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_15900
|
This sequence variant lies in BEST1 (bestrophin 1) on Chromosome 11. Is it clinically significant, and what condition might it cause if any?
|
Pathogenic; not provided
|
GAGACTCCGTCTAAAAATAAAATAAAAATCAAAAAATGATCTGGGCATGGTGGCTTATGCCTGTAGTCCCACCCAGCTCCTCAGGAGGCTGAAGCGGGAGGATTGCTTGAGCCCAGGAGGTTGAGGCTGCAGTGAGTCATGACTGTGCCACTGCCCTTGAGCCTGGGTAACAGAGCAAGACCCTATCTCAAAACAAACAAACAAACAAACAAACAAACAAAAACCAATAAACCAAAAACATTTATCTAAACAATAAAATAAAGGACAGATATAATCACCGAATATATGATAGCATTTTAAATTGAAAAAGCACTAATGACTACAATGGATTATAAAACATCAAATACATAAAATTCTTAAGTTCCTCCTAATACCAAATACAAAGCACATTGGTCTTTGGTTTTTACTTGGGCACTAATGCATGCTGAAAAAGAGTCAGACTTCATTTTTTAGAGTAGTTTTAGGTTCACAGCAAAATTGAGCAGAAGGTAGAGTTCTCATGTGTCTCTTTGCTCCTCCCCCTGCCCCCAGCCTCCCCACTATCAACACCCCCACACTACAGTGGTAGATTTATTACAATCCCTGAACCCACAGTGACACATCACTATCACCCAAAGTTCATAGCGTACAGCAGGGTTCACTCTTGGGCTGTACATTCCATGGGTTTGGATAAATGTGTAATGATGTCTCCACCATCACAGCATCAGGCAGAGTAGTTTCACTGCTCTAACAAAATCCTCTGCCTATTCACCCCTCTCATTAAAGCCAAACACTCTGTTTCTTTTTTTCTTTTTAGAGACAGTGTCTCGCTCTGTCACCCAGGCTGAAGTGCAATGGCAATCACAGCCCATTGCAGCCTCCAACTCCTGGGCTGAAGTGATCCTCCTATCTCAGCCTCCAGTGGCTACGACTGCAGGCATACGGCAACGGCACCCAACTAATTTTTTGTAGAGATAGGGTCTTGCTATGTTGCCCAGGCTGGTCTTGAACTCTTGGTCCTGCCTTAGCCTCCCAGAGCTCTGGGATTACAGGCGTGAACCACCGTGCCCGTCCCAAACACTCTGTTTCGACCTGCTTTTAAACAACTGACCCTTGGCTGCATTCAAAGGATCAGGGTGTCTGAAACTGGCCTCTGCAGCAGGACCTTCCTTCCTACACATCTCCCAGTGGCCAGTGTGAGGATTCTCCCCACAAGAAACCACTGGAGGGGGCCTCCTCCTGTCCGGGTTTGGGGCTGTACAAGGAGCATCATGGACCTGGCTCAGGCCTCAGGAGGGGCCCTGGGCTGGGGAAAATGTGGGATAGCATCGAGGCAGTCCCACTCCTACCCAGGGCCGGGCTAGACCTGGGGACAGTCTCAGCCATCTCCTCGCTGCGTCCACACAATTCCACCCCCACCCCCACCCCCAGGCTGGCCCTCACGGAAGAACAACAGCTGATGTTTGAGAAACTGACTCTGTATTGCGACAGCTACATCCAGCTCATCCCCATTTCCTTCGTGCTGGGTGAGTTCCCCCTTCTGGCTGTTCCGGGTCCCTGTGGCCGCCCAGGCTCCAGACAGGCCAGGGGAGGATCACGAGGAGCTGCGGCAAGGGGCTGGGGAGGGGGCGGGGGAACGCCAGCGGCAGGTCGGCGCCTCTCTGTAGGGAAAGGTGCGGACTGCAGCCAGTGAAACTGAAGTTAGACGTTAGGTAAGACGTCCTGCCGTTAGCAATGAAAACCCCATTTTCTGAGGGAAGCGCTGACATCATGGTCCCTGGAGCCCCTGCGCGGGAGGGGAGGGGGTCTGGCGGATTTCTGGGACCAGCAGGGGGACCCCCGGGTGACAGAACCCTTGGGGCTCTCGCGCCTCCATGCGAGGCTCTGCCTGCCTCTCGCTCCCGAGCGCCTTCCAGGAGGGCTGGGGGCTAGGCCCGCTCGCAGCAGAAAGCTGGAGGAGCCGAGGCATCGCCGGGCGCTGGGCCCTGGGCTCTGGCCGCAGCCTGGCCCCTCGCCCCTCGCCCCCCGCCCCTCCTGCCCAGGCTTCTACGTGACGCTGGTCGTGACCCGCTGGTGGAACCAGTACGAGAACCTGCCGTGGCCCGACCGCCTCATGAGCCTGGTGTCGGGCTTCGTCGAAGGCAAGGACGAGCAAGGCCGGCTGCTGCGGCGCACGCTCATCCGCTACGCCAACCTGGGCAACGTGCTCATCCTGCGCAGCGTCAGCACCGCAGTCTACAAGCGCTTCCCCAGCGCCCAGCACCTGGTGCAAGCAGGTGGGCGGACCGGGAGCAACGGGGAGGCACCGGGCAGAGCCAGGGGCCGAGATGGGCGCGGCAGGAATGGAAGATGGGTGGAGCCAAAGTCCCCCGGACTCGGGGGATTGGGTGGAGCCAGGAGTGGGGTGTAGTCAAGATTTGGGGGTCCAATTGGGCGGGACAGAGTCGGGTGTCTGAAGGTGGGGCGAGGCCAGGAGCCCACCCTCCGAGAGTAGGAGTCTGAGGCAGGGCTAAGGACCCTTGAGGGATAATGGAAAGAAGGGTGACGGCTTGGGAACTGGTGAGGTACTAGGGTCTACTTCCCTCTGCCCTTGCCCCTCTTGATCTCCGGTTTCCACTCTGGAGGTATGGGACATTGGTCTCTGACACCCCCTCAGCCTGGCCTGACCTGGTCCTGGTTAATAAGACAGACCCAGGCTAGGCGTGGTGGCTGTCGCCTGTAATCCCAGTGCTTTAGGAGGCAAAGGTGGGAAGATCGCTTGAGCCCAGCTGTTTGAGACGCCCCTGAGCAACATAGCGAGACCCCCATCTCTACAAAAACATTAAAAATTAGCAGGGCATGGTGGCGTGTGCCTGCAGTCTGAGGCTGAGTATCGGGAGGCTGAGGCAGGAGGATCACTTGAGCCCAGCAGTTCCAGGCTGCAGTGCGCTAAGATCGCACCGCTGCACTCCAACCTCGGTGACAGAGCCAGACCCTTTCTCTGGAAATAAATAAATACCCTGCCCACATGCTCAGCCCAGAACAGCACCTAGTAGGTGCTCAGAAATTTTTTTGTTGTTGAAAGAAAGAGGATGGCAAAGGAGTGCTGAGGTTCCTATAGGTCAGCAGGTGCCGGCCATCCCTTCTGCAGGTTCTCCCACCCACCGCCTTCTTCACTCCACTCTGCAGGCTTTATGACTCCGGCAGAACACAAGCAGTTGGAGAAACTGAGCCTACCACACAACATGTTCTGGGTGCCCTGGGTGTGGTTTGCCAACCTGTCAATGAAGGCGTGGCTTGGAGGTCGAATCCGGGACCCTATCCTGCTCCAGAGCCTGCTGAACGTGAGCCCACTGTACAGACAGGGCTGCCGCAGAGTGGGAAGGGCTGTGGTCCACAGGAAACAAGGTTTCCTACAAAGAGAAGCCTTGGGCCCCTGAGGGTCTTCCGAGAGCCTGAGGTGGGGTTGCAGAATCTTTTCCAACAGCAATCCACAGCCCGAGGTGGTCCCTTCTCAGAGGCCCCTCCCTCTTCTCCAAGTCTGTGAGGTCCTGGTTCCCTTTTGATAGATGAGGAAGCTGAGACACAAAGAGGTTTAGTGAGCTTCCCATGGCCACACAGCCAGGAATGGACCATAGGTACCAGGCCCTGGTACCTGGAGAAGAGGTGGGGGCGAGCCCAGGGTGGGGGCAGGTGGTGTTCAGAACCCCATCCCCCTCTTCTGCCCCCCAGGAGATGAACACCTTGCGTACTCAGTGTGGACACCTGTATGCCTACGACTGGATTAGTATCCCACTGGTGTATACACAGGTGAGGACTAGGCTGGTGAGGCTGCCCTTTTGGGAAACTGAGGCTAGAAGGACCAAGGAAGCAGCTGGGGTGGGAAGGGCTCACCTAGAGGCTAAGTGGCTCCCCTGGGAGTTGGGTCCACACTTTGAAGTTGGGTCTGGACTTTGAAGTGCCAAGTTCTAAGAGTCCAGGCTCCTGCCTGGCCCAGTCCAGTAGAGGCAATGTGATTATCCCCATATTAAAGAGAGGTTGGCCGGGTGCAGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAAGCTGAGGCAGGTGGATCACCTGAGGTCAGGAGTTCGAGACCAGCCTGGCCAAC
|
GAGACTCCGTCTAAAAATAAAATAAAAATCAAAAAATGATCTGGGCATGGTGGCTTATGCCTGTAGTCCCACCCAGCTCCTCAGGAGGCTGAAGCGGGAGGATTGCTTGAGCCCAGGAGGTTGAGGCTGCAGTGAGTCATGACTGTGCCACTGCCCTTGAGCCTGGGTAACAGAGCAAGACCCTATCTCAAAACAAACAAACAAACAAACAAACAAACAAAAACCAATAAACCAAAAACATTTATCTAAACAATAAAATAAAGGACAGATATAATCACCGAATATATGATAGCATTTTAAATTGAAAAAGCACTAATGACTACAATGGATTATAAAACATCAAATACATAAAATTCTTAAGTTCCTCCTAATACCAAATACAAAGCACATTGGTCTTTGGTTTTTACTTGGGCACTAATGCATGCTGAAAAAGAGTCAGACTTCATTTTTTAGAGTAGTTTTAGGTTCACAGCAAAATTGAGCAGAAGGTAGAGTTCTCATGTGTCTCTTTGCTCCTCCCCCTGCCCCCAGCCTCCCCACTATCAACACCCCCACACTACAGTGGTAGATTTATTACAATCCCTGAACCCACAGTGACACATCACTATCACCCAAAGTTCATAGCGTACAGCAGGGTTCACTCTTGGGCTGTACATTCCATGGGTTTGGATAAATGTGTAATGATGTCTCCACCATCACAGCATCAGGCAGAGTAGTTTCACTGCTCTAACAAAATCCTCTGCCTATTCACCCCTCTCATTAAAGCCAAACACTCTGTTTCTTTTTTTCTTTTTAGAGACAGTGTCTCGCTCTGTCACCCAGGCTGAAGTGCAATGGCAATCACAGCCCATTGCAGCCTCCAACTCCTGGGCTGAAGTGATCCTCCTATCTCAGCCTCCAGTGGCTACGACTGCAGGCATACGGCAACGGCACCCAACTAATTTTTTGTAGAGATAGGGTCTTGCTATGTTGCCCAGGCTGGTCTTGAACTCTTGGTCCTGCCTTAGCCTCCCAGAGCTCTGGGATTACAGGCGTGAACCACCGTGCCCGTCCCAAACACTCTGTTTCGACCTGCTTTTAAACAACTGACCCTTGGCTGCATTCAAAGGATCAGGGTGTCTGAAACTGGCCTCTGCAGCAGGACCTTCCTTCCTACACATCTCCCAGTGGCCAGTGTGAGGATTCTCCCCACAAGAAACCACTGGAGGGGGCCTCCTCCTGTCCGGGTTTGGGGCTGTACAAGGAGCATCATGGACCTGGCTCAGGCCTCAGGAGGGGCCCTGGGCTGGGGAAAATGTGGGATAGCATCGAGGCAGTCCCACTCCTACCCAGGGCCGGGCTAGACCTGGGGACAGTCTCAGCCATCTCCTCGCTGCGTCCACACAATTCCACCCCCACCCCCACCCCCAGGCTGGCCCTCACGGAAGAACAACAGCTGATGTTTGAGAAACTGACTCTGTATTGCGACAGCTACATCCAGCTCATCCCCATTTCCTTCGTGCTGGGTGAGTTCCCCCTTCTGGCTGTTCCGGGTCCCTGTGGCCGCCCAGGCTCCAGACAGGCCAGGGGAGGATCACGAGGAGCTGCGGCAAGGGGCTGGGGAGGGGGCGGGGGAACGCCAGCGGCAGGTCGGCGCCTCTCTGTAGGGAAAGGTGCGGACTGCAGCCAGTGAAACTGAAGTTAGACGTTAGGTAAGACGTCCTGCCGTTAGCAATGAAAACCCCATTTTCTGAGGGAAGCGCTGACATCATGGTCCCTGGAGCCCCTGCGCGGGAGGGGAGGGGGTCTGGCGGATTTCTGGGACCAGCAGGGGGACCCCCGGGTGACAGAACCCTTGGGGCTCTCGCGCCTCCATGCGAGGCTCTGCCTGCCTCTCGCTCCCGAGCGCCTTCCAGGAGGGCTGGGGGCTAGGCCCGCTCGCAGCAGAAAGCTGGAGGAGCCGAGGCATCGCCGGGCGCTGGGCCCTGGGCTCTGGCCGCAGCCTGGCCCCTCGCCCCTCGCCCCCCGCCCCTCCTGCCCAGGCTTCTACGTGACGCTGGTCGTGACCCACTGGTGGAACCAGTACGAGAACCTGCCGTGGCCCGACCGCCTCATGAGCCTGGTGTCGGGCTTCGTCGAAGGCAAGGACGAGCAAGGCCGGCTGCTGCGGCGCACGCTCATCCGCTACGCCAACCTGGGCAACGTGCTCATCCTGCGCAGCGTCAGCACCGCAGTCTACAAGCGCTTCCCCAGCGCCCAGCACCTGGTGCAAGCAGGTGGGCGGACCGGGAGCAACGGGGAGGCACCGGGCAGAGCCAGGGGCCGAGATGGGCGCGGCAGGAATGGAAGATGGGTGGAGCCAAAGTCCCCCGGACTCGGGGGATTGGGTGGAGCCAGGAGTGGGGTGTAGTCAAGATTTGGGGGTCCAATTGGGCGGGACAGAGTCGGGTGTCTGAAGGTGGGGCGAGGCCAGGAGCCCACCCTCCGAGAGTAGGAGTCTGAGGCAGGGCTAAGGACCCTTGAGGGATAATGGAAAGAAGGGTGACGGCTTGGGAACTGGTGAGGTACTAGGGTCTACTTCCCTCTGCCCTTGCCCCTCTTGATCTCCGGTTTCCACTCTGGAGGTATGGGACATTGGTCTCTGACACCCCCTCAGCCTGGCCTGACCTGGTCCTGGTTAATAAGACAGACCCAGGCTAGGCGTGGTGGCTGTCGCCTGTAATCCCAGTGCTTTAGGAGGCAAAGGTGGGAAGATCGCTTGAGCCCAGCTGTTTGAGACGCCCCTGAGCAACATAGCGAGACCCCCATCTCTACAAAAACATTAAAAATTAGCAGGGCATGGTGGCGTGTGCCTGCAGTCTGAGGCTGAGTATCGGGAGGCTGAGGCAGGAGGATCACTTGAGCCCAGCAGTTCCAGGCTGCAGTGCGCTAAGATCGCACCGCTGCACTCCAACCTCGGTGACAGAGCCAGACCCTTTCTCTGGAAATAAATAAATACCCTGCCCACATGCTCAGCCCAGAACAGCACCTAGTAGGTGCTCAGAAATTTTTTTGTTGTTGAAAGAAAGAGGATGGCAAAGGAGTGCTGAGGTTCCTATAGGTCAGCAGGTGCCGGCCATCCCTTCTGCAGGTTCTCCCACCCACCGCCTTCTTCACTCCACTCTGCAGGCTTTATGACTCCGGCAGAACACAAGCAGTTGGAGAAACTGAGCCTACCACACAACATGTTCTGGGTGCCCTGGGTGTGGTTTGCCAACCTGTCAATGAAGGCGTGGCTTGGAGGTCGAATCCGGGACCCTATCCTGCTCCAGAGCCTGCTGAACGTGAGCCCACTGTACAGACAGGGCTGCCGCAGAGTGGGAAGGGCTGTGGTCCACAGGAAACAAGGTTTCCTACAAAGAGAAGCCTTGGGCCCCTGAGGGTCTTCCGAGAGCCTGAGGTGGGGTTGCAGAATCTTTTCCAACAGCAATCCACAGCCCGAGGTGGTCCCTTCTCAGAGGCCCCTCCCTCTTCTCCAAGTCTGTGAGGTCCTGGTTCCCTTTTGATAGATGAGGAAGCTGAGACACAAAGAGGTTTAGTGAGCTTCCCATGGCCACACAGCCAGGAATGGACCATAGGTACCAGGCCCTGGTACCTGGAGAAGAGGTGGGGGCGAGCCCAGGGTGGGGGCAGGTGGTGTTCAGAACCCCATCCCCCTCTTCTGCCCCCCAGGAGATGAACACCTTGCGTACTCAGTGTGGACACCTGTATGCCTACGACTGGATTAGTATCCCACTGGTGTATACACAGGTGAGGACTAGGCTGGTGAGGCTGCCCTTTTGGGAAACTGAGGCTAGAAGGACCAAGGAAGCAGCTGGGGTGGGAAGGGCTCACCTAGAGGCTAAGTGGCTCCCCTGGGAGTTGGGTCCACACTTTGAAGTTGGGTCTGGACTTTGAAGTGCCAAGTTCTAAGAGTCCAGGCTCCTGCCTGGCCCAGTCCAGTAGAGGCAATGTGATTATCCCCATATTAAAGAGAGGTTGGCCGGGTGCAGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAAGCTGAGGCAGGTGGATCACCTGAGGTCAGGAGTTCGAGACCAGCCTGGCCAAC
|
Task1_train_15901
|
Located on Chromosome 11, this mutation impacts BEST1 (bestrophin 1). What is its biological consequence — is it benign or pathogenic, and which disease is associated if any?
|
Pathogenic; Vitelliform macular dystrophy 2
|
CTCCGTCTAAAAATAAAATAAAAATCAAAAAATGATCTGGGCATGGTGGCTTATGCCTGTAGTCCCACCCAGCTCCTCAGGAGGCTGAAGCGGGAGGATTGCTTGAGCCCAGGAGGTTGAGGCTGCAGTGAGTCATGACTGTGCCACTGCCCTTGAGCCTGGGTAACAGAGCAAGACCCTATCTCAAAACAAACAAACAAACAAACAAACAAACAAAAACCAATAAACCAAAAACATTTATCTAAACAATAAAATAAAGGACAGATATAATCACCGAATATATGATAGCATTTTAAATTGAAAAAGCACTAATGACTACAATGGATTATAAAACATCAAATACATAAAATTCTTAAGTTCCTCCTAATACCAAATACAAAGCACATTGGTCTTTGGTTTTTACTTGGGCACTAATGCATGCTGAAAAAGAGTCAGACTTCATTTTTTAGAGTAGTTTTAGGTTCACAGCAAAATTGAGCAGAAGGTAGAGTTCTCATGTGTCTCTTTGCTCCTCCCCCTGCCCCCAGCCTCCCCACTATCAACACCCCCACACTACAGTGGTAGATTTATTACAATCCCTGAACCCACAGTGACACATCACTATCACCCAAAGTTCATAGCGTACAGCAGGGTTCACTCTTGGGCTGTACATTCCATGGGTTTGGATAAATGTGTAATGATGTCTCCACCATCACAGCATCAGGCAGAGTAGTTTCACTGCTCTAACAAAATCCTCTGCCTATTCACCCCTCTCATTAAAGCCAAACACTCTGTTTCTTTTTTTCTTTTTAGAGACAGTGTCTCGCTCTGTCACCCAGGCTGAAGTGCAATGGCAATCACAGCCCATTGCAGCCTCCAACTCCTGGGCTGAAGTGATCCTCCTATCTCAGCCTCCAGTGGCTACGACTGCAGGCATACGGCAACGGCACCCAACTAATTTTTTGTAGAGATAGGGTCTTGCTATGTTGCCCAGGCTGGTCTTGAACTCTTGGTCCTGCCTTAGCCTCCCAGAGCTCTGGGATTACAGGCGTGAACCACCGTGCCCGTCCCAAACACTCTGTTTCGACCTGCTTTTAAACAACTGACCCTTGGCTGCATTCAAAGGATCAGGGTGTCTGAAACTGGCCTCTGCAGCAGGACCTTCCTTCCTACACATCTCCCAGTGGCCAGTGTGAGGATTCTCCCCACAAGAAACCACTGGAGGGGGCCTCCTCCTGTCCGGGTTTGGGGCTGTACAAGGAGCATCATGGACCTGGCTCAGGCCTCAGGAGGGGCCCTGGGCTGGGGAAAATGTGGGATAGCATCGAGGCAGTCCCACTCCTACCCAGGGCCGGGCTAGACCTGGGGACAGTCTCAGCCATCTCCTCGCTGCGTCCACACAATTCCACCCCCACCCCCACCCCCAGGCTGGCCCTCACGGAAGAACAACAGCTGATGTTTGAGAAACTGACTCTGTATTGCGACAGCTACATCCAGCTCATCCCCATTTCCTTCGTGCTGGGTGAGTTCCCCCTTCTGGCTGTTCCGGGTCCCTGTGGCCGCCCAGGCTCCAGACAGGCCAGGGGAGGATCACGAGGAGCTGCGGCAAGGGGCTGGGGAGGGGGCGGGGGAACGCCAGCGGCAGGTCGGCGCCTCTCTGTAGGGAAAGGTGCGGACTGCAGCCAGTGAAACTGAAGTTAGACGTTAGGTAAGACGTCCTGCCGTTAGCAATGAAAACCCCATTTTCTGAGGGAAGCGCTGACATCATGGTCCCTGGAGCCCCTGCGCGGGAGGGGAGGGGGTCTGGCGGATTTCTGGGACCAGCAGGGGGACCCCCGGGTGACAGAACCCTTGGGGCTCTCGCGCCTCCATGCGAGGCTCTGCCTGCCTCTCGCTCCCGAGCGCCTTCCAGGAGGGCTGGGGGCTAGGCCCGCTCGCAGCAGAAAGCTGGAGGAGCCGAGGCATCGCCGGGCGCTGGGCCCTGGGCTCTGGCCGCAGCCTGGCCCCTCGCCCCTCGCCCCCCGCCCCTCCTGCCCAGGCTTCTACGTGACGCTGGTCGTGACCCGCTGGTGGAACCAGTACGAGAACCTGCCGTGGCCCGACCGCCTCATGAGCCTGGTGTCGGGCTTCGTCGAAGGCAAGGACGAGCAAGGCCGGCTGCTGCGGCGCACGCTCATCCGCTACGCCAACCTGGGCAACGTGCTCATCCTGCGCAGCGTCAGCACCGCAGTCTACAAGCGCTTCCCCAGCGCCCAGCACCTGGTGCAAGCAGGTGGGCGGACCGGGAGCAACGGGGAGGCACCGGGCAGAGCCAGGGGCCGAGATGGGCGCGGCAGGAATGGAAGATGGGTGGAGCCAAAGTCCCCCGGACTCGGGGGATTGGGTGGAGCCAGGAGTGGGGTGTAGTCAAGATTTGGGGGTCCAATTGGGCGGGACAGAGTCGGGTGTCTGAAGGTGGGGCGAGGCCAGGAGCCCACCCTCCGAGAGTAGGAGTCTGAGGCAGGGCTAAGGACCCTTGAGGGATAATGGAAAGAAGGGTGACGGCTTGGGAACTGGTGAGGTACTAGGGTCTACTTCCCTCTGCCCTTGCCCCTCTTGATCTCCGGTTTCCACTCTGGAGGTATGGGACATTGGTCTCTGACACCCCCTCAGCCTGGCCTGACCTGGTCCTGGTTAATAAGACAGACCCAGGCTAGGCGTGGTGGCTGTCGCCTGTAATCCCAGTGCTTTAGGAGGCAAAGGTGGGAAGATCGCTTGAGCCCAGCTGTTTGAGACGCCCCTGAGCAACATAGCGAGACCCCCATCTCTACAAAAACATTAAAAATTAGCAGGGCATGGTGGCGTGTGCCTGCAGTCTGAGGCTGAGTATCGGGAGGCTGAGGCAGGAGGATCACTTGAGCCCAGCAGTTCCAGGCTGCAGTGCGCTAAGATCGCACCGCTGCACTCCAACCTCGGTGACAGAGCCAGACCCTTTCTCTGGAAATAAATAAATACCCTGCCCACATGCTCAGCCCAGAACAGCACCTAGTAGGTGCTCAGAAATTTTTTTGTTGTTGAAAGAAAGAGGATGGCAAAGGAGTGCTGAGGTTCCTATAGGTCAGCAGGTGCCGGCCATCCCTTCTGCAGGTTCTCCCACCCACCGCCTTCTTCACTCCACTCTGCAGGCTTTATGACTCCGGCAGAACACAAGCAGTTGGAGAAACTGAGCCTACCACACAACATGTTCTGGGTGCCCTGGGTGTGGTTTGCCAACCTGTCAATGAAGGCGTGGCTTGGAGGTCGAATCCGGGACCCTATCCTGCTCCAGAGCCTGCTGAACGTGAGCCCACTGTACAGACAGGGCTGCCGCAGAGTGGGAAGGGCTGTGGTCCACAGGAAACAAGGTTTCCTACAAAGAGAAGCCTTGGGCCCCTGAGGGTCTTCCGAGAGCCTGAGGTGGGGTTGCAGAATCTTTTCCAACAGCAATCCACAGCCCGAGGTGGTCCCTTCTCAGAGGCCCCTCCCTCTTCTCCAAGTCTGTGAGGTCCTGGTTCCCTTTTGATAGATGAGGAAGCTGAGACACAAAGAGGTTTAGTGAGCTTCCCATGGCCACACAGCCAGGAATGGACCATAGGTACCAGGCCCTGGTACCTGGAGAAGAGGTGGGGGCGAGCCCAGGGTGGGGGCAGGTGGTGTTCAGAACCCCATCCCCCTCTTCTGCCCCCCAGGAGATGAACACCTTGCGTACTCAGTGTGGACACCTGTATGCCTACGACTGGATTAGTATCCCACTGGTGTATACACAGGTGAGGACTAGGCTGGTGAGGCTGCCCTTTTGGGAAACTGAGGCTAGAAGGACCAAGGAAGCAGCTGGGGTGGGAAGGGCTCACCTAGAGGCTAAGTGGCTCCCCTGGGAGTTGGGTCCACACTTTGAAGTTGGGTCTGGACTTTGAAGTGCCAAGTTCTAAGAGTCCAGGCTCCTGCCTGGCCCAGTCCAGTAGAGGCAATGTGATTATCCCCATATTAAAGAGAGGTTGGCCGGGTGCAGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAAGCTGAGGCAGGTGGATCACCTGAGGTCAGGAGTTCGAGACCAGCCTGGCCAACATGG
|
CTCCGTCTAAAAATAAAATAAAAATCAAAAAATGATCTGGGCATGGTGGCTTATGCCTGTAGTCCCACCCAGCTCCTCAGGAGGCTGAAGCGGGAGGATTGCTTGAGCCCAGGAGGTTGAGGCTGCAGTGAGTCATGACTGTGCCACTGCCCTTGAGCCTGGGTAACAGAGCAAGACCCTATCTCAAAACAAACAAACAAACAAACAAACAAACAAAAACCAATAAACCAAAAACATTTATCTAAACAATAAAATAAAGGACAGATATAATCACCGAATATATGATAGCATTTTAAATTGAAAAAGCACTAATGACTACAATGGATTATAAAACATCAAATACATAAAATTCTTAAGTTCCTCCTAATACCAAATACAAAGCACATTGGTCTTTGGTTTTTACTTGGGCACTAATGCATGCTGAAAAAGAGTCAGACTTCATTTTTTAGAGTAGTTTTAGGTTCACAGCAAAATTGAGCAGAAGGTAGAGTTCTCATGTGTCTCTTTGCTCCTCCCCCTGCCCCCAGCCTCCCCACTATCAACACCCCCACACTACAGTGGTAGATTTATTACAATCCCTGAACCCACAGTGACACATCACTATCACCCAAAGTTCATAGCGTACAGCAGGGTTCACTCTTGGGCTGTACATTCCATGGGTTTGGATAAATGTGTAATGATGTCTCCACCATCACAGCATCAGGCAGAGTAGTTTCACTGCTCTAACAAAATCCTCTGCCTATTCACCCCTCTCATTAAAGCCAAACACTCTGTTTCTTTTTTTCTTTTTAGAGACAGTGTCTCGCTCTGTCACCCAGGCTGAAGTGCAATGGCAATCACAGCCCATTGCAGCCTCCAACTCCTGGGCTGAAGTGATCCTCCTATCTCAGCCTCCAGTGGCTACGACTGCAGGCATACGGCAACGGCACCCAACTAATTTTTTGTAGAGATAGGGTCTTGCTATGTTGCCCAGGCTGGTCTTGAACTCTTGGTCCTGCCTTAGCCTCCCAGAGCTCTGGGATTACAGGCGTGAACCACCGTGCCCGTCCCAAACACTCTGTTTCGACCTGCTTTTAAACAACTGACCCTTGGCTGCATTCAAAGGATCAGGGTGTCTGAAACTGGCCTCTGCAGCAGGACCTTCCTTCCTACACATCTCCCAGTGGCCAGTGTGAGGATTCTCCCCACAAGAAACCACTGGAGGGGGCCTCCTCCTGTCCGGGTTTGGGGCTGTACAAGGAGCATCATGGACCTGGCTCAGGCCTCAGGAGGGGCCCTGGGCTGGGGAAAATGTGGGATAGCATCGAGGCAGTCCCACTCCTACCCAGGGCCGGGCTAGACCTGGGGACAGTCTCAGCCATCTCCTCGCTGCGTCCACACAATTCCACCCCCACCCCCACCCCCAGGCTGGCCCTCACGGAAGAACAACAGCTGATGTTTGAGAAACTGACTCTGTATTGCGACAGCTACATCCAGCTCATCCCCATTTCCTTCGTGCTGGGTGAGTTCCCCCTTCTGGCTGTTCCGGGTCCCTGTGGCCGCCCAGGCTCCAGACAGGCCAGGGGAGGATCACGAGGAGCTGCGGCAAGGGGCTGGGGAGGGGGCGGGGGAACGCCAGCGGCAGGTCGGCGCCTCTCTGTAGGGAAAGGTGCGGACTGCAGCCAGTGAAACTGAAGTTAGACGTTAGGTAAGACGTCCTGCCGTTAGCAATGAAAACCCCATTTTCTGAGGGAAGCGCTGACATCATGGTCCCTGGAGCCCCTGCGCGGGAGGGGAGGGGGTCTGGCGGATTTCTGGGACCAGCAGGGGGACCCCCGGGTGACAGAACCCTTGGGGCTCTCGCGCCTCCATGCGAGGCTCTGCCTGCCTCTCGCTCCCGAGCGCCTTCCAGGAGGGCTGGGGGCTAGGCCCGCTCGCAGCAGAAAGCTGGAGGAGCCGAGGCATCGCCGGGCGCTGGGCCCTGGGCTCTGGCCGCAGCCTGGCCCCTCGCCCCTCGCCCCCCGCCCCTCCTGCCCAGGCTTCTACGTGACGCTGGTCGTGACCCGCTGCTGGAACCAGTACGAGAACCTGCCGTGGCCCGACCGCCTCATGAGCCTGGTGTCGGGCTTCGTCGAAGGCAAGGACGAGCAAGGCCGGCTGCTGCGGCGCACGCTCATCCGCTACGCCAACCTGGGCAACGTGCTCATCCTGCGCAGCGTCAGCACCGCAGTCTACAAGCGCTTCCCCAGCGCCCAGCACCTGGTGCAAGCAGGTGGGCGGACCGGGAGCAACGGGGAGGCACCGGGCAGAGCCAGGGGCCGAGATGGGCGCGGCAGGAATGGAAGATGGGTGGAGCCAAAGTCCCCCGGACTCGGGGGATTGGGTGGAGCCAGGAGTGGGGTGTAGTCAAGATTTGGGGGTCCAATTGGGCGGGACAGAGTCGGGTGTCTGAAGGTGGGGCGAGGCCAGGAGCCCACCCTCCGAGAGTAGGAGTCTGAGGCAGGGCTAAGGACCCTTGAGGGATAATGGAAAGAAGGGTGACGGCTTGGGAACTGGTGAGGTACTAGGGTCTACTTCCCTCTGCCCTTGCCCCTCTTGATCTCCGGTTTCCACTCTGGAGGTATGGGACATTGGTCTCTGACACCCCCTCAGCCTGGCCTGACCTGGTCCTGGTTAATAAGACAGACCCAGGCTAGGCGTGGTGGCTGTCGCCTGTAATCCCAGTGCTTTAGGAGGCAAAGGTGGGAAGATCGCTTGAGCCCAGCTGTTTGAGACGCCCCTGAGCAACATAGCGAGACCCCCATCTCTACAAAAACATTAAAAATTAGCAGGGCATGGTGGCGTGTGCCTGCAGTCTGAGGCTGAGTATCGGGAGGCTGAGGCAGGAGGATCACTTGAGCCCAGCAGTTCCAGGCTGCAGTGCGCTAAGATCGCACCGCTGCACTCCAACCTCGGTGACAGAGCCAGACCCTTTCTCTGGAAATAAATAAATACCCTGCCCACATGCTCAGCCCAGAACAGCACCTAGTAGGTGCTCAGAAATTTTTTTGTTGTTGAAAGAAAGAGGATGGCAAAGGAGTGCTGAGGTTCCTATAGGTCAGCAGGTGCCGGCCATCCCTTCTGCAGGTTCTCCCACCCACCGCCTTCTTCACTCCACTCTGCAGGCTTTATGACTCCGGCAGAACACAAGCAGTTGGAGAAACTGAGCCTACCACACAACATGTTCTGGGTGCCCTGGGTGTGGTTTGCCAACCTGTCAATGAAGGCGTGGCTTGGAGGTCGAATCCGGGACCCTATCCTGCTCCAGAGCCTGCTGAACGTGAGCCCACTGTACAGACAGGGCTGCCGCAGAGTGGGAAGGGCTGTGGTCCACAGGAAACAAGGTTTCCTACAAAGAGAAGCCTTGGGCCCCTGAGGGTCTTCCGAGAGCCTGAGGTGGGGTTGCAGAATCTTTTCCAACAGCAATCCACAGCCCGAGGTGGTCCCTTCTCAGAGGCCCCTCCCTCTTCTCCAAGTCTGTGAGGTCCTGGTTCCCTTTTGATAGATGAGGAAGCTGAGACACAAAGAGGTTTAGTGAGCTTCCCATGGCCACACAGCCAGGAATGGACCATAGGTACCAGGCCCTGGTACCTGGAGAAGAGGTGGGGGCGAGCCCAGGGTGGGGGCAGGTGGTGTTCAGAACCCCATCCCCCTCTTCTGCCCCCCAGGAGATGAACACCTTGCGTACTCAGTGTGGACACCTGTATGCCTACGACTGGATTAGTATCCCACTGGTGTATACACAGGTGAGGACTAGGCTGGTGAGGCTGCCCTTTTGGGAAACTGAGGCTAGAAGGACCAAGGAAGCAGCTGGGGTGGGAAGGGCTCACCTAGAGGCTAAGTGGCTCCCCTGGGAGTTGGGTCCACACTTTGAAGTTGGGTCTGGACTTTGAAGTGCCAAGTTCTAAGAGTCCAGGCTCCTGCCTGGCCCAGTCCAGTAGAGGCAATGTGATTATCCCCATATTAAAGAGAGGTTGGCCGGGTGCAGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAAGCTGAGGCAGGTGGATCACCTGAGGTCAGGAGTTCGAGACCAGCCTGGCCAACATGG
|
Task1_train_15902
|
A variant affecting Chromosome 11, within the gene BEST1 (bestrophin 1), has been observed. Determine if it's benign or associated with disease.
|
Pathogenic; not provided
|
CTCCGTCTAAAAATAAAATAAAAATCAAAAAATGATCTGGGCATGGTGGCTTATGCCTGTAGTCCCACCCAGCTCCTCAGGAGGCTGAAGCGGGAGGATTGCTTGAGCCCAGGAGGTTGAGGCTGCAGTGAGTCATGACTGTGCCACTGCCCTTGAGCCTGGGTAACAGAGCAAGACCCTATCTCAAAACAAACAAACAAACAAACAAACAAACAAAAACCAATAAACCAAAAACATTTATCTAAACAATAAAATAAAGGACAGATATAATCACCGAATATATGATAGCATTTTAAATTGAAAAAGCACTAATGACTACAATGGATTATAAAACATCAAATACATAAAATTCTTAAGTTCCTCCTAATACCAAATACAAAGCACATTGGTCTTTGGTTTTTACTTGGGCACTAATGCATGCTGAAAAAGAGTCAGACTTCATTTTTTAGAGTAGTTTTAGGTTCACAGCAAAATTGAGCAGAAGGTAGAGTTCTCATGTGTCTCTTTGCTCCTCCCCCTGCCCCCAGCCTCCCCACTATCAACACCCCCACACTACAGTGGTAGATTTATTACAATCCCTGAACCCACAGTGACACATCACTATCACCCAAAGTTCATAGCGTACAGCAGGGTTCACTCTTGGGCTGTACATTCCATGGGTTTGGATAAATGTGTAATGATGTCTCCACCATCACAGCATCAGGCAGAGTAGTTTCACTGCTCTAACAAAATCCTCTGCCTATTCACCCCTCTCATTAAAGCCAAACACTCTGTTTCTTTTTTTCTTTTTAGAGACAGTGTCTCGCTCTGTCACCCAGGCTGAAGTGCAATGGCAATCACAGCCCATTGCAGCCTCCAACTCCTGGGCTGAAGTGATCCTCCTATCTCAGCCTCCAGTGGCTACGACTGCAGGCATACGGCAACGGCACCCAACTAATTTTTTGTAGAGATAGGGTCTTGCTATGTTGCCCAGGCTGGTCTTGAACTCTTGGTCCTGCCTTAGCCTCCCAGAGCTCTGGGATTACAGGCGTGAACCACCGTGCCCGTCCCAAACACTCTGTTTCGACCTGCTTTTAAACAACTGACCCTTGGCTGCATTCAAAGGATCAGGGTGTCTGAAACTGGCCTCTGCAGCAGGACCTTCCTTCCTACACATCTCCCAGTGGCCAGTGTGAGGATTCTCCCCACAAGAAACCACTGGAGGGGGCCTCCTCCTGTCCGGGTTTGGGGCTGTACAAGGAGCATCATGGACCTGGCTCAGGCCTCAGGAGGGGCCCTGGGCTGGGGAAAATGTGGGATAGCATCGAGGCAGTCCCACTCCTACCCAGGGCCGGGCTAGACCTGGGGACAGTCTCAGCCATCTCCTCGCTGCGTCCACACAATTCCACCCCCACCCCCACCCCCAGGCTGGCCCTCACGGAAGAACAACAGCTGATGTTTGAGAAACTGACTCTGTATTGCGACAGCTACATCCAGCTCATCCCCATTTCCTTCGTGCTGGGTGAGTTCCCCCTTCTGGCTGTTCCGGGTCCCTGTGGCCGCCCAGGCTCCAGACAGGCCAGGGGAGGATCACGAGGAGCTGCGGCAAGGGGCTGGGGAGGGGGCGGGGGAACGCCAGCGGCAGGTCGGCGCCTCTCTGTAGGGAAAGGTGCGGACTGCAGCCAGTGAAACTGAAGTTAGACGTTAGGTAAGACGTCCTGCCGTTAGCAATGAAAACCCCATTTTCTGAGGGAAGCGCTGACATCATGGTCCCTGGAGCCCCTGCGCGGGAGGGGAGGGGGTCTGGCGGATTTCTGGGACCAGCAGGGGGACCCCCGGGTGACAGAACCCTTGGGGCTCTCGCGCCTCCATGCGAGGCTCTGCCTGCCTCTCGCTCCCGAGCGCCTTCCAGGAGGGCTGGGGGCTAGGCCCGCTCGCAGCAGAAAGCTGGAGGAGCCGAGGCATCGCCGGGCGCTGGGCCCTGGGCTCTGGCCGCAGCCTGGCCCCTCGCCCCTCGCCCCCCGCCCCTCCTGCCCAGGCTTCTACGTGACGCTGGTCGTGACCCGCTGGTGGAACCAGTACGAGAACCTGCCGTGGCCCGACCGCCTCATGAGCCTGGTGTCGGGCTTCGTCGAAGGCAAGGACGAGCAAGGCCGGCTGCTGCGGCGCACGCTCATCCGCTACGCCAACCTGGGCAACGTGCTCATCCTGCGCAGCGTCAGCACCGCAGTCTACAAGCGCTTCCCCAGCGCCCAGCACCTGGTGCAAGCAGGTGGGCGGACCGGGAGCAACGGGGAGGCACCGGGCAGAGCCAGGGGCCGAGATGGGCGCGGCAGGAATGGAAGATGGGTGGAGCCAAAGTCCCCCGGACTCGGGGGATTGGGTGGAGCCAGGAGTGGGGTGTAGTCAAGATTTGGGGGTCCAATTGGGCGGGACAGAGTCGGGTGTCTGAAGGTGGGGCGAGGCCAGGAGCCCACCCTCCGAGAGTAGGAGTCTGAGGCAGGGCTAAGGACCCTTGAGGGATAATGGAAAGAAGGGTGACGGCTTGGGAACTGGTGAGGTACTAGGGTCTACTTCCCTCTGCCCTTGCCCCTCTTGATCTCCGGTTTCCACTCTGGAGGTATGGGACATTGGTCTCTGACACCCCCTCAGCCTGGCCTGACCTGGTCCTGGTTAATAAGACAGACCCAGGCTAGGCGTGGTGGCTGTCGCCTGTAATCCCAGTGCTTTAGGAGGCAAAGGTGGGAAGATCGCTTGAGCCCAGCTGTTTGAGACGCCCCTGAGCAACATAGCGAGACCCCCATCTCTACAAAAACATTAAAAATTAGCAGGGCATGGTGGCGTGTGCCTGCAGTCTGAGGCTGAGTATCGGGAGGCTGAGGCAGGAGGATCACTTGAGCCCAGCAGTTCCAGGCTGCAGTGCGCTAAGATCGCACCGCTGCACTCCAACCTCGGTGACAGAGCCAGACCCTTTCTCTGGAAATAAATAAATACCCTGCCCACATGCTCAGCCCAGAACAGCACCTAGTAGGTGCTCAGAAATTTTTTTGTTGTTGAAAGAAAGAGGATGGCAAAGGAGTGCTGAGGTTCCTATAGGTCAGCAGGTGCCGGCCATCCCTTCTGCAGGTTCTCCCACCCACCGCCTTCTTCACTCCACTCTGCAGGCTTTATGACTCCGGCAGAACACAAGCAGTTGGAGAAACTGAGCCTACCACACAACATGTTCTGGGTGCCCTGGGTGTGGTTTGCCAACCTGTCAATGAAGGCGTGGCTTGGAGGTCGAATCCGGGACCCTATCCTGCTCCAGAGCCTGCTGAACGTGAGCCCACTGTACAGACAGGGCTGCCGCAGAGTGGGAAGGGCTGTGGTCCACAGGAAACAAGGTTTCCTACAAAGAGAAGCCTTGGGCCCCTGAGGGTCTTCCGAGAGCCTGAGGTGGGGTTGCAGAATCTTTTCCAACAGCAATCCACAGCCCGAGGTGGTCCCTTCTCAGAGGCCCCTCCCTCTTCTCCAAGTCTGTGAGGTCCTGGTTCCCTTTTGATAGATGAGGAAGCTGAGACACAAAGAGGTTTAGTGAGCTTCCCATGGCCACACAGCCAGGAATGGACCATAGGTACCAGGCCCTGGTACCTGGAGAAGAGGTGGGGGCGAGCCCAGGGTGGGGGCAGGTGGTGTTCAGAACCCCATCCCCCTCTTCTGCCCCCCAGGAGATGAACACCTTGCGTACTCAGTGTGGACACCTGTATGCCTACGACTGGATTAGTATCCCACTGGTGTATACACAGGTGAGGACTAGGCTGGTGAGGCTGCCCTTTTGGGAAACTGAGGCTAGAAGGACCAAGGAAGCAGCTGGGGTGGGAAGGGCTCACCTAGAGGCTAAGTGGCTCCCCTGGGAGTTGGGTCCACACTTTGAAGTTGGGTCTGGACTTTGAAGTGCCAAGTTCTAAGAGTCCAGGCTCCTGCCTGGCCCAGTCCAGTAGAGGCAATGTGATTATCCCCATATTAAAGAGAGGTTGGCCGGGTGCAGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAAGCTGAGGCAGGTGGATCACCTGAGGTCAGGAGTTCGAGACCAGCCTGGCCAACATGG
|
CTCCGTCTAAAAATAAAATAAAAATCAAAAAATGATCTGGGCATGGTGGCTTATGCCTGTAGTCCCACCCAGCTCCTCAGGAGGCTGAAGCGGGAGGATTGCTTGAGCCCAGGAGGTTGAGGCTGCAGTGAGTCATGACTGTGCCACTGCCCTTGAGCCTGGGTAACAGAGCAAGACCCTATCTCAAAACAAACAAACAAACAAACAAACAAACAAAAACCAATAAACCAAAAACATTTATCTAAACAATAAAATAAAGGACAGATATAATCACCGAATATATGATAGCATTTTAAATTGAAAAAGCACTAATGACTACAATGGATTATAAAACATCAAATACATAAAATTCTTAAGTTCCTCCTAATACCAAATACAAAGCACATTGGTCTTTGGTTTTTACTTGGGCACTAATGCATGCTGAAAAAGAGTCAGACTTCATTTTTTAGAGTAGTTTTAGGTTCACAGCAAAATTGAGCAGAAGGTAGAGTTCTCATGTGTCTCTTTGCTCCTCCCCCTGCCCCCAGCCTCCCCACTATCAACACCCCCACACTACAGTGGTAGATTTATTACAATCCCTGAACCCACAGTGACACATCACTATCACCCAAAGTTCATAGCGTACAGCAGGGTTCACTCTTGGGCTGTACATTCCATGGGTTTGGATAAATGTGTAATGATGTCTCCACCATCACAGCATCAGGCAGAGTAGTTTCACTGCTCTAACAAAATCCTCTGCCTATTCACCCCTCTCATTAAAGCCAAACACTCTGTTTCTTTTTTTCTTTTTAGAGACAGTGTCTCGCTCTGTCACCCAGGCTGAAGTGCAATGGCAATCACAGCCCATTGCAGCCTCCAACTCCTGGGCTGAAGTGATCCTCCTATCTCAGCCTCCAGTGGCTACGACTGCAGGCATACGGCAACGGCACCCAACTAATTTTTTGTAGAGATAGGGTCTTGCTATGTTGCCCAGGCTGGTCTTGAACTCTTGGTCCTGCCTTAGCCTCCCAGAGCTCTGGGATTACAGGCGTGAACCACCGTGCCCGTCCCAAACACTCTGTTTCGACCTGCTTTTAAACAACTGACCCTTGGCTGCATTCAAAGGATCAGGGTGTCTGAAACTGGCCTCTGCAGCAGGACCTTCCTTCCTACACATCTCCCAGTGGCCAGTGTGAGGATTCTCCCCACAAGAAACCACTGGAGGGGGCCTCCTCCTGTCCGGGTTTGGGGCTGTACAAGGAGCATCATGGACCTGGCTCAGGCCTCAGGAGGGGCCCTGGGCTGGGGAAAATGTGGGATAGCATCGAGGCAGTCCCACTCCTACCCAGGGCCGGGCTAGACCTGGGGACAGTCTCAGCCATCTCCTCGCTGCGTCCACACAATTCCACCCCCACCCCCACCCCCAGGCTGGCCCTCACGGAAGAACAACAGCTGATGTTTGAGAAACTGACTCTGTATTGCGACAGCTACATCCAGCTCATCCCCATTTCCTTCGTGCTGGGTGAGTTCCCCCTTCTGGCTGTTCCGGGTCCCTGTGGCCGCCCAGGCTCCAGACAGGCCAGGGGAGGATCACGAGGAGCTGCGGCAAGGGGCTGGGGAGGGGGCGGGGGAACGCCAGCGGCAGGTCGGCGCCTCTCTGTAGGGAAAGGTGCGGACTGCAGCCAGTGAAACTGAAGTTAGACGTTAGGTAAGACGTCCTGCCGTTAGCAATGAAAACCCCATTTTCTGAGGGAAGCGCTGACATCATGGTCCCTGGAGCCCCTGCGCGGGAGGGGAGGGGGTCTGGCGGATTTCTGGGACCAGCAGGGGGACCCCCGGGTGACAGAACCCTTGGGGCTCTCGCGCCTCCATGCGAGGCTCTGCCTGCCTCTCGCTCCCGAGCGCCTTCCAGGAGGGCTGGGGGCTAGGCCCGCTCGCAGCAGAAAGCTGGAGGAGCCGAGGCATCGCCGGGCGCTGGGCCCTGGGCTCTGGCCGCAGCCTGGCCCCTCGCCCCTCGCCCCCCGCCCCTCCTGCCCAGGCTTCTACGTGACGCTGGTCGTGACCCGCTGTTGGAACCAGTACGAGAACCTGCCGTGGCCCGACCGCCTCATGAGCCTGGTGTCGGGCTTCGTCGAAGGCAAGGACGAGCAAGGCCGGCTGCTGCGGCGCACGCTCATCCGCTACGCCAACCTGGGCAACGTGCTCATCCTGCGCAGCGTCAGCACCGCAGTCTACAAGCGCTTCCCCAGCGCCCAGCACCTGGTGCAAGCAGGTGGGCGGACCGGGAGCAACGGGGAGGCACCGGGCAGAGCCAGGGGCCGAGATGGGCGCGGCAGGAATGGAAGATGGGTGGAGCCAAAGTCCCCCGGACTCGGGGGATTGGGTGGAGCCAGGAGTGGGGTGTAGTCAAGATTTGGGGGTCCAATTGGGCGGGACAGAGTCGGGTGTCTGAAGGTGGGGCGAGGCCAGGAGCCCACCCTCCGAGAGTAGGAGTCTGAGGCAGGGCTAAGGACCCTTGAGGGATAATGGAAAGAAGGGTGACGGCTTGGGAACTGGTGAGGTACTAGGGTCTACTTCCCTCTGCCCTTGCCCCTCTTGATCTCCGGTTTCCACTCTGGAGGTATGGGACATTGGTCTCTGACACCCCCTCAGCCTGGCCTGACCTGGTCCTGGTTAATAAGACAGACCCAGGCTAGGCGTGGTGGCTGTCGCCTGTAATCCCAGTGCTTTAGGAGGCAAAGGTGGGAAGATCGCTTGAGCCCAGCTGTTTGAGACGCCCCTGAGCAACATAGCGAGACCCCCATCTCTACAAAAACATTAAAAATTAGCAGGGCATGGTGGCGTGTGCCTGCAGTCTGAGGCTGAGTATCGGGAGGCTGAGGCAGGAGGATCACTTGAGCCCAGCAGTTCCAGGCTGCAGTGCGCTAAGATCGCACCGCTGCACTCCAACCTCGGTGACAGAGCCAGACCCTTTCTCTGGAAATAAATAAATACCCTGCCCACATGCTCAGCCCAGAACAGCACCTAGTAGGTGCTCAGAAATTTTTTTGTTGTTGAAAGAAAGAGGATGGCAAAGGAGTGCTGAGGTTCCTATAGGTCAGCAGGTGCCGGCCATCCCTTCTGCAGGTTCTCCCACCCACCGCCTTCTTCACTCCACTCTGCAGGCTTTATGACTCCGGCAGAACACAAGCAGTTGGAGAAACTGAGCCTACCACACAACATGTTCTGGGTGCCCTGGGTGTGGTTTGCCAACCTGTCAATGAAGGCGTGGCTTGGAGGTCGAATCCGGGACCCTATCCTGCTCCAGAGCCTGCTGAACGTGAGCCCACTGTACAGACAGGGCTGCCGCAGAGTGGGAAGGGCTGTGGTCCACAGGAAACAAGGTTTCCTACAAAGAGAAGCCTTGGGCCCCTGAGGGTCTTCCGAGAGCCTGAGGTGGGGTTGCAGAATCTTTTCCAACAGCAATCCACAGCCCGAGGTGGTCCCTTCTCAGAGGCCCCTCCCTCTTCTCCAAGTCTGTGAGGTCCTGGTTCCCTTTTGATAGATGAGGAAGCTGAGACACAAAGAGGTTTAGTGAGCTTCCCATGGCCACACAGCCAGGAATGGACCATAGGTACCAGGCCCTGGTACCTGGAGAAGAGGTGGGGGCGAGCCCAGGGTGGGGGCAGGTGGTGTTCAGAACCCCATCCCCCTCTTCTGCCCCCCAGGAGATGAACACCTTGCGTACTCAGTGTGGACACCTGTATGCCTACGACTGGATTAGTATCCCACTGGTGTATACACAGGTGAGGACTAGGCTGGTGAGGCTGCCCTTTTGGGAAACTGAGGCTAGAAGGACCAAGGAAGCAGCTGGGGTGGGAAGGGCTCACCTAGAGGCTAAGTGGCTCCCCTGGGAGTTGGGTCCACACTTTGAAGTTGGGTCTGGACTTTGAAGTGCCAAGTTCTAAGAGTCCAGGCTCCTGCCTGGCCCAGTCCAGTAGAGGCAATGTGATTATCCCCATATTAAAGAGAGGTTGGCCGGGTGCAGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAAGCTGAGGCAGGTGGATCACCTGAGGTCAGGAGTTCGAGACCAGCCTGGCCAACATGG
|
Task1_train_15903
|
A genetic alteration is present in BEST1 (bestrophin 1) on Chromosome 11. Is this variant benign or disease-causing, and if the latter, which condition is involved?
