTAGGGTGAAACCCCAGCCAGAGCCGGGTGTCGGTACCGACAACCCCTGCCACTGGGTACCACATACCAGAGGGCCCTGAGCCCCAGCTCCCTAGGAGGTAGGCAGAGACACCCAACAGGCCTCCAGCTCATGGTGCCTACCATGGTCAATGGGGTAGACCTTCAGCCCATCCAGCTCAAAGAGCCGGCCTGTGATAGGCACATAGCTGACAAAGTGGAACGCCTCCATGGTCCGCACTGCACTAAGGCCATTCTGCTTCTCAGGGAGGTGGCGTGGCTCGGGCCTGGGGAAAAACAGAGTCAGGGCCCAAAAAATGATACTCCCCCTACTCCCACCCCACATCAGCTCCCACAGCTCCCACACACCTGGCATGGCTATTATGGGCCTTGGCCAACTCCGGGGCATTGCCAATCGCATATCCTTTGCTCTACGGGGAAGAAAATAAGGCCGTATCAGAATAATTTCTCCTCAGGTAGGACTATGGGTGGAAGGCAAAGCTTCAGAGAGCAGCCTGGAGGCATTCCAGGAATCGGAAGGAACACAGACGAACTTTCTTAAAAGGCTGGTGGGGGCAGAAAAGAGCTCTGGAGCCCCAAAGAGATGGACTGTGCTGGCCTTGCATGGTAATTAGTGGACACTAGGAAGCAACATGGCCTGAGAGGAAAAGTCCTGACAGAGAAGGTTCTGACATGGTCTGACTTAAGGAAACTCTCCTCCCTCCCTAGGCCTGTGTCCTTTCCCCGCAACTGCATCTAAAAACAATGGCCTTACACAATTTATTTAAGAGTCAAATGTAACATAAACAATCATTTGAAAAAGAAACAGCCTAATAGTACCCAATATCATGTGGTAGCATTCCCAGTGGCCCTCAGGGTCAGATCTGCCCAGTTGGCTGTGAGCCAGGATGAAGGCACTGCAGCCTACCTCAGGGCTGAAACCCTTGGTGAAGTCCTTCATGCGACTCAGGGTGGGTCCCAGGTCCACGCTGCTGCAGTTCAGGAGCACGCTCAGCAAGGCATGAGTTGCACAAGAGTTGGGTATCAGCTGTGAAACCAAGAATAGTCACCCATACACAGCACCCCTCACTGCAAGCCCCAAGCCCATATACATCAAGAATGGGGATCCAGAGCAGGTCAGTCATATCTGGACAACTCCCCTTCTCAGCTCCTTTCATCTTTGCCTAATGTTTATTCATTTAACAAGCACCTACCAAATACCCACTGGATATCTGAGGACACAGAGAGTGGACTCAGACACCCTCCTACTCTAAAGCTGTTCCCTTTAATGAATTAAGAGTTCAGTTCGTTCTGCCAGAGGATTTCTGTAGCTACCACCCCTAGAATCTGCCTATCTCCTCCTCCTGTCTTCCTCCATTTCCACTTCCCAAGCAAAAACATGGCAGCATCCCACCCTCCAAACAAAGCACAGAGTCCAGCAGACCTGGTGGGCAAAGAACATGTTATTCACAATATCATCATCAATCACGGACGTATCATCCACCAAGGTAGAGACCTTTCGCCGGGACCGGCGCTCTTCGATCCATTTGAACAGGAAGATAAATCCATATACAGGGCTGGGGGAAGTAAGGGGCAGAGCCAGATCAGCCAAAGGGGAGAAGACAATCAGCATTCCCTTCTTTCTCCCATTAATCCTTTGCACTGCGTCATCACTCAGGTGTCCTTGCTGTGATCCCCCCTCTCCCCTGGCTTCTTCCCAACACTGTGTCTGAAGTGGCCTTGTGCCCTCACACACCAAAGGCCTGCCACAGGCAGAGCAAAGCATAAGCCTCTGACTGTGATGCTCCAGGAGTCCACCCAGTCTCCTTATGAAGTCTATAGTTCTGGGTAAGAGAAGAAAAGCTGGAACTGAGGGCCAAGGATGGGACAGGGTAGGAACAC
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Task1_train_7070
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This alteration occurs within gene BAP1 (BRCA1 associated deubiquitinase 1) located on Chromosome 3. Is it associated with a disease or is it a benign variant?
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Pathogenic; not provided
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TACCCATTCACTCACAGGGAAATAAAACACCCAAACCCAAACTTCCTTTTAGAAGCTATTCTCCCTCCCCACTCCAAGTCCCACCTTTCCCACAATGGGGGCAAAGAAAAGATGTGGTTAGCTGAAGCCCAGATCTACAAGAGAGTATGTTCACGAATCAGAGACAAATGCTGTGGGGGAAGGGAGGAGGAATGCAGGGAGGGTTGGGCTGGGCAGAGGCCAGGAAGAAAGGGCACCTACCTGCTGCAGAGCCTCTAGTACTGTCTGACGGTTCACCTTCAGCACATGCAGCCTGGCCTCATACTTGATCCTGCGGTCGGGCACCACTGCCATCAGGTTGAAGCGGATGTCGTGGTAGGGCTCCCTGCAGTCACAGCCGCAGCCGTGAGAGCAGCTCCCGCCCCGGCCCCGCCATCAGGTTGAGGCAGATATCCTGGCAGGGCTCCCTGCAGTCACACCTGCAGCTGTAGGTATAGGCCCCACCCCAACAGGCAGGCAGCGACTAGCCATACATGCCAGGCACCTGAGCTGGTACCTTCCAACAAGCTGTATGAGGGGCCTATCTGGAAGTGAACCAGCAGACCTGGGCTGCCTAAGGCTCCACTGAGGCCTGCCCCTCCCCCAGCCCACCCAGGAGCAGGCCACAGGCAGCCCAGGCAGGAAATAAGACAACAAGTTGAGAACCCATGATCTAAGCCTGATCTTGCCAGATTCACCATATGGCCTTGCAATTTACAAATCACCTGGATACTCTCTGTCCCTCCCAAAGTAGGTACAGCTCCAGAGAGTAGAACAGGGCAGGCACAGGGCCCTTACCCTGCAGTGGCGAGGCCGATACGCTCCATGATGACCCGCCGGGCCTTGTCTGTCCACTCCTCGTCCTCCCCCCAGGGCCCTAGTGGAGACCAAGACAAGGAATCAGCGAGAAGGAAACCCTGAGTTTGGGCAGGCCAGGAGTGGGAAGGAAGACAGAGAAGAGCAGTTGAGCCAGGGAATCAGGAGCTGGTCGGGCAATATGGTGTAGGGTGAAACCCCAGCCAGAGCCGGGTGTCGGTACCGACAACCCCTGCCACTGGGTACCACATACCAGAGGGCCCTGAGCCCCAGCTCCCTAGGAGGTAGGCAGAGACACCCAACAGGCCTCCAGCTCATGGTGCCTACCATGGTCAATGGGGTAGACCTTCAGCCCATCCAGCTCAAAGAGCCGGCCTGTGATAGGCACATAGCTGACAAAGTGGAACGCCTCCATGGTCCGCACTGCACTAAGGCCATTCTGCTTCTCAGGGAGGTGGCGTGGCTCGGGCCTGGGGAAAAACAGAGTCAGGGCCCAAAAAATGATACTCCCCCTACTCCCACCCCACATCAGCTCCCACAGCTCCCACACACCTGGCATGGCTATTATGGGCCTTGGCCAACTCCGGGGCATTGCCAATCGCATATCCTTTGCTCTACGGGGAAGAAAATAAGGCCGTATCAGAATAATTTCTCCTCAGGTAGGACTATGGGTGGAAGGCAAAGCTTCAGAGAGCAGCCTGGAGGCATTCCAGGAATCGGAAGGAACACAGACGAACTTTCTTAAAAGGCTGGTGGGGGCAGAAAAGAGCTCTGGAGCCCCAAAGAGATGGACTGTGCTGGCCTTGCATGGTAATTAGTGGACACTAGGAAGCAACATGGCCTGAGAGGAAAAGTCCTGACAGAGAAGGTTCTGACATGGTCTGACTTAAGGAAACTCTCCTCCCTCCCTAGGCCTGTGTCCTTTCCCCGCAACTGCATCTAAAAACAATGGCCTTACACAATTTATTTAAGAGTCAAATGTAACATAAACAATCATTTGAAAAAGAAACAGCCTAATAGTACCCAATATCATGTGGTAGCATTCCCAGTGGCCCTCAGGGTCAGATCTGCCCAGTTGGCTGTGAGCCAGGATGAAGGCACTGCAGCCTACCTCAGGGCTGAAACCCTTGGTGAAGTCCTTCATGCGACTCAGGGTGGGTCCCAGGTCCACGCTGCTGCAGTTCAGGAGCACGCTCAGCAAGGCATGAGTTGCACAAGAGTTGGGTATCAGCTGTGAAACCAAGAATAGTCACCCATACACAGCACCCCTCACTGCAAGCCCCAAGCCCATATACATCAAGAATGGGGATCCAGAGCAGGTCAGTCATATCTGGACAACTCCCCTTCTCAGCTCCTTTCATCTTTGCCTAATGTTTATTCATTTAACAAGCACCTACCAAATACCCACTGGATATCTGAGGACACAGAGAGTGGACTCAGACACCCTCCTACTCTAAAGCTGTTCCCTTTAATGAATTAAGAGTTCAGTTCGTTCTGCCAGAGGATTTCTGTAGCTACCACCCCTAGAATCTGCCTATCTCCTCCTCCTGTCTTCCTCCATTTCCACTTCCCAAGCAAAAACATGGCAGCATCCCACCCTCCAAACAAAGCACAGAGTCCAGCAGACCTGGTGGGCAAAGAACATGTTATTCACAATATCATCATCAATCACGGACGTATCATCCACCAAGGTAGAGACCTTTCGCCGGGACCGGCGCTCTTCGATCCATTTGAACAGGAAGATAAATCCATATACAGGGCTGGGGGAAGTAAGGGGCAGAGCCAGATCAGCCAAAGGGGAGAAGACAATCAGCATTCCCTTCTTTCTCCCATTAATCCTTTGCACTGCGTCATCACTCAGGTGTCCTTGCTGTGATCCCCCCTCTCCCCTGGCTTCTTCCCAACACTGTGTCTGAAGTGGCCTTGTGCCCTCACACACCAAAGGCCTGCCACAGGCAGAGCAAAGCATAAGCCTCTGACTGTGATGCTCCAGGAGTCCACCCAGTCTCCTTATGAAGTCTATAGTTCTGGGTAAGAGAAGAAAAGCTGGAACTGAGGGCCAAGGATGGGACAGGGTAGGAACACAAAGTAAGACAAGAACAAAAACTCTGATGAGGAACTGAGGCACTCCTTCTCACTTGTGGGCCCCAATGCAGTCAGGAAAGCAAATGAACACCCACACCAGTCTCTTTTGTTCCAGGAAATTAAAGTAGACTTCTTGGTTCAGTCACGGTTGCTACTGTTGCTACTCTCTTACACATCTATTCTGCAGGACCACTGGGAAAAGACTCTAAGTGTGGGCACCCAGGAGGGGCCTTGTCACCCCAACCAATCAATACAGGATGACTTTGTGTCAGGATTAAAGCCAAGGACACATGGGCACACTAAAATTAATACATTACACAACTGCACAAAAGACATTGTGTGACCGGGGTCTTCCCGCTGCAAGGCCAGGAAAGCAGCTGAACCAAAGGATGCTTAGGGGTGGGGAGGGGGCTGCTACAAAAAGGGAAGCGCTAAGGAAAGTTTGGGAGAAAAGAAAGTATCAGTTTGATCAGGAGCGGGCACTCAGAGAGCAAGGCTGCTGCTTTCTGTGAGATTTTACAACGTAGGGTTCCTGGCACTGTCTTCCCTAAGGGGCCCTGTTCTCTGGGACCTTCCCCAGCACTCTGGGTGTAAGGGGCAGCCCTGGTGTACAGCCACTCACCCCTGACATTTGCTCTGAAGGTCGTAGATCTCCTCCACTTGCACCCCCTTGACACCTGCGATGAGGAAAGGAAAGCAGTAGGGAAGGACAGCCCCTGATGAGTGAGGGCGCAGGGGTGGGCCGCCACAGCCCCGGTCCGGCAGGGAGAAAAGGCTCTTACCGAAATCTTCCACGAGCAGGGTGAAGAGGCCTGGGTGGGGCGACAAGAGGAGGGGGTGATGGTCAGGCAGGCGCGTCCCGGGCCCATCCGGCCTCCCCAGCCCCTGGCCCTCCCGGTCCCCTCCTCACCTGGGTCGCTCTCCAGCTCCAGCCAGCCCTTATTCATCTTCCCGCGGGGCGGCCCCTCAGCGCCATGTCCAGGCCCTCCCTCCCCACCGCTGCCCCCACCGGGAGCCCCCACCGCCCCCGGGGCCCCTCAGTCCCACACACAGACAACGGGCCCAGTCGCGTCACCCGCCCGCGCCGGCGGCAGACGTCACCAAGGCGCGACGGCCCTGCTCCGCCTCTGGGCTCGTCTTCCGCCTGTCGGACAGCAGATGCGGGCATGCGCTCGAA
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TACCCATTCACTCACAGGGAAATAAAACACCCAAACCCAAACTTCCTTTTAGAAGCTATTCTCCCTCCCCACTCCAAGTCCCACCTTTCCCACAATGGGGGCAAAGAAAAGATGTGGTTAGCTGAAGCCCAGATCTACAAGAGAGTATGTTCACGAATCAGAGACAAATGCTGTGGGGGAAGGGAGGAGGAATGCAGGGAGGGTTGGGCTGGGCAGAGGCCAGGAAGAAAGGGCACCTACCTGCTGCAGAGCCTCTAGTACTGTCTGACGGTTCACCTTCAGCACATGCAGCCTGGCCTCATACTTGATCCTGCGGTCGGGCACCACTGCCATCAGGTTGAAGCGGATGTCGTGGTAGGGCTCCCTGCAGTCACAGCCGCAGCCGTGAGAGCAGCTCCCGCCCCGGCCCCGCCATCAGGTTGAGGCAGATATCCTGGCAGGGCTCCCTGCAGTCACACCTGCAGCTGTAGGTATAGGCCCCACCCCAACAGGCAGGCAGCGACTAGCCATACATGCCAGGCACCTGAGCTGGTACCTTCCAACAAGCTGTATGAGGGGCCTATCTGGAAGTGAACCAGCAGACCTGGGCTGCCTAAGGCTCCACTGAGGCCTGCCCCTCCCCCAGCCCACCCAGGAGCAGGCCACAGGCAGCCCAGGCAGGAAATAAGACAACAAGTTGAGAACCCATGATCTAAGCCTGATCTTGCCAGATTCACCATATGGCCTTGCAATTTACAAATCACCTGGATACTCTCTGTCCCTCCCAAAGTAGGTACAGCTCCAGAGAGTAGAACAGGGCAGGCACAGGGCCCTTACCCTGCAGTGGCGAGGCCGATACGCTCCATGATGACCCGCCGGGCCTTGTCTGTCCACTCCTCGTCCTCCCCCCAGGGCCCTAGTGGAGACCAAGACAAGGAATCAGCGAGAAGGAAACCCTGAGTTTGGGCAGGCCAGGAGTGGGAAGGAAGACAGAGAAGAGCAGTTGAGCCAGGGAATCAGGAGCTGGTCGGGCAATATGGTGTAGGGTGAAACCCCAGCCAGAGCCGGGTGTCGGTACCGACAACCCCTGCCACTGGGTACCACATACCAGAGGGCCCTGAGCCCCAGCTCCCTAGGAGGTAGGCAGAGACACCCAACAGGCCTCCAGCTCATGGTGCCTACCATGGTCAATGGGGTAGACCTTCAGCCCATCCAGCTCAAAGAGCCGGCCTGTGATAGGCACATAGCTGACAAAGTGGAACGCCTCCATGGTCCGCACTGCACTAAGGCCATTCTGCTTCTCAGGGAGGTGGCGTGGCTCGGGCCTGGGGAAAAACAGAGTCAGGGCCCAAAAAATGATACTCCCCCTACTCCCACCCCACATCAGCTCCCACAGCTCCCACACACCTGGCATGGCTATTATGGGCCTTGGCCAACTCCGGGGCATTGCCAATCGCATATCCTTTGCTCTACGGGGAAGAAAATAAGGCCGTATCAGAATAATTTCTCCTCAGGTAGGACTATGGGTGGAAGGCAAAGCTTCAGAGAGCAGCCTGGAGGCATTCCAGGAATCGGAAGGAACACAGACGAACTTTCTTAAAAGGCTGGTGGGGGCAGAAAAGAGCTCTGGAGCCCCAAAGAGATGGACTGTGCTGGCCTTGCATGGTAATTAGTGGACACTAGGAAGCAACATGGCCTGAGAGGAAAAGTCCTGACAGAGAAGGTTCTGACATGGTCTGACTTAAGGAAACTCTCCTCCCTCCCTAGGCCTGTGTCCTTTCCCCGCAACTGCATCTAAAAACAATGGCCTTACACAATTTATTTAAGAGTCAAATGTAACATAAACAATCATTTGAAAAAGAAACAGCCTAATAGTACCCAATATCATGTGGTAGCATTCCCAGTGGCCCTCAGGGTCAGATCTGCCCAGTTGGCTGTGAGCCAGGATGAAGGCACTGCAGCCTACCTCAGGGCTGAAACCCTTGGTGAAGTCCTTCATGCGACTCAGGGTGGGTCCCAGGTCCACGCTGCTGCAGTTCAGGAGCACGCTCAGCAAGGCATGAGTTGCAGAAGAGTTGGGTATCAGCTGTGAAACCAAGAATAGTCACCCATACACAGCACCCCTCACTGCAAGCCCCAAGCCCATATACATCAAGAATGGGGATCCAGAGCAGGTCAGTCATATCTGGACAACTCCCCTTCTCAGCTCCTTTCATCTTTGCCTAATGTTTATTCATTTAACAAGCACCTACCAAATACCCACTGGATATCTGAGGACACAGAGAGTGGACTCAGACACCCTCCTACTCTAAAGCTGTTCCCTTTAATGAATTAAGAGTTCAGTTCGTTCTGCCAGAGGATTTCTGTAGCTACCACCCCTAGAATCTGCCTATCTCCTCCTCCTGTCTTCCTCCATTTCCACTTCCCAAGCAAAAACATGGCAGCATCCCACCCTCCAAACAAAGCACAGAGTCCAGCAGACCTGGTGGGCAAAGAACATGTTATTCACAATATCATCATCAATCACGGACGTATCATCCACCAAGGTAGAGACCTTTCGCCGGGACCGGCGCTCTTCGATCCATTTGAACAGGAAGATAAATCCATATACAGGGCTGGGGGAAGTAAGGGGCAGAGCCAGATCAGCCAAAGGGGAGAAGACAATCAGCATTCCCTTCTTTCTCCCATTAATCCTTTGCACTGCGTCATCACTCAGGTGTCCTTGCTGTGATCCCCCCTCTCCCCTGGCTTCTTCCCAACACTGTGTCTGAAGTGGCCTTGTGCCCTCACACACCAAAGGCCTGCCACAGGCAGAGCAAAGCATAAGCCTCTGACTGTGATGCTCCAGGAGTCCACCCAGTCTCCTTATGAAGTCTATAGTTCTGGGTAAGAGAAGAAAAGCTGGAACTGAGGGCCAAGGATGGGACAGGGTAGGAACACAAAGTAAGACAAGAACAAAAACTCTGATGAGGAACTGAGGCACTCCTTCTCACTTGTGGGCCCCAATGCAGTCAGGAAAGCAAATGAACACCCACACCAGTCTCTTTTGTTCCAGGAAATTAAAGTAGACTTCTTGGTTCAGTCACGGTTGCTACTGTTGCTACTCTCTTACACATCTATTCTGCAGGACCACTGGGAAAAGACTCTAAGTGTGGGCACCCAGGAGGGGCCTTGTCACCCCAACCAATCAATACAGGATGACTTTGTGTCAGGATTAAAGCCAAGGACACATGGGCACACTAAAATTAATACATTACACAACTGCACAAAAGACATTGTGTGACCGGGGTCTTCCCGCTGCAAGGCCAGGAAAGCAGCTGAACCAAAGGATGCTTAGGGGTGGGGAGGGGGCTGCTACAAAAAGGGAAGCGCTAAGGAAAGTTTGGGAGAAAAGAAAGTATCAGTTTGATCAGGAGCGGGCACTCAGAGAGCAAGGCTGCTGCTTTCTGTGAGATTTTACAACGTAGGGTTCCTGGCACTGTCTTCCCTAAGGGGCCCTGTTCTCTGGGACCTTCCCCAGCACTCTGGGTGTAAGGGGCAGCCCTGGTGTACAGCCACTCACCCCTGACATTTGCTCTGAAGGTCGTAGATCTCCTCCACTTGCACCCCCTTGACACCTGCGATGAGGAAAGGAAAGCAGTAGGGAAGGACAGCCCCTGATGAGTGAGGGCGCAGGGGTGGGCCGCCACAGCCCCGGTCCGGCAGGGAGAAAAGGCTCTTACCGAAATCTTCCACGAGCAGGGTGAAGAGGCCTGGGTGGGGCGACAAGAGGAGGGGGTGATGGTCAGGCAGGCGCGTCCCGGGCCCATCCGGCCTCCCCAGCCCCTGGCCCTCCCGGTCCCCTCCTCACCTGGGTCGCTCTCCAGCTCCAGCCAGCCCTTATTCATCTTCCCGCGGGGCGGCCCCTCAGCGCCATGTCCAGGCCCTCCCTCCCCACCGCTGCCCCCACCGGGAGCCCCCACCGCCCCCGGGGCCCCTCAGTCCCACACACAGACAACGGGCCCAGTCGCGTCACCCGCCCGCGCCGGCGGCAGACGTCACCAAGGCGCGACGGCCCTGCTCCGCCTCTGGGCTCGTCTTCCGCCTGTCGGACAGCAGATGCGGGCATGCGCTCGAA
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Task1_train_7071
|
A genomic change on Chromosome 3 affects BAP1 (BRCA1 associated deubiquitinase 1). Classify this variant as benign or pathogenic, and name the disease if relevant.
|
Pathogenic; not provided
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CAGGCAGCGACTAGCCATACATGCCAGGCACCTGAGCTGGTACCTTCCAACAAGCTGTATGAGGGGCCTATCTGGAAGTGAACCAGCAGACCTGGGCTGCCTAAGGCTCCACTGAGGCCTGCCCCTCCCCCAGCCCACCCAGGAGCAGGCCACAGGCAGCCCAGGCAGGAAATAAGACAACAAGTTGAGAACCCATGATCTAAGCCTGATCTTGCCAGATTCACCATATGGCCTTGCAATTTACAAATCACCTGGATACTCTCTGTCCCTCCCAAAGTAGGTACAGCTCCAGAGAGTAGAACAGGGCAGGCACAGGGCCCTTACCCTGCAGTGGCGAGGCCGATACGCTCCATGATGACCCGCCGGGCCTTGTCTGTCCACTCCTCGTCCTCCCCCCAGGGCCCTAGTGGAGACCAAGACAAGGAATCAGCGAGAAGGAAACCCTGAGTTTGGGCAGGCCAGGAGTGGGAAGGAAGACAGAGAAGAGCAGTTGAGCCAGGGAATCAGGAGCTGGTCGGGCAATATGGTGTAGGGTGAAACCCCAGCCAGAGCCGGGTGTCGGTACCGACAACCCCTGCCACTGGGTACCACATACCAGAGGGCCCTGAGCCCCAGCTCCCTAGGAGGTAGGCAGAGACACCCAACAGGCCTCCAGCTCATGGTGCCTACCATGGTCAATGGGGTAGACCTTCAGCCCATCCAGCTCAAAGAGCCGGCCTGTGATAGGCACATAGCTGACAAAGTGGAACGCCTCCATGGTCCGCACTGCACTAAGGCCATTCTGCTTCTCAGGGAGGTGGCGTGGCTCGGGCCTGGGGAAAAACAGAGTCAGGGCCCAAAAAATGATACTCCCCCTACTCCCACCCCACATCAGCTCCCACAGCTCCCACACACCTGGCATGGCTATTATGGGCCTTGGCCAACTCCGGGGCATTGCCAATCGCATATCCTTTGCTCTACGGGGAAGAAAATAAGGCCGTATCAGAATAATTTCTCCTCAGGTAGGACTATGGGTGGAAGGCAAAGCTTCAGAGAGCAGCCTGGAGGCATTCCAGGAATCGGAAGGAACACAGACGAACTTTCTTAAAAGGCTGGTGGGGGCAGAAAAGAGCTCTGGAGCCCCAAAGAGATGGACTGTGCTGGCCTTGCATGGTAATTAGTGGACACTAGGAAGCAACATGGCCTGAGAGGAAAAGTCCTGACAGAGAAGGTTCTGACATGGTCTGACTTAAGGAAACTCTCCTCCCTCCCTAGGCCTGTGTCCTTTCCCCGCAACTGCATCTAAAAACAATGGCCTTACACAATTTATTTAAGAGTCAAATGTAACATAAACAATCATTTGAAAAAGAAACAGCCTAATAGTACCCAATATCATGTGGTAGCATTCCCAGTGGCCCTCAGGGTCAGATCTGCCCAGTTGGCTGTGAGCCAGGATGAAGGCACTGCAGCCTACCTCAGGGCTGAAACCCTTGGTGAAGTCCTTCATGCGACTCAGGGTGGGTCCCAGGTCCACGCTGCTGCAGTTCAGGAGCACGCTCAGCAAGGCATGAGTTGCACAAGAGTTGGGTATCAGCTGTGAAACCAAGAATAGTCACCCATACACAGCACCCCTCACTGCAAGCCCCAAGCCCATATACATCAAGAATGGGGATCCAGAGCAGGTCAGTCATATCTGGACAACTCCCCTTCTCAGCTCCTTTCATCTTTGCCTAATGTTTATTCATTTAACAAGCACCTACCAAATACCCACTGGATATCTGAGGACACAGAGAGTGGACTCAGACACCCTCCTACTCTAAAGCTGTTCCCTTTAATGAATTAAGAGTTCAGTTCGTTCTGCCAGAGGATTTCTGTAGCTACCACCCCTAGAATCTGCCTATCTCCTCCTCCTGTCTTCCTCCATTTCCACTTCCCAAGCAAAAACATGGCAGCATCCCACCCTCCAAACAAAGCACAGAGTCCAGCAGACCTGGTGGGCAAAGAACATGTTATTCACAATATCATCATCAATCACGGACGTATCATCCACCAAGGTAGAGACCTTTCGCCGGGACCGGCGCTCTTCGATCCATTTGAACAGGAAGATAAATCCATATACAGGGCTGGGGGAAGTAAGGGGCAGAGCCAGATCAGCCAAAGGGGAGAAGACAATCAGCATTCCCTTCTTTCTCCCATTAATCCTTTGCACTGCGTCATCACTCAGGTGTCCTTGCTGTGATCCCCCCTCTCCCCTGGCTTCTTCCCAACACTGTGTCTGAAGTGGCCTTGTGCCCTCACACACCAAAGGCCTGCCACAGGCAGAGCAAAGCATAAGCCTCTGACTGTGATGCTCCAGGAGTCCACCCAGTCTCCTTATGAAGTCTATAGTTCTGGGTAAGAGAAGAAAAGCTGGAACTGAGGGCCAAGGATGGGACAGGGTAGGAACACAAAGTAAGACAAGAACAAAAACTCTGATGAGGAACTGAGGCACTCCTTCTCACTTGTGGGCCCCAATGCAGTCAGGAAAGCAAATGAACACCCACACCAGTCTCTTTTGTTCCAGGAAATTAAAGTAGACTTCTTGGTTCAGTCACGGTTGCTACTGTTGCTACTCTCTTACACATCTATTCTGCAGGACCACTGGGAAAAGACTCTAAGTGTGGGCACCCAGGAGGGGCCTTGTCACCCCAACCAATCAATACAGGATGACTTTGTGTCAGGATTAAAGCCAAGGACACATGGGCACACTAAAATTAATACATTACACAACTGCACAAAAGACATTGTGTGACCGGGGTCTTCCCGCTGCAAGGCCAGGAAAGCAGCTGAACCAAAGGATGCTTAGGGGTGGGGAGGGGGCTGCTACAAAAAGGGAAGCGCTAAGGAAAGTTTGGGAGAAAAGAAAGTATCAGTTTGATCAGGAGCGGGCACTCAGAGAGCAAGGCTGCTGCTTTCTGTGAGATTTTACAACGTAGGGTTCCTGGCACTGTCTTCCCTAAGGGGCCCTGTTCTCTGGGACCTTCCCCAGCACTCTGGGTGTAAGGGGCAGCCCTGGTGTACAGCCACTCACCCCTGACATTTGCTCTGAAGGTCGTAGATCTCCTCCACTTGCACCCCCTTGACACCTGCGATGAGGAAAGGAAAGCAGTAGGGAAGGACAGCCCCTGATGAGTGAGGGCGCAGGGGTGGGCCGCCACAGCCCCGGTCCGGCAGGGAGAAAAGGCTCTTACCGAAATCTTCCACGAGCAGGGTGAAGAGGCCTGGGTGGGGCGACAAGAGGAGGGGGTGATGGTCAGGCAGGCGCGTCCCGGGCCCATCCGGCCTCCCCAGCCCCTGGCCCTCCCGGTCCCCTCCTCACCTGGGTCGCTCTCCAGCTCCAGCCAGCCCTTATTCATCTTCCCGCGGGGCGGCCCCTCAGCGCCATGTCCAGGCCCTCCCTCCCCACCGCTGCCCCCACCGGGAGCCCCCACCGCCCCCGGGGCCCCTCAGTCCCACACACAGACAACGGGCCCAGTCGCGTCACCCGCCCGCGCCGGCGGCAGACGTCACCAAGGCGCGACGGCCCTGCTCCGCCTCTGGGCTCGTCTTCCGCCTGTCGGACAGCAGATGCGGGCATGCGCTCGAAGGCGAACGCGCACGCGCGGAGGGACGGGGGCGAAGGGGAGGGACGGGGGCGAAGGGGAGGGGCGGGGCGGGACGGGACGGGGGCGAAGGGGAGGGGCGGGGCGGGACGGGGGCGAAGGGGAGGGTCGGGACGAGGCGGGCGAAGGGAAGAGGGGGTCCGGGCGATGCTGAGCGCTGAGGCTCGAGAGGAGGGGCGGGACGGGCAGTACTAGGCCCGGGTGCTGCGAGGGGAGGGGCGGAGCGGGCGAGGGGAAAAGGCGGGGCCGGGAAGTGCTGGGCGCAGGTGGGGCGAGAGGAGGGGCGGGGCAGGCTAGGGGAAAAGGCGGGGATGGGCGGGGCTGGGCGCGGATGGTGGGAGAGGAGGGACGGGGCGGGGCGGCGAACGGAAGGGGCGGGGGCGGGTGTTGGGCGCTGAGGCGCGAGAGGAGGGGATGGGCGGGGCGCGCGGCCGTTAGCGCGCGGCCGTTAGCGGTCGGTTTCTACTAACGGTAGG
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CAGGCAGCGACTAGCCATACATGCCAGGCACCTGAGCTGGTACCTTCCAACAAGCTGTATGAGGGGCCTATCTGGAAGTGAACCAGCAGACCTGGGCTGCCTAAGGCTCCACTGAGGCCTGCCCCTCCCCCAGCCCACCCAGGAGCAGGCCACAGGCAGCCCAGGCAGGAAATAAGACAACAAGTTGAGAACCCATGATCTAAGCCTGATCTTGCCAGATTCACCATATGGCCTTGCAATTTACAAATCACCTGGATACTCTCTGTCCCTCCCAAAGTAGGTACAGCTCCAGAGAGTAGAACAGGGCAGGCACAGGGCCCTTACCCTGCAGTGGCGAGGCCGATACGCTCCATGATGACCCGCCGGGCCTTGTCTGTCCACTCCTCGTCCTCCCCCCAGGGCCCTAGTGGAGACCAAGACAAGGAATCAGCGAGAAGGAAACCCTGAGTTTGGGCAGGCCAGGAGTGGGAAGGAAGACAGAGAAGAGCAGTTGAGCCAGGGAATCAGGAGCTGGTCGGGCAATATGGTGTAGGGTGAAACCCCAGCCAGAGCCGGGTGTCGGTACCGACAACCCCTGCCACTGGGTACCACATACCAGAGGGCCCTGAGCCCCAGCTCCCTAGGAGGTAGGCAGAGACACCCAACAGGCCTCCAGCTCATGGTGCCTACCATGGTCAATGGGGTAGACCTTCAGCCCATCCAGCTCAAAGAGCCGGCCTGTGATAGGCACATAGCTGACAAAGTGGAACGCCTCCATGGTCCGCACTGCACTAAGGCCATTCTGCTTCTCAGGGAGGTGGCGTGGCTCGGGCCTGGGGAAAAACAGAGTCAGGGCCCAAAAAATGATACTCCCCCTACTCCCACCCCACATCAGCTCCCACAGCTCCCACACACCTGGCATGGCTATTATGGGCCTTGGCCAACTCCGGGGCATTGCCAATCGCATATCCTTTGCTCTACGGGGAAGAAAATAAGGCCGTATCAGAATAATTTCTCCTCAGGTAGGACTATGGGTGGAAGGCAAAGCTTCAGAGAGCAGCCTGGAGGCATTCCAGGAATCGGAAGGAACACAGACGAACTTTCTTAAAAGGCTGGTGGGGGCAGAAAAGAGCTCTGGAGCCCCAAAGAGATGGACTGTGCTGGCCTTGCATGGTAATTAGTGGACACTAGGAAGCAACATGGCCTGAGAGGAAAAGTCCTGACAGAGAAGGTTCTGACATGGTCTGACTTAAGGAAACTCTCCTCCCTCCCTAGGCCTGTGTCCTTTCCCCGCAACTGCATCTAAAAACAATGGCCTTACACAATTTATTTAAGAGTCAAATGTAACATAAACAATCATTTGAAAAAGAAACAGCCTAATAGTACCCAATATCATGTGGTAGCATTCCCAGTGGCCCTCAGGGTCAGATCTGCCCAGTTGGCTGTGAGCCAGGATGAAGGCACTGCAGCCTACCTCAGGGCTGAAACCCTTGGTGAAGTCCTTCATGCGACTCAGGGTGGGTCCCAGGTCCACGCTGCTGCAGTTCAGGAGCACGCTCAGCAAGGCATGAGTTGCACAAGAGTTGGGTATCAGCTGTGAAACCAAGAATAGTCACCCATACACAGCACCCCTCACTGCAAGCCCCAAGCCCATATACATCAAGAATGGGGATCCAGAGCAGGTCAGTCATATCTGGACAACTCCCCTTCTCAGCTCCTTTCATCTTTGCCTAATGTTTATTCATTTAACAAGCACCTACCAAATACCCACTGGATATCTGAGGACACAGAGAGTGGACTCAGACACCCTCCTACTCTAAAGCTGTTCCCTTTAATGAATTAAGAGTTCAGTTCGTTCTGCCAGAGGATTTCTGTAGCTACCACCCCTAGAATCTGCCTATCTCCTCCTCCTGTCTTCCTCCATTTCCACTTCCCAAGCAAAAACATGGCAGCATCCCACCCTCCAAACAAAGCACAGAGTCCAGCAGACCTGGTGGGCAAAGAACATGTTATTCACAATATCATCATCAATCACGGACGTATCATCCACCAAGGTAGAGACCTTTCGCGGGGACCGGCGCTCTTCGATCCATTTGAACAGGAAGATAAATCCATATACAGGGCTGGGGGAAGTAAGGGGCAGAGCCAGATCAGCCAAAGGGGAGAAGACAATCAGCATTCCCTTCTTTCTCCCATTAATCCTTTGCACTGCGTCATCACTCAGGTGTCCTTGCTGTGATCCCCCCTCTCCCCTGGCTTCTTCCCAACACTGTGTCTGAAGTGGCCTTGTGCCCTCACACACCAAAGGCCTGCCACAGGCAGAGCAAAGCATAAGCCTCTGACTGTGATGCTCCAGGAGTCCACCCAGTCTCCTTATGAAGTCTATAGTTCTGGGTAAGAGAAGAAAAGCTGGAACTGAGGGCCAAGGATGGGACAGGGTAGGAACACAAAGTAAGACAAGAACAAAAACTCTGATGAGGAACTGAGGCACTCCTTCTCACTTGTGGGCCCCAATGCAGTCAGGAAAGCAAATGAACACCCACACCAGTCTCTTTTGTTCCAGGAAATTAAAGTAGACTTCTTGGTTCAGTCACGGTTGCTACTGTTGCTACTCTCTTACACATCTATTCTGCAGGACCACTGGGAAAAGACTCTAAGTGTGGGCACCCAGGAGGGGCCTTGTCACCCCAACCAATCAATACAGGATGACTTTGTGTCAGGATTAAAGCCAAGGACACATGGGCACACTAAAATTAATACATTACACAACTGCACAAAAGACATTGTGTGACCGGGGTCTTCCCGCTGCAAGGCCAGGAAAGCAGCTGAACCAAAGGATGCTTAGGGGTGGGGAGGGGGCTGCTACAAAAAGGGAAGCGCTAAGGAAAGTTTGGGAGAAAAGAAAGTATCAGTTTGATCAGGAGCGGGCACTCAGAGAGCAAGGCTGCTGCTTTCTGTGAGATTTTACAACGTAGGGTTCCTGGCACTGTCTTCCCTAAGGGGCCCTGTTCTCTGGGACCTTCCCCAGCACTCTGGGTGTAAGGGGCAGCCCTGGTGTACAGCCACTCACCCCTGACATTTGCTCTGAAGGTCGTAGATCTCCTCCACTTGCACCCCCTTGACACCTGCGATGAGGAAAGGAAAGCAGTAGGGAAGGACAGCCCCTGATGAGTGAGGGCGCAGGGGTGGGCCGCCACAGCCCCGGTCCGGCAGGGAGAAAAGGCTCTTACCGAAATCTTCCACGAGCAGGGTGAAGAGGCCTGGGTGGGGCGACAAGAGGAGGGGGTGATGGTCAGGCAGGCGCGTCCCGGGCCCATCCGGCCTCCCCAGCCCCTGGCCCTCCCGGTCCCCTCCTCACCTGGGTCGCTCTCCAGCTCCAGCCAGCCCTTATTCATCTTCCCGCGGGGCGGCCCCTCAGCGCCATGTCCAGGCCCTCCCTCCCCACCGCTGCCCCCACCGGGAGCCCCCACCGCCCCCGGGGCCCCTCAGTCCCACACACAGACAACGGGCCCAGTCGCGTCACCCGCCCGCGCCGGCGGCAGACGTCACCAAGGCGCGACGGCCCTGCTCCGCCTCTGGGCTCGTCTTCCGCCTGTCGGACAGCAGATGCGGGCATGCGCTCGAAGGCGAACGCGCACGCGCGGAGGGACGGGGGCGAAGGGGAGGGACGGGGGCGAAGGGGAGGGGCGGGGCGGGACGGGACGGGGGCGAAGGGGAGGGGCGGGGCGGGACGGGGGCGAAGGGGAGGGTCGGGACGAGGCGGGCGAAGGGAAGAGGGGGTCCGGGCGATGCTGAGCGCTGAGGCTCGAGAGGAGGGGCGGGACGGGCAGTACTAGGCCCGGGTGCTGCGAGGGGAGGGGCGGAGCGGGCGAGGGGAAAAGGCGGGGCCGGGAAGTGCTGGGCGCAGGTGGGGCGAGAGGAGGGGCGGGGCAGGCTAGGGGAAAAGGCGGGGATGGGCGGGGCTGGGCGCGGATGGTGGGAGAGGAGGGACGGGGCGGGGCGGCGAACGGAAGGGGCGGGGGCGGGTGTTGGGCGCTGAGGCGCGAGAGGAGGGGATGGGCGGGGCGCGCGGCCGTTAGCGCGCGGCCGTTAGCGGTCGGTTTCTACTAACGGTAGG
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Task1_train_7072
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Here’s a variant in BAP1 (BRCA1 associated deubiquitinase 1) located on Chromosome 3. What is the predicted biological effect — harmless or disease-causing?
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Pathogenic; Kury-Isidor syndrome
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GGCCTTACACAATTTATTTAAGAGTCAAATGTAACATAAACAATCATTTGAAAAAGAAACAGCCTAATAGTACCCAATATCATGTGGTAGCATTCCCAGTGGCCCTCAGGGTCAGATCTGCCCAGTTGGCTGTGAGCCAGGATGAAGGCACTGCAGCCTACCTCAGGGCTGAAACCCTTGGTGAAGTCCTTCATGCGACTCAGGGTGGGTCCCAGGTCCACGCTGCTGCAGTTCAGGAGCACGCTCAGCAAGGCATGAGTTGCACAAGAGTTGGGTATCAGCTGTGAAACCAAGAATAGTCACCCATACACAGCACCCCTCACTGCAAGCCCCAAGCCCATATACATCAAGAATGGGGATCCAGAGCAGGTCAGTCATATCTGGACAACTCCCCTTCTCAGCTCCTTTCATCTTTGCCTAATGTTTATTCATTTAACAAGCACCTACCAAATACCCACTGGATATCTGAGGACACAGAGAGTGGACTCAGACACCCTCCTACTCTAAAGCTGTTCCCTTTAATGAATTAAGAGTTCAGTTCGTTCTGCCAGAGGATTTCTGTAGCTACCACCCCTAGAATCTGCCTATCTCCTCCTCCTGTCTTCCTCCATTTCCACTTCCCAAGCAAAAACATGGCAGCATCCCACCCTCCAAACAAAGCACAGAGTCCAGCAGACCTGGTGGGCAAAGAACATGTTATTCACAATATCATCATCAATCACGGACGTATCATCCACCAAGGTAGAGACCTTTCGCCGGGACCGGCGCTCTTCGATCCATTTGAACAGGAAGATAAATCCATATACAGGGCTGGGGGAAGTAAGGGGCAGAGCCAGATCAGCCAAAGGGGAGAAGACAATCAGCATTCCCTTCTTTCTCCCATTAATCCTTTGCACTGCGTCATCACTCAGGTGTCCTTGCTGTGATCCCCCCTCTCCCCTGGCTTCTTCCCAACACTGTGTCTGAAGTGGCCTTGTGCCCTCACACACCAAAGGCCTGCCACAGGCAGAGCAAAGCATAAGCCTCTGACTGTGATGCTCCAGGAGTCCACCCAGTCTCCTTATGAAGTCTATAGTTCTGGGTAAGAGAAGAAAAGCTGGAACTGAGGGCCAAGGATGGGACAGGGTAGGAACACAAAGTAAGACAAGAACAAAAACTCTGATGAGGAACTGAGGCACTCCTTCTCACTTGTGGGCCCCAATGCAGTCAGGAAAGCAAATGAACACCCACACCAGTCTCTTTTGTTCCAGGAAATTAAAGTAGACTTCTTGGTTCAGTCACGGTTGCTACTGTTGCTACTCTCTTACACATCTATTCTGCAGGACCACTGGGAAAAGACTCTAAGTGTGGGCACCCAGGAGGGGCCTTGTCACCCCAACCAATCAATACAGGATGACTTTGTGTCAGGATTAAAGCCAAGGACACATGGGCACACTAAAATTAATACATTACACAACTGCACAAAAGACATTGTGTGACCGGGGTCTTCCCGCTGCAAGGCCAGGAAAGCAGCTGAACCAAAGGATGCTTAGGGGTGGGGAGGGGGCTGCTACAAAAAGGGAAGCGCTAAGGAAAGTTTGGGAGAAAAGAAAGTATCAGTTTGATCAGGAGCGGGCACTCAGAGAGCAAGGCTGCTGCTTTCTGTGAGATTTTACAACGTAGGGTTCCTGGCACTGTCTTCCCTAAGGGGCCCTGTTCTCTGGGACCTTCCCCAGCACTCTGGGTGTAAGGGGCAGCCCTGGTGTACAGCCACTCACCCCTGACATTTGCTCTGAAGGTCGTAGATCTCCTCCACTTGCACCCCCTTGACACCTGCGATGAGGAAAGGAAAGCAGTAGGGAAGGACAGCCCCTGATGAGTGAGGGCGCAGGGGTGGGCCGCCACAGCCCCGGTCCGGCAGGGAGAAAAGGCTCTTACCGAAATCTTCCACGAGCAGGGTGAAGAGGCCTGGGTGGGGCGACAAGAGGAGGGGGTGATGGTCAGGCAGGCGCGTCCCGGGCCCATCCGGCCTCCCCAGCCCCTGGCCCTCCCGGTCCCCTCCTCACCTGGGTCGCTCTCCAGCTCCAGCCAGCCCTTATTCATCTTCCCGCGGGGCGGCCCCTCAGCGCCATGTCCAGGCCCTCCCTCCCCACCGCTGCCCCCACCGGGAGCCCCCACCGCCCCCGGGGCCCCTCAGTCCCACACACAGACAACGGGCCCAGTCGCGTCACCCGCCCGCGCCGGCGGCAGACGTCACCAAGGCGCGACGGCCCTGCTCCGCCTCTGGGCTCGTCTTCCGCCTGTCGGACAGCAGATGCGGGCATGCGCTCGAAGGCGAACGCGCACGCGCGGAGGGACGGGGGCGAAGGGGAGGGACGGGGGCGAAGGGGAGGGGCGGGGCGGGACGGGACGGGGGCGAAGGGGAGGGGCGGGGCGGGACGGGGGCGAAGGGGAGGGTCGGGACGAGGCGGGCGAAGGGAAGAGGGGGTCCGGGCGATGCTGAGCGCTGAGGCTCGAGAGGAGGGGCGGGACGGGCAGTACTAGGCCCGGGTGCTGCGAGGGGAGGGGCGGAGCGGGCGAGGGGAAAAGGCGGGGCCGGGAAGTGCTGGGCGCAGGTGGGGCGAGAGGAGGGGCGGGGCAGGCTAGGGGAAAAGGCGGGGATGGGCGGGGCTGGGCGCGGATGGTGGGAGAGGAGGGACGGGGCGGGGCGGCGAACGGAAGGGGCGGGGGCGGGTGTTGGGCGCTGAGGCGCGAGAGGAGGGGATGGGCGGGGCGCGCGGCCGTTAGCGCGCGGCCGTTAGCGGTCGGTTTCTACTAACGGTAGGCGTCGCCGCGATTCCCGAAGGTCATAGTCCGCGTGACCCACCCCCGTTTGCGCGCTCGCAGTCTTCGCCGGCGCAGTCACCGCGCAGGGCGGCCGCCCGGAGGTAGCTACCACGGCCTGTGTCAACGACTAAAGCTCCAGTACAGCGGCGCCCTCAGACAGCTGGGAGGGTGGCTCTGGCCGGGAGCGGCGGCCGGTGAGCTACCGCGAGGAGGAGCGGCGGAGGCGACCTCGGCCCGGCCCTGCACTGGCCGCCCGGCAGGCGCGACATGAGCCTGGTCTGGCATCCGCGGGATGCTCCTTAAGCCCCTTCTCCGGCTGTTAACCTCCGGGGAACGGTTGTGACCACACCGACACGTATTTTACAGATAAATCATTCTTGCGGCGGCGGGTCGAACACGTTTATTTATTTTTTATTTTCTCAACAAGCTTTTACCCAGCACCTGTCCAGTGAAACAACTTGATAATCGTTTCGAGGGGCGTCCGCCGGGTTAGGAAGCCACTGCCTGGCAGCTTGTGGAAGCCTCATTTGCAAAGCCACCCCTCAGATGTTTTGAAGATCGTGACGTCTTGTAACTAGCAGTGTGTGCACAGAATCCTACTCAAGGAACGTCTTGGCCCAGCGATGCAAAGAACTGAAGTTTCAAGGTTTTATGTCTATTGCTGGATGGTCGGGGTAGCCCCAGTAACTGGGAACTGCTCCGCAGTCCGCTCACGTGGACCCCTGTGGGAATAGCAAGGTCAGGACATGCCCTTCTCTCTCCTCTTCCAGCCTGTCCAGTGTTTTCCTTAAGGAAGAAGCCATCAGATGTCATTGCTTCTGCAACTCCTGGGTTAGAGGAGGAGACAGAACAAGCACAAAGAAGGGGAGGGCAGGGTGGCTTTGGTTTCTTGAACAGTAATTTCCTCAGTCGTCCTTATTCATGCAGAATAGTTTAAAGTCCCTGAAGATATTCCCGATCTCCAGCCGTGATCGGAGGCCATGGATACTGGAGTGTCTCTGGAGTGACCTGATTCACCCAGCCCTCCTTCTAAGAAATGCTGTCCTTCTCCTCTCCCCTGACTAGACAGTCCTTGCTTCACAGCGGTGGATTTTCTTTCGTTCCCGTTCACTTTCAGGGATCTCCCCGTTAACCAGTGAAACTGTACATTTGTTTTACAGTTTGTTTACTAATGAAAACAGGTAACAGCCGGAGTTGGCTGACATTGGAAATAGGAGACAAGGTACCTTCTGCACTTTTGGCTATTGTACTCGGCTCAGATGGAGACAAAGGTTGGGTACAGACCATATCT
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GGCCTTACACAATTTATTTAAGAGTCAAATGTAACATAAACAATCATTTGAAAAAGAAACAGCCTAATAGTACCCAATATCATGTGGTAGCATTCCCAGTGGCCCTCAGGGTCAGATCTGCCCAGTTGGCTGTGAGCCAGGATGAAGGCACTGCAGCCTACCTCAGGGCTGAAACCCTTGGTGAAGTCCTTCATGCGACTCAGGGTGGGTCCCAGGTCCACGCTGCTGCAGTTCAGGAGCACGCTCAGCAAGGCATGAGTTGCACAAGAGTTGGGTATCAGCTGTGAAACCAAGAATAGTCACCCATACACAGCACCCCTCACTGCAAGCCCCAAGCCCATATACATCAAGAATGGGGATCCAGAGCAGGTCAGTCATATCTGGACAACTCCCCTTCTCAGCTCCTTTCATCTTTGCCTAATGTTTATTCATTTAACAAGCACCTACCAAATACCCACTGGATATCTGAGGACACAGAGAGTGGACTCAGACACCCTCCTACTCTAAAGCTGTTCCCTTTAATGAATTAAGAGTTCAGTTCGTTCTGCCAGAGGATTTCTGTAGCTACCACCCCTAGAATCTGCCTATCTCCTCCTCCTGTCTTCCTCCATTTCCACTTCCCAAGCAAAAACATGGCAGCATCCCACCCTCCAAACAAAGCACAGAGTCCAGCAGACCTGGTGGGCAAAGAACATGTTATTCACAATATCATCATCAATCACGGACGTATCATCCACCAAGGTAGAGACCTTTCGCCGGGACCGGCGCTCTTCGATCCATTTGAACAGGAAGATAAATCCATATACAGGGCTGGGGGAAGTAAGGGGCAGAGCCAGATCAGCCAAAGGGGAGAAGACAATCAGCATTCCCTTCTTTCTCCCATTAATCCTTTGCACTGCGTCATCACTCAGGTGTCCTTGCTGTGATCCCCCCTCTCCCCTGGCTTCTTCCCAACACTGTGTCTGAAGTGGCCTTGTGCCCTCACACACCAAAGGCCTGCCACAGGCAGAGCAAAGCATAAGCCTCTGACTGTGATGCTCCAGGAGTCCACCCAGTCTCCTTATGAAGTCTATAGTTCTGGGTAAGAGAAGAAAAGCTGGAACTGAGGGCCAAGGATGGGACAGGGTAGGAACACAAAGTAAGACAAGAACAAAAACTCTGATGAGGAACTGAGGCACTCCTTCTCACTTGTGGGCCCCAATGCAGTCAGGAAAGCAAATGAACACCCACACCAGTCTCTTTTGTTCCAGGAAATTAAAGTAGACTTCTTGGTTCAGTCACGGTTGCTACTGTTGCTACTCTCTTACACATCTATTCTGCAGGACCACTGGGAAAAGACTCTAAGTGTGGGCACCCAGGAGGGGCCTTGTCACCCCAACCAATCAATACAGGATGACTTTGTGTCAGGATTAAAGCCAAGGACACATGGGCACACTAAAATTAATACATTACACAACTGCACAAAAGACATTGTGTGACCGGGGTCTTCCCGCTGCAAGGCCAGGAAAGCAGCTGAACCAAAGGATGCTTAGGGGTGGGGAGGGGGCTGCTACAAAAAGGGAAGCGCTAAGGAAAGTTTGGGAGAAAAGAAAGTATCAGTTTGATCAGGAGCGGGCACTCAGAGAGCAAGGCTGCTGCTTTCTGTGAGATTTTACAACGTAGGGTTCCTGGCACTGTCTTCCCTAAGGGGCCCTGTTCTCTGGGACCTTCCCCAGCACTCTGGGTGTAAGGGGCAGCCCTGGTGTACAGCCACTCACCCCTGACATTTGCTCTGAAGGTCGTAGATCTCCTCCACTTGCACCCCCTTGACACCTGCGATGAGGAAAGGAAAGCAGTAGGGAAGGACAGCCCCTGATGAGTGAGGGCGCAGGGGTGGGCCGCCACAGCCCCGGTCCGGCAGGGAGAAAAGGCTCTTACCGAAATCTTCCACGAGCAGGGTGAAGAGGCCTGGGTGGGGCGACAAGAGGAGGGGGTGATGGTCAGGCAGGCGCGTCCCGGGCCCATCCGGCCTCCCCAGCCCCTGGCCCTCCCGGTCCCCTCCTCACCTGTGTCGCTCTCCAGCTCCAGCCAGCCCTTATTCATCTTCCCGCGGGGCGGCCCCTCAGCGCCATGTCCAGGCCCTCCCTCCCCACCGCTGCCCCCACCGGGAGCCCCCACCGCCCCCGGGGCCCCTCAGTCCCACACACAGACAACGGGCCCAGTCGCGTCACCCGCCCGCGCCGGCGGCAGACGTCACCAAGGCGCGACGGCCCTGCTCCGCCTCTGGGCTCGTCTTCCGCCTGTCGGACAGCAGATGCGGGCATGCGCTCGAAGGCGAACGCGCACGCGCGGAGGGACGGGGGCGAAGGGGAGGGACGGGGGCGAAGGGGAGGGGCGGGGCGGGACGGGACGGGGGCGAAGGGGAGGGGCGGGGCGGGACGGGGGCGAAGGGGAGGGTCGGGACGAGGCGGGCGAAGGGAAGAGGGGGTCCGGGCGATGCTGAGCGCTGAGGCTCGAGAGGAGGGGCGGGACGGGCAGTACTAGGCCCGGGTGCTGCGAGGGGAGGGGCGGAGCGGGCGAGGGGAAAAGGCGGGGCCGGGAAGTGCTGGGCGCAGGTGGGGCGAGAGGAGGGGCGGGGCAGGCTAGGGGAAAAGGCGGGGATGGGCGGGGCTGGGCGCGGATGGTGGGAGAGGAGGGACGGGGCGGGGCGGCGAACGGAAGGGGCGGGGGCGGGTGTTGGGCGCTGAGGCGCGAGAGGAGGGGATGGGCGGGGCGCGCGGCCGTTAGCGCGCGGCCGTTAGCGGTCGGTTTCTACTAACGGTAGGCGTCGCCGCGATTCCCGAAGGTCATAGTCCGCGTGACCCACCCCCGTTTGCGCGCTCGCAGTCTTCGCCGGCGCAGTCACCGCGCAGGGCGGCCGCCCGGAGGTAGCTACCACGGCCTGTGTCAACGACTAAAGCTCCAGTACAGCGGCGCCCTCAGACAGCTGGGAGGGTGGCTCTGGCCGGGAGCGGCGGCCGGTGAGCTACCGCGAGGAGGAGCGGCGGAGGCGACCTCGGCCCGGCCCTGCACTGGCCGCCCGGCAGGCGCGACATGAGCCTGGTCTGGCATCCGCGGGATGCTCCTTAAGCCCCTTCTCCGGCTGTTAACCTCCGGGGAACGGTTGTGACCACACCGACACGTATTTTACAGATAAATCATTCTTGCGGCGGCGGGTCGAACACGTTTATTTATTTTTTATTTTCTCAACAAGCTTTTACCCAGCACCTGTCCAGTGAAACAACTTGATAATCGTTTCGAGGGGCGTCCGCCGGGTTAGGAAGCCACTGCCTGGCAGCTTGTGGAAGCCTCATTTGCAAAGCCACCCCTCAGATGTTTTGAAGATCGTGACGTCTTGTAACTAGCAGTGTGTGCACAGAATCCTACTCAAGGAACGTCTTGGCCCAGCGATGCAAAGAACTGAAGTTTCAAGGTTTTATGTCTATTGCTGGATGGTCGGGGTAGCCCCAGTAACTGGGAACTGCTCCGCAGTCCGCTCACGTGGACCCCTGTGGGAATAGCAAGGTCAGGACATGCCCTTCTCTCTCCTCTTCCAGCCTGTCCAGTGTTTTCCTTAAGGAAGAAGCCATCAGATGTCATTGCTTCTGCAACTCCTGGGTTAGAGGAGGAGACAGAACAAGCACAAAGAAGGGGAGGGCAGGGTGGCTTTGGTTTCTTGAACAGTAATTTCCTCAGTCGTCCTTATTCATGCAGAATAGTTTAAAGTCCCTGAAGATATTCCCGATCTCCAGCCGTGATCGGAGGCCATGGATACTGGAGTGTCTCTGGAGTGACCTGATTCACCCAGCCCTCCTTCTAAGAAATGCTGTCCTTCTCCTCTCCCCTGACTAGACAGTCCTTGCTTCACAGCGGTGGATTTTCTTTCGTTCCCGTTCACTTTCAGGGATCTCCCCGTTAACCAGTGAAACTGTACATTTGTTTTACAGTTTGTTTACTAATGAAAACAGGTAACAGCCGGAGTTGGCTGACATTGGAAATAGGAGACAAGGTACCTTCTGCACTTTTGGCTATTGTACTCGGCTCAGATGGAGACAAAGGTTGGGTACAGACCATATCT
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Task1_train_7073
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This sequence change occurs on Chromosome 3, altering BAP1 (BRCA1 associated deubiquitinase 1). What is the medical significance of this variant — is it benign or linked to a disease?
