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_13600
|
A mutation in GRIN1 (glutamate ionotropic receptor NMDA type subunit 1), located on Chromosome 9, is being studied. Determine whether it’s pathogenic or benign, and specify the linked disease.
|
Pathogenic; Intellectual disability, autosomal dominant 8
|
CCAGGATGGTCTCGATCTCCTGACCTCGTGATCCGGCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACAGCACCTGGCGGGGAATCATGTCTAAGCCAAGACTGGAGAAAAAGTGGCCAAGAGAAGGGTCCAGCTCTCCAGGAGTCTTTTCTGAGCCCCCAGCCCCCACCCCCCCGGGGCTGCAGGCAGACGATGCTGACGGTGGCTGGGGAGGACGTGTCCTGAACACTTGGGCTCGTGAAGAAGCTCCAGAGAGGGGCAGTGGCCGGCGGCGCAGGGCGGGGGGTGTGAGGGGTGCGTCGGGGATTAAGAGGGGCGCCAGGGGAGGCTGGGAGCTGAGAAGAGACTGCCGCCCTGGGCAGCCTTAGGTCGGTGGTCCAGGCTGGGTCTCCCCTTCCCCCCCAGATTGTGACGATCCACCAGGAGCCCTTCGTGTACGTCAAGCCCACGCTGAGTGATGGGACATGCAAGGAGGAGTTCACAGTCAACGGCGACCCAGTCAAGAAGGTGATCTGCACCGGGCCCAACGACACGTCGCCGGGCAGCCGTGAGTGCGCGGGGCAGGGCGCGGGGCGCGGGGCAGGGCGCGGGGCGTGGGGCGGTCTGGAGCCCAGCAGTTACCGCCCGCACCTACCCAGCCCGCCACACGGTGCCTCAGTGTTGCTACGGCTTTTGCATCGACCTGCTCATCAAGCTGGCACGGACCATGAACTTCACCTACGAGGTGCACCTGGTGGCAGATGGCAAGTTCGGCACACAGGAGCGGGTAGGCTGGACGGCGGGGGTGGGGACCAGCGTGAGAGGGGCCTGCAGGCGCGGTCGGAGTGGGTGGGGCATGGAGTAGGCGGGGCTTGCAGATGGTGGGGGGTCCTGGGGTGAGTGGGGCATGGAGTGAGCGGAGCCTGCGGGCTGGGTCCTGGCGTGGGTAAAGCATGGGGTGGGCGGGGCCTGAGGGCTGGGTGGGGCCTGACATGGGAGGGGCCTGACGTGGGGGTCGGAGTGGGTGGGGCACGGAGTGGGCAGGGCCTGCAGGCGGGGGTCTGGAGTGGGCGGGACGTGGAGTGGGCGGGGCCTGCTGGCTGTGGTGGGGCCCGCCCGGCGTGGGAGGGGTCTGCGAGCCAGGGCGGGGCTGGAGTGGGGTGGGGCCTGCGAGCTGGGTAGGGTCTTGGGGAGAAGACCCCCGGAGTGCTCTAGGGCGGCTTCAGTCGGGGGTACCTGTGGCGGGAGCTGGGAGGACGCTGCCTGCATGCCCGCCGGCTCTGTCGCCTCGCAGGTGAACAACAGCAACAAGAAGGAGTGGAATGGGATGATGGGCGAGCTGCTCAGCGGGCAGGCAGACATGATCGTGGCGCCGCTAACCATAAACAACGAGCGCGCGCAGTACATCGAGTTTTCCAAGCCCTTCAAGTACCAGGGCCTGACTATTCTGGTCAAGAAGGTGGGCAGGGGCCGGGTGGCGGGGTGGCGGCGGGGGGAGTCCCTGGAGGGCCCGGGCCGCGCTGACCTCGCGTCCCTCCGCAGGAGATTCCCCGGAGCACGCTGGACTCGTTCATGCAGCCGTTCCAGAGCACACTGTGGCTGCTGGTGGGGCTGTCGGTGCACGTGGTGGCCGTGATGCTGTACCTGCTGGACCGCTTCAGGTGAGCGCGACCCGGGGCTCAGACACCTCCATCTGCGGGGCGCGGAGCCGGCCAGGGGCGGGGCAGGGCCGCCTCTCCCGCCCTCTCTCCCGCCCGCCCTCTGCGCCCCGCAGCCCCTTCGGCCGGTTCAAGGTGAACAGCGAGGAGGAGGAGGAGGACGCACTGACCCTGTCCTCGGCCATGTGGTTCTCCTGGGGCGTCCTGCTCAACTCCGGCATCGGGGAAGGTAAGGCCCCGCCCGGCCCGCCTGGTCCCGCCTCGGCCCTCTAGGGTCTGACAGAGCCCCCCGCCCGCCCACAGGCGCCCCCAGAAGCTTCTCAGCGCGCATCCTGGGCATGGTGTGGGCCGGCTTTGCCATGATCATCGTGGCCTCCTACACCGCCAACCTGGCGGCCTTCCTGGTGCTGGACCGGCCGGAGGAGCGCATCACGGGCATCAACGACCCTCGGGTGAGGCCTGGCCGGGCTGGGGGAGGGAATGCGAGGTGAGCTGGGGTCGGCCTCGGTTAGGGGCCTGGGGAGCCGCCGCCGCGATCCCTGCCCTCCGACCCTGCAGCTGAGGAACCCCTCGGACAAGTTTATCTACGCCACGGTGAAGCAGAGCTCCGTGGATATCTACTTCCGGCGCCAGGTGGAGCTGAGCACCATGTACCGGCATATGGAGAAGCACAACTACGAGAGTGCGGCGGAGGCCATCCAGGCCGTGAGAGACAAGTGAGGCGCGGGCGGCCACCCTGGCGGGGCGGGACAGGTGCGGGGAGGGGGAGGGTGGCCTCCACCGGGCAGGAGAGCGTCCGGGCCGGGCACCCCGGAGGGCGCGGGCGTGGGGCTTCCAGGCTGGCAGGACCAAGGCCCCCGTGACTCCGCCTCTGCCGGCAGCAAGCTGCATGCCTTCATCTGGGACTCGGCGGTGCTGGAGTTCGAGGCCTCGCAGAAGTGCGACCTGGTGACGACTGGAGAGCTGTTTTTCCGCTCGGGCTTCGGCATAGGCATGCGCAAAGACAGCCCCTGGAAGCAGAACGTCTCCCTGTCCATCCTCAAGTGAGTGTCCGTGCGCCCGCGTCCCTCCTCCGCCCCTCTCCGCCAGAGGTGGACGCCCTCCCCAGTGCCAGACCACTCCGAGGCCACCACTGATTTCCCACCCAGGCCGGGCGCTGCCCACTCCACGCCGCACCCTACCCCGCAGGCCCCGCCCCGGCCCCGCCCCCAGCTTGCTCCTTCCCGTCCTGGGCCCCGCCTCACTGCAGGCTCACTTGTTCCCACCGCCAGGTCCCACGAGAATGGCTTCATGGAAGACCTGGACAAGACGTGGGTTCGGTATCAGGAATGTGACTCGCGCAGCAACGCCCCTGCGACCCTTACTTTTGAGAACATGGCCGGTGCGTTCTCCTTCATCCATTCTCGGGTGGGTTCTCCGTGGGCTGCGGCCTCCCTGGCCAGCAACTGAGGCTCTGGGTCCCGGCACACAGGGGTCTTCATGCTGGTAGCTGGGGGCATCGTGGCCGGGATCTTCCTGATTTTCATCGAGATTGCCTACAAGCGGCACAAGGATGCTCGCCGGAAGCAGATGCAGCTGGCCTTTGCCGCCGTTAACGTGTGGCGGAAGAACCTGCAGGTAGGGCAGGCCACCCTCCGAGGCCTGGTGCCCAGGGCCCGGCCTGGCCACGGCCCTCCTCCATCCCCGAAGGCCGTGGCACTGGCTCTGGCTCTGGTGGGCAGGACTGGAGCTAGGAGCCATGGCCAGGGGCAGTGGTGAGTGCTCCCAGGGCACGGGGGCAGCACCGGTGGGGGGCTGCCTGCAGGTGGCTGCCCACTGCAAAGCCGGGGCCGAGGGAGGCCACGCACCCTGCTCCAAGCCTCCGCCTGGCCCCTCTGTCTCCAGAGTCGCCCGCCGGTACCCATTCCATAGGAAGGCAATCAGGCAGGGTAAGACAGGGGCCCGCCTGTGTATGGCACGTGAGTCCAAGATGCATTTTGCCCTCCGCCGACCCAAGCCCCTTGACACCCTTCGGAGACCCCCCCCTTTCCTGCTATGTCCTTGTGCTCCGTGACTCTAATCCGAATTGGGCCAGGTCCGGTCCTGCCTGGTGCCCAGGTTGTATCCATGAGAATTTGCCACCAGCAAGGGCAGCCACGGCCCACCTGGGACAGGGTGGGCAGTGGGCCTGTACAGGCCTAAGGGCTCGTGGCCCGCGGTCGAGTTCCGGTTCACTCCGTCTCTTCTCTTTCTCTGGGTGCCGTCCTGGAGCCTGTGTCCTGAGATGAAGCCGACAGTGCGGCCAGGGCTGCTGGGGGATGGGGGTTGCTGGAGGCTCCACACCTCTCATCCGCCCGCTCTTGCTCTTGGCCCCCACAGGTCCCCTGGGGACCTGGCCGCTGCCAGCACTGGCGGGCACAGGCCACCTGGCCATCAGACCTGAGGCCAGAGTCCCGGGAGCTGCCTCT
|
CCAGGATGGTCTCGATCTCCTGACCTCGTGATCCGGCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACAGCACCTGGCGGGGAATCATGTCTAAGCCAAGACTGGAGAAAAAGTGGCCAAGAGAAGGGTCCAGCTCTCCAGGAGTCTTTTCTGAGCCCCCAGCCCCCACCCCCCCGGGGCTGCAGGCAGACGATGCTGACGGTGGCTGGGGAGGACGTGTCCTGAACACTTGGGCTCGTGAAGAAGCTCCAGAGAGGGGCAGTGGCCGGCGGCGCAGGGCGGGGGGTGTGAGGGGTGCGTCGGGGATTAAGAGGGGCGCCAGGGGAGGCTGGGAGCTGAGAAGAGACTGCCGCCCTGGGCAGCCTTAGGTCGGTGGTCCAGGCTGGGTCTCCCCTTCCCCCCCAGATTGTGACGATCCACCAGGAGCCCTTCGTGTACGTCAAGCCCACGCTGAGTGATGGGACATGCAAGGAGGAGTTCACAGTCAACGGCGACCCAGTCAAGAAGGTGATCTGCACCGGGCCCAACGACACGTCGCCGGGCAGCCGTGAGTGCGCGGGGCAGGGCGCGGGGCGCGGGGCAGGGCGCGGGGCGTGGGGCGGTCTGGAGCCCAGCAGTTACCGCCCGCACCTACCCAGCCCGCCACACGGTGCCTCAGTGTTGCTACGGCTTTTGCATCGACCTGCTCATCAAGCTGGCACGGACCATGAACTTCACCTACGAGGTGCACCTGGTGGCAGATGGCAAGTTCGGCACACAGGAGCGGGTAGGCTGGACGGCGGGGGTGGGGACCAGCGTGAGAGGGGCCTGCAGGCGCGGTCGGAGTGGGTGGGGCATGGAGTAGGCGGGGCTTGCAGATGGTGGGGGGTCCTGGGGTGAGTGGGGCATGGAGTGAGCGGAGCCTGCGGGCTGGGTCCTGGCGTGGGTAAAGCATGGGGTGGGCGGGGCCTGAGGGCTGGGTGGGGCCTGACATGGGAGGGGCCTGACGTGGGGGTCGGAGTGGGTGGGGCACGGAGTGGGCAGGGCCTGCAGGCGGGGGTCTGGAGTGGGCGGGACGTGGAGTGGGCGGGGCCTGCTGGCTGTGGTGGGGCCCGCCCGGCGTGGGAGGGGTCTGCGAGCCAGGGCGGGGCTGGAGTGGGGTGGGGCCTGCGAGCTGGGTAGGGTCTTGGGGAGAAGACCCCCGGAGTGCTCTAGGGCGGCTTCAGTCGGGGGTACCTGTGGCGGGAGCTGGGAGGACGCTGCCTGCATGCCCGCCGGCTCTGTCGCCTCGCAGGTGAACAACAGCAACAAGAAGGAGTGGAATGGGATGATGGGCGAGCTGCTCAGCGGGCAGGCAGACATGATCGTGGCGCCGCTAACCATAAACAACGAGCGCGCGCAGTACATCGAGTTTTCCAAGCCCTTCAAGTACCAGGGCCTGACTATTCTGGTCAAGAAGGTGGGCAGGGGCCGGGTGGCGGGGTGGCGGCGGGGGGAGTCCCTGGAGGGCCCGGGCCGCGCTGACCTCGCGTCCCTCCGCAGGAGATTCCCCGGAGCACGCTGGACTCGTTCATGCAGCCGTTCCAGAGCACACTGTGGCTGCTGGTGGGGCTGTCGGTGCACGTGGTGGCCGTGATGCTGTACCTGCTGGACCGCTTCAGGTGAGCGCGACCCGGGGCTCAGACACCTCCATCTGCGGGGCGCGGAGCCGGCCAGGGGCGGGGCAGGGCCGCCTCTCCCGCCCTCTCTCCCGCCCGCCCTCTGCGCCCCGCAGCCCCTTCGGCCGGTTCAAGGTGAACAGCGAGGAGGAGGAGGAGGACGCACTGACCCTGTCCTCGGCCATGTGGTTCTCCTGGGGCGTCCTGCTCAACTCCGGCATCGGGGAAGGTAAGGCCCCGCCCGGCCCGCCTGGTCCCGCCTCGGCCCTCTAGGGTCTGACAGAGCCCCCCGCCCGCCCACAGGCGCCCCCAGAAGCTTCTCAGCGCGCATCCTGGGCATGGTGTGGGCCGGCTTTGCCATGATCATCGTGGCCTCCTACACCGCCAACCTGGCGGCCTGCCTGGTGCTGGACCGGCCGGAGGAGCGCATCACGGGCATCAACGACCCTCGGGTGAGGCCTGGCCGGGCTGGGGGAGGGAATGCGAGGTGAGCTGGGGTCGGCCTCGGTTAGGGGCCTGGGGAGCCGCCGCCGCGATCCCTGCCCTCCGACCCTGCAGCTGAGGAACCCCTCGGACAAGTTTATCTACGCCACGGTGAAGCAGAGCTCCGTGGATATCTACTTCCGGCGCCAGGTGGAGCTGAGCACCATGTACCGGCATATGGAGAAGCACAACTACGAGAGTGCGGCGGAGGCCATCCAGGCCGTGAGAGACAAGTGAGGCGCGGGCGGCCACCCTGGCGGGGCGGGACAGGTGCGGGGAGGGGGAGGGTGGCCTCCACCGGGCAGGAGAGCGTCCGGGCCGGGCACCCCGGAGGGCGCGGGCGTGGGGCTTCCAGGCTGGCAGGACCAAGGCCCCCGTGACTCCGCCTCTGCCGGCAGCAAGCTGCATGCCTTCATCTGGGACTCGGCGGTGCTGGAGTTCGAGGCCTCGCAGAAGTGCGACCTGGTGACGACTGGAGAGCTGTTTTTCCGCTCGGGCTTCGGCATAGGCATGCGCAAAGACAGCCCCTGGAAGCAGAACGTCTCCCTGTCCATCCTCAAGTGAGTGTCCGTGCGCCCGCGTCCCTCCTCCGCCCCTCTCCGCCAGAGGTGGACGCCCTCCCCAGTGCCAGACCACTCCGAGGCCACCACTGATTTCCCACCCAGGCCGGGCGCTGCCCACTCCACGCCGCACCCTACCCCGCAGGCCCCGCCCCGGCCCCGCCCCCAGCTTGCTCCTTCCCGTCCTGGGCCCCGCCTCACTGCAGGCTCACTTGTTCCCACCGCCAGGTCCCACGAGAATGGCTTCATGGAAGACCTGGACAAGACGTGGGTTCGGTATCAGGAATGTGACTCGCGCAGCAACGCCCCTGCGACCCTTACTTTTGAGAACATGGCCGGTGCGTTCTCCTTCATCCATTCTCGGGTGGGTTCTCCGTGGGCTGCGGCCTCCCTGGCCAGCAACTGAGGCTCTGGGTCCCGGCACACAGGGGTCTTCATGCTGGTAGCTGGGGGCATCGTGGCCGGGATCTTCCTGATTTTCATCGAGATTGCCTACAAGCGGCACAAGGATGCTCGCCGGAAGCAGATGCAGCTGGCCTTTGCCGCCGTTAACGTGTGGCGGAAGAACCTGCAGGTAGGGCAGGCCACCCTCCGAGGCCTGGTGCCCAGGGCCCGGCCTGGCCACGGCCCTCCTCCATCCCCGAAGGCCGTGGCACTGGCTCTGGCTCTGGTGGGCAGGACTGGAGCTAGGAGCCATGGCCAGGGGCAGTGGTGAGTGCTCCCAGGGCACGGGGGCAGCACCGGTGGGGGGCTGCCTGCAGGTGGCTGCCCACTGCAAAGCCGGGGCCGAGGGAGGCCACGCACCCTGCTCCAAGCCTCCGCCTGGCCCCTCTGTCTCCAGAGTCGCCCGCCGGTACCCATTCCATAGGAAGGCAATCAGGCAGGGTAAGACAGGGGCCCGCCTGTGTATGGCACGTGAGTCCAAGATGCATTTTGCCCTCCGCCGACCCAAGCCCCTTGACACCCTTCGGAGACCCCCCCCTTTCCTGCTATGTCCTTGTGCTCCGTGACTCTAATCCGAATTGGGCCAGGTCCGGTCCTGCCTGGTGCCCAGGTTGTATCCATGAGAATTTGCCACCAGCAAGGGCAGCCACGGCCCACCTGGGACAGGGTGGGCAGTGGGCCTGTACAGGCCTAAGGGCTCGTGGCCCGCGGTCGAGTTCCGGTTCACTCCGTCTCTTCTCTTTCTCTGGGTGCCGTCCTGGAGCCTGTGTCCTGAGATGAAGCCGACAGTGCGGCCAGGGCTGCTGGGGGATGGGGGTTGCTGGAGGCTCCACACCTCTCATCCGCCCGCTCTTGCTCTTGGCCCCCACAGGTCCCCTGGGGACCTGGCCGCTGCCAGCACTGGCGGGCACAGGCCACCTGGCCATCAGACCTGAGGCCAGAGTCCCGGGAGCTGCCTCT
|
Task1_train_13601
|
Given this variant in gene GRIN1 (glutamate ionotropic receptor NMDA type subunit 1) on Chromosome 9, classify it as benign or pathogenic. Include the disorder it may cause if applicable.
|
Pathogenic; Intellectual disability, autosomal dominant 8
|
ATCTCCTGACCTCGTGATCCGGCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACAGCACCTGGCGGGGAATCATGTCTAAGCCAAGACTGGAGAAAAAGTGGCCAAGAGAAGGGTCCAGCTCTCCAGGAGTCTTTTCTGAGCCCCCAGCCCCCACCCCCCCGGGGCTGCAGGCAGACGATGCTGACGGTGGCTGGGGAGGACGTGTCCTGAACACTTGGGCTCGTGAAGAAGCTCCAGAGAGGGGCAGTGGCCGGCGGCGCAGGGCGGGGGGTGTGAGGGGTGCGTCGGGGATTAAGAGGGGCGCCAGGGGAGGCTGGGAGCTGAGAAGAGACTGCCGCCCTGGGCAGCCTTAGGTCGGTGGTCCAGGCTGGGTCTCCCCTTCCCCCCCAGATTGTGACGATCCACCAGGAGCCCTTCGTGTACGTCAAGCCCACGCTGAGTGATGGGACATGCAAGGAGGAGTTCACAGTCAACGGCGACCCAGTCAAGAAGGTGATCTGCACCGGGCCCAACGACACGTCGCCGGGCAGCCGTGAGTGCGCGGGGCAGGGCGCGGGGCGCGGGGCAGGGCGCGGGGCGTGGGGCGGTCTGGAGCCCAGCAGTTACCGCCCGCACCTACCCAGCCCGCCACACGGTGCCTCAGTGTTGCTACGGCTTTTGCATCGACCTGCTCATCAAGCTGGCACGGACCATGAACTTCACCTACGAGGTGCACCTGGTGGCAGATGGCAAGTTCGGCACACAGGAGCGGGTAGGCTGGACGGCGGGGGTGGGGACCAGCGTGAGAGGGGCCTGCAGGCGCGGTCGGAGTGGGTGGGGCATGGAGTAGGCGGGGCTTGCAGATGGTGGGGGGTCCTGGGGTGAGTGGGGCATGGAGTGAGCGGAGCCTGCGGGCTGGGTCCTGGCGTGGGTAAAGCATGGGGTGGGCGGGGCCTGAGGGCTGGGTGGGGCCTGACATGGGAGGGGCCTGACGTGGGGGTCGGAGTGGGTGGGGCACGGAGTGGGCAGGGCCTGCAGGCGGGGGTCTGGAGTGGGCGGGACGTGGAGTGGGCGGGGCCTGCTGGCTGTGGTGGGGCCCGCCCGGCGTGGGAGGGGTCTGCGAGCCAGGGCGGGGCTGGAGTGGGGTGGGGCCTGCGAGCTGGGTAGGGTCTTGGGGAGAAGACCCCCGGAGTGCTCTAGGGCGGCTTCAGTCGGGGGTACCTGTGGCGGGAGCTGGGAGGACGCTGCCTGCATGCCCGCCGGCTCTGTCGCCTCGCAGGTGAACAACAGCAACAAGAAGGAGTGGAATGGGATGATGGGCGAGCTGCTCAGCGGGCAGGCAGACATGATCGTGGCGCCGCTAACCATAAACAACGAGCGCGCGCAGTACATCGAGTTTTCCAAGCCCTTCAAGTACCAGGGCCTGACTATTCTGGTCAAGAAGGTGGGCAGGGGCCGGGTGGCGGGGTGGCGGCGGGGGGAGTCCCTGGAGGGCCCGGGCCGCGCTGACCTCGCGTCCCTCCGCAGGAGATTCCCCGGAGCACGCTGGACTCGTTCATGCAGCCGTTCCAGAGCACACTGTGGCTGCTGGTGGGGCTGTCGGTGCACGTGGTGGCCGTGATGCTGTACCTGCTGGACCGCTTCAGGTGAGCGCGACCCGGGGCTCAGACACCTCCATCTGCGGGGCGCGGAGCCGGCCAGGGGCGGGGCAGGGCCGCCTCTCCCGCCCTCTCTCCCGCCCGCCCTCTGCGCCCCGCAGCCCCTTCGGCCGGTTCAAGGTGAACAGCGAGGAGGAGGAGGAGGACGCACTGACCCTGTCCTCGGCCATGTGGTTCTCCTGGGGCGTCCTGCTCAACTCCGGCATCGGGGAAGGTAAGGCCCCGCCCGGCCCGCCTGGTCCCGCCTCGGCCCTCTAGGGTCTGACAGAGCCCCCCGCCCGCCCACAGGCGCCCCCAGAAGCTTCTCAGCGCGCATCCTGGGCATGGTGTGGGCCGGCTTTGCCATGATCATCGTGGCCTCCTACACCGCCAACCTGGCGGCCTTCCTGGTGCTGGACCGGCCGGAGGAGCGCATCACGGGCATCAACGACCCTCGGGTGAGGCCTGGCCGGGCTGGGGGAGGGAATGCGAGGTGAGCTGGGGTCGGCCTCGGTTAGGGGCCTGGGGAGCCGCCGCCGCGATCCCTGCCCTCCGACCCTGCAGCTGAGGAACCCCTCGGACAAGTTTATCTACGCCACGGTGAAGCAGAGCTCCGTGGATATCTACTTCCGGCGCCAGGTGGAGCTGAGCACCATGTACCGGCATATGGAGAAGCACAACTACGAGAGTGCGGCGGAGGCCATCCAGGCCGTGAGAGACAAGTGAGGCGCGGGCGGCCACCCTGGCGGGGCGGGACAGGTGCGGGGAGGGGGAGGGTGGCCTCCACCGGGCAGGAGAGCGTCCGGGCCGGGCACCCCGGAGGGCGCGGGCGTGGGGCTTCCAGGCTGGCAGGACCAAGGCCCCCGTGACTCCGCCTCTGCCGGCAGCAAGCTGCATGCCTTCATCTGGGACTCGGCGGTGCTGGAGTTCGAGGCCTCGCAGAAGTGCGACCTGGTGACGACTGGAGAGCTGTTTTTCCGCTCGGGCTTCGGCATAGGCATGCGCAAAGACAGCCCCTGGAAGCAGAACGTCTCCCTGTCCATCCTCAAGTGAGTGTCCGTGCGCCCGCGTCCCTCCTCCGCCCCTCTCCGCCAGAGGTGGACGCCCTCCCCAGTGCCAGACCACTCCGAGGCCACCACTGATTTCCCACCCAGGCCGGGCGCTGCCCACTCCACGCCGCACCCTACCCCGCAGGCCCCGCCCCGGCCCCGCCCCCAGCTTGCTCCTTCCCGTCCTGGGCCCCGCCTCACTGCAGGCTCACTTGTTCCCACCGCCAGGTCCCACGAGAATGGCTTCATGGAAGACCTGGACAAGACGTGGGTTCGGTATCAGGAATGTGACTCGCGCAGCAACGCCCCTGCGACCCTTACTTTTGAGAACATGGCCGGTGCGTTCTCCTTCATCCATTCTCGGGTGGGTTCTCCGTGGGCTGCGGCCTCCCTGGCCAGCAACTGAGGCTCTGGGTCCCGGCACACAGGGGTCTTCATGCTGGTAGCTGGGGGCATCGTGGCCGGGATCTTCCTGATTTTCATCGAGATTGCCTACAAGCGGCACAAGGATGCTCGCCGGAAGCAGATGCAGCTGGCCTTTGCCGCCGTTAACGTGTGGCGGAAGAACCTGCAGGTAGGGCAGGCCACCCTCCGAGGCCTGGTGCCCAGGGCCCGGCCTGGCCACGGCCCTCCTCCATCCCCGAAGGCCGTGGCACTGGCTCTGGCTCTGGTGGGCAGGACTGGAGCTAGGAGCCATGGCCAGGGGCAGTGGTGAGTGCTCCCAGGGCACGGGGGCAGCACCGGTGGGGGGCTGCCTGCAGGTGGCTGCCCACTGCAAAGCCGGGGCCGAGGGAGGCCACGCACCCTGCTCCAAGCCTCCGCCTGGCCCCTCTGTCTCCAGAGTCGCCCGCCGGTACCCATTCCATAGGAAGGCAATCAGGCAGGGTAAGACAGGGGCCCGCCTGTGTATGGCACGTGAGTCCAAGATGCATTTTGCCCTCCGCCGACCCAAGCCCCTTGACACCCTTCGGAGACCCCCCCCTTTCCTGCTATGTCCTTGTGCTCCGTGACTCTAATCCGAATTGGGCCAGGTCCGGTCCTGCCTGGTGCCCAGGTTGTATCCATGAGAATTTGCCACCAGCAAGGGCAGCCACGGCCCACCTGGGACAGGGTGGGCAGTGGGCCTGTACAGGCCTAAGGGCTCGTGGCCCGCGGTCGAGTTCCGGTTCACTCCGTCTCTTCTCTTTCTCTGGGTGCCGTCCTGGAGCCTGTGTCCTGAGATGAAGCCGACAGTGCGGCCAGGGCTGCTGGGGGATGGGGGTTGCTGGAGGCTCCACACCTCTCATCCGCCCGCTCTTGCTCTTGGCCCCCACAGGTCCCCTGGGGACCTGGCCGCTGCCAGCACTGGCGGGCACAGGCCACCTGGCCATCAGACCTGAGGCCAGAGTCCCGGGAGCTGCCTCTGTCACTCCAATTCC
|
ATCTCCTGACCTCGTGATCCGGCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACAGCACCTGGCGGGGAATCATGTCTAAGCCAAGACTGGAGAAAAAGTGGCCAAGAGAAGGGTCCAGCTCTCCAGGAGTCTTTTCTGAGCCCCCAGCCCCCACCCCCCCGGGGCTGCAGGCAGACGATGCTGACGGTGGCTGGGGAGGACGTGTCCTGAACACTTGGGCTCGTGAAGAAGCTCCAGAGAGGGGCAGTGGCCGGCGGCGCAGGGCGGGGGGTGTGAGGGGTGCGTCGGGGATTAAGAGGGGCGCCAGGGGAGGCTGGGAGCTGAGAAGAGACTGCCGCCCTGGGCAGCCTTAGGTCGGTGGTCCAGGCTGGGTCTCCCCTTCCCCCCCAGATTGTGACGATCCACCAGGAGCCCTTCGTGTACGTCAAGCCCACGCTGAGTGATGGGACATGCAAGGAGGAGTTCACAGTCAACGGCGACCCAGTCAAGAAGGTGATCTGCACCGGGCCCAACGACACGTCGCCGGGCAGCCGTGAGTGCGCGGGGCAGGGCGCGGGGCGCGGGGCAGGGCGCGGGGCGTGGGGCGGTCTGGAGCCCAGCAGTTACCGCCCGCACCTACCCAGCCCGCCACACGGTGCCTCAGTGTTGCTACGGCTTTTGCATCGACCTGCTCATCAAGCTGGCACGGACCATGAACTTCACCTACGAGGTGCACCTGGTGGCAGATGGCAAGTTCGGCACACAGGAGCGGGTAGGCTGGACGGCGGGGGTGGGGACCAGCGTGAGAGGGGCCTGCAGGCGCGGTCGGAGTGGGTGGGGCATGGAGTAGGCGGGGCTTGCAGATGGTGGGGGGTCCTGGGGTGAGTGGGGCATGGAGTGAGCGGAGCCTGCGGGCTGGGTCCTGGCGTGGGTAAAGCATGGGGTGGGCGGGGCCTGAGGGCTGGGTGGGGCCTGACATGGGAGGGGCCTGACGTGGGGGTCGGAGTGGGTGGGGCACGGAGTGGGCAGGGCCTGCAGGCGGGGGTCTGGAGTGGGCGGGACGTGGAGTGGGCGGGGCCTGCTGGCTGTGGTGGGGCCCGCCCGGCGTGGGAGGGGTCTGCGAGCCAGGGCGGGGCTGGAGTGGGGTGGGGCCTGCGAGCTGGGTAGGGTCTTGGGGAGAAGACCCCCGGAGTGCTCTAGGGCGGCTTCAGTCGGGGGTACCTGTGGCGGGAGCTGGGAGGACGCTGCCTGCATGCCCGCCGGCTCTGTCGCCTCGCAGGTGAACAACAGCAACAAGAAGGAGTGGAATGGGATGATGGGCGAGCTGCTCAGCGGGCAGGCAGACATGATCGTGGCGCCGCTAACCATAAACAACGAGCGCGCGCAGTACATCGAGTTTTCCAAGCCCTTCAAGTACCAGGGCCTGACTATTCTGGTCAAGAAGGTGGGCAGGGGCCGGGTGGCGGGGTGGCGGCGGGGGGAGTCCCTGGAGGGCCCGGGCCGCGCTGACCTCGCGTCCCTCCGCAGGAGATTCCCCGGAGCACGCTGGACTCGTTCATGCAGCCGTTCCAGAGCACACTGTGGCTGCTGGTGGGGCTGTCGGTGCACGTGGTGGCCGTGATGCTGTACCTGCTGGACCGCTTCAGGTGAGCGCGACCCGGGGCTCAGACACCTCCATCTGCGGGGCGCGGAGCCGGCCAGGGGCGGGGCAGGGCCGCCTCTCCCGCCCTCTCTCCCGCCCGCCCTCTGCGCCCCGCAGCCCCTTCGGCCGGTTCAAGGTGAACAGCGAGGAGGAGGAGGAGGACGCACTGACCCTGTCCTCGGCCATGTGGTTCTCCTGGGGCGTCCTGCTCAACTCCGGCATCGGGGAAGGTAAGGCCCCGCCCGGCCCGCCTGGTCCCGCCTCGGCCCTCTAGGGTCTGACAGAGCCCCCCGCCCGCCCACAGGCGCCCCCAGAAGCTTCTCAGCGCGCATCCTGGGCATGGTGTGGGCCGGCTTTGCCATGATCATCGTGGCCTCCTACACCGCCAACCTGGCGGCCTTCCTGGTGCTGGACTGGCCGGAGGAGCGCATCACGGGCATCAACGACCCTCGGGTGAGGCCTGGCCGGGCTGGGGGAGGGAATGCGAGGTGAGCTGGGGTCGGCCTCGGTTAGGGGCCTGGGGAGCCGCCGCCGCGATCCCTGCCCTCCGACCCTGCAGCTGAGGAACCCCTCGGACAAGTTTATCTACGCCACGGTGAAGCAGAGCTCCGTGGATATCTACTTCCGGCGCCAGGTGGAGCTGAGCACCATGTACCGGCATATGGAGAAGCACAACTACGAGAGTGCGGCGGAGGCCATCCAGGCCGTGAGAGACAAGTGAGGCGCGGGCGGCCACCCTGGCGGGGCGGGACAGGTGCGGGGAGGGGGAGGGTGGCCTCCACCGGGCAGGAGAGCGTCCGGGCCGGGCACCCCGGAGGGCGCGGGCGTGGGGCTTCCAGGCTGGCAGGACCAAGGCCCCCGTGACTCCGCCTCTGCCGGCAGCAAGCTGCATGCCTTCATCTGGGACTCGGCGGTGCTGGAGTTCGAGGCCTCGCAGAAGTGCGACCTGGTGACGACTGGAGAGCTGTTTTTCCGCTCGGGCTTCGGCATAGGCATGCGCAAAGACAGCCCCTGGAAGCAGAACGTCTCCCTGTCCATCCTCAAGTGAGTGTCCGTGCGCCCGCGTCCCTCCTCCGCCCCTCTCCGCCAGAGGTGGACGCCCTCCCCAGTGCCAGACCACTCCGAGGCCACCACTGATTTCCCACCCAGGCCGGGCGCTGCCCACTCCACGCCGCACCCTACCCCGCAGGCCCCGCCCCGGCCCCGCCCCCAGCTTGCTCCTTCCCGTCCTGGGCCCCGCCTCACTGCAGGCTCACTTGTTCCCACCGCCAGGTCCCACGAGAATGGCTTCATGGAAGACCTGGACAAGACGTGGGTTCGGTATCAGGAATGTGACTCGCGCAGCAACGCCCCTGCGACCCTTACTTTTGAGAACATGGCCGGTGCGTTCTCCTTCATCCATTCTCGGGTGGGTTCTCCGTGGGCTGCGGCCTCCCTGGCCAGCAACTGAGGCTCTGGGTCCCGGCACACAGGGGTCTTCATGCTGGTAGCTGGGGGCATCGTGGCCGGGATCTTCCTGATTTTCATCGAGATTGCCTACAAGCGGCACAAGGATGCTCGCCGGAAGCAGATGCAGCTGGCCTTTGCCGCCGTTAACGTGTGGCGGAAGAACCTGCAGGTAGGGCAGGCCACCCTCCGAGGCCTGGTGCCCAGGGCCCGGCCTGGCCACGGCCCTCCTCCATCCCCGAAGGCCGTGGCACTGGCTCTGGCTCTGGTGGGCAGGACTGGAGCTAGGAGCCATGGCCAGGGGCAGTGGTGAGTGCTCCCAGGGCACGGGGGCAGCACCGGTGGGGGGCTGCCTGCAGGTGGCTGCCCACTGCAAAGCCGGGGCCGAGGGAGGCCACGCACCCTGCTCCAAGCCTCCGCCTGGCCCCTCTGTCTCCAGAGTCGCCCGCCGGTACCCATTCCATAGGAAGGCAATCAGGCAGGGTAAGACAGGGGCCCGCCTGTGTATGGCACGTGAGTCCAAGATGCATTTTGCCCTCCGCCGACCCAAGCCCCTTGACACCCTTCGGAGACCCCCCCCTTTCCTGCTATGTCCTTGTGCTCCGTGACTCTAATCCGAATTGGGCCAGGTCCGGTCCTGCCTGGTGCCCAGGTTGTATCCATGAGAATTTGCCACCAGCAAGGGCAGCCACGGCCCACCTGGGACAGGGTGGGCAGTGGGCCTGTACAGGCCTAAGGGCTCGTGGCCCGCGGTCGAGTTCCGGTTCACTCCGTCTCTTCTCTTTCTCTGGGTGCCGTCCTGGAGCCTGTGTCCTGAGATGAAGCCGACAGTGCGGCCAGGGCTGCTGGGGGATGGGGGTTGCTGGAGGCTCCACACCTCTCATCCGCCCGCTCTTGCTCTTGGCCCCCACAGGTCCCCTGGGGACCTGGCCGCTGCCAGCACTGGCGGGCACAGGCCACCTGGCCATCAGACCTGAGGCCAGAGTCCCGGGAGCTGCCTCTGTCACTCCAATTCC
|
Task1_train_13602
|
The gene GRIN1 (glutamate ionotropic receptor NMDA type subunit 1) is located on Chromosome 9, where a mutation has occurred. What is the medical relevance of this mutation?
|
Pathogenic; Intellectual disability, autosomal dominant 8
|
CCTCGTGATCCGGCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACAGCACCTGGCGGGGAATCATGTCTAAGCCAAGACTGGAGAAAAAGTGGCCAAGAGAAGGGTCCAGCTCTCCAGGAGTCTTTTCTGAGCCCCCAGCCCCCACCCCCCCGGGGCTGCAGGCAGACGATGCTGACGGTGGCTGGGGAGGACGTGTCCTGAACACTTGGGCTCGTGAAGAAGCTCCAGAGAGGGGCAGTGGCCGGCGGCGCAGGGCGGGGGGTGTGAGGGGTGCGTCGGGGATTAAGAGGGGCGCCAGGGGAGGCTGGGAGCTGAGAAGAGACTGCCGCCCTGGGCAGCCTTAGGTCGGTGGTCCAGGCTGGGTCTCCCCTTCCCCCCCAGATTGTGACGATCCACCAGGAGCCCTTCGTGTACGTCAAGCCCACGCTGAGTGATGGGACATGCAAGGAGGAGTTCACAGTCAACGGCGACCCAGTCAAGAAGGTGATCTGCACCGGGCCCAACGACACGTCGCCGGGCAGCCGTGAGTGCGCGGGGCAGGGCGCGGGGCGCGGGGCAGGGCGCGGGGCGTGGGGCGGTCTGGAGCCCAGCAGTTACCGCCCGCACCTACCCAGCCCGCCACACGGTGCCTCAGTGTTGCTACGGCTTTTGCATCGACCTGCTCATCAAGCTGGCACGGACCATGAACTTCACCTACGAGGTGCACCTGGTGGCAGATGGCAAGTTCGGCACACAGGAGCGGGTAGGCTGGACGGCGGGGGTGGGGACCAGCGTGAGAGGGGCCTGCAGGCGCGGTCGGAGTGGGTGGGGCATGGAGTAGGCGGGGCTTGCAGATGGTGGGGGGTCCTGGGGTGAGTGGGGCATGGAGTGAGCGGAGCCTGCGGGCTGGGTCCTGGCGTGGGTAAAGCATGGGGTGGGCGGGGCCTGAGGGCTGGGTGGGGCCTGACATGGGAGGGGCCTGACGTGGGGGTCGGAGTGGGTGGGGCACGGAGTGGGCAGGGCCTGCAGGCGGGGGTCTGGAGTGGGCGGGACGTGGAGTGGGCGGGGCCTGCTGGCTGTGGTGGGGCCCGCCCGGCGTGGGAGGGGTCTGCGAGCCAGGGCGGGGCTGGAGTGGGGTGGGGCCTGCGAGCTGGGTAGGGTCTTGGGGAGAAGACCCCCGGAGTGCTCTAGGGCGGCTTCAGTCGGGGGTACCTGTGGCGGGAGCTGGGAGGACGCTGCCTGCATGCCCGCCGGCTCTGTCGCCTCGCAGGTGAACAACAGCAACAAGAAGGAGTGGAATGGGATGATGGGCGAGCTGCTCAGCGGGCAGGCAGACATGATCGTGGCGCCGCTAACCATAAACAACGAGCGCGCGCAGTACATCGAGTTTTCCAAGCCCTTCAAGTACCAGGGCCTGACTATTCTGGTCAAGAAGGTGGGCAGGGGCCGGGTGGCGGGGTGGCGGCGGGGGGAGTCCCTGGAGGGCCCGGGCCGCGCTGACCTCGCGTCCCTCCGCAGGAGATTCCCCGGAGCACGCTGGACTCGTTCATGCAGCCGTTCCAGAGCACACTGTGGCTGCTGGTGGGGCTGTCGGTGCACGTGGTGGCCGTGATGCTGTACCTGCTGGACCGCTTCAGGTGAGCGCGACCCGGGGCTCAGACACCTCCATCTGCGGGGCGCGGAGCCGGCCAGGGGCGGGGCAGGGCCGCCTCTCCCGCCCTCTCTCCCGCCCGCCCTCTGCGCCCCGCAGCCCCTTCGGCCGGTTCAAGGTGAACAGCGAGGAGGAGGAGGAGGACGCACTGACCCTGTCCTCGGCCATGTGGTTCTCCTGGGGCGTCCTGCTCAACTCCGGCATCGGGGAAGGTAAGGCCCCGCCCGGCCCGCCTGGTCCCGCCTCGGCCCTCTAGGGTCTGACAGAGCCCCCCGCCCGCCCACAGGCGCCCCCAGAAGCTTCTCAGCGCGCATCCTGGGCATGGTGTGGGCCGGCTTTGCCATGATCATCGTGGCCTCCTACACCGCCAACCTGGCGGCCTTCCTGGTGCTGGACCGGCCGGAGGAGCGCATCACGGGCATCAACGACCCTCGGGTGAGGCCTGGCCGGGCTGGGGGAGGGAATGCGAGGTGAGCTGGGGTCGGCCTCGGTTAGGGGCCTGGGGAGCCGCCGCCGCGATCCCTGCCCTCCGACCCTGCAGCTGAGGAACCCCTCGGACAAGTTTATCTACGCCACGGTGAAGCAGAGCTCCGTGGATATCTACTTCCGGCGCCAGGTGGAGCTGAGCACCATGTACCGGCATATGGAGAAGCACAACTACGAGAGTGCGGCGGAGGCCATCCAGGCCGTGAGAGACAAGTGAGGCGCGGGCGGCCACCCTGGCGGGGCGGGACAGGTGCGGGGAGGGGGAGGGTGGCCTCCACCGGGCAGGAGAGCGTCCGGGCCGGGCACCCCGGAGGGCGCGGGCGTGGGGCTTCCAGGCTGGCAGGACCAAGGCCCCCGTGACTCCGCCTCTGCCGGCAGCAAGCTGCATGCCTTCATCTGGGACTCGGCGGTGCTGGAGTTCGAGGCCTCGCAGAAGTGCGACCTGGTGACGACTGGAGAGCTGTTTTTCCGCTCGGGCTTCGGCATAGGCATGCGCAAAGACAGCCCCTGGAAGCAGAACGTCTCCCTGTCCATCCTCAAGTGAGTGTCCGTGCGCCCGCGTCCCTCCTCCGCCCCTCTCCGCCAGAGGTGGACGCCCTCCCCAGTGCCAGACCACTCCGAGGCCACCACTGATTTCCCACCCAGGCCGGGCGCTGCCCACTCCACGCCGCACCCTACCCCGCAGGCCCCGCCCCGGCCCCGCCCCCAGCTTGCTCCTTCCCGTCCTGGGCCCCGCCTCACTGCAGGCTCACTTGTTCCCACCGCCAGGTCCCACGAGAATGGCTTCATGGAAGACCTGGACAAGACGTGGGTTCGGTATCAGGAATGTGACTCGCGCAGCAACGCCCCTGCGACCCTTACTTTTGAGAACATGGCCGGTGCGTTCTCCTTCATCCATTCTCGGGTGGGTTCTCCGTGGGCTGCGGCCTCCCTGGCCAGCAACTGAGGCTCTGGGTCCCGGCACACAGGGGTCTTCATGCTGGTAGCTGGGGGCATCGTGGCCGGGATCTTCCTGATTTTCATCGAGATTGCCTACAAGCGGCACAAGGATGCTCGCCGGAAGCAGATGCAGCTGGCCTTTGCCGCCGTTAACGTGTGGCGGAAGAACCTGCAGGTAGGGCAGGCCACCCTCCGAGGCCTGGTGCCCAGGGCCCGGCCTGGCCACGGCCCTCCTCCATCCCCGAAGGCCGTGGCACTGGCTCTGGCTCTGGTGGGCAGGACTGGAGCTAGGAGCCATGGCCAGGGGCAGTGGTGAGTGCTCCCAGGGCACGGGGGCAGCACCGGTGGGGGGCTGCCTGCAGGTGGCTGCCCACTGCAAAGCCGGGGCCGAGGGAGGCCACGCACCCTGCTCCAAGCCTCCGCCTGGCCCCTCTGTCTCCAGAGTCGCCCGCCGGTACCCATTCCATAGGAAGGCAATCAGGCAGGGTAAGACAGGGGCCCGCCTGTGTATGGCACGTGAGTCCAAGATGCATTTTGCCCTCCGCCGACCCAAGCCCCTTGACACCCTTCGGAGACCCCCCCCTTTCCTGCTATGTCCTTGTGCTCCGTGACTCTAATCCGAATTGGGCCAGGTCCGGTCCTGCCTGGTGCCCAGGTTGTATCCATGAGAATTTGCCACCAGCAAGGGCAGCCACGGCCCACCTGGGACAGGGTGGGCAGTGGGCCTGTACAGGCCTAAGGGCTCGTGGCCCGCGGTCGAGTTCCGGTTCACTCCGTCTCTTCTCTTTCTCTGGGTGCCGTCCTGGAGCCTGTGTCCTGAGATGAAGCCGACAGTGCGGCCAGGGCTGCTGGGGGATGGGGGTTGCTGGAGGCTCCACACCTCTCATCCGCCCGCTCTTGCTCTTGGCCCCCACAGGTCCCCTGGGGACCTGGCCGCTGCCAGCACTGGCGGGCACAGGCCACCTGGCCATCAGACCTGAGGCCAGAGTCCCGGGAGCTGCCTCTGTCACTCCAATTCCACCTCGACA
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CCTCGTGATCCGGCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACAGCACCTGGCGGGGAATCATGTCTAAGCCAAGACTGGAGAAAAAGTGGCCAAGAGAAGGGTCCAGCTCTCCAGGAGTCTTTTCTGAGCCCCCAGCCCCCACCCCCCCGGGGCTGCAGGCAGACGATGCTGACGGTGGCTGGGGAGGACGTGTCCTGAACACTTGGGCTCGTGAAGAAGCTCCAGAGAGGGGCAGTGGCCGGCGGCGCAGGGCGGGGGGTGTGAGGGGTGCGTCGGGGATTAAGAGGGGCGCCAGGGGAGGCTGGGAGCTGAGAAGAGACTGCCGCCCTGGGCAGCCTTAGGTCGGTGGTCCAGGCTGGGTCTCCCCTTCCCCCCCAGATTGTGACGATCCACCAGGAGCCCTTCGTGTACGTCAAGCCCACGCTGAGTGATGGGACATGCAAGGAGGAGTTCACAGTCAACGGCGACCCAGTCAAGAAGGTGATCTGCACCGGGCCCAACGACACGTCGCCGGGCAGCCGTGAGTGCGCGGGGCAGGGCGCGGGGCGCGGGGCAGGGCGCGGGGCGTGGGGCGGTCTGGAGCCCAGCAGTTACCGCCCGCACCTACCCAGCCCGCCACACGGTGCCTCAGTGTTGCTACGGCTTTTGCATCGACCTGCTCATCAAGCTGGCACGGACCATGAACTTCACCTACGAGGTGCACCTGGTGGCAGATGGCAAGTTCGGCACACAGGAGCGGGTAGGCTGGACGGCGGGGGTGGGGACCAGCGTGAGAGGGGCCTGCAGGCGCGGTCGGAGTGGGTGGGGCATGGAGTAGGCGGGGCTTGCAGATGGTGGGGGGTCCTGGGGTGAGTGGGGCATGGAGTGAGCGGAGCCTGCGGGCTGGGTCCTGGCGTGGGTAAAGCATGGGGTGGGCGGGGCCTGAGGGCTGGGTGGGGCCTGACATGGGAGGGGCCTGACGTGGGGGTCGGAGTGGGTGGGGCACGGAGTGGGCAGGGCCTGCAGGCGGGGGTCTGGAGTGGGCGGGACGTGGAGTGGGCGGGGCCTGCTGGCTGTGGTGGGGCCCGCCCGGCGTGGGAGGGGTCTGCGAGCCAGGGCGGGGCTGGAGTGGGGTGGGGCCTGCGAGCTGGGTAGGGTCTTGGGGAGAAGACCCCCGGAGTGCTCTAGGGCGGCTTCAGTCGGGGGTACCTGTGGCGGGAGCTGGGAGGACGCTGCCTGCATGCCCGCCGGCTCTGTCGCCTCGCAGGTGAACAACAGCAACAAGAAGGAGTGGAATGGGATGATGGGCGAGCTGCTCAGCGGGCAGGCAGACATGATCGTGGCGCCGCTAACCATAAACAACGAGCGCGCGCAGTACATCGAGTTTTCCAAGCCCTTCAAGTACCAGGGCCTGACTATTCTGGTCAAGAAGGTGGGCAGGGGCCGGGTGGCGGGGTGGCGGCGGGGGGAGTCCCTGGAGGGCCCGGGCCGCGCTGACCTCGCGTCCCTCCGCAGGAGATTCCCCGGAGCACGCTGGACTCGTTCATGCAGCCGTTCCAGAGCACACTGTGGCTGCTGGTGGGGCTGTCGGTGCACGTGGTGGCCGTGATGCTGTACCTGCTGGACCGCTTCAGGTGAGCGCGACCCGGGGCTCAGACACCTCCATCTGCGGGGCGCGGAGCCGGCCAGGGGCGGGGCAGGGCCGCCTCTCCCGCCCTCTCTCCCGCCCGCCCTCTGCGCCCCGCAGCCCCTTCGGCCGGTTCAAGGTGAACAGCGAGGAGGAGGAGGAGGACGCACTGACCCTGTCCTCGGCCATGTGGTTCTCCTGGGGCGTCCTGCTCAACTCCGGCATCGGGGAAGGTAAGGCCCCGCCCGGCCCGCCTGGTCCCGCCTCGGCCCTCTAGGGTCTGACAGAGCCCCCCGCCCGCCCACAGGCGCCCCCAGAAGCTTCTCAGCGCGCATCCTGGGCATGGTGTGGGCCGGCTTTGCCATGATCATCGTGGCCTCCTACACCGCCAACCTGGCGGCCTTCCTGGTGCTGGACCGGCCGGAGAAGCGCATCACGGGCATCAACGACCCTCGGGTGAGGCCTGGCCGGGCTGGGGGAGGGAATGCGAGGTGAGCTGGGGTCGGCCTCGGTTAGGGGCCTGGGGAGCCGCCGCCGCGATCCCTGCCCTCCGACCCTGCAGCTGAGGAACCCCTCGGACAAGTTTATCTACGCCACGGTGAAGCAGAGCTCCGTGGATATCTACTTCCGGCGCCAGGTGGAGCTGAGCACCATGTACCGGCATATGGAGAAGCACAACTACGAGAGTGCGGCGGAGGCCATCCAGGCCGTGAGAGACAAGTGAGGCGCGGGCGGCCACCCTGGCGGGGCGGGACAGGTGCGGGGAGGGGGAGGGTGGCCTCCACCGGGCAGGAGAGCGTCCGGGCCGGGCACCCCGGAGGGCGCGGGCGTGGGGCTTCCAGGCTGGCAGGACCAAGGCCCCCGTGACTCCGCCTCTGCCGGCAGCAAGCTGCATGCCTTCATCTGGGACTCGGCGGTGCTGGAGTTCGAGGCCTCGCAGAAGTGCGACCTGGTGACGACTGGAGAGCTGTTTTTCCGCTCGGGCTTCGGCATAGGCATGCGCAAAGACAGCCCCTGGAAGCAGAACGTCTCCCTGTCCATCCTCAAGTGAGTGTCCGTGCGCCCGCGTCCCTCCTCCGCCCCTCTCCGCCAGAGGTGGACGCCCTCCCCAGTGCCAGACCACTCCGAGGCCACCACTGATTTCCCACCCAGGCCGGGCGCTGCCCACTCCACGCCGCACCCTACCCCGCAGGCCCCGCCCCGGCCCCGCCCCCAGCTTGCTCCTTCCCGTCCTGGGCCCCGCCTCACTGCAGGCTCACTTGTTCCCACCGCCAGGTCCCACGAGAATGGCTTCATGGAAGACCTGGACAAGACGTGGGTTCGGTATCAGGAATGTGACTCGCGCAGCAACGCCCCTGCGACCCTTACTTTTGAGAACATGGCCGGTGCGTTCTCCTTCATCCATTCTCGGGTGGGTTCTCCGTGGGCTGCGGCCTCCCTGGCCAGCAACTGAGGCTCTGGGTCCCGGCACACAGGGGTCTTCATGCTGGTAGCTGGGGGCATCGTGGCCGGGATCTTCCTGATTTTCATCGAGATTGCCTACAAGCGGCACAAGGATGCTCGCCGGAAGCAGATGCAGCTGGCCTTTGCCGCCGTTAACGTGTGGCGGAAGAACCTGCAGGTAGGGCAGGCCACCCTCCGAGGCCTGGTGCCCAGGGCCCGGCCTGGCCACGGCCCTCCTCCATCCCCGAAGGCCGTGGCACTGGCTCTGGCTCTGGTGGGCAGGACTGGAGCTAGGAGCCATGGCCAGGGGCAGTGGTGAGTGCTCCCAGGGCACGGGGGCAGCACCGGTGGGGGGCTGCCTGCAGGTGGCTGCCCACTGCAAAGCCGGGGCCGAGGGAGGCCACGCACCCTGCTCCAAGCCTCCGCCTGGCCCCTCTGTCTCCAGAGTCGCCCGCCGGTACCCATTCCATAGGAAGGCAATCAGGCAGGGTAAGACAGGGGCCCGCCTGTGTATGGCACGTGAGTCCAAGATGCATTTTGCCCTCCGCCGACCCAAGCCCCTTGACACCCTTCGGAGACCCCCCCCTTTCCTGCTATGTCCTTGTGCTCCGTGACTCTAATCCGAATTGGGCCAGGTCCGGTCCTGCCTGGTGCCCAGGTTGTATCCATGAGAATTTGCCACCAGCAAGGGCAGCCACGGCCCACCTGGGACAGGGTGGGCAGTGGGCCTGTACAGGCCTAAGGGCTCGTGGCCCGCGGTCGAGTTCCGGTTCACTCCGTCTCTTCTCTTTCTCTGGGTGCCGTCCTGGAGCCTGTGTCCTGAGATGAAGCCGACAGTGCGGCCAGGGCTGCTGGGGGATGGGGGTTGCTGGAGGCTCCACACCTCTCATCCGCCCGCTCTTGCTCTTGGCCCCCACAGGTCCCCTGGGGACCTGGCCGCTGCCAGCACTGGCGGGCACAGGCCACCTGGCCATCAGACCTGAGGCCAGAGTCCCGGGAGCTGCCTCTGTCACTCCAATTCCACCTCGACA
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Task1_train_13603
|
A mutation found in GRIN1 (glutamate ionotropic receptor NMDA type subunit 1) on Chromosome 9 may be clinically relevant. Is it pathogenic or benign, and if the former, which disease is implicated?
|
Pathogenic; Intellectual disability, autosomal dominant 8
|
GGCGGGGCCTGAGGGCTGGGTGGGGCCTGACATGGGAGGGGCCTGACGTGGGGGTCGGAGTGGGTGGGGCACGGAGTGGGCAGGGCCTGCAGGCGGGGGTCTGGAGTGGGCGGGACGTGGAGTGGGCGGGGCCTGCTGGCTGTGGTGGGGCCCGCCCGGCGTGGGAGGGGTCTGCGAGCCAGGGCGGGGCTGGAGTGGGGTGGGGCCTGCGAGCTGGGTAGGGTCTTGGGGAGAAGACCCCCGGAGTGCTCTAGGGCGGCTTCAGTCGGGGGTACCTGTGGCGGGAGCTGGGAGGACGCTGCCTGCATGCCCGCCGGCTCTGTCGCCTCGCAGGTGAACAACAGCAACAAGAAGGAGTGGAATGGGATGATGGGCGAGCTGCTCAGCGGGCAGGCAGACATGATCGTGGCGCCGCTAACCATAAACAACGAGCGCGCGCAGTACATCGAGTTTTCCAAGCCCTTCAAGTACCAGGGCCTGACTATTCTGGTCAAGAAGGTGGGCAGGGGCCGGGTGGCGGGGTGGCGGCGGGGGGAGTCCCTGGAGGGCCCGGGCCGCGCTGACCTCGCGTCCCTCCGCAGGAGATTCCCCGGAGCACGCTGGACTCGTTCATGCAGCCGTTCCAGAGCACACTGTGGCTGCTGGTGGGGCTGTCGGTGCACGTGGTGGCCGTGATGCTGTACCTGCTGGACCGCTTCAGGTGAGCGCGACCCGGGGCTCAGACACCTCCATCTGCGGGGCGCGGAGCCGGCCAGGGGCGGGGCAGGGCCGCCTCTCCCGCCCTCTCTCCCGCCCGCCCTCTGCGCCCCGCAGCCCCTTCGGCCGGTTCAAGGTGAACAGCGAGGAGGAGGAGGAGGACGCACTGACCCTGTCCTCGGCCATGTGGTTCTCCTGGGGCGTCCTGCTCAACTCCGGCATCGGGGAAGGTAAGGCCCCGCCCGGCCCGCCTGGTCCCGCCTCGGCCCTCTAGGGTCTGACAGAGCCCCCCGCCCGCCCACAGGCGCCCCCAGAAGCTTCTCAGCGCGCATCCTGGGCATGGTGTGGGCCGGCTTTGCCATGATCATCGTGGCCTCCTACACCGCCAACCTGGCGGCCTTCCTGGTGCTGGACCGGCCGGAGGAGCGCATCACGGGCATCAACGACCCTCGGGTGAGGCCTGGCCGGGCTGGGGGAGGGAATGCGAGGTGAGCTGGGGTCGGCCTCGGTTAGGGGCCTGGGGAGCCGCCGCCGCGATCCCTGCCCTCCGACCCTGCAGCTGAGGAACCCCTCGGACAAGTTTATCTACGCCACGGTGAAGCAGAGCTCCGTGGATATCTACTTCCGGCGCCAGGTGGAGCTGAGCACCATGTACCGGCATATGGAGAAGCACAACTACGAGAGTGCGGCGGAGGCCATCCAGGCCGTGAGAGACAAGTGAGGCGCGGGCGGCCACCCTGGCGGGGCGGGACAGGTGCGGGGAGGGGGAGGGTGGCCTCCACCGGGCAGGAGAGCGTCCGGGCCGGGCACCCCGGAGGGCGCGGGCGTGGGGCTTCCAGGCTGGCAGGACCAAGGCCCCCGTGACTCCGCCTCTGCCGGCAGCAAGCTGCATGCCTTCATCTGGGACTCGGCGGTGCTGGAGTTCGAGGCCTCGCAGAAGTGCGACCTGGTGACGACTGGAGAGCTGTTTTTCCGCTCGGGCTTCGGCATAGGCATGCGCAAAGACAGCCCCTGGAAGCAGAACGTCTCCCTGTCCATCCTCAAGTGAGTGTCCGTGCGCCCGCGTCCCTCCTCCGCCCCTCTCCGCCAGAGGTGGACGCCCTCCCCAGTGCCAGACCACTCCGAGGCCACCACTGATTTCCCACCCAGGCCGGGCGCTGCCCACTCCACGCCGCACCCTACCCCGCAGGCCCCGCCCCGGCCCCGCCCCCAGCTTGCTCCTTCCCGTCCTGGGCCCCGCCTCACTGCAGGCTCACTTGTTCCCACCGCCAGGTCCCACGAGAATGGCTTCATGGAAGACCTGGACAAGACGTGGGTTCGGTATCAGGAATGTGACTCGCGCAGCAACGCCCCTGCGACCCTTACTTTTGAGAACATGGCCGGTGCGTTCTCCTTCATCCATTCTCGGGTGGGTTCTCCGTGGGCTGCGGCCTCCCTGGCCAGCAACTGAGGCTCTGGGTCCCGGCACACAGGGGTCTTCATGCTGGTAGCTGGGGGCATCGTGGCCGGGATCTTCCTGATTTTCATCGAGATTGCCTACAAGCGGCACAAGGATGCTCGCCGGAAGCAGATGCAGCTGGCCTTTGCCGCCGTTAACGTGTGGCGGAAGAACCTGCAGGTAGGGCAGGCCACCCTCCGAGGCCTGGTGCCCAGGGCCCGGCCTGGCCACGGCCCTCCTCCATCCCCGAAGGCCGTGGCACTGGCTCTGGCTCTGGTGGGCAGGACTGGAGCTAGGAGCCATGGCCAGGGGCAGTGGTGAGTGCTCCCAGGGCACGGGGGCAGCACCGGTGGGGGGCTGCCTGCAGGTGGCTGCCCACTGCAAAGCCGGGGCCGAGGGAGGCCACGCACCCTGCTCCAAGCCTCCGCCTGGCCCCTCTGTCTCCAGAGTCGCCCGCCGGTACCCATTCCATAGGAAGGCAATCAGGCAGGGTAAGACAGGGGCCCGCCTGTGTATGGCACGTGAGTCCAAGATGCATTTTGCCCTCCGCCGACCCAAGCCCCTTGACACCCTTCGGAGACCCCCCCCTTTCCTGCTATGTCCTTGTGCTCCGTGACTCTAATCCGAATTGGGCCAGGTCCGGTCCTGCCTGGTGCCCAGGTTGTATCCATGAGAATTTGCCACCAGCAAGGGCAGCCACGGCCCACCTGGGACAGGGTGGGCAGTGGGCCTGTACAGGCCTAAGGGCTCGTGGCCCGCGGTCGAGTTCCGGTTCACTCCGTCTCTTCTCTTTCTCTGGGTGCCGTCCTGGAGCCTGTGTCCTGAGATGAAGCCGACAGTGCGGCCAGGGCTGCTGGGGGATGGGGGTTGCTGGAGGCTCCACACCTCTCATCCGCCCGCTCTTGCTCTTGGCCCCCACAGGTCCCCTGGGGACCTGGCCGCTGCCAGCACTGGCGGGCACAGGCCACCTGGCCATCAGACCTGAGGCCAGAGTCCCGGGAGCTGCCTCTGTCACTCCAATTCCACCTCGACACCTGCCTCCAGCCCTCGGCCCCTTCCTGAATCTTGGTGTGTGCCCCTTGGGGGTCAGTGGCCTCCACGCAGACAGCTGGTGTGGCCTGAGGGGCAACTCCTCCAGTCCTCAGAGGACTCCTCCTCCTCGGGACGCCTGTAAGCCAGGGCCACCCAGGAGCCAGGGAGCCAGGCGGACCTCCCAGGAAGAGCCAGCCGAGAGCCCCCAAGCCCAGCCCCAGCACGAGCAAGGTCAGGCCCGAGACCCCGGGCAGGAGAAGAGGCCACCCTCGAACGTCCGCTGTCGGCCCGTCTGTCCAGCACAGGGAGGCAGGCAGGAGCGAGGGCCCAAGTGGCCGGCCAGGCTGGGCAGCGGCCCATGCAGGAGCAGGCGAGGGCAGGTGTGGCCACCACCCTAGCCATCTAATCACTTATACATATTCATTTTAGGATAGAAAGAGTGGTAGAGCAGAGCCTGACCCTAAAAAGAAAGCCACATTTAGGGCTATCACCTCCACCCTGGCTTCCAGCTTCAAGAGGCGTAGGTCCTCCAAAGACACGGTAAGGGGGAGAGCACCCCAGTCCCGCGTCCGACTCCACCTGCCCTGCCCTGCGTGTGTCTCCCGCCCCATCACCCCGCCCCGGACCCTGGGCTCCTGTGGCCCACTCTGCCCCTGTCTCCCTGTGGCGGCCGCTCTGCCCAGCCCGCCCATGCTGCTCTCTCTCACTCTCTGGACCTTTCTCCCCGGCCCTCCTGGGTCCTCGGCTTTCCCCGTGTGTCTCCGTTAGTCTGCCCGCCCACCTCCCCTGCCATGACCCACACGCCATCTTGAAGCCTGTCATCTCGTTGGTCAGTCAGTCAGCCACACCACCTCTCGGGGCCAGGTCTGGGGCCCTGGGAGCCCAGCGTGGCCCCATCCTGGACTCCTCAGCTGCCGGGAGGCCACACCA
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GGCGGGGCCTGAGGGCTGGGTGGGGCCTGACATGGGAGGGGCCTGACGTGGGGGTCGGAGTGGGTGGGGCACGGAGTGGGCAGGGCCTGCAGGCGGGGGTCTGGAGTGGGCGGGACGTGGAGTGGGCGGGGCCTGCTGGCTGTGGTGGGGCCCGCCCGGCGTGGGAGGGGTCTGCGAGCCAGGGCGGGGCTGGAGTGGGGTGGGGCCTGCGAGCTGGGTAGGGTCTTGGGGAGAAGACCCCCGGAGTGCTCTAGGGCGGCTTCAGTCGGGGGTACCTGTGGCGGGAGCTGGGAGGACGCTGCCTGCATGCCCGCCGGCTCTGTCGCCTCGCAGGTGAACAACAGCAACAAGAAGGAGTGGAATGGGATGATGGGCGAGCTGCTCAGCGGGCAGGCAGACATGATCGTGGCGCCGCTAACCATAAACAACGAGCGCGCGCAGTACATCGAGTTTTCCAAGCCCTTCAAGTACCAGGGCCTGACTATTCTGGTCAAGAAGGTGGGCAGGGGCCGGGTGGCGGGGTGGCGGCGGGGGGAGTCCCTGGAGGGCCCGGGCCGCGCTGACCTCGCGTCCCTCCGCAGGAGATTCCCCGGAGCACGCTGGACTCGTTCATGCAGCCGTTCCAGAGCACACTGTGGCTGCTGGTGGGGCTGTCGGTGCACGTGGTGGCCGTGATGCTGTACCTGCTGGACCGCTTCAGGTGAGCGCGACCCGGGGCTCAGACACCTCCATCTGCGGGGCGCGGAGCCGGCCAGGGGCGGGGCAGGGCCGCCTCTCCCGCCCTCTCTCCCGCCCGCCCTCTGCGCCCCGCAGCCCCTTCGGCCGGTTCAAGGTGAACAGCGAGGAGGAGGAGGAGGACGCACTGACCCTGTCCTCGGCCATGTGGTTCTCCTGGGGCGTCCTGCTCAACTCCGGCATCGGGGAAGGTAAGGCCCCGCCCGGCCCGCCTGGTCCCGCCTCGGCCCTCTAGGGTCTGACAGAGCCCCCCGCCCGCCCACAGGCGCCCCCAGAAGCTTCTCAGCGCGCATCCTGGGCATGGTGTGGGCCGGCTTTGCCATGATCATCGTGGCCTCCTACACCGCCAACCTGGCGGCCTTCCTGGTGCTGGACCGGCCGGAGGAGCGCATCACGGGCATCAACGACCCTCGGGTGAGGCCTGGCCGGGCTGGGGGAGGGAATGCGAGGTGAGCTGGGGTCGGCCTCGGTTAGGGGCCTGGGGAGCCGCCGCCGCGATCCCTGCCCTCCGACCCTGCAGCTGAGGAACCCCTCGGACAAGTTTATCTACGCCACGGTGAAGCAGAGCTCCGTGGATATCTACTTCCGGCGCCAGGTGGAGCTGAGCACCATGTACCGGCATATGGAGAAGCACAACTACGAGAGTGCGGCGGAGGCCATCCAGGCCGTGAGAGACAAGTGAGGCGCGGGCGGCCACCCTGGCGGGGCGGGACAGGTGCGGGGAGGGGGAGGGTGGCCTCCACCGGGCAGGAGAGCGTCCGGGCCGGGCACCCCGGAGGGCGCGGGCGTGGGGCTTCCAGGCTGGCAGGACCAAGGCCCCCGTGACTCCGCCTCTGCCGGCAGCAAGCTGCATGCCTTCATCTGGGACTCGGCGGTGCTGGAGTTCGAGGCCTCGCAGAAGTGCGACCTGGTGACGACTGGAGAGCTGTTTTTCCGCTCGGGCTTCGGCATAGGCATGCGCAAAGACAGCCCCTGGAAGCAGAACGTCTCCCTGTCCATCCTCAAGTGAGTGTCCGTGCGCCCGCGTCCCTCCTCCGCCCCTCTCCGCCAGAGGTGGACGCCCTCCCCAGTGCCAGACCACTCCGAGGCCACCACTGATTTCCCACCCAGGCCGGGCGCTGCCCACTCCACGCCGCACCCTACCCCGCAGGCCCCGCCCCGGCCCCGCCCCCAGCTTGCTCCTTCCCGTCCTGGGCCCCGCCTCACTGCAGGCTCACTTGTTCCCACCGCCAGGTCCCACGAGAATGGCTTCATGGAAGACCTGGACAAGACGTGGGTTCGGTATCAGGAATGTGACTCGCGCAGCAACGCCCTTGCGACCCTTACTTTTGAGAACATGGCCGGTGCGTTCTCCTTCATCCATTCTCGGGTGGGTTCTCCGTGGGCTGCGGCCTCCCTGGCCAGCAACTGAGGCTCTGGGTCCCGGCACACAGGGGTCTTCATGCTGGTAGCTGGGGGCATCGTGGCCGGGATCTTCCTGATTTTCATCGAGATTGCCTACAAGCGGCACAAGGATGCTCGCCGGAAGCAGATGCAGCTGGCCTTTGCCGCCGTTAACGTGTGGCGGAAGAACCTGCAGGTAGGGCAGGCCACCCTCCGAGGCCTGGTGCCCAGGGCCCGGCCTGGCCACGGCCCTCCTCCATCCCCGAAGGCCGTGGCACTGGCTCTGGCTCTGGTGGGCAGGACTGGAGCTAGGAGCCATGGCCAGGGGCAGTGGTGAGTGCTCCCAGGGCACGGGGGCAGCACCGGTGGGGGGCTGCCTGCAGGTGGCTGCCCACTGCAAAGCCGGGGCCGAGGGAGGCCACGCACCCTGCTCCAAGCCTCCGCCTGGCCCCTCTGTCTCCAGAGTCGCCCGCCGGTACCCATTCCATAGGAAGGCAATCAGGCAGGGTAAGACAGGGGCCCGCCTGTGTATGGCACGTGAGTCCAAGATGCATTTTGCCCTCCGCCGACCCAAGCCCCTTGACACCCTTCGGAGACCCCCCCCTTTCCTGCTATGTCCTTGTGCTCCGTGACTCTAATCCGAATTGGGCCAGGTCCGGTCCTGCCTGGTGCCCAGGTTGTATCCATGAGAATTTGCCACCAGCAAGGGCAGCCACGGCCCACCTGGGACAGGGTGGGCAGTGGGCCTGTACAGGCCTAAGGGCTCGTGGCCCGCGGTCGAGTTCCGGTTCACTCCGTCTCTTCTCTTTCTCTGGGTGCCGTCCTGGAGCCTGTGTCCTGAGATGAAGCCGACAGTGCGGCCAGGGCTGCTGGGGGATGGGGGTTGCTGGAGGCTCCACACCTCTCATCCGCCCGCTCTTGCTCTTGGCCCCCACAGGTCCCCTGGGGACCTGGCCGCTGCCAGCACTGGCGGGCACAGGCCACCTGGCCATCAGACCTGAGGCCAGAGTCCCGGGAGCTGCCTCTGTCACTCCAATTCCACCTCGACACCTGCCTCCAGCCCTCGGCCCCTTCCTGAATCTTGGTGTGTGCCCCTTGGGGGTCAGTGGCCTCCACGCAGACAGCTGGTGTGGCCTGAGGGGCAACTCCTCCAGTCCTCAGAGGACTCCTCCTCCTCGGGACGCCTGTAAGCCAGGGCCACCCAGGAGCCAGGGAGCCAGGCGGACCTCCCAGGAAGAGCCAGCCGAGAGCCCCCAAGCCCAGCCCCAGCACGAGCAAGGTCAGGCCCGAGACCCCGGGCAGGAGAAGAGGCCACCCTCGAACGTCCGCTGTCGGCCCGTCTGTCCAGCACAGGGAGGCAGGCAGGAGCGAGGGCCCAAGTGGCCGGCCAGGCTGGGCAGCGGCCCATGCAGGAGCAGGCGAGGGCAGGTGTGGCCACCACCCTAGCCATCTAATCACTTATACATATTCATTTTAGGATAGAAAGAGTGGTAGAGCAGAGCCTGACCCTAAAAAGAAAGCCACATTTAGGGCTATCACCTCCACCCTGGCTTCCAGCTTCAAGAGGCGTAGGTCCTCCAAAGACACGGTAAGGGGGAGAGCACCCCAGTCCCGCGTCCGACTCCACCTGCCCTGCCCTGCGTGTGTCTCCCGCCCCATCACCCCGCCCCGGACCCTGGGCTCCTGTGGCCCACTCTGCCCCTGTCTCCCTGTGGCGGCCGCTCTGCCCAGCCCGCCCATGCTGCTCTCTCTCACTCTCTGGACCTTTCTCCCCGGCCCTCCTGGGTCCTCGGCTTTCCCCGTGTGTCTCCGTTAGTCTGCCCGCCCACCTCCCCTGCCATGACCCACACGCCATCTTGAAGCCTGTCATCTCGTTGGTCAGTCAGTCAGCCACACCACCTCTCGGGGCCAGGTCTGGGGCCCTGGGAGCCCAGCGTGGCCCCATCCTGGACTCCTCAGCTGCCGGGAGGCCACACCA
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Task1_train_13604
|
Chromosome 9 houses a mutation in gene GRIN1 (glutamate ionotropic receptor NMDA type subunit 1). Classify its clinical impact — is it pathogenic or benign, and what disease does it lead to if any?
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Pathogenic; GRIN1-related disorder
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ACATGGGAGGGGCCTGACGTGGGGGTCGGAGTGGGTGGGGCACGGAGTGGGCAGGGCCTGCAGGCGGGGGTCTGGAGTGGGCGGGACGTGGAGTGGGCGGGGCCTGCTGGCTGTGGTGGGGCCCGCCCGGCGTGGGAGGGGTCTGCGAGCCAGGGCGGGGCTGGAGTGGGGTGGGGCCTGCGAGCTGGGTAGGGTCTTGGGGAGAAGACCCCCGGAGTGCTCTAGGGCGGCTTCAGTCGGGGGTACCTGTGGCGGGAGCTGGGAGGACGCTGCCTGCATGCCCGCCGGCTCTGTCGCCTCGCAGGTGAACAACAGCAACAAGAAGGAGTGGAATGGGATGATGGGCGAGCTGCTCAGCGGGCAGGCAGACATGATCGTGGCGCCGCTAACCATAAACAACGAGCGCGCGCAGTACATCGAGTTTTCCAAGCCCTTCAAGTACCAGGGCCTGACTATTCTGGTCAAGAAGGTGGGCAGGGGCCGGGTGGCGGGGTGGCGGCGGGGGGAGTCCCTGGAGGGCCCGGGCCGCGCTGACCTCGCGTCCCTCCGCAGGAGATTCCCCGGAGCACGCTGGACTCGTTCATGCAGCCGTTCCAGAGCACACTGTGGCTGCTGGTGGGGCTGTCGGTGCACGTGGTGGCCGTGATGCTGTACCTGCTGGACCGCTTCAGGTGAGCGCGACCCGGGGCTCAGACACCTCCATCTGCGGGGCGCGGAGCCGGCCAGGGGCGGGGCAGGGCCGCCTCTCCCGCCCTCTCTCCCGCCCGCCCTCTGCGCCCCGCAGCCCCTTCGGCCGGTTCAAGGTGAACAGCGAGGAGGAGGAGGAGGACGCACTGACCCTGTCCTCGGCCATGTGGTTCTCCTGGGGCGTCCTGCTCAACTCCGGCATCGGGGAAGGTAAGGCCCCGCCCGGCCCGCCTGGTCCCGCCTCGGCCCTCTAGGGTCTGACAGAGCCCCCCGCCCGCCCACAGGCGCCCCCAGAAGCTTCTCAGCGCGCATCCTGGGCATGGTGTGGGCCGGCTTTGCCATGATCATCGTGGCCTCCTACACCGCCAACCTGGCGGCCTTCCTGGTGCTGGACCGGCCGGAGGAGCGCATCACGGGCATCAACGACCCTCGGGTGAGGCCTGGCCGGGCTGGGGGAGGGAATGCGAGGTGAGCTGGGGTCGGCCTCGGTTAGGGGCCTGGGGAGCCGCCGCCGCGATCCCTGCCCTCCGACCCTGCAGCTGAGGAACCCCTCGGACAAGTTTATCTACGCCACGGTGAAGCAGAGCTCCGTGGATATCTACTTCCGGCGCCAGGTGGAGCTGAGCACCATGTACCGGCATATGGAGAAGCACAACTACGAGAGTGCGGCGGAGGCCATCCAGGCCGTGAGAGACAAGTGAGGCGCGGGCGGCCACCCTGGCGGGGCGGGACAGGTGCGGGGAGGGGGAGGGTGGCCTCCACCGGGCAGGAGAGCGTCCGGGCCGGGCACCCCGGAGGGCGCGGGCGTGGGGCTTCCAGGCTGGCAGGACCAAGGCCCCCGTGACTCCGCCTCTGCCGGCAGCAAGCTGCATGCCTTCATCTGGGACTCGGCGGTGCTGGAGTTCGAGGCCTCGCAGAAGTGCGACCTGGTGACGACTGGAGAGCTGTTTTTCCGCTCGGGCTTCGGCATAGGCATGCGCAAAGACAGCCCCTGGAAGCAGAACGTCTCCCTGTCCATCCTCAAGTGAGTGTCCGTGCGCCCGCGTCCCTCCTCCGCCCCTCTCCGCCAGAGGTGGACGCCCTCCCCAGTGCCAGACCACTCCGAGGCCACCACTGATTTCCCACCCAGGCCGGGCGCTGCCCACTCCACGCCGCACCCTACCCCGCAGGCCCCGCCCCGGCCCCGCCCCCAGCTTGCTCCTTCCCGTCCTGGGCCCCGCCTCACTGCAGGCTCACTTGTTCCCACCGCCAGGTCCCACGAGAATGGCTTCATGGAAGACCTGGACAAGACGTGGGTTCGGTATCAGGAATGTGACTCGCGCAGCAACGCCCCTGCGACCCTTACTTTTGAGAACATGGCCGGTGCGTTCTCCTTCATCCATTCTCGGGTGGGTTCTCCGTGGGCTGCGGCCTCCCTGGCCAGCAACTGAGGCTCTGGGTCCCGGCACACAGGGGTCTTCATGCTGGTAGCTGGGGGCATCGTGGCCGGGATCTTCCTGATTTTCATCGAGATTGCCTACAAGCGGCACAAGGATGCTCGCCGGAAGCAGATGCAGCTGGCCTTTGCCGCCGTTAACGTGTGGCGGAAGAACCTGCAGGTAGGGCAGGCCACCCTCCGAGGCCTGGTGCCCAGGGCCCGGCCTGGCCACGGCCCTCCTCCATCCCCGAAGGCCGTGGCACTGGCTCTGGCTCTGGTGGGCAGGACTGGAGCTAGGAGCCATGGCCAGGGGCAGTGGTGAGTGCTCCCAGGGCACGGGGGCAGCACCGGTGGGGGGCTGCCTGCAGGTGGCTGCCCACTGCAAAGCCGGGGCCGAGGGAGGCCACGCACCCTGCTCCAAGCCTCCGCCTGGCCCCTCTGTCTCCAGAGTCGCCCGCCGGTACCCATTCCATAGGAAGGCAATCAGGCAGGGTAAGACAGGGGCCCGCCTGTGTATGGCACGTGAGTCCAAGATGCATTTTGCCCTCCGCCGACCCAAGCCCCTTGACACCCTTCGGAGACCCCCCCCTTTCCTGCTATGTCCTTGTGCTCCGTGACTCTAATCCGAATTGGGCCAGGTCCGGTCCTGCCTGGTGCCCAGGTTGTATCCATGAGAATTTGCCACCAGCAAGGGCAGCCACGGCCCACCTGGGACAGGGTGGGCAGTGGGCCTGTACAGGCCTAAGGGCTCGTGGCCCGCGGTCGAGTTCCGGTTCACTCCGTCTCTTCTCTTTCTCTGGGTGCCGTCCTGGAGCCTGTGTCCTGAGATGAAGCCGACAGTGCGGCCAGGGCTGCTGGGGGATGGGGGTTGCTGGAGGCTCCACACCTCTCATCCGCCCGCTCTTGCTCTTGGCCCCCACAGGTCCCCTGGGGACCTGGCCGCTGCCAGCACTGGCGGGCACAGGCCACCTGGCCATCAGACCTGAGGCCAGAGTCCCGGGAGCTGCCTCTGTCACTCCAATTCCACCTCGACACCTGCCTCCAGCCCTCGGCCCCTTCCTGAATCTTGGTGTGTGCCCCTTGGGGGTCAGTGGCCTCCACGCAGACAGCTGGTGTGGCCTGAGGGGCAACTCCTCCAGTCCTCAGAGGACTCCTCCTCCTCGGGACGCCTGTAAGCCAGGGCCACCCAGGAGCCAGGGAGCCAGGCGGACCTCCCAGGAAGAGCCAGCCGAGAGCCCCCAAGCCCAGCCCCAGCACGAGCAAGGTCAGGCCCGAGACCCCGGGCAGGAGAAGAGGCCACCCTCGAACGTCCGCTGTCGGCCCGTCTGTCCAGCACAGGGAGGCAGGCAGGAGCGAGGGCCCAAGTGGCCGGCCAGGCTGGGCAGCGGCCCATGCAGGAGCAGGCGAGGGCAGGTGTGGCCACCACCCTAGCCATCTAATCACTTATACATATTCATTTTAGGATAGAAAGAGTGGTAGAGCAGAGCCTGACCCTAAAAAGAAAGCCACATTTAGGGCTATCACCTCCACCCTGGCTTCCAGCTTCAAGAGGCGTAGGTCCTCCAAAGACACGGTAAGGGGGAGAGCACCCCAGTCCCGCGTCCGACTCCACCTGCCCTGCCCTGCGTGTGTCTCCCGCCCCATCACCCCGCCCCGGACCCTGGGCTCCTGTGGCCCACTCTGCCCCTGTCTCCCTGTGGCGGCCGCTCTGCCCAGCCCGCCCATGCTGCTCTCTCTCACTCTCTGGACCTTTCTCCCCGGCCCTCCTGGGTCCTCGGCTTTCCCCGTGTGTCTCCGTTAGTCTGCCCGCCCACCTCCCCTGCCATGACCCACACGCCATCTTGAAGCCTGTCATCTCGTTGGTCAGTCAGTCAGCCACACCACCTCTCGGGGCCAGGTCTGGGGCCCTGGGAGCCCAGCGTGGCCCCATCCTGGACTCCTCAGCTGCCGGGAGGCCACACCACTTCTCTGTTATGTCCCCGTTTCTCTCGC
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ACATGGGAGGGGCCTGACGTGGGGGTCGGAGTGGGTGGGGCACGGAGTGGGCAGGGCCTGCAGGCGGGGGTCTGGAGTGGGCGGGACGTGGAGTGGGCGGGGCCTGCTGGCTGTGGTGGGGCCCGCCCGGCGTGGGAGGGGTCTGCGAGCCAGGGCGGGGCTGGAGTGGGGTGGGGCCTGCGAGCTGGGTAGGGTCTTGGGGAGAAGACCCCCGGAGTGCTCTAGGGCGGCTTCAGTCGGGGGTACCTGTGGCGGGAGCTGGGAGGACGCTGCCTGCATGCCCGCCGGCTCTGTCGCCTCGCAGGTGAACAACAGCAACAAGAAGGAGTGGAATGGGATGATGGGCGAGCTGCTCAGCGGGCAGGCAGACATGATCGTGGCGCCGCTAACCATAAACAACGAGCGCGCGCAGTACATCGAGTTTTCCAAGCCCTTCAAGTACCAGGGCCTGACTATTCTGGTCAAGAAGGTGGGCAGGGGCCGGGTGGCGGGGTGGCGGCGGGGGGAGTCCCTGGAGGGCCCGGGCCGCGCTGACCTCGCGTCCCTCCGCAGGAGATTCCCCGGAGCACGCTGGACTCGTTCATGCAGCCGTTCCAGAGCACACTGTGGCTGCTGGTGGGGCTGTCGGTGCACGTGGTGGCCGTGATGCTGTACCTGCTGGACCGCTTCAGGTGAGCGCGACCCGGGGCTCAGACACCTCCATCTGCGGGGCGCGGAGCCGGCCAGGGGCGGGGCAGGGCCGCCTCTCCCGCCCTCTCTCCCGCCCGCCCTCTGCGCCCCGCAGCCCCTTCGGCCGGTTCAAGGTGAACAGCGAGGAGGAGGAGGAGGACGCACTGACCCTGTCCTCGGCCATGTGGTTCTCCTGGGGCGTCCTGCTCAACTCCGGCATCGGGGAAGGTAAGGCCCCGCCCGGCCCGCCTGGTCCCGCCTCGGCCCTCTAGGGTCTGACAGAGCCCCCCGCCCGCCCACAGGCGCCCCCAGAAGCTTCTCAGCGCGCATCCTGGGCATGGTGTGGGCCGGCTTTGCCATGATCATCGTGGCCTCCTACACCGCCAACCTGGCGGCCTTCCTGGTGCTGGACCGGCCGGAGGAGCGCATCACGGGCATCAACGACCCTCGGGTGAGGCCTGGCCGGGCTGGGGGAGGGAATGCGAGGTGAGCTGGGGTCGGCCTCGGTTAGGGGCCTGGGGAGCCGCCGCCGCGATCCCTGCCCTCCGACCCTGCAGCTGAGGAACCCCTCGGACAAGTTTATCTACGCCACGGTGAAGCAGAGCTCCGTGGATATCTACTTCCGGCGCCAGGTGGAGCTGAGCACCATGTACCGGCATATGGAGAAGCACAACTACGAGAGTGCGGCGGAGGCCATCCAGGCCGTGAGAGACAAGTGAGGCGCGGGCGGCCACCCTGGCGGGGCGGGACAGGTGCGGGGAGGGGGAGGGTGGCCTCCACCGGGCAGGAGAGCGTCCGGGCCGGGCACCCCGGAGGGCGCGGGCGTGGGGCTTCCAGGCTGGCAGGACCAAGGCCCCCGTGACTCCGCCTCTGCCGGCAGCAAGCTGCATGCCTTCATCTGGGACTCGGCGGTGCTGGAGTTCGAGGCCTCGCAGAAGTGCGACCTGGTGACGACTGGAGAGCTGTTTTTCCGCTCGGGCTTCGGCATAGGCATGCGCAAAGACAGCCCCTGGAAGCAGAACGTCTCCCTGTCCATCCTCAAGTGAGTGTCCGTGCGCCCGCGTCCCTCCTCCGCCCCTCTCCGCCAGAGGTGGACGCCCTCCCCAGTGCCAGACCACTCCGAGGCCACCACTGATTTCCCACCCAGGCCGGGCGCTGCCCACTCCACGCCGCACCCTACCCCGCAGGCCCCGCCCCGGCCCCGCCCCCAGCTTGCTCCTTCCCGTCCTGGGCCCCGCCTCACTGCAGGCTCACTTGTTCCCACCGCCAGGTCCCACGAGAATGGCTTCATGGAAGACCTGGACAAGACGTGGGTTCGGTATCAGGAATGTGACTCGCGCAGCAACGCCCCTGCGACCCTTACTTTTGAGAACATGGCCAGTGCGTTCTCCTTCATCCATTCTCGGGTGGGTTCTCCGTGGGCTGCGGCCTCCCTGGCCAGCAACTGAGGCTCTGGGTCCCGGCACACAGGGGTCTTCATGCTGGTAGCTGGGGGCATCGTGGCCGGGATCTTCCTGATTTTCATCGAGATTGCCTACAAGCGGCACAAGGATGCTCGCCGGAAGCAGATGCAGCTGGCCTTTGCCGCCGTTAACGTGTGGCGGAAGAACCTGCAGGTAGGGCAGGCCACCCTCCGAGGCCTGGTGCCCAGGGCCCGGCCTGGCCACGGCCCTCCTCCATCCCCGAAGGCCGTGGCACTGGCTCTGGCTCTGGTGGGCAGGACTGGAGCTAGGAGCCATGGCCAGGGGCAGTGGTGAGTGCTCCCAGGGCACGGGGGCAGCACCGGTGGGGGGCTGCCTGCAGGTGGCTGCCCACTGCAAAGCCGGGGCCGAGGGAGGCCACGCACCCTGCTCCAAGCCTCCGCCTGGCCCCTCTGTCTCCAGAGTCGCCCGCCGGTACCCATTCCATAGGAAGGCAATCAGGCAGGGTAAGACAGGGGCCCGCCTGTGTATGGCACGTGAGTCCAAGATGCATTTTGCCCTCCGCCGACCCAAGCCCCTTGACACCCTTCGGAGACCCCCCCCTTTCCTGCTATGTCCTTGTGCTCCGTGACTCTAATCCGAATTGGGCCAGGTCCGGTCCTGCCTGGTGCCCAGGTTGTATCCATGAGAATTTGCCACCAGCAAGGGCAGCCACGGCCCACCTGGGACAGGGTGGGCAGTGGGCCTGTACAGGCCTAAGGGCTCGTGGCCCGCGGTCGAGTTCCGGTTCACTCCGTCTCTTCTCTTTCTCTGGGTGCCGTCCTGGAGCCTGTGTCCTGAGATGAAGCCGACAGTGCGGCCAGGGCTGCTGGGGGATGGGGGTTGCTGGAGGCTCCACACCTCTCATCCGCCCGCTCTTGCTCTTGGCCCCCACAGGTCCCCTGGGGACCTGGCCGCTGCCAGCACTGGCGGGCACAGGCCACCTGGCCATCAGACCTGAGGCCAGAGTCCCGGGAGCTGCCTCTGTCACTCCAATTCCACCTCGACACCTGCCTCCAGCCCTCGGCCCCTTCCTGAATCTTGGTGTGTGCCCCTTGGGGGTCAGTGGCCTCCACGCAGACAGCTGGTGTGGCCTGAGGGGCAACTCCTCCAGTCCTCAGAGGACTCCTCCTCCTCGGGACGCCTGTAAGCCAGGGCCACCCAGGAGCCAGGGAGCCAGGCGGACCTCCCAGGAAGAGCCAGCCGAGAGCCCCCAAGCCCAGCCCCAGCACGAGCAAGGTCAGGCCCGAGACCCCGGGCAGGAGAAGAGGCCACCCTCGAACGTCCGCTGTCGGCCCGTCTGTCCAGCACAGGGAGGCAGGCAGGAGCGAGGGCCCAAGTGGCCGGCCAGGCTGGGCAGCGGCCCATGCAGGAGCAGGCGAGGGCAGGTGTGGCCACCACCCTAGCCATCTAATCACTTATACATATTCATTTTAGGATAGAAAGAGTGGTAGAGCAGAGCCTGACCCTAAAAAGAAAGCCACATTTAGGGCTATCACCTCCACCCTGGCTTCCAGCTTCAAGAGGCGTAGGTCCTCCAAAGACACGGTAAGGGGGAGAGCACCCCAGTCCCGCGTCCGACTCCACCTGCCCTGCCCTGCGTGTGTCTCCCGCCCCATCACCCCGCCCCGGACCCTGGGCTCCTGTGGCCCACTCTGCCCCTGTCTCCCTGTGGCGGCCGCTCTGCCCAGCCCGCCCATGCTGCTCTCTCTCACTCTCTGGACCTTTCTCCCCGGCCCTCCTGGGTCCTCGGCTTTCCCCGTGTGTCTCCGTTAGTCTGCCCGCCCACCTCCCCTGCCATGACCCACACGCCATCTTGAAGCCTGTCATCTCGTTGGTCAGTCAGTCAGCCACACCACCTCTCGGGGCCAGGTCTGGGGCCCTGGGAGCCCAGCGTGGCCCCATCCTGGACTCCTCAGCTGCCGGGAGGCCACACCACTTCTCTGTTATGTCCCCGTTTCTCTCGC
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Task1_train_13605
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Consider this mutation in GRIN1 (glutamate ionotropic receptor NMDA type subunit 1) on Chromosome 9. Is this a benign change or a disease-causing variant?
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Pathogenic; Inborn genetic diseases
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ACATGGGAGGGGCCTGACGTGGGGGTCGGAGTGGGTGGGGCACGGAGTGGGCAGGGCCTGCAGGCGGGGGTCTGGAGTGGGCGGGACGTGGAGTGGGCGGGGCCTGCTGGCTGTGGTGGGGCCCGCCCGGCGTGGGAGGGGTCTGCGAGCCAGGGCGGGGCTGGAGTGGGGTGGGGCCTGCGAGCTGGGTAGGGTCTTGGGGAGAAGACCCCCGGAGTGCTCTAGGGCGGCTTCAGTCGGGGGTACCTGTGGCGGGAGCTGGGAGGACGCTGCCTGCATGCCCGCCGGCTCTGTCGCCTCGCAGGTGAACAACAGCAACAAGAAGGAGTGGAATGGGATGATGGGCGAGCTGCTCAGCGGGCAGGCAGACATGATCGTGGCGCCGCTAACCATAAACAACGAGCGCGCGCAGTACATCGAGTTTTCCAAGCCCTTCAAGTACCAGGGCCTGACTATTCTGGTCAAGAAGGTGGGCAGGGGCCGGGTGGCGGGGTGGCGGCGGGGGGAGTCCCTGGAGGGCCCGGGCCGCGCTGACCTCGCGTCCCTCCGCAGGAGATTCCCCGGAGCACGCTGGACTCGTTCATGCAGCCGTTCCAGAGCACACTGTGGCTGCTGGTGGGGCTGTCGGTGCACGTGGTGGCCGTGATGCTGTACCTGCTGGACCGCTTCAGGTGAGCGCGACCCGGGGCTCAGACACCTCCATCTGCGGGGCGCGGAGCCGGCCAGGGGCGGGGCAGGGCCGCCTCTCCCGCCCTCTCTCCCGCCCGCCCTCTGCGCCCCGCAGCCCCTTCGGCCGGTTCAAGGTGAACAGCGAGGAGGAGGAGGAGGACGCACTGACCCTGTCCTCGGCCATGTGGTTCTCCTGGGGCGTCCTGCTCAACTCCGGCATCGGGGAAGGTAAGGCCCCGCCCGGCCCGCCTGGTCCCGCCTCGGCCCTCTAGGGTCTGACAGAGCCCCCCGCCCGCCCACAGGCGCCCCCAGAAGCTTCTCAGCGCGCATCCTGGGCATGGTGTGGGCCGGCTTTGCCATGATCATCGTGGCCTCCTACACCGCCAACCTGGCGGCCTTCCTGGTGCTGGACCGGCCGGAGGAGCGCATCACGGGCATCAACGACCCTCGGGTGAGGCCTGGCCGGGCTGGGGGAGGGAATGCGAGGTGAGCTGGGGTCGGCCTCGGTTAGGGGCCTGGGGAGCCGCCGCCGCGATCCCTGCCCTCCGACCCTGCAGCTGAGGAACCCCTCGGACAAGTTTATCTACGCCACGGTGAAGCAGAGCTCCGTGGATATCTACTTCCGGCGCCAGGTGGAGCTGAGCACCATGTACCGGCATATGGAGAAGCACAACTACGAGAGTGCGGCGGAGGCCATCCAGGCCGTGAGAGACAAGTGAGGCGCGGGCGGCCACCCTGGCGGGGCGGGACAGGTGCGGGGAGGGGGAGGGTGGCCTCCACCGGGCAGGAGAGCGTCCGGGCCGGGCACCCCGGAGGGCGCGGGCGTGGGGCTTCCAGGCTGGCAGGACCAAGGCCCCCGTGACTCCGCCTCTGCCGGCAGCAAGCTGCATGCCTTCATCTGGGACTCGGCGGTGCTGGAGTTCGAGGCCTCGCAGAAGTGCGACCTGGTGACGACTGGAGAGCTGTTTTTCCGCTCGGGCTTCGGCATAGGCATGCGCAAAGACAGCCCCTGGAAGCAGAACGTCTCCCTGTCCATCCTCAAGTGAGTGTCCGTGCGCCCGCGTCCCTCCTCCGCCCCTCTCCGCCAGAGGTGGACGCCCTCCCCAGTGCCAGACCACTCCGAGGCCACCACTGATTTCCCACCCAGGCCGGGCGCTGCCCACTCCACGCCGCACCCTACCCCGCAGGCCCCGCCCCGGCCCCGCCCCCAGCTTGCTCCTTCCCGTCCTGGGCCCCGCCTCACTGCAGGCTCACTTGTTCCCACCGCCAGGTCCCACGAGAATGGCTTCATGGAAGACCTGGACAAGACGTGGGTTCGGTATCAGGAATGTGACTCGCGCAGCAACGCCCCTGCGACCCTTACTTTTGAGAACATGGCCGGTGCGTTCTCCTTCATCCATTCTCGGGTGGGTTCTCCGTGGGCTGCGGCCTCCCTGGCCAGCAACTGAGGCTCTGGGTCCCGGCACACAGGGGTCTTCATGCTGGTAGCTGGGGGCATCGTGGCCGGGATCTTCCTGATTTTCATCGAGATTGCCTACAAGCGGCACAAGGATGCTCGCCGGAAGCAGATGCAGCTGGCCTTTGCCGCCGTTAACGTGTGGCGGAAGAACCTGCAGGTAGGGCAGGCCACCCTCCGAGGCCTGGTGCCCAGGGCCCGGCCTGGCCACGGCCCTCCTCCATCCCCGAAGGCCGTGGCACTGGCTCTGGCTCTGGTGGGCAGGACTGGAGCTAGGAGCCATGGCCAGGGGCAGTGGTGAGTGCTCCCAGGGCACGGGGGCAGCACCGGTGGGGGGCTGCCTGCAGGTGGCTGCCCACTGCAAAGCCGGGGCCGAGGGAGGCCACGCACCCTGCTCCAAGCCTCCGCCTGGCCCCTCTGTCTCCAGAGTCGCCCGCCGGTACCCATTCCATAGGAAGGCAATCAGGCAGGGTAAGACAGGGGCCCGCCTGTGTATGGCACGTGAGTCCAAGATGCATTTTGCCCTCCGCCGACCCAAGCCCCTTGACACCCTTCGGAGACCCCCCCCTTTCCTGCTATGTCCTTGTGCTCCGTGACTCTAATCCGAATTGGGCCAGGTCCGGTCCTGCCTGGTGCCCAGGTTGTATCCATGAGAATTTGCCACCAGCAAGGGCAGCCACGGCCCACCTGGGACAGGGTGGGCAGTGGGCCTGTACAGGCCTAAGGGCTCGTGGCCCGCGGTCGAGTTCCGGTTCACTCCGTCTCTTCTCTTTCTCTGGGTGCCGTCCTGGAGCCTGTGTCCTGAGATGAAGCCGACAGTGCGGCCAGGGCTGCTGGGGGATGGGGGTTGCTGGAGGCTCCACACCTCTCATCCGCCCGCTCTTGCTCTTGGCCCCCACAGGTCCCCTGGGGACCTGGCCGCTGCCAGCACTGGCGGGCACAGGCCACCTGGCCATCAGACCTGAGGCCAGAGTCCCGGGAGCTGCCTCTGTCACTCCAATTCCACCTCGACACCTGCCTCCAGCCCTCGGCCCCTTCCTGAATCTTGGTGTGTGCCCCTTGGGGGTCAGTGGCCTCCACGCAGACAGCTGGTGTGGCCTGAGGGGCAACTCCTCCAGTCCTCAGAGGACTCCTCCTCCTCGGGACGCCTGTAAGCCAGGGCCACCCAGGAGCCAGGGAGCCAGGCGGACCTCCCAGGAAGAGCCAGCCGAGAGCCCCCAAGCCCAGCCCCAGCACGAGCAAGGTCAGGCCCGAGACCCCGGGCAGGAGAAGAGGCCACCCTCGAACGTCCGCTGTCGGCCCGTCTGTCCAGCACAGGGAGGCAGGCAGGAGCGAGGGCCCAAGTGGCCGGCCAGGCTGGGCAGCGGCCCATGCAGGAGCAGGCGAGGGCAGGTGTGGCCACCACCCTAGCCATCTAATCACTTATACATATTCATTTTAGGATAGAAAGAGTGGTAGAGCAGAGCCTGACCCTAAAAAGAAAGCCACATTTAGGGCTATCACCTCCACCCTGGCTTCCAGCTTCAAGAGGCGTAGGTCCTCCAAAGACACGGTAAGGGGGAGAGCACCCCAGTCCCGCGTCCGACTCCACCTGCCCTGCCCTGCGTGTGTCTCCCGCCCCATCACCCCGCCCCGGACCCTGGGCTCCTGTGGCCCACTCTGCCCCTGTCTCCCTGTGGCGGCCGCTCTGCCCAGCCCGCCCATGCTGCTCTCTCTCACTCTCTGGACCTTTCTCCCCGGCCCTCCTGGGTCCTCGGCTTTCCCCGTGTGTCTCCGTTAGTCTGCCCGCCCACCTCCCCTGCCATGACCCACACGCCATCTTGAAGCCTGTCATCTCGTTGGTCAGTCAGTCAGCCACACCACCTCTCGGGGCCAGGTCTGGGGCCCTGGGAGCCCAGCGTGGCCCCATCCTGGACTCCTCAGCTGCCGGGAGGCCACACCACTTCTCTGTTATGTCCCCGTTTCTCTCGC
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ACATGGGAGGGGCCTGACGTGGGGGTCGGAGTGGGTGGGGCACGGAGTGGGCAGGGCCTGCAGGCGGGGGTCTGGAGTGGGCGGGACGTGGAGTGGGCGGGGCCTGCTGGCTGTGGTGGGGCCCGCCCGGCGTGGGAGGGGTCTGCGAGCCAGGGCGGGGCTGGAGTGGGGTGGGGCCTGCGAGCTGGGTAGGGTCTTGGGGAGAAGACCCCCGGAGTGCTCTAGGGCGGCTTCAGTCGGGGGTACCTGTGGCGGGAGCTGGGAGGACGCTGCCTGCATGCCCGCCGGCTCTGTCGCCTCGCAGGTGAACAACAGCAACAAGAAGGAGTGGAATGGGATGATGGGCGAGCTGCTCAGCGGGCAGGCAGACATGATCGTGGCGCCGCTAACCATAAACAACGAGCGCGCGCAGTACATCGAGTTTTCCAAGCCCTTCAAGTACCAGGGCCTGACTATTCTGGTCAAGAAGGTGGGCAGGGGCCGGGTGGCGGGGTGGCGGCGGGGGGAGTCCCTGGAGGGCCCGGGCCGCGCTGACCTCGCGTCCCTCCGCAGGAGATTCCCCGGAGCACGCTGGACTCGTTCATGCAGCCGTTCCAGAGCACACTGTGGCTGCTGGTGGGGCTGTCGGTGCACGTGGTGGCCGTGATGCTGTACCTGCTGGACCGCTTCAGGTGAGCGCGACCCGGGGCTCAGACACCTCCATCTGCGGGGCGCGGAGCCGGCCAGGGGCGGGGCAGGGCCGCCTCTCCCGCCCTCTCTCCCGCCCGCCCTCTGCGCCCCGCAGCCCCTTCGGCCGGTTCAAGGTGAACAGCGAGGAGGAGGAGGAGGACGCACTGACCCTGTCCTCGGCCATGTGGTTCTCCTGGGGCGTCCTGCTCAACTCCGGCATCGGGGAAGGTAAGGCCCCGCCCGGCCCGCCTGGTCCCGCCTCGGCCCTCTAGGGTCTGACAGAGCCCCCCGCCCGCCCACAGGCGCCCCCAGAAGCTTCTCAGCGCGCATCCTGGGCATGGTGTGGGCCGGCTTTGCCATGATCATCGTGGCCTCCTACACCGCCAACCTGGCGGCCTTCCTGGTGCTGGACCGGCCGGAGGAGCGCATCACGGGCATCAACGACCCTCGGGTGAGGCCTGGCCGGGCTGGGGGAGGGAATGCGAGGTGAGCTGGGGTCGGCCTCGGTTAGGGGCCTGGGGAGCCGCCGCCGCGATCCCTGCCCTCCGACCCTGCAGCTGAGGAACCCCTCGGACAAGTTTATCTACGCCACGGTGAAGCAGAGCTCCGTGGATATCTACTTCCGGCGCCAGGTGGAGCTGAGCACCATGTACCGGCATATGGAGAAGCACAACTACGAGAGTGCGGCGGAGGCCATCCAGGCCGTGAGAGACAAGTGAGGCGCGGGCGGCCACCCTGGCGGGGCGGGACAGGTGCGGGGAGGGGGAGGGTGGCCTCCACCGGGCAGGAGAGCGTCCGGGCCGGGCACCCCGGAGGGCGCGGGCGTGGGGCTTCCAGGCTGGCAGGACCAAGGCCCCCGTGACTCCGCCTCTGCCGGCAGCAAGCTGCATGCCTTCATCTGGGACTCGGCGGTGCTGGAGTTCGAGGCCTCGCAGAAGTGCGACCTGGTGACGACTGGAGAGCTGTTTTTCCGCTCGGGCTTCGGCATAGGCATGCGCAAAGACAGCCCCTGGAAGCAGAACGTCTCCCTGTCCATCCTCAAGTGAGTGTCCGTGCGCCCGCGTCCCTCCTCCGCCCCTCTCCGCCAGAGGTGGACGCCCTCCCCAGTGCCAGACCACTCCGAGGCCACCACTGATTTCCCACCCAGGCCGGGCGCTGCCCACTCCACGCCGCACCCTACCCCGCAGGCCCCGCCCCGGCCCCGCCCCCAGCTTGCTCCTTCCCGTCCTGGGCCCCGCCTCACTGCAGGCTCACTTGTTCCCACCGCCAGGTCCCACGAGAATGGCTTCATGGAAGACCTGGACAAGACGTGGGTTCGGTATCAGGAATGTGACTCGCGCAGCAACGCCCCTGCGACCCTTACTTTTGAGAACATGGCCAGTGCGTTCTCCTTCATCCATTCTCGGGTGGGTTCTCCGTGGGCTGCGGCCTCCCTGGCCAGCAACTGAGGCTCTGGGTCCCGGCACACAGGGGTCTTCATGCTGGTAGCTGGGGGCATCGTGGCCGGGATCTTCCTGATTTTCATCGAGATTGCCTACAAGCGGCACAAGGATGCTCGCCGGAAGCAGATGCAGCTGGCCTTTGCCGCCGTTAACGTGTGGCGGAAGAACCTGCAGGTAGGGCAGGCCACCCTCCGAGGCCTGGTGCCCAGGGCCCGGCCTGGCCACGGCCCTCCTCCATCCCCGAAGGCCGTGGCACTGGCTCTGGCTCTGGTGGGCAGGACTGGAGCTAGGAGCCATGGCCAGGGGCAGTGGTGAGTGCTCCCAGGGCACGGGGGCAGCACCGGTGGGGGGCTGCCTGCAGGTGGCTGCCCACTGCAAAGCCGGGGCCGAGGGAGGCCACGCACCCTGCTCCAAGCCTCCGCCTGGCCCCTCTGTCTCCAGAGTCGCCCGCCGGTACCCATTCCATAGGAAGGCAATCAGGCAGGGTAAGACAGGGGCCCGCCTGTGTATGGCACGTGAGTCCAAGATGCATTTTGCCCTCCGCCGACCCAAGCCCCTTGACACCCTTCGGAGACCCCCCCCTTTCCTGCTATGTCCTTGTGCTCCGTGACTCTAATCCGAATTGGGCCAGGTCCGGTCCTGCCTGGTGCCCAGGTTGTATCCATGAGAATTTGCCACCAGCAAGGGCAGCCACGGCCCACCTGGGACAGGGTGGGCAGTGGGCCTGTACAGGCCTAAGGGCTCGTGGCCCGCGGTCGAGTTCCGGTTCACTCCGTCTCTTCTCTTTCTCTGGGTGCCGTCCTGGAGCCTGTGTCCTGAGATGAAGCCGACAGTGCGGCCAGGGCTGCTGGGGGATGGGGGTTGCTGGAGGCTCCACACCTCTCATCCGCCCGCTCTTGCTCTTGGCCCCCACAGGTCCCCTGGGGACCTGGCCGCTGCCAGCACTGGCGGGCACAGGCCACCTGGCCATCAGACCTGAGGCCAGAGTCCCGGGAGCTGCCTCTGTCACTCCAATTCCACCTCGACACCTGCCTCCAGCCCTCGGCCCCTTCCTGAATCTTGGTGTGTGCCCCTTGGGGGTCAGTGGCCTCCACGCAGACAGCTGGTGTGGCCTGAGGGGCAACTCCTCCAGTCCTCAGAGGACTCCTCCTCCTCGGGACGCCTGTAAGCCAGGGCCACCCAGGAGCCAGGGAGCCAGGCGGACCTCCCAGGAAGAGCCAGCCGAGAGCCCCCAAGCCCAGCCCCAGCACGAGCAAGGTCAGGCCCGAGACCCCGGGCAGGAGAAGAGGCCACCCTCGAACGTCCGCTGTCGGCCCGTCTGTCCAGCACAGGGAGGCAGGCAGGAGCGAGGGCCCAAGTGGCCGGCCAGGCTGGGCAGCGGCCCATGCAGGAGCAGGCGAGGGCAGGTGTGGCCACCACCCTAGCCATCTAATCACTTATACATATTCATTTTAGGATAGAAAGAGTGGTAGAGCAGAGCCTGACCCTAAAAAGAAAGCCACATTTAGGGCTATCACCTCCACCCTGGCTTCCAGCTTCAAGAGGCGTAGGTCCTCCAAAGACACGGTAAGGGGGAGAGCACCCCAGTCCCGCGTCCGACTCCACCTGCCCTGCCCTGCGTGTGTCTCCCGCCCCATCACCCCGCCCCGGACCCTGGGCTCCTGTGGCCCACTCTGCCCCTGTCTCCCTGTGGCGGCCGCTCTGCCCAGCCCGCCCATGCTGCTCTCTCTCACTCTCTGGACCTTTCTCCCCGGCCCTCCTGGGTCCTCGGCTTTCCCCGTGTGTCTCCGTTAGTCTGCCCGCCCACCTCCCCTGCCATGACCCACACGCCATCTTGAAGCCTGTCATCTCGTTGGTCAGTCAGTCAGCCACACCACCTCTCGGGGCCAGGTCTGGGGCCCTGGGAGCCCAGCGTGGCCCCATCCTGGACTCCTCAGCTGCCGGGAGGCCACACCACTTCTCTGTTATGTCCCCGTTTCTCTCGC
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Task1_train_13606
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Given this variant in gene GRIN1 (glutamate ionotropic receptor NMDA type subunit 1) on Chromosome 9, classify it as benign or pathogenic. Include the disorder it may cause if applicable.
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Pathogenic; Intellectual disability, autosomal dominant 8
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ACATGGGAGGGGCCTGACGTGGGGGTCGGAGTGGGTGGGGCACGGAGTGGGCAGGGCCTGCAGGCGGGGGTCTGGAGTGGGCGGGACGTGGAGTGGGCGGGGCCTGCTGGCTGTGGTGGGGCCCGCCCGGCGTGGGAGGGGTCTGCGAGCCAGGGCGGGGCTGGAGTGGGGTGGGGCCTGCGAGCTGGGTAGGGTCTTGGGGAGAAGACCCCCGGAGTGCTCTAGGGCGGCTTCAGTCGGGGGTACCTGTGGCGGGAGCTGGGAGGACGCTGCCTGCATGCCCGCCGGCTCTGTCGCCTCGCAGGTGAACAACAGCAACAAGAAGGAGTGGAATGGGATGATGGGCGAGCTGCTCAGCGGGCAGGCAGACATGATCGTGGCGCCGCTAACCATAAACAACGAGCGCGCGCAGTACATCGAGTTTTCCAAGCCCTTCAAGTACCAGGGCCTGACTATTCTGGTCAAGAAGGTGGGCAGGGGCCGGGTGGCGGGGTGGCGGCGGGGGGAGTCCCTGGAGGGCCCGGGCCGCGCTGACCTCGCGTCCCTCCGCAGGAGATTCCCCGGAGCACGCTGGACTCGTTCATGCAGCCGTTCCAGAGCACACTGTGGCTGCTGGTGGGGCTGTCGGTGCACGTGGTGGCCGTGATGCTGTACCTGCTGGACCGCTTCAGGTGAGCGCGACCCGGGGCTCAGACACCTCCATCTGCGGGGCGCGGAGCCGGCCAGGGGCGGGGCAGGGCCGCCTCTCCCGCCCTCTCTCCCGCCCGCCCTCTGCGCCCCGCAGCCCCTTCGGCCGGTTCAAGGTGAACAGCGAGGAGGAGGAGGAGGACGCACTGACCCTGTCCTCGGCCATGTGGTTCTCCTGGGGCGTCCTGCTCAACTCCGGCATCGGGGAAGGTAAGGCCCCGCCCGGCCCGCCTGGTCCCGCCTCGGCCCTCTAGGGTCTGACAGAGCCCCCCGCCCGCCCACAGGCGCCCCCAGAAGCTTCTCAGCGCGCATCCTGGGCATGGTGTGGGCCGGCTTTGCCATGATCATCGTGGCCTCCTACACCGCCAACCTGGCGGCCTTCCTGGTGCTGGACCGGCCGGAGGAGCGCATCACGGGCATCAACGACCCTCGGGTGAGGCCTGGCCGGGCTGGGGGAGGGAATGCGAGGTGAGCTGGGGTCGGCCTCGGTTAGGGGCCTGGGGAGCCGCCGCCGCGATCCCTGCCCTCCGACCCTGCAGCTGAGGAACCCCTCGGACAAGTTTATCTACGCCACGGTGAAGCAGAGCTCCGTGGATATCTACTTCCGGCGCCAGGTGGAGCTGAGCACCATGTACCGGCATATGGAGAAGCACAACTACGAGAGTGCGGCGGAGGCCATCCAGGCCGTGAGAGACAAGTGAGGCGCGGGCGGCCACCCTGGCGGGGCGGGACAGGTGCGGGGAGGGGGAGGGTGGCCTCCACCGGGCAGGAGAGCGTCCGGGCCGGGCACCCCGGAGGGCGCGGGCGTGGGGCTTCCAGGCTGGCAGGACCAAGGCCCCCGTGACTCCGCCTCTGCCGGCAGCAAGCTGCATGCCTTCATCTGGGACTCGGCGGTGCTGGAGTTCGAGGCCTCGCAGAAGTGCGACCTGGTGACGACTGGAGAGCTGTTTTTCCGCTCGGGCTTCGGCATAGGCATGCGCAAAGACAGCCCCTGGAAGCAGAACGTCTCCCTGTCCATCCTCAAGTGAGTGTCCGTGCGCCCGCGTCCCTCCTCCGCCCCTCTCCGCCAGAGGTGGACGCCCTCCCCAGTGCCAGACCACTCCGAGGCCACCACTGATTTCCCACCCAGGCCGGGCGCTGCCCACTCCACGCCGCACCCTACCCCGCAGGCCCCGCCCCGGCCCCGCCCCCAGCTTGCTCCTTCCCGTCCTGGGCCCCGCCTCACTGCAGGCTCACTTGTTCCCACCGCCAGGTCCCACGAGAATGGCTTCATGGAAGACCTGGACAAGACGTGGGTTCGGTATCAGGAATGTGACTCGCGCAGCAACGCCCCTGCGACCCTTACTTTTGAGAACATGGCCGGTGCGTTCTCCTTCATCCATTCTCGGGTGGGTTCTCCGTGGGCTGCGGCCTCCCTGGCCAGCAACTGAGGCTCTGGGTCCCGGCACACAGGGGTCTTCATGCTGGTAGCTGGGGGCATCGTGGCCGGGATCTTCCTGATTTTCATCGAGATTGCCTACAAGCGGCACAAGGATGCTCGCCGGAAGCAGATGCAGCTGGCCTTTGCCGCCGTTAACGTGTGGCGGAAGAACCTGCAGGTAGGGCAGGCCACCCTCCGAGGCCTGGTGCCCAGGGCCCGGCCTGGCCACGGCCCTCCTCCATCCCCGAAGGCCGTGGCACTGGCTCTGGCTCTGGTGGGCAGGACTGGAGCTAGGAGCCATGGCCAGGGGCAGTGGTGAGTGCTCCCAGGGCACGGGGGCAGCACCGGTGGGGGGCTGCCTGCAGGTGGCTGCCCACTGCAAAGCCGGGGCCGAGGGAGGCCACGCACCCTGCTCCAAGCCTCCGCCTGGCCCCTCTGTCTCCAGAGTCGCCCGCCGGTACCCATTCCATAGGAAGGCAATCAGGCAGGGTAAGACAGGGGCCCGCCTGTGTATGGCACGTGAGTCCAAGATGCATTTTGCCCTCCGCCGACCCAAGCCCCTTGACACCCTTCGGAGACCCCCCCCTTTCCTGCTATGTCCTTGTGCTCCGTGACTCTAATCCGAATTGGGCCAGGTCCGGTCCTGCCTGGTGCCCAGGTTGTATCCATGAGAATTTGCCACCAGCAAGGGCAGCCACGGCCCACCTGGGACAGGGTGGGCAGTGGGCCTGTACAGGCCTAAGGGCTCGTGGCCCGCGGTCGAGTTCCGGTTCACTCCGTCTCTTCTCTTTCTCTGGGTGCCGTCCTGGAGCCTGTGTCCTGAGATGAAGCCGACAGTGCGGCCAGGGCTGCTGGGGGATGGGGGTTGCTGGAGGCTCCACACCTCTCATCCGCCCGCTCTTGCTCTTGGCCCCCACAGGTCCCCTGGGGACCTGGCCGCTGCCAGCACTGGCGGGCACAGGCCACCTGGCCATCAGACCTGAGGCCAGAGTCCCGGGAGCTGCCTCTGTCACTCCAATTCCACCTCGACACCTGCCTCCAGCCCTCGGCCCCTTCCTGAATCTTGGTGTGTGCCCCTTGGGGGTCAGTGGCCTCCACGCAGACAGCTGGTGTGGCCTGAGGGGCAACTCCTCCAGTCCTCAGAGGACTCCTCCTCCTCGGGACGCCTGTAAGCCAGGGCCACCCAGGAGCCAGGGAGCCAGGCGGACCTCCCAGGAAGAGCCAGCCGAGAGCCCCCAAGCCCAGCCCCAGCACGAGCAAGGTCAGGCCCGAGACCCCGGGCAGGAGAAGAGGCCACCCTCGAACGTCCGCTGTCGGCCCGTCTGTCCAGCACAGGGAGGCAGGCAGGAGCGAGGGCCCAAGTGGCCGGCCAGGCTGGGCAGCGGCCCATGCAGGAGCAGGCGAGGGCAGGTGTGGCCACCACCCTAGCCATCTAATCACTTATACATATTCATTTTAGGATAGAAAGAGTGGTAGAGCAGAGCCTGACCCTAAAAAGAAAGCCACATTTAGGGCTATCACCTCCACCCTGGCTTCCAGCTTCAAGAGGCGTAGGTCCTCCAAAGACACGGTAAGGGGGAGAGCACCCCAGTCCCGCGTCCGACTCCACCTGCCCTGCCCTGCGTGTGTCTCCCGCCCCATCACCCCGCCCCGGACCCTGGGCTCCTGTGGCCCACTCTGCCCCTGTCTCCCTGTGGCGGCCGCTCTGCCCAGCCCGCCCATGCTGCTCTCTCTCACTCTCTGGACCTTTCTCCCCGGCCCTCCTGGGTCCTCGGCTTTCCCCGTGTGTCTCCGTTAGTCTGCCCGCCCACCTCCCCTGCCATGACCCACACGCCATCTTGAAGCCTGTCATCTCGTTGGTCAGTCAGTCAGCCACACCACCTCTCGGGGCCAGGTCTGGGGCCCTGGGAGCCCAGCGTGGCCCCATCCTGGACTCCTCAGCTGCCGGGAGGCCACACCACTTCTCTGTTATGTCCCCGTTTCTCTCGC
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ACATGGGAGGGGCCTGACGTGGGGGTCGGAGTGGGTGGGGCACGGAGTGGGCAGGGCCTGCAGGCGGGGGTCTGGAGTGGGCGGGACGTGGAGTGGGCGGGGCCTGCTGGCTGTGGTGGGGCCCGCCCGGCGTGGGAGGGGTCTGCGAGCCAGGGCGGGGCTGGAGTGGGGTGGGGCCTGCGAGCTGGGTAGGGTCTTGGGGAGAAGACCCCCGGAGTGCTCTAGGGCGGCTTCAGTCGGGGGTACCTGTGGCGGGAGCTGGGAGGACGCTGCCTGCATGCCCGCCGGCTCTGTCGCCTCGCAGGTGAACAACAGCAACAAGAAGGAGTGGAATGGGATGATGGGCGAGCTGCTCAGCGGGCAGGCAGACATGATCGTGGCGCCGCTAACCATAAACAACGAGCGCGCGCAGTACATCGAGTTTTCCAAGCCCTTCAAGTACCAGGGCCTGACTATTCTGGTCAAGAAGGTGGGCAGGGGCCGGGTGGCGGGGTGGCGGCGGGGGGAGTCCCTGGAGGGCCCGGGCCGCGCTGACCTCGCGTCCCTCCGCAGGAGATTCCCCGGAGCACGCTGGACTCGTTCATGCAGCCGTTCCAGAGCACACTGTGGCTGCTGGTGGGGCTGTCGGTGCACGTGGTGGCCGTGATGCTGTACCTGCTGGACCGCTTCAGGTGAGCGCGACCCGGGGCTCAGACACCTCCATCTGCGGGGCGCGGAGCCGGCCAGGGGCGGGGCAGGGCCGCCTCTCCCGCCCTCTCTCCCGCCCGCCCTCTGCGCCCCGCAGCCCCTTCGGCCGGTTCAAGGTGAACAGCGAGGAGGAGGAGGAGGACGCACTGACCCTGTCCTCGGCCATGTGGTTCTCCTGGGGCGTCCTGCTCAACTCCGGCATCGGGGAAGGTAAGGCCCCGCCCGGCCCGCCTGGTCCCGCCTCGGCCCTCTAGGGTCTGACAGAGCCCCCCGCCCGCCCACAGGCGCCCCCAGAAGCTTCTCAGCGCGCATCCTGGGCATGGTGTGGGCCGGCTTTGCCATGATCATCGTGGCCTCCTACACCGCCAACCTGGCGGCCTTCCTGGTGCTGGACCGGCCGGAGGAGCGCATCACGGGCATCAACGACCCTCGGGTGAGGCCTGGCCGGGCTGGGGGAGGGAATGCGAGGTGAGCTGGGGTCGGCCTCGGTTAGGGGCCTGGGGAGCCGCCGCCGCGATCCCTGCCCTCCGACCCTGCAGCTGAGGAACCCCTCGGACAAGTTTATCTACGCCACGGTGAAGCAGAGCTCCGTGGATATCTACTTCCGGCGCCAGGTGGAGCTGAGCACCATGTACCGGCATATGGAGAAGCACAACTACGAGAGTGCGGCGGAGGCCATCCAGGCCGTGAGAGACAAGTGAGGCGCGGGCGGCCACCCTGGCGGGGCGGGACAGGTGCGGGGAGGGGGAGGGTGGCCTCCACCGGGCAGGAGAGCGTCCGGGCCGGGCACCCCGGAGGGCGCGGGCGTGGGGCTTCCAGGCTGGCAGGACCAAGGCCCCCGTGACTCCGCCTCTGCCGGCAGCAAGCTGCATGCCTTCATCTGGGACTCGGCGGTGCTGGAGTTCGAGGCCTCGCAGAAGTGCGACCTGGTGACGACTGGAGAGCTGTTTTTCCGCTCGGGCTTCGGCATAGGCATGCGCAAAGACAGCCCCTGGAAGCAGAACGTCTCCCTGTCCATCCTCAAGTGAGTGTCCGTGCGCCCGCGTCCCTCCTCCGCCCCTCTCCGCCAGAGGTGGACGCCCTCCCCAGTGCCAGACCACTCCGAGGCCACCACTGATTTCCCACCCAGGCCGGGCGCTGCCCACTCCACGCCGCACCCTACCCCGCAGGCCCCGCCCCGGCCCCGCCCCCAGCTTGCTCCTTCCCGTCCTGGGCCCCGCCTCACTGCAGGCTCACTTGTTCCCACCGCCAGGTCCCACGAGAATGGCTTCATGGAAGACCTGGACAAGACGTGGGTTCGGTATCAGGAATGTGACTCGCGCAGCAACGCCCCTGCGACCCTTACTTTTGAGAACATGGCCAGTGCGTTCTCCTTCATCCATTCTCGGGTGGGTTCTCCGTGGGCTGCGGCCTCCCTGGCCAGCAACTGAGGCTCTGGGTCCCGGCACACAGGGGTCTTCATGCTGGTAGCTGGGGGCATCGTGGCCGGGATCTTCCTGATTTTCATCGAGATTGCCTACAAGCGGCACAAGGATGCTCGCCGGAAGCAGATGCAGCTGGCCTTTGCCGCCGTTAACGTGTGGCGGAAGAACCTGCAGGTAGGGCAGGCCACCCTCCGAGGCCTGGTGCCCAGGGCCCGGCCTGGCCACGGCCCTCCTCCATCCCCGAAGGCCGTGGCACTGGCTCTGGCTCTGGTGGGCAGGACTGGAGCTAGGAGCCATGGCCAGGGGCAGTGGTGAGTGCTCCCAGGGCACGGGGGCAGCACCGGTGGGGGGCTGCCTGCAGGTGGCTGCCCACTGCAAAGCCGGGGCCGAGGGAGGCCACGCACCCTGCTCCAAGCCTCCGCCTGGCCCCTCTGTCTCCAGAGTCGCCCGCCGGTACCCATTCCATAGGAAGGCAATCAGGCAGGGTAAGACAGGGGCCCGCCTGTGTATGGCACGTGAGTCCAAGATGCATTTTGCCCTCCGCCGACCCAAGCCCCTTGACACCCTTCGGAGACCCCCCCCTTTCCTGCTATGTCCTTGTGCTCCGTGACTCTAATCCGAATTGGGCCAGGTCCGGTCCTGCCTGGTGCCCAGGTTGTATCCATGAGAATTTGCCACCAGCAAGGGCAGCCACGGCCCACCTGGGACAGGGTGGGCAGTGGGCCTGTACAGGCCTAAGGGCTCGTGGCCCGCGGTCGAGTTCCGGTTCACTCCGTCTCTTCTCTTTCTCTGGGTGCCGTCCTGGAGCCTGTGTCCTGAGATGAAGCCGACAGTGCGGCCAGGGCTGCTGGGGGATGGGGGTTGCTGGAGGCTCCACACCTCTCATCCGCCCGCTCTTGCTCTTGGCCCCCACAGGTCCCCTGGGGACCTGGCCGCTGCCAGCACTGGCGGGCACAGGCCACCTGGCCATCAGACCTGAGGCCAGAGTCCCGGGAGCTGCCTCTGTCACTCCAATTCCACCTCGACACCTGCCTCCAGCCCTCGGCCCCTTCCTGAATCTTGGTGTGTGCCCCTTGGGGGTCAGTGGCCTCCACGCAGACAGCTGGTGTGGCCTGAGGGGCAACTCCTCCAGTCCTCAGAGGACTCCTCCTCCTCGGGACGCCTGTAAGCCAGGGCCACCCAGGAGCCAGGGAGCCAGGCGGACCTCCCAGGAAGAGCCAGCCGAGAGCCCCCAAGCCCAGCCCCAGCACGAGCAAGGTCAGGCCCGAGACCCCGGGCAGGAGAAGAGGCCACCCTCGAACGTCCGCTGTCGGCCCGTCTGTCCAGCACAGGGAGGCAGGCAGGAGCGAGGGCCCAAGTGGCCGGCCAGGCTGGGCAGCGGCCCATGCAGGAGCAGGCGAGGGCAGGTGTGGCCACCACCCTAGCCATCTAATCACTTATACATATTCATTTTAGGATAGAAAGAGTGGTAGAGCAGAGCCTGACCCTAAAAAGAAAGCCACATTTAGGGCTATCACCTCCACCCTGGCTTCCAGCTTCAAGAGGCGTAGGTCCTCCAAAGACACGGTAAGGGGGAGAGCACCCCAGTCCCGCGTCCGACTCCACCTGCCCTGCCCTGCGTGTGTCTCCCGCCCCATCACCCCGCCCCGGACCCTGGGCTCCTGTGGCCCACTCTGCCCCTGTCTCCCTGTGGCGGCCGCTCTGCCCAGCCCGCCCATGCTGCTCTCTCTCACTCTCTGGACCTTTCTCCCCGGCCCTCCTGGGTCCTCGGCTTTCCCCGTGTGTCTCCGTTAGTCTGCCCGCCCACCTCCCCTGCCATGACCCACACGCCATCTTGAAGCCTGTCATCTCGTTGGTCAGTCAGTCAGCCACACCACCTCTCGGGGCCAGGTCTGGGGCCCTGGGAGCCCAGCGTGGCCCCATCCTGGACTCCTCAGCTGCCGGGAGGCCACACCACTTCTCTGTTATGTCCCCGTTTCTCTCGC
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Task1_train_13607
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This genomic variant is located on Chromosome 9, within the GRIN1 (glutamate ionotropic receptor NMDA type subunit 1) gene. Can you determine its pathogenicity and name any linked disease?
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Pathogenic; Intellectual disability, autosomal dominant 8
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ACATGGGAGGGGCCTGACGTGGGGGTCGGAGTGGGTGGGGCACGGAGTGGGCAGGGCCTGCAGGCGGGGGTCTGGAGTGGGCGGGACGTGGAGTGGGCGGGGCCTGCTGGCTGTGGTGGGGCCCGCCCGGCGTGGGAGGGGTCTGCGAGCCAGGGCGGGGCTGGAGTGGGGTGGGGCCTGCGAGCTGGGTAGGGTCTTGGGGAGAAGACCCCCGGAGTGCTCTAGGGCGGCTTCAGTCGGGGGTACCTGTGGCGGGAGCTGGGAGGACGCTGCCTGCATGCCCGCCGGCTCTGTCGCCTCGCAGGTGAACAACAGCAACAAGAAGGAGTGGAATGGGATGATGGGCGAGCTGCTCAGCGGGCAGGCAGACATGATCGTGGCGCCGCTAACCATAAACAACGAGCGCGCGCAGTACATCGAGTTTTCCAAGCCCTTCAAGTACCAGGGCCTGACTATTCTGGTCAAGAAGGTGGGCAGGGGCCGGGTGGCGGGGTGGCGGCGGGGGGAGTCCCTGGAGGGCCCGGGCCGCGCTGACCTCGCGTCCCTCCGCAGGAGATTCCCCGGAGCACGCTGGACTCGTTCATGCAGCCGTTCCAGAGCACACTGTGGCTGCTGGTGGGGCTGTCGGTGCACGTGGTGGCCGTGATGCTGTACCTGCTGGACCGCTTCAGGTGAGCGCGACCCGGGGCTCAGACACCTCCATCTGCGGGGCGCGGAGCCGGCCAGGGGCGGGGCAGGGCCGCCTCTCCCGCCCTCTCTCCCGCCCGCCCTCTGCGCCCCGCAGCCCCTTCGGCCGGTTCAAGGTGAACAGCGAGGAGGAGGAGGAGGACGCACTGACCCTGTCCTCGGCCATGTGGTTCTCCTGGGGCGTCCTGCTCAACTCCGGCATCGGGGAAGGTAAGGCCCCGCCCGGCCCGCCTGGTCCCGCCTCGGCCCTCTAGGGTCTGACAGAGCCCCCCGCCCGCCCACAGGCGCCCCCAGAAGCTTCTCAGCGCGCATCCTGGGCATGGTGTGGGCCGGCTTTGCCATGATCATCGTGGCCTCCTACACCGCCAACCTGGCGGCCTTCCTGGTGCTGGACCGGCCGGAGGAGCGCATCACGGGCATCAACGACCCTCGGGTGAGGCCTGGCCGGGCTGGGGGAGGGAATGCGAGGTGAGCTGGGGTCGGCCTCGGTTAGGGGCCTGGGGAGCCGCCGCCGCGATCCCTGCCCTCCGACCCTGCAGCTGAGGAACCCCTCGGACAAGTTTATCTACGCCACGGTGAAGCAGAGCTCCGTGGATATCTACTTCCGGCGCCAGGTGGAGCTGAGCACCATGTACCGGCATATGGAGAAGCACAACTACGAGAGTGCGGCGGAGGCCATCCAGGCCGTGAGAGACAAGTGAGGCGCGGGCGGCCACCCTGGCGGGGCGGGACAGGTGCGGGGAGGGGGAGGGTGGCCTCCACCGGGCAGGAGAGCGTCCGGGCCGGGCACCCCGGAGGGCGCGGGCGTGGGGCTTCCAGGCTGGCAGGACCAAGGCCCCCGTGACTCCGCCTCTGCCGGCAGCAAGCTGCATGCCTTCATCTGGGACTCGGCGGTGCTGGAGTTCGAGGCCTCGCAGAAGTGCGACCTGGTGACGACTGGAGAGCTGTTTTTCCGCTCGGGCTTCGGCATAGGCATGCGCAAAGACAGCCCCTGGAAGCAGAACGTCTCCCTGTCCATCCTCAAGTGAGTGTCCGTGCGCCCGCGTCCCTCCTCCGCCCCTCTCCGCCAGAGGTGGACGCCCTCCCCAGTGCCAGACCACTCCGAGGCCACCACTGATTTCCCACCCAGGCCGGGCGCTGCCCACTCCACGCCGCACCCTACCCCGCAGGCCCCGCCCCGGCCCCGCCCCCAGCTTGCTCCTTCCCGTCCTGGGCCCCGCCTCACTGCAGGCTCACTTGTTCCCACCGCCAGGTCCCACGAGAATGGCTTCATGGAAGACCTGGACAAGACGTGGGTTCGGTATCAGGAATGTGACTCGCGCAGCAACGCCCCTGCGACCCTTACTTTTGAGAACATGGCCGGTGCGTTCTCCTTCATCCATTCTCGGGTGGGTTCTCCGTGGGCTGCGGCCTCCCTGGCCAGCAACTGAGGCTCTGGGTCCCGGCACACAGGGGTCTTCATGCTGGTAGCTGGGGGCATCGTGGCCGGGATCTTCCTGATTTTCATCGAGATTGCCTACAAGCGGCACAAGGATGCTCGCCGGAAGCAGATGCAGCTGGCCTTTGCCGCCGTTAACGTGTGGCGGAAGAACCTGCAGGTAGGGCAGGCCACCCTCCGAGGCCTGGTGCCCAGGGCCCGGCCTGGCCACGGCCCTCCTCCATCCCCGAAGGCCGTGGCACTGGCTCTGGCTCTGGTGGGCAGGACTGGAGCTAGGAGCCATGGCCAGGGGCAGTGGTGAGTGCTCCCAGGGCACGGGGGCAGCACCGGTGGGGGGCTGCCTGCAGGTGGCTGCCCACTGCAAAGCCGGGGCCGAGGGAGGCCACGCACCCTGCTCCAAGCCTCCGCCTGGCCCCTCTGTCTCCAGAGTCGCCCGCCGGTACCCATTCCATAGGAAGGCAATCAGGCAGGGTAAGACAGGGGCCCGCCTGTGTATGGCACGTGAGTCCAAGATGCATTTTGCCCTCCGCCGACCCAAGCCCCTTGACACCCTTCGGAGACCCCCCCCTTTCCTGCTATGTCCTTGTGCTCCGTGACTCTAATCCGAATTGGGCCAGGTCCGGTCCTGCCTGGTGCCCAGGTTGTATCCATGAGAATTTGCCACCAGCAAGGGCAGCCACGGCCCACCTGGGACAGGGTGGGCAGTGGGCCTGTACAGGCCTAAGGGCTCGTGGCCCGCGGTCGAGTTCCGGTTCACTCCGTCTCTTCTCTTTCTCTGGGTGCCGTCCTGGAGCCTGTGTCCTGAGATGAAGCCGACAGTGCGGCCAGGGCTGCTGGGGGATGGGGGTTGCTGGAGGCTCCACACCTCTCATCCGCCCGCTCTTGCTCTTGGCCCCCACAGGTCCCCTGGGGACCTGGCCGCTGCCAGCACTGGCGGGCACAGGCCACCTGGCCATCAGACCTGAGGCCAGAGTCCCGGGAGCTGCCTCTGTCACTCCAATTCCACCTCGACACCTGCCTCCAGCCCTCGGCCCCTTCCTGAATCTTGGTGTGTGCCCCTTGGGGGTCAGTGGCCTCCACGCAGACAGCTGGTGTGGCCTGAGGGGCAACTCCTCCAGTCCTCAGAGGACTCCTCCTCCTCGGGACGCCTGTAAGCCAGGGCCACCCAGGAGCCAGGGAGCCAGGCGGACCTCCCAGGAAGAGCCAGCCGAGAGCCCCCAAGCCCAGCCCCAGCACGAGCAAGGTCAGGCCCGAGACCCCGGGCAGGAGAAGAGGCCACCCTCGAACGTCCGCTGTCGGCCCGTCTGTCCAGCACAGGGAGGCAGGCAGGAGCGAGGGCCCAAGTGGCCGGCCAGGCTGGGCAGCGGCCCATGCAGGAGCAGGCGAGGGCAGGTGTGGCCACCACCCTAGCCATCTAATCACTTATACATATTCATTTTAGGATAGAAAGAGTGGTAGAGCAGAGCCTGACCCTAAAAAGAAAGCCACATTTAGGGCTATCACCTCCACCCTGGCTTCCAGCTTCAAGAGGCGTAGGTCCTCCAAAGACACGGTAAGGGGGAGAGCACCCCAGTCCCGCGTCCGACTCCACCTGCCCTGCCCTGCGTGTGTCTCCCGCCCCATCACCCCGCCCCGGACCCTGGGCTCCTGTGGCCCACTCTGCCCCTGTCTCCCTGTGGCGGCCGCTCTGCCCAGCCCGCCCATGCTGCTCTCTCTCACTCTCTGGACCTTTCTCCCCGGCCCTCCTGGGTCCTCGGCTTTCCCCGTGTGTCTCCGTTAGTCTGCCCGCCCACCTCCCCTGCCATGACCCACACGCCATCTTGAAGCCTGTCATCTCGTTGGTCAGTCAGTCAGCCACACCACCTCTCGGGGCCAGGTCTGGGGCCCTGGGAGCCCAGCGTGGCCCCATCCTGGACTCCTCAGCTGCCGGGAGGCCACACCACTTCTCTGTTATGTCCCCGTTTCTCTCGC
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ACATGGGAGGGGCCTGACGTGGGGGTCGGAGTGGGTGGGGCACGGAGTGGGCAGGGCCTGCAGGCGGGGGTCTGGAGTGGGCGGGACGTGGAGTGGGCGGGGCCTGCTGGCTGTGGTGGGGCCCGCCCGGCGTGGGAGGGGTCTGCGAGCCAGGGCGGGGCTGGAGTGGGGTGGGGCCTGCGAGCTGGGTAGGGTCTTGGGGAGAAGACCCCCGGAGTGCTCTAGGGCGGCTTCAGTCGGGGGTACCTGTGGCGGGAGCTGGGAGGACGCTGCCTGCATGCCCGCCGGCTCTGTCGCCTCGCAGGTGAACAACAGCAACAAGAAGGAGTGGAATGGGATGATGGGCGAGCTGCTCAGCGGGCAGGCAGACATGATCGTGGCGCCGCTAACCATAAACAACGAGCGCGCGCAGTACATCGAGTTTTCCAAGCCCTTCAAGTACCAGGGCCTGACTATTCTGGTCAAGAAGGTGGGCAGGGGCCGGGTGGCGGGGTGGCGGCGGGGGGAGTCCCTGGAGGGCCCGGGCCGCGCTGACCTCGCGTCCCTCCGCAGGAGATTCCCCGGAGCACGCTGGACTCGTTCATGCAGCCGTTCCAGAGCACACTGTGGCTGCTGGTGGGGCTGTCGGTGCACGTGGTGGCCGTGATGCTGTACCTGCTGGACCGCTTCAGGTGAGCGCGACCCGGGGCTCAGACACCTCCATCTGCGGGGCGCGGAGCCGGCCAGGGGCGGGGCAGGGCCGCCTCTCCCGCCCTCTCTCCCGCCCGCCCTCTGCGCCCCGCAGCCCCTTCGGCCGGTTCAAGGTGAACAGCGAGGAGGAGGAGGAGGACGCACTGACCCTGTCCTCGGCCATGTGGTTCTCCTGGGGCGTCCTGCTCAACTCCGGCATCGGGGAAGGTAAGGCCCCGCCCGGCCCGCCTGGTCCCGCCTCGGCCCTCTAGGGTCTGACAGAGCCCCCCGCCCGCCCACAGGCGCCCCCAGAAGCTTCTCAGCGCGCATCCTGGGCATGGTGTGGGCCGGCTTTGCCATGATCATCGTGGCCTCCTACACCGCCAACCTGGCGGCCTTCCTGGTGCTGGACCGGCCGGAGGAGCGCATCACGGGCATCAACGACCCTCGGGTGAGGCCTGGCCGGGCTGGGGGAGGGAATGCGAGGTGAGCTGGGGTCGGCCTCGGTTAGGGGCCTGGGGAGCCGCCGCCGCGATCCCTGCCCTCCGACCCTGCAGCTGAGGAACCCCTCGGACAAGTTTATCTACGCCACGGTGAAGCAGAGCTCCGTGGATATCTACTTCCGGCGCCAGGTGGAGCTGAGCACCATGTACCGGCATATGGAGAAGCACAACTACGAGAGTGCGGCGGAGGCCATCCAGGCCGTGAGAGACAAGTGAGGCGCGGGCGGCCACCCTGGCGGGGCGGGACAGGTGCGGGGAGGGGGAGGGTGGCCTCCACCGGGCAGGAGAGCGTCCGGGCCGGGCACCCCGGAGGGCGCGGGCGTGGGGCTTCCAGGCTGGCAGGACCAAGGCCCCCGTGACTCCGCCTCTGCCGGCAGCAAGCTGCATGCCTTCATCTGGGACTCGGCGGTGCTGGAGTTCGAGGCCTCGCAGAAGTGCGACCTGGTGACGACTGGAGAGCTGTTTTTCCGCTCGGGCTTCGGCATAGGCATGCGCAAAGACAGCCCCTGGAAGCAGAACGTCTCCCTGTCCATCCTCAAGTGAGTGTCCGTGCGCCCGCGTCCCTCCTCCGCCCCTCTCCGCCAGAGGTGGACGCCCTCCCCAGTGCCAGACCACTCCGAGGCCACCACTGATTTCCCACCCAGGCCGGGCGCTGCCCACTCCACGCCGCACCCTACCCCGCAGGCCCCGCCCCGGCCCCGCCCCCAGCTTGCTCCTTCCCGTCCTGGGCCCCGCCTCACTGCAGGCTCACTTGTTCCCACCGCCAGGTCCCACGAGAATGGCTTCATGGAAGACCTGGACAAGACGTGGGTTCGGTATCAGGAATGTGACTCGCGCAGCAACGCCCCTGCGACCCTTACTTTTGAGAACATGGCCCGTGCGTTCTCCTTCATCCATTCTCGGGTGGGTTCTCCGTGGGCTGCGGCCTCCCTGGCCAGCAACTGAGGCTCTGGGTCCCGGCACACAGGGGTCTTCATGCTGGTAGCTGGGGGCATCGTGGCCGGGATCTTCCTGATTTTCATCGAGATTGCCTACAAGCGGCACAAGGATGCTCGCCGGAAGCAGATGCAGCTGGCCTTTGCCGCCGTTAACGTGTGGCGGAAGAACCTGCAGGTAGGGCAGGCCACCCTCCGAGGCCTGGTGCCCAGGGCCCGGCCTGGCCACGGCCCTCCTCCATCCCCGAAGGCCGTGGCACTGGCTCTGGCTCTGGTGGGCAGGACTGGAGCTAGGAGCCATGGCCAGGGGCAGTGGTGAGTGCTCCCAGGGCACGGGGGCAGCACCGGTGGGGGGCTGCCTGCAGGTGGCTGCCCACTGCAAAGCCGGGGCCGAGGGAGGCCACGCACCCTGCTCCAAGCCTCCGCCTGGCCCCTCTGTCTCCAGAGTCGCCCGCCGGTACCCATTCCATAGGAAGGCAATCAGGCAGGGTAAGACAGGGGCCCGCCTGTGTATGGCACGTGAGTCCAAGATGCATTTTGCCCTCCGCCGACCCAAGCCCCTTGACACCCTTCGGAGACCCCCCCCTTTCCTGCTATGTCCTTGTGCTCCGTGACTCTAATCCGAATTGGGCCAGGTCCGGTCCTGCCTGGTGCCCAGGTTGTATCCATGAGAATTTGCCACCAGCAAGGGCAGCCACGGCCCACCTGGGACAGGGTGGGCAGTGGGCCTGTACAGGCCTAAGGGCTCGTGGCCCGCGGTCGAGTTCCGGTTCACTCCGTCTCTTCTCTTTCTCTGGGTGCCGTCCTGGAGCCTGTGTCCTGAGATGAAGCCGACAGTGCGGCCAGGGCTGCTGGGGGATGGGGGTTGCTGGAGGCTCCACACCTCTCATCCGCCCGCTCTTGCTCTTGGCCCCCACAGGTCCCCTGGGGACCTGGCCGCTGCCAGCACTGGCGGGCACAGGCCACCTGGCCATCAGACCTGAGGCCAGAGTCCCGGGAGCTGCCTCTGTCACTCCAATTCCACCTCGACACCTGCCTCCAGCCCTCGGCCCCTTCCTGAATCTTGGTGTGTGCCCCTTGGGGGTCAGTGGCCTCCACGCAGACAGCTGGTGTGGCCTGAGGGGCAACTCCTCCAGTCCTCAGAGGACTCCTCCTCCTCGGGACGCCTGTAAGCCAGGGCCACCCAGGAGCCAGGGAGCCAGGCGGACCTCCCAGGAAGAGCCAGCCGAGAGCCCCCAAGCCCAGCCCCAGCACGAGCAAGGTCAGGCCCGAGACCCCGGGCAGGAGAAGAGGCCACCCTCGAACGTCCGCTGTCGGCCCGTCTGTCCAGCACAGGGAGGCAGGCAGGAGCGAGGGCCCAAGTGGCCGGCCAGGCTGGGCAGCGGCCCATGCAGGAGCAGGCGAGGGCAGGTGTGGCCACCACCCTAGCCATCTAATCACTTATACATATTCATTTTAGGATAGAAAGAGTGGTAGAGCAGAGCCTGACCCTAAAAAGAAAGCCACATTTAGGGCTATCACCTCCACCCTGGCTTCCAGCTTCAAGAGGCGTAGGTCCTCCAAAGACACGGTAAGGGGGAGAGCACCCCAGTCCCGCGTCCGACTCCACCTGCCCTGCCCTGCGTGTGTCTCCCGCCCCATCACCCCGCCCCGGACCCTGGGCTCCTGTGGCCCACTCTGCCCCTGTCTCCCTGTGGCGGCCGCTCTGCCCAGCCCGCCCATGCTGCTCTCTCTCACTCTCTGGACCTTTCTCCCCGGCCCTCCTGGGTCCTCGGCTTTCCCCGTGTGTCTCCGTTAGTCTGCCCGCCCACCTCCCCTGCCATGACCCACACGCCATCTTGAAGCCTGTCATCTCGTTGGTCAGTCAGTCAGCCACACCACCTCTCGGGGCCAGGTCTGGGGCCCTGGGAGCCCAGCGTGGCCCCATCCTGGACTCCTCAGCTGCCGGGAGGCCACACCACTTCTCTGTTATGTCCCCGTTTCTCTCGC
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Task1_train_13608
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An alteration has been detected in GRIN1 (glutamate ionotropic receptor NMDA type subunit 1) on Chromosome 9. Is it pathogenic, and if so, what disease is involved?
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Pathogenic; Intellectual disability, autosomal dominant 8
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GCGGGGCCTGCTGGCTGTGGTGGGGCCCGCCCGGCGTGGGAGGGGTCTGCGAGCCAGGGCGGGGCTGGAGTGGGGTGGGGCCTGCGAGCTGGGTAGGGTCTTGGGGAGAAGACCCCCGGAGTGCTCTAGGGCGGCTTCAGTCGGGGGTACCTGTGGCGGGAGCTGGGAGGACGCTGCCTGCATGCCCGCCGGCTCTGTCGCCTCGCAGGTGAACAACAGCAACAAGAAGGAGTGGAATGGGATGATGGGCGAGCTGCTCAGCGGGCAGGCAGACATGATCGTGGCGCCGCTAACCATAAACAACGAGCGCGCGCAGTACATCGAGTTTTCCAAGCCCTTCAAGTACCAGGGCCTGACTATTCTGGTCAAGAAGGTGGGCAGGGGCCGGGTGGCGGGGTGGCGGCGGGGGGAGTCCCTGGAGGGCCCGGGCCGCGCTGACCTCGCGTCCCTCCGCAGGAGATTCCCCGGAGCACGCTGGACTCGTTCATGCAGCCGTTCCAGAGCACACTGTGGCTGCTGGTGGGGCTGTCGGTGCACGTGGTGGCCGTGATGCTGTACCTGCTGGACCGCTTCAGGTGAGCGCGACCCGGGGCTCAGACACCTCCATCTGCGGGGCGCGGAGCCGGCCAGGGGCGGGGCAGGGCCGCCTCTCCCGCCCTCTCTCCCGCCCGCCCTCTGCGCCCCGCAGCCCCTTCGGCCGGTTCAAGGTGAACAGCGAGGAGGAGGAGGAGGACGCACTGACCCTGTCCTCGGCCATGTGGTTCTCCTGGGGCGTCCTGCTCAACTCCGGCATCGGGGAAGGTAAGGCCCCGCCCGGCCCGCCTGGTCCCGCCTCGGCCCTCTAGGGTCTGACAGAGCCCCCCGCCCGCCCACAGGCGCCCCCAGAAGCTTCTCAGCGCGCATCCTGGGCATGGTGTGGGCCGGCTTTGCCATGATCATCGTGGCCTCCTACACCGCCAACCTGGCGGCCTTCCTGGTGCTGGACCGGCCGGAGGAGCGCATCACGGGCATCAACGACCCTCGGGTGAGGCCTGGCCGGGCTGGGGGAGGGAATGCGAGGTGAGCTGGGGTCGGCCTCGGTTAGGGGCCTGGGGAGCCGCCGCCGCGATCCCTGCCCTCCGACCCTGCAGCTGAGGAACCCCTCGGACAAGTTTATCTACGCCACGGTGAAGCAGAGCTCCGTGGATATCTACTTCCGGCGCCAGGTGGAGCTGAGCACCATGTACCGGCATATGGAGAAGCACAACTACGAGAGTGCGGCGGAGGCCATCCAGGCCGTGAGAGACAAGTGAGGCGCGGGCGGCCACCCTGGCGGGGCGGGACAGGTGCGGGGAGGGGGAGGGTGGCCTCCACCGGGCAGGAGAGCGTCCGGGCCGGGCACCCCGGAGGGCGCGGGCGTGGGGCTTCCAGGCTGGCAGGACCAAGGCCCCCGTGACTCCGCCTCTGCCGGCAGCAAGCTGCATGCCTTCATCTGGGACTCGGCGGTGCTGGAGTTCGAGGCCTCGCAGAAGTGCGACCTGGTGACGACTGGAGAGCTGTTTTTCCGCTCGGGCTTCGGCATAGGCATGCGCAAAGACAGCCCCTGGAAGCAGAACGTCTCCCTGTCCATCCTCAAGTGAGTGTCCGTGCGCCCGCGTCCCTCCTCCGCCCCTCTCCGCCAGAGGTGGACGCCCTCCCCAGTGCCAGACCACTCCGAGGCCACCACTGATTTCCCACCCAGGCCGGGCGCTGCCCACTCCACGCCGCACCCTACCCCGCAGGCCCCGCCCCGGCCCCGCCCCCAGCTTGCTCCTTCCCGTCCTGGGCCCCGCCTCACTGCAGGCTCACTTGTTCCCACCGCCAGGTCCCACGAGAATGGCTTCATGGAAGACCTGGACAAGACGTGGGTTCGGTATCAGGAATGTGACTCGCGCAGCAACGCCCCTGCGACCCTTACTTTTGAGAACATGGCCGGTGCGTTCTCCTTCATCCATTCTCGGGTGGGTTCTCCGTGGGCTGCGGCCTCCCTGGCCAGCAACTGAGGCTCTGGGTCCCGGCACACAGGGGTCTTCATGCTGGTAGCTGGGGGCATCGTGGCCGGGATCTTCCTGATTTTCATCGAGATTGCCTACAAGCGGCACAAGGATGCTCGCCGGAAGCAGATGCAGCTGGCCTTTGCCGCCGTTAACGTGTGGCGGAAGAACCTGCAGGTAGGGCAGGCCACCCTCCGAGGCCTGGTGCCCAGGGCCCGGCCTGGCCACGGCCCTCCTCCATCCCCGAAGGCCGTGGCACTGGCTCTGGCTCTGGTGGGCAGGACTGGAGCTAGGAGCCATGGCCAGGGGCAGTGGTGAGTGCTCCCAGGGCACGGGGGCAGCACCGGTGGGGGGCTGCCTGCAGGTGGCTGCCCACTGCAAAGCCGGGGCCGAGGGAGGCCACGCACCCTGCTCCAAGCCTCCGCCTGGCCCCTCTGTCTCCAGAGTCGCCCGCCGGTACCCATTCCATAGGAAGGCAATCAGGCAGGGTAAGACAGGGGCCCGCCTGTGTATGGCACGTGAGTCCAAGATGCATTTTGCCCTCCGCCGACCCAAGCCCCTTGACACCCTTCGGAGACCCCCCCCTTTCCTGCTATGTCCTTGTGCTCCGTGACTCTAATCCGAATTGGGCCAGGTCCGGTCCTGCCTGGTGCCCAGGTTGTATCCATGAGAATTTGCCACCAGCAAGGGCAGCCACGGCCCACCTGGGACAGGGTGGGCAGTGGGCCTGTACAGGCCTAAGGGCTCGTGGCCCGCGGTCGAGTTCCGGTTCACTCCGTCTCTTCTCTTTCTCTGGGTGCCGTCCTGGAGCCTGTGTCCTGAGATGAAGCCGACAGTGCGGCCAGGGCTGCTGGGGGATGGGGGTTGCTGGAGGCTCCACACCTCTCATCCGCCCGCTCTTGCTCTTGGCCCCCACAGGTCCCCTGGGGACCTGGCCGCTGCCAGCACTGGCGGGCACAGGCCACCTGGCCATCAGACCTGAGGCCAGAGTCCCGGGAGCTGCCTCTGTCACTCCAATTCCACCTCGACACCTGCCTCCAGCCCTCGGCCCCTTCCTGAATCTTGGTGTGTGCCCCTTGGGGGTCAGTGGCCTCCACGCAGACAGCTGGTGTGGCCTGAGGGGCAACTCCTCCAGTCCTCAGAGGACTCCTCCTCCTCGGGACGCCTGTAAGCCAGGGCCACCCAGGAGCCAGGGAGCCAGGCGGACCTCCCAGGAAGAGCCAGCCGAGAGCCCCCAAGCCCAGCCCCAGCACGAGCAAGGTCAGGCCCGAGACCCCGGGCAGGAGAAGAGGCCACCCTCGAACGTCCGCTGTCGGCCCGTCTGTCCAGCACAGGGAGGCAGGCAGGAGCGAGGGCCCAAGTGGCCGGCCAGGCTGGGCAGCGGCCCATGCAGGAGCAGGCGAGGGCAGGTGTGGCCACCACCCTAGCCATCTAATCACTTATACATATTCATTTTAGGATAGAAAGAGTGGTAGAGCAGAGCCTGACCCTAAAAAGAAAGCCACATTTAGGGCTATCACCTCCACCCTGGCTTCCAGCTTCAAGAGGCGTAGGTCCTCCAAAGACACGGTAAGGGGGAGAGCACCCCAGTCCCGCGTCCGACTCCACCTGCCCTGCCCTGCGTGTGTCTCCCGCCCCATCACCCCGCCCCGGACCCTGGGCTCCTGTGGCCCACTCTGCCCCTGTCTCCCTGTGGCGGCCGCTCTGCCCAGCCCGCCCATGCTGCTCTCTCTCACTCTCTGGACCTTTCTCCCCGGCCCTCCTGGGTCCTCGGCTTTCCCCGTGTGTCTCCGTTAGTCTGCCCGCCCACCTCCCCTGCCATGACCCACACGCCATCTTGAAGCCTGTCATCTCGTTGGTCAGTCAGTCAGCCACACCACCTCTCGGGGCCAGGTCTGGGGCCCTGGGAGCCCAGCGTGGCCCCATCCTGGACTCCTCAGCTGCCGGGAGGCCACACCACTTCTCTGTTATGTCCCCGTTTCTCTCGCCTCTCCCAGAGGGGCCCGCCGCCCTCACTTCGCCCCTGCGACGGCCCTGGAGGGGGTGGCTGTGATGTCCCATCCCGTCCGTCTGTCTGGCCACTG
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GCGGGGCCTGCTGGCTGTGGTGGGGCCCGCCCGGCGTGGGAGGGGTCTGCGAGCCAGGGCGGGGCTGGAGTGGGGTGGGGCCTGCGAGCTGGGTAGGGTCTTGGGGAGAAGACCCCCGGAGTGCTCTAGGGCGGCTTCAGTCGGGGGTACCTGTGGCGGGAGCTGGGAGGACGCTGCCTGCATGCCCGCCGGCTCTGTCGCCTCGCAGGTGAACAACAGCAACAAGAAGGAGTGGAATGGGATGATGGGCGAGCTGCTCAGCGGGCAGGCAGACATGATCGTGGCGCCGCTAACCATAAACAACGAGCGCGCGCAGTACATCGAGTTTTCCAAGCCCTTCAAGTACCAGGGCCTGACTATTCTGGTCAAGAAGGTGGGCAGGGGCCGGGTGGCGGGGTGGCGGCGGGGGGAGTCCCTGGAGGGCCCGGGCCGCGCTGACCTCGCGTCCCTCCGCAGGAGATTCCCCGGAGCACGCTGGACTCGTTCATGCAGCCGTTCCAGAGCACACTGTGGCTGCTGGTGGGGCTGTCGGTGCACGTGGTGGCCGTGATGCTGTACCTGCTGGACCGCTTCAGGTGAGCGCGACCCGGGGCTCAGACACCTCCATCTGCGGGGCGCGGAGCCGGCCAGGGGCGGGGCAGGGCCGCCTCTCCCGCCCTCTCTCCCGCCCGCCCTCTGCGCCCCGCAGCCCCTTCGGCCGGTTCAAGGTGAACAGCGAGGAGGAGGAGGAGGACGCACTGACCCTGTCCTCGGCCATGTGGTTCTCCTGGGGCGTCCTGCTCAACTCCGGCATCGGGGAAGGTAAGGCCCCGCCCGGCCCGCCTGGTCCCGCCTCGGCCCTCTAGGGTCTGACAGAGCCCCCCGCCCGCCCACAGGCGCCCCCAGAAGCTTCTCAGCGCGCATCCTGGGCATGGTGTGGGCCGGCTTTGCCATGATCATCGTGGCCTCCTACACCGCCAACCTGGCGGCCTTCCTGGTGCTGGACCGGCCGGAGGAGCGCATCACGGGCATCAACGACCCTCGGGTGAGGCCTGGCCGGGCTGGGGGAGGGAATGCGAGGTGAGCTGGGGTCGGCCTCGGTTAGGGGCCTGGGGAGCCGCCGCCGCGATCCCTGCCCTCCGACCCTGCAGCTGAGGAACCCCTCGGACAAGTTTATCTACGCCACGGTGAAGCAGAGCTCCGTGGATATCTACTTCCGGCGCCAGGTGGAGCTGAGCACCATGTACCGGCATATGGAGAAGCACAACTACGAGAGTGCGGCGGAGGCCATCCAGGCCGTGAGAGACAAGTGAGGCGCGGGCGGCCACCCTGGCGGGGCGGGACAGGTGCGGGGAGGGGGAGGGTGGCCTCCACCGGGCAGGAGAGCGTCCGGGCCGGGCACCCCGGAGGGCGCGGGCGTGGGGCTTCCAGGCTGGCAGGACCAAGGCCCCCGTGACTCCGCCTCTGCCGGCAGCAAGCTGCATGCCTTCATCTGGGACTCGGCGGTGCTGGAGTTCGAGGCCTCGCAGAAGTGCGACCTGGTGACGACTGGAGAGCTGTTTTTCCGCTCGGGCTTCGGCATAGGCATGCGCAAAGACAGCCCCTGGAAGCAGAACGTCTCCCTGTCCATCCTCAAGTGAGTGTCCGTGCGCCCGCGTCCCTCCTCCGCCCCTCTCCGCCAGAGGTGGACGCCCTCCCCAGTGCCAGACCACTCCGAGGCCACCACTGATTTCCCACCCAGGCCGGGCGCTGCCCACTCCACGCCGCACCCTACCCCGCAGGCCCCGCCCCGGCCCCGCCCCCAGCTTGCTCCTTCCCGTCCTGGGCCCCGCCTCACTGCAGGCTCACTTGTTCCCACCGCCAGGTCCCACGAGAATGGCTTCATGGAAGACCTGGACAAGACGTGGGTTCGGTATCAGGAATGTGACTCGCGCAGCAACGCCCCTGCGACCCTTACTTTTGAGAACATGGCCGGTGCGTTCTCCTTCATCCATTCTCGGGTGGGTTCTCCGTGGGCTGCGGCCTCCCTGGCCAGCAACTGAGGCTCTGGGTCCCGGCACACAGGGGTCCTCATGCTGGTAGCTGGGGGCATCGTGGCCGGGATCTTCCTGATTTTCATCGAGATTGCCTACAAGCGGCACAAGGATGCTCGCCGGAAGCAGATGCAGCTGGCCTTTGCCGCCGTTAACGTGTGGCGGAAGAACCTGCAGGTAGGGCAGGCCACCCTCCGAGGCCTGGTGCCCAGGGCCCGGCCTGGCCACGGCCCTCCTCCATCCCCGAAGGCCGTGGCACTGGCTCTGGCTCTGGTGGGCAGGACTGGAGCTAGGAGCCATGGCCAGGGGCAGTGGTGAGTGCTCCCAGGGCACGGGGGCAGCACCGGTGGGGGGCTGCCTGCAGGTGGCTGCCCACTGCAAAGCCGGGGCCGAGGGAGGCCACGCACCCTGCTCCAAGCCTCCGCCTGGCCCCTCTGTCTCCAGAGTCGCCCGCCGGTACCCATTCCATAGGAAGGCAATCAGGCAGGGTAAGACAGGGGCCCGCCTGTGTATGGCACGTGAGTCCAAGATGCATTTTGCCCTCCGCCGACCCAAGCCCCTTGACACCCTTCGGAGACCCCCCCCTTTCCTGCTATGTCCTTGTGCTCCGTGACTCTAATCCGAATTGGGCCAGGTCCGGTCCTGCCTGGTGCCCAGGTTGTATCCATGAGAATTTGCCACCAGCAAGGGCAGCCACGGCCCACCTGGGACAGGGTGGGCAGTGGGCCTGTACAGGCCTAAGGGCTCGTGGCCCGCGGTCGAGTTCCGGTTCACTCCGTCTCTTCTCTTTCTCTGGGTGCCGTCCTGGAGCCTGTGTCCTGAGATGAAGCCGACAGTGCGGCCAGGGCTGCTGGGGGATGGGGGTTGCTGGAGGCTCCACACCTCTCATCCGCCCGCTCTTGCTCTTGGCCCCCACAGGTCCCCTGGGGACCTGGCCGCTGCCAGCACTGGCGGGCACAGGCCACCTGGCCATCAGACCTGAGGCCAGAGTCCCGGGAGCTGCCTCTGTCACTCCAATTCCACCTCGACACCTGCCTCCAGCCCTCGGCCCCTTCCTGAATCTTGGTGTGTGCCCCTTGGGGGTCAGTGGCCTCCACGCAGACAGCTGGTGTGGCCTGAGGGGCAACTCCTCCAGTCCTCAGAGGACTCCTCCTCCTCGGGACGCCTGTAAGCCAGGGCCACCCAGGAGCCAGGGAGCCAGGCGGACCTCCCAGGAAGAGCCAGCCGAGAGCCCCCAAGCCCAGCCCCAGCACGAGCAAGGTCAGGCCCGAGACCCCGGGCAGGAGAAGAGGCCACCCTCGAACGTCCGCTGTCGGCCCGTCTGTCCAGCACAGGGAGGCAGGCAGGAGCGAGGGCCCAAGTGGCCGGCCAGGCTGGGCAGCGGCCCATGCAGGAGCAGGCGAGGGCAGGTGTGGCCACCACCCTAGCCATCTAATCACTTATACATATTCATTTTAGGATAGAAAGAGTGGTAGAGCAGAGCCTGACCCTAAAAAGAAAGCCACATTTAGGGCTATCACCTCCACCCTGGCTTCCAGCTTCAAGAGGCGTAGGTCCTCCAAAGACACGGTAAGGGGGAGAGCACCCCAGTCCCGCGTCCGACTCCACCTGCCCTGCCCTGCGTGTGTCTCCCGCCCCATCACCCCGCCCCGGACCCTGGGCTCCTGTGGCCCACTCTGCCCCTGTCTCCCTGTGGCGGCCGCTCTGCCCAGCCCGCCCATGCTGCTCTCTCTCACTCTCTGGACCTTTCTCCCCGGCCCTCCTGGGTCCTCGGCTTTCCCCGTGTGTCTCCGTTAGTCTGCCCGCCCACCTCCCCTGCCATGACCCACACGCCATCTTGAAGCCTGTCATCTCGTTGGTCAGTCAGTCAGCCACACCACCTCTCGGGGCCAGGTCTGGGGCCCTGGGAGCCCAGCGTGGCCCCATCCTGGACTCCTCAGCTGCCGGGAGGCCACACCACTTCTCTGTTATGTCCCCGTTTCTCTCGCCTCTCCCAGAGGGGCCCGCCGCCCTCACTTCGCCCCTGCGACGGCCCTGGAGGGGGTGGCTGTGATGTCCCATCCCGTCCGTCTGTCTGGCCACTG
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Task1_train_13609
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This gene mutation involves GRIN1 (glutamate ionotropic receptor NMDA type subunit 1) on Chromosome 9. Is it associated with any clinical condition, or is it benign?
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Pathogenic; Intellectual disability, autosomal dominant 8
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GGGGCCTGCTGGCTGTGGTGGGGCCCGCCCGGCGTGGGAGGGGTCTGCGAGCCAGGGCGGGGCTGGAGTGGGGTGGGGCCTGCGAGCTGGGTAGGGTCTTGGGGAGAAGACCCCCGGAGTGCTCTAGGGCGGCTTCAGTCGGGGGTACCTGTGGCGGGAGCTGGGAGGACGCTGCCTGCATGCCCGCCGGCTCTGTCGCCTCGCAGGTGAACAACAGCAACAAGAAGGAGTGGAATGGGATGATGGGCGAGCTGCTCAGCGGGCAGGCAGACATGATCGTGGCGCCGCTAACCATAAACAACGAGCGCGCGCAGTACATCGAGTTTTCCAAGCCCTTCAAGTACCAGGGCCTGACTATTCTGGTCAAGAAGGTGGGCAGGGGCCGGGTGGCGGGGTGGCGGCGGGGGGAGTCCCTGGAGGGCCCGGGCCGCGCTGACCTCGCGTCCCTCCGCAGGAGATTCCCCGGAGCACGCTGGACTCGTTCATGCAGCCGTTCCAGAGCACACTGTGGCTGCTGGTGGGGCTGTCGGTGCACGTGGTGGCCGTGATGCTGTACCTGCTGGACCGCTTCAGGTGAGCGCGACCCGGGGCTCAGACACCTCCATCTGCGGGGCGCGGAGCCGGCCAGGGGCGGGGCAGGGCCGCCTCTCCCGCCCTCTCTCCCGCCCGCCCTCTGCGCCCCGCAGCCCCTTCGGCCGGTTCAAGGTGAACAGCGAGGAGGAGGAGGAGGACGCACTGACCCTGTCCTCGGCCATGTGGTTCTCCTGGGGCGTCCTGCTCAACTCCGGCATCGGGGAAGGTAAGGCCCCGCCCGGCCCGCCTGGTCCCGCCTCGGCCCTCTAGGGTCTGACAGAGCCCCCCGCCCGCCCACAGGCGCCCCCAGAAGCTTCTCAGCGCGCATCCTGGGCATGGTGTGGGCCGGCTTTGCCATGATCATCGTGGCCTCCTACACCGCCAACCTGGCGGCCTTCCTGGTGCTGGACCGGCCGGAGGAGCGCATCACGGGCATCAACGACCCTCGGGTGAGGCCTGGCCGGGCTGGGGGAGGGAATGCGAGGTGAGCTGGGGTCGGCCTCGGTTAGGGGCCTGGGGAGCCGCCGCCGCGATCCCTGCCCTCCGACCCTGCAGCTGAGGAACCCCTCGGACAAGTTTATCTACGCCACGGTGAAGCAGAGCTCCGTGGATATCTACTTCCGGCGCCAGGTGGAGCTGAGCACCATGTACCGGCATATGGAGAAGCACAACTACGAGAGTGCGGCGGAGGCCATCCAGGCCGTGAGAGACAAGTGAGGCGCGGGCGGCCACCCTGGCGGGGCGGGACAGGTGCGGGGAGGGGGAGGGTGGCCTCCACCGGGCAGGAGAGCGTCCGGGCCGGGCACCCCGGAGGGCGCGGGCGTGGGGCTTCCAGGCTGGCAGGACCAAGGCCCCCGTGACTCCGCCTCTGCCGGCAGCAAGCTGCATGCCTTCATCTGGGACTCGGCGGTGCTGGAGTTCGAGGCCTCGCAGAAGTGCGACCTGGTGACGACTGGAGAGCTGTTTTTCCGCTCGGGCTTCGGCATAGGCATGCGCAAAGACAGCCCCTGGAAGCAGAACGTCTCCCTGTCCATCCTCAAGTGAGTGTCCGTGCGCCCGCGTCCCTCCTCCGCCCCTCTCCGCCAGAGGTGGACGCCCTCCCCAGTGCCAGACCACTCCGAGGCCACCACTGATTTCCCACCCAGGCCGGGCGCTGCCCACTCCACGCCGCACCCTACCCCGCAGGCCCCGCCCCGGCCCCGCCCCCAGCTTGCTCCTTCCCGTCCTGGGCCCCGCCTCACTGCAGGCTCACTTGTTCCCACCGCCAGGTCCCACGAGAATGGCTTCATGGAAGACCTGGACAAGACGTGGGTTCGGTATCAGGAATGTGACTCGCGCAGCAACGCCCCTGCGACCCTTACTTTTGAGAACATGGCCGGTGCGTTCTCCTTCATCCATTCTCGGGTGGGTTCTCCGTGGGCTGCGGCCTCCCTGGCCAGCAACTGAGGCTCTGGGTCCCGGCACACAGGGGTCTTCATGCTGGTAGCTGGGGGCATCGTGGCCGGGATCTTCCTGATTTTCATCGAGATTGCCTACAAGCGGCACAAGGATGCTCGCCGGAAGCAGATGCAGCTGGCCTTTGCCGCCGTTAACGTGTGGCGGAAGAACCTGCAGGTAGGGCAGGCCACCCTCCGAGGCCTGGTGCCCAGGGCCCGGCCTGGCCACGGCCCTCCTCCATCCCCGAAGGCCGTGGCACTGGCTCTGGCTCTGGTGGGCAGGACTGGAGCTAGGAGCCATGGCCAGGGGCAGTGGTGAGTGCTCCCAGGGCACGGGGGCAGCACCGGTGGGGGGCTGCCTGCAGGTGGCTGCCCACTGCAAAGCCGGGGCCGAGGGAGGCCACGCACCCTGCTCCAAGCCTCCGCCTGGCCCCTCTGTCTCCAGAGTCGCCCGCCGGTACCCATTCCATAGGAAGGCAATCAGGCAGGGTAAGACAGGGGCCCGCCTGTGTATGGCACGTGAGTCCAAGATGCATTTTGCCCTCCGCCGACCCAAGCCCCTTGACACCCTTCGGAGACCCCCCCCTTTCCTGCTATGTCCTTGTGCTCCGTGACTCTAATCCGAATTGGGCCAGGTCCGGTCCTGCCTGGTGCCCAGGTTGTATCCATGAGAATTTGCCACCAGCAAGGGCAGCCACGGCCCACCTGGGACAGGGTGGGCAGTGGGCCTGTACAGGCCTAAGGGCTCGTGGCCCGCGGTCGAGTTCCGGTTCACTCCGTCTCTTCTCTTTCTCTGGGTGCCGTCCTGGAGCCTGTGTCCTGAGATGAAGCCGACAGTGCGGCCAGGGCTGCTGGGGGATGGGGGTTGCTGGAGGCTCCACACCTCTCATCCGCCCGCTCTTGCTCTTGGCCCCCACAGGTCCCCTGGGGACCTGGCCGCTGCCAGCACTGGCGGGCACAGGCCACCTGGCCATCAGACCTGAGGCCAGAGTCCCGGGAGCTGCCTCTGTCACTCCAATTCCACCTCGACACCTGCCTCCAGCCCTCGGCCCCTTCCTGAATCTTGGTGTGTGCCCCTTGGGGGTCAGTGGCCTCCACGCAGACAGCTGGTGTGGCCTGAGGGGCAACTCCTCCAGTCCTCAGAGGACTCCTCCTCCTCGGGACGCCTGTAAGCCAGGGCCACCCAGGAGCCAGGGAGCCAGGCGGACCTCCCAGGAAGAGCCAGCCGAGAGCCCCCAAGCCCAGCCCCAGCACGAGCAAGGTCAGGCCCGAGACCCCGGGCAGGAGAAGAGGCCACCCTCGAACGTCCGCTGTCGGCCCGTCTGTCCAGCACAGGGAGGCAGGCAGGAGCGAGGGCCCAAGTGGCCGGCCAGGCTGGGCAGCGGCCCATGCAGGAGCAGGCGAGGGCAGGTGTGGCCACCACCCTAGCCATCTAATCACTTATACATATTCATTTTAGGATAGAAAGAGTGGTAGAGCAGAGCCTGACCCTAAAAAGAAAGCCACATTTAGGGCTATCACCTCCACCCTGGCTTCCAGCTTCAAGAGGCGTAGGTCCTCCAAAGACACGGTAAGGGGGAGAGCACCCCAGTCCCGCGTCCGACTCCACCTGCCCTGCCCTGCGTGTGTCTCCCGCCCCATCACCCCGCCCCGGACCCTGGGCTCCTGTGGCCCACTCTGCCCCTGTCTCCCTGTGGCGGCCGCTCTGCCCAGCCCGCCCATGCTGCTCTCTCTCACTCTCTGGACCTTTCTCCCCGGCCCTCCTGGGTCCTCGGCTTTCCCCGTGTGTCTCCGTTAGTCTGCCCGCCCACCTCCCCTGCCATGACCCACACGCCATCTTGAAGCCTGTCATCTCGTTGGTCAGTCAGTCAGCCACACCACCTCTCGGGGCCAGGTCTGGGGCCCTGGGAGCCCAGCGTGGCCCCATCCTGGACTCCTCAGCTGCCGGGAGGCCACACCACTTCTCTGTTATGTCCCCGTTTCTCTCGCCTCTCCCAGAGGGGCCCGCCGCCCTCACTTCGCCCCTGCGACGGCCCTGGAGGGGGTGGCTGTGATGTCCCATCCCGTCCGTCTGTCTGGCCACTGGC
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GGGGCCTGCTGGCTGTGGTGGGGCCCGCCCGGCGTGGGAGGGGTCTGCGAGCCAGGGCGGGGCTGGAGTGGGGTGGGGCCTGCGAGCTGGGTAGGGTCTTGGGGAGAAGACCCCCGGAGTGCTCTAGGGCGGCTTCAGTCGGGGGTACCTGTGGCGGGAGCTGGGAGGACGCTGCCTGCATGCCCGCCGGCTCTGTCGCCTCGCAGGTGAACAACAGCAACAAGAAGGAGTGGAATGGGATGATGGGCGAGCTGCTCAGCGGGCAGGCAGACATGATCGTGGCGCCGCTAACCATAAACAACGAGCGCGCGCAGTACATCGAGTTTTCCAAGCCCTTCAAGTACCAGGGCCTGACTATTCTGGTCAAGAAGGTGGGCAGGGGCCGGGTGGCGGGGTGGCGGCGGGGGGAGTCCCTGGAGGGCCCGGGCCGCGCTGACCTCGCGTCCCTCCGCAGGAGATTCCCCGGAGCACGCTGGACTCGTTCATGCAGCCGTTCCAGAGCACACTGTGGCTGCTGGTGGGGCTGTCGGTGCACGTGGTGGCCGTGATGCTGTACCTGCTGGACCGCTTCAGGTGAGCGCGACCCGGGGCTCAGACACCTCCATCTGCGGGGCGCGGAGCCGGCCAGGGGCGGGGCAGGGCCGCCTCTCCCGCCCTCTCTCCCGCCCGCCCTCTGCGCCCCGCAGCCCCTTCGGCCGGTTCAAGGTGAACAGCGAGGAGGAGGAGGAGGACGCACTGACCCTGTCCTCGGCCATGTGGTTCTCCTGGGGCGTCCTGCTCAACTCCGGCATCGGGGAAGGTAAGGCCCCGCCCGGCCCGCCTGGTCCCGCCTCGGCCCTCTAGGGTCTGACAGAGCCCCCCGCCCGCCCACAGGCGCCCCCAGAAGCTTCTCAGCGCGCATCCTGGGCATGGTGTGGGCCGGCTTTGCCATGATCATCGTGGCCTCCTACACCGCCAACCTGGCGGCCTTCCTGGTGCTGGACCGGCCGGAGGAGCGCATCACGGGCATCAACGACCCTCGGGTGAGGCCTGGCCGGGCTGGGGGAGGGAATGCGAGGTGAGCTGGGGTCGGCCTCGGTTAGGGGCCTGGGGAGCCGCCGCCGCGATCCCTGCCCTCCGACCCTGCAGCTGAGGAACCCCTCGGACAAGTTTATCTACGCCACGGTGAAGCAGAGCTCCGTGGATATCTACTTCCGGCGCCAGGTGGAGCTGAGCACCATGTACCGGCATATGGAGAAGCACAACTACGAGAGTGCGGCGGAGGCCATCCAGGCCGTGAGAGACAAGTGAGGCGCGGGCGGCCACCCTGGCGGGGCGGGACAGGTGCGGGGAGGGGGAGGGTGGCCTCCACCGGGCAGGAGAGCGTCCGGGCCGGGCACCCCGGAGGGCGCGGGCGTGGGGCTTCCAGGCTGGCAGGACCAAGGCCCCCGTGACTCCGCCTCTGCCGGCAGCAAGCTGCATGCCTTCATCTGGGACTCGGCGGTGCTGGAGTTCGAGGCCTCGCAGAAGTGCGACCTGGTGACGACTGGAGAGCTGTTTTTCCGCTCGGGCTTCGGCATAGGCATGCGCAAAGACAGCCCCTGGAAGCAGAACGTCTCCCTGTCCATCCTCAAGTGAGTGTCCGTGCGCCCGCGTCCCTCCTCCGCCCCTCTCCGCCAGAGGTGGACGCCCTCCCCAGTGCCAGACCACTCCGAGGCCACCACTGATTTCCCACCCAGGCCGGGCGCTGCCCACTCCACGCCGCACCCTACCCCGCAGGCCCCGCCCCGGCCCCGCCCCCAGCTTGCTCCTTCCCGTCCTGGGCCCCGCCTCACTGCAGGCTCACTTGTTCCCACCGCCAGGTCCCACGAGAATGGCTTCATGGAAGACCTGGACAAGACGTGGGTTCGGTATCAGGAATGTGACTCGCGCAGCAACGCCCCTGCGACCCTTACTTTTGAGAACATGGCCGGTGCGTTCTCCTTCATCCATTCTCGGGTGGGTTCTCCGTGGGCTGCGGCCTCCCTGGCCAGCAACTGAGGCTCTGGGTCCCGGCACACAGGGGTCTTAATGCTGGTAGCTGGGGGCATCGTGGCCGGGATCTTCCTGATTTTCATCGAGATTGCCTACAAGCGGCACAAGGATGCTCGCCGGAAGCAGATGCAGCTGGCCTTTGCCGCCGTTAACGTGTGGCGGAAGAACCTGCAGGTAGGGCAGGCCACCCTCCGAGGCCTGGTGCCCAGGGCCCGGCCTGGCCACGGCCCTCCTCCATCCCCGAAGGCCGTGGCACTGGCTCTGGCTCTGGTGGGCAGGACTGGAGCTAGGAGCCATGGCCAGGGGCAGTGGTGAGTGCTCCCAGGGCACGGGGGCAGCACCGGTGGGGGGCTGCCTGCAGGTGGCTGCCCACTGCAAAGCCGGGGCCGAGGGAGGCCACGCACCCTGCTCCAAGCCTCCGCCTGGCCCCTCTGTCTCCAGAGTCGCCCGCCGGTACCCATTCCATAGGAAGGCAATCAGGCAGGGTAAGACAGGGGCCCGCCTGTGTATGGCACGTGAGTCCAAGATGCATTTTGCCCTCCGCCGACCCAAGCCCCTTGACACCCTTCGGAGACCCCCCCCTTTCCTGCTATGTCCTTGTGCTCCGTGACTCTAATCCGAATTGGGCCAGGTCCGGTCCTGCCTGGTGCCCAGGTTGTATCCATGAGAATTTGCCACCAGCAAGGGCAGCCACGGCCCACCTGGGACAGGGTGGGCAGTGGGCCTGTACAGGCCTAAGGGCTCGTGGCCCGCGGTCGAGTTCCGGTTCACTCCGTCTCTTCTCTTTCTCTGGGTGCCGTCCTGGAGCCTGTGTCCTGAGATGAAGCCGACAGTGCGGCCAGGGCTGCTGGGGGATGGGGGTTGCTGGAGGCTCCACACCTCTCATCCGCCCGCTCTTGCTCTTGGCCCCCACAGGTCCCCTGGGGACCTGGCCGCTGCCAGCACTGGCGGGCACAGGCCACCTGGCCATCAGACCTGAGGCCAGAGTCCCGGGAGCTGCCTCTGTCACTCCAATTCCACCTCGACACCTGCCTCCAGCCCTCGGCCCCTTCCTGAATCTTGGTGTGTGCCCCTTGGGGGTCAGTGGCCTCCACGCAGACAGCTGGTGTGGCCTGAGGGGCAACTCCTCCAGTCCTCAGAGGACTCCTCCTCCTCGGGACGCCTGTAAGCCAGGGCCACCCAGGAGCCAGGGAGCCAGGCGGACCTCCCAGGAAGAGCCAGCCGAGAGCCCCCAAGCCCAGCCCCAGCACGAGCAAGGTCAGGCCCGAGACCCCGGGCAGGAGAAGAGGCCACCCTCGAACGTCCGCTGTCGGCCCGTCTGTCCAGCACAGGGAGGCAGGCAGGAGCGAGGGCCCAAGTGGCCGGCCAGGCTGGGCAGCGGCCCATGCAGGAGCAGGCGAGGGCAGGTGTGGCCACCACCCTAGCCATCTAATCACTTATACATATTCATTTTAGGATAGAAAGAGTGGTAGAGCAGAGCCTGACCCTAAAAAGAAAGCCACATTTAGGGCTATCACCTCCACCCTGGCTTCCAGCTTCAAGAGGCGTAGGTCCTCCAAAGACACGGTAAGGGGGAGAGCACCCCAGTCCCGCGTCCGACTCCACCTGCCCTGCCCTGCGTGTGTCTCCCGCCCCATCACCCCGCCCCGGACCCTGGGCTCCTGTGGCCCACTCTGCCCCTGTCTCCCTGTGGCGGCCGCTCTGCCCAGCCCGCCCATGCTGCTCTCTCTCACTCTCTGGACCTTTCTCCCCGGCCCTCCTGGGTCCTCGGCTTTCCCCGTGTGTCTCCGTTAGTCTGCCCGCCCACCTCCCCTGCCATGACCCACACGCCATCTTGAAGCCTGTCATCTCGTTGGTCAGTCAGTCAGCCACACCACCTCTCGGGGCCAGGTCTGGGGCCCTGGGAGCCCAGCGTGGCCCCATCCTGGACTCCTCAGCTGCCGGGAGGCCACACCACTTCTCTGTTATGTCCCCGTTTCTCTCGCCTCTCCCAGAGGGGCCCGCCGCCCTCACTTCGCCCCTGCGACGGCCCTGGAGGGGGTGGCTGTGATGTCCCATCCCGTCCGTCTGTCTGGCCACTGGC
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Task1_train_13610
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This genomic variant is located on Chromosome 9, within the GRIN1 (glutamate ionotropic receptor NMDA type subunit 1) gene. Can you determine its pathogenicity and name any linked disease?
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Pathogenic; Intellectual disability, autosomal dominant 8
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CCGGCGTGGGAGGGGTCTGCGAGCCAGGGCGGGGCTGGAGTGGGGTGGGGCCTGCGAGCTGGGTAGGGTCTTGGGGAGAAGACCCCCGGAGTGCTCTAGGGCGGCTTCAGTCGGGGGTACCTGTGGCGGGAGCTGGGAGGACGCTGCCTGCATGCCCGCCGGCTCTGTCGCCTCGCAGGTGAACAACAGCAACAAGAAGGAGTGGAATGGGATGATGGGCGAGCTGCTCAGCGGGCAGGCAGACATGATCGTGGCGCCGCTAACCATAAACAACGAGCGCGCGCAGTACATCGAGTTTTCCAAGCCCTTCAAGTACCAGGGCCTGACTATTCTGGTCAAGAAGGTGGGCAGGGGCCGGGTGGCGGGGTGGCGGCGGGGGGAGTCCCTGGAGGGCCCGGGCCGCGCTGACCTCGCGTCCCTCCGCAGGAGATTCCCCGGAGCACGCTGGACTCGTTCATGCAGCCGTTCCAGAGCACACTGTGGCTGCTGGTGGGGCTGTCGGTGCACGTGGTGGCCGTGATGCTGTACCTGCTGGACCGCTTCAGGTGAGCGCGACCCGGGGCTCAGACACCTCCATCTGCGGGGCGCGGAGCCGGCCAGGGGCGGGGCAGGGCCGCCTCTCCCGCCCTCTCTCCCGCCCGCCCTCTGCGCCCCGCAGCCCCTTCGGCCGGTTCAAGGTGAACAGCGAGGAGGAGGAGGAGGACGCACTGACCCTGTCCTCGGCCATGTGGTTCTCCTGGGGCGTCCTGCTCAACTCCGGCATCGGGGAAGGTAAGGCCCCGCCCGGCCCGCCTGGTCCCGCCTCGGCCCTCTAGGGTCTGACAGAGCCCCCCGCCCGCCCACAGGCGCCCCCAGAAGCTTCTCAGCGCGCATCCTGGGCATGGTGTGGGCCGGCTTTGCCATGATCATCGTGGCCTCCTACACCGCCAACCTGGCGGCCTTCCTGGTGCTGGACCGGCCGGAGGAGCGCATCACGGGCATCAACGACCCTCGGGTGAGGCCTGGCCGGGCTGGGGGAGGGAATGCGAGGTGAGCTGGGGTCGGCCTCGGTTAGGGGCCTGGGGAGCCGCCGCCGCGATCCCTGCCCTCCGACCCTGCAGCTGAGGAACCCCTCGGACAAGTTTATCTACGCCACGGTGAAGCAGAGCTCCGTGGATATCTACTTCCGGCGCCAGGTGGAGCTGAGCACCATGTACCGGCATATGGAGAAGCACAACTACGAGAGTGCGGCGGAGGCCATCCAGGCCGTGAGAGACAAGTGAGGCGCGGGCGGCCACCCTGGCGGGGCGGGACAGGTGCGGGGAGGGGGAGGGTGGCCTCCACCGGGCAGGAGAGCGTCCGGGCCGGGCACCCCGGAGGGCGCGGGCGTGGGGCTTCCAGGCTGGCAGGACCAAGGCCCCCGTGACTCCGCCTCTGCCGGCAGCAAGCTGCATGCCTTCATCTGGGACTCGGCGGTGCTGGAGTTCGAGGCCTCGCAGAAGTGCGACCTGGTGACGACTGGAGAGCTGTTTTTCCGCTCGGGCTTCGGCATAGGCATGCGCAAAGACAGCCCCTGGAAGCAGAACGTCTCCCTGTCCATCCTCAAGTGAGTGTCCGTGCGCCCGCGTCCCTCCTCCGCCCCTCTCCGCCAGAGGTGGACGCCCTCCCCAGTGCCAGACCACTCCGAGGCCACCACTGATTTCCCACCCAGGCCGGGCGCTGCCCACTCCACGCCGCACCCTACCCCGCAGGCCCCGCCCCGGCCCCGCCCCCAGCTTGCTCCTTCCCGTCCTGGGCCCCGCCTCACTGCAGGCTCACTTGTTCCCACCGCCAGGTCCCACGAGAATGGCTTCATGGAAGACCTGGACAAGACGTGGGTTCGGTATCAGGAATGTGACTCGCGCAGCAACGCCCCTGCGACCCTTACTTTTGAGAACATGGCCGGTGCGTTCTCCTTCATCCATTCTCGGGTGGGTTCTCCGTGGGCTGCGGCCTCCCTGGCCAGCAACTGAGGCTCTGGGTCCCGGCACACAGGGGTCTTCATGCTGGTAGCTGGGGGCATCGTGGCCGGGATCTTCCTGATTTTCATCGAGATTGCCTACAAGCGGCACAAGGATGCTCGCCGGAAGCAGATGCAGCTGGCCTTTGCCGCCGTTAACGTGTGGCGGAAGAACCTGCAGGTAGGGCAGGCCACCCTCCGAGGCCTGGTGCCCAGGGCCCGGCCTGGCCACGGCCCTCCTCCATCCCCGAAGGCCGTGGCACTGGCTCTGGCTCTGGTGGGCAGGACTGGAGCTAGGAGCCATGGCCAGGGGCAGTGGTGAGTGCTCCCAGGGCACGGGGGCAGCACCGGTGGGGGGCTGCCTGCAGGTGGCTGCCCACTGCAAAGCCGGGGCCGAGGGAGGCCACGCACCCTGCTCCAAGCCTCCGCCTGGCCCCTCTGTCTCCAGAGTCGCCCGCCGGTACCCATTCCATAGGAAGGCAATCAGGCAGGGTAAGACAGGGGCCCGCCTGTGTATGGCACGTGAGTCCAAGATGCATTTTGCCCTCCGCCGACCCAAGCCCCTTGACACCCTTCGGAGACCCCCCCCTTTCCTGCTATGTCCTTGTGCTCCGTGACTCTAATCCGAATTGGGCCAGGTCCGGTCCTGCCTGGTGCCCAGGTTGTATCCATGAGAATTTGCCACCAGCAAGGGCAGCCACGGCCCACCTGGGACAGGGTGGGCAGTGGGCCTGTACAGGCCTAAGGGCTCGTGGCCCGCGGTCGAGTTCCGGTTCACTCCGTCTCTTCTCTTTCTCTGGGTGCCGTCCTGGAGCCTGTGTCCTGAGATGAAGCCGACAGTGCGGCCAGGGCTGCTGGGGGATGGGGGTTGCTGGAGGCTCCACACCTCTCATCCGCCCGCTCTTGCTCTTGGCCCCCACAGGTCCCCTGGGGACCTGGCCGCTGCCAGCACTGGCGGGCACAGGCCACCTGGCCATCAGACCTGAGGCCAGAGTCCCGGGAGCTGCCTCTGTCACTCCAATTCCACCTCGACACCTGCCTCCAGCCCTCGGCCCCTTCCTGAATCTTGGTGTGTGCCCCTTGGGGGTCAGTGGCCTCCACGCAGACAGCTGGTGTGGCCTGAGGGGCAACTCCTCCAGTCCTCAGAGGACTCCTCCTCCTCGGGACGCCTGTAAGCCAGGGCCACCCAGGAGCCAGGGAGCCAGGCGGACCTCCCAGGAAGAGCCAGCCGAGAGCCCCCAAGCCCAGCCCCAGCACGAGCAAGGTCAGGCCCGAGACCCCGGGCAGGAGAAGAGGCCACCCTCGAACGTCCGCTGTCGGCCCGTCTGTCCAGCACAGGGAGGCAGGCAGGAGCGAGGGCCCAAGTGGCCGGCCAGGCTGGGCAGCGGCCCATGCAGGAGCAGGCGAGGGCAGGTGTGGCCACCACCCTAGCCATCTAATCACTTATACATATTCATTTTAGGATAGAAAGAGTGGTAGAGCAGAGCCTGACCCTAAAAAGAAAGCCACATTTAGGGCTATCACCTCCACCCTGGCTTCCAGCTTCAAGAGGCGTAGGTCCTCCAAAGACACGGTAAGGGGGAGAGCACCCCAGTCCCGCGTCCGACTCCACCTGCCCTGCCCTGCGTGTGTCTCCCGCCCCATCACCCCGCCCCGGACCCTGGGCTCCTGTGGCCCACTCTGCCCCTGTCTCCCTGTGGCGGCCGCTCTGCCCAGCCCGCCCATGCTGCTCTCTCTCACTCTCTGGACCTTTCTCCCCGGCCCTCCTGGGTCCTCGGCTTTCCCCGTGTGTCTCCGTTAGTCTGCCCGCCCACCTCCCCTGCCATGACCCACACGCCATCTTGAAGCCTGTCATCTCGTTGGTCAGTCAGTCAGCCACACCACCTCTCGGGGCCAGGTCTGGGGCCCTGGGAGCCCAGCGTGGCCCCATCCTGGACTCCTCAGCTGCCGGGAGGCCACACCACTTCTCTGTTATGTCCCCGTTTCTCTCGCCTCTCCCAGAGGGGCCCGCCGCCCTCACTTCGCCCCTGCGACGGCCCTGGAGGGGGTGGCTGTGATGTCCCATCCCGTCCGTCTGTCTGGCCACTGGCCCCGCCCCCCAGACACCTGTCTCACCTG
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CCGGCGTGGGAGGGGTCTGCGAGCCAGGGCGGGGCTGGAGTGGGGTGGGGCCTGCGAGCTGGGTAGGGTCTTGGGGAGAAGACCCCCGGAGTGCTCTAGGGCGGCTTCAGTCGGGGGTACCTGTGGCGGGAGCTGGGAGGACGCTGCCTGCATGCCCGCCGGCTCTGTCGCCTCGCAGGTGAACAACAGCAACAAGAAGGAGTGGAATGGGATGATGGGCGAGCTGCTCAGCGGGCAGGCAGACATGATCGTGGCGCCGCTAACCATAAACAACGAGCGCGCGCAGTACATCGAGTTTTCCAAGCCCTTCAAGTACCAGGGCCTGACTATTCTGGTCAAGAAGGTGGGCAGGGGCCGGGTGGCGGGGTGGCGGCGGGGGGAGTCCCTGGAGGGCCCGGGCCGCGCTGACCTCGCGTCCCTCCGCAGGAGATTCCCCGGAGCACGCTGGACTCGTTCATGCAGCCGTTCCAGAGCACACTGTGGCTGCTGGTGGGGCTGTCGGTGCACGTGGTGGCCGTGATGCTGTACCTGCTGGACCGCTTCAGGTGAGCGCGACCCGGGGCTCAGACACCTCCATCTGCGGGGCGCGGAGCCGGCCAGGGGCGGGGCAGGGCCGCCTCTCCCGCCCTCTCTCCCGCCCGCCCTCTGCGCCCCGCAGCCCCTTCGGCCGGTTCAAGGTGAACAGCGAGGAGGAGGAGGAGGACGCACTGACCCTGTCCTCGGCCATGTGGTTCTCCTGGGGCGTCCTGCTCAACTCCGGCATCGGGGAAGGTAAGGCCCCGCCCGGCCCGCCTGGTCCCGCCTCGGCCCTCTAGGGTCTGACAGAGCCCCCCGCCCGCCCACAGGCGCCCCCAGAAGCTTCTCAGCGCGCATCCTGGGCATGGTGTGGGCCGGCTTTGCCATGATCATCGTGGCCTCCTACACCGCCAACCTGGCGGCCTTCCTGGTGCTGGACCGGCCGGAGGAGCGCATCACGGGCATCAACGACCCTCGGGTGAGGCCTGGCCGGGCTGGGGGAGGGAATGCGAGGTGAGCTGGGGTCGGCCTCGGTTAGGGGCCTGGGGAGCCGCCGCCGCGATCCCTGCCCTCCGACCCTGCAGCTGAGGAACCCCTCGGACAAGTTTATCTACGCCACGGTGAAGCAGAGCTCCGTGGATATCTACTTCCGGCGCCAGGTGGAGCTGAGCACCATGTACCGGCATATGGAGAAGCACAACTACGAGAGTGCGGCGGAGGCCATCCAGGCCGTGAGAGACAAGTGAGGCGCGGGCGGCCACCCTGGCGGGGCGGGACAGGTGCGGGGAGGGGGAGGGTGGCCTCCACCGGGCAGGAGAGCGTCCGGGCCGGGCACCCCGGAGGGCGCGGGCGTGGGGCTTCCAGGCTGGCAGGACCAAGGCCCCCGTGACTCCGCCTCTGCCGGCAGCAAGCTGCATGCCTTCATCTGGGACTCGGCGGTGCTGGAGTTCGAGGCCTCGCAGAAGTGCGACCTGGTGACGACTGGAGAGCTGTTTTTCCGCTCGGGCTTCGGCATAGGCATGCGCAAAGACAGCCCCTGGAAGCAGAACGTCTCCCTGTCCATCCTCAAGTGAGTGTCCGTGCGCCCGCGTCCCTCCTCCGCCCCTCTCCGCCAGAGGTGGACGCCCTCCCCAGTGCCAGACCACTCCGAGGCCACCACTGATTTCCCACCCAGGCCGGGCGCTGCCCACTCCACGCCGCACCCTACCCCGCAGGCCCCGCCCCGGCCCCGCCCCCAGCTTGCTCCTTCCCGTCCTGGGCCCCGCCTCACTGCAGGCTCACTTGTTCCCACCGCCAGGTCCCACGAGAATGGCTTCATGGAAGACCTGGACAAGACGTGGGTTCGGTATCAGGAATGTGACTCGCGCAGCAACGCCCCTGCGACCCTTACTTTTGAGAACATGGCCGGTGCGTTCTCCTTCATCCATTCTCGGGTGGGTTCTCCGTGGGCTGCGGCCTCCCTGGCCAGCAACTGAGGCTCTGGGTCCCGGCACACAGGGGTCTTCATGCTGGTAGCTGGGGGCATCGTGGCCAGGATCTTCCTGATTTTCATCGAGATTGCCTACAAGCGGCACAAGGATGCTCGCCGGAAGCAGATGCAGCTGGCCTTTGCCGCCGTTAACGTGTGGCGGAAGAACCTGCAGGTAGGGCAGGCCACCCTCCGAGGCCTGGTGCCCAGGGCCCGGCCTGGCCACGGCCCTCCTCCATCCCCGAAGGCCGTGGCACTGGCTCTGGCTCTGGTGGGCAGGACTGGAGCTAGGAGCCATGGCCAGGGGCAGTGGTGAGTGCTCCCAGGGCACGGGGGCAGCACCGGTGGGGGGCTGCCTGCAGGTGGCTGCCCACTGCAAAGCCGGGGCCGAGGGAGGCCACGCACCCTGCTCCAAGCCTCCGCCTGGCCCCTCTGTCTCCAGAGTCGCCCGCCGGTACCCATTCCATAGGAAGGCAATCAGGCAGGGTAAGACAGGGGCCCGCCTGTGTATGGCACGTGAGTCCAAGATGCATTTTGCCCTCCGCCGACCCAAGCCCCTTGACACCCTTCGGAGACCCCCCCCTTTCCTGCTATGTCCTTGTGCTCCGTGACTCTAATCCGAATTGGGCCAGGTCCGGTCCTGCCTGGTGCCCAGGTTGTATCCATGAGAATTTGCCACCAGCAAGGGCAGCCACGGCCCACCTGGGACAGGGTGGGCAGTGGGCCTGTACAGGCCTAAGGGCTCGTGGCCCGCGGTCGAGTTCCGGTTCACTCCGTCTCTTCTCTTTCTCTGGGTGCCGTCCTGGAGCCTGTGTCCTGAGATGAAGCCGACAGTGCGGCCAGGGCTGCTGGGGGATGGGGGTTGCTGGAGGCTCCACACCTCTCATCCGCCCGCTCTTGCTCTTGGCCCCCACAGGTCCCCTGGGGACCTGGCCGCTGCCAGCACTGGCGGGCACAGGCCACCTGGCCATCAGACCTGAGGCCAGAGTCCCGGGAGCTGCCTCTGTCACTCCAATTCCACCTCGACACCTGCCTCCAGCCCTCGGCCCCTTCCTGAATCTTGGTGTGTGCCCCTTGGGGGTCAGTGGCCTCCACGCAGACAGCTGGTGTGGCCTGAGGGGCAACTCCTCCAGTCCTCAGAGGACTCCTCCTCCTCGGGACGCCTGTAAGCCAGGGCCACCCAGGAGCCAGGGAGCCAGGCGGACCTCCCAGGAAGAGCCAGCCGAGAGCCCCCAAGCCCAGCCCCAGCACGAGCAAGGTCAGGCCCGAGACCCCGGGCAGGAGAAGAGGCCACCCTCGAACGTCCGCTGTCGGCCCGTCTGTCCAGCACAGGGAGGCAGGCAGGAGCGAGGGCCCAAGTGGCCGGCCAGGCTGGGCAGCGGCCCATGCAGGAGCAGGCGAGGGCAGGTGTGGCCACCACCCTAGCCATCTAATCACTTATACATATTCATTTTAGGATAGAAAGAGTGGTAGAGCAGAGCCTGACCCTAAAAAGAAAGCCACATTTAGGGCTATCACCTCCACCCTGGCTTCCAGCTTCAAGAGGCGTAGGTCCTCCAAAGACACGGTAAGGGGGAGAGCACCCCAGTCCCGCGTCCGACTCCACCTGCCCTGCCCTGCGTGTGTCTCCCGCCCCATCACCCCGCCCCGGACCCTGGGCTCCTGTGGCCCACTCTGCCCCTGTCTCCCTGTGGCGGCCGCTCTGCCCAGCCCGCCCATGCTGCTCTCTCTCACTCTCTGGACCTTTCTCCCCGGCCCTCCTGGGTCCTCGGCTTTCCCCGTGTGTCTCCGTTAGTCTGCCCGCCCACCTCCCCTGCCATGACCCACACGCCATCTTGAAGCCTGTCATCTCGTTGGTCAGTCAGTCAGCCACACCACCTCTCGGGGCCAGGTCTGGGGCCCTGGGAGCCCAGCGTGGCCCCATCCTGGACTCCTCAGCTGCCGGGAGGCCACACCACTTCTCTGTTATGTCCCCGTTTCTCTCGCCTCTCCCAGAGGGGCCCGCCGCCCTCACTTCGCCCCTGCGACGGCCCTGGAGGGGGTGGCTGTGATGTCCCATCCCGTCCGTCTGTCTGGCCACTGGCCCCGCCCCCCAGACACCTGTCTCACCTG
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Task1_train_13611
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Gene GRIN1 (glutamate ionotropic receptor NMDA type subunit 1) on Chromosome 9 is altered by this variant. Does this mutation result in a disease or is it benign?
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Pathogenic; Neurodevelopmental disorder
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CCGGCGTGGGAGGGGTCTGCGAGCCAGGGCGGGGCTGGAGTGGGGTGGGGCCTGCGAGCTGGGTAGGGTCTTGGGGAGAAGACCCCCGGAGTGCTCTAGGGCGGCTTCAGTCGGGGGTACCTGTGGCGGGAGCTGGGAGGACGCTGCCTGCATGCCCGCCGGCTCTGTCGCCTCGCAGGTGAACAACAGCAACAAGAAGGAGTGGAATGGGATGATGGGCGAGCTGCTCAGCGGGCAGGCAGACATGATCGTGGCGCCGCTAACCATAAACAACGAGCGCGCGCAGTACATCGAGTTTTCCAAGCCCTTCAAGTACCAGGGCCTGACTATTCTGGTCAAGAAGGTGGGCAGGGGCCGGGTGGCGGGGTGGCGGCGGGGGGAGTCCCTGGAGGGCCCGGGCCGCGCTGACCTCGCGTCCCTCCGCAGGAGATTCCCCGGAGCACGCTGGACTCGTTCATGCAGCCGTTCCAGAGCACACTGTGGCTGCTGGTGGGGCTGTCGGTGCACGTGGTGGCCGTGATGCTGTACCTGCTGGACCGCTTCAGGTGAGCGCGACCCGGGGCTCAGACACCTCCATCTGCGGGGCGCGGAGCCGGCCAGGGGCGGGGCAGGGCCGCCTCTCCCGCCCTCTCTCCCGCCCGCCCTCTGCGCCCCGCAGCCCCTTCGGCCGGTTCAAGGTGAACAGCGAGGAGGAGGAGGAGGACGCACTGACCCTGTCCTCGGCCATGTGGTTCTCCTGGGGCGTCCTGCTCAACTCCGGCATCGGGGAAGGTAAGGCCCCGCCCGGCCCGCCTGGTCCCGCCTCGGCCCTCTAGGGTCTGACAGAGCCCCCCGCCCGCCCACAGGCGCCCCCAGAAGCTTCTCAGCGCGCATCCTGGGCATGGTGTGGGCCGGCTTTGCCATGATCATCGTGGCCTCCTACACCGCCAACCTGGCGGCCTTCCTGGTGCTGGACCGGCCGGAGGAGCGCATCACGGGCATCAACGACCCTCGGGTGAGGCCTGGCCGGGCTGGGGGAGGGAATGCGAGGTGAGCTGGGGTCGGCCTCGGTTAGGGGCCTGGGGAGCCGCCGCCGCGATCCCTGCCCTCCGACCCTGCAGCTGAGGAACCCCTCGGACAAGTTTATCTACGCCACGGTGAAGCAGAGCTCCGTGGATATCTACTTCCGGCGCCAGGTGGAGCTGAGCACCATGTACCGGCATATGGAGAAGCACAACTACGAGAGTGCGGCGGAGGCCATCCAGGCCGTGAGAGACAAGTGAGGCGCGGGCGGCCACCCTGGCGGGGCGGGACAGGTGCGGGGAGGGGGAGGGTGGCCTCCACCGGGCAGGAGAGCGTCCGGGCCGGGCACCCCGGAGGGCGCGGGCGTGGGGCTTCCAGGCTGGCAGGACCAAGGCCCCCGTGACTCCGCCTCTGCCGGCAGCAAGCTGCATGCCTTCATCTGGGACTCGGCGGTGCTGGAGTTCGAGGCCTCGCAGAAGTGCGACCTGGTGACGACTGGAGAGCTGTTTTTCCGCTCGGGCTTCGGCATAGGCATGCGCAAAGACAGCCCCTGGAAGCAGAACGTCTCCCTGTCCATCCTCAAGTGAGTGTCCGTGCGCCCGCGTCCCTCCTCCGCCCCTCTCCGCCAGAGGTGGACGCCCTCCCCAGTGCCAGACCACTCCGAGGCCACCACTGATTTCCCACCCAGGCCGGGCGCTGCCCACTCCACGCCGCACCCTACCCCGCAGGCCCCGCCCCGGCCCCGCCCCCAGCTTGCTCCTTCCCGTCCTGGGCCCCGCCTCACTGCAGGCTCACTTGTTCCCACCGCCAGGTCCCACGAGAATGGCTTCATGGAAGACCTGGACAAGACGTGGGTTCGGTATCAGGAATGTGACTCGCGCAGCAACGCCCCTGCGACCCTTACTTTTGAGAACATGGCCGGTGCGTTCTCCTTCATCCATTCTCGGGTGGGTTCTCCGTGGGCTGCGGCCTCCCTGGCCAGCAACTGAGGCTCTGGGTCCCGGCACACAGGGGTCTTCATGCTGGTAGCTGGGGGCATCGTGGCCGGGATCTTCCTGATTTTCATCGAGATTGCCTACAAGCGGCACAAGGATGCTCGCCGGAAGCAGATGCAGCTGGCCTTTGCCGCCGTTAACGTGTGGCGGAAGAACCTGCAGGTAGGGCAGGCCACCCTCCGAGGCCTGGTGCCCAGGGCCCGGCCTGGCCACGGCCCTCCTCCATCCCCGAAGGCCGTGGCACTGGCTCTGGCTCTGGTGGGCAGGACTGGAGCTAGGAGCCATGGCCAGGGGCAGTGGTGAGTGCTCCCAGGGCACGGGGGCAGCACCGGTGGGGGGCTGCCTGCAGGTGGCTGCCCACTGCAAAGCCGGGGCCGAGGGAGGCCACGCACCCTGCTCCAAGCCTCCGCCTGGCCCCTCTGTCTCCAGAGTCGCCCGCCGGTACCCATTCCATAGGAAGGCAATCAGGCAGGGTAAGACAGGGGCCCGCCTGTGTATGGCACGTGAGTCCAAGATGCATTTTGCCCTCCGCCGACCCAAGCCCCTTGACACCCTTCGGAGACCCCCCCCTTTCCTGCTATGTCCTTGTGCTCCGTGACTCTAATCCGAATTGGGCCAGGTCCGGTCCTGCCTGGTGCCCAGGTTGTATCCATGAGAATTTGCCACCAGCAAGGGCAGCCACGGCCCACCTGGGACAGGGTGGGCAGTGGGCCTGTACAGGCCTAAGGGCTCGTGGCCCGCGGTCGAGTTCCGGTTCACTCCGTCTCTTCTCTTTCTCTGGGTGCCGTCCTGGAGCCTGTGTCCTGAGATGAAGCCGACAGTGCGGCCAGGGCTGCTGGGGGATGGGGGTTGCTGGAGGCTCCACACCTCTCATCCGCCCGCTCTTGCTCTTGGCCCCCACAGGTCCCCTGGGGACCTGGCCGCTGCCAGCACTGGCGGGCACAGGCCACCTGGCCATCAGACCTGAGGCCAGAGTCCCGGGAGCTGCCTCTGTCACTCCAATTCCACCTCGACACCTGCCTCCAGCCCTCGGCCCCTTCCTGAATCTTGGTGTGTGCCCCTTGGGGGTCAGTGGCCTCCACGCAGACAGCTGGTGTGGCCTGAGGGGCAACTCCTCCAGTCCTCAGAGGACTCCTCCTCCTCGGGACGCCTGTAAGCCAGGGCCACCCAGGAGCCAGGGAGCCAGGCGGACCTCCCAGGAAGAGCCAGCCGAGAGCCCCCAAGCCCAGCCCCAGCACGAGCAAGGTCAGGCCCGAGACCCCGGGCAGGAGAAGAGGCCACCCTCGAACGTCCGCTGTCGGCCCGTCTGTCCAGCACAGGGAGGCAGGCAGGAGCGAGGGCCCAAGTGGCCGGCCAGGCTGGGCAGCGGCCCATGCAGGAGCAGGCGAGGGCAGGTGTGGCCACCACCCTAGCCATCTAATCACTTATACATATTCATTTTAGGATAGAAAGAGTGGTAGAGCAGAGCCTGACCCTAAAAAGAAAGCCACATTTAGGGCTATCACCTCCACCCTGGCTTCCAGCTTCAAGAGGCGTAGGTCCTCCAAAGACACGGTAAGGGGGAGAGCACCCCAGTCCCGCGTCCGACTCCACCTGCCCTGCCCTGCGTGTGTCTCCCGCCCCATCACCCCGCCCCGGACCCTGGGCTCCTGTGGCCCACTCTGCCCCTGTCTCCCTGTGGCGGCCGCTCTGCCCAGCCCGCCCATGCTGCTCTCTCTCACTCTCTGGACCTTTCTCCCCGGCCCTCCTGGGTCCTCGGCTTTCCCCGTGTGTCTCCGTTAGTCTGCCCGCCCACCTCCCCTGCCATGACCCACACGCCATCTTGAAGCCTGTCATCTCGTTGGTCAGTCAGTCAGCCACACCACCTCTCGGGGCCAGGTCTGGGGCCCTGGGAGCCCAGCGTGGCCCCATCCTGGACTCCTCAGCTGCCGGGAGGCCACACCACTTCTCTGTTATGTCCCCGTTTCTCTCGCCTCTCCCAGAGGGGCCCGCCGCCCTCACTTCGCCCCTGCGACGGCCCTGGAGGGGGTGGCTGTGATGTCCCATCCCGTCCGTCTGTCTGGCCACTGGCCCCGCCCCCCAGACACCTGTCTCACCTG
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CCGGCGTGGGAGGGGTCTGCGAGCCAGGGCGGGGCTGGAGTGGGGTGGGGCCTGCGAGCTGGGTAGGGTCTTGGGGAGAAGACCCCCGGAGTGCTCTAGGGCGGCTTCAGTCGGGGGTACCTGTGGCGGGAGCTGGGAGGACGCTGCCTGCATGCCCGCCGGCTCTGTCGCCTCGCAGGTGAACAACAGCAACAAGAAGGAGTGGAATGGGATGATGGGCGAGCTGCTCAGCGGGCAGGCAGACATGATCGTGGCGCCGCTAACCATAAACAACGAGCGCGCGCAGTACATCGAGTTTTCCAAGCCCTTCAAGTACCAGGGCCTGACTATTCTGGTCAAGAAGGTGGGCAGGGGCCGGGTGGCGGGGTGGCGGCGGGGGGAGTCCCTGGAGGGCCCGGGCCGCGCTGACCTCGCGTCCCTCCGCAGGAGATTCCCCGGAGCACGCTGGACTCGTTCATGCAGCCGTTCCAGAGCACACTGTGGCTGCTGGTGGGGCTGTCGGTGCACGTGGTGGCCGTGATGCTGTACCTGCTGGACCGCTTCAGGTGAGCGCGACCCGGGGCTCAGACACCTCCATCTGCGGGGCGCGGAGCCGGCCAGGGGCGGGGCAGGGCCGCCTCTCCCGCCCTCTCTCCCGCCCGCCCTCTGCGCCCCGCAGCCCCTTCGGCCGGTTCAAGGTGAACAGCGAGGAGGAGGAGGAGGACGCACTGACCCTGTCCTCGGCCATGTGGTTCTCCTGGGGCGTCCTGCTCAACTCCGGCATCGGGGAAGGTAAGGCCCCGCCCGGCCCGCCTGGTCCCGCCTCGGCCCTCTAGGGTCTGACAGAGCCCCCCGCCCGCCCACAGGCGCCCCCAGAAGCTTCTCAGCGCGCATCCTGGGCATGGTGTGGGCCGGCTTTGCCATGATCATCGTGGCCTCCTACACCGCCAACCTGGCGGCCTTCCTGGTGCTGGACCGGCCGGAGGAGCGCATCACGGGCATCAACGACCCTCGGGTGAGGCCTGGCCGGGCTGGGGGAGGGAATGCGAGGTGAGCTGGGGTCGGCCTCGGTTAGGGGCCTGGGGAGCCGCCGCCGCGATCCCTGCCCTCCGACCCTGCAGCTGAGGAACCCCTCGGACAAGTTTATCTACGCCACGGTGAAGCAGAGCTCCGTGGATATCTACTTCCGGCGCCAGGTGGAGCTGAGCACCATGTACCGGCATATGGAGAAGCACAACTACGAGAGTGCGGCGGAGGCCATCCAGGCCGTGAGAGACAAGTGAGGCGCGGGCGGCCACCCTGGCGGGGCGGGACAGGTGCGGGGAGGGGGAGGGTGGCCTCCACCGGGCAGGAGAGCGTCCGGGCCGGGCACCCCGGAGGGCGCGGGCGTGGGGCTTCCAGGCTGGCAGGACCAAGGCCCCCGTGACTCCGCCTCTGCCGGCAGCAAGCTGCATGCCTTCATCTGGGACTCGGCGGTGCTGGAGTTCGAGGCCTCGCAGAAGTGCGACCTGGTGACGACTGGAGAGCTGTTTTTCCGCTCGGGCTTCGGCATAGGCATGCGCAAAGACAGCCCCTGGAAGCAGAACGTCTCCCTGTCCATCCTCAAGTGAGTGTCCGTGCGCCCGCGTCCCTCCTCCGCCCCTCTCCGCCAGAGGTGGACGCCCTCCCCAGTGCCAGACCACTCCGAGGCCACCACTGATTTCCCACCCAGGCCGGGCGCTGCCCACTCCACGCCGCACCCTACCCCGCAGGCCCCGCCCCGGCCCCGCCCCCAGCTTGCTCCTTCCCGTCCTGGGCCCCGCCTCACTGCAGGCTCACTTGTTCCCACCGCCAGGTCCCACGAGAATGGCTTCATGGAAGACCTGGACAAGACGTGGGTTCGGTATCAGGAATGTGACTCGCGCAGCAACGCCCCTGCGACCCTTACTTTTGAGAACATGGCCGGTGCGTTCTCCTTCATCCATTCTCGGGTGGGTTCTCCGTGGGCTGCGGCCTCCCTGGCCAGCAACTGAGGCTCTGGGTCCCGGCACACAGGGGTCTTCATGCTGGTAGCTGGGGGCATCGTGGCCAGGATCTTCCTGATTTTCATCGAGATTGCCTACAAGCGGCACAAGGATGCTCGCCGGAAGCAGATGCAGCTGGCCTTTGCCGCCGTTAACGTGTGGCGGAAGAACCTGCAGGTAGGGCAGGCCACCCTCCGAGGCCTGGTGCCCAGGGCCCGGCCTGGCCACGGCCCTCCTCCATCCCCGAAGGCCGTGGCACTGGCTCTGGCTCTGGTGGGCAGGACTGGAGCTAGGAGCCATGGCCAGGGGCAGTGGTGAGTGCTCCCAGGGCACGGGGGCAGCACCGGTGGGGGGCTGCCTGCAGGTGGCTGCCCACTGCAAAGCCGGGGCCGAGGGAGGCCACGCACCCTGCTCCAAGCCTCCGCCTGGCCCCTCTGTCTCCAGAGTCGCCCGCCGGTACCCATTCCATAGGAAGGCAATCAGGCAGGGTAAGACAGGGGCCCGCCTGTGTATGGCACGTGAGTCCAAGATGCATTTTGCCCTCCGCCGACCCAAGCCCCTTGACACCCTTCGGAGACCCCCCCCTTTCCTGCTATGTCCTTGTGCTCCGTGACTCTAATCCGAATTGGGCCAGGTCCGGTCCTGCCTGGTGCCCAGGTTGTATCCATGAGAATTTGCCACCAGCAAGGGCAGCCACGGCCCACCTGGGACAGGGTGGGCAGTGGGCCTGTACAGGCCTAAGGGCTCGTGGCCCGCGGTCGAGTTCCGGTTCACTCCGTCTCTTCTCTTTCTCTGGGTGCCGTCCTGGAGCCTGTGTCCTGAGATGAAGCCGACAGTGCGGCCAGGGCTGCTGGGGGATGGGGGTTGCTGGAGGCTCCACACCTCTCATCCGCCCGCTCTTGCTCTTGGCCCCCACAGGTCCCCTGGGGACCTGGCCGCTGCCAGCACTGGCGGGCACAGGCCACCTGGCCATCAGACCTGAGGCCAGAGTCCCGGGAGCTGCCTCTGTCACTCCAATTCCACCTCGACACCTGCCTCCAGCCCTCGGCCCCTTCCTGAATCTTGGTGTGTGCCCCTTGGGGGTCAGTGGCCTCCACGCAGACAGCTGGTGTGGCCTGAGGGGCAACTCCTCCAGTCCTCAGAGGACTCCTCCTCCTCGGGACGCCTGTAAGCCAGGGCCACCCAGGAGCCAGGGAGCCAGGCGGACCTCCCAGGAAGAGCCAGCCGAGAGCCCCCAAGCCCAGCCCCAGCACGAGCAAGGTCAGGCCCGAGACCCCGGGCAGGAGAAGAGGCCACCCTCGAACGTCCGCTGTCGGCCCGTCTGTCCAGCACAGGGAGGCAGGCAGGAGCGAGGGCCCAAGTGGCCGGCCAGGCTGGGCAGCGGCCCATGCAGGAGCAGGCGAGGGCAGGTGTGGCCACCACCCTAGCCATCTAATCACTTATACATATTCATTTTAGGATAGAAAGAGTGGTAGAGCAGAGCCTGACCCTAAAAAGAAAGCCACATTTAGGGCTATCACCTCCACCCTGGCTTCCAGCTTCAAGAGGCGTAGGTCCTCCAAAGACACGGTAAGGGGGAGAGCACCCCAGTCCCGCGTCCGACTCCACCTGCCCTGCCCTGCGTGTGTCTCCCGCCCCATCACCCCGCCCCGGACCCTGGGCTCCTGTGGCCCACTCTGCCCCTGTCTCCCTGTGGCGGCCGCTCTGCCCAGCCCGCCCATGCTGCTCTCTCTCACTCTCTGGACCTTTCTCCCCGGCCCTCCTGGGTCCTCGGCTTTCCCCGTGTGTCTCCGTTAGTCTGCCCGCCCACCTCCCCTGCCATGACCCACACGCCATCTTGAAGCCTGTCATCTCGTTGGTCAGTCAGTCAGCCACACCACCTCTCGGGGCCAGGTCTGGGGCCCTGGGAGCCCAGCGTGGCCCCATCCTGGACTCCTCAGCTGCCGGGAGGCCACACCACTTCTCTGTTATGTCCCCGTTTCTCTCGCCTCTCCCAGAGGGGCCCGCCGCCCTCACTTCGCCCCTGCGACGGCCCTGGAGGGGGTGGCTGTGATGTCCCATCCCGTCCGTCTGTCTGGCCACTGGCCCCGCCCCCCAGACACCTGTCTCACCTG
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Task1_train_13612
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Consider a variant on Chromosome 9 in gene GRIN1 (glutamate ionotropic receptor NMDA type subunit 1). Determine its clinical classification and disease relevance.