|
Pathogenic; not provided
|
AAAATAAAATAAAAATCAAAAAATGATCTGGGCATGGTGGCTTATGCCTGTAGTCCCACCCAGCTCCTCAGGAGGCTGAAGCGGGAGGATTGCTTGAGCCCAGGAGGTTGAGGCTGCAGTGAGTCATGACTGTGCCACTGCCCTTGAGCCTGGGTAACAGAGCAAGACCCTATCTCAAAACAAACAAACAAACAAACAAACAAACAAAAACCAATAAACCAAAAACATTTATCTAAACAATAAAATAAAGGACAGATATAATCACCGAATATATGATAGCATTTTAAATTGAAAAAGCACTAATGACTACAATGGATTATAAAACATCAAATACATAAAATTCTTAAGTTCCTCCTAATACCAAATACAAAGCACATTGGTCTTTGGTTTTTACTTGGGCACTAATGCATGCTGAAAAAGAGTCAGACTTCATTTTTTAGAGTAGTTTTAGGTTCACAGCAAAATTGAGCAGAAGGTAGAGTTCTCATGTGTCTCTTTGCTCCTCCCCCTGCCCCCAGCCTCCCCACTATCAACACCCCCACACTACAGTGGTAGATTTATTACAATCCCTGAACCCACAGTGACACATCACTATCACCCAAAGTTCATAGCGTACAGCAGGGTTCACTCTTGGGCTGTACATTCCATGGGTTTGGATAAATGTGTAATGATGTCTCCACCATCACAGCATCAGGCAGAGTAGTTTCACTGCTCTAACAAAATCCTCTGCCTATTCACCCCTCTCATTAAAGCCAAACACTCTGTTTCTTTTTTTCTTTTTAGAGACAGTGTCTCGCTCTGTCACCCAGGCTGAAGTGCAATGGCAATCACAGCCCATTGCAGCCTCCAACTCCTGGGCTGAAGTGATCCTCCTATCTCAGCCTCCAGTGGCTACGACTGCAGGCATACGGCAACGGCACCCAACTAATTTTTTGTAGAGATAGGGTCTTGCTATGTTGCCCAGGCTGGTCTTGAACTCTTGGTCCTGCCTTAGCCTCCCAGAGCTCTGGGATTACAGGCGTGAACCACCGTGCCCGTCCCAAACACTCTGTTTCGACCTGCTTTTAAACAACTGACCCTTGGCTGCATTCAAAGGATCAGGGTGTCTGAAACTGGCCTCTGCAGCAGGACCTTCCTTCCTACACATCTCCCAGTGGCCAGTGTGAGGATTCTCCCCACAAGAAACCACTGGAGGGGGCCTCCTCCTGTCCGGGTTTGGGGCTGTACAAGGAGCATCATGGACCTGGCTCAGGCCTCAGGAGGGGCCCTGGGCTGGGGAAAATGTGGGATAGCATCGAGGCAGTCCCACTCCTACCCAGGGCCGGGCTAGACCTGGGGACAGTCTCAGCCATCTCCTCGCTGCGTCCACACAATTCCACCCCCACCCCCACCCCCAGGCTGGCCCTCACGGAAGAACAACAGCTGATGTTTGAGAAACTGACTCTGTATTGCGACAGCTACATCCAGCTCATCCCCATTTCCTTCGTGCTGGGTGAGTTCCCCCTTCTGGCTGTTCCGGGTCCCTGTGGCCGCCCAGGCTCCAGACAGGCCAGGGGAGGATCACGAGGAGCTGCGGCAAGGGGCTGGGGAGGGGGCGGGGGAACGCCAGCGGCAGGTCGGCGCCTCTCTGTAGGGAAAGGTGCGGACTGCAGCCAGTGAAACTGAAGTTAGACGTTAGGTAAGACGTCCTGCCGTTAGCAATGAAAACCCCATTTTCTGAGGGAAGCGCTGACATCATGGTCCCTGGAGCCCCTGCGCGGGAGGGGAGGGGGTCTGGCGGATTTCTGGGACCAGCAGGGGGACCCCCGGGTGACAGAACCCTTGGGGCTCTCGCGCCTCCATGCGAGGCTCTGCCTGCCTCTCGCTCCCGAGCGCCTTCCAGGAGGGCTGGGGGCTAGGCCCGCTCGCAGCAGAAAGCTGGAGGAGCCGAGGCATCGCCGGGCGCTGGGCCCTGGGCTCTGGCCGCAGCCTGGCCCCTCGCCCCTCGCCCCCCGCCCCTCCTGCCCAGGCTTCTACGTGACGCTGGTCGTGACCCGCTGGTGGAACCAGTACGAGAACCTGCCGTGGCCCGACCGCCTCATGAGCCTGGTGTCGGGCTTCGTCGAAGGCAAGGACGAGCAAGGCCGGCTGCTGCGGCGCACGCTCATCCGCTACGCCAACCTGGGCAACGTGCTCATCCTGCGCAGCGTCAGCACCGCAGTCTACAAGCGCTTCCCCAGCGCCCAGCACCTGGTGCAAGCAGGTGGGCGGACCGGGAGCAACGGGGAGGCACCGGGCAGAGCCAGGGGCCGAGATGGGCGCGGCAGGAATGGAAGATGGGTGGAGCCAAAGTCCCCCGGACTCGGGGGATTGGGTGGAGCCAGGAGTGGGGTGTAGTCAAGATTTGGGGGTCCAATTGGGCGGGACAGAGTCGGGTGTCTGAAGGTGGGGCGAGGCCAGGAGCCCACCCTCCGAGAGTAGGAGTCTGAGGCAGGGCTAAGGACCCTTGAGGGATAATGGAAAGAAGGGTGACGGCTTGGGAACTGGTGAGGTACTAGGGTCTACTTCCCTCTGCCCTTGCCCCTCTTGATCTCCGGTTTCCACTCTGGAGGTATGGGACATTGGTCTCTGACACCCCCTCAGCCTGGCCTGACCTGGTCCTGGTTAATAAGACAGACCCAGGCTAGGCGTGGTGGCTGTCGCCTGTAATCCCAGTGCTTTAGGAGGCAAAGGTGGGAAGATCGCTTGAGCCCAGCTGTTTGAGACGCCCCTGAGCAACATAGCGAGACCCCCATCTCTACAAAAACATTAAAAATTAGCAGGGCATGGTGGCGTGTGCCTGCAGTCTGAGGCTGAGTATCGGGAGGCTGAGGCAGGAGGATCACTTGAGCCCAGCAGTTCCAGGCTGCAGTGCGCTAAGATCGCACCGCTGCACTCCAACCTCGGTGACAGAGCCAGACCCTTTCTCTGGAAATAAATAAATACCCTGCCCACATGCTCAGCCCAGAACAGCACCTAGTAGGTGCTCAGAAATTTTTTTGTTGTTGAAAGAAAGAGGATGGCAAAGGAGTGCTGAGGTTCCTATAGGTCAGCAGGTGCCGGCCATCCCTTCTGCAGGTTCTCCCACCCACCGCCTTCTTCACTCCACTCTGCAGGCTTTATGACTCCGGCAGAACACAAGCAGTTGGAGAAACTGAGCCTACCACACAACATGTTCTGGGTGCCCTGGGTGTGGTTTGCCAACCTGTCAATGAAGGCGTGGCTTGGAGGTCGAATCCGGGACCCTATCCTGCTCCAGAGCCTGCTGAACGTGAGCCCACTGTACAGACAGGGCTGCCGCAGAGTGGGAAGGGCTGTGGTCCACAGGAAACAAGGTTTCCTACAAAGAGAAGCCTTGGGCCCCTGAGGGTCTTCCGAGAGCCTGAGGTGGGGTTGCAGAATCTTTTCCAACAGCAATCCACAGCCCGAGGTGGTCCCTTCTCAGAGGCCCCTCCCTCTTCTCCAAGTCTGTGAGGTCCTGGTTCCCTTTTGATAGATGAGGAAGCTGAGACACAAAGAGGTTTAGTGAGCTTCCCATGGCCACACAGCCAGGAATGGACCATAGGTACCAGGCCCTGGTACCTGGAGAAGAGGTGGGGGCGAGCCCAGGGTGGGGGCAGGTGGTGTTCAGAACCCCATCCCCCTCTTCTGCCCCCCAGGAGATGAACACCTTGCGTACTCAGTGTGGACACCTGTATGCCTACGACTGGATTAGTATCCCACTGGTGTATACACAGGTGAGGACTAGGCTGGTGAGGCTGCCCTTTTGGGAAACTGAGGCTAGAAGGACCAAGGAAGCAGCTGGGGTGGGAAGGGCTCACCTAGAGGCTAAGTGGCTCCCCTGGGAGTTGGGTCCACACTTTGAAGTTGGGTCTGGACTTTGAAGTGCCAAGTTCTAAGAGTCCAGGCTCCTGCCTGGCCCAGTCCAGTAGAGGCAATGTGATTATCCCCATATTAAAGAGAGGTTGGCCGGGTGCAGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAAGCTGAGGCAGGTGGATCACCTGAGGTCAGGAGTTCGAGACCAGCCTGGCCAACATGGTGAAACCCC
|
AAAATAAAATAAAAATCAAAAAATGATCTGGGCATGGTGGCTTATGCCTGTAGTCCCACCCAGCTCCTCAGGAGGCTGAAGCGGGAGGATTGCTTGAGCCCAGGAGGTTGAGGCTGCAGTGAGTCATGACTGTGCCACTGCCCTTGAGCCTGGGTAACAGAGCAAGACCCTATCTCAAAACAAACAAACAAACAAACAAACAAACAAAAACCAATAAACCAAAAACATTTATCTAAACAATAAAATAAAGGACAGATATAATCACCGAATATATGATAGCATTTTAAATTGAAAAAGCACTAATGACTACAATGGATTATAAAACATCAAATACATAAAATTCTTAAGTTCCTCCTAATACCAAATACAAAGCACATTGGTCTTTGGTTTTTACTTGGGCACTAATGCATGCTGAAAAAGAGTCAGACTTCATTTTTTAGAGTAGTTTTAGGTTCACAGCAAAATTGAGCAGAAGGTAGAGTTCTCATGTGTCTCTTTGCTCCTCCCCCTGCCCCCAGCCTCCCCACTATCAACACCCCCACACTACAGTGGTAGATTTATTACAATCCCTGAACCCACAGTGACACATCACTATCACCCAAAGTTCATAGCGTACAGCAGGGTTCACTCTTGGGCTGTACATTCCATGGGTTTGGATAAATGTGTAATGATGTCTCCACCATCACAGCATCAGGCAGAGTAGTTTCACTGCTCTAACAAAATCCTCTGCCTATTCACCCCTCTCATTAAAGCCAAACACTCTGTTTCTTTTTTTCTTTTTAGAGACAGTGTCTCGCTCTGTCACCCAGGCTGAAGTGCAATGGCAATCACAGCCCATTGCAGCCTCCAACTCCTGGGCTGAAGTGATCCTCCTATCTCAGCCTCCAGTGGCTACGACTGCAGGCATACGGCAACGGCACCCAACTAATTTTTTGTAGAGATAGGGTCTTGCTATGTTGCCCAGGCTGGTCTTGAACTCTTGGTCCTGCCTTAGCCTCCCAGAGCTCTGGGATTACAGGCGTGAACCACCGTGCCCGTCCCAAACACTCTGTTTCGACCTGCTTTTAAACAACTGACCCTTGGCTGCATTCAAAGGATCAGGGTGTCTGAAACTGGCCTCTGCAGCAGGACCTTCCTTCCTACACATCTCCCAGTGGCCAGTGTGAGGATTCTCCCCACAAGAAACCACTGGAGGGGGCCTCCTCCTGTCCGGGTTTGGGGCTGTACAAGGAGCATCATGGACCTGGCTCAGGCCTCAGGAGGGGCCCTGGGCTGGGGAAAATGTGGGATAGCATCGAGGCAGTCCCACTCCTACCCAGGGCCGGGCTAGACCTGGGGACAGTCTCAGCCATCTCCTCGCTGCGTCCACACAATTCCACCCCCACCCCCACCCCCAGGCTGGCCCTCACGGAAGAACAACAGCTGATGTTTGAGAAACTGACTCTGTATTGCGACAGCTACATCCAGCTCATCCCCATTTCCTTCGTGCTGGGTGAGTTCCCCCTTCTGGCTGTTCCGGGTCCCTGTGGCCGCCCAGGCTCCAGACAGGCCAGGGGAGGATCACGAGGAGCTGCGGCAAGGGGCTGGGGAGGGGGCGGGGGAACGCCAGCGGCAGGTCGGCGCCTCTCTGTAGGGAAAGGTGCGGACTGCAGCCAGTGAAACTGAAGTTAGACGTTAGGTAAGACGTCCTGCCGTTAGCAATGAAAACCCCATTTTCTGAGGGAAGCGCTGACATCATGGTCCCTGGAGCCCCTGCGCGGGAGGGGAGGGGGTCTGGCGGATTTCTGGGACCAGCAGGGGGACCCCCGGGTGACAGAACCCTTGGGGCTCTCGCGCCTCCATGCGAGGCTCTGCCTGCCTCTCGCTCCCGAGCGCCTTCCAGGAGGGCTGGGGGCTAGGCCCGCTCGCAGCAGAAAGCTGGAGGAGCCGAGGCATCGCCGGGCGCTGGGCCCTGGGCTCTGGCCGCAGCCTGGCCCCTCGCCCCTCGCCCCCCGCCCCTCCTGCCCAGGCTTCTACGTGACGCTGGTCGTGACCCGCTGGTGGAACCACTACGAGAACCTGCCGTGGCCCGACCGCCTCATGAGCCTGGTGTCGGGCTTCGTCGAAGGCAAGGACGAGCAAGGCCGGCTGCTGCGGCGCACGCTCATCCGCTACGCCAACCTGGGCAACGTGCTCATCCTGCGCAGCGTCAGCACCGCAGTCTACAAGCGCTTCCCCAGCGCCCAGCACCTGGTGCAAGCAGGTGGGCGGACCGGGAGCAACGGGGAGGCACCGGGCAGAGCCAGGGGCCGAGATGGGCGCGGCAGGAATGGAAGATGGGTGGAGCCAAAGTCCCCCGGACTCGGGGGATTGGGTGGAGCCAGGAGTGGGGTGTAGTCAAGATTTGGGGGTCCAATTGGGCGGGACAGAGTCGGGTGTCTGAAGGTGGGGCGAGGCCAGGAGCCCACCCTCCGAGAGTAGGAGTCTGAGGCAGGGCTAAGGACCCTTGAGGGATAATGGAAAGAAGGGTGACGGCTTGGGAACTGGTGAGGTACTAGGGTCTACTTCCCTCTGCCCTTGCCCCTCTTGATCTCCGGTTTCCACTCTGGAGGTATGGGACATTGGTCTCTGACACCCCCTCAGCCTGGCCTGACCTGGTCCTGGTTAATAAGACAGACCCAGGCTAGGCGTGGTGGCTGTCGCCTGTAATCCCAGTGCTTTAGGAGGCAAAGGTGGGAAGATCGCTTGAGCCCAGCTGTTTGAGACGCCCCTGAGCAACATAGCGAGACCCCCATCTCTACAAAAACATTAAAAATTAGCAGGGCATGGTGGCGTGTGCCTGCAGTCTGAGGCTGAGTATCGGGAGGCTGAGGCAGGAGGATCACTTGAGCCCAGCAGTTCCAGGCTGCAGTGCGCTAAGATCGCACCGCTGCACTCCAACCTCGGTGACAGAGCCAGACCCTTTCTCTGGAAATAAATAAATACCCTGCCCACATGCTCAGCCCAGAACAGCACCTAGTAGGTGCTCAGAAATTTTTTTGTTGTTGAAAGAAAGAGGATGGCAAAGGAGTGCTGAGGTTCCTATAGGTCAGCAGGTGCCGGCCATCCCTTCTGCAGGTTCTCCCACCCACCGCCTTCTTCACTCCACTCTGCAGGCTTTATGACTCCGGCAGAACACAAGCAGTTGGAGAAACTGAGCCTACCACACAACATGTTCTGGGTGCCCTGGGTGTGGTTTGCCAACCTGTCAATGAAGGCGTGGCTTGGAGGTCGAATCCGGGACCCTATCCTGCTCCAGAGCCTGCTGAACGTGAGCCCACTGTACAGACAGGGCTGCCGCAGAGTGGGAAGGGCTGTGGTCCACAGGAAACAAGGTTTCCTACAAAGAGAAGCCTTGGGCCCCTGAGGGTCTTCCGAGAGCCTGAGGTGGGGTTGCAGAATCTTTTCCAACAGCAATCCACAGCCCGAGGTGGTCCCTTCTCAGAGGCCCCTCCCTCTTCTCCAAGTCTGTGAGGTCCTGGTTCCCTTTTGATAGATGAGGAAGCTGAGACACAAAGAGGTTTAGTGAGCTTCCCATGGCCACACAGCCAGGAATGGACCATAGGTACCAGGCCCTGGTACCTGGAGAAGAGGTGGGGGCGAGCCCAGGGTGGGGGCAGGTGGTGTTCAGAACCCCATCCCCCTCTTCTGCCCCCCAGGAGATGAACACCTTGCGTACTCAGTGTGGACACCTGTATGCCTACGACTGGATTAGTATCCCACTGGTGTATACACAGGTGAGGACTAGGCTGGTGAGGCTGCCCTTTTGGGAAACTGAGGCTAGAAGGACCAAGGAAGCAGCTGGGGTGGGAAGGGCTCACCTAGAGGCTAAGTGGCTCCCCTGGGAGTTGGGTCCACACTTTGAAGTTGGGTCTGGACTTTGAAGTGCCAAGTTCTAAGAGTCCAGGCTCCTGCCTGGCCCAGTCCAGTAGAGGCAATGTGATTATCCCCATATTAAAGAGAGGTTGGCCGGGTGCAGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAAGCTGAGGCAGGTGGATCACCTGAGGTCAGGAGTTCGAGACCAGCCTGGCCAACATGGTGAAACCCC
|
Task1_train_15904
|
The gene BEST1 (bestrophin 1) on Chromosome 11 contains a mutation. Based on this information, is the variant pathogenic or benign? Provide the disease if relevant.
|
Pathogenic; not provided
|
TAAAATAAAAATCAAAAAATGATCTGGGCATGGTGGCTTATGCCTGTAGTCCCACCCAGCTCCTCAGGAGGCTGAAGCGGGAGGATTGCTTGAGCCCAGGAGGTTGAGGCTGCAGTGAGTCATGACTGTGCCACTGCCCTTGAGCCTGGGTAACAGAGCAAGACCCTATCTCAAAACAAACAAACAAACAAACAAACAAACAAAAACCAATAAACCAAAAACATTTATCTAAACAATAAAATAAAGGACAGATATAATCACCGAATATATGATAGCATTTTAAATTGAAAAAGCACTAATGACTACAATGGATTATAAAACATCAAATACATAAAATTCTTAAGTTCCTCCTAATACCAAATACAAAGCACATTGGTCTTTGGTTTTTACTTGGGCACTAATGCATGCTGAAAAAGAGTCAGACTTCATTTTTTAGAGTAGTTTTAGGTTCACAGCAAAATTGAGCAGAAGGTAGAGTTCTCATGTGTCTCTTTGCTCCTCCCCCTGCCCCCAGCCTCCCCACTATCAACACCCCCACACTACAGTGGTAGATTTATTACAATCCCTGAACCCACAGTGACACATCACTATCACCCAAAGTTCATAGCGTACAGCAGGGTTCACTCTTGGGCTGTACATTCCATGGGTTTGGATAAATGTGTAATGATGTCTCCACCATCACAGCATCAGGCAGAGTAGTTTCACTGCTCTAACAAAATCCTCTGCCTATTCACCCCTCTCATTAAAGCCAAACACTCTGTTTCTTTTTTTCTTTTTAGAGACAGTGTCTCGCTCTGTCACCCAGGCTGAAGTGCAATGGCAATCACAGCCCATTGCAGCCTCCAACTCCTGGGCTGAAGTGATCCTCCTATCTCAGCCTCCAGTGGCTACGACTGCAGGCATACGGCAACGGCACCCAACTAATTTTTTGTAGAGATAGGGTCTTGCTATGTTGCCCAGGCTGGTCTTGAACTCTTGGTCCTGCCTTAGCCTCCCAGAGCTCTGGGATTACAGGCGTGAACCACCGTGCCCGTCCCAAACACTCTGTTTCGACCTGCTTTTAAACAACTGACCCTTGGCTGCATTCAAAGGATCAGGGTGTCTGAAACTGGCCTCTGCAGCAGGACCTTCCTTCCTACACATCTCCCAGTGGCCAGTGTGAGGATTCTCCCCACAAGAAACCACTGGAGGGGGCCTCCTCCTGTCCGGGTTTGGGGCTGTACAAGGAGCATCATGGACCTGGCTCAGGCCTCAGGAGGGGCCCTGGGCTGGGGAAAATGTGGGATAGCATCGAGGCAGTCCCACTCCTACCCAGGGCCGGGCTAGACCTGGGGACAGTCTCAGCCATCTCCTCGCTGCGTCCACACAATTCCACCCCCACCCCCACCCCCAGGCTGGCCCTCACGGAAGAACAACAGCTGATGTTTGAGAAACTGACTCTGTATTGCGACAGCTACATCCAGCTCATCCCCATTTCCTTCGTGCTGGGTGAGTTCCCCCTTCTGGCTGTTCCGGGTCCCTGTGGCCGCCCAGGCTCCAGACAGGCCAGGGGAGGATCACGAGGAGCTGCGGCAAGGGGCTGGGGAGGGGGCGGGGGAACGCCAGCGGCAGGTCGGCGCCTCTCTGTAGGGAAAGGTGCGGACTGCAGCCAGTGAAACTGAAGTTAGACGTTAGGTAAGACGTCCTGCCGTTAGCAATGAAAACCCCATTTTCTGAGGGAAGCGCTGACATCATGGTCCCTGGAGCCCCTGCGCGGGAGGGGAGGGGGTCTGGCGGATTTCTGGGACCAGCAGGGGGACCCCCGGGTGACAGAACCCTTGGGGCTCTCGCGCCTCCATGCGAGGCTCTGCCTGCCTCTCGCTCCCGAGCGCCTTCCAGGAGGGCTGGGGGCTAGGCCCGCTCGCAGCAGAAAGCTGGAGGAGCCGAGGCATCGCCGGGCGCTGGGCCCTGGGCTCTGGCCGCAGCCTGGCCCCTCGCCCCTCGCCCCCCGCCCCTCCTGCCCAGGCTTCTACGTGACGCTGGTCGTGACCCGCTGGTGGAACCAGTACGAGAACCTGCCGTGGCCCGACCGCCTCATGAGCCTGGTGTCGGGCTTCGTCGAAGGCAAGGACGAGCAAGGCCGGCTGCTGCGGCGCACGCTCATCCGCTACGCCAACCTGGGCAACGTGCTCATCCTGCGCAGCGTCAGCACCGCAGTCTACAAGCGCTTCCCCAGCGCCCAGCACCTGGTGCAAGCAGGTGGGCGGACCGGGAGCAACGGGGAGGCACCGGGCAGAGCCAGGGGCCGAGATGGGCGCGGCAGGAATGGAAGATGGGTGGAGCCAAAGTCCCCCGGACTCGGGGGATTGGGTGGAGCCAGGAGTGGGGTGTAGTCAAGATTTGGGGGTCCAATTGGGCGGGACAGAGTCGGGTGTCTGAAGGTGGGGCGAGGCCAGGAGCCCACCCTCCGAGAGTAGGAGTCTGAGGCAGGGCTAAGGACCCTTGAGGGATAATGGAAAGAAGGGTGACGGCTTGGGAACTGGTGAGGTACTAGGGTCTACTTCCCTCTGCCCTTGCCCCTCTTGATCTCCGGTTTCCACTCTGGAGGTATGGGACATTGGTCTCTGACACCCCCTCAGCCTGGCCTGACCTGGTCCTGGTTAATAAGACAGACCCAGGCTAGGCGTGGTGGCTGTCGCCTGTAATCCCAGTGCTTTAGGAGGCAAAGGTGGGAAGATCGCTTGAGCCCAGCTGTTTGAGACGCCCCTGAGCAACATAGCGAGACCCCCATCTCTACAAAAACATTAAAAATTAGCAGGGCATGGTGGCGTGTGCCTGCAGTCTGAGGCTGAGTATCGGGAGGCTGAGGCAGGAGGATCACTTGAGCCCAGCAGTTCCAGGCTGCAGTGCGCTAAGATCGCACCGCTGCACTCCAACCTCGGTGACAGAGCCAGACCCTTTCTCTGGAAATAAATAAATACCCTGCCCACATGCTCAGCCCAGAACAGCACCTAGTAGGTGCTCAGAAATTTTTTTGTTGTTGAAAGAAAGAGGATGGCAAAGGAGTGCTGAGGTTCCTATAGGTCAGCAGGTGCCGGCCATCCCTTCTGCAGGTTCTCCCACCCACCGCCTTCTTCACTCCACTCTGCAGGCTTTATGACTCCGGCAGAACACAAGCAGTTGGAGAAACTGAGCCTACCACACAACATGTTCTGGGTGCCCTGGGTGTGGTTTGCCAACCTGTCAATGAAGGCGTGGCTTGGAGGTCGAATCCGGGACCCTATCCTGCTCCAGAGCCTGCTGAACGTGAGCCCACTGTACAGACAGGGCTGCCGCAGAGTGGGAAGGGCTGTGGTCCACAGGAAACAAGGTTTCCTACAAAGAGAAGCCTTGGGCCCCTGAGGGTCTTCCGAGAGCCTGAGGTGGGGTTGCAGAATCTTTTCCAACAGCAATCCACAGCCCGAGGTGGTCCCTTCTCAGAGGCCCCTCCCTCTTCTCCAAGTCTGTGAGGTCCTGGTTCCCTTTTGATAGATGAGGAAGCTGAGACACAAAGAGGTTTAGTGAGCTTCCCATGGCCACACAGCCAGGAATGGACCATAGGTACCAGGCCCTGGTACCTGGAGAAGAGGTGGGGGCGAGCCCAGGGTGGGGGCAGGTGGTGTTCAGAACCCCATCCCCCTCTTCTGCCCCCCAGGAGATGAACACCTTGCGTACTCAGTGTGGACACCTGTATGCCTACGACTGGATTAGTATCCCACTGGTGTATACACAGGTGAGGACTAGGCTGGTGAGGCTGCCCTTTTGGGAAACTGAGGCTAGAAGGACCAAGGAAGCAGCTGGGGTGGGAAGGGCTCACCTAGAGGCTAAGTGGCTCCCCTGGGAGTTGGGTCCACACTTTGAAGTTGGGTCTGGACTTTGAAGTGCCAAGTTCTAAGAGTCCAGGCTCCTGCCTGGCCCAGTCCAGTAGAGGCAATGTGATTATCCCCATATTAAAGAGAGGTTGGCCGGGTGCAGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAAGCTGAGGCAGGTGGATCACCTGAGGTCAGGAGTTCGAGACCAGCCTGGCCAACATGGTGAAACCCCATCT
|
TAAAATAAAAATCAAAAAATGATCTGGGCATGGTGGCTTATGCCTGTAGTCCCACCCAGCTCCTCAGGAGGCTGAAGCGGGAGGATTGCTTGAGCCCAGGAGGTTGAGGCTGCAGTGAGTCATGACTGTGCCACTGCCCTTGAGCCTGGGTAACAGAGCAAGACCCTATCTCAAAACAAACAAACAAACAAACAAACAAACAAAAACCAATAAACCAAAAACATTTATCTAAACAATAAAATAAAGGACAGATATAATCACCGAATATATGATAGCATTTTAAATTGAAAAAGCACTAATGACTACAATGGATTATAAAACATCAAATACATAAAATTCTTAAGTTCCTCCTAATACCAAATACAAAGCACATTGGTCTTTGGTTTTTACTTGGGCACTAATGCATGCTGAAAAAGAGTCAGACTTCATTTTTTAGAGTAGTTTTAGGTTCACAGCAAAATTGAGCAGAAGGTAGAGTTCTCATGTGTCTCTTTGCTCCTCCCCCTGCCCCCAGCCTCCCCACTATCAACACCCCCACACTACAGTGGTAGATTTATTACAATCCCTGAACCCACAGTGACACATCACTATCACCCAAAGTTCATAGCGTACAGCAGGGTTCACTCTTGGGCTGTACATTCCATGGGTTTGGATAAATGTGTAATGATGTCTCCACCATCACAGCATCAGGCAGAGTAGTTTCACTGCTCTAACAAAATCCTCTGCCTATTCACCCCTCTCATTAAAGCCAAACACTCTGTTTCTTTTTTTCTTTTTAGAGACAGTGTCTCGCTCTGTCACCCAGGCTGAAGTGCAATGGCAATCACAGCCCATTGCAGCCTCCAACTCCTGGGCTGAAGTGATCCTCCTATCTCAGCCTCCAGTGGCTACGACTGCAGGCATACGGCAACGGCACCCAACTAATTTTTTGTAGAGATAGGGTCTTGCTATGTTGCCCAGGCTGGTCTTGAACTCTTGGTCCTGCCTTAGCCTCCCAGAGCTCTGGGATTACAGGCGTGAACCACCGTGCCCGTCCCAAACACTCTGTTTCGACCTGCTTTTAAACAACTGACCCTTGGCTGCATTCAAAGGATCAGGGTGTCTGAAACTGGCCTCTGCAGCAGGACCTTCCTTCCTACACATCTCCCAGTGGCCAGTGTGAGGATTCTCCCCACAAGAAACCACTGGAGGGGGCCTCCTCCTGTCCGGGTTTGGGGCTGTACAAGGAGCATCATGGACCTGGCTCAGGCCTCAGGAGGGGCCCTGGGCTGGGGAAAATGTGGGATAGCATCGAGGCAGTCCCACTCCTACCCAGGGCCGGGCTAGACCTGGGGACAGTCTCAGCCATCTCCTCGCTGCGTCCACACAATTCCACCCCCACCCCCACCCCCAGGCTGGCCCTCACGGAAGAACAACAGCTGATGTTTGAGAAACTGACTCTGTATTGCGACAGCTACATCCAGCTCATCCCCATTTCCTTCGTGCTGGGTGAGTTCCCCCTTCTGGCTGTTCCGGGTCCCTGTGGCCGCCCAGGCTCCAGACAGGCCAGGGGAGGATCACGAGGAGCTGCGGCAAGGGGCTGGGGAGGGGGCGGGGGAACGCCAGCGGCAGGTCGGCGCCTCTCTGTAGGGAAAGGTGCGGACTGCAGCCAGTGAAACTGAAGTTAGACGTTAGGTAAGACGTCCTGCCGTTAGCAATGAAAACCCCATTTTCTGAGGGAAGCGCTGACATCATGGTCCCTGGAGCCCCTGCGCGGGAGGGGAGGGGGTCTGGCGGATTTCTGGGACCAGCAGGGGGACCCCCGGGTGACAGAACCCTTGGGGCTCTCGCGCCTCCATGCGAGGCTCTGCCTGCCTCTCGCTCCCGAGCGCCTTCCAGGAGGGCTGGGGGCTAGGCCCGCTCGCAGCAGAAAGCTGGAGGAGCCGAGGCATCGCCGGGCGCTGGGCCCTGGGCTCTGGCCGCAGCCTGGCCCCTCGCCCCTCGCCCCCCGCCCCTCCTGCCCAGGCTTCTACGTGACGCTGGTCGTGACCCGCTGGTGGAACCAGTACAAGAACCTGCCGTGGCCCGACCGCCTCATGAGCCTGGTGTCGGGCTTCGTCGAAGGCAAGGACGAGCAAGGCCGGCTGCTGCGGCGCACGCTCATCCGCTACGCCAACCTGGGCAACGTGCTCATCCTGCGCAGCGTCAGCACCGCAGTCTACAAGCGCTTCCCCAGCGCCCAGCACCTGGTGCAAGCAGGTGGGCGGACCGGGAGCAACGGGGAGGCACCGGGCAGAGCCAGGGGCCGAGATGGGCGCGGCAGGAATGGAAGATGGGTGGAGCCAAAGTCCCCCGGACTCGGGGGATTGGGTGGAGCCAGGAGTGGGGTGTAGTCAAGATTTGGGGGTCCAATTGGGCGGGACAGAGTCGGGTGTCTGAAGGTGGGGCGAGGCCAGGAGCCCACCCTCCGAGAGTAGGAGTCTGAGGCAGGGCTAAGGACCCTTGAGGGATAATGGAAAGAAGGGTGACGGCTTGGGAACTGGTGAGGTACTAGGGTCTACTTCCCTCTGCCCTTGCCCCTCTTGATCTCCGGTTTCCACTCTGGAGGTATGGGACATTGGTCTCTGACACCCCCTCAGCCTGGCCTGACCTGGTCCTGGTTAATAAGACAGACCCAGGCTAGGCGTGGTGGCTGTCGCCTGTAATCCCAGTGCTTTAGGAGGCAAAGGTGGGAAGATCGCTTGAGCCCAGCTGTTTGAGACGCCCCTGAGCAACATAGCGAGACCCCCATCTCTACAAAAACATTAAAAATTAGCAGGGCATGGTGGCGTGTGCCTGCAGTCTGAGGCTGAGTATCGGGAGGCTGAGGCAGGAGGATCACTTGAGCCCAGCAGTTCCAGGCTGCAGTGCGCTAAGATCGCACCGCTGCACTCCAACCTCGGTGACAGAGCCAGACCCTTTCTCTGGAAATAAATAAATACCCTGCCCACATGCTCAGCCCAGAACAGCACCTAGTAGGTGCTCAGAAATTTTTTTGTTGTTGAAAGAAAGAGGATGGCAAAGGAGTGCTGAGGTTCCTATAGGTCAGCAGGTGCCGGCCATCCCTTCTGCAGGTTCTCCCACCCACCGCCTTCTTCACTCCACTCTGCAGGCTTTATGACTCCGGCAGAACACAAGCAGTTGGAGAAACTGAGCCTACCACACAACATGTTCTGGGTGCCCTGGGTGTGGTTTGCCAACCTGTCAATGAAGGCGTGGCTTGGAGGTCGAATCCGGGACCCTATCCTGCTCCAGAGCCTGCTGAACGTGAGCCCACTGTACAGACAGGGCTGCCGCAGAGTGGGAAGGGCTGTGGTCCACAGGAAACAAGGTTTCCTACAAAGAGAAGCCTTGGGCCCCTGAGGGTCTTCCGAGAGCCTGAGGTGGGGTTGCAGAATCTTTTCCAACAGCAATCCACAGCCCGAGGTGGTCCCTTCTCAGAGGCCCCTCCCTCTTCTCCAAGTCTGTGAGGTCCTGGTTCCCTTTTGATAGATGAGGAAGCTGAGACACAAAGAGGTTTAGTGAGCTTCCCATGGCCACACAGCCAGGAATGGACCATAGGTACCAGGCCCTGGTACCTGGAGAAGAGGTGGGGGCGAGCCCAGGGTGGGGGCAGGTGGTGTTCAGAACCCCATCCCCCTCTTCTGCCCCCCAGGAGATGAACACCTTGCGTACTCAGTGTGGACACCTGTATGCCTACGACTGGATTAGTATCCCACTGGTGTATACACAGGTGAGGACTAGGCTGGTGAGGCTGCCCTTTTGGGAAACTGAGGCTAGAAGGACCAAGGAAGCAGCTGGGGTGGGAAGGGCTCACCTAGAGGCTAAGTGGCTCCCCTGGGAGTTGGGTCCACACTTTGAAGTTGGGTCTGGACTTTGAAGTGCCAAGTTCTAAGAGTCCAGGCTCCTGCCTGGCCCAGTCCAGTAGAGGCAATGTGATTATCCCCATATTAAAGAGAGGTTGGCCGGGTGCAGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAAGCTGAGGCAGGTGGATCACCTGAGGTCAGGAGTTCGAGACCAGCCTGGCCAACATGGTGAAACCCCATCT
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Task1_train_15905
|
Consider this mutation in BEST1 (bestrophin 1) on Chromosome 11. Is this a benign change or a disease-causing variant?
|
Pathogenic; not provided
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AAATAAAAATCAAAAAATGATCTGGGCATGGTGGCTTATGCCTGTAGTCCCACCCAGCTCCTCAGGAGGCTGAAGCGGGAGGATTGCTTGAGCCCAGGAGGTTGAGGCTGCAGTGAGTCATGACTGTGCCACTGCCCTTGAGCCTGGGTAACAGAGCAAGACCCTATCTCAAAACAAACAAACAAACAAACAAACAAACAAAAACCAATAAACCAAAAACATTTATCTAAACAATAAAATAAAGGACAGATATAATCACCGAATATATGATAGCATTTTAAATTGAAAAAGCACTAATGACTACAATGGATTATAAAACATCAAATACATAAAATTCTTAAGTTCCTCCTAATACCAAATACAAAGCACATTGGTCTTTGGTTTTTACTTGGGCACTAATGCATGCTGAAAAAGAGTCAGACTTCATTTTTTAGAGTAGTTTTAGGTTCACAGCAAAATTGAGCAGAAGGTAGAGTTCTCATGTGTCTCTTTGCTCCTCCCCCTGCCCCCAGCCTCCCCACTATCAACACCCCCACACTACAGTGGTAGATTTATTACAATCCCTGAACCCACAGTGACACATCACTATCACCCAAAGTTCATAGCGTACAGCAGGGTTCACTCTTGGGCTGTACATTCCATGGGTTTGGATAAATGTGTAATGATGTCTCCACCATCACAGCATCAGGCAGAGTAGTTTCACTGCTCTAACAAAATCCTCTGCCTATTCACCCCTCTCATTAAAGCCAAACACTCTGTTTCTTTTTTTCTTTTTAGAGACAGTGTCTCGCTCTGTCACCCAGGCTGAAGTGCAATGGCAATCACAGCCCATTGCAGCCTCCAACTCCTGGGCTGAAGTGATCCTCCTATCTCAGCCTCCAGTGGCTACGACTGCAGGCATACGGCAACGGCACCCAACTAATTTTTTGTAGAGATAGGGTCTTGCTATGTTGCCCAGGCTGGTCTTGAACTCTTGGTCCTGCCTTAGCCTCCCAGAGCTCTGGGATTACAGGCGTGAACCACCGTGCCCGTCCCAAACACTCTGTTTCGACCTGCTTTTAAACAACTGACCCTTGGCTGCATTCAAAGGATCAGGGTGTCTGAAACTGGCCTCTGCAGCAGGACCTTCCTTCCTACACATCTCCCAGTGGCCAGTGTGAGGATTCTCCCCACAAGAAACCACTGGAGGGGGCCTCCTCCTGTCCGGGTTTGGGGCTGTACAAGGAGCATCATGGACCTGGCTCAGGCCTCAGGAGGGGCCCTGGGCTGGGGAAAATGTGGGATAGCATCGAGGCAGTCCCACTCCTACCCAGGGCCGGGCTAGACCTGGGGACAGTCTCAGCCATCTCCTCGCTGCGTCCACACAATTCCACCCCCACCCCCACCCCCAGGCTGGCCCTCACGGAAGAACAACAGCTGATGTTTGAGAAACTGACTCTGTATTGCGACAGCTACATCCAGCTCATCCCCATTTCCTTCGTGCTGGGTGAGTTCCCCCTTCTGGCTGTTCCGGGTCCCTGTGGCCGCCCAGGCTCCAGACAGGCCAGGGGAGGATCACGAGGAGCTGCGGCAAGGGGCTGGGGAGGGGGCGGGGGAACGCCAGCGGCAGGTCGGCGCCTCTCTGTAGGGAAAGGTGCGGACTGCAGCCAGTGAAACTGAAGTTAGACGTTAGGTAAGACGTCCTGCCGTTAGCAATGAAAACCCCATTTTCTGAGGGAAGCGCTGACATCATGGTCCCTGGAGCCCCTGCGCGGGAGGGGAGGGGGTCTGGCGGATTTCTGGGACCAGCAGGGGGACCCCCGGGTGACAGAACCCTTGGGGCTCTCGCGCCTCCATGCGAGGCTCTGCCTGCCTCTCGCTCCCGAGCGCCTTCCAGGAGGGCTGGGGGCTAGGCCCGCTCGCAGCAGAAAGCTGGAGGAGCCGAGGCATCGCCGGGCGCTGGGCCCTGGGCTCTGGCCGCAGCCTGGCCCCTCGCCCCTCGCCCCCCGCCCCTCCTGCCCAGGCTTCTACGTGACGCTGGTCGTGACCCGCTGGTGGAACCAGTACGAGAACCTGCCGTGGCCCGACCGCCTCATGAGCCTGGTGTCGGGCTTCGTCGAAGGCAAGGACGAGCAAGGCCGGCTGCTGCGGCGCACGCTCATCCGCTACGCCAACCTGGGCAACGTGCTCATCCTGCGCAGCGTCAGCACCGCAGTCTACAAGCGCTTCCCCAGCGCCCAGCACCTGGTGCAAGCAGGTGGGCGGACCGGGAGCAACGGGGAGGCACCGGGCAGAGCCAGGGGCCGAGATGGGCGCGGCAGGAATGGAAGATGGGTGGAGCCAAAGTCCCCCGGACTCGGGGGATTGGGTGGAGCCAGGAGTGGGGTGTAGTCAAGATTTGGGGGTCCAATTGGGCGGGACAGAGTCGGGTGTCTGAAGGTGGGGCGAGGCCAGGAGCCCACCCTCCGAGAGTAGGAGTCTGAGGCAGGGCTAAGGACCCTTGAGGGATAATGGAAAGAAGGGTGACGGCTTGGGAACTGGTGAGGTACTAGGGTCTACTTCCCTCTGCCCTTGCCCCTCTTGATCTCCGGTTTCCACTCTGGAGGTATGGGACATTGGTCTCTGACACCCCCTCAGCCTGGCCTGACCTGGTCCTGGTTAATAAGACAGACCCAGGCTAGGCGTGGTGGCTGTCGCCTGTAATCCCAGTGCTTTAGGAGGCAAAGGTGGGAAGATCGCTTGAGCCCAGCTGTTTGAGACGCCCCTGAGCAACATAGCGAGACCCCCATCTCTACAAAAACATTAAAAATTAGCAGGGCATGGTGGCGTGTGCCTGCAGTCTGAGGCTGAGTATCGGGAGGCTGAGGCAGGAGGATCACTTGAGCCCAGCAGTTCCAGGCTGCAGTGCGCTAAGATCGCACCGCTGCACTCCAACCTCGGTGACAGAGCCAGACCCTTTCTCTGGAAATAAATAAATACCCTGCCCACATGCTCAGCCCAGAACAGCACCTAGTAGGTGCTCAGAAATTTTTTTGTTGTTGAAAGAAAGAGGATGGCAAAGGAGTGCTGAGGTTCCTATAGGTCAGCAGGTGCCGGCCATCCCTTCTGCAGGTTCTCCCACCCACCGCCTTCTTCACTCCACTCTGCAGGCTTTATGACTCCGGCAGAACACAAGCAGTTGGAGAAACTGAGCCTACCACACAACATGTTCTGGGTGCCCTGGGTGTGGTTTGCCAACCTGTCAATGAAGGCGTGGCTTGGAGGTCGAATCCGGGACCCTATCCTGCTCCAGAGCCTGCTGAACGTGAGCCCACTGTACAGACAGGGCTGCCGCAGAGTGGGAAGGGCTGTGGTCCACAGGAAACAAGGTTTCCTACAAAGAGAAGCCTTGGGCCCCTGAGGGTCTTCCGAGAGCCTGAGGTGGGGTTGCAGAATCTTTTCCAACAGCAATCCACAGCCCGAGGTGGTCCCTTCTCAGAGGCCCCTCCCTCTTCTCCAAGTCTGTGAGGTCCTGGTTCCCTTTTGATAGATGAGGAAGCTGAGACACAAAGAGGTTTAGTGAGCTTCCCATGGCCACACAGCCAGGAATGGACCATAGGTACCAGGCCCTGGTACCTGGAGAAGAGGTGGGGGCGAGCCCAGGGTGGGGGCAGGTGGTGTTCAGAACCCCATCCCCCTCTTCTGCCCCCCAGGAGATGAACACCTTGCGTACTCAGTGTGGACACCTGTATGCCTACGACTGGATTAGTATCCCACTGGTGTATACACAGGTGAGGACTAGGCTGGTGAGGCTGCCCTTTTGGGAAACTGAGGCTAGAAGGACCAAGGAAGCAGCTGGGGTGGGAAGGGCTCACCTAGAGGCTAAGTGGCTCCCCTGGGAGTTGGGTCCACACTTTGAAGTTGGGTCTGGACTTTGAAGTGCCAAGTTCTAAGAGTCCAGGCTCCTGCCTGGCCCAGTCCAGTAGAGGCAATGTGATTATCCCCATATTAAAGAGAGGTTGGCCGGGTGCAGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAAGCTGAGGCAGGTGGATCACCTGAGGTCAGGAGTTCGAGACCAGCCTGGCCAACATGGTGAAACCCCATCTCT
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AAATAAAAATCAAAAAATGATCTGGGCATGGTGGCTTATGCCTGTAGTCCCACCCAGCTCCTCAGGAGGCTGAAGCGGGAGGATTGCTTGAGCCCAGGAGGTTGAGGCTGCAGTGAGTCATGACTGTGCCACTGCCCTTGAGCCTGGGTAACAGAGCAAGACCCTATCTCAAAACAAACAAACAAACAAACAAACAAACAAAAACCAATAAACCAAAAACATTTATCTAAACAATAAAATAAAGGACAGATATAATCACCGAATATATGATAGCATTTTAAATTGAAAAAGCACTAATGACTACAATGGATTATAAAACATCAAATACATAAAATTCTTAAGTTCCTCCTAATACCAAATACAAAGCACATTGGTCTTTGGTTTTTACTTGGGCACTAATGCATGCTGAAAAAGAGTCAGACTTCATTTTTTAGAGTAGTTTTAGGTTCACAGCAAAATTGAGCAGAAGGTAGAGTTCTCATGTGTCTCTTTGCTCCTCCCCCTGCCCCCAGCCTCCCCACTATCAACACCCCCACACTACAGTGGTAGATTTATTACAATCCCTGAACCCACAGTGACACATCACTATCACCCAAAGTTCATAGCGTACAGCAGGGTTCACTCTTGGGCTGTACATTCCATGGGTTTGGATAAATGTGTAATGATGTCTCCACCATCACAGCATCAGGCAGAGTAGTTTCACTGCTCTAACAAAATCCTCTGCCTATTCACCCCTCTCATTAAAGCCAAACACTCTGTTTCTTTTTTTCTTTTTAGAGACAGTGTCTCGCTCTGTCACCCAGGCTGAAGTGCAATGGCAATCACAGCCCATTGCAGCCTCCAACTCCTGGGCTGAAGTGATCCTCCTATCTCAGCCTCCAGTGGCTACGACTGCAGGCATACGGCAACGGCACCCAACTAATTTTTTGTAGAGATAGGGTCTTGCTATGTTGCCCAGGCTGGTCTTGAACTCTTGGTCCTGCCTTAGCCTCCCAGAGCTCTGGGATTACAGGCGTGAACCACCGTGCCCGTCCCAAACACTCTGTTTCGACCTGCTTTTAAACAACTGACCCTTGGCTGCATTCAAAGGATCAGGGTGTCTGAAACTGGCCTCTGCAGCAGGACCTTCCTTCCTACACATCTCCCAGTGGCCAGTGTGAGGATTCTCCCCACAAGAAACCACTGGAGGGGGCCTCCTCCTGTCCGGGTTTGGGGCTGTACAAGGAGCATCATGGACCTGGCTCAGGCCTCAGGAGGGGCCCTGGGCTGGGGAAAATGTGGGATAGCATCGAGGCAGTCCCACTCCTACCCAGGGCCGGGCTAGACCTGGGGACAGTCTCAGCCATCTCCTCGCTGCGTCCACACAATTCCACCCCCACCCCCACCCCCAGGCTGGCCCTCACGGAAGAACAACAGCTGATGTTTGAGAAACTGACTCTGTATTGCGACAGCTACATCCAGCTCATCCCCATTTCCTTCGTGCTGGGTGAGTTCCCCCTTCTGGCTGTTCCGGGTCCCTGTGGCCGCCCAGGCTCCAGACAGGCCAGGGGAGGATCACGAGGAGCTGCGGCAAGGGGCTGGGGAGGGGGCGGGGGAACGCCAGCGGCAGGTCGGCGCCTCTCTGTAGGGAAAGGTGCGGACTGCAGCCAGTGAAACTGAAGTTAGACGTTAGGTAAGACGTCCTGCCGTTAGCAATGAAAACCCCATTTTCTGAGGGAAGCGCTGACATCATGGTCCCTGGAGCCCCTGCGCGGGAGGGGAGGGGGTCTGGCGGATTTCTGGGACCAGCAGGGGGACCCCCGGGTGACAGAACCCTTGGGGCTCTCGCGCCTCCATGCGAGGCTCTGCCTGCCTCTCGCTCCCGAGCGCCTTCCAGGAGGGCTGGGGGCTAGGCCCGCTCGCAGCAGAAAGCTGGAGGAGCCGAGGCATCGCCGGGCGCTGGGCCCTGGGCTCTGGCCGCAGCCTGGCCCCTCGCCCCTCGCCCCCCGCCCCTCCTGCCCAGGCTTCTACGTGACGCTGGTCGTGACCCGCTGGTGGAACCAGTACGACAACCTGCCGTGGCCCGACCGCCTCATGAGCCTGGTGTCGGGCTTCGTCGAAGGCAAGGACGAGCAAGGCCGGCTGCTGCGGCGCACGCTCATCCGCTACGCCAACCTGGGCAACGTGCTCATCCTGCGCAGCGTCAGCACCGCAGTCTACAAGCGCTTCCCCAGCGCCCAGCACCTGGTGCAAGCAGGTGGGCGGACCGGGAGCAACGGGGAGGCACCGGGCAGAGCCAGGGGCCGAGATGGGCGCGGCAGGAATGGAAGATGGGTGGAGCCAAAGTCCCCCGGACTCGGGGGATTGGGTGGAGCCAGGAGTGGGGTGTAGTCAAGATTTGGGGGTCCAATTGGGCGGGACAGAGTCGGGTGTCTGAAGGTGGGGCGAGGCCAGGAGCCCACCCTCCGAGAGTAGGAGTCTGAGGCAGGGCTAAGGACCCTTGAGGGATAATGGAAAGAAGGGTGACGGCTTGGGAACTGGTGAGGTACTAGGGTCTACTTCCCTCTGCCCTTGCCCCTCTTGATCTCCGGTTTCCACTCTGGAGGTATGGGACATTGGTCTCTGACACCCCCTCAGCCTGGCCTGACCTGGTCCTGGTTAATAAGACAGACCCAGGCTAGGCGTGGTGGCTGTCGCCTGTAATCCCAGTGCTTTAGGAGGCAAAGGTGGGAAGATCGCTTGAGCCCAGCTGTTTGAGACGCCCCTGAGCAACATAGCGAGACCCCCATCTCTACAAAAACATTAAAAATTAGCAGGGCATGGTGGCGTGTGCCTGCAGTCTGAGGCTGAGTATCGGGAGGCTGAGGCAGGAGGATCACTTGAGCCCAGCAGTTCCAGGCTGCAGTGCGCTAAGATCGCACCGCTGCACTCCAACCTCGGTGACAGAGCCAGACCCTTTCTCTGGAAATAAATAAATACCCTGCCCACATGCTCAGCCCAGAACAGCACCTAGTAGGTGCTCAGAAATTTTTTTGTTGTTGAAAGAAAGAGGATGGCAAAGGAGTGCTGAGGTTCCTATAGGTCAGCAGGTGCCGGCCATCCCTTCTGCAGGTTCTCCCACCCACCGCCTTCTTCACTCCACTCTGCAGGCTTTATGACTCCGGCAGAACACAAGCAGTTGGAGAAACTGAGCCTACCACACAACATGTTCTGGGTGCCCTGGGTGTGGTTTGCCAACCTGTCAATGAAGGCGTGGCTTGGAGGTCGAATCCGGGACCCTATCCTGCTCCAGAGCCTGCTGAACGTGAGCCCACTGTACAGACAGGGCTGCCGCAGAGTGGGAAGGGCTGTGGTCCACAGGAAACAAGGTTTCCTACAAAGAGAAGCCTTGGGCCCCTGAGGGTCTTCCGAGAGCCTGAGGTGGGGTTGCAGAATCTTTTCCAACAGCAATCCACAGCCCGAGGTGGTCCCTTCTCAGAGGCCCCTCCCTCTTCTCCAAGTCTGTGAGGTCCTGGTTCCCTTTTGATAGATGAGGAAGCTGAGACACAAAGAGGTTTAGTGAGCTTCCCATGGCCACACAGCCAGGAATGGACCATAGGTACCAGGCCCTGGTACCTGGAGAAGAGGTGGGGGCGAGCCCAGGGTGGGGGCAGGTGGTGTTCAGAACCCCATCCCCCTCTTCTGCCCCCCAGGAGATGAACACCTTGCGTACTCAGTGTGGACACCTGTATGCCTACGACTGGATTAGTATCCCACTGGTGTATACACAGGTGAGGACTAGGCTGGTGAGGCTGCCCTTTTGGGAAACTGAGGCTAGAAGGACCAAGGAAGCAGCTGGGGTGGGAAGGGCTCACCTAGAGGCTAAGTGGCTCCCCTGGGAGTTGGGTCCACACTTTGAAGTTGGGTCTGGACTTTGAAGTGCCAAGTTCTAAGAGTCCAGGCTCCTGCCTGGCCCAGTCCAGTAGAGGCAATGTGATTATCCCCATATTAAAGAGAGGTTGGCCGGGTGCAGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAAGCTGAGGCAGGTGGATCACCTGAGGTCAGGAGTTCGAGACCAGCCTGGCCAACATGGTGAAACCCCATCTCT
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Task1_train_15906
|
The gene BEST1 (bestrophin 1) on Chromosome 11 contains a mutation. Based on this information, is the variant pathogenic or benign? Provide the disease if relevant.