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Pathogenic; Neurodevelopmental disorder
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GGCCTTACACAATTTATTTAAGAGTCAAATGTAACATAAACAATCATTTGAAAAAGAAACAGCCTAATAGTACCCAATATCATGTGGTAGCATTCCCAGTGGCCCTCAGGGTCAGATCTGCCCAGTTGGCTGTGAGCCAGGATGAAGGCACTGCAGCCTACCTCAGGGCTGAAACCCTTGGTGAAGTCCTTCATGCGACTCAGGGTGGGTCCCAGGTCCACGCTGCTGCAGTTCAGGAGCACGCTCAGCAAGGCATGAGTTGCACAAGAGTTGGGTATCAGCTGTGAAACCAAGAATAGTCACCCATACACAGCACCCCTCACTGCAAGCCCCAAGCCCATATACATCAAGAATGGGGATCCAGAGCAGGTCAGTCATATCTGGACAACTCCCCTTCTCAGCTCCTTTCATCTTTGCCTAATGTTTATTCATTTAACAAGCACCTACCAAATACCCACTGGATATCTGAGGACACAGAGAGTGGACTCAGACACCCTCCTACTCTAAAGCTGTTCCCTTTAATGAATTAAGAGTTCAGTTCGTTCTGCCAGAGGATTTCTGTAGCTACCACCCCTAGAATCTGCCTATCTCCTCCTCCTGTCTTCCTCCATTTCCACTTCCCAAGCAAAAACATGGCAGCATCCCACCCTCCAAACAAAGCACAGAGTCCAGCAGACCTGGTGGGCAAAGAACATGTTATTCACAATATCATCATCAATCACGGACGTATCATCCACCAAGGTAGAGACCTTTCGCCGGGACCGGCGCTCTTCGATCCATTTGAACAGGAAGATAAATCCATATACAGGGCTGGGGGAAGTAAGGGGCAGAGCCAGATCAGCCAAAGGGGAGAAGACAATCAGCATTCCCTTCTTTCTCCCATTAATCCTTTGCACTGCGTCATCACTCAGGTGTCCTTGCTGTGATCCCCCCTCTCCCCTGGCTTCTTCCCAACACTGTGTCTGAAGTGGCCTTGTGCCCTCACACACCAAAGGCCTGCCACAGGCAGAGCAAAGCATAAGCCTCTGACTGTGATGCTCCAGGAGTCCACCCAGTCTCCTTATGAAGTCTATAGTTCTGGGTAAGAGAAGAAAAGCTGGAACTGAGGGCCAAGGATGGGACAGGGTAGGAACACAAAGTAAGACAAGAACAAAAACTCTGATGAGGAACTGAGGCACTCCTTCTCACTTGTGGGCCCCAATGCAGTCAGGAAAGCAAATGAACACCCACACCAGTCTCTTTTGTTCCAGGAAATTAAAGTAGACTTCTTGGTTCAGTCACGGTTGCTACTGTTGCTACTCTCTTACACATCTATTCTGCAGGACCACTGGGAAAAGACTCTAAGTGTGGGCACCCAGGAGGGGCCTTGTCACCCCAACCAATCAATACAGGATGACTTTGTGTCAGGATTAAAGCCAAGGACACATGGGCACACTAAAATTAATACATTACACAACTGCACAAAAGACATTGTGTGACCGGGGTCTTCCCGCTGCAAGGCCAGGAAAGCAGCTGAACCAAAGGATGCTTAGGGGTGGGGAGGGGGCTGCTACAAAAAGGGAAGCGCTAAGGAAAGTTTGGGAGAAAAGAAAGTATCAGTTTGATCAGGAGCGGGCACTCAGAGAGCAAGGCTGCTGCTTTCTGTGAGATTTTACAACGTAGGGTTCCTGGCACTGTCTTCCCTAAGGGGCCCTGTTCTCTGGGACCTTCCCCAGCACTCTGGGTGTAAGGGGCAGCCCTGGTGTACAGCCACTCACCCCTGACATTTGCTCTGAAGGTCGTAGATCTCCTCCACTTGCACCCCCTTGACACCTGCGATGAGGAAAGGAAAGCAGTAGGGAAGGACAGCCCCTGATGAGTGAGGGCGCAGGGGTGGGCCGCCACAGCCCCGGTCCGGCAGGGAGAAAAGGCTCTTACCGAAATCTTCCACGAGCAGGGTGAAGAGGCCTGGGTGGGGCGACAAGAGGAGGGGGTGATGGTCAGGCAGGCGCGTCCCGGGCCCATCCGGCCTCCCCAGCCCCTGGCCCTCCCGGTCCCCTCCTCACCTGGGTCGCTCTCCAGCTCCAGCCAGCCCTTATTCATCTTCCCGCGGGGCGGCCCCTCAGCGCCATGTCCAGGCCCTCCCTCCCCACCGCTGCCCCCACCGGGAGCCCCCACCGCCCCCGGGGCCCCTCAGTCCCACACACAGACAACGGGCCCAGTCGCGTCACCCGCCCGCGCCGGCGGCAGACGTCACCAAGGCGCGACGGCCCTGCTCCGCCTCTGGGCTCGTCTTCCGCCTGTCGGACAGCAGATGCGGGCATGCGCTCGAAGGCGAACGCGCACGCGCGGAGGGACGGGGGCGAAGGGGAGGGACGGGGGCGAAGGGGAGGGGCGGGGCGGGACGGGACGGGGGCGAAGGGGAGGGGCGGGGCGGGACGGGGGCGAAGGGGAGGGTCGGGACGAGGCGGGCGAAGGGAAGAGGGGGTCCGGGCGATGCTGAGCGCTGAGGCTCGAGAGGAGGGGCGGGACGGGCAGTACTAGGCCCGGGTGCTGCGAGGGGAGGGGCGGAGCGGGCGAGGGGAAAAGGCGGGGCCGGGAAGTGCTGGGCGCAGGTGGGGCGAGAGGAGGGGCGGGGCAGGCTAGGGGAAAAGGCGGGGATGGGCGGGGCTGGGCGCGGATGGTGGGAGAGGAGGGACGGGGCGGGGCGGCGAACGGAAGGGGCGGGGGCGGGTGTTGGGCGCTGAGGCGCGAGAGGAGGGGATGGGCGGGGCGCGCGGCCGTTAGCGCGCGGCCGTTAGCGGTCGGTTTCTACTAACGGTAGGCGTCGCCGCGATTCCCGAAGGTCATAGTCCGCGTGACCCACCCCCGTTTGCGCGCTCGCAGTCTTCGCCGGCGCAGTCACCGCGCAGGGCGGCCGCCCGGAGGTAGCTACCACGGCCTGTGTCAACGACTAAAGCTCCAGTACAGCGGCGCCCTCAGACAGCTGGGAGGGTGGCTCTGGCCGGGAGCGGCGGCCGGTGAGCTACCGCGAGGAGGAGCGGCGGAGGCGACCTCGGCCCGGCCCTGCACTGGCCGCCCGGCAGGCGCGACATGAGCCTGGTCTGGCATCCGCGGGATGCTCCTTAAGCCCCTTCTCCGGCTGTTAACCTCCGGGGAACGGTTGTGACCACACCGACACGTATTTTACAGATAAATCATTCTTGCGGCGGCGGGTCGAACACGTTTATTTATTTTTTATTTTCTCAACAAGCTTTTACCCAGCACCTGTCCAGTGAAACAACTTGATAATCGTTTCGAGGGGCGTCCGCCGGGTTAGGAAGCCACTGCCTGGCAGCTTGTGGAAGCCTCATTTGCAAAGCCACCCCTCAGATGTTTTGAAGATCGTGACGTCTTGTAACTAGCAGTGTGTGCACAGAATCCTACTCAAGGAACGTCTTGGCCCAGCGATGCAAAGAACTGAAGTTTCAAGGTTTTATGTCTATTGCTGGATGGTCGGGGTAGCCCCAGTAACTGGGAACTGCTCCGCAGTCCGCTCACGTGGACCCCTGTGGGAATAGCAAGGTCAGGACATGCCCTTCTCTCTCCTCTTCCAGCCTGTCCAGTGTTTTCCTTAAGGAAGAAGCCATCAGATGTCATTGCTTCTGCAACTCCTGGGTTAGAGGAGGAGACAGAACAAGCACAAAGAAGGGGAGGGCAGGGTGGCTTTGGTTTCTTGAACAGTAATTTCCTCAGTCGTCCTTATTCATGCAGAATAGTTTAAAGTCCCTGAAGATATTCCCGATCTCCAGCCGTGATCGGAGGCCATGGATACTGGAGTGTCTCTGGAGTGACCTGATTCACCCAGCCCTCCTTCTAAGAAATGCTGTCCTTCTCCTCTCCCCTGACTAGACAGTCCTTGCTTCACAGCGGTGGATTTTCTTTCGTTCCCGTTCACTTTCAGGGATCTCCCCGTTAACCAGTGAAACTGTACATTTGTTTTACAGTTTGTTTACTAATGAAAACAGGTAACAGCCGGAGTTGGCTGACATTGGAAATAGGAGACAAGGTACCTTCTGCACTTTTGGCTATTGTACTCGGCTCAGATGGAGACAAAGGTTGGGTACAGACCATATCT
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GGCCTTACACAATTTATTTAAGAGTCAAATGTAACATAAACAATCATTTGAAAAAGAAACAGCCTAATAGTACCCAATATCATGTGGTAGCATTCCCAGTGGCCCTCAGGGTCAGATCTGCCCAGTTGGCTGTGAGCCAGGATGAAGGCACTGCAGCCTACCTCAGGGCTGAAACCCTTGGTGAAGTCCTTCATGCGACTCAGGGTGGGTCCCAGGTCCACGCTGCTGCAGTTCAGGAGCACGCTCAGCAAGGCATGAGTTGCACAAGAGTTGGGTATCAGCTGTGAAACCAAGAATAGTCACCCATACACAGCACCCCTCACTGCAAGCCCCAAGCCCATATACATCAAGAATGGGGATCCAGAGCAGGTCAGTCATATCTGGACAACTCCCCTTCTCAGCTCCTTTCATCTTTGCCTAATGTTTATTCATTTAACAAGCACCTACCAAATACCCACTGGATATCTGAGGACACAGAGAGTGGACTCAGACACCCTCCTACTCTAAAGCTGTTCCCTTTAATGAATTAAGAGTTCAGTTCGTTCTGCCAGAGGATTTCTGTAGCTACCACCCCTAGAATCTGCCTATCTCCTCCTCCTGTCTTCCTCCATTTCCACTTCCCAAGCAAAAACATGGCAGCATCCCACCCTCCAAACAAAGCACAGAGTCCAGCAGACCTGGTGGGCAAAGAACATGTTATTCACAATATCATCATCAATCACGGACGTATCATCCACCAAGGTAGAGACCTTTCGCCGGGACCGGCGCTCTTCGATCCATTTGAACAGGAAGATAAATCCATATACAGGGCTGGGGGAAGTAAGGGGCAGAGCCAGATCAGCCAAAGGGGAGAAGACAATCAGCATTCCCTTCTTTCTCCCATTAATCCTTTGCACTGCGTCATCACTCAGGTGTCCTTGCTGTGATCCCCCCTCTCCCCTGGCTTCTTCCCAACACTGTGTCTGAAGTGGCCTTGTGCCCTCACACACCAAAGGCCTGCCACAGGCAGAGCAAAGCATAAGCCTCTGACTGTGATGCTCCAGGAGTCCACCCAGTCTCCTTATGAAGTCTATAGTTCTGGGTAAGAGAAGAAAAGCTGGAACTGAGGGCCAAGGATGGGACAGGGTAGGAACACAAAGTAAGACAAGAACAAAAACTCTGATGAGGAACTGAGGCACTCCTTCTCACTTGTGGGCCCCAATGCAGTCAGGAAAGCAAATGAACACCCACACCAGTCTCTTTTGTTCCAGGAAATTAAAGTAGACTTCTTGGTTCAGTCACGGTTGCTACTGTTGCTACTCTCTTACACATCTATTCTGCAGGACCACTGGGAAAAGACTCTAAGTGTGGGCACCCAGGAGGGGCCTTGTCACCCCAACCAATCAATACAGGATGACTTTGTGTCAGGATTAAAGCCAAGGACACATGGGCACACTAAAATTAATACATTACACAACTGCACAAAAGACATTGTGTGACCGGGGTCTTCCCGCTGCAAGGCCAGGAAAGCAGCTGAACCAAAGGATGCTTAGGGGTGGGGAGGGGGCTGCTACAAAAAGGGAAGCGCTAAGGAAAGTTTGGGAGAAAAGAAAGTATCAGTTTGATCAGGAGCGGGCACTCAGAGAGCAAGGCTGCTGCTTTCTGTGAGATTTTACAACGTAGGGTTCCTGGCACTGTCTTCCCTAAGGGGCCCTGTTCTCTGGGACCTTCCCCAGCACTCTGGGTGTAAGGGGCAGCCCTGGTGTACAGCCACTCACCCCTGACATTTGCTCTGAAGGTCGTAGATCTCCTCCACTTGCACCCCCTTGACACCTGCGATGAGGAAAGGAAAGCAGTAGGGAAGGACAGCCCCTGATGAGTGAGGGCGCAGGGGTGGGCCGCCACAGCCCCGGTCCGGCAGGGAGAAAAGGCTCTTACCGAAATCTTCCACGAGCAGGGTGAAGAGGCCTGGGTGGGGCGACAAGAGGAGGGGGTGATGGTCAGGCAGGCGCGTCCCGGGCCCATCCGGCCTCCCCAGCCCCTGGCCCTCCCGGTCCCCTCCTCACCTGTGTCGCTCTCCAGCTCCAGCCAGCCCTTATTCATCTTCCCGCGGGGCGGCCCCTCAGCGCCATGTCCAGGCCCTCCCTCCCCACCGCTGCCCCCACCGGGAGCCCCCACCGCCCCCGGGGCCCCTCAGTCCCACACACAGACAACGGGCCCAGTCGCGTCACCCGCCCGCGCCGGCGGCAGACGTCACCAAGGCGCGACGGCCCTGCTCCGCCTCTGGGCTCGTCTTCCGCCTGTCGGACAGCAGATGCGGGCATGCGCTCGAAGGCGAACGCGCACGCGCGGAGGGACGGGGGCGAAGGGGAGGGACGGGGGCGAAGGGGAGGGGCGGGGCGGGACGGGACGGGGGCGAAGGGGAGGGGCGGGGCGGGACGGGGGCGAAGGGGAGGGTCGGGACGAGGCGGGCGAAGGGAAGAGGGGGTCCGGGCGATGCTGAGCGCTGAGGCTCGAGAGGAGGGGCGGGACGGGCAGTACTAGGCCCGGGTGCTGCGAGGGGAGGGGCGGAGCGGGCGAGGGGAAAAGGCGGGGCCGGGAAGTGCTGGGCGCAGGTGGGGCGAGAGGAGGGGCGGGGCAGGCTAGGGGAAAAGGCGGGGATGGGCGGGGCTGGGCGCGGATGGTGGGAGAGGAGGGACGGGGCGGGGCGGCGAACGGAAGGGGCGGGGGCGGGTGTTGGGCGCTGAGGCGCGAGAGGAGGGGATGGGCGGGGCGCGCGGCCGTTAGCGCGCGGCCGTTAGCGGTCGGTTTCTACTAACGGTAGGCGTCGCCGCGATTCCCGAAGGTCATAGTCCGCGTGACCCACCCCCGTTTGCGCGCTCGCAGTCTTCGCCGGCGCAGTCACCGCGCAGGGCGGCCGCCCGGAGGTAGCTACCACGGCCTGTGTCAACGACTAAAGCTCCAGTACAGCGGCGCCCTCAGACAGCTGGGAGGGTGGCTCTGGCCGGGAGCGGCGGCCGGTGAGCTACCGCGAGGAGGAGCGGCGGAGGCGACCTCGGCCCGGCCCTGCACTGGCCGCCCGGCAGGCGCGACATGAGCCTGGTCTGGCATCCGCGGGATGCTCCTTAAGCCCCTTCTCCGGCTGTTAACCTCCGGGGAACGGTTGTGACCACACCGACACGTATTTTACAGATAAATCATTCTTGCGGCGGCGGGTCGAACACGTTTATTTATTTTTTATTTTCTCAACAAGCTTTTACCCAGCACCTGTCCAGTGAAACAACTTGATAATCGTTTCGAGGGGCGTCCGCCGGGTTAGGAAGCCACTGCCTGGCAGCTTGTGGAAGCCTCATTTGCAAAGCCACCCCTCAGATGTTTTGAAGATCGTGACGTCTTGTAACTAGCAGTGTGTGCACAGAATCCTACTCAAGGAACGTCTTGGCCCAGCGATGCAAAGAACTGAAGTTTCAAGGTTTTATGTCTATTGCTGGATGGTCGGGGTAGCCCCAGTAACTGGGAACTGCTCCGCAGTCCGCTCACGTGGACCCCTGTGGGAATAGCAAGGTCAGGACATGCCCTTCTCTCTCCTCTTCCAGCCTGTCCAGTGTTTTCCTTAAGGAAGAAGCCATCAGATGTCATTGCTTCTGCAACTCCTGGGTTAGAGGAGGAGACAGAACAAGCACAAAGAAGGGGAGGGCAGGGTGGCTTTGGTTTCTTGAACAGTAATTTCCTCAGTCGTCCTTATTCATGCAGAATAGTTTAAAGTCCCTGAAGATATTCCCGATCTCCAGCCGTGATCGGAGGCCATGGATACTGGAGTGTCTCTGGAGTGACCTGATTCACCCAGCCCTCCTTCTAAGAAATGCTGTCCTTCTCCTCTCCCCTGACTAGACAGTCCTTGCTTCACAGCGGTGGATTTTCTTTCGTTCCCGTTCACTTTCAGGGATCTCCCCGTTAACCAGTGAAACTGTACATTTGTTTTACAGTTTGTTTACTAATGAAAACAGGTAACAGCCGGAGTTGGCTGACATTGGAAATAGGAGACAAGGTACCTTCTGCACTTTTGGCTATTGTACTCGGCTCAGATGGAGACAAAGGTTGGGTACAGACCATATCT
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Task1_train_7074
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A variant was discovered in gene BAP1 (BRCA1 associated deubiquitinase 1), Chromosome 3. Please indicate if this mutation results in a known disease or if it's non-harmful.
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Pathogenic; Hereditary cancer-predisposing syndrome
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AACATAAACAATCATTTGAAAAAGAAACAGCCTAATAGTACCCAATATCATGTGGTAGCATTCCCAGTGGCCCTCAGGGTCAGATCTGCCCAGTTGGCTGTGAGCCAGGATGAAGGCACTGCAGCCTACCTCAGGGCTGAAACCCTTGGTGAAGTCCTTCATGCGACTCAGGGTGGGTCCCAGGTCCACGCTGCTGCAGTTCAGGAGCACGCTCAGCAAGGCATGAGTTGCACAAGAGTTGGGTATCAGCTGTGAAACCAAGAATAGTCACCCATACACAGCACCCCTCACTGCAAGCCCCAAGCCCATATACATCAAGAATGGGGATCCAGAGCAGGTCAGTCATATCTGGACAACTCCCCTTCTCAGCTCCTTTCATCTTTGCCTAATGTTTATTCATTTAACAAGCACCTACCAAATACCCACTGGATATCTGAGGACACAGAGAGTGGACTCAGACACCCTCCTACTCTAAAGCTGTTCCCTTTAATGAATTAAGAGTTCAGTTCGTTCTGCCAGAGGATTTCTGTAGCTACCACCCCTAGAATCTGCCTATCTCCTCCTCCTGTCTTCCTCCATTTCCACTTCCCAAGCAAAAACATGGCAGCATCCCACCCTCCAAACAAAGCACAGAGTCCAGCAGACCTGGTGGGCAAAGAACATGTTATTCACAATATCATCATCAATCACGGACGTATCATCCACCAAGGTAGAGACCTTTCGCCGGGACCGGCGCTCTTCGATCCATTTGAACAGGAAGATAAATCCATATACAGGGCTGGGGGAAGTAAGGGGCAGAGCCAGATCAGCCAAAGGGGAGAAGACAATCAGCATTCCCTTCTTTCTCCCATTAATCCTTTGCACTGCGTCATCACTCAGGTGTCCTTGCTGTGATCCCCCCTCTCCCCTGGCTTCTTCCCAACACTGTGTCTGAAGTGGCCTTGTGCCCTCACACACCAAAGGCCTGCCACAGGCAGAGCAAAGCATAAGCCTCTGACTGTGATGCTCCAGGAGTCCACCCAGTCTCCTTATGAAGTCTATAGTTCTGGGTAAGAGAAGAAAAGCTGGAACTGAGGGCCAAGGATGGGACAGGGTAGGAACACAAAGTAAGACAAGAACAAAAACTCTGATGAGGAACTGAGGCACTCCTTCTCACTTGTGGGCCCCAATGCAGTCAGGAAAGCAAATGAACACCCACACCAGTCTCTTTTGTTCCAGGAAATTAAAGTAGACTTCTTGGTTCAGTCACGGTTGCTACTGTTGCTACTCTCTTACACATCTATTCTGCAGGACCACTGGGAAAAGACTCTAAGTGTGGGCACCCAGGAGGGGCCTTGTCACCCCAACCAATCAATACAGGATGACTTTGTGTCAGGATTAAAGCCAAGGACACATGGGCACACTAAAATTAATACATTACACAACTGCACAAAAGACATTGTGTGACCGGGGTCTTCCCGCTGCAAGGCCAGGAAAGCAGCTGAACCAAAGGATGCTTAGGGGTGGGGAGGGGGCTGCTACAAAAAGGGAAGCGCTAAGGAAAGTTTGGGAGAAAAGAAAGTATCAGTTTGATCAGGAGCGGGCACTCAGAGAGCAAGGCTGCTGCTTTCTGTGAGATTTTACAACGTAGGGTTCCTGGCACTGTCTTCCCTAAGGGGCCCTGTTCTCTGGGACCTTCCCCAGCACTCTGGGTGTAAGGGGCAGCCCTGGTGTACAGCCACTCACCCCTGACATTTGCTCTGAAGGTCGTAGATCTCCTCCACTTGCACCCCCTTGACACCTGCGATGAGGAAAGGAAAGCAGTAGGGAAGGACAGCCCCTGATGAGTGAGGGCGCAGGGGTGGGCCGCCACAGCCCCGGTCCGGCAGGGAGAAAAGGCTCTTACCGAAATCTTCCACGAGCAGGGTGAAGAGGCCTGGGTGGGGCGACAAGAGGAGGGGGTGATGGTCAGGCAGGCGCGTCCCGGGCCCATCCGGCCTCCCCAGCCCCTGGCCCTCCCGGTCCCCTCCTCACCTGGGTCGCTCTCCAGCTCCAGCCAGCCCTTATTCATCTTCCCGCGGGGCGGCCCCTCAGCGCCATGTCCAGGCCCTCCCTCCCCACCGCTGCCCCCACCGGGAGCCCCCACCGCCCCCGGGGCCCCTCAGTCCCACACACAGACAACGGGCCCAGTCGCGTCACCCGCCCGCGCCGGCGGCAGACGTCACCAAGGCGCGACGGCCCTGCTCCGCCTCTGGGCTCGTCTTCCGCCTGTCGGACAGCAGATGCGGGCATGCGCTCGAAGGCGAACGCGCACGCGCGGAGGGACGGGGGCGAAGGGGAGGGACGGGGGCGAAGGGGAGGGGCGGGGCGGGACGGGACGGGGGCGAAGGGGAGGGGCGGGGCGGGACGGGGGCGAAGGGGAGGGTCGGGACGAGGCGGGCGAAGGGAAGAGGGGGTCCGGGCGATGCTGAGCGCTGAGGCTCGAGAGGAGGGGCGGGACGGGCAGTACTAGGCCCGGGTGCTGCGAGGGGAGGGGCGGAGCGGGCGAGGGGAAAAGGCGGGGCCGGGAAGTGCTGGGCGCAGGTGGGGCGAGAGGAGGGGCGGGGCAGGCTAGGGGAAAAGGCGGGGATGGGCGGGGCTGGGCGCGGATGGTGGGAGAGGAGGGACGGGGCGGGGCGGCGAACGGAAGGGGCGGGGGCGGGTGTTGGGCGCTGAGGCGCGAGAGGAGGGGATGGGCGGGGCGCGCGGCCGTTAGCGCGCGGCCGTTAGCGGTCGGTTTCTACTAACGGTAGGCGTCGCCGCGATTCCCGAAGGTCATAGTCCGCGTGACCCACCCCCGTTTGCGCGCTCGCAGTCTTCGCCGGCGCAGTCACCGCGCAGGGCGGCCGCCCGGAGGTAGCTACCACGGCCTGTGTCAACGACTAAAGCTCCAGTACAGCGGCGCCCTCAGACAGCTGGGAGGGTGGCTCTGGCCGGGAGCGGCGGCCGGTGAGCTACCGCGAGGAGGAGCGGCGGAGGCGACCTCGGCCCGGCCCTGCACTGGCCGCCCGGCAGGCGCGACATGAGCCTGGTCTGGCATCCGCGGGATGCTCCTTAAGCCCCTTCTCCGGCTGTTAACCTCCGGGGAACGGTTGTGACCACACCGACACGTATTTTACAGATAAATCATTCTTGCGGCGGCGGGTCGAACACGTTTATTTATTTTTTATTTTCTCAACAAGCTTTTACCCAGCACCTGTCCAGTGAAACAACTTGATAATCGTTTCGAGGGGCGTCCGCCGGGTTAGGAAGCCACTGCCTGGCAGCTTGTGGAAGCCTCATTTGCAAAGCCACCCCTCAGATGTTTTGAAGATCGTGACGTCTTGTAACTAGCAGTGTGTGCACAGAATCCTACTCAAGGAACGTCTTGGCCCAGCGATGCAAAGAACTGAAGTTTCAAGGTTTTATGTCTATTGCTGGATGGTCGGGGTAGCCCCAGTAACTGGGAACTGCTCCGCAGTCCGCTCACGTGGACCCCTGTGGGAATAGCAAGGTCAGGACATGCCCTTCTCTCTCCTCTTCCAGCCTGTCCAGTGTTTTCCTTAAGGAAGAAGCCATCAGATGTCATTGCTTCTGCAACTCCTGGGTTAGAGGAGGAGACAGAACAAGCACAAAGAAGGGGAGGGCAGGGTGGCTTTGGTTTCTTGAACAGTAATTTCCTCAGTCGTCCTTATTCATGCAGAATAGTTTAAAGTCCCTGAAGATATTCCCGATCTCCAGCCGTGATCGGAGGCCATGGATACTGGAGTGTCTCTGGAGTGACCTGATTCACCCAGCCCTCCTTCTAAGAAATGCTGTCCTTCTCCTCTCCCCTGACTAGACAGTCCTTGCTTCACAGCGGTGGATTTTCTTTCGTTCCCGTTCACTTTCAGGGATCTCCCCGTTAACCAGTGAAACTGTACATTTGTTTTACAGTTTGTTTACTAATGAAAACAGGTAACAGCCGGAGTTGGCTGACATTGGAAATAGGAGACAAGGTACCTTCTGCACTTTTGGCTATTGTACTCGGCTCAGATGGAGACAAAGGTTGGGTACAGACCATATCTCAGTGGCCACCTGAGCCTAGGTGAAAAGAATT
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AACATAAACAATCATTTGAAAAAGAAACAGCCTAATAGTACCCAATATCATGTGGTAGCATTCCCAGTGGCCCTCAGGGTCAGATCTGCCCAGTTGGCTGTGAGCCAGGATGAAGGCACTGCAGCCTACCTCAGGGCTGAAACCCTTGGTGAAGTCCTTCATGCGACTCAGGGTGGGTCCCAGGTCCACGCTGCTGCAGTTCAGGAGCACGCTCAGCAAGGCATGAGTTGCACAAGAGTTGGGTATCAGCTGTGAAACCAAGAATAGTCACCCATACACAGCACCCCTCACTGCAAGCCCCAAGCCCATATACATCAAGAATGGGGATCCAGAGCAGGTCAGTCATATCTGGACAACTCCCCTTCTCAGCTCCTTTCATCTTTGCCTAATGTTTATTCATTTAACAAGCACCTACCAAATACCCACTGGATATCTGAGGACACAGAGAGTGGACTCAGACACCCTCCTACTCTAAAGCTGTTCCCTTTAATGAATTAAGAGTTCAGTTCGTTCTGCCAGAGGATTTCTGTAGCTACCACCCCTAGAATCTGCCTATCTCCTCCTCCTGTCTTCCTCCATTTCCACTTCCCAAGCAAAAACATGGCAGCATCCCACCCTCCAAACAAAGCACAGAGTCCAGCAGACCTGGTGGGCAAAGAACATGTTATTCACAATATCATCATCAATCACGGACGTATCATCCACCAAGGTAGAGACCTTTCGCCGGGACCGGCGCTCTTCGATCCATTTGAACAGGAAGATAAATCCATATACAGGGCTGGGGGAAGTAAGGGGCAGAGCCAGATCAGCCAAAGGGGAGAAGACAATCAGCATTCCCTTCTTTCTCCCATTAATCCTTTGCACTGCGTCATCACTCAGGTGTCCTTGCTGTGATCCCCCCTCTCCCCTGGCTTCTTCCCAACACTGTGTCTGAAGTGGCCTTGTGCCCTCACACACCAAAGGCCTGCCACAGGCAGAGCAAAGCATAAGCCTCTGACTGTGATGCTCCAGGAGTCCACCCAGTCTCCTTATGAAGTCTATAGTTCTGGGTAAGAGAAGAAAAGCTGGAACTGAGGGCCAAGGATGGGACAGGGTAGGAACACAAAGTAAGACAAGAACAAAAACTCTGATGAGGAACTGAGGCACTCCTTCTCACTTGTGGGCCCCAATGCAGTCAGGAAAGCAAATGAACACCCACACCAGTCTCTTTTGTTCCAGGAAATTAAAGTAGACTTCTTGGTTCAGTCACGGTTGCTACTGTTGCTACTCTCTTACACATCTATTCTGCAGGACCACTGGGAAAAGACTCTAAGTGTGGGCACCCAGGAGGGGCCTTGTCACCCCAACCAATCAATACAGGATGACTTTGTGTCAGGATTAAAGCCAAGGACACATGGGCACACTAAAATTAATACATTACACAACTGCACAAAAGACATTGTGTGACCGGGGTCTTCCCGCTGCAAGGCCAGGAAAGCAGCTGAACCAAAGGATGCTTAGGGGTGGGGAGGGGGCTGCTACAAAAAGGGAAGCGCTAAGGAAAGTTTGGGAGAAAAGAAAGTATCAGTTTGATCAGGAGCGGGCACTCAGAGAGCAAGGCTGCTGCTTTCTGTGAGATTTTACAACGTAGGGTTCCTGGCACTGTCTTCCCTAAGGGGCCCTGTTCTCTGGGACCTTCCCCAGCACTCTGGGTGTAAGGGGCAGCCCTGGTGTACAGCCACTCACCCCTGACATTTGCTCTGAAGGTCGTAGATCTCCTCCACTTGCACCCCCTTGACACCTGCGATGAGGAAAGGAAAGCAGTAGGGAAGGACAGCCCCTGATGAGTGAGGGCGCAGGGGTGGGCCGCCACAGCCCCGGTCCGGCAGGGAGAAAAGGCTCTTACCGAAATCTTCCACGAGCAGGGTGAAGAGGCCTGGGTGGGGCGACAAGAGGAGGGGGTGATGGTCAGGCAGGCGCGTCCCGGGCCCATCCGGCCTCCCCAGCCCCTGGCCCTCCCGGTCCCCTCCTCACCTGGGTCGCTCTCCAGCTCCAGCCAGCCCTTATTCGTCTTCCCGCGGGGCGGCCCCTCAGCGCCATGTCCAGGCCCTCCCTCCCCACCGCTGCCCCCACCGGGAGCCCCCACCGCCCCCGGGGCCCCTCAGTCCCACACACAGACAACGGGCCCAGTCGCGTCACCCGCCCGCGCCGGCGGCAGACGTCACCAAGGCGCGACGGCCCTGCTCCGCCTCTGGGCTCGTCTTCCGCCTGTCGGACAGCAGATGCGGGCATGCGCTCGAAGGCGAACGCGCACGCGCGGAGGGACGGGGGCGAAGGGGAGGGACGGGGGCGAAGGGGAGGGGCGGGGCGGGACGGGACGGGGGCGAAGGGGAGGGGCGGGGCGGGACGGGGGCGAAGGGGAGGGTCGGGACGAGGCGGGCGAAGGGAAGAGGGGGTCCGGGCGATGCTGAGCGCTGAGGCTCGAGAGGAGGGGCGGGACGGGCAGTACTAGGCCCGGGTGCTGCGAGGGGAGGGGCGGAGCGGGCGAGGGGAAAAGGCGGGGCCGGGAAGTGCTGGGCGCAGGTGGGGCGAGAGGAGGGGCGGGGCAGGCTAGGGGAAAAGGCGGGGATGGGCGGGGCTGGGCGCGGATGGTGGGAGAGGAGGGACGGGGCGGGGCGGCGAACGGAAGGGGCGGGGGCGGGTGTTGGGCGCTGAGGCGCGAGAGGAGGGGATGGGCGGGGCGCGCGGCCGTTAGCGCGCGGCCGTTAGCGGTCGGTTTCTACTAACGGTAGGCGTCGCCGCGATTCCCGAAGGTCATAGTCCGCGTGACCCACCCCCGTTTGCGCGCTCGCAGTCTTCGCCGGCGCAGTCACCGCGCAGGGCGGCCGCCCGGAGGTAGCTACCACGGCCTGTGTCAACGACTAAAGCTCCAGTACAGCGGCGCCCTCAGACAGCTGGGAGGGTGGCTCTGGCCGGGAGCGGCGGCCGGTGAGCTACCGCGAGGAGGAGCGGCGGAGGCGACCTCGGCCCGGCCCTGCACTGGCCGCCCGGCAGGCGCGACATGAGCCTGGTCTGGCATCCGCGGGATGCTCCTTAAGCCCCTTCTCCGGCTGTTAACCTCCGGGGAACGGTTGTGACCACACCGACACGTATTTTACAGATAAATCATTCTTGCGGCGGCGGGTCGAACACGTTTATTTATTTTTTATTTTCTCAACAAGCTTTTACCCAGCACCTGTCCAGTGAAACAACTTGATAATCGTTTCGAGGGGCGTCCGCCGGGTTAGGAAGCCACTGCCTGGCAGCTTGTGGAAGCCTCATTTGCAAAGCCACCCCTCAGATGTTTTGAAGATCGTGACGTCTTGTAACTAGCAGTGTGTGCACAGAATCCTACTCAAGGAACGTCTTGGCCCAGCGATGCAAAGAACTGAAGTTTCAAGGTTTTATGTCTATTGCTGGATGGTCGGGGTAGCCCCAGTAACTGGGAACTGCTCCGCAGTCCGCTCACGTGGACCCCTGTGGGAATAGCAAGGTCAGGACATGCCCTTCTCTCTCCTCTTCCAGCCTGTCCAGTGTTTTCCTTAAGGAAGAAGCCATCAGATGTCATTGCTTCTGCAACTCCTGGGTTAGAGGAGGAGACAGAACAAGCACAAAGAAGGGGAGGGCAGGGTGGCTTTGGTTTCTTGAACAGTAATTTCCTCAGTCGTCCTTATTCATGCAGAATAGTTTAAAGTCCCTGAAGATATTCCCGATCTCCAGCCGTGATCGGAGGCCATGGATACTGGAGTGTCTCTGGAGTGACCTGATTCACCCAGCCCTCCTTCTAAGAAATGCTGTCCTTCTCCTCTCCCCTGACTAGACAGTCCTTGCTTCACAGCGGTGGATTTTCTTTCGTTCCCGTTCACTTTCAGGGATCTCCCCGTTAACCAGTGAAACTGTACATTTGTTTTACAGTTTGTTTACTAATGAAAACAGGTAACAGCCGGAGTTGGCTGACATTGGAAATAGGAGACAAGGTACCTTCTGCACTTTTGGCTATTGTACTCGGCTCAGATGGAGACAAAGGTTGGGTACAGACCATATCTCAGTGGCCACCTGAGCCTAGGTGAAAAGAATT
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Task1_train_7075
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Gene TNNC1 (troponin C1, slow skeletal and cardiac type) on Chromosome 3 is impacted by this variant. Evaluate whether it is clinically benign or pathogenic and name the disorder if relevant.
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Pathogenic; Dilated cardiomyopathy 1Z
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CCTGTAATCCCAGCTACTTGGGTGGCTGAGGCACGAGGATCGCTTGAACCTGGGAGGCAGGGGTTACAGTGAGCCGAGATTGTGCCACTGCGCTCCAGTCTGGTGACACAGCGAGACTCTGTCTCAAAAAAAGAAAAAGGCCGGGCGCGGTGGCTCACGCCTGTAATCCTAGCACTTTGGAAGGCCGAGGCAGGTGGATCACGAGGTCAGGAGATTGAGACCATCCTGGCTAACACGGTGAAACCCCATCTCTAGTAAAAATACAAAAAATTAGCTGGGTGTGGTGGCGGGCGCCTGTAGTCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATGGCGTGAATCTGGGAGGCAGAGCTTGCAGTGAGCTGAGATCGCACCACTGCACTCCAGCCTGGGTGACAGAGTGAGACTCCGTCTCAAAAAAAAAGAAAAAAAAAATCCACCAGATTAGGGACTGGGCCTCACTGTGACATGCCCCAGGATCCAGCCCTGTGCTGTGCGCGTGGTGGGTGTGTGAGTGAACCACTGGGTGGTGCACCGGCTGCTGGTGCTGCCCGATGTGGCGCTTCCTTTTATCCTCGGATGTCACCCTTCCTGGGTCACTCTGGGTGTCTGTAGAGGTCCCCAATTCTCCAGCTCACAAGGGCAGGCCTGAAGGGACTCCTCTCTGCTCCCCTCAGGTCTCTCCAGGGACCAGAAAGCTCTTGCTAGCGCTGGCCTCCATCAGAGGCATTTTTAGAATTCCAAGACCATCTCTGGAATGCCAGGCCTGTCTGGGGAATGCCAAGGCTGGGGCACAGGTGCAGAGAGAGTGGAGTGGCTGGGCGGGGCAAGGTCAGCTGACGGCATTCTGGCTACAGCCTGGGTGCTGCTGGCAGCTGTCCCTCCTGCGAACACCTCTGCTGACACTTCCACTTCCTTGCAGCCCCCAACGCCCACGCCTCCAAGACAGCATCACTGTCTGGCGGCAGCTCTGGACTGGGTGCTCCCACTAAGCTGAGAGCTGCCAGGCCTTGGGCCTCCATCCCTGCCAGGGAGAGAGACTGGGCCACAAGAGATGAGCCTCTGAGGTTCACGGGAACTGGAAATCATGTCCATTTGGATGTGGCCCATCCGACAGGGCCCTTGGCTGGAAGCCAGTTGGCTCTGCTCTCCCCCACACTCACTGGATGACCTTGACAGGTCCCTGCACCTCTCTGGGCCAAACAGGTGAGGGGAGATAGAGCCGACTCCATGCCCCTCTGTCCCTGGGAGTCAATGTTGCTGGCAGGAAATACAAGCAAGTGGGCGGGTGGACTAGCACTGTGAGCCTGCAGGGACCCCACAGGCTCAGCTCCATTCCAGCCACGGCTGAGAGGTAACAGGGGTTGCTGTGCCAGGGAGCATCCAAGGGCCTGGCTGTGTACCACAGTGAACCACTCTCTCCAAGTAGAGGACCCCTAGGCTGCCACAGTGGTTGACCAAAGTGATGGCCCCCAGGAACTTGTGGGGGTTCTAGGCCCCCACAGACTCCAGATGCTGAATCCCTAGAGATGGTGCCTGGGCCTGAGGAGTGATAGAGGGCAGCAAGCAGGGCAGGCCACACGGCAGTCTCCGATCTCATCTCACCCCCCTGCAGAAGGCAGTGTGGAGCGGTGGTCAGGCGCCAGGCTCTGCAGCCAGCCTGCCTAGGACAGGGAAGGAAGCGGCCATTGGGTAAGAGTGGGTCCTGGGGATGAGTCCACGGCCCAGGGACACCAGAGCCAGATAGCAGACCTTGGGAGAGCAGGCTTTATTTGCATCCCCCAGGACAGATCTGGGGAGGGAGTCGGGGGATTTGGGGTTGAGGACATGGCCAGGCTCAGGTCCTGGGACCCCGACCCCCTCCCCAACCCCAGGACTCAGCTGGAGTTGGAGGCTGGGCATAGGCAGCTCTGGGTGAAGGTCAGCATCTACTCCACACCCTTCATGAACTCCAGGAACTCTGTGGAAAGAGGGGCAGGTGTGGGTTGAGGGTAGGGGCTGGGCAGGGCATGGAGGCAGGAGATCAGCCCACCCACCCGCTTACCATCATAGTCGATGCGGCCGTCGTTGTTCTTGTCTCCGTCCTTCATGAGCTCCTCGATGTCGTCCTCCGTGATGGTCTCGCCTGTAGCCTGCAGCATTATCTTCAGCTCATCCAGGTCGATGTAGCCATCAGCATTTCTGTGGGGAGGGGGCTCAGGGTAGGGCTGTGGGGAGGGCATGAGGCAGCCCCACCCATGCCCCAGGAGGCAGAGCAGGGACACTGGGAGATGGGGCATCCCTCTCCCCTATCAGGCAGAGGCCACAGGGTCCCTAGGCCTGGAATCTGAGACTGCCCTCCTGTACAGCTCGGCTTGAGTGTGGGTCAGGGTCAGAGGTCAAGGGTCACGTGCTCACTTGTCAAACATGCGGAAGAGGTCAGACAGCTCCTCCTCAGATTTCCCTTTGCTGTCGTCCTTCATGCACCGAACCATCATGACCAGGAACTCATCAAAGTCCACCGTGCCGCTGCCTGGGGGTGGGCAGCATGGCCGTTACAGAGGCCAGGGTAGGTACTGCAGGCAGCACCTTCGACACGAACCCCCATGTTCTCACCGCATCCTCACACCAAACGCCAGGCTTGTGTAGCCCTTATGCCCATTTTATAGATGAGGCAACCAAGGCTCGGATAGGCTAAATTGCTCCCAGCTAAACAGAGCCAGCATTCCAGCCCCCAGCCAGCTGGGGTTCTTCTGGAGCCTGGGGAGGAGGGGGCTCACCGTCCTCGTCCACCTCATCGATCATCTCCTGCAGCTCCTCAGGGGTGGGGTTCTGGCCCAGCATCCTCATCACCTTGCCCAGCTCCTTGGTGCTGATGCAGCCATCCTCAGCGCCCAGCACGAAGATGTCGAAGGCTGCCTTGAACTCTGTGTTCAGGGGTTGGGGGGCACAGTAGTCAGGGCTCAGCAGCCAGGACCACGGAGGGCCAGAACCCTGGGGCCACCTGCCAACCTGCCCACCTCCCTCGGAGACCTCTCTGAGGGCAGAGCAAGAGGGACCAAGCCTCTGGTCTCTGGCCTGGGGTCCTCTTCTGATAAGGGGTCCCCATGCCAGCCTGGACCCGCTGGTCTCCCACATGTGTGATAGGGATTCTCACCATTTTTCTGCTCTTCTGTCAGCTGCTCTACCTAGAAAGGAAAGGGAATCTCAAGGCTCAGACTCAGGTATAGCTGCTGCTGAGGAAACCAACCCATTCCACAGGTGAGAAGGCTGGAGCTGGAGGAGGCAGGCTATTTCCAGGCCACAGAGTGGAGGTCTCAGTCCTCCCTCCCTGCCCCCAAAGCCCTGACGTGACCCAGCTGGCCTCACTGCGACTGGGCTCAGGGCCAGGGTGACAGGTGGGCACCCCCTTCAGGACCAAGGTGACCCTCAGTAACAATAGTCAGTGACCACTCAATGCCCTTTCGGCCCCTGATGAAACTCAAGCTGGGTGGCCCGAAGGACAGCTGTCCCTCAAGTTGGGATAATAAAACCAGTGTGGAGGCAGGCAAGCCACCCACGGTAACCTGACCAGGGTGGCCACTGGGCTATTTTTAACGAGGAACAAAGTTAAACCTGGTGATTGTTCTGGGGACTTTGGCATGCAGGGGGTGGGGCAGCGTTATCTGGCCCCCTGGCCTGCTAGTGCCGCCTCAGAAGCCAAAATTAGTCCCCAACTCCGCCAGGCCTTGTATGGGCACTGGGTGGAGGGCTGTCCCAACCCCGGCTCCATGGACTCCCACAGGATAAGCAGGCGTGCCCCCAGAGCTGGCTATAGCACTTCCCTGCCCAGGAGTGAGGGAGGCTGAGGGAGGGGTTCCCCTGGGGACAGCTGGCCATGCCAGGATGTCCTTGCTCTGGGGTTGGGGGAGGTCACCACCACCCAGGATAGAATAGCATCTGAAGACCCTCAGTGACCCAGGAGGTTGCAGGGGCTTGGGGTGACCACTCTCCAGCCCTCATTCCCTCGCTCTCACCCCTAGCTAAGCCACTGAGCCCTGAGCCTGCCAGGCATGATGGGAGCTGGGGCCCCAGTTCTCTGTTCCTTCTTCCTTGGTTCTCCCTCATGTCCAG
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CCTGTAATCCCAGCTACTTGGGTGGCTGAGGCACGAGGATCGCTTGAACCTGGGAGGCAGGGGTTACAGTGAGCCGAGATTGTGCCACTGCGCTCCAGTCTGGTGACACAGCGAGACTCTGTCTCAAAAAAAGAAAAAGGCCGGGCGCGGTGGCTCACGCCTGTAATCCTAGCACTTTGGAAGGCCGAGGCAGGTGGATCACGAGGTCAGGAGATTGAGACCATCCTGGCTAACACGGTGAAACCCCATCTCTAGTAAAAATACAAAAAATTAGCTGGGTGTGGTGGCGGGCGCCTGTAGTCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATGGCGTGAATCTGGGAGGCAGAGCTTGCAGTGAGCTGAGATCGCACCACTGCACTCCAGCCTGGGTGACAGAGTGAGACTCCGTCTCAAAAAAAAAGAAAAAAAAAATCCACCAGATTAGGGACTGGGCCTCACTGTGACATGCCCCAGGATCCAGCCCTGTGCTGTGCGCGTGGTGGGTGTGTGAGTGAACCACTGGGTGGTGCACCGGCTGCTGGTGCTGCCCGATGTGGCGCTTCCTTTTATCCTCGGATGTCACCCTTCCTGGGTCACTCTGGGTGTCTGTAGAGGTCCCCAATTCTCCAGCTCACAAGGGCAGGCCTGAAGGGACTCCTCTCTGCTCCCCTCAGGTCTCTCCAGGGACCAGAAAGCTCTTGCTAGCGCTGGCCTCCATCAGAGGCATTTTTAGAATTCCAAGACCATCTCTGGAATGCCAGGCCTGTCTGGGGAATGCCAAGGCTGGGGCACAGGTGCAGAGAGAGTGGAGTGGCTGGGCGGGGCAAGGTCAGCTGACGGCATTCTGGCTACAGCCTGGGTGCTGCTGGCAGCTGTCCCTCCTGCGAACACCTCTGCTGACACTTCCACTTCCTTGCAGCCCCCAACGCCCACGCCTCCAAGACAGCATCACTGTCTGGCGGCAGCTCTGGACTGGGTGCTCCCACTAAGCTGAGAGCTGCCAGGCCTTGGGCCTCCATCCCTGCCAGGGAGAGAGACTGGGCCACAAGAGATGAGCCTCTGAGGTTCACGGGAACTGGAAATCATGTCCATTTGGATGTGGCCCATCCGACAGGGCCCTTGGCTGGAAGCCAGTTGGCTCTGCTCTCCCCCACACTCACTGGATGACCTTGACAGGTCCCTGCACCTCTCTGGGCCAAACAGGTGAGGGGAGATAGAGCCGACTCCATGCCCCTCTGTCCCTGGGAGTCAATGTTGCTGGCAGGAAATACAAGCAAGTGGGCGGGTGGACTAGCACTGTGAGCCTGCAGGGACCCCACAGGCTCAGCTCCATTCCAGCCACGGCTGAGAGGTAACAGGGGTTGCTGTGCCAGGGAGCATCCAAGGGCCTGGCTGTGTACCACAGTGAACCACTCTCTCCAAGTAGAGGACCCCTAGGCTGCCACAGTGGTTGACCAAAGTGATGGCCCCCAGGAACTTGTGGGGGTTCTAGGCCCCCACAGACTCCAGATGCTGAATCCCTAGAGATGGTGCCTGGGCCTGAGGAGTGATAGAGGGCAGCAAGCAGGGCAGGCCACACGGCAGTCTCCGATCTCATCTCACCCCCCTGCAGAAGGCAGTGTGGAGCGGTGGTCAGGCGCCAGGCTCTGCAGCCAGCCTGCCTAGGACAGGGAAGGAAGCGGCCATTGGGTAAGAGTGGGTCCTGGGGATGAGTCCACGGCCCAGGGACACCAGAGCCAGATAGCAGACCTTGGGAGAGCAGGCTTTATTTGCATCCCCCAGGACAGATCTGGGGAGGGAGTCGGGGGATTTGGGGTTGAGGACATGGCCAGGCTCAGGTCCTGGGACCCCGACCCCCTCCCCAACCCCAGGACTCAGCTGGAGTTGGAGGCTGGGCATAGGCAGCTCTGGGTGAAGGTCAGCATCTACTCCACACCCTTCATGAACTCCAGGAACTCTGTGGAAAGAGGGGCAGGTGTGGGTTGAGGGTAGGGGCTGGGCAGGGCATGGAGGCAGGAGATCAGCCCACCCACCCGCTTACTATCATAGTCGATGCGGCCGTCGTTGTTCTTGTCTCCGTCCTTCATGAGCTCCTCGATGTCGTCCTCCGTGATGGTCTCGCCTGTAGCCTGCAGCATTATCTTCAGCTCATCCAGGTCGATGTAGCCATCAGCATTTCTGTGGGGAGGGGGCTCAGGGTAGGGCTGTGGGGAGGGCATGAGGCAGCCCCACCCATGCCCCAGGAGGCAGAGCAGGGACACTGGGAGATGGGGCATCCCTCTCCCCTATCAGGCAGAGGCCACAGGGTCCCTAGGCCTGGAATCTGAGACTGCCCTCCTGTACAGCTCGGCTTGAGTGTGGGTCAGGGTCAGAGGTCAAGGGTCACGTGCTCACTTGTCAAACATGCGGAAGAGGTCAGACAGCTCCTCCTCAGATTTCCCTTTGCTGTCGTCCTTCATGCACCGAACCATCATGACCAGGAACTCATCAAAGTCCACCGTGCCGCTGCCTGGGGGTGGGCAGCATGGCCGTTACAGAGGCCAGGGTAGGTACTGCAGGCAGCACCTTCGACACGAACCCCCATGTTCTCACCGCATCCTCACACCAAACGCCAGGCTTGTGTAGCCCTTATGCCCATTTTATAGATGAGGCAACCAAGGCTCGGATAGGCTAAATTGCTCCCAGCTAAACAGAGCCAGCATTCCAGCCCCCAGCCAGCTGGGGTTCTTCTGGAGCCTGGGGAGGAGGGGGCTCACCGTCCTCGTCCACCTCATCGATCATCTCCTGCAGCTCCTCAGGGGTGGGGTTCTGGCCCAGCATCCTCATCACCTTGCCCAGCTCCTTGGTGCTGATGCAGCCATCCTCAGCGCCCAGCACGAAGATGTCGAAGGCTGCCTTGAACTCTGTGTTCAGGGGTTGGGGGGCACAGTAGTCAGGGCTCAGCAGCCAGGACCACGGAGGGCCAGAACCCTGGGGCCACCTGCCAACCTGCCCACCTCCCTCGGAGACCTCTCTGAGGGCAGAGCAAGAGGGACCAAGCCTCTGGTCTCTGGCCTGGGGTCCTCTTCTGATAAGGGGTCCCCATGCCAGCCTGGACCCGCTGGTCTCCCACATGTGTGATAGGGATTCTCACCATTTTTCTGCTCTTCTGTCAGCTGCTCTACCTAGAAAGGAAAGGGAATCTCAAGGCTCAGACTCAGGTATAGCTGCTGCTGAGGAAACCAACCCATTCCACAGGTGAGAAGGCTGGAGCTGGAGGAGGCAGGCTATTTCCAGGCCACAGAGTGGAGGTCTCAGTCCTCCCTCCCTGCCCCCAAAGCCCTGACGTGACCCAGCTGGCCTCACTGCGACTGGGCTCAGGGCCAGGGTGACAGGTGGGCACCCCCTTCAGGACCAAGGTGACCCTCAGTAACAATAGTCAGTGACCACTCAATGCCCTTTCGGCCCCTGATGAAACTCAAGCTGGGTGGCCCGAAGGACAGCTGTCCCTCAAGTTGGGATAATAAAACCAGTGTGGAGGCAGGCAAGCCACCCACGGTAACCTGACCAGGGTGGCCACTGGGCTATTTTTAACGAGGAACAAAGTTAAACCTGGTGATTGTTCTGGGGACTTTGGCATGCAGGGGGTGGGGCAGCGTTATCTGGCCCCCTGGCCTGCTAGTGCCGCCTCAGAAGCCAAAATTAGTCCCCAACTCCGCCAGGCCTTGTATGGGCACTGGGTGGAGGGCTGTCCCAACCCCGGCTCCATGGACTCCCACAGGATAAGCAGGCGTGCCCCCAGAGCTGGCTATAGCACTTCCCTGCCCAGGAGTGAGGGAGGCTGAGGGAGGGGTTCCCCTGGGGACAGCTGGCCATGCCAGGATGTCCTTGCTCTGGGGTTGGGGGAGGTCACCACCACCCAGGATAGAATAGCATCTGAAGACCCTCAGTGACCCAGGAGGTTGCAGGGGCTTGGGGTGACCACTCTCCAGCCCTCATTCCCTCGCTCTCACCCCTAGCTAAGCCACTGAGCCCTGAGCCTGCCAGGCATGATGGGAGCTGGGGCCCCAGTTCTCTGTTCCTTCTTCCTTGGTTCTCCCTCATGTCCAG
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Task1_train_7076
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A mutation in TNNC1 (troponin C1, slow skeletal and cardiac type), located on Chromosome 3, is being studied. Determine whether it’s pathogenic or benign, and specify the linked disease.
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Pathogenic; Dilated cardiomyopathy 1Z
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GTGGCTGGGCGGGGCAAGGTCAGCTGACGGCATTCTGGCTACAGCCTGGGTGCTGCTGGCAGCTGTCCCTCCTGCGAACACCTCTGCTGACACTTCCACTTCCTTGCAGCCCCCAACGCCCACGCCTCCAAGACAGCATCACTGTCTGGCGGCAGCTCTGGACTGGGTGCTCCCACTAAGCTGAGAGCTGCCAGGCCTTGGGCCTCCATCCCTGCCAGGGAGAGAGACTGGGCCACAAGAGATGAGCCTCTGAGGTTCACGGGAACTGGAAATCATGTCCATTTGGATGTGGCCCATCCGACAGGGCCCTTGGCTGGAAGCCAGTTGGCTCTGCTCTCCCCCACACTCACTGGATGACCTTGACAGGTCCCTGCACCTCTCTGGGCCAAACAGGTGAGGGGAGATAGAGCCGACTCCATGCCCCTCTGTCCCTGGGAGTCAATGTTGCTGGCAGGAAATACAAGCAAGTGGGCGGGTGGACTAGCACTGTGAGCCTGCAGGGACCCCACAGGCTCAGCTCCATTCCAGCCACGGCTGAGAGGTAACAGGGGTTGCTGTGCCAGGGAGCATCCAAGGGCCTGGCTGTGTACCACAGTGAACCACTCTCTCCAAGTAGAGGACCCCTAGGCTGCCACAGTGGTTGACCAAAGTGATGGCCCCCAGGAACTTGTGGGGGTTCTAGGCCCCCACAGACTCCAGATGCTGAATCCCTAGAGATGGTGCCTGGGCCTGAGGAGTGATAGAGGGCAGCAAGCAGGGCAGGCCACACGGCAGTCTCCGATCTCATCTCACCCCCCTGCAGAAGGCAGTGTGGAGCGGTGGTCAGGCGCCAGGCTCTGCAGCCAGCCTGCCTAGGACAGGGAAGGAAGCGGCCATTGGGTAAGAGTGGGTCCTGGGGATGAGTCCACGGCCCAGGGACACCAGAGCCAGATAGCAGACCTTGGGAGAGCAGGCTTTATTTGCATCCCCCAGGACAGATCTGGGGAGGGAGTCGGGGGATTTGGGGTTGAGGACATGGCCAGGCTCAGGTCCTGGGACCCCGACCCCCTCCCCAACCCCAGGACTCAGCTGGAGTTGGAGGCTGGGCATAGGCAGCTCTGGGTGAAGGTCAGCATCTACTCCACACCCTTCATGAACTCCAGGAACTCTGTGGAAAGAGGGGCAGGTGTGGGTTGAGGGTAGGGGCTGGGCAGGGCATGGAGGCAGGAGATCAGCCCACCCACCCGCTTACCATCATAGTCGATGCGGCCGTCGTTGTTCTTGTCTCCGTCCTTCATGAGCTCCTCGATGTCGTCCTCCGTGATGGTCTCGCCTGTAGCCTGCAGCATTATCTTCAGCTCATCCAGGTCGATGTAGCCATCAGCATTTCTGTGGGGAGGGGGCTCAGGGTAGGGCTGTGGGGAGGGCATGAGGCAGCCCCACCCATGCCCCAGGAGGCAGAGCAGGGACACTGGGAGATGGGGCATCCCTCTCCCCTATCAGGCAGAGGCCACAGGGTCCCTAGGCCTGGAATCTGAGACTGCCCTCCTGTACAGCTCGGCTTGAGTGTGGGTCAGGGTCAGAGGTCAAGGGTCACGTGCTCACTTGTCAAACATGCGGAAGAGGTCAGACAGCTCCTCCTCAGATTTCCCTTTGCTGTCGTCCTTCATGCACCGAACCATCATGACCAGGAACTCATCAAAGTCCACCGTGCCGCTGCCTGGGGGTGGGCAGCATGGCCGTTACAGAGGCCAGGGTAGGTACTGCAGGCAGCACCTTCGACACGAACCCCCATGTTCTCACCGCATCCTCACACCAAACGCCAGGCTTGTGTAGCCCTTATGCCCATTTTATAGATGAGGCAACCAAGGCTCGGATAGGCTAAATTGCTCCCAGCTAAACAGAGCCAGCATTCCAGCCCCCAGCCAGCTGGGGTTCTTCTGGAGCCTGGGGAGGAGGGGGCTCACCGTCCTCGTCCACCTCATCGATCATCTCCTGCAGCTCCTCAGGGGTGGGGTTCTGGCCCAGCATCCTCATCACCTTGCCCAGCTCCTTGGTGCTGATGCAGCCATCCTCAGCGCCCAGCACGAAGATGTCGAAGGCTGCCTTGAACTCTGTGTTCAGGGGTTGGGGGGCACAGTAGTCAGGGCTCAGCAGCCAGGACCACGGAGGGCCAGAACCCTGGGGCCACCTGCCAACCTGCCCACCTCCCTCGGAGACCTCTCTGAGGGCAGAGCAAGAGGGACCAAGCCTCTGGTCTCTGGCCTGGGGTCCTCTTCTGATAAGGGGTCCCCATGCCAGCCTGGACCCGCTGGTCTCCCACATGTGTGATAGGGATTCTCACCATTTTTCTGCTCTTCTGTCAGCTGCTCTACCTAGAAAGGAAAGGGAATCTCAAGGCTCAGACTCAGGTATAGCTGCTGCTGAGGAAACCAACCCATTCCACAGGTGAGAAGGCTGGAGCTGGAGGAGGCAGGCTATTTCCAGGCCACAGAGTGGAGGTCTCAGTCCTCCCTCCCTGCCCCCAAAGCCCTGACGTGACCCAGCTGGCCTCACTGCGACTGGGCTCAGGGCCAGGGTGACAGGTGGGCACCCCCTTCAGGACCAAGGTGACCCTCAGTAACAATAGTCAGTGACCACTCAATGCCCTTTCGGCCCCTGATGAAACTCAAGCTGGGTGGCCCGAAGGACAGCTGTCCCTCAAGTTGGGATAATAAAACCAGTGTGGAGGCAGGCAAGCCACCCACGGTAACCTGACCAGGGTGGCCACTGGGCTATTTTTAACGAGGAACAAAGTTAAACCTGGTGATTGTTCTGGGGACTTTGGCATGCAGGGGGTGGGGCAGCGTTATCTGGCCCCCTGGCCTGCTAGTGCCGCCTCAGAAGCCAAAATTAGTCCCCAACTCCGCCAGGCCTTGTATGGGCACTGGGTGGAGGGCTGTCCCAACCCCGGCTCCATGGACTCCCACAGGATAAGCAGGCGTGCCCCCAGAGCTGGCTATAGCACTTCCCTGCCCAGGAGTGAGGGAGGCTGAGGGAGGGGTTCCCCTGGGGACAGCTGGCCATGCCAGGATGTCCTTGCTCTGGGGTTGGGGGAGGTCACCACCACCCAGGATAGAATAGCATCTGAAGACCCTCAGTGACCCAGGAGGTTGCAGGGGCTTGGGGTGACCACTCTCCAGCCCTCATTCCCTCGCTCTCACCCCTAGCTAAGCCACTGAGCCCTGAGCCTGCCAGGCATGATGGGAGCTGGGGCCCCAGTTCTCTGTTCCTTCTTCCTTGGTTCTCCCTCATGTCCAGAACTTCCCTGCCTCAAACTTCAAAGCCCCATCTCCAGCCCAGGACTCAGGCTCTACAGACCCCTCCTCTCACACCCTCCACCCTCCAAAGCATCTTCGGCCCGCCAAGGGGCTGGAGTGGGGTGGCAGATTTTGAGCATGTGAGAAGCAGAATGTGAGGGGCAGAAATGGGGGTTGGGGACAGGGAGACAGTAATGGGGACTCAGACAGCTCAGGAGGAAGAGATGAAAAGAGAAAGGCAAAAACGTCCAGAGACAAATGCAGAGACATGTGGCTGAGCGACAGTGCCACAGACCACAGACACTTGGAAACAGAGAGTGAGACACGATGCTGAAAGCTGCAACCTCCTCCACCACCCTTCAGACCCGGAACCCCCTACCCCTTCTGCATCCTCAAACACCAGAATCACTGTCCCTGTGAGGGCCTGGGTTGAAGGCACGTAGGCCTTCTCCTTGGTCCCCACCACTTCCCTGGGGCTACTAACCCCGCACTCTCAGCTGAGTGAGCCCCCAGTGGGCCTGCCCACCCCAGCCCTACCCAGCCCTGTCCCTCACCGCAGCCTTGTAGATGTCATCCATGCTGGCGGCTCACAGGACAGCTTGCTGGGGTTGCCAGCCGGCCCTTGACTTAAATAGCCCTGCCCCGCTGCATTCCTGGCCCAGCCCAGCCCAGCCCAGCCCACCCCTGCGTGTAGTATCCTCCAGCCCCTCCTCTGGTCCCAGTGATCTCAGGCTGGCCTGAGTCCCCACGTCCTCTGCCCAGGGCAGGGAGCAGACGAACGGCTACAAGGACCAGGTTTCTTTCCCTCCTGTCCCCCA
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GTGGCTGGGCGGGGCAAGGTCAGCTGACGGCATTCTGGCTACAGCCTGGGTGCTGCTGGCAGCTGTCCCTCCTGCGAACACCTCTGCTGACACTTCCACTTCCTTGCAGCCCCCAACGCCCACGCCTCCAAGACAGCATCACTGTCTGGCGGCAGCTCTGGACTGGGTGCTCCCACTAAGCTGAGAGCTGCCAGGCCTTGGGCCTCCATCCCTGCCAGGGAGAGAGACTGGGCCACAAGAGATGAGCCTCTGAGGTTCACGGGAACTGGAAATCATGTCCATTTGGATGTGGCCCATCCGACAGGGCCCTTGGCTGGAAGCCAGTTGGCTCTGCTCTCCCCCACACTCACTGGATGACCTTGACAGGTCCCTGCACCTCTCTGGGCCAAACAGGTGAGGGGAGATAGAGCCGACTCCATGCCCCTCTGTCCCTGGGAGTCAATGTTGCTGGCAGGAAATACAAGCAAGTGGGCGGGTGGACTAGCACTGTGAGCCTGCAGGGACCCCACAGGCTCAGCTCCATTCCAGCCACGGCTGAGAGGTAACAGGGGTTGCTGTGCCAGGGAGCATCCAAGGGCCTGGCTGTGTACCACAGTGAACCACTCTCTCCAAGTAGAGGACCCCTAGGCTGCCACAGTGGTTGACCAAAGTGATGGCCCCCAGGAACTTGTGGGGGTTCTAGGCCCCCACAGACTCCAGATGCTGAATCCCTAGAGATGGTGCCTGGGCCTGAGGAGTGATAGAGGGCAGCAAGCAGGGCAGGCCACACGGCAGTCTCCGATCTCATCTCACCCCCCTGCAGAAGGCAGTGTGGAGCGGTGGTCAGGCGCCAGGCTCTGCAGCCAGCCTGCCTAGGACAGGGAAGGAAGCGGCCATTGGGTAAGAGTGGGTCCTGGGGATGAGTCCACGGCCCAGGGACACCAGAGCCAGATAGCAGACCTTGGGAGAGCAGGCTTTATTTGCATCCCCCAGGACAGATCTGGGGAGGGAGTCGGGGGATTTGGGGTTGAGGACATGGCCAGGCTCAGGTCCTGGGACCCCGACCCCCTCCCCAACCCCAGGACTCAGCTGGAGTTGGAGGCTGGGCATAGGCAGCTCTGGGTGAAGGTCAGCATCTACTCCACACCCTTCATGAACTCCAGGAACTCTGTGGAAAGAGGGGCAGGTGTGGGTTGAGGGTAGGGGCTGGGCAGGGCATGGAGGCAGGAGATCAGCCCACCCACCCGCTTACCATCATAGTCGATGCGGCCGTCGTTGTTCTTGTCTCCGTCCTTCATGAGCTCCTCGATGTCGTCCTCCGTGATGGTCTCGCCTGTAGCCTGCAGCATTATCTTCAGCTCATCCAGGTCGATGTAGCCATCAGCATTTCTGTGGGGAGGGGGCTCAGGGTAGGGCTGTGGGGAGGGCATGAGGCAGCCCCACCCATGCCCCAGGAGGCAGAGCAGGGACACTGGGAGATGGGGCATCCCTCTCCCCTATCAGGCAGAGGCCACAGGGTCCCTAGGCCTGGAATCTGAGACTGCCCTCCTGTACAGCTCGGCTTGAGTGTGGGTCAGGGTCAGAGGTCAAGGGTCACGTGCTCACTTGTCAAACATGCGGAAGAGGTCAGACAGCTCCTCCTCAGATTTCCCTTTGCTGTCGTCCTTCATGCACCGAACCATCATGACCAGGAACTCATCAAAGTCCACCGTGCCGCTGCCTGGGGGTGGGCAGCATGGCCGTTACAGAGGCCAGGGTAGGTACTGCAGGCAGCACCTTCGACACGAACCCCCATGTTCTCACCGCATCCTCACACCAAACGCCAGGCTTGTGTAGCCCTTATGCCCATTTTATAGATGAGGCAACCAAGGCTCGGATAGGCTAAATTGCTCCCAGCTAAACAGAGCCAGCATTCCAGCCCCCAGCCAGCTGGGGTTCTTCTGGAGCCTGGGGAGGAGGGGGCTCACCGTCCTCGTCCACCTCATCGATCATCTCCTGCAGCTCCTCAGGGGTGGGGTTCTGGCCCAGCATCCTCATCACCTTGCCCAGCTCCTTGGTGCTGATGCAGCGATCCTCAGCGCCCAGCACGAAGATGTCGAAGGCTGCCTTGAACTCTGTGTTCAGGGGTTGGGGGGCACAGTAGTCAGGGCTCAGCAGCCAGGACCACGGAGGGCCAGAACCCTGGGGCCACCTGCCAACCTGCCCACCTCCCTCGGAGACCTCTCTGAGGGCAGAGCAAGAGGGACCAAGCCTCTGGTCTCTGGCCTGGGGTCCTCTTCTGATAAGGGGTCCCCATGCCAGCCTGGACCCGCTGGTCTCCCACATGTGTGATAGGGATTCTCACCATTTTTCTGCTCTTCTGTCAGCTGCTCTACCTAGAAAGGAAAGGGAATCTCAAGGCTCAGACTCAGGTATAGCTGCTGCTGAGGAAACCAACCCATTCCACAGGTGAGAAGGCTGGAGCTGGAGGAGGCAGGCTATTTCCAGGCCACAGAGTGGAGGTCTCAGTCCTCCCTCCCTGCCCCCAAAGCCCTGACGTGACCCAGCTGGCCTCACTGCGACTGGGCTCAGGGCCAGGGTGACAGGTGGGCACCCCCTTCAGGACCAAGGTGACCCTCAGTAACAATAGTCAGTGACCACTCAATGCCCTTTCGGCCCCTGATGAAACTCAAGCTGGGTGGCCCGAAGGACAGCTGTCCCTCAAGTTGGGATAATAAAACCAGTGTGGAGGCAGGCAAGCCACCCACGGTAACCTGACCAGGGTGGCCACTGGGCTATTTTTAACGAGGAACAAAGTTAAACCTGGTGATTGTTCTGGGGACTTTGGCATGCAGGGGGTGGGGCAGCGTTATCTGGCCCCCTGGCCTGCTAGTGCCGCCTCAGAAGCCAAAATTAGTCCCCAACTCCGCCAGGCCTTGTATGGGCACTGGGTGGAGGGCTGTCCCAACCCCGGCTCCATGGACTCCCACAGGATAAGCAGGCGTGCCCCCAGAGCTGGCTATAGCACTTCCCTGCCCAGGAGTGAGGGAGGCTGAGGGAGGGGTTCCCCTGGGGACAGCTGGCCATGCCAGGATGTCCTTGCTCTGGGGTTGGGGGAGGTCACCACCACCCAGGATAGAATAGCATCTGAAGACCCTCAGTGACCCAGGAGGTTGCAGGGGCTTGGGGTGACCACTCTCCAGCCCTCATTCCCTCGCTCTCACCCCTAGCTAAGCCACTGAGCCCTGAGCCTGCCAGGCATGATGGGAGCTGGGGCCCCAGTTCTCTGTTCCTTCTTCCTTGGTTCTCCCTCATGTCCAGAACTTCCCTGCCTCAAACTTCAAAGCCCCATCTCCAGCCCAGGACTCAGGCTCTACAGACCCCTCCTCTCACACCCTCCACCCTCCAAAGCATCTTCGGCCCGCCAAGGGGCTGGAGTGGGGTGGCAGATTTTGAGCATGTGAGAAGCAGAATGTGAGGGGCAGAAATGGGGGTTGGGGACAGGGAGACAGTAATGGGGACTCAGACAGCTCAGGAGGAAGAGATGAAAAGAGAAAGGCAAAAACGTCCAGAGACAAATGCAGAGACATGTGGCTGAGCGACAGTGCCACAGACCACAGACACTTGGAAACAGAGAGTGAGACACGATGCTGAAAGCTGCAACCTCCTCCACCACCCTTCAGACCCGGAACCCCCTACCCCTTCTGCATCCTCAAACACCAGAATCACTGTCCCTGTGAGGGCCTGGGTTGAAGGCACGTAGGCCTTCTCCTTGGTCCCCACCACTTCCCTGGGGCTACTAACCCCGCACTCTCAGCTGAGTGAGCCCCCAGTGGGCCTGCCCACCCCAGCCCTACCCAGCCCTGTCCCTCACCGCAGCCTTGTAGATGTCATCCATGCTGGCGGCTCACAGGACAGCTTGCTGGGGTTGCCAGCCGGCCCTTGACTTAAATAGCCCTGCCCCGCTGCATTCCTGGCCCAGCCCAGCCCAGCCCAGCCCACCCCTGCGTGTAGTATCCTCCAGCCCCTCCTCTGGTCCCAGTGATCTCAGGCTGGCCTGAGTCCCCACGTCCTCTGCCCAGGGCAGGGAGCAGACGAACGGCTACAAGGACCAGGTTTCTTTCCCTCCTGTCCCCCA
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Task1_train_7077
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A mutation on Chromosome 3 affecting TNNC1 (troponin C1, slow skeletal and cardiac type) has been found. Is it harmful or harmless? What disease, if any, does it cause?