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Pathogenic; Self-limited epilepsy with centrotemporal spikes
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AGGGCGGGGCTGGAGTGGGGTGGGGCCTGCGAGCTGGGTAGGGTCTTGGGGAGAAGACCCCCGGAGTGCTCTAGGGCGGCTTCAGTCGGGGGTACCTGTGGCGGGAGCTGGGAGGACGCTGCCTGCATGCCCGCCGGCTCTGTCGCCTCGCAGGTGAACAACAGCAACAAGAAGGAGTGGAATGGGATGATGGGCGAGCTGCTCAGCGGGCAGGCAGACATGATCGTGGCGCCGCTAACCATAAACAACGAGCGCGCGCAGTACATCGAGTTTTCCAAGCCCTTCAAGTACCAGGGCCTGACTATTCTGGTCAAGAAGGTGGGCAGGGGCCGGGTGGCGGGGTGGCGGCGGGGGGAGTCCCTGGAGGGCCCGGGCCGCGCTGACCTCGCGTCCCTCCGCAGGAGATTCCCCGGAGCACGCTGGACTCGTTCATGCAGCCGTTCCAGAGCACACTGTGGCTGCTGGTGGGGCTGTCGGTGCACGTGGTGGCCGTGATGCTGTACCTGCTGGACCGCTTCAGGTGAGCGCGACCCGGGGCTCAGACACCTCCATCTGCGGGGCGCGGAGCCGGCCAGGGGCGGGGCAGGGCCGCCTCTCCCGCCCTCTCTCCCGCCCGCCCTCTGCGCCCCGCAGCCCCTTCGGCCGGTTCAAGGTGAACAGCGAGGAGGAGGAGGAGGACGCACTGACCCTGTCCTCGGCCATGTGGTTCTCCTGGGGCGTCCTGCTCAACTCCGGCATCGGGGAAGGTAAGGCCCCGCCCGGCCCGCCTGGTCCCGCCTCGGCCCTCTAGGGTCTGACAGAGCCCCCCGCCCGCCCACAGGCGCCCCCAGAAGCTTCTCAGCGCGCATCCTGGGCATGGTGTGGGCCGGCTTTGCCATGATCATCGTGGCCTCCTACACCGCCAACCTGGCGGCCTTCCTGGTGCTGGACCGGCCGGAGGAGCGCATCACGGGCATCAACGACCCTCGGGTGAGGCCTGGCCGGGCTGGGGGAGGGAATGCGAGGTGAGCTGGGGTCGGCCTCGGTTAGGGGCCTGGGGAGCCGCCGCCGCGATCCCTGCCCTCCGACCCTGCAGCTGAGGAACCCCTCGGACAAGTTTATCTACGCCACGGTGAAGCAGAGCTCCGTGGATATCTACTTCCGGCGCCAGGTGGAGCTGAGCACCATGTACCGGCATATGGAGAAGCACAACTACGAGAGTGCGGCGGAGGCCATCCAGGCCGTGAGAGACAAGTGAGGCGCGGGCGGCCACCCTGGCGGGGCGGGACAGGTGCGGGGAGGGGGAGGGTGGCCTCCACCGGGCAGGAGAGCGTCCGGGCCGGGCACCCCGGAGGGCGCGGGCGTGGGGCTTCCAGGCTGGCAGGACCAAGGCCCCCGTGACTCCGCCTCTGCCGGCAGCAAGCTGCATGCCTTCATCTGGGACTCGGCGGTGCTGGAGTTCGAGGCCTCGCAGAAGTGCGACCTGGTGACGACTGGAGAGCTGTTTTTCCGCTCGGGCTTCGGCATAGGCATGCGCAAAGACAGCCCCTGGAAGCAGAACGTCTCCCTGTCCATCCTCAAGTGAGTGTCCGTGCGCCCGCGTCCCTCCTCCGCCCCTCTCCGCCAGAGGTGGACGCCCTCCCCAGTGCCAGACCACTCCGAGGCCACCACTGATTTCCCACCCAGGCCGGGCGCTGCCCACTCCACGCCGCACCCTACCCCGCAGGCCCCGCCCCGGCCCCGCCCCCAGCTTGCTCCTTCCCGTCCTGGGCCCCGCCTCACTGCAGGCTCACTTGTTCCCACCGCCAGGTCCCACGAGAATGGCTTCATGGAAGACCTGGACAAGACGTGGGTTCGGTATCAGGAATGTGACTCGCGCAGCAACGCCCCTGCGACCCTTACTTTTGAGAACATGGCCGGTGCGTTCTCCTTCATCCATTCTCGGGTGGGTTCTCCGTGGGCTGCGGCCTCCCTGGCCAGCAACTGAGGCTCTGGGTCCCGGCACACAGGGGTCTTCATGCTGGTAGCTGGGGGCATCGTGGCCGGGATCTTCCTGATTTTCATCGAGATTGCCTACAAGCGGCACAAGGATGCTCGCCGGAAGCAGATGCAGCTGGCCTTTGCCGCCGTTAACGTGTGGCGGAAGAACCTGCAGGTAGGGCAGGCCACCCTCCGAGGCCTGGTGCCCAGGGCCCGGCCTGGCCACGGCCCTCCTCCATCCCCGAAGGCCGTGGCACTGGCTCTGGCTCTGGTGGGCAGGACTGGAGCTAGGAGCCATGGCCAGGGGCAGTGGTGAGTGCTCCCAGGGCACGGGGGCAGCACCGGTGGGGGGCTGCCTGCAGGTGGCTGCCCACTGCAAAGCCGGGGCCGAGGGAGGCCACGCACCCTGCTCCAAGCCTCCGCCTGGCCCCTCTGTCTCCAGAGTCGCCCGCCGGTACCCATTCCATAGGAAGGCAATCAGGCAGGGTAAGACAGGGGCCCGCCTGTGTATGGCACGTGAGTCCAAGATGCATTTTGCCCTCCGCCGACCCAAGCCCCTTGACACCCTTCGGAGACCCCCCCCTTTCCTGCTATGTCCTTGTGCTCCGTGACTCTAATCCGAATTGGGCCAGGTCCGGTCCTGCCTGGTGCCCAGGTTGTATCCATGAGAATTTGCCACCAGCAAGGGCAGCCACGGCCCACCTGGGACAGGGTGGGCAGTGGGCCTGTACAGGCCTAAGGGCTCGTGGCCCGCGGTCGAGTTCCGGTTCACTCCGTCTCTTCTCTTTCTCTGGGTGCCGTCCTGGAGCCTGTGTCCTGAGATGAAGCCGACAGTGCGGCCAGGGCTGCTGGGGGATGGGGGTTGCTGGAGGCTCCACACCTCTCATCCGCCCGCTCTTGCTCTTGGCCCCCACAGGTCCCCTGGGGACCTGGCCGCTGCCAGCACTGGCGGGCACAGGCCACCTGGCCATCAGACCTGAGGCCAGAGTCCCGGGAGCTGCCTCTGTCACTCCAATTCCACCTCGACACCTGCCTCCAGCCCTCGGCCCCTTCCTGAATCTTGGTGTGTGCCCCTTGGGGGTCAGTGGCCTCCACGCAGACAGCTGGTGTGGCCTGAGGGGCAACTCCTCCAGTCCTCAGAGGACTCCTCCTCCTCGGGACGCCTGTAAGCCAGGGCCACCCAGGAGCCAGGGAGCCAGGCGGACCTCCCAGGAAGAGCCAGCCGAGAGCCCCCAAGCCCAGCCCCAGCACGAGCAAGGTCAGGCCCGAGACCCCGGGCAGGAGAAGAGGCCACCCTCGAACGTCCGCTGTCGGCCCGTCTGTCCAGCACAGGGAGGCAGGCAGGAGCGAGGGCCCAAGTGGCCGGCCAGGCTGGGCAGCGGCCCATGCAGGAGCAGGCGAGGGCAGGTGTGGCCACCACCCTAGCCATCTAATCACTTATACATATTCATTTTAGGATAGAAAGAGTGGTAGAGCAGAGCCTGACCCTAAAAAGAAAGCCACATTTAGGGCTATCACCTCCACCCTGGCTTCCAGCTTCAAGAGGCGTAGGTCCTCCAAAGACACGGTAAGGGGGAGAGCACCCCAGTCCCGCGTCCGACTCCACCTGCCCTGCCCTGCGTGTGTCTCCCGCCCCATCACCCCGCCCCGGACCCTGGGCTCCTGTGGCCCACTCTGCCCCTGTCTCCCTGTGGCGGCCGCTCTGCCCAGCCCGCCCATGCTGCTCTCTCTCACTCTCTGGACCTTTCTCCCCGGCCCTCCTGGGTCCTCGGCTTTCCCCGTGTGTCTCCGTTAGTCTGCCCGCCCACCTCCCCTGCCATGACCCACACGCCATCTTGAAGCCTGTCATCTCGTTGGTCAGTCAGTCAGCCACACCACCTCTCGGGGCCAGGTCTGGGGCCCTGGGAGCCCAGCGTGGCCCCATCCTGGACTCCTCAGCTGCCGGGAGGCCACACCACTTCTCTGTTATGTCCCCGTTTCTCTCGCCTCTCCCAGAGGGGCCCGCCGCCCTCACTTCGCCCCTGCGACGGCCCTGGAGGGGGTGGCTGTGATGTCCCATCCCGTCCGTCTGTCTGGCCACTGGCCCCGCCCCCCAGACACCTGTCTCACCTGTCTCACCAGAGCCATGCGTGTTGCA
|
AGGGCGGGGCTGGAGTGGGGTGGGGCCTGCGAGCTGGGTAGGGTCTTGGGGAGAAGACCCCCGGAGTGCTCTAGGGCGGCTTCAGTCGGGGGTACCTGTGGCGGGAGCTGGGAGGACGCTGCCTGCATGCCCGCCGGCTCTGTCGCCTCGCAGGTGAACAACAGCAACAAGAAGGAGTGGAATGGGATGATGGGCGAGCTGCTCAGCGGGCAGGCAGACATGATCGTGGCGCCGCTAACCATAAACAACGAGCGCGCGCAGTACATCGAGTTTTCCAAGCCCTTCAAGTACCAGGGCCTGACTATTCTGGTCAAGAAGGTGGGCAGGGGCCGGGTGGCGGGGTGGCGGCGGGGGGAGTCCCTGGAGGGCCCGGGCCGCGCTGACCTCGCGTCCCTCCGCAGGAGATTCCCCGGAGCACGCTGGACTCGTTCATGCAGCCGTTCCAGAGCACACTGTGGCTGCTGGTGGGGCTGTCGGTGCACGTGGTGGCCGTGATGCTGTACCTGCTGGACCGCTTCAGGTGAGCGCGACCCGGGGCTCAGACACCTCCATCTGCGGGGCGCGGAGCCGGCCAGGGGCGGGGCAGGGCCGCCTCTCCCGCCCTCTCTCCCGCCCGCCCTCTGCGCCCCGCAGCCCCTTCGGCCGGTTCAAGGTGAACAGCGAGGAGGAGGAGGAGGACGCACTGACCCTGTCCTCGGCCATGTGGTTCTCCTGGGGCGTCCTGCTCAACTCCGGCATCGGGGAAGGTAAGGCCCCGCCCGGCCCGCCTGGTCCCGCCTCGGCCCTCTAGGGTCTGACAGAGCCCCCCGCCCGCCCACAGGCGCCCCCAGAAGCTTCTCAGCGCGCATCCTGGGCATGGTGTGGGCCGGCTTTGCCATGATCATCGTGGCCTCCTACACCGCCAACCTGGCGGCCTTCCTGGTGCTGGACCGGCCGGAGGAGCGCATCACGGGCATCAACGACCCTCGGGTGAGGCCTGGCCGGGCTGGGGGAGGGAATGCGAGGTGAGCTGGGGTCGGCCTCGGTTAGGGGCCTGGGGAGCCGCCGCCGCGATCCCTGCCCTCCGACCCTGCAGCTGAGGAACCCCTCGGACAAGTTTATCTACGCCACGGTGAAGCAGAGCTCCGTGGATATCTACTTCCGGCGCCAGGTGGAGCTGAGCACCATGTACCGGCATATGGAGAAGCACAACTACGAGAGTGCGGCGGAGGCCATCCAGGCCGTGAGAGACAAGTGAGGCGCGGGCGGCCACCCTGGCGGGGCGGGACAGGTGCGGGGAGGGGGAGGGTGGCCTCCACCGGGCAGGAGAGCGTCCGGGCCGGGCACCCCGGAGGGCGCGGGCGTGGGGCTTCCAGGCTGGCAGGACCAAGGCCCCCGTGACTCCGCCTCTGCCGGCAGCAAGCTGCATGCCTTCATCTGGGACTCGGCGGTGCTGGAGTTCGAGGCCTCGCAGAAGTGCGACCTGGTGACGACTGGAGAGCTGTTTTTCCGCTCGGGCTTCGGCATAGGCATGCGCAAAGACAGCCCCTGGAAGCAGAACGTCTCCCTGTCCATCCTCAAGTGAGTGTCCGTGCGCCCGCGTCCCTCCTCCGCCCCTCTCCGCCAGAGGTGGACGCCCTCCCCAGTGCCAGACCACTCCGAGGCCACCACTGATTTCCCACCCAGGCCGGGCGCTGCCCACTCCACGCCGCACCCTACCCCGCAGGCCCCGCCCCGGCCCCGCCCCCAGCTTGCTCCTTCCCGTCCTGGGCCCCGCCTCACTGCAGGCTCACTTGTTCCCACCGCCAGGTCCCACGAGAATGGCTTCATGGAAGACCTGGACAAGACGTGGGTTCGGTATCAGGAATGTGACTCGCGCAGCAACGCCCCTGCGACCCTTACTTTTGAGAACATGGCCGGTGCGTTCTCCTTCATCCATTCTCGGGTGGGTTCTCCGTGGGCTGCGGCCTCCCTGGCCAGCAACTGAGGCTCTGGGTCCCGGCACACAGGGGTCTTCATGCTGGTAGCTGGGGGCATCGTGGCCGGGATCTTCCTGATTTTCATCGAGACTGCCTACAAGCGGCACAAGGATGCTCGCCGGAAGCAGATGCAGCTGGCCTTTGCCGCCGTTAACGTGTGGCGGAAGAACCTGCAGGTAGGGCAGGCCACCCTCCGAGGCCTGGTGCCCAGGGCCCGGCCTGGCCACGGCCCTCCTCCATCCCCGAAGGCCGTGGCACTGGCTCTGGCTCTGGTGGGCAGGACTGGAGCTAGGAGCCATGGCCAGGGGCAGTGGTGAGTGCTCCCAGGGCACGGGGGCAGCACCGGTGGGGGGCTGCCTGCAGGTGGCTGCCCACTGCAAAGCCGGGGCCGAGGGAGGCCACGCACCCTGCTCCAAGCCTCCGCCTGGCCCCTCTGTCTCCAGAGTCGCCCGCCGGTACCCATTCCATAGGAAGGCAATCAGGCAGGGTAAGACAGGGGCCCGCCTGTGTATGGCACGTGAGTCCAAGATGCATTTTGCCCTCCGCCGACCCAAGCCCCTTGACACCCTTCGGAGACCCCCCCCTTTCCTGCTATGTCCTTGTGCTCCGTGACTCTAATCCGAATTGGGCCAGGTCCGGTCCTGCCTGGTGCCCAGGTTGTATCCATGAGAATTTGCCACCAGCAAGGGCAGCCACGGCCCACCTGGGACAGGGTGGGCAGTGGGCCTGTACAGGCCTAAGGGCTCGTGGCCCGCGGTCGAGTTCCGGTTCACTCCGTCTCTTCTCTTTCTCTGGGTGCCGTCCTGGAGCCTGTGTCCTGAGATGAAGCCGACAGTGCGGCCAGGGCTGCTGGGGGATGGGGGTTGCTGGAGGCTCCACACCTCTCATCCGCCCGCTCTTGCTCTTGGCCCCCACAGGTCCCCTGGGGACCTGGCCGCTGCCAGCACTGGCGGGCACAGGCCACCTGGCCATCAGACCTGAGGCCAGAGTCCCGGGAGCTGCCTCTGTCACTCCAATTCCACCTCGACACCTGCCTCCAGCCCTCGGCCCCTTCCTGAATCTTGGTGTGTGCCCCTTGGGGGTCAGTGGCCTCCACGCAGACAGCTGGTGTGGCCTGAGGGGCAACTCCTCCAGTCCTCAGAGGACTCCTCCTCCTCGGGACGCCTGTAAGCCAGGGCCACCCAGGAGCCAGGGAGCCAGGCGGACCTCCCAGGAAGAGCCAGCCGAGAGCCCCCAAGCCCAGCCCCAGCACGAGCAAGGTCAGGCCCGAGACCCCGGGCAGGAGAAGAGGCCACCCTCGAACGTCCGCTGTCGGCCCGTCTGTCCAGCACAGGGAGGCAGGCAGGAGCGAGGGCCCAAGTGGCCGGCCAGGCTGGGCAGCGGCCCATGCAGGAGCAGGCGAGGGCAGGTGTGGCCACCACCCTAGCCATCTAATCACTTATACATATTCATTTTAGGATAGAAAGAGTGGTAGAGCAGAGCCTGACCCTAAAAAGAAAGCCACATTTAGGGCTATCACCTCCACCCTGGCTTCCAGCTTCAAGAGGCGTAGGTCCTCCAAAGACACGGTAAGGGGGAGAGCACCCCAGTCCCGCGTCCGACTCCACCTGCCCTGCCCTGCGTGTGTCTCCCGCCCCATCACCCCGCCCCGGACCCTGGGCTCCTGTGGCCCACTCTGCCCCTGTCTCCCTGTGGCGGCCGCTCTGCCCAGCCCGCCCATGCTGCTCTCTCTCACTCTCTGGACCTTTCTCCCCGGCCCTCCTGGGTCCTCGGCTTTCCCCGTGTGTCTCCGTTAGTCTGCCCGCCCACCTCCCCTGCCATGACCCACACGCCATCTTGAAGCCTGTCATCTCGTTGGTCAGTCAGTCAGCCACACCACCTCTCGGGGCCAGGTCTGGGGCCCTGGGAGCCCAGCGTGGCCCCATCCTGGACTCCTCAGCTGCCGGGAGGCCACACCACTTCTCTGTTATGTCCCCGTTTCTCTCGCCTCTCCCAGAGGGGCCCGCCGCCCTCACTTCGCCCCTGCGACGGCCCTGGAGGGGGTGGCTGTGATGTCCCATCCCGTCCGTCTGTCTGGCCACTGGCCCCGCCCCCCAGACACCTGTCTCACCTGTCTCACCAGAGCCATGCGTGTTGCA
|
Task1_train_13613
|
This mutation occurs in SLC34A3 (solute carrier family 34 member 3) on Chromosome 9. Does this change lead to a known medical condition, or is it benign?
|
Pathogenic; Autosomal recessive hypophosphatemic bone disease
|
AAGGCAGCAGCTTCGGGGCCAGGAGCCTTGAAGTGGTGTGAGGACCCCACCTGCTCCCCATCACCAGGGCGTGGGGCCCTTATCAAGCCGAGACGTCACTGTTTAGTATCAAATGCCAAAGTCTAAGTCGGGACCATCCACAGTGTCCCCGATGACACCAGATAGGGGAGGTCCCCAGGTTCCCCAGCTCATGGCCTGCACCCTCGGCACTAGCCTTCCAGTCAGGACCAGCAAGGGAGCCGGGGAGCTGGAGCCCCTTCGAGTCTACCCCTGAAACTGGACTGGGCTCGCCTGACAACTGCCTGAGGTCATTGTAGCCATCCCCCTGTGGATGGAGAAAGGGGGATGGTCACTGAGGCCTGCAGGGCGTAGAGAGGGAGGGTGGCGGCCAAGGGCTCAATTCAGGGGACCCAGGGGTGTGAATCCAGCTTGTGAGGACAGGGCCGGGGCAGGAGGAAATGTCTCTGACACGCGCGTCCCCCCCAGCAGATCTAGACCTGGGCCTGGGTCTGTCCCTGCCCGAAATCCATGCCGAGTTCCCTTCCCGGCAGCCAGGTCCCCCACCCCACTCTGGACGCGGTTGACCTAGTGGAAAAGACTCTGAGGAATGAAGGTACCAGTGGCCCCTGTGCCCCAGGCCTTCACCAGTCTGACCACCCACCCCCCAGGCACTGGGCAGAGACAGGCCAGGTTTCCTGCGGGCCTCCCGGGGAACCCACAGGGCTCATGACGCCTCCACTCAGGTCCAGCCCAGCTGGAGCCCCATCTTCCCCGTTCCGTTTCTGTCCCTCACTCCAGGCCTCTTACGCCTCAGCCCGTCCTCCGGCCTGTGCCCTTGTGCCCCCAGTTGGAGGGAGGTGGTCCTGGAAACAGCCGTACTCAATTCTACCTCCACAGGGACCTCCAGTTCTGCTCCAGTCTTGGAGGAAGGGGACACAGACCCCTGGACCCTCCCTCAGCTGAAGGACACAAGCCAGCCCTGGAAAGGTGGGTCTGGAGGTTCCGGGGGTGGCAGGCTGGCAGGCCTCTGTCCCCAACGGGACTGGGGAGACAGAGCAGGGTGGGGCCTGCCCAAACAGGCTGTGTGTGGGGAACTCCGCCATGCAGGCCCCCTCTGGGGAGACACGTGTCCCTCAACCGGGTGTCTGTGCTGTCCTGGGGCAGACCGGCCACCTCTGCCCATCCGTCCCTCCCCTCCTGCTCCTGCGAGGGAGGGTCCCAAGGGCTTCTGGCTTGGAAAGGCAGGAACCCGGGCCCTGCCCTGGGGGTTACGGAAGAGGAGGAAATGGGACCCAGCCCTGTTGGAGACAGAGGAGAGAGGGGGCAGAGAATGAGGGGCCTGGGAGGGAGACCTGTCAGGGTGGAGGGCCAGCCAGGGACAGCCTGCCCTGTGTCCTCAGAGCTCCGCGTGGCCGGCAGGCTGCGCCGCGTGGCCGGCAGCGTCCTCAAGGCCTGCGGGCTCCTCGGCAGCCTGTACTTCTTCATCTGCTCTCTGGACGTCCTCAGCTCCGCCTTCCAGCTGCTGGGCAGTGAGTGACGGGACGGGTGCCCAGGGCGGGGCGGGCAACCAGCCCTCCGCAGCTTCAGCGCACCTCTCTTGCCGGTGTAGGCAAAGTGGCCGGAGACATCTTCAAGGACAACGTGGTGCTGTCCAACCCTGTGGCTGGACTGGTCATTGGCGTGCTGGTCACAGCCCTGGTGCAGAGTTCCAGCACGTCCTCCTCCATCGTGGTCAGCATGGTGGCTGCTAAGCGTGGGTGCACACTCCCTCCCCGGGTGGTGGGGGGGGCAGGGTGGGCCGCAGGCTGACTCAGCCCCCCCACCAGCAGTGCTGACTGTCCGGGTGTCTGTGCCCATCATCATGGGTGTCAACGTAGGCACATCCATCACCAGCACCCTGGTCTCAATGGCGCAGTCAGGGGACCGGGATGAATTTCAGAGGTGAGTTGTGGGTGGAAGGGCTGGGCTGGGGCTGCAGTGGCAGCCCCAGCCCGGGCCCCCCCACCTGACCCTGCCCACTCTCTGCGGCCACAGGGCTTTCAGCGGCTCGGCGGTGCACGGGATCTTCAACTGGCTCACAGTGCTGGTCCTGCTGCCACTGGAGAGCGCCACGGCCCTGCTGGAGAGGCTAAGTGAGCTAGCCCTGGGTGCCGCCAGCCTGACACCCAGGGCGCAGGCGCCCGACATCCTCAAGGTGCTGACGAAGCCGCTCACACACCTCATCGTGCAGGTGAGGACGGCCACCGCCCCCGCCCAGAGAGCCTGAGCAGGCCGGATGGGAGGAGGGGAGGCCCGCCCTGCCCTGATGGAGGGTCAGCGGAGGGTCTGGGCCCTGTCCTGGGACAGGGGAGGAGAGGGCAGCAGTGGGCAGGGCTGGGCTGGACCCCGCGGGCGCCAGAGCCCCGGGTGAGTCCTGAGAGAGGGTGCAGCACACCGTCACGACCCCTCTGGCCCCCAGTTGGACTCCGACATGATCATGAGCAGTGCCACAGGCAACGCCACTAACAGCAGTCTCATTAAGCACTGGTGCGGCACCACGGGGCAGCCGGTGAGGCACCCAACCCTAGGCCCTCACTGACCCCCAACCTCCCACCTGCTGAGTCATCCCGCCCCACCCACCCTCACCTCGAGCCCTCTGACCTCTGTCTGCCCACTGAGCCTGTCCTGAGTCCTCCCTGCCCTCCCCAGACCCAGGAGAACAGCAGCTGTGGCGCCTTCGGCCCGTGCACAGAGAAGAACAGCACAGCCCCGGCGGACAGGCTGCCCTGTGAGGCCCGGCCCACCCCAAGCCCCCTACACCCCCCACACTCCCCCTCACCGGCCCCTACATGGAGAGGAACAGCACAGCCCCGGCGGACAGGCTGCCCTGTGAGGCCCGGCCCACCCCGGCCCACCCCCCAGGCTCCCCCTCACCTGCCCCTGCCCTGCCCCCAGGCCGCCACCTGTTTGCGGGCACGGAGCTCACGGACCTGGCCGTGGGCTGCATCCTGCTGGCCGGCTCCCTGCTGGTGCTCTGCGGCTGCCTGGTCCTCATAGTCAAGCTGCTCAACTCTGTGCTGCGCGGCCGCGTGGCCCAGGTCGTGAGGACAGTCATCAATGCGGGTGAGGGCGTGGGAGGAGGTGCGGTGGCCAGGGCTGACCCAGCATCCCCCATAGACTTCCCCTTCCCACCAGGCTGACTCGGGGGCTACCTGGCCCTCCTTGTGGGCGCTGGCCAGGGCTGACCCGGCATCCCCCACAGACTTCCCCTTCCCGCTGGGCTGGCTCGGCGGCTACCTGGCCGTCCTCGCGGGCGCCGGCCTGACCTTCGCACTGCAGAGCAGCAGCGTCTTCACGGCGGCCGTCGTGCCCCTCATGGGTGAGCAGGCAGGACAGAGGCCTCGGGAACGGGGGCTCGGGCTGGGGTCCTGTGGTGACTCCCAGTTCCCCCAGGGGTCGGGGTGATCAGTCTGGACCGGGCGTACCCCCTCTTACTGGGCTCCAACATCGGCACCACTACCACAGCCCTGCTGGCTGCCCTGGCCAGCCCCGCAGACAGGATGCTCAGCGCCCTGCAGGTACTGTCCACCCTGCCCCGCTGCCAGAACTGGCCAGCTTCCTCTCAGCCCCACAGACAGGAGTGTGTCACCAGCCCCGGGGCCCTAGGCTGGCTGTGCCCCCGCCTTCCTGGACCCCTTCCCTGGCCGCCAGCCTCAGCCCTGCTGCTCTGCCTCCTTGGACCCCACAGGTCCTGCACACATTTCACACCCTCCCTGCGTCTCCTCCCTTGAGACCTCCTCACTTCCACATTTTCTCAGCTCTTTGCTGTGTCCCTGGGGGCCTGCCCCCAGCATCTCAGGGGGCTCTAAGCCCCTCTATTCCAGCACCCTCAGATGCTTTCCCCCAACCCCTGCTCCCTCAAGGAGCAGCCACTCACCTCCAGCAGGTCCCCATCTGGACGACCCTCCCAGCCCCCATTCCACATCTGCAAAGGCCGAGTCCCACCGATGCTGGGCCCTGCCCTGCCGCTGCCAGGGCTGTGATTCTGCCTCCAGGACACTTCCCCCAGTCTGAGCCCCCAGCTCTGTGCCCCAACCCCAGTCTCATTTAGTCCAGC
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AAGGCAGCAGCTTCGGGGCCAGGAGCCTTGAAGTGGTGTGAGGACCCCACCTGCTCCCCATCACCAGGGCGTGGGGCCCTTATCAAGCCGAGACGTCACTGTTTAGTATCAAATGCCAAAGTCTAAGTCGGGACCATCCACAGTGTCCCCGATGACACCAGATAGGGGAGGTCCCCAGGTTCCCCAGCTCATGGCCTGCACCCTCGGCACTAGCCTTCCAGTCAGGACCAGCAAGGGAGCCGGGGAGCTGGAGCCCCTTCGAGTCTACCCCTGAAACTGGACTGGGCTCGCCTGACAACTGCCTGAGGTCATTGTAGCCATCCCCCTGTGGATGGAGAAAGGGGGATGGTCACTGAGGCCTGCAGGGCGTAGAGAGGGAGGGTGGCGGCCAAGGGCTCAATTCAGGGGACCCAGGGGTGTGAATCCAGCTTGTGAGGACAGGGCCGGGGCAGGAGGAAATGTCTCTGACACGCGCGTCCCCCCCAGCAGATCTAGACCTGGGCCTGGGTCTGTCCCTGCCCGAAATCCATGCCGAGTTCCCTTCCCGGCAGCCAGGTCCCCCACCCCACTCTGGACGCGGTTGACCTAGTGGAAAAGACTCTGAGGAATGAAGGTACCAGTGGCCCCTGTGCCCCAGGCCTTCACCAGTCTGACCACCCACCCCCCAGGCACTGGGCAGAGACAGGCCAGGTTTCCTGCGGGCCTCCCGGGGAACCCACAGGGCTCATGACGCCTCCACTCAGGTCCAGCCCAGCTGGAGCCCCATCTTCCCCGTTCCGTTTCTGTCCCTCACTCCAGGCCTCTTACGCCTCAGCCCGTCCTCCGGCCTGTGCCCTTGTGCCCCCAGTTGGAGGGAGGTGGTCCTGGAAACAGCCGTACTCAATTCTACCTCCACAGGGACCTCCAGTTCTGCTCCAGTCTTGGAGGAAGGGGACACAGACCCCTGGACCCTCCCTCAGCTGAAGGACACAAGCCAGCCCTGGAAAGGTGGGTCTGGAGGTTCCGGGGGTGGCAGGCTGGCAGGCCTCTGTCCCCAACGGGACTGGGGAGACAGAGCAGGGTGGGGCCTGCCCAAACAGGCTGTGTGTGGGGAACTCCGCCATGCAGGCCCCCTCTGGGGAGACACGTGTCCCTCAACCGGGTGTCTGTGCTGTCCTGGGGCAGACCGGCCACCTCTGCCCATCCGTCCCTCCCCTCCTGCTCCTGCGAGGGAGGGTCCCAAGGGCTTCTGGCTTGGAAAGGCAGGAACCCGGGCCCTGCCCTGGGGGTTACGGAAGAGGAGGAAATGGGACCCAGCCCTGTTGGAGACAGAGGAGAGAGGGGGCAGAGAATGAGGGGCCTGGGAGGGAGACCTGTCAGGGTGGAGGGCCAGCCAGGGACAGCCTGCCCTGTGTCCTCAGAGCTCCGCGTGGCCGGCAGGCTGCGCCGCGTGGCCGGCAGCGTCCTCAAGGCCTGCGGGCTCCTCGGCAGCCTGTACTTCTTCATCTGCTCTCTGGACGTCCTCAGCTCCGCCTTCCAGCTGCTGGGCAGTGAGTGACGGGACGGGTGCCCAGGGCGGGGCGGGCAACCAGCCCTCCGCAGCTTCAGCGCACCTCTCTTGCCGGTGTAGGCAAAGTGGCCGGAGACATCTTCAAGGACAACGTGGTGCTGTCCAACCCTGTGGCTGGACTGGTCATTGGCGTGCTGGTCACAGCCCTGGTGCAGAGTTCCAGCACGTCCTCCTCCATCGTGGTCAGCATGGTGGCTGCTAAGCGTGGGTGCACACTCCCTCCCCGGGTGGTGGGGGGGGCAGGGTGGGCCGCAGGCTGACTCAGCCCCCCCACCAGCAGTGCTGACTGTCCGGGTGTCTGTGCCCATCATCATGGGTGTCAACGTAGGCACATCCATCACCAGCACCCTGGTCTCAATGGCGCAGTCAGGGGACCGGGATGAATTTCAGAGGTGAGTTGTGGGTGGAAGGGCTGGGCTGGGGCTGCAGTGGCAGCCCCAGCCCGGGCCCCCCCACCTGACCCTGCCCACTCTCTGCGGCCACAGGGCTTTCAGCGGCTGGGCGGTGCACGGGATCTTCAACTGGCTCACAGTGCTGGTCCTGCTGCCACTGGAGAGCGCCACGGCCCTGCTGGAGAGGCTAAGTGAGCTAGCCCTGGGTGCCGCCAGCCTGACACCCAGGGCGCAGGCGCCCGACATCCTCAAGGTGCTGACGAAGCCGCTCACACACCTCATCGTGCAGGTGAGGACGGCCACCGCCCCCGCCCAGAGAGCCTGAGCAGGCCGGATGGGAGGAGGGGAGGCCCGCCCTGCCCTGATGGAGGGTCAGCGGAGGGTCTGGGCCCTGTCCTGGGACAGGGGAGGAGAGGGCAGCAGTGGGCAGGGCTGGGCTGGACCCCGCGGGCGCCAGAGCCCCGGGTGAGTCCTGAGAGAGGGTGCAGCACACCGTCACGACCCCTCTGGCCCCCAGTTGGACTCCGACATGATCATGAGCAGTGCCACAGGCAACGCCACTAACAGCAGTCTCATTAAGCACTGGTGCGGCACCACGGGGCAGCCGGTGAGGCACCCAACCCTAGGCCCTCACTGACCCCCAACCTCCCACCTGCTGAGTCATCCCGCCCCACCCACCCTCACCTCGAGCCCTCTGACCTCTGTCTGCCCACTGAGCCTGTCCTGAGTCCTCCCTGCCCTCCCCAGACCCAGGAGAACAGCAGCTGTGGCGCCTTCGGCCCGTGCACAGAGAAGAACAGCACAGCCCCGGCGGACAGGCTGCCCTGTGAGGCCCGGCCCACCCCAAGCCCCCTACACCCCCCACACTCCCCCTCACCGGCCCCTACATGGAGAGGAACAGCACAGCCCCGGCGGACAGGCTGCCCTGTGAGGCCCGGCCCACCCCGGCCCACCCCCCAGGCTCCCCCTCACCTGCCCCTGCCCTGCCCCCAGGCCGCCACCTGTTTGCGGGCACGGAGCTCACGGACCTGGCCGTGGGCTGCATCCTGCTGGCCGGCTCCCTGCTGGTGCTCTGCGGCTGCCTGGTCCTCATAGTCAAGCTGCTCAACTCTGTGCTGCGCGGCCGCGTGGCCCAGGTCGTGAGGACAGTCATCAATGCGGGTGAGGGCGTGGGAGGAGGTGCGGTGGCCAGGGCTGACCCAGCATCCCCCATAGACTTCCCCTTCCCACCAGGCTGACTCGGGGGCTACCTGGCCCTCCTTGTGGGCGCTGGCCAGGGCTGACCCGGCATCCCCCACAGACTTCCCCTTCCCGCTGGGCTGGCTCGGCGGCTACCTGGCCGTCCTCGCGGGCGCCGGCCTGACCTTCGCACTGCAGAGCAGCAGCGTCTTCACGGCGGCCGTCGTGCCCCTCATGGGTGAGCAGGCAGGACAGAGGCCTCGGGAACGGGGGCTCGGGCTGGGGTCCTGTGGTGACTCCCAGTTCCCCCAGGGGTCGGGGTGATCAGTCTGGACCGGGCGTACCCCCTCTTACTGGGCTCCAACATCGGCACCACTACCACAGCCCTGCTGGCTGCCCTGGCCAGCCCCGCAGACAGGATGCTCAGCGCCCTGCAGGTACTGTCCACCCTGCCCCGCTGCCAGAACTGGCCAGCTTCCTCTCAGCCCCACAGACAGGAGTGTGTCACCAGCCCCGGGGCCCTAGGCTGGCTGTGCCCCCGCCTTCCTGGACCCCTTCCCTGGCCGCCAGCCTCAGCCCTGCTGCTCTGCCTCCTTGGACCCCACAGGTCCTGCACACATTTCACACCCTCCCTGCGTCTCCTCCCTTGAGACCTCCTCACTTCCACATTTTCTCAGCTCTTTGCTGTGTCCCTGGGGGCCTGCCCCCAGCATCTCAGGGGGCTCTAAGCCCCTCTATTCCAGCACCCTCAGATGCTTTCCCCCAACCCCTGCTCCCTCAAGGAGCAGCCACTCACCTCCAGCAGGTCCCCATCTGGACGACCCTCCCAGCCCCCATTCCACATCTGCAAAGGCCGAGTCCCACCGATGCTGGGCCCTGCCCTGCCGCTGCCAGGGCTGTGATTCTGCCTCCAGGACACTTCCCCCAGTCTGAGCCCCCAGCTCTGTGCCCCAACCCCAGTCTCATTTAGTCCAGC
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Task1_train_13614
|
Gene SLC34A3 (solute carrier family 34 member 3) on Chromosome 9 is altered by this variant. Does this mutation result in a disease or is it benign?
|
Pathogenic; Autosomal recessive hypophosphatemic bone disease
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TTCGGGGCCAGGAGCCTTGAAGTGGTGTGAGGACCCCACCTGCTCCCCATCACCAGGGCGTGGGGCCCTTATCAAGCCGAGACGTCACTGTTTAGTATCAAATGCCAAAGTCTAAGTCGGGACCATCCACAGTGTCCCCGATGACACCAGATAGGGGAGGTCCCCAGGTTCCCCAGCTCATGGCCTGCACCCTCGGCACTAGCCTTCCAGTCAGGACCAGCAAGGGAGCCGGGGAGCTGGAGCCCCTTCGAGTCTACCCCTGAAACTGGACTGGGCTCGCCTGACAACTGCCTGAGGTCATTGTAGCCATCCCCCTGTGGATGGAGAAAGGGGGATGGTCACTGAGGCCTGCAGGGCGTAGAGAGGGAGGGTGGCGGCCAAGGGCTCAATTCAGGGGACCCAGGGGTGTGAATCCAGCTTGTGAGGACAGGGCCGGGGCAGGAGGAAATGTCTCTGACACGCGCGTCCCCCCCAGCAGATCTAGACCTGGGCCTGGGTCTGTCCCTGCCCGAAATCCATGCCGAGTTCCCTTCCCGGCAGCCAGGTCCCCCACCCCACTCTGGACGCGGTTGACCTAGTGGAAAAGACTCTGAGGAATGAAGGTACCAGTGGCCCCTGTGCCCCAGGCCTTCACCAGTCTGACCACCCACCCCCCAGGCACTGGGCAGAGACAGGCCAGGTTTCCTGCGGGCCTCCCGGGGAACCCACAGGGCTCATGACGCCTCCACTCAGGTCCAGCCCAGCTGGAGCCCCATCTTCCCCGTTCCGTTTCTGTCCCTCACTCCAGGCCTCTTACGCCTCAGCCCGTCCTCCGGCCTGTGCCCTTGTGCCCCCAGTTGGAGGGAGGTGGTCCTGGAAACAGCCGTACTCAATTCTACCTCCACAGGGACCTCCAGTTCTGCTCCAGTCTTGGAGGAAGGGGACACAGACCCCTGGACCCTCCCTCAGCTGAAGGACACAAGCCAGCCCTGGAAAGGTGGGTCTGGAGGTTCCGGGGGTGGCAGGCTGGCAGGCCTCTGTCCCCAACGGGACTGGGGAGACAGAGCAGGGTGGGGCCTGCCCAAACAGGCTGTGTGTGGGGAACTCCGCCATGCAGGCCCCCTCTGGGGAGACACGTGTCCCTCAACCGGGTGTCTGTGCTGTCCTGGGGCAGACCGGCCACCTCTGCCCATCCGTCCCTCCCCTCCTGCTCCTGCGAGGGAGGGTCCCAAGGGCTTCTGGCTTGGAAAGGCAGGAACCCGGGCCCTGCCCTGGGGGTTACGGAAGAGGAGGAAATGGGACCCAGCCCTGTTGGAGACAGAGGAGAGAGGGGGCAGAGAATGAGGGGCCTGGGAGGGAGACCTGTCAGGGTGGAGGGCCAGCCAGGGACAGCCTGCCCTGTGTCCTCAGAGCTCCGCGTGGCCGGCAGGCTGCGCCGCGTGGCCGGCAGCGTCCTCAAGGCCTGCGGGCTCCTCGGCAGCCTGTACTTCTTCATCTGCTCTCTGGACGTCCTCAGCTCCGCCTTCCAGCTGCTGGGCAGTGAGTGACGGGACGGGTGCCCAGGGCGGGGCGGGCAACCAGCCCTCCGCAGCTTCAGCGCACCTCTCTTGCCGGTGTAGGCAAAGTGGCCGGAGACATCTTCAAGGACAACGTGGTGCTGTCCAACCCTGTGGCTGGACTGGTCATTGGCGTGCTGGTCACAGCCCTGGTGCAGAGTTCCAGCACGTCCTCCTCCATCGTGGTCAGCATGGTGGCTGCTAAGCGTGGGTGCACACTCCCTCCCCGGGTGGTGGGGGGGGCAGGGTGGGCCGCAGGCTGACTCAGCCCCCCCACCAGCAGTGCTGACTGTCCGGGTGTCTGTGCCCATCATCATGGGTGTCAACGTAGGCACATCCATCACCAGCACCCTGGTCTCAATGGCGCAGTCAGGGGACCGGGATGAATTTCAGAGGTGAGTTGTGGGTGGAAGGGCTGGGCTGGGGCTGCAGTGGCAGCCCCAGCCCGGGCCCCCCCACCTGACCCTGCCCACTCTCTGCGGCCACAGGGCTTTCAGCGGCTCGGCGGTGCACGGGATCTTCAACTGGCTCACAGTGCTGGTCCTGCTGCCACTGGAGAGCGCCACGGCCCTGCTGGAGAGGCTAAGTGAGCTAGCCCTGGGTGCCGCCAGCCTGACACCCAGGGCGCAGGCGCCCGACATCCTCAAGGTGCTGACGAAGCCGCTCACACACCTCATCGTGCAGGTGAGGACGGCCACCGCCCCCGCCCAGAGAGCCTGAGCAGGCCGGATGGGAGGAGGGGAGGCCCGCCCTGCCCTGATGGAGGGTCAGCGGAGGGTCTGGGCCCTGTCCTGGGACAGGGGAGGAGAGGGCAGCAGTGGGCAGGGCTGGGCTGGACCCCGCGGGCGCCAGAGCCCCGGGTGAGTCCTGAGAGAGGGTGCAGCACACCGTCACGACCCCTCTGGCCCCCAGTTGGACTCCGACATGATCATGAGCAGTGCCACAGGCAACGCCACTAACAGCAGTCTCATTAAGCACTGGTGCGGCACCACGGGGCAGCCGGTGAGGCACCCAACCCTAGGCCCTCACTGACCCCCAACCTCCCACCTGCTGAGTCATCCCGCCCCACCCACCCTCACCTCGAGCCCTCTGACCTCTGTCTGCCCACTGAGCCTGTCCTGAGTCCTCCCTGCCCTCCCCAGACCCAGGAGAACAGCAGCTGTGGCGCCTTCGGCCCGTGCACAGAGAAGAACAGCACAGCCCCGGCGGACAGGCTGCCCTGTGAGGCCCGGCCCACCCCAAGCCCCCTACACCCCCCACACTCCCCCTCACCGGCCCCTACATGGAGAGGAACAGCACAGCCCCGGCGGACAGGCTGCCCTGTGAGGCCCGGCCCACCCCGGCCCACCCCCCAGGCTCCCCCTCACCTGCCCCTGCCCTGCCCCCAGGCCGCCACCTGTTTGCGGGCACGGAGCTCACGGACCTGGCCGTGGGCTGCATCCTGCTGGCCGGCTCCCTGCTGGTGCTCTGCGGCTGCCTGGTCCTCATAGTCAAGCTGCTCAACTCTGTGCTGCGCGGCCGCGTGGCCCAGGTCGTGAGGACAGTCATCAATGCGGGTGAGGGCGTGGGAGGAGGTGCGGTGGCCAGGGCTGACCCAGCATCCCCCATAGACTTCCCCTTCCCACCAGGCTGACTCGGGGGCTACCTGGCCCTCCTTGTGGGCGCTGGCCAGGGCTGACCCGGCATCCCCCACAGACTTCCCCTTCCCGCTGGGCTGGCTCGGCGGCTACCTGGCCGTCCTCGCGGGCGCCGGCCTGACCTTCGCACTGCAGAGCAGCAGCGTCTTCACGGCGGCCGTCGTGCCCCTCATGGGTGAGCAGGCAGGACAGAGGCCTCGGGAACGGGGGCTCGGGCTGGGGTCCTGTGGTGACTCCCAGTTCCCCCAGGGGTCGGGGTGATCAGTCTGGACCGGGCGTACCCCCTCTTACTGGGCTCCAACATCGGCACCACTACCACAGCCCTGCTGGCTGCCCTGGCCAGCCCCGCAGACAGGATGCTCAGCGCCCTGCAGGTACTGTCCACCCTGCCCCGCTGCCAGAACTGGCCAGCTTCCTCTCAGCCCCACAGACAGGAGTGTGTCACCAGCCCCGGGGCCCTAGGCTGGCTGTGCCCCCGCCTTCCTGGACCCCTTCCCTGGCCGCCAGCCTCAGCCCTGCTGCTCTGCCTCCTTGGACCCCACAGGTCCTGCACACATTTCACACCCTCCCTGCGTCTCCTCCCTTGAGACCTCCTCACTTCCACATTTTCTCAGCTCTTTGCTGTGTCCCTGGGGGCCTGCCCCCAGCATCTCAGGGGGCTCTAAGCCCCTCTATTCCAGCACCCTCAGATGCTTTCCCCCAACCCCTGCTCCCTCAAGGAGCAGCCACTCACCTCCAGCAGGTCCCCATCTGGACGACCCTCCCAGCCCCCATTCCACATCTGCAAAGGCCGAGTCCCACCGATGCTGGGCCCTGCCCTGCCGCTGCCAGGGCTGTGATTCTGCCTCCAGGACACTTCCCCCAGTCTGAGCCCCCAGCTCTGTGCCCCAACCCCAGTCTCATTTAGTCCAGCTGGTTCTCCCT
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TTCGGGGCCAGGAGCCTTGAAGTGGTGTGAGGACCCCACCTGCTCCCCATCACCAGGGCGTGGGGCCCTTATCAAGCCGAGACGTCACTGTTTAGTATCAAATGCCAAAGTCTAAGTCGGGACCATCCACAGTGTCCCCGATGACACCAGATAGGGGAGGTCCCCAGGTTCCCCAGCTCATGGCCTGCACCCTCGGCACTAGCCTTCCAGTCAGGACCAGCAAGGGAGCCGGGGAGCTGGAGCCCCTTCGAGTCTACCCCTGAAACTGGACTGGGCTCGCCTGACAACTGCCTGAGGTCATTGTAGCCATCCCCCTGTGGATGGAGAAAGGGGGATGGTCACTGAGGCCTGCAGGGCGTAGAGAGGGAGGGTGGCGGCCAAGGGCTCAATTCAGGGGACCCAGGGGTGTGAATCCAGCTTGTGAGGACAGGGCCGGGGCAGGAGGAAATGTCTCTGACACGCGCGTCCCCCCCAGCAGATCTAGACCTGGGCCTGGGTCTGTCCCTGCCCGAAATCCATGCCGAGTTCCCTTCCCGGCAGCCAGGTCCCCCACCCCACTCTGGACGCGGTTGACCTAGTGGAAAAGACTCTGAGGAATGAAGGTACCAGTGGCCCCTGTGCCCCAGGCCTTCACCAGTCTGACCACCCACCCCCCAGGCACTGGGCAGAGACAGGCCAGGTTTCCTGCGGGCCTCCCGGGGAACCCACAGGGCTCATGACGCCTCCACTCAGGTCCAGCCCAGCTGGAGCCCCATCTTCCCCGTTCCGTTTCTGTCCCTCACTCCAGGCCTCTTACGCCTCAGCCCGTCCTCCGGCCTGTGCCCTTGTGCCCCCAGTTGGAGGGAGGTGGTCCTGGAAACAGCCGTACTCAATTCTACCTCCACAGGGACCTCCAGTTCTGCTCCAGTCTTGGAGGAAGGGGACACAGACCCCTGGACCCTCCCTCAGCTGAAGGACACAAGCCAGCCCTGGAAAGGTGGGTCTGGAGGTTCCGGGGGTGGCAGGCTGGCAGGCCTCTGTCCCCAACGGGACTGGGGAGACAGAGCAGGGTGGGGCCTGCCCAAACAGGCTGTGTGTGGGGAACTCCGCCATGCAGGCCCCCTCTGGGGAGACACGTGTCCCTCAACCGGGTGTCTGTGCTGTCCTGGGGCAGACCGGCCACCTCTGCCCATCCGTCCCTCCCCTCCTGCTCCTGCGAGGGAGGGTCCCAAGGGCTTCTGGCTTGGAAAGGCAGGAACCCGGGCCCTGCCCTGGGGGTTACGGAAGAGGAGGAAATGGGACCCAGCCCTGTTGGAGACAGAGGAGAGAGGGGGCAGAGAATGAGGGGCCTGGGAGGGAGACCTGTCAGGGTGGAGGGCCAGCCAGGGACAGCCTGCCCTGTGTCCTCAGAGCTCCGCGTGGCCGGCAGGCTGCGCCGCGTGGCCGGCAGCGTCCTCAAGGCCTGCGGGCTCCTCGGCAGCCTGTACTTCTTCATCTGCTCTCTGGACGTCCTCAGCTCCGCCTTCCAGCTGCTGGGCAGTGAGTGACGGGACGGGTGCCCAGGGCGGGGCGGGCAACCAGCCCTCCGCAGCTTCAGCGCACCTCTCTTGCCGGTGTAGGCAAAGTGGCCGGAGACATCTTCAAGGACAACGTGGTGCTGTCCAACCCTGTGGCTGGACTGGTCATTGGCGTGCTGGTCACAGCCCTGGTGCAGAGTTCCAGCACGTCCTCCTCCATCGTGGTCAGCATGGTGGCTGCTAAGCGTGGGTGCACACTCCCTCCCCGGGTGGTGGGGGGGGCAGGGTGGGCCGCAGGCTGACTCAGCCCCCCCACCAGCAGTGCTGACTGTCCGGGTGTCTGTGCCCATCATCATGGGTGTCAACGTAGGCACATCCATCACCAGCACCCTGGTCTCAATGGCGCAGTCAGGGGACCGGGATGAATTTCAGAGGTGAGTTGTGGGTGGAAGGGCTGGGCTGGGGCTGCAGTGGCAGCCCCAGCCCGGGCCCCCCCACCTGACCCTGCCCACTCTCTGCGGCCACAGGGCTTTCAGCGGCTCGGCGGTGCACAGGATCTTCAACTGGCTCACAGTGCTGGTCCTGCTGCCACTGGAGAGCGCCACGGCCCTGCTGGAGAGGCTAAGTGAGCTAGCCCTGGGTGCCGCCAGCCTGACACCCAGGGCGCAGGCGCCCGACATCCTCAAGGTGCTGACGAAGCCGCTCACACACCTCATCGTGCAGGTGAGGACGGCCACCGCCCCCGCCCAGAGAGCCTGAGCAGGCCGGATGGGAGGAGGGGAGGCCCGCCCTGCCCTGATGGAGGGTCAGCGGAGGGTCTGGGCCCTGTCCTGGGACAGGGGAGGAGAGGGCAGCAGTGGGCAGGGCTGGGCTGGACCCCGCGGGCGCCAGAGCCCCGGGTGAGTCCTGAGAGAGGGTGCAGCACACCGTCACGACCCCTCTGGCCCCCAGTTGGACTCCGACATGATCATGAGCAGTGCCACAGGCAACGCCACTAACAGCAGTCTCATTAAGCACTGGTGCGGCACCACGGGGCAGCCGGTGAGGCACCCAACCCTAGGCCCTCACTGACCCCCAACCTCCCACCTGCTGAGTCATCCCGCCCCACCCACCCTCACCTCGAGCCCTCTGACCTCTGTCTGCCCACTGAGCCTGTCCTGAGTCCTCCCTGCCCTCCCCAGACCCAGGAGAACAGCAGCTGTGGCGCCTTCGGCCCGTGCACAGAGAAGAACAGCACAGCCCCGGCGGACAGGCTGCCCTGTGAGGCCCGGCCCACCCCAAGCCCCCTACACCCCCCACACTCCCCCTCACCGGCCCCTACATGGAGAGGAACAGCACAGCCCCGGCGGACAGGCTGCCCTGTGAGGCCCGGCCCACCCCGGCCCACCCCCCAGGCTCCCCCTCACCTGCCCCTGCCCTGCCCCCAGGCCGCCACCTGTTTGCGGGCACGGAGCTCACGGACCTGGCCGTGGGCTGCATCCTGCTGGCCGGCTCCCTGCTGGTGCTCTGCGGCTGCCTGGTCCTCATAGTCAAGCTGCTCAACTCTGTGCTGCGCGGCCGCGTGGCCCAGGTCGTGAGGACAGTCATCAATGCGGGTGAGGGCGTGGGAGGAGGTGCGGTGGCCAGGGCTGACCCAGCATCCCCCATAGACTTCCCCTTCCCACCAGGCTGACTCGGGGGCTACCTGGCCCTCCTTGTGGGCGCTGGCCAGGGCTGACCCGGCATCCCCCACAGACTTCCCCTTCCCGCTGGGCTGGCTCGGCGGCTACCTGGCCGTCCTCGCGGGCGCCGGCCTGACCTTCGCACTGCAGAGCAGCAGCGTCTTCACGGCGGCCGTCGTGCCCCTCATGGGTGAGCAGGCAGGACAGAGGCCTCGGGAACGGGGGCTCGGGCTGGGGTCCTGTGGTGACTCCCAGTTCCCCCAGGGGTCGGGGTGATCAGTCTGGACCGGGCGTACCCCCTCTTACTGGGCTCCAACATCGGCACCACTACCACAGCCCTGCTGGCTGCCCTGGCCAGCCCCGCAGACAGGATGCTCAGCGCCCTGCAGGTACTGTCCACCCTGCCCCGCTGCCAGAACTGGCCAGCTTCCTCTCAGCCCCACAGACAGGAGTGTGTCACCAGCCCCGGGGCCCTAGGCTGGCTGTGCCCCCGCCTTCCTGGACCCCTTCCCTGGCCGCCAGCCTCAGCCCTGCTGCTCTGCCTCCTTGGACCCCACAGGTCCTGCACACATTTCACACCCTCCCTGCGTCTCCTCCCTTGAGACCTCCTCACTTCCACATTTTCTCAGCTCTTTGCTGTGTCCCTGGGGGCCTGCCCCCAGCATCTCAGGGGGCTCTAAGCCCCTCTATTCCAGCACCCTCAGATGCTTTCCCCCAACCCCTGCTCCCTCAAGGAGCAGCCACTCACCTCCAGCAGGTCCCCATCTGGACGACCCTCCCAGCCCCCATTCCACATCTGCAAAGGCCGAGTCCCACCGATGCTGGGCCCTGCCCTGCCGCTGCCAGGGCTGTGATTCTGCCTCCAGGACACTTCCCCCAGTCTGAGCCCCCAGCTCTGTGCCCCAACCCCAGTCTCATTTAGTCCAGCTGGTTCTCCCT
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Task1_train_13615
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Given a variant located on Chromosome 9 and affecting SLC34A3 (solute carrier family 34 member 3), assess whether it is benign or pathogenic. Indicate the associated disease if pathogenic.
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Pathogenic; Autosomal recessive hypophosphatemic bone disease
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GTGTCCTCAGAGCTCCGCGTGGCCGGCAGGCTGCGCCGCGTGGCCGGCAGCGTCCTCAAGGCCTGCGGGCTCCTCGGCAGCCTGTACTTCTTCATCTGCTCTCTGGACGTCCTCAGCTCCGCCTTCCAGCTGCTGGGCAGTGAGTGACGGGACGGGTGCCCAGGGCGGGGCGGGCAACCAGCCCTCCGCAGCTTCAGCGCACCTCTCTTGCCGGTGTAGGCAAAGTGGCCGGAGACATCTTCAAGGACAACGTGGTGCTGTCCAACCCTGTGGCTGGACTGGTCATTGGCGTGCTGGTCACAGCCCTGGTGCAGAGTTCCAGCACGTCCTCCTCCATCGTGGTCAGCATGGTGGCTGCTAAGCGTGGGTGCACACTCCCTCCCCGGGTGGTGGGGGGGGCAGGGTGGGCCGCAGGCTGACTCAGCCCCCCCACCAGCAGTGCTGACTGTCCGGGTGTCTGTGCCCATCATCATGGGTGTCAACGTAGGCACATCCATCACCAGCACCCTGGTCTCAATGGCGCAGTCAGGGGACCGGGATGAATTTCAGAGGTGAGTTGTGGGTGGAAGGGCTGGGCTGGGGCTGCAGTGGCAGCCCCAGCCCGGGCCCCCCCACCTGACCCTGCCCACTCTCTGCGGCCACAGGGCTTTCAGCGGCTCGGCGGTGCACGGGATCTTCAACTGGCTCACAGTGCTGGTCCTGCTGCCACTGGAGAGCGCCACGGCCCTGCTGGAGAGGCTAAGTGAGCTAGCCCTGGGTGCCGCCAGCCTGACACCCAGGGCGCAGGCGCCCGACATCCTCAAGGTGCTGACGAAGCCGCTCACACACCTCATCGTGCAGGTGAGGACGGCCACCGCCCCCGCCCAGAGAGCCTGAGCAGGCCGGATGGGAGGAGGGGAGGCCCGCCCTGCCCTGATGGAGGGTCAGCGGAGGGTCTGGGCCCTGTCCTGGGACAGGGGAGGAGAGGGCAGCAGTGGGCAGGGCTGGGCTGGACCCCGCGGGCGCCAGAGCCCCGGGTGAGTCCTGAGAGAGGGTGCAGCACACCGTCACGACCCCTCTGGCCCCCAGTTGGACTCCGACATGATCATGAGCAGTGCCACAGGCAACGCCACTAACAGCAGTCTCATTAAGCACTGGTGCGGCACCACGGGGCAGCCGGTGAGGCACCCAACCCTAGGCCCTCACTGACCCCCAACCTCCCACCTGCTGAGTCATCCCGCCCCACCCACCCTCACCTCGAGCCCTCTGACCTCTGTCTGCCCACTGAGCCTGTCCTGAGTCCTCCCTGCCCTCCCCAGACCCAGGAGAACAGCAGCTGTGGCGCCTTCGGCCCGTGCACAGAGAAGAACAGCACAGCCCCGGCGGACAGGCTGCCCTGTGAGGCCCGGCCCACCCCAAGCCCCCTACACCCCCCACACTCCCCCTCACCGGCCCCTACATGGAGAGGAACAGCACAGCCCCGGCGGACAGGCTGCCCTGTGAGGCCCGGCCCACCCCGGCCCACCCCCCAGGCTCCCCCTCACCTGCCCCTGCCCTGCCCCCAGGCCGCCACCTGTTTGCGGGCACGGAGCTCACGGACCTGGCCGTGGGCTGCATCCTGCTGGCCGGCTCCCTGCTGGTGCTCTGCGGCTGCCTGGTCCTCATAGTCAAGCTGCTCAACTCTGTGCTGCGCGGCCGCGTGGCCCAGGTCGTGAGGACAGTCATCAATGCGGGTGAGGGCGTGGGAGGAGGTGCGGTGGCCAGGGCTGACCCAGCATCCCCCATAGACTTCCCCTTCCCACCAGGCTGACTCGGGGGCTACCTGGCCCTCCTTGTGGGCGCTGGCCAGGGCTGACCCGGCATCCCCCACAGACTTCCCCTTCCCGCTGGGCTGGCTCGGCGGCTACCTGGCCGTCCTCGCGGGCGCCGGCCTGACCTTCGCACTGCAGAGCAGCAGCGTCTTCACGGCGGCCGTCGTGCCCCTCATGGGTGAGCAGGCAGGACAGAGGCCTCGGGAACGGGGGCTCGGGCTGGGGTCCTGTGGTGACTCCCAGTTCCCCCAGGGGTCGGGGTGATCAGTCTGGACCGGGCGTACCCCCTCTTACTGGGCTCCAACATCGGCACCACTACCACAGCCCTGCTGGCTGCCCTGGCCAGCCCCGCAGACAGGATGCTCAGCGCCCTGCAGGTACTGTCCACCCTGCCCCGCTGCCAGAACTGGCCAGCTTCCTCTCAGCCCCACAGACAGGAGTGTGTCACCAGCCCCGGGGCCCTAGGCTGGCTGTGCCCCCGCCTTCCTGGACCCCTTCCCTGGCCGCCAGCCTCAGCCCTGCTGCTCTGCCTCCTTGGACCCCACAGGTCCTGCACACATTTCACACCCTCCCTGCGTCTCCTCCCTTGAGACCTCCTCACTTCCACATTTTCTCAGCTCTTTGCTGTGTCCCTGGGGGCCTGCCCCCAGCATCTCAGGGGGCTCTAAGCCCCTCTATTCCAGCACCCTCAGATGCTTTCCCCCAACCCCTGCTCCCTCAAGGAGCAGCCACTCACCTCCAGCAGGTCCCCATCTGGACGACCCTCCCAGCCCCCATTCCACATCTGCAAAGGCCGAGTCCCACCGATGCTGGGCCCTGCCCTGCCGCTGCCAGGGCTGTGATTCTGCCTCCAGGACACTTCCCCCAGTCTGAGCCCCCAGCTCTGTGCCCCAACCCCAGTCTCATTTAGTCCAGCTGGTTCTCCCTCTAAAACAGCCCGTCTGCGGCCTGCTGCCCGGAGGCCCAACAGGTTCAGCTCCCGAAACTCCGGGTCATGCTGCACCGCCGCTGACAGGAAGAGACAAGTGCGGCACCCCCTGGAACCCACGCTCGTTCTTCTTGCCTCTGCCCTGTCTCTATCCACTTAGACCCTCCCAGTGCAGGGTCCTGCTCCACCCCCTGCAGGAAGCCCTCCAGACTGCACCTGTGTGTGGACTCCTCCAAGTCCGGCAGCCCCTGGAGGGGCCCGTGACACTGTTCTCCCCTCCTGTGGCCCTGTGCCTCCTCCCCGCAGGGCCTGGACTGTGCAGGCTCAGCACACTGGGGACTGAGGAGACGGGGTCTCTTGGCAGGAGGCACAGGCAGAGCCAGGTCGGAAGGTGCTTCCCCCGCAGGTCCCCCTTGAGGGCAGCAGTGATGCAGTCAGTGCTCGGGGGTGCTGGGCTGGACTGCAGCTCCCAGGAGCGTGCGGGAGGCGTGCTGGGGAACATGTCCACATCTGGCCACAGCCCGCCTCCCAGACGGCCATCTCATCCGTGAAGCAGGATGAACTTCAGACTTGGCGCTCCTTCTGTAGGGTGGAGGAGGGCAGGGGTCCGGGGCCCCTGGTGACCCCACCTCGTTGGGCCCAGGCCCCTGACAGCCCCCTCGCCCCCAGGTCGCCCTCATCCACTTCTTCTTCAACCTGGCCGGCATCCTGCTGTGGTACCTGGTGCCTGCACTGCGGCTGCCCATCCCGCTGGCCAGGCACTTCGGGGTGGTGACCGCCCGTTACCGCTGGGTGGCTGGGGTCTACCTGCTGCTCGGATTCCTGCTGCTGCCCCTGGCGGCCTTCGGGCTCTCCCTGGCAGGGGGCATGGAGCTGGCCGCTGTCGGGGGTCCCCTGGTGGGGCTGGTGCTCCTCGTCATCCTGGTTACTGTCCTGCAGCGGCGCCGGCCGGCCTGGCTGCCTGTCCGCCTGCGCTCCTGGGCCTGGCTCCCCGTCTGGCTCCATTCTCTGGAGCCCTGGGACCGCCTGGTGACCCGCTGCTGCCCCTGCAACGTCTGCAGCCCCCCGAAGGCCACCACCAAAGAGGCCTACTGCTACGAGAACCCTGAGATCTTGGCCTCCCAGCAGTTGTGACGGGCAGTTGCTGAGCAGACCGCCCCACCCTCCCCGGCTGGGAGGGCTCTGGAGGGCCCTGGAGGGGGGGTCCCCGCGGCAGCTGACCTCCGGTCACCTGCTTCCCCTTCTGTGCAAATAAACCAGGCTGTTATCTGGGGTGGCGGTCCTCACTCCCCTAGACAGGGGCCGCCTGCGCAGGTGGGGGAAGCAGCCCGATGCTGCCTCCTGGTGGACACTCCGGGGCCTGGGGCTCAGGCACAGG
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GTGTCCTCAGAGCTCCGCGTGGCCGGCAGGCTGCGCCGCGTGGCCGGCAGCGTCCTCAAGGCCTGCGGGCTCCTCGGCAGCCTGTACTTCTTCATCTGCTCTCTGGACGTCCTCAGCTCCGCCTTCCAGCTGCTGGGCAGTGAGTGACGGGACGGGTGCCCAGGGCGGGGCGGGCAACCAGCCCTCCGCAGCTTCAGCGCACCTCTCTTGCCGGTGTAGGCAAAGTGGCCGGAGACATCTTCAAGGACAACGTGGTGCTGTCCAACCCTGTGGCTGGACTGGTCATTGGCGTGCTGGTCACAGCCCTGGTGCAGAGTTCCAGCACGTCCTCCTCCATCGTGGTCAGCATGGTGGCTGCTAAGCGTGGGTGCACACTCCCTCCCCGGGTGGTGGGGGGGGCAGGGTGGGCCGCAGGCTGACTCAGCCCCCCCACCAGCAGTGCTGACTGTCCGGGTGTCTGTGCCCATCATCATGGGTGTCAACGTAGGCACATCCATCACCAGCACCCTGGTCTCAATGGCGCAGTCAGGGGACCGGGATGAATTTCAGAGGTGAGTTGTGGGTGGAAGGGCTGGGCTGGGGCTGCAGTGGCAGCCCCAGCCCGGGCCCCCCCACCTGACCCTGCCCACTCTCTGCGGCCACAGGGCTTTCAGCGGCTCGGCGGTGCACGGGATCTTCAACTGGCTCACAGTGCTGGTCCTGCTGCCACTGGAGAGCGCCACGGCCCTGCTGGAGAGGCTAAGTGAGCTAGCCCTGGGTGCCGCCAGCCTGACACCCAGGGCGCAGGCGCCCGACATCCTCAAGGTGCTGACGAAGCCGCTCACACACCTCATCGTGCAGGTGAGGACGGCCACCGCCCCCGCCCAGAGAGCCTGAGCAGGCCGGATGGGAGGAGGGGAGGCCCGCCCTGCCCTGATGGAGGGTCAGCGGAGGGTCTGGGCCCTGTCCTGGGACAGGGGAGGAGAGGGCAGCAGTGGGCAGGGCTGGGCTGGACCCCGCGGGCGCCAGAGCCCCGGGTGAGTCCTGAGAGAGGGTGCAGCACACCGTCACGACCCCTCTGGCCCCCAGTTGGACTCCGACATGATCATGAGCAGTGCCACAGGCAACGCCACTAACAGCAGTCTCATTAAGCACTGGTGCGGCACCACGGGGCAGCCGGTGAGGCACCCAACCCTAGGCCCTCACTGACCCCCAACCTCCCACCTGCTGAGTCATCCCGCCCCACCCACCCTCACCTCGAGCCCTCTGACCTCTGTCTGCCCACTGAGCCTGTCCTGAGTCCTCCCTGCCCTCCCCAGACCCAGGAGAACAGCAGCTGTGGCGCCTTCGGCCCGTGCACAGAGAAGAACAGCACAGCCCCGGCGGACAGGCTGCCCTGTGAGGCCCGGCCCACCCCAAGCCCCCTACACCCCCCACACTCCCCCTCACCGGCCCCTACATGGAGAGGAACAGCACAGCCCCGGCGGACAGGCTGCCCTGTGAGGCCCGGCCCACCCCGGCCCACCCCCCAGGCTCCCCCTCACCTGCCCCTGCCCTGCCCCCAGGCCGCCACCTGTTTGCGGGCACGGAGCTCACGGACCTGGCCGTGGGCTGCATCCTGCTGGCCGGCTCCCTGCTGGTGCTCTGCGGCTGCCTGGTCCTCATAGTCAAGCTGCTCAACTCTGTGCTGCGCGGCCGCGTGGCCCAGGTCGTGAGGACAGTCATCAATGCGGGTGAGGGCGTGGGAGGAGGTGCGGTGGCCAGGGCTGACCCAGCATCCCCCATAGACTTCCCCTTCCCACCAGGCTGACTCGGGGGCTACCTGGCCCTCCTTGTGGGCGCTGGCCAGGGCTGACCCGGCATCCCCCACAGACTTCCCCTTCCCGCTGGGCTGGCTCGGCGGCTACCTGGCCGTCCTCGCGGGCGCCGGCCTGACCTTCGCACTGCAGAGCAGCAGCGTCTTCACGGCGGCCGTCGTGCCCCTCATGGGTGAGCAGGCAGGACAGAGGCCTCGGGAACGGGGGCTCGGGCTGGGGTCCTGTGGTGACTCCCAGTTCCCCCAGGGGTCGTGGTGATCAGTCTGGACCGGGCGTACCCCCTCTTACTGGGCTCCAACATCGGCACCACTACCACAGCCCTGCTGGCTGCCCTGGCCAGCCCCGCAGACAGGATGCTCAGCGCCCTGCAGGTACTGTCCACCCTGCCCCGCTGCCAGAACTGGCCAGCTTCCTCTCAGCCCCACAGACAGGAGTGTGTCACCAGCCCCGGGGCCCTAGGCTGGCTGTGCCCCCGCCTTCCTGGACCCCTTCCCTGGCCGCCAGCCTCAGCCCTGCTGCTCTGCCTCCTTGGACCCCACAGGTCCTGCACACATTTCACACCCTCCCTGCGTCTCCTCCCTTGAGACCTCCTCACTTCCACATTTTCTCAGCTCTTTGCTGTGTCCCTGGGGGCCTGCCCCCAGCATCTCAGGGGGCTCTAAGCCCCTCTATTCCAGCACCCTCAGATGCTTTCCCCCAACCCCTGCTCCCTCAAGGAGCAGCCACTCACCTCCAGCAGGTCCCCATCTGGACGACCCTCCCAGCCCCCATTCCACATCTGCAAAGGCCGAGTCCCACCGATGCTGGGCCCTGCCCTGCCGCTGCCAGGGCTGTGATTCTGCCTCCAGGACACTTCCCCCAGTCTGAGCCCCCAGCTCTGTGCCCCAACCCCAGTCTCATTTAGTCCAGCTGGTTCTCCCTCTAAAACAGCCCGTCTGCGGCCTGCTGCCCGGAGGCCCAACAGGTTCAGCTCCCGAAACTCCGGGTCATGCTGCACCGCCGCTGACAGGAAGAGACAAGTGCGGCACCCCCTGGAACCCACGCTCGTTCTTCTTGCCTCTGCCCTGTCTCTATCCACTTAGACCCTCCCAGTGCAGGGTCCTGCTCCACCCCCTGCAGGAAGCCCTCCAGACTGCACCTGTGTGTGGACTCCTCCAAGTCCGGCAGCCCCTGGAGGGGCCCGTGACACTGTTCTCCCCTCCTGTGGCCCTGTGCCTCCTCCCCGCAGGGCCTGGACTGTGCAGGCTCAGCACACTGGGGACTGAGGAGACGGGGTCTCTTGGCAGGAGGCACAGGCAGAGCCAGGTCGGAAGGTGCTTCCCCCGCAGGTCCCCCTTGAGGGCAGCAGTGATGCAGTCAGTGCTCGGGGGTGCTGGGCTGGACTGCAGCTCCCAGGAGCGTGCGGGAGGCGTGCTGGGGAACATGTCCACATCTGGCCACAGCCCGCCTCCCAGACGGCCATCTCATCCGTGAAGCAGGATGAACTTCAGACTTGGCGCTCCTTCTGTAGGGTGGAGGAGGGCAGGGGTCCGGGGCCCCTGGTGACCCCACCTCGTTGGGCCCAGGCCCCTGACAGCCCCCTCGCCCCCAGGTCGCCCTCATCCACTTCTTCTTCAACCTGGCCGGCATCCTGCTGTGGTACCTGGTGCCTGCACTGCGGCTGCCCATCCCGCTGGCCAGGCACTTCGGGGTGGTGACCGCCCGTTACCGCTGGGTGGCTGGGGTCTACCTGCTGCTCGGATTCCTGCTGCTGCCCCTGGCGGCCTTCGGGCTCTCCCTGGCAGGGGGCATGGAGCTGGCCGCTGTCGGGGGTCCCCTGGTGGGGCTGGTGCTCCTCGTCATCCTGGTTACTGTCCTGCAGCGGCGCCGGCCGGCCTGGCTGCCTGTCCGCCTGCGCTCCTGGGCCTGGCTCCCCGTCTGGCTCCATTCTCTGGAGCCCTGGGACCGCCTGGTGACCCGCTGCTGCCCCTGCAACGTCTGCAGCCCCCCGAAGGCCACCACCAAAGAGGCCTACTGCTACGAGAACCCTGAGATCTTGGCCTCCCAGCAGTTGTGACGGGCAGTTGCTGAGCAGACCGCCCCACCCTCCCCGGCTGGGAGGGCTCTGGAGGGCCCTGGAGGGGGGGTCCCCGCGGCAGCTGACCTCCGGTCACCTGCTTCCCCTTCTGTGCAAATAAACCAGGCTGTTATCTGGGGTGGCGGTCCTCACTCCCCTAGACAGGGGCCGCCTGCGCAGGTGGGGGAAGCAGCCCGATGCTGCCTCCTGGTGGACACTCCGGGGCCTGGGGCTCAGGCACAGG
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Task1_train_13616
|
This sequence variant lies in SLC34A3 (solute carrier family 34 member 3) on Chromosome 9. Is it clinically significant, and what condition might it cause if any?
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Pathogenic; Autosomal recessive hypophosphatemic bone disease
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ACACCCCCCACACTCCCCCTCACCGGCCCCTACATGGAGAGGAACAGCACAGCCCCGGCGGACAGGCTGCCCTGTGAGGCCCGGCCCACCCCGGCCCACCCCCCAGGCTCCCCCTCACCTGCCCCTGCCCTGCCCCCAGGCCGCCACCTGTTTGCGGGCACGGAGCTCACGGACCTGGCCGTGGGCTGCATCCTGCTGGCCGGCTCCCTGCTGGTGCTCTGCGGCTGCCTGGTCCTCATAGTCAAGCTGCTCAACTCTGTGCTGCGCGGCCGCGTGGCCCAGGTCGTGAGGACAGTCATCAATGCGGGTGAGGGCGTGGGAGGAGGTGCGGTGGCCAGGGCTGACCCAGCATCCCCCATAGACTTCCCCTTCCCACCAGGCTGACTCGGGGGCTACCTGGCCCTCCTTGTGGGCGCTGGCCAGGGCTGACCCGGCATCCCCCACAGACTTCCCCTTCCCGCTGGGCTGGCTCGGCGGCTACCTGGCCGTCCTCGCGGGCGCCGGCCTGACCTTCGCACTGCAGAGCAGCAGCGTCTTCACGGCGGCCGTCGTGCCCCTCATGGGTGAGCAGGCAGGACAGAGGCCTCGGGAACGGGGGCTCGGGCTGGGGTCCTGTGGTGACTCCCAGTTCCCCCAGGGGTCGGGGTGATCAGTCTGGACCGGGCGTACCCCCTCTTACTGGGCTCCAACATCGGCACCACTACCACAGCCCTGCTGGCTGCCCTGGCCAGCCCCGCAGACAGGATGCTCAGCGCCCTGCAGGTACTGTCCACCCTGCCCCGCTGCCAGAACTGGCCAGCTTCCTCTCAGCCCCACAGACAGGAGTGTGTCACCAGCCCCGGGGCCCTAGGCTGGCTGTGCCCCCGCCTTCCTGGACCCCTTCCCTGGCCGCCAGCCTCAGCCCTGCTGCTCTGCCTCCTTGGACCCCACAGGTCCTGCACACATTTCACACCCTCCCTGCGTCTCCTCCCTTGAGACCTCCTCACTTCCACATTTTCTCAGCTCTTTGCTGTGTCCCTGGGGGCCTGCCCCCAGCATCTCAGGGGGCTCTAAGCCCCTCTATTCCAGCACCCTCAGATGCTTTCCCCCAACCCCTGCTCCCTCAAGGAGCAGCCACTCACCTCCAGCAGGTCCCCATCTGGACGACCCTCCCAGCCCCCATTCCACATCTGCAAAGGCCGAGTCCCACCGATGCTGGGCCCTGCCCTGCCGCTGCCAGGGCTGTGATTCTGCCTCCAGGACACTTCCCCCAGTCTGAGCCCCCAGCTCTGTGCCCCAACCCCAGTCTCATTTAGTCCAGCTGGTTCTCCCTCTAAAACAGCCCGTCTGCGGCCTGCTGCCCGGAGGCCCAACAGGTTCAGCTCCCGAAACTCCGGGTCATGCTGCACCGCCGCTGACAGGAAGAGACAAGTGCGGCACCCCCTGGAACCCACGCTCGTTCTTCTTGCCTCTGCCCTGTCTCTATCCACTTAGACCCTCCCAGTGCAGGGTCCTGCTCCACCCCCTGCAGGAAGCCCTCCAGACTGCACCTGTGTGTGGACTCCTCCAAGTCCGGCAGCCCCTGGAGGGGCCCGTGACACTGTTCTCCCCTCCTGTGGCCCTGTGCCTCCTCCCCGCAGGGCCTGGACTGTGCAGGCTCAGCACACTGGGGACTGAGGAGACGGGGTCTCTTGGCAGGAGGCACAGGCAGAGCCAGGTCGGAAGGTGCTTCCCCCGCAGGTCCCCCTTGAGGGCAGCAGTGATGCAGTCAGTGCTCGGGGGTGCTGGGCTGGACTGCAGCTCCCAGGAGCGTGCGGGAGGCGTGCTGGGGAACATGTCCACATCTGGCCACAGCCCGCCTCCCAGACGGCCATCTCATCCGTGAAGCAGGATGAACTTCAGACTTGGCGCTCCTTCTGTAGGGTGGAGGAGGGCAGGGGTCCGGGGCCCCTGGTGACCCCACCTCGTTGGGCCCAGGCCCCTGACAGCCCCCTCGCCCCCAGGTCGCCCTCATCCACTTCTTCTTCAACCTGGCCGGCATCCTGCTGTGGTACCTGGTGCCTGCACTGCGGCTGCCCATCCCGCTGGCCAGGCACTTCGGGGTGGTGACCGCCCGTTACCGCTGGGTGGCTGGGGTCTACCTGCTGCTCGGATTCCTGCTGCTGCCCCTGGCGGCCTTCGGGCTCTCCCTGGCAGGGGGCATGGAGCTGGCCGCTGTCGGGGGTCCCCTGGTGGGGCTGGTGCTCCTCGTCATCCTGGTTACTGTCCTGCAGCGGCGCCGGCCGGCCTGGCTGCCTGTCCGCCTGCGCTCCTGGGCCTGGCTCCCCGTCTGGCTCCATTCTCTGGAGCCCTGGGACCGCCTGGTGACCCGCTGCTGCCCCTGCAACGTCTGCAGCCCCCCGAAGGCCACCACCAAAGAGGCCTACTGCTACGAGAACCCTGAGATCTTGGCCTCCCAGCAGTTGTGACGGGCAGTTGCTGAGCAGACCGCCCCACCCTCCCCGGCTGGGAGGGCTCTGGAGGGCCCTGGAGGGGGGGTCCCCGCGGCAGCTGACCTCCGGTCACCTGCTTCCCCTTCTGTGCAAATAAACCAGGCTGTTATCTGGGGTGGCGGTCCTCACTCCCCTAGACAGGGGCCGCCTGCGCAGGTGGGGGAAGCAGCCCGATGCTGCCTCCTGGTGGACACTCCGGGGCCTGGGGCTCAGGCACAGGAGCCCGCCCACCCCAAGGTGTGTTTCTCACGGCAGCCGCTGGGGACAGAAGCTCCCAAGGAATGGCGGGCCTGGGGGGGCGGGGACTTCCCACAGTGGGAGCTGGGGCCCCTCCTGGGGGCGCAGGGGAGAGCCCAGCCAGCAGGGAGCAGGGCCGGTGGTGCAGGGTGTGGGGGATCCCGGAGCTCCTCTGCCCCGGCGGATGTCATGGTTGGGGTGGGGACTGGAGTCCCATCAGGTGCGTGGGGTGTGAGAAGGGACCCTGACGGCTTGGAGGGCCAGGTGGTCCCAGAGGCACCACCTGTCTGTCTGCCCTCTGTGTCTCTCAGCCGGTCCTGGGCTGGGCCCCTCGGGGACACTTCTCTGCAGGGCTGGGCCACGGCAGGTGCTCAGCTCCCAGAACCCACCAGGAAGCCAGTCTCACCCGCCAGGCTGGGGCACACTGAGGCCTCCCACTGCCACGGAGAATGAGACCCTGTCCCGGGAAGGCCTGTCCGTGGGGTGGGCCCAGGAGGGCGGACAGCACCCATGGGGAGGACTTGGGGGCCAGGGGGCCCTCCCTCTGCTGTGTGGTCGGGTTTCCACACAGGAAGGCTTGTCTGCCAGCCAATGGGTAACTGGACACCTAGGAAGTTGAGGGGGGGCTCCTGCCACCTCTAGCCCAGAGCTGCCCACAGCCCTAACCCAACCCCCACTCCCGCCAAGGGAAGAAAGCCTTGGGTTACCCCAGAACTGGAGCATTCATTCAGGCACACAGAGACGGGTGGGTGAGGGGACGGTCCCATCAGGGACAGGTCTAGTTTGCTCATTTGAGTCTGCTGCTGTGGCCAGTCACGTTCTCCCTTCCAGAACTGCAGCCCTGTTGGGGGGCAGCTCTCTTCCCAGAGCCTCCCAGGATTGCCTGGTCAGACCCCACTAGGGGATAGAGGTGCAGCCACTCAGGAAGATGAGGCCTGAGGGGGCCCCACGGCCACTTCTCCTCTGTGGCTCTGTTCTTTTCTGCCCTCAGTTTCCCTTTGCCCCTGCTCATGACCCCCAGACCCTCTGTGCCCTTGGCCCCCAGTCTTCCCTGGGTCCTCTGCCCCAGCCACCCCTCAAACTCTTAGGCCTCCTGGGCCTTGGTTTCACCTACCGAGGGAGGTGACCACCTGCTCTGGGAGCCAGGGGTGCCTCAGGGGTGGGCTCCAGTGAGAATGGGACCCCCAGCAGCTAGAGCTTTGGTTCTCACAGCCCTGTGATTCTAGGACGCCCCTGTGGACCTGACATCAGCCTCATAGAACCGTCTGGCACCCCTGTAGGGGACAAGCCTGGCTAGCTCCCTGGGGAGCCTGAGGGGCCGGGGAGCTCCCCTGTCCTTTGGGGGGGGATCAGTGAGGCCCTTGTGGAGAGAGGGAGGAAGCACCCCA
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ACACCCCCCACACTCCCCCTCACCGGCCCCTACATGGAGAGGAACAGCACAGCCCCGGCGGACAGGCTGCCCTGTGAGGCCCGGCCCACCCCGGCCCACCCCCCAGGCTCCCCCTCACCTGCCCCTGCCCTGCCCCCAGGCCGCCACCTGTTTGCGGGCACGGAGCTCACGGACCTGGCCGTGGGCTGCATCCTGCTGGCCGGCTCCCTGCTGGTGCTCTGCGGCTGCCTGGTCCTCATAGTCAAGCTGCTCAACTCTGTGCTGCGCGGCCGCGTGGCCCAGGTCGTGAGGACAGTCATCAATGCGGGTGAGGGCGTGGGAGGAGGTGCGGTGGCCAGGGCTGACCCAGCATCCCCCATAGACTTCCCCTTCCCACCAGGCTGACTCGGGGGCTACCTGGCCCTCCTTGTGGGCGCTGGCCAGGGCTGACCCGGCATCCCCCACAGACTTCCCCTTCCCGCTGGGCTGGCTCGGCGGCTACCTGGCCGTCCTCGCGGGCGCCGGCCTGACCTTCGCACTGCAGAGCAGCAGCGTCTTCACGGCGGCCGTCGTGCCCCTCATGGGTGAGCAGGCAGGACAGAGGCCTCGGGAACGGGGGCTCGGGCTGGGGTCCTGTGGTGACTCCCAGTTCCCCCAGGGGTCGGGGTGATCAGTCTGGACCGGGCGTACCCCCTCTTACTGGGCTCCAACATCGGCACCACTACCACAGCCCTGCTGGCTGCCCTGGCCAGCCCCGCAGACAGGATGCTCAGCGCCCTGCAGGTACTGTCCACCCTGCCCCGCTGCCAGAACTGGCCAGCTTCCTCTCAGCCCCACAGACAGGAGTGTGTCACCAGCCCCGGGGCCCTAGGCTGGCTGTGCCCCCGCCTTCCTGGACCCCTTCCCTGGCCGCCAGCCTCAGCCCTGCTGCTCTGCCTCCTTGGACCCCACAGGTCCTGCACACATTTCACACCCTCCCTGCGTCTCCTCCCTTGAGACCTCCTCACTTCCACATTTTCTCAGCTCTTTGCTGTGTCCCTGGGGGCCTGCCCCCAGCATCTCAGGGGGCTCTAAGCCCCTCTATTCCAGCACCCTCAGATGCTTTCCCCCAACCCCTGCTCCCTCAAGGAGCAGCCACTCACCTCCAGCAGGTCCCCATCTGGACGACCCTCCCAGCCCCCATTCCACATCTGCAAAGGCCGAGTCCCACCGATGCTGGGCCCTGCCCTGCCGCTGCCAGGGCTGTGATTCTGCCTCCAGGACACTTCCCCCAGTCTGAGCCCCCAGCTCTGTGCCCCAACCCCAGTCTCATTTAGTCCAGCTGGTTCTCCCTCTAAAACAGCCCGTCTGCGGCCTGCTGCCCGGAGGCCCAACAGGTTCAGCTCCCGAAACTCCGGGTCATGCTGCACCGCCGCTGACAGGAAGAGACAAGTGCGGCACCCCCTGGAACCCACGCTCGTTCTTCTTGCCTCTGCCCTGTCTCTATCCACTTAGACCCTCCCAGTGCAGGGTCCTGCTCCACCCCCTGCAGGAAGCCCTCCAGACTGCACCTGTGTGTGGACTCCTCCAAGTCCGGCAGCCCCTGGAGGGGCCCGTGACACTGTTCTCCCCTCCTGTGGCCCTGTGCCTCCTCCCCGCAGGGCCTGGACTGTGCAGGCTCAGCACACTGGGGACTGAGGAGACGGGGTCTCTTGGCAGGAGGCACAGGCAGAGCCAGGTCGGAAGGTGCTTCCCCCGCAGGTCCCCCTTGAGGGCAGCAGTGATGCAGTCAGTGCTCGGGGGTGCTGGGCTGGACTGCAGCTCCCAGGAGCGTGCGGGAGGCGTGCTGGGGAACATGTCCACATCTGGCCACAGCCCGCCTCCCAGACGGCCATCTCATCCGTGAAGCAGGATGAACTTCAGACTTGGCGCTCCTTCTGTAGGGTGGAGGAGGGCAGGGGTCCGGGGCCCCTGGTGACCCCACCTCGTTGGGCCCAGGCCCCTGACAGCCCCCTCGCCCCCAGGTCGCCCTCATCCACTTCTTCTTCAACCTGGCCGGCATCCTGCTGTGGTACCTGGTGCCTGCACTGTGGCTGCCCATCCCGCTGGCCAGGCACTTCGGGGTGGTGACCGCCCGTTACCGCTGGGTGGCTGGGGTCTACCTGCTGCTCGGATTCCTGCTGCTGCCCCTGGCGGCCTTCGGGCTCTCCCTGGCAGGGGGCATGGAGCTGGCCGCTGTCGGGGGTCCCCTGGTGGGGCTGGTGCTCCTCGTCATCCTGGTTACTGTCCTGCAGCGGCGCCGGCCGGCCTGGCTGCCTGTCCGCCTGCGCTCCTGGGCCTGGCTCCCCGTCTGGCTCCATTCTCTGGAGCCCTGGGACCGCCTGGTGACCCGCTGCTGCCCCTGCAACGTCTGCAGCCCCCCGAAGGCCACCACCAAAGAGGCCTACTGCTACGAGAACCCTGAGATCTTGGCCTCCCAGCAGTTGTGACGGGCAGTTGCTGAGCAGACCGCCCCACCCTCCCCGGCTGGGAGGGCTCTGGAGGGCCCTGGAGGGGGGGTCCCCGCGGCAGCTGACCTCCGGTCACCTGCTTCCCCTTCTGTGCAAATAAACCAGGCTGTTATCTGGGGTGGCGGTCCTCACTCCCCTAGACAGGGGCCGCCTGCGCAGGTGGGGGAAGCAGCCCGATGCTGCCTCCTGGTGGACACTCCGGGGCCTGGGGCTCAGGCACAGGAGCCCGCCCACCCCAAGGTGTGTTTCTCACGGCAGCCGCTGGGGACAGAAGCTCCCAAGGAATGGCGGGCCTGGGGGGGCGGGGACTTCCCACAGTGGGAGCTGGGGCCCCTCCTGGGGGCGCAGGGGAGAGCCCAGCCAGCAGGGAGCAGGGCCGGTGGTGCAGGGTGTGGGGGATCCCGGAGCTCCTCTGCCCCGGCGGATGTCATGGTTGGGGTGGGGACTGGAGTCCCATCAGGTGCGTGGGGTGTGAGAAGGGACCCTGACGGCTTGGAGGGCCAGGTGGTCCCAGAGGCACCACCTGTCTGTCTGCCCTCTGTGTCTCTCAGCCGGTCCTGGGCTGGGCCCCTCGGGGACACTTCTCTGCAGGGCTGGGCCACGGCAGGTGCTCAGCTCCCAGAACCCACCAGGAAGCCAGTCTCACCCGCCAGGCTGGGGCACACTGAGGCCTCCCACTGCCACGGAGAATGAGACCCTGTCCCGGGAAGGCCTGTCCGTGGGGTGGGCCCAGGAGGGCGGACAGCACCCATGGGGAGGACTTGGGGGCCAGGGGGCCCTCCCTCTGCTGTGTGGTCGGGTTTCCACACAGGAAGGCTTGTCTGCCAGCCAATGGGTAACTGGACACCTAGGAAGTTGAGGGGGGGCTCCTGCCACCTCTAGCCCAGAGCTGCCCACAGCCCTAACCCAACCCCCACTCCCGCCAAGGGAAGAAAGCCTTGGGTTACCCCAGAACTGGAGCATTCATTCAGGCACACAGAGACGGGTGGGTGAGGGGACGGTCCCATCAGGGACAGGTCTAGTTTGCTCATTTGAGTCTGCTGCTGTGGCCAGTCACGTTCTCCCTTCCAGAACTGCAGCCCTGTTGGGGGGCAGCTCTCTTCCCAGAGCCTCCCAGGATTGCCTGGTCAGACCCCACTAGGGGATAGAGGTGCAGCCACTCAGGAAGATGAGGCCTGAGGGGGCCCCACGGCCACTTCTCCTCTGTGGCTCTGTTCTTTTCTGCCCTCAGTTTCCCTTTGCCCCTGCTCATGACCCCCAGACCCTCTGTGCCCTTGGCCCCCAGTCTTCCCTGGGTCCTCTGCCCCAGCCACCCCTCAAACTCTTAGGCCTCCTGGGCCTTGGTTTCACCTACCGAGGGAGGTGACCACCTGCTCTGGGAGCCAGGGGTGCCTCAGGGGTGGGCTCCAGTGAGAATGGGACCCCCAGCAGCTAGAGCTTTGGTTCTCACAGCCCTGTGATTCTAGGACGCCCCTGTGGACCTGACATCAGCCTCATAGAACCGTCTGGCACCCCTGTAGGGGACAAGCCTGGCTAGCTCCCTGGGGAGCCTGAGGGGCCGGGGAGCTCCCCTGTCCTTTGGGGGGGGATCAGTGAGGCCCTTGTGGAGAGAGGGAGGAAGCACCCCA
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Task1_train_13617
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This mutation occurs in EHMT1 (euchromatic histone lysine methyltransferase 1) on Chromosome 9. Does this change lead to a known medical condition, or is it benign?
|
Pathogenic; Kleefstra syndrome 1
|
GGATGGAGTGTGTGTTTGGCTGCTGGGGAAGGACAGGGAACTGTGGGTGCTCCAGGCACCAGCCTCCAGTGACTCCCTGGCCCCTACACATGGGGCTGTGCCCTCCCACATGTGGATCTCACGGTGGCTCAGCCAGGTTGGTCATCTGGTTGTGTGAAGCCCAGCTCCACGTACGATGACTGCAGTCTGGATGCAGTGAGCAGGAGTGGAACTGAGGACTGCTCACGCTGTGCGTGGCCCAAGCTTGGCCTCTCTCCCTCCTTGCTTCCCTTCTTATCCTTGAGGGTAAATTTGAATGAAAAATCCAAGAAAAATCAAATGCCGCCCTGGATTTTACACTCTTCCTGCTAAGAAAACAGCCTGCTGACTTTGACAGTGAATGTGGGAGAGGAGGAAGGGAATCATGTTCCTGGGTGAGCTAAAGCCCGTCTTTGCAGAGTCATTGCTGAGCAGACTTGTTCAAGTTATCTCACAGTGAATAGTGTTCCCTTTATTGTTAGTGATGACGGACATTTTATAAATCTCATCTGTATCACATTTTCAAGTCAGCTTTAAATGTTTTGTGGCCTTACATTTTCCCTTTTAGCCTCTTTCTTTCTCGGGATTCAGATGTCACCTTAAAGAACAAGGAAGGAGAGACGCCCCTGCAGTGTGCGAGCCTCAACTCTCAGGTGTGGAGCGCTCTGCAGATGAGCAAGGCTCTGCAGGACTCGGCCCCCGACAGGCCCAGCCCCGTGGAGAGGATAGTGAGCAGGTGAGCCCAGCCCCAGGACGGCTTTGTGGCAAATCAGCGGTCAGCAGGGCTTTGGGAACTTGCGGTGAAAGCTGCTCCTGAAGCCGAAACATCCCCAGGCTGCAGTCCAAATTGTCAGGGCCAGGTGTTTGCCAGCCGCCCCACTGCACGCTGTGCCACCCCCTGGGCAGAGCACGTCAGCCACCAGGTGACACCTGTCCTTTCCATGGCAGGGACATCGCTCGAGGCTACGAGCGCATCCCCATCCCCTGTGTCAACGCCGTGGACAGCGAGCCATGCCCCAGCAACTACAAGTACGTCTCTCAGAACTGCGTGACGTCCCCCATGAACATCGACAGAAATATCACTCATCTGCAGGTGAGTGACGGCAGATGAAGGGCTGACTCAGGCCAGGACATGGGACAGGCAGAAGCTTCTTGAGCCTGGGGTCCTGGGTTCTCACCACTCAGAGCAGGAGGGCTTATGGGGGGCTTCCCAGGAAGACCTCATTCTCTTTGTAGTTGCCTCCCGTGAAAGAGCTGGAAGGCAGATAAAGGTTCTGTCAGGCCCAGCCCTGGGCCCTCTCATTGCTCTTCCAAGGCTTCTTACCGACCCAAAGCAGTGGCAGGCATCTTTGTGCCTTTTTTGTAACCTCACACTCAGGGGCCCCGGTGTGGCTTCGTGCTGGGGGCACAGGCGAGAGGAGCCCTTGCGAGGCCTGCAGGACGACCTGGATCCCTGCACCTCCCAGCCCCCGGAGAGATGGGTCCAGCACATGCCAGCTTTCCCAGCCTCCGAGTGCATGCAGCCTGGTGCCCTCACTGCTTGCGCCTTCTCGAGCACTTTCCTTGTGGCTCTGCTTGTGGGCAGCTCCCTCCTCTTCCCAGGCCGGGCACTGCCCAGGCCCCCCCCCCCCCCCGCCCCCCGCCCCACAAGGTGTGTCAGGCTCTGTGTTCTTGCCTTTCCCATCGAGCATCTGGCCACAAATGCAGCCGCCGCCCAGCCCTTCACCCACCCCACGTCACCCACTGCCGCGTCGCTGCCCTGCCTGCCCCCTGTCCCTCTGTCAGGGTCCTCAGCCAGAGCTCCCTCCCACAGGCACTCGACATGTTTCTGCCTGCACAGCCTTCTCCCTAAGAGGCCACACACTCACGTGGTGCCTTTGAGAAGCACTTACCAGAATCAGGGTTAACAGAACTGGAAGACGTAGTTGTGACTGGGAGGGGAAATGGAAGGCCTGTGCCTGCACGTCTGACCCCCCGGCGCCTCTCTTCTCAGTACTGCGTGTGCATCGACGACTGCTCCTCCAGCAACTGCATGTGCGGCCAGCTCAGCATGCGCTGCTGGTACGACAAGGTGAGGGCGGCCTCGTGTGCGTGGGCTCAGGTGGTAAGTGCCGCTGGTCCGGGTCTGCAAAAACAGTGCAGGCGTCTGTGACCCCAGCGCTGTCGTGGCAGCGTCGGGAAGGAGTTGGAGGTGAGCTGGGTGTGACAGGCAGGGGAGGCACAGCGGGCACCAGCACCCGAGTCAGGGTCGTGAGCCGAGGACATGGCTGCGGATTCCCTGGGGCTGGGGTCTGCATCCTTTGTGGCTGCCTGGATGGTGGCGGGGGTGGGCAGCGTCAGCCTGGCTTGGCCCCAGGAGGAGGTGCTGCTTATGTTGTGTGTATCTGGTAAGCTGTGCCTTGTGCTTGCTGAGTGTGAGGGGTGTGAAGAGGGAGGGTGCTGCCGGGCTGGGTACAGGGAGCATCAGTGTGGGCGCTGGGCTTGAGGAGACACAGGATTGGAAGTTTCTGTTGGGTGCTGGTCCTCGGAGGAGCCCAGGTTGGAGGCTGCTGAGGAGGAGACGGGAGTGGGGAGTAGCCCTGGCTAGCAGGGGTGCAATTCAGGGGAGGGATGTCTAAGCAGAGGCGGAGAGTTCCTGGTCTCCCGAGTTCAGAGGTCACGGTGGGGGCGGAAGCCAGCATGGCCTGGGTAAAGAGACGCGAGCAGGGAGAGGCAACAGGCGTCCCCTCTGGAAGCAGACTTTGGAGGAGAGTGGACATGGAGGGTCAAGTGTTTACCCATCTGAATTAGAGGCTCCAATGGGAAAAGGATTCGTGCCAGTGAGGGCTATGGAGATGGTACGCTCAGAAAGCCACCAAGCTCATGTCCGAGTGGTGTCTTTTCAGGTGGACAGTGTTGCTGAGGGGGCGCAGGAAGGAATGTTCTGAGGAGCGCCCTAATTGTTCAGAGCAGCCCCTGAAGCCGTCAAGCCAGAGTGTGCCTGGGCAGCCCTGGGCCCCGCGCCTCAGCTCACACAGCCCTGGGGGAGCATCTGCACCCAGTGCTGCTGTACCTGGCCTGGCTTCAGGGGGGTAGAAAGGGGAGCAGAGGGCTGGGTCCCTCCACAGTTGAGGATTTGCAAGGCAAGGAGGCCAGGAGTGCAGGAGGGTGCAGGAGGCCCCAACCAGCTGAAGAAAGCAGAGCAACCCAGGAGCTGGCAGCCTCGGTGAGGCTGGAGAAGCCCAGGCTGGGGGCTGGGAAGGCCCTGGGTGGACAGAAGCTGGCCCCAGGCTGGGCCTAGGGGAGCGCTCCAGGGGGTCTCCACAACCTGTGTGGGCATCTGGGTGGAGGCTTCTCATCCAAACCGTACACATGGAGTTTTTCCCTAGGTGGGTGTTCAAGTTTGGCCAGAAACCATCGTTTTTATGTCCGTTTAAGCCACACTGGGCACTTAGTAGAAATGGGTTGATGTCAGTTCAATTAAAGAGTGAGTAACCTCTGCTGGGCCCTTGCTGCTCATCTGTCCACAGGATGGCCGGCTCCTGCCAGAGTTCAACATGGCGGAGCCTCCCTTGATCTTCGAATGCAACCACGCGTGCTCCTGCTGGAGGAACTGCCGAAATCGCGTCGTACAGAATGGTCTCAGGTGAGAGGCAGCTTCCTGCCGGAGCCCCACATTCTGCTCGTATTAGCACGTATTAGCACGGAGGTCACCCCGACAGACAAGAACTTAACGTGTTTGGATGCACGCACATGTGTGTTTGCAGATAGAGCCGACAAGTTACCTGAGCCCTTTATCCTCTAGAAATGTCACTTGTGCCATAAATCACGAGTCATGCTTCCCCCAGCACAGACTTCGGCATGAGAGAAGGAGCAGGTTGTTGGGTCAGTCCAGCTAAAAGCAGAGGAACGGACTTGGCCTAAGAATTACCTTTGTTACCGAGTTCATGCGAACATTCTTCAACAGGTTAGGGCTGTCGTAGTTCTATTTTAATACTCCAGTCATTTTCTAAATATTCTCTGTTCTCTGGGCTTCCCTAACAGTGAGGTGATGTCCCAACGCTTCTCAGGCTGCGTGGACTCCTTGTTCCTGGGTTGC
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GGATGGAGTGTGTGTTTGGCTGCTGGGGAAGGACAGGGAACTGTGGGTGCTCCAGGCACCAGCCTCCAGTGACTCCCTGGCCCCTACACATGGGGCTGTGCCCTCCCACATGTGGATCTCACGGTGGCTCAGCCAGGTTGGTCATCTGGTTGTGTGAAGCCCAGCTCCACGTACGATGACTGCAGTCTGGATGCAGTGAGCAGGAGTGGAACTGAGGACTGCTCACGCTGTGCGTGGCCCAAGCTTGGCCTCTCTCCCTCCTTGCTTCCCTTCTTATCCTTGAGGGTAAATTTGAATGAAAAATCCAAGAAAAATCAAATGCCGCCCTGGATTTTACACTCTTCCTGCTAAGAAAACAGCCTGCTGACTTTGACAGTGAATGTGGGAGAGGAGGAAGGGAATCATGTTCCTGGGTGAGCTAAAGCCCGTCTTTGCAGAGTCATTGCTGAGCAGACTTGTTCAAGTTATCTCACAGTGAATAGTGTTCCCTTTATTGTTAGTGATGACGGACATTTTATAAATCTCATCTGTATCACATTTTCAAGTCAGCTTTAAATGTTTTGTGGCCTTACATTTTCCCTTTTAGCCTCTTTCTTTCTCGGGATTCAGATGTCACCTTAAAGAACAAGGAAGGAGAGACGCCCCTGCAGTGTGCGAGCCTCAACTCTCAGGTGTGGAGCGCTCTGCAGATGAGCAAGGCTCTGCAGGACTCGGCCCCCGACAGGCCCAGCCCCGTGGAGAGGATAGTGAGCAGGTGAGCCCAGCCCCAGGACGGCTTTGTGGCAAATCAGCGGTCAGCAGGGCTTTGGGAACTTGCGGTGAAAGCTGCTCCTGAAGCCGAAACATCCCCAGGCTGCAGTCCAAATTGTCAGGGCCAGGTGTTTGCCAGCCGCCCCACTGCACGCTGTGCCACCCCCTGGGCAGAGCACGTCAGCCACCAGGTGACACCTGTCCTTTCCATGGCAGGGACATCGCTCGAGGCTACGAGCGCATCCCCATCCCCTGTGTCAACGCCGTGGACAGCGAGCCATGCCCCAGCAACTACAAGTACGTCTCTCAGAACTGCGTGACGTCCCCCATGAACATCGACAGAAATATCACTCATCTGCAGGTGAGTGACGGCAGATGAAGGGCTGACTCAGGCCAGGACATGGGACAGGCAGAAGCTTCTTGAGCCTGGGGTCCTGGGTTCTCACCACTCAGAGCAGGAGGGCTTATGGGGGGCTTCCCAGGAAGACCTCATTCTCTTTGTAGTTGCCTCCCGTGAAAGAGCTGGAAGGCAGATAAAGGTTCTGTCAGGCCCAGCCCTGGGCCCTCTCATTGCTCTTCCAAGGCTTCTTACCGACCCAAAGCAGTGGCAGGCATCTTTGTGCCTTTTTTGTAACCTCACACTCAGGGGCCCCGGTGTGGCTTCGTGCTGGGGGCACAGGCGAGAGGAGCCCTTGCGAGGCCTGCAGGACGACCTGGATCCCTGCACCTCCCAGCCCCCGGAGAGATGGGTCCAGCACATGCCAGCTTTCCCAGCCTCCGAGTGCATGCAGCCTGGTGCCCTCACTGCTTGCGCCTTCTCGAGCACTTTCCTTGTGGCTCTGCTTGTGGGCAGCTCCCTCCTCTTCCCAGGCCGGGCACTGCCCAGGCCCCCCCCCCCCCCCGCCCCCCGCCCCACAAGGTGTGTCAGGCTCTGTGTTCTTGCCTTTCCCATCGAGCATCTGGCCACAAATGCAGCCGCCGCCCAGCCCTTCACCCACCCCACGTCACCCACTGCCGCGTCGCTGCCCTGCCTGCCCCCTGTCCCTCTGTCAGGGTCCTCAGCCAGAGCTCCCTCCCACAGGCACTCGACATGTTTCTGCCTGCACAGCCTTCTCCCTAAGAGGCCACACACTCACGTGGTGCCTTTGAGAAGCACTTACCAGAATCAGGGTTAACAGAACTGGAAGACGTAGTTGTGACTGGGAGGGGAAATGGAAGGCCTGTGCCTGCACGTCTGACCCCCCGGCGCCTCTCTTCTCAGTACTGCGTGTGCATCGACGACTGCTCCTCCAGCAACTACATGTGCGGCCAGCTCAGCATGCGCTGCTGGTACGACAAGGTGAGGGCGGCCTCGTGTGCGTGGGCTCAGGTGGTAAGTGCCGCTGGTCCGGGTCTGCAAAAACAGTGCAGGCGTCTGTGACCCCAGCGCTGTCGTGGCAGCGTCGGGAAGGAGTTGGAGGTGAGCTGGGTGTGACAGGCAGGGGAGGCACAGCGGGCACCAGCACCCGAGTCAGGGTCGTGAGCCGAGGACATGGCTGCGGATTCCCTGGGGCTGGGGTCTGCATCCTTTGTGGCTGCCTGGATGGTGGCGGGGGTGGGCAGCGTCAGCCTGGCTTGGCCCCAGGAGGAGGTGCTGCTTATGTTGTGTGTATCTGGTAAGCTGTGCCTTGTGCTTGCTGAGTGTGAGGGGTGTGAAGAGGGAGGGTGCTGCCGGGCTGGGTACAGGGAGCATCAGTGTGGGCGCTGGGCTTGAGGAGACACAGGATTGGAAGTTTCTGTTGGGTGCTGGTCCTCGGAGGAGCCCAGGTTGGAGGCTGCTGAGGAGGAGACGGGAGTGGGGAGTAGCCCTGGCTAGCAGGGGTGCAATTCAGGGGAGGGATGTCTAAGCAGAGGCGGAGAGTTCCTGGTCTCCCGAGTTCAGAGGTCACGGTGGGGGCGGAAGCCAGCATGGCCTGGGTAAAGAGACGCGAGCAGGGAGAGGCAACAGGCGTCCCCTCTGGAAGCAGACTTTGGAGGAGAGTGGACATGGAGGGTCAAGTGTTTACCCATCTGAATTAGAGGCTCCAATGGGAAAAGGATTCGTGCCAGTGAGGGCTATGGAGATGGTACGCTCAGAAAGCCACCAAGCTCATGTCCGAGTGGTGTCTTTTCAGGTGGACAGTGTTGCTGAGGGGGCGCAGGAAGGAATGTTCTGAGGAGCGCCCTAATTGTTCAGAGCAGCCCCTGAAGCCGTCAAGCCAGAGTGTGCCTGGGCAGCCCTGGGCCCCGCGCCTCAGCTCACACAGCCCTGGGGGAGCATCTGCACCCAGTGCTGCTGTACCTGGCCTGGCTTCAGGGGGGTAGAAAGGGGAGCAGAGGGCTGGGTCCCTCCACAGTTGAGGATTTGCAAGGCAAGGAGGCCAGGAGTGCAGGAGGGTGCAGGAGGCCCCAACCAGCTGAAGAAAGCAGAGCAACCCAGGAGCTGGCAGCCTCGGTGAGGCTGGAGAAGCCCAGGCTGGGGGCTGGGAAGGCCCTGGGTGGACAGAAGCTGGCCCCAGGCTGGGCCTAGGGGAGCGCTCCAGGGGGTCTCCACAACCTGTGTGGGCATCTGGGTGGAGGCTTCTCATCCAAACCGTACACATGGAGTTTTTCCCTAGGTGGGTGTTCAAGTTTGGCCAGAAACCATCGTTTTTATGTCCGTTTAAGCCACACTGGGCACTTAGTAGAAATGGGTTGATGTCAGTTCAATTAAAGAGTGAGTAACCTCTGCTGGGCCCTTGCTGCTCATCTGTCCACAGGATGGCCGGCTCCTGCCAGAGTTCAACATGGCGGAGCCTCCCTTGATCTTCGAATGCAACCACGCGTGCTCCTGCTGGAGGAACTGCCGAAATCGCGTCGTACAGAATGGTCTCAGGTGAGAGGCAGCTTCCTGCCGGAGCCCCACATTCTGCTCGTATTAGCACGTATTAGCACGGAGGTCACCCCGACAGACAAGAACTTAACGTGTTTGGATGCACGCACATGTGTGTTTGCAGATAGAGCCGACAAGTTACCTGAGCCCTTTATCCTCTAGAAATGTCACTTGTGCCATAAATCACGAGTCATGCTTCCCCCAGCACAGACTTCGGCATGAGAGAAGGAGCAGGTTGTTGGGTCAGTCCAGCTAAAAGCAGAGGAACGGACTTGGCCTAAGAATTACCTTTGTTACCGAGTTCATGCGAACATTCTTCAACAGGTTAGGGCTGTCGTAGTTCTATTTTAATACTCCAGTCATTTTCTAAATATTCTCTGTTCTCTGGGCTTCCCTAACAGTGAGGTGATGTCCCAACGCTTCTCAGGCTGCGTGGACTCCTTGTTCCTGGGTTGC
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Task1_train_13618
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This alteration occurs within gene EHMT1 (euchromatic histone lysine methyltransferase 1) located on Chromosome 9. Is it associated with a disease or is it a benign variant?
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Pathogenic; Kleefstra syndrome 1
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CACTGCTTGCGCCTTCTCGAGCACTTTCCTTGTGGCTCTGCTTGTGGGCAGCTCCCTCCTCTTCCCAGGCCGGGCACTGCCCAGGCCCCCCCCCCCCCCCGCCCCCCGCCCCACAAGGTGTGTCAGGCTCTGTGTTCTTGCCTTTCCCATCGAGCATCTGGCCACAAATGCAGCCGCCGCCCAGCCCTTCACCCACCCCACGTCACCCACTGCCGCGTCGCTGCCCTGCCTGCCCCCTGTCCCTCTGTCAGGGTCCTCAGCCAGAGCTCCCTCCCACAGGCACTCGACATGTTTCTGCCTGCACAGCCTTCTCCCTAAGAGGCCACACACTCACGTGGTGCCTTTGAGAAGCACTTACCAGAATCAGGGTTAACAGAACTGGAAGACGTAGTTGTGACTGGGAGGGGAAATGGAAGGCCTGTGCCTGCACGTCTGACCCCCCGGCGCCTCTCTTCTCAGTACTGCGTGTGCATCGACGACTGCTCCTCCAGCAACTGCATGTGCGGCCAGCTCAGCATGCGCTGCTGGTACGACAAGGTGAGGGCGGCCTCGTGTGCGTGGGCTCAGGTGGTAAGTGCCGCTGGTCCGGGTCTGCAAAAACAGTGCAGGCGTCTGTGACCCCAGCGCTGTCGTGGCAGCGTCGGGAAGGAGTTGGAGGTGAGCTGGGTGTGACAGGCAGGGGAGGCACAGCGGGCACCAGCACCCGAGTCAGGGTCGTGAGCCGAGGACATGGCTGCGGATTCCCTGGGGCTGGGGTCTGCATCCTTTGTGGCTGCCTGGATGGTGGCGGGGGTGGGCAGCGTCAGCCTGGCTTGGCCCCAGGAGGAGGTGCTGCTTATGTTGTGTGTATCTGGTAAGCTGTGCCTTGTGCTTGCTGAGTGTGAGGGGTGTGAAGAGGGAGGGTGCTGCCGGGCTGGGTACAGGGAGCATCAGTGTGGGCGCTGGGCTTGAGGAGACACAGGATTGGAAGTTTCTGTTGGGTGCTGGTCCTCGGAGGAGCCCAGGTTGGAGGCTGCTGAGGAGGAGACGGGAGTGGGGAGTAGCCCTGGCTAGCAGGGGTGCAATTCAGGGGAGGGATGTCTAAGCAGAGGCGGAGAGTTCCTGGTCTCCCGAGTTCAGAGGTCACGGTGGGGGCGGAAGCCAGCATGGCCTGGGTAAAGAGACGCGAGCAGGGAGAGGCAACAGGCGTCCCCTCTGGAAGCAGACTTTGGAGGAGAGTGGACATGGAGGGTCAAGTGTTTACCCATCTGAATTAGAGGCTCCAATGGGAAAAGGATTCGTGCCAGTGAGGGCTATGGAGATGGTACGCTCAGAAAGCCACCAAGCTCATGTCCGAGTGGTGTCTTTTCAGGTGGACAGTGTTGCTGAGGGGGCGCAGGAAGGAATGTTCTGAGGAGCGCCCTAATTGTTCAGAGCAGCCCCTGAAGCCGTCAAGCCAGAGTGTGCCTGGGCAGCCCTGGGCCCCGCGCCTCAGCTCACACAGCCCTGGGGGAGCATCTGCACCCAGTGCTGCTGTACCTGGCCTGGCTTCAGGGGGGTAGAAAGGGGAGCAGAGGGCTGGGTCCCTCCACAGTTGAGGATTTGCAAGGCAAGGAGGCCAGGAGTGCAGGAGGGTGCAGGAGGCCCCAACCAGCTGAAGAAAGCAGAGCAACCCAGGAGCTGGCAGCCTCGGTGAGGCTGGAGAAGCCCAGGCTGGGGGCTGGGAAGGCCCTGGGTGGACAGAAGCTGGCCCCAGGCTGGGCCTAGGGGAGCGCTCCAGGGGGTCTCCACAACCTGTGTGGGCATCTGGGTGGAGGCTTCTCATCCAAACCGTACACATGGAGTTTTTCCCTAGGTGGGTGTTCAAGTTTGGCCAGAAACCATCGTTTTTATGTCCGTTTAAGCCACACTGGGCACTTAGTAGAAATGGGTTGATGTCAGTTCAATTAAAGAGTGAGTAACCTCTGCTGGGCCCTTGCTGCTCATCTGTCCACAGGATGGCCGGCTCCTGCCAGAGTTCAACATGGCGGAGCCTCCCTTGATCTTCGAATGCAACCACGCGTGCTCCTGCTGGAGGAACTGCCGAAATCGCGTCGTACAGAATGGTCTCAGGTGAGAGGCAGCTTCCTGCCGGAGCCCCACATTCTGCTCGTATTAGCACGTATTAGCACGGAGGTCACCCCGACAGACAAGAACTTAACGTGTTTGGATGCACGCACATGTGTGTTTGCAGATAGAGCCGACAAGTTACCTGAGCCCTTTATCCTCTAGAAATGTCACTTGTGCCATAAATCACGAGTCATGCTTCCCCCAGCACAGACTTCGGCATGAGAGAAGGAGCAGGTTGTTGGGTCAGTCCAGCTAAAAGCAGAGGAACGGACTTGGCCTAAGAATTACCTTTGTTACCGAGTTCATGCGAACATTCTTCAACAGGTTAGGGCTGTCGTAGTTCTATTTTAATACTCCAGTCATTTTCTAAATATTCTCTGTTCTCTGGGCTTCCCTAACAGTGAGGTGATGTCCCAACGCTTCTCAGGCTGCGTGGACTCCTTGTTCCTGGGTTGCTCAGGACGCTCATGGAGTAAGGCTTGCCCAGCGCCCTTCCCCAGCTGGGCTTGGTCCCCTGACCGCCCAGCAGCTGCGTCTCCTTTCCCTGGATTCTGGTCTTGAGCATTTCCTCCGCAAATGTGCCCGAGATTGGAGAAGTCAAAGCTCCTCTGAGTCATAAGGGAAAGTTATGCACACTTAAATTTAGCTGAACACTCATTTTTATAGTATTGACTTTTTTGTGACCTCGATAAACTTGGTTCATGGTGAAAGGCAGTCTCTGTCCTTGGTATGGTAGAAAGGCCTGGTGGTGAGGACCCACGCCAGACAGACGCGAGGCAGACACGGGACACATGCCAGATGGGCAGACGCGAGGCACGTGGTTCTGAGGGCTCCTCAGAGGCCCACATGCCAGGACCGCCCAGCCGCCCTCCTCCAGATCTACCCGGCCACCCTCCCCCAGGCCTGCCCAACCACCTTCCCCCAGCCCTGAGAAACCCTCGACCGCCACCTCCCCTGCCACCCTCCCCCAGCCCTGAGGGGCCTGTGGGCTCCTTGTCGGGAGCAGGCTGGGCTGCAGGTGTCACCACAGCCTGGTCCAGCTATAGGCTTCTCTAGTATTAGCACCTCTGCCCCTCACAGTGCCTAGTGGCCCAGGCCCAGCTCTGTCCCCATGTTACAGATGGGGACACCGAGCCACGGCCAGGACCAGTGACTTGCCGAGGTTGTGGGCTGGGGTGCTCCTGGCTGATCCCCGGGTTCTTGGCTCCCTGAGAGTGCGAGATGCCGTGTCTGTGAGGTGCCTGCAGCATCGAACGCTTCGGATACAGAACCAGTTTTCTTCCTCATTTCAGTGACGTGGCACCAGCTGGCTTTTGCTGACCATTGTGGCAACAGGCTGAGGCTGTGGCCTGGGTTCACCACTACTCTCTATTTTTCAGGGCAAGGCTGCAGCTCTACCGGACGCGGGACATGGGCTGGGGCGTGCGGTCCCTGCAGGACATCCCACCAGGCACCTTTGTCTGCGAGTGAGTGAGTCCCTGGGTCACCCCAAGCCTGGTGTCATTTCTGGGACGGAGGCCCATCTGTGTCTGTACTTCAGGAAGCCCCTCTGGGAGCAGGCACATCCCTGGCGTACAGCAGCGTGGGGTGGGGGCCACAGAGACCCTGGCCCCGAGAACCAAGCTCGTGCTGTCCTCAGTCCTCTTGCTGCTGCCCGTAACCAGCCCAGGAGTGCATTTAAGAAGGCGTGGTCCAGTTAGGAAGGCGTGGTCCAGTTAGGAAGGCGTGGTCCAGCATGGGCAGTCATCTCTAGGGGAGGACCATTCTGGGTTCTCAGGTACCAGACCGCAGACGCAGAGCTTTCGGTATCGTTATCATCATCCTCCGGACCCTCAGCTGAAACCCCAGTTCAACCCTGGGCACACCTCTCTAAACATGTTCCCTGCATGTTCTTCTGGTGTGCCCTGCTCTTTCCCTGTGGCTGCGGAGTCTGGGCTGTGCTTGTCTGTGGGCAGTGCTCGCTGCCTTCCAGGGCCTCACCTGCACCGCACCCTCTGCAGGTATGTTG
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CACTGCTTGCGCCTTCTCGAGCACTTTCCTTGTGGCTCTGCTTGTGGGCAGCTCCCTCCTCTTCCCAGGCCGGGCACTGCCCAGGCCCCCCCCCCCCCCCGCCCCCCGCCCCACAAGGTGTGTCAGGCTCTGTGTTCTTGCCTTTCCCATCGAGCATCTGGCCACAAATGCAGCCGCCGCCCAGCCCTTCACCCACCCCACGTCACCCACTGCCGCGTCGCTGCCCTGCCTGCCCCCTGTCCCTCTGTCAGGGTCCTCAGCCAGAGCTCCCTCCCACAGGCACTCGACATGTTTCTGCCTGCACAGCCTTCTCCCTAAGAGGCCACACACTCACGTGGTGCCTTTGAGAAGCACTTACCAGAATCAGGGTTAACAGAACTGGAAGACGTAGTTGTGACTGGGAGGGGAAATGGAAGGCCTGTGCCTGCACGTCTGACCCCCCGGCGCCTCTCTTCTCAGTACTGCGTGTGCATCGACGACTGCTCCTCCAGCAACTGCATGTGCGGCCAGCTCAGCATGCGCTGCTGGTACGACAAGGTGAGGGCGGCCTCGTGTGCGTGGGCTCAGGTGGTAAGTGCCGCTGGTCCGGGTCTGCAAAAACAGTGCAGGCGTCTGTGACCCCAGCGCTGTCGTGGCAGCGTCGGGAAGGAGTTGGAGGTGAGCTGGGTGTGACAGGCAGGGGAGGCACAGCGGGCACCAGCACCCGAGTCAGGGTCGTGAGCCGAGGACATGGCTGCGGATTCCCTGGGGCTGGGGTCTGCATCCTTTGTGGCTGCCTGGATGGTGGCGGGGGTGGGCAGCGTCAGCCTGGCTTGGCCCCAGGAGGAGGTGCTGCTTATGTTGTGTGTATCTGGTAAGCTGTGCCTTGTGCTTGCTGAGTGTGAGGGGTGTGAAGAGGGAGGGTGCTGCCGGGCTGGGTACAGGGAGCATCAGTGTGGGCGCTGGGCTTGAGGAGACACAGGATTGGAAGTTTCTGTTGGGTGCTGGTCCTCGGAGGAGCCCAGGTTGGAGGCTGCTGAGGAGGAGACGGGAGTGGGGAGTAGCCCTGGCTAGCAGGGGTGCAATTCAGGGGAGGGATGTCTAAGCAGAGGCGGAGAGTTCCTGGTCTCCCGAGTTCAGAGGTCACGGTGGGGGCGGAAGCCAGCATGGCCTGGGTAAAGAGACGCGAGCAGGGAGAGGCAACAGGCGTCCCCTCTGGAAGCAGACTTTGGAGGAGAGTGGACATGGAGGGTCAAGTGTTTACCCATCTGAATTAGAGGCTCCAATGGGAAAAGGATTCGTGCCAGTGAGGGCTATGGAGATGGTACGCTCAGAAAGCCACCAAGCTCATGTCCGAGTGGTGTCTTTTCAGGTGGACAGTGTTGCTGAGGGGGCGCAGGAAGGAATGTTCTGAGGAGCGCCCTAATTGTTCAGAGCAGCCCCTGAAGCCGTCAAGCCAGAGTGTGCCTGGGCAGCCCTGGGCCCCGCGCCTCAGCTCACACAGCCCTGGGGGAGCATCTGCACCCAGTGCTGCTGTACCTGGCCTGGCTTCAGGGGGGTAGAAAGGGGAGCAGAGGGCTGGGTCCCTCCACAGTTGAGGATTTGCAAGGCAAGGAGGCCAGGAGTGCAGGAGGGTGCAGGAGGCCCCAACCAGCTGAAGAAAGCAGAGCAACCCAGGAGCTGGCAGCCTCGGTGAGGCTGGAGAAGCCCAGGCTGGGGGCTGGGAAGGCCCTGGGTGGACAGAAGCTGGCCCCAGGCTGGGCCTAGGGGAGCGCTCCAGGGGGTCTCCACAACCTGTGTGGGCATCTGGGTGGAGGCTTCTCATCCAAACCGTACACATGGAGTTTTTCCCTAGGTGGGTGTTCAAGTTTGGCCAGAAACCATCGTTTTTATGTCCGTTTAAGCCACACTGGGCACTTAGTAGAAATGGGTTGATGTCAGTTCAATTAAAGAGTGAGTAACCTCTGCTGGGCCCTTGCTGCTCATCTGTCCACAGGATGGCCGGCTCCTGCCAGAGTTCAACATGGCGGAGCCTCCCTTGATCTTCGAATGCAACCACGCGTGCTCCTCCTGGAGGAACTGCCGAAATCGCGTCGTACAGAATGGTCTCAGGTGAGAGGCAGCTTCCTGCCGGAGCCCCACATTCTGCTCGTATTAGCACGTATTAGCACGGAGGTCACCCCGACAGACAAGAACTTAACGTGTTTGGATGCACGCACATGTGTGTTTGCAGATAGAGCCGACAAGTTACCTGAGCCCTTTATCCTCTAGAAATGTCACTTGTGCCATAAATCACGAGTCATGCTTCCCCCAGCACAGACTTCGGCATGAGAGAAGGAGCAGGTTGTTGGGTCAGTCCAGCTAAAAGCAGAGGAACGGACTTGGCCTAAGAATTACCTTTGTTACCGAGTTCATGCGAACATTCTTCAACAGGTTAGGGCTGTCGTAGTTCTATTTTAATACTCCAGTCATTTTCTAAATATTCTCTGTTCTCTGGGCTTCCCTAACAGTGAGGTGATGTCCCAACGCTTCTCAGGCTGCGTGGACTCCTTGTTCCTGGGTTGCTCAGGACGCTCATGGAGTAAGGCTTGCCCAGCGCCCTTCCCCAGCTGGGCTTGGTCCCCTGACCGCCCAGCAGCTGCGTCTCCTTTCCCTGGATTCTGGTCTTGAGCATTTCCTCCGCAAATGTGCCCGAGATTGGAGAAGTCAAAGCTCCTCTGAGTCATAAGGGAAAGTTATGCACACTTAAATTTAGCTGAACACTCATTTTTATAGTATTGACTTTTTTGTGACCTCGATAAACTTGGTTCATGGTGAAAGGCAGTCTCTGTCCTTGGTATGGTAGAAAGGCCTGGTGGTGAGGACCCACGCCAGACAGACGCGAGGCAGACACGGGACACATGCCAGATGGGCAGACGCGAGGCACGTGGTTCTGAGGGCTCCTCAGAGGCCCACATGCCAGGACCGCCCAGCCGCCCTCCTCCAGATCTACCCGGCCACCCTCCCCCAGGCCTGCCCAACCACCTTCCCCCAGCCCTGAGAAACCCTCGACCGCCACCTCCCCTGCCACCCTCCCCCAGCCCTGAGGGGCCTGTGGGCTCCTTGTCGGGAGCAGGCTGGGCTGCAGGTGTCACCACAGCCTGGTCCAGCTATAGGCTTCTCTAGTATTAGCACCTCTGCCCCTCACAGTGCCTAGTGGCCCAGGCCCAGCTCTGTCCCCATGTTACAGATGGGGACACCGAGCCACGGCCAGGACCAGTGACTTGCCGAGGTTGTGGGCTGGGGTGCTCCTGGCTGATCCCCGGGTTCTTGGCTCCCTGAGAGTGCGAGATGCCGTGTCTGTGAGGTGCCTGCAGCATCGAACGCTTCGGATACAGAACCAGTTTTCTTCCTCATTTCAGTGACGTGGCACCAGCTGGCTTTTGCTGACCATTGTGGCAACAGGCTGAGGCTGTGGCCTGGGTTCACCACTACTCTCTATTTTTCAGGGCAAGGCTGCAGCTCTACCGGACGCGGGACATGGGCTGGGGCGTGCGGTCCCTGCAGGACATCCCACCAGGCACCTTTGTCTGCGAGTGAGTGAGTCCCTGGGTCACCCCAAGCCTGGTGTCATTTCTGGGACGGAGGCCCATCTGTGTCTGTACTTCAGGAAGCCCCTCTGGGAGCAGGCACATCCCTGGCGTACAGCAGCGTGGGGTGGGGGCCACAGAGACCCTGGCCCCGAGAACCAAGCTCGTGCTGTCCTCAGTCCTCTTGCTGCTGCCCGTAACCAGCCCAGGAGTGCATTTAAGAAGGCGTGGTCCAGTTAGGAAGGCGTGGTCCAGTTAGGAAGGCGTGGTCCAGCATGGGCAGTCATCTCTAGGGGAGGACCATTCTGGGTTCTCAGGTACCAGACCGCAGACGCAGAGCTTTCGGTATCGTTATCATCATCCTCCGGACCCTCAGCTGAAACCCCAGTTCAACCCTGGGCACACCTCTCTAAACATGTTCCCTGCATGTTCTTCTGGTGTGCCCTGCTCTTTCCCTGTGGCTGCGGAGTCTGGGCTGTGCTTGTCTGTGGGCAGTGCTCGCTGCCTTCCAGGGCCTCACCTGCACCGCACCCTCTGCAGGTATGTTG
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Task1_train_13619
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An alteration has been detected in TUBB8 (tubulin beta 8 class VIII) on Chromosome 10. Is it pathogenic, and if so, what disease is involved?
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Pathogenic; Oocyte maturation defect 2
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CGCCTTGCTTGCCAGGCTGGAAGAGGGGCTCCAGAAACTTGGGAAACCTGGGCCTGTAGCTGGCATGTGGAAAAGAGGCCTGGAAAAGCACCATTCCTGTCCATGAAGCCCCCAGATGGAACCAGGTAATTGGGAAATACATGGGCACCAAGCCTGAACCCCCCTCAGACCCAGGTGGGAACTGCAGTGGTGACTTGCCCCCTCTGCCAGTCTGGCTGTACCACTACAGGAGGGAGGAACATCTAGCCCCACACGTGAGTGGAGACACCAGGTGTGGGCAGGTTCCAGTGGTTGCTGCAGCTGAACCTTCCTAACCAGGTCCATGCGAGACCATCTCAGATGGGTGTGCACCTGGGTTGGGCAAGGACACCCCTCAGACAGTGAGAGCCACTGAGGAGGGCTGTCACAGAGGCCCCTTTTCCTGCTCTTAGAACAGGTTGGGCGAGTATGGGGGAGTGTGGGGGAGTATGGGGGAGTATGGGGGACCTCTCCCACCTCCCAGCTGCTTCCAGGAGCCACTTCTTTCGAGATGAGACTCTCCTGCCTGCCTGTTCCCATTTGGCTGCAATAGACCATTGACAACATTCAGAGAACAAGAAGGGGCCTCACCTGTTTTCCCTGACACGTAGGAGGCAGATGGGCATTCCCAGGGGACCTGGGGTAGAGCCTGTTCATCTGCCCACCCCCAAGGCTATGCTGGCTTCATCTTATCTGTGCGATAGGGCTGGGGGTGGGGGTGGGAATTACCAGGAGACCATCACACAGGCCGTGGACAAGTTCTACAAGAGCCAGGGAGAACACTGTCCGTGCATGCGTCCCAGCACCCAGCTCACACATCTCTCATTTGACAGCTTCCCCAAAGCAGGCTTTGCAGTCCAGGCTCCCCAAGAAGCCAGGGGAGGAGACTCTGCCAGGCTGAAGGGTCTGTCCCCAAAGGTGCCACCCTCACCAGGCTCATCCTGACAATCTTGGATTATTTTTGCCCTGAAGTTTTGGAGTGGGGGACAGGGAGAGAGCAGACAGTACACATTAGCCACCTTTCCAGAGAGCATCAGCCCTCCAGACTGGGGCAGGTCAGACCTCCACTCAGGCATTTTTCTCACTGGTTGCCAGTTGGGGGAAGCAGTATTTGTGAGCACCTGCCTGTCTCCCCAGCTCCTGTTCAGAAACCCCATCTGTGCCTTTGGAGGGACTGCCCTGCGCACACAGGCCCAGCAACCACCATCTACGGCCCCCAGGACCTAATCCCCTTCTACTTGGGATTCAGTGCATGTTAGCAGACACTGGGCTTGATTCCTGCCTAGTCCCTGCCAGACATCCCATGCCCACCTCATTAAGAGAATGAGGCCACACAAACACACCCAGGCCATCGTGATGATGGAGTGCCTGGGGTCCCACTTGCCCACCCTTCATTGCTGGTTCAGAGCCAGCTCTGACCACATTCCTACCCTGAGATGGGACTCTGGGGACATTGTCCACCAGGGTCACTGACCCCTTTTAACGTTCCAGAAACATGGCCAGCTGGTCCCCTAGAAGTTTGGTATATGGGATAAGCCAAGGCTTGCCTTCAGCAACAGGTTTTCCACCACGTCACTGCCCAAGGCCCAGGGCATCCCCAAGTTCATGTGAAGCCTGCCTGCCATGTCCACAGCCCATACCGACCCCTCCTGGAGCCACTGGAATGCTTGTTCCTGGGCATGTGATGAACCCAGACAGCTTCCGCCTTGCAGGACAACTATGCGCATCTGGCAGCAGTAGCCAGAGGGCCCATAGAAAGAAGATGGAGGCAAAACCAGATGCTGTGAGAATACTTTATTAGTCAAAACCGCATACTATAAAAATGCTTTAAAACGCAGCAGGAGATGTGAAGACACAAATTAACAAGCGTATAGTGACACATGGCTGTCAGAACACAGTAAAGAATCCACACTGCTTCCCCCCTTTACCTAGAAAAGGAGAGTTCTAGGCCACCTCCTCCTCGGCATACTCCTCATCCTCCTCCTCCTCGGCCGTGGCATCCTGATATTGCTGATATTCAGACACCAGGTCGTTCATGTTGCTCTCGGCCTCGGTGAATTCCATCTCATCCATGCCCTCGCCCGTGTACCAGTGGAGGAAGGCCTTGCGCCTGAACATTGCTGTAAACTGCTCTGAGACACGCTTGAAGAGTTCCTGGATGGCCGTATTATTCCCAATGAAGGTGGCTGACATTTTTAGCCCCCGGGGTGGGATGTCACAGACGGCTGTTTTTACGTTGTTGGGGAGCCAGTCAGCAAAGTAACTGCTGTTCTTATCTTGAATGTTGAACATTTGTTCATCCACCTCCCTCATGGGCATGCGACCCCTGAAAATGGCAGCCGCCGTTAGGTAGCGGCCGTGACGGGGGTCACAGGCAGCCATCATGTTCTTAGCATCAAACATCTGCTGGGTAAGCTCAGCCACAGTCAAGGCCCGGTACTGCTGGCTGCCCCGGCTGGTCAGTGGGGCAAAGCCGGGCATGAAGAAATGCAGCCGGGGAAACGGGACCATGTTCACGGCCAGCTTCCGCAGGTCAGCATTCAGCTGGCCCGGGAAGCGCAGGCACGTGGTGACCCCACTCATGGTAGCAGACACCAGGTGGTTCAGGTCACCATAGGTGGGTGTGGGCAGTTTTAGGGTCTTGGAACATATGTCATACAGAGCTTCGTTATCTATGCAAAAGGTCTCATCTGCGTTTTCTATGAGCTGGTGGACTGAGAGGGTGGCGTTGTAGGGCTCCACCACGGTGTCCGACACCTTGGGCGAGGGCAGGATGCTGAATGTGTTTATGATCCTGTCTGGGTACTCCTCCCGGATCTTACTGAGCAGAAGGGTACCCATCCCAGACCCAGTCCCCCCACCCAGGGAGTGGGTCAGCTGGAAACCCTGCAGGCAGTCACAGCTCTCAGCCTCCTTTCTGACAACGTCCATCACTGACTCCATCAGCTCCGCGCCTTCGGTGTAGTGTCCCTTGGCCCAGTTGTTTCCGGCCCCACACTGACCTGTAAGACAGCACAGCCGGTCACTCGACGGCCAGGTATACGGTCATCAGTGGTCACCACCATAATGCAGAAAGAGCCAAGCGTCACACGTGAGGTGAGAGCACCGTTCGCCCTGCAGGTGGAGCAGATGAAACCCCCTCCCCCAGAGTTACAGGACAGCAGCTTCCCCTGTTAGGAATTAAGACAGGAGTCAAACCTGAGACGGGTTCACAGACCTCGCTGCAGGTGGCTCCTGCCCATTCTCAGGAAAGGCAGTAGCCACGGCCCCAGCTCAGGTTCTTGCAGGGAGTTTACATCAGTAACTCCTCACCTTGAGGAGACACCAGGGCCTTCCTCCCGAAGCCCATTTAGGAGAGGCAGATTGAGCGACTCGACTCGGAGGATAGGAGGGTGTTCAGGGGCCCTAGCTCCACAGTTCCCAGAGGATGACCTTAGCACACTCCTGGATTTTGAGCTGCCCTGGCTAAGGAGCCGCACCCCAGTCCTCGCCCGCAGCTCACCGAAGATGAAGTTGTCTGGCCTGAAGACCTGCCCGAAGGGCCCCGAGCGCACAGAGTCCATGGTGCCCGGCTCCAGATCCACGAGCACAGCGCGGGGCACGTACCTGCCACCTGCGTGGGGCGGGAGGGCATGAGCGAGGGGAGGGCCGCGTTCCCAGGAGGGCGGTGGGGGAAGGACGGGGGTCTCACCGCTGGCCTCGTTGTAGTACACGTTGATGCGCTCCAGCTGCAGGTGGCTGTCCCCGTGGTAGGTGCCAGCGGAGTCGATGGCATGTTCATCAGAGATCACCTCCCAGAACTGCAAGAGACGGGAGGAGACAGACAGGCCGGGGCTGAGTCAGGGAGGCGCCCCAGCCGCTCTCCCACCCCCACCCTCATCCGCACCCCCATCCCTAGGCCGCCCTGTCCCTGGGGTCCACCCCGGCCGCCTCGCCAGCCACCCGGTTCCACCGTCCCCGGCAGGGAGCCCAGGGGCCGCAATGCATGGGCACCGCCCCCGCCACTGCCAACACCTTCCCCGGCCACCCGGCAGGCCCGGGCTAGGCCCTCAGAGCCCCGGCTGCCAACCTTGGCGCC
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CGCCTTGCTTGCCAGGCTGGAAGAGGGGCTCCAGAAACTTGGGAAACCTGGGCCTGTAGCTGGCATGTGGAAAAGAGGCCTGGAAAAGCACCATTCCTGTCCATGAAGCCCCCAGATGGAACCAGGTAATTGGGAAATACATGGGCACCAAGCCTGAACCCCCCTCAGACCCAGGTGGGAACTGCAGTGGTGACTTGCCCCCTCTGCCAGTCTGGCTGTACCACTACAGGAGGGAGGAACATCTAGCCCCACACGTGAGTGGAGACACCAGGTGTGGGCAGGTTCCAGTGGTTGCTGCAGCTGAACCTTCCTAACCAGGTCCATGCGAGACCATCTCAGATGGGTGTGCACCTGGGTTGGGCAAGGACACCCCTCAGACAGTGAGAGCCACTGAGGAGGGCTGTCACAGAGGCCCCTTTTCCTGCTCTTAGAACAGGTTGGGCGAGTATGGGGGAGTGTGGGGGAGTATGGGGGAGTATGGGGGACCTCTCCCACCTCCCAGCTGCTTCCAGGAGCCACTTCTTTCGAGATGAGACTCTCCTGCCTGCCTGTTCCCATTTGGCTGCAATAGACCATTGACAACATTCAGAGAACAAGAAGGGGCCTCACCTGTTTTCCCTGACACGTAGGAGGCAGATGGGCATTCCCAGGGGACCTGGGGTAGAGCCTGTTCATCTGCCCACCCCCAAGGCTATGCTGGCTTCATCTTATCTGTGCGATAGGGCTGGGGGTGGGGGTGGGAATTACCAGGAGACCATCACACAGGCCGTGGACAAGTTCTACAAGAGCCAGGGAGAACACTGTCCGTGCATGCGTCCCAGCACCCAGCTCACACATCTCTCATTTGACAGCTTCCCCAAAGCAGGCTTTGCAGTCCAGGCTCCCCAAGAAGCCAGGGGAGGAGACTCTGCCAGGCTGAAGGGTCTGTCCCCAAAGGTGCCACCCTCACCAGGCTCATCCTGACAATCTTGGATTATTTTTGCCCTGAAGTTTTGGAGTGGGGGACAGGGAGAGAGCAGACAGTACACATTAGCCACCTTTCCAGAGAGCATCAGCCCTCCAGACTGGGGCAGGTCAGACCTCCACTCAGGCATTTTTCTCACTGGTTGCCAGTTGGGGGAAGCAGTATTTGTGAGCACCTGCCTGTCTCCCCAGCTCCTGTTCAGAAACCCCATCTGTGCCTTTGGAGGGACTGCCCTGCGCACACAGGCCCAGCAACCACCATCTACGGCCCCCAGGACCTAATCCCCTTCTACTTGGGATTCAGTGCATGTTAGCAGACACTGGGCTTGATTCCTGCCTAGTCCCTGCCAGACATCCCATGCCCACCTCATTAAGAGAATGAGGCCACACAAACACACCCAGGCCATCGTGATGATGGAGTGCCTGGGGTCCCACTTGCCCACCCTTCATTGCTGGTTCAGAGCCAGCTCTGACCACATTCCTACCCTGAGATGGGACTCTGGGGACATTGTCCACCAGGGTCACTGACCCCTTTTAACGTTCCAGAAACATGGCCAGCTGGTCCCCTAGAAGTTTGGTATATGGGATAAGCCAAGGCTTGCCTTCAGCAACAGGTTTTCCACCACGTCACTGCCCAAGGCCCAGGGCATCCCCAAGTTCATGTGAAGCCTGCCTGCCATGTCCACAGCCCATACCGACCCCTCCTGGAGCCACTGGAATGCTTGTTCCTGGGCATGTGATGAACCCAGACAGCTTCCGCCTTGCAGGACAACTATGCGCATCTGGCAGCAGTAGCCAGAGGGCCCATAGAAAGAAGATGGAGGCAAAACCAGATGCTGTGAGAATACTTTATTAGTCAAAACCGCATACTATAAAAATGCTTTAAAACGCAGCAGGAGATGTGAAGACACAAATTAACAAGCGTATAGTGACACATGGCTGTCAGAACACAGTAAAGAATCCACACTGCTTCCCCCCTTTACCTAGAAAAGGAGAGTTCTAGGCCACCTCCTCCTCGGCATACTCCTCATCCTCCTCCTCCTCGGCCGTGGCATCCTGATATTGCTGATATTCAGACACCAGGTTGTTCATGTTGCTCTCGGCCTCGGTGAATTCCATCTCATCCATGCCCTCGCCCGTGTACCAGTGGAGGAAGGCCTTGCGCCTGAACATTGCTGTAAACTGCTCTGAGACACGCTTGAAGAGTTCCTGGATGGCCGTATTATTCCCAATGAAGGTGGCTGACATTTTTAGCCCCCGGGGTGGGATGTCACAGACGGCTGTTTTTACGTTGTTGGGGAGCCAGTCAGCAAAGTAACTGCTGTTCTTATCTTGAATGTTGAACATTTGTTCATCCACCTCCCTCATGGGCATGCGACCCCTGAAAATGGCAGCCGCCGTTAGGTAGCGGCCGTGACGGGGGTCACAGGCAGCCATCATGTTCTTAGCATCAAACATCTGCTGGGTAAGCTCAGCCACAGTCAAGGCCCGGTACTGCTGGCTGCCCCGGCTGGTCAGTGGGGCAAAGCCGGGCATGAAGAAATGCAGCCGGGGAAACGGGACCATGTTCACGGCCAGCTTCCGCAGGTCAGCATTCAGCTGGCCCGGGAAGCGCAGGCACGTGGTGACCCCACTCATGGTAGCAGACACCAGGTGGTTCAGGTCACCATAGGTGGGTGTGGGCAGTTTTAGGGTCTTGGAACATATGTCATACAGAGCTTCGTTATCTATGCAAAAGGTCTCATCTGCGTTTTCTATGAGCTGGTGGACTGAGAGGGTGGCGTTGTAGGGCTCCACCACGGTGTCCGACACCTTGGGCGAGGGCAGGATGCTGAATGTGTTTATGATCCTGTCTGGGTACTCCTCCCGGATCTTACTGAGCAGAAGGGTACCCATCCCAGACCCAGTCCCCCCACCCAGGGAGTGGGTCAGCTGGAAACCCTGCAGGCAGTCACAGCTCTCAGCCTCCTTTCTGACAACGTCCATCACTGACTCCATCAGCTCCGCGCCTTCGGTGTAGTGTCCCTTGGCCCAGTTGTTTCCGGCCCCACACTGACCTGTAAGACAGCACAGCCGGTCACTCGACGGCCAGGTATACGGTCATCAGTGGTCACCACCATAATGCAGAAAGAGCCAAGCGTCACACGTGAGGTGAGAGCACCGTTCGCCCTGCAGGTGGAGCAGATGAAACCCCCTCCCCCAGAGTTACAGGACAGCAGCTTCCCCTGTTAGGAATTAAGACAGGAGTCAAACCTGAGACGGGTTCACAGACCTCGCTGCAGGTGGCTCCTGCCCATTCTCAGGAAAGGCAGTAGCCACGGCCCCAGCTCAGGTTCTTGCAGGGAGTTTACATCAGTAACTCCTCACCTTGAGGAGACACCAGGGCCTTCCTCCCGAAGCCCATTTAGGAGAGGCAGATTGAGCGACTCGACTCGGAGGATAGGAGGGTGTTCAGGGGCCCTAGCTCCACAGTTCCCAGAGGATGACCTTAGCACACTCCTGGATTTTGAGCTGCCCTGGCTAAGGAGCCGCACCCCAGTCCTCGCCCGCAGCTCACCGAAGATGAAGTTGTCTGGCCTGAAGACCTGCCCGAAGGGCCCCGAGCGCACAGAGTCCATGGTGCCCGGCTCCAGATCCACGAGCACAGCGCGGGGCACGTACCTGCCACCTGCGTGGGGCGGGAGGGCATGAGCGAGGGGAGGGCCGCGTTCCCAGGAGGGCGGTGGGGGAAGGACGGGGGTCTCACCGCTGGCCTCGTTGTAGTACACGTTGATGCGCTCCAGCTGCAGGTGGCTGTCCCCGTGGTAGGTGCCAGCGGAGTCGATGGCATGTTCATCAGAGATCACCTCCCAGAACTGCAAGAGACGGGAGGAGACAGACAGGCCGGGGCTGAGTCAGGGAGGCGCCCCAGCCGCTCTCCCACCCCCACCCTCATCCGCACCCCCATCCCTAGGCCGCCCTGTCCCTGGGGTCCACCCCGGCCGCCTCGCCAGCCACCCGGTTCCACCGTCCCCGGCAGGGAGCCCAGGGGCCGCAATGCATGGGCACCGCCCCCGCCACTGCCAACACCTTCCCCGGCCACCCGGCAGGCCCGGGCTAGGCCCTCAGAGCCCCGGCTGCCAACCTTGGCGCC
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Task1_train_13620
|
Chromosome 10 houses a mutation in gene TUBB8 (tubulin beta 8 class VIII). Classify its clinical impact — is it pathogenic or benign, and what disease does it lead to if any?
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Pathogenic; Oocyte maturation defect 2
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CCCTCAGACCCAGGTGGGAACTGCAGTGGTGACTTGCCCCCTCTGCCAGTCTGGCTGTACCACTACAGGAGGGAGGAACATCTAGCCCCACACGTGAGTGGAGACACCAGGTGTGGGCAGGTTCCAGTGGTTGCTGCAGCTGAACCTTCCTAACCAGGTCCATGCGAGACCATCTCAGATGGGTGTGCACCTGGGTTGGGCAAGGACACCCCTCAGACAGTGAGAGCCACTGAGGAGGGCTGTCACAGAGGCCCCTTTTCCTGCTCTTAGAACAGGTTGGGCGAGTATGGGGGAGTGTGGGGGAGTATGGGGGAGTATGGGGGACCTCTCCCACCTCCCAGCTGCTTCCAGGAGCCACTTCTTTCGAGATGAGACTCTCCTGCCTGCCTGTTCCCATTTGGCTGCAATAGACCATTGACAACATTCAGAGAACAAGAAGGGGCCTCACCTGTTTTCCCTGACACGTAGGAGGCAGATGGGCATTCCCAGGGGACCTGGGGTAGAGCCTGTTCATCTGCCCACCCCCAAGGCTATGCTGGCTTCATCTTATCTGTGCGATAGGGCTGGGGGTGGGGGTGGGAATTACCAGGAGACCATCACACAGGCCGTGGACAAGTTCTACAAGAGCCAGGGAGAACACTGTCCGTGCATGCGTCCCAGCACCCAGCTCACACATCTCTCATTTGACAGCTTCCCCAAAGCAGGCTTTGCAGTCCAGGCTCCCCAAGAAGCCAGGGGAGGAGACTCTGCCAGGCTGAAGGGTCTGTCCCCAAAGGTGCCACCCTCACCAGGCTCATCCTGACAATCTTGGATTATTTTTGCCCTGAAGTTTTGGAGTGGGGGACAGGGAGAGAGCAGACAGTACACATTAGCCACCTTTCCAGAGAGCATCAGCCCTCCAGACTGGGGCAGGTCAGACCTCCACTCAGGCATTTTTCTCACTGGTTGCCAGTTGGGGGAAGCAGTATTTGTGAGCACCTGCCTGTCTCCCCAGCTCCTGTTCAGAAACCCCATCTGTGCCTTTGGAGGGACTGCCCTGCGCACACAGGCCCAGCAACCACCATCTACGGCCCCCAGGACCTAATCCCCTTCTACTTGGGATTCAGTGCATGTTAGCAGACACTGGGCTTGATTCCTGCCTAGTCCCTGCCAGACATCCCATGCCCACCTCATTAAGAGAATGAGGCCACACAAACACACCCAGGCCATCGTGATGATGGAGTGCCTGGGGTCCCACTTGCCCACCCTTCATTGCTGGTTCAGAGCCAGCTCTGACCACATTCCTACCCTGAGATGGGACTCTGGGGACATTGTCCACCAGGGTCACTGACCCCTTTTAACGTTCCAGAAACATGGCCAGCTGGTCCCCTAGAAGTTTGGTATATGGGATAAGCCAAGGCTTGCCTTCAGCAACAGGTTTTCCACCACGTCACTGCCCAAGGCCCAGGGCATCCCCAAGTTCATGTGAAGCCTGCCTGCCATGTCCACAGCCCATACCGACCCCTCCTGGAGCCACTGGAATGCTTGTTCCTGGGCATGTGATGAACCCAGACAGCTTCCGCCTTGCAGGACAACTATGCGCATCTGGCAGCAGTAGCCAGAGGGCCCATAGAAAGAAGATGGAGGCAAAACCAGATGCTGTGAGAATACTTTATTAGTCAAAACCGCATACTATAAAAATGCTTTAAAACGCAGCAGGAGATGTGAAGACACAAATTAACAAGCGTATAGTGACACATGGCTGTCAGAACACAGTAAAGAATCCACACTGCTTCCCCCCTTTACCTAGAAAAGGAGAGTTCTAGGCCACCTCCTCCTCGGCATACTCCTCATCCTCCTCCTCCTCGGCCGTGGCATCCTGATATTGCTGATATTCAGACACCAGGTCGTTCATGTTGCTCTCGGCCTCGGTGAATTCCATCTCATCCATGCCCTCGCCCGTGTACCAGTGGAGGAAGGCCTTGCGCCTGAACATTGCTGTAAACTGCTCTGAGACACGCTTGAAGAGTTCCTGGATGGCCGTATTATTCCCAATGAAGGTGGCTGACATTTTTAGCCCCCGGGGTGGGATGTCACAGACGGCTGTTTTTACGTTGTTGGGGAGCCAGTCAGCAAAGTAACTGCTGTTCTTATCTTGAATGTTGAACATTTGTTCATCCACCTCCCTCATGGGCATGCGACCCCTGAAAATGGCAGCCGCCGTTAGGTAGCGGCCGTGACGGGGGTCACAGGCAGCCATCATGTTCTTAGCATCAAACATCTGCTGGGTAAGCTCAGCCACAGTCAAGGCCCGGTACTGCTGGCTGCCCCGGCTGGTCAGTGGGGCAAAGCCGGGCATGAAGAAATGCAGCCGGGGAAACGGGACCATGTTCACGGCCAGCTTCCGCAGGTCAGCATTCAGCTGGCCCGGGAAGCGCAGGCACGTGGTGACCCCACTCATGGTAGCAGACACCAGGTGGTTCAGGTCACCATAGGTGGGTGTGGGCAGTTTTAGGGTCTTGGAACATATGTCATACAGAGCTTCGTTATCTATGCAAAAGGTCTCATCTGCGTTTTCTATGAGCTGGTGGACTGAGAGGGTGGCGTTGTAGGGCTCCACCACGGTGTCCGACACCTTGGGCGAGGGCAGGATGCTGAATGTGTTTATGATCCTGTCTGGGTACTCCTCCCGGATCTTACTGAGCAGAAGGGTACCCATCCCAGACCCAGTCCCCCCACCCAGGGAGTGGGTCAGCTGGAAACCCTGCAGGCAGTCACAGCTCTCAGCCTCCTTTCTGACAACGTCCATCACTGACTCCATCAGCTCCGCGCCTTCGGTGTAGTGTCCCTTGGCCCAGTTGTTTCCGGCCCCACACTGACCTGTAAGACAGCACAGCCGGTCACTCGACGGCCAGGTATACGGTCATCAGTGGTCACCACCATAATGCAGAAAGAGCCAAGCGTCACACGTGAGGTGAGAGCACCGTTCGCCCTGCAGGTGGAGCAGATGAAACCCCCTCCCCCAGAGTTACAGGACAGCAGCTTCCCCTGTTAGGAATTAAGACAGGAGTCAAACCTGAGACGGGTTCACAGACCTCGCTGCAGGTGGCTCCTGCCCATTCTCAGGAAAGGCAGTAGCCACGGCCCCAGCTCAGGTTCTTGCAGGGAGTTTACATCAGTAACTCCTCACCTTGAGGAGACACCAGGGCCTTCCTCCCGAAGCCCATTTAGGAGAGGCAGATTGAGCGACTCGACTCGGAGGATAGGAGGGTGTTCAGGGGCCCTAGCTCCACAGTTCCCAGAGGATGACCTTAGCACACTCCTGGATTTTGAGCTGCCCTGGCTAAGGAGCCGCACCCCAGTCCTCGCCCGCAGCTCACCGAAGATGAAGTTGTCTGGCCTGAAGACCTGCCCGAAGGGCCCCGAGCGCACAGAGTCCATGGTGCCCGGCTCCAGATCCACGAGCACAGCGCGGGGCACGTACCTGCCACCTGCGTGGGGCGGGAGGGCATGAGCGAGGGGAGGGCCGCGTTCCCAGGAGGGCGGTGGGGGAAGGACGGGGGTCTCACCGCTGGCCTCGTTGTAGTACACGTTGATGCGCTCCAGCTGCAGGTGGCTGTCCCCGTGGTAGGTGCCAGCGGAGTCGATGGCATGTTCATCAGAGATCACCTCCCAGAACTGCAAGAGACGGGAGGAGACAGACAGGCCGGGGCTGAGTCAGGGAGGCGCCCCAGCCGCTCTCCCACCCCCACCCTCATCCGCACCCCCATCCCTAGGCCGCCCTGTCCCTGGGGTCCACCCCGGCCGCCTCGCCAGCCACCCGGTTCCACCGTCCCCGGCAGGGAGCCCAGGGGCCGCAATGCATGGGCACCGCCCCCGCCACTGCCAACACCTTCCCCGGCCACCCGGCAGGCCCGGGCTAGGCCCTCAGAGCCCCGGCTGCCAACCTTGGCGCCGATCTGATTCCCGCACTGCCCGATCTGCGTGAGCACGATCTCCCTCATGGCCAAGGCGGGATTAGGACGGCAGGAGAAACGTGAGAAGGAGGAGCAGACGCGCAGCGACCCAGCCCGCCCTCCGCCAACGTTTAAATAGCCCCGCGCCCACCTCCCTCCGC
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CCCTCAGACCCAGGTGGGAACTGCAGTGGTGACTTGCCCCCTCTGCCAGTCTGGCTGTACCACTACAGGAGGGAGGAACATCTAGCCCCACACGTGAGTGGAGACACCAGGTGTGGGCAGGTTCCAGTGGTTGCTGCAGCTGAACCTTCCTAACCAGGTCCATGCGAGACCATCTCAGATGGGTGTGCACCTGGGTTGGGCAAGGACACCCCTCAGACAGTGAGAGCCACTGAGGAGGGCTGTCACAGAGGCCCCTTTTCCTGCTCTTAGAACAGGTTGGGCGAGTATGGGGGAGTGTGGGGGAGTATGGGGGAGTATGGGGGACCTCTCCCACCTCCCAGCTGCTTCCAGGAGCCACTTCTTTCGAGATGAGACTCTCCTGCCTGCCTGTTCCCATTTGGCTGCAATAGACCATTGACAACATTCAGAGAACAAGAAGGGGCCTCACCTGTTTTCCCTGACACGTAGGAGGCAGATGGGCATTCCCAGGGGACCTGGGGTAGAGCCTGTTCATCTGCCCACCCCCAAGGCTATGCTGGCTTCATCTTATCTGTGCGATAGGGCTGGGGGTGGGGGTGGGAATTACCAGGAGACCATCACACAGGCCGTGGACAAGTTCTACAAGAGCCAGGGAGAACACTGTCCGTGCATGCGTCCCAGCACCCAGCTCACACATCTCTCATTTGACAGCTTCCCCAAAGCAGGCTTTGCAGTCCAGGCTCCCCAAGAAGCCAGGGGAGGAGACTCTGCCAGGCTGAAGGGTCTGTCCCCAAAGGTGCCACCCTCACCAGGCTCATCCTGACAATCTTGGATTATTTTTGCCCTGAAGTTTTGGAGTGGGGGACAGGGAGAGAGCAGACAGTACACATTAGCCACCTTTCCAGAGAGCATCAGCCCTCCAGACTGGGGCAGGTCAGACCTCCACTCAGGCATTTTTCTCACTGGTTGCCAGTTGGGGGAAGCAGTATTTGTGAGCACCTGCCTGTCTCCCCAGCTCCTGTTCAGAAACCCCATCTGTGCCTTTGGAGGGACTGCCCTGCGCACACAGGCCCAGCAACCACCATCTACGGCCCCCAGGACCTAATCCCCTTCTACTTGGGATTCAGTGCATGTTAGCAGACACTGGGCTTGATTCCTGCCTAGTCCCTGCCAGACATCCCATGCCCACCTCATTAAGAGAATGAGGCCACACAAACACACCCAGGCCATCGTGATGATGGAGTGCCTGGGGTCCCACTTGCCCACCCTTCATTGCTGGTTCAGAGCCAGCTCTGACCACATTCCTACCCTGAGATGGGACTCTGGGGACATTGTCCACCAGGGTCACTGACCCCTTTTAACGTTCCAGAAACATGGCCAGCTGGTCCCCTAGAAGTTTGGTATATGGGATAAGCCAAGGCTTGCCTTCAGCAACAGGTTTTCCACCACGTCACTGCCCAAGGCCCAGGGCATCCCCAAGTTCATGTGAAGCCTGCCTGCCATGTCCACAGCCCATACCGACCCCTCCTGGAGCCACTGGAATGCTTGTTCCTGGGCATGTGATGAACCCAGACAGCTTCCGCCTTGCAGGACAACTATGCGCATCTGGCAGCAGTAGCCAGAGGGCCCATAGAAAGAAGATGGAGGCAAAACCAGATGCTGTGAGAATACTTTATTAGTCAAAACCGCATACTATAAAAATGCTTTAAAACGCAGCAGGAGATGTGAAGACACAAATTAACAAGCGTATAGTGACACATGGCTGTCAGAACACAGTAAAGAATCCACACTGCTTCCCCCCTTTACCTAGAAAAGGAGAGTTCTAGGCCACCTCCTCCTCGGCATACTCCTCATCCTCCTCCTCCTCGGCCGTGGCATCCTGATATTGCTGATATTCAGACACCAGGTCGTTCATGTTGCTCTCGGCCTCGGTGAATTCCATCTCATCCATGCCCTCGCCCGTGTACCAGTGGAGGAAGGCCTTGCGCCTGAACATTGCTGTAAACTGCTCTGAGACACGCTTGAAGAGTTCCTGGATGGCCGTATTATTCCCAATGAAGGTGGCTGACGTTTTTAGCCCCCGGGGTGGGATGTCACAGACGGCTGTTTTTACGTTGTTGGGGAGCCAGTCAGCAAAGTAACTGCTGTTCTTATCTTGAATGTTGAACATTTGTTCATCCACCTCCCTCATGGGCATGCGACCCCTGAAAATGGCAGCCGCCGTTAGGTAGCGGCCGTGACGGGGGTCACAGGCAGCCATCATGTTCTTAGCATCAAACATCTGCTGGGTAAGCTCAGCCACAGTCAAGGCCCGGTACTGCTGGCTGCCCCGGCTGGTCAGTGGGGCAAAGCCGGGCATGAAGAAATGCAGCCGGGGAAACGGGACCATGTTCACGGCCAGCTTCCGCAGGTCAGCATTCAGCTGGCCCGGGAAGCGCAGGCACGTGGTGACCCCACTCATGGTAGCAGACACCAGGTGGTTCAGGTCACCATAGGTGGGTGTGGGCAGTTTTAGGGTCTTGGAACATATGTCATACAGAGCTTCGTTATCTATGCAAAAGGTCTCATCTGCGTTTTCTATGAGCTGGTGGACTGAGAGGGTGGCGTTGTAGGGCTCCACCACGGTGTCCGACACCTTGGGCGAGGGCAGGATGCTGAATGTGTTTATGATCCTGTCTGGGTACTCCTCCCGGATCTTACTGAGCAGAAGGGTACCCATCCCAGACCCAGTCCCCCCACCCAGGGAGTGGGTCAGCTGGAAACCCTGCAGGCAGTCACAGCTCTCAGCCTCCTTTCTGACAACGTCCATCACTGACTCCATCAGCTCCGCGCCTTCGGTGTAGTGTCCCTTGGCCCAGTTGTTTCCGGCCCCACACTGACCTGTAAGACAGCACAGCCGGTCACTCGACGGCCAGGTATACGGTCATCAGTGGTCACCACCATAATGCAGAAAGAGCCAAGCGTCACACGTGAGGTGAGAGCACCGTTCGCCCTGCAGGTGGAGCAGATGAAACCCCCTCCCCCAGAGTTACAGGACAGCAGCTTCCCCTGTTAGGAATTAAGACAGGAGTCAAACCTGAGACGGGTTCACAGACCTCGCTGCAGGTGGCTCCTGCCCATTCTCAGGAAAGGCAGTAGCCACGGCCCCAGCTCAGGTTCTTGCAGGGAGTTTACATCAGTAACTCCTCACCTTGAGGAGACACCAGGGCCTTCCTCCCGAAGCCCATTTAGGAGAGGCAGATTGAGCGACTCGACTCGGAGGATAGGAGGGTGTTCAGGGGCCCTAGCTCCACAGTTCCCAGAGGATGACCTTAGCACACTCCTGGATTTTGAGCTGCCCTGGCTAAGGAGCCGCACCCCAGTCCTCGCCCGCAGCTCACCGAAGATGAAGTTGTCTGGCCTGAAGACCTGCCCGAAGGGCCCCGAGCGCACAGAGTCCATGGTGCCCGGCTCCAGATCCACGAGCACAGCGCGGGGCACGTACCTGCCACCTGCGTGGGGCGGGAGGGCATGAGCGAGGGGAGGGCCGCGTTCCCAGGAGGGCGGTGGGGGAAGGACGGGGGTCTCACCGCTGGCCTCGTTGTAGTACACGTTGATGCGCTCCAGCTGCAGGTGGCTGTCCCCGTGGTAGGTGCCAGCGGAGTCGATGGCATGTTCATCAGAGATCACCTCCCAGAACTGCAAGAGACGGGAGGAGACAGACAGGCCGGGGCTGAGTCAGGGAGGCGCCCCAGCCGCTCTCCCACCCCCACCCTCATCCGCACCCCCATCCCTAGGCCGCCCTGTCCCTGGGGTCCACCCCGGCCGCCTCGCCAGCCACCCGGTTCCACCGTCCCCGGCAGGGAGCCCAGGGGCCGCAATGCATGGGCACCGCCCCCGCCACTGCCAACACCTTCCCCGGCCACCCGGCAGGCCCGGGCTAGGCCCTCAGAGCCCCGGCTGCCAACCTTGGCGCCGATCTGATTCCCGCACTGCCCGATCTGCGTGAGCACGATCTCCCTCATGGCCAAGGCGGGATTAGGACGGCAGGAGAAACGTGAGAAGGAGGAGCAGACGCGCAGCGACCCAGCCCGCCCTCCGCCAACGTTTAAATAGCCCCGCGCCCACCTCCCTCCGC
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Task1_train_13621
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Located on Chromosome 10, this mutation impacts TUBB8 (tubulin beta 8 class VIII). What is its biological consequence — is it benign or pathogenic, and which disease is associated if any?
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Pathogenic; Oocyte maturation defect 2
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AGACCATCTCAGATGGGTGTGCACCTGGGTTGGGCAAGGACACCCCTCAGACAGTGAGAGCCACTGAGGAGGGCTGTCACAGAGGCCCCTTTTCCTGCTCTTAGAACAGGTTGGGCGAGTATGGGGGAGTGTGGGGGAGTATGGGGGAGTATGGGGGACCTCTCCCACCTCCCAGCTGCTTCCAGGAGCCACTTCTTTCGAGATGAGACTCTCCTGCCTGCCTGTTCCCATTTGGCTGCAATAGACCATTGACAACATTCAGAGAACAAGAAGGGGCCTCACCTGTTTTCCCTGACACGTAGGAGGCAGATGGGCATTCCCAGGGGACCTGGGGTAGAGCCTGTTCATCTGCCCACCCCCAAGGCTATGCTGGCTTCATCTTATCTGTGCGATAGGGCTGGGGGTGGGGGTGGGAATTACCAGGAGACCATCACACAGGCCGTGGACAAGTTCTACAAGAGCCAGGGAGAACACTGTCCGTGCATGCGTCCCAGCACCCAGCTCACACATCTCTCATTTGACAGCTTCCCCAAAGCAGGCTTTGCAGTCCAGGCTCCCCAAGAAGCCAGGGGAGGAGACTCTGCCAGGCTGAAGGGTCTGTCCCCAAAGGTGCCACCCTCACCAGGCTCATCCTGACAATCTTGGATTATTTTTGCCCTGAAGTTTTGGAGTGGGGGACAGGGAGAGAGCAGACAGTACACATTAGCCACCTTTCCAGAGAGCATCAGCCCTCCAGACTGGGGCAGGTCAGACCTCCACTCAGGCATTTTTCTCACTGGTTGCCAGTTGGGGGAAGCAGTATTTGTGAGCACCTGCCTGTCTCCCCAGCTCCTGTTCAGAAACCCCATCTGTGCCTTTGGAGGGACTGCCCTGCGCACACAGGCCCAGCAACCACCATCTACGGCCCCCAGGACCTAATCCCCTTCTACTTGGGATTCAGTGCATGTTAGCAGACACTGGGCTTGATTCCTGCCTAGTCCCTGCCAGACATCCCATGCCCACCTCATTAAGAGAATGAGGCCACACAAACACACCCAGGCCATCGTGATGATGGAGTGCCTGGGGTCCCACTTGCCCACCCTTCATTGCTGGTTCAGAGCCAGCTCTGACCACATTCCTACCCTGAGATGGGACTCTGGGGACATTGTCCACCAGGGTCACTGACCCCTTTTAACGTTCCAGAAACATGGCCAGCTGGTCCCCTAGAAGTTTGGTATATGGGATAAGCCAAGGCTTGCCTTCAGCAACAGGTTTTCCACCACGTCACTGCCCAAGGCCCAGGGCATCCCCAAGTTCATGTGAAGCCTGCCTGCCATGTCCACAGCCCATACCGACCCCTCCTGGAGCCACTGGAATGCTTGTTCCTGGGCATGTGATGAACCCAGACAGCTTCCGCCTTGCAGGACAACTATGCGCATCTGGCAGCAGTAGCCAGAGGGCCCATAGAAAGAAGATGGAGGCAAAACCAGATGCTGTGAGAATACTTTATTAGTCAAAACCGCATACTATAAAAATGCTTTAAAACGCAGCAGGAGATGTGAAGACACAAATTAACAAGCGTATAGTGACACATGGCTGTCAGAACACAGTAAAGAATCCACACTGCTTCCCCCCTTTACCTAGAAAAGGAGAGTTCTAGGCCACCTCCTCCTCGGCATACTCCTCATCCTCCTCCTCCTCGGCCGTGGCATCCTGATATTGCTGATATTCAGACACCAGGTCGTTCATGTTGCTCTCGGCCTCGGTGAATTCCATCTCATCCATGCCCTCGCCCGTGTACCAGTGGAGGAAGGCCTTGCGCCTGAACATTGCTGTAAACTGCTCTGAGACACGCTTGAAGAGTTCCTGGATGGCCGTATTATTCCCAATGAAGGTGGCTGACATTTTTAGCCCCCGGGGTGGGATGTCACAGACGGCTGTTTTTACGTTGTTGGGGAGCCAGTCAGCAAAGTAACTGCTGTTCTTATCTTGAATGTTGAACATTTGTTCATCCACCTCCCTCATGGGCATGCGACCCCTGAAAATGGCAGCCGCCGTTAGGTAGCGGCCGTGACGGGGGTCACAGGCAGCCATCATGTTCTTAGCATCAAACATCTGCTGGGTAAGCTCAGCCACAGTCAAGGCCCGGTACTGCTGGCTGCCCCGGCTGGTCAGTGGGGCAAAGCCGGGCATGAAGAAATGCAGCCGGGGAAACGGGACCATGTTCACGGCCAGCTTCCGCAGGTCAGCATTCAGCTGGCCCGGGAAGCGCAGGCACGTGGTGACCCCACTCATGGTAGCAGACACCAGGTGGTTCAGGTCACCATAGGTGGGTGTGGGCAGTTTTAGGGTCTTGGAACATATGTCATACAGAGCTTCGTTATCTATGCAAAAGGTCTCATCTGCGTTTTCTATGAGCTGGTGGACTGAGAGGGTGGCGTTGTAGGGCTCCACCACGGTGTCCGACACCTTGGGCGAGGGCAGGATGCTGAATGTGTTTATGATCCTGTCTGGGTACTCCTCCCGGATCTTACTGAGCAGAAGGGTACCCATCCCAGACCCAGTCCCCCCACCCAGGGAGTGGGTCAGCTGGAAACCCTGCAGGCAGTCACAGCTCTCAGCCTCCTTTCTGACAACGTCCATCACTGACTCCATCAGCTCCGCGCCTTCGGTGTAGTGTCCCTTGGCCCAGTTGTTTCCGGCCCCACACTGACCTGTAAGACAGCACAGCCGGTCACTCGACGGCCAGGTATACGGTCATCAGTGGTCACCACCATAATGCAGAAAGAGCCAAGCGTCACACGTGAGGTGAGAGCACCGTTCGCCCTGCAGGTGGAGCAGATGAAACCCCCTCCCCCAGAGTTACAGGACAGCAGCTTCCCCTGTTAGGAATTAAGACAGGAGTCAAACCTGAGACGGGTTCACAGACCTCGCTGCAGGTGGCTCCTGCCCATTCTCAGGAAAGGCAGTAGCCACGGCCCCAGCTCAGGTTCTTGCAGGGAGTTTACATCAGTAACTCCTCACCTTGAGGAGACACCAGGGCCTTCCTCCCGAAGCCCATTTAGGAGAGGCAGATTGAGCGACTCGACTCGGAGGATAGGAGGGTGTTCAGGGGCCCTAGCTCCACAGTTCCCAGAGGATGACCTTAGCACACTCCTGGATTTTGAGCTGCCCTGGCTAAGGAGCCGCACCCCAGTCCTCGCCCGCAGCTCACCGAAGATGAAGTTGTCTGGCCTGAAGACCTGCCCGAAGGGCCCCGAGCGCACAGAGTCCATGGTGCCCGGCTCCAGATCCACGAGCACAGCGCGGGGCACGTACCTGCCACCTGCGTGGGGCGGGAGGGCATGAGCGAGGGGAGGGCCGCGTTCCCAGGAGGGCGGTGGGGGAAGGACGGGGGTCTCACCGCTGGCCTCGTTGTAGTACACGTTGATGCGCTCCAGCTGCAGGTGGCTGTCCCCGTGGTAGGTGCCAGCGGAGTCGATGGCATGTTCATCAGAGATCACCTCCCAGAACTGCAAGAGACGGGAGGAGACAGACAGGCCGGGGCTGAGTCAGGGAGGCGCCCCAGCCGCTCTCCCACCCCCACCCTCATCCGCACCCCCATCCCTAGGCCGCCCTGTCCCTGGGGTCCACCCCGGCCGCCTCGCCAGCCACCCGGTTCCACCGTCCCCGGCAGGGAGCCCAGGGGCCGCAATGCATGGGCACCGCCCCCGCCACTGCCAACACCTTCCCCGGCCACCCGGCAGGCCCGGGCTAGGCCCTCAGAGCCCCGGCTGCCAACCTTGGCGCCGATCTGATTCCCGCACTGCCCGATCTGCGTGAGCACGATCTCCCTCATGGCCAAGGCGGGATTAGGACGGCAGGAGAAACGTGAGAAGGAGGAGCAGACGCGCAGCGACCCAGCCCGCCCTCCGCCAACGTTTAAATAGCCCCGCGCCCACCTCCCTCCGCCTCGGATTCGGCTCCCAGAATAAGCAACAGCTTTACTTCCACACAGGTGCACCCACCTGTGGATCCCCTGGCGCTGAACATCTGTTGGAAAGCTCAGGTGTCCTTGCGTGGTCCTTTCCACGTTGGGGAAAGCTGCTCGCTGGAGAACTTCCTCCCGCGTCTTTAG
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AGACCATCTCAGATGGGTGTGCACCTGGGTTGGGCAAGGACACCCCTCAGACAGTGAGAGCCACTGAGGAGGGCTGTCACAGAGGCCCCTTTTCCTGCTCTTAGAACAGGTTGGGCGAGTATGGGGGAGTGTGGGGGAGTATGGGGGAGTATGGGGGACCTCTCCCACCTCCCAGCTGCTTCCAGGAGCCACTTCTTTCGAGATGAGACTCTCCTGCCTGCCTGTTCCCATTTGGCTGCAATAGACCATTGACAACATTCAGAGAACAAGAAGGGGCCTCACCTGTTTTCCCTGACACGTAGGAGGCAGATGGGCATTCCCAGGGGACCTGGGGTAGAGCCTGTTCATCTGCCCACCCCCAAGGCTATGCTGGCTTCATCTTATCTGTGCGATAGGGCTGGGGGTGGGGGTGGGAATTACCAGGAGACCATCACACAGGCCGTGGACAAGTTCTACAAGAGCCAGGGAGAACACTGTCCGTGCATGCGTCCCAGCACCCAGCTCACACATCTCTCATTTGACAGCTTCCCCAAAGCAGGCTTTGCAGTCCAGGCTCCCCAAGAAGCCAGGGGAGGAGACTCTGCCAGGCTGAAGGGTCTGTCCCCAAAGGTGCCACCCTCACCAGGCTCATCCTGACAATCTTGGATTATTTTTGCCCTGAAGTTTTGGAGTGGGGGACAGGGAGAGAGCAGACAGTACACATTAGCCACCTTTCCAGAGAGCATCAGCCCTCCAGACTGGGGCAGGTCAGACCTCCACTCAGGCATTTTTCTCACTGGTTGCCAGTTGGGGGAAGCAGTATTTGTGAGCACCTGCCTGTCTCCCCAGCTCCTGTTCAGAAACCCCATCTGTGCCTTTGGAGGGACTGCCCTGCGCACACAGGCCCAGCAACCACCATCTACGGCCCCCAGGACCTAATCCCCTTCTACTTGGGATTCAGTGCATGTTAGCAGACACTGGGCTTGATTCCTGCCTAGTCCCTGCCAGACATCCCATGCCCACCTCATTAAGAGAATGAGGCCACACAAACACACCCAGGCCATCGTGATGATGGAGTGCCTGGGGTCCCACTTGCCCACCCTTCATTGCTGGTTCAGAGCCAGCTCTGACCACATTCCTACCCTGAGATGGGACTCTGGGGACATTGTCCACCAGGGTCACTGACCCCTTTTAACGTTCCAGAAACATGGCCAGCTGGTCCCCTAGAAGTTTGGTATATGGGATAAGCCAAGGCTTGCCTTCAGCAACAGGTTTTCCACCACGTCACTGCCCAAGGCCCAGGGCATCCCCAAGTTCATGTGAAGCCTGCCTGCCATGTCCACAGCCCATACCGACCCCTCCTGGAGCCACTGGAATGCTTGTTCCTGGGCATGTGATGAACCCAGACAGCTTCCGCCTTGCAGGACAACTATGCGCATCTGGCAGCAGTAGCCAGAGGGCCCATAGAAAGAAGATGGAGGCAAAACCAGATGCTGTGAGAATACTTTATTAGTCAAAACCGCATACTATAAAAATGCTTTAAAACGCAGCAGGAGATGTGAAGACACAAATTAACAAGCGTATAGTGACACATGGCTGTCAGAACACAGTAAAGAATCCACACTGCTTCCCCCCTTTACCTAGAAAAGGAGAGTTCTAGGCCACCTCCTCCTCGGCATACTCCTCATCCTCCTCCTCCTCGGCCGTGGCATCCTGATATTGCTGATATTCAGACACCAGGTCGTTCATGTTGCTCTCGGCCTCGGTGAATTCCATCTCATCCATGCCCTCGCCCGTGTACCAGTGGAGGAAGGCCTTGCGCCTGAACATTGCTGTAAACTGCTCTGAGACACGCTTGAAGAGTTCCTGGATGGCCGTATTATTCCCAATGAAGGTGGCTGACATTTTTAGCCCCCGGGGTGGGATGTCACAGACGGCTGTTTTTACGTTGTTGGGGAGCCAGTCAGCAAAGTAACTGCTGTTCTTATCTTGAATGTTGAACATTTGTTCATCCACCTCCCTCATGGGCATGCGACCCCTGAAAATGGCAGCCGCCGTTAGGTAGCGGCTGTGACGGGGGTCACAGGCAGCCATCATGTTCTTAGCATCAAACATCTGCTGGGTAAGCTCAGCCACAGTCAAGGCCCGGTACTGCTGGCTGCCCCGGCTGGTCAGTGGGGCAAAGCCGGGCATGAAGAAATGCAGCCGGGGAAACGGGACCATGTTCACGGCCAGCTTCCGCAGGTCAGCATTCAGCTGGCCCGGGAAGCGCAGGCACGTGGTGACCCCACTCATGGTAGCAGACACCAGGTGGTTCAGGTCACCATAGGTGGGTGTGGGCAGTTTTAGGGTCTTGGAACATATGTCATACAGAGCTTCGTTATCTATGCAAAAGGTCTCATCTGCGTTTTCTATGAGCTGGTGGACTGAGAGGGTGGCGTTGTAGGGCTCCACCACGGTGTCCGACACCTTGGGCGAGGGCAGGATGCTGAATGTGTTTATGATCCTGTCTGGGTACTCCTCCCGGATCTTACTGAGCAGAAGGGTACCCATCCCAGACCCAGTCCCCCCACCCAGGGAGTGGGTCAGCTGGAAACCCTGCAGGCAGTCACAGCTCTCAGCCTCCTTTCTGACAACGTCCATCACTGACTCCATCAGCTCCGCGCCTTCGGTGTAGTGTCCCTTGGCCCAGTTGTTTCCGGCCCCACACTGACCTGTAAGACAGCACAGCCGGTCACTCGACGGCCAGGTATACGGTCATCAGTGGTCACCACCATAATGCAGAAAGAGCCAAGCGTCACACGTGAGGTGAGAGCACCGTTCGCCCTGCAGGTGGAGCAGATGAAACCCCCTCCCCCAGAGTTACAGGACAGCAGCTTCCCCTGTTAGGAATTAAGACAGGAGTCAAACCTGAGACGGGTTCACAGACCTCGCTGCAGGTGGCTCCTGCCCATTCTCAGGAAAGGCAGTAGCCACGGCCCCAGCTCAGGTTCTTGCAGGGAGTTTACATCAGTAACTCCTCACCTTGAGGAGACACCAGGGCCTTCCTCCCGAAGCCCATTTAGGAGAGGCAGATTGAGCGACTCGACTCGGAGGATAGGAGGGTGTTCAGGGGCCCTAGCTCCACAGTTCCCAGAGGATGACCTTAGCACACTCCTGGATTTTGAGCTGCCCTGGCTAAGGAGCCGCACCCCAGTCCTCGCCCGCAGCTCACCGAAGATGAAGTTGTCTGGCCTGAAGACCTGCCCGAAGGGCCCCGAGCGCACAGAGTCCATGGTGCCCGGCTCCAGATCCACGAGCACAGCGCGGGGCACGTACCTGCCACCTGCGTGGGGCGGGAGGGCATGAGCGAGGGGAGGGCCGCGTTCCCAGGAGGGCGGTGGGGGAAGGACGGGGGTCTCACCGCTGGCCTCGTTGTAGTACACGTTGATGCGCTCCAGCTGCAGGTGGCTGTCCCCGTGGTAGGTGCCAGCGGAGTCGATGGCATGTTCATCAGAGATCACCTCCCAGAACTGCAAGAGACGGGAGGAGACAGACAGGCCGGGGCTGAGTCAGGGAGGCGCCCCAGCCGCTCTCCCACCCCCACCCTCATCCGCACCCCCATCCCTAGGCCGCCCTGTCCCTGGGGTCCACCCCGGCCGCCTCGCCAGCCACCCGGTTCCACCGTCCCCGGCAGGGAGCCCAGGGGCCGCAATGCATGGGCACCGCCCCCGCCACTGCCAACACCTTCCCCGGCCACCCGGCAGGCCCGGGCTAGGCCCTCAGAGCCCCGGCTGCCAACCTTGGCGCCGATCTGATTCCCGCACTGCCCGATCTGCGTGAGCACGATCTCCCTCATGGCCAAGGCGGGATTAGGACGGCAGGAGAAACGTGAGAAGGAGGAGCAGACGCGCAGCGACCCAGCCCGCCCTCCGCCAACGTTTAAATAGCCCCGCGCCCACCTCCCTCCGCCTCGGATTCGGCTCCCAGAATAAGCAACAGCTTTACTTCCACACAGGTGCACCCACCTGTGGATCCCCTGGCGCTGAACATCTGTTGGAAAGCTCAGGTGTCCTTGCGTGGTCCTTTCCACGTTGGGGAAAGCTGCTCGCTGGAGAACTTCCTCCCGCGTCTTTAG
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Task1_train_13622
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Gene TUBB8 (tubulin beta 8 class VIII) on Chromosome 10 is impacted by this variant. Evaluate whether it is clinically benign or pathogenic and name the disorder if relevant.
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Pathogenic; Oocyte maturation defect 2
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ACCTGGGTTGGGCAAGGACACCCCTCAGACAGTGAGAGCCACTGAGGAGGGCTGTCACAGAGGCCCCTTTTCCTGCTCTTAGAACAGGTTGGGCGAGTATGGGGGAGTGTGGGGGAGTATGGGGGAGTATGGGGGACCTCTCCCACCTCCCAGCTGCTTCCAGGAGCCACTTCTTTCGAGATGAGACTCTCCTGCCTGCCTGTTCCCATTTGGCTGCAATAGACCATTGACAACATTCAGAGAACAAGAAGGGGCCTCACCTGTTTTCCCTGACACGTAGGAGGCAGATGGGCATTCCCAGGGGACCTGGGGTAGAGCCTGTTCATCTGCCCACCCCCAAGGCTATGCTGGCTTCATCTTATCTGTGCGATAGGGCTGGGGGTGGGGGTGGGAATTACCAGGAGACCATCACACAGGCCGTGGACAAGTTCTACAAGAGCCAGGGAGAACACTGTCCGTGCATGCGTCCCAGCACCCAGCTCACACATCTCTCATTTGACAGCTTCCCCAAAGCAGGCTTTGCAGTCCAGGCTCCCCAAGAAGCCAGGGGAGGAGACTCTGCCAGGCTGAAGGGTCTGTCCCCAAAGGTGCCACCCTCACCAGGCTCATCCTGACAATCTTGGATTATTTTTGCCCTGAAGTTTTGGAGTGGGGGACAGGGAGAGAGCAGACAGTACACATTAGCCACCTTTCCAGAGAGCATCAGCCCTCCAGACTGGGGCAGGTCAGACCTCCACTCAGGCATTTTTCTCACTGGTTGCCAGTTGGGGGAAGCAGTATTTGTGAGCACCTGCCTGTCTCCCCAGCTCCTGTTCAGAAACCCCATCTGTGCCTTTGGAGGGACTGCCCTGCGCACACAGGCCCAGCAACCACCATCTACGGCCCCCAGGACCTAATCCCCTTCTACTTGGGATTCAGTGCATGTTAGCAGACACTGGGCTTGATTCCTGCCTAGTCCCTGCCAGACATCCCATGCCCACCTCATTAAGAGAATGAGGCCACACAAACACACCCAGGCCATCGTGATGATGGAGTGCCTGGGGTCCCACTTGCCCACCCTTCATTGCTGGTTCAGAGCCAGCTCTGACCACATTCCTACCCTGAGATGGGACTCTGGGGACATTGTCCACCAGGGTCACTGACCCCTTTTAACGTTCCAGAAACATGGCCAGCTGGTCCCCTAGAAGTTTGGTATATGGGATAAGCCAAGGCTTGCCTTCAGCAACAGGTTTTCCACCACGTCACTGCCCAAGGCCCAGGGCATCCCCAAGTTCATGTGAAGCCTGCCTGCCATGTCCACAGCCCATACCGACCCCTCCTGGAGCCACTGGAATGCTTGTTCCTGGGCATGTGATGAACCCAGACAGCTTCCGCCTTGCAGGACAACTATGCGCATCTGGCAGCAGTAGCCAGAGGGCCCATAGAAAGAAGATGGAGGCAAAACCAGATGCTGTGAGAATACTTTATTAGTCAAAACCGCATACTATAAAAATGCTTTAAAACGCAGCAGGAGATGTGAAGACACAAATTAACAAGCGTATAGTGACACATGGCTGTCAGAACACAGTAAAGAATCCACACTGCTTCCCCCCTTTACCTAGAAAAGGAGAGTTCTAGGCCACCTCCTCCTCGGCATACTCCTCATCCTCCTCCTCCTCGGCCGTGGCATCCTGATATTGCTGATATTCAGACACCAGGTCGTTCATGTTGCTCTCGGCCTCGGTGAATTCCATCTCATCCATGCCCTCGCCCGTGTACCAGTGGAGGAAGGCCTTGCGCCTGAACATTGCTGTAAACTGCTCTGAGACACGCTTGAAGAGTTCCTGGATGGCCGTATTATTCCCAATGAAGGTGGCTGACATTTTTAGCCCCCGGGGTGGGATGTCACAGACGGCTGTTTTTACGTTGTTGGGGAGCCAGTCAGCAAAGTAACTGCTGTTCTTATCTTGAATGTTGAACATTTGTTCATCCACCTCCCTCATGGGCATGCGACCCCTGAAAATGGCAGCCGCCGTTAGGTAGCGGCCGTGACGGGGGTCACAGGCAGCCATCATGTTCTTAGCATCAAACATCTGCTGGGTAAGCTCAGCCACAGTCAAGGCCCGGTACTGCTGGCTGCCCCGGCTGGTCAGTGGGGCAAAGCCGGGCATGAAGAAATGCAGCCGGGGAAACGGGACCATGTTCACGGCCAGCTTCCGCAGGTCAGCATTCAGCTGGCCCGGGAAGCGCAGGCACGTGGTGACCCCACTCATGGTAGCAGACACCAGGTGGTTCAGGTCACCATAGGTGGGTGTGGGCAGTTTTAGGGTCTTGGAACATATGTCATACAGAGCTTCGTTATCTATGCAAAAGGTCTCATCTGCGTTTTCTATGAGCTGGTGGACTGAGAGGGTGGCGTTGTAGGGCTCCACCACGGTGTCCGACACCTTGGGCGAGGGCAGGATGCTGAATGTGTTTATGATCCTGTCTGGGTACTCCTCCCGGATCTTACTGAGCAGAAGGGTACCCATCCCAGACCCAGTCCCCCCACCCAGGGAGTGGGTCAGCTGGAAACCCTGCAGGCAGTCACAGCTCTCAGCCTCCTTTCTGACAACGTCCATCACTGACTCCATCAGCTCCGCGCCTTCGGTGTAGTGTCCCTTGGCCCAGTTGTTTCCGGCCCCACACTGACCTGTAAGACAGCACAGCCGGTCACTCGACGGCCAGGTATACGGTCATCAGTGGTCACCACCATAATGCAGAAAGAGCCAAGCGTCACACGTGAGGTGAGAGCACCGTTCGCCCTGCAGGTGGAGCAGATGAAACCCCCTCCCCCAGAGTTACAGGACAGCAGCTTCCCCTGTTAGGAATTAAGACAGGAGTCAAACCTGAGACGGGTTCACAGACCTCGCTGCAGGTGGCTCCTGCCCATTCTCAGGAAAGGCAGTAGCCACGGCCCCAGCTCAGGTTCTTGCAGGGAGTTTACATCAGTAACTCCTCACCTTGAGGAGACACCAGGGCCTTCCTCCCGAAGCCCATTTAGGAGAGGCAGATTGAGCGACTCGACTCGGAGGATAGGAGGGTGTTCAGGGGCCCTAGCTCCACAGTTCCCAGAGGATGACCTTAGCACACTCCTGGATTTTGAGCTGCCCTGGCTAAGGAGCCGCACCCCAGTCCTCGCCCGCAGCTCACCGAAGATGAAGTTGTCTGGCCTGAAGACCTGCCCGAAGGGCCCCGAGCGCACAGAGTCCATGGTGCCCGGCTCCAGATCCACGAGCACAGCGCGGGGCACGTACCTGCCACCTGCGTGGGGCGGGAGGGCATGAGCGAGGGGAGGGCCGCGTTCCCAGGAGGGCGGTGGGGGAAGGACGGGGGTCTCACCGCTGGCCTCGTTGTAGTACACGTTGATGCGCTCCAGCTGCAGGTGGCTGTCCCCGTGGTAGGTGCCAGCGGAGTCGATGGCATGTTCATCAGAGATCACCTCCCAGAACTGCAAGAGACGGGAGGAGACAGACAGGCCGGGGCTGAGTCAGGGAGGCGCCCCAGCCGCTCTCCCACCCCCACCCTCATCCGCACCCCCATCCCTAGGCCGCCCTGTCCCTGGGGTCCACCCCGGCCGCCTCGCCAGCCACCCGGTTCCACCGTCCCCGGCAGGGAGCCCAGGGGCCGCAATGCATGGGCACCGCCCCCGCCACTGCCAACACCTTCCCCGGCCACCCGGCAGGCCCGGGCTAGGCCCTCAGAGCCCCGGCTGCCAACCTTGGCGCCGATCTGATTCCCGCACTGCCCGATCTGCGTGAGCACGATCTCCCTCATGGCCAAGGCGGGATTAGGACGGCAGGAGAAACGTGAGAAGGAGGAGCAGACGCGCAGCGACCCAGCCCGCCCTCCGCCAACGTTTAAATAGCCCCGCGCCCACCTCCCTCCGCCTCGGATTCGGCTCCCAGAATAAGCAACAGCTTTACTTCCACACAGGTGCACCCACCTGTGGATCCCCTGGCGCTGAACATCTGTTGGAAAGCTCAGGTGTCCTTGCGTGGTCCTTTCCACGTTGGGGAAAGCTGCTCGCTGGAGAACTTCCTCCCGCGTCTTTAGTAAGACTAAATCCCTAGCTGAG
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ACCTGGGTTGGGCAAGGACACCCCTCAGACAGTGAGAGCCACTGAGGAGGGCTGTCACAGAGGCCCCTTTTCCTGCTCTTAGAACAGGTTGGGCGAGTATGGGGGAGTGTGGGGGAGTATGGGGGAGTATGGGGGACCTCTCCCACCTCCCAGCTGCTTCCAGGAGCCACTTCTTTCGAGATGAGACTCTCCTGCCTGCCTGTTCCCATTTGGCTGCAATAGACCATTGACAACATTCAGAGAACAAGAAGGGGCCTCACCTGTTTTCCCTGACACGTAGGAGGCAGATGGGCATTCCCAGGGGACCTGGGGTAGAGCCTGTTCATCTGCCCACCCCCAAGGCTATGCTGGCTTCATCTTATCTGTGCGATAGGGCTGGGGGTGGGGGTGGGAATTACCAGGAGACCATCACACAGGCCGTGGACAAGTTCTACAAGAGCCAGGGAGAACACTGTCCGTGCATGCGTCCCAGCACCCAGCTCACACATCTCTCATTTGACAGCTTCCCCAAAGCAGGCTTTGCAGTCCAGGCTCCCCAAGAAGCCAGGGGAGGAGACTCTGCCAGGCTGAAGGGTCTGTCCCCAAAGGTGCCACCCTCACCAGGCTCATCCTGACAATCTTGGATTATTTTTGCCCTGAAGTTTTGGAGTGGGGGACAGGGAGAGAGCAGACAGTACACATTAGCCACCTTTCCAGAGAGCATCAGCCCTCCAGACTGGGGCAGGTCAGACCTCCACTCAGGCATTTTTCTCACTGGTTGCCAGTTGGGGGAAGCAGTATTTGTGAGCACCTGCCTGTCTCCCCAGCTCCTGTTCAGAAACCCCATCTGTGCCTTTGGAGGGACTGCCCTGCGCACACAGGCCCAGCAACCACCATCTACGGCCCCCAGGACCTAATCCCCTTCTACTTGGGATTCAGTGCATGTTAGCAGACACTGGGCTTGATTCCTGCCTAGTCCCTGCCAGACATCCCATGCCCACCTCATTAAGAGAATGAGGCCACACAAACACACCCAGGCCATCGTGATGATGGAGTGCCTGGGGTCCCACTTGCCCACCCTTCATTGCTGGTTCAGAGCCAGCTCTGACCACATTCCTACCCTGAGATGGGACTCTGGGGACATTGTCCACCAGGGTCACTGACCCCTTTTAACGTTCCAGAAACATGGCCAGCTGGTCCCCTAGAAGTTTGGTATATGGGATAAGCCAAGGCTTGCCTTCAGCAACAGGTTTTCCACCACGTCACTGCCCAAGGCCCAGGGCATCCCCAAGTTCATGTGAAGCCTGCCTGCCATGTCCACAGCCCATACCGACCCCTCCTGGAGCCACTGGAATGCTTGTTCCTGGGCATGTGATGAACCCAGACAGCTTCCGCCTTGCAGGACAACTATGCGCATCTGGCAGCAGTAGCCAGAGGGCCCATAGAAAGAAGATGGAGGCAAAACCAGATGCTGTGAGAATACTTTATTAGTCAAAACCGCATACTATAAAAATGCTTTAAAACGCAGCAGGAGATGTGAAGACACAAATTAACAAGCGTATAGTGACACATGGCTGTCAGAACACAGTAAAGAATCCACACTGCTTCCCCCCTTTACCTAGAAAAGGAGAGTTCTAGGCCACCTCCTCCTCGGCATACTCCTCATCCTCCTCCTCCTCGGCCGTGGCATCCTGATATTGCTGATATTCAGACACCAGGTCGTTCATGTTGCTCTCGGCCTCGGTGAATTCCATCTCATCCATGCCCTCGCCCGTGTACCAGTGGAGGAAGGCCTTGCGCCTGAACATTGCTGTAAACTGCTCTGAGACACGCTTGAAGAGTTCCTGGATGGCCGTATTATTCCCAATGAAGGTGGCTGACATTTTTAGCCCCCGGGGTGGGATGTCACAGACGGCTGTTTTTACGTTGTTGGGGAGCCAGTCAGCAAAGTAACTGCTGTTCTTATCTTGAATGTTGAACATTTGTTCATCCACCTCCCTCATGGGCATGCGACCCCTGAAAATGGCAGCCGCCGTTAGGTAGCGGCCGTGACGGGGGTCACAGGCAGCTATCATGTTCTTAGCATCAAACATCTGCTGGGTAAGCTCAGCCACAGTCAAGGCCCGGTACTGCTGGCTGCCCCGGCTGGTCAGTGGGGCAAAGCCGGGCATGAAGAAATGCAGCCGGGGAAACGGGACCATGTTCACGGCCAGCTTCCGCAGGTCAGCATTCAGCTGGCCCGGGAAGCGCAGGCACGTGGTGACCCCACTCATGGTAGCAGACACCAGGTGGTTCAGGTCACCATAGGTGGGTGTGGGCAGTTTTAGGGTCTTGGAACATATGTCATACAGAGCTTCGTTATCTATGCAAAAGGTCTCATCTGCGTTTTCTATGAGCTGGTGGACTGAGAGGGTGGCGTTGTAGGGCTCCACCACGGTGTCCGACACCTTGGGCGAGGGCAGGATGCTGAATGTGTTTATGATCCTGTCTGGGTACTCCTCCCGGATCTTACTGAGCAGAAGGGTACCCATCCCAGACCCAGTCCCCCCACCCAGGGAGTGGGTCAGCTGGAAACCCTGCAGGCAGTCACAGCTCTCAGCCTCCTTTCTGACAACGTCCATCACTGACTCCATCAGCTCCGCGCCTTCGGTGTAGTGTCCCTTGGCCCAGTTGTTTCCGGCCCCACACTGACCTGTAAGACAGCACAGCCGGTCACTCGACGGCCAGGTATACGGTCATCAGTGGTCACCACCATAATGCAGAAAGAGCCAAGCGTCACACGTGAGGTGAGAGCACCGTTCGCCCTGCAGGTGGAGCAGATGAAACCCCCTCCCCCAGAGTTACAGGACAGCAGCTTCCCCTGTTAGGAATTAAGACAGGAGTCAAACCTGAGACGGGTTCACAGACCTCGCTGCAGGTGGCTCCTGCCCATTCTCAGGAAAGGCAGTAGCCACGGCCCCAGCTCAGGTTCTTGCAGGGAGTTTACATCAGTAACTCCTCACCTTGAGGAGACACCAGGGCCTTCCTCCCGAAGCCCATTTAGGAGAGGCAGATTGAGCGACTCGACTCGGAGGATAGGAGGGTGTTCAGGGGCCCTAGCTCCACAGTTCCCAGAGGATGACCTTAGCACACTCCTGGATTTTGAGCTGCCCTGGCTAAGGAGCCGCACCCCAGTCCTCGCCCGCAGCTCACCGAAGATGAAGTTGTCTGGCCTGAAGACCTGCCCGAAGGGCCCCGAGCGCACAGAGTCCATGGTGCCCGGCTCCAGATCCACGAGCACAGCGCGGGGCACGTACCTGCCACCTGCGTGGGGCGGGAGGGCATGAGCGAGGGGAGGGCCGCGTTCCCAGGAGGGCGGTGGGGGAAGGACGGGGGTCTCACCGCTGGCCTCGTTGTAGTACACGTTGATGCGCTCCAGCTGCAGGTGGCTGTCCCCGTGGTAGGTGCCAGCGGAGTCGATGGCATGTTCATCAGAGATCACCTCCCAGAACTGCAAGAGACGGGAGGAGACAGACAGGCCGGGGCTGAGTCAGGGAGGCGCCCCAGCCGCTCTCCCACCCCCACCCTCATCCGCACCCCCATCCCTAGGCCGCCCTGTCCCTGGGGTCCACCCCGGCCGCCTCGCCAGCCACCCGGTTCCACCGTCCCCGGCAGGGAGCCCAGGGGCCGCAATGCATGGGCACCGCCCCCGCCACTGCCAACACCTTCCCCGGCCACCCGGCAGGCCCGGGCTAGGCCCTCAGAGCCCCGGCTGCCAACCTTGGCGCCGATCTGATTCCCGCACTGCCCGATCTGCGTGAGCACGATCTCCCTCATGGCCAAGGCGGGATTAGGACGGCAGGAGAAACGTGAGAAGGAGGAGCAGACGCGCAGCGACCCAGCCCGCCCTCCGCCAACGTTTAAATAGCCCCGCGCCCACCTCCCTCCGCCTCGGATTCGGCTCCCAGAATAAGCAACAGCTTTACTTCCACACAGGTGCACCCACCTGTGGATCCCCTGGCGCTGAACATCTGTTGGAAAGCTCAGGTGTCCTTGCGTGGTCCTTTCCACGTTGGGGAAAGCTGCTCGCTGGAGAACTTCCTCCCGCGTCTTTAGTAAGACTAAATCCCTAGCTGAG
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Task1_train_13623
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This variant affects gene TUBB8 (tubulin beta 8 class VIII) located on Chromosome 10. Evaluate its biological effect and specify any disease association.
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Pathogenic; Oocyte maturation defect 2
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AGTATGGGGGAGTATGGGGGACCTCTCCCACCTCCCAGCTGCTTCCAGGAGCCACTTCTTTCGAGATGAGACTCTCCTGCCTGCCTGTTCCCATTTGGCTGCAATAGACCATTGACAACATTCAGAGAACAAGAAGGGGCCTCACCTGTTTTCCCTGACACGTAGGAGGCAGATGGGCATTCCCAGGGGACCTGGGGTAGAGCCTGTTCATCTGCCCACCCCCAAGGCTATGCTGGCTTCATCTTATCTGTGCGATAGGGCTGGGGGTGGGGGTGGGAATTACCAGGAGACCATCACACAGGCCGTGGACAAGTTCTACAAGAGCCAGGGAGAACACTGTCCGTGCATGCGTCCCAGCACCCAGCTCACACATCTCTCATTTGACAGCTTCCCCAAAGCAGGCTTTGCAGTCCAGGCTCCCCAAGAAGCCAGGGGAGGAGACTCTGCCAGGCTGAAGGGTCTGTCCCCAAAGGTGCCACCCTCACCAGGCTCATCCTGACAATCTTGGATTATTTTTGCCCTGAAGTTTTGGAGTGGGGGACAGGGAGAGAGCAGACAGTACACATTAGCCACCTTTCCAGAGAGCATCAGCCCTCCAGACTGGGGCAGGTCAGACCTCCACTCAGGCATTTTTCTCACTGGTTGCCAGTTGGGGGAAGCAGTATTTGTGAGCACCTGCCTGTCTCCCCAGCTCCTGTTCAGAAACCCCATCTGTGCCTTTGGAGGGACTGCCCTGCGCACACAGGCCCAGCAACCACCATCTACGGCCCCCAGGACCTAATCCCCTTCTACTTGGGATTCAGTGCATGTTAGCAGACACTGGGCTTGATTCCTGCCTAGTCCCTGCCAGACATCCCATGCCCACCTCATTAAGAGAATGAGGCCACACAAACACACCCAGGCCATCGTGATGATGGAGTGCCTGGGGTCCCACTTGCCCACCCTTCATTGCTGGTTCAGAGCCAGCTCTGACCACATTCCTACCCTGAGATGGGACTCTGGGGACATTGTCCACCAGGGTCACTGACCCCTTTTAACGTTCCAGAAACATGGCCAGCTGGTCCCCTAGAAGTTTGGTATATGGGATAAGCCAAGGCTTGCCTTCAGCAACAGGTTTTCCACCACGTCACTGCCCAAGGCCCAGGGCATCCCCAAGTTCATGTGAAGCCTGCCTGCCATGTCCACAGCCCATACCGACCCCTCCTGGAGCCACTGGAATGCTTGTTCCTGGGCATGTGATGAACCCAGACAGCTTCCGCCTTGCAGGACAACTATGCGCATCTGGCAGCAGTAGCCAGAGGGCCCATAGAAAGAAGATGGAGGCAAAACCAGATGCTGTGAGAATACTTTATTAGTCAAAACCGCATACTATAAAAATGCTTTAAAACGCAGCAGGAGATGTGAAGACACAAATTAACAAGCGTATAGTGACACATGGCTGTCAGAACACAGTAAAGAATCCACACTGCTTCCCCCCTTTACCTAGAAAAGGAGAGTTCTAGGCCACCTCCTCCTCGGCATACTCCTCATCCTCCTCCTCCTCGGCCGTGGCATCCTGATATTGCTGATATTCAGACACCAGGTCGTTCATGTTGCTCTCGGCCTCGGTGAATTCCATCTCATCCATGCCCTCGCCCGTGTACCAGTGGAGGAAGGCCTTGCGCCTGAACATTGCTGTAAACTGCTCTGAGACACGCTTGAAGAGTTCCTGGATGGCCGTATTATTCCCAATGAAGGTGGCTGACATTTTTAGCCCCCGGGGTGGGATGTCACAGACGGCTGTTTTTACGTTGTTGGGGAGCCAGTCAGCAAAGTAACTGCTGTTCTTATCTTGAATGTTGAACATTTGTTCATCCACCTCCCTCATGGGCATGCGACCCCTGAAAATGGCAGCCGCCGTTAGGTAGCGGCCGTGACGGGGGTCACAGGCAGCCATCATGTTCTTAGCATCAAACATCTGCTGGGTAAGCTCAGCCACAGTCAAGGCCCGGTACTGCTGGCTGCCCCGGCTGGTCAGTGGGGCAAAGCCGGGCATGAAGAAATGCAGCCGGGGAAACGGGACCATGTTCACGGCCAGCTTCCGCAGGTCAGCATTCAGCTGGCCCGGGAAGCGCAGGCACGTGGTGACCCCACTCATGGTAGCAGACACCAGGTGGTTCAGGTCACCATAGGTGGGTGTGGGCAGTTTTAGGGTCTTGGAACATATGTCATACAGAGCTTCGTTATCTATGCAAAAGGTCTCATCTGCGTTTTCTATGAGCTGGTGGACTGAGAGGGTGGCGTTGTAGGGCTCCACCACGGTGTCCGACACCTTGGGCGAGGGCAGGATGCTGAATGTGTTTATGATCCTGTCTGGGTACTCCTCCCGGATCTTACTGAGCAGAAGGGTACCCATCCCAGACCCAGTCCCCCCACCCAGGGAGTGGGTCAGCTGGAAACCCTGCAGGCAGTCACAGCTCTCAGCCTCCTTTCTGACAACGTCCATCACTGACTCCATCAGCTCCGCGCCTTCGGTGTAGTGTCCCTTGGCCCAGTTGTTTCCGGCCCCACACTGACCTGTAAGACAGCACAGCCGGTCACTCGACGGCCAGGTATACGGTCATCAGTGGTCACCACCATAATGCAGAAAGAGCCAAGCGTCACACGTGAGGTGAGAGCACCGTTCGCCCTGCAGGTGGAGCAGATGAAACCCCCTCCCCCAGAGTTACAGGACAGCAGCTTCCCCTGTTAGGAATTAAGACAGGAGTCAAACCTGAGACGGGTTCACAGACCTCGCTGCAGGTGGCTCCTGCCCATTCTCAGGAAAGGCAGTAGCCACGGCCCCAGCTCAGGTTCTTGCAGGGAGTTTACATCAGTAACTCCTCACCTTGAGGAGACACCAGGGCCTTCCTCCCGAAGCCCATTTAGGAGAGGCAGATTGAGCGACTCGACTCGGAGGATAGGAGGGTGTTCAGGGGCCCTAGCTCCACAGTTCCCAGAGGATGACCTTAGCACACTCCTGGATTTTGAGCTGCCCTGGCTAAGGAGCCGCACCCCAGTCCTCGCCCGCAGCTCACCGAAGATGAAGTTGTCTGGCCTGAAGACCTGCCCGAAGGGCCCCGAGCGCACAGAGTCCATGGTGCCCGGCTCCAGATCCACGAGCACAGCGCGGGGCACGTACCTGCCACCTGCGTGGGGCGGGAGGGCATGAGCGAGGGGAGGGCCGCGTTCCCAGGAGGGCGGTGGGGGAAGGACGGGGGTCTCACCGCTGGCCTCGTTGTAGTACACGTTGATGCGCTCCAGCTGCAGGTGGCTGTCCCCGTGGTAGGTGCCAGCGGAGTCGATGGCATGTTCATCAGAGATCACCTCCCAGAACTGCAAGAGACGGGAGGAGACAGACAGGCCGGGGCTGAGTCAGGGAGGCGCCCCAGCCGCTCTCCCACCCCCACCCTCATCCGCACCCCCATCCCTAGGCCGCCCTGTCCCTGGGGTCCACCCCGGCCGCCTCGCCAGCCACCCGGTTCCACCGTCCCCGGCAGGGAGCCCAGGGGCCGCAATGCATGGGCACCGCCCCCGCCACTGCCAACACCTTCCCCGGCCACCCGGCAGGCCCGGGCTAGGCCCTCAGAGCCCCGGCTGCCAACCTTGGCGCCGATCTGATTCCCGCACTGCCCGATCTGCGTGAGCACGATCTCCCTCATGGCCAAGGCGGGATTAGGACGGCAGGAGAAACGTGAGAAGGAGGAGCAGACGCGCAGCGACCCAGCCCGCCCTCCGCCAACGTTTAAATAGCCCCGCGCCCACCTCCCTCCGCCTCGGATTCGGCTCCCAGAATAAGCAACAGCTTTACTTCCACACAGGTGCACCCACCTGTGGATCCCCTGGCGCTGAACATCTGTTGGAAAGCTCAGGTGTCCTTGCGTGGTCCTTTCCACGTTGGGGAAAGCTGCTCGCTGGAGAACTTCCTCCCGCGTCTTTAGTAAGACTAAATCCCTAGCTGAGCTGAAACTGAATTTTCCTCCCATGTGGGAGGGGAAGACTCTTGTTTCCATATGCACGGAGTGCCTTTGCACCTGTCCTAGATTGATGACATATTTTTGTAATTGATGAGTCTTTT
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AGTATGGGGGAGTATGGGGGACCTCTCCCACCTCCCAGCTGCTTCCAGGAGCCACTTCTTTCGAGATGAGACTCTCCTGCCTGCCTGTTCCCATTTGGCTGCAATAGACCATTGACAACATTCAGAGAACAAGAAGGGGCCTCACCTGTTTTCCCTGACACGTAGGAGGCAGATGGGCATTCCCAGGGGACCTGGGGTAGAGCCTGTTCATCTGCCCACCCCCAAGGCTATGCTGGCTTCATCTTATCTGTGCGATAGGGCTGGGGGTGGGGGTGGGAATTACCAGGAGACCATCACACAGGCCGTGGACAAGTTCTACAAGAGCCAGGGAGAACACTGTCCGTGCATGCGTCCCAGCACCCAGCTCACACATCTCTCATTTGACAGCTTCCCCAAAGCAGGCTTTGCAGTCCAGGCTCCCCAAGAAGCCAGGGGAGGAGACTCTGCCAGGCTGAAGGGTCTGTCCCCAAAGGTGCCACCCTCACCAGGCTCATCCTGACAATCTTGGATTATTTTTGCCCTGAAGTTTTGGAGTGGGGGACAGGGAGAGAGCAGACAGTACACATTAGCCACCTTTCCAGAGAGCATCAGCCCTCCAGACTGGGGCAGGTCAGACCTCCACTCAGGCATTTTTCTCACTGGTTGCCAGTTGGGGGAAGCAGTATTTGTGAGCACCTGCCTGTCTCCCCAGCTCCTGTTCAGAAACCCCATCTGTGCCTTTGGAGGGACTGCCCTGCGCACACAGGCCCAGCAACCACCATCTACGGCCCCCAGGACCTAATCCCCTTCTACTTGGGATTCAGTGCATGTTAGCAGACACTGGGCTTGATTCCTGCCTAGTCCCTGCCAGACATCCCATGCCCACCTCATTAAGAGAATGAGGCCACACAAACACACCCAGGCCATCGTGATGATGGAGTGCCTGGGGTCCCACTTGCCCACCCTTCATTGCTGGTTCAGAGCCAGCTCTGACCACATTCCTACCCTGAGATGGGACTCTGGGGACATTGTCCACCAGGGTCACTGACCCCTTTTAACGTTCCAGAAACATGGCCAGCTGGTCCCCTAGAAGTTTGGTATATGGGATAAGCCAAGGCTTGCCTTCAGCAACAGGTTTTCCACCACGTCACTGCCCAAGGCCCAGGGCATCCCCAAGTTCATGTGAAGCCTGCCTGCCATGTCCACAGCCCATACCGACCCCTCCTGGAGCCACTGGAATGCTTGTTCCTGGGCATGTGATGAACCCAGACAGCTTCCGCCTTGCAGGACAACTATGCGCATCTGGCAGCAGTAGCCAGAGGGCCCATAGAAAGAAGATGGAGGCAAAACCAGATGCTGTGAGAATACTTTATTAGTCAAAACCGCATACTATAAAAATGCTTTAAAACGCAGCAGGAGATGTGAAGACACAAATTAACAAGCGTATAGTGACACATGGCTGTCAGAACACAGTAAAGAATCCACACTGCTTCCCCCCTTTACCTAGAAAAGGAGAGTTCTAGGCCACCTCCTCCTCGGCATACTCCTCATCCTCCTCCTCCTCGGCCGTGGCATCCTGATATTGCTGATATTCAGACACCAGGTCGTTCATGTTGCTCTCGGCCTCGGTGAATTCCATCTCATCCATGCCCTCGCCCGTGTACCAGTGGAGGAAGGCCTTGCGCCTGAACATTGCTGTAAACTGCTCTGAGACACGCTTGAAGAGTTCCTGGATGGCCGTATTATTCCCAATGAAGGTGGCTGACATTTTTAGCCCCCGGGGTGGGATGTCACAGACGGCTGTTTTTACGTTGTTGGGGAGCCAGTCAGCAAAGTAACTGCTGTTCTTATCTTGAATGTTGAACATTTGTTCATCCACCTCCCTCATGGGCATGCGACCCCTGAAAATGGCAGCCGCCGTTAGGTAGCGGCCGTGACGGGGGTCACAGGCAGCCATCATGTTCTTAGCATCAAACATCTGCTGGGTAAGCTCAGCCACAGTCAAGGCCCGGTACTGCTGGCTGCCCCGGCTGGTCAGTGGGGCAAAGCCGGGCATGAAGAAATGCAGCTGGGGAAACGGGACCATGTTCACGGCCAGCTTCCGCAGGTCAGCATTCAGCTGGCCCGGGAAGCGCAGGCACGTGGTGACCCCACTCATGGTAGCAGACACCAGGTGGTTCAGGTCACCATAGGTGGGTGTGGGCAGTTTTAGGGTCTTGGAACATATGTCATACAGAGCTTCGTTATCTATGCAAAAGGTCTCATCTGCGTTTTCTATGAGCTGGTGGACTGAGAGGGTGGCGTTGTAGGGCTCCACCACGGTGTCCGACACCTTGGGCGAGGGCAGGATGCTGAATGTGTTTATGATCCTGTCTGGGTACTCCTCCCGGATCTTACTGAGCAGAAGGGTACCCATCCCAGACCCAGTCCCCCCACCCAGGGAGTGGGTCAGCTGGAAACCCTGCAGGCAGTCACAGCTCTCAGCCTCCTTTCTGACAACGTCCATCACTGACTCCATCAGCTCCGCGCCTTCGGTGTAGTGTCCCTTGGCCCAGTTGTTTCCGGCCCCACACTGACCTGTAAGACAGCACAGCCGGTCACTCGACGGCCAGGTATACGGTCATCAGTGGTCACCACCATAATGCAGAAAGAGCCAAGCGTCACACGTGAGGTGAGAGCACCGTTCGCCCTGCAGGTGGAGCAGATGAAACCCCCTCCCCCAGAGTTACAGGACAGCAGCTTCCCCTGTTAGGAATTAAGACAGGAGTCAAACCTGAGACGGGTTCACAGACCTCGCTGCAGGTGGCTCCTGCCCATTCTCAGGAAAGGCAGTAGCCACGGCCCCAGCTCAGGTTCTTGCAGGGAGTTTACATCAGTAACTCCTCACCTTGAGGAGACACCAGGGCCTTCCTCCCGAAGCCCATTTAGGAGAGGCAGATTGAGCGACTCGACTCGGAGGATAGGAGGGTGTTCAGGGGCCCTAGCTCCACAGTTCCCAGAGGATGACCTTAGCACACTCCTGGATTTTGAGCTGCCCTGGCTAAGGAGCCGCACCCCAGTCCTCGCCCGCAGCTCACCGAAGATGAAGTTGTCTGGCCTGAAGACCTGCCCGAAGGGCCCCGAGCGCACAGAGTCCATGGTGCCCGGCTCCAGATCCACGAGCACAGCGCGGGGCACGTACCTGCCACCTGCGTGGGGCGGGAGGGCATGAGCGAGGGGAGGGCCGCGTTCCCAGGAGGGCGGTGGGGGAAGGACGGGGGTCTCACCGCTGGCCTCGTTGTAGTACACGTTGATGCGCTCCAGCTGCAGGTGGCTGTCCCCGTGGTAGGTGCCAGCGGAGTCGATGGCATGTTCATCAGAGATCACCTCCCAGAACTGCAAGAGACGGGAGGAGACAGACAGGCCGGGGCTGAGTCAGGGAGGCGCCCCAGCCGCTCTCCCACCCCCACCCTCATCCGCACCCCCATCCCTAGGCCGCCCTGTCCCTGGGGTCCACCCCGGCCGCCTCGCCAGCCACCCGGTTCCACCGTCCCCGGCAGGGAGCCCAGGGGCCGCAATGCATGGGCACCGCCCCCGCCACTGCCAACACCTTCCCCGGCCACCCGGCAGGCCCGGGCTAGGCCCTCAGAGCCCCGGCTGCCAACCTTGGCGCCGATCTGATTCCCGCACTGCCCGATCTGCGTGAGCACGATCTCCCTCATGGCCAAGGCGGGATTAGGACGGCAGGAGAAACGTGAGAAGGAGGAGCAGACGCGCAGCGACCCAGCCCGCCCTCCGCCAACGTTTAAATAGCCCCGCGCCCACCTCCCTCCGCCTCGGATTCGGCTCCCAGAATAAGCAACAGCTTTACTTCCACACAGGTGCACCCACCTGTGGATCCCCTGGCGCTGAACATCTGTTGGAAAGCTCAGGTGTCCTTGCGTGGTCCTTTCCACGTTGGGGAAAGCTGCTCGCTGGAGAACTTCCTCCCGCGTCTTTAGTAAGACTAAATCCCTAGCTGAGCTGAAACTGAATTTTCCTCCCATGTGGGAGGGGAAGACTCTTGTTTCCATATGCACGGAGTGCCTTTGCACCTGTCCTAGATTGATGACATATTTTTGTAATTGATGAGTCTTTT
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Task1_train_13624
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A variant on Chromosome 10 in gene TUBB8 (tubulin beta 8 class VIII) has been observed. Is this a neutral mutation, or does it result in a disease? If so, which one?