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Pathogenic; Retinal dystrophy
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TAAAAATCAAAAAATGATCTGGGCATGGTGGCTTATGCCTGTAGTCCCACCCAGCTCCTCAGGAGGCTGAAGCGGGAGGATTGCTTGAGCCCAGGAGGTTGAGGCTGCAGTGAGTCATGACTGTGCCACTGCCCTTGAGCCTGGGTAACAGAGCAAGACCCTATCTCAAAACAAACAAACAAACAAACAAACAAACAAAAACCAATAAACCAAAAACATTTATCTAAACAATAAAATAAAGGACAGATATAATCACCGAATATATGATAGCATTTTAAATTGAAAAAGCACTAATGACTACAATGGATTATAAAACATCAAATACATAAAATTCTTAAGTTCCTCCTAATACCAAATACAAAGCACATTGGTCTTTGGTTTTTACTTGGGCACTAATGCATGCTGAAAAAGAGTCAGACTTCATTTTTTAGAGTAGTTTTAGGTTCACAGCAAAATTGAGCAGAAGGTAGAGTTCTCATGTGTCTCTTTGCTCCTCCCCCTGCCCCCAGCCTCCCCACTATCAACACCCCCACACTACAGTGGTAGATTTATTACAATCCCTGAACCCACAGTGACACATCACTATCACCCAAAGTTCATAGCGTACAGCAGGGTTCACTCTTGGGCTGTACATTCCATGGGTTTGGATAAATGTGTAATGATGTCTCCACCATCACAGCATCAGGCAGAGTAGTTTCACTGCTCTAACAAAATCCTCTGCCTATTCACCCCTCTCATTAAAGCCAAACACTCTGTTTCTTTTTTTCTTTTTAGAGACAGTGTCTCGCTCTGTCACCCAGGCTGAAGTGCAATGGCAATCACAGCCCATTGCAGCCTCCAACTCCTGGGCTGAAGTGATCCTCCTATCTCAGCCTCCAGTGGCTACGACTGCAGGCATACGGCAACGGCACCCAACTAATTTTTTGTAGAGATAGGGTCTTGCTATGTTGCCCAGGCTGGTCTTGAACTCTTGGTCCTGCCTTAGCCTCCCAGAGCTCTGGGATTACAGGCGTGAACCACCGTGCCCGTCCCAAACACTCTGTTTCGACCTGCTTTTAAACAACTGACCCTTGGCTGCATTCAAAGGATCAGGGTGTCTGAAACTGGCCTCTGCAGCAGGACCTTCCTTCCTACACATCTCCCAGTGGCCAGTGTGAGGATTCTCCCCACAAGAAACCACTGGAGGGGGCCTCCTCCTGTCCGGGTTTGGGGCTGTACAAGGAGCATCATGGACCTGGCTCAGGCCTCAGGAGGGGCCCTGGGCTGGGGAAAATGTGGGATAGCATCGAGGCAGTCCCACTCCTACCCAGGGCCGGGCTAGACCTGGGGACAGTCTCAGCCATCTCCTCGCTGCGTCCACACAATTCCACCCCCACCCCCACCCCCAGGCTGGCCCTCACGGAAGAACAACAGCTGATGTTTGAGAAACTGACTCTGTATTGCGACAGCTACATCCAGCTCATCCCCATTTCCTTCGTGCTGGGTGAGTTCCCCCTTCTGGCTGTTCCGGGTCCCTGTGGCCGCCCAGGCTCCAGACAGGCCAGGGGAGGATCACGAGGAGCTGCGGCAAGGGGCTGGGGAGGGGGCGGGGGAACGCCAGCGGCAGGTCGGCGCCTCTCTGTAGGGAAAGGTGCGGACTGCAGCCAGTGAAACTGAAGTTAGACGTTAGGTAAGACGTCCTGCCGTTAGCAATGAAAACCCCATTTTCTGAGGGAAGCGCTGACATCATGGTCCCTGGAGCCCCTGCGCGGGAGGGGAGGGGGTCTGGCGGATTTCTGGGACCAGCAGGGGGACCCCCGGGTGACAGAACCCTTGGGGCTCTCGCGCCTCCATGCGAGGCTCTGCCTGCCTCTCGCTCCCGAGCGCCTTCCAGGAGGGCTGGGGGCTAGGCCCGCTCGCAGCAGAAAGCTGGAGGAGCCGAGGCATCGCCGGGCGCTGGGCCCTGGGCTCTGGCCGCAGCCTGGCCCCTCGCCCCTCGCCCCCCGCCCCTCCTGCCCAGGCTTCTACGTGACGCTGGTCGTGACCCGCTGGTGGAACCAGTACGAGAACCTGCCGTGGCCCGACCGCCTCATGAGCCTGGTGTCGGGCTTCGTCGAAGGCAAGGACGAGCAAGGCCGGCTGCTGCGGCGCACGCTCATCCGCTACGCCAACCTGGGCAACGTGCTCATCCTGCGCAGCGTCAGCACCGCAGTCTACAAGCGCTTCCCCAGCGCCCAGCACCTGGTGCAAGCAGGTGGGCGGACCGGGAGCAACGGGGAGGCACCGGGCAGAGCCAGGGGCCGAGATGGGCGCGGCAGGAATGGAAGATGGGTGGAGCCAAAGTCCCCCGGACTCGGGGGATTGGGTGGAGCCAGGAGTGGGGTGTAGTCAAGATTTGGGGGTCCAATTGGGCGGGACAGAGTCGGGTGTCTGAAGGTGGGGCGAGGCCAGGAGCCCACCCTCCGAGAGTAGGAGTCTGAGGCAGGGCTAAGGACCCTTGAGGGATAATGGAAAGAAGGGTGACGGCTTGGGAACTGGTGAGGTACTAGGGTCTACTTCCCTCTGCCCTTGCCCCTCTTGATCTCCGGTTTCCACTCTGGAGGTATGGGACATTGGTCTCTGACACCCCCTCAGCCTGGCCTGACCTGGTCCTGGTTAATAAGACAGACCCAGGCTAGGCGTGGTGGCTGTCGCCTGTAATCCCAGTGCTTTAGGAGGCAAAGGTGGGAAGATCGCTTGAGCCCAGCTGTTTGAGACGCCCCTGAGCAACATAGCGAGACCCCCATCTCTACAAAAACATTAAAAATTAGCAGGGCATGGTGGCGTGTGCCTGCAGTCTGAGGCTGAGTATCGGGAGGCTGAGGCAGGAGGATCACTTGAGCCCAGCAGTTCCAGGCTGCAGTGCGCTAAGATCGCACCGCTGCACTCCAACCTCGGTGACAGAGCCAGACCCTTTCTCTGGAAATAAATAAATACCCTGCCCACATGCTCAGCCCAGAACAGCACCTAGTAGGTGCTCAGAAATTTTTTTGTTGTTGAAAGAAAGAGGATGGCAAAGGAGTGCTGAGGTTCCTATAGGTCAGCAGGTGCCGGCCATCCCTTCTGCAGGTTCTCCCACCCACCGCCTTCTTCACTCCACTCTGCAGGCTTTATGACTCCGGCAGAACACAAGCAGTTGGAGAAACTGAGCCTACCACACAACATGTTCTGGGTGCCCTGGGTGTGGTTTGCCAACCTGTCAATGAAGGCGTGGCTTGGAGGTCGAATCCGGGACCCTATCCTGCTCCAGAGCCTGCTGAACGTGAGCCCACTGTACAGACAGGGCTGCCGCAGAGTGGGAAGGGCTGTGGTCCACAGGAAACAAGGTTTCCTACAAAGAGAAGCCTTGGGCCCCTGAGGGTCTTCCGAGAGCCTGAGGTGGGGTTGCAGAATCTTTTCCAACAGCAATCCACAGCCCGAGGTGGTCCCTTCTCAGAGGCCCCTCCCTCTTCTCCAAGTCTGTGAGGTCCTGGTTCCCTTTTGATAGATGAGGAAGCTGAGACACAAAGAGGTTTAGTGAGCTTCCCATGGCCACACAGCCAGGAATGGACCATAGGTACCAGGCCCTGGTACCTGGAGAAGAGGTGGGGGCGAGCCCAGGGTGGGGGCAGGTGGTGTTCAGAACCCCATCCCCCTCTTCTGCCCCCCAGGAGATGAACACCTTGCGTACTCAGTGTGGACACCTGTATGCCTACGACTGGATTAGTATCCCACTGGTGTATACACAGGTGAGGACTAGGCTGGTGAGGCTGCCCTTTTGGGAAACTGAGGCTAGAAGGACCAAGGAAGCAGCTGGGGTGGGAAGGGCTCACCTAGAGGCTAAGTGGCTCCCCTGGGAGTTGGGTCCACACTTTGAAGTTGGGTCTGGACTTTGAAGTGCCAAGTTCTAAGAGTCCAGGCTCCTGCCTGGCCCAGTCCAGTAGAGGCAATGTGATTATCCCCATATTAAAGAGAGGTTGGCCGGGTGCAGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAAGCTGAGGCAGGTGGATCACCTGAGGTCAGGAGTTCGAGACCAGCCTGGCCAACATGGTGAAACCCCATCTCTACT
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TAAAAATCAAAAAATGATCTGGGCATGGTGGCTTATGCCTGTAGTCCCACCCAGCTCCTCAGGAGGCTGAAGCGGGAGGATTGCTTGAGCCCAGGAGGTTGAGGCTGCAGTGAGTCATGACTGTGCCACTGCCCTTGAGCCTGGGTAACAGAGCAAGACCCTATCTCAAAACAAACAAACAAACAAACAAACAAACAAAAACCAATAAACCAAAAACATTTATCTAAACAATAAAATAAAGGACAGATATAATCACCGAATATATGATAGCATTTTAAATTGAAAAAGCACTAATGACTACAATGGATTATAAAACATCAAATACATAAAATTCTTAAGTTCCTCCTAATACCAAATACAAAGCACATTGGTCTTTGGTTTTTACTTGGGCACTAATGCATGCTGAAAAAGAGTCAGACTTCATTTTTTAGAGTAGTTTTAGGTTCACAGCAAAATTGAGCAGAAGGTAGAGTTCTCATGTGTCTCTTTGCTCCTCCCCCTGCCCCCAGCCTCCCCACTATCAACACCCCCACACTACAGTGGTAGATTTATTACAATCCCTGAACCCACAGTGACACATCACTATCACCCAAAGTTCATAGCGTACAGCAGGGTTCACTCTTGGGCTGTACATTCCATGGGTTTGGATAAATGTGTAATGATGTCTCCACCATCACAGCATCAGGCAGAGTAGTTTCACTGCTCTAACAAAATCCTCTGCCTATTCACCCCTCTCATTAAAGCCAAACACTCTGTTTCTTTTTTTCTTTTTAGAGACAGTGTCTCGCTCTGTCACCCAGGCTGAAGTGCAATGGCAATCACAGCCCATTGCAGCCTCCAACTCCTGGGCTGAAGTGATCCTCCTATCTCAGCCTCCAGTGGCTACGACTGCAGGCATACGGCAACGGCACCCAACTAATTTTTTGTAGAGATAGGGTCTTGCTATGTTGCCCAGGCTGGTCTTGAACTCTTGGTCCTGCCTTAGCCTCCCAGAGCTCTGGGATTACAGGCGTGAACCACCGTGCCCGTCCCAAACACTCTGTTTCGACCTGCTTTTAAACAACTGACCCTTGGCTGCATTCAAAGGATCAGGGTGTCTGAAACTGGCCTCTGCAGCAGGACCTTCCTTCCTACACATCTCCCAGTGGCCAGTGTGAGGATTCTCCCCACAAGAAACCACTGGAGGGGGCCTCCTCCTGTCCGGGTTTGGGGCTGTACAAGGAGCATCATGGACCTGGCTCAGGCCTCAGGAGGGGCCCTGGGCTGGGGAAAATGTGGGATAGCATCGAGGCAGTCCCACTCCTACCCAGGGCCGGGCTAGACCTGGGGACAGTCTCAGCCATCTCCTCGCTGCGTCCACACAATTCCACCCCCACCCCCACCCCCAGGCTGGCCCTCACGGAAGAACAACAGCTGATGTTTGAGAAACTGACTCTGTATTGCGACAGCTACATCCAGCTCATCCCCATTTCCTTCGTGCTGGGTGAGTTCCCCCTTCTGGCTGTTCCGGGTCCCTGTGGCCGCCCAGGCTCCAGACAGGCCAGGGGAGGATCACGAGGAGCTGCGGCAAGGGGCTGGGGAGGGGGCGGGGGAACGCCAGCGGCAGGTCGGCGCCTCTCTGTAGGGAAAGGTGCGGACTGCAGCCAGTGAAACTGAAGTTAGACGTTAGGTAAGACGTCCTGCCGTTAGCAATGAAAACCCCATTTTCTGAGGGAAGCGCTGACATCATGGTCCCTGGAGCCCCTGCGCGGGAGGGGAGGGGGTCTGGCGGATTTCTGGGACCAGCAGGGGGACCCCCGGGTGACAGAACCCTTGGGGCTCTCGCGCCTCCATGCGAGGCTCTGCCTGCCTCTCGCTCCCGAGCGCCTTCCAGGAGGGCTGGGGGCTAGGCCCGCTCGCAGCAGAAAGCTGGAGGAGCCGAGGCATCGCCGGGCGCTGGGCCCTGGGCTCTGGCCGCAGCCTGGCCCCTCGCCCCTCGCCCCCCGCCCCTCCTGCCCAGGCTTCTACGTGACGCTGGTCGTGACCCGCTGGTGGAACCAGTACGAGAAACTGCCGTGGCCCGACCGCCTCATGAGCCTGGTGTCGGGCTTCGTCGAAGGCAAGGACGAGCAAGGCCGGCTGCTGCGGCGCACGCTCATCCGCTACGCCAACCTGGGCAACGTGCTCATCCTGCGCAGCGTCAGCACCGCAGTCTACAAGCGCTTCCCCAGCGCCCAGCACCTGGTGCAAGCAGGTGGGCGGACCGGGAGCAACGGGGAGGCACCGGGCAGAGCCAGGGGCCGAGATGGGCGCGGCAGGAATGGAAGATGGGTGGAGCCAAAGTCCCCCGGACTCGGGGGATTGGGTGGAGCCAGGAGTGGGGTGTAGTCAAGATTTGGGGGTCCAATTGGGCGGGACAGAGTCGGGTGTCTGAAGGTGGGGCGAGGCCAGGAGCCCACCCTCCGAGAGTAGGAGTCTGAGGCAGGGCTAAGGACCCTTGAGGGATAATGGAAAGAAGGGTGACGGCTTGGGAACTGGTGAGGTACTAGGGTCTACTTCCCTCTGCCCTTGCCCCTCTTGATCTCCGGTTTCCACTCTGGAGGTATGGGACATTGGTCTCTGACACCCCCTCAGCCTGGCCTGACCTGGTCCTGGTTAATAAGACAGACCCAGGCTAGGCGTGGTGGCTGTCGCCTGTAATCCCAGTGCTTTAGGAGGCAAAGGTGGGAAGATCGCTTGAGCCCAGCTGTTTGAGACGCCCCTGAGCAACATAGCGAGACCCCCATCTCTACAAAAACATTAAAAATTAGCAGGGCATGGTGGCGTGTGCCTGCAGTCTGAGGCTGAGTATCGGGAGGCTGAGGCAGGAGGATCACTTGAGCCCAGCAGTTCCAGGCTGCAGTGCGCTAAGATCGCACCGCTGCACTCCAACCTCGGTGACAGAGCCAGACCCTTTCTCTGGAAATAAATAAATACCCTGCCCACATGCTCAGCCCAGAACAGCACCTAGTAGGTGCTCAGAAATTTTTTTGTTGTTGAAAGAAAGAGGATGGCAAAGGAGTGCTGAGGTTCCTATAGGTCAGCAGGTGCCGGCCATCCCTTCTGCAGGTTCTCCCACCCACCGCCTTCTTCACTCCACTCTGCAGGCTTTATGACTCCGGCAGAACACAAGCAGTTGGAGAAACTGAGCCTACCACACAACATGTTCTGGGTGCCCTGGGTGTGGTTTGCCAACCTGTCAATGAAGGCGTGGCTTGGAGGTCGAATCCGGGACCCTATCCTGCTCCAGAGCCTGCTGAACGTGAGCCCACTGTACAGACAGGGCTGCCGCAGAGTGGGAAGGGCTGTGGTCCACAGGAAACAAGGTTTCCTACAAAGAGAAGCCTTGGGCCCCTGAGGGTCTTCCGAGAGCCTGAGGTGGGGTTGCAGAATCTTTTCCAACAGCAATCCACAGCCCGAGGTGGTCCCTTCTCAGAGGCCCCTCCCTCTTCTCCAAGTCTGTGAGGTCCTGGTTCCCTTTTGATAGATGAGGAAGCTGAGACACAAAGAGGTTTAGTGAGCTTCCCATGGCCACACAGCCAGGAATGGACCATAGGTACCAGGCCCTGGTACCTGGAGAAGAGGTGGGGGCGAGCCCAGGGTGGGGGCAGGTGGTGTTCAGAACCCCATCCCCCTCTTCTGCCCCCCAGGAGATGAACACCTTGCGTACTCAGTGTGGACACCTGTATGCCTACGACTGGATTAGTATCCCACTGGTGTATACACAGGTGAGGACTAGGCTGGTGAGGCTGCCCTTTTGGGAAACTGAGGCTAGAAGGACCAAGGAAGCAGCTGGGGTGGGAAGGGCTCACCTAGAGGCTAAGTGGCTCCCCTGGGAGTTGGGTCCACACTTTGAAGTTGGGTCTGGACTTTGAAGTGCCAAGTTCTAAGAGTCCAGGCTCCTGCCTGGCCCAGTCCAGTAGAGGCAATGTGATTATCCCCATATTAAAGAGAGGTTGGCCGGGTGCAGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAAGCTGAGGCAGGTGGATCACCTGAGGTCAGGAGTTCGAGACCAGCCTGGCCAACATGGTGAAACCCCATCTCTACT
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Task1_train_15907
|
The gene BEST1 (bestrophin 1), on Chromosome 11, contains a mutation. Does this mutation cause a disorder, or is it a benign change?
|
Pathogenic; not provided
|
AATCAAAAAATGATCTGGGCATGGTGGCTTATGCCTGTAGTCCCACCCAGCTCCTCAGGAGGCTGAAGCGGGAGGATTGCTTGAGCCCAGGAGGTTGAGGCTGCAGTGAGTCATGACTGTGCCACTGCCCTTGAGCCTGGGTAACAGAGCAAGACCCTATCTCAAAACAAACAAACAAACAAACAAACAAACAAAAACCAATAAACCAAAAACATTTATCTAAACAATAAAATAAAGGACAGATATAATCACCGAATATATGATAGCATTTTAAATTGAAAAAGCACTAATGACTACAATGGATTATAAAACATCAAATACATAAAATTCTTAAGTTCCTCCTAATACCAAATACAAAGCACATTGGTCTTTGGTTTTTACTTGGGCACTAATGCATGCTGAAAAAGAGTCAGACTTCATTTTTTAGAGTAGTTTTAGGTTCACAGCAAAATTGAGCAGAAGGTAGAGTTCTCATGTGTCTCTTTGCTCCTCCCCCTGCCCCCAGCCTCCCCACTATCAACACCCCCACACTACAGTGGTAGATTTATTACAATCCCTGAACCCACAGTGACACATCACTATCACCCAAAGTTCATAGCGTACAGCAGGGTTCACTCTTGGGCTGTACATTCCATGGGTTTGGATAAATGTGTAATGATGTCTCCACCATCACAGCATCAGGCAGAGTAGTTTCACTGCTCTAACAAAATCCTCTGCCTATTCACCCCTCTCATTAAAGCCAAACACTCTGTTTCTTTTTTTCTTTTTAGAGACAGTGTCTCGCTCTGTCACCCAGGCTGAAGTGCAATGGCAATCACAGCCCATTGCAGCCTCCAACTCCTGGGCTGAAGTGATCCTCCTATCTCAGCCTCCAGTGGCTACGACTGCAGGCATACGGCAACGGCACCCAACTAATTTTTTGTAGAGATAGGGTCTTGCTATGTTGCCCAGGCTGGTCTTGAACTCTTGGTCCTGCCTTAGCCTCCCAGAGCTCTGGGATTACAGGCGTGAACCACCGTGCCCGTCCCAAACACTCTGTTTCGACCTGCTTTTAAACAACTGACCCTTGGCTGCATTCAAAGGATCAGGGTGTCTGAAACTGGCCTCTGCAGCAGGACCTTCCTTCCTACACATCTCCCAGTGGCCAGTGTGAGGATTCTCCCCACAAGAAACCACTGGAGGGGGCCTCCTCCTGTCCGGGTTTGGGGCTGTACAAGGAGCATCATGGACCTGGCTCAGGCCTCAGGAGGGGCCCTGGGCTGGGGAAAATGTGGGATAGCATCGAGGCAGTCCCACTCCTACCCAGGGCCGGGCTAGACCTGGGGACAGTCTCAGCCATCTCCTCGCTGCGTCCACACAATTCCACCCCCACCCCCACCCCCAGGCTGGCCCTCACGGAAGAACAACAGCTGATGTTTGAGAAACTGACTCTGTATTGCGACAGCTACATCCAGCTCATCCCCATTTCCTTCGTGCTGGGTGAGTTCCCCCTTCTGGCTGTTCCGGGTCCCTGTGGCCGCCCAGGCTCCAGACAGGCCAGGGGAGGATCACGAGGAGCTGCGGCAAGGGGCTGGGGAGGGGGCGGGGGAACGCCAGCGGCAGGTCGGCGCCTCTCTGTAGGGAAAGGTGCGGACTGCAGCCAGTGAAACTGAAGTTAGACGTTAGGTAAGACGTCCTGCCGTTAGCAATGAAAACCCCATTTTCTGAGGGAAGCGCTGACATCATGGTCCCTGGAGCCCCTGCGCGGGAGGGGAGGGGGTCTGGCGGATTTCTGGGACCAGCAGGGGGACCCCCGGGTGACAGAACCCTTGGGGCTCTCGCGCCTCCATGCGAGGCTCTGCCTGCCTCTCGCTCCCGAGCGCCTTCCAGGAGGGCTGGGGGCTAGGCCCGCTCGCAGCAGAAAGCTGGAGGAGCCGAGGCATCGCCGGGCGCTGGGCCCTGGGCTCTGGCCGCAGCCTGGCCCCTCGCCCCTCGCCCCCCGCCCCTCCTGCCCAGGCTTCTACGTGACGCTGGTCGTGACCCGCTGGTGGAACCAGTACGAGAACCTGCCGTGGCCCGACCGCCTCATGAGCCTGGTGTCGGGCTTCGTCGAAGGCAAGGACGAGCAAGGCCGGCTGCTGCGGCGCACGCTCATCCGCTACGCCAACCTGGGCAACGTGCTCATCCTGCGCAGCGTCAGCACCGCAGTCTACAAGCGCTTCCCCAGCGCCCAGCACCTGGTGCAAGCAGGTGGGCGGACCGGGAGCAACGGGGAGGCACCGGGCAGAGCCAGGGGCCGAGATGGGCGCGGCAGGAATGGAAGATGGGTGGAGCCAAAGTCCCCCGGACTCGGGGGATTGGGTGGAGCCAGGAGTGGGGTGTAGTCAAGATTTGGGGGTCCAATTGGGCGGGACAGAGTCGGGTGTCTGAAGGTGGGGCGAGGCCAGGAGCCCACCCTCCGAGAGTAGGAGTCTGAGGCAGGGCTAAGGACCCTTGAGGGATAATGGAAAGAAGGGTGACGGCTTGGGAACTGGTGAGGTACTAGGGTCTACTTCCCTCTGCCCTTGCCCCTCTTGATCTCCGGTTTCCACTCTGGAGGTATGGGACATTGGTCTCTGACACCCCCTCAGCCTGGCCTGACCTGGTCCTGGTTAATAAGACAGACCCAGGCTAGGCGTGGTGGCTGTCGCCTGTAATCCCAGTGCTTTAGGAGGCAAAGGTGGGAAGATCGCTTGAGCCCAGCTGTTTGAGACGCCCCTGAGCAACATAGCGAGACCCCCATCTCTACAAAAACATTAAAAATTAGCAGGGCATGGTGGCGTGTGCCTGCAGTCTGAGGCTGAGTATCGGGAGGCTGAGGCAGGAGGATCACTTGAGCCCAGCAGTTCCAGGCTGCAGTGCGCTAAGATCGCACCGCTGCACTCCAACCTCGGTGACAGAGCCAGACCCTTTCTCTGGAAATAAATAAATACCCTGCCCACATGCTCAGCCCAGAACAGCACCTAGTAGGTGCTCAGAAATTTTTTTGTTGTTGAAAGAAAGAGGATGGCAAAGGAGTGCTGAGGTTCCTATAGGTCAGCAGGTGCCGGCCATCCCTTCTGCAGGTTCTCCCACCCACCGCCTTCTTCACTCCACTCTGCAGGCTTTATGACTCCGGCAGAACACAAGCAGTTGGAGAAACTGAGCCTACCACACAACATGTTCTGGGTGCCCTGGGTGTGGTTTGCCAACCTGTCAATGAAGGCGTGGCTTGGAGGTCGAATCCGGGACCCTATCCTGCTCCAGAGCCTGCTGAACGTGAGCCCACTGTACAGACAGGGCTGCCGCAGAGTGGGAAGGGCTGTGGTCCACAGGAAACAAGGTTTCCTACAAAGAGAAGCCTTGGGCCCCTGAGGGTCTTCCGAGAGCCTGAGGTGGGGTTGCAGAATCTTTTCCAACAGCAATCCACAGCCCGAGGTGGTCCCTTCTCAGAGGCCCCTCCCTCTTCTCCAAGTCTGTGAGGTCCTGGTTCCCTTTTGATAGATGAGGAAGCTGAGACACAAAGAGGTTTAGTGAGCTTCCCATGGCCACACAGCCAGGAATGGACCATAGGTACCAGGCCCTGGTACCTGGAGAAGAGGTGGGGGCGAGCCCAGGGTGGGGGCAGGTGGTGTTCAGAACCCCATCCCCCTCTTCTGCCCCCCAGGAGATGAACACCTTGCGTACTCAGTGTGGACACCTGTATGCCTACGACTGGATTAGTATCCCACTGGTGTATACACAGGTGAGGACTAGGCTGGTGAGGCTGCCCTTTTGGGAAACTGAGGCTAGAAGGACCAAGGAAGCAGCTGGGGTGGGAAGGGCTCACCTAGAGGCTAAGTGGCTCCCCTGGGAGTTGGGTCCACACTTTGAAGTTGGGTCTGGACTTTGAAGTGCCAAGTTCTAAGAGTCCAGGCTCCTGCCTGGCCCAGTCCAGTAGAGGCAATGTGATTATCCCCATATTAAAGAGAGGTTGGCCGGGTGCAGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAAGCTGAGGCAGGTGGATCACCTGAGGTCAGGAGTTCGAGACCAGCCTGGCCAACATGGTGAAACCCCATCTCTACTGAAA
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AATCAAAAAATGATCTGGGCATGGTGGCTTATGCCTGTAGTCCCACCCAGCTCCTCAGGAGGCTGAAGCGGGAGGATTGCTTGAGCCCAGGAGGTTGAGGCTGCAGTGAGTCATGACTGTGCCACTGCCCTTGAGCCTGGGTAACAGAGCAAGACCCTATCTCAAAACAAACAAACAAACAAACAAACAAACAAAAACCAATAAACCAAAAACATTTATCTAAACAATAAAATAAAGGACAGATATAATCACCGAATATATGATAGCATTTTAAATTGAAAAAGCACTAATGACTACAATGGATTATAAAACATCAAATACATAAAATTCTTAAGTTCCTCCTAATACCAAATACAAAGCACATTGGTCTTTGGTTTTTACTTGGGCACTAATGCATGCTGAAAAAGAGTCAGACTTCATTTTTTAGAGTAGTTTTAGGTTCACAGCAAAATTGAGCAGAAGGTAGAGTTCTCATGTGTCTCTTTGCTCCTCCCCCTGCCCCCAGCCTCCCCACTATCAACACCCCCACACTACAGTGGTAGATTTATTACAATCCCTGAACCCACAGTGACACATCACTATCACCCAAAGTTCATAGCGTACAGCAGGGTTCACTCTTGGGCTGTACATTCCATGGGTTTGGATAAATGTGTAATGATGTCTCCACCATCACAGCATCAGGCAGAGTAGTTTCACTGCTCTAACAAAATCCTCTGCCTATTCACCCCTCTCATTAAAGCCAAACACTCTGTTTCTTTTTTTCTTTTTAGAGACAGTGTCTCGCTCTGTCACCCAGGCTGAAGTGCAATGGCAATCACAGCCCATTGCAGCCTCCAACTCCTGGGCTGAAGTGATCCTCCTATCTCAGCCTCCAGTGGCTACGACTGCAGGCATACGGCAACGGCACCCAACTAATTTTTTGTAGAGATAGGGTCTTGCTATGTTGCCCAGGCTGGTCTTGAACTCTTGGTCCTGCCTTAGCCTCCCAGAGCTCTGGGATTACAGGCGTGAACCACCGTGCCCGTCCCAAACACTCTGTTTCGACCTGCTTTTAAACAACTGACCCTTGGCTGCATTCAAAGGATCAGGGTGTCTGAAACTGGCCTCTGCAGCAGGACCTTCCTTCCTACACATCTCCCAGTGGCCAGTGTGAGGATTCTCCCCACAAGAAACCACTGGAGGGGGCCTCCTCCTGTCCGGGTTTGGGGCTGTACAAGGAGCATCATGGACCTGGCTCAGGCCTCAGGAGGGGCCCTGGGCTGGGGAAAATGTGGGATAGCATCGAGGCAGTCCCACTCCTACCCAGGGCCGGGCTAGACCTGGGGACAGTCTCAGCCATCTCCTCGCTGCGTCCACACAATTCCACCCCCACCCCCACCCCCAGGCTGGCCCTCACGGAAGAACAACAGCTGATGTTTGAGAAACTGACTCTGTATTGCGACAGCTACATCCAGCTCATCCCCATTTCCTTCGTGCTGGGTGAGTTCCCCCTTCTGGCTGTTCCGGGTCCCTGTGGCCGCCCAGGCTCCAGACAGGCCAGGGGAGGATCACGAGGAGCTGCGGCAAGGGGCTGGGGAGGGGGCGGGGGAACGCCAGCGGCAGGTCGGCGCCTCTCTGTAGGGAAAGGTGCGGACTGCAGCCAGTGAAACTGAAGTTAGACGTTAGGTAAGACGTCCTGCCGTTAGCAATGAAAACCCCATTTTCTGAGGGAAGCGCTGACATCATGGTCCCTGGAGCCCCTGCGCGGGAGGGGAGGGGGTCTGGCGGATTTCTGGGACCAGCAGGGGGACCCCCGGGTGACAGAACCCTTGGGGCTCTCGCGCCTCCATGCGAGGCTCTGCCTGCCTCTCGCTCCCGAGCGCCTTCCAGGAGGGCTGGGGGCTAGGCCCGCTCGCAGCAGAAAGCTGGAGGAGCCGAGGCATCGCCGGGCGCTGGGCCCTGGGCTCTGGCCGCAGCCTGGCCCCTCGCCCCTCGCCCCCCGCCCCTCCTGCCCAGGCTTCTACGTGACGCTGGTCGTGACCCGCTGGTGGAACCAGTACGAGAACCTGACGTGGCCCGACCGCCTCATGAGCCTGGTGTCGGGCTTCGTCGAAGGCAAGGACGAGCAAGGCCGGCTGCTGCGGCGCACGCTCATCCGCTACGCCAACCTGGGCAACGTGCTCATCCTGCGCAGCGTCAGCACCGCAGTCTACAAGCGCTTCCCCAGCGCCCAGCACCTGGTGCAAGCAGGTGGGCGGACCGGGAGCAACGGGGAGGCACCGGGCAGAGCCAGGGGCCGAGATGGGCGCGGCAGGAATGGAAGATGGGTGGAGCCAAAGTCCCCCGGACTCGGGGGATTGGGTGGAGCCAGGAGTGGGGTGTAGTCAAGATTTGGGGGTCCAATTGGGCGGGACAGAGTCGGGTGTCTGAAGGTGGGGCGAGGCCAGGAGCCCACCCTCCGAGAGTAGGAGTCTGAGGCAGGGCTAAGGACCCTTGAGGGATAATGGAAAGAAGGGTGACGGCTTGGGAACTGGTGAGGTACTAGGGTCTACTTCCCTCTGCCCTTGCCCCTCTTGATCTCCGGTTTCCACTCTGGAGGTATGGGACATTGGTCTCTGACACCCCCTCAGCCTGGCCTGACCTGGTCCTGGTTAATAAGACAGACCCAGGCTAGGCGTGGTGGCTGTCGCCTGTAATCCCAGTGCTTTAGGAGGCAAAGGTGGGAAGATCGCTTGAGCCCAGCTGTTTGAGACGCCCCTGAGCAACATAGCGAGACCCCCATCTCTACAAAAACATTAAAAATTAGCAGGGCATGGTGGCGTGTGCCTGCAGTCTGAGGCTGAGTATCGGGAGGCTGAGGCAGGAGGATCACTTGAGCCCAGCAGTTCCAGGCTGCAGTGCGCTAAGATCGCACCGCTGCACTCCAACCTCGGTGACAGAGCCAGACCCTTTCTCTGGAAATAAATAAATACCCTGCCCACATGCTCAGCCCAGAACAGCACCTAGTAGGTGCTCAGAAATTTTTTTGTTGTTGAAAGAAAGAGGATGGCAAAGGAGTGCTGAGGTTCCTATAGGTCAGCAGGTGCCGGCCATCCCTTCTGCAGGTTCTCCCACCCACCGCCTTCTTCACTCCACTCTGCAGGCTTTATGACTCCGGCAGAACACAAGCAGTTGGAGAAACTGAGCCTACCACACAACATGTTCTGGGTGCCCTGGGTGTGGTTTGCCAACCTGTCAATGAAGGCGTGGCTTGGAGGTCGAATCCGGGACCCTATCCTGCTCCAGAGCCTGCTGAACGTGAGCCCACTGTACAGACAGGGCTGCCGCAGAGTGGGAAGGGCTGTGGTCCACAGGAAACAAGGTTTCCTACAAAGAGAAGCCTTGGGCCCCTGAGGGTCTTCCGAGAGCCTGAGGTGGGGTTGCAGAATCTTTTCCAACAGCAATCCACAGCCCGAGGTGGTCCCTTCTCAGAGGCCCCTCCCTCTTCTCCAAGTCTGTGAGGTCCTGGTTCCCTTTTGATAGATGAGGAAGCTGAGACACAAAGAGGTTTAGTGAGCTTCCCATGGCCACACAGCCAGGAATGGACCATAGGTACCAGGCCCTGGTACCTGGAGAAGAGGTGGGGGCGAGCCCAGGGTGGGGGCAGGTGGTGTTCAGAACCCCATCCCCCTCTTCTGCCCCCCAGGAGATGAACACCTTGCGTACTCAGTGTGGACACCTGTATGCCTACGACTGGATTAGTATCCCACTGGTGTATACACAGGTGAGGACTAGGCTGGTGAGGCTGCCCTTTTGGGAAACTGAGGCTAGAAGGACCAAGGAAGCAGCTGGGGTGGGAAGGGCTCACCTAGAGGCTAAGTGGCTCCCCTGGGAGTTGGGTCCACACTTTGAAGTTGGGTCTGGACTTTGAAGTGCCAAGTTCTAAGAGTCCAGGCTCCTGCCTGGCCCAGTCCAGTAGAGGCAATGTGATTATCCCCATATTAAAGAGAGGTTGGCCGGGTGCAGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAAGCTGAGGCAGGTGGATCACCTGAGGTCAGGAGTTCGAGACCAGCCTGGCCAACATGGTGAAACCCCATCTCTACTGAAA
|
Task1_train_15908
|
The gene BEST1 (bestrophin 1), on Chromosome 11, contains a mutation. Does this mutation cause a disorder, or is it a benign change?
|
Pathogenic; not provided
|
ATGATCTGGGCATGGTGGCTTATGCCTGTAGTCCCACCCAGCTCCTCAGGAGGCTGAAGCGGGAGGATTGCTTGAGCCCAGGAGGTTGAGGCTGCAGTGAGTCATGACTGTGCCACTGCCCTTGAGCCTGGGTAACAGAGCAAGACCCTATCTCAAAACAAACAAACAAACAAACAAACAAACAAAAACCAATAAACCAAAAACATTTATCTAAACAATAAAATAAAGGACAGATATAATCACCGAATATATGATAGCATTTTAAATTGAAAAAGCACTAATGACTACAATGGATTATAAAACATCAAATACATAAAATTCTTAAGTTCCTCCTAATACCAAATACAAAGCACATTGGTCTTTGGTTTTTACTTGGGCACTAATGCATGCTGAAAAAGAGTCAGACTTCATTTTTTAGAGTAGTTTTAGGTTCACAGCAAAATTGAGCAGAAGGTAGAGTTCTCATGTGTCTCTTTGCTCCTCCCCCTGCCCCCAGCCTCCCCACTATCAACACCCCCACACTACAGTGGTAGATTTATTACAATCCCTGAACCCACAGTGACACATCACTATCACCCAAAGTTCATAGCGTACAGCAGGGTTCACTCTTGGGCTGTACATTCCATGGGTTTGGATAAATGTGTAATGATGTCTCCACCATCACAGCATCAGGCAGAGTAGTTTCACTGCTCTAACAAAATCCTCTGCCTATTCACCCCTCTCATTAAAGCCAAACACTCTGTTTCTTTTTTTCTTTTTAGAGACAGTGTCTCGCTCTGTCACCCAGGCTGAAGTGCAATGGCAATCACAGCCCATTGCAGCCTCCAACTCCTGGGCTGAAGTGATCCTCCTATCTCAGCCTCCAGTGGCTACGACTGCAGGCATACGGCAACGGCACCCAACTAATTTTTTGTAGAGATAGGGTCTTGCTATGTTGCCCAGGCTGGTCTTGAACTCTTGGTCCTGCCTTAGCCTCCCAGAGCTCTGGGATTACAGGCGTGAACCACCGTGCCCGTCCCAAACACTCTGTTTCGACCTGCTTTTAAACAACTGACCCTTGGCTGCATTCAAAGGATCAGGGTGTCTGAAACTGGCCTCTGCAGCAGGACCTTCCTTCCTACACATCTCCCAGTGGCCAGTGTGAGGATTCTCCCCACAAGAAACCACTGGAGGGGGCCTCCTCCTGTCCGGGTTTGGGGCTGTACAAGGAGCATCATGGACCTGGCTCAGGCCTCAGGAGGGGCCCTGGGCTGGGGAAAATGTGGGATAGCATCGAGGCAGTCCCACTCCTACCCAGGGCCGGGCTAGACCTGGGGACAGTCTCAGCCATCTCCTCGCTGCGTCCACACAATTCCACCCCCACCCCCACCCCCAGGCTGGCCCTCACGGAAGAACAACAGCTGATGTTTGAGAAACTGACTCTGTATTGCGACAGCTACATCCAGCTCATCCCCATTTCCTTCGTGCTGGGTGAGTTCCCCCTTCTGGCTGTTCCGGGTCCCTGTGGCCGCCCAGGCTCCAGACAGGCCAGGGGAGGATCACGAGGAGCTGCGGCAAGGGGCTGGGGAGGGGGCGGGGGAACGCCAGCGGCAGGTCGGCGCCTCTCTGTAGGGAAAGGTGCGGACTGCAGCCAGTGAAACTGAAGTTAGACGTTAGGTAAGACGTCCTGCCGTTAGCAATGAAAACCCCATTTTCTGAGGGAAGCGCTGACATCATGGTCCCTGGAGCCCCTGCGCGGGAGGGGAGGGGGTCTGGCGGATTTCTGGGACCAGCAGGGGGACCCCCGGGTGACAGAACCCTTGGGGCTCTCGCGCCTCCATGCGAGGCTCTGCCTGCCTCTCGCTCCCGAGCGCCTTCCAGGAGGGCTGGGGGCTAGGCCCGCTCGCAGCAGAAAGCTGGAGGAGCCGAGGCATCGCCGGGCGCTGGGCCCTGGGCTCTGGCCGCAGCCTGGCCCCTCGCCCCTCGCCCCCCGCCCCTCCTGCCCAGGCTTCTACGTGACGCTGGTCGTGACCCGCTGGTGGAACCAGTACGAGAACCTGCCGTGGCCCGACCGCCTCATGAGCCTGGTGTCGGGCTTCGTCGAAGGCAAGGACGAGCAAGGCCGGCTGCTGCGGCGCACGCTCATCCGCTACGCCAACCTGGGCAACGTGCTCATCCTGCGCAGCGTCAGCACCGCAGTCTACAAGCGCTTCCCCAGCGCCCAGCACCTGGTGCAAGCAGGTGGGCGGACCGGGAGCAACGGGGAGGCACCGGGCAGAGCCAGGGGCCGAGATGGGCGCGGCAGGAATGGAAGATGGGTGGAGCCAAAGTCCCCCGGACTCGGGGGATTGGGTGGAGCCAGGAGTGGGGTGTAGTCAAGATTTGGGGGTCCAATTGGGCGGGACAGAGTCGGGTGTCTGAAGGTGGGGCGAGGCCAGGAGCCCACCCTCCGAGAGTAGGAGTCTGAGGCAGGGCTAAGGACCCTTGAGGGATAATGGAAAGAAGGGTGACGGCTTGGGAACTGGTGAGGTACTAGGGTCTACTTCCCTCTGCCCTTGCCCCTCTTGATCTCCGGTTTCCACTCTGGAGGTATGGGACATTGGTCTCTGACACCCCCTCAGCCTGGCCTGACCTGGTCCTGGTTAATAAGACAGACCCAGGCTAGGCGTGGTGGCTGTCGCCTGTAATCCCAGTGCTTTAGGAGGCAAAGGTGGGAAGATCGCTTGAGCCCAGCTGTTTGAGACGCCCCTGAGCAACATAGCGAGACCCCCATCTCTACAAAAACATTAAAAATTAGCAGGGCATGGTGGCGTGTGCCTGCAGTCTGAGGCTGAGTATCGGGAGGCTGAGGCAGGAGGATCACTTGAGCCCAGCAGTTCCAGGCTGCAGTGCGCTAAGATCGCACCGCTGCACTCCAACCTCGGTGACAGAGCCAGACCCTTTCTCTGGAAATAAATAAATACCCTGCCCACATGCTCAGCCCAGAACAGCACCTAGTAGGTGCTCAGAAATTTTTTTGTTGTTGAAAGAAAGAGGATGGCAAAGGAGTGCTGAGGTTCCTATAGGTCAGCAGGTGCCGGCCATCCCTTCTGCAGGTTCTCCCACCCACCGCCTTCTTCACTCCACTCTGCAGGCTTTATGACTCCGGCAGAACACAAGCAGTTGGAGAAACTGAGCCTACCACACAACATGTTCTGGGTGCCCTGGGTGTGGTTTGCCAACCTGTCAATGAAGGCGTGGCTTGGAGGTCGAATCCGGGACCCTATCCTGCTCCAGAGCCTGCTGAACGTGAGCCCACTGTACAGACAGGGCTGCCGCAGAGTGGGAAGGGCTGTGGTCCACAGGAAACAAGGTTTCCTACAAAGAGAAGCCTTGGGCCCCTGAGGGTCTTCCGAGAGCCTGAGGTGGGGTTGCAGAATCTTTTCCAACAGCAATCCACAGCCCGAGGTGGTCCCTTCTCAGAGGCCCCTCCCTCTTCTCCAAGTCTGTGAGGTCCTGGTTCCCTTTTGATAGATGAGGAAGCTGAGACACAAAGAGGTTTAGTGAGCTTCCCATGGCCACACAGCCAGGAATGGACCATAGGTACCAGGCCCTGGTACCTGGAGAAGAGGTGGGGGCGAGCCCAGGGTGGGGGCAGGTGGTGTTCAGAACCCCATCCCCCTCTTCTGCCCCCCAGGAGATGAACACCTTGCGTACTCAGTGTGGACACCTGTATGCCTACGACTGGATTAGTATCCCACTGGTGTATACACAGGTGAGGACTAGGCTGGTGAGGCTGCCCTTTTGGGAAACTGAGGCTAGAAGGACCAAGGAAGCAGCTGGGGTGGGAAGGGCTCACCTAGAGGCTAAGTGGCTCCCCTGGGAGTTGGGTCCACACTTTGAAGTTGGGTCTGGACTTTGAAGTGCCAAGTTCTAAGAGTCCAGGCTCCTGCCTGGCCCAGTCCAGTAGAGGCAATGTGATTATCCCCATATTAAAGAGAGGTTGGCCGGGTGCAGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAAGCTGAGGCAGGTGGATCACCTGAGGTCAGGAGTTCGAGACCAGCCTGGCCAACATGGTGAAACCCCATCTCTACTGAAAATACAGAAT
|
ATGATCTGGGCATGGTGGCTTATGCCTGTAGTCCCACCCAGCTCCTCAGGAGGCTGAAGCGGGAGGATTGCTTGAGCCCAGGAGGTTGAGGCTGCAGTGAGTCATGACTGTGCCACTGCCCTTGAGCCTGGGTAACAGAGCAAGACCCTATCTCAAAACAAACAAACAAACAAACAAACAAACAAAAACCAATAAACCAAAAACATTTATCTAAACAATAAAATAAAGGACAGATATAATCACCGAATATATGATAGCATTTTAAATTGAAAAAGCACTAATGACTACAATGGATTATAAAACATCAAATACATAAAATTCTTAAGTTCCTCCTAATACCAAATACAAAGCACATTGGTCTTTGGTTTTTACTTGGGCACTAATGCATGCTGAAAAAGAGTCAGACTTCATTTTTTAGAGTAGTTTTAGGTTCACAGCAAAATTGAGCAGAAGGTAGAGTTCTCATGTGTCTCTTTGCTCCTCCCCCTGCCCCCAGCCTCCCCACTATCAACACCCCCACACTACAGTGGTAGATTTATTACAATCCCTGAACCCACAGTGACACATCACTATCACCCAAAGTTCATAGCGTACAGCAGGGTTCACTCTTGGGCTGTACATTCCATGGGTTTGGATAAATGTGTAATGATGTCTCCACCATCACAGCATCAGGCAGAGTAGTTTCACTGCTCTAACAAAATCCTCTGCCTATTCACCCCTCTCATTAAAGCCAAACACTCTGTTTCTTTTTTTCTTTTTAGAGACAGTGTCTCGCTCTGTCACCCAGGCTGAAGTGCAATGGCAATCACAGCCCATTGCAGCCTCCAACTCCTGGGCTGAAGTGATCCTCCTATCTCAGCCTCCAGTGGCTACGACTGCAGGCATACGGCAACGGCACCCAACTAATTTTTTGTAGAGATAGGGTCTTGCTATGTTGCCCAGGCTGGTCTTGAACTCTTGGTCCTGCCTTAGCCTCCCAGAGCTCTGGGATTACAGGCGTGAACCACCGTGCCCGTCCCAAACACTCTGTTTCGACCTGCTTTTAAACAACTGACCCTTGGCTGCATTCAAAGGATCAGGGTGTCTGAAACTGGCCTCTGCAGCAGGACCTTCCTTCCTACACATCTCCCAGTGGCCAGTGTGAGGATTCTCCCCACAAGAAACCACTGGAGGGGGCCTCCTCCTGTCCGGGTTTGGGGCTGTACAAGGAGCATCATGGACCTGGCTCAGGCCTCAGGAGGGGCCCTGGGCTGGGGAAAATGTGGGATAGCATCGAGGCAGTCCCACTCCTACCCAGGGCCGGGCTAGACCTGGGGACAGTCTCAGCCATCTCCTCGCTGCGTCCACACAATTCCACCCCCACCCCCACCCCCAGGCTGGCCCTCACGGAAGAACAACAGCTGATGTTTGAGAAACTGACTCTGTATTGCGACAGCTACATCCAGCTCATCCCCATTTCCTTCGTGCTGGGTGAGTTCCCCCTTCTGGCTGTTCCGGGTCCCTGTGGCCGCCCAGGCTCCAGACAGGCCAGGGGAGGATCACGAGGAGCTGCGGCAAGGGGCTGGGGAGGGGGCGGGGGAACGCCAGCGGCAGGTCGGCGCCTCTCTGTAGGGAAAGGTGCGGACTGCAGCCAGTGAAACTGAAGTTAGACGTTAGGTAAGACGTCCTGCCGTTAGCAATGAAAACCCCATTTTCTGAGGGAAGCGCTGACATCATGGTCCCTGGAGCCCCTGCGCGGGAGGGGAGGGGGTCTGGCGGATTTCTGGGACCAGCAGGGGGACCCCCGGGTGACAGAACCCTTGGGGCTCTCGCGCCTCCATGCGAGGCTCTGCCTGCCTCTCGCTCCCGAGCGCCTTCCAGGAGGGCTGGGGGCTAGGCCCGCTCGCAGCAGAAAGCTGGAGGAGCCGAGGCATCGCCGGGCGCTGGGCCCTGGGCTCTGGCCGCAGCCTGGCCCCTCGCCCCTCGCCCCCCGCCCCTCCTGCCCAGGCTTCTACGTGACGCTGGTCGTGACCCGCTGGTGGAACCAGTACGAGAACCTGCCGTGGCCCCACCGCCTCATGAGCCTGGTGTCGGGCTTCGTCGAAGGCAAGGACGAGCAAGGCCGGCTGCTGCGGCGCACGCTCATCCGCTACGCCAACCTGGGCAACGTGCTCATCCTGCGCAGCGTCAGCACCGCAGTCTACAAGCGCTTCCCCAGCGCCCAGCACCTGGTGCAAGCAGGTGGGCGGACCGGGAGCAACGGGGAGGCACCGGGCAGAGCCAGGGGCCGAGATGGGCGCGGCAGGAATGGAAGATGGGTGGAGCCAAAGTCCCCCGGACTCGGGGGATTGGGTGGAGCCAGGAGTGGGGTGTAGTCAAGATTTGGGGGTCCAATTGGGCGGGACAGAGTCGGGTGTCTGAAGGTGGGGCGAGGCCAGGAGCCCACCCTCCGAGAGTAGGAGTCTGAGGCAGGGCTAAGGACCCTTGAGGGATAATGGAAAGAAGGGTGACGGCTTGGGAACTGGTGAGGTACTAGGGTCTACTTCCCTCTGCCCTTGCCCCTCTTGATCTCCGGTTTCCACTCTGGAGGTATGGGACATTGGTCTCTGACACCCCCTCAGCCTGGCCTGACCTGGTCCTGGTTAATAAGACAGACCCAGGCTAGGCGTGGTGGCTGTCGCCTGTAATCCCAGTGCTTTAGGAGGCAAAGGTGGGAAGATCGCTTGAGCCCAGCTGTTTGAGACGCCCCTGAGCAACATAGCGAGACCCCCATCTCTACAAAAACATTAAAAATTAGCAGGGCATGGTGGCGTGTGCCTGCAGTCTGAGGCTGAGTATCGGGAGGCTGAGGCAGGAGGATCACTTGAGCCCAGCAGTTCCAGGCTGCAGTGCGCTAAGATCGCACCGCTGCACTCCAACCTCGGTGACAGAGCCAGACCCTTTCTCTGGAAATAAATAAATACCCTGCCCACATGCTCAGCCCAGAACAGCACCTAGTAGGTGCTCAGAAATTTTTTTGTTGTTGAAAGAAAGAGGATGGCAAAGGAGTGCTGAGGTTCCTATAGGTCAGCAGGTGCCGGCCATCCCTTCTGCAGGTTCTCCCACCCACCGCCTTCTTCACTCCACTCTGCAGGCTTTATGACTCCGGCAGAACACAAGCAGTTGGAGAAACTGAGCCTACCACACAACATGTTCTGGGTGCCCTGGGTGTGGTTTGCCAACCTGTCAATGAAGGCGTGGCTTGGAGGTCGAATCCGGGACCCTATCCTGCTCCAGAGCCTGCTGAACGTGAGCCCACTGTACAGACAGGGCTGCCGCAGAGTGGGAAGGGCTGTGGTCCACAGGAAACAAGGTTTCCTACAAAGAGAAGCCTTGGGCCCCTGAGGGTCTTCCGAGAGCCTGAGGTGGGGTTGCAGAATCTTTTCCAACAGCAATCCACAGCCCGAGGTGGTCCCTTCTCAGAGGCCCCTCCCTCTTCTCCAAGTCTGTGAGGTCCTGGTTCCCTTTTGATAGATGAGGAAGCTGAGACACAAAGAGGTTTAGTGAGCTTCCCATGGCCACACAGCCAGGAATGGACCATAGGTACCAGGCCCTGGTACCTGGAGAAGAGGTGGGGGCGAGCCCAGGGTGGGGGCAGGTGGTGTTCAGAACCCCATCCCCCTCTTCTGCCCCCCAGGAGATGAACACCTTGCGTACTCAGTGTGGACACCTGTATGCCTACGACTGGATTAGTATCCCACTGGTGTATACACAGGTGAGGACTAGGCTGGTGAGGCTGCCCTTTTGGGAAACTGAGGCTAGAAGGACCAAGGAAGCAGCTGGGGTGGGAAGGGCTCACCTAGAGGCTAAGTGGCTCCCCTGGGAGTTGGGTCCACACTTTGAAGTTGGGTCTGGACTTTGAAGTGCCAAGTTCTAAGAGTCCAGGCTCCTGCCTGGCCCAGTCCAGTAGAGGCAATGTGATTATCCCCATATTAAAGAGAGGTTGGCCGGGTGCAGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAAGCTGAGGCAGGTGGATCACCTGAGGTCAGGAGTTCGAGACCAGCCTGGCCAACATGGTGAAACCCCATCTCTACTGAAAATACAGAAT
|
Task1_train_15909
|
Here is a genetic alteration in BEST1 (bestrophin 1) on Chromosome 11. Based on the data, is it a benign variant or a cause of disease?
|
Pathogenic; not provided
|
GGCTGCAGTGAGTCATGACTGTGCCACTGCCCTTGAGCCTGGGTAACAGAGCAAGACCCTATCTCAAAACAAACAAACAAACAAACAAACAAACAAAAACCAATAAACCAAAAACATTTATCTAAACAATAAAATAAAGGACAGATATAATCACCGAATATATGATAGCATTTTAAATTGAAAAAGCACTAATGACTACAATGGATTATAAAACATCAAATACATAAAATTCTTAAGTTCCTCCTAATACCAAATACAAAGCACATTGGTCTTTGGTTTTTACTTGGGCACTAATGCATGCTGAAAAAGAGTCAGACTTCATTTTTTAGAGTAGTTTTAGGTTCACAGCAAAATTGAGCAGAAGGTAGAGTTCTCATGTGTCTCTTTGCTCCTCCCCCTGCCCCCAGCCTCCCCACTATCAACACCCCCACACTACAGTGGTAGATTTATTACAATCCCTGAACCCACAGTGACACATCACTATCACCCAAAGTTCATAGCGTACAGCAGGGTTCACTCTTGGGCTGTACATTCCATGGGTTTGGATAAATGTGTAATGATGTCTCCACCATCACAGCATCAGGCAGAGTAGTTTCACTGCTCTAACAAAATCCTCTGCCTATTCACCCCTCTCATTAAAGCCAAACACTCTGTTTCTTTTTTTCTTTTTAGAGACAGTGTCTCGCTCTGTCACCCAGGCTGAAGTGCAATGGCAATCACAGCCCATTGCAGCCTCCAACTCCTGGGCTGAAGTGATCCTCCTATCTCAGCCTCCAGTGGCTACGACTGCAGGCATACGGCAACGGCACCCAACTAATTTTTTGTAGAGATAGGGTCTTGCTATGTTGCCCAGGCTGGTCTTGAACTCTTGGTCCTGCCTTAGCCTCCCAGAGCTCTGGGATTACAGGCGTGAACCACCGTGCCCGTCCCAAACACTCTGTTTCGACCTGCTTTTAAACAACTGACCCTTGGCTGCATTCAAAGGATCAGGGTGTCTGAAACTGGCCTCTGCAGCAGGACCTTCCTTCCTACACATCTCCCAGTGGCCAGTGTGAGGATTCTCCCCACAAGAAACCACTGGAGGGGGCCTCCTCCTGTCCGGGTTTGGGGCTGTACAAGGAGCATCATGGACCTGGCTCAGGCCTCAGGAGGGGCCCTGGGCTGGGGAAAATGTGGGATAGCATCGAGGCAGTCCCACTCCTACCCAGGGCCGGGCTAGACCTGGGGACAGTCTCAGCCATCTCCTCGCTGCGTCCACACAATTCCACCCCCACCCCCACCCCCAGGCTGGCCCTCACGGAAGAACAACAGCTGATGTTTGAGAAACTGACTCTGTATTGCGACAGCTACATCCAGCTCATCCCCATTTCCTTCGTGCTGGGTGAGTTCCCCCTTCTGGCTGTTCCGGGTCCCTGTGGCCGCCCAGGCTCCAGACAGGCCAGGGGAGGATCACGAGGAGCTGCGGCAAGGGGCTGGGGAGGGGGCGGGGGAACGCCAGCGGCAGGTCGGCGCCTCTCTGTAGGGAAAGGTGCGGACTGCAGCCAGTGAAACTGAAGTTAGACGTTAGGTAAGACGTCCTGCCGTTAGCAATGAAAACCCCATTTTCTGAGGGAAGCGCTGACATCATGGTCCCTGGAGCCCCTGCGCGGGAGGGGAGGGGGTCTGGCGGATTTCTGGGACCAGCAGGGGGACCCCCGGGTGACAGAACCCTTGGGGCTCTCGCGCCTCCATGCGAGGCTCTGCCTGCCTCTCGCTCCCGAGCGCCTTCCAGGAGGGCTGGGGGCTAGGCCCGCTCGCAGCAGAAAGCTGGAGGAGCCGAGGCATCGCCGGGCGCTGGGCCCTGGGCTCTGGCCGCAGCCTGGCCCCTCGCCCCTCGCCCCCCGCCCCTCCTGCCCAGGCTTCTACGTGACGCTGGTCGTGACCCGCTGGTGGAACCAGTACGAGAACCTGCCGTGGCCCGACCGCCTCATGAGCCTGGTGTCGGGCTTCGTCGAAGGCAAGGACGAGCAAGGCCGGCTGCTGCGGCGCACGCTCATCCGCTACGCCAACCTGGGCAACGTGCTCATCCTGCGCAGCGTCAGCACCGCAGTCTACAAGCGCTTCCCCAGCGCCCAGCACCTGGTGCAAGCAGGTGGGCGGACCGGGAGCAACGGGGAGGCACCGGGCAGAGCCAGGGGCCGAGATGGGCGCGGCAGGAATGGAAGATGGGTGGAGCCAAAGTCCCCCGGACTCGGGGGATTGGGTGGAGCCAGGAGTGGGGTGTAGTCAAGATTTGGGGGTCCAATTGGGCGGGACAGAGTCGGGTGTCTGAAGGTGGGGCGAGGCCAGGAGCCCACCCTCCGAGAGTAGGAGTCTGAGGCAGGGCTAAGGACCCTTGAGGGATAATGGAAAGAAGGGTGACGGCTTGGGAACTGGTGAGGTACTAGGGTCTACTTCCCTCTGCCCTTGCCCCTCTTGATCTCCGGTTTCCACTCTGGAGGTATGGGACATTGGTCTCTGACACCCCCTCAGCCTGGCCTGACCTGGTCCTGGTTAATAAGACAGACCCAGGCTAGGCGTGGTGGCTGTCGCCTGTAATCCCAGTGCTTTAGGAGGCAAAGGTGGGAAGATCGCTTGAGCCCAGCTGTTTGAGACGCCCCTGAGCAACATAGCGAGACCCCCATCTCTACAAAAACATTAAAAATTAGCAGGGCATGGTGGCGTGTGCCTGCAGTCTGAGGCTGAGTATCGGGAGGCTGAGGCAGGAGGATCACTTGAGCCCAGCAGTTCCAGGCTGCAGTGCGCTAAGATCGCACCGCTGCACTCCAACCTCGGTGACAGAGCCAGACCCTTTCTCTGGAAATAAATAAATACCCTGCCCACATGCTCAGCCCAGAACAGCACCTAGTAGGTGCTCAGAAATTTTTTTGTTGTTGAAAGAAAGAGGATGGCAAAGGAGTGCTGAGGTTCCTATAGGTCAGCAGGTGCCGGCCATCCCTTCTGCAGGTTCTCCCACCCACCGCCTTCTTCACTCCACTCTGCAGGCTTTATGACTCCGGCAGAACACAAGCAGTTGGAGAAACTGAGCCTACCACACAACATGTTCTGGGTGCCCTGGGTGTGGTTTGCCAACCTGTCAATGAAGGCGTGGCTTGGAGGTCGAATCCGGGACCCTATCCTGCTCCAGAGCCTGCTGAACGTGAGCCCACTGTACAGACAGGGCTGCCGCAGAGTGGGAAGGGCTGTGGTCCACAGGAAACAAGGTTTCCTACAAAGAGAAGCCTTGGGCCCCTGAGGGTCTTCCGAGAGCCTGAGGTGGGGTTGCAGAATCTTTTCCAACAGCAATCCACAGCCCGAGGTGGTCCCTTCTCAGAGGCCCCTCCCTCTTCTCCAAGTCTGTGAGGTCCTGGTTCCCTTTTGATAGATGAGGAAGCTGAGACACAAAGAGGTTTAGTGAGCTTCCCATGGCCACACAGCCAGGAATGGACCATAGGTACCAGGCCCTGGTACCTGGAGAAGAGGTGGGGGCGAGCCCAGGGTGGGGGCAGGTGGTGTTCAGAACCCCATCCCCCTCTTCTGCCCCCCAGGAGATGAACACCTTGCGTACTCAGTGTGGACACCTGTATGCCTACGACTGGATTAGTATCCCACTGGTGTATACACAGGTGAGGACTAGGCTGGTGAGGCTGCCCTTTTGGGAAACTGAGGCTAGAAGGACCAAGGAAGCAGCTGGGGTGGGAAGGGCTCACCTAGAGGCTAAGTGGCTCCCCTGGGAGTTGGGTCCACACTTTGAAGTTGGGTCTGGACTTTGAAGTGCCAAGTTCTAAGAGTCCAGGCTCCTGCCTGGCCCAGTCCAGTAGAGGCAATGTGATTATCCCCATATTAAAGAGAGGTTGGCCGGGTGCAGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAAGCTGAGGCAGGTGGATCACCTGAGGTCAGGAGTTCGAGACCAGCCTGGCCAACATGGTGAAACCCCATCTCTACTGAAAATACAGAATTAGCTGTGTGGTGGTGCACGCCTGTAATCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATCGCTTGAACCCGGGAGGTGGAGGTTGCAG
|
GGCTGCAGTGAGTCATGACTGTGCCACTGCCCTTGAGCCTGGGTAACAGAGCAAGACCCTATCTCAAAACAAACAAACAAACAAACAAACAAACAAAAACCAATAAACCAAAAACATTTATCTAAACAATAAAATAAAGGACAGATATAATCACCGAATATATGATAGCATTTTAAATTGAAAAAGCACTAATGACTACAATGGATTATAAAACATCAAATACATAAAATTCTTAAGTTCCTCCTAATACCAAATACAAAGCACATTGGTCTTTGGTTTTTACTTGGGCACTAATGCATGCTGAAAAAGAGTCAGACTTCATTTTTTAGAGTAGTTTTAGGTTCACAGCAAAATTGAGCAGAAGGTAGAGTTCTCATGTGTCTCTTTGCTCCTCCCCCTGCCCCCAGCCTCCCCACTATCAACACCCCCACACTACAGTGGTAGATTTATTACAATCCCTGAACCCACAGTGACACATCACTATCACCCAAAGTTCATAGCGTACAGCAGGGTTCACTCTTGGGCTGTACATTCCATGGGTTTGGATAAATGTGTAATGATGTCTCCACCATCACAGCATCAGGCAGAGTAGTTTCACTGCTCTAACAAAATCCTCTGCCTATTCACCCCTCTCATTAAAGCCAAACACTCTGTTTCTTTTTTTCTTTTTAGAGACAGTGTCTCGCTCTGTCACCCAGGCTGAAGTGCAATGGCAATCACAGCCCATTGCAGCCTCCAACTCCTGGGCTGAAGTGATCCTCCTATCTCAGCCTCCAGTGGCTACGACTGCAGGCATACGGCAACGGCACCCAACTAATTTTTTGTAGAGATAGGGTCTTGCTATGTTGCCCAGGCTGGTCTTGAACTCTTGGTCCTGCCTTAGCCTCCCAGAGCTCTGGGATTACAGGCGTGAACCACCGTGCCCGTCCCAAACACTCTGTTTCGACCTGCTTTTAAACAACTGACCCTTGGCTGCATTCAAAGGATCAGGGTGTCTGAAACTGGCCTCTGCAGCAGGACCTTCCTTCCTACACATCTCCCAGTGGCCAGTGTGAGGATTCTCCCCACAAGAAACCACTGGAGGGGGCCTCCTCCTGTCCGGGTTTGGGGCTGTACAAGGAGCATCATGGACCTGGCTCAGGCCTCAGGAGGGGCCCTGGGCTGGGGAAAATGTGGGATAGCATCGAGGCAGTCCCACTCCTACCCAGGGCCGGGCTAGACCTGGGGACAGTCTCAGCCATCTCCTCGCTGCGTCCACACAATTCCACCCCCACCCCCACCCCCAGGCTGGCCCTCACGGAAGAACAACAGCTGATGTTTGAGAAACTGACTCTGTATTGCGACAGCTACATCCAGCTCATCCCCATTTCCTTCGTGCTGGGTGAGTTCCCCCTTCTGGCTGTTCCGGGTCCCTGTGGCCGCCCAGGCTCCAGACAGGCCAGGGGAGGATCACGAGGAGCTGCGGCAAGGGGCTGGGGAGGGGGCGGGGGAACGCCAGCGGCAGGTCGGCGCCTCTCTGTAGGGAAAGGTGCGGACTGCAGCCAGTGAAACTGAAGTTAGACGTTAGGTAAGACGTCCTGCCGTTAGCAATGAAAACCCCATTTTCTGAGGGAAGCGCTGACATCATGGTCCCTGGAGCCCCTGCGCGGGAGGGGAGGGGGTCTGGCGGATTTCTGGGACCAGCAGGGGGACCCCCGGGTGACAGAACCCTTGGGGCTCTCGCGCCTCCATGCGAGGCTCTGCCTGCCTCTCGCTCCCGAGCGCCTTCCAGGAGGGCTGGGGGCTAGGCCCGCTCGCAGCAGAAAGCTGGAGGAGCCGAGGCATCGCCGGGCGCTGGGCCCTGGGCTCTGGCCGCAGCCTGGCCCCTCGCCCCTCGCCCCCCGCCCCTCCTGCCCAGGCTTCTACGTGACGCTGGTCGTGACCCGCTGGTGGAACCAGTACGAGAACCTGCCGTGGCCCGACCGCCTCATGAGCCTGGTGTCGGGCTTCGTCGAAGGCAAGGACGAGCAAGGCCGGCTGCTGCGGCGCACGCTCATCCGCTACGCCAAGCTGGGCAACGTGCTCATCCTGCGCAGCGTCAGCACCGCAGTCTACAAGCGCTTCCCCAGCGCCCAGCACCTGGTGCAAGCAGGTGGGCGGACCGGGAGCAACGGGGAGGCACCGGGCAGAGCCAGGGGCCGAGATGGGCGCGGCAGGAATGGAAGATGGGTGGAGCCAAAGTCCCCCGGACTCGGGGGATTGGGTGGAGCCAGGAGTGGGGTGTAGTCAAGATTTGGGGGTCCAATTGGGCGGGACAGAGTCGGGTGTCTGAAGGTGGGGCGAGGCCAGGAGCCCACCCTCCGAGAGTAGGAGTCTGAGGCAGGGCTAAGGACCCTTGAGGGATAATGGAAAGAAGGGTGACGGCTTGGGAACTGGTGAGGTACTAGGGTCTACTTCCCTCTGCCCTTGCCCCTCTTGATCTCCGGTTTCCACTCTGGAGGTATGGGACATTGGTCTCTGACACCCCCTCAGCCTGGCCTGACCTGGTCCTGGTTAATAAGACAGACCCAGGCTAGGCGTGGTGGCTGTCGCCTGTAATCCCAGTGCTTTAGGAGGCAAAGGTGGGAAGATCGCTTGAGCCCAGCTGTTTGAGACGCCCCTGAGCAACATAGCGAGACCCCCATCTCTACAAAAACATTAAAAATTAGCAGGGCATGGTGGCGTGTGCCTGCAGTCTGAGGCTGAGTATCGGGAGGCTGAGGCAGGAGGATCACTTGAGCCCAGCAGTTCCAGGCTGCAGTGCGCTAAGATCGCACCGCTGCACTCCAACCTCGGTGACAGAGCCAGACCCTTTCTCTGGAAATAAATAAATACCCTGCCCACATGCTCAGCCCAGAACAGCACCTAGTAGGTGCTCAGAAATTTTTTTGTTGTTGAAAGAAAGAGGATGGCAAAGGAGTGCTGAGGTTCCTATAGGTCAGCAGGTGCCGGCCATCCCTTCTGCAGGTTCTCCCACCCACCGCCTTCTTCACTCCACTCTGCAGGCTTTATGACTCCGGCAGAACACAAGCAGTTGGAGAAACTGAGCCTACCACACAACATGTTCTGGGTGCCCTGGGTGTGGTTTGCCAACCTGTCAATGAAGGCGTGGCTTGGAGGTCGAATCCGGGACCCTATCCTGCTCCAGAGCCTGCTGAACGTGAGCCCACTGTACAGACAGGGCTGCCGCAGAGTGGGAAGGGCTGTGGTCCACAGGAAACAAGGTTTCCTACAAAGAGAAGCCTTGGGCCCCTGAGGGTCTTCCGAGAGCCTGAGGTGGGGTTGCAGAATCTTTTCCAACAGCAATCCACAGCCCGAGGTGGTCCCTTCTCAGAGGCCCCTCCCTCTTCTCCAAGTCTGTGAGGTCCTGGTTCCCTTTTGATAGATGAGGAAGCTGAGACACAAAGAGGTTTAGTGAGCTTCCCATGGCCACACAGCCAGGAATGGACCATAGGTACCAGGCCCTGGTACCTGGAGAAGAGGTGGGGGCGAGCCCAGGGTGGGGGCAGGTGGTGTTCAGAACCCCATCCCCCTCTTCTGCCCCCCAGGAGATGAACACCTTGCGTACTCAGTGTGGACACCTGTATGCCTACGACTGGATTAGTATCCCACTGGTGTATACACAGGTGAGGACTAGGCTGGTGAGGCTGCCCTTTTGGGAAACTGAGGCTAGAAGGACCAAGGAAGCAGCTGGGGTGGGAAGGGCTCACCTAGAGGCTAAGTGGCTCCCCTGGGAGTTGGGTCCACACTTTGAAGTTGGGTCTGGACTTTGAAGTGCCAAGTTCTAAGAGTCCAGGCTCCTGCCTGGCCCAGTCCAGTAGAGGCAATGTGATTATCCCCATATTAAAGAGAGGTTGGCCGGGTGCAGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAAGCTGAGGCAGGTGGATCACCTGAGGTCAGGAGTTCGAGACCAGCCTGGCCAACATGGTGAAACCCCATCTCTACTGAAAATACAGAATTAGCTGTGTGGTGGTGCACGCCTGTAATCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATCGCTTGAACCCGGGAGGTGGAGGTTGCAG
|
Task1_train_15910
|
Gene BEST1 (bestrophin 1), found on Chromosome 11, is impacted by this variant. What is the biological outcome — benign or pathogenic?