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Pathogenic; Hypertrophic cardiomyopathy 13
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CGGGGCAAGGTCAGCTGACGGCATTCTGGCTACAGCCTGGGTGCTGCTGGCAGCTGTCCCTCCTGCGAACACCTCTGCTGACACTTCCACTTCCTTGCAGCCCCCAACGCCCACGCCTCCAAGACAGCATCACTGTCTGGCGGCAGCTCTGGACTGGGTGCTCCCACTAAGCTGAGAGCTGCCAGGCCTTGGGCCTCCATCCCTGCCAGGGAGAGAGACTGGGCCACAAGAGATGAGCCTCTGAGGTTCACGGGAACTGGAAATCATGTCCATTTGGATGTGGCCCATCCGACAGGGCCCTTGGCTGGAAGCCAGTTGGCTCTGCTCTCCCCCACACTCACTGGATGACCTTGACAGGTCCCTGCACCTCTCTGGGCCAAACAGGTGAGGGGAGATAGAGCCGACTCCATGCCCCTCTGTCCCTGGGAGTCAATGTTGCTGGCAGGAAATACAAGCAAGTGGGCGGGTGGACTAGCACTGTGAGCCTGCAGGGACCCCACAGGCTCAGCTCCATTCCAGCCACGGCTGAGAGGTAACAGGGGTTGCTGTGCCAGGGAGCATCCAAGGGCCTGGCTGTGTACCACAGTGAACCACTCTCTCCAAGTAGAGGACCCCTAGGCTGCCACAGTGGTTGACCAAAGTGATGGCCCCCAGGAACTTGTGGGGGTTCTAGGCCCCCACAGACTCCAGATGCTGAATCCCTAGAGATGGTGCCTGGGCCTGAGGAGTGATAGAGGGCAGCAAGCAGGGCAGGCCACACGGCAGTCTCCGATCTCATCTCACCCCCCTGCAGAAGGCAGTGTGGAGCGGTGGTCAGGCGCCAGGCTCTGCAGCCAGCCTGCCTAGGACAGGGAAGGAAGCGGCCATTGGGTAAGAGTGGGTCCTGGGGATGAGTCCACGGCCCAGGGACACCAGAGCCAGATAGCAGACCTTGGGAGAGCAGGCTTTATTTGCATCCCCCAGGACAGATCTGGGGAGGGAGTCGGGGGATTTGGGGTTGAGGACATGGCCAGGCTCAGGTCCTGGGACCCCGACCCCCTCCCCAACCCCAGGACTCAGCTGGAGTTGGAGGCTGGGCATAGGCAGCTCTGGGTGAAGGTCAGCATCTACTCCACACCCTTCATGAACTCCAGGAACTCTGTGGAAAGAGGGGCAGGTGTGGGTTGAGGGTAGGGGCTGGGCAGGGCATGGAGGCAGGAGATCAGCCCACCCACCCGCTTACCATCATAGTCGATGCGGCCGTCGTTGTTCTTGTCTCCGTCCTTCATGAGCTCCTCGATGTCGTCCTCCGTGATGGTCTCGCCTGTAGCCTGCAGCATTATCTTCAGCTCATCCAGGTCGATGTAGCCATCAGCATTTCTGTGGGGAGGGGGCTCAGGGTAGGGCTGTGGGGAGGGCATGAGGCAGCCCCACCCATGCCCCAGGAGGCAGAGCAGGGACACTGGGAGATGGGGCATCCCTCTCCCCTATCAGGCAGAGGCCACAGGGTCCCTAGGCCTGGAATCTGAGACTGCCCTCCTGTACAGCTCGGCTTGAGTGTGGGTCAGGGTCAGAGGTCAAGGGTCACGTGCTCACTTGTCAAACATGCGGAAGAGGTCAGACAGCTCCTCCTCAGATTTCCCTTTGCTGTCGTCCTTCATGCACCGAACCATCATGACCAGGAACTCATCAAAGTCCACCGTGCCGCTGCCTGGGGGTGGGCAGCATGGCCGTTACAGAGGCCAGGGTAGGTACTGCAGGCAGCACCTTCGACACGAACCCCCATGTTCTCACCGCATCCTCACACCAAACGCCAGGCTTGTGTAGCCCTTATGCCCATTTTATAGATGAGGCAACCAAGGCTCGGATAGGCTAAATTGCTCCCAGCTAAACAGAGCCAGCATTCCAGCCCCCAGCCAGCTGGGGTTCTTCTGGAGCCTGGGGAGGAGGGGGCTCACCGTCCTCGTCCACCTCATCGATCATCTCCTGCAGCTCCTCAGGGGTGGGGTTCTGGCCCAGCATCCTCATCACCTTGCCCAGCTCCTTGGTGCTGATGCAGCCATCCTCAGCGCCCAGCACGAAGATGTCGAAGGCTGCCTTGAACTCTGTGTTCAGGGGTTGGGGGGCACAGTAGTCAGGGCTCAGCAGCCAGGACCACGGAGGGCCAGAACCCTGGGGCCACCTGCCAACCTGCCCACCTCCCTCGGAGACCTCTCTGAGGGCAGAGCAAGAGGGACCAAGCCTCTGGTCTCTGGCCTGGGGTCCTCTTCTGATAAGGGGTCCCCATGCCAGCCTGGACCCGCTGGTCTCCCACATGTGTGATAGGGATTCTCACCATTTTTCTGCTCTTCTGTCAGCTGCTCTACCTAGAAAGGAAAGGGAATCTCAAGGCTCAGACTCAGGTATAGCTGCTGCTGAGGAAACCAACCCATTCCACAGGTGAGAAGGCTGGAGCTGGAGGAGGCAGGCTATTTCCAGGCCACAGAGTGGAGGTCTCAGTCCTCCCTCCCTGCCCCCAAAGCCCTGACGTGACCCAGCTGGCCTCACTGCGACTGGGCTCAGGGCCAGGGTGACAGGTGGGCACCCCCTTCAGGACCAAGGTGACCCTCAGTAACAATAGTCAGTGACCACTCAATGCCCTTTCGGCCCCTGATGAAACTCAAGCTGGGTGGCCCGAAGGACAGCTGTCCCTCAAGTTGGGATAATAAAACCAGTGTGGAGGCAGGCAAGCCACCCACGGTAACCTGACCAGGGTGGCCACTGGGCTATTTTTAACGAGGAACAAAGTTAAACCTGGTGATTGTTCTGGGGACTTTGGCATGCAGGGGGTGGGGCAGCGTTATCTGGCCCCCTGGCCTGCTAGTGCCGCCTCAGAAGCCAAAATTAGTCCCCAACTCCGCCAGGCCTTGTATGGGCACTGGGTGGAGGGCTGTCCCAACCCCGGCTCCATGGACTCCCACAGGATAAGCAGGCGTGCCCCCAGAGCTGGCTATAGCACTTCCCTGCCCAGGAGTGAGGGAGGCTGAGGGAGGGGTTCCCCTGGGGACAGCTGGCCATGCCAGGATGTCCTTGCTCTGGGGTTGGGGGAGGTCACCACCACCCAGGATAGAATAGCATCTGAAGACCCTCAGTGACCCAGGAGGTTGCAGGGGCTTGGGGTGACCACTCTCCAGCCCTCATTCCCTCGCTCTCACCCCTAGCTAAGCCACTGAGCCCTGAGCCTGCCAGGCATGATGGGAGCTGGGGCCCCAGTTCTCTGTTCCTTCTTCCTTGGTTCTCCCTCATGTCCAGAACTTCCCTGCCTCAAACTTCAAAGCCCCATCTCCAGCCCAGGACTCAGGCTCTACAGACCCCTCCTCTCACACCCTCCACCCTCCAAAGCATCTTCGGCCCGCCAAGGGGCTGGAGTGGGGTGGCAGATTTTGAGCATGTGAGAAGCAGAATGTGAGGGGCAGAAATGGGGGTTGGGGACAGGGAGACAGTAATGGGGACTCAGACAGCTCAGGAGGAAGAGATGAAAAGAGAAAGGCAAAAACGTCCAGAGACAAATGCAGAGACATGTGGCTGAGCGACAGTGCCACAGACCACAGACACTTGGAAACAGAGAGTGAGACACGATGCTGAAAGCTGCAACCTCCTCCACCACCCTTCAGACCCGGAACCCCCTACCCCTTCTGCATCCTCAAACACCAGAATCACTGTCCCTGTGAGGGCCTGGGTTGAAGGCACGTAGGCCTTCTCCTTGGTCCCCACCACTTCCCTGGGGCTACTAACCCCGCACTCTCAGCTGAGTGAGCCCCCAGTGGGCCTGCCCACCCCAGCCCTACCCAGCCCTGTCCCTCACCGCAGCCTTGTAGATGTCATCCATGCTGGCGGCTCACAGGACAGCTTGCTGGGGTTGCCAGCCGGCCCTTGACTTAAATAGCCCTGCCCCGCTGCATTCCTGGCCCAGCCCAGCCCAGCCCAGCCCACCCCTGCGTGTAGTATCCTCCAGCCCCTCCTCTGGTCCCAGTGATCTCAGGCTGGCCTGAGTCCCCACGTCCTCTGCCCAGGGCAGGGAGCAGACGAACGGCTACAAGGACCAGGTTTCTTTCCCTCCTGTCCCCCACACTCCCCA
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CGGGGCAAGGTCAGCTGACGGCATTCTGGCTACAGCCTGGGTGCTGCTGGCAGCTGTCCCTCCTGCGAACACCTCTGCTGACACTTCCACTTCCTTGCAGCCCCCAACGCCCACGCCTCCAAGACAGCATCACTGTCTGGCGGCAGCTCTGGACTGGGTGCTCCCACTAAGCTGAGAGCTGCCAGGCCTTGGGCCTCCATCCCTGCCAGGGAGAGAGACTGGGCCACAAGAGATGAGCCTCTGAGGTTCACGGGAACTGGAAATCATGTCCATTTGGATGTGGCCCATCCGACAGGGCCCTTGGCTGGAAGCCAGTTGGCTCTGCTCTCCCCCACACTCACTGGATGACCTTGACAGGTCCCTGCACCTCTCTGGGCCAAACAGGTGAGGGGAGATAGAGCCGACTCCATGCCCCTCTGTCCCTGGGAGTCAATGTTGCTGGCAGGAAATACAAGCAAGTGGGCGGGTGGACTAGCACTGTGAGCCTGCAGGGACCCCACAGGCTCAGCTCCATTCCAGCCACGGCTGAGAGGTAACAGGGGTTGCTGTGCCAGGGAGCATCCAAGGGCCTGGCTGTGTACCACAGTGAACCACTCTCTCCAAGTAGAGGACCCCTAGGCTGCCACAGTGGTTGACCAAAGTGATGGCCCCCAGGAACTTGTGGGGGTTCTAGGCCCCCACAGACTCCAGATGCTGAATCCCTAGAGATGGTGCCTGGGCCTGAGGAGTGATAGAGGGCAGCAAGCAGGGCAGGCCACACGGCAGTCTCCGATCTCATCTCACCCCCCTGCAGAAGGCAGTGTGGAGCGGTGGTCAGGCGCCAGGCTCTGCAGCCAGCCTGCCTAGGACAGGGAAGGAAGCGGCCATTGGGTAAGAGTGGGTCCTGGGGATGAGTCCACGGCCCAGGGACACCAGAGCCAGATAGCAGACCTTGGGAGAGCAGGCTTTATTTGCATCCCCCAGGACAGATCTGGGGAGGGAGTCGGGGGATTTGGGGTTGAGGACATGGCCAGGCTCAGGTCCTGGGACCCCGACCCCCTCCCCAACCCCAGGACTCAGCTGGAGTTGGAGGCTGGGCATAGGCAGCTCTGGGTGAAGGTCAGCATCTACTCCACACCCTTCATGAACTCCAGGAACTCTGTGGAAAGAGGGGCAGGTGTGGGTTGAGGGTAGGGGCTGGGCAGGGCATGGAGGCAGGAGATCAGCCCACCCACCCGCTTACCATCATAGTCGATGCGGCCGTCGTTGTTCTTGTCTCCGTCCTTCATGAGCTCCTCGATGTCGTCCTCCGTGATGGTCTCGCCTGTAGCCTGCAGCATTATCTTCAGCTCATCCAGGTCGATGTAGCCATCAGCATTTCTGTGGGGAGGGGGCTCAGGGTAGGGCTGTGGGGAGGGCATGAGGCAGCCCCACCCATGCCCCAGGAGGCAGAGCAGGGACACTGGGAGATGGGGCATCCCTCTCCCCTATCAGGCAGAGGCCACAGGGTCCCTAGGCCTGGAATCTGAGACTGCCCTCCTGTACAGCTCGGCTTGAGTGTGGGTCAGGGTCAGAGGTCAAGGGTCACGTGCTCACTTGTCAAACATGCGGAAGAGGTCAGACAGCTCCTCCTCAGATTTCCCTTTGCTGTCGTCCTTCATGCACCGAACCATCATGACCAGGAACTCATCAAAGTCCACCGTGCCGCTGCCTGGGGGTGGGCAGCATGGCCGTTACAGAGGCCAGGGTAGGTACTGCAGGCAGCACCTTCGACACGAACCCCCATGTTCTCACCGCATCCTCACACCAAACGCCAGGCTTGTGTAGCCCTTATGCCCATTTTATAGATGAGGCAACCAAGGCTCGGATAGGCTAAATTGCTCCCAGCTAAACAGAGCCAGCATTCCAGCCCCCAGCCAGCTGGGGTTCTTCTGGAGCCTGGGGAGGAGGGGGCTCACCGTCCTCGTCCACCTCATCGATCATCTCCTGCAGCTCCTCAGGGGTGGGGTTCTGGCCCAGCATCCTCATCACCTTGCCCAGCTCCTTGGTGCTGATGCAGCCATCCTCAGAGCCCAGCACGAAGATGTCGAAGGCTGCCTTGAACTCTGTGTTCAGGGGTTGGGGGGCACAGTAGTCAGGGCTCAGCAGCCAGGACCACGGAGGGCCAGAACCCTGGGGCCACCTGCCAACCTGCCCACCTCCCTCGGAGACCTCTCTGAGGGCAGAGCAAGAGGGACCAAGCCTCTGGTCTCTGGCCTGGGGTCCTCTTCTGATAAGGGGTCCCCATGCCAGCCTGGACCCGCTGGTCTCCCACATGTGTGATAGGGATTCTCACCATTTTTCTGCTCTTCTGTCAGCTGCTCTACCTAGAAAGGAAAGGGAATCTCAAGGCTCAGACTCAGGTATAGCTGCTGCTGAGGAAACCAACCCATTCCACAGGTGAGAAGGCTGGAGCTGGAGGAGGCAGGCTATTTCCAGGCCACAGAGTGGAGGTCTCAGTCCTCCCTCCCTGCCCCCAAAGCCCTGACGTGACCCAGCTGGCCTCACTGCGACTGGGCTCAGGGCCAGGGTGACAGGTGGGCACCCCCTTCAGGACCAAGGTGACCCTCAGTAACAATAGTCAGTGACCACTCAATGCCCTTTCGGCCCCTGATGAAACTCAAGCTGGGTGGCCCGAAGGACAGCTGTCCCTCAAGTTGGGATAATAAAACCAGTGTGGAGGCAGGCAAGCCACCCACGGTAACCTGACCAGGGTGGCCACTGGGCTATTTTTAACGAGGAACAAAGTTAAACCTGGTGATTGTTCTGGGGACTTTGGCATGCAGGGGGTGGGGCAGCGTTATCTGGCCCCCTGGCCTGCTAGTGCCGCCTCAGAAGCCAAAATTAGTCCCCAACTCCGCCAGGCCTTGTATGGGCACTGGGTGGAGGGCTGTCCCAACCCCGGCTCCATGGACTCCCACAGGATAAGCAGGCGTGCCCCCAGAGCTGGCTATAGCACTTCCCTGCCCAGGAGTGAGGGAGGCTGAGGGAGGGGTTCCCCTGGGGACAGCTGGCCATGCCAGGATGTCCTTGCTCTGGGGTTGGGGGAGGTCACCACCACCCAGGATAGAATAGCATCTGAAGACCCTCAGTGACCCAGGAGGTTGCAGGGGCTTGGGGTGACCACTCTCCAGCCCTCATTCCCTCGCTCTCACCCCTAGCTAAGCCACTGAGCCCTGAGCCTGCCAGGCATGATGGGAGCTGGGGCCCCAGTTCTCTGTTCCTTCTTCCTTGGTTCTCCCTCATGTCCAGAACTTCCCTGCCTCAAACTTCAAAGCCCCATCTCCAGCCCAGGACTCAGGCTCTACAGACCCCTCCTCTCACACCCTCCACCCTCCAAAGCATCTTCGGCCCGCCAAGGGGCTGGAGTGGGGTGGCAGATTTTGAGCATGTGAGAAGCAGAATGTGAGGGGCAGAAATGGGGGTTGGGGACAGGGAGACAGTAATGGGGACTCAGACAGCTCAGGAGGAAGAGATGAAAAGAGAAAGGCAAAAACGTCCAGAGACAAATGCAGAGACATGTGGCTGAGCGACAGTGCCACAGACCACAGACACTTGGAAACAGAGAGTGAGACACGATGCTGAAAGCTGCAACCTCCTCCACCACCCTTCAGACCCGGAACCCCCTACCCCTTCTGCATCCTCAAACACCAGAATCACTGTCCCTGTGAGGGCCTGGGTTGAAGGCACGTAGGCCTTCTCCTTGGTCCCCACCACTTCCCTGGGGCTACTAACCCCGCACTCTCAGCTGAGTGAGCCCCCAGTGGGCCTGCCCACCCCAGCCCTACCCAGCCCTGTCCCTCACCGCAGCCTTGTAGATGTCATCCATGCTGGCGGCTCACAGGACAGCTTGCTGGGGTTGCCAGCCGGCCCTTGACTTAAATAGCCCTGCCCCGCTGCATTCCTGGCCCAGCCCAGCCCAGCCCAGCCCACCCCTGCGTGTAGTATCCTCCAGCCCCTCCTCTGGTCCCAGTGATCTCAGGCTGGCCTGAGTCCCCACGTCCTCTGCCCAGGGCAGGGAGCAGACGAACGGCTACAAGGACCAGGTTTCTTTCCCTCCTGTCCCCCACACTCCCCA
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Task1_train_7078
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Given this variant in gene TNNC1 (troponin C1, slow skeletal and cardiac type) on Chromosome 3, classify it as benign or pathogenic. Include the disorder it may cause if applicable.
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Pathogenic; Dilated cardiomyopathy 1Z
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CGGGGCAAGGTCAGCTGACGGCATTCTGGCTACAGCCTGGGTGCTGCTGGCAGCTGTCCCTCCTGCGAACACCTCTGCTGACACTTCCACTTCCTTGCAGCCCCCAACGCCCACGCCTCCAAGACAGCATCACTGTCTGGCGGCAGCTCTGGACTGGGTGCTCCCACTAAGCTGAGAGCTGCCAGGCCTTGGGCCTCCATCCCTGCCAGGGAGAGAGACTGGGCCACAAGAGATGAGCCTCTGAGGTTCACGGGAACTGGAAATCATGTCCATTTGGATGTGGCCCATCCGACAGGGCCCTTGGCTGGAAGCCAGTTGGCTCTGCTCTCCCCCACACTCACTGGATGACCTTGACAGGTCCCTGCACCTCTCTGGGCCAAACAGGTGAGGGGAGATAGAGCCGACTCCATGCCCCTCTGTCCCTGGGAGTCAATGTTGCTGGCAGGAAATACAAGCAAGTGGGCGGGTGGACTAGCACTGTGAGCCTGCAGGGACCCCACAGGCTCAGCTCCATTCCAGCCACGGCTGAGAGGTAACAGGGGTTGCTGTGCCAGGGAGCATCCAAGGGCCTGGCTGTGTACCACAGTGAACCACTCTCTCCAAGTAGAGGACCCCTAGGCTGCCACAGTGGTTGACCAAAGTGATGGCCCCCAGGAACTTGTGGGGGTTCTAGGCCCCCACAGACTCCAGATGCTGAATCCCTAGAGATGGTGCCTGGGCCTGAGGAGTGATAGAGGGCAGCAAGCAGGGCAGGCCACACGGCAGTCTCCGATCTCATCTCACCCCCCTGCAGAAGGCAGTGTGGAGCGGTGGTCAGGCGCCAGGCTCTGCAGCCAGCCTGCCTAGGACAGGGAAGGAAGCGGCCATTGGGTAAGAGTGGGTCCTGGGGATGAGTCCACGGCCCAGGGACACCAGAGCCAGATAGCAGACCTTGGGAGAGCAGGCTTTATTTGCATCCCCCAGGACAGATCTGGGGAGGGAGTCGGGGGATTTGGGGTTGAGGACATGGCCAGGCTCAGGTCCTGGGACCCCGACCCCCTCCCCAACCCCAGGACTCAGCTGGAGTTGGAGGCTGGGCATAGGCAGCTCTGGGTGAAGGTCAGCATCTACTCCACACCCTTCATGAACTCCAGGAACTCTGTGGAAAGAGGGGCAGGTGTGGGTTGAGGGTAGGGGCTGGGCAGGGCATGGAGGCAGGAGATCAGCCCACCCACCCGCTTACCATCATAGTCGATGCGGCCGTCGTTGTTCTTGTCTCCGTCCTTCATGAGCTCCTCGATGTCGTCCTCCGTGATGGTCTCGCCTGTAGCCTGCAGCATTATCTTCAGCTCATCCAGGTCGATGTAGCCATCAGCATTTCTGTGGGGAGGGGGCTCAGGGTAGGGCTGTGGGGAGGGCATGAGGCAGCCCCACCCATGCCCCAGGAGGCAGAGCAGGGACACTGGGAGATGGGGCATCCCTCTCCCCTATCAGGCAGAGGCCACAGGGTCCCTAGGCCTGGAATCTGAGACTGCCCTCCTGTACAGCTCGGCTTGAGTGTGGGTCAGGGTCAGAGGTCAAGGGTCACGTGCTCACTTGTCAAACATGCGGAAGAGGTCAGACAGCTCCTCCTCAGATTTCCCTTTGCTGTCGTCCTTCATGCACCGAACCATCATGACCAGGAACTCATCAAAGTCCACCGTGCCGCTGCCTGGGGGTGGGCAGCATGGCCGTTACAGAGGCCAGGGTAGGTACTGCAGGCAGCACCTTCGACACGAACCCCCATGTTCTCACCGCATCCTCACACCAAACGCCAGGCTTGTGTAGCCCTTATGCCCATTTTATAGATGAGGCAACCAAGGCTCGGATAGGCTAAATTGCTCCCAGCTAAACAGAGCCAGCATTCCAGCCCCCAGCCAGCTGGGGTTCTTCTGGAGCCTGGGGAGGAGGGGGCTCACCGTCCTCGTCCACCTCATCGATCATCTCCTGCAGCTCCTCAGGGGTGGGGTTCTGGCCCAGCATCCTCATCACCTTGCCCAGCTCCTTGGTGCTGATGCAGCCATCCTCAGCGCCCAGCACGAAGATGTCGAAGGCTGCCTTGAACTCTGTGTTCAGGGGTTGGGGGGCACAGTAGTCAGGGCTCAGCAGCCAGGACCACGGAGGGCCAGAACCCTGGGGCCACCTGCCAACCTGCCCACCTCCCTCGGAGACCTCTCTGAGGGCAGAGCAAGAGGGACCAAGCCTCTGGTCTCTGGCCTGGGGTCCTCTTCTGATAAGGGGTCCCCATGCCAGCCTGGACCCGCTGGTCTCCCACATGTGTGATAGGGATTCTCACCATTTTTCTGCTCTTCTGTCAGCTGCTCTACCTAGAAAGGAAAGGGAATCTCAAGGCTCAGACTCAGGTATAGCTGCTGCTGAGGAAACCAACCCATTCCACAGGTGAGAAGGCTGGAGCTGGAGGAGGCAGGCTATTTCCAGGCCACAGAGTGGAGGTCTCAGTCCTCCCTCCCTGCCCCCAAAGCCCTGACGTGACCCAGCTGGCCTCACTGCGACTGGGCTCAGGGCCAGGGTGACAGGTGGGCACCCCCTTCAGGACCAAGGTGACCCTCAGTAACAATAGTCAGTGACCACTCAATGCCCTTTCGGCCCCTGATGAAACTCAAGCTGGGTGGCCCGAAGGACAGCTGTCCCTCAAGTTGGGATAATAAAACCAGTGTGGAGGCAGGCAAGCCACCCACGGTAACCTGACCAGGGTGGCCACTGGGCTATTTTTAACGAGGAACAAAGTTAAACCTGGTGATTGTTCTGGGGACTTTGGCATGCAGGGGGTGGGGCAGCGTTATCTGGCCCCCTGGCCTGCTAGTGCCGCCTCAGAAGCCAAAATTAGTCCCCAACTCCGCCAGGCCTTGTATGGGCACTGGGTGGAGGGCTGTCCCAACCCCGGCTCCATGGACTCCCACAGGATAAGCAGGCGTGCCCCCAGAGCTGGCTATAGCACTTCCCTGCCCAGGAGTGAGGGAGGCTGAGGGAGGGGTTCCCCTGGGGACAGCTGGCCATGCCAGGATGTCCTTGCTCTGGGGTTGGGGGAGGTCACCACCACCCAGGATAGAATAGCATCTGAAGACCCTCAGTGACCCAGGAGGTTGCAGGGGCTTGGGGTGACCACTCTCCAGCCCTCATTCCCTCGCTCTCACCCCTAGCTAAGCCACTGAGCCCTGAGCCTGCCAGGCATGATGGGAGCTGGGGCCCCAGTTCTCTGTTCCTTCTTCCTTGGTTCTCCCTCATGTCCAGAACTTCCCTGCCTCAAACTTCAAAGCCCCATCTCCAGCCCAGGACTCAGGCTCTACAGACCCCTCCTCTCACACCCTCCACCCTCCAAAGCATCTTCGGCCCGCCAAGGGGCTGGAGTGGGGTGGCAGATTTTGAGCATGTGAGAAGCAGAATGTGAGGGGCAGAAATGGGGGTTGGGGACAGGGAGACAGTAATGGGGACTCAGACAGCTCAGGAGGAAGAGATGAAAAGAGAAAGGCAAAAACGTCCAGAGACAAATGCAGAGACATGTGGCTGAGCGACAGTGCCACAGACCACAGACACTTGGAAACAGAGAGTGAGACACGATGCTGAAAGCTGCAACCTCCTCCACCACCCTTCAGACCCGGAACCCCCTACCCCTTCTGCATCCTCAAACACCAGAATCACTGTCCCTGTGAGGGCCTGGGTTGAAGGCACGTAGGCCTTCTCCTTGGTCCCCACCACTTCCCTGGGGCTACTAACCCCGCACTCTCAGCTGAGTGAGCCCCCAGTGGGCCTGCCCACCCCAGCCCTACCCAGCCCTGTCCCTCACCGCAGCCTTGTAGATGTCATCCATGCTGGCGGCTCACAGGACAGCTTGCTGGGGTTGCCAGCCGGCCCTTGACTTAAATAGCCCTGCCCCGCTGCATTCCTGGCCCAGCCCAGCCCAGCCCAGCCCACCCCTGCGTGTAGTATCCTCCAGCCCCTCCTCTGGTCCCAGTGATCTCAGGCTGGCCTGAGTCCCCACGTCCTCTGCCCAGGGCAGGGAGCAGACGAACGGCTACAAGGACCAGGTTTCTTTCCCTCCTGTCCCCCACACTCCCCA
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CGGGGCAAGGTCAGCTGACGGCATTCTGGCTACAGCCTGGGTGCTGCTGGCAGCTGTCCCTCCTGCGAACACCTCTGCTGACACTTCCACTTCCTTGCAGCCCCCAACGCCCACGCCTCCAAGACAGCATCACTGTCTGGCGGCAGCTCTGGACTGGGTGCTCCCACTAAGCTGAGAGCTGCCAGGCCTTGGGCCTCCATCCCTGCCAGGGAGAGAGACTGGGCCACAAGAGATGAGCCTCTGAGGTTCACGGGAACTGGAAATCATGTCCATTTGGATGTGGCCCATCCGACAGGGCCCTTGGCTGGAAGCCAGTTGGCTCTGCTCTCCCCCACACTCACTGGATGACCTTGACAGGTCCCTGCACCTCTCTGGGCCAAACAGGTGAGGGGAGATAGAGCCGACTCCATGCCCCTCTGTCCCTGGGAGTCAATGTTGCTGGCAGGAAATACAAGCAAGTGGGCGGGTGGACTAGCACTGTGAGCCTGCAGGGACCCCACAGGCTCAGCTCCATTCCAGCCACGGCTGAGAGGTAACAGGGGTTGCTGTGCCAGGGAGCATCCAAGGGCCTGGCTGTGTACCACAGTGAACCACTCTCTCCAAGTAGAGGACCCCTAGGCTGCCACAGTGGTTGACCAAAGTGATGGCCCCCAGGAACTTGTGGGGGTTCTAGGCCCCCACAGACTCCAGATGCTGAATCCCTAGAGATGGTGCCTGGGCCTGAGGAGTGATAGAGGGCAGCAAGCAGGGCAGGCCACACGGCAGTCTCCGATCTCATCTCACCCCCCTGCAGAAGGCAGTGTGGAGCGGTGGTCAGGCGCCAGGCTCTGCAGCCAGCCTGCCTAGGACAGGGAAGGAAGCGGCCATTGGGTAAGAGTGGGTCCTGGGGATGAGTCCACGGCCCAGGGACACCAGAGCCAGATAGCAGACCTTGGGAGAGCAGGCTTTATTTGCATCCCCCAGGACAGATCTGGGGAGGGAGTCGGGGGATTTGGGGTTGAGGACATGGCCAGGCTCAGGTCCTGGGACCCCGACCCCCTCCCCAACCCCAGGACTCAGCTGGAGTTGGAGGCTGGGCATAGGCAGCTCTGGGTGAAGGTCAGCATCTACTCCACACCCTTCATGAACTCCAGGAACTCTGTGGAAAGAGGGGCAGGTGTGGGTTGAGGGTAGGGGCTGGGCAGGGCATGGAGGCAGGAGATCAGCCCACCCACCCGCTTACCATCATAGTCGATGCGGCCGTCGTTGTTCTTGTCTCCGTCCTTCATGAGCTCCTCGATGTCGTCCTCCGTGATGGTCTCGCCTGTAGCCTGCAGCATTATCTTCAGCTCATCCAGGTCGATGTAGCCATCAGCATTTCTGTGGGGAGGGGGCTCAGGGTAGGGCTGTGGGGAGGGCATGAGGCAGCCCCACCCATGCCCCAGGAGGCAGAGCAGGGACACTGGGAGATGGGGCATCCCTCTCCCCTATCAGGCAGAGGCCACAGGGTCCCTAGGCCTGGAATCTGAGACTGCCCTCCTGTACAGCTCGGCTTGAGTGTGGGTCAGGGTCAGAGGTCAAGGGTCACGTGCTCACTTGTCAAACATGCGGAAGAGGTCAGACAGCTCCTCCTCAGATTTCCCTTTGCTGTCGTCCTTCATGCACCGAACCATCATGACCAGGAACTCATCAAAGTCCACCGTGCCGCTGCCTGGGGGTGGGCAGCATGGCCGTTACAGAGGCCAGGGTAGGTACTGCAGGCAGCACCTTCGACACGAACCCCCATGTTCTCACCGCATCCTCACACCAAACGCCAGGCTTGTGTAGCCCTTATGCCCATTTTATAGATGAGGCAACCAAGGCTCGGATAGGCTAAATTGCTCCCAGCTAAACAGAGCCAGCATTCCAGCCCCCAGCCAGCTGGGGTTCTTCTGGAGCCTGGGGAGGAGGGGGCTCACCGTCCTCGTCCACCTCATCGATCATCTCCTGCAGCTCCTCAGGGGTGGGGTTCTGGCCCAGCATCCTCATCACCTTGCCCAGCTCCTTGGTGCTGATGCAGCCATCCTCAGAGCCCAGCACGAAGATGTCGAAGGCTGCCTTGAACTCTGTGTTCAGGGGTTGGGGGGCACAGTAGTCAGGGCTCAGCAGCCAGGACCACGGAGGGCCAGAACCCTGGGGCCACCTGCCAACCTGCCCACCTCCCTCGGAGACCTCTCTGAGGGCAGAGCAAGAGGGACCAAGCCTCTGGTCTCTGGCCTGGGGTCCTCTTCTGATAAGGGGTCCCCATGCCAGCCTGGACCCGCTGGTCTCCCACATGTGTGATAGGGATTCTCACCATTTTTCTGCTCTTCTGTCAGCTGCTCTACCTAGAAAGGAAAGGGAATCTCAAGGCTCAGACTCAGGTATAGCTGCTGCTGAGGAAACCAACCCATTCCACAGGTGAGAAGGCTGGAGCTGGAGGAGGCAGGCTATTTCCAGGCCACAGAGTGGAGGTCTCAGTCCTCCCTCCCTGCCCCCAAAGCCCTGACGTGACCCAGCTGGCCTCACTGCGACTGGGCTCAGGGCCAGGGTGACAGGTGGGCACCCCCTTCAGGACCAAGGTGACCCTCAGTAACAATAGTCAGTGACCACTCAATGCCCTTTCGGCCCCTGATGAAACTCAAGCTGGGTGGCCCGAAGGACAGCTGTCCCTCAAGTTGGGATAATAAAACCAGTGTGGAGGCAGGCAAGCCACCCACGGTAACCTGACCAGGGTGGCCACTGGGCTATTTTTAACGAGGAACAAAGTTAAACCTGGTGATTGTTCTGGGGACTTTGGCATGCAGGGGGTGGGGCAGCGTTATCTGGCCCCCTGGCCTGCTAGTGCCGCCTCAGAAGCCAAAATTAGTCCCCAACTCCGCCAGGCCTTGTATGGGCACTGGGTGGAGGGCTGTCCCAACCCCGGCTCCATGGACTCCCACAGGATAAGCAGGCGTGCCCCCAGAGCTGGCTATAGCACTTCCCTGCCCAGGAGTGAGGGAGGCTGAGGGAGGGGTTCCCCTGGGGACAGCTGGCCATGCCAGGATGTCCTTGCTCTGGGGTTGGGGGAGGTCACCACCACCCAGGATAGAATAGCATCTGAAGACCCTCAGTGACCCAGGAGGTTGCAGGGGCTTGGGGTGACCACTCTCCAGCCCTCATTCCCTCGCTCTCACCCCTAGCTAAGCCACTGAGCCCTGAGCCTGCCAGGCATGATGGGAGCTGGGGCCCCAGTTCTCTGTTCCTTCTTCCTTGGTTCTCCCTCATGTCCAGAACTTCCCTGCCTCAAACTTCAAAGCCCCATCTCCAGCCCAGGACTCAGGCTCTACAGACCCCTCCTCTCACACCCTCCACCCTCCAAAGCATCTTCGGCCCGCCAAGGGGCTGGAGTGGGGTGGCAGATTTTGAGCATGTGAGAAGCAGAATGTGAGGGGCAGAAATGGGGGTTGGGGACAGGGAGACAGTAATGGGGACTCAGACAGCTCAGGAGGAAGAGATGAAAAGAGAAAGGCAAAAACGTCCAGAGACAAATGCAGAGACATGTGGCTGAGCGACAGTGCCACAGACCACAGACACTTGGAAACAGAGAGTGAGACACGATGCTGAAAGCTGCAACCTCCTCCACCACCCTTCAGACCCGGAACCCCCTACCCCTTCTGCATCCTCAAACACCAGAATCACTGTCCCTGTGAGGGCCTGGGTTGAAGGCACGTAGGCCTTCTCCTTGGTCCCCACCACTTCCCTGGGGCTACTAACCCCGCACTCTCAGCTGAGTGAGCCCCCAGTGGGCCTGCCCACCCCAGCCCTACCCAGCCCTGTCCCTCACCGCAGCCTTGTAGATGTCATCCATGCTGGCGGCTCACAGGACAGCTTGCTGGGGTTGCCAGCCGGCCCTTGACTTAAATAGCCCTGCCCCGCTGCATTCCTGGCCCAGCCCAGCCCAGCCCAGCCCACCCCTGCGTGTAGTATCCTCCAGCCCCTCCTCTGGTCCCAGTGATCTCAGGCTGGCCTGAGTCCCCACGTCCTCTGCCCAGGGCAGGGAGCAGACGAACGGCTACAAGGACCAGGTTTCTTTCCCTCCTGTCCCCCACACTCCCCA
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Task1_train_7079
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Consider a variant on Chromosome 3 in gene TNNC1 (troponin C1, slow skeletal and cardiac type). Determine its clinical classification and disease relevance.
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Pathogenic; Dilated cardiomyopathy 1Z
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AAACGCCAGGCTTGTGTAGCCCTTATGCCCATTTTATAGATGAGGCAACCAAGGCTCGGATAGGCTAAATTGCTCCCAGCTAAACAGAGCCAGCATTCCAGCCCCCAGCCAGCTGGGGTTCTTCTGGAGCCTGGGGAGGAGGGGGCTCACCGTCCTCGTCCACCTCATCGATCATCTCCTGCAGCTCCTCAGGGGTGGGGTTCTGGCCCAGCATCCTCATCACCTTGCCCAGCTCCTTGGTGCTGATGCAGCCATCCTCAGCGCCCAGCACGAAGATGTCGAAGGCTGCCTTGAACTCTGTGTTCAGGGGTTGGGGGGCACAGTAGTCAGGGCTCAGCAGCCAGGACCACGGAGGGCCAGAACCCTGGGGCCACCTGCCAACCTGCCCACCTCCCTCGGAGACCTCTCTGAGGGCAGAGCAAGAGGGACCAAGCCTCTGGTCTCTGGCCTGGGGTCCTCTTCTGATAAGGGGTCCCCATGCCAGCCTGGACCCGCTGGTCTCCCACATGTGTGATAGGGATTCTCACCATTTTTCTGCTCTTCTGTCAGCTGCTCTACCTAGAAAGGAAAGGGAATCTCAAGGCTCAGACTCAGGTATAGCTGCTGCTGAGGAAACCAACCCATTCCACAGGTGAGAAGGCTGGAGCTGGAGGAGGCAGGCTATTTCCAGGCCACAGAGTGGAGGTCTCAGTCCTCCCTCCCTGCCCCCAAAGCCCTGACGTGACCCAGCTGGCCTCACTGCGACTGGGCTCAGGGCCAGGGTGACAGGTGGGCACCCCCTTCAGGACCAAGGTGACCCTCAGTAACAATAGTCAGTGACCACTCAATGCCCTTTCGGCCCCTGATGAAACTCAAGCTGGGTGGCCCGAAGGACAGCTGTCCCTCAAGTTGGGATAATAAAACCAGTGTGGAGGCAGGCAAGCCACCCACGGTAACCTGACCAGGGTGGCCACTGGGCTATTTTTAACGAGGAACAAAGTTAAACCTGGTGATTGTTCTGGGGACTTTGGCATGCAGGGGGTGGGGCAGCGTTATCTGGCCCCCTGGCCTGCTAGTGCCGCCTCAGAAGCCAAAATTAGTCCCCAACTCCGCCAGGCCTTGTATGGGCACTGGGTGGAGGGCTGTCCCAACCCCGGCTCCATGGACTCCCACAGGATAAGCAGGCGTGCCCCCAGAGCTGGCTATAGCACTTCCCTGCCCAGGAGTGAGGGAGGCTGAGGGAGGGGTTCCCCTGGGGACAGCTGGCCATGCCAGGATGTCCTTGCTCTGGGGTTGGGGGAGGTCACCACCACCCAGGATAGAATAGCATCTGAAGACCCTCAGTGACCCAGGAGGTTGCAGGGGCTTGGGGTGACCACTCTCCAGCCCTCATTCCCTCGCTCTCACCCCTAGCTAAGCCACTGAGCCCTGAGCCTGCCAGGCATGATGGGAGCTGGGGCCCCAGTTCTCTGTTCCTTCTTCCTTGGTTCTCCCTCATGTCCAGAACTTCCCTGCCTCAAACTTCAAAGCCCCATCTCCAGCCCAGGACTCAGGCTCTACAGACCCCTCCTCTCACACCCTCCACCCTCCAAAGCATCTTCGGCCCGCCAAGGGGCTGGAGTGGGGTGGCAGATTTTGAGCATGTGAGAAGCAGAATGTGAGGGGCAGAAATGGGGGTTGGGGACAGGGAGACAGTAATGGGGACTCAGACAGCTCAGGAGGAAGAGATGAAAAGAGAAAGGCAAAAACGTCCAGAGACAAATGCAGAGACATGTGGCTGAGCGACAGTGCCACAGACCACAGACACTTGGAAACAGAGAGTGAGACACGATGCTGAAAGCTGCAACCTCCTCCACCACCCTTCAGACCCGGAACCCCCTACCCCTTCTGCATCCTCAAACACCAGAATCACTGTCCCTGTGAGGGCCTGGGTTGAAGGCACGTAGGCCTTCTCCTTGGTCCCCACCACTTCCCTGGGGCTACTAACCCCGCACTCTCAGCTGAGTGAGCCCCCAGTGGGCCTGCCCACCCCAGCCCTACCCAGCCCTGTCCCTCACCGCAGCCTTGTAGATGTCATCCATGCTGGCGGCTCACAGGACAGCTTGCTGGGGTTGCCAGCCGGCCCTTGACTTAAATAGCCCTGCCCCGCTGCATTCCTGGCCCAGCCCAGCCCAGCCCAGCCCACCCCTGCGTGTAGTATCCTCCAGCCCCTCCTCTGGTCCCAGTGATCTCAGGCTGGCCTGAGTCCCCACGTCCTCTGCCCAGGGCAGGGAGCAGACGAACGGCTACAAGGACCAGGTTTCTTTCCCTCCTGTCCCCCACACTCCCCAAAGGGACTCTCTGAAAAGGTTTCTGGAATGAATGAAAACATAAGCCCAGTGCAGGACAGGAGCTACAAAGTCGTGGGCCCCAGGCAAGGTGCAACACAACAGCTCAGGCTCCCATCCAACCAGGTTGGCGGGTTGCCATGACCTCCACTTTCCAGATAAGGAAACTGAGGCTCTGGAGGAGTGGTGACTTGCCCAAGATCTGACTGACTTGGTAACCCCCGCCTTTAACTAAACCTCTCTGGAATGGGGGTGCAATGTGCAAGGAGAGGCTAGGAGTGCAGGGCCCTGCCAAGAGAAGCCTCGAATGCCAAGCTCATAGTAAGATGCTGTGGAACTGGTGAAGGAGGAAGTGACTGACCCACCTTAGGACAGGGTGGCCAGGAGCCCTTCTGCCAGAGGAGCCTGTCCCAGACCTCCCATCTGCCCAGGGAGAAGTACCCACTTCGGGCTTAAGTCAGCTGCTCTCAGTTATTCAACAGCACCCCTATAGATGCCCCATCTGTGGCAGGCTCTTTCCCTCCTCACCCTCCAATTAGGTTACCACCTCCCTCTTCTAGGTCTCATCTTTCCCCGGTTTAGGATTCAGCACTGTAGTTCCTGGGTCCAGATCAACCTGTCTCCCTCGTTTTGAACTTTGGCAGGCCACCCCGTGGGGTTCTTGTGCTCAGTGGCAGCACACACCCCTCCATCCACCTACACCTTCCTTCGTACAGAGTTCGTATCAAGTTTATCCCTCTTGATAAACACGCTCCCTGCCTCGAGCACTACTGCGTGCTGGGCCGCGCATCAATCAACCCACTCAGTTGTCCAGAAGCCCCACTGACAAGAGATCTCCGAATCTCAGAGAGGTTCAGAACTGGCCCAGAATCACTCTCGCCCTGCTCCGGCGGTAAGCACAGGTCCTATTTTCCCCTCCAACCTGCCTTGCCCTAAAGAGAAAGAGCCCAACAGCCAGGTGAGGCACTATTATGGCCTCCTTTATCAGGAGGAGTAAACTGAGGCCAGGAAGAGCAGTGACTTGCTTCGTGTGGCCTGGGAGACTCGGGACCTTCTGTCCCCTCTTCCCGAGGACCCAGGGGCGATGCCCAGAGCTGTCACCACCCGGGGTCTCAGTTTCTAGCAGGCTGTGCAGGGTACCGCCGGCGGCGCCACGCAGGTAGATTACGCAAGCGAGCACCTCGCACGCGCGCCCTGAGTGGCCCCTGTCAGTCACGCGCGGGGGCGGGGCGAGGGCGCAGGAAGAAGGCGGGGCCAAGATGGCGGCGCAGCGCGCGGCGGGGGCGACGGGCGGCGGGGGCCGGGGGGCGGTGGGACGTTGACCCCGCCCCCTGCTGCTGCTAGTCTGCGCCGGGCGGCGGTGGCGGCGGAGACCCGAACATGGCGACCGCGCGCACCTTCGGGCCCGAGCGGGAAGCCGAGCCGGCCAAGGAAGCGCGCGTCGTGGGCTCGGAGCTTGTGGACACTTATACGGTGTGTTGGGGGCGCGGGCACCCGAAGCGGGGGTGGTGGCTGGAACCGGGAGTCCGACTCGGGGGCTTGGGGAGGGGTCCGGGATCTGCAGCCCCGAGGAGCGGGTAGAAGGGTCTGCGATTGCGAGGAGGGGGCTGGGACGGGGGATCTAGGAAAGGGATCTGGGCCCCGCAGGTCCGGGAGAAGGGTTGCTCGGGGCCCGGGGAGGCGGTTTGGAAAAGGGTACGCGATCAGAAAGGGAGGCTCGGGTTGGGGGCGGCATCTGGGGATAAAGGGGGCTTGGGGAGGGGGGTGTCTAGATGAGGCGGAACCCCTCT
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AAACGCCAGGCTTGTGTAGCCCTTATGCCCATTTTATAGATGAGGCAACCAAGGCTCGGATAGGCTAAATTGCTCCCAGCTAAACAGAGCCAGCATTCCAGCCCCCAGCCAGCTGGGGTTCTTCTGGAGCCTGGGGAGGAGGGGGCTCACCGTCCTCGTCCACCTCATCGATCATCTCCTGCAGCTCCTCAGGGGTGGGGTTCTGGCCCAGCATCCTCATCACCTTGCCCAGCTCCTTGGTGCTGATGCAGCCATCCTCAGCGCCCAGCACGAAGATGTCGAAGGCTGCCTTGAACTCTGTGTTCAGGGGTTGGGGGGCACAGTAGTCAGGGCTCAGCAGCCAGGACCACGGAGGGCCAGAACCCTGGGGCCACCTGCCAACCTGCCCACCTCCCTCGGAGACCTCTCTGAGGGCAGAGCAAGAGGGACCAAGCCTCTGGTCTCTGGCCTGGGGTCCTCTTCTGATAAGGGGTCCCCATGCCAGCCTGGACCCGCTGGTCTCCCACATGTGTGATAGGGATTCTCACCATTTTTCTGCTCTTCTGTCAGCTGCTCTACCTAGAAAGGAAAGGGAATCTCAAGGCTCAGACTCAGGTATAGCTGCTGCTGAGGAAACCAACCCATTCCACAGGTGAGAAGGCTGGAGCTGGAGGAGGCAGGCTATTTCCAGGCCACAGAGTGGAGGTCTCAGTCCTCCCTCCCTGCCCCCAAAGCCCTGACGTGACCCAGCTGGCCTCACTGCGACTGGGCTCAGGGCCAGGGTGACAGGTGGGCACCCCCTTCAGGACCAAGGTGACCCTCAGTAACAATAGTCAGTGACCACTCAATGCCCTTTCGGCCCCTGATGAAACTCAAGCTGGGTGGCCCGAAGGACAGCTGTCCCTCAAGTTGGGATAATAAAACCAGTGTGGAGGCAGGCAAGCCACCCACGGTAACCTGACCAGGGTGGCCACTGGGCTATTTTTAACGAGGAACAAAGTTAAACCTGGTGATTGTTCTGGGGACTTTGGCATGCAGGGGGTGGGGCAGCGTTATCTGGCCCCCTGGCCTGCTAGTGCCGCCTCAGAAGCCAAAATTAGTCCCCAACTCCGCCAGGCCTTGTATGGGCACTGGGTGGAGGGCTGTCCCAACCCCGGCTCCATGGACTCCCACAGGATAAGCAGGCGTGCCCCCAGAGCTGGCTATAGCACTTCCCTGCCCAGGAGTGAGGGAGGCTGAGGGAGGGGTTCCCCTGGGGACAGCTGGCCATGCCAGGATGTCCTTGCTCTGGGGTTGGGGGAGGTCACCACCACCCAGGATAGAATAGCATCTGAAGACCCTCAGTGACCCAGGAGGTTGCAGGGGCTTGGGGTGACCACTCTCCAGCCCTCATTCCCTCGCTCTCACCCCTAGCTAAGCCACTGAGCCCTGAGCCTGCCAGGCATGATGGGAGCTGGGGCCCCAGTTCTCTGTTCCTTCTTCCTTGGTTCTCCCTCATGTCCAGAACTTCCCTGCCTCAAACTTCAAAGCCCCATCTCCAGCCCAGGACTCAGGCTCTACAGACCCCTCCTCTCACACCCTCCACCCTCCAAAGCATCTTCGGCCCGCCAAGGGGCTGGAGTGGGGTGGCAGATTTTGAGCATGTGAGAAGCAGAATGTGAGGGGCAGAAATGGGGGTTGGGGACAGGGAGACAGTAATGGGGACTCAGACAGCTCAGGAGGAAGAGATGAAAAGAGAAAGGCAAAAACGTCCAGAGACAAATGCAGAGACATGTGGCTGAGCGACAGTGCCACAGACCACAGACACTTGGAAACAGAGAGTGAGACACGATGCTGAAAGCTGCAACCTCCTCCACCACCCTTCAGACCCGGAACCCCCTACCCCTTCTGCATCCTCAAACACCAGAATCACTGTCCCTGTGAGGGCCTGGGTTGAAGGCACGTAGGCCTTCTCCTTGGTCCCCACCACTTCCCTGGGGCTACTAACCCCGCACTCTCAGCTGAGTGAGCCCCCAGTGGGCCTGCCCACCCCAGCCCTACCCAGCCCTGTCCCTCACCGCAGCCTTGTACATGTCATCCATGCTGGCGGCTCACAGGACAGCTTGCTGGGGTTGCCAGCCGGCCCTTGACTTAAATAGCCCTGCCCCGCTGCATTCCTGGCCCAGCCCAGCCCAGCCCAGCCCACCCCTGCGTGTAGTATCCTCCAGCCCCTCCTCTGGTCCCAGTGATCTCAGGCTGGCCTGAGTCCCCACGTCCTCTGCCCAGGGCAGGGAGCAGACGAACGGCTACAAGGACCAGGTTTCTTTCCCTCCTGTCCCCCACACTCCCCAAAGGGACTCTCTGAAAAGGTTTCTGGAATGAATGAAAACATAAGCCCAGTGCAGGACAGGAGCTACAAAGTCGTGGGCCCCAGGCAAGGTGCAACACAACAGCTCAGGCTCCCATCCAACCAGGTTGGCGGGTTGCCATGACCTCCACTTTCCAGATAAGGAAACTGAGGCTCTGGAGGAGTGGTGACTTGCCCAAGATCTGACTGACTTGGTAACCCCCGCCTTTAACTAAACCTCTCTGGAATGGGGGTGCAATGTGCAAGGAGAGGCTAGGAGTGCAGGGCCCTGCCAAGAGAAGCCTCGAATGCCAAGCTCATAGTAAGATGCTGTGGAACTGGTGAAGGAGGAAGTGACTGACCCACCTTAGGACAGGGTGGCCAGGAGCCCTTCTGCCAGAGGAGCCTGTCCCAGACCTCCCATCTGCCCAGGGAGAAGTACCCACTTCGGGCTTAAGTCAGCTGCTCTCAGTTATTCAACAGCACCCCTATAGATGCCCCATCTGTGGCAGGCTCTTTCCCTCCTCACCCTCCAATTAGGTTACCACCTCCCTCTTCTAGGTCTCATCTTTCCCCGGTTTAGGATTCAGCACTGTAGTTCCTGGGTCCAGATCAACCTGTCTCCCTCGTTTTGAACTTTGGCAGGCCACCCCGTGGGGTTCTTGTGCTCAGTGGCAGCACACACCCCTCCATCCACCTACACCTTCCTTCGTACAGAGTTCGTATCAAGTTTATCCCTCTTGATAAACACGCTCCCTGCCTCGAGCACTACTGCGTGCTGGGCCGCGCATCAATCAACCCACTCAGTTGTCCAGAAGCCCCACTGACAAGAGATCTCCGAATCTCAGAGAGGTTCAGAACTGGCCCAGAATCACTCTCGCCCTGCTCCGGCGGTAAGCACAGGTCCTATTTTCCCCTCCAACCTGCCTTGCCCTAAAGAGAAAGAGCCCAACAGCCAGGTGAGGCACTATTATGGCCTCCTTTATCAGGAGGAGTAAACTGAGGCCAGGAAGAGCAGTGACTTGCTTCGTGTGGCCTGGGAGACTCGGGACCTTCTGTCCCCTCTTCCCGAGGACCCAGGGGCGATGCCCAGAGCTGTCACCACCCGGGGTCTCAGTTTCTAGCAGGCTGTGCAGGGTACCGCCGGCGGCGCCACGCAGGTAGATTACGCAAGCGAGCACCTCGCACGCGCGCCCTGAGTGGCCCCTGTCAGTCACGCGCGGGGGCGGGGCGAGGGCGCAGGAAGAAGGCGGGGCCAAGATGGCGGCGCAGCGCGCGGCGGGGGCGACGGGCGGCGGGGGCCGGGGGGCGGTGGGACGTTGACCCCGCCCCCTGCTGCTGCTAGTCTGCGCCGGGCGGCGGTGGCGGCGGAGACCCGAACATGGCGACCGCGCGCACCTTCGGGCCCGAGCGGGAAGCCGAGCCGGCCAAGGAAGCGCGCGTCGTGGGCTCGGAGCTTGTGGACACTTATACGGTGTGTTGGGGGCGCGGGCACCCGAAGCGGGGGTGGTGGCTGGAACCGGGAGTCCGACTCGGGGGCTTGGGGAGGGGTCCGGGATCTGCAGCCCCGAGGAGCGGGTAGAAGGGTCTGCGATTGCGAGGAGGGGGCTGGGACGGGGGATCTAGGAAAGGGATCTGGGCCCCGCAGGTCCGGGAGAAGGGTTGCTCGGGGCCCGGGGAGGCGGTTTGGAAAAGGGTACGCGATCAGAAAGGGAGGCTCGGGTTGGGGGCGGCATCTGGGGATAAAGGGGGCTTGGGGAGGGGGGTGTCTAGATGAGGCGGAACCCCTCT
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Task1_train_7080
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This mutation occurs in RFT1 (RFT1 glycolipid translocator homolog) on Chromosome 3. Does this change lead to a known medical condition, or is it benign?
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Pathogenic; RFT1-congenital disorder of glycosylation
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CTTGCATTTAGCTGCTTTTCTCCCACTTAGTGCAAAGCATTCTCCCTCTGAGTAGATAAAAACCTGCCAGGTGACTGGGCCCCAGTCTTGGTGTACTGACAGGTCTTAATCCTTAGCCCCTGGGTACTGGCTCTGGGCAAGCAGATTTAAATACATGCATTTTAATGCATGATAGGAGTTGCCCTTACTGGCCCTCTCTCTAGGTGTAGACACAGAAGGTTTGGGGCACTGAGTGACAGGATTATTAACATCCAAGTTATAGTTTGTGCATATAGTTCTGAGGGGGGTTAATATCTAAAAGGAATTAATACATTAACAAAAAAATAAAAACACTTCACACTCCAGAACACTGCTCATGATTTCACCTGCAGTGTGCAGGCTGCAAGGTGCAGAACACCTGGGCTCACACTGTAGCCTGGAGTACCAGGCCCCCATGCCTGCCACTCTTGTCCTGGGGCTGGAATTTGGTTGTATTGATCAATGCTGGAATTAATGGGTCAACGGGAGGGACCTGACTCAGTAATACTAGCCATATAGAGTTTGCCTTGTCTTATTCTGAGGATAAAAAAGTACATCTGTTAAACCTTATCTGTCACCAGTGCAATTCCCATGTGAGAAGTTACAGAAAGCTGCAAAGCAGCATTCCCCTCAGGGACAAAGTGGCTCAACTGGATCACAGTTTTCTTCAAAGTCCGCCTCTTGCAGGTGGCCAGGCCAGGAGTCTCCAGCCAGCTTTCACCCACCCTTCAATCAACAAATCCTGAGAGCCCACTCTGGGTCAAGTATGTGCTGACCTGGGGCGGCGGGGAACAGTGTGATCACGACAGGCAAGATTCTCCCGAACTCACTCTGGGAAATGTGATCTGAAAACCTTCCTGGTTTCATTTCTTGGATTTCTCACTGAGTAGCATTTTTCCTTCTCTAAAAACTCAGACCACAGTTTTGACACAAAGAAAGCCACAACTTCAGGGCCACACTCTGTTTCCATGTGGTGCATGAGAGAGAGAGGTTTCTCTCTCTCTTTTACAGAAGAAGTTCAATATTCCTGTGAAGGGTAAAATCACTGCATCTCTTTTTCTGGGCCAGATAATTATTAACAGTTAACAATTAAGATATAGTTTGTTGGAGCATGTAGCTCCAAAGGCCAATCATACGCAAAAGGAATGAGTATATTAGTAAAAGAGAAAATGCTGATTACTATAAAATGATAAAAAACTATTATTTTTAAAGGGCTTTTGGTCTTCACTTAAAAATGAAACTCCCCCCCCGCATTTCAGACTTCGAATGGTCACAGGTGTCTCATGCAGTGGCACTCTCTGGTGCCTCATCTCTGGGGTTGCTGTCACTCCGCTGCAGAGCCCTCAGTGGGGCTCTTACACAGAATGTGTTCCACCCACAGAACTACCCATAGCTGGTCCAGGTGCCTCGGGTGTCCAGGCTTCCCTGAAGTCATGTCATTTTGTCAGTGCGTCTGGGCACACCTAACTGAGTCCTGAGGAAATGGATCAGCTTGGTCTCTGTGAGGAATGCTGTCCCGAGAGTTGCTCCCAGACAGAAGGCCCCCACAGCAATGTGTGCCAGTCTGGCTGGCCAGCCCTGCTCACAGCAGAGGAATACCTGGGGAAAGAAACCATTGTCAGTGCCTGTTCCTCAGTCTATACCTCCTTCCTCTGGGACCAGCCAGGGAAGACAGCTGTGGTTCCAGCTTCTAAGTCAGATAAAAGGCATAACAGCCATACTGCAGGTCCATTGTTTCCCCATTGGCAACATTCTCTTGTCACATTATCAGAAGATGCTGCCCTAGAGGCCTGGGGAGGGGACAGGAGGAGGCAAAAACCTGGGAAGAGGAGGCCTAGCGGGAGAGACAGCGGGGCAGCTGCAGAAGCATGTGGCATGATGGCTCAGGGAGTCTCACCTCCGAAACAGCAGTAACCCCACCACTGAGGGCAAATGTCCCGAGCAGGACTGGCGATAGGTGCAGGCCAGCCAGGGGCCTGTGGGGGCTCCTTCGGTAGTAGCGGTGGATGAAGCAAAGGCTCTGCGTGATCCGAATGCCCATGTTAAAGCAGTTGGCCAAGATGAAGCCCACGCTGCCACACCAACGGGTCAAGAGATAGGATAACACCAGGAATGAGGAGGACAGGGCCAGCATCACAAAATTGTACCTGGGGAGGAGACAGGAAAAGGAGGGCAGTGGTGACCTTGCCCTGGACAAGGCTGCTCCCAAAACAGCGGCCATGAACATCAACTCACAGAAAGAACCTGAGCTCCTGGAATCCAGGTTTTCATAACATCGAATGCTACCTGGAGACCATGGGAATGTCCCTGTCCCCTTACCCTGAGCAGAAAGGTAAGAAACAACTCAGGAGATGTATGTTTTTTGAAGACAATAATTAGTTAGTTAAGCGATACTTTGTGATCAAAACATAAAAACCCTGTTCAGCCCAAGTCCTCAATGTGAGATACAAGAATGTGACCTGGGTAATTAGACATTGGATGCTAACTCTGTGACAGGCCCTGTGAGGAGTGCTGGGGACACACTGGAGAATGAACACACATGGGCCTTGCCCTGCAGAGCTTGGATTTATTTCACAGACAAGGGAAGCAGCACAGAGAAGTTGAGTAATTTGTCTCAAGAGTGAGGTAACACTCAGCCGGACTTCTGACCCCTAAGCTTCAGTACCTCACACCACTGCCCTTGGGAAATGCAGCACCCAGTAACCTTGGGCAGTAGACCCCATTCAAAGCAAATGACTGGCCTCCAAAATGAAATGGGAACTGAAACCAAAGCCTGGATCACCTCTGCTATTTTCCAGACTCTTACATATCCTCACTCCCACTCTCTGTATCTCTAGAGCTCTTTGGATCCTGGCGCTTCTTGCACTTCTCTGATTTCAAAGCAGCACATCACTTAGTTATCTTCAGTCCTCCAAAAAGAAAACAGATTCTCAGCAAACACGAAATAGCTGCCATAGTCCTCCAAAAGGCTTGTACAGCCAAGAACAAAATCCCCTAGCCTCTGGTTTCCGCCTAGCACCAAGCAGGCACTCAAAGTATATAGCTGTTGAGGGAACCAAACTTTTGACATCCTCAAGCCATGTCTGCTGGGTTAGAAAACCTCAGAGGCCACCACCCAGATTCTGCACATGAGGGGTCGTCAGAAAGCAGAATCCCAGTGCTTTGAGAGGCTGAAGTGGTGGGAGGATTGCTTGAGGCCAGGAGTTCGAGATCAGCCTGGACAACAGAGCTAGTAGACCCCCGTCTCTACAAAACCCAGTAAAAATTACCCAGGGTTGGTGGCACACACCTGCAGTCCTAGCTACTCGGGAGGTTGAAGCGGGAGGATCGCTTGAGCCTAAGAGTTTCAGATCAGCCTGGGCAATATCATGAGACCGTGTCTCTACAAAAAATTAAAAAATTAGCCGTGATATACACCTGTTGTCCCAGCGACTTGGGAGGCTGAGAGAGGAAGAAGGCTGGAGCCCAGGAGTTCAAGGCTATGGTGAGCTATGATCATGCCACTGCACTCCAGCCTGGGCAACCGAGCAACACCCTGTCTCAAAATATAATGATGACTTAAAAATGCATATGGGGCCCTCACCACCAGAGTTCCTGATTCTGCAGGTGTGGGAGGAGGTCCTAGAACTTGGCCAGTACCCTAGAACTATGCTTGTAATCCCAGCACATTGGGAGGTTGAGGCAGGAGAATTGCTTGAGGCCAAGAGTTTGAGACCAGCCTGGACAACATAGTGAGACCATGTCTCTACCAAAAAGAAAAAAGAAGGCAAGCCACTGCATCCCCCAAATGCCCAGGTATAGGTCCTTGGCTGATTCAGGCCAAGGTGCTGTGTGCTGTGGAGATACGCTTTATCAAAGTGGGTGGTAAAAATACTACACGCACACACACACACACACACACACACACACACACACTCTCACACACAATACTATACTCCAACAGGAGAGATGTGCTTTCATCCGGAGTTCCAGAGAGGGAGTTTATTTGCTTTTCAGTCCAGAGAGAGTCTCTTTTAATGAAGTACGAGAGCCTGTACCTCACAGGGGAAGTTTTTTCACTACTAATCAGTGATCAGAA
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CTTGCATTTAGCTGCTTTTCTCCCACTTAGTGCAAAGCATTCTCCCTCTGAGTAGATAAAAACCTGCCAGGTGACTGGGCCCCAGTCTTGGTGTACTGACAGGTCTTAATCCTTAGCCCCTGGGTACTGGCTCTGGGCAAGCAGATTTAAATACATGCATTTTAATGCATGATAGGAGTTGCCCTTACTGGCCCTCTCTCTAGGTGTAGACACAGAAGGTTTGGGGCACTGAGTGACAGGATTATTAACATCCAAGTTATAGTTTGTGCATATAGTTCTGAGGGGGGTTAATATCTAAAAGGAATTAATACATTAACAAAAAAATAAAAACACTTCACACTCCAGAACACTGCTCATGATTTCACCTGCAGTGTGCAGGCTGCAAGGTGCAGAACACCTGGGCTCACACTGTAGCCTGGAGTACCAGGCCCCCATGCCTGCCACTCTTGTCCTGGGGCTGGAATTTGGTTGTATTGATCAATGCTGGAATTAATGGGTCAACGGGAGGGACCTGACTCAGTAATACTAGCCATATAGAGTTTGCCTTGTCTTATTCTGAGGATAAAAAAGTACATCTGTTAAACCTTATCTGTCACCAGTGCAATTCCCATGTGAGAAGTTACAGAAAGCTGCAAAGCAGCATTCCCCTCAGGGACAAAGTGGCTCAACTGGATCACAGTTTTCTTCAAAGTCCGCCTCTTGCAGGTGGCCAGGCCAGGAGTCTCCAGCCAGCTTTCACCCACCCTTCAATCAACAAATCCTGAGAGCCCACTCTGGGTCAAGTATGTGCTGACCTGGGGCGGCGGGGAACAGTGTGATCACGACAGGCAAGATTCTCCCGAACTCACTCTGGGAAATGTGATCTGAAAACCTTCCTGGTTTCATTTCTTGGATTTCTCACTGAGTAGCATTTTTCCTTCTCTAAAAACTCAGACCACAGTTTTGACACAAAGAAAGCCACAACTTCAGGGCCACACTCTGTTTCCATGTGGTGCATGAGAGAGAGAGGTTTCTCTCTCTCTTTTACAGAAGAAGTTCAATATTCCTGTGAAGGGTAAAATCACTGCATCTCTTTTTCTGGGCCAGATAATTATTAACAGTTAACAATTAAGATATAGTTTGTTGGAGCATGTAGCTCCAAAGGCCAATCATACGCAAAAGGAATGAGTATATTAGTAAAAGAGAAAATGCTGATTACTATAAAATGATAAAAAACTATTATTTTTAAAGGGCTTTTGGTCTTCACTTAAAAATGAAACTCCCCCCCCGCATTTCAGACTTCGAATGGTCACAGGTGTCTCATGCAGTGGCACTCTCTGGTGCCTCATCTCTGGGGTTGCTGTCACTCCGCTGCAGAGCCCTCAGTGGGGCTCTTACACAGAATGTGTTCCACCCACAGAACTACCCATAGCTGGTCCAGGTGCCTCGGGTGTCCAGGCTTCCCTGAAGTCATGTCATTTTGTCAGTGCGTCTGGGCACACCTAACTGAGTCCTGAGGAAATGGATCAGCTTGGTCTCTGTGAGGAATGCTGTCCCGAGAGTTGCTCCCAGACAGAAGGCCCCCACAGCAATGTGTGCCAGTCTGGCTGGCCAGCCCTGCTCACAGCAGAGGAATACCTGGGGAAAGAAACCATTGTCAGTGCCTGTTCCTCAGTCTATACCTCCTTCCTCTGGGACCAGCCAGGGAAGACAGCTGTGGTTCCAGCTTCTAAGTCAGATAAAAGGCATAACAGCCATACTGCAGGTCCATTGTTTCCCCATTGGCAACATTCTCTTGTCACATTATCAGAAGATGCTGCCCTAGAGGCCTGGGGAGGGGACAGGAGGAGGCAAAAACCTGGGAAGAGGAGGCCTAGCGGGAGAGACAGCGGGGCAGCTGCAGAAGCATGTGGCATGATGGCTCAGGGAGTCTCACCTCCGAAACAGCAGTAACCCCACCACTGAGGGCAAATGTCCCGAGCAGGACTGGCGATAGGTGCAGGCCAGCCAGGGGCCTGTGGGGGCTCCTTCGGTAGTAGCGGTGGATGAAGCAAAGGCTCTGCGTGATCTGAATGCCCATGTTAAAGCAGTTGGCCAAGATGAAGCCCACGCTGCCACACCAACGGGTCAAGAGATAGGATAACACCAGGAATGAGGAGGACAGGGCCAGCATCACAAAATTGTACCTGGGGAGGAGACAGGAAAAGGAGGGCAGTGGTGACCTTGCCCTGGACAAGGCTGCTCCCAAAACAGCGGCCATGAACATCAACTCACAGAAAGAACCTGAGCTCCTGGAATCCAGGTTTTCATAACATCGAATGCTACCTGGAGACCATGGGAATGTCCCTGTCCCCTTACCCTGAGCAGAAAGGTAAGAAACAACTCAGGAGATGTATGTTTTTTGAAGACAATAATTAGTTAGTTAAGCGATACTTTGTGATCAAAACATAAAAACCCTGTTCAGCCCAAGTCCTCAATGTGAGATACAAGAATGTGACCTGGGTAATTAGACATTGGATGCTAACTCTGTGACAGGCCCTGTGAGGAGTGCTGGGGACACACTGGAGAATGAACACACATGGGCCTTGCCCTGCAGAGCTTGGATTTATTTCACAGACAAGGGAAGCAGCACAGAGAAGTTGAGTAATTTGTCTCAAGAGTGAGGTAACACTCAGCCGGACTTCTGACCCCTAAGCTTCAGTACCTCACACCACTGCCCTTGGGAAATGCAGCACCCAGTAACCTTGGGCAGTAGACCCCATTCAAAGCAAATGACTGGCCTCCAAAATGAAATGGGAACTGAAACCAAAGCCTGGATCACCTCTGCTATTTTCCAGACTCTTACATATCCTCACTCCCACTCTCTGTATCTCTAGAGCTCTTTGGATCCTGGCGCTTCTTGCACTTCTCTGATTTCAAAGCAGCACATCACTTAGTTATCTTCAGTCCTCCAAAAAGAAAACAGATTCTCAGCAAACACGAAATAGCTGCCATAGTCCTCCAAAAGGCTTGTACAGCCAAGAACAAAATCCCCTAGCCTCTGGTTTCCGCCTAGCACCAAGCAGGCACTCAAAGTATATAGCTGTTGAGGGAACCAAACTTTTGACATCCTCAAGCCATGTCTGCTGGGTTAGAAAACCTCAGAGGCCACCACCCAGATTCTGCACATGAGGGGTCGTCAGAAAGCAGAATCCCAGTGCTTTGAGAGGCTGAAGTGGTGGGAGGATTGCTTGAGGCCAGGAGTTCGAGATCAGCCTGGACAACAGAGCTAGTAGACCCCCGTCTCTACAAAACCCAGTAAAAATTACCCAGGGTTGGTGGCACACACCTGCAGTCCTAGCTACTCGGGAGGTTGAAGCGGGAGGATCGCTTGAGCCTAAGAGTTTCAGATCAGCCTGGGCAATATCATGAGACCGTGTCTCTACAAAAAATTAAAAAATTAGCCGTGATATACACCTGTTGTCCCAGCGACTTGGGAGGCTGAGAGAGGAAGAAGGCTGGAGCCCAGGAGTTCAAGGCTATGGTGAGCTATGATCATGCCACTGCACTCCAGCCTGGGCAACCGAGCAACACCCTGTCTCAAAATATAATGATGACTTAAAAATGCATATGGGGCCCTCACCACCAGAGTTCCTGATTCTGCAGGTGTGGGAGGAGGTCCTAGAACTTGGCCAGTACCCTAGAACTATGCTTGTAATCCCAGCACATTGGGAGGTTGAGGCAGGAGAATTGCTTGAGGCCAAGAGTTTGAGACCAGCCTGGACAACATAGTGAGACCATGTCTCTACCAAAAAGAAAAAAGAAGGCAAGCCACTGCATCCCCCAAATGCCCAGGTATAGGTCCTTGGCTGATTCAGGCCAAGGTGCTGTGTGCTGTGGAGATACGCTTTATCAAAGTGGGTGGTAAAAATACTACACGCACACACACACACACACACACACACACACACACACTCTCACACACAATACTATACTCCAACAGGAGAGATGTGCTTTCATCCGGAGTTCCAGAGAGGGAGTTTATTTGCTTTTCAGTCCAGAGAGAGTCTCTTTTAATGAAGTACGAGAGCCTGTACCTCACAGGGGAAGTTTTTTCACTACTAATCAGTGATCAGAA
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Task1_train_7081
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A variant on Chromosome 3 in gene RFT1 (RFT1 glycolipid translocator homolog) has been observed. Is this a neutral mutation, or does it result in a disease? If so, which one?