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Pathogenic; Oocyte maturation defect 2
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AGATGAGACTCTCCTGCCTGCCTGTTCCCATTTGGCTGCAATAGACCATTGACAACATTCAGAGAACAAGAAGGGGCCTCACCTGTTTTCCCTGACACGTAGGAGGCAGATGGGCATTCCCAGGGGACCTGGGGTAGAGCCTGTTCATCTGCCCACCCCCAAGGCTATGCTGGCTTCATCTTATCTGTGCGATAGGGCTGGGGGTGGGGGTGGGAATTACCAGGAGACCATCACACAGGCCGTGGACAAGTTCTACAAGAGCCAGGGAGAACACTGTCCGTGCATGCGTCCCAGCACCCAGCTCACACATCTCTCATTTGACAGCTTCCCCAAAGCAGGCTTTGCAGTCCAGGCTCCCCAAGAAGCCAGGGGAGGAGACTCTGCCAGGCTGAAGGGTCTGTCCCCAAAGGTGCCACCCTCACCAGGCTCATCCTGACAATCTTGGATTATTTTTGCCCTGAAGTTTTGGAGTGGGGGACAGGGAGAGAGCAGACAGTACACATTAGCCACCTTTCCAGAGAGCATCAGCCCTCCAGACTGGGGCAGGTCAGACCTCCACTCAGGCATTTTTCTCACTGGTTGCCAGTTGGGGGAAGCAGTATTTGTGAGCACCTGCCTGTCTCCCCAGCTCCTGTTCAGAAACCCCATCTGTGCCTTTGGAGGGACTGCCCTGCGCACACAGGCCCAGCAACCACCATCTACGGCCCCCAGGACCTAATCCCCTTCTACTTGGGATTCAGTGCATGTTAGCAGACACTGGGCTTGATTCCTGCCTAGTCCCTGCCAGACATCCCATGCCCACCTCATTAAGAGAATGAGGCCACACAAACACACCCAGGCCATCGTGATGATGGAGTGCCTGGGGTCCCACTTGCCCACCCTTCATTGCTGGTTCAGAGCCAGCTCTGACCACATTCCTACCCTGAGATGGGACTCTGGGGACATTGTCCACCAGGGTCACTGACCCCTTTTAACGTTCCAGAAACATGGCCAGCTGGTCCCCTAGAAGTTTGGTATATGGGATAAGCCAAGGCTTGCCTTCAGCAACAGGTTTTCCACCACGTCACTGCCCAAGGCCCAGGGCATCCCCAAGTTCATGTGAAGCCTGCCTGCCATGTCCACAGCCCATACCGACCCCTCCTGGAGCCACTGGAATGCTTGTTCCTGGGCATGTGATGAACCCAGACAGCTTCCGCCTTGCAGGACAACTATGCGCATCTGGCAGCAGTAGCCAGAGGGCCCATAGAAAGAAGATGGAGGCAAAACCAGATGCTGTGAGAATACTTTATTAGTCAAAACCGCATACTATAAAAATGCTTTAAAACGCAGCAGGAGATGTGAAGACACAAATTAACAAGCGTATAGTGACACATGGCTGTCAGAACACAGTAAAGAATCCACACTGCTTCCCCCCTTTACCTAGAAAAGGAGAGTTCTAGGCCACCTCCTCCTCGGCATACTCCTCATCCTCCTCCTCCTCGGCCGTGGCATCCTGATATTGCTGATATTCAGACACCAGGTCGTTCATGTTGCTCTCGGCCTCGGTGAATTCCATCTCATCCATGCCCTCGCCCGTGTACCAGTGGAGGAAGGCCTTGCGCCTGAACATTGCTGTAAACTGCTCTGAGACACGCTTGAAGAGTTCCTGGATGGCCGTATTATTCCCAATGAAGGTGGCTGACATTTTTAGCCCCCGGGGTGGGATGTCACAGACGGCTGTTTTTACGTTGTTGGGGAGCCAGTCAGCAAAGTAACTGCTGTTCTTATCTTGAATGTTGAACATTTGTTCATCCACCTCCCTCATGGGCATGCGACCCCTGAAAATGGCAGCCGCCGTTAGGTAGCGGCCGTGACGGGGGTCACAGGCAGCCATCATGTTCTTAGCATCAAACATCTGCTGGGTAAGCTCAGCCACAGTCAAGGCCCGGTACTGCTGGCTGCCCCGGCTGGTCAGTGGGGCAAAGCCGGGCATGAAGAAATGCAGCCGGGGAAACGGGACCATGTTCACGGCCAGCTTCCGCAGGTCAGCATTCAGCTGGCCCGGGAAGCGCAGGCACGTGGTGACCCCACTCATGGTAGCAGACACCAGGTGGTTCAGGTCACCATAGGTGGGTGTGGGCAGTTTTAGGGTCTTGGAACATATGTCATACAGAGCTTCGTTATCTATGCAAAAGGTCTCATCTGCGTTTTCTATGAGCTGGTGGACTGAGAGGGTGGCGTTGTAGGGCTCCACCACGGTGTCCGACACCTTGGGCGAGGGCAGGATGCTGAATGTGTTTATGATCCTGTCTGGGTACTCCTCCCGGATCTTACTGAGCAGAAGGGTACCCATCCCAGACCCAGTCCCCCCACCCAGGGAGTGGGTCAGCTGGAAACCCTGCAGGCAGTCACAGCTCTCAGCCTCCTTTCTGACAACGTCCATCACTGACTCCATCAGCTCCGCGCCTTCGGTGTAGTGTCCCTTGGCCCAGTTGTTTCCGGCCCCACACTGACCTGTAAGACAGCACAGCCGGTCACTCGACGGCCAGGTATACGGTCATCAGTGGTCACCACCATAATGCAGAAAGAGCCAAGCGTCACACGTGAGGTGAGAGCACCGTTCGCCCTGCAGGTGGAGCAGATGAAACCCCCTCCCCCAGAGTTACAGGACAGCAGCTTCCCCTGTTAGGAATTAAGACAGGAGTCAAACCTGAGACGGGTTCACAGACCTCGCTGCAGGTGGCTCCTGCCCATTCTCAGGAAAGGCAGTAGCCACGGCCCCAGCTCAGGTTCTTGCAGGGAGTTTACATCAGTAACTCCTCACCTTGAGGAGACACCAGGGCCTTCCTCCCGAAGCCCATTTAGGAGAGGCAGATTGAGCGACTCGACTCGGAGGATAGGAGGGTGTTCAGGGGCCCTAGCTCCACAGTTCCCAGAGGATGACCTTAGCACACTCCTGGATTTTGAGCTGCCCTGGCTAAGGAGCCGCACCCCAGTCCTCGCCCGCAGCTCACCGAAGATGAAGTTGTCTGGCCTGAAGACCTGCCCGAAGGGCCCCGAGCGCACAGAGTCCATGGTGCCCGGCTCCAGATCCACGAGCACAGCGCGGGGCACGTACCTGCCACCTGCGTGGGGCGGGAGGGCATGAGCGAGGGGAGGGCCGCGTTCCCAGGAGGGCGGTGGGGGAAGGACGGGGGTCTCACCGCTGGCCTCGTTGTAGTACACGTTGATGCGCTCCAGCTGCAGGTGGCTGTCCCCGTGGTAGGTGCCAGCGGAGTCGATGGCATGTTCATCAGAGATCACCTCCCAGAACTGCAAGAGACGGGAGGAGACAGACAGGCCGGGGCTGAGTCAGGGAGGCGCCCCAGCCGCTCTCCCACCCCCACCCTCATCCGCACCCCCATCCCTAGGCCGCCCTGTCCCTGGGGTCCACCCCGGCCGCCTCGCCAGCCACCCGGTTCCACCGTCCCCGGCAGGGAGCCCAGGGGCCGCAATGCATGGGCACCGCCCCCGCCACTGCCAACACCTTCCCCGGCCACCCGGCAGGCCCGGGCTAGGCCCTCAGAGCCCCGGCTGCCAACCTTGGCGCCGATCTGATTCCCGCACTGCCCGATCTGCGTGAGCACGATCTCCCTCATGGCCAAGGCGGGATTAGGACGGCAGGAGAAACGTGAGAAGGAGGAGCAGACGCGCAGCGACCCAGCCCGCCCTCCGCCAACGTTTAAATAGCCCCGCGCCCACCTCCCTCCGCCTCGGATTCGGCTCCCAGAATAAGCAACAGCTTTACTTCCACACAGGTGCACCCACCTGTGGATCCCCTGGCGCTGAACATCTGTTGGAAAGCTCAGGTGTCCTTGCGTGGTCCTTTCCACGTTGGGGAAAGCTGCTCGCTGGAGAACTTCCTCCCGCGTCTTTAGTAAGACTAAATCCCTAGCTGAGCTGAAACTGAATTTTCCTCCCATGTGGGAGGGGAAGACTCTTGTTTCCATATGCACGGAGTGCCTTTGCACCTGTCCTAGATTGATGACATATTTTTGTAATTGATGAGTCTTTTCATCTATTAGGAGATCTGTGGTTAGGAAAGGCCTTCCACATGTGAACTCAACAGGACTCAATT
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AGATGAGACTCTCCTGCCTGCCTGTTCCCATTTGGCTGCAATAGACCATTGACAACATTCAGAGAACAAGAAGGGGCCTCACCTGTTTTCCCTGACACGTAGGAGGCAGATGGGCATTCCCAGGGGACCTGGGGTAGAGCCTGTTCATCTGCCCACCCCCAAGGCTATGCTGGCTTCATCTTATCTGTGCGATAGGGCTGGGGGTGGGGGTGGGAATTACCAGGAGACCATCACACAGGCCGTGGACAAGTTCTACAAGAGCCAGGGAGAACACTGTCCGTGCATGCGTCCCAGCACCCAGCTCACACATCTCTCATTTGACAGCTTCCCCAAAGCAGGCTTTGCAGTCCAGGCTCCCCAAGAAGCCAGGGGAGGAGACTCTGCCAGGCTGAAGGGTCTGTCCCCAAAGGTGCCACCCTCACCAGGCTCATCCTGACAATCTTGGATTATTTTTGCCCTGAAGTTTTGGAGTGGGGGACAGGGAGAGAGCAGACAGTACACATTAGCCACCTTTCCAGAGAGCATCAGCCCTCCAGACTGGGGCAGGTCAGACCTCCACTCAGGCATTTTTCTCACTGGTTGCCAGTTGGGGGAAGCAGTATTTGTGAGCACCTGCCTGTCTCCCCAGCTCCTGTTCAGAAACCCCATCTGTGCCTTTGGAGGGACTGCCCTGCGCACACAGGCCCAGCAACCACCATCTACGGCCCCCAGGACCTAATCCCCTTCTACTTGGGATTCAGTGCATGTTAGCAGACACTGGGCTTGATTCCTGCCTAGTCCCTGCCAGACATCCCATGCCCACCTCATTAAGAGAATGAGGCCACACAAACACACCCAGGCCATCGTGATGATGGAGTGCCTGGGGTCCCACTTGCCCACCCTTCATTGCTGGTTCAGAGCCAGCTCTGACCACATTCCTACCCTGAGATGGGACTCTGGGGACATTGTCCACCAGGGTCACTGACCCCTTTTAACGTTCCAGAAACATGGCCAGCTGGTCCCCTAGAAGTTTGGTATATGGGATAAGCCAAGGCTTGCCTTCAGCAACAGGTTTTCCACCACGTCACTGCCCAAGGCCCAGGGCATCCCCAAGTTCATGTGAAGCCTGCCTGCCATGTCCACAGCCCATACCGACCCCTCCTGGAGCCACTGGAATGCTTGTTCCTGGGCATGTGATGAACCCAGACAGCTTCCGCCTTGCAGGACAACTATGCGCATCTGGCAGCAGTAGCCAGAGGGCCCATAGAAAGAAGATGGAGGCAAAACCAGATGCTGTGAGAATACTTTATTAGTCAAAACCGCATACTATAAAAATGCTTTAAAACGCAGCAGGAGATGTGAAGACACAAATTAACAAGCGTATAGTGACACATGGCTGTCAGAACACAGTAAAGAATCCACACTGCTTCCCCCCTTTACCTAGAAAAGGAGAGTTCTAGGCCACCTCCTCCTCGGCATACTCCTCATCCTCCTCCTCCTCGGCCGTGGCATCCTGATATTGCTGATATTCAGACACCAGGTCGTTCATGTTGCTCTCGGCCTCGGTGAATTCCATCTCATCCATGCCCTCGCCCGTGTACCAGTGGAGGAAGGCCTTGCGCCTGAACATTGCTGTAAACTGCTCTGAGACACGCTTGAAGAGTTCCTGGATGGCCGTATTATTCCCAATGAAGGTGGCTGACATTTTTAGCCCCCGGGGTGGGATGTCACAGACGGCTGTTTTTACGTTGTTGGGGAGCCAGTCAGCAAAGTAACTGCTGTTCTTATCTTGAATGTTGAACATTTGTTCATCCACCTCCCTCATGGGCATGCGACCCCTGAAAATGGCAGCCGCCGTTAGGTAGCGGCCGTGACGGGGGTCACAGGCAGCCATCATGTTCTTAGCATCAAACATCTGCTGGGTAAGCTCAGCCACAGTCAAGGCCCGGTACTGCTGGCTGCCCCGGCTGGTCAGTGGGGCAAAGCCGGGCATGAAGAAATGCAGCCGGGGAAACGGGACCATGTTCACGGCCAGCTTCCGCAGGTCAGCATTCAGCTGGCCCGGGAAGTGCAGGCACGTGGTGACCCCACTCATGGTAGCAGACACCAGGTGGTTCAGGTCACCATAGGTGGGTGTGGGCAGTTTTAGGGTCTTGGAACATATGTCATACAGAGCTTCGTTATCTATGCAAAAGGTCTCATCTGCGTTTTCTATGAGCTGGTGGACTGAGAGGGTGGCGTTGTAGGGCTCCACCACGGTGTCCGACACCTTGGGCGAGGGCAGGATGCTGAATGTGTTTATGATCCTGTCTGGGTACTCCTCCCGGATCTTACTGAGCAGAAGGGTACCCATCCCAGACCCAGTCCCCCCACCCAGGGAGTGGGTCAGCTGGAAACCCTGCAGGCAGTCACAGCTCTCAGCCTCCTTTCTGACAACGTCCATCACTGACTCCATCAGCTCCGCGCCTTCGGTGTAGTGTCCCTTGGCCCAGTTGTTTCCGGCCCCACACTGACCTGTAAGACAGCACAGCCGGTCACTCGACGGCCAGGTATACGGTCATCAGTGGTCACCACCATAATGCAGAAAGAGCCAAGCGTCACACGTGAGGTGAGAGCACCGTTCGCCCTGCAGGTGGAGCAGATGAAACCCCCTCCCCCAGAGTTACAGGACAGCAGCTTCCCCTGTTAGGAATTAAGACAGGAGTCAAACCTGAGACGGGTTCACAGACCTCGCTGCAGGTGGCTCCTGCCCATTCTCAGGAAAGGCAGTAGCCACGGCCCCAGCTCAGGTTCTTGCAGGGAGTTTACATCAGTAACTCCTCACCTTGAGGAGACACCAGGGCCTTCCTCCCGAAGCCCATTTAGGAGAGGCAGATTGAGCGACTCGACTCGGAGGATAGGAGGGTGTTCAGGGGCCCTAGCTCCACAGTTCCCAGAGGATGACCTTAGCACACTCCTGGATTTTGAGCTGCCCTGGCTAAGGAGCCGCACCCCAGTCCTCGCCCGCAGCTCACCGAAGATGAAGTTGTCTGGCCTGAAGACCTGCCCGAAGGGCCCCGAGCGCACAGAGTCCATGGTGCCCGGCTCCAGATCCACGAGCACAGCGCGGGGCACGTACCTGCCACCTGCGTGGGGCGGGAGGGCATGAGCGAGGGGAGGGCCGCGTTCCCAGGAGGGCGGTGGGGGAAGGACGGGGGTCTCACCGCTGGCCTCGTTGTAGTACACGTTGATGCGCTCCAGCTGCAGGTGGCTGTCCCCGTGGTAGGTGCCAGCGGAGTCGATGGCATGTTCATCAGAGATCACCTCCCAGAACTGCAAGAGACGGGAGGAGACAGACAGGCCGGGGCTGAGTCAGGGAGGCGCCCCAGCCGCTCTCCCACCCCCACCCTCATCCGCACCCCCATCCCTAGGCCGCCCTGTCCCTGGGGTCCACCCCGGCCGCCTCGCCAGCCACCCGGTTCCACCGTCCCCGGCAGGGAGCCCAGGGGCCGCAATGCATGGGCACCGCCCCCGCCACTGCCAACACCTTCCCCGGCCACCCGGCAGGCCCGGGCTAGGCCCTCAGAGCCCCGGCTGCCAACCTTGGCGCCGATCTGATTCCCGCACTGCCCGATCTGCGTGAGCACGATCTCCCTCATGGCCAAGGCGGGATTAGGACGGCAGGAGAAACGTGAGAAGGAGGAGCAGACGCGCAGCGACCCAGCCCGCCCTCCGCCAACGTTTAAATAGCCCCGCGCCCACCTCCCTCCGCCTCGGATTCGGCTCCCAGAATAAGCAACAGCTTTACTTCCACACAGGTGCACCCACCTGTGGATCCCCTGGCGCTGAACATCTGTTGGAAAGCTCAGGTGTCCTTGCGTGGTCCTTTCCACGTTGGGGAAAGCTGCTCGCTGGAGAACTTCCTCCCGCGTCTTTAGTAAGACTAAATCCCTAGCTGAGCTGAAACTGAATTTTCCTCCCATGTGGGAGGGGAAGACTCTTGTTTCCATATGCACGGAGTGCCTTTGCACCTGTCCTAGATTGATGACATATTTTTGTAATTGATGAGTCTTTTCATCTATTAGGAGATCTGTGGTTAGGAAAGGCCTTCCACATGTGAACTCAACAGGACTCAATT
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Task1_train_13625
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Mutation context: Chromosome 10, Gene TUBB8 (tubulin beta 8 class VIII). Determine if this variant is likely to be benign or pathogenic. Mention the disease if applicable.
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Pathogenic; Oocyte maturation defect 2
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TCTCCTGCCTGCCTGTTCCCATTTGGCTGCAATAGACCATTGACAACATTCAGAGAACAAGAAGGGGCCTCACCTGTTTTCCCTGACACGTAGGAGGCAGATGGGCATTCCCAGGGGACCTGGGGTAGAGCCTGTTCATCTGCCCACCCCCAAGGCTATGCTGGCTTCATCTTATCTGTGCGATAGGGCTGGGGGTGGGGGTGGGAATTACCAGGAGACCATCACACAGGCCGTGGACAAGTTCTACAAGAGCCAGGGAGAACACTGTCCGTGCATGCGTCCCAGCACCCAGCTCACACATCTCTCATTTGACAGCTTCCCCAAAGCAGGCTTTGCAGTCCAGGCTCCCCAAGAAGCCAGGGGAGGAGACTCTGCCAGGCTGAAGGGTCTGTCCCCAAAGGTGCCACCCTCACCAGGCTCATCCTGACAATCTTGGATTATTTTTGCCCTGAAGTTTTGGAGTGGGGGACAGGGAGAGAGCAGACAGTACACATTAGCCACCTTTCCAGAGAGCATCAGCCCTCCAGACTGGGGCAGGTCAGACCTCCACTCAGGCATTTTTCTCACTGGTTGCCAGTTGGGGGAAGCAGTATTTGTGAGCACCTGCCTGTCTCCCCAGCTCCTGTTCAGAAACCCCATCTGTGCCTTTGGAGGGACTGCCCTGCGCACACAGGCCCAGCAACCACCATCTACGGCCCCCAGGACCTAATCCCCTTCTACTTGGGATTCAGTGCATGTTAGCAGACACTGGGCTTGATTCCTGCCTAGTCCCTGCCAGACATCCCATGCCCACCTCATTAAGAGAATGAGGCCACACAAACACACCCAGGCCATCGTGATGATGGAGTGCCTGGGGTCCCACTTGCCCACCCTTCATTGCTGGTTCAGAGCCAGCTCTGACCACATTCCTACCCTGAGATGGGACTCTGGGGACATTGTCCACCAGGGTCACTGACCCCTTTTAACGTTCCAGAAACATGGCCAGCTGGTCCCCTAGAAGTTTGGTATATGGGATAAGCCAAGGCTTGCCTTCAGCAACAGGTTTTCCACCACGTCACTGCCCAAGGCCCAGGGCATCCCCAAGTTCATGTGAAGCCTGCCTGCCATGTCCACAGCCCATACCGACCCCTCCTGGAGCCACTGGAATGCTTGTTCCTGGGCATGTGATGAACCCAGACAGCTTCCGCCTTGCAGGACAACTATGCGCATCTGGCAGCAGTAGCCAGAGGGCCCATAGAAAGAAGATGGAGGCAAAACCAGATGCTGTGAGAATACTTTATTAGTCAAAACCGCATACTATAAAAATGCTTTAAAACGCAGCAGGAGATGTGAAGACACAAATTAACAAGCGTATAGTGACACATGGCTGTCAGAACACAGTAAAGAATCCACACTGCTTCCCCCCTTTACCTAGAAAAGGAGAGTTCTAGGCCACCTCCTCCTCGGCATACTCCTCATCCTCCTCCTCCTCGGCCGTGGCATCCTGATATTGCTGATATTCAGACACCAGGTCGTTCATGTTGCTCTCGGCCTCGGTGAATTCCATCTCATCCATGCCCTCGCCCGTGTACCAGTGGAGGAAGGCCTTGCGCCTGAACATTGCTGTAAACTGCTCTGAGACACGCTTGAAGAGTTCCTGGATGGCCGTATTATTCCCAATGAAGGTGGCTGACATTTTTAGCCCCCGGGGTGGGATGTCACAGACGGCTGTTTTTACGTTGTTGGGGAGCCAGTCAGCAAAGTAACTGCTGTTCTTATCTTGAATGTTGAACATTTGTTCATCCACCTCCCTCATGGGCATGCGACCCCTGAAAATGGCAGCCGCCGTTAGGTAGCGGCCGTGACGGGGGTCACAGGCAGCCATCATGTTCTTAGCATCAAACATCTGCTGGGTAAGCTCAGCCACAGTCAAGGCCCGGTACTGCTGGCTGCCCCGGCTGGTCAGTGGGGCAAAGCCGGGCATGAAGAAATGCAGCCGGGGAAACGGGACCATGTTCACGGCCAGCTTCCGCAGGTCAGCATTCAGCTGGCCCGGGAAGCGCAGGCACGTGGTGACCCCACTCATGGTAGCAGACACCAGGTGGTTCAGGTCACCATAGGTGGGTGTGGGCAGTTTTAGGGTCTTGGAACATATGTCATACAGAGCTTCGTTATCTATGCAAAAGGTCTCATCTGCGTTTTCTATGAGCTGGTGGACTGAGAGGGTGGCGTTGTAGGGCTCCACCACGGTGTCCGACACCTTGGGCGAGGGCAGGATGCTGAATGTGTTTATGATCCTGTCTGGGTACTCCTCCCGGATCTTACTGAGCAGAAGGGTACCCATCCCAGACCCAGTCCCCCCACCCAGGGAGTGGGTCAGCTGGAAACCCTGCAGGCAGTCACAGCTCTCAGCCTCCTTTCTGACAACGTCCATCACTGACTCCATCAGCTCCGCGCCTTCGGTGTAGTGTCCCTTGGCCCAGTTGTTTCCGGCCCCACACTGACCTGTAAGACAGCACAGCCGGTCACTCGACGGCCAGGTATACGGTCATCAGTGGTCACCACCATAATGCAGAAAGAGCCAAGCGTCACACGTGAGGTGAGAGCACCGTTCGCCCTGCAGGTGGAGCAGATGAAACCCCCTCCCCCAGAGTTACAGGACAGCAGCTTCCCCTGTTAGGAATTAAGACAGGAGTCAAACCTGAGACGGGTTCACAGACCTCGCTGCAGGTGGCTCCTGCCCATTCTCAGGAAAGGCAGTAGCCACGGCCCCAGCTCAGGTTCTTGCAGGGAGTTTACATCAGTAACTCCTCACCTTGAGGAGACACCAGGGCCTTCCTCCCGAAGCCCATTTAGGAGAGGCAGATTGAGCGACTCGACTCGGAGGATAGGAGGGTGTTCAGGGGCCCTAGCTCCACAGTTCCCAGAGGATGACCTTAGCACACTCCTGGATTTTGAGCTGCCCTGGCTAAGGAGCCGCACCCCAGTCCTCGCCCGCAGCTCACCGAAGATGAAGTTGTCTGGCCTGAAGACCTGCCCGAAGGGCCCCGAGCGCACAGAGTCCATGGTGCCCGGCTCCAGATCCACGAGCACAGCGCGGGGCACGTACCTGCCACCTGCGTGGGGCGGGAGGGCATGAGCGAGGGGAGGGCCGCGTTCCCAGGAGGGCGGTGGGGGAAGGACGGGGGTCTCACCGCTGGCCTCGTTGTAGTACACGTTGATGCGCTCCAGCTGCAGGTGGCTGTCCCCGTGGTAGGTGCCAGCGGAGTCGATGGCATGTTCATCAGAGATCACCTCCCAGAACTGCAAGAGACGGGAGGAGACAGACAGGCCGGGGCTGAGTCAGGGAGGCGCCCCAGCCGCTCTCCCACCCCCACCCTCATCCGCACCCCCATCCCTAGGCCGCCCTGTCCCTGGGGTCCACCCCGGCCGCCTCGCCAGCCACCCGGTTCCACCGTCCCCGGCAGGGAGCCCAGGGGCCGCAATGCATGGGCACCGCCCCCGCCACTGCCAACACCTTCCCCGGCCACCCGGCAGGCCCGGGCTAGGCCCTCAGAGCCCCGGCTGCCAACCTTGGCGCCGATCTGATTCCCGCACTGCCCGATCTGCGTGAGCACGATCTCCCTCATGGCCAAGGCGGGATTAGGACGGCAGGAGAAACGTGAGAAGGAGGAGCAGACGCGCAGCGACCCAGCCCGCCCTCCGCCAACGTTTAAATAGCCCCGCGCCCACCTCCCTCCGCCTCGGATTCGGCTCCCAGAATAAGCAACAGCTTTACTTCCACACAGGTGCACCCACCTGTGGATCCCCTGGCGCTGAACATCTGTTGGAAAGCTCAGGTGTCCTTGCGTGGTCCTTTCCACGTTGGGGAAAGCTGCTCGCTGGAGAACTTCCTCCCGCGTCTTTAGTAAGACTAAATCCCTAGCTGAGCTGAAACTGAATTTTCCTCCCATGTGGGAGGGGAAGACTCTTGTTTCCATATGCACGGAGTGCCTTTGCACCTGTCCTAGATTGATGACATATTTTTGTAATTGATGAGTCTTTTCATCTATTAGGAGATCTGTGGTTAGGAAAGGCCTTCCACATGTGAACTCAACAGGACTCAATTATACGTTTT
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TCTCCTGCCTGCCTGTTCCCATTTGGCTGCAATAGACCATTGACAACATTCAGAGAACAAGAAGGGGCCTCACCTGTTTTCCCTGACACGTAGGAGGCAGATGGGCATTCCCAGGGGACCTGGGGTAGAGCCTGTTCATCTGCCCACCCCCAAGGCTATGCTGGCTTCATCTTATCTGTGCGATAGGGCTGGGGGTGGGGGTGGGAATTACCAGGAGACCATCACACAGGCCGTGGACAAGTTCTACAAGAGCCAGGGAGAACACTGTCCGTGCATGCGTCCCAGCACCCAGCTCACACATCTCTCATTTGACAGCTTCCCCAAAGCAGGCTTTGCAGTCCAGGCTCCCCAAGAAGCCAGGGGAGGAGACTCTGCCAGGCTGAAGGGTCTGTCCCCAAAGGTGCCACCCTCACCAGGCTCATCCTGACAATCTTGGATTATTTTTGCCCTGAAGTTTTGGAGTGGGGGACAGGGAGAGAGCAGACAGTACACATTAGCCACCTTTCCAGAGAGCATCAGCCCTCCAGACTGGGGCAGGTCAGACCTCCACTCAGGCATTTTTCTCACTGGTTGCCAGTTGGGGGAAGCAGTATTTGTGAGCACCTGCCTGTCTCCCCAGCTCCTGTTCAGAAACCCCATCTGTGCCTTTGGAGGGACTGCCCTGCGCACACAGGCCCAGCAACCACCATCTACGGCCCCCAGGACCTAATCCCCTTCTACTTGGGATTCAGTGCATGTTAGCAGACACTGGGCTTGATTCCTGCCTAGTCCCTGCCAGACATCCCATGCCCACCTCATTAAGAGAATGAGGCCACACAAACACACCCAGGCCATCGTGATGATGGAGTGCCTGGGGTCCCACTTGCCCACCCTTCATTGCTGGTTCAGAGCCAGCTCTGACCACATTCCTACCCTGAGATGGGACTCTGGGGACATTGTCCACCAGGGTCACTGACCCCTTTTAACGTTCCAGAAACATGGCCAGCTGGTCCCCTAGAAGTTTGGTATATGGGATAAGCCAAGGCTTGCCTTCAGCAACAGGTTTTCCACCACGTCACTGCCCAAGGCCCAGGGCATCCCCAAGTTCATGTGAAGCCTGCCTGCCATGTCCACAGCCCATACCGACCCCTCCTGGAGCCACTGGAATGCTTGTTCCTGGGCATGTGATGAACCCAGACAGCTTCCGCCTTGCAGGACAACTATGCGCATCTGGCAGCAGTAGCCAGAGGGCCCATAGAAAGAAGATGGAGGCAAAACCAGATGCTGTGAGAATACTTTATTAGTCAAAACCGCATACTATAAAAATGCTTTAAAACGCAGCAGGAGATGTGAAGACACAAATTAACAAGCGTATAGTGACACATGGCTGTCAGAACACAGTAAAGAATCCACACTGCTTCCCCCCTTTACCTAGAAAAGGAGAGTTCTAGGCCACCTCCTCCTCGGCATACTCCTCATCCTCCTCCTCCTCGGCCGTGGCATCCTGATATTGCTGATATTCAGACACCAGGTCGTTCATGTTGCTCTCGGCCTCGGTGAATTCCATCTCATCCATGCCCTCGCCCGTGTACCAGTGGAGGAAGGCCTTGCGCCTGAACATTGCTGTAAACTGCTCTGAGACACGCTTGAAGAGTTCCTGGATGGCCGTATTATTCCCAATGAAGGTGGCTGACATTTTTAGCCCCCGGGGTGGGATGTCACAGACGGCTGTTTTTACGTTGTTGGGGAGCCAGTCAGCAAAGTAACTGCTGTTCTTATCTTGAATGTTGAACATTTGTTCATCCACCTCCCTCATGGGCATGCGACCCCTGAAAATGGCAGCCGCCGTTAGGTAGCGGCCGTGACGGGGGTCACAGGCAGCCATCATGTTCTTAGCATCAAACATCTGCTGGGTAAGCTCAGCCACAGTCAAGGCCCGGTACTGCTGGCTGCCCCGGCTGGTCAGTGGGGCAAAGCCGGGCATGAAGAAATGCAGCCGGGGAAACGGGACCATGTTCACGGCCAGCTTCCGCAGGTCAGCATTCAGCTGGCCCGGGAAGCGCAGGCACATGGTGACCCCACTCATGGTAGCAGACACCAGGTGGTTCAGGTCACCATAGGTGGGTGTGGGCAGTTTTAGGGTCTTGGAACATATGTCATACAGAGCTTCGTTATCTATGCAAAAGGTCTCATCTGCGTTTTCTATGAGCTGGTGGACTGAGAGGGTGGCGTTGTAGGGCTCCACCACGGTGTCCGACACCTTGGGCGAGGGCAGGATGCTGAATGTGTTTATGATCCTGTCTGGGTACTCCTCCCGGATCTTACTGAGCAGAAGGGTACCCATCCCAGACCCAGTCCCCCCACCCAGGGAGTGGGTCAGCTGGAAACCCTGCAGGCAGTCACAGCTCTCAGCCTCCTTTCTGACAACGTCCATCACTGACTCCATCAGCTCCGCGCCTTCGGTGTAGTGTCCCTTGGCCCAGTTGTTTCCGGCCCCACACTGACCTGTAAGACAGCACAGCCGGTCACTCGACGGCCAGGTATACGGTCATCAGTGGTCACCACCATAATGCAGAAAGAGCCAAGCGTCACACGTGAGGTGAGAGCACCGTTCGCCCTGCAGGTGGAGCAGATGAAACCCCCTCCCCCAGAGTTACAGGACAGCAGCTTCCCCTGTTAGGAATTAAGACAGGAGTCAAACCTGAGACGGGTTCACAGACCTCGCTGCAGGTGGCTCCTGCCCATTCTCAGGAAAGGCAGTAGCCACGGCCCCAGCTCAGGTTCTTGCAGGGAGTTTACATCAGTAACTCCTCACCTTGAGGAGACACCAGGGCCTTCCTCCCGAAGCCCATTTAGGAGAGGCAGATTGAGCGACTCGACTCGGAGGATAGGAGGGTGTTCAGGGGCCCTAGCTCCACAGTTCCCAGAGGATGACCTTAGCACACTCCTGGATTTTGAGCTGCCCTGGCTAAGGAGCCGCACCCCAGTCCTCGCCCGCAGCTCACCGAAGATGAAGTTGTCTGGCCTGAAGACCTGCCCGAAGGGCCCCGAGCGCACAGAGTCCATGGTGCCCGGCTCCAGATCCACGAGCACAGCGCGGGGCACGTACCTGCCACCTGCGTGGGGCGGGAGGGCATGAGCGAGGGGAGGGCCGCGTTCCCAGGAGGGCGGTGGGGGAAGGACGGGGGTCTCACCGCTGGCCTCGTTGTAGTACACGTTGATGCGCTCCAGCTGCAGGTGGCTGTCCCCGTGGTAGGTGCCAGCGGAGTCGATGGCATGTTCATCAGAGATCACCTCCCAGAACTGCAAGAGACGGGAGGAGACAGACAGGCCGGGGCTGAGTCAGGGAGGCGCCCCAGCCGCTCTCCCACCCCCACCCTCATCCGCACCCCCATCCCTAGGCCGCCCTGTCCCTGGGGTCCACCCCGGCCGCCTCGCCAGCCACCCGGTTCCACCGTCCCCGGCAGGGAGCCCAGGGGCCGCAATGCATGGGCACCGCCCCCGCCACTGCCAACACCTTCCCCGGCCACCCGGCAGGCCCGGGCTAGGCCCTCAGAGCCCCGGCTGCCAACCTTGGCGCCGATCTGATTCCCGCACTGCCCGATCTGCGTGAGCACGATCTCCCTCATGGCCAAGGCGGGATTAGGACGGCAGGAGAAACGTGAGAAGGAGGAGCAGACGCGCAGCGACCCAGCCCGCCCTCCGCCAACGTTTAAATAGCCCCGCGCCCACCTCCCTCCGCCTCGGATTCGGCTCCCAGAATAAGCAACAGCTTTACTTCCACACAGGTGCACCCACCTGTGGATCCCCTGGCGCTGAACATCTGTTGGAAAGCTCAGGTGTCCTTGCGTGGTCCTTTCCACGTTGGGGAAAGCTGCTCGCTGGAGAACTTCCTCCCGCGTCTTTAGTAAGACTAAATCCCTAGCTGAGCTGAAACTGAATTTTCCTCCCATGTGGGAGGGGAAGACTCTTGTTTCCATATGCACGGAGTGCCTTTGCACCTGTCCTAGATTGATGACATATTTTTGTAATTGATGAGTCTTTTCATCTATTAGGAGATCTGTGGTTAGGAAAGGCCTTCCACATGTGAACTCAACAGGACTCAATTATACGTTTT
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Task1_train_13626
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A sequence alteration has been identified in TUBB8 (tubulin beta 8 class VIII) on Chromosome 10. Is it disease-inducing or harmless?
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Pathogenic; Oocyte maturation defect 2
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TGCAATAGACCATTGACAACATTCAGAGAACAAGAAGGGGCCTCACCTGTTTTCCCTGACACGTAGGAGGCAGATGGGCATTCCCAGGGGACCTGGGGTAGAGCCTGTTCATCTGCCCACCCCCAAGGCTATGCTGGCTTCATCTTATCTGTGCGATAGGGCTGGGGGTGGGGGTGGGAATTACCAGGAGACCATCACACAGGCCGTGGACAAGTTCTACAAGAGCCAGGGAGAACACTGTCCGTGCATGCGTCCCAGCACCCAGCTCACACATCTCTCATTTGACAGCTTCCCCAAAGCAGGCTTTGCAGTCCAGGCTCCCCAAGAAGCCAGGGGAGGAGACTCTGCCAGGCTGAAGGGTCTGTCCCCAAAGGTGCCACCCTCACCAGGCTCATCCTGACAATCTTGGATTATTTTTGCCCTGAAGTTTTGGAGTGGGGGACAGGGAGAGAGCAGACAGTACACATTAGCCACCTTTCCAGAGAGCATCAGCCCTCCAGACTGGGGCAGGTCAGACCTCCACTCAGGCATTTTTCTCACTGGTTGCCAGTTGGGGGAAGCAGTATTTGTGAGCACCTGCCTGTCTCCCCAGCTCCTGTTCAGAAACCCCATCTGTGCCTTTGGAGGGACTGCCCTGCGCACACAGGCCCAGCAACCACCATCTACGGCCCCCAGGACCTAATCCCCTTCTACTTGGGATTCAGTGCATGTTAGCAGACACTGGGCTTGATTCCTGCCTAGTCCCTGCCAGACATCCCATGCCCACCTCATTAAGAGAATGAGGCCACACAAACACACCCAGGCCATCGTGATGATGGAGTGCCTGGGGTCCCACTTGCCCACCCTTCATTGCTGGTTCAGAGCCAGCTCTGACCACATTCCTACCCTGAGATGGGACTCTGGGGACATTGTCCACCAGGGTCACTGACCCCTTTTAACGTTCCAGAAACATGGCCAGCTGGTCCCCTAGAAGTTTGGTATATGGGATAAGCCAAGGCTTGCCTTCAGCAACAGGTTTTCCACCACGTCACTGCCCAAGGCCCAGGGCATCCCCAAGTTCATGTGAAGCCTGCCTGCCATGTCCACAGCCCATACCGACCCCTCCTGGAGCCACTGGAATGCTTGTTCCTGGGCATGTGATGAACCCAGACAGCTTCCGCCTTGCAGGACAACTATGCGCATCTGGCAGCAGTAGCCAGAGGGCCCATAGAAAGAAGATGGAGGCAAAACCAGATGCTGTGAGAATACTTTATTAGTCAAAACCGCATACTATAAAAATGCTTTAAAACGCAGCAGGAGATGTGAAGACACAAATTAACAAGCGTATAGTGACACATGGCTGTCAGAACACAGTAAAGAATCCACACTGCTTCCCCCCTTTACCTAGAAAAGGAGAGTTCTAGGCCACCTCCTCCTCGGCATACTCCTCATCCTCCTCCTCCTCGGCCGTGGCATCCTGATATTGCTGATATTCAGACACCAGGTCGTTCATGTTGCTCTCGGCCTCGGTGAATTCCATCTCATCCATGCCCTCGCCCGTGTACCAGTGGAGGAAGGCCTTGCGCCTGAACATTGCTGTAAACTGCTCTGAGACACGCTTGAAGAGTTCCTGGATGGCCGTATTATTCCCAATGAAGGTGGCTGACATTTTTAGCCCCCGGGGTGGGATGTCACAGACGGCTGTTTTTACGTTGTTGGGGAGCCAGTCAGCAAAGTAACTGCTGTTCTTATCTTGAATGTTGAACATTTGTTCATCCACCTCCCTCATGGGCATGCGACCCCTGAAAATGGCAGCCGCCGTTAGGTAGCGGCCGTGACGGGGGTCACAGGCAGCCATCATGTTCTTAGCATCAAACATCTGCTGGGTAAGCTCAGCCACAGTCAAGGCCCGGTACTGCTGGCTGCCCCGGCTGGTCAGTGGGGCAAAGCCGGGCATGAAGAAATGCAGCCGGGGAAACGGGACCATGTTCACGGCCAGCTTCCGCAGGTCAGCATTCAGCTGGCCCGGGAAGCGCAGGCACGTGGTGACCCCACTCATGGTAGCAGACACCAGGTGGTTCAGGTCACCATAGGTGGGTGTGGGCAGTTTTAGGGTCTTGGAACATATGTCATACAGAGCTTCGTTATCTATGCAAAAGGTCTCATCTGCGTTTTCTATGAGCTGGTGGACTGAGAGGGTGGCGTTGTAGGGCTCCACCACGGTGTCCGACACCTTGGGCGAGGGCAGGATGCTGAATGTGTTTATGATCCTGTCTGGGTACTCCTCCCGGATCTTACTGAGCAGAAGGGTACCCATCCCAGACCCAGTCCCCCCACCCAGGGAGTGGGTCAGCTGGAAACCCTGCAGGCAGTCACAGCTCTCAGCCTCCTTTCTGACAACGTCCATCACTGACTCCATCAGCTCCGCGCCTTCGGTGTAGTGTCCCTTGGCCCAGTTGTTTCCGGCCCCACACTGACCTGTAAGACAGCACAGCCGGTCACTCGACGGCCAGGTATACGGTCATCAGTGGTCACCACCATAATGCAGAAAGAGCCAAGCGTCACACGTGAGGTGAGAGCACCGTTCGCCCTGCAGGTGGAGCAGATGAAACCCCCTCCCCCAGAGTTACAGGACAGCAGCTTCCCCTGTTAGGAATTAAGACAGGAGTCAAACCTGAGACGGGTTCACAGACCTCGCTGCAGGTGGCTCCTGCCCATTCTCAGGAAAGGCAGTAGCCACGGCCCCAGCTCAGGTTCTTGCAGGGAGTTTACATCAGTAACTCCTCACCTTGAGGAGACACCAGGGCCTTCCTCCCGAAGCCCATTTAGGAGAGGCAGATTGAGCGACTCGACTCGGAGGATAGGAGGGTGTTCAGGGGCCCTAGCTCCACAGTTCCCAGAGGATGACCTTAGCACACTCCTGGATTTTGAGCTGCCCTGGCTAAGGAGCCGCACCCCAGTCCTCGCCCGCAGCTCACCGAAGATGAAGTTGTCTGGCCTGAAGACCTGCCCGAAGGGCCCCGAGCGCACAGAGTCCATGGTGCCCGGCTCCAGATCCACGAGCACAGCGCGGGGCACGTACCTGCCACCTGCGTGGGGCGGGAGGGCATGAGCGAGGGGAGGGCCGCGTTCCCAGGAGGGCGGTGGGGGAAGGACGGGGGTCTCACCGCTGGCCTCGTTGTAGTACACGTTGATGCGCTCCAGCTGCAGGTGGCTGTCCCCGTGGTAGGTGCCAGCGGAGTCGATGGCATGTTCATCAGAGATCACCTCCCAGAACTGCAAGAGACGGGAGGAGACAGACAGGCCGGGGCTGAGTCAGGGAGGCGCCCCAGCCGCTCTCCCACCCCCACCCTCATCCGCACCCCCATCCCTAGGCCGCCCTGTCCCTGGGGTCCACCCCGGCCGCCTCGCCAGCCACCCGGTTCCACCGTCCCCGGCAGGGAGCCCAGGGGCCGCAATGCATGGGCACCGCCCCCGCCACTGCCAACACCTTCCCCGGCCACCCGGCAGGCCCGGGCTAGGCCCTCAGAGCCCCGGCTGCCAACCTTGGCGCCGATCTGATTCCCGCACTGCCCGATCTGCGTGAGCACGATCTCCCTCATGGCCAAGGCGGGATTAGGACGGCAGGAGAAACGTGAGAAGGAGGAGCAGACGCGCAGCGACCCAGCCCGCCCTCCGCCAACGTTTAAATAGCCCCGCGCCCACCTCCCTCCGCCTCGGATTCGGCTCCCAGAATAAGCAACAGCTTTACTTCCACACAGGTGCACCCACCTGTGGATCCCCTGGCGCTGAACATCTGTTGGAAAGCTCAGGTGTCCTTGCGTGGTCCTTTCCACGTTGGGGAAAGCTGCTCGCTGGAGAACTTCCTCCCGCGTCTTTAGTAAGACTAAATCCCTAGCTGAGCTGAAACTGAATTTTCCTCCCATGTGGGAGGGGAAGACTCTTGTTTCCATATGCACGGAGTGCCTTTGCACCTGTCCTAGATTGATGACATATTTTTGTAATTGATGAGTCTTTTCATCTATTAGGAGATCTGTGGTTAGGAAAGGCCTTCCACATGTGAACTCAACAGGACTCAATTATACGTTTTACTTTGGAGCAGTTCTAACCCACAATA
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TGCAATAGACCATTGACAACATTCAGAGAACAAGAAGGGGCCTCACCTGTTTTCCCTGACACGTAGGAGGCAGATGGGCATTCCCAGGGGACCTGGGGTAGAGCCTGTTCATCTGCCCACCCCCAAGGCTATGCTGGCTTCATCTTATCTGTGCGATAGGGCTGGGGGTGGGGGTGGGAATTACCAGGAGACCATCACACAGGCCGTGGACAAGTTCTACAAGAGCCAGGGAGAACACTGTCCGTGCATGCGTCCCAGCACCCAGCTCACACATCTCTCATTTGACAGCTTCCCCAAAGCAGGCTTTGCAGTCCAGGCTCCCCAAGAAGCCAGGGGAGGAGACTCTGCCAGGCTGAAGGGTCTGTCCCCAAAGGTGCCACCCTCACCAGGCTCATCCTGACAATCTTGGATTATTTTTGCCCTGAAGTTTTGGAGTGGGGGACAGGGAGAGAGCAGACAGTACACATTAGCCACCTTTCCAGAGAGCATCAGCCCTCCAGACTGGGGCAGGTCAGACCTCCACTCAGGCATTTTTCTCACTGGTTGCCAGTTGGGGGAAGCAGTATTTGTGAGCACCTGCCTGTCTCCCCAGCTCCTGTTCAGAAACCCCATCTGTGCCTTTGGAGGGACTGCCCTGCGCACACAGGCCCAGCAACCACCATCTACGGCCCCCAGGACCTAATCCCCTTCTACTTGGGATTCAGTGCATGTTAGCAGACACTGGGCTTGATTCCTGCCTAGTCCCTGCCAGACATCCCATGCCCACCTCATTAAGAGAATGAGGCCACACAAACACACCCAGGCCATCGTGATGATGGAGTGCCTGGGGTCCCACTTGCCCACCCTTCATTGCTGGTTCAGAGCCAGCTCTGACCACATTCCTACCCTGAGATGGGACTCTGGGGACATTGTCCACCAGGGTCACTGACCCCTTTTAACGTTCCAGAAACATGGCCAGCTGGTCCCCTAGAAGTTTGGTATATGGGATAAGCCAAGGCTTGCCTTCAGCAACAGGTTTTCCACCACGTCACTGCCCAAGGCCCAGGGCATCCCCAAGTTCATGTGAAGCCTGCCTGCCATGTCCACAGCCCATACCGACCCCTCCTGGAGCCACTGGAATGCTTGTTCCTGGGCATGTGATGAACCCAGACAGCTTCCGCCTTGCAGGACAACTATGCGCATCTGGCAGCAGTAGCCAGAGGGCCCATAGAAAGAAGATGGAGGCAAAACCAGATGCTGTGAGAATACTTTATTAGTCAAAACCGCATACTATAAAAATGCTTTAAAACGCAGCAGGAGATGTGAAGACACAAATTAACAAGCGTATAGTGACACATGGCTGTCAGAACACAGTAAAGAATCCACACTGCTTCCCCCCTTTACCTAGAAAAGGAGAGTTCTAGGCCACCTCCTCCTCGGCATACTCCTCATCCTCCTCCTCCTCGGCCGTGGCATCCTGATATTGCTGATATTCAGACACCAGGTCGTTCATGTTGCTCTCGGCCTCGGTGAATTCCATCTCATCCATGCCCTCGCCCGTGTACCAGTGGAGGAAGGCCTTGCGCCTGAACATTGCTGTAAACTGCTCTGAGACACGCTTGAAGAGTTCCTGGATGGCCGTATTATTCCCAATGAAGGTGGCTGACATTTTTAGCCCCCGGGGTGGGATGTCACAGACGGCTGTTTTTACGTTGTTGGGGAGCCAGTCAGCAAAGTAACTGCTGTTCTTATCTTGAATGTTGAACATTTGTTCATCCACCTCCCTCATGGGCATGCGACCCCTGAAAATGGCAGCCGCCGTTAGGTAGCGGCCGTGACGGGGGTCACAGGCAGCCATCATGTTCTTAGCATCAAACATCTGCTGGGTAAGCTCAGCCACAGTCAAGGCCCGGTACTGCTGGCTGCCCCGGCTGGTCAGTGGGGCAAAGCCGGGCATGAAGAAATGCAGCCGGGGAAACGGGACCATGTTCACGGCCAGCTTCCGCAGGTCAGCATTCAGCTGGCCCGGGAAGCGCAGGCACGTGGTGACCCCACTCATGGTAGCAGACGCCAGGTGGTTCAGGTCACCATAGGTGGGTGTGGGCAGTTTTAGGGTCTTGGAACATATGTCATACAGAGCTTCGTTATCTATGCAAAAGGTCTCATCTGCGTTTTCTATGAGCTGGTGGACTGAGAGGGTGGCGTTGTAGGGCTCCACCACGGTGTCCGACACCTTGGGCGAGGGCAGGATGCTGAATGTGTTTATGATCCTGTCTGGGTACTCCTCCCGGATCTTACTGAGCAGAAGGGTACCCATCCCAGACCCAGTCCCCCCACCCAGGGAGTGGGTCAGCTGGAAACCCTGCAGGCAGTCACAGCTCTCAGCCTCCTTTCTGACAACGTCCATCACTGACTCCATCAGCTCCGCGCCTTCGGTGTAGTGTCCCTTGGCCCAGTTGTTTCCGGCCCCACACTGACCTGTAAGACAGCACAGCCGGTCACTCGACGGCCAGGTATACGGTCATCAGTGGTCACCACCATAATGCAGAAAGAGCCAAGCGTCACACGTGAGGTGAGAGCACCGTTCGCCCTGCAGGTGGAGCAGATGAAACCCCCTCCCCCAGAGTTACAGGACAGCAGCTTCCCCTGTTAGGAATTAAGACAGGAGTCAAACCTGAGACGGGTTCACAGACCTCGCTGCAGGTGGCTCCTGCCCATTCTCAGGAAAGGCAGTAGCCACGGCCCCAGCTCAGGTTCTTGCAGGGAGTTTACATCAGTAACTCCTCACCTTGAGGAGACACCAGGGCCTTCCTCCCGAAGCCCATTTAGGAGAGGCAGATTGAGCGACTCGACTCGGAGGATAGGAGGGTGTTCAGGGGCCCTAGCTCCACAGTTCCCAGAGGATGACCTTAGCACACTCCTGGATTTTGAGCTGCCCTGGCTAAGGAGCCGCACCCCAGTCCTCGCCCGCAGCTCACCGAAGATGAAGTTGTCTGGCCTGAAGACCTGCCCGAAGGGCCCCGAGCGCACAGAGTCCATGGTGCCCGGCTCCAGATCCACGAGCACAGCGCGGGGCACGTACCTGCCACCTGCGTGGGGCGGGAGGGCATGAGCGAGGGGAGGGCCGCGTTCCCAGGAGGGCGGTGGGGGAAGGACGGGGGTCTCACCGCTGGCCTCGTTGTAGTACACGTTGATGCGCTCCAGCTGCAGGTGGCTGTCCCCGTGGTAGGTGCCAGCGGAGTCGATGGCATGTTCATCAGAGATCACCTCCCAGAACTGCAAGAGACGGGAGGAGACAGACAGGCCGGGGCTGAGTCAGGGAGGCGCCCCAGCCGCTCTCCCACCCCCACCCTCATCCGCACCCCCATCCCTAGGCCGCCCTGTCCCTGGGGTCCACCCCGGCCGCCTCGCCAGCCACCCGGTTCCACCGTCCCCGGCAGGGAGCCCAGGGGCCGCAATGCATGGGCACCGCCCCCGCCACTGCCAACACCTTCCCCGGCCACCCGGCAGGCCCGGGCTAGGCCCTCAGAGCCCCGGCTGCCAACCTTGGCGCCGATCTGATTCCCGCACTGCCCGATCTGCGTGAGCACGATCTCCCTCATGGCCAAGGCGGGATTAGGACGGCAGGAGAAACGTGAGAAGGAGGAGCAGACGCGCAGCGACCCAGCCCGCCCTCCGCCAACGTTTAAATAGCCCCGCGCCCACCTCCCTCCGCCTCGGATTCGGCTCCCAGAATAAGCAACAGCTTTACTTCCACACAGGTGCACCCACCTGTGGATCCCCTGGCGCTGAACATCTGTTGGAAAGCTCAGGTGTCCTTGCGTGGTCCTTTCCACGTTGGGGAAAGCTGCTCGCTGGAGAACTTCCTCCCGCGTCTTTAGTAAGACTAAATCCCTAGCTGAGCTGAAACTGAATTTTCCTCCCATGTGGGAGGGGAAGACTCTTGTTTCCATATGCACGGAGTGCCTTTGCACCTGTCCTAGATTGATGACATATTTTTGTAATTGATGAGTCTTTTCATCTATTAGGAGATCTGTGGTTAGGAAAGGCCTTCCACATGTGAACTCAACAGGACTCAATTATACGTTTTACTTTGGAGCAGTTCTAACCCACAATA
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Task1_train_13627
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Gene TUBB8 (tubulin beta 8 class VIII), found on Chromosome 10, is impacted by this variant. What is the biological outcome — benign or pathogenic?
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Pathogenic; Oocyte maturation defect 2
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GGCTGGGGGTGGGGGTGGGAATTACCAGGAGACCATCACACAGGCCGTGGACAAGTTCTACAAGAGCCAGGGAGAACACTGTCCGTGCATGCGTCCCAGCACCCAGCTCACACATCTCTCATTTGACAGCTTCCCCAAAGCAGGCTTTGCAGTCCAGGCTCCCCAAGAAGCCAGGGGAGGAGACTCTGCCAGGCTGAAGGGTCTGTCCCCAAAGGTGCCACCCTCACCAGGCTCATCCTGACAATCTTGGATTATTTTTGCCCTGAAGTTTTGGAGTGGGGGACAGGGAGAGAGCAGACAGTACACATTAGCCACCTTTCCAGAGAGCATCAGCCCTCCAGACTGGGGCAGGTCAGACCTCCACTCAGGCATTTTTCTCACTGGTTGCCAGTTGGGGGAAGCAGTATTTGTGAGCACCTGCCTGTCTCCCCAGCTCCTGTTCAGAAACCCCATCTGTGCCTTTGGAGGGACTGCCCTGCGCACACAGGCCCAGCAACCACCATCTACGGCCCCCAGGACCTAATCCCCTTCTACTTGGGATTCAGTGCATGTTAGCAGACACTGGGCTTGATTCCTGCCTAGTCCCTGCCAGACATCCCATGCCCACCTCATTAAGAGAATGAGGCCACACAAACACACCCAGGCCATCGTGATGATGGAGTGCCTGGGGTCCCACTTGCCCACCCTTCATTGCTGGTTCAGAGCCAGCTCTGACCACATTCCTACCCTGAGATGGGACTCTGGGGACATTGTCCACCAGGGTCACTGACCCCTTTTAACGTTCCAGAAACATGGCCAGCTGGTCCCCTAGAAGTTTGGTATATGGGATAAGCCAAGGCTTGCCTTCAGCAACAGGTTTTCCACCACGTCACTGCCCAAGGCCCAGGGCATCCCCAAGTTCATGTGAAGCCTGCCTGCCATGTCCACAGCCCATACCGACCCCTCCTGGAGCCACTGGAATGCTTGTTCCTGGGCATGTGATGAACCCAGACAGCTTCCGCCTTGCAGGACAACTATGCGCATCTGGCAGCAGTAGCCAGAGGGCCCATAGAAAGAAGATGGAGGCAAAACCAGATGCTGTGAGAATACTTTATTAGTCAAAACCGCATACTATAAAAATGCTTTAAAACGCAGCAGGAGATGTGAAGACACAAATTAACAAGCGTATAGTGACACATGGCTGTCAGAACACAGTAAAGAATCCACACTGCTTCCCCCCTTTACCTAGAAAAGGAGAGTTCTAGGCCACCTCCTCCTCGGCATACTCCTCATCCTCCTCCTCCTCGGCCGTGGCATCCTGATATTGCTGATATTCAGACACCAGGTCGTTCATGTTGCTCTCGGCCTCGGTGAATTCCATCTCATCCATGCCCTCGCCCGTGTACCAGTGGAGGAAGGCCTTGCGCCTGAACATTGCTGTAAACTGCTCTGAGACACGCTTGAAGAGTTCCTGGATGGCCGTATTATTCCCAATGAAGGTGGCTGACATTTTTAGCCCCCGGGGTGGGATGTCACAGACGGCTGTTTTTACGTTGTTGGGGAGCCAGTCAGCAAAGTAACTGCTGTTCTTATCTTGAATGTTGAACATTTGTTCATCCACCTCCCTCATGGGCATGCGACCCCTGAAAATGGCAGCCGCCGTTAGGTAGCGGCCGTGACGGGGGTCACAGGCAGCCATCATGTTCTTAGCATCAAACATCTGCTGGGTAAGCTCAGCCACAGTCAAGGCCCGGTACTGCTGGCTGCCCCGGCTGGTCAGTGGGGCAAAGCCGGGCATGAAGAAATGCAGCCGGGGAAACGGGACCATGTTCACGGCCAGCTTCCGCAGGTCAGCATTCAGCTGGCCCGGGAAGCGCAGGCACGTGGTGACCCCACTCATGGTAGCAGACACCAGGTGGTTCAGGTCACCATAGGTGGGTGTGGGCAGTTTTAGGGTCTTGGAACATATGTCATACAGAGCTTCGTTATCTATGCAAAAGGTCTCATCTGCGTTTTCTATGAGCTGGTGGACTGAGAGGGTGGCGTTGTAGGGCTCCACCACGGTGTCCGACACCTTGGGCGAGGGCAGGATGCTGAATGTGTTTATGATCCTGTCTGGGTACTCCTCCCGGATCTTACTGAGCAGAAGGGTACCCATCCCAGACCCAGTCCCCCCACCCAGGGAGTGGGTCAGCTGGAAACCCTGCAGGCAGTCACAGCTCTCAGCCTCCTTTCTGACAACGTCCATCACTGACTCCATCAGCTCCGCGCCTTCGGTGTAGTGTCCCTTGGCCCAGTTGTTTCCGGCCCCACACTGACCTGTAAGACAGCACAGCCGGTCACTCGACGGCCAGGTATACGGTCATCAGTGGTCACCACCATAATGCAGAAAGAGCCAAGCGTCACACGTGAGGTGAGAGCACCGTTCGCCCTGCAGGTGGAGCAGATGAAACCCCCTCCCCCAGAGTTACAGGACAGCAGCTTCCCCTGTTAGGAATTAAGACAGGAGTCAAACCTGAGACGGGTTCACAGACCTCGCTGCAGGTGGCTCCTGCCCATTCTCAGGAAAGGCAGTAGCCACGGCCCCAGCTCAGGTTCTTGCAGGGAGTTTACATCAGTAACTCCTCACCTTGAGGAGACACCAGGGCCTTCCTCCCGAAGCCCATTTAGGAGAGGCAGATTGAGCGACTCGACTCGGAGGATAGGAGGGTGTTCAGGGGCCCTAGCTCCACAGTTCCCAGAGGATGACCTTAGCACACTCCTGGATTTTGAGCTGCCCTGGCTAAGGAGCCGCACCCCAGTCCTCGCCCGCAGCTCACCGAAGATGAAGTTGTCTGGCCTGAAGACCTGCCCGAAGGGCCCCGAGCGCACAGAGTCCATGGTGCCCGGCTCCAGATCCACGAGCACAGCGCGGGGCACGTACCTGCCACCTGCGTGGGGCGGGAGGGCATGAGCGAGGGGAGGGCCGCGTTCCCAGGAGGGCGGTGGGGGAAGGACGGGGGTCTCACCGCTGGCCTCGTTGTAGTACACGTTGATGCGCTCCAGCTGCAGGTGGCTGTCCCCGTGGTAGGTGCCAGCGGAGTCGATGGCATGTTCATCAGAGATCACCTCCCAGAACTGCAAGAGACGGGAGGAGACAGACAGGCCGGGGCTGAGTCAGGGAGGCGCCCCAGCCGCTCTCCCACCCCCACCCTCATCCGCACCCCCATCCCTAGGCCGCCCTGTCCCTGGGGTCCACCCCGGCCGCCTCGCCAGCCACCCGGTTCCACCGTCCCCGGCAGGGAGCCCAGGGGCCGCAATGCATGGGCACCGCCCCCGCCACTGCCAACACCTTCCCCGGCCACCCGGCAGGCCCGGGCTAGGCCCTCAGAGCCCCGGCTGCCAACCTTGGCGCCGATCTGATTCCCGCACTGCCCGATCTGCGTGAGCACGATCTCCCTCATGGCCAAGGCGGGATTAGGACGGCAGGAGAAACGTGAGAAGGAGGAGCAGACGCGCAGCGACCCAGCCCGCCCTCCGCCAACGTTTAAATAGCCCCGCGCCCACCTCCCTCCGCCTCGGATTCGGCTCCCAGAATAAGCAACAGCTTTACTTCCACACAGGTGCACCCACCTGTGGATCCCCTGGCGCTGAACATCTGTTGGAAAGCTCAGGTGTCCTTGCGTGGTCCTTTCCACGTTGGGGAAAGCTGCTCGCTGGAGAACTTCCTCCCGCGTCTTTAGTAAGACTAAATCCCTAGCTGAGCTGAAACTGAATTTTCCTCCCATGTGGGAGGGGAAGACTCTTGTTTCCATATGCACGGAGTGCCTTTGCACCTGTCCTAGATTGATGACATATTTTTGTAATTGATGAGTCTTTTCATCTATTAGGAGATCTGTGGTTAGGAAAGGCCTTCCACATGTGAACTCAACAGGACTCAATTATACGTTTTACTTTGGAGCAGTTCTAACCCACAATAAGCTATGGGTGTTAGAGACAGTCAGGCCTCTGATTTAGCTGGAGTCTTCTTTAGAGTAGGGTTAGCCCTTTCACCTTTCCAGAGGACTGTGGTCTCCAGCAGAGTGAAGGTCATATTGGATTCTTAAAGCTGAGGACAGGTTTTGGGATACGCCTGCTG
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GGCTGGGGGTGGGGGTGGGAATTACCAGGAGACCATCACACAGGCCGTGGACAAGTTCTACAAGAGCCAGGGAGAACACTGTCCGTGCATGCGTCCCAGCACCCAGCTCACACATCTCTCATTTGACAGCTTCCCCAAAGCAGGCTTTGCAGTCCAGGCTCCCCAAGAAGCCAGGGGAGGAGACTCTGCCAGGCTGAAGGGTCTGTCCCCAAAGGTGCCACCCTCACCAGGCTCATCCTGACAATCTTGGATTATTTTTGCCCTGAAGTTTTGGAGTGGGGGACAGGGAGAGAGCAGACAGTACACATTAGCCACCTTTCCAGAGAGCATCAGCCCTCCAGACTGGGGCAGGTCAGACCTCCACTCAGGCATTTTTCTCACTGGTTGCCAGTTGGGGGAAGCAGTATTTGTGAGCACCTGCCTGTCTCCCCAGCTCCTGTTCAGAAACCCCATCTGTGCCTTTGGAGGGACTGCCCTGCGCACACAGGCCCAGCAACCACCATCTACGGCCCCCAGGACCTAATCCCCTTCTACTTGGGATTCAGTGCATGTTAGCAGACACTGGGCTTGATTCCTGCCTAGTCCCTGCCAGACATCCCATGCCCACCTCATTAAGAGAATGAGGCCACACAAACACACCCAGGCCATCGTGATGATGGAGTGCCTGGGGTCCCACTTGCCCACCCTTCATTGCTGGTTCAGAGCCAGCTCTGACCACATTCCTACCCTGAGATGGGACTCTGGGGACATTGTCCACCAGGGTCACTGACCCCTTTTAACGTTCCAGAAACATGGCCAGCTGGTCCCCTAGAAGTTTGGTATATGGGATAAGCCAAGGCTTGCCTTCAGCAACAGGTTTTCCACCACGTCACTGCCCAAGGCCCAGGGCATCCCCAAGTTCATGTGAAGCCTGCCTGCCATGTCCACAGCCCATACCGACCCCTCCTGGAGCCACTGGAATGCTTGTTCCTGGGCATGTGATGAACCCAGACAGCTTCCGCCTTGCAGGACAACTATGCGCATCTGGCAGCAGTAGCCAGAGGGCCCATAGAAAGAAGATGGAGGCAAAACCAGATGCTGTGAGAATACTTTATTAGTCAAAACCGCATACTATAAAAATGCTTTAAAACGCAGCAGGAGATGTGAAGACACAAATTAACAAGCGTATAGTGACACATGGCTGTCAGAACACAGTAAAGAATCCACACTGCTTCCCCCCTTTACCTAGAAAAGGAGAGTTCTAGGCCACCTCCTCCTCGGCATACTCCTCATCCTCCTCCTCCTCGGCCGTGGCATCCTGATATTGCTGATATTCAGACACCAGGTCGTTCATGTTGCTCTCGGCCTCGGTGAATTCCATCTCATCCATGCCCTCGCCCGTGTACCAGTGGAGGAAGGCCTTGCGCCTGAACATTGCTGTAAACTGCTCTGAGACACGCTTGAAGAGTTCCTGGATGGCCGTATTATTCCCAATGAAGGTGGCTGACATTTTTAGCCCCCGGGGTGGGATGTCACAGACGGCTGTTTTTACGTTGTTGGGGAGCCAGTCAGCAAAGTAACTGCTGTTCTTATCTTGAATGTTGAACATTTGTTCATCCACCTCCCTCATGGGCATGCGACCCCTGAAAATGGCAGCCGCCGTTAGGTAGCGGCCGTGACGGGGGTCACAGGCAGCCATCATGTTCTTAGCATCAAACATCTGCTGGGTAAGCTCAGCCACAGTCAAGGCCCGGTACTGCTGGCTGCCCCGGCTGGTCAGTGGGGCAAAGCCGGGCATGAAGAAATGCAGCCGGGGAAACGGGACCATGTTCACGGCCAGCTTCCGCAGGTCAGCATTCAGCTGGCCCGGGAAGCGCAGGCACGTGGTGACCCCACTCATGGTAGCAGACACCAGGTGGTTCAGGTCACCATAGGTGGGTGTGGGCAGTTTTAGGGTCTTGGAACATATGTCATACAGAGCTTCGTTATCTATGCAAAAGGTCTCATCTGCGTTTTCTATGAGCTGGTGGACTGAGAGGGTGGCGTTGTAGGGCTCCACCACGGTGTCCAACACCTTGGGCGAGGGCAGGATGCTGAATGTGTTTATGATCCTGTCTGGGTACTCCTCCCGGATCTTACTGAGCAGAAGGGTACCCATCCCAGACCCAGTCCCCCCACCCAGGGAGTGGGTCAGCTGGAAACCCTGCAGGCAGTCACAGCTCTCAGCCTCCTTTCTGACAACGTCCATCACTGACTCCATCAGCTCCGCGCCTTCGGTGTAGTGTCCCTTGGCCCAGTTGTTTCCGGCCCCACACTGACCTGTAAGACAGCACAGCCGGTCACTCGACGGCCAGGTATACGGTCATCAGTGGTCACCACCATAATGCAGAAAGAGCCAAGCGTCACACGTGAGGTGAGAGCACCGTTCGCCCTGCAGGTGGAGCAGATGAAACCCCCTCCCCCAGAGTTACAGGACAGCAGCTTCCCCTGTTAGGAATTAAGACAGGAGTCAAACCTGAGACGGGTTCACAGACCTCGCTGCAGGTGGCTCCTGCCCATTCTCAGGAAAGGCAGTAGCCACGGCCCCAGCTCAGGTTCTTGCAGGGAGTTTACATCAGTAACTCCTCACCTTGAGGAGACACCAGGGCCTTCCTCCCGAAGCCCATTTAGGAGAGGCAGATTGAGCGACTCGACTCGGAGGATAGGAGGGTGTTCAGGGGCCCTAGCTCCACAGTTCCCAGAGGATGACCTTAGCACACTCCTGGATTTTGAGCTGCCCTGGCTAAGGAGCCGCACCCCAGTCCTCGCCCGCAGCTCACCGAAGATGAAGTTGTCTGGCCTGAAGACCTGCCCGAAGGGCCCCGAGCGCACAGAGTCCATGGTGCCCGGCTCCAGATCCACGAGCACAGCGCGGGGCACGTACCTGCCACCTGCGTGGGGCGGGAGGGCATGAGCGAGGGGAGGGCCGCGTTCCCAGGAGGGCGGTGGGGGAAGGACGGGGGTCTCACCGCTGGCCTCGTTGTAGTACACGTTGATGCGCTCCAGCTGCAGGTGGCTGTCCCCGTGGTAGGTGCCAGCGGAGTCGATGGCATGTTCATCAGAGATCACCTCCCAGAACTGCAAGAGACGGGAGGAGACAGACAGGCCGGGGCTGAGTCAGGGAGGCGCCCCAGCCGCTCTCCCACCCCCACCCTCATCCGCACCCCCATCCCTAGGCCGCCCTGTCCCTGGGGTCCACCCCGGCCGCCTCGCCAGCCACCCGGTTCCACCGTCCCCGGCAGGGAGCCCAGGGGCCGCAATGCATGGGCACCGCCCCCGCCACTGCCAACACCTTCCCCGGCCACCCGGCAGGCCCGGGCTAGGCCCTCAGAGCCCCGGCTGCCAACCTTGGCGCCGATCTGATTCCCGCACTGCCCGATCTGCGTGAGCACGATCTCCCTCATGGCCAAGGCGGGATTAGGACGGCAGGAGAAACGTGAGAAGGAGGAGCAGACGCGCAGCGACCCAGCCCGCCCTCCGCCAACGTTTAAATAGCCCCGCGCCCACCTCCCTCCGCCTCGGATTCGGCTCCCAGAATAAGCAACAGCTTTACTTCCACACAGGTGCACCCACCTGTGGATCCCCTGGCGCTGAACATCTGTTGGAAAGCTCAGGTGTCCTTGCGTGGTCCTTTCCACGTTGGGGAAAGCTGCTCGCTGGAGAACTTCCTCCCGCGTCTTTAGTAAGACTAAATCCCTAGCTGAGCTGAAACTGAATTTTCCTCCCATGTGGGAGGGGAAGACTCTTGTTTCCATATGCACGGAGTGCCTTTGCACCTGTCCTAGATTGATGACATATTTTTGTAATTGATGAGTCTTTTCATCTATTAGGAGATCTGTGGTTAGGAAAGGCCTTCCACATGTGAACTCAACAGGACTCAATTATACGTTTTACTTTGGAGCAGTTCTAACCCACAATAAGCTATGGGTGTTAGAGACAGTCAGGCCTCTGATTTAGCTGGAGTCTTCTTTAGAGTAGGGTTAGCCCTTTCACCTTTCCAGAGGACTGTGGTCTCCAGCAGAGTGAAGGTCATATTGGATTCTTAAAGCTGAGGACAGGTTTTGGGATACGCCTGCTG
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Task1_train_13628
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With a mutation on Chromosome 10 in gene TUBB8 (tubulin beta 8 class VIII), classify this variant as benign or pathogenic. Include the disease if it's pathogenic.
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Pathogenic; Oocyte maturation defect 2
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GCCCTCGCCCGTGTACCAGTGGAGGAAGGCCTTGCGCCTGAACATTGCTGTAAACTGCTCTGAGACACGCTTGAAGAGTTCCTGGATGGCCGTATTATTCCCAATGAAGGTGGCTGACATTTTTAGCCCCCGGGGTGGGATGTCACAGACGGCTGTTTTTACGTTGTTGGGGAGCCAGTCAGCAAAGTAACTGCTGTTCTTATCTTGAATGTTGAACATTTGTTCATCCACCTCCCTCATGGGCATGCGACCCCTGAAAATGGCAGCCGCCGTTAGGTAGCGGCCGTGACGGGGGTCACAGGCAGCCATCATGTTCTTAGCATCAAACATCTGCTGGGTAAGCTCAGCCACAGTCAAGGCCCGGTACTGCTGGCTGCCCCGGCTGGTCAGTGGGGCAAAGCCGGGCATGAAGAAATGCAGCCGGGGAAACGGGACCATGTTCACGGCCAGCTTCCGCAGGTCAGCATTCAGCTGGCCCGGGAAGCGCAGGCACGTGGTGACCCCACTCATGGTAGCAGACACCAGGTGGTTCAGGTCACCATAGGTGGGTGTGGGCAGTTTTAGGGTCTTGGAACATATGTCATACAGAGCTTCGTTATCTATGCAAAAGGTCTCATCTGCGTTTTCTATGAGCTGGTGGACTGAGAGGGTGGCGTTGTAGGGCTCCACCACGGTGTCCGACACCTTGGGCGAGGGCAGGATGCTGAATGTGTTTATGATCCTGTCTGGGTACTCCTCCCGGATCTTACTGAGCAGAAGGGTACCCATCCCAGACCCAGTCCCCCCACCCAGGGAGTGGGTCAGCTGGAAACCCTGCAGGCAGTCACAGCTCTCAGCCTCCTTTCTGACAACGTCCATCACTGACTCCATCAGCTCCGCGCCTTCGGTGTAGTGTCCCTTGGCCCAGTTGTTTCCGGCCCCACACTGACCTGTAAGACAGCACAGCCGGTCACTCGACGGCCAGGTATACGGTCATCAGTGGTCACCACCATAATGCAGAAAGAGCCAAGCGTCACACGTGAGGTGAGAGCACCGTTCGCCCTGCAGGTGGAGCAGATGAAACCCCCTCCCCCAGAGTTACAGGACAGCAGCTTCCCCTGTTAGGAATTAAGACAGGAGTCAAACCTGAGACGGGTTCACAGACCTCGCTGCAGGTGGCTCCTGCCCATTCTCAGGAAAGGCAGTAGCCACGGCCCCAGCTCAGGTTCTTGCAGGGAGTTTACATCAGTAACTCCTCACCTTGAGGAGACACCAGGGCCTTCCTCCCGAAGCCCATTTAGGAGAGGCAGATTGAGCGACTCGACTCGGAGGATAGGAGGGTGTTCAGGGGCCCTAGCTCCACAGTTCCCAGAGGATGACCTTAGCACACTCCTGGATTTTGAGCTGCCCTGGCTAAGGAGCCGCACCCCAGTCCTCGCCCGCAGCTCACCGAAGATGAAGTTGTCTGGCCTGAAGACCTGCCCGAAGGGCCCCGAGCGCACAGAGTCCATGGTGCCCGGCTCCAGATCCACGAGCACAGCGCGGGGCACGTACCTGCCACCTGCGTGGGGCGGGAGGGCATGAGCGAGGGGAGGGCCGCGTTCCCAGGAGGGCGGTGGGGGAAGGACGGGGGTCTCACCGCTGGCCTCGTTGTAGTACACGTTGATGCGCTCCAGCTGCAGGTGGCTGTCCCCGTGGTAGGTGCCAGCGGAGTCGATGGCATGTTCATCAGAGATCACCTCCCAGAACTGCAAGAGACGGGAGGAGACAGACAGGCCGGGGCTGAGTCAGGGAGGCGCCCCAGCCGCTCTCCCACCCCCACCCTCATCCGCACCCCCATCCCTAGGCCGCCCTGTCCCTGGGGTCCACCCCGGCCGCCTCGCCAGCCACCCGGTTCCACCGTCCCCGGCAGGGAGCCCAGGGGCCGCAATGCATGGGCACCGCCCCCGCCACTGCCAACACCTTCCCCGGCCACCCGGCAGGCCCGGGCTAGGCCCTCAGAGCCCCGGCTGCCAACCTTGGCGCCGATCTGATTCCCGCACTGCCCGATCTGCGTGAGCACGATCTCCCTCATGGCCAAGGCGGGATTAGGACGGCAGGAGAAACGTGAGAAGGAGGAGCAGACGCGCAGCGACCCAGCCCGCCCTCCGCCAACGTTTAAATAGCCCCGCGCCCACCTCCCTCCGCCTCGGATTCGGCTCCCAGAATAAGCAACAGCTTTACTTCCACACAGGTGCACCCACCTGTGGATCCCCTGGCGCTGAACATCTGTTGGAAAGCTCAGGTGTCCTTGCGTGGTCCTTTCCACGTTGGGGAAAGCTGCTCGCTGGAGAACTTCCTCCCGCGTCTTTAGTAAGACTAAATCCCTAGCTGAGCTGAAACTGAATTTTCCTCCCATGTGGGAGGGGAAGACTCTTGTTTCCATATGCACGGAGTGCCTTTGCACCTGTCCTAGATTGATGACATATTTTTGTAATTGATGAGTCTTTTCATCTATTAGGAGATCTGTGGTTAGGAAAGGCCTTCCACATGTGAACTCAACAGGACTCAATTATACGTTTTACTTTGGAGCAGTTCTAACCCACAATAAGCTATGGGTGTTAGAGACAGTCAGGCCTCTGATTTAGCTGGAGTCTTCTTTAGAGTAGGGTTAGCCCTTTCACCTTTCCAGAGGACTGTGGTCTCCAGCAGAGTGAAGGTCATATTGGATTCTTAAAGCTGAGGACAGGTTTTGGGATACGCCTGCTGTGAAAGATGGGCCATTGTCACTTTGCAGGCTTTTGGATTACCCAAACTGAGGAGTTATTTCTTCTGGTAAACATTTTTCAGATGGGGTGGGGAATGCCTCGATCTAACCAGTGAAGGTGTCAGTAAGCATTAGCAAATATTTGAATCTCCTGCAGAAAGGCTTCCGGGTAAATTAGAGTGGCCAGTTCTCACCTGGATAGGTTCCTCAATTTTGGACAGGTTTAACTGGAGAAGGAGAAAATTGCTGGCCATTTGAGTCATGTCAGGCACAAAGCTCACAGGGCTGAGTCACCTGTTTTAGTGTCTTGAAAAGATTTACCCCTATAAACAAATGAGACATTAACAGAAACAAAGAATCCCTTCTAGGGTGAAAAGAATCATGAAAGTGCTGAGTTATACTCCTGTGATTGGTACTTGGCATTAGTAATTTATTACCATCATTCAGCCCGAGGGGCCCTGGACTGAAATGCAATCCCTGGCCCATTTTCGTTCTTCTTCAGGGTATTCTGGCCCAGTTCTATGTATGCTGACCAGCACGCCCACAAGCTTCATTGGCCCTTTCAGTGCAGGGGCCTTGGCTGTGGCATCTACAAGGGCATTTCCTTTTACATGGTCAGTCTCTCTTTTGATGTCCTCTGCAATTAATTATACTCACTTTTTGGCAGCAAAGCAGCACTCTAACAAGCTCAAAATCTGAACGATGTTGTATGGAAAAGCCCTTGGGGGTCAGGAGTCCCCACCCATTCCAAATTGCAGCATAAGCATGAAGCACTAAAAAATCATACTTGGAATCAGTGTAAATGTTAACTTTTAAATTCTTTCCCAACTGCAGGGGCCTAGTTAGTTCAATTAACTCAGCTTTTTGAGCTGCTGAGGTCGAAGCCAGCAAGGCTTGTGCCTTGATTGATTCTCTTGTGCTAATAATAGCATATTTAGCCCTCCTGTTTTCCTGATGCATAAAACAACTTGCATCTGTTAACCACTCTTCCTTGGGATGGTCCAGGGAATCATCTCTCTTATGTCTGGCCTGCTAGAATCAATTTGTTTCATAACCTGTGACATGCTTTGGCTGTGTCCCCAGTCAAATCTTATCTTGAATTGTAGCTCCCCTAATTCCCATATATTGTGGGAGGGACCCAGTGGGAGGTAATTGAATCAGGGGATGGGTCTTTCCCATGCTGTTCTCATGACAGTGAATAAGCCTCATGAGATCTGATGGTTTATTTATTTATTTATTTTTGAGACAGAGTCTTGCTCTGTTGCTCAGGCTGGAGTGCAACCTCTGACTGCTGGGTTCAAGCGATTCCTGTCTCAGCCTCCCGAGTGGCTGGGATTACAGGCGCCCACCACCATGCCTGTCTAATTTTTC
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GCCCTCGCCCGTGTACCAGTGGAGGAAGGCCTTGCGCCTGAACATTGCTGTAAACTGCTCTGAGACACGCTTGAAGAGTTCCTGGATGGCCGTATTATTCCCAATGAAGGTGGCTGACATTTTTAGCCCCCGGGGTGGGATGTCACAGACGGCTGTTTTTACGTTGTTGGGGAGCCAGTCAGCAAAGTAACTGCTGTTCTTATCTTGAATGTTGAACATTTGTTCATCCACCTCCCTCATGGGCATGCGACCCCTGAAAATGGCAGCCGCCGTTAGGTAGCGGCCGTGACGGGGGTCACAGGCAGCCATCATGTTCTTAGCATCAAACATCTGCTGGGTAAGCTCAGCCACAGTCAAGGCCCGGTACTGCTGGCTGCCCCGGCTGGTCAGTGGGGCAAAGCCGGGCATGAAGAAATGCAGCCGGGGAAACGGGACCATGTTCACGGCCAGCTTCCGCAGGTCAGCATTCAGCTGGCCCGGGAAGCGCAGGCACGTGGTGACCCCACTCATGGTAGCAGACACCAGGTGGTTCAGGTCACCATAGGTGGGTGTGGGCAGTTTTAGGGTCTTGGAACATATGTCATACAGAGCTTCGTTATCTATGCAAAAGGTCTCATCTGCGTTTTCTATGAGCTGGTGGACTGAGAGGGTGGCGTTGTAGGGCTCCACCACGGTGTCCGACACCTTGGGCGAGGGCAGGATGCTGAATGTGTTTATGATCCTGTCTGGGTACTCCTCCCGGATCTTACTGAGCAGAAGGGTACCCATCCCAGACCCAGTCCCCCCACCCAGGGAGTGGGTCAGCTGGAAACCCTGCAGGCAGTCACAGCTCTCAGCCTCCTTTCTGACAACGTCCATCACTGACTCCATCAGCTCCGCGCCTTCGGTGTAGTGTCCCTTGGCCCAGTTGTTTCCGGCCCCACACTGACCTGTAAGACAGCACAGCCGGTCACTCGACGGCCAGGTATACGGTCATCAGTGGTCACCACCATAATGCAGAAAGAGCCAAGCGTCACACGTGAGGTGAGAGCACCGTTCGCCCTGCAGGTGGAGCAGATGAAACCCCCTCCCCCAGAGTTACAGGACAGCAGCTTCCCCTGTTAGGAATTAAGACAGGAGTCAAACCTGAGACGGGTTCACAGACCTCGCTGCAGGTGGCTCCTGCCCATTCTCAGGAAAGGCAGTAGCCACGGCCCCAGCTCAGGTTCTTGCAGGGAGTTTACATCAGTAACTCCTCACCTTGAGGAGACACCAGGGCCTTCCTCCCGAAGCCCATTTAGGAGAGGCAGATTGAGCGACTCGACTCGGAGGATAGGAGGGTGTTCAGGGGCCCTAGCTCCACAGTTCCCAGAGGATGACCTTAGCACACTCCTGGATTTTGAGCTGCCCTGGCTAAGGAGCCGCACCCCAGTCCTCGCCCGCAGCTCACCGAAGATGAAGTTGTCTGGCCTGAAGACCTGCCCGAAGGGCCCCGAGCGCACAGAGTCCATGGTGCCCGGCTCCAGATCCACGAGCACAGCGCGGGGCACGTACCTGCCACCTGCGTGGGGCGGGAGGGCATGAGCGAGGGGAGGGCCGCGTTCCCAGGAGGGCGGTGGGGGAAGGACGGGGGTCTCACCGCTGGCCTCGTTGTAGTACACGTTGATGCGCTCCAGCTGCAGGTGGCTGTCCCCGTGGTAGGTGCCAGCGGAGTCGATGGCATGTTCATCAGAGATCACCTCCCAGAACTGCAAGAGACGGGAGGAGACAGACAGGCCGGGGCTGAGTCAGGGAGGCGCCCCAGCCGCTCTCCCACCCCCACCCTCATCCGCACCCCCATCCCTAGGCCGCCCTGTCCCTGGGGTCCACCCCGGCCGCCTCGCCAGCCACCCGGTTCCACCGTCCCCGGCAGGGAGCCCAGGGGCCGCAATGCATGGGCACCGCCCCCGCCACTGCCAACACCTTCCCCGGCCACCCGGCAGGCCCGGGCTAGGCCCTCAGAGCCCCGGCTGCCAACCTTGGCGCCGATCTGATTCCCGCACTGCCCGATCTGCGTGAGCACGATCTCCTTCATGGCCAAGGCGGGATTAGGACGGCAGGAGAAACGTGAGAAGGAGGAGCAGACGCGCAGCGACCCAGCCCGCCCTCCGCCAACGTTTAAATAGCCCCGCGCCCACCTCCCTCCGCCTCGGATTCGGCTCCCAGAATAAGCAACAGCTTTACTTCCACACAGGTGCACCCACCTGTGGATCCCCTGGCGCTGAACATCTGTTGGAAAGCTCAGGTGTCCTTGCGTGGTCCTTTCCACGTTGGGGAAAGCTGCTCGCTGGAGAACTTCCTCCCGCGTCTTTAGTAAGACTAAATCCCTAGCTGAGCTGAAACTGAATTTTCCTCCCATGTGGGAGGGGAAGACTCTTGTTTCCATATGCACGGAGTGCCTTTGCACCTGTCCTAGATTGATGACATATTTTTGTAATTGATGAGTCTTTTCATCTATTAGGAGATCTGTGGTTAGGAAAGGCCTTCCACATGTGAACTCAACAGGACTCAATTATACGTTTTACTTTGGAGCAGTTCTAACCCACAATAAGCTATGGGTGTTAGAGACAGTCAGGCCTCTGATTTAGCTGGAGTCTTCTTTAGAGTAGGGTTAGCCCTTTCACCTTTCCAGAGGACTGTGGTCTCCAGCAGAGTGAAGGTCATATTGGATTCTTAAAGCTGAGGACAGGTTTTGGGATACGCCTGCTGTGAAAGATGGGCCATTGTCACTTTGCAGGCTTTTGGATTACCCAAACTGAGGAGTTATTTCTTCTGGTAAACATTTTTCAGATGGGGTGGGGAATGCCTCGATCTAACCAGTGAAGGTGTCAGTAAGCATTAGCAAATATTTGAATCTCCTGCAGAAAGGCTTCCGGGTAAATTAGAGTGGCCAGTTCTCACCTGGATAGGTTCCTCAATTTTGGACAGGTTTAACTGGAGAAGGAGAAAATTGCTGGCCATTTGAGTCATGTCAGGCACAAAGCTCACAGGGCTGAGTCACCTGTTTTAGTGTCTTGAAAAGATTTACCCCTATAAACAAATGAGACATTAACAGAAACAAAGAATCCCTTCTAGGGTGAAAAGAATCATGAAAGTGCTGAGTTATACTCCTGTGATTGGTACTTGGCATTAGTAATTTATTACCATCATTCAGCCCGAGGGGCCCTGGACTGAAATGCAATCCCTGGCCCATTTTCGTTCTTCTTCAGGGTATTCTGGCCCAGTTCTATGTATGCTGACCAGCACGCCCACAAGCTTCATTGGCCCTTTCAGTGCAGGGGCCTTGGCTGTGGCATCTACAAGGGCATTTCCTTTTACATGGTCAGTCTCTCTTTTGATGTCCTCTGCAATTAATTATACTCACTTTTTGGCAGCAAAGCAGCACTCTAACAAGCTCAAAATCTGAACGATGTTGTATGGAAAAGCCCTTGGGGGTCAGGAGTCCCCACCCATTCCAAATTGCAGCATAAGCATGAAGCACTAAAAAATCATACTTGGAATCAGTGTAAATGTTAACTTTTAAATTCTTTCCCAACTGCAGGGGCCTAGTTAGTTCAATTAACTCAGCTTTTTGAGCTGCTGAGGTCGAAGCCAGCAAGGCTTGTGCCTTGATTGATTCTCTTGTGCTAATAATAGCATATTTAGCCCTCCTGTTTTCCTGATGCATAAAACAACTTGCATCTGTTAACCACTCTTCCTTGGGATGGTCCAGGGAATCATCTCTCTTATGTCTGGCCTGCTAGAATCAATTTGTTTCATAACCTGTGACATGCTTTGGCTGTGTCCCCAGTCAAATCTTATCTTGAATTGTAGCTCCCCTAATTCCCATATATTGTGGGAGGGACCCAGTGGGAGGTAATTGAATCAGGGGATGGGTCTTTCCCATGCTGTTCTCATGACAGTGAATAAGCCTCATGAGATCTGATGGTTTATTTATTTATTTATTTTTGAGACAGAGTCTTGCTCTGTTGCTCAGGCTGGAGTGCAACCTCTGACTGCTGGGTTCAAGCGATTCCTGTCTCAGCCTCCCGAGTGGCTGGGATTACAGGCGCCCACCACCATGCCTGTCTAATTTTTC
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Task1_train_13629
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Given a variant located on Chromosome 10 and affecting ZMYND11 (zinc finger MYND-type containing 11), assess whether it is benign or pathogenic. Indicate the associated disease if pathogenic.
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Pathogenic; Intellectual disability, autosomal dominant 30
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TTGGCTTTTACATTTTCCTACATATTTACCATTTTGCAGAGTTCCTCATCTCTTTCTGCTGAAATTTTACCTCAGCGAGAAGTAGTGTCTCCCTTGTCTGAATTTTTATAGCACATATTGTGGACCATTTATATGTCATATATGACCTTACAGTTAGTTCCATGTATATGTCAAATTTCCTCTGCCAGTTTTAGATTATTTTCTTGGCAAGGGTCGCCGTTTATACAGTTTTAACTACTTCATTGTGTCTAGCACAGTGCCTTAGATAAAGTGGACACCTGTATATATTTTTAACTATGTAAGAATGAGTGAAACTTTGTTCATTTATCTGAGTATTTATATAATCTCACAGGATTGAGTTGTATTATTACAGTTCACCATTAGATGTCACTTTCTGACATATGTTAAATCCTTACCAATGAATTCCTTCCATTAAGGCATATTGGATTCTGAAAGTTGGTGCTCCAACACAAGTGCACTTAAACAGATAAATTTTTGTACATTTAAAAGTGATTACTGTCTAAAATGGAAGTGTTCCTAAGTTATAATTTTTATATTTTCATTATGTATAAATTTATACAGAACTAACTGATTTTCCTAAAGTTTTCTTTAGAACTTGAATACTGGTATTGTTTTTGAATTATTTGCTCTGTGGAGCAGCTTGGAACTATTAGAAGTAATAGTGTGAGAATATTCAGGAATACCTTTAAACATGTTCAAAATGTATTCTGATGGTGGTGTAATTCTGAAAGACATCTTATTTTAGGAGCCTGACTGACCCAGTTTTCTCAGGTTTTGATAGCAACTATATAGTTTATTTGTGTTTGCCTGAGAAAGGAGGGGAACTGAGTAGGCTGTGAAGAAACACAGAGGTAGAGAAAAAGGAGATTCCTGTGGCTGTCTTGGCCAGTCATGGAACACAGCAAAGTGCTTCCCTCCCTCATTCTCTAAACTTAAAAGATAGGAAAGGGCAGGTCAAGGAGATTTCAGCAATCTCAGAAGGCTTAATGTTCACTGTATATTTAAGAACCTAGATTTTAAACTCAGCATGATAACATGTATGATCTAGAGAGATGTTTCAGTGCGTCCCCAATGCTAGGATTCATGACAAACGCTTACCAGATTCCTACAAGCACGTCTCTCCATGCTGAGTTAAGAGAATCCTCTCTGTGATACCACTGCTCTCCGGACATCCAGGGTTTAACCTCTTTTCTTTCCCCATCTTGCCAGGAGACAGCAGGAAAATTATTGGGAGGTGGGAGGTGTGGTGGCAGTTTTCTTCAATTCATCTGGAATACTAAAATTTGAGTAAAATAACAATGCTGTTTCCTAATAGTGTAATAAATACCCCCAAAACTTACACCTAATCCAAGAATGTTACCATTCTTCATAATTTGTGACCTTCTAGTGTTCTGTCCCTCAACCTTTCACATCTCATTCCAGGAGTAACTTTCTTATATTTAATGTTCATGGTTTGATTTAAAATAATATTGTTTTCATATATCTATGTATGTATATAAAATTTGATTTTTAAGCCATGATTATAATAAACTAAAGTGCCAATTAGAATATTTAAATTCCATTTTGTATTGATCAAATTACAAACAACGCGATGTCAACAAATGAAGTTTTATCTTGGAGTATTTCTGTGTTTTAGAATAAACTTAAATGCATTTTCTGAAAGTATATTGGTATGAAGTGACCACTTATCCTTCCTGGGATAACCTTTTTAACTTTTTGGCTTTTAGAATGTCATTCTTCATGATGTAATGAAATGAATGATACTTTATATGAAGTAACTGGTGATGTGGATGGTAGAAAAAAATAGAAAGTGGGCAATACTACATACTAAGTATAATCAATAGTTGAGAGGTCCTGATAATGTTACTCACTTATACTGATAATTCATTTTGTAATCTGTTTTTTTCCCTTATGTTTTTGTTTATTACTGCAGCTAAAGAAGTAAACAGGTCATGGCACGTTTAACAAAAAGACGACAGGCGGATACAAAAGCTATCCAGCATCTTTGGGCAGCCATTGAGATTATACGGAACCAGAAGCAGATTGCCAACATTGACCGTATTACAAAGTAAGTAAATTTAAACACAAATATCTCTGTAAAATGTCGTAGAAGACTTTGGGGGAAAGGCCAAAAAAAATTTTATCTGTTATGCTAATCAACATATATTACAAAGAACTGAAGACACTTTTTGCTTTGCAGGAGTATTATTAGAAAAACAAACACAGAAACATACACAAACAACTTGTGTTTAGAAGTTTCATAGAAAAATTAGATAAGGAAAATATCACTATATACTATTTATAATAGTTTTTTAGTTAACCAAATTTTTAACTCTATTTATTGATTTATTTATTTTGAGACGGAGTCTCATTCTGTTGCCCAGGCTGGAGTGTGGTGACCCGATCTCAGCTCATGGCAACCTCCGCTTCCCGGGTTCAAGTGATTCTCCAGCCTCAGCCTCCCAAGTAGCTGGGATTACAGGCACCCGCCACCACGCCCAGCTAATTTTTTGTATTTTTAGTAGAGAGAGGGTTTCACCATGTTGGCCAGGCTGATCTCAAACTCCTGACCTCGTGATTCGCCCGCCTTGGCGTCCCAAAGTGCTGGGATTTACAGGCGTGAGCCACTGCACCTGGCCAGAGATTCTTTTATTAAAAACACCTTTAGTGAATCACTTTTATGTAGCGAAGCTATCTAAAAACAGTCTACTGTTTATTACTAATTTTAACATAGGATAGGCATGGTATGTGTAGTAAGAAACATCTTACTACTTTATAGCCCACTAACAGAATTTTTAACAATTTCCTTCTGTATTTTAGAAATCATGTTAAATAAACATTCAGTTTTAAAGAAGAAAATTGTCCACCCCCATCCCCTAGTTTCTCATGCTATTTATATGGGTAGACAGATTCAGGATACCAAAAAAAAAAATCAAAGTACCTTATGAAGCTTCTATTTACATGTTGTATGCTAATTATAAGGGAGTCTTCAATTAGGAACTTGGTTTTGTTTTGTTTCTCTGGGTATTCTTAAAGATATAAAGCTAAATTTATCTTTTTTAAGTGTTTGGAATTTTAAAAATAATTTAGAGAAAATTTCTTGATACTTTTCACATTCTTTAGATGCTATGGGTAGAAATGGAGAATGGGAGTAATTTACAAAACTCACTTAAATAAATGCTTTTTTTGGCCTTTATTAATAAGTAATATATTGAGTTCCATGTATTTTTGTCCTTTCCCTGTATGCTGGTGAAGAAGATTACAAAGGCTACTTAACGATGGGCTCAGTGGCTCACGCCTGTAATCCCAGCACTTCAGCAGGCCAAGGCTGGTGGATCGCCTGAGCTCAGGAGTTTGAGACCAGCCTGGCCAACATGGTGAAACCCTGTCTCTGCCAAAGATACAAAAATTAGCCTGGTGTGGTGGTGCACACCTGTGGTCCCAACCACTCAGGAGGCTGAGGTGGGAGAATCACTTGAGCCTGGGAGGCAGAGGTTGCAGTGAGCCGAGGAAAGGCCACTGCACTCCAACCTGGGTAACAGTGAGACCCCTGTCTCACAACAAACCAACAAAGAAACCCAAAGGCTACTTAAGAGGGAAGAAAAAAGGAGATAGAGAAGGGGTGAGGATATATGTGGCTCCAATTCTGTACTCGCCTTTGTGGTATTTTAAAGCTATGTACAACTCCTTGCTCCTATAAGATAGTAGAAGAAAAAAAAGATAATACTATGTGAACAATAAGAATAAAATAAATAGTACATTATTTTAATTATTATGCTTTTAAATAAAGCACATAATTTGGGGTATGATAACTACATGCAAATGATGTTGATGTAAAACATTTTAAAAAAACTCAGAGTACAAAACAGTATTTTCTTATGGTTGAGATTTTTAAAAAACCATCCTTTACATAAAAATTGCTTAGAGAAGAATGTTTAAATAAAATAAGGTTTTCTTTGGATTCAGCTTTTTAAATTAAAATCATGTAAACATGACAGCCGTTTCAGTTTTTCAGATGACCTTTGTTCATCTGTAGCATGTTTCTCTAGAAGCTTTAGGGACATTTCTCTAAGCA
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TTGGCTTTTACATTTTCCTACATATTTACCATTTTGCAGAGTTCCTCATCTCTTTCTGCTGAAATTTTACCTCAGCGAGAAGTAGTGTCTCCCTTGTCTGAATTTTTATAGCACATATTGTGGACCATTTATATGTCATATATGACCTTACAGTTAGTTCCATGTATATGTCAAATTTCCTCTGCCAGTTTTAGATTATTTTCTTGGCAAGGGTCGCCGTTTATACAGTTTTAACTACTTCATTGTGTCTAGCACAGTGCCTTAGATAAAGTGGACACCTGTATATATTTTTAACTATGTAAGAATGAGTGAAACTTTGTTCATTTATCTGAGTATTTATATAATCTCACAGGATTGAGTTGTATTATTACAGTTCACCATTAGATGTCACTTTCTGACATATGTTAAATCCTTACCAATGAATTCCTTCCATTAAGGCATATTGGATTCTGAAAGTTGGTGCTCCAACACAAGTGCACTTAAACAGATAAATTTTTGTACATTTAAAAGTGATTACTGTCTAAAATGGAAGTGTTCCTAAGTTATAATTTTTATATTTTCATTATGTATAAATTTATACAGAACTAACTGATTTTCCTAAAGTTTTCTTTAGAACTTGAATACTGGTATTGTTTTTGAATTATTTGCTCTGTGGAGCAGCTTGGAACTATTAGAAGTAATAGTGTGAGAATATTCAGGAATACCTTTAAACATGTTCAAAATGTATTCTGATGGTGGTGTAATTCTGAAAGACATCTTATTTTAGGAGCCTGACTGACCCAGTTTTCTCAGGTTTTGATAGCAACTATATAGTTTATTTGTGTTTGCCTGAGAAAGGAGGGGAACTGAGTAGGCTGTGAAGAAACACAGAGGTAGAGAAAAAGGAGATTCCTGTGGCTGTCTTGGCCAGTCATGGAACACAGCAAAGTGCTTCCCTCCCTCATTCTCTAAACTTAAAAGATAGGAAAGGGCAGGTCAAGGAGATTTCAGCAATCTCAGAAGGCTTAATGTTCACTGTATATTTAAGAACCTAGATTTTAAACTCAGCATGATAACATGTATGATCTAGAGAGATGTTTCAGTGCGTCCCCAATGCTAGGATTCATGACAAACGCTTACCAGATTCCTACAAGCACGTCTCTCCATGCTGAGTTAAGAGAATCCTCTCTGTGATACCACTGCTCTCCGGACATCCAGGGTTTAACCTCTTTTCTTTCCCCATCTTGCCAGGAGACAGCAGGAAAATTATTGGGAGGTGGGAGGTGTGGTGGCAGTTTTCTTCAATTCATCTGGAATACTAAAATTTGAGTAAAATAACAATGCTGTTTCCTAATAGTGTAATAAATACCCCCAAAACTTACACCTAATCCAAGAATGTTACCATTCTTCATAATTTGTGACCTTCTAGTGTTCTGTCCCTCAACCTTTCACATCTCATTCCAGGAGTAACTTTCTTATATTTAATGTTCATGGTTTGATTTAAAATAATATTGTTTTCATATATCTATGTATGTATATAAAATTTGATTTTTAAGCCATGATTATAATAAACTAAAGTGCCAATTAGAATATTTAAATTCCATTTTGTATTGATCAAATTACAAACAACGCGATGTCAACAAATGAAGTTTTATCTTGGAGTATTTCTGTGTTTTAGAATAAACTTAAATGCATTTTCTGAAAGTATATTGGTATGAAGTGACCACTTATCCTTCCTGGGATAACCTTTTTAACTTTTTGGCTTTTAGAATGTCATTCTTCATGATGTAATGAAATGAATGATACTTTATATGAAGTAACTGGTGATGTGGATGGTAGAAAAAAATAGAAAGTGGGCAATACTACATACTAAGTATAATCAATAGTTGAGAGGTCCTGATAATGTTACTCACTTATACTGATAATTCATTTTGTAATCTGTTTTTTTCCCTTATGTTTTTGTTTATTACTGCAGCTAAAGAAGTAAACAGGTCATGGCACGTTTAACAAAAAGACGACAGGCGGATACAAAAGCTATCCAGCATCTTTGGGCAGCCATTGAGATTATATGGAACCAGAAGCAGATTGCCAACATTGACCGTATTACAAAGTAAGTAAATTTAAACACAAATATCTCTGTAAAATGTCGTAGAAGACTTTGGGGGAAAGGCCAAAAAAAATTTTATCTGTTATGCTAATCAACATATATTACAAAGAACTGAAGACACTTTTTGCTTTGCAGGAGTATTATTAGAAAAACAAACACAGAAACATACACAAACAACTTGTGTTTAGAAGTTTCATAGAAAAATTAGATAAGGAAAATATCACTATATACTATTTATAATAGTTTTTTAGTTAACCAAATTTTTAACTCTATTTATTGATTTATTTATTTTGAGACGGAGTCTCATTCTGTTGCCCAGGCTGGAGTGTGGTGACCCGATCTCAGCTCATGGCAACCTCCGCTTCCCGGGTTCAAGTGATTCTCCAGCCTCAGCCTCCCAAGTAGCTGGGATTACAGGCACCCGCCACCACGCCCAGCTAATTTTTTGTATTTTTAGTAGAGAGAGGGTTTCACCATGTTGGCCAGGCTGATCTCAAACTCCTGACCTCGTGATTCGCCCGCCTTGGCGTCCCAAAGTGCTGGGATTTACAGGCGTGAGCCACTGCACCTGGCCAGAGATTCTTTTATTAAAAACACCTTTAGTGAATCACTTTTATGTAGCGAAGCTATCTAAAAACAGTCTACTGTTTATTACTAATTTTAACATAGGATAGGCATGGTATGTGTAGTAAGAAACATCTTACTACTTTATAGCCCACTAACAGAATTTTTAACAATTTCCTTCTGTATTTTAGAAATCATGTTAAATAAACATTCAGTTTTAAAGAAGAAAATTGTCCACCCCCATCCCCTAGTTTCTCATGCTATTTATATGGGTAGACAGATTCAGGATACCAAAAAAAAAAATCAAAGTACCTTATGAAGCTTCTATTTACATGTTGTATGCTAATTATAAGGGAGTCTTCAATTAGGAACTTGGTTTTGTTTTGTTTCTCTGGGTATTCTTAAAGATATAAAGCTAAATTTATCTTTTTTAAGTGTTTGGAATTTTAAAAATAATTTAGAGAAAATTTCTTGATACTTTTCACATTCTTTAGATGCTATGGGTAGAAATGGAGAATGGGAGTAATTTACAAAACTCACTTAAATAAATGCTTTTTTTGGCCTTTATTAATAAGTAATATATTGAGTTCCATGTATTTTTGTCCTTTCCCTGTATGCTGGTGAAGAAGATTACAAAGGCTACTTAACGATGGGCTCAGTGGCTCACGCCTGTAATCCCAGCACTTCAGCAGGCCAAGGCTGGTGGATCGCCTGAGCTCAGGAGTTTGAGACCAGCCTGGCCAACATGGTGAAACCCTGTCTCTGCCAAAGATACAAAAATTAGCCTGGTGTGGTGGTGCACACCTGTGGTCCCAACCACTCAGGAGGCTGAGGTGGGAGAATCACTTGAGCCTGGGAGGCAGAGGTTGCAGTGAGCCGAGGAAAGGCCACTGCACTCCAACCTGGGTAACAGTGAGACCCCTGTCTCACAACAAACCAACAAAGAAACCCAAAGGCTACTTAAGAGGGAAGAAAAAAGGAGATAGAGAAGGGGTGAGGATATATGTGGCTCCAATTCTGTACTCGCCTTTGTGGTATTTTAAAGCTATGTACAACTCCTTGCTCCTATAAGATAGTAGAAGAAAAAAAAGATAATACTATGTGAACAATAAGAATAAAATAAATAGTACATTATTTTAATTATTATGCTTTTAAATAAAGCACATAATTTGGGGTATGATAACTACATGCAAATGATGTTGATGTAAAACATTTTAAAAAAACTCAGAGTACAAAACAGTATTTTCTTATGGTTGAGATTTTTAAAAAACCATCCTTTACATAAAAATTGCTTAGAGAAGAATGTTTAAATAAAATAAGGTTTTCTTTGGATTCAGCTTTTTAAATTAAAATCATGTAAACATGACAGCCGTTTCAGTTTTTCAGATGACCTTTGTTCATCTGTAGCATGTTTCTCTAGAAGCTTTAGGGACATTTCTCTAAGCA
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Task1_train_13630
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This variant impacts the gene ZMYND11 (zinc finger MYND-type containing 11) on Chromosome 10. Is the change likely to result in a pathogenic outcome?
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Pathogenic; not provided
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CTGCCTTTACTCATGCAGGTTCCTTCCTGTTGAAATCCTCTAAGATTTGTCACAGACAGGGACACCTGAGATGTTATTTTAAAATTATTTATAAACCAATTCCTAGCCCCAATTCAGAACTATAAATATATCTTAGTAGTTATGGTAAACTGTCACAGAGGCTAACAGTTCTGTTTTCAATCTCGATCCTCCTGTGTTGTAAAGAATGACAGGTGTGTGCTTAGGGTCTCACCGCCCACACTGGCCCAAGCATTCGTGCACTACCAAGCTTAGCAGCAGCTTTCTACATTATTGTCAAATGAGATGTTCAAGCCATTAAAGTTCACTCTGATAAATTAATGTAGTGTCTTTGTGGCTGCGGGATATCTGACCTGCCATGCTTCATTATACTATATTATTAAAACCGCAGGTGGCGTTGTTGGCTTCTTTTACACACATTCTCTGTCAATACTGTGGGATGGCAGTAGTCATCCTGATGTCATCCTAGAAAAGACTGCTTGTCCTGTGAACTTAGTCCAGACAAGTATTTTTACTGGTAACTCTTTTCGTCATTCTGTTTTTTGCCCTCTGCAGAAAGTGAATGAAGGGAAATACCGAAGTTATGAAGAGTTCAAAGCTGATGCCCAATTGCTTCTCCACAATACCGTGATTTTCTATGGAGGTTGAATATTTTTGTTTTTTTTGTATGCATTTTTAAACACACCATTTACATTCCATGTTGAACACTATCTTTTATAAAACATTACTTTCAAAGAATTAATACCTTAATGATCTACAAGTTTAGAGTATAAGGTTAGGAATATCTGGTGATATAGATTATAGAATGGACTGGCCAAAAACAAAATCATAGTATACTAAATGATGAAAACACAATTACTCTTTACAGTTTTATATGTATTTGTTTTAGCTGAGAGGTTTTTAATAAGCACTATGATTAATTCTGATCATTTCCCCACTAGTACCACATCATCCAAAGGTAAGGTCATTCTCTATACCCTGAGAATTAGTGGTTGTATTGGATGGAAAACAAAAGCTGCCTGTGTAATTTTATTTTGCTATCGTTATTTTAAATGGACATTTTGGTTTGAAATGGTAGATGTCTACTTTTGCAAACTGAAAGAAAAGGATAGTAACTTTGAGTCTTGTATTTGCAGACTATTGCTTATAGGTAATATCTATTTTTAATTACAGCAGACAGTGAGCAAGCTGACATTGCGAGGATGCTATATAAAGACACATGTCATGAGGTACTATTCATTGCCCAATAGTTATACTCTTTCTATAACTGAAATTAATTTATTTCAGGATTCCACTCTTATCTACATTTTAGTTGTGCCATTTCCTTTAAATGTCTTTTATTGCCGGGCGTGGGGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCAAGTTGGGCGGATCACGAGATCAAGAGATCGAGACCATCCTGGCCAACATGGTGAAACCCTGTCTCTACTAAAAATACAAAAATTAGCTGGGTGTGGTGGTGTACGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATCGCTTGAACGTGGAAGGTGGAGGTTGCAGTGAGCCAAGATTGCGCCACTGCACCCCAGCCTGGTGACAAAATGAGATTCTGTCTCAAAACAAAACAAAAAAAGGTCTTTTATTTTCATGTTTGACATACATGAGGCAAAGGTAAGGACTGCTGTGATTGGCAGCAGATATTGTTACCTTCCTGAGGAATATTCAGTCTGAAGTGCTAACCAGTGAGGTCCGGGCAGGGCCCAGTCAGACCAGCCTCAGCTTCTGTTCCAACTGTGGCCTGAGACCAGCGACATGGTTCTAAGAGGACAGTGACAGGGTCTTCCAGTACCATTTATTGAAAACTTTAAAATTTAGGCTTAAAAGATTAAGAAACAAAATTCAACACTATTTATATACGTGAATGTTAATTTACATGGATACATTTTATATAGTTTAATGTGTATGTATATTTTATGTAGGCTAAAGTAGTTTCTTTTCTTTTTCAGCTGGATGAACTGCAGCTTTGCAAGAATTGCTTTTACTTGTCAAATGCTCGTCCTGACAACTGGTTCTGTTATCCTTGTGTATGTGAAATTTTTACCTCAAGTGTGTAACATACAGCTCTAAGGAAGTTTATTTCCAGTTTGGTTAAAGATTATAATTTTCTTCCTAAATTTTTAAAATATCATAGTATATATGGGTTTAATGAGTATAAACAACTGAAAAAAAGTAACAGGGCTTGTTATCCATTTCTGATTTTAAAATGAGATACTGAATAAAAATAAATATTGGGTCCTTTTTCTTTTTGAGACAGGGTCTCACTCTGTCGCCCAGGCTTGAGTGCAGTGGTGTGATCTCAGCTCACCGTAGCCTTGACCTCCTCCAGGCTCAAGTGATTCTCCCACCTCAGCCTCCAGAGTAGCTGGGACCACAGGCACACGCCACCACACCTGGCTAATTTTTGTATTTTTTGTAGAGATGGGGTTTTACCATGTTGCTCAGGCTGGTCTCAAACTCCTGAGTTCAAGCAGTCCTCCCGCCTCGGCCTTCCAAAGTGCTGGGATTACAGGCATGAGCCACCACACCCAGCGTCTGGGTCCCTTAATAAAGTGAATTTTTGTTTCTCCTTTCATCCTTTCACAAGAGACCTAAGGCTTTGCCTTTGTCTGTAGCTGTATAATTTCCCCAAAATAATACAGCTTCAAACCGTGCACTGACAAAGGGAATTCTGAGCATTCTTGGCCGGCAGCCTTGGCTGCCTGAGAGAAGCCAGCCCTGTGAAGACAGTACTGTGCCAGCCTAAAATTTCCCCATTTCTAACAAATTCCCAGGGGTGCTGGAGCTGCTGGCTCCCCAGCTGCACTTGGCCAAGCGGGTGCTCTTGTTTGCCACCGTCATACATGTGGATGGCCTTGCTCCAGTCCCGACCTCTTCTGAGGAATAAGGTTCATGTTGGCACTCTGATGCAAATATAAAATCAGTCAATCCCAGAAAAAAAATCTCGTATGTGTTTAGGAGTTATGAAAGAAATATTTTAGAAATAATGGATTATATGTGACTAGTTTAATATTAATGGTACACTTGCATTTAATACTTTAAAAGTAATATAACAAGGTAAAACATTTAATTTCCAGATACCTAATCATGAGCTGGTTTGGGCTAAAATGAAAGGTTTTGGGTTTTGGCCAGCCAAAGTCATGCAGAAAGAAGACAATCAAGTCGACGTTCGCTTCTTTGGCCACCACCACCAGAGGTAATTTGTGATCCCATGTTCAGCGGTCACAGCTGTGCTTATGAAGTCCTTAAGAAAGTTTGATGATTTCTCCATCAGAGATGCATGAAGTTTATTTTAAATTGGAAAAAAAAAACACATTATGCATCCAAGAATACGTTCCAAGATAAATTGTTTCCAGATATTTTTCAGATATTGTGTACTAAACAGGAATTTTTAATAACTGACACTGTTGAACTTCAGAAGCACATTACGGTTAAGACTGAATTTATAGTACAGTGGGCAGAAGGGCCTCAGAATGTGTCCATTCCATAATATGGTAATGGAATTACCATTACCATATTCACAGTTACTCTAGTTGCTCCAGCCATCTTCAAGGCTCAGTTAAAGACATATAGACTAAAATCGTCAATCTTGTGATCTTACAATGTGTGTAAATACCTGAAGCGTGCGTGGAAATAAGCCATAATAGGAATAAAGAATTCACATGCAATTTATTTGGTTCATTTAACACAGATATTGAGATAAGGTGAAAAAGTGACAGAAACCAGCTACATGATCTAAAAGTCATACTTTGTAAGGATTTAAATGAACAGTCCATGAGGTGTCTCCTGTCATGCCAGGAGGTTATTAGTGCATAGAGAAGCTACACAATGAGGGACCTTACTCCTCCCTGTGGTAAATTTTTACTTAGTCTTCATTAATTTAATTTAAACAGAAGTGTAGTTATAAGAAACCTATAAATACTGTAAATTTCCCAGAAGGTAGTTCTGTTCTTTCATAGGTAGATACACACTTACCTGACACTGTCATGTCAAGAAACATTAAATAATGATCCAATA
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CTGCCTTTACTCATGCAGGTTCCTTCCTGTTGAAATCCTCTAAGATTTGTCACAGACAGGGACACCTGAGATGTTATTTTAAAATTATTTATAAACCAATTCCTAGCCCCAATTCAGAACTATAAATATATCTTAGTAGTTATGGTAAACTGTCACAGAGGCTAACAGTTCTGTTTTCAATCTCGATCCTCCTGTGTTGTAAAGAATGACAGGTGTGTGCTTAGGGTCTCACCGCCCACACTGGCCCAAGCATTCGTGCACTACCAAGCTTAGCAGCAGCTTTCTACATTATTGTCAAATGAGATGTTCAAGCCATTAAAGTTCACTCTGATAAATTAATGTAGTGTCTTTGTGGCTGCGGGATATCTGACCTGCCATGCTTCATTATACTATATTATTAAAACCGCAGGTGGCGTTGTTGGCTTCTTTTACACACATTCTCTGTCAATACTGTGGGATGGCAGTAGTCATCCTGATGTCATCCTAGAAAAGACTGCTTGTCCTGTGAACTTAGTCCAGACAAGTATTTTTACTGGTAACTCTTTTCGTCATTCTGTTTTTTGCCCTCTGCAGAAAGTGAATGAAGGGAAATACCGAAGTTATGAAGAGTTCAAAGCTGATGCCCAATTGCTTCTCCACAATACCGTGATTTTCTATGGAGGTTGAATATTTTTGTTTTTTTTGTATGCATTTTTAAACACACCATTTACATTCCATGTTGAACACTATCTTTTATAAAACATTACTTTCAAAGAATTAATACCTTAATGATCTACAAGTTTAGAGTATAAGGTTAGGAATATCTGGTGATATAGATTATAGAATGGACTGGCCAAAAACAAAATCATAGTATACTAAATGATGAAAACACAATTACTCTTTACAGTTTTATATGTATTTGTTTTAGCTGAGAGGTTTTTAATAAGCACTATGATTAATTCTGATCATTTCCCCACTAGTACCACATCATCCAAAGGTAAGGTCATTCTCTATACCCTGAGAATTAGTGGTTGTATTGGATGGAAAACAAAAGCTGCCTGTGTAATTTTATTTTGCTATCGTTATTTTAAATGGACATTTTGGTTTGAAATGGTAGATGTCTACTTTTGCAAACTGAAAGAAAAGGATAGTAACTTTGAGTCTTGTATTTGCAGACTATTGCTTATAGGTAATATCTATTTTTAATTACAGCAGACAGTGAGCAAGCTGACATTGCGAGGATGCTATATAAAGACACATGTCATGAGGTACTATTCATTGCCCAATAGTTATACTCTTTCTATAACTGAAATTAATTTATTTCAGGATTCCACTCTTATCTACATTTTAGTTGTGCCATTTCCTTTAAATGTCTTTTATTGCCGGGCGTGGGGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCAAGTTGGGCGGATCACGAGATCAAGAGATCGAGACCATCCTGGCCAACATGGTGAAACCCTGTCTCTACTAAAAATACAAAAATTAGCTGGGTGTGGTGGTGTACGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATCGCTTGAACGTGGAAGGTGGAGGTTGCAGTGAGCCAAGATTGCGCCACTGCACCCCAGCCTGGTGACAAAATGAGATTCTGTCTCAAAACAAAACAAAAAAAGGTCTTTTATTTTCATGTTTGACATACATGAGGCAAAGGTAAGGACTGCTGTGATTGGCAGCAGATATTGTTACCTTCCTGAGGAATATTCAGTCTGAAGTGCTAACCAGTGAGGTCCGGGCAGGGCCCAGTCAGACCAGCCTCAGCTTCTGTTCCAACTGTGGCCTGAGACCAGCGACATGGTTCTAAGAGGACAGTGACAGGGTCTTCCAGTACCATTTATTGAAAACTTTAAAATTTAGGCTTAAAAGATTAAGAAACAAAATTCAACACTATTTATATACGTGAATGTTAATTTACATGGATACATTTTATATAGTTTAATGTGTATGTATATTTTATGTAGGCTAAAGTAGTTTCTTTTCTTTTTCAGCTGGATGAACTGCAGCTTTGGAAGAATTGCTTTTACTTGTCAAATGCTCGTCCTGACAACTGGTTCTGTTATCCTTGTGTATGTGAAATTTTTACCTCAAGTGTGTAACATACAGCTCTAAGGAAGTTTATTTCCAGTTTGGTTAAAGATTATAATTTTCTTCCTAAATTTTTAAAATATCATAGTATATATGGGTTTAATGAGTATAAACAACTGAAAAAAAGTAACAGGGCTTGTTATCCATTTCTGATTTTAAAATGAGATACTGAATAAAAATAAATATTGGGTCCTTTTTCTTTTTGAGACAGGGTCTCACTCTGTCGCCCAGGCTTGAGTGCAGTGGTGTGATCTCAGCTCACCGTAGCCTTGACCTCCTCCAGGCTCAAGTGATTCTCCCACCTCAGCCTCCAGAGTAGCTGGGACCACAGGCACACGCCACCACACCTGGCTAATTTTTGTATTTTTTGTAGAGATGGGGTTTTACCATGTTGCTCAGGCTGGTCTCAAACTCCTGAGTTCAAGCAGTCCTCCCGCCTCGGCCTTCCAAAGTGCTGGGATTACAGGCATGAGCCACCACACCCAGCGTCTGGGTCCCTTAATAAAGTGAATTTTTGTTTCTCCTTTCATCCTTTCACAAGAGACCTAAGGCTTTGCCTTTGTCTGTAGCTGTATAATTTCCCCAAAATAATACAGCTTCAAACCGTGCACTGACAAAGGGAATTCTGAGCATTCTTGGCCGGCAGCCTTGGCTGCCTGAGAGAAGCCAGCCCTGTGAAGACAGTACTGTGCCAGCCTAAAATTTCCCCATTTCTAACAAATTCCCAGGGGTGCTGGAGCTGCTGGCTCCCCAGCTGCACTTGGCCAAGCGGGTGCTCTTGTTTGCCACCGTCATACATGTGGATGGCCTTGCTCCAGTCCCGACCTCTTCTGAGGAATAAGGTTCATGTTGGCACTCTGATGCAAATATAAAATCAGTCAATCCCAGAAAAAAAATCTCGTATGTGTTTAGGAGTTATGAAAGAAATATTTTAGAAATAATGGATTATATGTGACTAGTTTAATATTAATGGTACACTTGCATTTAATACTTTAAAAGTAATATAACAAGGTAAAACATTTAATTTCCAGATACCTAATCATGAGCTGGTTTGGGCTAAAATGAAAGGTTTTGGGTTTTGGCCAGCCAAAGTCATGCAGAAAGAAGACAATCAAGTCGACGTTCGCTTCTTTGGCCACCACCACCAGAGGTAATTTGTGATCCCATGTTCAGCGGTCACAGCTGTGCTTATGAAGTCCTTAAGAAAGTTTGATGATTTCTCCATCAGAGATGCATGAAGTTTATTTTAAATTGGAAAAAAAAAACACATTATGCATCCAAGAATACGTTCCAAGATAAATTGTTTCCAGATATTTTTCAGATATTGTGTACTAAACAGGAATTTTTAATAACTGACACTGTTGAACTTCAGAAGCACATTACGGTTAAGACTGAATTTATAGTACAGTGGGCAGAAGGGCCTCAGAATGTGTCCATTCCATAATATGGTAATGGAATTACCATTACCATATTCACAGTTACTCTAGTTGCTCCAGCCATCTTCAAGGCTCAGTTAAAGACATATAGACTAAAATCGTCAATCTTGTGATCTTACAATGTGTGTAAATACCTGAAGCGTGCGTGGAAATAAGCCATAATAGGAATAAAGAATTCACATGCAATTTATTTGGTTCATTTAACACAGATATTGAGATAAGGTGAAAAAGTGACAGAAACCAGCTACATGATCTAAAAGTCATACTTTGTAAGGATTTAAATGAACAGTCCATGAGGTGTCTCCTGTCATGCCAGGAGGTTATTAGTGCATAGAGAAGCTACACAATGAGGGACCTTACTCCTCCCTGTGGTAAATTTTTACTTAGTCTTCATTAATTTAATTTAAACAGAAGTGTAGTTATAAGAAACCTATAAATACTGTAAATTTCCCAGAAGGTAGTTCTGTTCTTTCATAGGTAGATACACACTTACCTGACACTGTCATGTCAAGAAACATTAAATAATGATCCAATA
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Task1_train_13631
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This sequence change occurs on Chromosome 10, altering PITRM1 (pitrilysin metallopeptidase 1). What is the medical significance of this variant — is it benign or linked to a disease?
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Pathogenic; Spinocerebellar ataxia, autosomal recessive 30
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GCCACGTTTACTCACCATTCCATATCTGCCATGTGTCAGTTTCCATCCACAGCAGCAGGCCGGGACCCTGGGCCTCGACCCCAGGCTCCTGCTCTCCTTTGAAAGTAAAACATGAATCTTAGTTACTTGTCCTCTTGATTGCAATCCTAGCTGCATGTTAAAACCACCAAGGGGTGGGTGGGGCGGAGGTGGGTTCAAAAATCTGATAGCCAGCTTCTCCTCCAGGCCAAGCCACAGTCCTCGCTGGGACCTAGGTTGGAACTCTCCGGAAGACTCCTGCCAGAGTAGACACGGCTGCTGGGATGACAGCCCTGCTGCCCTGGTGGGCCCCCCTCCTGTAGGGACAGCGTTTCTGCCTCTTAGCTCTAGTCTGCAAGAGAGAACAGCTGCGCCTCAGAAATGGGGGCAGAGAGCTGGGTGGAGGGAGAGGAGAGGCCAAAAACAAACTCTGTTTGGGAAATCAGAGTCCGACAGCCAAGAAAGAGCTAGCGCGGAGGCTTTCCTTTCTGGCTCTGTAACGATGAAGCAAGCGCTTACTCACCCCAACCCACTTGCTTCTCAGGACGGTTTCCATGCAGCCGCCGCGGTGAACTCCCGTCTGGTGGACACTCCCCCAGGGCCTCGGTGTGATGGAGTTTCCTGAATCAGCGCAGGCAGACGTGGGACACCCTTGTGCACCTTTTCATTTTACTTCTGTTTTTAAATAAAGGCCCTAAATGCTGCTTAAAATAATGACTCAAGCAGAGGTTAAGTCAGAGTTGCCCTTTATTTTTAGATTCTTAAATATTCTAGAATGAGGTAAAACGAGCCTGCCAGTACAAAGTGAAAATTCTACATGGTGCATCTTTGGCGCTTCATGCATGATTATTTCAATGAACCTCTTCCTGGTCACTCTTAAGATAGATCTGAGTTTTTGACTCGCCAGTCAAGGGCTTTGGCGACACTCAATGACATAATATTCTTGGAAAAAGCAGTAGCATTTCTGACTTTTCATATTCAGCTCGGAGGTGTATTGTCTCGGGCTCCTGTGCAGTCGAGCGCCACGGCTGCTCATTGGATGATCCAGGATGGGTCCTTGGCAATTTTCGGGTTCTCGGGTCCGAGGATGGCCAGGCCGTGTGTGCTCTTCCCAGTGCCGAGGTATCTGAGAGGAAGGCAGGCGTGGTCAGCAAGGACTGGCTTCTGCGTGAGCGCTGTTAGAGTCAGCACGAGGGCTTCCAGTCCCAGACGCTGTCTCCCCCGCTCCCCACTCACCTATCGCTCACGGCCAGGAGCTTGTCGTGGCTGACAGCAAAGAGCTGCTCTCTGTGGGCCTGCTTCATCTCATCCGAGAGGCCGTACAAGAAGTGGTCCATTCCTAGAAGACAATCCACAGGCACGATGGAGCCGCTGCCCGGGAGCTCGCGTTGTGGGCTGTGCACTCATGTCCCGGAGGGGACACAGGCATCTCACTGTCATTTCACGTGCATGTTTCAACCACAGGGATGTGTCTAACAACCCAGAGATCACACCCCGACCTCCAGCTCCCACGTGCCACGCTGACCCCTACCCACGCCTGCTTCTGCAGCAGGGATGCAGTCAGCGCCGCGTGAGGCTGATGATGCTGTGAGCAAAAGCGGCTCCAGAGAGTAACGTGGCCATGCCCGGGCCGTGCCCACGTCCTCCTTCCACCCTAAAGAGCCCGGACACTGCCATGGGTTGGCCCCACTGGGTCTCAGGTCAGTAAAACAAATGACAGGATGCACTCTTCTCGCCCGGATGTCAGGAAGCGTGTTTAGGGTGTCAGACGTGGAAATCGTATCACAAGCAAGGATGGAGGCACCAGAAGCTAGTGCTCCTGCCCATGCATGCCGGGAACTTGGAAAACAGCAACGTCATCTGTGAGGCTGTGGGTTGAGATTCTCACTGTTATACTCAAAATACCTTTGTCTGAAGGAGCGACAGGAGCATCTACGGTTGAGAAGACAGAAAGTTTGGCTTCGTCGATGTCTTGCTGTGTGAATTTTCCAGACTTAGCCCAGTCGACAGCCTTCCCAAAAGACTGGAGCGTCTCTATTGTATTTGGGTCCCTAGGAAACCCAGAGAAATAAACGGGCAAGCATTTTACCAGTGGACAAGTTTATGACAAACCTCTGTCGACTTAACAGTTCAACATCTTCTATGGGTTAACAGCTCTATTTTATATCTGATTTAGTCCAAACAGCCCACTGACAAATCGCTCAATTACTCTCAATGGAAATTTAAATCTGATCACATAAGCCTTTCAACATGTTCTCCCTCTTAGACAAGGTCTGTCTGCACAAAGTCCTCCCTAGATTATTTAAATACACTTCTCTGTGACCTCATCAGGAGAGGAAAGTCAGTGGAGGGTAGGGGCAGGTCAGGATTACAGGGAAATTACAAAGACTTACATGGAAAAATTAAGCAAACAAAGGTTTTCCTTTCATCTCCCTGAAGACACACCCAGGGTAGTACAGGAATCAGCCTGAGGGGGCCAATCCAGACTTCCCTTCGTGTAAATGCAAAGAGCCCAGCCCTCCCTTCACCCTGAGCTGCAGAGGGGCGGCTGTGAGCTGCTTCCCCATCCTTGTCTAGAAGCATGGCTTCCAGCACAGCAAGGGGGAGAACTCATCAGAGTGGCAATGGCTACCTACGTATCTACCTACATGCCTGCCTACCTACCTAATCTAGCTATGCATCCACGGGACAGGGTCTCACTGTCGCCCAGGCTGGTGTGCAGTGGCGCAATCTGCTCACTGCAGTTTCAACCTCCCCAGGCTCAAGGGATCCTCCCGCCTTAGCCTCCTGTAGCTAGGACCACAGGCACTTGCCACTGCGGCCGGCTGGCTCCTTCTTAAAAACTGTTGGAATACATGTTCTCTTAGGCAGCAAAGCCATAGAAAATCAAGAATATTGCTTTACAGTAACGGTGTTATGTTTATGAAAGCTAACAGAACTGCATCCACATCAGGCACCTCCAACTGAAATGAGCTAAGAACGCTCTCAGGCTGTATCAGCCCCCTCACCTGGGGCCTGTGTTTCAGGACCCCCACGGCAGGGCTGCAACCTCAGACAGCCACTATGGATACTATGTTTTTTTCCTATACCTATGATAAAGTTTATAGATTAGGTGCAGCAAGATATTAACAAAATACAACAATTATACTGTAATAAAAGTTACGCTGATGGGCTACTATTAAGTAAAACAAGGGTTCTGTGAACAGAAGCTCTTGGATACCCACAGCGTATCTGATACCTAGACGGCTACTGGGTGACCAACAGGCAGGTACCGTAGACAGCGTCAGCTTTCATCCCACTGCTTAGAAGAATGGTGTACAATTTAAAACTTAGGAAGTGTTTATGTCTGGAATTTTCCATTTAATATTTTCAGACCGAGGGGGACTGTGGGTAATAAACCATGGAAGGCAAACCCACGGATGGAGGCACTACCGTGTTCTGCCAAAATATGCTGGCTGAAGCCAGGGTTTACTGAAGGCAGAATGCTTCCTGTTTCGGCTGCTGGCCCTAATCCTCGCGCCAGAAAGGACATTGCTGGGTGTGGCTAAGTGCCCAAGGAGTGAAAAGAAGCACACAGAACAACTTTTGTCTAAAATTCACTGCAGTAGAAGAAAATGACACTGATAATCATGAGTAGAAGACTAAAACGACGTGTGCATCCCAATGTGTGAACTAGAGCAAAACTCACCTGTAAGAGTAAAGGGTGAAAATCCCATTGTGGCTGAGTTTTGCGCCTCCACCATAAGCACCGCCTTTTTCTCGAATTTCTGTATGCAAGAATTTGGCAGTCATCAAACGTGCAAGGATTTTAAGACTGAAATGATTAAAAAATGCAAGTTAATACCGTGGCTGATAAAAAAGCATAGACAATGAAGTAATTGTTGGATTAAGTGAAAATGAAAATCGAGTTGTAAAATAATGCTGCATAAATTATGGTCCCATATTTTGGTCTTGTTTTTTAAGAGATGGGGTCTCGCTCTGTCGCCAGGCTGGAGTGCATTAGTGCAATCACAGCTCACTGCAGCTTTGAACTCCTGGGCTCAAGGGATCCTCCCACAACAGCCTCCTGAGTAGCTGG
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GCCACGTTTACTCACCATTCCATATCTGCCATGTGTCAGTTTCCATCCACAGCAGCAGGCCGGGACCCTGGGCCTCGACCCCAGGCTCCTGCTCTCCTTTGAAAGTAAAACATGAATCTTAGTTACTTGTCCTCTTGATTGCAATCCTAGCTGCATGTTAAAACCACCAAGGGGTGGGTGGGGCGGAGGTGGGTTCAAAAATCTGATAGCCAGCTTCTCCTCCAGGCCAAGCCACAGTCCTCGCTGGGACCTAGGTTGGAACTCTCCGGAAGACTCCTGCCAGAGTAGACACGGCTGCTGGGATGACAGCCCTGCTGCCCTGGTGGGCCCCCCTCCTGTAGGGACAGCGTTTCTGCCTCTTAGCTCTAGTCTGCAAGAGAGAACAGCTGCGCCTCAGAAATGGGGGCAGAGAGCTGGGTGGAGGGAGAGGAGAGGCCAAAAACAAACTCTGTTTGGGAAATCAGAGTCCGACAGCCAAGAAAGAGCTAGCGCGGAGGCTTTCCTTTCTGGCTCTGTAACGATGAAGCAAGCGCTTACTCACCCCAACCCACTTGCTTCTCAGGACGGTTTCCATGCAGCCGCCGCGGTGAACTCCCGTCTGGTGGACACTCCCCCAGGGCCTCGGTGTGATGGAGTTTCCTGAATCAGCGCAGGCAGACGTGGGACACCCTTGTGCACCTTTTCATTTTACTTCTGTTTTTAAATAAAGGCCCTAAATGCTGCTTAAAATAATGACTCAAGCAGAGGTTAAGTCAGAGTTGCCCTTTATTTTTAGATTCTTAAATATTCTAGAATGAGGTAAAACGAGCCTGCCAGTACAAAGTGAAAATTCTACATGGTGCATCTTTGGCGCTTCATGCATGATTATTTCAATGAACCTCTTCCTGGTCACTCTTAAGATAGATCTGAGTTTTTGACTCGCCAGTCAAGGGCTTTGGCGACACTCAATGACATAATATTCTTGGAAAAAGCAGTAGCATTTCTGACTTTTCATATTCAGCTCGGAGGTGTATTGTCTCGGGCTCCTGTGCAGTCGAGCGCCACGGCTGCTCATTGGATGATCCAGGATGGGTCCTTGGCAATTTTCGGGTTCTCGGGTCCGAGGATGGCCAGGCCGTGTGTGCTCTTCCCAGTGCCGAGGTATCTGAGAGGAAGGCAGGCGTGGTCAGCAAGGACTGGCTTCTGCGTGAGCGCTGTTAGAGTCAGCACGAGGGCTTCCAGTCCCAGACGCTGTCTCCCCCGCTCCCCACTCACCTATCGCTCACGGCCAGGAGCTTGTCGTGGCTGACAGCAAAGAGCTGCTCTCTGTGGGCCTGCTTCATCTCATCCGAGAGGCCGTACAAGAAGTGGTCCATTCCTAGAAGACAATCCACAGGCACGATGGAGCCGCTGCCCGGGAGCTCGCGTTGTGGGCTGTGCACTCATGTCCCGGAGGGGACACAGGCATCTCACTGTCATTTCACGTGCATGTTTCAACCACAGGGATGTGTCTAACAACCCAGAGATCACACCCCGACCTCCAGCTCCCACGTGCCACGCTGACCCCTACCCACGCCTGCTTCTGCAGCAGGGATGCAGTCAGCGCCGCGTGAGGCTGATGATGCTGTGAGCAAAAGCGGCTCCAGAGAGTAACGTGGCCATGCCCGGGCCGTGCCCACGTCCTCCTTCCACCCTAAAGAGCCCGGACACTGCCATGGGTTGGCCCCACTGGGTCTCAGGTCAGTAAAACAAATGACAGGATGCACTCTTCTCGCCCGGATGTCAGGAAGCGTGTTTAGGGTGTCAGACGTGGAAATCGTATCACAAGCAAGGATGGAGGCACCAGAAGCTAGTGCTCCTGCCCATGCATGCCGGGAACTTGGAAAACAGCAACGTCATCTGTGAGGCTGTGGGTTGAGATTCTCACTGTTATACTCAAAATACCTTTGTCTGAAGGAGCGACAGGAGCATCTACGGTTGAGAAGACAGAAAGTTTGGCTTCGTCGATGTCTTGCTGTGTGAATTTTCCAGACTTAGCCCAGTCGACAGCCTTCCCAAAAGACTGGAGCATCTCTATTGTATTTGGGTCCCTAGGAAACCCAGAGAAATAAACGGGCAAGCATTTTACCAGTGGACAAGTTTATGACAAACCTCTGTCGACTTAACAGTTCAACATCTTCTATGGGTTAACAGCTCTATTTTATATCTGATTTAGTCCAAACAGCCCACTGACAAATCGCTCAATTACTCTCAATGGAAATTTAAATCTGATCACATAAGCCTTTCAACATGTTCTCCCTCTTAGACAAGGTCTGTCTGCACAAAGTCCTCCCTAGATTATTTAAATACACTTCTCTGTGACCTCATCAGGAGAGGAAAGTCAGTGGAGGGTAGGGGCAGGTCAGGATTACAGGGAAATTACAAAGACTTACATGGAAAAATTAAGCAAACAAAGGTTTTCCTTTCATCTCCCTGAAGACACACCCAGGGTAGTACAGGAATCAGCCTGAGGGGGCCAATCCAGACTTCCCTTCGTGTAAATGCAAAGAGCCCAGCCCTCCCTTCACCCTGAGCTGCAGAGGGGCGGCTGTGAGCTGCTTCCCCATCCTTGTCTAGAAGCATGGCTTCCAGCACAGCAAGGGGGAGAACTCATCAGAGTGGCAATGGCTACCTACGTATCTACCTACATGCCTGCCTACCTACCTAATCTAGCTATGCATCCACGGGACAGGGTCTCACTGTCGCCCAGGCTGGTGTGCAGTGGCGCAATCTGCTCACTGCAGTTTCAACCTCCCCAGGCTCAAGGGATCCTCCCGCCTTAGCCTCCTGTAGCTAGGACCACAGGCACTTGCCACTGCGGCCGGCTGGCTCCTTCTTAAAAACTGTTGGAATACATGTTCTCTTAGGCAGCAAAGCCATAGAAAATCAAGAATATTGCTTTACAGTAACGGTGTTATGTTTATGAAAGCTAACAGAACTGCATCCACATCAGGCACCTCCAACTGAAATGAGCTAAGAACGCTCTCAGGCTGTATCAGCCCCCTCACCTGGGGCCTGTGTTTCAGGACCCCCACGGCAGGGCTGCAACCTCAGACAGCCACTATGGATACTATGTTTTTTTCCTATACCTATGATAAAGTTTATAGATTAGGTGCAGCAAGATATTAACAAAATACAACAATTATACTGTAATAAAAGTTACGCTGATGGGCTACTATTAAGTAAAACAAGGGTTCTGTGAACAGAAGCTCTTGGATACCCACAGCGTATCTGATACCTAGACGGCTACTGGGTGACCAACAGGCAGGTACCGTAGACAGCGTCAGCTTTCATCCCACTGCTTAGAAGAATGGTGTACAATTTAAAACTTAGGAAGTGTTTATGTCTGGAATTTTCCATTTAATATTTTCAGACCGAGGGGGACTGTGGGTAATAAACCATGGAAGGCAAACCCACGGATGGAGGCACTACCGTGTTCTGCCAAAATATGCTGGCTGAAGCCAGGGTTTACTGAAGGCAGAATGCTTCCTGTTTCGGCTGCTGGCCCTAATCCTCGCGCCAGAAAGGACATTGCTGGGTGTGGCTAAGTGCCCAAGGAGTGAAAAGAAGCACACAGAACAACTTTTGTCTAAAATTCACTGCAGTAGAAGAAAATGACACTGATAATCATGAGTAGAAGACTAAAACGACGTGTGCATCCCAATGTGTGAACTAGAGCAAAACTCACCTGTAAGAGTAAAGGGTGAAAATCCCATTGTGGCTGAGTTTTGCGCCTCCACCATAAGCACCGCCTTTTTCTCGAATTTCTGTATGCAAGAATTTGGCAGTCATCAAACGTGCAAGGATTTTAAGACTGAAATGATTAAAAAATGCAAGTTAATACCGTGGCTGATAAAAAAGCATAGACAATGAAGTAATTGTTGGATTAAGTGAAAATGAAAATCGAGTTGTAAAATAATGCTGCATAAATTATGGTCCCATATTTTGGTCTTGTTTTTTAAGAGATGGGGTCTCGCTCTGTCGCCAGGCTGGAGTGCATTAGTGCAATCACAGCTCACTGCAGCTTTGAACTCCTGGGCTCAAGGGATCCTCCCACAACAGCCTCCTGAGTAGCTGG
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Task1_train_13632
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Assess the clinical impact of this variant on gene PITRM1 (pitrilysin metallopeptidase 1), found on Chromosome 10. State whether it’s pathogenic or benign, and the disease if applicable.
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Pathogenic; Spinocerebellar ataxia, autosomal recessive 30
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TATTAGTGACATAAGAACAAGCAATGTATCAGAAAGTGAGGATGTAATTAAGGTTCAGTAACTGCATCCACTATTGGAAGAGCACTTCTCCGTGCCAAGGAGAGGGCTTCAAGCTTCACACCCCGTGTCAAGGTGGGCACCATCCATGCACCCCCACTTTCCACGCAACCAAGCTAGATGTGAGGCAACAGGCTGCGGGGCCAGGACCCTCCTCTGGGGGACTCTAAACGCTGTGTTTGTAACCACCATGCTGAGCCTCCTGAGGGCTATCATTGTAAATGTCCAAAATCAATGTCCAAGTAAGATAGGCAAACTTAGGCCAAGAATCTTACCTAGACTTAGATATTTCTTAAGCATTGCTAAATGTGAGAGAAGCCATGCCATAAACTGTTAAGAACACAAACAAGTCAACTTTTCACAATCCACCATCAAACTTTTCCAACAAAATATTACCTAGCATTGCTTGGGTGATAGTGAGTGGCATGAAACTGCTTAAGCTGCTCCCATGTAAGCTCCGGGATGCACAGTGGGTCACCCCCGGAGACCACTGAGTACGTGTGGTCAGGAAGAAGTCTGTTCTGAAGGTGCTGGGAGAATATCCTCTCATTGTCTGTCTTGAAACGTAAAATAAATAAATCATAAGTATACATGTAAAATAATACACACGTTACATTACTTACAATATAGCCAATTGATCACATTCTGGTGCATACACCTGTAATACTTTGCAAATAAAGCTGTTCTAATGGTTTAAAAAAAAAAAAAAAACACCCACGCAGGCATTGTTTAACACGGTATTCAATCATTCATCACCCACGCACAGGACCCAAGGATTGAGAAGAACAATGGATTTTTTGATGTGTGGTGCAACAAACGCATAGCTGAGGGCTGTAAATCGGGATGGATCAGTCGGTCTGCCCACCAGCCGTGAGGGAAGTGGGGAGAAGCTGTCACCCCAACTTGAGTTCAAGAAGACTCCTTGGAAGAAAAGACCACCAAATTGAGAATGAAAAGGTAAGAAATAGTTCACCAGCCGAGAGGAGCTACGGGAATCAGAGAGCAGGCCACCCATGAGCCTCAGGGACACCAGGACAGACAGGTTGTCCAAGTCACAAAGGGACATGAAGACATGGGCCCAGGACAGCAGCTCTTAATCCAAAATGGTCTCAAGAATCCTTTACACTCTGAAAAATTAACCCATTTATGCCTGAGGTTGCAATTTTTTTGTAAAAAATCAGACCTTGGCGATGACCTTGAGCTGTAGGACATAAATAACTCCCACAAGCTTAGGGTGCCAATAATGGAACACTAGGCATAAATGCGTTTTAATGAGGACCCAAACAGCTTTTGATTATGTGGGCGTTTTTGCCTGTGTAGGTGCCTGTGTGTGTTTATATAATTTTTCTATATTCTAAATTAAAGCTGAGACATTTAAAAAATACTTATTCATTAAGGTAAGCCATCATTACATGTTGATATAAATATTTTTGAAAAATACTTCTCATAACAAAGTAAAAAACTGATTAGAGTGGTGCTGTGTTGCCTTTTTTGCAAATCTCTGTAGCGTCTGGCTCAGAGGTGAAGCTGGACTCCCCCATTTGCTCTGTATGCAGCTCGCTGTGTGTCACACACCTTGCCATGCAGCCTCTAGAAAGTACACCGTGTACTTGGGCAAGAATGAATGAAAAGACACTGTCTTGGTAGTGGTATGAAAATAGCTTTTATCTCACAGACTTGCTGCAGATCACATACCAGGGGTCCCCAGACATGGTCTGAGACCTGCTGGGAAGAACAGCAGCCTGGCCCTGCTACCCCGACTTCTGCTCACAGCACTGACCCCAGCTAATTCAAGAATGTATCACCTATAATGAGAATATTAAATAAAATCTTCCAGATGTGTCTATATCATGATATTGTACATGGGAAAGGTAAGCTGAACACAACATAAAAAAGGAAGAAAACTTACAAACGCTCCCTTCATCTCATTAAAGACGACTCCTTTAAAGACCAAGGGCGTCTGGGGGTCGCTCGGATTCTCATGTTCCAGCCGCCATCCTTCCTGCCTGAGGACAAATCATTATAAGCTGATAGTGACTCAAATACTAAAGTCTGTATCAACTAGTTAATCATTCATGACATACCAGAAATCCAGCTCGCGTAAACATGGGAAAAAGGTGGCATCCAAATACACCGAGAGGAGATTCTGAAAGTCCTTGGGATTTTGTGTGGAAAATGGATACAGAGTATAATCACTAGCTGGGTACAAATGAAAAGTGAAATTGTAAAATATAACAGATTTCTACTAAAATTATTGACTCTCAAGACTCATTCCCCCTTTGTCCTAGGACAGTAAGCTGTAGCTATTCTTGGGATGGGGCAGTGGCCCCATGCTCTGGTCCCTGGCCTCAGCAGCTGTCCCAGCTCATAACCCCAAGTGCCGGCTTTCCCATCCCGTCTCAGGATCTGCACTCGACGGGCACCAGGGCTTTCTTCAGCGAATATCTAAACTCTCTCAAGTTTCTCCAGAGACTTTCATACATCTACAAAGATGACCTCATTCTGTAACAGCATGGATTTAACCCGCTCTTCAATGTCACTCCCCCACAGAATGCACTGTTCATCGTCACCCTATCCACTATCGTCAGTCTTACTAAAAGTCAAACATCAACATTAGTAGTAACTCTGGCATTGTAGCGATATCTCCAAGAGAAAATTGTTTTGAACTTTTCTGGGAAAAGTTCACATATGTTTTCTTAAAACGCTAGTTTTTACAATCTCGCTACCATGTGGCTTTCCTGAAGGATTAAATTTCTAATGTCCTTCAACTAGAGAGAGGTAAAAATTTTTCTAGAACATGAATTGCCCACTCCCCTCATTCCTTCTCAGAAACTAACTGAATTCCAGTGGGTGTGCCTGGCAAACCCAAAAGCAGTTTCTGTTCAGGATGCTGGTCTTACCTGTGAAGGCGTTCATGAACGTGGAGAGGGACCGGTTCAACATTTTGAAGAAAGGGTCTCTGCACGGATATTTCTGAGACCCACAAAGGACGGTATGCTCAAGAATGTGAGGAACACCAGTACTGTCCATGGGAGTAGTACGGAACTGCACGCTAGGGAAGGAGAATGACCAGAACGCAAAAGGTTCAGCTTAGTGCTGCGGACACAGTTCCCAGATGCATCATCACCTCAGGCTACTAGAAATCATCATTCTGACACCACAATCCTCCAGCACAGGGTTTTCCAACTATAATGTAAATCATTGACTCAGACTGTAAAATTGTATTTTGATGAGATTATAAGTCAGTGTAAACTTTTCCTTATTTTTCAAGATGCTCTGTCAATAAAAATACTAGTGAGATGATATTTTAAACCACGTAATGTATAGCCATGTTTTAAATCAAGCTTGTCCAACCCGCAGCCTGCAGCCCGCATGCTCAGGATGGCTTGAAATGCAGCCCAACACAAATTCATACACTTTCTTAAAACATTGAGGGGTCCTTTATTTATTATTTTTAGCTCATCAGCTGTCCTTAGTGTTAGTGTATTTTATGCGTGGCCTAAGACAGTTGTTCTTCTTCCATTGTGGCACAGGGAAGCCAAAAGAATGGACATTCCTGATTTAAATAAAAACATTCAAGACCATGTTCTTACAATGCACCACACACCTGAACAGATTATTCGTGTCTTCTCTGGCCAGGTGTAAATACCTGGCTCCTGTGTCATCATGGGTGAGCTTCACTGCAGTCAGGAACAGCTCGGGAACAGATGTCACCTGAGTTAACAAGAAAAACACGACCAGTTAAACTTAGACAAAATGGCCTTTGAAATGGTTATGTTCGACACACTGAGAAAACTGGCTTTTCTGCCTGAAATTAGATGATGCCGGGAAGGCAGTATTTCAGAGCTGGAGAGAAGAGAACCATCTTGTCCAGGTCCCTTATCCTACAAACAAGGAAAGACAGACCTAAAAAAGGCAGATGAGAATATGTGTGTGTGTGTATAGAAAGAGAGAGAGAGCGAGCGAGCGAGCGAGCGCGAGAGCGCACGCGCTTACTACTGGCTAGGTATTTTAGATTTTTTTATTTTTTAAATTTTTT
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TATTAGTGACATAAGAACAAGCAATGTATCAGAAAGTGAGGATGTAATTAAGGTTCAGTAACTGCATCCACTATTGGAAGAGCACTTCTCCGTGCCAAGGAGAGGGCTTCAAGCTTCACACCCCGTGTCAAGGTGGGCACCATCCATGCACCCCCACTTTCCACGCAACCAAGCTAGATGTGAGGCAACAGGCTGCGGGGCCAGGACCCTCCTCTGGGGGACTCTAAACGCTGTGTTTGTAACCACCATGCTGAGCCTCCTGAGGGCTATCATTGTAAATGTCCAAAATCAATGTCCAAGTAAGATAGGCAAACTTAGGCCAAGAATCTTACCTAGACTTAGATATTTCTTAAGCATTGCTAAATGTGAGAGAAGCCATGCCATAAACTGTTAAGAACACAAACAAGTCAACTTTTCACAATCCACCATCAAACTTTTCCAACAAAATATTACCTAGCATTGCTTGGGTGATAGTGAGTGGCATGAAACTGCTTAAGCTGCTCCCATGTAAGCTCCGGGATGCACAGTGGGTCACCCCCGGAGACCACTGAGTACGTGTGGTCAGGAAGAAGTCTGTTCTGAAGGTGCTGGGAGAATATCCTCTCATTGTCTGTCTTGAAACGTAAAATAAATAAATCATAAGTATACATGTAAAATAATACACACGTTACATTACTTACAATATAGCCAATTGATCACATTCTGGTGCATACACCTGTAATACTTTGCAAATAAAGCTGTTCTAATGGTTTAAAAAAAAAAAAAAAACACCCACGCAGGCATTGTTTAACACGGTATTCAATCATTCATCACCCACGCACAGGACCCAAGGATTGAGAAGAACAATGGATTTTTTGATGTGTGGTGCAACAAACGCATAGCTGAGGGCTGTAAATCGGGATGGATCAGTCGGTCTGCCCACCAGCCGTGAGGGAAGTGGGGAGAAGCTGTCACCCCAACTTGAGTTCAAGAAGACTCCTTGGAAGAAAAGACCACCAAATTGAGAATGAAAAGGTAAGAAATAGTTCACCAGCCGAGAGGAGCTACGGGAATCAGAGAGCAGGCCACCCATGAGCCTCAGGGACACCAGGACAGACAGGTTGTCCAAGTCACAAAGGGACATGAAGACATGGGCCCAGGACAGCAGCTCTTAATCCAAAATGGTCTCAAGAATCCTTTACACTCTGAAAAATTAACCCATTTATGCCTGAGGTTGCAATTTTTTTGTAAAAAATCAGACCTTGGCGATGACCTTGAGCTGTAGGACATAAATAACTCCCACAAGCTTAGGGTGCCAATAATGGAACACTAGGCATAAATGCGTTTTAATGAGGACCCAAACAGCTTTTGATTATGTGGGCGTTTTTGCCTGTGTAGGTGCCTGTGTGTGTTTATATAATTTTTCTATATTCTAAATTAAAGCTGAGACATTTAAAAAATACTTATTCATTAAGGTAAGCCATCATTACATGTTGATATAAATATTTTTGAAAAATACTTCTCATAACAAAGTAAAAAACTGATTAGAGTGGTGCTGTGTTGCCTTTTTTGCAAATCTCTGTAGCGTCTGGCTCAGAGGTGAAGCTGGACTCCCCCATTTGCTCTGTATGCAGCTCGCTGTGTGTCACACACCTTGCCATGCAGCCTCTAGAAAGTACACCGTGTACTTGGGCAAGAATGAATGAAAAGACACTGTCTTGGTAGTGGTATGAAAATAGCTTTTATCTCACAGACTTGCTGCAGATCACATACCAGGGGTCCCCAGACATGGTCTGAGACCTGCTGGGAAGAACAGCAGCCTGGCCCTGCTACCCCGACTTCTGCTCACAGCACTGACCCCAGCTAATTCAAGAATGTATCACCTATAATGAGAATATTAAATAAAATCTTCCAGATGTGTCTATATCATGATATTGTACATGGGAAAGGTAAGCTGAACACAACATAAAAAAGGAAGAAAACTTACAAACGCTCCCTTCATCTCATTAAAGACGACTCCTTTAAAGACCAAGGGCGTCTGGGGGTCGCTCGGATTCTCATGTTCCAGCTGCCATCCTTCCTGCCTGAGGACAAATCATTATAAGCTGATAGTGACTCAAATACTAAAGTCTGTATCAACTAGTTAATCATTCATGACATACCAGAAATCCAGCTCGCGTAAACATGGGAAAAAGGTGGCATCCAAATACACCGAGAGGAGATTCTGAAAGTCCTTGGGATTTTGTGTGGAAAATGGATACAGAGTATAATCACTAGCTGGGTACAAATGAAAAGTGAAATTGTAAAATATAACAGATTTCTACTAAAATTATTGACTCTCAAGACTCATTCCCCCTTTGTCCTAGGACAGTAAGCTGTAGCTATTCTTGGGATGGGGCAGTGGCCCCATGCTCTGGTCCCTGGCCTCAGCAGCTGTCCCAGCTCATAACCCCAAGTGCCGGCTTTCCCATCCCGTCTCAGGATCTGCACTCGACGGGCACCAGGGCTTTCTTCAGCGAATATCTAAACTCTCTCAAGTTTCTCCAGAGACTTTCATACATCTACAAAGATGACCTCATTCTGTAACAGCATGGATTTAACCCGCTCTTCAATGTCACTCCCCCACAGAATGCACTGTTCATCGTCACCCTATCCACTATCGTCAGTCTTACTAAAAGTCAAACATCAACATTAGTAGTAACTCTGGCATTGTAGCGATATCTCCAAGAGAAAATTGTTTTGAACTTTTCTGGGAAAAGTTCACATATGTTTTCTTAAAACGCTAGTTTTTACAATCTCGCTACCATGTGGCTTTCCTGAAGGATTAAATTTCTAATGTCCTTCAACTAGAGAGAGGTAAAAATTTTTCTAGAACATGAATTGCCCACTCCCCTCATTCCTTCTCAGAAACTAACTGAATTCCAGTGGGTGTGCCTGGCAAACCCAAAAGCAGTTTCTGTTCAGGATGCTGGTCTTACCTGTGAAGGCGTTCATGAACGTGGAGAGGGACCGGTTCAACATTTTGAAGAAAGGGTCTCTGCACGGATATTTCTGAGACCCACAAAGGACGGTATGCTCAAGAATGTGAGGAACACCAGTACTGTCCATGGGAGTAGTACGGAACTGCACGCTAGGGAAGGAGAATGACCAGAACGCAAAAGGTTCAGCTTAGTGCTGCGGACACAGTTCCCAGATGCATCATCACCTCAGGCTACTAGAAATCATCATTCTGACACCACAATCCTCCAGCACAGGGTTTTCCAACTATAATGTAAATCATTGACTCAGACTGTAAAATTGTATTTTGATGAGATTATAAGTCAGTGTAAACTTTTCCTTATTTTTCAAGATGCTCTGTCAATAAAAATACTAGTGAGATGATATTTTAAACCACGTAATGTATAGCCATGTTTTAAATCAAGCTTGTCCAACCCGCAGCCTGCAGCCCGCATGCTCAGGATGGCTTGAAATGCAGCCCAACACAAATTCATACACTTTCTTAAAACATTGAGGGGTCCTTTATTTATTATTTTTAGCTCATCAGCTGTCCTTAGTGTTAGTGTATTTTATGCGTGGCCTAAGACAGTTGTTCTTCTTCCATTGTGGCACAGGGAAGCCAAAAGAATGGACATTCCTGATTTAAATAAAAACATTCAAGACCATGTTCTTACAATGCACCACACACCTGAACAGATTATTCGTGTCTTCTCTGGCCAGGTGTAAATACCTGGCTCCTGTGTCATCATGGGTGAGCTTCACTGCAGTCAGGAACAGCTCGGGAACAGATGTCACCTGAGTTAACAAGAAAAACACGACCAGTTAAACTTAGACAAAATGGCCTTTGAAATGGTTATGTTCGACACACTGAGAAAACTGGCTTTTCTGCCTGAAATTAGATGATGCCGGGAAGGCAGTATTTCAGAGCTGGAGAGAAGAGAACCATCTTGTCCAGGTCCCTTATCCTACAAACAAGGAAAGACAGACCTAAAAAAGGCAGATGAGAATATGTGTGTGTGTGTATAGAAAGAGAGAGAGAGCGAGCGAGCGAGCGAGCGCGAGAGCGCACGCGCTTACTACTGGCTAGGTATTTTAGATTTTTTTATTTTTTAAATTTTTT
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Task1_train_13633
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With a mutation on Chromosome 10 in gene KLF6 (KLF transcription factor 6), classify this variant as benign or pathogenic. Include the disease if it's pathogenic.
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Pathogenic; Prostate cancer, somatic
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GGAATGTGAATTAAGAATGTCCCCCACCAGTGGCTGGAGGTTCTTTGGAGAATCTGAACGGACTTCATTTCTAATTCTTCAAATATGAAAACTGTTGAAAGGCCAATCTCCAAACATATCAATAAACTGACTCCAATGTCAGGTGTATGTGGAACAGTTCTTCCTAACCATGGACAATGAGCACACCAGAAACTTTCTAAAAAGTCCCAGGCTTGAAAAGAAATGTTCACACATAGGAAACTGCATGCCTTCCTTCGAATGTGCCCTGCACACCTACTCAACCCTGGTCATCACATTCCCAAGGCCCCACGCTCCTTGCCCAGCATTGTCCTCAGGCACGTACCTGTCACAGTGGGAGCATTTAAAAGGCTTGGCCCCGGTGTGCTTTCGGAAGTGCCTGGTTAACTCATCACTTCTTGCAAAACGCCACTCACACCCTTCCCATGAGCATCTGTAAGGCTTTTCTCCTGGGGAGAGAGCACAGGACAAGCAGCCCATGACTTCACTGACCCGCAGACGGAAAGGGGAAATTCAACAACACACACAGTGGTGGGATGCAAGGCCAGGGACCCAGTGGCTTCTGGCATCGGTAACACACAACAACTGGCAGCCTCAGAGAGACAACAGCAGCTCTCTCCTGACCCAGTCTCAGGCCTCCCACTGCTGTCCAAGGGACACAGCTTCAGCCAAGCCCATGGTGCTGTCATCAAAGTTAACGTGGAAGAACGACCACGACTCAGACCAGCAAAATGCTTGCGGGATGAGGTGTCAGCCTGCCGGACCCACAGCCCCGGCAAAGGCAGAGCTATTGCTTTCTTCATGGCAACTGTTTCTCCCAAACACACTTCTGTTCCATCCTCACTTCCCTATGGAATGTGCCTCTGCAGTTTCCTCAGGGACGTTCTACCTTTCTACAAAGCTGAAGTTACGAGCTTCTGGAAAGCCCCAGTACAGGGCCCCGGAATCATTCTCTAAATGGCAATTGAACAACTGGGTTCACTTCATTCCTTGGTCAAATCATAAATATGAATTTACTACAAGTGCTACCTGAGAAAACAAAGTTGTCAAGCCAATCTCAGGGTATGTTGAGACAGGCCTGGGCCTGGATATTGGGCCACCCGGATCTCAATCTCAGCTGTCACCAAGCCTGTCTGGGACTGACTCTCAGCAATTTGCTCTCCTACTGATAAGAGAAGAGCCTGCATCACGTGATCACTAAGACCCTTCCCAGTTCTAAATGTTCTGTGATTCCTCACCAATTATCCTAGAACATGTCAAGGTATTTTTAAATAGCACTTTCACCTAGGTATGGCATTTCATTAAGAAACTGTTTCAAGCGGTATCAGAAACAAAGGCTGCATGAGACACGGAGAAGTTCTCAGGAAACACTCGCTGATCAATGCTGCTGCTTACAGAGCAGGCCGGTCCCACTCGGGCCTCGGGCCGTCAGCATCAAACCCACACACTCCACGCTGCCCAGCAACCCTCTGTCCTGACCCTTGAGTTTCATTTAGGAAACCCCAGGGCCGCTCGAGGTAGCCTCGTGCGAGTGCACTGGTGAAGGGGCAGTGGCCTCGGATCCCCAGCACTACTAAGGGGTGGGGGGTGGAGGTTTGGGTGTCCGTGGAGAAAAGGATCTAGTCTCTTGTTTGTTTAATCTGAAAATTGTTACACATTTATCCAACTCAAAAGTCCAGTCTTTAGGATTCTACTCTGAACTCCAAAAAGACCTAATGCTTTGGTGGAAAACATCTGAGGAAGTGAGGATTTGTCTGCCCTGACCACATCCTGTGCAGCCAGGCCCGGCTCCCTCCAGGGCTGGTGCAATGCAGTGGCGCCCACCAGCGGCCGCCCTCCGGGGCCCGCGTGGGCACTGACCTGTGTGCGTCCGCTGGTGTGCTTTCAAGTGGGAGCTTTTGGTGTAAACTTTCCTGCAGCCGTTAAAGTGGCACCGGTGCACCCTCCTCCTGCCGTCGGGGGAGGCATCGCCATTTCCCTTGTCACCTGGCTTCCCCGAAGTCCCGCTGCGCACCTTCCCTGGCGAGGGCAGCTCCCCGGGCACGCAACCCCACAGTTGAGAAGGTTCCCTGCTCAGTTCCGGAGAAGATGGAGGCGTGGAGGTGACAGAGGAGCTCAATTTTCCCGAGCTGACCAAAACTTCGCCAATGGGGTCGGAGGTAAACTTGGCCGTGGGAGAAAGTTCCTCGGAGCTGTCAGAGGATTCGCTGCTGACATCTGAGTTCAGGCTGTTGGTCTCTAAGTTGTAACAAAAGCTCGGGCTGATGAGAGTGTCCTCTGGAGGACTGGAAGATATCTTCAGTTCGGATTCCTCCTTTTTCTCCCGAGCCAGAATGATTTTGGTCCACAGATCTTCCTGGCTGTCAAATTTGATTTCTGAGGCTGAAACATAGCAGGGCTCGCTCTGGAGGTAACGTTCCAGCTCTAGGCAGGTCTGTGCAAAATGAACCAGAGAAGGCACGTGATTGCCATGACGACCAAAAGTAAAAGCAAAAGCAATTTCCAAAAACATGCAAGAATGAAGGACAGATAACATTGCTGCCCGGTCACTACAGGGGCAAAACCTTTTGTAATTAAGCATCCGTGTCCTTACGGAAGTTAGAGGAAATCTGTTTCTAGAATGGTAAGAATTCAGAGGAAAAGTCGGAGGGTGAAACCTCTCCTGGCTTTCCCAATGTTGGGCCAAGGGCCACAATGAGTGATGATCACTAAGCCGGTTTTTTTGTTGTAGTTACCAGTGTTGATGTTTCTCATGAAACCAGAGGAAGAGAACCGGCCCCATACACATACTCCTCCCCAACAGGTTCAACCAGATTATCTGACATTGTCAAGAACCATGTGTTTTAAGGAAAGCCCCAGCCATCCACCCTTCACACTCCACAGATACCCACACAGGACAGAAAGACTGCACGGCACACAGCGTGTTCTGAGGGACCCCCTTGGGGACACGGCTGACAACACAGGGCCACACTCGGGGGAGAGGAGACAGCAGCTGTCTGTATTCAGGGGCATCGAATGGAGCTGCAGAAAAACCACCCATTTCCTGTGTAGCCCAGACCGCCTATGTTTTCACAGAATGCCGTTCCCAAGTGCAGGCCCTTGCATGACACAGAACTTTAATTACTTCTACAGTGGTCAGAGAAAAACAAGGAACTTCAACAACAGGAGTGCAGAAATAATTCCAGCATGGCCATCTGCTATTGTGAAGGGTGCAAGGGGAAATTACTCCACGGCCCTGCTGGGAGTCCCACAATGAACAAGAACTTTATCTACTGGCCAAGAGTACAACTGCATGAGTCATCACTCTGATTTCTTTCACGCAATGCCAAAGGAGACTTCCTTTTGAAATTCTCATCAGCAGCCAAATAAGGACCCAGCTCAAATGGACATGCAGTGTGGCATGGACAGTACCCCTTCCCCAGCCCCGCAACCAACCTTTCAAGAAGCTACAACTGCCGAGATCAGCATCCCCTCTCCCCACCATTTCAAACTTTCTAGCCACTGGAAAAGAAAAATGGTAGGAAACATTTTAGGATTAAATTATGTCTGCCCTGATTTTCACGAGGATCAGCTGCCTGCATGTCCATATAAGGTTGTCTATACTACTGGCAATTCTACAGATTTCAGTTTCTACACCAAACGGCTCTGGTGAGCACGTCATTTTTCCGGGCAGGGACCTTCCTGAGCGCAGCCTACCCCAGGGGCTCAGGCTGACTTAGCAGTGTGCCTCTCTCCTGCCACAGGCAATCCCTCCCCCTCCCCAGGCTCGCACACAGCCGGTGGGAGCAAGCACACGGGAGAATCATGCTTTCCCCTTTCCCCCGAAACCAGGCGTCTGAGTTACAATGCACACTACAGCGTTCTGAAGAGAGGCAGCAGCGATGTATTTTATTGATTTAACAAAGAAAAAAGAAAAGCACATTTATGGAGATCTTGTTAAACTTTAATAATCCGGCCAATTTAAAATCTCCATTACGCTGATGAGCACCCGGGACCTGAACGAAGCTCTCGGAGAGTTTAAAAGCCTCCAAAGGCGACCAAGAGCCAGGTCTGGCCGTTTGCCCAAATCCCAAACGCC
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GGAATGTGAATTAAGAATGTCCCCCACCAGTGGCTGGAGGTTCTTTGGAGAATCTGAACGGACTTCATTTCTAATTCTTCAAATATGAAAACTGTTGAAAGGCCAATCTCCAAACATATCAATAAACTGACTCCAATGTCAGGTGTATGTGGAACAGTTCTTCCTAACCATGGACAATGAGCACACCAGAAACTTTCTAAAAAGTCCCAGGCTTGAAAAGAAATGTTCACACATAGGAAACTGCATGCCTTCCTTCGAATGTGCCCTGCACACCTACTCAACCCTGGTCATCACATTCCCAAGGCCCCACGCTCCTTGCCCAGCATTGTCCTCAGGCACGTACCTGTCACAGTGGGAGCATTTAAAAGGCTTGGCCCCGGTGTGCTTTCGGAAGTGCCTGGTTAACTCATCACTTCTTGCAAAACGCCACTCACACCCTTCCCATGAGCATCTGTAAGGCTTTTCTCCTGGGGAGAGAGCACAGGACAAGCAGCCCATGACTTCACTGACCCGCAGACGGAAAGGGGAAATTCAACAACACACACAGTGGTGGGATGCAAGGCCAGGGACCCAGTGGCTTCTGGCATCGGTAACACACAACAACTGGCAGCCTCAGAGAGACAACAGCAGCTCTCTCCTGACCCAGTCTCAGGCCTCCCACTGCTGTCCAAGGGACACAGCTTCAGCCAAGCCCATGGTGCTGTCATCAAAGTTAACGTGGAAGAACGACCACGACTCAGACCAGCAAAATGCTTGCGGGATGAGGTGTCAGCCTGCCGGACCCACAGCCCCGGCAAAGGCAGAGCTATTGCTTTCTTCATGGCAACTGTTTCTCCCAAACACACTTCTGTTCCATCCTCACTTCCCTATGGAATGTGCCTCTGCAGTTTCCTCAGGGACGTTCTACCTTTCTACAAAGCTGAAGTTACGAGCTTCTGGAAAGCCCCAGTACAGGGCCCCGGAATCATTCTCTAAATGGCAATTGAACAACTGGGTTCACTTCATTCCTTGGTCAAATCATAAATATGAATTTACTACAAGTGCTACCTGAGAAAACAAAGTTGTCAAGCCAATCTCAGGGTATGTTGAGACAGGCCTGGGCCTGGATATTGGGCCACCCGGATCTCAATCTCAGCTGTCACCAAGCCTGTCTGGGACTGACTCTCAGCAATTTGCTCTCCTACTGATAAGAGAAGAGCCTGCATCACGTGATCACTAAGACCCTTCCCAGTTCTAAATGTTCTGTGATTCCTCACCAATTATCCTAGAACATGTCAAGGTATTTTTAAATAGCACTTTCACCTAGGTATGGCATTTCATTAAGAAACTGTTTCAAGCGGTATCAGAAACAAAGGCTGCATGAGACACGGAGAAGTTCTCAGGAAACACTCGCTGATCAATGCTGCTGCTTACAGAGCAGGCCGGTCCCACTCGGGCCTCGGGCCGTCAGCATCAAACCCACACACTCCACGCTGCCCAGCAACCCTCTGTCCTGACCCTTGAGTTTCATTTAGGAAACCCCAGGGCCGCTCGAGGTAGCCTCGTGCGAGTGCACTGGTGAAGGGGCAGTGGCCTCGGATCCCCAGCACTACTAAGGGGTGGGGGGTGGAGGTTTGGGTGTCCGTGGAGAAAAGGATCTAGTCTCTTGTTTGTTTAATCTGAAAATTGTTACACATTTATCCAACTCAAAAGTCCAGTCTTTAGGATTCTACTCTGAACTCCAAAAAGACCTAATGCTTTGGTGGAAAACATCTGAGGAAGTGAGGATTTGTCTGCCCTGACCACATCCTGTGCAGCCAGGCCCGGCTCCCTCCAGGGCTGGTGCAATGCAGTGGCGCCCACCAGCGGCCGCCCTCCGGGGCCCGCGTGGGCACTGACCTGTGTGCGTCCGCTGGTGTGCTTTCAAGTGGGAGCTTTTGGTGTAAACTTTCCTGCAGCCGTTAAAGTGGCACCGGTGCACCCTCCTCCTGCCGTCGGGGGAGGCATCGCCATTTCCCTTGTCACCTGGCTTCCCCGAAGTCCCGCTGCGCACCTTCCCTGGCGAGGGCGGCTCCCCGGGCACGCAACCCCACAGTTGAGAAGGTTCCCTGCTCAGTTCCGGAGAAGATGGAGGCGTGGAGGTGACAGAGGAGCTCAATTTTCCCGAGCTGACCAAAACTTCGCCAATGGGGTCGGAGGTAAACTTGGCCGTGGGAGAAAGTTCCTCGGAGCTGTCAGAGGATTCGCTGCTGACATCTGAGTTCAGGCTGTTGGTCTCTAAGTTGTAACAAAAGCTCGGGCTGATGAGAGTGTCCTCTGGAGGACTGGAAGATATCTTCAGTTCGGATTCCTCCTTTTTCTCCCGAGCCAGAATGATTTTGGTCCACAGATCTTCCTGGCTGTCAAATTTGATTTCTGAGGCTGAAACATAGCAGGGCTCGCTCTGGAGGTAACGTTCCAGCTCTAGGCAGGTCTGTGCAAAATGAACCAGAGAAGGCACGTGATTGCCATGACGACCAAAAGTAAAAGCAAAAGCAATTTCCAAAAACATGCAAGAATGAAGGACAGATAACATTGCTGCCCGGTCACTACAGGGGCAAAACCTTTTGTAATTAAGCATCCGTGTCCTTACGGAAGTTAGAGGAAATCTGTTTCTAGAATGGTAAGAATTCAGAGGAAAAGTCGGAGGGTGAAACCTCTCCTGGCTTTCCCAATGTTGGGCCAAGGGCCACAATGAGTGATGATCACTAAGCCGGTTTTTTTGTTGTAGTTACCAGTGTTGATGTTTCTCATGAAACCAGAGGAAGAGAACCGGCCCCATACACATACTCCTCCCCAACAGGTTCAACCAGATTATCTGACATTGTCAAGAACCATGTGTTTTAAGGAAAGCCCCAGCCATCCACCCTTCACACTCCACAGATACCCACACAGGACAGAAAGACTGCACGGCACACAGCGTGTTCTGAGGGACCCCCTTGGGGACACGGCTGACAACACAGGGCCACACTCGGGGGAGAGGAGACAGCAGCTGTCTGTATTCAGGGGCATCGAATGGAGCTGCAGAAAAACCACCCATTTCCTGTGTAGCCCAGACCGCCTATGTTTTCACAGAATGCCGTTCCCAAGTGCAGGCCCTTGCATGACACAGAACTTTAATTACTTCTACAGTGGTCAGAGAAAAACAAGGAACTTCAACAACAGGAGTGCAGAAATAATTCCAGCATGGCCATCTGCTATTGTGAAGGGTGCAAGGGGAAATTACTCCACGGCCCTGCTGGGAGTCCCACAATGAACAAGAACTTTATCTACTGGCCAAGAGTACAACTGCATGAGTCATCACTCTGATTTCTTTCACGCAATGCCAAAGGAGACTTCCTTTTGAAATTCTCATCAGCAGCCAAATAAGGACCCAGCTCAAATGGACATGCAGTGTGGCATGGACAGTACCCCTTCCCCAGCCCCGCAACCAACCTTTCAAGAAGCTACAACTGCCGAGATCAGCATCCCCTCTCCCCACCATTTCAAACTTTCTAGCCACTGGAAAAGAAAAATGGTAGGAAACATTTTAGGATTAAATTATGTCTGCCCTGATTTTCACGAGGATCAGCTGCCTGCATGTCCATATAAGGTTGTCTATACTACTGGCAATTCTACAGATTTCAGTTTCTACACCAAACGGCTCTGGTGAGCACGTCATTTTTCCGGGCAGGGACCTTCCTGAGCGCAGCCTACCCCAGGGGCTCAGGCTGACTTAGCAGTGTGCCTCTCTCCTGCCACAGGCAATCCCTCCCCCTCCCCAGGCTCGCACACAGCCGGTGGGAGCAAGCACACGGGAGAATCATGCTTTCCCCTTTCCCCCGAAACCAGGCGTCTGAGTTACAATGCACACTACAGCGTTCTGAAGAGAGGCAGCAGCGATGTATTTTATTGATTTAACAAAGAAAAAAGAAAAGCACATTTATGGAGATCTTGTTAAACTTTAATAATCCGGCCAATTTAAAATCTCCATTACGCTGATGAGCACCCGGGACCTGAACGAAGCTCTCGGAGAGTTTAAAAGCCTCCAAAGGCGACCAAGAGCCAGGTCTGGCCGTTTGCCCAAATCCCAAACGCC
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Task1_train_13634
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This variant affects the gene KLF6 (KLF transcription factor 6) found on Chromosome 10. What is the clinical effect of this variant — benign or pathogenic? State the disease if applicable.
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Pathogenic; Gastric cancer
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TCTTTGGAGAATCTGAACGGACTTCATTTCTAATTCTTCAAATATGAAAACTGTTGAAAGGCCAATCTCCAAACATATCAATAAACTGACTCCAATGTCAGGTGTATGTGGAACAGTTCTTCCTAACCATGGACAATGAGCACACCAGAAACTTTCTAAAAAGTCCCAGGCTTGAAAAGAAATGTTCACACATAGGAAACTGCATGCCTTCCTTCGAATGTGCCCTGCACACCTACTCAACCCTGGTCATCACATTCCCAAGGCCCCACGCTCCTTGCCCAGCATTGTCCTCAGGCACGTACCTGTCACAGTGGGAGCATTTAAAAGGCTTGGCCCCGGTGTGCTTTCGGAAGTGCCTGGTTAACTCATCACTTCTTGCAAAACGCCACTCACACCCTTCCCATGAGCATCTGTAAGGCTTTTCTCCTGGGGAGAGAGCACAGGACAAGCAGCCCATGACTTCACTGACCCGCAGACGGAAAGGGGAAATTCAACAACACACACAGTGGTGGGATGCAAGGCCAGGGACCCAGTGGCTTCTGGCATCGGTAACACACAACAACTGGCAGCCTCAGAGAGACAACAGCAGCTCTCTCCTGACCCAGTCTCAGGCCTCCCACTGCTGTCCAAGGGACACAGCTTCAGCCAAGCCCATGGTGCTGTCATCAAAGTTAACGTGGAAGAACGACCACGACTCAGACCAGCAAAATGCTTGCGGGATGAGGTGTCAGCCTGCCGGACCCACAGCCCCGGCAAAGGCAGAGCTATTGCTTTCTTCATGGCAACTGTTTCTCCCAAACACACTTCTGTTCCATCCTCACTTCCCTATGGAATGTGCCTCTGCAGTTTCCTCAGGGACGTTCTACCTTTCTACAAAGCTGAAGTTACGAGCTTCTGGAAAGCCCCAGTACAGGGCCCCGGAATCATTCTCTAAATGGCAATTGAACAACTGGGTTCACTTCATTCCTTGGTCAAATCATAAATATGAATTTACTACAAGTGCTACCTGAGAAAACAAAGTTGTCAAGCCAATCTCAGGGTATGTTGAGACAGGCCTGGGCCTGGATATTGGGCCACCCGGATCTCAATCTCAGCTGTCACCAAGCCTGTCTGGGACTGACTCTCAGCAATTTGCTCTCCTACTGATAAGAGAAGAGCCTGCATCACGTGATCACTAAGACCCTTCCCAGTTCTAAATGTTCTGTGATTCCTCACCAATTATCCTAGAACATGTCAAGGTATTTTTAAATAGCACTTTCACCTAGGTATGGCATTTCATTAAGAAACTGTTTCAAGCGGTATCAGAAACAAAGGCTGCATGAGACACGGAGAAGTTCTCAGGAAACACTCGCTGATCAATGCTGCTGCTTACAGAGCAGGCCGGTCCCACTCGGGCCTCGGGCCGTCAGCATCAAACCCACACACTCCACGCTGCCCAGCAACCCTCTGTCCTGACCCTTGAGTTTCATTTAGGAAACCCCAGGGCCGCTCGAGGTAGCCTCGTGCGAGTGCACTGGTGAAGGGGCAGTGGCCTCGGATCCCCAGCACTACTAAGGGGTGGGGGGTGGAGGTTTGGGTGTCCGTGGAGAAAAGGATCTAGTCTCTTGTTTGTTTAATCTGAAAATTGTTACACATTTATCCAACTCAAAAGTCCAGTCTTTAGGATTCTACTCTGAACTCCAAAAAGACCTAATGCTTTGGTGGAAAACATCTGAGGAAGTGAGGATTTGTCTGCCCTGACCACATCCTGTGCAGCCAGGCCCGGCTCCCTCCAGGGCTGGTGCAATGCAGTGGCGCCCACCAGCGGCCGCCCTCCGGGGCCCGCGTGGGCACTGACCTGTGTGCGTCCGCTGGTGTGCTTTCAAGTGGGAGCTTTTGGTGTAAACTTTCCTGCAGCCGTTAAAGTGGCACCGGTGCACCCTCCTCCTGCCGTCGGGGGAGGCATCGCCATTTCCCTTGTCACCTGGCTTCCCCGAAGTCCCGCTGCGCACCTTCCCTGGCGAGGGCAGCTCCCCGGGCACGCAACCCCACAGTTGAGAAGGTTCCCTGCTCAGTTCCGGAGAAGATGGAGGCGTGGAGGTGACAGAGGAGCTCAATTTTCCCGAGCTGACCAAAACTTCGCCAATGGGGTCGGAGGTAAACTTGGCCGTGGGAGAAAGTTCCTCGGAGCTGTCAGAGGATTCGCTGCTGACATCTGAGTTCAGGCTGTTGGTCTCTAAGTTGTAACAAAAGCTCGGGCTGATGAGAGTGTCCTCTGGAGGACTGGAAGATATCTTCAGTTCGGATTCCTCCTTTTTCTCCCGAGCCAGAATGATTTTGGTCCACAGATCTTCCTGGCTGTCAAATTTGATTTCTGAGGCTGAAACATAGCAGGGCTCGCTCTGGAGGTAACGTTCCAGCTCTAGGCAGGTCTGTGCAAAATGAACCAGAGAAGGCACGTGATTGCCATGACGACCAAAAGTAAAAGCAAAAGCAATTTCCAAAAACATGCAAGAATGAAGGACAGATAACATTGCTGCCCGGTCACTACAGGGGCAAAACCTTTTGTAATTAAGCATCCGTGTCCTTACGGAAGTTAGAGGAAATCTGTTTCTAGAATGGTAAGAATTCAGAGGAAAAGTCGGAGGGTGAAACCTCTCCTGGCTTTCCCAATGTTGGGCCAAGGGCCACAATGAGTGATGATCACTAAGCCGGTTTTTTTGTTGTAGTTACCAGTGTTGATGTTTCTCATGAAACCAGAGGAAGAGAACCGGCCCCATACACATACTCCTCCCCAACAGGTTCAACCAGATTATCTGACATTGTCAAGAACCATGTGTTTTAAGGAAAGCCCCAGCCATCCACCCTTCACACTCCACAGATACCCACACAGGACAGAAAGACTGCACGGCACACAGCGTGTTCTGAGGGACCCCCTTGGGGACACGGCTGACAACACAGGGCCACACTCGGGGGAGAGGAGACAGCAGCTGTCTGTATTCAGGGGCATCGAATGGAGCTGCAGAAAAACCACCCATTTCCTGTGTAGCCCAGACCGCCTATGTTTTCACAGAATGCCGTTCCCAAGTGCAGGCCCTTGCATGACACAGAACTTTAATTACTTCTACAGTGGTCAGAGAAAAACAAGGAACTTCAACAACAGGAGTGCAGAAATAATTCCAGCATGGCCATCTGCTATTGTGAAGGGTGCAAGGGGAAATTACTCCACGGCCCTGCTGGGAGTCCCACAATGAACAAGAACTTTATCTACTGGCCAAGAGTACAACTGCATGAGTCATCACTCTGATTTCTTTCACGCAATGCCAAAGGAGACTTCCTTTTGAAATTCTCATCAGCAGCCAAATAAGGACCCAGCTCAAATGGACATGCAGTGTGGCATGGACAGTACCCCTTCCCCAGCCCCGCAACCAACCTTTCAAGAAGCTACAACTGCCGAGATCAGCATCCCCTCTCCCCACCATTTCAAACTTTCTAGCCACTGGAAAAGAAAAATGGTAGGAAACATTTTAGGATTAAATTATGTCTGCCCTGATTTTCACGAGGATCAGCTGCCTGCATGTCCATATAAGGTTGTCTATACTACTGGCAATTCTACAGATTTCAGTTTCTACACCAAACGGCTCTGGTGAGCACGTCATTTTTCCGGGCAGGGACCTTCCTGAGCGCAGCCTACCCCAGGGGCTCAGGCTGACTTAGCAGTGTGCCTCTCTCCTGCCACAGGCAATCCCTCCCCCTCCCCAGGCTCGCACACAGCCGGTGGGAGCAAGCACACGGGAGAATCATGCTTTCCCCTTTCCCCCGAAACCAGGCGTCTGAGTTACAATGCACACTACAGCGTTCTGAAGAGAGGCAGCAGCGATGTATTTTATTGATTTAACAAAGAAAAAAGAAAAGCACATTTATGGAGATCTTGTTAAACTTTAATAATCCGGCCAATTTAAAATCTCCATTACGCTGATGAGCACCCGGGACCTGAACGAAGCTCTCGGAGAGTTTAAAAGCCTCCAAAGGCGACCAAGAGCCAGGTCTGGCCGTTTGCCCAAATCCCAAACGCCCGAAGGAAACTACTTAGATCAATTTCAATCACGTCCTAGGG
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TCTTTGGAGAATCTGAACGGACTTCATTTCTAATTCTTCAAATATGAAAACTGTTGAAAGGCCAATCTCCAAACATATCAATAAACTGACTCCAATGTCAGGTGTATGTGGAACAGTTCTTCCTAACCATGGACAATGAGCACACCAGAAACTTTCTAAAAAGTCCCAGGCTTGAAAAGAAATGTTCACACATAGGAAACTGCATGCCTTCCTTCGAATGTGCCCTGCACACCTACTCAACCCTGGTCATCACATTCCCAAGGCCCCACGCTCCTTGCCCAGCATTGTCCTCAGGCACGTACCTGTCACAGTGGGAGCATTTAAAAGGCTTGGCCCCGGTGTGCTTTCGGAAGTGCCTGGTTAACTCATCACTTCTTGCAAAACGCCACTCACACCCTTCCCATGAGCATCTGTAAGGCTTTTCTCCTGGGGAGAGAGCACAGGACAAGCAGCCCATGACTTCACTGACCCGCAGACGGAAAGGGGAAATTCAACAACACACACAGTGGTGGGATGCAAGGCCAGGGACCCAGTGGCTTCTGGCATCGGTAACACACAACAACTGGCAGCCTCAGAGAGACAACAGCAGCTCTCTCCTGACCCAGTCTCAGGCCTCCCACTGCTGTCCAAGGGACACAGCTTCAGCCAAGCCCATGGTGCTGTCATCAAAGTTAACGTGGAAGAACGACCACGACTCAGACCAGCAAAATGCTTGCGGGATGAGGTGTCAGCCTGCCGGACCCACAGCCCCGGCAAAGGCAGAGCTATTGCTTTCTTCATGGCAACTGTTTCTCCCAAACACACTTCTGTTCCATCCTCACTTCCCTATGGAATGTGCCTCTGCAGTTTCCTCAGGGACGTTCTACCTTTCTACAAAGCTGAAGTTACGAGCTTCTGGAAAGCCCCAGTACAGGGCCCCGGAATCATTCTCTAAATGGCAATTGAACAACTGGGTTCACTTCATTCCTTGGTCAAATCATAAATATGAATTTACTACAAGTGCTACCTGAGAAAACAAAGTTGTCAAGCCAATCTCAGGGTATGTTGAGACAGGCCTGGGCCTGGATATTGGGCCACCCGGATCTCAATCTCAGCTGTCACCAAGCCTGTCTGGGACTGACTCTCAGCAATTTGCTCTCCTACTGATAAGAGAAGAGCCTGCATCACGTGATCACTAAGACCCTTCCCAGTTCTAAATGTTCTGTGATTCCTCACCAATTATCCTAGAACATGTCAAGGTATTTTTAAATAGCACTTTCACCTAGGTATGGCATTTCATTAAGAAACTGTTTCAAGCGGTATCAGAAACAAAGGCTGCATGAGACACGGAGAAGTTCTCAGGAAACACTCGCTGATCAATGCTGCTGCTTACAGAGCAGGCCGGTCCCACTCGGGCCTCGGGCCGTCAGCATCAAACCCACACACTCCACGCTGCCCAGCAACCCTCTGTCCTGACCCTTGAGTTTCATTTAGGAAACCCCAGGGCCGCTCGAGGTAGCCTCGTGCGAGTGCACTGGTGAAGGGGCAGTGGCCTCGGATCCCCAGCACTACTAAGGGGTGGGGGGTGGAGGTTTGGGTGTCCGTGGAGAAAAGGATCTAGTCTCTTGTTTGTTTAATCTGAAAATTGTTACACATTTATCCAACTCAAAAGTCCAGTCTTTAGGATTCTACTCTGAACTCCAAAAAGACCTAATGCTTTGGTGGAAAACATCTGAGGAAGTGAGGATTTGTCTGCCCTGACCACATCCTGTGCAGCCAGGCCCGGCTCCCTCCAGGGCTGGTGCAATGCAGTGGCGCCCACCAGCGGCCGCCCTCCGGGGCCCGCGTGGGCACTGACCTGTGTGCGTCCGCTGGTGTGCTTTCAAGTGGGAGCTTTTGGTGTAAACTTTCCTGCAGCCGTTAAAGTGGCACCGGTGCACCCTCCTCCTGCCGTCGGGGGAGGCATCGCCATTTCCCTTGTCACCTGGCTTCCCCGAAGTCCCGCTGCGCACCTTCCCTGGCGAGGGCAGCTCCCCGGGCACGCAACCCCACAGTTGAGAAGGTTCCCTTCTCAGTTCCGGAGAAGATGGAGGCGTGGAGGTGACAGAGGAGCTCAATTTTCCCGAGCTGACCAAAACTTCGCCAATGGGGTCGGAGGTAAACTTGGCCGTGGGAGAAAGTTCCTCGGAGCTGTCAGAGGATTCGCTGCTGACATCTGAGTTCAGGCTGTTGGTCTCTAAGTTGTAACAAAAGCTCGGGCTGATGAGAGTGTCCTCTGGAGGACTGGAAGATATCTTCAGTTCGGATTCCTCCTTTTTCTCCCGAGCCAGAATGATTTTGGTCCACAGATCTTCCTGGCTGTCAAATTTGATTTCTGAGGCTGAAACATAGCAGGGCTCGCTCTGGAGGTAACGTTCCAGCTCTAGGCAGGTCTGTGCAAAATGAACCAGAGAAGGCACGTGATTGCCATGACGACCAAAAGTAAAAGCAAAAGCAATTTCCAAAAACATGCAAGAATGAAGGACAGATAACATTGCTGCCCGGTCACTACAGGGGCAAAACCTTTTGTAATTAAGCATCCGTGTCCTTACGGAAGTTAGAGGAAATCTGTTTCTAGAATGGTAAGAATTCAGAGGAAAAGTCGGAGGGTGAAACCTCTCCTGGCTTTCCCAATGTTGGGCCAAGGGCCACAATGAGTGATGATCACTAAGCCGGTTTTTTTGTTGTAGTTACCAGTGTTGATGTTTCTCATGAAACCAGAGGAAGAGAACCGGCCCCATACACATACTCCTCCCCAACAGGTTCAACCAGATTATCTGACATTGTCAAGAACCATGTGTTTTAAGGAAAGCCCCAGCCATCCACCCTTCACACTCCACAGATACCCACACAGGACAGAAAGACTGCACGGCACACAGCGTGTTCTGAGGGACCCCCTTGGGGACACGGCTGACAACACAGGGCCACACTCGGGGGAGAGGAGACAGCAGCTGTCTGTATTCAGGGGCATCGAATGGAGCTGCAGAAAAACCACCCATTTCCTGTGTAGCCCAGACCGCCTATGTTTTCACAGAATGCCGTTCCCAAGTGCAGGCCCTTGCATGACACAGAACTTTAATTACTTCTACAGTGGTCAGAGAAAAACAAGGAACTTCAACAACAGGAGTGCAGAAATAATTCCAGCATGGCCATCTGCTATTGTGAAGGGTGCAAGGGGAAATTACTCCACGGCCCTGCTGGGAGTCCCACAATGAACAAGAACTTTATCTACTGGCCAAGAGTACAACTGCATGAGTCATCACTCTGATTTCTTTCACGCAATGCCAAAGGAGACTTCCTTTTGAAATTCTCATCAGCAGCCAAATAAGGACCCAGCTCAAATGGACATGCAGTGTGGCATGGACAGTACCCCTTCCCCAGCCCCGCAACCAACCTTTCAAGAAGCTACAACTGCCGAGATCAGCATCCCCTCTCCCCACCATTTCAAACTTTCTAGCCACTGGAAAAGAAAAATGGTAGGAAACATTTTAGGATTAAATTATGTCTGCCCTGATTTTCACGAGGATCAGCTGCCTGCATGTCCATATAAGGTTGTCTATACTACTGGCAATTCTACAGATTTCAGTTTCTACACCAAACGGCTCTGGTGAGCACGTCATTTTTCCGGGCAGGGACCTTCCTGAGCGCAGCCTACCCCAGGGGCTCAGGCTGACTTAGCAGTGTGCCTCTCTCCTGCCACAGGCAATCCCTCCCCCTCCCCAGGCTCGCACACAGCCGGTGGGAGCAAGCACACGGGAGAATCATGCTTTCCCCTTTCCCCCGAAACCAGGCGTCTGAGTTACAATGCACACTACAGCGTTCTGAAGAGAGGCAGCAGCGATGTATTTTATTGATTTAACAAAGAAAAAAGAAAAGCACATTTATGGAGATCTTGTTAAACTTTAATAATCCGGCCAATTTAAAATCTCCATTACGCTGATGAGCACCCGGGACCTGAACGAAGCTCTCGGAGAGTTTAAAAGCCTCCAAAGGCGACCAAGAGCCAGGTCTGGCCGTTTGCCCAAATCCCAAACGCCCGAAGGAAACTACTTAGATCAATTTCAATCACGTCCTAGGG
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Task1_train_13635
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This gene mutation involves KLF6 (KLF transcription factor 6) on Chromosome 10. Is it associated with any clinical condition, or is it benign?
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Pathogenic; Prostate cancer, somatic
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TCAGGTGTATGTGGAACAGTTCTTCCTAACCATGGACAATGAGCACACCAGAAACTTTCTAAAAAGTCCCAGGCTTGAAAAGAAATGTTCACACATAGGAAACTGCATGCCTTCCTTCGAATGTGCCCTGCACACCTACTCAACCCTGGTCATCACATTCCCAAGGCCCCACGCTCCTTGCCCAGCATTGTCCTCAGGCACGTACCTGTCACAGTGGGAGCATTTAAAAGGCTTGGCCCCGGTGTGCTTTCGGAAGTGCCTGGTTAACTCATCACTTCTTGCAAAACGCCACTCACACCCTTCCCATGAGCATCTGTAAGGCTTTTCTCCTGGGGAGAGAGCACAGGACAAGCAGCCCATGACTTCACTGACCCGCAGACGGAAAGGGGAAATTCAACAACACACACAGTGGTGGGATGCAAGGCCAGGGACCCAGTGGCTTCTGGCATCGGTAACACACAACAACTGGCAGCCTCAGAGAGACAACAGCAGCTCTCTCCTGACCCAGTCTCAGGCCTCCCACTGCTGTCCAAGGGACACAGCTTCAGCCAAGCCCATGGTGCTGTCATCAAAGTTAACGTGGAAGAACGACCACGACTCAGACCAGCAAAATGCTTGCGGGATGAGGTGTCAGCCTGCCGGACCCACAGCCCCGGCAAAGGCAGAGCTATTGCTTTCTTCATGGCAACTGTTTCTCCCAAACACACTTCTGTTCCATCCTCACTTCCCTATGGAATGTGCCTCTGCAGTTTCCTCAGGGACGTTCTACCTTTCTACAAAGCTGAAGTTACGAGCTTCTGGAAAGCCCCAGTACAGGGCCCCGGAATCATTCTCTAAATGGCAATTGAACAACTGGGTTCACTTCATTCCTTGGTCAAATCATAAATATGAATTTACTACAAGTGCTACCTGAGAAAACAAAGTTGTCAAGCCAATCTCAGGGTATGTTGAGACAGGCCTGGGCCTGGATATTGGGCCACCCGGATCTCAATCTCAGCTGTCACCAAGCCTGTCTGGGACTGACTCTCAGCAATTTGCTCTCCTACTGATAAGAGAAGAGCCTGCATCACGTGATCACTAAGACCCTTCCCAGTTCTAAATGTTCTGTGATTCCTCACCAATTATCCTAGAACATGTCAAGGTATTTTTAAATAGCACTTTCACCTAGGTATGGCATTTCATTAAGAAACTGTTTCAAGCGGTATCAGAAACAAAGGCTGCATGAGACACGGAGAAGTTCTCAGGAAACACTCGCTGATCAATGCTGCTGCTTACAGAGCAGGCCGGTCCCACTCGGGCCTCGGGCCGTCAGCATCAAACCCACACACTCCACGCTGCCCAGCAACCCTCTGTCCTGACCCTTGAGTTTCATTTAGGAAACCCCAGGGCCGCTCGAGGTAGCCTCGTGCGAGTGCACTGGTGAAGGGGCAGTGGCCTCGGATCCCCAGCACTACTAAGGGGTGGGGGGTGGAGGTTTGGGTGTCCGTGGAGAAAAGGATCTAGTCTCTTGTTTGTTTAATCTGAAAATTGTTACACATTTATCCAACTCAAAAGTCCAGTCTTTAGGATTCTACTCTGAACTCCAAAAAGACCTAATGCTTTGGTGGAAAACATCTGAGGAAGTGAGGATTTGTCTGCCCTGACCACATCCTGTGCAGCCAGGCCCGGCTCCCTCCAGGGCTGGTGCAATGCAGTGGCGCCCACCAGCGGCCGCCCTCCGGGGCCCGCGTGGGCACTGACCTGTGTGCGTCCGCTGGTGTGCTTTCAAGTGGGAGCTTTTGGTGTAAACTTTCCTGCAGCCGTTAAAGTGGCACCGGTGCACCCTCCTCCTGCCGTCGGGGGAGGCATCGCCATTTCCCTTGTCACCTGGCTTCCCCGAAGTCCCGCTGCGCACCTTCCCTGGCGAGGGCAGCTCCCCGGGCACGCAACCCCACAGTTGAGAAGGTTCCCTGCTCAGTTCCGGAGAAGATGGAGGCGTGGAGGTGACAGAGGAGCTCAATTTTCCCGAGCTGACCAAAACTTCGCCAATGGGGTCGGAGGTAAACTTGGCCGTGGGAGAAAGTTCCTCGGAGCTGTCAGAGGATTCGCTGCTGACATCTGAGTTCAGGCTGTTGGTCTCTAAGTTGTAACAAAAGCTCGGGCTGATGAGAGTGTCCTCTGGAGGACTGGAAGATATCTTCAGTTCGGATTCCTCCTTTTTCTCCCGAGCCAGAATGATTTTGGTCCACAGATCTTCCTGGCTGTCAAATTTGATTTCTGAGGCTGAAACATAGCAGGGCTCGCTCTGGAGGTAACGTTCCAGCTCTAGGCAGGTCTGTGCAAAATGAACCAGAGAAGGCACGTGATTGCCATGACGACCAAAAGTAAAAGCAAAAGCAATTTCCAAAAACATGCAAGAATGAAGGACAGATAACATTGCTGCCCGGTCACTACAGGGGCAAAACCTTTTGTAATTAAGCATCCGTGTCCTTACGGAAGTTAGAGGAAATCTGTTTCTAGAATGGTAAGAATTCAGAGGAAAAGTCGGAGGGTGAAACCTCTCCTGGCTTTCCCAATGTTGGGCCAAGGGCCACAATGAGTGATGATCACTAAGCCGGTTTTTTTGTTGTAGTTACCAGTGTTGATGTTTCTCATGAAACCAGAGGAAGAGAACCGGCCCCATACACATACTCCTCCCCAACAGGTTCAACCAGATTATCTGACATTGTCAAGAACCATGTGTTTTAAGGAAAGCCCCAGCCATCCACCCTTCACACTCCACAGATACCCACACAGGACAGAAAGACTGCACGGCACACAGCGTGTTCTGAGGGACCCCCTTGGGGACACGGCTGACAACACAGGGCCACACTCGGGGGAGAGGAGACAGCAGCTGTCTGTATTCAGGGGCATCGAATGGAGCTGCAGAAAAACCACCCATTTCCTGTGTAGCCCAGACCGCCTATGTTTTCACAGAATGCCGTTCCCAAGTGCAGGCCCTTGCATGACACAGAACTTTAATTACTTCTACAGTGGTCAGAGAAAAACAAGGAACTTCAACAACAGGAGTGCAGAAATAATTCCAGCATGGCCATCTGCTATTGTGAAGGGTGCAAGGGGAAATTACTCCACGGCCCTGCTGGGAGTCCCACAATGAACAAGAACTTTATCTACTGGCCAAGAGTACAACTGCATGAGTCATCACTCTGATTTCTTTCACGCAATGCCAAAGGAGACTTCCTTTTGAAATTCTCATCAGCAGCCAAATAAGGACCCAGCTCAAATGGACATGCAGTGTGGCATGGACAGTACCCCTTCCCCAGCCCCGCAACCAACCTTTCAAGAAGCTACAACTGCCGAGATCAGCATCCCCTCTCCCCACCATTTCAAACTTTCTAGCCACTGGAAAAGAAAAATGGTAGGAAACATTTTAGGATTAAATTATGTCTGCCCTGATTTTCACGAGGATCAGCTGCCTGCATGTCCATATAAGGTTGTCTATACTACTGGCAATTCTACAGATTTCAGTTTCTACACCAAACGGCTCTGGTGAGCACGTCATTTTTCCGGGCAGGGACCTTCCTGAGCGCAGCCTACCCCAGGGGCTCAGGCTGACTTAGCAGTGTGCCTCTCTCCTGCCACAGGCAATCCCTCCCCCTCCCCAGGCTCGCACACAGCCGGTGGGAGCAAGCACACGGGAGAATCATGCTTTCCCCTTTCCCCCGAAACCAGGCGTCTGAGTTACAATGCACACTACAGCGTTCTGAAGAGAGGCAGCAGCGATGTATTTTATTGATTTAACAAAGAAAAAAGAAAAGCACATTTATGGAGATCTTGTTAAACTTTAATAATCCGGCCAATTTAAAATCTCCATTACGCTGATGAGCACCCGGGACCTGAACGAAGCTCTCGGAGAGTTTAAAAGCCTCCAAAGGCGACCAAGAGCCAGGTCTGGCCGTTTGCCCAAATCCCAAACGCCCGAAGGAAACTACTTAGATCAATTTCAATCACGTCCTAGGGAGCAGCTTCTTTGAGGAGGAAAAAAACAGGAGGGGGAGGGGGAAAAGGCAGGAGAGGACTGTGAACAATTAAGCAGGCGTGTGAAGGTTGCAACACC
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TCAGGTGTATGTGGAACAGTTCTTCCTAACCATGGACAATGAGCACACCAGAAACTTTCTAAAAAGTCCCAGGCTTGAAAAGAAATGTTCACACATAGGAAACTGCATGCCTTCCTTCGAATGTGCCCTGCACACCTACTCAACCCTGGTCATCACATTCCCAAGGCCCCACGCTCCTTGCCCAGCATTGTCCTCAGGCACGTACCTGTCACAGTGGGAGCATTTAAAAGGCTTGGCCCCGGTGTGCTTTCGGAAGTGCCTGGTTAACTCATCACTTCTTGCAAAACGCCACTCACACCCTTCCCATGAGCATCTGTAAGGCTTTTCTCCTGGGGAGAGAGCACAGGACAAGCAGCCCATGACTTCACTGACCCGCAGACGGAAAGGGGAAATTCAACAACACACACAGTGGTGGGATGCAAGGCCAGGGACCCAGTGGCTTCTGGCATCGGTAACACACAACAACTGGCAGCCTCAGAGAGACAACAGCAGCTCTCTCCTGACCCAGTCTCAGGCCTCCCACTGCTGTCCAAGGGACACAGCTTCAGCCAAGCCCATGGTGCTGTCATCAAAGTTAACGTGGAAGAACGACCACGACTCAGACCAGCAAAATGCTTGCGGGATGAGGTGTCAGCCTGCCGGACCCACAGCCCCGGCAAAGGCAGAGCTATTGCTTTCTTCATGGCAACTGTTTCTCCCAAACACACTTCTGTTCCATCCTCACTTCCCTATGGAATGTGCCTCTGCAGTTTCCTCAGGGACGTTCTACCTTTCTACAAAGCTGAAGTTACGAGCTTCTGGAAAGCCCCAGTACAGGGCCCCGGAATCATTCTCTAAATGGCAATTGAACAACTGGGTTCACTTCATTCCTTGGTCAAATCATAAATATGAATTTACTACAAGTGCTACCTGAGAAAACAAAGTTGTCAAGCCAATCTCAGGGTATGTTGAGACAGGCCTGGGCCTGGATATTGGGCCACCCGGATCTCAATCTCAGCTGTCACCAAGCCTGTCTGGGACTGACTCTCAGCAATTTGCTCTCCTACTGATAAGAGAAGAGCCTGCATCACGTGATCACTAAGACCCTTCCCAGTTCTAAATGTTCTGTGATTCCTCACCAATTATCCTAGAACATGTCAAGGTATTTTTAAATAGCACTTTCACCTAGGTATGGCATTTCATTAAGAAACTGTTTCAAGCGGTATCAGAAACAAAGGCTGCATGAGACACGGAGAAGTTCTCAGGAAACACTCGCTGATCAATGCTGCTGCTTACAGAGCAGGCCGGTCCCACTCGGGCCTCGGGCCGTCAGCATCAAACCCACACACTCCACGCTGCCCAGCAACCCTCTGTCCTGACCCTTGAGTTTCATTTAGGAAACCCCAGGGCCGCTCGAGGTAGCCTCGTGCGAGTGCACTGGTGAAGGGGCAGTGGCCTCGGATCCCCAGCACTACTAAGGGGTGGGGGGTGGAGGTTTGGGTGTCCGTGGAGAAAAGGATCTAGTCTCTTGTTTGTTTAATCTGAAAATTGTTACACATTTATCCAACTCAAAAGTCCAGTCTTTAGGATTCTACTCTGAACTCCAAAAAGACCTAATGCTTTGGTGGAAAACATCTGAGGAAGTGAGGATTTGTCTGCCCTGACCACATCCTGTGCAGCCAGGCCCGGCTCCCTCCAGGGCTGGTGCAATGCAGTGGCGCCCACCAGCGGCCGCCCTCCGGGGCCCGCGTGGGCACTGACCTGTGTGCGTCCGCTGGTGTGCTTTCAAGTGGGAGCTTTTGGTGTAAACTTTCCTGCAGCCGTTAAAGTGGCACCGGTGCACCCTCCTCCTGCCGTCGGGGGAGGCATCGCCATTTCCCTTGTCACCTGGCTTCCCCGAAGTCCCGCTGCGCACCTTCCCTGGCGAGGGCAGCTCCCCGGGCACGCAACCCCACAGTTGAGAAGGTTCCCTGCTCAGTTCCGGAGAAGATGGAGGCGTGGAGGTGACAGAGGAGCTCAATTTTCCCGAGCTGACCAAAACTTCGCCAATGGGGTCGGAGGTAAACTTGTCCGTGGGAGAAAGTTCCTCGGAGCTGTCAGAGGATTCGCTGCTGACATCTGAGTTCAGGCTGTTGGTCTCTAAGTTGTAACAAAAGCTCGGGCTGATGAGAGTGTCCTCTGGAGGACTGGAAGATATCTTCAGTTCGGATTCCTCCTTTTTCTCCCGAGCCAGAATGATTTTGGTCCACAGATCTTCCTGGCTGTCAAATTTGATTTCTGAGGCTGAAACATAGCAGGGCTCGCTCTGGAGGTAACGTTCCAGCTCTAGGCAGGTCTGTGCAAAATGAACCAGAGAAGGCACGTGATTGCCATGACGACCAAAAGTAAAAGCAAAAGCAATTTCCAAAAACATGCAAGAATGAAGGACAGATAACATTGCTGCCCGGTCACTACAGGGGCAAAACCTTTTGTAATTAAGCATCCGTGTCCTTACGGAAGTTAGAGGAAATCTGTTTCTAGAATGGTAAGAATTCAGAGGAAAAGTCGGAGGGTGAAACCTCTCCTGGCTTTCCCAATGTTGGGCCAAGGGCCACAATGAGTGATGATCACTAAGCCGGTTTTTTTGTTGTAGTTACCAGTGTTGATGTTTCTCATGAAACCAGAGGAAGAGAACCGGCCCCATACACATACTCCTCCCCAACAGGTTCAACCAGATTATCTGACATTGTCAAGAACCATGTGTTTTAAGGAAAGCCCCAGCCATCCACCCTTCACACTCCACAGATACCCACACAGGACAGAAAGACTGCACGGCACACAGCGTGTTCTGAGGGACCCCCTTGGGGACACGGCTGACAACACAGGGCCACACTCGGGGGAGAGGAGACAGCAGCTGTCTGTATTCAGGGGCATCGAATGGAGCTGCAGAAAAACCACCCATTTCCTGTGTAGCCCAGACCGCCTATGTTTTCACAGAATGCCGTTCCCAAGTGCAGGCCCTTGCATGACACAGAACTTTAATTACTTCTACAGTGGTCAGAGAAAAACAAGGAACTTCAACAACAGGAGTGCAGAAATAATTCCAGCATGGCCATCTGCTATTGTGAAGGGTGCAAGGGGAAATTACTCCACGGCCCTGCTGGGAGTCCCACAATGAACAAGAACTTTATCTACTGGCCAAGAGTACAACTGCATGAGTCATCACTCTGATTTCTTTCACGCAATGCCAAAGGAGACTTCCTTTTGAAATTCTCATCAGCAGCCAAATAAGGACCCAGCTCAAATGGACATGCAGTGTGGCATGGACAGTACCCCTTCCCCAGCCCCGCAACCAACCTTTCAAGAAGCTACAACTGCCGAGATCAGCATCCCCTCTCCCCACCATTTCAAACTTTCTAGCCACTGGAAAAGAAAAATGGTAGGAAACATTTTAGGATTAAATTATGTCTGCCCTGATTTTCACGAGGATCAGCTGCCTGCATGTCCATATAAGGTTGTCTATACTACTGGCAATTCTACAGATTTCAGTTTCTACACCAAACGGCTCTGGTGAGCACGTCATTTTTCCGGGCAGGGACCTTCCTGAGCGCAGCCTACCCCAGGGGCTCAGGCTGACTTAGCAGTGTGCCTCTCTCCTGCCACAGGCAATCCCTCCCCCTCCCCAGGCTCGCACACAGCCGGTGGGAGCAAGCACACGGGAGAATCATGCTTTCCCCTTTCCCCCGAAACCAGGCGTCTGAGTTACAATGCACACTACAGCGTTCTGAAGAGAGGCAGCAGCGATGTATTTTATTGATTTAACAAAGAAAAAAGAAAAGCACATTTATGGAGATCTTGTTAAACTTTAATAATCCGGCCAATTTAAAATCTCCATTACGCTGATGAGCACCCGGGACCTGAACGAAGCTCTCGGAGAGTTTAAAAGCCTCCAAAGGCGACCAAGAGCCAGGTCTGGCCGTTTGCCCAAATCCCAAACGCCCGAAGGAAACTACTTAGATCAATTTCAATCACGTCCTAGGGAGCAGCTTCTTTGAGGAGGAAAAAAACAGGAGGGGGAGGGGGAAAAGGCAGGAGAGGACTGTGAACAATTAAGCAGGCGTGTGAAGGTTGCAACACC
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Task1_train_13636
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A mutation on Chromosome 10 affecting KLF6 (KLF transcription factor 6) has been found. Is it harmful or harmless? What disease, if any, does it cause?