|
Pathogenic; not provided
|
GCCCTTGAGCCTGGGTAACAGAGCAAGACCCTATCTCAAAACAAACAAACAAACAAACAAACAAACAAAAACCAATAAACCAAAAACATTTATCTAAACAATAAAATAAAGGACAGATATAATCACCGAATATATGATAGCATTTTAAATTGAAAAAGCACTAATGACTACAATGGATTATAAAACATCAAATACATAAAATTCTTAAGTTCCTCCTAATACCAAATACAAAGCACATTGGTCTTTGGTTTTTACTTGGGCACTAATGCATGCTGAAAAAGAGTCAGACTTCATTTTTTAGAGTAGTTTTAGGTTCACAGCAAAATTGAGCAGAAGGTAGAGTTCTCATGTGTCTCTTTGCTCCTCCCCCTGCCCCCAGCCTCCCCACTATCAACACCCCCACACTACAGTGGTAGATTTATTACAATCCCTGAACCCACAGTGACACATCACTATCACCCAAAGTTCATAGCGTACAGCAGGGTTCACTCTTGGGCTGTACATTCCATGGGTTTGGATAAATGTGTAATGATGTCTCCACCATCACAGCATCAGGCAGAGTAGTTTCACTGCTCTAACAAAATCCTCTGCCTATTCACCCCTCTCATTAAAGCCAAACACTCTGTTTCTTTTTTTCTTTTTAGAGACAGTGTCTCGCTCTGTCACCCAGGCTGAAGTGCAATGGCAATCACAGCCCATTGCAGCCTCCAACTCCTGGGCTGAAGTGATCCTCCTATCTCAGCCTCCAGTGGCTACGACTGCAGGCATACGGCAACGGCACCCAACTAATTTTTTGTAGAGATAGGGTCTTGCTATGTTGCCCAGGCTGGTCTTGAACTCTTGGTCCTGCCTTAGCCTCCCAGAGCTCTGGGATTACAGGCGTGAACCACCGTGCCCGTCCCAAACACTCTGTTTCGACCTGCTTTTAAACAACTGACCCTTGGCTGCATTCAAAGGATCAGGGTGTCTGAAACTGGCCTCTGCAGCAGGACCTTCCTTCCTACACATCTCCCAGTGGCCAGTGTGAGGATTCTCCCCACAAGAAACCACTGGAGGGGGCCTCCTCCTGTCCGGGTTTGGGGCTGTACAAGGAGCATCATGGACCTGGCTCAGGCCTCAGGAGGGGCCCTGGGCTGGGGAAAATGTGGGATAGCATCGAGGCAGTCCCACTCCTACCCAGGGCCGGGCTAGACCTGGGGACAGTCTCAGCCATCTCCTCGCTGCGTCCACACAATTCCACCCCCACCCCCACCCCCAGGCTGGCCCTCACGGAAGAACAACAGCTGATGTTTGAGAAACTGACTCTGTATTGCGACAGCTACATCCAGCTCATCCCCATTTCCTTCGTGCTGGGTGAGTTCCCCCTTCTGGCTGTTCCGGGTCCCTGTGGCCGCCCAGGCTCCAGACAGGCCAGGGGAGGATCACGAGGAGCTGCGGCAAGGGGCTGGGGAGGGGGCGGGGGAACGCCAGCGGCAGGTCGGCGCCTCTCTGTAGGGAAAGGTGCGGACTGCAGCCAGTGAAACTGAAGTTAGACGTTAGGTAAGACGTCCTGCCGTTAGCAATGAAAACCCCATTTTCTGAGGGAAGCGCTGACATCATGGTCCCTGGAGCCCCTGCGCGGGAGGGGAGGGGGTCTGGCGGATTTCTGGGACCAGCAGGGGGACCCCCGGGTGACAGAACCCTTGGGGCTCTCGCGCCTCCATGCGAGGCTCTGCCTGCCTCTCGCTCCCGAGCGCCTTCCAGGAGGGCTGGGGGCTAGGCCCGCTCGCAGCAGAAAGCTGGAGGAGCCGAGGCATCGCCGGGCGCTGGGCCCTGGGCTCTGGCCGCAGCCTGGCCCCTCGCCCCTCGCCCCCCGCCCCTCCTGCCCAGGCTTCTACGTGACGCTGGTCGTGACCCGCTGGTGGAACCAGTACGAGAACCTGCCGTGGCCCGACCGCCTCATGAGCCTGGTGTCGGGCTTCGTCGAAGGCAAGGACGAGCAAGGCCGGCTGCTGCGGCGCACGCTCATCCGCTACGCCAACCTGGGCAACGTGCTCATCCTGCGCAGCGTCAGCACCGCAGTCTACAAGCGCTTCCCCAGCGCCCAGCACCTGGTGCAAGCAGGTGGGCGGACCGGGAGCAACGGGGAGGCACCGGGCAGAGCCAGGGGCCGAGATGGGCGCGGCAGGAATGGAAGATGGGTGGAGCCAAAGTCCCCCGGACTCGGGGGATTGGGTGGAGCCAGGAGTGGGGTGTAGTCAAGATTTGGGGGTCCAATTGGGCGGGACAGAGTCGGGTGTCTGAAGGTGGGGCGAGGCCAGGAGCCCACCCTCCGAGAGTAGGAGTCTGAGGCAGGGCTAAGGACCCTTGAGGGATAATGGAAAGAAGGGTGACGGCTTGGGAACTGGTGAGGTACTAGGGTCTACTTCCCTCTGCCCTTGCCCCTCTTGATCTCCGGTTTCCACTCTGGAGGTATGGGACATTGGTCTCTGACACCCCCTCAGCCTGGCCTGACCTGGTCCTGGTTAATAAGACAGACCCAGGCTAGGCGTGGTGGCTGTCGCCTGTAATCCCAGTGCTTTAGGAGGCAAAGGTGGGAAGATCGCTTGAGCCCAGCTGTTTGAGACGCCCCTGAGCAACATAGCGAGACCCCCATCTCTACAAAAACATTAAAAATTAGCAGGGCATGGTGGCGTGTGCCTGCAGTCTGAGGCTGAGTATCGGGAGGCTGAGGCAGGAGGATCACTTGAGCCCAGCAGTTCCAGGCTGCAGTGCGCTAAGATCGCACCGCTGCACTCCAACCTCGGTGACAGAGCCAGACCCTTTCTCTGGAAATAAATAAATACCCTGCCCACATGCTCAGCCCAGAACAGCACCTAGTAGGTGCTCAGAAATTTTTTTGTTGTTGAAAGAAAGAGGATGGCAAAGGAGTGCTGAGGTTCCTATAGGTCAGCAGGTGCCGGCCATCCCTTCTGCAGGTTCTCCCACCCACCGCCTTCTTCACTCCACTCTGCAGGCTTTATGACTCCGGCAGAACACAAGCAGTTGGAGAAACTGAGCCTACCACACAACATGTTCTGGGTGCCCTGGGTGTGGTTTGCCAACCTGTCAATGAAGGCGTGGCTTGGAGGTCGAATCCGGGACCCTATCCTGCTCCAGAGCCTGCTGAACGTGAGCCCACTGTACAGACAGGGCTGCCGCAGAGTGGGAAGGGCTGTGGTCCACAGGAAACAAGGTTTCCTACAAAGAGAAGCCTTGGGCCCCTGAGGGTCTTCCGAGAGCCTGAGGTGGGGTTGCAGAATCTTTTCCAACAGCAATCCACAGCCCGAGGTGGTCCCTTCTCAGAGGCCCCTCCCTCTTCTCCAAGTCTGTGAGGTCCTGGTTCCCTTTTGATAGATGAGGAAGCTGAGACACAAAGAGGTTTAGTGAGCTTCCCATGGCCACACAGCCAGGAATGGACCATAGGTACCAGGCCCTGGTACCTGGAGAAGAGGTGGGGGCGAGCCCAGGGTGGGGGCAGGTGGTGTTCAGAACCCCATCCCCCTCTTCTGCCCCCCAGGAGATGAACACCTTGCGTACTCAGTGTGGACACCTGTATGCCTACGACTGGATTAGTATCCCACTGGTGTATACACAGGTGAGGACTAGGCTGGTGAGGCTGCCCTTTTGGGAAACTGAGGCTAGAAGGACCAAGGAAGCAGCTGGGGTGGGAAGGGCTCACCTAGAGGCTAAGTGGCTCCCCTGGGAGTTGGGTCCACACTTTGAAGTTGGGTCTGGACTTTGAAGTGCCAAGTTCTAAGAGTCCAGGCTCCTGCCTGGCCCAGTCCAGTAGAGGCAATGTGATTATCCCCATATTAAAGAGAGGTTGGCCGGGTGCAGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAAGCTGAGGCAGGTGGATCACCTGAGGTCAGGAGTTCGAGACCAGCCTGGCCAACATGGTGAAACCCCATCTCTACTGAAAATACAGAATTAGCTGTGTGGTGGTGCACGCCTGTAATCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATCGCTTGAACCCGGGAGGTGGAGGTTGCAGTGAGCTGAGATCATGCCACTGCACTCCA
|
GCCCTTGAGCCTGGGTAACAGAGCAAGACCCTATCTCAAAACAAACAAACAAACAAACAAACAAACAAAAACCAATAAACCAAAAACATTTATCTAAACAATAAAATAAAGGACAGATATAATCACCGAATATATGATAGCATTTTAAATTGAAAAAGCACTAATGACTACAATGGATTATAAAACATCAAATACATAAAATTCTTAAGTTCCTCCTAATACCAAATACAAAGCACATTGGTCTTTGGTTTTTACTTGGGCACTAATGCATGCTGAAAAAGAGTCAGACTTCATTTTTTAGAGTAGTTTTAGGTTCACAGCAAAATTGAGCAGAAGGTAGAGTTCTCATGTGTCTCTTTGCTCCTCCCCCTGCCCCCAGCCTCCCCACTATCAACACCCCCACACTACAGTGGTAGATTTATTACAATCCCTGAACCCACAGTGACACATCACTATCACCCAAAGTTCATAGCGTACAGCAGGGTTCACTCTTGGGCTGTACATTCCATGGGTTTGGATAAATGTGTAATGATGTCTCCACCATCACAGCATCAGGCAGAGTAGTTTCACTGCTCTAACAAAATCCTCTGCCTATTCACCCCTCTCATTAAAGCCAAACACTCTGTTTCTTTTTTTCTTTTTAGAGACAGTGTCTCGCTCTGTCACCCAGGCTGAAGTGCAATGGCAATCACAGCCCATTGCAGCCTCCAACTCCTGGGCTGAAGTGATCCTCCTATCTCAGCCTCCAGTGGCTACGACTGCAGGCATACGGCAACGGCACCCAACTAATTTTTTGTAGAGATAGGGTCTTGCTATGTTGCCCAGGCTGGTCTTGAACTCTTGGTCCTGCCTTAGCCTCCCAGAGCTCTGGGATTACAGGCGTGAACCACCGTGCCCGTCCCAAACACTCTGTTTCGACCTGCTTTTAAACAACTGACCCTTGGCTGCATTCAAAGGATCAGGGTGTCTGAAACTGGCCTCTGCAGCAGGACCTTCCTTCCTACACATCTCCCAGTGGCCAGTGTGAGGATTCTCCCCACAAGAAACCACTGGAGGGGGCCTCCTCCTGTCCGGGTTTGGGGCTGTACAAGGAGCATCATGGACCTGGCTCAGGCCTCAGGAGGGGCCCTGGGCTGGGGAAAATGTGGGATAGCATCGAGGCAGTCCCACTCCTACCCAGGGCCGGGCTAGACCTGGGGACAGTCTCAGCCATCTCCTCGCTGCGTCCACACAATTCCACCCCCACCCCCACCCCCAGGCTGGCCCTCACGGAAGAACAACAGCTGATGTTTGAGAAACTGACTCTGTATTGCGACAGCTACATCCAGCTCATCCCCATTTCCTTCGTGCTGGGTGAGTTCCCCCTTCTGGCTGTTCCGGGTCCCTGTGGCCGCCCAGGCTCCAGACAGGCCAGGGGAGGATCACGAGGAGCTGCGGCAAGGGGCTGGGGAGGGGGCGGGGGAACGCCAGCGGCAGGTCGGCGCCTCTCTGTAGGGAAAGGTGCGGACTGCAGCCAGTGAAACTGAAGTTAGACGTTAGGTAAGACGTCCTGCCGTTAGCAATGAAAACCCCATTTTCTGAGGGAAGCGCTGACATCATGGTCCCTGGAGCCCCTGCGCGGGAGGGGAGGGGGTCTGGCGGATTTCTGGGACCAGCAGGGGGACCCCCGGGTGACAGAACCCTTGGGGCTCTCGCGCCTCCATGCGAGGCTCTGCCTGCCTCTCGCTCCCGAGCGCCTTCCAGGAGGGCTGGGGGCTAGGCCCGCTCGCAGCAGAAAGCTGGAGGAGCCGAGGCATCGCCGGGCGCTGGGCCCTGGGCTCTGGCCGCAGCCTGGCCCCTCGCCCCTCGCCCCCCGCCCCTCCTGCCCAGGCTTCTACGTGACGCTGGTCGTGACCCGCTGGTGGAACCAGTACGAGAACCTGCCGTGGCCCGACCGCCTCATGAGCCTGGTGTCGGGCTTCGTCGAAGGCAAGGACGAGCAAGGCCGGCTGCTGCGGCGCACGCTCATCCGCTACGCCAACCTGGGCAACGTGCTCATCCTGCGCAGCTTCAGCACCGCAGTCTACAAGCGCTTCCCCAGCGCCCAGCACCTGGTGCAAGCAGGTGGGCGGACCGGGAGCAACGGGGAGGCACCGGGCAGAGCCAGGGGCCGAGATGGGCGCGGCAGGAATGGAAGATGGGTGGAGCCAAAGTCCCCCGGACTCGGGGGATTGGGTGGAGCCAGGAGTGGGGTGTAGTCAAGATTTGGGGGTCCAATTGGGCGGGACAGAGTCGGGTGTCTGAAGGTGGGGCGAGGCCAGGAGCCCACCCTCCGAGAGTAGGAGTCTGAGGCAGGGCTAAGGACCCTTGAGGGATAATGGAAAGAAGGGTGACGGCTTGGGAACTGGTGAGGTACTAGGGTCTACTTCCCTCTGCCCTTGCCCCTCTTGATCTCCGGTTTCCACTCTGGAGGTATGGGACATTGGTCTCTGACACCCCCTCAGCCTGGCCTGACCTGGTCCTGGTTAATAAGACAGACCCAGGCTAGGCGTGGTGGCTGTCGCCTGTAATCCCAGTGCTTTAGGAGGCAAAGGTGGGAAGATCGCTTGAGCCCAGCTGTTTGAGACGCCCCTGAGCAACATAGCGAGACCCCCATCTCTACAAAAACATTAAAAATTAGCAGGGCATGGTGGCGTGTGCCTGCAGTCTGAGGCTGAGTATCGGGAGGCTGAGGCAGGAGGATCACTTGAGCCCAGCAGTTCCAGGCTGCAGTGCGCTAAGATCGCACCGCTGCACTCCAACCTCGGTGACAGAGCCAGACCCTTTCTCTGGAAATAAATAAATACCCTGCCCACATGCTCAGCCCAGAACAGCACCTAGTAGGTGCTCAGAAATTTTTTTGTTGTTGAAAGAAAGAGGATGGCAAAGGAGTGCTGAGGTTCCTATAGGTCAGCAGGTGCCGGCCATCCCTTCTGCAGGTTCTCCCACCCACCGCCTTCTTCACTCCACTCTGCAGGCTTTATGACTCCGGCAGAACACAAGCAGTTGGAGAAACTGAGCCTACCACACAACATGTTCTGGGTGCCCTGGGTGTGGTTTGCCAACCTGTCAATGAAGGCGTGGCTTGGAGGTCGAATCCGGGACCCTATCCTGCTCCAGAGCCTGCTGAACGTGAGCCCACTGTACAGACAGGGCTGCCGCAGAGTGGGAAGGGCTGTGGTCCACAGGAAACAAGGTTTCCTACAAAGAGAAGCCTTGGGCCCCTGAGGGTCTTCCGAGAGCCTGAGGTGGGGTTGCAGAATCTTTTCCAACAGCAATCCACAGCCCGAGGTGGTCCCTTCTCAGAGGCCCCTCCCTCTTCTCCAAGTCTGTGAGGTCCTGGTTCCCTTTTGATAGATGAGGAAGCTGAGACACAAAGAGGTTTAGTGAGCTTCCCATGGCCACACAGCCAGGAATGGACCATAGGTACCAGGCCCTGGTACCTGGAGAAGAGGTGGGGGCGAGCCCAGGGTGGGGGCAGGTGGTGTTCAGAACCCCATCCCCCTCTTCTGCCCCCCAGGAGATGAACACCTTGCGTACTCAGTGTGGACACCTGTATGCCTACGACTGGATTAGTATCCCACTGGTGTATACACAGGTGAGGACTAGGCTGGTGAGGCTGCCCTTTTGGGAAACTGAGGCTAGAAGGACCAAGGAAGCAGCTGGGGTGGGAAGGGCTCACCTAGAGGCTAAGTGGCTCCCCTGGGAGTTGGGTCCACACTTTGAAGTTGGGTCTGGACTTTGAAGTGCCAAGTTCTAAGAGTCCAGGCTCCTGCCTGGCCCAGTCCAGTAGAGGCAATGTGATTATCCCCATATTAAAGAGAGGTTGGCCGGGTGCAGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAAGCTGAGGCAGGTGGATCACCTGAGGTCAGGAGTTCGAGACCAGCCTGGCCAACATGGTGAAACCCCATCTCTACTGAAAATACAGAATTAGCTGTGTGGTGGTGCACGCCTGTAATCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATCGCTTGAACCCGGGAGGTGGAGGTTGCAGTGAGCTGAGATCATGCCACTGCACTCCA
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Task1_train_15911
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Gene BEST1 (bestrophin 1), found on Chromosome 11, is impacted by this variant. What is the biological outcome — benign or pathogenic?
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Pathogenic; not provided
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ACCCTATCTCAAAACAAACAAACAAACAAACAAACAAACAAAAACCAATAAACCAAAAACATTTATCTAAACAATAAAATAAAGGACAGATATAATCACCGAATATATGATAGCATTTTAAATTGAAAAAGCACTAATGACTACAATGGATTATAAAACATCAAATACATAAAATTCTTAAGTTCCTCCTAATACCAAATACAAAGCACATTGGTCTTTGGTTTTTACTTGGGCACTAATGCATGCTGAAAAAGAGTCAGACTTCATTTTTTAGAGTAGTTTTAGGTTCACAGCAAAATTGAGCAGAAGGTAGAGTTCTCATGTGTCTCTTTGCTCCTCCCCCTGCCCCCAGCCTCCCCACTATCAACACCCCCACACTACAGTGGTAGATTTATTACAATCCCTGAACCCACAGTGACACATCACTATCACCCAAAGTTCATAGCGTACAGCAGGGTTCACTCTTGGGCTGTACATTCCATGGGTTTGGATAAATGTGTAATGATGTCTCCACCATCACAGCATCAGGCAGAGTAGTTTCACTGCTCTAACAAAATCCTCTGCCTATTCACCCCTCTCATTAAAGCCAAACACTCTGTTTCTTTTTTTCTTTTTAGAGACAGTGTCTCGCTCTGTCACCCAGGCTGAAGTGCAATGGCAATCACAGCCCATTGCAGCCTCCAACTCCTGGGCTGAAGTGATCCTCCTATCTCAGCCTCCAGTGGCTACGACTGCAGGCATACGGCAACGGCACCCAACTAATTTTTTGTAGAGATAGGGTCTTGCTATGTTGCCCAGGCTGGTCTTGAACTCTTGGTCCTGCCTTAGCCTCCCAGAGCTCTGGGATTACAGGCGTGAACCACCGTGCCCGTCCCAAACACTCTGTTTCGACCTGCTTTTAAACAACTGACCCTTGGCTGCATTCAAAGGATCAGGGTGTCTGAAACTGGCCTCTGCAGCAGGACCTTCCTTCCTACACATCTCCCAGTGGCCAGTGTGAGGATTCTCCCCACAAGAAACCACTGGAGGGGGCCTCCTCCTGTCCGGGTTTGGGGCTGTACAAGGAGCATCATGGACCTGGCTCAGGCCTCAGGAGGGGCCCTGGGCTGGGGAAAATGTGGGATAGCATCGAGGCAGTCCCACTCCTACCCAGGGCCGGGCTAGACCTGGGGACAGTCTCAGCCATCTCCTCGCTGCGTCCACACAATTCCACCCCCACCCCCACCCCCAGGCTGGCCCTCACGGAAGAACAACAGCTGATGTTTGAGAAACTGACTCTGTATTGCGACAGCTACATCCAGCTCATCCCCATTTCCTTCGTGCTGGGTGAGTTCCCCCTTCTGGCTGTTCCGGGTCCCTGTGGCCGCCCAGGCTCCAGACAGGCCAGGGGAGGATCACGAGGAGCTGCGGCAAGGGGCTGGGGAGGGGGCGGGGGAACGCCAGCGGCAGGTCGGCGCCTCTCTGTAGGGAAAGGTGCGGACTGCAGCCAGTGAAACTGAAGTTAGACGTTAGGTAAGACGTCCTGCCGTTAGCAATGAAAACCCCATTTTCTGAGGGAAGCGCTGACATCATGGTCCCTGGAGCCCCTGCGCGGGAGGGGAGGGGGTCTGGCGGATTTCTGGGACCAGCAGGGGGACCCCCGGGTGACAGAACCCTTGGGGCTCTCGCGCCTCCATGCGAGGCTCTGCCTGCCTCTCGCTCCCGAGCGCCTTCCAGGAGGGCTGGGGGCTAGGCCCGCTCGCAGCAGAAAGCTGGAGGAGCCGAGGCATCGCCGGGCGCTGGGCCCTGGGCTCTGGCCGCAGCCTGGCCCCTCGCCCCTCGCCCCCCGCCCCTCCTGCCCAGGCTTCTACGTGACGCTGGTCGTGACCCGCTGGTGGAACCAGTACGAGAACCTGCCGTGGCCCGACCGCCTCATGAGCCTGGTGTCGGGCTTCGTCGAAGGCAAGGACGAGCAAGGCCGGCTGCTGCGGCGCACGCTCATCCGCTACGCCAACCTGGGCAACGTGCTCATCCTGCGCAGCGTCAGCACCGCAGTCTACAAGCGCTTCCCCAGCGCCCAGCACCTGGTGCAAGCAGGTGGGCGGACCGGGAGCAACGGGGAGGCACCGGGCAGAGCCAGGGGCCGAGATGGGCGCGGCAGGAATGGAAGATGGGTGGAGCCAAAGTCCCCCGGACTCGGGGGATTGGGTGGAGCCAGGAGTGGGGTGTAGTCAAGATTTGGGGGTCCAATTGGGCGGGACAGAGTCGGGTGTCTGAAGGTGGGGCGAGGCCAGGAGCCCACCCTCCGAGAGTAGGAGTCTGAGGCAGGGCTAAGGACCCTTGAGGGATAATGGAAAGAAGGGTGACGGCTTGGGAACTGGTGAGGTACTAGGGTCTACTTCCCTCTGCCCTTGCCCCTCTTGATCTCCGGTTTCCACTCTGGAGGTATGGGACATTGGTCTCTGACACCCCCTCAGCCTGGCCTGACCTGGTCCTGGTTAATAAGACAGACCCAGGCTAGGCGTGGTGGCTGTCGCCTGTAATCCCAGTGCTTTAGGAGGCAAAGGTGGGAAGATCGCTTGAGCCCAGCTGTTTGAGACGCCCCTGAGCAACATAGCGAGACCCCCATCTCTACAAAAACATTAAAAATTAGCAGGGCATGGTGGCGTGTGCCTGCAGTCTGAGGCTGAGTATCGGGAGGCTGAGGCAGGAGGATCACTTGAGCCCAGCAGTTCCAGGCTGCAGTGCGCTAAGATCGCACCGCTGCACTCCAACCTCGGTGACAGAGCCAGACCCTTTCTCTGGAAATAAATAAATACCCTGCCCACATGCTCAGCCCAGAACAGCACCTAGTAGGTGCTCAGAAATTTTTTTGTTGTTGAAAGAAAGAGGATGGCAAAGGAGTGCTGAGGTTCCTATAGGTCAGCAGGTGCCGGCCATCCCTTCTGCAGGTTCTCCCACCCACCGCCTTCTTCACTCCACTCTGCAGGCTTTATGACTCCGGCAGAACACAAGCAGTTGGAGAAACTGAGCCTACCACACAACATGTTCTGGGTGCCCTGGGTGTGGTTTGCCAACCTGTCAATGAAGGCGTGGCTTGGAGGTCGAATCCGGGACCCTATCCTGCTCCAGAGCCTGCTGAACGTGAGCCCACTGTACAGACAGGGCTGCCGCAGAGTGGGAAGGGCTGTGGTCCACAGGAAACAAGGTTTCCTACAAAGAGAAGCCTTGGGCCCCTGAGGGTCTTCCGAGAGCCTGAGGTGGGGTTGCAGAATCTTTTCCAACAGCAATCCACAGCCCGAGGTGGTCCCTTCTCAGAGGCCCCTCCCTCTTCTCCAAGTCTGTGAGGTCCTGGTTCCCTTTTGATAGATGAGGAAGCTGAGACACAAAGAGGTTTAGTGAGCTTCCCATGGCCACACAGCCAGGAATGGACCATAGGTACCAGGCCCTGGTACCTGGAGAAGAGGTGGGGGCGAGCCCAGGGTGGGGGCAGGTGGTGTTCAGAACCCCATCCCCCTCTTCTGCCCCCCAGGAGATGAACACCTTGCGTACTCAGTGTGGACACCTGTATGCCTACGACTGGATTAGTATCCCACTGGTGTATACACAGGTGAGGACTAGGCTGGTGAGGCTGCCCTTTTGGGAAACTGAGGCTAGAAGGACCAAGGAAGCAGCTGGGGTGGGAAGGGCTCACCTAGAGGCTAAGTGGCTCCCCTGGGAGTTGGGTCCACACTTTGAAGTTGGGTCTGGACTTTGAAGTGCCAAGTTCTAAGAGTCCAGGCTCCTGCCTGGCCCAGTCCAGTAGAGGCAATGTGATTATCCCCATATTAAAGAGAGGTTGGCCGGGTGCAGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAAGCTGAGGCAGGTGGATCACCTGAGGTCAGGAGTTCGAGACCAGCCTGGCCAACATGGTGAAACCCCATCTCTACTGAAAATACAGAATTAGCTGTGTGGTGGTGCACGCCTGTAATCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATCGCTTGAACCCGGGAGGTGGAGGTTGCAGTGAGCTGAGATCATGCCACTGCACTCCAGCCTGGGCGACACAGCAAGACTCTGTC
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ACCCTATCTCAAAACAAACAAACAAACAAACAAACAAACAAAAACCAATAAACCAAAAACATTTATCTAAACAATAAAATAAAGGACAGATATAATCACCGAATATATGATAGCATTTTAAATTGAAAAAGCACTAATGACTACAATGGATTATAAAACATCAAATACATAAAATTCTTAAGTTCCTCCTAATACCAAATACAAAGCACATTGGTCTTTGGTTTTTACTTGGGCACTAATGCATGCTGAAAAAGAGTCAGACTTCATTTTTTAGAGTAGTTTTAGGTTCACAGCAAAATTGAGCAGAAGGTAGAGTTCTCATGTGTCTCTTTGCTCCTCCCCCTGCCCCCAGCCTCCCCACTATCAACACCCCCACACTACAGTGGTAGATTTATTACAATCCCTGAACCCACAGTGACACATCACTATCACCCAAAGTTCATAGCGTACAGCAGGGTTCACTCTTGGGCTGTACATTCCATGGGTTTGGATAAATGTGTAATGATGTCTCCACCATCACAGCATCAGGCAGAGTAGTTTCACTGCTCTAACAAAATCCTCTGCCTATTCACCCCTCTCATTAAAGCCAAACACTCTGTTTCTTTTTTTCTTTTTAGAGACAGTGTCTCGCTCTGTCACCCAGGCTGAAGTGCAATGGCAATCACAGCCCATTGCAGCCTCCAACTCCTGGGCTGAAGTGATCCTCCTATCTCAGCCTCCAGTGGCTACGACTGCAGGCATACGGCAACGGCACCCAACTAATTTTTTGTAGAGATAGGGTCTTGCTATGTTGCCCAGGCTGGTCTTGAACTCTTGGTCCTGCCTTAGCCTCCCAGAGCTCTGGGATTACAGGCGTGAACCACCGTGCCCGTCCCAAACACTCTGTTTCGACCTGCTTTTAAACAACTGACCCTTGGCTGCATTCAAAGGATCAGGGTGTCTGAAACTGGCCTCTGCAGCAGGACCTTCCTTCCTACACATCTCCCAGTGGCCAGTGTGAGGATTCTCCCCACAAGAAACCACTGGAGGGGGCCTCCTCCTGTCCGGGTTTGGGGCTGTACAAGGAGCATCATGGACCTGGCTCAGGCCTCAGGAGGGGCCCTGGGCTGGGGAAAATGTGGGATAGCATCGAGGCAGTCCCACTCCTACCCAGGGCCGGGCTAGACCTGGGGACAGTCTCAGCCATCTCCTCGCTGCGTCCACACAATTCCACCCCCACCCCCACCCCCAGGCTGGCCCTCACGGAAGAACAACAGCTGATGTTTGAGAAACTGACTCTGTATTGCGACAGCTACATCCAGCTCATCCCCATTTCCTTCGTGCTGGGTGAGTTCCCCCTTCTGGCTGTTCCGGGTCCCTGTGGCCGCCCAGGCTCCAGACAGGCCAGGGGAGGATCACGAGGAGCTGCGGCAAGGGGCTGGGGAGGGGGCGGGGGAACGCCAGCGGCAGGTCGGCGCCTCTCTGTAGGGAAAGGTGCGGACTGCAGCCAGTGAAACTGAAGTTAGACGTTAGGTAAGACGTCCTGCCGTTAGCAATGAAAACCCCATTTTCTGAGGGAAGCGCTGACATCATGGTCCCTGGAGCCCCTGCGCGGGAGGGGAGGGGGTCTGGCGGATTTCTGGGACCAGCAGGGGGACCCCCGGGTGACAGAACCCTTGGGGCTCTCGCGCCTCCATGCGAGGCTCTGCCTGCCTCTCGCTCCCGAGCGCCTTCCAGGAGGGCTGGGGGCTAGGCCCGCTCGCAGCAGAAAGCTGGAGGAGCCGAGGCATCGCCGGGCGCTGGGCCCTGGGCTCTGGCCGCAGCCTGGCCCCTCGCCCCTCGCCCCCCGCCCCTCCTGCCCAGGCTTCTACGTGACGCTGGTCGTGACCCGCTGGTGGAACCAGTACGAGAACCTGCCGTGGCCCGACCGCCTCATGAGCCTGGTGTCGGGCTTCGTCGAAGGCAAGGACGAGCAAGGCCGGCTGCTGCGGCGCACGCTCATCCGCTACGCCAACCTGGGCAACGTGCTCATCCTGCGCAGCGTCAGCACCGCAGTCTACAAGCGCTTCGCCAGCGCCCAGCACCTGGTGCAAGCAGGTGGGCGGACCGGGAGCAACGGGGAGGCACCGGGCAGAGCCAGGGGCCGAGATGGGCGCGGCAGGAATGGAAGATGGGTGGAGCCAAAGTCCCCCGGACTCGGGGGATTGGGTGGAGCCAGGAGTGGGGTGTAGTCAAGATTTGGGGGTCCAATTGGGCGGGACAGAGTCGGGTGTCTGAAGGTGGGGCGAGGCCAGGAGCCCACCCTCCGAGAGTAGGAGTCTGAGGCAGGGCTAAGGACCCTTGAGGGATAATGGAAAGAAGGGTGACGGCTTGGGAACTGGTGAGGTACTAGGGTCTACTTCCCTCTGCCCTTGCCCCTCTTGATCTCCGGTTTCCACTCTGGAGGTATGGGACATTGGTCTCTGACACCCCCTCAGCCTGGCCTGACCTGGTCCTGGTTAATAAGACAGACCCAGGCTAGGCGTGGTGGCTGTCGCCTGTAATCCCAGTGCTTTAGGAGGCAAAGGTGGGAAGATCGCTTGAGCCCAGCTGTTTGAGACGCCCCTGAGCAACATAGCGAGACCCCCATCTCTACAAAAACATTAAAAATTAGCAGGGCATGGTGGCGTGTGCCTGCAGTCTGAGGCTGAGTATCGGGAGGCTGAGGCAGGAGGATCACTTGAGCCCAGCAGTTCCAGGCTGCAGTGCGCTAAGATCGCACCGCTGCACTCCAACCTCGGTGACAGAGCCAGACCCTTTCTCTGGAAATAAATAAATACCCTGCCCACATGCTCAGCCCAGAACAGCACCTAGTAGGTGCTCAGAAATTTTTTTGTTGTTGAAAGAAAGAGGATGGCAAAGGAGTGCTGAGGTTCCTATAGGTCAGCAGGTGCCGGCCATCCCTTCTGCAGGTTCTCCCACCCACCGCCTTCTTCACTCCACTCTGCAGGCTTTATGACTCCGGCAGAACACAAGCAGTTGGAGAAACTGAGCCTACCACACAACATGTTCTGGGTGCCCTGGGTGTGGTTTGCCAACCTGTCAATGAAGGCGTGGCTTGGAGGTCGAATCCGGGACCCTATCCTGCTCCAGAGCCTGCTGAACGTGAGCCCACTGTACAGACAGGGCTGCCGCAGAGTGGGAAGGGCTGTGGTCCACAGGAAACAAGGTTTCCTACAAAGAGAAGCCTTGGGCCCCTGAGGGTCTTCCGAGAGCCTGAGGTGGGGTTGCAGAATCTTTTCCAACAGCAATCCACAGCCCGAGGTGGTCCCTTCTCAGAGGCCCCTCCCTCTTCTCCAAGTCTGTGAGGTCCTGGTTCCCTTTTGATAGATGAGGAAGCTGAGACACAAAGAGGTTTAGTGAGCTTCCCATGGCCACACAGCCAGGAATGGACCATAGGTACCAGGCCCTGGTACCTGGAGAAGAGGTGGGGGCGAGCCCAGGGTGGGGGCAGGTGGTGTTCAGAACCCCATCCCCCTCTTCTGCCCCCCAGGAGATGAACACCTTGCGTACTCAGTGTGGACACCTGTATGCCTACGACTGGATTAGTATCCCACTGGTGTATACACAGGTGAGGACTAGGCTGGTGAGGCTGCCCTTTTGGGAAACTGAGGCTAGAAGGACCAAGGAAGCAGCTGGGGTGGGAAGGGCTCACCTAGAGGCTAAGTGGCTCCCCTGGGAGTTGGGTCCACACTTTGAAGTTGGGTCTGGACTTTGAAGTGCCAAGTTCTAAGAGTCCAGGCTCCTGCCTGGCCCAGTCCAGTAGAGGCAATGTGATTATCCCCATATTAAAGAGAGGTTGGCCGGGTGCAGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAAGCTGAGGCAGGTGGATCACCTGAGGTCAGGAGTTCGAGACCAGCCTGGCCAACATGGTGAAACCCCATCTCTACTGAAAATACAGAATTAGCTGTGTGGTGGTGCACGCCTGTAATCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATCGCTTGAACCCGGGAGGTGGAGGTTGCAGTGAGCTGAGATCATGCCACTGCACTCCAGCCTGGGCGACACAGCAAGACTCTGTC
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Task1_train_15912
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A variant affecting Chromosome 11, within the gene BEST1 (bestrophin 1), has been observed. Determine if it's benign or associated with disease.
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Pathogenic; Retinal dystrophy
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TCCGGGTTTGGGGCTGTACAAGGAGCATCATGGACCTGGCTCAGGCCTCAGGAGGGGCCCTGGGCTGGGGAAAATGTGGGATAGCATCGAGGCAGTCCCACTCCTACCCAGGGCCGGGCTAGACCTGGGGACAGTCTCAGCCATCTCCTCGCTGCGTCCACACAATTCCACCCCCACCCCCACCCCCAGGCTGGCCCTCACGGAAGAACAACAGCTGATGTTTGAGAAACTGACTCTGTATTGCGACAGCTACATCCAGCTCATCCCCATTTCCTTCGTGCTGGGTGAGTTCCCCCTTCTGGCTGTTCCGGGTCCCTGTGGCCGCCCAGGCTCCAGACAGGCCAGGGGAGGATCACGAGGAGCTGCGGCAAGGGGCTGGGGAGGGGGCGGGGGAACGCCAGCGGCAGGTCGGCGCCTCTCTGTAGGGAAAGGTGCGGACTGCAGCCAGTGAAACTGAAGTTAGACGTTAGGTAAGACGTCCTGCCGTTAGCAATGAAAACCCCATTTTCTGAGGGAAGCGCTGACATCATGGTCCCTGGAGCCCCTGCGCGGGAGGGGAGGGGGTCTGGCGGATTTCTGGGACCAGCAGGGGGACCCCCGGGTGACAGAACCCTTGGGGCTCTCGCGCCTCCATGCGAGGCTCTGCCTGCCTCTCGCTCCCGAGCGCCTTCCAGGAGGGCTGGGGGCTAGGCCCGCTCGCAGCAGAAAGCTGGAGGAGCCGAGGCATCGCCGGGCGCTGGGCCCTGGGCTCTGGCCGCAGCCTGGCCCCTCGCCCCTCGCCCCCCGCCCCTCCTGCCCAGGCTTCTACGTGACGCTGGTCGTGACCCGCTGGTGGAACCAGTACGAGAACCTGCCGTGGCCCGACCGCCTCATGAGCCTGGTGTCGGGCTTCGTCGAAGGCAAGGACGAGCAAGGCCGGCTGCTGCGGCGCACGCTCATCCGCTACGCCAACCTGGGCAACGTGCTCATCCTGCGCAGCGTCAGCACCGCAGTCTACAAGCGCTTCCCCAGCGCCCAGCACCTGGTGCAAGCAGGTGGGCGGACCGGGAGCAACGGGGAGGCACCGGGCAGAGCCAGGGGCCGAGATGGGCGCGGCAGGAATGGAAGATGGGTGGAGCCAAAGTCCCCCGGACTCGGGGGATTGGGTGGAGCCAGGAGTGGGGTGTAGTCAAGATTTGGGGGTCCAATTGGGCGGGACAGAGTCGGGTGTCTGAAGGTGGGGCGAGGCCAGGAGCCCACCCTCCGAGAGTAGGAGTCTGAGGCAGGGCTAAGGACCCTTGAGGGATAATGGAAAGAAGGGTGACGGCTTGGGAACTGGTGAGGTACTAGGGTCTACTTCCCTCTGCCCTTGCCCCTCTTGATCTCCGGTTTCCACTCTGGAGGTATGGGACATTGGTCTCTGACACCCCCTCAGCCTGGCCTGACCTGGTCCTGGTTAATAAGACAGACCCAGGCTAGGCGTGGTGGCTGTCGCCTGTAATCCCAGTGCTTTAGGAGGCAAAGGTGGGAAGATCGCTTGAGCCCAGCTGTTTGAGACGCCCCTGAGCAACATAGCGAGACCCCCATCTCTACAAAAACATTAAAAATTAGCAGGGCATGGTGGCGTGTGCCTGCAGTCTGAGGCTGAGTATCGGGAGGCTGAGGCAGGAGGATCACTTGAGCCCAGCAGTTCCAGGCTGCAGTGCGCTAAGATCGCACCGCTGCACTCCAACCTCGGTGACAGAGCCAGACCCTTTCTCTGGAAATAAATAAATACCCTGCCCACATGCTCAGCCCAGAACAGCACCTAGTAGGTGCTCAGAAATTTTTTTGTTGTTGAAAGAAAGAGGATGGCAAAGGAGTGCTGAGGTTCCTATAGGTCAGCAGGTGCCGGCCATCCCTTCTGCAGGTTCTCCCACCCACCGCCTTCTTCACTCCACTCTGCAGGCTTTATGACTCCGGCAGAACACAAGCAGTTGGAGAAACTGAGCCTACCACACAACATGTTCTGGGTGCCCTGGGTGTGGTTTGCCAACCTGTCAATGAAGGCGTGGCTTGGAGGTCGAATCCGGGACCCTATCCTGCTCCAGAGCCTGCTGAACGTGAGCCCACTGTACAGACAGGGCTGCCGCAGAGTGGGAAGGGCTGTGGTCCACAGGAAACAAGGTTTCCTACAAAGAGAAGCCTTGGGCCCCTGAGGGTCTTCCGAGAGCCTGAGGTGGGGTTGCAGAATCTTTTCCAACAGCAATCCACAGCCCGAGGTGGTCCCTTCTCAGAGGCCCCTCCCTCTTCTCCAAGTCTGTGAGGTCCTGGTTCCCTTTTGATAGATGAGGAAGCTGAGACACAAAGAGGTTTAGTGAGCTTCCCATGGCCACACAGCCAGGAATGGACCATAGGTACCAGGCCCTGGTACCTGGAGAAGAGGTGGGGGCGAGCCCAGGGTGGGGGCAGGTGGTGTTCAGAACCCCATCCCCCTCTTCTGCCCCCCAGGAGATGAACACCTTGCGTACTCAGTGTGGACACCTGTATGCCTACGACTGGATTAGTATCCCACTGGTGTATACACAGGTGAGGACTAGGCTGGTGAGGCTGCCCTTTTGGGAAACTGAGGCTAGAAGGACCAAGGAAGCAGCTGGGGTGGGAAGGGCTCACCTAGAGGCTAAGTGGCTCCCCTGGGAGTTGGGTCCACACTTTGAAGTTGGGTCTGGACTTTGAAGTGCCAAGTTCTAAGAGTCCAGGCTCCTGCCTGGCCCAGTCCAGTAGAGGCAATGTGATTATCCCCATATTAAAGAGAGGTTGGCCGGGTGCAGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAAGCTGAGGCAGGTGGATCACCTGAGGTCAGGAGTTCGAGACCAGCCTGGCCAACATGGTGAAACCCCATCTCTACTGAAAATACAGAATTAGCTGTGTGGTGGTGCACGCCTGTAATCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATCGCTTGAACCCGGGAGGTGGAGGTTGCAGTGAGCTGAGATCATGCCACTGCACTCCAGCCTGGGCGACACAGCAAGACTCTGTCTCAAACAAACAAACAAACAAACAAACAAAGGGGTTAACAGAGCCCCTAAGTCACATAAGTGTGCAAGTCAGAACAAGGCCTTGGTCTCCTGTCTCAGACTCCCAGCCCCTGGAGCATCCTGATTTCAGGGTTCCCACCTAGCCCTTTGCTACCACATCCTCCTCCTCCTCCCAGGTGGTGACTGTGGCGGTGTACAGCTTCTTCCTGACTTGTCTAGTTGGGCGGCAGTTTCTGAACCCAGCCAAGGCCTACCCTGGCCATGAGCTGGACCTCGTTGTGCCCGTCTTCACGTTCCTGCAGTTCTTCTTCTATGTTGGCTGGCTGAAGGTGGGCCTCTCCAGGGCCCTGCTGGGCTGGAGGCATGGCCAGAGGGGTCATGGCCAGCAGCTGCCTGAGACGAGGATGCAGTGTCAGGAAAGGAAGGTCTCACGGGTAGAAAGCAGCCAGGCGTGGTGGCGCACACCTGTAATCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATCGCTTGAACCCGGGAGGCGGAGGTTGTGGTGAGTTGAGATCGTGCCACTGCACTCCAGCCTGGGCAAAAGAATGAAACTCTATCTCAAAAACAACAACAACAACAAAACAAAGCCCTAAGGTTCAGAAGCCCCTGCCCTTTAGAAGGCAGATCGGCACCACCTCTCCTTATTCAAGATGCCTGTTGGGCTGTCTTGTTCCTCACCTCAAGTGGCTTGTCCAGGTATTCCCTCCCACCACAGCCAATACTCCGAACAGATGTTCTGAATCACACAGTTTTCTCTCCACCTCTTTATCTTTCCTTCCTTCTGTTGCCCACCCACTCTCTCTCCCTTCCTACCTTCCTTTATTTTTTGGTAATGGGGGTGTAAGTCTCTGTCTCTGCCCTTCCTGTCACTGTGACACACACACACACACACACACACACACACACATACACACACACACACACGCATTCCTATTCCTCTAAATTCCCCCTGCCCCCCCAGTTATCTTTGGTTTCTGCAGATCAAAACAAATCACACTTTTATGCTTGAAATTC
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TCCGGGTTTGGGGCTGTACAAGGAGCATCATGGACCTGGCTCAGGCCTCAGGAGGGGCCCTGGGCTGGGGAAAATGTGGGATAGCATCGAGGCAGTCCCACTCCTACCCAGGGCCGGGCTAGACCTGGGGACAGTCTCAGCCATCTCCTCGCTGCGTCCACACAATTCCACCCCCACCCCCACCCCCAGGCTGGCCCTCACGGAAGAACAACAGCTGATGTTTGAGAAACTGACTCTGTATTGCGACAGCTACATCCAGCTCATCCCCATTTCCTTCGTGCTGGGTGAGTTCCCCCTTCTGGCTGTTCCGGGTCCCTGTGGCCGCCCAGGCTCCAGACAGGCCAGGGGAGGATCACGAGGAGCTGCGGCAAGGGGCTGGGGAGGGGGCGGGGGAACGCCAGCGGCAGGTCGGCGCCTCTCTGTAGGGAAAGGTGCGGACTGCAGCCAGTGAAACTGAAGTTAGACGTTAGGTAAGACGTCCTGCCGTTAGCAATGAAAACCCCATTTTCTGAGGGAAGCGCTGACATCATGGTCCCTGGAGCCCCTGCGCGGGAGGGGAGGGGGTCTGGCGGATTTCTGGGACCAGCAGGGGGACCCCCGGGTGACAGAACCCTTGGGGCTCTCGCGCCTCCATGCGAGGCTCTGCCTGCCTCTCGCTCCCGAGCGCCTTCCAGGAGGGCTGGGGGCTAGGCCCGCTCGCAGCAGAAAGCTGGAGGAGCCGAGGCATCGCCGGGCGCTGGGCCCTGGGCTCTGGCCGCAGCCTGGCCCCTCGCCCCTCGCCCCCCGCCCCTCCTGCCCAGGCTTCTACGTGACGCTGGTCGTGACCCGCTGGTGGAACCAGTACGAGAACCTGCCGTGGCCCGACCGCCTCATGAGCCTGGTGTCGGGCTTCGTCGAAGGCAAGGACGAGCAAGGCCGGCTGCTGCGGCGCACGCTCATCCGCTACGCCAACCTGGGCAACGTGCTCATCCTGCGCAGCGTCAGCACCGCAGTCTACAAGCGCTTCCCCAGCGCCCAGCACCTGGTGCAAGCAGGTGGGCGGACCGGGAGCAACGGGGAGGCACCGGGCAGAGCCAGGGGCCGAGATGGGCGCGGCAGGAATGGAAGATGGGTGGAGCCAAAGTCCCCCGGACTCGGGGGATTGGGTGGAGCCAGGAGTGGGGTGTAGTCAAGATTTGGGGGTCCAATTGGGCGGGACAGAGTCGGGTGTCTGAAGGTGGGGCGAGGCCAGGAGCCCACCCTCCGAGAGTAGGAGTCTGAGGCAGGGCTAAGGACCCTTGAGGGATAATGGAAAGAAGGGTGACGGCTTGGGAACTGGTGAGGTACTAGGGTCTACTTCCCTCTGCCCTTGCCCCTCTTGATCTCCGGTTTCCACTCTGGAGGTATGGGACATTGGTCTCTGACACCCCCTCAGCCTGGCCTGACCTGGTCCTGGTTAATAAGACAGACCCAGGCTAGGCGTGGTGGCTGTCGCCTGTAATCCCAGTGCTTTAGGAGGCAAAGGTGGGAAGATCGCTTGAGCCCAGCTGTTTGAGACGCCCCTGAGCAACATAGCGAGACCCCCATCTCTACAAAAACATTAAAAATTAGCAGGGCATGGTGGCGTGTGCCTGCAGTCTGAGGCTGAGTATCGGGAGGCTGAGGCAGGAGGATCACTTGAGCCCAGCAGTTCCAGGCTGCAGTGCGCTAAGATCGCACCGCTGCACTCCAACCTCGGTGACAGAGCCAGACCCTTTCTCTGGAAATAAATAAATACCCTGCCCACATGCTCAGCCCAGAACAGCACCTAGTAGGTGCTCAGAAATTTTTTTGTTGTTGAAAGAAAGAGGATGGCAAAGGAGTGCTGAGGTTCCTATAGGTCAGCAGGTGCCGGCCATCCCTTCTGCAGGTTCTCCCACCCACCGCCTTCTTCACTCCACTCTGCAGGCTTTATGACTCCGGCAGAACACAAGCAGTTGGAGAAACTGAGCCTACCACACAACATGTTCTGGGTGCCCTGGGTGTGGTTTGCCAACCTGTCAATGAAGGCGTGGCTTGGAGGTCGAATCTGGGACCCTATCCTGCTCCAGAGCCTGCTGAACGTGAGCCCACTGTACAGACAGGGCTGCCGCAGAGTGGGAAGGGCTGTGGTCCACAGGAAACAAGGTTTCCTACAAAGAGAAGCCTTGGGCCCCTGAGGGTCTTCCGAGAGCCTGAGGTGGGGTTGCAGAATCTTTTCCAACAGCAATCCACAGCCCGAGGTGGTCCCTTCTCAGAGGCCCCTCCCTCTTCTCCAAGTCTGTGAGGTCCTGGTTCCCTTTTGATAGATGAGGAAGCTGAGACACAAAGAGGTTTAGTGAGCTTCCCATGGCCACACAGCCAGGAATGGACCATAGGTACCAGGCCCTGGTACCTGGAGAAGAGGTGGGGGCGAGCCCAGGGTGGGGGCAGGTGGTGTTCAGAACCCCATCCCCCTCTTCTGCCCCCCAGGAGATGAACACCTTGCGTACTCAGTGTGGACACCTGTATGCCTACGACTGGATTAGTATCCCACTGGTGTATACACAGGTGAGGACTAGGCTGGTGAGGCTGCCCTTTTGGGAAACTGAGGCTAGAAGGACCAAGGAAGCAGCTGGGGTGGGAAGGGCTCACCTAGAGGCTAAGTGGCTCCCCTGGGAGTTGGGTCCACACTTTGAAGTTGGGTCTGGACTTTGAAGTGCCAAGTTCTAAGAGTCCAGGCTCCTGCCTGGCCCAGTCCAGTAGAGGCAATGTGATTATCCCCATATTAAAGAGAGGTTGGCCGGGTGCAGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAAGCTGAGGCAGGTGGATCACCTGAGGTCAGGAGTTCGAGACCAGCCTGGCCAACATGGTGAAACCCCATCTCTACTGAAAATACAGAATTAGCTGTGTGGTGGTGCACGCCTGTAATCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATCGCTTGAACCCGGGAGGTGGAGGTTGCAGTGAGCTGAGATCATGCCACTGCACTCCAGCCTGGGCGACACAGCAAGACTCTGTCTCAAACAAACAAACAAACAAACAAACAAAGGGGTTAACAGAGCCCCTAAGTCACATAAGTGTGCAAGTCAGAACAAGGCCTTGGTCTCCTGTCTCAGACTCCCAGCCCCTGGAGCATCCTGATTTCAGGGTTCCCACCTAGCCCTTTGCTACCACATCCTCCTCCTCCTCCCAGGTGGTGACTGTGGCGGTGTACAGCTTCTTCCTGACTTGTCTAGTTGGGCGGCAGTTTCTGAACCCAGCCAAGGCCTACCCTGGCCATGAGCTGGACCTCGTTGTGCCCGTCTTCACGTTCCTGCAGTTCTTCTTCTATGTTGGCTGGCTGAAGGTGGGCCTCTCCAGGGCCCTGCTGGGCTGGAGGCATGGCCAGAGGGGTCATGGCCAGCAGCTGCCTGAGACGAGGATGCAGTGTCAGGAAAGGAAGGTCTCACGGGTAGAAAGCAGCCAGGCGTGGTGGCGCACACCTGTAATCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATCGCTTGAACCCGGGAGGCGGAGGTTGTGGTGAGTTGAGATCGTGCCACTGCACTCCAGCCTGGGCAAAAGAATGAAACTCTATCTCAAAAACAACAACAACAACAAAACAAAGCCCTAAGGTTCAGAAGCCCCTGCCCTTTAGAAGGCAGATCGGCACCACCTCTCCTTATTCAAGATGCCTGTTGGGCTGTCTTGTTCCTCACCTCAAGTGGCTTGTCCAGGTATTCCCTCCCACCACAGCCAATACTCCGAACAGATGTTCTGAATCACACAGTTTTCTCTCCACCTCTTTATCTTTCCTTCCTTCTGTTGCCCACCCACTCTCTCTCCCTTCCTACCTTCCTTTATTTTTTGGTAATGGGGGTGTAAGTCTCTGTCTCTGCCCTTCCTGTCACTGTGACACACACACACACACACACACACACACACACATACACACACACACACACGCATTCCTATTCCTCTAAATTCCCCCTGCCCCCCCAGTTATCTTTGGTTTCTGCAGATCAAAACAAATCACACTTTTATGCTTGAAATTC
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Task1_train_15913
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This mutation occurs in BEST1 (bestrophin 1) on Chromosome 11. Does this change lead to a known medical condition, or is it benign?