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Pathogenic; RFT1-congenital disorder of glycosylation
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TCTTAATCCTTAGCCCCTGGGTACTGGCTCTGGGCAAGCAGATTTAAATACATGCATTTTAATGCATGATAGGAGTTGCCCTTACTGGCCCTCTCTCTAGGTGTAGACACAGAAGGTTTGGGGCACTGAGTGACAGGATTATTAACATCCAAGTTATAGTTTGTGCATATAGTTCTGAGGGGGGTTAATATCTAAAAGGAATTAATACATTAACAAAAAAATAAAAACACTTCACACTCCAGAACACTGCTCATGATTTCACCTGCAGTGTGCAGGCTGCAAGGTGCAGAACACCTGGGCTCACACTGTAGCCTGGAGTACCAGGCCCCCATGCCTGCCACTCTTGTCCTGGGGCTGGAATTTGGTTGTATTGATCAATGCTGGAATTAATGGGTCAACGGGAGGGACCTGACTCAGTAATACTAGCCATATAGAGTTTGCCTTGTCTTATTCTGAGGATAAAAAAGTACATCTGTTAAACCTTATCTGTCACCAGTGCAATTCCCATGTGAGAAGTTACAGAAAGCTGCAAAGCAGCATTCCCCTCAGGGACAAAGTGGCTCAACTGGATCACAGTTTTCTTCAAAGTCCGCCTCTTGCAGGTGGCCAGGCCAGGAGTCTCCAGCCAGCTTTCACCCACCCTTCAATCAACAAATCCTGAGAGCCCACTCTGGGTCAAGTATGTGCTGACCTGGGGCGGCGGGGAACAGTGTGATCACGACAGGCAAGATTCTCCCGAACTCACTCTGGGAAATGTGATCTGAAAACCTTCCTGGTTTCATTTCTTGGATTTCTCACTGAGTAGCATTTTTCCTTCTCTAAAAACTCAGACCACAGTTTTGACACAAAGAAAGCCACAACTTCAGGGCCACACTCTGTTTCCATGTGGTGCATGAGAGAGAGAGGTTTCTCTCTCTCTTTTACAGAAGAAGTTCAATATTCCTGTGAAGGGTAAAATCACTGCATCTCTTTTTCTGGGCCAGATAATTATTAACAGTTAACAATTAAGATATAGTTTGTTGGAGCATGTAGCTCCAAAGGCCAATCATACGCAAAAGGAATGAGTATATTAGTAAAAGAGAAAATGCTGATTACTATAAAATGATAAAAAACTATTATTTTTAAAGGGCTTTTGGTCTTCACTTAAAAATGAAACTCCCCCCCCGCATTTCAGACTTCGAATGGTCACAGGTGTCTCATGCAGTGGCACTCTCTGGTGCCTCATCTCTGGGGTTGCTGTCACTCCGCTGCAGAGCCCTCAGTGGGGCTCTTACACAGAATGTGTTCCACCCACAGAACTACCCATAGCTGGTCCAGGTGCCTCGGGTGTCCAGGCTTCCCTGAAGTCATGTCATTTTGTCAGTGCGTCTGGGCACACCTAACTGAGTCCTGAGGAAATGGATCAGCTTGGTCTCTGTGAGGAATGCTGTCCCGAGAGTTGCTCCCAGACAGAAGGCCCCCACAGCAATGTGTGCCAGTCTGGCTGGCCAGCCCTGCTCACAGCAGAGGAATACCTGGGGAAAGAAACCATTGTCAGTGCCTGTTCCTCAGTCTATACCTCCTTCCTCTGGGACCAGCCAGGGAAGACAGCTGTGGTTCCAGCTTCTAAGTCAGATAAAAGGCATAACAGCCATACTGCAGGTCCATTGTTTCCCCATTGGCAACATTCTCTTGTCACATTATCAGAAGATGCTGCCCTAGAGGCCTGGGGAGGGGACAGGAGGAGGCAAAAACCTGGGAAGAGGAGGCCTAGCGGGAGAGACAGCGGGGCAGCTGCAGAAGCATGTGGCATGATGGCTCAGGGAGTCTCACCTCCGAAACAGCAGTAACCCCACCACTGAGGGCAAATGTCCCGAGCAGGACTGGCGATAGGTGCAGGCCAGCCAGGGGCCTGTGGGGGCTCCTTCGGTAGTAGCGGTGGATGAAGCAAAGGCTCTGCGTGATCCGAATGCCCATGTTAAAGCAGTTGGCCAAGATGAAGCCCACGCTGCCACACCAACGGGTCAAGAGATAGGATAACACCAGGAATGAGGAGGACAGGGCCAGCATCACAAAATTGTACCTGGGGAGGAGACAGGAAAAGGAGGGCAGTGGTGACCTTGCCCTGGACAAGGCTGCTCCCAAAACAGCGGCCATGAACATCAACTCACAGAAAGAACCTGAGCTCCTGGAATCCAGGTTTTCATAACATCGAATGCTACCTGGAGACCATGGGAATGTCCCTGTCCCCTTACCCTGAGCAGAAAGGTAAGAAACAACTCAGGAGATGTATGTTTTTTGAAGACAATAATTAGTTAGTTAAGCGATACTTTGTGATCAAAACATAAAAACCCTGTTCAGCCCAAGTCCTCAATGTGAGATACAAGAATGTGACCTGGGTAATTAGACATTGGATGCTAACTCTGTGACAGGCCCTGTGAGGAGTGCTGGGGACACACTGGAGAATGAACACACATGGGCCTTGCCCTGCAGAGCTTGGATTTATTTCACAGACAAGGGAAGCAGCACAGAGAAGTTGAGTAATTTGTCTCAAGAGTGAGGTAACACTCAGCCGGACTTCTGACCCCTAAGCTTCAGTACCTCACACCACTGCCCTTGGGAAATGCAGCACCCAGTAACCTTGGGCAGTAGACCCCATTCAAAGCAAATGACTGGCCTCCAAAATGAAATGGGAACTGAAACCAAAGCCTGGATCACCTCTGCTATTTTCCAGACTCTTACATATCCTCACTCCCACTCTCTGTATCTCTAGAGCTCTTTGGATCCTGGCGCTTCTTGCACTTCTCTGATTTCAAAGCAGCACATCACTTAGTTATCTTCAGTCCTCCAAAAAGAAAACAGATTCTCAGCAAACACGAAATAGCTGCCATAGTCCTCCAAAAGGCTTGTACAGCCAAGAACAAAATCCCCTAGCCTCTGGTTTCCGCCTAGCACCAAGCAGGCACTCAAAGTATATAGCTGTTGAGGGAACCAAACTTTTGACATCCTCAAGCCATGTCTGCTGGGTTAGAAAACCTCAGAGGCCACCACCCAGATTCTGCACATGAGGGGTCGTCAGAAAGCAGAATCCCAGTGCTTTGAGAGGCTGAAGTGGTGGGAGGATTGCTTGAGGCCAGGAGTTCGAGATCAGCCTGGACAACAGAGCTAGTAGACCCCCGTCTCTACAAAACCCAGTAAAAATTACCCAGGGTTGGTGGCACACACCTGCAGTCCTAGCTACTCGGGAGGTTGAAGCGGGAGGATCGCTTGAGCCTAAGAGTTTCAGATCAGCCTGGGCAATATCATGAGACCGTGTCTCTACAAAAAATTAAAAAATTAGCCGTGATATACACCTGTTGTCCCAGCGACTTGGGAGGCTGAGAGAGGAAGAAGGCTGGAGCCCAGGAGTTCAAGGCTATGGTGAGCTATGATCATGCCACTGCACTCCAGCCTGGGCAACCGAGCAACACCCTGTCTCAAAATATAATGATGACTTAAAAATGCATATGGGGCCCTCACCACCAGAGTTCCTGATTCTGCAGGTGTGGGAGGAGGTCCTAGAACTTGGCCAGTACCCTAGAACTATGCTTGTAATCCCAGCACATTGGGAGGTTGAGGCAGGAGAATTGCTTGAGGCCAAGAGTTTGAGACCAGCCTGGACAACATAGTGAGACCATGTCTCTACCAAAAAGAAAAAAGAAGGCAAGCCACTGCATCCCCCAAATGCCCAGGTATAGGTCCTTGGCTGATTCAGGCCAAGGTGCTGTGTGCTGTGGAGATACGCTTTATCAAAGTGGGTGGTAAAAATACTACACGCACACACACACACACACACACACACACACACACACTCTCACACACAATACTATACTCCAACAGGAGAGATGTGCTTTCATCCGGAGTTCCAGAGAGGGAGTTTATTTGCTTTTCAGTCCAGAGAGAGTCTCTTTTAATGAAGTACGAGAGCCTGTACCTCACAGGGGAAGTTTTTTCACTACTAATCAGTGATCAGAAAGGTCAACTTCAGAACAAGCCACTCAAATGGGACCCATCACAGACCAGTACTTTGACCTCTTTTCCACAAAGCAGCAGAGATATGTAACCTGTTTTTCAGAAA
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TCTTAATCCTTAGCCCCTGGGTACTGGCTCTGGGCAAGCAGATTTAAATACATGCATTTTAATGCATGATAGGAGTTGCCCTTACTGGCCCTCTCTCTAGGTGTAGACACAGAAGGTTTGGGGCACTGAGTGACAGGATTATTAACATCCAAGTTATAGTTTGTGCATATAGTTCTGAGGGGGGTTAATATCTAAAAGGAATTAATACATTAACAAAAAAATAAAAACACTTCACACTCCAGAACACTGCTCATGATTTCACCTGCAGTGTGCAGGCTGCAAGGTGCAGAACACCTGGGCTCACACTGTAGCCTGGAGTACCAGGCCCCCATGCCTGCCACTCTTGTCCTGGGGCTGGAATTTGGTTGTATTGATCAATGCTGGAATTAATGGGTCAACGGGAGGGACCTGACTCAGTAATACTAGCCATATAGAGTTTGCCTTGTCTTATTCTGAGGATAAAAAAGTACATCTGTTAAACCTTATCTGTCACCAGTGCAATTCCCATGTGAGAAGTTACAGAAAGCTGCAAAGCAGCATTCCCCTCAGGGACAAAGTGGCTCAACTGGATCACAGTTTTCTTCAAAGTCCGCCTCTTGCAGGTGGCCAGGCCAGGAGTCTCCAGCCAGCTTTCACCCACCCTTCAATCAACAAATCCTGAGAGCCCACTCTGGGTCAAGTATGTGCTGACCTGGGGCGGCGGGGAACAGTGTGATCACGACAGGCAAGATTCTCCCGAACTCACTCTGGGAAATGTGATCTGAAAACCTTCCTGGTTTCATTTCTTGGATTTCTCACTGAGTAGCATTTTTCCTTCTCTAAAAACTCAGACCACAGTTTTGACACAAAGAAAGCCACAACTTCAGGGCCACACTCTGTTTCCATGTGGTGCATGAGAGAGAGAGGTTTCTCTCTCTCTTTTACAGAAGAAGTTCAATATTCCTGTGAAGGGTAAAATCACTGCATCTCTTTTTCTGGGCCAGATAATTATTAACAGTTAACAATTAAGATATAGTTTGTTGGAGCATGTAGCTCCAAAGGCCAATCATACGCAAAAGGAATGAGTATATTAGTAAAAGAGAAAATGCTGATTACTATAAAATGATAAAAAACTATTATTTTTAAAGGGCTTTTGGTCTTCACTTAAAAATGAAACTCCCCCCCCGCATTTCAGACTTCGAATGGTCACAGGTGTCTCATGCAGTGGCACTCTCTGGTGCCTCATCTCTGGGGTTGCTGTCACTCCGCTGCAGAGCCCTCAGTGGGGCTCTTACACAGAATGTGTTCCACCCACAGAACTACCCATAGCTGGTCCAGGTGCCTCGGGTGTCCAGGCTTCCCTGAAGTCATGTCATTTTGTCAGTGCGTCTGGGCACACCTAACTGAGTCCTGAGGAAATGGATCAGCTTGGTCTCTGTGAGGAATGCTGTCCCGAGAGTTGCTCCCAGACAGAAGGCCCCCACAGCAATGTGTGCCAGTCTGGCTGGCCAGCCCTGCTCACAGCAGAGGAATACCTGGGGAAAGAAACCATTGTCAGTGCCTGTTCCTCAGTCTATACCTCCTTCCTCTGGGACCAGCCAGGGAAGACAGCTGTGGTTCCAGCTTCTAAGTCAGATAAAAGGCATAACAGCCATACTGCAGGTCCATTGTTTCCCCATTGGCAACATTCTCTTGTCACATTATCAGAAGATGCTGCCCTAGAGGCCTGGGGAGGGGACAGGAGGAGGCAAAAACCTGGGAAGAGGAGGCCTAGCGGGAGAGACAGCGGGGCAGCTGCAGAAGCATGTGGCATGATGGCTCAGGGAGTCTCACCTCCGAAACAGCAGTAACCCCACCACTGAGGGCAAATGTCCCGAGCAGGACTGGCGATAGGTGCAGGCCAGCCAGGGGCCTGTGGGGGCTCCTTCGGTAGTAGCGGTGGATGAAGCAAAGGCTCTGCGTGATCCGAATGCCCATGTTAAAGCAGTTGGCCAAGATGAAGCCCACGCTGCCACACCAACGGGTCAAGAGATAGGATAACACCAGGAATGAGGAGGACAGGGCCAGCACCACAAAATTGTACCTGGGGAGGAGACAGGAAAAGGAGGGCAGTGGTGACCTTGCCCTGGACAAGGCTGCTCCCAAAACAGCGGCCATGAACATCAACTCACAGAAAGAACCTGAGCTCCTGGAATCCAGGTTTTCATAACATCGAATGCTACCTGGAGACCATGGGAATGTCCCTGTCCCCTTACCCTGAGCAGAAAGGTAAGAAACAACTCAGGAGATGTATGTTTTTTGAAGACAATAATTAGTTAGTTAAGCGATACTTTGTGATCAAAACATAAAAACCCTGTTCAGCCCAAGTCCTCAATGTGAGATACAAGAATGTGACCTGGGTAATTAGACATTGGATGCTAACTCTGTGACAGGCCCTGTGAGGAGTGCTGGGGACACACTGGAGAATGAACACACATGGGCCTTGCCCTGCAGAGCTTGGATTTATTTCACAGACAAGGGAAGCAGCACAGAGAAGTTGAGTAATTTGTCTCAAGAGTGAGGTAACACTCAGCCGGACTTCTGACCCCTAAGCTTCAGTACCTCACACCACTGCCCTTGGGAAATGCAGCACCCAGTAACCTTGGGCAGTAGACCCCATTCAAAGCAAATGACTGGCCTCCAAAATGAAATGGGAACTGAAACCAAAGCCTGGATCACCTCTGCTATTTTCCAGACTCTTACATATCCTCACTCCCACTCTCTGTATCTCTAGAGCTCTTTGGATCCTGGCGCTTCTTGCACTTCTCTGATTTCAAAGCAGCACATCACTTAGTTATCTTCAGTCCTCCAAAAAGAAAACAGATTCTCAGCAAACACGAAATAGCTGCCATAGTCCTCCAAAAGGCTTGTACAGCCAAGAACAAAATCCCCTAGCCTCTGGTTTCCGCCTAGCACCAAGCAGGCACTCAAAGTATATAGCTGTTGAGGGAACCAAACTTTTGACATCCTCAAGCCATGTCTGCTGGGTTAGAAAACCTCAGAGGCCACCACCCAGATTCTGCACATGAGGGGTCGTCAGAAAGCAGAATCCCAGTGCTTTGAGAGGCTGAAGTGGTGGGAGGATTGCTTGAGGCCAGGAGTTCGAGATCAGCCTGGACAACAGAGCTAGTAGACCCCCGTCTCTACAAAACCCAGTAAAAATTACCCAGGGTTGGTGGCACACACCTGCAGTCCTAGCTACTCGGGAGGTTGAAGCGGGAGGATCGCTTGAGCCTAAGAGTTTCAGATCAGCCTGGGCAATATCATGAGACCGTGTCTCTACAAAAAATTAAAAAATTAGCCGTGATATACACCTGTTGTCCCAGCGACTTGGGAGGCTGAGAGAGGAAGAAGGCTGGAGCCCAGGAGTTCAAGGCTATGGTGAGCTATGATCATGCCACTGCACTCCAGCCTGGGCAACCGAGCAACACCCTGTCTCAAAATATAATGATGACTTAAAAATGCATATGGGGCCCTCACCACCAGAGTTCCTGATTCTGCAGGTGTGGGAGGAGGTCCTAGAACTTGGCCAGTACCCTAGAACTATGCTTGTAATCCCAGCACATTGGGAGGTTGAGGCAGGAGAATTGCTTGAGGCCAAGAGTTTGAGACCAGCCTGGACAACATAGTGAGACCATGTCTCTACCAAAAAGAAAAAAGAAGGCAAGCCACTGCATCCCCCAAATGCCCAGGTATAGGTCCTTGGCTGATTCAGGCCAAGGTGCTGTGTGCTGTGGAGATACGCTTTATCAAAGTGGGTGGTAAAAATACTACACGCACACACACACACACACACACACACACACACACACTCTCACACACAATACTATACTCCAACAGGAGAGATGTGCTTTCATCCGGAGTTCCAGAGAGGGAGTTTATTTGCTTTTCAGTCCAGAGAGAGTCTCTTTTAATGAAGTACGAGAGCCTGTACCTCACAGGGGAAGTTTTTTCACTACTAATCAGTGATCAGAAAGGTCAACTTCAGAACAAGCCACTCAAATGGGACCCATCACAGACCAGTACTTTGACCTCTTTTCCACAAAGCAGCAGAGATATGTAACCTGTTTTTCAGAAA
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Task1_train_7082
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The gene RFT1 (RFT1 glycolipid translocator homolog) on Chromosome 3 carries this variant. Does this mutation lead to a specific disease, or is it non-pathogenic?
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Pathogenic; RFT1-congenital disorder of glycosylation
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GAAAGCCAACAGCAAGGAGAAGTCCTAATAACTTCTCCAAGTGAGGCTGGGGAAGCTGATTGTCCTGGCGCCAACGCCCCTGCCTATACCTTGAGTGTGTGTCTGGAGTTGAACGAGGGGAACAGTCCCACAGCCCCTGCCACCAGACAGTTTTCCCTACACTGACACAGATAACAACTGTGTGTGCACAAGTTCTTGAATTTCGTGACTCTTCTATTTATGTTGGGAAATCAGAAAAAATCCAGAAAAACTCTTGTGCGTACCGGATCCTGAGCTAAGCATGGTCCCTCCGTAGATATCCAGAGCCAGCTGAGAATAGGCAAAGCCAAAAACAGTGATGGTCAGGCCGGCCAGCAGGGCCAGCTTGAGCAGGGACTCCAAGACTGCAGCAGCCACAGCAACGTCCTCCTGGGGCCAGGGAAGAGGGAAGGAAGTTGGATGAATCATGAGCTGAAGAAAACCTTCATCCTTCACGTCTGGCCTTCTCCCTTCACTGTTTTACAGTTCACTCTTCCAACAGCGTGATGGATATCACTATTTTTTTGTAGTGTGTTTGTTTTCACGTCAGTTAGCAAATGAAGGAAAAAGTGTGTGTCTCCTTAGGTCGTAAGGGGGAGGGTTAGTTTTCAATTCACTTGGGATAAATTGTTTCAAATATTGCTTAGGAAACACTCACTTTCCCCTCTGATATTTGTTCTTTTTTTTTTTTTTAAATAGAAATAGAGAAGGGAGTCTCACTATGTTGACCAGGCTAATCTCAAACTCCTGGCCTCAAGCAATCCTCCTGCCTTGGCCTCCCAAAGCGTGAGGCTTACAGGCATGAGCCACTGCACCAGACCACTAATATTTATTCTTAAATGTGCAGCAAGTTTTCATATACACTAGCCAGCTCTGTGCTTCTCCTGCTAAACATTCCAAAATTATGATGATACTGTGAAGGTACTCTTAGGAAAATATTCCTAAATCAGACTGAGTACCAGATTAGCTCATTTTGAGATATTGTGCATAAACTGTATTTTACTAAATTTCTTCTAAGACAAGCAAGAGGCTGAACTAGCTTGCTATTCTAAGAAAAGTCAGACATTTTCAGTGGTTTTGGAAAAAGTGAAGCTCCTACAACAAAATACTCCTAGATTAAAATCTCTTCTTCTGTATTTACCAACCCGAGTATACAGAATCTTACAGTCAGAGTGTAGCTCTGGGCATGTCCCAGTTGTAAGAAGCTTAAATAATTGGTGTGGTGAGCGAAAGCCAACAACCACTTCCTCTCCTCCCTATGCCCTTGATTAGCCTGGCTCCAACTTCTGCATCCTTTGGCTCTTGAGACTCTGAGGATAAGGGAAGCATTCTTACGCCTAAGACTAGCCCATGGCTGGGCATCTGCAGGGCAATGGGGACAGCTTTAGAGTCCTGAGAGGGCTGGATCAAGAGTAAGGTCACATGGCCAGGTATGGGGGCTCACACCTGTAATCCTAGCACTTTGGGAGGCTGAGGTGGGCAGACTGCCTGAAGTCAGGAGTTCAAGAGCAGCCTGGCCAACATGGCAAAACCCCATCTCTACTAAAAATACATAAATTAGCTGGGTGTGGTGGCGCATGCCTGTAGTCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATCGTTTGAACCTGGGAGGTGGAGGTTGCAGTGAGCCGAGGTCATGCCACTGCACTCCAGGCTGGGCGTCAGAGCAAGACTCTATCCCCGCCCCCCCCCCCAAAAAGAGTAAGGTCACAACGAATAACAAAGGTGTGAGAAGGAAGGGACAGCCAAGAGCAAAGCAAGAAGGCCACGAAAGAAGAGGTGAGCCCTGGGTCCCACTATCATGAAGAATGTAATAGAAGAATGAAATCTATAAGAAAATTCCTGATCAAACAGAAGAGAAACAGACTGCTTCACACTCCTGTCTGTCTTGCAATTAAAGGGAGAATTCACTTGAGAGATGACATAAGAACCAACATTACCTGCTTCTGAAGTGTGGCATCCTTTCCCCTCTCCAGCACCTTAGCAAAAAATATATAAAAACTTTCCTCTATTGGCTGGAAAATTAATCTGGCCACAAGGGAGCCAAGATTATTCACTATATCATACACACCTACAAAACAAAAAAGAAGAAACAACAATCATGTTGGTTTTTCTATTTTAATTTTTATAGCACTATTAAAATTATTTAATATTTTCATTAAAGTTTGTTTATCTTGAGATAATTATAGATTCACACAGAGTTATAAGAAGTAATAGTGGCCAGGCACGGTGGCTCATGCCTATAATCCCAGCACTTTGGGAGGCCAGGGTGGGTGGACTGCTTGAGCCAGGGAGTTTGAGATGAGCCTGGGAAACACGGAAAAACCCTGTCTCTACAAAAATGGAAAAATTTAGCCAGGCGTGGTGGTGTGCATTTGTAGTCCCAGTTATTTGGGAGGCTGAGGTGGGAGGATCACCCAAGCCCAGGAGGTTGAGGCTGCAGTGAGCTGTGATGGTACCACTGCACTCCAGCCTGGGCAATAGAATGAGACCCTGTCTCAAAAAATAAAAAATAAATAAAAAAGACAAAAAAATAGGAAGTAATAGAGGGATCCCATATATACCCTTTACCCAGTGGTAACATTTTGTAAAACTATAGTACAATATCACAACCAGGATACCAACGATGATACAGTCAAGATACAGAATGCTTCCATCAACAGTACTTTCTTATACAGGTCATTAATGCAAAGTTGATGTTTTTCTATTTGATTTCAGTTACTTTGGGATTACATTAAAAGATAAAAATGAAAATACTGAAAGACTATCTAGCCACACAAACATGGGGCAGATTTTTGTGGCTGTGACAGTGAGCTCCCTTTTCTCCTCTCTTGGCACCTCCCACCTCCCAAAATGAACACCAGAGCTCTCAGGAGGCAAAATAGAGGGCCGGGGTCTCACCAGAATACCTGACACCAAAGTCATGTTGGAGGGCATAGTCAGTACAAAGACCTACAATTTACAATCTTCAGGATTTTCTTTAATCTTCAGGTTCATCTTTCATTAAATATATCAGAGAAAAATATTAGGAAGTATCTATTAATAGTGTTCACCTTTAATTAAAACACTACAGAATTTCATCTTACCCTGATCACCAAAGTTCAATACATTCAAAAATGTCATCACATATCGCTCGCCTATAAACAAAAAAGCAAAATAATTAGCAATGTCAAATGCACATTACTTTATTGTTTCCTTTCTCTCACCAGCTATCAACTTTTCCAGCTGACAAATAAAGGAGAAATACTAGGTAATCAGTTAAAGACATGTCCTTGTCCTAATGTTGATTTCAAATAATCTCAGAGTAACAATTTGGAAAGTGCTGAGGACTTTATTGACAGCAAATCTCCAAGCCAGTTAAATTACAAATAAAAAAAAATAAAAATAAAACAAGTCTAAAAAGGTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCACCCAGGCTGGAGTACAGTGGCACGATTTCGGCTCCCTGCAAGCTCTGCCTTCTGGGTTCATGCCATTCTCCTGCCTCAGTCTCCCGAGCAGCTGGGACTACAGGCGCCCGCCACCGCACCCGGCTAATTTTTTTTGTATTTTTAGTAGAGATGGGGTTTCACTGTGTTAGCCAGGATGGTCTCGATCTCCTGACCTCGTGATCTGCCCACCTCAGCCTCCCAAAGTGCTGGGATTACAGGCGTAAGCCACCACGCCCAGCCCTAAAAATAAGTTTTTAAAAAAGTATGTGGAGATTATTAAATGTTAATAATGAAGATGATAGTCCCAAGTCTTAAGGGGAGGTCAGATAATCTGAGCGTAAATTATCTGTGAAGAGTCCATGATTATATGCACAAGCTTATCCAAAGGTTCCTCAGGGGTGGAGACAGCTCCCTGGGGGCTGGCAAGGCATTAGACTGTCTTAGATTTGAATCATGAACTCACGTCTGAGTTCATGATTCAAATTTAAGACAGTCTAATGCCTTCAAGGTGAAGACACCAGCCAGGGCCCCCATCCCCTTGGCTTTCATGAAGTTTCTCATCTATGAAGAAAAAGTGTTGACCACTATG
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GAAAGCCAACAGCAAGGAGAAGTCCTAATAACTTCTCCAAGTGAGGCTGGGGAAGCTGATTGTCCTGGCGCCAACGCCCCTGCCTATACCTTGAGTGTGTGTCTGGAGTTGAACGAGGGGAACAGTCCCACAGCCCCTGCCACCAGACAGTTTTCCCTACACTGACACAGATAACAACTGTGTGTGCACAAGTTCTTGAATTTCGTGACTCTTCTATTTATGTTGGGAAATCAGAAAAAATCCAGAAAAACTCTTGTGCGTACCGGATCCTGAGCTAAGCATGGTCCCTCCGTAGATATCCAGAGCCAGCTGAGAATAGGCAAAGCCAAAAACAGTGATGGTCAGGCCGGCCAGCAGGGCCAGCTTGAGCAGGGACTCCAAGACTGCAGCAGCCACAGCAACGTCCTCCTGGGGCCAGGGAAGAGGGAAGGAAGTTGGATGAATCATGAGCTGAAGAAAACCTTCATCCTTCACGTCTGGCCTTCTCCCTTCACTGTTTTACAGTTCACTCTTCCAACAGCGTGATGGATATCACTATTTTTTTGTAGTGTGTTTGTTTTCACGTCAGTTAGCAAATGAAGGAAAAAGTGTGTGTCTCCTTAGGTCGTAAGGGGGAGGGTTAGTTTTCAATTCACTTGGGATAAATTGTTTCAAATATTGCTTAGGAAACACTCACTTTCCCCTCTGATATTTGTTCTTTTTTTTTTTTTTAAATAGAAATAGAGAAGGGAGTCTCACTATGTTGACCAGGCTAATCTCAAACTCCTGGCCTCAAGCAATCCTCCTGCCTTGGCCTCCCAAAGCGTGAGGCTTACAGGCATGAGCCACTGCACCAGACCACTAATATTTATTCTTAAATGTGCAGCAAGTTTTCATATACACTAGCCAGCTCTGTGCTTCTCCTGCTAAACATTCCAAAATTATGATGATACTGTGAAGGTACTCTTAGGAAAATATTCCTAAATCAGACTGAGTACCAGATTAGCTCATTTTGAGATATTGTGCATAAACTGTATTTTACTAAATTTCTTCTAAGACAAGCAAGAGGCTGAACTAGCTTGCTATTCTAAGAAAAGTCAGACATTTTCAGTGGTTTTGGAAAAAGTGAAGCTCCTACAACAAAATACTCCTAGATTAAAATCTCTTCTTCTGTATTTACCAACCCGAGTATACAGAATCTTACAGTCAGAGTGTAGCTCTGGGCATGTCCCAGTTGTAAGAAGCTTAAATAATTGGTGTGGTGAGCGAAAGCCAACAACCACTTCCTCTCCTCCCTATGCCCTTGATTAGCCTGGCTCCAACTTCTGCATCCTTTGGCTCTTGAGACTCTGAGGATAAGGGAAGCATTCTTACGCCTAAGACTAGCCCATGGCTGGGCATCTGCAGGGCAATGGGGACAGCTTTAGAGTCCTGAGAGGGCTGGATCAAGAGTAAGGTCACATGGCCAGGTATGGGGGCTCACACCTGTAATCCTAGCACTTTGGGAGGCTGAGGTGGGCAGACTGCCTGAAGTCAGGAGTTCAAGAGCAGCCTGGCCAACATGGCAAAACCCCATCTCTACTAAAAATACATAAATTAGCTGGGTGTGGTGGCGCATGCCTGTAGTCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATCGTTTGAACCTGGGAGGTGGAGGTTGCAGTGAGCCGAGGTCATGCCACTGCACTCCAGGCTGGGCGTCAGAGCAAGACTCTATCCCCGCCCCCCCCCCCAAAAAGAGTAAGGTCACAACGAATAACAAAGGTGTGAGAAGGAAGGGACAGCCAAGAGCAAAGCAAGAAGGCCACGAAAGAAGAGGTGAGCCCTGGGTCCCACTATCATGAAGAATGTAATAGAAGAATGAAATCTATAAGAAAATTCCTGATCAAACAGAAGAGAAACAGACTGCTTCACACTCCTGTCTGTCTTGCAATTAAAGGGAGAATTCACTTGAGAGATGACATAAGAACCAACATTACCTGCTTCTGAAGTGTGGCATCCTTTCCCCTCTCCAGCACCTTAGCAAAAAATATATAAAAACTTTTCTCTATTGGCTGGAAAATTAATCTGGCCACAAGGGAGCCAAGATTATTCACTATATCATACACACCTACAAAACAAAAAAGAAGAAACAACAATCATGTTGGTTTTTCTATTTTAATTTTTATAGCACTATTAAAATTATTTAATATTTTCATTAAAGTTTGTTTATCTTGAGATAATTATAGATTCACACAGAGTTATAAGAAGTAATAGTGGCCAGGCACGGTGGCTCATGCCTATAATCCCAGCACTTTGGGAGGCCAGGGTGGGTGGACTGCTTGAGCCAGGGAGTTTGAGATGAGCCTGGGAAACACGGAAAAACCCTGTCTCTACAAAAATGGAAAAATTTAGCCAGGCGTGGTGGTGTGCATTTGTAGTCCCAGTTATTTGGGAGGCTGAGGTGGGAGGATCACCCAAGCCCAGGAGGTTGAGGCTGCAGTGAGCTGTGATGGTACCACTGCACTCCAGCCTGGGCAATAGAATGAGACCCTGTCTCAAAAAATAAAAAATAAATAAAAAAGACAAAAAAATAGGAAGTAATAGAGGGATCCCATATATACCCTTTACCCAGTGGTAACATTTTGTAAAACTATAGTACAATATCACAACCAGGATACCAACGATGATACAGTCAAGATACAGAATGCTTCCATCAACAGTACTTTCTTATACAGGTCATTAATGCAAAGTTGATGTTTTTCTATTTGATTTCAGTTACTTTGGGATTACATTAAAAGATAAAAATGAAAATACTGAAAGACTATCTAGCCACACAAACATGGGGCAGATTTTTGTGGCTGTGACAGTGAGCTCCCTTTTCTCCTCTCTTGGCACCTCCCACCTCCCAAAATGAACACCAGAGCTCTCAGGAGGCAAAATAGAGGGCCGGGGTCTCACCAGAATACCTGACACCAAAGTCATGTTGGAGGGCATAGTCAGTACAAAGACCTACAATTTACAATCTTCAGGATTTTCTTTAATCTTCAGGTTCATCTTTCATTAAATATATCAGAGAAAAATATTAGGAAGTATCTATTAATAGTGTTCACCTTTAATTAAAACACTACAGAATTTCATCTTACCCTGATCACCAAAGTTCAATACATTCAAAAATGTCATCACATATCGCTCGCCTATAAACAAAAAAGCAAAATAATTAGCAATGTCAAATGCACATTACTTTATTGTTTCCTTTCTCTCACCAGCTATCAACTTTTCCAGCTGACAAATAAAGGAGAAATACTAGGTAATCAGTTAAAGACATGTCCTTGTCCTAATGTTGATTTCAAATAATCTCAGAGTAACAATTTGGAAAGTGCTGAGGACTTTATTGACAGCAAATCTCCAAGCCAGTTAAATTACAAATAAAAAAAAATAAAAATAAAACAAGTCTAAAAAGGTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCACCCAGGCTGGAGTACAGTGGCACGATTTCGGCTCCCTGCAAGCTCTGCCTTCTGGGTTCATGCCATTCTCCTGCCTCAGTCTCCCGAGCAGCTGGGACTACAGGCGCCCGCCACCGCACCCGGCTAATTTTTTTTGTATTTTTAGTAGAGATGGGGTTTCACTGTGTTAGCCAGGATGGTCTCGATCTCCTGACCTCGTGATCTGCCCACCTCAGCCTCCCAAAGTGCTGGGATTACAGGCGTAAGCCACCACGCCCAGCCCTAAAAATAAGTTTTTAAAAAAGTATGTGGAGATTATTAAATGTTAATAATGAAGATGATAGTCCCAAGTCTTAAGGGGAGGTCAGATAATCTGAGCGTAAATTATCTGTGAAGAGTCCATGATTATATGCACAAGCTTATCCAAAGGTTCCTCAGGGGTGGAGACAGCTCCCTGGGGGCTGGCAAGGCATTAGACTGTCTTAGATTTGAATCATGAACTCACGTCTGAGTTCATGATTCAAATTTAAGACAGTCTAATGCCTTCAAGGTGAAGACACCAGCCAGGGCCCCCATCCCCTTGGCTTTCATGAAGTTTCTCATCTATGAAGAAAAAGTGTTGACCACTATG
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Task1_train_7083
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A variant found in Chromosome 3 affects RFT1 (RFT1 glycolipid translocator homolog). Please analyze its biological impact: is it benign or pathogenic, and what condition might it cause?
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Pathogenic; RFT1-congenital disorder of glycosylation
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CCAACAGCAAGGAGAAGTCCTAATAACTTCTCCAAGTGAGGCTGGGGAAGCTGATTGTCCTGGCGCCAACGCCCCTGCCTATACCTTGAGTGTGTGTCTGGAGTTGAACGAGGGGAACAGTCCCACAGCCCCTGCCACCAGACAGTTTTCCCTACACTGACACAGATAACAACTGTGTGTGCACAAGTTCTTGAATTTCGTGACTCTTCTATTTATGTTGGGAAATCAGAAAAAATCCAGAAAAACTCTTGTGCGTACCGGATCCTGAGCTAAGCATGGTCCCTCCGTAGATATCCAGAGCCAGCTGAGAATAGGCAAAGCCAAAAACAGTGATGGTCAGGCCGGCCAGCAGGGCCAGCTTGAGCAGGGACTCCAAGACTGCAGCAGCCACAGCAACGTCCTCCTGGGGCCAGGGAAGAGGGAAGGAAGTTGGATGAATCATGAGCTGAAGAAAACCTTCATCCTTCACGTCTGGCCTTCTCCCTTCACTGTTTTACAGTTCACTCTTCCAACAGCGTGATGGATATCACTATTTTTTTGTAGTGTGTTTGTTTTCACGTCAGTTAGCAAATGAAGGAAAAAGTGTGTGTCTCCTTAGGTCGTAAGGGGGAGGGTTAGTTTTCAATTCACTTGGGATAAATTGTTTCAAATATTGCTTAGGAAACACTCACTTTCCCCTCTGATATTTGTTCTTTTTTTTTTTTTTAAATAGAAATAGAGAAGGGAGTCTCACTATGTTGACCAGGCTAATCTCAAACTCCTGGCCTCAAGCAATCCTCCTGCCTTGGCCTCCCAAAGCGTGAGGCTTACAGGCATGAGCCACTGCACCAGACCACTAATATTTATTCTTAAATGTGCAGCAAGTTTTCATATACACTAGCCAGCTCTGTGCTTCTCCTGCTAAACATTCCAAAATTATGATGATACTGTGAAGGTACTCTTAGGAAAATATTCCTAAATCAGACTGAGTACCAGATTAGCTCATTTTGAGATATTGTGCATAAACTGTATTTTACTAAATTTCTTCTAAGACAAGCAAGAGGCTGAACTAGCTTGCTATTCTAAGAAAAGTCAGACATTTTCAGTGGTTTTGGAAAAAGTGAAGCTCCTACAACAAAATACTCCTAGATTAAAATCTCTTCTTCTGTATTTACCAACCCGAGTATACAGAATCTTACAGTCAGAGTGTAGCTCTGGGCATGTCCCAGTTGTAAGAAGCTTAAATAATTGGTGTGGTGAGCGAAAGCCAACAACCACTTCCTCTCCTCCCTATGCCCTTGATTAGCCTGGCTCCAACTTCTGCATCCTTTGGCTCTTGAGACTCTGAGGATAAGGGAAGCATTCTTACGCCTAAGACTAGCCCATGGCTGGGCATCTGCAGGGCAATGGGGACAGCTTTAGAGTCCTGAGAGGGCTGGATCAAGAGTAAGGTCACATGGCCAGGTATGGGGGCTCACACCTGTAATCCTAGCACTTTGGGAGGCTGAGGTGGGCAGACTGCCTGAAGTCAGGAGTTCAAGAGCAGCCTGGCCAACATGGCAAAACCCCATCTCTACTAAAAATACATAAATTAGCTGGGTGTGGTGGCGCATGCCTGTAGTCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATCGTTTGAACCTGGGAGGTGGAGGTTGCAGTGAGCCGAGGTCATGCCACTGCACTCCAGGCTGGGCGTCAGAGCAAGACTCTATCCCCGCCCCCCCCCCCAAAAAGAGTAAGGTCACAACGAATAACAAAGGTGTGAGAAGGAAGGGACAGCCAAGAGCAAAGCAAGAAGGCCACGAAAGAAGAGGTGAGCCCTGGGTCCCACTATCATGAAGAATGTAATAGAAGAATGAAATCTATAAGAAAATTCCTGATCAAACAGAAGAGAAACAGACTGCTTCACACTCCTGTCTGTCTTGCAATTAAAGGGAGAATTCACTTGAGAGATGACATAAGAACCAACATTACCTGCTTCTGAAGTGTGGCATCCTTTCCCCTCTCCAGCACCTTAGCAAAAAATATATAAAAACTTTCCTCTATTGGCTGGAAAATTAATCTGGCCACAAGGGAGCCAAGATTATTCACTATATCATACACACCTACAAAACAAAAAAGAAGAAACAACAATCATGTTGGTTTTTCTATTTTAATTTTTATAGCACTATTAAAATTATTTAATATTTTCATTAAAGTTTGTTTATCTTGAGATAATTATAGATTCACACAGAGTTATAAGAAGTAATAGTGGCCAGGCACGGTGGCTCATGCCTATAATCCCAGCACTTTGGGAGGCCAGGGTGGGTGGACTGCTTGAGCCAGGGAGTTTGAGATGAGCCTGGGAAACACGGAAAAACCCTGTCTCTACAAAAATGGAAAAATTTAGCCAGGCGTGGTGGTGTGCATTTGTAGTCCCAGTTATTTGGGAGGCTGAGGTGGGAGGATCACCCAAGCCCAGGAGGTTGAGGCTGCAGTGAGCTGTGATGGTACCACTGCACTCCAGCCTGGGCAATAGAATGAGACCCTGTCTCAAAAAATAAAAAATAAATAAAAAAGACAAAAAAATAGGAAGTAATAGAGGGATCCCATATATACCCTTTACCCAGTGGTAACATTTTGTAAAACTATAGTACAATATCACAACCAGGATACCAACGATGATACAGTCAAGATACAGAATGCTTCCATCAACAGTACTTTCTTATACAGGTCATTAATGCAAAGTTGATGTTTTTCTATTTGATTTCAGTTACTTTGGGATTACATTAAAAGATAAAAATGAAAATACTGAAAGACTATCTAGCCACACAAACATGGGGCAGATTTTTGTGGCTGTGACAGTGAGCTCCCTTTTCTCCTCTCTTGGCACCTCCCACCTCCCAAAATGAACACCAGAGCTCTCAGGAGGCAAAATAGAGGGCCGGGGTCTCACCAGAATACCTGACACCAAAGTCATGTTGGAGGGCATAGTCAGTACAAAGACCTACAATTTACAATCTTCAGGATTTTCTTTAATCTTCAGGTTCATCTTTCATTAAATATATCAGAGAAAAATATTAGGAAGTATCTATTAATAGTGTTCACCTTTAATTAAAACACTACAGAATTTCATCTTACCCTGATCACCAAAGTTCAATACATTCAAAAATGTCATCACATATCGCTCGCCTATAAACAAAAAAGCAAAATAATTAGCAATGTCAAATGCACATTACTTTATTGTTTCCTTTCTCTCACCAGCTATCAACTTTTCCAGCTGACAAATAAAGGAGAAATACTAGGTAATCAGTTAAAGACATGTCCTTGTCCTAATGTTGATTTCAAATAATCTCAGAGTAACAATTTGGAAAGTGCTGAGGACTTTATTGACAGCAAATCTCCAAGCCAGTTAAATTACAAATAAAAAAAAATAAAAATAAAACAAGTCTAAAAAGGTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCACCCAGGCTGGAGTACAGTGGCACGATTTCGGCTCCCTGCAAGCTCTGCCTTCTGGGTTCATGCCATTCTCCTGCCTCAGTCTCCCGAGCAGCTGGGACTACAGGCGCCCGCCACCGCACCCGGCTAATTTTTTTTGTATTTTTAGTAGAGATGGGGTTTCACTGTGTTAGCCAGGATGGTCTCGATCTCCTGACCTCGTGATCTGCCCACCTCAGCCTCCCAAAGTGCTGGGATTACAGGCGTAAGCCACCACGCCCAGCCCTAAAAATAAGTTTTTAAAAAAGTATGTGGAGATTATTAAATGTTAATAATGAAGATGATAGTCCCAAGTCTTAAGGGGAGGTCAGATAATCTGAGCGTAAATTATCTGTGAAGAGTCCATGATTATATGCACAAGCTTATCCAAAGGTTCCTCAGGGGTGGAGACAGCTCCCTGGGGGCTGGCAAGGCATTAGACTGTCTTAGATTTGAATCATGAACTCACGTCTGAGTTCATGATTCAAATTTAAGACAGTCTAATGCCTTCAAGGTGAAGACACCAGCCAGGGCCCCCATCCCCTTGGCTTTCATGAAGTTTCTCATCTATGAAGAAAAAGTGTTGACCACTATGGAAAA
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CCAACAGCAAGGAGAAGTCCTAATAACTTCTCCAAGTGAGGCTGGGGAAGCTGATTGTCCTGGCGCCAACGCCCCTGCCTATACCTTGAGTGTGTGTCTGGAGTTGAACGAGGGGAACAGTCCCACAGCCCCTGCCACCAGACAGTTTTCCCTACACTGACACAGATAACAACTGTGTGTGCACAAGTTCTTGAATTTCGTGACTCTTCTATTTATGTTGGGAAATCAGAAAAAATCCAGAAAAACTCTTGTGCGTACCGGATCCTGAGCTAAGCATGGTCCCTCCGTAGATATCCAGAGCCAGCTGAGAATAGGCAAAGCCAAAAACAGTGATGGTCAGGCCGGCCAGCAGGGCCAGCTTGAGCAGGGACTCCAAGACTGCAGCAGCCACAGCAACGTCCTCCTGGGGCCAGGGAAGAGGGAAGGAAGTTGGATGAATCATGAGCTGAAGAAAACCTTCATCCTTCACGTCTGGCCTTCTCCCTTCACTGTTTTACAGTTCACTCTTCCAACAGCGTGATGGATATCACTATTTTTTTGTAGTGTGTTTGTTTTCACGTCAGTTAGCAAATGAAGGAAAAAGTGTGTGTCTCCTTAGGTCGTAAGGGGGAGGGTTAGTTTTCAATTCACTTGGGATAAATTGTTTCAAATATTGCTTAGGAAACACTCACTTTCCCCTCTGATATTTGTTCTTTTTTTTTTTTTTAAATAGAAATAGAGAAGGGAGTCTCACTATGTTGACCAGGCTAATCTCAAACTCCTGGCCTCAAGCAATCCTCCTGCCTTGGCCTCCCAAAGCGTGAGGCTTACAGGCATGAGCCACTGCACCAGACCACTAATATTTATTCTTAAATGTGCAGCAAGTTTTCATATACACTAGCCAGCTCTGTGCTTCTCCTGCTAAACATTCCAAAATTATGATGATACTGTGAAGGTACTCTTAGGAAAATATTCCTAAATCAGACTGAGTACCAGATTAGCTCATTTTGAGATATTGTGCATAAACTGTATTTTACTAAATTTCTTCTAAGACAAGCAAGAGGCTGAACTAGCTTGCTATTCTAAGAAAAGTCAGACATTTTCAGTGGTTTTGGAAAAAGTGAAGCTCCTACAACAAAATACTCCTAGATTAAAATCTCTTCTTCTGTATTTACCAACCCGAGTATACAGAATCTTACAGTCAGAGTGTAGCTCTGGGCATGTCCCAGTTGTAAGAAGCTTAAATAATTGGTGTGGTGAGCGAAAGCCAACAACCACTTCCTCTCCTCCCTATGCCCTTGATTAGCCTGGCTCCAACTTCTGCATCCTTTGGCTCTTGAGACTCTGAGGATAAGGGAAGCATTCTTACGCCTAAGACTAGCCCATGGCTGGGCATCTGCAGGGCAATGGGGACAGCTTTAGAGTCCTGAGAGGGCTGGATCAAGAGTAAGGTCACATGGCCAGGTATGGGGGCTCACACCTGTAATCCTAGCACTTTGGGAGGCTGAGGTGGGCAGACTGCCTGAAGTCAGGAGTTCAAGAGCAGCCTGGCCAACATGGCAAAACCCCATCTCTACTAAAAATACATAAATTAGCTGGGTGTGGTGGCGCATGCCTGTAGTCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATCGTTTGAACCTGGGAGGTGGAGGTTGCAGTGAGCCGAGGTCATGCCACTGCACTCCAGGCTGGGCGTCAGAGCAAGACTCTATCCCCGCCCCCCCCCCCAAAAAGAGTAAGGTCACAACGAATAACAAAGGTGTGAGAAGGAAGGGACAGCCAAGAGCAAAGCAAGAAGGCCACGAAAGAAGAGGTGAGCCCTGGGTCCCACTATCATGAAGAATGTAATAGAAGAATGAAATCTATAAGAAAATTCCTGATCAAACAGAAGAGAAACAGACTGCTTCACACTCCTGTCTGTCTTGCAATTAAAGGGAGAATTCACTTGAGAGATGACATAAGAACCAACATTACCTGCTTCTGAAGTGTGGCATCCTTTCCCCTCTCCAGCACCTTAGCAAAAAATATATAAAAACTTTCCTCTCTTGGCTGGAAAATTAATCTGGCCACAAGGGAGCCAAGATTATTCACTATATCATACACACCTACAAAACAAAAAAGAAGAAACAACAATCATGTTGGTTTTTCTATTTTAATTTTTATAGCACTATTAAAATTATTTAATATTTTCATTAAAGTTTGTTTATCTTGAGATAATTATAGATTCACACAGAGTTATAAGAAGTAATAGTGGCCAGGCACGGTGGCTCATGCCTATAATCCCAGCACTTTGGGAGGCCAGGGTGGGTGGACTGCTTGAGCCAGGGAGTTTGAGATGAGCCTGGGAAACACGGAAAAACCCTGTCTCTACAAAAATGGAAAAATTTAGCCAGGCGTGGTGGTGTGCATTTGTAGTCCCAGTTATTTGGGAGGCTGAGGTGGGAGGATCACCCAAGCCCAGGAGGTTGAGGCTGCAGTGAGCTGTGATGGTACCACTGCACTCCAGCCTGGGCAATAGAATGAGACCCTGTCTCAAAAAATAAAAAATAAATAAAAAAGACAAAAAAATAGGAAGTAATAGAGGGATCCCATATATACCCTTTACCCAGTGGTAACATTTTGTAAAACTATAGTACAATATCACAACCAGGATACCAACGATGATACAGTCAAGATACAGAATGCTTCCATCAACAGTACTTTCTTATACAGGTCATTAATGCAAAGTTGATGTTTTTCTATTTGATTTCAGTTACTTTGGGATTACATTAAAAGATAAAAATGAAAATACTGAAAGACTATCTAGCCACACAAACATGGGGCAGATTTTTGTGGCTGTGACAGTGAGCTCCCTTTTCTCCTCTCTTGGCACCTCCCACCTCCCAAAATGAACACCAGAGCTCTCAGGAGGCAAAATAGAGGGCCGGGGTCTCACCAGAATACCTGACACCAAAGTCATGTTGGAGGGCATAGTCAGTACAAAGACCTACAATTTACAATCTTCAGGATTTTCTTTAATCTTCAGGTTCATCTTTCATTAAATATATCAGAGAAAAATATTAGGAAGTATCTATTAATAGTGTTCACCTTTAATTAAAACACTACAGAATTTCATCTTACCCTGATCACCAAAGTTCAATACATTCAAAAATGTCATCACATATCGCTCGCCTATAAACAAAAAAGCAAAATAATTAGCAATGTCAAATGCACATTACTTTATTGTTTCCTTTCTCTCACCAGCTATCAACTTTTCCAGCTGACAAATAAAGGAGAAATACTAGGTAATCAGTTAAAGACATGTCCTTGTCCTAATGTTGATTTCAAATAATCTCAGAGTAACAATTTGGAAAGTGCTGAGGACTTTATTGACAGCAAATCTCCAAGCCAGTTAAATTACAAATAAAAAAAAATAAAAATAAAACAAGTCTAAAAAGGTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCACCCAGGCTGGAGTACAGTGGCACGATTTCGGCTCCCTGCAAGCTCTGCCTTCTGGGTTCATGCCATTCTCCTGCCTCAGTCTCCCGAGCAGCTGGGACTACAGGCGCCCGCCACCGCACCCGGCTAATTTTTTTTGTATTTTTAGTAGAGATGGGGTTTCACTGTGTTAGCCAGGATGGTCTCGATCTCCTGACCTCGTGATCTGCCCACCTCAGCCTCCCAAAGTGCTGGGATTACAGGCGTAAGCCACCACGCCCAGCCCTAAAAATAAGTTTTTAAAAAAGTATGTGGAGATTATTAAATGTTAATAATGAAGATGATAGTCCCAAGTCTTAAGGGGAGGTCAGATAATCTGAGCGTAAATTATCTGTGAAGAGTCCATGATTATATGCACAAGCTTATCCAAAGGTTCCTCAGGGGTGGAGACAGCTCCCTGGGGGCTGGCAAGGCATTAGACTGTCTTAGATTTGAATCATGAACTCACGTCTGAGTTCATGATTCAAATTTAAGACAGTCTAATGCCTTCAAGGTGAAGACACCAGCCAGGGCCCCCATCCCCTTGGCTTTCATGAAGTTTCTCATCTATGAAGAAAAAGTGTTGACCACTATGGAAAA
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Task1_train_7084
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Here is a genetic alteration in RFT1 (RFT1 glycolipid translocator homolog) on Chromosome 3. Based on the data, is it a benign variant or a cause of disease?
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Pathogenic; RFT1-congenital disorder of glycosylation
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CCAACAGCAAGGAGAAGTCCTAATAACTTCTCCAAGTGAGGCTGGGGAAGCTGATTGTCCTGGCGCCAACGCCCCTGCCTATACCTTGAGTGTGTGTCTGGAGTTGAACGAGGGGAACAGTCCCACAGCCCCTGCCACCAGACAGTTTTCCCTACACTGACACAGATAACAACTGTGTGTGCACAAGTTCTTGAATTTCGTGACTCTTCTATTTATGTTGGGAAATCAGAAAAAATCCAGAAAAACTCTTGTGCGTACCGGATCCTGAGCTAAGCATGGTCCCTCCGTAGATATCCAGAGCCAGCTGAGAATAGGCAAAGCCAAAAACAGTGATGGTCAGGCCGGCCAGCAGGGCCAGCTTGAGCAGGGACTCCAAGACTGCAGCAGCCACAGCAACGTCCTCCTGGGGCCAGGGAAGAGGGAAGGAAGTTGGATGAATCATGAGCTGAAGAAAACCTTCATCCTTCACGTCTGGCCTTCTCCCTTCACTGTTTTACAGTTCACTCTTCCAACAGCGTGATGGATATCACTATTTTTTTGTAGTGTGTTTGTTTTCACGTCAGTTAGCAAATGAAGGAAAAAGTGTGTGTCTCCTTAGGTCGTAAGGGGGAGGGTTAGTTTTCAATTCACTTGGGATAAATTGTTTCAAATATTGCTTAGGAAACACTCACTTTCCCCTCTGATATTTGTTCTTTTTTTTTTTTTTAAATAGAAATAGAGAAGGGAGTCTCACTATGTTGACCAGGCTAATCTCAAACTCCTGGCCTCAAGCAATCCTCCTGCCTTGGCCTCCCAAAGCGTGAGGCTTACAGGCATGAGCCACTGCACCAGACCACTAATATTTATTCTTAAATGTGCAGCAAGTTTTCATATACACTAGCCAGCTCTGTGCTTCTCCTGCTAAACATTCCAAAATTATGATGATACTGTGAAGGTACTCTTAGGAAAATATTCCTAAATCAGACTGAGTACCAGATTAGCTCATTTTGAGATATTGTGCATAAACTGTATTTTACTAAATTTCTTCTAAGACAAGCAAGAGGCTGAACTAGCTTGCTATTCTAAGAAAAGTCAGACATTTTCAGTGGTTTTGGAAAAAGTGAAGCTCCTACAACAAAATACTCCTAGATTAAAATCTCTTCTTCTGTATTTACCAACCCGAGTATACAGAATCTTACAGTCAGAGTGTAGCTCTGGGCATGTCCCAGTTGTAAGAAGCTTAAATAATTGGTGTGGTGAGCGAAAGCCAACAACCACTTCCTCTCCTCCCTATGCCCTTGATTAGCCTGGCTCCAACTTCTGCATCCTTTGGCTCTTGAGACTCTGAGGATAAGGGAAGCATTCTTACGCCTAAGACTAGCCCATGGCTGGGCATCTGCAGGGCAATGGGGACAGCTTTAGAGTCCTGAGAGGGCTGGATCAAGAGTAAGGTCACATGGCCAGGTATGGGGGCTCACACCTGTAATCCTAGCACTTTGGGAGGCTGAGGTGGGCAGACTGCCTGAAGTCAGGAGTTCAAGAGCAGCCTGGCCAACATGGCAAAACCCCATCTCTACTAAAAATACATAAATTAGCTGGGTGTGGTGGCGCATGCCTGTAGTCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATCGTTTGAACCTGGGAGGTGGAGGTTGCAGTGAGCCGAGGTCATGCCACTGCACTCCAGGCTGGGCGTCAGAGCAAGACTCTATCCCCGCCCCCCCCCCCAAAAAGAGTAAGGTCACAACGAATAACAAAGGTGTGAGAAGGAAGGGACAGCCAAGAGCAAAGCAAGAAGGCCACGAAAGAAGAGGTGAGCCCTGGGTCCCACTATCATGAAGAATGTAATAGAAGAATGAAATCTATAAGAAAATTCCTGATCAAACAGAAGAGAAACAGACTGCTTCACACTCCTGTCTGTCTTGCAATTAAAGGGAGAATTCACTTGAGAGATGACATAAGAACCAACATTACCTGCTTCTGAAGTGTGGCATCCTTTCCCCTCTCCAGCACCTTAGCAAAAAATATATAAAAACTTTCCTCTATTGGCTGGAAAATTAATCTGGCCACAAGGGAGCCAAGATTATTCACTATATCATACACACCTACAAAACAAAAAAGAAGAAACAACAATCATGTTGGTTTTTCTATTTTAATTTTTATAGCACTATTAAAATTATTTAATATTTTCATTAAAGTTTGTTTATCTTGAGATAATTATAGATTCACACAGAGTTATAAGAAGTAATAGTGGCCAGGCACGGTGGCTCATGCCTATAATCCCAGCACTTTGGGAGGCCAGGGTGGGTGGACTGCTTGAGCCAGGGAGTTTGAGATGAGCCTGGGAAACACGGAAAAACCCTGTCTCTACAAAAATGGAAAAATTTAGCCAGGCGTGGTGGTGTGCATTTGTAGTCCCAGTTATTTGGGAGGCTGAGGTGGGAGGATCACCCAAGCCCAGGAGGTTGAGGCTGCAGTGAGCTGTGATGGTACCACTGCACTCCAGCCTGGGCAATAGAATGAGACCCTGTCTCAAAAAATAAAAAATAAATAAAAAAGACAAAAAAATAGGAAGTAATAGAGGGATCCCATATATACCCTTTACCCAGTGGTAACATTTTGTAAAACTATAGTACAATATCACAACCAGGATACCAACGATGATACAGTCAAGATACAGAATGCTTCCATCAACAGTACTTTCTTATACAGGTCATTAATGCAAAGTTGATGTTTTTCTATTTGATTTCAGTTACTTTGGGATTACATTAAAAGATAAAAATGAAAATACTGAAAGACTATCTAGCCACACAAACATGGGGCAGATTTTTGTGGCTGTGACAGTGAGCTCCCTTTTCTCCTCTCTTGGCACCTCCCACCTCCCAAAATGAACACCAGAGCTCTCAGGAGGCAAAATAGAGGGCCGGGGTCTCACCAGAATACCTGACACCAAAGTCATGTTGGAGGGCATAGTCAGTACAAAGACCTACAATTTACAATCTTCAGGATTTTCTTTAATCTTCAGGTTCATCTTTCATTAAATATATCAGAGAAAAATATTAGGAAGTATCTATTAATAGTGTTCACCTTTAATTAAAACACTACAGAATTTCATCTTACCCTGATCACCAAAGTTCAATACATTCAAAAATGTCATCACATATCGCTCGCCTATAAACAAAAAAGCAAAATAATTAGCAATGTCAAATGCACATTACTTTATTGTTTCCTTTCTCTCACCAGCTATCAACTTTTCCAGCTGACAAATAAAGGAGAAATACTAGGTAATCAGTTAAAGACATGTCCTTGTCCTAATGTTGATTTCAAATAATCTCAGAGTAACAATTTGGAAAGTGCTGAGGACTTTATTGACAGCAAATCTCCAAGCCAGTTAAATTACAAATAAAAAAAAATAAAAATAAAACAAGTCTAAAAAGGTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCACCCAGGCTGGAGTACAGTGGCACGATTTCGGCTCCCTGCAAGCTCTGCCTTCTGGGTTCATGCCATTCTCCTGCCTCAGTCTCCCGAGCAGCTGGGACTACAGGCGCCCGCCACCGCACCCGGCTAATTTTTTTTGTATTTTTAGTAGAGATGGGGTTTCACTGTGTTAGCCAGGATGGTCTCGATCTCCTGACCTCGTGATCTGCCCACCTCAGCCTCCCAAAGTGCTGGGATTACAGGCGTAAGCCACCACGCCCAGCCCTAAAAATAAGTTTTTAAAAAAGTATGTGGAGATTATTAAATGTTAATAATGAAGATGATAGTCCCAAGTCTTAAGGGGAGGTCAGATAATCTGAGCGTAAATTATCTGTGAAGAGTCCATGATTATATGCACAAGCTTATCCAAAGGTTCCTCAGGGGTGGAGACAGCTCCCTGGGGGCTGGCAAGGCATTAGACTGTCTTAGATTTGAATCATGAACTCACGTCTGAGTTCATGATTCAAATTTAAGACAGTCTAATGCCTTCAAGGTGAAGACACCAGCCAGGGCCCCCATCCCCTTGGCTTTCATGAAGTTTCTCATCTATGAAGAAAAAGTGTTGACCACTATGGAAAA
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CCAACAGCAAGGAGAAGTCCTAATAACTTCTCCAAGTGAGGCTGGGGAAGCTGATTGTCCTGGCGCCAACGCCCCTGCCTATACCTTGAGTGTGTGTCTGGAGTTGAACGAGGGGAACAGTCCCACAGCCCCTGCCACCAGACAGTTTTCCCTACACTGACACAGATAACAACTGTGTGTGCACAAGTTCTTGAATTTCGTGACTCTTCTATTTATGTTGGGAAATCAGAAAAAATCCAGAAAAACTCTTGTGCGTACCGGATCCTGAGCTAAGCATGGTCCCTCCGTAGATATCCAGAGCCAGCTGAGAATAGGCAAAGCCAAAAACAGTGATGGTCAGGCCGGCCAGCAGGGCCAGCTTGAGCAGGGACTCCAAGACTGCAGCAGCCACAGCAACGTCCTCCTGGGGCCAGGGAAGAGGGAAGGAAGTTGGATGAATCATGAGCTGAAGAAAACCTTCATCCTTCACGTCTGGCCTTCTCCCTTCACTGTTTTACAGTTCACTCTTCCAACAGCGTGATGGATATCACTATTTTTTTGTAGTGTGTTTGTTTTCACGTCAGTTAGCAAATGAAGGAAAAAGTGTGTGTCTCCTTAGGTCGTAAGGGGGAGGGTTAGTTTTCAATTCACTTGGGATAAATTGTTTCAAATATTGCTTAGGAAACACTCACTTTCCCCTCTGATATTTGTTCTTTTTTTTTTTTTTAAATAGAAATAGAGAAGGGAGTCTCACTATGTTGACCAGGCTAATCTCAAACTCCTGGCCTCAAGCAATCCTCCTGCCTTGGCCTCCCAAAGCGTGAGGCTTACAGGCATGAGCCACTGCACCAGACCACTAATATTTATTCTTAAATGTGCAGCAAGTTTTCATATACACTAGCCAGCTCTGTGCTTCTCCTGCTAAACATTCCAAAATTATGATGATACTGTGAAGGTACTCTTAGGAAAATATTCCTAAATCAGACTGAGTACCAGATTAGCTCATTTTGAGATATTGTGCATAAACTGTATTTTACTAAATTTCTTCTAAGACAAGCAAGAGGCTGAACTAGCTTGCTATTCTAAGAAAAGTCAGACATTTTCAGTGGTTTTGGAAAAAGTGAAGCTCCTACAACAAAATACTCCTAGATTAAAATCTCTTCTTCTGTATTTACCAACCCGAGTATACAGAATCTTACAGTCAGAGTGTAGCTCTGGGCATGTCCCAGTTGTAAGAAGCTTAAATAATTGGTGTGGTGAGCGAAAGCCAACAACCACTTCCTCTCCTCCCTATGCCCTTGATTAGCCTGGCTCCAACTTCTGCATCCTTTGGCTCTTGAGACTCTGAGGATAAGGGAAGCATTCTTACGCCTAAGACTAGCCCATGGCTGGGCATCTGCAGGGCAATGGGGACAGCTTTAGAGTCCTGAGAGGGCTGGATCAAGAGTAAGGTCACATGGCCAGGTATGGGGGCTCACACCTGTAATCCTAGCACTTTGGGAGGCTGAGGTGGGCAGACTGCCTGAAGTCAGGAGTTCAAGAGCAGCCTGGCCAACATGGCAAAACCCCATCTCTACTAAAAATACATAAATTAGCTGGGTGTGGTGGCGCATGCCTGTAGTCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATCGTTTGAACCTGGGAGGTGGAGGTTGCAGTGAGCCGAGGTCATGCCACTGCACTCCAGGCTGGGCGTCAGAGCAAGACTCTATCCCCGCCCCCCCCCCCAAAAAGAGTAAGGTCACAACGAATAACAAAGGTGTGAGAAGGAAGGGACAGCCAAGAGCAAAGCAAGAAGGCCACGAAAGAAGAGGTGAGCCCTGGGTCCCACTATCATGAAGAATGTAATAGAAGAATGAAATCTATAAGAAAATTCCTGATCAAACAGAAGAGAAACAGACTGCTTCACACTCCTGTCTGTCTTGCAATTAAAGGGAGAATTCACTTGAGAGATGACATAAGAACCAACATTACCTGCTTCTGAAGTGTGGCATCCTTTCCCCTCTCCAGCACCTTAGCAAAAAATATATAAAAACTTTCCTCTTTTGGCTGGAAAATTAATCTGGCCACAAGGGAGCCAAGATTATTCACTATATCATACACACCTACAAAACAAAAAAGAAGAAACAACAATCATGTTGGTTTTTCTATTTTAATTTTTATAGCACTATTAAAATTATTTAATATTTTCATTAAAGTTTGTTTATCTTGAGATAATTATAGATTCACACAGAGTTATAAGAAGTAATAGTGGCCAGGCACGGTGGCTCATGCCTATAATCCCAGCACTTTGGGAGGCCAGGGTGGGTGGACTGCTTGAGCCAGGGAGTTTGAGATGAGCCTGGGAAACACGGAAAAACCCTGTCTCTACAAAAATGGAAAAATTTAGCCAGGCGTGGTGGTGTGCATTTGTAGTCCCAGTTATTTGGGAGGCTGAGGTGGGAGGATCACCCAAGCCCAGGAGGTTGAGGCTGCAGTGAGCTGTGATGGTACCACTGCACTCCAGCCTGGGCAATAGAATGAGACCCTGTCTCAAAAAATAAAAAATAAATAAAAAAGACAAAAAAATAGGAAGTAATAGAGGGATCCCATATATACCCTTTACCCAGTGGTAACATTTTGTAAAACTATAGTACAATATCACAACCAGGATACCAACGATGATACAGTCAAGATACAGAATGCTTCCATCAACAGTACTTTCTTATACAGGTCATTAATGCAAAGTTGATGTTTTTCTATTTGATTTCAGTTACTTTGGGATTACATTAAAAGATAAAAATGAAAATACTGAAAGACTATCTAGCCACACAAACATGGGGCAGATTTTTGTGGCTGTGACAGTGAGCTCCCTTTTCTCCTCTCTTGGCACCTCCCACCTCCCAAAATGAACACCAGAGCTCTCAGGAGGCAAAATAGAGGGCCGGGGTCTCACCAGAATACCTGACACCAAAGTCATGTTGGAGGGCATAGTCAGTACAAAGACCTACAATTTACAATCTTCAGGATTTTCTTTAATCTTCAGGTTCATCTTTCATTAAATATATCAGAGAAAAATATTAGGAAGTATCTATTAATAGTGTTCACCTTTAATTAAAACACTACAGAATTTCATCTTACCCTGATCACCAAAGTTCAATACATTCAAAAATGTCATCACATATCGCTCGCCTATAAACAAAAAAGCAAAATAATTAGCAATGTCAAATGCACATTACTTTATTGTTTCCTTTCTCTCACCAGCTATCAACTTTTCCAGCTGACAAATAAAGGAGAAATACTAGGTAATCAGTTAAAGACATGTCCTTGTCCTAATGTTGATTTCAAATAATCTCAGAGTAACAATTTGGAAAGTGCTGAGGACTTTATTGACAGCAAATCTCCAAGCCAGTTAAATTACAAATAAAAAAAAATAAAAATAAAACAAGTCTAAAAAGGTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCACCCAGGCTGGAGTACAGTGGCACGATTTCGGCTCCCTGCAAGCTCTGCCTTCTGGGTTCATGCCATTCTCCTGCCTCAGTCTCCCGAGCAGCTGGGACTACAGGCGCCCGCCACCGCACCCGGCTAATTTTTTTTGTATTTTTAGTAGAGATGGGGTTTCACTGTGTTAGCCAGGATGGTCTCGATCTCCTGACCTCGTGATCTGCCCACCTCAGCCTCCCAAAGTGCTGGGATTACAGGCGTAAGCCACCACGCCCAGCCCTAAAAATAAGTTTTTAAAAAAGTATGTGGAGATTATTAAATGTTAATAATGAAGATGATAGTCCCAAGTCTTAAGGGGAGGTCAGATAATCTGAGCGTAAATTATCTGTGAAGAGTCCATGATTATATGCACAAGCTTATCCAAAGGTTCCTCAGGGGTGGAGACAGCTCCCTGGGGGCTGGCAAGGCATTAGACTGTCTTAGATTTGAATCATGAACTCACGTCTGAGTTCATGATTCAAATTTAAGACAGTCTAATGCCTTCAAGGTGAAGACACCAGCCAGGGCCCCCATCCCCTTGGCTTTCATGAAGTTTCTCATCTATGAAGAAAAAGTGTTGACCACTATGGAAAA
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Task1_train_7085
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A variant found in Chromosome 3 affects RFT1 (RFT1 glycolipid translocator homolog). Please analyze its biological impact: is it benign or pathogenic, and what condition might it cause?