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Pathogenic; Prostate cancer, somatic
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TTCCTAACCATGGACAATGAGCACACCAGAAACTTTCTAAAAAGTCCCAGGCTTGAAAAGAAATGTTCACACATAGGAAACTGCATGCCTTCCTTCGAATGTGCCCTGCACACCTACTCAACCCTGGTCATCACATTCCCAAGGCCCCACGCTCCTTGCCCAGCATTGTCCTCAGGCACGTACCTGTCACAGTGGGAGCATTTAAAAGGCTTGGCCCCGGTGTGCTTTCGGAAGTGCCTGGTTAACTCATCACTTCTTGCAAAACGCCACTCACACCCTTCCCATGAGCATCTGTAAGGCTTTTCTCCTGGGGAGAGAGCACAGGACAAGCAGCCCATGACTTCACTGACCCGCAGACGGAAAGGGGAAATTCAACAACACACACAGTGGTGGGATGCAAGGCCAGGGACCCAGTGGCTTCTGGCATCGGTAACACACAACAACTGGCAGCCTCAGAGAGACAACAGCAGCTCTCTCCTGACCCAGTCTCAGGCCTCCCACTGCTGTCCAAGGGACACAGCTTCAGCCAAGCCCATGGTGCTGTCATCAAAGTTAACGTGGAAGAACGACCACGACTCAGACCAGCAAAATGCTTGCGGGATGAGGTGTCAGCCTGCCGGACCCACAGCCCCGGCAAAGGCAGAGCTATTGCTTTCTTCATGGCAACTGTTTCTCCCAAACACACTTCTGTTCCATCCTCACTTCCCTATGGAATGTGCCTCTGCAGTTTCCTCAGGGACGTTCTACCTTTCTACAAAGCTGAAGTTACGAGCTTCTGGAAAGCCCCAGTACAGGGCCCCGGAATCATTCTCTAAATGGCAATTGAACAACTGGGTTCACTTCATTCCTTGGTCAAATCATAAATATGAATTTACTACAAGTGCTACCTGAGAAAACAAAGTTGTCAAGCCAATCTCAGGGTATGTTGAGACAGGCCTGGGCCTGGATATTGGGCCACCCGGATCTCAATCTCAGCTGTCACCAAGCCTGTCTGGGACTGACTCTCAGCAATTTGCTCTCCTACTGATAAGAGAAGAGCCTGCATCACGTGATCACTAAGACCCTTCCCAGTTCTAAATGTTCTGTGATTCCTCACCAATTATCCTAGAACATGTCAAGGTATTTTTAAATAGCACTTTCACCTAGGTATGGCATTTCATTAAGAAACTGTTTCAAGCGGTATCAGAAACAAAGGCTGCATGAGACACGGAGAAGTTCTCAGGAAACACTCGCTGATCAATGCTGCTGCTTACAGAGCAGGCCGGTCCCACTCGGGCCTCGGGCCGTCAGCATCAAACCCACACACTCCACGCTGCCCAGCAACCCTCTGTCCTGACCCTTGAGTTTCATTTAGGAAACCCCAGGGCCGCTCGAGGTAGCCTCGTGCGAGTGCACTGGTGAAGGGGCAGTGGCCTCGGATCCCCAGCACTACTAAGGGGTGGGGGGTGGAGGTTTGGGTGTCCGTGGAGAAAAGGATCTAGTCTCTTGTTTGTTTAATCTGAAAATTGTTACACATTTATCCAACTCAAAAGTCCAGTCTTTAGGATTCTACTCTGAACTCCAAAAAGACCTAATGCTTTGGTGGAAAACATCTGAGGAAGTGAGGATTTGTCTGCCCTGACCACATCCTGTGCAGCCAGGCCCGGCTCCCTCCAGGGCTGGTGCAATGCAGTGGCGCCCACCAGCGGCCGCCCTCCGGGGCCCGCGTGGGCACTGACCTGTGTGCGTCCGCTGGTGTGCTTTCAAGTGGGAGCTTTTGGTGTAAACTTTCCTGCAGCCGTTAAAGTGGCACCGGTGCACCCTCCTCCTGCCGTCGGGGGAGGCATCGCCATTTCCCTTGTCACCTGGCTTCCCCGAAGTCCCGCTGCGCACCTTCCCTGGCGAGGGCAGCTCCCCGGGCACGCAACCCCACAGTTGAGAAGGTTCCCTGCTCAGTTCCGGAGAAGATGGAGGCGTGGAGGTGACAGAGGAGCTCAATTTTCCCGAGCTGACCAAAACTTCGCCAATGGGGTCGGAGGTAAACTTGGCCGTGGGAGAAAGTTCCTCGGAGCTGTCAGAGGATTCGCTGCTGACATCTGAGTTCAGGCTGTTGGTCTCTAAGTTGTAACAAAAGCTCGGGCTGATGAGAGTGTCCTCTGGAGGACTGGAAGATATCTTCAGTTCGGATTCCTCCTTTTTCTCCCGAGCCAGAATGATTTTGGTCCACAGATCTTCCTGGCTGTCAAATTTGATTTCTGAGGCTGAAACATAGCAGGGCTCGCTCTGGAGGTAACGTTCCAGCTCTAGGCAGGTCTGTGCAAAATGAACCAGAGAAGGCACGTGATTGCCATGACGACCAAAAGTAAAAGCAAAAGCAATTTCCAAAAACATGCAAGAATGAAGGACAGATAACATTGCTGCCCGGTCACTACAGGGGCAAAACCTTTTGTAATTAAGCATCCGTGTCCTTACGGAAGTTAGAGGAAATCTGTTTCTAGAATGGTAAGAATTCAGAGGAAAAGTCGGAGGGTGAAACCTCTCCTGGCTTTCCCAATGTTGGGCCAAGGGCCACAATGAGTGATGATCACTAAGCCGGTTTTTTTGTTGTAGTTACCAGTGTTGATGTTTCTCATGAAACCAGAGGAAGAGAACCGGCCCCATACACATACTCCTCCCCAACAGGTTCAACCAGATTATCTGACATTGTCAAGAACCATGTGTTTTAAGGAAAGCCCCAGCCATCCACCCTTCACACTCCACAGATACCCACACAGGACAGAAAGACTGCACGGCACACAGCGTGTTCTGAGGGACCCCCTTGGGGACACGGCTGACAACACAGGGCCACACTCGGGGGAGAGGAGACAGCAGCTGTCTGTATTCAGGGGCATCGAATGGAGCTGCAGAAAAACCACCCATTTCCTGTGTAGCCCAGACCGCCTATGTTTTCACAGAATGCCGTTCCCAAGTGCAGGCCCTTGCATGACACAGAACTTTAATTACTTCTACAGTGGTCAGAGAAAAACAAGGAACTTCAACAACAGGAGTGCAGAAATAATTCCAGCATGGCCATCTGCTATTGTGAAGGGTGCAAGGGGAAATTACTCCACGGCCCTGCTGGGAGTCCCACAATGAACAAGAACTTTATCTACTGGCCAAGAGTACAACTGCATGAGTCATCACTCTGATTTCTTTCACGCAATGCCAAAGGAGACTTCCTTTTGAAATTCTCATCAGCAGCCAAATAAGGACCCAGCTCAAATGGACATGCAGTGTGGCATGGACAGTACCCCTTCCCCAGCCCCGCAACCAACCTTTCAAGAAGCTACAACTGCCGAGATCAGCATCCCCTCTCCCCACCATTTCAAACTTTCTAGCCACTGGAAAAGAAAAATGGTAGGAAACATTTTAGGATTAAATTATGTCTGCCCTGATTTTCACGAGGATCAGCTGCCTGCATGTCCATATAAGGTTGTCTATACTACTGGCAATTCTACAGATTTCAGTTTCTACACCAAACGGCTCTGGTGAGCACGTCATTTTTCCGGGCAGGGACCTTCCTGAGCGCAGCCTACCCCAGGGGCTCAGGCTGACTTAGCAGTGTGCCTCTCTCCTGCCACAGGCAATCCCTCCCCCTCCCCAGGCTCGCACACAGCCGGTGGGAGCAAGCACACGGGAGAATCATGCTTTCCCCTTTCCCCCGAAACCAGGCGTCTGAGTTACAATGCACACTACAGCGTTCTGAAGAGAGGCAGCAGCGATGTATTTTATTGATTTAACAAAGAAAAAAGAAAAGCACATTTATGGAGATCTTGTTAAACTTTAATAATCCGGCCAATTTAAAATCTCCATTACGCTGATGAGCACCCGGGACCTGAACGAAGCTCTCGGAGAGTTTAAAAGCCTCCAAAGGCGACCAAGAGCCAGGTCTGGCCGTTTGCCCAAATCCCAAACGCCCGAAGGAAACTACTTAGATCAATTTCAATCACGTCCTAGGGAGCAGCTTCTTTGAGGAGGAAAAAAACAGGAGGGGGAGGGGGAAAAGGCAGGAGAGGACTGTGAACAATTAAGCAGGCGTGTGAAGGTTGCAACACCCTGCATTTCATCTTCCTTAAAG
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TTCCTAACCATGGACAATGAGCACACCAGAAACTTTCTAAAAAGTCCCAGGCTTGAAAAGAAATGTTCACACATAGGAAACTGCATGCCTTCCTTCGAATGTGCCCTGCACACCTACTCAACCCTGGTCATCACATTCCCAAGGCCCCACGCTCCTTGCCCAGCATTGTCCTCAGGCACGTACCTGTCACAGTGGGAGCATTTAAAAGGCTTGGCCCCGGTGTGCTTTCGGAAGTGCCTGGTTAACTCATCACTTCTTGCAAAACGCCACTCACACCCTTCCCATGAGCATCTGTAAGGCTTTTCTCCTGGGGAGAGAGCACAGGACAAGCAGCCCATGACTTCACTGACCCGCAGACGGAAAGGGGAAATTCAACAACACACACAGTGGTGGGATGCAAGGCCAGGGACCCAGTGGCTTCTGGCATCGGTAACACACAACAACTGGCAGCCTCAGAGAGACAACAGCAGCTCTCTCCTGACCCAGTCTCAGGCCTCCCACTGCTGTCCAAGGGACACAGCTTCAGCCAAGCCCATGGTGCTGTCATCAAAGTTAACGTGGAAGAACGACCACGACTCAGACCAGCAAAATGCTTGCGGGATGAGGTGTCAGCCTGCCGGACCCACAGCCCCGGCAAAGGCAGAGCTATTGCTTTCTTCATGGCAACTGTTTCTCCCAAACACACTTCTGTTCCATCCTCACTTCCCTATGGAATGTGCCTCTGCAGTTTCCTCAGGGACGTTCTACCTTTCTACAAAGCTGAAGTTACGAGCTTCTGGAAAGCCCCAGTACAGGGCCCCGGAATCATTCTCTAAATGGCAATTGAACAACTGGGTTCACTTCATTCCTTGGTCAAATCATAAATATGAATTTACTACAAGTGCTACCTGAGAAAACAAAGTTGTCAAGCCAATCTCAGGGTATGTTGAGACAGGCCTGGGCCTGGATATTGGGCCACCCGGATCTCAATCTCAGCTGTCACCAAGCCTGTCTGGGACTGACTCTCAGCAATTTGCTCTCCTACTGATAAGAGAAGAGCCTGCATCACGTGATCACTAAGACCCTTCCCAGTTCTAAATGTTCTGTGATTCCTCACCAATTATCCTAGAACATGTCAAGGTATTTTTAAATAGCACTTTCACCTAGGTATGGCATTTCATTAAGAAACTGTTTCAAGCGGTATCAGAAACAAAGGCTGCATGAGACACGGAGAAGTTCTCAGGAAACACTCGCTGATCAATGCTGCTGCTTACAGAGCAGGCCGGTCCCACTCGGGCCTCGGGCCGTCAGCATCAAACCCACACACTCCACGCTGCCCAGCAACCCTCTGTCCTGACCCTTGAGTTTCATTTAGGAAACCCCAGGGCCGCTCGAGGTAGCCTCGTGCGAGTGCACTGGTGAAGGGGCAGTGGCCTCGGATCCCCAGCACTACTAAGGGGTGGGGGGTGGAGGTTTGGGTGTCCGTGGAGAAAAGGATCTAGTCTCTTGTTTGTTTAATCTGAAAATTGTTACACATTTATCCAACTCAAAAGTCCAGTCTTTAGGATTCTACTCTGAACTCCAAAAAGACCTAATGCTTTGGTGGAAAACATCTGAGGAAGTGAGGATTTGTCTGCCCTGACCACATCCTGTGCAGCCAGGCCCGGCTCCCTCCAGGGCTGGTGCAATGCAGTGGCGCCCACCAGCGGCCGCCCTCCGGGGCCCGCGTGGGCACTGACCTGTGTGCGTCCGCTGGTGTGCTTTCAAGTGGGAGCTTTTGGTGTAAACTTTCCTGCAGCCGTTAAAGTGGCACCGGTGCACCCTCCTCCTGCCGTCGGGGGAGGCATCGCCATTTCCCTTGTCACCTGGCTTCCCCGAAGTCCCGCTGCGCACCTTCCCTGGCGAGGGCAGCTCCCCGGGCACGCAACCCCACAGTTGAGAAGGTTCCCTGCTCAGTTCCGGAGAAGATGGAGGCGTGGAGGTGACAGAGGAGCTCAATTTTCCCGAGCTGACCAAAACTTCGCCAATGGGGTCGGAGGTAAACTTGGCCGTGGGAGAAAGTTCCTCGGGGCTGTCAGAGGATTCGCTGCTGACATCTGAGTTCAGGCTGTTGGTCTCTAAGTTGTAACAAAAGCTCGGGCTGATGAGAGTGTCCTCTGGAGGACTGGAAGATATCTTCAGTTCGGATTCCTCCTTTTTCTCCCGAGCCAGAATGATTTTGGTCCACAGATCTTCCTGGCTGTCAAATTTGATTTCTGAGGCTGAAACATAGCAGGGCTCGCTCTGGAGGTAACGTTCCAGCTCTAGGCAGGTCTGTGCAAAATGAACCAGAGAAGGCACGTGATTGCCATGACGACCAAAAGTAAAAGCAAAAGCAATTTCCAAAAACATGCAAGAATGAAGGACAGATAACATTGCTGCCCGGTCACTACAGGGGCAAAACCTTTTGTAATTAAGCATCCGTGTCCTTACGGAAGTTAGAGGAAATCTGTTTCTAGAATGGTAAGAATTCAGAGGAAAAGTCGGAGGGTGAAACCTCTCCTGGCTTTCCCAATGTTGGGCCAAGGGCCACAATGAGTGATGATCACTAAGCCGGTTTTTTTGTTGTAGTTACCAGTGTTGATGTTTCTCATGAAACCAGAGGAAGAGAACCGGCCCCATACACATACTCCTCCCCAACAGGTTCAACCAGATTATCTGACATTGTCAAGAACCATGTGTTTTAAGGAAAGCCCCAGCCATCCACCCTTCACACTCCACAGATACCCACACAGGACAGAAAGACTGCACGGCACACAGCGTGTTCTGAGGGACCCCCTTGGGGACACGGCTGACAACACAGGGCCACACTCGGGGGAGAGGAGACAGCAGCTGTCTGTATTCAGGGGCATCGAATGGAGCTGCAGAAAAACCACCCATTTCCTGTGTAGCCCAGACCGCCTATGTTTTCACAGAATGCCGTTCCCAAGTGCAGGCCCTTGCATGACACAGAACTTTAATTACTTCTACAGTGGTCAGAGAAAAACAAGGAACTTCAACAACAGGAGTGCAGAAATAATTCCAGCATGGCCATCTGCTATTGTGAAGGGTGCAAGGGGAAATTACTCCACGGCCCTGCTGGGAGTCCCACAATGAACAAGAACTTTATCTACTGGCCAAGAGTACAACTGCATGAGTCATCACTCTGATTTCTTTCACGCAATGCCAAAGGAGACTTCCTTTTGAAATTCTCATCAGCAGCCAAATAAGGACCCAGCTCAAATGGACATGCAGTGTGGCATGGACAGTACCCCTTCCCCAGCCCCGCAACCAACCTTTCAAGAAGCTACAACTGCCGAGATCAGCATCCCCTCTCCCCACCATTTCAAACTTTCTAGCCACTGGAAAAGAAAAATGGTAGGAAACATTTTAGGATTAAATTATGTCTGCCCTGATTTTCACGAGGATCAGCTGCCTGCATGTCCATATAAGGTTGTCTATACTACTGGCAATTCTACAGATTTCAGTTTCTACACCAAACGGCTCTGGTGAGCACGTCATTTTTCCGGGCAGGGACCTTCCTGAGCGCAGCCTACCCCAGGGGCTCAGGCTGACTTAGCAGTGTGCCTCTCTCCTGCCACAGGCAATCCCTCCCCCTCCCCAGGCTCGCACACAGCCGGTGGGAGCAAGCACACGGGAGAATCATGCTTTCCCCTTTCCCCCGAAACCAGGCGTCTGAGTTACAATGCACACTACAGCGTTCTGAAGAGAGGCAGCAGCGATGTATTTTATTGATTTAACAAAGAAAAAAGAAAAGCACATTTATGGAGATCTTGTTAAACTTTAATAATCCGGCCAATTTAAAATCTCCATTACGCTGATGAGCACCCGGGACCTGAACGAAGCTCTCGGAGAGTTTAAAAGCCTCCAAAGGCGACCAAGAGCCAGGTCTGGCCGTTTGCCCAAATCCCAAACGCCCGAAGGAAACTACTTAGATCAATTTCAATCACGTCCTAGGGAGCAGCTTCTTTGAGGAGGAAAAAAACAGGAGGGGGAGGGGGAAAAGGCAGGAGAGGACTGTGAACAATTAAGCAGGCGTGTGAAGGTTGCAACACCCTGCATTTCATCTTCCTTAAAG
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Task1_train_13637
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Gene KLF6 (KLF transcription factor 6), found on Chromosome 10, is impacted by this variant. What is the biological outcome — benign or pathogenic?
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Pathogenic; Prostate cancer, somatic
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TGCCCAGCATTGTCCTCAGGCACGTACCTGTCACAGTGGGAGCATTTAAAAGGCTTGGCCCCGGTGTGCTTTCGGAAGTGCCTGGTTAACTCATCACTTCTTGCAAAACGCCACTCACACCCTTCCCATGAGCATCTGTAAGGCTTTTCTCCTGGGGAGAGAGCACAGGACAAGCAGCCCATGACTTCACTGACCCGCAGACGGAAAGGGGAAATTCAACAACACACACAGTGGTGGGATGCAAGGCCAGGGACCCAGTGGCTTCTGGCATCGGTAACACACAACAACTGGCAGCCTCAGAGAGACAACAGCAGCTCTCTCCTGACCCAGTCTCAGGCCTCCCACTGCTGTCCAAGGGACACAGCTTCAGCCAAGCCCATGGTGCTGTCATCAAAGTTAACGTGGAAGAACGACCACGACTCAGACCAGCAAAATGCTTGCGGGATGAGGTGTCAGCCTGCCGGACCCACAGCCCCGGCAAAGGCAGAGCTATTGCTTTCTTCATGGCAACTGTTTCTCCCAAACACACTTCTGTTCCATCCTCACTTCCCTATGGAATGTGCCTCTGCAGTTTCCTCAGGGACGTTCTACCTTTCTACAAAGCTGAAGTTACGAGCTTCTGGAAAGCCCCAGTACAGGGCCCCGGAATCATTCTCTAAATGGCAATTGAACAACTGGGTTCACTTCATTCCTTGGTCAAATCATAAATATGAATTTACTACAAGTGCTACCTGAGAAAACAAAGTTGTCAAGCCAATCTCAGGGTATGTTGAGACAGGCCTGGGCCTGGATATTGGGCCACCCGGATCTCAATCTCAGCTGTCACCAAGCCTGTCTGGGACTGACTCTCAGCAATTTGCTCTCCTACTGATAAGAGAAGAGCCTGCATCACGTGATCACTAAGACCCTTCCCAGTTCTAAATGTTCTGTGATTCCTCACCAATTATCCTAGAACATGTCAAGGTATTTTTAAATAGCACTTTCACCTAGGTATGGCATTTCATTAAGAAACTGTTTCAAGCGGTATCAGAAACAAAGGCTGCATGAGACACGGAGAAGTTCTCAGGAAACACTCGCTGATCAATGCTGCTGCTTACAGAGCAGGCCGGTCCCACTCGGGCCTCGGGCCGTCAGCATCAAACCCACACACTCCACGCTGCCCAGCAACCCTCTGTCCTGACCCTTGAGTTTCATTTAGGAAACCCCAGGGCCGCTCGAGGTAGCCTCGTGCGAGTGCACTGGTGAAGGGGCAGTGGCCTCGGATCCCCAGCACTACTAAGGGGTGGGGGGTGGAGGTTTGGGTGTCCGTGGAGAAAAGGATCTAGTCTCTTGTTTGTTTAATCTGAAAATTGTTACACATTTATCCAACTCAAAAGTCCAGTCTTTAGGATTCTACTCTGAACTCCAAAAAGACCTAATGCTTTGGTGGAAAACATCTGAGGAAGTGAGGATTTGTCTGCCCTGACCACATCCTGTGCAGCCAGGCCCGGCTCCCTCCAGGGCTGGTGCAATGCAGTGGCGCCCACCAGCGGCCGCCCTCCGGGGCCCGCGTGGGCACTGACCTGTGTGCGTCCGCTGGTGTGCTTTCAAGTGGGAGCTTTTGGTGTAAACTTTCCTGCAGCCGTTAAAGTGGCACCGGTGCACCCTCCTCCTGCCGTCGGGGGAGGCATCGCCATTTCCCTTGTCACCTGGCTTCCCCGAAGTCCCGCTGCGCACCTTCCCTGGCGAGGGCAGCTCCCCGGGCACGCAACCCCACAGTTGAGAAGGTTCCCTGCTCAGTTCCGGAGAAGATGGAGGCGTGGAGGTGACAGAGGAGCTCAATTTTCCCGAGCTGACCAAAACTTCGCCAATGGGGTCGGAGGTAAACTTGGCCGTGGGAGAAAGTTCCTCGGAGCTGTCAGAGGATTCGCTGCTGACATCTGAGTTCAGGCTGTTGGTCTCTAAGTTGTAACAAAAGCTCGGGCTGATGAGAGTGTCCTCTGGAGGACTGGAAGATATCTTCAGTTCGGATTCCTCCTTTTTCTCCCGAGCCAGAATGATTTTGGTCCACAGATCTTCCTGGCTGTCAAATTTGATTTCTGAGGCTGAAACATAGCAGGGCTCGCTCTGGAGGTAACGTTCCAGCTCTAGGCAGGTCTGTGCAAAATGAACCAGAGAAGGCACGTGATTGCCATGACGACCAAAAGTAAAAGCAAAAGCAATTTCCAAAAACATGCAAGAATGAAGGACAGATAACATTGCTGCCCGGTCACTACAGGGGCAAAACCTTTTGTAATTAAGCATCCGTGTCCTTACGGAAGTTAGAGGAAATCTGTTTCTAGAATGGTAAGAATTCAGAGGAAAAGTCGGAGGGTGAAACCTCTCCTGGCTTTCCCAATGTTGGGCCAAGGGCCACAATGAGTGATGATCACTAAGCCGGTTTTTTTGTTGTAGTTACCAGTGTTGATGTTTCTCATGAAACCAGAGGAAGAGAACCGGCCCCATACACATACTCCTCCCCAACAGGTTCAACCAGATTATCTGACATTGTCAAGAACCATGTGTTTTAAGGAAAGCCCCAGCCATCCACCCTTCACACTCCACAGATACCCACACAGGACAGAAAGACTGCACGGCACACAGCGTGTTCTGAGGGACCCCCTTGGGGACACGGCTGACAACACAGGGCCACACTCGGGGGAGAGGAGACAGCAGCTGTCTGTATTCAGGGGCATCGAATGGAGCTGCAGAAAAACCACCCATTTCCTGTGTAGCCCAGACCGCCTATGTTTTCACAGAATGCCGTTCCCAAGTGCAGGCCCTTGCATGACACAGAACTTTAATTACTTCTACAGTGGTCAGAGAAAAACAAGGAACTTCAACAACAGGAGTGCAGAAATAATTCCAGCATGGCCATCTGCTATTGTGAAGGGTGCAAGGGGAAATTACTCCACGGCCCTGCTGGGAGTCCCACAATGAACAAGAACTTTATCTACTGGCCAAGAGTACAACTGCATGAGTCATCACTCTGATTTCTTTCACGCAATGCCAAAGGAGACTTCCTTTTGAAATTCTCATCAGCAGCCAAATAAGGACCCAGCTCAAATGGACATGCAGTGTGGCATGGACAGTACCCCTTCCCCAGCCCCGCAACCAACCTTTCAAGAAGCTACAACTGCCGAGATCAGCATCCCCTCTCCCCACCATTTCAAACTTTCTAGCCACTGGAAAAGAAAAATGGTAGGAAACATTTTAGGATTAAATTATGTCTGCCCTGATTTTCACGAGGATCAGCTGCCTGCATGTCCATATAAGGTTGTCTATACTACTGGCAATTCTACAGATTTCAGTTTCTACACCAAACGGCTCTGGTGAGCACGTCATTTTTCCGGGCAGGGACCTTCCTGAGCGCAGCCTACCCCAGGGGCTCAGGCTGACTTAGCAGTGTGCCTCTCTCCTGCCACAGGCAATCCCTCCCCCTCCCCAGGCTCGCACACAGCCGGTGGGAGCAAGCACACGGGAGAATCATGCTTTCCCCTTTCCCCCGAAACCAGGCGTCTGAGTTACAATGCACACTACAGCGTTCTGAAGAGAGGCAGCAGCGATGTATTTTATTGATTTAACAAAGAAAAAAGAAAAGCACATTTATGGAGATCTTGTTAAACTTTAATAATCCGGCCAATTTAAAATCTCCATTACGCTGATGAGCACCCGGGACCTGAACGAAGCTCTCGGAGAGTTTAAAAGCCTCCAAAGGCGACCAAGAGCCAGGTCTGGCCGTTTGCCCAAATCCCAAACGCCCGAAGGAAACTACTTAGATCAATTTCAATCACGTCCTAGGGAGCAGCTTCTTTGAGGAGGAAAAAAACAGGAGGGGGAGGGGGAAAAGGCAGGAGAGGACTGTGAACAATTAAGCAGGCGTGTGAAGGTTGCAACACCCTGCATTTCATCTTCCTTAAAGCTTTCGAGGCTTGGAAACCCACAGCCTCTATTTGATCTGGCAATTCACTTTGTGACGAAAAACAAACAGCACAGCAGGGCAGGGAGACAACAGTAAACCCTCCTGCGATCGCTGGAGAGACAATGGGAGGAGTGTCAGTCTCTCTCCCCTCGGGCG
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TGCCCAGCATTGTCCTCAGGCACGTACCTGTCACAGTGGGAGCATTTAAAAGGCTTGGCCCCGGTGTGCTTTCGGAAGTGCCTGGTTAACTCATCACTTCTTGCAAAACGCCACTCACACCCTTCCCATGAGCATCTGTAAGGCTTTTCTCCTGGGGAGAGAGCACAGGACAAGCAGCCCATGACTTCACTGACCCGCAGACGGAAAGGGGAAATTCAACAACACACACAGTGGTGGGATGCAAGGCCAGGGACCCAGTGGCTTCTGGCATCGGTAACACACAACAACTGGCAGCCTCAGAGAGACAACAGCAGCTCTCTCCTGACCCAGTCTCAGGCCTCCCACTGCTGTCCAAGGGACACAGCTTCAGCCAAGCCCATGGTGCTGTCATCAAAGTTAACGTGGAAGAACGACCACGACTCAGACCAGCAAAATGCTTGCGGGATGAGGTGTCAGCCTGCCGGACCCACAGCCCCGGCAAAGGCAGAGCTATTGCTTTCTTCATGGCAACTGTTTCTCCCAAACACACTTCTGTTCCATCCTCACTTCCCTATGGAATGTGCCTCTGCAGTTTCCTCAGGGACGTTCTACCTTTCTACAAAGCTGAAGTTACGAGCTTCTGGAAAGCCCCAGTACAGGGCCCCGGAATCATTCTCTAAATGGCAATTGAACAACTGGGTTCACTTCATTCCTTGGTCAAATCATAAATATGAATTTACTACAAGTGCTACCTGAGAAAACAAAGTTGTCAAGCCAATCTCAGGGTATGTTGAGACAGGCCTGGGCCTGGATATTGGGCCACCCGGATCTCAATCTCAGCTGTCACCAAGCCTGTCTGGGACTGACTCTCAGCAATTTGCTCTCCTACTGATAAGAGAAGAGCCTGCATCACGTGATCACTAAGACCCTTCCCAGTTCTAAATGTTCTGTGATTCCTCACCAATTATCCTAGAACATGTCAAGGTATTTTTAAATAGCACTTTCACCTAGGTATGGCATTTCATTAAGAAACTGTTTCAAGCGGTATCAGAAACAAAGGCTGCATGAGACACGGAGAAGTTCTCAGGAAACACTCGCTGATCAATGCTGCTGCTTACAGAGCAGGCCGGTCCCACTCGGGCCTCGGGCCGTCAGCATCAAACCCACACACTCCACGCTGCCCAGCAACCCTCTGTCCTGACCCTTGAGTTTCATTTAGGAAACCCCAGGGCCGCTCGAGGTAGCCTCGTGCGAGTGCACTGGTGAAGGGGCAGTGGCCTCGGATCCCCAGCACTACTAAGGGGTGGGGGGTGGAGGTTTGGGTGTCCGTGGAGAAAAGGATCTAGTCTCTTGTTTGTTTAATCTGAAAATTGTTACACATTTATCCAACTCAAAAGTCCAGTCTTTAGGATTCTACTCTGAACTCCAAAAAGACCTAATGCTTTGGTGGAAAACATCTGAGGAAGTGAGGATTTGTCTGCCCTGACCACATCCTGTGCAGCCAGGCCCGGCTCCCTCCAGGGCTGGTGCAATGCAGTGGCGCCCACCAGCGGCCGCCCTCCGGGGCCCGCGTGGGCACTGACCTGTGTGCGTCCGCTGGTGTGCTTTCAAGTGGGAGCTTTTGGTGTAAACTTTCCTGCAGCCGTTAAAGTGGCACCGGTGCACCCTCCTCCTGCCGTCGGGGGAGGCATCGCCATTTCCCTTGTCACCTGGCTTCCCCGAAGTCCCGCTGCGCACCTTCCCTGGCGAGGGCAGCTCCCCGGGCACGCAACCCCACAGTTGAGAAGGTTCCCTGCTCAGTTCCGGAGAAGATGGAGGCGTGGAGGTGACAGAGGAGCTCAATTTTCCCGAGCTGACCAAAACTTCGCCAATGGGGTCGGAGGTAAACTTGGCCGTGGGAGAAAGTTCCTCGGAGCTGTCAGAGGATTCGCTGCTGACATCTGAGTTCAGGCTGTTGGTCTCTAAGTTGTAACAAAAGCTCGGGCTGATGAGAGTGTCCTCTGGAGGACTGGAAGATATCTTCAGTTCGGATTCCTCCTTTTTCTCCCGAGCCAGAATGATTTTGGTCCGCAGATCTTCCTGGCTGTCAAATTTGATTTCTGAGGCTGAAACATAGCAGGGCTCGCTCTGGAGGTAACGTTCCAGCTCTAGGCAGGTCTGTGCAAAATGAACCAGAGAAGGCACGTGATTGCCATGACGACCAAAAGTAAAAGCAAAAGCAATTTCCAAAAACATGCAAGAATGAAGGACAGATAACATTGCTGCCCGGTCACTACAGGGGCAAAACCTTTTGTAATTAAGCATCCGTGTCCTTACGGAAGTTAGAGGAAATCTGTTTCTAGAATGGTAAGAATTCAGAGGAAAAGTCGGAGGGTGAAACCTCTCCTGGCTTTCCCAATGTTGGGCCAAGGGCCACAATGAGTGATGATCACTAAGCCGGTTTTTTTGTTGTAGTTACCAGTGTTGATGTTTCTCATGAAACCAGAGGAAGAGAACCGGCCCCATACACATACTCCTCCCCAACAGGTTCAACCAGATTATCTGACATTGTCAAGAACCATGTGTTTTAAGGAAAGCCCCAGCCATCCACCCTTCACACTCCACAGATACCCACACAGGACAGAAAGACTGCACGGCACACAGCGTGTTCTGAGGGACCCCCTTGGGGACACGGCTGACAACACAGGGCCACACTCGGGGGAGAGGAGACAGCAGCTGTCTGTATTCAGGGGCATCGAATGGAGCTGCAGAAAAACCACCCATTTCCTGTGTAGCCCAGACCGCCTATGTTTTCACAGAATGCCGTTCCCAAGTGCAGGCCCTTGCATGACACAGAACTTTAATTACTTCTACAGTGGTCAGAGAAAAACAAGGAACTTCAACAACAGGAGTGCAGAAATAATTCCAGCATGGCCATCTGCTATTGTGAAGGGTGCAAGGGGAAATTACTCCACGGCCCTGCTGGGAGTCCCACAATGAACAAGAACTTTATCTACTGGCCAAGAGTACAACTGCATGAGTCATCACTCTGATTTCTTTCACGCAATGCCAAAGGAGACTTCCTTTTGAAATTCTCATCAGCAGCCAAATAAGGACCCAGCTCAAATGGACATGCAGTGTGGCATGGACAGTACCCCTTCCCCAGCCCCGCAACCAACCTTTCAAGAAGCTACAACTGCCGAGATCAGCATCCCCTCTCCCCACCATTTCAAACTTTCTAGCCACTGGAAAAGAAAAATGGTAGGAAACATTTTAGGATTAAATTATGTCTGCCCTGATTTTCACGAGGATCAGCTGCCTGCATGTCCATATAAGGTTGTCTATACTACTGGCAATTCTACAGATTTCAGTTTCTACACCAAACGGCTCTGGTGAGCACGTCATTTTTCCGGGCAGGGACCTTCCTGAGCGCAGCCTACCCCAGGGGCTCAGGCTGACTTAGCAGTGTGCCTCTCTCCTGCCACAGGCAATCCCTCCCCCTCCCCAGGCTCGCACACAGCCGGTGGGAGCAAGCACACGGGAGAATCATGCTTTCCCCTTTCCCCCGAAACCAGGCGTCTGAGTTACAATGCACACTACAGCGTTCTGAAGAGAGGCAGCAGCGATGTATTTTATTGATTTAACAAAGAAAAAAGAAAAGCACATTTATGGAGATCTTGTTAAACTTTAATAATCCGGCCAATTTAAAATCTCCATTACGCTGATGAGCACCCGGGACCTGAACGAAGCTCTCGGAGAGTTTAAAAGCCTCCAAAGGCGACCAAGAGCCAGGTCTGGCCGTTTGCCCAAATCCCAAACGCCCGAAGGAAACTACTTAGATCAATTTCAATCACGTCCTAGGGAGCAGCTTCTTTGAGGAGGAAAAAAACAGGAGGGGGAGGGGGAAAAGGCAGGAGAGGACTGTGAACAATTAAGCAGGCGTGTGAAGGTTGCAACACCCTGCATTTCATCTTCCTTAAAGCTTTCGAGGCTTGGAAACCCACAGCCTCTATTTGATCTGGCAATTCACTTTGTGACGAAAAACAAACAGCACAGCAGGGCAGGGAGACAACAGTAAACCCTCCTGCGATCGCTGGAGAGACAATGGGAGGAGTGTCAGTCTCTCTCCCCTCGGGCG
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Task1_train_13638
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Here is a mutation in AKR1C2 (aldo-keto reductase family 1 member C2) on Chromosome 10. Determine whether it’s benign or pathogenic. If the latter, what disease does it cause?
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Pathogenic; 46,XY disorder of sex development due to testicular 17,20-desmolase deficiency
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AAATGAAAAACAAAATTATTGTCTTTCTTTTCCGGCCGATGGGCTTAGCTGTAGCTTACTGAAGTCGCCAAGCAGGAGAGATTTAACCAGAGGCGATGTGTCCAGTCACCAGCATAGAGCCATCCTCTGTGTCACCATCCACACGCAGGGCCTTCTGGCAGACCTCATGCAATGCCCTCCATGTTAATATTCATCAGAAAATGGATAATTAGGGGGGCCAGCAAAACTGGAAAGAGAAAAAAAAATGCACACTCTGAATGGCAATGACTCCGTTACTAGCCCGTAGCGCAGTGATTTCTAGGAAGCTGCCGCTAGTGTAGATGTTAAGAAGTTCATTTTCTGACTGCTCTAGAATCTGTGTTTCTTTGTTTAATGAACGTGACTTTATCATATCTGTATTTTCAAAATAAAGAATAATTTAATTCTATTCCCCTGCCTGGAACTTAACACATAAAACACACAAAGTGAAATGTTCAAACATGTTTCTCTACATCTCTCAACAACAGATCCCACATCTGTCAACAAAGAGATATTCTGACCTTTTCTATTTCAAATTCTCACTAAAAACAGGAACTCCTTCTGCCTTACATTGAAGAGGAATAAGGAAGATATATGCTCATCACTAATAAACAATTTTGAGTGTGATAATTATACTGGTAGTAATTGTACTTTATTTTATTACTTTACATATTACTTACTACCTGCCTATCATACGCAACACACTTGGTTAGATTAGAAACGTAAATTATTGTTTATGTTATAGGGCCCAATATTCAAAGAGCTACAATGCATAAACCATTTTATAGGTAGACATAATCCAAAATGTAAAGACACAGATAAATGACTGCTCACATATACAGTTATAACTTGTTAATTACGGAATTGAGCCTATCCTTTGTGATTACACCGAGAGCAAACACTTGGAAGCTCGCAAGTGGTTTACTCCAGACCATATTTGAGTTCTACAAAATAACACTAGTGATTGATTTCATGATCATAAAAAACATTAATCAGTTGTAAACATTTCTAATGCTTGCCACTTTTCCTTTTCTTATTATCATTTCCATTTTCATTTTGTATTTTCTGCTAAGTGGATAAAATACTACTAATAATATCCACCAAATTTTGGGTACTTATGATGTACCATTGTGCTTGTTTTTTTCACACATTATCTCATCATCTCTATTACTTGTTAAAATCTCCACTGCCATCAGTTACATAACTTCTTTTTCCCTCATTATTTGAATGACCTTCTATGAATCCTAGAACCTTAGAATATAGAGGAATAGTAAACGTCTGTTACTGGTTATAAATTATCTCCAATAATGGTGCTTTTGCATCTACACTCTGCATTTGATTTTAACACTTCCTCATTCTCTACACTGAGATCTCCATATTGCAGAACACCAAGGCCAAGTGCTCCTATTCGCTCCACTAAGACAGACTTTCTGGAGGCAAATGCAGTATTTGGCTCATGGGCAAACATGCAAAGAAAGGCACGAAAAAGGTTTGAAATGATTAAAAATGCTAAATTGACAGGATCCAGCAAGCAATTCCATGTGAAAGAGGTGGGAATTGGAACCTGGCCCACAAGATTGACGGAACTGCCTTTGATCTGGTAAGACATTGAGCAGGTTGGGAAGAACAAGATAGAAGCACAGATTTGGAAACATCTAATGCGACCACATGGGCCATATCCACAGTGTGTACACTAGACAGTAATACAAACGGCAGGCCTACATGGAAGGTGCAGATTCAGCAATGATCTTGGCTGCTCTGGAAAGTTCCTTGGAGTCACGAGAGCAGAGGCACAGGTTGACCCATGCTGACCCCAGGCCACTCTCCCTGCCAGAGAACAGAGCTCTGGAGTGAATCCAGGAGGAGACTTCCAGAAAGCTCCTGTCTCACCTCTGTCTCACGTTGGCCTCTGTGCCCCTGGTGTGGAGGTCACTCTCAACACCCATCCTACGTTCCTCCTCTGAAAATAAATTAGGACAACCATCTCCAAAATTACTTACATATCAAGGGTCAAATATCGCACATTTCTGTTTAGGCCATCTATGGCTTTCATCTCCTCTGAAGTCAACTGGAATTCAAACACCTATCAAAGTAATAGAAAACTTTAATTATTTTTAGATTACATCATTGCCAATTGGGAACAACCAAGTTCATCAGACAGTAGGGTGCAGAGACAATACTTAAAAGATTGATACGTTTCCAAAATTTATGAAAGACCTCTCTAAACACCCAAGTGGTCAATGAAAACCAGTCAAAAATAAGCAGAAATCCATTCCCAGATAAAATATTTTGAAACTGCACAACACTGCAGATGAAGAGAATATCTCAGAGGAAGCTGAAGAAGAAACAGAGCTTACTTTGTGCCCACATGATAGGGCCATGTACCTAGAAGACCCACAAGAATCTAGAGGCAAATTTTGTAATGTCTAGCATAATTTAGTAGGTTTGATGAATAACATTGAATATCTATCTCTCCAATGAACAGGTATAATAGGAAAAATCAGTTTTCAACATCACTCAAGCCAATAATTGTCTAAATACTAACGATTTCACATTCAAAAGGTGTGGGTACTCACTATGTAAATTTGGGAGACTCTAAATATCAAAAAGATGTCACTCTTTCTAATACATTCAATCAAATAAGTGTATAAATCCATAGGGAAACTGAAGGAGTAATACAGAAAATGAGAGAAAGAGAGTAAAAAATGACAGCAATGTAACACTTGATGAATGTAGGTAAGAAGATTTGTTGCATTATTCTTTTAATATTTCTATATATTAGAAAATCCACAAAATGAAAATGAAAAGTTATCAAAAACTATTAAAATTATCAGTAATTGCCGGGCACGTTGGCTCACGCCTATAATCCTAGCACTTTGGGAGGCCAGCGCAGGAGGATTGCCTGATTTCAGGAGTTAGAGAACAGCCTGGGCAACACAGTGAAACCCGTCTCTACTAAAATACAAAAAATTAGCTGGGCATGGCAGCATGCGCCAGCAGTCCCAGCTACTCTGGAGGCTGAGGCAGGAGAACTGCTTGAACCCGGGAGGTGGAGGTTGCAGTGAGCCGAGTTCGTGCCACTGCACTCCACCCTGGGTGACAGAACGAGACTCTGTCTCAAAAAAAAAATGATCAGTAATGGAGAAATTTATGCAATTAATGATATATTTATTAAGAGATGATTTATTAATAAGTAGTGGGATATTCATATTATGATCATGGACTGGAAATCTCAATATTGTCAAAGATTCAGTTCTCTCTGCATTGATCTGCAGGCTTATTACAATGTCAATGAGAGACTAAAACATTTACTTGCCTGTGGAAGTTAATAAGATGATTCAAAATTTTAAATAACACATTAGTCAAGAATAGCTAAGATATTATTAAATAAATGAAGAAGTTAGAAAAATATTTGTACCATACTGGAAGTGAAACTTACTTTTTAACATTATAGCACAGAAAAGTGAATAAGTTAACTGAAGATGGAAGAGAGGCCAGATAATTGCTCATGGACATTTCATATATGTGTCAGGTAAAAAAATTCAAGTTATGTGAGCAAATATAAACTTTTCAATAAATGGTAAATTTTGCTAAAAATTCAAAAATTAGATACGCATATTTGGATCCTTATTTCACATAATATTTTAAAAGTCATACCCATTAGAATTAACCAAATTTATAAGGAAAGAATATTAACAATTTTGTAAGATAACACAGTAAAATATTGTGATATTCCCAATATAGGATAAGACACAACACACACCAACCACAAGAAAGAGGCATGAAAAATTAGTCTACATGAAGGATAGAAACTTTTGTTTGTGAAAACATAACCACAGAGAATATGACAACGCAGATAAAATTTGGGAGATGTTATTTCAAGAATACATTCAAGTCTCTAAAGAATTCATATCCAGAATAAATACATATATATGTATGGTTTCTAGTTAATCTAACATATATATTATATAACACATATGTCATATATCATATATATCTATATATACTAGATGAATTAGAGAACATACACATATGTATAAATACTGATAATTTCCACAGTCTTTCATAACTTTTCATT
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AAATGAAAAACAAAATTATTGTCTTTCTTTTCCGGCCGATGGGCTTAGCTGTAGCTTACTGAAGTCGCCAAGCAGGAGAGATTTAACCAGAGGCGATGTGTCCAGTCACCAGCATAGAGCCATCCTCTGTGTCACCATCCACACGCAGGGCCTTCTGGCAGACCTCATGCAATGCCCTCCATGTTAATATTCATCAGAAAATGGATAATTAGGGGGGCCAGCAAAACTGGAAAGAGAAAAAAAAATGCACACTCTGAATGGCAATGACTCCGTTACTAGCCCGTAGCGCAGTGATTTCTAGGAAGCTGCCGCTAGTGTAGATGTTAAGAAGTTCATTTTCTGACTGCTCTAGAATCTGTGTTTCTTTGTTTAATGAACGTGACTTTATCATATCTGTATTTTCAAAATAAAGAATAATTTAATTCTATTCCCCTGCCTGGAACTTAACACATAAAACACACAAAGTGAAATGTTCAAACATGTTTCTCTACATCTCTCAACAACAGATCCCACATCTGTCAACAAAGAGATATTCTGACCTTTTCTATTTCAAATTCTCACTAAAAACAGGAACTCCTTCTGCCTTACATTGAAGAGGAATAAGGAAGATATATGCTCATCACTAATAAACAATTTTGAGTGTGATAATTATACTGGTAGTAATTGTACTTTATTTTATTACTTTACATATTACTTACTACCTGCCTATCATACGCAACACACTTGGTTAGATTAGAAACGTAAATTATTGTTTATGTTATAGGGCCCAATATTCAAAGAGCTACAATGCATAAACCATTTTATAGGTAGACATAATCCAAAATGTAAAGACACAGATAAATGACTGCTCACATATACAGTTATAACTTGTTAATTACGGAATTGAGCCTATCCTTTGTGATTACACCGAGAGCAAACACTTGGAAGCTCGCAAGTGGTTTACTCCAGACCATATTTGAGTTCTACAAAATAACACTAGTGATTGATTTCATGATCATAAAAAACATTAATCAGTTGTAAACATTTCTAATGCTTGCCACTTTTCCTTTTCTTATTATCATTTCCATTTTCATTTTGTATTTTCTGCTAAGTGGATAAAATACTACTAATAATATCCACCAAATTTTGGGTACTTATGATGTACCATTGTGCTTGTTTTTTTCACACATTATCTCATCATCTCTATTACTTGTTAAAATCTCCACTGCCATCAGTTACATAACTTCTTTTTCCCTCATTATTTGAATGACCTTCTATGAATCCTAGAACCTTAGAATATAGAGGAATAGTAAACGTCTGTTACTGGTTATAAATTATCTCCAATAATGGTGCTTTTGCATCTACACTCTGCATTTGATTTTAACACTTCCTCATTCTCTACACTGAGATCTCCATATTGCAGAACACCAAGGCCAAGTGCTCCTATTCGCTCCACTAAGACAGACTTTCTGGAGGCAAATGCAGTATTTGGCTCATGGGCAAACATGCAAAGAAAGGCACGAAAAAGGTTTGAAATGATTAAAAATGCTAAATTGACAGGATCCAGCAAGCAATTCCATGTGAAAGAGGTGGGAATTGGAACCTGGCCCACAAGATTGACGGAACTGCCTTTGATCTGGTAAGACATTGAGCAGGTTGGGAAGAACAAGATAGAAGCACAGATTTGGAAACATCTAATGCGACCACATGGGCCATATCCACAGTGTGTACACTAGACAGTAATACAAACGGCAGGCCTACATGGAAGGTGCAGATTCAGCAATGATCTTGGCTGCTCTGGAAAGTTCCTTGGAGTCACGAGAGCAGAGGCACAGGTTGACCCATGCTGACCCCAGGCCACTCTCCCTGCCAGAGAACAGAGCTCTGGAGTGAATCCAGGAGGAGACTTCCAGAAAGCTCCTGTCTCACCTCTGTCTCACGTTGGCCTCTGTGCCCCTGGTGTGGAGGTCACTCTCAACACCCATCCTACGTTCCTCCTCTGAAAATAAATTAGGACAACCATCTCCAAAATTACTTACATATCAAGGGTCAAATATCGCACATTTCTGGTTAGGCCATCTATGGCTTTCATCTCCTCTGAAGTCAACTGGAATTCAAACACCTATCAAAGTAATAGAAAACTTTAATTATTTTTAGATTACATCATTGCCAATTGGGAACAACCAAGTTCATCAGACAGTAGGGTGCAGAGACAATACTTAAAAGATTGATACGTTTCCAAAATTTATGAAAGACCTCTCTAAACACCCAAGTGGTCAATGAAAACCAGTCAAAAATAAGCAGAAATCCATTCCCAGATAAAATATTTTGAAACTGCACAACACTGCAGATGAAGAGAATATCTCAGAGGAAGCTGAAGAAGAAACAGAGCTTACTTTGTGCCCACATGATAGGGCCATGTACCTAGAAGACCCACAAGAATCTAGAGGCAAATTTTGTAATGTCTAGCATAATTTAGTAGGTTTGATGAATAACATTGAATATCTATCTCTCCAATGAACAGGTATAATAGGAAAAATCAGTTTTCAACATCACTCAAGCCAATAATTGTCTAAATACTAACGATTTCACATTCAAAAGGTGTGGGTACTCACTATGTAAATTTGGGAGACTCTAAATATCAAAAAGATGTCACTCTTTCTAATACATTCAATCAAATAAGTGTATAAATCCATAGGGAAACTGAAGGAGTAATACAGAAAATGAGAGAAAGAGAGTAAAAAATGACAGCAATGTAACACTTGATGAATGTAGGTAAGAAGATTTGTTGCATTATTCTTTTAATATTTCTATATATTAGAAAATCCACAAAATGAAAATGAAAAGTTATCAAAAACTATTAAAATTATCAGTAATTGCCGGGCACGTTGGCTCACGCCTATAATCCTAGCACTTTGGGAGGCCAGCGCAGGAGGATTGCCTGATTTCAGGAGTTAGAGAACAGCCTGGGCAACACAGTGAAACCCGTCTCTACTAAAATACAAAAAATTAGCTGGGCATGGCAGCATGCGCCAGCAGTCCCAGCTACTCTGGAGGCTGAGGCAGGAGAACTGCTTGAACCCGGGAGGTGGAGGTTGCAGTGAGCCGAGTTCGTGCCACTGCACTCCACCCTGGGTGACAGAACGAGACTCTGTCTCAAAAAAAAAATGATCAGTAATGGAGAAATTTATGCAATTAATGATATATTTATTAAGAGATGATTTATTAATAAGTAGTGGGATATTCATATTATGATCATGGACTGGAAATCTCAATATTGTCAAAGATTCAGTTCTCTCTGCATTGATCTGCAGGCTTATTACAATGTCAATGAGAGACTAAAACATTTACTTGCCTGTGGAAGTTAATAAGATGATTCAAAATTTTAAATAACACATTAGTCAAGAATAGCTAAGATATTATTAAATAAATGAAGAAGTTAGAAAAATATTTGTACCATACTGGAAGTGAAACTTACTTTTTAACATTATAGCACAGAAAAGTGAATAAGTTAACTGAAGATGGAAGAGAGGCCAGATAATTGCTCATGGACATTTCATATATGTGTCAGGTAAAAAAATTCAAGTTATGTGAGCAAATATAAACTTTTCAATAAATGGTAAATTTTGCTAAAAATTCAAAAATTAGATACGCATATTTGGATCCTTATTTCACATAATATTTTAAAAGTCATACCCATTAGAATTAACCAAATTTATAAGGAAAGAATATTAACAATTTTGTAAGATAACACAGTAAAATATTGTGATATTCCCAATATAGGATAAGACACAACACACACCAACCACAAGAAAGAGGCATGAAAAATTAGTCTACATGAAGGATAGAAACTTTTGTTTGTGAAAACATAACCACAGAGAATATGACAACGCAGATAAAATTTGGGAGATGTTATTTCAAGAATACATTCAAGTCTCTAAAGAATTCATATCCAGAATAAATACATATATATGTATGGTTTCTAGTTAATCTAACATATATATTATATAACACATATGTCATATATCATATATATCTATATATACTAGATGAATTAGAGAACATACACATATGTATAAATACTGATAATTTCCACAGTCTTTCATAACTTTTCATT
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Task1_train_13639
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This alteration occurs within gene AKR1C2, LOC101928051 (aldo-keto reductase family 1 member C2| uncharacterized LOC101928051) located on Chromosome 10. Is it associated with a disease or is it a benign variant?
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Pathogenic; 46,XY disorder of sex development due to testicular 17,20-desmolase deficiency
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CAAGTCTCTAAAGAATTCATATCCAGAATAAATACATATATATGTATGGTTTCTAGTTAATCTAACATATATATTATATAACACATATGTCATATATCATATATATCTATATATACTAGATGAATTAGAGAACATACACATATGTATAAATACTGATAATTTCCACAGTCTTTCATAACTTTTCATTTTTGTTTTGTGAATTCTCTAATGTCCAAAAATATTTTTAAAATAATTTAATGAATGCCATTACCTAGATTCATCAATTGTTTCATTATTGTCATTTTTTATTCTCTCGTTCTCTGTATCACTATTTCAGAGTATCCTATGGATTTCTTCACTTATTTTACTTAATGTTTTAGTAAATAGTGACGTATATACATATACATGATATATGTCATATATATGACATAGGTTTTATAATATATATCATACGTGATGTATATTTTATGTATCTAACTAATTAGAAAACATACACATATGTATGTATTCTGGATGTTAATTCTTTAGAGACTTGTATGAATTCTTGAGAATATATGAAATAATATATCTATATATATTCATATTCATACATATAACTATTGATATATTATTTCACACATATCATATAAATGATAGATTAATTAGGAACATGCCCTCTAACAATCACATGTCCCTGTGTCCACTTGCTTGGCTATATGAATTTCCAGTTCCTTCCAGTAAGAGGTGGTGTGTGTTTCCCCACCCCTTGAGTCTGACCTGTCCTGTAACTTGCATTAGGTGATAGAATTTCCCAGAAGCAATGGTTGGTGTCTCTGAGCCTAGACCTAAAAAGGCTTTGCACATGTCCATTCACTATGCTGGGGTCATGCCCTGTGCTGAGGTGAACCCTGGGCTGGATGGCTGGAGGATAAAGAACTGCATGGGAGAGGGGGGCACTCACACAGATGCCCCAGGGACATCCTGAAGCAGAGCTGCCTCACTGCCCTGAACACACATGAGAGCCCAGCCAGGAACAGAAGGAATGGACTGAGTTTAGGCTGAGCCCAGGCTAATTTTCTAACCATGGAACCTTGAGCTCAATAAATGCTTTTGCATTAAGCCTCTATATTAAGTGGGTTTGTCTTATATCCTAAGGTATTGGTATAAATATGGTCTCCTACACATAAAAATAAAGACACACAACCACCTCGCCAAAAAAAAAGGCAGAGTTAAACAAGCACTTCGCAAAGATAAAATTCTAAGAGAATAAATATAAGGAATTTATACTACATAAACATACAAGAAGAAAAATCCGCCATGAGTTGGAGACTAAAGAACATCTAATCAATGCTTCATTATAAAAAATAAAGAAAAGGACATGGCCCCAGTAGAGGGATATGGATATCACTGACTTAACGCTAACCCAAATCTGTAGTTTTGATCCCATCCTATTACTCTCCACCTCTGTTGCCTCTCCTGTGCTAGAGTAGAAGAAACCCTTATGACGTACACAAAGAGTTCATGCATAGGAAATACAGGGAAATGGAGCTGGCCCAAGGCTGTCCTGAGAGCCTTACAAGAAGCACACGTGTGAAGGACACTGTGCAGGAGACCTGAGGCCCACAGCCCCGCTCCTCACCTGCACGTTCTGTCTGATGCGCTGCTCATTGTAGCTCTTGGCCAGGACCACAACCCCACGCTGCAGCTGGTAGCGCAGGGCAATCAGGGCTGGGGTTCGCTTGTGCTTTTTTGCCAAGGCACAAAGGACTGGGTCCTCCAAGAGCACCGGGGAGTTCGGGTCCACCCTGGAAGGAAAGGCAGAAAGGCTGAGGCCCTGAGGCTGGCGATAGTTTGTTAGGCGGCTCCCTAAACAGACTAAGGCGTCCACTCTGCACCGGAGCTTCTCAAGCGAGGCCCCCGAACAGCAGCCTCAACATCACCTGGGATCTCGTCAGAAATGCAAATTCTTCCCTCACCCCAAGTCAGCTGTGAGTGAACTCCAGGAAACAGCATGATCTGATTAAATTTTTTTTATCAAACCAGTGTTTTAGGTAAACTTCCTGTATCTCTTATTACCATGGTTCTTCTCGATGGGATCCCAGAGCACTATAGGCAACCAGAACAATGTCTTTTGACTTGCAGAAATCCAGCAGTTTTCTCTGGTTGAAGTAAGGATGACATTCCACCTGCAGACGAGCAAGATGGAAAAGCATCAGATAATCCAAAAGTTACATTAATATTAAAATCACCAAAGTAAAAGAAGCTGAATAATGTAGAGCATTAAATTTGAACTGAGAATATTATTGTCAAAAATGATCTTTTTCATAAAAATAAATTTTATGCCCCTCTCTCCTAAGAAAATAGAAATGCTATTTCTGAGCACAAGCAACTCCATGAACCCTATCCTGGTTTCTCAATAACTCCGACCACTAGAAGGAGACACGGCCAATTTCAGAGCTGGGATGAGGTAAGATTCTTTGAGCCTTGGGCATCAAATCGTGCCAGAAATCAAGAATTTGGTCAAAGACTCATGAGGGCAGGTCTGAAAAACAAAAGAACTAGTTTCCTAATTAATACCAAAAATGCATACATATATATGTATGTTTTCTAATTGATCTGACATATATATATCATATATGCCATCTATGATATATATCTATATAGATGAACTAGAAAATATACATATACACATAAATACTGATAATTTTCACAGTCTTTCATTACTTTTCCTTTTTGTATGATGGATTTGTATGTTGATATCTCAAATGTCACCAGTGGGTTCCCTATGAAACAAGTGCTTTTGTCTTTTACACTTGCCCTCATGAGTCTTTGATCACATTCTTCTTTCATATATATTATATATATATAATATATATATATATGCTGAGTAGATGTGAGCATTAAAAAATGAGTAAAATAAATTAAAAATCATAACACAAGAATCCGTGAGTCTGTAGCAATTAGTGCGACAATGAGAAAAAGAACAACAATCTTTGTCTACTCTGATGGTGGTCATTACAGTAATTACGTTCACAGTACATTGCTAATTGAAGGAAGAAGTTTACCTTTACTCTCACTTAGAGGAATAGTAGTTTATTATTTTTACTTGGTGAGAAATTATTTTTAATTAAATGTCAGGTAAGAATAGTTAAACAAGTGGTTAAAATTGTAAATGATTATGTAAAAACCCCAAGGAAATAACAAATAAGAAATAACAAAGAAGAAAACAGAAATGCAGTAGAAAAAAGTTCAAATCACTGATGTATACTCAATCATATGTGAAAATTTGTCATGGGAATATGACTTCTTCTGTTGAGAATTATCCCCCAGCAGATTACTAGTAATTGTTAAAGAGAAAACATGAGTTAAAAACAACAGATCTGACCACTGTTAGCTTAACCAAGTTTTTAAAACTACCTTCACCACTAGTGGGGCATTCTGTGATTGTATGCAGTCTAGTGTCGTGCAATTTGAAAAACACAGCATGATAAAAACATTTTCTTGCCCCAAAGTTTTAAGCCAATGTAATAAAATACTCACATCTAACTTTTAATTTACAGGAACCTTCAACTGGGAAAAACAAGTTAACTGATATCAAATACAACAATATAAAAACAATTGAATTCTGGTTAAAAAAAGAAGAGCTACAAAAGATATTTTGATTAAGCAATGAAAAATTAAAATATGGACCGGATACCAAATGACATAAGGGCACTATAAATGATGTTCTTAGATACAGTAATGACACTGGAACTGGGAGAATATCTTCATTCCTGTGACATGCTTTGAGAGGTCTCTAGGGGTCAATTGTCATCTTTACAATTTACCTTGAAGAGGTTCTAGAAACATTATATGTATTTATGCAGATATACTCCATATAACATTGCAAAATGTTAGTAATTTTGAATATAAATGGTAACATGGGTCTCCAGTATTATTTTTATCAAATTTTTGGAAAGTGTGAAAATGGCCATATTAAAAAATTGGGGAACTACTAGTATTAAAACCACATTAATTTCTCAATGCTTTTATTAAATTATCACAGCACCATATCATTATACCAAATTATAACAAAATTATAACAAAAAATGTAAGTTACTGGGAAAGGTGTAGTGATTTTAATGCTGAAATGTGTGTA
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CAAGTCTCTAAAGAATTCATATCCAGAATAAATACATATATATGTATGGTTTCTAGTTAATCTAACATATATATTATATAACACATATGTCATATATCATATATATCTATATATACTAGATGAATTAGAGAACATACACATATGTATAAATACTGATAATTTCCACAGTCTTTCATAACTTTTCATTTTTGTTTTGTGAATTCTCTAATGTCCAAAAATATTTTTAAAATAATTTAATGAATGCCATTACCTAGATTCATCAATTGTTTCATTATTGTCATTTTTTATTCTCTCGTTCTCTGTATCACTATTTCAGAGTATCCTATGGATTTCTTCACTTATTTTACTTAATGTTTTAGTAAATAGTGACGTATATACATATACATGATATATGTCATATATATGACATAGGTTTTATAATATATATCATACGTGATGTATATTTTATGTATCTAACTAATTAGAAAACATACACATATGTATGTATTCTGGATGTTAATTCTTTAGAGACTTGTATGAATTCTTGAGAATATATGAAATAATATATCTATATATATTCATATTCATACATATAACTATTGATATATTATTTCACACATATCATATAAATGATAGATTAATTAGGAACATGCCCTCTAACAATCACATGTCCCTGTGTCCACTTGCTTGGCTATATGAATTTCCAGTTCCTTCCAGTAAGAGGTGGTGTGTGTTTCCCCACCCCTTGAGTCTGACCTGTCCTGTAACTTGCATTAGGTGATAGAATTTCCCAGAAGCAATGGTTGGTGTCTCTGAGCCTAGACCTAAAAAGGCTTTGCACATGTCCATTCACTATGCTGGGGTCATGCCCTGTGCTGAGGTGAACCCTGGGCTGGATGGCTGGAGGATAAAGAACTGCATGGGAGAGGGGGGCACTCACACAGATGCCCCAGGGACATCCTGAAGCAGAGCTGCCTCACTGCCCTGAACACACATGAGAGCCCAGCCAGGAACAGAAGGAATGGACTGAGTTTAGGCTGAGCCCAGGCTAATTTTCTAACCATGGAACCTTGAGCTCAATAAATGCTTTTGCATTAAGCCTCTATATTAAGTGGGTTTGTCTTATATCCTAAGGTATTGGTATAAATATGGTCTCCTACACATAAAAATAAAGACACACAACCACCTCGCCAAAAAAAAAGGCAGAGTTAAACAAGCACTTCGCAAAGATAAAATTCTAAGAGAATAAATATAAGGAATTTATACTACATAAACATACAAGAAGAAAAATCCGCCATGAGTTGGAGACTAAAGAACATCTAATCAATGCTTCATTATAAAAAATAAAGAAAAGGACATGGCCCCAGTAGAGGGATATGGATATCACTGACTTAACGCTAACCCAAATCTGTAGTTTTGATCCCATCCTATTACTCTCCACCTCTGTTGCCTCTCCTGTGCTAGAGTAGAAGAAACCCTTATGACGTACACAAAGAGTTCATGCATAGGAAATACAGGGAAATGGAGCTGGCCCAAGGCTGTCCTGAGAGCCTTACAAGAAGCACACGTGTGAAGGACACTGTGCAGGAGACCTGAGGCCCACAGCCCCGCTCCTCACCTGCACGTTCTGTCTGATGCGCTGCTCATTGTAGCTCTTGGCCAGGACCACAACCCCACGCTGCAGCTGGTAGCGCAGGGCAATCAGGGCTGGGGTTCGCTTGTGCTTTTTTGCCAAGGCACAAAGGACTGGGTCCTCCAAGAGCACCGGGGAGTTCGGGTCCACCCTGGAAGGAAAGGCAGAAAGGCTGAGGCCCTGAGGCTGGCGATAGTTTGTTAGGCGGCTCCCTAAACAGACTAAGGCGTCCACTCTGCACCGGAGCTTCTCAAGCGAGGCCCCCGAACAGCAGCCTCAACATCACCTGGGATCTCGTCAGAAATGCAAATTCTTCCCTCACCCCAAGTCAGCTGTGAGTGAACTCCAGGAAACAGCATGATCTGATTAAATTTTTTTTATCAAACCAGTGTTTTAGGTAAACTTCCTGTATCTCTTATTACCATGGTTCTTCTCGCTGGGATCCCAGAGCACTATAGGCAACCAGAACAATGTCTTTTGACTTGCAGAAATCCAGCAGTTTTCTCTGGTTGAAGTAAGGATGACATTCCACCTGCAGACGAGCAAGATGGAAAAGCATCAGATAATCCAAAAGTTACATTAATATTAAAATCACCAAAGTAAAAGAAGCTGAATAATGTAGAGCATTAAATTTGAACTGAGAATATTATTGTCAAAAATGATCTTTTTCATAAAAATAAATTTTATGCCCCTCTCTCCTAAGAAAATAGAAATGCTATTTCTGAGCACAAGCAACTCCATGAACCCTATCCTGGTTTCTCAATAACTCCGACCACTAGAAGGAGACACGGCCAATTTCAGAGCTGGGATGAGGTAAGATTCTTTGAGCCTTGGGCATCAAATCGTGCCAGAAATCAAGAATTTGGTCAAAGACTCATGAGGGCAGGTCTGAAAAACAAAAGAACTAGTTTCCTAATTAATACCAAAAATGCATACATATATATGTATGTTTTCTAATTGATCTGACATATATATATCATATATGCCATCTATGATATATATCTATATAGATGAACTAGAAAATATACATATACACATAAATACTGATAATTTTCACAGTCTTTCATTACTTTTCCTTTTTGTATGATGGATTTGTATGTTGATATCTCAAATGTCACCAGTGGGTTCCCTATGAAACAAGTGCTTTTGTCTTTTACACTTGCCCTCATGAGTCTTTGATCACATTCTTCTTTCATATATATTATATATATATAATATATATATATATGCTGAGTAGATGTGAGCATTAAAAAATGAGTAAAATAAATTAAAAATCATAACACAAGAATCCGTGAGTCTGTAGCAATTAGTGCGACAATGAGAAAAAGAACAACAATCTTTGTCTACTCTGATGGTGGTCATTACAGTAATTACGTTCACAGTACATTGCTAATTGAAGGAAGAAGTTTACCTTTACTCTCACTTAGAGGAATAGTAGTTTATTATTTTTACTTGGTGAGAAATTATTTTTAATTAAATGTCAGGTAAGAATAGTTAAACAAGTGGTTAAAATTGTAAATGATTATGTAAAAACCCCAAGGAAATAACAAATAAGAAATAACAAAGAAGAAAACAGAAATGCAGTAGAAAAAAGTTCAAATCACTGATGTATACTCAATCATATGTGAAAATTTGTCATGGGAATATGACTTCTTCTGTTGAGAATTATCCCCCAGCAGATTACTAGTAATTGTTAAAGAGAAAACATGAGTTAAAAACAACAGATCTGACCACTGTTAGCTTAACCAAGTTTTTAAAACTACCTTCACCACTAGTGGGGCATTCTGTGATTGTATGCAGTCTAGTGTCGTGCAATTTGAAAAACACAGCATGATAAAAACATTTTCTTGCCCCAAAGTTTTAAGCCAATGTAATAAAATACTCACATCTAACTTTTAATTTACAGGAACCTTCAACTGGGAAAAACAAGTTAACTGATATCAAATACAACAATATAAAAACAATTGAATTCTGGTTAAAAAAAGAAGAGCTACAAAAGATATTTTGATTAAGCAATGAAAAATTAAAATATGGACCGGATACCAAATGACATAAGGGCACTATAAATGATGTTCTTAGATACAGTAATGACACTGGAACTGGGAGAATATCTTCATTCCTGTGACATGCTTTGAGAGGTCTCTAGGGGTCAATTGTCATCTTTACAATTTACCTTGAAGAGGTTCTAGAAACATTATATGTATTTATGCAGATATACTCCATATAACATTGCAAAATGTTAGTAATTTTGAATATAAATGGTAACATGGGTCTCCAGTATTATTTTTATCAAATTTTTGGAAAGTGTGAAAATGGCCATATTAAAAAATTGGGGAACTACTAGTATTAAAACCACATTAATTTCTCAATGCTTTTATTAAATTATCACAGCACCATATCATTATACCAAATTATAACAAAATTATAACAAAAAATGTAAGTTACTGGGAAAGGTGTAGTGATTTTAATGCTGAAATGTGTGTA
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Task1_train_13640
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Located on Chromosome 10, this mutation impacts AKR1C2 (aldo-keto reductase family 1 member C2). What is its biological consequence — is it benign or pathogenic, and which disease is associated if any?
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Pathogenic; 46,XY disorder of sex development due to testicular 17,20-desmolase deficiency
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GGAGAGGAGGCTGAGGGCGCTCACCTGGTTGCAGACAGGCTTGTACTTGAGCCCTGGCTTGTTGAGGATCATCTCCAGCAGCCTGTGGTTGAAGTTGGACACCCCGATGGACTTGGCCAATCCTGCATCTTTACACTTCTCCATGGCCTGGGAAAAAGGAATTGTGAGGTATCATTTGTGTAGTCGACTGAAGAGCAAGATAAATGTAACATAGAACTGTGAAAGCAACAACTGTCTAGACGTGACAATCAAACTAGCTAGCCGTGGTTCTTAAAAGGGAGAAAATAAAACAGAAAAATTGGGGAAGAAGATAGTGATTGCAAGAGTGAGAATTTCTGTTTCCTCCTTAGGAAAGTGGAGAGATTAATGTACAGGCAAGGAAAGAAATCCCAGTCCTCCTTACCCCCAATTCTTCTCCTCCACTTCTCTCTTTTGTATGCCTGTCATTTCTTTTTCCTCGCTGCTCACAAAAACTACCTTTGTAAAGTTCCTAAGTTTTTGATCCAATGGTGCATTTTCCATACTTGTACTAAGAAGATAGGAAACAGATGTATCCTACCTCATCTTTCTTATCCGTTCTCTCACCTCCAAACACTCACCTCCCATGTGGCACAGAGATCCACTGTGTCAAATAGTATTTTTCCATTTTCATCTTTTGGGATCACTTCCTCACCTGGCTGAAGTAGAAGCAGTCAGTTTAGTGATGTCACAAGTCAATTTCTCCACACATAGCCATGCTCTGAGGTACATTTAAGGACACTAATCCTCCATGAGGTAGGTGATGCAGCGCTCCAGAGAGTGGTATGTACAAAGTGTACTACATATGAAGGTATAAGGAATGTCTTCAGGTGACAGGCTTCCTCTAATCTCTTACACCTATTATATGTATAAATAAATACCATCTTTCTGGTTCCTAATGGAGTGTCATCATTGACTTTCATTGACTTTCTTCTGCTCCTATAATTTTCTCTGTGGCAATACCTCTCTTCAACTGCAAAAGATCTTGATATCCAGATATAATGGATTGTACTTTTTACCCAGGTGCCACTATCAGAGTTCTTTATCTCCCTGAACATATGATGTTCCATGCACAGGACCATGAACCAATCATGGTCAATGGAGGCGTTTTCCAGGCTAGTTTGGAAATTAGGAGATGCACAGGAGCTCACGGTAATGAACATGGGCCTGACAGTGCTCCAAAGCCATAAATGCCACCAACGAAAAAGGTTGGAACAAATATTTAAAAAGCCTTTTGTAATAAAGCAGAGATAAGGGTGGAGAAAGGATATATTTTTAGAGTTTTTATCAAATTCTTAATGTAGCCCTGGCTTTGATTTCCCATTATCATATCTAATATACCCTTTTGCATTAACTAGCCTGACTAGTTTTCAGTACCTTAAGACAAAAGTTATGAATGACACAAGAATTCATGGCTAAGCAAAAATAAAACCTCCAGTGTGAAAAGAGAGGAAGCAGAAGCAACAAGGTTTCCCATGAAGGTTTGTAGTTTAAGACATTCCCGGACTGAGTTCTTGCCCCTTGAAAAGAGGCAAGAAGATGGAAACTCATTGTGCACCCTATGTGCAGCAGGTTTTCTGGACACCACAGCTTCATGAAACTCTGTGTCTGTGAACATCCCAAGAGGTGAAATCAGGAATCATAAATAAGACCTTGTGCCTTCAAGGAGATGATTGTCATTTCCTCAAGTTTTTGAGGCAGAGGCTTTGAGGATTCTGCACTCTCTTTTCTTGTAGACATGCAATCACGGAAGTATGGATTCAAAATTGCTTTCTGTTCCATAGAAAGGAATTAGGAGTTATGTTTAGGGCTCTTCTTCCATGTTAAAATCCCTATGTCCTCCTAAGAAAAAGCTTAGTTCAAATCTCCATGAAAACAATATTTATGCTGAGAACAAAAGTGAAATTAATTTGATCACACAAGCTGCCTACCTTTACAGACACTGGAAAATGAATAAGATAGAGGTCAACATAGTCCAATTGAAGATTTTTCAGTGACCTTTCCAAGGCTGGTCGGACCAACTCTGGTCGATGGGAATTGCTCCAAAGCTGCAGAGGTTAGAGAAACGAAGTTGTGTAATGAAAACTTGAGCCAGTTTTACTAGTTTGCTCCACCTAATATTTAGACATTTTCTACTACTTCAAAACTAATGACCACAGGCAAAATTATTCTCTCTCTTCTTGTGATGCCTTTTGTTCTGCCATATCATGATGAACTTTATAATATGTTGGATATATAGTTAGTACATATATTGAATGAAAGAGTGAAATTACTCAAAAGGTAAAAGTTGTTATCAAATCATAAGCATACCCATTATCTGAATTATCTTTGGTAAGTTTTACAACTCATATTAGTGGTGTAATTATTTCATCTATTCAGCCCAATGGGCAAGACTAAGTATCTTTGTGGTTTGGAAACTGAGGAGGCAAACACAGTTTTTAATATGTTAACTTGGGCTGGATGCAATTTAAAACAATGTAGGTATCACTCTTTTATACTCACTGAGCTCTCTTATATCGCTTTCTCTCTCTCTCTGATCAAAATGACAATGGAAACTCAGAATCATAACAAATGTAAGAAACTCACCCAGGAGGTAACAGATAACATAATATGATTAAGATTATCTCTCATTCTATAGTCTATGTTAAACCATATTGATCTGTGCTGAGCTCGAAGAGTAAAGGCACTTTGAAGGCATGAATTGGAACACTGCAAAGATGAGAAAGCCATCTTCACTTCCTGCCTTTGATATTAGTTTTAATACATGAGTAAGTGTGAATAAATCGAAATAAATAAGCACAATTCACCCTCAACTATGGATCCAGTCATAGAACTGCCACCTCCACACAATCACAATAAATACATGTGCACACAAGCTCATCATAGGCACAGTACCTTTGAAGTGTAGAATATGTCTTCTCTCTTCACACTGCCATCTGCAATCTTGCTTCGGATGGCCAGTCCAACCTGCTCCTCATTATTGTAAACATGTGCAGAATCAATATGGTGGAACCCGGCTTCTATTGCCAATTTGACGGCCTCTAGAGCTTTACTTTTAGGAACCTGGGGGAGCAACCAAACGTAATATTTTCTGACTAATGTGCCTGAGAGTTAGTTCGGGCACAAGCAGCAACGTTCACAAAAATCAGCTTTTCCTCCTTTCTTGGATGAGCTCTGTATGTAGAATCATAAGCCCATCCCAGTCTGACTGGGTCTTTCCCATTTAGTAATAAAGGTTGGGCATAGCAGGAACTTCTGCAGTCCCAGAAAAATCACTGCTTGACCACTAGCTTGGAAGTGTCCCCAAAACAATTTCACTTTCAGTGATTTTTTGGAAAAATCAACAGGACGCAACTATAGTTACAGACATAATCTTAATTATTTTTAGTATGGTGAAATTAACACAAGGAAATAGCCACATGGAAGGAATTATGAAGGAATGCAGTGTAAGCTCCTGTGATTCCTCTCCCACCATGTTGCACAGAGCGCACTGACTTTATCCAGCATCATATTTTGTCAATGTATGTGAACTGTTGTCTACAAGAGATGCCCTCTACATACTCCATTGCTAAGATTTTGTCTGGGACTGGATACATTGACTCACTCTGCCTAGCAGACACAAATCTTCCAGTCTCCAAAAGCAAAGCAGGTGCACAGAAACCCCACAGTTTACACAAACAGTTACGTAGAGCCACCATTCTTATCAGTTAGGAAACAGGGAGAACTCCACTTTCTCAGATGCCAGCAGGTTTATATTGGAAATAGGCACATCTATGGATAGCAGTCTATTATGTTAGATCTTTTCTACCCAGGTTTTGGCCATTCTGTCTGCATAACAGAACCAAATACTAGGAGTAAAGATGTATACTCTAAGGATATTGATTTGTGTATGTAAGAAATAGGCTGCAGGGAGTAAGTGATTAGCAAAATGGGGTTCAGCTCCATAAATTCAAGGCAACTCTGTCAGGAAACATATGATTGCAGTAAAATTTACAATTATTGACTTATGTAACAAATTTGGATACAGATTTGACAGTATATCTTTTAAATGACAAAAACAGAAACAAAGCAAACTATC
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GGAGAGGAGGCTGAGGGCGCTCACCTGGTTGCAGACAGGCTTGTACTTGAGCCCTGGCTTGTTGAGGATCATCTCCAGCAGCCTGTGGTTGAAGTTGGACACCCCGATGGACTTGGCCAATCCTGCATCTTTACACTTCTCCATGGCCTGGGAAAAAGGAATTGTGAGGTATCATTTGTGTAGTCGACTGAAGAGCAAGATAAATGTAACATAGAACTGTGAAAGCAACAACTGTCTAGACGTGACAATCAAACTAGCTAGCCGTGGTTCTTAAAAGGGAGAAAATAAAACAGAAAAATTGGGGAAGAAGATAGTGATTGCAAGAGTGAGAATTTCTGTTTCCTCCTTAGGAAAGTGGAGAGATTAATGTACAGGCAAGGAAAGAAATCCCAGTCCTCCTTACCCCCAATTCTTCTCCTCCACTTCTCTCTTTTGTATGCCTGTCATTTCTTTTTCCTCGCTGCTCACAAAAACTACCTTTGTAAAGTTCCTAAGTTTTTGATCCAATGGTGCATTTTCCATACTTGTACTAAGAAGATAGGAAACAGATGTATCCTACCTCATCTTTCTTATCCGTTCTCTCACCTCCAAACACTCACCTCCCATGTGGCACAGAGATCCACTGTGTCAAATAGTATTTTTCCATTTTCATCTTTTGGGATCACTTCCTCACCTGGCTGAAGTAGAAGCAGTCAGTTTAGTGATGTCACAAGTCAATTTCTCCACACATAGCCATGCTCTGAGGTACATTTAAGGACACTAATCCTCCATGAGGTAGGTGATGCAGCGCTCCAGAGAGTGGTATGTACAAAGTGTACTACATATGAAGGTATAAGGAATGTCTTCAGGTGACAGGCTTCCTCTAATCTCTTACACCTATTATATGTATAAATAAATACCATCTTTCTGGTTCCTAATGGAGTGTCATCATTGACTTTCATTGACTTTCTTCTGCTCCTATAATTTTCTCTGTGGCAATACCTCTCTTCAACTGCAAAAGATCTTGATATCCAGATATAATGGATTGTACTTTTTACCCAGGTGCCACTATCAGAGTTCTTTATCTCCCTGAACATATGATGTTCCATGCACAGGACCATGAACCAATCATGGTCAATGGAGGCGTTTTCCAGGCTAGTTTGGAAATTAGGAGATGCACAGGAGCTCACGGTAATGAACATGGGCCTGACAGTGCTCCAAAGCCATAAATGCCACCAACGAAAAAGGTTGGAACAAATATTTAAAAAGCCTTTTGTAATAAAGCAGAGATAAGGGTGGAGAAAGGATATATTTTTAGAGTTTTTATCAAATTCTTAATGTAGCCCTGGCTTTGATTTCCCATTATCATATCTAATATACCCTTTTGCATTAACTAGCCTGACTAGTTTTCAGTACCTTAAGACAAAAGTTATGAATGACACAAGAATTCATGGCTAAGCAAAAATAAAACCTCCAGTGTGAAAAGAGAGGAAGCAGAAGCAACAAGGTTTCCCATGAAGGTTTGTAGTTTAAGACATTCCCGGACTGAGTTCTTGCCCCTTGAAAAGAGGCAAGAAGATGGAAACTCATTGTGCACCCTATGTGCAGCAGGTTTTCTGGACACCACAGCTTCATGAAACTCTGTGTCTGTGAACATCCCAAGAGGTGAAATCAGGAATCATAAATAAGACCTTGTGCCTTCAAGGAGATGATTGTCATTTCCTCAAGTTTTTGAGGCAGAGGCTTTGAGGATTCTGCACTCTCTTTTCTTGTAGACATGCAATCACGGAAGTATGGATTCAAAATTGCTTTCTGTTCCATAGAAAGGAATTAGGAGTTATGTTTAGGGCTCTTCTTCCATGTTAAAATCCCTATGTCCTCCTAAGAAAAAGCTTAGTTCAAATCTCCATGAAAACAATATTTATGCTGAGAACAAAAGTGAAATTAATTTGATCACACAAGCTGCCTACCTTTACAGACACTGGAAAATGAATAAGATAGAGGTCAACATAGTCCAATTGAAGATTTTTCAGTGACCTTTCCAAGGCTGGTCGGACCAACTCTGGTCGCTGGGAATTGCTCCAAAGCTGCAGAGGTTAGAGAAACGAAGTTGTGTAATGAAAACTTGAGCCAGTTTTACTAGTTTGCTCCACCTAATATTTAGACATTTTCTACTACTTCAAAACTAATGACCACAGGCAAAATTATTCTCTCTCTTCTTGTGATGCCTTTTGTTCTGCCATATCATGATGAACTTTATAATATGTTGGATATATAGTTAGTACATATATTGAATGAAAGAGTGAAATTACTCAAAAGGTAAAAGTTGTTATCAAATCATAAGCATACCCATTATCTGAATTATCTTTGGTAAGTTTTACAACTCATATTAGTGGTGTAATTATTTCATCTATTCAGCCCAATGGGCAAGACTAAGTATCTTTGTGGTTTGGAAACTGAGGAGGCAAACACAGTTTTTAATATGTTAACTTGGGCTGGATGCAATTTAAAACAATGTAGGTATCACTCTTTTATACTCACTGAGCTCTCTTATATCGCTTTCTCTCTCTCTCTGATCAAAATGACAATGGAAACTCAGAATCATAACAAATGTAAGAAACTCACCCAGGAGGTAACAGATAACATAATATGATTAAGATTATCTCTCATTCTATAGTCTATGTTAAACCATATTGATCTGTGCTGAGCTCGAAGAGTAAAGGCACTTTGAAGGCATGAATTGGAACACTGCAAAGATGAGAAAGCCATCTTCACTTCCTGCCTTTGATATTAGTTTTAATACATGAGTAAGTGTGAATAAATCGAAATAAATAAGCACAATTCACCCTCAACTATGGATCCAGTCATAGAACTGCCACCTCCACACAATCACAATAAATACATGTGCACACAAGCTCATCATAGGCACAGTACCTTTGAAGTGTAGAATATGTCTTCTCTCTTCACACTGCCATCTGCAATCTTGCTTCGGATGGCCAGTCCAACCTGCTCCTCATTATTGTAAACATGTGCAGAATCAATATGGTGGAACCCGGCTTCTATTGCCAATTTGACGGCCTCTAGAGCTTTACTTTTAGGAACCTGGGGGAGCAACCAAACGTAATATTTTCTGACTAATGTGCCTGAGAGTTAGTTCGGGCACAAGCAGCAACGTTCACAAAAATCAGCTTTTCCTCCTTTCTTGGATGAGCTCTGTATGTAGAATCATAAGCCCATCCCAGTCTGACTGGGTCTTTCCCATTTAGTAATAAAGGTTGGGCATAGCAGGAACTTCTGCAGTCCCAGAAAAATCACTGCTTGACCACTAGCTTGGAAGTGTCCCCAAAACAATTTCACTTTCAGTGATTTTTTGGAAAAATCAACAGGACGCAACTATAGTTACAGACATAATCTTAATTATTTTTAGTATGGTGAAATTAACACAAGGAAATAGCCACATGGAAGGAATTATGAAGGAATGCAGTGTAAGCTCCTGTGATTCCTCTCCCACCATGTTGCACAGAGCGCACTGACTTTATCCAGCATCATATTTTGTCAATGTATGTGAACTGTTGTCTACAAGAGATGCCCTCTACATACTCCATTGCTAAGATTTTGTCTGGGACTGGATACATTGACTCACTCTGCCTAGCAGACACAAATCTTCCAGTCTCCAAAAGCAAAGCAGGTGCACAGAAACCCCACAGTTTACACAAACAGTTACGTAGAGCCACCATTCTTATCAGTTAGGAAACAGGGAGAACTCCACTTTCTCAGATGCCAGCAGGTTTATATTGGAAATAGGCACATCTATGGATAGCAGTCTATTATGTTAGATCTTTTCTACCCAGGTTTTGGCCATTCTGTCTGCATAACAGAACCAAATACTAGGAGTAAAGATGTATACTCTAAGGATATTGATTTGTGTATGTAAGAAATAGGCTGCAGGGAGTAAGTGATTAGCAAAATGGGGTTCAGCTCCATAAATTCAAGGCAACTCTGTCAGGAAACATATGATTGCAGTAAAATTTACAATTATTGACTTATGTAACAAATTTGGATACAGATTTGACAGTATATCTTTTAAATGACAAAAACAGAAACAAAGCAAACTATC
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Task1_train_13641
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Here is a genetic alteration in AKR1C2 (aldo-keto reductase family 1 member C2) on Chromosome 10. Based on the data, is it a benign variant or a cause of disease?
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Pathogenic; 46,XY disorder of sex development due to testicular 17,20-desmolase deficiency
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TATGTATAAATAAATACCATCTTTCTGGTTCCTAATGGAGTGTCATCATTGACTTTCATTGACTTTCTTCTGCTCCTATAATTTTCTCTGTGGCAATACCTCTCTTCAACTGCAAAAGATCTTGATATCCAGATATAATGGATTGTACTTTTTACCCAGGTGCCACTATCAGAGTTCTTTATCTCCCTGAACATATGATGTTCCATGCACAGGACCATGAACCAATCATGGTCAATGGAGGCGTTTTCCAGGCTAGTTTGGAAATTAGGAGATGCACAGGAGCTCACGGTAATGAACATGGGCCTGACAGTGCTCCAAAGCCATAAATGCCACCAACGAAAAAGGTTGGAACAAATATTTAAAAAGCCTTTTGTAATAAAGCAGAGATAAGGGTGGAGAAAGGATATATTTTTAGAGTTTTTATCAAATTCTTAATGTAGCCCTGGCTTTGATTTCCCATTATCATATCTAATATACCCTTTTGCATTAACTAGCCTGACTAGTTTTCAGTACCTTAAGACAAAAGTTATGAATGACACAAGAATTCATGGCTAAGCAAAAATAAAACCTCCAGTGTGAAAAGAGAGGAAGCAGAAGCAACAAGGTTTCCCATGAAGGTTTGTAGTTTAAGACATTCCCGGACTGAGTTCTTGCCCCTTGAAAAGAGGCAAGAAGATGGAAACTCATTGTGCACCCTATGTGCAGCAGGTTTTCTGGACACCACAGCTTCATGAAACTCTGTGTCTGTGAACATCCCAAGAGGTGAAATCAGGAATCATAAATAAGACCTTGTGCCTTCAAGGAGATGATTGTCATTTCCTCAAGTTTTTGAGGCAGAGGCTTTGAGGATTCTGCACTCTCTTTTCTTGTAGACATGCAATCACGGAAGTATGGATTCAAAATTGCTTTCTGTTCCATAGAAAGGAATTAGGAGTTATGTTTAGGGCTCTTCTTCCATGTTAAAATCCCTATGTCCTCCTAAGAAAAAGCTTAGTTCAAATCTCCATGAAAACAATATTTATGCTGAGAACAAAAGTGAAATTAATTTGATCACACAAGCTGCCTACCTTTACAGACACTGGAAAATGAATAAGATAGAGGTCAACATAGTCCAATTGAAGATTTTTCAGTGACCTTTCCAAGGCTGGTCGGACCAACTCTGGTCGATGGGAATTGCTCCAAAGCTGCAGAGGTTAGAGAAACGAAGTTGTGTAATGAAAACTTGAGCCAGTTTTACTAGTTTGCTCCACCTAATATTTAGACATTTTCTACTACTTCAAAACTAATGACCACAGGCAAAATTATTCTCTCTCTTCTTGTGATGCCTTTTGTTCTGCCATATCATGATGAACTTTATAATATGTTGGATATATAGTTAGTACATATATTGAATGAAAGAGTGAAATTACTCAAAAGGTAAAAGTTGTTATCAAATCATAAGCATACCCATTATCTGAATTATCTTTGGTAAGTTTTACAACTCATATTAGTGGTGTAATTATTTCATCTATTCAGCCCAATGGGCAAGACTAAGTATCTTTGTGGTTTGGAAACTGAGGAGGCAAACACAGTTTTTAATATGTTAACTTGGGCTGGATGCAATTTAAAACAATGTAGGTATCACTCTTTTATACTCACTGAGCTCTCTTATATCGCTTTCTCTCTCTCTCTGATCAAAATGACAATGGAAACTCAGAATCATAACAAATGTAAGAAACTCACCCAGGAGGTAACAGATAACATAATATGATTAAGATTATCTCTCATTCTATAGTCTATGTTAAACCATATTGATCTGTGCTGAGCTCGAAGAGTAAAGGCACTTTGAAGGCATGAATTGGAACACTGCAAAGATGAGAAAGCCATCTTCACTTCCTGCCTTTGATATTAGTTTTAATACATGAGTAAGTGTGAATAAATCGAAATAAATAAGCACAATTCACCCTCAACTATGGATCCAGTCATAGAACTGCCACCTCCACACAATCACAATAAATACATGTGCACACAAGCTCATCATAGGCACAGTACCTTTGAAGTGTAGAATATGTCTTCTCTCTTCACACTGCCATCTGCAATCTTGCTTCGGATGGCCAGTCCAACCTGCTCCTCATTATTGTAAACATGTGCAGAATCAATATGGTGGAACCCGGCTTCTATTGCCAATTTGACGGCCTCTAGAGCTTTACTTTTAGGAACCTGGGGGAGCAACCAAACGTAATATTTTCTGACTAATGTGCCTGAGAGTTAGTTCGGGCACAAGCAGCAACGTTCACAAAAATCAGCTTTTCCTCCTTTCTTGGATGAGCTCTGTATGTAGAATCATAAGCCCATCCCAGTCTGACTGGGTCTTTCCCATTTAGTAATAAAGGTTGGGCATAGCAGGAACTTCTGCAGTCCCAGAAAAATCACTGCTTGACCACTAGCTTGGAAGTGTCCCCAAAACAATTTCACTTTCAGTGATTTTTTGGAAAAATCAACAGGACGCAACTATAGTTACAGACATAATCTTAATTATTTTTAGTATGGTGAAATTAACACAAGGAAATAGCCACATGGAAGGAATTATGAAGGAATGCAGTGTAAGCTCCTGTGATTCCTCTCCCACCATGTTGCACAGAGCGCACTGACTTTATCCAGCATCATATTTTGTCAATGTATGTGAACTGTTGTCTACAAGAGATGCCCTCTACATACTCCATTGCTAAGATTTTGTCTGGGACTGGATACATTGACTCACTCTGCCTAGCAGACACAAATCTTCCAGTCTCCAAAAGCAAAGCAGGTGCACAGAAACCCCACAGTTTACACAAACAGTTACGTAGAGCCACCATTCTTATCAGTTAGGAAACAGGGAGAACTCCACTTTCTCAGATGCCAGCAGGTTTATATTGGAAATAGGCACATCTATGGATAGCAGTCTATTATGTTAGATCTTTTCTACCCAGGTTTTGGCCATTCTGTCTGCATAACAGAACCAAATACTAGGAGTAAAGATGTATACTCTAAGGATATTGATTTGTGTATGTAAGAAATAGGCTGCAGGGAGTAAGTGATTAGCAAAATGGGGTTCAGCTCCATAAATTCAAGGCAACTCTGTCAGGAAACATATGATTGCAGTAAAATTTACAATTATTGACTTATGTAACAAATTTGGATACAGATTTGACAGTATATCTTTTAAATGACAAAAACAGAAACAAAGCAAACTATCTTCCCACCTTGAAAGTATTTCAGAGGCTTTTTCCTGTGAAATTACAAGGAACTAGATACCGGGTCTCACAGCCCTCTCCTCATACCATCTTTGATCTTCTCTTCGCTGTGCAAGCAATCAAAGGCTTACCAAGGCCGGAGCTTCAGTGGTATCCTCATCTTTACTTCCTCTCCATGCCAATTTATATTACAAAATAAACCACTCCTGTCAATGGTCTTCAAAATGTCCCTTTGTAACTCCTTATGTCTTATAGATGAGAAATGTGAGACTCAAATTTTATATAACTAGTTCCTATTCACACACATTGTATTCCCAAGACAGTCTTGAGATACAAGTTTTCTTCCAGTGTAGAAATAGCATTTAGCTATTTCTAAATCTAGAAAATAAAATATATTCCATTAATTTTCTTGTCAGAGAAACAAGAAATTTTTCTGTTACAATATTTTGATACAAATCTGACCCATATTAACAAAGACAAAGAATTTAAACTTTCCTTGTTTGGTTCTAGTTTTTTTTTTTTTTTCTTAAAATGAGGATATTTTATTATTTCAGGTAATTTTCCCAGAGGTGAGAATAGTACATGGGAAATTCTCTTTAGGCCAGGTCTAGTATTACAGTGTGGTGCTCAAGGCCGCCCATCAGAACAGTGATACTCTCCCAACAGATTTCATCCACCCCGTCTCCACTAACTTTTGCCATAAAAATTCCTCTGAATTGTATCTTCTTGGAAGAAGTAAATATCTGTTCGACTATACAAAGAAACAGAGAAACCACTCCCATTGCAATCAATCTTCAAGAGAGGGAGCAGGCAAGCCGTGTTCTTTCTGCTGAGTTTTATAGACTCTGACAAGCTGTGAAATAAACATAAACAGAAGACAAAAC
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TATGTATAAATAAATACCATCTTTCTGGTTCCTAATGGAGTGTCATCATTGACTTTCATTGACTTTCTTCTGCTCCTATAATTTTCTCTGTGGCAATACCTCTCTTCAACTGCAAAAGATCTTGATATCCAGATATAATGGATTGTACTTTTTACCCAGGTGCCACTATCAGAGTTCTTTATCTCCCTGAACATATGATGTTCCATGCACAGGACCATGAACCAATCATGGTCAATGGAGGCGTTTTCCAGGCTAGTTTGGAAATTAGGAGATGCACAGGAGCTCACGGTAATGAACATGGGCCTGACAGTGCTCCAAAGCCATAAATGCCACCAACGAAAAAGGTTGGAACAAATATTTAAAAAGCCTTTTGTAATAAAGCAGAGATAAGGGTGGAGAAAGGATATATTTTTAGAGTTTTTATCAAATTCTTAATGTAGCCCTGGCTTTGATTTCCCATTATCATATCTAATATACCCTTTTGCATTAACTAGCCTGACTAGTTTTCAGTACCTTAAGACAAAAGTTATGAATGACACAAGAATTCATGGCTAAGCAAAAATAAAACCTCCAGTGTGAAAAGAGAGGAAGCAGAAGCAACAAGGTTTCCCATGAAGGTTTGTAGTTTAAGACATTCCCGGACTGAGTTCTTGCCCCTTGAAAAGAGGCAAGAAGATGGAAACTCATTGTGCACCCTATGTGCAGCAGGTTTTCTGGACACCACAGCTTCATGAAACTCTGTGTCTGTGAACATCCCAAGAGGTGAAATCAGGAATCATAAATAAGACCTTGTGCCTTCAAGGAGATGATTGTCATTTCCTCAAGTTTTTGAGGCAGAGGCTTTGAGGATTCTGCACTCTCTTTTCTTGTAGACATGCAATCACGGAAGTATGGATTCAAAATTGCTTTCTGTTCCATAGAAAGGAATTAGGAGTTATGTTTAGGGCTCTTCTTCCATGTTAAAATCCCTATGTCCTCCTAAGAAAAAGCTTAGTTCAAATCTCCATGAAAACAATATTTATGCTGAGAACAAAAGTGAAATTAATTTGATCACACAAGCTGCCTACCTTTACAGACACTGGAAAATGAATAAGATAGAGGTCAACATAGTCCAATTGAAGATTTTTCAGTGACCTTTCCAAGGCTGGTCGGACCAACTCTGGTCGATGGGAATTGCTCCAAAGCTGCAGAGGTTAGAGAAACGAAGTTGTGTAATGAAAACTTGAGCCAGTTTTACTAGTTTGCTCCACCTAATATTTAGACATTTTCTACTACTTCAAAACTAATGACCACAGGCAAAATTATTCTCTCTCTTCTTGTGATGCCTTTTGTTCTGCCATATCATGATGAACTTTATAATATGTTGGATATATAGTTAGTACATATATTGAATGAAAGAGTGAAATTACTCAAAAGGTAAAAGTTGTTATCAAATCATAAGCATACCCATTATCTGAATTATCTTTGGTAAGTTTTACAACTCATATTAGTGGTGTAATTATTTCATCTATTCAGCCCAATGGGCAAGACTAAGTATCTTTGTGGTTTGGAAACTGAGGAGGCAAACACAGTTTTTAATATGTTAACTTGGGCTGGATGCAATTTAAAACAATGTAGGTATCACTCTTTTATACTCACTGAGCTCTCTTATATCGCTTTCTCTCTCTCTCTGATCAAAATGACAATGGAAACTCAGAATCATAACAAATGTAAGAAACTCACCCAGGAGGTAACAGATAACATAATATGATTAAGATTATCTCTCATTCTATAGTCTATGTTAAACCATATTGATCTGTGCTGAGCTCGAAGAGTAAAGGCACTTTGAAGGCATGAATTGGAACACTGCAAAGATGAGAAAGCCATCTTCACTTCCTGCCTTTGATATTAGTTTTAATACATGAGTAAGTGTGAATAAATCGAAATAAATAAGCACAATTCACCCTCAACTATGGATCCAGTCATAGAACTGCCACCTCCACACAATCACAATAAATACATGTGCACACAAGCTCATCATAGGCACAGTACCTTTGAAGTGTAGAATACGTCTTCTCTCTTCACACTGCCATCTGCAATCTTGCTTCGGATGGCCAGTCCAACCTGCTCCTCATTATTGTAAACATGTGCAGAATCAATATGGTGGAACCCGGCTTCTATTGCCAATTTGACGGCCTCTAGAGCTTTACTTTTAGGAACCTGGGGGAGCAACCAAACGTAATATTTTCTGACTAATGTGCCTGAGAGTTAGTTCGGGCACAAGCAGCAACGTTCACAAAAATCAGCTTTTCCTCCTTTCTTGGATGAGCTCTGTATGTAGAATCATAAGCCCATCCCAGTCTGACTGGGTCTTTCCCATTTAGTAATAAAGGTTGGGCATAGCAGGAACTTCTGCAGTCCCAGAAAAATCACTGCTTGACCACTAGCTTGGAAGTGTCCCCAAAACAATTTCACTTTCAGTGATTTTTTGGAAAAATCAACAGGACGCAACTATAGTTACAGACATAATCTTAATTATTTTTAGTATGGTGAAATTAACACAAGGAAATAGCCACATGGAAGGAATTATGAAGGAATGCAGTGTAAGCTCCTGTGATTCCTCTCCCACCATGTTGCACAGAGCGCACTGACTTTATCCAGCATCATATTTTGTCAATGTATGTGAACTGTTGTCTACAAGAGATGCCCTCTACATACTCCATTGCTAAGATTTTGTCTGGGACTGGATACATTGACTCACTCTGCCTAGCAGACACAAATCTTCCAGTCTCCAAAAGCAAAGCAGGTGCACAGAAACCCCACAGTTTACACAAACAGTTACGTAGAGCCACCATTCTTATCAGTTAGGAAACAGGGAGAACTCCACTTTCTCAGATGCCAGCAGGTTTATATTGGAAATAGGCACATCTATGGATAGCAGTCTATTATGTTAGATCTTTTCTACCCAGGTTTTGGCCATTCTGTCTGCATAACAGAACCAAATACTAGGAGTAAAGATGTATACTCTAAGGATATTGATTTGTGTATGTAAGAAATAGGCTGCAGGGAGTAAGTGATTAGCAAAATGGGGTTCAGCTCCATAAATTCAAGGCAACTCTGTCAGGAAACATATGATTGCAGTAAAATTTACAATTATTGACTTATGTAACAAATTTGGATACAGATTTGACAGTATATCTTTTAAATGACAAAAACAGAAACAAAGCAAACTATCTTCCCACCTTGAAAGTATTTCAGAGGCTTTTTCCTGTGAAATTACAAGGAACTAGATACCGGGTCTCACAGCCCTCTCCTCATACCATCTTTGATCTTCTCTTCGCTGTGCAAGCAATCAAAGGCTTACCAAGGCCGGAGCTTCAGTGGTATCCTCATCTTTACTTCCTCTCCATGCCAATTTATATTACAAAATAAACCACTCCTGTCAATGGTCTTCAAAATGTCCCTTTGTAACTCCTTATGTCTTATAGATGAGAAATGTGAGACTCAAATTTTATATAACTAGTTCCTATTCACACACATTGTATTCCCAAGACAGTCTTGAGATACAAGTTTTCTTCCAGTGTAGAAATAGCATTTAGCTATTTCTAAATCTAGAAAATAAAATATATTCCATTAATTTTCTTGTCAGAGAAACAAGAAATTTTTCTGTTACAATATTTTGATACAAATCTGACCCATATTAACAAAGACAAAGAATTTAAACTTTCCTTGTTTGGTTCTAGTTTTTTTTTTTTTTTCTTAAAATGAGGATATTTTATTATTTCAGGTAATTTTCCCAGAGGTGAGAATAGTACATGGGAAATTCTCTTTAGGCCAGGTCTAGTATTACAGTGTGGTGCTCAAGGCCGCCCATCAGAACAGTGATACTCTCCCAACAGATTTCATCCACCCCGTCTCCACTAACTTTTGCCATAAAAATTCCTCTGAATTGTATCTTCTTGGAAGAAGTAAATATCTGTTCGACTATACAAAGAAACAGAGAAACCACTCCCATTGCAATCAATCTTCAAGAGAGGGAGCAGGCAAGCCGTGTTCTTTCTGCTGAGTTTTATAGACTCTGACAAGCTGTGAAATAAACATAAACAGAAGACAAAAC
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Task1_train_13642
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A mutation in IL2RA (interleukin 2 receptor subunit alpha), located on Chromosome 10, is being studied. Determine whether it’s pathogenic or benign, and specify the linked disease.
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Pathogenic; Immunodeficiency due to CD25 deficiency
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AAGAGAGACACTCCTGCTACCGTGACTTTAGGACAGCACGAGGCTAAAGGAAGTCAGGGTGTCTCTGTGAATGAGAAGCTCAGAGGCTGGTGGGAGACACGTGGTGGTGGTGAGGGAAGGTGTTCCATCTCTGCCTGGGGACCGTGCTTGGTCCTGGTCCTGGGTTCCCTCTTTCTGACACTTGCTTTGGGGCCTGCAGGTTGCTGAGGCCCTGTCCCTGCTCAGAGGGAGAGGAGGCTGCTGTGGGCTTCTCCCCTACAGGTCACCTCCGCCTATCTCCCTGAGCCTGGCTCCTGGTCACCTCTGCCCTTTTGGACTAGGCCTCTGTGGTCCAGCGTTTGTCTTCTCCCGCACCTGTTGTTGTGACGAGGCAGGAAGTCTCACTCTCAGGACGGCCTTCGGGGCTTGCCTGAGGCTTCTCTTCACCTGGGGGAGAGAGTAAGTGATGCTGGTGGAGCTAAACACAGGAGTCAGGGCCTCACTCCCACCCCGCCTGCCCCAGGCAGCCGGCCCCAGACACGCCCGAGGAGGCAGGAATCCTGGTGTGGGCACTTCGCCAGGGATGCCACCCCTCATGGTTCCACAGCAGGGGCACTGGGAAGCGGTGAAGTGGTCTCAGCAGAGCAGACGAGGCTGAATTCTAACTCTGACCCTAGCTGTCCCCAAAACTCTGAGCAATGCTTTCTCCCCAGCCTCCCTCCCCAGTCCTGGTTTCCATCTGTGACTTGGAAACAGGTCATAATAATACGAATGCCATTGAACCACTGGATGGAGCAGAGATGCACTAAGGGACAGCTGCTTCTGTGCCAGGCTCTCCACTTCTCCTGAGGGGTCAGCAACCCTGGCTCTGCCCTGCCTCTCACCCTCTTCCAAGGAAGCAGCAAGCATTCCCTGGCTGTCAGGGTGGCCCAGGGAAGCAGCTAAGGGAACAAAACAGCCTCCCTAGGGAACCCAAGAGAAGGACATGGAGTATGAGAAGTGCAGTGAGCAAGAAAACCAGGAATACTTGTGGTTGAATGTAAGTCACTTTTTTTTTTTGAGACGGAGTCTTGCTGTTGCCCAGGCTGGAGTGCAGTGGTGTGATCTCAGCTCACTGCAACTCCACCTCCTGGGTTCAAGTGATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGATTACAGGCACCCACCACCACGCCCAGATAATTTTTGTATTTTTAGTAGAGACGGGGTTTCACCATGTTGGCCAGGCTGGTCTCGAACTCCTGACCTAAAGTGATCTGCCCGCCTTGGCCTCCCAGAGTGCTGGGATTACAGGTGTGAGCCACTGTGCCCAGCCTGCATGTAAGTCACTTTTGATTGTCGTGATACTAATAAGATTTCAGAAGGAAGACAGCAGGAGACCTCGACATCGGTGGGCTGAGCATTTGCATGAGTATGTGTGTGTGTGTGTGTGTGTGCGCGCATGTGCACTGAGTAAGTCCCGACTCTGCACATTTTATGTTTATTTTTACAAGCTCAGCTGGGGAATGGCACAAGGGGAAGGAACATGCTGACCGTGGAGGGCTGTTCAGATCATGCATTTACACGATCACCAGTAAGAGGAAAAATGTGTGAGTGGGAAACTGGACTTGCCCTTGGAGCCAGAGGAGGCCTTGGTGGCTTAGAGAAGTAGTGGACTTAGGACCAACTACGAGGCAGCATCTAGGGTGCTTAGGAGAGGGCTTTCCTTCTCTTCTGTCTCCAACCTTTCTCCCCACTCAGGGCACAGGGGGACCTTCATTGAAGGAGCCCTTAGAGTCCATCTGATCTGGTCTATTTAAATTTTTTTTTTTTTCTCAGAATGAGAAAAAATGGAAGCCCAGGGAGATCAAGGGTCTTGTCCAAGGACCACTCTTGTCCAGCAGGAGTGGTCAGGGATTCCACTCTGGTCAGCCTGATGGAGCAAAGCAACATTGTGGACCCCAGAAGGGAGCCACCCTACCTGGAAACTGACTGGTCTCCATTTCACCTGTGCATATGAGCTGGGGCTGGGTCCACCTTGTCTTCCCGTGGGTCATTTTGCAGACGCTCTCAGCAGGACCTCTGTGTAGAGCCCTGTATCCCTGGACGCACTGATAATAAACCATCTGCCCCACCACGAAATGATAAATTCTCTCTGTGGCTTCATTTTCCCATGGTGGAGGTTCCCTGCAGTGACCTGGAAGATGGAAGGAATGCTCTGAAGGCAAGTTGGGGACAGCACCGCGAGTGAGTCCAGGTTGCCTCTTGCTAGGGACTGGACCTTGGTTCTTACTCTCTTGACTGCTTGCTCATCCTTTCATTCAACCAATATATGTTGAGAACGTCTGAGCGTGGGGAAGTTTGCTAGGCCCTGTAGGAAGGCACGAAGACCCTGTCACTCCTGCAAGGGGTGGACAGTGGATTGGGTAAGAAAGGCATGTGAAGGATAGCAGACGTTGGCAATGGGAACACAGAGGAATGAGCGATTCATTCTGGTTGGTGCGGCCCCGAGACAGGAACGCCACAACTGCCTCTTGGAAGACAGTGCAGGTGTTGACAGTGGACAGGAGTGGGCGGGGCAGTCTCAGCTGAGACACAAGGGTAGGCTCAAGCCTATTTGGGCCAATGGAGCATGAAGACCACCTTGGATTTCTGCTGGACAAGTGAGGAAGTGCATTCTTGGGGGCAGCGGCTGGGCATCTTGGGATGATGTCGGAAGGATTGGGGACAACACCAAAGCCAGGAGGAGGGACGGGCTGAGGGAACCTCAGAGAAATGGAGCACCATCTCTGATCAAGCCACACCTGAAGGTTGACACACATGCGCCCTTTCAAGACGTCTCAAAATTTCCCATCCCCAGAACTTTCCACTCACCCAACTACATCCCAGGCCTGACGGACCTGTGGCCTGAGACCATGTCTTGTTCTGATTAAATCTCTGAATTCCCCACCCACAGCCCCCAACCTGGACATATGGAATTGTATGTGCCCTCTAACCCCAGCCTGTGAAACTGCGCACGTGCTCTGAACTTCCAGACTCTCCCCAACCCTGCATACCCAACAGAGCCTCTGTAAATATCCTCCAGAGCCTCTTCCCCAGCAGGAAGCTGGGTGGCCCTGTCCCAGGCTGGCTCCTGCCATGTGGCACCTTGAACATCACGACTGAACTTGTGTTTTGGTCTCAGGATAAAAGGTTGTTTGACAGCCAGTACAATTCGTAACTGTCTGAACATGTTTGAATTGGGTTTGCTTCTTTCCAATGAAAACACCCAAACTGAGACAATCTTTGAAACATCCCTCAGGCAGAGCCAGCCTTCGAGAAAGGACAACAAGCATTGGCCTCTTTGAAGCCTTCCAATAACTGTGCAGGGTGATATGGGGGAAGTAGAACAAAACAAACAAATGTGCTTGGAAACACCATTCCAGGACAAAGTCGGAAGGGGAAGGAGTAAGAGCATCATGTTGCAACTGTGCCCCTAGATTAGTCTGTTTTAAAAAATAAAATAATGGAAGCTGTAAGTAAATTCAAACTCTTTTAAAATAAGTAATCAGCAGAAAGTTTCCTCATCTAATCTGGGAGACCTGAGGTCTGATTCCAGCCCTACTATGTGAGCTTAACCAAATCTTTTTATCTTTTGTGCATCTCAGTTTCTTCAGTAAGTTGAAGTAACCCTTCCTGGTCCTGACTCATTGTATAGCCAGGCTCAAATGGGATGGTATCTGATACAGTTCTTTGTAAGGTTGTAAAATCAGCAAAGGGCTCTGAAGTCTCCTAAGGCTAGCCTGACCTTAGAAAGCTCAATTCTTCCTAGCAGGTTCTGTGGGTTTTTTTTCTTTTTTGTTTTGTTTTTTTGAGGGGGGACAGAGTCTTCCTCTGTCACTCAGGCTGGAGTGCAGTGATGCAATCTCTGCTCACTGCAACCTCCACCTCCTGATTTCAAGCAATTCTCATGCCTTGGCCTCCTGAGTAGCTGGGACTACAGGCATCCACCACCATGCCCAGCTTAATTTTTGTATGATTGTAGAGACAAGGTTTCACCATGTTGGCCAGGCTGGTCTCGAACTCCTGACCTCAAGTGATCTGCCTGCCTCAGACTCCCACAGTGCTGGGATTAC
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AAGAGAGACACTCCTGCTACCGTGACTTTAGGACAGCACGAGGCTAAAGGAAGTCAGGGTGTCTCTGTGAATGAGAAGCTCAGAGGCTGGTGGGAGACACGTGGTGGTGGTGAGGGAAGGTGTTCCATCTCTGCCTGGGGACCGTGCTTGGTCCTGGTCCTGGGTTCCCTCTTTCTGACACTTGCTTTGGGGCCTGCAGGTTGCTGAGGCCCTGTCCCTGCTCAGAGGGAGAGGAGGCTGCTGTGGGCTTCTCCCCTACAGGTCACCTCCGCCTATCTCCCTGAGCCTGGCTCCTGGTCACCTCTGCCCTTTTGGACTAGGCCTCTGTGGTCCAGCGTTTGTCTTCTCCCGCACCTGTTGTTGTGACGAGGCAGGAAGTCTCACTCTCAGGACGGCCTTCGGGGCTTGCCTGAGGCTTCTCTTCACCTGGGGGAGAGAGTAAGTGATGCTGGTGGAGCTAAACACAGGAGTCAGGGCCTCACTCCCACCCCGCCTGCCCCAGGCAGCCGGCCCCAGACACGCCCGAGGAGGCAGGAATCCTGGTGTGGGCACTTCGCCAGGGATGCCACCCCTCATGGTTCCACAGCAGGGGCACTGGGAAGCGGTGAAGTGGTCTCAGCAGAGCAGACGAGGCTGAATTCTAACTCTGACCCTAGCTGTCCCCAAAACTCTGAGCAATGCTTTCTCCCCAGCCTCCCTCCCCAGTCCTGGTTTCCATCTGTGACTTGGAAACAGGTCATAATAATACGAATGCCATTGAACCACTGGATGGAGCAGAGATGCACTAAGGGACAGCTGCTTCTGTGCCAGGCTCTCCACTTCTCCTGAGGGGTCAGCAACCCTGGCTCTGCCCTGCCTCTCACCCTCTTCCAAGGAAGCAGCAAGCATTCCCTGGCTGTCAGGGTGGCCCAGGGAAGCAGCTAAGGGAACAAAACAGCCTCCCTAGGGAACCCAAGAGAAGGACATGGAGTATGAGAAGTGCAGTGAGCAAGAAAACCAGGAATACTTGTGGTTGAATGTAAGTCACTTTTTTTTTTTGAGACGGAGTCTTGCTGTTGCCCAGGCTGGAGTGCAGTGGTGTGATCTCAGCTCACTGCAACTCCACCTCCTGGGTTCAAGTGATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGATTACAGGCACCCACCACCACGCCCAGATAATTTTTGTATTTTTAGTAGAGACGGGGTTTCACCATGTTGGCCAGGCTGGTCTCGAACTCCTGACCTAAAGTGATCTGCCCGCCTTGGCCTCCCAGAGTGCTGGGATTACAGGTGTGAGCCACTGTGCCCAGCCTGCATGTAAGTCACTTTTGATTGTCGTGATACTAATAAGATTTCAGAAGGAAGACAGCAGGAGACCTCGACATCGGTGGGCTGAGCATTTGCATGAGTATGTGTGTGTGTGTGTGTGTGTGCGCGCATGTGCACTGAGTAAGTCCCGACTCTGCACATTTTATGTTTATTTTTACAAGCTCAGCTGGGGAATGGCACAAGGGGAAGGAACATGCTGACCGTGGAGGGCTGTTCAGATCATGCATTTACACGATCACCAGTAAGAGGAAAAATGTGTGAGTGGGAAACTGGACTTGCCCTTGGAGCCAGAGGAGGCCTTGGTGGCTTAGAGAAGTAGTGGACTTAGGACCAACTACGAGGCAGCATCTAGGGTGCTTAGGAGAGGGCTTTCCTTCTCTTCTGTCTCCAACCTTTCTCCCCACTCAGGGCACAGGGGGACCTTCATTGAAGGAGCCCTTAGAGTCCATCTGATCTGGTCTATTTAAATTTTTTTTTTTTTCTCAGAATGAGAAAAAATGGAAGCCCAGGGAGATCAAGGGTCTTGTCCAAGGACCACTCTTGTCCAGCAGGAGTGGTCAGGGATTCCACTCTGGTCAGCCTGATGGAGCAAAGCAACATTGTGGACCCCAGAAGGGAGCCACCCTACCTGGAAACTGACTGGTCTCCATTTCACCTGTGCATATGAGCTGGGGCTGGGTCCACCTTGTCTTCCCGTGGGTCATTTTGCAGACGTTCTCAGCAGGACCTCTGTGTAGAGCCCTGTATCCCTGGACGCACTGATAATAAACCATCTGCCCCACCACGAAATGATAAATTCTCTCTGTGGCTTCATTTTCCCATGGTGGAGGTTCCCTGCAGTGACCTGGAAGATGGAAGGAATGCTCTGAAGGCAAGTTGGGGACAGCACCGCGAGTGAGTCCAGGTTGCCTCTTGCTAGGGACTGGACCTTGGTTCTTACTCTCTTGACTGCTTGCTCATCCTTTCATTCAACCAATATATGTTGAGAACGTCTGAGCGTGGGGAAGTTTGCTAGGCCCTGTAGGAAGGCACGAAGACCCTGTCACTCCTGCAAGGGGTGGACAGTGGATTGGGTAAGAAAGGCATGTGAAGGATAGCAGACGTTGGCAATGGGAACACAGAGGAATGAGCGATTCATTCTGGTTGGTGCGGCCCCGAGACAGGAACGCCACAACTGCCTCTTGGAAGACAGTGCAGGTGTTGACAGTGGACAGGAGTGGGCGGGGCAGTCTCAGCTGAGACACAAGGGTAGGCTCAAGCCTATTTGGGCCAATGGAGCATGAAGACCACCTTGGATTTCTGCTGGACAAGTGAGGAAGTGCATTCTTGGGGGCAGCGGCTGGGCATCTTGGGATGATGTCGGAAGGATTGGGGACAACACCAAAGCCAGGAGGAGGGACGGGCTGAGGGAACCTCAGAGAAATGGAGCACCATCTCTGATCAAGCCACACCTGAAGGTTGACACACATGCGCCCTTTCAAGACGTCTCAAAATTTCCCATCCCCAGAACTTTCCACTCACCCAACTACATCCCAGGCCTGACGGACCTGTGGCCTGAGACCATGTCTTGTTCTGATTAAATCTCTGAATTCCCCACCCACAGCCCCCAACCTGGACATATGGAATTGTATGTGCCCTCTAACCCCAGCCTGTGAAACTGCGCACGTGCTCTGAACTTCCAGACTCTCCCCAACCCTGCATACCCAACAGAGCCTCTGTAAATATCCTCCAGAGCCTCTTCCCCAGCAGGAAGCTGGGTGGCCCTGTCCCAGGCTGGCTCCTGCCATGTGGCACCTTGAACATCACGACTGAACTTGTGTTTTGGTCTCAGGATAAAAGGTTGTTTGACAGCCAGTACAATTCGTAACTGTCTGAACATGTTTGAATTGGGTTTGCTTCTTTCCAATGAAAACACCCAAACTGAGACAATCTTTGAAACATCCCTCAGGCAGAGCCAGCCTTCGAGAAAGGACAACAAGCATTGGCCTCTTTGAAGCCTTCCAATAACTGTGCAGGGTGATATGGGGGAAGTAGAACAAAACAAACAAATGTGCTTGGAAACACCATTCCAGGACAAAGTCGGAAGGGGAAGGAGTAAGAGCATCATGTTGCAACTGTGCCCCTAGATTAGTCTGTTTTAAAAAATAAAATAATGGAAGCTGTAAGTAAATTCAAACTCTTTTAAAATAAGTAATCAGCAGAAAGTTTCCTCATCTAATCTGGGAGACCTGAGGTCTGATTCCAGCCCTACTATGTGAGCTTAACCAAATCTTTTTATCTTTTGTGCATCTCAGTTTCTTCAGTAAGTTGAAGTAACCCTTCCTGGTCCTGACTCATTGTATAGCCAGGCTCAAATGGGATGGTATCTGATACAGTTCTTTGTAAGGTTGTAAAATCAGCAAAGGGCTCTGAAGTCTCCTAAGGCTAGCCTGACCTTAGAAAGCTCAATTCTTCCTAGCAGGTTCTGTGGGTTTTTTTTCTTTTTTGTTTTGTTTTTTTGAGGGGGGACAGAGTCTTCCTCTGTCACTCAGGCTGGAGTGCAGTGATGCAATCTCTGCTCACTGCAACCTCCACCTCCTGATTTCAAGCAATTCTCATGCCTTGGCCTCCTGAGTAGCTGGGACTACAGGCATCCACCACCATGCCCAGCTTAATTTTTGTATGATTGTAGAGACAAGGTTTCACCATGTTGGCCAGGCTGGTCTCGAACTCCTGACCTCAAGTGATCTGCCTGCCTCAGACTCCCACAGTGCTGGGATTAC
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Task1_train_13643
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A variant on Chromosome 10 in gene IL2RA (interleukin 2 receptor subunit alpha) has been observed. Is this a neutral mutation, or does it result in a disease? If so, which one?
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Pathogenic; Immunodeficiency due to CD25 deficiency
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TATCAGCAGGGCCTGGCACACAGACCCAACAGACGCTTTTAAGTTGAGTTGAATTTGGGTTGAATTCTATTTGGCCAGTTACCAAACCAGGGAGTAAGCCCAGACCTGGATTGGCTGCCGTCAGATTGGCTTTAGTTGCTGAGCAAACAGCCTCTGAGCAACTCTGCACTAATTCTTGTCTGCAATGATGTCTTGGGAGGACGGAGCCACATGCATGTGTTTATAGAAGGCAGGGCAGACCTTCTTCCTTTGGGTACACATCATCTGCCTGCAGGAGAAGGGTGCGCTAGCAGGAGTTAGCTGGAGGACAGATTCATCTCTCACCTGGAAGGCTCGCTTGGTCCACTGGCTGCATTGGACTTTGCATTTCTGTGGTTTTCCTTTCTTTCTGTTCTTCAGGTTGAGGTGTCACTTGTTTCGTTGTGTTCCGAGTGGCTAGAAAATATAGATGGAATGATGCAGATAATTTCACAAATGCTTCATAGAAAACACTGTTCATGTATTCATTCACTTGAGAAGCACACCTGTCCAGGGCCCACGATGTGTCTGGTGGTGTCTGGCTGCTGAGCTTACAAATACGAAACCAGAGTATGCCCTCCCAGCACCGGCCTCTGGGTATTCAAGTGCATATGGCAATGCCCACGACATGTTTTTGAGCGTGTGTATACGTGTCTGTGCATGTCATGTATGTTACGTGTCTGTGTATGCCATGTATGTTACGTGTCTGTGTATGTCATGTATGTTATGTGTGCATGTGTGTGTCTCTCACCAAAAGGGACTCCTTGCTTGCTGTCAATTGTCTCTGTGTTGTTTGACAGCAGCAGGAGTGGTCTCACTCCACAACACACTGATCCTTTGCTCCCTAAGGCTGTTCAGAATGCTTGAAGTTAGAGACGCCATCTTAACACAATGACAAGGAAACTTCTAGAACAGCCCTCTCTATTGTGAAGAGTTTGGCAAAGGAGTTGAGTCTGAGTGCCCCAGTGAGGGGGGTGATCAGTATTCCAGCTCAGGATAAAAGAGGGTGTCTAGGTCAGGTGTGGTGGCTCACACCTATAATTCCAGCACATTGGGAGGCTGAGGCAGGAGGACTGCTTGAGCCCAGGAGTTTAAGACCAGCCTGGACAACATGGGGAAACCCCATCACTAACAAAAAATACAAAATATTAGCCAGGCATGGTGGTGTGCGCCTATAAGGCCCAGGCAGGAGAATCACTTGAGGCCAGGAGTTCGAGACCAGCCTGGCCAACATGGCGAAACCCCATCTTTGCTAAAAATAAAAAAATTAGCCAGGCATGGTGGTGCACACCTGTAGTCCCAGCTACTTGGGCAGCTGTGGCACAAGATTCACTTGAACCCAGGAGGTGGAGGTTGCAGTGATCTGAGATTGTACCACCGCACCCCAGCCTGGGCAACAGAGCGAGACTGTCTCAAAAATAAAAATAAAATTGTGTGGCCGGGCACTGTGACTCATGCCTGTAATCCCAGCATTTTGGGTGGCTGAGATGGGCAGATTACTCAAGGTCAGGAGTTTGAGACCAGCCTGGCCAACATGGTGAAACCCCATCTCTACTAAAAATGCAAAAATTAGCCAGGCATGGTGGAGGGTGCCTGTAATCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATCACTTGAAGCCAGGAGGCGGAAGTTGCAGTGAGCCGAGATCGCGTGCCATTGCACTCCAGCCTAGGCAACAGAGTGAGAGTCTGTCTCCAAAAAAAAAAAAAATTGTGTTTAGTGAATGACTTTTCAGGAACCACTAAAATTAGTTATCCTGTAGACTGGACTGGCCCATTTGTGTCTATAGGGCTGAGTGAACAAAAGCTGGGCTCTGTCTCACTCTTTGCTGCAGTTCTTTTGTTCTTGGTAGTCACAGAAGGGACACTTACCAGAGCTTGTGCATTGACATTGGTTGTCCCAGGACGAGTGGCTAGAGTTTCCTGTACAGAGCATATAGAGTGACCCGCTTTTTATTCTGCGGAAACCTCTCTTGCATTCACAGTTCAACATGGTTCCTTCCTTGTAGGCCATGGCTTTGAATGTGGCGTGTGGGATCTCTGGCGGGTCATCGTCACAGAGCTCTGCAAAGCAAAAGAAGCCTATTAGGAACTCAAGAGGCCCCAGGCAAGTACTCACATATTTAATCCTATAATGACTTAATCACATATTTCTTCACTTTATTTAAAAGATGGTATGCCCTACTTTTTGTGAGAAAGCAACTAAGGCTGCTACCATTGTTCTTTAGAAAGCTTTGTATCAGAGCTGGCTCAAAAATTAACTACAACCAAGCTCCTCTCCAAAGCACAATGTATTTCAAACTAGATGAGTAGAAATTAACAAGGTTTTATTCCGAATATGCCTCATGTCAAGCAAGTATGGAGAGAGGAGGGTCAAGGAATGTGAAGAAAGGAAGAAGCAAAGTTACGTACATTTAATTGAGGGGCAAAATATGTCTGTGCAAGATACTTTTAAGGATATACGAGTTGTTAGACTTTCTATAATTAATGACTGTGCGCCATTTTTTGAGAAATATACAGAAAGTGCTTCACTCAATGTCTGGCAAATAGGAAATGTGTATTTCTCACCCACCTGCCCACCTCTGAGTTCACCAAATACCTTCTTATATTATGAAGACCTTAGCCTCCCTCAGCCTGAAAAATGGACTCTGGTATCTCACTAAAGGCACCAGAAGCAGTGGTCAAACATCAAACTATTAAAAGGAAAAGTGGCACAGGTCTAATCAGAAAAATAATTCCATTGCCTACTTTGCAACAAGTTCTCTGCTCTAAGAGATTAGATTTTGGGGGGAAATATCACATGCTGGATAAAGGAAGTGGACGGGGAGATGACAGGGACAGGAAGAGGCAGGAAAGCAGGAGTCTGTGGCCTCTCCGTCAATGGAAGCCCACACGGAGGCTGATCAGGGCTGCTGGCTGTACTTATGGCTGTGGGTTGGCCGGTTGTGTATTGGTCATTCAGGTTAAGTGAAGCTTCTCTGTGCCCTTAGACTCTGCCCAGCACCTTGTCCTCCGGAAGACCATCCCCATCCAATGGCTCAGGACTCTCCTGTCTCCCCTAAGAACTGAAGGTAGGGAGGCTGGGTGCAATGGCTCATGCCTGTAATTCCAGCACTTTGGGAGGCCAAGGCGGGTAGATCACATGAGGTCAGCAGTTCAAAACCAGCCTGGCCAGCATGGTGAAAACCACAGTCTCTACTAAAAATACAAAAAAATTAGCCGGGCGTGGTGGCATGTGCCTGTGGTCCCAGTTACTTGGGAGGCTGAGGCAGGAGAATCACTTGAACCCAGGAGGCAGAGGTTGCAGTGGGCCGAGATCACGCCACTGCACTCCAGCCTGGGAAACCCAGCAAGACTCTGTCTCAAAAAAAAAAACGAAGATAGGGAGAAATCAGACAGCTTGGCCCATCTCTAACCAACAAGGGACTAAGCAAAAGCAATTTAAATGGGCTCCATGGGCCAGAAATTACAGTGGAACAGGCAACATAAGTGCTCAATAAATGCTGGTAATCTCATGATAAGGCAAGAGCAGCAGCATGGTGGGAAGGAGAAAGATGGGTTTCTAACTTCTAGCTCCAGCAGCTTACAAGCTACATAGTTTTATTATTTTACTTCTCTAAGGCTCAGCTTCGTGCTGTAATAATTATTATTTTATTGATTTAATGATTATAGCAAATAATATACTAAGGTAACTTGAAGAAAGCCTGGAAAATAACAGGTATGGAATAGATGGTAGTTCTGTTCCTTTCCTTTTTCTCACTGTCCAGAAGAAGAGAATGGTAATTCAGATAGAGACTGGACTGAAGTTTACCTTAACCTTTAACTCCTGCAAAAGTTTGTCTCTCTGTACTTCTCATATCACTGGTACCATTTGTTGGCACTTATTATGGATCAACACCAACCAATATTTTAAGTATCAGAAGATAAATCTGTTACTAAAGCAAGACATGGATAATAATCAGAAAAACCAGTGAAGACTTCTGCTTCCAGCCATCACAGAGTAACTGGGACCAAAACTTACGTTTCTGCTGAAACAGCTGTAAAACCAGTCCAA
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TATCAGCAGGGCCTGGCACACAGACCCAACAGACGCTTTTAAGTTGAGTTGAATTTGGGTTGAATTCTATTTGGCCAGTTACCAAACCAGGGAGTAAGCCCAGACCTGGATTGGCTGCCGTCAGATTGGCTTTAGTTGCTGAGCAAACAGCCTCTGAGCAACTCTGCACTAATTCTTGTCTGCAATGATGTCTTGGGAGGACGGAGCCACATGCATGTGTTTATAGAAGGCAGGGCAGACCTTCTTCCTTTGGGTACACATCATCTGCCTGCAGGAGAAGGGTGCGCTAGCAGGAGTTAGCTGGAGGACAGATTCATCTCTCACCTGGAAGGCTCGCTTGGTCCACTGGCTGCATTGGACTTTGCATTTCTGTGGTTTTCCTTTCTTTCTGTTCTTCAGGTTGAGGTGTCACTTGTTTCGTTGTGTTCCGAGTGGCTAGAAAATATAGATGGAATGATGCAGATAATTTCACAAATGCTTCATAGAAAACACTGTTCATGTATTCATTCACTTGAGAAGCACACCTGTCCAGGGCCCACGATGTGTCTGGTGGTGTCTGGCTGCTGAGCTTACAAATACGAAACCAGAGTATGCCCTCCCAGCACCGGCCTCTGGGTATTCAAGTGCATATGGCAATGCCCACGACATGTTTTTGAGCGTGTGTATACGTGTCTGTGCATGTCATGTATGTTACGTGTCTGTGTATGCCATGTATGTTACGTGTCTGTGTATGTCATGTATGTTATGTGTGCATGTGTGTGTCTCTCACCAAAAGGGACTCCTTGCTTGCTGTCAATTGTCTCTGTGTTGTTTGACAGCAGCAGGAGTGGTCTCACTCCACAACACACTGATCCTTTGCTCCCTAAGGCTGTTCAGAATGCTTGAAGTTAGAGACGCCATCTTAACACAATGACAAGGAAACTTCTAGAACAGCCCTCTCTATTGTGAAGAGTTTGGCAAAGGAGTTGAGTCTGAGTGCCCCAGTGAGGGGGGTGATCAGTATTCCAGCTCAGGATAAAAGAGGGTGTCTAGGTCAGGTGTGGTGGCTCACACCTATAATTCCAGCACATTGGGAGGCTGAGGCAGGAGGACTGCTTGAGCCCAGGAGTTTAAGACCAGCCTGGACAACATGGGGAAACCCCATCACTAACAAAAAATACAAAATATTAGCCAGGCATGGTGGTGTGCGCCTATAAGGCCCAGGCAGGAGAATCACTTGAGGCCAGGAGTTCGAGACCAGCCTGGCCAACATGGCGAAACCCCATCTTTGCTAAAAATAAAAAAATTAGCCAGGCATGGTGGTGCACACCTGTAGTCCCAGCTACTTGGGCAGCTGTGGCACAAGATTCACTTGAACCCAGGAGGTGGAGGTTGCAGTGATCTGAGATTGTACCACCGCACCCCAGCCTGGGCAACAGAGCGAGACTGTCTCAAAAATAAAAATAAAATTGTGTGGCCGGGCACTGTGACTCATGCCTGTAATCCCAGCATTTTGGGTGGCTGAGATGGGCAGATTACTCAAGGTCAGGAGTTTGAGACCAGCCTGGCCAACATGGTGAAACCCCATCTCTACTAAAAATGCAAAAATTAGCCAGGCATGGTGGAGGGTGCCTGTAATCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATCACTTGAAGCCAGGAGGCGGAAGTTGCAGTGAGCCGAGATCGCGTGCCATTGCACTCCAGCCTAGGCAACAGAGTGAGAGTCTGTCTCCAAAAAAAAAAAAAATTGTGTTTAGTGAATGACTTTTCAGGAACCACTAAAATTAGTTATCCTGTAGACTGGACTGGCCCATTTGTGTCTATAGGGCTGAGTGAACAAAAGCTGGGCTCTGTCTCACTCTTTGCTGCAGTTCTTTTGTTCTTGGTAGTCACAGAAGGGACACTTACCAGAGCTTGTGCATTGACATTGGTTGTCCCAGGACGAGTGGCTAGAGTTTCCTGTACAGAGCATATAGAGTGACCCGCTTTTTATTCTGCGGAAACCTCTCTTGCATTCACAGTTCAACATGGTTCCTTCCTTGGAGGCCATGGCTTTGAATGTGGCGTGTGGGATCTCTGGCGGGTCATCGTCACAGAGCTCTGCAAAGCAAAAGAAGCCTATTAGGAACTCAAGAGGCCCCAGGCAAGTACTCACATATTTAATCCTATAATGACTTAATCACATATTTCTTCACTTTATTTAAAAGATGGTATGCCCTACTTTTTGTGAGAAAGCAACTAAGGCTGCTACCATTGTTCTTTAGAAAGCTTTGTATCAGAGCTGGCTCAAAAATTAACTACAACCAAGCTCCTCTCCAAAGCACAATGTATTTCAAACTAGATGAGTAGAAATTAACAAGGTTTTATTCCGAATATGCCTCATGTCAAGCAAGTATGGAGAGAGGAGGGTCAAGGAATGTGAAGAAAGGAAGAAGCAAAGTTACGTACATTTAATTGAGGGGCAAAATATGTCTGTGCAAGATACTTTTAAGGATATACGAGTTGTTAGACTTTCTATAATTAATGACTGTGCGCCATTTTTTGAGAAATATACAGAAAGTGCTTCACTCAATGTCTGGCAAATAGGAAATGTGTATTTCTCACCCACCTGCCCACCTCTGAGTTCACCAAATACCTTCTTATATTATGAAGACCTTAGCCTCCCTCAGCCTGAAAAATGGACTCTGGTATCTCACTAAAGGCACCAGAAGCAGTGGTCAAACATCAAACTATTAAAAGGAAAAGTGGCACAGGTCTAATCAGAAAAATAATTCCATTGCCTACTTTGCAACAAGTTCTCTGCTCTAAGAGATTAGATTTTGGGGGGAAATATCACATGCTGGATAAAGGAAGTGGACGGGGAGATGACAGGGACAGGAAGAGGCAGGAAAGCAGGAGTCTGTGGCCTCTCCGTCAATGGAAGCCCACACGGAGGCTGATCAGGGCTGCTGGCTGTACTTATGGCTGTGGGTTGGCCGGTTGTGTATTGGTCATTCAGGTTAAGTGAAGCTTCTCTGTGCCCTTAGACTCTGCCCAGCACCTTGTCCTCCGGAAGACCATCCCCATCCAATGGCTCAGGACTCTCCTGTCTCCCCTAAGAACTGAAGGTAGGGAGGCTGGGTGCAATGGCTCATGCCTGTAATTCCAGCACTTTGGGAGGCCAAGGCGGGTAGATCACATGAGGTCAGCAGTTCAAAACCAGCCTGGCCAGCATGGTGAAAACCACAGTCTCTACTAAAAATACAAAAAAATTAGCCGGGCGTGGTGGCATGTGCCTGTGGTCCCAGTTACTTGGGAGGCTGAGGCAGGAGAATCACTTGAACCCAGGAGGCAGAGGTTGCAGTGGGCCGAGATCACGCCACTGCACTCCAGCCTGGGAAACCCAGCAAGACTCTGTCTCAAAAAAAAAAACGAAGATAGGGAGAAATCAGACAGCTTGGCCCATCTCTAACCAACAAGGGACTAAGCAAAAGCAATTTAAATGGGCTCCATGGGCCAGAAATTACAGTGGAACAGGCAACATAAGTGCTCAATAAATGCTGGTAATCTCATGATAAGGCAAGAGCAGCAGCATGGTGGGAAGGAGAAAGATGGGTTTCTAACTTCTAGCTCCAGCAGCTTACAAGCTACATAGTTTTATTATTTTACTTCTCTAAGGCTCAGCTTCGTGCTGTAATAATTATTATTTTATTGATTTAATGATTATAGCAAATAATATACTAAGGTAACTTGAAGAAAGCCTGGAAAATAACAGGTATGGAATAGATGGTAGTTCTGTTCCTTTCCTTTTTCTCACTGTCCAGAAGAAGAGAATGGTAATTCAGATAGAGACTGGACTGAAGTTTACCTTAACCTTTAACTCCTGCAAAAGTTTGTCTCTCTGTACTTCTCATATCACTGGTACCATTTGTTGGCACTTATTATGGATCAACACCAACCAATATTTTAAGTATCAGAAGATAAATCTGTTACTAAAGCAAGACATGGATAATAATCAGAAAAACCAGTGAAGACTTCTGCTTCCAGCCATCACAGAGTAACTGGGACCAAAACTTACGTTTCTGCTGAAACAGCTGTAAAACCAGTCCAA
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Task1_train_13644
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This gene mutation involves GATA3 (GATA binding protein 3) on Chromosome 10. Is it associated with any clinical condition, or is it benign?
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Pathogenic; Hypoparathyroidism, deafness, renal disease syndrome
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GGGCCTGCAGTCCTAGCTGGGACAGGGCCAGTGCTGCCCCAGAAGGGGCTGACCCAGCAGCCACCAGCGACACAAAAAGGCAGGCCTGCGGCCTGGCTTGGGCTGCAGCCGGTTACTCGCCCACTCACCCTTCACTCTTTCCTTCCAGCCTCCCCCACATCCAGTCTGCCACATCCCTCAGGCTTTTGACCCCAACTGAAAGGTGTCTGGGTGTGATTCAGGCCTGAGCCTTTTTCAAGAACTGAGAAGAGCCGTTGGGTACTTAGGAAGGCGCCTTTGGCATGCACTGCAGCGTGTTTGTGTTTAATCTCAGGGGTTCTGGGGCACAGCAAAGGCTCTCTGGGGACCCTAGGCTAAGAATCTTTTGGAATGTGGAGCAAAAAAAAAAACCTCTCTTACATCCTCATTTTTTTTTTTTTTTTAAAAAACAAAGTAGACAAAAACTAGTGGGCACCATCCCTGACTTTCAAGGGTGCAAGACCCTCTTCCATTTGCAAAAGTCTTTAACTTTCCTGAAGAACTTACCCCTGGAGAGTATCACAGGCCCCCAAGTGTGAACCCCCCTAGTTCCCTCCTACTTGATCTGGGGCTTTCCAAAGGCCCAATAGGTCCCATATCTGCCAAGGCAGATTTTTCCTCCTTTTAGGGGAATCAAAATTCTCAAGCACCCTACTGGGTTCTCTTCTTCTACCCCAGTGGTCCGGGCAGGTTGGAGGTCATTAATTACTCTCTTAAAACAAAACAGTCTTCAGAGCTCATTTTTCTTCCCTACCTACCCTCCGGGGTCCTCCTCTGGGCCTCCCCTCTCTGGGGGACCAACTTGAGTTAAGCCTCCTGTTCCTGCAAGGAAGGGGAGTCCTGGCTTTCTCTGGGCACCCAGAGAACTGGGCGCTAGAGACCCGTGTGTCCCTGGGTCCCCCAAAACCAAGGAGATTCTCCTAGAAAGCATCTTTCTCTTCCTCTTGCAAAGTTGAAATCAGTTAGCCAACTCCCCCATGTCTTGAAATGGTAATTTAAGGGATTCTTCCAAGGAGCTTTCTGGGTGGGTCTGGGTCGCTTTCCAGCCTGGGCTGAGGGAGTGAATGCTGCTCAGACTTCCTACCGGCCTGGCTGGTTTTTCGTTTATTTTGTTTGTTTGTGTTTTTGGGAAAAGAGAAACTGTAGGCAGGCCTTGGTTACTGAGCAGCCACCCCGCTTTGTTAACTTGCCTCTTCTCCTGATCTTCCTCTGATCGGCTTCACTCTGTCCTCCCAAACCTTCCCTTTTCCTTTTTCCCTCCCTCCCCCTCTTCCAGGTTCCCTGCCTAAAGTTTGCATTTCCCCCTTGCACCCCCTGGCTGGGGTCATACTTTAACTTCAGTCTCCGTAACAGCGGCTGGAAAGCTATGGAAACCCCTGCTGGGTCCTAATCGCTTCCTTTCCAGCCAGGGACATTTGCAGTTTGATTGGAAGTAAAATCTAAAACCCTAGCTAGTGAAATCAATCAGCCGATTGATCAATCTATGCATCTATTTATTATCTGTTCACCTATCTAGCCATTGATGAATCCTTCCTTTCCCCCATCCTAATCTTCATTATTTAATCAATCTCTATAGACAGACCCATGATGATAATGGGTCACCTTTGTCTTCCTTTTTTTCCTTTGAGGGAAATGAATGGAATGTTTGCCTTTTGCCACCATCCAGGGCTCAGGATTTTCTCAGGGAAGTATTTGTAGCTGGAATCTGCATTCCTCCTTGGTCCTGCCCGATCTTCTCCATCAAGTCGGGCAAGCCAAGAACAGGGTTCTGTTGCAACGATGCATCTGCCCCTTCTGCGGGCGCCTCCGTGTGTGTCGGGGGAACGGTCATGCCAGGACAGCATTCCCCAGCTCAACTTTGGAGCATCTTGGAAAGAGGTGGGGGTGGACACGCTCCCCAAAAGAGGAGGGAGAAGGAAAAAAGTTCTCCATTTTACGTTTCTCCCCCAGTTCCAAATGCTGTCAGCTTTCCTGCGTGTTTTCCTTCCCTAAGTGGCTTATCTGTGCTTTTGTTTCCAGAAGGCAGGGAGTGTGTGAACTGTGGGGCAACCTCGACCCCACTGTGGCGGCGAGATGGCACGGGACACTACCTGTGCAACGCCTGCGGGCTCTATCACAAAATGAACGGACAGAACCGGCCCCTCATTAAGCCCAAGCGAAGGCTGGTAAGTTCTCGGGAAGGGATGGATTCCATGCTGACCATTCTGGGTTTCTCATTTCCTCTCTTCCGGAAGGACAGCTTTCTGCAGGAAATTGACAGGATAGCCTCCAATCGTGTCAGCTGGCTTGGGACAGTTTTTTTTTTTTTCCTTTTTCTTTCTTTCTTTTCTTCTTCTTCTTTTTTTTTTTTTTTTTCAAATTTGATACACAGAACAGCTCTTTTCCCCTCTTTTTCCCCATCCATGTTTCTTAAGTCGCTTGTGAACATTTTAAGGAGACTGAATTCTTGGTTATCAAATCTGCAGTGTATTCCTGAATAGAATAATGGTATGAACAGGACCAGAGCAGCTGGTTTAAGTGCACTGATGAGCACCGTTTGACAGATAGAGACATTTAGTATGAGGACGGAATGTTCCAGAAACCATCCAGAATGGGTTCCTGAAGTTGTGGCGTGTGGCTTCCCAGGAAGGATTACAGACTCAGTGCAATGGATGGATTTGTTATGCTAATGCTTCAAAATGGTTGGAGCTGATTAAATGAATTTCAGAGGCTTCACCAGCAACCAGTGAGCCTAATGCCACTTTCCTCCTTTCTTGGTCTCAGCATTTGAGAACTTTCCACAGGCAATTCCTATGGGAAACGTCGTGTGAGTCCTCTCATACCTGGCATTTGGTCTTCTTTTCTCTTTGAACTACTACCAGTAAGGTGATAGTTTTTTCTCTCCTCTCTCATTATTCTTTTAAAAACTTTTTAAGCATGAGGGATCCTTGAGAAAACCTGGCTCTGTCAAGCATTTATAAGGAAGACAACTTATAGGGGACATTCATTTGCAAGCTCCTCTTTGGAAGTTTGAATAGTGAATGTATGTGACAGACAAATAACAACTCTAGCCACAGCTAAGAGATCAAAATGCTTTATGTGGTGCTGACATTCACCAAGTCGAGATGGGAGGAGGGGAATTTCCCCACGCAGATTAATGGATAAATTAGCATCCATCAATTTCTAAGGAAGGAAAAAGAACACCTCTGTATTCTTTTTAAAGAATACTTTGCCCTCCCCATCAGATTGTAGTGCAACTCAACACCTTTCACATCCTATTTTGAAGAAGGAAAAACTTTCTTTTTTTTTTTTTTTTTTTTTTTGAGACAGAGTCTCACTCTGTCACCCAGGCTGGAGTGCAGTGGCACGATCTCGGCTCACTGCAACCTCCACCTCCCGGGTTCAAGCAATTCTCCTGTCTCAGCCTCCTGAATAGCTGGGAGTAGGGACACCCGCCCCCACACCCGGCAAATTTTTGTATTTTCAGTAGAGACAGGGTTTCGCCTTTTTGGCCAGGCTGGTCTCAAACTCCTGACCTCAGGTGATCCACCGCCTCGGCCTCCCAGAGTGCTGGGATTACAGGCATGAGCCACCGCTCCCAGCCAAAGAAGGAAAACTTTCTAGGGATGGAAATGTCCACATGACTTTAATCTTTGACAATCCTGGATATCGAGGCTTTATTCTTTCTGATCTTTGCCCCCTTCTCCAACTTTCTCAACCTTCCCCCACCTCTCCTCCAGCAGTTTGGTTTTTTTTTTTTTTTTTTTTTTTTTCCTTTCTCTCATGTGCAAAGCTGACTTCCTAGGAAAAAGCTGCCGGATATCTGAGCACTGGAGATAACTCATAAACAACAACTCAGCTTCCCCAACCTAAACACCAAGATGTTTGAACGTATCAGAACAAGAAGTGTTTGAAAAAAAAAAAAAAAAAAGGCTAGAGGTGTTAGTGCAGAATGAATATGATCACACCACAAAAGAATGTTTTGAATCACTCAAAAACCTGGCCTTAGTAAAAAAAAAAAAAAAAAAAGAGAGAGAGAGAGAGAGGAAAAAAAAACAACAAACAAAAACCTTCTTGTTAAAATGTGTCTTGGTACCAT
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GGGCCTGCAGTCCTAGCTGGGACAGGGCCAGTGCTGCCCCAGAAGGGGCTGACCCAGCAGCCACCAGCGACACAAAAAGGCAGGCCTGCGGCCTGGCTTGGGCTGCAGCCGGTTACTCGCCCACTCACCCTTCACTCTTTCCTTCCAGCCTCCCCCACATCCAGTCTGCCACATCCCTCAGGCTTTTGACCCCAACTGAAAGGTGTCTGGGTGTGATTCAGGCCTGAGCCTTTTTCAAGAACTGAGAAGAGCCGTTGGGTACTTAGGAAGGCGCCTTTGGCATGCACTGCAGCGTGTTTGTGTTTAATCTCAGGGGTTCTGGGGCACAGCAAAGGCTCTCTGGGGACCCTAGGCTAAGAATCTTTTGGAATGTGGAGCAAAAAAAAAAACCTCTCTTACATCCTCATTTTTTTTTTTTTTTTAAAAAACAAAGTAGACAAAAACTAGTGGGCACCATCCCTGACTTTCAAGGGTGCAAGACCCTCTTCCATTTGCAAAAGTCTTTAACTTTCCTGAAGAACTTACCCCTGGAGAGTATCACAGGCCCCCAAGTGTGAACCCCCCTAGTTCCCTCCTACTTGATCTGGGGCTTTCCAAAGGCCCAATAGGTCCCATATCTGCCAAGGCAGATTTTTCCTCCTTTTAGGGGAATCAAAATTCTCAAGCACCCTACTGGGTTCTCTTCTTCTACCCCAGTGGTCCGGGCAGGTTGGAGGTCATTAATTACTCTCTTAAAACAAAACAGTCTTCAGAGCTCATTTTTCTTCCCTACCTACCCTCCGGGGTCCTCCTCTGGGCCTCCCCTCTCTGGGGGACCAACTTGAGTTAAGCCTCCTGTTCCTGCAAGGAAGGGGAGTCCTGGCTTTCTCTGGGCACCCAGAGAACTGGGCGCTAGAGACCCGTGTGTCCCTGGGTCCCCCAAAACCAAGGAGATTCTCCTAGAAAGCATCTTTCTCTTCCTCTTGCAAAGTTGAAATCAGTTAGCCAACTCCCCCATGTCTTGAAATGGTAATTTAAGGGATTCTTCCAAGGAGCTTTCTGGGTGGGTCTGGGTCGCTTTCCAGCCTGGGCTGAGGGAGTGAATGCTGCTCAGACTTCCTACCGGCCTGGCTGGTTTTTCGTTTATTTTGTTTGTTTGTGTTTTTGGGAAAAGAGAAACTGTAGGCAGGCCTTGGTTACTGAGCAGCCACCCCGCTTTGTTAACTTGCCTCTTCTCCTGATCTTCCTCTGATCGGCTTCACTCTGTCCTCCCAAACCTTCCCTTTTCCTTTTTCCCTCCCTCCCCCTCTTCCAGGTTCCCTGCCTAAAGTTTGCATTTCCCCCTTGCACCCCCTGGCTGGGGTCATACTTTAACTTCAGTCTCCGTAACAGCGGCTGGAAAGCTATGGAAACCCCTGCTGGGTCCTAATCGCTTCCTTTCCAGCCAGGGACATTTGCAGTTTGATTGGAAGTAAAATCTAAAACCCTAGCTAGTGAAATCAATCAGCCGATTGATCAATCTATGCATCTATTTATTATCTGTTCACCTATCTAGCCATTGATGAATCCTTCCTTTCCCCCATCCTAATCTTCATTATTTAATCAATCTCTATAGACAGACCCATGATGATAATGGGTCACCTTTGTCTTCCTTTTTTTCCTTTGAGGGAAATGAATGGAATGTTTGCCTTTTGCCACCATCCAGGGCTCAGGATTTTCTCAGGGAAGTATTTGTAGCTGGAATCTGCATTCCTCCTTGGTCCTGCCCGATCTTCTCCATCAAGTCGGGCAAGCCAAGAACAGGGTTCTGTTGCAACGATGCATCTGCCCCTTCTGCGGGCGCCTCCGTGTGTGTCGGGGGAACGGTCATGCCAGGACAGCATTCCCCAGCTCAACTTTGGAGCATCTTGGAAAGAGGTGGGGGTGGACACGCTCCCCAAAAGAGGAGGGAGAAGGAAAAAAGTTCTCCATTTTACGTTTCTCCCCCAGTTCCAAATGCTGTCAGCTTTCCTGCGTGTTTTCCTTCCCTAAGTGGCTTATCTGTGCTTTTGTTTCCAGAAGGCAGGGAGAGTGTGAACTGTGGGGCAACCTCGACCCCACTGTGGCGGCGAGATGGCACGGGACACTACCTGTGCAACGCCTGCGGGCTCTATCACAAAATGAACGGACAGAACCGGCCCCTCATTAAGCCCAAGCGAAGGCTGGTAAGTTCTCGGGAAGGGATGGATTCCATGCTGACCATTCTGGGTTTCTCATTTCCTCTCTTCCGGAAGGACAGCTTTCTGCAGGAAATTGACAGGATAGCCTCCAATCGTGTCAGCTGGCTTGGGACAGTTTTTTTTTTTTTCCTTTTTCTTTCTTTCTTTTCTTCTTCTTCTTTTTTTTTTTTTTTTTCAAATTTGATACACAGAACAGCTCTTTTCCCCTCTTTTTCCCCATCCATGTTTCTTAAGTCGCTTGTGAACATTTTAAGGAGACTGAATTCTTGGTTATCAAATCTGCAGTGTATTCCTGAATAGAATAATGGTATGAACAGGACCAGAGCAGCTGGTTTAAGTGCACTGATGAGCACCGTTTGACAGATAGAGACATTTAGTATGAGGACGGAATGTTCCAGAAACCATCCAGAATGGGTTCCTGAAGTTGTGGCGTGTGGCTTCCCAGGAAGGATTACAGACTCAGTGCAATGGATGGATTTGTTATGCTAATGCTTCAAAATGGTTGGAGCTGATTAAATGAATTTCAGAGGCTTCACCAGCAACCAGTGAGCCTAATGCCACTTTCCTCCTTTCTTGGTCTCAGCATTTGAGAACTTTCCACAGGCAATTCCTATGGGAAACGTCGTGTGAGTCCTCTCATACCTGGCATTTGGTCTTCTTTTCTCTTTGAACTACTACCAGTAAGGTGATAGTTTTTTCTCTCCTCTCTCATTATTCTTTTAAAAACTTTTTAAGCATGAGGGATCCTTGAGAAAACCTGGCTCTGTCAAGCATTTATAAGGAAGACAACTTATAGGGGACATTCATTTGCAAGCTCCTCTTTGGAAGTTTGAATAGTGAATGTATGTGACAGACAAATAACAACTCTAGCCACAGCTAAGAGATCAAAATGCTTTATGTGGTGCTGACATTCACCAAGTCGAGATGGGAGGAGGGGAATTTCCCCACGCAGATTAATGGATAAATTAGCATCCATCAATTTCTAAGGAAGGAAAAAGAACACCTCTGTATTCTTTTTAAAGAATACTTTGCCCTCCCCATCAGATTGTAGTGCAACTCAACACCTTTCACATCCTATTTTGAAGAAGGAAAAACTTTCTTTTTTTTTTTTTTTTTTTTTTTGAGACAGAGTCTCACTCTGTCACCCAGGCTGGAGTGCAGTGGCACGATCTCGGCTCACTGCAACCTCCACCTCCCGGGTTCAAGCAATTCTCCTGTCTCAGCCTCCTGAATAGCTGGGAGTAGGGACACCCGCCCCCACACCCGGCAAATTTTTGTATTTTCAGTAGAGACAGGGTTTCGCCTTTTTGGCCAGGCTGGTCTCAAACTCCTGACCTCAGGTGATCCACCGCCTCGGCCTCCCAGAGTGCTGGGATTACAGGCATGAGCCACCGCTCCCAGCCAAAGAAGGAAAACTTTCTAGGGATGGAAATGTCCACATGACTTTAATCTTTGACAATCCTGGATATCGAGGCTTTATTCTTTCTGATCTTTGCCCCCTTCTCCAACTTTCTCAACCTTCCCCCACCTCTCCTCCAGCAGTTTGGTTTTTTTTTTTTTTTTTTTTTTTTTCCTTTCTCTCATGTGCAAAGCTGACTTCCTAGGAAAAAGCTGCCGGATATCTGAGCACTGGAGATAACTCATAAACAACAACTCAGCTTCCCCAACCTAAACACCAAGATGTTTGAACGTATCAGAACAAGAAGTGTTTGAAAAAAAAAAAAAAAAAAGGCTAGAGGTGTTAGTGCAGAATGAATATGATCACACCACAAAAGAATGTTTTGAATCACTCAAAAACCTGGCCTTAGTAAAAAAAAAAAAAAAAAAAGAGAGAGAGAGAGAGAGGAAAAAAAAACAACAAACAAAAACCTTCTTGTTAAAATGTGTCTTGGTACCAT
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Task1_train_13645
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A variant has been detected on Chromosome 10 in GATA3 (GATA binding protein 3). What is its effect — pathogenic or benign? If pathogenic, name the disease.
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Pathogenic; not provided
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GGCCAGTGCTGCCCCAGAAGGGGCTGACCCAGCAGCCACCAGCGACACAAAAAGGCAGGCCTGCGGCCTGGCTTGGGCTGCAGCCGGTTACTCGCCCACTCACCCTTCACTCTTTCCTTCCAGCCTCCCCCACATCCAGTCTGCCACATCCCTCAGGCTTTTGACCCCAACTGAAAGGTGTCTGGGTGTGATTCAGGCCTGAGCCTTTTTCAAGAACTGAGAAGAGCCGTTGGGTACTTAGGAAGGCGCCTTTGGCATGCACTGCAGCGTGTTTGTGTTTAATCTCAGGGGTTCTGGGGCACAGCAAAGGCTCTCTGGGGACCCTAGGCTAAGAATCTTTTGGAATGTGGAGCAAAAAAAAAAACCTCTCTTACATCCTCATTTTTTTTTTTTTTTTAAAAAACAAAGTAGACAAAAACTAGTGGGCACCATCCCTGACTTTCAAGGGTGCAAGACCCTCTTCCATTTGCAAAAGTCTTTAACTTTCCTGAAGAACTTACCCCTGGAGAGTATCACAGGCCCCCAAGTGTGAACCCCCCTAGTTCCCTCCTACTTGATCTGGGGCTTTCCAAAGGCCCAATAGGTCCCATATCTGCCAAGGCAGATTTTTCCTCCTTTTAGGGGAATCAAAATTCTCAAGCACCCTACTGGGTTCTCTTCTTCTACCCCAGTGGTCCGGGCAGGTTGGAGGTCATTAATTACTCTCTTAAAACAAAACAGTCTTCAGAGCTCATTTTTCTTCCCTACCTACCCTCCGGGGTCCTCCTCTGGGCCTCCCCTCTCTGGGGGACCAACTTGAGTTAAGCCTCCTGTTCCTGCAAGGAAGGGGAGTCCTGGCTTTCTCTGGGCACCCAGAGAACTGGGCGCTAGAGACCCGTGTGTCCCTGGGTCCCCCAAAACCAAGGAGATTCTCCTAGAAAGCATCTTTCTCTTCCTCTTGCAAAGTTGAAATCAGTTAGCCAACTCCCCCATGTCTTGAAATGGTAATTTAAGGGATTCTTCCAAGGAGCTTTCTGGGTGGGTCTGGGTCGCTTTCCAGCCTGGGCTGAGGGAGTGAATGCTGCTCAGACTTCCTACCGGCCTGGCTGGTTTTTCGTTTATTTTGTTTGTTTGTGTTTTTGGGAAAAGAGAAACTGTAGGCAGGCCTTGGTTACTGAGCAGCCACCCCGCTTTGTTAACTTGCCTCTTCTCCTGATCTTCCTCTGATCGGCTTCACTCTGTCCTCCCAAACCTTCCCTTTTCCTTTTTCCCTCCCTCCCCCTCTTCCAGGTTCCCTGCCTAAAGTTTGCATTTCCCCCTTGCACCCCCTGGCTGGGGTCATACTTTAACTTCAGTCTCCGTAACAGCGGCTGGAAAGCTATGGAAACCCCTGCTGGGTCCTAATCGCTTCCTTTCCAGCCAGGGACATTTGCAGTTTGATTGGAAGTAAAATCTAAAACCCTAGCTAGTGAAATCAATCAGCCGATTGATCAATCTATGCATCTATTTATTATCTGTTCACCTATCTAGCCATTGATGAATCCTTCCTTTCCCCCATCCTAATCTTCATTATTTAATCAATCTCTATAGACAGACCCATGATGATAATGGGTCACCTTTGTCTTCCTTTTTTTCCTTTGAGGGAAATGAATGGAATGTTTGCCTTTTGCCACCATCCAGGGCTCAGGATTTTCTCAGGGAAGTATTTGTAGCTGGAATCTGCATTCCTCCTTGGTCCTGCCCGATCTTCTCCATCAAGTCGGGCAAGCCAAGAACAGGGTTCTGTTGCAACGATGCATCTGCCCCTTCTGCGGGCGCCTCCGTGTGTGTCGGGGGAACGGTCATGCCAGGACAGCATTCCCCAGCTCAACTTTGGAGCATCTTGGAAAGAGGTGGGGGTGGACACGCTCCCCAAAAGAGGAGGGAGAAGGAAAAAAGTTCTCCATTTTACGTTTCTCCCCCAGTTCCAAATGCTGTCAGCTTTCCTGCGTGTTTTCCTTCCCTAAGTGGCTTATCTGTGCTTTTGTTTCCAGAAGGCAGGGAGTGTGTGAACTGTGGGGCAACCTCGACCCCACTGTGGCGGCGAGATGGCACGGGACACTACCTGTGCAACGCCTGCGGGCTCTATCACAAAATGAACGGACAGAACCGGCCCCTCATTAAGCCCAAGCGAAGGCTGGTAAGTTCTCGGGAAGGGATGGATTCCATGCTGACCATTCTGGGTTTCTCATTTCCTCTCTTCCGGAAGGACAGCTTTCTGCAGGAAATTGACAGGATAGCCTCCAATCGTGTCAGCTGGCTTGGGACAGTTTTTTTTTTTTTCCTTTTTCTTTCTTTCTTTTCTTCTTCTTCTTTTTTTTTTTTTTTTTCAAATTTGATACACAGAACAGCTCTTTTCCCCTCTTTTTCCCCATCCATGTTTCTTAAGTCGCTTGTGAACATTTTAAGGAGACTGAATTCTTGGTTATCAAATCTGCAGTGTATTCCTGAATAGAATAATGGTATGAACAGGACCAGAGCAGCTGGTTTAAGTGCACTGATGAGCACCGTTTGACAGATAGAGACATTTAGTATGAGGACGGAATGTTCCAGAAACCATCCAGAATGGGTTCCTGAAGTTGTGGCGTGTGGCTTCCCAGGAAGGATTACAGACTCAGTGCAATGGATGGATTTGTTATGCTAATGCTTCAAAATGGTTGGAGCTGATTAAATGAATTTCAGAGGCTTCACCAGCAACCAGTGAGCCTAATGCCACTTTCCTCCTTTCTTGGTCTCAGCATTTGAGAACTTTCCACAGGCAATTCCTATGGGAAACGTCGTGTGAGTCCTCTCATACCTGGCATTTGGTCTTCTTTTCTCTTTGAACTACTACCAGTAAGGTGATAGTTTTTTCTCTCCTCTCTCATTATTCTTTTAAAAACTTTTTAAGCATGAGGGATCCTTGAGAAAACCTGGCTCTGTCAAGCATTTATAAGGAAGACAACTTATAGGGGACATTCATTTGCAAGCTCCTCTTTGGAAGTTTGAATAGTGAATGTATGTGACAGACAAATAACAACTCTAGCCACAGCTAAGAGATCAAAATGCTTTATGTGGTGCTGACATTCACCAAGTCGAGATGGGAGGAGGGGAATTTCCCCACGCAGATTAATGGATAAATTAGCATCCATCAATTTCTAAGGAAGGAAAAAGAACACCTCTGTATTCTTTTTAAAGAATACTTTGCCCTCCCCATCAGATTGTAGTGCAACTCAACACCTTTCACATCCTATTTTGAAGAAGGAAAAACTTTCTTTTTTTTTTTTTTTTTTTTTTTGAGACAGAGTCTCACTCTGTCACCCAGGCTGGAGTGCAGTGGCACGATCTCGGCTCACTGCAACCTCCACCTCCCGGGTTCAAGCAATTCTCCTGTCTCAGCCTCCTGAATAGCTGGGAGTAGGGACACCCGCCCCCACACCCGGCAAATTTTTGTATTTTCAGTAGAGACAGGGTTTCGCCTTTTTGGCCAGGCTGGTCTCAAACTCCTGACCTCAGGTGATCCACCGCCTCGGCCTCCCAGAGTGCTGGGATTACAGGCATGAGCCACCGCTCCCAGCCAAAGAAGGAAAACTTTCTAGGGATGGAAATGTCCACATGACTTTAATCTTTGACAATCCTGGATATCGAGGCTTTATTCTTTCTGATCTTTGCCCCCTTCTCCAACTTTCTCAACCTTCCCCCACCTCTCCTCCAGCAGTTTGGTTTTTTTTTTTTTTTTTTTTTTTTTCCTTTCTCTCATGTGCAAAGCTGACTTCCTAGGAAAAAGCTGCCGGATATCTGAGCACTGGAGATAACTCATAAACAACAACTCAGCTTCCCCAACCTAAACACCAAGATGTTTGAACGTATCAGAACAAGAAGTGTTTGAAAAAAAAAAAAAAAAAAGGCTAGAGGTGTTAGTGCAGAATGAATATGATCACACCACAAAAGAATGTTTTGAATCACTCAAAAACCTGGCCTTAGTAAAAAAAAAAAAAAAAAAAGAGAGAGAGAGAGAGAGGAAAAAAAAACAACAAACAAAAACCTTCTTGTTAAAATGTGTCTTGGTACCATTATAGTTGTTTTTTTTGTTTTTTCT
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GGCCAGTGCTGCCCCAGAAGGGGCTGACCCAGCAGCCACCAGCGACACAAAAAGGCAGGCCTGCGGCCTGGCTTGGGCTGCAGCCGGTTACTCGCCCACTCACCCTTCACTCTTTCCTTCCAGCCTCCCCCACATCCAGTCTGCCACATCCCTCAGGCTTTTGACCCCAACTGAAAGGTGTCTGGGTGTGATTCAGGCCTGAGCCTTTTTCAAGAACTGAGAAGAGCCGTTGGGTACTTAGGAAGGCGCCTTTGGCATGCACTGCAGCGTGTTTGTGTTTAATCTCAGGGGTTCTGGGGCACAGCAAAGGCTCTCTGGGGACCCTAGGCTAAGAATCTTTTGGAATGTGGAGCAAAAAAAAAAACCTCTCTTACATCCTCATTTTTTTTTTTTTTTTAAAAAACAAAGTAGACAAAAACTAGTGGGCACCATCCCTGACTTTCAAGGGTGCAAGACCCTCTTCCATTTGCAAAAGTCTTTAACTTTCCTGAAGAACTTACCCCTGGAGAGTATCACAGGCCCCCAAGTGTGAACCCCCCTAGTTCCCTCCTACTTGATCTGGGGCTTTCCAAAGGCCCAATAGGTCCCATATCTGCCAAGGCAGATTTTTCCTCCTTTTAGGGGAATCAAAATTCTCAAGCACCCTACTGGGTTCTCTTCTTCTACCCCAGTGGTCCGGGCAGGTTGGAGGTCATTAATTACTCTCTTAAAACAAAACAGTCTTCAGAGCTCATTTTTCTTCCCTACCTACCCTCCGGGGTCCTCCTCTGGGCCTCCCCTCTCTGGGGGACCAACTTGAGTTAAGCCTCCTGTTCCTGCAAGGAAGGGGAGTCCTGGCTTTCTCTGGGCACCCAGAGAACTGGGCGCTAGAGACCCGTGTGTCCCTGGGTCCCCCAAAACCAAGGAGATTCTCCTAGAAAGCATCTTTCTCTTCCTCTTGCAAAGTTGAAATCAGTTAGCCAACTCCCCCATGTCTTGAAATGGTAATTTAAGGGATTCTTCCAAGGAGCTTTCTGGGTGGGTCTGGGTCGCTTTCCAGCCTGGGCTGAGGGAGTGAATGCTGCTCAGACTTCCTACCGGCCTGGCTGGTTTTTCGTTTATTTTGTTTGTTTGTGTTTTTGGGAAAAGAGAAACTGTAGGCAGGCCTTGGTTACTGAGCAGCCACCCCGCTTTGTTAACTTGCCTCTTCTCCTGATCTTCCTCTGATCGGCTTCACTCTGTCCTCCCAAACCTTCCCTTTTCCTTTTTCCCTCCCTCCCCCTCTTCCAGGTTCCCTGCCTAAAGTTTGCATTTCCCCCTTGCACCCCCTGGCTGGGGTCATACTTTAACTTCAGTCTCCGTAACAGCGGCTGGAAAGCTATGGAAACCCCTGCTGGGTCCTAATCGCTTCCTTTCCAGCCAGGGACATTTGCAGTTTGATTGGAAGTAAAATCTAAAACCCTAGCTAGTGAAATCAATCAGCCGATTGATCAATCTATGCATCTATTTATTATCTGTTCACCTATCTAGCCATTGATGAATCCTTCCTTTCCCCCATCCTAATCTTCATTATTTAATCAATCTCTATAGACAGACCCATGATGATAATGGGTCACCTTTGTCTTCCTTTTTTTCCTTTGAGGGAAATGAATGGAATGTTTGCCTTTTGCCACCATCCAGGGCTCAGGATTTTCTCAGGGAAGTATTTGTAGCTGGAATCTGCATTCCTCCTTGGTCCTGCCCGATCTTCTCCATCAAGTCGGGCAAGCCAAGAACAGGGTTCTGTTGCAACGATGCATCTGCCCCTTCTGCGGGCGCCTCCGTGTGTGTCGGGGGAACGGTCATGCCAGGACAGCATTCCCCAGCTCAACTTTGGAGCATCTTGGAAAGAGGTGGGGGTGGACACGCTCCCCAAAAGAGGAGGGAGAAGGAAAAAAGTTCTCCATTTTACGTTTCTCCCCCAGTTCCAAATGCTGTCAGCTTTCCTGCGTGTTTTCCTTCCCTAAGTGGCTTATCTGTGCTTTTGTTTCCAGAAGGCAGGGAGTGTGTGAACTGTGGGGCAACCTCGATCCCACTGTGGCGGCGAGATGGCACGGGACACTACCTGTGCAACGCCTGCGGGCTCTATCACAAAATGAACGGACAGAACCGGCCCCTCATTAAGCCCAAGCGAAGGCTGGTAAGTTCTCGGGAAGGGATGGATTCCATGCTGACCATTCTGGGTTTCTCATTTCCTCTCTTCCGGAAGGACAGCTTTCTGCAGGAAATTGACAGGATAGCCTCCAATCGTGTCAGCTGGCTTGGGACAGTTTTTTTTTTTTTCCTTTTTCTTTCTTTCTTTTCTTCTTCTTCTTTTTTTTTTTTTTTTTCAAATTTGATACACAGAACAGCTCTTTTCCCCTCTTTTTCCCCATCCATGTTTCTTAAGTCGCTTGTGAACATTTTAAGGAGACTGAATTCTTGGTTATCAAATCTGCAGTGTATTCCTGAATAGAATAATGGTATGAACAGGACCAGAGCAGCTGGTTTAAGTGCACTGATGAGCACCGTTTGACAGATAGAGACATTTAGTATGAGGACGGAATGTTCCAGAAACCATCCAGAATGGGTTCCTGAAGTTGTGGCGTGTGGCTTCCCAGGAAGGATTACAGACTCAGTGCAATGGATGGATTTGTTATGCTAATGCTTCAAAATGGTTGGAGCTGATTAAATGAATTTCAGAGGCTTCACCAGCAACCAGTGAGCCTAATGCCACTTTCCTCCTTTCTTGGTCTCAGCATTTGAGAACTTTCCACAGGCAATTCCTATGGGAAACGTCGTGTGAGTCCTCTCATACCTGGCATTTGGTCTTCTTTTCTCTTTGAACTACTACCAGTAAGGTGATAGTTTTTTCTCTCCTCTCTCATTATTCTTTTAAAAACTTTTTAAGCATGAGGGATCCTTGAGAAAACCTGGCTCTGTCAAGCATTTATAAGGAAGACAACTTATAGGGGACATTCATTTGCAAGCTCCTCTTTGGAAGTTTGAATAGTGAATGTATGTGACAGACAAATAACAACTCTAGCCACAGCTAAGAGATCAAAATGCTTTATGTGGTGCTGACATTCACCAAGTCGAGATGGGAGGAGGGGAATTTCCCCACGCAGATTAATGGATAAATTAGCATCCATCAATTTCTAAGGAAGGAAAAAGAACACCTCTGTATTCTTTTTAAAGAATACTTTGCCCTCCCCATCAGATTGTAGTGCAACTCAACACCTTTCACATCCTATTTTGAAGAAGGAAAAACTTTCTTTTTTTTTTTTTTTTTTTTTTTGAGACAGAGTCTCACTCTGTCACCCAGGCTGGAGTGCAGTGGCACGATCTCGGCTCACTGCAACCTCCACCTCCCGGGTTCAAGCAATTCTCCTGTCTCAGCCTCCTGAATAGCTGGGAGTAGGGACACCCGCCCCCACACCCGGCAAATTTTTGTATTTTCAGTAGAGACAGGGTTTCGCCTTTTTGGCCAGGCTGGTCTCAAACTCCTGACCTCAGGTGATCCACCGCCTCGGCCTCCCAGAGTGCTGGGATTACAGGCATGAGCCACCGCTCCCAGCCAAAGAAGGAAAACTTTCTAGGGATGGAAATGTCCACATGACTTTAATCTTTGACAATCCTGGATATCGAGGCTTTATTCTTTCTGATCTTTGCCCCCTTCTCCAACTTTCTCAACCTTCCCCCACCTCTCCTCCAGCAGTTTGGTTTTTTTTTTTTTTTTTTTTTTTTTCCTTTCTCTCATGTGCAAAGCTGACTTCCTAGGAAAAAGCTGCCGGATATCTGAGCACTGGAGATAACTCATAAACAACAACTCAGCTTCCCCAACCTAAACACCAAGATGTTTGAACGTATCAGAACAAGAAGTGTTTGAAAAAAAAAAAAAAAAAAGGCTAGAGGTGTTAGTGCAGAATGAATATGATCACACCACAAAAGAATGTTTTGAATCACTCAAAAACCTGGCCTTAGTAAAAAAAAAAAAAAAAAAAGAGAGAGAGAGAGAGAGGAAAAAAAAACAACAAACAAAAACCTTCTTGTTAAAATGTGTCTTGGTACCATTATAGTTGTTTTTTTTGTTTTTTCT
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Task1_train_13646
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This variant affects gene GATA3 (GATA binding protein 3) located on Chromosome 10. Evaluate its biological effect and specify any disease association.
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Pathogenic; Hypoparathyroidism, deafness, renal disease syndrome
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CTGCCCCAGAAGGGGCTGACCCAGCAGCCACCAGCGACACAAAAAGGCAGGCCTGCGGCCTGGCTTGGGCTGCAGCCGGTTACTCGCCCACTCACCCTTCACTCTTTCCTTCCAGCCTCCCCCACATCCAGTCTGCCACATCCCTCAGGCTTTTGACCCCAACTGAAAGGTGTCTGGGTGTGATTCAGGCCTGAGCCTTTTTCAAGAACTGAGAAGAGCCGTTGGGTACTTAGGAAGGCGCCTTTGGCATGCACTGCAGCGTGTTTGTGTTTAATCTCAGGGGTTCTGGGGCACAGCAAAGGCTCTCTGGGGACCCTAGGCTAAGAATCTTTTGGAATGTGGAGCAAAAAAAAAAACCTCTCTTACATCCTCATTTTTTTTTTTTTTTTAAAAAACAAAGTAGACAAAAACTAGTGGGCACCATCCCTGACTTTCAAGGGTGCAAGACCCTCTTCCATTTGCAAAAGTCTTTAACTTTCCTGAAGAACTTACCCCTGGAGAGTATCACAGGCCCCCAAGTGTGAACCCCCCTAGTTCCCTCCTACTTGATCTGGGGCTTTCCAAAGGCCCAATAGGTCCCATATCTGCCAAGGCAGATTTTTCCTCCTTTTAGGGGAATCAAAATTCTCAAGCACCCTACTGGGTTCTCTTCTTCTACCCCAGTGGTCCGGGCAGGTTGGAGGTCATTAATTACTCTCTTAAAACAAAACAGTCTTCAGAGCTCATTTTTCTTCCCTACCTACCCTCCGGGGTCCTCCTCTGGGCCTCCCCTCTCTGGGGGACCAACTTGAGTTAAGCCTCCTGTTCCTGCAAGGAAGGGGAGTCCTGGCTTTCTCTGGGCACCCAGAGAACTGGGCGCTAGAGACCCGTGTGTCCCTGGGTCCCCCAAAACCAAGGAGATTCTCCTAGAAAGCATCTTTCTCTTCCTCTTGCAAAGTTGAAATCAGTTAGCCAACTCCCCCATGTCTTGAAATGGTAATTTAAGGGATTCTTCCAAGGAGCTTTCTGGGTGGGTCTGGGTCGCTTTCCAGCCTGGGCTGAGGGAGTGAATGCTGCTCAGACTTCCTACCGGCCTGGCTGGTTTTTCGTTTATTTTGTTTGTTTGTGTTTTTGGGAAAAGAGAAACTGTAGGCAGGCCTTGGTTACTGAGCAGCCACCCCGCTTTGTTAACTTGCCTCTTCTCCTGATCTTCCTCTGATCGGCTTCACTCTGTCCTCCCAAACCTTCCCTTTTCCTTTTTCCCTCCCTCCCCCTCTTCCAGGTTCCCTGCCTAAAGTTTGCATTTCCCCCTTGCACCCCCTGGCTGGGGTCATACTTTAACTTCAGTCTCCGTAACAGCGGCTGGAAAGCTATGGAAACCCCTGCTGGGTCCTAATCGCTTCCTTTCCAGCCAGGGACATTTGCAGTTTGATTGGAAGTAAAATCTAAAACCCTAGCTAGTGAAATCAATCAGCCGATTGATCAATCTATGCATCTATTTATTATCTGTTCACCTATCTAGCCATTGATGAATCCTTCCTTTCCCCCATCCTAATCTTCATTATTTAATCAATCTCTATAGACAGACCCATGATGATAATGGGTCACCTTTGTCTTCCTTTTTTTCCTTTGAGGGAAATGAATGGAATGTTTGCCTTTTGCCACCATCCAGGGCTCAGGATTTTCTCAGGGAAGTATTTGTAGCTGGAATCTGCATTCCTCCTTGGTCCTGCCCGATCTTCTCCATCAAGTCGGGCAAGCCAAGAACAGGGTTCTGTTGCAACGATGCATCTGCCCCTTCTGCGGGCGCCTCCGTGTGTGTCGGGGGAACGGTCATGCCAGGACAGCATTCCCCAGCTCAACTTTGGAGCATCTTGGAAAGAGGTGGGGGTGGACACGCTCCCCAAAAGAGGAGGGAGAAGGAAAAAAGTTCTCCATTTTACGTTTCTCCCCCAGTTCCAAATGCTGTCAGCTTTCCTGCGTGTTTTCCTTCCCTAAGTGGCTTATCTGTGCTTTTGTTTCCAGAAGGCAGGGAGTGTGTGAACTGTGGGGCAACCTCGACCCCACTGTGGCGGCGAGATGGCACGGGACACTACCTGTGCAACGCCTGCGGGCTCTATCACAAAATGAACGGACAGAACCGGCCCCTCATTAAGCCCAAGCGAAGGCTGGTAAGTTCTCGGGAAGGGATGGATTCCATGCTGACCATTCTGGGTTTCTCATTTCCTCTCTTCCGGAAGGACAGCTTTCTGCAGGAAATTGACAGGATAGCCTCCAATCGTGTCAGCTGGCTTGGGACAGTTTTTTTTTTTTTCCTTTTTCTTTCTTTCTTTTCTTCTTCTTCTTTTTTTTTTTTTTTTTCAAATTTGATACACAGAACAGCTCTTTTCCCCTCTTTTTCCCCATCCATGTTTCTTAAGTCGCTTGTGAACATTTTAAGGAGACTGAATTCTTGGTTATCAAATCTGCAGTGTATTCCTGAATAGAATAATGGTATGAACAGGACCAGAGCAGCTGGTTTAAGTGCACTGATGAGCACCGTTTGACAGATAGAGACATTTAGTATGAGGACGGAATGTTCCAGAAACCATCCAGAATGGGTTCCTGAAGTTGTGGCGTGTGGCTTCCCAGGAAGGATTACAGACTCAGTGCAATGGATGGATTTGTTATGCTAATGCTTCAAAATGGTTGGAGCTGATTAAATGAATTTCAGAGGCTTCACCAGCAACCAGTGAGCCTAATGCCACTTTCCTCCTTTCTTGGTCTCAGCATTTGAGAACTTTCCACAGGCAATTCCTATGGGAAACGTCGTGTGAGTCCTCTCATACCTGGCATTTGGTCTTCTTTTCTCTTTGAACTACTACCAGTAAGGTGATAGTTTTTTCTCTCCTCTCTCATTATTCTTTTAAAAACTTTTTAAGCATGAGGGATCCTTGAGAAAACCTGGCTCTGTCAAGCATTTATAAGGAAGACAACTTATAGGGGACATTCATTTGCAAGCTCCTCTTTGGAAGTTTGAATAGTGAATGTATGTGACAGACAAATAACAACTCTAGCCACAGCTAAGAGATCAAAATGCTTTATGTGGTGCTGACATTCACCAAGTCGAGATGGGAGGAGGGGAATTTCCCCACGCAGATTAATGGATAAATTAGCATCCATCAATTTCTAAGGAAGGAAAAAGAACACCTCTGTATTCTTTTTAAAGAATACTTTGCCCTCCCCATCAGATTGTAGTGCAACTCAACACCTTTCACATCCTATTTTGAAGAAGGAAAAACTTTCTTTTTTTTTTTTTTTTTTTTTTTGAGACAGAGTCTCACTCTGTCACCCAGGCTGGAGTGCAGTGGCACGATCTCGGCTCACTGCAACCTCCACCTCCCGGGTTCAAGCAATTCTCCTGTCTCAGCCTCCTGAATAGCTGGGAGTAGGGACACCCGCCCCCACACCCGGCAAATTTTTGTATTTTCAGTAGAGACAGGGTTTCGCCTTTTTGGCCAGGCTGGTCTCAAACTCCTGACCTCAGGTGATCCACCGCCTCGGCCTCCCAGAGTGCTGGGATTACAGGCATGAGCCACCGCTCCCAGCCAAAGAAGGAAAACTTTCTAGGGATGGAAATGTCCACATGACTTTAATCTTTGACAATCCTGGATATCGAGGCTTTATTCTTTCTGATCTTTGCCCCCTTCTCCAACTTTCTCAACCTTCCCCCACCTCTCCTCCAGCAGTTTGGTTTTTTTTTTTTTTTTTTTTTTTTTCCTTTCTCTCATGTGCAAAGCTGACTTCCTAGGAAAAAGCTGCCGGATATCTGAGCACTGGAGATAACTCATAAACAACAACTCAGCTTCCCCAACCTAAACACCAAGATGTTTGAACGTATCAGAACAAGAAGTGTTTGAAAAAAAAAAAAAAAAAAGGCTAGAGGTGTTAGTGCAGAATGAATATGATCACACCACAAAAGAATGTTTTGAATCACTCAAAAACCTGGCCTTAGTAAAAAAAAAAAAAAAAAAAGAGAGAGAGAGAGAGAGGAAAAAAAAACAACAAACAAAAACCTTCTTGTTAAAATGTGTCTTGGTACCATTATAGTTGTTTTTTTTGTTTTTTCTGTTTTTTT
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CTGCCCCAGAAGGGGCTGACCCAGCAGCCACCAGCGACACAAAAAGGCAGGCCTGCGGCCTGGCTTGGGCTGCAGCCGGTTACTCGCCCACTCACCCTTCACTCTTTCCTTCCAGCCTCCCCCACATCCAGTCTGCCACATCCCTCAGGCTTTTGACCCCAACTGAAAGGTGTCTGGGTGTGATTCAGGCCTGAGCCTTTTTCAAGAACTGAGAAGAGCCGTTGGGTACTTAGGAAGGCGCCTTTGGCATGCACTGCAGCGTGTTTGTGTTTAATCTCAGGGGTTCTGGGGCACAGCAAAGGCTCTCTGGGGACCCTAGGCTAAGAATCTTTTGGAATGTGGAGCAAAAAAAAAAACCTCTCTTACATCCTCATTTTTTTTTTTTTTTTAAAAAACAAAGTAGACAAAAACTAGTGGGCACCATCCCTGACTTTCAAGGGTGCAAGACCCTCTTCCATTTGCAAAAGTCTTTAACTTTCCTGAAGAACTTACCCCTGGAGAGTATCACAGGCCCCCAAGTGTGAACCCCCCTAGTTCCCTCCTACTTGATCTGGGGCTTTCCAAAGGCCCAATAGGTCCCATATCTGCCAAGGCAGATTTTTCCTCCTTTTAGGGGAATCAAAATTCTCAAGCACCCTACTGGGTTCTCTTCTTCTACCCCAGTGGTCCGGGCAGGTTGGAGGTCATTAATTACTCTCTTAAAACAAAACAGTCTTCAGAGCTCATTTTTCTTCCCTACCTACCCTCCGGGGTCCTCCTCTGGGCCTCCCCTCTCTGGGGGACCAACTTGAGTTAAGCCTCCTGTTCCTGCAAGGAAGGGGAGTCCTGGCTTTCTCTGGGCACCCAGAGAACTGGGCGCTAGAGACCCGTGTGTCCCTGGGTCCCCCAAAACCAAGGAGATTCTCCTAGAAAGCATCTTTCTCTTCCTCTTGCAAAGTTGAAATCAGTTAGCCAACTCCCCCATGTCTTGAAATGGTAATTTAAGGGATTCTTCCAAGGAGCTTTCTGGGTGGGTCTGGGTCGCTTTCCAGCCTGGGCTGAGGGAGTGAATGCTGCTCAGACTTCCTACCGGCCTGGCTGGTTTTTCGTTTATTTTGTTTGTTTGTGTTTTTGGGAAAAGAGAAACTGTAGGCAGGCCTTGGTTACTGAGCAGCCACCCCGCTTTGTTAACTTGCCTCTTCTCCTGATCTTCCTCTGATCGGCTTCACTCTGTCCTCCCAAACCTTCCCTTTTCCTTTTTCCCTCCCTCCCCCTCTTCCAGGTTCCCTGCCTAAAGTTTGCATTTCCCCCTTGCACCCCCTGGCTGGGGTCATACTTTAACTTCAGTCTCCGTAACAGCGGCTGGAAAGCTATGGAAACCCCTGCTGGGTCCTAATCGCTTCCTTTCCAGCCAGGGACATTTGCAGTTTGATTGGAAGTAAAATCTAAAACCCTAGCTAGTGAAATCAATCAGCCGATTGATCAATCTATGCATCTATTTATTATCTGTTCACCTATCTAGCCATTGATGAATCCTTCCTTTCCCCCATCCTAATCTTCATTATTTAATCAATCTCTATAGACAGACCCATGATGATAATGGGTCACCTTTGTCTTCCTTTTTTTCCTTTGAGGGAAATGAATGGAATGTTTGCCTTTTGCCACCATCCAGGGCTCAGGATTTTCTCAGGGAAGTATTTGTAGCTGGAATCTGCATTCCTCCTTGGTCCTGCCCGATCTTCTCCATCAAGTCGGGCAAGCCAAGAACAGGGTTCTGTTGCAACGATGCATCTGCCCCTTCTGCGGGCGCCTCCGTGTGTGTCGGGGGAACGGTCATGCCAGGACAGCATTCCCCAGCTCAACTTTGGAGCATCTTGGAAAGAGGTGGGGGTGGACACGCTCCCCAAAAGAGGAGGGAGAAGGAAAAAAGTTCTCCATTTTACGTTTCTCCCCCAGTTCCAAATGCTGTCAGCTTTCCTGCGTGTTTTCCTTCCCTAAGTGGCTTATCTGTGCTTTTGTTTCCAGAAGGCAGGGAGTGTGTGAACTGTGGGGCAACCTCGACCCCACTGAGGCGGCGAGATGGCACGGGACACTACCTGTGCAACGCCTGCGGGCTCTATCACAAAATGAACGGACAGAACCGGCCCCTCATTAAGCCCAAGCGAAGGCTGGTAAGTTCTCGGGAAGGGATGGATTCCATGCTGACCATTCTGGGTTTCTCATTTCCTCTCTTCCGGAAGGACAGCTTTCTGCAGGAAATTGACAGGATAGCCTCCAATCGTGTCAGCTGGCTTGGGACAGTTTTTTTTTTTTTCCTTTTTCTTTCTTTCTTTTCTTCTTCTTCTTTTTTTTTTTTTTTTTCAAATTTGATACACAGAACAGCTCTTTTCCCCTCTTTTTCCCCATCCATGTTTCTTAAGTCGCTTGTGAACATTTTAAGGAGACTGAATTCTTGGTTATCAAATCTGCAGTGTATTCCTGAATAGAATAATGGTATGAACAGGACCAGAGCAGCTGGTTTAAGTGCACTGATGAGCACCGTTTGACAGATAGAGACATTTAGTATGAGGACGGAATGTTCCAGAAACCATCCAGAATGGGTTCCTGAAGTTGTGGCGTGTGGCTTCCCAGGAAGGATTACAGACTCAGTGCAATGGATGGATTTGTTATGCTAATGCTTCAAAATGGTTGGAGCTGATTAAATGAATTTCAGAGGCTTCACCAGCAACCAGTGAGCCTAATGCCACTTTCCTCCTTTCTTGGTCTCAGCATTTGAGAACTTTCCACAGGCAATTCCTATGGGAAACGTCGTGTGAGTCCTCTCATACCTGGCATTTGGTCTTCTTTTCTCTTTGAACTACTACCAGTAAGGTGATAGTTTTTTCTCTCCTCTCTCATTATTCTTTTAAAAACTTTTTAAGCATGAGGGATCCTTGAGAAAACCTGGCTCTGTCAAGCATTTATAAGGAAGACAACTTATAGGGGACATTCATTTGCAAGCTCCTCTTTGGAAGTTTGAATAGTGAATGTATGTGACAGACAAATAACAACTCTAGCCACAGCTAAGAGATCAAAATGCTTTATGTGGTGCTGACATTCACCAAGTCGAGATGGGAGGAGGGGAATTTCCCCACGCAGATTAATGGATAAATTAGCATCCATCAATTTCTAAGGAAGGAAAAAGAACACCTCTGTATTCTTTTTAAAGAATACTTTGCCCTCCCCATCAGATTGTAGTGCAACTCAACACCTTTCACATCCTATTTTGAAGAAGGAAAAACTTTCTTTTTTTTTTTTTTTTTTTTTTTGAGACAGAGTCTCACTCTGTCACCCAGGCTGGAGTGCAGTGGCACGATCTCGGCTCACTGCAACCTCCACCTCCCGGGTTCAAGCAATTCTCCTGTCTCAGCCTCCTGAATAGCTGGGAGTAGGGACACCCGCCCCCACACCCGGCAAATTTTTGTATTTTCAGTAGAGACAGGGTTTCGCCTTTTTGGCCAGGCTGGTCTCAAACTCCTGACCTCAGGTGATCCACCGCCTCGGCCTCCCAGAGTGCTGGGATTACAGGCATGAGCCACCGCTCCCAGCCAAAGAAGGAAAACTTTCTAGGGATGGAAATGTCCACATGACTTTAATCTTTGACAATCCTGGATATCGAGGCTTTATTCTTTCTGATCTTTGCCCCCTTCTCCAACTTTCTCAACCTTCCCCCACCTCTCCTCCAGCAGTTTGGTTTTTTTTTTTTTTTTTTTTTTTTTCCTTTCTCTCATGTGCAAAGCTGACTTCCTAGGAAAAAGCTGCCGGATATCTGAGCACTGGAGATAACTCATAAACAACAACTCAGCTTCCCCAACCTAAACACCAAGATGTTTGAACGTATCAGAACAAGAAGTGTTTGAAAAAAAAAAAAAAAAAAGGCTAGAGGTGTTAGTGCAGAATGAATATGATCACACCACAAAAGAATGTTTTGAATCACTCAAAAACCTGGCCTTAGTAAAAAAAAAAAAAAAAAAAGAGAGAGAGAGAGAGAGGAAAAAAAAACAACAAACAAAAACCTTCTTGTTAAAATGTGTCTTGGTACCATTATAGTTGTTTTTTTTGTTTTTTCTGTTTTTTT
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Task1_train_13647
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This is a variant in GATA3 (GATA binding protein 3), located on Chromosome 10. Is this mutation a likely cause of disease or not?
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Pathogenic; Dominant congenital non-syndromic sensorineural hearing loss
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AAGGGGCTGACCCAGCAGCCACCAGCGACACAAAAAGGCAGGCCTGCGGCCTGGCTTGGGCTGCAGCCGGTTACTCGCCCACTCACCCTTCACTCTTTCCTTCCAGCCTCCCCCACATCCAGTCTGCCACATCCCTCAGGCTTTTGACCCCAACTGAAAGGTGTCTGGGTGTGATTCAGGCCTGAGCCTTTTTCAAGAACTGAGAAGAGCCGTTGGGTACTTAGGAAGGCGCCTTTGGCATGCACTGCAGCGTGTTTGTGTTTAATCTCAGGGGTTCTGGGGCACAGCAAAGGCTCTCTGGGGACCCTAGGCTAAGAATCTTTTGGAATGTGGAGCAAAAAAAAAAACCTCTCTTACATCCTCATTTTTTTTTTTTTTTTAAAAAACAAAGTAGACAAAAACTAGTGGGCACCATCCCTGACTTTCAAGGGTGCAAGACCCTCTTCCATTTGCAAAAGTCTTTAACTTTCCTGAAGAACTTACCCCTGGAGAGTATCACAGGCCCCCAAGTGTGAACCCCCCTAGTTCCCTCCTACTTGATCTGGGGCTTTCCAAAGGCCCAATAGGTCCCATATCTGCCAAGGCAGATTTTTCCTCCTTTTAGGGGAATCAAAATTCTCAAGCACCCTACTGGGTTCTCTTCTTCTACCCCAGTGGTCCGGGCAGGTTGGAGGTCATTAATTACTCTCTTAAAACAAAACAGTCTTCAGAGCTCATTTTTCTTCCCTACCTACCCTCCGGGGTCCTCCTCTGGGCCTCCCCTCTCTGGGGGACCAACTTGAGTTAAGCCTCCTGTTCCTGCAAGGAAGGGGAGTCCTGGCTTTCTCTGGGCACCCAGAGAACTGGGCGCTAGAGACCCGTGTGTCCCTGGGTCCCCCAAAACCAAGGAGATTCTCCTAGAAAGCATCTTTCTCTTCCTCTTGCAAAGTTGAAATCAGTTAGCCAACTCCCCCATGTCTTGAAATGGTAATTTAAGGGATTCTTCCAAGGAGCTTTCTGGGTGGGTCTGGGTCGCTTTCCAGCCTGGGCTGAGGGAGTGAATGCTGCTCAGACTTCCTACCGGCCTGGCTGGTTTTTCGTTTATTTTGTTTGTTTGTGTTTTTGGGAAAAGAGAAACTGTAGGCAGGCCTTGGTTACTGAGCAGCCACCCCGCTTTGTTAACTTGCCTCTTCTCCTGATCTTCCTCTGATCGGCTTCACTCTGTCCTCCCAAACCTTCCCTTTTCCTTTTTCCCTCCCTCCCCCTCTTCCAGGTTCCCTGCCTAAAGTTTGCATTTCCCCCTTGCACCCCCTGGCTGGGGTCATACTTTAACTTCAGTCTCCGTAACAGCGGCTGGAAAGCTATGGAAACCCCTGCTGGGTCCTAATCGCTTCCTTTCCAGCCAGGGACATTTGCAGTTTGATTGGAAGTAAAATCTAAAACCCTAGCTAGTGAAATCAATCAGCCGATTGATCAATCTATGCATCTATTTATTATCTGTTCACCTATCTAGCCATTGATGAATCCTTCCTTTCCCCCATCCTAATCTTCATTATTTAATCAATCTCTATAGACAGACCCATGATGATAATGGGTCACCTTTGTCTTCCTTTTTTTCCTTTGAGGGAAATGAATGGAATGTTTGCCTTTTGCCACCATCCAGGGCTCAGGATTTTCTCAGGGAAGTATTTGTAGCTGGAATCTGCATTCCTCCTTGGTCCTGCCCGATCTTCTCCATCAAGTCGGGCAAGCCAAGAACAGGGTTCTGTTGCAACGATGCATCTGCCCCTTCTGCGGGCGCCTCCGTGTGTGTCGGGGGAACGGTCATGCCAGGACAGCATTCCCCAGCTCAACTTTGGAGCATCTTGGAAAGAGGTGGGGGTGGACACGCTCCCCAAAAGAGGAGGGAGAAGGAAAAAAGTTCTCCATTTTACGTTTCTCCCCCAGTTCCAAATGCTGTCAGCTTTCCTGCGTGTTTTCCTTCCCTAAGTGGCTTATCTGTGCTTTTGTTTCCAGAAGGCAGGGAGTGTGTGAACTGTGGGGCAACCTCGACCCCACTGTGGCGGCGAGATGGCACGGGACACTACCTGTGCAACGCCTGCGGGCTCTATCACAAAATGAACGGACAGAACCGGCCCCTCATTAAGCCCAAGCGAAGGCTGGTAAGTTCTCGGGAAGGGATGGATTCCATGCTGACCATTCTGGGTTTCTCATTTCCTCTCTTCCGGAAGGACAGCTTTCTGCAGGAAATTGACAGGATAGCCTCCAATCGTGTCAGCTGGCTTGGGACAGTTTTTTTTTTTTTCCTTTTTCTTTCTTTCTTTTCTTCTTCTTCTTTTTTTTTTTTTTTTTCAAATTTGATACACAGAACAGCTCTTTTCCCCTCTTTTTCCCCATCCATGTTTCTTAAGTCGCTTGTGAACATTTTAAGGAGACTGAATTCTTGGTTATCAAATCTGCAGTGTATTCCTGAATAGAATAATGGTATGAACAGGACCAGAGCAGCTGGTTTAAGTGCACTGATGAGCACCGTTTGACAGATAGAGACATTTAGTATGAGGACGGAATGTTCCAGAAACCATCCAGAATGGGTTCCTGAAGTTGTGGCGTGTGGCTTCCCAGGAAGGATTACAGACTCAGTGCAATGGATGGATTTGTTATGCTAATGCTTCAAAATGGTTGGAGCTGATTAAATGAATTTCAGAGGCTTCACCAGCAACCAGTGAGCCTAATGCCACTTTCCTCCTTTCTTGGTCTCAGCATTTGAGAACTTTCCACAGGCAATTCCTATGGGAAACGTCGTGTGAGTCCTCTCATACCTGGCATTTGGTCTTCTTTTCTCTTTGAACTACTACCAGTAAGGTGATAGTTTTTTCTCTCCTCTCTCATTATTCTTTTAAAAACTTTTTAAGCATGAGGGATCCTTGAGAAAACCTGGCTCTGTCAAGCATTTATAAGGAAGACAACTTATAGGGGACATTCATTTGCAAGCTCCTCTTTGGAAGTTTGAATAGTGAATGTATGTGACAGACAAATAACAACTCTAGCCACAGCTAAGAGATCAAAATGCTTTATGTGGTGCTGACATTCACCAAGTCGAGATGGGAGGAGGGGAATTTCCCCACGCAGATTAATGGATAAATTAGCATCCATCAATTTCTAAGGAAGGAAAAAGAACACCTCTGTATTCTTTTTAAAGAATACTTTGCCCTCCCCATCAGATTGTAGTGCAACTCAACACCTTTCACATCCTATTTTGAAGAAGGAAAAACTTTCTTTTTTTTTTTTTTTTTTTTTTTGAGACAGAGTCTCACTCTGTCACCCAGGCTGGAGTGCAGTGGCACGATCTCGGCTCACTGCAACCTCCACCTCCCGGGTTCAAGCAATTCTCCTGTCTCAGCCTCCTGAATAGCTGGGAGTAGGGACACCCGCCCCCACACCCGGCAAATTTTTGTATTTTCAGTAGAGACAGGGTTTCGCCTTTTTGGCCAGGCTGGTCTCAAACTCCTGACCTCAGGTGATCCACCGCCTCGGCCTCCCAGAGTGCTGGGATTACAGGCATGAGCCACCGCTCCCAGCCAAAGAAGGAAAACTTTCTAGGGATGGAAATGTCCACATGACTTTAATCTTTGACAATCCTGGATATCGAGGCTTTATTCTTTCTGATCTTTGCCCCCTTCTCCAACTTTCTCAACCTTCCCCCACCTCTCCTCCAGCAGTTTGGTTTTTTTTTTTTTTTTTTTTTTTTTCCTTTCTCTCATGTGCAAAGCTGACTTCCTAGGAAAAAGCTGCCGGATATCTGAGCACTGGAGATAACTCATAAACAACAACTCAGCTTCCCCAACCTAAACACCAAGATGTTTGAACGTATCAGAACAAGAAGTGTTTGAAAAAAAAAAAAAAAAAAGGCTAGAGGTGTTAGTGCAGAATGAATATGATCACACCACAAAAGAATGTTTTGAATCACTCAAAAACCTGGCCTTAGTAAAAAAAAAAAAAAAAAAAGAGAGAGAGAGAGAGAGGAAAAAAAAACAACAAACAAAAACCTTCTTGTTAAAATGTGTCTTGGTACCATTATAGTTGTTTTTTTTGTTTTTTCTGTTTTTTTTCTAATAAA
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AAGGGGCTGACCCAGCAGCCACCAGCGACACAAAAAGGCAGGCCTGCGGCCTGGCTTGGGCTGCAGCCGGTTACTCGCCCACTCACCCTTCACTCTTTCCTTCCAGCCTCCCCCACATCCAGTCTGCCACATCCCTCAGGCTTTTGACCCCAACTGAAAGGTGTCTGGGTGTGATTCAGGCCTGAGCCTTTTTCAAGAACTGAGAAGAGCCGTTGGGTACTTAGGAAGGCGCCTTTGGCATGCACTGCAGCGTGTTTGTGTTTAATCTCAGGGGTTCTGGGGCACAGCAAAGGCTCTCTGGGGACCCTAGGCTAAGAATCTTTTGGAATGTGGAGCAAAAAAAAAAACCTCTCTTACATCCTCATTTTTTTTTTTTTTTTAAAAAACAAAGTAGACAAAAACTAGTGGGCACCATCCCTGACTTTCAAGGGTGCAAGACCCTCTTCCATTTGCAAAAGTCTTTAACTTTCCTGAAGAACTTACCCCTGGAGAGTATCACAGGCCCCCAAGTGTGAACCCCCCTAGTTCCCTCCTACTTGATCTGGGGCTTTCCAAAGGCCCAATAGGTCCCATATCTGCCAAGGCAGATTTTTCCTCCTTTTAGGGGAATCAAAATTCTCAAGCACCCTACTGGGTTCTCTTCTTCTACCCCAGTGGTCCGGGCAGGTTGGAGGTCATTAATTACTCTCTTAAAACAAAACAGTCTTCAGAGCTCATTTTTCTTCCCTACCTACCCTCCGGGGTCCTCCTCTGGGCCTCCCCTCTCTGGGGGACCAACTTGAGTTAAGCCTCCTGTTCCTGCAAGGAAGGGGAGTCCTGGCTTTCTCTGGGCACCCAGAGAACTGGGCGCTAGAGACCCGTGTGTCCCTGGGTCCCCCAAAACCAAGGAGATTCTCCTAGAAAGCATCTTTCTCTTCCTCTTGCAAAGTTGAAATCAGTTAGCCAACTCCCCCATGTCTTGAAATGGTAATTTAAGGGATTCTTCCAAGGAGCTTTCTGGGTGGGTCTGGGTCGCTTTCCAGCCTGGGCTGAGGGAGTGAATGCTGCTCAGACTTCCTACCGGCCTGGCTGGTTTTTCGTTTATTTTGTTTGTTTGTGTTTTTGGGAAAAGAGAAACTGTAGGCAGGCCTTGGTTACTGAGCAGCCACCCCGCTTTGTTAACTTGCCTCTTCTCCTGATCTTCCTCTGATCGGCTTCACTCTGTCCTCCCAAACCTTCCCTTTTCCTTTTTCCCTCCCTCCCCCTCTTCCAGGTTCCCTGCCTAAAGTTTGCATTTCCCCCTTGCACCCCCTGGCTGGGGTCATACTTTAACTTCAGTCTCCGTAACAGCGGCTGGAAAGCTATGGAAACCCCTGCTGGGTCCTAATCGCTTCCTTTCCAGCCAGGGACATTTGCAGTTTGATTGGAAGTAAAATCTAAAACCCTAGCTAGTGAAATCAATCAGCCGATTGATCAATCTATGCATCTATTTATTATCTGTTCACCTATCTAGCCATTGATGAATCCTTCCTTTCCCCCATCCTAATCTTCATTATTTAATCAATCTCTATAGACAGACCCATGATGATAATGGGTCACCTTTGTCTTCCTTTTTTTCCTTTGAGGGAAATGAATGGAATGTTTGCCTTTTGCCACCATCCAGGGCTCAGGATTTTCTCAGGGAAGTATTTGTAGCTGGAATCTGCATTCCTCCTTGGTCCTGCCCGATCTTCTCCATCAAGTCGGGCAAGCCAAGAACAGGGTTCTGTTGCAACGATGCATCTGCCCCTTCTGCGGGCGCCTCCGTGTGTGTCGGGGGAACGGTCATGCCAGGACAGCATTCCCCAGCTCAACTTTGGAGCATCTTGGAAAGAGGTGGGGGTGGACACGCTCCCCAAAAGAGGAGGGAGAAGGAAAAAAGTTCTCCATTTTACGTTTCTCCCCCAGTTCCAAATGCTGTCAGCTTTCCTGCGTGTTTTCCTTCCCTAAGTGGCTTATCTGTGCTTTTGTTTCCAGAAGGCAGGGAGTGTGTGAACTGTGGGGCAACCTCGACCCCACTGTGGCGGCGAAATGGCACGGGACACTACCTGTGCAACGCCTGCGGGCTCTATCACAAAATGAACGGACAGAACCGGCCCCTCATTAAGCCCAAGCGAAGGCTGGTAAGTTCTCGGGAAGGGATGGATTCCATGCTGACCATTCTGGGTTTCTCATTTCCTCTCTTCCGGAAGGACAGCTTTCTGCAGGAAATTGACAGGATAGCCTCCAATCGTGTCAGCTGGCTTGGGACAGTTTTTTTTTTTTTCCTTTTTCTTTCTTTCTTTTCTTCTTCTTCTTTTTTTTTTTTTTTTTCAAATTTGATACACAGAACAGCTCTTTTCCCCTCTTTTTCCCCATCCATGTTTCTTAAGTCGCTTGTGAACATTTTAAGGAGACTGAATTCTTGGTTATCAAATCTGCAGTGTATTCCTGAATAGAATAATGGTATGAACAGGACCAGAGCAGCTGGTTTAAGTGCACTGATGAGCACCGTTTGACAGATAGAGACATTTAGTATGAGGACGGAATGTTCCAGAAACCATCCAGAATGGGTTCCTGAAGTTGTGGCGTGTGGCTTCCCAGGAAGGATTACAGACTCAGTGCAATGGATGGATTTGTTATGCTAATGCTTCAAAATGGTTGGAGCTGATTAAATGAATTTCAGAGGCTTCACCAGCAACCAGTGAGCCTAATGCCACTTTCCTCCTTTCTTGGTCTCAGCATTTGAGAACTTTCCACAGGCAATTCCTATGGGAAACGTCGTGTGAGTCCTCTCATACCTGGCATTTGGTCTTCTTTTCTCTTTGAACTACTACCAGTAAGGTGATAGTTTTTTCTCTCCTCTCTCATTATTCTTTTAAAAACTTTTTAAGCATGAGGGATCCTTGAGAAAACCTGGCTCTGTCAAGCATTTATAAGGAAGACAACTTATAGGGGACATTCATTTGCAAGCTCCTCTTTGGAAGTTTGAATAGTGAATGTATGTGACAGACAAATAACAACTCTAGCCACAGCTAAGAGATCAAAATGCTTTATGTGGTGCTGACATTCACCAAGTCGAGATGGGAGGAGGGGAATTTCCCCACGCAGATTAATGGATAAATTAGCATCCATCAATTTCTAAGGAAGGAAAAAGAACACCTCTGTATTCTTTTTAAAGAATACTTTGCCCTCCCCATCAGATTGTAGTGCAACTCAACACCTTTCACATCCTATTTTGAAGAAGGAAAAACTTTCTTTTTTTTTTTTTTTTTTTTTTTGAGACAGAGTCTCACTCTGTCACCCAGGCTGGAGTGCAGTGGCACGATCTCGGCTCACTGCAACCTCCACCTCCCGGGTTCAAGCAATTCTCCTGTCTCAGCCTCCTGAATAGCTGGGAGTAGGGACACCCGCCCCCACACCCGGCAAATTTTTGTATTTTCAGTAGAGACAGGGTTTCGCCTTTTTGGCCAGGCTGGTCTCAAACTCCTGACCTCAGGTGATCCACCGCCTCGGCCTCCCAGAGTGCTGGGATTACAGGCATGAGCCACCGCTCCCAGCCAAAGAAGGAAAACTTTCTAGGGATGGAAATGTCCACATGACTTTAATCTTTGACAATCCTGGATATCGAGGCTTTATTCTTTCTGATCTTTGCCCCCTTCTCCAACTTTCTCAACCTTCCCCCACCTCTCCTCCAGCAGTTTGGTTTTTTTTTTTTTTTTTTTTTTTTTCCTTTCTCTCATGTGCAAAGCTGACTTCCTAGGAAAAAGCTGCCGGATATCTGAGCACTGGAGATAACTCATAAACAACAACTCAGCTTCCCCAACCTAAACACCAAGATGTTTGAACGTATCAGAACAAGAAGTGTTTGAAAAAAAAAAAAAAAAAAGGCTAGAGGTGTTAGTGCAGAATGAATATGATCACACCACAAAAGAATGTTTTGAATCACTCAAAAACCTGGCCTTAGTAAAAAAAAAAAAAAAAAAAGAGAGAGAGAGAGAGAGGAAAAAAAAACAACAAACAAAAACCTTCTTGTTAAAATGTGTCTTGGTACCATTATAGTTGTTTTTTTTGTTTTTTCTGTTTTTTTTCTAATAAA
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Task1_train_13648
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Given this context: Chromosome 10, gene GATA3 (GATA binding protein 3) — does this variant present pathogenic behavior, and if so, what disease does it relate to?
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Pathogenic; Hypoparathyroidism, deafness, renal disease syndrome
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AAAAGGCAGGCCTGCGGCCTGGCTTGGGCTGCAGCCGGTTACTCGCCCACTCACCCTTCACTCTTTCCTTCCAGCCTCCCCCACATCCAGTCTGCCACATCCCTCAGGCTTTTGACCCCAACTGAAAGGTGTCTGGGTGTGATTCAGGCCTGAGCCTTTTTCAAGAACTGAGAAGAGCCGTTGGGTACTTAGGAAGGCGCCTTTGGCATGCACTGCAGCGTGTTTGTGTTTAATCTCAGGGGTTCTGGGGCACAGCAAAGGCTCTCTGGGGACCCTAGGCTAAGAATCTTTTGGAATGTGGAGCAAAAAAAAAAACCTCTCTTACATCCTCATTTTTTTTTTTTTTTTAAAAAACAAAGTAGACAAAAACTAGTGGGCACCATCCCTGACTTTCAAGGGTGCAAGACCCTCTTCCATTTGCAAAAGTCTTTAACTTTCCTGAAGAACTTACCCCTGGAGAGTATCACAGGCCCCCAAGTGTGAACCCCCCTAGTTCCCTCCTACTTGATCTGGGGCTTTCCAAAGGCCCAATAGGTCCCATATCTGCCAAGGCAGATTTTTCCTCCTTTTAGGGGAATCAAAATTCTCAAGCACCCTACTGGGTTCTCTTCTTCTACCCCAGTGGTCCGGGCAGGTTGGAGGTCATTAATTACTCTCTTAAAACAAAACAGTCTTCAGAGCTCATTTTTCTTCCCTACCTACCCTCCGGGGTCCTCCTCTGGGCCTCCCCTCTCTGGGGGACCAACTTGAGTTAAGCCTCCTGTTCCTGCAAGGAAGGGGAGTCCTGGCTTTCTCTGGGCACCCAGAGAACTGGGCGCTAGAGACCCGTGTGTCCCTGGGTCCCCCAAAACCAAGGAGATTCTCCTAGAAAGCATCTTTCTCTTCCTCTTGCAAAGTTGAAATCAGTTAGCCAACTCCCCCATGTCTTGAAATGGTAATTTAAGGGATTCTTCCAAGGAGCTTTCTGGGTGGGTCTGGGTCGCTTTCCAGCCTGGGCTGAGGGAGTGAATGCTGCTCAGACTTCCTACCGGCCTGGCTGGTTTTTCGTTTATTTTGTTTGTTTGTGTTTTTGGGAAAAGAGAAACTGTAGGCAGGCCTTGGTTACTGAGCAGCCACCCCGCTTTGTTAACTTGCCTCTTCTCCTGATCTTCCTCTGATCGGCTTCACTCTGTCCTCCCAAACCTTCCCTTTTCCTTTTTCCCTCCCTCCCCCTCTTCCAGGTTCCCTGCCTAAAGTTTGCATTTCCCCCTTGCACCCCCTGGCTGGGGTCATACTTTAACTTCAGTCTCCGTAACAGCGGCTGGAAAGCTATGGAAACCCCTGCTGGGTCCTAATCGCTTCCTTTCCAGCCAGGGACATTTGCAGTTTGATTGGAAGTAAAATCTAAAACCCTAGCTAGTGAAATCAATCAGCCGATTGATCAATCTATGCATCTATTTATTATCTGTTCACCTATCTAGCCATTGATGAATCCTTCCTTTCCCCCATCCTAATCTTCATTATTTAATCAATCTCTATAGACAGACCCATGATGATAATGGGTCACCTTTGTCTTCCTTTTTTTCCTTTGAGGGAAATGAATGGAATGTTTGCCTTTTGCCACCATCCAGGGCTCAGGATTTTCTCAGGGAAGTATTTGTAGCTGGAATCTGCATTCCTCCTTGGTCCTGCCCGATCTTCTCCATCAAGTCGGGCAAGCCAAGAACAGGGTTCTGTTGCAACGATGCATCTGCCCCTTCTGCGGGCGCCTCCGTGTGTGTCGGGGGAACGGTCATGCCAGGACAGCATTCCCCAGCTCAACTTTGGAGCATCTTGGAAAGAGGTGGGGGTGGACACGCTCCCCAAAAGAGGAGGGAGAAGGAAAAAAGTTCTCCATTTTACGTTTCTCCCCCAGTTCCAAATGCTGTCAGCTTTCCTGCGTGTTTTCCTTCCCTAAGTGGCTTATCTGTGCTTTTGTTTCCAGAAGGCAGGGAGTGTGTGAACTGTGGGGCAACCTCGACCCCACTGTGGCGGCGAGATGGCACGGGACACTACCTGTGCAACGCCTGCGGGCTCTATCACAAAATGAACGGACAGAACCGGCCCCTCATTAAGCCCAAGCGAAGGCTGGTAAGTTCTCGGGAAGGGATGGATTCCATGCTGACCATTCTGGGTTTCTCATTTCCTCTCTTCCGGAAGGACAGCTTTCTGCAGGAAATTGACAGGATAGCCTCCAATCGTGTCAGCTGGCTTGGGACAGTTTTTTTTTTTTTCCTTTTTCTTTCTTTCTTTTCTTCTTCTTCTTTTTTTTTTTTTTTTTCAAATTTGATACACAGAACAGCTCTTTTCCCCTCTTTTTCCCCATCCATGTTTCTTAAGTCGCTTGTGAACATTTTAAGGAGACTGAATTCTTGGTTATCAAATCTGCAGTGTATTCCTGAATAGAATAATGGTATGAACAGGACCAGAGCAGCTGGTTTAAGTGCACTGATGAGCACCGTTTGACAGATAGAGACATTTAGTATGAGGACGGAATGTTCCAGAAACCATCCAGAATGGGTTCCTGAAGTTGTGGCGTGTGGCTTCCCAGGAAGGATTACAGACTCAGTGCAATGGATGGATTTGTTATGCTAATGCTTCAAAATGGTTGGAGCTGATTAAATGAATTTCAGAGGCTTCACCAGCAACCAGTGAGCCTAATGCCACTTTCCTCCTTTCTTGGTCTCAGCATTTGAGAACTTTCCACAGGCAATTCCTATGGGAAACGTCGTGTGAGTCCTCTCATACCTGGCATTTGGTCTTCTTTTCTCTTTGAACTACTACCAGTAAGGTGATAGTTTTTTCTCTCCTCTCTCATTATTCTTTTAAAAACTTTTTAAGCATGAGGGATCCTTGAGAAAACCTGGCTCTGTCAAGCATTTATAAGGAAGACAACTTATAGGGGACATTCATTTGCAAGCTCCTCTTTGGAAGTTTGAATAGTGAATGTATGTGACAGACAAATAACAACTCTAGCCACAGCTAAGAGATCAAAATGCTTTATGTGGTGCTGACATTCACCAAGTCGAGATGGGAGGAGGGGAATTTCCCCACGCAGATTAATGGATAAATTAGCATCCATCAATTTCTAAGGAAGGAAAAAGAACACCTCTGTATTCTTTTTAAAGAATACTTTGCCCTCCCCATCAGATTGTAGTGCAACTCAACACCTTTCACATCCTATTTTGAAGAAGGAAAAACTTTCTTTTTTTTTTTTTTTTTTTTTTTGAGACAGAGTCTCACTCTGTCACCCAGGCTGGAGTGCAGTGGCACGATCTCGGCTCACTGCAACCTCCACCTCCCGGGTTCAAGCAATTCTCCTGTCTCAGCCTCCTGAATAGCTGGGAGTAGGGACACCCGCCCCCACACCCGGCAAATTTTTGTATTTTCAGTAGAGACAGGGTTTCGCCTTTTTGGCCAGGCTGGTCTCAAACTCCTGACCTCAGGTGATCCACCGCCTCGGCCTCCCAGAGTGCTGGGATTACAGGCATGAGCCACCGCTCCCAGCCAAAGAAGGAAAACTTTCTAGGGATGGAAATGTCCACATGACTTTAATCTTTGACAATCCTGGATATCGAGGCTTTATTCTTTCTGATCTTTGCCCCCTTCTCCAACTTTCTCAACCTTCCCCCACCTCTCCTCCAGCAGTTTGGTTTTTTTTTTTTTTTTTTTTTTTTTCCTTTCTCTCATGTGCAAAGCTGACTTCCTAGGAAAAAGCTGCCGGATATCTGAGCACTGGAGATAACTCATAAACAACAACTCAGCTTCCCCAACCTAAACACCAAGATGTTTGAACGTATCAGAACAAGAAGTGTTTGAAAAAAAAAAAAAAAAAAGGCTAGAGGTGTTAGTGCAGAATGAATATGATCACACCACAAAAGAATGTTTTGAATCACTCAAAAACCTGGCCTTAGTAAAAAAAAAAAAAAAAAAAGAGAGAGAGAGAGAGAGGAAAAAAAAACAACAAACAAAAACCTTCTTGTTAAAATGTGTCTTGGTACCATTATAGTTGTTTTTTTTGTTTTTTCTGTTTTTTTTCTAATAAAAGTAAAGAAGGAAAAAGAGGGATTAAAAGTCT
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AAAAGGCAGGCCTGCGGCCTGGCTTGGGCTGCAGCCGGTTACTCGCCCACTCACCCTTCACTCTTTCCTTCCAGCCTCCCCCACATCCAGTCTGCCACATCCCTCAGGCTTTTGACCCCAACTGAAAGGTGTCTGGGTGTGATTCAGGCCTGAGCCTTTTTCAAGAACTGAGAAGAGCCGTTGGGTACTTAGGAAGGCGCCTTTGGCATGCACTGCAGCGTGTTTGTGTTTAATCTCAGGGGTTCTGGGGCACAGCAAAGGCTCTCTGGGGACCCTAGGCTAAGAATCTTTTGGAATGTGGAGCAAAAAAAAAAACCTCTCTTACATCCTCATTTTTTTTTTTTTTTTAAAAAACAAAGTAGACAAAAACTAGTGGGCACCATCCCTGACTTTCAAGGGTGCAAGACCCTCTTCCATTTGCAAAAGTCTTTAACTTTCCTGAAGAACTTACCCCTGGAGAGTATCACAGGCCCCCAAGTGTGAACCCCCCTAGTTCCCTCCTACTTGATCTGGGGCTTTCCAAAGGCCCAATAGGTCCCATATCTGCCAAGGCAGATTTTTCCTCCTTTTAGGGGAATCAAAATTCTCAAGCACCCTACTGGGTTCTCTTCTTCTACCCCAGTGGTCCGGGCAGGTTGGAGGTCATTAATTACTCTCTTAAAACAAAACAGTCTTCAGAGCTCATTTTTCTTCCCTACCTACCCTCCGGGGTCCTCCTCTGGGCCTCCCCTCTCTGGGGGACCAACTTGAGTTAAGCCTCCTGTTCCTGCAAGGAAGGGGAGTCCTGGCTTTCTCTGGGCACCCAGAGAACTGGGCGCTAGAGACCCGTGTGTCCCTGGGTCCCCCAAAACCAAGGAGATTCTCCTAGAAAGCATCTTTCTCTTCCTCTTGCAAAGTTGAAATCAGTTAGCCAACTCCCCCATGTCTTGAAATGGTAATTTAAGGGATTCTTCCAAGGAGCTTTCTGGGTGGGTCTGGGTCGCTTTCCAGCCTGGGCTGAGGGAGTGAATGCTGCTCAGACTTCCTACCGGCCTGGCTGGTTTTTCGTTTATTTTGTTTGTTTGTGTTTTTGGGAAAAGAGAAACTGTAGGCAGGCCTTGGTTACTGAGCAGCCACCCCGCTTTGTTAACTTGCCTCTTCTCCTGATCTTCCTCTGATCGGCTTCACTCTGTCCTCCCAAACCTTCCCTTTTCCTTTTTCCCTCCCTCCCCCTCTTCCAGGTTCCCTGCCTAAAGTTTGCATTTCCCCCTTGCACCCCCTGGCTGGGGTCATACTTTAACTTCAGTCTCCGTAACAGCGGCTGGAAAGCTATGGAAACCCCTGCTGGGTCCTAATCGCTTCCTTTCCAGCCAGGGACATTTGCAGTTTGATTGGAAGTAAAATCTAAAACCCTAGCTAGTGAAATCAATCAGCCGATTGATCAATCTATGCATCTATTTATTATCTGTTCACCTATCTAGCCATTGATGAATCCTTCCTTTCCCCCATCCTAATCTTCATTATTTAATCAATCTCTATAGACAGACCCATGATGATAATGGGTCACCTTTGTCTTCCTTTTTTTCCTTTGAGGGAAATGAATGGAATGTTTGCCTTTTGCCACCATCCAGGGCTCAGGATTTTCTCAGGGAAGTATTTGTAGCTGGAATCTGCATTCCTCCTTGGTCCTGCCCGATCTTCTCCATCAAGTCGGGCAAGCCAAGAACAGGGTTCTGTTGCAACGATGCATCTGCCCCTTCTGCGGGCGCCTCCGTGTGTGTCGGGGGAACGGTCATGCCAGGACAGCATTCCCCAGCTCAACTTTGGAGCATCTTGGAAAGAGGTGGGGGTGGACACGCTCCCCAAAAGAGGAGGGAGAAGGAAAAAAGTTCTCCATTTTACGTTTCTCCCCCAGTTCCAAATGCTGTCAGCTTTCCTGCGTGTTTTCCTTCCCTAAGTGGCTTATCTGTGCTTTTGTTTCCAGAAGGCAGGGAGTGTGTGAACTGTGGGGCAACCTCGACCCCACTGTGGCGGCGAGATGGCACGGGACACTACCTGTGCAACGCCTGGGGGCTCTATCACAAAATGAACGGACAGAACCGGCCCCTCATTAAGCCCAAGCGAAGGCTGGTAAGTTCTCGGGAAGGGATGGATTCCATGCTGACCATTCTGGGTTTCTCATTTCCTCTCTTCCGGAAGGACAGCTTTCTGCAGGAAATTGACAGGATAGCCTCCAATCGTGTCAGCTGGCTTGGGACAGTTTTTTTTTTTTTCCTTTTTCTTTCTTTCTTTTCTTCTTCTTCTTTTTTTTTTTTTTTTTCAAATTTGATACACAGAACAGCTCTTTTCCCCTCTTTTTCCCCATCCATGTTTCTTAAGTCGCTTGTGAACATTTTAAGGAGACTGAATTCTTGGTTATCAAATCTGCAGTGTATTCCTGAATAGAATAATGGTATGAACAGGACCAGAGCAGCTGGTTTAAGTGCACTGATGAGCACCGTTTGACAGATAGAGACATTTAGTATGAGGACGGAATGTTCCAGAAACCATCCAGAATGGGTTCCTGAAGTTGTGGCGTGTGGCTTCCCAGGAAGGATTACAGACTCAGTGCAATGGATGGATTTGTTATGCTAATGCTTCAAAATGGTTGGAGCTGATTAAATGAATTTCAGAGGCTTCACCAGCAACCAGTGAGCCTAATGCCACTTTCCTCCTTTCTTGGTCTCAGCATTTGAGAACTTTCCACAGGCAATTCCTATGGGAAACGTCGTGTGAGTCCTCTCATACCTGGCATTTGGTCTTCTTTTCTCTTTGAACTACTACCAGTAAGGTGATAGTTTTTTCTCTCCTCTCTCATTATTCTTTTAAAAACTTTTTAAGCATGAGGGATCCTTGAGAAAACCTGGCTCTGTCAAGCATTTATAAGGAAGACAACTTATAGGGGACATTCATTTGCAAGCTCCTCTTTGGAAGTTTGAATAGTGAATGTATGTGACAGACAAATAACAACTCTAGCCACAGCTAAGAGATCAAAATGCTTTATGTGGTGCTGACATTCACCAAGTCGAGATGGGAGGAGGGGAATTTCCCCACGCAGATTAATGGATAAATTAGCATCCATCAATTTCTAAGGAAGGAAAAAGAACACCTCTGTATTCTTTTTAAAGAATACTTTGCCCTCCCCATCAGATTGTAGTGCAACTCAACACCTTTCACATCCTATTTTGAAGAAGGAAAAACTTTCTTTTTTTTTTTTTTTTTTTTTTTGAGACAGAGTCTCACTCTGTCACCCAGGCTGGAGTGCAGTGGCACGATCTCGGCTCACTGCAACCTCCACCTCCCGGGTTCAAGCAATTCTCCTGTCTCAGCCTCCTGAATAGCTGGGAGTAGGGACACCCGCCCCCACACCCGGCAAATTTTTGTATTTTCAGTAGAGACAGGGTTTCGCCTTTTTGGCCAGGCTGGTCTCAAACTCCTGACCTCAGGTGATCCACCGCCTCGGCCTCCCAGAGTGCTGGGATTACAGGCATGAGCCACCGCTCCCAGCCAAAGAAGGAAAACTTTCTAGGGATGGAAATGTCCACATGACTTTAATCTTTGACAATCCTGGATATCGAGGCTTTATTCTTTCTGATCTTTGCCCCCTTCTCCAACTTTCTCAACCTTCCCCCACCTCTCCTCCAGCAGTTTGGTTTTTTTTTTTTTTTTTTTTTTTTTCCTTTCTCTCATGTGCAAAGCTGACTTCCTAGGAAAAAGCTGCCGGATATCTGAGCACTGGAGATAACTCATAAACAACAACTCAGCTTCCCCAACCTAAACACCAAGATGTTTGAACGTATCAGAACAAGAAGTGTTTGAAAAAAAAAAAAAAAAAAGGCTAGAGGTGTTAGTGCAGAATGAATATGATCACACCACAAAAGAATGTTTTGAATCACTCAAAAACCTGGCCTTAGTAAAAAAAAAAAAAAAAAAAGAGAGAGAGAGAGAGAGGAAAAAAAAACAACAAACAAAAACCTTCTTGTTAAAATGTGTCTTGGTACCATTATAGTTGTTTTTTTTGTTTTTTCTGTTTTTTTTCTAATAAAAGTAAAGAAGGAAAAAGAGGGATTAAAAGTCT
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Task1_train_13649
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Mutation context: Chromosome 10, Gene GATA3 (GATA binding protein 3). Determine if this variant is likely to be benign or pathogenic. Mention the disease if applicable.