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Pathogenic; Autosomal recessive bestrophinopathy
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TCCGGGTTTGGGGCTGTACAAGGAGCATCATGGACCTGGCTCAGGCCTCAGGAGGGGCCCTGGGCTGGGGAAAATGTGGGATAGCATCGAGGCAGTCCCACTCCTACCCAGGGCCGGGCTAGACCTGGGGACAGTCTCAGCCATCTCCTCGCTGCGTCCACACAATTCCACCCCCACCCCCACCCCCAGGCTGGCCCTCACGGAAGAACAACAGCTGATGTTTGAGAAACTGACTCTGTATTGCGACAGCTACATCCAGCTCATCCCCATTTCCTTCGTGCTGGGTGAGTTCCCCCTTCTGGCTGTTCCGGGTCCCTGTGGCCGCCCAGGCTCCAGACAGGCCAGGGGAGGATCACGAGGAGCTGCGGCAAGGGGCTGGGGAGGGGGCGGGGGAACGCCAGCGGCAGGTCGGCGCCTCTCTGTAGGGAAAGGTGCGGACTGCAGCCAGTGAAACTGAAGTTAGACGTTAGGTAAGACGTCCTGCCGTTAGCAATGAAAACCCCATTTTCTGAGGGAAGCGCTGACATCATGGTCCCTGGAGCCCCTGCGCGGGAGGGGAGGGGGTCTGGCGGATTTCTGGGACCAGCAGGGGGACCCCCGGGTGACAGAACCCTTGGGGCTCTCGCGCCTCCATGCGAGGCTCTGCCTGCCTCTCGCTCCCGAGCGCCTTCCAGGAGGGCTGGGGGCTAGGCCCGCTCGCAGCAGAAAGCTGGAGGAGCCGAGGCATCGCCGGGCGCTGGGCCCTGGGCTCTGGCCGCAGCCTGGCCCCTCGCCCCTCGCCCCCCGCCCCTCCTGCCCAGGCTTCTACGTGACGCTGGTCGTGACCCGCTGGTGGAACCAGTACGAGAACCTGCCGTGGCCCGACCGCCTCATGAGCCTGGTGTCGGGCTTCGTCGAAGGCAAGGACGAGCAAGGCCGGCTGCTGCGGCGCACGCTCATCCGCTACGCCAACCTGGGCAACGTGCTCATCCTGCGCAGCGTCAGCACCGCAGTCTACAAGCGCTTCCCCAGCGCCCAGCACCTGGTGCAAGCAGGTGGGCGGACCGGGAGCAACGGGGAGGCACCGGGCAGAGCCAGGGGCCGAGATGGGCGCGGCAGGAATGGAAGATGGGTGGAGCCAAAGTCCCCCGGACTCGGGGGATTGGGTGGAGCCAGGAGTGGGGTGTAGTCAAGATTTGGGGGTCCAATTGGGCGGGACAGAGTCGGGTGTCTGAAGGTGGGGCGAGGCCAGGAGCCCACCCTCCGAGAGTAGGAGTCTGAGGCAGGGCTAAGGACCCTTGAGGGATAATGGAAAGAAGGGTGACGGCTTGGGAACTGGTGAGGTACTAGGGTCTACTTCCCTCTGCCCTTGCCCCTCTTGATCTCCGGTTTCCACTCTGGAGGTATGGGACATTGGTCTCTGACACCCCCTCAGCCTGGCCTGACCTGGTCCTGGTTAATAAGACAGACCCAGGCTAGGCGTGGTGGCTGTCGCCTGTAATCCCAGTGCTTTAGGAGGCAAAGGTGGGAAGATCGCTTGAGCCCAGCTGTTTGAGACGCCCCTGAGCAACATAGCGAGACCCCCATCTCTACAAAAACATTAAAAATTAGCAGGGCATGGTGGCGTGTGCCTGCAGTCTGAGGCTGAGTATCGGGAGGCTGAGGCAGGAGGATCACTTGAGCCCAGCAGTTCCAGGCTGCAGTGCGCTAAGATCGCACCGCTGCACTCCAACCTCGGTGACAGAGCCAGACCCTTTCTCTGGAAATAAATAAATACCCTGCCCACATGCTCAGCCCAGAACAGCACCTAGTAGGTGCTCAGAAATTTTTTTGTTGTTGAAAGAAAGAGGATGGCAAAGGAGTGCTGAGGTTCCTATAGGTCAGCAGGTGCCGGCCATCCCTTCTGCAGGTTCTCCCACCCACCGCCTTCTTCACTCCACTCTGCAGGCTTTATGACTCCGGCAGAACACAAGCAGTTGGAGAAACTGAGCCTACCACACAACATGTTCTGGGTGCCCTGGGTGTGGTTTGCCAACCTGTCAATGAAGGCGTGGCTTGGAGGTCGAATCCGGGACCCTATCCTGCTCCAGAGCCTGCTGAACGTGAGCCCACTGTACAGACAGGGCTGCCGCAGAGTGGGAAGGGCTGTGGTCCACAGGAAACAAGGTTTCCTACAAAGAGAAGCCTTGGGCCCCTGAGGGTCTTCCGAGAGCCTGAGGTGGGGTTGCAGAATCTTTTCCAACAGCAATCCACAGCCCGAGGTGGTCCCTTCTCAGAGGCCCCTCCCTCTTCTCCAAGTCTGTGAGGTCCTGGTTCCCTTTTGATAGATGAGGAAGCTGAGACACAAAGAGGTTTAGTGAGCTTCCCATGGCCACACAGCCAGGAATGGACCATAGGTACCAGGCCCTGGTACCTGGAGAAGAGGTGGGGGCGAGCCCAGGGTGGGGGCAGGTGGTGTTCAGAACCCCATCCCCCTCTTCTGCCCCCCAGGAGATGAACACCTTGCGTACTCAGTGTGGACACCTGTATGCCTACGACTGGATTAGTATCCCACTGGTGTATACACAGGTGAGGACTAGGCTGGTGAGGCTGCCCTTTTGGGAAACTGAGGCTAGAAGGACCAAGGAAGCAGCTGGGGTGGGAAGGGCTCACCTAGAGGCTAAGTGGCTCCCCTGGGAGTTGGGTCCACACTTTGAAGTTGGGTCTGGACTTTGAAGTGCCAAGTTCTAAGAGTCCAGGCTCCTGCCTGGCCCAGTCCAGTAGAGGCAATGTGATTATCCCCATATTAAAGAGAGGTTGGCCGGGTGCAGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAAGCTGAGGCAGGTGGATCACCTGAGGTCAGGAGTTCGAGACCAGCCTGGCCAACATGGTGAAACCCCATCTCTACTGAAAATACAGAATTAGCTGTGTGGTGGTGCACGCCTGTAATCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATCGCTTGAACCCGGGAGGTGGAGGTTGCAGTGAGCTGAGATCATGCCACTGCACTCCAGCCTGGGCGACACAGCAAGACTCTGTCTCAAACAAACAAACAAACAAACAAACAAAGGGGTTAACAGAGCCCCTAAGTCACATAAGTGTGCAAGTCAGAACAAGGCCTTGGTCTCCTGTCTCAGACTCCCAGCCCCTGGAGCATCCTGATTTCAGGGTTCCCACCTAGCCCTTTGCTACCACATCCTCCTCCTCCTCCCAGGTGGTGACTGTGGCGGTGTACAGCTTCTTCCTGACTTGTCTAGTTGGGCGGCAGTTTCTGAACCCAGCCAAGGCCTACCCTGGCCATGAGCTGGACCTCGTTGTGCCCGTCTTCACGTTCCTGCAGTTCTTCTTCTATGTTGGCTGGCTGAAGGTGGGCCTCTCCAGGGCCCTGCTGGGCTGGAGGCATGGCCAGAGGGGTCATGGCCAGCAGCTGCCTGAGACGAGGATGCAGTGTCAGGAAAGGAAGGTCTCACGGGTAGAAAGCAGCCAGGCGTGGTGGCGCACACCTGTAATCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATCGCTTGAACCCGGGAGGCGGAGGTTGTGGTGAGTTGAGATCGTGCCACTGCACTCCAGCCTGGGCAAAAGAATGAAACTCTATCTCAAAAACAACAACAACAACAAAACAAAGCCCTAAGGTTCAGAAGCCCCTGCCCTTTAGAAGGCAGATCGGCACCACCTCTCCTTATTCAAGATGCCTGTTGGGCTGTCTTGTTCCTCACCTCAAGTGGCTTGTCCAGGTATTCCCTCCCACCACAGCCAATACTCCGAACAGATGTTCTGAATCACACAGTTTTCTCTCCACCTCTTTATCTTTCCTTCCTTCTGTTGCCCACCCACTCTCTCTCCCTTCCTACCTTCCTTTATTTTTTGGTAATGGGGGTGTAAGTCTCTGTCTCTGCCCTTCCTGTCACTGTGACACACACACACACACACACACACACACACACATACACACACACACACACGCATTCCTATTCCTCTAAATTCCCCCTGCCCCCCCAGTTATCTTTGGTTTCTGCAGATCAAAACAAATCACACTTTTATGCTTGAAATTC
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TCCGGGTTTGGGGCTGTACAAGGAGCATCATGGACCTGGCTCAGGCCTCAGGAGGGGCCCTGGGCTGGGGAAAATGTGGGATAGCATCGAGGCAGTCCCACTCCTACCCAGGGCCGGGCTAGACCTGGGGACAGTCTCAGCCATCTCCTCGCTGCGTCCACACAATTCCACCCCCACCCCCACCCCCAGGCTGGCCCTCACGGAAGAACAACAGCTGATGTTTGAGAAACTGACTCTGTATTGCGACAGCTACATCCAGCTCATCCCCATTTCCTTCGTGCTGGGTGAGTTCCCCCTTCTGGCTGTTCCGGGTCCCTGTGGCCGCCCAGGCTCCAGACAGGCCAGGGGAGGATCACGAGGAGCTGCGGCAAGGGGCTGGGGAGGGGGCGGGGGAACGCCAGCGGCAGGTCGGCGCCTCTCTGTAGGGAAAGGTGCGGACTGCAGCCAGTGAAACTGAAGTTAGACGTTAGGTAAGACGTCCTGCCGTTAGCAATGAAAACCCCATTTTCTGAGGGAAGCGCTGACATCATGGTCCCTGGAGCCCCTGCGCGGGAGGGGAGGGGGTCTGGCGGATTTCTGGGACCAGCAGGGGGACCCCCGGGTGACAGAACCCTTGGGGCTCTCGCGCCTCCATGCGAGGCTCTGCCTGCCTCTCGCTCCCGAGCGCCTTCCAGGAGGGCTGGGGGCTAGGCCCGCTCGCAGCAGAAAGCTGGAGGAGCCGAGGCATCGCCGGGCGCTGGGCCCTGGGCTCTGGCCGCAGCCTGGCCCCTCGCCCCTCGCCCCCCGCCCCTCCTGCCCAGGCTTCTACGTGACGCTGGTCGTGACCCGCTGGTGGAACCAGTACGAGAACCTGCCGTGGCCCGACCGCCTCATGAGCCTGGTGTCGGGCTTCGTCGAAGGCAAGGACGAGCAAGGCCGGCTGCTGCGGCGCACGCTCATCCGCTACGCCAACCTGGGCAACGTGCTCATCCTGCGCAGCGTCAGCACCGCAGTCTACAAGCGCTTCCCCAGCGCCCAGCACCTGGTGCAAGCAGGTGGGCGGACCGGGAGCAACGGGGAGGCACCGGGCAGAGCCAGGGGCCGAGATGGGCGCGGCAGGAATGGAAGATGGGTGGAGCCAAAGTCCCCCGGACTCGGGGGATTGGGTGGAGCCAGGAGTGGGGTGTAGTCAAGATTTGGGGGTCCAATTGGGCGGGACAGAGTCGGGTGTCTGAAGGTGGGGCGAGGCCAGGAGCCCACCCTCCGAGAGTAGGAGTCTGAGGCAGGGCTAAGGACCCTTGAGGGATAATGGAAAGAAGGGTGACGGCTTGGGAACTGGTGAGGTACTAGGGTCTACTTCCCTCTGCCCTTGCCCCTCTTGATCTCCGGTTTCCACTCTGGAGGTATGGGACATTGGTCTCTGACACCCCCTCAGCCTGGCCTGACCTGGTCCTGGTTAATAAGACAGACCCAGGCTAGGCGTGGTGGCTGTCGCCTGTAATCCCAGTGCTTTAGGAGGCAAAGGTGGGAAGATCGCTTGAGCCCAGCTGTTTGAGACGCCCCTGAGCAACATAGCGAGACCCCCATCTCTACAAAAACATTAAAAATTAGCAGGGCATGGTGGCGTGTGCCTGCAGTCTGAGGCTGAGTATCGGGAGGCTGAGGCAGGAGGATCACTTGAGCCCAGCAGTTCCAGGCTGCAGTGCGCTAAGATCGCACCGCTGCACTCCAACCTCGGTGACAGAGCCAGACCCTTTCTCTGGAAATAAATAAATACCCTGCCCACATGCTCAGCCCAGAACAGCACCTAGTAGGTGCTCAGAAATTTTTTTGTTGTTGAAAGAAAGAGGATGGCAAAGGAGTGCTGAGGTTCCTATAGGTCAGCAGGTGCCGGCCATCCCTTCTGCAGGTTCTCCCACCCACCGCCTTCTTCACTCCACTCTGCAGGCTTTATGACTCCGGCAGAACACAAGCAGTTGGAGAAACTGAGCCTACCACACAACATGTTCTGGGTGCCCTGGGTGTGGTTTGCCAACCTGTCAATGAAGGCGTGGCTTGGAGGTCGAATCTGGGACCCTATCCTGCTCCAGAGCCTGCTGAACGTGAGCCCACTGTACAGACAGGGCTGCCGCAGAGTGGGAAGGGCTGTGGTCCACAGGAAACAAGGTTTCCTACAAAGAGAAGCCTTGGGCCCCTGAGGGTCTTCCGAGAGCCTGAGGTGGGGTTGCAGAATCTTTTCCAACAGCAATCCACAGCCCGAGGTGGTCCCTTCTCAGAGGCCCCTCCCTCTTCTCCAAGTCTGTGAGGTCCTGGTTCCCTTTTGATAGATGAGGAAGCTGAGACACAAAGAGGTTTAGTGAGCTTCCCATGGCCACACAGCCAGGAATGGACCATAGGTACCAGGCCCTGGTACCTGGAGAAGAGGTGGGGGCGAGCCCAGGGTGGGGGCAGGTGGTGTTCAGAACCCCATCCCCCTCTTCTGCCCCCCAGGAGATGAACACCTTGCGTACTCAGTGTGGACACCTGTATGCCTACGACTGGATTAGTATCCCACTGGTGTATACACAGGTGAGGACTAGGCTGGTGAGGCTGCCCTTTTGGGAAACTGAGGCTAGAAGGACCAAGGAAGCAGCTGGGGTGGGAAGGGCTCACCTAGAGGCTAAGTGGCTCCCCTGGGAGTTGGGTCCACACTTTGAAGTTGGGTCTGGACTTTGAAGTGCCAAGTTCTAAGAGTCCAGGCTCCTGCCTGGCCCAGTCCAGTAGAGGCAATGTGATTATCCCCATATTAAAGAGAGGTTGGCCGGGTGCAGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAAGCTGAGGCAGGTGGATCACCTGAGGTCAGGAGTTCGAGACCAGCCTGGCCAACATGGTGAAACCCCATCTCTACTGAAAATACAGAATTAGCTGTGTGGTGGTGCACGCCTGTAATCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATCGCTTGAACCCGGGAGGTGGAGGTTGCAGTGAGCTGAGATCATGCCACTGCACTCCAGCCTGGGCGACACAGCAAGACTCTGTCTCAAACAAACAAACAAACAAACAAACAAAGGGGTTAACAGAGCCCCTAAGTCACATAAGTGTGCAAGTCAGAACAAGGCCTTGGTCTCCTGTCTCAGACTCCCAGCCCCTGGAGCATCCTGATTTCAGGGTTCCCACCTAGCCCTTTGCTACCACATCCTCCTCCTCCTCCCAGGTGGTGACTGTGGCGGTGTACAGCTTCTTCCTGACTTGTCTAGTTGGGCGGCAGTTTCTGAACCCAGCCAAGGCCTACCCTGGCCATGAGCTGGACCTCGTTGTGCCCGTCTTCACGTTCCTGCAGTTCTTCTTCTATGTTGGCTGGCTGAAGGTGGGCCTCTCCAGGGCCCTGCTGGGCTGGAGGCATGGCCAGAGGGGTCATGGCCAGCAGCTGCCTGAGACGAGGATGCAGTGTCAGGAAAGGAAGGTCTCACGGGTAGAAAGCAGCCAGGCGTGGTGGCGCACACCTGTAATCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATCGCTTGAACCCGGGAGGCGGAGGTTGTGGTGAGTTGAGATCGTGCCACTGCACTCCAGCCTGGGCAAAAGAATGAAACTCTATCTCAAAAACAACAACAACAACAAAACAAAGCCCTAAGGTTCAGAAGCCCCTGCCCTTTAGAAGGCAGATCGGCACCACCTCTCCTTATTCAAGATGCCTGTTGGGCTGTCTTGTTCCTCACCTCAAGTGGCTTGTCCAGGTATTCCCTCCCACCACAGCCAATACTCCGAACAGATGTTCTGAATCACACAGTTTTCTCTCCACCTCTTTATCTTTCCTTCCTTCTGTTGCCCACCCACTCTCTCTCCCTTCCTACCTTCCTTTATTTTTTGGTAATGGGGGTGTAAGTCTCTGTCTCTGCCCTTCCTGTCACTGTGACACACACACACACACACACACACACACACACATACACACACACACACACGCATTCCTATTCCTCTAAATTCCCCCTGCCCCCCCAGTTATCTTTGGTTTCTGCAGATCAAAACAAATCACACTTTTATGCTTGAAATTC
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Task1_train_15914
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A variant was discovered in gene BEST1 (bestrophin 1), Chromosome 11. Please indicate if this mutation results in a known disease or if it's non-harmful.
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Pathogenic; not provided
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GGGCTGTACAAGGAGCATCATGGACCTGGCTCAGGCCTCAGGAGGGGCCCTGGGCTGGGGAAAATGTGGGATAGCATCGAGGCAGTCCCACTCCTACCCAGGGCCGGGCTAGACCTGGGGACAGTCTCAGCCATCTCCTCGCTGCGTCCACACAATTCCACCCCCACCCCCACCCCCAGGCTGGCCCTCACGGAAGAACAACAGCTGATGTTTGAGAAACTGACTCTGTATTGCGACAGCTACATCCAGCTCATCCCCATTTCCTTCGTGCTGGGTGAGTTCCCCCTTCTGGCTGTTCCGGGTCCCTGTGGCCGCCCAGGCTCCAGACAGGCCAGGGGAGGATCACGAGGAGCTGCGGCAAGGGGCTGGGGAGGGGGCGGGGGAACGCCAGCGGCAGGTCGGCGCCTCTCTGTAGGGAAAGGTGCGGACTGCAGCCAGTGAAACTGAAGTTAGACGTTAGGTAAGACGTCCTGCCGTTAGCAATGAAAACCCCATTTTCTGAGGGAAGCGCTGACATCATGGTCCCTGGAGCCCCTGCGCGGGAGGGGAGGGGGTCTGGCGGATTTCTGGGACCAGCAGGGGGACCCCCGGGTGACAGAACCCTTGGGGCTCTCGCGCCTCCATGCGAGGCTCTGCCTGCCTCTCGCTCCCGAGCGCCTTCCAGGAGGGCTGGGGGCTAGGCCCGCTCGCAGCAGAAAGCTGGAGGAGCCGAGGCATCGCCGGGCGCTGGGCCCTGGGCTCTGGCCGCAGCCTGGCCCCTCGCCCCTCGCCCCCCGCCCCTCCTGCCCAGGCTTCTACGTGACGCTGGTCGTGACCCGCTGGTGGAACCAGTACGAGAACCTGCCGTGGCCCGACCGCCTCATGAGCCTGGTGTCGGGCTTCGTCGAAGGCAAGGACGAGCAAGGCCGGCTGCTGCGGCGCACGCTCATCCGCTACGCCAACCTGGGCAACGTGCTCATCCTGCGCAGCGTCAGCACCGCAGTCTACAAGCGCTTCCCCAGCGCCCAGCACCTGGTGCAAGCAGGTGGGCGGACCGGGAGCAACGGGGAGGCACCGGGCAGAGCCAGGGGCCGAGATGGGCGCGGCAGGAATGGAAGATGGGTGGAGCCAAAGTCCCCCGGACTCGGGGGATTGGGTGGAGCCAGGAGTGGGGTGTAGTCAAGATTTGGGGGTCCAATTGGGCGGGACAGAGTCGGGTGTCTGAAGGTGGGGCGAGGCCAGGAGCCCACCCTCCGAGAGTAGGAGTCTGAGGCAGGGCTAAGGACCCTTGAGGGATAATGGAAAGAAGGGTGACGGCTTGGGAACTGGTGAGGTACTAGGGTCTACTTCCCTCTGCCCTTGCCCCTCTTGATCTCCGGTTTCCACTCTGGAGGTATGGGACATTGGTCTCTGACACCCCCTCAGCCTGGCCTGACCTGGTCCTGGTTAATAAGACAGACCCAGGCTAGGCGTGGTGGCTGTCGCCTGTAATCCCAGTGCTTTAGGAGGCAAAGGTGGGAAGATCGCTTGAGCCCAGCTGTTTGAGACGCCCCTGAGCAACATAGCGAGACCCCCATCTCTACAAAAACATTAAAAATTAGCAGGGCATGGTGGCGTGTGCCTGCAGTCTGAGGCTGAGTATCGGGAGGCTGAGGCAGGAGGATCACTTGAGCCCAGCAGTTCCAGGCTGCAGTGCGCTAAGATCGCACCGCTGCACTCCAACCTCGGTGACAGAGCCAGACCCTTTCTCTGGAAATAAATAAATACCCTGCCCACATGCTCAGCCCAGAACAGCACCTAGTAGGTGCTCAGAAATTTTTTTGTTGTTGAAAGAAAGAGGATGGCAAAGGAGTGCTGAGGTTCCTATAGGTCAGCAGGTGCCGGCCATCCCTTCTGCAGGTTCTCCCACCCACCGCCTTCTTCACTCCACTCTGCAGGCTTTATGACTCCGGCAGAACACAAGCAGTTGGAGAAACTGAGCCTACCACACAACATGTTCTGGGTGCCCTGGGTGTGGTTTGCCAACCTGTCAATGAAGGCGTGGCTTGGAGGTCGAATCCGGGACCCTATCCTGCTCCAGAGCCTGCTGAACGTGAGCCCACTGTACAGACAGGGCTGCCGCAGAGTGGGAAGGGCTGTGGTCCACAGGAAACAAGGTTTCCTACAAAGAGAAGCCTTGGGCCCCTGAGGGTCTTCCGAGAGCCTGAGGTGGGGTTGCAGAATCTTTTCCAACAGCAATCCACAGCCCGAGGTGGTCCCTTCTCAGAGGCCCCTCCCTCTTCTCCAAGTCTGTGAGGTCCTGGTTCCCTTTTGATAGATGAGGAAGCTGAGACACAAAGAGGTTTAGTGAGCTTCCCATGGCCACACAGCCAGGAATGGACCATAGGTACCAGGCCCTGGTACCTGGAGAAGAGGTGGGGGCGAGCCCAGGGTGGGGGCAGGTGGTGTTCAGAACCCCATCCCCCTCTTCTGCCCCCCAGGAGATGAACACCTTGCGTACTCAGTGTGGACACCTGTATGCCTACGACTGGATTAGTATCCCACTGGTGTATACACAGGTGAGGACTAGGCTGGTGAGGCTGCCCTTTTGGGAAACTGAGGCTAGAAGGACCAAGGAAGCAGCTGGGGTGGGAAGGGCTCACCTAGAGGCTAAGTGGCTCCCCTGGGAGTTGGGTCCACACTTTGAAGTTGGGTCTGGACTTTGAAGTGCCAAGTTCTAAGAGTCCAGGCTCCTGCCTGGCCCAGTCCAGTAGAGGCAATGTGATTATCCCCATATTAAAGAGAGGTTGGCCGGGTGCAGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAAGCTGAGGCAGGTGGATCACCTGAGGTCAGGAGTTCGAGACCAGCCTGGCCAACATGGTGAAACCCCATCTCTACTGAAAATACAGAATTAGCTGTGTGGTGGTGCACGCCTGTAATCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATCGCTTGAACCCGGGAGGTGGAGGTTGCAGTGAGCTGAGATCATGCCACTGCACTCCAGCCTGGGCGACACAGCAAGACTCTGTCTCAAACAAACAAACAAACAAACAAACAAAGGGGTTAACAGAGCCCCTAAGTCACATAAGTGTGCAAGTCAGAACAAGGCCTTGGTCTCCTGTCTCAGACTCCCAGCCCCTGGAGCATCCTGATTTCAGGGTTCCCACCTAGCCCTTTGCTACCACATCCTCCTCCTCCTCCCAGGTGGTGACTGTGGCGGTGTACAGCTTCTTCCTGACTTGTCTAGTTGGGCGGCAGTTTCTGAACCCAGCCAAGGCCTACCCTGGCCATGAGCTGGACCTCGTTGTGCCCGTCTTCACGTTCCTGCAGTTCTTCTTCTATGTTGGCTGGCTGAAGGTGGGCCTCTCCAGGGCCCTGCTGGGCTGGAGGCATGGCCAGAGGGGTCATGGCCAGCAGCTGCCTGAGACGAGGATGCAGTGTCAGGAAAGGAAGGTCTCACGGGTAGAAAGCAGCCAGGCGTGGTGGCGCACACCTGTAATCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATCGCTTGAACCCGGGAGGCGGAGGTTGTGGTGAGTTGAGATCGTGCCACTGCACTCCAGCCTGGGCAAAAGAATGAAACTCTATCTCAAAAACAACAACAACAACAAAACAAAGCCCTAAGGTTCAGAAGCCCCTGCCCTTTAGAAGGCAGATCGGCACCACCTCTCCTTATTCAAGATGCCTGTTGGGCTGTCTTGTTCCTCACCTCAAGTGGCTTGTCCAGGTATTCCCTCCCACCACAGCCAATACTCCGAACAGATGTTCTGAATCACACAGTTTTCTCTCCACCTCTTTATCTTTCCTTCCTTCTGTTGCCCACCCACTCTCTCTCCCTTCCTACCTTCCTTTATTTTTTGGTAATGGGGGTGTAAGTCTCTGTCTCTGCCCTTCCTGTCACTGTGACACACACACACACACACACACACACACACACATACACACACACACACACGCATTCCTATTCCTCTAAATTCCCCCTGCCCCCCCAGTTATCTTTGGTTTCTGCAGATCAAAACAAATCACACTTTTATGCTTGAAATTCTCCGGGGTGC
|
GGGCTGTACAAGGAGCATCATGGACCTGGCTCAGGCCTCAGGAGGGGCCCTGGGCTGGGGAAAATGTGGGATAGCATCGAGGCAGTCCCACTCCTACCCAGGGCCGGGCTAGACCTGGGGACAGTCTCAGCCATCTCCTCGCTGCGTCCACACAATTCCACCCCCACCCCCACCCCCAGGCTGGCCCTCACGGAAGAACAACAGCTGATGTTTGAGAAACTGACTCTGTATTGCGACAGCTACATCCAGCTCATCCCCATTTCCTTCGTGCTGGGTGAGTTCCCCCTTCTGGCTGTTCCGGGTCCCTGTGGCCGCCCAGGCTCCAGACAGGCCAGGGGAGGATCACGAGGAGCTGCGGCAAGGGGCTGGGGAGGGGGCGGGGGAACGCCAGCGGCAGGTCGGCGCCTCTCTGTAGGGAAAGGTGCGGACTGCAGCCAGTGAAACTGAAGTTAGACGTTAGGTAAGACGTCCTGCCGTTAGCAATGAAAACCCCATTTTCTGAGGGAAGCGCTGACATCATGGTCCCTGGAGCCCCTGCGCGGGAGGGGAGGGGGTCTGGCGGATTTCTGGGACCAGCAGGGGGACCCCCGGGTGACAGAACCCTTGGGGCTCTCGCGCCTCCATGCGAGGCTCTGCCTGCCTCTCGCTCCCGAGCGCCTTCCAGGAGGGCTGGGGGCTAGGCCCGCTCGCAGCAGAAAGCTGGAGGAGCCGAGGCATCGCCGGGCGCTGGGCCCTGGGCTCTGGCCGCAGCCTGGCCCCTCGCCCCTCGCCCCCCGCCCCTCCTGCCCAGGCTTCTACGTGACGCTGGTCGTGACCCGCTGGTGGAACCAGTACGAGAACCTGCCGTGGCCCGACCGCCTCATGAGCCTGGTGTCGGGCTTCGTCGAAGGCAAGGACGAGCAAGGCCGGCTGCTGCGGCGCACGCTCATCCGCTACGCCAACCTGGGCAACGTGCTCATCCTGCGCAGCGTCAGCACCGCAGTCTACAAGCGCTTCCCCAGCGCCCAGCACCTGGTGCAAGCAGGTGGGCGGACCGGGAGCAACGGGGAGGCACCGGGCAGAGCCAGGGGCCGAGATGGGCGCGGCAGGAATGGAAGATGGGTGGAGCCAAAGTCCCCCGGACTCGGGGGATTGGGTGGAGCCAGGAGTGGGGTGTAGTCAAGATTTGGGGGTCCAATTGGGCGGGACAGAGTCGGGTGTCTGAAGGTGGGGCGAGGCCAGGAGCCCACCCTCCGAGAGTAGGAGTCTGAGGCAGGGCTAAGGACCCTTGAGGGATAATGGAAAGAAGGGTGACGGCTTGGGAACTGGTGAGGTACTAGGGTCTACTTCCCTCTGCCCTTGCCCCTCTTGATCTCCGGTTTCCACTCTGGAGGTATGGGACATTGGTCTCTGACACCCCCTCAGCCTGGCCTGACCTGGTCCTGGTTAATAAGACAGACCCAGGCTAGGCGTGGTGGCTGTCGCCTGTAATCCCAGTGCTTTAGGAGGCAAAGGTGGGAAGATCGCTTGAGCCCAGCTGTTTGAGACGCCCCTGAGCAACATAGCGAGACCCCCATCTCTACAAAAACATTAAAAATTAGCAGGGCATGGTGGCGTGTGCCTGCAGTCTGAGGCTGAGTATCGGGAGGCTGAGGCAGGAGGATCACTTGAGCCCAGCAGTTCCAGGCTGCAGTGCGCTAAGATCGCACCGCTGCACTCCAACCTCGGTGACAGAGCCAGACCCTTTCTCTGGAAATAAATAAATACCCTGCCCACATGCTCAGCCCAGAACAGCACCTAGTAGGTGCTCAGAAATTTTTTTGTTGTTGAAAGAAAGAGGATGGCAAAGGAGTGCTGAGGTTCCTATAGGTCAGCAGGTGCCGGCCATCCCTTCTGCAGGTTCTCCCACCCACCGCCTTCTTCACTCCACTCTGCAGGCTTTATGACTCCGGCAGAACACAAGCAGTTGGAGAAACTGAGCCTACCACACAACATGTTCTGGGTGCCCTGGGTGTGGTTTGCCAACCTGTCAATGAAGGCGTGGCTTGGAGGTCGAATCCGGGACCCTACCCTGCTCCAGAGCCTGCTGAACGTGAGCCCACTGTACAGACAGGGCTGCCGCAGAGTGGGAAGGGCTGTGGTCCACAGGAAACAAGGTTTCCTACAAAGAGAAGCCTTGGGCCCCTGAGGGTCTTCCGAGAGCCTGAGGTGGGGTTGCAGAATCTTTTCCAACAGCAATCCACAGCCCGAGGTGGTCCCTTCTCAGAGGCCCCTCCCTCTTCTCCAAGTCTGTGAGGTCCTGGTTCCCTTTTGATAGATGAGGAAGCTGAGACACAAAGAGGTTTAGTGAGCTTCCCATGGCCACACAGCCAGGAATGGACCATAGGTACCAGGCCCTGGTACCTGGAGAAGAGGTGGGGGCGAGCCCAGGGTGGGGGCAGGTGGTGTTCAGAACCCCATCCCCCTCTTCTGCCCCCCAGGAGATGAACACCTTGCGTACTCAGTGTGGACACCTGTATGCCTACGACTGGATTAGTATCCCACTGGTGTATACACAGGTGAGGACTAGGCTGGTGAGGCTGCCCTTTTGGGAAACTGAGGCTAGAAGGACCAAGGAAGCAGCTGGGGTGGGAAGGGCTCACCTAGAGGCTAAGTGGCTCCCCTGGGAGTTGGGTCCACACTTTGAAGTTGGGTCTGGACTTTGAAGTGCCAAGTTCTAAGAGTCCAGGCTCCTGCCTGGCCCAGTCCAGTAGAGGCAATGTGATTATCCCCATATTAAAGAGAGGTTGGCCGGGTGCAGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAAGCTGAGGCAGGTGGATCACCTGAGGTCAGGAGTTCGAGACCAGCCTGGCCAACATGGTGAAACCCCATCTCTACTGAAAATACAGAATTAGCTGTGTGGTGGTGCACGCCTGTAATCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATCGCTTGAACCCGGGAGGTGGAGGTTGCAGTGAGCTGAGATCATGCCACTGCACTCCAGCCTGGGCGACACAGCAAGACTCTGTCTCAAACAAACAAACAAACAAACAAACAAAGGGGTTAACAGAGCCCCTAAGTCACATAAGTGTGCAAGTCAGAACAAGGCCTTGGTCTCCTGTCTCAGACTCCCAGCCCCTGGAGCATCCTGATTTCAGGGTTCCCACCTAGCCCTTTGCTACCACATCCTCCTCCTCCTCCCAGGTGGTGACTGTGGCGGTGTACAGCTTCTTCCTGACTTGTCTAGTTGGGCGGCAGTTTCTGAACCCAGCCAAGGCCTACCCTGGCCATGAGCTGGACCTCGTTGTGCCCGTCTTCACGTTCCTGCAGTTCTTCTTCTATGTTGGCTGGCTGAAGGTGGGCCTCTCCAGGGCCCTGCTGGGCTGGAGGCATGGCCAGAGGGGTCATGGCCAGCAGCTGCCTGAGACGAGGATGCAGTGTCAGGAAAGGAAGGTCTCACGGGTAGAAAGCAGCCAGGCGTGGTGGCGCACACCTGTAATCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATCGCTTGAACCCGGGAGGCGGAGGTTGTGGTGAGTTGAGATCGTGCCACTGCACTCCAGCCTGGGCAAAAGAATGAAACTCTATCTCAAAAACAACAACAACAACAAAACAAAGCCCTAAGGTTCAGAAGCCCCTGCCCTTTAGAAGGCAGATCGGCACCACCTCTCCTTATTCAAGATGCCTGTTGGGCTGTCTTGTTCCTCACCTCAAGTGGCTTGTCCAGGTATTCCCTCCCACCACAGCCAATACTCCGAACAGATGTTCTGAATCACACAGTTTTCTCTCCACCTCTTTATCTTTCCTTCCTTCTGTTGCCCACCCACTCTCTCTCCCTTCCTACCTTCCTTTATTTTTTGGTAATGGGGGTGTAAGTCTCTGTCTCTGCCCTTCCTGTCACTGTGACACACACACACACACACACACACACACACACATACACACACACACACACGCATTCCTATTCCTCTAAATTCCCCCTGCCCCCCCAGTTATCTTTGGTTTCTGCAGATCAAAACAAATCACACTTTTATGCTTGAAATTCTCCGGGGTGC
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Task1_train_15915
|
Here is a variant affecting BEST1 (bestrophin 1) on Chromosome 11. Please identify whether it is a benign mutation or associated with a disorder.
|
Pathogenic; not provided
|
GACTGCAGCCAGTGAAACTGAAGTTAGACGTTAGGTAAGACGTCCTGCCGTTAGCAATGAAAACCCCATTTTCTGAGGGAAGCGCTGACATCATGGTCCCTGGAGCCCCTGCGCGGGAGGGGAGGGGGTCTGGCGGATTTCTGGGACCAGCAGGGGGACCCCCGGGTGACAGAACCCTTGGGGCTCTCGCGCCTCCATGCGAGGCTCTGCCTGCCTCTCGCTCCCGAGCGCCTTCCAGGAGGGCTGGGGGCTAGGCCCGCTCGCAGCAGAAAGCTGGAGGAGCCGAGGCATCGCCGGGCGCTGGGCCCTGGGCTCTGGCCGCAGCCTGGCCCCTCGCCCCTCGCCCCCCGCCCCTCCTGCCCAGGCTTCTACGTGACGCTGGTCGTGACCCGCTGGTGGAACCAGTACGAGAACCTGCCGTGGCCCGACCGCCTCATGAGCCTGGTGTCGGGCTTCGTCGAAGGCAAGGACGAGCAAGGCCGGCTGCTGCGGCGCACGCTCATCCGCTACGCCAACCTGGGCAACGTGCTCATCCTGCGCAGCGTCAGCACCGCAGTCTACAAGCGCTTCCCCAGCGCCCAGCACCTGGTGCAAGCAGGTGGGCGGACCGGGAGCAACGGGGAGGCACCGGGCAGAGCCAGGGGCCGAGATGGGCGCGGCAGGAATGGAAGATGGGTGGAGCCAAAGTCCCCCGGACTCGGGGGATTGGGTGGAGCCAGGAGTGGGGTGTAGTCAAGATTTGGGGGTCCAATTGGGCGGGACAGAGTCGGGTGTCTGAAGGTGGGGCGAGGCCAGGAGCCCACCCTCCGAGAGTAGGAGTCTGAGGCAGGGCTAAGGACCCTTGAGGGATAATGGAAAGAAGGGTGACGGCTTGGGAACTGGTGAGGTACTAGGGTCTACTTCCCTCTGCCCTTGCCCCTCTTGATCTCCGGTTTCCACTCTGGAGGTATGGGACATTGGTCTCTGACACCCCCTCAGCCTGGCCTGACCTGGTCCTGGTTAATAAGACAGACCCAGGCTAGGCGTGGTGGCTGTCGCCTGTAATCCCAGTGCTTTAGGAGGCAAAGGTGGGAAGATCGCTTGAGCCCAGCTGTTTGAGACGCCCCTGAGCAACATAGCGAGACCCCCATCTCTACAAAAACATTAAAAATTAGCAGGGCATGGTGGCGTGTGCCTGCAGTCTGAGGCTGAGTATCGGGAGGCTGAGGCAGGAGGATCACTTGAGCCCAGCAGTTCCAGGCTGCAGTGCGCTAAGATCGCACCGCTGCACTCCAACCTCGGTGACAGAGCCAGACCCTTTCTCTGGAAATAAATAAATACCCTGCCCACATGCTCAGCCCAGAACAGCACCTAGTAGGTGCTCAGAAATTTTTTTGTTGTTGAAAGAAAGAGGATGGCAAAGGAGTGCTGAGGTTCCTATAGGTCAGCAGGTGCCGGCCATCCCTTCTGCAGGTTCTCCCACCCACCGCCTTCTTCACTCCACTCTGCAGGCTTTATGACTCCGGCAGAACACAAGCAGTTGGAGAAACTGAGCCTACCACACAACATGTTCTGGGTGCCCTGGGTGTGGTTTGCCAACCTGTCAATGAAGGCGTGGCTTGGAGGTCGAATCCGGGACCCTATCCTGCTCCAGAGCCTGCTGAACGTGAGCCCACTGTACAGACAGGGCTGCCGCAGAGTGGGAAGGGCTGTGGTCCACAGGAAACAAGGTTTCCTACAAAGAGAAGCCTTGGGCCCCTGAGGGTCTTCCGAGAGCCTGAGGTGGGGTTGCAGAATCTTTTCCAACAGCAATCCACAGCCCGAGGTGGTCCCTTCTCAGAGGCCCCTCCCTCTTCTCCAAGTCTGTGAGGTCCTGGTTCCCTTTTGATAGATGAGGAAGCTGAGACACAAAGAGGTTTAGTGAGCTTCCCATGGCCACACAGCCAGGAATGGACCATAGGTACCAGGCCCTGGTACCTGGAGAAGAGGTGGGGGCGAGCCCAGGGTGGGGGCAGGTGGTGTTCAGAACCCCATCCCCCTCTTCTGCCCCCCAGGAGATGAACACCTTGCGTACTCAGTGTGGACACCTGTATGCCTACGACTGGATTAGTATCCCACTGGTGTATACACAGGTGAGGACTAGGCTGGTGAGGCTGCCCTTTTGGGAAACTGAGGCTAGAAGGACCAAGGAAGCAGCTGGGGTGGGAAGGGCTCACCTAGAGGCTAAGTGGCTCCCCTGGGAGTTGGGTCCACACTTTGAAGTTGGGTCTGGACTTTGAAGTGCCAAGTTCTAAGAGTCCAGGCTCCTGCCTGGCCCAGTCCAGTAGAGGCAATGTGATTATCCCCATATTAAAGAGAGGTTGGCCGGGTGCAGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAAGCTGAGGCAGGTGGATCACCTGAGGTCAGGAGTTCGAGACCAGCCTGGCCAACATGGTGAAACCCCATCTCTACTGAAAATACAGAATTAGCTGTGTGGTGGTGCACGCCTGTAATCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATCGCTTGAACCCGGGAGGTGGAGGTTGCAGTGAGCTGAGATCATGCCACTGCACTCCAGCCTGGGCGACACAGCAAGACTCTGTCTCAAACAAACAAACAAACAAACAAACAAAGGGGTTAACAGAGCCCCTAAGTCACATAAGTGTGCAAGTCAGAACAAGGCCTTGGTCTCCTGTCTCAGACTCCCAGCCCCTGGAGCATCCTGATTTCAGGGTTCCCACCTAGCCCTTTGCTACCACATCCTCCTCCTCCTCCCAGGTGGTGACTGTGGCGGTGTACAGCTTCTTCCTGACTTGTCTAGTTGGGCGGCAGTTTCTGAACCCAGCCAAGGCCTACCCTGGCCATGAGCTGGACCTCGTTGTGCCCGTCTTCACGTTCCTGCAGTTCTTCTTCTATGTTGGCTGGCTGAAGGTGGGCCTCTCCAGGGCCCTGCTGGGCTGGAGGCATGGCCAGAGGGGTCATGGCCAGCAGCTGCCTGAGACGAGGATGCAGTGTCAGGAAAGGAAGGTCTCACGGGTAGAAAGCAGCCAGGCGTGGTGGCGCACACCTGTAATCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATCGCTTGAACCCGGGAGGCGGAGGTTGTGGTGAGTTGAGATCGTGCCACTGCACTCCAGCCTGGGCAAAAGAATGAAACTCTATCTCAAAAACAACAACAACAACAAAACAAAGCCCTAAGGTTCAGAAGCCCCTGCCCTTTAGAAGGCAGATCGGCACCACCTCTCCTTATTCAAGATGCCTGTTGGGCTGTCTTGTTCCTCACCTCAAGTGGCTTGTCCAGGTATTCCCTCCCACCACAGCCAATACTCCGAACAGATGTTCTGAATCACACAGTTTTCTCTCCACCTCTTTATCTTTCCTTCCTTCTGTTGCCCACCCACTCTCTCTCCCTTCCTACCTTCCTTTATTTTTTGGTAATGGGGGTGTAAGTCTCTGTCTCTGCCCTTCCTGTCACTGTGACACACACACACACACACACACACACACACACATACACACACACACACACGCATTCCTATTCCTCTAAATTCCCCCTGCCCCCCCAGTTATCTTTGGTTTCTGCAGATCAAAACAAATCACACTTTTATGCTTGAAATTCTCCGGGGTGCCCCAGTGGCCTGCAAGATGTCCCCTGGACCCCTAAGGCAGACGCGTGTCACCTCTTCGGGGCTTTGTTAGGGCATTTTAGAGGTTGCTATCCAGGAATCTGCCCACCTAGACTGCCCTTTAGTTCAGCCCAGCTTCAGTATATATCTCTGTTGCATGAATGAATAAAATTATGCAACTCCAGGTAAGATACATGAGGTGAGATAAAGGCAGTGACTCAGCCGAGTGATACACTCAGGGACAGCTGTGGGTGTTCAGGGAAGGACTGGCTCAGAAGAGTTAGAGGGGCTGTGTCCAGAAGTGTGTGGGTGCCCACAAGTGTGGGGGGCTGGAGCCCTAAACTCTGCCTTTGAAGACAGTGGTCAGGCAGGAAGGGCGTCATGGGGTGTGGAAATAGCAGCAGCTGAGGTTTAAAGGGGGAAGCTGGC
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GACTGCAGCCAGTGAAACTGAAGTTAGACGTTAGGTAAGACGTCCTGCCGTTAGCAATGAAAACCCCATTTTCTGAGGGAAGCGCTGACATCATGGTCCCTGGAGCCCCTGCGCGGGAGGGGAGGGGGTCTGGCGGATTTCTGGGACCAGCAGGGGGACCCCCGGGTGACAGAACCCTTGGGGCTCTCGCGCCTCCATGCGAGGCTCTGCCTGCCTCTCGCTCCCGAGCGCCTTCCAGGAGGGCTGGGGGCTAGGCCCGCTCGCAGCAGAAAGCTGGAGGAGCCGAGGCATCGCCGGGCGCTGGGCCCTGGGCTCTGGCCGCAGCCTGGCCCCTCGCCCCTCGCCCCCCGCCCCTCCTGCCCAGGCTTCTACGTGACGCTGGTCGTGACCCGCTGGTGGAACCAGTACGAGAACCTGCCGTGGCCCGACCGCCTCATGAGCCTGGTGTCGGGCTTCGTCGAAGGCAAGGACGAGCAAGGCCGGCTGCTGCGGCGCACGCTCATCCGCTACGCCAACCTGGGCAACGTGCTCATCCTGCGCAGCGTCAGCACCGCAGTCTACAAGCGCTTCCCCAGCGCCCAGCACCTGGTGCAAGCAGGTGGGCGGACCGGGAGCAACGGGGAGGCACCGGGCAGAGCCAGGGGCCGAGATGGGCGCGGCAGGAATGGAAGATGGGTGGAGCCAAAGTCCCCCGGACTCGGGGGATTGGGTGGAGCCAGGAGTGGGGTGTAGTCAAGATTTGGGGGTCCAATTGGGCGGGACAGAGTCGGGTGTCTGAAGGTGGGGCGAGGCCAGGAGCCCACCCTCCGAGAGTAGGAGTCTGAGGCAGGGCTAAGGACCCTTGAGGGATAATGGAAAGAAGGGTGACGGCTTGGGAACTGGTGAGGTACTAGGGTCTACTTCCCTCTGCCCTTGCCCCTCTTGATCTCCGGTTTCCACTCTGGAGGTATGGGACATTGGTCTCTGACACCCCCTCAGCCTGGCCTGACCTGGTCCTGGTTAATAAGACAGACCCAGGCTAGGCGTGGTGGCTGTCGCCTGTAATCCCAGTGCTTTAGGAGGCAAAGGTGGGAAGATCGCTTGAGCCCAGCTGTTTGAGACGCCCCTGAGCAACATAGCGAGACCCCCATCTCTACAAAAACATTAAAAATTAGCAGGGCATGGTGGCGTGTGCCTGCAGTCTGAGGCTGAGTATCGGGAGGCTGAGGCAGGAGGATCACTTGAGCCCAGCAGTTCCAGGCTGCAGTGCGCTAAGATCGCACCGCTGCACTCCAACCTCGGTGACAGAGCCAGACCCTTTCTCTGGAAATAAATAAATACCCTGCCCACATGCTCAGCCCAGAACAGCACCTAGTAGGTGCTCAGAAATTTTTTTGTTGTTGAAAGAAAGAGGATGGCAAAGGAGTGCTGAGGTTCCTATAGGTCAGCAGGTGCCGGCCATCCCTTCTGCAGGTTCTCCCACCCACCGCCTTCTTCACTCCACTCTGCAGGCTTTATGACTCCGGCAGAACACAAGCAGTTGGAGAAACTGAGCCTACCACACAACATGTTCTGGGTGCCCTGGGTGTGGTTTGCCAACCTGTCAATGAAGGCGTGGCTTGGAGGTCGAATCCGGGACCCTATCCTGCTCCAGAGCCTGCTGAACGTGAGCCCACTGTACAGACAGGGCTGCCGCAGAGTGGGAAGGGCTGTGGTCCACAGGAAACAAGGTTTCCTACAAAGAGAAGCCTTGGGCCCCTGAGGGTCTTCCGAGAGCCTGAGGTGGGGTTGCAGAATCTTTTCCAACAGCAATCCACAGCCCGAGGTGGTCCCTTCTCAGAGGCCCCTCCCTCTTCTCCAAGTCTGTGAGGTCCTGGTTCCCTTTTGATAGATGAGGAAGCTGAGACACAAAGAGGTTTAGTGAGCTTCCCATGGCCACACAGCCAGGAATGGACCATAGGTACCAGGCCCTGGTACCTGGAGAAGAGGTGGGGGCGAGCCCAGGGTGGGGGCAGGTGGTGTTCAGAACCCCATCCCCCTCTTCTGCCCCCCAGGAGATGAACACCTTGGGTACTCAGTGTGGACACCTGTATGCCTACGACTGGATTAGTATCCCACTGGTGTATACACAGGTGAGGACTAGGCTGGTGAGGCTGCCCTTTTGGGAAACTGAGGCTAGAAGGACCAAGGAAGCAGCTGGGGTGGGAAGGGCTCACCTAGAGGCTAAGTGGCTCCCCTGGGAGTTGGGTCCACACTTTGAAGTTGGGTCTGGACTTTGAAGTGCCAAGTTCTAAGAGTCCAGGCTCCTGCCTGGCCCAGTCCAGTAGAGGCAATGTGATTATCCCCATATTAAAGAGAGGTTGGCCGGGTGCAGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAAGCTGAGGCAGGTGGATCACCTGAGGTCAGGAGTTCGAGACCAGCCTGGCCAACATGGTGAAACCCCATCTCTACTGAAAATACAGAATTAGCTGTGTGGTGGTGCACGCCTGTAATCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATCGCTTGAACCCGGGAGGTGGAGGTTGCAGTGAGCTGAGATCATGCCACTGCACTCCAGCCTGGGCGACACAGCAAGACTCTGTCTCAAACAAACAAACAAACAAACAAACAAAGGGGTTAACAGAGCCCCTAAGTCACATAAGTGTGCAAGTCAGAACAAGGCCTTGGTCTCCTGTCTCAGACTCCCAGCCCCTGGAGCATCCTGATTTCAGGGTTCCCACCTAGCCCTTTGCTACCACATCCTCCTCCTCCTCCCAGGTGGTGACTGTGGCGGTGTACAGCTTCTTCCTGACTTGTCTAGTTGGGCGGCAGTTTCTGAACCCAGCCAAGGCCTACCCTGGCCATGAGCTGGACCTCGTTGTGCCCGTCTTCACGTTCCTGCAGTTCTTCTTCTATGTTGGCTGGCTGAAGGTGGGCCTCTCCAGGGCCCTGCTGGGCTGGAGGCATGGCCAGAGGGGTCATGGCCAGCAGCTGCCTGAGACGAGGATGCAGTGTCAGGAAAGGAAGGTCTCACGGGTAGAAAGCAGCCAGGCGTGGTGGCGCACACCTGTAATCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATCGCTTGAACCCGGGAGGCGGAGGTTGTGGTGAGTTGAGATCGTGCCACTGCACTCCAGCCTGGGCAAAAGAATGAAACTCTATCTCAAAAACAACAACAACAACAAAACAAAGCCCTAAGGTTCAGAAGCCCCTGCCCTTTAGAAGGCAGATCGGCACCACCTCTCCTTATTCAAGATGCCTGTTGGGCTGTCTTGTTCCTCACCTCAAGTGGCTTGTCCAGGTATTCCCTCCCACCACAGCCAATACTCCGAACAGATGTTCTGAATCACACAGTTTTCTCTCCACCTCTTTATCTTTCCTTCCTTCTGTTGCCCACCCACTCTCTCTCCCTTCCTACCTTCCTTTATTTTTTGGTAATGGGGGTGTAAGTCTCTGTCTCTGCCCTTCCTGTCACTGTGACACACACACACACACACACACACACACACACATACACACACACACACACGCATTCCTATTCCTCTAAATTCCCCCTGCCCCCCCAGTTATCTTTGGTTTCTGCAGATCAAAACAAATCACACTTTTATGCTTGAAATTCTCCGGGGTGCCCCAGTGGCCTGCAAGATGTCCCCTGGACCCCTAAGGCAGACGCGTGTCACCTCTTCGGGGCTTTGTTAGGGCATTTTAGAGGTTGCTATCCAGGAATCTGCCCACCTAGACTGCCCTTTAGTTCAGCCCAGCTTCAGTATATATCTCTGTTGCATGAATGAATAAAATTATGCAACTCCAGGTAAGATACATGAGGTGAGATAAAGGCAGTGACTCAGCCGAGTGATACACTCAGGGACAGCTGTGGGTGTTCAGGGAAGGACTGGCTCAGAAGAGTTAGAGGGGCTGTGTCCAGAAGTGTGTGGGTGCCCACAAGTGTGGGGGGCTGGAGCCCTAAACTCTGCCTTTGAAGACAGTGGTCAGGCAGGAAGGGCGTCATGGGGTGTGGAAATAGCAGCAGCTGAGGTTTAAAGGGGGAAGCTGGC
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Task1_train_15916
|
This sequence variant lies in BEST1 (bestrophin 1) on Chromosome 11. Is it clinically significant, and what condition might it cause if any?