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Pathogenic; RFT1-congenital disorder of glycosylation
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TTCCAGCCTGGGTGACAGAGTGAGACCCTATCTACAAAAACAAAAAACAAAAAACAAAAAAAACCACCAGGGATTTCAACTTTTTTAGAGCTGTAGTTTTAAAAATATATCGAATCTGAGGATCTCAGTCAGGCAACTTCCTTATTTCACAGCCAAGGAGATGGAGGCCCTGAGAAGTTCCTAATGGCACTCTGCCAGTCAGGGAGTCAGGCTAGGGGGATCCAACCATGGAGCAGGCTCCTGGCACCACATTCAGGTCGAGCTCTGGAGGCTTTAGTTTGCAGTAAACTTAAACCAGCTGCTGCAAAGACATGTCTAGAGACATGTGTTGTCTGCAATCCAGAAAACCAATTTAGGGCCATCACTTGGACTGGATCCATTCCTTCAAACTTATTAAAACTGCTCTTAAAACCTTGGAAGGAAAAAAATGCATATGAGCAACCGTCCTTTCCAAAACTCACTCCACCGATTTTCCTGTTCTTACAACAATGTGAACTATCATCATACACATTTCACAATAGTTACGTTGTTGCTTTTCTTACCCCATTCACAAATACATGCTGAATAGCCCTCCTGTACCAGGCCACAGGGAGGCAGTAGTGAACGGCACAGTCTCTGCTCCCCAGGAGCTAAGTGCTCAGGCCCTTCACTCAGCTCTTCTGAGGCTTCTGACCCTCCCTTCCCCGAGAAGGCCTCGGAACGGTTTCATTTTTGTAATAGCAAAGTTATAAGGTTAGGCTGGAAACGTGTGTACTCTCAAAGATCAGAGAGCCCTCAGACACTGCCTGGTCCTATCCCTTATTCACAGATGGGGAAAGCGAGGCATAGGGGGAGTTGCTTTCTTTTGGAGACATAATAAACAAAAAATACAGATGGGGGGGAAATAAAATAACAAGATAATAACAGTTGTATTAGAATGCTAGTATTATTTTTTCTATTTTCTTATTTTTTTCTAACGGGACTATATTTTATAATTAAAAGAAAATTTTTGAAAAGATTAAAAATACATTCAGTAATAGGTATATGGATATGAAATATATATGAAGAGAGAAACTACTACCTTCAGCAACTTACAGCTGTCTTAAATCTCACTTTTTAAATTAAAGCTGGGTATAAGTAAACCAACACATATACATACAAAAACTAAATGTGCTTCCAGCCCCTTGCTGGCCCTCCACATTGAGAGCTCTGTCGTAGGTAAACTGAAAGGACCAAAGTCTGACCAAACTCTCATACAAGTGCATTTTGTTGTTTAAGAAAATAAATCCAGGATTAGGGAATTGACATAATTTTTAAAAAGAAGAAGAAGAAAATAAAATGATATAAATAAATGATATAAAATGATAAAAAGGCTGGGTGTGGTGGCTCGCGCCTGTAATCCCAGCACTCTGAGGCAGGCGGATCACAAGGTCAGGAGATCGAGACCATCCTGGCTAACACGGTGAAACTCCGTCTCTACTAAAAATACAAAAAAATTAGCTGGGTGTGGTGGTGGGCACCTATAGTCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATTGCATGAATCTGGGAGGTGGAGCTTGCAGTGAGCCAAGATAGCACCACTGTACTCCAGCTTGGGCGACGGAGCAAGACTCCATCTCAAAAAAAAAAAAATGATAAAAATACTTTTATGTAACTGATATAATACTTTCATAATAAATTCATAAAAATCATATAACATGGGGTTTTGGAGTTAGACCTGGATCCCAGTTAAGCTGTTCCTTGTTACTATAAAACCCTAAAGAAATTCTGCAACCTCACTGACCCTTAGTTTCCTCATCCATGATGAAGGGGAACAATATGTTTCTTATAAGGCTGTGGAGAGATTTAAATTAGACCACTAAGTAAAGCATCAAACTAAACAGACGTTGGTTTCTCTCTCCGTATTAAGCCCCCTCCTCCCATTTCTGAAATTCTTCTGCCCCAGAGGCTCTGGACAGGTGGTCTGGACCCAGGTAATTGGCAGTCCTATGAAATCCCCTTCTACTATGGTCTCCCGACGATTCAGAGTGACCGTCTACTTACCTTCTGTCAAAATCTGTTTCAAGAAAGACTGTTTGAAAAAACTCCAAGTCAGTTTAGCCTCTTTCCAGTTTATAAACGCCTAGAAGAGAAAACAAAACAAAACAAAAACATCACAGGCGTTGCAAGTCTAAGAATGCAATGCTACATGAGAGGCAAATGCAATCTGGTCTCTAAATCCCAACTTGGATAGTCTCCACTGAATCCTCATCCAATGCTAAGCACACAGAAGGCATCTCACAAACACTGGAGAAGAATTTACATTACTAAACACAAAGCCAAAGTCTGTAAGGGCCTGCCCAAGACTCATATACTGAGACCCCTAAAGAATTGCTGCTGTCCCTTGGGGGCCCACACAGTACACTGACCACAGCTAACACGTACAGCTCACAGTTTGTTCTTTCCTTAAAAACTGTCTAAAGCATGCCAGGCTGCAGAAGAAATTCTGCTCCATATACTGCACATTGTAATGCTATGTTCAGCCATCCAGGGCCCTTTTACACAAAGTATAGGAGCTGCCCTTCTGCATTACAAAAGAAATTTAGCCTTCGCAGGTCAGGTAAACCACTCAGAATGGGTATGACAGAGGAACGGAGAAAATAAAATTTCTGATATGACTCTTCTAAAACTCCAGGCCAGGCGAGGTTGCTCACGCCTATAATCACAACACTTTGGGAAGCTGAGGTGGGTGGATCACTTGAGGCCAGGAGTTTGAGACCAGCTTGGCCAACATGGCAAAAACCCCATCTCTACTAAAAATACAAAAATTAGCTGGGCGTGGTGCTACGTGTCTGTAATCTCAACTACTTGGGAGGCTGTGGCACAAGAATCGTTTGAACCTGGAAGGCAGAGGTTGCAGTGAGCCAAGATGGCACCACTGAACTTCAGCCTGGATGACAGAGCGAAAATCTGGCTCAAAAATAAATAAATAAATAAAACTCCCAGCGGCACCAAATGGCCCATTTCCTAAGGACAAGGAAACACTTAGGTAGGGTAGAGGTCAACCTATTAAGAGACAGGTGGCCTCAAAGCCAGGGAGCTGAGCACAAAATGGAAGAGCAAGGCAGCCAGGGAGCTCGGTATCCTCTGACTCCTGTTTTTCTACCTCCCACAGTTCTCTCTGGGGCCCCCTCCTCTATCTTGTAGGCACCCTGGGATCCCAGAATATTTAGACTAGGTGTTTGGTTTTTTGTTTTGTTTTGTTTTAGAAACAGGGTCTCACTCTATCACCCAGGTTGGAATGCAGTGGCATGATCATAGCTCACTATAACCTCAAACTCCTGGGCTCAAGCCATCTTCCCCCCTCAGCCTCCAGAATAGCCGGGACTACAGGTGTGTGCCACCATGCCTGGCTCATTTTTAAAATTTTTGTAGAGATGAGGGTCTTGCTGCATTGCCCAGGCTGGTCTCAAACTCCTGGCTCAAGCAATCCTCCCACCTCGGCTCCCAAAGTACTGGGATTCCAGGCATGAGCCACCATGCCTGGTTGATGTTAGGTTCTTAATCCTAGGGTACTTGCATTTTGAAAAGTAGTGATTATCCAAAGTGATTACTTCTCAATGGTAGGATTTCAGAGGGCTTTTTGGGAGGGGAGGGCTGAATTACAAAGGCCAAGCCCACTCTACCTCTCCAAAAGGTCAGCCACAGCTCTGGAAGTGGGCCCAAGGGCAGGCCTGGAACCTGTCTCAGTCATGTGGGCCCCTGTTCTGGGCAGAAAGCCCATCCGTGAAGAGCAATGCTATCCAGTAGAAATGTAATGTTAAATTTTCTAGCAGCCACAGTGCACAGGAAAAAGAAACAAGTGAAATTAATTTTAATATATTTTATTTAACCAAAATATTATCATTTCAACAAGTAATCCCTGTAAAAAATATTTTTTTTCATATTAAGACTTTGAAATCCAATATGTATTTTGCATTTATGACTCATCTGAATTCAGACTAGCCATATTCCAGAATGCTCTATAGCCACATGTGGCTGGTGGCTAACATTTGGGACAGGGCAAGCCTAGAGCACCTCTGAAAGCAAGGATCACTTCTAGCCCCCATTCT
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TTCCAGCCTGGGTGACAGAGTGAGACCCTATCTACAAAAACAAAAAACAAAAAACAAAAAAAACCACCAGGGATTTCAACTTTTTTAGAGCTGTAGTTTTAAAAATATATCGAATCTGAGGATCTCAGTCAGGCAACTTCCTTATTTCACAGCCAAGGAGATGGAGGCCCTGAGAAGTTCCTAATGGCACTCTGCCAGTCAGGGAGTCAGGCTAGGGGGATCCAACCATGGAGCAGGCTCCTGGCACCACATTCAGGTCGAGCTCTGGAGGCTTTAGTTTGCAGTAAACTTAAACCAGCTGCTGCAAAGACATGTCTAGAGACATGTGTTGTCTGCAATCCAGAAAACCAATTTAGGGCCATCACTTGGACTGGATCCATTCCTTCAAACTTATTAAAACTGCTCTTAAAACCTTGGAAGGAAAAAAATGCATATGAGCAACCGTCCTTTCCAAAACTCACTCCACCGATTTTCCTGTTCTTACAACAATGTGAACTATCATCATACACATTTCACAATAGTTACGTTGTTGCTTTTCTTACCCCATTCACAAATACATGCTGAATAGCCCTCCTGTACCAGGCCACAGGGAGGCAGTAGTGAACGGCACAGTCTCTGCTCCCCAGGAGCTAAGTGCTCAGGCCCTTCACTCAGCTCTTCTGAGGCTTCTGACCCTCCCTTCCCCGAGAAGGCCTCGGAACGGTTTCATTTTTGTAATAGCAAAGTTATAAGGTTAGGCTGGAAACGTGTGTACTCTCAAAGATCAGAGAGCCCTCAGACACTGCCTGGTCCTATCCCTTATTCACAGATGGGGAAAGCGAGGCATAGGGGGAGTTGCTTTCTTTTGGAGACATAATAAACAAAAAATACAGATGGGGGGGAAATAAAATAACAAGATAATAACAGTTGTATTAGAATGCTAGTATTATTTTTTCTATTTTCTTATTTTTTTCTAACGGGACTATATTTTATAATTAAAAGAAAATTTTTGAAAAGATTAAAAATACATTCAGTAATAGGTATATGGATATGAAATATATATGAAGAGAGAAACTACTACCTTCAGCAACTTACAGCTGTCTTAAATCTCACTTTTTAAATTAAAGCTGGGTATAAGTAAACCAACACATATACATACAAAAACTAAATGTGCTTCCAGCCCCTTGCTGGCCCTCCACATTGAGAGCTCTGTCGTAGGTAAACTGAAAGGACCAAAGTCTGACCAAACTCTCATACAAGTGCATTTTGTTGTTTAAGAAAATAAATCCAGGATTAGGGAATTGACATAATTTTTAAAAAGAAGAAGAAGAAAATAAAATGATATAAATAAATGATATAAAATGATAAAAAGGCTGGGTGTGGTGGCTCGCGCCTGTAATCCCAGCACTCTGAGGCAGGCGGATCACAAGGTCAGGAGATCGAGACCATCCTGGCTAACACGGTGAAACTCCGTCTCTACTAAAAATACAAAAAAATTAGCTGGGTGTGGTGGTGGGCACCTATAGTCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATTGCATGAATCTGGGAGGTGGAGCTTGCAGTGAGCCAAGATAGCACCACTGTACTCCAGCTTGGGCGACGGAGCAAGACTCCATCTCAAAAAAAAAAAAATGATAAAAATACTTTTATGTAACTGATATAATACTTTCATAATAAATTCATAAAAATCATATAACATGGGGTTTTGGAGTTAGACCTGGATCCCAGTTAAGCTGTTCCTTGTTACTATAAAACCCTAAAGAAATTCTGCAACCTCACTGACCCTTAGTTTCCTCATCCATGATGAAGGGGAACAATATGTTTCTTATAAGGCTGTGGAGAGATTTAAATTAGACCACTAAGTAAAGCATCAAACTAAACAGACGTTGGTTTCTCTCTCCGTATTAAGCCCCCTCCTCCCATTTCTGAAATTCTTCTGCCCCAGAGGCTCTGGACAGGTGGTCTGGACCCAGGTAATTGGCAGTCCTATGAAATCCCCTTCTACTATGGTCTCCCGACGATTCAGAGTGACCGTCTACTTACTTTCTGTCAAAATCTGTTTCAAGAAAGACTGTTTGAAAAAACTCCAAGTCAGTTTAGCCTCTTTCCAGTTTATAAACGCCTAGAAGAGAAAACAAAACAAAACAAAAACATCACAGGCGTTGCAAGTCTAAGAATGCAATGCTACATGAGAGGCAAATGCAATCTGGTCTCTAAATCCCAACTTGGATAGTCTCCACTGAATCCTCATCCAATGCTAAGCACACAGAAGGCATCTCACAAACACTGGAGAAGAATTTACATTACTAAACACAAAGCCAAAGTCTGTAAGGGCCTGCCCAAGACTCATATACTGAGACCCCTAAAGAATTGCTGCTGTCCCTTGGGGGCCCACACAGTACACTGACCACAGCTAACACGTACAGCTCACAGTTTGTTCTTTCCTTAAAAACTGTCTAAAGCATGCCAGGCTGCAGAAGAAATTCTGCTCCATATACTGCACATTGTAATGCTATGTTCAGCCATCCAGGGCCCTTTTACACAAAGTATAGGAGCTGCCCTTCTGCATTACAAAAGAAATTTAGCCTTCGCAGGTCAGGTAAACCACTCAGAATGGGTATGACAGAGGAACGGAGAAAATAAAATTTCTGATATGACTCTTCTAAAACTCCAGGCCAGGCGAGGTTGCTCACGCCTATAATCACAACACTTTGGGAAGCTGAGGTGGGTGGATCACTTGAGGCCAGGAGTTTGAGACCAGCTTGGCCAACATGGCAAAAACCCCATCTCTACTAAAAATACAAAAATTAGCTGGGCGTGGTGCTACGTGTCTGTAATCTCAACTACTTGGGAGGCTGTGGCACAAGAATCGTTTGAACCTGGAAGGCAGAGGTTGCAGTGAGCCAAGATGGCACCACTGAACTTCAGCCTGGATGACAGAGCGAAAATCTGGCTCAAAAATAAATAAATAAATAAAACTCCCAGCGGCACCAAATGGCCCATTTCCTAAGGACAAGGAAACACTTAGGTAGGGTAGAGGTCAACCTATTAAGAGACAGGTGGCCTCAAAGCCAGGGAGCTGAGCACAAAATGGAAGAGCAAGGCAGCCAGGGAGCTCGGTATCCTCTGACTCCTGTTTTTCTACCTCCCACAGTTCTCTCTGGGGCCCCCTCCTCTATCTTGTAGGCACCCTGGGATCCCAGAATATTTAGACTAGGTGTTTGGTTTTTTGTTTTGTTTTGTTTTAGAAACAGGGTCTCACTCTATCACCCAGGTTGGAATGCAGTGGCATGATCATAGCTCACTATAACCTCAAACTCCTGGGCTCAAGCCATCTTCCCCCCTCAGCCTCCAGAATAGCCGGGACTACAGGTGTGTGCCACCATGCCTGGCTCATTTTTAAAATTTTTGTAGAGATGAGGGTCTTGCTGCATTGCCCAGGCTGGTCTCAAACTCCTGGCTCAAGCAATCCTCCCACCTCGGCTCCCAAAGTACTGGGATTCCAGGCATGAGCCACCATGCCTGGTTGATGTTAGGTTCTTAATCCTAGGGTACTTGCATTTTGAAAAGTAGTGATTATCCAAAGTGATTACTTCTCAATGGTAGGATTTCAGAGGGCTTTTTGGGAGGGGAGGGCTGAATTACAAAGGCCAAGCCCACTCTACCTCTCCAAAAGGTCAGCCACAGCTCTGGAAGTGGGCCCAAGGGCAGGCCTGGAACCTGTCTCAGTCATGTGGGCCCCTGTTCTGGGCAGAAAGCCCATCCGTGAAGAGCAATGCTATCCAGTAGAAATGTAATGTTAAATTTTCTAGCAGCCACAGTGCACAGGAAAAAGAAACAAGTGAAATTAATTTTAATATATTTTATTTAACCAAAATATTATCATTTCAACAAGTAATCCCTGTAAAAAATATTTTTTTTCATATTAAGACTTTGAAATCCAATATGTATTTTGCATTTATGACTCATCTGAATTCAGACTAGCCATATTCCAGAATGCTCTATAGCCACATGTGGCTGGTGGCTAACATTTGGGACAGGGCAAGCCTAGAGCACCTCTGAAAGCAAGGATCACTTCTAGCCCCCATTCT
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Task1_train_7086
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Here is a mutation in PRKCD (protein kinase C delta) on Chromosome 3. Determine whether it’s benign or pathogenic. If the latter, what disease does it cause?
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Pathogenic; Autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD
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TTCCCTCTCCCTAGAAAAGCCAGCCTGGGCTAGAGCGGCAACTGGGGAGATGTGGGGGTAGCCTGGGTCGGCACCACACAGGAAGCCATGGGTGGCAAGTGAACTGCGGCTGGGTGCGCAGCGCAAATACTCTGGGTCCTGGCCGCTCCGTGGGCCACAGCCAGGGCAGCCTTGCAAATGGTGGTCCTGCATGACACAGGACACAGGACCCTGGTGCGTGGCCCCCAGACCTGCTTCTCCCCATTCACATGCCCCTTACCCCAAACTAACCGTGTATGTGTGTGTGTGTGTGTGCATGCATGCAAACACATATGTACATGCATGTAAATGCATACACTCTTAGAGAATTGGCTCACTGAGAGCTTTCCCTTCAGAACTTTCTGCCTGGGCTGCCAGCCCCCACTTGCCTGATACAAGATGTACTTGATCATGCTCAGGTGGTCCATGGAGTTATTTGCAGCATTTCTTGCTCCTGGAAGTGGGGTTGAGGGCCCGAGGAGAAGCAGAGGCTGCTCGGCAGAGATCCCGGAACACTTTATCCCTCTCTCTTGCCCAGGTTTTATGCCGCTGAGATAATGTGTGGACTGCAGTTTCTACACAGCAAGGGCATCATTTACAGGTGCGGGGGTGAGGGCAGCGGGGGCTCTTGGGAGGGGAGGCTCCAGCCCCATCATATCTTCTGAAATGCTCCAAGCAGGATCCCCCCAACTCCAGTTCCTTCTCTGCTGGAAATCAATCTTTAGCTGGGTATTTGCCTATGCCTCCCACCCTGGTGTTAGCATTCCTGTGGCCACCATTTGAGGCTGGCTCAGCTTCAGGAACTAGGAACTCACTGCTCATATTTGACACCATCGCCCCACCCATCCTTGGAGCCGTCAGTCTCGCTCTGAAGCCCCATCGAGTCATCTAAGCTTCTGCCAGAAGGGACTCCTTCCATAAAGTCTCATCTAATAAGTTATGATTCCATCCTATGGTGGGAACTGTACACCCACCAAAAAGGCTGAGGTCAGGCTCTGTATACTGATGTGGGATAATGCCAAGATATGTTGTTAAGTGGAAAAACAACCTGTGGGAAAGTGTATATCGAATATTAGCATTCAGCCTTTAAAACGTGGGAGGGAGACTGAGCGCGATGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGTGGGCAGATCACCCGAGGTCAGGAGTTCGAGACCAGCCTGACCAACATGGTGAAACCCTGTCTCTACTAAAAAATACAAAAGTTAGCTGGGCATGGTGGTGGATGCCTGTAATCTCAGCTACTCAGGAGGCTGAGGCAGGAGAATTGCTTGAACCCGGGAGGCGGAGGTTGCAGTGAGCTGAGATCATGCCACTGCACTCCAGCCTGTGTGACAGAATGAGACTGTGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAGGTGGGAGCGAGCTGCATGCTGCCATATGCTTGTCCACGCCTAGAATTGCTCTAAGGAGAGCCTCATGATTGAGCTCAGTGGAAGGTAGACTTTGTACTGTTTGCCATTTCTAGTTCCCATATGCATTAAGTATATACTCAAATGACTAATTACTAAATATAGACATGGTCTCTGCCTGTGGGAAGTAGACAAACCTGAACCTGGGGGTCACTTCTGCTGCTGACTGCTAGGGGACCCTGGGCGAGTGACATCACCTGTTTGAGCCCCATTTGGGCTTCAGGAAGTAGGGCAGTGTATGCCCAGCGTTTAGCACACAGTAGGGGACTTGCAAGAAGCACCTGTTTTTAGGATCTCTTTCTCCTTCTGCTTCCTTTTCTGTTTCTCATTCCCTTGTACCCTTGGGGACAGTCCTGGACTAATACGGCTGAAAATTAGGACATGGGGGGCAGGGTTGGAAGGAGAAGAAATGTCCCCTGCTGACTCTTACCTGTCCCCTGTCCTTAGGGACCTCAAACTGGACAATGTGCTGCTGGACCGGGATGGCCACATCAAGATTGCCGACTTTGGGATGTGCAAAGAGAACATATTCGGGGAGAGCCGGGCCAGCACCTTCTGCGGCACCCCTGACTATATCGCCCCTGAGGTGAGCCGATACCCTTCCAGCCCCCCGCTCAGTCAGGCACCTTGCCTCCCCACGGTGGGCCAGGGAAGGATTCCCAAGGGCAGTGATGTCCAAGCCAAAGCCCATAGGCTGAGGCGGCCTGGCTAGGCTTCGTGCCCAGGGGCCCCTCTCAGCCTCAGCACCTCAGCTCCTGCTGACCTGCTGCTCTCCCCACCGCCAGATCCTACAGGGCCTGAAGTACACATTCTCTGTGGACTGGTGGTCTTTCGGGGTCCTTCTGTACGAGATGCTCATTGGCCAGTCCCCCTTCCATGGTGATGATGAGGATGAACTCTTCGAGTCCATCCGTGTGGACACGCCACATTATCCCCGCTGGATCACCAAGGAGTCCAAGGACATCCTGGAGAAGGTGGAGGCCCTGGGCTGGGCTGGGCTGGTCTGGGCTGGGCTGGGGCAGGGGCTGGCAGACACTGGGCTTTGGGTGAGGAGCTTCCTGTCTCTGGAATGGCAGCCTCAGTGGTGCTGCAGTCCTAACATACGGGGTATTGCTCTCTCACCATGTTCCCAGGAACTCCTGTCTGAGTCCTGTGCATAGAATCAGCCTGACATGGTGACTAAGGGCCCAGGGTCAGGAGACAGACCCGAGGCCAAATGCTGGCTCTGCCTGGGACTAGCTGGTCACTTAACCTCTCAGAGTTTGTCTCCTTATCTGTAAAATGGGGCTATGAGCAGACTTGACTCACAGAGTTGTTGGGAAGAAAATAGAAACATATGATGCTCAGCTGTGGGCCAGGCAGATAGTAAATAATAAAAAGTTCCACCAGCAGAGTCGCAGATGTCCAGCCCAGAGCCTGTCATCTCCGGGGGAGCTGGGAGCACTGCAGGCCAGAGTGGCCTCCCTCAGCCCCACCGTTCCCCAGGCTGACTGGGGCTGGGGCAAGCCTGGCTTTGCATCCCTGGGCCTGCTGGGGATTTGCTGAAGCTCCAATTTCCCATGGCCCTTGGGTGCTAACCAGGGTCCCTGCTGGGTTGCAGCTCTTTGAAAGGGAACCAACCAAGAGGCTGGGAGTGACCGGAAACATCAAAATCCACCCCTTCTTCAAGACCATAAACTGGACTCTGCTGGAAAAGCGGAGGTTGGAGCCACCTTTCAGGCCCAAAGTGGTATGTGATCCTGCCCTGTGCTGCCTTCAGGCTGAGCTACTCCTCTCCTGCCCTCCCTCTCTCCTGCATCATTCACACGCTTTCCACCTCTCCCTTCTTCCAGCAATCTCCATAGCATGTTCAGTCACAGCCGCTGCCCTTGTATTCTCATCCTCTCCCTCCTGACTCAGTCATTCAGCACACACTGGGGACTGTGGATCCCACTGTATGCAGAGGACCCTGTTTTGGGAAATAGAGTTAAGACCTCACTTTATCGCTCCATTCAATCCATTTTCCAATACATATGGGGAATCCTGAGTCCCTGTTGAATGCAGAGCACAGTGCTGGGCTGCACAGCAAAGTGGGAGATGCAGTCCCAGAACCGGAGGAGCTCTCAGCTAGTTGGAGAGATAAGAAACTTGCACACCTATGACAATTTGTGATACGAGATGACAGTATAAGAGATGCCCCAGGACACATGATCCGTTGCTATTGAGTGGGTCTGTCAGCAGGAACCCAGGTGGCAGAGAAGAGGGTGGGTCTGAGAGGCCCCGTTGGAAGAAGTGAGACAAGGGACAGCTGGGAGGCATTCCAGGTGGAAGAGGGGCTGGTTCACTCACAGGCCCAGAATCTACAGGGCTACCAAGGAACCAGCCTGAGAGCAGAGGCAGGTGGGGCCACTAAGAAATTTGGGGCTGTGTGGCCCCTCTGTGACCACAGTTCTTCCTTCCCACTCCCCTTCTGTCCTTTGATTCCCCTCCTCCACCAGGGCACACAGTTCCCACTGGGCAGCCTGTGTAATGCGCCCCACATTTGTGCTTTGAGGCTACAGAGCACTTCCCCTACACCAGGGACCTCAAACTCAGACGTGTCCTGGCTGAGCATGTAACTGACAGGCT
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TTCCCTCTCCCTAGAAAAGCCAGCCTGGGCTAGAGCGGCAACTGGGGAGATGTGGGGGTAGCCTGGGTCGGCACCACACAGGAAGCCATGGGTGGCAAGTGAACTGCGGCTGGGTGCGCAGCGCAAATACTCTGGGTCCTGGCCGCTCCGTGGGCCACAGCCAGGGCAGCCTTGCAAATGGTGGTCCTGCATGACACAGGACACAGGACCCTGGTGCGTGGCCCCCAGACCTGCTTCTCCCCATTCACATGCCCCTTACCCCAAACTAACCGTGTATGTGTGTGTGTGTGTGTGCATGCATGCAAACACATATGTACATGCATGTAAATGCATACACTCTTAGAGAATTGGCTCACTGAGAGCTTTCCCTTCAGAACTTTCTGCCTGGGCTGCCAGCCCCCACTTGCCTGATACAAGATGTACTTGATCATGCTCAGGTGGTCCATGGAGTTATTTGCAGCATTTCTTGCTCCTGGAAGTGGGGTTGAGGGCCCGAGGAGAAGCAGAGGCTGCTCGGCAGAGATCCCGGAACACTTTATCCCTCTCTCTTGCCCAGGTTTTATGCCGCTGAGATAATGTGTGGACTGCAGTTTCTACACAGCAAGGGCATCATTTACAGGTGCGGGGGTGAGGGCAGCGGGGGCTCTTGGGAGGGGAGGCTCCAGCCCCATCATATCTTCTGAAATGCTCCAAGCAGGATCCCCCCAACTCCAGTTCCTTCTCTGCTGGAAATCAATCTTTAGCTGGGTATTTGCCTATGCCTCCCACCCTGGTGTTAGCATTCCTGTGGCCACCATTTGAGGCTGGCTCAGCTTCAGGAACTAGGAACTCACTGCTCATATTTGACACCATCGCCCCACCCATCCTTGGAGCCGTCAGTCTCGCTCTGAAGCCCCATCGAGTCATCTAAGCTTCTGCCAGAAGGGACTCCTTCCATAAAGTCTCATCTAATAAGTTATGATTCCATCCTATGGTGGGAACTGTACACCCACCAAAAAGGCTGAGGTCAGGCTCTGTATACTGATGTGGGATAATGCCAAGATATGTTGTTAAGTGGAAAAACAACCTGTGGGAAAGTGTATATCGAATATTAGCATTCAGCCTTTAAAACGTGGGAGGGAGACTGAGCGCGATGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGTGGGCAGATCACCCGAGGTCAGGAGTTCGAGACCAGCCTGACCAACATGGTGAAACCCTGTCTCTACTAAAAAATACAAAAGTTAGCTGGGCATGGTGGTGGATGCCTGTAATCTCAGCTACTCAGGAGGCTGAGGCAGGAGAATTGCTTGAACCCGGGAGGCGGAGGTTGCAGTGAGCTGAGATCATGCCACTGCACTCCAGCCTGTGTGACAGAATGAGACTGTGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAGGTGGGAGCGAGCTGCATGCTGCCATATGCTTGTCCACGCCTAGAATTGCTCTAAGGAGAGCCTCATGATTGAGCTCAGTGGAAGGTAGACTTTGTACTGTTTGCCATTTCTAGTTCCCATATGCATTAAGTATATACTCAAATGACTAATTACTAAATATAGACATGGTCTCTGCCTGTGGGAAGTAGACAAACCTGAACCTGGGGGTCACTTCTGCTGCTGACTGCTAGGGGACCCTGGGCGAGTGACATCACCTGTTTGAGCCCCATTTGGGCTTCAGGAAGTAGGGCAGTGTATGCCCAGCGTTTAGCACACAGTAGGGGACTTGCAAGAAGCACCTGTTTTTAGGATCTCTTTCTCCTTCTGCTTCCTTTTCTGTTTCTCATTCCCTTGTACCCTTGGGGACAGTCCTGGACTAATACGGCTGAAAATTAGGACATGGGGGGCAGGGTTGGAAGGAGAAGAAATGTCCCCTGCTGACTCTTACCTGTCCCCTGTCCTTAGGGACCTCAAACTGGACAATGTGCTGCTGGACCGGGATGGCCACATCAAGATTGCCGACTTTGGGATGTGCAAAGAGAACATATTCGGGGAGAGCCGGGCCAGCACCTTCTGCAGCACCCCTGACTATATCGCCCCTGAGGTGAGCCGATACCCTTCCAGCCCCCCGCTCAGTCAGGCACCTTGCCTCCCCACGGTGGGCCAGGGAAGGATTCCCAAGGGCAGTGATGTCCAAGCCAAAGCCCATAGGCTGAGGCGGCCTGGCTAGGCTTCGTGCCCAGGGGCCCCTCTCAGCCTCAGCACCTCAGCTCCTGCTGACCTGCTGCTCTCCCCACCGCCAGATCCTACAGGGCCTGAAGTACACATTCTCTGTGGACTGGTGGTCTTTCGGGGTCCTTCTGTACGAGATGCTCATTGGCCAGTCCCCCTTCCATGGTGATGATGAGGATGAACTCTTCGAGTCCATCCGTGTGGACACGCCACATTATCCCCGCTGGATCACCAAGGAGTCCAAGGACATCCTGGAGAAGGTGGAGGCCCTGGGCTGGGCTGGGCTGGTCTGGGCTGGGCTGGGGCAGGGGCTGGCAGACACTGGGCTTTGGGTGAGGAGCTTCCTGTCTCTGGAATGGCAGCCTCAGTGGTGCTGCAGTCCTAACATACGGGGTATTGCTCTCTCACCATGTTCCCAGGAACTCCTGTCTGAGTCCTGTGCATAGAATCAGCCTGACATGGTGACTAAGGGCCCAGGGTCAGGAGACAGACCCGAGGCCAAATGCTGGCTCTGCCTGGGACTAGCTGGTCACTTAACCTCTCAGAGTTTGTCTCCTTATCTGTAAAATGGGGCTATGAGCAGACTTGACTCACAGAGTTGTTGGGAAGAAAATAGAAACATATGATGCTCAGCTGTGGGCCAGGCAGATAGTAAATAATAAAAAGTTCCACCAGCAGAGTCGCAGATGTCCAGCCCAGAGCCTGTCATCTCCGGGGGAGCTGGGAGCACTGCAGGCCAGAGTGGCCTCCCTCAGCCCCACCGTTCCCCAGGCTGACTGGGGCTGGGGCAAGCCTGGCTTTGCATCCCTGGGCCTGCTGGGGATTTGCTGAAGCTCCAATTTCCCATGGCCCTTGGGTGCTAACCAGGGTCCCTGCTGGGTTGCAGCTCTTTGAAAGGGAACCAACCAAGAGGCTGGGAGTGACCGGAAACATCAAAATCCACCCCTTCTTCAAGACCATAAACTGGACTCTGCTGGAAAAGCGGAGGTTGGAGCCACCTTTCAGGCCCAAAGTGGTATGTGATCCTGCCCTGTGCTGCCTTCAGGCTGAGCTACTCCTCTCCTGCCCTCCCTCTCTCCTGCATCATTCACACGCTTTCCACCTCTCCCTTCTTCCAGCAATCTCCATAGCATGTTCAGTCACAGCCGCTGCCCTTGTATTCTCATCCTCTCCCTCCTGACTCAGTCATTCAGCACACACTGGGGACTGTGGATCCCACTGTATGCAGAGGACCCTGTTTTGGGAAATAGAGTTAAGACCTCACTTTATCGCTCCATTCAATCCATTTTCCAATACATATGGGGAATCCTGAGTCCCTGTTGAATGCAGAGCACAGTGCTGGGCTGCACAGCAAAGTGGGAGATGCAGTCCCAGAACCGGAGGAGCTCTCAGCTAGTTGGAGAGATAAGAAACTTGCACACCTATGACAATTTGTGATACGAGATGACAGTATAAGAGATGCCCCAGGACACATGATCCGTTGCTATTGAGTGGGTCTGTCAGCAGGAACCCAGGTGGCAGAGAAGAGGGTGGGTCTGAGAGGCCCCGTTGGAAGAAGTGAGACAAGGGACAGCTGGGAGGCATTCCAGGTGGAAGAGGGGCTGGTTCACTCACAGGCCCAGAATCTACAGGGCTACCAAGGAACCAGCCTGAGAGCAGAGGCAGGTGGGGCCACTAAGAAATTTGGGGCTGTGTGGCCCCTCTGTGACCACAGTTCTTCCTTCCCACTCCCCTTCTGTCCTTTGATTCCCCTCCTCCACCAGGGCACACAGTTCCCACTGGGCAGCCTGTGTAATGCGCCCCACATTTGTGCTTTGAGGCTACAGAGCACTTCCCCTACACCAGGGACCTCAAACTCAGACGTGTCCTGGCTGAGCATGTAACTGACAGGCT
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Task1_train_7087
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This variant affects the gene TKT (transketolase) found on Chromosome 3. What is the clinical effect of this variant — benign or pathogenic? State the disease if applicable.
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Pathogenic; Transketolase deficiency
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CAGACCGAAGGCAACTTTCCACCAGGTAGACTGGCTGCAGGTGGGCTACTCCCACAGACTGCACCAGGCAGAGGGGCAGGAACCACGCGCACTGGGTCTGTGGCATGCAGCTCCGGGCCTGGACCACAGGGCTCAGCTCATCCTTGCCTGTCTTGGAGAACCCAACTCAGGAGGGTGGAGAGGTGTCAACCGCTGGACCGGCCAGGGCTGCCAGGATTCTCAGCAGAGACAGACTGGCAATCAGTTGACAATGTCTGCCACGTGGCAGTAAGTGGGGTGTGTATTTCGTTTTTTCTTGTCTAACTTCCACAAGCTACACGAACACCAGGGGCAAGGTCAGGAAACACCCCCTGGGGCAGCAAGTGACCAGCTCTGGCCTCCTCTTCTGTTTCCCTTGGGAAGTGATGGCTGCCAGCAGGAGAAAGAACAGCCATGCAACCTACCTTTGTATTGGCGGCTAGTTCCACTGCCTTCTCTGTAGCAACGCCATCACTTGGGTAAAAGACAGTTGATGTGGGGACTGACCGAAACATAGCCAGATCTTCTAGGGCCATCTGGGAGGGCCCGTCTTCCCCTGGGGTGTGGGGGAAAGGATATGCAGAAATAAGACCCCTACCCCCCCATCCATGGGCTGGAATCCTGGCCCATCCCCCTCCCATACCTCCTGGTGCAAAAGTCAAGGGAGCTCCAGGTGTAAACACCCTGGCTAAACTCACCGATGGAAACGCCGCAGTGGGAGCCGCAGAGGTTGATGTTGCTCTCGGAGATGGCGGCCATGCGAATCTGGTCAAAGGCCCGCGTGAAGAAGGCTGCAAAAGTGCTGCAGAAGGGCACCGTCCTGTTGCGGGTGGCACAGCCCACCGCGATGCTCACCTGGGGGCAGGTGGGACAGGGTCAGCCCAAAGGGGCAGGCAGAGGGTGGTCGGGGAGCCTAGGACCCCTTTTGTGGAGAAAGCCACAATTTGTATATAGATTGTCCATCCTTTCTGGGCTTCTGAATATGTCCCCCACCACCTTCTTCTGCAGAGACCGGTCCTCCCAACCCCTCCCTGGGGTCCGAGGGCAGCAGCCTCATGCCTGCTGAGGCTCCAGGCCCCAAATCACTCATCCAGAAGCAGCACTGAGTACAGTCATCAGTTCCAAACCAGCTGCCCTTCAAGGCTCCAAAATCTGCCAGCCAACACAAGGCCTCTTTCCCTAGTACCTGGGACCTCCCCAGCCCCACGCCCTGCAGAGCAGTCTCTGGAAACCACAGAGAGAATTTCAGGTCCAGTTGGAAGAACTCTGGAGATCTGAGTGCCCTCCAGAGAGAGGAAGCTCCCTGTCCCTAGGGGCCTGCAAGCCAGGCTGGGCTCCTGGACCACCAGGAGGGGATATTTTGAAAACATGGACAAAACATTGTTCCTTACTTCACAACCTCAGTTCCTGACAAGGGTCTGCTTCCCCAAATGGGTACATGTCAGGGGCCCAGAGTTCCCTCATCTCTGCATCCCTCAGGGTGGCAGGGCCCAGAGCCGTGTGCATTACAGGTGCTCTACAGACTCGGGCTGCTAAACCCATCACGGCCCCACCTACTGGCCAGGCCTGTCCTCCACCTGGAAGAGACCCCATTCACCACCAGGCCTGGCCTGTACGCAGCTCCTCCTGAGAGCACCTGCAGTCCCATTCGGCTCCCCCATGTGCACACCTGTCCAGGACATTTGCACCTGGGCAGAACCTCCCAAACTGTGGCTGTTCAAGGTCAGGGGTTAACGCTGGGTCCTGGCTTTTCTTATAGTCTCCCTGGGCTGGCCTACAGCAGGCACCTGGCTCTGCCAACATGGCTGCCCCGCACCCCTCAGACCACAGCCCTCAGCCTTGGGTGGACCTGTCCCTGCCGGCCCCAGCACCTACCATGTTCTGCTCAGCAATGTAGCACTCGATGAAGCGGTCCGGGTGCTCCTTTTTGAAGATCTCCGAGAAGGTGGAATTTTTGGTGTCCCCATCCAGGGCGATGATGCGGTCACTGGCATGGCCCAGCTTGGCCAGTGCCTGCCCGTAGGCCTTGCGGGTGGCTATCTGTGAGGAAGAGAGTGGGAAGGCTCTGGACCCCTCTGAGGGTGAGTGCACACCTGCAGCCTGGAGCCCTGCTTTCAGAGAAGGATTAAAACGGGGCCAAAAATGGAAGCCCTGGAGCACAAGGTCCTGCAGAGGCTTTTAACTGCTGAAAGGTTGCCAACGACTACGGTCAATGTCTTGGGAGCCCCTGGAGCCCCGGCCCCTTCTGGCTGTGAAAGGTATAAGCTACAGAAGACACCCACCAGCCCCAACTTCCCGCCTGCTGCACCAGGTCCATGAACCTATTCCACTTTGCATGGGAACACAGAAGGCTTGGGAGTCAAGGCCAGGCACAGGCTGCATGGATGGGTTCCCTTGGGACAGAAACCTGGAGTGGGACAGCTCTGCCTAGCCTTTCCCAGGTCAGGTGGGGGTCCTGAGCTCAGGCCAAGGGTCCCTCGTGGACCAGCGATGCAAGAACTTGGGAGTGAGTCCTTGGCTTTGATCTCAGTTCTGTCAGTAGCTTGCTAAGCTTGCTAAGTGGGCAATTCCCTTGCCCGGTCTGAGCCTCTGCAGGTCAACTCCAGAGATGTCTGTCATTCTGAGGGAAGTGACAGGAACAACACCTCAGGGATCACTCCTCGCCCTAAATGAATCGCTCTCCTCCCTTTCCCAGCCCTCCAGAGGGTGTATCTGGGCCACAGACTTGGGAAACCTGAGAACTATGGGTTCAGAGAAACAGGCCCCACTTTGTACCTTGTCCCCAACTTTGTAGCTGGGCAGGCTGGGCATGCGGATGTTGGCAATGTCCACTGAGGGTGCGTCCTCCTGTGGAGGGGTTGCCAGGATCTTCTTTTTGCTCTGGATCTGGCTGTAGATCTCCTGGATGATCTGCTCAGCCATGTTTTTGGGGAGGGGCTTCCCATGCCAAGACTCCTTATCTTCTACCCCTGCAGACCCAACACGGGAGGACAGAGGAATGGGTAAGACAGAAGCTCCCAGAGGGCCAGGAGGCTGCTCCAGGAGACTGGCCCTCTACCTGCCGAGGGCAAGGGAGGAATGGCATCATCCCAGACAGGCAGAGCCCAGCCAGGCACGGGGGCCAGGAAAGGAGGGTCGCAGTGAATAGGATGGACTCCTACGTGCCCACCACTCACTGTCTACTGCCTGGTCCTTTGGGAGCTCACAGCTGAGTGGGAAAGGAGGGGCCAGACGTGGGCAGGTGTGTGTTTCTGGGCCCACTGCCCCATCCCTTCACCAATGTGTCCATTCTCTTCCTCCCCACAACCCCGCCTGCAGGGTCACACACAGGTAGAGGTGTCTGCTGCAGAAATACTCAGTTTGTCGACTGGGTTGGAAGGGACCCTGGCCATCAGAAGGGGAACCCAAGGCCCAGAACAGGGCTTCCAGGGTCACCCAATGCATCTGTGAGCAGCAGAGGAGTCTATAAGCACCTAGGCATGCCCACCCCATGGCACCTTGTTGTGTGCGGCCAGGAAGGCTGAATATCCCTCTCCCTGGAGGTCACCTCAGTAGTCACTAGAGTCTGGCCAGAGCCAAGAACAGACTGAACTCCCAGGTAGCACCCAGCAGCCCGAAAGACTAGCAGGAGCCCCCAAGAAGCTGCAAGTGGTCCAGATCCTGCCCATTTTTAACACCAGAGGGCAGTGCCAGGCAGCAGCACCAAAGCCATGACAATATCCCAGAGCCCTTTCCTCGACATCCACCCCCTCCCAGACACCTCCCAGCACTGCCAAACCCCCACTCAGAACATCCTCATATACCTGAGTCTACATGGGCAGAACAAGCCACAACCCCTGAGAGCAGGCAGGTGGGCAGCCAGGGGCATTTGGCAGGGAAGCCGACCCAGGCCCTGGGATCAGCCCCCCTCGTGCCATAGACTTCCTCTGTCCCCGGGCAAGTCCCTGACCACTTGTAGTCTCATTTTCCCATCTTTAAAATGGGTGAGGCCATCCCAGGCCTAGGAATCTGAAGCCCACACCTGGGTGCCAGGGAGTGACTTACGCCTGCCTCATTCTCCGGCCTGGGGCAGAACCCA
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CAGACCGAAGGCAACTTTCCACCAGGTAGACTGGCTGCAGGTGGGCTACTCCCACAGACTGCACCAGGCAGAGGGGCAGGAACCACGCGCACTGGGTCTGTGGCATGCAGCTCCGGGCCTGGACCACAGGGCTCAGCTCATCCTTGCCTGTCTTGGAGAACCCAACTCAGGAGGGTGGAGAGGTGTCAACCGCTGGACCGGCCAGGGCTGCCAGGATTCTCAGCAGAGACAGACTGGCAATCAGTTGACAATGTCTGCCACGTGGCAGTAAGTGGGGTGTGTATTTCGTTTTTTCTTGTCTAACTTCCACAAGCTACACGAACACCAGGGGCAAGGTCAGGAAACACCCCCTGGGGCAGCAAGTGACCAGCTCTGGCCTCCTCTTCTGTTTCCCTTGGGAAGTGATGGCTGCCAGCAGGAGAAAGAACAGCCATGCAACCTACCTTTGTATTGGCGGCTAGTTCCACTGCCTTCTCTGTAGCAACGCCATCACTTGGGTAAAAGACAGTTGATGTGGGGACTGACCGAAACATAGCCAGATCTTCTAGGGCCATCTGGGAGGGCCCGTCTTCCCCTGGGGTGTGGGGGAAAGGATATGCAGAAATAAGACCCCTACCCCCCCATCCATGGGCTGGAATCCTGGCCCATCCCCCTCCCATACCTCCTGGTGCAAAAGTCAAGGGAGCTCCAGGTGTAAACACCCTGGCTAAACTCACCGATGGAAACGCCGCAGTGGGAGCCGCAGAGGTTGATGTTGCTCTCGGAGATGGCGGCCATGCGAATCTGGTCAAAGGCCCGCGTGAAGAAGGCTGCAAAAGTGCTGCAGAAGGGCACCGTCCTGTTGCGGGTGGCACAGCCCACCGCGATGCTCACCTGGGGGCAGGTGGGACAGGGTCAGCCCAAAGGGGCAGGCAGAGGGTGGTCGGGGAGCCTAGGACCCCTTTTGTGGAGAAAGCCACAATTTGTATATAGATTGTCCATCCTTTCTGGGCTTCTGAATATGTCCCCCACCACCTTCTTCTGCAGAGACCGGTCCTCCCAACCCCTCCCTGGGGTCCGAGGGCAGCAGCCTCATGCCTGCTGAGGCTCCAGGCCCCAAATCACTCATCCAGAAGCAGCACTGAGTACAGTCATCAGTTCCAAACCAGCTGCCCTTCAAGGCTCCAAAATCTGCCAGCCAACACAAGGCCTCTTTCCCTAGTACCTGGGACCTCCCCAGCCCCACGCCCTGCAGAGCAGTCTCTGGAAACCACAGAGAGAATTTCAGGTCCAGTTGGAAGAACTCTGGAGATCTGAGTGCCCTCCAGAGAGAGGAAGCTCCCTGTCCCTAGGGGCCTGCAAGCCAGGCTGGGCTCCTGGACCACCAGGAGGGGATATTTTGAAAACATGGACAAAACATTGTTCCTTACTTCACAACCTCAGTTCCTGACAAGGGTCTGCTTCCCCAAATGGGTACATGTCAGGGGCCCAGAGTTCCCTCATCTCTGCATCCCTCAGGGTGGCAGGGCCCAGAGCCGTGTGCATTACAGGTGCTCTACAGACTCGGGCTGCTAAACCCATCACGGCCCCACCTACTGGCCAGGCCTGTCCTCCACCTGGAAGAGACCCCATTCACCACCAGGCCTGGCCTGTACGCAGCTCCTCCTGAGAGCACCTGCAGTCCCATTCGGCTCCCCCATGTGCACACCTGTCCAGGACATTTGCACCTGGGCAGAACCTCCCAAACTGTGGCTGTTCAAGGTCAGGGGTTAACGCTGGGTCCTGGCTTTTCTTATAGTCTCCCTGGGCTGGCCTACAGCAGGCACCTGGCTCTGCCAACATGGCTGCCCCGCACCCCTCAGACCACAGCCCTCAGCCTTGGGTGGACCTGTCCCTGCCGGCCCCAGCACCTACCATGTTCTGCTCAGCAATGTAGCACTCGATGAAGCGGTCCGGGTGCTCCTTTTTGAAGATCTCCGAGAAGGTGGAATTTTTGGTGTCCCCATCCAGGGCGATGATGCGGTCACTGGCATGGCCCAGCTTGGCCAGTGCCTGCCCGTAGGCCTTGCAGGTGGCTATCTGTGAGGAAGAGAGTGGGAAGGCTCTGGACCCCTCTGAGGGTGAGTGCACACCTGCAGCCTGGAGCCCTGCTTTCAGAGAAGGATTAAAACGGGGCCAAAAATGGAAGCCCTGGAGCACAAGGTCCTGCAGAGGCTTTTAACTGCTGAAAGGTTGCCAACGACTACGGTCAATGTCTTGGGAGCCCCTGGAGCCCCGGCCCCTTCTGGCTGTGAAAGGTATAAGCTACAGAAGACACCCACCAGCCCCAACTTCCCGCCTGCTGCACCAGGTCCATGAACCTATTCCACTTTGCATGGGAACACAGAAGGCTTGGGAGTCAAGGCCAGGCACAGGCTGCATGGATGGGTTCCCTTGGGACAGAAACCTGGAGTGGGACAGCTCTGCCTAGCCTTTCCCAGGTCAGGTGGGGGTCCTGAGCTCAGGCCAAGGGTCCCTCGTGGACCAGCGATGCAAGAACTTGGGAGTGAGTCCTTGGCTTTGATCTCAGTTCTGTCAGTAGCTTGCTAAGCTTGCTAAGTGGGCAATTCCCTTGCCCGGTCTGAGCCTCTGCAGGTCAACTCCAGAGATGTCTGTCATTCTGAGGGAAGTGACAGGAACAACACCTCAGGGATCACTCCTCGCCCTAAATGAATCGCTCTCCTCCCTTTCCCAGCCCTCCAGAGGGTGTATCTGGGCCACAGACTTGGGAAACCTGAGAACTATGGGTTCAGAGAAACAGGCCCCACTTTGTACCTTGTCCCCAACTTTGTAGCTGGGCAGGCTGGGCATGCGGATGTTGGCAATGTCCACTGAGGGTGCGTCCTCCTGTGGAGGGGTTGCCAGGATCTTCTTTTTGCTCTGGATCTGGCTGTAGATCTCCTGGATGATCTGCTCAGCCATGTTTTTGGGGAGGGGCTTCCCATGCCAAGACTCCTTATCTTCTACCCCTGCAGACCCAACACGGGAGGACAGAGGAATGGGTAAGACAGAAGCTCCCAGAGGGCCAGGAGGCTGCTCCAGGAGACTGGCCCTCTACCTGCCGAGGGCAAGGGAGGAATGGCATCATCCCAGACAGGCAGAGCCCAGCCAGGCACGGGGGCCAGGAAAGGAGGGTCGCAGTGAATAGGATGGACTCCTACGTGCCCACCACTCACTGTCTACTGCCTGGTCCTTTGGGAGCTCACAGCTGAGTGGGAAAGGAGGGGCCAGACGTGGGCAGGTGTGTGTTTCTGGGCCCACTGCCCCATCCCTTCACCAATGTGTCCATTCTCTTCCTCCCCACAACCCCGCCTGCAGGGTCACACACAGGTAGAGGTGTCTGCTGCAGAAATACTCAGTTTGTCGACTGGGTTGGAAGGGACCCTGGCCATCAGAAGGGGAACCCAAGGCCCAGAACAGGGCTTCCAGGGTCACCCAATGCATCTGTGAGCAGCAGAGGAGTCTATAAGCACCTAGGCATGCCCACCCCATGGCACCTTGTTGTGTGCGGCCAGGAAGGCTGAATATCCCTCTCCCTGGAGGTCACCTCAGTAGTCACTAGAGTCTGGCCAGAGCCAAGAACAGACTGAACTCCCAGGTAGCACCCAGCAGCCCGAAAGACTAGCAGGAGCCCCCAAGAAGCTGCAAGTGGTCCAGATCCTGCCCATTTTTAACACCAGAGGGCAGTGCCAGGCAGCAGCACCAAAGCCATGACAATATCCCAGAGCCCTTTCCTCGACATCCACCCCCTCCCAGACACCTCCCAGCACTGCCAAACCCCCACTCAGAACATCCTCATATACCTGAGTCTACATGGGCAGAACAAGCCACAACCCCTGAGAGCAGGCAGGTGGGCAGCCAGGGGCATTTGGCAGGGAAGCCGACCCAGGCCCTGGGATCAGCCCCCCTCGTGCCATAGACTTCCTCTGTCCCCGGGCAAGTCCCTGACCACTTGTAGTCTCATTTTCCCATCTTTAAAATGGGTGAGGCCATCCCAGGCCTAGGAATCTGAAGCCCACACCTGGGTGCCAGGGAGTGACTTACGCCTGCCTCATTCTCCGGCCTGGGGCAGAACCCA
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Task1_train_7088
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The gene CACNA1D (calcium voltage-gated channel subunit alpha1 D), on Chromosome 3, contains a mutation. Does this mutation cause a disorder, or is it a benign change?