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Pathogenic; not provided
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AGCCGGTTACTCGCCCACTCACCCTTCACTCTTTCCTTCCAGCCTCCCCCACATCCAGTCTGCCACATCCCTCAGGCTTTTGACCCCAACTGAAAGGTGTCTGGGTGTGATTCAGGCCTGAGCCTTTTTCAAGAACTGAGAAGAGCCGTTGGGTACTTAGGAAGGCGCCTTTGGCATGCACTGCAGCGTGTTTGTGTTTAATCTCAGGGGTTCTGGGGCACAGCAAAGGCTCTCTGGGGACCCTAGGCTAAGAATCTTTTGGAATGTGGAGCAAAAAAAAAAACCTCTCTTACATCCTCATTTTTTTTTTTTTTTTAAAAAACAAAGTAGACAAAAACTAGTGGGCACCATCCCTGACTTTCAAGGGTGCAAGACCCTCTTCCATTTGCAAAAGTCTTTAACTTTCCTGAAGAACTTACCCCTGGAGAGTATCACAGGCCCCCAAGTGTGAACCCCCCTAGTTCCCTCCTACTTGATCTGGGGCTTTCCAAAGGCCCAATAGGTCCCATATCTGCCAAGGCAGATTTTTCCTCCTTTTAGGGGAATCAAAATTCTCAAGCACCCTACTGGGTTCTCTTCTTCTACCCCAGTGGTCCGGGCAGGTTGGAGGTCATTAATTACTCTCTTAAAACAAAACAGTCTTCAGAGCTCATTTTTCTTCCCTACCTACCCTCCGGGGTCCTCCTCTGGGCCTCCCCTCTCTGGGGGACCAACTTGAGTTAAGCCTCCTGTTCCTGCAAGGAAGGGGAGTCCTGGCTTTCTCTGGGCACCCAGAGAACTGGGCGCTAGAGACCCGTGTGTCCCTGGGTCCCCCAAAACCAAGGAGATTCTCCTAGAAAGCATCTTTCTCTTCCTCTTGCAAAGTTGAAATCAGTTAGCCAACTCCCCCATGTCTTGAAATGGTAATTTAAGGGATTCTTCCAAGGAGCTTTCTGGGTGGGTCTGGGTCGCTTTCCAGCCTGGGCTGAGGGAGTGAATGCTGCTCAGACTTCCTACCGGCCTGGCTGGTTTTTCGTTTATTTTGTTTGTTTGTGTTTTTGGGAAAAGAGAAACTGTAGGCAGGCCTTGGTTACTGAGCAGCCACCCCGCTTTGTTAACTTGCCTCTTCTCCTGATCTTCCTCTGATCGGCTTCACTCTGTCCTCCCAAACCTTCCCTTTTCCTTTTTCCCTCCCTCCCCCTCTTCCAGGTTCCCTGCCTAAAGTTTGCATTTCCCCCTTGCACCCCCTGGCTGGGGTCATACTTTAACTTCAGTCTCCGTAACAGCGGCTGGAAAGCTATGGAAACCCCTGCTGGGTCCTAATCGCTTCCTTTCCAGCCAGGGACATTTGCAGTTTGATTGGAAGTAAAATCTAAAACCCTAGCTAGTGAAATCAATCAGCCGATTGATCAATCTATGCATCTATTTATTATCTGTTCACCTATCTAGCCATTGATGAATCCTTCCTTTCCCCCATCCTAATCTTCATTATTTAATCAATCTCTATAGACAGACCCATGATGATAATGGGTCACCTTTGTCTTCCTTTTTTTCCTTTGAGGGAAATGAATGGAATGTTTGCCTTTTGCCACCATCCAGGGCTCAGGATTTTCTCAGGGAAGTATTTGTAGCTGGAATCTGCATTCCTCCTTGGTCCTGCCCGATCTTCTCCATCAAGTCGGGCAAGCCAAGAACAGGGTTCTGTTGCAACGATGCATCTGCCCCTTCTGCGGGCGCCTCCGTGTGTGTCGGGGGAACGGTCATGCCAGGACAGCATTCCCCAGCTCAACTTTGGAGCATCTTGGAAAGAGGTGGGGGTGGACACGCTCCCCAAAAGAGGAGGGAGAAGGAAAAAAGTTCTCCATTTTACGTTTCTCCCCCAGTTCCAAATGCTGTCAGCTTTCCTGCGTGTTTTCCTTCCCTAAGTGGCTTATCTGTGCTTTTGTTTCCAGAAGGCAGGGAGTGTGTGAACTGTGGGGCAACCTCGACCCCACTGTGGCGGCGAGATGGCACGGGACACTACCTGTGCAACGCCTGCGGGCTCTATCACAAAATGAACGGACAGAACCGGCCCCTCATTAAGCCCAAGCGAAGGCTGGTAAGTTCTCGGGAAGGGATGGATTCCATGCTGACCATTCTGGGTTTCTCATTTCCTCTCTTCCGGAAGGACAGCTTTCTGCAGGAAATTGACAGGATAGCCTCCAATCGTGTCAGCTGGCTTGGGACAGTTTTTTTTTTTTTCCTTTTTCTTTCTTTCTTTTCTTCTTCTTCTTTTTTTTTTTTTTTTTCAAATTTGATACACAGAACAGCTCTTTTCCCCTCTTTTTCCCCATCCATGTTTCTTAAGTCGCTTGTGAACATTTTAAGGAGACTGAATTCTTGGTTATCAAATCTGCAGTGTATTCCTGAATAGAATAATGGTATGAACAGGACCAGAGCAGCTGGTTTAAGTGCACTGATGAGCACCGTTTGACAGATAGAGACATTTAGTATGAGGACGGAATGTTCCAGAAACCATCCAGAATGGGTTCCTGAAGTTGTGGCGTGTGGCTTCCCAGGAAGGATTACAGACTCAGTGCAATGGATGGATTTGTTATGCTAATGCTTCAAAATGGTTGGAGCTGATTAAATGAATTTCAGAGGCTTCACCAGCAACCAGTGAGCCTAATGCCACTTTCCTCCTTTCTTGGTCTCAGCATTTGAGAACTTTCCACAGGCAATTCCTATGGGAAACGTCGTGTGAGTCCTCTCATACCTGGCATTTGGTCTTCTTTTCTCTTTGAACTACTACCAGTAAGGTGATAGTTTTTTCTCTCCTCTCTCATTATTCTTTTAAAAACTTTTTAAGCATGAGGGATCCTTGAGAAAACCTGGCTCTGTCAAGCATTTATAAGGAAGACAACTTATAGGGGACATTCATTTGCAAGCTCCTCTTTGGAAGTTTGAATAGTGAATGTATGTGACAGACAAATAACAACTCTAGCCACAGCTAAGAGATCAAAATGCTTTATGTGGTGCTGACATTCACCAAGTCGAGATGGGAGGAGGGGAATTTCCCCACGCAGATTAATGGATAAATTAGCATCCATCAATTTCTAAGGAAGGAAAAAGAACACCTCTGTATTCTTTTTAAAGAATACTTTGCCCTCCCCATCAGATTGTAGTGCAACTCAACACCTTTCACATCCTATTTTGAAGAAGGAAAAACTTTCTTTTTTTTTTTTTTTTTTTTTTTGAGACAGAGTCTCACTCTGTCACCCAGGCTGGAGTGCAGTGGCACGATCTCGGCTCACTGCAACCTCCACCTCCCGGGTTCAAGCAATTCTCCTGTCTCAGCCTCCTGAATAGCTGGGAGTAGGGACACCCGCCCCCACACCCGGCAAATTTTTGTATTTTCAGTAGAGACAGGGTTTCGCCTTTTTGGCCAGGCTGGTCTCAAACTCCTGACCTCAGGTGATCCACCGCCTCGGCCTCCCAGAGTGCTGGGATTACAGGCATGAGCCACCGCTCCCAGCCAAAGAAGGAAAACTTTCTAGGGATGGAAATGTCCACATGACTTTAATCTTTGACAATCCTGGATATCGAGGCTTTATTCTTTCTGATCTTTGCCCCCTTCTCCAACTTTCTCAACCTTCCCCCACCTCTCCTCCAGCAGTTTGGTTTTTTTTTTTTTTTTTTTTTTTTTCCTTTCTCTCATGTGCAAAGCTGACTTCCTAGGAAAAAGCTGCCGGATATCTGAGCACTGGAGATAACTCATAAACAACAACTCAGCTTCCCCAACCTAAACACCAAGATGTTTGAACGTATCAGAACAAGAAGTGTTTGAAAAAAAAAAAAAAAAAAGGCTAGAGGTGTTAGTGCAGAATGAATATGATCACACCACAAAAGAATGTTTTGAATCACTCAAAAACCTGGCCTTAGTAAAAAAAAAAAAAAAAAAAGAGAGAGAGAGAGAGAGGAAAAAAAAACAACAAACAAAAACCTTCTTGTTAAAATGTGTCTTGGTACCATTATAGTTGTTTTTTTTGTTTTTTCTGTTTTTTTTCTAATAAAAGTAAAGAAGGAAAAAGAGGGATTAAAAGTCTCAAGGCATGGGCTGATTGGTGAGCAAAAGTTT
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AGCCGGTTACTCGCCCACTCACCCTTCACTCTTTCCTTCCAGCCTCCCCCACATCCAGTCTGCCACATCCCTCAGGCTTTTGACCCCAACTGAAAGGTGTCTGGGTGTGATTCAGGCCTGAGCCTTTTTCAAGAACTGAGAAGAGCCGTTGGGTACTTAGGAAGGCGCCTTTGGCATGCACTGCAGCGTGTTTGTGTTTAATCTCAGGGGTTCTGGGGCACAGCAAAGGCTCTCTGGGGACCCTAGGCTAAGAATCTTTTGGAATGTGGAGCAAAAAAAAAAACCTCTCTTACATCCTCATTTTTTTTTTTTTTTTAAAAAACAAAGTAGACAAAAACTAGTGGGCACCATCCCTGACTTTCAAGGGTGCAAGACCCTCTTCCATTTGCAAAAGTCTTTAACTTTCCTGAAGAACTTACCCCTGGAGAGTATCACAGGCCCCCAAGTGTGAACCCCCCTAGTTCCCTCCTACTTGATCTGGGGCTTTCCAAAGGCCCAATAGGTCCCATATCTGCCAAGGCAGATTTTTCCTCCTTTTAGGGGAATCAAAATTCTCAAGCACCCTACTGGGTTCTCTTCTTCTACCCCAGTGGTCCGGGCAGGTTGGAGGTCATTAATTACTCTCTTAAAACAAAACAGTCTTCAGAGCTCATTTTTCTTCCCTACCTACCCTCCGGGGTCCTCCTCTGGGCCTCCCCTCTCTGGGGGACCAACTTGAGTTAAGCCTCCTGTTCCTGCAAGGAAGGGGAGTCCTGGCTTTCTCTGGGCACCCAGAGAACTGGGCGCTAGAGACCCGTGTGTCCCTGGGTCCCCCAAAACCAAGGAGATTCTCCTAGAAAGCATCTTTCTCTTCCTCTTGCAAAGTTGAAATCAGTTAGCCAACTCCCCCATGTCTTGAAATGGTAATTTAAGGGATTCTTCCAAGGAGCTTTCTGGGTGGGTCTGGGTCGCTTTCCAGCCTGGGCTGAGGGAGTGAATGCTGCTCAGACTTCCTACCGGCCTGGCTGGTTTTTCGTTTATTTTGTTTGTTTGTGTTTTTGGGAAAAGAGAAACTGTAGGCAGGCCTTGGTTACTGAGCAGCCACCCCGCTTTGTTAACTTGCCTCTTCTCCTGATCTTCCTCTGATCGGCTTCACTCTGTCCTCCCAAACCTTCCCTTTTCCTTTTTCCCTCCCTCCCCCTCTTCCAGGTTCCCTGCCTAAAGTTTGCATTTCCCCCTTGCACCCCCTGGCTGGGGTCATACTTTAACTTCAGTCTCCGTAACAGCGGCTGGAAAGCTATGGAAACCCCTGCTGGGTCCTAATCGCTTCCTTTCCAGCCAGGGACATTTGCAGTTTGATTGGAAGTAAAATCTAAAACCCTAGCTAGTGAAATCAATCAGCCGATTGATCAATCTATGCATCTATTTATTATCTGTTCACCTATCTAGCCATTGATGAATCCTTCCTTTCCCCCATCCTAATCTTCATTATTTAATCAATCTCTATAGACAGACCCATGATGATAATGGGTCACCTTTGTCTTCCTTTTTTTCCTTTGAGGGAAATGAATGGAATGTTTGCCTTTTGCCACCATCCAGGGCTCAGGATTTTCTCAGGGAAGTATTTGTAGCTGGAATCTGCATTCCTCCTTGGTCCTGCCCGATCTTCTCCATCAAGTCGGGCAAGCCAAGAACAGGGTTCTGTTGCAACGATGCATCTGCCCCTTCTGCGGGCGCCTCCGTGTGTGTCGGGGGAACGGTCATGCCAGGACAGCATTCCCCAGCTCAACTTTGGAGCATCTTGGAAAGAGGTGGGGGTGGACACGCTCCCCAAAAGAGGAGGGAGAAGGAAAAAAGTTCTCCATTTTACGTTTCTCCCCCAGTTCCAAATGCTGTCAGCTTTCCTGCGTGTTTTCCTTCCCTAAGTGGCTTATCTGTGCTTTTGTTTCCAGAAGGCAGGGAGTGTGTGAACTGTGGGGCAACCTCGACCCCACTGTGGCGGCGAGATGGCACGGGACACTACCTGTGCAACGCCTGCGGGCTCTATCACAAAATGAACGGACAGAACCAGCCCCTCATTAAGCCCAAGCGAAGGCTGGTAAGTTCTCGGGAAGGGATGGATTCCATGCTGACCATTCTGGGTTTCTCATTTCCTCTCTTCCGGAAGGACAGCTTTCTGCAGGAAATTGACAGGATAGCCTCCAATCGTGTCAGCTGGCTTGGGACAGTTTTTTTTTTTTTCCTTTTTCTTTCTTTCTTTTCTTCTTCTTCTTTTTTTTTTTTTTTTTCAAATTTGATACACAGAACAGCTCTTTTCCCCTCTTTTTCCCCATCCATGTTTCTTAAGTCGCTTGTGAACATTTTAAGGAGACTGAATTCTTGGTTATCAAATCTGCAGTGTATTCCTGAATAGAATAATGGTATGAACAGGACCAGAGCAGCTGGTTTAAGTGCACTGATGAGCACCGTTTGACAGATAGAGACATTTAGTATGAGGACGGAATGTTCCAGAAACCATCCAGAATGGGTTCCTGAAGTTGTGGCGTGTGGCTTCCCAGGAAGGATTACAGACTCAGTGCAATGGATGGATTTGTTATGCTAATGCTTCAAAATGGTTGGAGCTGATTAAATGAATTTCAGAGGCTTCACCAGCAACCAGTGAGCCTAATGCCACTTTCCTCCTTTCTTGGTCTCAGCATTTGAGAACTTTCCACAGGCAATTCCTATGGGAAACGTCGTGTGAGTCCTCTCATACCTGGCATTTGGTCTTCTTTTCTCTTTGAACTACTACCAGTAAGGTGATAGTTTTTTCTCTCCTCTCTCATTATTCTTTTAAAAACTTTTTAAGCATGAGGGATCCTTGAGAAAACCTGGCTCTGTCAAGCATTTATAAGGAAGACAACTTATAGGGGACATTCATTTGCAAGCTCCTCTTTGGAAGTTTGAATAGTGAATGTATGTGACAGACAAATAACAACTCTAGCCACAGCTAAGAGATCAAAATGCTTTATGTGGTGCTGACATTCACCAAGTCGAGATGGGAGGAGGGGAATTTCCCCACGCAGATTAATGGATAAATTAGCATCCATCAATTTCTAAGGAAGGAAAAAGAACACCTCTGTATTCTTTTTAAAGAATACTTTGCCCTCCCCATCAGATTGTAGTGCAACTCAACACCTTTCACATCCTATTTTGAAGAAGGAAAAACTTTCTTTTTTTTTTTTTTTTTTTTTTTGAGACAGAGTCTCACTCTGTCACCCAGGCTGGAGTGCAGTGGCACGATCTCGGCTCACTGCAACCTCCACCTCCCGGGTTCAAGCAATTCTCCTGTCTCAGCCTCCTGAATAGCTGGGAGTAGGGACACCCGCCCCCACACCCGGCAAATTTTTGTATTTTCAGTAGAGACAGGGTTTCGCCTTTTTGGCCAGGCTGGTCTCAAACTCCTGACCTCAGGTGATCCACCGCCTCGGCCTCCCAGAGTGCTGGGATTACAGGCATGAGCCACCGCTCCCAGCCAAAGAAGGAAAACTTTCTAGGGATGGAAATGTCCACATGACTTTAATCTTTGACAATCCTGGATATCGAGGCTTTATTCTTTCTGATCTTTGCCCCCTTCTCCAACTTTCTCAACCTTCCCCCACCTCTCCTCCAGCAGTTTGGTTTTTTTTTTTTTTTTTTTTTTTTTCCTTTCTCTCATGTGCAAAGCTGACTTCCTAGGAAAAAGCTGCCGGATATCTGAGCACTGGAGATAACTCATAAACAACAACTCAGCTTCCCCAACCTAAACACCAAGATGTTTGAACGTATCAGAACAAGAAGTGTTTGAAAAAAAAAAAAAAAAAAGGCTAGAGGTGTTAGTGCAGAATGAATATGATCACACCACAAAAGAATGTTTTGAATCACTCAAAAACCTGGCCTTAGTAAAAAAAAAAAAAAAAAAAGAGAGAGAGAGAGAGAGGAAAAAAAAACAACAAACAAAAACCTTCTTGTTAAAATGTGTCTTGGTACCATTATAGTTGTTTTTTTTGTTTTTTCTGTTTTTTTTCTAATAAAAGTAAAGAAGGAAAAAGAGGGATTAAAAGTCTCAAGGCATGGGCTGATTGGTGAGCAAAAGTTT
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Task1_train_13650
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Mutation context: Chromosome 10, Gene GATA3 (GATA binding protein 3). Determine if this variant is likely to be benign or pathogenic. Mention the disease if applicable.
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Pathogenic; Hypoparathyroidism, deafness, renal disease syndrome
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AGCCGGTTACTCGCCCACTCACCCTTCACTCTTTCCTTCCAGCCTCCCCCACATCCAGTCTGCCACATCCCTCAGGCTTTTGACCCCAACTGAAAGGTGTCTGGGTGTGATTCAGGCCTGAGCCTTTTTCAAGAACTGAGAAGAGCCGTTGGGTACTTAGGAAGGCGCCTTTGGCATGCACTGCAGCGTGTTTGTGTTTAATCTCAGGGGTTCTGGGGCACAGCAAAGGCTCTCTGGGGACCCTAGGCTAAGAATCTTTTGGAATGTGGAGCAAAAAAAAAAACCTCTCTTACATCCTCATTTTTTTTTTTTTTTTAAAAAACAAAGTAGACAAAAACTAGTGGGCACCATCCCTGACTTTCAAGGGTGCAAGACCCTCTTCCATTTGCAAAAGTCTTTAACTTTCCTGAAGAACTTACCCCTGGAGAGTATCACAGGCCCCCAAGTGTGAACCCCCCTAGTTCCCTCCTACTTGATCTGGGGCTTTCCAAAGGCCCAATAGGTCCCATATCTGCCAAGGCAGATTTTTCCTCCTTTTAGGGGAATCAAAATTCTCAAGCACCCTACTGGGTTCTCTTCTTCTACCCCAGTGGTCCGGGCAGGTTGGAGGTCATTAATTACTCTCTTAAAACAAAACAGTCTTCAGAGCTCATTTTTCTTCCCTACCTACCCTCCGGGGTCCTCCTCTGGGCCTCCCCTCTCTGGGGGACCAACTTGAGTTAAGCCTCCTGTTCCTGCAAGGAAGGGGAGTCCTGGCTTTCTCTGGGCACCCAGAGAACTGGGCGCTAGAGACCCGTGTGTCCCTGGGTCCCCCAAAACCAAGGAGATTCTCCTAGAAAGCATCTTTCTCTTCCTCTTGCAAAGTTGAAATCAGTTAGCCAACTCCCCCATGTCTTGAAATGGTAATTTAAGGGATTCTTCCAAGGAGCTTTCTGGGTGGGTCTGGGTCGCTTTCCAGCCTGGGCTGAGGGAGTGAATGCTGCTCAGACTTCCTACCGGCCTGGCTGGTTTTTCGTTTATTTTGTTTGTTTGTGTTTTTGGGAAAAGAGAAACTGTAGGCAGGCCTTGGTTACTGAGCAGCCACCCCGCTTTGTTAACTTGCCTCTTCTCCTGATCTTCCTCTGATCGGCTTCACTCTGTCCTCCCAAACCTTCCCTTTTCCTTTTTCCCTCCCTCCCCCTCTTCCAGGTTCCCTGCCTAAAGTTTGCATTTCCCCCTTGCACCCCCTGGCTGGGGTCATACTTTAACTTCAGTCTCCGTAACAGCGGCTGGAAAGCTATGGAAACCCCTGCTGGGTCCTAATCGCTTCCTTTCCAGCCAGGGACATTTGCAGTTTGATTGGAAGTAAAATCTAAAACCCTAGCTAGTGAAATCAATCAGCCGATTGATCAATCTATGCATCTATTTATTATCTGTTCACCTATCTAGCCATTGATGAATCCTTCCTTTCCCCCATCCTAATCTTCATTATTTAATCAATCTCTATAGACAGACCCATGATGATAATGGGTCACCTTTGTCTTCCTTTTTTTCCTTTGAGGGAAATGAATGGAATGTTTGCCTTTTGCCACCATCCAGGGCTCAGGATTTTCTCAGGGAAGTATTTGTAGCTGGAATCTGCATTCCTCCTTGGTCCTGCCCGATCTTCTCCATCAAGTCGGGCAAGCCAAGAACAGGGTTCTGTTGCAACGATGCATCTGCCCCTTCTGCGGGCGCCTCCGTGTGTGTCGGGGGAACGGTCATGCCAGGACAGCATTCCCCAGCTCAACTTTGGAGCATCTTGGAAAGAGGTGGGGGTGGACACGCTCCCCAAAAGAGGAGGGAGAAGGAAAAAAGTTCTCCATTTTACGTTTCTCCCCCAGTTCCAAATGCTGTCAGCTTTCCTGCGTGTTTTCCTTCCCTAAGTGGCTTATCTGTGCTTTTGTTTCCAGAAGGCAGGGAGTGTGTGAACTGTGGGGCAACCTCGACCCCACTGTGGCGGCGAGATGGCACGGGACACTACCTGTGCAACGCCTGCGGGCTCTATCACAAAATGAACGGACAGAACCGGCCCCTCATTAAGCCCAAGCGAAGGCTGGTAAGTTCTCGGGAAGGGATGGATTCCATGCTGACCATTCTGGGTTTCTCATTTCCTCTCTTCCGGAAGGACAGCTTTCTGCAGGAAATTGACAGGATAGCCTCCAATCGTGTCAGCTGGCTTGGGACAGTTTTTTTTTTTTTCCTTTTTCTTTCTTTCTTTTCTTCTTCTTCTTTTTTTTTTTTTTTTTCAAATTTGATACACAGAACAGCTCTTTTCCCCTCTTTTTCCCCATCCATGTTTCTTAAGTCGCTTGTGAACATTTTAAGGAGACTGAATTCTTGGTTATCAAATCTGCAGTGTATTCCTGAATAGAATAATGGTATGAACAGGACCAGAGCAGCTGGTTTAAGTGCACTGATGAGCACCGTTTGACAGATAGAGACATTTAGTATGAGGACGGAATGTTCCAGAAACCATCCAGAATGGGTTCCTGAAGTTGTGGCGTGTGGCTTCCCAGGAAGGATTACAGACTCAGTGCAATGGATGGATTTGTTATGCTAATGCTTCAAAATGGTTGGAGCTGATTAAATGAATTTCAGAGGCTTCACCAGCAACCAGTGAGCCTAATGCCACTTTCCTCCTTTCTTGGTCTCAGCATTTGAGAACTTTCCACAGGCAATTCCTATGGGAAACGTCGTGTGAGTCCTCTCATACCTGGCATTTGGTCTTCTTTTCTCTTTGAACTACTACCAGTAAGGTGATAGTTTTTTCTCTCCTCTCTCATTATTCTTTTAAAAACTTTTTAAGCATGAGGGATCCTTGAGAAAACCTGGCTCTGTCAAGCATTTATAAGGAAGACAACTTATAGGGGACATTCATTTGCAAGCTCCTCTTTGGAAGTTTGAATAGTGAATGTATGTGACAGACAAATAACAACTCTAGCCACAGCTAAGAGATCAAAATGCTTTATGTGGTGCTGACATTCACCAAGTCGAGATGGGAGGAGGGGAATTTCCCCACGCAGATTAATGGATAAATTAGCATCCATCAATTTCTAAGGAAGGAAAAAGAACACCTCTGTATTCTTTTTAAAGAATACTTTGCCCTCCCCATCAGATTGTAGTGCAACTCAACACCTTTCACATCCTATTTTGAAGAAGGAAAAACTTTCTTTTTTTTTTTTTTTTTTTTTTTGAGACAGAGTCTCACTCTGTCACCCAGGCTGGAGTGCAGTGGCACGATCTCGGCTCACTGCAACCTCCACCTCCCGGGTTCAAGCAATTCTCCTGTCTCAGCCTCCTGAATAGCTGGGAGTAGGGACACCCGCCCCCACACCCGGCAAATTTTTGTATTTTCAGTAGAGACAGGGTTTCGCCTTTTTGGCCAGGCTGGTCTCAAACTCCTGACCTCAGGTGATCCACCGCCTCGGCCTCCCAGAGTGCTGGGATTACAGGCATGAGCCACCGCTCCCAGCCAAAGAAGGAAAACTTTCTAGGGATGGAAATGTCCACATGACTTTAATCTTTGACAATCCTGGATATCGAGGCTTTATTCTTTCTGATCTTTGCCCCCTTCTCCAACTTTCTCAACCTTCCCCCACCTCTCCTCCAGCAGTTTGGTTTTTTTTTTTTTTTTTTTTTTTTTCCTTTCTCTCATGTGCAAAGCTGACTTCCTAGGAAAAAGCTGCCGGATATCTGAGCACTGGAGATAACTCATAAACAACAACTCAGCTTCCCCAACCTAAACACCAAGATGTTTGAACGTATCAGAACAAGAAGTGTTTGAAAAAAAAAAAAAAAAAAGGCTAGAGGTGTTAGTGCAGAATGAATATGATCACACCACAAAAGAATGTTTTGAATCACTCAAAAACCTGGCCTTAGTAAAAAAAAAAAAAAAAAAAGAGAGAGAGAGAGAGAGGAAAAAAAAACAACAAACAAAAACCTTCTTGTTAAAATGTGTCTTGGTACCATTATAGTTGTTTTTTTTGTTTTTTCTGTTTTTTTTCTAATAAAAGTAAAGAAGGAAAAAGAGGGATTAAAAGTCTCAAGGCATGGGCTGATTGGTGAGCAAAAGTTT
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AGCCGGTTACTCGCCCACTCACCCTTCACTCTTTCCTTCCAGCCTCCCCCACATCCAGTCTGCCACATCCCTCAGGCTTTTGACCCCAACTGAAAGGTGTCTGGGTGTGATTCAGGCCTGAGCCTTTTTCAAGAACTGAGAAGAGCCGTTGGGTACTTAGGAAGGCGCCTTTGGCATGCACTGCAGCGTGTTTGTGTTTAATCTCAGGGGTTCTGGGGCACAGCAAAGGCTCTCTGGGGACCCTAGGCTAAGAATCTTTTGGAATGTGGAGCAAAAAAAAAAACCTCTCTTACATCCTCATTTTTTTTTTTTTTTTAAAAAACAAAGTAGACAAAAACTAGTGGGCACCATCCCTGACTTTCAAGGGTGCAAGACCCTCTTCCATTTGCAAAAGTCTTTAACTTTCCTGAAGAACTTACCCCTGGAGAGTATCACAGGCCCCCAAGTGTGAACCCCCCTAGTTCCCTCCTACTTGATCTGGGGCTTTCCAAAGGCCCAATAGGTCCCATATCTGCCAAGGCAGATTTTTCCTCCTTTTAGGGGAATCAAAATTCTCAAGCACCCTACTGGGTTCTCTTCTTCTACCCCAGTGGTCCGGGCAGGTTGGAGGTCATTAATTACTCTCTTAAAACAAAACAGTCTTCAGAGCTCATTTTTCTTCCCTACCTACCCTCCGGGGTCCTCCTCTGGGCCTCCCCTCTCTGGGGGACCAACTTGAGTTAAGCCTCCTGTTCCTGCAAGGAAGGGGAGTCCTGGCTTTCTCTGGGCACCCAGAGAACTGGGCGCTAGAGACCCGTGTGTCCCTGGGTCCCCCAAAACCAAGGAGATTCTCCTAGAAAGCATCTTTCTCTTCCTCTTGCAAAGTTGAAATCAGTTAGCCAACTCCCCCATGTCTTGAAATGGTAATTTAAGGGATTCTTCCAAGGAGCTTTCTGGGTGGGTCTGGGTCGCTTTCCAGCCTGGGCTGAGGGAGTGAATGCTGCTCAGACTTCCTACCGGCCTGGCTGGTTTTTCGTTTATTTTGTTTGTTTGTGTTTTTGGGAAAAGAGAAACTGTAGGCAGGCCTTGGTTACTGAGCAGCCACCCCGCTTTGTTAACTTGCCTCTTCTCCTGATCTTCCTCTGATCGGCTTCACTCTGTCCTCCCAAACCTTCCCTTTTCCTTTTTCCCTCCCTCCCCCTCTTCCAGGTTCCCTGCCTAAAGTTTGCATTTCCCCCTTGCACCCCCTGGCTGGGGTCATACTTTAACTTCAGTCTCCGTAACAGCGGCTGGAAAGCTATGGAAACCCCTGCTGGGTCCTAATCGCTTCCTTTCCAGCCAGGGACATTTGCAGTTTGATTGGAAGTAAAATCTAAAACCCTAGCTAGTGAAATCAATCAGCCGATTGATCAATCTATGCATCTATTTATTATCTGTTCACCTATCTAGCCATTGATGAATCCTTCCTTTCCCCCATCCTAATCTTCATTATTTAATCAATCTCTATAGACAGACCCATGATGATAATGGGTCACCTTTGTCTTCCTTTTTTTCCTTTGAGGGAAATGAATGGAATGTTTGCCTTTTGCCACCATCCAGGGCTCAGGATTTTCTCAGGGAAGTATTTGTAGCTGGAATCTGCATTCCTCCTTGGTCCTGCCCGATCTTCTCCATCAAGTCGGGCAAGCCAAGAACAGGGTTCTGTTGCAACGATGCATCTGCCCCTTCTGCGGGCGCCTCCGTGTGTGTCGGGGGAACGGTCATGCCAGGACAGCATTCCCCAGCTCAACTTTGGAGCATCTTGGAAAGAGGTGGGGGTGGACACGCTCCCCAAAAGAGGAGGGAGAAGGAAAAAAGTTCTCCATTTTACGTTTCTCCCCCAGTTCCAAATGCTGTCAGCTTTCCTGCGTGTTTTCCTTCCCTAAGTGGCTTATCTGTGCTTTTGTTTCCAGAAGGCAGGGAGTGTGTGAACTGTGGGGCAACCTCGACCCCACTGTGGCGGCGAGATGGCACGGGACACTACCTGTGCAACGCCTGCGGGCTCTATCACAAAATGAACGGACAGAACCTGCCCCTCATTAAGCCCAAGCGAAGGCTGGTAAGTTCTCGGGAAGGGATGGATTCCATGCTGACCATTCTGGGTTTCTCATTTCCTCTCTTCCGGAAGGACAGCTTTCTGCAGGAAATTGACAGGATAGCCTCCAATCGTGTCAGCTGGCTTGGGACAGTTTTTTTTTTTTTCCTTTTTCTTTCTTTCTTTTCTTCTTCTTCTTTTTTTTTTTTTTTTTCAAATTTGATACACAGAACAGCTCTTTTCCCCTCTTTTTCCCCATCCATGTTTCTTAAGTCGCTTGTGAACATTTTAAGGAGACTGAATTCTTGGTTATCAAATCTGCAGTGTATTCCTGAATAGAATAATGGTATGAACAGGACCAGAGCAGCTGGTTTAAGTGCACTGATGAGCACCGTTTGACAGATAGAGACATTTAGTATGAGGACGGAATGTTCCAGAAACCATCCAGAATGGGTTCCTGAAGTTGTGGCGTGTGGCTTCCCAGGAAGGATTACAGACTCAGTGCAATGGATGGATTTGTTATGCTAATGCTTCAAAATGGTTGGAGCTGATTAAATGAATTTCAGAGGCTTCACCAGCAACCAGTGAGCCTAATGCCACTTTCCTCCTTTCTTGGTCTCAGCATTTGAGAACTTTCCACAGGCAATTCCTATGGGAAACGTCGTGTGAGTCCTCTCATACCTGGCATTTGGTCTTCTTTTCTCTTTGAACTACTACCAGTAAGGTGATAGTTTTTTCTCTCCTCTCTCATTATTCTTTTAAAAACTTTTTAAGCATGAGGGATCCTTGAGAAAACCTGGCTCTGTCAAGCATTTATAAGGAAGACAACTTATAGGGGACATTCATTTGCAAGCTCCTCTTTGGAAGTTTGAATAGTGAATGTATGTGACAGACAAATAACAACTCTAGCCACAGCTAAGAGATCAAAATGCTTTATGTGGTGCTGACATTCACCAAGTCGAGATGGGAGGAGGGGAATTTCCCCACGCAGATTAATGGATAAATTAGCATCCATCAATTTCTAAGGAAGGAAAAAGAACACCTCTGTATTCTTTTTAAAGAATACTTTGCCCTCCCCATCAGATTGTAGTGCAACTCAACACCTTTCACATCCTATTTTGAAGAAGGAAAAACTTTCTTTTTTTTTTTTTTTTTTTTTTTGAGACAGAGTCTCACTCTGTCACCCAGGCTGGAGTGCAGTGGCACGATCTCGGCTCACTGCAACCTCCACCTCCCGGGTTCAAGCAATTCTCCTGTCTCAGCCTCCTGAATAGCTGGGAGTAGGGACACCCGCCCCCACACCCGGCAAATTTTTGTATTTTCAGTAGAGACAGGGTTTCGCCTTTTTGGCCAGGCTGGTCTCAAACTCCTGACCTCAGGTGATCCACCGCCTCGGCCTCCCAGAGTGCTGGGATTACAGGCATGAGCCACCGCTCCCAGCCAAAGAAGGAAAACTTTCTAGGGATGGAAATGTCCACATGACTTTAATCTTTGACAATCCTGGATATCGAGGCTTTATTCTTTCTGATCTTTGCCCCCTTCTCCAACTTTCTCAACCTTCCCCCACCTCTCCTCCAGCAGTTTGGTTTTTTTTTTTTTTTTTTTTTTTTTCCTTTCTCTCATGTGCAAAGCTGACTTCCTAGGAAAAAGCTGCCGGATATCTGAGCACTGGAGATAACTCATAAACAACAACTCAGCTTCCCCAACCTAAACACCAAGATGTTTGAACGTATCAGAACAAGAAGTGTTTGAAAAAAAAAAAAAAAAAAGGCTAGAGGTGTTAGTGCAGAATGAATATGATCACACCACAAAAGAATGTTTTGAATCACTCAAAAACCTGGCCTTAGTAAAAAAAAAAAAAAAAAAAGAGAGAGAGAGAGAGAGGAAAAAAAAACAACAAACAAAAACCTTCTTGTTAAAATGTGTCTTGGTACCATTATAGTTGTTTTTTTTGTTTTTTCTGTTTTTTTTCTAATAAAAGTAAAGAAGGAAAAAGAGGGATTAAAAGTCTCAAGGCATGGGCTGATTGGTGAGCAAAAGTTT
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Task1_train_13651
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A variant was discovered on Chromosome 10, affecting GATA3 (GATA binding protein 3). What is its functional impact — neutral or pathogenic? State the disease if pathogenic.
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Pathogenic; Hypoparathyroidism, deafness, renal disease syndrome
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ATATCTGGCAGCTTCGGGTGTTGGCTTCAACTTTTTGCTTGATAAAATATTGATATAAAACTGTACCAGAATCCCAGGCCGGGTGCGGTGGCTCACTCCTGTAATCCCAGCACTTTGGGAGGCCAAGGCGGGTAGATCATGAGGTCAGGAGATAGAGACCATCCTGGCTAACACAGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTAGCTGGGGCGGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATGGTGTGAACCCAGGAGGCGGAGCTTGCAGTGAGCCGAGATCGCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAGAAACAAAAGAAAACATAACAAAACAAAAAACAAAAAACAAAAAACAAAACTGTACCAGGATCCCTATAGTTCTTGTTCTGTGTTCTTATAACCATACCAGAATTTTCTTCATCACAGACAGAGACTAAACTCTTTCTTCTCTTACCTTTCCTTTGATAATATTTTTGATCCAGGAATGGGGATAATTTTGCAGTTAAAATTTTCTTTTTATGATGGAAGGTGAGGAGGAGAGAGAGGTTTACATTAGAAGTGACCCAACTCCATTTTCTTCCAATGGTTTTTTTCAGTTTTATTTTTTTAAAGCGTGAACAGAGAATAGTCACCTGATCAATTTAAATATGTCAAAAAGTGAAAGAAAAATCTCTCTTTTAAAGGAAATGAGGGCAGTAACACAACCAAGGAATCAAAATTCAGGTTGAGGCTGACCTTTGACCTGCAACTATGCTACTCCATGAACAGCAAGTAGGAAATGGCTGATTTCATGAAGGTGGACTGGCATCAGAGGAGGCGAGGGATCCAGGGTTCCTGATGAGTGGCAACATTCCTTGGTCTTTTGAGTTTGTTTGATTGGTGAATCAAATTTAGGTGACAGCCAGCTAAAGAGAGTGAGGGTGGCTGTCTTGTGAATGGGAAGTGACCAAGCTTGAAAGCACAGACTGTGGTGGCTCACGCCTGTAATACCGGCACTTTGGGAGGCCGAGGCAGGTGGATCACTTGAGGTCAGGAGTTCAAGACCAGCCTGGCCAACATAGTAAAACCCTGTCTCTACTAAAAATAGAAAAATTAGCCGGGCATGGTGGCAGGTGCTTATAAATCCCAGCTACTCGGGAGTGTGAGGCAGGAGAATTGCTTCAAGCCGTGAGGTGGAGGTTGCAGTGAGCTGAGATCGCACCACTGCACTCCAGCCTGGGTGACAGAGCGAGACTCCATCTCAAAACGAGAAAAAAAGAAAGTGCAGGCTGTATAAATTTAGGAGGTCTTGTTGACCTAGGATGTCCTACTTGGCGCTTCCTCAGGTGTGTCACCCATGTGTATGTGCCACACACTTGCACAGACATTCTTTGCAGAATTTGCTGTTGTGTTGGCACACTGTTCTCTTTATAACTCAGCATTTCTTTATTTGCGATCCAGAGTGTTTTTGGTGCTTGGCTTTGCGCCTCCTTTGCTGTGAATGCATCCTGATGGCTGGAGCCTGTTTGAGGATGGATATTCTTGGGAGTTGTGTTTGAAAACAACCTCTTGTGGCCCTGGACTTGGTGAAAAAGGCAACTGAAAGCCCAGTTCCAAAATGAGGCTGGCTAATTCAAAATTGCCACCCATAAAAATTAACCCTCTGGTGTACTTTGTGGGTTGAGGGTAGGAGGCTAAGACTGCCAGGGAGGAGGCCCCGGCTTCCTGCTCCTACCGGGGAGCAGCAGGTGAAACTCTGACCACGTTACTGCAATCCTGACATGCTCCAGTGGAGTGGCGACATTTTTCTTCTCGAGGCAGCTTTTGGGGATCTGTATTACTTTCATGTGGACCACTTGCTAGTTTTGATTTCAATGATAATTTCTTCCTTCCTTTTTTTTTTTTTCAAGCCTGTCTTCATAGTGATGACAACACATTTAACATTTGTTTTGATTTCACCCTCTCCTCTCTCCCCACTCTCAGTCTGCAGCCAGGAGAGCAGGGACGTCCTGTGCGAACTGTCAGACCACCACAACCACACTCTGGAGGAGGAATGCCAATGGGGACCCTGTCTGCAATGCCTGTGGGCTCTACTACAAGCTTCACAATGTAAGTGGACTGGGATCAGCAAGAACAGGGCTCGCTTCCTGATGGTGACCAGCAAACAGCGTCACCACCACCCTCTCCAAGTGAATCGCTCACCATGGGGGCAGATGACAGGTTCCAAATAATTGATGCAATAGGACCTAGCTTGGAAAACTACTTTGTCTAGCATAGCCGTGCTGAGGCCGAGGGGGCTCACAGCCTGGCAGCCACACAACCCCCTTGGTATGCATTGGACACTCCACATACCATGCAGCAATCCGATGTGCTGAGTGGGCCTGTGTGGTTTATAAGGAAAAAAAAAAAATCTTCCTTTTGGAAAACAAAAAAAGCCACCGGTCCTATTTTGTTGTTTCCTTACATTTTAAACTCTTTGCAGAAAGAGAGAATGAAAGAGAAAGGTAAATAGAATTGTAATGTGTGGCAGGGGGTCTGGAAACTAAGAGGACCCATTTGGTTACTGAGAGGTAAAAAGTCTTGGCTAAATCTGTGCTACAAATTTGAAATGGATCCTCTGTATAAAAGACATGGAAAAAAATGTCTGACAGATTTCGTCTGATGTCTTTGTCCGAACCAACTTTCACGTGTAGAGAGCTAGCTCCTGAGGAAGGTGGCTGGCCTGGGGGATGTTACCATACCAGGGAAAATAAACTGTCATTTTCTCCTTTTATATCATGTTAGCAGAGCGGTAATTGCCAGTCACCTGAATTTAGTTGTGTCATTTCTGATCTTTCCATTTGGGGTCCTCTCATTTTGTAACATATCTTAATCTTAAAAAATTTTTTTTTCAGTTTTTTTTTTTTCCTGAAATCATTCTGGCTCAGAGGCCATGATTCTAGTGAGGCTTCAAGTTTACATTAACTCTAAAGACAAAAATGGTTATTTTGGTCTTTCTCTGTGTTGCTCTCTCTCTCCTTCCTTTTTAGCTCTTTCTGATTCTCCTAAATTCTCTTGGCCAACCTGACTTTGGCAAAGTCCGGGGCTGAACAGGGAGGAGACAGGGACTTTTGCTTGCGGCGGTTCTGGCAATGAACTCATCTTACTCAGGAATACCTGGGAATTGGGGAGGAAGCTTTTCTGGTTGGATTTTTTGAGTCATAAAGAACTTCTCAGGGTGACCCCAGCACCCTGCTTCTTTTTCACTTCTTGGGAGCAAGTTGCTGTGATTCCGAGGAGCCCTGTACGCTCATTCCCTGCCTGTGCCAACTCTCTCGCTGTGGCCCTGGTGCAGTGAATGAAACTAGAGTCTTACTACGATCCCTTATTCTCCCTTAGGTCCTGGGACTGTGGTCTATATACATTTATCAGCAATTCAATCCAAGTTCTATTTTCACTTTGGGGAATTTGCTTGCTGACTACAGTAGAGATAGAGATTCGTGATTAAAATCTGGAAGGCTTGGGCTTATAAGCTATTAGGTTATTAGCATTAGGGTTTATTAGCTATCCAGTCATCAGCACTGCCTATGAAATTATTTTTGGGCTGTAATTTATGGATTTCAAAGAACTTTCATGTTACTTGATTACATTTGAGCCTGAGATAGTCCCATGATGTAGACAGGGCAGAAATTATTTTTATTTCAGTTTTACTTGAGGGAGTTATGACTCAGAAAAGCAAGTCGCTTGCACAAGGTAACGTGGCTGAGAAAGTATAAGAGTCAGGGCCCATTTCAGAGTCAGGAGGCTTTCCTGGGAAGTTGGCAGTGTCAGAACTAAGAGGAGAACCAGGGGAAAGGGAATGCTCTCTTTTTTTAGAGTATAACAAAATTGTAACAAATTGTGTGTGTGTATATTTCATCCCTATATTCGTGGAAGTATAGGAATTATAGGAGATTAACTAGCTATATGTTTTTTTGAATAGTTAGCTGGGATGAGATATGATCTCACTTGTGTCTGATCACATATATATATATTTCTGAAGAACATGAATTTCTCAAATCAAAGTAAAGCTGAGGAATCCTCTCCAT
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ATATCTGGCAGCTTCGGGTGTTGGCTTCAACTTTTTGCTTGATAAAATATTGATATAAAACTGTACCAGAATCCCAGGCCGGGTGCGGTGGCTCACTCCTGTAATCCCAGCACTTTGGGAGGCCAAGGCGGGTAGATCATGAGGTCAGGAGATAGAGACCATCCTGGCTAACACAGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTAGCTGGGGCGGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATGGTGTGAACCCAGGAGGCGGAGCTTGCAGTGAGCCGAGATCGCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAGAAACAAAAGAAAACATAACAAAACAAAAAACAAAAAACAAAAAACAAAACTGTACCAGGATCCCTATAGTTCTTGTTCTGTGTTCTTATAACCATACCAGAATTTTCTTCATCACAGACAGAGACTAAACTCTTTCTTCTCTTACCTTTCCTTTGATAATATTTTTGATCCAGGAATGGGGATAATTTTGCAGTTAAAATTTTCTTTTTATGATGGAAGGTGAGGAGGAGAGAGAGGTTTACATTAGAAGTGACCCAACTCCATTTTCTTCCAATGGTTTTTTTCAGTTTTATTTTTTTAAAGCGTGAACAGAGAATAGTCACCTGATCAATTTAAATATGTCAAAAAGTGAAAGAAAAATCTCTCTTTTAAAGGAAATGAGGGCAGTAACACAACCAAGGAATCAAAATTCAGGTTGAGGCTGACCTTTGACCTGCAACTATGCTACTCCATGAACAGCAAGTAGGAAATGGCTGATTTCATGAAGGTGGACTGGCATCAGAGGAGGCGAGGGATCCAGGGTTCCTGATGAGTGGCAACATTCCTTGGTCTTTTGAGTTTGTTTGATTGGTGAATCAAATTTAGGTGACAGCCAGCTAAAGAGAGTGAGGGTGGCTGTCTTGTGAATGGGAAGTGACCAAGCTTGAAAGCACAGACTGTGGTGGCTCACGCCTGTAATACCGGCACTTTGGGAGGCCGAGGCAGGTGGATCACTTGAGGTCAGGAGTTCAAGACCAGCCTGGCCAACATAGTAAAACCCTGTCTCTACTAAAAATAGAAAAATTAGCCGGGCATGGTGGCAGGTGCTTATAAATCCCAGCTACTCGGGAGTGTGAGGCAGGAGAATTGCTTCAAGCCGTGAGGTGGAGGTTGCAGTGAGCTGAGATCGCACCACTGCACTCCAGCCTGGGTGACAGAGCGAGACTCCATCTCAAAACGAGAAAAAAAGAAAGTGCAGGCTGTATAAATTTAGGAGGTCTTGTTGACCTAGGATGTCCTACTTGGCGCTTCCTCAGGTGTGTCACCCATGTGTATGTGCCACACACTTGCACAGACATTCTTTGCAGAATTTGCTGTTGTGTTGGCACACTGTTCTCTTTATAACTCAGCATTTCTTTATTTGCGATCCAGAGTGTTTTTGGTGCTTGGCTTTGCGCCTCCTTTGCTGTGAATGCATCCTGATGGCTGGAGCCTGTTTGAGGATGGATATTCTTGGGAGTTGTGTTTGAAAACAACCTCTTGTGGCCCTGGACTTGGTGAAAAAGGCAACTGAAAGCCCAGTTCCAAAATGAGGCTGGCTAATTCAAAATTGCCACCCATAAAAATTAACCCTCTGGTGTACTTTGTGGGTTGAGGGTAGGAGGCTAAGACTGCCAGGGAGGAGGCCCCGGCTTCCTGCTCCTACCGGGGAGCAGCAGGTGAAACTCTGACCACGTTACTGCAATCCTGACATGCTCCAGTGGAGTGGCGACATTTTTCTTCTCGAGGCAGCTTTTGGGGATCTGTATTACTTTCATGTGGACCACTTGCTAGTTTTGATTTCAATGATAATTTCTTCCTTCCTTTTTTTTTTTTTCAAGCCTGTCTTCATAGTGATGACAACACATTTAACATTTGTTTTGATTTCACCCTCTCCTCTCTCCCCACTCTCAGTCTGCAGCCAGGAGAGCAGGGACGTCCTGTGCGAACAGTCAGACCACCACAACCACACTCTGGAGGAGGAATGCCAATGGGGACCCTGTCTGCAATGCCTGTGGGCTCTACTACAAGCTTCACAATGTAAGTGGACTGGGATCAGCAAGAACAGGGCTCGCTTCCTGATGGTGACCAGCAAACAGCGTCACCACCACCCTCTCCAAGTGAATCGCTCACCATGGGGGCAGATGACAGGTTCCAAATAATTGATGCAATAGGACCTAGCTTGGAAAACTACTTTGTCTAGCATAGCCGTGCTGAGGCCGAGGGGGCTCACAGCCTGGCAGCCACACAACCCCCTTGGTATGCATTGGACACTCCACATACCATGCAGCAATCCGATGTGCTGAGTGGGCCTGTGTGGTTTATAAGGAAAAAAAAAAAATCTTCCTTTTGGAAAACAAAAAAAGCCACCGGTCCTATTTTGTTGTTTCCTTACATTTTAAACTCTTTGCAGAAAGAGAGAATGAAAGAGAAAGGTAAATAGAATTGTAATGTGTGGCAGGGGGTCTGGAAACTAAGAGGACCCATTTGGTTACTGAGAGGTAAAAAGTCTTGGCTAAATCTGTGCTACAAATTTGAAATGGATCCTCTGTATAAAAGACATGGAAAAAAATGTCTGACAGATTTCGTCTGATGTCTTTGTCCGAACCAACTTTCACGTGTAGAGAGCTAGCTCCTGAGGAAGGTGGCTGGCCTGGGGGATGTTACCATACCAGGGAAAATAAACTGTCATTTTCTCCTTTTATATCATGTTAGCAGAGCGGTAATTGCCAGTCACCTGAATTTAGTTGTGTCATTTCTGATCTTTCCATTTGGGGTCCTCTCATTTTGTAACATATCTTAATCTTAAAAAATTTTTTTTTCAGTTTTTTTTTTTTCCTGAAATCATTCTGGCTCAGAGGCCATGATTCTAGTGAGGCTTCAAGTTTACATTAACTCTAAAGACAAAAATGGTTATTTTGGTCTTTCTCTGTGTTGCTCTCTCTCTCCTTCCTTTTTAGCTCTTTCTGATTCTCCTAAATTCTCTTGGCCAACCTGACTTTGGCAAAGTCCGGGGCTGAACAGGGAGGAGACAGGGACTTTTGCTTGCGGCGGTTCTGGCAATGAACTCATCTTACTCAGGAATACCTGGGAATTGGGGAGGAAGCTTTTCTGGTTGGATTTTTTGAGTCATAAAGAACTTCTCAGGGTGACCCCAGCACCCTGCTTCTTTTTCACTTCTTGGGAGCAAGTTGCTGTGATTCCGAGGAGCCCTGTACGCTCATTCCCTGCCTGTGCCAACTCTCTCGCTGTGGCCCTGGTGCAGTGAATGAAACTAGAGTCTTACTACGATCCCTTATTCTCCCTTAGGTCCTGGGACTGTGGTCTATATACATTTATCAGCAATTCAATCCAAGTTCTATTTTCACTTTGGGGAATTTGCTTGCTGACTACAGTAGAGATAGAGATTCGTGATTAAAATCTGGAAGGCTTGGGCTTATAAGCTATTAGGTTATTAGCATTAGGGTTTATTAGCTATCCAGTCATCAGCACTGCCTATGAAATTATTTTTGGGCTGTAATTTATGGATTTCAAAGAACTTTCATGTTACTTGATTACATTTGAGCCTGAGATAGTCCCATGATGTAGACAGGGCAGAAATTATTTTTATTTCAGTTTTACTTGAGGGAGTTATGACTCAGAAAAGCAAGTCGCTTGCACAAGGTAACGTGGCTGAGAAAGTATAAGAGTCAGGGCCCATTTCAGAGTCAGGAGGCTTTCCTGGGAAGTTGGCAGTGTCAGAACTAAGAGGAGAACCAGGGGAAAGGGAATGCTCTCTTTTTTTAGAGTATAACAAAATTGTAACAAATTGTGTGTGTGTATATTTCATCCCTATATTCGTGGAAGTATAGGAATTATAGGAGATTAACTAGCTATATGTTTTTTTGAATAGTTAGCTGGGATGAGATATGATCTCACTTGTGTCTGATCACATATATATATATTTCTGAAGAACATGAATTTCTCAAATCAAAGTAAAGCTGAGGAATCCTCTCCAT
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Task1_train_13652
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A mutation on Chromosome 10 affecting GATA3 (GATA binding protein 3) has been found. Is it harmful or harmless? What disease, if any, does it cause?
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Pathogenic; Hypoparathyroidism, deafness, renal disease syndrome
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ACCAGAATCCCAGGCCGGGTGCGGTGGCTCACTCCTGTAATCCCAGCACTTTGGGAGGCCAAGGCGGGTAGATCATGAGGTCAGGAGATAGAGACCATCCTGGCTAACACAGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTAGCTGGGGCGGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATGGTGTGAACCCAGGAGGCGGAGCTTGCAGTGAGCCGAGATCGCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAGAAACAAAAGAAAACATAACAAAACAAAAAACAAAAAACAAAAAACAAAACTGTACCAGGATCCCTATAGTTCTTGTTCTGTGTTCTTATAACCATACCAGAATTTTCTTCATCACAGACAGAGACTAAACTCTTTCTTCTCTTACCTTTCCTTTGATAATATTTTTGATCCAGGAATGGGGATAATTTTGCAGTTAAAATTTTCTTTTTATGATGGAAGGTGAGGAGGAGAGAGAGGTTTACATTAGAAGTGACCCAACTCCATTTTCTTCCAATGGTTTTTTTCAGTTTTATTTTTTTAAAGCGTGAACAGAGAATAGTCACCTGATCAATTTAAATATGTCAAAAAGTGAAAGAAAAATCTCTCTTTTAAAGGAAATGAGGGCAGTAACACAACCAAGGAATCAAAATTCAGGTTGAGGCTGACCTTTGACCTGCAACTATGCTACTCCATGAACAGCAAGTAGGAAATGGCTGATTTCATGAAGGTGGACTGGCATCAGAGGAGGCGAGGGATCCAGGGTTCCTGATGAGTGGCAACATTCCTTGGTCTTTTGAGTTTGTTTGATTGGTGAATCAAATTTAGGTGACAGCCAGCTAAAGAGAGTGAGGGTGGCTGTCTTGTGAATGGGAAGTGACCAAGCTTGAAAGCACAGACTGTGGTGGCTCACGCCTGTAATACCGGCACTTTGGGAGGCCGAGGCAGGTGGATCACTTGAGGTCAGGAGTTCAAGACCAGCCTGGCCAACATAGTAAAACCCTGTCTCTACTAAAAATAGAAAAATTAGCCGGGCATGGTGGCAGGTGCTTATAAATCCCAGCTACTCGGGAGTGTGAGGCAGGAGAATTGCTTCAAGCCGTGAGGTGGAGGTTGCAGTGAGCTGAGATCGCACCACTGCACTCCAGCCTGGGTGACAGAGCGAGACTCCATCTCAAAACGAGAAAAAAAGAAAGTGCAGGCTGTATAAATTTAGGAGGTCTTGTTGACCTAGGATGTCCTACTTGGCGCTTCCTCAGGTGTGTCACCCATGTGTATGTGCCACACACTTGCACAGACATTCTTTGCAGAATTTGCTGTTGTGTTGGCACACTGTTCTCTTTATAACTCAGCATTTCTTTATTTGCGATCCAGAGTGTTTTTGGTGCTTGGCTTTGCGCCTCCTTTGCTGTGAATGCATCCTGATGGCTGGAGCCTGTTTGAGGATGGATATTCTTGGGAGTTGTGTTTGAAAACAACCTCTTGTGGCCCTGGACTTGGTGAAAAAGGCAACTGAAAGCCCAGTTCCAAAATGAGGCTGGCTAATTCAAAATTGCCACCCATAAAAATTAACCCTCTGGTGTACTTTGTGGGTTGAGGGTAGGAGGCTAAGACTGCCAGGGAGGAGGCCCCGGCTTCCTGCTCCTACCGGGGAGCAGCAGGTGAAACTCTGACCACGTTACTGCAATCCTGACATGCTCCAGTGGAGTGGCGACATTTTTCTTCTCGAGGCAGCTTTTGGGGATCTGTATTACTTTCATGTGGACCACTTGCTAGTTTTGATTTCAATGATAATTTCTTCCTTCCTTTTTTTTTTTTTCAAGCCTGTCTTCATAGTGATGACAACACATTTAACATTTGTTTTGATTTCACCCTCTCCTCTCTCCCCACTCTCAGTCTGCAGCCAGGAGAGCAGGGACGTCCTGTGCGAACTGTCAGACCACCACAACCACACTCTGGAGGAGGAATGCCAATGGGGACCCTGTCTGCAATGCCTGTGGGCTCTACTACAAGCTTCACAATGTAAGTGGACTGGGATCAGCAAGAACAGGGCTCGCTTCCTGATGGTGACCAGCAAACAGCGTCACCACCACCCTCTCCAAGTGAATCGCTCACCATGGGGGCAGATGACAGGTTCCAAATAATTGATGCAATAGGACCTAGCTTGGAAAACTACTTTGTCTAGCATAGCCGTGCTGAGGCCGAGGGGGCTCACAGCCTGGCAGCCACACAACCCCCTTGGTATGCATTGGACACTCCACATACCATGCAGCAATCCGATGTGCTGAGTGGGCCTGTGTGGTTTATAAGGAAAAAAAAAAAATCTTCCTTTTGGAAAACAAAAAAAGCCACCGGTCCTATTTTGTTGTTTCCTTACATTTTAAACTCTTTGCAGAAAGAGAGAATGAAAGAGAAAGGTAAATAGAATTGTAATGTGTGGCAGGGGGTCTGGAAACTAAGAGGACCCATTTGGTTACTGAGAGGTAAAAAGTCTTGGCTAAATCTGTGCTACAAATTTGAAATGGATCCTCTGTATAAAAGACATGGAAAAAAATGTCTGACAGATTTCGTCTGATGTCTTTGTCCGAACCAACTTTCACGTGTAGAGAGCTAGCTCCTGAGGAAGGTGGCTGGCCTGGGGGATGTTACCATACCAGGGAAAATAAACTGTCATTTTCTCCTTTTATATCATGTTAGCAGAGCGGTAATTGCCAGTCACCTGAATTTAGTTGTGTCATTTCTGATCTTTCCATTTGGGGTCCTCTCATTTTGTAACATATCTTAATCTTAAAAAATTTTTTTTTCAGTTTTTTTTTTTTCCTGAAATCATTCTGGCTCAGAGGCCATGATTCTAGTGAGGCTTCAAGTTTACATTAACTCTAAAGACAAAAATGGTTATTTTGGTCTTTCTCTGTGTTGCTCTCTCTCTCCTTCCTTTTTAGCTCTTTCTGATTCTCCTAAATTCTCTTGGCCAACCTGACTTTGGCAAAGTCCGGGGCTGAACAGGGAGGAGACAGGGACTTTTGCTTGCGGCGGTTCTGGCAATGAACTCATCTTACTCAGGAATACCTGGGAATTGGGGAGGAAGCTTTTCTGGTTGGATTTTTTGAGTCATAAAGAACTTCTCAGGGTGACCCCAGCACCCTGCTTCTTTTTCACTTCTTGGGAGCAAGTTGCTGTGATTCCGAGGAGCCCTGTACGCTCATTCCCTGCCTGTGCCAACTCTCTCGCTGTGGCCCTGGTGCAGTGAATGAAACTAGAGTCTTACTACGATCCCTTATTCTCCCTTAGGTCCTGGGACTGTGGTCTATATACATTTATCAGCAATTCAATCCAAGTTCTATTTTCACTTTGGGGAATTTGCTTGCTGACTACAGTAGAGATAGAGATTCGTGATTAAAATCTGGAAGGCTTGGGCTTATAAGCTATTAGGTTATTAGCATTAGGGTTTATTAGCTATCCAGTCATCAGCACTGCCTATGAAATTATTTTTGGGCTGTAATTTATGGATTTCAAAGAACTTTCATGTTACTTGATTACATTTGAGCCTGAGATAGTCCCATGATGTAGACAGGGCAGAAATTATTTTTATTTCAGTTTTACTTGAGGGAGTTATGACTCAGAAAAGCAAGTCGCTTGCACAAGGTAACGTGGCTGAGAAAGTATAAGAGTCAGGGCCCATTTCAGAGTCAGGAGGCTTTCCTGGGAAGTTGGCAGTGTCAGAACTAAGAGGAGAACCAGGGGAAAGGGAATGCTCTCTTTTTTTAGAGTATAACAAAATTGTAACAAATTGTGTGTGTGTATATTTCATCCCTATATTCGTGGAAGTATAGGAATTATAGGAGATTAACTAGCTATATGTTTTTTTGAATAGTTAGCTGGGATGAGATATGATCTCACTTGTGTCTGATCACATATATATATATTTCTGAAGAACATGAATTTCTCAAATCAAAGTAAAGCTGAGGAATCCTCTCCATGGCTCACTTCTACCTCCTCAATCTTAATGAGCTTGGTCTTCATGGCTGGGCTCCAGTGAATGGG
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ACCAGAATCCCAGGCCGGGTGCGGTGGCTCACTCCTGTAATCCCAGCACTTTGGGAGGCCAAGGCGGGTAGATCATGAGGTCAGGAGATAGAGACCATCCTGGCTAACACAGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTAGCTGGGGCGGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATGGTGTGAACCCAGGAGGCGGAGCTTGCAGTGAGCCGAGATCGCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAGAAACAAAAGAAAACATAACAAAACAAAAAACAAAAAACAAAAAACAAAACTGTACCAGGATCCCTATAGTTCTTGTTCTGTGTTCTTATAACCATACCAGAATTTTCTTCATCACAGACAGAGACTAAACTCTTTCTTCTCTTACCTTTCCTTTGATAATATTTTTGATCCAGGAATGGGGATAATTTTGCAGTTAAAATTTTCTTTTTATGATGGAAGGTGAGGAGGAGAGAGAGGTTTACATTAGAAGTGACCCAACTCCATTTTCTTCCAATGGTTTTTTTCAGTTTTATTTTTTTAAAGCGTGAACAGAGAATAGTCACCTGATCAATTTAAATATGTCAAAAAGTGAAAGAAAAATCTCTCTTTTAAAGGAAATGAGGGCAGTAACACAACCAAGGAATCAAAATTCAGGTTGAGGCTGACCTTTGACCTGCAACTATGCTACTCCATGAACAGCAAGTAGGAAATGGCTGATTTCATGAAGGTGGACTGGCATCAGAGGAGGCGAGGGATCCAGGGTTCCTGATGAGTGGCAACATTCCTTGGTCTTTTGAGTTTGTTTGATTGGTGAATCAAATTTAGGTGACAGCCAGCTAAAGAGAGTGAGGGTGGCTGTCTTGTGAATGGGAAGTGACCAAGCTTGAAAGCACAGACTGTGGTGGCTCACGCCTGTAATACCGGCACTTTGGGAGGCCGAGGCAGGTGGATCACTTGAGGTCAGGAGTTCAAGACCAGCCTGGCCAACATAGTAAAACCCTGTCTCTACTAAAAATAGAAAAATTAGCCGGGCATGGTGGCAGGTGCTTATAAATCCCAGCTACTCGGGAGTGTGAGGCAGGAGAATTGCTTCAAGCCGTGAGGTGGAGGTTGCAGTGAGCTGAGATCGCACCACTGCACTCCAGCCTGGGTGACAGAGCGAGACTCCATCTCAAAACGAGAAAAAAAGAAAGTGCAGGCTGTATAAATTTAGGAGGTCTTGTTGACCTAGGATGTCCTACTTGGCGCTTCCTCAGGTGTGTCACCCATGTGTATGTGCCACACACTTGCACAGACATTCTTTGCAGAATTTGCTGTTGTGTTGGCACACTGTTCTCTTTATAACTCAGCATTTCTTTATTTGCGATCCAGAGTGTTTTTGGTGCTTGGCTTTGCGCCTCCTTTGCTGTGAATGCATCCTGATGGCTGGAGCCTGTTTGAGGATGGATATTCTTGGGAGTTGTGTTTGAAAACAACCTCTTGTGGCCCTGGACTTGGTGAAAAAGGCAACTGAAAGCCCAGTTCCAAAATGAGGCTGGCTAATTCAAAATTGCCACCCATAAAAATTAACCCTCTGGTGTACTTTGTGGGTTGAGGGTAGGAGGCTAAGACTGCCAGGGAGGAGGCCCCGGCTTCCTGCTCCTACCGGGGAGCAGCAGGTGAAACTCTGACCACGTTACTGCAATCCTGACATGCTCCAGTGGAGTGGCGACATTTTTCTTCTCGAGGCAGCTTTTGGGGATCTGTATTACTTTCATGTGGACCACTTGCTAGTTTTGATTTCAATGATAATTTCTTCCTTCCTTTTTTTTTTTTTCAAGCCTGTCTTCATAGTGATGACAACACATTTAACATTTGTTTTGATTTCACCCTCTCCTCTCTCCCCACTCTCAGTCTGCAGCCAGGAGAGCAGGGACGTCCTGTGCGAACTGTCAGACCACCACAACCACACTCTGGAGGAGGAATGCCAATGGGGACCCTGTCTGCAATGCCTATGGGCTCTACTACAAGCTTCACAATGTAAGTGGACTGGGATCAGCAAGAACAGGGCTCGCTTCCTGATGGTGACCAGCAAACAGCGTCACCACCACCCTCTCCAAGTGAATCGCTCACCATGGGGGCAGATGACAGGTTCCAAATAATTGATGCAATAGGACCTAGCTTGGAAAACTACTTTGTCTAGCATAGCCGTGCTGAGGCCGAGGGGGCTCACAGCCTGGCAGCCACACAACCCCCTTGGTATGCATTGGACACTCCACATACCATGCAGCAATCCGATGTGCTGAGTGGGCCTGTGTGGTTTATAAGGAAAAAAAAAAAATCTTCCTTTTGGAAAACAAAAAAAGCCACCGGTCCTATTTTGTTGTTTCCTTACATTTTAAACTCTTTGCAGAAAGAGAGAATGAAAGAGAAAGGTAAATAGAATTGTAATGTGTGGCAGGGGGTCTGGAAACTAAGAGGACCCATTTGGTTACTGAGAGGTAAAAAGTCTTGGCTAAATCTGTGCTACAAATTTGAAATGGATCCTCTGTATAAAAGACATGGAAAAAAATGTCTGACAGATTTCGTCTGATGTCTTTGTCCGAACCAACTTTCACGTGTAGAGAGCTAGCTCCTGAGGAAGGTGGCTGGCCTGGGGGATGTTACCATACCAGGGAAAATAAACTGTCATTTTCTCCTTTTATATCATGTTAGCAGAGCGGTAATTGCCAGTCACCTGAATTTAGTTGTGTCATTTCTGATCTTTCCATTTGGGGTCCTCTCATTTTGTAACATATCTTAATCTTAAAAAATTTTTTTTTCAGTTTTTTTTTTTTCCTGAAATCATTCTGGCTCAGAGGCCATGATTCTAGTGAGGCTTCAAGTTTACATTAACTCTAAAGACAAAAATGGTTATTTTGGTCTTTCTCTGTGTTGCTCTCTCTCTCCTTCCTTTTTAGCTCTTTCTGATTCTCCTAAATTCTCTTGGCCAACCTGACTTTGGCAAAGTCCGGGGCTGAACAGGGAGGAGACAGGGACTTTTGCTTGCGGCGGTTCTGGCAATGAACTCATCTTACTCAGGAATACCTGGGAATTGGGGAGGAAGCTTTTCTGGTTGGATTTTTTGAGTCATAAAGAACTTCTCAGGGTGACCCCAGCACCCTGCTTCTTTTTCACTTCTTGGGAGCAAGTTGCTGTGATTCCGAGGAGCCCTGTACGCTCATTCCCTGCCTGTGCCAACTCTCTCGCTGTGGCCCTGGTGCAGTGAATGAAACTAGAGTCTTACTACGATCCCTTATTCTCCCTTAGGTCCTGGGACTGTGGTCTATATACATTTATCAGCAATTCAATCCAAGTTCTATTTTCACTTTGGGGAATTTGCTTGCTGACTACAGTAGAGATAGAGATTCGTGATTAAAATCTGGAAGGCTTGGGCTTATAAGCTATTAGGTTATTAGCATTAGGGTTTATTAGCTATCCAGTCATCAGCACTGCCTATGAAATTATTTTTGGGCTGTAATTTATGGATTTCAAAGAACTTTCATGTTACTTGATTACATTTGAGCCTGAGATAGTCCCATGATGTAGACAGGGCAGAAATTATTTTTATTTCAGTTTTACTTGAGGGAGTTATGACTCAGAAAAGCAAGTCGCTTGCACAAGGTAACGTGGCTGAGAAAGTATAAGAGTCAGGGCCCATTTCAGAGTCAGGAGGCTTTCCTGGGAAGTTGGCAGTGTCAGAACTAAGAGGAGAACCAGGGGAAAGGGAATGCTCTCTTTTTTTAGAGTATAACAAAATTGTAACAAATTGTGTGTGTGTATATTTCATCCCTATATTCGTGGAAGTATAGGAATTATAGGAGATTAACTAGCTATATGTTTTTTTGAATAGTTAGCTGGGATGAGATATGATCTCACTTGTGTCTGATCACATATATATATATTTCTGAAGAACATGAATTTCTCAAATCAAAGTAAAGCTGAGGAATCCTCTCCATGGCTCACTTCTACCTCCTCAATCTTAATGAGCTTGGTCTTCATGGCTGGGCTCCAGTGAATGGG
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Task1_train_13653
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A genomic change on Chromosome 10 affects GATA3 (GATA binding protein 3). Classify this variant as benign or pathogenic, and name the disease if relevant.
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Pathogenic; Hypoparathyroidism, deafness, renal disease syndrome
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GATGTGTATTGAACAATAAGAGATAATAATCTATTAACATTGTCATCACGTTGCGTTTTGCTCTGCCCTTCCAGACATCTCTACATGGATGCCATAAGCTCTTTCTTCTTATCTAGGTGTTGAGATAACTGCCTACCTCGGTATCAGCATCTCTCAGTGGTGTTGTGACTGGTTATCTGGGGTTGTGTGGCTACTGGTGTAACTAGATATTATATTTAGATACCTGGCTATGTATAGCTAGATATCGGCATCAGAGCTGTGTATCTGGACATTATCTTGGTGAAGATTTGATGTGGGAGTAGATTCCTGTCATCTCTGTAGGCTGCATCTTTATCTTGATGATAACTTTGAAGAAGGAACCTGGAGATGTTCCTCTGGCAGTGACCTTTCTGGGCTCTCCTGCCATCGGTCACGTTGCCTTCCTGGGCTTGGGGAAAATAAGGTCTCAGCTCCAGTGTGGGGCTTTGTTTCCTTCTCCAGGTGACCTCTCCCAGCTCAGCTTCGGGAAGCTGGGTGTTGGCTGCTCTCAGCAGGTTGGCCATTTGAATTCTTCCTTTCTTAGCTGTGATTTTCTGGCTTTGGGAACAGACAGGTAAAACCCAGAGCCAAGGGTTCTCCACCCTTGAGAACTGTGGCGGAAGGCGATGCTTTCAGCCCGGGAAGTCAGGAATGGCCAGGACACTGACATTCACTCCTTGAGTCTGTTTGCCACCCTCCCCTGGGAACATGGCCAGATGTGGAGTTTGCTCTTCCGGGCAGATGTCTGCTGTTGGGGTTAATCTGCTTCTGCCTCCCTGTGGGGAGTAACTTCTGTTTACTTTGTAAAGTTTCCTTTCTTGATTCTGGGCCCCCAAAGCAAATGTATTTTTAAAGGCAAATGAGGTTTATTAAGAAGAGAGAAATGGCAGATGTCTCCGAGACTGAAGTCTCTTGATCTTGAGAGTAGGGTCTGGTCTCTGTCTCTTTACTCTAGCACATTCTTGGTCTTTCCTTTTCAAGATGAGTGCCCTTTTGTGCTTTGCACCCCATAGGTGGTTATTAAATACATGTTGATTGGTTGGTTGGCTGTTTGTCTGGTTAGAAGTGGAGAGTCAGAGCTAGGTGGAAATAGCACTTGCAACCATTGCAGCTGCTGTTGGAATGACACAGGCAAGAGATCACTTTTGGGCCAGGCGCGGTGGCTCATGCCTGCAATTCCAGCACTTTGGGAGGCCGAGGTGGGCAGATCACAATGTCGGGAGTTCGAGACCAGCCTGCCCAATATGGTGAAACCCCGTCTCTACTAAAAATACAAAAATTAGCCAGGTGTGGTGGCAGGCGCCTCTAGTCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATTGCTTGAACCCGGGAGGCAGAGGTTGCAGTGAGCCGAGATCGCGCCACTGCACTCCAGCCTGGGCGACAGCGGGAGACTTCGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAGATCACCTTTAAGAAAGGCATGGTTTCATAAAATACAACCCGGCTACATATAAATTCTAGCGGAAGATTTTATGGCACCTCTTAAAGGCCAGGTAGAAGAGAGGCAACCGAAAGTTACTCAGTAGAACAGTACAGTCCTCATTTCTTCAAGGCAGACAGCCTTAACCACCTAGAGGCTGATGGCCTGGGGAGTACTTTTCAAGTTCTGAAGCAGATTTGTCAAAGTAGCCAAAATGGCATTTCCCTCCTGAAGATTCTTCACTACCTCGATTCTTATGAAATAGTCTAAGGAAGTTCTAAAGAAATAAGACAAGTGAATTCTATTTTCGTTACCAGAGAAATACAATCGTACTAGACGGGGCTGTAATCTGGTAACTGTATGTATTTTAGTTCTTCAGTCCCTGGGAAGGAGACAGGAGAAGGTGGGAGGGAGGAAGGGGCCAGCTGAAATGGAAACAGATCCCTGATCCGGGGCGGTCAGTGGAACCCTTCTTGGTGTGCGAGAGCCTGTGCATTTCAGAGGCAGCAAAAAAGTAAAAAAAAAAAAAAAAAATTGATCTTTGTTTAGATTAACAGACCCCTGACTATGAAGAAGGAAGGCATCCAGACCAGAAACCGAAAAATGTCTAGCAAATCCAAAAAGTGCAAAAAAGTGCATGACTCACTGGAGGACTTCCCCAAGAACAGCTCGTTTAACCCGGCCGCCCTCTCCAGACACATGTCCTCCCTGAGCCACATCTCGCCCTTCAGCCACTCCAGCCACATGCTGACCACGCCCACGCCGATGCACCCGCCATCCAGCCTGTCCTTTGGACCACACCACCCCTCCAGCATGGTCACCGCCATGGGTTAGAGCCCTGCTCGATGCTCACAGGGCCCCCAGCGAGAGTCCCTGCAGTCCCTTTCGACTTGCATTTTTGCAGGAGCAGTATCATGAAGCCTAAACGCGATGGATATATGTTTTTGAAGGCAGAAAGCAAAATTATGTTTGCCACTTTGCAAAGGAGCTCACTGTGGTGTCTGTGTTCCAACCACTGAATCTGGACCCCATCTGTGAATAAGCCATTCTGACTCATATCCCCTATTTAACAGGGTCTCTAGTGCTGTGAAAAAAAAAATGCTGAACATTGCATATAACTTATATTGTAAGAAATACTGTACAATGACTTTATTGCATCTGGGTAGCTGTAAGGCATGAAGGATGCCAAGAAGTTTAAGGAATATGGGAGAAATAGTGTGGAAATTAAGAAGAAACTAGGTCTGATATTCAAATGGACAAACTGCCAGTTTTGTTTCCTTTCACTGGCCACAGTTGTTTGATGCATTAAAAGAAAATAAAAAAAAGAAAAAAGAGAAAAGAAAAAAAAAGAAAAAAGTTGTAGGCGAATCATTTGTTCAAAGCTGTTGGCCTCTGCAAAGGAAATACCAGTTCTGGGCAATCAGTGTTACCGTTCACCAGTTGCCGTTGAGGGTTTCAGAGAGCCTTTTTCTAGGCCTACATGCTTTGTGAACAAGTCCCTGTAATTGTTGTTTGTATGTATAATTCAAAGCACCAAAATAAGAAAAGATGTAGATTTATTTCATCATATTATACAGACCGAACTGTTGTATAAATTTATTTACTGCTAGTCTTAAGAACTGCTTTCTTTCGTTTGTTTGTTTCAATATTTTCCTTCTCTCTCAATTTTTGGTTGAATAAACTAGATTACATTCAGTTGGCCTAAGGTGGTTGTGCTCGGAGGGTTTCTTGTTTCTTTTCCATTTTGTTTTTGGATGATATTTATTAAATAGCTTCTAAGAGTCCGGCGGCATCTGTCTTGTCCCTATTCCTGCAGCCTGTGCTGAGGGTAGCAGTGTATGAGCTACCAGCGTGCATGTCAGCGACCCTGGCCCGACAGGCCACGTCCTGCAATCGGCCCGGCTGCCTCTTCGCCCTGTCGTGTTCTGTGTTAGTGATCACTGCCTTTAATACAGTCTGTTGGAATAATATTATAAGCATAATAATAAAGTGAAAATATTTTAAAACTACAAAATGACATCGTATCCACGTGGTGGCCGAGCTCTTCTAGAATCTGGTAGCTCTAGCTAATTTCAGAGAAAGGAGTTAAAAGAAACAACTTAACAACCAGACATGTTAAGTTATTCACTAGGAACCGATGCTAACCCCAGAGAGTCAACGTCTATTTTGGGGGGAGCTGGGAATATTTGGAGTTCTACATGCGACCTGGAGGAATTTATCCTGGGGCCGGGGTGACATCTGGGGTCCCCTAGTGAGTGGCAGTGTGTCTTCCTGCTCTCCTCCTGCCCTCGAAGGAGGACTGGGAAGATTTCCACGCTGAGATTCCCAGGCGCAAACTGCAGCTGATGCGTTCCTCGAGGTTCTCTTTGAGATGGAAACGAGCCGGCTGCTCGTGTTCATTTCTGTTTTGCTTTTCTACTGTTGAATGAATACCACCACAGTGAAGGGATTATTGGAATGTTTTCGAAACACAAAATAACCATTTTGTAACTTCTGCTGTATAGTTTTCTTTTCCTGTGGATGGAGTGTGTAACTACAGCACACATTTAAATGAAATCTCTGTTAATCGCCTCTGCACTATCTTAGCAAATATTTTAAACCTAAA
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GATGTGTATTGAACAATAAGAGATAATAATCTATTAACATTGTCATCACGTTGCGTTTTGCTCTGCCCTTCCAGACATCTCTACATGGATGCCATAAGCTCTTTCTTCTTATCTAGGTGTTGAGATAACTGCCTACCTCGGTATCAGCATCTCTCAGTGGTGTTGTGACTGGTTATCTGGGGTTGTGTGGCTACTGGTGTAACTAGATATTATATTTAGATACCTGGCTATGTATAGCTAGATATCGGCATCAGAGCTGTGTATCTGGACATTATCTTGGTGAAGATTTGATGTGGGAGTAGATTCCTGTCATCTCTGTAGGCTGCATCTTTATCTTGATGATAACTTTGAAGAAGGAACCTGGAGATGTTCCTCTGGCAGTGACCTTTCTGGGCTCTCCTGCCATCGGTCACGTTGCCTTCCTGGGCTTGGGGAAAATAAGGTCTCAGCTCCAGTGTGGGGCTTTGTTTCCTTCTCCAGGTGACCTCTCCCAGCTCAGCTTCGGGAAGCTGGGTGTTGGCTGCTCTCAGCAGGTTGGCCATTTGAATTCTTCCTTTCTTAGCTGTGATTTTCTGGCTTTGGGAACAGACAGGTAAAACCCAGAGCCAAGGGTTCTCCACCCTTGAGAACTGTGGCGGAAGGCGATGCTTTCAGCCCGGGAAGTCAGGAATGGCCAGGACACTGACATTCACTCCTTGAGTCTGTTTGCCACCCTCCCCTGGGAACATGGCCAGATGTGGAGTTTGCTCTTCCGGGCAGATGTCTGCTGTTGGGGTTAATCTGCTTCTGCCTCCCTGTGGGGAGTAACTTCTGTTTACTTTGTAAAGTTTCCTTTCTTGATTCTGGGCCCCCAAAGCAAATGTATTTTTAAAGGCAAATGAGGTTTATTAAGAAGAGAGAAATGGCAGATGTCTCCGAGACTGAAGTCTCTTGATCTTGAGAGTAGGGTCTGGTCTCTGTCTCTTTACTCTAGCACATTCTTGGTCTTTCCTTTTCAAGATGAGTGCCCTTTTGTGCTTTGCACCCCATAGGTGGTTATTAAATACATGTTGATTGGTTGGTTGGCTGTTTGTCTGGTTAGAAGTGGAGAGTCAGAGCTAGGTGGAAATAGCACTTGCAACCATTGCAGCTGCTGTTGGAATGACACAGGCAAGAGATCACTTTTGGGCCAGGCGCGGTGGCTCATGCCTGCAATTCCAGCACTTTGGGAGGCCGAGGTGGGCAGATCACAATGTCGGGAGTTCGAGACCAGCCTGCCCAATATGGTGAAACCCCGTCTCTACTAAAAATACAAAAATTAGCCAGGTGTGGTGGCAGGCGCCTCTAGTCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATTGCTTGAACCCGGGAGGCAGAGGTTGCAGTGAGCCGAGATCGCGCCACTGCACTCCAGCCTGGGCGACAGCGGGAGACTTCGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAGATCACCTTTAAGAAAGGCATGGTTTCATAAAATACAACCCGGCTACATATAAATTCTAGCGGAAGATTTTATGGCACCTCTTAAAGGCCAGGTAGAAGAGAGGCAACCGAAAGTTACTCAGTAGAACAGTACAGTCCTCATTTCTTCAAGGCAGACAGCCTTAACCACCTAGAGGCTGATGGCCTGGGGAGTACTTTTCAAGTTCTGAAGCAGATTTGTCAAAGTAGCCAAAATGGCATTTCCCTCCTGAAGATTCTTCACTACCTCGATTCTTATGAAATAGTCTAAGGAAGTTCTAAAGAAATAAGACAAGTGAATTCTATTTTCGTTACCAGAGAAATACAATCGTACTAGACGGGGCTGTAATCTGGTAACTGTATGTATTTTAGTTCTTCAGTCCCTGGGAAGGAGACAGGAGAAGGTGGGAGGGAGGAAGGGGCCAGCTGAAATGGAAACAGATCCCTGATCCGGGGCGGTCAGTGGAACCCTTCTTGGTGTGCGAGAGCCTGTGCATTTCAGAGGCAGCAAAAAAGTAAAAAAAAAAAAAAAAAATTGATCTTTGTTTAGATTAACAGTCCCCTGACTATGAAGAAGGAAGGCATCCAGACCAGAAACCGAAAAATGTCTAGCAAATCCAAAAAGTGCAAAAAAGTGCATGACTCACTGGAGGACTTCCCCAAGAACAGCTCGTTTAACCCGGCCGCCCTCTCCAGACACATGTCCTCCCTGAGCCACATCTCGCCCTTCAGCCACTCCAGCCACATGCTGACCACGCCCACGCCGATGCACCCGCCATCCAGCCTGTCCTTTGGACCACACCACCCCTCCAGCATGGTCACCGCCATGGGTTAGAGCCCTGCTCGATGCTCACAGGGCCCCCAGCGAGAGTCCCTGCAGTCCCTTTCGACTTGCATTTTTGCAGGAGCAGTATCATGAAGCCTAAACGCGATGGATATATGTTTTTGAAGGCAGAAAGCAAAATTATGTTTGCCACTTTGCAAAGGAGCTCACTGTGGTGTCTGTGTTCCAACCACTGAATCTGGACCCCATCTGTGAATAAGCCATTCTGACTCATATCCCCTATTTAACAGGGTCTCTAGTGCTGTGAAAAAAAAAATGCTGAACATTGCATATAACTTATATTGTAAGAAATACTGTACAATGACTTTATTGCATCTGGGTAGCTGTAAGGCATGAAGGATGCCAAGAAGTTTAAGGAATATGGGAGAAATAGTGTGGAAATTAAGAAGAAACTAGGTCTGATATTCAAATGGACAAACTGCCAGTTTTGTTTCCTTTCACTGGCCACAGTTGTTTGATGCATTAAAAGAAAATAAAAAAAAGAAAAAAGAGAAAAGAAAAAAAAAGAAAAAAGTTGTAGGCGAATCATTTGTTCAAAGCTGTTGGCCTCTGCAAAGGAAATACCAGTTCTGGGCAATCAGTGTTACCGTTCACCAGTTGCCGTTGAGGGTTTCAGAGAGCCTTTTTCTAGGCCTACATGCTTTGTGAACAAGTCCCTGTAATTGTTGTTTGTATGTATAATTCAAAGCACCAAAATAAGAAAAGATGTAGATTTATTTCATCATATTATACAGACCGAACTGTTGTATAAATTTATTTACTGCTAGTCTTAAGAACTGCTTTCTTTCGTTTGTTTGTTTCAATATTTTCCTTCTCTCTCAATTTTTGGTTGAATAAACTAGATTACATTCAGTTGGCCTAAGGTGGTTGTGCTCGGAGGGTTTCTTGTTTCTTTTCCATTTTGTTTTTGGATGATATTTATTAAATAGCTTCTAAGAGTCCGGCGGCATCTGTCTTGTCCCTATTCCTGCAGCCTGTGCTGAGGGTAGCAGTGTATGAGCTACCAGCGTGCATGTCAGCGACCCTGGCCCGACAGGCCACGTCCTGCAATCGGCCCGGCTGCCTCTTCGCCCTGTCGTGTTCTGTGTTAGTGATCACTGCCTTTAATACAGTCTGTTGGAATAATATTATAAGCATAATAATAAAGTGAAAATATTTTAAAACTACAAAATGACATCGTATCCACGTGGTGGCCGAGCTCTTCTAGAATCTGGTAGCTCTAGCTAATTTCAGAGAAAGGAGTTAAAAGAAACAACTTAACAACCAGACATGTTAAGTTATTCACTAGGAACCGATGCTAACCCCAGAGAGTCAACGTCTATTTTGGGGGGAGCTGGGAATATTTGGAGTTCTACATGCGACCTGGAGGAATTTATCCTGGGGCCGGGGTGACATCTGGGGTCCCCTAGTGAGTGGCAGTGTGTCTTCCTGCTCTCCTCCTGCCCTCGAAGGAGGACTGGGAAGATTTCCACGCTGAGATTCCCAGGCGCAAACTGCAGCTGATGCGTTCCTCGAGGTTCTCTTTGAGATGGAAACGAGCCGGCTGCTCGTGTTCATTTCTGTTTTGCTTTTCTACTGTTGAATGAATACCACCACAGTGAAGGGATTATTGGAATGTTTTCGAAACACAAAATAACCATTTTGTAACTTCTGCTGTATAGTTTTCTTTTCCTGTGGATGGAGTGTGTAACTACAGCACACATTTAAATGAAATCTCTGTTAATCGCCTCTGCACTATCTTAGCAAATATTTTAAACCTAAA
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Task1_train_13654
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The following genetic variant occurs in CELF2, CELF2-AS1 (CUGBP Elav-like family member 2| CELF2 antisense RNA 1) on Chromosome 10. Classify its clinical effect — pathogenic or benign — and list any associated condition.
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Pathogenic; Developmental and epileptic encephalopathy 97
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GTAATCAGGCCAAAGAGAATGTTTTGGCTTCTAAAACTCTAATCCTAAGGTCTAATTTGTGCTATCACCCAGGAAGGTCTGAAGGCATGGTTAAAGGACTCCGCATGTCAGCCACTTACAGTCACCACGTTACCCTAGCAGCAAGGCTGTCAGTCGGGACCCATTCGGCGGCTGCTGTGGCAACTGTATAAACCCGTGTGACAGTTCAGTAGAGAGGGATATGCAAATTAAATCATTATGGGGGGCGGGGGGGTGTGTCTGAGCAGGAGCCTACTTTAGGGAGGCTTCCCTACATGATTTACAAGGCTTTGAGGCTGACTTTTGTGTTTTTCGTAGCTAAACAATATTCTAGATTTGGAAGGGAATTCTGCTTCATGATTTGATTTGAGAAAATACTTCCTTGAAAACAGATTGTTTATCAGCCTACAGCCTCCTTAACCATGTGCTCATACTGATGTAAACCATAGCTGTTAGTGTCAGCAGACAATTCTTGAGCATGATGGACTGGTTTCCATTTTTGTGGAACGCTATAGCACCCAGTTTGCTTGGTGAGCCAGCCGCATTTCTTAGGGCTGCCAGTCATAAGGTAGTGCCCCGTTCCTTCCTAGTTCTTAGCCAGGTTTTGTTATCCATCTCACCTTTGTCCATTTCCATTCTGTAACTATCTTGCTGTTCCTTGATAAAGACCCAGAGGGAAAGGAAAGTCAGAGCAAAAATCTTGGATCCCAGATCACATTTATTGGGAATGAGACTTAATAAAAATGTAAACAGCCACTTCTTTGCAATCCAGCCTACCTCTGAAAAGCTGCCCAGCGTTATGCCGCATGCCCATTTTTATCAGCCGAGAACTGGGCAGAAAAGTCATGTCCTCTTCTTCCTCCTCTAGTTTGTAAAGGAATTTTCTCTTTAGCTTTAATAGCAGATGGATAGAGGTGCTTAGTATAGAACCTTCCGAACAGCTGACGTTTAGACCTAAATGTAAATCAGGACCATAGCTTCCTGTCACCACTCGGATCAGCACCCTTTACAGCCTTGCTATACCTCTGCTGCTGCCTCCCCCAGTGCTGGAACAGACTCTGGGACCAAGATCCTCTTGTCACTGGGTCTTTGCAGTTCTTTTTCAAAAGCTTGCCTTCCCTGCTGTTTATGGTGGAGGTCGTTGCTACAGAGTAAGAGATGGGGAATTCTCTTCAGATGATTAAGTTCTAAGCCGTTGACTATGTATCCCCCAGACTTTGGGAGATGCCAGGGAGCAATTTCCTTTCTGCTGAATTTACTGGAGCTTTGGAAATGGAAAGTGAGATAAGGAGAAAGGCCCAGCACTTCCCTAGTCTCCTTGGTATTAACTCCAAATGGGTAAAAATCAAGTATGAGTGAGTTATTCTAGAGTTTATTCGCTAATTGACCCATCCTCCAGCTAAACAGGTGTAGGCTCTGTGTGACAGACGATGGAGAGCTCGAGTGACAGGCTGGGGCTTGGCAGTATCTGCTGTTCTCCAGCCCTTCCCTTCCCGAGCCTGCCTGTTGGCCTCACCTGGCTGGGACACGTGAGCCCCTAGGGGCCCCCACAGCCCTGAAATATTTACACCACTGCTTGTATGAGTAGCATGTATGGACCTGGGGTTCTTTTGGAGAGATACTAAAGGACTTGAAACACAATGATTTGAGCGAGTTCAGTAAGTGGAACTGAATTCAGCCAAACAATTGAGTCTGAGGTTTCAGTGTTGTGGGGAGGGGTGTGTGCTCCATGATGCCACATTTCCAGTCCAGCCAGCTGCTCCACAGCTGCTCAGTGGGCACGCCCCATCATCCACTCACGGTGGACTCACGATCAGTTCCGCAGAGCTGTGCTGGGCCCGTGGGGCTGGCACCTCATGCTGGCTCTTCAGCCTTCCCCAGAGCTCCAGCCCCCTTTTCTGTTTTCTGCTGGGCTTCCTCTCCAGGCTGACTCCCTCTCTCGGTATTTTCCAGGTTTTGTTAGCTACGACAATCCAGTCTCTGCACAAGCTGCTATCCAAGCTATGAATGGCTTTCAGATCGGCATGAAACGCTTGAAGGTGCAGCTGAAGCGTTCCAAAAACGACAGCAAACCTTACTGATCCTAACCCCAGAGGCTCCCTGCTCTCATTTTAGCTTTCTTAGGGTAAGTCCCACGAGCCAGCCTGTCTCAACAGGGAAGGCAGAGGAGGACCACATTGCCAACTTTTACCAAGAGAGACGGTTATTTTTACAATAAGGCCTCCATGTCCCCACCCACTTCCCCTACCCAGTTTGCCATAATTAAAACTTGGGCTACTTTGTTTCTATTGAGTAATTCCTCCTCCAGTTGTGCCACTGTATTCTCCTTTGTTTTGCGATTTGAATCTCCTTTTACCTTTTTTTTTAATTTTTTTCATTTTTGCTTTTTTTTAAAGAGAAGCATATACACAAATAAATGGCATCTTGAGAATTTAAAAGGCAAACAAACAAACGCTAATGTGCAATTCTAACTCTGAAACCACTGGTGCCCCGAGAGCACTGCCTGGAGAATTCACCCCTCCTTGCCCGGCGCCCGCCCCCGGAGGGAGGGCCCGGTGCTTAGAGGTTAACTTGGTGGCCTAGGAGAGGGAGAAGCCAGGAGAAGCACTTACTCCAACCACACGTCTTTCCACTACATCGGCTTGTTTTACTAAGTAGGATTTTATTTTAGGGTTCAAAGAAACATGACATTTATTGGTCAAAATATTACACTGGTTGTCTATTTTGTTATTGTTTTATTTTAGTTTTTAGAAAGGATTAATGTACAAAAAGATTTAGAGATCTGTTTCTTAAAGCTACAGGGTTTAAAAAATAAAAATGAGTGAAAATACTTGATGTTTCTTGAAAGATAAATTTAATAATAATAAATAAATACATAAATACATAAATAAAAAAGAAAGCCACAGGCCTGTAAATTTTATTTGTAAAAAAGCATTTCTATTTTTATACAAAATTTTTACTGCCTCAGAAATAATGGAAGTTATTTATTGCCTATTGTTAACTTATTGGGTACCTAAAGAGCAGTTCTCTGTCTAGCTAGAACCTTCTGAAGTAGTCTCTAGAGGAATTGTTCTAGGAATGGGCTTTTTTTCACCGTTGAACCCTAGACCTGAAGTTCATGCTTTATCCTCTCGTTGTTTGTATCTGTCTGATTATTTTGTTTGTAACTTCCATTATCTAGTTTACAGTTCAGTCGTCTGACTTTCCCCGTATGTCACATTTGTTGAAACTGGACCTTCTCCCCCTGTCCCTCACCCCAAAACACCCGGAATCCATCCCGTTTCGCTCTCTCCAGATGGATTCTCTTGGGGTTTCATTGTGCTGTGGATAAGGAGTGTAAGAAATGCAAATTATGTGAATGGCTCGGAGACTCCCTAATGACCTAAGATTTGCATTAGTTTTTCTCCTGCACCCTTAAAAGTGATTTTGTTGCCGCTGCATAGATTCTGTGTAACTTTTTACTCTTCCTTGTTTTTTCCCTAGACATCTTCATGCCCGTTAGTTCATCGTTTGCCTAGCATGTCCCTGTGGCGTCTCAAAAAAAAGTTTCATCGTCCCGTCATTGTTTCTGATGTCTTTCTGACCTCACATCATATTTGGTTCTCCTACTGACCTTTGATCTAGTTTGACCTTTGAAATTTGCATGTGACCTCATCTAGCTATGAATTCTGGGAAGTCAATGTGAAAAACATTGCTGCATTCATGCAAGACTGAAATTTATTATTAGACAAATTCATTATAGAAAAAACCTGTGGCAAAAACGTTTCTTTCTTATTTTTTTTCTTTTCCTAAAACAGACTTGAAAGTATTATACAGGGATTGGCATTCTTCCCGGTCACTGGTAACAATAGCAATATGTGTCCAGGGACACAGAATGTTGGTTTCTAACAGACTACTTCCAAAAACAGTTTGAGAAAAAAACTGTCTGATTTTAAGTCTCTAGAGGTCTGTAATAGTTTTTACATTTTTCAGGCAGTGTAAAGTTTTTTGATAAGGCCATTTTAGGTGGCTCACTTTCTCATTAAGATATATATATAGAACCACTTTTTGTAGATTAGTATAAGAAAAATATTTACCC
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GTAATCAGGCCAAAGAGAATGTTTTGGCTTCTAAAACTCTAATCCTAAGGTCTAATTTGTGCTATCACCCAGGAAGGTCTGAAGGCATGGTTAAAGGACTCCGCATGTCAGCCACTTACAGTCACCACGTTACCCTAGCAGCAAGGCTGTCAGTCGGGACCCATTCGGCGGCTGCTGTGGCAACTGTATAAACCCGTGTGACAGTTCAGTAGAGAGGGATATGCAAATTAAATCATTATGGGGGGCGGGGGGGTGTGTCTGAGCAGGAGCCTACTTTAGGGAGGCTTCCCTACATGATTTACAAGGCTTTGAGGCTGACTTTTGTGTTTTTCGTAGCTAAACAATATTCTAGATTTGGAAGGGAATTCTGCTTCATGATTTGATTTGAGAAAATACTTCCTTGAAAACAGATTGTTTATCAGCCTACAGCCTCCTTAACCATGTGCTCATACTGATGTAAACCATAGCTGTTAGTGTCAGCAGACAATTCTTGAGCATGATGGACTGGTTTCCATTTTTGTGGAACGCTATAGCACCCAGTTTGCTTGGTGAGCCAGCCGCATTTCTTAGGGCTGCCAGTCATAAGGTAGTGCCCCGTTCCTTCCTAGTTCTTAGCCAGGTTTTGTTATCCATCTCACCTTTGTCCATTTCCATTCTGTAACTATCTTGCTGTTCCTTGATAAAGACCCAGAGGGAAAGGAAAGTCAGAGCAAAAATCTTGGATCCCAGATCACATTTATTGGGAATGAGACTTAATAAAAATGTAAACAGCCACTTCTTTGCAATCCAGCCTACCTCTGAAAAGCTGCCCAGCGTTATGCCGCATGCCCATTTTTATCAGCCGAGAACTGGGCAGAAAAGTCATGTCCTCTTCTTCCTCCTCTAGTTTGTAAAGGAATTTTCTCTTTAGCTTTAATAGCAGATGGATAGAGGTGCTTAGTATAGAACCTTCCGAACAGCTGACGTTTAGACCTAAATGTAAATCAGGACCATAGCTTCCTGTCACCACTCGGATCAGCACCCTTTACAGCCTTGCTATACCTCTGCTGCTGCCTCCCCCAGTGCTGGAACAGACTCTGGGACCAAGATCCTCTTGTCACTGGGTCTTTGCAGTTCTTTTTCAAAAGCTTGCCTTCCCTGCTGTTTATGGTGGAGGTCGTTGCTACAGAGTAAGAGATGGGGAATTCTCTTCAGATGATTAAGTTCTAAGCCGTTGACTATGTATCCCCCAGACTTTGGGAGATGCCAGGGAGCAATTTCCTTTCTGCTGAATTTACTGGAGCTTTGGAAATGGAAAGTGAGATAAGGAGAAAGGCCCAGCACTTCCCTAGTCTCCTTGGTATTAACTCCAAATGGGTAAAAATCAAGTATGAGTGAGTTATTCTAGAGTTTATTCGCTAATTGACCCATCCTCCAGCTAAACAGGTGTAGGCTCTGTGTGACAGACGATGGAGAGCTCGAGTGACAGGCTGGGGCTTGGCAGTATCTGCTGTTCTCCAGCCCTTCCCTTCCCGAGCCTGCCTGTTGGCCTCACCTGGCTGGGACACGTGAGCCCCTAGGGGCCCCCACAGCCCTGAAATATTTACACCACTGCTTGTATGAGTAGCATGTATGGACCTGGGGTTCTTTTGGAGAGATACTAAAGGACTTGAAACACAATGATTTGAGCGAGTTCAGTAAGTGGAACTGAATTCAGCCAAACAATTGAGTCTGAGGTTTCAGTGTTGTGGGGAGGGGTGTGTGCTCCATGATGCCACATTTCCAGTCCAGCCAGCTGCTCCACAGCTGCTCAGTGGGCACGCCCCATCATCCACTCACGGTGGACTCACGATCAGTTCCGCAGAGCTGTGCTGGGCCCGTGGGGCTGGCACCTCATGCTGGCTCTTCAGCCTTCCCCAGAGCTCCAGCCCCCTTTTCTGTTTTCTGCTGGGCTTCCTCTCCAGGCTGACTCCCTCTCTCGGTATTTTCCAGGTTTTGTTAGCTACGACAATCCAGTCTCTGCACAAGCTGCTATCCAAGCTATGAATGGCTTTCAGATCGGCATGAAAGGCTTGAAGGTGCAGCTGAAGCGTTCCAAAAACGACAGCAAACCTTACTGATCCTAACCCCAGAGGCTCCCTGCTCTCATTTTAGCTTTCTTAGGGTAAGTCCCACGAGCCAGCCTGTCTCAACAGGGAAGGCAGAGGAGGACCACATTGCCAACTTTTACCAAGAGAGACGGTTATTTTTACAATAAGGCCTCCATGTCCCCACCCACTTCCCCTACCCAGTTTGCCATAATTAAAACTTGGGCTACTTTGTTTCTATTGAGTAATTCCTCCTCCAGTTGTGCCACTGTATTCTCCTTTGTTTTGCGATTTGAATCTCCTTTTACCTTTTTTTTTAATTTTTTTCATTTTTGCTTTTTTTTAAAGAGAAGCATATACACAAATAAATGGCATCTTGAGAATTTAAAAGGCAAACAAACAAACGCTAATGTGCAATTCTAACTCTGAAACCACTGGTGCCCCGAGAGCACTGCCTGGAGAATTCACCCCTCCTTGCCCGGCGCCCGCCCCCGGAGGGAGGGCCCGGTGCTTAGAGGTTAACTTGGTGGCCTAGGAGAGGGAGAAGCCAGGAGAAGCACTTACTCCAACCACACGTCTTTCCACTACATCGGCTTGTTTTACTAAGTAGGATTTTATTTTAGGGTTCAAAGAAACATGACATTTATTGGTCAAAATATTACACTGGTTGTCTATTTTGTTATTGTTTTATTTTAGTTTTTAGAAAGGATTAATGTACAAAAAGATTTAGAGATCTGTTTCTTAAAGCTACAGGGTTTAAAAAATAAAAATGAGTGAAAATACTTGATGTTTCTTGAAAGATAAATTTAATAATAATAAATAAATACATAAATACATAAATAAAAAAGAAAGCCACAGGCCTGTAAATTTTATTTGTAAAAAAGCATTTCTATTTTTATACAAAATTTTTACTGCCTCAGAAATAATGGAAGTTATTTATTGCCTATTGTTAACTTATTGGGTACCTAAAGAGCAGTTCTCTGTCTAGCTAGAACCTTCTGAAGTAGTCTCTAGAGGAATTGTTCTAGGAATGGGCTTTTTTTCACCGTTGAACCCTAGACCTGAAGTTCATGCTTTATCCTCTCGTTGTTTGTATCTGTCTGATTATTTTGTTTGTAACTTCCATTATCTAGTTTACAGTTCAGTCGTCTGACTTTCCCCGTATGTCACATTTGTTGAAACTGGACCTTCTCCCCCTGTCCCTCACCCCAAAACACCCGGAATCCATCCCGTTTCGCTCTCTCCAGATGGATTCTCTTGGGGTTTCATTGTGCTGTGGATAAGGAGTGTAAGAAATGCAAATTATGTGAATGGCTCGGAGACTCCCTAATGACCTAAGATTTGCATTAGTTTTTCTCCTGCACCCTTAAAAGTGATTTTGTTGCCGCTGCATAGATTCTGTGTAACTTTTTACTCTTCCTTGTTTTTTCCCTAGACATCTTCATGCCCGTTAGTTCATCGTTTGCCTAGCATGTCCCTGTGGCGTCTCAAAAAAAAGTTTCATCGTCCCGTCATTGTTTCTGATGTCTTTCTGACCTCACATCATATTTGGTTCTCCTACTGACCTTTGATCTAGTTTGACCTTTGAAATTTGCATGTGACCTCATCTAGCTATGAATTCTGGGAAGTCAATGTGAAAAACATTGCTGCATTCATGCAAGACTGAAATTTATTATTAGACAAATTCATTATAGAAAAAACCTGTGGCAAAAACGTTTCTTTCTTATTTTTTTTCTTTTCCTAAAACAGACTTGAAAGTATTATACAGGGATTGGCATTCTTCCCGGTCACTGGTAACAATAGCAATATGTGTCCAGGGACACAGAATGTTGGTTTCTAACAGACTACTTCCAAAAACAGTTTGAGAAAAAAACTGTCTGATTTTAAGTCTCTAGAGGTCTGTAATAGTTTTTACATTTTTCAGGCAGTGTAAAGTTTTTTGATAAGGCCATTTTAGGTGGCTCACTTTCTCATTAAGATATATATATAGAACCACTTTTTGTAGATTAGTATAAGAAAAATATTTACCC
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Task1_train_13655
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A genomic change on Chromosome 10 affects CELF2, CELF2-AS1 (CUGBP Elav-like family member 2| CELF2 antisense RNA 1). Classify this variant as benign or pathogenic, and name the disease if relevant.
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Pathogenic; not provided
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GTAATCAGGCCAAAGAGAATGTTTTGGCTTCTAAAACTCTAATCCTAAGGTCTAATTTGTGCTATCACCCAGGAAGGTCTGAAGGCATGGTTAAAGGACTCCGCATGTCAGCCACTTACAGTCACCACGTTACCCTAGCAGCAAGGCTGTCAGTCGGGACCCATTCGGCGGCTGCTGTGGCAACTGTATAAACCCGTGTGACAGTTCAGTAGAGAGGGATATGCAAATTAAATCATTATGGGGGGCGGGGGGGTGTGTCTGAGCAGGAGCCTACTTTAGGGAGGCTTCCCTACATGATTTACAAGGCTTTGAGGCTGACTTTTGTGTTTTTCGTAGCTAAACAATATTCTAGATTTGGAAGGGAATTCTGCTTCATGATTTGATTTGAGAAAATACTTCCTTGAAAACAGATTGTTTATCAGCCTACAGCCTCCTTAACCATGTGCTCATACTGATGTAAACCATAGCTGTTAGTGTCAGCAGACAATTCTTGAGCATGATGGACTGGTTTCCATTTTTGTGGAACGCTATAGCACCCAGTTTGCTTGGTGAGCCAGCCGCATTTCTTAGGGCTGCCAGTCATAAGGTAGTGCCCCGTTCCTTCCTAGTTCTTAGCCAGGTTTTGTTATCCATCTCACCTTTGTCCATTTCCATTCTGTAACTATCTTGCTGTTCCTTGATAAAGACCCAGAGGGAAAGGAAAGTCAGAGCAAAAATCTTGGATCCCAGATCACATTTATTGGGAATGAGACTTAATAAAAATGTAAACAGCCACTTCTTTGCAATCCAGCCTACCTCTGAAAAGCTGCCCAGCGTTATGCCGCATGCCCATTTTTATCAGCCGAGAACTGGGCAGAAAAGTCATGTCCTCTTCTTCCTCCTCTAGTTTGTAAAGGAATTTTCTCTTTAGCTTTAATAGCAGATGGATAGAGGTGCTTAGTATAGAACCTTCCGAACAGCTGACGTTTAGACCTAAATGTAAATCAGGACCATAGCTTCCTGTCACCACTCGGATCAGCACCCTTTACAGCCTTGCTATACCTCTGCTGCTGCCTCCCCCAGTGCTGGAACAGACTCTGGGACCAAGATCCTCTTGTCACTGGGTCTTTGCAGTTCTTTTTCAAAAGCTTGCCTTCCCTGCTGTTTATGGTGGAGGTCGTTGCTACAGAGTAAGAGATGGGGAATTCTCTTCAGATGATTAAGTTCTAAGCCGTTGACTATGTATCCCCCAGACTTTGGGAGATGCCAGGGAGCAATTTCCTTTCTGCTGAATTTACTGGAGCTTTGGAAATGGAAAGTGAGATAAGGAGAAAGGCCCAGCACTTCCCTAGTCTCCTTGGTATTAACTCCAAATGGGTAAAAATCAAGTATGAGTGAGTTATTCTAGAGTTTATTCGCTAATTGACCCATCCTCCAGCTAAACAGGTGTAGGCTCTGTGTGACAGACGATGGAGAGCTCGAGTGACAGGCTGGGGCTTGGCAGTATCTGCTGTTCTCCAGCCCTTCCCTTCCCGAGCCTGCCTGTTGGCCTCACCTGGCTGGGACACGTGAGCCCCTAGGGGCCCCCACAGCCCTGAAATATTTACACCACTGCTTGTATGAGTAGCATGTATGGACCTGGGGTTCTTTTGGAGAGATACTAAAGGACTTGAAACACAATGATTTGAGCGAGTTCAGTAAGTGGAACTGAATTCAGCCAAACAATTGAGTCTGAGGTTTCAGTGTTGTGGGGAGGGGTGTGTGCTCCATGATGCCACATTTCCAGTCCAGCCAGCTGCTCCACAGCTGCTCAGTGGGCACGCCCCATCATCCACTCACGGTGGACTCACGATCAGTTCCGCAGAGCTGTGCTGGGCCCGTGGGGCTGGCACCTCATGCTGGCTCTTCAGCCTTCCCCAGAGCTCCAGCCCCCTTTTCTGTTTTCTGCTGGGCTTCCTCTCCAGGCTGACTCCCTCTCTCGGTATTTTCCAGGTTTTGTTAGCTACGACAATCCAGTCTCTGCACAAGCTGCTATCCAAGCTATGAATGGCTTTCAGATCGGCATGAAACGCTTGAAGGTGCAGCTGAAGCGTTCCAAAAACGACAGCAAACCTTACTGATCCTAACCCCAGAGGCTCCCTGCTCTCATTTTAGCTTTCTTAGGGTAAGTCCCACGAGCCAGCCTGTCTCAACAGGGAAGGCAGAGGAGGACCACATTGCCAACTTTTACCAAGAGAGACGGTTATTTTTACAATAAGGCCTCCATGTCCCCACCCACTTCCCCTACCCAGTTTGCCATAATTAAAACTTGGGCTACTTTGTTTCTATTGAGTAATTCCTCCTCCAGTTGTGCCACTGTATTCTCCTTTGTTTTGCGATTTGAATCTCCTTTTACCTTTTTTTTTAATTTTTTTCATTTTTGCTTTTTTTTAAAGAGAAGCATATACACAAATAAATGGCATCTTGAGAATTTAAAAGGCAAACAAACAAACGCTAATGTGCAATTCTAACTCTGAAACCACTGGTGCCCCGAGAGCACTGCCTGGAGAATTCACCCCTCCTTGCCCGGCGCCCGCCCCCGGAGGGAGGGCCCGGTGCTTAGAGGTTAACTTGGTGGCCTAGGAGAGGGAGAAGCCAGGAGAAGCACTTACTCCAACCACACGTCTTTCCACTACATCGGCTTGTTTTACTAAGTAGGATTTTATTTTAGGGTTCAAAGAAACATGACATTTATTGGTCAAAATATTACACTGGTTGTCTATTTTGTTATTGTTTTATTTTAGTTTTTAGAAAGGATTAATGTACAAAAAGATTTAGAGATCTGTTTCTTAAAGCTACAGGGTTTAAAAAATAAAAATGAGTGAAAATACTTGATGTTTCTTGAAAGATAAATTTAATAATAATAAATAAATACATAAATACATAAATAAAAAAGAAAGCCACAGGCCTGTAAATTTTATTTGTAAAAAAGCATTTCTATTTTTATACAAAATTTTTACTGCCTCAGAAATAATGGAAGTTATTTATTGCCTATTGTTAACTTATTGGGTACCTAAAGAGCAGTTCTCTGTCTAGCTAGAACCTTCTGAAGTAGTCTCTAGAGGAATTGTTCTAGGAATGGGCTTTTTTTCACCGTTGAACCCTAGACCTGAAGTTCATGCTTTATCCTCTCGTTGTTTGTATCTGTCTGATTATTTTGTTTGTAACTTCCATTATCTAGTTTACAGTTCAGTCGTCTGACTTTCCCCGTATGTCACATTTGTTGAAACTGGACCTTCTCCCCCTGTCCCTCACCCCAAAACACCCGGAATCCATCCCGTTTCGCTCTCTCCAGATGGATTCTCTTGGGGTTTCATTGTGCTGTGGATAAGGAGTGTAAGAAATGCAAATTATGTGAATGGCTCGGAGACTCCCTAATGACCTAAGATTTGCATTAGTTTTTCTCCTGCACCCTTAAAAGTGATTTTGTTGCCGCTGCATAGATTCTGTGTAACTTTTTACTCTTCCTTGTTTTTTCCCTAGACATCTTCATGCCCGTTAGTTCATCGTTTGCCTAGCATGTCCCTGTGGCGTCTCAAAAAAAAGTTTCATCGTCCCGTCATTGTTTCTGATGTCTTTCTGACCTCACATCATATTTGGTTCTCCTACTGACCTTTGATCTAGTTTGACCTTTGAAATTTGCATGTGACCTCATCTAGCTATGAATTCTGGGAAGTCAATGTGAAAAACATTGCTGCATTCATGCAAGACTGAAATTTATTATTAGACAAATTCATTATAGAAAAAACCTGTGGCAAAAACGTTTCTTTCTTATTTTTTTTCTTTTCCTAAAACAGACTTGAAAGTATTATACAGGGATTGGCATTCTTCCCGGTCACTGGTAACAATAGCAATATGTGTCCAGGGACACAGAATGTTGGTTTCTAACAGACTACTTCCAAAAACAGTTTGAGAAAAAAACTGTCTGATTTTAAGTCTCTAGAGGTCTGTAATAGTTTTTACATTTTTCAGGCAGTGTAAAGTTTTTTGATAAGGCCATTTTAGGTGGCTCACTTTCTCATTAAGATATATATATAGAACCACTTTTTGTAGATTAGTATAAGAAAAATATTTACCC
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GTAATCAGGCCAAAGAGAATGTTTTGGCTTCTAAAACTCTAATCCTAAGGTCTAATTTGTGCTATCACCCAGGAAGGTCTGAAGGCATGGTTAAAGGACTCCGCATGTCAGCCACTTACAGTCACCACGTTACCCTAGCAGCAAGGCTGTCAGTCGGGACCCATTCGGCGGCTGCTGTGGCAACTGTATAAACCCGTGTGACAGTTCAGTAGAGAGGGATATGCAAATTAAATCATTATGGGGGGCGGGGGGGTGTGTCTGAGCAGGAGCCTACTTTAGGGAGGCTTCCCTACATGATTTACAAGGCTTTGAGGCTGACTTTTGTGTTTTTCGTAGCTAAACAATATTCTAGATTTGGAAGGGAATTCTGCTTCATGATTTGATTTGAGAAAATACTTCCTTGAAAACAGATTGTTTATCAGCCTACAGCCTCCTTAACCATGTGCTCATACTGATGTAAACCATAGCTGTTAGTGTCAGCAGACAATTCTTGAGCATGATGGACTGGTTTCCATTTTTGTGGAACGCTATAGCACCCAGTTTGCTTGGTGAGCCAGCCGCATTTCTTAGGGCTGCCAGTCATAAGGTAGTGCCCCGTTCCTTCCTAGTTCTTAGCCAGGTTTTGTTATCCATCTCACCTTTGTCCATTTCCATTCTGTAACTATCTTGCTGTTCCTTGATAAAGACCCAGAGGGAAAGGAAAGTCAGAGCAAAAATCTTGGATCCCAGATCACATTTATTGGGAATGAGACTTAATAAAAATGTAAACAGCCACTTCTTTGCAATCCAGCCTACCTCTGAAAAGCTGCCCAGCGTTATGCCGCATGCCCATTTTTATCAGCCGAGAACTGGGCAGAAAAGTCATGTCCTCTTCTTCCTCCTCTAGTTTGTAAAGGAATTTTCTCTTTAGCTTTAATAGCAGATGGATAGAGGTGCTTAGTATAGAACCTTCCGAACAGCTGACGTTTAGACCTAAATGTAAATCAGGACCATAGCTTCCTGTCACCACTCGGATCAGCACCCTTTACAGCCTTGCTATACCTCTGCTGCTGCCTCCCCCAGTGCTGGAACAGACTCTGGGACCAAGATCCTCTTGTCACTGGGTCTTTGCAGTTCTTTTTCAAAAGCTTGCCTTCCCTGCTGTTTATGGTGGAGGTCGTTGCTACAGAGTAAGAGATGGGGAATTCTCTTCAGATGATTAAGTTCTAAGCCGTTGACTATGTATCCCCCAGACTTTGGGAGATGCCAGGGAGCAATTTCCTTTCTGCTGAATTTACTGGAGCTTTGGAAATGGAAAGTGAGATAAGGAGAAAGGCCCAGCACTTCCCTAGTCTCCTTGGTATTAACTCCAAATGGGTAAAAATCAAGTATGAGTGAGTTATTCTAGAGTTTATTCGCTAATTGACCCATCCTCCAGCTAAACAGGTGTAGGCTCTGTGTGACAGACGATGGAGAGCTCGAGTGACAGGCTGGGGCTTGGCAGTATCTGCTGTTCTCCAGCCCTTCCCTTCCCGAGCCTGCCTGTTGGCCTCACCTGGCTGGGACACGTGAGCCCCTAGGGGCCCCCACAGCCCTGAAATATTTACACCACTGCTTGTATGAGTAGCATGTATGGACCTGGGGTTCTTTTGGAGAGATACTAAAGGACTTGAAACACAATGATTTGAGCGAGTTCAGTAAGTGGAACTGAATTCAGCCAAACAATTGAGTCTGAGGTTTCAGTGTTGTGGGGAGGGGTGTGTGCTCCATGATGCCACATTTCCAGTCCAGCCAGCTGCTCCACAGCTGCTCAGTGGGCACGCCCCATCATCCACTCACGGTGGACTCACGATCAGTTCCGCAGAGCTGTGCTGGGCCCGTGGGGCTGGCACCTCATGCTGGCTCTTCAGCCTTCCCCAGAGCTCCAGCCCCCTTTTCTGTTTTCTGCTGGGCTTCCTCTCCAGGCTGACTCCCTCTCTCGGTATTTTCCAGGTTTTGTTAGCTACGACAATCCAGTCTCTGCACAAGCTGCTATCCAAGCTATGAATGGCTTTCAGATCGGCATGAAATGCTTGAAGGTGCAGCTGAAGCGTTCCAAAAACGACAGCAAACCTTACTGATCCTAACCCCAGAGGCTCCCTGCTCTCATTTTAGCTTTCTTAGGGTAAGTCCCACGAGCCAGCCTGTCTCAACAGGGAAGGCAGAGGAGGACCACATTGCCAACTTTTACCAAGAGAGACGGTTATTTTTACAATAAGGCCTCCATGTCCCCACCCACTTCCCCTACCCAGTTTGCCATAATTAAAACTTGGGCTACTTTGTTTCTATTGAGTAATTCCTCCTCCAGTTGTGCCACTGTATTCTCCTTTGTTTTGCGATTTGAATCTCCTTTTACCTTTTTTTTTAATTTTTTTCATTTTTGCTTTTTTTTAAAGAGAAGCATATACACAAATAAATGGCATCTTGAGAATTTAAAAGGCAAACAAACAAACGCTAATGTGCAATTCTAACTCTGAAACCACTGGTGCCCCGAGAGCACTGCCTGGAGAATTCACCCCTCCTTGCCCGGCGCCCGCCCCCGGAGGGAGGGCCCGGTGCTTAGAGGTTAACTTGGTGGCCTAGGAGAGGGAGAAGCCAGGAGAAGCACTTACTCCAACCACACGTCTTTCCACTACATCGGCTTGTTTTACTAAGTAGGATTTTATTTTAGGGTTCAAAGAAACATGACATTTATTGGTCAAAATATTACACTGGTTGTCTATTTTGTTATTGTTTTATTTTAGTTTTTAGAAAGGATTAATGTACAAAAAGATTTAGAGATCTGTTTCTTAAAGCTACAGGGTTTAAAAAATAAAAATGAGTGAAAATACTTGATGTTTCTTGAAAGATAAATTTAATAATAATAAATAAATACATAAATACATAAATAAAAAAGAAAGCCACAGGCCTGTAAATTTTATTTGTAAAAAAGCATTTCTATTTTTATACAAAATTTTTACTGCCTCAGAAATAATGGAAGTTATTTATTGCCTATTGTTAACTTATTGGGTACCTAAAGAGCAGTTCTCTGTCTAGCTAGAACCTTCTGAAGTAGTCTCTAGAGGAATTGTTCTAGGAATGGGCTTTTTTTCACCGTTGAACCCTAGACCTGAAGTTCATGCTTTATCCTCTCGTTGTTTGTATCTGTCTGATTATTTTGTTTGTAACTTCCATTATCTAGTTTACAGTTCAGTCGTCTGACTTTCCCCGTATGTCACATTTGTTGAAACTGGACCTTCTCCCCCTGTCCCTCACCCCAAAACACCCGGAATCCATCCCGTTTCGCTCTCTCCAGATGGATTCTCTTGGGGTTTCATTGTGCTGTGGATAAGGAGTGTAAGAAATGCAAATTATGTGAATGGCTCGGAGACTCCCTAATGACCTAAGATTTGCATTAGTTTTTCTCCTGCACCCTTAAAAGTGATTTTGTTGCCGCTGCATAGATTCTGTGTAACTTTTTACTCTTCCTTGTTTTTTCCCTAGACATCTTCATGCCCGTTAGTTCATCGTTTGCCTAGCATGTCCCTGTGGCGTCTCAAAAAAAAGTTTCATCGTCCCGTCATTGTTTCTGATGTCTTTCTGACCTCACATCATATTTGGTTCTCCTACTGACCTTTGATCTAGTTTGACCTTTGAAATTTGCATGTGACCTCATCTAGCTATGAATTCTGGGAAGTCAATGTGAAAAACATTGCTGCATTCATGCAAGACTGAAATTTATTATTAGACAAATTCATTATAGAAAAAACCTGTGGCAAAAACGTTTCTTTCTTATTTTTTTTCTTTTCCTAAAACAGACTTGAAAGTATTATACAGGGATTGGCATTCTTCCCGGTCACTGGTAACAATAGCAATATGTGTCCAGGGACACAGAATGTTGGTTTCTAACAGACTACTTCCAAAAACAGTTTGAGAAAAAAACTGTCTGATTTTAAGTCTCTAGAGGTCTGTAATAGTTTTTACATTTTTCAGGCAGTGTAAAGTTTTTTGATAAGGCCATTTTAGGTGGCTCACTTTCTCATTAAGATATATATATAGAACCACTTTTTGTAGATTAGTATAAGAAAAATATTTACCC
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Task1_train_13656
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A variant was discovered in gene CELF2, CELF2-AS1 (CUGBP Elav-like family member 2| CELF2 antisense RNA 1), Chromosome 10. Please indicate if this mutation results in a known disease or if it's non-harmful.
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Pathogenic; Developmental and epileptic encephalopathy 97
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TAATCAGGCCAAAGAGAATGTTTTGGCTTCTAAAACTCTAATCCTAAGGTCTAATTTGTGCTATCACCCAGGAAGGTCTGAAGGCATGGTTAAAGGACTCCGCATGTCAGCCACTTACAGTCACCACGTTACCCTAGCAGCAAGGCTGTCAGTCGGGACCCATTCGGCGGCTGCTGTGGCAACTGTATAAACCCGTGTGACAGTTCAGTAGAGAGGGATATGCAAATTAAATCATTATGGGGGGCGGGGGGGTGTGTCTGAGCAGGAGCCTACTTTAGGGAGGCTTCCCTACATGATTTACAAGGCTTTGAGGCTGACTTTTGTGTTTTTCGTAGCTAAACAATATTCTAGATTTGGAAGGGAATTCTGCTTCATGATTTGATTTGAGAAAATACTTCCTTGAAAACAGATTGTTTATCAGCCTACAGCCTCCTTAACCATGTGCTCATACTGATGTAAACCATAGCTGTTAGTGTCAGCAGACAATTCTTGAGCATGATGGACTGGTTTCCATTTTTGTGGAACGCTATAGCACCCAGTTTGCTTGGTGAGCCAGCCGCATTTCTTAGGGCTGCCAGTCATAAGGTAGTGCCCCGTTCCTTCCTAGTTCTTAGCCAGGTTTTGTTATCCATCTCACCTTTGTCCATTTCCATTCTGTAACTATCTTGCTGTTCCTTGATAAAGACCCAGAGGGAAAGGAAAGTCAGAGCAAAAATCTTGGATCCCAGATCACATTTATTGGGAATGAGACTTAATAAAAATGTAAACAGCCACTTCTTTGCAATCCAGCCTACCTCTGAAAAGCTGCCCAGCGTTATGCCGCATGCCCATTTTTATCAGCCGAGAACTGGGCAGAAAAGTCATGTCCTCTTCTTCCTCCTCTAGTTTGTAAAGGAATTTTCTCTTTAGCTTTAATAGCAGATGGATAGAGGTGCTTAGTATAGAACCTTCCGAACAGCTGACGTTTAGACCTAAATGTAAATCAGGACCATAGCTTCCTGTCACCACTCGGATCAGCACCCTTTACAGCCTTGCTATACCTCTGCTGCTGCCTCCCCCAGTGCTGGAACAGACTCTGGGACCAAGATCCTCTTGTCACTGGGTCTTTGCAGTTCTTTTTCAAAAGCTTGCCTTCCCTGCTGTTTATGGTGGAGGTCGTTGCTACAGAGTAAGAGATGGGGAATTCTCTTCAGATGATTAAGTTCTAAGCCGTTGACTATGTATCCCCCAGACTTTGGGAGATGCCAGGGAGCAATTTCCTTTCTGCTGAATTTACTGGAGCTTTGGAAATGGAAAGTGAGATAAGGAGAAAGGCCCAGCACTTCCCTAGTCTCCTTGGTATTAACTCCAAATGGGTAAAAATCAAGTATGAGTGAGTTATTCTAGAGTTTATTCGCTAATTGACCCATCCTCCAGCTAAACAGGTGTAGGCTCTGTGTGACAGACGATGGAGAGCTCGAGTGACAGGCTGGGGCTTGGCAGTATCTGCTGTTCTCCAGCCCTTCCCTTCCCGAGCCTGCCTGTTGGCCTCACCTGGCTGGGACACGTGAGCCCCTAGGGGCCCCCACAGCCCTGAAATATTTACACCACTGCTTGTATGAGTAGCATGTATGGACCTGGGGTTCTTTTGGAGAGATACTAAAGGACTTGAAACACAATGATTTGAGCGAGTTCAGTAAGTGGAACTGAATTCAGCCAAACAATTGAGTCTGAGGTTTCAGTGTTGTGGGGAGGGGTGTGTGCTCCATGATGCCACATTTCCAGTCCAGCCAGCTGCTCCACAGCTGCTCAGTGGGCACGCCCCATCATCCACTCACGGTGGACTCACGATCAGTTCCGCAGAGCTGTGCTGGGCCCGTGGGGCTGGCACCTCATGCTGGCTCTTCAGCCTTCCCCAGAGCTCCAGCCCCCTTTTCTGTTTTCTGCTGGGCTTCCTCTCCAGGCTGACTCCCTCTCTCGGTATTTTCCAGGTTTTGTTAGCTACGACAATCCAGTCTCTGCACAAGCTGCTATCCAAGCTATGAATGGCTTTCAGATCGGCATGAAACGCTTGAAGGTGCAGCTGAAGCGTTCCAAAAACGACAGCAAACCTTACTGATCCTAACCCCAGAGGCTCCCTGCTCTCATTTTAGCTTTCTTAGGGTAAGTCCCACGAGCCAGCCTGTCTCAACAGGGAAGGCAGAGGAGGACCACATTGCCAACTTTTACCAAGAGAGACGGTTATTTTTACAATAAGGCCTCCATGTCCCCACCCACTTCCCCTACCCAGTTTGCCATAATTAAAACTTGGGCTACTTTGTTTCTATTGAGTAATTCCTCCTCCAGTTGTGCCACTGTATTCTCCTTTGTTTTGCGATTTGAATCTCCTTTTACCTTTTTTTTTAATTTTTTTCATTTTTGCTTTTTTTTAAAGAGAAGCATATACACAAATAAATGGCATCTTGAGAATTTAAAAGGCAAACAAACAAACGCTAATGTGCAATTCTAACTCTGAAACCACTGGTGCCCCGAGAGCACTGCCTGGAGAATTCACCCCTCCTTGCCCGGCGCCCGCCCCCGGAGGGAGGGCCCGGTGCTTAGAGGTTAACTTGGTGGCCTAGGAGAGGGAGAAGCCAGGAGAAGCACTTACTCCAACCACACGTCTTTCCACTACATCGGCTTGTTTTACTAAGTAGGATTTTATTTTAGGGTTCAAAGAAACATGACATTTATTGGTCAAAATATTACACTGGTTGTCTATTTTGTTATTGTTTTATTTTAGTTTTTAGAAAGGATTAATGTACAAAAAGATTTAGAGATCTGTTTCTTAAAGCTACAGGGTTTAAAAAATAAAAATGAGTGAAAATACTTGATGTTTCTTGAAAGATAAATTTAATAATAATAAATAAATACATAAATACATAAATAAAAAAGAAAGCCACAGGCCTGTAAATTTTATTTGTAAAAAAGCATTTCTATTTTTATACAAAATTTTTACTGCCTCAGAAATAATGGAAGTTATTTATTGCCTATTGTTAACTTATTGGGTACCTAAAGAGCAGTTCTCTGTCTAGCTAGAACCTTCTGAAGTAGTCTCTAGAGGAATTGTTCTAGGAATGGGCTTTTTTTCACCGTTGAACCCTAGACCTGAAGTTCATGCTTTATCCTCTCGTTGTTTGTATCTGTCTGATTATTTTGTTTGTAACTTCCATTATCTAGTTTACAGTTCAGTCGTCTGACTTTCCCCGTATGTCACATTTGTTGAAACTGGACCTTCTCCCCCTGTCCCTCACCCCAAAACACCCGGAATCCATCCCGTTTCGCTCTCTCCAGATGGATTCTCTTGGGGTTTCATTGTGCTGTGGATAAGGAGTGTAAGAAATGCAAATTATGTGAATGGCTCGGAGACTCCCTAATGACCTAAGATTTGCATTAGTTTTTCTCCTGCACCCTTAAAAGTGATTTTGTTGCCGCTGCATAGATTCTGTGTAACTTTTTACTCTTCCTTGTTTTTTCCCTAGACATCTTCATGCCCGTTAGTTCATCGTTTGCCTAGCATGTCCCTGTGGCGTCTCAAAAAAAAGTTTCATCGTCCCGTCATTGTTTCTGATGTCTTTCTGACCTCACATCATATTTGGTTCTCCTACTGACCTTTGATCTAGTTTGACCTTTGAAATTTGCATGTGACCTCATCTAGCTATGAATTCTGGGAAGTCAATGTGAAAAACATTGCTGCATTCATGCAAGACTGAAATTTATTATTAGACAAATTCATTATAGAAAAAACCTGTGGCAAAAACGTTTCTTTCTTATTTTTTTTCTTTTCCTAAAACAGACTTGAAAGTATTATACAGGGATTGGCATTCTTCCCGGTCACTGGTAACAATAGCAATATGTGTCCAGGGACACAGAATGTTGGTTTCTAACAGACTACTTCCAAAAACAGTTTGAGAAAAAAACTGTCTGATTTTAAGTCTCTAGAGGTCTGTAATAGTTTTTACATTTTTCAGGCAGTGTAAAGTTTTTTGATAAGGCCATTTTAGGTGGCTCACTTTCTCATTAAGATATATATATAGAACCACTTTTTGTAGATTAGTATAAGAAAAATATTTACCCT
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TAATCAGGCCAAAGAGAATGTTTTGGCTTCTAAAACTCTAATCCTAAGGTCTAATTTGTGCTATCACCCAGGAAGGTCTGAAGGCATGGTTAAAGGACTCCGCATGTCAGCCACTTACAGTCACCACGTTACCCTAGCAGCAAGGCTGTCAGTCGGGACCCATTCGGCGGCTGCTGTGGCAACTGTATAAACCCGTGTGACAGTTCAGTAGAGAGGGATATGCAAATTAAATCATTATGGGGGGCGGGGGGGTGTGTCTGAGCAGGAGCCTACTTTAGGGAGGCTTCCCTACATGATTTACAAGGCTTTGAGGCTGACTTTTGTGTTTTTCGTAGCTAAACAATATTCTAGATTTGGAAGGGAATTCTGCTTCATGATTTGATTTGAGAAAATACTTCCTTGAAAACAGATTGTTTATCAGCCTACAGCCTCCTTAACCATGTGCTCATACTGATGTAAACCATAGCTGTTAGTGTCAGCAGACAATTCTTGAGCATGATGGACTGGTTTCCATTTTTGTGGAACGCTATAGCACCCAGTTTGCTTGGTGAGCCAGCCGCATTTCTTAGGGCTGCCAGTCATAAGGTAGTGCCCCGTTCCTTCCTAGTTCTTAGCCAGGTTTTGTTATCCATCTCACCTTTGTCCATTTCCATTCTGTAACTATCTTGCTGTTCCTTGATAAAGACCCAGAGGGAAAGGAAAGTCAGAGCAAAAATCTTGGATCCCAGATCACATTTATTGGGAATGAGACTTAATAAAAATGTAAACAGCCACTTCTTTGCAATCCAGCCTACCTCTGAAAAGCTGCCCAGCGTTATGCCGCATGCCCATTTTTATCAGCCGAGAACTGGGCAGAAAAGTCATGTCCTCTTCTTCCTCCTCTAGTTTGTAAAGGAATTTTCTCTTTAGCTTTAATAGCAGATGGATAGAGGTGCTTAGTATAGAACCTTCCGAACAGCTGACGTTTAGACCTAAATGTAAATCAGGACCATAGCTTCCTGTCACCACTCGGATCAGCACCCTTTACAGCCTTGCTATACCTCTGCTGCTGCCTCCCCCAGTGCTGGAACAGACTCTGGGACCAAGATCCTCTTGTCACTGGGTCTTTGCAGTTCTTTTTCAAAAGCTTGCCTTCCCTGCTGTTTATGGTGGAGGTCGTTGCTACAGAGTAAGAGATGGGGAATTCTCTTCAGATGATTAAGTTCTAAGCCGTTGACTATGTATCCCCCAGACTTTGGGAGATGCCAGGGAGCAATTTCCTTTCTGCTGAATTTACTGGAGCTTTGGAAATGGAAAGTGAGATAAGGAGAAAGGCCCAGCACTTCCCTAGTCTCCTTGGTATTAACTCCAAATGGGTAAAAATCAAGTATGAGTGAGTTATTCTAGAGTTTATTCGCTAATTGACCCATCCTCCAGCTAAACAGGTGTAGGCTCTGTGTGACAGACGATGGAGAGCTCGAGTGACAGGCTGGGGCTTGGCAGTATCTGCTGTTCTCCAGCCCTTCCCTTCCCGAGCCTGCCTGTTGGCCTCACCTGGCTGGGACACGTGAGCCCCTAGGGGCCCCCACAGCCCTGAAATATTTACACCACTGCTTGTATGAGTAGCATGTATGGACCTGGGGTTCTTTTGGAGAGATACTAAAGGACTTGAAACACAATGATTTGAGCGAGTTCAGTAAGTGGAACTGAATTCAGCCAAACAATTGAGTCTGAGGTTTCAGTGTTGTGGGGAGGGGTGTGTGCTCCATGATGCCACATTTCCAGTCCAGCCAGCTGCTCCACAGCTGCTCAGTGGGCACGCCCCATCATCCACTCACGGTGGACTCACGATCAGTTCCGCAGAGCTGTGCTGGGCCCGTGGGGCTGGCACCTCATGCTGGCTCTTCAGCCTTCCCCAGAGCTCCAGCCCCCTTTTCTGTTTTCTGCTGGGCTTCCTCTCCAGGCTGACTCCCTCTCTCGGTATTTTCCAGGTTTTGTTAGCTACGACAATCCAGTCTCTGCACAAGCTGCTATCCAAGCTATGAATGGCTTTCAGATCGGCATGAAACACTTGAAGGTGCAGCTGAAGCGTTCCAAAAACGACAGCAAACCTTACTGATCCTAACCCCAGAGGCTCCCTGCTCTCATTTTAGCTTTCTTAGGGTAAGTCCCACGAGCCAGCCTGTCTCAACAGGGAAGGCAGAGGAGGACCACATTGCCAACTTTTACCAAGAGAGACGGTTATTTTTACAATAAGGCCTCCATGTCCCCACCCACTTCCCCTACCCAGTTTGCCATAATTAAAACTTGGGCTACTTTGTTTCTATTGAGTAATTCCTCCTCCAGTTGTGCCACTGTATTCTCCTTTGTTTTGCGATTTGAATCTCCTTTTACCTTTTTTTTTAATTTTTTTCATTTTTGCTTTTTTTTAAAGAGAAGCATATACACAAATAAATGGCATCTTGAGAATTTAAAAGGCAAACAAACAAACGCTAATGTGCAATTCTAACTCTGAAACCACTGGTGCCCCGAGAGCACTGCCTGGAGAATTCACCCCTCCTTGCCCGGCGCCCGCCCCCGGAGGGAGGGCCCGGTGCTTAGAGGTTAACTTGGTGGCCTAGGAGAGGGAGAAGCCAGGAGAAGCACTTACTCCAACCACACGTCTTTCCACTACATCGGCTTGTTTTACTAAGTAGGATTTTATTTTAGGGTTCAAAGAAACATGACATTTATTGGTCAAAATATTACACTGGTTGTCTATTTTGTTATTGTTTTATTTTAGTTTTTAGAAAGGATTAATGTACAAAAAGATTTAGAGATCTGTTTCTTAAAGCTACAGGGTTTAAAAAATAAAAATGAGTGAAAATACTTGATGTTTCTTGAAAGATAAATTTAATAATAATAAATAAATACATAAATACATAAATAAAAAAGAAAGCCACAGGCCTGTAAATTTTATTTGTAAAAAAGCATTTCTATTTTTATACAAAATTTTTACTGCCTCAGAAATAATGGAAGTTATTTATTGCCTATTGTTAACTTATTGGGTACCTAAAGAGCAGTTCTCTGTCTAGCTAGAACCTTCTGAAGTAGTCTCTAGAGGAATTGTTCTAGGAATGGGCTTTTTTTCACCGTTGAACCCTAGACCTGAAGTTCATGCTTTATCCTCTCGTTGTTTGTATCTGTCTGATTATTTTGTTTGTAACTTCCATTATCTAGTTTACAGTTCAGTCGTCTGACTTTCCCCGTATGTCACATTTGTTGAAACTGGACCTTCTCCCCCTGTCCCTCACCCCAAAACACCCGGAATCCATCCCGTTTCGCTCTCTCCAGATGGATTCTCTTGGGGTTTCATTGTGCTGTGGATAAGGAGTGTAAGAAATGCAAATTATGTGAATGGCTCGGAGACTCCCTAATGACCTAAGATTTGCATTAGTTTTTCTCCTGCACCCTTAAAAGTGATTTTGTTGCCGCTGCATAGATTCTGTGTAACTTTTTACTCTTCCTTGTTTTTTCCCTAGACATCTTCATGCCCGTTAGTTCATCGTTTGCCTAGCATGTCCCTGTGGCGTCTCAAAAAAAAGTTTCATCGTCCCGTCATTGTTTCTGATGTCTTTCTGACCTCACATCATATTTGGTTCTCCTACTGACCTTTGATCTAGTTTGACCTTTGAAATTTGCATGTGACCTCATCTAGCTATGAATTCTGGGAAGTCAATGTGAAAAACATTGCTGCATTCATGCAAGACTGAAATTTATTATTAGACAAATTCATTATAGAAAAAACCTGTGGCAAAAACGTTTCTTTCTTATTTTTTTTCTTTTCCTAAAACAGACTTGAAAGTATTATACAGGGATTGGCATTCTTCCCGGTCACTGGTAACAATAGCAATATGTGTCCAGGGACACAGAATGTTGGTTTCTAACAGACTACTTCCAAAAACAGTTTGAGAAAAAAACTGTCTGATTTTAAGTCTCTAGAGGTCTGTAATAGTTTTTACATTTTTCAGGCAGTGTAAAGTTTTTTGATAAGGCCATTTTAGGTGGCTCACTTTCTCATTAAGATATATATATAGAACCACTTTTTGTAGATTAGTATAAGAAAAATATTTACCCT
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Task1_train_13657
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A mutation in CELF2, CELF2-AS1 (CUGBP Elav-like family member 2| CELF2 antisense RNA 1), located on Chromosome 10, is being studied. Determine whether it’s pathogenic or benign, and specify the linked disease.
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Pathogenic; Developmental and epileptic encephalopathy 97
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TCCTAAGGTCTAATTTGTGCTATCACCCAGGAAGGTCTGAAGGCATGGTTAAAGGACTCCGCATGTCAGCCACTTACAGTCACCACGTTACCCTAGCAGCAAGGCTGTCAGTCGGGACCCATTCGGCGGCTGCTGTGGCAACTGTATAAACCCGTGTGACAGTTCAGTAGAGAGGGATATGCAAATTAAATCATTATGGGGGGCGGGGGGGTGTGTCTGAGCAGGAGCCTACTTTAGGGAGGCTTCCCTACATGATTTACAAGGCTTTGAGGCTGACTTTTGTGTTTTTCGTAGCTAAACAATATTCTAGATTTGGAAGGGAATTCTGCTTCATGATTTGATTTGAGAAAATACTTCCTTGAAAACAGATTGTTTATCAGCCTACAGCCTCCTTAACCATGTGCTCATACTGATGTAAACCATAGCTGTTAGTGTCAGCAGACAATTCTTGAGCATGATGGACTGGTTTCCATTTTTGTGGAACGCTATAGCACCCAGTTTGCTTGGTGAGCCAGCCGCATTTCTTAGGGCTGCCAGTCATAAGGTAGTGCCCCGTTCCTTCCTAGTTCTTAGCCAGGTTTTGTTATCCATCTCACCTTTGTCCATTTCCATTCTGTAACTATCTTGCTGTTCCTTGATAAAGACCCAGAGGGAAAGGAAAGTCAGAGCAAAAATCTTGGATCCCAGATCACATTTATTGGGAATGAGACTTAATAAAAATGTAAACAGCCACTTCTTTGCAATCCAGCCTACCTCTGAAAAGCTGCCCAGCGTTATGCCGCATGCCCATTTTTATCAGCCGAGAACTGGGCAGAAAAGTCATGTCCTCTTCTTCCTCCTCTAGTTTGTAAAGGAATTTTCTCTTTAGCTTTAATAGCAGATGGATAGAGGTGCTTAGTATAGAACCTTCCGAACAGCTGACGTTTAGACCTAAATGTAAATCAGGACCATAGCTTCCTGTCACCACTCGGATCAGCACCCTTTACAGCCTTGCTATACCTCTGCTGCTGCCTCCCCCAGTGCTGGAACAGACTCTGGGACCAAGATCCTCTTGTCACTGGGTCTTTGCAGTTCTTTTTCAAAAGCTTGCCTTCCCTGCTGTTTATGGTGGAGGTCGTTGCTACAGAGTAAGAGATGGGGAATTCTCTTCAGATGATTAAGTTCTAAGCCGTTGACTATGTATCCCCCAGACTTTGGGAGATGCCAGGGAGCAATTTCCTTTCTGCTGAATTTACTGGAGCTTTGGAAATGGAAAGTGAGATAAGGAGAAAGGCCCAGCACTTCCCTAGTCTCCTTGGTATTAACTCCAAATGGGTAAAAATCAAGTATGAGTGAGTTATTCTAGAGTTTATTCGCTAATTGACCCATCCTCCAGCTAAACAGGTGTAGGCTCTGTGTGACAGACGATGGAGAGCTCGAGTGACAGGCTGGGGCTTGGCAGTATCTGCTGTTCTCCAGCCCTTCCCTTCCCGAGCCTGCCTGTTGGCCTCACCTGGCTGGGACACGTGAGCCCCTAGGGGCCCCCACAGCCCTGAAATATTTACACCACTGCTTGTATGAGTAGCATGTATGGACCTGGGGTTCTTTTGGAGAGATACTAAAGGACTTGAAACACAATGATTTGAGCGAGTTCAGTAAGTGGAACTGAATTCAGCCAAACAATTGAGTCTGAGGTTTCAGTGTTGTGGGGAGGGGTGTGTGCTCCATGATGCCACATTTCCAGTCCAGCCAGCTGCTCCACAGCTGCTCAGTGGGCACGCCCCATCATCCACTCACGGTGGACTCACGATCAGTTCCGCAGAGCTGTGCTGGGCCCGTGGGGCTGGCACCTCATGCTGGCTCTTCAGCCTTCCCCAGAGCTCCAGCCCCCTTTTCTGTTTTCTGCTGGGCTTCCTCTCCAGGCTGACTCCCTCTCTCGGTATTTTCCAGGTTTTGTTAGCTACGACAATCCAGTCTCTGCACAAGCTGCTATCCAAGCTATGAATGGCTTTCAGATCGGCATGAAACGCTTGAAGGTGCAGCTGAAGCGTTCCAAAAACGACAGCAAACCTTACTGATCCTAACCCCAGAGGCTCCCTGCTCTCATTTTAGCTTTCTTAGGGTAAGTCCCACGAGCCAGCCTGTCTCAACAGGGAAGGCAGAGGAGGACCACATTGCCAACTTTTACCAAGAGAGACGGTTATTTTTACAATAAGGCCTCCATGTCCCCACCCACTTCCCCTACCCAGTTTGCCATAATTAAAACTTGGGCTACTTTGTTTCTATTGAGTAATTCCTCCTCCAGTTGTGCCACTGTATTCTCCTTTGTTTTGCGATTTGAATCTCCTTTTACCTTTTTTTTTAATTTTTTTCATTTTTGCTTTTTTTTAAAGAGAAGCATATACACAAATAAATGGCATCTTGAGAATTTAAAAGGCAAACAAACAAACGCTAATGTGCAATTCTAACTCTGAAACCACTGGTGCCCCGAGAGCACTGCCTGGAGAATTCACCCCTCCTTGCCCGGCGCCCGCCCCCGGAGGGAGGGCCCGGTGCTTAGAGGTTAACTTGGTGGCCTAGGAGAGGGAGAAGCCAGGAGAAGCACTTACTCCAACCACACGTCTTTCCACTACATCGGCTTGTTTTACTAAGTAGGATTTTATTTTAGGGTTCAAAGAAACATGACATTTATTGGTCAAAATATTACACTGGTTGTCTATTTTGTTATTGTTTTATTTTAGTTTTTAGAAAGGATTAATGTACAAAAAGATTTAGAGATCTGTTTCTTAAAGCTACAGGGTTTAAAAAATAAAAATGAGTGAAAATACTTGATGTTTCTTGAAAGATAAATTTAATAATAATAAATAAATACATAAATACATAAATAAAAAAGAAAGCCACAGGCCTGTAAATTTTATTTGTAAAAAAGCATTTCTATTTTTATACAAAATTTTTACTGCCTCAGAAATAATGGAAGTTATTTATTGCCTATTGTTAACTTATTGGGTACCTAAAGAGCAGTTCTCTGTCTAGCTAGAACCTTCTGAAGTAGTCTCTAGAGGAATTGTTCTAGGAATGGGCTTTTTTTCACCGTTGAACCCTAGACCTGAAGTTCATGCTTTATCCTCTCGTTGTTTGTATCTGTCTGATTATTTTGTTTGTAACTTCCATTATCTAGTTTACAGTTCAGTCGTCTGACTTTCCCCGTATGTCACATTTGTTGAAACTGGACCTTCTCCCCCTGTCCCTCACCCCAAAACACCCGGAATCCATCCCGTTTCGCTCTCTCCAGATGGATTCTCTTGGGGTTTCATTGTGCTGTGGATAAGGAGTGTAAGAAATGCAAATTATGTGAATGGCTCGGAGACTCCCTAATGACCTAAGATTTGCATTAGTTTTTCTCCTGCACCCTTAAAAGTGATTTTGTTGCCGCTGCATAGATTCTGTGTAACTTTTTACTCTTCCTTGTTTTTTCCCTAGACATCTTCATGCCCGTTAGTTCATCGTTTGCCTAGCATGTCCCTGTGGCGTCTCAAAAAAAAGTTTCATCGTCCCGTCATTGTTTCTGATGTCTTTCTGACCTCACATCATATTTGGTTCTCCTACTGACCTTTGATCTAGTTTGACCTTTGAAATTTGCATGTGACCTCATCTAGCTATGAATTCTGGGAAGTCAATGTGAAAAACATTGCTGCATTCATGCAAGACTGAAATTTATTATTAGACAAATTCATTATAGAAAAAACCTGTGGCAAAAACGTTTCTTTCTTATTTTTTTTCTTTTCCTAAAACAGACTTGAAAGTATTATACAGGGATTGGCATTCTTCCCGGTCACTGGTAACAATAGCAATATGTGTCCAGGGACACAGAATGTTGGTTTCTAACAGACTACTTCCAAAAACAGTTTGAGAAAAAAACTGTCTGATTTTAAGTCTCTAGAGGTCTGTAATAGTTTTTACATTTTTCAGGCAGTGTAAAGTTTTTTGATAAGGCCATTTTAGGTGGCTCACTTTCTCATTAAGATATATATATAGAACCACTTTTTGTAGATTAGTATAAGAAAAATATTTACCCTGTTTTGGGGCAAATGCTACCTATTTGTGTCACCTTTTGCTG
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TCCTAAGGTCTAATTTGTGCTATCACCCAGGAAGGTCTGAAGGCATGGTTAAAGGACTCCGCATGTCAGCCACTTACAGTCACCACGTTACCCTAGCAGCAAGGCTGTCAGTCGGGACCCATTCGGCGGCTGCTGTGGCAACTGTATAAACCCGTGTGACAGTTCAGTAGAGAGGGATATGCAAATTAAATCATTATGGGGGGCGGGGGGGTGTGTCTGAGCAGGAGCCTACTTTAGGGAGGCTTCCCTACATGATTTACAAGGCTTTGAGGCTGACTTTTGTGTTTTTCGTAGCTAAACAATATTCTAGATTTGGAAGGGAATTCTGCTTCATGATTTGATTTGAGAAAATACTTCCTTGAAAACAGATTGTTTATCAGCCTACAGCCTCCTTAACCATGTGCTCATACTGATGTAAACCATAGCTGTTAGTGTCAGCAGACAATTCTTGAGCATGATGGACTGGTTTCCATTTTTGTGGAACGCTATAGCACCCAGTTTGCTTGGTGAGCCAGCCGCATTTCTTAGGGCTGCCAGTCATAAGGTAGTGCCCCGTTCCTTCCTAGTTCTTAGCCAGGTTTTGTTATCCATCTCACCTTTGTCCATTTCCATTCTGTAACTATCTTGCTGTTCCTTGATAAAGACCCAGAGGGAAAGGAAAGTCAGAGCAAAAATCTTGGATCCCAGATCACATTTATTGGGAATGAGACTTAATAAAAATGTAAACAGCCACTTCTTTGCAATCCAGCCTACCTCTGAAAAGCTGCCCAGCGTTATGCCGCATGCCCATTTTTATCAGCCGAGAACTGGGCAGAAAAGTCATGTCCTCTTCTTCCTCCTCTAGTTTGTAAAGGAATTTTCTCTTTAGCTTTAATAGCAGATGGATAGAGGTGCTTAGTATAGAACCTTCCGAACAGCTGACGTTTAGACCTAAATGTAAATCAGGACCATAGCTTCCTGTCACCACTCGGATCAGCACCCTTTACAGCCTTGCTATACCTCTGCTGCTGCCTCCCCCAGTGCTGGAACAGACTCTGGGACCAAGATCCTCTTGTCACTGGGTCTTTGCAGTTCTTTTTCAAAAGCTTGCCTTCCCTGCTGTTTATGGTGGAGGTCGTTGCTACAGAGTAAGAGATGGGGAATTCTCTTCAGATGATTAAGTTCTAAGCCGTTGACTATGTATCCCCCAGACTTTGGGAGATGCCAGGGAGCAATTTCCTTTCTGCTGAATTTACTGGAGCTTTGGAAATGGAAAGTGAGATAAGGAGAAAGGCCCAGCACTTCCCTAGTCTCCTTGGTATTAACTCCAAATGGGTAAAAATCAAGTATGAGTGAGTTATTCTAGAGTTTATTCGCTAATTGACCCATCCTCCAGCTAAACAGGTGTAGGCTCTGTGTGACAGACGATGGAGAGCTCGAGTGACAGGCTGGGGCTTGGCAGTATCTGCTGTTCTCCAGCCCTTCCCTTCCCGAGCCTGCCTGTTGGCCTCACCTGGCTGGGACACGTGAGCCCCTAGGGGCCCCCACAGCCCTGAAATATTTACACCACTGCTTGTATGAGTAGCATGTATGGACCTGGGGTTCTTTTGGAGAGATACTAAAGGACTTGAAACACAATGATTTGAGCGAGTTCAGTAAGTGGAACTGAATTCAGCCAAACAATTGAGTCTGAGGTTTCAGTGTTGTGGGGAGGGGTGTGTGCTCCATGATGCCACATTTCCAGTCCAGCCAGCTGCTCCACAGCTGCTCAGTGGGCACGCCCCATCATCCACTCACGGTGGACTCACGATCAGTTCCGCAGAGCTGTGCTGGGCCCGTGGGGCTGGCACCTCATGCTGGCTCTTCAGCCTTCCCCAGAGCTCCAGCCCCCTTTTCTGTTTTCTGCTGGGCTTCCTCTCCAGGCTGACTCCCTCTCTCGGTATTTTCCAGGTTTTGTTAGCTACGACAATCCAGTCTCTGCACAAGCTGCTATCCAAGCTATGAATGGCTTTCAGATCGGCATGAAACGCTTGAAGGTGCAGCTGAAGCGTTCCAAAAACGACAGCAAATCTTACTGATCCTAACCCCAGAGGCTCCCTGCTCTCATTTTAGCTTTCTTAGGGTAAGTCCCACGAGCCAGCCTGTCTCAACAGGGAAGGCAGAGGAGGACCACATTGCCAACTTTTACCAAGAGAGACGGTTATTTTTACAATAAGGCCTCCATGTCCCCACCCACTTCCCCTACCCAGTTTGCCATAATTAAAACTTGGGCTACTTTGTTTCTATTGAGTAATTCCTCCTCCAGTTGTGCCACTGTATTCTCCTTTGTTTTGCGATTTGAATCTCCTTTTACCTTTTTTTTTAATTTTTTTCATTTTTGCTTTTTTTTAAAGAGAAGCATATACACAAATAAATGGCATCTTGAGAATTTAAAAGGCAAACAAACAAACGCTAATGTGCAATTCTAACTCTGAAACCACTGGTGCCCCGAGAGCACTGCCTGGAGAATTCACCCCTCCTTGCCCGGCGCCCGCCCCCGGAGGGAGGGCCCGGTGCTTAGAGGTTAACTTGGTGGCCTAGGAGAGGGAGAAGCCAGGAGAAGCACTTACTCCAACCACACGTCTTTCCACTACATCGGCTTGTTTTACTAAGTAGGATTTTATTTTAGGGTTCAAAGAAACATGACATTTATTGGTCAAAATATTACACTGGTTGTCTATTTTGTTATTGTTTTATTTTAGTTTTTAGAAAGGATTAATGTACAAAAAGATTTAGAGATCTGTTTCTTAAAGCTACAGGGTTTAAAAAATAAAAATGAGTGAAAATACTTGATGTTTCTTGAAAGATAAATTTAATAATAATAAATAAATACATAAATACATAAATAAAAAAGAAAGCCACAGGCCTGTAAATTTTATTTGTAAAAAAGCATTTCTATTTTTATACAAAATTTTTACTGCCTCAGAAATAATGGAAGTTATTTATTGCCTATTGTTAACTTATTGGGTACCTAAAGAGCAGTTCTCTGTCTAGCTAGAACCTTCTGAAGTAGTCTCTAGAGGAATTGTTCTAGGAATGGGCTTTTTTTCACCGTTGAACCCTAGACCTGAAGTTCATGCTTTATCCTCTCGTTGTTTGTATCTGTCTGATTATTTTGTTTGTAACTTCCATTATCTAGTTTACAGTTCAGTCGTCTGACTTTCCCCGTATGTCACATTTGTTGAAACTGGACCTTCTCCCCCTGTCCCTCACCCCAAAACACCCGGAATCCATCCCGTTTCGCTCTCTCCAGATGGATTCTCTTGGGGTTTCATTGTGCTGTGGATAAGGAGTGTAAGAAATGCAAATTATGTGAATGGCTCGGAGACTCCCTAATGACCTAAGATTTGCATTAGTTTTTCTCCTGCACCCTTAAAAGTGATTTTGTTGCCGCTGCATAGATTCTGTGTAACTTTTTACTCTTCCTTGTTTTTTCCCTAGACATCTTCATGCCCGTTAGTTCATCGTTTGCCTAGCATGTCCCTGTGGCGTCTCAAAAAAAAGTTTCATCGTCCCGTCATTGTTTCTGATGTCTTTCTGACCTCACATCATATTTGGTTCTCCTACTGACCTTTGATCTAGTTTGACCTTTGAAATTTGCATGTGACCTCATCTAGCTATGAATTCTGGGAAGTCAATGTGAAAAACATTGCTGCATTCATGCAAGACTGAAATTTATTATTAGACAAATTCATTATAGAAAAAACCTGTGGCAAAAACGTTTCTTTCTTATTTTTTTTCTTTTCCTAAAACAGACTTGAAAGTATTATACAGGGATTGGCATTCTTCCCGGTCACTGGTAACAATAGCAATATGTGTCCAGGGACACAGAATGTTGGTTTCTAACAGACTACTTCCAAAAACAGTTTGAGAAAAAAACTGTCTGATTTTAAGTCTCTAGAGGTCTGTAATAGTTTTTACATTTTTCAGGCAGTGTAAAGTTTTTTGATAAGGCCATTTTAGGTGGCTCACTTTCTCATTAAGATATATATATAGAACCACTTTTTGTAGATTAGTATAAGAAAAATATTTACCCTGTTTTGGGGCAAATGCTACCTATTTGTGTCACCTTTTGCTG
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Task1_train_13658
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The gene DHTKD1 (dehydrogenase E1 and transketolase domain containing 1) is located on Chromosome 10, where a mutation has occurred. What is the medical relevance of this mutation?
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Pathogenic; 2-aminoadipic 2-oxoadipic aciduria
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AACAGCAACAAAAATTAGCTGGGCGTGGTGGCAGGCGCCTGAAATCCCAGCTACTCGGGAGGCTGAGGCAGGGGAATTGCTTGAACCCGGGAGATGGAGGTTGCAGTGAGCCGAGATTGCCCTACTGCATTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAAAAAAAAAAAAAAAAAAAAAAGGAAAAAAAAGACAAGCCCTTGCAAAACCAGGTCCAAACTAGCAAGATGGGGAGGCCACCAAAGTGTGGACCTAAGGGGTCCCAGCTACAGTAGCTGTGCTGGATGACGCTCCTGTGCTTGCAGGGGGCACTTACATGTGCCTACATTATATAATCTATCATCCTGTGTGCTGAGTTCTATCTACAGCTAGACTGGGAACTAAGGGCAGAAACTGTGCCTTATTAATCTTTGTAACCCAGCAGAGTGCTTTATGAGTGTACTGGTTGAATGAGTAAGAAGGAGGATGTCTTGGGCTTGTATGTATAATATTCCTAGGAGTTTGGGGTATAGCTGCACAGCTTACTGGAACGAAGGATGACTAACCAGGTAAGGATGCAGACTCTCTCTCCTACCATACTGGCAAAGTTAAAAGTAAGCCACAGAAAAAAAATCATTTGGGAAACTCACTCAGAGACAGACCAACTAATCGTTCATGTCCAGTTTCTTTTGACTCTTATCCCTTTCTTCCCTGCTCCCTTTACCCTATTTCCTTCTTTCTCTCTTAATGTTTTTTGTTTGTTTGTGAGACAGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGGCACGATCTTGGCTCACTGCAACCTCTGCCTCCAGGGTTTAAGCGATTCTTCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCACCCGCCACCACACTCGGCTAATTTTTGTATTTTTAGTAGAGACGGGGTTTCACCATAGTAGCCATGATGGTCTCGAACTCCTGACTTCGTGATCCGCCCTCCTTGGCCTCCCAGAGGGCCTCCCAGAGTGTTGGGATTACAGGCATGAGCCACTGCAGCCTGTTTTGTTTTTTTTTTTTTGTTCGTTTGTTTGTTTGTTTTTGTTCTGTTTTTTTTGAGACGGAGTTTCGCTCTTGTTGCCCAGGCTGGAGTGCAATGGCGCCATCTCAACTCACCGCAACCTCCACCTCCCGGGTTCCAGCGATTTTCCTGTCTCAGCCTCCCGAGTAGCTGGGACCACAGGCACCCACCACTACGCCTGGCTAATTTTGTATTTTTAGTAGAGACGAGGTTTCTCCACGTTGGTAAGACTGGTCTCGAACCCCCGACCTCAGGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAACCACCGCGCCCGACCTAATTTTTGTATTTTTAGTAGAGATGGGTTTTCGCCATGTTGGACAGGTTGGTCTCAAACTCCTGACCTCAGATGATCCTCCCGCTGTGGCCCCCCAAAGTGTTAGGATTACAGGCGTGAGCCACCGCGCCCGGCCTCTGTTAATGTTTCTTAAGAAAACAAAAAAATTAGGGGTATTGATTTTGTAGCTGCGCTAAGTAACCTTTGCTTTTTGCGTCCCTTGGTCTCAGTCCTAGCCATTTCCTATCCACCCTGTGGCTAATTTGTCCTTTCTGTAACAGACACCCTAGACTGTGTCTATGCGGTTGGGCAGAGGCGTGATGGGTAAACACTCCTGGCGGGAGACTACAGGCGCTGCAGCTACATCCTGTTTCGTACTGGGAGCAGGTGCCGCCCCGCGGAACACTTACTTGCCCCGCCCTGCGGTGGAGCAGGGCGGTCTCAGCCGCCGGAACCGCCCTGGAAGCCCGCCCCAATCCTGGGCGTCGCTTCGCTGTGAGTGCCGCTGCCACGGATTGGCTTCCAGGGTCCGGCCCGTCGGCCAATCAGGCGCGGGGGCGTTGTCTGGGGGCGGGGCTCCGGCCGCCTCTGACGAGTCCCGGATTTACCAGGGCCGGTGGGATCCCCTCGGGCTCCCGCCTTAGCATGCTGGCCGGGACATCTGGTGAACATGGCCTCTGCTACTGCGGCAGCAGCACGACGGGGCCTCGGCCGGGCTCTCCCTCTCTTCTGGCGTGGCTACCAGACCGAGCGGGGCGTTTACGGCTACCGGCCGAGGAAGCCCGAGAGCCGCGAGCCCCAGGGCGCCCTGGAGCGCCCCCCAGGTCGGGGATGGGGCCCGGGCGGTGGGAGCGGGGGCTGGGACGCAGAAGCCTCCCCTGGCCGATTTGCGGTGGGGTGTCGGGGTCGGGGAACCGGCTGCCGGCCTGAACGCGCGGCCGGTGGGGAGGAGGGGGAGGTGAGGGGAGCAGAGGGTAGGTGTGGGTGCTCAGTGTTGGGGTCATCCCCCGTCCATCCTCTGTAACTGAGGATCTTTGAGGTCCACGCTTGGGTGGTCTTCCCATCTTGCTGGTCCGGACCTGGTTTCGGAAGGGCTTTTCTTTCCTTTGTTGGAAACGTGTGAGAAACTCTTTTTTTCTTTCTCTTTTTGTTTCCTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTGGCCCAGGCTGGAGTGCAGTGCTGCGACCACAGCTCCCTGCAGCCTCGAACTCCTGGGCTCAGGCTATCCTTCCACCTCAGCGTCCCGAGTAGCTGGGGACACAGAGGGATGACCACGCCCAGCTTTTTTTTTTTTTTTTTTTTTTTTTTCATTTTTAGTAGAGATGGGGTCCCACCATGTTGCCCAGGCTGGTCTTGAACTCTTGAGCTCAAGCTGATCCTGCAGCCTCGGCCTCCCAATGTGTTGGGATTACAGGCTGAGCCACTGCACCCAGCCTAGAAAACCAGCTCTTTAATGAGGCGGAGCTGTGGGAGAAGTAAAGTTTTAAGGTCTCCCAAGGATACATTTCCAGGACCATCTCTGAGGCTTCTTTTATGTGAGCAGGTGGGGGGGTCCAAGACTGCATTGCTTGGGAGAAGTGGGCAGTTAGTTCCAGTCTTGGAAGACAGCATGATATTTATTATGTATTTGTCTCCTTGTAGCTAGTCTGTTACTTTAATTTCAGAGTTTAACTCTTAACTCTGCTGAATTTGGAACTATGTGCTGGTGGGGTTTCTTTCTTTTCCTTTTAGCCACTCTATTGACACCTTGATATGTGCTGGTGGTTTTAATGAATTAACAGTCATGAATATCAGCTTTTGGAACTTCTGTTGCATGCTCATTTGCGAGACTAATTTTGAGTATTTGGTTTACGCTCCAAAATTATTGTATCATTATTTATCCTCACGGAGTAGAAGATAAGTACAGATTGCTTATTAGAGGAAAATCATTTGGCATCTTTGATCTGATCATTAGATTAATGTTGAAGATCCCCTTCGGCATCTGGGCACCTGACCTTGGAATGTTCCATCAATCACACACTAGAACTTCAATATTTTGCTCTTCACTTCGGAGGGCATTTAAAATAAACCTCATATCTCTGTCTCTCTCTCTTTTTTTAATCCTAAAATGGAGTCTGGCTTTGTCGCCCAGGCTGGAGTGCAGTGGCACGATCTTGGCTCACTGCAACCTCTGTCTTCTGGGTTCAAGCGATTGTCCTGCCCCAGTGTTCCGAGTAGCTGGGATTACAGGCACCTGCCACCATGCCCAGCTAATTTTTGTATTTTTAGTAGAGATGGGGTTTCACCATGTTGGCCAGGCTGGTCTTGAACTCCCGACCTGAAGTGATCCACTGGCCTTGGCCTCCTAAAGTGCTGGGATTACAGGCATGAGCCACCGTGCCTGGCCAAGAGGGAACCTCCTTTTTGCAGAGCCGAATTCCCCTTCCTGTCTACTTGCTCATTAGGGAGCTCCAACTTGACCTCATCTTTCTTCTTGGGCCTTCCTGAAAGTGACAAGATACAATGAACATACGCTCCTGAGCTACAGGCTTCAAGGGCATGTAGTCTGCCTCAGTCCTGTCCTACAGGACAAAAACCAAATGTTTTGTCCTGTAGCATAACACTGCCCATCAGCTTTCTAGGTGGAAATACCTGTGTCCTTGGTACCCATTGCCTGGCTGCTAATCCAATGCCATATAT
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AACAGCAACAAAAATTAGCTGGGCGTGGTGGCAGGCGCCTGAAATCCCAGCTACTCGGGAGGCTGAGGCAGGGGAATTGCTTGAACCCGGGAGATGGAGGTTGCAGTGAGCCGAGATTGCCCTACTGCATTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAAAAAAAAAAAAAAAAAAAAAAGGAAAAAAAAGACAAGCCCTTGCAAAACCAGGTCCAAACTAGCAAGATGGGGAGGCCACCAAAGTGTGGACCTAAGGGGTCCCAGCTACAGTAGCTGTGCTGGATGACGCTCCTGTGCTTGCAGGGGGCACTTACATGTGCCTACATTATATAATCTATCATCCTGTGTGCTGAGTTCTATCTACAGCTAGACTGGGAACTAAGGGCAGAAACTGTGCCTTATTAATCTTTGTAACCCAGCAGAGTGCTTTATGAGTGTACTGGTTGAATGAGTAAGAAGGAGGATGTCTTGGGCTTGTATGTATAATATTCCTAGGAGTTTGGGGTATAGCTGCACAGCTTACTGGAACGAAGGATGACTAACCAGGTAAGGATGCAGACTCTCTCTCCTACCATACTGGCAAAGTTAAAAGTAAGCCACAGAAAAAAAATCATTTGGGAAACTCACTCAGAGACAGACCAACTAATCGTTCATGTCCAGTTTCTTTTGACTCTTATCCCTTTCTTCCCTGCTCCCTTTACCCTATTTCCTTCTTTCTCTCTTAATGTTTTTTGTTTGTTTGTGAGACAGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGGCACGATCTTGGCTCACTGCAACCTCTGCCTCCAGGGTTTAAGCGATTCTTCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCACCCGCCACCACACTCGGCTAATTTTTGTATTTTTAGTAGAGACGGGGTTTCACCATAGTAGCCATGATGGTCTCGAACTCCTGACTTCGTGATCCGCCCTCCTTGGCCTCCCAGAGGGCCTCCCAGAGTGTTGGGATTACAGGCATGAGCCACTGCAGCCTGTTTTGTTTTTTTTTTTTTGTTCGTTTGTTTGTTTGTTTTTGTTCTGTTTTTTTTGAGACGGAGTTTCGCTCTTGTTGCCCAGGCTGGAGTGCAATGGCGCCATCTCAACTCACCGCAACCTCCACCTCCCGGGTTCCAGCGATTTTCCTGTCTCAGCCTCCCGAGTAGCTGGGACCACAGGCACCCACCACTACGCCTGGCTAATTTTGTATTTTTAGTAGAGACGAGGTTTCTCCACGTTGGTAAGACTGGTCTCGAACCCCCGACCTCAGGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAACCACCGCGCCCGACCTAATTTTTGTATTTTTAGTAGAGATGGGTTTTCGCCATGTTGGACAGGTTGGTCTCAAACTCCTGACCTCAGATGATCCTCCCGCTGTGGCCCCCCAAAGTGTTAGGATTACAGGCGTGAGCCACCGCGCCCGGCCTCTGTTAATGTTTCTTAAGAAAACAAAAAAATTAGGGGTATTGATTTTGTAGCTGCGCTAAGTAACCTTTGCTTTTTGCGTCCCTTGGTCTCAGTCCTAGCCATTTCCTATCCACCCTGTGGCTAATTTGTCCTTTCTGTAACAGACACCCTAGACTGTGTCTATGCGGTTGGGCAGAGGCGTGATGGGTAAACACTCCTGGCGGGAGACTACAGGCGCTGCAGCTACATCCTGTTTCGTACTGGGAGCAGGTGCCGCCCCGCGGAACACTTACTTGCCCCGCCCTGCGGTGGAGCAGGGCGGTCTCAGCCGCCGGAACCGCCCTGGAAGCCCGCCCCAATCCTGGGCGTCGCTTCGCTGTGAGTGCCGCTGCCACGGATTGGCTTCCAGGGTCCGGCCCGTCGGCCAATCAGGCGCGGGGGCGTTGTCTGGGGGCGGGGCTCCGGCCGCCTCTGACGAGTCCCGGATTTACCAGGGCCGGTGGGATCCCCTCGGGCTCCCGCCTTAGCATGCTGGCCGGGACATCTGGTGAACGTGGCCTCTGCTACTGCGGCAGCAGCACGACGGGGCCTCGGCCGGGCTCTCCCTCTCTTCTGGCGTGGCTACCAGACCGAGCGGGGCGTTTACGGCTACCGGCCGAGGAAGCCCGAGAGCCGCGAGCCCCAGGGCGCCCTGGAGCGCCCCCCAGGTCGGGGATGGGGCCCGGGCGGTGGGAGCGGGGGCTGGGACGCAGAAGCCTCCCCTGGCCGATTTGCGGTGGGGTGTCGGGGTCGGGGAACCGGCTGCCGGCCTGAACGCGCGGCCGGTGGGGAGGAGGGGGAGGTGAGGGGAGCAGAGGGTAGGTGTGGGTGCTCAGTGTTGGGGTCATCCCCCGTCCATCCTCTGTAACTGAGGATCTTTGAGGTCCACGCTTGGGTGGTCTTCCCATCTTGCTGGTCCGGACCTGGTTTCGGAAGGGCTTTTCTTTCCTTTGTTGGAAACGTGTGAGAAACTCTTTTTTTCTTTCTCTTTTTGTTTCCTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTGGCCCAGGCTGGAGTGCAGTGCTGCGACCACAGCTCCCTGCAGCCTCGAACTCCTGGGCTCAGGCTATCCTTCCACCTCAGCGTCCCGAGTAGCTGGGGACACAGAGGGATGACCACGCCCAGCTTTTTTTTTTTTTTTTTTTTTTTTTTCATTTTTAGTAGAGATGGGGTCCCACCATGTTGCCCAGGCTGGTCTTGAACTCTTGAGCTCAAGCTGATCCTGCAGCCTCGGCCTCCCAATGTGTTGGGATTACAGGCTGAGCCACTGCACCCAGCCTAGAAAACCAGCTCTTTAATGAGGCGGAGCTGTGGGAGAAGTAAAGTTTTAAGGTCTCCCAAGGATACATTTCCAGGACCATCTCTGAGGCTTCTTTTATGTGAGCAGGTGGGGGGGTCCAAGACTGCATTGCTTGGGAGAAGTGGGCAGTTAGTTCCAGTCTTGGAAGACAGCATGATATTTATTATGTATTTGTCTCCTTGTAGCTAGTCTGTTACTTTAATTTCAGAGTTTAACTCTTAACTCTGCTGAATTTGGAACTATGTGCTGGTGGGGTTTCTTTCTTTTCCTTTTAGCCACTCTATTGACACCTTGATATGTGCTGGTGGTTTTAATGAATTAACAGTCATGAATATCAGCTTTTGGAACTTCTGTTGCATGCTCATTTGCGAGACTAATTTTGAGTATTTGGTTTACGCTCCAAAATTATTGTATCATTATTTATCCTCACGGAGTAGAAGATAAGTACAGATTGCTTATTAGAGGAAAATCATTTGGCATCTTTGATCTGATCATTAGATTAATGTTGAAGATCCCCTTCGGCATCTGGGCACCTGACCTTGGAATGTTCCATCAATCACACACTAGAACTTCAATATTTTGCTCTTCACTTCGGAGGGCATTTAAAATAAACCTCATATCTCTGTCTCTCTCTCTTTTTTTAATCCTAAAATGGAGTCTGGCTTTGTCGCCCAGGCTGGAGTGCAGTGGCACGATCTTGGCTCACTGCAACCTCTGTCTTCTGGGTTCAAGCGATTGTCCTGCCCCAGTGTTCCGAGTAGCTGGGATTACAGGCACCTGCCACCATGCCCAGCTAATTTTTGTATTTTTAGTAGAGATGGGGTTTCACCATGTTGGCCAGGCTGGTCTTGAACTCCCGACCTGAAGTGATCCACTGGCCTTGGCCTCCTAAAGTGCTGGGATTACAGGCATGAGCCACCGTGCCTGGCCAAGAGGGAACCTCCTTTTTGCAGAGCCGAATTCCCCTTCCTGTCTACTTGCTCATTAGGGAGCTCCAACTTGACCTCATCTTTCTTCTTGGGCCTTCCTGAAAGTGACAAGATACAATGAACATACGCTCCTGAGCTACAGGCTTCAAGGGCATGTAGTCTGCCTCAGTCCTGTCCTACAGGACAAAAACCAAATGTTTTGTCCTGTAGCATAACACTGCCCATCAGCTTTCTAGGTGGAAATACCTGTGTCCTTGGTACCCATTGCCTGGCTGCTAATCCAATGCCATATAT
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Task1_train_13659
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The gene DHTKD1 (dehydrogenase E1 and transketolase domain containing 1) on Chromosome 10 carries this variant. Does this mutation lead to a specific disease, or is it non-pathogenic?
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Pathogenic; Charcot-Marie-Tooth disease type 2A2
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AACAGCAACAAAAATTAGCTGGGCGTGGTGGCAGGCGCCTGAAATCCCAGCTACTCGGGAGGCTGAGGCAGGGGAATTGCTTGAACCCGGGAGATGGAGGTTGCAGTGAGCCGAGATTGCCCTACTGCATTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAAAAAAAAAAAAAAAAAAAAAAGGAAAAAAAAGACAAGCCCTTGCAAAACCAGGTCCAAACTAGCAAGATGGGGAGGCCACCAAAGTGTGGACCTAAGGGGTCCCAGCTACAGTAGCTGTGCTGGATGACGCTCCTGTGCTTGCAGGGGGCACTTACATGTGCCTACATTATATAATCTATCATCCTGTGTGCTGAGTTCTATCTACAGCTAGACTGGGAACTAAGGGCAGAAACTGTGCCTTATTAATCTTTGTAACCCAGCAGAGTGCTTTATGAGTGTACTGGTTGAATGAGTAAGAAGGAGGATGTCTTGGGCTTGTATGTATAATATTCCTAGGAGTTTGGGGTATAGCTGCACAGCTTACTGGAACGAAGGATGACTAACCAGGTAAGGATGCAGACTCTCTCTCCTACCATACTGGCAAAGTTAAAAGTAAGCCACAGAAAAAAAATCATTTGGGAAACTCACTCAGAGACAGACCAACTAATCGTTCATGTCCAGTTTCTTTTGACTCTTATCCCTTTCTTCCCTGCTCCCTTTACCCTATTTCCTTCTTTCTCTCTTAATGTTTTTTGTTTGTTTGTGAGACAGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGGCACGATCTTGGCTCACTGCAACCTCTGCCTCCAGGGTTTAAGCGATTCTTCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCACCCGCCACCACACTCGGCTAATTTTTGTATTTTTAGTAGAGACGGGGTTTCACCATAGTAGCCATGATGGTCTCGAACTCCTGACTTCGTGATCCGCCCTCCTTGGCCTCCCAGAGGGCCTCCCAGAGTGTTGGGATTACAGGCATGAGCCACTGCAGCCTGTTTTGTTTTTTTTTTTTTGTTCGTTTGTTTGTTTGTTTTTGTTCTGTTTTTTTTGAGACGGAGTTTCGCTCTTGTTGCCCAGGCTGGAGTGCAATGGCGCCATCTCAACTCACCGCAACCTCCACCTCCCGGGTTCCAGCGATTTTCCTGTCTCAGCCTCCCGAGTAGCTGGGACCACAGGCACCCACCACTACGCCTGGCTAATTTTGTATTTTTAGTAGAGACGAGGTTTCTCCACGTTGGTAAGACTGGTCTCGAACCCCCGACCTCAGGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAACCACCGCGCCCGACCTAATTTTTGTATTTTTAGTAGAGATGGGTTTTCGCCATGTTGGACAGGTTGGTCTCAAACTCCTGACCTCAGATGATCCTCCCGCTGTGGCCCCCCAAAGTGTTAGGATTACAGGCGTGAGCCACCGCGCCCGGCCTCTGTTAATGTTTCTTAAGAAAACAAAAAAATTAGGGGTATTGATTTTGTAGCTGCGCTAAGTAACCTTTGCTTTTTGCGTCCCTTGGTCTCAGTCCTAGCCATTTCCTATCCACCCTGTGGCTAATTTGTCCTTTCTGTAACAGACACCCTAGACTGTGTCTATGCGGTTGGGCAGAGGCGTGATGGGTAAACACTCCTGGCGGGAGACTACAGGCGCTGCAGCTACATCCTGTTTCGTACTGGGAGCAGGTGCCGCCCCGCGGAACACTTACTTGCCCCGCCCTGCGGTGGAGCAGGGCGGTCTCAGCCGCCGGAACCGCCCTGGAAGCCCGCCCCAATCCTGGGCGTCGCTTCGCTGTGAGTGCCGCTGCCACGGATTGGCTTCCAGGGTCCGGCCCGTCGGCCAATCAGGCGCGGGGGCGTTGTCTGGGGGCGGGGCTCCGGCCGCCTCTGACGAGTCCCGGATTTACCAGGGCCGGTGGGATCCCCTCGGGCTCCCGCCTTAGCATGCTGGCCGGGACATCTGGTGAACATGGCCTCTGCTACTGCGGCAGCAGCACGACGGGGCCTCGGCCGGGCTCTCCCTCTCTTCTGGCGTGGCTACCAGACCGAGCGGGGCGTTTACGGCTACCGGCCGAGGAAGCCCGAGAGCCGCGAGCCCCAGGGCGCCCTGGAGCGCCCCCCAGGTCGGGGATGGGGCCCGGGCGGTGGGAGCGGGGGCTGGGACGCAGAAGCCTCCCCTGGCCGATTTGCGGTGGGGTGTCGGGGTCGGGGAACCGGCTGCCGGCCTGAACGCGCGGCCGGTGGGGAGGAGGGGGAGGTGAGGGGAGCAGAGGGTAGGTGTGGGTGCTCAGTGTTGGGGTCATCCCCCGTCCATCCTCTGTAACTGAGGATCTTTGAGGTCCACGCTTGGGTGGTCTTCCCATCTTGCTGGTCCGGACCTGGTTTCGGAAGGGCTTTTCTTTCCTTTGTTGGAAACGTGTGAGAAACTCTTTTTTTCTTTCTCTTTTTGTTTCCTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTGGCCCAGGCTGGAGTGCAGTGCTGCGACCACAGCTCCCTGCAGCCTCGAACTCCTGGGCTCAGGCTATCCTTCCACCTCAGCGTCCCGAGTAGCTGGGGACACAGAGGGATGACCACGCCCAGCTTTTTTTTTTTTTTTTTTTTTTTTTTCATTTTTAGTAGAGATGGGGTCCCACCATGTTGCCCAGGCTGGTCTTGAACTCTTGAGCTCAAGCTGATCCTGCAGCCTCGGCCTCCCAATGTGTTGGGATTACAGGCTGAGCCACTGCACCCAGCCTAGAAAACCAGCTCTTTAATGAGGCGGAGCTGTGGGAGAAGTAAAGTTTTAAGGTCTCCCAAGGATACATTTCCAGGACCATCTCTGAGGCTTCTTTTATGTGAGCAGGTGGGGGGGTCCAAGACTGCATTGCTTGGGAGAAGTGGGCAGTTAGTTCCAGTCTTGGAAGACAGCATGATATTTATTATGTATTTGTCTCCTTGTAGCTAGTCTGTTACTTTAATTTCAGAGTTTAACTCTTAACTCTGCTGAATTTGGAACTATGTGCTGGTGGGGTTTCTTTCTTTTCCTTTTAGCCACTCTATTGACACCTTGATATGTGCTGGTGGTTTTAATGAATTAACAGTCATGAATATCAGCTTTTGGAACTTCTGTTGCATGCTCATTTGCGAGACTAATTTTGAGTATTTGGTTTACGCTCCAAAATTATTGTATCATTATTTATCCTCACGGAGTAGAAGATAAGTACAGATTGCTTATTAGAGGAAAATCATTTGGCATCTTTGATCTGATCATTAGATTAATGTTGAAGATCCCCTTCGGCATCTGGGCACCTGACCTTGGAATGTTCCATCAATCACACACTAGAACTTCAATATTTTGCTCTTCACTTCGGAGGGCATTTAAAATAAACCTCATATCTCTGTCTCTCTCTCTTTTTTTAATCCTAAAATGGAGTCTGGCTTTGTCGCCCAGGCTGGAGTGCAGTGGCACGATCTTGGCTCACTGCAACCTCTGTCTTCTGGGTTCAAGCGATTGTCCTGCCCCAGTGTTCCGAGTAGCTGGGATTACAGGCACCTGCCACCATGCCCAGCTAATTTTTGTATTTTTAGTAGAGATGGGGTTTCACCATGTTGGCCAGGCTGGTCTTGAACTCCCGACCTGAAGTGATCCACTGGCCTTGGCCTCCTAAAGTGCTGGGATTACAGGCATGAGCCACCGTGCCTGGCCAAGAGGGAACCTCCTTTTTGCAGAGCCGAATTCCCCTTCCTGTCTACTTGCTCATTAGGGAGCTCCAACTTGACCTCATCTTTCTTCTTGGGCCTTCCTGAAAGTGACAAGATACAATGAACATACGCTCCTGAGCTACAGGCTTCAAGGGCATGTAGTCTGCCTCAGTCCTGTCCTACAGGACAAAAACCAAATGTTTTGTCCTGTAGCATAACACTGCCCATCAGCTTTCTAGGTGGAAATACCTGTGTCCTTGGTACCCATTGCCTGGCTGCTAATCCAATGCCATATAT
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AACAGCAACAAAAATTAGCTGGGCGTGGTGGCAGGCGCCTGAAATCCCAGCTACTCGGGAGGCTGAGGCAGGGGAATTGCTTGAACCCGGGAGATGGAGGTTGCAGTGAGCCGAGATTGCCCTACTGCATTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAAAAAAAAAAAAAAAAAAAAAAGGAAAAAAAAGACAAGCCCTTGCAAAACCAGGTCCAAACTAGCAAGATGGGGAGGCCACCAAAGTGTGGACCTAAGGGGTCCCAGCTACAGTAGCTGTGCTGGATGACGCTCCTGTGCTTGCAGGGGGCACTTACATGTGCCTACATTATATAATCTATCATCCTGTGTGCTGAGTTCTATCTACAGCTAGACTGGGAACTAAGGGCAGAAACTGTGCCTTATTAATCTTTGTAACCCAGCAGAGTGCTTTATGAGTGTACTGGTTGAATGAGTAAGAAGGAGGATGTCTTGGGCTTGTATGTATAATATTCCTAGGAGTTTGGGGTATAGCTGCACAGCTTACTGGAACGAAGGATGACTAACCAGGTAAGGATGCAGACTCTCTCTCCTACCATACTGGCAAAGTTAAAAGTAAGCCACAGAAAAAAAATCATTTGGGAAACTCACTCAGAGACAGACCAACTAATCGTTCATGTCCAGTTTCTTTTGACTCTTATCCCTTTCTTCCCTGCTCCCTTTACCCTATTTCCTTCTTTCTCTCTTAATGTTTTTTGTTTGTTTGTGAGACAGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGGCACGATCTTGGCTCACTGCAACCTCTGCCTCCAGGGTTTAAGCGATTCTTCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCACCCGCCACCACACTCGGCTAATTTTTGTATTTTTAGTAGAGACGGGGTTTCACCATAGTAGCCATGATGGTCTCGAACTCCTGACTTCGTGATCCGCCCTCCTTGGCCTCCCAGAGGGCCTCCCAGAGTGTTGGGATTACAGGCATGAGCCACTGCAGCCTGTTTTGTTTTTTTTTTTTTGTTCGTTTGTTTGTTTGTTTTTGTTCTGTTTTTTTTGAGACGGAGTTTCGCTCTTGTTGCCCAGGCTGGAGTGCAATGGCGCCATCTCAACTCACCGCAACCTCCACCTCCCGGGTTCCAGCGATTTTCCTGTCTCAGCCTCCCGAGTAGCTGGGACCACAGGCACCCACCACTACGCCTGGCTAATTTTGTATTTTTAGTAGAGACGAGGTTTCTCCACGTTGGTAAGACTGGTCTCGAACCCCCGACCTCAGGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAACCACCGCGCCCGACCTAATTTTTGTATTTTTAGTAGAGATGGGTTTTCGCCATGTTGGACAGGTTGGTCTCAAACTCCTGACCTCAGATGATCCTCCCGCTGTGGCCCCCCAAAGTGTTAGGATTACAGGCGTGAGCCACCGCGCCCGGCCTCTGTTAATGTTTCTTAAGAAAACAAAAAAATTAGGGGTATTGATTTTGTAGCTGCGCTAAGTAACCTTTGCTTTTTGCGTCCCTTGGTCTCAGTCCTAGCCATTTCCTATCCACCCTGTGGCTAATTTGTCCTTTCTGTAACAGACACCCTAGACTGTGTCTATGCGGTTGGGCAGAGGCGTGATGGGTAAACACTCCTGGCGGGAGACTACAGGCGCTGCAGCTACATCCTGTTTCGTACTGGGAGCAGGTGCCGCCCCGCGGAACACTTACTTGCCCCGCCCTGCGGTGGAGCAGGGCGGTCTCAGCCGCCGGAACCGCCCTGGAAGCCCGCCCCAATCCTGGGCGTCGCTTCGCTGTGAGTGCCGCTGCCACGGATTGGCTTCCAGGGTCCGGCCCGTCGGCCAATCAGGCGCGGGGGCGTTGTCTGGGGGCGGGGCTCCGGCCGCCTCTGACGAGTCCCGGATTTACCAGGGCCGGTGGGATCCCCTCGGGCTCCCGCCTTAGCATGCTGGCCGGGACATCTGGTGAACGTGGCCTCTGCTACTGCGGCAGCAGCACGACGGGGCCTCGGCCGGGCTCTCCCTCTCTTCTGGCGTGGCTACCAGACCGAGCGGGGCGTTTACGGCTACCGGCCGAGGAAGCCCGAGAGCCGCGAGCCCCAGGGCGCCCTGGAGCGCCCCCCAGGTCGGGGATGGGGCCCGGGCGGTGGGAGCGGGGGCTGGGACGCAGAAGCCTCCCCTGGCCGATTTGCGGTGGGGTGTCGGGGTCGGGGAACCGGCTGCCGGCCTGAACGCGCGGCCGGTGGGGAGGAGGGGGAGGTGAGGGGAGCAGAGGGTAGGTGTGGGTGCTCAGTGTTGGGGTCATCCCCCGTCCATCCTCTGTAACTGAGGATCTTTGAGGTCCACGCTTGGGTGGTCTTCCCATCTTGCTGGTCCGGACCTGGTTTCGGAAGGGCTTTTCTTTCCTTTGTTGGAAACGTGTGAGAAACTCTTTTTTTCTTTCTCTTTTTGTTTCCTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTGGCCCAGGCTGGAGTGCAGTGCTGCGACCACAGCTCCCTGCAGCCTCGAACTCCTGGGCTCAGGCTATCCTTCCACCTCAGCGTCCCGAGTAGCTGGGGACACAGAGGGATGACCACGCCCAGCTTTTTTTTTTTTTTTTTTTTTTTTTTCATTTTTAGTAGAGATGGGGTCCCACCATGTTGCCCAGGCTGGTCTTGAACTCTTGAGCTCAAGCTGATCCTGCAGCCTCGGCCTCCCAATGTGTTGGGATTACAGGCTGAGCCACTGCACCCAGCCTAGAAAACCAGCTCTTTAATGAGGCGGAGCTGTGGGAGAAGTAAAGTTTTAAGGTCTCCCAAGGATACATTTCCAGGACCATCTCTGAGGCTTCTTTTATGTGAGCAGGTGGGGGGGTCCAAGACTGCATTGCTTGGGAGAAGTGGGCAGTTAGTTCCAGTCTTGGAAGACAGCATGATATTTATTATGTATTTGTCTCCTTGTAGCTAGTCTGTTACTTTAATTTCAGAGTTTAACTCTTAACTCTGCTGAATTTGGAACTATGTGCTGGTGGGGTTTCTTTCTTTTCCTTTTAGCCACTCTATTGACACCTTGATATGTGCTGGTGGTTTTAATGAATTAACAGTCATGAATATCAGCTTTTGGAACTTCTGTTGCATGCTCATTTGCGAGACTAATTTTGAGTATTTGGTTTACGCTCCAAAATTATTGTATCATTATTTATCCTCACGGAGTAGAAGATAAGTACAGATTGCTTATTAGAGGAAAATCATTTGGCATCTTTGATCTGATCATTAGATTAATGTTGAAGATCCCCTTCGGCATCTGGGCACCTGACCTTGGAATGTTCCATCAATCACACACTAGAACTTCAATATTTTGCTCTTCACTTCGGAGGGCATTTAAAATAAACCTCATATCTCTGTCTCTCTCTCTTTTTTTAATCCTAAAATGGAGTCTGGCTTTGTCGCCCAGGCTGGAGTGCAGTGGCACGATCTTGGCTCACTGCAACCTCTGTCTTCTGGGTTCAAGCGATTGTCCTGCCCCAGTGTTCCGAGTAGCTGGGATTACAGGCACCTGCCACCATGCCCAGCTAATTTTTGTATTTTTAGTAGAGATGGGGTTTCACCATGTTGGCCAGGCTGGTCTTGAACTCCCGACCTGAAGTGATCCACTGGCCTTGGCCTCCTAAAGTGCTGGGATTACAGGCATGAGCCACCGTGCCTGGCCAAGAGGGAACCTCCTTTTTGCAGAGCCGAATTCCCCTTCCTGTCTACTTGCTCATTAGGGAGCTCCAACTTGACCTCATCTTTCTTCTTGGGCCTTCCTGAAAGTGACAAGATACAATGAACATACGCTCCTGAGCTACAGGCTTCAAGGGCATGTAGTCTGCCTCAGTCCTGTCCTACAGGACAAAAACCAAATGTTTTGTCCTGTAGCATAACACTGCCCATCAGCTTTCTAGGTGGAAATACCTGTGTCCTTGGTACCCATTGCCTGGCTGCTAATCCAATGCCATATAT
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Task1_train_13660
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Here is a mutation in OPTN, LOC108903148 (optineurin| 10p13 OPTN distal Alu-mediated recombination region) on Chromosome 10. Determine whether it’s benign or pathogenic. If the latter, what disease does it cause?
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Pathogenic; Glaucoma 1, open angle, E
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AAAATTGGCCAGGCATGGTGGCTGACGCCTATAGTCCCAGCTACTTGGGAGGCTGAGTCAGGAGAATCACTTGAACCCAGGAGGTGGAGGTTGCAGTGAGCCGAGATCGCTCCACTGCACTCCAGCCTGGGCAACAGAGAGAGACTCTCAAAAAACCAAAACAGTCTTTTTTTTTTTTTTTTTTTGAGACTCTGTCGCCCATGCTGGAGTGCAGTGGCACGATCTCGGCTCACTGCAAGCTCTGCCTCCTGGGTTCACGCCATTCTCCTGCCGCAGCCTCCGGAGTAGCTGGGACTACAGGCACCTGCCACCATGCTTGGCTAATTTTTTGTATTTTTTTTATTAGAGACAGGGTTTCACCGTGTTAGCCAGGATGGTCTCGATCTCCTGACCTCGTAATCTGCCCGCCTCAGCCTCCCAAAGTGCTGGGATTAGAGGCGTGAGCCACCGCGCCCGGCTCAAAAACAATCTTCTAACAGTAAACATCCTGGAAGTAAATAATATGCTTTTTCAGGCATGTCTCTGGACTTTGGCCATTCTTGACCTTTGTAGAATGCGTGTGTGGGCCATGTGTACACAGCGTCAGCGGGGAGGAGTTGCCTTTGCTATGTATTGCTTTATAATCTATCCCCATCAGCTCTTGAAGAAAATACATCATTTTCACCAAGTGTGAAGGTGGAAATTTGTGCTGAAACATGTTTGCCTGGGTGGTTGGTAACACAGAAGCAGAGTGGGGATTTACTCATTGGTCTTGCATTTCTATGTCCACATGGATGCCTCTACAAAACAAAATGATATGTGTAAAAAAATTTCAGACCATGCAATACCTAAAGATATCTTAGTCTTTTCAGTATGCATTGAAAAATAGACTATTAAAGCCTAAGTACTCAGTAATATAACTTTGTTGTTTTACAAGGTGTGGCTTTGATAGCTGGTGGTGCCACTTCCTGGCCTTGGATGAGCCGTACGCCTCTGTAAACCCAACTTCCTCACCTTTGAAACAGCTGCCTGGTTCAGCATTAATGAAGATTAGTCAGTGACAGGCCTGGTGTGCTGAGTCCGCACATAGTAAGCATTCAAAGAATGTTAATTCTCCCTTTCTTCTTAACCAAAAACACAATAAACTAAATATAGGTTTTAAAACAGCTTTTTTGAGATAGAATTCACTTACCATGCAATTTACTTGAAATAAGGAGATTTGAATTTGAAGATTTGCATGGGAAATTTTTTTCATGATACCTTGCCCATGTCTACATATATCCTGATCATCATGATGTCATACCCTCGTCTCCCTCCCCCATTTCCCAAATCCTTATTGTACCCTTTTTTTTTTTTTTTGGTTTGAGACGGAGTCTCGCTCTGTTGCCCAGGCTGGAGTGCAGTGGCGCGATCTTGGCTCACTGCAAGCTCTGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAAGCGCCCAACACCAAGCCCGGCTAATTTTTTGTATTTTTAGTAGAGACGGGGTTTCACTGTGTTAGCCAGGATGGTCTCAATCTCCTGACCTCATGATCTGTCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCACGCCCGGCCCTCATTGTACCCTTTTATACACCCATACACACACACGCACACACACACATGCACACATGCGCGTGCACACACACACACACTTTTCTGAAGCTACATATACCTTTTTTGTTTAAAAGGAAGAATCAAAAATGTCCAAAATGTAACTGGAGAGAAAGTGGGCAACTTTTGGAGTAAGTATTAGCAATCGCCAATGGGTTTGTGGGACTCCCGGGGACCCCTTGTGGGGCGGGGGACAGCTCTATTTTCAACAGGTGACTTTTCCACAGGAACTTCTGCAATGTCCCATCAACCTCTCAGCTGCCTCACTGAAAAGGAGGACAGCCCCAGTGAAAGCACAGGAAATGGACCCCCCCACCTGGCCCACCCAAACCTGGACACGTTTACCCCGGAGGAGCTGCTGCAGCAGATGAAAGAGCTCCTGACCGAGAACCACCAGCTGAAAGGTGAGCAGGGCTGGCCCCTGTGTGCCCCATTCATCCTGGGCCTGCAAGAAATGCCATCCCTTTGCACTAAGGCTTGGTGGTGAGCTCCCTTCTCCCCGTTTCCATAGGTGGTAGCTGGTGGGGAAGCACAGGATTTAGCATTTGGCAAGGCTAAATCTGTTCTGATTTTTACTTTTGGAAACAGGTACAAGTAAAAACTGTGTGTATCTCAAGGAAGTAGCATAATGATATTTAGCCCATTCAAAAGGAAAAAGAGGCTGGGCGTGGTGGCTCATGCCTGTCATTCCATCACTTTGGGAGGCCGAGGCAGAAGGATTGCTTGAGTACAGGAGTTCAAGACCAGCCTGGGCAAGATGGCAAGACCTGATCTCTACAAAAAAATTAAAAAAAAAAAAAAAAAGCTGGGCGTGGTGGTGCACGCCTCTGGTCCTAGCTACTGGGGATGCTGAGGTTGGAGGATTGCTTGAGCCTGGGAAGTTGGAGCTGCAGTGAGCCATGATCGTGCCACTGCACTTTAGCCTGGATGACAGAGAGAGACCCTGACTCAAAAAAAAAAAAAAAAAAAGGAAAAAGGAAGAAAGGCTGCTATGGTTCCAGAGTTAGTCCTATATATTACCTTATTAAGAGAAAGCATCCTGGTATCTCAAGATGGCTTTGGGCAGGACCAGTATTTGAATCTAGGAGTAGTAAGAACTTCCTTAGCTCCTAGTAACCATAGATATTTAGATATTTGTGCTGTAGTGGCGGTACCCAAATCCACTTTATTTTCTTGGGATTTTTAAGGACTAGAAATGATGTTCATCCCGCTAGTCTTTTCTGTAAGCAAAAACCACTTCGTCTTTTTGCTGCTGACCCTTGGGCCAAGGCTAAGCATGGCATCTTTCAATTCAGAGCCATGTGGTCAAGTGGACTAGAGGGAGATTTGGTTCATCAGATCAAGTCCACTTTCCTGGTGTGTGACTCCATCACTCTGAACCTCCTGCAGAAGCCATGAAGCTAAATAATCAAGCCATGAAAGGGAGATTTGAGGAGCTTTCGGCCTGGACAGAGAAACAGAAGGAAGAACGCCAGTTTTTTGAGATACAGAGCAAAGAAGCAAAAGAGCGTCTAATGGCCTTGAGTCATGAGAATGAGAAATTGAAGGAAGAGCTTGGAAAACTAAAAGGGAAATCAGAAAGGTCATCTGAGGTGAGCAGACCGATCCATTGTGATGTTGTTTTTTTTTTTTCCCTTGACATTTGCAGTGGAATCTTACGTGTCTAGACTCCTAGATCAAAACCTTTCATGGTTCAGTCTGGATTGGTGTTTTGCCTGGTCTTGGAAGAAGTGCTTTTGCTGAAAAGATTGGTTGCCCTATTAAGGGTCATGGATAATCTCTTTTAGAAGAAAGAAATTTGTAAAGCTTTGACCGTACTGATTGTAGGCAAAAGAACAGTAAGGTTATAAATCATTGTATTGTATTCATTATAGATGGTGCAGATGGGCCTCTGCCTAGAACCAACAATTGTTTTTAGTTTGTCTTTGATATAAAAAATATGTTTAAAAAACCCATTACTCAGAATTTTTACTTGTTGACCTTGTCTGTTCTCTCAGTCTAAAATGGAGATTATTCACTTTACATTTTCCTTTTTAAAAATGCTTTGGAAAATGTCATGTTGTGGTAGGAGGCTATCGCATTGCCACAGATGAAAAGAGAAAGAGACACATTTTTCTTAACCCAAAGAACCTGGAAAAATGTGCTCATACCTGGGAGTGGATGTCAAAGATGATAGTAATGACACAACCCAGAACAAGTTTGAAATCCCCACTGGGCGTGGTTTGTTAAGGAGTCCTCTGCTGTCCATGCCAAGTGTGGGGAGAATGGGTGTGGGTGGGCTTTGATGGGAGGAAAAGGGCAGGAGGTTGGGTGGTGGGAACGTTTTTTCCTTCCTTTCTGGAATTTTAGACACAGCTTATGAGTCCACTGTTGCCAAAGTGTGGTTGATTATTTCTATGATATCAGATTATTCCAGCATGGCAAGGAAGGCTT
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AAAATTGGCCAGGCATGGTGGCTGACGCCTATAGTCCCAGCTACTTGGGAGGCTGAGTCAGGAGAATCACTTGAACCCAGGAGGTGGAGGTTGCAGTGAGCCGAGATCGCTCCACTGCACTCCAGCCTGGGCAACAGAGAGAGACTCTCAAAAAACCAAAACAGTCTTTTTTTTTTTTTTTTTTTGAGACTCTGTCGCCCATGCTGGAGTGCAGTGGCACGATCTCGGCTCACTGCAAGCTCTGCCTCCTGGGTTCACGCCATTCTCCTGCCGCAGCCTCCGGAGTAGCTGGGACTACAGGCACCTGCCACCATGCTTGGCTAATTTTTTGTATTTTTTTTATTAGAGACAGGGTTTCACCGTGTTAGCCAGGATGGTCTCGATCTCCTGACCTCGTAATCTGCCCGCCTCAGCCTCCCAAAGTGCTGGGATTAGAGGCGTGAGCCACCGCGCCCGGCTCAAAAACAATCTTCTAACAGTAAACATCCTGGAAGTAAATAATATGCTTTTTCAGGCATGTCTCTGGACTTTGGCCATTCTTGACCTTTGTAGAATGCGTGTGTGGGCCATGTGTACACAGCGTCAGCGGGGAGGAGTTGCCTTTGCTATGTATTGCTTTATAATCTATCCCCATCAGCTCTTGAAGAAAATACATCATTTTCACCAAGTGTGAAGGTGGAAATTTGTGCTGAAACATGTTTGCCTGGGTGGTTGGTAACACAGAAGCAGAGTGGGGATTTACTCATTGGTCTTGCATTTCTATGTCCACATGGATGCCTCTACAAAACAAAATGATATGTGTAAAAAAATTTCAGACCATGCAATACCTAAAGATATCTTAGTCTTTTCAGTATGCATTGAAAAATAGACTATTAAAGCCTAAGTACTCAGTAATATAACTTTGTTGTTTTACAAGGTGTGGCTTTGATAGCTGGTGGTGCCACTTCCTGGCCTTGGATGAGCCGTACGCCTCTGTAAACCCAACTTCCTCACCTTTGAAACAGCTGCCTGGTTCAGCATTAATGAAGATTAGTCAGTGACAGGCCTGGTGTGCTGAGTCCGCACATAGTAAGCATTCAAAGAATGTTAATTCTCCCTTTCTTCTTAACCAAAAACACAATAAACTAAATATAGGTTTTAAAACAGCTTTTTTGAGATAGAATTCACTTACCATGCAATTTACTTGAAATAAGGAGATTTGAATTTGAAGATTTGCATGGGAAATTTTTTTCATGATACCTTGCCCATGTCTACATATATCCTGATCATCATGATGTCATACCCTCGTCTCCCTCCCCCATTTCCCAAATCCTTATTGTACCCTTTTTTTTTTTTTTTGGTTTGAGACGGAGTCTCGCTCTGTTGCCCAGGCTGGAGTGCAGTGGCGCGATCTTGGCTCACTGCAAGCTCTGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAAGCGCCCAACACCAAGCCCGGCTAATTTTTTGTATTTTTAGTAGAGACGGGGTTTCACTGTGTTAGCCAGGATGGTCTCAATCTCCTGACCTCATGATCTGTCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCACGCCCGGCCCTCATTGTACCCTTTTATACACCCATACACACACACGCACACACACACATGCACACATGCGCGTGCACACACACACACACTTTTCTGAAGCTACATATACCTTTTTTGTTTAAAAGGAAGAATCAAAAATGTCCAAAATGTAACTGGAGAGAAAGTGGGCAACTTTTGGAGTAAGTATTAGCAATCGCCAATGGGTTTGTGGGACTCCCGGGGACCCCTTGTGGGGCGGGGGACAGCTCTATTTTCAACAGGTGACTTTTCCACAGGAACTTCTGCAATGTCCCATCAACCTCTCAGCTGCCTCACTGAAAAGGAGGACAGCCCCAGTGAAAGCACAGGAAATGGACCCCCCCACCTGGCCCACCCAAACCTGGACACGTTTACCCCGGAGGAGCTGCTGCAGCAGATGAAAGAGCTCCTGACCAAGAACCACCAGCTGAAAGGTGAGCAGGGCTGGCCCCTGTGTGCCCCATTCATCCTGGGCCTGCAAGAAATGCCATCCCTTTGCACTAAGGCTTGGTGGTGAGCTCCCTTCTCCCCGTTTCCATAGGTGGTAGCTGGTGGGGAAGCACAGGATTTAGCATTTGGCAAGGCTAAATCTGTTCTGATTTTTACTTTTGGAAACAGGTACAAGTAAAAACTGTGTGTATCTCAAGGAAGTAGCATAATGATATTTAGCCCATTCAAAAGGAAAAAGAGGCTGGGCGTGGTGGCTCATGCCTGTCATTCCATCACTTTGGGAGGCCGAGGCAGAAGGATTGCTTGAGTACAGGAGTTCAAGACCAGCCTGGGCAAGATGGCAAGACCTGATCTCTACAAAAAAATTAAAAAAAAAAAAAAAAAGCTGGGCGTGGTGGTGCACGCCTCTGGTCCTAGCTACTGGGGATGCTGAGGTTGGAGGATTGCTTGAGCCTGGGAAGTTGGAGCTGCAGTGAGCCATGATCGTGCCACTGCACTTTAGCCTGGATGACAGAGAGAGACCCTGACTCAAAAAAAAAAAAAAAAAAAGGAAAAAGGAAGAAAGGCTGCTATGGTTCCAGAGTTAGTCCTATATATTACCTTATTAAGAGAAAGCATCCTGGTATCTCAAGATGGCTTTGGGCAGGACCAGTATTTGAATCTAGGAGTAGTAAGAACTTCCTTAGCTCCTAGTAACCATAGATATTTAGATATTTGTGCTGTAGTGGCGGTACCCAAATCCACTTTATTTTCTTGGGATTTTTAAGGACTAGAAATGATGTTCATCCCGCTAGTCTTTTCTGTAAGCAAAAACCACTTCGTCTTTTTGCTGCTGACCCTTGGGCCAAGGCTAAGCATGGCATCTTTCAATTCAGAGCCATGTGGTCAAGTGGACTAGAGGGAGATTTGGTTCATCAGATCAAGTCCACTTTCCTGGTGTGTGACTCCATCACTCTGAACCTCCTGCAGAAGCCATGAAGCTAAATAATCAAGCCATGAAAGGGAGATTTGAGGAGCTTTCGGCCTGGACAGAGAAACAGAAGGAAGAACGCCAGTTTTTTGAGATACAGAGCAAAGAAGCAAAAGAGCGTCTAATGGCCTTGAGTCATGAGAATGAGAAATTGAAGGAAGAGCTTGGAAAACTAAAAGGGAAATCAGAAAGGTCATCTGAGGTGAGCAGACCGATCCATTGTGATGTTGTTTTTTTTTTTTCCCTTGACATTTGCAGTGGAATCTTACGTGTCTAGACTCCTAGATCAAAACCTTTCATGGTTCAGTCTGGATTGGTGTTTTGCCTGGTCTTGGAAGAAGTGCTTTTGCTGAAAAGATTGGTTGCCCTATTAAGGGTCATGGATAATCTCTTTTAGAAGAAAGAAATTTGTAAAGCTTTGACCGTACTGATTGTAGGCAAAAGAACAGTAAGGTTATAAATCATTGTATTGTATTCATTATAGATGGTGCAGATGGGCCTCTGCCTAGAACCAACAATTGTTTTTAGTTTGTCTTTGATATAAAAAATATGTTTAAAAAACCCATTACTCAGAATTTTTACTTGTTGACCTTGTCTGTTCTCTCAGTCTAAAATGGAGATTATTCACTTTACATTTTCCTTTTTAAAAATGCTTTGGAAAATGTCATGTTGTGGTAGGAGGCTATCGCATTGCCACAGATGAAAAGAGAAAGAGACACATTTTTCTTAACCCAAAGAACCTGGAAAAATGTGCTCATACCTGGGAGTGGATGTCAAAGATGATAGTAATGACACAACCCAGAACAAGTTTGAAATCCCCACTGGGCGTGGTTTGTTAAGGAGTCCTCTGCTGTCCATGCCAAGTGTGGGGAGAATGGGTGTGGGTGGGCTTTGATGGGAGGAAAAGGGCAGGAGGTTGGGTGGTGGGAACGTTTTTTCCTTCCTTTCTGGAATTTTAGACACAGCTTATGAGTCCACTGTTGCCAAAGTGTGGTTGATTATTTCTATGATATCAGATTATTCCAGCATGGCAAGGAAGGCTT
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Task1_train_13661
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This sequence variant lies in OPTN (optineurin) on Chromosome 10. Is it clinically significant, and what condition might it cause if any?