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Pathogenic; not provided
|
GTGAAACTGAAGTTAGACGTTAGGTAAGACGTCCTGCCGTTAGCAATGAAAACCCCATTTTCTGAGGGAAGCGCTGACATCATGGTCCCTGGAGCCCCTGCGCGGGAGGGGAGGGGGTCTGGCGGATTTCTGGGACCAGCAGGGGGACCCCCGGGTGACAGAACCCTTGGGGCTCTCGCGCCTCCATGCGAGGCTCTGCCTGCCTCTCGCTCCCGAGCGCCTTCCAGGAGGGCTGGGGGCTAGGCCCGCTCGCAGCAGAAAGCTGGAGGAGCCGAGGCATCGCCGGGCGCTGGGCCCTGGGCTCTGGCCGCAGCCTGGCCCCTCGCCCCTCGCCCCCCGCCCCTCCTGCCCAGGCTTCTACGTGACGCTGGTCGTGACCCGCTGGTGGAACCAGTACGAGAACCTGCCGTGGCCCGACCGCCTCATGAGCCTGGTGTCGGGCTTCGTCGAAGGCAAGGACGAGCAAGGCCGGCTGCTGCGGCGCACGCTCATCCGCTACGCCAACCTGGGCAACGTGCTCATCCTGCGCAGCGTCAGCACCGCAGTCTACAAGCGCTTCCCCAGCGCCCAGCACCTGGTGCAAGCAGGTGGGCGGACCGGGAGCAACGGGGAGGCACCGGGCAGAGCCAGGGGCCGAGATGGGCGCGGCAGGAATGGAAGATGGGTGGAGCCAAAGTCCCCCGGACTCGGGGGATTGGGTGGAGCCAGGAGTGGGGTGTAGTCAAGATTTGGGGGTCCAATTGGGCGGGACAGAGTCGGGTGTCTGAAGGTGGGGCGAGGCCAGGAGCCCACCCTCCGAGAGTAGGAGTCTGAGGCAGGGCTAAGGACCCTTGAGGGATAATGGAAAGAAGGGTGACGGCTTGGGAACTGGTGAGGTACTAGGGTCTACTTCCCTCTGCCCTTGCCCCTCTTGATCTCCGGTTTCCACTCTGGAGGTATGGGACATTGGTCTCTGACACCCCCTCAGCCTGGCCTGACCTGGTCCTGGTTAATAAGACAGACCCAGGCTAGGCGTGGTGGCTGTCGCCTGTAATCCCAGTGCTTTAGGAGGCAAAGGTGGGAAGATCGCTTGAGCCCAGCTGTTTGAGACGCCCCTGAGCAACATAGCGAGACCCCCATCTCTACAAAAACATTAAAAATTAGCAGGGCATGGTGGCGTGTGCCTGCAGTCTGAGGCTGAGTATCGGGAGGCTGAGGCAGGAGGATCACTTGAGCCCAGCAGTTCCAGGCTGCAGTGCGCTAAGATCGCACCGCTGCACTCCAACCTCGGTGACAGAGCCAGACCCTTTCTCTGGAAATAAATAAATACCCTGCCCACATGCTCAGCCCAGAACAGCACCTAGTAGGTGCTCAGAAATTTTTTTGTTGTTGAAAGAAAGAGGATGGCAAAGGAGTGCTGAGGTTCCTATAGGTCAGCAGGTGCCGGCCATCCCTTCTGCAGGTTCTCCCACCCACCGCCTTCTTCACTCCACTCTGCAGGCTTTATGACTCCGGCAGAACACAAGCAGTTGGAGAAACTGAGCCTACCACACAACATGTTCTGGGTGCCCTGGGTGTGGTTTGCCAACCTGTCAATGAAGGCGTGGCTTGGAGGTCGAATCCGGGACCCTATCCTGCTCCAGAGCCTGCTGAACGTGAGCCCACTGTACAGACAGGGCTGCCGCAGAGTGGGAAGGGCTGTGGTCCACAGGAAACAAGGTTTCCTACAAAGAGAAGCCTTGGGCCCCTGAGGGTCTTCCGAGAGCCTGAGGTGGGGTTGCAGAATCTTTTCCAACAGCAATCCACAGCCCGAGGTGGTCCCTTCTCAGAGGCCCCTCCCTCTTCTCCAAGTCTGTGAGGTCCTGGTTCCCTTTTGATAGATGAGGAAGCTGAGACACAAAGAGGTTTAGTGAGCTTCCCATGGCCACACAGCCAGGAATGGACCATAGGTACCAGGCCCTGGTACCTGGAGAAGAGGTGGGGGCGAGCCCAGGGTGGGGGCAGGTGGTGTTCAGAACCCCATCCCCCTCTTCTGCCCCCCAGGAGATGAACACCTTGCGTACTCAGTGTGGACACCTGTATGCCTACGACTGGATTAGTATCCCACTGGTGTATACACAGGTGAGGACTAGGCTGGTGAGGCTGCCCTTTTGGGAAACTGAGGCTAGAAGGACCAAGGAAGCAGCTGGGGTGGGAAGGGCTCACCTAGAGGCTAAGTGGCTCCCCTGGGAGTTGGGTCCACACTTTGAAGTTGGGTCTGGACTTTGAAGTGCCAAGTTCTAAGAGTCCAGGCTCCTGCCTGGCCCAGTCCAGTAGAGGCAATGTGATTATCCCCATATTAAAGAGAGGTTGGCCGGGTGCAGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAAGCTGAGGCAGGTGGATCACCTGAGGTCAGGAGTTCGAGACCAGCCTGGCCAACATGGTGAAACCCCATCTCTACTGAAAATACAGAATTAGCTGTGTGGTGGTGCACGCCTGTAATCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATCGCTTGAACCCGGGAGGTGGAGGTTGCAGTGAGCTGAGATCATGCCACTGCACTCCAGCCTGGGCGACACAGCAAGACTCTGTCTCAAACAAACAAACAAACAAACAAACAAAGGGGTTAACAGAGCCCCTAAGTCACATAAGTGTGCAAGTCAGAACAAGGCCTTGGTCTCCTGTCTCAGACTCCCAGCCCCTGGAGCATCCTGATTTCAGGGTTCCCACCTAGCCCTTTGCTACCACATCCTCCTCCTCCTCCCAGGTGGTGACTGTGGCGGTGTACAGCTTCTTCCTGACTTGTCTAGTTGGGCGGCAGTTTCTGAACCCAGCCAAGGCCTACCCTGGCCATGAGCTGGACCTCGTTGTGCCCGTCTTCACGTTCCTGCAGTTCTTCTTCTATGTTGGCTGGCTGAAGGTGGGCCTCTCCAGGGCCCTGCTGGGCTGGAGGCATGGCCAGAGGGGTCATGGCCAGCAGCTGCCTGAGACGAGGATGCAGTGTCAGGAAAGGAAGGTCTCACGGGTAGAAAGCAGCCAGGCGTGGTGGCGCACACCTGTAATCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATCGCTTGAACCCGGGAGGCGGAGGTTGTGGTGAGTTGAGATCGTGCCACTGCACTCCAGCCTGGGCAAAAGAATGAAACTCTATCTCAAAAACAACAACAACAACAAAACAAAGCCCTAAGGTTCAGAAGCCCCTGCCCTTTAGAAGGCAGATCGGCACCACCTCTCCTTATTCAAGATGCCTGTTGGGCTGTCTTGTTCCTCACCTCAAGTGGCTTGTCCAGGTATTCCCTCCCACCACAGCCAATACTCCGAACAGATGTTCTGAATCACACAGTTTTCTCTCCACCTCTTTATCTTTCCTTCCTTCTGTTGCCCACCCACTCTCTCTCCCTTCCTACCTTCCTTTATTTTTTGGTAATGGGGGTGTAAGTCTCTGTCTCTGCCCTTCCTGTCACTGTGACACACACACACACACACACACACACACACACATACACACACACACACACGCATTCCTATTCCTCTAAATTCCCCCTGCCCCCCCAGTTATCTTTGGTTTCTGCAGATCAAAACAAATCACACTTTTATGCTTGAAATTCTCCGGGGTGCCCCAGTGGCCTGCAAGATGTCCCCTGGACCCCTAAGGCAGACGCGTGTCACCTCTTCGGGGCTTTGTTAGGGCATTTTAGAGGTTGCTATCCAGGAATCTGCCCACCTAGACTGCCCTTTAGTTCAGCCCAGCTTCAGTATATATCTCTGTTGCATGAATGAATAAAATTATGCAACTCCAGGTAAGATACATGAGGTGAGATAAAGGCAGTGACTCAGCCGAGTGATACACTCAGGGACAGCTGTGGGTGTTCAGGGAAGGACTGGCTCAGAAGAGTTAGAGGGGCTGTGTCCAGAAGTGTGTGGGTGCCCACAAGTGTGGGGGGCTGGAGCCCTAAACTCTGCCTTTGAAGACAGTGGTCAGGCAGGAAGGGCGTCATGGGGTGTGGAAATAGCAGCAGCTGAGGTTTAAAGGGGGAAGCTGGCTTTGAGGAGTT
|
GTGAAACTGAAGTTAGACGTTAGGTAAGACGTCCTGCCGTTAGCAATGAAAACCCCATTTTCTGAGGGAAGCGCTGACATCATGGTCCCTGGAGCCCCTGCGCGGGAGGGGAGGGGGTCTGGCGGATTTCTGGGACCAGCAGGGGGACCCCCGGGTGACAGAACCCTTGGGGCTCTCGCGCCTCCATGCGAGGCTCTGCCTGCCTCTCGCTCCCGAGCGCCTTCCAGGAGGGCTGGGGGCTAGGCCCGCTCGCAGCAGAAAGCTGGAGGAGCCGAGGCATCGCCGGGCGCTGGGCCCTGGGCTCTGGCCGCAGCCTGGCCCCTCGCCCCTCGCCCCCCGCCCCTCCTGCCCAGGCTTCTACGTGACGCTGGTCGTGACCCGCTGGTGGAACCAGTACGAGAACCTGCCGTGGCCCGACCGCCTCATGAGCCTGGTGTCGGGCTTCGTCGAAGGCAAGGACGAGCAAGGCCGGCTGCTGCGGCGCACGCTCATCCGCTACGCCAACCTGGGCAACGTGCTCATCCTGCGCAGCGTCAGCACCGCAGTCTACAAGCGCTTCCCCAGCGCCCAGCACCTGGTGCAAGCAGGTGGGCGGACCGGGAGCAACGGGGAGGCACCGGGCAGAGCCAGGGGCCGAGATGGGCGCGGCAGGAATGGAAGATGGGTGGAGCCAAAGTCCCCCGGACTCGGGGGATTGGGTGGAGCCAGGAGTGGGGTGTAGTCAAGATTTGGGGGTCCAATTGGGCGGGACAGAGTCGGGTGTCTGAAGGTGGGGCGAGGCCAGGAGCCCACCCTCCGAGAGTAGGAGTCTGAGGCAGGGCTAAGGACCCTTGAGGGATAATGGAAAGAAGGGTGACGGCTTGGGAACTGGTGAGGTACTAGGGTCTACTTCCCTCTGCCCTTGCCCCTCTTGATCTCCGGTTTCCACTCTGGAGGTATGGGACATTGGTCTCTGACACCCCCTCAGCCTGGCCTGACCTGGTCCTGGTTAATAAGACAGACCCAGGCTAGGCGTGGTGGCTGTCGCCTGTAATCCCAGTGCTTTAGGAGGCAAAGGTGGGAAGATCGCTTGAGCCCAGCTGTTTGAGACGCCCCTGAGCAACATAGCGAGACCCCCATCTCTACAAAAACATTAAAAATTAGCAGGGCATGGTGGCGTGTGCCTGCAGTCTGAGGCTGAGTATCGGGAGGCTGAGGCAGGAGGATCACTTGAGCCCAGCAGTTCCAGGCTGCAGTGCGCTAAGATCGCACCGCTGCACTCCAACCTCGGTGACAGAGCCAGACCCTTTCTCTGGAAATAAATAAATACCCTGCCCACATGCTCAGCCCAGAACAGCACCTAGTAGGTGCTCAGAAATTTTTTTGTTGTTGAAAGAAAGAGGATGGCAAAGGAGTGCTGAGGTTCCTATAGGTCAGCAGGTGCCGGCCATCCCTTCTGCAGGTTCTCCCACCCACCGCCTTCTTCACTCCACTCTGCAGGCTTTATGACTCCGGCAGAACACAAGCAGTTGGAGAAACTGAGCCTACCACACAACATGTTCTGGGTGCCCTGGGTGTGGTTTGCCAACCTGTCAATGAAGGCGTGGCTTGGAGGTCGAATCCGGGACCCTATCCTGCTCCAGAGCCTGCTGAACGTGAGCCCACTGTACAGACAGGGCTGCCGCAGAGTGGGAAGGGCTGTGGTCCACAGGAAACAAGGTTTCCTACAAAGAGAAGCCTTGGGCCCCTGAGGGTCTTCCGAGAGCCTGAGGTGGGGTTGCAGAATCTTTTCCAACAGCAATCCACAGCCCGAGGTGGTCCCTTCTCAGAGGCCCCTCCCTCTTCTCCAAGTCTGTGAGGTCCTGGTTCCCTTTTGATAGATGAGGAAGCTGAGACACAAAGAGGTTTAGTGAGCTTCCCATGGCCACACAGCCAGGAATGGACCATAGGTACCAGGCCCTGGTACCTGGAGAAGAGGTGGGGGCGAGCCCAGGGTGGGGGCAGGTGGTGTTCAGAACCCCATCCCCCTCTTCTGCCCCCCAGGAGATGAACACCTTGCGTACTCAGTGGGGACACCTGTATGCCTACGACTGGATTAGTATCCCACTGGTGTATACACAGGTGAGGACTAGGCTGGTGAGGCTGCCCTTTTGGGAAACTGAGGCTAGAAGGACCAAGGAAGCAGCTGGGGTGGGAAGGGCTCACCTAGAGGCTAAGTGGCTCCCCTGGGAGTTGGGTCCACACTTTGAAGTTGGGTCTGGACTTTGAAGTGCCAAGTTCTAAGAGTCCAGGCTCCTGCCTGGCCCAGTCCAGTAGAGGCAATGTGATTATCCCCATATTAAAGAGAGGTTGGCCGGGTGCAGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAAGCTGAGGCAGGTGGATCACCTGAGGTCAGGAGTTCGAGACCAGCCTGGCCAACATGGTGAAACCCCATCTCTACTGAAAATACAGAATTAGCTGTGTGGTGGTGCACGCCTGTAATCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATCGCTTGAACCCGGGAGGTGGAGGTTGCAGTGAGCTGAGATCATGCCACTGCACTCCAGCCTGGGCGACACAGCAAGACTCTGTCTCAAACAAACAAACAAACAAACAAACAAAGGGGTTAACAGAGCCCCTAAGTCACATAAGTGTGCAAGTCAGAACAAGGCCTTGGTCTCCTGTCTCAGACTCCCAGCCCCTGGAGCATCCTGATTTCAGGGTTCCCACCTAGCCCTTTGCTACCACATCCTCCTCCTCCTCCCAGGTGGTGACTGTGGCGGTGTACAGCTTCTTCCTGACTTGTCTAGTTGGGCGGCAGTTTCTGAACCCAGCCAAGGCCTACCCTGGCCATGAGCTGGACCTCGTTGTGCCCGTCTTCACGTTCCTGCAGTTCTTCTTCTATGTTGGCTGGCTGAAGGTGGGCCTCTCCAGGGCCCTGCTGGGCTGGAGGCATGGCCAGAGGGGTCATGGCCAGCAGCTGCCTGAGACGAGGATGCAGTGTCAGGAAAGGAAGGTCTCACGGGTAGAAAGCAGCCAGGCGTGGTGGCGCACACCTGTAATCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATCGCTTGAACCCGGGAGGCGGAGGTTGTGGTGAGTTGAGATCGTGCCACTGCACTCCAGCCTGGGCAAAAGAATGAAACTCTATCTCAAAAACAACAACAACAACAAAACAAAGCCCTAAGGTTCAGAAGCCCCTGCCCTTTAGAAGGCAGATCGGCACCACCTCTCCTTATTCAAGATGCCTGTTGGGCTGTCTTGTTCCTCACCTCAAGTGGCTTGTCCAGGTATTCCCTCCCACCACAGCCAATACTCCGAACAGATGTTCTGAATCACACAGTTTTCTCTCCACCTCTTTATCTTTCCTTCCTTCTGTTGCCCACCCACTCTCTCTCCCTTCCTACCTTCCTTTATTTTTTGGTAATGGGGGTGTAAGTCTCTGTCTCTGCCCTTCCTGTCACTGTGACACACACACACACACACACACACACACACACATACACACACACACACACGCATTCCTATTCCTCTAAATTCCCCCTGCCCCCCCAGTTATCTTTGGTTTCTGCAGATCAAAACAAATCACACTTTTATGCTTGAAATTCTCCGGGGTGCCCCAGTGGCCTGCAAGATGTCCCCTGGACCCCTAAGGCAGACGCGTGTCACCTCTTCGGGGCTTTGTTAGGGCATTTTAGAGGTTGCTATCCAGGAATCTGCCCACCTAGACTGCCCTTTAGTTCAGCCCAGCTTCAGTATATATCTCTGTTGCATGAATGAATAAAATTATGCAACTCCAGGTAAGATACATGAGGTGAGATAAAGGCAGTGACTCAGCCGAGTGATACACTCAGGGACAGCTGTGGGTGTTCAGGGAAGGACTGGCTCAGAAGAGTTAGAGGGGCTGTGTCCAGAAGTGTGTGGGTGCCCACAAGTGTGGGGGGCTGGAGCCCTAAACTCTGCCTTTGAAGACAGTGGTCAGGCAGGAAGGGCGTCATGGGGTGTGGAAATAGCAGCAGCTGAGGTTTAAAGGGGGAAGCTGGCTTTGAGGAGTT
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Task1_train_15917
|
A variant was discovered in gene BEST1 (bestrophin 1), Chromosome 11. Please indicate if this mutation results in a known disease or if it's non-harmful.
|
Pathogenic; not provided
|
GAAGTTAGACGTTAGGTAAGACGTCCTGCCGTTAGCAATGAAAACCCCATTTTCTGAGGGAAGCGCTGACATCATGGTCCCTGGAGCCCCTGCGCGGGAGGGGAGGGGGTCTGGCGGATTTCTGGGACCAGCAGGGGGACCCCCGGGTGACAGAACCCTTGGGGCTCTCGCGCCTCCATGCGAGGCTCTGCCTGCCTCTCGCTCCCGAGCGCCTTCCAGGAGGGCTGGGGGCTAGGCCCGCTCGCAGCAGAAAGCTGGAGGAGCCGAGGCATCGCCGGGCGCTGGGCCCTGGGCTCTGGCCGCAGCCTGGCCCCTCGCCCCTCGCCCCCCGCCCCTCCTGCCCAGGCTTCTACGTGACGCTGGTCGTGACCCGCTGGTGGAACCAGTACGAGAACCTGCCGTGGCCCGACCGCCTCATGAGCCTGGTGTCGGGCTTCGTCGAAGGCAAGGACGAGCAAGGCCGGCTGCTGCGGCGCACGCTCATCCGCTACGCCAACCTGGGCAACGTGCTCATCCTGCGCAGCGTCAGCACCGCAGTCTACAAGCGCTTCCCCAGCGCCCAGCACCTGGTGCAAGCAGGTGGGCGGACCGGGAGCAACGGGGAGGCACCGGGCAGAGCCAGGGGCCGAGATGGGCGCGGCAGGAATGGAAGATGGGTGGAGCCAAAGTCCCCCGGACTCGGGGGATTGGGTGGAGCCAGGAGTGGGGTGTAGTCAAGATTTGGGGGTCCAATTGGGCGGGACAGAGTCGGGTGTCTGAAGGTGGGGCGAGGCCAGGAGCCCACCCTCCGAGAGTAGGAGTCTGAGGCAGGGCTAAGGACCCTTGAGGGATAATGGAAAGAAGGGTGACGGCTTGGGAACTGGTGAGGTACTAGGGTCTACTTCCCTCTGCCCTTGCCCCTCTTGATCTCCGGTTTCCACTCTGGAGGTATGGGACATTGGTCTCTGACACCCCCTCAGCCTGGCCTGACCTGGTCCTGGTTAATAAGACAGACCCAGGCTAGGCGTGGTGGCTGTCGCCTGTAATCCCAGTGCTTTAGGAGGCAAAGGTGGGAAGATCGCTTGAGCCCAGCTGTTTGAGACGCCCCTGAGCAACATAGCGAGACCCCCATCTCTACAAAAACATTAAAAATTAGCAGGGCATGGTGGCGTGTGCCTGCAGTCTGAGGCTGAGTATCGGGAGGCTGAGGCAGGAGGATCACTTGAGCCCAGCAGTTCCAGGCTGCAGTGCGCTAAGATCGCACCGCTGCACTCCAACCTCGGTGACAGAGCCAGACCCTTTCTCTGGAAATAAATAAATACCCTGCCCACATGCTCAGCCCAGAACAGCACCTAGTAGGTGCTCAGAAATTTTTTTGTTGTTGAAAGAAAGAGGATGGCAAAGGAGTGCTGAGGTTCCTATAGGTCAGCAGGTGCCGGCCATCCCTTCTGCAGGTTCTCCCACCCACCGCCTTCTTCACTCCACTCTGCAGGCTTTATGACTCCGGCAGAACACAAGCAGTTGGAGAAACTGAGCCTACCACACAACATGTTCTGGGTGCCCTGGGTGTGGTTTGCCAACCTGTCAATGAAGGCGTGGCTTGGAGGTCGAATCCGGGACCCTATCCTGCTCCAGAGCCTGCTGAACGTGAGCCCACTGTACAGACAGGGCTGCCGCAGAGTGGGAAGGGCTGTGGTCCACAGGAAACAAGGTTTCCTACAAAGAGAAGCCTTGGGCCCCTGAGGGTCTTCCGAGAGCCTGAGGTGGGGTTGCAGAATCTTTTCCAACAGCAATCCACAGCCCGAGGTGGTCCCTTCTCAGAGGCCCCTCCCTCTTCTCCAAGTCTGTGAGGTCCTGGTTCCCTTTTGATAGATGAGGAAGCTGAGACACAAAGAGGTTTAGTGAGCTTCCCATGGCCACACAGCCAGGAATGGACCATAGGTACCAGGCCCTGGTACCTGGAGAAGAGGTGGGGGCGAGCCCAGGGTGGGGGCAGGTGGTGTTCAGAACCCCATCCCCCTCTTCTGCCCCCCAGGAGATGAACACCTTGCGTACTCAGTGTGGACACCTGTATGCCTACGACTGGATTAGTATCCCACTGGTGTATACACAGGTGAGGACTAGGCTGGTGAGGCTGCCCTTTTGGGAAACTGAGGCTAGAAGGACCAAGGAAGCAGCTGGGGTGGGAAGGGCTCACCTAGAGGCTAAGTGGCTCCCCTGGGAGTTGGGTCCACACTTTGAAGTTGGGTCTGGACTTTGAAGTGCCAAGTTCTAAGAGTCCAGGCTCCTGCCTGGCCCAGTCCAGTAGAGGCAATGTGATTATCCCCATATTAAAGAGAGGTTGGCCGGGTGCAGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAAGCTGAGGCAGGTGGATCACCTGAGGTCAGGAGTTCGAGACCAGCCTGGCCAACATGGTGAAACCCCATCTCTACTGAAAATACAGAATTAGCTGTGTGGTGGTGCACGCCTGTAATCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATCGCTTGAACCCGGGAGGTGGAGGTTGCAGTGAGCTGAGATCATGCCACTGCACTCCAGCCTGGGCGACACAGCAAGACTCTGTCTCAAACAAACAAACAAACAAACAAACAAAGGGGTTAACAGAGCCCCTAAGTCACATAAGTGTGCAAGTCAGAACAAGGCCTTGGTCTCCTGTCTCAGACTCCCAGCCCCTGGAGCATCCTGATTTCAGGGTTCCCACCTAGCCCTTTGCTACCACATCCTCCTCCTCCTCCCAGGTGGTGACTGTGGCGGTGTACAGCTTCTTCCTGACTTGTCTAGTTGGGCGGCAGTTTCTGAACCCAGCCAAGGCCTACCCTGGCCATGAGCTGGACCTCGTTGTGCCCGTCTTCACGTTCCTGCAGTTCTTCTTCTATGTTGGCTGGCTGAAGGTGGGCCTCTCCAGGGCCCTGCTGGGCTGGAGGCATGGCCAGAGGGGTCATGGCCAGCAGCTGCCTGAGACGAGGATGCAGTGTCAGGAAAGGAAGGTCTCACGGGTAGAAAGCAGCCAGGCGTGGTGGCGCACACCTGTAATCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATCGCTTGAACCCGGGAGGCGGAGGTTGTGGTGAGTTGAGATCGTGCCACTGCACTCCAGCCTGGGCAAAAGAATGAAACTCTATCTCAAAAACAACAACAACAACAAAACAAAGCCCTAAGGTTCAGAAGCCCCTGCCCTTTAGAAGGCAGATCGGCACCACCTCTCCTTATTCAAGATGCCTGTTGGGCTGTCTTGTTCCTCACCTCAAGTGGCTTGTCCAGGTATTCCCTCCCACCACAGCCAATACTCCGAACAGATGTTCTGAATCACACAGTTTTCTCTCCACCTCTTTATCTTTCCTTCCTTCTGTTGCCCACCCACTCTCTCTCCCTTCCTACCTTCCTTTATTTTTTGGTAATGGGGGTGTAAGTCTCTGTCTCTGCCCTTCCTGTCACTGTGACACACACACACACACACACACACACACACACATACACACACACACACACGCATTCCTATTCCTCTAAATTCCCCCTGCCCCCCCAGTTATCTTTGGTTTCTGCAGATCAAAACAAATCACACTTTTATGCTTGAAATTCTCCGGGGTGCCCCAGTGGCCTGCAAGATGTCCCCTGGACCCCTAAGGCAGACGCGTGTCACCTCTTCGGGGCTTTGTTAGGGCATTTTAGAGGTTGCTATCCAGGAATCTGCCCACCTAGACTGCCCTTTAGTTCAGCCCAGCTTCAGTATATATCTCTGTTGCATGAATGAATAAAATTATGCAACTCCAGGTAAGATACATGAGGTGAGATAAAGGCAGTGACTCAGCCGAGTGATACACTCAGGGACAGCTGTGGGTGTTCAGGGAAGGACTGGCTCAGAAGAGTTAGAGGGGCTGTGTCCAGAAGTGTGTGGGTGCCCACAAGTGTGGGGGGCTGGAGCCCTAAACTCTGCCTTTGAAGACAGTGGTCAGGCAGGAAGGGCGTCATGGGGTGTGGAAATAGCAGCAGCTGAGGTTTAAAGGGGGAAGCTGGCTTTGAGGAGTTCTGCCTGA
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GAAGTTAGACGTTAGGTAAGACGTCCTGCCGTTAGCAATGAAAACCCCATTTTCTGAGGGAAGCGCTGACATCATGGTCCCTGGAGCCCCTGCGCGGGAGGGGAGGGGGTCTGGCGGATTTCTGGGACCAGCAGGGGGACCCCCGGGTGACAGAACCCTTGGGGCTCTCGCGCCTCCATGCGAGGCTCTGCCTGCCTCTCGCTCCCGAGCGCCTTCCAGGAGGGCTGGGGGCTAGGCCCGCTCGCAGCAGAAAGCTGGAGGAGCCGAGGCATCGCCGGGCGCTGGGCCCTGGGCTCTGGCCGCAGCCTGGCCCCTCGCCCCTCGCCCCCCGCCCCTCCTGCCCAGGCTTCTACGTGACGCTGGTCGTGACCCGCTGGTGGAACCAGTACGAGAACCTGCCGTGGCCCGACCGCCTCATGAGCCTGGTGTCGGGCTTCGTCGAAGGCAAGGACGAGCAAGGCCGGCTGCTGCGGCGCACGCTCATCCGCTACGCCAACCTGGGCAACGTGCTCATCCTGCGCAGCGTCAGCACCGCAGTCTACAAGCGCTTCCCCAGCGCCCAGCACCTGGTGCAAGCAGGTGGGCGGACCGGGAGCAACGGGGAGGCACCGGGCAGAGCCAGGGGCCGAGATGGGCGCGGCAGGAATGGAAGATGGGTGGAGCCAAAGTCCCCCGGACTCGGGGGATTGGGTGGAGCCAGGAGTGGGGTGTAGTCAAGATTTGGGGGTCCAATTGGGCGGGACAGAGTCGGGTGTCTGAAGGTGGGGCGAGGCCAGGAGCCCACCCTCCGAGAGTAGGAGTCTGAGGCAGGGCTAAGGACCCTTGAGGGATAATGGAAAGAAGGGTGACGGCTTGGGAACTGGTGAGGTACTAGGGTCTACTTCCCTCTGCCCTTGCCCCTCTTGATCTCCGGTTTCCACTCTGGAGGTATGGGACATTGGTCTCTGACACCCCCTCAGCCTGGCCTGACCTGGTCCTGGTTAATAAGACAGACCCAGGCTAGGCGTGGTGGCTGTCGCCTGTAATCCCAGTGCTTTAGGAGGCAAAGGTGGGAAGATCGCTTGAGCCCAGCTGTTTGAGACGCCCCTGAGCAACATAGCGAGACCCCCATCTCTACAAAAACATTAAAAATTAGCAGGGCATGGTGGCGTGTGCCTGCAGTCTGAGGCTGAGTATCGGGAGGCTGAGGCAGGAGGATCACTTGAGCCCAGCAGTTCCAGGCTGCAGTGCGCTAAGATCGCACCGCTGCACTCCAACCTCGGTGACAGAGCCAGACCCTTTCTCTGGAAATAAATAAATACCCTGCCCACATGCTCAGCCCAGAACAGCACCTAGTAGGTGCTCAGAAATTTTTTTGTTGTTGAAAGAAAGAGGATGGCAAAGGAGTGCTGAGGTTCCTATAGGTCAGCAGGTGCCGGCCATCCCTTCTGCAGGTTCTCCCACCCACCGCCTTCTTCACTCCACTCTGCAGGCTTTATGACTCCGGCAGAACACAAGCAGTTGGAGAAACTGAGCCTACCACACAACATGTTCTGGGTGCCCTGGGTGTGGTTTGCCAACCTGTCAATGAAGGCGTGGCTTGGAGGTCGAATCCGGGACCCTATCCTGCTCCAGAGCCTGCTGAACGTGAGCCCACTGTACAGACAGGGCTGCCGCAGAGTGGGAAGGGCTGTGGTCCACAGGAAACAAGGTTTCCTACAAAGAGAAGCCTTGGGCCCCTGAGGGTCTTCCGAGAGCCTGAGGTGGGGTTGCAGAATCTTTTCCAACAGCAATCCACAGCCCGAGGTGGTCCCTTCTCAGAGGCCCCTCCCTCTTCTCCAAGTCTGTGAGGTCCTGGTTCCCTTTTGATAGATGAGGAAGCTGAGACACAAAGAGGTTTAGTGAGCTTCCCATGGCCACACAGCCAGGAATGGACCATAGGTACCAGGCCCTGGTACCTGGAGAAGAGGTGGGGGCGAGCCCAGGGTGGGGGCAGGTGGTGTTCAGAACCCCATCCCCCTCTTCTGCCCCCCAGGAGATGAACACCTTGCGTACTCAGTGTGGACACCCGTATGCCTACGACTGGATTAGTATCCCACTGGTGTATACACAGGTGAGGACTAGGCTGGTGAGGCTGCCCTTTTGGGAAACTGAGGCTAGAAGGACCAAGGAAGCAGCTGGGGTGGGAAGGGCTCACCTAGAGGCTAAGTGGCTCCCCTGGGAGTTGGGTCCACACTTTGAAGTTGGGTCTGGACTTTGAAGTGCCAAGTTCTAAGAGTCCAGGCTCCTGCCTGGCCCAGTCCAGTAGAGGCAATGTGATTATCCCCATATTAAAGAGAGGTTGGCCGGGTGCAGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAAGCTGAGGCAGGTGGATCACCTGAGGTCAGGAGTTCGAGACCAGCCTGGCCAACATGGTGAAACCCCATCTCTACTGAAAATACAGAATTAGCTGTGTGGTGGTGCACGCCTGTAATCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATCGCTTGAACCCGGGAGGTGGAGGTTGCAGTGAGCTGAGATCATGCCACTGCACTCCAGCCTGGGCGACACAGCAAGACTCTGTCTCAAACAAACAAACAAACAAACAAACAAAGGGGTTAACAGAGCCCCTAAGTCACATAAGTGTGCAAGTCAGAACAAGGCCTTGGTCTCCTGTCTCAGACTCCCAGCCCCTGGAGCATCCTGATTTCAGGGTTCCCACCTAGCCCTTTGCTACCACATCCTCCTCCTCCTCCCAGGTGGTGACTGTGGCGGTGTACAGCTTCTTCCTGACTTGTCTAGTTGGGCGGCAGTTTCTGAACCCAGCCAAGGCCTACCCTGGCCATGAGCTGGACCTCGTTGTGCCCGTCTTCACGTTCCTGCAGTTCTTCTTCTATGTTGGCTGGCTGAAGGTGGGCCTCTCCAGGGCCCTGCTGGGCTGGAGGCATGGCCAGAGGGGTCATGGCCAGCAGCTGCCTGAGACGAGGATGCAGTGTCAGGAAAGGAAGGTCTCACGGGTAGAAAGCAGCCAGGCGTGGTGGCGCACACCTGTAATCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATCGCTTGAACCCGGGAGGCGGAGGTTGTGGTGAGTTGAGATCGTGCCACTGCACTCCAGCCTGGGCAAAAGAATGAAACTCTATCTCAAAAACAACAACAACAACAAAACAAAGCCCTAAGGTTCAGAAGCCCCTGCCCTTTAGAAGGCAGATCGGCACCACCTCTCCTTATTCAAGATGCCTGTTGGGCTGTCTTGTTCCTCACCTCAAGTGGCTTGTCCAGGTATTCCCTCCCACCACAGCCAATACTCCGAACAGATGTTCTGAATCACACAGTTTTCTCTCCACCTCTTTATCTTTCCTTCCTTCTGTTGCCCACCCACTCTCTCTCCCTTCCTACCTTCCTTTATTTTTTGGTAATGGGGGTGTAAGTCTCTGTCTCTGCCCTTCCTGTCACTGTGACACACACACACACACACACACACACACACACATACACACACACACACACGCATTCCTATTCCTCTAAATTCCCCCTGCCCCCCCAGTTATCTTTGGTTTCTGCAGATCAAAACAAATCACACTTTTATGCTTGAAATTCTCCGGGGTGCCCCAGTGGCCTGCAAGATGTCCCCTGGACCCCTAAGGCAGACGCGTGTCACCTCTTCGGGGCTTTGTTAGGGCATTTTAGAGGTTGCTATCCAGGAATCTGCCCACCTAGACTGCCCTTTAGTTCAGCCCAGCTTCAGTATATATCTCTGTTGCATGAATGAATAAAATTATGCAACTCCAGGTAAGATACATGAGGTGAGATAAAGGCAGTGACTCAGCCGAGTGATACACTCAGGGACAGCTGTGGGTGTTCAGGGAAGGACTGGCTCAGAAGAGTTAGAGGGGCTGTGTCCAGAAGTGTGTGGGTGCCCACAAGTGTGGGGGGCTGGAGCCCTAAACTCTGCCTTTGAAGACAGTGGTCAGGCAGGAAGGGCGTCATGGGGTGTGGAAATAGCAGCAGCTGAGGTTTAAAGGGGGAAGCTGGCTTTGAGGAGTTCTGCCTGA
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Task1_train_15918
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A variant found in Chromosome 11 affects BEST1 (bestrophin 1). Please analyze its biological impact: is it benign or pathogenic, and what condition might it cause?
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Pathogenic; not provided
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GAAGTTAGACGTTAGGTAAGACGTCCTGCCGTTAGCAATGAAAACCCCATTTTCTGAGGGAAGCGCTGACATCATGGTCCCTGGAGCCCCTGCGCGGGAGGGGAGGGGGTCTGGCGGATTTCTGGGACCAGCAGGGGGACCCCCGGGTGACAGAACCCTTGGGGCTCTCGCGCCTCCATGCGAGGCTCTGCCTGCCTCTCGCTCCCGAGCGCCTTCCAGGAGGGCTGGGGGCTAGGCCCGCTCGCAGCAGAAAGCTGGAGGAGCCGAGGCATCGCCGGGCGCTGGGCCCTGGGCTCTGGCCGCAGCCTGGCCCCTCGCCCCTCGCCCCCCGCCCCTCCTGCCCAGGCTTCTACGTGACGCTGGTCGTGACCCGCTGGTGGAACCAGTACGAGAACCTGCCGTGGCCCGACCGCCTCATGAGCCTGGTGTCGGGCTTCGTCGAAGGCAAGGACGAGCAAGGCCGGCTGCTGCGGCGCACGCTCATCCGCTACGCCAACCTGGGCAACGTGCTCATCCTGCGCAGCGTCAGCACCGCAGTCTACAAGCGCTTCCCCAGCGCCCAGCACCTGGTGCAAGCAGGTGGGCGGACCGGGAGCAACGGGGAGGCACCGGGCAGAGCCAGGGGCCGAGATGGGCGCGGCAGGAATGGAAGATGGGTGGAGCCAAAGTCCCCCGGACTCGGGGGATTGGGTGGAGCCAGGAGTGGGGTGTAGTCAAGATTTGGGGGTCCAATTGGGCGGGACAGAGTCGGGTGTCTGAAGGTGGGGCGAGGCCAGGAGCCCACCCTCCGAGAGTAGGAGTCTGAGGCAGGGCTAAGGACCCTTGAGGGATAATGGAAAGAAGGGTGACGGCTTGGGAACTGGTGAGGTACTAGGGTCTACTTCCCTCTGCCCTTGCCCCTCTTGATCTCCGGTTTCCACTCTGGAGGTATGGGACATTGGTCTCTGACACCCCCTCAGCCTGGCCTGACCTGGTCCTGGTTAATAAGACAGACCCAGGCTAGGCGTGGTGGCTGTCGCCTGTAATCCCAGTGCTTTAGGAGGCAAAGGTGGGAAGATCGCTTGAGCCCAGCTGTTTGAGACGCCCCTGAGCAACATAGCGAGACCCCCATCTCTACAAAAACATTAAAAATTAGCAGGGCATGGTGGCGTGTGCCTGCAGTCTGAGGCTGAGTATCGGGAGGCTGAGGCAGGAGGATCACTTGAGCCCAGCAGTTCCAGGCTGCAGTGCGCTAAGATCGCACCGCTGCACTCCAACCTCGGTGACAGAGCCAGACCCTTTCTCTGGAAATAAATAAATACCCTGCCCACATGCTCAGCCCAGAACAGCACCTAGTAGGTGCTCAGAAATTTTTTTGTTGTTGAAAGAAAGAGGATGGCAAAGGAGTGCTGAGGTTCCTATAGGTCAGCAGGTGCCGGCCATCCCTTCTGCAGGTTCTCCCACCCACCGCCTTCTTCACTCCACTCTGCAGGCTTTATGACTCCGGCAGAACACAAGCAGTTGGAGAAACTGAGCCTACCACACAACATGTTCTGGGTGCCCTGGGTGTGGTTTGCCAACCTGTCAATGAAGGCGTGGCTTGGAGGTCGAATCCGGGACCCTATCCTGCTCCAGAGCCTGCTGAACGTGAGCCCACTGTACAGACAGGGCTGCCGCAGAGTGGGAAGGGCTGTGGTCCACAGGAAACAAGGTTTCCTACAAAGAGAAGCCTTGGGCCCCTGAGGGTCTTCCGAGAGCCTGAGGTGGGGTTGCAGAATCTTTTCCAACAGCAATCCACAGCCCGAGGTGGTCCCTTCTCAGAGGCCCCTCCCTCTTCTCCAAGTCTGTGAGGTCCTGGTTCCCTTTTGATAGATGAGGAAGCTGAGACACAAAGAGGTTTAGTGAGCTTCCCATGGCCACACAGCCAGGAATGGACCATAGGTACCAGGCCCTGGTACCTGGAGAAGAGGTGGGGGCGAGCCCAGGGTGGGGGCAGGTGGTGTTCAGAACCCCATCCCCCTCTTCTGCCCCCCAGGAGATGAACACCTTGCGTACTCAGTGTGGACACCTGTATGCCTACGACTGGATTAGTATCCCACTGGTGTATACACAGGTGAGGACTAGGCTGGTGAGGCTGCCCTTTTGGGAAACTGAGGCTAGAAGGACCAAGGAAGCAGCTGGGGTGGGAAGGGCTCACCTAGAGGCTAAGTGGCTCCCCTGGGAGTTGGGTCCACACTTTGAAGTTGGGTCTGGACTTTGAAGTGCCAAGTTCTAAGAGTCCAGGCTCCTGCCTGGCCCAGTCCAGTAGAGGCAATGTGATTATCCCCATATTAAAGAGAGGTTGGCCGGGTGCAGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAAGCTGAGGCAGGTGGATCACCTGAGGTCAGGAGTTCGAGACCAGCCTGGCCAACATGGTGAAACCCCATCTCTACTGAAAATACAGAATTAGCTGTGTGGTGGTGCACGCCTGTAATCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATCGCTTGAACCCGGGAGGTGGAGGTTGCAGTGAGCTGAGATCATGCCACTGCACTCCAGCCTGGGCGACACAGCAAGACTCTGTCTCAAACAAACAAACAAACAAACAAACAAAGGGGTTAACAGAGCCCCTAAGTCACATAAGTGTGCAAGTCAGAACAAGGCCTTGGTCTCCTGTCTCAGACTCCCAGCCCCTGGAGCATCCTGATTTCAGGGTTCCCACCTAGCCCTTTGCTACCACATCCTCCTCCTCCTCCCAGGTGGTGACTGTGGCGGTGTACAGCTTCTTCCTGACTTGTCTAGTTGGGCGGCAGTTTCTGAACCCAGCCAAGGCCTACCCTGGCCATGAGCTGGACCTCGTTGTGCCCGTCTTCACGTTCCTGCAGTTCTTCTTCTATGTTGGCTGGCTGAAGGTGGGCCTCTCCAGGGCCCTGCTGGGCTGGAGGCATGGCCAGAGGGGTCATGGCCAGCAGCTGCCTGAGACGAGGATGCAGTGTCAGGAAAGGAAGGTCTCACGGGTAGAAAGCAGCCAGGCGTGGTGGCGCACACCTGTAATCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATCGCTTGAACCCGGGAGGCGGAGGTTGTGGTGAGTTGAGATCGTGCCACTGCACTCCAGCCTGGGCAAAAGAATGAAACTCTATCTCAAAAACAACAACAACAACAAAACAAAGCCCTAAGGTTCAGAAGCCCCTGCCCTTTAGAAGGCAGATCGGCACCACCTCTCCTTATTCAAGATGCCTGTTGGGCTGTCTTGTTCCTCACCTCAAGTGGCTTGTCCAGGTATTCCCTCCCACCACAGCCAATACTCCGAACAGATGTTCTGAATCACACAGTTTTCTCTCCACCTCTTTATCTTTCCTTCCTTCTGTTGCCCACCCACTCTCTCTCCCTTCCTACCTTCCTTTATTTTTTGGTAATGGGGGTGTAAGTCTCTGTCTCTGCCCTTCCTGTCACTGTGACACACACACACACACACACACACACACACACATACACACACACACACACGCATTCCTATTCCTCTAAATTCCCCCTGCCCCCCCAGTTATCTTTGGTTTCTGCAGATCAAAACAAATCACACTTTTATGCTTGAAATTCTCCGGGGTGCCCCAGTGGCCTGCAAGATGTCCCCTGGACCCCTAAGGCAGACGCGTGTCACCTCTTCGGGGCTTTGTTAGGGCATTTTAGAGGTTGCTATCCAGGAATCTGCCCACCTAGACTGCCCTTTAGTTCAGCCCAGCTTCAGTATATATCTCTGTTGCATGAATGAATAAAATTATGCAACTCCAGGTAAGATACATGAGGTGAGATAAAGGCAGTGACTCAGCCGAGTGATACACTCAGGGACAGCTGTGGGTGTTCAGGGAAGGACTGGCTCAGAAGAGTTAGAGGGGCTGTGTCCAGAAGTGTGTGGGTGCCCACAAGTGTGGGGGGCTGGAGCCCTAAACTCTGCCTTTGAAGACAGTGGTCAGGCAGGAAGGGCGTCATGGGGTGTGGAAATAGCAGCAGCTGAGGTTTAAAGGGGGAAGCTGGCTTTGAGGAGTTCTGCCTGA
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GAAGTTAGACGTTAGGTAAGACGTCCTGCCGTTAGCAATGAAAACCCCATTTTCTGAGGGAAGCGCTGACATCATGGTCCCTGGAGCCCCTGCGCGGGAGGGGAGGGGGTCTGGCGGATTTCTGGGACCAGCAGGGGGACCCCCGGGTGACAGAACCCTTGGGGCTCTCGCGCCTCCATGCGAGGCTCTGCCTGCCTCTCGCTCCCGAGCGCCTTCCAGGAGGGCTGGGGGCTAGGCCCGCTCGCAGCAGAAAGCTGGAGGAGCCGAGGCATCGCCGGGCGCTGGGCCCTGGGCTCTGGCCGCAGCCTGGCCCCTCGCCCCTCGCCCCCCGCCCCTCCTGCCCAGGCTTCTACGTGACGCTGGTCGTGACCCGCTGGTGGAACCAGTACGAGAACCTGCCGTGGCCCGACCGCCTCATGAGCCTGGTGTCGGGCTTCGTCGAAGGCAAGGACGAGCAAGGCCGGCTGCTGCGGCGCACGCTCATCCGCTACGCCAACCTGGGCAACGTGCTCATCCTGCGCAGCGTCAGCACCGCAGTCTACAAGCGCTTCCCCAGCGCCCAGCACCTGGTGCAAGCAGGTGGGCGGACCGGGAGCAACGGGGAGGCACCGGGCAGAGCCAGGGGCCGAGATGGGCGCGGCAGGAATGGAAGATGGGTGGAGCCAAAGTCCCCCGGACTCGGGGGATTGGGTGGAGCCAGGAGTGGGGTGTAGTCAAGATTTGGGGGTCCAATTGGGCGGGACAGAGTCGGGTGTCTGAAGGTGGGGCGAGGCCAGGAGCCCACCCTCCGAGAGTAGGAGTCTGAGGCAGGGCTAAGGACCCTTGAGGGATAATGGAAAGAAGGGTGACGGCTTGGGAACTGGTGAGGTACTAGGGTCTACTTCCCTCTGCCCTTGCCCCTCTTGATCTCCGGTTTCCACTCTGGAGGTATGGGACATTGGTCTCTGACACCCCCTCAGCCTGGCCTGACCTGGTCCTGGTTAATAAGACAGACCCAGGCTAGGCGTGGTGGCTGTCGCCTGTAATCCCAGTGCTTTAGGAGGCAAAGGTGGGAAGATCGCTTGAGCCCAGCTGTTTGAGACGCCCCTGAGCAACATAGCGAGACCCCCATCTCTACAAAAACATTAAAAATTAGCAGGGCATGGTGGCGTGTGCCTGCAGTCTGAGGCTGAGTATCGGGAGGCTGAGGCAGGAGGATCACTTGAGCCCAGCAGTTCCAGGCTGCAGTGCGCTAAGATCGCACCGCTGCACTCCAACCTCGGTGACAGAGCCAGACCCTTTCTCTGGAAATAAATAAATACCCTGCCCACATGCTCAGCCCAGAACAGCACCTAGTAGGTGCTCAGAAATTTTTTTGTTGTTGAAAGAAAGAGGATGGCAAAGGAGTGCTGAGGTTCCTATAGGTCAGCAGGTGCCGGCCATCCCTTCTGCAGGTTCTCCCACCCACCGCCTTCTTCACTCCACTCTGCAGGCTTTATGACTCCGGCAGAACACAAGCAGTTGGAGAAACTGAGCCTACCACACAACATGTTCTGGGTGCCCTGGGTGTGGTTTGCCAACCTGTCAATGAAGGCGTGGCTTGGAGGTCGAATCCGGGACCCTATCCTGCTCCAGAGCCTGCTGAACGTGAGCCCACTGTACAGACAGGGCTGCCGCAGAGTGGGAAGGGCTGTGGTCCACAGGAAACAAGGTTTCCTACAAAGAGAAGCCTTGGGCCCCTGAGGGTCTTCCGAGAGCCTGAGGTGGGGTTGCAGAATCTTTTCCAACAGCAATCCACAGCCCGAGGTGGTCCCTTCTCAGAGGCCCCTCCCTCTTCTCCAAGTCTGTGAGGTCCTGGTTCCCTTTTGATAGATGAGGAAGCTGAGACACAAAGAGGTTTAGTGAGCTTCCCATGGCCACACAGCCAGGAATGGACCATAGGTACCAGGCCCTGGTACCTGGAGAAGAGGTGGGGGCGAGCCCAGGGTGGGGGCAGGTGGTGTTCAGAACCCCATCCCCCTCTTCTGCCCCCCAGGAGATGAACACCTTGCGTACTCAGTGTGGACACCGGTATGCCTACGACTGGATTAGTATCCCACTGGTGTATACACAGGTGAGGACTAGGCTGGTGAGGCTGCCCTTTTGGGAAACTGAGGCTAGAAGGACCAAGGAAGCAGCTGGGGTGGGAAGGGCTCACCTAGAGGCTAAGTGGCTCCCCTGGGAGTTGGGTCCACACTTTGAAGTTGGGTCTGGACTTTGAAGTGCCAAGTTCTAAGAGTCCAGGCTCCTGCCTGGCCCAGTCCAGTAGAGGCAATGTGATTATCCCCATATTAAAGAGAGGTTGGCCGGGTGCAGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAAGCTGAGGCAGGTGGATCACCTGAGGTCAGGAGTTCGAGACCAGCCTGGCCAACATGGTGAAACCCCATCTCTACTGAAAATACAGAATTAGCTGTGTGGTGGTGCACGCCTGTAATCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATCGCTTGAACCCGGGAGGTGGAGGTTGCAGTGAGCTGAGATCATGCCACTGCACTCCAGCCTGGGCGACACAGCAAGACTCTGTCTCAAACAAACAAACAAACAAACAAACAAAGGGGTTAACAGAGCCCCTAAGTCACATAAGTGTGCAAGTCAGAACAAGGCCTTGGTCTCCTGTCTCAGACTCCCAGCCCCTGGAGCATCCTGATTTCAGGGTTCCCACCTAGCCCTTTGCTACCACATCCTCCTCCTCCTCCCAGGTGGTGACTGTGGCGGTGTACAGCTTCTTCCTGACTTGTCTAGTTGGGCGGCAGTTTCTGAACCCAGCCAAGGCCTACCCTGGCCATGAGCTGGACCTCGTTGTGCCCGTCTTCACGTTCCTGCAGTTCTTCTTCTATGTTGGCTGGCTGAAGGTGGGCCTCTCCAGGGCCCTGCTGGGCTGGAGGCATGGCCAGAGGGGTCATGGCCAGCAGCTGCCTGAGACGAGGATGCAGTGTCAGGAAAGGAAGGTCTCACGGGTAGAAAGCAGCCAGGCGTGGTGGCGCACACCTGTAATCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATCGCTTGAACCCGGGAGGCGGAGGTTGTGGTGAGTTGAGATCGTGCCACTGCACTCCAGCCTGGGCAAAAGAATGAAACTCTATCTCAAAAACAACAACAACAACAAAACAAAGCCCTAAGGTTCAGAAGCCCCTGCCCTTTAGAAGGCAGATCGGCACCACCTCTCCTTATTCAAGATGCCTGTTGGGCTGTCTTGTTCCTCACCTCAAGTGGCTTGTCCAGGTATTCCCTCCCACCACAGCCAATACTCCGAACAGATGTTCTGAATCACACAGTTTTCTCTCCACCTCTTTATCTTTCCTTCCTTCTGTTGCCCACCCACTCTCTCTCCCTTCCTACCTTCCTTTATTTTTTGGTAATGGGGGTGTAAGTCTCTGTCTCTGCCCTTCCTGTCACTGTGACACACACACACACACACACACACACACACACATACACACACACACACACGCATTCCTATTCCTCTAAATTCCCCCTGCCCCCCCAGTTATCTTTGGTTTCTGCAGATCAAAACAAATCACACTTTTATGCTTGAAATTCTCCGGGGTGCCCCAGTGGCCTGCAAGATGTCCCCTGGACCCCTAAGGCAGACGCGTGTCACCTCTTCGGGGCTTTGTTAGGGCATTTTAGAGGTTGCTATCCAGGAATCTGCCCACCTAGACTGCCCTTTAGTTCAGCCCAGCTTCAGTATATATCTCTGTTGCATGAATGAATAAAATTATGCAACTCCAGGTAAGATACATGAGGTGAGATAAAGGCAGTGACTCAGCCGAGTGATACACTCAGGGACAGCTGTGGGTGTTCAGGGAAGGACTGGCTCAGAAGAGTTAGAGGGGCTGTGTCCAGAAGTGTGTGGGTGCCCACAAGTGTGGGGGGCTGGAGCCCTAAACTCTGCCTTTGAAGACAGTGGTCAGGCAGGAAGGGCGTCATGGGGTGTGGAAATAGCAGCAGCTGAGGTTTAAAGGGGGAAGCTGGCTTTGAGGAGTTCTGCCTGA
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Task1_train_15919
|
This variant affects gene BEST1 (bestrophin 1) located on Chromosome 11. Evaluate its biological effect and specify any disease association.