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Pathogenic; not provided
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CCTATTTGGCTTCTCGAGGCAAACATTGTGAAATGCACGAGCCTCATTCTGTAAAGTTAAAACCTGGAGCCAGATCATATGCAGGAAAGCACATGCTTAACACCCTAAGGGCTTGCACCTGCAAGGCAAGAGCGATGGCTCTATCCAGACTGTTTGCAGTTCTCATTGGCTGAAAATTCTGGGTGTTGTGGCAGGGTCATACCTTGGGCCATCCATTCTGTCCCCTGACTGGTTCTTAACACCTCCTTCCTGGGAAAGGTGTTTTGCTGAATTTAACATTGACCTGTGCTGCTGGAAAGTTCCATCCAGCTGTGATCCTTAAAGCCCTGTTTGCTCTAGCTTCCTTTGGCCAGGTCTGCCAGGGAGACTGTGTCTGAATGTGCAGCATGAGCTTGTCCGGGAATAGGGGAATGGGGTTCCTCAGGCCACACCCTTTCACCTCTAAACCCAGTCAGCTCACAGCTGGAGCCAGTCTCCCAGGGGGGTCATCTAGATCAAAGCTAAGTGTGGAGAATAAGGGCTGCTTCTCCTTTCTGTGGGTGCAGCTAAGAAAAAGCCCATTCCCCAAAGAGCCCGTGGCTTGTGTCAGCTAGTTGACCTTGAAAAAATTTCTTTTTCACATTCATTTTGCTGCATTCATTTTGTTTGCACTCACAGGTTGCAGATAATCCAGATCTAAGGTGGGTTTGGTTTCCTTGGGTAGGTTGGTTTCCAGTAGAAGATTATTTTAGGAGTTTTTAAAAAGAGTTTATAGAGTCAGATGGTACAAGTTTGTCTCTATAATTAAGACTTTTCCACCATCACAAACTTTAAACACAAAGTCTAAAATCTTGGGCAGCATAGAAAATAGGTTCTAGCTAAGCAGGAGTTTTGTCCTCTACCAAGACCTTTCCTGAAAATCACTTATCAAGACAGTTTCCTGTAAGAAAAAGCCATATCCCAGCTGATTTTCCTTCCTGGGGCCAAAATCTGCTATTATTCGGCCTGAAAGCCTTGATGACTCTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTATGGATGCTTGTGTGTGTGTATGGGGAATATGTGATTAATGTGTGTTGGCTGCTGTTGTCTCTGATTTGGCTACTGTTGTTTCTGATTTAAATCTAAGTAAATGTTTAATTAAATGTATAGAATGCTGTCTCTAATGTGACCCTCTCTCCTTATTAAATCCTCTTATTAACCCACTCCTATGAGACCATCTTATTTCTTGCAGATGAATGATGCTATGGGATTTGAATTGCCCTGGGTGTATTTTGTCAGTCTCGTCATCTTTGGGTCATTTTTCGTACTAAATCTTGTACTTGGTGTATTGAGCGGGTAAGCTACACCTCTTTCATCTTGAAAGCAGAGTCCTGAGGACAGTTGCCAAGACCACACAAGCTTTGCTGGATGAGGGCCGCCAAGAGGGGTTGCCAGACATTTTATGTGTCCTCTGAGATGCTTTCTTTTCTGCTGAGGCTTCCCAAATCAAGCTGTTTCCTGGAACCTCACCAGGCTTCATGAAGGAGAACTATAGAACGATTATTGACCAGAAATTAATCAGCATTGTTGCTTGAGATTTAAACAATTTCCATAGCATGCCCTTTTTTTGTCTGTTCTAAAGTGAGATACATTTATAATTGCTTTATTTGTCTGGATCCAAATATAATGCAGATTAATTGTTATAAAACGATAGCAAAATGAGCTGGATTGGGTGGGCTTTTGGTAGTCCCCATTTGTAGATTTCAGCCGCTGAGCTTGTCCTTATTTGCAGAAAAAAAAAAAAAAAGGGAAGGACCTAGGCCCAGTCCCTGTCCTAGGAGCACTAACCTTCAGCAAAGCACTGAGAGGTTTGGCAGCTGCAACTGGGGCTCTGCTCTTTAGTAAATGGATAACTGATAACTGATCTCCTTACATTTTACAGGTAAATGATGCGATAGGATGGGAATGGCCATGGGTGTATTTTGTTAGTCTGATCATCCTTGGCTCATTTTTCGTCCTTAACCTGGTTCTTGGTGTCCTTAGTGGGTAAGCAGTCGGATCCGTGTTGCACCTTCTCCTGCTGCCACGTGTGAGGCAACTCTGCGTGTCTCCTAGCTGCTCCCTGACAGCTTCTCTGCATGTGTTTGGACTCTGATGTCCTCTCAGTGTGTTGCTTTTGGATTGAACTGTGATTCTTTCTGCCTGTATCTGTCTGTGAGATTCCGTGTTTCCAATGCTTGCCAAACACTGTTAATTTAATGAAAACGTTCCCCCAAAGCCAGTTGTGTTAGTATGTGAACGTGTAGAGGTGGATTACAAGTGAGTTAAAGGAATTCCAGCCTTGGTCTCCCCCAGGAAAGAGGCTTTTGTCCCTTGTCATTTTGTGTCTATTAGTACATAACTCCTTGTCGTTTTGTGTCTATTAGTACATAACCTGGCCCCTTTAGGTCACCACAGTGCATTATAAATACTTCCAGGGGAGTTTTAGATTTTACTGTGAAGGAGAAATAAGCCTCAAGCACATAAATACTGGACAGTTTCAAAATCTTCCTTAGATTGGGATTCTTTATTAGCTTGGTGTTCTAGTGCTGTCATTGTGAGAACTGTCCCTGTGATTCAGTTTTAACCGAAACTTACAGAATCCTTCTCTTAATGCAGAGTGATGATCGACTTTTGTGCACACATTTCCCATGGCCTTACAGAGACCCCGTCATTCAGTCACGATTTTTGAAGTTTGCTTGTTTATCACTTCCTCTCTATGGATTGACTCTCCATAAAGAGGGTGCAACAGATTCTGGCCTGGAAAGGGAACTCCTTATGTTGCAGGCTCTGCCTTGCCCGTAGCTGGAGATGCCATCCCAGAACCCTTGTGGGCAGCCCTGCATCCACACCGCCTCTCAGACACCCCCAGAAGGTGGGGTGCTACAGAGAAGGGAGCTGGGGGCTGTATGGCTCTCTCACAATCAGCTCCTTCATACAGCCATTGCCGGGTTGTGGGGGGCAGGCAGGATACCAGGAGGCCAAGAGGGGCCCACGTCTCCCAGAGGAGCCTCTGTCACTGCGCTGCGCCCAGGCACCCTCAGGAAGTAGTGTTGATGGATTTGATTCCAGGCAAGTTTATCTCCTCCTCACTCACTTTATCTTGCTCTTTCCGAGGCTGTATCTCGGGGAAGTGATGTCTTCATGTATGCTGAGTTAGTGAAAGGCTTTAATCGCATTTTTGGAAACACTGCCTTTTCCAGAGCAGAAAGCAGAGTGCGTTTATCCATCTCGGCTTCCTTTCTGCATCTTCCCCTAAACCTGCCCTGGATTGAATGTAGTCAGTTCCACACCAGGGACGCATACTGTCACAGGAAGTCCCTATGTAGAGTTGGCCCAGGGGCCAGTGCCCGCCAGAGAGAGGAGTGGGGGCTGAGCCTGGGATGGGGCCACATAACCCTCCCCTGCCTGAGCCGCCTCCTGTAGATGAGTGGCTCCTCAAGCCTCCGGCCCTTCCACCTCAACGTGAGAAGTGTCTCTCTCCTAGTAAACCTCAGTGGCCTTAGGCTAGGGTTGGACATGTGAGGGTGGTGTCTATTCCTGGAGAAATAACATCGCATTTGATTTTGCCACAGGAGCTTTCTATACAAGGTTAACAGCAATCCTGTTGTGAATTCCTTGGCGCCTCATGTCTCCTAAACCCAGCTAAACTGACGGAGGCCATGGAAACCACTAATTTTAACAGTGCCGGTGACATCCCTTATCTTTTAGCTTTCCCAGGCAGGAACCGTTGCCCCAGCAGACATGATGAAGTAGAGGCAGGAGCCAGATCGTGAGGTGCTTAAAAAAAGAAAAGAGAAAAAGATGGGCGGGGGGGCTTCCCACTATCACAAATGGGGATTAAACCTGCAACTCCGTGGGAGGTACCCAAAGCTGGAGGATAAAAAAGGTACACTCCTTCATGGAACAACCAGTTTACTGAAATATATTTTGGGGGGAAATAATTTTTTTAAAAAATATTTTTTCATCAAAACAAAACTTAGATCCCTGATGGAGGAGACTGGAAATGACACATGAAATTATAAAAGAAAACCCGAGACTT
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CCTATTTGGCTTCTCGAGGCAAACATTGTGAAATGCACGAGCCTCATTCTGTAAAGTTAAAACCTGGAGCCAGATCATATGCAGGAAAGCACATGCTTAACACCCTAAGGGCTTGCACCTGCAAGGCAAGAGCGATGGCTCTATCCAGACTGTTTGCAGTTCTCATTGGCTGAAAATTCTGGGTGTTGTGGCAGGGTCATACCTTGGGCCATCCATTCTGTCCCCTGACTGGTTCTTAACACCTCCTTCCTGGGAAAGGTGTTTTGCTGAATTTAACATTGACCTGTGCTGCTGGAAAGTTCCATCCAGCTGTGATCCTTAAAGCCCTGTTTGCTCTAGCTTCCTTTGGCCAGGTCTGCCAGGGAGACTGTGTCTGAATGTGCAGCATGAGCTTGTCCGGGAATAGGGGAATGGGGTTCCTCAGGCCACACCCTTTCACCTCTAAACCCAGTCAGCTCACAGCTGGAGCCAGTCTCCCAGGGGGGTCATCTAGATCAAAGCTAAGTGTGGAGAATAAGGGCTGCTTCTCCTTTCTGTGGGTGCAGCTAAGAAAAAGCCCATTCCCCAAAGAGCCCGTGGCTTGTGTCAGCTAGTTGACCTTGAAAAAATTTCTTTTTCACATTCATTTTGCTGCATTCATTTTGTTTGCACTCACAGGTTGCAGATAATCCAGATCTAAGGTGGGTTTGGTTTCCTTGGGTAGGTTGGTTTCCAGTAGAAGATTATTTTAGGAGTTTTTAAAAAGAGTTTATAGAGTCAGATGGTACAAGTTTGTCTCTATAATTAAGACTTTTCCACCATCACAAACTTTAAACACAAAGTCTAAAATCTTGGGCAGCATAGAAAATAGGTTCTAGCTAAGCAGGAGTTTTGTCCTCTACCAAGACCTTTCCTGAAAATCACTTATCAAGACAGTTTCCTGTAAGAAAAAGCCATATCCCAGCTGATTTTCCTTCCTGGGGCCAAAATCTGCTATTATTCGGCCTGAAAGCCTTGATGACTCTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTATGGATGCTTGTGTGTGTGTATGGGGAATATGTGATTAATGTGTGTTGGCTGCTGTTGTCTCTGATTTGGCTACTGTTGTTTCTGATTTAAATCTAAGTAAATGTTTAATTAAATGTATAGAATGCTGTCTCTAATGTGACCCTCTCTCCTTATTAAATCCTCTTATTAACCCACTCCTATGAGACCATCTTATTTCTTGCAGATGAATGATGCTATGGGATTTGAATTGCCCTGGGTGTATTTTGTCAGTCTCGTCATCTTTGGGTCATTTTTCGTACTAAATCTTGTACTTGGTGTATTGAGCGGGTAAGCTACACCTCTTTCATCTTGAAAGCAGAGTCCTGAGGACAGTTGCCAAGACCACACAAGCTTTGCTGGATGAGGGCCGCCAAGAGGGGTTGCCAGACATTTTATGTGTCCTCTGAGATGCTTTCTTTTCTGCTGAGGCTTCCCAAATCAAGCTGTTTCCTGGAACCTCACCAGGCTTCATGAAGGAGAACTATAGAACGATTATTGACCAGAAATTAATCAGCATTGTTGCTTGAGATTTAAACAATTTCCATAGCATGCCCTTTTTTTGTCTGTTCTAAAGTGAGATACATTTATAATTGCTTTATTTGTCTGGATCCAAATATAATGCAGATTAATTGTTATAAAACGATAGCAAAATGAGCTGGATTGGGTGGGCTTTTGGTAGTCCCCATTTGTAGATTTCAGCCGCTGAGCTTGTCCTTATTTGCAGAAAAAAAAAAAAAAAGGGAAGGACCTAGGCCCAGTCCCTGTCCTAGGAGCACTAACCTTCAGCAAAGCACTGAGAGGTTTGGCAGCTGCAACTGGGGCTCTGCTCTTTAGTAAATGGATAACTGATAACTGATCTCCTTACATTTTACAGGTAAATGATGCGATAGGATGGGAATGGCCATGGGTGTATTTTGTTAGTCTGATCATCCTTGGCTCATTTTTCGTCCTTAACCTGGTTCTTGATGTCCTTAGTGGGTAAGCAGTCGGATCCGTGTTGCACCTTCTCCTGCTGCCACGTGTGAGGCAACTCTGCGTGTCTCCTAGCTGCTCCCTGACAGCTTCTCTGCATGTGTTTGGACTCTGATGTCCTCTCAGTGTGTTGCTTTTGGATTGAACTGTGATTCTTTCTGCCTGTATCTGTCTGTGAGATTCCGTGTTTCCAATGCTTGCCAAACACTGTTAATTTAATGAAAACGTTCCCCCAAAGCCAGTTGTGTTAGTATGTGAACGTGTAGAGGTGGATTACAAGTGAGTTAAAGGAATTCCAGCCTTGGTCTCCCCCAGGAAAGAGGCTTTTGTCCCTTGTCATTTTGTGTCTATTAGTACATAACTCCTTGTCGTTTTGTGTCTATTAGTACATAACCTGGCCCCTTTAGGTCACCACAGTGCATTATAAATACTTCCAGGGGAGTTTTAGATTTTACTGTGAAGGAGAAATAAGCCTCAAGCACATAAATACTGGACAGTTTCAAAATCTTCCTTAGATTGGGATTCTTTATTAGCTTGGTGTTCTAGTGCTGTCATTGTGAGAACTGTCCCTGTGATTCAGTTTTAACCGAAACTTACAGAATCCTTCTCTTAATGCAGAGTGATGATCGACTTTTGTGCACACATTTCCCATGGCCTTACAGAGACCCCGTCATTCAGTCACGATTTTTGAAGTTTGCTTGTTTATCACTTCCTCTCTATGGATTGACTCTCCATAAAGAGGGTGCAACAGATTCTGGCCTGGAAAGGGAACTCCTTATGTTGCAGGCTCTGCCTTGCCCGTAGCTGGAGATGCCATCCCAGAACCCTTGTGGGCAGCCCTGCATCCACACCGCCTCTCAGACACCCCCAGAAGGTGGGGTGCTACAGAGAAGGGAGCTGGGGGCTGTATGGCTCTCTCACAATCAGCTCCTTCATACAGCCATTGCCGGGTTGTGGGGGGCAGGCAGGATACCAGGAGGCCAAGAGGGGCCCACGTCTCCCAGAGGAGCCTCTGTCACTGCGCTGCGCCCAGGCACCCTCAGGAAGTAGTGTTGATGGATTTGATTCCAGGCAAGTTTATCTCCTCCTCACTCACTTTATCTTGCTCTTTCCGAGGCTGTATCTCGGGGAAGTGATGTCTTCATGTATGCTGAGTTAGTGAAAGGCTTTAATCGCATTTTTGGAAACACTGCCTTTTCCAGAGCAGAAAGCAGAGTGCGTTTATCCATCTCGGCTTCCTTTCTGCATCTTCCCCTAAACCTGCCCTGGATTGAATGTAGTCAGTTCCACACCAGGGACGCATACTGTCACAGGAAGTCCCTATGTAGAGTTGGCCCAGGGGCCAGTGCCCGCCAGAGAGAGGAGTGGGGGCTGAGCCTGGGATGGGGCCACATAACCCTCCCCTGCCTGAGCCGCCTCCTGTAGATGAGTGGCTCCTCAAGCCTCCGGCCCTTCCACCTCAACGTGAGAAGTGTCTCTCTCCTAGTAAACCTCAGTGGCCTTAGGCTAGGGTTGGACATGTGAGGGTGGTGTCTATTCCTGGAGAAATAACATCGCATTTGATTTTGCCACAGGAGCTTTCTATACAAGGTTAACAGCAATCCTGTTGTGAATTCCTTGGCGCCTCATGTCTCCTAAACCCAGCTAAACTGACGGAGGCCATGGAAACCACTAATTTTAACAGTGCCGGTGACATCCCTTATCTTTTAGCTTTCCCAGGCAGGAACCGTTGCCCCAGCAGACATGATGAAGTAGAGGCAGGAGCCAGATCGTGAGGTGCTTAAAAAAAGAAAAGAGAAAAAGATGGGCGGGGGGGCTTCCCACTATCACAAATGGGGATTAAACCTGCAACTCCGTGGGAGGTACCCAAAGCTGGAGGATAAAAAAGGTACACTCCTTCATGGAACAACCAGTTTACTGAAATATATTTTGGGGGGAAATAATTTTTTTAAAAAATATTTTTTCATCAAAACAAAACTTAGATCCCTGATGGAGGAGACTGGAAATGACACATGAAATTATAAAAGAAAACCCGAGACTT
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Task1_train_7089
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Consider a variant on Chromosome 3 in gene CACNA1D (calcium voltage-gated channel subunit alpha1 D). Determine its clinical classification and disease relevance.
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Pathogenic; not provided
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ACTGAAGGTAGGTGGAGGACATGCTACTTGTCTGTTTGGCTGAGCTCATTTTATTTTTATGAAAACACGATTCAATATTGGCTCTTCTCCTAAAGGTATATTTTGAGCATCACTAGTTAGAAAGGGCACCTGATGACTCAGTATGAAGATTCATGTCCTACTCAGCTTTGACAACTCTGCCAGGCTCTGGAGGAACCTCAGAGATTTAAGAAAGGATTGAAAAGGTTCCCTTTAAAAAAAAAAAAACTAGCTTTGTAGCACTTTGCTGCCTGGTAAATTCTGTATGGTGATTGAGATGCTGCAAGAGATGTGTATAATAAGCGAAGTGGCTCTCTGCACTGATTGCATGAGCAGATCCACGTCCCATATGGTGGATATAGGAACTGCATATGTGTGCAAGTGTAGTTTTGCATCTGCACGTGAATCTATGAATATCTAGATTTTCTAACCCACTTAAGGGCTGCATATGACAGATTCTGGAGTTATCTATAAGCCATAAGGAAGGACTGATAGCATGATCAAGTCAAGATTATACTTTTAAAAGTCGCATTTTAAGACCAACATAATTTTTATGATGAAGTCTGTTAATTTCTGTGCCATTTGTGCTCATCTTTCTTTCCTGCACTCCCACCCCAATCTAGACCTCCAGAGTGAAAGCCAAATTATCTCTCAATCATATTTATTGGATACTCAGATGCTGTATCTGTCATCTACGTAGTAATGTTTGCTTGTCTTTTAGCCGACGCTGGCGTCGCTGGAACCGATTCAATCGCAGAAGATGTAGGGCCGCCGTGAAGTCTGTCACGTTTTACTGGCTGGTTATCGTCCTGGTGTTTCTGAACACCTTAACCATTTCCTCTGAGCACTACAATCAGCCAGATTGGTTGACACAGATTCAAGGTACAAGCAGAGGCCATTCCTTTTTTGTTCTGAACTAGAGATTTCTGTGGCTGTCCAACTGCCATTTGGTCTTATCTGATCGCTGCATGATGAAGTATCGCAACATTTCTAGTGAGGACAAACTTGGTAGAACCATCCAGACACAGCAACTACCAGAGCGAGGGTGCCATCTGTGCCGCGTGGTGAAGCACCTTGGAGCCACTTAATGCCAAGCATCTAATTGTCCTAACCCTGAGCCAACCTAGGACCAAGAATTCTTGAAGCTGGAAGGGACCTCGTAATCCCTGCTCCCTGCCCTCATCGGGGAAGCTTCATTTTCCCCTATAGTACTTCTGGCAAATGGTTTTGGTTCCCCTGCTTTGAATGCTCCAGCACTGGGGTGTGGGACACTCATCCCTAGAGACAGCCCATTCTGGGTTTGACAGTTTTGAGCCTTTGAAAAGTCCTTCCTTTCATCCAGTCAAACCCGTTTCCCTCTACCTCTCCAGCCTGCTTGGTGATATTTTCAGCTGTTAGAAATGACATTGATAGGTGACTGCTTCTGATATCGTCATGCCATAAATGAATTCAGACAGATCTTTTCTGTGTGATTGAATGAAAAAATATGTATAACCTGATGGTGTCAACGCAGAATCGTAGGCTTTTAGGGCTGGAAGGAGTCAGAGATTATGTGATGAGCTGCCCCTTCCCATTTTGTCATCAGTGACACTGAGACCTGGAGAAATCAAGTAACTTCTCCAGAGTCACACACATAGCTAGTAGCAGAAGCAGGACCAGAACCTGGTGGACAGACTGTCCACGCGAAGGCCACGTTTCTGTCCTGAGTGAGGTAGTGAAGAGAGAGACAAGGTATTGGCGTATTTCCTGTGGGGCCTGATAGGGAGGGAGGTGTGAGGGGCACGAGCAGTCTGAGTGTCTTGCAGGAGACCCTGAGGATGGGTGCCCCTTTGTCTTTCCAGATATTGCCAACAAAGTCCTCTTGGCTCTGTTCACCTGCGAGATGCTGGTAAAAATGTACAGCTTGGGCCTCCAAGCATATTTCGTCTCTCTTTTCAACCGGTTTGATTGCTTCGTGGTGTGTGGTGGAATCACTGAGACGATCTTGGTGGAACTGGAAATCATGTCTCCCCTGGGGATCTCTGTGTTTCGGTGTGTGCGCCTCTTAAGAATCTTCAAAGTGACCAGGTAAGGAAATGTGGGTCCCACTGCAAATGTTTTATGAACATGAGGCGGCAACCAGTCACATCCCCGGGCAGGTGATGTTCTGCTCTGTCCTGCATGGGTGTTCTGAGCTGACACCCTCATCTTGACTTATAGGCACTGGACTTCCCTGAGCAACTTAGTGGCATCCTTATTAAACTCCATGAAGTCCATCGCTTCGCTGTTGCTTCTGCTTTTTCTCTTCATTATCATCTTTTCCTTGCTTGGGATGCAGCTGTTTGGCGGCAAGTTTAATTTTGATGAAACGCAAACCAAGCGGAGCACCTTTGACAATTTCCCTCAAGCACTTCTCACAGTGTTCCAGGTGAGTCCTCCCTCCATTCCCCGAAAAGCACTTCGTGAGCAGCAGCTAAAACTCCTCTGCCTTCTTGTCTGCTCACACTCAGGAAGACAAAAGGACTCCATTTTTGTTCATCTCTGCCCTAATCATAGCCTGGTAAATTTTGTGCCATTTAAGTTATTCGTTCTGCATCATCCTCCAGCTGTCTATCTTAAGTGATGTAATTTTTTTAAAGACTTCTAGCTACATTACAAAATAATAAACCAAAAAAACCGTTTTTCACACTCAAGCTCTTCCAAGAAAACTTTTTGATTGATTTTATGAGGTTTCTTTGAAATAGACTCTAAAATTCTTTTCTCTTTGGTACTTTTTGATGGCAGGCCAGTTCATAATCCTAGTTATAATAGATTTACACAAGAAGTGAATTCTCATGCCTCCATGCTTTGGTGTGTAGTTGGAGGAATCAGAGTGGTAGGAACTGTGGCAGCCATTGGTCCCTTCTGTCCTCCTCCTGGGATGCAGTGAGGACACAAAGATTCTGAGGGTGCCTGTCCTGTGGGGCCTCTGCAGGCAGTAGCTGAGAAGGGAGCGGTGGTTGCAGAGAGGCACCGATGGCTCTGCTGCTCAGAGCAGCAGCACATGCTCCCCTGACTCTACGCTGAGGTGCTCAAAACCCTCCTCCTTGGACAGGGTCTGATGGGGAAGTTTAAAAGACCCACCTGTCCTCATTGCTTTTCCTGTGTGATGTGAGCTGCAGAGCCCTGCCAGAGAGGAAAGGCAGCAGACAGCTGGGTCCTGTGGTGGCCCTTTCCATGCCCAGCTCTCTGCTGTGGATGAGTCACTTACCCATTTCTGAAGAAATCCAGAGACCAAAGGGAATGATCTGGACAATTCTCTCCCACTTGGTCATTTTCAGGTATATATAATCTGCTGTAAGCCATAGTATTGTTGTTTGAATTATACTTAAATTTTGGCTGCTGATCAGTGATTCTTTTTTAAAAAAAAATTTCTTTCAGAGAAACTGGTGTCTTTTTTTTTTTTTGGTAATGCATGCATATGGCACAAAATTCTAATGTTACAAATGAATAATAATTCTCCCAGCCAGCCACAAATTTCCTCTTCTAGGAAGCAACCACCATTAAACAGTTTCTTGTGAATTCTTAGATCTGCATTTTCTGATAGCTACAACTCAGTTAAGCTACCTATAGGAGACTTTCCACAGACAGGAGCTCACTGTACGTGCTGTTTTGCATCTTGCTTTTATCACTTTGAGTGTCCTCAAGAGCCTTCCTGCTTGGTCCATAAAAGGCTGCCCCTCCTTTGAAACGCTGCGTCCATGCGGTGGTAGATGTGCCGTTGTTCATATGACCAGTCCCTTGCTGACAAGCATTGAGTTCTGTCTGGTCTTAGCCCACATACACAGGGCTCCAGTAGGTGACCCTGAACACGCATCAGAGGGCACATGTGTTGGCTGTAGATCTGTGGGATAAACTCCCAGAGATGGAATTGCTGCTTTAGAGGGTGTGTCCATTTTAAATGTTGACACACGTGCCCAAGTGCTCTCCTTATGGTTGTATTAGCTCATTGTCTTCACACTGCCCATTGCCTCACTGCCTCTCCCCTCAGTGGAGAGCATGCTTTGGGATGCCCATCAGTTAGGTGAAAATGGCATTTCATTGTACTTTTAAAAGATAC
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ACTGAAGGTAGGTGGAGGACATGCTACTTGTCTGTTTGGCTGAGCTCATTTTATTTTTATGAAAACACGATTCAATATTGGCTCTTCTCCTAAAGGTATATTTTGAGCATCACTAGTTAGAAAGGGCACCTGATGACTCAGTATGAAGATTCATGTCCTACTCAGCTTTGACAACTCTGCCAGGCTCTGGAGGAACCTCAGAGATTTAAGAAAGGATTGAAAAGGTTCCCTTTAAAAAAAAAAAAACTAGCTTTGTAGCACTTTGCTGCCTGGTAAATTCTGTATGGTGATTGAGATGCTGCAAGAGATGTGTATAATAAGCGAAGTGGCTCTCTGCACTGATTGCATGAGCAGATCCACGTCCCATATGGTGGATATAGGAACTGCATATGTGTGCAAGTGTAGTTTTGCATCTGCACGTGAATCTATGAATATCTAGATTTTCTAACCCACTTAAGGGCTGCATATGACAGATTCTGGAGTTATCTATAAGCCATAAGGAAGGACTGATAGCATGATCAAGTCAAGATTATACTTTTAAAAGTCGCATTTTAAGACCAACATAATTTTTATGATGAAGTCTGTTAATTTCTGTGCCATTTGTGCTCATCTTTCTTTCCTGCACTCCCACCCCAATCTAGACCTCCAGAGTGAAAGCCAAATTATCTCTCAATCATATTTATTGGATACTCAGATGCTGTATCTGTCATCTACGTAGTAATGTTTGCTTGTCTTTTAGCCGACGCTGGCGTCGCTGGAACCGATTCAATCGCAGAAGATGTAGGGCCGCCGTGAAGTCTGTCACGTTTTACTGGCTGGTTATCGTCCTGGTGTTTCTGAACACCTTAACCATTTCCTCTGAGCACTACAATCAGCCAGATTGGTTGACACAGATTCAAGGTACAAGCAGAGGCCATTCCTTTTTTGTTCTGAACTAGAGATTTCTGTGGCTGTCCAACTGCCATTTGGTCTTATCTGATCGCTGCATGATGAAGTATCGCAACATTTCTAGTGAGGACAAACTTGGTAGAACCATCCAGACACAGCAACTACCAGAGCGAGGGTGCCATCTGTGCCGCGTGGTGAAGCACCTTGGAGCCACTTAATGCCAAGCATCTAATTGTCCTAACCCTGAGCCAACCTAGGACCAAGAATTCTTGAAGCTGGAAGGGACCTCGTAATCCCTGCTCCCTGCCCTCATCGGGGAAGCTTCATTTTCCCCTATAGTACTTCTGGCAAATGGTTTTGGTTCCCCTGCTTTGAATGCTCCAGCACTGGGGTGTGGGACACTCATCCCTAGAGACAGCCCATTCTGGGTTTGACAGTTTTGAGCCTTTGAAAAGTCCTTCCTTTCATCCAGTCAAACCCGTTTCCCTCTACCTCTCCAGCCTGCTTGGTGATATTTTCAGCTGTTAGAAATGACATTGATAGGTGACTGCTTCTGATATCGTCATGCCATAAATGAATTCAGACAGATCTTTTCTGTGTGATTGAATGAAAAAATATGTATAACCTGATGGTGTCAACGCAGAATCGTAGGCTTTTAGGGCTGGAAGGAGTCAGAGATTATGTGATGAGCTGCCCCTTCCCATTTTGTCATCAGTGACACTGAGACCTGGAGAAATCAAGTAACTTCTCCAGAGTCACACACATAGCTAGTAGCAGAAGCAGGACCAGAACCTGGTGGACAGACTGTCCACGCGAAGGCCACGTTTCTGTCCTGAGTGAGGTAGTGAAGAGAGAGACAAGGTATTGGCGTATTTCCTGTGGGGCCTGATAGGGAGGGAGGTGTGAGGGGCACGAGCAGTCTGAGTGTCTTGCAGGAGACCCTGAGGATGGGTGCCCCTTTGTCTTTCCAGATATTGCCAACAAAGTCCTCTTGGCTCTGTTCACCTGCGAGATGCTGGTAAAAATGTACAGCTTGGGCCTCCAAGCATATTTCGTCTCTCTTTTCAACCGGTTTGATTGCTTCGTGGTGTGTGGTGGAATCACTGAGACGATCTTGGTGGAACTGGAAATCATGTCTCCCCTGGGGATCTCTGTGTTTCCGTGTGTGCGCCTCTTAAGAATCTTCAAAGTGACCAGGTAAGGAAATGTGGGTCCCACTGCAAATGTTTTATGAACATGAGGCGGCAACCAGTCACATCCCCGGGCAGGTGATGTTCTGCTCTGTCCTGCATGGGTGTTCTGAGCTGACACCCTCATCTTGACTTATAGGCACTGGACTTCCCTGAGCAACTTAGTGGCATCCTTATTAAACTCCATGAAGTCCATCGCTTCGCTGTTGCTTCTGCTTTTTCTCTTCATTATCATCTTTTCCTTGCTTGGGATGCAGCTGTTTGGCGGCAAGTTTAATTTTGATGAAACGCAAACCAAGCGGAGCACCTTTGACAATTTCCCTCAAGCACTTCTCACAGTGTTCCAGGTGAGTCCTCCCTCCATTCCCCGAAAAGCACTTCGTGAGCAGCAGCTAAAACTCCTCTGCCTTCTTGTCTGCTCACACTCAGGAAGACAAAAGGACTCCATTTTTGTTCATCTCTGCCCTAATCATAGCCTGGTAAATTTTGTGCCATTTAAGTTATTCGTTCTGCATCATCCTCCAGCTGTCTATCTTAAGTGATGTAATTTTTTTAAAGACTTCTAGCTACATTACAAAATAATAAACCAAAAAAACCGTTTTTCACACTCAAGCTCTTCCAAGAAAACTTTTTGATTGATTTTATGAGGTTTCTTTGAAATAGACTCTAAAATTCTTTTCTCTTTGGTACTTTTTGATGGCAGGCCAGTTCATAATCCTAGTTATAATAGATTTACACAAGAAGTGAATTCTCATGCCTCCATGCTTTGGTGTGTAGTTGGAGGAATCAGAGTGGTAGGAACTGTGGCAGCCATTGGTCCCTTCTGTCCTCCTCCTGGGATGCAGTGAGGACACAAAGATTCTGAGGGTGCCTGTCCTGTGGGGCCTCTGCAGGCAGTAGCTGAGAAGGGAGCGGTGGTTGCAGAGAGGCACCGATGGCTCTGCTGCTCAGAGCAGCAGCACATGCTCCCCTGACTCTACGCTGAGGTGCTCAAAACCCTCCTCCTTGGACAGGGTCTGATGGGGAAGTTTAAAAGACCCACCTGTCCTCATTGCTTTTCCTGTGTGATGTGAGCTGCAGAGCCCTGCCAGAGAGGAAAGGCAGCAGACAGCTGGGTCCTGTGGTGGCCCTTTCCATGCCCAGCTCTCTGCTGTGGATGAGTCACTTACCCATTTCTGAAGAAATCCAGAGACCAAAGGGAATGATCTGGACAATTCTCTCCCACTTGGTCATTTTCAGGTATATATAATCTGCTGTAAGCCATAGTATTGTTGTTTGAATTATACTTAAATTTTGGCTGCTGATCAGTGATTCTTTTTTAAAAAAAAATTTCTTTCAGAGAAACTGGTGTCTTTTTTTTTTTTTGGTAATGCATGCATATGGCACAAAATTCTAATGTTACAAATGAATAATAATTCTCCCAGCCAGCCACAAATTTCCTCTTCTAGGAAGCAACCACCATTAAACAGTTTCTTGTGAATTCTTAGATCTGCATTTTCTGATAGCTACAACTCAGTTAAGCTACCTATAGGAGACTTTCCACAGACAGGAGCTCACTGTACGTGCTGTTTTGCATCTTGCTTTTATCACTTTGAGTGTCCTCAAGAGCCTTCCTGCTTGGTCCATAAAAGGCTGCCCCTCCTTTGAAACGCTGCGTCCATGCGGTGGTAGATGTGCCGTTGTTCATATGACCAGTCCCTTGCTGACAAGCATTGAGTTCTGTCTGGTCTTAGCCCACATACACAGGGCTCCAGTAGGTGACCCTGAACACGCATCAGAGGGCACATGTGTTGGCTGTAGATCTGTGGGATAAACTCCCAGAGATGGAATTGCTGCTTTAGAGGGTGTGTCCATTTTAAATGTTGACACACGTGCCCAAGTGCTCTCCTTATGGTTGTATTAGCTCATTGTCTTCACACTGCCCATTGCCTCACTGCCTCTCCCCTCAGTGGAGAGCATGCTTTGGGATGCCCATCAGTTAGGTGAAAATGGCATTTCATTGTACTTTTAAAAGATAC
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Task1_train_7090
|
Assess the clinical impact of this variant on gene WNT5A (Wnt family member 5A), found on Chromosome 3. State whether it’s pathogenic or benign, and the disease if applicable.
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Pathogenic; Autosomal dominant Robinow syndrome 1
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ATTTCTGATCTGAGGCACTGGGCATGTCATATATAGAGATCCCAGCGATACATCCCTGAAGAGGGTGATAGCAAGGTTTTATGGGCTTCCAGAGAGAATGGGGCTGACCCCACCCCCCCCAAATTTTCATGTGGCTCTGGGTCCACCACAGAAGAGGCATCCCACACTGCAGACACCATGGCAGTGAGAGGCCTGAGAAAGGAGAGGCCACACTCTGTCTGTGGCAATTATTTGACCCCTCATGGCAGTACAGGCAAAATTCTGTAGAGTTTAGTCCTTCCCCGGAACACCCAAATGTTTAACAACAAATTTGAGAAGATAAGCTAGCTGGAATTATCTACACGATCTTTGACTTCTCTATGTCCTTTGCCTATAATGTTTTAGAAGTTATCATCTATCAAGCACTTACTACTGGCGGACACTAAACTAAGACCTTTAATTAAACCAAATGAAATTGTTATTTTGTAATAAAAAAGAGTCAAGTGTTCACAATTTCACATGGTTCAACCTACTAGATGATCTCACTGAGGCCTCACAATAACCTCAGGTAATTGTAATTGCCATGGCCATTTAACAGATGTGGAAATGGGAAAACTGAGGCTCAGAAAAAGCAAAGAACAGACAACACTGCATTTTAACCCAGATTTCTCTAATTCCCGAACTGCTAGCTCTTCATCTCTTAGCTGTGATGCATGAATTCAATAAAAACGTACCTAGGCTTATATTTCCATTCTTTAATTTTCTTCCATGGTCATGAAGTGGTTTTCTGGGCCTCAGTTTCCTAGTCTTTCAAATGAGTGTGGGGCCAGAGTCTTCTAAGGCTCTGTCCAGTCCTCTACAGTTTACTCTGTGATTAACTTCCTTCTCCCTCACCCCAAAATACAGAAGAGTGAAATCTCTGACCAGAAAGTTCCTGGCACCTACCTTGGGTTCTGTGAAAAAATAATGGCCCTGGTTTTCAATGCTGCCAAAGTTAAGAAAAGTTTTCACCCCTTCATTTTAAAGCAGCCATAAAGTGCCATGTGTTTAACCGCAGGAAAAAAAGGGTCTTTTTAACTATTGAGAAGTAGCTTTTCATATCCCCACCAGGGGAAGGAAAGAGCGGGAACCAGGAGACTCGTGAGGACTGCAAAGATGGTCCTCCCTGGGTACTTCTGCTGCTCTCTTCTCTCCAGAGCTACTTTGTGATTGGCCTGATGGTCAGACCTATAAAATCCCACACTGCTAAAAATGCTGTCCTTTTCCTAGAAAAGCCCTTTTTTAAAAAAACCCTCCATCCATCAGGCCTGCTACCTAATGACATAAAGAGAGGCAGGGAGAAAGAAAGGAGGGAAAGAGCCTCAAAGCTGGGGTGAGGGCTTTCCCATCTGGGCACCTACGAAGACAGAAAAATCCCTGTCCCAAACTGAAAGCCAACCACAGACATCGTCCAGGCAGGAGGGAGAAAGTTATTCCCATTTTTATTTCTGTGCTCCAGTAGCCAAAGGTACCAGGGACTAACTAAGAAGGCAAGGAAAGGTCTTTTTCAGGCAACTGCTGGTTCACCTTGGCTGGGGGCGAAAGGGAGGATGATCCGCCCAGGAGGCCCTTCTGGGATGTGCAGGGGCAACTATGGAGACAGATGGAGGAAAGAGAGGTAGACAAAGGGGGAGAAGAGAGAGACCGGGAAGGAGGAAAGGAAGGGAAGAGGGAGAAAGAAAGTGAGACGGGAACAGGATGAGGAGGAAAGAGACAGGAAAGACAGAGAAAGATAGGGAGAGACAGAAAGAGAAGCAGAGAGATAGAGACAGGACCATATAGCAAAGGAGTGGCAGAGGAGAGGACGGAGCTACAGGGAGAGACCCGAGGAGGCTGGAGGGCAAGGTGAGAAGACAGAGATGCGGGGCGGGGGCGAGACGCGGCACTCACCCTGCGGCCGGCCTCGTTGTTGTGCAGGTTCATGAGGATGCGAGCACTCTCGTAGGAGCCCTTGGCGTGGATGCGCTCCCGCTCGCGGGCGTCCACGAACTCCTTGGCAAAGCGGTAGCCATAGTCGATGTTGTCGCCGCAGCCGCCCCAGAGCCAGTCCCGCGGCAGGTCCTTGGGGCGCGCGGCGCGGCTGCAGCCGCAGGTGGACAGCTCGCCCTCGCGGCACGCCCGGCTCATGGCGTTCACCACCCCTGCTGCGCTCACCGCGTATGTGAAGGCCGTCTCGCGGCTGCCTGTGGGTGAGGACAAGGGATCACTGGCCGCCTGCCTCACGCGCTGGGCCGGGATGCTGCCGGGGGTGGGGGTGGGGGCAAGGTAGGGAATGGTGGGGAGGTAGGAGGTGGGGGGCAAGGTAGAGATGGAGGGGAGGTAGGAGGTGGGGTTGGGGCGAGGTAGGGAGGGGGGAGGTAGGAGGTGGGGGAGGTTGGAGGTTGGGGGGAAGTAGGAGGTGGGGAAGCAAGAATAGTGGGGAGGTAGAAGGTGGGGGGCAGGTAGGGCTGGGGGGAGGTTGGGGTAGAGGGTAGGGAGTAGGAGATGGGGGGGTAGGGGGTAGGGGATCAATAAGGTAAAAGCTCGGGCTGCCCCATCCTTAACACGCACCAGGCCCTGGGCCCAGCTTGAGGGGAAGCCAAGCAAGATCCCCCAAAACACACAGAAGCAACAATTAACAAAGGAGTAGCAGATCCCCAGTATCTCTGCTCAGCCATTTCAGAGCTGCAGGCCAGATTCTAAGCAGTGCTGGATTGATTTTCTCTGCAACTCTTTTGAAAATAGTCAAAACTTGCTATTTGCAAAAATGCACATGAAAGAAGTCATTGAAGGAACACTCAGAATATGGGTAGACTTCCTTACACTTATTTTAATATTAAGTATTATTTTCATTTGAGTTACATATAAGGCAGGATTACAGAATTTGCTAGGCCTTGAATCTAAGGGAGACACTGCCAGCGGCCACACTAGTTTCTGCCACACTCATTTTGGCCTTGTGTCCCCTCCTCCTCTGGCAGTTGTAACCTCTCCTCCCTCTTCCTTCATGCAGCAGAAAGTATTTCTCAGGACAAGTCTCTTTACTTTCCCAGAGGACAATTCTAAATCAGCTCATAGAGAGTTATAAATGAAGCTTGCTATTCTTAAATCCCAGGCTCATTGGCCTGATACTTCTCATTCAAGAATGAGTGTCTGCTTTTAAAACAGCCTGTTGTTCTTCAATGCCACTTCTGCAGACACCCCCTGCCCACTCCCCCACTGCCTTTGCCACAAAGTGTTAGAATGACAGCAAGAAGGAAAAAAGCACAACCTATGGGGAAAAGAGGGAGGGAGAAGTTTTCTTCTTCCCAAAACTAGTAAAGAATATCTCCCCATATAATAGTTACAGGGACCCTATTTGTAAGGAGAAAACTGGAGGCTATCATAGAGTACCCTAAACTTCGCTTGTACATGGAGACATTTCTGCATGTAACAAGAGCTAGTTAATAAAAGTACTGTAATCTGAGAGAGAAAGGGTTATCATCCAGCCAGCTGAAGCGTGGGGTAGGGGTGGGATTGGGGGGCAGGCTCACTTTCCTCAATTGCAAAATAAGGGTACTGAAATACATGCAAGGAAAGGGGCCTCTTCTGGTGCTGAAATTCATGTACCGCAATCAGTTTATCCTATACTTACTTTGAGAGCTTGCTAACAATCTTTTTTCTGAGGGGGAAGTGAGGAGCACAAGAAAAGCTGACAACAGGACTCAGTCTGAACGAGAAGGGTCATTCTGCAGGAGGACAGCGATGCCAGTTTAAGCATCCAGCAGGCCACCTCATTCTTGGTCTTCTGCTCCATGCCAGTCACAGCCATTTGTGAATGGTGATGGTTCTGATTTACCATATATCCTCCCCCTCCCATATTTTCAAAATGAATGACTTGAAGGTGTGTGCTGGTGGTTGGCAGGAGGATCTAGAAAGTTCCTGTGATGCGTTACACCTATCTAGCGGGATTAGAGAGGCAGAGCACATCAGGGGAATGGAAAGGAATGAGGACAATATACAGCTTCTAGGGAGTAATTTGATAGTACAGAAAATGCTGTGGCCCTGGATGGGGGATTTGTAGAACAAAGTAGCTAGAGGAAGAGGAGATGAAGAGGAGATG
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ATTTCTGATCTGAGGCACTGGGCATGTCATATATAGAGATCCCAGCGATACATCCCTGAAGAGGGTGATAGCAAGGTTTTATGGGCTTCCAGAGAGAATGGGGCTGACCCCACCCCCCCCAAATTTTCATGTGGCTCTGGGTCCACCACAGAAGAGGCATCCCACACTGCAGACACCATGGCAGTGAGAGGCCTGAGAAAGGAGAGGCCACACTCTGTCTGTGGCAATTATTTGACCCCTCATGGCAGTACAGGCAAAATTCTGTAGAGTTTAGTCCTTCCCCGGAACACCCAAATGTTTAACAACAAATTTGAGAAGATAAGCTAGCTGGAATTATCTACACGATCTTTGACTTCTCTATGTCCTTTGCCTATAATGTTTTAGAAGTTATCATCTATCAAGCACTTACTACTGGCGGACACTAAACTAAGACCTTTAATTAAACCAAATGAAATTGTTATTTTGTAATAAAAAAGAGTCAAGTGTTCACAATTTCACATGGTTCAACCTACTAGATGATCTCACTGAGGCCTCACAATAACCTCAGGTAATTGTAATTGCCATGGCCATTTAACAGATGTGGAAATGGGAAAACTGAGGCTCAGAAAAAGCAAAGAACAGACAACACTGCATTTTAACCCAGATTTCTCTAATTCCCGAACTGCTAGCTCTTCATCTCTTAGCTGTGATGCATGAATTCAATAAAAACGTACCTAGGCTTATATTTCCATTCTTTAATTTTCTTCCATGGTCATGAAGTGGTTTTCTGGGCCTCAGTTTCCTAGTCTTTCAAATGAGTGTGGGGCCAGAGTCTTCTAAGGCTCTGTCCAGTCCTCTACAGTTTACTCTGTGATTAACTTCCTTCTCCCTCACCCCAAAATACAGAAGAGTGAAATCTCTGACCAGAAAGTTCCTGGCACCTACCTTGGGTTCTGTGAAAAAATAATGGCCCTGGTTTTCAATGCTGCCAAAGTTAAGAAAAGTTTTCACCCCTTCATTTTAAAGCAGCCATAAAGTGCCATGTGTTTAACCGCAGGAAAAAAAGGGTCTTTTTAACTATTGAGAAGTAGCTTTTCATATCCCCACCAGGGGAAGGAAAGAGCGGGAACCAGGAGACTCGTGAGGACTGCAAAGATGGTCCTCCCTGGGTACTTCTGCTGCTCTCTTCTCTCCAGAGCTACTTTGTGATTGGCCTGATGGTCAGACCTATAAAATCCCACACTGCTAAAAATGCTGTCCTTTTCCTAGAAAAGCCCTTTTTTAAAAAAACCCTCCATCCATCAGGCCTGCTACCTAATGACATAAAGAGAGGCAGGGAGAAAGAAAGGAGGGAAAGAGCCTCAAAGCTGGGGTGAGGGCTTTCCCATCTGGGCACCTACGAAGACAGAAAAATCCCTGTCCCAAACTGAAAGCCAACCACAGACATCGTCCAGGCAGGAGGGAGAAAGTTATTCCCATTTTTATTTCTGTGCTCCAGTAGCCAAAGGTACCAGGGACTAACTAAGAAGGCAAGGAAAGGTCTTTTTCAGGCAACTGCTGGTTCACCTTGGCTGGGGGCGAAAGGGAGGATGATCCGCCCAGGAGGCCCTTCTGGGATGTGCAGGGGCAACTATGGAGACAGATGGAGGAAAGAGAGGTAGACAAAGGGGGAGAAGAGAGAGACCGGGAAGGAGGAAAGGAAGGGAAGAGGGAGAAAGAAAGTGAGACGGGAACAGGATGAGGAGGAAAGAGACAGGAAAGACAGAGAAAGATAGGGAGAGACAGAAAGAGAAGCAGAGAGATAGAGACAGGACCATATAGCAAAGGAGTGGCAGAGGAGAGGACGGAGCTACAGGGAGAGACCCGAGGAGGCTGGAGGGCAAGGTGAGAAGACAGAGATGCGGGGCGGGGGCGAGACGCGGCACTCACCCTGCGGCCGGCCTCGTTGTTGTGCAGGTTCATGAGGATGCGAGCACTCTCGTAGGAGCCCTTGGCGTGGATGCGCTCCCGCTCGCGGGCGTCCACGAACTCCTTGGCAAAGCGGTAGCCATAGTCGATGTTGTCGCCGCGGCCGCCCCAGAGCCAGTCCCGCGGCAGGTCCTTGGGGCGCGCGGCGCGGCTGCAGCCGCAGGTGGACAGCTCGCCCTCGCGGCACGCCCGGCTCATGGCGTTCACCACCCCTGCTGCGCTCACCGCGTATGTGAAGGCCGTCTCGCGGCTGCCTGTGGGTGAGGACAAGGGATCACTGGCCGCCTGCCTCACGCGCTGGGCCGGGATGCTGCCGGGGGTGGGGGTGGGGGCAAGGTAGGGAATGGTGGGGAGGTAGGAGGTGGGGGGCAAGGTAGAGATGGAGGGGAGGTAGGAGGTGGGGTTGGGGCGAGGTAGGGAGGGGGGAGGTAGGAGGTGGGGGAGGTTGGAGGTTGGGGGGAAGTAGGAGGTGGGGAAGCAAGAATAGTGGGGAGGTAGAAGGTGGGGGGCAGGTAGGGCTGGGGGGAGGTTGGGGTAGAGGGTAGGGAGTAGGAGATGGGGGGGTAGGGGGTAGGGGATCAATAAGGTAAAAGCTCGGGCTGCCCCATCCTTAACACGCACCAGGCCCTGGGCCCAGCTTGAGGGGAAGCCAAGCAAGATCCCCCAAAACACACAGAAGCAACAATTAACAAAGGAGTAGCAGATCCCCAGTATCTCTGCTCAGCCATTTCAGAGCTGCAGGCCAGATTCTAAGCAGTGCTGGATTGATTTTCTCTGCAACTCTTTTGAAAATAGTCAAAACTTGCTATTTGCAAAAATGCACATGAAAGAAGTCATTGAAGGAACACTCAGAATATGGGTAGACTTCCTTACACTTATTTTAATATTAAGTATTATTTTCATTTGAGTTACATATAAGGCAGGATTACAGAATTTGCTAGGCCTTGAATCTAAGGGAGACACTGCCAGCGGCCACACTAGTTTCTGCCACACTCATTTTGGCCTTGTGTCCCCTCCTCCTCTGGCAGTTGTAACCTCTCCTCCCTCTTCCTTCATGCAGCAGAAAGTATTTCTCAGGACAAGTCTCTTTACTTTCCCAGAGGACAATTCTAAATCAGCTCATAGAGAGTTATAAATGAAGCTTGCTATTCTTAAATCCCAGGCTCATTGGCCTGATACTTCTCATTCAAGAATGAGTGTCTGCTTTTAAAACAGCCTGTTGTTCTTCAATGCCACTTCTGCAGACACCCCCTGCCCACTCCCCCACTGCCTTTGCCACAAAGTGTTAGAATGACAGCAAGAAGGAAAAAAGCACAACCTATGGGGAAAAGAGGGAGGGAGAAGTTTTCTTCTTCCCAAAACTAGTAAAGAATATCTCCCCATATAATAGTTACAGGGACCCTATTTGTAAGGAGAAAACTGGAGGCTATCATAGAGTACCCTAAACTTCGCTTGTACATGGAGACATTTCTGCATGTAACAAGAGCTAGTTAATAAAAGTACTGTAATCTGAGAGAGAAAGGGTTATCATCCAGCCAGCTGAAGCGTGGGGTAGGGGTGGGATTGGGGGGCAGGCTCACTTTCCTCAATTGCAAAATAAGGGTACTGAAATACATGCAAGGAAAGGGGCCTCTTCTGGTGCTGAAATTCATGTACCGCAATCAGTTTATCCTATACTTACTTTGAGAGCTTGCTAACAATCTTTTTTCTGAGGGGGAAGTGAGGAGCACAAGAAAAGCTGACAACAGGACTCAGTCTGAACGAGAAGGGTCATTCTGCAGGAGGACAGCGATGCCAGTTTAAGCATCCAGCAGGCCACCTCATTCTTGGTCTTCTGCTCCATGCCAGTCACAGCCATTTGTGAATGGTGATGGTTCTGATTTACCATATATCCTCCCCCTCCCATATTTTCAAAATGAATGACTTGAAGGTGTGTGCTGGTGGTTGGCAGGAGGATCTAGAAAGTTCCTGTGATGCGTTACACCTATCTAGCGGGATTAGAGAGGCAGAGCACATCAGGGGAATGGAAAGGAATGAGGACAATATACAGCTTCTAGGGAGTAATTTGATAGTACAGAAAATGCTGTGGCCCTGGATGGGGGATTTGTAGAACAAAGTAGCTAGAGGAAGAGGAGATGAAGAGGAGATG
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Task1_train_7091
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The gene WNT5A (Wnt family member 5A) on Chromosome 3 contains a mutation. Based on this information, is the variant pathogenic or benign? Provide the disease if relevant.
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Pathogenic; not provided
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AGGCACTTGGGGGACCTTTTGCAGGGGAGGATGCCATATGTGCTCTCATCTTCCCAGGACATCAGCTGACTTGATGATAGTATCTAGGAGGGCTGTCTCAGAGGGTGTGGAGAGGTACCACTCCCATCCACTTCCCATCGACCCAGACAGTAGTGCCGTGCAGCTGAAGACCAGAGAGCATACTTTCCAGGGACAATTAAATACAGGCTTTTGTACCAAGGGTTCTGCTTGTTCCCTGAGGAAGCAGGCTCTTTGAATCTTGGACCGCATTTAAAATAAATCTCCAGCAGAACTCAAATTCACTTAGCAAATGATAGCTTATTCTGAACATTTTGGCCCAAAACAGGCTACGTATGAAAACGAGAGGAGGATCTTAAATCAAAGCTGTGTTCAAGTGACTACACAGATAAACAGTTCCGATTGCTGTTTTCCTTCCTGGTTACCATCAGAGGTGTATGATTTTTGCTAACTCATATACATGTGAAAAAGTAGTCCCATAGGTTGAGAGGAAGGCAGTTTAGGAGGAACATAGAAGAAGGGGGAAAAGTTACCATCCTCATAGAATTTTTCAAAAGTATTTAAGTTCCCTTACAATATCAACACACGGGAGAATAAATCTACCACACTCCCAGTTAACTACATAAGACAGCCCACAGTCAGGGAAAACTCCTGTGTTCCTGAAGCTTAACTCTTAGATTCAGATCCCAGTATATACATTAGCACATTTTAATCATTAACAGAAAGGACAAAGCCCCATGAAACTTTGCAGGCTGAGGCTACAGGCCATTCTCCCATTCAGTCAGAGGAACAGCTTCCAGTCTTGTATTATTTTAGTTTATAAAACCACTTGGCTCAAACATCCCCTGACAACTCTTTTTTGTTCTCAATGAATGTAATTTTCGGGGTTTTTTTTTTAATAAAAAATGCATTTTATCCATCTGTGATGGACATTAAGCCAACTTTTCTCTTCAGTCAGTATAGACAGTTAATTGCCTTGATAAATTGCTTCTTACTTTGGGAGTCACTGCAGTCATATTAATTATAAGGGCTTTTTTGCATAAAAGTAGAGAAACCTAAAATATTCACACTAGAAAACATACATTGGACCACATCTGTCAAATAGTATCCTATACTATTTAAACAAAAGCAGAGGCAAACAAACAGATTTTTTAAAATCTTTGCCTTTAGCCCATTTGAAATGCTATCTCTTTGAATGGGGAAGTAAGACATTCAACAACGTATTTAAAATGAAGAATCGGACTGTGAGCAATACTCTTAATTTTTTTTTCAAGTTCCTAGGTTGACATCCCAAGCATGTGCTTTTATTATATCAATTGCTGACATCACAAACATAAATTGGATCACTTTTAATTAAAATTCTTTCTGGGACTAAAAATAAAGCTTTTAACGTCTATATCTTTATAGCCTCAGGAAATAGTTCTATTAGGAAAATTAAAACTTTGTTCACTTTCAATATATCCAGGATTCTAAAAGACGGCAACTTTTAGTTCGATGCTCGGGCCGTTTCAATTGTGGCTTAAAAAACTAACAGGCAAGAGAGTTTCGACGTTTAAAAGCATATACATGACTTGCTTCCCCCACCTACTCTTAAGAAACCAAAATAAGTGTTCTGCTTCTATTTTAAACAAAATGCTTTATAGAAAAATTAAGTGTTTGCAAAAATGAAGGTGTCTGTGATACTTGCCTCCTGATTTGATTAAAATCCAAAACTTATCATCAGGTGTAGGGACAGGAATTAACATCATTTGCTATAATGACAAAAATGCCCAAGCCACCACCCGAGCTGGAAGGCATCCTCCTTCATGCTTTCTATCAAGCATGAAGTAAATGCTAAGGATTTCTTCTAGGAAAAAAAGTTAATGTTTTAAAAAAATATTTTAAATGTTTTCCTACCTATCTGCATCACCCTGCCAAAAACAGAGGTGTTATCCACAGTGCTGCAGTTCCACCTTCGATGTCGGAATTGATACTGGCATTCTTTGATGCCTGTCTTCGCGCCTTCTCCGATGTACTGCATGTGGTCCTGATACAAGTGGCACAGTTTCTTCTGTCCTTGAGAAAGTCCTGCCAGTTGGCTGCAGAGAGGCTGTGCTCCTATAATATATACTTCTGACATCTGAACAGGGTTATTCATACCTAGCGACCTGCAAGGGGGGGAGATGTGCATTCAAGATTTACGTGAAATCTCGAGGTGGGCCCCCTGAAAGCATGTCAGCAATACATAGTTTTAAGCACACAGATGCTTTTTTCTCTCCTGCTTGTCCTCATGACAAAGTATGAGAAGGGCTTCATAAAACTCCTCTGTTTAAACTGCACTCAGAAAACGGAGGTATTGTGCAGTCCCCATCCTGCCATCTGGCTCCTCAGTTAGTATTTTCACTCCCTTCCTAGCCCCTGTCACCATATACCTGAACCAGTATTTCCAAAATCCACTCAGAAAAGGAGGAAACAGCAGTTTGAGGGACAGGCCTCTGACATTAGAGAAAGTGACCCACTTTGCCCCACAAATTGGACCAATCTGCCTTGAAAACTTATGAATGCTGAAAGTAGACACAATTAGATACGGGTAGGAGATAGCAGTTCCTTTTGACTGATGGAAGAACAGAGGGACAAGTATACAGACTGGAGAAAATTCACCATGTTTCTTGACATTTTAAAAGGGCTCCTTATGTGATTGTGAGGGACCCAAGACAGGGTACCCAGTGAACAGAAGTCATGTTTGACAGTCAGAAAAATGCTGTTCATTTACAGGGAAAAAAATACCCAGAATGCCGTCAAAAATAATCCTCTGGATATATTACAGTCTATCTACAAGGCCCCTACCCAGAAAGAAACCCCCACTTGGGGACATTTGACTACTTCAAGTTAACCTCCTTTTGATTACATTTCAAGCCCCAATACTTCTGCACTTGGAGTGTAGCTGTCCTCCTAGAACTCTGCCTAATTCAAACTCTGTAGGTTAATAATAATCTCGAGTAACAGAAGATAAAGGCTGAAACTCACTTTTACTACCTAGAGGTGGCAAAAAGTAAATTTTGTAGATAGGCTTACAATTACTAGCAAAGTGAATTTCTGTTCTTTTTTATTGCATGATGTACTACAAGCACACGTCTGAACAAGGGCTTCATAGAAACAGGCCTAGATTTATAGTTTCCCATTCCCTAGGAGCTGAAGATAAGCTTTACAATATTAACAAGTTAAAAGAAAATTCTGATTTAAAACTATATATAAGTAAAATGTATACATATGTCTTGCAATAAATACACCCACACTCACTATCCAGCATTAAATATTGCCGCATCATACAAACAAATCTTAAAAAAAGAAAAAGAAGAGGAAGAACACGCACATAGAATGAACTTACCACCAAGAATTGGCTTCAATTACAACCTGGGCGAAGGAGAAAAATATGGCCAAAGCCACTAGGAAGAACTTGGAAGACATTGCACTTCCAGCCATCCCCAAAGCAACTCCTGGGCTTAATATTCCAATGGACTTCTGGAGAGGGAAGAAAGGAGCAGATGTTTATTGCCTCTCAGATAATTTTCAAGCATACAAGTTTAAACAACGGAAGCATCCGGGGTCTCTTAAGTTTACTGTTGATTGACTGCGCTTCTCCTCCGTGAGTTTTTTGATGGCAAGATATAGGCAGTTTCTTTTTCCAAATTAATCCACCCACGCAACCTCACCAGGAAATCTGATTTCGCTGGGATCCTGTGCGCGGGGCACGCCAGCGATTACAAACGTGTCTCAATTCTGTTGAGTCAAAGCCCTGGTGCCAGGCGCTGCCTCCTTCCTGCTCGCTCGAGTCCCGCACCCCCTGGCCCCCCTCTAGTTGGTGCTGTGCTCAGTCCCTCCTGGGTAATTCACTCAGGAACCCGCTGCGGCCACCCTCCGTCCTCTCCCCAACCTGGGCCGAGCAACAAGTGGAGCCAGAATTAATTCCATGGGCGAGAGGAGCACGGAGGCGAGTGGAGCGCGCTGCCGCCAGAGGCTGCCAAGGAGGCGGGGTGGCCAGCGCGGGGGGTGGAGGATGGGGGCAGGACGCGGGAGGGAAGGGCAGGGGGTGGGGGGC
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AGGCACTTGGGGGACCTTTTGCAGGGGAGGATGCCATATGTGCTCTCATCTTCCCAGGACATCAGCTGACTTGATGATAGTATCTAGGAGGGCTGTCTCAGAGGGTGTGGAGAGGTACCACTCCCATCCACTTCCCATCGACCCAGACAGTAGTGCCGTGCAGCTGAAGACCAGAGAGCATACTTTCCAGGGACAATTAAATACAGGCTTTTGTACCAAGGGTTCTGCTTGTTCCCTGAGGAAGCAGGCTCTTTGAATCTTGGACCGCATTTAAAATAAATCTCCAGCAGAACTCAAATTCACTTAGCAAATGATAGCTTATTCTGAACATTTTGGCCCAAAACAGGCTACGTATGAAAACGAGAGGAGGATCTTAAATCAAAGCTGTGTTCAAGTGACTACACAGATAAACAGTTCCGATTGCTGTTTTCCTTCCTGGTTACCATCAGAGGTGTATGATTTTTGCTAACTCATATACATGTGAAAAAGTAGTCCCATAGGTTGAGAGGAAGGCAGTTTAGGAGGAACATAGAAGAAGGGGGAAAAGTTACCATCCTCATAGAATTTTTCAAAAGTATTTAAGTTCCCTTACAATATCAACACACGGGAGAATAAATCTACCACACTCCCAGTTAACTACATAAGACAGCCCACAGTCAGGGAAAACTCCTGTGTTCCTGAAGCTTAACTCTTAGATTCAGATCCCAGTATATACATTAGCACATTTTAATCATTAACAGAAAGGACAAAGCCCCATGAAACTTTGCAGGCTGAGGCTACAGGCCATTCTCCCATTCAGTCAGAGGAACAGCTTCCAGTCTTGTATTATTTTAGTTTATAAAACCACTTGGCTCAAACATCCCCTGACAACTCTTTTTTGTTCTCAATGAATGTAATTTTCGGGGTTTTTTTTTTAATAAAAAATGCATTTTATCCATCTGTGATGGACATTAAGCCAACTTTTCTCTTCAGTCAGTATAGACAGTTAATTGCCTTGATAAATTGCTTCTTACTTTGGGAGTCACTGCAGTCATATTAATTATAAGGGCTTTTTTGCATAAAAGTAGAGAAACCTAAAATATTCACACTAGAAAACATACATTGGACCACATCTGTCAAATAGTATCCTATACTATTTAAACAAAAGCAGAGGCAAACAAACAGATTTTTTAAAATCTTTGCCTTTAGCCCATTTGAAATGCTATCTCTTTGAATGGGGAAGTAAGACATTCAACAACGTATTTAAAATGAAGAATCGGACTGTGAGCAATACTCTTAATTTTTTTTTCAAGTTCCTAGGTTGACATCCCAAGCATGTGCTTTTATTATATCAATTGCTGACATCACAAACATAAATTGGATCACTTTTAATTAAAATTCTTTCTGGGACTAAAAATAAAGCTTTTAACGTCTATATCTTTATAGCCTCAGGAAATAGTTCTATTAGGAAAATTAAAACTTTGTTCACTTTCAATATATCCAGGATTCTAAAAGACGGCAACTTTTAGTTCGATGCTCGGGCCGTTTCAATTGTGGCTTAAAAAACTAACAGGCAAGAGAGTTTCGACGTTTAAAAGCATATACATGACTTGCTTCCCCCACCTACTCTTAAGAAACCAAAATAAGTGTTCTGCTTCTATTTTAAACAAAATGCTTTATAGAAAAATTAAGTGTTTGCAAAAATGAAGGTGTCTGTGATACTTGCCTCCTGATTTGATTAAAATCCAAAACTTATCATCAGGTGTAGGGACAGGAATTAACATCATTTGCTATAATGACAAAAATGCCCAAGCCACCACCCGAGCTGGAAGGCATCCTCCTTCATGCTTTCTATCAAGCATGAAGTAAATGCTAAGGATTTCTTCTAGGAAAAAAAGTTAATGTTTTAAAAAAATATTTTAAATGTTTTCCTACCTATCTGCATCACCCTGCCAAAAACAGAGGTGTTATCCACAGTGCTGCAGTTCCACCTTCGATGTCGGAATTGATACTGGCATTCTTTGATGCCTGTCTTCGCGCCTTCTCCGATGTACTGCATGTGGTCCTGACACAAGTGGCACAGTTTCTTCTGTCCTTGAGAAAGTCCTGCCAGTTGGCTGCAGAGAGGCTGTGCTCCTATAATATATACTTCTGACATCTGAACAGGGTTATTCATACCTAGCGACCTGCAAGGGGGGGAGATGTGCATTCAAGATTTACGTGAAATCTCGAGGTGGGCCCCCTGAAAGCATGTCAGCAATACATAGTTTTAAGCACACAGATGCTTTTTTCTCTCCTGCTTGTCCTCATGACAAAGTATGAGAAGGGCTTCATAAAACTCCTCTGTTTAAACTGCACTCAGAAAACGGAGGTATTGTGCAGTCCCCATCCTGCCATCTGGCTCCTCAGTTAGTATTTTCACTCCCTTCCTAGCCCCTGTCACCATATACCTGAACCAGTATTTCCAAAATCCACTCAGAAAAGGAGGAAACAGCAGTTTGAGGGACAGGCCTCTGACATTAGAGAAAGTGACCCACTTTGCCCCACAAATTGGACCAATCTGCCTTGAAAACTTATGAATGCTGAAAGTAGACACAATTAGATACGGGTAGGAGATAGCAGTTCCTTTTGACTGATGGAAGAACAGAGGGACAAGTATACAGACTGGAGAAAATTCACCATGTTTCTTGACATTTTAAAAGGGCTCCTTATGTGATTGTGAGGGACCCAAGACAGGGTACCCAGTGAACAGAAGTCATGTTTGACAGTCAGAAAAATGCTGTTCATTTACAGGGAAAAAAATACCCAGAATGCCGTCAAAAATAATCCTCTGGATATATTACAGTCTATCTACAAGGCCCCTACCCAGAAAGAAACCCCCACTTGGGGACATTTGACTACTTCAAGTTAACCTCCTTTTGATTACATTTCAAGCCCCAATACTTCTGCACTTGGAGTGTAGCTGTCCTCCTAGAACTCTGCCTAATTCAAACTCTGTAGGTTAATAATAATCTCGAGTAACAGAAGATAAAGGCTGAAACTCACTTTTACTACCTAGAGGTGGCAAAAAGTAAATTTTGTAGATAGGCTTACAATTACTAGCAAAGTGAATTTCTGTTCTTTTTTATTGCATGATGTACTACAAGCACACGTCTGAACAAGGGCTTCATAGAAACAGGCCTAGATTTATAGTTTCCCATTCCCTAGGAGCTGAAGATAAGCTTTACAATATTAACAAGTTAAAAGAAAATTCTGATTTAAAACTATATATAAGTAAAATGTATACATATGTCTTGCAATAAATACACCCACACTCACTATCCAGCATTAAATATTGCCGCATCATACAAACAAATCTTAAAAAAAGAAAAAGAAGAGGAAGAACACGCACATAGAATGAACTTACCACCAAGAATTGGCTTCAATTACAACCTGGGCGAAGGAGAAAAATATGGCCAAAGCCACTAGGAAGAACTTGGAAGACATTGCACTTCCAGCCATCCCCAAAGCAACTCCTGGGCTTAATATTCCAATGGACTTCTGGAGAGGGAAGAAAGGAGCAGATGTTTATTGCCTCTCAGATAATTTTCAAGCATACAAGTTTAAACAACGGAAGCATCCGGGGTCTCTTAAGTTTACTGTTGATTGACTGCGCTTCTCCTCCGTGAGTTTTTTGATGGCAAGATATAGGCAGTTTCTTTTTCCAAATTAATCCACCCACGCAACCTCACCAGGAAATCTGATTTCGCTGGGATCCTGTGCGCGGGGCACGCCAGCGATTACAAACGTGTCTCAATTCTGTTGAGTCAAAGCCCTGGTGCCAGGCGCTGCCTCCTTCCTGCTCGCTCGAGTCCCGCACCCCCTGGCCCCCCTCTAGTTGGTGCTGTGCTCAGTCCCTCCTGGGTAATTCACTCAGGAACCCGCTGCGGCCACCCTCCGTCCTCTCCCCAACCTGGGCCGAGCAACAAGTGGAGCCAGAATTAATTCCATGGGCGAGAGGAGCACGGAGGCGAGTGGAGCGCGCTGCCGCCAGAGGCTGCCAAGGAGGCGGGGTGGCCAGCGCGGGGGGTGGAGGATGGGGGCAGGACGCGGGAGGGAAGGGCAGGGGGTGGGGGGC
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Task1_train_7092
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A variant found in Chromosome 3 affects WNT5A (Wnt family member 5A). Please analyze its biological impact: is it benign or pathogenic, and what condition might it cause?