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Pathogenic; Amyotrophic lateral sclerosis type 12
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TCATTCTAGACATAGACATTTGTTTTCTCTTGATGGATACTCTTGCTCATTCATTCAATAACTTCTTTTTTGAGCACTTATAATATGTCAGAGACGGCCGGGCATGGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCCGAGGCAGGCAGATTACAAGGTCAGGAGTTCGAGACCAACCTGGCCAATATGGTGAAACCCCGTCTCTACTAAAAATACAAAAATTAGCCGAGCGTGTTGGCGGGCACCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATTGCTTGAACCTGGGAGGCAGAGGTTGCAGTGAGCCGAGATCATGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCTATCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAAATCAGACACTGTTCTTACTGCCTGGGATATAGGAATAGACAAAACAAAGACTCTGTTCTTACTGGCTCAAAGCTAGTAAGTGATAGAAGTGAGACTAAATCGAATTTAAGTCATACTCCAAAACACCCATGATCCACTGCCAACACTGTGAGATGCTGAACCACTCACATTGATAGGATATCCCTTAAAATGATCTCTTTATTACATACTTTTAAGTAACTATAGTTTTGATAGAATATTTAGATTTTTAATTTTACTTTTAAAATAATGGATAATAATTTATATCTCAGAACCAGCAAATTTGAAAAGAAAAAACTAATTTTAAACATAGAAAGTGAAAAATTAGTATTAAATTCCAATACCAATGGAACAGTTCACTCAATTAGCTGACAGCATTAAATATTAAAACACTATTAAGTGTTTTGTTATTTATAATTTTTTAAAAATTACTTAATTTTTAAAATGTTGTGTTGTTTTGTTTTTTGAGGCAGGGTCACACTCCTGTCACCCAGGCTGGAGTGCAGTCGCATGATCGTGGTTCACTGCAACCTCTATTTCCTGGGCTCAGGTGATCCTCGTGCCTCAGCCTCCCAAGTAGCTGGAACTACAAGTGCATGCCATCATGCCCAGCTGATTTTTTGTATTTTTAGTAGCGATGAGGTTTTGCCATGTTGCCCAGGCTGTCAGCAGGAGGCCTCAGTTCCTCACCATGTGGTCTCCTCCAGAGGGATGCTTGGGTGCCCTCATGTCATGGCAGCTGGCTTCCCCCAAAGCAAGTGATCCAACAGAGAGCAAGGAGTGACAGCGTCTTTTGTGACCTAGTCTCAGAAGCCGTACACCATCACTTCTGCGGCATCCTGGAGGTTACACAGGTTGGGTTTATTCATTGTGGGAGGGAAACATACAAGGTGATGAATACCAAGAGGCAAGGATCACTGGAGCCATCTTAGGAGGCTGGTGACCACACATGGGACATGGATTGAATATGGAAAAGTTCATGGGAAATGGTCTTCTGTCTGGTTCAAATGCTGATTTGGCCACTTAACAAATTTTCCCAAGATTAAGAGCCGTTAAGTTTGTAAAATGAGGATAGCCATTCTTTATTCTCAGGATATTTCATAAGGTAAAATAAGATAGTAAATGTAAAGCACCCAACATAGGACCTCACACATGTTTGGAATTTAACAAATAGCATCTATTTGTGATGATTATTCTTTTAAATTTAGCTTAAGACCAGCCTTCATAAATACACCTGGCAGAATCAATTTACTATATTAAGTAATCATTTACTATATTAAGTTGATCCTGAATTGTTTATTATCTAAAAGTCCAGATAATTTTGCTGAATTAATGGTACCTACAGTATTTAAACTACCTATATCAGTGCAGTTGCAGGATTTGTGTTGTTTAAAGCACACACACAAACACAGCTTGTATCTGCTATCGGAATGTACCTGGAAAGTCATGGTCATTATACTGTTTTCTAGCAGGATTGTGCATCTGTGATTCACAAGGGCTATTGAAGGATACAGCACTACCTCCTCATCGCATAAACACTGTAAGAATCTGCATTCATCTAGGTACTAACTTCTGTATCTTTTTTTCCTCTAACAGATGGAAGTTTACTGTTCTGATTTTCATGCTGAAAGAGCAGCGAGAGAGAAAATTCATGAGGAAAAGGAGCAACTGGCATTGCAGCTGGCAGTTCTGCTGAAAGAGAATGATGCTTTCGAAGACGGAGGCAGGTAAGGAAAAGAGAGAGGAGGACCCAGAGCTCACATCAGCATGGCCGTAGAAGAGGTGCCTGTCCAAAGACGTTCCTGATTTGAACTATAAGAATAGCTGTGTTCGCGCCACTGCACTCCTGCCTAGGTGACAGAGCGAGTCCCCTGTCTGAAAAATAAATAATAATAATAATAATTGCTTCACTTACACTTCATGTGATCATGTTCCCAACACTTAGTTTGTCTTACAGGAAAGCTTGACAGAGACTTGTGGGAGCTTGATCAAGCTCCTTGCTTTTAGATAAGCAAGGATTTTGATTTGATTTTAAAATGTTGTGTTGTTTTGTTTTGTTTTTTGAGGCAGGGTCTCACTCCTGTCACCCAGGCTGGAGTGCAGTGGCATGATCATGGTTCACTGCAGCCTCAACTTCCTGAGCTCAGGTGATCCTCGTGCCTCAGCCTCCCGAGTAGCTGGAACTACAAGTGCATGCCACCATGCACTTGTAACAATAATGTTACGTGTCCCAATGACCTATCTTGCCATCGTCACGGATGAAATATTCGTAGCACTTTAAATTCCTGAATATTCTTTAAAAAATACTAACAAAAATTACTTCTGACTTTTAGAAATTTATTTTGAGAAAGTTTTAAAACACAGCAAAATTCAGAGAATAAAATAACAGACTCTACTATGTACTCCTTCCTGCATTGACAACTGCTTTTATTTGCTTCAAGTATTTTTTTTTTATTAAAGGAAAAAGGGAGTTGTAGTTAGAATCAAAGTCTCCTTTGTTCCCCATCCATCATTATATTCCTTTCTTCTTTACCTTGTGCTGTTAGGAATTTGGTGGGTAGCTTCCCCATCTATTTTATACTTTTACATATCACATACACACTTACCTATATCATATCTCAAAACCAGATAATATTGATTTCTCTGTGTTTAAGTTACAAAATGATCACTGTAGGTATTGTTCTGCAGCTTACTTTACATAATATTATGATTTTGAGCTCTCTTGATATGTGCGGATGTAATTTATTATACTTCATTGCTGTATTTTGATTTATAAATATGCCACTTCTTTCTAATCTGTTTCCTACTGATGACAGTTTGGTTATTTCCTGATTTTTTTTAACTGTAATTATTTACTTTCACTAGTCTCCTAGTGCCAATAGTATTTAAAACTAAAATTAGTCTGGTTTTTATGAACCTTGGCAGTGTAGTTTGAGTCTTTTTTCCCCTACTTCTGTGGACTGTCTGCTCAGTGTTGTCATGTTTCGGGGTTGTAGAACATCACACAGCGTGTTGCTTTTCGTCCTGGCAGGCAGTCCTTGATGGAGATGCAGAGTCGTCATGGGGCGAGAACAAGTGACTCTGACCAGCAGGCTTACCTTGTTCAAAGAGGTGAGTCCCGTGTGATCCTGGATTTTCAGGAAATAGCTATCCTATGAAAAAGATGCTTGAAGAAAAATTCCACTTCATTCTCTACAATGGATTCCAAATCAAGGCACCAAAAATATAGCACCCGTCAGTCTCATTACCACAGCACTCCCATCTCCATCCATTACCCACCGAATCCAGACCAGACCCTTCACCCTGCCAGAAGGTGCCTGGCACGGCCACACTTTTTCTTTTTTTTCTTTTTTTTTGAGACAGAATTTCGCTGTGTCGTCCAGGCTGGAGTGCAGTGGCGAGATCTCGGCTCACTGCAACCTCCACTTCCTGTGTTCAAACGGTTCTCCTTCCACAGCCTCCCGAGTGGCTGGAATTACAGGCGTGCACCGCCACACCCAGCTAATTTTTGTATTTTTAATAGAGATGGGGTTTCACCGTGTTGGCCAGGCTGGTCTCGAACTCCTGACCTCAACTAACCTGCCTGTCTCGGTCTCCCAAAGTACCGGGATTACAGGCGCAAGCCACTGTACCCGGCCTACAGCCACACTTTTAAACCGTGTCTCCCTCTGTTCT
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TCATTCTAGACATAGACATTTGTTTTCTCTTGATGGATACTCTTGCTCATTCATTCAATAACTTCTTTTTTGAGCACTTATAATATGTCAGAGACGGCCGGGCATGGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCCGAGGCAGGCAGATTACAAGGTCAGGAGTTCGAGACCAACCTGGCCAATATGGTGAAACCCCGTCTCTACTAAAAATACAAAAATTAGCCGAGCGTGTTGGCGGGCACCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATTGCTTGAACCTGGGAGGCAGAGGTTGCAGTGAGCCGAGATCATGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCTATCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAAATCAGACACTGTTCTTACTGCCTGGGATATAGGAATAGACAAAACAAAGACTCTGTTCTTACTGGCTCAAAGCTAGTAAGTGATAGAAGTGAGACTAAATCGAATTTAAGTCATACTCCAAAACACCCATGATCCACTGCCAACACTGTGAGATGCTGAACCACTCACATTGATAGGATATCCCTTAAAATGATCTCTTTATTACATACTTTTAAGTAACTATAGTTTTGATAGAATATTTAGATTTTTAATTTTACTTTTAAAATAATGGATAATAATTTATATCTCAGAACCAGCAAATTTGAAAAGAAAAAACTAATTTTAAACATAGAAAGTGAAAAATTAGTATTAAATTCCAATACCAATGGAACAGTTCACTCAATTAGCTGACAGCATTAAATATTAAAACACTATTAAGTGTTTTGTTATTTATAATTTTTTAAAAATTACTTAATTTTTAAAATGTTGTGTTGTTTTGTTTTTTGAGGCAGGGTCACACTCCTGTCACCCAGGCTGGAGTGCAGTCGCATGATCGTGGTTCACTGCAACCTCTATTTCCTGGGCTCAGGTGATCCTCGTGCCTCAGCCTCCCAAGTAGCTGGAACTACAAGTGCATGCCATCATGCCCAGCTGATTTTTTGTATTTTTAGTAGCGATGAGGTTTTGCCATGTTGCCCAGGCTGTCAGCAGGAGGCCTCAGTTCCTCACCATGTGGTCTCCTCCAGAGGGATGCTTGGGTGCCCTCATGTCATGGCAGCTGGCTTCCCCCAAAGCAAGTGATCCAACAGAGAGCAAGGAGTGACAGCGTCTTTTGTGACCTAGTCTCAGAAGCCGTACACCATCACTTCTGCGGCATCCTGGAGGTTACACAGGTTGGGTTTATTCATTGTGGGAGGGAAACATACAAGGTGATGAATACCAAGAGGCAAGGATCACTGGAGCCATCTTAGGAGGCTGGTGACCACACATGGGACATGGATTGAATATGGAAAAGTTCATGGGAAATGGTCTTCTGTCTGGTTCAAATGCTGATTTGGCCACTTAACAAATTTTCCCAAGATTAAGAGCCGTTAAGTTTGTAAAATGAGGATAGCCATTCTTTATTCTCAGGATATTTCATAAGGTAAAATAAGATAGTAAATGTAAAGCACCCAACATAGGACCTCACACATGTTTGGAATTTAACAAATAGCATCTATTTGTGATGATTATTCTTTTAAATTTAGCTTAAGACCAGCCTTCATAAATACACCTGGCAGAATCAATTTACTATATTAAGTAATCATTTACTATATTAAGTTGATCCTGAATTGTTTATTATCTAAAAGTCCAGATAATTTTGCTGAATTAATGGTACCTACAGTATTTAAACTACCTATATCAGTGCAGTTGCAGGATTTGTGTTGTTTAAAGCACACACACAAACACAGCTTGTATCTGCTATCGGAATGTACCTGGAAAGTCATGGTCATTATACTGTTTTCTAGCAGGATTGTGCATCTGTGATTCACAAGGGCTATTGAAGGATACAGCACTACCTCCTCATCGCATAAACACTGTAAGAATCTGCATTCATCTAGGTACTAACTTCTGTATCTTTTTTTCCTCTAACAGATGGAAGTTTACTGTTCTGATTTTCATGCTGGAAGAGCAGCGAGAGAGAAAATTCATGAGGAAAAGGAGCAACTGGCATTGCAGCTGGCAGTTCTGCTGAAAGAGAATGATGCTTTCGAAGACGGAGGCAGGTAAGGAAAAGAGAGAGGAGGACCCAGAGCTCACATCAGCATGGCCGTAGAAGAGGTGCCTGTCCAAAGACGTTCCTGATTTGAACTATAAGAATAGCTGTGTTCGCGCCACTGCACTCCTGCCTAGGTGACAGAGCGAGTCCCCTGTCTGAAAAATAAATAATAATAATAATAATTGCTTCACTTACACTTCATGTGATCATGTTCCCAACACTTAGTTTGTCTTACAGGAAAGCTTGACAGAGACTTGTGGGAGCTTGATCAAGCTCCTTGCTTTTAGATAAGCAAGGATTTTGATTTGATTTTAAAATGTTGTGTTGTTTTGTTTTGTTTTTTGAGGCAGGGTCTCACTCCTGTCACCCAGGCTGGAGTGCAGTGGCATGATCATGGTTCACTGCAGCCTCAACTTCCTGAGCTCAGGTGATCCTCGTGCCTCAGCCTCCCGAGTAGCTGGAACTACAAGTGCATGCCACCATGCACTTGTAACAATAATGTTACGTGTCCCAATGACCTATCTTGCCATCGTCACGGATGAAATATTCGTAGCACTTTAAATTCCTGAATATTCTTTAAAAAATACTAACAAAAATTACTTCTGACTTTTAGAAATTTATTTTGAGAAAGTTTTAAAACACAGCAAAATTCAGAGAATAAAATAACAGACTCTACTATGTACTCCTTCCTGCATTGACAACTGCTTTTATTTGCTTCAAGTATTTTTTTTTTATTAAAGGAAAAAGGGAGTTGTAGTTAGAATCAAAGTCTCCTTTGTTCCCCATCCATCATTATATTCCTTTCTTCTTTACCTTGTGCTGTTAGGAATTTGGTGGGTAGCTTCCCCATCTATTTTATACTTTTACATATCACATACACACTTACCTATATCATATCTCAAAACCAGATAATATTGATTTCTCTGTGTTTAAGTTACAAAATGATCACTGTAGGTATTGTTCTGCAGCTTACTTTACATAATATTATGATTTTGAGCTCTCTTGATATGTGCGGATGTAATTTATTATACTTCATTGCTGTATTTTGATTTATAAATATGCCACTTCTTTCTAATCTGTTTCCTACTGATGACAGTTTGGTTATTTCCTGATTTTTTTTAACTGTAATTATTTACTTTCACTAGTCTCCTAGTGCCAATAGTATTTAAAACTAAAATTAGTCTGGTTTTTATGAACCTTGGCAGTGTAGTTTGAGTCTTTTTTCCCCTACTTCTGTGGACTGTCTGCTCAGTGTTGTCATGTTTCGGGGTTGTAGAACATCACACAGCGTGTTGCTTTTCGTCCTGGCAGGCAGTCCTTGATGGAGATGCAGAGTCGTCATGGGGCGAGAACAAGTGACTCTGACCAGCAGGCTTACCTTGTTCAAAGAGGTGAGTCCCGTGTGATCCTGGATTTTCAGGAAATAGCTATCCTATGAAAAAGATGCTTGAAGAAAAATTCCACTTCATTCTCTACAATGGATTCCAAATCAAGGCACCAAAAATATAGCACCCGTCAGTCTCATTACCACAGCACTCCCATCTCCATCCATTACCCACCGAATCCAGACCAGACCCTTCACCCTGCCAGAAGGTGCCTGGCACGGCCACACTTTTTCTTTTTTTTCTTTTTTTTTGAGACAGAATTTCGCTGTGTCGTCCAGGCTGGAGTGCAGTGGCGAGATCTCGGCTCACTGCAACCTCCACTTCCTGTGTTCAAACGGTTCTCCTTCCACAGCCTCCCGAGTGGCTGGAATTACAGGCGTGCACCGCCACACCCAGCTAATTTTTGTATTTTTAATAGAGATGGGGTTTCACCGTGTTGGCCAGGCTGGTCTCGAACTCCTGACCTCAACTAACCTGCCTGTCTCGGTCTCCCAAAGTACCGGGATTACAGGCGCAAGCCACTGTACCCGGCCTACAGCCACACTTTTAAACCGTGTCTCCCTCTGTTCT
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Task1_train_13662
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Gene MCM10 (minichromosome maintenance 10 replication initiation factor) on Chromosome 10 is impacted by this variant. Evaluate whether it is clinically benign or pathogenic and name the disorder if relevant.
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Pathogenic; Immunodeficiency 80 with or without congenital cardiomyopathy
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GAGGCCAGAGAATCACTTGAACCTGGAAGGCAGAGGTTTCAGTGAGCTGAGATCGCACTATTATACTCCAGCCTGGGCGATAGAGTGAGATTCTGTCTCCAAAAAAGAATATAAATAAATAAAGTCAACAATTCAGTAATTTCTAGTACATTCACAGAGCTGTGCAACCATCACCACTGTGTAATTTCAGAACCCTTTCATTGCCCCAGAAAGAAACCCAGTACCCACTAGCAATCACTCCCCAGTCTCCTCTCCCCCAGCCCCTGGTAAGCACTAACCTACTTTCTGTCTCTATGGATTTGCCTCTTCTAGACATTTCATATAATGGAATCACAATATGTGGCCTTTTCTGTCTGGCTTCTTTTGCTTAGCATAATTTTTCTCACAATTGATCCGTGCTGTAGCATTTATCAACACTTTATTCCTTTTTGTGGGTAAATAATATTCCATTGTATGGATATACCATACGTTGTTTATTCTTTCATCAGTTGATACACGCTTGGGTTGTTGCCACATTTAGCTATTATGAATAATGCTGCTAAAACACTCACATACAAGTTTTTATGTGGATGTATGTTTTCCACTCCCTTGGGCATATACCTGGGAGTGGGATTGCTGGGTCAACATGGTAACTGTCCAGAGTTTGGAGGAACTGCCAGACTGGTTTCCCAAGTGGCCCACCAGCAATGGATGAACTTTCCAGTTTCTCCCTGTCCTCATCAGCACCTGTTACTCTATTTCTTTTTTGTTATAGCCATTGTAGTAGGTGTGAAGAGGTACTTCTTAGAGTTCTTTGAAAGGATTAAATGACAGGTTTTGGTTTAATCTTTTTTTATTCCCTTATTCCTTCCTATTAGATTAATTGGTGGACAGGAAAGAATAAGGTGGGAGACGGTTGGAAAATGAGGTTTCAGAGTGAAGTACCCAACAGATCTCCCCGTGAGAATTAGATTCTTAAAAATCCATTGTCTGGATGGGGCGGTGGCTCACACTTGTAATCCCTGCACTTTGGGTGGCCGAAGTGGGCCGATCACTTGAGGCCAGGAGTTCAAGACCAGCCTGGCCAACATGGTAAAACCCCGTCTCCAGTAAAAATACAAAAATTAGCTGGGCGTGGTTGTGCACACCTGTAATCCCAGCTACTTGGGAGGCTGAGGCAGAAGAATCACTTGAACCTAGGAGTTGGAGGTTGCAGTGGGCCAGGATCACGCCACTGCACTCCAGCCTGGGTGACAGAGCGAGACTCTGTCTCCAAAAAAAAATCCATTGTCGCCGTAACTACTGTTCACCCAGCAGAACAATGCTGCACCATCTCTCTTTGTTTCTTTCACTGAAAGGATAGCACTTGTCCGAGGATCAACCAGAGAAACAGCTAGAAAAACCTCGCTGGGAGCTGATTTTGTTTTTAAATTATTTTTTATTGGGTCAAAATTCACAATATACAGTTAATCATTTTAAAATACATATATAATTCAGTGATATTTAGTTGTGTAACCACCAGCTCCCTGGTTTCAGAATTCCATCACCCTGTAAAAACAATGGCACCATAAAGTCATCACTCCCATCCCCACTCCCTCCGTCTCCTGGTGACGTCTAATCTGCTTTCTGTCTCTATGGATTTGCCTCTTCTATAAAAACTTCCTTTTATATTAAATAACATAGGTCCTATATTAAATAACATAGGACCTTGTGTGTCTGACTTCTTTCACCTAACTTGTTTTCAAGGTTCATCCTAAAAGCTGATTTCCTTTGTAGAAAGAGGGCAAGGGGTATTTCACCAGAACAGTGCTTTCAGGGGACTCGAAGGGAAGAACTTCTTCCCCTCAGGGACTGAGCAGCCCTTCCACATTGGGAACGGTCGTGGAGGTCAGCAGGGAGGACTCTGCATGCGTCATGTTCCGGGAAGTGGGGAGAAGGAACTGTGTCTGCTCACTGCTGTTTCCCAGCCTGTTGCCCTCATCCTGATGCCACTGCTCTGCCTTTTGCAGCGTGACTGTGAGTACTGTCAGTACCATGTCCAGGCTCAGTACAAGAAGCTCAGCGCAAAGCGTGCGGATCTGCAGTCCACCTTCTCTGGAGGACGAATTCCAAAGAAGTTTGCCCGCAGAGGCACCAGCCTCAAAGAACGGCTGTGCCAAGATGGCTTTTACTACGGAGGGGTTTCTTCTGCCTCGTATGCAGCTTCAATGTAAGACGTTCTCGGGCTTCTTTTGGGCAGAGGATTTTGCTTATCAAAGACTAAACCTACTGGTTGTACCTTCCTGTAACCGTCATAGGATACTTGTACAGGTTTTATCTTTCATAACTCACTACTTGAAACAAGTTGGTTAAAGACCGCTTTTATTCCCAGGTAGAGAGAAAAACTTTCAGGAGAGAGAGAGATTGACTTATGTTGTGTTGGACTTTAAGAGAGCCCACTCTTCCTCTTCAACTTTTTTTTTTTTTTTTGAGACGGAGTCTTACTCTATCACCCAGGCTGGAGTGCAGTGGTGCAGTCTCAGCTCACTGCAACCTCCAAGTCCTGGGTTTAGGTGATTCTTCTGCCTCAGCCTCCTGAGTAGCTGGGACTACAGGCGCGTGCCACCACGCCCAGCTAATTTTTGCATTTTTGGTACAGACAGGGTTTCACCATGATGGCCAGGCTGGTCTCGAAATCCTGACCTCAGGTGATCTGCCTGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACTGCTCCCAGCCCCTCTTTGACTTCTAATGTGAATAGTGCACCTTCATCAGGGCCATTAAAAATGTGTTAATTACAGTGTTAACACCCTTTTAATTATTTCTCGTATGACTATATGAGTGAGGCTACAGACCTCATGGAACCCAAATTTCATTCAGTGAGTGAATATACTATGAAGCTTCACATGGGGAGTGGGGCGATGCTGGGCAGGCATCCATGGCCCCTTGCCTGGGGGTTCAGAGTCACTACAGCCCCTGACGCTGTAATCCAGGGGTGTCCAATCTTTTGGCTTCCCTGGGCCCCTTTGGAAGAATTGTCTTGGACTACACATAAAATATATTAATGATAGCCTATAAGCTTAAAAAAAGAAAGAAAAGAAAAGAAAAATCTCTTAATGTTTTAAGAAAGTTTATGAATTTGTGTTGGGCCGCATTCAAAGCCATCCTGGGCTGCATGTGGCCCGCAGGCTATGGTTTGGATAAGCTTGTAATCAGTGGCCTCGTCACTACATTATATAAAGCATATCTGAGGACTTGGCACGAGGCAGCTACAGTTGGTCCAAGAATAAAACATAGATTTTTGTTCCCAATCCAGCAGGAATGGGGCAAGAGGACTCATTTCCTGTTTCTTTTTTAACAGTAAGCATGTTTTTGAGATTTAAAATTATTTCTGAATTTTTCCAATCTGCTAAAACAATACATGTATATTAGTCTTTTAAAAGAACATACAATCCAACCAATGGAGAAAATAAAAACCAACTATAATCCTATCACCTGAAAAACTGTTAGTTCTAGGCCAGGCACAGTGGCTTACACCTGTAATCCCAGCACTTCGGGAGGCCAAGGCAGGAGGATTGCTTAAGCCCAGGAATTTGAGACCCGCCTGAGCGACATGGCAAAACCCCATCTCTACAAAATGCAAAAAAAATTAGCTGGGCATGGTGGCACATGCCTGTAGTCCCAGCTGTTTGGGAGGCTGAGATGGGAGAATTGCTTGAGCCTGGGGAAGTTGAGGCTGCAGTGAGTCAGGATTGCTCCACTGTACTCCAGGCTGGACAACAGAGTGAGATCTTGTCTCAAAAAAAAAACCCCAAACTGTTAGTTCCTTGGTATATATACTCCTAGGTGTTGTGTTTCTTCATATGTGTACATTTTTAGTAATATAAAATGAGATCATATTGTTCCTATTCTTTGTATCCACTTTTTTTCCAGTGTAAAATAATTAATGTTTTTCTCATGTATTTTCAGTGGCTACATAGTGTTCTTTTGCATACTCTGCCTTAATTCATTTAAACAATTCCCTGTGGGTGAACGTTAATGGTGTTTCCAATGTATGACATTATAAACAAAGCTGCCATTAATATCCTAAATTTTTGCATAA
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GAGGCCAGAGAATCACTTGAACCTGGAAGGCAGAGGTTTCAGTGAGCTGAGATCGCACTATTATACTCCAGCCTGGGCGATAGAGTGAGATTCTGTCTCCAAAAAAGAATATAAATAAATAAAGTCAACAATTCAGTAATTTCTAGTACATTCACAGAGCTGTGCAACCATCACCACTGTGTAATTTCAGAACCCTTTCATTGCCCCAGAAAGAAACCCAGTACCCACTAGCAATCACTCCCCAGTCTCCTCTCCCCCAGCCCCTGGTAAGCACTAACCTACTTTCTGTCTCTATGGATTTGCCTCTTCTAGACATTTCATATAATGGAATCACAATATGTGGCCTTTTCTGTCTGGCTTCTTTTGCTTAGCATAATTTTTCTCACAATTGATCCGTGCTGTAGCATTTATCAACACTTTATTCCTTTTTGTGGGTAAATAATATTCCATTGTATGGATATACCATACGTTGTTTATTCTTTCATCAGTTGATACACGCTTGGGTTGTTGCCACATTTAGCTATTATGAATAATGCTGCTAAAACACTCACATACAAGTTTTTATGTGGATGTATGTTTTCCACTCCCTTGGGCATATACCTGGGAGTGGGATTGCTGGGTCAACATGGTAACTGTCCAGAGTTTGGAGGAACTGCCAGACTGGTTTCCCAAGTGGCCCACCAGCAATGGATGAACTTTCCAGTTTCTCCCTGTCCTCATCAGCACCTGTTACTCTATTTCTTTTTTGTTATAGCCATTGTAGTAGGTGTGAAGAGGTACTTCTTAGAGTTCTTTGAAAGGATTAAATGACAGGTTTTGGTTTAATCTTTTTTTATTCCCTTATTCCTTCCTATTAGATTAATTGGTGGACAGGAAAGAATAAGGTGGGAGACGGTTGGAAAATGAGGTTTCAGAGTGAAGTACCCAACAGATCTCCCCGTGAGAATTAGATTCTTAAAAATCCATTGTCTGGATGGGGCGGTGGCTCACACTTGTAATCCCTGCACTTTGGGTGGCCGAAGTGGGCCGATCACTTGAGGCCAGGAGTTCAAGACCAGCCTGGCCAACATGGTAAAACCCCGTCTCCAGTAAAAATACAAAAATTAGCTGGGCGTGGTTGTGCACACCTGTAATCCCAGCTACTTGGGAGGCTGAGGCAGAAGAATCACTTGAACCTAGGAGTTGGAGGTTGCAGTGGGCCAGGATCACGCCACTGCACTCCAGCCTGGGTGACAGAGCGAGACTCTGTCTCCAAAAAAAAATCCATTGTCGCCGTAACTACTGTTCACCCAGCAGAACAATGCTGCACCATCTCTCTTTGTTTCTTTCACTGAAAGGATAGCACTTGTCCGAGGATCAACCAGAGAAACAGCTAGAAAAACCTCGCTGGGAGCTGATTTTGTTTTTAAATTATTTTTTATTGGGTCAAAATTCACAATATACAGTTAATCATTTTAAAATACATATATAATTCAGTGATATTTAGTTGTGTAACCACCAGCTCCCTGGTTTCAGAATTCCATCACCCTGTAAAAACAATGGCACCATAAAGTCATCACTCCCATCCCCACTCCCTCCGTCTCCTGGTGACGTCTAATCTGCTTTCTGTCTCTATGGATTTGCCTCTTCTATAAAAACTTCCTTTTATATTAAATAACATAGGTCCTATATTAAATAACATAGGACCTTGTGTGTCTGACTTCTTTCACCTAACTTGTTTTCAAGGTTCATCCTAAAAGCTGATTTCCTTTGTAGAAAGAGGGCAAGGGGTATTTCACCAGAACAGTGCTTTCAGGGGACTCGAAGGGAAGAACTTCTTCCCCTCAGGGACTGAGCAGCCCTTCCACATTGGGAACGGTCGTGGAGGTCAGCAGGGAGGACTCTGCATGCGTCATGTTCCGGGAAGTGGGGAGAAGGAACTGTGTCTGCTCACTGCTGTTTCCCAGCCTGTTGCCCTCATCCTGATGCCACTGCTCTGCCTTTTGCAGCGTGACTGTGAGTACTGTCAGTACCATGTCCAGGCTCAGTACAAGAAGCTCAGCGCAAAGTGTGCGGATCTGCAGTCCACCTTCTCTGGAGGACGAATTCCAAAGAAGTTTGCCCGCAGAGGCACCAGCCTCAAAGAACGGCTGTGCCAAGATGGCTTTTACTACGGAGGGGTTTCTTCTGCCTCGTATGCAGCTTCAATGTAAGACGTTCTCGGGCTTCTTTTGGGCAGAGGATTTTGCTTATCAAAGACTAAACCTACTGGTTGTACCTTCCTGTAACCGTCATAGGATACTTGTACAGGTTTTATCTTTCATAACTCACTACTTGAAACAAGTTGGTTAAAGACCGCTTTTATTCCCAGGTAGAGAGAAAAACTTTCAGGAGAGAGAGAGATTGACTTATGTTGTGTTGGACTTTAAGAGAGCCCACTCTTCCTCTTCAACTTTTTTTTTTTTTTTTGAGACGGAGTCTTACTCTATCACCCAGGCTGGAGTGCAGTGGTGCAGTCTCAGCTCACTGCAACCTCCAAGTCCTGGGTTTAGGTGATTCTTCTGCCTCAGCCTCCTGAGTAGCTGGGACTACAGGCGCGTGCCACCACGCCCAGCTAATTTTTGCATTTTTGGTACAGACAGGGTTTCACCATGATGGCCAGGCTGGTCTCGAAATCCTGACCTCAGGTGATCTGCCTGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACTGCTCCCAGCCCCTCTTTGACTTCTAATGTGAATAGTGCACCTTCATCAGGGCCATTAAAAATGTGTTAATTACAGTGTTAACACCCTTTTAATTATTTCTCGTATGACTATATGAGTGAGGCTACAGACCTCATGGAACCCAAATTTCATTCAGTGAGTGAATATACTATGAAGCTTCACATGGGGAGTGGGGCGATGCTGGGCAGGCATCCATGGCCCCTTGCCTGGGGGTTCAGAGTCACTACAGCCCCTGACGCTGTAATCCAGGGGTGTCCAATCTTTTGGCTTCCCTGGGCCCCTTTGGAAGAATTGTCTTGGACTACACATAAAATATATTAATGATAGCCTATAAGCTTAAAAAAAGAAAGAAAAGAAAAGAAAAATCTCTTAATGTTTTAAGAAAGTTTATGAATTTGTGTTGGGCCGCATTCAAAGCCATCCTGGGCTGCATGTGGCCCGCAGGCTATGGTTTGGATAAGCTTGTAATCAGTGGCCTCGTCACTACATTATATAAAGCATATCTGAGGACTTGGCACGAGGCAGCTACAGTTGGTCCAAGAATAAAACATAGATTTTTGTTCCCAATCCAGCAGGAATGGGGCAAGAGGACTCATTTCCTGTTTCTTTTTTAACAGTAAGCATGTTTTTGAGATTTAAAATTATTTCTGAATTTTTCCAATCTGCTAAAACAATACATGTATATTAGTCTTTTAAAAGAACATACAATCCAACCAATGGAGAAAATAAAAACCAACTATAATCCTATCACCTGAAAAACTGTTAGTTCTAGGCCAGGCACAGTGGCTTACACCTGTAATCCCAGCACTTCGGGAGGCCAAGGCAGGAGGATTGCTTAAGCCCAGGAATTTGAGACCCGCCTGAGCGACATGGCAAAACCCCATCTCTACAAAATGCAAAAAAAATTAGCTGGGCATGGTGGCACATGCCTGTAGTCCCAGCTGTTTGGGAGGCTGAGATGGGAGAATTGCTTGAGCCTGGGGAAGTTGAGGCTGCAGTGAGTCAGGATTGCTCCACTGTACTCCAGGCTGGACAACAGAGTGAGATCTTGTCTCAAAAAAAAAACCCCAAACTGTTAGTTCCTTGGTATATATACTCCTAGGTGTTGTGTTTCTTCATATGTGTACATTTTTAGTAATATAAAATGAGATCATATTGTTCCTATTCTTTGTATCCACTTTTTTTCCAGTGTAAAATAATTAATGTTTTTCTCATGTATTTTCAGTGGCTACATAGTGTTCTTTTGCATACTCTGCCTTAATTCATTTAAACAATTCCCTGTGGGTGAACGTTAATGGTGTTTCCAATGTATGACATTATAAACAAAGCTGCCATTAATATCCTAAATTTTTGCATAA
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Task1_train_13663
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A variant on Chromosome 10 in gene PHYH (phytanoyl-CoA 2-hydroxylase) has been observed. Is this a neutral mutation, or does it result in a disease? If so, which one?
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Pathogenic; Phytanic acid storage disease
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CCATCTTGGCTCATTGCAACCTCTGCCTCCTGGGTTCAAATGATTCTCCTGCCTCAGCCTCCCAAGTAGCTAGGATTAGAGGCATGTGCCACCACACCCGGCTAATTTTATATTTTTAGTAGAGACGGGGTTTCACCATGTTGGTAAGGCTGGTCTCAAACTCCTGACCTCAGGTGATCCACCCGCCTCAAACACCCAAAGTGCTGGGATTACAGGAGTGAGCCACTGCACCTGGCCTGATGACTCTTATGTTACTTGTCTGAGCCTTTTTGAGTGTTCTACTCTTGATGAGATGATAATAGTGAACATGGTATCAAGGATTACTGCTTTGTTTGGTGGGTTTCTTCCCCCTCTGCCCTTAATAAAATAATTTAGATGTTCTTATTTCTTGGTTCTTGTTTATTTTTGAGCAAACAGCAAGGTATGGTGGAAAGAATAATTTTCAGATTTGACCTGACTCTAAAATCAAGCTTTGTCGCTTAGCTAGCTTAGATCAGCCTCTGGGATTTGTTTTCTTGTCATTGACAGCATGGAGTTTATACTGCCCCACCGGGTTTTGGTGAAGAAAATAAGAAAATGAATATGAATGTGCTTTTGTACTTTACAGAGAACTATGTAGCAGAGGTTAATATTGTTATTCTAAATATAACTTACAGAGTAATTAAACTAAATGTGGGAGGTATTCATTTAGCACAACCTTGACAAACCTCAAACATAATGTACATATATTTGTTCTCCCTTAAAATTTAGGATGTTAGCTCAAAGCTCCAGTTGACAAAATGTATAGGCATTTTAGGTACTGAACAAAAAGTGAGGAAGGACAAGAATTTCTAGGACCTGCAAATGCAAAATCAGAGCATTTTCAGAGATGCGACACATTTCCAGGTTCTAAAGGGAGAAGCAAGATTCCTTCTTTTGTTGTTGTTGAGACAGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCATGATCTCGGCTCACTGCAAGCTCCGCCTCCTGGGTTCACACCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCATGTGCCACCAGACCCAGCTAATTTTTGTATTTTTAGTAGAGACGGGGTTTCACCATGTTGGCCAGGAAGGTCTCGATCTCCTGACCTTGTGATCTGCCTGCTTTGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCTCGCCCAGCCATAAATACTCTATTCTATATTAATAAACATGGCCTATGATTGGATCTCAAACCTATAACTTTCCTTCTATCCCTTCAGAAGGCTTTTTTTTTGACACATGGTCTCACTCTGTCACCCAGGCTGGAGTGCAGTAGTGCAATCAGCTCACTGCAGCCTTGACCTCAAGCTCCAAGTGAGCCTTTCAACTCAGCCTTCGAGTAGCTGGGACTACAGCTATGCTCCACCCAACCTGACTAATTTTTATTTTTATTTCTTTTTTAGTAGAGATGGAGTCTCACTGTGTTTCTCAGGCTGGTCTCCAACTCCTGAGCTCAAGTGATTCTCCTGCTTTGGCTTCCCAAAGTGTTGGGATTTACAGGCATGAGCCACCATGCCCAGCCAGAAGGCAAGGTTTTGTCTTTGATTTTCTCTCATCTCAATCTGTAGTTTTGTTTTCCTTTACTGTCCTGTGTGAAACAGGACAGCCAGCACACCTCTGGACAGCCCCAAGACATAAAGAAGCAGCAGGAAGTTCTCAAGCCTCCTGCACGGGGGCACAAGTGTAAATGGAAATTCCATTGTCATTTTTGGTGGGGGCTCAGCGATGTCCCTAAAATGAATCTAAACCCAAGCACTATATACTGTCAAATAAACTAGGTATGAGAATTATGAAGCATCTGAAGAAAAGAAAAACCTGAGATTTTTACCTTGCTATTGTATACAAACATACCTTCAAGTTCACGCTATTTTCAGCTCCAAAGAATTTATGTGCTATTCCTACAACTTCCTTCTCGATGTTTTCTTGACTGGTGCCCTTCACGTCAATGTAGTGGCAATCGGCACTGGCGAAATGGCAGGAAATTGCCTGTGCAAAGTGAACAAATTGATATTGGAGAAAAACATCCCATGAATACCAGTGACCAAGCAGGGAGTCTTTCTTTTAGAAAGTCATTTATTTCACTCAGTATTTGATTTCTAAGTGGAAAGTCAGGTCCATTGCATCCTGTGTCAATCTCTTTGTAACTAAGCCTGTTTTTGTTTCCAGCTAGAAGTTAATTGAGAAATTTCAAAAGATCGTTAACCAGATGTGACATGTATTTTTGAAAGGTATATATGGGAGAGGGAATGGAATTATGTCAGTAAGAGGTATTTAGTTTTTTTTTTTTTTAGCATTTTATTTTCCTAATGAATGAATATCCCAAAGTCTTAAGAAGGACTGCATTCCACGGCAGTTTATCTCATAAGTTAGTTACCTGGTCCAATTTGGGATGAATTGTTATTTCAGTGGCAATAGATTATGAAAAGAACTAAAAATACCTTGAGATAGAAAATAATGCAGACACCTTCTCTCAAATCAAAAGGACATTTAAAAGCCAATACCAGTGACATATATTACCCCTCTTGCTTCCTTCTGAGGGTAAGGATGAAATTGCTTGGTTCTCCCTATTTTAGAAAAAGTTATAAACAGATCTAAGCTGCAAGGCAATCGTTAAAACTTACCTTTTTTGTCACAAGTGATCACACTTGTCAGAAAGACTTTCTACTTTGCCCCAAACAACAAATTTCTAGGGAGTGGAGTCACAAACTCCATTGCCTCTGTAAGCCCTGGTGCCATACGGCACTGTAACAGAGCCCAAGGCAAAGGGAAAACACGCACCCCTATATCTGTATCTTTATGAAATTATAGTAATATTTTCCCAGAACATTAAAGTCATTAAGCCTGGGCACGGTGGCTCATGCCTGTAATTCCAGTACTCTGGGAGGCCAAGGCAGGAGGATCACTTGAGGCCAGGAGTTCAAGACTCGCCTGGGCAACATAGCAAGACCATGTCTGTACAAAAAATGAAAAAATAAAATTAGCCAGGTGTGGTCATGCATGCCTGTAGTCCCAGCTACTTGAGAGGTTGAGGTGGGAGGATGGCTTGAGCCTCAGTGTTCCAAGATGCAGTGAGCTATGATTGCACCACTGCACTCCAGCCTGGGCAAAAGAGCAAGATGCTGTCTCAAATAAATATATAAACAAATAATAAAATGTTTTAAAATAAAAGCATTAAAAAACATTGGGCCAGGCGAGATGGCTCACATCTGTCATCCTAGCATTTTGGGAGGCCAAGGTGAGACGATCACTCAAGGCCAGGAGTTCGAGACCAGATTGGCCAACCTGGGGAAACCCCATCTCTACTAAAAAATACAAAAATTAGCTGGGCATAGTGGCGTGTGCCTGTAGTCTCAGCTACTCACGAGGCTGAGGCAGGAGAATTGCTTGAACCTGGGAGGCCAAGGTTGCAGTCAGCTGAGATTGCATCACTGCAATCCAGCCTGGGCAACAGAGTGAGACTCCACCTCAAAAAAAAAAAAAAAAGAAAAAAGGAAAATTGCCAAGTCTATATATTAAAACCCACAACATGATTTGTGTCGTTGTGCCTGCACCTCGCTACTTGCACAGCTCTGAAGGTTGTGCTAGTGTGGGGTCCAATAGTGTCTTTTATTTAAACTTTTGGCATTGTGCGCAGCCAATACATTGGGTATTTTGCATTAATTTTGATTTTTTTAAATTTCGCATTAAAATGTTACTAAACTCGATTGCAGAGTCTTTTTTTGGCATCCCCTTACATTTTACCCCTGGAGAGAGTGCCCCAACTTGTCCCACCCTAATCCTGACCCTGATGAGGCTGGTGGAAATATGAATGAATGGAAGACGAAATTTGGCCCCTAACCCATGGCCTCAGGAGACAACAGTGATTTTTTCTTTTTTAGTAGAAGTGGGGTCTCGCCATGTTGCCCAGACTGGTCTAGAGCTCTTGGTCCCAAGTGATCCTCCCGCCTCAGCCTCCGGAAGTGCTGGAATTACAGGCATGAGCCACTGCACCTGGCTTTCATAATCAATTTTTTTTTTTTTTTTTGAGACGGA
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CCATCTTGGCTCATTGCAACCTCTGCCTCCTGGGTTCAAATGATTCTCCTGCCTCAGCCTCCCAAGTAGCTAGGATTAGAGGCATGTGCCACCACACCCGGCTAATTTTATATTTTTAGTAGAGACGGGGTTTCACCATGTTGGTAAGGCTGGTCTCAAACTCCTGACCTCAGGTGATCCACCCGCCTCAAACACCCAAAGTGCTGGGATTACAGGAGTGAGCCACTGCACCTGGCCTGATGACTCTTATGTTACTTGTCTGAGCCTTTTTGAGTGTTCTACTCTTGATGAGATGATAATAGTGAACATGGTATCAAGGATTACTGCTTTGTTTGGTGGGTTTCTTCCCCCTCTGCCCTTAATAAAATAATTTAGATGTTCTTATTTCTTGGTTCTTGTTTATTTTTGAGCAAACAGCAAGGTATGGTGGAAAGAATAATTTTCAGATTTGACCTGACTCTAAAATCAAGCTTTGTCGCTTAGCTAGCTTAGATCAGCCTCTGGGATTTGTTTTCTTGTCATTGACAGCATGGAGTTTATACTGCCCCACCGGGTTTTGGTGAAGAAAATAAGAAAATGAATATGAATGTGCTTTTGTACTTTACAGAGAACTATGTAGCAGAGGTTAATATTGTTATTCTAAATATAACTTACAGAGTAATTAAACTAAATGTGGGAGGTATTCATTTAGCACAACCTTGACAAACCTCAAACATAATGTACATATATTTGTTCTCCCTTAAAATTTAGGATGTTAGCTCAAAGCTCCAGTTGACAAAATGTATAGGCATTTTAGGTACTGAACAAAAAGTGAGGAAGGACAAGAATTTCTAGGACCTGCAAATGCAAAATCAGAGCATTTTCAGAGATGCGACACATTTCCAGGTTCTAAAGGGAGAAGCAAGATTCCTTCTTTTGTTGTTGTTGAGACAGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCATGATCTCGGCTCACTGCAAGCTCCGCCTCCTGGGTTCACACCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCATGTGCCACCAGACCCAGCTAATTTTTGTATTTTTAGTAGAGACGGGGTTTCACCATGTTGGCCAGGAAGGTCTCGATCTCCTGACCTTGTGATCTGCCTGCTTTGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCTCGCCCAGCCATAAATACTCTATTCTATATTAATAAACATGGCCTATGATTGGATCTCAAACCTATAACTTTCCTTCTATCCCTTCAGAAGGCTTTTTTTTTGACACATGGTCTCACTCTGTCACCCAGGCTGGAGTGCAGTAGTGCAATCAGCTCACTGCAGCCTTGACCTCAAGCTCCAAGTGAGCCTTTCAACTCAGCCTTCGAGTAGCTGGGACTACAGCTATGCTCCACCCAACCTGACTAATTTTTATTTTTATTTCTTTTTTAGTAGAGATGGAGTCTCACTGTGTTTCTCAGGCTGGTCTCCAACTCCTGAGCTCAAGTGATTCTCCTGCTTTGGCTTCCCAAAGTGTTGGGATTTACAGGCATGAGCCACCATGCCCAGCCAGAAGGCAAGGTTTTGTCTTTGATTTTCTCTCATCTCAATCTGTAGTTTTGTTTTCCTTTACTGTCCTGTGTGAAACAGGACAGCCAGCACACCTCTGGACAGCCCCAAGACATAAAGAAGCAGCAGGAAGTTCTCAAGCCTCCTGCACGGGGGCACAAGTGTAAATGGAAATTCCATTGTCATTTTTGGTGGGGGCTCAGCGATGTCCCTAAAATGAATCTAAACCCAAGCACTATATACTGTCAAATAAACTAGGTATGAGAATTATGAAGCATCTGAAGAAAAGAAAAACCTGAGATTTTTACCTTGCTATTGTATACAAACATACCTTCAAGTTCACGCTATTTTCAGCTCCAAAGAATTTATGTGCTATTCCTACAACTTCCTTCTCGATGTTTTCTTGACTGGTGCCCTTCACGTCAATGTAGTGGCAATCGGCACTGGCGAAATGGCAGGAAATTTCCTGTGCAAAGTGAACAAATTGATATTGGAGAAAAACATCCCATGAATACCAGTGACCAAGCAGGGAGTCTTTCTTTTAGAAAGTCATTTATTTCACTCAGTATTTGATTTCTAAGTGGAAAGTCAGGTCCATTGCATCCTGTGTCAATCTCTTTGTAACTAAGCCTGTTTTTGTTTCCAGCTAGAAGTTAATTGAGAAATTTCAAAAGATCGTTAACCAGATGTGACATGTATTTTTGAAAGGTATATATGGGAGAGGGAATGGAATTATGTCAGTAAGAGGTATTTAGTTTTTTTTTTTTTTAGCATTTTATTTTCCTAATGAATGAATATCCCAAAGTCTTAAGAAGGACTGCATTCCACGGCAGTTTATCTCATAAGTTAGTTACCTGGTCCAATTTGGGATGAATTGTTATTTCAGTGGCAATAGATTATGAAAAGAACTAAAAATACCTTGAGATAGAAAATAATGCAGACACCTTCTCTCAAATCAAAAGGACATTTAAAAGCCAATACCAGTGACATATATTACCCCTCTTGCTTCCTTCTGAGGGTAAGGATGAAATTGCTTGGTTCTCCCTATTTTAGAAAAAGTTATAAACAGATCTAAGCTGCAAGGCAATCGTTAAAACTTACCTTTTTTGTCACAAGTGATCACACTTGTCAGAAAGACTTTCTACTTTGCCCCAAACAACAAATTTCTAGGGAGTGGAGTCACAAACTCCATTGCCTCTGTAAGCCCTGGTGCCATACGGCACTGTAACAGAGCCCAAGGCAAAGGGAAAACACGCACCCCTATATCTGTATCTTTATGAAATTATAGTAATATTTTCCCAGAACATTAAAGTCATTAAGCCTGGGCACGGTGGCTCATGCCTGTAATTCCAGTACTCTGGGAGGCCAAGGCAGGAGGATCACTTGAGGCCAGGAGTTCAAGACTCGCCTGGGCAACATAGCAAGACCATGTCTGTACAAAAAATGAAAAAATAAAATTAGCCAGGTGTGGTCATGCATGCCTGTAGTCCCAGCTACTTGAGAGGTTGAGGTGGGAGGATGGCTTGAGCCTCAGTGTTCCAAGATGCAGTGAGCTATGATTGCACCACTGCACTCCAGCCTGGGCAAAAGAGCAAGATGCTGTCTCAAATAAATATATAAACAAATAATAAAATGTTTTAAAATAAAAGCATTAAAAAACATTGGGCCAGGCGAGATGGCTCACATCTGTCATCCTAGCATTTTGGGAGGCCAAGGTGAGACGATCACTCAAGGCCAGGAGTTCGAGACCAGATTGGCCAACCTGGGGAAACCCCATCTCTACTAAAAAATACAAAAATTAGCTGGGCATAGTGGCGTGTGCCTGTAGTCTCAGCTACTCACGAGGCTGAGGCAGGAGAATTGCTTGAACCTGGGAGGCCAAGGTTGCAGTCAGCTGAGATTGCATCACTGCAATCCAGCCTGGGCAACAGAGTGAGACTCCACCTCAAAAAAAAAAAAAAAAGAAAAAAGGAAAATTGCCAAGTCTATATATTAAAACCCACAACATGATTTGTGTCGTTGTGCCTGCACCTCGCTACTTGCACAGCTCTGAAGGTTGTGCTAGTGTGGGGTCCAATAGTGTCTTTTATTTAAACTTTTGGCATTGTGCGCAGCCAATACATTGGGTATTTTGCATTAATTTTGATTTTTTTAAATTTCGCATTAAAATGTTACTAAACTCGATTGCAGAGTCTTTTTTTGGCATCCCCTTACATTTTACCCCTGGAGAGAGTGCCCCAACTTGTCCCACCCTAATCCTGACCCTGATGAGGCTGGTGGAAATATGAATGAATGGAAGACGAAATTTGGCCCCTAACCCATGGCCTCAGGAGACAACAGTGATTTTTTCTTTTTTAGTAGAAGTGGGGTCTCGCCATGTTGCCCAGACTGGTCTAGAGCTCTTGGTCCCAAGTGATCCTCCCGCCTCAGCCTCCGGAAGTGCTGGAATTACAGGCATGAGCCACTGCACCTGGCTTTCATAATCAATTTTTTTTTTTTTTTTTGAGACGGA
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Task1_train_13664
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The following genetic variant occurs in PHYH (phytanoyl-CoA 2-hydroxylase) on Chromosome 10. Classify its clinical effect — pathogenic or benign — and list any associated condition.
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Pathogenic; REFSUM DISEASE, ADULT, 1
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AAGGATGAAATTGCTTGGTTCTCCCTATTTTAGAAAAAGTTATAAACAGATCTAAGCTGCAAGGCAATCGTTAAAACTTACCTTTTTTGTCACAAGTGATCACACTTGTCAGAAAGACTTTCTACTTTGCCCCAAACAACAAATTTCTAGGGAGTGGAGTCACAAACTCCATTGCCTCTGTAAGCCCTGGTGCCATACGGCACTGTAACAGAGCCCAAGGCAAAGGGAAAACACGCACCCCTATATCTGTATCTTTATGAAATTATAGTAATATTTTCCCAGAACATTAAAGTCATTAAGCCTGGGCACGGTGGCTCATGCCTGTAATTCCAGTACTCTGGGAGGCCAAGGCAGGAGGATCACTTGAGGCCAGGAGTTCAAGACTCGCCTGGGCAACATAGCAAGACCATGTCTGTACAAAAAATGAAAAAATAAAATTAGCCAGGTGTGGTCATGCATGCCTGTAGTCCCAGCTACTTGAGAGGTTGAGGTGGGAGGATGGCTTGAGCCTCAGTGTTCCAAGATGCAGTGAGCTATGATTGCACCACTGCACTCCAGCCTGGGCAAAAGAGCAAGATGCTGTCTCAAATAAATATATAAACAAATAATAAAATGTTTTAAAATAAAAGCATTAAAAAACATTGGGCCAGGCGAGATGGCTCACATCTGTCATCCTAGCATTTTGGGAGGCCAAGGTGAGACGATCACTCAAGGCCAGGAGTTCGAGACCAGATTGGCCAACCTGGGGAAACCCCATCTCTACTAAAAAATACAAAAATTAGCTGGGCATAGTGGCGTGTGCCTGTAGTCTCAGCTACTCACGAGGCTGAGGCAGGAGAATTGCTTGAACCTGGGAGGCCAAGGTTGCAGTCAGCTGAGATTGCATCACTGCAATCCAGCCTGGGCAACAGAGTGAGACTCCACCTCAAAAAAAAAAAAAAAAGAAAAAAGGAAAATTGCCAAGTCTATATATTAAAACCCACAACATGATTTGTGTCGTTGTGCCTGCACCTCGCTACTTGCACAGCTCTGAAGGTTGTGCTAGTGTGGGGTCCAATAGTGTCTTTTATTTAAACTTTTGGCATTGTGCGCAGCCAATACATTGGGTATTTTGCATTAATTTTGATTTTTTTAAATTTCGCATTAAAATGTTACTAAACTCGATTGCAGAGTCTTTTTTTGGCATCCCCTTACATTTTACCCCTGGAGAGAGTGCCCCAACTTGTCCCACCCTAATCCTGACCCTGATGAGGCTGGTGGAAATATGAATGAATGGAAGACGAAATTTGGCCCCTAACCCATGGCCTCAGGAGACAACAGTGATTTTTTCTTTTTTAGTAGAAGTGGGGTCTCGCCATGTTGCCCAGACTGGTCTAGAGCTCTTGGTCCCAAGTGATCCTCCCGCCTCAGCCTCCGGAAGTGCTGGAATTACAGGCATGAGCCACTGCACCTGGCTTTCATAATCAATTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTGTCGCCCAGGCTGGAGTGCAGTGGCGCGATCTCGGCTCACTGCAGACTCCACCCCCTGGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCGCCCGCCACCTCGCCCAGCTAATTTTTTGTATTTTTAGTAGAGATGGGGTTTCACTGTGTTAGCCAGGATAGTCTCGATCTCCTGACCTCGTGATCCACCCGCCTTGGCCTCCCAAAGTGCTGGGATTATAGGCATGAGCCACCGCGCCCGGCCCATAATCAATATTGACAAGGTTAGGATCCTGAGGTCACCTGGCTTCTTACTGATAAGAGCACAGAAAGCCCAAGGTAAGCAAATATATTTCCTGGTAAATAAACTGGACTAAAGTCCAGGTTGGTTAAAAGCCACAAATCTTTAAAATGTTAATGCAATTTAATTAAAATTTTATTCAATTAATTTGAATTCAATGAATTGAATACAATTTTTGTTTCTAACCCACACTTCTGCAGCAGGTGCAGCAATGTGAATGCTTACCTTCCGGAATCCCTGGGTTTTATTCTGACCAGATCCGTGGATGAGCAAAGGATGGAAGAAAACAGTGTCGCCCTTCTCCATCACCAGGTGCACCCGGGCCTTGTTTTCCTCGTAGTCCTGGATCCCGTGGAACATTTTGTTAACTCCCCCCTAGAACAAGAGGCAAGTGAAGTCTACATTTGAGGGAGTACCATAATTAAAAACATTGTCAATGGTTCATCAGGGAAAGCAAACATCAGGGAAAGAAAGCATTTCTCTCTCCCAAGAGAAATAAATGTCTAAATTAAATGCTTACATTTTTTTCAGTATACAAAAGCCTCTCAGATATCTGGTTTTTAAGAGTCACATTTTGGCCGGGCATGGTGGTTCATGCCTGTAATCCCATCTCTTTGGGAGGCCAAGTTGGGAGAATTGCTTATGCTCAGGAGTTTGAGATCAGCCTGGGCAACATGGCAAAACCCCATCTCTACAAAAACTGCAAAAATTAGCTGGGCGTGGTGGTGCCAGCCTGTGGTCCCAGCTACTCAGGAGGCTGAGGTGGGAGGATCGATTGAGCCGGGAGGGGGAGGTTCCAGTGAGCCATGATCACACCACTGCCCTCCAGCCTGGACAACAGAGCAAGACTCTGTCTCGAAAAATAATGGTAATAAAAAAAAAGAAGTCACATGTTGATATTAAAATCACTGATTTTTTGGAGGAAATGAACAGTGTGGAATTTCCACCTGCCCTTCATGACTGCATTATACATGAAGATCTAGCTTAGCTTTGCCTTTTGTGGTTAATGCAGGCAACCACCTATCTCTTGGGCATTTCCAGCCTGAAACTGTGAGTGTTCCCAGTGTGTTCTCCTCCTCGCCCAGAACTTTAAATAAATCCTTCATCTCTTACTCAGGAGTGTCTCTGAGAAGCTATTTCCCCAAAATAGGGGGGAGAAAATGCTCAATTTTTCTGAGCTCAAAGGCACTTATGTTACATCCAGAATAATGAAAGAATAGTAAATTAAAACACTGTGTTTGTTTGTAACTATTTCCCAAATTAGTTGCTACTTTAGGTAATGCGGTTATGTCTTTATTAAAGAAATTGACATGAGAAGCACCTTAGGAGTCAGGGTAAGGGAAGCAGCCCATTCCTCTTCCTAAGAGCATCCCCAGTTCCTTCTGGGAATGACGACATCCCTCTTAGACAGTGCTGAGACTCTGACCCAGAGCCCTTCTCTCCTGGCCAGGGTGAATGTGTGACCCACACTAAGCTAATCATACCTCCCACTCTGCATCTGAGCAGGGTATCTGAGACTCCACACGCTCTGGAAGCCCTGCAAACTTTTCCCTTTGCCTTCTGTCAGCCAAAGCCCACTGCAGTTGCATGCACCAAACTTTAAACCTTGGCTTCACTGATGAGTTTCACATTAAATGGTTTTATATCAGGATCCAGACACTCACATATTTTCATTTGACACTAATTATTGGTGCAAGAAATCTGAGACGTTCTATTATTATTATTATTGTTATTACTGAGATGGAGTCTTGCTCTGTCGCCCAGGCTGGAGTGCAGTGGTGCGATCTCAGCTCACTGCAACCTCCATCTCCCAGGTTCAGGCAATTCTCCTACCTCAGCCTCCCGAATAGCTGGGAGTACAGGCACACACCACCATGCCTGGCTAATTTTTGTATTTTTAGTAGAAATAGGGCTTCACTATCTTGGCCATGCTGGTCTCAAACTCCTGACCTCAAGTGATCCACCCGCCACGGCCTCCCAAAGTGTTAAGATTATAGGCGTGAGCCACTGTGTCCAGACGAGTTAGGAGTTCCTAAAACCATGTTCCTCATTTCCTATCGAACTACAACTCATTCTCCCTGCTTTAACAATGGGGGCTCTTTCCATTCGCAGCATCATGGGATTCCAGGATCTTTTCTTTTCTTTTTTTTTTTTTTTTGAGATGGAGTCTTGCTTTGTTGCCCAGGCTGGAATGCAGTGGCGCGATCTCAGCTCACTGCAAACTCCACCTCCTGGGTTCAAGCTATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGACTACAGGCGCACGCCACCA
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AAGGATGAAATTGCTTGGTTCTCCCTATTTTAGAAAAAGTTATAAACAGATCTAAGCTGCAAGGCAATCGTTAAAACTTACCTTTTTTGTCACAAGTGATCACACTTGTCAGAAAGACTTTCTACTTTGCCCCAAACAACAAATTTCTAGGGAGTGGAGTCACAAACTCCATTGCCTCTGTAAGCCCTGGTGCCATACGGCACTGTAACAGAGCCCAAGGCAAAGGGAAAACACGCACCCCTATATCTGTATCTTTATGAAATTATAGTAATATTTTCCCAGAACATTAAAGTCATTAAGCCTGGGCACGGTGGCTCATGCCTGTAATTCCAGTACTCTGGGAGGCCAAGGCAGGAGGATCACTTGAGGCCAGGAGTTCAAGACTCGCCTGGGCAACATAGCAAGACCATGTCTGTACAAAAAATGAAAAAATAAAATTAGCCAGGTGTGGTCATGCATGCCTGTAGTCCCAGCTACTTGAGAGGTTGAGGTGGGAGGATGGCTTGAGCCTCAGTGTTCCAAGATGCAGTGAGCTATGATTGCACCACTGCACTCCAGCCTGGGCAAAAGAGCAAGATGCTGTCTCAAATAAATATATAAACAAATAATAAAATGTTTTAAAATAAAAGCATTAAAAAACATTGGGCCAGGCGAGATGGCTCACATCTGTCATCCTAGCATTTTGGGAGGCCAAGGTGAGACGATCACTCAAGGCCAGGAGTTCGAGACCAGATTGGCCAACCTGGGGAAACCCCATCTCTACTAAAAAATACAAAAATTAGCTGGGCATAGTGGCGTGTGCCTGTAGTCTCAGCTACTCACGAGGCTGAGGCAGGAGAATTGCTTGAACCTGGGAGGCCAAGGTTGCAGTCAGCTGAGATTGCATCACTGCAATCCAGCCTGGGCAACAGAGTGAGACTCCACCTCAAAAAAAAAAAAAAAAGAAAAAAGGAAAATTGCCAAGTCTATATATTAAAACCCACAACATGATTTGTGTCGTTGTGCCTGCACCTCGCTACTTGCACAGCTCTGAAGGTTGTGCTAGTGTGGGGTCCAATAGTGTCTTTTATTTAAACTTTTGGCATTGTGCGCAGCCAATACATTGGGTATTTTGCATTAATTTTGATTTTTTTAAATTTCGCATTAAAATGTTACTAAACTCGATTGCAGAGTCTTTTTTTGGCATCCCCTTACATTTTACCCCTGGAGAGAGTGCCCCAACTTGTCCCACCCTAATCCTGACCCTGATGAGGCTGGTGGAAATATGAATGAATGGAAGACGAAATTTGGCCCCTAACCCATGGCCTCAGGAGACAACAGTGATTTTTTCTTTTTTAGTAGAAGTGGGGTCTCGCCATGTTGCCCAGACTGGTCTAGAGCTCTTGGTCCCAAGTGATCCTCCCGCCTCAGCCTCCGGAAGTGCTGGAATTACAGGCATGAGCCACTGCACCTGGCTTTCATAATCAATTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTGTCGCCCAGGCTGGAGTGCAGTGGCGCGATCTCGGCTCACTGCAGACTCCACCCCCTGGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCGCCCGCCACCTCGCCCAGCTAATTTTTTGTATTTTTAGTAGAGATGGGGTTTCACTGTGTTAGCCAGGATAGTCTCGATCTCCTGACCTCGTGATCCACCCGCCTTGGCCTCCCAAAGTGCTGGGATTATAGGCATGAGCCACCGCGCCCGGCCCATAATCAATATTGACAAGGTTAGGATCCTGAGGTCACCTGGCTTCTTACTGATAAGAGCACAGAAAGCCCAAGGTAAGCAAATATATTTCCTGGTAAATAAACTGGACTAAAGTCCAGGTTGGTTAAAAGCCACAAATCTTTAAAATGTTAATGCAATTTAATTAAAATTTTATTCAATTAATTTGAATTCAATGAATTGAATACAATTTTTGTTTCTAACCCACACTTCTGCAGCAGGTGCAGCAATGTGAATGCTTACCTTCCGGAATCCCTGGGTTTTATGCTGACCAGATCCGTGGATGAGCAAAGGATGGAAGAAAACAGTGTCGCCCTTCTCCATCACCAGGTGCACCCGGGCCTTGTTTTCCTCGTAGTCCTGGATCCCGTGGAACATTTTGTTAACTCCCCCCTAGAACAAGAGGCAAGTGAAGTCTACATTTGAGGGAGTACCATAATTAAAAACATTGTCAATGGTTCATCAGGGAAAGCAAACATCAGGGAAAGAAAGCATTTCTCTCTCCCAAGAGAAATAAATGTCTAAATTAAATGCTTACATTTTTTTCAGTATACAAAAGCCTCTCAGATATCTGGTTTTTAAGAGTCACATTTTGGCCGGGCATGGTGGTTCATGCCTGTAATCCCATCTCTTTGGGAGGCCAAGTTGGGAGAATTGCTTATGCTCAGGAGTTTGAGATCAGCCTGGGCAACATGGCAAAACCCCATCTCTACAAAAACTGCAAAAATTAGCTGGGCGTGGTGGTGCCAGCCTGTGGTCCCAGCTACTCAGGAGGCTGAGGTGGGAGGATCGATTGAGCCGGGAGGGGGAGGTTCCAGTGAGCCATGATCACACCACTGCCCTCCAGCCTGGACAACAGAGCAAGACTCTGTCTCGAAAAATAATGGTAATAAAAAAAAAGAAGTCACATGTTGATATTAAAATCACTGATTTTTTGGAGGAAATGAACAGTGTGGAATTTCCACCTGCCCTTCATGACTGCATTATACATGAAGATCTAGCTTAGCTTTGCCTTTTGTGGTTAATGCAGGCAACCACCTATCTCTTGGGCATTTCCAGCCTGAAACTGTGAGTGTTCCCAGTGTGTTCTCCTCCTCGCCCAGAACTTTAAATAAATCCTTCATCTCTTACTCAGGAGTGTCTCTGAGAAGCTATTTCCCCAAAATAGGGGGGAGAAAATGCTCAATTTTTCTGAGCTCAAAGGCACTTATGTTACATCCAGAATAATGAAAGAATAGTAAATTAAAACACTGTGTTTGTTTGTAACTATTTCCCAAATTAGTTGCTACTTTAGGTAATGCGGTTATGTCTTTATTAAAGAAATTGACATGAGAAGCACCTTAGGAGTCAGGGTAAGGGAAGCAGCCCATTCCTCTTCCTAAGAGCATCCCCAGTTCCTTCTGGGAATGACGACATCCCTCTTAGACAGTGCTGAGACTCTGACCCAGAGCCCTTCTCTCCTGGCCAGGGTGAATGTGTGACCCACACTAAGCTAATCATACCTCCCACTCTGCATCTGAGCAGGGTATCTGAGACTCCACACGCTCTGGAAGCCCTGCAAACTTTTCCCTTTGCCTTCTGTCAGCCAAAGCCCACTGCAGTTGCATGCACCAAACTTTAAACCTTGGCTTCACTGATGAGTTTCACATTAAATGGTTTTATATCAGGATCCAGACACTCACATATTTTCATTTGACACTAATTATTGGTGCAAGAAATCTGAGACGTTCTATTATTATTATTATTGTTATTACTGAGATGGAGTCTTGCTCTGTCGCCCAGGCTGGAGTGCAGTGGTGCGATCTCAGCTCACTGCAACCTCCATCTCCCAGGTTCAGGCAATTCTCCTACCTCAGCCTCCCGAATAGCTGGGAGTACAGGCACACACCACCATGCCTGGCTAATTTTTGTATTTTTAGTAGAAATAGGGCTTCACTATCTTGGCCATGCTGGTCTCAAACTCCTGACCTCAAGTGATCCACCCGCCACGGCCTCCCAAAGTGTTAAGATTATAGGCGTGAGCCACTGTGTCCAGACGAGTTAGGAGTTCCTAAAACCATGTTCCTCATTTCCTATCGAACTACAACTCATTCTCCCTGCTTTAACAATGGGGGCTCTTTCCATTCGCAGCATCATGGGATTCCAGGATCTTTTCTTTTCTTTTTTTTTTTTTTTTGAGATGGAGTCTTGCTTTGTTGCCCAGGCTGGAATGCAGTGGCGCGATCTCAGCTCACTGCAAACTCCACCTCCTGGGTTCAAGCTATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGACTACAGGCGCACGCCACCA
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Task1_train_13665
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A variant on Chromosome 10 in gene PHYH (phytanoyl-CoA 2-hydroxylase) has been observed. Is this a neutral mutation, or does it result in a disease? If so, which one?
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Pathogenic; Phytanic acid storage disease
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GTGCAGCCATGCAATGGAATACTACTCAGCAAGGGAAGGGAAAGAACTACTGTTGGCCAGGCGCGGTGAGCCCAGCACTTTGGGAGGCCGAGGCAGGCAGATCACGAAGTCAGGAGATCGAGACCATCCTGGCCAACATAGTGAAAACTCGTCTCTACTAAAAATATAAAAATTAGCTGAGCATGGTGGCTTGTGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAAAATTGCTGGAACAAGGGAGTCGGAGGTTGCAGTGAGCCAAGATCGTGCCACTGCACTCCAGCCTGGTGACAGAGTGAGACTCTGTCTCAAAAAAAAAAAAAAAAACAACAAAAAACTACTATCATACACAACAGCATCAATGAACCTCAAAATCACTACACTGAGTGAAGGAAGCCAGAACGGGACAAAAAAATCTATACTATGTGATTACATGTCTATGACATTTTAGAAAATGCAAACTAACCTGCAGTAACAGAAAGCAGCTCAGTGGTTGCCTAGAGCAGGGAGAAGGATGGAGTATCTTGATTGTGGTGATGATTTCACAGGTATGTGTGTGTGGAAAATGATCAAATTATACATGCAAAATATGTACAATTTACATGACAATTATACCTCAATGAAACTGTTTATTTGTTTAATTGTTTGTTTTTTAATTAAAAGCTCTTCAGCCAGGTGTGGTGGCTCACGCCTGTAATCCTAGCACTTTGGGAGGCAGAGGTGGGCGGATCACGAGTTAAAGAGATCAGGACCATCCTGGCCAACATAGTGAAATCCCGTCTCTACTAAAAATACAAAAATTAGCTGGGTGTGGTGGTGCGCGCCTATAATCCCAGCTACTCGGGAGTCTGAGGCAGGAGAATCACCTGAACCCAGGAGGCAGAGGTTGCAGTGAGCCGAGAACGTGCCATTACACTCTAGCCTGGTGACAGAGTGAGACTCCTCAAAAACAAAACAAAACAAAACACAACAAAAAAACAAAAAGGGTCTTCGATCTTCCTAAAAGTTTGAACTAAAAAGTTCCCATTCTTCCCCCAAATAAACTGCAGACTTGTTAGTAAAACAGTCTTTTCTAATCTGGTCCTAATGTACATTTTTGGGCTCACCTCCTCTGCTGCTCCCCAAAATACACCCCCAGCGCCCAGCCCATCTAGACTGCAAGCTCCCTGGGTCTTTCCTGTTCTTTGGTCAAGTTCAGGCTTGCCCTTGACCTTGTGCCTTCCTATATCGACTCTTCCCTATGGGACATTGTACACTGTCCTGCAAGGCTCAGGTCAGACACCAGCCTCCCCAGATCCTTTGCTGGTCTCTGCAGTTGCAAGGAGACAATCTCTCCTTCCTTACTCTGAGAGCCATCAGTTAGTGAGTAAGACTGACTTGGTGTCTACCACACACATCTGGGGTCGAAGGGTTTATGTCTTACCTCTGCAGCTAGGACTTACAATCTCGGATCCTATACAGTACCTACCCAAGCTCCCCACCTTGGCTGGCTTTCAAACACGTGTTAAGGGCAGGTACAGTGGCTCATGCCTTTAATCCCAGCACTTAGGGAGGCCGAGGTGAACAGATCACCTGAGGTCAGGAGTTCAAGACCAGCCTGGCCAACATGGCAAAACCCTGTCTTTACTAAAACCACAAAAATTAGCCGGGCGTGGTGGTGCACACCCGTAGTCCCAGCTACTAGGGCGACTGAGGCGGGAGGATGGCTTGAACCTGGGAGTTGGAGGTTGCAGTGAGTTGAGCAAGACCCTGTCTCAAAAACAAACAAACAAAAAAAGTGTTGAAAATAGGTGTGATGAATGTTTTCTCTGACATCCTTGAACTTTCTCTGATCCTCACTGCAAATCTTAGGACAATGTTTTGCTCAGAAAGGAAATGCCATCTCATTTGTAAACTCTTTAGAGGTACTGATGTGAAACAGAAACTGCGAAGGAGATTCGGATCAAGACTCAGCCGCCGGGCAGACCTACCTCCCACTTGGGGTAATCGTGGGGCTTCAGGGAGCCCTTGTGTGTGCCTGGGAGCACAACCAGACAGCCGTTGTTCCGGCTGATGTGCTCCATCGCCGTCCAGGCGCAAACGATGAGATCGCTGGGCCTGAAGGGGAAATAGTGCAGGTCCTGGTGCAGGGGGTGACGGGACGTCTTCTTGCCTGAAAAGAAAACCTGCTACTAAAGGATACTCGAGGCCGAGTGCAGTGGCTCACGCCTGTAACCCCAGCACTTTGGGATATAAAAATATATCCCAAAGTGGGAGGCTGAGGCAGATGGATGGCTTGAGCCTGGGAGTTCAAAACCATCCCGGGAAACACAGTGAGACTCCGTTTCTACAGAAAACAAAACAACAAAACAAAACAAAACAACAAAAACAACTAGCCGGGTGTGGTGGCATGCACCTGTAGTCACAGCTACTTGGGAGGCTGAGGTGGGAGGATCACCTGAGCCTGGAGGTCGAGGCTGCAGTGAGCTATGATTGCACTGCTGCATTACAGCCTGGGTGACAGAGAGCGAGTCCCTGTCCCCCACCCCCAACCAAAAAAAAAAAAAAAAAAAAAAAAAAGCTGGTCTCAGAATTCTTATCCTTTGCCTGAAAAAACAATGACCTGTCCCCAGAAGAACCAAACAAATGAAATAATGCTAGAGAAAATCAGCCCCGGAGAGATAAACACCAAATTGGAAATCAACACACTGGCTCCACATCTTCAAATCCCGCACTCCCTTCTTCCGGGTTGCTGGTAGCTAAGTACTTATGCACACTATTTTCCAGCAAGCGGTATAACATCCTCATCTCTGTTGTGCTTTATTCTTTGTTGTTATTGTTTTTTGAGACGGAGTCTTGTTCTGCTGCCCAGGCTGGAGTGCAGTGACGCGATCTCGGCTCACTGCAAGCTCCGCCTCCCAGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCGCCCGCCACCACGCCCGGCTAATTTTTTGTATTTTTAGTAGAGACGGGGTTTCACTGTGTTAGCCAGGATGGTCTTGATCTCCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTCCAGGCGTGAGCCACCACGCCCGGCCTTGTGCTTTATTCTTTTGTGACCCTGGATTGGGCACAGTACCTAGCATGCAGTAATGCATGTTCAAAAACCAGTTGCATTAATTACATTGAAGAGAGTGATATGGAGTCAAGTTTGAAATCCCCTTTGAAGTGGCTGATGTCAAAAAAAGTTCTAAGCCACGTGTAGTGGCTCACACCTGTAATCCCAGCACCTTGGGAGGCTGAGGCAGGCAGCTCTCTTGAGGTCAGGAATTTGAGACCAGCCTGGCCAACATGATGAAACCTCGTCTCTACAAAAATACAAAAATTAACTGGGCATGGTGGTGCACACCAGTACTCCCAGCTACTTGGAAGGCTGAGGGCTGAGGCAGGAGAATCGCTTGAACCCAGGAGGCAGCAGGTTGCAGTGAGTCAAGATCGCACCACTGCACTCCAGCCTAGGCGACAGAGTGAGACTCTGTCTCAAAAAAAAAAAAAAAAGAAAAGAAAAAGAAAAAAAAACACACAAAACAGGACGGGCACGGTGGCTCACGCCGGTAATCCCAGCACTTTGGGAGGCTGAGCCGGGTAGATTGCCTGAGGTCAGGAGTTCGAGACCAGCCTGACCAACATGGTGAAACCCTGTCTCTACTAAAAATACCAAAAAAAAAAAAAAAAAAAAAAAAAAAAAATTAGCTGGGTGTGGTGGTGGGCACCTGTAATCCCAGCTATTCAGGAGGATGAGGCAGGAGAATCACTCAAACCCCAGAGGCAGAGGTTGCAGTAAGCCGAGATTGAGCCACTGCACTCCAGCCTGGGCAACAGAGCAAGACTCCATTTCAAAAAAAATAAAAATAAAAAAAGTTATCTAAGAGGTCCTCACCCCCCACAACTATAGTCATTCCATGTCCAGTCGGAGTGCCCATGACCACACTGACATTTTCCCCTGGTTTGCTCCCTGAGTGTGGCTCCCGAACACCTGCTCTCCTCAAGGAGGGAGAGACCTGGTAATGCTAAGCTGC
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GTGCAGCCATGCAATGGAATACTACTCAGCAAGGGAAGGGAAAGAACTACTGTTGGCCAGGCGCGGTGAGCCCAGCACTTTGGGAGGCCGAGGCAGGCAGATCACGAAGTCAGGAGATCGAGACCATCCTGGCCAACATAGTGAAAACTCGTCTCTACTAAAAATATAAAAATTAGCTGAGCATGGTGGCTTGTGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAAAATTGCTGGAACAAGGGAGTCGGAGGTTGCAGTGAGCCAAGATCGTGCCACTGCACTCCAGCCTGGTGACAGAGTGAGACTCTGTCTCAAAAAAAAAAAAAAAAACAACAAAAAACTACTATCATACACAACAGCATCAATGAACCTCAAAATCACTACACTGAGTGAAGGAAGCCAGAACGGGACAAAAAAATCTATACTATGTGATTACATGTCTATGACATTTTAGAAAATGCAAACTAACCTGCAGTAACAGAAAGCAGCTCAGTGGTTGCCTAGAGCAGGGAGAAGGATGGAGTATCTTGATTGTGGTGATGATTTCACAGGTATGTGTGTGTGGAAAATGATCAAATTATACATGCAAAATATGTACAATTTACATGACAATTATACCTCAATGAAACTGTTTATTTGTTTAATTGTTTGTTTTTTAATTAAAAGCTCTTCAGCCAGGTGTGGTGGCTCACGCCTGTAATCCTAGCACTTTGGGAGGCAGAGGTGGGCGGATCACGAGTTAAAGAGATCAGGACCATCCTGGCCAACATAGTGAAATCCCGTCTCTACTAAAAATACAAAAATTAGCTGGGTGTGGTGGTGCGCGCCTATAATCCCAGCTACTCGGGAGTCTGAGGCAGGAGAATCACCTGAACCCAGGAGGCAGAGGTTGCAGTGAGCCGAGAACGTGCCATTACACTCTAGCCTGGTGACAGAGTGAGACTCCTCAAAAACAAAACAAAACAAAACACAACAAAAAAACAAAAAGGGTCTTCGATCTTCCTAAAAGTTTGAACTAAAAAGTTCCCATTCTTCCCCCAAATAAACTGCAGACTTGTTAGTAAAACAGTCTTTTCTAATCTGGTCCTAATGTACATTTTTGGGCTCACCTCCTCTGCTGCTCCCCAAAATACACCCCCAGCGCCCAGCCCATCTAGACTGCAAGCTCCCTGGGTCTTTCCTGTTCTTTGGTCAAGTTCAGGCTTGCCCTTGACCTTGTGCCTTCCTATATCGACTCTTCCCTATGGGACATTGTACACTGTCCTGCAAGGCTCAGGTCAGACACCAGCCTCCCCAGATCCTTTGCTGGTCTCTGCAGTTGCAAGGAGACAATCTCTCCTTCCTTACTCTGAGAGCCATCAGTTAGTGAGTAAGACTGACTTGGTGTCTACCACACACATCTGGGGTCGAAGGGTTTATGTCTTACCTCTGCAGCTAGGACTTACAATCTCGGATCCTATACAGTACCTACCCAAGCTCCCCACCTTGGCTGGCTTTCAAACACGTGTTAAGGGCAGGTACAGTGGCTCATGCCTTTAATCCCAGCACTTAGGGAGGCCGAGGTGAACAGATCACCTGAGGTCAGGAGTTCAAGACCAGCCTGGCCAACATGGCAAAACCCTGTCTTTACTAAAACCACAAAAATTAGCCGGGCGTGGTGGTGCACACCCGTAGTCCCAGCTACTAGGGCGACTGAGGCGGGAGGATGGCTTGAACCTGGGAGTTGGAGGTTGCAGTGAGTTGAGCAAGACCCTGTCTCAAAAACAAACAAACAAAAAAAGTGTTGAAAATAGGTGTGATGAATGTTTTCTCTGACATCCTTGAACTTTCTCTGATCCTCACTGCAAATCTTAGGACAATGTTTTGCTCAGAAAGGAAATGCCATCTCATTTGTAAACTCTTTAGAGGTACTGATGTGAAACAGAAACTGCGAAGGAGATTCGGATCAAGACTCAGCCGCCGGGCAGACCTACCTCCCACTTGGGGTAATCGTGGGGCTTCAGGGAGCCCTTGTGTGTGCCTGGGAGCACAACCAGACAGCTGTTGTTCCGGCTGATGTGCTCCATCGCCGTCCAGGCGCAAACGATGAGATCGCTGGGCCTGAAGGGGAAATAGTGCAGGTCCTGGTGCAGGGGGTGACGGGACGTCTTCTTGCCTGAAAAGAAAACCTGCTACTAAAGGATACTCGAGGCCGAGTGCAGTGGCTCACGCCTGTAACCCCAGCACTTTGGGATATAAAAATATATCCCAAAGTGGGAGGCTGAGGCAGATGGATGGCTTGAGCCTGGGAGTTCAAAACCATCCCGGGAAACACAGTGAGACTCCGTTTCTACAGAAAACAAAACAACAAAACAAAACAAAACAACAAAAACAACTAGCCGGGTGTGGTGGCATGCACCTGTAGTCACAGCTACTTGGGAGGCTGAGGTGGGAGGATCACCTGAGCCTGGAGGTCGAGGCTGCAGTGAGCTATGATTGCACTGCTGCATTACAGCCTGGGTGACAGAGAGCGAGTCCCTGTCCCCCACCCCCAACCAAAAAAAAAAAAAAAAAAAAAAAAAAGCTGGTCTCAGAATTCTTATCCTTTGCCTGAAAAAACAATGACCTGTCCCCAGAAGAACCAAACAAATGAAATAATGCTAGAGAAAATCAGCCCCGGAGAGATAAACACCAAATTGGAAATCAACACACTGGCTCCACATCTTCAAATCCCGCACTCCCTTCTTCCGGGTTGCTGGTAGCTAAGTACTTATGCACACTATTTTCCAGCAAGCGGTATAACATCCTCATCTCTGTTGTGCTTTATTCTTTGTTGTTATTGTTTTTTGAGACGGAGTCTTGTTCTGCTGCCCAGGCTGGAGTGCAGTGACGCGATCTCGGCTCACTGCAAGCTCCGCCTCCCAGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCGCCCGCCACCACGCCCGGCTAATTTTTTGTATTTTTAGTAGAGACGGGGTTTCACTGTGTTAGCCAGGATGGTCTTGATCTCCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTCCAGGCGTGAGCCACCACGCCCGGCCTTGTGCTTTATTCTTTTGTGACCCTGGATTGGGCACAGTACCTAGCATGCAGTAATGCATGTTCAAAAACCAGTTGCATTAATTACATTGAAGAGAGTGATATGGAGTCAAGTTTGAAATCCCCTTTGAAGTGGCTGATGTCAAAAAAAGTTCTAAGCCACGTGTAGTGGCTCACACCTGTAATCCCAGCACCTTGGGAGGCTGAGGCAGGCAGCTCTCTTGAGGTCAGGAATTTGAGACCAGCCTGGCCAACATGATGAAACCTCGTCTCTACAAAAATACAAAAATTAACTGGGCATGGTGGTGCACACCAGTACTCCCAGCTACTTGGAAGGCTGAGGGCTGAGGCAGGAGAATCGCTTGAACCCAGGAGGCAGCAGGTTGCAGTGAGTCAAGATCGCACCACTGCACTCCAGCCTAGGCGACAGAGTGAGACTCTGTCTCAAAAAAAAAAAAAAAAGAAAAGAAAAAGAAAAAAAAACACACAAAACAGGACGGGCACGGTGGCTCACGCCGGTAATCCCAGCACTTTGGGAGGCTGAGCCGGGTAGATTGCCTGAGGTCAGGAGTTCGAGACCAGCCTGACCAACATGGTGAAACCCTGTCTCTACTAAAAATACCAAAAAAAAAAAAAAAAAAAAAAAAAAAAAATTAGCTGGGTGTGGTGGTGGGCACCTGTAATCCCAGCTATTCAGGAGGATGAGGCAGGAGAATCACTCAAACCCCAGAGGCAGAGGTTGCAGTAAGCCGAGATTGAGCCACTGCACTCCAGCCTGGGCAACAGAGCAAGACTCCATTTCAAAAAAAATAAAAATAAAAAAAGTTATCTAAGAGGTCCTCACCCCCCACAACTATAGTCATTCCATGTCCAGTCGGAGTGCCCATGACCACACTGACATTTTCCCCTGGTTTGCTCCCTGAGTGTGGCTCCCGAACACCTGCTCTCCTCAAGGAGGGAGAGACCTGGTAATGCTAAGCTGC
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Task1_train_13666
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This sequence variant lies in PHYH (phytanoyl-CoA 2-hydroxylase) on Chromosome 10. Is it clinically significant, and what condition might it cause if any?
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Pathogenic; REFSUM DISEASE, ADULT, 1
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AGGCCGAGGCAGGCAGATCACGAAGTCAGGAGATCGAGACCATCCTGGCCAACATAGTGAAAACTCGTCTCTACTAAAAATATAAAAATTAGCTGAGCATGGTGGCTTGTGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAAAATTGCTGGAACAAGGGAGTCGGAGGTTGCAGTGAGCCAAGATCGTGCCACTGCACTCCAGCCTGGTGACAGAGTGAGACTCTGTCTCAAAAAAAAAAAAAAAAACAACAAAAAACTACTATCATACACAACAGCATCAATGAACCTCAAAATCACTACACTGAGTGAAGGAAGCCAGAACGGGACAAAAAAATCTATACTATGTGATTACATGTCTATGACATTTTAGAAAATGCAAACTAACCTGCAGTAACAGAAAGCAGCTCAGTGGTTGCCTAGAGCAGGGAGAAGGATGGAGTATCTTGATTGTGGTGATGATTTCACAGGTATGTGTGTGTGGAAAATGATCAAATTATACATGCAAAATATGTACAATTTACATGACAATTATACCTCAATGAAACTGTTTATTTGTTTAATTGTTTGTTTTTTAATTAAAAGCTCTTCAGCCAGGTGTGGTGGCTCACGCCTGTAATCCTAGCACTTTGGGAGGCAGAGGTGGGCGGATCACGAGTTAAAGAGATCAGGACCATCCTGGCCAACATAGTGAAATCCCGTCTCTACTAAAAATACAAAAATTAGCTGGGTGTGGTGGTGCGCGCCTATAATCCCAGCTACTCGGGAGTCTGAGGCAGGAGAATCACCTGAACCCAGGAGGCAGAGGTTGCAGTGAGCCGAGAACGTGCCATTACACTCTAGCCTGGTGACAGAGTGAGACTCCTCAAAAACAAAACAAAACAAAACACAACAAAAAAACAAAAAGGGTCTTCGATCTTCCTAAAAGTTTGAACTAAAAAGTTCCCATTCTTCCCCCAAATAAACTGCAGACTTGTTAGTAAAACAGTCTTTTCTAATCTGGTCCTAATGTACATTTTTGGGCTCACCTCCTCTGCTGCTCCCCAAAATACACCCCCAGCGCCCAGCCCATCTAGACTGCAAGCTCCCTGGGTCTTTCCTGTTCTTTGGTCAAGTTCAGGCTTGCCCTTGACCTTGTGCCTTCCTATATCGACTCTTCCCTATGGGACATTGTACACTGTCCTGCAAGGCTCAGGTCAGACACCAGCCTCCCCAGATCCTTTGCTGGTCTCTGCAGTTGCAAGGAGACAATCTCTCCTTCCTTACTCTGAGAGCCATCAGTTAGTGAGTAAGACTGACTTGGTGTCTACCACACACATCTGGGGTCGAAGGGTTTATGTCTTACCTCTGCAGCTAGGACTTACAATCTCGGATCCTATACAGTACCTACCCAAGCTCCCCACCTTGGCTGGCTTTCAAACACGTGTTAAGGGCAGGTACAGTGGCTCATGCCTTTAATCCCAGCACTTAGGGAGGCCGAGGTGAACAGATCACCTGAGGTCAGGAGTTCAAGACCAGCCTGGCCAACATGGCAAAACCCTGTCTTTACTAAAACCACAAAAATTAGCCGGGCGTGGTGGTGCACACCCGTAGTCCCAGCTACTAGGGCGACTGAGGCGGGAGGATGGCTTGAACCTGGGAGTTGGAGGTTGCAGTGAGTTGAGCAAGACCCTGTCTCAAAAACAAACAAACAAAAAAAGTGTTGAAAATAGGTGTGATGAATGTTTTCTCTGACATCCTTGAACTTTCTCTGATCCTCACTGCAAATCTTAGGACAATGTTTTGCTCAGAAAGGAAATGCCATCTCATTTGTAAACTCTTTAGAGGTACTGATGTGAAACAGAAACTGCGAAGGAGATTCGGATCAAGACTCAGCCGCCGGGCAGACCTACCTCCCACTTGGGGTAATCGTGGGGCTTCAGGGAGCCCTTGTGTGTGCCTGGGAGCACAACCAGACAGCCGTTGTTCCGGCTGATGTGCTCCATCGCCGTCCAGGCGCAAACGATGAGATCGCTGGGCCTGAAGGGGAAATAGTGCAGGTCCTGGTGCAGGGGGTGACGGGACGTCTTCTTGCCTGAAAAGAAAACCTGCTACTAAAGGATACTCGAGGCCGAGTGCAGTGGCTCACGCCTGTAACCCCAGCACTTTGGGATATAAAAATATATCCCAAAGTGGGAGGCTGAGGCAGATGGATGGCTTGAGCCTGGGAGTTCAAAACCATCCCGGGAAACACAGTGAGACTCCGTTTCTACAGAAAACAAAACAACAAAACAAAACAAAACAACAAAAACAACTAGCCGGGTGTGGTGGCATGCACCTGTAGTCACAGCTACTTGGGAGGCTGAGGTGGGAGGATCACCTGAGCCTGGAGGTCGAGGCTGCAGTGAGCTATGATTGCACTGCTGCATTACAGCCTGGGTGACAGAGAGCGAGTCCCTGTCCCCCACCCCCAACCAAAAAAAAAAAAAAAAAAAAAAAAAAGCTGGTCTCAGAATTCTTATCCTTTGCCTGAAAAAACAATGACCTGTCCCCAGAAGAACCAAACAAATGAAATAATGCTAGAGAAAATCAGCCCCGGAGAGATAAACACCAAATTGGAAATCAACACACTGGCTCCACATCTTCAAATCCCGCACTCCCTTCTTCCGGGTTGCTGGTAGCTAAGTACTTATGCACACTATTTTCCAGCAAGCGGTATAACATCCTCATCTCTGTTGTGCTTTATTCTTTGTTGTTATTGTTTTTTGAGACGGAGTCTTGTTCTGCTGCCCAGGCTGGAGTGCAGTGACGCGATCTCGGCTCACTGCAAGCTCCGCCTCCCAGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCGCCCGCCACCACGCCCGGCTAATTTTTTGTATTTTTAGTAGAGACGGGGTTTCACTGTGTTAGCCAGGATGGTCTTGATCTCCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTCCAGGCGTGAGCCACCACGCCCGGCCTTGTGCTTTATTCTTTTGTGACCCTGGATTGGGCACAGTACCTAGCATGCAGTAATGCATGTTCAAAAACCAGTTGCATTAATTACATTGAAGAGAGTGATATGGAGTCAAGTTTGAAATCCCCTTTGAAGTGGCTGATGTCAAAAAAAGTTCTAAGCCACGTGTAGTGGCTCACACCTGTAATCCCAGCACCTTGGGAGGCTGAGGCAGGCAGCTCTCTTGAGGTCAGGAATTTGAGACCAGCCTGGCCAACATGATGAAACCTCGTCTCTACAAAAATACAAAAATTAACTGGGCATGGTGGTGCACACCAGTACTCCCAGCTACTTGGAAGGCTGAGGGCTGAGGCAGGAGAATCGCTTGAACCCAGGAGGCAGCAGGTTGCAGTGAGTCAAGATCGCACCACTGCACTCCAGCCTAGGCGACAGAGTGAGACTCTGTCTCAAAAAAAAAAAAAAAAGAAAAGAAAAAGAAAAAAAAACACACAAAACAGGACGGGCACGGTGGCTCACGCCGGTAATCCCAGCACTTTGGGAGGCTGAGCCGGGTAGATTGCCTGAGGTCAGGAGTTCGAGACCAGCCTGACCAACATGGTGAAACCCTGTCTCTACTAAAAATACCAAAAAAAAAAAAAAAAAAAAAAAAAAAAAATTAGCTGGGTGTGGTGGTGGGCACCTGTAATCCCAGCTATTCAGGAGGATGAGGCAGGAGAATCACTCAAACCCCAGAGGCAGAGGTTGCAGTAAGCCGAGATTGAGCCACTGCACTCCAGCCTGGGCAACAGAGCAAGACTCCATTTCAAAAAAAATAAAAATAAAAAAAGTTATCTAAGAGGTCCTCACCCCCCACAACTATAGTCATTCCATGTCCAGTCGGAGTGCCCATGACCACACTGACATTTTCCCCTGGTTTGCTCCCTGAGTGTGGCTCCCGAACACCTGCTCTCCTCAAGGAGGGAGAGACCTGGTAATGCTAAGCTGCCTTCTATCACATAAACCCCTCCTGCAGATCAGAAGGAAGAAAAGGCAGAAAGGATAGGGGGACTCTCTCATGGCTGATTTTTAC
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AGGCCGAGGCAGGCAGATCACGAAGTCAGGAGATCGAGACCATCCTGGCCAACATAGTGAAAACTCGTCTCTACTAAAAATATAAAAATTAGCTGAGCATGGTGGCTTGTGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAAAATTGCTGGAACAAGGGAGTCGGAGGTTGCAGTGAGCCAAGATCGTGCCACTGCACTCCAGCCTGGTGACAGAGTGAGACTCTGTCTCAAAAAAAAAAAAAAAAACAACAAAAAACTACTATCATACACAACAGCATCAATGAACCTCAAAATCACTACACTGAGTGAAGGAAGCCAGAACGGGACAAAAAAATCTATACTATGTGATTACATGTCTATGACATTTTAGAAAATGCAAACTAACCTGCAGTAACAGAAAGCAGCTCAGTGGTTGCCTAGAGCAGGGAGAAGGATGGAGTATCTTGATTGTGGTGATGATTTCACAGGTATGTGTGTGTGGAAAATGATCAAATTATACATGCAAAATATGTACAATTTACATGACAATTATACCTCAATGAAACTGTTTATTTGTTTAATTGTTTGTTTTTTAATTAAAAGCTCTTCAGCCAGGTGTGGTGGCTCACGCCTGTAATCCTAGCACTTTGGGAGGCAGAGGTGGGCGGATCACGAGTTAAAGAGATCAGGACCATCCTGGCCAACATAGTGAAATCCCGTCTCTACTAAAAATACAAAAATTAGCTGGGTGTGGTGGTGCGCGCCTATAATCCCAGCTACTCGGGAGTCTGAGGCAGGAGAATCACCTGAACCCAGGAGGCAGAGGTTGCAGTGAGCCGAGAACGTGCCATTACACTCTAGCCTGGTGACAGAGTGAGACTCCTCAAAAACAAAACAAAACAAAACACAACAAAAAAACAAAAAGGGTCTTCGATCTTCCTAAAAGTTTGAACTAAAAAGTTCCCATTCTTCCCCCAAATAAACTGCAGACTTGTTAGTAAAACAGTCTTTTCTAATCTGGTCCTAATGTACATTTTTGGGCTCACCTCCTCTGCTGCTCCCCAAAATACACCCCCAGCGCCCAGCCCATCTAGACTGCAAGCTCCCTGGGTCTTTCCTGTTCTTTGGTCAAGTTCAGGCTTGCCCTTGACCTTGTGCCTTCCTATATCGACTCTTCCCTATGGGACATTGTACACTGTCCTGCAAGGCTCAGGTCAGACACCAGCCTCCCCAGATCCTTTGCTGGTCTCTGCAGTTGCAAGGAGACAATCTCTCCTTCCTTACTCTGAGAGCCATCAGTTAGTGAGTAAGACTGACTTGGTGTCTACCACACACATCTGGGGTCGAAGGGTTTATGTCTTACCTCTGCAGCTAGGACTTACAATCTCGGATCCTATACAGTACCTACCCAAGCTCCCCACCTTGGCTGGCTTTCAAACACGTGTTAAGGGCAGGTACAGTGGCTCATGCCTTTAATCCCAGCACTTAGGGAGGCCGAGGTGAACAGATCACCTGAGGTCAGGAGTTCAAGACCAGCCTGGCCAACATGGCAAAACCCTGTCTTTACTAAAACCACAAAAATTAGCCGGGCGTGGTGGTGCACACCCGTAGTCCCAGCTACTAGGGCGACTGAGGCGGGAGGATGGCTTGAACCTGGGAGTTGGAGGTTGCAGTGAGTTGAGCAAGACCCTGTCTCAAAAACAAACAAACAAAAAAAGTGTTGAAAATAGGTGTGATGAATGTTTTCTCTGACATCCTTGAACTTTCTCTGATCCTCACTGCAAATCTTAGGACAATGTTTTGCTCAGAAAGGAAATGCCATCTCATTTGTAAACTCTTTAGAGGTACTGATGTGAAACAGAAACTGCGAAGGAGATTCGGATCAAGACTCAGCCGCCGGGCAGACCTACCTCCCACTTGGGGTAATCGTGGGGCTTCAGGGAGCCCTTGTGTGTGCCTGGGAGCACAACCAGACAGCCGTTGTTCCGGCTGATGTGCTCCATCGCCGTCCAGGCGCAAACGATGAGATCGCTGGGCCTGAAGGGGAAATAGTGCAGGTCCTTGTGCAGGGGGTGACGGGACGTCTTCTTGCCTGAAAAGAAAACCTGCTACTAAAGGATACTCGAGGCCGAGTGCAGTGGCTCACGCCTGTAACCCCAGCACTTTGGGATATAAAAATATATCCCAAAGTGGGAGGCTGAGGCAGATGGATGGCTTGAGCCTGGGAGTTCAAAACCATCCCGGGAAACACAGTGAGACTCCGTTTCTACAGAAAACAAAACAACAAAACAAAACAAAACAACAAAAACAACTAGCCGGGTGTGGTGGCATGCACCTGTAGTCACAGCTACTTGGGAGGCTGAGGTGGGAGGATCACCTGAGCCTGGAGGTCGAGGCTGCAGTGAGCTATGATTGCACTGCTGCATTACAGCCTGGGTGACAGAGAGCGAGTCCCTGTCCCCCACCCCCAACCAAAAAAAAAAAAAAAAAAAAAAAAAAGCTGGTCTCAGAATTCTTATCCTTTGCCTGAAAAAACAATGACCTGTCCCCAGAAGAACCAAACAAATGAAATAATGCTAGAGAAAATCAGCCCCGGAGAGATAAACACCAAATTGGAAATCAACACACTGGCTCCACATCTTCAAATCCCGCACTCCCTTCTTCCGGGTTGCTGGTAGCTAAGTACTTATGCACACTATTTTCCAGCAAGCGGTATAACATCCTCATCTCTGTTGTGCTTTATTCTTTGTTGTTATTGTTTTTTGAGACGGAGTCTTGTTCTGCTGCCCAGGCTGGAGTGCAGTGACGCGATCTCGGCTCACTGCAAGCTCCGCCTCCCAGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCGCCCGCCACCACGCCCGGCTAATTTTTTGTATTTTTAGTAGAGACGGGGTTTCACTGTGTTAGCCAGGATGGTCTTGATCTCCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTCCAGGCGTGAGCCACCACGCCCGGCCTTGTGCTTTATTCTTTTGTGACCCTGGATTGGGCACAGTACCTAGCATGCAGTAATGCATGTTCAAAAACCAGTTGCATTAATTACATTGAAGAGAGTGATATGGAGTCAAGTTTGAAATCCCCTTTGAAGTGGCTGATGTCAAAAAAAGTTCTAAGCCACGTGTAGTGGCTCACACCTGTAATCCCAGCACCTTGGGAGGCTGAGGCAGGCAGCTCTCTTGAGGTCAGGAATTTGAGACCAGCCTGGCCAACATGATGAAACCTCGTCTCTACAAAAATACAAAAATTAACTGGGCATGGTGGTGCACACCAGTACTCCCAGCTACTTGGAAGGCTGAGGGCTGAGGCAGGAGAATCGCTTGAACCCAGGAGGCAGCAGGTTGCAGTGAGTCAAGATCGCACCACTGCACTCCAGCCTAGGCGACAGAGTGAGACTCTGTCTCAAAAAAAAAAAAAAAAGAAAAGAAAAAGAAAAAAAAACACACAAAACAGGACGGGCACGGTGGCTCACGCCGGTAATCCCAGCACTTTGGGAGGCTGAGCCGGGTAGATTGCCTGAGGTCAGGAGTTCGAGACCAGCCTGACCAACATGGTGAAACCCTGTCTCTACTAAAAATACCAAAAAAAAAAAAAAAAAAAAAAAAAAAAAATTAGCTGGGTGTGGTGGTGGGCACCTGTAATCCCAGCTATTCAGGAGGATGAGGCAGGAGAATCACTCAAACCCCAGAGGCAGAGGTTGCAGTAAGCCGAGATTGAGCCACTGCACTCCAGCCTGGGCAACAGAGCAAGACTCCATTTCAAAAAAAATAAAAATAAAAAAAGTTATCTAAGAGGTCCTCACCCCCCACAACTATAGTCATTCCATGTCCAGTCGGAGTGCCCATGACCACACTGACATTTTCCCCTGGTTTGCTCCCTGAGTGTGGCTCCCGAACACCTGCTCTCCTCAAGGAGGGAGAGACCTGGTAATGCTAAGCTGCCTTCTATCACATAAACCCCTCCTGCAGATCAGAAGGAAGAAAAGGCAGAAAGGATAGGGGGACTCTCTCATGGCTGATTTTTAC
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Task1_train_13667
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Consider a variant on Chromosome 10 in gene DCLRE1C (DNA cross-link repair 1C). Determine its clinical classification and disease relevance.
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Pathogenic; Severe combined immunodeficiency due to DCLRE1C deficiency
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ACTTAAACACTCCTCCTAGACAGGATTTTAAAGAGACATTTAACAGGTGGAGAGCCGCACATAGCCTTTTCCTTCCCAACAGTCCCAGGTACTCACACCTACGGGGACAGTTAGGATATGACCTGTCACCCTACAAACTTCCTACTAAAAACACGGGCACACCCAGATGATAACCCTGTTCCTCCAGGCAGACTTACCCGACTTGGAATTTGGTAAAATCTTGGATCACAGAACGTAGTATCCAAATATACACTTTGGATGTCTTTGACTCTGAAAAGAAAAAAAATTGATGTTAGCCATCCAATGTGATATAAATTATGTGTAACTTTTTTTGTTTTTTGAGATGGAGTTTCGCTCTGTTGCCCAGGCTGAAGTGCAATGTCTGCTCACTACCACCTCCTCCACCTCCCGGGTTCAAGCAATTCTCCTACCTCAGCCTCCCAACTATCTGGGATCATGGGTTTGTGCCACCACACCTTGCTAATTTTTGTATTTTTTAGTAGAGACGGGGTTTCACCATGTTGACCAGGCTGGTCTCGAACTCCTGGCCTCAAGTGATGCACCCACCTCAGCCTCCCAAAGTGCTGGGATTACAGGCCAGAACTCCCAAAGTGCTGGGATTACACCCGGCCAGAGCAATAAAACTTTATTCAGTCATACACAGAAGAACTGTACAAGAGGCCAGGCACAGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGGGGGCAGATCACCTGAAGTCAGGAGTTCAAGACCAGCCTGCCCAACATGGCAAAACCCCATCTCCACTAAAAATACAAAATTAGCTGGGCGTGGTGGCACGTACCTGTTATCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATCGCTTGAACTCTGGGCGACACAGCAAGACTCCATTTCACAAAAATAAAATAAAATAAAATAAAACCTATACGAGGCCCAGTACCTGCCCCCGGAGTGCAGAAGCTCCATTCTAGCAGCTTCTCCTTGCGCCAATCTGAAGTCTCCTGTGTACAGGACAGTTCCATTATTGCCCTGAAATAAAAACCTGAAAAAGAAATATATCCCAGTGACTTCTGAGTCTCATATAAACTCCCAATAAAGCAAATACATGTGAGCTGCATACTAAATGCTTCCTGCAAACATATCCATTACAATACAATGGTAATGGAATTCCACAGTAATTTGAACCACACCAGGCACTCAGCTGTCACCTCTTCCCTCGGGTAGAAAATAACAGAATGGAGATGCTACCCAGTTTGTAATAGATGTTCCTTGTGATATGTTAGCACTTTCAATTATATGTTGAGATCATTCTTGCTCATGGAGAGAGAAATACACGTGATGATAAAATACAAGGTCACTGGGGAAACAGCTGCTGAAGACTTCCATTTATTTATTTTTATTTTGAGATAAGAGTCTTGCTCTGTCCCCCAGGCTGCAAGGCAGTGGCTCAATCTTGGCTCACTGCAACTTCCACCTTCTGGGATCAAGCAATTCCCCAGTAGCTGGGACTACAGGGGTGTGCCACCACACCCGGCTAATGTTTATACTTTTTGTAAAGTCAAGGTTTCACCATGTTGGCCAGGCTGGTCTTGAATTCCTGGCCTCAAGTGATGCACCTGCCTTGGCCTCCCAAAGTGCCGGGATTACAGGTGTGAGCCACCACACCTGGCCATGAAGACTTCCATTTTATAAGAAACGTTTCAAATCTGATCTTCACCTCAGTCCCCCTAGTTCAATTTGGGAACAAATGTGTTTTAAATGACTAGAAAAAAAATCAAATCTCCCTCTATGTATTCTTTCTTTCTTTTTTTTTTTTTTTTTAAAAAAAAAACTCACTGCAGCCTCCAACTCCCAAGCTCAAGCAATCCTCCCGCGTCAGCCTCCCAAAGCACTGGGATTACAGACATGTGCCACTGCACCCAGCCCCCTATTAATTTTAGACCCTAAAAATTTATTTCTACAAATACAATATGTGTCTACATATAATAAAATGACAAAATAAATGACCCCCTTACATAACTGATCCCGGACAGTGACCAGCTGGTAAGAGAGTCACAACAATCTCTTCCTTCTAAAAAGAAAATAAAGAAAAAATAGTAATGGAAAGCAGTTATCATTAGGACCTAGCTCAACAAAGCCCTCCTTCACAGAACACATTTATGTACCTTTTAACAATGTGCCTTTTCTCCCAATTTCCTCACACTCCAAATCCTAGAAACAAGTGGAATCCTTGTCCACTCAACAAACAGAATTCCCATGGGACTGAGCAATTTCACCACTAGTTATAGAACCAAGATAAGCGAAAACCGATGGCCACACAAAAATGTGTGCCTGACTGTTCACAGCAGCATTCTTCATACTAGCCAAAAGGTGGAACCAGTTCAAATGTCTATCAGCTGATGCATCAATCAGGAAAATGTGGTCTAGCCATACAATGAAATATTATTTGGCCATAAAAAGAACCGACACGTGCTGCAACATGGATGATCCTTGAAAACATCCTCAGTGAAAGAAGCCGGATAAGAAATGAACACATGTTGTATGATTCCACTCATATGAAATATCCGGAATAGGTGAACCCATGGAGACAGAGAGTCCAATACAGTAGTGGTTGCCGGGGGTTGGGGAAGGAGAGAATAGGGAGGGATTGCGATCGCTAAAGGCTTCTTCCCTTGGGGTGCTGAAAATATTCTGAAATTGATTGTGGTGATGGATACACAAGTGTGTGACTCGATTTCTATCTCAATAAAGCTATTTACTTTTTTTTTTTTTTTTTTTTTTGAGATGGAGTCTCACTCTGTCACCCAGGCTGGAGTGCGATGGTGTGATCTTGGCTCACTGCAACCTCTGCCTCCTGGGTTCAAGTAATTCTCCTGCCTCAGCCTCCCCAGCTGGGATTATAGGCGCCTGCCATCACGCCTGGCTAATTTTTTGTATTTTTAGTAGAGATGGGGTTTCACCATGTTCGCCAGGCCAGTCTTGAACTCTTGACCTCAAGTGATACATCTGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGTGAGAGCCACCAAGCCCGGCCACTATTTAACAATTTTTAAAGCCTGAGCCAGGTGCGGTGGCTCATGCCTGTAATTCTAGCACTTTGGGAGGCCAAGGTGAACGAATCCCTTGAGGTCAGGAGTTTCAGACCAGTCTGGCCAACATGGCGAAACCCTGTCTCTACTAAAAATACAAAAATTAGCTGCGCATGGTGGTGGGCAGCACCTGTAATCCCAGCTACTCAGGAGGCTGAGGCAAGAGAATCGCTTGAAACCAGGAGGTAGAGGTTGCAGTGAGCCAAGATCGCCCTACTGCACTCCAGCCTGGGCGACAGAGTAAGGCTCAGTCTCAAAAAAAAAAAAAAAAAAAAAAAAGATTAAAGCCTGGATGAGGCCTGGTCCCGATTCACACTGCACATCATACTGTTCGGCAAGGGCAAGACCTGCAGGCACTACTGCCTCTCCAGCCATCAGTAAGTGGGGAGAGCTCTGCACACACCAGGTCACTGCTCAGTGACAGGGACTCCTCATGGAAGTCTCCATTCATTCTGGAGGACCCTTTCGAGTGGGTCTCCCCCTGGTTGGAGCTGGATAAACAATGCATAAAAGTCATGGCACACAGGAAGAAACATAAAAAATCAAAGTGGTGGCAGGACTGCTCAAAAGTCAGCCTGCTGTCGGCCCCCAGTTCAGGGAATGCCTTTCACCAATATCCCTGATTGTGACAAGGCCACAGACCACCACAGTATTCCCCGGAAAAGCAGTTGGCAGAGTCCAGGATGGCATTTACAAAGGTTCACCTATTTTTTTTTTCCTTTTTAATCCTCACTAAACTGGCTCTGTAGTCCTCCCTCAGGATAATTTGATGGGAAGAATACTTCAACTTCAACTGTCTGATCTTCACCAAAGAAGAAATATCTGAAAAGGTCAGTTTCTGTTCAACAACACAACACACCCTCAAAGTTAAACACGGCAAAGCAGTGTGCTATAATCAAGCAACAAAGCCAATATTAACCAAAATAGGAAAATACCTACCAGCTGTAAAGGTTAAAAAAAGGG
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ACTTAAACACTCCTCCTAGACAGGATTTTAAAGAGACATTTAACAGGTGGAGAGCCGCACATAGCCTTTTCCTTCCCAACAGTCCCAGGTACTCACACCTACGGGGACAGTTAGGATATGACCTGTCACCCTACAAACTTCCTACTAAAAACACGGGCACACCCAGATGATAACCCTGTTCCTCCAGGCAGACTTACCCGACTTGGAATTTGGTAAAATCTTGGATCACAGAACGTAGTATCCAAATATACACTTTGGATGTCTTTGACTCTGAAAAGAAAAAAAATTGATGTTAGCCATCCAATGTGATATAAATTATGTGTAACTTTTTTTGTTTTTTGAGATGGAGTTTCGCTCTGTTGCCCAGGCTGAAGTGCAATGTCTGCTCACTACCACCTCCTCCACCTCCCGGGTTCAAGCAATTCTCCTACCTCAGCCTCCCAACTATCTGGGATCATGGGTTTGTGCCACCACACCTTGCTAATTTTTGTATTTTTTAGTAGAGACGGGGTTTCACCATGTTGACCAGGCTGGTCTCGAACTCCTGGCCTCAAGTGATGCACCCACCTCAGCCTCCCAAAGTGCTGGGATTACAGGCCAGAACTCCCAAAGTGCTGGGATTACACCCGGCCAGAGCAATAAAACTTTATTCAGTCATACACAGAAGAACTGTACAAGAGGCCAGGCACAGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGGGGGCAGATCACCTGAAGTCAGGAGTTCAAGACCAGCCTGCCCAACATGGCAAAACCCCATCTCCACTAAAAATACAAAATTAGCTGGGCGTGGTGGCACGTACCTGTTATCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATCGCTTGAACTCTGGGCGACACAGCAAGACTCCATTTCACAAAAATAAAATAAAATAAAATAAAACCTATACGAGGCCCAGTACCTGCCCCCGGAGTGCAGAAGCTCCATTCTAGCAGCTTCTCCTTGCGCCAATCTGAAGTCTCCTGTGTACAGGACAGTTCCATTATTGCCCTGAAATAAAAACCTGAAAAAGAAATATATCCCAGTGACTTCTGAGTCTCATATAAACTCCCAATAAAGCAAATACATGTGAGCTGCATACTAAATGCTTCCTGCAAACATATCCATTACAATACAATGGTAATGGAATTCCACAGTAATTTGAACCACACCAGGCACTCAGCTGTCACCTCTTCCCTCGGGTAGAAAATAACAGAATGGAGATGCTACCCAGTTTGTAATAGATGTTCCTTGTGATATGTTAGCACTTTCAATTATATGTTGAGATCATTCTTGCTCATGGAGAGAGAAATACACGTGATGATAAAATACAAGGTCACTGGGGAAACAGCTGCTGAAGACTTCCATTTATTTATTTTTATTTTGAGATAAGAGTCTTGCTCTGTCCCCCAGGCTGCAAGGCAGTGGCTCAATCTTGGCTCACTGCAACTTCCACCTTCTGGGATCAAGCAATTCCCCAGTAGCTGGGACTACAGGGGTGTGCCACCACACCCGGCTAATGTTTATACTTTTTGTAAAGTCAAGGTTTCACCATGTTGGCCAGGCTGGTCTTGAATTCCTGGCCTCAAGTGATGCACCTGCCTTGGCCTCCCAAAGTGCCGGGATTACAGGTGTGAGCCACCACACCTGGCCATGAAGACTTCCATTTTATAAGAAACGTTTCAAATCTGATCTTCACCTCAGTCCCCCTAGTTCAATTTGGGAACAAATGTGTTTTAAATGACTAGAAAAAAAATCAAATCTCCCTCTATGTATTCTTTCTTTCTTTTTTTTTTTTTTTTTAAAAAAAAAACTCACTGCAGCCTCCAACTCCCAAGCTCAAGCAATCCTCCCGCGTCAGCCTCCCAAAGCACTGGGATTACAGACATGTGCCACTGCACCCAGCCCCCTATTAATTTTAGACCCTAAAAATTTATTTCTACAAATACAATATGTGTCTACATATAATAAAATGACAAAATAAATGACCCCCTTACATAACTGATCCCGGACGGTGACCAGCTGGTAAGAGAGTCACAACAATCTCTTCCTTCTAAAAAGAAAATAAAGAAAAAATAGTAATGGAAAGCAGTTATCATTAGGACCTAGCTCAACAAAGCCCTCCTTCACAGAACACATTTATGTACCTTTTAACAATGTGCCTTTTCTCCCAATTTCCTCACACTCCAAATCCTAGAAACAAGTGGAATCCTTGTCCACTCAACAAACAGAATTCCCATGGGACTGAGCAATTTCACCACTAGTTATAGAACCAAGATAAGCGAAAACCGATGGCCACACAAAAATGTGTGCCTGACTGTTCACAGCAGCATTCTTCATACTAGCCAAAAGGTGGAACCAGTTCAAATGTCTATCAGCTGATGCATCAATCAGGAAAATGTGGTCTAGCCATACAATGAAATATTATTTGGCCATAAAAAGAACCGACACGTGCTGCAACATGGATGATCCTTGAAAACATCCTCAGTGAAAGAAGCCGGATAAGAAATGAACACATGTTGTATGATTCCACTCATATGAAATATCCGGAATAGGTGAACCCATGGAGACAGAGAGTCCAATACAGTAGTGGTTGCCGGGGGTTGGGGAAGGAGAGAATAGGGAGGGATTGCGATCGCTAAAGGCTTCTTCCCTTGGGGTGCTGAAAATATTCTGAAATTGATTGTGGTGATGGATACACAAGTGTGTGACTCGATTTCTATCTCAATAAAGCTATTTACTTTTTTTTTTTTTTTTTTTTTTGAGATGGAGTCTCACTCTGTCACCCAGGCTGGAGTGCGATGGTGTGATCTTGGCTCACTGCAACCTCTGCCTCCTGGGTTCAAGTAATTCTCCTGCCTCAGCCTCCCCAGCTGGGATTATAGGCGCCTGCCATCACGCCTGGCTAATTTTTTGTATTTTTAGTAGAGATGGGGTTTCACCATGTTCGCCAGGCCAGTCTTGAACTCTTGACCTCAAGTGATACATCTGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGTGAGAGCCACCAAGCCCGGCCACTATTTAACAATTTTTAAAGCCTGAGCCAGGTGCGGTGGCTCATGCCTGTAATTCTAGCACTTTGGGAGGCCAAGGTGAACGAATCCCTTGAGGTCAGGAGTTTCAGACCAGTCTGGCCAACATGGCGAAACCCTGTCTCTACTAAAAATACAAAAATTAGCTGCGCATGGTGGTGGGCAGCACCTGTAATCCCAGCTACTCAGGAGGCTGAGGCAAGAGAATCGCTTGAAACCAGGAGGTAGAGGTTGCAGTGAGCCAAGATCGCCCTACTGCACTCCAGCCTGGGCGACAGAGTAAGGCTCAGTCTCAAAAAAAAAAAAAAAAAAAAAAAAGATTAAAGCCTGGATGAGGCCTGGTCCCGATTCACACTGCACATCATACTGTTCGGCAAGGGCAAGACCTGCAGGCACTACTGCCTCTCCAGCCATCAGTAAGTGGGGAGAGCTCTGCACACACCAGGTCACTGCTCAGTGACAGGGACTCCTCATGGAAGTCTCCATTCATTCTGGAGGACCCTTTCGAGTGGGTCTCCCCCTGGTTGGAGCTGGATAAACAATGCATAAAAGTCATGGCACACAGGAAGAAACATAAAAAATCAAAGTGGTGGCAGGACTGCTCAAAAGTCAGCCTGCTGTCGGCCCCCAGTTCAGGGAATGCCTTTCACCAATATCCCTGATTGTGACAAGGCCACAGACCACCACAGTATTCCCCGGAAAAGCAGTTGGCAGAGTCCAGGATGGCATTTACAAAGGTTCACCTATTTTTTTTTTCCTTTTTAATCCTCACTAAACTGGCTCTGTAGTCCTCCCTCAGGATAATTTGATGGGAAGAATACTTCAACTTCAACTGTCTGATCTTCACCAAAGAAGAAATATCTGAAAAGGTCAGTTTCTGTTCAACAACACAACACACCCTCAAAGTTAAACACGGCAAAGCAGTGTGCTATAATCAAGCAACAAAGCCAATATTAACCAAAATAGGAAAATACCTACCAGCTGTAAAGGTTAAAAAAAGGG
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Task1_train_13668
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Here is a mutation in DCLRE1C (DNA cross-link repair 1C) on Chromosome 10. Determine whether it’s benign or pathogenic. If the latter, what disease does it cause?
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Pathogenic; Severe combined immunodeficiency due to DCLRE1C deficiency
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AGTGAGACTATCTCAAAAAAAGGAAAAAAAAAAGTAAACAGACTCTTTGTGACACTGGGACAAATTGCTCTGCCAACTCCCACAATGATTTAAGAACTAATCCATGTAATGAACCCACATTCTGTTAAGTCATTGTGGTTCTCCTCAGATCAAGCACTGGGTGACAGGTTCTCGCAGTTTCTACTTCAGCTGGATGCTATTTTGTCAATTGCACATACGTCCATATGACCCATGGCTCCTTTTAACAGTGACACCCTCTTCAAACCTTGTCTTTCTTTGCCTTCTAGTCTACTTTCTGATATTAAAAACTGCCACTCTGACATTTTGGCCTTCTGATTGGTTAGTAATTTTTTCTTCTTCCCCCAAAATTTCAAATTTCAACCTGTATTTATCCTTCTGTTTTATCTATGTCTCTTATAGACTAATACTCATGAATTTGTCTAACTTTTTTGTTTGTTTTTGAAGATGGAGTCTCGCTCTGTCACCCAGGCTGGAGTGTAGTGGCACGATCTCAGCTCACTGCAACCTCCGCCTCCCAGGTTCAAGCGATTCTCCTGCCTCAGCATCCCAAGGAGCTGGGACTACAGGCACCGCCACCACACCCAATTTTTTGCATTTTTAGTAGACACGGGGTTTCGCCCTGTTGGCCAGGCTGTTCTCTATCTGACCTCAGGTGAGCTGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAAGCGTGAGCCACTGGGCCCAGCCAGATTTGTCTGATTTTTTTAACTTAAACTGAGAATTTGTCTTTTGACCAAAGGTACAATTAAATCCTTTCCTATATATAGTCATATATAATTGGACTTTTTCTGCCTTCTTTGCATTTTCTATTCACCAGACTTTTTCCTCCCCTTGACTACCTCATATTGGACAGATGCATTTTATTCTGCCAGACCGAAAGTTACCCATTCTATCTGTATTCTTCTAGCTGTCATCCCTTCCTTATGACAGCCTGTAATTTGTTTATTTTTCTTACTCTATCCCACAATTTAAATAAAAGGATTTAGCAATTATGTTAATGAACACTTTACACTCTAAAATATTAAAATGTGGCCAGGCATGGTGGCTCACACCTGTAATTCCAACACTTTGGGAGTGGATCCACTTGGAACCAAGTGGGTGGAACCAAGGTGGGTGGATCACCTGAAGTCAGGAGTTTGAGACCTGCCTGACCAACACAGTGAAATCCTCTGCCTACTAAAAACACAAATATTAGCCGGGTATGGTGGTGGGATTCTGTAGTCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATCACTTGAACCCAGGAGGCAGAGGTTGCAGTGAGCCGAGTTTGAGCCACTGCACTCCAGCCTCGGCAGCAGAGCGAGACTCCATCTCAAAAACAAAAAATAGAAAATATTAAAATGCATCTTAGCAAGAGGGTCAATGAGATTAAGCAAACAAAACTGAGACCTAGATCTCACTCTTGAGGAAGAAGGAAAACATATCAACAACTACCAAATGTTGACTTCTGCCATATTGTTCAATGCCAACAGACTTAATTTTTTTTTTCTTTTTTTTTTTTTTTTTTTTAGATGGAGTCCCACTCTGTTGCCCAGGCTGGAGTGCAGTGGCGTGATCTCAGCTCATTGCAACCATTGCTTCCTGGGTTCAAGCAATTATCCTGCCTCAGCCTCACAAGTAGCTGGGACTACAAGTGTGTGCCACGACACCTGGCCAAATTTTGTATTTTTAGTAGAGACAGGGTTTTACCATGTTGGCCAGGCTGGTCATGAACTCCTGACCTCAAGTGATCCATCCGCCAAGGCCTCCCAAAGTGCTGGGATTATAGGTGTAAGCCACCATGTCCGGCCAGAGACTCAATATTCTAATTAATGTGGATAACTGAAGTATGTTACAAACTGAGGCAAAGTTTTTGTCAATCTACCTCTAAAAATACTTCCCACTTAAAAAAAATTAAGTTATTAAAAAAATAAAACTTACAATTCGTTTCTTCCAAAATCTGTATTTCGGGCTCGTTAACAACAACTCCTTAGTCACAGGTGAACAGTATAGATAAACCTTCAAGCTGAAAGGAAAAAAGAAAAAAACTTTCAGTACAATCCAAAATGAGCCATCTTGGTGACTAAGAAATCTATTTCATCATACATCTAATAATTTCATTTGAGACCAGTCTGACCAACATGGTGAAACCCCATCCCTAATAAAAACACAAATACTAGCCTGGCATGGTTATGAAATCTATTTCATCATACATCTAATAATTCAGAAATTACGCTGGCACAAAATCTGTTAGAGTCACTCTCAACATACCTATGCACACCATTTCAGTGCCACCAAGAGCACAAGGTGGGGGTGGAAACACGGTGTCCCTGGACCTCCTCCAACAGTGGTCCCTCACCATTGTTACTTGGAAATACGCGCTTGTATGTGATCAGGTGTGTCTGGAAAGATACCGCCACACATTACACTACCTCTGGAAAAGGTGTGTTGAGAACAGAAACTTCTGCTTTTTACTGTATAAGTCTATTCTTTTTTTTTTTTTTTTTTTTTTTGAGATGGAGTCTTGCTCTGTTACCCAGGCTGGAGTGCAATGGTGTGATCTCGTCTCACTGCAAACTCCACTTCCCAGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGATTACAAGCACGCGCCATGATGCCGGACTAATTTTTGTATTTTTGTAGAGATGGAGTTTGACCACGTTGGCCAGGCTGGTCTCGAACTCCTGACCTCGGGTGATCCACCCACCTCGGCCTCCCAAAGTGATGGGATTACAGGCGAGAGCCACTGCGCCCGGCCTATTCTTTTTTTTTTTTTTTAATGAACAGAAATTAATTTCATAATAAACTTTTTTTTTCTTTTTTTTTGAGATGGAGTCTTGATCTGTCACTCAGGCTGGAGTGCGGTGGCGCGATCTCGGCTCAAAGCAACCTTCCGCCTCCCGGGTTCAAGCGATTCTCCTGTCTTAGCCTCTTGAGTAGCTGGGACTACATGCGCACCACCACGCCCAGCTAACTTTTTGTATTTTTAATAGAAATGGGGTTTCACCGTGTTGGCCAGGCTGGTCTCGATATCCTGACCTCAACTGATCCACCCACCTCAGCCTCCCAAAGTGATGGGATTACAGGCATGAGCCACCGCGCCCAGACCATAATAAACTTTTAAAACTTAACGCTATCATTTTGAGGTTAGGAATATAGTCTACGGTAGATTGTATTTTCCAAAGATGGCCACACAATGACATACACCATCCATACATGCTCTCCTTACAAAATAGATACTAAAATTCCTCCACTGACTGGCGGGGTCTATGTTCCCTCCCCTTGAACCTGGGCAGTTTTCTGTAATTACCTTCACCATAGAATGCGGTGGAAGTAATTGCATGGCTTTTGAGGTTAGATCTCCAGGTAGTACAACTTCCTCCTAGCTCTCTCTTAGGACATACGCTTTTTAACCCTGAGTCTCCATTTAACAGGTCTGGCCATCCTGACAGACTCACGCTAAAGAGATTTTTTTTTTTAGGGGGAGGGGAGCTCACTGTCACCCAGGCTGGAATGCAAGCTATCCTCCCACATCAGCAGCCTGAGCACCTGGGACTACAGCACATGCCACCACACCTGGCTCATTTTTCCTATTTTCTGCAGAGATGAGGTCTCCCTACGTTGCCCAGGTTGGTTTCAAACTCCTATGCTCAGGTCATCCTCCCACCTCAGCTTCCCAAAGGCCTGGGATTATAAGCCTAAGCCACTACGCCTGGCCTAAAGAGACTTTTAGAGATAGAGATGCCGCACGCCTGTAATCCCAGCACTTTGGGAAGCCAAGGTGGGCAGATCACTTGAAGTCAGGAGTTTGAGACCAGCCTGACCAACATGGTGAAACCCCATCTCTACTGAAAAATAAAAAATTAGTTGGGCTTAGAGGCACGTGCCTGTAGTCCTAGCTGCTTGGGAGGCTGAGCTGGGAGAATTGCTTGAACCTGGGAGGCAGAGATTGCAGTGAGCCAACATCACGCTACTGCACTCCTGCCTGGGCAGCAGAGTTCGACT
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AGTGAGACTATCTCAAAAAAAGGAAAAAAAAAAGTAAACAGACTCTTTGTGACACTGGGACAAATTGCTCTGCCAACTCCCACAATGATTTAAGAACTAATCCATGTAATGAACCCACATTCTGTTAAGTCATTGTGGTTCTCCTCAGATCAAGCACTGGGTGACAGGTTCTCGCAGTTTCTACTTCAGCTGGATGCTATTTTGTCAATTGCACATACGTCCATATGACCCATGGCTCCTTTTAACAGTGACACCCTCTTCAAACCTTGTCTTTCTTTGCCTTCTAGTCTACTTTCTGATATTAAAAACTGCCACTCTGACATTTTGGCCTTCTGATTGGTTAGTAATTTTTTCTTCTTCCCCCAAAATTTCAAATTTCAACCTGTATTTATCCTTCTGTTTTATCTATGTCTCTTATAGACTAATACTCATGAATTTGTCTAACTTTTTTGTTTGTTTTTGAAGATGGAGTCTCGCTCTGTCACCCAGGCTGGAGTGTAGTGGCACGATCTCAGCTCACTGCAACCTCCGCCTCCCAGGTTCAAGCGATTCTCCTGCCTCAGCATCCCAAGGAGCTGGGACTACAGGCACCGCCACCACACCCAATTTTTTGCATTTTTAGTAGACACGGGGTTTCGCCCTGTTGGCCAGGCTGTTCTCTATCTGACCTCAGGTGAGCTGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAAGCGTGAGCCACTGGGCCCAGCCAGATTTGTCTGATTTTTTTAACTTAAACTGAGAATTTGTCTTTTGACCAAAGGTACAATTAAATCCTTTCCTATATATAGTCATATATAATTGGACTTTTTCTGCCTTCTTTGCATTTTCTATTCACCAGACTTTTTCCTCCCCTTGACTACCTCATATTGGACAGATGCATTTTATTCTGCCAGACCGAAAGTTACCCATTCTATCTGTATTCTTCTAGCTGTCATCCCTTCCTTATGACAGCCTGTAATTTGTTTATTTTTCTTACTCTATCCCACAATTTAAATAAAAGGATTTAGCAATTATGTTAATGAACACTTTACACTCTAAAATATTAAAATGTGGCCAGGCATGGTGGCTCACACCTGTAATTCCAACACTTTGGGAGTGGATCCACTTGGAACCAAGTGGGTGGAACCAAGGTGGGTGGATCACCTGAAGTCAGGAGTTTGAGACCTGCCTGACCAACACAGTGAAATCCTCTGCCTACTAAAAACACAAATATTAGCCGGGTATGGTGGTGGGATTCTGTAGTCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATCACTTGAACCCAGGAGGCAGAGGTTGCAGTGAGCCGAGTTTGAGCCACTGCACTCCAGCCTCGGCAGCAGAGCGAGACTCCATCTCAAAAACAAAAAATAGAAAATATTAAAATGCATCTTAGCAAGAGGGTCAATGAGATTAAGCAAACAAAACTGAGACCTAGATCTCACTCTTGAGGAAGAAGGAAAACATATCAACAACTACCAAATGTTGACTTCTGCCATATTGTTCAATGCCAACAGACTTAATTTTTTTTTTCTTTTTTTTTTTTTTTTTTTTAGATGGAGTCCCACTCTGTTGCCCAGGCTGGAGTGCAGTGGCGTGATCTCAGCTCATTGCAACCATTGCTTCCTGGGTTCAAGCAATTATCCTGCCTCAGCCTCACAAGTAGCTGGGACTACAAGTGTGTGCCACGACACCTGGCCAAATTTTGTATTTTTAGTAGAGACAGGGTTTTACCATGTTGGCCAGGCTGGTCATGAACTCCTGACCTCAAGTGATCCATCCGCCAAGGCCTCCCAAAGTGCTGGGATTATAGGTGTAAGCCACCATGTCCGGCCAGAGACTCAATATTCTAATTAATGTGGATAACTGAAGTATGTTACAAACTGAGGCAAAGTTTTTGTCAATCTACCTCTAAAAATACTTCCCACTTAAAAAAAATTAAGTTATTAAAAAAATAAAACTTACAATTCGTTTCTTCCAAAATCTGTATTTCGGGCTCGTTAACAACAACTCCTTAATCACAGGTGAACAGTATAGATAAACCTTCAAGCTGAAAGGAAAAAAGAAAAAAACTTTCAGTACAATCCAAAATGAGCCATCTTGGTGACTAAGAAATCTATTTCATCATACATCTAATAATTTCATTTGAGACCAGTCTGACCAACATGGTGAAACCCCATCCCTAATAAAAACACAAATACTAGCCTGGCATGGTTATGAAATCTATTTCATCATACATCTAATAATTCAGAAATTACGCTGGCACAAAATCTGTTAGAGTCACTCTCAACATACCTATGCACACCATTTCAGTGCCACCAAGAGCACAAGGTGGGGGTGGAAACACGGTGTCCCTGGACCTCCTCCAACAGTGGTCCCTCACCATTGTTACTTGGAAATACGCGCTTGTATGTGATCAGGTGTGTCTGGAAAGATACCGCCACACATTACACTACCTCTGGAAAAGGTGTGTTGAGAACAGAAACTTCTGCTTTTTACTGTATAAGTCTATTCTTTTTTTTTTTTTTTTTTTTTTTGAGATGGAGTCTTGCTCTGTTACCCAGGCTGGAGTGCAATGGTGTGATCTCGTCTCACTGCAAACTCCACTTCCCAGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGATTACAAGCACGCGCCATGATGCCGGACTAATTTTTGTATTTTTGTAGAGATGGAGTTTGACCACGTTGGCCAGGCTGGTCTCGAACTCCTGACCTCGGGTGATCCACCCACCTCGGCCTCCCAAAGTGATGGGATTACAGGCGAGAGCCACTGCGCCCGGCCTATTCTTTTTTTTTTTTTTTAATGAACAGAAATTAATTTCATAATAAACTTTTTTTTTCTTTTTTTTTGAGATGGAGTCTTGATCTGTCACTCAGGCTGGAGTGCGGTGGCGCGATCTCGGCTCAAAGCAACCTTCCGCCTCCCGGGTTCAAGCGATTCTCCTGTCTTAGCCTCTTGAGTAGCTGGGACTACATGCGCACCACCACGCCCAGCTAACTTTTTGTATTTTTAATAGAAATGGGGTTTCACCGTGTTGGCCAGGCTGGTCTCGATATCCTGACCTCAACTGATCCACCCACCTCAGCCTCCCAAAGTGATGGGATTACAGGCATGAGCCACCGCGCCCAGACCATAATAAACTTTTAAAACTTAACGCTATCATTTTGAGGTTAGGAATATAGTCTACGGTAGATTGTATTTTCCAAAGATGGCCACACAATGACATACACCATCCATACATGCTCTCCTTACAAAATAGATACTAAAATTCCTCCACTGACTGGCGGGGTCTATGTTCCCTCCCCTTGAACCTGGGCAGTTTTCTGTAATTACCTTCACCATAGAATGCGGTGGAAGTAATTGCATGGCTTTTGAGGTTAGATCTCCAGGTAGTACAACTTCCTCCTAGCTCTCTCTTAGGACATACGCTTTTTAACCCTGAGTCTCCATTTAACAGGTCTGGCCATCCTGACAGACTCACGCTAAAGAGATTTTTTTTTTTAGGGGGAGGGGAGCTCACTGTCACCCAGGCTGGAATGCAAGCTATCCTCCCACATCAGCAGCCTGAGCACCTGGGACTACAGCACATGCCACCACACCTGGCTCATTTTTCCTATTTTCTGCAGAGATGAGGTCTCCCTACGTTGCCCAGGTTGGTTTCAAACTCCTATGCTCAGGTCATCCTCCCACCTCAGCTTCCCAAAGGCCTGGGATTATAAGCCTAAGCCACTACGCCTGGCCTAAAGAGACTTTTAGAGATAGAGATGCCGCACGCCTGTAATCCCAGCACTTTGGGAAGCCAAGGTGGGCAGATCACTTGAAGTCAGGAGTTTGAGACCAGCCTGACCAACATGGTGAAACCCCATCTCTACTGAAAAATAAAAAATTAGTTGGGCTTAGAGGCACGTGCCTGTAGTCCTAGCTGCTTGGGAGGCTGAGCTGGGAGAATTGCTTGAACCTGGGAGGCAGAGATTGCAGTGAGCCAACATCACGCTACTGCACTCCTGCCTGGGCAGCAGAGTTCGACT
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Task1_train_13669
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A variant affecting Chromosome 10, within the gene DCLRE1C (DNA cross-link repair 1C), has been observed. Determine if it's benign or associated with disease.
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Pathogenic; Severe combined immunodeficiency due to DCLRE1C deficiency
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CAAAAAGGTGAAAAGCCAACAGAAGGCAATGTGAGAAACCTCCAAAAGCAGAAGTTGTGTTTTCACCCTTGATGAGTTTATGTCCTGGTTGACTAAGCAGATCCACATGTGGTCAGAGAACAGAAAAAGTTGTTATAGACTGTTCAACAGTAGGGAAGAGTCCATTTCTGGCTTAATGCACAAACTTATGATGATTTCAAATTCCTTTAGATTTATTATTTCTCCAAACTCAGCCATCCTAAACACGAAGTGCAAGTTTCGGAAGTATACTTTAATCCTGGCTAGCCCATTTTGAGTTCAGAGACTCCAGTGCGGCTCTACACAAAAAGTAAAAATAGGCATATCCTCGTCCAGCAGTGGATTCTCAATGAAAAACAAAACCAGAAATGTGTCAGGCACAGCGGCTCACACCTGTAATCCTAACACTTTGGGAGGCTGAGGTGGGTGGATCTACCTGAGGCCAGGAGTTCGAGACCAGCCTGGCCAACATGGTGAAACATCATCTCTACTAAAAACACAAAAATTACCTGGGTGTGGTGGTGCGTGCCTGTAACTCCAGCTACTTGGGAGGCTGAGGCACGAGAATCGCTTGAACCCAGGAGGCGGAGGTTGCAGTGAACAGAGATCACGCCACTGCACTCCAGCCTGGTGATGGAGACTCCACCTCAAAATAATAATAAAAATACAAACATTAGCTAGGCATGGTGGCTGACTCCTGTAGTCCCAACTACTTGAGCAGAGAGCATGTGCCACACTGTACTCCAGCCTGGGCGACAAAGGGAGACCCTGTCTCCAAAAAAAAGAAAAAGAAGAAGGAGATGCTCAAAGACGTGCACGATGCGAATACGGCAACGCACGAGAAGAGGTCCAGATTTTCCCATTAAAGAGAAATCACTGGTGGCTTTGTGGAAAAAAAAAGCAGAGACATTTCGCAGAAGCAGTAACTTCAACGATTTATAGTCCAAGTGATTGATTCCACACACAAAACAACATAGCTGGCCTTCACACCAACCCTGTGAGGAAAGGCTGTGTTTGGATACCTGTAATTTACTTTAAAATACTTTCCTACTGCGCAGGTACAGATAGGTTTGTTACGCTGATTGACTCCACAGGGTAGTGGGAGCTTCCTGCTCCAGCACGCTGCAAGGCCACACAGCAGGAGGCAGCAACTCCAGTGATTCCGTTTATCATTTTCTCCAATTAACACTAATGGCTGGGCGAATTAGCACAATGAGCATTAAAACTGTTTTCCCTGGTAAAAGTTAGTGACTTGTTAGCACAATAGAAGTGAAAATGAACAATGGTTGTCAAGTTAGCGGTATTTAAACTCTGGAACTTAGCTCCAATCTCTGCTTGGAGCATCAGCGACACTCTAACCTTAATCCCTAAATCGGCCCAGCTGTGAAAGGATCCAGCTGTGAAATCATAGTAGCTTTTCAGGTTGCCTGATACCATCTAGAAGGGAAACATCCCTCCAACCTAAACTAGAACGAAACTTTCATATTGGATACGGACAGAACACCCAAAGGCCAAGGAGCTTGCACTTCGTGGAGCTCTTAGGCGGGCTGTTCCACAGTTGTGTGTGTGTCTGAGTCTCCTGCTTGCTGACCAATGTTTGAGGGTGTGGTCAAATGGATCTGAAACTTGTTTTCTTCATACATGGTAGCGAGGCTCTGAGGGAAGTACTAACCCTCGCCAATCTCTGATCATCGGCCACCAGCAAAGCTACCAAGAGAAACTACTAGCAGTGCTTGACCAAGCCGGCCCGGGGCGCAACTGGCAGGCGCCGTTACGCCGCGTTGACCACATCCGAAAATAGATGAAGCCTTTGAGAGGCTGAAGAGCCCGACTGGGACAAGGCGTGTGCTGGCCGCCCCCTCGCTGGCTTCCCACAGGCTGCAGCTCCTTGCTCCAGGGCCGGCCCCCTCCTGTCCTCTCTCCAGCCCCCAGCGCCCCGGGAGCGGGCGACGCGCAGCCCTCACTCACCTTTGTGGCAGTGGGACAGGAAGTAGGCGCGGGCCCTCAGGTTCTCCCTATCGAAGCGGTCTATGGAGATAGTTGGATACTCGGCCATCTGCCCCTCGAAAGAACTCATAGCGCCGCCGATCCCAGAGTCCGGGACCCCAAAACCGCAGCTGAAGCCAAGGCCAGCCCTGACCGCGCCGCCACTTCCGGGAAGCCGCGCGCTGCCTCGCCATTGGGCGGCCGAACGCAGCCACGTCCAATCAGAGGAGTCCGGAGACCGGGGGCAAAGTCAAGGAGCATCCGGTCGGGTTCTAGGCGCCCGCTGCTTGGGTTTAAATCACCCGCGCTTCGCTGCACGCGATGGGCCCTGAGCCCTGCCCAGTGCAAGGCTCATTCCCGCCCAACAAACACAGGTGTTGCTCTGGTAAGGCGTTGCCCATGTCTGTGGAGGTGCAGTCGCGGGAAGGGAAATCGAAACTCCCAGAGCAGGTGGCCCCAGCCGACGAGGTGAGTGGGCTGCGGAACTGCGCTTAGAAATCATTCTTCGTTCCGCTTCCTGCTTGTCTGCTGCTAGCCTGAAACCCGAGCTCAGTTCCCCGCCCTCTCTCTTCTGTTCCCAATTTCTAACCTTGTGGGATTACCGTGAGGGTTGTATGAGAAAGTTTGTATCTGACTCATGGTAGATTCAGGAACTATTAATTCCCTCTTCCGTTTATATAATCTACAAACTGAATAAATCATCTCTGCGTGATCTTGGGGCAAATAAGATCCCAATAATGCCTTCGCTGCTGGCCTCTCCCCTGGGCCCCCACCTTTTTGAGCTATACTTTTAGGAAGTTAGAATGATGTACTTAAAAAAAGAAAAATGGCAGGAAAGGTCTAAAATTTTTTAACAACCAAAGCAACTTTATGAAAAGGTTTGTTAAACCTTTTATTGTATTTCCTTTATTGTATTACAATAAACCAAATAATCACCATGACATTTATTGTGCTCCTTCCTATCAAATCTCCTTAGTATAATTAAACACAAACAACCCAGAACACTTTCGCTTTATTTTATTTATTTATTCAGTTGGGGTCTAGTTCTATCGCCCAGGCTGGAGTGCAGTGGCGTGATTTCGGCTCTCTGCAACCTCCGCCTCCCGGGTTCAGGCGATTCTCCTGCCTCAGCCTCCAGAGTAGCTGGGACTACAGGCACGCGCCGCCACGCCTGGCTCATTTTTATATTTTTAGCAGAGACGGGGTTTCACCACGTTGACCAGGCTGGTCTCGAGCTCCTGGCCTCATGCGATCCGCTCGCCTCGGCCTCCCAAAGTGCTGGGTGAGCCATTGTACCTGGCTTTCCAGGCCTCCATAACACTTGAAGTCCCACTTTGTGCACAGCACTGTGACAAACCTTCGGGTAGCATTCAATCTATCTGGCGACAACATGTTTGCAGAATATGGCAAATAAATGCTTCCACAGAGACGCAAGGTAACGTGAGAACAAATCCAGGAACAAAGATTTCTGACCAGGGAAATCAGGAATCAGAATGCCATCCCAGCCCACCTCAGTGGCTCATGCCTGTAATCCCAGCACTTTGGAGGGCTGAGGCAGGTGATCACCTGAGGTCAGGAGTTCAGGACCAGCCTGGACAACATGGTGAAACCCCATCTCTACTAAAAATACAAAAATCGGCCGGGCATGGTGGCACACATCTCCAGCTACTCGGGAGGCCGAGGCAGGAGAATCACTTGAACCTGGGAGGCGGAGGTTGCAGTGAGCCTAGATCATGCCAGTTCACTCCAGCCTGGGCAACAGAGAGAGACTCTGTCTCAAAAAAACAAAACAAAACAGAATGACATCCCTAGTGAATGTCAGCTTGTGCCTGTAGCCATGATACTCAGAGTTCTATTCAAATACAGATTTCCATGAAATCTTGAGGAGGGGGAGGAGGGGTGACATGGAAAGGTATACACAACATAATCACTAATTGAGGTAAAATATCCTGCTAGTATACTACTGGCAACACCTTTGATGGTTTGTCTTAGAACACATGGGAACAACTGCCCTGGCAGGGTTATGGAGACCTAACAACAAATTCTGCTGTGAGTCTAGTGTCCGAAGAATCTCACGGTAGAGCTCCAGGAA
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CAAAAAGGTGAAAAGCCAACAGAAGGCAATGTGAGAAACCTCCAAAAGCAGAAGTTGTGTTTTCACCCTTGATGAGTTTATGTCCTGGTTGACTAAGCAGATCCACATGTGGTCAGAGAACAGAAAAAGTTGTTATAGACTGTTCAACAGTAGGGAAGAGTCCATTTCTGGCTTAATGCACAAACTTATGATGATTTCAAATTCCTTTAGATTTATTATTTCTCCAAACTCAGCCATCCTAAACACGAAGTGCAAGTTTCGGAAGTATACTTTAATCCTGGCTAGCCCATTTTGAGTTCAGAGACTCCAGTGCGGCTCTACACAAAAAGTAAAAATAGGCATATCCTCGTCCAGCAGTGGATTCTCAATGAAAAACAAAACCAGAAATGTGTCAGGCACAGCGGCTCACACCTGTAATCCTAACACTTTGGGAGGCTGAGGTGGGTGGATCTACCTGAGGCCAGGAGTTCGAGACCAGCCTGGCCAACATGGTGAAACATCATCTCTACTAAAAACACAAAAATTACCTGGGTGTGGTGGTGCGTGCCTGTAACTCCAGCTACTTGGGAGGCTGAGGCACGAGAATCGCTTGAACCCAGGAGGCGGAGGTTGCAGTGAACAGAGATCACGCCACTGCACTCCAGCCTGGTGATGGAGACTCCACCTCAAAATAATAATAAAAATACAAACATTAGCTAGGCATGGTGGCTGACTCCTGTAGTCCCAACTACTTGAGCAGAGAGCATGTGCCACACTGTACTCCAGCCTGGGCGACAAAGGGAGACCCTGTCTCCAAAAAAAAGAAAAAGAAGAAGGAGATGCTCAAAGACGTGCACGATGCGAATACGGCAACGCACGAGAAGAGGTCCAGATTTTCCCATTAAAGAGAAATCACTGGTGGCTTTGTGGAAAAAAAAAGCAGAGACATTTCGCAGAAGCAGTAACTTCAACGATTTATAGTCCAAGTGATTGATTCCACACACAAAACAACATAGCTGGCCTTCACACCAACCCTGTGAGGAAAGGCTGTGTTTGGATACCTGTAATTTACTTTAAAATACTTTCCTACTGCGCAGGTACAGATAGGTTTGTTACGCTGATTGACTCCACAGGGTAGTGGGAGCTTCCTGCTCCAGCACGCTGCAAGGCCACACAGCAGGAGGCAGCAACTCCAGTGATTCCGTTTATCATTTTCTCCAATTAACACTAATGGCTGGGCGAATTAGCACAATGAGCATTAAAACTGTTTTCCCTGGTAAAAGTTAGTGACTTGTTAGCACAATAGAAGTGAAAATGAACAATGGTTGTCAAGTTAGCGGTATTTAAACTCTGGAACTTAGCTCCAATCTCTGCTTGGAGCATCAGCGACACTCTAACCTTAATCCCTAAATCGGCCCAGCTGTGAAAGGATCCAGCTGTGAAATCATAGTAGCTTTTCAGGTTGCCTGATACCATCTAGAAGGGAAACATCCCTCCAACCTAAACTAGAACGAAACTTTCATATTGGATACGGACAGAACACCCAAAGGCCAAGGAGCTTGCACTTCGTGGAGCTCTTAGGCGGGCTGTTCCACAGTTGTGTGTGTGTCTGAGTCTCCTGCTTGCTGACCAATGTTTGAGGGTGTGGTCAAATGGATCTGAAACTTGTTTTCTTCATACATGGTAGCGAGGCTCTGAGGGAAGTACTAACCCTCGCCAATCTCTGATCATCGGCCACCAGCAAAGCTACCAAGAGAAACTACTAGCAGTGCTTGACCAAGCCGGCCCGGGGCGCAACTGGCAGGCGCCGTTACGCCGCGTTGACCACATCCGAAAATAGATGAAGCCTTTGAGAGGCTGAAGAGCCCGACTGGGACAAGGCGTGTGCTGGCCGCCCCCTCGCTGGCTTCCCACAGGCTGCAGCTCCTTGCTCCAGGGCCGGCCCCCTCCTGTCCTCTCTCCAGCCCCCAGCGCCCCGGGAGCGGGCGACGCGCAGCCCTCACTCACCTTTGTGGCAGTGGGACAGGAAGTAGGCGCGGGCCCTCAGGTTCTCCCTATCGAAGCGGTCTGTGGAGATAGTTGGATACTCGGCCATCTGCCCCTCGAAAGAACTCATAGCGCCGCCGATCCCAGAGTCCGGGACCCCAAAACCGCAGCTGAAGCCAAGGCCAGCCCTGACCGCGCCGCCACTTCCGGGAAGCCGCGCGCTGCCTCGCCATTGGGCGGCCGAACGCAGCCACGTCCAATCAGAGGAGTCCGGAGACCGGGGGCAAAGTCAAGGAGCATCCGGTCGGGTTCTAGGCGCCCGCTGCTTGGGTTTAAATCACCCGCGCTTCGCTGCACGCGATGGGCCCTGAGCCCTGCCCAGTGCAAGGCTCATTCCCGCCCAACAAACACAGGTGTTGCTCTGGTAAGGCGTTGCCCATGTCTGTGGAGGTGCAGTCGCGGGAAGGGAAATCGAAACTCCCAGAGCAGGTGGCCCCAGCCGACGAGGTGAGTGGGCTGCGGAACTGCGCTTAGAAATCATTCTTCGTTCCGCTTCCTGCTTGTCTGCTGCTAGCCTGAAACCCGAGCTCAGTTCCCCGCCCTCTCTCTTCTGTTCCCAATTTCTAACCTTGTGGGATTACCGTGAGGGTTGTATGAGAAAGTTTGTATCTGACTCATGGTAGATTCAGGAACTATTAATTCCCTCTTCCGTTTATATAATCTACAAACTGAATAAATCATCTCTGCGTGATCTTGGGGCAAATAAGATCCCAATAATGCCTTCGCTGCTGGCCTCTCCCCTGGGCCCCCACCTTTTTGAGCTATACTTTTAGGAAGTTAGAATGATGTACTTAAAAAAAGAAAAATGGCAGGAAAGGTCTAAAATTTTTTAACAACCAAAGCAACTTTATGAAAAGGTTTGTTAAACCTTTTATTGTATTTCCTTTATTGTATTACAATAAACCAAATAATCACCATGACATTTATTGTGCTCCTTCCTATCAAATCTCCTTAGTATAATTAAACACAAACAACCCAGAACACTTTCGCTTTATTTTATTTATTTATTCAGTTGGGGTCTAGTTCTATCGCCCAGGCTGGAGTGCAGTGGCGTGATTTCGGCTCTCTGCAACCTCCGCCTCCCGGGTTCAGGCGATTCTCCTGCCTCAGCCTCCAGAGTAGCTGGGACTACAGGCACGCGCCGCCACGCCTGGCTCATTTTTATATTTTTAGCAGAGACGGGGTTTCACCACGTTGACCAGGCTGGTCTCGAGCTCCTGGCCTCATGCGATCCGCTCGCCTCGGCCTCCCAAAGTGCTGGGTGAGCCATTGTACCTGGCTTTCCAGGCCTCCATAACACTTGAAGTCCCACTTTGTGCACAGCACTGTGACAAACCTTCGGGTAGCATTCAATCTATCTGGCGACAACATGTTTGCAGAATATGGCAAATAAATGCTTCCACAGAGACGCAAGGTAACGTGAGAACAAATCCAGGAACAAAGATTTCTGACCAGGGAAATCAGGAATCAGAATGCCATCCCAGCCCACCTCAGTGGCTCATGCCTGTAATCCCAGCACTTTGGAGGGCTGAGGCAGGTGATCACCTGAGGTCAGGAGTTCAGGACCAGCCTGGACAACATGGTGAAACCCCATCTCTACTAAAAATACAAAAATCGGCCGGGCATGGTGGCACACATCTCCAGCTACTCGGGAGGCCGAGGCAGGAGAATCACTTGAACCTGGGAGGCGGAGGTTGCAGTGAGCCTAGATCATGCCAGTTCACTCCAGCCTGGGCAACAGAGAGAGACTCTGTCTCAAAAAAACAAAACAAAACAGAATGACATCCCTAGTGAATGTCAGCTTGTGCCTGTAGCCATGATACTCAGAGTTCTATTCAAATACAGATTTCCATGAAATCTTGAGGAGGGGGAGGAGGGGTGACATGGAAAGGTATACACAACATAATCACTAATTGAGGTAAAATATCCTGCTAGTATACTACTGGCAACACCTTTGATGGTTTGTCTTAGAACACATGGGAACAACTGCCCTGGCAGGGTTATGGAGACCTAACAACAAATTCTGCTGTGAGTCTAGTGTCCGAAGAATCTCACGGTAGAGCTCCAGGAA
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Task1_train_13670
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Given a variant located on Chromosome 10 and affecting DCLRE1C (DNA cross-link repair 1C), assess whether it is benign or pathogenic. Indicate the associated disease if pathogenic.
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Pathogenic; Severe combined immunodeficiency due to DCLRE1C deficiency
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AAGCAGAAGTTGTGTTTTCACCCTTGATGAGTTTATGTCCTGGTTGACTAAGCAGATCCACATGTGGTCAGAGAACAGAAAAAGTTGTTATAGACTGTTCAACAGTAGGGAAGAGTCCATTTCTGGCTTAATGCACAAACTTATGATGATTTCAAATTCCTTTAGATTTATTATTTCTCCAAACTCAGCCATCCTAAACACGAAGTGCAAGTTTCGGAAGTATACTTTAATCCTGGCTAGCCCATTTTGAGTTCAGAGACTCCAGTGCGGCTCTACACAAAAAGTAAAAATAGGCATATCCTCGTCCAGCAGTGGATTCTCAATGAAAAACAAAACCAGAAATGTGTCAGGCACAGCGGCTCACACCTGTAATCCTAACACTTTGGGAGGCTGAGGTGGGTGGATCTACCTGAGGCCAGGAGTTCGAGACCAGCCTGGCCAACATGGTGAAACATCATCTCTACTAAAAACACAAAAATTACCTGGGTGTGGTGGTGCGTGCCTGTAACTCCAGCTACTTGGGAGGCTGAGGCACGAGAATCGCTTGAACCCAGGAGGCGGAGGTTGCAGTGAACAGAGATCACGCCACTGCACTCCAGCCTGGTGATGGAGACTCCACCTCAAAATAATAATAAAAATACAAACATTAGCTAGGCATGGTGGCTGACTCCTGTAGTCCCAACTACTTGAGCAGAGAGCATGTGCCACACTGTACTCCAGCCTGGGCGACAAAGGGAGACCCTGTCTCCAAAAAAAAGAAAAAGAAGAAGGAGATGCTCAAAGACGTGCACGATGCGAATACGGCAACGCACGAGAAGAGGTCCAGATTTTCCCATTAAAGAGAAATCACTGGTGGCTTTGTGGAAAAAAAAAGCAGAGACATTTCGCAGAAGCAGTAACTTCAACGATTTATAGTCCAAGTGATTGATTCCACACACAAAACAACATAGCTGGCCTTCACACCAACCCTGTGAGGAAAGGCTGTGTTTGGATACCTGTAATTTACTTTAAAATACTTTCCTACTGCGCAGGTACAGATAGGTTTGTTACGCTGATTGACTCCACAGGGTAGTGGGAGCTTCCTGCTCCAGCACGCTGCAAGGCCACACAGCAGGAGGCAGCAACTCCAGTGATTCCGTTTATCATTTTCTCCAATTAACACTAATGGCTGGGCGAATTAGCACAATGAGCATTAAAACTGTTTTCCCTGGTAAAAGTTAGTGACTTGTTAGCACAATAGAAGTGAAAATGAACAATGGTTGTCAAGTTAGCGGTATTTAAACTCTGGAACTTAGCTCCAATCTCTGCTTGGAGCATCAGCGACACTCTAACCTTAATCCCTAAATCGGCCCAGCTGTGAAAGGATCCAGCTGTGAAATCATAGTAGCTTTTCAGGTTGCCTGATACCATCTAGAAGGGAAACATCCCTCCAACCTAAACTAGAACGAAACTTTCATATTGGATACGGACAGAACACCCAAAGGCCAAGGAGCTTGCACTTCGTGGAGCTCTTAGGCGGGCTGTTCCACAGTTGTGTGTGTGTCTGAGTCTCCTGCTTGCTGACCAATGTTTGAGGGTGTGGTCAAATGGATCTGAAACTTGTTTTCTTCATACATGGTAGCGAGGCTCTGAGGGAAGTACTAACCCTCGCCAATCTCTGATCATCGGCCACCAGCAAAGCTACCAAGAGAAACTACTAGCAGTGCTTGACCAAGCCGGCCCGGGGCGCAACTGGCAGGCGCCGTTACGCCGCGTTGACCACATCCGAAAATAGATGAAGCCTTTGAGAGGCTGAAGAGCCCGACTGGGACAAGGCGTGTGCTGGCCGCCCCCTCGCTGGCTTCCCACAGGCTGCAGCTCCTTGCTCCAGGGCCGGCCCCCTCCTGTCCTCTCTCCAGCCCCCAGCGCCCCGGGAGCGGGCGACGCGCAGCCCTCACTCACCTTTGTGGCAGTGGGACAGGAAGTAGGCGCGGGCCCTCAGGTTCTCCCTATCGAAGCGGTCTATGGAGATAGTTGGATACTCGGCCATCTGCCCCTCGAAAGAACTCATAGCGCCGCCGATCCCAGAGTCCGGGACCCCAAAACCGCAGCTGAAGCCAAGGCCAGCCCTGACCGCGCCGCCACTTCCGGGAAGCCGCGCGCTGCCTCGCCATTGGGCGGCCGAACGCAGCCACGTCCAATCAGAGGAGTCCGGAGACCGGGGGCAAAGTCAAGGAGCATCCGGTCGGGTTCTAGGCGCCCGCTGCTTGGGTTTAAATCACCCGCGCTTCGCTGCACGCGATGGGCCCTGAGCCCTGCCCAGTGCAAGGCTCATTCCCGCCCAACAAACACAGGTGTTGCTCTGGTAAGGCGTTGCCCATGTCTGTGGAGGTGCAGTCGCGGGAAGGGAAATCGAAACTCCCAGAGCAGGTGGCCCCAGCCGACGAGGTGAGTGGGCTGCGGAACTGCGCTTAGAAATCATTCTTCGTTCCGCTTCCTGCTTGTCTGCTGCTAGCCTGAAACCCGAGCTCAGTTCCCCGCCCTCTCTCTTCTGTTCCCAATTTCTAACCTTGTGGGATTACCGTGAGGGTTGTATGAGAAAGTTTGTATCTGACTCATGGTAGATTCAGGAACTATTAATTCCCTCTTCCGTTTATATAATCTACAAACTGAATAAATCATCTCTGCGTGATCTTGGGGCAAATAAGATCCCAATAATGCCTTCGCTGCTGGCCTCTCCCCTGGGCCCCCACCTTTTTGAGCTATACTTTTAGGAAGTTAGAATGATGTACTTAAAAAAAGAAAAATGGCAGGAAAGGTCTAAAATTTTTTAACAACCAAAGCAACTTTATGAAAAGGTTTGTTAAACCTTTTATTGTATTTCCTTTATTGTATTACAATAAACCAAATAATCACCATGACATTTATTGTGCTCCTTCCTATCAAATCTCCTTAGTATAATTAAACACAAACAACCCAGAACACTTTCGCTTTATTTTATTTATTTATTCAGTTGGGGTCTAGTTCTATCGCCCAGGCTGGAGTGCAGTGGCGTGATTTCGGCTCTCTGCAACCTCCGCCTCCCGGGTTCAGGCGATTCTCCTGCCTCAGCCTCCAGAGTAGCTGGGACTACAGGCACGCGCCGCCACGCCTGGCTCATTTTTATATTTTTAGCAGAGACGGGGTTTCACCACGTTGACCAGGCTGGTCTCGAGCTCCTGGCCTCATGCGATCCGCTCGCCTCGGCCTCCCAAAGTGCTGGGTGAGCCATTGTACCTGGCTTTCCAGGCCTCCATAACACTTGAAGTCCCACTTTGTGCACAGCACTGTGACAAACCTTCGGGTAGCATTCAATCTATCTGGCGACAACATGTTTGCAGAATATGGCAAATAAATGCTTCCACAGAGACGCAAGGTAACGTGAGAACAAATCCAGGAACAAAGATTTCTGACCAGGGAAATCAGGAATCAGAATGCCATCCCAGCCCACCTCAGTGGCTCATGCCTGTAATCCCAGCACTTTGGAGGGCTGAGGCAGGTGATCACCTGAGGTCAGGAGTTCAGGACCAGCCTGGACAACATGGTGAAACCCCATCTCTACTAAAAATACAAAAATCGGCCGGGCATGGTGGCACACATCTCCAGCTACTCGGGAGGCCGAGGCAGGAGAATCACTTGAACCTGGGAGGCGGAGGTTGCAGTGAGCCTAGATCATGCCAGTTCACTCCAGCCTGGGCAACAGAGAGAGACTCTGTCTCAAAAAAACAAAACAAAACAGAATGACATCCCTAGTGAATGTCAGCTTGTGCCTGTAGCCATGATACTCAGAGTTCTATTCAAATACAGATTTCCATGAAATCTTGAGGAGGGGGAGGAGGGGTGACATGGAAAGGTATACACAACATAATCACTAATTGAGGTAAAATATCCTGCTAGTATACTACTGGCAACACCTTTGATGGTTTGTCTTAGAACACATGGGAACAACTGCCCTGGCAGGGTTATGGAGACCTAACAACAAATTCTGCTGTGAGTCTAGTGTCCGAAGAATCTCACGGTAGAGCTCCAGGAAAGGCAGGTCAAGTTAATGCTCGTGATCTTATGTATTTGCTCACTT
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AAGCAGAAGTTGTGTTTTCACCCTTGATGAGTTTATGTCCTGGTTGACTAAGCAGATCCACATGTGGTCAGAGAACAGAAAAAGTTGTTATAGACTGTTCAACAGTAGGGAAGAGTCCATTTCTGGCTTAATGCACAAACTTATGATGATTTCAAATTCCTTTAGATTTATTATTTCTCCAAACTCAGCCATCCTAAACACGAAGTGCAAGTTTCGGAAGTATACTTTAATCCTGGCTAGCCCATTTTGAGTTCAGAGACTCCAGTGCGGCTCTACACAAAAAGTAAAAATAGGCATATCCTCGTCCAGCAGTGGATTCTCAATGAAAAACAAAACCAGAAATGTGTCAGGCACAGCGGCTCACACCTGTAATCCTAACACTTTGGGAGGCTGAGGTGGGTGGATCTACCTGAGGCCAGGAGTTCGAGACCAGCCTGGCCAACATGGTGAAACATCATCTCTACTAAAAACACAAAAATTACCTGGGTGTGGTGGTGCGTGCCTGTAACTCCAGCTACTTGGGAGGCTGAGGCACGAGAATCGCTTGAACCCAGGAGGCGGAGGTTGCAGTGAACAGAGATCACGCCACTGCACTCCAGCCTGGTGATGGAGACTCCACCTCAAAATAATAATAAAAATACAAACATTAGCTAGGCATGGTGGCTGACTCCTGTAGTCCCAACTACTTGAGCAGAGAGCATGTGCCACACTGTACTCCAGCCTGGGCGACAAAGGGAGACCCTGTCTCCAAAAAAAAGAAAAAGAAGAAGGAGATGCTCAAAGACGTGCACGATGCGAATACGGCAACGCACGAGAAGAGGTCCAGATTTTCCCATTAAAGAGAAATCACTGGTGGCTTTGTGGAAAAAAAAAGCAGAGACATTTCGCAGAAGCAGTAACTTCAACGATTTATAGTCCAAGTGATTGATTCCACACACAAAACAACATAGCTGGCCTTCACACCAACCCTGTGAGGAAAGGCTGTGTTTGGATACCTGTAATTTACTTTAAAATACTTTCCTACTGCGCAGGTACAGATAGGTTTGTTACGCTGATTGACTCCACAGGGTAGTGGGAGCTTCCTGCTCCAGCACGCTGCAAGGCCACACAGCAGGAGGCAGCAACTCCAGTGATTCCGTTTATCATTTTCTCCAATTAACACTAATGGCTGGGCGAATTAGCACAATGAGCATTAAAACTGTTTTCCCTGGTAAAAGTTAGTGACTTGTTAGCACAATAGAAGTGAAAATGAACAATGGTTGTCAAGTTAGCGGTATTTAAACTCTGGAACTTAGCTCCAATCTCTGCTTGGAGCATCAGCGACACTCTAACCTTAATCCCTAAATCGGCCCAGCTGTGAAAGGATCCAGCTGTGAAATCATAGTAGCTTTTCAGGTTGCCTGATACCATCTAGAAGGGAAACATCCCTCCAACCTAAACTAGAACGAAACTTTCATATTGGATACGGACAGAACACCCAAAGGCCAAGGAGCTTGCACTTCGTGGAGCTCTTAGGCGGGCTGTTCCACAGTTGTGTGTGTGTCTGAGTCTCCTGCTTGCTGACCAATGTTTGAGGGTGTGGTCAAATGGATCTGAAACTTGTTTTCTTCATACATGGTAGCGAGGCTCTGAGGGAAGTACTAACCCTCGCCAATCTCTGATCATCGGCCACCAGCAAAGCTACCAAGAGAAACTACTAGCAGTGCTTGACCAAGCCGGCCCGGGGCGCAACTGGCAGGCGCCGTTACGCCGCGTTGACCACATCCGAAAATAGATGAAGCCTTTGAGAGGCTGAAGAGCCCGACTGGGACAAGGCGTGTGCTGGCCGCCCCCTCGCTGGCTTCCCACAGGCTGCAGCTCCTTGCTCCAGGGCCGGCCCCCTCCTGTCCTCTCTCCAGCCCCCAGCGCCCCGGGAGCGGGCGACGCGCAGCCCTCACTCACCTTTGTGGCAGTGGGACAGGAAGTAGGCGCGGGCCCTCAGGTTCTCCCTATCGAAGCGGTCTATGGAGATAGTTGGATACTCGGCCATCTGCCCCTCGAAAGAACTCGTAGCGCCGCCGATCCCAGAGTCCGGGACCCCAAAACCGCAGCTGAAGCCAAGGCCAGCCCTGACCGCGCCGCCACTTCCGGGAAGCCGCGCGCTGCCTCGCCATTGGGCGGCCGAACGCAGCCACGTCCAATCAGAGGAGTCCGGAGACCGGGGGCAAAGTCAAGGAGCATCCGGTCGGGTTCTAGGCGCCCGCTGCTTGGGTTTAAATCACCCGCGCTTCGCTGCACGCGATGGGCCCTGAGCCCTGCCCAGTGCAAGGCTCATTCCCGCCCAACAAACACAGGTGTTGCTCTGGTAAGGCGTTGCCCATGTCTGTGGAGGTGCAGTCGCGGGAAGGGAAATCGAAACTCCCAGAGCAGGTGGCCCCAGCCGACGAGGTGAGTGGGCTGCGGAACTGCGCTTAGAAATCATTCTTCGTTCCGCTTCCTGCTTGTCTGCTGCTAGCCTGAAACCCGAGCTCAGTTCCCCGCCCTCTCTCTTCTGTTCCCAATTTCTAACCTTGTGGGATTACCGTGAGGGTTGTATGAGAAAGTTTGTATCTGACTCATGGTAGATTCAGGAACTATTAATTCCCTCTTCCGTTTATATAATCTACAAACTGAATAAATCATCTCTGCGTGATCTTGGGGCAAATAAGATCCCAATAATGCCTTCGCTGCTGGCCTCTCCCCTGGGCCCCCACCTTTTTGAGCTATACTTTTAGGAAGTTAGAATGATGTACTTAAAAAAAGAAAAATGGCAGGAAAGGTCTAAAATTTTTTAACAACCAAAGCAACTTTATGAAAAGGTTTGTTAAACCTTTTATTGTATTTCCTTTATTGTATTACAATAAACCAAATAATCACCATGACATTTATTGTGCTCCTTCCTATCAAATCTCCTTAGTATAATTAAACACAAACAACCCAGAACACTTTCGCTTTATTTTATTTATTTATTCAGTTGGGGTCTAGTTCTATCGCCCAGGCTGGAGTGCAGTGGCGTGATTTCGGCTCTCTGCAACCTCCGCCTCCCGGGTTCAGGCGATTCTCCTGCCTCAGCCTCCAGAGTAGCTGGGACTACAGGCACGCGCCGCCACGCCTGGCTCATTTTTATATTTTTAGCAGAGACGGGGTTTCACCACGTTGACCAGGCTGGTCTCGAGCTCCTGGCCTCATGCGATCCGCTCGCCTCGGCCTCCCAAAGTGCTGGGTGAGCCATTGTACCTGGCTTTCCAGGCCTCCATAACACTTGAAGTCCCACTTTGTGCACAGCACTGTGACAAACCTTCGGGTAGCATTCAATCTATCTGGCGACAACATGTTTGCAGAATATGGCAAATAAATGCTTCCACAGAGACGCAAGGTAACGTGAGAACAAATCCAGGAACAAAGATTTCTGACCAGGGAAATCAGGAATCAGAATGCCATCCCAGCCCACCTCAGTGGCTCATGCCTGTAATCCCAGCACTTTGGAGGGCTGAGGCAGGTGATCACCTGAGGTCAGGAGTTCAGGACCAGCCTGGACAACATGGTGAAACCCCATCTCTACTAAAAATACAAAAATCGGCCGGGCATGGTGGCACACATCTCCAGCTACTCGGGAGGCCGAGGCAGGAGAATCACTTGAACCTGGGAGGCGGAGGTTGCAGTGAGCCTAGATCATGCCAGTTCACTCCAGCCTGGGCAACAGAGAGAGACTCTGTCTCAAAAAAACAAAACAAAACAGAATGACATCCCTAGTGAATGTCAGCTTGTGCCTGTAGCCATGATACTCAGAGTTCTATTCAAATACAGATTTCCATGAAATCTTGAGGAGGGGGAGGAGGGGTGACATGGAAAGGTATACACAACATAATCACTAATTGAGGTAAAATATCCTGCTAGTATACTACTGGCAACACCTTTGATGGTTTGTCTTAGAACACATGGGAACAACTGCCCTGGCAGGGTTATGGAGACCTAACAACAAATTCTGCTGTGAGTCTAGTGTCCGAAGAATCTCACGGTAGAGCTCCAGGAAAGGCAGGTCAAGTTAATGCTCGTGATCTTATGTATTTGCTCACTT
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Task1_train_13671
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This variant affects gene ITGA8 (integrin subunit alpha 8) located on Chromosome 10. Evaluate its biological effect and specify any disease association.
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Pathogenic; Renal hypodysplasia/aplasia 1
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ATTACTAACATTGCACAGACTTTAGCTTCCTTTTCCCTTCCTGCTGCTTTTAAATTTTTTCTCCCTGAAGGGAGTATTCCTGGGGAGAAAAGTTGACTCATGCCTCTGTCCTTCCTGGCTCTCATTTGGGACGTGTTTAGCCTTGGAAGGAAGTCAAAGGACTGGCTATGTGATGGATACATCCTCTATTTCCTTTGCCTCATCAAAGGCACAGCCTTTCTGTCAATTTTCCTGGTACTAAGGGTGGGAAGGAGACCTATGACTACCATAATAAATAGCAGTAACTTTCTAATTGTTTACCTAAAATGCAACCCAGGAGTTGAATTTCATTAATCACCCTGACATTTTTGGGGTAGGAATTACATAAGGGACCTAGATTTTTGAATTATTTTAAATTTGGATATATTATGTATACAAACCTCTCCCCAGTAATAACAACTAACCACCATTGATTAGCATAATGTAACCTAAGAAAATAAATTTAACTAGATGTTCTTGAAATTGCCACAGGTAGGAAGCATTAGTATACGATATAATACCAAATCCACTTTGAGCCCACTATGACGTCTCCATTAGTGTCATAAAAGGTTTATGGCAAATTTATAAGAATATGTTGCGGTATCCTTTTTGTCTAATCCCAGAGGAGAGAAGAAAGCCAAAGGCCTGAAATTAATGATGTATATTTAGGCAGTCAGCTTACTGGATGCTGCCCCAAACCAAAAAATAGCTCTACATATGGAAAATTCCCAATCAGGGGAGGGGCTAGTGGAAAGAGACAAGGTTTTTATAAGTAGTTGAAACTGTCATTTAACTATTAATGACTTCTAAGTATTTATTGAAACCATCTTAAACATAAAAGTGAAAATCAAACCCTAAAACCAAGAAGTCTGATGTTCTCTGCTAAAAAACCTGGACAGTGAAATAATCTTTTAAGACAAATCAATGTCTTCATATAGCATGCACAATACATAAATTACCTGTGCCTCATGGCTTTCCATGTGCCTTCAATGTGAATTAGGTAAATCAAGAATAGTTATGGTTCCTATCATGAACCAGTTCTTTTTTTCTCCACTTTAAAATGTTCAGTCTATCTTTGGAAAACCACAAAATATGGCTGGAAGAGATACATATATTTTTTGAGACAGTCTCACTCTGTCGCCCAGGTTAGAGCTCAGTGGCTCGATCTTGGCTCAGTGCAGCCTCCGCCTCCCGGGTTCAGGTGATTCTTGTGCCTCAGCCTCTAGAGTAACTGGGACTACAGGCATGCATCACCATGCCCAGCTAATTTTTGTATTATTAGTAGAGACGGGGTTTTACCATGTTGGCCAGGCTGGTCTCGAACTCCTGACCTCAACTGATCCACCCACCTCGGCCTCCTAAATACTGATGAGATTACAGGCATGAGCCACCATGATGGGCCAAGCTGGAAAATATTTATGCTTTAAAAACATGAGCTTCATGACAGACACGTTGAGGTTCATGCTATAATAGGAGCTATGAGCTCAAAAGGGTTAAAATAATTTGCGCCAGAAAGGATGCAAGCTGTCTATGTCAGTGCAAGCCGCGGTATTGAGGAGTTTCAAATGAAAACTTGGGTTGTGAAGTTGACAAGTTTTATGTACAATGCAGATTGTTAAGCCATTCTGCCTTTCTATCATTGTCTCTTGACAGGAGAAGGAAGCGTGTGTTTGTCTTTCTTCAAGTTCTCATGAAAGTCGCTCTGGAATCGTACATTAAAAAAGCCTGTGGCATGCTTAAGCTTCAGCCTCATCTGTAGAAGAAAACTGCCTTTGCATGATGCATTTTTCAGAAAATGGACTCTATTTCAGGACGTAGACTCTCACGTGGGAAAAGAAAGAAAACCTTACCTGGGTAATCATTCTTGTCTATGTCTGAATCTCCTCTTAAAGTAAAGCCAAATCCGGAAGGGACAGCATGTGAGGCCCACACTCCTTGCAGAACTTGGGAAGGCTTGGTGTTTAAGCCATCTTTGTTCCCATTATAAATGAGCACTTTGCCTCTTTGATCCTTGCCTGCAAAAGGCACTCCGATGGCAATGTCTAAAAACAGACATAAAACATGTTTTATGTGTATATGTATTTAATTCTTCATTTGTTCATTTTAGAGACAGGACCTTACTCTGTCACCCAAGCTGGAGTGCAGTGGTGGGATCATGGCTCACCGCAGCCCCACACTCCCGGACTCAAGTGATCCTCCTGCCTCAACTTCTCTAGGAGCTGGGACTACAGGTGCATACCACCATGTCAGGCTAATATATATATATATATATATATATATATATATATATATATATATATATATATATATATAGAATTTTTTTTTTTTTTTGAGCAATGGGTCCTTGCTTTGTTGCCCAGGATGGTCTGGAATTCCTGGCCTCAAGTGATCACCCCACCTCAGCCTCCCACACTGTTGGGATTAAAGGCATGAGCCACTGTGCTTGGCCATAGAGACGTTTCTTTTTTAAGTACAGAAGAATGGTTCAGAAATAGTTTAGTATACTCAAAAAGCAGTATCGAAACTCTAAAGGGCTTATAATGTTTTCCATGAAAATTCTGTAGTACTGCTGCAATGACAAATTATTTGTTGCCTTTTATCCATCCAACAAATATTTATTAAGAGCCTCCAGGGCCTGGCGCGGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCATGAGGTCAGGAGATCGAGACCATCCTGGCTAACACAGTAAAACCCCATCTCTACTAAAAATACAAAAAATTAGCCTGGCGTAGTGGCGGGCGCCTGTAATCCCAGCTACTCGGGAGGCTGAGGCAGAGAATTGCTTGAACCTGGGAGGTGGAGGTTGTGGTGAGCAGTGAGTTGAGATCGTGCCACTGCACTCTAGCCTGGGTGACAGACTCTGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAGATGATCTAAAAACTCAGATTTTTGTAGAAAATAAAGATATTGTCTTGTGTCAGGCGAAAAGGAACACTTTCGACACTTTCTTAACTTTCTCTAAGTCACTGCCTTGACTCCCATCCCCTTGTTTACTCTCAGTGAATTTCACATGATTTTACCTACTTTGTATACTCAAGGACACCAAAGCTCAGAGAAGCTAGGACCTCCCTTTATGTCATTTAGAATGCTTCTTTTATCTTTTAAAAATACTATTAAAGGTTTGAGAGAAAAGACAAATAGAAGAAAATATGATTTTAAACGACAGCTCCATAGATAATTTAGCACTATTTATTTTACTTGAGTGATCAGGAATAGAGCAGCTTTACAGAGTAGCAAGTCACTTAAAGGTAAGCTTGTCTTTTAAAAAATTTCCCTGGAACCATAAGCTTTTTACATGTACTTTGTTTTATGATACTTTAAAATTTACTAACCATATGTTGCTGAGAACTTTTTTTCAAAGAATGTGTAAGAGAACAGAAACATTGGCCAAATATACTAATGAATACTAATCTGATGTGAATACTTCCAAGGCTACTTTGTTACAGCAAGTTCCTGTTACTTCCTTGAGTTCAATCAAGAAATTCACTATGCTCGGTTCTTAACTAAAGAACCTGAAGTGCATTTAAGAAAATGCATACATTTTCAGGTCCTGAAAATGTATGCAAACTTTTGTGTGAAGGTGTGTGTTTTTCTGAGGAGAGGGTACTTGGAGGGGTTTCATAAATTCTAACCTAAAGAACTACAAGCCTAACCTACGAGTTTAACACTACTTTGTTGCAAATATTGAAACTAAGGTGAAGCCTACGTGCCAATTAAAATTCAGTATAACCTGTACATAACCCATGTAGGCTGATCAGAAGTCAGGATACTTGCTAATATATCAACATGTATTTATTTGTCTTGACATATAGAAGGTTTCCTAGTTACCTTTAAGTCACCAAATCCAAACATCAATTTTAAAAATAATTCCTGCCTCTACTGAGAGCTATTACAGGATAGCCAACATCAAATGTGAGAAAATTGCTTGGACGTCAGAGCAATGACGATTTTTGTATTAACTTTGGCTTTAAAGTTTTAATTCTTAAAACTGAATAAGAAATATTTCT
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ATTACTAACATTGCACAGACTTTAGCTTCCTTTTCCCTTCCTGCTGCTTTTAAATTTTTTCTCCCTGAAGGGAGTATTCCTGGGGAGAAAAGTTGACTCATGCCTCTGTCCTTCCTGGCTCTCATTTGGGACGTGTTTAGCCTTGGAAGGAAGTCAAAGGACTGGCTATGTGATGGATACATCCTCTATTTCCTTTGCCTCATCAAAGGCACAGCCTTTCTGTCAATTTTCCTGGTACTAAGGGTGGGAAGGAGACCTATGACTACCATAATAAATAGCAGTAACTTTCTAATTGTTTACCTAAAATGCAACCCAGGAGTTGAATTTCATTAATCACCCTGACATTTTTGGGGTAGGAATTACATAAGGGACCTAGATTTTTGAATTATTTTAAATTTGGATATATTATGTATACAAACCTCTCCCCAGTAATAACAACTAACCACCATTGATTAGCATAATGTAACCTAAGAAAATAAATTTAACTAGATGTTCTTGAAATTGCCACAGGTAGGAAGCATTAGTATACGATATAATACCAAATCCACTTTGAGCCCACTATGACGTCTCCATTAGTGTCATAAAAGGTTTATGGCAAATTTATAAGAATATGTTGCGGTATCCTTTTTGTCTAATCCCAGAGGAGAGAAGAAAGCCAAAGGCCTGAAATTAATGATGTATATTTAGGCAGTCAGCTTACTGGATGCTGCCCCAAACCAAAAAATAGCTCTACATATGGAAAATTCCCAATCAGGGGAGGGGCTAGTGGAAAGAGACAAGGTTTTTATAAGTAGTTGAAACTGTCATTTAACTATTAATGACTTCTAAGTATTTATTGAAACCATCTTAAACATAAAAGTGAAAATCAAACCCTAAAACCAAGAAGTCTGATGTTCTCTGCTAAAAAACCTGGACAGTGAAATAATCTTTTAAGACAAATCAATGTCTTCATATAGCATGCACAATACATAAATTACCTGTGCCTCATGGCTTTCCATGTGCCTTCAATGTGAATTAGGTAAATCAAGAATAGTTATGGTTCCTATCATGAACCAGTTCTTTTTTTCTCCACTTTAAAATGTTCAGTCTATCTTTGGAAAACCACAAAATATGGCTGGAAGAGATACATATATTTTTTGAGACAGTCTCACTCTGTCGCCCAGGTTAGAGCTCAGTGGCTCGATCTTGGCTCAGTGCAGCCTCCGCCTCCCGGGTTCAGGTGATTCTTGTGCCTCAGCCTCTAGAGTAACTGGGACTACAGGCATGCATCACCATGCCCAGCTAATTTTTGTATTATTAGTAGAGACGGGGTTTTACCATGTTGGCCAGGCTGGTCTCGAACTCCTGACCTCAACTGATCCACCCACCTCGGCCTCCTAAATACTGATGAGATTACAGGCATGAGCCACCATGATGGGCCAAGCTGGAAAATATTTATGCTTTAAAAACATGAGCTTCATGACAGACACGTTGAGGTTCATGCTATAATAGGAGCTATGAGCTCAAAAGGGTTAAAATAATTTGCGCCAGAAAGGATGCAAGCTGTCTATGTCAGTGCAAGCCGCGGTATTGAGGAGTTTCAAATGAAAACTTGGGTTGTGAAGTTGACAAGTTTTATGTACAATGCAGATTGTTAAGCCATTCTGCCTTTCTATCATTGTCTCTTGACAGGAGAAGGAAGCGTGTGTTTGTCTTTCTTCAAGTTCTCATGAAAGTCGCTCTGGAATCGTACATTAAAAAAGCCTGTGGCATGCTTAAGCTTCAGCCTCATCTGTAGAAGAAAACTGCCTTTGCATGATGCATTTTTCAGAAAATGGACTCTATTTCAGGACGTAGACTCTCACGTGGGAAAAGAAAGAAAACCTTACCTGGGTAATCATTCTTGTCTATGTCTGAATCTCCTCTTAAAGTAAAGCCAAATCCGGAAGGGACAGCATGTGAGGCCCACACTCCTTGCAGAACTTGGGAAGGCTTGGTGTTTAAGCCATCTTTGTTCCCATTATAAATGAGCACTTTGCCTCTTTGATCCTTGCCTGCAAAAGGCACTCTGATGGCAATGTCTAAAAACAGACATAAAACATGTTTTATGTGTATATGTATTTAATTCTTCATTTGTTCATTTTAGAGACAGGACCTTACTCTGTCACCCAAGCTGGAGTGCAGTGGTGGGATCATGGCTCACCGCAGCCCCACACTCCCGGACTCAAGTGATCCTCCTGCCTCAACTTCTCTAGGAGCTGGGACTACAGGTGCATACCACCATGTCAGGCTAATATATATATATATATATATATATATATATATATATATATATATATATATATATATATAGAATTTTTTTTTTTTTTTGAGCAATGGGTCCTTGCTTTGTTGCCCAGGATGGTCTGGAATTCCTGGCCTCAAGTGATCACCCCACCTCAGCCTCCCACACTGTTGGGATTAAAGGCATGAGCCACTGTGCTTGGCCATAGAGACGTTTCTTTTTTAAGTACAGAAGAATGGTTCAGAAATAGTTTAGTATACTCAAAAAGCAGTATCGAAACTCTAAAGGGCTTATAATGTTTTCCATGAAAATTCTGTAGTACTGCTGCAATGACAAATTATTTGTTGCCTTTTATCCATCCAACAAATATTTATTAAGAGCCTCCAGGGCCTGGCGCGGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCATGAGGTCAGGAGATCGAGACCATCCTGGCTAACACAGTAAAACCCCATCTCTACTAAAAATACAAAAAATTAGCCTGGCGTAGTGGCGGGCGCCTGTAATCCCAGCTACTCGGGAGGCTGAGGCAGAGAATTGCTTGAACCTGGGAGGTGGAGGTTGTGGTGAGCAGTGAGTTGAGATCGTGCCACTGCACTCTAGCCTGGGTGACAGACTCTGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAGATGATCTAAAAACTCAGATTTTTGTAGAAAATAAAGATATTGTCTTGTGTCAGGCGAAAAGGAACACTTTCGACACTTTCTTAACTTTCTCTAAGTCACTGCCTTGACTCCCATCCCCTTGTTTACTCTCAGTGAATTTCACATGATTTTACCTACTTTGTATACTCAAGGACACCAAAGCTCAGAGAAGCTAGGACCTCCCTTTATGTCATTTAGAATGCTTCTTTTATCTTTTAAAAATACTATTAAAGGTTTGAGAGAAAAGACAAATAGAAGAAAATATGATTTTAAACGACAGCTCCATAGATAATTTAGCACTATTTATTTTACTTGAGTGATCAGGAATAGAGCAGCTTTACAGAGTAGCAAGTCACTTAAAGGTAAGCTTGTCTTTTAAAAAATTTCCCTGGAACCATAAGCTTTTTACATGTACTTTGTTTTATGATACTTTAAAATTTACTAACCATATGTTGCTGAGAACTTTTTTTCAAAGAATGTGTAAGAGAACAGAAACATTGGCCAAATATACTAATGAATACTAATCTGATGTGAATACTTCCAAGGCTACTTTGTTACAGCAAGTTCCTGTTACTTCCTTGAGTTCAATCAAGAAATTCACTATGCTCGGTTCTTAACTAAAGAACCTGAAGTGCATTTAAGAAAATGCATACATTTTCAGGTCCTGAAAATGTATGCAAACTTTTGTGTGAAGGTGTGTGTTTTTCTGAGGAGAGGGTACTTGGAGGGGTTTCATAAATTCTAACCTAAAGAACTACAAGCCTAACCTACGAGTTTAACACTACTTTGTTGCAAATATTGAAACTAAGGTGAAGCCTACGTGCCAATTAAAATTCAGTATAACCTGTACATAACCCATGTAGGCTGATCAGAAGTCAGGATACTTGCTAATATATCAACATGTATTTATTTGTCTTGACATATAGAAGGTTTCCTAGTTACCTTTAAGTCACCAAATCCAAACATCAATTTTAAAAATAATTCCTGCCTCTACTGAGAGCTATTACAGGATAGCCAACATCAAATGTGAGAAAATTGCTTGGACGTCAGAGCAATGACGATTTTTGTATTAACTTTGGCTTTAAAGTTTTAATTCTTAAAACTGAATAAGAAATATTTCT
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Task1_train_13672
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A variant on Chromosome 10 in gene ITGA8 (integrin subunit alpha 8) has been observed. Is this a neutral mutation, or does it result in a disease? If so, which one?
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Pathogenic; ITGA8-related disorder
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ATTACTAACATTGCACAGACTTTAGCTTCCTTTTCCCTTCCTGCTGCTTTTAAATTTTTTCTCCCTGAAGGGAGTATTCCTGGGGAGAAAAGTTGACTCATGCCTCTGTCCTTCCTGGCTCTCATTTGGGACGTGTTTAGCCTTGGAAGGAAGTCAAAGGACTGGCTATGTGATGGATACATCCTCTATTTCCTTTGCCTCATCAAAGGCACAGCCTTTCTGTCAATTTTCCTGGTACTAAGGGTGGGAAGGAGACCTATGACTACCATAATAAATAGCAGTAACTTTCTAATTGTTTACCTAAAATGCAACCCAGGAGTTGAATTTCATTAATCACCCTGACATTTTTGGGGTAGGAATTACATAAGGGACCTAGATTTTTGAATTATTTTAAATTTGGATATATTATGTATACAAACCTCTCCCCAGTAATAACAACTAACCACCATTGATTAGCATAATGTAACCTAAGAAAATAAATTTAACTAGATGTTCTTGAAATTGCCACAGGTAGGAAGCATTAGTATACGATATAATACCAAATCCACTTTGAGCCCACTATGACGTCTCCATTAGTGTCATAAAAGGTTTATGGCAAATTTATAAGAATATGTTGCGGTATCCTTTTTGTCTAATCCCAGAGGAGAGAAGAAAGCCAAAGGCCTGAAATTAATGATGTATATTTAGGCAGTCAGCTTACTGGATGCTGCCCCAAACCAAAAAATAGCTCTACATATGGAAAATTCCCAATCAGGGGAGGGGCTAGTGGAAAGAGACAAGGTTTTTATAAGTAGTTGAAACTGTCATTTAACTATTAATGACTTCTAAGTATTTATTGAAACCATCTTAAACATAAAAGTGAAAATCAAACCCTAAAACCAAGAAGTCTGATGTTCTCTGCTAAAAAACCTGGACAGTGAAATAATCTTTTAAGACAAATCAATGTCTTCATATAGCATGCACAATACATAAATTACCTGTGCCTCATGGCTTTCCATGTGCCTTCAATGTGAATTAGGTAAATCAAGAATAGTTATGGTTCCTATCATGAACCAGTTCTTTTTTTCTCCACTTTAAAATGTTCAGTCTATCTTTGGAAAACCACAAAATATGGCTGGAAGAGATACATATATTTTTTGAGACAGTCTCACTCTGTCGCCCAGGTTAGAGCTCAGTGGCTCGATCTTGGCTCAGTGCAGCCTCCGCCTCCCGGGTTCAGGTGATTCTTGTGCCTCAGCCTCTAGAGTAACTGGGACTACAGGCATGCATCACCATGCCCAGCTAATTTTTGTATTATTAGTAGAGACGGGGTTTTACCATGTTGGCCAGGCTGGTCTCGAACTCCTGACCTCAACTGATCCACCCACCTCGGCCTCCTAAATACTGATGAGATTACAGGCATGAGCCACCATGATGGGCCAAGCTGGAAAATATTTATGCTTTAAAAACATGAGCTTCATGACAGACACGTTGAGGTTCATGCTATAATAGGAGCTATGAGCTCAAAAGGGTTAAAATAATTTGCGCCAGAAAGGATGCAAGCTGTCTATGTCAGTGCAAGCCGCGGTATTGAGGAGTTTCAAATGAAAACTTGGGTTGTGAAGTTGACAAGTTTTATGTACAATGCAGATTGTTAAGCCATTCTGCCTTTCTATCATTGTCTCTTGACAGGAGAAGGAAGCGTGTGTTTGTCTTTCTTCAAGTTCTCATGAAAGTCGCTCTGGAATCGTACATTAAAAAAGCCTGTGGCATGCTTAAGCTTCAGCCTCATCTGTAGAAGAAAACTGCCTTTGCATGATGCATTTTTCAGAAAATGGACTCTATTTCAGGACGTAGACTCTCACGTGGGAAAAGAAAGAAAACCTTACCTGGGTAATCATTCTTGTCTATGTCTGAATCTCCTCTTAAAGTAAAGCCAAATCCGGAAGGGACAGCATGTGAGGCCCACACTCCTTGCAGAACTTGGGAAGGCTTGGTGTTTAAGCCATCTTTGTTCCCATTATAAATGAGCACTTTGCCTCTTTGATCCTTGCCTGCAAAAGGCACTCCGATGGCAATGTCTAAAAACAGACATAAAACATGTTTTATGTGTATATGTATTTAATTCTTCATTTGTTCATTTTAGAGACAGGACCTTACTCTGTCACCCAAGCTGGAGTGCAGTGGTGGGATCATGGCTCACCGCAGCCCCACACTCCCGGACTCAAGTGATCCTCCTGCCTCAACTTCTCTAGGAGCTGGGACTACAGGTGCATACCACCATGTCAGGCTAATATATATATATATATATATATATATATATATATATATATATATATATATATATATATAGAATTTTTTTTTTTTTTTGAGCAATGGGTCCTTGCTTTGTTGCCCAGGATGGTCTGGAATTCCTGGCCTCAAGTGATCACCCCACCTCAGCCTCCCACACTGTTGGGATTAAAGGCATGAGCCACTGTGCTTGGCCATAGAGACGTTTCTTTTTTAAGTACAGAAGAATGGTTCAGAAATAGTTTAGTATACTCAAAAAGCAGTATCGAAACTCTAAAGGGCTTATAATGTTTTCCATGAAAATTCTGTAGTACTGCTGCAATGACAAATTATTTGTTGCCTTTTATCCATCCAACAAATATTTATTAAGAGCCTCCAGGGCCTGGCGCGGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCATGAGGTCAGGAGATCGAGACCATCCTGGCTAACACAGTAAAACCCCATCTCTACTAAAAATACAAAAAATTAGCCTGGCGTAGTGGCGGGCGCCTGTAATCCCAGCTACTCGGGAGGCTGAGGCAGAGAATTGCTTGAACCTGGGAGGTGGAGGTTGTGGTGAGCAGTGAGTTGAGATCGTGCCACTGCACTCTAGCCTGGGTGACAGACTCTGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAGATGATCTAAAAACTCAGATTTTTGTAGAAAATAAAGATATTGTCTTGTGTCAGGCGAAAAGGAACACTTTCGACACTTTCTTAACTTTCTCTAAGTCACTGCCTTGACTCCCATCCCCTTGTTTACTCTCAGTGAATTTCACATGATTTTACCTACTTTGTATACTCAAGGACACCAAAGCTCAGAGAAGCTAGGACCTCCCTTTATGTCATTTAGAATGCTTCTTTTATCTTTTAAAAATACTATTAAAGGTTTGAGAGAAAAGACAAATAGAAGAAAATATGATTTTAAACGACAGCTCCATAGATAATTTAGCACTATTTATTTTACTTGAGTGATCAGGAATAGAGCAGCTTTACAGAGTAGCAAGTCACTTAAAGGTAAGCTTGTCTTTTAAAAAATTTCCCTGGAACCATAAGCTTTTTACATGTACTTTGTTTTATGATACTTTAAAATTTACTAACCATATGTTGCTGAGAACTTTTTTTCAAAGAATGTGTAAGAGAACAGAAACATTGGCCAAATATACTAATGAATACTAATCTGATGTGAATACTTCCAAGGCTACTTTGTTACAGCAAGTTCCTGTTACTTCCTTGAGTTCAATCAAGAAATTCACTATGCTCGGTTCTTAACTAAAGAACCTGAAGTGCATTTAAGAAAATGCATACATTTTCAGGTCCTGAAAATGTATGCAAACTTTTGTGTGAAGGTGTGTGTTTTTCTGAGGAGAGGGTACTTGGAGGGGTTTCATAAATTCTAACCTAAAGAACTACAAGCCTAACCTACGAGTTTAACACTACTTTGTTGCAAATATTGAAACTAAGGTGAAGCCTACGTGCCAATTAAAATTCAGTATAACCTGTACATAACCCATGTAGGCTGATCAGAAGTCAGGATACTTGCTAATATATCAACATGTATTTATTTGTCTTGACATATAGAAGGTTTCCTAGTTACCTTTAAGTCACCAAATCCAAACATCAATTTTAAAAATAATTCCTGCCTCTACTGAGAGCTATTACAGGATAGCCAACATCAAATGTGAGAAAATTGCTTGGACGTCAGAGCAATGACGATTTTTGTATTAACTTTGGCTTTAAAGTTTTAATTCTTAAAACTGAATAAGAAATATTTCT
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ATTACTAACATTGCACAGACTTTAGCTTCCTTTTCCCTTCCTGCTGCTTTTAAATTTTTTCTCCCTGAAGGGAGTATTCCTGGGGAGAAAAGTTGACTCATGCCTCTGTCCTTCCTGGCTCTCATTTGGGACGTGTTTAGCCTTGGAAGGAAGTCAAAGGACTGGCTATGTGATGGATACATCCTCTATTTCCTTTGCCTCATCAAAGGCACAGCCTTTCTGTCAATTTTCCTGGTACTAAGGGTGGGAAGGAGACCTATGACTACCATAATAAATAGCAGTAACTTTCTAATTGTTTACCTAAAATGCAACCCAGGAGTTGAATTTCATTAATCACCCTGACATTTTTGGGGTAGGAATTACATAAGGGACCTAGATTTTTGAATTATTTTAAATTTGGATATATTATGTATACAAACCTCTCCCCAGTAATAACAACTAACCACCATTGATTAGCATAATGTAACCTAAGAAAATAAATTTAACTAGATGTTCTTGAAATTGCCACAGGTAGGAAGCATTAGTATACGATATAATACCAAATCCACTTTGAGCCCACTATGACGTCTCCATTAGTGTCATAAAAGGTTTATGGCAAATTTATAAGAATATGTTGCGGTATCCTTTTTGTCTAATCCCAGAGGAGAGAAGAAAGCCAAAGGCCTGAAATTAATGATGTATATTTAGGCAGTCAGCTTACTGGATGCTGCCCCAAACCAAAAAATAGCTCTACATATGGAAAATTCCCAATCAGGGGAGGGGCTAGTGGAAAGAGACAAGGTTTTTATAAGTAGTTGAAACTGTCATTTAACTATTAATGACTTCTAAGTATTTATTGAAACCATCTTAAACATAAAAGTGAAAATCAAACCCTAAAACCAAGAAGTCTGATGTTCTCTGCTAAAAAACCTGGACAGTGAAATAATCTTTTAAGACAAATCAATGTCTTCATATAGCATGCACAATACATAAATTACCTGTGCCTCATGGCTTTCCATGTGCCTTCAATGTGAATTAGGTAAATCAAGAATAGTTATGGTTCCTATCATGAACCAGTTCTTTTTTTCTCCACTTTAAAATGTTCAGTCTATCTTTGGAAAACCACAAAATATGGCTGGAAGAGATACATATATTTTTTGAGACAGTCTCACTCTGTCGCCCAGGTTAGAGCTCAGTGGCTCGATCTTGGCTCAGTGCAGCCTCCGCCTCCCGGGTTCAGGTGATTCTTGTGCCTCAGCCTCTAGAGTAACTGGGACTACAGGCATGCATCACCATGCCCAGCTAATTTTTGTATTATTAGTAGAGACGGGGTTTTACCATGTTGGCCAGGCTGGTCTCGAACTCCTGACCTCAACTGATCCACCCACCTCGGCCTCCTAAATACTGATGAGATTACAGGCATGAGCCACCATGATGGGCCAAGCTGGAAAATATTTATGCTTTAAAAACATGAGCTTCATGACAGACACGTTGAGGTTCATGCTATAATAGGAGCTATGAGCTCAAAAGGGTTAAAATAATTTGCGCCAGAAAGGATGCAAGCTGTCTATGTCAGTGCAAGCCGCGGTATTGAGGAGTTTCAAATGAAAACTTGGGTTGTGAAGTTGACAAGTTTTATGTACAATGCAGATTGTTAAGCCATTCTGCCTTTCTATCATTGTCTCTTGACAGGAGAAGGAAGCGTGTGTTTGTCTTTCTTCAAGTTCTCATGAAAGTCGCTCTGGAATCGTACATTAAAAAAGCCTGTGGCATGCTTAAGCTTCAGCCTCATCTGTAGAAGAAAACTGCCTTTGCATGATGCATTTTTCAGAAAATGGACTCTATTTCAGGACGTAGACTCTCACGTGGGAAAAGAAAGAAAACCTTACCTGGGTAATCATTCTTGTCTATGTCTGAATCTCCTCTTAAAGTAAAGCCAAATCCGGAAGGGACAGCATGTGAGGCCCACACTCCTTGCAGAACTTGGGAAGGCTTGGTGTTTAAGCCATCTTTGTTCCCATTATAAATGAGCACTTTGCCTCTTTGATCCTTGCCTGCAAAAGGCACTCTGATGGCAATGTCTAAAAACAGACATAAAACATGTTTTATGTGTATATGTATTTAATTCTTCATTTGTTCATTTTAGAGACAGGACCTTACTCTGTCACCCAAGCTGGAGTGCAGTGGTGGGATCATGGCTCACCGCAGCCCCACACTCCCGGACTCAAGTGATCCTCCTGCCTCAACTTCTCTAGGAGCTGGGACTACAGGTGCATACCACCATGTCAGGCTAATATATATATATATATATATATATATATATATATATATATATATATATATATATATATAGAATTTTTTTTTTTTTTTGAGCAATGGGTCCTTGCTTTGTTGCCCAGGATGGTCTGGAATTCCTGGCCTCAAGTGATCACCCCACCTCAGCCTCCCACACTGTTGGGATTAAAGGCATGAGCCACTGTGCTTGGCCATAGAGACGTTTCTTTTTTAAGTACAGAAGAATGGTTCAGAAATAGTTTAGTATACTCAAAAAGCAGTATCGAAACTCTAAAGGGCTTATAATGTTTTCCATGAAAATTCTGTAGTACTGCTGCAATGACAAATTATTTGTTGCCTTTTATCCATCCAACAAATATTTATTAAGAGCCTCCAGGGCCTGGCGCGGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCATGAGGTCAGGAGATCGAGACCATCCTGGCTAACACAGTAAAACCCCATCTCTACTAAAAATACAAAAAATTAGCCTGGCGTAGTGGCGGGCGCCTGTAATCCCAGCTACTCGGGAGGCTGAGGCAGAGAATTGCTTGAACCTGGGAGGTGGAGGTTGTGGTGAGCAGTGAGTTGAGATCGTGCCACTGCACTCTAGCCTGGGTGACAGACTCTGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAGATGATCTAAAAACTCAGATTTTTGTAGAAAATAAAGATATTGTCTTGTGTCAGGCGAAAAGGAACACTTTCGACACTTTCTTAACTTTCTCTAAGTCACTGCCTTGACTCCCATCCCCTTGTTTACTCTCAGTGAATTTCACATGATTTTACCTACTTTGTATACTCAAGGACACCAAAGCTCAGAGAAGCTAGGACCTCCCTTTATGTCATTTAGAATGCTTCTTTTATCTTTTAAAAATACTATTAAAGGTTTGAGAGAAAAGACAAATAGAAGAAAATATGATTTTAAACGACAGCTCCATAGATAATTTAGCACTATTTATTTTACTTGAGTGATCAGGAATAGAGCAGCTTTACAGAGTAGCAAGTCACTTAAAGGTAAGCTTGTCTTTTAAAAAATTTCCCTGGAACCATAAGCTTTTTACATGTACTTTGTTTTATGATACTTTAAAATTTACTAACCATATGTTGCTGAGAACTTTTTTTCAAAGAATGTGTAAGAGAACAGAAACATTGGCCAAATATACTAATGAATACTAATCTGATGTGAATACTTCCAAGGCTACTTTGTTACAGCAAGTTCCTGTTACTTCCTTGAGTTCAATCAAGAAATTCACTATGCTCGGTTCTTAACTAAAGAACCTGAAGTGCATTTAAGAAAATGCATACATTTTCAGGTCCTGAAAATGTATGCAAACTTTTGTGTGAAGGTGTGTGTTTTTCTGAGGAGAGGGTACTTGGAGGGGTTTCATAAATTCTAACCTAAAGAACTACAAGCCTAACCTACGAGTTTAACACTACTTTGTTGCAAATATTGAAACTAAGGTGAAGCCTACGTGCCAATTAAAATTCAGTATAACCTGTACATAACCCATGTAGGCTGATCAGAAGTCAGGATACTTGCTAATATATCAACATGTATTTATTTGTCTTGACATATAGAAGGTTTCCTAGTTACCTTTAAGTCACCAAATCCAAACATCAATTTTAAAAATAATTCCTGCCTCTACTGAGAGCTATTACAGGATAGCCAACATCAAATGTGAGAAAATTGCTTGGACGTCAGAGCAATGACGATTTTTGTATTAACTTTGGCTTTAAAGTTTTAATTCTTAAAACTGAATAAGAAATATTTCT
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Task1_train_13673
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A variant affecting Chromosome 10, within the gene CUBN (cubilin), has been observed. Determine if it's benign or associated with disease.
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Pathogenic; Imerslund-Grasbeck syndrome type 1
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CTATAATCCAGAAGAAGTGAGGAAGAAAAAATATATATATTTATTATGTATATATATTATAAATAAATATATGTAATTATATATAAAATATTATAAATATTCATTATATATAATATATTTATAAAATAAATTTATTTAATACATATATTTTTATATATGTATTCAACACATATGTTTATATTTGCATTAAATACATATATTTATATATGTATTAAATATTTATATGTAAACATAAATATATATAAAATAAATATATCTTTATATATAATAAATATATATTTTTTGTTATATATATGACATCACAAAAGAATAGCCATGAAATAAAATAACCTTATAAATTATATTTAGGTATTTATAAACTCAGGCCATAAACTCAGGCAATTAAGCTGTGGACATGTGCAGCAGTAATAAGCGTGTGAGCTTACACTGAAGGCTGAATATTGAAAATGAAAGCCCAATACATATTGTAATGCCACAGCTGATGTCAACTGTCCTCCTTGTTTTTTGATTCCATAGTTTATGATTCATGACACTTCAATACATTTTTATTTAGATTTTTAACAAATGAACAATGGTGAATTGCTGTACTGTGAAAAATCCTAGTGGAATGACTCATATTATCTTCTCTACTTCGCCAAAACTGTCTTCTAAATTGTGATTTTTCAATGCATATGTGGAAAAACATAAATAATGATTATAATAAATCCTGTAATCCCTTTCAGGAGATTTTCACCATATCTTAATAGTCTATCAATATATTTTAAATACTTAGTGTATCGAGCCATTGAGTACTTCGAAGATGGTCACTTTCACCAAATTTCTTTTATGTTTTTATTTTGTTTGAATTTTTATATGGATGTTCGGTTTAGATGCTCCCCTTTCCTGAATCTCGAAAATAAAAATAAGTGCATTGTGCGTTGGGTGAGATGGGAGCAGGGAACAATATGATGGAAACATTATACATACAGCCAGGTAATCTAAAGTGCAGTTTGGATGATGCTCCAAGTGAAAGTCTTTGAATTCCAGTTCAAATGCGCTGCCGTGGCTAGATTTCAACCACCAGTAGCATTCAGAGCTGTGGTAATAGGGCATCGGGTAGTTGGGAGATATGAACGTGCCGCTTGAAGTGGTGAGATTACCCCCGCAACCTACAGGAGAAAGAAGTGGAATGACACACACCCCTTTCCTTCTGGGGAAATTGAATCTTTTTGTCTGCATTAAACTGGTGCCATTCTACTATCCTTTAAATCAAATTGCACAGCAAAATGGCATCATGAAAGAGTAGTTATAGCCTAAAAATCCAATTTTTATTTTTTTCTATTTTTTTTTTTTTTTTTGAGATGGAGTCTCACTGGGTCACTCAGGCTGGAATGCAACGGCATGATCTTGACTCACTGCAATTTCCACCTCCTAGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCTAGTAGCTGAGATTATAGGCACCTGCCACCACGTCCAGCTAATTTTTGTATTTTTAGTAGAGACGGGGTTGGCCAGTAGAGACTATGTTTAGTAGAGACTATGTTGGCCAGGCTGGTTTCAAACTCCTGACCTCAGGTGATCCCCCTGCCTCGGCCTCCCAAAGTGTTTGTGAGTACAGGAGTGAGCCACAGCACCCAGCCCCAATTTCCATTAATGCAATTTCCTTATTCTAACCAGGATTCTTATTTATTGATAAAAAGAAACTAGAACTTTCTCCCTTTGTCTGTTAAAAAGAAATGGCTGCTGTTAATTTAAAATTATTTGCAATATTGAAGTTTAAATACAGCTGGGCAAACATGGACAAGTGAGGGACAGAGCATGACAATCCCAGAATCAAGAAACCAATCAGATTGGCTTCTCCAGTAAAAGACAGCTCTTTGCTATTTACCTGTTGATGACCCATCCCAGTAAGCTGAGAATCCAGACCTTGTGTCTATTTGGTCACTCTTAAATTTTAACCATAGTTTGTTACTATGAGAGATGATTGTTGGGGGTAGATTTGAGCCATAGAATATTCCCAGCAATGGTGATTTTTCATAGCCTCCATCTCTGGCAGAATACAGAAATTAAAATTTATTGGGTTACTGACAATATTACTGTATAAACATTTAACATAATTTGAACTTTGGGATTGCAAACATTAGCAGTTTATTGGATGAAGTAATTTCTCTCAAACACTACACTTACTCTAAAAAACACGATTTTCACTTTTAAATTTTTAAAAATCATATTTGAATGACTTAACAAAGAATAACCATCATTCATAGCTGGTATGGTGTTTTATATAACCAATCACAAACTGAGAGAATATGTTTAATCTTCACCCTTTCGAATAAAGCCTCTGGCAAATGTGTCAGAGAAAACACGATAAAGAAACTATACTATTAACTATATAAACATACTGCTGTATTTTACAGAGAATCTTTCAACGTTTTCCTTCTGATTTGGAAATTTTTGAAATGTAATATATCATATTTGATATACTTAGCAAAATTCTGGAAATAGCATTTTCCTAAAAACTTCTGGGGCCTTAATTCTAGTTTATAATCTGTAGCTTTTTGAAACAAACAACAAAAAAGGGATTTATTCAACATCAAAGTCCAGTGAGTAACTGCTGTAAATTAAGAAAATTATGTCATTTTAGCACGATAGGGTCCAATTATGATTTATTATTTTAATACCTTACTTTATATTATAGAATAACATTTATAATACATAAGATTCCAGATTTAAAATCCCAAATAAAACATTTGATATAGATGCCCACCAGAATGATTAGCCTAATTTAACTCAAAGTAGTGGCATGGAGAGATAGTAACATATAAGCTAACTTACTTTTACTGCAAATATAACTTTTTAAACACATTCTTTCAAAATGATGATAATGAAAGAATAATGCCTTGTACTGAAATTCACAAGCCTAGACTTTTATTACCTGAACATGAAAACTTTGTGAAAACTTTAAGATTGCTATCCTGCCATCATTTTATAATATAATTAGATTAAATGAACAGCAAACAGCCTAAAATTTACATCGATTTTACATAATTAAAGTAGGTATTCAACAGTAGCAAGTTACATCATTTCAGAGTAGTAGCACATCTGTTTCTTTGCCCACATAAAATCTGGAGTTTATTTTCAAGTATTTCCAATAAAATAATCACTTCAAAATAACCACAGAATCTTATGCAATTCCTGTATTTCTCCTAAGTCAGGCTCCAAATGACAAACTTTATTTCTTGCAAGAAAGTGCACAGCAGGGAGCTTTGCAGAGAATTTCCATATTTTTTTCCTTAATCTTCCTAGGAAAGATTATTAATGAGAATAAATAATGAAAAGATTATAATGAAATAAATAAAAGTGCTGACCTGATTTCCAGAAAATCTGTATAATAGTTTCCAATGGCTTCCTCCAAGGAGAAGTTTGTGAAGTGCACTGCAATCAGTTGGCCAGTTCTCACTGTGATCCGATAAATGCATTCCCAGTTGTTGGGATAATTATTGGGGAAGTTTGGAGAAGTGAATGTCCCCAAATCATCTGTGTAGTCTTGCAAACATGCTGTGAACAGAAACAGACCATAAGAGAGAAAATAGAAAATATTGATATGTTTATAATACATCCAGTAATATGTATTTCATTAATTTGTGCCTATACTTGATTTTCAATAAGCCATTCTGGAATGTGCAAATAAAGACTTCATTCTGAAACAAAGTTTTTGTAATCTTAAAGACAAAATAATTACCAACACTAAATCTAAGCTATGGAGAGGAAATTGTTATATATATCTTGAGTAAACAACCCTTTAAGTCTTGAAAGTGTTACGTTTTTCTAATCCTTGCAAATTACCATAAACATTAAAAATTAGGATCCACTGCAGGAGGGCCTAGAAATAATTCAGTCTTGCCTTTTCATAAGCTCCCTTTAAAGTGGTTTTCACCAAAGCATGCATTTATGAGAAATGACAAAGCAGGTACCTCCACCACGGGGTGAAGAATAAGGGCCCAGGCTCAAGGATCAGAGTGATCTCGAATGAAAACCCTCTCAAACACTGTCAAGCTCTGCAGCCTTGGGAGAGTTACTGTACTTCTCTA
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CTATAATCCAGAAGAAGTGAGGAAGAAAAAATATATATATTTATTATGTATATATATTATAAATAAATATATGTAATTATATATAAAATATTATAAATATTCATTATATATAATATATTTATAAAATAAATTTATTTAATACATATATTTTTATATATGTATTCAACACATATGTTTATATTTGCATTAAATACATATATTTATATATGTATTAAATATTTATATGTAAACATAAATATATATAAAATAAATATATCTTTATATATAATAAATATATATTTTTTGTTATATATATGACATCACAAAAGAATAGCCATGAAATAAAATAACCTTATAAATTATATTTAGGTATTTATAAACTCAGGCCATAAACTCAGGCAATTAAGCTGTGGACATGTGCAGCAGTAATAAGCGTGTGAGCTTACACTGAAGGCTGAATATTGAAAATGAAAGCCCAATACATATTGTAATGCCACAGCTGATGTCAACTGTCCTCCTTGTTTTTTGATTCCATAGTTTATGATTCATGACACTTCAATACATTTTTATTTAGATTTTTAACAAATGAACAATGGTGAATTGCTGTACTGTGAAAAATCCTAGTGGAATGACTCATATTATCTTCTCTACTTCGCCAAAACTGTCTTCTAAATTGTGATTTTTCAATGCATATGTGGAAAAACATAAATAATGATTATAATAAATCCTGTAATCCCTTTCAGGAGATTTTCACCATATCTTAATAGTCTATCAATATATTTTAAATACTTAGTGTATCGAGCCATTGAGTACTTCGAAGATGGTCACTTTCACCAAATTTCTTTTATGTTTTTATTTTGTTTGAATTTTTATATGGATGTTCGGTTTAGATGCTCCCCTTTCCTGAATCTCGAAAATAAAAATAAGTGCATTGTGCGTTGGGTGAGATGGGAGCAGGGAACAATATGATGGAAACATTATACATACAGCCAGGTAATCTAAAGTGCAGTTTGGATGATGCTCCAAGTGAAAGTCTTTGAATTCCAGTTCAAATGCGCTGCCGTGGCTAGATTTCAACCACCAGTAGCATTCAGAGCTGTGGTAATAGGGCATCGGGTAGTTGGGAGATATGAACGTGCCGCTTGAAGTGGTGAGATTACCCCCGCAACCTACAGGAGAAAGAAGTGGAATGACACACACCCCTTTCCTTCTGGGGAAATTGAATCTTTTTGTCTGCATTAAACTGGTGCCATTCTACTATCCTTTAAATCAAATTGCACAGCAAAATGGCATCATGAAAGAGTAGTTATAGCCTAAAAATCCAATTTTTATTTTTTTCTATTTTTTTTTTTTTTTTTGAGATGGAGTCTCACTGGGTCACTCAGGCTGGAATGCAACGGCATGATCTTGACTCACTGCAATTTCCACCTCCTAGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCTAGTAGCTGAGATTATAGGCACCTGCCACCACGTCCAGCTAATTTTTGTATTTTTAGTAGAGACGGGGTTGGCCAGTAGAGACTATGTTTAGTAGAGACTATGTTGGCCAGGCTGGTTTCAAACTCCTGACCTCAGGTGATCCCCCTGCCTCGGCCTCCCAAAGTGTTTGTGAGTACAGGAGTGAGCCACAGCACCCAGCCCCAATTTCCATTAATGCAATTTCCTTATTCTAACCAGGATTCTTATTTATTGATAAAAAGAAACTAGAACTTTCTCCCTTTGTCTGTTAAAAAGAAATGGCTGCTGTTAATTTAAAATTATTTGCAATATTGAAGTTTAAATACAGCTGGGCAAACATGGACAAGTGAGGGACAGAGCATGACAATCCCAGAATCAAGAAACCAATCAGATTGGCTTCTCCAGTAAAAGACAGCTCTTTGCTATTTACCTGTTGATGACCCATCCCAGTAAGCTGAGAATCCAGACCTTGTGTCTATTTGGTCACTCTTAAATTTTAACCATAGTTTGTTACTATGAGAGATGATTGTTGGGGGTAGATTTGAGCCATAGAATATTCCCAGCAATGGTGATTTTTCATAGCCTTCATCTCTGGCAGAATACAGAAATTAAAATTTATTGGGTTACTGACAATATTACTGTATAAACATTTAACATAATTTGAACTTTGGGATTGCAAACATTAGCAGTTTATTGGATGAAGTAATTTCTCTCAAACACTACACTTACTCTAAAAAACACGATTTTCACTTTTAAATTTTTAAAAATCATATTTGAATGACTTAACAAAGAATAACCATCATTCATAGCTGGTATGGTGTTTTATATAACCAATCACAAACTGAGAGAATATGTTTAATCTTCACCCTTTCGAATAAAGCCTCTGGCAAATGTGTCAGAGAAAACACGATAAAGAAACTATACTATTAACTATATAAACATACTGCTGTATTTTACAGAGAATCTTTCAACGTTTTCCTTCTGATTTGGAAATTTTTGAAATGTAATATATCATATTTGATATACTTAGCAAAATTCTGGAAATAGCATTTTCCTAAAAACTTCTGGGGCCTTAATTCTAGTTTATAATCTGTAGCTTTTTGAAACAAACAACAAAAAAGGGATTTATTCAACATCAAAGTCCAGTGAGTAACTGCTGTAAATTAAGAAAATTATGTCATTTTAGCACGATAGGGTCCAATTATGATTTATTATTTTAATACCTTACTTTATATTATAGAATAACATTTATAATACATAAGATTCCAGATTTAAAATCCCAAATAAAACATTTGATATAGATGCCCACCAGAATGATTAGCCTAATTTAACTCAAAGTAGTGGCATGGAGAGATAGTAACATATAAGCTAACTTACTTTTACTGCAAATATAACTTTTTAAACACATTCTTTCAAAATGATGATAATGAAAGAATAATGCCTTGTACTGAAATTCACAAGCCTAGACTTTTATTACCTGAACATGAAAACTTTGTGAAAACTTTAAGATTGCTATCCTGCCATCATTTTATAATATAATTAGATTAAATGAACAGCAAACAGCCTAAAATTTACATCGATTTTACATAATTAAAGTAGGTATTCAACAGTAGCAAGTTACATCATTTCAGAGTAGTAGCACATCTGTTTCTTTGCCCACATAAAATCTGGAGTTTATTTTCAAGTATTTCCAATAAAATAATCACTTCAAAATAACCACAGAATCTTATGCAATTCCTGTATTTCTCCTAAGTCAGGCTCCAAATGACAAACTTTATTTCTTGCAAGAAAGTGCACAGCAGGGAGCTTTGCAGAGAATTTCCATATTTTTTTCCTTAATCTTCCTAGGAAAGATTATTAATGAGAATAAATAATGAAAAGATTATAATGAAATAAATAAAAGTGCTGACCTGATTTCCAGAAAATCTGTATAATAGTTTCCAATGGCTTCCTCCAAGGAGAAGTTTGTGAAGTGCACTGCAATCAGTTGGCCAGTTCTCACTGTGATCCGATAAATGCATTCCCAGTTGTTGGGATAATTATTGGGGAAGTTTGGAGAAGTGAATGTCCCCAAATCATCTGTGTAGTCTTGCAAACATGCTGTGAACAGAAACAGACCATAAGAGAGAAAATAGAAAATATTGATATGTTTATAATACATCCAGTAATATGTATTTCATTAATTTGTGCCTATACTTGATTTTCAATAAGCCATTCTGGAATGTGCAAATAAAGACTTCATTCTGAAACAAAGTTTTTGTAATCTTAAAGACAAAATAATTACCAACACTAAATCTAAGCTATGGAGAGGAAATTGTTATATATATCTTGAGTAAACAACCCTTTAAGTCTTGAAAGTGTTACGTTTTTCTAATCCTTGCAAATTACCATAAACATTAAAAATTAGGATCCACTGCAGGAGGGCCTAGAAATAATTCAGTCTTGCCTTTTCATAAGCTCCCTTTAAAGTGGTTTTCACCAAAGCATGCATTTATGAGAAATGACAAAGCAGGTACCTCCACCACGGGGTGAAGAATAAGGGCCCAGGCTCAAGGATCAGAGTGATCTCGAATGAAAACCCTCTCAAACACTGTCAAGCTCTGCAGCCTTGGGAGAGTTACTGTACTTCTCTA
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Task1_train_13674
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This variant impacts the gene VIM, VIM-AS1 (vimentin| VIM antisense RNA 1) on Chromosome 10. Is the change likely to result in a pathogenic outcome?