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Pathogenic; Retinal dystrophy
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ACGTTAGGTAAGACGTCCTGCCGTTAGCAATGAAAACCCCATTTTCTGAGGGAAGCGCTGACATCATGGTCCCTGGAGCCCCTGCGCGGGAGGGGAGGGGGTCTGGCGGATTTCTGGGACCAGCAGGGGGACCCCCGGGTGACAGAACCCTTGGGGCTCTCGCGCCTCCATGCGAGGCTCTGCCTGCCTCTCGCTCCCGAGCGCCTTCCAGGAGGGCTGGGGGCTAGGCCCGCTCGCAGCAGAAAGCTGGAGGAGCCGAGGCATCGCCGGGCGCTGGGCCCTGGGCTCTGGCCGCAGCCTGGCCCCTCGCCCCTCGCCCCCCGCCCCTCCTGCCCAGGCTTCTACGTGACGCTGGTCGTGACCCGCTGGTGGAACCAGTACGAGAACCTGCCGTGGCCCGACCGCCTCATGAGCCTGGTGTCGGGCTTCGTCGAAGGCAAGGACGAGCAAGGCCGGCTGCTGCGGCGCACGCTCATCCGCTACGCCAACCTGGGCAACGTGCTCATCCTGCGCAGCGTCAGCACCGCAGTCTACAAGCGCTTCCCCAGCGCCCAGCACCTGGTGCAAGCAGGTGGGCGGACCGGGAGCAACGGGGAGGCACCGGGCAGAGCCAGGGGCCGAGATGGGCGCGGCAGGAATGGAAGATGGGTGGAGCCAAAGTCCCCCGGACTCGGGGGATTGGGTGGAGCCAGGAGTGGGGTGTAGTCAAGATTTGGGGGTCCAATTGGGCGGGACAGAGTCGGGTGTCTGAAGGTGGGGCGAGGCCAGGAGCCCACCCTCCGAGAGTAGGAGTCTGAGGCAGGGCTAAGGACCCTTGAGGGATAATGGAAAGAAGGGTGACGGCTTGGGAACTGGTGAGGTACTAGGGTCTACTTCCCTCTGCCCTTGCCCCTCTTGATCTCCGGTTTCCACTCTGGAGGTATGGGACATTGGTCTCTGACACCCCCTCAGCCTGGCCTGACCTGGTCCTGGTTAATAAGACAGACCCAGGCTAGGCGTGGTGGCTGTCGCCTGTAATCCCAGTGCTTTAGGAGGCAAAGGTGGGAAGATCGCTTGAGCCCAGCTGTTTGAGACGCCCCTGAGCAACATAGCGAGACCCCCATCTCTACAAAAACATTAAAAATTAGCAGGGCATGGTGGCGTGTGCCTGCAGTCTGAGGCTGAGTATCGGGAGGCTGAGGCAGGAGGATCACTTGAGCCCAGCAGTTCCAGGCTGCAGTGCGCTAAGATCGCACCGCTGCACTCCAACCTCGGTGACAGAGCCAGACCCTTTCTCTGGAAATAAATAAATACCCTGCCCACATGCTCAGCCCAGAACAGCACCTAGTAGGTGCTCAGAAATTTTTTTGTTGTTGAAAGAAAGAGGATGGCAAAGGAGTGCTGAGGTTCCTATAGGTCAGCAGGTGCCGGCCATCCCTTCTGCAGGTTCTCCCACCCACCGCCTTCTTCACTCCACTCTGCAGGCTTTATGACTCCGGCAGAACACAAGCAGTTGGAGAAACTGAGCCTACCACACAACATGTTCTGGGTGCCCTGGGTGTGGTTTGCCAACCTGTCAATGAAGGCGTGGCTTGGAGGTCGAATCCGGGACCCTATCCTGCTCCAGAGCCTGCTGAACGTGAGCCCACTGTACAGACAGGGCTGCCGCAGAGTGGGAAGGGCTGTGGTCCACAGGAAACAAGGTTTCCTACAAAGAGAAGCCTTGGGCCCCTGAGGGTCTTCCGAGAGCCTGAGGTGGGGTTGCAGAATCTTTTCCAACAGCAATCCACAGCCCGAGGTGGTCCCTTCTCAGAGGCCCCTCCCTCTTCTCCAAGTCTGTGAGGTCCTGGTTCCCTTTTGATAGATGAGGAAGCTGAGACACAAAGAGGTTTAGTGAGCTTCCCATGGCCACACAGCCAGGAATGGACCATAGGTACCAGGCCCTGGTACCTGGAGAAGAGGTGGGGGCGAGCCCAGGGTGGGGGCAGGTGGTGTTCAGAACCCCATCCCCCTCTTCTGCCCCCCAGGAGATGAACACCTTGCGTACTCAGTGTGGACACCTGTATGCCTACGACTGGATTAGTATCCCACTGGTGTATACACAGGTGAGGACTAGGCTGGTGAGGCTGCCCTTTTGGGAAACTGAGGCTAGAAGGACCAAGGAAGCAGCTGGGGTGGGAAGGGCTCACCTAGAGGCTAAGTGGCTCCCCTGGGAGTTGGGTCCACACTTTGAAGTTGGGTCTGGACTTTGAAGTGCCAAGTTCTAAGAGTCCAGGCTCCTGCCTGGCCCAGTCCAGTAGAGGCAATGTGATTATCCCCATATTAAAGAGAGGTTGGCCGGGTGCAGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAAGCTGAGGCAGGTGGATCACCTGAGGTCAGGAGTTCGAGACCAGCCTGGCCAACATGGTGAAACCCCATCTCTACTGAAAATACAGAATTAGCTGTGTGGTGGTGCACGCCTGTAATCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATCGCTTGAACCCGGGAGGTGGAGGTTGCAGTGAGCTGAGATCATGCCACTGCACTCCAGCCTGGGCGACACAGCAAGACTCTGTCTCAAACAAACAAACAAACAAACAAACAAAGGGGTTAACAGAGCCCCTAAGTCACATAAGTGTGCAAGTCAGAACAAGGCCTTGGTCTCCTGTCTCAGACTCCCAGCCCCTGGAGCATCCTGATTTCAGGGTTCCCACCTAGCCCTTTGCTACCACATCCTCCTCCTCCTCCCAGGTGGTGACTGTGGCGGTGTACAGCTTCTTCCTGACTTGTCTAGTTGGGCGGCAGTTTCTGAACCCAGCCAAGGCCTACCCTGGCCATGAGCTGGACCTCGTTGTGCCCGTCTTCACGTTCCTGCAGTTCTTCTTCTATGTTGGCTGGCTGAAGGTGGGCCTCTCCAGGGCCCTGCTGGGCTGGAGGCATGGCCAGAGGGGTCATGGCCAGCAGCTGCCTGAGACGAGGATGCAGTGTCAGGAAAGGAAGGTCTCACGGGTAGAAAGCAGCCAGGCGTGGTGGCGCACACCTGTAATCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATCGCTTGAACCCGGGAGGCGGAGGTTGTGGTGAGTTGAGATCGTGCCACTGCACTCCAGCCTGGGCAAAAGAATGAAACTCTATCTCAAAAACAACAACAACAACAAAACAAAGCCCTAAGGTTCAGAAGCCCCTGCCCTTTAGAAGGCAGATCGGCACCACCTCTCCTTATTCAAGATGCCTGTTGGGCTGTCTTGTTCCTCACCTCAAGTGGCTTGTCCAGGTATTCCCTCCCACCACAGCCAATACTCCGAACAGATGTTCTGAATCACACAGTTTTCTCTCCACCTCTTTATCTTTCCTTCCTTCTGTTGCCCACCCACTCTCTCTCCCTTCCTACCTTCCTTTATTTTTTGGTAATGGGGGTGTAAGTCTCTGTCTCTGCCCTTCCTGTCACTGTGACACACACACACACACACACACACACACACACATACACACACACACACACGCATTCCTATTCCTCTAAATTCCCCCTGCCCCCCCAGTTATCTTTGGTTTCTGCAGATCAAAACAAATCACACTTTTATGCTTGAAATTCTCCGGGGTGCCCCAGTGGCCTGCAAGATGTCCCCTGGACCCCTAAGGCAGACGCGTGTCACCTCTTCGGGGCTTTGTTAGGGCATTTTAGAGGTTGCTATCCAGGAATCTGCCCACCTAGACTGCCCTTTAGTTCAGCCCAGCTTCAGTATATATCTCTGTTGCATGAATGAATAAAATTATGCAACTCCAGGTAAGATACATGAGGTGAGATAAAGGCAGTGACTCAGCCGAGTGATACACTCAGGGACAGCTGTGGGTGTTCAGGGAAGGACTGGCTCAGAAGAGTTAGAGGGGCTGTGTCCAGAAGTGTGTGGGTGCCCACAAGTGTGGGGGGCTGGAGCCCTAAACTCTGCCTTTGAAGACAGTGGTCAGGCAGGAAGGGCGTCATGGGGTGTGGAAATAGCAGCAGCTGAGGTTTAAAGGGGGAAGCTGGCTTTGAGGAGTTCTGCCTGAGGGTTTAC
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ACGTTAGGTAAGACGTCCTGCCGTTAGCAATGAAAACCCCATTTTCTGAGGGAAGCGCTGACATCATGGTCCCTGGAGCCCCTGCGCGGGAGGGGAGGGGGTCTGGCGGATTTCTGGGACCAGCAGGGGGACCCCCGGGTGACAGAACCCTTGGGGCTCTCGCGCCTCCATGCGAGGCTCTGCCTGCCTCTCGCTCCCGAGCGCCTTCCAGGAGGGCTGGGGGCTAGGCCCGCTCGCAGCAGAAAGCTGGAGGAGCCGAGGCATCGCCGGGCGCTGGGCCCTGGGCTCTGGCCGCAGCCTGGCCCCTCGCCCCTCGCCCCCCGCCCCTCCTGCCCAGGCTTCTACGTGACGCTGGTCGTGACCCGCTGGTGGAACCAGTACGAGAACCTGCCGTGGCCCGACCGCCTCATGAGCCTGGTGTCGGGCTTCGTCGAAGGCAAGGACGAGCAAGGCCGGCTGCTGCGGCGCACGCTCATCCGCTACGCCAACCTGGGCAACGTGCTCATCCTGCGCAGCGTCAGCACCGCAGTCTACAAGCGCTTCCCCAGCGCCCAGCACCTGGTGCAAGCAGGTGGGCGGACCGGGAGCAACGGGGAGGCACCGGGCAGAGCCAGGGGCCGAGATGGGCGCGGCAGGAATGGAAGATGGGTGGAGCCAAAGTCCCCCGGACTCGGGGGATTGGGTGGAGCCAGGAGTGGGGTGTAGTCAAGATTTGGGGGTCCAATTGGGCGGGACAGAGTCGGGTGTCTGAAGGTGGGGCGAGGCCAGGAGCCCACCCTCCGAGAGTAGGAGTCTGAGGCAGGGCTAAGGACCCTTGAGGGATAATGGAAAGAAGGGTGACGGCTTGGGAACTGGTGAGGTACTAGGGTCTACTTCCCTCTGCCCTTGCCCCTCTTGATCTCCGGTTTCCACTCTGGAGGTATGGGACATTGGTCTCTGACACCCCCTCAGCCTGGCCTGACCTGGTCCTGGTTAATAAGACAGACCCAGGCTAGGCGTGGTGGCTGTCGCCTGTAATCCCAGTGCTTTAGGAGGCAAAGGTGGGAAGATCGCTTGAGCCCAGCTGTTTGAGACGCCCCTGAGCAACATAGCGAGACCCCCATCTCTACAAAAACATTAAAAATTAGCAGGGCATGGTGGCGTGTGCCTGCAGTCTGAGGCTGAGTATCGGGAGGCTGAGGCAGGAGGATCACTTGAGCCCAGCAGTTCCAGGCTGCAGTGCGCTAAGATCGCACCGCTGCACTCCAACCTCGGTGACAGAGCCAGACCCTTTCTCTGGAAATAAATAAATACCCTGCCCACATGCTCAGCCCAGAACAGCACCTAGTAGGTGCTCAGAAATTTTTTTGTTGTTGAAAGAAAGAGGATGGCAAAGGAGTGCTGAGGTTCCTATAGGTCAGCAGGTGCCGGCCATCCCTTCTGCAGGTTCTCCCACCCACCGCCTTCTTCACTCCACTCTGCAGGCTTTATGACTCCGGCAGAACACAAGCAGTTGGAGAAACTGAGCCTACCACACAACATGTTCTGGGTGCCCTGGGTGTGGTTTGCCAACCTGTCAATGAAGGCGTGGCTTGGAGGTCGAATCCGGGACCCTATCCTGCTCCAGAGCCTGCTGAACGTGAGCCCACTGTACAGACAGGGCTGCCGCAGAGTGGGAAGGGCTGTGGTCCACAGGAAACAAGGTTTCCTACAAAGAGAAGCCTTGGGCCCCTGAGGGTCTTCCGAGAGCCTGAGGTGGGGTTGCAGAATCTTTTCCAACAGCAATCCACAGCCCGAGGTGGTCCCTTCTCAGAGGCCCCTCCCTCTTCTCCAAGTCTGTGAGGTCCTGGTTCCCTTTTGATAGATGAGGAAGCTGAGACACAAAGAGGTTTAGTGAGCTTCCCATGGCCACACAGCCAGGAATGGACCATAGGTACCAGGCCCTGGTACCTGGAGAAGAGGTGGGGGCGAGCCCAGGGTGGGGGCAGGTGGTGTTCAGAACCCCATCCCCCTCTTCTGCCCCCCAGGAGATGAACACCTTGCGTACTCAGTGTGGACACCTGTATGCCAACGACTGGATTAGTATCCCACTGGTGTATACACAGGTGAGGACTAGGCTGGTGAGGCTGCCCTTTTGGGAAACTGAGGCTAGAAGGACCAAGGAAGCAGCTGGGGTGGGAAGGGCTCACCTAGAGGCTAAGTGGCTCCCCTGGGAGTTGGGTCCACACTTTGAAGTTGGGTCTGGACTTTGAAGTGCCAAGTTCTAAGAGTCCAGGCTCCTGCCTGGCCCAGTCCAGTAGAGGCAATGTGATTATCCCCATATTAAAGAGAGGTTGGCCGGGTGCAGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAAGCTGAGGCAGGTGGATCACCTGAGGTCAGGAGTTCGAGACCAGCCTGGCCAACATGGTGAAACCCCATCTCTACTGAAAATACAGAATTAGCTGTGTGGTGGTGCACGCCTGTAATCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATCGCTTGAACCCGGGAGGTGGAGGTTGCAGTGAGCTGAGATCATGCCACTGCACTCCAGCCTGGGCGACACAGCAAGACTCTGTCTCAAACAAACAAACAAACAAACAAACAAAGGGGTTAACAGAGCCCCTAAGTCACATAAGTGTGCAAGTCAGAACAAGGCCTTGGTCTCCTGTCTCAGACTCCCAGCCCCTGGAGCATCCTGATTTCAGGGTTCCCACCTAGCCCTTTGCTACCACATCCTCCTCCTCCTCCCAGGTGGTGACTGTGGCGGTGTACAGCTTCTTCCTGACTTGTCTAGTTGGGCGGCAGTTTCTGAACCCAGCCAAGGCCTACCCTGGCCATGAGCTGGACCTCGTTGTGCCCGTCTTCACGTTCCTGCAGTTCTTCTTCTATGTTGGCTGGCTGAAGGTGGGCCTCTCCAGGGCCCTGCTGGGCTGGAGGCATGGCCAGAGGGGTCATGGCCAGCAGCTGCCTGAGACGAGGATGCAGTGTCAGGAAAGGAAGGTCTCACGGGTAGAAAGCAGCCAGGCGTGGTGGCGCACACCTGTAATCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATCGCTTGAACCCGGGAGGCGGAGGTTGTGGTGAGTTGAGATCGTGCCACTGCACTCCAGCCTGGGCAAAAGAATGAAACTCTATCTCAAAAACAACAACAACAACAAAACAAAGCCCTAAGGTTCAGAAGCCCCTGCCCTTTAGAAGGCAGATCGGCACCACCTCTCCTTATTCAAGATGCCTGTTGGGCTGTCTTGTTCCTCACCTCAAGTGGCTTGTCCAGGTATTCCCTCCCACCACAGCCAATACTCCGAACAGATGTTCTGAATCACACAGTTTTCTCTCCACCTCTTTATCTTTCCTTCCTTCTGTTGCCCACCCACTCTCTCTCCCTTCCTACCTTCCTTTATTTTTTGGTAATGGGGGTGTAAGTCTCTGTCTCTGCCCTTCCTGTCACTGTGACACACACACACACACACACACACACACACACATACACACACACACACACGCATTCCTATTCCTCTAAATTCCCCCTGCCCCCCCAGTTATCTTTGGTTTCTGCAGATCAAAACAAATCACACTTTTATGCTTGAAATTCTCCGGGGTGCCCCAGTGGCCTGCAAGATGTCCCCTGGACCCCTAAGGCAGACGCGTGTCACCTCTTCGGGGCTTTGTTAGGGCATTTTAGAGGTTGCTATCCAGGAATCTGCCCACCTAGACTGCCCTTTAGTTCAGCCCAGCTTCAGTATATATCTCTGTTGCATGAATGAATAAAATTATGCAACTCCAGGTAAGATACATGAGGTGAGATAAAGGCAGTGACTCAGCCGAGTGATACACTCAGGGACAGCTGTGGGTGTTCAGGGAAGGACTGGCTCAGAAGAGTTAGAGGGGCTGTGTCCAGAAGTGTGTGGGTGCCCACAAGTGTGGGGGGCTGGAGCCCTAAACTCTGCCTTTGAAGACAGTGGTCAGGCAGGAAGGGCGTCATGGGGTGTGGAAATAGCAGCAGCTGAGGTTTAAAGGGGGAAGCTGGCTTTGAGGAGTTCTGCCTGAGGGTTTAC
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Task1_train_15920
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A variant found in Chromosome 11 affects BEST1 (bestrophin 1). Please analyze its biological impact: is it benign or pathogenic, and what condition might it cause?
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Pathogenic; not provided
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GTTAGCAATGAAAACCCCATTTTCTGAGGGAAGCGCTGACATCATGGTCCCTGGAGCCCCTGCGCGGGAGGGGAGGGGGTCTGGCGGATTTCTGGGACCAGCAGGGGGACCCCCGGGTGACAGAACCCTTGGGGCTCTCGCGCCTCCATGCGAGGCTCTGCCTGCCTCTCGCTCCCGAGCGCCTTCCAGGAGGGCTGGGGGCTAGGCCCGCTCGCAGCAGAAAGCTGGAGGAGCCGAGGCATCGCCGGGCGCTGGGCCCTGGGCTCTGGCCGCAGCCTGGCCCCTCGCCCCTCGCCCCCCGCCCCTCCTGCCCAGGCTTCTACGTGACGCTGGTCGTGACCCGCTGGTGGAACCAGTACGAGAACCTGCCGTGGCCCGACCGCCTCATGAGCCTGGTGTCGGGCTTCGTCGAAGGCAAGGACGAGCAAGGCCGGCTGCTGCGGCGCACGCTCATCCGCTACGCCAACCTGGGCAACGTGCTCATCCTGCGCAGCGTCAGCACCGCAGTCTACAAGCGCTTCCCCAGCGCCCAGCACCTGGTGCAAGCAGGTGGGCGGACCGGGAGCAACGGGGAGGCACCGGGCAGAGCCAGGGGCCGAGATGGGCGCGGCAGGAATGGAAGATGGGTGGAGCCAAAGTCCCCCGGACTCGGGGGATTGGGTGGAGCCAGGAGTGGGGTGTAGTCAAGATTTGGGGGTCCAATTGGGCGGGACAGAGTCGGGTGTCTGAAGGTGGGGCGAGGCCAGGAGCCCACCCTCCGAGAGTAGGAGTCTGAGGCAGGGCTAAGGACCCTTGAGGGATAATGGAAAGAAGGGTGACGGCTTGGGAACTGGTGAGGTACTAGGGTCTACTTCCCTCTGCCCTTGCCCCTCTTGATCTCCGGTTTCCACTCTGGAGGTATGGGACATTGGTCTCTGACACCCCCTCAGCCTGGCCTGACCTGGTCCTGGTTAATAAGACAGACCCAGGCTAGGCGTGGTGGCTGTCGCCTGTAATCCCAGTGCTTTAGGAGGCAAAGGTGGGAAGATCGCTTGAGCCCAGCTGTTTGAGACGCCCCTGAGCAACATAGCGAGACCCCCATCTCTACAAAAACATTAAAAATTAGCAGGGCATGGTGGCGTGTGCCTGCAGTCTGAGGCTGAGTATCGGGAGGCTGAGGCAGGAGGATCACTTGAGCCCAGCAGTTCCAGGCTGCAGTGCGCTAAGATCGCACCGCTGCACTCCAACCTCGGTGACAGAGCCAGACCCTTTCTCTGGAAATAAATAAATACCCTGCCCACATGCTCAGCCCAGAACAGCACCTAGTAGGTGCTCAGAAATTTTTTTGTTGTTGAAAGAAAGAGGATGGCAAAGGAGTGCTGAGGTTCCTATAGGTCAGCAGGTGCCGGCCATCCCTTCTGCAGGTTCTCCCACCCACCGCCTTCTTCACTCCACTCTGCAGGCTTTATGACTCCGGCAGAACACAAGCAGTTGGAGAAACTGAGCCTACCACACAACATGTTCTGGGTGCCCTGGGTGTGGTTTGCCAACCTGTCAATGAAGGCGTGGCTTGGAGGTCGAATCCGGGACCCTATCCTGCTCCAGAGCCTGCTGAACGTGAGCCCACTGTACAGACAGGGCTGCCGCAGAGTGGGAAGGGCTGTGGTCCACAGGAAACAAGGTTTCCTACAAAGAGAAGCCTTGGGCCCCTGAGGGTCTTCCGAGAGCCTGAGGTGGGGTTGCAGAATCTTTTCCAACAGCAATCCACAGCCCGAGGTGGTCCCTTCTCAGAGGCCCCTCCCTCTTCTCCAAGTCTGTGAGGTCCTGGTTCCCTTTTGATAGATGAGGAAGCTGAGACACAAAGAGGTTTAGTGAGCTTCCCATGGCCACACAGCCAGGAATGGACCATAGGTACCAGGCCCTGGTACCTGGAGAAGAGGTGGGGGCGAGCCCAGGGTGGGGGCAGGTGGTGTTCAGAACCCCATCCCCCTCTTCTGCCCCCCAGGAGATGAACACCTTGCGTACTCAGTGTGGACACCTGTATGCCTACGACTGGATTAGTATCCCACTGGTGTATACACAGGTGAGGACTAGGCTGGTGAGGCTGCCCTTTTGGGAAACTGAGGCTAGAAGGACCAAGGAAGCAGCTGGGGTGGGAAGGGCTCACCTAGAGGCTAAGTGGCTCCCCTGGGAGTTGGGTCCACACTTTGAAGTTGGGTCTGGACTTTGAAGTGCCAAGTTCTAAGAGTCCAGGCTCCTGCCTGGCCCAGTCCAGTAGAGGCAATGTGATTATCCCCATATTAAAGAGAGGTTGGCCGGGTGCAGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAAGCTGAGGCAGGTGGATCACCTGAGGTCAGGAGTTCGAGACCAGCCTGGCCAACATGGTGAAACCCCATCTCTACTGAAAATACAGAATTAGCTGTGTGGTGGTGCACGCCTGTAATCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATCGCTTGAACCCGGGAGGTGGAGGTTGCAGTGAGCTGAGATCATGCCACTGCACTCCAGCCTGGGCGACACAGCAAGACTCTGTCTCAAACAAACAAACAAACAAACAAACAAAGGGGTTAACAGAGCCCCTAAGTCACATAAGTGTGCAAGTCAGAACAAGGCCTTGGTCTCCTGTCTCAGACTCCCAGCCCCTGGAGCATCCTGATTTCAGGGTTCCCACCTAGCCCTTTGCTACCACATCCTCCTCCTCCTCCCAGGTGGTGACTGTGGCGGTGTACAGCTTCTTCCTGACTTGTCTAGTTGGGCGGCAGTTTCTGAACCCAGCCAAGGCCTACCCTGGCCATGAGCTGGACCTCGTTGTGCCCGTCTTCACGTTCCTGCAGTTCTTCTTCTATGTTGGCTGGCTGAAGGTGGGCCTCTCCAGGGCCCTGCTGGGCTGGAGGCATGGCCAGAGGGGTCATGGCCAGCAGCTGCCTGAGACGAGGATGCAGTGTCAGGAAAGGAAGGTCTCACGGGTAGAAAGCAGCCAGGCGTGGTGGCGCACACCTGTAATCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATCGCTTGAACCCGGGAGGCGGAGGTTGTGGTGAGTTGAGATCGTGCCACTGCACTCCAGCCTGGGCAAAAGAATGAAACTCTATCTCAAAAACAACAACAACAACAAAACAAAGCCCTAAGGTTCAGAAGCCCCTGCCCTTTAGAAGGCAGATCGGCACCACCTCTCCTTATTCAAGATGCCTGTTGGGCTGTCTTGTTCCTCACCTCAAGTGGCTTGTCCAGGTATTCCCTCCCACCACAGCCAATACTCCGAACAGATGTTCTGAATCACACAGTTTTCTCTCCACCTCTTTATCTTTCCTTCCTTCTGTTGCCCACCCACTCTCTCTCCCTTCCTACCTTCCTTTATTTTTTGGTAATGGGGGTGTAAGTCTCTGTCTCTGCCCTTCCTGTCACTGTGACACACACACACACACACACACACACACACACATACACACACACACACACGCATTCCTATTCCTCTAAATTCCCCCTGCCCCCCCAGTTATCTTTGGTTTCTGCAGATCAAAACAAATCACACTTTTATGCTTGAAATTCTCCGGGGTGCCCCAGTGGCCTGCAAGATGTCCCCTGGACCCCTAAGGCAGACGCGTGTCACCTCTTCGGGGCTTTGTTAGGGCATTTTAGAGGTTGCTATCCAGGAATCTGCCCACCTAGACTGCCCTTTAGTTCAGCCCAGCTTCAGTATATATCTCTGTTGCATGAATGAATAAAATTATGCAACTCCAGGTAAGATACATGAGGTGAGATAAAGGCAGTGACTCAGCCGAGTGATACACTCAGGGACAGCTGTGGGTGTTCAGGGAAGGACTGGCTCAGAAGAGTTAGAGGGGCTGTGTCCAGAAGTGTGTGGGTGCCCACAAGTGTGGGGGGCTGGAGCCCTAAACTCTGCCTTTGAAGACAGTGGTCAGGCAGGAAGGGCGTCATGGGGTGTGGAAATAGCAGCAGCTGAGGTTTAAAGGGGGAAGCTGGCTTTGAGGAGTTCTGCCTGAGGGTTTACAGAGCCTCACCTGTCCCCAAGG
|
GTTAGCAATGAAAACCCCATTTTCTGAGGGAAGCGCTGACATCATGGTCCCTGGAGCCCCTGCGCGGGAGGGGAGGGGGTCTGGCGGATTTCTGGGACCAGCAGGGGGACCCCCGGGTGACAGAACCCTTGGGGCTCTCGCGCCTCCATGCGAGGCTCTGCCTGCCTCTCGCTCCCGAGCGCCTTCCAGGAGGGCTGGGGGCTAGGCCCGCTCGCAGCAGAAAGCTGGAGGAGCCGAGGCATCGCCGGGCGCTGGGCCCTGGGCTCTGGCCGCAGCCTGGCCCCTCGCCCCTCGCCCCCCGCCCCTCCTGCCCAGGCTTCTACGTGACGCTGGTCGTGACCCGCTGGTGGAACCAGTACGAGAACCTGCCGTGGCCCGACCGCCTCATGAGCCTGGTGTCGGGCTTCGTCGAAGGCAAGGACGAGCAAGGCCGGCTGCTGCGGCGCACGCTCATCCGCTACGCCAACCTGGGCAACGTGCTCATCCTGCGCAGCGTCAGCACCGCAGTCTACAAGCGCTTCCCCAGCGCCCAGCACCTGGTGCAAGCAGGTGGGCGGACCGGGAGCAACGGGGAGGCACCGGGCAGAGCCAGGGGCCGAGATGGGCGCGGCAGGAATGGAAGATGGGTGGAGCCAAAGTCCCCCGGACTCGGGGGATTGGGTGGAGCCAGGAGTGGGGTGTAGTCAAGATTTGGGGGTCCAATTGGGCGGGACAGAGTCGGGTGTCTGAAGGTGGGGCGAGGCCAGGAGCCCACCCTCCGAGAGTAGGAGTCTGAGGCAGGGCTAAGGACCCTTGAGGGATAATGGAAAGAAGGGTGACGGCTTGGGAACTGGTGAGGTACTAGGGTCTACTTCCCTCTGCCCTTGCCCCTCTTGATCTCCGGTTTCCACTCTGGAGGTATGGGACATTGGTCTCTGACACCCCCTCAGCCTGGCCTGACCTGGTCCTGGTTAATAAGACAGACCCAGGCTAGGCGTGGTGGCTGTCGCCTGTAATCCCAGTGCTTTAGGAGGCAAAGGTGGGAAGATCGCTTGAGCCCAGCTGTTTGAGACGCCCCTGAGCAACATAGCGAGACCCCCATCTCTACAAAAACATTAAAAATTAGCAGGGCATGGTGGCGTGTGCCTGCAGTCTGAGGCTGAGTATCGGGAGGCTGAGGCAGGAGGATCACTTGAGCCCAGCAGTTCCAGGCTGCAGTGCGCTAAGATCGCACCGCTGCACTCCAACCTCGGTGACAGAGCCAGACCCTTTCTCTGGAAATAAATAAATACCCTGCCCACATGCTCAGCCCAGAACAGCACCTAGTAGGTGCTCAGAAATTTTTTTGTTGTTGAAAGAAAGAGGATGGCAAAGGAGTGCTGAGGTTCCTATAGGTCAGCAGGTGCCGGCCATCCCTTCTGCAGGTTCTCCCACCCACCGCCTTCTTCACTCCACTCTGCAGGCTTTATGACTCCGGCAGAACACAAGCAGTTGGAGAAACTGAGCCTACCACACAACATGTTCTGGGTGCCCTGGGTGTGGTTTGCCAACCTGTCAATGAAGGCGTGGCTTGGAGGTCGAATCCGGGACCCTATCCTGCTCCAGAGCCTGCTGAACGTGAGCCCACTGTACAGACAGGGCTGCCGCAGAGTGGGAAGGGCTGTGGTCCACAGGAAACAAGGTTTCCTACAAAGAGAAGCCTTGGGCCCCTGAGGGTCTTCCGAGAGCCTGAGGTGGGGTTGCAGAATCTTTTCCAACAGCAATCCACAGCCCGAGGTGGTCCCTTCTCAGAGGCCCCTCCCTCTTCTCCAAGTCTGTGAGGTCCTGGTTCCCTTTTGATAGATGAGGAAGCTGAGACACAAAGAGGTTTAGTGAGCTTCCCATGGCCACACAGCCAGGAATGGACCATAGGTACCAGGCCCTGGTACCTGGAGAAGAGGTGGGGGCGAGCCCAGGGTGGGGGCAGGTGGTGTTCAGAACCCCATCCCCCTCTTCTGCCCCCCAGGAGATGAACACCTTGCGTACTCAGTGTGGACACCTGTATGCCTACGACTGGATTAGTATCCCACGGGTGTATACACAGGTGAGGACTAGGCTGGTGAGGCTGCCCTTTTGGGAAACTGAGGCTAGAAGGACCAAGGAAGCAGCTGGGGTGGGAAGGGCTCACCTAGAGGCTAAGTGGCTCCCCTGGGAGTTGGGTCCACACTTTGAAGTTGGGTCTGGACTTTGAAGTGCCAAGTTCTAAGAGTCCAGGCTCCTGCCTGGCCCAGTCCAGTAGAGGCAATGTGATTATCCCCATATTAAAGAGAGGTTGGCCGGGTGCAGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAAGCTGAGGCAGGTGGATCACCTGAGGTCAGGAGTTCGAGACCAGCCTGGCCAACATGGTGAAACCCCATCTCTACTGAAAATACAGAATTAGCTGTGTGGTGGTGCACGCCTGTAATCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATCGCTTGAACCCGGGAGGTGGAGGTTGCAGTGAGCTGAGATCATGCCACTGCACTCCAGCCTGGGCGACACAGCAAGACTCTGTCTCAAACAAACAAACAAACAAACAAACAAAGGGGTTAACAGAGCCCCTAAGTCACATAAGTGTGCAAGTCAGAACAAGGCCTTGGTCTCCTGTCTCAGACTCCCAGCCCCTGGAGCATCCTGATTTCAGGGTTCCCACCTAGCCCTTTGCTACCACATCCTCCTCCTCCTCCCAGGTGGTGACTGTGGCGGTGTACAGCTTCTTCCTGACTTGTCTAGTTGGGCGGCAGTTTCTGAACCCAGCCAAGGCCTACCCTGGCCATGAGCTGGACCTCGTTGTGCCCGTCTTCACGTTCCTGCAGTTCTTCTTCTATGTTGGCTGGCTGAAGGTGGGCCTCTCCAGGGCCCTGCTGGGCTGGAGGCATGGCCAGAGGGGTCATGGCCAGCAGCTGCCTGAGACGAGGATGCAGTGTCAGGAAAGGAAGGTCTCACGGGTAGAAAGCAGCCAGGCGTGGTGGCGCACACCTGTAATCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATCGCTTGAACCCGGGAGGCGGAGGTTGTGGTGAGTTGAGATCGTGCCACTGCACTCCAGCCTGGGCAAAAGAATGAAACTCTATCTCAAAAACAACAACAACAACAAAACAAAGCCCTAAGGTTCAGAAGCCCCTGCCCTTTAGAAGGCAGATCGGCACCACCTCTCCTTATTCAAGATGCCTGTTGGGCTGTCTTGTTCCTCACCTCAAGTGGCTTGTCCAGGTATTCCCTCCCACCACAGCCAATACTCCGAACAGATGTTCTGAATCACACAGTTTTCTCTCCACCTCTTTATCTTTCCTTCCTTCTGTTGCCCACCCACTCTCTCTCCCTTCCTACCTTCCTTTATTTTTTGGTAATGGGGGTGTAAGTCTCTGTCTCTGCCCTTCCTGTCACTGTGACACACACACACACACACACACACACACACACATACACACACACACACACGCATTCCTATTCCTCTAAATTCCCCCTGCCCCCCCAGTTATCTTTGGTTTCTGCAGATCAAAACAAATCACACTTTTATGCTTGAAATTCTCCGGGGTGCCCCAGTGGCCTGCAAGATGTCCCCTGGACCCCTAAGGCAGACGCGTGTCACCTCTTCGGGGCTTTGTTAGGGCATTTTAGAGGTTGCTATCCAGGAATCTGCCCACCTAGACTGCCCTTTAGTTCAGCCCAGCTTCAGTATATATCTCTGTTGCATGAATGAATAAAATTATGCAACTCCAGGTAAGATACATGAGGTGAGATAAAGGCAGTGACTCAGCCGAGTGATACACTCAGGGACAGCTGTGGGTGTTCAGGGAAGGACTGGCTCAGAAGAGTTAGAGGGGCTGTGTCCAGAAGTGTGTGGGTGCCCACAAGTGTGGGGGGCTGGAGCCCTAAACTCTGCCTTTGAAGACAGTGGTCAGGCAGGAAGGGCGTCATGGGGTGTGGAAATAGCAGCAGCTGAGGTTTAAAGGGGGAAGCTGGCTTTGAGGAGTTCTGCCTGAGGGTTTACAGAGCCTCACCTGTCCCCAAGG
|
Task1_train_15921
|
An alteration has been detected in BEST1 (bestrophin 1) on Chromosome 11. Is it pathogenic, and if so, what disease is involved?
|
Pathogenic; Autosomal dominant vitreoretinochoroidopathy
|
AGCAATGAAAACCCCATTTTCTGAGGGAAGCGCTGACATCATGGTCCCTGGAGCCCCTGCGCGGGAGGGGAGGGGGTCTGGCGGATTTCTGGGACCAGCAGGGGGACCCCCGGGTGACAGAACCCTTGGGGCTCTCGCGCCTCCATGCGAGGCTCTGCCTGCCTCTCGCTCCCGAGCGCCTTCCAGGAGGGCTGGGGGCTAGGCCCGCTCGCAGCAGAAAGCTGGAGGAGCCGAGGCATCGCCGGGCGCTGGGCCCTGGGCTCTGGCCGCAGCCTGGCCCCTCGCCCCTCGCCCCCCGCCCCTCCTGCCCAGGCTTCTACGTGACGCTGGTCGTGACCCGCTGGTGGAACCAGTACGAGAACCTGCCGTGGCCCGACCGCCTCATGAGCCTGGTGTCGGGCTTCGTCGAAGGCAAGGACGAGCAAGGCCGGCTGCTGCGGCGCACGCTCATCCGCTACGCCAACCTGGGCAACGTGCTCATCCTGCGCAGCGTCAGCACCGCAGTCTACAAGCGCTTCCCCAGCGCCCAGCACCTGGTGCAAGCAGGTGGGCGGACCGGGAGCAACGGGGAGGCACCGGGCAGAGCCAGGGGCCGAGATGGGCGCGGCAGGAATGGAAGATGGGTGGAGCCAAAGTCCCCCGGACTCGGGGGATTGGGTGGAGCCAGGAGTGGGGTGTAGTCAAGATTTGGGGGTCCAATTGGGCGGGACAGAGTCGGGTGTCTGAAGGTGGGGCGAGGCCAGGAGCCCACCCTCCGAGAGTAGGAGTCTGAGGCAGGGCTAAGGACCCTTGAGGGATAATGGAAAGAAGGGTGACGGCTTGGGAACTGGTGAGGTACTAGGGTCTACTTCCCTCTGCCCTTGCCCCTCTTGATCTCCGGTTTCCACTCTGGAGGTATGGGACATTGGTCTCTGACACCCCCTCAGCCTGGCCTGACCTGGTCCTGGTTAATAAGACAGACCCAGGCTAGGCGTGGTGGCTGTCGCCTGTAATCCCAGTGCTTTAGGAGGCAAAGGTGGGAAGATCGCTTGAGCCCAGCTGTTTGAGACGCCCCTGAGCAACATAGCGAGACCCCCATCTCTACAAAAACATTAAAAATTAGCAGGGCATGGTGGCGTGTGCCTGCAGTCTGAGGCTGAGTATCGGGAGGCTGAGGCAGGAGGATCACTTGAGCCCAGCAGTTCCAGGCTGCAGTGCGCTAAGATCGCACCGCTGCACTCCAACCTCGGTGACAGAGCCAGACCCTTTCTCTGGAAATAAATAAATACCCTGCCCACATGCTCAGCCCAGAACAGCACCTAGTAGGTGCTCAGAAATTTTTTTGTTGTTGAAAGAAAGAGGATGGCAAAGGAGTGCTGAGGTTCCTATAGGTCAGCAGGTGCCGGCCATCCCTTCTGCAGGTTCTCCCACCCACCGCCTTCTTCACTCCACTCTGCAGGCTTTATGACTCCGGCAGAACACAAGCAGTTGGAGAAACTGAGCCTACCACACAACATGTTCTGGGTGCCCTGGGTGTGGTTTGCCAACCTGTCAATGAAGGCGTGGCTTGGAGGTCGAATCCGGGACCCTATCCTGCTCCAGAGCCTGCTGAACGTGAGCCCACTGTACAGACAGGGCTGCCGCAGAGTGGGAAGGGCTGTGGTCCACAGGAAACAAGGTTTCCTACAAAGAGAAGCCTTGGGCCCCTGAGGGTCTTCCGAGAGCCTGAGGTGGGGTTGCAGAATCTTTTCCAACAGCAATCCACAGCCCGAGGTGGTCCCTTCTCAGAGGCCCCTCCCTCTTCTCCAAGTCTGTGAGGTCCTGGTTCCCTTTTGATAGATGAGGAAGCTGAGACACAAAGAGGTTTAGTGAGCTTCCCATGGCCACACAGCCAGGAATGGACCATAGGTACCAGGCCCTGGTACCTGGAGAAGAGGTGGGGGCGAGCCCAGGGTGGGGGCAGGTGGTGTTCAGAACCCCATCCCCCTCTTCTGCCCCCCAGGAGATGAACACCTTGCGTACTCAGTGTGGACACCTGTATGCCTACGACTGGATTAGTATCCCACTGGTGTATACACAGGTGAGGACTAGGCTGGTGAGGCTGCCCTTTTGGGAAACTGAGGCTAGAAGGACCAAGGAAGCAGCTGGGGTGGGAAGGGCTCACCTAGAGGCTAAGTGGCTCCCCTGGGAGTTGGGTCCACACTTTGAAGTTGGGTCTGGACTTTGAAGTGCCAAGTTCTAAGAGTCCAGGCTCCTGCCTGGCCCAGTCCAGTAGAGGCAATGTGATTATCCCCATATTAAAGAGAGGTTGGCCGGGTGCAGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAAGCTGAGGCAGGTGGATCACCTGAGGTCAGGAGTTCGAGACCAGCCTGGCCAACATGGTGAAACCCCATCTCTACTGAAAATACAGAATTAGCTGTGTGGTGGTGCACGCCTGTAATCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATCGCTTGAACCCGGGAGGTGGAGGTTGCAGTGAGCTGAGATCATGCCACTGCACTCCAGCCTGGGCGACACAGCAAGACTCTGTCTCAAACAAACAAACAAACAAACAAACAAAGGGGTTAACAGAGCCCCTAAGTCACATAAGTGTGCAAGTCAGAACAAGGCCTTGGTCTCCTGTCTCAGACTCCCAGCCCCTGGAGCATCCTGATTTCAGGGTTCCCACCTAGCCCTTTGCTACCACATCCTCCTCCTCCTCCCAGGTGGTGACTGTGGCGGTGTACAGCTTCTTCCTGACTTGTCTAGTTGGGCGGCAGTTTCTGAACCCAGCCAAGGCCTACCCTGGCCATGAGCTGGACCTCGTTGTGCCCGTCTTCACGTTCCTGCAGTTCTTCTTCTATGTTGGCTGGCTGAAGGTGGGCCTCTCCAGGGCCCTGCTGGGCTGGAGGCATGGCCAGAGGGGTCATGGCCAGCAGCTGCCTGAGACGAGGATGCAGTGTCAGGAAAGGAAGGTCTCACGGGTAGAAAGCAGCCAGGCGTGGTGGCGCACACCTGTAATCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATCGCTTGAACCCGGGAGGCGGAGGTTGTGGTGAGTTGAGATCGTGCCACTGCACTCCAGCCTGGGCAAAAGAATGAAACTCTATCTCAAAAACAACAACAACAACAAAACAAAGCCCTAAGGTTCAGAAGCCCCTGCCCTTTAGAAGGCAGATCGGCACCACCTCTCCTTATTCAAGATGCCTGTTGGGCTGTCTTGTTCCTCACCTCAAGTGGCTTGTCCAGGTATTCCCTCCCACCACAGCCAATACTCCGAACAGATGTTCTGAATCACACAGTTTTCTCTCCACCTCTTTATCTTTCCTTCCTTCTGTTGCCCACCCACTCTCTCTCCCTTCCTACCTTCCTTTATTTTTTGGTAATGGGGGTGTAAGTCTCTGTCTCTGCCCTTCCTGTCACTGTGACACACACACACACACACACACACACACACACATACACACACACACACACGCATTCCTATTCCTCTAAATTCCCCCTGCCCCCCCAGTTATCTTTGGTTTCTGCAGATCAAAACAAATCACACTTTTATGCTTGAAATTCTCCGGGGTGCCCCAGTGGCCTGCAAGATGTCCCCTGGACCCCTAAGGCAGACGCGTGTCACCTCTTCGGGGCTTTGTTAGGGCATTTTAGAGGTTGCTATCCAGGAATCTGCCCACCTAGACTGCCCTTTAGTTCAGCCCAGCTTCAGTATATATCTCTGTTGCATGAATGAATAAAATTATGCAACTCCAGGTAAGATACATGAGGTGAGATAAAGGCAGTGACTCAGCCGAGTGATACACTCAGGGACAGCTGTGGGTGTTCAGGGAAGGACTGGCTCAGAAGAGTTAGAGGGGCTGTGTCCAGAAGTGTGTGGGTGCCCACAAGTGTGGGGGGCTGGAGCCCTAAACTCTGCCTTTGAAGACAGTGGTCAGGCAGGAAGGGCGTCATGGGGTGTGGAAATAGCAGCAGCTGAGGTTTAAAGGGGGAAGCTGGCTTTGAGGAGTTCTGCCTGAGGGTTTACAGAGCCTCACCTGTCCCCAAGGTGG
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AGCAATGAAAACCCCATTTTCTGAGGGAAGCGCTGACATCATGGTCCCTGGAGCCCCTGCGCGGGAGGGGAGGGGGTCTGGCGGATTTCTGGGACCAGCAGGGGGACCCCCGGGTGACAGAACCCTTGGGGCTCTCGCGCCTCCATGCGAGGCTCTGCCTGCCTCTCGCTCCCGAGCGCCTTCCAGGAGGGCTGGGGGCTAGGCCCGCTCGCAGCAGAAAGCTGGAGGAGCCGAGGCATCGCCGGGCGCTGGGCCCTGGGCTCTGGCCGCAGCCTGGCCCCTCGCCCCTCGCCCCCCGCCCCTCCTGCCCAGGCTTCTACGTGACGCTGGTCGTGACCCGCTGGTGGAACCAGTACGAGAACCTGCCGTGGCCCGACCGCCTCATGAGCCTGGTGTCGGGCTTCGTCGAAGGCAAGGACGAGCAAGGCCGGCTGCTGCGGCGCACGCTCATCCGCTACGCCAACCTGGGCAACGTGCTCATCCTGCGCAGCGTCAGCACCGCAGTCTACAAGCGCTTCCCCAGCGCCCAGCACCTGGTGCAAGCAGGTGGGCGGACCGGGAGCAACGGGGAGGCACCGGGCAGAGCCAGGGGCCGAGATGGGCGCGGCAGGAATGGAAGATGGGTGGAGCCAAAGTCCCCCGGACTCGGGGGATTGGGTGGAGCCAGGAGTGGGGTGTAGTCAAGATTTGGGGGTCCAATTGGGCGGGACAGAGTCGGGTGTCTGAAGGTGGGGCGAGGCCAGGAGCCCACCCTCCGAGAGTAGGAGTCTGAGGCAGGGCTAAGGACCCTTGAGGGATAATGGAAAGAAGGGTGACGGCTTGGGAACTGGTGAGGTACTAGGGTCTACTTCCCTCTGCCCTTGCCCCTCTTGATCTCCGGTTTCCACTCTGGAGGTATGGGACATTGGTCTCTGACACCCCCTCAGCCTGGCCTGACCTGGTCCTGGTTAATAAGACAGACCCAGGCTAGGCGTGGTGGCTGTCGCCTGTAATCCCAGTGCTTTAGGAGGCAAAGGTGGGAAGATCGCTTGAGCCCAGCTGTTTGAGACGCCCCTGAGCAACATAGCGAGACCCCCATCTCTACAAAAACATTAAAAATTAGCAGGGCATGGTGGCGTGTGCCTGCAGTCTGAGGCTGAGTATCGGGAGGCTGAGGCAGGAGGATCACTTGAGCCCAGCAGTTCCAGGCTGCAGTGCGCTAAGATCGCACCGCTGCACTCCAACCTCGGTGACAGAGCCAGACCCTTTCTCTGGAAATAAATAAATACCCTGCCCACATGCTCAGCCCAGAACAGCACCTAGTAGGTGCTCAGAAATTTTTTTGTTGTTGAAAGAAAGAGGATGGCAAAGGAGTGCTGAGGTTCCTATAGGTCAGCAGGTGCCGGCCATCCCTTCTGCAGGTTCTCCCACCCACCGCCTTCTTCACTCCACTCTGCAGGCTTTATGACTCCGGCAGAACACAAGCAGTTGGAGAAACTGAGCCTACCACACAACATGTTCTGGGTGCCCTGGGTGTGGTTTGCCAACCTGTCAATGAAGGCGTGGCTTGGAGGTCGAATCCGGGACCCTATCCTGCTCCAGAGCCTGCTGAACGTGAGCCCACTGTACAGACAGGGCTGCCGCAGAGTGGGAAGGGCTGTGGTCCACAGGAAACAAGGTTTCCTACAAAGAGAAGCCTTGGGCCCCTGAGGGTCTTCCGAGAGCCTGAGGTGGGGTTGCAGAATCTTTTCCAACAGCAATCCACAGCCCGAGGTGGTCCCTTCTCAGAGGCCCCTCCCTCTTCTCCAAGTCTGTGAGGTCCTGGTTCCCTTTTGATAGATGAGGAAGCTGAGACACAAAGAGGTTTAGTGAGCTTCCCATGGCCACACAGCCAGGAATGGACCATAGGTACCAGGCCCTGGTACCTGGAGAAGAGGTGGGGGCGAGCCCAGGGTGGGGGCAGGTGGTGTTCAGAACCCCATCCCCCTCTTCTGCCCCCCAGGAGATGAACACCTTGCGTACTCAGTGTGGACACCTGTATGCCTACGACTGGATTAGTATCCCACTGGCGTATACACAGGTGAGGACTAGGCTGGTGAGGCTGCCCTTTTGGGAAACTGAGGCTAGAAGGACCAAGGAAGCAGCTGGGGTGGGAAGGGCTCACCTAGAGGCTAAGTGGCTCCCCTGGGAGTTGGGTCCACACTTTGAAGTTGGGTCTGGACTTTGAAGTGCCAAGTTCTAAGAGTCCAGGCTCCTGCCTGGCCCAGTCCAGTAGAGGCAATGTGATTATCCCCATATTAAAGAGAGGTTGGCCGGGTGCAGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAAGCTGAGGCAGGTGGATCACCTGAGGTCAGGAGTTCGAGACCAGCCTGGCCAACATGGTGAAACCCCATCTCTACTGAAAATACAGAATTAGCTGTGTGGTGGTGCACGCCTGTAATCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATCGCTTGAACCCGGGAGGTGGAGGTTGCAGTGAGCTGAGATCATGCCACTGCACTCCAGCCTGGGCGACACAGCAAGACTCTGTCTCAAACAAACAAACAAACAAACAAACAAAGGGGTTAACAGAGCCCCTAAGTCACATAAGTGTGCAAGTCAGAACAAGGCCTTGGTCTCCTGTCTCAGACTCCCAGCCCCTGGAGCATCCTGATTTCAGGGTTCCCACCTAGCCCTTTGCTACCACATCCTCCTCCTCCTCCCAGGTGGTGACTGTGGCGGTGTACAGCTTCTTCCTGACTTGTCTAGTTGGGCGGCAGTTTCTGAACCCAGCCAAGGCCTACCCTGGCCATGAGCTGGACCTCGTTGTGCCCGTCTTCACGTTCCTGCAGTTCTTCTTCTATGTTGGCTGGCTGAAGGTGGGCCTCTCCAGGGCCCTGCTGGGCTGGAGGCATGGCCAGAGGGGTCATGGCCAGCAGCTGCCTGAGACGAGGATGCAGTGTCAGGAAAGGAAGGTCTCACGGGTAGAAAGCAGCCAGGCGTGGTGGCGCACACCTGTAATCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATCGCTTGAACCCGGGAGGCGGAGGTTGTGGTGAGTTGAGATCGTGCCACTGCACTCCAGCCTGGGCAAAAGAATGAAACTCTATCTCAAAAACAACAACAACAACAAAACAAAGCCCTAAGGTTCAGAAGCCCCTGCCCTTTAGAAGGCAGATCGGCACCACCTCTCCTTATTCAAGATGCCTGTTGGGCTGTCTTGTTCCTCACCTCAAGTGGCTTGTCCAGGTATTCCCTCCCACCACAGCCAATACTCCGAACAGATGTTCTGAATCACACAGTTTTCTCTCCACCTCTTTATCTTTCCTTCCTTCTGTTGCCCACCCACTCTCTCTCCCTTCCTACCTTCCTTTATTTTTTGGTAATGGGGGTGTAAGTCTCTGTCTCTGCCCTTCCTGTCACTGTGACACACACACACACACACACACACACACACACATACACACACACACACACGCATTCCTATTCCTCTAAATTCCCCCTGCCCCCCCAGTTATCTTTGGTTTCTGCAGATCAAAACAAATCACACTTTTATGCTTGAAATTCTCCGGGGTGCCCCAGTGGCCTGCAAGATGTCCCCTGGACCCCTAAGGCAGACGCGTGTCACCTCTTCGGGGCTTTGTTAGGGCATTTTAGAGGTTGCTATCCAGGAATCTGCCCACCTAGACTGCCCTTTAGTTCAGCCCAGCTTCAGTATATATCTCTGTTGCATGAATGAATAAAATTATGCAACTCCAGGTAAGATACATGAGGTGAGATAAAGGCAGTGACTCAGCCGAGTGATACACTCAGGGACAGCTGTGGGTGTTCAGGGAAGGACTGGCTCAGAAGAGTTAGAGGGGCTGTGTCCAGAAGTGTGTGGGTGCCCACAAGTGTGGGGGGCTGGAGCCCTAAACTCTGCCTTTGAAGACAGTGGTCAGGCAGGAAGGGCGTCATGGGGTGTGGAAATAGCAGCAGCTGAGGTTTAAAGGGGGAAGCTGGCTTTGAGGAGTTCTGCCTGAGGGTTTACAGAGCCTCACCTGTCCCCAAGGTGG
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Task1_train_15922
|
A variant was discovered on Chromosome 11, affecting BEST1 (bestrophin 1). What is its functional impact — neutral or pathogenic? State the disease if pathogenic.
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Pathogenic; not provided
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AATGAAAACCCCATTTTCTGAGGGAAGCGCTGACATCATGGTCCCTGGAGCCCCTGCGCGGGAGGGGAGGGGGTCTGGCGGATTTCTGGGACCAGCAGGGGGACCCCCGGGTGACAGAACCCTTGGGGCTCTCGCGCCTCCATGCGAGGCTCTGCCTGCCTCTCGCTCCCGAGCGCCTTCCAGGAGGGCTGGGGGCTAGGCCCGCTCGCAGCAGAAAGCTGGAGGAGCCGAGGCATCGCCGGGCGCTGGGCCCTGGGCTCTGGCCGCAGCCTGGCCCCTCGCCCCTCGCCCCCCGCCCCTCCTGCCCAGGCTTCTACGTGACGCTGGTCGTGACCCGCTGGTGGAACCAGTACGAGAACCTGCCGTGGCCCGACCGCCTCATGAGCCTGGTGTCGGGCTTCGTCGAAGGCAAGGACGAGCAAGGCCGGCTGCTGCGGCGCACGCTCATCCGCTACGCCAACCTGGGCAACGTGCTCATCCTGCGCAGCGTCAGCACCGCAGTCTACAAGCGCTTCCCCAGCGCCCAGCACCTGGTGCAAGCAGGTGGGCGGACCGGGAGCAACGGGGAGGCACCGGGCAGAGCCAGGGGCCGAGATGGGCGCGGCAGGAATGGAAGATGGGTGGAGCCAAAGTCCCCCGGACTCGGGGGATTGGGTGGAGCCAGGAGTGGGGTGTAGTCAAGATTTGGGGGTCCAATTGGGCGGGACAGAGTCGGGTGTCTGAAGGTGGGGCGAGGCCAGGAGCCCACCCTCCGAGAGTAGGAGTCTGAGGCAGGGCTAAGGACCCTTGAGGGATAATGGAAAGAAGGGTGACGGCTTGGGAACTGGTGAGGTACTAGGGTCTACTTCCCTCTGCCCTTGCCCCTCTTGATCTCCGGTTTCCACTCTGGAGGTATGGGACATTGGTCTCTGACACCCCCTCAGCCTGGCCTGACCTGGTCCTGGTTAATAAGACAGACCCAGGCTAGGCGTGGTGGCTGTCGCCTGTAATCCCAGTGCTTTAGGAGGCAAAGGTGGGAAGATCGCTTGAGCCCAGCTGTTTGAGACGCCCCTGAGCAACATAGCGAGACCCCCATCTCTACAAAAACATTAAAAATTAGCAGGGCATGGTGGCGTGTGCCTGCAGTCTGAGGCTGAGTATCGGGAGGCTGAGGCAGGAGGATCACTTGAGCCCAGCAGTTCCAGGCTGCAGTGCGCTAAGATCGCACCGCTGCACTCCAACCTCGGTGACAGAGCCAGACCCTTTCTCTGGAAATAAATAAATACCCTGCCCACATGCTCAGCCCAGAACAGCACCTAGTAGGTGCTCAGAAATTTTTTTGTTGTTGAAAGAAAGAGGATGGCAAAGGAGTGCTGAGGTTCCTATAGGTCAGCAGGTGCCGGCCATCCCTTCTGCAGGTTCTCCCACCCACCGCCTTCTTCACTCCACTCTGCAGGCTTTATGACTCCGGCAGAACACAAGCAGTTGGAGAAACTGAGCCTACCACACAACATGTTCTGGGTGCCCTGGGTGTGGTTTGCCAACCTGTCAATGAAGGCGTGGCTTGGAGGTCGAATCCGGGACCCTATCCTGCTCCAGAGCCTGCTGAACGTGAGCCCACTGTACAGACAGGGCTGCCGCAGAGTGGGAAGGGCTGTGGTCCACAGGAAACAAGGTTTCCTACAAAGAGAAGCCTTGGGCCCCTGAGGGTCTTCCGAGAGCCTGAGGTGGGGTTGCAGAATCTTTTCCAACAGCAATCCACAGCCCGAGGTGGTCCCTTCTCAGAGGCCCCTCCCTCTTCTCCAAGTCTGTGAGGTCCTGGTTCCCTTTTGATAGATGAGGAAGCTGAGACACAAAGAGGTTTAGTGAGCTTCCCATGGCCACACAGCCAGGAATGGACCATAGGTACCAGGCCCTGGTACCTGGAGAAGAGGTGGGGGCGAGCCCAGGGTGGGGGCAGGTGGTGTTCAGAACCCCATCCCCCTCTTCTGCCCCCCAGGAGATGAACACCTTGCGTACTCAGTGTGGACACCTGTATGCCTACGACTGGATTAGTATCCCACTGGTGTATACACAGGTGAGGACTAGGCTGGTGAGGCTGCCCTTTTGGGAAACTGAGGCTAGAAGGACCAAGGAAGCAGCTGGGGTGGGAAGGGCTCACCTAGAGGCTAAGTGGCTCCCCTGGGAGTTGGGTCCACACTTTGAAGTTGGGTCTGGACTTTGAAGTGCCAAGTTCTAAGAGTCCAGGCTCCTGCCTGGCCCAGTCCAGTAGAGGCAATGTGATTATCCCCATATTAAAGAGAGGTTGGCCGGGTGCAGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAAGCTGAGGCAGGTGGATCACCTGAGGTCAGGAGTTCGAGACCAGCCTGGCCAACATGGTGAAACCCCATCTCTACTGAAAATACAGAATTAGCTGTGTGGTGGTGCACGCCTGTAATCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATCGCTTGAACCCGGGAGGTGGAGGTTGCAGTGAGCTGAGATCATGCCACTGCACTCCAGCCTGGGCGACACAGCAAGACTCTGTCTCAAACAAACAAACAAACAAACAAACAAAGGGGTTAACAGAGCCCCTAAGTCACATAAGTGTGCAAGTCAGAACAAGGCCTTGGTCTCCTGTCTCAGACTCCCAGCCCCTGGAGCATCCTGATTTCAGGGTTCCCACCTAGCCCTTTGCTACCACATCCTCCTCCTCCTCCCAGGTGGTGACTGTGGCGGTGTACAGCTTCTTCCTGACTTGTCTAGTTGGGCGGCAGTTTCTGAACCCAGCCAAGGCCTACCCTGGCCATGAGCTGGACCTCGTTGTGCCCGTCTTCACGTTCCTGCAGTTCTTCTTCTATGTTGGCTGGCTGAAGGTGGGCCTCTCCAGGGCCCTGCTGGGCTGGAGGCATGGCCAGAGGGGTCATGGCCAGCAGCTGCCTGAGACGAGGATGCAGTGTCAGGAAAGGAAGGTCTCACGGGTAGAAAGCAGCCAGGCGTGGTGGCGCACACCTGTAATCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATCGCTTGAACCCGGGAGGCGGAGGTTGTGGTGAGTTGAGATCGTGCCACTGCACTCCAGCCTGGGCAAAAGAATGAAACTCTATCTCAAAAACAACAACAACAACAAAACAAAGCCCTAAGGTTCAGAAGCCCCTGCCCTTTAGAAGGCAGATCGGCACCACCTCTCCTTATTCAAGATGCCTGTTGGGCTGTCTTGTTCCTCACCTCAAGTGGCTTGTCCAGGTATTCCCTCCCACCACAGCCAATACTCCGAACAGATGTTCTGAATCACACAGTTTTCTCTCCACCTCTTTATCTTTCCTTCCTTCTGTTGCCCACCCACTCTCTCTCCCTTCCTACCTTCCTTTATTTTTTGGTAATGGGGGTGTAAGTCTCTGTCTCTGCCCTTCCTGTCACTGTGACACACACACACACACACACACACACACACACATACACACACACACACACGCATTCCTATTCCTCTAAATTCCCCCTGCCCCCCCAGTTATCTTTGGTTTCTGCAGATCAAAACAAATCACACTTTTATGCTTGAAATTCTCCGGGGTGCCCCAGTGGCCTGCAAGATGTCCCCTGGACCCCTAAGGCAGACGCGTGTCACCTCTTCGGGGCTTTGTTAGGGCATTTTAGAGGTTGCTATCCAGGAATCTGCCCACCTAGACTGCCCTTTAGTTCAGCCCAGCTTCAGTATATATCTCTGTTGCATGAATGAATAAAATTATGCAACTCCAGGTAAGATACATGAGGTGAGATAAAGGCAGTGACTCAGCCGAGTGATACACTCAGGGACAGCTGTGGGTGTTCAGGGAAGGACTGGCTCAGAAGAGTTAGAGGGGCTGTGTCCAGAAGTGTGTGGGTGCCCACAAGTGTGGGGGGCTGGAGCCCTAAACTCTGCCTTTGAAGACAGTGGTCAGGCAGGAAGGGCGTCATGGGGTGTGGAAATAGCAGCAGCTGAGGTTTAAAGGGGGAAGCTGGCTTTGAGGAGTTCTGCCTGAGGGTTTACAGAGCCTCACCTGTCCCCAAGGTGGCAG
|
AATGAAAACCCCATTTTCTGAGGGAAGCGCTGACATCATGGTCCCTGGAGCCCCTGCGCGGGAGGGGAGGGGGTCTGGCGGATTTCTGGGACCAGCAGGGGGACCCCCGGGTGACAGAACCCTTGGGGCTCTCGCGCCTCCATGCGAGGCTCTGCCTGCCTCTCGCTCCCGAGCGCCTTCCAGGAGGGCTGGGGGCTAGGCCCGCTCGCAGCAGAAAGCTGGAGGAGCCGAGGCATCGCCGGGCGCTGGGCCCTGGGCTCTGGCCGCAGCCTGGCCCCTCGCCCCTCGCCCCCCGCCCCTCCTGCCCAGGCTTCTACGTGACGCTGGTCGTGACCCGCTGGTGGAACCAGTACGAGAACCTGCCGTGGCCCGACCGCCTCATGAGCCTGGTGTCGGGCTTCGTCGAAGGCAAGGACGAGCAAGGCCGGCTGCTGCGGCGCACGCTCATCCGCTACGCCAACCTGGGCAACGTGCTCATCCTGCGCAGCGTCAGCACCGCAGTCTACAAGCGCTTCCCCAGCGCCCAGCACCTGGTGCAAGCAGGTGGGCGGACCGGGAGCAACGGGGAGGCACCGGGCAGAGCCAGGGGCCGAGATGGGCGCGGCAGGAATGGAAGATGGGTGGAGCCAAAGTCCCCCGGACTCGGGGGATTGGGTGGAGCCAGGAGTGGGGTGTAGTCAAGATTTGGGGGTCCAATTGGGCGGGACAGAGTCGGGTGTCTGAAGGTGGGGCGAGGCCAGGAGCCCACCCTCCGAGAGTAGGAGTCTGAGGCAGGGCTAAGGACCCTTGAGGGATAATGGAAAGAAGGGTGACGGCTTGGGAACTGGTGAGGTACTAGGGTCTACTTCCCTCTGCCCTTGCCCCTCTTGATCTCCGGTTTCCACTCTGGAGGTATGGGACATTGGTCTCTGACACCCCCTCAGCCTGGCCTGACCTGGTCCTGGTTAATAAGACAGACCCAGGCTAGGCGTGGTGGCTGTCGCCTGTAATCCCAGTGCTTTAGGAGGCAAAGGTGGGAAGATCGCTTGAGCCCAGCTGTTTGAGACGCCCCTGAGCAACATAGCGAGACCCCCATCTCTACAAAAACATTAAAAATTAGCAGGGCATGGTGGCGTGTGCCTGCAGTCTGAGGCTGAGTATCGGGAGGCTGAGGCAGGAGGATCACTTGAGCCCAGCAGTTCCAGGCTGCAGTGCGCTAAGATCGCACCGCTGCACTCCAACCTCGGTGACAGAGCCAGACCCTTTCTCTGGAAATAAATAAATACCCTGCCCACATGCTCAGCCCAGAACAGCACCTAGTAGGTGCTCAGAAATTTTTTTGTTGTTGAAAGAAAGAGGATGGCAAAGGAGTGCTGAGGTTCCTATAGGTCAGCAGGTGCCGGCCATCCCTTCTGCAGGTTCTCCCACCCACCGCCTTCTTCACTCCACTCTGCAGGCTTTATGACTCCGGCAGAACACAAGCAGTTGGAGAAACTGAGCCTACCACACAACATGTTCTGGGTGCCCTGGGTGTGGTTTGCCAACCTGTCAATGAAGGCGTGGCTTGGAGGTCGAATCCGGGACCCTATCCTGCTCCAGAGCCTGCTGAACGTGAGCCCACTGTACAGACAGGGCTGCCGCAGAGTGGGAAGGGCTGTGGTCCACAGGAAACAAGGTTTCCTACAAAGAGAAGCCTTGGGCCCCTGAGGGTCTTCCGAGAGCCTGAGGTGGGGTTGCAGAATCTTTTCCAACAGCAATCCACAGCCCGAGGTGGTCCCTTCTCAGAGGCCCCTCCCTCTTCTCCAAGTCTGTGAGGTCCTGGTTCCCTTTTGATAGATGAGGAAGCTGAGACACAAAGAGGTTTAGTGAGCTTCCCATGGCCACACAGCCAGGAATGGACCATAGGTACCAGGCCCTGGTACCTGGAGAAGAGGTGGGGGCGAGCCCAGGGTGGGGGCAGGTGGTGTTCAGAACCCCATCCCCCTCTTCTGCCCCCCAGGAGATGAACACCTTGCGTACTCAGTGTGGACACCTGTATGCCTACGACTGGATTAGTATCCCACTGGTGTGTACACAGGTGAGGACTAGGCTGGTGAGGCTGCCCTTTTGGGAAACTGAGGCTAGAAGGACCAAGGAAGCAGCTGGGGTGGGAAGGGCTCACCTAGAGGCTAAGTGGCTCCCCTGGGAGTTGGGTCCACACTTTGAAGTTGGGTCTGGACTTTGAAGTGCCAAGTTCTAAGAGTCCAGGCTCCTGCCTGGCCCAGTCCAGTAGAGGCAATGTGATTATCCCCATATTAAAGAGAGGTTGGCCGGGTGCAGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAAGCTGAGGCAGGTGGATCACCTGAGGTCAGGAGTTCGAGACCAGCCTGGCCAACATGGTGAAACCCCATCTCTACTGAAAATACAGAATTAGCTGTGTGGTGGTGCACGCCTGTAATCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATCGCTTGAACCCGGGAGGTGGAGGTTGCAGTGAGCTGAGATCATGCCACTGCACTCCAGCCTGGGCGACACAGCAAGACTCTGTCTCAAACAAACAAACAAACAAACAAACAAAGGGGTTAACAGAGCCCCTAAGTCACATAAGTGTGCAAGTCAGAACAAGGCCTTGGTCTCCTGTCTCAGACTCCCAGCCCCTGGAGCATCCTGATTTCAGGGTTCCCACCTAGCCCTTTGCTACCACATCCTCCTCCTCCTCCCAGGTGGTGACTGTGGCGGTGTACAGCTTCTTCCTGACTTGTCTAGTTGGGCGGCAGTTTCTGAACCCAGCCAAGGCCTACCCTGGCCATGAGCTGGACCTCGTTGTGCCCGTCTTCACGTTCCTGCAGTTCTTCTTCTATGTTGGCTGGCTGAAGGTGGGCCTCTCCAGGGCCCTGCTGGGCTGGAGGCATGGCCAGAGGGGTCATGGCCAGCAGCTGCCTGAGACGAGGATGCAGTGTCAGGAAAGGAAGGTCTCACGGGTAGAAAGCAGCCAGGCGTGGTGGCGCACACCTGTAATCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATCGCTTGAACCCGGGAGGCGGAGGTTGTGGTGAGTTGAGATCGTGCCACTGCACTCCAGCCTGGGCAAAAGAATGAAACTCTATCTCAAAAACAACAACAACAACAAAACAAAGCCCTAAGGTTCAGAAGCCCCTGCCCTTTAGAAGGCAGATCGGCACCACCTCTCCTTATTCAAGATGCCTGTTGGGCTGTCTTGTTCCTCACCTCAAGTGGCTTGTCCAGGTATTCCCTCCCACCACAGCCAATACTCCGAACAGATGTTCTGAATCACACAGTTTTCTCTCCACCTCTTTATCTTTCCTTCCTTCTGTTGCCCACCCACTCTCTCTCCCTTCCTACCTTCCTTTATTTTTTGGTAATGGGGGTGTAAGTCTCTGTCTCTGCCCTTCCTGTCACTGTGACACACACACACACACACACACACACACACACATACACACACACACACACGCATTCCTATTCCTCTAAATTCCCCCTGCCCCCCCAGTTATCTTTGGTTTCTGCAGATCAAAACAAATCACACTTTTATGCTTGAAATTCTCCGGGGTGCCCCAGTGGCCTGCAAGATGTCCCCTGGACCCCTAAGGCAGACGCGTGTCACCTCTTCGGGGCTTTGTTAGGGCATTTTAGAGGTTGCTATCCAGGAATCTGCCCACCTAGACTGCCCTTTAGTTCAGCCCAGCTTCAGTATATATCTCTGTTGCATGAATGAATAAAATTATGCAACTCCAGGTAAGATACATGAGGTGAGATAAAGGCAGTGACTCAGCCGAGTGATACACTCAGGGACAGCTGTGGGTGTTCAGGGAAGGACTGGCTCAGAAGAGTTAGAGGGGCTGTGTCCAGAAGTGTGTGGGTGCCCACAAGTGTGGGGGGCTGGAGCCCTAAACTCTGCCTTTGAAGACAGTGGTCAGGCAGGAAGGGCGTCATGGGGTGTGGAAATAGCAGCAGCTGAGGTTTAAAGGGGGAAGCTGGCTTTGAGGAGTTCTGCCTGAGGGTTTACAGAGCCTCACCTGTCCCCAAGGTGGCAG
|
Task1_train_15923
|
This is a variant in BEST1 (bestrophin 1), located on Chromosome 11. Is this mutation a likely cause of disease or not?