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Pathogenic; Autosomal dominant Robinow syndrome 1
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GGGGACCTTTTGCAGGGGAGGATGCCATATGTGCTCTCATCTTCCCAGGACATCAGCTGACTTGATGATAGTATCTAGGAGGGCTGTCTCAGAGGGTGTGGAGAGGTACCACTCCCATCCACTTCCCATCGACCCAGACAGTAGTGCCGTGCAGCTGAAGACCAGAGAGCATACTTTCCAGGGACAATTAAATACAGGCTTTTGTACCAAGGGTTCTGCTTGTTCCCTGAGGAAGCAGGCTCTTTGAATCTTGGACCGCATTTAAAATAAATCTCCAGCAGAACTCAAATTCACTTAGCAAATGATAGCTTATTCTGAACATTTTGGCCCAAAACAGGCTACGTATGAAAACGAGAGGAGGATCTTAAATCAAAGCTGTGTTCAAGTGACTACACAGATAAACAGTTCCGATTGCTGTTTTCCTTCCTGGTTACCATCAGAGGTGTATGATTTTTGCTAACTCATATACATGTGAAAAAGTAGTCCCATAGGTTGAGAGGAAGGCAGTTTAGGAGGAACATAGAAGAAGGGGGAAAAGTTACCATCCTCATAGAATTTTTCAAAAGTATTTAAGTTCCCTTACAATATCAACACACGGGAGAATAAATCTACCACACTCCCAGTTAACTACATAAGACAGCCCACAGTCAGGGAAAACTCCTGTGTTCCTGAAGCTTAACTCTTAGATTCAGATCCCAGTATATACATTAGCACATTTTAATCATTAACAGAAAGGACAAAGCCCCATGAAACTTTGCAGGCTGAGGCTACAGGCCATTCTCCCATTCAGTCAGAGGAACAGCTTCCAGTCTTGTATTATTTTAGTTTATAAAACCACTTGGCTCAAACATCCCCTGACAACTCTTTTTTGTTCTCAATGAATGTAATTTTCGGGGTTTTTTTTTTAATAAAAAATGCATTTTATCCATCTGTGATGGACATTAAGCCAACTTTTCTCTTCAGTCAGTATAGACAGTTAATTGCCTTGATAAATTGCTTCTTACTTTGGGAGTCACTGCAGTCATATTAATTATAAGGGCTTTTTTGCATAAAAGTAGAGAAACCTAAAATATTCACACTAGAAAACATACATTGGACCACATCTGTCAAATAGTATCCTATACTATTTAAACAAAAGCAGAGGCAAACAAACAGATTTTTTAAAATCTTTGCCTTTAGCCCATTTGAAATGCTATCTCTTTGAATGGGGAAGTAAGACATTCAACAACGTATTTAAAATGAAGAATCGGACTGTGAGCAATACTCTTAATTTTTTTTTCAAGTTCCTAGGTTGACATCCCAAGCATGTGCTTTTATTATATCAATTGCTGACATCACAAACATAAATTGGATCACTTTTAATTAAAATTCTTTCTGGGACTAAAAATAAAGCTTTTAACGTCTATATCTTTATAGCCTCAGGAAATAGTTCTATTAGGAAAATTAAAACTTTGTTCACTTTCAATATATCCAGGATTCTAAAAGACGGCAACTTTTAGTTCGATGCTCGGGCCGTTTCAATTGTGGCTTAAAAAACTAACAGGCAAGAGAGTTTCGACGTTTAAAAGCATATACATGACTTGCTTCCCCCACCTACTCTTAAGAAACCAAAATAAGTGTTCTGCTTCTATTTTAAACAAAATGCTTTATAGAAAAATTAAGTGTTTGCAAAAATGAAGGTGTCTGTGATACTTGCCTCCTGATTTGATTAAAATCCAAAACTTATCATCAGGTGTAGGGACAGGAATTAACATCATTTGCTATAATGACAAAAATGCCCAAGCCACCACCCGAGCTGGAAGGCATCCTCCTTCATGCTTTCTATCAAGCATGAAGTAAATGCTAAGGATTTCTTCTAGGAAAAAAAGTTAATGTTTTAAAAAAATATTTTAAATGTTTTCCTACCTATCTGCATCACCCTGCCAAAAACAGAGGTGTTATCCACAGTGCTGCAGTTCCACCTTCGATGTCGGAATTGATACTGGCATTCTTTGATGCCTGTCTTCGCGCCTTCTCCGATGTACTGCATGTGGTCCTGATACAAGTGGCACAGTTTCTTCTGTCCTTGAGAAAGTCCTGCCAGTTGGCTGCAGAGAGGCTGTGCTCCTATAATATATACTTCTGACATCTGAACAGGGTTATTCATACCTAGCGACCTGCAAGGGGGGGAGATGTGCATTCAAGATTTACGTGAAATCTCGAGGTGGGCCCCCTGAAAGCATGTCAGCAATACATAGTTTTAAGCACACAGATGCTTTTTTCTCTCCTGCTTGTCCTCATGACAAAGTATGAGAAGGGCTTCATAAAACTCCTCTGTTTAAACTGCACTCAGAAAACGGAGGTATTGTGCAGTCCCCATCCTGCCATCTGGCTCCTCAGTTAGTATTTTCACTCCCTTCCTAGCCCCTGTCACCATATACCTGAACCAGTATTTCCAAAATCCACTCAGAAAAGGAGGAAACAGCAGTTTGAGGGACAGGCCTCTGACATTAGAGAAAGTGACCCACTTTGCCCCACAAATTGGACCAATCTGCCTTGAAAACTTATGAATGCTGAAAGTAGACACAATTAGATACGGGTAGGAGATAGCAGTTCCTTTTGACTGATGGAAGAACAGAGGGACAAGTATACAGACTGGAGAAAATTCACCATGTTTCTTGACATTTTAAAAGGGCTCCTTATGTGATTGTGAGGGACCCAAGACAGGGTACCCAGTGAACAGAAGTCATGTTTGACAGTCAGAAAAATGCTGTTCATTTACAGGGAAAAAAATACCCAGAATGCCGTCAAAAATAATCCTCTGGATATATTACAGTCTATCTACAAGGCCCCTACCCAGAAAGAAACCCCCACTTGGGGACATTTGACTACTTCAAGTTAACCTCCTTTTGATTACATTTCAAGCCCCAATACTTCTGCACTTGGAGTGTAGCTGTCCTCCTAGAACTCTGCCTAATTCAAACTCTGTAGGTTAATAATAATCTCGAGTAACAGAAGATAAAGGCTGAAACTCACTTTTACTACCTAGAGGTGGCAAAAAGTAAATTTTGTAGATAGGCTTACAATTACTAGCAAAGTGAATTTCTGTTCTTTTTTATTGCATGATGTACTACAAGCACACGTCTGAACAAGGGCTTCATAGAAACAGGCCTAGATTTATAGTTTCCCATTCCCTAGGAGCTGAAGATAAGCTTTACAATATTAACAAGTTAAAAGAAAATTCTGATTTAAAACTATATATAAGTAAAATGTATACATATGTCTTGCAATAAATACACCCACACTCACTATCCAGCATTAAATATTGCCGCATCATACAAACAAATCTTAAAAAAAGAAAAAGAAGAGGAAGAACACGCACATAGAATGAACTTACCACCAAGAATTGGCTTCAATTACAACCTGGGCGAAGGAGAAAAATATGGCCAAAGCCACTAGGAAGAACTTGGAAGACATTGCACTTCCAGCCATCCCCAAAGCAACTCCTGGGCTTAATATTCCAATGGACTTCTGGAGAGGGAAGAAAGGAGCAGATGTTTATTGCCTCTCAGATAATTTTCAAGCATACAAGTTTAAACAACGGAAGCATCCGGGGTCTCTTAAGTTTACTGTTGATTGACTGCGCTTCTCCTCCGTGAGTTTTTTGATGGCAAGATATAGGCAGTTTCTTTTTCCAAATTAATCCACCCACGCAACCTCACCAGGAAATCTGATTTCGCTGGGATCCTGTGCGCGGGGCACGCCAGCGATTACAAACGTGTCTCAATTCTGTTGAGTCAAAGCCCTGGTGCCAGGCGCTGCCTCCTTCCTGCTCGCTCGAGTCCCGCACCCCCTGGCCCCCCTCTAGTTGGTGCTGTGCTCAGTCCCTCCTGGGTAATTCACTCAGGAACCCGCTGCGGCCACCCTCCGTCCTCTCCCCAACCTGGGCCGAGCAACAAGTGGAGCCAGAATTAATTCCATGGGCGAGAGGAGCACGGAGGCGAGTGGAGCGCGCTGCCGCCAGAGGCTGCCAAGGAGGCGGGGTGGCCAGCGCGGGGGGTGGAGGATGGGGGCAGGACGCGGGAGGGAAGGGCAGGGGGTGGGGGGCGAGGCCCCG
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GGGGACCTTTTGCAGGGGAGGATGCCATATGTGCTCTCATCTTCCCAGGACATCAGCTGACTTGATGATAGTATCTAGGAGGGCTGTCTCAGAGGGTGTGGAGAGGTACCACTCCCATCCACTTCCCATCGACCCAGACAGTAGTGCCGTGCAGCTGAAGACCAGAGAGCATACTTTCCAGGGACAATTAAATACAGGCTTTTGTACCAAGGGTTCTGCTTGTTCCCTGAGGAAGCAGGCTCTTTGAATCTTGGACCGCATTTAAAATAAATCTCCAGCAGAACTCAAATTCACTTAGCAAATGATAGCTTATTCTGAACATTTTGGCCCAAAACAGGCTACGTATGAAAACGAGAGGAGGATCTTAAATCAAAGCTGTGTTCAAGTGACTACACAGATAAACAGTTCCGATTGCTGTTTTCCTTCCTGGTTACCATCAGAGGTGTATGATTTTTGCTAACTCATATACATGTGAAAAAGTAGTCCCATAGGTTGAGAGGAAGGCAGTTTAGGAGGAACATAGAAGAAGGGGGAAAAGTTACCATCCTCATAGAATTTTTCAAAAGTATTTAAGTTCCCTTACAATATCAACACACGGGAGAATAAATCTACCACACTCCCAGTTAACTACATAAGACAGCCCACAGTCAGGGAAAACTCCTGTGTTCCTGAAGCTTAACTCTTAGATTCAGATCCCAGTATATACATTAGCACATTTTAATCATTAACAGAAAGGACAAAGCCCCATGAAACTTTGCAGGCTGAGGCTACAGGCCATTCTCCCATTCAGTCAGAGGAACAGCTTCCAGTCTTGTATTATTTTAGTTTATAAAACCACTTGGCTCAAACATCCCCTGACAACTCTTTTTTGTTCTCAATGAATGTAATTTTCGGGGTTTTTTTTTTAATAAAAAATGCATTTTATCCATCTGTGATGGACATTAAGCCAACTTTTCTCTTCAGTCAGTATAGACAGTTAATTGCCTTGATAAATTGCTTCTTACTTTGGGAGTCACTGCAGTCATATTAATTATAAGGGCTTTTTTGCATAAAAGTAGAGAAACCTAAAATATTCACACTAGAAAACATACATTGGACCACATCTGTCAAATAGTATCCTATACTATTTAAACAAAAGCAGAGGCAAACAAACAGATTTTTTAAAATCTTTGCCTTTAGCCCATTTGAAATGCTATCTCTTTGAATGGGGAAGTAAGACATTCAACAACGTATTTAAAATGAAGAATCGGACTGTGAGCAATACTCTTAATTTTTTTTTCAAGTTCCTAGGTTGACATCCCAAGCATGTGCTTTTATTATATCAATTGCTGACATCACAAACATAAATTGGATCACTTTTAATTAAAATTCTTTCTGGGACTAAAAATAAAGCTTTTAACGTCTATATCTTTATAGCCTCAGGAAATAGTTCTATTAGGAAAATTAAAACTTTGTTCACTTTCAATATATCCAGGATTCTAAAAGACGGCAACTTTTAGTTCGATGCTCGGGCCGTTTCAATTGTGGCTTAAAAAACTAACAGGCAAGAGAGTTTCGACGTTTAAAAGCATATACATGACTTGCTTCCCCCACCTACTCTTAAGAAACCAAAATAAGTGTTCTGCTTCTATTTTAAACAAAATGCTTTATAGAAAAATTAAGTGTTTGCAAAAATGAAGGTGTCTGTGATACTTGCCTCCTGATTTGATTAAAATCCAAAACTTATCATCAGGTGTAGGGACAGGAATTAACATCATTTGCTATAATGACAAAAATGCCCAAGCCACCACCCGAGCTGGAAGGCATCCTCCTTCATGCTTTCTATCAAGCATGAAGTAAATGCTAAGGATTTCTTCTAGGAAAAAAAGTTAATGTTTTAAAAAAATATTTTAAATGTTTTCCTACCTATCTGCATCACCCTGCCAAAAACAGAGGTGTTATCCACAGTGCTGCAGTTCCACCTTCGATGTCGGAATTGATACTGGCATTCTTTGATGCCTGTCTTCGCGCCTTCTCCGATGTACTGCATGTGGTCCTGATACAAGTGGGACAGTTTCTTCTGTCCTTGAGAAAGTCCTGCCAGTTGGCTGCAGAGAGGCTGTGCTCCTATAATATATACTTCTGACATCTGAACAGGGTTATTCATACCTAGCGACCTGCAAGGGGGGGAGATGTGCATTCAAGATTTACGTGAAATCTCGAGGTGGGCCCCCTGAAAGCATGTCAGCAATACATAGTTTTAAGCACACAGATGCTTTTTTCTCTCCTGCTTGTCCTCATGACAAAGTATGAGAAGGGCTTCATAAAACTCCTCTGTTTAAACTGCACTCAGAAAACGGAGGTATTGTGCAGTCCCCATCCTGCCATCTGGCTCCTCAGTTAGTATTTTCACTCCCTTCCTAGCCCCTGTCACCATATACCTGAACCAGTATTTCCAAAATCCACTCAGAAAAGGAGGAAACAGCAGTTTGAGGGACAGGCCTCTGACATTAGAGAAAGTGACCCACTTTGCCCCACAAATTGGACCAATCTGCCTTGAAAACTTATGAATGCTGAAAGTAGACACAATTAGATACGGGTAGGAGATAGCAGTTCCTTTTGACTGATGGAAGAACAGAGGGACAAGTATACAGACTGGAGAAAATTCACCATGTTTCTTGACATTTTAAAAGGGCTCCTTATGTGATTGTGAGGGACCCAAGACAGGGTACCCAGTGAACAGAAGTCATGTTTGACAGTCAGAAAAATGCTGTTCATTTACAGGGAAAAAAATACCCAGAATGCCGTCAAAAATAATCCTCTGGATATATTACAGTCTATCTACAAGGCCCCTACCCAGAAAGAAACCCCCACTTGGGGACATTTGACTACTTCAAGTTAACCTCCTTTTGATTACATTTCAAGCCCCAATACTTCTGCACTTGGAGTGTAGCTGTCCTCCTAGAACTCTGCCTAATTCAAACTCTGTAGGTTAATAATAATCTCGAGTAACAGAAGATAAAGGCTGAAACTCACTTTTACTACCTAGAGGTGGCAAAAAGTAAATTTTGTAGATAGGCTTACAATTACTAGCAAAGTGAATTTCTGTTCTTTTTTATTGCATGATGTACTACAAGCACACGTCTGAACAAGGGCTTCATAGAAACAGGCCTAGATTTATAGTTTCCCATTCCCTAGGAGCTGAAGATAAGCTTTACAATATTAACAAGTTAAAAGAAAATTCTGATTTAAAACTATATATAAGTAAAATGTATACATATGTCTTGCAATAAATACACCCACACTCACTATCCAGCATTAAATATTGCCGCATCATACAAACAAATCTTAAAAAAAGAAAAAGAAGAGGAAGAACACGCACATAGAATGAACTTACCACCAAGAATTGGCTTCAATTACAACCTGGGCGAAGGAGAAAAATATGGCCAAAGCCACTAGGAAGAACTTGGAAGACATTGCACTTCCAGCCATCCCCAAAGCAACTCCTGGGCTTAATATTCCAATGGACTTCTGGAGAGGGAAGAAAGGAGCAGATGTTTATTGCCTCTCAGATAATTTTCAAGCATACAAGTTTAAACAACGGAAGCATCCGGGGTCTCTTAAGTTTACTGTTGATTGACTGCGCTTCTCCTCCGTGAGTTTTTTGATGGCAAGATATAGGCAGTTTCTTTTTCCAAATTAATCCACCCACGCAACCTCACCAGGAAATCTGATTTCGCTGGGATCCTGTGCGCGGGGCACGCCAGCGATTACAAACGTGTCTCAATTCTGTTGAGTCAAAGCCCTGGTGCCAGGCGCTGCCTCCTTCCTGCTCGCTCGAGTCCCGCACCCCCTGGCCCCCCTCTAGTTGGTGCTGTGCTCAGTCCCTCCTGGGTAATTCACTCAGGAACCCGCTGCGGCCACCCTCCGTCCTCTCCCCAACCTGGGCCGAGCAACAAGTGGAGCCAGAATTAATTCCATGGGCGAGAGGAGCACGGAGGCGAGTGGAGCGCGCTGCCGCCAGAGGCTGCCAAGGAGGCGGGGTGGCCAGCGCGGGGGGTGGAGGATGGGGGCAGGACGCGGGAGGGAAGGGCAGGGGGTGGGGGGCGAGGCCCCG
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Task1_train_7093
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This variant affects the gene WNT5A (Wnt family member 5A) found on Chromosome 3. What is the clinical effect of this variant — benign or pathogenic? State the disease if applicable.
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Pathogenic; Autosomal dominant Robinow syndrome 1
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TCCCAGGACATCAGCTGACTTGATGATAGTATCTAGGAGGGCTGTCTCAGAGGGTGTGGAGAGGTACCACTCCCATCCACTTCCCATCGACCCAGACAGTAGTGCCGTGCAGCTGAAGACCAGAGAGCATACTTTCCAGGGACAATTAAATACAGGCTTTTGTACCAAGGGTTCTGCTTGTTCCCTGAGGAAGCAGGCTCTTTGAATCTTGGACCGCATTTAAAATAAATCTCCAGCAGAACTCAAATTCACTTAGCAAATGATAGCTTATTCTGAACATTTTGGCCCAAAACAGGCTACGTATGAAAACGAGAGGAGGATCTTAAATCAAAGCTGTGTTCAAGTGACTACACAGATAAACAGTTCCGATTGCTGTTTTCCTTCCTGGTTACCATCAGAGGTGTATGATTTTTGCTAACTCATATACATGTGAAAAAGTAGTCCCATAGGTTGAGAGGAAGGCAGTTTAGGAGGAACATAGAAGAAGGGGGAAAAGTTACCATCCTCATAGAATTTTTCAAAAGTATTTAAGTTCCCTTACAATATCAACACACGGGAGAATAAATCTACCACACTCCCAGTTAACTACATAAGACAGCCCACAGTCAGGGAAAACTCCTGTGTTCCTGAAGCTTAACTCTTAGATTCAGATCCCAGTATATACATTAGCACATTTTAATCATTAACAGAAAGGACAAAGCCCCATGAAACTTTGCAGGCTGAGGCTACAGGCCATTCTCCCATTCAGTCAGAGGAACAGCTTCCAGTCTTGTATTATTTTAGTTTATAAAACCACTTGGCTCAAACATCCCCTGACAACTCTTTTTTGTTCTCAATGAATGTAATTTTCGGGGTTTTTTTTTTAATAAAAAATGCATTTTATCCATCTGTGATGGACATTAAGCCAACTTTTCTCTTCAGTCAGTATAGACAGTTAATTGCCTTGATAAATTGCTTCTTACTTTGGGAGTCACTGCAGTCATATTAATTATAAGGGCTTTTTTGCATAAAAGTAGAGAAACCTAAAATATTCACACTAGAAAACATACATTGGACCACATCTGTCAAATAGTATCCTATACTATTTAAACAAAAGCAGAGGCAAACAAACAGATTTTTTAAAATCTTTGCCTTTAGCCCATTTGAAATGCTATCTCTTTGAATGGGGAAGTAAGACATTCAACAACGTATTTAAAATGAAGAATCGGACTGTGAGCAATACTCTTAATTTTTTTTTCAAGTTCCTAGGTTGACATCCCAAGCATGTGCTTTTATTATATCAATTGCTGACATCACAAACATAAATTGGATCACTTTTAATTAAAATTCTTTCTGGGACTAAAAATAAAGCTTTTAACGTCTATATCTTTATAGCCTCAGGAAATAGTTCTATTAGGAAAATTAAAACTTTGTTCACTTTCAATATATCCAGGATTCTAAAAGACGGCAACTTTTAGTTCGATGCTCGGGCCGTTTCAATTGTGGCTTAAAAAACTAACAGGCAAGAGAGTTTCGACGTTTAAAAGCATATACATGACTTGCTTCCCCCACCTACTCTTAAGAAACCAAAATAAGTGTTCTGCTTCTATTTTAAACAAAATGCTTTATAGAAAAATTAAGTGTTTGCAAAAATGAAGGTGTCTGTGATACTTGCCTCCTGATTTGATTAAAATCCAAAACTTATCATCAGGTGTAGGGACAGGAATTAACATCATTTGCTATAATGACAAAAATGCCCAAGCCACCACCCGAGCTGGAAGGCATCCTCCTTCATGCTTTCTATCAAGCATGAAGTAAATGCTAAGGATTTCTTCTAGGAAAAAAAGTTAATGTTTTAAAAAAATATTTTAAATGTTTTCCTACCTATCTGCATCACCCTGCCAAAAACAGAGGTGTTATCCACAGTGCTGCAGTTCCACCTTCGATGTCGGAATTGATACTGGCATTCTTTGATGCCTGTCTTCGCGCCTTCTCCGATGTACTGCATGTGGTCCTGATACAAGTGGCACAGTTTCTTCTGTCCTTGAGAAAGTCCTGCCAGTTGGCTGCAGAGAGGCTGTGCTCCTATAATATATACTTCTGACATCTGAACAGGGTTATTCATACCTAGCGACCTGCAAGGGGGGGAGATGTGCATTCAAGATTTACGTGAAATCTCGAGGTGGGCCCCCTGAAAGCATGTCAGCAATACATAGTTTTAAGCACACAGATGCTTTTTTCTCTCCTGCTTGTCCTCATGACAAAGTATGAGAAGGGCTTCATAAAACTCCTCTGTTTAAACTGCACTCAGAAAACGGAGGTATTGTGCAGTCCCCATCCTGCCATCTGGCTCCTCAGTTAGTATTTTCACTCCCTTCCTAGCCCCTGTCACCATATACCTGAACCAGTATTTCCAAAATCCACTCAGAAAAGGAGGAAACAGCAGTTTGAGGGACAGGCCTCTGACATTAGAGAAAGTGACCCACTTTGCCCCACAAATTGGACCAATCTGCCTTGAAAACTTATGAATGCTGAAAGTAGACACAATTAGATACGGGTAGGAGATAGCAGTTCCTTTTGACTGATGGAAGAACAGAGGGACAAGTATACAGACTGGAGAAAATTCACCATGTTTCTTGACATTTTAAAAGGGCTCCTTATGTGATTGTGAGGGACCCAAGACAGGGTACCCAGTGAACAGAAGTCATGTTTGACAGTCAGAAAAATGCTGTTCATTTACAGGGAAAAAAATACCCAGAATGCCGTCAAAAATAATCCTCTGGATATATTACAGTCTATCTACAAGGCCCCTACCCAGAAAGAAACCCCCACTTGGGGACATTTGACTACTTCAAGTTAACCTCCTTTTGATTACATTTCAAGCCCCAATACTTCTGCACTTGGAGTGTAGCTGTCCTCCTAGAACTCTGCCTAATTCAAACTCTGTAGGTTAATAATAATCTCGAGTAACAGAAGATAAAGGCTGAAACTCACTTTTACTACCTAGAGGTGGCAAAAAGTAAATTTTGTAGATAGGCTTACAATTACTAGCAAAGTGAATTTCTGTTCTTTTTTATTGCATGATGTACTACAAGCACACGTCTGAACAAGGGCTTCATAGAAACAGGCCTAGATTTATAGTTTCCCATTCCCTAGGAGCTGAAGATAAGCTTTACAATATTAACAAGTTAAAAGAAAATTCTGATTTAAAACTATATATAAGTAAAATGTATACATATGTCTTGCAATAAATACACCCACACTCACTATCCAGCATTAAATATTGCCGCATCATACAAACAAATCTTAAAAAAAGAAAAAGAAGAGGAAGAACACGCACATAGAATGAACTTACCACCAAGAATTGGCTTCAATTACAACCTGGGCGAAGGAGAAAAATATGGCCAAAGCCACTAGGAAGAACTTGGAAGACATTGCACTTCCAGCCATCCCCAAAGCAACTCCTGGGCTTAATATTCCAATGGACTTCTGGAGAGGGAAGAAAGGAGCAGATGTTTATTGCCTCTCAGATAATTTTCAAGCATACAAGTTTAAACAACGGAAGCATCCGGGGTCTCTTAAGTTTACTGTTGATTGACTGCGCTTCTCCTCCGTGAGTTTTTTGATGGCAAGATATAGGCAGTTTCTTTTTCCAAATTAATCCACCCACGCAACCTCACCAGGAAATCTGATTTCGCTGGGATCCTGTGCGCGGGGCACGCCAGCGATTACAAACGTGTCTCAATTCTGTTGAGTCAAAGCCCTGGTGCCAGGCGCTGCCTCCTTCCTGCTCGCTCGAGTCCCGCACCCCCTGGCCCCCCTCTAGTTGGTGCTGTGCTCAGTCCCTCCTGGGTAATTCACTCAGGAACCCGCTGCGGCCACCCTCCGTCCTCTCCCCAACCTGGGCCGAGCAACAAGTGGAGCCAGAATTAATTCCATGGGCGAGAGGAGCACGGAGGCGAGTGGAGCGCGCTGCCGCCAGAGGCTGCCAAGGAGGCGGGGTGGCCAGCGCGGGGGGTGGAGGATGGGGGCAGGACGCGGGAGGGAAGGGCAGGGGGTGGGGGGCGAGGCCCCGGGGACCAGCGCGCGAGAGTGCCCAGCTGGGAAATGCAGCTCC
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TCCCAGGACATCAGCTGACTTGATGATAGTATCTAGGAGGGCTGTCTCAGAGGGTGTGGAGAGGTACCACTCCCATCCACTTCCCATCGACCCAGACAGTAGTGCCGTGCAGCTGAAGACCAGAGAGCATACTTTCCAGGGACAATTAAATACAGGCTTTTGTACCAAGGGTTCTGCTTGTTCCCTGAGGAAGCAGGCTCTTTGAATCTTGGACCGCATTTAAAATAAATCTCCAGCAGAACTCAAATTCACTTAGCAAATGATAGCTTATTCTGAACATTTTGGCCCAAAACAGGCTACGTATGAAAACGAGAGGAGGATCTTAAATCAAAGCTGTGTTCAAGTGACTACACAGATAAACAGTTCCGATTGCTGTTTTCCTTCCTGGTTACCATCAGAGGTGTATGATTTTTGCTAACTCATATACATGTGAAAAAGTAGTCCCATAGGTTGAGAGGAAGGCAGTTTAGGAGGAACATAGAAGAAGGGGGAAAAGTTACCATCCTCATAGAATTTTTCAAAAGTATTTAAGTTCCCTTACAATATCAACACACGGGAGAATAAATCTACCACACTCCCAGTTAACTACATAAGACAGCCCACAGTCAGGGAAAACTCCTGTGTTCCTGAAGCTTAACTCTTAGATTCAGATCCCAGTATATACATTAGCACATTTTAATCATTAACAGAAAGGACAAAGCCCCATGAAACTTTGCAGGCTGAGGCTACAGGCCATTCTCCCATTCAGTCAGAGGAACAGCTTCCAGTCTTGTATTATTTTAGTTTATAAAACCACTTGGCTCAAACATCCCCTGACAACTCTTTTTTGTTCTCAATGAATGTAATTTTCGGGGTTTTTTTTTTAATAAAAAATGCATTTTATCCATCTGTGATGGACATTAAGCCAACTTTTCTCTTCAGTCAGTATAGACAGTTAATTGCCTTGATAAATTGCTTCTTACTTTGGGAGTCACTGCAGTCATATTAATTATAAGGGCTTTTTTGCATAAAAGTAGAGAAACCTAAAATATTCACACTAGAAAACATACATTGGACCACATCTGTCAAATAGTATCCTATACTATTTAAACAAAAGCAGAGGCAAACAAACAGATTTTTTAAAATCTTTGCCTTTAGCCCATTTGAAATGCTATCTCTTTGAATGGGGAAGTAAGACATTCAACAACGTATTTAAAATGAAGAATCGGACTGTGAGCAATACTCTTAATTTTTTTTTCAAGTTCCTAGGTTGACATCCCAAGCATGTGCTTTTATTATATCAATTGCTGACATCACAAACATAAATTGGATCACTTTTAATTAAAATTCTTTCTGGGACTAAAAATAAAGCTTTTAACGTCTATATCTTTATAGCCTCAGGAAATAGTTCTATTAGGAAAATTAAAACTTTGTTCACTTTCAATATATCCAGGATTCTAAAAGACGGCAACTTTTAGTTCGATGCTCGGGCCGTTTCAATTGTGGCTTAAAAAACTAACAGGCAAGAGAGTTTCGACGTTTAAAAGCATATACATGACTTGCTTCCCCCACCTACTCTTAAGAAACCAAAATAAGTGTTCTGCTTCTATTTTAAACAAAATGCTTTATAGAAAAATTAAGTGTTTGCAAAAATGAAGGTGTCTGTGATACTTGCCTCCTGATTTGATTAAAATCCAAAACTTATCATCAGGTGTAGGGACAGGAATTAACATCATTTGCTATAATGACAAAAATGCCCAAGCCACCACCCGAGCTGGAAGGCATCCTCCTTCATGCTTTCTATCAAGCATGAAGTAAATGCTAAGGATTTCTTCTAGGAAAAAAAGTTAATGTTTTAAAAAAATATTTTAAATGTTTTCCTACCTATCTGCATCACCCTGCCAAAAACAGAGGTGTTATCCACAGTGCTGCAGTTCCACCTTCGATGTCGGAATTGATACTGGCATTCTTTGATGCCTGTCTTCGCGCCTTCTCCGATGTACTGCATGTGGTCCTGATACAAGTGGCACAGTTTCTTCTGTCCTTGAGAAAGTCCTGCCAGTTGGCTGAAGAGAGGCTGTGCTCCTATAATATATACTTCTGACATCTGAACAGGGTTATTCATACCTAGCGACCTGCAAGGGGGGGAGATGTGCATTCAAGATTTACGTGAAATCTCGAGGTGGGCCCCCTGAAAGCATGTCAGCAATACATAGTTTTAAGCACACAGATGCTTTTTTCTCTCCTGCTTGTCCTCATGACAAAGTATGAGAAGGGCTTCATAAAACTCCTCTGTTTAAACTGCACTCAGAAAACGGAGGTATTGTGCAGTCCCCATCCTGCCATCTGGCTCCTCAGTTAGTATTTTCACTCCCTTCCTAGCCCCTGTCACCATATACCTGAACCAGTATTTCCAAAATCCACTCAGAAAAGGAGGAAACAGCAGTTTGAGGGACAGGCCTCTGACATTAGAGAAAGTGACCCACTTTGCCCCACAAATTGGACCAATCTGCCTTGAAAACTTATGAATGCTGAAAGTAGACACAATTAGATACGGGTAGGAGATAGCAGTTCCTTTTGACTGATGGAAGAACAGAGGGACAAGTATACAGACTGGAGAAAATTCACCATGTTTCTTGACATTTTAAAAGGGCTCCTTATGTGATTGTGAGGGACCCAAGACAGGGTACCCAGTGAACAGAAGTCATGTTTGACAGTCAGAAAAATGCTGTTCATTTACAGGGAAAAAAATACCCAGAATGCCGTCAAAAATAATCCTCTGGATATATTACAGTCTATCTACAAGGCCCCTACCCAGAAAGAAACCCCCACTTGGGGACATTTGACTACTTCAAGTTAACCTCCTTTTGATTACATTTCAAGCCCCAATACTTCTGCACTTGGAGTGTAGCTGTCCTCCTAGAACTCTGCCTAATTCAAACTCTGTAGGTTAATAATAATCTCGAGTAACAGAAGATAAAGGCTGAAACTCACTTTTACTACCTAGAGGTGGCAAAAAGTAAATTTTGTAGATAGGCTTACAATTACTAGCAAAGTGAATTTCTGTTCTTTTTTATTGCATGATGTACTACAAGCACACGTCTGAACAAGGGCTTCATAGAAACAGGCCTAGATTTATAGTTTCCCATTCCCTAGGAGCTGAAGATAAGCTTTACAATATTAACAAGTTAAAAGAAAATTCTGATTTAAAACTATATATAAGTAAAATGTATACATATGTCTTGCAATAAATACACCCACACTCACTATCCAGCATTAAATATTGCCGCATCATACAAACAAATCTTAAAAAAAGAAAAAGAAGAGGAAGAACACGCACATAGAATGAACTTACCACCAAGAATTGGCTTCAATTACAACCTGGGCGAAGGAGAAAAATATGGCCAAAGCCACTAGGAAGAACTTGGAAGACATTGCACTTCCAGCCATCCCCAAAGCAACTCCTGGGCTTAATATTCCAATGGACTTCTGGAGAGGGAAGAAAGGAGCAGATGTTTATTGCCTCTCAGATAATTTTCAAGCATACAAGTTTAAACAACGGAAGCATCCGGGGTCTCTTAAGTTTACTGTTGATTGACTGCGCTTCTCCTCCGTGAGTTTTTTGATGGCAAGATATAGGCAGTTTCTTTTTCCAAATTAATCCACCCACGCAACCTCACCAGGAAATCTGATTTCGCTGGGATCCTGTGCGCGGGGCACGCCAGCGATTACAAACGTGTCTCAATTCTGTTGAGTCAAAGCCCTGGTGCCAGGCGCTGCCTCCTTCCTGCTCGCTCGAGTCCCGCACCCCCTGGCCCCCCTCTAGTTGGTGCTGTGCTCAGTCCCTCCTGGGTAATTCACTCAGGAACCCGCTGCGGCCACCCTCCGTCCTCTCCCCAACCTGGGCCGAGCAACAAGTGGAGCCAGAATTAATTCCATGGGCGAGAGGAGCACGGAGGCGAGTGGAGCGCGCTGCCGCCAGAGGCTGCCAAGGAGGCGGGGTGGCCAGCGCGGGGGGTGGAGGATGGGGGCAGGACGCGGGAGGGAAGGGCAGGGGGTGGGGGGCGAGGCCCCGGGGACCAGCGCGCGAGAGTGCCCAGCTGGGAAATGCAGCTCC
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Task1_train_7094
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This gene mutation involves IL17RD, LOC126806689 (interleukin 17 receptor D| BRD4-independent group 4 enhancer GRCh37_chr3:57131244-57132443) on Chromosome 3. Is it associated with any clinical condition, or is it benign?
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Pathogenic; Hypogonadotropic hypogonadism 18 with anosmia
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ACATGGATTCCAGATAGACTGGCACTTGATTTCTGTGGCTATGATGTTAAAAGTGCCTTTTTTCACAAAGCATTTCAAATCAAGGTAGCCAATAGCAAACAGGCAAAGTTTGCAGAGCTCAATGAAGTCTGAATGATTAGTGCAGGTATCTTCCTGTTTTTCTTTACATATTTCCTCCCTACCTCCCACAACAGGCTCTGATCCAAGGACTAACCAAATTTGGCAAGCTGTTGTCAGACCTTATGGACATGCCTTTCAGAGCTCCATATCATTTTAGAAAATTGGAGAGTTTGTCAAGATATCCGGTAAAGGGTTGGGGCAAGGGAGAACAAGTACTGGCCAGCATTTCACTCCAAATATCCTTGTATGAGACCTCAGCTCCAAGTGGGCCATGCAACCAGGGAGATGAGCTGGGGAATCAGAGGGAGGCAGCAGCTAAAGTGGCAATGCTTAGACTCTTTCGTTTTGTTACAAAGGGGCGACCGCGTGGAGTTCATCAGTGTAGCTGCGGCAACCAAGATCTGCTTTGCATGACCCAGAAGAGAGGAGCTTGGAAGGAAGGGCAGGAGGTTCCTCCTCACCTAAGGAGAGAAGAGAGTACAGAGTCACACTGTCATTGCATTTCACTGGGCTGGGCAGGTGCTCATGGCAGAATGTGACTGGATCTGGGTTTGGACTATGGGCTCTGTATAAACGAGGCAAGAATCCCAACCAACTCAAGATGGGGCACTCTCATCCTCCTAACAGGTTCTAGTTCCCTTAGTTGAGGAAGGAAGAGATATTTCTTAAAAGTCAAGCGTTTAGGCCGGGCGCAGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGTTGAGGGATCACTTGAGGTCAGGAGTTTGAGACCAGCCTGGCCAACATGGTGAAACCCAATCTCTACTAAAGATACAAAAATTTAGCTGGGCATGGTGGCGCATGCTTGTAATCCCAGCTATTCGGGAGGCTGGGCAGAAGAATCGCTTGAACCCAGGAGGCAGAGGTTGCAGTGAGCTGAGATCATGCCATTGCAGCCTGGGCGACAGGGTGAGACTCCATCTCAAAAAAAAAAAAAAAAAGTCAAGGGTTTGTATGCATGACTCCAACTAGTTACAGACATGGTAAGGGACAGCCTGAGATGGCATCTACCTGATGCTCCCTGCAGAAGTAGGCCTTCCTAGAGAGCCCTCATACCTGGGACCCTATGCTGAAGGATAGAAAGAATACTGTACCCATGAATCCCAGACTCAATGAATGTAGCTTTAAAGACAATGGGGGCGGGGGGTGTGAACATTACAGGTCTAAAAAAGACGCATCCACAAACTGTTACCCAAGACCCTTGGGGCCCAATGTGTTTTCGTGTCTGATGTTTTTGGAGTTTAGAAAAGTGATACAGTGCATAGTCTGTATGTGGCACAACACCCCTTGCAGGGTCTGGGCAGCTCACTATAATTTAGCATTAGTATTTCTGCAACTCAAACATGTGAGTACTCCCATCACCTGGTATAAATCAAGACTACCAAACGAGCTGTGTTCTCATCAGGTTTCATTGCCCAATAAGTTGGCACCAAAAGTGGAAAAACGCTTTGACTGATTTCAGAAGCATGGTCAAAGGCTGCGGCCTGTTAGGACCCGGCCCCAAAGGCACCTTACCCAGGCCTGAAGAGGAGGACACGCTCTCCGTCAGGGAAGACGTTTCTGTCTGGTCCGTCGAGAGTCCTTCCATCAGTGGCAGAGACAGCTCGGATGAGGGCACAGACGAGTCATAGATGCCTGAGTCCCGCGGCATGTCCGAGGGGCTGCCGGCTTTCACCGTGTGCAGCAGGGGTTGCAGGGCGGCGCTACCGTCAAGGGCAGGCCGGGCCTCCCCGTCTTGGTCCAGGCCCCCATGCTGACTCTCGTGCTGGGAGTCGGCTGGTCCGGTTGCCCCAAGAACAGCCGCCTCTACCTTTAGGCAGAAGTCACTCTCAGGCCCTGGTTTGCACATGACATCATTTAAAACCAAGCCCGAATCAAATTTCTCCAAGACTGGCTCCCGGTAGCGCAGTGGAGGAGGATGGAAGGGAACGAACTGCTTTTCGAACCAGTCGGGCTCCTCGTCAATAAACTGGTGCATGTTGCAAATGGCGACGTATAGGGACCGGCCTGACTTGCTCCGGAAGTAGTTCCTTCTGCTGCCCTGTCGCGTGTGCTGCCCCGGCTCCTGGAGGCCGTGGTCTCGGGAGTGCAAGTGGGAACAGAGCTGAGGAAGATTGTCCATGAGTCTGTACTTGGTACTCAGGTCTAGGATACCGGGGACGTCTCCCTCGCAGGAATAATCAAAGTAGACGGCGATAAACTTGCTGAGCGCCGCGGACGAACTCTGCTTGGCCTGGCGGAGCTTTTCGGCAATGGCTGACACCGCCACCAGGAAGAGCTCTCCTTTCCCCGAGCCTCGGCCACCTCCTTTGTGTTTGTAGTTCTTCTTGTCCACAAAGTACTTCATACCTTTGGAACAAACCACAATGATGAACTGGGACTCGTGGATCTTCTGGATGACCCATTCTCTCTGCCCTTCTCTACAGAGGCTGAAGTCTTCCCACAGGTCCAGAGCCACCTGGAAAGAGAACAAGGCACCTCACCCATACAGAAGGCTCGGGAAGAGGCTCGGGAAGTGAGTAACAGGAAGGGAAATGTCAGAAGGAGGCCATCTCATCTGCCCCTTAACCCTTATTAGCACAGCTATGTGCAGGCTCCAGGTTACACCATACCAAGGAACAGCTAAAGTTCCGTGGGTGATGGTCACACCCTAGTCCCTCTGCAAAAACTTGCCATCCATCCATTTTTGTATCACATGGAGTCATTACCACTCCTGCCCTACAAGTGAGGGGACAGAAGCGCAGTGCTTTTGGCACCTTGCCCAAGTCACACCCTACATAGGATATCCTCAAGGAAGCAACAGGTGGTAGAGAGCACAGGACAGAGAAACTGAGGTTGGTTGATCTGGTGAGTGAGGTGCCTAGATTGGAGGGGCAGATTCTGGAGAGAAGGCTGGCAGGCTCTGAGAGGAGGATGTGGATGAGTGACTCCAAAGTGAGCTGGGAGATGGGGCTCAGGCCTGGATGCCAGTCACCCACAATTATAGGTGACTCACATCCAGACAGTGACTGACAAAGGGGACCTATCTCGACACTCTCATAGCCTCAGGCTCACCTATGTTGTTTACTAGTTGGTCCATGGCTGGAGAGGAGGCTAGTGAACTGCATTAACATGGTCATTCTGAGTAACTCACTCAGGACTGGCTAGCACCTTCCTCTATGGCTTCACACAGGTATACAAGGCTACATCTCTACAAGGCTGGTAATTGACAAAGCTTTACCCCCAAAGGCGGTCTGGTAGAGAGACTGTGGGCGTGGCTGACAAAGGAGAGAAAAATCAGACATGTGTGGCCCCTTAGAGGACTTCACCTTCTCAGACCACTTTTACCTAATTCTACCAGAAACATCTCTTGGTTATTGTGTTGATGTCTTTCCTTCTGTAGTTATTAATTCCCAATGGCTATGACGAAACACAGCAGCCACACTATCTTACAGGGAAGGGCATTCTGAAACGACTTTGTTCTCCTCTTCTGCTCTAAGATGTTACCAATGGGGAAAAAGCCCCAACATCCATCCACTTGCTGAAAATAACCCTGAATTGTCTTATACTTTCCTTAATTCTTGTTAACATTACACATGCTAAAAGCTCAGTGGGAGTATATACCAAGCATTTTTTAAATGTTTCTATCTTTGACCCAGCAATTCCATTTCCAGGCATCTTTCTTGGGAAATCATCACAAATGGGACAATATTGAACCACTGAGATGTTTAATATTTGTATTAACTCAGTTATGGCAAATCAATATGGAGGATCATGTAGCTATTTAAAATTGCAGTTGACATATAACTACTAATAGTGTAAAAAATTATTAAGAGACTGCAAAAAATCATTTCAATCAGCCCCAAAGGCAAAACTGTACGTGTGAGTTCACCTATATGGAAAAAGACTGGAAGGAAATAAACCACACATGAAATATGAGTTCCTCTTTCTAAGATTTTCC
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ACATGGATTCCAGATAGACTGGCACTTGATTTCTGTGGCTATGATGTTAAAAGTGCCTTTTTTCACAAAGCATTTCAAATCAAGGTAGCCAATAGCAAACAGGCAAAGTTTGCAGAGCTCAATGAAGTCTGAATGATTAGTGCAGGTATCTTCCTGTTTTTCTTTACATATTTCCTCCCTACCTCCCACAACAGGCTCTGATCCAAGGACTAACCAAATTTGGCAAGCTGTTGTCAGACCTTATGGACATGCCTTTCAGAGCTCCATATCATTTTAGAAAATTGGAGAGTTTGTCAAGATATCCGGTAAAGGGTTGGGGCAAGGGAGAACAAGTACTGGCCAGCATTTCACTCCAAATATCCTTGTATGAGACCTCAGCTCCAAGTGGGCCATGCAACCAGGGAGATGAGCTGGGGAATCAGAGGGAGGCAGCAGCTAAAGTGGCAATGCTTAGACTCTTTCGTTTTGTTACAAAGGGGCGACCGCGTGGAGTTCATCAGTGTAGCTGCGGCAACCAAGATCTGCTTTGCATGACCCAGAAGAGAGGAGCTTGGAAGGAAGGGCAGGAGGTTCCTCCTCACCTAAGGAGAGAAGAGAGTACAGAGTCACACTGTCATTGCATTTCACTGGGCTGGGCAGGTGCTCATGGCAGAATGTGACTGGATCTGGGTTTGGACTATGGGCTCTGTATAAACGAGGCAAGAATCCCAACCAACTCAAGATGGGGCACTCTCATCCTCCTAACAGGTTCTAGTTCCCTTAGTTGAGGAAGGAAGAGATATTTCTTAAAAGTCAAGCGTTTAGGCCGGGCGCAGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGTTGAGGGATCACTTGAGGTCAGGAGTTTGAGACCAGCCTGGCCAACATGGTGAAACCCAATCTCTACTAAAGATACAAAAATTTAGCTGGGCATGGTGGCGCATGCTTGTAATCCCAGCTATTCGGGAGGCTGGGCAGAAGAATCGCTTGAACCCAGGAGGCAGAGGTTGCAGTGAGCTGAGATCATGCCATTGCAGCCTGGGCGACAGGGTGAGACTCCATCTCAAAAAAAAAAAAAAAAAGTCAAGGGTTTGTATGCATGACTCCAACTAGTTACAGACATGGTAAGGGACAGCCTGAGATGGCATCTACCTGATGCTCCCTGCAGAAGTAGGCCTTCCTAGAGAGCCCTCATACCTGGGACCCTATGCTGAAGGATAGAAAGAATACTGTACCCATGAATCCCAGACTCAATGAATGTAGCTTTAAAGACAATGGGGGCGGGGGGTGTGAACATTACAGGTCTAAAAAAGACGCATCCACAAACTGTTACCCAAGACCCTTGGGGCCCAATGTGTTTTCGTGTCTGATGTTTTTGGAGTTTAGAAAAGTGATACAGTGCATAGTCTGTATGTGGCACAACACCCCTTGCAGGGTCTGGGCAGCTCACTATAATTTAGCATTAGTATTTCTGCAACTCAAACATGTGAGTACTCCCATCACCTGGTATAAATCAAGACTACCAAACGAGCTGTGTTCTCATCAGGTTTCATTGCCCAATAAGTTGGCACCAAAAGTGGAAAAACGCTTTGACTGATTTCAGAAGCATGGTCAAAGGCTGCGGCCTGTTAGGACCCGGCCCCAAAGGCACCTTACCCAGGCCTGAAGAGGAGGACACGCTCTCCGTCAGGGAAGACGTTTCTGTCTGGTCCGTCGAGAGTCCTTCCATCAGTGGCAGAGACAGCTCGGATGAGGGCACAGACGAGTCATAGATGCCTGAGTCCCGCGGCATGTCCGAGGGGCTGCCGGCTTTCACCGTGTGCAGCAGGGGTTGCAGGGCGGCGCTACCGTCAAGGGCAGGCCGGGCCTCCCCGTCTTGGTCCAGGCCCCCATGCTGACTCTCGTGCTGGGAGTCGGCTGGTCCGGTTGCCCCAAGAACAGCCGCCTCTACCTTTAGGCAGAAGTCACTCTCAGGCCCTGGTTTGCACATGACATCATTTAAAACCAAGCCCGAATCAAATTTCTCCAAGACTTGCTCCCGGTAGCGCAGTGGAGGAGGATGGAAGGGAACGAACTGCTTTTCGAACCAGTCGGGCTCCTCGTCAATAAACTGGTGCATGTTGCAAATGGCGACGTATAGGGACCGGCCTGACTTGCTCCGGAAGTAGTTCCTTCTGCTGCCCTGTCGCGTGTGCTGCCCCGGCTCCTGGAGGCCGTGGTCTCGGGAGTGCAAGTGGGAACAGAGCTGAGGAAGATTGTCCATGAGTCTGTACTTGGTACTCAGGTCTAGGATACCGGGGACGTCTCCCTCGCAGGAATAATCAAAGTAGACGGCGATAAACTTGCTGAGCGCCGCGGACGAACTCTGCTTGGCCTGGCGGAGCTTTTCGGCAATGGCTGACACCGCCACCAGGAAGAGCTCTCCTTTCCCCGAGCCTCGGCCACCTCCTTTGTGTTTGTAGTTCTTCTTGTCCACAAAGTACTTCATACCTTTGGAACAAACCACAATGATGAACTGGGACTCGTGGATCTTCTGGATGACCCATTCTCTCTGCCCTTCTCTACAGAGGCTGAAGTCTTCCCACAGGTCCAGAGCCACCTGGAAAGAGAACAAGGCACCTCACCCATACAGAAGGCTCGGGAAGAGGCTCGGGAAGTGAGTAACAGGAAGGGAAATGTCAGAAGGAGGCCATCTCATCTGCCCCTTAACCCTTATTAGCACAGCTATGTGCAGGCTCCAGGTTACACCATACCAAGGAACAGCTAAAGTTCCGTGGGTGATGGTCACACCCTAGTCCCTCTGCAAAAACTTGCCATCCATCCATTTTTGTATCACATGGAGTCATTACCACTCCTGCCCTACAAGTGAGGGGACAGAAGCGCAGTGCTTTTGGCACCTTGCCCAAGTCACACCCTACATAGGATATCCTCAAGGAAGCAACAGGTGGTAGAGAGCACAGGACAGAGAAACTGAGGTTGGTTGATCTGGTGAGTGAGGTGCCTAGATTGGAGGGGCAGATTCTGGAGAGAAGGCTGGCAGGCTCTGAGAGGAGGATGTGGATGAGTGACTCCAAAGTGAGCTGGGAGATGGGGCTCAGGCCTGGATGCCAGTCACCCACAATTATAGGTGACTCACATCCAGACAGTGACTGACAAAGGGGACCTATCTCGACACTCTCATAGCCTCAGGCTCACCTATGTTGTTTACTAGTTGGTCCATGGCTGGAGAGGAGGCTAGTGAACTGCATTAACATGGTCATTCTGAGTAACTCACTCAGGACTGGCTAGCACCTTCCTCTATGGCTTCACACAGGTATACAAGGCTACATCTCTACAAGGCTGGTAATTGACAAAGCTTTACCCCCAAAGGCGGTCTGGTAGAGAGACTGTGGGCGTGGCTGACAAAGGAGAGAAAAATCAGACATGTGTGGCCCCTTAGAGGACTTCACCTTCTCAGACCACTTTTACCTAATTCTACCAGAAACATCTCTTGGTTATTGTGTTGATGTCTTTCCTTCTGTAGTTATTAATTCCCAATGGCTATGACGAAACACAGCAGCCACACTATCTTACAGGGAAGGGCATTCTGAAACGACTTTGTTCTCCTCTTCTGCTCTAAGATGTTACCAATGGGGAAAAAGCCCCAACATCCATCCACTTGCTGAAAATAACCCTGAATTGTCTTATACTTTCCTTAATTCTTGTTAACATTACACATGCTAAAAGCTCAGTGGGAGTATATACCAAGCATTTTTTAAATGTTTCTATCTTTGACCCAGCAATTCCATTTCCAGGCATCTTTCTTGGGAAATCATCACAAATGGGACAATATTGAACCACTGAGATGTTTAATATTTGTATTAACTCAGTTATGGCAAATCAATATGGAGGATCATGTAGCTATTTAAAATTGCAGTTGACATATAACTACTAATAGTGTAAAAAATTATTAAGAGACTGCAAAAAATCATTTCAATCAGCCCCAAAGGCAAAACTGTACGTGTGAGTTCACCTATATGGAAAAAGACTGGAAGGAAATAAACCACACATGAAATATGAGTTCCTCTTTCTAAGATTTTCC
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Task1_train_7095
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A sequence alteration has been identified in IL17RD, LOC126806689 (interleukin 17 receptor D| BRD4-independent group 4 enhancer GRCh37_chr3:57131244-57132443) on Chromosome 3. Is it disease-inducing or harmless?
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Pathogenic; Hypogonadotropic hypogonadism 18 with anosmia
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AACAAGTACTGGCCAGCATTTCACTCCAAATATCCTTGTATGAGACCTCAGCTCCAAGTGGGCCATGCAACCAGGGAGATGAGCTGGGGAATCAGAGGGAGGCAGCAGCTAAAGTGGCAATGCTTAGACTCTTTCGTTTTGTTACAAAGGGGCGACCGCGTGGAGTTCATCAGTGTAGCTGCGGCAACCAAGATCTGCTTTGCATGACCCAGAAGAGAGGAGCTTGGAAGGAAGGGCAGGAGGTTCCTCCTCACCTAAGGAGAGAAGAGAGTACAGAGTCACACTGTCATTGCATTTCACTGGGCTGGGCAGGTGCTCATGGCAGAATGTGACTGGATCTGGGTTTGGACTATGGGCTCTGTATAAACGAGGCAAGAATCCCAACCAACTCAAGATGGGGCACTCTCATCCTCCTAACAGGTTCTAGTTCCCTTAGTTGAGGAAGGAAGAGATATTTCTTAAAAGTCAAGCGTTTAGGCCGGGCGCAGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGTTGAGGGATCACTTGAGGTCAGGAGTTTGAGACCAGCCTGGCCAACATGGTGAAACCCAATCTCTACTAAAGATACAAAAATTTAGCTGGGCATGGTGGCGCATGCTTGTAATCCCAGCTATTCGGGAGGCTGGGCAGAAGAATCGCTTGAACCCAGGAGGCAGAGGTTGCAGTGAGCTGAGATCATGCCATTGCAGCCTGGGCGACAGGGTGAGACTCCATCTCAAAAAAAAAAAAAAAAAGTCAAGGGTTTGTATGCATGACTCCAACTAGTTACAGACATGGTAAGGGACAGCCTGAGATGGCATCTACCTGATGCTCCCTGCAGAAGTAGGCCTTCCTAGAGAGCCCTCATACCTGGGACCCTATGCTGAAGGATAGAAAGAATACTGTACCCATGAATCCCAGACTCAATGAATGTAGCTTTAAAGACAATGGGGGCGGGGGGTGTGAACATTACAGGTCTAAAAAAGACGCATCCACAAACTGTTACCCAAGACCCTTGGGGCCCAATGTGTTTTCGTGTCTGATGTTTTTGGAGTTTAGAAAAGTGATACAGTGCATAGTCTGTATGTGGCACAACACCCCTTGCAGGGTCTGGGCAGCTCACTATAATTTAGCATTAGTATTTCTGCAACTCAAACATGTGAGTACTCCCATCACCTGGTATAAATCAAGACTACCAAACGAGCTGTGTTCTCATCAGGTTTCATTGCCCAATAAGTTGGCACCAAAAGTGGAAAAACGCTTTGACTGATTTCAGAAGCATGGTCAAAGGCTGCGGCCTGTTAGGACCCGGCCCCAAAGGCACCTTACCCAGGCCTGAAGAGGAGGACACGCTCTCCGTCAGGGAAGACGTTTCTGTCTGGTCCGTCGAGAGTCCTTCCATCAGTGGCAGAGACAGCTCGGATGAGGGCACAGACGAGTCATAGATGCCTGAGTCCCGCGGCATGTCCGAGGGGCTGCCGGCTTTCACCGTGTGCAGCAGGGGTTGCAGGGCGGCGCTACCGTCAAGGGCAGGCCGGGCCTCCCCGTCTTGGTCCAGGCCCCCATGCTGACTCTCGTGCTGGGAGTCGGCTGGTCCGGTTGCCCCAAGAACAGCCGCCTCTACCTTTAGGCAGAAGTCACTCTCAGGCCCTGGTTTGCACATGACATCATTTAAAACCAAGCCCGAATCAAATTTCTCCAAGACTGGCTCCCGGTAGCGCAGTGGAGGAGGATGGAAGGGAACGAACTGCTTTTCGAACCAGTCGGGCTCCTCGTCAATAAACTGGTGCATGTTGCAAATGGCGACGTATAGGGACCGGCCTGACTTGCTCCGGAAGTAGTTCCTTCTGCTGCCCTGTCGCGTGTGCTGCCCCGGCTCCTGGAGGCCGTGGTCTCGGGAGTGCAAGTGGGAACAGAGCTGAGGAAGATTGTCCATGAGTCTGTACTTGGTACTCAGGTCTAGGATACCGGGGACGTCTCCCTCGCAGGAATAATCAAAGTAGACGGCGATAAACTTGCTGAGCGCCGCGGACGAACTCTGCTTGGCCTGGCGGAGCTTTTCGGCAATGGCTGACACCGCCACCAGGAAGAGCTCTCCTTTCCCCGAGCCTCGGCCACCTCCTTTGTGTTTGTAGTTCTTCTTGTCCACAAAGTACTTCATACCTTTGGAACAAACCACAATGATGAACTGGGACTCGTGGATCTTCTGGATGACCCATTCTCTCTGCCCTTCTCTACAGAGGCTGAAGTCTTCCCACAGGTCCAGAGCCACCTGGAAAGAGAACAAGGCACCTCACCCATACAGAAGGCTCGGGAAGAGGCTCGGGAAGTGAGTAACAGGAAGGGAAATGTCAGAAGGAGGCCATCTCATCTGCCCCTTAACCCTTATTAGCACAGCTATGTGCAGGCTCCAGGTTACACCATACCAAGGAACAGCTAAAGTTCCGTGGGTGATGGTCACACCCTAGTCCCTCTGCAAAAACTTGCCATCCATCCATTTTTGTATCACATGGAGTCATTACCACTCCTGCCCTACAAGTGAGGGGACAGAAGCGCAGTGCTTTTGGCACCTTGCCCAAGTCACACCCTACATAGGATATCCTCAAGGAAGCAACAGGTGGTAGAGAGCACAGGACAGAGAAACTGAGGTTGGTTGATCTGGTGAGTGAGGTGCCTAGATTGGAGGGGCAGATTCTGGAGAGAAGGCTGGCAGGCTCTGAGAGGAGGATGTGGATGAGTGACTCCAAAGTGAGCTGGGAGATGGGGCTCAGGCCTGGATGCCAGTCACCCACAATTATAGGTGACTCACATCCAGACAGTGACTGACAAAGGGGACCTATCTCGACACTCTCATAGCCTCAGGCTCACCTATGTTGTTTACTAGTTGGTCCATGGCTGGAGAGGAGGCTAGTGAACTGCATTAACATGGTCATTCTGAGTAACTCACTCAGGACTGGCTAGCACCTTCCTCTATGGCTTCACACAGGTATACAAGGCTACATCTCTACAAGGCTGGTAATTGACAAAGCTTTACCCCCAAAGGCGGTCTGGTAGAGAGACTGTGGGCGTGGCTGACAAAGGAGAGAAAAATCAGACATGTGTGGCCCCTTAGAGGACTTCACCTTCTCAGACCACTTTTACCTAATTCTACCAGAAACATCTCTTGGTTATTGTGTTGATGTCTTTCCTTCTGTAGTTATTAATTCCCAATGGCTATGACGAAACACAGCAGCCACACTATCTTACAGGGAAGGGCATTCTGAAACGACTTTGTTCTCCTCTTCTGCTCTAAGATGTTACCAATGGGGAAAAAGCCCCAACATCCATCCACTTGCTGAAAATAACCCTGAATTGTCTTATACTTTCCTTAATTCTTGTTAACATTACACATGCTAAAAGCTCAGTGGGAGTATATACCAAGCATTTTTTAAATGTTTCTATCTTTGACCCAGCAATTCCATTTCCAGGCATCTTTCTTGGGAAATCATCACAAATGGGACAATATTGAACCACTGAGATGTTTAATATTTGTATTAACTCAGTTATGGCAAATCAATATGGAGGATCATGTAGCTATTTAAAATTGCAGTTGACATATAACTACTAATAGTGTAAAAAATTATTAAGAGACTGCAAAAAATCATTTCAATCAGCCCCAAAGGCAAAACTGTACGTGTGAGTTCACCTATATGGAAAAAGACTGGAAGGAAATAAACCACACATGAAATATGAGTTCCTCTTTCTAAGATTTTCCTTAATCAGTTTGGGATTCCAGACAATGTTTTATTTATCATCCTTTTCTAGTTCCAAATTTTCTACAATAACTATTACACTAATAACTGGAAGAGCGTTTTCCCCAGAGGCTAAATACTTGTGAAGTAGAGCAAACTTGGTTGCCCGTGGTATCTGAAAACTGTGTGCCATTGGCTAGAGTGTAGTTATTTTTCAGCACGTGCTGATCCACCAACCTCACGCTTTCATGCAGAGGGAAACTAGGCTAGCGTAGTATGTTATGTTGACACTAGGGGGCAGCCTCACCACATGGAGAGATTCTGAAAAACATGCCAATGGGCAGTTTCAA
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AACAAGTACTGGCCAGCATTTCACTCCAAATATCCTTGTATGAGACCTCAGCTCCAAGTGGGCCATGCAACCAGGGAGATGAGCTGGGGAATCAGAGGGAGGCAGCAGCTAAAGTGGCAATGCTTAGACTCTTTCGTTTTGTTACAAAGGGGCGACCGCGTGGAGTTCATCAGTGTAGCTGCGGCAACCAAGATCTGCTTTGCATGACCCAGAAGAGAGGAGCTTGGAAGGAAGGGCAGGAGGTTCCTCCTCACCTAAGGAGAGAAGAGAGTACAGAGTCACACTGTCATTGCATTTCACTGGGCTGGGCAGGTGCTCATGGCAGAATGTGACTGGATCTGGGTTTGGACTATGGGCTCTGTATAAACGAGGCAAGAATCCCAACCAACTCAAGATGGGGCACTCTCATCCTCCTAACAGGTTCTAGTTCCCTTAGTTGAGGAAGGAAGAGATATTTCTTAAAAGTCAAGCGTTTAGGCCGGGCGCAGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGTTGAGGGATCACTTGAGGTCAGGAGTTTGAGACCAGCCTGGCCAACATGGTGAAACCCAATCTCTACTAAAGATACAAAAATTTAGCTGGGCATGGTGGCGCATGCTTGTAATCCCAGCTATTCGGGAGGCTGGGCAGAAGAATCGCTTGAACCCAGGAGGCAGAGGTTGCAGTGAGCTGAGATCATGCCATTGCAGCCTGGGCGACAGGGTGAGACTCCATCTCAAAAAAAAAAAAAAAAAGTCAAGGGTTTGTATGCATGACTCCAACTAGTTACAGACATGGTAAGGGACAGCCTGAGATGGCATCTACCTGATGCTCCCTGCAGAAGTAGGCCTTCCTAGAGAGCCCTCATACCTGGGACCCTATGCTGAAGGATAGAAAGAATACTGTACCCATGAATCCCAGACTCAATGAATGTAGCTTTAAAGACAATGGGGGCGGGGGGTGTGAACATTACAGGTCTAAAAAAGACGCATCCACAAACTGTTACCCAAGACCCTTGGGGCCCAATGTGTTTTCGTGTCTGATGTTTTTGGAGTTTAGAAAAGTGATACAGTGCATAGTCTGTATGTGGCACAACACCCCTTGCAGGGTCTGGGCAGCTCACTATAATTTAGCATTAGTATTTCTGCAACTCAAACATGTGAGTACTCCCATCACCTGGTATAAATCAAGACTACCAAACGAGCTGTGTTCTCATCAGGTTTCATTGCCCAATAAGTTGGCACCAAAAGTGGAAAAACGCTTTGACTGATTTCAGAAGCATGGTCAAAGGCTGCGGCCTGTTAGGACCCGGCCCCAAAGGCACCTTACCCAGGCCTGAAGAGGAGGACACGCTCTCCGTCAGGGAAGACGTTTCTGTCTGGTCCGTCGAGAGTCCTTCCATCAGTGGCAGAGACAGCTCGGATGAGGGCACAGACGAGTCATAGATGCCTGAGTCCCGCGGCATGTCCGAGGGGCTGCCGGCTTTCACCGTGTGCAGCAGGGGTTGCAGGGCGGCGCTACCGTCAAGGGCAGGCCGGGCCTCCCCGTCTTGGTCCAGGCCCCCATGCTGACTCTCGTGCTGGGAGTCGGCTGGTCCGGTTGCCCCAAGAACAGCCGCCTCTACCTTTAGGCAGAAGTCACTCTCAGGCCCTGGTTTGCACATGACATCATTTAAAACCAAGCCCGAATCAAATTTCTCCAAGACTGGCTCCCGGTAGCGCAGTGGAGGAGGATGGAAGGGAACGAACTGCTTTTCGAACCAGTCGGGCTCCTCGTCAATAAACTGGTGCATGTTGCAAATGGCGACGTATAGGGACCGGCCTGACTTGCTCCGGAAGTAGTTCCTTCTGCTGCCCTGTCGCGTGTGCTGCCCCGGCTCCTGGAGGCCGTGGTCTCGGGAGTGCAAGTGGGAACAGAGCTGAGGAAGATTGTCCATGAGTCTGTACTTGGTACTCAGGTCTAGGATACCGGGGACGTCTCCCTCGCAGGAATAATCAAAGTAGACGGCGATAAACTTGCTGAGCGCCGCGGACAAACTCTGCTTGGCCTGGCGGAGCTTTTCGGCAATGGCTGACACCGCCACCAGGAAGAGCTCTCCTTTCCCCGAGCCTCGGCCACCTCCTTTGTGTTTGTAGTTCTTCTTGTCCACAAAGTACTTCATACCTTTGGAACAAACCACAATGATGAACTGGGACTCGTGGATCTTCTGGATGACCCATTCTCTCTGCCCTTCTCTACAGAGGCTGAAGTCTTCCCACAGGTCCAGAGCCACCTGGAAAGAGAACAAGGCACCTCACCCATACAGAAGGCTCGGGAAGAGGCTCGGGAAGTGAGTAACAGGAAGGGAAATGTCAGAAGGAGGCCATCTCATCTGCCCCTTAACCCTTATTAGCACAGCTATGTGCAGGCTCCAGGTTACACCATACCAAGGAACAGCTAAAGTTCCGTGGGTGATGGTCACACCCTAGTCCCTCTGCAAAAACTTGCCATCCATCCATTTTTGTATCACATGGAGTCATTACCACTCCTGCCCTACAAGTGAGGGGACAGAAGCGCAGTGCTTTTGGCACCTTGCCCAAGTCACACCCTACATAGGATATCCTCAAGGAAGCAACAGGTGGTAGAGAGCACAGGACAGAGAAACTGAGGTTGGTTGATCTGGTGAGTGAGGTGCCTAGATTGGAGGGGCAGATTCTGGAGAGAAGGCTGGCAGGCTCTGAGAGGAGGATGTGGATGAGTGACTCCAAAGTGAGCTGGGAGATGGGGCTCAGGCCTGGATGCCAGTCACCCACAATTATAGGTGACTCACATCCAGACAGTGACTGACAAAGGGGACCTATCTCGACACTCTCATAGCCTCAGGCTCACCTATGTTGTTTACTAGTTGGTCCATGGCTGGAGAGGAGGCTAGTGAACTGCATTAACATGGTCATTCTGAGTAACTCACTCAGGACTGGCTAGCACCTTCCTCTATGGCTTCACACAGGTATACAAGGCTACATCTCTACAAGGCTGGTAATTGACAAAGCTTTACCCCCAAAGGCGGTCTGGTAGAGAGACTGTGGGCGTGGCTGACAAAGGAGAGAAAAATCAGACATGTGTGGCCCCTTAGAGGACTTCACCTTCTCAGACCACTTTTACCTAATTCTACCAGAAACATCTCTTGGTTATTGTGTTGATGTCTTTCCTTCTGTAGTTATTAATTCCCAATGGCTATGACGAAACACAGCAGCCACACTATCTTACAGGGAAGGGCATTCTGAAACGACTTTGTTCTCCTCTTCTGCTCTAAGATGTTACCAATGGGGAAAAAGCCCCAACATCCATCCACTTGCTGAAAATAACCCTGAATTGTCTTATACTTTCCTTAATTCTTGTTAACATTACACATGCTAAAAGCTCAGTGGGAGTATATACCAAGCATTTTTTAAATGTTTCTATCTTTGACCCAGCAATTCCATTTCCAGGCATCTTTCTTGGGAAATCATCACAAATGGGACAATATTGAACCACTGAGATGTTTAATATTTGTATTAACTCAGTTATGGCAAATCAATATGGAGGATCATGTAGCTATTTAAAATTGCAGTTGACATATAACTACTAATAGTGTAAAAAATTATTAAGAGACTGCAAAAAATCATTTCAATCAGCCCCAAAGGCAAAACTGTACGTGTGAGTTCACCTATATGGAAAAAGACTGGAAGGAAATAAACCACACATGAAATATGAGTTCCTCTTTCTAAGATTTTCCTTAATCAGTTTGGGATTCCAGACAATGTTTTATTTATCATCCTTTTCTAGTTCCAAATTTTCTACAATAACTATTACACTAATAACTGGAAGAGCGTTTTCCCCAGAGGCTAAATACTTGTGAAGTAGAGCAAACTTGGTTGCCCGTGGTATCTGAAAACTGTGTGCCATTGGCTAGAGTGTAGTTATTTTTCAGCACGTGCTGATCCACCAACCTCACGCTTTCATGCAGAGGGAAACTAGGCTAGCGTAGTATGTTATGTTGACACTAGGGGGCAGCCTCACCACATGGAGAGATTCTGAAAAACATGCCAATGGGCAGTTTCAA
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Task1_train_7096
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The gene HESX1 (HESX homeobox 1), on Chromosome 3, contains a mutation. Does this mutation cause a disorder, or is it a benign change?