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Pathogenic; Cataract 30
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TTGGAAAACAGGACCTATGGCATTTCCCAGACAAATCACCGTGAACCCTGTACTGTGCATTGCTGTCCTAAAATTAACACATAAATCTATTGCCGCCAAAGATTCTGTCATTTGTGTTACATAATTGCCTTTCATTTGAACTCATTAATCAAATTGGGGTTTTTAAGCAACACCTAATTAATTCTTTAACTGGCTCATATTATACCTTTAATGACTTCCACCAGGGTAAAAACCACTGATCACTGAGTTCTATTTTGAAACTACGGACGTCGAGTTTCCTCTTTCACCCAGAATTTTCAGATCTTGTTTAAAAAGTTGGGTGTGGTTTCATGGGGGGAGGGGGAAGAGCGAGAGGAGACCAGAGGGACGGGGGCGGGGACTCTGCAAGAAAAACCTTCCCGGTGCAATCGTGATCTGGGAGGCCCACGTATGGCGCCTCTCCAAAGGCTGCAGAAGTTTCTTGCTAACAAAAAGTCCGCACATTCGAGCAAAGACAGGCTTTAGCGAGTTATTAAAAACTTAGGGGCGCTCTTGTCCCCCACAGGGCCCGACCGCACACAGCAAGGCGATGGCCCAGCTGTAAGTTGGTAGCACTGAGAACTAGCAGCGCGCGCGGAGCCCGCTGAGACTTGAATCAATCTGGTCTAACGGTTTCCCCTAAACCGCTAGGAGCCCTCAATCGGCGGGACAGCAGGGCGCGGTGAGTCACCGCCGGTGACTAAGCGACCCCACCCCTCTCCCTCGGGCTTTCCTCTGCCACCGCCGTCTCGCAACTCCCGCCGTCCGAAGCTGGACTGAGCCCGTTAGGTCCCTCGACAGAACCTCCCCTCCCCCCAACATCTCTCCGCCAAGGCAAGTCGATGGACAGAGGCGCGGGCCGGAGCAGCCCCCCTTTCCAAGCGGGCGGCGCGCGAGGCTGCGGCGAGGCCTGAGCCCTGCGTTCCTGCGCTGTGCGCGCCCCCACCCCGCGTTCCAATCTCAGGCGCTCTTTGTTTCTTTCTCCGCGACTTCAGATCTGAGGGATTCCTTACTCTTTCCTCTTCCCGCTCCTTTGCCCGCGGGTCTCCCCGCCTGACCGCAGCCCCGAGACCGCCGCGCACCTCCTCCCACGCCCCTTTGGCGTGGTGCCACCGGACCCCTCTGGTTCAGTCCCAGGCGGACCCCCCCCTCACCGCGCGACCCCGCCTTTTTCAGCACCCCAGGGTGAGCCCAGCTCAGACTATCATCCGGAAAGCCCCCAAAAGTCCCAGCCCAGCGCTGAAGTAACGGGACCATGCCCAGTCCCAGGCCCCGGAGCAGGAAGGCTCGAGGGCGCCCCCACCCCACCCGCCCACCCTCCCCGCTTCTCGCTAGGTCCCTATTGGCTGGCGCGCTCCGCGGCTGGGATGGCAGTGGGAGGGGACCCTCTTTCCTAACGGGGTTATAAAAACAGCGCCCTCGGCGGGGTCCAGTCCTCTGCCACTCTCGCTCCGAGGTCCCCGCGCCAGAGACGCAGCCGCGCTCCCACCACCCACACCCACCGCGCCCTCGTTCGCCTCTTCTCCGGGAGCCAGTCCGCGCCACCGCCGCCGCCCAGGCCATCGCCACCCTCCGCAGCCATGTCCACCAGGTCCGTGTCCTCGTCCTCCTACCGCAGGATGTTCGGCGGCCCGGGCACCGCGAGCCGGCCGAGCTCCAGCCGGAGCTACGTGACTACGTCCACCCGCACCTACAGCCTGGGCAGCGCGCTGCGCCCCAGCACCAGCCGCAGCCTCTACGCCTCGTCCCCGGGCGGCGTGTATGCCACGCGCTCCTCTGCCGTGCGCCTGCGGAGCAGCGTGCCCGGGGTGCGGCTCCTGCAGGACTCGGTGGACTTCTCGCTGGCCGACGCCATCAACACCGAGTTCAAGAACACCCGCACCAACGAGAAGGTGGAGCTGCAGGAGCTGAATGACCGCTTCGCCAACTACATCGACAAGGTGCGCTTCCTGGAGCAGCAGAATAAGATCCTGCTGGCCGAGCTCGAGCAGCTCAAGGGCCAAGGCAAGTCGCGCCTGGGGGACCTCTACGAGGAGGAGATGCGGGAGCTGCGCCGGCAGGTGGACCAGCTAACCAACGACAAAGCCCGCGTCGAGGTGGAGCGCGACAACCTGGCCGAGGACATCATGCGCCTCCGGGAGAAGTAAGGCTGCGCCCATGCAAGTAGCTGGGCCTCGGGAGGGGGCTGGAGGGAGAGGGGAACGCCCCCCCGGCCCCCGCGAGAGCTGCCACGCCCTTGGGGATGTGGCCGGGGGGAGGCCTGCCAGGGAGACAGCGGAGAGCGGGGCTGTGGCTGTGGTGGCGCAGCCCCGCCCAGAACCCAGACCTTGCAGTTCGCATTTCCTCCTCTGTCCCCACACATTGCCCAAGGACGCTCCGTTTCAAGTTACAGATTTCTTAAAACTACCACTTTGTGTGCAGTTGAAGGCCCTTGGGCACAATGAGAGCCAGTCCTCCAAACTTTCAGAAAGTTTCCTGCCCCTTCTGGCAGGCTGCCAATCACCGGGCGGGAGAAGGAAGGAGGGGAAGGCGGTGGAGGGAGCGAGACAAAGGGATGGTCCCTCGGGGGCGGGGATGGCGGGGCTGTCCTGTAGGTCTGTGCGGCCACCGTGATTGCCCCTCTGCGCGGTGCCCGAAGTCCCGCTGAAACCTGCCGAGGGCAGCAGGTCTGAAAGCTGCAGGCGCTAGTTGCGCGGAGGTGGCGCAGCTGCTCTGGAGGCGCAGAGCGAATACGTGGTGTTTGGGTGTGGCCGCCCCGCCCCTGGCGGTTTCCTCGTTCCCCTTTGGTTAATGCGCAACTGTTTCAGATTGCAGGAGGAGATGCTTCAGAGAGAGGAAGCCGAAAACACCCTGCAATCTTTCAGACAGGTTTGTAGACTCTCTTCCCACTCGCAGCCGCCTGACCCCACCCAACACAACCCACGAGCAATTCTAAAAGTTGCTTAACTCACGTCTAAAAAGTGCAAAACTTCAGGGCTGCGCGTAAAGCCCTCTAGTGGCGGGAAGACCACAGGTTGGAGCTTCTCATGATTAGAAAAATATTAATAAAACCCCTTGAGCGATTTTTTTTTTTTTTTTGAGACGGAGTCTTACTCTGTCGCCCAGGCTGGAGTGCAGTGGCGAGATCTTGGCTCACTGCATCCTCCGCCTCCCGGGTTCAAGCGATCCTTGAATGATTTCTAAGCAGTTCCTTGGGACATAAAGAAAAATCTTTTAACTTTTTACTTTGTTTCCCAAATGTTGCACAGTTTTGCAACACATTGACCTTCTGGTTTCGAACGGTTACAATTTTAGATTGTGGTTTGCCAAAGTCAAGTTGCTTAATTTTTACAAGGCCACAAAAAGCGCAATTATGCCCTGCAGTTTAAAATGGAAAACGTGTTGGAAGATAAGAAAACTTAGTTTCCAACTGGAATGGAGCCAGCAAGTTTCTTTTCTTCTTTGCAAATTCTATTGTGTCATTAAAGTTCGATGGAAGTATCACTATGCACAACTATTTTGTGATCTAATAAGGGTGAAAAGGAGCCATCTGTCCCCTTGGCTAAGGGGTATTAATGGTTTCTATGGGCTTCACTATGGAATGTAGATACAGACATTCTGGCAAATGTGGTGGCTCTGGACAGAAATAATAGGAGTCTTTGTATTCCCAGGGAAGCTTTGCAACAGGCTACATTCTTACTGAATATGTAATGATGTAAGCACGGTTCTAATTGGACACAAGTATTTGCTAACATCCGTTATCTAATATCTGGCCCAGACTTGAGAAGTAGGTAATGTAAAAAGTTTTTAAAGCTACAAGCATACCTCACATTTTAAAAGTCCTTTCTTGATTGGGTTCTTGTGTTCTTTAGCACTCTTGCCATAAAAAATAATAACAGTAATAAACCCAAGGCTGAAAAACTGAATTTTAACTAAAGGGTTTTTGTGCGTGTTTTTTTTTTTTTTCACCAAAATTAGATGGACTTACAGAATTTTTAACTTAAAATTGGAATCCAAAAGCCAGAAGATCCCCATTATAGTTTATAGTTGTATTCCCTGGAATATTTACTGGGATTAACTGCAAAGCACTCTCAGATGA
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TTGGAAAACAGGACCTATGGCATTTCCCAGACAAATCACCGTGAACCCTGTACTGTGCATTGCTGTCCTAAAATTAACACATAAATCTATTGCCGCCAAAGATTCTGTCATTTGTGTTACATAATTGCCTTTCATTTGAACTCATTAATCAAATTGGGGTTTTTAAGCAACACCTAATTAATTCTTTAACTGGCTCATATTATACCTTTAATGACTTCCACCAGGGTAAAAACCACTGATCACTGAGTTCTATTTTGAAACTACGGACGTCGAGTTTCCTCTTTCACCCAGAATTTTCAGATCTTGTTTAAAAAGTTGGGTGTGGTTTCATGGGGGGAGGGGGAAGAGCGAGAGGAGACCAGAGGGACGGGGGCGGGGACTCTGCAAGAAAAACCTTCCCGGTGCAATCGTGATCTGGGAGGCCCACGTATGGCGCCTCTCCAAAGGCTGCAGAAGTTTCTTGCTAACAAAAAGTCCGCACATTCGAGCAAAGACAGGCTTTAGCGAGTTATTAAAAACTTAGGGGCGCTCTTGTCCCCCACAGGGCCCGACCGCACACAGCAAGGCGATGGCCCAGCTGTAAGTTGGTAGCACTGAGAACTAGCAGCGCGCGCGGAGCCCGCTGAGACTTGAATCAATCTGGTCTAACGGTTTCCCCTAAACCGCTAGGAGCCCTCAATCGGCGGGACAGCAGGGCGCGGTGAGTCACCGCCGGTGACTAAGCGACCCCACCCCTCTCCCTCGGGCTTTCCTCTGCCACCGCCGTCTCGCAACTCCCGCCGTCCGAAGCTGGACTGAGCCCGTTAGGTCCCTCGACAGAACCTCCCCTCCCCCCAACATCTCTCCGCCAAGGCAAGTCGATGGACAGAGGCGCGGGCCGGAGCAGCCCCCCTTTCCAAGCGGGCGGCGCGCGAGGCTGCGGCGAGGCCTGAGCCCTGCGTTCCTGCGCTGTGCGCGCCCCCACCCCGCGTTCCAATCTCAGGCGCTCTTTGTTTCTTTCTCCGCGACTTCAGATCTGAGGGATTCCTTACTCTTTCCTCTTCCCGCTCCTTTGCCCGCGGGTCTCCCCGCCTGACCGCAGCCCCGAGACCGCCGCGCACCTCCTCCCACGCCCCTTTGGCGTGGTGCCACCGGACCCCTCTGGTTCAGTCCCAGGCGGACCCCCCCCTCACCGCGCGACCCCGCCTTTTTCAGCACCCCAGGGTGAGCCCAGCTCAGACTATCATCCGGAAAGCCCCCAAAAGTCCCAGCCCAGCGCTGAAGTAACGGGACCATGCCCAGTCCCAGGCCCCGGAGCAGGAAGGCTCGAGGGCGCCCCCACCCCACCCGCCCACCCTCCCCGCTTCTCGCTAGGTCCCTATTGGCTGGCGCGCTCCGCGGCTGGGATGGCAGTGGGAGGGGACCCTCTTTCCTAACGGGGTTATAAAAACAGCGCCCTCGGCGGGGTCCAGTCCTCTGCCACTCTCGCTCCGAGGTCCCCGCGCCAGAGACGCAGCCGCGCTCCCACCACCCACACCCACCGCGCCCTCGTTCGCCTCTTCTCCGGGAGCCAGTCCGCGCCACCGCCGCCGCCCAGGCCATCGCCACCCTCCGCAGCCATGTCCACCAGGTCCGTGTCCTCGTCCTCCTACCGCAGGATGTTCGGCGGCCCGGGCACCGCGAGCCGGCCGAGCTCCAGCCGGAGCTACGTGACTACGTCCACCCGCACCTACAGCCTGGGCAGCGCGCTGCGCCCCAGCACCAGCCGCAGCCTCTACGCCTCGTCCCCGGGCGGCGTGTATGCCACGCGCTCCTCTGCCGTGCGCCTGCGGAGCAGCGTGCCCGGGGTGCGGCTCCTGCAGGACTCGGTGGACTTCTCGCTGGCCGACGCCATCAACACCGAGTTCAAGAACACCCGCACCAACGAGAAGGTGGAGCTGCAGGAGCTGAATGACCGCTTCGCCAACTACATCGACAAGGTGCGCTTCCTGGAGCAGCAGAATAAGATCCTGCTGGCCGAGCTCGAGCAGCTCAAGGGCCAAGGCAAGTCGCGCCTGGGGGACCTCTACAAGGAGGAGATGCGGGAGCTGCGCCGGCAGGTGGACCAGCTAACCAACGACAAAGCCCGCGTCGAGGTGGAGCGCGACAACCTGGCCGAGGACATCATGCGCCTCCGGGAGAAGTAAGGCTGCGCCCATGCAAGTAGCTGGGCCTCGGGAGGGGGCTGGAGGGAGAGGGGAACGCCCCCCCGGCCCCCGCGAGAGCTGCCACGCCCTTGGGGATGTGGCCGGGGGGAGGCCTGCCAGGGAGACAGCGGAGAGCGGGGCTGTGGCTGTGGTGGCGCAGCCCCGCCCAGAACCCAGACCTTGCAGTTCGCATTTCCTCCTCTGTCCCCACACATTGCCCAAGGACGCTCCGTTTCAAGTTACAGATTTCTTAAAACTACCACTTTGTGTGCAGTTGAAGGCCCTTGGGCACAATGAGAGCCAGTCCTCCAAACTTTCAGAAAGTTTCCTGCCCCTTCTGGCAGGCTGCCAATCACCGGGCGGGAGAAGGAAGGAGGGGAAGGCGGTGGAGGGAGCGAGACAAAGGGATGGTCCCTCGGGGGCGGGGATGGCGGGGCTGTCCTGTAGGTCTGTGCGGCCACCGTGATTGCCCCTCTGCGCGGTGCCCGAAGTCCCGCTGAAACCTGCCGAGGGCAGCAGGTCTGAAAGCTGCAGGCGCTAGTTGCGCGGAGGTGGCGCAGCTGCTCTGGAGGCGCAGAGCGAATACGTGGTGTTTGGGTGTGGCCGCCCCGCCCCTGGCGGTTTCCTCGTTCCCCTTTGGTTAATGCGCAACTGTTTCAGATTGCAGGAGGAGATGCTTCAGAGAGAGGAAGCCGAAAACACCCTGCAATCTTTCAGACAGGTTTGTAGACTCTCTTCCCACTCGCAGCCGCCTGACCCCACCCAACACAACCCACGAGCAATTCTAAAAGTTGCTTAACTCACGTCTAAAAAGTGCAAAACTTCAGGGCTGCGCGTAAAGCCCTCTAGTGGCGGGAAGACCACAGGTTGGAGCTTCTCATGATTAGAAAAATATTAATAAAACCCCTTGAGCGATTTTTTTTTTTTTTTTGAGACGGAGTCTTACTCTGTCGCCCAGGCTGGAGTGCAGTGGCGAGATCTTGGCTCACTGCATCCTCCGCCTCCCGGGTTCAAGCGATCCTTGAATGATTTCTAAGCAGTTCCTTGGGACATAAAGAAAAATCTTTTAACTTTTTACTTTGTTTCCCAAATGTTGCACAGTTTTGCAACACATTGACCTTCTGGTTTCGAACGGTTACAATTTTAGATTGTGGTTTGCCAAAGTCAAGTTGCTTAATTTTTACAAGGCCACAAAAAGCGCAATTATGCCCTGCAGTTTAAAATGGAAAACGTGTTGGAAGATAAGAAAACTTAGTTTCCAACTGGAATGGAGCCAGCAAGTTTCTTTTCTTCTTTGCAAATTCTATTGTGTCATTAAAGTTCGATGGAAGTATCACTATGCACAACTATTTTGTGATCTAATAAGGGTGAAAAGGAGCCATCTGTCCCCTTGGCTAAGGGGTATTAATGGTTTCTATGGGCTTCACTATGGAATGTAGATACAGACATTCTGGCAAATGTGGTGGCTCTGGACAGAAATAATAGGAGTCTTTGTATTCCCAGGGAAGCTTTGCAACAGGCTACATTCTTACTGAATATGTAATGATGTAAGCACGGTTCTAATTGGACACAAGTATTTGCTAACATCCGTTATCTAATATCTGGCCCAGACTTGAGAAGTAGGTAATGTAAAAAGTTTTTAAAGCTACAAGCATACCTCACATTTTAAAAGTCCTTTCTTGATTGGGTTCTTGTGTTCTTTAGCACTCTTGCCATAAAAAATAATAACAGTAATAAACCCAAGGCTGAAAAACTGAATTTTAACTAAAGGGTTTTTGTGCGTGTTTTTTTTTTTTTTCACCAAAATTAGATGGACTTACAGAATTTTTAACTTAAAATTGGAATCCAAAAGCCAGAAGATCCCCATTATAGTTTATAGTTGTATTCCCTGGAATATTTACTGGGATTAACTGCAAAGCACTCTCAGATGA
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Task1_train_13675
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This sequence variant lies in CACNB2 (calcium voltage-gated channel auxiliary subunit beta 2) on Chromosome 10. Is it clinically significant, and what condition might it cause if any?
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Pathogenic; Brugada syndrome 4
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TAAATTTTTTTGCAGAGACGGGGTCTTCCTTTGTTGCCCAGGCTGGTTTCAAACTCCTGGGCTCAAATGATCCTCCCACCTCGGCTTCCCAAAGTGCTGGAATTATAGGCGTGAGCTACCATGCCCAGCCTGTTTCCCGTTTTTTACTACAGCCCCTCGGTGTAGCTAGGGACATTTCATTCATGCACCTCCCTGTGTACTCATGTGAGGGTATCCCTGGGTATGTACTGAGGGGTGGGATGCCAAGCCTGAGTACTTGTGCATCAACAGTTTCATTATATCCTGCTAAATATCTAATGTGACTGTACCAGTTTATACTCCCACCAACAGGCTGGGCACAGTGGCTCATGCATGTAATCCCAGCACTTTGGGAGGCCAAGGCAGGCAGATCGCTTGAGGTCAGGAGTTCGAGACTAGCCTGGCCAATATGCTGAAACCCCGTAACTACTAAAAATACAAAAATTAGCCAGCTGTGATGGCACTGGCCTATAATCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATGGCTTGAACCTGAGAGGCAGAGGTTGCAGTGAGCCGAGATCGCGCCACTGCACTACAGCCCGGGCAACACAGCAAGACTCCATCTCTAAATAAATAACTAAGATATTCTCCCACCAACAGTATGTGAAAGTCTAGTTGCTCTGCATCACAGGCTTACAAACCTTTTCTGTAAAGGGCCACGTAGGACATATTTAAGGCTTTGTGAGTTACATGGTCTCTGTTGCAATGACTGCTCTTGTAAAGAGCACAAAAGCAGCCATGGAGCATACGTAAATGAACAAGCCCGTATGTTCCAATAAACATTTATTTAAGAACATTGATTTGAATTTCAGGTAATTGTCATGTGCCACAAAATACCATTCTGTTTTTTATTTTTTCCCCAGTAATTTAAAAATGTAAAACACATTCTTAGTTTGTAGGTTATACAAAACAGGTGGCTGACTGAGCTTGACTGTGGGCCATAGCTTGCCATCCCCTTCTTGACATTTTCACCAAGATCTGAGATTTTCAGATTTTTTAAAAATATTTCCACCATGATGGATGCAAAATGGTAAACTGTGATTTCAGTTTGTATTTCCTGATTAGAAAGGAAGTCCTGTGTATTGACCACTAGAATTTTATCTCCTATGATTTATCTATTCACGTCTTGTTTTCCATGTTCTTTTAGTTGTGGGTCTTTTGGTTGTGAGCCTTTTGATTTATAGGAGTTCTATTTCCTGGATAGTAATACCTATATATATACATATATGTGTGTGTTGCAAGCATGCTCTCAGAATATTGTGTTTATTATTTCAATGTTTAATGCTGTCTTTTAATATAAAGAAGTTTTTAATTTACAAAAGGTAAATGTCTCCAAGTGATACTCATTTGACTGTGAAAAAAATTAGATTTTCCATACACACTGAGAACTTGAAAGGCAACGAAAAAAGAAAGATATCACTTTCTTGTGTGCAAAAGAGAAAATATTTCTTCAGTGGGTGGGAGTAGAAAAATATTTTTACTTTTATTGCAGACTTTCAAGACAGTAGTTTCTTTGAATGCTAACAGCTTATCCAGTTATGCAACCTGTTGTTCTGTTCTGAAGAAAGGATTCTCGAGCAGGGCTGGAGTCCTGGCTGCCTGGAGGGACCTGTCGCATCTGATACTAATGAAGTGTTACTGTACTTTGACAAGTTTGCAGGCGTCTGTCTTCCAAGCCAGCTGACGTAATTCAGAGGAGAATAAGACCCTCCCACTTGCGTTTGTTAATTGACTTTGATGAGCTCCTCTGCTCTGCCTAAGTGGTTCTGGAACAGAGAGCTGTTGTGATCCGACGAACTTTAGAAAGTCACACTAACTAAGACTACACACCCCAAGCCAGCAAGAAAAAGGAAAGCAGTTGCTATGCTGTTCAGCAAAGCAAGACTTGGCTGCCTTTTAGCTAGTCCTGAATTCTTGCTCCTGTGAAGAAAATTCCTGCTGGAGTGCTGGGCGCACTTGGAATTGGTCTAGCATGCTTGACAGACGCCTTATAGCTCCTCAAACTAAATACATTATTCCTGGGGTAAGCATACGGGAGAGAAGCCGGCCAGATGCACGGTGCGGTTTAAAGAAAACAGGAATGCATAGAACTGTTGCCGAGCTTGAGCTAAAATCATACTAGTTACTTAACTTTTTAGACTTTCTTATCTTGCCAGAAATGTTGCCATTCACAGTGTTATTACTTTAATGCTGTGGTGATTTAAGCAAGTGAAACTGTAACTCTGGTTTTAAACTGTATGTTACTGAGCTTCATTTAGTAGCTTAGGGAGAGAGTCCCGGTGCAGACAAATTTAGTGGAAAATGAAAATGCTTTTTCCAGCTATAGACCAGCACTTGTCTTGAGTATCACTCTGACAGCCTAGCCACTGACTTCTTGTGTGTCTGAGACCTATCTGTGTAAATCAGGATGGTCTGACTTGCTGTGTTGCTGCAAATTAAGATTCTTTTACTATTCATCAACTTTAGAAATTTTGAATTTAATAAAATACAAACATGACAGTCTAAAGTTTAAAATACTTAAACATAAAGCTTTGCCACACGAGGACTGACTGTTTGGGTCTTCGGATTTGGTTTAGAACTTTTAAAGAAAAGACTTTATTATTATTTATTGGTGCCTTTTTAGGAAAGGATGAAAACATGCACAAAAAAAACCCTGAACCTAAAACTAAACCAGAGCCCGTAAAAATAAAAGTCATAAAGTTACAAATATCTGTGCTAATAGGACATGAAAATACCATTTTAAAATTAATAGTTTGTCTAAAAATTATTTTAAGTACTTCTTTTGTTTCTAATTGTTCCAACCTATACTAAATTTAGTATAATAGAGAAAAAAATGCTTGCTAGGAAATATCTTTGTGGTCATTTCTTCTATGTTGTATCATATAAAACTGGAAACTGAGATACTTTTTATGTGATTTTGATGATTCTTTTATTAGATTTTACTTTAAGTTTTCTAAAGATACAGAATTTTACTTGCTGAGTTGGCCCTCATTAAGTATTGTACGTGACAATTCTATTTCTTTAGGTTCTGACATGGCTGGCAATGTATACACTAATTATCAACGGTTTCTGGGCATTAGATATGTCACGCCCACCTATCAAATGCTACTCATGTCCAATTTAGAAATTATTCTGTACCTGTTTGAGTACATCTGGAATCATTTCCTGTAAACTTGCTTGCTTTTTAAGAATATTATCAAACATGAAATAACTGCTATATTTTTTCCTGCAGCGGAATTCTGTGAATTACGAAAACATGTATAACCTAAAATGCAAATTGCCAAATACATTCCATTGGCCATTTTGAATATTTTCAGCAACAAAACTGGTCACAATTATGTCACAGTTATTTAATAAGAATGACAATCTATATGATATTAAATAGTCACGAGGCCAGGTATGGTGGCTCACACCTGTAATCCCAAAAGTTTGGGAGGCCAAGGTGGGAGGATCGCTTGAGGCCAGAAGCTAGAGACCAGCCTGGGCAGCATAGCAAGATCTGTGTCTACAGAAATAATAGTTATCACATGAATAATTTATCCTACAATTAATTTTAGTCCTATCTTTAAGTATCATGGGGAATCTGCACAGGGATGTTTAGTCTTTTAAATTACTTCTTTCCTAAAAATAGACTTTTTGTTTCCTATGGCCTGGCTACCTCTCATTTTAACTAATAAGTATGCTTGAATAGGGCTTATAAACACATGGATTTTTGGATTTTTGAATGGTTAAAGTTTAAAACAACTCTTTTTAAAGTCTTTATAACCATTCAACACTTTAAATTCAGTCTTTCTCAAAGTTCTCCAATAATGACAGAAATTCTTTCAAGTTTGGACAAGAATATAAATGGAGATAATTTTTTAAATTATACATATGTATATTTATATATGTATATTTATATGTGCCTGTATATGTATTATGGGATAGTTGTTTAGAATGCTGAATAAACTGTGTGGTCTTTATTTTTGTTCTAATCGCAAGTATGATTTCAGTTTTTATATCAGTTTCAGTTTATTTCAGTACCTTCTAAAGTCATTCCAAACCTCAAATG
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TAAATTTTTTTGCAGAGACGGGGTCTTCCTTTGTTGCCCAGGCTGGTTTCAAACTCCTGGGCTCAAATGATCCTCCCACCTCGGCTTCCCAAAGTGCTGGAATTATAGGCGTGAGCTACCATGCCCAGCCTGTTTCCCGTTTTTTACTACAGCCCCTCGGTGTAGCTAGGGACATTTCATTCATGCACCTCCCTGTGTACTCATGTGAGGGTATCCCTGGGTATGTACTGAGGGGTGGGATGCCAAGCCTGAGTACTTGTGCATCAACAGTTTCATTATATCCTGCTAAATATCTAATGTGACTGTACCAGTTTATACTCCCACCAACAGGCTGGGCACAGTGGCTCATGCATGTAATCCCAGCACTTTGGGAGGCCAAGGCAGGCAGATCGCTTGAGGTCAGGAGTTCGAGACTAGCCTGGCCAATATGCTGAAACCCCGTAACTACTAAAAATACAAAAATTAGCCAGCTGTGATGGCACTGGCCTATAATCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATGGCTTGAACCTGAGAGGCAGAGGTTGCAGTGAGCCGAGATCGCGCCACTGCACTACAGCCCGGGCAACACAGCAAGACTCCATCTCTAAATAAATAACTAAGATATTCTCCCACCAACAGTATGTGAAAGTCTAGTTGCTCTGCATCACAGGCTTACAAACCTTTTCTGTAAAGGGCCACGTAGGACATATTTAAGGCTTTGTGAGTTACATGGTCTCTGTTGCAATGACTGCTCTTGTAAAGAGCACAAAAGCAGCCATGGAGCATACGTAAATGAACAAGCCCGTATGTTCCAATAAACATTTATTTAAGAACATTGATTTGAATTTCAGGTAATTGTCATGTGCCACAAAATACCATTCTGTTTTTTATTTTTTCCCCAGTAATTTAAAAATGTAAAACACATTCTTAGTTTGTAGGTTATACAAAACAGGTGGCTGACTGAGCTTGACTGTGGGCCATAGCTTGCCATCCCCTTCTTGACATTTTCACCAAGATCTGAGATTTTCAGATTTTTTAAAAATATTTCCACCATGATGGATGCAAAATGGTAAACTGTGATTTCAGTTTGTATTTCCTGATTAGAAAGGAAGTCCTGTGTATTGACCACTAGAATTTTATCTCCTATGATTTATCTATTCACGTCTTGTTTTCCATGTTCTTTTAGTTGTGGGTCTTTTGGTTGTGAGCCTTTTGATTTATAGGAGTTCTATTTCCTGGATAGTAATACCTATATATATACATATATGTGTGTGTTGCAAGCATGCTCTCAGAATATTGTGTTTATTATTTCAATGTTTAATGCTGTCTTTTAATATAAAGAAGTTTTTAATTTACAAAAGGTAAATGTCTCCAAGTGATACTCATTTGACTGTGAAAAAAATTAGATTTTCCATACACACTGAGAACTTGAAAGGCAACGAAAAAAGAAAGATATCACTTTCTTGTGTGCAAAAGAGAAAATATTTCTTCAGTGGGTGGGAGTAGAAAAATATTTTTACTTTTATTGCAGACTTTCAAGACAGTAGTTTCTTTGAATGCTAACAGCTTATCCAGTTATGCAACCTGTTGTTCTGTTCTGAAGAAAGGATTCTCGAGCAGGGCTGGAGTCCTGGCTGCCTGGAGGGACCTGTCGCATCTGATACTAATGAAGTGTTACTGTACTTTGACAAGTTTGCAGGCGTCTGTCTTCCAAGCCAGCTGACGTAATTCAGAGGAGAATAAGACCCTCCCACTTGCGTTTGTTAATTGACTTTGATGAGCTCCTCTGCTCTGCCTAAGTGGTTCTGGAACAGAGAGCTGTTGTGATCCGACGAACTTTAGAAAGTCACACTAACTAAGACTACACACCCCAAGCCAGCAAGAAAAAGGAAAGCAGTTGCTATGCTGTTCAGCAAAGCAAGACTTGGCTGCCTTTTAGCTAGTCCTGAATTCTTGCTCCTGTGAAGAAAATTCCTGCTGGAGTGCTGGGCGCACTTGGAATTGGTCTAGCATGCTTGACAGACGCCTTATAGCTCCTCAAATTAAATACATTATTCCTGGGGTAAGCATACGGGAGAGAAGCCGGCCAGATGCACGGTGCGGTTTAAAGAAAACAGGAATGCATAGAACTGTTGCCGAGCTTGAGCTAAAATCATACTAGTTACTTAACTTTTTAGACTTTCTTATCTTGCCAGAAATGTTGCCATTCACAGTGTTATTACTTTAATGCTGTGGTGATTTAAGCAAGTGAAACTGTAACTCTGGTTTTAAACTGTATGTTACTGAGCTTCATTTAGTAGCTTAGGGAGAGAGTCCCGGTGCAGACAAATTTAGTGGAAAATGAAAATGCTTTTTCCAGCTATAGACCAGCACTTGTCTTGAGTATCACTCTGACAGCCTAGCCACTGACTTCTTGTGTGTCTGAGACCTATCTGTGTAAATCAGGATGGTCTGACTTGCTGTGTTGCTGCAAATTAAGATTCTTTTACTATTCATCAACTTTAGAAATTTTGAATTTAATAAAATACAAACATGACAGTCTAAAGTTTAAAATACTTAAACATAAAGCTTTGCCACACGAGGACTGACTGTTTGGGTCTTCGGATTTGGTTTAGAACTTTTAAAGAAAAGACTTTATTATTATTTATTGGTGCCTTTTTAGGAAAGGATGAAAACATGCACAAAAAAAACCCTGAACCTAAAACTAAACCAGAGCCCGTAAAAATAAAAGTCATAAAGTTACAAATATCTGTGCTAATAGGACATGAAAATACCATTTTAAAATTAATAGTTTGTCTAAAAATTATTTTAAGTACTTCTTTTGTTTCTAATTGTTCCAACCTATACTAAATTTAGTATAATAGAGAAAAAAATGCTTGCTAGGAAATATCTTTGTGGTCATTTCTTCTATGTTGTATCATATAAAACTGGAAACTGAGATACTTTTTATGTGATTTTGATGATTCTTTTATTAGATTTTACTTTAAGTTTTCTAAAGATACAGAATTTTACTTGCTGAGTTGGCCCTCATTAAGTATTGTACGTGACAATTCTATTTCTTTAGGTTCTGACATGGCTGGCAATGTATACACTAATTATCAACGGTTTCTGGGCATTAGATATGTCACGCCCACCTATCAAATGCTACTCATGTCCAATTTAGAAATTATTCTGTACCTGTTTGAGTACATCTGGAATCATTTCCTGTAAACTTGCTTGCTTTTTAAGAATATTATCAAACATGAAATAACTGCTATATTTTTTCCTGCAGCGGAATTCTGTGAATTACGAAAACATGTATAACCTAAAATGCAAATTGCCAAATACATTCCATTGGCCATTTTGAATATTTTCAGCAACAAAACTGGTCACAATTATGTCACAGTTATTTAATAAGAATGACAATCTATATGATATTAAATAGTCACGAGGCCAGGTATGGTGGCTCACACCTGTAATCCCAAAAGTTTGGGAGGCCAAGGTGGGAGGATCGCTTGAGGCCAGAAGCTAGAGACCAGCCTGGGCAGCATAGCAAGATCTGTGTCTACAGAAATAATAGTTATCACATGAATAATTTATCCTACAATTAATTTTAGTCCTATCTTTAAGTATCATGGGGAATCTGCACAGGGATGTTTAGTCTTTTAAATTACTTCTTTCCTAAAAATAGACTTTTTGTTTCCTATGGCCTGGCTACCTCTCATTTTAACTAATAAGTATGCTTGAATAGGGCTTATAAACACATGGATTTTTGGATTTTTGAATGGTTAAAGTTTAAAACAACTCTTTTTAAAGTCTTTATAACCATTCAACACTTTAAATTCAGTCTTTCTCAAAGTTCTCCAATAATGACAGAAATTCTTTCAAGTTTGGACAAGAATATAAATGGAGATAATTTTTTAAATTATACATATGTATATTTATATATGTATATTTATATGTGCCTGTATATGTATTATGGGATAGTTGTTTAGAATGCTGAATAAACTGTGTGGTCTTTATTTTTGTTCTAATCGCAAGTATGATTTCAGTTTTTATATCAGTTTCAGTTTATTTCAGTACCTTCTAAAGTCATTCCAAACCTCAAATG
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Task1_train_13676
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A genetic alteration is present in MYO3A (myosin IIIA) on Chromosome 10. Is this variant benign or disease-causing, and if the latter, which condition is involved?
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Pathogenic; Nonsyndromic genetic hearing loss
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ATGTCCATGAAATTGAATTGAAGTTATTGGTGTTTTATTTGGCTGAGAGGAGTGTAATTGGTTCAGAGATTTTGAAGAGCAGTTAAATAGTATATATCAAAAAACTTTCAGCCAGGCCCAGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCAAGACGGGCAGATCACGAGGTCAGCAGATCGAGACCATCCTGGCTAACACAGTGAAACCCCGTCTCTACTGAAAATACAAAAAAATAGCCAGGCGTGGTGGCGGGCACCTGTAGTCCCACCTACTTGGTAGGCTGAGGCAGGAGAATGGCGTGAACCCAGGAGGCGGAGCTTGCAGTGAGCGGAGATCGTGCCACTATACTCCAGCCTGGGTGACAGAGCAAGACTCCATCTAAAACAAAAAACAAAAAACAAACAAACAAAAAAGACCTTTCTTGATCCCAGGAGTTCGAGGCCAGCCTGGGCAACATGGCGAAACACTATCTCTACCAAATAATAATAATAATAATTAGCCAGGCAGGTTGTCATGCGCCTGTGGTCCCAGCTGCATGGGAGGCTGAAGTAGGAGGATCTCTTGAGCCCAGGAGTTTGAGGCTGCAGTGAGCCATAATTGTGCTGTAGCACACCAGCTTGGATGACAGAGCGAGACTTTGTCTCAAAAAAAAAAAAAAAAAAAAAACTTTTACATATTTACGTATTTTGAAAAATTGCTGAATTTAGGCAACCTATGCTAAGAAAATAGTACAAAATATAAACACAGATTTATGCTTAAAATATTTATCCTGGCATTTTTTAAAATTATTGATATATTATCATATTTGTCAAAATATTATGCAGCAAATTAAAGCATATTTACAGACAATATTGAACAAAATGGGAAATGCATAAGATGTTATATGAGATAAAATGTTTATGCAGACTAATGGTAGTAAATATGCCTAGAAGGAAAGAAATGCAGAATGTTAACTTAGAAGGTAAAATTTCTGCAATGAGCCTATCGTACTTCCACGATATGAAAAAATATAGGGTTTAACAATCTTAGCCATATAACCAAGAAACATCTTGTCACAAGTGCTAAAAGTAAATGTAAAATGTTCAAAATATTTTAAAAGGAGAACAACAGATTTGAAAAATTAGCCAATCTGTCATGTAATAGTTTTGGTTAAAGATGTTTATTATATTCAAAAATGAGTTTTGTTCACGGAATTAAAGTGTTACTAATTTTAAATTCCCCATGAAATGTAATCAACATTAAATGCCAAATAAATGTTTGTTCAAACATCCAGTTTTAACAAAATTTAGTAATTGAAGTATGAAACTAAAAAGTAGGATGATATGTACATGAATGTCAAGTATAAGTACATGAATGTCAAGATAAGTTTGTGCTCTTTCTGTTGTGTATTGCAGAAGGTACTTGAAATACATTTATTGAGGTATACCCCTGAAGTCTAAGTAACCTGTTCCAGTTAATTTCTACATTTTGAAAATATGTATATAATAATGGTATCCAAATTATGCCAAATCTATTCATTATGTTTTAAAATTATTTAGCATAATTTAGTGAAACTATATTTGACATCACATAAACAACCACTCGCTTATGCAGCTGTATTACTCTGCCAGCCAGTGTGATTTGGGTTATGTTATAATATGCAGTAACCTAAGTTTAACCAGCTGAGAAAAGTTGAGAAAAATGATCAAGAAGAGACATAGGACTCATGTTGGATAGTATCATATTTTTACATTACATAATCTCCACACATTTAATTCATGTCATTTGAAGAAGGCAGATTAAGACATTTTCATTTTTGGGGAGTGACCTCATTGCCATAATTTCTTCTAACAATGCATCTGTTTGTTTTTCAGGTGCTTCTTTGCTTTGCATTCGGGCAGATGAGCTACAAGAAGCTCTCACCTCCCACTGTGTGGTCACTAGAGGAGAAACAATTATACGACCCAATACTGTAGAAAAAGCTACCGATGTCAGGGATGCCATGGCTAAAACTTTATATGGACGTCTCTTTAGTTGGATAGTCAATTGCATTAACAGTTTGTTGAAGCATGACTCATCACCAAGGTAAAAATTTTTACAGAAACATTTTTTTCCCAAATGTCAGGTGATGTAAGTCTACTTTCTAATTGATTGTTTTGTATAGATCTCTTTCAAGATGTTTCTATAATTGATGTAATTAAATTATTAAAATGATAATTTAGTAGATAAGCTTCACTTCCTAATAGTTCCACCTCATAATGCCACTTAACTATAAAATTTTTAAGTTGCTGCAACATAAAACCTGTAGCAACATAAATAACACAATAGAAAGTGAATTCTTAAAATGTGATATCTTACTATGAACTAATAGGTTTTTTTAATTAGAAGTTGTACCATGAAGCATATACCATTTTATGCTTGTATAAAATGTCAGCTCAGCAGTCCTTTGTTTTTATTTTGAAGGTTTAAATTAAACTTTGAAGATAAAGGAAAACTTTATTTTCATATTTTAACTCTCACTGTAATGCCATTACAGCCTCACTGTAACTCCAATGAAATTTGGTTCAGAAATGCACTAGATAAATGTAGGTAATAGTAAATGGCAGGGCCATGATGTAAGCATTGTTATCTGACTGTAAGTCTAGATCCTTCCTTCTTAAAGATAATTACAGCCACGACTGACTGAGTGCTCTCTATAGGCAGGGCTTATACATGGACACAAGTCCTTCCATCTAAAGCTTTGTTCTGTGATAAATGGCATAATCTTTAGAATTTTGCATGTGGAAAAGCAAGATGGATGCCTACCATAAGATCACCTCATTCACACTTGCTTACTAAGCATAAAAGACCATTTATACACATTTCAAGTATGCAATTCATTATTATTTTTTTCACTAAAATACATACCACACCATTATACTATGTATAGTCAAACTGTCTAAGACCTTATCCATTATTTCTCCATGTTCTTAACTTTGTGTCTCTCAAAATTGCTTGTGTACCTCCTGGGTACTATCTATACCATTTTCCCATTACAATGTAATGGTCAAAATGGTTGTATGTTCTGGTACGGTCATCTATATTATGTCAAGCATTCATATGAAAATGGAAAATATTCAGGGATTTTTATTATCTGTATATTCCAGAAAATGTAGGCAAGATGGCAAGATATTTAGAGATTTGGCCTCATTTTGTTAATTATCATCTGCATGTTTGGCACTAAATGATACCTACCCAGAAGGGGGATCTACTATATCCACTGTAGCCTATGTACTAAATGTACATATACTAAATATACTAAATGGCAACTTTCCTTTCCATTCACTAATGAAAACCATCCAAATCTTAGATTTTAAAATTTTTTACAGAAAGTCTAAAAGCTAAAGGGAGACCAATTGAAATAATTTAGTTCAACTTTGTTAAGTTGTACACTAAGACTTTAAACGGTATATGTTGTATGCTGGGCTTTGCCACTATCTCGTTATGGGACACTGGGCAACTTACTGCATTTGTCTGGGTCTTTCCCTCCTCAACTGTTAAATAGGGGCATTGAATGACAAGTCAGTGGTCTTAGTTGTTGGGGTGTATCTTGGAGCCTTTTAAGAACGTCTTGAAAACTGCCTATTTCCTTCACTTAAAAATAAAAAATAGATATATTTCTATATGCCCACGAAAATATTGCACGCTTATGATTCCATTCCTCTTGAAAGCCATTAATAGATCTTACTTTAAGAATCTCTGAACTAGATTATTTGTAAGGTCCCTCCTGCTTCTAACACTTTTTTATGCAATGAGTTAAATATTTATCTCTGTGGGATCCTGTGGGGCAAAGAGATTGTAAAAGGATAATAATCTTGACTAAACCAGCATAAGTTTTAACTAGACATCTTGCCTCATACAATAATACAGAATTATTATTCAAAATAAGAACTTTCAGAAATACTCAAATAGCTTTCCTTTTGTCCATCCCAGCACATATTTAAAGTATTCTACAGCCTGGATTTTGAATTCAGTTGCTTCCTCCAAATGTAGAGCGGATCCTTCAGGTCACAGTGTGCAGTTGCTGACTGTCATTTCCAAATCACTTCCTTACATAATACTAAGTGTA
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ATGTCCATGAAATTGAATTGAAGTTATTGGTGTTTTATTTGGCTGAGAGGAGTGTAATTGGTTCAGAGATTTTGAAGAGCAGTTAAATAGTATATATCAAAAAACTTTCAGCCAGGCCCAGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCAAGACGGGCAGATCACGAGGTCAGCAGATCGAGACCATCCTGGCTAACACAGTGAAACCCCGTCTCTACTGAAAATACAAAAAAATAGCCAGGCGTGGTGGCGGGCACCTGTAGTCCCACCTACTTGGTAGGCTGAGGCAGGAGAATGGCGTGAACCCAGGAGGCGGAGCTTGCAGTGAGCGGAGATCGTGCCACTATACTCCAGCCTGGGTGACAGAGCAAGACTCCATCTAAAACAAAAAACAAAAAACAAACAAACAAAAAAGACCTTTCTTGATCCCAGGAGTTCGAGGCCAGCCTGGGCAACATGGCGAAACACTATCTCTACCAAATAATAATAATAATAATTAGCCAGGCAGGTTGTCATGCGCCTGTGGTCCCAGCTGCATGGGAGGCTGAAGTAGGAGGATCTCTTGAGCCCAGGAGTTTGAGGCTGCAGTGAGCCATAATTGTGCTGTAGCACACCAGCTTGGATGACAGAGCGAGACTTTGTCTCAAAAAAAAAAAAAAAAAAAAAACTTTTACATATTTACGTATTTTGAAAAATTGCTGAATTTAGGCAACCTATGCTAAGAAAATAGTACAAAATATAAACACAGATTTATGCTTAAAATATTTATCCTGGCATTTTTTAAAATTATTGATATATTATCATATTTGTCAAAATATTATGCAGCAAATTAAAGCATATTTACAGACAATATTGAACAAAATGGGAAATGCATAAGATGTTATATGAGATAAAATGTTTATGCAGACTAATGGTAGTAAATATGCCTAGAAGGAAAGAAATGCAGAATGTTAACTTAGAAGGTAAAATTTCTGCAATGAGCCTATCGTACTTCCACGATATGAAAAAATATAGGGTTTAACAATCTTAGCCATATAACCAAGAAACATCTTGTCACAAGTGCTAAAAGTAAATGTAAAATGTTCAAAATATTTTAAAAGGAGAACAACAGATTTGAAAAATTAGCCAATCTGTCATGTAATAGTTTTGGTTAAAGATGTTTATTATATTCAAAAATGAGTTTTGTTCACGGAATTAAAGTGTTACTAATTTTAAATTCCCCATGAAATGTAATCAACATTAAATGCCAAATAAATGTTTGTTCAAACATCCAGTTTTAACAAAATTTAGTAATTGAAGTATGAAACTAAAAAGTAGGATGATATGTACATGAATGTCAAGTATAAGTACATGAATGTCAAGATAAGTTTGTGCTCTTTCTGTTGTGTATTGCAGAAGGTACTTGAAATACATTTATTGAGGTATACCCCTGAAGTCTAAGTAACCTGTTCCAGTTAATTTCTACATTTTGAAAATATGTATATAATAATGGTATCCAAATTATGCCAAATCTATTCATTATGTTTTAAAATTATTTAGCATAATTTAGTGAAACTATATTTGACATCACATAAACAACCACTCGCTTATGCAGCTGTATTACTCTGCCAGCCAGTGTGATTTGGGTTATGTTATAATATGCAGTAACCTAAGTTTAACCAGCTGAGAAAAGTTGAGAAAAATGATCAAGAAGAGACATAGGACTCATGTTGGATAGTATCATATTTTTACATTACATAATCTCCACACATTTAATTCATGTCATTTGAAGAAGGCAGATTAAGACATTTTCATTTTTGGGGAGTGACCTCATTGCCATAATTTCTTCTAACAATGCATCTGTTTGTTTTTCAGGTGCTTCTTTGCTTTGCATTCGGGCAGATGAGCTACAAGAAGCTCTCACCTCCCACTGTGTGGTCACTAGAGGAGAAACAATTATACGACCCAATACTGTAGAAAAAGCTACCGATGTCAGGGATGCCATGGCTAAAACTTTATATGGACGTCTCTTTAGTTGGATAGTCAATTGCATTAACAGTTGGTTGAAGCATGACTCATCACCAAGGTAAAAATTTTTACAGAAACATTTTTTTCCCAAATGTCAGGTGATGTAAGTCTACTTTCTAATTGATTGTTTTGTATAGATCTCTTTCAAGATGTTTCTATAATTGATGTAATTAAATTATTAAAATGATAATTTAGTAGATAAGCTTCACTTCCTAATAGTTCCACCTCATAATGCCACTTAACTATAAAATTTTTAAGTTGCTGCAACATAAAACCTGTAGCAACATAAATAACACAATAGAAAGTGAATTCTTAAAATGTGATATCTTACTATGAACTAATAGGTTTTTTTAATTAGAAGTTGTACCATGAAGCATATACCATTTTATGCTTGTATAAAATGTCAGCTCAGCAGTCCTTTGTTTTTATTTTGAAGGTTTAAATTAAACTTTGAAGATAAAGGAAAACTTTATTTTCATATTTTAACTCTCACTGTAATGCCATTACAGCCTCACTGTAACTCCAATGAAATTTGGTTCAGAAATGCACTAGATAAATGTAGGTAATAGTAAATGGCAGGGCCATGATGTAAGCATTGTTATCTGACTGTAAGTCTAGATCCTTCCTTCTTAAAGATAATTACAGCCACGACTGACTGAGTGCTCTCTATAGGCAGGGCTTATACATGGACACAAGTCCTTCCATCTAAAGCTTTGTTCTGTGATAAATGGCATAATCTTTAGAATTTTGCATGTGGAAAAGCAAGATGGATGCCTACCATAAGATCACCTCATTCACACTTGCTTACTAAGCATAAAAGACCATTTATACACATTTCAAGTATGCAATTCATTATTATTTTTTTCACTAAAATACATACCACACCATTATACTATGTATAGTCAAACTGTCTAAGACCTTATCCATTATTTCTCCATGTTCTTAACTTTGTGTCTCTCAAAATTGCTTGTGTACCTCCTGGGTACTATCTATACCATTTTCCCATTACAATGTAATGGTCAAAATGGTTGTATGTTCTGGTACGGTCATCTATATTATGTCAAGCATTCATATGAAAATGGAAAATATTCAGGGATTTTTATTATCTGTATATTCCAGAAAATGTAGGCAAGATGGCAAGATATTTAGAGATTTGGCCTCATTTTGTTAATTATCATCTGCATGTTTGGCACTAAATGATACCTACCCAGAAGGGGGATCTACTATATCCACTGTAGCCTATGTACTAAATGTACATATACTAAATATACTAAATGGCAACTTTCCTTTCCATTCACTAATGAAAACCATCCAAATCTTAGATTTTAAAATTTTTTACAGAAAGTCTAAAAGCTAAAGGGAGACCAATTGAAATAATTTAGTTCAACTTTGTTAAGTTGTACACTAAGACTTTAAACGGTATATGTTGTATGCTGGGCTTTGCCACTATCTCGTTATGGGACACTGGGCAACTTACTGCATTTGTCTGGGTCTTTCCCTCCTCAACTGTTAAATAGGGGCATTGAATGACAAGTCAGTGGTCTTAGTTGTTGGGGTGTATCTTGGAGCCTTTTAAGAACGTCTTGAAAACTGCCTATTTCCTTCACTTAAAAATAAAAAATAGATATATTTCTATATGCCCACGAAAATATTGCACGCTTATGATTCCATTCCTCTTGAAAGCCATTAATAGATCTTACTTTAAGAATCTCTGAACTAGATTATTTGTAAGGTCCCTCCTGCTTCTAACACTTTTTTATGCAATGAGTTAAATATTTATCTCTGTGGGATCCTGTGGGGCAAAGAGATTGTAAAAGGATAATAATCTTGACTAAACCAGCATAAGTTTTAACTAGACATCTTGCCTCATACAATAATACAGAATTATTATTCAAAATAAGAACTTTCAGAAATACTCAAATAGCTTTCCTTTTGTCCATCCCAGCACATATTTAAAGTATTCTACAGCCTGGATTTTGAATTCAGTTGCTTCCTCCAAATGTAGAGCGGATCCTTCAGGTCACAGTGTGCAGTTGCTGACTGTCATTTCCAAATCACTTCCTTACATAATACTAAGTGTA
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Task1_train_13677
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Here is a variant affecting MYO3A (myosin IIIA) on Chromosome 10. Please identify whether it is a benign mutation or associated with a disorder.
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Pathogenic; nonsyndromic sensorineural hearing loss
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ATGTCCATGAAATTGAATTGAAGTTATTGGTGTTTTATTTGGCTGAGAGGAGTGTAATTGGTTCAGAGATTTTGAAGAGCAGTTAAATAGTATATATCAAAAAACTTTCAGCCAGGCCCAGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCAAGACGGGCAGATCACGAGGTCAGCAGATCGAGACCATCCTGGCTAACACAGTGAAACCCCGTCTCTACTGAAAATACAAAAAAATAGCCAGGCGTGGTGGCGGGCACCTGTAGTCCCACCTACTTGGTAGGCTGAGGCAGGAGAATGGCGTGAACCCAGGAGGCGGAGCTTGCAGTGAGCGGAGATCGTGCCACTATACTCCAGCCTGGGTGACAGAGCAAGACTCCATCTAAAACAAAAAACAAAAAACAAACAAACAAAAAAGACCTTTCTTGATCCCAGGAGTTCGAGGCCAGCCTGGGCAACATGGCGAAACACTATCTCTACCAAATAATAATAATAATAATTAGCCAGGCAGGTTGTCATGCGCCTGTGGTCCCAGCTGCATGGGAGGCTGAAGTAGGAGGATCTCTTGAGCCCAGGAGTTTGAGGCTGCAGTGAGCCATAATTGTGCTGTAGCACACCAGCTTGGATGACAGAGCGAGACTTTGTCTCAAAAAAAAAAAAAAAAAAAAAACTTTTACATATTTACGTATTTTGAAAAATTGCTGAATTTAGGCAACCTATGCTAAGAAAATAGTACAAAATATAAACACAGATTTATGCTTAAAATATTTATCCTGGCATTTTTTAAAATTATTGATATATTATCATATTTGTCAAAATATTATGCAGCAAATTAAAGCATATTTACAGACAATATTGAACAAAATGGGAAATGCATAAGATGTTATATGAGATAAAATGTTTATGCAGACTAATGGTAGTAAATATGCCTAGAAGGAAAGAAATGCAGAATGTTAACTTAGAAGGTAAAATTTCTGCAATGAGCCTATCGTACTTCCACGATATGAAAAAATATAGGGTTTAACAATCTTAGCCATATAACCAAGAAACATCTTGTCACAAGTGCTAAAAGTAAATGTAAAATGTTCAAAATATTTTAAAAGGAGAACAACAGATTTGAAAAATTAGCCAATCTGTCATGTAATAGTTTTGGTTAAAGATGTTTATTATATTCAAAAATGAGTTTTGTTCACGGAATTAAAGTGTTACTAATTTTAAATTCCCCATGAAATGTAATCAACATTAAATGCCAAATAAATGTTTGTTCAAACATCCAGTTTTAACAAAATTTAGTAATTGAAGTATGAAACTAAAAAGTAGGATGATATGTACATGAATGTCAAGTATAAGTACATGAATGTCAAGATAAGTTTGTGCTCTTTCTGTTGTGTATTGCAGAAGGTACTTGAAATACATTTATTGAGGTATACCCCTGAAGTCTAAGTAACCTGTTCCAGTTAATTTCTACATTTTGAAAATATGTATATAATAATGGTATCCAAATTATGCCAAATCTATTCATTATGTTTTAAAATTATTTAGCATAATTTAGTGAAACTATATTTGACATCACATAAACAACCACTCGCTTATGCAGCTGTATTACTCTGCCAGCCAGTGTGATTTGGGTTATGTTATAATATGCAGTAACCTAAGTTTAACCAGCTGAGAAAAGTTGAGAAAAATGATCAAGAAGAGACATAGGACTCATGTTGGATAGTATCATATTTTTACATTACATAATCTCCACACATTTAATTCATGTCATTTGAAGAAGGCAGATTAAGACATTTTCATTTTTGGGGAGTGACCTCATTGCCATAATTTCTTCTAACAATGCATCTGTTTGTTTTTCAGGTGCTTCTTTGCTTTGCATTCGGGCAGATGAGCTACAAGAAGCTCTCACCTCCCACTGTGTGGTCACTAGAGGAGAAACAATTATACGACCCAATACTGTAGAAAAAGCTACCGATGTCAGGGATGCCATGGCTAAAACTTTATATGGACGTCTCTTTAGTTGGATAGTCAATTGCATTAACAGTTTGTTGAAGCATGACTCATCACCAAGGTAAAAATTTTTACAGAAACATTTTTTTCCCAAATGTCAGGTGATGTAAGTCTACTTTCTAATTGATTGTTTTGTATAGATCTCTTTCAAGATGTTTCTATAATTGATGTAATTAAATTATTAAAATGATAATTTAGTAGATAAGCTTCACTTCCTAATAGTTCCACCTCATAATGCCACTTAACTATAAAATTTTTAAGTTGCTGCAACATAAAACCTGTAGCAACATAAATAACACAATAGAAAGTGAATTCTTAAAATGTGATATCTTACTATGAACTAATAGGTTTTTTTAATTAGAAGTTGTACCATGAAGCATATACCATTTTATGCTTGTATAAAATGTCAGCTCAGCAGTCCTTTGTTTTTATTTTGAAGGTTTAAATTAAACTTTGAAGATAAAGGAAAACTTTATTTTCATATTTTAACTCTCACTGTAATGCCATTACAGCCTCACTGTAACTCCAATGAAATTTGGTTCAGAAATGCACTAGATAAATGTAGGTAATAGTAAATGGCAGGGCCATGATGTAAGCATTGTTATCTGACTGTAAGTCTAGATCCTTCCTTCTTAAAGATAATTACAGCCACGACTGACTGAGTGCTCTCTATAGGCAGGGCTTATACATGGACACAAGTCCTTCCATCTAAAGCTTTGTTCTGTGATAAATGGCATAATCTTTAGAATTTTGCATGTGGAAAAGCAAGATGGATGCCTACCATAAGATCACCTCATTCACACTTGCTTACTAAGCATAAAAGACCATTTATACACATTTCAAGTATGCAATTCATTATTATTTTTTTCACTAAAATACATACCACACCATTATACTATGTATAGTCAAACTGTCTAAGACCTTATCCATTATTTCTCCATGTTCTTAACTTTGTGTCTCTCAAAATTGCTTGTGTACCTCCTGGGTACTATCTATACCATTTTCCCATTACAATGTAATGGTCAAAATGGTTGTATGTTCTGGTACGGTCATCTATATTATGTCAAGCATTCATATGAAAATGGAAAATATTCAGGGATTTTTATTATCTGTATATTCCAGAAAATGTAGGCAAGATGGCAAGATATTTAGAGATTTGGCCTCATTTTGTTAATTATCATCTGCATGTTTGGCACTAAATGATACCTACCCAGAAGGGGGATCTACTATATCCACTGTAGCCTATGTACTAAATGTACATATACTAAATATACTAAATGGCAACTTTCCTTTCCATTCACTAATGAAAACCATCCAAATCTTAGATTTTAAAATTTTTTACAGAAAGTCTAAAAGCTAAAGGGAGACCAATTGAAATAATTTAGTTCAACTTTGTTAAGTTGTACACTAAGACTTTAAACGGTATATGTTGTATGCTGGGCTTTGCCACTATCTCGTTATGGGACACTGGGCAACTTACTGCATTTGTCTGGGTCTTTCCCTCCTCAACTGTTAAATAGGGGCATTGAATGACAAGTCAGTGGTCTTAGTTGTTGGGGTGTATCTTGGAGCCTTTTAAGAACGTCTTGAAAACTGCCTATTTCCTTCACTTAAAAATAAAAAATAGATATATTTCTATATGCCCACGAAAATATTGCACGCTTATGATTCCATTCCTCTTGAAAGCCATTAATAGATCTTACTTTAAGAATCTCTGAACTAGATTATTTGTAAGGTCCCTCCTGCTTCTAACACTTTTTTATGCAATGAGTTAAATATTTATCTCTGTGGGATCCTGTGGGGCAAAGAGATTGTAAAAGGATAATAATCTTGACTAAACCAGCATAAGTTTTAACTAGACATCTTGCCTCATACAATAATACAGAATTATTATTCAAAATAAGAACTTTCAGAAATACTCAAATAGCTTTCCTTTTGTCCATCCCAGCACATATTTAAAGTATTCTACAGCCTGGATTTTGAATTCAGTTGCTTCCTCCAAATGTAGAGCGGATCCTTCAGGTCACAGTGTGCAGTTGCTGACTGTCATTTCCAAATCACTTCCTTACATAATACTAAGTGTA
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ATGTCCATGAAATTGAATTGAAGTTATTGGTGTTTTATTTGGCTGAGAGGAGTGTAATTGGTTCAGAGATTTTGAAGAGCAGTTAAATAGTATATATCAAAAAACTTTCAGCCAGGCCCAGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCAAGACGGGCAGATCACGAGGTCAGCAGATCGAGACCATCCTGGCTAACACAGTGAAACCCCGTCTCTACTGAAAATACAAAAAAATAGCCAGGCGTGGTGGCGGGCACCTGTAGTCCCACCTACTTGGTAGGCTGAGGCAGGAGAATGGCGTGAACCCAGGAGGCGGAGCTTGCAGTGAGCGGAGATCGTGCCACTATACTCCAGCCTGGGTGACAGAGCAAGACTCCATCTAAAACAAAAAACAAAAAACAAACAAACAAAAAAGACCTTTCTTGATCCCAGGAGTTCGAGGCCAGCCTGGGCAACATGGCGAAACACTATCTCTACCAAATAATAATAATAATAATTAGCCAGGCAGGTTGTCATGCGCCTGTGGTCCCAGCTGCATGGGAGGCTGAAGTAGGAGGATCTCTTGAGCCCAGGAGTTTGAGGCTGCAGTGAGCCATAATTGTGCTGTAGCACACCAGCTTGGATGACAGAGCGAGACTTTGTCTCAAAAAAAAAAAAAAAAAAAAAACTTTTACATATTTACGTATTTTGAAAAATTGCTGAATTTAGGCAACCTATGCTAAGAAAATAGTACAAAATATAAACACAGATTTATGCTTAAAATATTTATCCTGGCATTTTTTAAAATTATTGATATATTATCATATTTGTCAAAATATTATGCAGCAAATTAAAGCATATTTACAGACAATATTGAACAAAATGGGAAATGCATAAGATGTTATATGAGATAAAATGTTTATGCAGACTAATGGTAGTAAATATGCCTAGAAGGAAAGAAATGCAGAATGTTAACTTAGAAGGTAAAATTTCTGCAATGAGCCTATCGTACTTCCACGATATGAAAAAATATAGGGTTTAACAATCTTAGCCATATAACCAAGAAACATCTTGTCACAAGTGCTAAAAGTAAATGTAAAATGTTCAAAATATTTTAAAAGGAGAACAACAGATTTGAAAAATTAGCCAATCTGTCATGTAATAGTTTTGGTTAAAGATGTTTATTATATTCAAAAATGAGTTTTGTTCACGGAATTAAAGTGTTACTAATTTTAAATTCCCCATGAAATGTAATCAACATTAAATGCCAAATAAATGTTTGTTCAAACATCCAGTTTTAACAAAATTTAGTAATTGAAGTATGAAACTAAAAAGTAGGATGATATGTACATGAATGTCAAGTATAAGTACATGAATGTCAAGATAAGTTTGTGCTCTTTCTGTTGTGTATTGCAGAAGGTACTTGAAATACATTTATTGAGGTATACCCCTGAAGTCTAAGTAACCTGTTCCAGTTAATTTCTACATTTTGAAAATATGTATATAATAATGGTATCCAAATTATGCCAAATCTATTCATTATGTTTTAAAATTATTTAGCATAATTTAGTGAAACTATATTTGACATCACATAAACAACCACTCGCTTATGCAGCTGTATTACTCTGCCAGCCAGTGTGATTTGGGTTATGTTATAATATGCAGTAACCTAAGTTTAACCAGCTGAGAAAAGTTGAGAAAAATGATCAAGAAGAGACATAGGACTCATGTTGGATAGTATCATATTTTTACATTACATAATCTCCACACATTTAATTCATGTCATTTGAAGAAGGCAGATTAAGACATTTTCATTTTTGGGGAGTGACCTCATTGCCATAATTTCTTCTAACAATGCATCTGTTTGTTTTTCAGGTGCTTCTTTGCTTTGCATTCGGGCAGATGAGCTACAAGAAGCTCTCACCTCCCACTGTGTGGTCACTAGAGGAGAAACAATTATACGACCCAATACTGTAGAAAAAGCTACCGATGTCAGGGATGCCATGGCTAAAACTTTATATGGACGTCTCTTTAGTTGGATAGTCAATTGCATTAACAGTTGGTTGAAGCATGACTCATCACCAAGGTAAAAATTTTTACAGAAACATTTTTTTCCCAAATGTCAGGTGATGTAAGTCTACTTTCTAATTGATTGTTTTGTATAGATCTCTTTCAAGATGTTTCTATAATTGATGTAATTAAATTATTAAAATGATAATTTAGTAGATAAGCTTCACTTCCTAATAGTTCCACCTCATAATGCCACTTAACTATAAAATTTTTAAGTTGCTGCAACATAAAACCTGTAGCAACATAAATAACACAATAGAAAGTGAATTCTTAAAATGTGATATCTTACTATGAACTAATAGGTTTTTTTAATTAGAAGTTGTACCATGAAGCATATACCATTTTATGCTTGTATAAAATGTCAGCTCAGCAGTCCTTTGTTTTTATTTTGAAGGTTTAAATTAAACTTTGAAGATAAAGGAAAACTTTATTTTCATATTTTAACTCTCACTGTAATGCCATTACAGCCTCACTGTAACTCCAATGAAATTTGGTTCAGAAATGCACTAGATAAATGTAGGTAATAGTAAATGGCAGGGCCATGATGTAAGCATTGTTATCTGACTGTAAGTCTAGATCCTTCCTTCTTAAAGATAATTACAGCCACGACTGACTGAGTGCTCTCTATAGGCAGGGCTTATACATGGACACAAGTCCTTCCATCTAAAGCTTTGTTCTGTGATAAATGGCATAATCTTTAGAATTTTGCATGTGGAAAAGCAAGATGGATGCCTACCATAAGATCACCTCATTCACACTTGCTTACTAAGCATAAAAGACCATTTATACACATTTCAAGTATGCAATTCATTATTATTTTTTTCACTAAAATACATACCACACCATTATACTATGTATAGTCAAACTGTCTAAGACCTTATCCATTATTTCTCCATGTTCTTAACTTTGTGTCTCTCAAAATTGCTTGTGTACCTCCTGGGTACTATCTATACCATTTTCCCATTACAATGTAATGGTCAAAATGGTTGTATGTTCTGGTACGGTCATCTATATTATGTCAAGCATTCATATGAAAATGGAAAATATTCAGGGATTTTTATTATCTGTATATTCCAGAAAATGTAGGCAAGATGGCAAGATATTTAGAGATTTGGCCTCATTTTGTTAATTATCATCTGCATGTTTGGCACTAAATGATACCTACCCAGAAGGGGGATCTACTATATCCACTGTAGCCTATGTACTAAATGTACATATACTAAATATACTAAATGGCAACTTTCCTTTCCATTCACTAATGAAAACCATCCAAATCTTAGATTTTAAAATTTTTTACAGAAAGTCTAAAAGCTAAAGGGAGACCAATTGAAATAATTTAGTTCAACTTTGTTAAGTTGTACACTAAGACTTTAAACGGTATATGTTGTATGCTGGGCTTTGCCACTATCTCGTTATGGGACACTGGGCAACTTACTGCATTTGTCTGGGTCTTTCCCTCCTCAACTGTTAAATAGGGGCATTGAATGACAAGTCAGTGGTCTTAGTTGTTGGGGTGTATCTTGGAGCCTTTTAAGAACGTCTTGAAAACTGCCTATTTCCTTCACTTAAAAATAAAAAATAGATATATTTCTATATGCCCACGAAAATATTGCACGCTTATGATTCCATTCCTCTTGAAAGCCATTAATAGATCTTACTTTAAGAATCTCTGAACTAGATTATTTGTAAGGTCCCTCCTGCTTCTAACACTTTTTTATGCAATGAGTTAAATATTTATCTCTGTGGGATCCTGTGGGGCAAAGAGATTGTAAAAGGATAATAATCTTGACTAAACCAGCATAAGTTTTAACTAGACATCTTGCCTCATACAATAATACAGAATTATTATTCAAAATAAGAACTTTCAGAAATACTCAAATAGCTTTCCTTTTGTCCATCCCAGCACATATTTAAAGTATTCTACAGCCTGGATTTTGAATTCAGTTGCTTCCTCCAAATGTAGAGCGGATCCTTCAGGTCACAGTGTGCAGTTGCTGACTGTCATTTCCAAATCACTTCCTTACATAATACTAAGTGTA
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Task1_train_13678
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The gene PDSS1 (decaprenyl diphosphate synthase subunit 1) is located on Chromosome 10, where a mutation has occurred. What is the medical relevance of this mutation?
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Pathogenic; Deafness-encephaloneuropathy-obesity-valvulopathy syndrome
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TCTTTCAGTTCTGACAGCCATCTGCTTAGCACAGGGCTACTTGCCAGTTCCTACCTGTTTCTGCCTCTGACCCACAACTGCTATGTTACCGGTACAAAACCCCCCACACACAGTGCCCCCTCGGTGAGCCCTTGTTAGGCCTGGCCTGGGCTTCCTAGCACTTCTTTCCTTTAACTCCCACCCCTGGCCGTCACAGTCCTGTGGCTTCCATGTCATATGCTGGACCTTTGGTCTCTAGGATCTCCCCGGCCAGGTGAAGAAGGAACTAAAGGCCAAAGGATCCCGAGCCTTGAGCTGCTAATGATGTAGGGGCTGGGTCGGGGAATGTAAGTGGGTACCTATATATCATAATTTGTAAAATGACTTTATAGGCATATACTTACATCAGGATGTCTTACATAATATGTATATTATATAAAGTGGTGATTAATTGGTAAACACAATGAACATCACTGTTTAGATACTGAAGAACCTAAGACAATAAGTACCTAAATAGTTATGTTAAAAATTCTGTGAACTCTAGCCTTTATGACTAATTACTACAGAATGTAACACTTACGGCTGGGTGTGGTGGCTCACGCCTGTAATCCTAGCACTTTGGGAGGCCGAGGCAGTTGGATCACTTGGGGCCAGGAGTTCGAGACCAGCCTGGCCAACATGGTGAAACCCCATCTCTAGTAAAAATACAAAAATACCTGGGCGTGGTGGTGTACGCTTGTAGTCCCAGCTACTCATGAGGCTGAGGTGGGGGGATTGCTTGAACCCAGGAGGAAGAGTCTGCAGTGAGCCGAGGTCATGCCACTGTACTCAAGCCTGGGCAACAGAGCAAGACTCTTTCTCAAAAAAAAAAAAAAGAATGTAATATATATCTTTAAATATGCAAATTAATGTGATATATAGGGTGTATTTGGTTATAGCATATAATTCAACTATTTATGCAGTAGTTTATAACTAGTTGCTAATACAGTGTAGACATCCATCACAGTCTAAAGAAGACTGGAAATATGTTGATTGCTTAGTGTTCAATGGAAAAACTTTTTTTTTTTTTTGTCTAGGAATGAGGGGCAGTGTCACATAGTACAAAAAGCATTTCACTTGGAGCCAAAATTCTTTGGTTTAATTTTTATTGAAAATAACATGTATCGTGCCATGCTCTGGGGTGTGCTCAGTACTAGCTGAGATGATTCCTAGTCTGAGCTCCCACTCCACTCCACCCTCCCCACTGCCCTGGGAGCATAGAGACTAGAGCATCACTGACTGGTACGCAAGGTGTGATGGTCGCAGCATGCATGGGTGTTGTACACGCACAAAAGGGAGGCATCTGACCAGACTGAGGGATCGGGGGGAACTTCTTAGAGGTGGCATCTGAACCAATTATGCAAATAAGTCCACTCAGTGAAGAAGGGGGCAGAACTTTTTGAGCAGAAGGAACAGTAAGTGGAAAGGCACAAAGGAAGAATGAACATCCAGTGTAGTGAAACTGAAGGCAGCTGCATTTTGGTGGGGCTGGTGAGTGAAGCTGCTCTCCCTCTCCAGGCATTGATTTCTTCAGGTGTCAACTGGGGAGATGGACATGGTCATCTCTGAGAGCCAATACAGTTCAAGTACTGTCCCAAATCTGTAACCGATTATTAGAAACTGGGAAGAGTGACATGGTCATCTCTGAGAGCCAGTCCAGTTCAAACACTGTCCCAAATCTGTAACTGATTATTACGAACTGGGAAGTGACATGGTCATCTCTGAGAGCCAGTCCAGTTCAAACACTGTTCCAAATCTGTAACTGATTGTTACGGACTCCTGTTGAGGAAGAAGAAGGTAAAAAACCCTGCATCCAAGATGAGCCCCCACTTCCACGAAGCTCCCTTCCAGTCAGTTTCATCATTGGCTCTACTGCTCTGATGGATTTTTCAGAACGTTCTGTTTTCCCCCTGTCTTTTTCTAGGCTGTTCTTGCTGGAGATTTAATTCTTTCTGCAGCATCTATAGCTCTGGCACGAATTGGAAATACAACTGTTATATCTATTTTAACCCAAGTTATTGAAGATTTGGTGCGTGGTACGTTGATTCTGATTTTTCTTCTTTGTTATTCAACCCTGGTGTTTAGCCAGGCAATAAAGCCACCTCTCAAATGACTCCTTTCCTTCTTTATAGGTGAATTTCTTCAGCTCGGGTCAAAAGAAAATGAGAATGAAAGATTTGCACACTACCTTGAGAAGACATTCAAGAAGACCGCCAGCCTGATAGCCAACAGTTGTAAAGCAGTATGTACGTTCTGTCTTTCTTCAAGTTAAAGCCTCATAGCTCTTTTTTGGGAGCTAATTTTCCTAGAAAATATTTCGGTGAAGAATCTTAAAATAGTACCCAAAAATCCCAAGAGGTTAATGAGGAAAAGAATGACATCCCCAAACAATAGAGGACTTCTGCTGTGTTTTCATTTTTGCCATCTTCTTTTGGTATGCAGGCGTTGACTTTTCATCTTTTCTTCCCAAGAATTCAATCAAAATAAGCTTTCCCGCACCTTCCCCAATCTGATTGCCAAACTGTATCATTTTGAACAATTTATCATAATTTCTCTAATGATTGATATCACACACACTCTTTCTGACACTTCACCTTTTAGAAATGAAGTGCTCTGTTCTTTAATATAATATTTACTCAGGAAAAGATATCTGTTAGATTGTACTAGCATTCTATGAACTTTTTTTTGTTTTTTTGTTTTTTGTGTTTTTTTGAGACAGAGTCTTTTGCTGTGTGGCCCAGGCTACAAAGCAGTGGTGTGATCTTGGCTCACTACAACCTCCACCTCCCAGGTTCAGGCAATTCTCCTGCCTCAGCTTCCCTAGTAGCTGGGACCACAGGTGTGCGCCATCACACCCAGCTAATTTTTGTATTTTTCATAGGGATGGGGGTTTGCCATGTTGGCCGGGCTGGTCTCAAACTCCTGCCCTCAAGTGATCCACCCACCTTGGCCCTGCAAAGTACTGGGATTACAGGCATGAGCCATTGCACCTGGCCAATACATTGCACCTGGCCAATCCTTCTAATATTTTTACATGAAATATAAACAAGTCCTATTTCTTCAGAGTACAAATTGAGTATAAGCCATAACTGTTTTTCCCCTTGCTTTCTCCCTCCCTCCGCTGTGCATACACATGTATACATTTTTTTTTTAATGAGTAATACCTTTAATCCGTAGACAAATGTGTGGTATTCATCGTTAGTCCAAGAATGAAAAGCAGTCTCTCCATAGAATTGTTTATCTGCCCATCTCTAAGCCTGACAGATACACAGAGACAAAACCTGGACAAATGACATTCCCATGTAATTACAGCCACAAAATAAGGAAGACCTGTAAGGGTCGCATGTCAATTGCTGTCATGATAGACTCCTAACATAATTAACAGGTAAAGAGAGCTTTTGCTCAGACCTCTCAGATGAAAAAGTCTCTTGCTGTTAGTGTCTCTGTTTTGAAAAGTGTCAAGAAATGTATAATTGCAAGGCAGAAAAGAATGAGGACAATCTTTTCTTCCTAAAAAGACCTAATAGAAACTTTAAGGAATGTGAATTATGTAGAACATGCTAGCCACAGTCTCGACCACTTTTGTCTTTTTATTAAAAGGGCTATTATGTTTTTATTTCCAAGAAATTATGTGGGTTTTTTTTTTAAAGTGAGATGGAAGAAAGTATAGACACGAGATGCTAAATAAGAGAATAGCCTATTTTAAGTGGGTGCTCTAACACTTTTACAGTAATCCTTTACATATTATCATGCCCTTGATGGCCCAACTCTCCCTGAAGGTCAGGATCCATCCTCTTAACACATTAGGGTGCCTTAATATTACTTACTAATATTTATCCTTAAGAGGATGTGTTAAGTGAGGCTCATTGATAATTTCACAATTTGAGACTGCAAACTTAGAAGCATTAGCATGGTCAGGCAAGGTGGCTCACACCTGTAATCCCAGCATTTAGGGAGACTGAGGCGGAAGGTTTGCTTGTGACCAGAAGTTCAAGACCAACCTAGGCAACATAGCAAGATCCCCATCTCTACTTAAAAATAATGTTTAAAAAATAAAGTCTTAGAAGCATTAGTAGTA
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TCTTTCAGTTCTGACAGCCATCTGCTTAGCACAGGGCTACTTGCCAGTTCCTACCTGTTTCTGCCTCTGACCCACAACTGCTATGTTACCGGTACAAAACCCCCCACACACAGTGCCCCCTCGGTGAGCCCTTGTTAGGCCTGGCCTGGGCTTCCTAGCACTTCTTTCCTTTAACTCCCACCCCTGGCCGTCACAGTCCTGTGGCTTCCATGTCATATGCTGGACCTTTGGTCTCTAGGATCTCCCCGGCCAGGTGAAGAAGGAACTAAAGGCCAAAGGATCCCGAGCCTTGAGCTGCTAATGATGTAGGGGCTGGGTCGGGGAATGTAAGTGGGTACCTATATATCATAATTTGTAAAATGACTTTATAGGCATATACTTACATCAGGATGTCTTACATAATATGTATATTATATAAAGTGGTGATTAATTGGTAAACACAATGAACATCACTGTTTAGATACTGAAGAACCTAAGACAATAAGTACCTAAATAGTTATGTTAAAAATTCTGTGAACTCTAGCCTTTATGACTAATTACTACAGAATGTAACACTTACGGCTGGGTGTGGTGGCTCACGCCTGTAATCCTAGCACTTTGGGAGGCCGAGGCAGTTGGATCACTTGGGGCCAGGAGTTCGAGACCAGCCTGGCCAACATGGTGAAACCCCATCTCTAGTAAAAATACAAAAATACCTGGGCGTGGTGGTGTACGCTTGTAGTCCCAGCTACTCATGAGGCTGAGGTGGGGGGATTGCTTGAACCCAGGAGGAAGAGTCTGCAGTGAGCCGAGGTCATGCCACTGTACTCAAGCCTGGGCAACAGAGCAAGACTCTTTCTCAAAAAAAAAAAAAAGAATGTAATATATATCTTTAAATATGCAAATTAATGTGATATATAGGGTGTATTTGGTTATAGCATATAATTCAACTATTTATGCAGTAGTTTATAACTAGTTGCTAATACAGTGTAGACATCCATCACAGTCTAAAGAAGACTGGAAATATGTTGATTGCTTAGTGTTCAATGGAAAAACTTTTTTTTTTTTTTGTCTAGGAATGAGGGGCAGTGTCACATAGTACAAAAAGCATTTCACTTGGAGCCAAAATTCTTTGGTTTAATTTTTATTGAAAATAACATGTATCGTGCCATGCTCTGGGGTGTGCTCAGTACTAGCTGAGATGATTCCTAGTCTGAGCTCCCACTCCACTCCACCCTCCCCACTGCCCTGGGAGCATAGAGACTAGAGCATCACTGACTGGTACGCAAGGTGTGATGGTCGCAGCATGCATGGGTGTTGTACACGCACAAAAGGGAGGCATCTGACCAGACTGAGGGATCGGGGGGAACTTCTTAGAGGTGGCATCTGAACCAATTATGCAAATAAGTCCACTCAGTGAAGAAGGGGGCAGAACTTTTTGAGCAGAAGGAACAGTAAGTGGAAAGGCACAAAGGAAGAATGAACATCCAGTGTAGTGAAACTGAAGGCAGCTGCATTTTGGTGGGGCTGGTGAGTGAAGCTGCTCTCCCTCTCCAGGCATTGATTTCTTCAGGTGTCAACTGGGGAGATGGACATGGTCATCTCTGAGAGCCAATACAGTTCAAGTACTGTCCCAAATCTGTAACCGATTATTAGAAACTGGGAAGAGTGACATGGTCATCTCTGAGAGCCAGTCCAGTTCAAACACTGTCCCAAATCTGTAACTGATTATTACGAACTGGGAAGTGACATGGTCATCTCTGAGAGCCAGTCCAGTTCAAACACTGTTCCAAATCTGTAACTGATTGTTACGGACTCCTGTTGAGGAAGAAGAAGGTAAAAAACCCTGCATCCAAGATGAGCCCCCACTTCCACGAAGCTCCCTTCCAGTCAGTTTCATCATTGGCTCTACTGCTCTGATGGATTTTTCAGAACGTTCTGTTTTCCCCCTGTCTTTTTCTAGGCTGTTCTTGCTGGAGATTTAATTCTTTCTGCAGCATCTATAGCTCTGGCACGAATTGGAAATACAACTGTTATATCTATTTTAACCCAAGTTATTGAAGATTTGGGGCGTGGTACGTTGATTCTGATTTTTCTTCTTTGTTATTCAACCCTGGTGTTTAGCCAGGCAATAAAGCCACCTCTCAAATGACTCCTTTCCTTCTTTATAGGTGAATTTCTTCAGCTCGGGTCAAAAGAAAATGAGAATGAAAGATTTGCACACTACCTTGAGAAGACATTCAAGAAGACCGCCAGCCTGATAGCCAACAGTTGTAAAGCAGTATGTACGTTCTGTCTTTCTTCAAGTTAAAGCCTCATAGCTCTTTTTTGGGAGCTAATTTTCCTAGAAAATATTTCGGTGAAGAATCTTAAAATAGTACCCAAAAATCCCAAGAGGTTAATGAGGAAAAGAATGACATCCCCAAACAATAGAGGACTTCTGCTGTGTTTTCATTTTTGCCATCTTCTTTTGGTATGCAGGCGTTGACTTTTCATCTTTTCTTCCCAAGAATTCAATCAAAATAAGCTTTCCCGCACCTTCCCCAATCTGATTGCCAAACTGTATCATTTTGAACAATTTATCATAATTTCTCTAATGATTGATATCACACACACTCTTTCTGACACTTCACCTTTTAGAAATGAAGTGCTCTGTTCTTTAATATAATATTTACTCAGGAAAAGATATCTGTTAGATTGTACTAGCATTCTATGAACTTTTTTTTGTTTTTTTGTTTTTTGTGTTTTTTTGAGACAGAGTCTTTTGCTGTGTGGCCCAGGCTACAAAGCAGTGGTGTGATCTTGGCTCACTACAACCTCCACCTCCCAGGTTCAGGCAATTCTCCTGCCTCAGCTTCCCTAGTAGCTGGGACCACAGGTGTGCGCCATCACACCCAGCTAATTTTTGTATTTTTCATAGGGATGGGGGTTTGCCATGTTGGCCGGGCTGGTCTCAAACTCCTGCCCTCAAGTGATCCACCCACCTTGGCCCTGCAAAGTACTGGGATTACAGGCATGAGCCATTGCACCTGGCCAATACATTGCACCTGGCCAATCCTTCTAATATTTTTACATGAAATATAAACAAGTCCTATTTCTTCAGAGTACAAATTGAGTATAAGCCATAACTGTTTTTCCCCTTGCTTTCTCCCTCCCTCCGCTGTGCATACACATGTATACATTTTTTTTTTAATGAGTAATACCTTTAATCCGTAGACAAATGTGTGGTATTCATCGTTAGTCCAAGAATGAAAAGCAGTCTCTCCATAGAATTGTTTATCTGCCCATCTCTAAGCCTGACAGATACACAGAGACAAAACCTGGACAAATGACATTCCCATGTAATTACAGCCACAAAATAAGGAAGACCTGTAAGGGTCGCATGTCAATTGCTGTCATGATAGACTCCTAACATAATTAACAGGTAAAGAGAGCTTTTGCTCAGACCTCTCAGATGAAAAAGTCTCTTGCTGTTAGTGTCTCTGTTTTGAAAAGTGTCAAGAAATGTATAATTGCAAGGCAGAAAAGAATGAGGACAATCTTTTCTTCCTAAAAAGACCTAATAGAAACTTTAAGGAATGTGAATTATGTAGAACATGCTAGCCACAGTCTCGACCACTTTTGTCTTTTTATTAAAAGGGCTATTATGTTTTTATTTCCAAGAAATTATGTGGGTTTTTTTTTTAAAGTGAGATGGAAGAAAGTATAGACACGAGATGCTAAATAAGAGAATAGCCTATTTTAAGTGGGTGCTCTAACACTTTTACAGTAATCCTTTACATATTATCATGCCCTTGATGGCCCAACTCTCCCTGAAGGTCAGGATCCATCCTCTTAACACATTAGGGTGCCTTAATATTACTTACTAATATTTATCCTTAAGAGGATGTGTTAAGTGAGGCTCATTGATAATTTCACAATTTGAGACTGCAAACTTAGAAGCATTAGCATGGTCAGGCAAGGTGGCTCACACCTGTAATCCCAGCATTTAGGGAGACTGAGGCGGAAGGTTTGCTTGTGACCAGAAGTTCAAGACCAACCTAGGCAACATAGCAAGATCCCCATCTCTACTTAAAAATAATGTTTAAAAAATAAAGTCTTAGAAGCATTAGTAGTA
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Task1_train_13679
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A variant affecting Chromosome 10, within the gene PDSS1 (decaprenyl diphosphate synthase subunit 1), has been observed. Determine if it's benign or associated with disease.
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Pathogenic; Deafness-encephaloneuropathy-obesity-valvulopathy syndrome
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CCCCCTCGGTGAGCCCTTGTTAGGCCTGGCCTGGGCTTCCTAGCACTTCTTTCCTTTAACTCCCACCCCTGGCCGTCACAGTCCTGTGGCTTCCATGTCATATGCTGGACCTTTGGTCTCTAGGATCTCCCCGGCCAGGTGAAGAAGGAACTAAAGGCCAAAGGATCCCGAGCCTTGAGCTGCTAATGATGTAGGGGCTGGGTCGGGGAATGTAAGTGGGTACCTATATATCATAATTTGTAAAATGACTTTATAGGCATATACTTACATCAGGATGTCTTACATAATATGTATATTATATAAAGTGGTGATTAATTGGTAAACACAATGAACATCACTGTTTAGATACTGAAGAACCTAAGACAATAAGTACCTAAATAGTTATGTTAAAAATTCTGTGAACTCTAGCCTTTATGACTAATTACTACAGAATGTAACACTTACGGCTGGGTGTGGTGGCTCACGCCTGTAATCCTAGCACTTTGGGAGGCCGAGGCAGTTGGATCACTTGGGGCCAGGAGTTCGAGACCAGCCTGGCCAACATGGTGAAACCCCATCTCTAGTAAAAATACAAAAATACCTGGGCGTGGTGGTGTACGCTTGTAGTCCCAGCTACTCATGAGGCTGAGGTGGGGGGATTGCTTGAACCCAGGAGGAAGAGTCTGCAGTGAGCCGAGGTCATGCCACTGTACTCAAGCCTGGGCAACAGAGCAAGACTCTTTCTCAAAAAAAAAAAAAAGAATGTAATATATATCTTTAAATATGCAAATTAATGTGATATATAGGGTGTATTTGGTTATAGCATATAATTCAACTATTTATGCAGTAGTTTATAACTAGTTGCTAATACAGTGTAGACATCCATCACAGTCTAAAGAAGACTGGAAATATGTTGATTGCTTAGTGTTCAATGGAAAAACTTTTTTTTTTTTTTGTCTAGGAATGAGGGGCAGTGTCACATAGTACAAAAAGCATTTCACTTGGAGCCAAAATTCTTTGGTTTAATTTTTATTGAAAATAACATGTATCGTGCCATGCTCTGGGGTGTGCTCAGTACTAGCTGAGATGATTCCTAGTCTGAGCTCCCACTCCACTCCACCCTCCCCACTGCCCTGGGAGCATAGAGACTAGAGCATCACTGACTGGTACGCAAGGTGTGATGGTCGCAGCATGCATGGGTGTTGTACACGCACAAAAGGGAGGCATCTGACCAGACTGAGGGATCGGGGGGAACTTCTTAGAGGTGGCATCTGAACCAATTATGCAAATAAGTCCACTCAGTGAAGAAGGGGGCAGAACTTTTTGAGCAGAAGGAACAGTAAGTGGAAAGGCACAAAGGAAGAATGAACATCCAGTGTAGTGAAACTGAAGGCAGCTGCATTTTGGTGGGGCTGGTGAGTGAAGCTGCTCTCCCTCTCCAGGCATTGATTTCTTCAGGTGTCAACTGGGGAGATGGACATGGTCATCTCTGAGAGCCAATACAGTTCAAGTACTGTCCCAAATCTGTAACCGATTATTAGAAACTGGGAAGAGTGACATGGTCATCTCTGAGAGCCAGTCCAGTTCAAACACTGTCCCAAATCTGTAACTGATTATTACGAACTGGGAAGTGACATGGTCATCTCTGAGAGCCAGTCCAGTTCAAACACTGTTCCAAATCTGTAACTGATTGTTACGGACTCCTGTTGAGGAAGAAGAAGGTAAAAAACCCTGCATCCAAGATGAGCCCCCACTTCCACGAAGCTCCCTTCCAGTCAGTTTCATCATTGGCTCTACTGCTCTGATGGATTTTTCAGAACGTTCTGTTTTCCCCCTGTCTTTTTCTAGGCTGTTCTTGCTGGAGATTTAATTCTTTCTGCAGCATCTATAGCTCTGGCACGAATTGGAAATACAACTGTTATATCTATTTTAACCCAAGTTATTGAAGATTTGGTGCGTGGTACGTTGATTCTGATTTTTCTTCTTTGTTATTCAACCCTGGTGTTTAGCCAGGCAATAAAGCCACCTCTCAAATGACTCCTTTCCTTCTTTATAGGTGAATTTCTTCAGCTCGGGTCAAAAGAAAATGAGAATGAAAGATTTGCACACTACCTTGAGAAGACATTCAAGAAGACCGCCAGCCTGATAGCCAACAGTTGTAAAGCAGTATGTACGTTCTGTCTTTCTTCAAGTTAAAGCCTCATAGCTCTTTTTTGGGAGCTAATTTTCCTAGAAAATATTTCGGTGAAGAATCTTAAAATAGTACCCAAAAATCCCAAGAGGTTAATGAGGAAAAGAATGACATCCCCAAACAATAGAGGACTTCTGCTGTGTTTTCATTTTTGCCATCTTCTTTTGGTATGCAGGCGTTGACTTTTCATCTTTTCTTCCCAAGAATTCAATCAAAATAAGCTTTCCCGCACCTTCCCCAATCTGATTGCCAAACTGTATCATTTTGAACAATTTATCATAATTTCTCTAATGATTGATATCACACACACTCTTTCTGACACTTCACCTTTTAGAAATGAAGTGCTCTGTTCTTTAATATAATATTTACTCAGGAAAAGATATCTGTTAGATTGTACTAGCATTCTATGAACTTTTTTTTGTTTTTTTGTTTTTTGTGTTTTTTTGAGACAGAGTCTTTTGCTGTGTGGCCCAGGCTACAAAGCAGTGGTGTGATCTTGGCTCACTACAACCTCCACCTCCCAGGTTCAGGCAATTCTCCTGCCTCAGCTTCCCTAGTAGCTGGGACCACAGGTGTGCGCCATCACACCCAGCTAATTTTTGTATTTTTCATAGGGATGGGGGTTTGCCATGTTGGCCGGGCTGGTCTCAAACTCCTGCCCTCAAGTGATCCACCCACCTTGGCCCTGCAAAGTACTGGGATTACAGGCATGAGCCATTGCACCTGGCCAATACATTGCACCTGGCCAATCCTTCTAATATTTTTACATGAAATATAAACAAGTCCTATTTCTTCAGAGTACAAATTGAGTATAAGCCATAACTGTTTTTCCCCTTGCTTTCTCCCTCCCTCCGCTGTGCATACACATGTATACATTTTTTTTTTAATGAGTAATACCTTTAATCCGTAGACAAATGTGTGGTATTCATCGTTAGTCCAAGAATGAAAAGCAGTCTCTCCATAGAATTGTTTATCTGCCCATCTCTAAGCCTGACAGATACACAGAGACAAAACCTGGACAAATGACATTCCCATGTAATTACAGCCACAAAATAAGGAAGACCTGTAAGGGTCGCATGTCAATTGCTGTCATGATAGACTCCTAACATAATTAACAGGTAAAGAGAGCTTTTGCTCAGACCTCTCAGATGAAAAAGTCTCTTGCTGTTAGTGTCTCTGTTTTGAAAAGTGTCAAGAAATGTATAATTGCAAGGCAGAAAAGAATGAGGACAATCTTTTCTTCCTAAAAAGACCTAATAGAAACTTTAAGGAATGTGAATTATGTAGAACATGCTAGCCACAGTCTCGACCACTTTTGTCTTTTTATTAAAAGGGCTATTATGTTTTTATTTCCAAGAAATTATGTGGGTTTTTTTTTTAAAGTGAGATGGAAGAAAGTATAGACACGAGATGCTAAATAAGAGAATAGCCTATTTTAAGTGGGTGCTCTAACACTTTTACAGTAATCCTTTACATATTATCATGCCCTTGATGGCCCAACTCTCCCTGAAGGTCAGGATCCATCCTCTTAACACATTAGGGTGCCTTAATATTACTTACTAATATTTATCCTTAAGAGGATGTGTTAAGTGAGGCTCATTGATAATTTCACAATTTGAGACTGCAAACTTAGAAGCATTAGCATGGTCAGGCAAGGTGGCTCACACCTGTAATCCCAGCATTTAGGGAGACTGAGGCGGAAGGTTTGCTTGTGACCAGAAGTTCAAGACCAACCTAGGCAACATAGCAAGATCCCCATCTCTACTTAAAAATAATGTTTAAAAAATAAAGTCTTAGAAGCATTAGTAGTAGTGAGACTATTGGAATTGGAAACACCAAGACTTACTGTCTGCACCATGCAGACATCCTGCAGGCACGGGGTGGGGCGGCACCAAATTGGAGCTAGCACAGAAATTCACTCAGTGA
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CCCCCTCGGTGAGCCCTTGTTAGGCCTGGCCTGGGCTTCCTAGCACTTCTTTCCTTTAACTCCCACCCCTGGCCGTCACAGTCCTGTGGCTTCCATGTCATATGCTGGACCTTTGGTCTCTAGGATCTCCCCGGCCAGGTGAAGAAGGAACTAAAGGCCAAAGGATCCCGAGCCTTGAGCTGCTAATGATGTAGGGGCTGGGTCGGGGAATGTAAGTGGGTACCTATATATCATAATTTGTAAAATGACTTTATAGGCATATACTTACATCAGGATGTCTTACATAATATGTATATTATATAAAGTGGTGATTAATTGGTAAACACAATGAACATCACTGTTTAGATACTGAAGAACCTAAGACAATAAGTACCTAAATAGTTATGTTAAAAATTCTGTGAACTCTAGCCTTTATGACTAATTACTACAGAATGTAACACTTACGGCTGGGTGTGGTGGCTCACGCCTGTAATCCTAGCACTTTGGGAGGCCGAGGCAGTTGGATCACTTGGGGCCAGGAGTTCGAGACCAGCCTGGCCAACATGGTGAAACCCCATCTCTAGTAAAAATACAAAAATACCTGGGCGTGGTGGTGTACGCTTGTAGTCCCAGCTACTCATGAGGCTGAGGTGGGGGGATTGCTTGAACCCAGGAGGAAGAGTCTGCAGTGAGCCGAGGTCATGCCACTGTACTCAAGCCTGGGCAACAGAGCAAGACTCTTTCTCAAAAAAAAAAAAAAGAATGTAATATATATCTTTAAATATGCAAATTAATGTGATATATAGGGTGTATTTGGTTATAGCATATAATTCAACTATTTATGCAGTAGTTTATAACTAGTTGCTAATACAGTGTAGACATCCATCACAGTCTAAAGAAGACTGGAAATATGTTGATTGCTTAGTGTTCAATGGAAAAACTTTTTTTTTTTTTTGTCTAGGAATGAGGGGCAGTGTCACATAGTACAAAAAGCATTTCACTTGGAGCCAAAATTCTTTGGTTTAATTTTTATTGAAAATAACATGTATCGTGCCATGCTCTGGGGTGTGCTCAGTACTAGCTGAGATGATTCCTAGTCTGAGCTCCCACTCCACTCCACCCTCCCCACTGCCCTGGGAGCATAGAGACTAGAGCATCACTGACTGGTACGCAAGGTGTGATGGTCGCAGCATGCATGGGTGTTGTACACGCACAAAAGGGAGGCATCTGACCAGACTGAGGGATCGGGGGGAACTTCTTAGAGGTGGCATCTGAACCAATTATGCAAATAAGTCCACTCAGTGAAGAAGGGGGCAGAACTTTTTGAGCAGAAGGAACAGTAAGTGGAAAGGCACAAAGGAAGAATGAACATCCAGTGTAGTGAAACTGAAGGCAGCTGCATTTTGGTGGGGCTGGTGAGTGAAGCTGCTCTCCCTCTCCAGGCATTGATTTCTTCAGGTGTCAACTGGGGAGATGGACATGGTCATCTCTGAGAGCCAATACAGTTCAAGTACTGTCCCAAATCTGTAACCGATTATTAGAAACTGGGAAGAGTGACATGGTCATCTCTGAGAGCCAGTCCAGTTCAAACACTGTCCCAAATCTGTAACTGATTATTACGAACTGGGAAGTGACATGGTCATCTCTGAGAGCCAGTCCAGTTCAAACACTGTTCCAAATCTGTAACTGATTGTTACGGACTCCTGTTGAGGAAGAAGAAGGTAAAAAACCCTGCATCCAAGATGAGCCCCCACTTCCACGAAGCTCCCTTCCAGTCAGTTTCATCATTGGCTCTACTGCTCTGATGGATTTTTCAGAACGTTCTGTTTTCCCCCTGTCTTTTTCTAGGCTGTTCTTGCTGGAGATTTAATTCTTTCTGCAGCATCTATAGCTCTGGCACGAATTGGAAATACAACTGTTATATCTATTTTAACCCAAGTTATTGAAGATTTGGTGCGTGGTACGTTGATTCTGATTTTTCTTCTTTGTTATTCAACCCTGGTGTTTAGCCAGGCAATAAAGCCACCTCTCAAATGACTCCTTTCCTTCTTTATAGGTGAATTTCTTCATCTCGGGTCAAAAGAAAATGAGAATGAAAGATTTGCACACTACCTTGAGAAGACATTCAAGAAGACCGCCAGCCTGATAGCCAACAGTTGTAAAGCAGTATGTACGTTCTGTCTTTCTTCAAGTTAAAGCCTCATAGCTCTTTTTTGGGAGCTAATTTTCCTAGAAAATATTTCGGTGAAGAATCTTAAAATAGTACCCAAAAATCCCAAGAGGTTAATGAGGAAAAGAATGACATCCCCAAACAATAGAGGACTTCTGCTGTGTTTTCATTTTTGCCATCTTCTTTTGGTATGCAGGCGTTGACTTTTCATCTTTTCTTCCCAAGAATTCAATCAAAATAAGCTTTCCCGCACCTTCCCCAATCTGATTGCCAAACTGTATCATTTTGAACAATTTATCATAATTTCTCTAATGATTGATATCACACACACTCTTTCTGACACTTCACCTTTTAGAAATGAAGTGCTCTGTTCTTTAATATAATATTTACTCAGGAAAAGATATCTGTTAGATTGTACTAGCATTCTATGAACTTTTTTTTGTTTTTTTGTTTTTTGTGTTTTTTTGAGACAGAGTCTTTTGCTGTGTGGCCCAGGCTACAAAGCAGTGGTGTGATCTTGGCTCACTACAACCTCCACCTCCCAGGTTCAGGCAATTCTCCTGCCTCAGCTTCCCTAGTAGCTGGGACCACAGGTGTGCGCCATCACACCCAGCTAATTTTTGTATTTTTCATAGGGATGGGGGTTTGCCATGTTGGCCGGGCTGGTCTCAAACTCCTGCCCTCAAGTGATCCACCCACCTTGGCCCTGCAAAGTACTGGGATTACAGGCATGAGCCATTGCACCTGGCCAATACATTGCACCTGGCCAATCCTTCTAATATTTTTACATGAAATATAAACAAGTCCTATTTCTTCAGAGTACAAATTGAGTATAAGCCATAACTGTTTTTCCCCTTGCTTTCTCCCTCCCTCCGCTGTGCATACACATGTATACATTTTTTTTTTAATGAGTAATACCTTTAATCCGTAGACAAATGTGTGGTATTCATCGTTAGTCCAAGAATGAAAAGCAGTCTCTCCATAGAATTGTTTATCTGCCCATCTCTAAGCCTGACAGATACACAGAGACAAAACCTGGACAAATGACATTCCCATGTAATTACAGCCACAAAATAAGGAAGACCTGTAAGGGTCGCATGTCAATTGCTGTCATGATAGACTCCTAACATAATTAACAGGTAAAGAGAGCTTTTGCTCAGACCTCTCAGATGAAAAAGTCTCTTGCTGTTAGTGTCTCTGTTTTGAAAAGTGTCAAGAAATGTATAATTGCAAGGCAGAAAAGAATGAGGACAATCTTTTCTTCCTAAAAAGACCTAATAGAAACTTTAAGGAATGTGAATTATGTAGAACATGCTAGCCACAGTCTCGACCACTTTTGTCTTTTTATTAAAAGGGCTATTATGTTTTTATTTCCAAGAAATTATGTGGGTTTTTTTTTTAAAGTGAGATGGAAGAAAGTATAGACACGAGATGCTAAATAAGAGAATAGCCTATTTTAAGTGGGTGCTCTAACACTTTTACAGTAATCCTTTACATATTATCATGCCCTTGATGGCCCAACTCTCCCTGAAGGTCAGGATCCATCCTCTTAACACATTAGGGTGCCTTAATATTACTTACTAATATTTATCCTTAAGAGGATGTGTTAAGTGAGGCTCATTGATAATTTCACAATTTGAGACTGCAAACTTAGAAGCATTAGCATGGTCAGGCAAGGTGGCTCACACCTGTAATCCCAGCATTTAGGGAGACTGAGGCGGAAGGTTTGCTTGTGACCAGAAGTTCAAGACCAACCTAGGCAACATAGCAAGATCCCCATCTCTACTTAAAAATAATGTTTAAAAAATAAAGTCTTAGAAGCATTAGTAGTAGTGAGACTATTGGAATTGGAAACACCAAGACTTACTGTCTGCACCATGCAGACATCCTGCAGGCACGGGGTGGGGCGGCACCAAATTGGAGCTAGCACAGAAATTCACTCAGTGA
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Task1_train_13680
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Given this variant in gene PDSS1 (decaprenyl diphosphate synthase subunit 1) on Chromosome 10, classify it as benign or pathogenic. Include the disorder it may cause if applicable.
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Pathogenic; Deafness-encephaloneuropathy-obesity-valvulopathy syndrome
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GTTGCTGTTGAAAGCAGTTATGAGCTTACTGTTCACTCAACTCAGTGGCCACCTGACCCTTTATGGTGCATGCAATTTTACCATGTACTTATGGCCAAGCACTACATAGTCAACAGACCTCATTAAGTTGTCAAAAAGCATTCTCAGGCTGAGGACGTTAGGCAACCTGGCTTTAGTTGGCAGAGGTGCGTGGACACTGCCAAGGCTCCTATTTCTGGTTCCAGTGGATGAGGTGGAGGAGGATTATTTGTAATAATAGCAAACAGCCAGGTGCGGTGGCTCACACCTGATAATCTCAACGCTTTGGGAGGTGGAGGTGGGAGGATCACGAGCCCAGGAGTTTGAGGCCAGCCTAGACAACATGGTGAGACTCCATCTCTATGAAAAAATTAAAAATTAGCTGGGTGTGGTTGCGCGTGCCTGTAGTCCCAGCTACTCAGGAGACTGAGGCGGAAGGAACCCTTGAGCCCAGGAGTTCAAGGTTACAGTGAGCTATGATCGCACCACTGTACCCCAGCCTGGGCAACAGAGTGAGACCCTATTTCTAAAAAGAGATAATAATAGCAAACACACATTGAGTTCTAACCAGGTGCCAGGCAGTATACTGAGGGCTTAAATGCAGCATCATGTCTGTTTCTCACAGCAACCCTACAAGGTAAGTGCTTGTGATTTCTACATTGTACAGATGAGCAAGAGAGATTCAGTAACATGCCGAGGTCTTGTAGAGGGCACAAATGCAGCCCCACAGTCTCACAGCAGAGCCCGCAGCACTGCACCACACTGACGCCTGAGCAAAGTTCACTCCCTGACTGGAGAGCCACAGAGGCACGACCGAAGGTCAGGGGACAGGGTTTCCTAGCATCCGCGAGCCTTACAGAAAGGCAACTGTGCAGTGCTCCAGCTGGCTTTCTCATGGAGAGTCAACAGAGACATTTCCCCTCCAGTAGAACACAGACCGTCTCTCCCCTCCCCCTTGTTGGTTTTACCCAGGCTTTGTTTTCTGAAAATGTGGCTGGGCCTGCTTAACATGCTTAGCAGGGCACTGGGAAATGCACTTCAGTGGCCGGTGCCAGCTAGCTTTTTGGAGTTTTAAAAAGACTTTCAGAAGTCTTATTTCTCCCCCATTGAAAGGAGGGAAAAGGGTTTTTATACAGTTACTTCTTTTGAGAGAAATGTGGAAACAGTGGGACCAGTGAAGTTCCTTCCGATAATGAAAGAGCGATATCTGTGTCTGAAGCAGGAGGCTTGAGATGATTTTTATGGACACACCAAGAAATAACTGCATTCAGAAACAGGTGAAATTCCCAACGATGATGAAAAGAAAGGACTACAGATGGGAAAATTGTGTGTGATTACATTAGTATCTCTTCCTGAAATGAGGGATACATTGATAGAGATGATTAAAGCCAACAGTAATCGGGCTAGCTTGCCGAGTGCTAGAAGTCAGTATTTCACAGATGGGGGTCCGTTTCTTTTGCATGTCAAGAAGGTTTACTTAGCATGTTACCAGCAGAACTAGTCCAGTTGTAGCTCAGTTTTTCCTAAGCAGTGGGAAAGGCTGCTTATCCTGTCTGAAAGCAGGGGTTGGAGAAGGAGAATTTTCTTAGAATTTAACAACACAATCTGAGACTGAAATTCTTGACTGGAAATGCGGTTTTGTACATGCTTGGTGTCCCTCTGATGTCAGCATCTCCTGAGTGTGTATAATCTAGCCCCGCTGCCTCCTATTTTAAGGAATTCCTTCAGCCAGGGGTCAGCTGCTTTGTTGCTGCCTGGAAGCAGCTTATCTCAGAATGCTCTTTCTGTTTCAGGTCTCTGTTCTAGGATGTCCCGACCCAGTGGTGCATGAGATCGCCTATCAGTACGGAAAAAATGTAGGAATAGCTTTTCAGGTTAGTATGCTTTTTATTTGTAAGAATGGTGGCGTAGTGATACAGTCAGCATTCTCCCCTAGTGTGTAATCGTCAAAATAGTAAGAACGATGGCAGCAGTGTTGGCATGGCGGTGCTCCTTACATCCCATTTTTCCTTTTGCCAGCTAATAGATGATGTATTGGACTTCACCTCGTGTTCTGACCAGATGGGCAAACCAACATCAGCTGATCTGAAGCTCGGGTTAGCCACTGGTCCTGTCCTGTTTGCCTGTCAGCAGGTAGGTTTTACAAACTCCCTTTGACACATCACTGCATAGCCCCACAGAACTGATGTCCCGCGGCACAGCTGATGGGAAGATTGCATAAAGGAATAGATGGGAAGGCATTCAGATAAGAGATCACAGGTCTGCATTTGATCCTGGCTGAGTGAGATGTTGGGGCTGGTCATTTCACCTTGCTAAGACTGTTTCCTTATCTGTGAAATTGAGAAGATCACCTTTCTCCCAGGGTGGTTGTGAGGATTAGCTAAGATCCTATTTGAGATCTTTGTGTCTTGTGGTGTGCCATAGGCATTTGAGGTAGCATCGTGATTATTTCCATATATTTTGGCCACTGGCAAAGTGAACGGTTTCTAAGTCTTGATTATAGGACTGGACTTTGGTGGTCCTCAGAGCCCCTTAAAAGGCATAGGAAGCATCAAGGGCCTCCAAGCATAAGAAATTCTCCGGTTCTAGAAGTTTAATGAGACTCTGCTGCTCTGAGAGAGGCTTTAGAACCTCGGCCATTGCCTCAAAATGTCAGGAAGTCAGTGGAGTGCAGTAGACCCACATAGTTCCTTCTTTCTCCGGATTGAGGGACTGAGTCCCCCTTAATGTGAATGAAAGGCTTAGGAAGCTTCAAAGATGTTCCCTCGACTGACAAAGCAGACATTCTCACAGCCTCCTCCAGACCCTGCCACATGGCTTGTGGCTGTACTGAATGTTACTTGAAATAAGTGAGACATTAGCTGGTGTTGGAACATCTCGTTAATAGATTTTCATCTTAGTAGTATTTAATTTGTTATGTTGCAAAGCAGTAAGATGTTCATCACCGTGCCATGAAATTCAACATTAGCTCTTTGGTGTAAAATTATAGTAACTTTTGGTCTTTCAGAGATTTTGCCTCTATTCTGTCTTCACGTTTACAAAGGTCAGTCATGTCCTCCATAAAATTCAGTGATTCCACTGTGATACAGAAACCACGGCCCTTGCTTTTGGTGGGTTTCTGATTGGAGAGAGGAAAGGTCATCTTTCACCCACTATCTAGCATAGCCATTGGCAGCATGATTCTTCCCAGGGGAGGCTGACGTTCTGGGTGGCTGGACCAGGCTACTTTGGCAGCTTGCTAAGGCTATGAATGGAGATGTTGGGGTACTCGGTAGGAACACCCACCCTCATTATTACAAGGCTTCCATCCTCTCAAACTTTGGAGGCTGAGGTAAGAAGTGAAAGGTATGCTGTAAATAGGTCCTCTCTCCCAATGAGGCTTACTTGCCAGCCCAAAATCAAAGAGTATAATACATGTGCCCAGTTTTGACAAAAATTTATAAAACCTCCTTTTGTACATTAAGGCAAGAGTGAGGAACATTTGAGCCATGTAGGTGTTATGCTGGGGATTAGAAAAATGAGGCACTGGCTACCAGTAACCTATATAACTGCGAACATTACTTCTCAGATACTTGTTAGTAAACATGAGTGAAGGAAAGCAAGATGGACTGAGTGTGCTGAAATCCAGCTAGCTTGGTAAAGATTCCTTTACCTAGGCTCAGATTATCAGGATAAAAGGAAAAAGCCTTTTTCCCTGGAGAAGTCTATGAGAAAGTTTTGGTTGCTCTATTTGTAAAAATCTTCAAATTGTTAAGTACTTGTTATGAACCCCAGGATACTAAGTTACCGGTTGAGTCCTACTTAAACCTTAAGGTGACTGGGTGAGAGGAGGCTGGCCTCTTCGGACTGTGTTTCACTCTGAATATATTTCAGAAGAAACTAACTTACTTTCCCCTACACACACAAAGGAGTAATGGCTATCTCTGCTTTCATATATAGTGGGGGAAAGGGGAAATGGACCTCTGCATAGTATCTGTCAGTAATCTACAAGAGACTGAAAAATGCTGGTTAGGCGGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCTGAGGCAGTTGGATTATGAGGTCAGGA
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GTTGCTGTTGAAAGCAGTTATGAGCTTACTGTTCACTCAACTCAGTGGCCACCTGACCCTTTATGGTGCATGCAATTTTACCATGTACTTATGGCCAAGCACTACATAGTCAACAGACCTCATTAAGTTGTCAAAAAGCATTCTCAGGCTGAGGACGTTAGGCAACCTGGCTTTAGTTGGCAGAGGTGCGTGGACACTGCCAAGGCTCCTATTTCTGGTTCCAGTGGATGAGGTGGAGGAGGATTATTTGTAATAATAGCAAACAGCCAGGTGCGGTGGCTCACACCTGATAATCTCAACGCTTTGGGAGGTGGAGGTGGGAGGATCACGAGCCCAGGAGTTTGAGGCCAGCCTAGACAACATGGTGAGACTCCATCTCTATGAAAAAATTAAAAATTAGCTGGGTGTGGTTGCGCGTGCCTGTAGTCCCAGCTACTCAGGAGACTGAGGCGGAAGGAACCCTTGAGCCCAGGAGTTCAAGGTTACAGTGAGCTATGATCGCACCACTGTACCCCAGCCTGGGCAACAGAGTGAGACCCTATTTCTAAAAAGAGATAATAATAGCAAACACACATTGAGTTCTAACCAGGTGCCAGGCAGTATACTGAGGGCTTAAATGCAGCATCATGTCTGTTTCTCACAGCAACCCTACAAGGTAAGTGCTTGTGATTTCTACATTGTACAGATGAGCAAGAGAGATTCAGTAACATGCCGAGGTCTTGTAGAGGGCACAAATGCAGCCCCACAGTCTCACAGCAGAGCCCGCAGCACTGCACCACACTGACGCCTGAGCAAAGTTCACTCCCTGACTGGAGAGCCACAGAGGCACGACCGAAGGTCAGGGGACAGGGTTTCCTAGCATCCGCGAGCCTTACAGAAAGGCAACTGTGCAGTGCTCCAGCTGGCTTTCTCATGGAGAGTCAACAGAGACATTTCCCCTCCAGTAGAACACAGACCGTCTCTCCCCTCCCCCTTGTTGGTTTTACCCAGGCTTTGTTTTCTGAAAATGTGGCTGGGCCTGCTTAACATGCTTAGCAGGGCACTGGGAAATGCACTTCAGTGGCCGGTGCCAGCTAGCTTTTTGGAGTTTTAAAAAGACTTTCAGAAGTCTTATTTCTCCCCCATTGAAAGGAGGGAAAAGGGTTTTTATACAGTTACTTCTTTTGAGAGAAATGTGGAAACAGTGGGACCAGTGAAGTTCCTTCCGATAATGAAAGAGCGATATCTGTGTCTGAAGCAGGAGGCTTGAGATGATTTTTATGGACACACCAAGAAATAACTGCATTCAGAAACAGGTGAAATTCCCAACGATGATGAAAAGAAAGGACTACAGATGGGAAAATTGTGTGTGATTACATTAGTATCTCTTCCTGAAATGAGGGATACATTGATAGAGATGATTAAAGCCAACAGTAATCGGGCTAGCTTGCCGAGTGCTAGAAGTCAGTATTTCACAGATGGGGGTCCGTTTCTTTTGCATGTCAAGAAGGTTTACTTAGCATGTTACCAGCAGAACTAGTCCAGTTGTAGCTCAGTTTTTCCTAAGCAGTGGGAAAGGCTGCTTATCCTGTCTGAAAGCAGGGGTTGGAGAAGGAGAATTTTCTTAGAATTTAACAACACAATCTGAGACTGAAATTCTTGACTGGAAATGCGGTTTTGTACATGCTTGGTGTCCCTCTGATGTCAGCATCTCCTGAGTGTGTATAATCTAGCCCCGCTGCCTCCTATTTTAAGGAATTCCTTCAGCCAGGGGTCAGCTGCTTTGTTGCTGCCTGGAAGCAGCTTATCTCAGAATGCTCTTTCTGTTTCAGGTCTCTGTTCTAGGATGTCCCGACCCAGTGGTGCATGAGATCGCCTATCAGTACGGAAAAAATGTAGGAATAGCTTTTCAGGTTAGTATGCTTTTTATTTGTAAGAATGGTGGCGTAGTGATACAGTCAGCATTCTCCCCTAGTGTGTAATCGTCAAAATAGTAAGAACGATGGCAGCAGTGTTGGCATGGCGGTGCTCCTTACATCCCATTTTTCCTTTTGCCAGCTAATAGATGAGGTATTGGACTTCACCTCGTGTTCTGACCAGATGGGCAAACCAACATCAGCTGATCTGAAGCTCGGGTTAGCCACTGGTCCTGTCCTGTTTGCCTGTCAGCAGGTAGGTTTTACAAACTCCCTTTGACACATCACTGCATAGCCCCACAGAACTGATGTCCCGCGGCACAGCTGATGGGAAGATTGCATAAAGGAATAGATGGGAAGGCATTCAGATAAGAGATCACAGGTCTGCATTTGATCCTGGCTGAGTGAGATGTTGGGGCTGGTCATTTCACCTTGCTAAGACTGTTTCCTTATCTGTGAAATTGAGAAGATCACCTTTCTCCCAGGGTGGTTGTGAGGATTAGCTAAGATCCTATTTGAGATCTTTGTGTCTTGTGGTGTGCCATAGGCATTTGAGGTAGCATCGTGATTATTTCCATATATTTTGGCCACTGGCAAAGTGAACGGTTTCTAAGTCTTGATTATAGGACTGGACTTTGGTGGTCCTCAGAGCCCCTTAAAAGGCATAGGAAGCATCAAGGGCCTCCAAGCATAAGAAATTCTCCGGTTCTAGAAGTTTAATGAGACTCTGCTGCTCTGAGAGAGGCTTTAGAACCTCGGCCATTGCCTCAAAATGTCAGGAAGTCAGTGGAGTGCAGTAGACCCACATAGTTCCTTCTTTCTCCGGATTGAGGGACTGAGTCCCCCTTAATGTGAATGAAAGGCTTAGGAAGCTTCAAAGATGTTCCCTCGACTGACAAAGCAGACATTCTCACAGCCTCCTCCAGACCCTGCCACATGGCTTGTGGCTGTACTGAATGTTACTTGAAATAAGTGAGACATTAGCTGGTGTTGGAACATCTCGTTAATAGATTTTCATCTTAGTAGTATTTAATTTGTTATGTTGCAAAGCAGTAAGATGTTCATCACCGTGCCATGAAATTCAACATTAGCTCTTTGGTGTAAAATTATAGTAACTTTTGGTCTTTCAGAGATTTTGCCTCTATTCTGTCTTCACGTTTACAAAGGTCAGTCATGTCCTCCATAAAATTCAGTGATTCCACTGTGATACAGAAACCACGGCCCTTGCTTTTGGTGGGTTTCTGATTGGAGAGAGGAAAGGTCATCTTTCACCCACTATCTAGCATAGCCATTGGCAGCATGATTCTTCCCAGGGGAGGCTGACGTTCTGGGTGGCTGGACCAGGCTACTTTGGCAGCTTGCTAAGGCTATGAATGGAGATGTTGGGGTACTCGGTAGGAACACCCACCCTCATTATTACAAGGCTTCCATCCTCTCAAACTTTGGAGGCTGAGGTAAGAAGTGAAAGGTATGCTGTAAATAGGTCCTCTCTCCCAATGAGGCTTACTTGCCAGCCCAAAATCAAAGAGTATAATACATGTGCCCAGTTTTGACAAAAATTTATAAAACCTCCTTTTGTACATTAAGGCAAGAGTGAGGAACATTTGAGCCATGTAGGTGTTATGCTGGGGATTAGAAAAATGAGGCACTGGCTACCAGTAACCTATATAACTGCGAACATTACTTCTCAGATACTTGTTAGTAAACATGAGTGAAGGAAAGCAAGATGGACTGAGTGTGCTGAAATCCAGCTAGCTTGGTAAAGATTCCTTTACCTAGGCTCAGATTATCAGGATAAAAGGAAAAAGCCTTTTTCCCTGGAGAAGTCTATGAGAAAGTTTTGGTTGCTCTATTTGTAAAAATCTTCAAATTGTTAAGTACTTGTTATGAACCCCAGGATACTAAGTTACCGGTTGAGTCCTACTTAAACCTTAAGGTGACTGGGTGAGAGGAGGCTGGCCTCTTCGGACTGTGTTTCACTCTGAATATATTTCAGAAGAAACTAACTTACTTTCCCCTACACACACAAAGGAGTAATGGCTATCTCTGCTTTCATATATAGTGGGGGAAAGGGGAAATGGACCTCTGCATAGTATCTGTCAGTAATCTACAAGAGACTGAAAAATGCTGGTTAGGCGGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCTGAGGCAGTTGGATTATGAGGTCAGGA
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Task1_train_13681
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Given a variant located on Chromosome 10 and affecting PDSS1 (decaprenyl diphosphate synthase subunit 1), assess whether it is benign or pathogenic. Indicate the associated disease if pathogenic.
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Pathogenic; Deafness-encephaloneuropathy-obesity-valvulopathy syndrome
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CCTAGGATCCATTAAATCCGAAGGCAAAAGAAAGTCACCACACATCAGGACTAAAATGTTGACTTCCCATAAACACTATTTTATTTTATTTTTATTTTATTATTTTATTTTATTGTATTTTTCTTAGACTGAGTCTTGCTCTGTTGCCAGGCTCAAGTTGCAGTGGCACAATCTTGGCTCACTGCAACCTCCGCCTCCCGGGTTCAAGTGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCACCCGCCACCACGCCCGGCTGATTTTTGTATTTTTAGTGGAGACGGGGTTTCACCATGTTGGCCATTATGGTCTCGATCTTGACGTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGAATACAGGCGTGAGCCACCGCGCTCAGTCCCCATGAACACTTTCTGGGTAGGTTATTTGCAGATGTACTTCAGGAAAACGTGTGGAAAACACTGAGAGAAGGCAGGCTTCTGTACAAAAAGGAACAGCAAACTAAAATATGTCATGTTTTGAGCAACTGGTATAGAAAATCAGATGTATTTCAACCACAATGTTAGGAATATTCCATTTCTAAATGTCAGAGGGGTCCGGGCGCAGTGGCTCACACCTGTAATCGCAGCATTTTGGGAGGCCAAGGTGGGTGGATCACTTGAGGTCAGGAGTTTGAGACCAGCCTGGCCAACATGGTGAAACCCCGTCTCTACTAAAAATACAAACATTAGCCAGGCGTGGTAGTGCACGCCTATAATCCTAGCTACTTAGGAGGCTGAGGCACGAGAATCCCTTGAGCCTGGGAGGCAGAGGTTGCAGTGAGCCAAGATCACGCCACTGCATTCCAGCCTGGGCGACAGAGCAAGATTCCATCTCAAAAAAAATTTAAAAAAAATAAATAAATGTCAGAGGGATCATGAGCCATGGAGAAGGAAATAGAATTATAGTATATGACTTGATTCTGCAATAAATATTTTTACATCATAGAAATGATACTTTATTAGTATTTGGCTTTTAGAAAGAACCAATATTTTAAAACATGGTTATAGAATAGGATGTAAATATCTATAGTCTAACAAACAGTATAGTTAAAGGAAAGGACAAGAGCTCATAGAAGATAAAATCTGAAGTTGATGCTACCTAACAGAAGTAATCAACAAAACAACTAAAGACAGCAGTGTGATGATGAGGCGGCACATTGTGGGTGGGCTAAACCCTCATCTTAACAAAAAGGTAACAGGTAATAACTAAAATTGGTAATCAAGAAATAAAAACTAGGCTGGGCACGGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCCAAGGCAGGCAGATCACTTGAGGCCAGGAGTTCGAGACCAGCCTGGCCAACATGACAAAACCCCATCTCTACTAAAAATACAAAAATTAGCCGGGCATGGTGGCACGCGCCTGTAGTCCCAGCTACTTGGGAGGCTGAGGCAGGACAATCGCTTGAGCCCGGGAGGTGAAGGTTGCAGTGAGCCAAGATCATGTCATGCACTCTAGCTTGGGTGACAGAGTGAGACCCTGTCTCAAAAAAAAAGAAAAAAGAAAAAAAAAACTATTGGATAAAGTGAGTGCCTTTGGAAGAAAGGAAGCTGATTTTCATCATAAACCCTCTGTACTTTCATTTTGTTATGTCTTTATTCTTTATTTTTTAAGTAAGTTTTACTTGTGTTTTTTTTACATTTAAAAATGTTGTATAAAGATACTTTGTACATAGAACTTCTGAGAAATTCTAATAAGTAAAAATTAGGGGAAAACGAATGACTATGTAATATTGATGAGCTAGTTGCTTTGCATGCTAATAGAATAAAAATTTGCTTCAATATGAGAAAAAGGCCTAAAGGAAGTTAGCACTATGAGTCGGGAAAAGAACATTAGAGATGTAGTTTGACTGTTAACTGTAATCCTCAGCTCATCTGATCTCAAAACTATGTGTTCATTTATTATAGCAGGAAGTTAAAACGCTGATTCAGTCAGTGACAGGCATCTGTTCTGTTTTGTTCTGTATCTTATAGAGTGATGGTGTGCAACAAACAACCTACCTCGCCCAGCAGTACTGCCATGAAGCAATAAGAGAGATCAGTAAACTTCGACCATCCCCAGAAAGAGATGCCCTCATTCAGCTTTCAGAAATTGTACTCACAAGAGATAAATGACAACTCTTTCTGTTCTTTCTGGCAGCTATCTTACCAGACTGTGCCTAAAGAATTTTGTGGAATACACTTTGTTTGCTTCATGTGCAGATAACCAAAAATCATTTTAAAAGATATCAAACTTATTGATGGGCAATTTATTTTTTTTTATTGCAAAAGTTTTTTCAGAAAACTTTTTAAATGTAATTAATAAACCACCTGAATCTGTCATTCTAGTCCTATAAATTATAATCAAGGTATCTTGATGGTTATATGTGGTATTGTTTACACTGTTAATATCCACATGTAAGGCCATTACACAAATAAATAACCAATGTTAAAATTCAAATGGTTTGTCTTGATTTACCGTAGGAGTAAAGGTCAGAAAAATGTGAAGTCTGCATTGAAGTCCACATGAGTTATATTTTAACAGTATCCAAAATTTCATATAGGAGAATGGTTTATTATAAAAGACTGTACATAAAATTTAGACAACAGGTTATATACAAATTAAGAGAACAATCCACTTGAAAAATGGAAAGTAGAAGGTAGCTAGCTGATCACTAATGATACTTTGTTTGTTTAAAATTAACAAAGGCAAAATGCATATGAAATAGTCACATTGATTTGGTAGCAATAATGGTCTTTAATTTTCAGAAATAACTGTTTTGCACTAGTCTTACCATTCACTATGCTGTTATAAGTCTGTAGCATCCAGTACATAACTGTAATTTGAATTCCAAACAAATCCTCAATAACACAGAAACCCACACTTGAGTGCTCTACTTTAATATCCTAAGCAATAGAGAATTATACACAAGACAAGAAGAGAAAACATCCCTCAGCCCTCCCTTCAATTAAGAGGAGACACACAAAGTGCATGTGTTGCATTTTGATTATGTCAAAAGACAATCCAAGTCTGTTGGTTAGGTAAATCTCTGTTCACTGATTAATACATGACCCACCTTCTTTCCCAATTATTTTATTTTAAAATTCTAATGTTGCTAGTGCCAGGTAATGGATTAAAGAGTGCCTACTCACAAATCAACTGTATCCACTTTTACAATATGTAAAAGGTACTTTTAACTTCCTTTCATTGAACCAGTGTACAACAGTTCACTGTACAACTGAAGGACTGACATGGCAATCCTTAAGAATTTTACCTACAGAATGAATGCACACAATTTGACACATTTTCTTAGTTTCAAAAGATTATTTAAAAAAGGAATTCAGTAGATTGACTTGTAAATAACCATTGCAGATTTTGAATCTGCAAAAATCCGTCACATTGCTGTTGGGACAGATTAAGATAAGGCTAAAATTTTTTTCCAAGTTAACATATTGAGAAAATAGAATCATAATTCTGCAATAAATCATTATCTTTTATTTTTTTTAAAGCAAATCAGTGAAGGAAAGGACAAAAACCTTTGGTTCACTTATGTATTTATGAATGGAAAAAGTTTATAATGCAAATTTCACTCATTAAAAAACTTAGGTACAAATTACAACATTACAGATAATTCTCTTTTTGCTTGTTTCACATGGAGACCTTGGAGACTCAATTCACGTTAAGACACCTAAGTACGAGTCCTCCAGGTAAATATTACACAAATGGGAAGCATCTTGAATTTTTAAGTATATTTCAATACATAAATTTTTATGCATGCTTTAAACAAACAGTATTTTTTTTAAATGAGAGAATCTAACAAAAAAAGTCTGACCAGCACCAGCATTTAAATTTTCTGATTTTAATATTAGTCTGACATAGCGTTAGTAACCATGCTGCACTGAAACATGTAATGGTACAATCTGAATCATGATTCGTTAAATATTATACCCCACTTCCCCCAGAATATTTAGGCTGGTCATAAAGTTAAAAATGTGTAAGTAAGTACATAAGCATAATCAGTTATGGACAGCTTCTTGTATAA
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CCTAGGATCCATTAAATCCGAAGGCAAAAGAAAGTCACCACACATCAGGACTAAAATGTTGACTTCCCATAAACACTATTTTATTTTATTTTTATTTTATTATTTTATTTTATTGTATTTTTCTTAGACTGAGTCTTGCTCTGTTGCCAGGCTCAAGTTGCAGTGGCACAATCTTGGCTCACTGCAACCTCCGCCTCCCGGGTTCAAGTGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCACCCGCCACCACGCCCGGCTGATTTTTGTATTTTTAGTGGAGACGGGGTTTCACCATGTTGGCCATTATGGTCTCGATCTTGACGTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGAATACAGGCGTGAGCCACCGCGCTCAGTCCCCATGAACACTTTCTGGGTAGGTTATTTGCAGATGTACTTCAGGAAAACGTGTGGAAAACACTGAGAGAAGGCAGGCTTCTGTACAAAAAGGAACAGCAAACTAAAATATGTCATGTTTTGAGCAACTGGTATAGAAAATCAGATGTATTTCAACCACAATGTTAGGAATATTCCATTTCTAAATGTCAGAGGGGTCCGGGCGCAGTGGCTCACACCTGTAATCGCAGCATTTTGGGAGGCCAAGGTGGGTGGATCACTTGAGGTCAGGAGTTTGAGACCAGCCTGGCCAACATGGTGAAACCCCGTCTCTACTAAAAATACAAACATTAGCCAGGCGTGGTAGTGCACGCCTATAATCCTAGCTACTTAGGAGGCTGAGGCACGAGAATCCCTTGAGCCTGGGAGGCAGAGGTTGCAGTGAGCCAAGATCACGCCACTGCATTCCAGCCTGGGCGACAGAGCAAGATTCCATCTCAAAAAAAATTTAAAAAAAATAAATAAATGTCAGAGGGATCATGAGCCATGGAGAAGGAAATAGAATTATAGTATATGACTTGATTCTGCAATAAATATTTTTACATCATAGAAATGATACTTTATTAGTATTTGGCTTTTAGAAAGAACCAATATTTTAAAACATGGTTATAGAATAGGATGTAAATATCTATAGTCTAACAAACAGTATAGTTAAAGGAAAGGACAAGAGCTCATAGAAGATAAAATCTGAAGTTGATGCTACCTAACAGAAGTAATCAACAAAACAACTAAAGACAGCAGTGTGATGATGAGGCGGCACATTGTGGGTGGGCTAAACCCTCATCTTAACAAAAAGGTAACAGGTAATAACTAAAATTGGTAATCAAGAAATAAAAACTAGGCTGGGCACGGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCCAAGGCAGGCAGATCACTTGAGGCCAGGAGTTCGAGACCAGCCTGGCCAACATGACAAAACCCCATCTCTACTAAAAATACAAAAATTAGCCGGGCATGGTGGCACGCGCCTGTAGTCCCAGCTACTTGGGAGGCTGAGGCAGGACAATCGCTTGAGCCCGGGAGGTGAAGGTTGCAGTGAGCCAAGATCATGTCATGCACTCTAGCTTGGGTGACAGAGTGAGACCCTGTCTCAAAAAAAAAGAAAAAAGAAAAAAAAAACTATTGGATAAAGTGAGTGCCTTTGGAAGAAAGGAAGCTGATTTTCATCATAAACCCTCTGTACTTTCATTTTGTTATGTCTTTATTCTTTATTTTTTAAGTAAGTTTTACTTGTGTTTTTTTTACATTTAAAAATGTTGTATAAAGATACTTTGTACATAGAACTTCTGAGAAATTCTAATAAGTAAAAATTAGGGGAAAACGAATGACTATGTAATATTGATGAGCTAGTTGCTTTGCATGCTAATAGAATAAAAATTTGCTTCAATATGAGAAAAAGGCCTAAAGGAAGTTAGCACTATGAGTCGGGAAAAGAACATTAGAGATGTAGTTTGACTGTTAACTGTAATCCTCAGCTCATCTGATCTCAAAACTATGTGTTCATTTATTATAGCAGGAAGTTAAAACGCTGATTCAGTCAGTGACAGGCATCTGTTCTGTTTTGTTCTGTATCTTATAGCGTGATGGTGTGCAACAAACAACCTACCTCGCCCAGCAGTACTGCCATGAAGCAATAAGAGAGATCAGTAAACTTCGACCATCCCCAGAAAGAGATGCCCTCATTCAGCTTTCAGAAATTGTACTCACAAGAGATAAATGACAACTCTTTCTGTTCTTTCTGGCAGCTATCTTACCAGACTGTGCCTAAAGAATTTTGTGGAATACACTTTGTTTGCTTCATGTGCAGATAACCAAAAATCATTTTAAAAGATATCAAACTTATTGATGGGCAATTTATTTTTTTTTATTGCAAAAGTTTTTTCAGAAAACTTTTTAAATGTAATTAATAAACCACCTGAATCTGTCATTCTAGTCCTATAAATTATAATCAAGGTATCTTGATGGTTATATGTGGTATTGTTTACACTGTTAATATCCACATGTAAGGCCATTACACAAATAAATAACCAATGTTAAAATTCAAATGGTTTGTCTTGATTTACCGTAGGAGTAAAGGTCAGAAAAATGTGAAGTCTGCATTGAAGTCCACATGAGTTATATTTTAACAGTATCCAAAATTTCATATAGGAGAATGGTTTATTATAAAAGACTGTACATAAAATTTAGACAACAGGTTATATACAAATTAAGAGAACAATCCACTTGAAAAATGGAAAGTAGAAGGTAGCTAGCTGATCACTAATGATACTTTGTTTGTTTAAAATTAACAAAGGCAAAATGCATATGAAATAGTCACATTGATTTGGTAGCAATAATGGTCTTTAATTTTCAGAAATAACTGTTTTGCACTAGTCTTACCATTCACTATGCTGTTATAAGTCTGTAGCATCCAGTACATAACTGTAATTTGAATTCCAAACAAATCCTCAATAACACAGAAACCCACACTTGAGTGCTCTACTTTAATATCCTAAGCAATAGAGAATTATACACAAGACAAGAAGAGAAAACATCCCTCAGCCCTCCCTTCAATTAAGAGGAGACACACAAAGTGCATGTGTTGCATTTTGATTATGTCAAAAGACAATCCAAGTCTGTTGGTTAGGTAAATCTCTGTTCACTGATTAATACATGACCCACCTTCTTTCCCAATTATTTTATTTTAAAATTCTAATGTTGCTAGTGCCAGGTAATGGATTAAAGAGTGCCTACTCACAAATCAACTGTATCCACTTTTACAATATGTAAAAGGTACTTTTAACTTCCTTTCATTGAACCAGTGTACAACAGTTCACTGTACAACTGAAGGACTGACATGGCAATCCTTAAGAATTTTACCTACAGAATGAATGCACACAATTTGACACATTTTCTTAGTTTCAAAAGATTATTTAAAAAAGGAATTCAGTAGATTGACTTGTAAATAACCATTGCAGATTTTGAATCTGCAAAAATCCGTCACATTGCTGTTGGGACAGATTAAGATAAGGCTAAAATTTTTTTCCAAGTTAACATATTGAGAAAATAGAATCATAATTCTGCAATAAATCATTATCTTTTATTTTTTTTAAAGCAAATCAGTGAAGGAAAGGACAAAAACCTTTGGTTCACTTATGTATTTATGAATGGAAAAAGTTTATAATGCAAATTTCACTCATTAAAAAACTTAGGTACAAATTACAACATTACAGATAATTCTCTTTTTGCTTGTTTCACATGGAGACCTTGGAGACTCAATTCACGTTAAGACACCTAAGTACGAGTCCTCCAGGTAAATATTACACAAATGGGAAGCATCTTGAATTTTTAAGTATATTTCAATACATAAATTTTTATGCATGCTTTAAACAAACAGTATTTTTTTTAAATGAGAGAATCTAACAAAAAAAGTCTGACCAGCACCAGCATTTAAATTTTCTGATTTTAATATTAGTCTGACATAGCGTTAGTAACCATGCTGCACTGAAACATGTAATGGTACAATCTGAATCATGATTCGTTAAATATTATACCCCACTTCCCCCAGAATATTTAGGCTGGTCATAAAGTTAAAAATGTGTAAGTAAGTACATAAGCATAATCAGTTATGGACAGCTTCTTGTATAA
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Task1_train_13682
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Given this context: Chromosome 10, gene YME1L1 (YME1 like 1 ATPase) — does this variant present pathogenic behavior, and if so, what disease does it relate to?
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Pathogenic; Optic atrophy 11
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CCTGTAATCCTAGCATTTTAAGAGGTCAAGGCAGGAGGATCACTTGATCCCTGGAGTTCAAGACCAGCCTGGACAACAGGGCAAGATTCCATCTCCACAAAAATTAGCTGGGCGTGGTGGCACATGCCTGTGATCCTAGCTACTCAGGAGGCTGAGGTGAGAGGATCACTTGAGCCCAGAAAGTTAAGGCTACAATGAGCCATGATTGCACCACTGCACTCTGGCTTAGGCAATGAAGCAAGACCGTGTCTCAAAAACAAACACAAACAAAAAATAAAGAAACAAAAACCTTTATGAAGCCATTCACACTTCCTGTTCTCCAATTTGTTTTCTCTCTTGAGAAAGGGAAACCATCAGCAGTATCGCCATTTCTACATAGATTAAGTTACAAATATAGTGGAATTTAATCAATAGATGGTCTTAGAAAAGTTACTTAAAACTTAAATGTAGGACTATGACTTCCTTTCAGTTACTCTTCTCAAACACGGATGGTGTCAATTCAACTTACCATTGGTTTTTTGTGTGAGTGCTTGAGCTTTCAGAAAACCTTCCGCAAAACCAGTTTTAAATGCATCTTGGTGAGCTTCAGGTATATTTTTGGTTTTCATGAGTTTGTCCAAACTCTCAACATCTGATCCTCTGTCCCGCAAAAGAAACCCCTGAATACACAAACAACACATCAGTACTGGTTAACAACACAGTGATACTTCCCAACAATATTGTGACCACTCAAAAAAATTCACTAAAATTCTGTATAATTTTTACTGTCAATGTGAAGAAACAGATTAAGACTCAGCAATGAATTAATCAATAACTAGGAAACTAACACTAGATCCCATTCCTGCATCAATCAATTAATAATATAAAGAAAGTGGCATTATTCTCTGCACGAACACTACACTGAAAACAGGTCACATATTATTTTAGGGTTTGATTGGCTTAATGTTCATATCCCTCTATCTTTGCTAGAGGAAAAAATCTCATTAATTTACTAAATGTCTACTAAGCACCGTTCATATACTTGGCCTTATATAAGTTCTGAAGATGTAAAGATAAATAAACCACTGATCTTAAAGTTTTCAGTCTACTGGAAAAAGATATATAAATAACTAAGTTTCTTAAATCATTTTGATATTATGTTAGAAGTATTATGTATGGTGGTAAATCAATGCTACCTCAGGAATATGGAAAAGGCCTTACAGAGAATAGGACATCTAAAACACAGGGAATAAACACTATGAACAATCTGACGGAGGCATGAATCAATAGCCTTCAGTGCTCAAGAACTGTAAGCAATCTTATATAAGACTTCAATGCCAAGAGAGGAGCAGGGAAACAGAGGGGCATATTGAATGGTGAGAAGAGAAACATGGCAGGTAGAGATCAAATGATGAAATTCCCAGTGTATCAGGTGGAGGTAAGCAATAAAGCAGAGTAATATAACTAGATCATTATTTTAGAAAGATTGATGGGTGGCAGTCTGGAGGCTGGACTGAACGCAGCAAGACTAGAGGCAAGGAGACTAAACAAGTATTCATTACAGTAATTTAGGCAACAAATAGTTATAGCCTATCTATGGCAGTGGAACAGATGTAAGAAATATTTAGGAGGTTGGATCAACAGGACTTTAGTGGTTAATGGATGTGGGAGGTAAGGCAACATGGACAAACGTAGGTTGATAGCCAGGTTTTTAGCTTGGGTGGATGCTGCTCATTAATACAGAGAACACCTCGACAGGTGTAGGTTTGTGGGAAAAAAATCTAGTAAGTGGAGAGGCAAGTCTGGTGCCCAGAAGAGTTAGAGGTATAATGATTACACAGGTTACTAATCCCTTATTATTAGTGGAAAGAAGGAAGAATATCTATCAGCCAACAAAAGAAATCAGATATTGAAGCTCCTCACTCTAACAACTTGAAAATATTTGCTTTTTGGATCATAAAAAGGTCTAATTACCTTCACGAATGATGGCGCTATATTCTGTGTTTCAGCTAATCTCTCGGAGGTAGACTGGAGACGTCGTGTCCTTGATTTCAAAGTTTTAAAACCCCGAGACTGTATGAAAACTAAATAAAACAATACCATTCACTGTCACTATAAATTGTTACAGGAAAAGAAAAATGCCTAAGATTCTAAAGTCTGACACCCTACCTGTATATCCTAGTCTATCTAATTTGCCTGACACTTCAATACGTTTTCCTTTGTTTCCTTCTTTTTTGTAGAGACGGGGTCTCCTTTTATTGCCCAGGCTGGCCTTGAACTCCTGGGCTCAAGCAGTCCTCTTGCCTCAGCCTCCCAAAGAGCTGGGATTAGGTCTGAGAACTTAAATCTATCATGCCCAGCTTATAGTTTTTTCTATCCTCCTTTTTTCAAAAGGAACTTTATTTATTTATTTATTTATTTATTTATTTATTTATTTATTTATTTGAGATGGAGTTTCACTCTTGTTGCCCAGGCTGGAGTGCAAGGCATTGCTGCTCACTGCAACCTCCGCCTCCTGGGTTCAAGCAACTATCCTGCCTCAGCCTCCTAACCTCAGGTGATCCACCTGCCTTGGCCTCCCACAGTGCTGGGATTATAGGCGTGAGCCACCGCGCCTGGCCTATTTTTTATGTTGATAGGGGATAAAGGTAAATAGAGAAGTCAGAGGGTTATACAATATAATTTAAAAAACTGAGTATCAACTCTGATAAACTGTGATTTCAAAAAAAAAAAAAAACCCAACCAAGTAATTAAAATAGATTGAATCTACACAACTGATTTTTACATGTTTTTGGTAATTACATAATGTTTTTGAAAAAAGGGTAAGTGTATCAAATTAGTGTCTTCTAATTTCTCAAGCCCCAATCCCACTTCCCAGAAGTATAACCTGTTAACAATTCTGACTACCCTTGTATGCATGCACACAGGTGCTCTTTCTATAAAAACTACTCTAGAAATAGTACCTAATTTTTTGCAATTTTCATTTTTCGTGCATATTTTTCAGAACAGAACAGTGCATTCAGTTTAATGGCTGTTTACACTTTTCCAATTTATCACAGTGCAATTCATTCAACCATTTCCCTGAACATTATTTGTTTTCTGGTTTTTATTGCTGGAAACAATACTGTGGTGAACATTCTTATATATGTATGTCAGCAGATGTAGACTGAATTCCTGAAAGAAACACTGTTAAGGTTTAAATTTTGTTTGACACTAAGAGACTACTTTCTAAAAAAGGCTGTTATCAATTTATGTGCCCACCAATGCTTATGAGTTTCCTTTTCTTCATATCCTTGCCGACACTAAATAATATGAATCTTTTAAATTTGTGCAAGTCTGACGGGCAAAAATAACAGTACCTTGTTTTACTTTGCATTTCCCAGATTACAAGTGTGGGAAAATTTTGAAAAGCTTCCTCTGTATTTTTATTGACTATTTTTATTTTTATTTCTTTAGTAAATTGACCATGCATGTCCTTTGCACATTTTTCCATTTTTATTTAGATAATATGGATGTTACAGATAGTAATCTTTAGTTATATATATTGTAAACATTTATTTTAATGTGTCTTTGTCTTTCGATCATATACAGTAATTTATTAGCTCAGTGCAGCCATACCTTTGCTGTGTTTTCTGCATTTTAACTTGATTAGAGTTTCATTGCCAAACTAAGATTTTAAAGGTAGTCTACTTACTTCTAATATTTTCAGTTTTATATTTTTGTTTTCAACCCTTTAACATATTTGGAACTTTTTTTTTTGGTATGATGTAAGAAAAGAACTTGATTTTTCCAAAACAGCCACTTAGGCTGATAACATTTGATAATCCATCATTTGCTTATTGATTCAAAATTCTTAATTTTGTTGCACTGATGTATGTCAGCACTAGGTTAAATTTTTTAATTTTAGTTATTTGTAATACTACACTACTGATTTCCATGGCTAAATATCTGTATTTTCATGTACTTAAGTAGGATAAAATCCCCTTCATTAGTATTCTTTTAACATGTACTCAGTTATTCCAAATTAAGTTTAAAATCAACTTCTCGATTTCCCAAGTGGGTCATTAGAGTTTTGATTGGGGTTGTATTGACTTTACAAATTTGGGTGTAAATTGAT
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CCTGTAATCCTAGCATTTTAAGAGGTCAAGGCAGGAGGATCACTTGATCCCTGGAGTTCAAGACCAGCCTGGACAACAGGGCAAGATTCCATCTCCACAAAAATTAGCTGGGCGTGGTGGCACATGCCTGTGATCCTAGCTACTCAGGAGGCTGAGGTGAGAGGATCACTTGAGCCCAGAAAGTTAAGGCTACAATGAGCCATGATTGCACCACTGCACTCTGGCTTAGGCAATGAAGCAAGACCGTGTCTCAAAAACAAACACAAACAAAAAATAAAGAAACAAAAACCTTTATGAAGCCATTCACACTTCCTGTTCTCCAATTTGTTTTCTCTCTTGAGAAAGGGAAACCATCAGCAGTATCGCCATTTCTACATAGATTAAGTTACAAATATAGTGGAATTTAATCAATAGATGGTCTTAGAAAAGTTACTTAAAACTTAAATGTAGGACTATGACTTCCTTTCAGTTACTCTTCTCAAACACGGATGGTGTCAATTCAACTTACCATTGGTTTTTTGTGTGAGTGCTTGAGCTTTCAGAAAACCTTCCGCAAAACCAGTTTTAAATGCATCTTGGTGAGCTTCAGGTATATTTTTGGTTTTCATGAGTTTGTCCAAACTCTCAACATCTGATCCTCTGTCCCGCAAAAGAAACCCCTGAATACACAAACAACACATCAGTACTGGTTAACAACACAGTGATACTTCCCAACAATATTGTGACCACTCAAAAAAATTCACTAAAATTCTGTATAATTTTTACTGTCAATGTGAAGAAACAGATTAAGACTCAGCAATGAATTAATCAATAACTAGGAAACTAACACTAGATCCCATTCCTGCATCAATCAATTAATAATATAAAGAAAGTGGCATTATTCTCTGCACGAACACTACACTGAAAACAGGTCACATATTATTTTAGGGTTTGATTGGCTTAATGTTCATATCCCTCTATCTTTGCTAGAGGAAAAAATCTCATTAATTTACTAAATGTCTACTAAGCACCGTTCATATACTTGGCCTTATATAAGTTCTGAAGATGTAAAGATAAATAAACCACTGATCTTAAAGTTTTCAGTCTACTGGAAAAAGATATATAAATAACTAAGTTTCTTAAATCATTTTGATATTATGTTAGAAGTATTATGTATGGTGGTAAATCAATGCTACCTCAGGAATATGGAAAAGGCCTTACAGAGAATAGGACATCTAAAACACAGGGAATAAACACTATGAACAATCTGACGGAGGCATGAATCAATAGCCTTCAGTGCTCAAGAACTGTAAGCAATCTTATATAAGACTTCAATGCCAAGAGAGGAGCAGGGAAACAGAGGGGCATATTGAATGGTGAGAAGAGAAACATGGCAGGTAGAGATCAAATGATGAAATTCCCAGTGTATCAGGTGGAGGTAAGCAATAAAGCAGAGTAATATAACTAGATCATTATTTTAGAAAGATTGATGGGTGGCAGTCTGGAGGCTGGACTGAACGCAGCAAGACTAGAGGCAAGGAGACTAAACAAGTATTCATTACAGTAATTTAGGCAACAAATAGTTATAGCCTATCTATGGCAGTGGAACAGATGTAAGAAATATTTAGGAGGTTGGATCAACAGGACTTTAGTGGTTAATGGATGTGGGAGGTAAGGCAACATGGACAAACGTAGGTTGATAGCCAGGTTTTTAGCTTGGGTGGATGCTGCTCATTAATACAGAGAACACCTCGACAGGTGTAGGTTTGTGGGAAAAAAATCTAGTAAGTGGAGAGGCAAGTCTGGTGCCCAGAAGAGTTAGAGGTATAATGATTACACAGGTTACTAATCCCTTATTATTAGTGGAAAGAAGGAAGAATATCTATCAGCCAACAAAAGAAATCAGATATTGAAGCTCCTCACTCTAACAACTTGAAAATATTTGCTTTTTGGATCATAAAAAGGTCTAATTACCTTCACGAATGATGGCGCTATATTCTGTGTTTCAGCTAATCTCTCGGAGGTAGACTGGAGACGTCGTGTCCTTGATTTCAAAGTTTTAAAACCCCAAGACTGTATGAAAACTAAATAAAACAATACCATTCACTGTCACTATAAATTGTTACAGGAAAAGAAAAATGCCTAAGATTCTAAAGTCTGACACCCTACCTGTATATCCTAGTCTATCTAATTTGCCTGACACTTCAATACGTTTTCCTTTGTTTCCTTCTTTTTTGTAGAGACGGGGTCTCCTTTTATTGCCCAGGCTGGCCTTGAACTCCTGGGCTCAAGCAGTCCTCTTGCCTCAGCCTCCCAAAGAGCTGGGATTAGGTCTGAGAACTTAAATCTATCATGCCCAGCTTATAGTTTTTTCTATCCTCCTTTTTTCAAAAGGAACTTTATTTATTTATTTATTTATTTATTTATTTATTTATTTATTTATTTGAGATGGAGTTTCACTCTTGTTGCCCAGGCTGGAGTGCAAGGCATTGCTGCTCACTGCAACCTCCGCCTCCTGGGTTCAAGCAACTATCCTGCCTCAGCCTCCTAACCTCAGGTGATCCACCTGCCTTGGCCTCCCACAGTGCTGGGATTATAGGCGTGAGCCACCGCGCCTGGCCTATTTTTTATGTTGATAGGGGATAAAGGTAAATAGAGAAGTCAGAGGGTTATACAATATAATTTAAAAAACTGAGTATCAACTCTGATAAACTGTGATTTCAAAAAAAAAAAAAAACCCAACCAAGTAATTAAAATAGATTGAATCTACACAACTGATTTTTACATGTTTTTGGTAATTACATAATGTTTTTGAAAAAAGGGTAAGTGTATCAAATTAGTGTCTTCTAATTTCTCAAGCCCCAATCCCACTTCCCAGAAGTATAACCTGTTAACAATTCTGACTACCCTTGTATGCATGCACACAGGTGCTCTTTCTATAAAAACTACTCTAGAAATAGTACCTAATTTTTTGCAATTTTCATTTTTCGTGCATATTTTTCAGAACAGAACAGTGCATTCAGTTTAATGGCTGTTTACACTTTTCCAATTTATCACAGTGCAATTCATTCAACCATTTCCCTGAACATTATTTGTTTTCTGGTTTTTATTGCTGGAAACAATACTGTGGTGAACATTCTTATATATGTATGTCAGCAGATGTAGACTGAATTCCTGAAAGAAACACTGTTAAGGTTTAAATTTTGTTTGACACTAAGAGACTACTTTCTAAAAAAGGCTGTTATCAATTTATGTGCCCACCAATGCTTATGAGTTTCCTTTTCTTCATATCCTTGCCGACACTAAATAATATGAATCTTTTAAATTTGTGCAAGTCTGACGGGCAAAAATAACAGTACCTTGTTTTACTTTGCATTTCCCAGATTACAAGTGTGGGAAAATTTTGAAAAGCTTCCTCTGTATTTTTATTGACTATTTTTATTTTTATTTCTTTAGTAAATTGACCATGCATGTCCTTTGCACATTTTTCCATTTTTATTTAGATAATATGGATGTTACAGATAGTAATCTTTAGTTATATATATTGTAAACATTTATTTTAATGTGTCTTTGTCTTTCGATCATATACAGTAATTTATTAGCTCAGTGCAGCCATACCTTTGCTGTGTTTTCTGCATTTTAACTTGATTAGAGTTTCATTGCCAAACTAAGATTTTAAAGGTAGTCTACTTACTTCTAATATTTTCAGTTTTATATTTTTGTTTTCAACCCTTTAACATATTTGGAACTTTTTTTTTTGGTATGATGTAAGAAAAGAACTTGATTTTTCCAAAACAGCCACTTAGGCTGATAACATTTGATAATCCATCATTTGCTTATTGATTCAAAATTCTTAATTTTGTTGCACTGATGTATGTCAGCACTAGGTTAAATTTTTTAATTTTAGTTATTTGTAATACTACACTACTGATTTCCATGGCTAAATATCTGTATTTTCATGTACTTAAGTAGGATAAAATCCCCTTCATTAGTATTCTTTTAACATGTACTCAGTTATTCCAAATTAAGTTTAAAATCAACTTCTCGATTTCCCAAGTGGGTCATTAGAGTTTTGATTGGGGTTGTATTGACTTTACAAATTTGGGTGTAAATTGAT
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Task1_train_13683
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Here is a mutation in RAB18 (RAB18, member RAS oncogene family) on Chromosome 10. Determine whether it’s benign or pathogenic. If the latter, what disease does it cause?
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Pathogenic; Warburg micro syndrome 3
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GGAGTCCGAGACCAGCTTGGGCAACATAACGAGACCATGCCTCTAAAAAAATAAAAATAAAAAAATTAGCCGGCCATGGTGATGCACACCTGTCATGCCAGTTACTTGGGGGGCTAAGGTGGGAGGATTAGTGAGCTGTGATTCTGCCACTGCATTCCAGCCTGGGTGACAGAGTGAGACCCTCTCTCTTAAAAAAAAAAAAAAAAAAGTGTGCTTCTTAATTATTTTGAGATTGTCAGTTCTTTTCAAAATCTAATAGAGAAATGGACTCTCTGTCCCTTTCAAAGTCTAATAGAGAAATGGACTCTCTGCCTAGAAAAATGCACACATAGAATTTAGAATACTTTTTGGGCTACCAGGGTACCCCTGTCTAAGATCTGATGTATACCCAGAGCCTGTATTAAAATTTGTTGCTTCACACCATGCCACCAATTCCCTGCCTCTCCTTACAAAGTACTGTTAATAACAAAGGCCATTTAAGGATTAGCAATTATGAGAGAAAAACCTCTGGCTTTGTGTCTGCACATTGCCATATGTTCAATAAATAATACCCAATATCATCATTATTGTATTATTATTATGATATTATTACAACTAGTCTACAAGGTAATCTTATGTTTTTGTAGTAATATTTTCTGTGGTGACCACGTGTAGATATTATGTATCTTTTCTTAAATTATGGGTAACTGAGTATGTTGGGAGAGAAGAAAAATTTTATAGGTAGTCTTTAAGAGTCTTACTAGTATTGTTACCTATGTTCCAAGTAACTAAATATAGTCAAGATGTTAAGTAGATAAATCTAGAATTTGACTCTTCTTTTTTACTTTGATTTTATGATGCTGGTTTTATGGTAAACACAAGAAAACAAAACCAAGTAAGGGAGAGTTAATCGTTCAAATATATTTAATGACACTGGGTTTGGAAACTACCAGGAGGCCATTATGTTTTGCAGAAACTCTATGGACAAAACATACCTCTACCAGCAATAATCACAACCTATAGAAAGAGTCATAAGATTTTTCTATAATTTAGATATCTGATGGCTGTTTCTTTGATTTTATTCATGCAAACAGGTCAATTAGGAGAGTCTTATACTTCAGAAGTTAACATGAGGGAAGATTGAATGACTTTAAAATCAAGGGCTTTAACAAAAGCTTAGATTTTATTTTTGAAGAGTTTCTAATAACTGACACTTCTGCTTCATAGTAAGTAAAATAATTCTGGAAGATGTAAAATCTTAGAGTACCCTTCTAATCTGGTGTCTTTTGCTTTTATCCTTTCTTTCTAGTTTCTTACCATTTCCTAGGTTTAGTCCTTTGTTCTCTCTTGCCATAACCATGGCGGTTGTCTTCCATTGATTTTCTTCCATTTTTTGTTAGTATTAACTTTTCAAAACAAAGAGCAGTACTTGTCTTAACTTTCTTTAAAAGCCTCCAGTAGCCTCCAGTTGCCTACTTGGTTTTACACACTCTACCTAGTGTTTGCCCGAGTCTATCTACTCTGTCCTGTGATCTTTCTTTTAACCTCTCTTTTTACTGTATCTTCTCTTAGGTAGTAGCCGTACTGCGTGTTACAGAATGCTCGGCTTTGATATATTTCTGGTTTTGCTTGAATTCAGAGTGGATTACACAATCAGATTTTTTAAAGCTAGTTTGTTGCATTCTAAGAGACTTTATTTTTTCCCTTTTCATCTATGTCAGTTAAAGCATGACATGCTGCTAATATCATTTTCTCAGAAGGACATACCAGAACAGTTAAAAAACAACTACAACAAAAACCCCCACCTTTTGTACTTGGGGGATTGTGTAGGAGAGCACGGGGAATATATTTCATAGTAAACTACTTTGCTCTTGGGATTTTTAAATTGCCTTTCTGGTAATTTAATTTTTCTGTGTATACCTGCTCTGAGGCAGTATTCCTAGGAACAGGCCTACATCAGTTATTTTTATCTGCATCTAATAATTTGTGACCAAATAATCATGAACACATTTATCATATGATTAGAAAATTCAAGTTCCCAACCTGTCTTTTTAATATCTCTTTCAGCCTGCTCTTGAGGTTCACAGATGATACGTTTGATCCAGAACTTGCAGCAACAATAGGTAAGCCTGTGTTTAAAAATTCTATAGAAATGGCCAGTATTTTCTTGCCTTTGGCCTTTTTAATCTAAATCCTTCTACCTTCCTCTCACCACCCCACTGCCTCCATGTCTGTTGAAATCTTATTTGTCCTTCAAGACTTAATTTTGGTATCATTAAATCTTTGAAGCCTTTCTAGATCTTACCAAGAGAAAATAACTTCCTTATCTGTTGTCTCATGATACTTTATTAAAACTGCTAATGTGATTATCTGTACACACATTTCTCTCCTATACTATGGATTGTCTTTTATTTTGTAATATACAACAGTTATTTGAATACTTATTGTATGCCAGGGACTGCTACTAAGAGGAGGGGTTATAATAGTGAATAACAAACTTGGTCTCTGTCATCGTGGACCTAACAGAGTGTGTTAATTTTGTATGTTCAGCATTTGCTACAGTGTTTGACGTGTATTCTTATCTTCACATATGTATTGATACTAGTTATTAAGGATTGTTAGGAGCAATGATACTTAAATGCCTTTTAAGGATAAGATTTAGATCGCCTGAAAGTGGTTAGTCACACTAACTTATGAGAATATATGAGAAGATAGAGGTAAGTATTTTGGTATCATGTGTTTAGACTGCAGACAACGTAAAGGGATGAAGAGACCACTTGGAATAGTTGAAAGGTAGCTGAGCTGAGTCAGAGCTAGATAATAGTCTTGGTTGACTTTGCCTTGAATTACATGTAATCTTGATGAAGTCACTTAACTTACTAACTTCATCTGTAAATTGGGAGGTTTTGTTAAAATTTCATGATCTGATGAGGAGAATATAGTAAAGATGATCCTAGCATTATTGTTAGGGAAAATAAAGAGTTTCTGTTAACTGGCTTTATTTGTTTTCATTGATTGTATGTCTATTTTTAAAATTTTATTGTGAAACAATTTCAGACTCAAAGATTTGTAAAAATAGCACAAATAATTCTTATGTATCCTATTAAATTACTCCAGATGTTAATGTTTGTCACATTTGCTTTATCATTCTCTCTCTACACACAGTATTCTTTTTTAAAAAAATGAGAGTAGATTGTAGACATGATGTCTTCAACGTCTGCATACTTTAATGTGTATTTCTTAAATGAACATAGATACATTTTATTGTCTATACACAGATTTTATCAGTTGTCCCATTAATGTCCCATATAGCAAAAGACAAATAATTGTTTCGGGTCCAGGATCATACACTGATTTTAGTTATTTCTCTTTAGCCTCTTTTATTTCATTTAATTAATGAATTAATTTATTTTCGAGACAGAGTCTAGCTCTGTCGCTCAGGCTGAGTGCAGTGGCACCAACTCAGCTCAGTGCAACCTCCACTTTTCAGGTTCAAGTGATCCTCCTGCCTCAGCCACCCAAGTAGCTGGGACTACAGGCACATGCCACTGCGCCTGGCTAATTTTTTTTTGTATTTTTGATAGAGACGGGGTTTACCATGTTGGCCAGGCTGGTCTTGAGCTCCTGACCTCAAGTGATCTACCCACCTCGGCCTCCCAAAGTACTGGGATTGCAGGTGTGAGCCACCGCGTCGAGCCTCTTCAGCCTCTTTTAATCAGCAATTCTTCAGTCTTTATTTGCCTTTTCAGGGCCTTGACATTTTTGAAGAGTAAATAATTATTTTGTAGAATGTCTCTCAATTTGTGTATGTCCAGTATGTCCTTAACGGTTAGATTCAGGTTATGCAGTTTTGGCAGCAATTCCACAGAAGTGTTTTTCAGAACATAGTGTCAGTGAAGTTATTATTTTTCCCTTCATAACTAATATATTTCTTGTAGAGAGATACATTGAGACTGTATAGGTATCCTCCTTCTTACACTTTTTGCCCTCCTGTTGTAGCATCCATTGATAATTCTTGCCTGTGACAAGTGATAAGGACAGTATATGATCTTTTCATTCCAACTGTGATGGTTATCAAATGGGGATTTTTTTAAAATGCCATCACTCTGTCTATGTA
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GGAGTCCGAGACCAGCTTGGGCAACATAACGAGACCATGCCTCTAAAAAAATAAAAATAAAAAAATTAGCCGGCCATGGTGATGCACACCTGTCATGCCAGTTACTTGGGGGGCTAAGGTGGGAGGATTAGTGAGCTGTGATTCTGCCACTGCATTCCAGCCTGGGTGACAGAGTGAGACCCTCTCTCTTAAAAAAAAAAAAAAAAAAGTGTGCTTCTTAATTATTTTGAGATTGTCAGTTCTTTTCAAAATCTAATAGAGAAATGGACTCTCTGTCCCTTTCAAAGTCTAATAGAGAAATGGACTCTCTGCCTAGAAAAATGCACACATAGAATTTAGAATACTTTTTGGGCTACCAGGGTACCCCTGTCTAAGATCTGATGTATACCCAGAGCCTGTATTAAAATTTGTTGCTTCACACCATGCCACCAATTCCCTGCCTCTCCTTACAAAGTACTGTTAATAACAAAGGCCATTTAAGGATTAGCAATTATGAGAGAAAAACCTCTGGCTTTGTGTCTGCACATTGCCATATGTTCAATAAATAATACCCAATATCATCATTATTGTATTATTATTATGATATTATTACAACTAGTCTACAAGGTAATCTTATGTTTTTGTAGTAATATTTTCTGTGGTGACCACGTGTAGATATTATGTATCTTTTCTTAAATTATGGGTAACTGAGTATGTTGGGAGAGAAGAAAAATTTTATAGGTAGTCTTTAAGAGTCTTACTAGTATTGTTACCTATGTTCCAAGTAACTAAATATAGTCAAGATGTTAAGTAGATAAATCTAGAATTTGACTCTTCTTTTTTACTTTGATTTTATGATGCTGGTTTTATGGTAAACACAAGAAAACAAAACCAAGTAAGGGAGAGTTAATCGTTCAAATATATTTAATGACACTGGGTTTGGAAACTACCAGGAGGCCATTATGTTTTGCAGAAACTCTATGGACAAAACATACCTCTACCAGCAATAATCACAACCTATAGAAAGAGTCATAAGATTTTTCTATAATTTAGATATCTGATGGCTGTTTCTTTGATTTTATTCATGCAAACAGGTCAATTAGGAGAGTCTTATACTTCAGAAGTTAACATGAGGGAAGATTGAATGACTTTAAAATCAAGGGCTTTAACAAAAGCTTAGATTTTATTTTTGAAGAGTTTCTAATAACTGACACTTCTGCTTCATAGTAAGTAAAATAATTCTGGAAGATGTAAAATCTTAGAGTACCCTTCTAATCTGGTGTCTTTTGCTTTTATCCTTTCTTTCTAGTTTCTTACCATTTCCTAGGTTTAGTCCTTTGTTCTCTCTTGCCATAACCATGGCGGTTGTCTTCCATTGATTTTCTTCCATTTTTTGTTAGTATTAACTTTTCAAAACAAAGAGCAGTACTTGTCTTAACTTTCTTTAAAAGCCTCCAGTAGCCTCCAGTTGCCTACTTGGTTTTACACACTCTACCTAGTGTTTGCCCGAGTCTATCTACTCTGTCCTGTGATCTTTCTTTTAACCTCTCTTTTTACTGTATCTTCTCTTAGGTAGTAGCCGTACTGCGTGTTACAGAATGCTCGGCTTTGATATATTTCTGGTTTTGCTTGAATTCAGAGTGGATTACACAATCAGATTTTTTAAAGCTAGTTTGTTGCATTCTAAGAGACTTTATTTTTTCCCTTTTCATCTATGTCAGTTAAAGCATGACATGCTGCTAATATCATTTTCTCAGAAGGACATACCAGAACAGTTAAAAAACAACTACAACAAAAACCCCCACCTTTTGTACTTGGGGGATTGTGTAGGAGAGCACGGGGAATATATTTCATAGTAAACTACTTTGCTCTTGGGATTTTTAAATTGCCTTTCTGGTAATTTAATTTTTCTGTGTATACCTGCTCTGAGGCAGTATTCCTAGGAACAGGCCTACATCAGTTATTTTTATCTGCATCTAATAATTTGTGACCAAATAATCATGAACACATTTATCATATGATTAGAAAATTCAAGTTCCCAACCTGTCTTTTTAATATCTCTTTCAGCCAGCTCTTGAGGTTCACAGATGATACGTTTGATCCAGAACTTGCAGCAACAATAGGTAAGCCTGTGTTTAAAAATTCTATAGAAATGGCCAGTATTTTCTTGCCTTTGGCCTTTTTAATCTAAATCCTTCTACCTTCCTCTCACCACCCCACTGCCTCCATGTCTGTTGAAATCTTATTTGTCCTTCAAGACTTAATTTTGGTATCATTAAATCTTTGAAGCCTTTCTAGATCTTACCAAGAGAAAATAACTTCCTTATCTGTTGTCTCATGATACTTTATTAAAACTGCTAATGTGATTATCTGTACACACATTTCTCTCCTATACTATGGATTGTCTTTTATTTTGTAATATACAACAGTTATTTGAATACTTATTGTATGCCAGGGACTGCTACTAAGAGGAGGGGTTATAATAGTGAATAACAAACTTGGTCTCTGTCATCGTGGACCTAACAGAGTGTGTTAATTTTGTATGTTCAGCATTTGCTACAGTGTTTGACGTGTATTCTTATCTTCACATATGTATTGATACTAGTTATTAAGGATTGTTAGGAGCAATGATACTTAAATGCCTTTTAAGGATAAGATTTAGATCGCCTGAAAGTGGTTAGTCACACTAACTTATGAGAATATATGAGAAGATAGAGGTAAGTATTTTGGTATCATGTGTTTAGACTGCAGACAACGTAAAGGGATGAAGAGACCACTTGGAATAGTTGAAAGGTAGCTGAGCTGAGTCAGAGCTAGATAATAGTCTTGGTTGACTTTGCCTTGAATTACATGTAATCTTGATGAAGTCACTTAACTTACTAACTTCATCTGTAAATTGGGAGGTTTTGTTAAAATTTCATGATCTGATGAGGAGAATATAGTAAAGATGATCCTAGCATTATTGTTAGGGAAAATAAAGAGTTTCTGTTAACTGGCTTTATTTGTTTTCATTGATTGTATGTCTATTTTTAAAATTTTATTGTGAAACAATTTCAGACTCAAAGATTTGTAAAAATAGCACAAATAATTCTTATGTATCCTATTAAATTACTCCAGATGTTAATGTTTGTCACATTTGCTTTATCATTCTCTCTCTACACACAGTATTCTTTTTTAAAAAAATGAGAGTAGATTGTAGACATGATGTCTTCAACGTCTGCATACTTTAATGTGTATTTCTTAAATGAACATAGATACATTTTATTGTCTATACACAGATTTTATCAGTTGTCCCATTAATGTCCCATATAGCAAAAGACAAATAATTGTTTCGGGTCCAGGATCATACACTGATTTTAGTTATTTCTCTTTAGCCTCTTTTATTTCATTTAATTAATGAATTAATTTATTTTCGAGACAGAGTCTAGCTCTGTCGCTCAGGCTGAGTGCAGTGGCACCAACTCAGCTCAGTGCAACCTCCACTTTTCAGGTTCAAGTGATCCTCCTGCCTCAGCCACCCAAGTAGCTGGGACTACAGGCACATGCCACTGCGCCTGGCTAATTTTTTTTTGTATTTTTGATAGAGACGGGGTTTACCATGTTGGCCAGGCTGGTCTTGAGCTCCTGACCTCAAGTGATCTACCCACCTCGGCCTCCCAAAGTACTGGGATTGCAGGTGTGAGCCACCGCGTCGAGCCTCTTCAGCCTCTTTTAATCAGCAATTCTTCAGTCTTTATTTGCCTTTTCAGGGCCTTGACATTTTTGAAGAGTAAATAATTATTTTGTAGAATGTCTCTCAATTTGTGTATGTCCAGTATGTCCTTAACGGTTAGATTCAGGTTATGCAGTTTTGGCAGCAATTCCACAGAAGTGTTTTTCAGAACATAGTGTCAGTGAAGTTATTATTTTTCCCTTCATAACTAATATATTTCTTGTAGAGAGATACATTGAGACTGTATAGGTATCCTCCTTCTTACACTTTTTGCCCTCCTGTTGTAGCATCCATTGATAATTCTTGCCTGTGACAAGTGATAAGGACAGTATATGATCTTTTCATTCCAACTGTGATGGTTATCAAATGGGGATTTTTTTAAAATGCCATCACTCTGTCTATGTA
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Task1_train_13684
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With a mutation on Chromosome 10 in gene RAB18 (RAB18, member RAS oncogene family), classify this variant as benign or pathogenic. Include the disease if it's pathogenic.
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Pathogenic; Warburg micro syndrome 3
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CATAGTCCAAGGATGGTAGAAAGACAAGAGAGAGAAGGAATTGGGCCCGGAAGTAAAGGCTTGTTAAATAGGTTCATTCTTTTTTTTTTTTCTCAACAAATTCTGAGCAACTGCCTTTTTTCAAGAATTGGTCTCAGCACAATGGTTAAACTGGTGATTAAACAGATGAGTCCCTGCTTTATGAAATTTACATTTTCTACCTAGTGTACATTGTTCACTAACCCTAACATGAGTCAGAAATAACATGTAATAAAGAATGGCTTGGTTATATGCATTTTCTCAAAAGGAGATACATAGAAAACACTTAAAAGAGCCCAACCTAAAAATCTGTTACCTAAAGTAAGACATCCCATAATTTTCTTCAAATCAGTGGTTCTCAGCCTTGATTCTACATTAAAAGCACCTGGTAAGATTTAAAAAAAAAAAAATTCCTGTCATTACCTTAGACCAATTAAGCAGAAATTTTTTGGAAGCTAGACTCAAGATTCCCAGAAAATTTCATTGTGCAGCTGGAGTTTAGAACCATGGGTTTCATTTCATGTATGATAAAAGTCTTAAATTCAAAACAGCAGAAAACCTTTACATAGTTTCATTTTTCTAGAGATCAGTATTTATAAATAATTTTATTTTGTGACACTTGTCAGTAAGCGAACACATCTTATTTAAGTTCCAGTTTTTTAATGAGCTCATGCATTAATACTATTTTTAGTAATGCTGTTTGACTTTCTACTCTTAAACTAGTATATTGAAGGTCTATTTATACTTTGTTTAATTTAATAATAATGATCATTTTTAGGATACTGCTGGTCAAGAGAGGTTTAGAACATTAACTCCCAGCTATTATAGAGGTGCACAGGGTGTTATATTAGGTAAGTGTTTACTTTAATGTACTATTTAAAAATATTTATTGGAGTTTCTGATTGTCCTAGTCTGTGAAAGTTAATATGTCTTTGTTTTACTTCTCGTTAGAGCTACTTTTATGTAACTTGTAGTTGTATTAACTTCATGTAATATTAATGAATATTAAAACTTTTGATTTTAGTCTTGTCTAGCACTTAAAAAATAGACAAGGCTAATTTATTTGGTTTGAAAACACATGTCAATGAGAACGTAATTGAGGATTAATCAGCATATGTTGGACTGTCTTGGAGTATTACAGAAACTGGGCTTCTGTTATCAGCATATTAATATTTGCTGTAGTTTATAAAGGACGAAAAGTATTTGTTGATTAGTAGAATCTGCTTTATTAGTCCTAAAAATATCACAAAGCACTTAACACTATTGATTTATAATCAAACAAAATTTAGAAACCAGATGTGGATTCTCAGTGTAATTTGTTGAAAAGTGCTTGTTCTTGATATTCCTGGGAAACTGTTTAAAATGAATATTGATCAATTGTATTAATAGGTAGAATTCTCTTTTTTTAAATATTATGGCTTGGTAGTGACAGCCTTTTGGTTCAGCATCTCTTGAGTTTATAAAACACTTTAATAAGGTTTTTGTTATAATGCAGAATGACATAAGATGAAAGTGATAACAGGAAGACCACCAGGAACCCATCTACTAACTGTACTACAATTTTTTCAAAGCTGTAAATTTTGGTTCTTGTAATAAACAAATTAATGGGGTCATAGATGTTTACATTCATGTATTTTTTTTTTAATATTTTGCCACAGATTTGAATCTAAACACTCTGGTTTTTGGATAGACCTCATTCATCATTATGAATGGGAATAGCTGTTGTTTTGCTTTAATGGGTATTAAATGTGTTTTCACTTATTACACAGGATATAATTTCATTTCTGTGACAGTATATGTTAATAGGATTGAAATGTGTATGCTTTAAAAAAAAAACACTTGTTTCTTCCATTTGGATCAGTAGACACTCAATATTAATCGTTGAAGACAATAAAAAAAAGACTTGTCTATATTGCTTAGTAATGCTAACTCCTAGCTACATATCAGAAATACGCCATTGCTTCTTTCTTTAATGCTTATTTAACAAATGACTCCTTTTATTTCAGTTTATGATGTCACAAGAAGAGATACATTTGTTAAACTGGATAATTGGTTAAATGAATTGGAAACATACTGTACAAGAAATGACATAGTAAACATGCTAGTTGGAAATAAAATCGATAAGGTAAGAAGGCAGACACTTGGCATTTTGGTTCTATATTTTGGTAGCCTTTCTTAATCATTGCATTTATATTTTAGGAAAATCGTGAAGTCGATAGAAATGAAGGCCTGAAATTTGCACGAAAGCATTCCATGTTATTTATAGGTAGGTGTGTGAATGAATATCTGTCCTTTCATTATTAATGAGGAATTTTTGAATGGAGTTTTTGCCAAGTTTATTTCTTTATGAACCATAAAATGTGTTTAGAGTATTGTTCCTAGTTGCCTTGTGTTACAAAATCTAACTATATAACAAGGTTCTTTATTCTTCTTCCTGTAAAATGTATGATCATATTATGTGAAATCATATTAAAAAACAGTCAAATCATTCCTCACAGGATATAGTGGCATTCAGTAAAGTTTGGCACCCAGTGCTAAAGTTATGCCTTGCTGGTCCATATGCTGATACCATCAGCACCACCTGGGAGCTTGTTAGCAGTGCTTCAGCTCAGGCCCTACCCCAGATTTTCTGAATTAGAATCTGCATTTTAACAAGCTCTTCATATGGTTTGTATGCACATTAATTTTTGAGAAACATGGTCCAGCAAGAGTTGCCAAACTACAGCCTGGTCCAAATCTGGCCCCACCATTTGTATTGGTACACAGCCATGTCCATGTGTTTACATGTTGTCTGTAGCTGCTTTTGTGCCATATGGCAGAGTTTAGTAGTTACAACAGAGGCCATACGGCCCACGAAGCCTAAATATTTTCTATCTGGCCCTTTACAGAAAGAGTTTGCCAACCCCTCATCTAGAAAATTGGATGAGCTATGTCAGAATCACCTGGGCCCTGTGCCTTATTACAGGTTTGAAAGGCAGTTTATTGAAAGCACTCTAGTTGATTCTGATGTGAAGCCAGCTTTAGGAATTACGGATTTAACCATTCCATGGCGTTAGAAGCTACCAGGAATCTGCAAATGAAGTTGAGAGGACTTCATATATAGATAAAAACAGAATGGAATTAGTGGAAAGTATTGAGATTTTCAGAAAGGAATCGAGTACTTTTACTTGCTGTATGTCCCTCATTTCCATACATTAGTTTACCCAATATTTATTGAACACTCAAGATGTAACAGTGGACAAAACTGACAAACTTTCTGCCCACATGGAGCTTACATTCTAGTAAGGGAGACAGACTTAAATAAGTAAGTAGTGCTATGAAGGAAATAAAACATTATAAGGGGAGAGAGAATGACTGGAGTGGGGACTGCTTAGGGAAAGTTCTTAGAGGCTGTCCCATTTGAGCAGAAATCCCTCAGGTGAGGATCTAGAGCAAGCTTGTCCAACTCATGGGCTGCATGTGGCCCAGGATGGCTTTGAATGTGGCCCAACACAAATTTGTAAACTTCCTTAAAACATTATGAGATTTTGTGCTTTTTTTTAAGTTCCAGCTATCATTAGTGTTATTGTATGTTATTTGTGGCCCAAGACTATTCTTCTTCTTCTAATGTGGCCCAGGGAAACCAAAACACTGGACACCCCTAGTCTAGAGGGAGATCATCTCAGGCTGAGAGAGGAGCAAATATTTCCTGAGGTGGGAATCAGGCTACTGTGTTAAAGGAACAGGAAGAAAGCGTGTGTACTGGAGCATAGAGTGTGTTAAGGAGAAGGCAGATGGTGAGAGATGCCATTCAAATGGTAAAGAGATGGATTGTATTCCAATTGTGGTGGAAAGTAGGGAAGCAGCGGTGTGACCTGATACTCTAAAAAGATCCTGTTGTGTAGAAAATGGACTAGGGGAAACAGAAGCAAGAGACTAGTTCTTCTCTTGCAGTGGCCCAGATGAAGGAAGAAGCGGTTTGACTGTGTAGCCGTAGAGGGTGGTAGAAAATTGGCAGTTCTAGGAGATACAGTGAAGGTATAGCTGACAGGATTTGTGGGTGGATTGGGTATGGAGGATAATTAAAAAGAGCAATCAG
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CATAGTCCAAGGATGGTAGAAAGACAAGAGAGAGAAGGAATTGGGCCCGGAAGTAAAGGCTTGTTAAATAGGTTCATTCTTTTTTTTTTTTCTCAACAAATTCTGAGCAACTGCCTTTTTTCAAGAATTGGTCTCAGCACAATGGTTAAACTGGTGATTAAACAGATGAGTCCCTGCTTTATGAAATTTACATTTTCTACCTAGTGTACATTGTTCACTAACCCTAACATGAGTCAGAAATAACATGTAATAAAGAATGGCTTGGTTATATGCATTTTCTCAAAAGGAGATACATAGAAAACACTTAAAAGAGCCCAACCTAAAAATCTGTTACCTAAAGTAAGACATCCCATAATTTTCTTCAAATCAGTGGTTCTCAGCCTTGATTCTACATTAAAAGCACCTGGTAAGATTTAAAAAAAAAAAAATTCCTGTCATTACCTTAGACCAATTAAGCAGAAATTTTTTGGAAGCTAGACTCAAGATTCCCAGAAAATTTCATTGTGCAGCTGGAGTTTAGAACCATGGGTTTCATTTCATGTATGATAAAAGTCTTAAATTCAAAACAGCAGAAAACCTTTACATAGTTTCATTTTTCTAGAGATCAGTATTTATAAATAATTTTATTTTGTGACACTTGTCAGTAAGCGAACACATCTTATTTAAGTTCCAGTTTTTTAATGAGCTCATGCATTAATACTATTTTTAGTAATGCTGTTTGACTTTCTACTCTTAAACTAGTATATTGAAGGTCTATTTATACTTTGTTTAATTTAATAATAATGATCATTTTTAGGATACTGCTGGTCAAGAGAGGTTTAGAACATTAACTCCCAGCTATTATAGAGGTGCACAGGGTGTTATATTAGGTAAGTGTTTACTTTAATGTACTATTTAAAAATATTTATTGGAGTTTCTGATTGTCCTAGTCTGTGAAAGTTAATATGTCTTTGTTTTACTTCTCGTTAGAGCTACTTTTATGTAACTTGTAGTTGTATTAACTTCATGTAATATTAATGAATATTAAAACTTTTGATTTTAGTCTTGTCTAGCACTTAAAAAATAGACAAGGCTAATTTATTTGGTTTGAAAACACATGTCAATGAGAACGTAATTGAGGATTAATCAGCATATGTTGGACTGTCTTGGAGTATTACAGAAACTGGGCTTCTGTTATCAGCATATTAATATTTGCTGTAGTTTATAAAGGACGAAAAGTATTTGTTGATTAGTAGAATCTGCTTTATTAGTCCTAAAAATATCACAAAGCACTTAACACTATTGATTTATAATCAAACAAAATTTAGAAACCAGATGTGGATTCTCAGTGTAATTTGTTGAAAAGTGCTTGTTCTTGATATTCCTGGGAAACTGTTTAAAATGAATATTGATCAATTGTATTAATAGGTAGAATTCTCTTTTTTTAAATATTATGGCTTGGTAGTGACAGCCTTTTGGTTCAGCATCTCTTGAGTTTATAAAACACTTTAATAAGGTTTTTGTTATAATGCAGAATGACATAAGATGAAAGTGATAACAGGAAGACCACCAGGAACCCATCTACTAACTGTACTACAATTTTTTCAAAGCTGTAAATTTTGGTTCTTGTAATAAACAAATTAATGGGGTCATAGATGTTTACATTCATGTATTTTTTTTTTAATATTTTGCCACAGATTTGAATCTAAACACTCTGGTTTTTGGATAGACCTCATTCATCATTATGAATGGGAATAGCTGTTGTTTTGCTTTAATGGGTATTAAATGTGTTTTCACTTATTACACAGGATATAATTTCATTTCTGTGACAGTATATGTTAATAGGATTGAAATGTGTATGCTTTAAAAAAAAAACACTTGTTTCTTCCATTTGGATCAGTAGACACTCAATATTAATCGTTGAAGACAATAAAAAAAAGACTTGTCTATATTGCTTAGTAATGCTAACTCCTAGCTACATATCAGAAATACGCCATTGCTTCTTTCTTTAATGCTTATTTAACAAATGACTCCTTTTATTTCAGTTTATGATGTCACAAGAAGAGATAGATTTGTTAAACTGGATAATTGGTTAAATGAATTGGAAACATACTGTACAAGAAATGACATAGTAAACATGCTAGTTGGAAATAAAATCGATAAGGTAAGAAGGCAGACACTTGGCATTTTGGTTCTATATTTTGGTAGCCTTTCTTAATCATTGCATTTATATTTTAGGAAAATCGTGAAGTCGATAGAAATGAAGGCCTGAAATTTGCACGAAAGCATTCCATGTTATTTATAGGTAGGTGTGTGAATGAATATCTGTCCTTTCATTATTAATGAGGAATTTTTGAATGGAGTTTTTGCCAAGTTTATTTCTTTATGAACCATAAAATGTGTTTAGAGTATTGTTCCTAGTTGCCTTGTGTTACAAAATCTAACTATATAACAAGGTTCTTTATTCTTCTTCCTGTAAAATGTATGATCATATTATGTGAAATCATATTAAAAAACAGTCAAATCATTCCTCACAGGATATAGTGGCATTCAGTAAAGTTTGGCACCCAGTGCTAAAGTTATGCCTTGCTGGTCCATATGCTGATACCATCAGCACCACCTGGGAGCTTGTTAGCAGTGCTTCAGCTCAGGCCCTACCCCAGATTTTCTGAATTAGAATCTGCATTTTAACAAGCTCTTCATATGGTTTGTATGCACATTAATTTTTGAGAAACATGGTCCAGCAAGAGTTGCCAAACTACAGCCTGGTCCAAATCTGGCCCCACCATTTGTATTGGTACACAGCCATGTCCATGTGTTTACATGTTGTCTGTAGCTGCTTTTGTGCCATATGGCAGAGTTTAGTAGTTACAACAGAGGCCATACGGCCCACGAAGCCTAAATATTTTCTATCTGGCCCTTTACAGAAAGAGTTTGCCAACCCCTCATCTAGAAAATTGGATGAGCTATGTCAGAATCACCTGGGCCCTGTGCCTTATTACAGGTTTGAAAGGCAGTTTATTGAAAGCACTCTAGTTGATTCTGATGTGAAGCCAGCTTTAGGAATTACGGATTTAACCATTCCATGGCGTTAGAAGCTACCAGGAATCTGCAAATGAAGTTGAGAGGACTTCATATATAGATAAAAACAGAATGGAATTAGTGGAAAGTATTGAGATTTTCAGAAAGGAATCGAGTACTTTTACTTGCTGTATGTCCCTCATTTCCATACATTAGTTTACCCAATATTTATTGAACACTCAAGATGTAACAGTGGACAAAACTGACAAACTTTCTGCCCACATGGAGCTTACATTCTAGTAAGGGAGACAGACTTAAATAAGTAAGTAGTGCTATGAAGGAAATAAAACATTATAAGGGGAGAGAGAATGACTGGAGTGGGGACTGCTTAGGGAAAGTTCTTAGAGGCTGTCCCATTTGAGCAGAAATCCCTCAGGTGAGGATCTAGAGCAAGCTTGTCCAACTCATGGGCTGCATGTGGCCCAGGATGGCTTTGAATGTGGCCCAACACAAATTTGTAAACTTCCTTAAAACATTATGAGATTTTGTGCTTTTTTTTAAGTTCCAGCTATCATTAGTGTTATTGTATGTTATTTGTGGCCCAAGACTATTCTTCTTCTTCTAATGTGGCCCAGGGAAACCAAAACACTGGACACCCCTAGTCTAGAGGGAGATCATCTCAGGCTGAGAGAGGAGCAAATATTTCCTGAGGTGGGAATCAGGCTACTGTGTTAAAGGAACAGGAAGAAAGCGTGTGTACTGGAGCATAGAGTGTGTTAAGGAGAAGGCAGATGGTGAGAGATGCCATTCAAATGGTAAAGAGATGGATTGTATTCCAATTGTGGTGGAAAGTAGGGAAGCAGCGGTGTGACCTGATACTCTAAAAAGATCCTGTTGTGTAGAAAATGGACTAGGGGAAACAGAAGCAAGAGACTAGTTCTTCTCTTGCAGTGGCCCAGATGAAGGAAGAAGCGGTTTGACTGTGTAGCCGTAGAGGGTGGTAGAAAATTGGCAGTTCTAGGAGATACAGTGAAGGTATAGCTGACAGGATTTGTGGGTGGATTGGGTATGGAGGATAATTAAAAAGAGCAATCAG
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Task1_train_13685
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A mutation found in WAC (WW domain containing adaptor with coiled-coil) on Chromosome 10 may be clinically relevant. Is it pathogenic or benign, and if the former, which disease is implicated?
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Pathogenic; DeSanto-Shinawi syndrome due to WAC point mutation
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GGCCGGGCGGCGGCGGGGGGCGGCGGCGGGGGGGCTGTTCCTCCTTATCTGGAGCTGGCCGGGCCGCCATTTTTGTTGTTAACCCTGATCCGGATCGGGTTGGGGAGGAGGAGCGGCCGCGCGGGCGGGCGGGCGGGAACGCAGTGTGGCGGGGAGCGGGGGCCCGGCTTCGCGGCATTTCGCCCTCTCCGGCCCTTCCGGAGGCTCCGGGTTTGTGCCGTGTGCGTGCGGGGCTCGGCGCTGGGGCGCTCGGTAGGTCTCCCGCGGGGAGGGGCGGCGGGGGCCCCGTTTTCTTCCTCCCCGGCCCCCCACCCGCGCCGTGTCTTATGTCGCTGCCTTCTCTTCCTGTTTTTCAGCTGTCACGACCGGAGGGGGGACTCGCAGCCTTACCAGGTACCAGCCGAGGCCGGGGTGGAGGGATTGGAAGGGGCCGGAGGGGGAAGGGAGGGACTGCTACTCGAGCGCAGGCCTCAGAAGTCGATACAGGCCCTTCGGTGCAACACATCTGAAACTAGCACCGCGGATCCCCTTAAAATTCCAGGTTTGGTTCCTTTAGCGCTCTCCAGCAAGGTTTAGTGACTTATTTTGACAGGTGACTGGAGGGAGTTCGCTGATTTAGGAAAAAAGAATCATTTGCAGCCAGAAAGACCTGACTCGATTATTTGATTATTTGCGAGTGAAGGAATCGATGGGATGAGATGATAGGTGACTTACGAGGCTTATTTATTTATTTATTGTGTTGGGGGAACTGAAAAGTTAATGTAAAGGTATTAAAATTAAGTGAAGAACTTGGGTAAATAGCTAAATGACTTACAACTTTCAAGTCGGTTATAAAGTACTACCCTTTCCCCTTTTAATATTTTTGGTATACTTAATTGCCTTACAAGTAAAAGATATGTGTGCTTTTGTTTCTGTAAGAATTGAGGTCTTTGGGTACTTGGATAATCATTCTGATGTAGGTGGTTCTAGGTAGGTGGGTTCCTTTTTGTTACTGCAGTCATTGTGTGTGAAGTTCTAAGGATTATGATGAAAGTGGCCCCAATTTTCAGGAGGGAAACCTCATAATGATTGTTAACCATCAGATGACTGCAGAAAACACTTTCTACATCTTAAAGGACTAGAGAGCAGGTTTCTAACCTGATGGTTGTGTTATACAGCTGAATTTGAAAACACTGTCTTCTGATATGTAAAACATTGGATATGTCAAAAATTAAACTTTACTGAATCTGTCCTCCAAAGCATAGCTGATTACACATTGCAACAGATTAGTACATCATGATTGTCTTAAGATATGTGTTAGAATAAAGCTAAACGATTATTTTGAGCGCATTATGCTTAGTTAGAAATAGTACTCACATTAGTTTATTTTGGTTAGTATTTTTATACCTTAAAATTGTTTCCCACACCTGGGAGAGTAAGGAAGTTAGGTCTGAAATGCTTTATTTGAATCAAAGAATTGGAGAAACTGGTGTGTGGGTTTTTTTTTTTTTTTTTGGTAGGTTTGCAAAAATATGCATGTGCTTATTTATACATGTGTTTGTGTATATCAGCTGTAGAGCAGAAATTGATTATAGTAGTACTGAATTTCTAGTTTTCTTTTGACTATCAAAAAATGATTCTAAATATTCTCAGCCAAATTTTTTTATTTTTTGCAGAATCAGTGTGCAAGGTGGTTTATAAGATAATGGAGTGGGTTTTTTTTGTGTTTAGTGTGATTTGTTATCAGGAGTCTTATTGTAACGCTTAAGCATTAGGTTTTTTGTCTGAGAAACTTTAAAGAGTAAAGCAGAATTGAAAGTGGAAATTTTAATTTTGTAAGTTCATAAAATTTAATGATAATACACCAAAGTTTATGTTTAAATTAGGGAGTTTAAGGTTTCAATTCTTTCTCTCTTTTTTTGGGGGGGTGATGTTTTACAGGCACTTAAGTATTCATCGAAGAGTCACCCCAGTAGCGGTGATCACAGACATGAAAAGATGCGAGACGCCGGAGATCCTTCACCACCAAATAAAATGTTGCGGAGATCTGATAGTCCTGAAAACAAATACAGTGACAGCACAGGTCACAGTAAGGCCAAAAATGTGCATACTCACAGAGTTAGAGAGAGGGATGGTGGTGAGTATCTTTCTTGTTGAAACTTTGACATACAGTTTTAACAATAGCTCTATATAAAAGGCGGCAGTAGTATTTCTAGCTTGAAGAAGTTACTGTTCAGTTATGTCATTAAAATATTTTAATCCTATCATTTTTTTTTTACTCTGAACAAGTTACTGTAGAAACAAGATGCTGATGTGAGCATCTAAAAAGTGGACTCTTAAGGCCAGGCGCGGTGGCTCACGCCTGTAATCTCAGCACTTGGGAGGCCGAGGCGGGCAGATCACCTGAGGTCAGGAGTTCAAGACCAGCCTGGCCAGCAGGTGAAAACCCATCTCTACTAAAAATACAAAAGTTAGTTGGGCATGGTGGTGGTGGCAGGCGCCTGTAGTGCCAGCTCTTCAGGAAGCTAAGGTAGGAGAATCACTTGAACCTGGTTGGTGGAGGTTGCAGTCAGCCTGAGATGGTGCCACTGCACTCCAGCCTGGGTGCTAGAGTGAGACTCCATTAAAAAAAAAAAAAAAGCGGACTTTAGTGTTTAATAATAAGGGAATGCATTTATGAATATAGTTTAAAACATGCTTTCTTAAGGATGGGAAAAATGCAGGACTTTTTTCCAAGAAAGGAACTTTGACCTTTTAAAGATTTCAGTTTGAGATCCTTATTGTTGCTTCAGTTTGTTACTTTTTAAGGTGTTCAAATCTGTTTTCTAATTACAATGATAAACTATGAATTTAAAAACTCATTATGTTTTTTCAGGATAGTTCCCAGATTTAAAAAATTATTTATGACTTAGAAAATACATTCTTGCTTTTTGTTGTAAACATTTTCAGTATTCTCCAGTTTTGGTGATGTGATTTTTATACCTGGTTCATTGAAATATTCTTTTTAAAAGTTAGTCTGATTTCTTTTGCACAGTCCTGTACCTTCAATTATAAGTTTGCCTCAAGCTCTTTGTGGTAGGAGTCTGAGAATAAGTAAACAAAACCAATTCTCAGTAACTATTTTCAGACTTAATTTGCCCGAATTACATTTCATGTCAAAAGCATGCATTAAGGAACAAAGCAATTTCAGTAAAGACACCTATATTCTCTCCTACATGTTGCTTAAGTAGATAACATATCTTAAGCAGATTTACAATATTAAAAGCTTCCAAGGAAACTCAGTAAAGTACCATGTGACTTTTTGCCCCTATTGGCAGCTAGTTCTTCAATACTTGGCTTACTTTAAAAAAAATACCTTGCATCTTGCCCCTTTTGTCCACCTAGGATAGAAATCAGCTTTATTCAGTGTGATCATATACTGAGAAACATTGGCTTCCTCTACATAATTACTGGTTTGAGAAAATACAGTCAGAAGATTGCACTGGGATTGAATAATTTGGATGAGAAGAAAGTAGTTCTCTATTGAATGTAGTTATAGCTTAGTGCTATTTATGCAGATAAACCACATTTTTGTAACAGTAGTAGCAGGTGTATTTGATTATTAAAGTGTTACAAGTTATTGGGTTGCAAAATTAAGCTTTTAGAGTTATCAGTTTTGTGGGTAAGTTTTCCATAGTATTATGTAAAGCCTGAGATGGTACTCTCTATCAACCACTCTTCTATAGTGGATTTCATTTCTAATGTTAGCTCTTGGAGAGCAGGTACTGGTTGTACTATACTGTATTTATTTTGAAAAATTTGGTGATTGTAACAAAATAGGATATGGCACCTCATCTTCTTACAAATAGGCTCTTATTTTAGTGACTATGATCCAGTTTATCCCCAAATGCAAGAAGTCAGTTTTTCAGTTATAAATGCTTTCAATCATTTCCAGCAAACCTTGCTCAGCCAATTCTTTTACAGGTGAAGTAATCCCAAGAACATTCTGTTGCTTATTCATTCAACAAACCTGGGGCATCTACTGTGTGCCAACATTTGTGTGATACTCCTGGGAGTCAAGATGTGATCCTGGCCTTGAAGCTATTCTTAAATGCTTTGACTCTTGAGAGCTAGTGGT
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GGCCGGGCGGCGGCGGGGGGCGGCGGCGGGGGGGCTGTTCCTCCTTATCTGGAGCTGGCCGGGCCGCCATTTTTGTTGTTAACCCTGATCCGGATCGGGTTGGGGAGGAGGAGCGGCCGCGCGGGCGGGCGGGCGGGAACGCAGTGTGGCGGGGAGCGGGGGCCCGGCTTCGCGGCATTTCGCCCTCTCCGGCCCTTCCGGAGGCTCCGGGTTTGTGCCGTGTGCGTGCGGGGCTCGGCGCTGGGGCGCTCGGTAGGTCTCCCGCGGGGAGGGGCGGCGGGGGCCCCGTTTTCTTCCTCCCCGGCCCCCCACCCGCGCCGTGTCTTATGTCGCTGCCTTCTCTTCCTGTTTTTCAGCTGTCACGACCGGAGGGGGGACTCGCAGCCTTACCAGGTACCAGCCGAGGCCGGGGTGGAGGGATTGGAAGGGGCCGGAGGGGGAAGGGAGGGACTGCTACTCGAGCGCAGGCCTCAGAAGTCGATACAGGCCCTTCGGTGCAACACATCTGAAACTAGCACCGCGGATCCCCTTAAAATTCCAGGTTTGGTTCCTTTAGCGCTCTCCAGCAAGGTTTAGTGACTTATTTTGACAGGTGACTGGAGGGAGTTCGCTGATTTAGGAAAAAAGAATCATTTGCAGCCAGAAAGACCTGACTCGATTATTTGATTATTTGCGAGTGAAGGAATCGATGGGATGAGATGATAGGTGACTTACGAGGCTTATTTATTTATTTATTGTGTTGGGGGAACTGAAAAGTTAATGTAAAGGTATTAAAATTAAGTGAAGAACTTGGGTAAATAGCTAAATGACTTACAACTTTCAAGTCGGTTATAAAGTACTACCCTTTCCCCTTTTAATATTTTTGGTATACTTAATTGCCTTACAAGTAAAAGATATGTGTGCTTTTGTTTCTGTAAGAATTGAGGTCTTTGGGTACTTGGATAATCATTCTGATGTAGGTGGTTCTAGGTAGGTGGGTTCCTTTTTGTTACTGCAGTCATTGTGTGTGAAGTTCTAAGGATTATGATGAAAGTGGCCCCAATTTTCAGGAGGGAAACCTCATAATGATTGTTAACCATCAGATGACTGCAGAAAACACTTTCTACATCTTAAAGGACTAGAGAGCAGGTTTCTAACCTGATGGTTGTGTTATACAGCTGAATTTGAAAACACTGTCTTCTGATATGTAAAACATTGGATATGTCAAAAATTAAACTTTACTGAATCTGTCCTCCAAAGCATAGCTGATTACACATTGCAACAGATTAGTACATCATGATTGTCTTAAGATATGTGTTAGAATAAAGCTAAACGATTATTTTGAGCGCATTATGCTTAGTTAGAAATAGTACTCACATTAGTTTATTTTGGTTAGTATTTTTATACCTTAAAATTGTTTCCCACACCTGGGAGAGTAAGGAAGTTAGGTCTGAAATGCTTTATTTGAATCAAAGAATTGGAGAAACTGGTGTGTGGGTTTTTTTTTTTTTTTTTGGTAGGTTTGCAAAAATATGCATGTGCTTATTTATACATGTGTTTGTGTATATCAGCTGTAGAGCAGAAATTGATTATAGTAGTACTGAATTTCTAGTTTTCTTTTGACTATCAAAAAATGATTCTAAATATTCTCAGCCAAATTTTTTTATTTTTTGCAGAATCAGTGTGCAAGGTGGTTTATAAGATAATGGAGTGGGTTTTTTTTGTGTTTAGTGTGATTTGTTATCAGGAGTCTTATTGTAACGCTTAAGCATTAGGTTTTTTGTCTGAGAAACTTTAAAGAGTAAAGCAGAATTGAAAGTGGAAATTTTAATTTTGTAAGTTCATAAAATTTAATGATAATACACCAAAGTTTATGTTTAAATTAGGGAGTTTAAGGTTTCAATTCTTTCTCTCTTTTTTTGGGGGGGTGATGTTTTACAGGCACTTAAGTATTCATCGAAGAGTCACCCCAGTAGCGGTGATCACAGACATGAAAAGATGCGAGACGCCGGAGATCCTTCACCACCAAATAAAATGTTGCGGAGATCTGATAGTCCTGAAAACAAATAAAGTGACAGCACAGGTCACAGTAAGGCCAAAAATGTGCATACTCACAGAGTTAGAGAGAGGGATGGTGGTGAGTATCTTTCTTGTTGAAACTTTGACATACAGTTTTAACAATAGCTCTATATAAAAGGCGGCAGTAGTATTTCTAGCTTGAAGAAGTTACTGTTCAGTTATGTCATTAAAATATTTTAATCCTATCATTTTTTTTTTACTCTGAACAAGTTACTGTAGAAACAAGATGCTGATGTGAGCATCTAAAAAGTGGACTCTTAAGGCCAGGCGCGGTGGCTCACGCCTGTAATCTCAGCACTTGGGAGGCCGAGGCGGGCAGATCACCTGAGGTCAGGAGTTCAAGACCAGCCTGGCCAGCAGGTGAAAACCCATCTCTACTAAAAATACAAAAGTTAGTTGGGCATGGTGGTGGTGGCAGGCGCCTGTAGTGCCAGCTCTTCAGGAAGCTAAGGTAGGAGAATCACTTGAACCTGGTTGGTGGAGGTTGCAGTCAGCCTGAGATGGTGCCACTGCACTCCAGCCTGGGTGCTAGAGTGAGACTCCATTAAAAAAAAAAAAAAAGCGGACTTTAGTGTTTAATAATAAGGGAATGCATTTATGAATATAGTTTAAAACATGCTTTCTTAAGGATGGGAAAAATGCAGGACTTTTTTCCAAGAAAGGAACTTTGACCTTTTAAAGATTTCAGTTTGAGATCCTTATTGTTGCTTCAGTTTGTTACTTTTTAAGGTGTTCAAATCTGTTTTCTAATTACAATGATAAACTATGAATTTAAAAACTCATTATGTTTTTTCAGGATAGTTCCCAGATTTAAAAAATTATTTATGACTTAGAAAATACATTCTTGCTTTTTGTTGTAAACATTTTCAGTATTCTCCAGTTTTGGTGATGTGATTTTTATACCTGGTTCATTGAAATATTCTTTTTAAAAGTTAGTCTGATTTCTTTTGCACAGTCCTGTACCTTCAATTATAAGTTTGCCTCAAGCTCTTTGTGGTAGGAGTCTGAGAATAAGTAAACAAAACCAATTCTCAGTAACTATTTTCAGACTTAATTTGCCCGAATTACATTTCATGTCAAAAGCATGCATTAAGGAACAAAGCAATTTCAGTAAAGACACCTATATTCTCTCCTACATGTTGCTTAAGTAGATAACATATCTTAAGCAGATTTACAATATTAAAAGCTTCCAAGGAAACTCAGTAAAGTACCATGTGACTTTTTGCCCCTATTGGCAGCTAGTTCTTCAATACTTGGCTTACTTTAAAAAAAATACCTTGCATCTTGCCCCTTTTGTCCACCTAGGATAGAAATCAGCTTTATTCAGTGTGATCATATACTGAGAAACATTGGCTTCCTCTACATAATTACTGGTTTGAGAAAATACAGTCAGAAGATTGCACTGGGATTGAATAATTTGGATGAGAAGAAAGTAGTTCTCTATTGAATGTAGTTATAGCTTAGTGCTATTTATGCAGATAAACCACATTTTTGTAACAGTAGTAGCAGGTGTATTTGATTATTAAAGTGTTACAAGTTATTGGGTTGCAAAATTAAGCTTTTAGAGTTATCAGTTTTGTGGGTAAGTTTTCCATAGTATTATGTAAAGCCTGAGATGGTACTCTCTATCAACCACTCTTCTATAGTGGATTTCATTTCTAATGTTAGCTCTTGGAGAGCAGGTACTGGTTGTACTATACTGTATTTATTTTGAAAAATTTGGTGATTGTAACAAAATAGGATATGGCACCTCATCTTCTTACAAATAGGCTCTTATTTTAGTGACTATGATCCAGTTTATCCCCAAATGCAAGAAGTCAGTTTTTCAGTTATAAATGCTTTCAATCATTTCCAGCAAACCTTGCTCAGCCAATTCTTTTACAGGTGAAGTAATCCCAAGAACATTCTGTTGCTTATTCATTCAACAAACCTGGGGCATCTACTGTGTGCCAACATTTGTGTGATACTCCTGGGAGTCAAGATGTGATCCTGGCCTTGAAGCTATTCTTAAATGCTTTGACTCTTGAGAGCTAGTGGT
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Task1_train_13686
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Consider a variant on Chromosome 10 in gene MTPAP (mitochondrial poly(A) polymerase). Determine its clinical classification and disease relevance.
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Pathogenic; not provided
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TGGCTCACGCCTGTAATTCCAACACTTTGGAAGGCCAAGGTGGGCGATCACCTGAGGTCAGGAGTTCGAGATCAGCCTGGCCAACATGGTGAAACCCTGTCCCTACTAAAACTACAAAAATTAGCTGGGCTTGGTGGTGGGCGCCTGTAATCCCAGCTGAGGCAGGAGAATCACTTGAATCCGGGAGGCGGAGGTTGCAGTGAGCTGAGATTGTGCCATTGCACCCCAGCCTGGGCAACAAGAGCAAAACTCCGTCTCAGAAACAAAACGAAACAAAGCAAAAAAGTTGCTCCACAGAGAATGTAATGGAAATTAAATTTCAATATACAGTTGCCCATTGAACAACATGGGTTTCAACTGCGAAGTCCATTTACACACAGATTTTTTCCAACCAAACTTGGATTGAAAATACAGTATTCTCGGCCAGGCATGGTGGCTCACGCTTGTAATCCCAGCACTTTGGGAGGTTGAGGTGGGCTGATCACGAGGTCGGGAGATCGAGACCATGGTGAAACCCTGTCTCTACTAAAAATACAAAAAAATTGTCCGGGCGTGGTGGCGGGCACCTATAGTCCCAGCTACTCAGAGAGGCTGAGGCAGGAGAATGGCGTGAACCTGGGAGGCAGAGCTTGCAGTGAGCCGAGATTGCGCCACTGCACTCTAGCCTGGGCGACAGAGCGAGACTCTGTCTCAAAAAAAAAAAAAAAAAAAAAAGAAAGAAAGAAAATACAGTACTTTCACAGGATGCAAAATCTGCTTATGTGCAAGGTGGAATTCTCCCATGCACGGGCTCCACAGGACTGAAGGAGTTCAGTGTGTGCAGATCTGGGTGTACGTGGATGGTCCTGGAACCAATTTTCTGCATATACTGAGAGACAAATATGTCTCTTTCCTGCAGGAAGAGGGGAGTTCTCAAAAGAGATGTGAAGGAATACTGGGAATATCACATTTTAGTTAGAAACAGAATTTTATTTTTGAAAATAGAAAAATCAAACAATATTTTTAAAATGCAATCTATTGATGTCATCATATTTGGTTTGGAATACCTAAGAATGCAGTGACTGAAATGTCTGTTCTAAAAACATAAACATTTTTTGATATCAGTACCAACCCACTTTAATTTATATGTGAATAAGAGAACTTCGCTTGAAAAATACAAATATACATATTCGAGAGCACTACCAAATTTTGAAGCTTAATGTATTCATTGCCAACGTACTGTACATAACTAAAAGTCATTTTAAATGTTTTCTAAACAGGGACTGATGTGGATATCAACAATGGTTTCATCCTAAAACTGAGTTTTAGCATTTGTTTAGTATATTTACCTATTTAGTTAAAGCACATTACAATAATCTTTCACCCATTCCTTGTGGCTTATGTTTATTTTCATTTTTTTTAGAGATGGAATCTTGCTATGTTGTCCACGATGGATTCAAAATCCTGGGCTCAAGAGATCCTCCTGCCTCAGCCTCCTGAGCAGCTGGGACTACAGGTGTGCACCGCCACACTCCACAGCTGATGTTTTAATAAAGTGCCACTGAGTATCAGACTGATCAAACTGAAAACATCCCAGAACTTCAGACCAGGTTAAGGGGGCCAATGAGAAGATCATGAAAAGTGACATCAGATGAAAGCTGAGATCTGTGAAAGTTTCAAATCAGTTTTTCCAAGTAAGTCCACAGACCATTTGATAGGCTAAGCCCAGTTCTTTACACAATGTAGCAGCCATCATGTCTGAGTACTAATTGTTCTCTTCCCACTGGTTTTTGTGAAATTTTCTGTTCTGTTACCTTTTAAAGATTCTAGCAAGTTTTTGACTGTTTCAATTGCAAACTTATTGCTTTTCTTCTTGGTAAAGGACTTTCTGTTTGGAGCAGATGGTAGCAATAGGGATACCAGCCCCCAGGGCCGATTACTTGATATGGAAGGTCGATCTGTATCTTCCTGTTGTAAAATCCAGGCACTTTCTCGGGCCAAATCTACAAATTTTTGCAGCTGGCTTTGACTTACATTTTTGCTTATGTTGAGAGAAGTTTCAAATGGATTCTGAATGTACAGAGGAGAAGAATCAGGTTTGTTTTGCTCCCTTCCCTATAGATTATTACACAGAAGAAAAAATGAGTAAGTACATGAAGGGCTTAAATATAAAAACAGTTAACTCAATAAAATGTCAAAACACATAAAACACCAGCATTAACTTTACATAGCAAAGAATTTCTTTCTCAGGGGATTGAGTATGTATGCATGGTGGGTGTGTGTACTTCTCATTTTTTGTTTTTTTTTTCCCTGTTGTAAGTTTTATGAGTGTTCTTTGGAGAAATAACTTAGGGCTTATCATCTATGGATGATGATGTCATTGCTCAGAGAAGAGGTATCTGGACTAACTCAACCGACAAAAGTATTTTTAAAATAATATAACTTTTACCTAACAAGGTAGAGCATGAAAGGGAAAAAAATGATTAAAAAATCAGAAAGTAAGATGAAGATACGTTTATTTCTGAGACTTGCTAAAAGCATACCTATTATGGTAGAAACAGGAACACACAAAATTAGAACCCTTAAATTAAATATATTAATTAATGTTTCCCAAGTATGAGATGAGGAAAAAGAGGAGGAACAAAGGATTATTCATTATTTATTTAAAACACTAAAAAGTTTCCATTATCTTCCTATAGATCCAACAAAAGGGCTCTGCCACATAAGATAGTATCTCACAGAAATAAAAAAGATAACTGTAATCCAAGCATTTTGGGAGGCCGAGGCAGGTGGAACACCTGAGGTCAGGAGTTCAAGACAGGCCTGACCAACATGGTGAAATCCCATCTCTACTAAAAATACAAAACTAGCCAGGTGTTGTGGCGCATGCCTGTAATCCCAGCTACTTAGGAGGCTGAGGCAGGAGAATCACTTGAACCCAGGAGGCGGAGGCTGCAGTGAGCCAAGATCATGCCACTGCACTCCAGCCTGGGCAATACAGTGAGACTCTGTCTCAAAAAACAAAAACAAAAAAAAAAAAAAAAAAAAAGAAGAGAAAAGAAAAAGAAAAGCTAAAGCTATGAATCATATGACTAACATAAGCCATTAGTCTATATATCTTTTCCTCTTTCAAATGATACCATAAATTTACTTAATTAACTATTACAAAGCCAATGGTCAAAATTCCCTGATGTGAGCAGCAGCTGTTATATTCCCTAACTTATTTCATGCTTGGCATCTCTGAGCTTTGGAGTACAAAAAAGGTGACGAACTTTGTATGCTTATGACTTTTTCCTTCTAGATAGCATTTGCAAAGCTTTCCGAATGAATCCTTTCTCTCTCCTCTCCCCAATCTTTTATTTTAACAAAGAGTCCATGAGCAGGTAAGAGGGAAGGATGAAAAACGGAGAGGTGAAGAAATAAGGAGAAAGTATATCTGGGTTTGTGTTTTATGAAGCCAATCTTGTAAGGTTTGTAATCAAGTAGCCAAATGCTAAACAGAATAAACCCAAACAGAGGGCTATCCCAAGTTATCTCCCACTTGCAAACAAATTTTGTCTAGACTTCTGCCTGAGTTTCTTTTTGAAAAGAAAAAATGTCTTTCATCCCAGCTGCTCAGAAATCCAAATCGTAAGTTCATTTGCTCAAAAAAAAAAAACAAAACAAAACAAAACAAAACAAAAAAACACCTAAATCCTAAGGGCTCAAATTGAGGGAATCACTGAAATCTATCTTTGGGACTTAAGTTTATTCCATAGACACAAATCCAGTTTAAAAACAGCTGTATGTAAATAATAGTTTTCAGGAAACTTTCTGGAATGTATTCCACATCATGAGGGATACAGTATTACACTAAGTGAGGACAGAAGTCCCATGGCATAATAACAAGGCAGATGCTAAAGAGCTGGCTTTTACTATTTGGCATAAAGGGATGACTGATCTTAGTCAAGTCATGTAACTTCTCTGGACATCAACCTCCTTGTTACTACAAATTACTACACAAAAGAAATAAATAACATTTATTAGAGTGTTTTGAAAACAGTTAATTAAATATTAGTACAGTGGAAGACCAGATACTAATAACTAAATAGTAAAACATTATTTACCTGTCGAATAT
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TGGCTCACGCCTGTAATTCCAACACTTTGGAAGGCCAAGGTGGGCGATCACCTGAGGTCAGGAGTTCGAGATCAGCCTGGCCAACATGGTGAAACCCTGTCCCTACTAAAACTACAAAAATTAGCTGGGCTTGGTGGTGGGCGCCTGTAATCCCAGCTGAGGCAGGAGAATCACTTGAATCCGGGAGGCGGAGGTTGCAGTGAGCTGAGATTGTGCCATTGCACCCCAGCCTGGGCAACAAGAGCAAAACTCCGTCTCAGAAACAAAACGAAACAAAGCAAAAAAGTTGCTCCACAGAGAATGTAATGGAAATTAAATTTCAATATACAGTTGCCCATTGAACAACATGGGTTTCAACTGCGAAGTCCATTTACACACAGATTTTTTCCAACCAAACTTGGATTGAAAATACAGTATTCTCGGCCAGGCATGGTGGCTCACGCTTGTAATCCCAGCACTTTGGGAGGTTGAGGTGGGCTGATCACGAGGTCGGGAGATCGAGACCATGGTGAAACCCTGTCTCTACTAAAAATACAAAAAAATTGTCCGGGCGTGGTGGCGGGCACCTATAGTCCCAGCTACTCAGAGAGGCTGAGGCAGGAGAATGGCGTGAACCTGGGAGGCAGAGCTTGCAGTGAGCCGAGATTGCGCCACTGCACTCTAGCCTGGGCGACAGAGCGAGACTCTGTCTCAAAAAAAAAAAAAAAAAAAAAAGAAAGAAAGAAAATACAGTACTTTCACAGGATGCAAAATCTGCTTATGTGCAAGGTGGAATTCTCCCATGCACGGGCTCCACAGGACTGAAGGAGTTCAGTGTGTGCAGATCTGGGTGTACGTGGATGGTCCTGGAACCAATTTTCTGCATATACTGAGAGACAAATATGTCTCTTTCCTGCAGGAAGAGGGGAGTTCTCAAAAGAGATGTGAAGGAATACTGGGAATATCACATTTTAGTTAGAAACAGAATTTTATTTTTGAAAATAGAAAAATCAAACAATATTTTTAAAATGCAATCTATTGATGTCATCATATTTGGTTTGGAATACCTAAGAATGCAGTGACTGAAATGTCTGTTCTAAAAACATAAACATTTTTTGATATCAGTACCAACCCACTTTAATTTATATGTGAATAAGAGAACTTCGCTTGAAAAATACAAATATACATATTCGAGAGCACTACCAAATTTTGAAGCTTAATGTATTCATTGCCAACGTACTGTACATAACTAAAAGTCATTTTAAATGTTTTCTAAACAGGGACTGATGTGGATATCAACAATGGTTTCATCCTAAAACTGAGTTTTAGCATTTGTTTAGTATATTTACCTATTTAGTTAAAGCACATTACAATAATCTTTCACCCATTCCTTGTGGCTTATGTTTATTTTCATTTTTTTTAGAGATGGAATCTTGCTATGTTGTCCACGATGGATTCAAAATCCTGGGCTCAAGAGATCCTCCTGCCTCAGCCTCCTGAGCAGCTGGGACTACAGGTGTGCACCGCCACACTCCACAGCTGATGTTTTAATAAAGTGCCACTGAGTATCAGACTGATCAAACTGAAAACATCCCAGAACTTCAGACCAGGTTAAGGGGGCCAATGAGAAGATCATGAAAAGTGACATCAGATGAAAGCTGAGATCTGTGAAAGTTTCAAATCAGTTTTTCCAAGTAAGTCCACAGACCATTTGATAGGCTAAGCCCAGTTCTTTACACAATGTAGCAGCCATCATGTCTGAGTACTAATTGTTCTCTTCCCACTGGTTTTTGTGAAATTTTCTGTTCTGTTACCTTTTAAAGATTCTAGCAAGTTTTTGACTGTTTCAATTGCAAACTTATTGCTTTTCTTCTTGGTAAAGGACTTTCTGTTTGGAGCAGATGGTAGCAATAGGGATACCAGCCCCCAGGGCCGATTACTTGATATGGAAGGTCGATCTGTATCTTCCTGTTGTAAAATCCAGGCACTTTCTCGGGCCAAATCTACAAATTTTTGCAGCTGGCTTTGACTTACATTTTTGCTTATGTTGAGAGAAGTTTCAAATGGATCCTGAATGTACAGAGGAGAAGAATCAGGTTTGTTTTGCTCCCTTCCCTATAGATTATTACACAGAAGAAAAAATGAGTAAGTACATGAAGGGCTTAAATATAAAAACAGTTAACTCAATAAAATGTCAAAACACATAAAACACCAGCATTAACTTTACATAGCAAAGAATTTCTTTCTCAGGGGATTGAGTATGTATGCATGGTGGGTGTGTGTACTTCTCATTTTTTGTTTTTTTTTTCCCTGTTGTAAGTTTTATGAGTGTTCTTTGGAGAAATAACTTAGGGCTTATCATCTATGGATGATGATGTCATTGCTCAGAGAAGAGGTATCTGGACTAACTCAACCGACAAAAGTATTTTTAAAATAATATAACTTTTACCTAACAAGGTAGAGCATGAAAGGGAAAAAAATGATTAAAAAATCAGAAAGTAAGATGAAGATACGTTTATTTCTGAGACTTGCTAAAAGCATACCTATTATGGTAGAAACAGGAACACACAAAATTAGAACCCTTAAATTAAATATATTAATTAATGTTTCCCAAGTATGAGATGAGGAAAAAGAGGAGGAACAAAGGATTATTCATTATTTATTTAAAACACTAAAAAGTTTCCATTATCTTCCTATAGATCCAACAAAAGGGCTCTGCCACATAAGATAGTATCTCACAGAAATAAAAAAGATAACTGTAATCCAAGCATTTTGGGAGGCCGAGGCAGGTGGAACACCTGAGGTCAGGAGTTCAAGACAGGCCTGACCAACATGGTGAAATCCCATCTCTACTAAAAATACAAAACTAGCCAGGTGTTGTGGCGCATGCCTGTAATCCCAGCTACTTAGGAGGCTGAGGCAGGAGAATCACTTGAACCCAGGAGGCGGAGGCTGCAGTGAGCCAAGATCATGCCACTGCACTCCAGCCTGGGCAATACAGTGAGACTCTGTCTCAAAAAACAAAAACAAAAAAAAAAAAAAAAAAAAAGAAGAGAAAAGAAAAAGAAAAGCTAAAGCTATGAATCATATGACTAACATAAGCCATTAGTCTATATATCTTTTCCTCTTTCAAATGATACCATAAATTTACTTAATTAACTATTACAAAGCCAATGGTCAAAATTCCCTGATGTGAGCAGCAGCTGTTATATTCCCTAACTTATTTCATGCTTGGCATCTCTGAGCTTTGGAGTACAAAAAAGGTGACGAACTTTGTATGCTTATGACTTTTTCCTTCTAGATAGCATTTGCAAAGCTTTCCGAATGAATCCTTTCTCTCTCCTCTCCCCAATCTTTTATTTTAACAAAGAGTCCATGAGCAGGTAAGAGGGAAGGATGAAAAACGGAGAGGTGAAGAAATAAGGAGAAAGTATATCTGGGTTTGTGTTTTATGAAGCCAATCTTGTAAGGTTTGTAATCAAGTAGCCAAATGCTAAACAGAATAAACCCAAACAGAGGGCTATCCCAAGTTATCTCCCACTTGCAAACAAATTTTGTCTAGACTTCTGCCTGAGTTTCTTTTTGAAAAGAAAAAATGTCTTTCATCCCAGCTGCTCAGAAATCCAAATCGTAAGTTCATTTGCTCAAAAAAAAAAAACAAAACAAAACAAAACAAAACAAAAAAACACCTAAATCCTAAGGGCTCAAATTGAGGGAATCACTGAAATCTATCTTTGGGACTTAAGTTTATTCCATAGACACAAATCCAGTTTAAAAACAGCTGTATGTAAATAATAGTTTTCAGGAAACTTTCTGGAATGTATTCCACATCATGAGGGATACAGTATTACACTAAGTGAGGACAGAAGTCCCATGGCATAATAACAAGGCAGATGCTAAAGAGCTGGCTTTTACTATTTGGCATAAAGGGATGACTGATCTTAGTCAAGTCATGTAACTTCTCTGGACATCAACCTCCTTGTTACTACAAATTACTACACAAAAGAAATAAATAACATTTATTAGAGTGTTTTGAAAACAGTTAATTAAATATTAGTACAGTGGAAGACCAGATACTAATAACTAAATAGTAAAACATTATTTACCTGTCGAATAT
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Task1_train_13687
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This variant affects gene ZEB1-AS1, LOC130003630, ZEB1 (ZEB1 antisense RNA 1| ATAC-STARR-seq lymphoblastoid silent region 2275| zinc finger E-box binding homeobox 1) located on Chromosome 10. Evaluate its biological effect and specify any disease association.
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Pathogenic; Posterior polymorphous corneal dystrophy 3
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GCTATTTGTAATACCTCCTAAGTTTAAGAGTAGGTAAAATGTGTGATAGAGCTGGAAAGTTTTTTTTTCCTTTCTGGTCAGAAATCAGGGTAGCTGTAAAAATGTTGGTGGGGTGGGGTCAATTCCATAGTCTATGACCTGATTCGGTAGGCGACTGAAAAACATTGTACAACTCTTAAAAAAAGGGAGGAAGAACTCACACTTAACCAAGCAAAGCAAGGACACCGTGTTGACATACACAAGTTTCGGTTAACATGGTATCAAGGAAAGCGAGGACTGCCTGTACTTAAAATGATCATTAAGACTAATGATTCTAGTTTTGGCATTGAGGATGAATGCAGATATATAGACATAATGTATAGCAAAGAATATTTACAGTCACATTTCATGGACCAATAAATAACGCATTTACTTCTCAAAATGCCCAAGAAAATGTGGGAGAGAAAATGTTCATTTATATTCAAGATTAAACTTTCTAACTTTAAATCATCAGACTTCAGCTGTAAATTTATTTCAGTTGAAAGGTTTGAAGACATTATTAATGAATATTCTAAAATTCCGGAAGGTGTTTAAAAGATAATTTTAACCTAATAAAAAAATCCTGCCATAGAAGTGACAAAAATTATAAGCATAAATTTATTGAGCACCTACTATGTGTCATTGTGCTAGGTGATGTACTACGTTATTTCCAATACTCCGGTCACGTTTCAGTTTTCTCAATTTCTCTATCAATAACTGCTACATTGTTAATTTATAACTATATTACTTGAAATACAGCTCAGCTTATTTATTCCATAAAGTTGGTCCCAAAGACGTTTCCTTATTCGAAGGAGGTGGGAAGCAGGAAGGAAACCTAAATCTAAATTCTACTTAATACTGAAGACGACTTTCTTGATATTTGTGGTTATCTGTATGGTCTTTTCAGAAATCCCAAAACTTGTACCAAGTCAAGGATAAAATAAGATAAAATCAGCAATCTATCAGGTTCAGAGATCACATCTGTCAGCCGATGCTTCTTGCCTTAAGGTCCTGCACGGCGATGACCGCTCATTTAGGAAGGAATTCATGGCCTGTGGATACCTTAGCTCTGAGTCCTGCCACCTAGGATCCCACGGTTCTACGCGAGGAAGAGGGCGGGGAGCGCGGACCGGGTGTGGGAGGCCGAGGTGACAGCAGGTGAGGGCCGGGTGCGGATGGGGAAGTGAGACAAGCACCGTGTGGGTATTACTCATTCCGCTCTACTAAGGAGGCTGCTGGCAAGCGGAACTTCTAGCCTCTCTTTCAATCCAGCTGAAGTTCAATCTCATTGAAGTCACTTCCCATCCCGGTTCGCTTGGGGGGAAACCAGGCGTCCCTGGAAGGGAAGGGAAGGGAGTCCGGGCTGCGCGGGTCAGGTAGCCTCTCTCCGGTCGCCGCGTGTCCTCGCCGTCCCCAAACCTGCCCTTCCCCTCATCAAGGGAACTCCCCGGGGAGTCCAGACCGCGATCCCTTTCCTTGGCCCCGGGGTGCGGGGGGCGGACACGCGAGGCGTGGGACTGATGGTAGCCCTGCCTCCAGGAAGCAGGCAGGCGGGGACCTCTGGGCGCTCGGAGGGGCAGCTCCGAGGGCACAGGGTACAGGGAGAATCAGCCAGATCCCTCCCTGCCCCGGGCAGCCGCGGCGGGTGTGGCCAGCGCGGAGGCAGGACGCCGCCGAGCCTCCAACTTTACCTTTCCAACTCCGACAGCCCGTCGCCTTTCTGACCGCGTCCCTACGGTTTCCCGGCATCCGCCTCCCTCTCCCCACCACACCTGAGGAAAACTTTTCCCTCGCCCCTCAATTCAAATTCAGCAGTGCCCACGGTTGCCGCAAACCGCCCGGTCCCTAGCAACAAGGTTCCGGCCGTAGAGCGAGAGCCTCTAGGTGTAAGGAAGGTGATGTCGTAAAGCCGGGAGTGTCGTAAACCAGGTGCGGTGGGGAGGGGGGAGGGGTGGAGGCGGAGGGGTGGGGGGGAAGGGGGAGGGAGGGGGAGGAGGTGACTCGAGCATTTAGACACAAGCGAGAGGATCATGGCGGATGGCCCCAGGTGTAAGCGCAGAAAGCAGGCGAACCCGCGGCGCAATAACGGTGAGTGGCGGAGGGGACCGGGGAGCGGCGGAGTCAGGGGGAGCTGGGCAGCCGGGGCGCCCCCGGGGGTGAGGGGGGCGAGCCGGGCTGGGGGCAGCCGGGGCAGGGACGGCAAAGTGGAGTGGGAAAGTAGAAAGTAGTGCTCTCTGCCCCCCTCCGCTGCCGCCGCTGCCGGAGCCGCGCCGCGGCCGCTCGCTCTCCCTGAACCGTTATGTCTCTTACCTGGTCTCTCTCCGCCTAGCGGCTCCCGCCGCCCCTGCCGCCTCCCTGGACCGTTAGCCGGCGCCGACGCCGCCGCATCCCCGGCGCAGGGCGGGCGGCCGGGACGCACTGGCCACTTTTCTGGTCCCGGGTGGAGCGGCTGTTGCTTCTTTCCGCACTTTTCCCCACTCTTGTGCCCTTCGGCGCCTCCCTCTCCCCCTCCTCCTGGCCCCCTCAGCGCGATTCTCCCTCAGCGCCCAGGCCCCCGGGAGCCGCGGAACAAACTTGTGCCCGGCGCTGACCGTGCAAAGTGGCTTCCGCGCGCCGCGGCCCCGGCCGGCGCCGTCGCTGTCGCTCGGGCCCCGCGACTCGGGCCGGGCTGTGGGCGCGCGGCAGGCGGGCTGCGGCGGCGGCGGGACGGGGCGGCCGCGGGTTGCGTGGGGTTTGTGCGCGCGTGTGCGCGGGCGCCGGCTGTGCGCGCCGCGGGCGGACAGGGTTCGGCCGGCGGCGGTAAAGTTGGGACCCGCGGGCCGGGCGCGCTCGCGTAACGGGGATTAGAGGCGCGGGGGCGCGGGTCCCTAAGCGCCCCTCCTCCCTGGCGCCTCCCGCTGCCCGGCCCAGAGCCCCGGCCTGGGGACTCCGCGGCGAGCCCCGCGAGTGGGGTCCACGTTTGGCGGGGCGCGGCGGGGCGGCGCGGGGAACAAGGCAGGAAAGGTACCCACTTAACGCCGCCGGGAGCCGCGCGGATGGGGGCGAGCTGGGCGGCGGGTGTGTTTGCGGAGTTGTTACCTGGGCTTAGAGACCGGGAAGCACCACAGACAGATCCCCCTCCCGGGGCAGACGAGGTCTCTGCGCCGGGATGGGCCGGTGTGCGTGCGCCTCGCGCTTTTCTCTTTCGGTTTTTGGGGAAGTTGTTACCTGGGCCGGACGCACGGAGCGCTGAAGCCGGATAATGGGGCTTGGATGGCGCTCTGGGTCTCGGGTGGAAGGAGGGTGGGGGAGGGGGCGGACGGACCGACGGACGCGCGGGGCTGCTACTTGCACCGCAGCTGCAGTGTTTATTGATTTGTGCTGCTGTGCCAAGGGAAACACACACCCCTCTGCCTGGCGTGAGAGTTAAAAAAAAAGAGAGACAGCCCGAGGGATCGAGACCTGAACATGTGGTGGTGGTTGCACAGTCGCCTTTTCCAGTTTGGAGAGACGTTGTAAGTTGATTGTATTTCTGGTTATCTCGGGGCGATGCTATGCTTTCTCTCCCTCTCGTGCAGCAGCGAAATGTCTGCTGATTGTTATTGTCTGGACAGTTCCTGTGGCGAGAGGGGCGAGACTTGTCCGCCCGGGGGCGGCGGGAGCGCAGGGAGAGCAGCCCCCGCCTGCGCCGCCCCGGTACCTGTTTGTATAATAATGGGCGGCAACGGCCCTGCCGCCGGCCGCAGCCCAGGCTATATAAGGAATTACACGTACATTTCGGACCGAGGGGCTCGCTTTGGTTCCTGCGTTATTTTTAAAACGACTTTTAAGAGAGGGGCAATAAATGCGTCTATAATGGGACCGCTGCAGCGTCGAGAAAACGAGGAAATACGTGTTTAGGAGAAAACTCTCTCGTGCTCCCCCAGCCCCACCCCCCGCGCCTGGGCTCCCTTTCTCCCTCCCCTCTGGGATGCGAAACGCGAGGTTTTGTAACCTTTCCTGGCAATTTTAGATTTTGTGTGGGATTTCCTGTCTAGAAGCAGATACGAAGATTTTTAAGCTGTTTCAAGATGTTTCCTTCCAATCCATAATTATATTT
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GCTATTTGTAATACCTCCTAAGTTTAAGAGTAGGTAAAATGTGTGATAGAGCTGGAAAGTTTTTTTTTCCTTTCTGGTCAGAAATCAGGGTAGCTGTAAAAATGTTGGTGGGGTGGGGTCAATTCCATAGTCTATGACCTGATTCGGTAGGCGACTGAAAAACATTGTACAACTCTTAAAAAAAGGGAGGAAGAACTCACACTTAACCAAGCAAAGCAAGGACACCGTGTTGACATACACAAGTTTCGGTTAACATGGTATCAAGGAAAGCGAGGACTGCCTGTACTTAAAATGATCATTAAGACTAATGATTCTAGTTTTGGCATTGAGGATGAATGCAGATATATAGACATAATGTATAGCAAAGAATATTTACAGTCACATTTCATGGACCAATAAATAACGCATTTACTTCTCAAAATGCCCAAGAAAATGTGGGAGAGAAAATGTTCATTTATATTCAAGATTAAACTTTCTAACTTTAAATCATCAGACTTCAGCTGTAAATTTATTTCAGTTGAAAGGTTTGAAGACATTATTAATGAATATTCTAAAATTCCGGAAGGTGTTTAAAAGATAATTTTAACCTAATAAAAAAATCCTGCCATAGAAGTGACAAAAATTATAAGCATAAATTTATTGAGCACCTACTATGTGTCATTGTGCTAGGTGATGTACTACGTTATTTCCAATACTCCGGTCACGTTTCAGTTTTCTCAATTTCTCTATCAATAACTGCTACATTGTTAATTTATAACTATATTACTTGAAATACAGCTCAGCTTATTTATTCCATAAAGTTGGTCCCAAAGACGTTTCCTTATTCGAAGGAGGTGGGAAGCAGGAAGGAAACCTAAATCTAAATTCTACTTAATACTGAAGACGACTTTCTTGATATTTGTGGTTATCTGTATGGTCTTTTCAGAAATCCCAAAACTTGTACCAAGTCAAGGATAAAATAAGATAAAATCAGCAATCTATCAGGTTCAGAGATCACATCTGTCAGCCGATGCTTCTTGCCTTAAGGTCCTGCACGGCGATGACCGCTCATTTAGGAAGGAATTCATGGCCTGTGGATACCTTAGCTCTGAGTCCTGCCACCTAGGATCCCACGGTTCTACGCGAGGAAGAGGGCGGGGAGCGCGGACCGGGTGTGGGAGGCCGAGGTGACAGCAGGTGAGGGCCGGGTGCGGATGGGGAAGTGAGACAAGCACCGTGTGGGTATTACTCATTCCGCTCTACTAAGGAGGCTGCTGGCAAGCGGAACTTCTAGCCTCTCTTTCAATCCAGCTGAAGTTCAATCTCATTGAAGTCACTTCCCATCCCGGTTCGCTTGGGGGGAAACCAGGCGTCCCTGGAAGGGAAGGGAAGGGAGTCCGGGCTGCGCGGGTCAGGTAGCCTCTCTCCGGTCGCCGCGTGTCCTCGCCGTCCCCAAACCTGCCCTTCCCCTCATCAAGGGAACTCCCCGGGGAGTCCAGACCGCGATCCCTTTCCTTGGCCCCGGGGTGCGGGGGGCGGACACGCGAGGCGTGGGACTGATGGTAGCCCTGCCTCCAGGAAGCAGGCAGGCGGGGACCTCTGGGCGCTCGGAGGGGCAGCTCCGAGGGCACAGGGTACAGGGAGAATCAGCCAGATCCCTCCCTGCCCCGGGCAGCCGCGGCGGGTGTGGCCAGCGCGGAGGCAGGACGCCGCCGAGCCTCCAACTTTACCTTTCCAACTCCGACAGCCCGTCGCCTTTCTGACCGCGTCCCTACGGTTTCCCGGCATCCGCCTCCCTCTCCCCACCACACCTGAGGAAAACTTTTCCCTCGCCCCTCAATTCAAATTCAGCAGTGCCCACGGTTGCCGCAAACCGCCCGGTCCCTAGCAACAAGGTTCCGGCCGTAGAGCGAGAGCCTCTAGGTGTAAGGAAGGTGATGTCGTAAAGCCGGGAGTGTCGTAAACCAGGTGCGGTGGGGAGGGGGGAGGGGTGGAGGCGGAGGGGTGGGGGGGAAGGGGGAGGGAGGGGGAGGAGGTGACTCGAGCATTTAGACACAAGCGAGAGGATCCTGGCGGATGGCCCCAGGTGTAAGCGCAGAAAGCAGGCGAACCCGCGGCGCAATAACGGTGAGTGGCGGAGGGGACCGGGGAGCGGCGGAGTCAGGGGGAGCTGGGCAGCCGGGGCGCCCCCGGGGGTGAGGGGGGCGAGCCGGGCTGGGGGCAGCCGGGGCAGGGACGGCAAAGTGGAGTGGGAAAGTAGAAAGTAGTGCTCTCTGCCCCCCTCCGCTGCCGCCGCTGCCGGAGCCGCGCCGCGGCCGCTCGCTCTCCCTGAACCGTTATGTCTCTTACCTGGTCTCTCTCCGCCTAGCGGCTCCCGCCGCCCCTGCCGCCTCCCTGGACCGTTAGCCGGCGCCGACGCCGCCGCATCCCCGGCGCAGGGCGGGCGGCCGGGACGCACTGGCCACTTTTCTGGTCCCGGGTGGAGCGGCTGTTGCTTCTTTCCGCACTTTTCCCCACTCTTGTGCCCTTCGGCGCCTCCCTCTCCCCCTCCTCCTGGCCCCCTCAGCGCGATTCTCCCTCAGCGCCCAGGCCCCCGGGAGCCGCGGAACAAACTTGTGCCCGGCGCTGACCGTGCAAAGTGGCTTCCGCGCGCCGCGGCCCCGGCCGGCGCCGTCGCTGTCGCTCGGGCCCCGCGACTCGGGCCGGGCTGTGGGCGCGCGGCAGGCGGGCTGCGGCGGCGGCGGGACGGGGCGGCCGCGGGTTGCGTGGGGTTTGTGCGCGCGTGTGCGCGGGCGCCGGCTGTGCGCGCCGCGGGCGGACAGGGTTCGGCCGGCGGCGGTAAAGTTGGGACCCGCGGGCCGGGCGCGCTCGCGTAACGGGGATTAGAGGCGCGGGGGCGCGGGTCCCTAAGCGCCCCTCCTCCCTGGCGCCTCCCGCTGCCCGGCCCAGAGCCCCGGCCTGGGGACTCCGCGGCGAGCCCCGCGAGTGGGGTCCACGTTTGGCGGGGCGCGGCGGGGCGGCGCGGGGAACAAGGCAGGAAAGGTACCCACTTAACGCCGCCGGGAGCCGCGCGGATGGGGGCGAGCTGGGCGGCGGGTGTGTTTGCGGAGTTGTTACCTGGGCTTAGAGACCGGGAAGCACCACAGACAGATCCCCCTCCCGGGGCAGACGAGGTCTCTGCGCCGGGATGGGCCGGTGTGCGTGCGCCTCGCGCTTTTCTCTTTCGGTTTTTGGGGAAGTTGTTACCTGGGCCGGACGCACGGAGCGCTGAAGCCGGATAATGGGGCTTGGATGGCGCTCTGGGTCTCGGGTGGAAGGAGGGTGGGGGAGGGGGCGGACGGACCGACGGACGCGCGGGGCTGCTACTTGCACCGCAGCTGCAGTGTTTATTGATTTGTGCTGCTGTGCCAAGGGAAACACACACCCCTCTGCCTGGCGTGAGAGTTAAAAAAAAAGAGAGACAGCCCGAGGGATCGAGACCTGAACATGTGGTGGTGGTTGCACAGTCGCCTTTTCCAGTTTGGAGAGACGTTGTAAGTTGATTGTATTTCTGGTTATCTCGGGGCGATGCTATGCTTTCTCTCCCTCTCGTGCAGCAGCGAAATGTCTGCTGATTGTTATTGTCTGGACAGTTCCTGTGGCGAGAGGGGCGAGACTTGTCCGCCCGGGGGCGGCGGGAGCGCAGGGAGAGCAGCCCCCGCCTGCGCCGCCCCGGTACCTGTTTGTATAATAATGGGCGGCAACGGCCCTGCCGCCGGCCGCAGCCCAGGCTATATAAGGAATTACACGTACATTTCGGACCGAGGGGCTCGCTTTGGTTCCTGCGTTATTTTTAAAACGACTTTTAAGAGAGGGGCAATAAATGCGTCTATAATGGGACCGCTGCAGCGTCGAGAAAACGAGGAAATACGTGTTTAGGAGAAAACTCTCTCGTGCTCCCCCAGCCCCACCCCCCGCGCCTGGGCTCCCTTTCTCCCTCCCCTCTGGGATGCGAAACGCGAGGTTTTGTAACCTTTCCTGGCAATTTTAGATTTTGTGTGGGATTTCCTGTCTAGAAGCAGATACGAAGATTTTTAAGCTGTTTCAAGATGTTTCCTTCCAATCCATAATTATATTT
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Task1_train_13688
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Chromosome 10 houses a mutation in gene LOC130003630, ZEB1, ZEB1-AS1 (ATAC-STARR-seq lymphoblastoid silent region 2275| zinc finger E-box binding homeobox 1| ZEB1 antisense RNA 1). Classify its clinical impact — is it pathogenic or benign, and what disease does it lead to if any?
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Pathogenic; not provided
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TATTTGTAATACCTCCTAAGTTTAAGAGTAGGTAAAATGTGTGATAGAGCTGGAAAGTTTTTTTTTCCTTTCTGGTCAGAAATCAGGGTAGCTGTAAAAATGTTGGTGGGGTGGGGTCAATTCCATAGTCTATGACCTGATTCGGTAGGCGACTGAAAAACATTGTACAACTCTTAAAAAAAGGGAGGAAGAACTCACACTTAACCAAGCAAAGCAAGGACACCGTGTTGACATACACAAGTTTCGGTTAACATGGTATCAAGGAAAGCGAGGACTGCCTGTACTTAAAATGATCATTAAGACTAATGATTCTAGTTTTGGCATTGAGGATGAATGCAGATATATAGACATAATGTATAGCAAAGAATATTTACAGTCACATTTCATGGACCAATAAATAACGCATTTACTTCTCAAAATGCCCAAGAAAATGTGGGAGAGAAAATGTTCATTTATATTCAAGATTAAACTTTCTAACTTTAAATCATCAGACTTCAGCTGTAAATTTATTTCAGTTGAAAGGTTTGAAGACATTATTAATGAATATTCTAAAATTCCGGAAGGTGTTTAAAAGATAATTTTAACCTAATAAAAAAATCCTGCCATAGAAGTGACAAAAATTATAAGCATAAATTTATTGAGCACCTACTATGTGTCATTGTGCTAGGTGATGTACTACGTTATTTCCAATACTCCGGTCACGTTTCAGTTTTCTCAATTTCTCTATCAATAACTGCTACATTGTTAATTTATAACTATATTACTTGAAATACAGCTCAGCTTATTTATTCCATAAAGTTGGTCCCAAAGACGTTTCCTTATTCGAAGGAGGTGGGAAGCAGGAAGGAAACCTAAATCTAAATTCTACTTAATACTGAAGACGACTTTCTTGATATTTGTGGTTATCTGTATGGTCTTTTCAGAAATCCCAAAACTTGTACCAAGTCAAGGATAAAATAAGATAAAATCAGCAATCTATCAGGTTCAGAGATCACATCTGTCAGCCGATGCTTCTTGCCTTAAGGTCCTGCACGGCGATGACCGCTCATTTAGGAAGGAATTCATGGCCTGTGGATACCTTAGCTCTGAGTCCTGCCACCTAGGATCCCACGGTTCTACGCGAGGAAGAGGGCGGGGAGCGCGGACCGGGTGTGGGAGGCCGAGGTGACAGCAGGTGAGGGCCGGGTGCGGATGGGGAAGTGAGACAAGCACCGTGTGGGTATTACTCATTCCGCTCTACTAAGGAGGCTGCTGGCAAGCGGAACTTCTAGCCTCTCTTTCAATCCAGCTGAAGTTCAATCTCATTGAAGTCACTTCCCATCCCGGTTCGCTTGGGGGGAAACCAGGCGTCCCTGGAAGGGAAGGGAAGGGAGTCCGGGCTGCGCGGGTCAGGTAGCCTCTCTCCGGTCGCCGCGTGTCCTCGCCGTCCCCAAACCTGCCCTTCCCCTCATCAAGGGAACTCCCCGGGGAGTCCAGACCGCGATCCCTTTCCTTGGCCCCGGGGTGCGGGGGGCGGACACGCGAGGCGTGGGACTGATGGTAGCCCTGCCTCCAGGAAGCAGGCAGGCGGGGACCTCTGGGCGCTCGGAGGGGCAGCTCCGAGGGCACAGGGTACAGGGAGAATCAGCCAGATCCCTCCCTGCCCCGGGCAGCCGCGGCGGGTGTGGCCAGCGCGGAGGCAGGACGCCGCCGAGCCTCCAACTTTACCTTTCCAACTCCGACAGCCCGTCGCCTTTCTGACCGCGTCCCTACGGTTTCCCGGCATCCGCCTCCCTCTCCCCACCACACCTGAGGAAAACTTTTCCCTCGCCCCTCAATTCAAATTCAGCAGTGCCCACGGTTGCCGCAAACCGCCCGGTCCCTAGCAACAAGGTTCCGGCCGTAGAGCGAGAGCCTCTAGGTGTAAGGAAGGTGATGTCGTAAAGCCGGGAGTGTCGTAAACCAGGTGCGGTGGGGAGGGGGGAGGGGTGGAGGCGGAGGGGTGGGGGGGAAGGGGGAGGGAGGGGGAGGAGGTGACTCGAGCATTTAGACACAAGCGAGAGGATCATGGCGGATGGCCCCAGGTGTAAGCGCAGAAAGCAGGCGAACCCGCGGCGCAATAACGGTGAGTGGCGGAGGGGACCGGGGAGCGGCGGAGTCAGGGGGAGCTGGGCAGCCGGGGCGCCCCCGGGGGTGAGGGGGGCGAGCCGGGCTGGGGGCAGCCGGGGCAGGGACGGCAAAGTGGAGTGGGAAAGTAGAAAGTAGTGCTCTCTGCCCCCCTCCGCTGCCGCCGCTGCCGGAGCCGCGCCGCGGCCGCTCGCTCTCCCTGAACCGTTATGTCTCTTACCTGGTCTCTCTCCGCCTAGCGGCTCCCGCCGCCCCTGCCGCCTCCCTGGACCGTTAGCCGGCGCCGACGCCGCCGCATCCCCGGCGCAGGGCGGGCGGCCGGGACGCACTGGCCACTTTTCTGGTCCCGGGTGGAGCGGCTGTTGCTTCTTTCCGCACTTTTCCCCACTCTTGTGCCCTTCGGCGCCTCCCTCTCCCCCTCCTCCTGGCCCCCTCAGCGCGATTCTCCCTCAGCGCCCAGGCCCCCGGGAGCCGCGGAACAAACTTGTGCCCGGCGCTGACCGTGCAAAGTGGCTTCCGCGCGCCGCGGCCCCGGCCGGCGCCGTCGCTGTCGCTCGGGCCCCGCGACTCGGGCCGGGCTGTGGGCGCGCGGCAGGCGGGCTGCGGCGGCGGCGGGACGGGGCGGCCGCGGGTTGCGTGGGGTTTGTGCGCGCGTGTGCGCGGGCGCCGGCTGTGCGCGCCGCGGGCGGACAGGGTTCGGCCGGCGGCGGTAAAGTTGGGACCCGCGGGCCGGGCGCGCTCGCGTAACGGGGATTAGAGGCGCGGGGGCGCGGGTCCCTAAGCGCCCCTCCTCCCTGGCGCCTCCCGCTGCCCGGCCCAGAGCCCCGGCCTGGGGACTCCGCGGCGAGCCCCGCGAGTGGGGTCCACGTTTGGCGGGGCGCGGCGGGGCGGCGCGGGGAACAAGGCAGGAAAGGTACCCACTTAACGCCGCCGGGAGCCGCGCGGATGGGGGCGAGCTGGGCGGCGGGTGTGTTTGCGGAGTTGTTACCTGGGCTTAGAGACCGGGAAGCACCACAGACAGATCCCCCTCCCGGGGCAGACGAGGTCTCTGCGCCGGGATGGGCCGGTGTGCGTGCGCCTCGCGCTTTTCTCTTTCGGTTTTTGGGGAAGTTGTTACCTGGGCCGGACGCACGGAGCGCTGAAGCCGGATAATGGGGCTTGGATGGCGCTCTGGGTCTCGGGTGGAAGGAGGGTGGGGGAGGGGGCGGACGGACCGACGGACGCGCGGGGCTGCTACTTGCACCGCAGCTGCAGTGTTTATTGATTTGTGCTGCTGTGCCAAGGGAAACACACACCCCTCTGCCTGGCGTGAGAGTTAAAAAAAAAGAGAGACAGCCCGAGGGATCGAGACCTGAACATGTGGTGGTGGTTGCACAGTCGCCTTTTCCAGTTTGGAGAGACGTTGTAAGTTGATTGTATTTCTGGTTATCTCGGGGCGATGCTATGCTTTCTCTCCCTCTCGTGCAGCAGCGAAATGTCTGCTGATTGTTATTGTCTGGACAGTTCCTGTGGCGAGAGGGGCGAGACTTGTCCGCCCGGGGGCGGCGGGAGCGCAGGGAGAGCAGCCCCCGCCTGCGCCGCCCCGGTACCTGTTTGTATAATAATGGGCGGCAACGGCCCTGCCGCCGGCCGCAGCCCAGGCTATATAAGGAATTACACGTACATTTCGGACCGAGGGGCTCGCTTTGGTTCCTGCGTTATTTTTAAAACGACTTTTAAGAGAGGGGCAATAAATGCGTCTATAATGGGACCGCTGCAGCGTCGAGAAAACGAGGAAATACGTGTTTAGGAGAAAACTCTCTCGTGCTCCCCCAGCCCCACCCCCCGCGCCTGGGCTCCCTTTCTCCCTCCCCTCTGGGATGCGAAACGCGAGGTTTTGTAACCTTTCCTGGCAATTTTAGATTTTGTGTGGGATTTCCTGTCTAGAAGCAGATACGAAGATTTTTAAGCTGTTTCAAGATGTTTCCTTCCAATCCATAATTATATTTTT
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TATTTGTAATACCTCCTAAGTTTAAGAGTAGGTAAAATGTGTGATAGAGCTGGAAAGTTTTTTTTTCCTTTCTGGTCAGAAATCAGGGTAGCTGTAAAAATGTTGGTGGGGTGGGGTCAATTCCATAGTCTATGACCTGATTCGGTAGGCGACTGAAAAACATTGTACAACTCTTAAAAAAAGGGAGGAAGAACTCACACTTAACCAAGCAAAGCAAGGACACCGTGTTGACATACACAAGTTTCGGTTAACATGGTATCAAGGAAAGCGAGGACTGCCTGTACTTAAAATGATCATTAAGACTAATGATTCTAGTTTTGGCATTGAGGATGAATGCAGATATATAGACATAATGTATAGCAAAGAATATTTACAGTCACATTTCATGGACCAATAAATAACGCATTTACTTCTCAAAATGCCCAAGAAAATGTGGGAGAGAAAATGTTCATTTATATTCAAGATTAAACTTTCTAACTTTAAATCATCAGACTTCAGCTGTAAATTTATTTCAGTTGAAAGGTTTGAAGACATTATTAATGAATATTCTAAAATTCCGGAAGGTGTTTAAAAGATAATTTTAACCTAATAAAAAAATCCTGCCATAGAAGTGACAAAAATTATAAGCATAAATTTATTGAGCACCTACTATGTGTCATTGTGCTAGGTGATGTACTACGTTATTTCCAATACTCCGGTCACGTTTCAGTTTTCTCAATTTCTCTATCAATAACTGCTACATTGTTAATTTATAACTATATTACTTGAAATACAGCTCAGCTTATTTATTCCATAAAGTTGGTCCCAAAGACGTTTCCTTATTCGAAGGAGGTGGGAAGCAGGAAGGAAACCTAAATCTAAATTCTACTTAATACTGAAGACGACTTTCTTGATATTTGTGGTTATCTGTATGGTCTTTTCAGAAATCCCAAAACTTGTACCAAGTCAAGGATAAAATAAGATAAAATCAGCAATCTATCAGGTTCAGAGATCACATCTGTCAGCCGATGCTTCTTGCCTTAAGGTCCTGCACGGCGATGACCGCTCATTTAGGAAGGAATTCATGGCCTGTGGATACCTTAGCTCTGAGTCCTGCCACCTAGGATCCCACGGTTCTACGCGAGGAAGAGGGCGGGGAGCGCGGACCGGGTGTGGGAGGCCGAGGTGACAGCAGGTGAGGGCCGGGTGCGGATGGGGAAGTGAGACAAGCACCGTGTGGGTATTACTCATTCCGCTCTACTAAGGAGGCTGCTGGCAAGCGGAACTTCTAGCCTCTCTTTCAATCCAGCTGAAGTTCAATCTCATTGAAGTCACTTCCCATCCCGGTTCGCTTGGGGGGAAACCAGGCGTCCCTGGAAGGGAAGGGAAGGGAGTCCGGGCTGCGCGGGTCAGGTAGCCTCTCTCCGGTCGCCGCGTGTCCTCGCCGTCCCCAAACCTGCCCTTCCCCTCATCAAGGGAACTCCCCGGGGAGTCCAGACCGCGATCCCTTTCCTTGGCCCCGGGGTGCGGGGGGCGGACACGCGAGGCGTGGGACTGATGGTAGCCCTGCCTCCAGGAAGCAGGCAGGCGGGGACCTCTGGGCGCTCGGAGGGGCAGCTCCGAGGGCACAGGGTACAGGGAGAATCAGCCAGATCCCTCCCTGCCCCGGGCAGCCGCGGCGGGTGTGGCCAGCGCGGAGGCAGGACGCCGCCGAGCCTCCAACTTTACCTTTCCAACTCCGACAGCCCGTCGCCTTTCTGACCGCGTCCCTACGGTTTCCCGGCATCCGCCTCCCTCTCCCCACCACACCTGAGGAAAACTTTTCCCTCGCCCCTCAATTCAAATTCAGCAGTGCCCACGGTTGCCGCAAACCGCCCGGTCCCTAGCAACAAGGTTCCGGCCGTAGAGCGAGAGCCTCTAGGTGTAAGGAAGGTGATGTCGTAAAGCCGGGAGTGTCGTAAACCAGGTGCGGTGGGGAGGGGGGAGGGGTGGAGGCGGAGGGGTGGGGGGGAAGGGGGAGGGAGGGGGAGGAGGTGACTCGAGCATTTAGACACAAGCGAGAGGATCATAGCGGATGGCCCCAGGTGTAAGCGCAGAAAGCAGGCGAACCCGCGGCGCAATAACGGTGAGTGGCGGAGGGGACCGGGGAGCGGCGGAGTCAGGGGGAGCTGGGCAGCCGGGGCGCCCCCGGGGGTGAGGGGGGCGAGCCGGGCTGGGGGCAGCCGGGGCAGGGACGGCAAAGTGGAGTGGGAAAGTAGAAAGTAGTGCTCTCTGCCCCCCTCCGCTGCCGCCGCTGCCGGAGCCGCGCCGCGGCCGCTCGCTCTCCCTGAACCGTTATGTCTCTTACCTGGTCTCTCTCCGCCTAGCGGCTCCCGCCGCCCCTGCCGCCTCCCTGGACCGTTAGCCGGCGCCGACGCCGCCGCATCCCCGGCGCAGGGCGGGCGGCCGGGACGCACTGGCCACTTTTCTGGTCCCGGGTGGAGCGGCTGTTGCTTCTTTCCGCACTTTTCCCCACTCTTGTGCCCTTCGGCGCCTCCCTCTCCCCCTCCTCCTGGCCCCCTCAGCGCGATTCTCCCTCAGCGCCCAGGCCCCCGGGAGCCGCGGAACAAACTTGTGCCCGGCGCTGACCGTGCAAAGTGGCTTCCGCGCGCCGCGGCCCCGGCCGGCGCCGTCGCTGTCGCTCGGGCCCCGCGACTCGGGCCGGGCTGTGGGCGCGCGGCAGGCGGGCTGCGGCGGCGGCGGGACGGGGCGGCCGCGGGTTGCGTGGGGTTTGTGCGCGCGTGTGCGCGGGCGCCGGCTGTGCGCGCCGCGGGCGGACAGGGTTCGGCCGGCGGCGGTAAAGTTGGGACCCGCGGGCCGGGCGCGCTCGCGTAACGGGGATTAGAGGCGCGGGGGCGCGGGTCCCTAAGCGCCCCTCCTCCCTGGCGCCTCCCGCTGCCCGGCCCAGAGCCCCGGCCTGGGGACTCCGCGGCGAGCCCCGCGAGTGGGGTCCACGTTTGGCGGGGCGCGGCGGGGCGGCGCGGGGAACAAGGCAGGAAAGGTACCCACTTAACGCCGCCGGGAGCCGCGCGGATGGGGGCGAGCTGGGCGGCGGGTGTGTTTGCGGAGTTGTTACCTGGGCTTAGAGACCGGGAAGCACCACAGACAGATCCCCCTCCCGGGGCAGACGAGGTCTCTGCGCCGGGATGGGCCGGTGTGCGTGCGCCTCGCGCTTTTCTCTTTCGGTTTTTGGGGAAGTTGTTACCTGGGCCGGACGCACGGAGCGCTGAAGCCGGATAATGGGGCTTGGATGGCGCTCTGGGTCTCGGGTGGAAGGAGGGTGGGGGAGGGGGCGGACGGACCGACGGACGCGCGGGGCTGCTACTTGCACCGCAGCTGCAGTGTTTATTGATTTGTGCTGCTGTGCCAAGGGAAACACACACCCCTCTGCCTGGCGTGAGAGTTAAAAAAAAAGAGAGACAGCCCGAGGGATCGAGACCTGAACATGTGGTGGTGGTTGCACAGTCGCCTTTTCCAGTTTGGAGAGACGTTGTAAGTTGATTGTATTTCTGGTTATCTCGGGGCGATGCTATGCTTTCTCTCCCTCTCGTGCAGCAGCGAAATGTCTGCTGATTGTTATTGTCTGGACAGTTCCTGTGGCGAGAGGGGCGAGACTTGTCCGCCCGGGGGCGGCGGGAGCGCAGGGAGAGCAGCCCCCGCCTGCGCCGCCCCGGTACCTGTTTGTATAATAATGGGCGGCAACGGCCCTGCCGCCGGCCGCAGCCCAGGCTATATAAGGAATTACACGTACATTTCGGACCGAGGGGCTCGCTTTGGTTCCTGCGTTATTTTTAAAACGACTTTTAAGAGAGGGGCAATAAATGCGTCTATAATGGGACCGCTGCAGCGTCGAGAAAACGAGGAAATACGTGTTTAGGAGAAAACTCTCTCGTGCTCCCCCAGCCCCACCCCCCGCGCCTGGGCTCCCTTTCTCCCTCCCCTCTGGGATGCGAAACGCGAGGTTTTGTAACCTTTCCTGGCAATTTTAGATTTTGTGTGGGATTTCCTGTCTAGAAGCAGATACGAAGATTTTTAAGCTGTTTCAAGATGTTTCCTTCCAATCCATAATTATATTTTT
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Task1_train_13689
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The gene ZEB1 (zinc finger E-box binding homeobox 1) is located on Chromosome 10, where a mutation has occurred. What is the medical relevance of this mutation?
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Pathogenic; Corneal dystrophy, Fuchs endothelial, 6
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TTTAAATTATAAATTAGTGAACTATAACTTAAAACTCAAAGGAAACATTAGGTTTGTAGGAAAATATTCCATTTAGCTCGGTGCTTTCAAAATTTTCTACCAAAGTATCCCTAACAGCCAAGGAGAATAAATGCCTTTTACCCCACAGAGTCTAGGGAAGCAGCTTGAGGGAAGCCTCTGCAAGCCAAAGGCTACTTTGACAGTGCGTGGCTTTTCCTAGCAAGTCACACAAATGTGTTTTTCTCTGTTTTAATATAAAAATAATGTTTTATCATATCCACTGTCACTAAAATTGAAACTCCAAGGTGCTTTGATACCCACTACAGTGTTTATCCTGGGAGTATATACATTTCAGTTTAATAAGCCAATGCTTATAGAATATCTTATATAAGTTTTCCTCCCATTAGGGAAAAACTATTTTCAAGAAAGCCCTATGGGTACAGGAATTATTATTAATCAAAGATAGATATTCATACTTGTTAAGTCATATGGGACATTTTACTTATTTTTCTTTTCTTTAATATTTCTCCTACAGATGGTTGAGTAGAGTAAAATATAGAAAATTATATAGGTCGGTGAAATGGGATAAGAAAAAACATACTTGAAAGAGTAGAATGTAATTACTTTTGATACTTGAGAATTATTTGAAGTTATAAAGATTGGTGGAAATATTATACACATATGCTGAGAAGATTCCATGATTGGTTAGCAGAACATGTACCTCAGACTTAGTTACTAGCGTTCATCACATCTATGTAGGTTTTGAAGCTAAAAAGTTTATTCTAAATACAGTTCTGTCACAAGCATGCATGGCAGTCTTCTTTTTAAAATTGATACCGCTTGTTTTAGGGAAATGAGGATACATAAAAATTTATATGTAATAATTCAGTGAATATAATTTGTTTGTTTGTTTGTTTAGGAGAGAAGCCATATGAATGCCCAAACTGCAAGAAACGCTTTTCCCATTCTGGCTCCTATAGCTCACACATAAGCAGTAAGAAATGTATCAGCTTGATACCTGTGAATGGGCGACCAAGAACAGGACTCAAGACATCTCAGTGTTCTTCACCGTCTCTTTCAGCATCACCAGGCAGTCCCACACGACCACAGATACGGCAAAAGATAGAGAATAAACCCCTTCAAGAACAACTTTCTGTTAACCAAATTAAAACTGAACCTGTGGATTATGAATTCAAACCCATAGTGGTTGCTTCAGGAATCAACTGTTCAACCCCTTTACAAAATGGGGTTTTCACTGGTGGTGGCCCATTACAGGCAACCAGTTCTCCTCAGGGCATGGTGCAAGCTGTTGTTCTGCCAACAGTTGGTTTGGTGTCTCCCATAAGTATCAATTTAAGTGATATTCAGAATGTACTTAAAGTGGCGGTAGATGGTAATGTAATAAGGCAAGTGTTGGAGAATAATCAAGCCAATCTTGCATCCAAAGAACAAGAAACAATCAATGCTTCACCCATACAACAAGGTGGCCATTCTGTTATTTCAGCCATCAGTCTTCCTTTGGTTGATCAAGATGGAACAACCAAAATTATCATCAACTACAGTCTTGAGCAGCCTAGCCAACTTCAAGTTGTTCCTCAAAATTTAAAAAAAGAAAATCCAGTCGCTACAAACAGTTGTAAAAGTGAAAAGTTACCAGAAGATCTTACTGTTAAGTCTGAGAAGGACAAAAGCTTTGAAGGGGGGGTGAATGATAGCACTTGTCTTCTGTGTGATGATTGTCCAGGAGATATTAATGCACTTCCAGAATTAAAGCACTATGACCTAAAGCAGCCTACTCAGCCTCCTCCACTCCCTGCAGCAGAAGCTGAGAAGCCTGAGTCCTCTGTTTCATCAGCTACTGGAGATGGCAATTTGTCTCCTAGTCAGCCACCTTTAAAGAACCTCTTGTCTCTCCTAAAAGCATATTATGCTTTGAATGCACAACCAAGTGCAGAAGAGCTCTCAAAAATTGCTGATTCAGTAAACCTACCACTGGATGTAGTAAAAAAGTGGTTTGAAAAGATGCAAGCTGGACAGATTTCAGTGCAGTCTTCTGAACCATCTTCTCCTGAACCAGGCAAAGTAAATATCCCTGCCAAGAACAATGATCAGCCTCAATCTGCAAATGCAAATGAACCCCAGGACAGCACAGTAAATCTACAAAGTCCTTTGAAGATGACTAACTCCCCAGTTTTACCAGTGGGATCAACCACCAATGGTTCCAGAAGTAGTACACCATCCCCATCACCTCTAAACCTTTCCTCATCCAGAAATACACAGGGTTACTTGTACACAGCTGAGGGTGCACAAGAAGAGCCACAAGTAGAACCTCTTGATCTTTCACTACCAAAGCAACAGGGAGAATTATTAGAAAGGTCAACTATCACTAGTGTTTACCAGAACAGTGTTTATTCTGTCCAGGAAGAACCCTTGAACTTGTCTTGCGCAAAAAAGGAGCCACAAAAGGACAGTTGTGTTACAGACTCAGAACCAGTTGTAAATGTAATCCCACCAAGTGCCAACCCCATAAATATCGCTATACCTACAGTCACTGCCCAGTTACCCACAATCGTGGCCATTGCTGACCAGAACAGTGTTCCATGCTTAAGAGCGCTAGCTGCCAATAAGCAAACGATTCTGATTCCCCAGGTGGCATACACCTACTCAACTACGGTCAGCCCTGCAGTCCAAGAACCACCCTTGAAAGTGATCCAGCCAAATGGAAATCAGGTAAAAAATAACCTCCATCCTGAACCTGGCTAGTAATATGCTATTTGACTAATTTCAATTAACTTTGTCTAATAAATATCAGTCCCGTAGAGCCAACTAGATTATTACAAACTGTCATTTTTAAAAGGATCAATGTTTGCTTTAACTTTTCTGGCATGATGTCTTCAGTTGGTTGTTTGCTAATCCAGGGTATTGTTACCAGCTTAAAGTTTGAAATGCTATTCTACTGAAAGATGATTTTTAAGTCCCAGCTAAAAACCTGTTTGAAGTTAGAAATCAAAAAACAAAATTGAAATACTCGCTAATTGGGTTTCTGTTTTTATAGCTAAATTCCTAAAATTAGTAATAGTTTCTGCCTTGATTATGGTCATTAATTAATGAAAATATGTTCCCATTCACAGGTTCATACCAGGCAAACTTATCTATCACTTTTATATACTAATACATCTGTTTATAAAAGGTTTTAATTAAATAAACAGGAATGAAGTATACAAAGAACGCATCTTGTGAATTTACTGATCATTTTATGAACTGTGCATAAACAGTGTTCAGTCATAATGTATATGAGGAAGTGTGGCTGTGAACCTAAAAATACATATGCATTTTCCTCCTTAACTATCACAGTGTTTACCACAACAGTGTTTATTCTGTCCAGGAAGAACCCTTGAACTGGTCTTACCCCAAAATCCACAATAGTTTTGGATAGAGCTATTGTATGCCTCATTGTCCAGACTTTTTCCATGTCACTGATGTTGATGTTTTCCCATTTTTTCCATCAATTTCTGATGGAATCAAATGAATACTAGAGACAAATTTGATATTTTATGCAAATATTTTCTATAAGTATAATAATTTCAATATCCTGCTCAAACTTGTATTTGCTGCTTTTGTTTTCCCTTAAATATTGCTATTGATTGGGTTTCCTGTAATTGTGATAACTCTTGAAAAAAAGTTCTTACGTGATCATTGAATTCCTCTAAATTTTTAGTGTACAGAACACTTTGCATGCCTTTGAATAGAAAAAGAGCCATCCTTAGCATTTCATAGACTCACGTGTCACGTGACTAGATCAAGTAGCAGTGAAAGTAGAATCAAGTTACTTCAGCACCAGGGCCACTCACAAATGACAGGGACAAATGGCTGCACCTCTCTTGCCTCATAGAGCCATAAGAAATGTTGTGAAAAACCTTCAACTTTTAGAAAATGTGTGGGTTTGAGGCAATGGCGTGGAACACTCTAGATAAGGTAGGAAGATCTTAGGGGACCCAGTTCCACAACAGGCTCCCTGCAGGGTTATTTGGCTTACATAAGAACGTGCTGCCCAAAATTATCTCCATGAGACTGCCTGGAGTTTCTAAAGGTTCAT
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TTTAAATTATAAATTAGTGAACTATAACTTAAAACTCAAAGGAAACATTAGGTTTGTAGGAAAATATTCCATTTAGCTCGGTGCTTTCAAAATTTTCTACCAAAGTATCCCTAACAGCCAAGGAGAATAAATGCCTTTTACCCCACAGAGTCTAGGGAAGCAGCTTGAGGGAAGCCTCTGCAAGCCAAAGGCTACTTTGACAGTGCGTGGCTTTTCCTAGCAAGTCACACAAATGTGTTTTTCTCTGTTTTAATATAAAAATAATGTTTTATCATATCCACTGTCACTAAAATTGAAACTCCAAGGTGCTTTGATACCCACTACAGTGTTTATCCTGGGAGTATATACATTTCAGTTTAATAAGCCAATGCTTATAGAATATCTTATATAAGTTTTCCTCCCATTAGGGAAAAACTATTTTCAAGAAAGCCCTATGGGTACAGGAATTATTATTAATCAAAGATAGATATTCATACTTGTTAAGTCATATGGGACATTTTACTTATTTTTCTTTTCTTTAATATTTCTCCTACAGATGGTTGAGTAGAGTAAAATATAGAAAATTATATAGGTCGGTGAAATGGGATAAGAAAAAACATACTTGAAAGAGTAGAATGTAATTACTTTTGATACTTGAGAATTATTTGAAGTTATAAAGATTGGTGGAAATATTATACACATATGCTGAGAAGATTCCATGATTGGTTAGCAGAACATGTACCTCAGACTTAGTTACTAGCGTTCATCACATCTATGTAGGTTTTGAAGCTAAAAAGTTTATTCTAAATACAGTTCTGTCACAAGCATGCATGGCAGTCTTCTTTTTAAAATTGATACCGCTTGTTTTAGGGAAATGAGGATACATAAAAATTTATATGTAATAATTCAGTGAATATAATTTGTTTGTTTGTTTGTTTAGGAGAGAAGCCATATGAATGCCCAAACTGCAAGAAACGCTTTTCCCATTCTGGCTCCTATAGCTCACACATAAGCAGTAAGAAATGTATCAGCTTGATACCTGTGAATGGGCGACCAAGAACAGGACTCAAGACATCTCAGTGTTCTTCACCGTCTCTTTCAGCATCACCAGGCAGTCCCACACGACCACAGATACGGCAAAAGATAGAGAATAAACCCCTTCAAGAACAACTTTCTGTTAACCAAATTAAAACTGAACCTGTGGATTATGAATTCAAACCCATAGTGGTTGCTTCAGGAATCAACTGTTCAACCCCTTTACAAAATGGGGTTTTCACTGGTGGTGGCCCATTACAGGCAACCAGTTCTCCTCAGGGCATGGTGCAAGCTGTTGTTCTGCCAACAGTTGGTTTGGTGTCTCCCATAAGTATCAATTTAAGTGATATTCAGAATGTACTTAAAGTGGCGGTAGATGGTAATGTAATAAGGCAAGTGTTGGAGAATAATCAAGCCAATCTTGCATCCAAAGAACAAGAAACAATCAATGCTTCACCCATACAACAAGGTGGCCATTCTGTTATTTCAGCCATCAGTCTTCCTTTGGTTGATCAAGATGGAACAACCAAAATTATCATCAACTACAGTCTTGAGCAGCCTAGCCAACTTCAAGTTGTTCCTCAAAATTTAAAAAAAGAAAATCCAGTCGCTACAAACAGTTGTAAAAGTGAAAAGTTACCAGAAGATCTTACTGTTAAGTCTGAGAAGGACAAAAGCTTTGAAGGGGGGGTGAATGATAGCACTTGTCTTCTGTGTGATGATTGTCCAGGAGATATTAATGCACTTCCAGAATTAAAGCACTATGACCTAAAGCAGCCTACTCAGCCTCCTCCACTCCCTGCAGCAGAAGCTGAGAAGCCTGAGTCCTCTGTTTCATCAGCTACTGGAGATGGCAATTTGTCTCCTAGTCAGCCACCTTTAAAGAACCTCTTGTCTCTCCTAAAAGCATATTATGCTTTGAATGCACAACCAAGTGCAGAAGAGCTCTCAAAAATTGCTGATTCAGTAAACCTACCACTGGATGTAGTAAAAAAGTGGTTTGAAAAGATGCAAGCTGGACAGATTTCAGTGCATTCTTCTGAACCATCTTCTCCTGAACCAGGCAAAGTAAATATCCCTGCCAAGAACAATGATCAGCCTCAATCTGCAAATGCAAATGAACCCCAGGACAGCACAGTAAATCTACAAAGTCCTTTGAAGATGACTAACTCCCCAGTTTTACCAGTGGGATCAACCACCAATGGTTCCAGAAGTAGTACACCATCCCCATCACCTCTAAACCTTTCCTCATCCAGAAATACACAGGGTTACTTGTACACAGCTGAGGGTGCACAAGAAGAGCCACAAGTAGAACCTCTTGATCTTTCACTACCAAAGCAACAGGGAGAATTATTAGAAAGGTCAACTATCACTAGTGTTTACCAGAACAGTGTTTATTCTGTCCAGGAAGAACCCTTGAACTTGTCTTGCGCAAAAAAGGAGCCACAAAAGGACAGTTGTGTTACAGACTCAGAACCAGTTGTAAATGTAATCCCACCAAGTGCCAACCCCATAAATATCGCTATACCTACAGTCACTGCCCAGTTACCCACAATCGTGGCCATTGCTGACCAGAACAGTGTTCCATGCTTAAGAGCGCTAGCTGCCAATAAGCAAACGATTCTGATTCCCCAGGTGGCATACACCTACTCAACTACGGTCAGCCCTGCAGTCCAAGAACCACCCTTGAAAGTGATCCAGCCAAATGGAAATCAGGTAAAAAATAACCTCCATCCTGAACCTGGCTAGTAATATGCTATTTGACTAATTTCAATTAACTTTGTCTAATAAATATCAGTCCCGTAGAGCCAACTAGATTATTACAAACTGTCATTTTTAAAAGGATCAATGTTTGCTTTAACTTTTCTGGCATGATGTCTTCAGTTGGTTGTTTGCTAATCCAGGGTATTGTTACCAGCTTAAAGTTTGAAATGCTATTCTACTGAAAGATGATTTTTAAGTCCCAGCTAAAAACCTGTTTGAAGTTAGAAATCAAAAAACAAAATTGAAATACTCGCTAATTGGGTTTCTGTTTTTATAGCTAAATTCCTAAAATTAGTAATAGTTTCTGCCTTGATTATGGTCATTAATTAATGAAAATATGTTCCCATTCACAGGTTCATACCAGGCAAACTTATCTATCACTTTTATATACTAATACATCTGTTTATAAAAGGTTTTAATTAAATAAACAGGAATGAAGTATACAAAGAACGCATCTTGTGAATTTACTGATCATTTTATGAACTGTGCATAAACAGTGTTCAGTCATAATGTATATGAGGAAGTGTGGCTGTGAACCTAAAAATACATATGCATTTTCCTCCTTAACTATCACAGTGTTTACCACAACAGTGTTTATTCTGTCCAGGAAGAACCCTTGAACTGGTCTTACCCCAAAATCCACAATAGTTTTGGATAGAGCTATTGTATGCCTCATTGTCCAGACTTTTTCCATGTCACTGATGTTGATGTTTTCCCATTTTTTCCATCAATTTCTGATGGAATCAAATGAATACTAGAGACAAATTTGATATTTTATGCAAATATTTTCTATAAGTATAATAATTTCAATATCCTGCTCAAACTTGTATTTGCTGCTTTTGTTTTCCCTTAAATATTGCTATTGATTGGGTTTCCTGTAATTGTGATAACTCTTGAAAAAAAGTTCTTACGTGATCATTGAATTCCTCTAAATTTTTAGTGTACAGAACACTTTGCATGCCTTTGAATAGAAAAAGAGCCATCCTTAGCATTTCATAGACTCACGTGTCACGTGACTAGATCAAGTAGCAGTGAAAGTAGAATCAAGTTACTTCAGCACCAGGGCCACTCACAAATGACAGGGACAAATGGCTGCACCTCTCTTGCCTCATAGAGCCATAAGAAATGTTGTGAAAAACCTTCAACTTTTAGAAAATGTGTGGGTTTGAGGCAATGGCGTGGAACACTCTAGATAAGGTAGGAAGATCTTAGGGGACCCAGTTCCACAACAGGCTCCCTGCAGGGTTATTTGGCTTACATAAGAACGTGCTGCCCAAAATTATCTCCATGAGACTGCCTGGAGTTTCTAAAGGTTCAT
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Task1_train_13690
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This alteration occurs within gene KIF5B (kinesin family member 5B) located on Chromosome 10. Is it associated with a disease or is it a benign variant?
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Pathogenic; Severe muscular hypotonia
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GGAAAAGAATTACTTGTTAATGACAAAAATACTGAGGATCCTTTTTTTTTTTTAATTAGAATAACTATTTGCAAAGACGACTTATTTTCAAACTGCTATGGTATAGTGGAAAAAAAAATCTAGTAGTCATGGAACCTGGATTTCATCCCTCTGCCACTAAACATAAACCATTTCCACTCTCTCTTTACACTTTTTAACTTAAATCATAATTATTTGAACATAAAATATAAGATTTGTCTAAAAAGTTGCAAATCTACAAAGCAAATCTTGAACAACATCTCTCTGGTGTTCTGCGATATGAAATAAATGTACTTTTCCATCCTAGAGATTTCTCTACATCTCACATTACTTCACCATAAACAGAATAGGGCCGAAATGTTCAGACTGATGGTGAAGGGAAAGCAAGTCAAGTGGCCCCATAGTGAGTCCACTGAAGAAATAACATATGAAGAGAAGAGTCATGAGAATCCTTGCCTCCATCAACAAACAGTAACTTTTATTTTGTTGATTTTATCTTTTATTCTTTTTGTATTTTTTAAAAATATTTTTTCTTCATTTTTAAACTGAAGAATCAGTTAACAGCAAACAGCAACATTAAACAATACAAAAGATGGAAATGTGTACTCCATATTGAAAACTTTTACGTCAGTTCCAACTCTGGTTAACAGACTGGGCTTTTTAGTAGGCTCTCAATATAAACCCAAGTGTATATGCTCTCTTTGTATTGTAATTAGGCTTTAATCAAAAAGGTAAAGTCTAAACAGCTACTGCAACATACAAATCTTTCATGTTATATGCATGGTTTTTCAGTTAAGAGTCTTAGTTTGGTTCTTTGGTCTTAGTTTTTAAATCTACCACCAAGTCAAATGCCTAATGCTAACAACCAATATTAGTATCTTTAAAAAGATTAGGACAAAGAGGTATAAAGAAAATATGGACATATTTTGAAAACTGAAAACTCTAGAGTTCATTGTATTATTCTCTCTACTATTATATGTTTGAAATTTTTCACACTAAAATAAAAAAGAATTAAGAAAGCAGTGCTCATCTTTAACTTTTCTTTAAATATTTAAAGCAACCACAAGCCCATTCATTATAAATTTATTCCCTGAGCTAATCTTTTTTTTTTTTTTTTTTCCAGATAGGGTCTCACTGTTGCTCAGGCTGGAGTGCCATGGCACAAACATGGTTCACAGCATCTTTAACCTCCTGCCTCAGTCTCTTAAAATAGCTGGGACTACAGGCATGTATCACCATGCCTACATGCTAGGCTAATTTTTAAATTTTTTGTAGGGACAAGGTCTTGCCACGTTGCCCAGGCTGGTCTCGAACTCCTGGGCTCAAGTGATCCTCCTGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCTTGAGCCACTATGTCTGGTCCGTGAACTAATCTTAATTGTTGTTCCAATCATTTCACTTATGGAAATTTATTAACGTAATTTTTAAGCACGAATTTTTTTTTTTTCTGGAGACAGCATCTTGATCTGTTGTGCAGGCTGGAGTGCAGTTGCACGATTGCAGCTCACTGCAGCCTTGACCTCCCAGGCTCAAGCAATCCTCCCACCCCAGTAGCTGGGACTACAGGCACACGCCACCATGCCAGGCTCATTTTTGTATTTTTTGTAGAGACAGGGTTTCGCCACATTGCCCAGGTTGGGGAAAATGTTATAGTAAAGAATCAAACATGAGGTCCAATAAATGCCGCCTACTGAATTTACCTATTTGGGTGCCCTTATTCTCTTGCTCTCTCCTGATCTATTTAAAATGCGGTTAATAACATCTACTACACGACTGTTTGTGAGGATGAGATCATGAATACGAAAAGAACTTTACAAACTATTAGTAGTAAACAAAAGTGCCAGTGTATACAGATAATTGTCCTTAATACTTAGTTATTATATTTACCTTTACATCATTATTTCCCACAGCAATTCCTATTTCTGCAAGGTCTTTTAGTAAAGATGCCATCATCTCAGCTGCTCGTTTTTTCTGGTGGTTGGTCATTTCCTTAAGTTTCTGAAGCTCAGCATCTATACTCGCTAAAGTTGCCTAAGAGAACCCAAAACAAAAAGTATAGTTAAATCTACTACATGAAAATTCAAATCAAATACTCATCGGTGTTTCAAGTTTTACACCAAGCCCTTACGAAACCATGTCTTTTCTGCTTTCATTTTTCTTGAACTATCTACCAGGTTCTGGGCTCCCAGCTCAAACTTAAAATATATTTTAGACCTAATAGGCTATGGTAAAAGTAGCCACATTGTTTTCAATTAAGAGCAGGCAGTTTCTGTTATTTCACTAAATTCCTGGGATTGAATAATATTTTCTGTCTAAAAATGGGAAGCCTCAAATTTAACTAGATTTGATTATCACTTATTACTATATTATGTCTTATCTTTAGAAAGTGAGTCAGCAAATTAACGTTACAATGACACTCTTTTCTAGATGGTTAGTATGCTTTCTTCATCTACTTTCTATATACTTACTCACTGGAAAGAATCCATGTGATAATACTATGATACAGGCAATTATCCAGGAGCTAGTGTTAAAGTAATATTATCTGAGTTTAATGACTATCATTATAAATCTCAAATCATAGCTGGCTTAACAGCTACAAAATCACCAAATTTTGAAAAGTCCAACCCAGTTTGGTGCCCACTTTAAAATAACTCATATGGCAGAACAGATACAAGGTGAGCATCCCCACTCCGAAGTGCTCGAAAATCTGGGACTTTTTGAGTGCTTGCATGATGCTCAAAGAAAATGCTCACTGAAGCATTTTGGACTTGCCAATTAGAAATGCTCAACTGGTAAGTATAATGCAAACATTCCAAAATCTGAAACGCTTGGGGCTTCTGTATTTGTAATGCCTGTACTATACTGTATTTGTAATGCCATTTATTGACTTTTCATCAGTATCTTTTAGTAAAGATGCCATCATTCCAACTGCTTATTTCTTATGGTAGTTCGTCATTTCCTTAAGTTTCTGAGTATCAGTAGAGTATGTATCCACCCAGGTTAATCTACAATATGATACCAATTATCTTCAAGTCTCATAATATAGCATGCTTCTACCATAATTGTTTAAATTACCAGACACTCTCTAACTGAACAGCAACACTGTCTAAGCATATAAACAGATGCTAAACACTAGGGATTTCTAACTCCTATTATCAATGTAATGCTGATAGATTTCAGCTCCACAAGTGAAACATAAATATAACTGTCTTAAAGACTAAAATCAGCGGCCAAGGACCACCTTTCAGAGTTGTAAAAAACTCCTGTTATTCTTTCATACAACAATTAGCTTTGTTAATAATGCAACTCAGTAAGAGTTAGTTATAATGGTGTCTTAGATCTGTACAGTACTGAATGTTAACTTCAAGCTAACTGTAACTTTGTAGATTAAAAAGAGAAAAGGAACTCATAGGGGCAGGAAACCTTTTAAAAGCATTATTTTGTACTGTTGACTGCTTTCTTTTAGACAAGTTAATGTGAGCAGGGAAATAAGTGGTGGACATGGGTCCTGAGTGCAACTCTAGATGCTGATTTCTAAACAAGAAGCTAGCATTAACCACAACAAAACCACAAAATAGCTCCTCCATGATGATGTTGAAACATTCATAGCTATGTATTATTTCTGTCATCATTGTTGGAGGTTGGCGATGTCTGTCCTGTATCAATTTTCAGCAAGTAAAAATCTCCATCTAGTCGCCAGGCACGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCTGAGGTGGGTGGATCACCTGAGGTCAGGAGCTCGAGACCAGCCTGGCCAACATGGTGAAACCCTGTTGCTACTAAAAATACAAAATGAGCCGGGCGTGGTGGCGGGCGCCTGTAATCCCAGCTACTCGGGAGACTGAGGCAGGAGAATCATTGAACCCAGGAGGCAGAGGATGCAGTGAGCCAAGATTGCGCCATTGCACTCCAGCCTGGGCAACCAGAGTGAAACTTTGTCTCAAAAAAAAAAAAAAAAATCTCCATCTATTGGGAACCACTACACTGTGCTAAAAAGGCACTGTTCCACGTAGTGGA
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GGAAAAGAATTACTTGTTAATGACAAAAATACTGAGGATCCTTTTTTTTTTTTAATTAGAATAACTATTTGCAAAGACGACTTATTTTCAAACTGCTATGGTATAGTGGAAAAAAAAATCTAGTAGTCATGGAACCTGGATTTCATCCCTCTGCCACTAAACATAAACCATTTCCACTCTCTCTTTACACTTTTTAACTTAAATCATAATTATTTGAACATAAAATATAAGATTTGTCTAAAAAGTTGCAAATCTACAAAGCAAATCTTGAACAACATCTCTCTGGTGTTCTGCGATATGAAATAAATGTACTTTTCCATCCTAGAGATTTCTCTACATCTCACATTACTTCACCATAAACAGAATAGGGCCGAAATGTTCAGACTGATGGTGAAGGGAAAGCAAGTCAAGTGGCCCCATAGTGAGTCCACTGAAGAAATAACATATGAAGAGAAGAGTCATGAGAATCCTTGCCTCCATCAACAAACAGTAACTTTTATTTTGTTGATTTTATCTTTTATTCTTTTTGTATTTTTTAAAAATATTTTTTCTTCATTTTTAAACTGAAGAATCAGTTAACAGCAAACAGCAACATTAAACAATACAAAAGATGGAAATGTGTACTCCATATTGAAAACTTTTACGTCAGTTCCAACTCTGGTTAACAGACTGGGCTTTTTAGTAGGCTCTCAATATAAACCCAAGTGTATATGCTCTCTTTGTATTGTAATTAGGCTTTAATCAAAAAGGTAAAGTCTAAACAGCTACTGCAACATACAAATCTTTCATGTTATATGCATGGTTTTTCAGTTAAGAGTCTTAGTTTGGTTCTTTGGTCTTAGTTTTTAAATCTACCACCAAGTCAAATGCCTAATGCTAACAACCAATATTAGTATCTTTAAAAAGATTAGGACAAAGAGGTATAAAGAAAATATGGACATATTTTGAAAACTGAAAACTCTAGAGTTCATTGTATTATTCTCTCTACTATTATATGTTTGAAATTTTTCACACTAAAATAAAAAAGAATTAAGAAAGCAGTGCTCATCTTTAACTTTTCTTTAAATATTTAAAGCAACCACAAGCCCATTCATTATAAATTTATTCCCTGAGCTAATCTTTTTTTTTTTTTTTTTTCCAGATAGGGTCTCACTGTTGCTCAGGCTGGAGTGCCATGGCACAAACATGGTTCACAGCATCTTTAACCTCCTGCCTCAGTCTCTTAAAATAGCTGGGACTACAGGCATGTATCACCATGCCTACATGCTAGGCTAATTTTTAAATTTTTTGTAGGGACAAGGTCTTGCCACGTTGCCCAGGCTGGTCTCGAACTCCTGGGCTCAAGTGATCCTCCTGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCTTGAGCCACTATGTCTGGTCCGTGAACTAATCTTAATTGTTGTTCCAATCATTTCACTTATGGAAATTTATTAACGTAATTTTTAAGCACGAATTTTTTTTTTTTCTGGAGACAGCATCTTGATCTGTTGTGCAGGCTGGAGTGCAGTTGCACGATTGCAGCTCACTGCAGCCTTGACCTCCCAGGCTCAAGCAATCCTCCCACCCCAGTAGCTGGGACTACAGGCACACGCCACCATGCCAGGCTCATTTTTGTATTTTTTGTAGAGACAGGGTTTCGCCACATTGCCCAGGTTGGGGAAAATGTTATAGTAAAGAATCAAACATGAGGTCCAATAAATGCCGCCTACTGAATTTACCTATTTGGGTGCCCTTATTCTCTTGCTCTCTCCTGATCTATTTAAAATGCGGTTAATAACATCTACTACACGACTGTTTGTGAGGATGAGATCATGAATACGAAAAGAACTTTACAAACTATTAGTAGTAAACAAAAGTGCCAGTGTATACAGATAATTGTCCTTAATACTTAGTTATTATATTTACCTTTACATCATTATTTCCCACAGCAATTCCTATTTCTGCAAGGTCTTTTAGTAAAGATGCCATCATCTCAGCTGCTCGTTTTTTCTGGTGGTTGGTCATTTCCTTAAGTTTCTGAGGCTCAGCATCTATACTCGCTAAAGTTGCCTAAGAGAACCCAAAACAAAAAGTATAGTTAAATCTACTACATGAAAATTCAAATCAAATACTCATCGGTGTTTCAAGTTTTACACCAAGCCCTTACGAAACCATGTCTTTTCTGCTTTCATTTTTCTTGAACTATCTACCAGGTTCTGGGCTCCCAGCTCAAACTTAAAATATATTTTAGACCTAATAGGCTATGGTAAAAGTAGCCACATTGTTTTCAATTAAGAGCAGGCAGTTTCTGTTATTTCACTAAATTCCTGGGATTGAATAATATTTTCTGTCTAAAAATGGGAAGCCTCAAATTTAACTAGATTTGATTATCACTTATTACTATATTATGTCTTATCTTTAGAAAGTGAGTCAGCAAATTAACGTTACAATGACACTCTTTTCTAGATGGTTAGTATGCTTTCTTCATCTACTTTCTATATACTTACTCACTGGAAAGAATCCATGTGATAATACTATGATACAGGCAATTATCCAGGAGCTAGTGTTAAAGTAATATTATCTGAGTTTAATGACTATCATTATAAATCTCAAATCATAGCTGGCTTAACAGCTACAAAATCACCAAATTTTGAAAAGTCCAACCCAGTTTGGTGCCCACTTTAAAATAACTCATATGGCAGAACAGATACAAGGTGAGCATCCCCACTCCGAAGTGCTCGAAAATCTGGGACTTTTTGAGTGCTTGCATGATGCTCAAAGAAAATGCTCACTGAAGCATTTTGGACTTGCCAATTAGAAATGCTCAACTGGTAAGTATAATGCAAACATTCCAAAATCTGAAACGCTTGGGGCTTCTGTATTTGTAATGCCTGTACTATACTGTATTTGTAATGCCATTTATTGACTTTTCATCAGTATCTTTTAGTAAAGATGCCATCATTCCAACTGCTTATTTCTTATGGTAGTTCGTCATTTCCTTAAGTTTCTGAGTATCAGTAGAGTATGTATCCACCCAGGTTAATCTACAATATGATACCAATTATCTTCAAGTCTCATAATATAGCATGCTTCTACCATAATTGTTTAAATTACCAGACACTCTCTAACTGAACAGCAACACTGTCTAAGCATATAAACAGATGCTAAACACTAGGGATTTCTAACTCCTATTATCAATGTAATGCTGATAGATTTCAGCTCCACAAGTGAAACATAAATATAACTGTCTTAAAGACTAAAATCAGCGGCCAAGGACCACCTTTCAGAGTTGTAAAAAACTCCTGTTATTCTTTCATACAACAATTAGCTTTGTTAATAATGCAACTCAGTAAGAGTTAGTTATAATGGTGTCTTAGATCTGTACAGTACTGAATGTTAACTTCAAGCTAACTGTAACTTTGTAGATTAAAAAGAGAAAAGGAACTCATAGGGGCAGGAAACCTTTTAAAAGCATTATTTTGTACTGTTGACTGCTTTCTTTTAGACAAGTTAATGTGAGCAGGGAAATAAGTGGTGGACATGGGTCCTGAGTGCAACTCTAGATGCTGATTTCTAAACAAGAAGCTAGCATTAACCACAACAAAACCACAAAATAGCTCCTCCATGATGATGTTGAAACATTCATAGCTATGTATTATTTCTGTCATCATTGTTGGAGGTTGGCGATGTCTGTCCTGTATCAATTTTCAGCAAGTAAAAATCTCCATCTAGTCGCCAGGCACGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCTGAGGTGGGTGGATCACCTGAGGTCAGGAGCTCGAGACCAGCCTGGCCAACATGGTGAAACCCTGTTGCTACTAAAAATACAAAATGAGCCGGGCGTGGTGGCGGGCGCCTGTAATCCCAGCTACTCGGGAGACTGAGGCAGGAGAATCATTGAACCCAGGAGGCAGAGGATGCAGTGAGCCAAGATTGCGCCATTGCACTCCAGCCTGGGCAACCAGAGTGAAACTTTGTCTCAAAAAAAAAAAAAAAAATCTCCATCTATTGGGAACCACTACACTGTGCTAAAAAGGCACTGTTCCACGTAGTGGA
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Task1_train_13691
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Given this context: Chromosome 10, gene KIF5B (kinesin family member 5B) — does this variant present pathogenic behavior, and if so, what disease does it relate to?
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Pathogenic; Global developmental delay
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GGAAAAGAATTACTTGTTAATGACAAAAATACTGAGGATCCTTTTTTTTTTTTAATTAGAATAACTATTTGCAAAGACGACTTATTTTCAAACTGCTATGGTATAGTGGAAAAAAAAATCTAGTAGTCATGGAACCTGGATTTCATCCCTCTGCCACTAAACATAAACCATTTCCACTCTCTCTTTACACTTTTTAACTTAAATCATAATTATTTGAACATAAAATATAAGATTTGTCTAAAAAGTTGCAAATCTACAAAGCAAATCTTGAACAACATCTCTCTGGTGTTCTGCGATATGAAATAAATGTACTTTTCCATCCTAGAGATTTCTCTACATCTCACATTACTTCACCATAAACAGAATAGGGCCGAAATGTTCAGACTGATGGTGAAGGGAAAGCAAGTCAAGTGGCCCCATAGTGAGTCCACTGAAGAAATAACATATGAAGAGAAGAGTCATGAGAATCCTTGCCTCCATCAACAAACAGTAACTTTTATTTTGTTGATTTTATCTTTTATTCTTTTTGTATTTTTTAAAAATATTTTTTCTTCATTTTTAAACTGAAGAATCAGTTAACAGCAAACAGCAACATTAAACAATACAAAAGATGGAAATGTGTACTCCATATTGAAAACTTTTACGTCAGTTCCAACTCTGGTTAACAGACTGGGCTTTTTAGTAGGCTCTCAATATAAACCCAAGTGTATATGCTCTCTTTGTATTGTAATTAGGCTTTAATCAAAAAGGTAAAGTCTAAACAGCTACTGCAACATACAAATCTTTCATGTTATATGCATGGTTTTTCAGTTAAGAGTCTTAGTTTGGTTCTTTGGTCTTAGTTTTTAAATCTACCACCAAGTCAAATGCCTAATGCTAACAACCAATATTAGTATCTTTAAAAAGATTAGGACAAAGAGGTATAAAGAAAATATGGACATATTTTGAAAACTGAAAACTCTAGAGTTCATTGTATTATTCTCTCTACTATTATATGTTTGAAATTTTTCACACTAAAATAAAAAAGAATTAAGAAAGCAGTGCTCATCTTTAACTTTTCTTTAAATATTTAAAGCAACCACAAGCCCATTCATTATAAATTTATTCCCTGAGCTAATCTTTTTTTTTTTTTTTTTTCCAGATAGGGTCTCACTGTTGCTCAGGCTGGAGTGCCATGGCACAAACATGGTTCACAGCATCTTTAACCTCCTGCCTCAGTCTCTTAAAATAGCTGGGACTACAGGCATGTATCACCATGCCTACATGCTAGGCTAATTTTTAAATTTTTTGTAGGGACAAGGTCTTGCCACGTTGCCCAGGCTGGTCTCGAACTCCTGGGCTCAAGTGATCCTCCTGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCTTGAGCCACTATGTCTGGTCCGTGAACTAATCTTAATTGTTGTTCCAATCATTTCACTTATGGAAATTTATTAACGTAATTTTTAAGCACGAATTTTTTTTTTTTCTGGAGACAGCATCTTGATCTGTTGTGCAGGCTGGAGTGCAGTTGCACGATTGCAGCTCACTGCAGCCTTGACCTCCCAGGCTCAAGCAATCCTCCCACCCCAGTAGCTGGGACTACAGGCACACGCCACCATGCCAGGCTCATTTTTGTATTTTTTGTAGAGACAGGGTTTCGCCACATTGCCCAGGTTGGGGAAAATGTTATAGTAAAGAATCAAACATGAGGTCCAATAAATGCCGCCTACTGAATTTACCTATTTGGGTGCCCTTATTCTCTTGCTCTCTCCTGATCTATTTAAAATGCGGTTAATAACATCTACTACACGACTGTTTGTGAGGATGAGATCATGAATACGAAAAGAACTTTACAAACTATTAGTAGTAAACAAAAGTGCCAGTGTATACAGATAATTGTCCTTAATACTTAGTTATTATATTTACCTTTACATCATTATTTCCCACAGCAATTCCTATTTCTGCAAGGTCTTTTAGTAAAGATGCCATCATCTCAGCTGCTCGTTTTTTCTGGTGGTTGGTCATTTCCTTAAGTTTCTGAAGCTCAGCATCTATACTCGCTAAAGTTGCCTAAGAGAACCCAAAACAAAAAGTATAGTTAAATCTACTACATGAAAATTCAAATCAAATACTCATCGGTGTTTCAAGTTTTACACCAAGCCCTTACGAAACCATGTCTTTTCTGCTTTCATTTTTCTTGAACTATCTACCAGGTTCTGGGCTCCCAGCTCAAACTTAAAATATATTTTAGACCTAATAGGCTATGGTAAAAGTAGCCACATTGTTTTCAATTAAGAGCAGGCAGTTTCTGTTATTTCACTAAATTCCTGGGATTGAATAATATTTTCTGTCTAAAAATGGGAAGCCTCAAATTTAACTAGATTTGATTATCACTTATTACTATATTATGTCTTATCTTTAGAAAGTGAGTCAGCAAATTAACGTTACAATGACACTCTTTTCTAGATGGTTAGTATGCTTTCTTCATCTACTTTCTATATACTTACTCACTGGAAAGAATCCATGTGATAATACTATGATACAGGCAATTATCCAGGAGCTAGTGTTAAAGTAATATTATCTGAGTTTAATGACTATCATTATAAATCTCAAATCATAGCTGGCTTAACAGCTACAAAATCACCAAATTTTGAAAAGTCCAACCCAGTTTGGTGCCCACTTTAAAATAACTCATATGGCAGAACAGATACAAGGTGAGCATCCCCACTCCGAAGTGCTCGAAAATCTGGGACTTTTTGAGTGCTTGCATGATGCTCAAAGAAAATGCTCACTGAAGCATTTTGGACTTGCCAATTAGAAATGCTCAACTGGTAAGTATAATGCAAACATTCCAAAATCTGAAACGCTTGGGGCTTCTGTATTTGTAATGCCTGTACTATACTGTATTTGTAATGCCATTTATTGACTTTTCATCAGTATCTTTTAGTAAAGATGCCATCATTCCAACTGCTTATTTCTTATGGTAGTTCGTCATTTCCTTAAGTTTCTGAGTATCAGTAGAGTATGTATCCACCCAGGTTAATCTACAATATGATACCAATTATCTTCAAGTCTCATAATATAGCATGCTTCTACCATAATTGTTTAAATTACCAGACACTCTCTAACTGAACAGCAACACTGTCTAAGCATATAAACAGATGCTAAACACTAGGGATTTCTAACTCCTATTATCAATGTAATGCTGATAGATTTCAGCTCCACAAGTGAAACATAAATATAACTGTCTTAAAGACTAAAATCAGCGGCCAAGGACCACCTTTCAGAGTTGTAAAAAACTCCTGTTATTCTTTCATACAACAATTAGCTTTGTTAATAATGCAACTCAGTAAGAGTTAGTTATAATGGTGTCTTAGATCTGTACAGTACTGAATGTTAACTTCAAGCTAACTGTAACTTTGTAGATTAAAAAGAGAAAAGGAACTCATAGGGGCAGGAAACCTTTTAAAAGCATTATTTTGTACTGTTGACTGCTTTCTTTTAGACAAGTTAATGTGAGCAGGGAAATAAGTGGTGGACATGGGTCCTGAGTGCAACTCTAGATGCTGATTTCTAAACAAGAAGCTAGCATTAACCACAACAAAACCACAAAATAGCTCCTCCATGATGATGTTGAAACATTCATAGCTATGTATTATTTCTGTCATCATTGTTGGAGGTTGGCGATGTCTGTCCTGTATCAATTTTCAGCAAGTAAAAATCTCCATCTAGTCGCCAGGCACGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCTGAGGTGGGTGGATCACCTGAGGTCAGGAGCTCGAGACCAGCCTGGCCAACATGGTGAAACCCTGTTGCTACTAAAAATACAAAATGAGCCGGGCGTGGTGGCGGGCGCCTGTAATCCCAGCTACTCGGGAGACTGAGGCAGGAGAATCATTGAACCCAGGAGGCAGAGGATGCAGTGAGCCAAGATTGCGCCATTGCACTCCAGCCTGGGCAACCAGAGTGAAACTTTGTCTCAAAAAAAAAAAAAAAAATCTCCATCTATTGGGAACCACTACACTGTGCTAAAAAGGCACTGTTCCACGTAGTGGA
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GGAAAAGAATTACTTGTTAATGACAAAAATACTGAGGATCCTTTTTTTTTTTTAATTAGAATAACTATTTGCAAAGACGACTTATTTTCAAACTGCTATGGTATAGTGGAAAAAAAAATCTAGTAGTCATGGAACCTGGATTTCATCCCTCTGCCACTAAACATAAACCATTTCCACTCTCTCTTTACACTTTTTAACTTAAATCATAATTATTTGAACATAAAATATAAGATTTGTCTAAAAAGTTGCAAATCTACAAAGCAAATCTTGAACAACATCTCTCTGGTGTTCTGCGATATGAAATAAATGTACTTTTCCATCCTAGAGATTTCTCTACATCTCACATTACTTCACCATAAACAGAATAGGGCCGAAATGTTCAGACTGATGGTGAAGGGAAAGCAAGTCAAGTGGCCCCATAGTGAGTCCACTGAAGAAATAACATATGAAGAGAAGAGTCATGAGAATCCTTGCCTCCATCAACAAACAGTAACTTTTATTTTGTTGATTTTATCTTTTATTCTTTTTGTATTTTTTAAAAATATTTTTTCTTCATTTTTAAACTGAAGAATCAGTTAACAGCAAACAGCAACATTAAACAATACAAAAGATGGAAATGTGTACTCCATATTGAAAACTTTTACGTCAGTTCCAACTCTGGTTAACAGACTGGGCTTTTTAGTAGGCTCTCAATATAAACCCAAGTGTATATGCTCTCTTTGTATTGTAATTAGGCTTTAATCAAAAAGGTAAAGTCTAAACAGCTACTGCAACATACAAATCTTTCATGTTATATGCATGGTTTTTCAGTTAAGAGTCTTAGTTTGGTTCTTTGGTCTTAGTTTTTAAATCTACCACCAAGTCAAATGCCTAATGCTAACAACCAATATTAGTATCTTTAAAAAGATTAGGACAAAGAGGTATAAAGAAAATATGGACATATTTTGAAAACTGAAAACTCTAGAGTTCATTGTATTATTCTCTCTACTATTATATGTTTGAAATTTTTCACACTAAAATAAAAAAGAATTAAGAAAGCAGTGCTCATCTTTAACTTTTCTTTAAATATTTAAAGCAACCACAAGCCCATTCATTATAAATTTATTCCCTGAGCTAATCTTTTTTTTTTTTTTTTTTCCAGATAGGGTCTCACTGTTGCTCAGGCTGGAGTGCCATGGCACAAACATGGTTCACAGCATCTTTAACCTCCTGCCTCAGTCTCTTAAAATAGCTGGGACTACAGGCATGTATCACCATGCCTACATGCTAGGCTAATTTTTAAATTTTTTGTAGGGACAAGGTCTTGCCACGTTGCCCAGGCTGGTCTCGAACTCCTGGGCTCAAGTGATCCTCCTGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCTTGAGCCACTATGTCTGGTCCGTGAACTAATCTTAATTGTTGTTCCAATCATTTCACTTATGGAAATTTATTAACGTAATTTTTAAGCACGAATTTTTTTTTTTTCTGGAGACAGCATCTTGATCTGTTGTGCAGGCTGGAGTGCAGTTGCACGATTGCAGCTCACTGCAGCCTTGACCTCCCAGGCTCAAGCAATCCTCCCACCCCAGTAGCTGGGACTACAGGCACACGCCACCATGCCAGGCTCATTTTTGTATTTTTTGTAGAGACAGGGTTTCGCCACATTGCCCAGGTTGGGGAAAATGTTATAGTAAAGAATCAAACATGAGGTCCAATAAATGCCGCCTACTGAATTTACCTATTTGGGTGCCCTTATTCTCTTGCTCTCTCCTGATCTATTTAAAATGCGGTTAATAACATCTACTACACGACTGTTTGTGAGGATGAGATCATGAATACGAAAAGAACTTTACAAACTATTAGTAGTAAACAAAAGTGCCAGTGTATACAGATAATTGTCCTTAATACTTAGTTATTATATTTACCTTTACATCATTATTTCCCACAGCAATTCCTATTTCTGCAAGGTCTTTTAGTAAAGATGCCATCATCTCAGCTGCTCGTTTTTTCTGGTGGTTGGTCATTTCCTTAAGTTTCTGAGGCTCAGCATCTATACTCGCTAAAGTTGCCTAAGAGAACCCAAAACAAAAAGTATAGTTAAATCTACTACATGAAAATTCAAATCAAATACTCATCGGTGTTTCAAGTTTTACACCAAGCCCTTACGAAACCATGTCTTTTCTGCTTTCATTTTTCTTGAACTATCTACCAGGTTCTGGGCTCCCAGCTCAAACTTAAAATATATTTTAGACCTAATAGGCTATGGTAAAAGTAGCCACATTGTTTTCAATTAAGAGCAGGCAGTTTCTGTTATTTCACTAAATTCCTGGGATTGAATAATATTTTCTGTCTAAAAATGGGAAGCCTCAAATTTAACTAGATTTGATTATCACTTATTACTATATTATGTCTTATCTTTAGAAAGTGAGTCAGCAAATTAACGTTACAATGACACTCTTTTCTAGATGGTTAGTATGCTTTCTTCATCTACTTTCTATATACTTACTCACTGGAAAGAATCCATGTGATAATACTATGATACAGGCAATTATCCAGGAGCTAGTGTTAAAGTAATATTATCTGAGTTTAATGACTATCATTATAAATCTCAAATCATAGCTGGCTTAACAGCTACAAAATCACCAAATTTTGAAAAGTCCAACCCAGTTTGGTGCCCACTTTAAAATAACTCATATGGCAGAACAGATACAAGGTGAGCATCCCCACTCCGAAGTGCTCGAAAATCTGGGACTTTTTGAGTGCTTGCATGATGCTCAAAGAAAATGCTCACTGAAGCATTTTGGACTTGCCAATTAGAAATGCTCAACTGGTAAGTATAATGCAAACATTCCAAAATCTGAAACGCTTGGGGCTTCTGTATTTGTAATGCCTGTACTATACTGTATTTGTAATGCCATTTATTGACTTTTCATCAGTATCTTTTAGTAAAGATGCCATCATTCCAACTGCTTATTTCTTATGGTAGTTCGTCATTTCCTTAAGTTTCTGAGTATCAGTAGAGTATGTATCCACCCAGGTTAATCTACAATATGATACCAATTATCTTCAAGTCTCATAATATAGCATGCTTCTACCATAATTGTTTAAATTACCAGACACTCTCTAACTGAACAGCAACACTGTCTAAGCATATAAACAGATGCTAAACACTAGGGATTTCTAACTCCTATTATCAATGTAATGCTGATAGATTTCAGCTCCACAAGTGAAACATAAATATAACTGTCTTAAAGACTAAAATCAGCGGCCAAGGACCACCTTTCAGAGTTGTAAAAAACTCCTGTTATTCTTTCATACAACAATTAGCTTTGTTAATAATGCAACTCAGTAAGAGTTAGTTATAATGGTGTCTTAGATCTGTACAGTACTGAATGTTAACTTCAAGCTAACTGTAACTTTGTAGATTAAAAAGAGAAAAGGAACTCATAGGGGCAGGAAACCTTTTAAAAGCATTATTTTGTACTGTTGACTGCTTTCTTTTAGACAAGTTAATGTGAGCAGGGAAATAAGTGGTGGACATGGGTCCTGAGTGCAACTCTAGATGCTGATTTCTAAACAAGAAGCTAGCATTAACCACAACAAAACCACAAAATAGCTCCTCCATGATGATGTTGAAACATTCATAGCTATGTATTATTTCTGTCATCATTGTTGGAGGTTGGCGATGTCTGTCCTGTATCAATTTTCAGCAAGTAAAAATCTCCATCTAGTCGCCAGGCACGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCTGAGGTGGGTGGATCACCTGAGGTCAGGAGCTCGAGACCAGCCTGGCCAACATGGTGAAACCCTGTTGCTACTAAAAATACAAAATGAGCCGGGCGTGGTGGCGGGCGCCTGTAATCCCAGCTACTCGGGAGACTGAGGCAGGAGAATCATTGAACCCAGGAGGCAGAGGATGCAGTGAGCCAAGATTGCGCCATTGCACTCCAGCCTGGGCAACCAGAGTGAAACTTTGTCTCAAAAAAAAAAAAAAAAATCTCCATCTATTGGGAACCACTACACTGTGCTAAAAAGGCACTGTTCCACGTAGTGGA
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Task1_train_13692
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This is a variant in KIF5B (kinesin family member 5B), located on Chromosome 10. Is this mutation a likely cause of disease or not?
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Pathogenic; Intellectual disability
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GGAAAAGAATTACTTGTTAATGACAAAAATACTGAGGATCCTTTTTTTTTTTTAATTAGAATAACTATTTGCAAAGACGACTTATTTTCAAACTGCTATGGTATAGTGGAAAAAAAAATCTAGTAGTCATGGAACCTGGATTTCATCCCTCTGCCACTAAACATAAACCATTTCCACTCTCTCTTTACACTTTTTAACTTAAATCATAATTATTTGAACATAAAATATAAGATTTGTCTAAAAAGTTGCAAATCTACAAAGCAAATCTTGAACAACATCTCTCTGGTGTTCTGCGATATGAAATAAATGTACTTTTCCATCCTAGAGATTTCTCTACATCTCACATTACTTCACCATAAACAGAATAGGGCCGAAATGTTCAGACTGATGGTGAAGGGAAAGCAAGTCAAGTGGCCCCATAGTGAGTCCACTGAAGAAATAACATATGAAGAGAAGAGTCATGAGAATCCTTGCCTCCATCAACAAACAGTAACTTTTATTTTGTTGATTTTATCTTTTATTCTTTTTGTATTTTTTAAAAATATTTTTTCTTCATTTTTAAACTGAAGAATCAGTTAACAGCAAACAGCAACATTAAACAATACAAAAGATGGAAATGTGTACTCCATATTGAAAACTTTTACGTCAGTTCCAACTCTGGTTAACAGACTGGGCTTTTTAGTAGGCTCTCAATATAAACCCAAGTGTATATGCTCTCTTTGTATTGTAATTAGGCTTTAATCAAAAAGGTAAAGTCTAAACAGCTACTGCAACATACAAATCTTTCATGTTATATGCATGGTTTTTCAGTTAAGAGTCTTAGTTTGGTTCTTTGGTCTTAGTTTTTAAATCTACCACCAAGTCAAATGCCTAATGCTAACAACCAATATTAGTATCTTTAAAAAGATTAGGACAAAGAGGTATAAAGAAAATATGGACATATTTTGAAAACTGAAAACTCTAGAGTTCATTGTATTATTCTCTCTACTATTATATGTTTGAAATTTTTCACACTAAAATAAAAAAGAATTAAGAAAGCAGTGCTCATCTTTAACTTTTCTTTAAATATTTAAAGCAACCACAAGCCCATTCATTATAAATTTATTCCCTGAGCTAATCTTTTTTTTTTTTTTTTTTCCAGATAGGGTCTCACTGTTGCTCAGGCTGGAGTGCCATGGCACAAACATGGTTCACAGCATCTTTAACCTCCTGCCTCAGTCTCTTAAAATAGCTGGGACTACAGGCATGTATCACCATGCCTACATGCTAGGCTAATTTTTAAATTTTTTGTAGGGACAAGGTCTTGCCACGTTGCCCAGGCTGGTCTCGAACTCCTGGGCTCAAGTGATCCTCCTGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCTTGAGCCACTATGTCTGGTCCGTGAACTAATCTTAATTGTTGTTCCAATCATTTCACTTATGGAAATTTATTAACGTAATTTTTAAGCACGAATTTTTTTTTTTTCTGGAGACAGCATCTTGATCTGTTGTGCAGGCTGGAGTGCAGTTGCACGATTGCAGCTCACTGCAGCCTTGACCTCCCAGGCTCAAGCAATCCTCCCACCCCAGTAGCTGGGACTACAGGCACACGCCACCATGCCAGGCTCATTTTTGTATTTTTTGTAGAGACAGGGTTTCGCCACATTGCCCAGGTTGGGGAAAATGTTATAGTAAAGAATCAAACATGAGGTCCAATAAATGCCGCCTACTGAATTTACCTATTTGGGTGCCCTTATTCTCTTGCTCTCTCCTGATCTATTTAAAATGCGGTTAATAACATCTACTACACGACTGTTTGTGAGGATGAGATCATGAATACGAAAAGAACTTTACAAACTATTAGTAGTAAACAAAAGTGCCAGTGTATACAGATAATTGTCCTTAATACTTAGTTATTATATTTACCTTTACATCATTATTTCCCACAGCAATTCCTATTTCTGCAAGGTCTTTTAGTAAAGATGCCATCATCTCAGCTGCTCGTTTTTTCTGGTGGTTGGTCATTTCCTTAAGTTTCTGAAGCTCAGCATCTATACTCGCTAAAGTTGCCTAAGAGAACCCAAAACAAAAAGTATAGTTAAATCTACTACATGAAAATTCAAATCAAATACTCATCGGTGTTTCAAGTTTTACACCAAGCCCTTACGAAACCATGTCTTTTCTGCTTTCATTTTTCTTGAACTATCTACCAGGTTCTGGGCTCCCAGCTCAAACTTAAAATATATTTTAGACCTAATAGGCTATGGTAAAAGTAGCCACATTGTTTTCAATTAAGAGCAGGCAGTTTCTGTTATTTCACTAAATTCCTGGGATTGAATAATATTTTCTGTCTAAAAATGGGAAGCCTCAAATTTAACTAGATTTGATTATCACTTATTACTATATTATGTCTTATCTTTAGAAAGTGAGTCAGCAAATTAACGTTACAATGACACTCTTTTCTAGATGGTTAGTATGCTTTCTTCATCTACTTTCTATATACTTACTCACTGGAAAGAATCCATGTGATAATACTATGATACAGGCAATTATCCAGGAGCTAGTGTTAAAGTAATATTATCTGAGTTTAATGACTATCATTATAAATCTCAAATCATAGCTGGCTTAACAGCTACAAAATCACCAAATTTTGAAAAGTCCAACCCAGTTTGGTGCCCACTTTAAAATAACTCATATGGCAGAACAGATACAAGGTGAGCATCCCCACTCCGAAGTGCTCGAAAATCTGGGACTTTTTGAGTGCTTGCATGATGCTCAAAGAAAATGCTCACTGAAGCATTTTGGACTTGCCAATTAGAAATGCTCAACTGGTAAGTATAATGCAAACATTCCAAAATCTGAAACGCTTGGGGCTTCTGTATTTGTAATGCCTGTACTATACTGTATTTGTAATGCCATTTATTGACTTTTCATCAGTATCTTTTAGTAAAGATGCCATCATTCCAACTGCTTATTTCTTATGGTAGTTCGTCATTTCCTTAAGTTTCTGAGTATCAGTAGAGTATGTATCCACCCAGGTTAATCTACAATATGATACCAATTATCTTCAAGTCTCATAATATAGCATGCTTCTACCATAATTGTTTAAATTACCAGACACTCTCTAACTGAACAGCAACACTGTCTAAGCATATAAACAGATGCTAAACACTAGGGATTTCTAACTCCTATTATCAATGTAATGCTGATAGATTTCAGCTCCACAAGTGAAACATAAATATAACTGTCTTAAAGACTAAAATCAGCGGCCAAGGACCACCTTTCAGAGTTGTAAAAAACTCCTGTTATTCTTTCATACAACAATTAGCTTTGTTAATAATGCAACTCAGTAAGAGTTAGTTATAATGGTGTCTTAGATCTGTACAGTACTGAATGTTAACTTCAAGCTAACTGTAACTTTGTAGATTAAAAAGAGAAAAGGAACTCATAGGGGCAGGAAACCTTTTAAAAGCATTATTTTGTACTGTTGACTGCTTTCTTTTAGACAAGTTAATGTGAGCAGGGAAATAAGTGGTGGACATGGGTCCTGAGTGCAACTCTAGATGCTGATTTCTAAACAAGAAGCTAGCATTAACCACAACAAAACCACAAAATAGCTCCTCCATGATGATGTTGAAACATTCATAGCTATGTATTATTTCTGTCATCATTGTTGGAGGTTGGCGATGTCTGTCCTGTATCAATTTTCAGCAAGTAAAAATCTCCATCTAGTCGCCAGGCACGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCTGAGGTGGGTGGATCACCTGAGGTCAGGAGCTCGAGACCAGCCTGGCCAACATGGTGAAACCCTGTTGCTACTAAAAATACAAAATGAGCCGGGCGTGGTGGCGGGCGCCTGTAATCCCAGCTACTCGGGAGACTGAGGCAGGAGAATCATTGAACCCAGGAGGCAGAGGATGCAGTGAGCCAAGATTGCGCCATTGCACTCCAGCCTGGGCAACCAGAGTGAAACTTTGTCTCAAAAAAAAAAAAAAAAATCTCCATCTATTGGGAACCACTACACTGTGCTAAAAAGGCACTGTTCCACGTAGTGGA
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GGAAAAGAATTACTTGTTAATGACAAAAATACTGAGGATCCTTTTTTTTTTTTAATTAGAATAACTATTTGCAAAGACGACTTATTTTCAAACTGCTATGGTATAGTGGAAAAAAAAATCTAGTAGTCATGGAACCTGGATTTCATCCCTCTGCCACTAAACATAAACCATTTCCACTCTCTCTTTACACTTTTTAACTTAAATCATAATTATTTGAACATAAAATATAAGATTTGTCTAAAAAGTTGCAAATCTACAAAGCAAATCTTGAACAACATCTCTCTGGTGTTCTGCGATATGAAATAAATGTACTTTTCCATCCTAGAGATTTCTCTACATCTCACATTACTTCACCATAAACAGAATAGGGCCGAAATGTTCAGACTGATGGTGAAGGGAAAGCAAGTCAAGTGGCCCCATAGTGAGTCCACTGAAGAAATAACATATGAAGAGAAGAGTCATGAGAATCCTTGCCTCCATCAACAAACAGTAACTTTTATTTTGTTGATTTTATCTTTTATTCTTTTTGTATTTTTTAAAAATATTTTTTCTTCATTTTTAAACTGAAGAATCAGTTAACAGCAAACAGCAACATTAAACAATACAAAAGATGGAAATGTGTACTCCATATTGAAAACTTTTACGTCAGTTCCAACTCTGGTTAACAGACTGGGCTTTTTAGTAGGCTCTCAATATAAACCCAAGTGTATATGCTCTCTTTGTATTGTAATTAGGCTTTAATCAAAAAGGTAAAGTCTAAACAGCTACTGCAACATACAAATCTTTCATGTTATATGCATGGTTTTTCAGTTAAGAGTCTTAGTTTGGTTCTTTGGTCTTAGTTTTTAAATCTACCACCAAGTCAAATGCCTAATGCTAACAACCAATATTAGTATCTTTAAAAAGATTAGGACAAAGAGGTATAAAGAAAATATGGACATATTTTGAAAACTGAAAACTCTAGAGTTCATTGTATTATTCTCTCTACTATTATATGTTTGAAATTTTTCACACTAAAATAAAAAAGAATTAAGAAAGCAGTGCTCATCTTTAACTTTTCTTTAAATATTTAAAGCAACCACAAGCCCATTCATTATAAATTTATTCCCTGAGCTAATCTTTTTTTTTTTTTTTTTTCCAGATAGGGTCTCACTGTTGCTCAGGCTGGAGTGCCATGGCACAAACATGGTTCACAGCATCTTTAACCTCCTGCCTCAGTCTCTTAAAATAGCTGGGACTACAGGCATGTATCACCATGCCTACATGCTAGGCTAATTTTTAAATTTTTTGTAGGGACAAGGTCTTGCCACGTTGCCCAGGCTGGTCTCGAACTCCTGGGCTCAAGTGATCCTCCTGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCTTGAGCCACTATGTCTGGTCCGTGAACTAATCTTAATTGTTGTTCCAATCATTTCACTTATGGAAATTTATTAACGTAATTTTTAAGCACGAATTTTTTTTTTTTCTGGAGACAGCATCTTGATCTGTTGTGCAGGCTGGAGTGCAGTTGCACGATTGCAGCTCACTGCAGCCTTGACCTCCCAGGCTCAAGCAATCCTCCCACCCCAGTAGCTGGGACTACAGGCACACGCCACCATGCCAGGCTCATTTTTGTATTTTTTGTAGAGACAGGGTTTCGCCACATTGCCCAGGTTGGGGAAAATGTTATAGTAAAGAATCAAACATGAGGTCCAATAAATGCCGCCTACTGAATTTACCTATTTGGGTGCCCTTATTCTCTTGCTCTCTCCTGATCTATTTAAAATGCGGTTAATAACATCTACTACACGACTGTTTGTGAGGATGAGATCATGAATACGAAAAGAACTTTACAAACTATTAGTAGTAAACAAAAGTGCCAGTGTATACAGATAATTGTCCTTAATACTTAGTTATTATATTTACCTTTACATCATTATTTCCCACAGCAATTCCTATTTCTGCAAGGTCTTTTAGTAAAGATGCCATCATCTCAGCTGCTCGTTTTTTCTGGTGGTTGGTCATTTCCTTAAGTTTCTGAGGCTCAGCATCTATACTCGCTAAAGTTGCCTAAGAGAACCCAAAACAAAAAGTATAGTTAAATCTACTACATGAAAATTCAAATCAAATACTCATCGGTGTTTCAAGTTTTACACCAAGCCCTTACGAAACCATGTCTTTTCTGCTTTCATTTTTCTTGAACTATCTACCAGGTTCTGGGCTCCCAGCTCAAACTTAAAATATATTTTAGACCTAATAGGCTATGGTAAAAGTAGCCACATTGTTTTCAATTAAGAGCAGGCAGTTTCTGTTATTTCACTAAATTCCTGGGATTGAATAATATTTTCTGTCTAAAAATGGGAAGCCTCAAATTTAACTAGATTTGATTATCACTTATTACTATATTATGTCTTATCTTTAGAAAGTGAGTCAGCAAATTAACGTTACAATGACACTCTTTTCTAGATGGTTAGTATGCTTTCTTCATCTACTTTCTATATACTTACTCACTGGAAAGAATCCATGTGATAATACTATGATACAGGCAATTATCCAGGAGCTAGTGTTAAAGTAATATTATCTGAGTTTAATGACTATCATTATAAATCTCAAATCATAGCTGGCTTAACAGCTACAAAATCACCAAATTTTGAAAAGTCCAACCCAGTTTGGTGCCCACTTTAAAATAACTCATATGGCAGAACAGATACAAGGTGAGCATCCCCACTCCGAAGTGCTCGAAAATCTGGGACTTTTTGAGTGCTTGCATGATGCTCAAAGAAAATGCTCACTGAAGCATTTTGGACTTGCCAATTAGAAATGCTCAACTGGTAAGTATAATGCAAACATTCCAAAATCTGAAACGCTTGGGGCTTCTGTATTTGTAATGCCTGTACTATACTGTATTTGTAATGCCATTTATTGACTTTTCATCAGTATCTTTTAGTAAAGATGCCATCATTCCAACTGCTTATTTCTTATGGTAGTTCGTCATTTCCTTAAGTTTCTGAGTATCAGTAGAGTATGTATCCACCCAGGTTAATCTACAATATGATACCAATTATCTTCAAGTCTCATAATATAGCATGCTTCTACCATAATTGTTTAAATTACCAGACACTCTCTAACTGAACAGCAACACTGTCTAAGCATATAAACAGATGCTAAACACTAGGGATTTCTAACTCCTATTATCAATGTAATGCTGATAGATTTCAGCTCCACAAGTGAAACATAAATATAACTGTCTTAAAGACTAAAATCAGCGGCCAAGGACCACCTTTCAGAGTTGTAAAAAACTCCTGTTATTCTTTCATACAACAATTAGCTTTGTTAATAATGCAACTCAGTAAGAGTTAGTTATAATGGTGTCTTAGATCTGTACAGTACTGAATGTTAACTTCAAGCTAACTGTAACTTTGTAGATTAAAAAGAGAAAAGGAACTCATAGGGGCAGGAAACCTTTTAAAAGCATTATTTTGTACTGTTGACTGCTTTCTTTTAGACAAGTTAATGTGAGCAGGGAAATAAGTGGTGGACATGGGTCCTGAGTGCAACTCTAGATGCTGATTTCTAAACAAGAAGCTAGCATTAACCACAACAAAACCACAAAATAGCTCCTCCATGATGATGTTGAAACATTCATAGCTATGTATTATTTCTGTCATCATTGTTGGAGGTTGGCGATGTCTGTCCTGTATCAATTTTCAGCAAGTAAAAATCTCCATCTAGTCGCCAGGCACGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCTGAGGTGGGTGGATCACCTGAGGTCAGGAGCTCGAGACCAGCCTGGCCAACATGGTGAAACCCTGTTGCTACTAAAAATACAAAATGAGCCGGGCGTGGTGGCGGGCGCCTGTAATCCCAGCTACTCGGGAGACTGAGGCAGGAGAATCATTGAACCCAGGAGGCAGAGGATGCAGTGAGCCAAGATTGCGCCATTGCACTCCAGCCTGGGCAACCAGAGTGAAACTTTGTCTCAAAAAAAAAAAAAAAAATCTCCATCTATTGGGAACCACTACACTGTGCTAAAAAGGCACTGTTCCACGTAGTGGA
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Task1_train_13693
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The variant affects gene KIF5B (kinesin family member 5B), which is on Chromosome 10. Please evaluate whether this mutation is benign or pathogenic and specify the disease if necessary.
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Pathogenic; Abnormal facial shape
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GGAAAAGAATTACTTGTTAATGACAAAAATACTGAGGATCCTTTTTTTTTTTTAATTAGAATAACTATTTGCAAAGACGACTTATTTTCAAACTGCTATGGTATAGTGGAAAAAAAAATCTAGTAGTCATGGAACCTGGATTTCATCCCTCTGCCACTAAACATAAACCATTTCCACTCTCTCTTTACACTTTTTAACTTAAATCATAATTATTTGAACATAAAATATAAGATTTGTCTAAAAAGTTGCAAATCTACAAAGCAAATCTTGAACAACATCTCTCTGGTGTTCTGCGATATGAAATAAATGTACTTTTCCATCCTAGAGATTTCTCTACATCTCACATTACTTCACCATAAACAGAATAGGGCCGAAATGTTCAGACTGATGGTGAAGGGAAAGCAAGTCAAGTGGCCCCATAGTGAGTCCACTGAAGAAATAACATATGAAGAGAAGAGTCATGAGAATCCTTGCCTCCATCAACAAACAGTAACTTTTATTTTGTTGATTTTATCTTTTATTCTTTTTGTATTTTTTAAAAATATTTTTTCTTCATTTTTAAACTGAAGAATCAGTTAACAGCAAACAGCAACATTAAACAATACAAAAGATGGAAATGTGTACTCCATATTGAAAACTTTTACGTCAGTTCCAACTCTGGTTAACAGACTGGGCTTTTTAGTAGGCTCTCAATATAAACCCAAGTGTATATGCTCTCTTTGTATTGTAATTAGGCTTTAATCAAAAAGGTAAAGTCTAAACAGCTACTGCAACATACAAATCTTTCATGTTATATGCATGGTTTTTCAGTTAAGAGTCTTAGTTTGGTTCTTTGGTCTTAGTTTTTAAATCTACCACCAAGTCAAATGCCTAATGCTAACAACCAATATTAGTATCTTTAAAAAGATTAGGACAAAGAGGTATAAAGAAAATATGGACATATTTTGAAAACTGAAAACTCTAGAGTTCATTGTATTATTCTCTCTACTATTATATGTTTGAAATTTTTCACACTAAAATAAAAAAGAATTAAGAAAGCAGTGCTCATCTTTAACTTTTCTTTAAATATTTAAAGCAACCACAAGCCCATTCATTATAAATTTATTCCCTGAGCTAATCTTTTTTTTTTTTTTTTTTCCAGATAGGGTCTCACTGTTGCTCAGGCTGGAGTGCCATGGCACAAACATGGTTCACAGCATCTTTAACCTCCTGCCTCAGTCTCTTAAAATAGCTGGGACTACAGGCATGTATCACCATGCCTACATGCTAGGCTAATTTTTAAATTTTTTGTAGGGACAAGGTCTTGCCACGTTGCCCAGGCTGGTCTCGAACTCCTGGGCTCAAGTGATCCTCCTGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCTTGAGCCACTATGTCTGGTCCGTGAACTAATCTTAATTGTTGTTCCAATCATTTCACTTATGGAAATTTATTAACGTAATTTTTAAGCACGAATTTTTTTTTTTTCTGGAGACAGCATCTTGATCTGTTGTGCAGGCTGGAGTGCAGTTGCACGATTGCAGCTCACTGCAGCCTTGACCTCCCAGGCTCAAGCAATCCTCCCACCCCAGTAGCTGGGACTACAGGCACACGCCACCATGCCAGGCTCATTTTTGTATTTTTTGTAGAGACAGGGTTTCGCCACATTGCCCAGGTTGGGGAAAATGTTATAGTAAAGAATCAAACATGAGGTCCAATAAATGCCGCCTACTGAATTTACCTATTTGGGTGCCCTTATTCTCTTGCTCTCTCCTGATCTATTTAAAATGCGGTTAATAACATCTACTACACGACTGTTTGTGAGGATGAGATCATGAATACGAAAAGAACTTTACAAACTATTAGTAGTAAACAAAAGTGCCAGTGTATACAGATAATTGTCCTTAATACTTAGTTATTATATTTACCTTTACATCATTATTTCCCACAGCAATTCCTATTTCTGCAAGGTCTTTTAGTAAAGATGCCATCATCTCAGCTGCTCGTTTTTTCTGGTGGTTGGTCATTTCCTTAAGTTTCTGAAGCTCAGCATCTATACTCGCTAAAGTTGCCTAAGAGAACCCAAAACAAAAAGTATAGTTAAATCTACTACATGAAAATTCAAATCAAATACTCATCGGTGTTTCAAGTTTTACACCAAGCCCTTACGAAACCATGTCTTTTCTGCTTTCATTTTTCTTGAACTATCTACCAGGTTCTGGGCTCCCAGCTCAAACTTAAAATATATTTTAGACCTAATAGGCTATGGTAAAAGTAGCCACATTGTTTTCAATTAAGAGCAGGCAGTTTCTGTTATTTCACTAAATTCCTGGGATTGAATAATATTTTCTGTCTAAAAATGGGAAGCCTCAAATTTAACTAGATTTGATTATCACTTATTACTATATTATGTCTTATCTTTAGAAAGTGAGTCAGCAAATTAACGTTACAATGACACTCTTTTCTAGATGGTTAGTATGCTTTCTTCATCTACTTTCTATATACTTACTCACTGGAAAGAATCCATGTGATAATACTATGATACAGGCAATTATCCAGGAGCTAGTGTTAAAGTAATATTATCTGAGTTTAATGACTATCATTATAAATCTCAAATCATAGCTGGCTTAACAGCTACAAAATCACCAAATTTTGAAAAGTCCAACCCAGTTTGGTGCCCACTTTAAAATAACTCATATGGCAGAACAGATACAAGGTGAGCATCCCCACTCCGAAGTGCTCGAAAATCTGGGACTTTTTGAGTGCTTGCATGATGCTCAAAGAAAATGCTCACTGAAGCATTTTGGACTTGCCAATTAGAAATGCTCAACTGGTAAGTATAATGCAAACATTCCAAAATCTGAAACGCTTGGGGCTTCTGTATTTGTAATGCCTGTACTATACTGTATTTGTAATGCCATTTATTGACTTTTCATCAGTATCTTTTAGTAAAGATGCCATCATTCCAACTGCTTATTTCTTATGGTAGTTCGTCATTTCCTTAAGTTTCTGAGTATCAGTAGAGTATGTATCCACCCAGGTTAATCTACAATATGATACCAATTATCTTCAAGTCTCATAATATAGCATGCTTCTACCATAATTGTTTAAATTACCAGACACTCTCTAACTGAACAGCAACACTGTCTAAGCATATAAACAGATGCTAAACACTAGGGATTTCTAACTCCTATTATCAATGTAATGCTGATAGATTTCAGCTCCACAAGTGAAACATAAATATAACTGTCTTAAAGACTAAAATCAGCGGCCAAGGACCACCTTTCAGAGTTGTAAAAAACTCCTGTTATTCTTTCATACAACAATTAGCTTTGTTAATAATGCAACTCAGTAAGAGTTAGTTATAATGGTGTCTTAGATCTGTACAGTACTGAATGTTAACTTCAAGCTAACTGTAACTTTGTAGATTAAAAAGAGAAAAGGAACTCATAGGGGCAGGAAACCTTTTAAAAGCATTATTTTGTACTGTTGACTGCTTTCTTTTAGACAAGTTAATGTGAGCAGGGAAATAAGTGGTGGACATGGGTCCTGAGTGCAACTCTAGATGCTGATTTCTAAACAAGAAGCTAGCATTAACCACAACAAAACCACAAAATAGCTCCTCCATGATGATGTTGAAACATTCATAGCTATGTATTATTTCTGTCATCATTGTTGGAGGTTGGCGATGTCTGTCCTGTATCAATTTTCAGCAAGTAAAAATCTCCATCTAGTCGCCAGGCACGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCTGAGGTGGGTGGATCACCTGAGGTCAGGAGCTCGAGACCAGCCTGGCCAACATGGTGAAACCCTGTTGCTACTAAAAATACAAAATGAGCCGGGCGTGGTGGCGGGCGCCTGTAATCCCAGCTACTCGGGAGACTGAGGCAGGAGAATCATTGAACCCAGGAGGCAGAGGATGCAGTGAGCCAAGATTGCGCCATTGCACTCCAGCCTGGGCAACCAGAGTGAAACTTTGTCTCAAAAAAAAAAAAAAAAATCTCCATCTATTGGGAACCACTACACTGTGCTAAAAAGGCACTGTTCCACGTAGTGGA
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GGAAAAGAATTACTTGTTAATGACAAAAATACTGAGGATCCTTTTTTTTTTTTAATTAGAATAACTATTTGCAAAGACGACTTATTTTCAAACTGCTATGGTATAGTGGAAAAAAAAATCTAGTAGTCATGGAACCTGGATTTCATCCCTCTGCCACTAAACATAAACCATTTCCACTCTCTCTTTACACTTTTTAACTTAAATCATAATTATTTGAACATAAAATATAAGATTTGTCTAAAAAGTTGCAAATCTACAAAGCAAATCTTGAACAACATCTCTCTGGTGTTCTGCGATATGAAATAAATGTACTTTTCCATCCTAGAGATTTCTCTACATCTCACATTACTTCACCATAAACAGAATAGGGCCGAAATGTTCAGACTGATGGTGAAGGGAAAGCAAGTCAAGTGGCCCCATAGTGAGTCCACTGAAGAAATAACATATGAAGAGAAGAGTCATGAGAATCCTTGCCTCCATCAACAAACAGTAACTTTTATTTTGTTGATTTTATCTTTTATTCTTTTTGTATTTTTTAAAAATATTTTTTCTTCATTTTTAAACTGAAGAATCAGTTAACAGCAAACAGCAACATTAAACAATACAAAAGATGGAAATGTGTACTCCATATTGAAAACTTTTACGTCAGTTCCAACTCTGGTTAACAGACTGGGCTTTTTAGTAGGCTCTCAATATAAACCCAAGTGTATATGCTCTCTTTGTATTGTAATTAGGCTTTAATCAAAAAGGTAAAGTCTAAACAGCTACTGCAACATACAAATCTTTCATGTTATATGCATGGTTTTTCAGTTAAGAGTCTTAGTTTGGTTCTTTGGTCTTAGTTTTTAAATCTACCACCAAGTCAAATGCCTAATGCTAACAACCAATATTAGTATCTTTAAAAAGATTAGGACAAAGAGGTATAAAGAAAATATGGACATATTTTGAAAACTGAAAACTCTAGAGTTCATTGTATTATTCTCTCTACTATTATATGTTTGAAATTTTTCACACTAAAATAAAAAAGAATTAAGAAAGCAGTGCTCATCTTTAACTTTTCTTTAAATATTTAAAGCAACCACAAGCCCATTCATTATAAATTTATTCCCTGAGCTAATCTTTTTTTTTTTTTTTTTTCCAGATAGGGTCTCACTGTTGCTCAGGCTGGAGTGCCATGGCACAAACATGGTTCACAGCATCTTTAACCTCCTGCCTCAGTCTCTTAAAATAGCTGGGACTACAGGCATGTATCACCATGCCTACATGCTAGGCTAATTTTTAAATTTTTTGTAGGGACAAGGTCTTGCCACGTTGCCCAGGCTGGTCTCGAACTCCTGGGCTCAAGTGATCCTCCTGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCTTGAGCCACTATGTCTGGTCCGTGAACTAATCTTAATTGTTGTTCCAATCATTTCACTTATGGAAATTTATTAACGTAATTTTTAAGCACGAATTTTTTTTTTTTCTGGAGACAGCATCTTGATCTGTTGTGCAGGCTGGAGTGCAGTTGCACGATTGCAGCTCACTGCAGCCTTGACCTCCCAGGCTCAAGCAATCCTCCCACCCCAGTAGCTGGGACTACAGGCACACGCCACCATGCCAGGCTCATTTTTGTATTTTTTGTAGAGACAGGGTTTCGCCACATTGCCCAGGTTGGGGAAAATGTTATAGTAAAGAATCAAACATGAGGTCCAATAAATGCCGCCTACTGAATTTACCTATTTGGGTGCCCTTATTCTCTTGCTCTCTCCTGATCTATTTAAAATGCGGTTAATAACATCTACTACACGACTGTTTGTGAGGATGAGATCATGAATACGAAAAGAACTTTACAAACTATTAGTAGTAAACAAAAGTGCCAGTGTATACAGATAATTGTCCTTAATACTTAGTTATTATATTTACCTTTACATCATTATTTCCCACAGCAATTCCTATTTCTGCAAGGTCTTTTAGTAAAGATGCCATCATCTCAGCTGCTCGTTTTTTCTGGTGGTTGGTCATTTCCTTAAGTTTCTGAGGCTCAGCATCTATACTCGCTAAAGTTGCCTAAGAGAACCCAAAACAAAAAGTATAGTTAAATCTACTACATGAAAATTCAAATCAAATACTCATCGGTGTTTCAAGTTTTACACCAAGCCCTTACGAAACCATGTCTTTTCTGCTTTCATTTTTCTTGAACTATCTACCAGGTTCTGGGCTCCCAGCTCAAACTTAAAATATATTTTAGACCTAATAGGCTATGGTAAAAGTAGCCACATTGTTTTCAATTAAGAGCAGGCAGTTTCTGTTATTTCACTAAATTCCTGGGATTGAATAATATTTTCTGTCTAAAAATGGGAAGCCTCAAATTTAACTAGATTTGATTATCACTTATTACTATATTATGTCTTATCTTTAGAAAGTGAGTCAGCAAATTAACGTTACAATGACACTCTTTTCTAGATGGTTAGTATGCTTTCTTCATCTACTTTCTATATACTTACTCACTGGAAAGAATCCATGTGATAATACTATGATACAGGCAATTATCCAGGAGCTAGTGTTAAAGTAATATTATCTGAGTTTAATGACTATCATTATAAATCTCAAATCATAGCTGGCTTAACAGCTACAAAATCACCAAATTTTGAAAAGTCCAACCCAGTTTGGTGCCCACTTTAAAATAACTCATATGGCAGAACAGATACAAGGTGAGCATCCCCACTCCGAAGTGCTCGAAAATCTGGGACTTTTTGAGTGCTTGCATGATGCTCAAAGAAAATGCTCACTGAAGCATTTTGGACTTGCCAATTAGAAATGCTCAACTGGTAAGTATAATGCAAACATTCCAAAATCTGAAACGCTTGGGGCTTCTGTATTTGTAATGCCTGTACTATACTGTATTTGTAATGCCATTTATTGACTTTTCATCAGTATCTTTTAGTAAAGATGCCATCATTCCAACTGCTTATTTCTTATGGTAGTTCGTCATTTCCTTAAGTTTCTGAGTATCAGTAGAGTATGTATCCACCCAGGTTAATCTACAATATGATACCAATTATCTTCAAGTCTCATAATATAGCATGCTTCTACCATAATTGTTTAAATTACCAGACACTCTCTAACTGAACAGCAACACTGTCTAAGCATATAAACAGATGCTAAACACTAGGGATTTCTAACTCCTATTATCAATGTAATGCTGATAGATTTCAGCTCCACAAGTGAAACATAAATATAACTGTCTTAAAGACTAAAATCAGCGGCCAAGGACCACCTTTCAGAGTTGTAAAAAACTCCTGTTATTCTTTCATACAACAATTAGCTTTGTTAATAATGCAACTCAGTAAGAGTTAGTTATAATGGTGTCTTAGATCTGTACAGTACTGAATGTTAACTTCAAGCTAACTGTAACTTTGTAGATTAAAAAGAGAAAAGGAACTCATAGGGGCAGGAAACCTTTTAAAAGCATTATTTTGTACTGTTGACTGCTTTCTTTTAGACAAGTTAATGTGAGCAGGGAAATAAGTGGTGGACATGGGTCCTGAGTGCAACTCTAGATGCTGATTTCTAAACAAGAAGCTAGCATTAACCACAACAAAACCACAAAATAGCTCCTCCATGATGATGTTGAAACATTCATAGCTATGTATTATTTCTGTCATCATTGTTGGAGGTTGGCGATGTCTGTCCTGTATCAATTTTCAGCAAGTAAAAATCTCCATCTAGTCGCCAGGCACGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCTGAGGTGGGTGGATCACCTGAGGTCAGGAGCTCGAGACCAGCCTGGCCAACATGGTGAAACCCTGTTGCTACTAAAAATACAAAATGAGCCGGGCGTGGTGGCGGGCGCCTGTAATCCCAGCTACTCGGGAGACTGAGGCAGGAGAATCATTGAACCCAGGAGGCAGAGGATGCAGTGAGCCAAGATTGCGCCATTGCACTCCAGCCTGGGCAACCAGAGTGAAACTTTGTCTCAAAAAAAAAAAAAAAAATCTCCATCTATTGGGAACCACTACACTGTGCTAAAAAGGCACTGTTCCACGTAGTGGA
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Task1_train_13694
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A variant was discovered on Chromosome 10, affecting KIF5B (kinesin family member 5B). What is its functional impact — neutral or pathogenic? State the disease if pathogenic.
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Pathogenic; Seizure
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GGAAAAGAATTACTTGTTAATGACAAAAATACTGAGGATCCTTTTTTTTTTTTAATTAGAATAACTATTTGCAAAGACGACTTATTTTCAAACTGCTATGGTATAGTGGAAAAAAAAATCTAGTAGTCATGGAACCTGGATTTCATCCCTCTGCCACTAAACATAAACCATTTCCACTCTCTCTTTACACTTTTTAACTTAAATCATAATTATTTGAACATAAAATATAAGATTTGTCTAAAAAGTTGCAAATCTACAAAGCAAATCTTGAACAACATCTCTCTGGTGTTCTGCGATATGAAATAAATGTACTTTTCCATCCTAGAGATTTCTCTACATCTCACATTACTTCACCATAAACAGAATAGGGCCGAAATGTTCAGACTGATGGTGAAGGGAAAGCAAGTCAAGTGGCCCCATAGTGAGTCCACTGAAGAAATAACATATGAAGAGAAGAGTCATGAGAATCCTTGCCTCCATCAACAAACAGTAACTTTTATTTTGTTGATTTTATCTTTTATTCTTTTTGTATTTTTTAAAAATATTTTTTCTTCATTTTTAAACTGAAGAATCAGTTAACAGCAAACAGCAACATTAAACAATACAAAAGATGGAAATGTGTACTCCATATTGAAAACTTTTACGTCAGTTCCAACTCTGGTTAACAGACTGGGCTTTTTAGTAGGCTCTCAATATAAACCCAAGTGTATATGCTCTCTTTGTATTGTAATTAGGCTTTAATCAAAAAGGTAAAGTCTAAACAGCTACTGCAACATACAAATCTTTCATGTTATATGCATGGTTTTTCAGTTAAGAGTCTTAGTTTGGTTCTTTGGTCTTAGTTTTTAAATCTACCACCAAGTCAAATGCCTAATGCTAACAACCAATATTAGTATCTTTAAAAAGATTAGGACAAAGAGGTATAAAGAAAATATGGACATATTTTGAAAACTGAAAACTCTAGAGTTCATTGTATTATTCTCTCTACTATTATATGTTTGAAATTTTTCACACTAAAATAAAAAAGAATTAAGAAAGCAGTGCTCATCTTTAACTTTTCTTTAAATATTTAAAGCAACCACAAGCCCATTCATTATAAATTTATTCCCTGAGCTAATCTTTTTTTTTTTTTTTTTTCCAGATAGGGTCTCACTGTTGCTCAGGCTGGAGTGCCATGGCACAAACATGGTTCACAGCATCTTTAACCTCCTGCCTCAGTCTCTTAAAATAGCTGGGACTACAGGCATGTATCACCATGCCTACATGCTAGGCTAATTTTTAAATTTTTTGTAGGGACAAGGTCTTGCCACGTTGCCCAGGCTGGTCTCGAACTCCTGGGCTCAAGTGATCCTCCTGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCTTGAGCCACTATGTCTGGTCCGTGAACTAATCTTAATTGTTGTTCCAATCATTTCACTTATGGAAATTTATTAACGTAATTTTTAAGCACGAATTTTTTTTTTTTCTGGAGACAGCATCTTGATCTGTTGTGCAGGCTGGAGTGCAGTTGCACGATTGCAGCTCACTGCAGCCTTGACCTCCCAGGCTCAAGCAATCCTCCCACCCCAGTAGCTGGGACTACAGGCACACGCCACCATGCCAGGCTCATTTTTGTATTTTTTGTAGAGACAGGGTTTCGCCACATTGCCCAGGTTGGGGAAAATGTTATAGTAAAGAATCAAACATGAGGTCCAATAAATGCCGCCTACTGAATTTACCTATTTGGGTGCCCTTATTCTCTTGCTCTCTCCTGATCTATTTAAAATGCGGTTAATAACATCTACTACACGACTGTTTGTGAGGATGAGATCATGAATACGAAAAGAACTTTACAAACTATTAGTAGTAAACAAAAGTGCCAGTGTATACAGATAATTGTCCTTAATACTTAGTTATTATATTTACCTTTACATCATTATTTCCCACAGCAATTCCTATTTCTGCAAGGTCTTTTAGTAAAGATGCCATCATCTCAGCTGCTCGTTTTTTCTGGTGGTTGGTCATTTCCTTAAGTTTCTGAAGCTCAGCATCTATACTCGCTAAAGTTGCCTAAGAGAACCCAAAACAAAAAGTATAGTTAAATCTACTACATGAAAATTCAAATCAAATACTCATCGGTGTTTCAAGTTTTACACCAAGCCCTTACGAAACCATGTCTTTTCTGCTTTCATTTTTCTTGAACTATCTACCAGGTTCTGGGCTCCCAGCTCAAACTTAAAATATATTTTAGACCTAATAGGCTATGGTAAAAGTAGCCACATTGTTTTCAATTAAGAGCAGGCAGTTTCTGTTATTTCACTAAATTCCTGGGATTGAATAATATTTTCTGTCTAAAAATGGGAAGCCTCAAATTTAACTAGATTTGATTATCACTTATTACTATATTATGTCTTATCTTTAGAAAGTGAGTCAGCAAATTAACGTTACAATGACACTCTTTTCTAGATGGTTAGTATGCTTTCTTCATCTACTTTCTATATACTTACTCACTGGAAAGAATCCATGTGATAATACTATGATACAGGCAATTATCCAGGAGCTAGTGTTAAAGTAATATTATCTGAGTTTAATGACTATCATTATAAATCTCAAATCATAGCTGGCTTAACAGCTACAAAATCACCAAATTTTGAAAAGTCCAACCCAGTTTGGTGCCCACTTTAAAATAACTCATATGGCAGAACAGATACAAGGTGAGCATCCCCACTCCGAAGTGCTCGAAAATCTGGGACTTTTTGAGTGCTTGCATGATGCTCAAAGAAAATGCTCACTGAAGCATTTTGGACTTGCCAATTAGAAATGCTCAACTGGTAAGTATAATGCAAACATTCCAAAATCTGAAACGCTTGGGGCTTCTGTATTTGTAATGCCTGTACTATACTGTATTTGTAATGCCATTTATTGACTTTTCATCAGTATCTTTTAGTAAAGATGCCATCATTCCAACTGCTTATTTCTTATGGTAGTTCGTCATTTCCTTAAGTTTCTGAGTATCAGTAGAGTATGTATCCACCCAGGTTAATCTACAATATGATACCAATTATCTTCAAGTCTCATAATATAGCATGCTTCTACCATAATTGTTTAAATTACCAGACACTCTCTAACTGAACAGCAACACTGTCTAAGCATATAAACAGATGCTAAACACTAGGGATTTCTAACTCCTATTATCAATGTAATGCTGATAGATTTCAGCTCCACAAGTGAAACATAAATATAACTGTCTTAAAGACTAAAATCAGCGGCCAAGGACCACCTTTCAGAGTTGTAAAAAACTCCTGTTATTCTTTCATACAACAATTAGCTTTGTTAATAATGCAACTCAGTAAGAGTTAGTTATAATGGTGTCTTAGATCTGTACAGTACTGAATGTTAACTTCAAGCTAACTGTAACTTTGTAGATTAAAAAGAGAAAAGGAACTCATAGGGGCAGGAAACCTTTTAAAAGCATTATTTTGTACTGTTGACTGCTTTCTTTTAGACAAGTTAATGTGAGCAGGGAAATAAGTGGTGGACATGGGTCCTGAGTGCAACTCTAGATGCTGATTTCTAAACAAGAAGCTAGCATTAACCACAACAAAACCACAAAATAGCTCCTCCATGATGATGTTGAAACATTCATAGCTATGTATTATTTCTGTCATCATTGTTGGAGGTTGGCGATGTCTGTCCTGTATCAATTTTCAGCAAGTAAAAATCTCCATCTAGTCGCCAGGCACGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCTGAGGTGGGTGGATCACCTGAGGTCAGGAGCTCGAGACCAGCCTGGCCAACATGGTGAAACCCTGTTGCTACTAAAAATACAAAATGAGCCGGGCGTGGTGGCGGGCGCCTGTAATCCCAGCTACTCGGGAGACTGAGGCAGGAGAATCATTGAACCCAGGAGGCAGAGGATGCAGTGAGCCAAGATTGCGCCATTGCACTCCAGCCTGGGCAACCAGAGTGAAACTTTGTCTCAAAAAAAAAAAAAAAAATCTCCATCTATTGGGAACCACTACACTGTGCTAAAAAGGCACTGTTCCACGTAGTGGA
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GGAAAAGAATTACTTGTTAATGACAAAAATACTGAGGATCCTTTTTTTTTTTTAATTAGAATAACTATTTGCAAAGACGACTTATTTTCAAACTGCTATGGTATAGTGGAAAAAAAAATCTAGTAGTCATGGAACCTGGATTTCATCCCTCTGCCACTAAACATAAACCATTTCCACTCTCTCTTTACACTTTTTAACTTAAATCATAATTATTTGAACATAAAATATAAGATTTGTCTAAAAAGTTGCAAATCTACAAAGCAAATCTTGAACAACATCTCTCTGGTGTTCTGCGATATGAAATAAATGTACTTTTCCATCCTAGAGATTTCTCTACATCTCACATTACTTCACCATAAACAGAATAGGGCCGAAATGTTCAGACTGATGGTGAAGGGAAAGCAAGTCAAGTGGCCCCATAGTGAGTCCACTGAAGAAATAACATATGAAGAGAAGAGTCATGAGAATCCTTGCCTCCATCAACAAACAGTAACTTTTATTTTGTTGATTTTATCTTTTATTCTTTTTGTATTTTTTAAAAATATTTTTTCTTCATTTTTAAACTGAAGAATCAGTTAACAGCAAACAGCAACATTAAACAATACAAAAGATGGAAATGTGTACTCCATATTGAAAACTTTTACGTCAGTTCCAACTCTGGTTAACAGACTGGGCTTTTTAGTAGGCTCTCAATATAAACCCAAGTGTATATGCTCTCTTTGTATTGTAATTAGGCTTTAATCAAAAAGGTAAAGTCTAAACAGCTACTGCAACATACAAATCTTTCATGTTATATGCATGGTTTTTCAGTTAAGAGTCTTAGTTTGGTTCTTTGGTCTTAGTTTTTAAATCTACCACCAAGTCAAATGCCTAATGCTAACAACCAATATTAGTATCTTTAAAAAGATTAGGACAAAGAGGTATAAAGAAAATATGGACATATTTTGAAAACTGAAAACTCTAGAGTTCATTGTATTATTCTCTCTACTATTATATGTTTGAAATTTTTCACACTAAAATAAAAAAGAATTAAGAAAGCAGTGCTCATCTTTAACTTTTCTTTAAATATTTAAAGCAACCACAAGCCCATTCATTATAAATTTATTCCCTGAGCTAATCTTTTTTTTTTTTTTTTTTCCAGATAGGGTCTCACTGTTGCTCAGGCTGGAGTGCCATGGCACAAACATGGTTCACAGCATCTTTAACCTCCTGCCTCAGTCTCTTAAAATAGCTGGGACTACAGGCATGTATCACCATGCCTACATGCTAGGCTAATTTTTAAATTTTTTGTAGGGACAAGGTCTTGCCACGTTGCCCAGGCTGGTCTCGAACTCCTGGGCTCAAGTGATCCTCCTGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCTTGAGCCACTATGTCTGGTCCGTGAACTAATCTTAATTGTTGTTCCAATCATTTCACTTATGGAAATTTATTAACGTAATTTTTAAGCACGAATTTTTTTTTTTTCTGGAGACAGCATCTTGATCTGTTGTGCAGGCTGGAGTGCAGTTGCACGATTGCAGCTCACTGCAGCCTTGACCTCCCAGGCTCAAGCAATCCTCCCACCCCAGTAGCTGGGACTACAGGCACACGCCACCATGCCAGGCTCATTTTTGTATTTTTTGTAGAGACAGGGTTTCGCCACATTGCCCAGGTTGGGGAAAATGTTATAGTAAAGAATCAAACATGAGGTCCAATAAATGCCGCCTACTGAATTTACCTATTTGGGTGCCCTTATTCTCTTGCTCTCTCCTGATCTATTTAAAATGCGGTTAATAACATCTACTACACGACTGTTTGTGAGGATGAGATCATGAATACGAAAAGAACTTTACAAACTATTAGTAGTAAACAAAAGTGCCAGTGTATACAGATAATTGTCCTTAATACTTAGTTATTATATTTACCTTTACATCATTATTTCCCACAGCAATTCCTATTTCTGCAAGGTCTTTTAGTAAAGATGCCATCATCTCAGCTGCTCGTTTTTTCTGGTGGTTGGTCATTTCCTTAAGTTTCTGAGGCTCAGCATCTATACTCGCTAAAGTTGCCTAAGAGAACCCAAAACAAAAAGTATAGTTAAATCTACTACATGAAAATTCAAATCAAATACTCATCGGTGTTTCAAGTTTTACACCAAGCCCTTACGAAACCATGTCTTTTCTGCTTTCATTTTTCTTGAACTATCTACCAGGTTCTGGGCTCCCAGCTCAAACTTAAAATATATTTTAGACCTAATAGGCTATGGTAAAAGTAGCCACATTGTTTTCAATTAAGAGCAGGCAGTTTCTGTTATTTCACTAAATTCCTGGGATTGAATAATATTTTCTGTCTAAAAATGGGAAGCCTCAAATTTAACTAGATTTGATTATCACTTATTACTATATTATGTCTTATCTTTAGAAAGTGAGTCAGCAAATTAACGTTACAATGACACTCTTTTCTAGATGGTTAGTATGCTTTCTTCATCTACTTTCTATATACTTACTCACTGGAAAGAATCCATGTGATAATACTATGATACAGGCAATTATCCAGGAGCTAGTGTTAAAGTAATATTATCTGAGTTTAATGACTATCATTATAAATCTCAAATCATAGCTGGCTTAACAGCTACAAAATCACCAAATTTTGAAAAGTCCAACCCAGTTTGGTGCCCACTTTAAAATAACTCATATGGCAGAACAGATACAAGGTGAGCATCCCCACTCCGAAGTGCTCGAAAATCTGGGACTTTTTGAGTGCTTGCATGATGCTCAAAGAAAATGCTCACTGAAGCATTTTGGACTTGCCAATTAGAAATGCTCAACTGGTAAGTATAATGCAAACATTCCAAAATCTGAAACGCTTGGGGCTTCTGTATTTGTAATGCCTGTACTATACTGTATTTGTAATGCCATTTATTGACTTTTCATCAGTATCTTTTAGTAAAGATGCCATCATTCCAACTGCTTATTTCTTATGGTAGTTCGTCATTTCCTTAAGTTTCTGAGTATCAGTAGAGTATGTATCCACCCAGGTTAATCTACAATATGATACCAATTATCTTCAAGTCTCATAATATAGCATGCTTCTACCATAATTGTTTAAATTACCAGACACTCTCTAACTGAACAGCAACACTGTCTAAGCATATAAACAGATGCTAAACACTAGGGATTTCTAACTCCTATTATCAATGTAATGCTGATAGATTTCAGCTCCACAAGTGAAACATAAATATAACTGTCTTAAAGACTAAAATCAGCGGCCAAGGACCACCTTTCAGAGTTGTAAAAAACTCCTGTTATTCTTTCATACAACAATTAGCTTTGTTAATAATGCAACTCAGTAAGAGTTAGTTATAATGGTGTCTTAGATCTGTACAGTACTGAATGTTAACTTCAAGCTAACTGTAACTTTGTAGATTAAAAAGAGAAAAGGAACTCATAGGGGCAGGAAACCTTTTAAAAGCATTATTTTGTACTGTTGACTGCTTTCTTTTAGACAAGTTAATGTGAGCAGGGAAATAAGTGGTGGACATGGGTCCTGAGTGCAACTCTAGATGCTGATTTCTAAACAAGAAGCTAGCATTAACCACAACAAAACCACAAAATAGCTCCTCCATGATGATGTTGAAACATTCATAGCTATGTATTATTTCTGTCATCATTGTTGGAGGTTGGCGATGTCTGTCCTGTATCAATTTTCAGCAAGTAAAAATCTCCATCTAGTCGCCAGGCACGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCTGAGGTGGGTGGATCACCTGAGGTCAGGAGCTCGAGACCAGCCTGGCCAACATGGTGAAACCCTGTTGCTACTAAAAATACAAAATGAGCCGGGCGTGGTGGCGGGCGCCTGTAATCCCAGCTACTCGGGAGACTGAGGCAGGAGAATCATTGAACCCAGGAGGCAGAGGATGCAGTGAGCCAAGATTGCGCCATTGCACTCCAGCCTGGGCAACCAGAGTGAAACTTTGTCTCAAAAAAAAAAAAAAAAATCTCCATCTATTGGGAACCACTACACTGTGCTAAAAAGGCACTGTTCCACGTAGTGGA
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Task1_train_13695
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A variant affecting Chromosome 10, within the gene KIF5B (kinesin family member 5B), has been observed. Determine if it's benign or associated with disease.
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Pathogenic; Respiratory distress
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GGAAAAGAATTACTTGTTAATGACAAAAATACTGAGGATCCTTTTTTTTTTTTAATTAGAATAACTATTTGCAAAGACGACTTATTTTCAAACTGCTATGGTATAGTGGAAAAAAAAATCTAGTAGTCATGGAACCTGGATTTCATCCCTCTGCCACTAAACATAAACCATTTCCACTCTCTCTTTACACTTTTTAACTTAAATCATAATTATTTGAACATAAAATATAAGATTTGTCTAAAAAGTTGCAAATCTACAAAGCAAATCTTGAACAACATCTCTCTGGTGTTCTGCGATATGAAATAAATGTACTTTTCCATCCTAGAGATTTCTCTACATCTCACATTACTTCACCATAAACAGAATAGGGCCGAAATGTTCAGACTGATGGTGAAGGGAAAGCAAGTCAAGTGGCCCCATAGTGAGTCCACTGAAGAAATAACATATGAAGAGAAGAGTCATGAGAATCCTTGCCTCCATCAACAAACAGTAACTTTTATTTTGTTGATTTTATCTTTTATTCTTTTTGTATTTTTTAAAAATATTTTTTCTTCATTTTTAAACTGAAGAATCAGTTAACAGCAAACAGCAACATTAAACAATACAAAAGATGGAAATGTGTACTCCATATTGAAAACTTTTACGTCAGTTCCAACTCTGGTTAACAGACTGGGCTTTTTAGTAGGCTCTCAATATAAACCCAAGTGTATATGCTCTCTTTGTATTGTAATTAGGCTTTAATCAAAAAGGTAAAGTCTAAACAGCTACTGCAACATACAAATCTTTCATGTTATATGCATGGTTTTTCAGTTAAGAGTCTTAGTTTGGTTCTTTGGTCTTAGTTTTTAAATCTACCACCAAGTCAAATGCCTAATGCTAACAACCAATATTAGTATCTTTAAAAAGATTAGGACAAAGAGGTATAAAGAAAATATGGACATATTTTGAAAACTGAAAACTCTAGAGTTCATTGTATTATTCTCTCTACTATTATATGTTTGAAATTTTTCACACTAAAATAAAAAAGAATTAAGAAAGCAGTGCTCATCTTTAACTTTTCTTTAAATATTTAAAGCAACCACAAGCCCATTCATTATAAATTTATTCCCTGAGCTAATCTTTTTTTTTTTTTTTTTTCCAGATAGGGTCTCACTGTTGCTCAGGCTGGAGTGCCATGGCACAAACATGGTTCACAGCATCTTTAACCTCCTGCCTCAGTCTCTTAAAATAGCTGGGACTACAGGCATGTATCACCATGCCTACATGCTAGGCTAATTTTTAAATTTTTTGTAGGGACAAGGTCTTGCCACGTTGCCCAGGCTGGTCTCGAACTCCTGGGCTCAAGTGATCCTCCTGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCTTGAGCCACTATGTCTGGTCCGTGAACTAATCTTAATTGTTGTTCCAATCATTTCACTTATGGAAATTTATTAACGTAATTTTTAAGCACGAATTTTTTTTTTTTCTGGAGACAGCATCTTGATCTGTTGTGCAGGCTGGAGTGCAGTTGCACGATTGCAGCTCACTGCAGCCTTGACCTCCCAGGCTCAAGCAATCCTCCCACCCCAGTAGCTGGGACTACAGGCACACGCCACCATGCCAGGCTCATTTTTGTATTTTTTGTAGAGACAGGGTTTCGCCACATTGCCCAGGTTGGGGAAAATGTTATAGTAAAGAATCAAACATGAGGTCCAATAAATGCCGCCTACTGAATTTACCTATTTGGGTGCCCTTATTCTCTTGCTCTCTCCTGATCTATTTAAAATGCGGTTAATAACATCTACTACACGACTGTTTGTGAGGATGAGATCATGAATACGAAAAGAACTTTACAAACTATTAGTAGTAAACAAAAGTGCCAGTGTATACAGATAATTGTCCTTAATACTTAGTTATTATATTTACCTTTACATCATTATTTCCCACAGCAATTCCTATTTCTGCAAGGTCTTTTAGTAAAGATGCCATCATCTCAGCTGCTCGTTTTTTCTGGTGGTTGGTCATTTCCTTAAGTTTCTGAAGCTCAGCATCTATACTCGCTAAAGTTGCCTAAGAGAACCCAAAACAAAAAGTATAGTTAAATCTACTACATGAAAATTCAAATCAAATACTCATCGGTGTTTCAAGTTTTACACCAAGCCCTTACGAAACCATGTCTTTTCTGCTTTCATTTTTCTTGAACTATCTACCAGGTTCTGGGCTCCCAGCTCAAACTTAAAATATATTTTAGACCTAATAGGCTATGGTAAAAGTAGCCACATTGTTTTCAATTAAGAGCAGGCAGTTTCTGTTATTTCACTAAATTCCTGGGATTGAATAATATTTTCTGTCTAAAAATGGGAAGCCTCAAATTTAACTAGATTTGATTATCACTTATTACTATATTATGTCTTATCTTTAGAAAGTGAGTCAGCAAATTAACGTTACAATGACACTCTTTTCTAGATGGTTAGTATGCTTTCTTCATCTACTTTCTATATACTTACTCACTGGAAAGAATCCATGTGATAATACTATGATACAGGCAATTATCCAGGAGCTAGTGTTAAAGTAATATTATCTGAGTTTAATGACTATCATTATAAATCTCAAATCATAGCTGGCTTAACAGCTACAAAATCACCAAATTTTGAAAAGTCCAACCCAGTTTGGTGCCCACTTTAAAATAACTCATATGGCAGAACAGATACAAGGTGAGCATCCCCACTCCGAAGTGCTCGAAAATCTGGGACTTTTTGAGTGCTTGCATGATGCTCAAAGAAAATGCTCACTGAAGCATTTTGGACTTGCCAATTAGAAATGCTCAACTGGTAAGTATAATGCAAACATTCCAAAATCTGAAACGCTTGGGGCTTCTGTATTTGTAATGCCTGTACTATACTGTATTTGTAATGCCATTTATTGACTTTTCATCAGTATCTTTTAGTAAAGATGCCATCATTCCAACTGCTTATTTCTTATGGTAGTTCGTCATTTCCTTAAGTTTCTGAGTATCAGTAGAGTATGTATCCACCCAGGTTAATCTACAATATGATACCAATTATCTTCAAGTCTCATAATATAGCATGCTTCTACCATAATTGTTTAAATTACCAGACACTCTCTAACTGAACAGCAACACTGTCTAAGCATATAAACAGATGCTAAACACTAGGGATTTCTAACTCCTATTATCAATGTAATGCTGATAGATTTCAGCTCCACAAGTGAAACATAAATATAACTGTCTTAAAGACTAAAATCAGCGGCCAAGGACCACCTTTCAGAGTTGTAAAAAACTCCTGTTATTCTTTCATACAACAATTAGCTTTGTTAATAATGCAACTCAGTAAGAGTTAGTTATAATGGTGTCTTAGATCTGTACAGTACTGAATGTTAACTTCAAGCTAACTGTAACTTTGTAGATTAAAAAGAGAAAAGGAACTCATAGGGGCAGGAAACCTTTTAAAAGCATTATTTTGTACTGTTGACTGCTTTCTTTTAGACAAGTTAATGTGAGCAGGGAAATAAGTGGTGGACATGGGTCCTGAGTGCAACTCTAGATGCTGATTTCTAAACAAGAAGCTAGCATTAACCACAACAAAACCACAAAATAGCTCCTCCATGATGATGTTGAAACATTCATAGCTATGTATTATTTCTGTCATCATTGTTGGAGGTTGGCGATGTCTGTCCTGTATCAATTTTCAGCAAGTAAAAATCTCCATCTAGTCGCCAGGCACGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCTGAGGTGGGTGGATCACCTGAGGTCAGGAGCTCGAGACCAGCCTGGCCAACATGGTGAAACCCTGTTGCTACTAAAAATACAAAATGAGCCGGGCGTGGTGGCGGGCGCCTGTAATCCCAGCTACTCGGGAGACTGAGGCAGGAGAATCATTGAACCCAGGAGGCAGAGGATGCAGTGAGCCAAGATTGCGCCATTGCACTCCAGCCTGGGCAACCAGAGTGAAACTTTGTCTCAAAAAAAAAAAAAAAAATCTCCATCTATTGGGAACCACTACACTGTGCTAAAAAGGCACTGTTCCACGTAGTGGA
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GGAAAAGAATTACTTGTTAATGACAAAAATACTGAGGATCCTTTTTTTTTTTTAATTAGAATAACTATTTGCAAAGACGACTTATTTTCAAACTGCTATGGTATAGTGGAAAAAAAAATCTAGTAGTCATGGAACCTGGATTTCATCCCTCTGCCACTAAACATAAACCATTTCCACTCTCTCTTTACACTTTTTAACTTAAATCATAATTATTTGAACATAAAATATAAGATTTGTCTAAAAAGTTGCAAATCTACAAAGCAAATCTTGAACAACATCTCTCTGGTGTTCTGCGATATGAAATAAATGTACTTTTCCATCCTAGAGATTTCTCTACATCTCACATTACTTCACCATAAACAGAATAGGGCCGAAATGTTCAGACTGATGGTGAAGGGAAAGCAAGTCAAGTGGCCCCATAGTGAGTCCACTGAAGAAATAACATATGAAGAGAAGAGTCATGAGAATCCTTGCCTCCATCAACAAACAGTAACTTTTATTTTGTTGATTTTATCTTTTATTCTTTTTGTATTTTTTAAAAATATTTTTTCTTCATTTTTAAACTGAAGAATCAGTTAACAGCAAACAGCAACATTAAACAATACAAAAGATGGAAATGTGTACTCCATATTGAAAACTTTTACGTCAGTTCCAACTCTGGTTAACAGACTGGGCTTTTTAGTAGGCTCTCAATATAAACCCAAGTGTATATGCTCTCTTTGTATTGTAATTAGGCTTTAATCAAAAAGGTAAAGTCTAAACAGCTACTGCAACATACAAATCTTTCATGTTATATGCATGGTTTTTCAGTTAAGAGTCTTAGTTTGGTTCTTTGGTCTTAGTTTTTAAATCTACCACCAAGTCAAATGCCTAATGCTAACAACCAATATTAGTATCTTTAAAAAGATTAGGACAAAGAGGTATAAAGAAAATATGGACATATTTTGAAAACTGAAAACTCTAGAGTTCATTGTATTATTCTCTCTACTATTATATGTTTGAAATTTTTCACACTAAAATAAAAAAGAATTAAGAAAGCAGTGCTCATCTTTAACTTTTCTTTAAATATTTAAAGCAACCACAAGCCCATTCATTATAAATTTATTCCCTGAGCTAATCTTTTTTTTTTTTTTTTTTCCAGATAGGGTCTCACTGTTGCTCAGGCTGGAGTGCCATGGCACAAACATGGTTCACAGCATCTTTAACCTCCTGCCTCAGTCTCTTAAAATAGCTGGGACTACAGGCATGTATCACCATGCCTACATGCTAGGCTAATTTTTAAATTTTTTGTAGGGACAAGGTCTTGCCACGTTGCCCAGGCTGGTCTCGAACTCCTGGGCTCAAGTGATCCTCCTGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCTTGAGCCACTATGTCTGGTCCGTGAACTAATCTTAATTGTTGTTCCAATCATTTCACTTATGGAAATTTATTAACGTAATTTTTAAGCACGAATTTTTTTTTTTTCTGGAGACAGCATCTTGATCTGTTGTGCAGGCTGGAGTGCAGTTGCACGATTGCAGCTCACTGCAGCCTTGACCTCCCAGGCTCAAGCAATCCTCCCACCCCAGTAGCTGGGACTACAGGCACACGCCACCATGCCAGGCTCATTTTTGTATTTTTTGTAGAGACAGGGTTTCGCCACATTGCCCAGGTTGGGGAAAATGTTATAGTAAAGAATCAAACATGAGGTCCAATAAATGCCGCCTACTGAATTTACCTATTTGGGTGCCCTTATTCTCTTGCTCTCTCCTGATCTATTTAAAATGCGGTTAATAACATCTACTACACGACTGTTTGTGAGGATGAGATCATGAATACGAAAAGAACTTTACAAACTATTAGTAGTAAACAAAAGTGCCAGTGTATACAGATAATTGTCCTTAATACTTAGTTATTATATTTACCTTTACATCATTATTTCCCACAGCAATTCCTATTTCTGCAAGGTCTTTTAGTAAAGATGCCATCATCTCAGCTGCTCGTTTTTTCTGGTGGTTGGTCATTTCCTTAAGTTTCTGAGGCTCAGCATCTATACTCGCTAAAGTTGCCTAAGAGAACCCAAAACAAAAAGTATAGTTAAATCTACTACATGAAAATTCAAATCAAATACTCATCGGTGTTTCAAGTTTTACACCAAGCCCTTACGAAACCATGTCTTTTCTGCTTTCATTTTTCTTGAACTATCTACCAGGTTCTGGGCTCCCAGCTCAAACTTAAAATATATTTTAGACCTAATAGGCTATGGTAAAAGTAGCCACATTGTTTTCAATTAAGAGCAGGCAGTTTCTGTTATTTCACTAAATTCCTGGGATTGAATAATATTTTCTGTCTAAAAATGGGAAGCCTCAAATTTAACTAGATTTGATTATCACTTATTACTATATTATGTCTTATCTTTAGAAAGTGAGTCAGCAAATTAACGTTACAATGACACTCTTTTCTAGATGGTTAGTATGCTTTCTTCATCTACTTTCTATATACTTACTCACTGGAAAGAATCCATGTGATAATACTATGATACAGGCAATTATCCAGGAGCTAGTGTTAAAGTAATATTATCTGAGTTTAATGACTATCATTATAAATCTCAAATCATAGCTGGCTTAACAGCTACAAAATCACCAAATTTTGAAAAGTCCAACCCAGTTTGGTGCCCACTTTAAAATAACTCATATGGCAGAACAGATACAAGGTGAGCATCCCCACTCCGAAGTGCTCGAAAATCTGGGACTTTTTGAGTGCTTGCATGATGCTCAAAGAAAATGCTCACTGAAGCATTTTGGACTTGCCAATTAGAAATGCTCAACTGGTAAGTATAATGCAAACATTCCAAAATCTGAAACGCTTGGGGCTTCTGTATTTGTAATGCCTGTACTATACTGTATTTGTAATGCCATTTATTGACTTTTCATCAGTATCTTTTAGTAAAGATGCCATCATTCCAACTGCTTATTTCTTATGGTAGTTCGTCATTTCCTTAAGTTTCTGAGTATCAGTAGAGTATGTATCCACCCAGGTTAATCTACAATATGATACCAATTATCTTCAAGTCTCATAATATAGCATGCTTCTACCATAATTGTTTAAATTACCAGACACTCTCTAACTGAACAGCAACACTGTCTAAGCATATAAACAGATGCTAAACACTAGGGATTTCTAACTCCTATTATCAATGTAATGCTGATAGATTTCAGCTCCACAAGTGAAACATAAATATAACTGTCTTAAAGACTAAAATCAGCGGCCAAGGACCACCTTTCAGAGTTGTAAAAAACTCCTGTTATTCTTTCATACAACAATTAGCTTTGTTAATAATGCAACTCAGTAAGAGTTAGTTATAATGGTGTCTTAGATCTGTACAGTACTGAATGTTAACTTCAAGCTAACTGTAACTTTGTAGATTAAAAAGAGAAAAGGAACTCATAGGGGCAGGAAACCTTTTAAAAGCATTATTTTGTACTGTTGACTGCTTTCTTTTAGACAAGTTAATGTGAGCAGGGAAATAAGTGGTGGACATGGGTCCTGAGTGCAACTCTAGATGCTGATTTCTAAACAAGAAGCTAGCATTAACCACAACAAAACCACAAAATAGCTCCTCCATGATGATGTTGAAACATTCATAGCTATGTATTATTTCTGTCATCATTGTTGGAGGTTGGCGATGTCTGTCCTGTATCAATTTTCAGCAAGTAAAAATCTCCATCTAGTCGCCAGGCACGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCTGAGGTGGGTGGATCACCTGAGGTCAGGAGCTCGAGACCAGCCTGGCCAACATGGTGAAACCCTGTTGCTACTAAAAATACAAAATGAGCCGGGCGTGGTGGCGGGCGCCTGTAATCCCAGCTACTCGGGAGACTGAGGCAGGAGAATCATTGAACCCAGGAGGCAGAGGATGCAGTGAGCCAAGATTGCGCCATTGCACTCCAGCCTGGGCAACCAGAGTGAAACTTTGTCTCAAAAAAAAAAAAAAAAATCTCCATCTATTGGGAACCACTACACTGTGCTAAAAAGGCACTGTTCCACGTAGTGGA
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Task1_train_13696
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Mutation context: Chromosome 10, Gene KIF5B (kinesin family member 5B). Determine if this variant is likely to be benign or pathogenic. Mention the disease if applicable.
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Pathogenic; KIF5B-related developmental disorder
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GGAAAAGAATTACTTGTTAATGACAAAAATACTGAGGATCCTTTTTTTTTTTTAATTAGAATAACTATTTGCAAAGACGACTTATTTTCAAACTGCTATGGTATAGTGGAAAAAAAAATCTAGTAGTCATGGAACCTGGATTTCATCCCTCTGCCACTAAACATAAACCATTTCCACTCTCTCTTTACACTTTTTAACTTAAATCATAATTATTTGAACATAAAATATAAGATTTGTCTAAAAAGTTGCAAATCTACAAAGCAAATCTTGAACAACATCTCTCTGGTGTTCTGCGATATGAAATAAATGTACTTTTCCATCCTAGAGATTTCTCTACATCTCACATTACTTCACCATAAACAGAATAGGGCCGAAATGTTCAGACTGATGGTGAAGGGAAAGCAAGTCAAGTGGCCCCATAGTGAGTCCACTGAAGAAATAACATATGAAGAGAAGAGTCATGAGAATCCTTGCCTCCATCAACAAACAGTAACTTTTATTTTGTTGATTTTATCTTTTATTCTTTTTGTATTTTTTAAAAATATTTTTTCTTCATTTTTAAACTGAAGAATCAGTTAACAGCAAACAGCAACATTAAACAATACAAAAGATGGAAATGTGTACTCCATATTGAAAACTTTTACGTCAGTTCCAACTCTGGTTAACAGACTGGGCTTTTTAGTAGGCTCTCAATATAAACCCAAGTGTATATGCTCTCTTTGTATTGTAATTAGGCTTTAATCAAAAAGGTAAAGTCTAAACAGCTACTGCAACATACAAATCTTTCATGTTATATGCATGGTTTTTCAGTTAAGAGTCTTAGTTTGGTTCTTTGGTCTTAGTTTTTAAATCTACCACCAAGTCAAATGCCTAATGCTAACAACCAATATTAGTATCTTTAAAAAGATTAGGACAAAGAGGTATAAAGAAAATATGGACATATTTTGAAAACTGAAAACTCTAGAGTTCATTGTATTATTCTCTCTACTATTATATGTTTGAAATTTTTCACACTAAAATAAAAAAGAATTAAGAAAGCAGTGCTCATCTTTAACTTTTCTTTAAATATTTAAAGCAACCACAAGCCCATTCATTATAAATTTATTCCCTGAGCTAATCTTTTTTTTTTTTTTTTTTCCAGATAGGGTCTCACTGTTGCTCAGGCTGGAGTGCCATGGCACAAACATGGTTCACAGCATCTTTAACCTCCTGCCTCAGTCTCTTAAAATAGCTGGGACTACAGGCATGTATCACCATGCCTACATGCTAGGCTAATTTTTAAATTTTTTGTAGGGACAAGGTCTTGCCACGTTGCCCAGGCTGGTCTCGAACTCCTGGGCTCAAGTGATCCTCCTGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCTTGAGCCACTATGTCTGGTCCGTGAACTAATCTTAATTGTTGTTCCAATCATTTCACTTATGGAAATTTATTAACGTAATTTTTAAGCACGAATTTTTTTTTTTTCTGGAGACAGCATCTTGATCTGTTGTGCAGGCTGGAGTGCAGTTGCACGATTGCAGCTCACTGCAGCCTTGACCTCCCAGGCTCAAGCAATCCTCCCACCCCAGTAGCTGGGACTACAGGCACACGCCACCATGCCAGGCTCATTTTTGTATTTTTTGTAGAGACAGGGTTTCGCCACATTGCCCAGGTTGGGGAAAATGTTATAGTAAAGAATCAAACATGAGGTCCAATAAATGCCGCCTACTGAATTTACCTATTTGGGTGCCCTTATTCTCTTGCTCTCTCCTGATCTATTTAAAATGCGGTTAATAACATCTACTACACGACTGTTTGTGAGGATGAGATCATGAATACGAAAAGAACTTTACAAACTATTAGTAGTAAACAAAAGTGCCAGTGTATACAGATAATTGTCCTTAATACTTAGTTATTATATTTACCTTTACATCATTATTTCCCACAGCAATTCCTATTTCTGCAAGGTCTTTTAGTAAAGATGCCATCATCTCAGCTGCTCGTTTTTTCTGGTGGTTGGTCATTTCCTTAAGTTTCTGAAGCTCAGCATCTATACTCGCTAAAGTTGCCTAAGAGAACCCAAAACAAAAAGTATAGTTAAATCTACTACATGAAAATTCAAATCAAATACTCATCGGTGTTTCAAGTTTTACACCAAGCCCTTACGAAACCATGTCTTTTCTGCTTTCATTTTTCTTGAACTATCTACCAGGTTCTGGGCTCCCAGCTCAAACTTAAAATATATTTTAGACCTAATAGGCTATGGTAAAAGTAGCCACATTGTTTTCAATTAAGAGCAGGCAGTTTCTGTTATTTCACTAAATTCCTGGGATTGAATAATATTTTCTGTCTAAAAATGGGAAGCCTCAAATTTAACTAGATTTGATTATCACTTATTACTATATTATGTCTTATCTTTAGAAAGTGAGTCAGCAAATTAACGTTACAATGACACTCTTTTCTAGATGGTTAGTATGCTTTCTTCATCTACTTTCTATATACTTACTCACTGGAAAGAATCCATGTGATAATACTATGATACAGGCAATTATCCAGGAGCTAGTGTTAAAGTAATATTATCTGAGTTTAATGACTATCATTATAAATCTCAAATCATAGCTGGCTTAACAGCTACAAAATCACCAAATTTTGAAAAGTCCAACCCAGTTTGGTGCCCACTTTAAAATAACTCATATGGCAGAACAGATACAAGGTGAGCATCCCCACTCCGAAGTGCTCGAAAATCTGGGACTTTTTGAGTGCTTGCATGATGCTCAAAGAAAATGCTCACTGAAGCATTTTGGACTTGCCAATTAGAAATGCTCAACTGGTAAGTATAATGCAAACATTCCAAAATCTGAAACGCTTGGGGCTTCTGTATTTGTAATGCCTGTACTATACTGTATTTGTAATGCCATTTATTGACTTTTCATCAGTATCTTTTAGTAAAGATGCCATCATTCCAACTGCTTATTTCTTATGGTAGTTCGTCATTTCCTTAAGTTTCTGAGTATCAGTAGAGTATGTATCCACCCAGGTTAATCTACAATATGATACCAATTATCTTCAAGTCTCATAATATAGCATGCTTCTACCATAATTGTTTAAATTACCAGACACTCTCTAACTGAACAGCAACACTGTCTAAGCATATAAACAGATGCTAAACACTAGGGATTTCTAACTCCTATTATCAATGTAATGCTGATAGATTTCAGCTCCACAAGTGAAACATAAATATAACTGTCTTAAAGACTAAAATCAGCGGCCAAGGACCACCTTTCAGAGTTGTAAAAAACTCCTGTTATTCTTTCATACAACAATTAGCTTTGTTAATAATGCAACTCAGTAAGAGTTAGTTATAATGGTGTCTTAGATCTGTACAGTACTGAATGTTAACTTCAAGCTAACTGTAACTTTGTAGATTAAAAAGAGAAAAGGAACTCATAGGGGCAGGAAACCTTTTAAAAGCATTATTTTGTACTGTTGACTGCTTTCTTTTAGACAAGTTAATGTGAGCAGGGAAATAAGTGGTGGACATGGGTCCTGAGTGCAACTCTAGATGCTGATTTCTAAACAAGAAGCTAGCATTAACCACAACAAAACCACAAAATAGCTCCTCCATGATGATGTTGAAACATTCATAGCTATGTATTATTTCTGTCATCATTGTTGGAGGTTGGCGATGTCTGTCCTGTATCAATTTTCAGCAAGTAAAAATCTCCATCTAGTCGCCAGGCACGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCTGAGGTGGGTGGATCACCTGAGGTCAGGAGCTCGAGACCAGCCTGGCCAACATGGTGAAACCCTGTTGCTACTAAAAATACAAAATGAGCCGGGCGTGGTGGCGGGCGCCTGTAATCCCAGCTACTCGGGAGACTGAGGCAGGAGAATCATTGAACCCAGGAGGCAGAGGATGCAGTGAGCCAAGATTGCGCCATTGCACTCCAGCCTGGGCAACCAGAGTGAAACTTTGTCTCAAAAAAAAAAAAAAAAATCTCCATCTATTGGGAACCACTACACTGTGCTAAAAAGGCACTGTTCCACGTAGTGGA
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GGAAAAGAATTACTTGTTAATGACAAAAATACTGAGGATCCTTTTTTTTTTTTAATTAGAATAACTATTTGCAAAGACGACTTATTTTCAAACTGCTATGGTATAGTGGAAAAAAAAATCTAGTAGTCATGGAACCTGGATTTCATCCCTCTGCCACTAAACATAAACCATTTCCACTCTCTCTTTACACTTTTTAACTTAAATCATAATTATTTGAACATAAAATATAAGATTTGTCTAAAAAGTTGCAAATCTACAAAGCAAATCTTGAACAACATCTCTCTGGTGTTCTGCGATATGAAATAAATGTACTTTTCCATCCTAGAGATTTCTCTACATCTCACATTACTTCACCATAAACAGAATAGGGCCGAAATGTTCAGACTGATGGTGAAGGGAAAGCAAGTCAAGTGGCCCCATAGTGAGTCCACTGAAGAAATAACATATGAAGAGAAGAGTCATGAGAATCCTTGCCTCCATCAACAAACAGTAACTTTTATTTTGTTGATTTTATCTTTTATTCTTTTTGTATTTTTTAAAAATATTTTTTCTTCATTTTTAAACTGAAGAATCAGTTAACAGCAAACAGCAACATTAAACAATACAAAAGATGGAAATGTGTACTCCATATTGAAAACTTTTACGTCAGTTCCAACTCTGGTTAACAGACTGGGCTTTTTAGTAGGCTCTCAATATAAACCCAAGTGTATATGCTCTCTTTGTATTGTAATTAGGCTTTAATCAAAAAGGTAAAGTCTAAACAGCTACTGCAACATACAAATCTTTCATGTTATATGCATGGTTTTTCAGTTAAGAGTCTTAGTTTGGTTCTTTGGTCTTAGTTTTTAAATCTACCACCAAGTCAAATGCCTAATGCTAACAACCAATATTAGTATCTTTAAAAAGATTAGGACAAAGAGGTATAAAGAAAATATGGACATATTTTGAAAACTGAAAACTCTAGAGTTCATTGTATTATTCTCTCTACTATTATATGTTTGAAATTTTTCACACTAAAATAAAAAAGAATTAAGAAAGCAGTGCTCATCTTTAACTTTTCTTTAAATATTTAAAGCAACCACAAGCCCATTCATTATAAATTTATTCCCTGAGCTAATCTTTTTTTTTTTTTTTTTTCCAGATAGGGTCTCACTGTTGCTCAGGCTGGAGTGCCATGGCACAAACATGGTTCACAGCATCTTTAACCTCCTGCCTCAGTCTCTTAAAATAGCTGGGACTACAGGCATGTATCACCATGCCTACATGCTAGGCTAATTTTTAAATTTTTTGTAGGGACAAGGTCTTGCCACGTTGCCCAGGCTGGTCTCGAACTCCTGGGCTCAAGTGATCCTCCTGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCTTGAGCCACTATGTCTGGTCCGTGAACTAATCTTAATTGTTGTTCCAATCATTTCACTTATGGAAATTTATTAACGTAATTTTTAAGCACGAATTTTTTTTTTTTCTGGAGACAGCATCTTGATCTGTTGTGCAGGCTGGAGTGCAGTTGCACGATTGCAGCTCACTGCAGCCTTGACCTCCCAGGCTCAAGCAATCCTCCCACCCCAGTAGCTGGGACTACAGGCACACGCCACCATGCCAGGCTCATTTTTGTATTTTTTGTAGAGACAGGGTTTCGCCACATTGCCCAGGTTGGGGAAAATGTTATAGTAAAGAATCAAACATGAGGTCCAATAAATGCCGCCTACTGAATTTACCTATTTGGGTGCCCTTATTCTCTTGCTCTCTCCTGATCTATTTAAAATGCGGTTAATAACATCTACTACACGACTGTTTGTGAGGATGAGATCATGAATACGAAAAGAACTTTACAAACTATTAGTAGTAAACAAAAGTGCCAGTGTATACAGATAATTGTCCTTAATACTTAGTTATTATATTTACCTTTACATCATTATTTCCCACAGCAATTCCTATTTCTGCAAGGTCTTTTAGTAAAGATGCCATCATCTCAGCTGCTCGTTTTTTCTGGTGGTTGGTCATTTCCTTAAGTTTCTGAGGCTCAGCATCTATACTCGCTAAAGTTGCCTAAGAGAACCCAAAACAAAAAGTATAGTTAAATCTACTACATGAAAATTCAAATCAAATACTCATCGGTGTTTCAAGTTTTACACCAAGCCCTTACGAAACCATGTCTTTTCTGCTTTCATTTTTCTTGAACTATCTACCAGGTTCTGGGCTCCCAGCTCAAACTTAAAATATATTTTAGACCTAATAGGCTATGGTAAAAGTAGCCACATTGTTTTCAATTAAGAGCAGGCAGTTTCTGTTATTTCACTAAATTCCTGGGATTGAATAATATTTTCTGTCTAAAAATGGGAAGCCTCAAATTTAACTAGATTTGATTATCACTTATTACTATATTATGTCTTATCTTTAGAAAGTGAGTCAGCAAATTAACGTTACAATGACACTCTTTTCTAGATGGTTAGTATGCTTTCTTCATCTACTTTCTATATACTTACTCACTGGAAAGAATCCATGTGATAATACTATGATACAGGCAATTATCCAGGAGCTAGTGTTAAAGTAATATTATCTGAGTTTAATGACTATCATTATAAATCTCAAATCATAGCTGGCTTAACAGCTACAAAATCACCAAATTTTGAAAAGTCCAACCCAGTTTGGTGCCCACTTTAAAATAACTCATATGGCAGAACAGATACAAGGTGAGCATCCCCACTCCGAAGTGCTCGAAAATCTGGGACTTTTTGAGTGCTTGCATGATGCTCAAAGAAAATGCTCACTGAAGCATTTTGGACTTGCCAATTAGAAATGCTCAACTGGTAAGTATAATGCAAACATTCCAAAATCTGAAACGCTTGGGGCTTCTGTATTTGTAATGCCTGTACTATACTGTATTTGTAATGCCATTTATTGACTTTTCATCAGTATCTTTTAGTAAAGATGCCATCATTCCAACTGCTTATTTCTTATGGTAGTTCGTCATTTCCTTAAGTTTCTGAGTATCAGTAGAGTATGTATCCACCCAGGTTAATCTACAATATGATACCAATTATCTTCAAGTCTCATAATATAGCATGCTTCTACCATAATTGTTTAAATTACCAGACACTCTCTAACTGAACAGCAACACTGTCTAAGCATATAAACAGATGCTAAACACTAGGGATTTCTAACTCCTATTATCAATGTAATGCTGATAGATTTCAGCTCCACAAGTGAAACATAAATATAACTGTCTTAAAGACTAAAATCAGCGGCCAAGGACCACCTTTCAGAGTTGTAAAAAACTCCTGTTATTCTTTCATACAACAATTAGCTTTGTTAATAATGCAACTCAGTAAGAGTTAGTTATAATGGTGTCTTAGATCTGTACAGTACTGAATGTTAACTTCAAGCTAACTGTAACTTTGTAGATTAAAAAGAGAAAAGGAACTCATAGGGGCAGGAAACCTTTTAAAAGCATTATTTTGTACTGTTGACTGCTTTCTTTTAGACAAGTTAATGTGAGCAGGGAAATAAGTGGTGGACATGGGTCCTGAGTGCAACTCTAGATGCTGATTTCTAAACAAGAAGCTAGCATTAACCACAACAAAACCACAAAATAGCTCCTCCATGATGATGTTGAAACATTCATAGCTATGTATTATTTCTGTCATCATTGTTGGAGGTTGGCGATGTCTGTCCTGTATCAATTTTCAGCAAGTAAAAATCTCCATCTAGTCGCCAGGCACGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCTGAGGTGGGTGGATCACCTGAGGTCAGGAGCTCGAGACCAGCCTGGCCAACATGGTGAAACCCTGTTGCTACTAAAAATACAAAATGAGCCGGGCGTGGTGGCGGGCGCCTGTAATCCCAGCTACTCGGGAGACTGAGGCAGGAGAATCATTGAACCCAGGAGGCAGAGGATGCAGTGAGCCAAGATTGCGCCATTGCACTCCAGCCTGGGCAACCAGAGTGAAACTTTGTCTCAAAAAAAAAAAAAAAAATCTCCATCTATTGGGAACCACTACACTGTGCTAAAAAGGCACTGTTCCACGTAGTGGA
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Task1_train_13697
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This alteration in KIF5B (kinesin family member 5B) on Chromosome 10 may affect gene function. Does it lead to a disease or is it benign?
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Pathogenic; Severe muscular hypotonia
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AAATCATAGCTGGCTTAACAGCTACAAAATCACCAAATTTTGAAAAGTCCAACCCAGTTTGGTGCCCACTTTAAAATAACTCATATGGCAGAACAGATACAAGGTGAGCATCCCCACTCCGAAGTGCTCGAAAATCTGGGACTTTTTGAGTGCTTGCATGATGCTCAAAGAAAATGCTCACTGAAGCATTTTGGACTTGCCAATTAGAAATGCTCAACTGGTAAGTATAATGCAAACATTCCAAAATCTGAAACGCTTGGGGCTTCTGTATTTGTAATGCCTGTACTATACTGTATTTGTAATGCCATTTATTGACTTTTCATCAGTATCTTTTAGTAAAGATGCCATCATTCCAACTGCTTATTTCTTATGGTAGTTCGTCATTTCCTTAAGTTTCTGAGTATCAGTAGAGTATGTATCCACCCAGGTTAATCTACAATATGATACCAATTATCTTCAAGTCTCATAATATAGCATGCTTCTACCATAATTGTTTAAATTACCAGACACTCTCTAACTGAACAGCAACACTGTCTAAGCATATAAACAGATGCTAAACACTAGGGATTTCTAACTCCTATTATCAATGTAATGCTGATAGATTTCAGCTCCACAAGTGAAACATAAATATAACTGTCTTAAAGACTAAAATCAGCGGCCAAGGACCACCTTTCAGAGTTGTAAAAAACTCCTGTTATTCTTTCATACAACAATTAGCTTTGTTAATAATGCAACTCAGTAAGAGTTAGTTATAATGGTGTCTTAGATCTGTACAGTACTGAATGTTAACTTCAAGCTAACTGTAACTTTGTAGATTAAAAAGAGAAAAGGAACTCATAGGGGCAGGAAACCTTTTAAAAGCATTATTTTGTACTGTTGACTGCTTTCTTTTAGACAAGTTAATGTGAGCAGGGAAATAAGTGGTGGACATGGGTCCTGAGTGCAACTCTAGATGCTGATTTCTAAACAAGAAGCTAGCATTAACCACAACAAAACCACAAAATAGCTCCTCCATGATGATGTTGAAACATTCATAGCTATGTATTATTTCTGTCATCATTGTTGGAGGTTGGCGATGTCTGTCCTGTATCAATTTTCAGCAAGTAAAAATCTCCATCTAGTCGCCAGGCACGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCTGAGGTGGGTGGATCACCTGAGGTCAGGAGCTCGAGACCAGCCTGGCCAACATGGTGAAACCCTGTTGCTACTAAAAATACAAAATGAGCCGGGCGTGGTGGCGGGCGCCTGTAATCCCAGCTACTCGGGAGACTGAGGCAGGAGAATCATTGAACCCAGGAGGCAGAGGATGCAGTGAGCCAAGATTGCGCCATTGCACTCCAGCCTGGGCAACCAGAGTGAAACTTTGTCTCAAAAAAAAAAAAAAAAATCTCCATCTATTGGGAACCACTACACTGTGCTAAAAAGGCACTGTTCCACGTAGTGGAAATGTAACAGTAAGTAAAACATAAATTATGTTAAGTTACATATCCTTACATCTATTCCAAATAATTCACAGTTGATTAAATAGCATTTTAATTTGTACTGCATATTTAATTTATTGTTTGAACAATCATCTAATAGCTTTATTGGGCAACTAGCAGCTTTAAATTATTTTTCCTTTAACATTAGTAGTAACATTAGATTCTACATGCTATATACTAAATTAAAAAAATTAAAATTAGGAGTAGCAAACATCCTCTAAAACAGCATTTAAATTAGATATTAACAGACCTTTAGGAACTAAAATAACTGTCTTCCTCCACCTCTAAGGCTTCATATACAGAAAGAAATGAAGTTGAAACCCGAGTCCTTGAAAATTGATGTTATCGATATTTGACTTACATAGAAAAGTAAGTTATTTAAGTAGTTTTTAGGTTAAGAATACTTGTACTAAAGCATTAAAAAAGAAAATAAAACTATATCCTACCGATTTCTGATTCAATTCATCACTAAGCAATTCATATTCCTTAGTTTTGTCTTCAACTTCCTGAGACTTCTGATCATAATTGACAGCAAGTTCTTCTAGGGCCTGTAAAACTTCTTTCACTTCTTCTTTAGAGGCATCATTTTCTGCTTGAAGGCGATTCAGCTCAGCTTGCATATTGTCTTGATCCCTTCTGGTAGATGCCAAAAGCTATAGGACAGAAAATAATTTATTTTCCCCAAAAGTATACAGGTTTTAAAAAACACCCATGAAGCTTCACCATTTGTCAAGAACAAATGGAGTGAAATATGGATGGTATTCAGTGTGGCAACATTTATTCATTAAACAGATTTACTAAATGTCAACTATGTGCAGGCACTGTGCTGGATGCTGCAAGGCAGAAAGAAAATCAAAGACTGTGTTTAAGGAACACAGTAGAAGAGAAGATAGGCACATGAATAAGTGCAGTACAAGATAGAAGGTCAGAACCATAAGAGAGGGACAGGACAGATAAAGTGCTTAGTAATACAGGAAAGAGTATTCATTCATGGAGAAGTTGGCTAGGAGAGATCGACTGCAGTCACATGCAAATTAATGTAATAAAGGAAAATGGCATTCTACAAGAGTTGCTTAAAAATTTAGATTTGGGCCAGGCGGGGTGGCTCACGCCTGTAATCCCAGCATTTTGGGAGGCCGAGGCGGGCGGATCACAAGGTCAGGAGTTTGAGACCAGCCTGACCAACATGGTGAAATCCCGTCTCTACTAAAAATACCAAAAAATTAGCCAGGCGTGGTGGCGGGCGCCTGTAATCCCAGCTACTCGGGAGGCTGAGGCAGAAGAGTCGCTTGAACCTGGGAGGTGGAGGTTGCAGTGAGCCAAGATCACGCCGCTGCACTCCAGCCTGGGGAACAAGAGCAAGACTTCGCCTCAAAAACAAAAACAAAACCTGGTATCAGCACATAAAATCTGAACTGCAGGGATGCCAAGAGACTAGTTAGGAGAAAACCACAATCATCCACATTAGTGGCTCTCCTGTAGGGATATCCGGAAATCTGTGGGAGTGTTAATAATAGGGTAGAATGCTAATGGCATTTAGGAGTAGGGACCAGGAATGTTTAATGTCCTATAATACAAAGGACAGAATAACATAAATTATCCAATGCAAAATATCAATAGTGCCCCTTTGAGGAATAATGCTATAGTTGAAATATGAAATGCTATAGTTGAAAGATGATCTGACCAGGATTAAGTTCACTGATGGAGAGTATCTCTTTCTTACCGAAGCAGTCTTTGTCTTCACCCTGCCCACCACCCCCACAAAAAAATTTAAAGGACTGCTTTTCAATTATCCCCCTGCTCTGCTGGGTGAGAAGATAAAATGAGGATCCAAAGTAAGTGACAAGAAGAGAAATGTCAAGAACCAGGGTGAAAAAAAAGATGGCGGAAATGAACAACAGATTGTATCTGGGTAGATACGATGAATAAGTAAAAATTCACTTTATCCATGTGACATTCTTATTCCCACAAAGACAGTCATACCCAAAATTATACAACTATTAAAGACAAAGTCAATGGGATTCAGAAAACAAAACTATAAAGCTTTTCTGGAAGCAATGTAAAAGGTATTCAACTCACCTCCTCCTGATCCAACATTTGCGTCTTCAGTTTCTCTACCAGTTGACTTTGCTGGTTAATTTCTTCATCCTAGAATTGTGAAGTATCCGGTTAACCAGTAGCTAACAACCTGGTTCTAGTTGTTTCCCAATACAGGTTATAAGATTACTACTCCCCAGAAATATTTCAAAACCATTTCTCTAAATTCAACATTGCTTATTTTAATCTCTTTTAAGAAAATGGCAAAACAAAAGGAATTTCTTTCAATTATCAATACTTATAATGGTCATGTACTTCGAACCTGCCATCTCTGCTTAAAATATATTAAAAATATCAACTTAAGAAAATATTTTCTTCTAATCTCTTTACTACTCTTGTTCTTGCCTTCCATTCTATTACGTTCTTAGTTTGCTATTATTCATACTATTGACATTACTTCTATATGCAAAGCAGGAAGATATTATTTCCACTCTATTGTGTTTCCCTTAATCTCTCACATCATCTTTTATTGGAGTCTTCAGAGC
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AAATCATAGCTGGCTTAACAGCTACAAAATCACCAAATTTTGAAAAGTCCAACCCAGTTTGGTGCCCACTTTAAAATAACTCATATGGCAGAACAGATACAAGGTGAGCATCCCCACTCCGAAGTGCTCGAAAATCTGGGACTTTTTGAGTGCTTGCATGATGCTCAAAGAAAATGCTCACTGAAGCATTTTGGACTTGCCAATTAGAAATGCTCAACTGGTAAGTATAATGCAAACATTCCAAAATCTGAAACGCTTGGGGCTTCTGTATTTGTAATGCCTGTACTATACTGTATTTGTAATGCCATTTATTGACTTTTCATCAGTATCTTTTAGTAAAGATGCCATCATTCCAACTGCTTATTTCTTATGGTAGTTCGTCATTTCCTTAAGTTTCTGAGTATCAGTAGAGTATGTATCCACCCAGGTTAATCTACAATATGATACCAATTATCTTCAAGTCTCATAATATAGCATGCTTCTACCATAATTGTTTAAATTACCAGACACTCTCTAACTGAACAGCAACACTGTCTAAGCATATAAACAGATGCTAAACACTAGGGATTTCTAACTCCTATTATCAATGTAATGCTGATAGATTTCAGCTCCACAAGTGAAACATAAATATAACTGTCTTAAAGACTAAAATCAGCGGCCAAGGACCACCTTTCAGAGTTGTAAAAAACTCCTGTTATTCTTTCATACAACAATTAGCTTTGTTAATAATGCAACTCAGTAAGAGTTAGTTATAATGGTGTCTTAGATCTGTACAGTACTGAATGTTAACTTCAAGCTAACTGTAACTTTGTAGATTAAAAAGAGAAAAGGAACTCATAGGGGCAGGAAACCTTTTAAAAGCATTATTTTGTACTGTTGACTGCTTTCTTTTAGACAAGTTAATGTGAGCAGGGAAATAAGTGGTGGACATGGGTCCTGAGTGCAACTCTAGATGCTGATTTCTAAACAAGAAGCTAGCATTAACCACAACAAAACCACAAAATAGCTCCTCCATGATGATGTTGAAACATTCATAGCTATGTATTATTTCTGTCATCATTGTTGGAGGTTGGCGATGTCTGTCCTGTATCAATTTTCAGCAAGTAAAAATCTCCATCTAGTCGCCAGGCACGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCTGAGGTGGGTGGATCACCTGAGGTCAGGAGCTCGAGACCAGCCTGGCCAACATGGTGAAACCCTGTTGCTACTAAAAATACAAAATGAGCCGGGCGTGGTGGCGGGCGCCTGTAATCCCAGCTACTCGGGAGACTGAGGCAGGAGAATCATTGAACCCAGGAGGCAGAGGATGCAGTGAGCCAAGATTGCGCCATTGCACTCCAGCCTGGGCAACCAGAGTGAAACTTTGTCTCAAAAAAAAAAAAAAAAATCTCCATCTATTGGGAACCACTACACTGTGCTAAAAAGGCACTGTTCCACGTAGTGGAAATGTAACAGTAAGTAAAACATAAATTATGTTAAGTTACATATCCTTACATCTATTCCAAATAATTCACAGTTGATTAAATAGCATTTTAATTTGTACTGCATATTTAATTTATTGTTTGAACAATCATCTAATAGCTTTATTGGGCAACTAGCAGCTTTAAATTATTTTTCCTTTAACATTAGTAGTAACATTAGATTCTACATGCTATATACTAAATTAAAAAAATTAAAATTAGGAGTAGCAAACATCCTCTAAAACAGCATTTAAATTAGATATTAACAGACCTTTAGGAACTAAAATAACTGTCTTCCTCCACCTCTAAGGCTTCATATACAGAAAGAAATGAAGTTGAAACCCGAGTCCTTGAAAATTGATGTTATCGATATTTGACTTACATAGAAAAGTAAGTTATTTAAGTAGTTTTTAGGTTAAGAATACTTGTACTAAAGCATTAAAAAAGAAAATAAAACTATATCCTACCGATTTCTGATTCAATTCATCACTAAGCAATTCATATTCCTTAGTTTTGTCTTCAACTTCCTGAGACTTCTGATCATAATTGACAGCAGGTTCTTCTAGGGCCTGTAAAACTTCTTTCACTTCTTCTTTAGAGGCATCATTTTCTGCTTGAAGGCGATTCAGCTCAGCTTGCATATTGTCTTGATCCCTTCTGGTAGATGCCAAAAGCTATAGGACAGAAAATAATTTATTTTCCCCAAAAGTATACAGGTTTTAAAAAACACCCATGAAGCTTCACCATTTGTCAAGAACAAATGGAGTGAAATATGGATGGTATTCAGTGTGGCAACATTTATTCATTAAACAGATTTACTAAATGTCAACTATGTGCAGGCACTGTGCTGGATGCTGCAAGGCAGAAAGAAAATCAAAGACTGTGTTTAAGGAACACAGTAGAAGAGAAGATAGGCACATGAATAAGTGCAGTACAAGATAGAAGGTCAGAACCATAAGAGAGGGACAGGACAGATAAAGTGCTTAGTAATACAGGAAAGAGTATTCATTCATGGAGAAGTTGGCTAGGAGAGATCGACTGCAGTCACATGCAAATTAATGTAATAAAGGAAAATGGCATTCTACAAGAGTTGCTTAAAAATTTAGATTTGGGCCAGGCGGGGTGGCTCACGCCTGTAATCCCAGCATTTTGGGAGGCCGAGGCGGGCGGATCACAAGGTCAGGAGTTTGAGACCAGCCTGACCAACATGGTGAAATCCCGTCTCTACTAAAAATACCAAAAAATTAGCCAGGCGTGGTGGCGGGCGCCTGTAATCCCAGCTACTCGGGAGGCTGAGGCAGAAGAGTCGCTTGAACCTGGGAGGTGGAGGTTGCAGTGAGCCAAGATCACGCCGCTGCACTCCAGCCTGGGGAACAAGAGCAAGACTTCGCCTCAAAAACAAAAACAAAACCTGGTATCAGCACATAAAATCTGAACTGCAGGGATGCCAAGAGACTAGTTAGGAGAAAACCACAATCATCCACATTAGTGGCTCTCCTGTAGGGATATCCGGAAATCTGTGGGAGTGTTAATAATAGGGTAGAATGCTAATGGCATTTAGGAGTAGGGACCAGGAATGTTTAATGTCCTATAATACAAAGGACAGAATAACATAAATTATCCAATGCAAAATATCAATAGTGCCCCTTTGAGGAATAATGCTATAGTTGAAATATGAAATGCTATAGTTGAAAGATGATCTGACCAGGATTAAGTTCACTGATGGAGAGTATCTCTTTCTTACCGAAGCAGTCTTTGTCTTCACCCTGCCCACCACCCCCACAAAAAAATTTAAAGGACTGCTTTTCAATTATCCCCCTGCTCTGCTGGGTGAGAAGATAAAATGAGGATCCAAAGTAAGTGACAAGAAGAGAAATGTCAAGAACCAGGGTGAAAAAAAAGATGGCGGAAATGAACAACAGATTGTATCTGGGTAGATACGATGAATAAGTAAAAATTCACTTTATCCATGTGACATTCTTATTCCCACAAAGACAGTCATACCCAAAATTATACAACTATTAAAGACAAAGTCAATGGGATTCAGAAAACAAAACTATAAAGCTTTTCTGGAAGCAATGTAAAAGGTATTCAACTCACCTCCTCCTGATCCAACATTTGCGTCTTCAGTTTCTCTACCAGTTGACTTTGCTGGTTAATTTCTTCATCCTAGAATTGTGAAGTATCCGGTTAACCAGTAGCTAACAACCTGGTTCTAGTTGTTTCCCAATACAGGTTATAAGATTACTACTCCCCAGAAATATTTCAAAACCATTTCTCTAAATTCAACATTGCTTATTTTAATCTCTTTTAAGAAAATGGCAAAACAAAAGGAATTTCTTTCAATTATCAATACTTATAATGGTCATGTACTTCGAACCTGCCATCTCTGCTTAAAATATATTAAAAATATCAACTTAAGAAAATATTTTCTTCTAATCTCTTTACTACTCTTGTTCTTGCCTTCCATTCTATTACGTTCTTAGTTTGCTATTATTCATACTATTGACATTACTTCTATATGCAAAGCAGGAAGATATTATTTCCACTCTATTGTGTTTCCCTTAATCTCTCACATCATCTTTTATTGGAGTCTTCAGAGC
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Task1_train_13698
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A genomic change on Chromosome 10 affects KIF5B (kinesin family member 5B). Classify this variant as benign or pathogenic, and name the disease if relevant.
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Pathogenic; Fatigable weakness of swallowing muscles
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AAATCATAGCTGGCTTAACAGCTACAAAATCACCAAATTTTGAAAAGTCCAACCCAGTTTGGTGCCCACTTTAAAATAACTCATATGGCAGAACAGATACAAGGTGAGCATCCCCACTCCGAAGTGCTCGAAAATCTGGGACTTTTTGAGTGCTTGCATGATGCTCAAAGAAAATGCTCACTGAAGCATTTTGGACTTGCCAATTAGAAATGCTCAACTGGTAAGTATAATGCAAACATTCCAAAATCTGAAACGCTTGGGGCTTCTGTATTTGTAATGCCTGTACTATACTGTATTTGTAATGCCATTTATTGACTTTTCATCAGTATCTTTTAGTAAAGATGCCATCATTCCAACTGCTTATTTCTTATGGTAGTTCGTCATTTCCTTAAGTTTCTGAGTATCAGTAGAGTATGTATCCACCCAGGTTAATCTACAATATGATACCAATTATCTTCAAGTCTCATAATATAGCATGCTTCTACCATAATTGTTTAAATTACCAGACACTCTCTAACTGAACAGCAACACTGTCTAAGCATATAAACAGATGCTAAACACTAGGGATTTCTAACTCCTATTATCAATGTAATGCTGATAGATTTCAGCTCCACAAGTGAAACATAAATATAACTGTCTTAAAGACTAAAATCAGCGGCCAAGGACCACCTTTCAGAGTTGTAAAAAACTCCTGTTATTCTTTCATACAACAATTAGCTTTGTTAATAATGCAACTCAGTAAGAGTTAGTTATAATGGTGTCTTAGATCTGTACAGTACTGAATGTTAACTTCAAGCTAACTGTAACTTTGTAGATTAAAAAGAGAAAAGGAACTCATAGGGGCAGGAAACCTTTTAAAAGCATTATTTTGTACTGTTGACTGCTTTCTTTTAGACAAGTTAATGTGAGCAGGGAAATAAGTGGTGGACATGGGTCCTGAGTGCAACTCTAGATGCTGATTTCTAAACAAGAAGCTAGCATTAACCACAACAAAACCACAAAATAGCTCCTCCATGATGATGTTGAAACATTCATAGCTATGTATTATTTCTGTCATCATTGTTGGAGGTTGGCGATGTCTGTCCTGTATCAATTTTCAGCAAGTAAAAATCTCCATCTAGTCGCCAGGCACGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCTGAGGTGGGTGGATCACCTGAGGTCAGGAGCTCGAGACCAGCCTGGCCAACATGGTGAAACCCTGTTGCTACTAAAAATACAAAATGAGCCGGGCGTGGTGGCGGGCGCCTGTAATCCCAGCTACTCGGGAGACTGAGGCAGGAGAATCATTGAACCCAGGAGGCAGAGGATGCAGTGAGCCAAGATTGCGCCATTGCACTCCAGCCTGGGCAACCAGAGTGAAACTTTGTCTCAAAAAAAAAAAAAAAAATCTCCATCTATTGGGAACCACTACACTGTGCTAAAAAGGCACTGTTCCACGTAGTGGAAATGTAACAGTAAGTAAAACATAAATTATGTTAAGTTACATATCCTTACATCTATTCCAAATAATTCACAGTTGATTAAATAGCATTTTAATTTGTACTGCATATTTAATTTATTGTTTGAACAATCATCTAATAGCTTTATTGGGCAACTAGCAGCTTTAAATTATTTTTCCTTTAACATTAGTAGTAACATTAGATTCTACATGCTATATACTAAATTAAAAAAATTAAAATTAGGAGTAGCAAACATCCTCTAAAACAGCATTTAAATTAGATATTAACAGACCTTTAGGAACTAAAATAACTGTCTTCCTCCACCTCTAAGGCTTCATATACAGAAAGAAATGAAGTTGAAACCCGAGTCCTTGAAAATTGATGTTATCGATATTTGACTTACATAGAAAAGTAAGTTATTTAAGTAGTTTTTAGGTTAAGAATACTTGTACTAAAGCATTAAAAAAGAAAATAAAACTATATCCTACCGATTTCTGATTCAATTCATCACTAAGCAATTCATATTCCTTAGTTTTGTCTTCAACTTCCTGAGACTTCTGATCATAATTGACAGCAAGTTCTTCTAGGGCCTGTAAAACTTCTTTCACTTCTTCTTTAGAGGCATCATTTTCTGCTTGAAGGCGATTCAGCTCAGCTTGCATATTGTCTTGATCCCTTCTGGTAGATGCCAAAAGCTATAGGACAGAAAATAATTTATTTTCCCCAAAAGTATACAGGTTTTAAAAAACACCCATGAAGCTTCACCATTTGTCAAGAACAAATGGAGTGAAATATGGATGGTATTCAGTGTGGCAACATTTATTCATTAAACAGATTTACTAAATGTCAACTATGTGCAGGCACTGTGCTGGATGCTGCAAGGCAGAAAGAAAATCAAAGACTGTGTTTAAGGAACACAGTAGAAGAGAAGATAGGCACATGAATAAGTGCAGTACAAGATAGAAGGTCAGAACCATAAGAGAGGGACAGGACAGATAAAGTGCTTAGTAATACAGGAAAGAGTATTCATTCATGGAGAAGTTGGCTAGGAGAGATCGACTGCAGTCACATGCAAATTAATGTAATAAAGGAAAATGGCATTCTACAAGAGTTGCTTAAAAATTTAGATTTGGGCCAGGCGGGGTGGCTCACGCCTGTAATCCCAGCATTTTGGGAGGCCGAGGCGGGCGGATCACAAGGTCAGGAGTTTGAGACCAGCCTGACCAACATGGTGAAATCCCGTCTCTACTAAAAATACCAAAAAATTAGCCAGGCGTGGTGGCGGGCGCCTGTAATCCCAGCTACTCGGGAGGCTGAGGCAGAAGAGTCGCTTGAACCTGGGAGGTGGAGGTTGCAGTGAGCCAAGATCACGCCGCTGCACTCCAGCCTGGGGAACAAGAGCAAGACTTCGCCTCAAAAACAAAAACAAAACCTGGTATCAGCACATAAAATCTGAACTGCAGGGATGCCAAGAGACTAGTTAGGAGAAAACCACAATCATCCACATTAGTGGCTCTCCTGTAGGGATATCCGGAAATCTGTGGGAGTGTTAATAATAGGGTAGAATGCTAATGGCATTTAGGAGTAGGGACCAGGAATGTTTAATGTCCTATAATACAAAGGACAGAATAACATAAATTATCCAATGCAAAATATCAATAGTGCCCCTTTGAGGAATAATGCTATAGTTGAAATATGAAATGCTATAGTTGAAAGATGATCTGACCAGGATTAAGTTCACTGATGGAGAGTATCTCTTTCTTACCGAAGCAGTCTTTGTCTTCACCCTGCCCACCACCCCCACAAAAAAATTTAAAGGACTGCTTTTCAATTATCCCCCTGCTCTGCTGGGTGAGAAGATAAAATGAGGATCCAAAGTAAGTGACAAGAAGAGAAATGTCAAGAACCAGGGTGAAAAAAAAGATGGCGGAAATGAACAACAGATTGTATCTGGGTAGATACGATGAATAAGTAAAAATTCACTTTATCCATGTGACATTCTTATTCCCACAAAGACAGTCATACCCAAAATTATACAACTATTAAAGACAAAGTCAATGGGATTCAGAAAACAAAACTATAAAGCTTTTCTGGAAGCAATGTAAAAGGTATTCAACTCACCTCCTCCTGATCCAACATTTGCGTCTTCAGTTTCTCTACCAGTTGACTTTGCTGGTTAATTTCTTCATCCTAGAATTGTGAAGTATCCGGTTAACCAGTAGCTAACAACCTGGTTCTAGTTGTTTCCCAATACAGGTTATAAGATTACTACTCCCCAGAAATATTTCAAAACCATTTCTCTAAATTCAACATTGCTTATTTTAATCTCTTTTAAGAAAATGGCAAAACAAAAGGAATTTCTTTCAATTATCAATACTTATAATGGTCATGTACTTCGAACCTGCCATCTCTGCTTAAAATATATTAAAAATATCAACTTAAGAAAATATTTTCTTCTAATCTCTTTACTACTCTTGTTCTTGCCTTCCATTCTATTACGTTCTTAGTTTGCTATTATTCATACTATTGACATTACTTCTATATGCAAAGCAGGAAGATATTATTTCCACTCTATTGTGTTTCCCTTAATCTCTCACATCATCTTTTATTGGAGTCTTCAGAGC
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AAATCATAGCTGGCTTAACAGCTACAAAATCACCAAATTTTGAAAAGTCCAACCCAGTTTGGTGCCCACTTTAAAATAACTCATATGGCAGAACAGATACAAGGTGAGCATCCCCACTCCGAAGTGCTCGAAAATCTGGGACTTTTTGAGTGCTTGCATGATGCTCAAAGAAAATGCTCACTGAAGCATTTTGGACTTGCCAATTAGAAATGCTCAACTGGTAAGTATAATGCAAACATTCCAAAATCTGAAACGCTTGGGGCTTCTGTATTTGTAATGCCTGTACTATACTGTATTTGTAATGCCATTTATTGACTTTTCATCAGTATCTTTTAGTAAAGATGCCATCATTCCAACTGCTTATTTCTTATGGTAGTTCGTCATTTCCTTAAGTTTCTGAGTATCAGTAGAGTATGTATCCACCCAGGTTAATCTACAATATGATACCAATTATCTTCAAGTCTCATAATATAGCATGCTTCTACCATAATTGTTTAAATTACCAGACACTCTCTAACTGAACAGCAACACTGTCTAAGCATATAAACAGATGCTAAACACTAGGGATTTCTAACTCCTATTATCAATGTAATGCTGATAGATTTCAGCTCCACAAGTGAAACATAAATATAACTGTCTTAAAGACTAAAATCAGCGGCCAAGGACCACCTTTCAGAGTTGTAAAAAACTCCTGTTATTCTTTCATACAACAATTAGCTTTGTTAATAATGCAACTCAGTAAGAGTTAGTTATAATGGTGTCTTAGATCTGTACAGTACTGAATGTTAACTTCAAGCTAACTGTAACTTTGTAGATTAAAAAGAGAAAAGGAACTCATAGGGGCAGGAAACCTTTTAAAAGCATTATTTTGTACTGTTGACTGCTTTCTTTTAGACAAGTTAATGTGAGCAGGGAAATAAGTGGTGGACATGGGTCCTGAGTGCAACTCTAGATGCTGATTTCTAAACAAGAAGCTAGCATTAACCACAACAAAACCACAAAATAGCTCCTCCATGATGATGTTGAAACATTCATAGCTATGTATTATTTCTGTCATCATTGTTGGAGGTTGGCGATGTCTGTCCTGTATCAATTTTCAGCAAGTAAAAATCTCCATCTAGTCGCCAGGCACGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCTGAGGTGGGTGGATCACCTGAGGTCAGGAGCTCGAGACCAGCCTGGCCAACATGGTGAAACCCTGTTGCTACTAAAAATACAAAATGAGCCGGGCGTGGTGGCGGGCGCCTGTAATCCCAGCTACTCGGGAGACTGAGGCAGGAGAATCATTGAACCCAGGAGGCAGAGGATGCAGTGAGCCAAGATTGCGCCATTGCACTCCAGCCTGGGCAACCAGAGTGAAACTTTGTCTCAAAAAAAAAAAAAAAAATCTCCATCTATTGGGAACCACTACACTGTGCTAAAAAGGCACTGTTCCACGTAGTGGAAATGTAACAGTAAGTAAAACATAAATTATGTTAAGTTACATATCCTTACATCTATTCCAAATAATTCACAGTTGATTAAATAGCATTTTAATTTGTACTGCATATTTAATTTATTGTTTGAACAATCATCTAATAGCTTTATTGGGCAACTAGCAGCTTTAAATTATTTTTCCTTTAACATTAGTAGTAACATTAGATTCTACATGCTATATACTAAATTAAAAAAATTAAAATTAGGAGTAGCAAACATCCTCTAAAACAGCATTTAAATTAGATATTAACAGACCTTTAGGAACTAAAATAACTGTCTTCCTCCACCTCTAAGGCTTCATATACAGAAAGAAATGAAGTTGAAACCCGAGTCCTTGAAAATTGATGTTATCGATATTTGACTTACATAGAAAAGTAAGTTATTTAAGTAGTTTTTAGGTTAAGAATACTTGTACTAAAGCATTAAAAAAGAAAATAAAACTATATCCTACCGATTTCTGATTCAATTCATCACTAAGCAATTCATATTCCTTAGTTTTGTCTTCAACTTCCTGAGACTTCTGATCATAATTGACAGCAGGTTCTTCTAGGGCCTGTAAAACTTCTTTCACTTCTTCTTTAGAGGCATCATTTTCTGCTTGAAGGCGATTCAGCTCAGCTTGCATATTGTCTTGATCCCTTCTGGTAGATGCCAAAAGCTATAGGACAGAAAATAATTTATTTTCCCCAAAAGTATACAGGTTTTAAAAAACACCCATGAAGCTTCACCATTTGTCAAGAACAAATGGAGTGAAATATGGATGGTATTCAGTGTGGCAACATTTATTCATTAAACAGATTTACTAAATGTCAACTATGTGCAGGCACTGTGCTGGATGCTGCAAGGCAGAAAGAAAATCAAAGACTGTGTTTAAGGAACACAGTAGAAGAGAAGATAGGCACATGAATAAGTGCAGTACAAGATAGAAGGTCAGAACCATAAGAGAGGGACAGGACAGATAAAGTGCTTAGTAATACAGGAAAGAGTATTCATTCATGGAGAAGTTGGCTAGGAGAGATCGACTGCAGTCACATGCAAATTAATGTAATAAAGGAAAATGGCATTCTACAAGAGTTGCTTAAAAATTTAGATTTGGGCCAGGCGGGGTGGCTCACGCCTGTAATCCCAGCATTTTGGGAGGCCGAGGCGGGCGGATCACAAGGTCAGGAGTTTGAGACCAGCCTGACCAACATGGTGAAATCCCGTCTCTACTAAAAATACCAAAAAATTAGCCAGGCGTGGTGGCGGGCGCCTGTAATCCCAGCTACTCGGGAGGCTGAGGCAGAAGAGTCGCTTGAACCTGGGAGGTGGAGGTTGCAGTGAGCCAAGATCACGCCGCTGCACTCCAGCCTGGGGAACAAGAGCAAGACTTCGCCTCAAAAACAAAAACAAAACCTGGTATCAGCACATAAAATCTGAACTGCAGGGATGCCAAGAGACTAGTTAGGAGAAAACCACAATCATCCACATTAGTGGCTCTCCTGTAGGGATATCCGGAAATCTGTGGGAGTGTTAATAATAGGGTAGAATGCTAATGGCATTTAGGAGTAGGGACCAGGAATGTTTAATGTCCTATAATACAAAGGACAGAATAACATAAATTATCCAATGCAAAATATCAATAGTGCCCCTTTGAGGAATAATGCTATAGTTGAAATATGAAATGCTATAGTTGAAAGATGATCTGACCAGGATTAAGTTCACTGATGGAGAGTATCTCTTTCTTACCGAAGCAGTCTTTGTCTTCACCCTGCCCACCACCCCCACAAAAAAATTTAAAGGACTGCTTTTCAATTATCCCCCTGCTCTGCTGGGTGAGAAGATAAAATGAGGATCCAAAGTAAGTGACAAGAAGAGAAATGTCAAGAACCAGGGTGAAAAAAAAGATGGCGGAAATGAACAACAGATTGTATCTGGGTAGATACGATGAATAAGTAAAAATTCACTTTATCCATGTGACATTCTTATTCCCACAAAGACAGTCATACCCAAAATTATACAACTATTAAAGACAAAGTCAATGGGATTCAGAAAACAAAACTATAAAGCTTTTCTGGAAGCAATGTAAAAGGTATTCAACTCACCTCCTCCTGATCCAACATTTGCGTCTTCAGTTTCTCTACCAGTTGACTTTGCTGGTTAATTTCTTCATCCTAGAATTGTGAAGTATCCGGTTAACCAGTAGCTAACAACCTGGTTCTAGTTGTTTCCCAATACAGGTTATAAGATTACTACTCCCCAGAAATATTTCAAAACCATTTCTCTAAATTCAACATTGCTTATTTTAATCTCTTTTAAGAAAATGGCAAAACAAAAGGAATTTCTTTCAATTATCAATACTTATAATGGTCATGTACTTCGAACCTGCCATCTCTGCTTAAAATATATTAAAAATATCAACTTAAGAAAATATTTTCTTCTAATCTCTTTACTACTCTTGTTCTTGCCTTCCATTCTATTACGTTCTTAGTTTGCTATTATTCATACTATTGACATTACTTCTATATGCAAAGCAGGAAGATATTATTTCCACTCTATTGTGTTTCCCTTAATCTCTCACATCATCTTTTATTGGAGTCTTCAGAGC
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Task1_train_13699
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Gene KIF5B (kinesin family member 5B), found on Chromosome 10, is impacted by this variant. What is the biological outcome — benign or pathogenic?
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Pathogenic; Feeding difficulties
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AAATCATAGCTGGCTTAACAGCTACAAAATCACCAAATTTTGAAAAGTCCAACCCAGTTTGGTGCCCACTTTAAAATAACTCATATGGCAGAACAGATACAAGGTGAGCATCCCCACTCCGAAGTGCTCGAAAATCTGGGACTTTTTGAGTGCTTGCATGATGCTCAAAGAAAATGCTCACTGAAGCATTTTGGACTTGCCAATTAGAAATGCTCAACTGGTAAGTATAATGCAAACATTCCAAAATCTGAAACGCTTGGGGCTTCTGTATTTGTAATGCCTGTACTATACTGTATTTGTAATGCCATTTATTGACTTTTCATCAGTATCTTTTAGTAAAGATGCCATCATTCCAACTGCTTATTTCTTATGGTAGTTCGTCATTTCCTTAAGTTTCTGAGTATCAGTAGAGTATGTATCCACCCAGGTTAATCTACAATATGATACCAATTATCTTCAAGTCTCATAATATAGCATGCTTCTACCATAATTGTTTAAATTACCAGACACTCTCTAACTGAACAGCAACACTGTCTAAGCATATAAACAGATGCTAAACACTAGGGATTTCTAACTCCTATTATCAATGTAATGCTGATAGATTTCAGCTCCACAAGTGAAACATAAATATAACTGTCTTAAAGACTAAAATCAGCGGCCAAGGACCACCTTTCAGAGTTGTAAAAAACTCCTGTTATTCTTTCATACAACAATTAGCTTTGTTAATAATGCAACTCAGTAAGAGTTAGTTATAATGGTGTCTTAGATCTGTACAGTACTGAATGTTAACTTCAAGCTAACTGTAACTTTGTAGATTAAAAAGAGAAAAGGAACTCATAGGGGCAGGAAACCTTTTAAAAGCATTATTTTGTACTGTTGACTGCTTTCTTTTAGACAAGTTAATGTGAGCAGGGAAATAAGTGGTGGACATGGGTCCTGAGTGCAACTCTAGATGCTGATTTCTAAACAAGAAGCTAGCATTAACCACAACAAAACCACAAAATAGCTCCTCCATGATGATGTTGAAACATTCATAGCTATGTATTATTTCTGTCATCATTGTTGGAGGTTGGCGATGTCTGTCCTGTATCAATTTTCAGCAAGTAAAAATCTCCATCTAGTCGCCAGGCACGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCTGAGGTGGGTGGATCACCTGAGGTCAGGAGCTCGAGACCAGCCTGGCCAACATGGTGAAACCCTGTTGCTACTAAAAATACAAAATGAGCCGGGCGTGGTGGCGGGCGCCTGTAATCCCAGCTACTCGGGAGACTGAGGCAGGAGAATCATTGAACCCAGGAGGCAGAGGATGCAGTGAGCCAAGATTGCGCCATTGCACTCCAGCCTGGGCAACCAGAGTGAAACTTTGTCTCAAAAAAAAAAAAAAAAATCTCCATCTATTGGGAACCACTACACTGTGCTAAAAAGGCACTGTTCCACGTAGTGGAAATGTAACAGTAAGTAAAACATAAATTATGTTAAGTTACATATCCTTACATCTATTCCAAATAATTCACAGTTGATTAAATAGCATTTTAATTTGTACTGCATATTTAATTTATTGTTTGAACAATCATCTAATAGCTTTATTGGGCAACTAGCAGCTTTAAATTATTTTTCCTTTAACATTAGTAGTAACATTAGATTCTACATGCTATATACTAAATTAAAAAAATTAAAATTAGGAGTAGCAAACATCCTCTAAAACAGCATTTAAATTAGATATTAACAGACCTTTAGGAACTAAAATAACTGTCTTCCTCCACCTCTAAGGCTTCATATACAGAAAGAAATGAAGTTGAAACCCGAGTCCTTGAAAATTGATGTTATCGATATTTGACTTACATAGAAAAGTAAGTTATTTAAGTAGTTTTTAGGTTAAGAATACTTGTACTAAAGCATTAAAAAAGAAAATAAAACTATATCCTACCGATTTCTGATTCAATTCATCACTAAGCAATTCATATTCCTTAGTTTTGTCTTCAACTTCCTGAGACTTCTGATCATAATTGACAGCAAGTTCTTCTAGGGCCTGTAAAACTTCTTTCACTTCTTCTTTAGAGGCATCATTTTCTGCTTGAAGGCGATTCAGCTCAGCTTGCATATTGTCTTGATCCCTTCTGGTAGATGCCAAAAGCTATAGGACAGAAAATAATTTATTTTCCCCAAAAGTATACAGGTTTTAAAAAACACCCATGAAGCTTCACCATTTGTCAAGAACAAATGGAGTGAAATATGGATGGTATTCAGTGTGGCAACATTTATTCATTAAACAGATTTACTAAATGTCAACTATGTGCAGGCACTGTGCTGGATGCTGCAAGGCAGAAAGAAAATCAAAGACTGTGTTTAAGGAACACAGTAGAAGAGAAGATAGGCACATGAATAAGTGCAGTACAAGATAGAAGGTCAGAACCATAAGAGAGGGACAGGACAGATAAAGTGCTTAGTAATACAGGAAAGAGTATTCATTCATGGAGAAGTTGGCTAGGAGAGATCGACTGCAGTCACATGCAAATTAATGTAATAAAGGAAAATGGCATTCTACAAGAGTTGCTTAAAAATTTAGATTTGGGCCAGGCGGGGTGGCTCACGCCTGTAATCCCAGCATTTTGGGAGGCCGAGGCGGGCGGATCACAAGGTCAGGAGTTTGAGACCAGCCTGACCAACATGGTGAAATCCCGTCTCTACTAAAAATACCAAAAAATTAGCCAGGCGTGGTGGCGGGCGCCTGTAATCCCAGCTACTCGGGAGGCTGAGGCAGAAGAGTCGCTTGAACCTGGGAGGTGGAGGTTGCAGTGAGCCAAGATCACGCCGCTGCACTCCAGCCTGGGGAACAAGAGCAAGACTTCGCCTCAAAAACAAAAACAAAACCTGGTATCAGCACATAAAATCTGAACTGCAGGGATGCCAAGAGACTAGTTAGGAGAAAACCACAATCATCCACATTAGTGGCTCTCCTGTAGGGATATCCGGAAATCTGTGGGAGTGTTAATAATAGGGTAGAATGCTAATGGCATTTAGGAGTAGGGACCAGGAATGTTTAATGTCCTATAATACAAAGGACAGAATAACATAAATTATCCAATGCAAAATATCAATAGTGCCCCTTTGAGGAATAATGCTATAGTTGAAATATGAAATGCTATAGTTGAAAGATGATCTGACCAGGATTAAGTTCACTGATGGAGAGTATCTCTTTCTTACCGAAGCAGTCTTTGTCTTCACCCTGCCCACCACCCCCACAAAAAAATTTAAAGGACTGCTTTTCAATTATCCCCCTGCTCTGCTGGGTGAGAAGATAAAATGAGGATCCAAAGTAAGTGACAAGAAGAGAAATGTCAAGAACCAGGGTGAAAAAAAAGATGGCGGAAATGAACAACAGATTGTATCTGGGTAGATACGATGAATAAGTAAAAATTCACTTTATCCATGTGACATTCTTATTCCCACAAAGACAGTCATACCCAAAATTATACAACTATTAAAGACAAAGTCAATGGGATTCAGAAAACAAAACTATAAAGCTTTTCTGGAAGCAATGTAAAAGGTATTCAACTCACCTCCTCCTGATCCAACATTTGCGTCTTCAGTTTCTCTACCAGTTGACTTTGCTGGTTAATTTCTTCATCCTAGAATTGTGAAGTATCCGGTTAACCAGTAGCTAACAACCTGGTTCTAGTTGTTTCCCAATACAGGTTATAAGATTACTACTCCCCAGAAATATTTCAAAACCATTTCTCTAAATTCAACATTGCTTATTTTAATCTCTTTTAAGAAAATGGCAAAACAAAAGGAATTTCTTTCAATTATCAATACTTATAATGGTCATGTACTTCGAACCTGCCATCTCTGCTTAAAATATATTAAAAATATCAACTTAAGAAAATATTTTCTTCTAATCTCTTTACTACTCTTGTTCTTGCCTTCCATTCTATTACGTTCTTAGTTTGCTATTATTCATACTATTGACATTACTTCTATATGCAAAGCAGGAAGATATTATTTCCACTCTATTGTGTTTCCCTTAATCTCTCACATCATCTTTTATTGGAGTCTTCAGAGC
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AAATCATAGCTGGCTTAACAGCTACAAAATCACCAAATTTTGAAAAGTCCAACCCAGTTTGGTGCCCACTTTAAAATAACTCATATGGCAGAACAGATACAAGGTGAGCATCCCCACTCCGAAGTGCTCGAAAATCTGGGACTTTTTGAGTGCTTGCATGATGCTCAAAGAAAATGCTCACTGAAGCATTTTGGACTTGCCAATTAGAAATGCTCAACTGGTAAGTATAATGCAAACATTCCAAAATCTGAAACGCTTGGGGCTTCTGTATTTGTAATGCCTGTACTATACTGTATTTGTAATGCCATTTATTGACTTTTCATCAGTATCTTTTAGTAAAGATGCCATCATTCCAACTGCTTATTTCTTATGGTAGTTCGTCATTTCCTTAAGTTTCTGAGTATCAGTAGAGTATGTATCCACCCAGGTTAATCTACAATATGATACCAATTATCTTCAAGTCTCATAATATAGCATGCTTCTACCATAATTGTTTAAATTACCAGACACTCTCTAACTGAACAGCAACACTGTCTAAGCATATAAACAGATGCTAAACACTAGGGATTTCTAACTCCTATTATCAATGTAATGCTGATAGATTTCAGCTCCACAAGTGAAACATAAATATAACTGTCTTAAAGACTAAAATCAGCGGCCAAGGACCACCTTTCAGAGTTGTAAAAAACTCCTGTTATTCTTTCATACAACAATTAGCTTTGTTAATAATGCAACTCAGTAAGAGTTAGTTATAATGGTGTCTTAGATCTGTACAGTACTGAATGTTAACTTCAAGCTAACTGTAACTTTGTAGATTAAAAAGAGAAAAGGAACTCATAGGGGCAGGAAACCTTTTAAAAGCATTATTTTGTACTGTTGACTGCTTTCTTTTAGACAAGTTAATGTGAGCAGGGAAATAAGTGGTGGACATGGGTCCTGAGTGCAACTCTAGATGCTGATTTCTAAACAAGAAGCTAGCATTAACCACAACAAAACCACAAAATAGCTCCTCCATGATGATGTTGAAACATTCATAGCTATGTATTATTTCTGTCATCATTGTTGGAGGTTGGCGATGTCTGTCCTGTATCAATTTTCAGCAAGTAAAAATCTCCATCTAGTCGCCAGGCACGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCTGAGGTGGGTGGATCACCTGAGGTCAGGAGCTCGAGACCAGCCTGGCCAACATGGTGAAACCCTGTTGCTACTAAAAATACAAAATGAGCCGGGCGTGGTGGCGGGCGCCTGTAATCCCAGCTACTCGGGAGACTGAGGCAGGAGAATCATTGAACCCAGGAGGCAGAGGATGCAGTGAGCCAAGATTGCGCCATTGCACTCCAGCCTGGGCAACCAGAGTGAAACTTTGTCTCAAAAAAAAAAAAAAAAATCTCCATCTATTGGGAACCACTACACTGTGCTAAAAAGGCACTGTTCCACGTAGTGGAAATGTAACAGTAAGTAAAACATAAATTATGTTAAGTTACATATCCTTACATCTATTCCAAATAATTCACAGTTGATTAAATAGCATTTTAATTTGTACTGCATATTTAATTTATTGTTTGAACAATCATCTAATAGCTTTATTGGGCAACTAGCAGCTTTAAATTATTTTTCCTTTAACATTAGTAGTAACATTAGATTCTACATGCTATATACTAAATTAAAAAAATTAAAATTAGGAGTAGCAAACATCCTCTAAAACAGCATTTAAATTAGATATTAACAGACCTTTAGGAACTAAAATAACTGTCTTCCTCCACCTCTAAGGCTTCATATACAGAAAGAAATGAAGTTGAAACCCGAGTCCTTGAAAATTGATGTTATCGATATTTGACTTACATAGAAAAGTAAGTTATTTAAGTAGTTTTTAGGTTAAGAATACTTGTACTAAAGCATTAAAAAAGAAAATAAAACTATATCCTACCGATTTCTGATTCAATTCATCACTAAGCAATTCATATTCCTTAGTTTTGTCTTCAACTTCCTGAGACTTCTGATCATAATTGACAGCAGGTTCTTCTAGGGCCTGTAAAACTTCTTTCACTTCTTCTTTAGAGGCATCATTTTCTGCTTGAAGGCGATTCAGCTCAGCTTGCATATTGTCTTGATCCCTTCTGGTAGATGCCAAAAGCTATAGGACAGAAAATAATTTATTTTCCCCAAAAGTATACAGGTTTTAAAAAACACCCATGAAGCTTCACCATTTGTCAAGAACAAATGGAGTGAAATATGGATGGTATTCAGTGTGGCAACATTTATTCATTAAACAGATTTACTAAATGTCAACTATGTGCAGGCACTGTGCTGGATGCTGCAAGGCAGAAAGAAAATCAAAGACTGTGTTTAAGGAACACAGTAGAAGAGAAGATAGGCACATGAATAAGTGCAGTACAAGATAGAAGGTCAGAACCATAAGAGAGGGACAGGACAGATAAAGTGCTTAGTAATACAGGAAAGAGTATTCATTCATGGAGAAGTTGGCTAGGAGAGATCGACTGCAGTCACATGCAAATTAATGTAATAAAGGAAAATGGCATTCTACAAGAGTTGCTTAAAAATTTAGATTTGGGCCAGGCGGGGTGGCTCACGCCTGTAATCCCAGCATTTTGGGAGGCCGAGGCGGGCGGATCACAAGGTCAGGAGTTTGAGACCAGCCTGACCAACATGGTGAAATCCCGTCTCTACTAAAAATACCAAAAAATTAGCCAGGCGTGGTGGCGGGCGCCTGTAATCCCAGCTACTCGGGAGGCTGAGGCAGAAGAGTCGCTTGAACCTGGGAGGTGGAGGTTGCAGTGAGCCAAGATCACGCCGCTGCACTCCAGCCTGGGGAACAAGAGCAAGACTTCGCCTCAAAAACAAAAACAAAACCTGGTATCAGCACATAAAATCTGAACTGCAGGGATGCCAAGAGACTAGTTAGGAGAAAACCACAATCATCCACATTAGTGGCTCTCCTGTAGGGATATCCGGAAATCTGTGGGAGTGTTAATAATAGGGTAGAATGCTAATGGCATTTAGGAGTAGGGACCAGGAATGTTTAATGTCCTATAATACAAAGGACAGAATAACATAAATTATCCAATGCAAAATATCAATAGTGCCCCTTTGAGGAATAATGCTATAGTTGAAATATGAAATGCTATAGTTGAAAGATGATCTGACCAGGATTAAGTTCACTGATGGAGAGTATCTCTTTCTTACCGAAGCAGTCTTTGTCTTCACCCTGCCCACCACCCCCACAAAAAAATTTAAAGGACTGCTTTTCAATTATCCCCCTGCTCTGCTGGGTGAGAAGATAAAATGAGGATCCAAAGTAAGTGACAAGAAGAGAAATGTCAAGAACCAGGGTGAAAAAAAAGATGGCGGAAATGAACAACAGATTGTATCTGGGTAGATACGATGAATAAGTAAAAATTCACTTTATCCATGTGACATTCTTATTCCCACAAAGACAGTCATACCCAAAATTATACAACTATTAAAGACAAAGTCAATGGGATTCAGAAAACAAAACTATAAAGCTTTTCTGGAAGCAATGTAAAAGGTATTCAACTCACCTCCTCCTGATCCAACATTTGCGTCTTCAGTTTCTCTACCAGTTGACTTTGCTGGTTAATTTCTTCATCCTAGAATTGTGAAGTATCCGGTTAACCAGTAGCTAACAACCTGGTTCTAGTTGTTTCCCAATACAGGTTATAAGATTACTACTCCCCAGAAATATTTCAAAACCATTTCTCTAAATTCAACATTGCTTATTTTAATCTCTTTTAAGAAAATGGCAAAACAAAAGGAATTTCTTTCAATTATCAATACTTATAATGGTCATGTACTTCGAACCTGCCATCTCTGCTTAAAATATATTAAAAATATCAACTTAAGAAAATATTTTCTTCTAATCTCTTTACTACTCTTGTTCTTGCCTTCCATTCTATTACGTTCTTAGTTTGCTATTATTCATACTATTGACATTACTTCTATATGCAAAGCAGGAAGATATTATTTCCACTCTATTGTGTTTCCCTTAATCTCTCACATCATCTTTTATTGGAGTCTTCAGAGC
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Subsets and Splits
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