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Pathogenic; GROWTH HORMONE DEFICIENCY WITH PITUITARY ANOMALIES
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GCTTACCCATCATGTGACACATTCCCCTCCAACCCACTCCTCCAGAGCCTACTCCTGGTAACTTCCAGTCTTTCAATTTAACATAATTTCATAATAACCTAATGGAGAACAAAGAAAACTCTTTGTGGATAAATTTGAACTAATACATTTCATAAATAGTGCTTCCAATTTTTATATGAATGGAAGCAGCTCTTTATATTGGAAAAAGTGGCTCAGTCTTTTTTGGAAAACATGTAATGCCTATGTTCTTCCTAACTACCCTGTTGCCCTTCTTTTCCTCCTCCCTCTCCATCTCAGCAACAGTGGAATAGAATAAGCACGCTTATTGTTGACCAATTGTTGGGACACATAGCTCTCAACCTCAAATGTGCTCTCAGTAAATAATTTTAAAAAGCTCTAAAATCTGAGTCATGCTGCGTTTCCTTAGAAATAATATGCAAACTCCCTCTAGTCTTTTATATATAAAAAATAGTGATTATAGATTCAATAATTCAATGAGAACCTTCCACCTTGATCATCACTGGGACATCAGAAAGGACAGAGGACAGAAAGAAAAGAGAAGCAAGGGAGAATTCAATTCAAATGGACAAAGCTGAAATTTGGCTTCCAGTGGACAAAGTCAGAGTCTTAAGCTGACATTTCAAAAAAAAAAAAAAAAAAAAAAAACCACCCACTGAAGTCTTCCATTAACTGGAAAACAAATGCCCAGATTTCCAGCCGAGAGGGCTCCCTTCTTGTTATATATCTTATCCTATTCTCATCTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGCGATCTCGGCTCACGGCAAGCTCCGCCTCCCGGGTTCACGTCATTCTCCTTCCTCAGCCTCCGGAGTAGCTGCGACTACAGGCGCCCGCCACCGCGCCCAGCTAATTTTTTGTATTTTTTTAGTAGAGACGGGGTTTCACCGTGTTCTCGATCTCCTGACCTCGTGATACGCCCGCCTCGGCCTCCCAAAGTGTTGGGATTACAGGCGTGAGCCACCGCGCCCAGCCCCCCATCTTTAATTGGCAGGTAAAATGGGAAAATGGGAAATGAAAACACATAGTTTTTGTTACTTAGAAAGCACCTTGATTATTTCCAGTGACTATGTCAGAGCACTTACAAAAGGTGGGTCAGTTATCCTACCTTCTCAGTCAACTTAATATTGCAGTTGATTAGAAATCATTTAAACTGGAAATAGATATAAGCTACATGATCACTATCACTAATGAATGAAAGTAAAGTACAAAATTAAACTAGAAAACTATTTAAAATTTTGCATTTATTTGCTGCTTACTTCTTTTGTGCAATTCAATACCAATGGTATAAATATGATAGCTGATGCTTGTATATTTCTACTTTGGCATAATGACTTTGCTTGGAAAAAAAACTTGAAACTAACATACTGTAAGAATTTGTTCTGATAAATGGTGAGAAATTCTCACTGCTTTATGCTATAAATCAAGAGAAGTTGAAGATTCATGAATAAATCATAATTTATAATATAGTGAAGCATAATTATGTTTCAAAATGTGCATGGAAGAAACTAATGAAAACAACTCACACTTTTGTTCTTCAGATTATTTTACTTGAAATACTTTATAATTAGAATCCAGCTTGTGGAATCACTTAGTCATGAGTCTATTGATTTTAACAAACTAATTTATTAGATTAATTTGGCTTACTTAAAAAATAGCAATCTTTTCTGAAAATGTTTATTAAAATATATATAAAAGGTCTTTACTATAACTAAAAGTGCCCAAATATGTACCATGCTATAATAGTATTTACAATATATTTTCAGAAAAAATGACAATATTCAGATTAAATGCAGGAAAGAAAACATCACATTTTAACACTTAATATTTCCACTGATTCTTCATGCTCTGCAATTAGAAGATAATTTCACTTGTTTAGTTTTCTATCTATTCCAGCAGATTTGTGTTGAAATTTTTTTTCGCCATTAGAAACTGTGATTCTCTATGGGACCTTTTCAGTTTTGCACGCCGATTTTGAAACCAAATCTAAAGTTAAGGAAAAATAAAATAGGTCTCAGAAACATTATTTTATTATTCTTAACATTTCAACATCATGAATAACAACTAAATTTGAAAATTACCTGGATTCTGTCTTCCTCTAGATTCAATTTTTGAGCTAAGTCTTCTCTAATATCGATACCAGGATAGCAGTTTACTCTAAAGACATTTTCTAACACTTCAATCTAAGAAAAAAAAATGTTGATATTCAGTATGTCTCCAAAAATGAGCTTTAATTTCTAGAGTAAAATGACTACATTTAAATCTTGGCAATTAATCTGGATGCCTTTTTAAAAATGATTACCTGGAAATTGTTAAAATATGGTAGTCTACTGTTTCATTAATAAGGCTTCTAAACTGAGATACCAAAGTGAGTGGGCTTTTGCTCAACTTGGTGTCAATTAAAGCCTTTATATTATCATTATTGGGTGAAAAAACTTCCCACCTGGTTTTGAGTAAAAGCAGTTCTTGGTCTTCGGCCTCTATACCAACTCAACTCTCTTTTCAAAGACAGTCTTTCTGAGGCTGAAAAGTAATTTTCATATTTCGAAGCTCTTTCTTCTGGCATTGGGTGATCCACCACGCTAGGGAATGAAATCCCACTGGGAGGATTTGGGACATGTAGACATAAGTTACCATCTTTCCCTAAAAACAAAAAAATAAGCCCTGTCTTAGATGGTCAATCTTATGTTCCACAAAGTTCTATAGAGGTAGTTTCAGGAACTCATCTTTCATTTCCTAGTGGAATTCTGGGGTTCACAAGAGAATTGCACCCCGTTAACCAAAAACCAATAAAAAATGAAGATCCTGTCTTGGTAATCCTGCCTCTTTGGTCTCTGAATGTCGTTTATTTTTCAGTGAAAAGAGATTTCAAATATCTGATGTGTCAAACAGGGAGAGATCTTCTGAAGTAAATGCAGGTTCTTGGGATTTCCTGTGAGTGAATTTATCCACTTTGCTCAATCCAAAGCTGATATTCTTTTAATTTCCCATAGGACTCAGTTGGAGGCATTAAAAGTCCTAGACTCTGGCTGGGCGTGGTGGGTCATGCCTGTAATCCTAACACTTTGGGAGGCTGAGGCAGGCGGATCACCTGAGGTCAGGAGTTCGAGACTAGCCTGACCAACAGGGTGAAACCCCCCTCTACTAAAAAATACAAAAATTAGCAGGCCATGGTGGTGCATGCCTGTAATCCCAGCTACTTGGCAGGCTGAGGCAGGAGAATCGTTTGAACCCAGGAGGCGGAGGCTGCAGTGAGCCAAGATTATGCCATTGCACTCCAGTCTTGGCAACAAGACCAACACTCTGTCTCAGAAAAAAAAAAAAAATAATAAATAATAATAATAAATTAAATTAAAGTCCTAAACTCTAGCTCTATGTAGTATGAAATAAAGGGCAAATTAAACACTGTAAATGAAATAACAAAGAATTGAAACAATTAAGCTGTGGCATACCTGATGAGCTGCAGGTGTCTGCCCAGGGCCTGTGGGGTTTCATTAATGGAACACAGTCTTTCTTCTGGTCCAGTCCTAAGATTCTCTCAATTGAAAAGGAGCAAGTTGAGGGTTTGTTTTCCCCGAGCTGAGCGCCTTCCTGAAGGCTGGGAGACATCCTCTCGTGGTCTGCACAGAGCAACAGCTCTGGCCTCTGCTGGCTCTGCCCCACGTGTATAGGGCTGGGATCTTCCTGCAGTTCACCTTATAGCTCCGCTGACAAGGGGGCTGGATTTAGAACGTCACTAATTAAAATCCTGTCTTAGAAAGTTTTAGCATGTCAATGAACACTTGCCCAGCCAGCAGCTTAAGGAGTTAATTGTTTATTTGTTTGCAAGTAATTAGCAACTAATGGCTACACCAGGGGGGCCACCTACAGGGACAAAAAGTGTTATCTCTCCTAAGCAGAACACAGACTTAACTTTCTCTAAAGAAGTGATGCACAAATGTGGCACTTATCTTTTATTTGAAATCATTAATGTATAAAATCAAGCTTTTTATTCTGAAGTTTATACTTTCATGG
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GCTTACCCATCATGTGACACATTCCCCTCCAACCCACTCCTCCAGAGCCTACTCCTGGTAACTTCCAGTCTTTCAATTTAACATAATTTCATAATAACCTAATGGAGAACAAAGAAAACTCTTTGTGGATAAATTTGAACTAATACATTTCATAAATAGTGCTTCCAATTTTTATATGAATGGAAGCAGCTCTTTATATTGGAAAAAGTGGCTCAGTCTTTTTTGGAAAACATGTAATGCCTATGTTCTTCCTAACTACCCTGTTGCCCTTCTTTTCCTCCTCCCTCTCCATCTCAGCAACAGTGGAATAGAATAAGCACGCTTATTGTTGACCAATTGTTGGGACACATAGCTCTCAACCTCAAATGTGCTCTCAGTAAATAATTTTAAAAAGCTCTAAAATCTGAGTCATGCTGCGTTTCCTTAGAAATAATATGCAAACTCCCTCTAGTCTTTTATATATAAAAAATAGTGATTATAGATTCAATAATTCAATGAGAACCTTCCACCTTGATCATCACTGGGACATCAGAAAGGACAGAGGACAGAAAGAAAAGAGAAGCAAGGGAGAATTCAATTCAAATGGACAAAGCTGAAATTTGGCTTCCAGTGGACAAAGTCAGAGTCTTAAGCTGACATTTCAAAAAAAAAAAAAAAAAAAAAAAACCACCCACTGAAGTCTTCCATTAACTGGAAAACAAATGCCCAGATTTCCAGCCGAGAGGGCTCCCTTCTTGTTATATATCTTATCCTATTCTCATCTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGCGATCTCGGCTCACGGCAAGCTCCGCCTCCCGGGTTCACGTCATTCTCCTTCCTCAGCCTCCGGAGTAGCTGCGACTACAGGCGCCCGCCACCGCGCCCAGCTAATTTTTTGTATTTTTTTAGTAGAGACGGGGTTTCACCGTGTTCTCGATCTCCTGACCTCGTGATACGCCCGCCTCGGCCTCCCAAAGTGTTGGGATTACAGGCGTGAGCCACCGCGCCCAGCCCCCCATCTTTAATTGGCAGGTAAAATGGGAAAATGGGAAATGAAAACACATAGTTTTTGTTACTTAGAAAGCACCTTGATTATTTCCAGTGACTATGTCAGAGCACTTACAAAAGGTGGGTCAGTTATCCTACCTTCTCAGTCAACTTAATATTGCAGTTGATTAGAAATCATTTAAACTGGAAATAGATATAAGCTACATGATCACTATCACTAATGAATGAAAGTAAAGTACAAAATTAAACTAGAAAACTATTTAAAATTTTGCATTTATTTGCTGCTTACTTCTTTTGTGCAATTCAATACCAATGGTATAAATATGATAGCTGATGCTTGTATATTTCTACTTTGGCATAATGACTTTGCTTGGAAAAAAAACTTGAAACTAACATACTGTAAGAATTTGTTCTGATAAATGGTGAGAAATTCTCACTGCTTTATGCTATAAATCAAGAGAAGTTGAAGATTCATGAATAAATCATAATTTATAATATAGTGAAGCATAATTATGTTTCAAAATGTGCATGGAAGAAACTAATGAAAACAACTCACACTTTTGTTCTTCAGATTATTTTACTTGAAATACTTTATAATTAGAATCCAGCTTGTGGAATCACTTAGTCATGAGTCTATTGATTTTAACAAACTAATTTATTAGATTAATTTGGCTTACTTAAAAAATAGCAATCTTTTCTGAAAATGTTTATTAAAATATATATAAAAGGTCTTTACTATAACTAAAAGTGCCCAAATATGTACCATGCTATAATAGTATTTACAATATATTTTCAGAAAAAATGACAATATTCAGATTAAATGCAGGAAAGAAAACATCACATTTTAACACTTAATATTTCCACTGATTCTTCATGCTCTGCAATTAGAAGATAATTTCACTTGTTTAGTTTTCTATCTATTCCAGCAGATTTGTGTTGAAATTTTTTTTCGCCATTAGAAACTGTGATTCTCTATGGGACCTTTTCAGTTTTGCATGCCGATTTTGAAACCAAATCTAAAGTTAAGGAAAAATAAAATAGGTCTCAGAAACATTATTTTATTATTCTTAACATTTCAACATCATGAATAACAACTAAATTTGAAAATTACCTGGATTCTGTCTTCCTCTAGATTCAATTTTTGAGCTAAGTCTTCTCTAATATCGATACCAGGATAGCAGTTTACTCTAAAGACATTTTCTAACACTTCAATCTAAGAAAAAAAAATGTTGATATTCAGTATGTCTCCAAAAATGAGCTTTAATTTCTAGAGTAAAATGACTACATTTAAATCTTGGCAATTAATCTGGATGCCTTTTTAAAAATGATTACCTGGAAATTGTTAAAATATGGTAGTCTACTGTTTCATTAATAAGGCTTCTAAACTGAGATACCAAAGTGAGTGGGCTTTTGCTCAACTTGGTGTCAATTAAAGCCTTTATATTATCATTATTGGGTGAAAAAACTTCCCACCTGGTTTTGAGTAAAAGCAGTTCTTGGTCTTCGGCCTCTATACCAACTCAACTCTCTTTTCAAAGACAGTCTTTCTGAGGCTGAAAAGTAATTTTCATATTTCGAAGCTCTTTCTTCTGGCATTGGGTGATCCACCACGCTAGGGAATGAAATCCCACTGGGAGGATTTGGGACATGTAGACATAAGTTACCATCTTTCCCTAAAAACAAAAAAATAAGCCCTGTCTTAGATGGTCAATCTTATGTTCCACAAAGTTCTATAGAGGTAGTTTCAGGAACTCATCTTTCATTTCCTAGTGGAATTCTGGGGTTCACAAGAGAATTGCACCCCGTTAACCAAAAACCAATAAAAAATGAAGATCCTGTCTTGGTAATCCTGCCTCTTTGGTCTCTGAATGTCGTTTATTTTTCAGTGAAAAGAGATTTCAAATATCTGATGTGTCAAACAGGGAGAGATCTTCTGAAGTAAATGCAGGTTCTTGGGATTTCCTGTGAGTGAATTTATCCACTTTGCTCAATCCAAAGCTGATATTCTTTTAATTTCCCATAGGACTCAGTTGGAGGCATTAAAAGTCCTAGACTCTGGCTGGGCGTGGTGGGTCATGCCTGTAATCCTAACACTTTGGGAGGCTGAGGCAGGCGGATCACCTGAGGTCAGGAGTTCGAGACTAGCCTGACCAACAGGGTGAAACCCCCCTCTACTAAAAAATACAAAAATTAGCAGGCCATGGTGGTGCATGCCTGTAATCCCAGCTACTTGGCAGGCTGAGGCAGGAGAATCGTTTGAACCCAGGAGGCGGAGGCTGCAGTGAGCCAAGATTATGCCATTGCACTCCAGTCTTGGCAACAAGACCAACACTCTGTCTCAGAAAAAAAAAAAAAATAATAAATAATAATAATAAATTAAATTAAAGTCCTAAACTCTAGCTCTATGTAGTATGAAATAAAGGGCAAATTAAACACTGTAAATGAAATAACAAAGAATTGAAACAATTAAGCTGTGGCATACCTGATGAGCTGCAGGTGTCTGCCCAGGGCCTGTGGGGTTTCATTAATGGAACACAGTCTTTCTTCTGGTCCAGTCCTAAGATTCTCTCAATTGAAAAGGAGCAAGTTGAGGGTTTGTTTTCCCCGAGCTGAGCGCCTTCCTGAAGGCTGGGAGACATCCTCTCGTGGTCTGCACAGAGCAACAGCTCTGGCCTCTGCTGGCTCTGCCCCACGTGTATAGGGCTGGGATCTTCCTGCAGTTCACCTTATAGCTCCGCTGACAAGGGGGCTGGATTTAGAACGTCACTAATTAAAATCCTGTCTTAGAAAGTTTTAGCATGTCAATGAACACTTGCCCAGCCAGCAGCTTAAGGAGTTAATTGTTTATTTGTTTGCAAGTAATTAGCAACTAATGGCTACACCAGGGGGGCCACCTACAGGGACAAAAAGTGTTATCTCTCCTAAGCAGAACACAGACTTAACTTTCTCTAAAGAAGTGATGCACAAATGTGGCACTTATCTTTTATTTGAAATCATTAATGTATAAAATCAAGCTTTTTATTCTGAAGTTTATACTTTCATGG
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Task1_train_7097
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This genomic variant is located on Chromosome 3, within the HESX1 (HESX homeobox 1) gene. Can you determine its pathogenicity and name any linked disease?
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Pathogenic; Septo-optic dysplasia sequence
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GCTTACCCATCATGTGACACATTCCCCTCCAACCCACTCCTCCAGAGCCTACTCCTGGTAACTTCCAGTCTTTCAATTTAACATAATTTCATAATAACCTAATGGAGAACAAAGAAAACTCTTTGTGGATAAATTTGAACTAATACATTTCATAAATAGTGCTTCCAATTTTTATATGAATGGAAGCAGCTCTTTATATTGGAAAAAGTGGCTCAGTCTTTTTTGGAAAACATGTAATGCCTATGTTCTTCCTAACTACCCTGTTGCCCTTCTTTTCCTCCTCCCTCTCCATCTCAGCAACAGTGGAATAGAATAAGCACGCTTATTGTTGACCAATTGTTGGGACACATAGCTCTCAACCTCAAATGTGCTCTCAGTAAATAATTTTAAAAAGCTCTAAAATCTGAGTCATGCTGCGTTTCCTTAGAAATAATATGCAAACTCCCTCTAGTCTTTTATATATAAAAAATAGTGATTATAGATTCAATAATTCAATGAGAACCTTCCACCTTGATCATCACTGGGACATCAGAAAGGACAGAGGACAGAAAGAAAAGAGAAGCAAGGGAGAATTCAATTCAAATGGACAAAGCTGAAATTTGGCTTCCAGTGGACAAAGTCAGAGTCTTAAGCTGACATTTCAAAAAAAAAAAAAAAAAAAAAAAACCACCCACTGAAGTCTTCCATTAACTGGAAAACAAATGCCCAGATTTCCAGCCGAGAGGGCTCCCTTCTTGTTATATATCTTATCCTATTCTCATCTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGCGATCTCGGCTCACGGCAAGCTCCGCCTCCCGGGTTCACGTCATTCTCCTTCCTCAGCCTCCGGAGTAGCTGCGACTACAGGCGCCCGCCACCGCGCCCAGCTAATTTTTTGTATTTTTTTAGTAGAGACGGGGTTTCACCGTGTTCTCGATCTCCTGACCTCGTGATACGCCCGCCTCGGCCTCCCAAAGTGTTGGGATTACAGGCGTGAGCCACCGCGCCCAGCCCCCCATCTTTAATTGGCAGGTAAAATGGGAAAATGGGAAATGAAAACACATAGTTTTTGTTACTTAGAAAGCACCTTGATTATTTCCAGTGACTATGTCAGAGCACTTACAAAAGGTGGGTCAGTTATCCTACCTTCTCAGTCAACTTAATATTGCAGTTGATTAGAAATCATTTAAACTGGAAATAGATATAAGCTACATGATCACTATCACTAATGAATGAAAGTAAAGTACAAAATTAAACTAGAAAACTATTTAAAATTTTGCATTTATTTGCTGCTTACTTCTTTTGTGCAATTCAATACCAATGGTATAAATATGATAGCTGATGCTTGTATATTTCTACTTTGGCATAATGACTTTGCTTGGAAAAAAAACTTGAAACTAACATACTGTAAGAATTTGTTCTGATAAATGGTGAGAAATTCTCACTGCTTTATGCTATAAATCAAGAGAAGTTGAAGATTCATGAATAAATCATAATTTATAATATAGTGAAGCATAATTATGTTTCAAAATGTGCATGGAAGAAACTAATGAAAACAACTCACACTTTTGTTCTTCAGATTATTTTACTTGAAATACTTTATAATTAGAATCCAGCTTGTGGAATCACTTAGTCATGAGTCTATTGATTTTAACAAACTAATTTATTAGATTAATTTGGCTTACTTAAAAAATAGCAATCTTTTCTGAAAATGTTTATTAAAATATATATAAAAGGTCTTTACTATAACTAAAAGTGCCCAAATATGTACCATGCTATAATAGTATTTACAATATATTTTCAGAAAAAATGACAATATTCAGATTAAATGCAGGAAAGAAAACATCACATTTTAACACTTAATATTTCCACTGATTCTTCATGCTCTGCAATTAGAAGATAATTTCACTTGTTTAGTTTTCTATCTATTCCAGCAGATTTGTGTTGAAATTTTTTTTCGCCATTAGAAACTGTGATTCTCTATGGGACCTTTTCAGTTTTGCACGCCGATTTTGAAACCAAATCTAAAGTTAAGGAAAAATAAAATAGGTCTCAGAAACATTATTTTATTATTCTTAACATTTCAACATCATGAATAACAACTAAATTTGAAAATTACCTGGATTCTGTCTTCCTCTAGATTCAATTTTTGAGCTAAGTCTTCTCTAATATCGATACCAGGATAGCAGTTTACTCTAAAGACATTTTCTAACACTTCAATCTAAGAAAAAAAAATGTTGATATTCAGTATGTCTCCAAAAATGAGCTTTAATTTCTAGAGTAAAATGACTACATTTAAATCTTGGCAATTAATCTGGATGCCTTTTTAAAAATGATTACCTGGAAATTGTTAAAATATGGTAGTCTACTGTTTCATTAATAAGGCTTCTAAACTGAGATACCAAAGTGAGTGGGCTTTTGCTCAACTTGGTGTCAATTAAAGCCTTTATATTATCATTATTGGGTGAAAAAACTTCCCACCTGGTTTTGAGTAAAAGCAGTTCTTGGTCTTCGGCCTCTATACCAACTCAACTCTCTTTTCAAAGACAGTCTTTCTGAGGCTGAAAAGTAATTTTCATATTTCGAAGCTCTTTCTTCTGGCATTGGGTGATCCACCACGCTAGGGAATGAAATCCCACTGGGAGGATTTGGGACATGTAGACATAAGTTACCATCTTTCCCTAAAAACAAAAAAATAAGCCCTGTCTTAGATGGTCAATCTTATGTTCCACAAAGTTCTATAGAGGTAGTTTCAGGAACTCATCTTTCATTTCCTAGTGGAATTCTGGGGTTCACAAGAGAATTGCACCCCGTTAACCAAAAACCAATAAAAAATGAAGATCCTGTCTTGGTAATCCTGCCTCTTTGGTCTCTGAATGTCGTTTATTTTTCAGTGAAAAGAGATTTCAAATATCTGATGTGTCAAACAGGGAGAGATCTTCTGAAGTAAATGCAGGTTCTTGGGATTTCCTGTGAGTGAATTTATCCACTTTGCTCAATCCAAAGCTGATATTCTTTTAATTTCCCATAGGACTCAGTTGGAGGCATTAAAAGTCCTAGACTCTGGCTGGGCGTGGTGGGTCATGCCTGTAATCCTAACACTTTGGGAGGCTGAGGCAGGCGGATCACCTGAGGTCAGGAGTTCGAGACTAGCCTGACCAACAGGGTGAAACCCCCCTCTACTAAAAAATACAAAAATTAGCAGGCCATGGTGGTGCATGCCTGTAATCCCAGCTACTTGGCAGGCTGAGGCAGGAGAATCGTTTGAACCCAGGAGGCGGAGGCTGCAGTGAGCCAAGATTATGCCATTGCACTCCAGTCTTGGCAACAAGACCAACACTCTGTCTCAGAAAAAAAAAAAAAATAATAAATAATAATAATAAATTAAATTAAAGTCCTAAACTCTAGCTCTATGTAGTATGAAATAAAGGGCAAATTAAACACTGTAAATGAAATAACAAAGAATTGAAACAATTAAGCTGTGGCATACCTGATGAGCTGCAGGTGTCTGCCCAGGGCCTGTGGGGTTTCATTAATGGAACACAGTCTTTCTTCTGGTCCAGTCCTAAGATTCTCTCAATTGAAAAGGAGCAAGTTGAGGGTTTGTTTTCCCCGAGCTGAGCGCCTTCCTGAAGGCTGGGAGACATCCTCTCGTGGTCTGCACAGAGCAACAGCTCTGGCCTCTGCTGGCTCTGCCCCACGTGTATAGGGCTGGGATCTTCCTGCAGTTCACCTTATAGCTCCGCTGACAAGGGGGCTGGATTTAGAACGTCACTAATTAAAATCCTGTCTTAGAAAGTTTTAGCATGTCAATGAACACTTGCCCAGCCAGCAGCTTAAGGAGTTAATTGTTTATTTGTTTGCAAGTAATTAGCAACTAATGGCTACACCAGGGGGGCCACCTACAGGGACAAAAAGTGTTATCTCTCCTAAGCAGAACACAGACTTAACTTTCTCTAAAGAAGTGATGCACAAATGTGGCACTTATCTTTTATTTGAAATCATTAATGTATAAAATCAAGCTTTTTATTCTGAAGTTTATACTTTCATGG
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GCTTACCCATCATGTGACACATTCCCCTCCAACCCACTCCTCCAGAGCCTACTCCTGGTAACTTCCAGTCTTTCAATTTAACATAATTTCATAATAACCTAATGGAGAACAAAGAAAACTCTTTGTGGATAAATTTGAACTAATACATTTCATAAATAGTGCTTCCAATTTTTATATGAATGGAAGCAGCTCTTTATATTGGAAAAAGTGGCTCAGTCTTTTTTGGAAAACATGTAATGCCTATGTTCTTCCTAACTACCCTGTTGCCCTTCTTTTCCTCCTCCCTCTCCATCTCAGCAACAGTGGAATAGAATAAGCACGCTTATTGTTGACCAATTGTTGGGACACATAGCTCTCAACCTCAAATGTGCTCTCAGTAAATAATTTTAAAAAGCTCTAAAATCTGAGTCATGCTGCGTTTCCTTAGAAATAATATGCAAACTCCCTCTAGTCTTTTATATATAAAAAATAGTGATTATAGATTCAATAATTCAATGAGAACCTTCCACCTTGATCATCACTGGGACATCAGAAAGGACAGAGGACAGAAAGAAAAGAGAAGCAAGGGAGAATTCAATTCAAATGGACAAAGCTGAAATTTGGCTTCCAGTGGACAAAGTCAGAGTCTTAAGCTGACATTTCAAAAAAAAAAAAAAAAAAAAAAAACCACCCACTGAAGTCTTCCATTAACTGGAAAACAAATGCCCAGATTTCCAGCCGAGAGGGCTCCCTTCTTGTTATATATCTTATCCTATTCTCATCTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGCGATCTCGGCTCACGGCAAGCTCCGCCTCCCGGGTTCACGTCATTCTCCTTCCTCAGCCTCCGGAGTAGCTGCGACTACAGGCGCCCGCCACCGCGCCCAGCTAATTTTTTGTATTTTTTTAGTAGAGACGGGGTTTCACCGTGTTCTCGATCTCCTGACCTCGTGATACGCCCGCCTCGGCCTCCCAAAGTGTTGGGATTACAGGCGTGAGCCACCGCGCCCAGCCCCCCATCTTTAATTGGCAGGTAAAATGGGAAAATGGGAAATGAAAACACATAGTTTTTGTTACTTAGAAAGCACCTTGATTATTTCCAGTGACTATGTCAGAGCACTTACAAAAGGTGGGTCAGTTATCCTACCTTCTCAGTCAACTTAATATTGCAGTTGATTAGAAATCATTTAAACTGGAAATAGATATAAGCTACATGATCACTATCACTAATGAATGAAAGTAAAGTACAAAATTAAACTAGAAAACTATTTAAAATTTTGCATTTATTTGCTGCTTACTTCTTTTGTGCAATTCAATACCAATGGTATAAATATGATAGCTGATGCTTGTATATTTCTACTTTGGCATAATGACTTTGCTTGGAAAAAAAACTTGAAACTAACATACTGTAAGAATTTGTTCTGATAAATGGTGAGAAATTCTCACTGCTTTATGCTATAAATCAAGAGAAGTTGAAGATTCATGAATAAATCATAATTTATAATATAGTGAAGCATAATTATGTTTCAAAATGTGCATGGAAGAAACTAATGAAAACAACTCACACTTTTGTTCTTCAGATTATTTTACTTGAAATACTTTATAATTAGAATCCAGCTTGTGGAATCACTTAGTCATGAGTCTATTGATTTTAACAAACTAATTTATTAGATTAATTTGGCTTACTTAAAAAATAGCAATCTTTTCTGAAAATGTTTATTAAAATATATATAAAAGGTCTTTACTATAACTAAAAGTGCCCAAATATGTACCATGCTATAATAGTATTTACAATATATTTTCAGAAAAAATGACAATATTCAGATTAAATGCAGGAAAGAAAACATCACATTTTAACACTTAATATTTCCACTGATTCTTCATGCTCTGCAATTAGAAGATAATTTCACTTGTTTAGTTTTCTATCTATTCCAGCAGATTTGTGTTGAAATTTTTTTTCGCCATTAGAAACTGTGATTCTCTATGGGACCTTTTCAGTTTTGCATGCCGATTTTGAAACCAAATCTAAAGTTAAGGAAAAATAAAATAGGTCTCAGAAACATTATTTTATTATTCTTAACATTTCAACATCATGAATAACAACTAAATTTGAAAATTACCTGGATTCTGTCTTCCTCTAGATTCAATTTTTGAGCTAAGTCTTCTCTAATATCGATACCAGGATAGCAGTTTACTCTAAAGACATTTTCTAACACTTCAATCTAAGAAAAAAAAATGTTGATATTCAGTATGTCTCCAAAAATGAGCTTTAATTTCTAGAGTAAAATGACTACATTTAAATCTTGGCAATTAATCTGGATGCCTTTTTAAAAATGATTACCTGGAAATTGTTAAAATATGGTAGTCTACTGTTTCATTAATAAGGCTTCTAAACTGAGATACCAAAGTGAGTGGGCTTTTGCTCAACTTGGTGTCAATTAAAGCCTTTATATTATCATTATTGGGTGAAAAAACTTCCCACCTGGTTTTGAGTAAAAGCAGTTCTTGGTCTTCGGCCTCTATACCAACTCAACTCTCTTTTCAAAGACAGTCTTTCTGAGGCTGAAAAGTAATTTTCATATTTCGAAGCTCTTTCTTCTGGCATTGGGTGATCCACCACGCTAGGGAATGAAATCCCACTGGGAGGATTTGGGACATGTAGACATAAGTTACCATCTTTCCCTAAAAACAAAAAAATAAGCCCTGTCTTAGATGGTCAATCTTATGTTCCACAAAGTTCTATAGAGGTAGTTTCAGGAACTCATCTTTCATTTCCTAGTGGAATTCTGGGGTTCACAAGAGAATTGCACCCCGTTAACCAAAAACCAATAAAAAATGAAGATCCTGTCTTGGTAATCCTGCCTCTTTGGTCTCTGAATGTCGTTTATTTTTCAGTGAAAAGAGATTTCAAATATCTGATGTGTCAAACAGGGAGAGATCTTCTGAAGTAAATGCAGGTTCTTGGGATTTCCTGTGAGTGAATTTATCCACTTTGCTCAATCCAAAGCTGATATTCTTTTAATTTCCCATAGGACTCAGTTGGAGGCATTAAAAGTCCTAGACTCTGGCTGGGCGTGGTGGGTCATGCCTGTAATCCTAACACTTTGGGAGGCTGAGGCAGGCGGATCACCTGAGGTCAGGAGTTCGAGACTAGCCTGACCAACAGGGTGAAACCCCCCTCTACTAAAAAATACAAAAATTAGCAGGCCATGGTGGTGCATGCCTGTAATCCCAGCTACTTGGCAGGCTGAGGCAGGAGAATCGTTTGAACCCAGGAGGCGGAGGCTGCAGTGAGCCAAGATTATGCCATTGCACTCCAGTCTTGGCAACAAGACCAACACTCTGTCTCAGAAAAAAAAAAAAAATAATAAATAATAATAATAAATTAAATTAAAGTCCTAAACTCTAGCTCTATGTAGTATGAAATAAAGGGCAAATTAAACACTGTAAATGAAATAACAAAGAATTGAAACAATTAAGCTGTGGCATACCTGATGAGCTGCAGGTGTCTGCCCAGGGCCTGTGGGGTTTCATTAATGGAACACAGTCTTTCTTCTGGTCCAGTCCTAAGATTCTCTCAATTGAAAAGGAGCAAGTTGAGGGTTTGTTTTCCCCGAGCTGAGCGCCTTCCTGAAGGCTGGGAGACATCCTCTCGTGGTCTGCACAGAGCAACAGCTCTGGCCTCTGCTGGCTCTGCCCCACGTGTATAGGGCTGGGATCTTCCTGCAGTTCACCTTATAGCTCCGCTGACAAGGGGGCTGGATTTAGAACGTCACTAATTAAAATCCTGTCTTAGAAAGTTTTAGCATGTCAATGAACACTTGCCCAGCCAGCAGCTTAAGGAGTTAATTGTTTATTTGTTTGCAAGTAATTAGCAACTAATGGCTACACCAGGGGGGCCACCTACAGGGACAAAAAGTGTTATCTCTCCTAAGCAGAACACAGACTTAACTTTCTCTAAAGAAGTGATGCACAAATGTGGCACTTATCTTTTATTTGAAATCATTAATGTATAAAATCAAGCTTTTTATTCTGAAGTTTATACTTTCATGG
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Task1_train_7098
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The gene HESX1 (HESX homeobox 1) is located on Chromosome 3, where a mutation has occurred. What is the medical relevance of this mutation?
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Pathogenic; Inborn genetic diseases
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GCTTACCCATCATGTGACACATTCCCCTCCAACCCACTCCTCCAGAGCCTACTCCTGGTAACTTCCAGTCTTTCAATTTAACATAATTTCATAATAACCTAATGGAGAACAAAGAAAACTCTTTGTGGATAAATTTGAACTAATACATTTCATAAATAGTGCTTCCAATTTTTATATGAATGGAAGCAGCTCTTTATATTGGAAAAAGTGGCTCAGTCTTTTTTGGAAAACATGTAATGCCTATGTTCTTCCTAACTACCCTGTTGCCCTTCTTTTCCTCCTCCCTCTCCATCTCAGCAACAGTGGAATAGAATAAGCACGCTTATTGTTGACCAATTGTTGGGACACATAGCTCTCAACCTCAAATGTGCTCTCAGTAAATAATTTTAAAAAGCTCTAAAATCTGAGTCATGCTGCGTTTCCTTAGAAATAATATGCAAACTCCCTCTAGTCTTTTATATATAAAAAATAGTGATTATAGATTCAATAATTCAATGAGAACCTTCCACCTTGATCATCACTGGGACATCAGAAAGGACAGAGGACAGAAAGAAAAGAGAAGCAAGGGAGAATTCAATTCAAATGGACAAAGCTGAAATTTGGCTTCCAGTGGACAAAGTCAGAGTCTTAAGCTGACATTTCAAAAAAAAAAAAAAAAAAAAAAAACCACCCACTGAAGTCTTCCATTAACTGGAAAACAAATGCCCAGATTTCCAGCCGAGAGGGCTCCCTTCTTGTTATATATCTTATCCTATTCTCATCTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGCGATCTCGGCTCACGGCAAGCTCCGCCTCCCGGGTTCACGTCATTCTCCTTCCTCAGCCTCCGGAGTAGCTGCGACTACAGGCGCCCGCCACCGCGCCCAGCTAATTTTTTGTATTTTTTTAGTAGAGACGGGGTTTCACCGTGTTCTCGATCTCCTGACCTCGTGATACGCCCGCCTCGGCCTCCCAAAGTGTTGGGATTACAGGCGTGAGCCACCGCGCCCAGCCCCCCATCTTTAATTGGCAGGTAAAATGGGAAAATGGGAAATGAAAACACATAGTTTTTGTTACTTAGAAAGCACCTTGATTATTTCCAGTGACTATGTCAGAGCACTTACAAAAGGTGGGTCAGTTATCCTACCTTCTCAGTCAACTTAATATTGCAGTTGATTAGAAATCATTTAAACTGGAAATAGATATAAGCTACATGATCACTATCACTAATGAATGAAAGTAAAGTACAAAATTAAACTAGAAAACTATTTAAAATTTTGCATTTATTTGCTGCTTACTTCTTTTGTGCAATTCAATACCAATGGTATAAATATGATAGCTGATGCTTGTATATTTCTACTTTGGCATAATGACTTTGCTTGGAAAAAAAACTTGAAACTAACATACTGTAAGAATTTGTTCTGATAAATGGTGAGAAATTCTCACTGCTTTATGCTATAAATCAAGAGAAGTTGAAGATTCATGAATAAATCATAATTTATAATATAGTGAAGCATAATTATGTTTCAAAATGTGCATGGAAGAAACTAATGAAAACAACTCACACTTTTGTTCTTCAGATTATTTTACTTGAAATACTTTATAATTAGAATCCAGCTTGTGGAATCACTTAGTCATGAGTCTATTGATTTTAACAAACTAATTTATTAGATTAATTTGGCTTACTTAAAAAATAGCAATCTTTTCTGAAAATGTTTATTAAAATATATATAAAAGGTCTTTACTATAACTAAAAGTGCCCAAATATGTACCATGCTATAATAGTATTTACAATATATTTTCAGAAAAAATGACAATATTCAGATTAAATGCAGGAAAGAAAACATCACATTTTAACACTTAATATTTCCACTGATTCTTCATGCTCTGCAATTAGAAGATAATTTCACTTGTTTAGTTTTCTATCTATTCCAGCAGATTTGTGTTGAAATTTTTTTTCGCCATTAGAAACTGTGATTCTCTATGGGACCTTTTCAGTTTTGCACGCCGATTTTGAAACCAAATCTAAAGTTAAGGAAAAATAAAATAGGTCTCAGAAACATTATTTTATTATTCTTAACATTTCAACATCATGAATAACAACTAAATTTGAAAATTACCTGGATTCTGTCTTCCTCTAGATTCAATTTTTGAGCTAAGTCTTCTCTAATATCGATACCAGGATAGCAGTTTACTCTAAAGACATTTTCTAACACTTCAATCTAAGAAAAAAAAATGTTGATATTCAGTATGTCTCCAAAAATGAGCTTTAATTTCTAGAGTAAAATGACTACATTTAAATCTTGGCAATTAATCTGGATGCCTTTTTAAAAATGATTACCTGGAAATTGTTAAAATATGGTAGTCTACTGTTTCATTAATAAGGCTTCTAAACTGAGATACCAAAGTGAGTGGGCTTTTGCTCAACTTGGTGTCAATTAAAGCCTTTATATTATCATTATTGGGTGAAAAAACTTCCCACCTGGTTTTGAGTAAAAGCAGTTCTTGGTCTTCGGCCTCTATACCAACTCAACTCTCTTTTCAAAGACAGTCTTTCTGAGGCTGAAAAGTAATTTTCATATTTCGAAGCTCTTTCTTCTGGCATTGGGTGATCCACCACGCTAGGGAATGAAATCCCACTGGGAGGATTTGGGACATGTAGACATAAGTTACCATCTTTCCCTAAAAACAAAAAAATAAGCCCTGTCTTAGATGGTCAATCTTATGTTCCACAAAGTTCTATAGAGGTAGTTTCAGGAACTCATCTTTCATTTCCTAGTGGAATTCTGGGGTTCACAAGAGAATTGCACCCCGTTAACCAAAAACCAATAAAAAATGAAGATCCTGTCTTGGTAATCCTGCCTCTTTGGTCTCTGAATGTCGTTTATTTTTCAGTGAAAAGAGATTTCAAATATCTGATGTGTCAAACAGGGAGAGATCTTCTGAAGTAAATGCAGGTTCTTGGGATTTCCTGTGAGTGAATTTATCCACTTTGCTCAATCCAAAGCTGATATTCTTTTAATTTCCCATAGGACTCAGTTGGAGGCATTAAAAGTCCTAGACTCTGGCTGGGCGTGGTGGGTCATGCCTGTAATCCTAACACTTTGGGAGGCTGAGGCAGGCGGATCACCTGAGGTCAGGAGTTCGAGACTAGCCTGACCAACAGGGTGAAACCCCCCTCTACTAAAAAATACAAAAATTAGCAGGCCATGGTGGTGCATGCCTGTAATCCCAGCTACTTGGCAGGCTGAGGCAGGAGAATCGTTTGAACCCAGGAGGCGGAGGCTGCAGTGAGCCAAGATTATGCCATTGCACTCCAGTCTTGGCAACAAGACCAACACTCTGTCTCAGAAAAAAAAAAAAAATAATAAATAATAATAATAAATTAAATTAAAGTCCTAAACTCTAGCTCTATGTAGTATGAAATAAAGGGCAAATTAAACACTGTAAATGAAATAACAAAGAATTGAAACAATTAAGCTGTGGCATACCTGATGAGCTGCAGGTGTCTGCCCAGGGCCTGTGGGGTTTCATTAATGGAACACAGTCTTTCTTCTGGTCCAGTCCTAAGATTCTCTCAATTGAAAAGGAGCAAGTTGAGGGTTTGTTTTCCCCGAGCTGAGCGCCTTCCTGAAGGCTGGGAGACATCCTCTCGTGGTCTGCACAGAGCAACAGCTCTGGCCTCTGCTGGCTCTGCCCCACGTGTATAGGGCTGGGATCTTCCTGCAGTTCACCTTATAGCTCCGCTGACAAGGGGGCTGGATTTAGAACGTCACTAATTAAAATCCTGTCTTAGAAAGTTTTAGCATGTCAATGAACACTTGCCCAGCCAGCAGCTTAAGGAGTTAATTGTTTATTTGTTTGCAAGTAATTAGCAACTAATGGCTACACCAGGGGGGCCACCTACAGGGACAAAAAGTGTTATCTCTCCTAAGCAGAACACAGACTTAACTTTCTCTAAAGAAGTGATGCACAAATGTGGCACTTATCTTTTATTTGAAATCATTAATGTATAAAATCAAGCTTTTTATTCTGAAGTTTATACTTTCATGG
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GCTTACCCATCATGTGACACATTCCCCTCCAACCCACTCCTCCAGAGCCTACTCCTGGTAACTTCCAGTCTTTCAATTTAACATAATTTCATAATAACCTAATGGAGAACAAAGAAAACTCTTTGTGGATAAATTTGAACTAATACATTTCATAAATAGTGCTTCCAATTTTTATATGAATGGAAGCAGCTCTTTATATTGGAAAAAGTGGCTCAGTCTTTTTTGGAAAACATGTAATGCCTATGTTCTTCCTAACTACCCTGTTGCCCTTCTTTTCCTCCTCCCTCTCCATCTCAGCAACAGTGGAATAGAATAAGCACGCTTATTGTTGACCAATTGTTGGGACACATAGCTCTCAACCTCAAATGTGCTCTCAGTAAATAATTTTAAAAAGCTCTAAAATCTGAGTCATGCTGCGTTTCCTTAGAAATAATATGCAAACTCCCTCTAGTCTTTTATATATAAAAAATAGTGATTATAGATTCAATAATTCAATGAGAACCTTCCACCTTGATCATCACTGGGACATCAGAAAGGACAGAGGACAGAAAGAAAAGAGAAGCAAGGGAGAATTCAATTCAAATGGACAAAGCTGAAATTTGGCTTCCAGTGGACAAAGTCAGAGTCTTAAGCTGACATTTCAAAAAAAAAAAAAAAAAAAAAAAACCACCCACTGAAGTCTTCCATTAACTGGAAAACAAATGCCCAGATTTCCAGCCGAGAGGGCTCCCTTCTTGTTATATATCTTATCCTATTCTCATCTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGCGATCTCGGCTCACGGCAAGCTCCGCCTCCCGGGTTCACGTCATTCTCCTTCCTCAGCCTCCGGAGTAGCTGCGACTACAGGCGCCCGCCACCGCGCCCAGCTAATTTTTTGTATTTTTTTAGTAGAGACGGGGTTTCACCGTGTTCTCGATCTCCTGACCTCGTGATACGCCCGCCTCGGCCTCCCAAAGTGTTGGGATTACAGGCGTGAGCCACCGCGCCCAGCCCCCCATCTTTAATTGGCAGGTAAAATGGGAAAATGGGAAATGAAAACACATAGTTTTTGTTACTTAGAAAGCACCTTGATTATTTCCAGTGACTATGTCAGAGCACTTACAAAAGGTGGGTCAGTTATCCTACCTTCTCAGTCAACTTAATATTGCAGTTGATTAGAAATCATTTAAACTGGAAATAGATATAAGCTACATGATCACTATCACTAATGAATGAAAGTAAAGTACAAAATTAAACTAGAAAACTATTTAAAATTTTGCATTTATTTGCTGCTTACTTCTTTTGTGCAATTCAATACCAATGGTATAAATATGATAGCTGATGCTTGTATATTTCTACTTTGGCATAATGACTTTGCTTGGAAAAAAAACTTGAAACTAACATACTGTAAGAATTTGTTCTGATAAATGGTGAGAAATTCTCACTGCTTTATGCTATAAATCAAGAGAAGTTGAAGATTCATGAATAAATCATAATTTATAATATAGTGAAGCATAATTATGTTTCAAAATGTGCATGGAAGAAACTAATGAAAACAACTCACACTTTTGTTCTTCAGATTATTTTACTTGAAATACTTTATAATTAGAATCCAGCTTGTGGAATCACTTAGTCATGAGTCTATTGATTTTAACAAACTAATTTATTAGATTAATTTGGCTTACTTAAAAAATAGCAATCTTTTCTGAAAATGTTTATTAAAATATATATAAAAGGTCTTTACTATAACTAAAAGTGCCCAAATATGTACCATGCTATAATAGTATTTACAATATATTTTCAGAAAAAATGACAATATTCAGATTAAATGCAGGAAAGAAAACATCACATTTTAACACTTAATATTTCCACTGATTCTTCATGCTCTGCAATTAGAAGATAATTTCACTTGTTTAGTTTTCTATCTATTCCAGCAGATTTGTGTTGAAATTTTTTTTCGCCATTAGAAACTGTGATTCTCTATGGGACCTTTTCAGTTTTGCATGCCGATTTTGAAACCAAATCTAAAGTTAAGGAAAAATAAAATAGGTCTCAGAAACATTATTTTATTATTCTTAACATTTCAACATCATGAATAACAACTAAATTTGAAAATTACCTGGATTCTGTCTTCCTCTAGATTCAATTTTTGAGCTAAGTCTTCTCTAATATCGATACCAGGATAGCAGTTTACTCTAAAGACATTTTCTAACACTTCAATCTAAGAAAAAAAAATGTTGATATTCAGTATGTCTCCAAAAATGAGCTTTAATTTCTAGAGTAAAATGACTACATTTAAATCTTGGCAATTAATCTGGATGCCTTTTTAAAAATGATTACCTGGAAATTGTTAAAATATGGTAGTCTACTGTTTCATTAATAAGGCTTCTAAACTGAGATACCAAAGTGAGTGGGCTTTTGCTCAACTTGGTGTCAATTAAAGCCTTTATATTATCATTATTGGGTGAAAAAACTTCCCACCTGGTTTTGAGTAAAAGCAGTTCTTGGTCTTCGGCCTCTATACCAACTCAACTCTCTTTTCAAAGACAGTCTTTCTGAGGCTGAAAAGTAATTTTCATATTTCGAAGCTCTTTCTTCTGGCATTGGGTGATCCACCACGCTAGGGAATGAAATCCCACTGGGAGGATTTGGGACATGTAGACATAAGTTACCATCTTTCCCTAAAAACAAAAAAATAAGCCCTGTCTTAGATGGTCAATCTTATGTTCCACAAAGTTCTATAGAGGTAGTTTCAGGAACTCATCTTTCATTTCCTAGTGGAATTCTGGGGTTCACAAGAGAATTGCACCCCGTTAACCAAAAACCAATAAAAAATGAAGATCCTGTCTTGGTAATCCTGCCTCTTTGGTCTCTGAATGTCGTTTATTTTTCAGTGAAAAGAGATTTCAAATATCTGATGTGTCAAACAGGGAGAGATCTTCTGAAGTAAATGCAGGTTCTTGGGATTTCCTGTGAGTGAATTTATCCACTTTGCTCAATCCAAAGCTGATATTCTTTTAATTTCCCATAGGACTCAGTTGGAGGCATTAAAAGTCCTAGACTCTGGCTGGGCGTGGTGGGTCATGCCTGTAATCCTAACACTTTGGGAGGCTGAGGCAGGCGGATCACCTGAGGTCAGGAGTTCGAGACTAGCCTGACCAACAGGGTGAAACCCCCCTCTACTAAAAAATACAAAAATTAGCAGGCCATGGTGGTGCATGCCTGTAATCCCAGCTACTTGGCAGGCTGAGGCAGGAGAATCGTTTGAACCCAGGAGGCGGAGGCTGCAGTGAGCCAAGATTATGCCATTGCACTCCAGTCTTGGCAACAAGACCAACACTCTGTCTCAGAAAAAAAAAAAAAATAATAAATAATAATAATAAATTAAATTAAAGTCCTAAACTCTAGCTCTATGTAGTATGAAATAAAGGGCAAATTAAACACTGTAAATGAAATAACAAAGAATTGAAACAATTAAGCTGTGGCATACCTGATGAGCTGCAGGTGTCTGCCCAGGGCCTGTGGGGTTTCATTAATGGAACACAGTCTTTCTTCTGGTCCAGTCCTAAGATTCTCTCAATTGAAAAGGAGCAAGTTGAGGGTTTGTTTTCCCCGAGCTGAGCGCCTTCCTGAAGGCTGGGAGACATCCTCTCGTGGTCTGCACAGAGCAACAGCTCTGGCCTCTGCTGGCTCTGCCCCACGTGTATAGGGCTGGGATCTTCCTGCAGTTCACCTTATAGCTCCGCTGACAAGGGGGCTGGATTTAGAACGTCACTAATTAAAATCCTGTCTTAGAAAGTTTTAGCATGTCAATGAACACTTGCCCAGCCAGCAGCTTAAGGAGTTAATTGTTTATTTGTTTGCAAGTAATTAGCAACTAATGGCTACACCAGGGGGGCCACCTACAGGGACAAAAAGTGTTATCTCTCCTAAGCAGAACACAGACTTAACTTTCTCTAAAGAAGTGATGCACAAATGTGGCACTTATCTTTTATTTGAAATCATTAATGTATAAAATCAAGCTTTTTATTCTGAAGTTTATACTTTCATGG
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Task1_train_7099
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This is a variant in HESX1 (HESX homeobox 1), located on Chromosome 3. Is this mutation a likely cause of disease or not?
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Pathogenic; GROWTH HORMONE DEFICIENCY WITH PITUITARY ANOMALIES
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CTTACCCATCATGTGACACATTCCCCTCCAACCCACTCCTCCAGAGCCTACTCCTGGTAACTTCCAGTCTTTCAATTTAACATAATTTCATAATAACCTAATGGAGAACAAAGAAAACTCTTTGTGGATAAATTTGAACTAATACATTTCATAAATAGTGCTTCCAATTTTTATATGAATGGAAGCAGCTCTTTATATTGGAAAAAGTGGCTCAGTCTTTTTTGGAAAACATGTAATGCCTATGTTCTTCCTAACTACCCTGTTGCCCTTCTTTTCCTCCTCCCTCTCCATCTCAGCAACAGTGGAATAGAATAAGCACGCTTATTGTTGACCAATTGTTGGGACACATAGCTCTCAACCTCAAATGTGCTCTCAGTAAATAATTTTAAAAAGCTCTAAAATCTGAGTCATGCTGCGTTTCCTTAGAAATAATATGCAAACTCCCTCTAGTCTTTTATATATAAAAAATAGTGATTATAGATTCAATAATTCAATGAGAACCTTCCACCTTGATCATCACTGGGACATCAGAAAGGACAGAGGACAGAAAGAAAAGAGAAGCAAGGGAGAATTCAATTCAAATGGACAAAGCTGAAATTTGGCTTCCAGTGGACAAAGTCAGAGTCTTAAGCTGACATTTCAAAAAAAAAAAAAAAAAAAAAAAACCACCCACTGAAGTCTTCCATTAACTGGAAAACAAATGCCCAGATTTCCAGCCGAGAGGGCTCCCTTCTTGTTATATATCTTATCCTATTCTCATCTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGCGATCTCGGCTCACGGCAAGCTCCGCCTCCCGGGTTCACGTCATTCTCCTTCCTCAGCCTCCGGAGTAGCTGCGACTACAGGCGCCCGCCACCGCGCCCAGCTAATTTTTTGTATTTTTTTAGTAGAGACGGGGTTTCACCGTGTTCTCGATCTCCTGACCTCGTGATACGCCCGCCTCGGCCTCCCAAAGTGTTGGGATTACAGGCGTGAGCCACCGCGCCCAGCCCCCCATCTTTAATTGGCAGGTAAAATGGGAAAATGGGAAATGAAAACACATAGTTTTTGTTACTTAGAAAGCACCTTGATTATTTCCAGTGACTATGTCAGAGCACTTACAAAAGGTGGGTCAGTTATCCTACCTTCTCAGTCAACTTAATATTGCAGTTGATTAGAAATCATTTAAACTGGAAATAGATATAAGCTACATGATCACTATCACTAATGAATGAAAGTAAAGTACAAAATTAAACTAGAAAACTATTTAAAATTTTGCATTTATTTGCTGCTTACTTCTTTTGTGCAATTCAATACCAATGGTATAAATATGATAGCTGATGCTTGTATATTTCTACTTTGGCATAATGACTTTGCTTGGAAAAAAAACTTGAAACTAACATACTGTAAGAATTTGTTCTGATAAATGGTGAGAAATTCTCACTGCTTTATGCTATAAATCAAGAGAAGTTGAAGATTCATGAATAAATCATAATTTATAATATAGTGAAGCATAATTATGTTTCAAAATGTGCATGGAAGAAACTAATGAAAACAACTCACACTTTTGTTCTTCAGATTATTTTACTTGAAATACTTTATAATTAGAATCCAGCTTGTGGAATCACTTAGTCATGAGTCTATTGATTTTAACAAACTAATTTATTAGATTAATTTGGCTTACTTAAAAAATAGCAATCTTTTCTGAAAATGTTTATTAAAATATATATAAAAGGTCTTTACTATAACTAAAAGTGCCCAAATATGTACCATGCTATAATAGTATTTACAATATATTTTCAGAAAAAATGACAATATTCAGATTAAATGCAGGAAAGAAAACATCACATTTTAACACTTAATATTTCCACTGATTCTTCATGCTCTGCAATTAGAAGATAATTTCACTTGTTTAGTTTTCTATCTATTCCAGCAGATTTGTGTTGAAATTTTTTTTCGCCATTAGAAACTGTGATTCTCTATGGGACCTTTTCAGTTTTGCACGCCGATTTTGAAACCAAATCTAAAGTTAAGGAAAAATAAAATAGGTCTCAGAAACATTATTTTATTATTCTTAACATTTCAACATCATGAATAACAACTAAATTTGAAAATTACCTGGATTCTGTCTTCCTCTAGATTCAATTTTTGAGCTAAGTCTTCTCTAATATCGATACCAGGATAGCAGTTTACTCTAAAGACATTTTCTAACACTTCAATCTAAGAAAAAAAAATGTTGATATTCAGTATGTCTCCAAAAATGAGCTTTAATTTCTAGAGTAAAATGACTACATTTAAATCTTGGCAATTAATCTGGATGCCTTTTTAAAAATGATTACCTGGAAATTGTTAAAATATGGTAGTCTACTGTTTCATTAATAAGGCTTCTAAACTGAGATACCAAAGTGAGTGGGCTTTTGCTCAACTTGGTGTCAATTAAAGCCTTTATATTATCATTATTGGGTGAAAAAACTTCCCACCTGGTTTTGAGTAAAAGCAGTTCTTGGTCTTCGGCCTCTATACCAACTCAACTCTCTTTTCAAAGACAGTCTTTCTGAGGCTGAAAAGTAATTTTCATATTTCGAAGCTCTTTCTTCTGGCATTGGGTGATCCACCACGCTAGGGAATGAAATCCCACTGGGAGGATTTGGGACATGTAGACATAAGTTACCATCTTTCCCTAAAAACAAAAAAATAAGCCCTGTCTTAGATGGTCAATCTTATGTTCCACAAAGTTCTATAGAGGTAGTTTCAGGAACTCATCTTTCATTTCCTAGTGGAATTCTGGGGTTCACAAGAGAATTGCACCCCGTTAACCAAAAACCAATAAAAAATGAAGATCCTGTCTTGGTAATCCTGCCTCTTTGGTCTCTGAATGTCGTTTATTTTTCAGTGAAAAGAGATTTCAAATATCTGATGTGTCAAACAGGGAGAGATCTTCTGAAGTAAATGCAGGTTCTTGGGATTTCCTGTGAGTGAATTTATCCACTTTGCTCAATCCAAAGCTGATATTCTTTTAATTTCCCATAGGACTCAGTTGGAGGCATTAAAAGTCCTAGACTCTGGCTGGGCGTGGTGGGTCATGCCTGTAATCCTAACACTTTGGGAGGCTGAGGCAGGCGGATCACCTGAGGTCAGGAGTTCGAGACTAGCCTGACCAACAGGGTGAAACCCCCCTCTACTAAAAAATACAAAAATTAGCAGGCCATGGTGGTGCATGCCTGTAATCCCAGCTACTTGGCAGGCTGAGGCAGGAGAATCGTTTGAACCCAGGAGGCGGAGGCTGCAGTGAGCCAAGATTATGCCATTGCACTCCAGTCTTGGCAACAAGACCAACACTCTGTCTCAGAAAAAAAAAAAAAATAATAAATAATAATAATAAATTAAATTAAAGTCCTAAACTCTAGCTCTATGTAGTATGAAATAAAGGGCAAATTAAACACTGTAAATGAAATAACAAAGAATTGAAACAATTAAGCTGTGGCATACCTGATGAGCTGCAGGTGTCTGCCCAGGGCCTGTGGGGTTTCATTAATGGAACACAGTCTTTCTTCTGGTCCAGTCCTAAGATTCTCTCAATTGAAAAGGAGCAAGTTGAGGGTTTGTTTTCCCCGAGCTGAGCGCCTTCCTGAAGGCTGGGAGACATCCTCTCGTGGTCTGCACAGAGCAACAGCTCTGGCCTCTGCTGGCTCTGCCCCACGTGTATAGGGCTGGGATCTTCCTGCAGTTCACCTTATAGCTCCGCTGACAAGGGGGCTGGATTTAGAACGTCACTAATTAAAATCCTGTCTTAGAAAGTTTTAGCATGTCAATGAACACTTGCCCAGCCAGCAGCTTAAGGAGTTAATTGTTTATTTGTTTGCAAGTAATTAGCAACTAATGGCTACACCAGGGGGGCCACCTACAGGGACAAAAAGTGTTATCTCTCCTAAGCAGAACACAGACTTAACTTTCTCTAAAGAAGTGATGCACAAATGTGGCACTTATCTTTTATTTGAAATCATTAATGTATAAAATCAAGCTTTTTATTCTGAAGTTTATACTTTCATGGG
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CTTACCCATCATGTGACACATTCCCCTCCAACCCACTCCTCCAGAGCCTACTCCTGGTAACTTCCAGTCTTTCAATTTAACATAATTTCATAATAACCTAATGGAGAACAAAGAAAACTCTTTGTGGATAAATTTGAACTAATACATTTCATAAATAGTGCTTCCAATTTTTATATGAATGGAAGCAGCTCTTTATATTGGAAAAAGTGGCTCAGTCTTTTTTGGAAAACATGTAATGCCTATGTTCTTCCTAACTACCCTGTTGCCCTTCTTTTCCTCCTCCCTCTCCATCTCAGCAACAGTGGAATAGAATAAGCACGCTTATTGTTGACCAATTGTTGGGACACATAGCTCTCAACCTCAAATGTGCTCTCAGTAAATAATTTTAAAAAGCTCTAAAATCTGAGTCATGCTGCGTTTCCTTAGAAATAATATGCAAACTCCCTCTAGTCTTTTATATATAAAAAATAGTGATTATAGATTCAATAATTCAATGAGAACCTTCCACCTTGATCATCACTGGGACATCAGAAAGGACAGAGGACAGAAAGAAAAGAGAAGCAAGGGAGAATTCAATTCAAATGGACAAAGCTGAAATTTGGCTTCCAGTGGACAAAGTCAGAGTCTTAAGCTGACATTTCAAAAAAAAAAAAAAAAAAAAAAAACCACCCACTGAAGTCTTCCATTAACTGGAAAACAAATGCCCAGATTTCCAGCCGAGAGGGCTCCCTTCTTGTTATATATCTTATCCTATTCTCATCTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGCGATCTCGGCTCACGGCAAGCTCCGCCTCCCGGGTTCACGTCATTCTCCTTCCTCAGCCTCCGGAGTAGCTGCGACTACAGGCGCCCGCCACCGCGCCCAGCTAATTTTTTGTATTTTTTTAGTAGAGACGGGGTTTCACCGTGTTCTCGATCTCCTGACCTCGTGATACGCCCGCCTCGGCCTCCCAAAGTGTTGGGATTACAGGCGTGAGCCACCGCGCCCAGCCCCCCATCTTTAATTGGCAGGTAAAATGGGAAAATGGGAAATGAAAACACATAGTTTTTGTTACTTAGAAAGCACCTTGATTATTTCCAGTGACTATGTCAGAGCACTTACAAAAGGTGGGTCAGTTATCCTACCTTCTCAGTCAACTTAATATTGCAGTTGATTAGAAATCATTTAAACTGGAAATAGATATAAGCTACATGATCACTATCACTAATGAATGAAAGTAAAGTACAAAATTAAACTAGAAAACTATTTAAAATTTTGCATTTATTTGCTGCTTACTTCTTTTGTGCAATTCAATACCAATGGTATAAATATGATAGCTGATGCTTGTATATTTCTACTTTGGCATAATGACTTTGCTTGGAAAAAAAACTTGAAACTAACATACTGTAAGAATTTGTTCTGATAAATGGTGAGAAATTCTCACTGCTTTATGCTATAAATCAAGAGAAGTTGAAGATTCATGAATAAATCATAATTTATAATATAGTGAAGCATAATTATGTTTCAAAATGTGCATGGAAGAAACTAATGAAAACAACTCACACTTTTGTTCTTCAGATTATTTTACTTGAAATACTTTATAATTAGAATCCAGCTTGTGGAATCACTTAGTCATGAGTCTATTGATTTTAACAAACTAATTTATTAGATTAATTTGGCTTACTTAAAAAATAGCAATCTTTTCTGAAAATGTTTATTAAAATATATATAAAAGGTCTTTACTATAACTAAAAGTGCCCAAATATGTACCATGCTATAATAGTATTTACAATATATTTTCAGAAAAAATGACAATATTCAGATTAAATGCAGGAAAGAAAACATCACATTTTAACACTTAATATTTCCACTGATTCTTCATGCTCTGCAATTAGAAGATAATTTCACTTGTTTAGTTTTCTATCTATTCCAGCAGATTTGTGTTGAAATTTTTTTTCGCCATTAGAAACTGTGATTCTCTATGGGACCTTTTCAGTTTTGCACACCGATTTTGAAACCAAATCTAAAGTTAAGGAAAAATAAAATAGGTCTCAGAAACATTATTTTATTATTCTTAACATTTCAACATCATGAATAACAACTAAATTTGAAAATTACCTGGATTCTGTCTTCCTCTAGATTCAATTTTTGAGCTAAGTCTTCTCTAATATCGATACCAGGATAGCAGTTTACTCTAAAGACATTTTCTAACACTTCAATCTAAGAAAAAAAAATGTTGATATTCAGTATGTCTCCAAAAATGAGCTTTAATTTCTAGAGTAAAATGACTACATTTAAATCTTGGCAATTAATCTGGATGCCTTTTTAAAAATGATTACCTGGAAATTGTTAAAATATGGTAGTCTACTGTTTCATTAATAAGGCTTCTAAACTGAGATACCAAAGTGAGTGGGCTTTTGCTCAACTTGGTGTCAATTAAAGCCTTTATATTATCATTATTGGGTGAAAAAACTTCCCACCTGGTTTTGAGTAAAAGCAGTTCTTGGTCTTCGGCCTCTATACCAACTCAACTCTCTTTTCAAAGACAGTCTTTCTGAGGCTGAAAAGTAATTTTCATATTTCGAAGCTCTTTCTTCTGGCATTGGGTGATCCACCACGCTAGGGAATGAAATCCCACTGGGAGGATTTGGGACATGTAGACATAAGTTACCATCTTTCCCTAAAAACAAAAAAATAAGCCCTGTCTTAGATGGTCAATCTTATGTTCCACAAAGTTCTATAGAGGTAGTTTCAGGAACTCATCTTTCATTTCCTAGTGGAATTCTGGGGTTCACAAGAGAATTGCACCCCGTTAACCAAAAACCAATAAAAAATGAAGATCCTGTCTTGGTAATCCTGCCTCTTTGGTCTCTGAATGTCGTTTATTTTTCAGTGAAAAGAGATTTCAAATATCTGATGTGTCAAACAGGGAGAGATCTTCTGAAGTAAATGCAGGTTCTTGGGATTTCCTGTGAGTGAATTTATCCACTTTGCTCAATCCAAAGCTGATATTCTTTTAATTTCCCATAGGACTCAGTTGGAGGCATTAAAAGTCCTAGACTCTGGCTGGGCGTGGTGGGTCATGCCTGTAATCCTAACACTTTGGGAGGCTGAGGCAGGCGGATCACCTGAGGTCAGGAGTTCGAGACTAGCCTGACCAACAGGGTGAAACCCCCCTCTACTAAAAAATACAAAAATTAGCAGGCCATGGTGGTGCATGCCTGTAATCCCAGCTACTTGGCAGGCTGAGGCAGGAGAATCGTTTGAACCCAGGAGGCGGAGGCTGCAGTGAGCCAAGATTATGCCATTGCACTCCAGTCTTGGCAACAAGACCAACACTCTGTCTCAGAAAAAAAAAAAAAATAATAAATAATAATAATAAATTAAATTAAAGTCCTAAACTCTAGCTCTATGTAGTATGAAATAAAGGGCAAATTAAACACTGTAAATGAAATAACAAAGAATTGAAACAATTAAGCTGTGGCATACCTGATGAGCTGCAGGTGTCTGCCCAGGGCCTGTGGGGTTTCATTAATGGAACACAGTCTTTCTTCTGGTCCAGTCCTAAGATTCTCTCAATTGAAAAGGAGCAAGTTGAGGGTTTGTTTTCCCCGAGCTGAGCGCCTTCCTGAAGGCTGGGAGACATCCTCTCGTGGTCTGCACAGAGCAACAGCTCTGGCCTCTGCTGGCTCTGCCCCACGTGTATAGGGCTGGGATCTTCCTGCAGTTCACCTTATAGCTCCGCTGACAAGGGGGCTGGATTTAGAACGTCACTAATTAAAATCCTGTCTTAGAAAGTTTTAGCATGTCAATGAACACTTGCCCAGCCAGCAGCTTAAGGAGTTAATTGTTTATTTGTTTGCAAGTAATTAGCAACTAATGGCTACACCAGGGGGGCCACCTACAGGGACAAAAAGTGTTATCTCTCCTAAGCAGAACACAGACTTAACTTTCTCTAAAGAAGTGATGCACAAATGTGGCACTTATCTTTTATTTGAAATCATTAATGTATAAAATCAAGCTTTTTATTCTGAAGTTTATACTTTCATGGG
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Subsets and Splits
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