|
Pathogenic; Retinal dystrophy
|
TGAAAACCCCATTTTCTGAGGGAAGCGCTGACATCATGGTCCCTGGAGCCCCTGCGCGGGAGGGGAGGGGGTCTGGCGGATTTCTGGGACCAGCAGGGGGACCCCCGGGTGACAGAACCCTTGGGGCTCTCGCGCCTCCATGCGAGGCTCTGCCTGCCTCTCGCTCCCGAGCGCCTTCCAGGAGGGCTGGGGGCTAGGCCCGCTCGCAGCAGAAAGCTGGAGGAGCCGAGGCATCGCCGGGCGCTGGGCCCTGGGCTCTGGCCGCAGCCTGGCCCCTCGCCCCTCGCCCCCCGCCCCTCCTGCCCAGGCTTCTACGTGACGCTGGTCGTGACCCGCTGGTGGAACCAGTACGAGAACCTGCCGTGGCCCGACCGCCTCATGAGCCTGGTGTCGGGCTTCGTCGAAGGCAAGGACGAGCAAGGCCGGCTGCTGCGGCGCACGCTCATCCGCTACGCCAACCTGGGCAACGTGCTCATCCTGCGCAGCGTCAGCACCGCAGTCTACAAGCGCTTCCCCAGCGCCCAGCACCTGGTGCAAGCAGGTGGGCGGACCGGGAGCAACGGGGAGGCACCGGGCAGAGCCAGGGGCCGAGATGGGCGCGGCAGGAATGGAAGATGGGTGGAGCCAAAGTCCCCCGGACTCGGGGGATTGGGTGGAGCCAGGAGTGGGGTGTAGTCAAGATTTGGGGGTCCAATTGGGCGGGACAGAGTCGGGTGTCTGAAGGTGGGGCGAGGCCAGGAGCCCACCCTCCGAGAGTAGGAGTCTGAGGCAGGGCTAAGGACCCTTGAGGGATAATGGAAAGAAGGGTGACGGCTTGGGAACTGGTGAGGTACTAGGGTCTACTTCCCTCTGCCCTTGCCCCTCTTGATCTCCGGTTTCCACTCTGGAGGTATGGGACATTGGTCTCTGACACCCCCTCAGCCTGGCCTGACCTGGTCCTGGTTAATAAGACAGACCCAGGCTAGGCGTGGTGGCTGTCGCCTGTAATCCCAGTGCTTTAGGAGGCAAAGGTGGGAAGATCGCTTGAGCCCAGCTGTTTGAGACGCCCCTGAGCAACATAGCGAGACCCCCATCTCTACAAAAACATTAAAAATTAGCAGGGCATGGTGGCGTGTGCCTGCAGTCTGAGGCTGAGTATCGGGAGGCTGAGGCAGGAGGATCACTTGAGCCCAGCAGTTCCAGGCTGCAGTGCGCTAAGATCGCACCGCTGCACTCCAACCTCGGTGACAGAGCCAGACCCTTTCTCTGGAAATAAATAAATACCCTGCCCACATGCTCAGCCCAGAACAGCACCTAGTAGGTGCTCAGAAATTTTTTTGTTGTTGAAAGAAAGAGGATGGCAAAGGAGTGCTGAGGTTCCTATAGGTCAGCAGGTGCCGGCCATCCCTTCTGCAGGTTCTCCCACCCACCGCCTTCTTCACTCCACTCTGCAGGCTTTATGACTCCGGCAGAACACAAGCAGTTGGAGAAACTGAGCCTACCACACAACATGTTCTGGGTGCCCTGGGTGTGGTTTGCCAACCTGTCAATGAAGGCGTGGCTTGGAGGTCGAATCCGGGACCCTATCCTGCTCCAGAGCCTGCTGAACGTGAGCCCACTGTACAGACAGGGCTGCCGCAGAGTGGGAAGGGCTGTGGTCCACAGGAAACAAGGTTTCCTACAAAGAGAAGCCTTGGGCCCCTGAGGGTCTTCCGAGAGCCTGAGGTGGGGTTGCAGAATCTTTTCCAACAGCAATCCACAGCCCGAGGTGGTCCCTTCTCAGAGGCCCCTCCCTCTTCTCCAAGTCTGTGAGGTCCTGGTTCCCTTTTGATAGATGAGGAAGCTGAGACACAAAGAGGTTTAGTGAGCTTCCCATGGCCACACAGCCAGGAATGGACCATAGGTACCAGGCCCTGGTACCTGGAGAAGAGGTGGGGGCGAGCCCAGGGTGGGGGCAGGTGGTGTTCAGAACCCCATCCCCCTCTTCTGCCCCCCAGGAGATGAACACCTTGCGTACTCAGTGTGGACACCTGTATGCCTACGACTGGATTAGTATCCCACTGGTGTATACACAGGTGAGGACTAGGCTGGTGAGGCTGCCCTTTTGGGAAACTGAGGCTAGAAGGACCAAGGAAGCAGCTGGGGTGGGAAGGGCTCACCTAGAGGCTAAGTGGCTCCCCTGGGAGTTGGGTCCACACTTTGAAGTTGGGTCTGGACTTTGAAGTGCCAAGTTCTAAGAGTCCAGGCTCCTGCCTGGCCCAGTCCAGTAGAGGCAATGTGATTATCCCCATATTAAAGAGAGGTTGGCCGGGTGCAGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAAGCTGAGGCAGGTGGATCACCTGAGGTCAGGAGTTCGAGACCAGCCTGGCCAACATGGTGAAACCCCATCTCTACTGAAAATACAGAATTAGCTGTGTGGTGGTGCACGCCTGTAATCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATCGCTTGAACCCGGGAGGTGGAGGTTGCAGTGAGCTGAGATCATGCCACTGCACTCCAGCCTGGGCGACACAGCAAGACTCTGTCTCAAACAAACAAACAAACAAACAAACAAAGGGGTTAACAGAGCCCCTAAGTCACATAAGTGTGCAAGTCAGAACAAGGCCTTGGTCTCCTGTCTCAGACTCCCAGCCCCTGGAGCATCCTGATTTCAGGGTTCCCACCTAGCCCTTTGCTACCACATCCTCCTCCTCCTCCCAGGTGGTGACTGTGGCGGTGTACAGCTTCTTCCTGACTTGTCTAGTTGGGCGGCAGTTTCTGAACCCAGCCAAGGCCTACCCTGGCCATGAGCTGGACCTCGTTGTGCCCGTCTTCACGTTCCTGCAGTTCTTCTTCTATGTTGGCTGGCTGAAGGTGGGCCTCTCCAGGGCCCTGCTGGGCTGGAGGCATGGCCAGAGGGGTCATGGCCAGCAGCTGCCTGAGACGAGGATGCAGTGTCAGGAAAGGAAGGTCTCACGGGTAGAAAGCAGCCAGGCGTGGTGGCGCACACCTGTAATCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATCGCTTGAACCCGGGAGGCGGAGGTTGTGGTGAGTTGAGATCGTGCCACTGCACTCCAGCCTGGGCAAAAGAATGAAACTCTATCTCAAAAACAACAACAACAACAAAACAAAGCCCTAAGGTTCAGAAGCCCCTGCCCTTTAGAAGGCAGATCGGCACCACCTCTCCTTATTCAAGATGCCTGTTGGGCTGTCTTGTTCCTCACCTCAAGTGGCTTGTCCAGGTATTCCCTCCCACCACAGCCAATACTCCGAACAGATGTTCTGAATCACACAGTTTTCTCTCCACCTCTTTATCTTTCCTTCCTTCTGTTGCCCACCCACTCTCTCTCCCTTCCTACCTTCCTTTATTTTTTGGTAATGGGGGTGTAAGTCTCTGTCTCTGCCCTTCCTGTCACTGTGACACACACACACACACACACACACACACACACATACACACACACACACACGCATTCCTATTCCTCTAAATTCCCCCTGCCCCCCCAGTTATCTTTGGTTTCTGCAGATCAAAACAAATCACACTTTTATGCTTGAAATTCTCCGGGGTGCCCCAGTGGCCTGCAAGATGTCCCCTGGACCCCTAAGGCAGACGCGTGTCACCTCTTCGGGGCTTTGTTAGGGCATTTTAGAGGTTGCTATCCAGGAATCTGCCCACCTAGACTGCCCTTTAGTTCAGCCCAGCTTCAGTATATATCTCTGTTGCATGAATGAATAAAATTATGCAACTCCAGGTAAGATACATGAGGTGAGATAAAGGCAGTGACTCAGCCGAGTGATACACTCAGGGACAGCTGTGGGTGTTCAGGGAAGGACTGGCTCAGAAGAGTTAGAGGGGCTGTGTCCAGAAGTGTGTGGGTGCCCACAAGTGTGGGGGGCTGGAGCCCTAAACTCTGCCTTTGAAGACAGTGGTCAGGCAGGAAGGGCGTCATGGGGTGTGGAAATAGCAGCAGCTGAGGTTTAAAGGGGGAAGCTGGCTTTGAGGAGTTCTGCCTGAGGGTTTACAGAGCCTCACCTGTCCCCAAGGTGGCAGAG
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TGAAAACCCCATTTTCTGAGGGAAGCGCTGACATCATGGTCCCTGGAGCCCCTGCGCGGGAGGGGAGGGGGTCTGGCGGATTTCTGGGACCAGCAGGGGGACCCCCGGGTGACAGAACCCTTGGGGCTCTCGCGCCTCCATGCGAGGCTCTGCCTGCCTCTCGCTCCCGAGCGCCTTCCAGGAGGGCTGGGGGCTAGGCCCGCTCGCAGCAGAAAGCTGGAGGAGCCGAGGCATCGCCGGGCGCTGGGCCCTGGGCTCTGGCCGCAGCCTGGCCCCTCGCCCCTCGCCCCCCGCCCCTCCTGCCCAGGCTTCTACGTGACGCTGGTCGTGACCCGCTGGTGGAACCAGTACGAGAACCTGCCGTGGCCCGACCGCCTCATGAGCCTGGTGTCGGGCTTCGTCGAAGGCAAGGACGAGCAAGGCCGGCTGCTGCGGCGCACGCTCATCCGCTACGCCAACCTGGGCAACGTGCTCATCCTGCGCAGCGTCAGCACCGCAGTCTACAAGCGCTTCCCCAGCGCCCAGCACCTGGTGCAAGCAGGTGGGCGGACCGGGAGCAACGGGGAGGCACCGGGCAGAGCCAGGGGCCGAGATGGGCGCGGCAGGAATGGAAGATGGGTGGAGCCAAAGTCCCCCGGACTCGGGGGATTGGGTGGAGCCAGGAGTGGGGTGTAGTCAAGATTTGGGGGTCCAATTGGGCGGGACAGAGTCGGGTGTCTGAAGGTGGGGCGAGGCCAGGAGCCCACCCTCCGAGAGTAGGAGTCTGAGGCAGGGCTAAGGACCCTTGAGGGATAATGGAAAGAAGGGTGACGGCTTGGGAACTGGTGAGGTACTAGGGTCTACTTCCCTCTGCCCTTGCCCCTCTTGATCTCCGGTTTCCACTCTGGAGGTATGGGACATTGGTCTCTGACACCCCCTCAGCCTGGCCTGACCTGGTCCTGGTTAATAAGACAGACCCAGGCTAGGCGTGGTGGCTGTCGCCTGTAATCCCAGTGCTTTAGGAGGCAAAGGTGGGAAGATCGCTTGAGCCCAGCTGTTTGAGACGCCCCTGAGCAACATAGCGAGACCCCCATCTCTACAAAAACATTAAAAATTAGCAGGGCATGGTGGCGTGTGCCTGCAGTCTGAGGCTGAGTATCGGGAGGCTGAGGCAGGAGGATCACTTGAGCCCAGCAGTTCCAGGCTGCAGTGCGCTAAGATCGCACCGCTGCACTCCAACCTCGGTGACAGAGCCAGACCCTTTCTCTGGAAATAAATAAATACCCTGCCCACATGCTCAGCCCAGAACAGCACCTAGTAGGTGCTCAGAAATTTTTTTGTTGTTGAAAGAAAGAGGATGGCAAAGGAGTGCTGAGGTTCCTATAGGTCAGCAGGTGCCGGCCATCCCTTCTGCAGGTTCTCCCACCCACCGCCTTCTTCACTCCACTCTGCAGGCTTTATGACTCCGGCAGAACACAAGCAGTTGGAGAAACTGAGCCTACCACACAACATGTTCTGGGTGCCCTGGGTGTGGTTTGCCAACCTGTCAATGAAGGCGTGGCTTGGAGGTCGAATCCGGGACCCTATCCTGCTCCAGAGCCTGCTGAACGTGAGCCCACTGTACAGACAGGGCTGCCGCAGAGTGGGAAGGGCTGTGGTCCACAGGAAACAAGGTTTCCTACAAAGAGAAGCCTTGGGCCCCTGAGGGTCTTCCGAGAGCCTGAGGTGGGGTTGCAGAATCTTTTCCAACAGCAATCCACAGCCCGAGGTGGTCCCTTCTCAGAGGCCCCTCCCTCTTCTCCAAGTCTGTGAGGTCCTGGTTCCCTTTTGATAGATGAGGAAGCTGAGACACAAAGAGGTTTAGTGAGCTTCCCATGGCCACACAGCCAGGAATGGACCATAGGTACCAGGCCCTGGTACCTGGAGAAGAGGTGGGGGCGAGCCCAGGGTGGGGGCAGGTGGTGTTCAGAACCCCATCCCCCTCTTCTGCCCCCCAGGAGATGAACACCTTGCGTACTCAGTGTGGACACCTGTATGCCTACGACTGGATTAGTATCCCACTGGTGTATTCACAGGTGAGGACTAGGCTGGTGAGGCTGCCCTTTTGGGAAACTGAGGCTAGAAGGACCAAGGAAGCAGCTGGGGTGGGAAGGGCTCACCTAGAGGCTAAGTGGCTCCCCTGGGAGTTGGGTCCACACTTTGAAGTTGGGTCTGGACTTTGAAGTGCCAAGTTCTAAGAGTCCAGGCTCCTGCCTGGCCCAGTCCAGTAGAGGCAATGTGATTATCCCCATATTAAAGAGAGGTTGGCCGGGTGCAGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAAGCTGAGGCAGGTGGATCACCTGAGGTCAGGAGTTCGAGACCAGCCTGGCCAACATGGTGAAACCCCATCTCTACTGAAAATACAGAATTAGCTGTGTGGTGGTGCACGCCTGTAATCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATCGCTTGAACCCGGGAGGTGGAGGTTGCAGTGAGCTGAGATCATGCCACTGCACTCCAGCCTGGGCGACACAGCAAGACTCTGTCTCAAACAAACAAACAAACAAACAAACAAAGGGGTTAACAGAGCCCCTAAGTCACATAAGTGTGCAAGTCAGAACAAGGCCTTGGTCTCCTGTCTCAGACTCCCAGCCCCTGGAGCATCCTGATTTCAGGGTTCCCACCTAGCCCTTTGCTACCACATCCTCCTCCTCCTCCCAGGTGGTGACTGTGGCGGTGTACAGCTTCTTCCTGACTTGTCTAGTTGGGCGGCAGTTTCTGAACCCAGCCAAGGCCTACCCTGGCCATGAGCTGGACCTCGTTGTGCCCGTCTTCACGTTCCTGCAGTTCTTCTTCTATGTTGGCTGGCTGAAGGTGGGCCTCTCCAGGGCCCTGCTGGGCTGGAGGCATGGCCAGAGGGGTCATGGCCAGCAGCTGCCTGAGACGAGGATGCAGTGTCAGGAAAGGAAGGTCTCACGGGTAGAAAGCAGCCAGGCGTGGTGGCGCACACCTGTAATCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATCGCTTGAACCCGGGAGGCGGAGGTTGTGGTGAGTTGAGATCGTGCCACTGCACTCCAGCCTGGGCAAAAGAATGAAACTCTATCTCAAAAACAACAACAACAACAAAACAAAGCCCTAAGGTTCAGAAGCCCCTGCCCTTTAGAAGGCAGATCGGCACCACCTCTCCTTATTCAAGATGCCTGTTGGGCTGTCTTGTTCCTCACCTCAAGTGGCTTGTCCAGGTATTCCCTCCCACCACAGCCAATACTCCGAACAGATGTTCTGAATCACACAGTTTTCTCTCCACCTCTTTATCTTTCCTTCCTTCTGTTGCCCACCCACTCTCTCTCCCTTCCTACCTTCCTTTATTTTTTGGTAATGGGGGTGTAAGTCTCTGTCTCTGCCCTTCCTGTCACTGTGACACACACACACACACACACACACACACACACATACACACACACACACACGCATTCCTATTCCTCTAAATTCCCCCTGCCCCCCCAGTTATCTTTGGTTTCTGCAGATCAAAACAAATCACACTTTTATGCTTGAAATTCTCCGGGGTGCCCCAGTGGCCTGCAAGATGTCCCCTGGACCCCTAAGGCAGACGCGTGTCACCTCTTCGGGGCTTTGTTAGGGCATTTTAGAGGTTGCTATCCAGGAATCTGCCCACCTAGACTGCCCTTTAGTTCAGCCCAGCTTCAGTATATATCTCTGTTGCATGAATGAATAAAATTATGCAACTCCAGGTAAGATACATGAGGTGAGATAAAGGCAGTGACTCAGCCGAGTGATACACTCAGGGACAGCTGTGGGTGTTCAGGGAAGGACTGGCTCAGAAGAGTTAGAGGGGCTGTGTCCAGAAGTGTGTGGGTGCCCACAAGTGTGGGGGGCTGGAGCCCTAAACTCTGCCTTTGAAGACAGTGGTCAGGCAGGAAGGGCGTCATGGGGTGTGGAAATAGCAGCAGCTGAGGTTTAAAGGGGGAAGCTGGCTTTGAGGAGTTCTGCCTGAGGGTTTACAGAGCCTCACCTGTCCCCAAGGTGGCAGAG
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Task1_train_15924
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The gene BEST1 (bestrophin 1) is located on Chromosome 11, where a mutation has occurred. What is the medical relevance of this mutation?
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Pathogenic; Retinal dystrophy
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TTGGGCGGGACAGAGTCGGGTGTCTGAAGGTGGGGCGAGGCCAGGAGCCCACCCTCCGAGAGTAGGAGTCTGAGGCAGGGCTAAGGACCCTTGAGGGATAATGGAAAGAAGGGTGACGGCTTGGGAACTGGTGAGGTACTAGGGTCTACTTCCCTCTGCCCTTGCCCCTCTTGATCTCCGGTTTCCACTCTGGAGGTATGGGACATTGGTCTCTGACACCCCCTCAGCCTGGCCTGACCTGGTCCTGGTTAATAAGACAGACCCAGGCTAGGCGTGGTGGCTGTCGCCTGTAATCCCAGTGCTTTAGGAGGCAAAGGTGGGAAGATCGCTTGAGCCCAGCTGTTTGAGACGCCCCTGAGCAACATAGCGAGACCCCCATCTCTACAAAAACATTAAAAATTAGCAGGGCATGGTGGCGTGTGCCTGCAGTCTGAGGCTGAGTATCGGGAGGCTGAGGCAGGAGGATCACTTGAGCCCAGCAGTTCCAGGCTGCAGTGCGCTAAGATCGCACCGCTGCACTCCAACCTCGGTGACAGAGCCAGACCCTTTCTCTGGAAATAAATAAATACCCTGCCCACATGCTCAGCCCAGAACAGCACCTAGTAGGTGCTCAGAAATTTTTTTGTTGTTGAAAGAAAGAGGATGGCAAAGGAGTGCTGAGGTTCCTATAGGTCAGCAGGTGCCGGCCATCCCTTCTGCAGGTTCTCCCACCCACCGCCTTCTTCACTCCACTCTGCAGGCTTTATGACTCCGGCAGAACACAAGCAGTTGGAGAAACTGAGCCTACCACACAACATGTTCTGGGTGCCCTGGGTGTGGTTTGCCAACCTGTCAATGAAGGCGTGGCTTGGAGGTCGAATCCGGGACCCTATCCTGCTCCAGAGCCTGCTGAACGTGAGCCCACTGTACAGACAGGGCTGCCGCAGAGTGGGAAGGGCTGTGGTCCACAGGAAACAAGGTTTCCTACAAAGAGAAGCCTTGGGCCCCTGAGGGTCTTCCGAGAGCCTGAGGTGGGGTTGCAGAATCTTTTCCAACAGCAATCCACAGCCCGAGGTGGTCCCTTCTCAGAGGCCCCTCCCTCTTCTCCAAGTCTGTGAGGTCCTGGTTCCCTTTTGATAGATGAGGAAGCTGAGACACAAAGAGGTTTAGTGAGCTTCCCATGGCCACACAGCCAGGAATGGACCATAGGTACCAGGCCCTGGTACCTGGAGAAGAGGTGGGGGCGAGCCCAGGGTGGGGGCAGGTGGTGTTCAGAACCCCATCCCCCTCTTCTGCCCCCCAGGAGATGAACACCTTGCGTACTCAGTGTGGACACCTGTATGCCTACGACTGGATTAGTATCCCACTGGTGTATACACAGGTGAGGACTAGGCTGGTGAGGCTGCCCTTTTGGGAAACTGAGGCTAGAAGGACCAAGGAAGCAGCTGGGGTGGGAAGGGCTCACCTAGAGGCTAAGTGGCTCCCCTGGGAGTTGGGTCCACACTTTGAAGTTGGGTCTGGACTTTGAAGTGCCAAGTTCTAAGAGTCCAGGCTCCTGCCTGGCCCAGTCCAGTAGAGGCAATGTGATTATCCCCATATTAAAGAGAGGTTGGCCGGGTGCAGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAAGCTGAGGCAGGTGGATCACCTGAGGTCAGGAGTTCGAGACCAGCCTGGCCAACATGGTGAAACCCCATCTCTACTGAAAATACAGAATTAGCTGTGTGGTGGTGCACGCCTGTAATCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATCGCTTGAACCCGGGAGGTGGAGGTTGCAGTGAGCTGAGATCATGCCACTGCACTCCAGCCTGGGCGACACAGCAAGACTCTGTCTCAAACAAACAAACAAACAAACAAACAAAGGGGTTAACAGAGCCCCTAAGTCACATAAGTGTGCAAGTCAGAACAAGGCCTTGGTCTCCTGTCTCAGACTCCCAGCCCCTGGAGCATCCTGATTTCAGGGTTCCCACCTAGCCCTTTGCTACCACATCCTCCTCCTCCTCCCAGGTGGTGACTGTGGCGGTGTACAGCTTCTTCCTGACTTGTCTAGTTGGGCGGCAGTTTCTGAACCCAGCCAAGGCCTACCCTGGCCATGAGCTGGACCTCGTTGTGCCCGTCTTCACGTTCCTGCAGTTCTTCTTCTATGTTGGCTGGCTGAAGGTGGGCCTCTCCAGGGCCCTGCTGGGCTGGAGGCATGGCCAGAGGGGTCATGGCCAGCAGCTGCCTGAGACGAGGATGCAGTGTCAGGAAAGGAAGGTCTCACGGGTAGAAAGCAGCCAGGCGTGGTGGCGCACACCTGTAATCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATCGCTTGAACCCGGGAGGCGGAGGTTGTGGTGAGTTGAGATCGTGCCACTGCACTCCAGCCTGGGCAAAAGAATGAAACTCTATCTCAAAAACAACAACAACAACAAAACAAAGCCCTAAGGTTCAGAAGCCCCTGCCCTTTAGAAGGCAGATCGGCACCACCTCTCCTTATTCAAGATGCCTGTTGGGCTGTCTTGTTCCTCACCTCAAGTGGCTTGTCCAGGTATTCCCTCCCACCACAGCCAATACTCCGAACAGATGTTCTGAATCACACAGTTTTCTCTCCACCTCTTTATCTTTCCTTCCTTCTGTTGCCCACCCACTCTCTCTCCCTTCCTACCTTCCTTTATTTTTTGGTAATGGGGGTGTAAGTCTCTGTCTCTGCCCTTCCTGTCACTGTGACACACACACACACACACACACACACACACACATACACACACACACACACGCATTCCTATTCCTCTAAATTCCCCCTGCCCCCCCAGTTATCTTTGGTTTCTGCAGATCAAAACAAATCACACTTTTATGCTTGAAATTCTCCGGGGTGCCCCAGTGGCCTGCAAGATGTCCCCTGGACCCCTAAGGCAGACGCGTGTCACCTCTTCGGGGCTTTGTTAGGGCATTTTAGAGGTTGCTATCCAGGAATCTGCCCACCTAGACTGCCCTTTAGTTCAGCCCAGCTTCAGTATATATCTCTGTTGCATGAATGAATAAAATTATGCAACTCCAGGTAAGATACATGAGGTGAGATAAAGGCAGTGACTCAGCCGAGTGATACACTCAGGGACAGCTGTGGGTGTTCAGGGAAGGACTGGCTCAGAAGAGTTAGAGGGGCTGTGTCCAGAAGTGTGTGGGTGCCCACAAGTGTGGGGGGCTGGAGCCCTAAACTCTGCCTTTGAAGACAGTGGTCAGGCAGGAAGGGCGTCATGGGGTGTGGAAATAGCAGCAGCTGAGGTTTAAAGGGGGAAGCTGGCTTTGAGGAGTTCTGCCTGAGGGTTTACAGAGCCTCACCTGTCCCCAAGGTGGCAGAGCAGCTCATCAACCCCTTTGGAGAGGATGATGATGATTTTGAGACCAACTGGATTGTCGACAGGAATTTGCAGGTATGGGGAGAGGGAGAGAAACCATACCATGGACCTTCCCCAAAGTGGACCCAAAGAGAGGACCCCACTGTTCTGTAGGGAGGCCTCACAGTGAATGATCAACCCTTCCCCTCCTCCCTCCTGCAGCCAGTCATTCACTCACAGGATTCTCACCTCAATCTTTGAGGCTGCAGGCAGGCACCCATCTCCCCATTTCACAGGCAGGGAAACTGAGGTCCAGAGAGAGGGAGAGATTCCTCCAAGTCATCAGGCACATACAAGGTCCTGCCTGGGATGATCTTTCTGTGGGACTTCTTCTGTCCCTGGTGACCAGGTGTCCCTGTTGGCTGTGGATGAGATGCACCAGGACCTGCCTCGGATGGAGCCGGACATGTACTGGAATAAGCCCGAGCCACAGCCCCCCTACACAGCTGCTTCCGCCCAGTTCCGTCGAGCCTCCTTTATGGGCTCCACCTTCAACATCAGGTGTGGCCAGAGCCAGGGGGCTGGGTGGGAAGCCCCTCCTAGTGCAGGGGTCTGCCTAGGAACTTAGAATAGCACTAGTTAATGCATACAGGTTGCTTCAGTAAGTGTCAGGCACTGTACTATGCTCTTTATAAACATTAACTATTTTTTTCCTCCC
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TTGGGCGGGACAGAGTCGGGTGTCTGAAGGTGGGGCGAGGCCAGGAGCCCACCCTCCGAGAGTAGGAGTCTGAGGCAGGGCTAAGGACCCTTGAGGGATAATGGAAAGAAGGGTGACGGCTTGGGAACTGGTGAGGTACTAGGGTCTACTTCCCTCTGCCCTTGCCCCTCTTGATCTCCGGTTTCCACTCTGGAGGTATGGGACATTGGTCTCTGACACCCCCTCAGCCTGGCCTGACCTGGTCCTGGTTAATAAGACAGACCCAGGCTAGGCGTGGTGGCTGTCGCCTGTAATCCCAGTGCTTTAGGAGGCAAAGGTGGGAAGATCGCTTGAGCCCAGCTGTTTGAGACGCCCCTGAGCAACATAGCGAGACCCCCATCTCTACAAAAACATTAAAAATTAGCAGGGCATGGTGGCGTGTGCCTGCAGTCTGAGGCTGAGTATCGGGAGGCTGAGGCAGGAGGATCACTTGAGCCCAGCAGTTCCAGGCTGCAGTGCGCTAAGATCGCACCGCTGCACTCCAACCTCGGTGACAGAGCCAGACCCTTTCTCTGGAAATAAATAAATACCCTGCCCACATGCTCAGCCCAGAACAGCACCTAGTAGGTGCTCAGAAATTTTTTTGTTGTTGAAAGAAAGAGGATGGCAAAGGAGTGCTGAGGTTCCTATAGGTCAGCAGGTGCCGGCCATCCCTTCTGCAGGTTCTCCCACCCACCGCCTTCTTCACTCCACTCTGCAGGCTTTATGACTCCGGCAGAACACAAGCAGTTGGAGAAACTGAGCCTACCACACAACATGTTCTGGGTGCCCTGGGTGTGGTTTGCCAACCTGTCAATGAAGGCGTGGCTTGGAGGTCGAATCCGGGACCCTATCCTGCTCCAGAGCCTGCTGAACGTGAGCCCACTGTACAGACAGGGCTGCCGCAGAGTGGGAAGGGCTGTGGTCCACAGGAAACAAGGTTTCCTACAAAGAGAAGCCTTGGGCCCCTGAGGGTCTTCCGAGAGCCTGAGGTGGGGTTGCAGAATCTTTTCCAACAGCAATCCACAGCCCGAGGTGGTCCCTTCTCAGAGGCCCCTCCCTCTTCTCCAAGTCTGTGAGGTCCTGGTTCCCTTTTGATAGATGAGGAAGCTGAGACACAAAGAGGTTTAGTGAGCTTCCCATGGCCACACAGCCAGGAATGGACCATAGGTACCAGGCCCTGGTACCTGGAGAAGAGGTGGGGGCGAGCCCAGGGTGGGGGCAGGTGGTGTTCAGAACCCCATCCCCCTCTTCTGCCCCCCAGGAGATGAACACCTTGCGTACTCAGTGTGGACACCTGTATGCCTACGACTGGATTAGTATCCCACTGGTGTATACACAGGTGAGGACTAGGCTGGTGAGGCTGCCCTTTTGGGAAACTGAGGCTAGAAGGACCAAGGAAGCAGCTGGGGTGGGAAGGGCTCACCTAGAGGCTAAGTGGCTCCCCTGGGAGTTGGGTCCACACTTTGAAGTTGGGTCTGGACTTTGAAGTGCCAAGTTCTAAGAGTCCAGGCTCCTGCCTGGCCCAGTCCAGTAGAGGCAATGTGATTATCCCCATATTAAAGAGAGGTTGGCCGGGTGCAGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAAGCTGAGGCAGGTGGATCACCTGAGGTCAGGAGTTCGAGACCAGCCTGGCCAACATGGTGAAACCCCATCTCTACTGAAAATACAGAATTAGCTGTGTGGTGGTGCACGCCTGTAATCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATCGCTTGAACCCGGGAGGTGGAGGTTGCAGTGAGCTGAGATCATGCCACTGCACTCCAGCCTGGGCGACACAGCAAGACTCTGTCTCAAACAAACAAACAAACAAACAAACAAAGGGGTTAACAGAGCCCCTAAGTCACATAAGTGTGCAAGTCAGAACAAGGCCTTGGTCTCCTGTCTCAGACTCCCAGCCCCTGGAGCATCCTGATTTCAGGGTTCCCACCTAGCCCTTTGCTACCACATCCTCCTCCTCCTCCCAGGTGGTGAATGTGGCGGTGTACAGCTTCTTCCTGACTTGTCTAGTTGGGCGGCAGTTTCTGAACCCAGCCAAGGCCTACCCTGGCCATGAGCTGGACCTCGTTGTGCCCGTCTTCACGTTCCTGCAGTTCTTCTTCTATGTTGGCTGGCTGAAGGTGGGCCTCTCCAGGGCCCTGCTGGGCTGGAGGCATGGCCAGAGGGGTCATGGCCAGCAGCTGCCTGAGACGAGGATGCAGTGTCAGGAAAGGAAGGTCTCACGGGTAGAAAGCAGCCAGGCGTGGTGGCGCACACCTGTAATCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATCGCTTGAACCCGGGAGGCGGAGGTTGTGGTGAGTTGAGATCGTGCCACTGCACTCCAGCCTGGGCAAAAGAATGAAACTCTATCTCAAAAACAACAACAACAACAAAACAAAGCCCTAAGGTTCAGAAGCCCCTGCCCTTTAGAAGGCAGATCGGCACCACCTCTCCTTATTCAAGATGCCTGTTGGGCTGTCTTGTTCCTCACCTCAAGTGGCTTGTCCAGGTATTCCCTCCCACCACAGCCAATACTCCGAACAGATGTTCTGAATCACACAGTTTTCTCTCCACCTCTTTATCTTTCCTTCCTTCTGTTGCCCACCCACTCTCTCTCCCTTCCTACCTTCCTTTATTTTTTGGTAATGGGGGTGTAAGTCTCTGTCTCTGCCCTTCCTGTCACTGTGACACACACACACACACACACACACACACACACATACACACACACACACACGCATTCCTATTCCTCTAAATTCCCCCTGCCCCCCCAGTTATCTTTGGTTTCTGCAGATCAAAACAAATCACACTTTTATGCTTGAAATTCTCCGGGGTGCCCCAGTGGCCTGCAAGATGTCCCCTGGACCCCTAAGGCAGACGCGTGTCACCTCTTCGGGGCTTTGTTAGGGCATTTTAGAGGTTGCTATCCAGGAATCTGCCCACCTAGACTGCCCTTTAGTTCAGCCCAGCTTCAGTATATATCTCTGTTGCATGAATGAATAAAATTATGCAACTCCAGGTAAGATACATGAGGTGAGATAAAGGCAGTGACTCAGCCGAGTGATACACTCAGGGACAGCTGTGGGTGTTCAGGGAAGGACTGGCTCAGAAGAGTTAGAGGGGCTGTGTCCAGAAGTGTGTGGGTGCCCACAAGTGTGGGGGGCTGGAGCCCTAAACTCTGCCTTTGAAGACAGTGGTCAGGCAGGAAGGGCGTCATGGGGTGTGGAAATAGCAGCAGCTGAGGTTTAAAGGGGGAAGCTGGCTTTGAGGAGTTCTGCCTGAGGGTTTACAGAGCCTCACCTGTCCCCAAGGTGGCAGAGCAGCTCATCAACCCCTTTGGAGAGGATGATGATGATTTTGAGACCAACTGGATTGTCGACAGGAATTTGCAGGTATGGGGAGAGGGAGAGAAACCATACCATGGACCTTCCCCAAAGTGGACCCAAAGAGAGGACCCCACTGTTCTGTAGGGAGGCCTCACAGTGAATGATCAACCCTTCCCCTCCTCCCTCCTGCAGCCAGTCATTCACTCACAGGATTCTCACCTCAATCTTTGAGGCTGCAGGCAGGCACCCATCTCCCCATTTCACAGGCAGGGAAACTGAGGTCCAGAGAGAGGGAGAGATTCCTCCAAGTCATCAGGCACATACAAGGTCCTGCCTGGGATGATCTTTCTGTGGGACTTCTTCTGTCCCTGGTGACCAGGTGTCCCTGTTGGCTGTGGATGAGATGCACCAGGACCTGCCTCGGATGGAGCCGGACATGTACTGGAATAAGCCCGAGCCACAGCCCCCCTACACAGCTGCTTCCGCCCAGTTCCGTCGAGCCTCCTTTATGGGCTCCACCTTCAACATCAGGTGTGGCCAGAGCCAGGGGGCTGGGTGGGAAGCCCCTCCTAGTGCAGGGGTCTGCCTAGGAACTTAGAATAGCACTAGTTAATGCATACAGGTTGCTTCAGTAAGTGTCAGGCACTGTACTATGCTCTTTATAAACATTAACTATTTTTTTCCTCCC
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Task1_train_15925
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The gene BEST1 (bestrophin 1), on Chromosome 11, contains a mutation. Does this mutation cause a disorder, or is it a benign change?
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Pathogenic; not provided
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GGGCGGGACAGAGTCGGGTGTCTGAAGGTGGGGCGAGGCCAGGAGCCCACCCTCCGAGAGTAGGAGTCTGAGGCAGGGCTAAGGACCCTTGAGGGATAATGGAAAGAAGGGTGACGGCTTGGGAACTGGTGAGGTACTAGGGTCTACTTCCCTCTGCCCTTGCCCCTCTTGATCTCCGGTTTCCACTCTGGAGGTATGGGACATTGGTCTCTGACACCCCCTCAGCCTGGCCTGACCTGGTCCTGGTTAATAAGACAGACCCAGGCTAGGCGTGGTGGCTGTCGCCTGTAATCCCAGTGCTTTAGGAGGCAAAGGTGGGAAGATCGCTTGAGCCCAGCTGTTTGAGACGCCCCTGAGCAACATAGCGAGACCCCCATCTCTACAAAAACATTAAAAATTAGCAGGGCATGGTGGCGTGTGCCTGCAGTCTGAGGCTGAGTATCGGGAGGCTGAGGCAGGAGGATCACTTGAGCCCAGCAGTTCCAGGCTGCAGTGCGCTAAGATCGCACCGCTGCACTCCAACCTCGGTGACAGAGCCAGACCCTTTCTCTGGAAATAAATAAATACCCTGCCCACATGCTCAGCCCAGAACAGCACCTAGTAGGTGCTCAGAAATTTTTTTGTTGTTGAAAGAAAGAGGATGGCAAAGGAGTGCTGAGGTTCCTATAGGTCAGCAGGTGCCGGCCATCCCTTCTGCAGGTTCTCCCACCCACCGCCTTCTTCACTCCACTCTGCAGGCTTTATGACTCCGGCAGAACACAAGCAGTTGGAGAAACTGAGCCTACCACACAACATGTTCTGGGTGCCCTGGGTGTGGTTTGCCAACCTGTCAATGAAGGCGTGGCTTGGAGGTCGAATCCGGGACCCTATCCTGCTCCAGAGCCTGCTGAACGTGAGCCCACTGTACAGACAGGGCTGCCGCAGAGTGGGAAGGGCTGTGGTCCACAGGAAACAAGGTTTCCTACAAAGAGAAGCCTTGGGCCCCTGAGGGTCTTCCGAGAGCCTGAGGTGGGGTTGCAGAATCTTTTCCAACAGCAATCCACAGCCCGAGGTGGTCCCTTCTCAGAGGCCCCTCCCTCTTCTCCAAGTCTGTGAGGTCCTGGTTCCCTTTTGATAGATGAGGAAGCTGAGACACAAAGAGGTTTAGTGAGCTTCCCATGGCCACACAGCCAGGAATGGACCATAGGTACCAGGCCCTGGTACCTGGAGAAGAGGTGGGGGCGAGCCCAGGGTGGGGGCAGGTGGTGTTCAGAACCCCATCCCCCTCTTCTGCCCCCCAGGAGATGAACACCTTGCGTACTCAGTGTGGACACCTGTATGCCTACGACTGGATTAGTATCCCACTGGTGTATACACAGGTGAGGACTAGGCTGGTGAGGCTGCCCTTTTGGGAAACTGAGGCTAGAAGGACCAAGGAAGCAGCTGGGGTGGGAAGGGCTCACCTAGAGGCTAAGTGGCTCCCCTGGGAGTTGGGTCCACACTTTGAAGTTGGGTCTGGACTTTGAAGTGCCAAGTTCTAAGAGTCCAGGCTCCTGCCTGGCCCAGTCCAGTAGAGGCAATGTGATTATCCCCATATTAAAGAGAGGTTGGCCGGGTGCAGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAAGCTGAGGCAGGTGGATCACCTGAGGTCAGGAGTTCGAGACCAGCCTGGCCAACATGGTGAAACCCCATCTCTACTGAAAATACAGAATTAGCTGTGTGGTGGTGCACGCCTGTAATCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATCGCTTGAACCCGGGAGGTGGAGGTTGCAGTGAGCTGAGATCATGCCACTGCACTCCAGCCTGGGCGACACAGCAAGACTCTGTCTCAAACAAACAAACAAACAAACAAACAAAGGGGTTAACAGAGCCCCTAAGTCACATAAGTGTGCAAGTCAGAACAAGGCCTTGGTCTCCTGTCTCAGACTCCCAGCCCCTGGAGCATCCTGATTTCAGGGTTCCCACCTAGCCCTTTGCTACCACATCCTCCTCCTCCTCCCAGGTGGTGACTGTGGCGGTGTACAGCTTCTTCCTGACTTGTCTAGTTGGGCGGCAGTTTCTGAACCCAGCCAAGGCCTACCCTGGCCATGAGCTGGACCTCGTTGTGCCCGTCTTCACGTTCCTGCAGTTCTTCTTCTATGTTGGCTGGCTGAAGGTGGGCCTCTCCAGGGCCCTGCTGGGCTGGAGGCATGGCCAGAGGGGTCATGGCCAGCAGCTGCCTGAGACGAGGATGCAGTGTCAGGAAAGGAAGGTCTCACGGGTAGAAAGCAGCCAGGCGTGGTGGCGCACACCTGTAATCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATCGCTTGAACCCGGGAGGCGGAGGTTGTGGTGAGTTGAGATCGTGCCACTGCACTCCAGCCTGGGCAAAAGAATGAAACTCTATCTCAAAAACAACAACAACAACAAAACAAAGCCCTAAGGTTCAGAAGCCCCTGCCCTTTAGAAGGCAGATCGGCACCACCTCTCCTTATTCAAGATGCCTGTTGGGCTGTCTTGTTCCTCACCTCAAGTGGCTTGTCCAGGTATTCCCTCCCACCACAGCCAATACTCCGAACAGATGTTCTGAATCACACAGTTTTCTCTCCACCTCTTTATCTTTCCTTCCTTCTGTTGCCCACCCACTCTCTCTCCCTTCCTACCTTCCTTTATTTTTTGGTAATGGGGGTGTAAGTCTCTGTCTCTGCCCTTCCTGTCACTGTGACACACACACACACACACACACACACACACACATACACACACACACACACGCATTCCTATTCCTCTAAATTCCCCCTGCCCCCCCAGTTATCTTTGGTTTCTGCAGATCAAAACAAATCACACTTTTATGCTTGAAATTCTCCGGGGTGCCCCAGTGGCCTGCAAGATGTCCCCTGGACCCCTAAGGCAGACGCGTGTCACCTCTTCGGGGCTTTGTTAGGGCATTTTAGAGGTTGCTATCCAGGAATCTGCCCACCTAGACTGCCCTTTAGTTCAGCCCAGCTTCAGTATATATCTCTGTTGCATGAATGAATAAAATTATGCAACTCCAGGTAAGATACATGAGGTGAGATAAAGGCAGTGACTCAGCCGAGTGATACACTCAGGGACAGCTGTGGGTGTTCAGGGAAGGACTGGCTCAGAAGAGTTAGAGGGGCTGTGTCCAGAAGTGTGTGGGTGCCCACAAGTGTGGGGGGCTGGAGCCCTAAACTCTGCCTTTGAAGACAGTGGTCAGGCAGGAAGGGCGTCATGGGGTGTGGAAATAGCAGCAGCTGAGGTTTAAAGGGGGAAGCTGGCTTTGAGGAGTTCTGCCTGAGGGTTTACAGAGCCTCACCTGTCCCCAAGGTGGCAGAGCAGCTCATCAACCCCTTTGGAGAGGATGATGATGATTTTGAGACCAACTGGATTGTCGACAGGAATTTGCAGGTATGGGGAGAGGGAGAGAAACCATACCATGGACCTTCCCCAAAGTGGACCCAAAGAGAGGACCCCACTGTTCTGTAGGGAGGCCTCACAGTGAATGATCAACCCTTCCCCTCCTCCCTCCTGCAGCCAGTCATTCACTCACAGGATTCTCACCTCAATCTTTGAGGCTGCAGGCAGGCACCCATCTCCCCATTTCACAGGCAGGGAAACTGAGGTCCAGAGAGAGGGAGAGATTCCTCCAAGTCATCAGGCACATACAAGGTCCTGCCTGGGATGATCTTTCTGTGGGACTTCTTCTGTCCCTGGTGACCAGGTGTCCCTGTTGGCTGTGGATGAGATGCACCAGGACCTGCCTCGGATGGAGCCGGACATGTACTGGAATAAGCCCGAGCCACAGCCCCCCTACACAGCTGCTTCCGCCCAGTTCCGTCGAGCCTCCTTTATGGGCTCCACCTTCAACATCAGGTGTGGCCAGAGCCAGGGGGCTGGGTGGGAAGCCCCTCCTAGTGCAGGGGTCTGCCTAGGAACTTAGAATAGCACTAGTTAATGCATACAGGTTGCTTCAGTAAGTGTCAGGCACTGTACTATGCTCTTTATAAACATTAACTATTTTTTTCCTCCCAA
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GGGCGGGACAGAGTCGGGTGTCTGAAGGTGGGGCGAGGCCAGGAGCCCACCCTCCGAGAGTAGGAGTCTGAGGCAGGGCTAAGGACCCTTGAGGGATAATGGAAAGAAGGGTGACGGCTTGGGAACTGGTGAGGTACTAGGGTCTACTTCCCTCTGCCCTTGCCCCTCTTGATCTCCGGTTTCCACTCTGGAGGTATGGGACATTGGTCTCTGACACCCCCTCAGCCTGGCCTGACCTGGTCCTGGTTAATAAGACAGACCCAGGCTAGGCGTGGTGGCTGTCGCCTGTAATCCCAGTGCTTTAGGAGGCAAAGGTGGGAAGATCGCTTGAGCCCAGCTGTTTGAGACGCCCCTGAGCAACATAGCGAGACCCCCATCTCTACAAAAACATTAAAAATTAGCAGGGCATGGTGGCGTGTGCCTGCAGTCTGAGGCTGAGTATCGGGAGGCTGAGGCAGGAGGATCACTTGAGCCCAGCAGTTCCAGGCTGCAGTGCGCTAAGATCGCACCGCTGCACTCCAACCTCGGTGACAGAGCCAGACCCTTTCTCTGGAAATAAATAAATACCCTGCCCACATGCTCAGCCCAGAACAGCACCTAGTAGGTGCTCAGAAATTTTTTTGTTGTTGAAAGAAAGAGGATGGCAAAGGAGTGCTGAGGTTCCTATAGGTCAGCAGGTGCCGGCCATCCCTTCTGCAGGTTCTCCCACCCACCGCCTTCTTCACTCCACTCTGCAGGCTTTATGACTCCGGCAGAACACAAGCAGTTGGAGAAACTGAGCCTACCACACAACATGTTCTGGGTGCCCTGGGTGTGGTTTGCCAACCTGTCAATGAAGGCGTGGCTTGGAGGTCGAATCCGGGACCCTATCCTGCTCCAGAGCCTGCTGAACGTGAGCCCACTGTACAGACAGGGCTGCCGCAGAGTGGGAAGGGCTGTGGTCCACAGGAAACAAGGTTTCCTACAAAGAGAAGCCTTGGGCCCCTGAGGGTCTTCCGAGAGCCTGAGGTGGGGTTGCAGAATCTTTTCCAACAGCAATCCACAGCCCGAGGTGGTCCCTTCTCAGAGGCCCCTCCCTCTTCTCCAAGTCTGTGAGGTCCTGGTTCCCTTTTGATAGATGAGGAAGCTGAGACACAAAGAGGTTTAGTGAGCTTCCCATGGCCACACAGCCAGGAATGGACCATAGGTACCAGGCCCTGGTACCTGGAGAAGAGGTGGGGGCGAGCCCAGGGTGGGGGCAGGTGGTGTTCAGAACCCCATCCCCCTCTTCTGCCCCCCAGGAGATGAACACCTTGCGTACTCAGTGTGGACACCTGTATGCCTACGACTGGATTAGTATCCCACTGGTGTATACACAGGTGAGGACTAGGCTGGTGAGGCTGCCCTTTTGGGAAACTGAGGCTAGAAGGACCAAGGAAGCAGCTGGGGTGGGAAGGGCTCACCTAGAGGCTAAGTGGCTCCCCTGGGAGTTGGGTCCACACTTTGAAGTTGGGTCTGGACTTTGAAGTGCCAAGTTCTAAGAGTCCAGGCTCCTGCCTGGCCCAGTCCAGTAGAGGCAATGTGATTATCCCCATATTAAAGAGAGGTTGGCCGGGTGCAGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAAGCTGAGGCAGGTGGATCACCTGAGGTCAGGAGTTCGAGACCAGCCTGGCCAACATGGTGAAACCCCATCTCTACTGAAAATACAGAATTAGCTGTGTGGTGGTGCACGCCTGTAATCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATCGCTTGAACCCGGGAGGTGGAGGTTGCAGTGAGCTGAGATCATGCCACTGCACTCCAGCCTGGGCGACACAGCAAGACTCTGTCTCAAACAAACAAACAAACAAACAAACAAAGGGGTTAACAGAGCCCCTAAGTCACATAAGTGTGCAAGTCAGAACAAGGCCTTGGTCTCCTGTCTCAGACTCCCAGCCCCTGGAGCATCCTGATTTCAGGGTTCCCACCTAGCCCTTTGCTACCACATCCTCCTCCTCCTCCCAGGTGGTGACTATGGCGGTGTACAGCTTCTTCCTGACTTGTCTAGTTGGGCGGCAGTTTCTGAACCCAGCCAAGGCCTACCCTGGCCATGAGCTGGACCTCGTTGTGCCCGTCTTCACGTTCCTGCAGTTCTTCTTCTATGTTGGCTGGCTGAAGGTGGGCCTCTCCAGGGCCCTGCTGGGCTGGAGGCATGGCCAGAGGGGTCATGGCCAGCAGCTGCCTGAGACGAGGATGCAGTGTCAGGAAAGGAAGGTCTCACGGGTAGAAAGCAGCCAGGCGTGGTGGCGCACACCTGTAATCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATCGCTTGAACCCGGGAGGCGGAGGTTGTGGTGAGTTGAGATCGTGCCACTGCACTCCAGCCTGGGCAAAAGAATGAAACTCTATCTCAAAAACAACAACAACAACAAAACAAAGCCCTAAGGTTCAGAAGCCCCTGCCCTTTAGAAGGCAGATCGGCACCACCTCTCCTTATTCAAGATGCCTGTTGGGCTGTCTTGTTCCTCACCTCAAGTGGCTTGTCCAGGTATTCCCTCCCACCACAGCCAATACTCCGAACAGATGTTCTGAATCACACAGTTTTCTCTCCACCTCTTTATCTTTCCTTCCTTCTGTTGCCCACCCACTCTCTCTCCCTTCCTACCTTCCTTTATTTTTTGGTAATGGGGGTGTAAGTCTCTGTCTCTGCCCTTCCTGTCACTGTGACACACACACACACACACACACACACACACACATACACACACACACACACGCATTCCTATTCCTCTAAATTCCCCCTGCCCCCCCAGTTATCTTTGGTTTCTGCAGATCAAAACAAATCACACTTTTATGCTTGAAATTCTCCGGGGTGCCCCAGTGGCCTGCAAGATGTCCCCTGGACCCCTAAGGCAGACGCGTGTCACCTCTTCGGGGCTTTGTTAGGGCATTTTAGAGGTTGCTATCCAGGAATCTGCCCACCTAGACTGCCCTTTAGTTCAGCCCAGCTTCAGTATATATCTCTGTTGCATGAATGAATAAAATTATGCAACTCCAGGTAAGATACATGAGGTGAGATAAAGGCAGTGACTCAGCCGAGTGATACACTCAGGGACAGCTGTGGGTGTTCAGGGAAGGACTGGCTCAGAAGAGTTAGAGGGGCTGTGTCCAGAAGTGTGTGGGTGCCCACAAGTGTGGGGGGCTGGAGCCCTAAACTCTGCCTTTGAAGACAGTGGTCAGGCAGGAAGGGCGTCATGGGGTGTGGAAATAGCAGCAGCTGAGGTTTAAAGGGGGAAGCTGGCTTTGAGGAGTTCTGCCTGAGGGTTTACAGAGCCTCACCTGTCCCCAAGGTGGCAGAGCAGCTCATCAACCCCTTTGGAGAGGATGATGATGATTTTGAGACCAACTGGATTGTCGACAGGAATTTGCAGGTATGGGGAGAGGGAGAGAAACCATACCATGGACCTTCCCCAAAGTGGACCCAAAGAGAGGACCCCACTGTTCTGTAGGGAGGCCTCACAGTGAATGATCAACCCTTCCCCTCCTCCCTCCTGCAGCCAGTCATTCACTCACAGGATTCTCACCTCAATCTTTGAGGCTGCAGGCAGGCACCCATCTCCCCATTTCACAGGCAGGGAAACTGAGGTCCAGAGAGAGGGAGAGATTCCTCCAAGTCATCAGGCACATACAAGGTCCTGCCTGGGATGATCTTTCTGTGGGACTTCTTCTGTCCCTGGTGACCAGGTGTCCCTGTTGGCTGTGGATGAGATGCACCAGGACCTGCCTCGGATGGAGCCGGACATGTACTGGAATAAGCCCGAGCCACAGCCCCCCTACACAGCTGCTTCCGCCCAGTTCCGTCGAGCCTCCTTTATGGGCTCCACCTTCAACATCAGGTGTGGCCAGAGCCAGGGGGCTGGGTGGGAAGCCCCTCCTAGTGCAGGGGTCTGCCTAGGAACTTAGAATAGCACTAGTTAATGCATACAGGTTGCTTCAGTAAGTGTCAGGCACTGTACTATGCTCTTTATAAACATTAACTATTTTTTTCCTCCCAA
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Task1_train_15926
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Chromosome 11 houses a mutation in gene BEST1 (bestrophin 1). Classify its clinical impact — is it pathogenic or benign, and what disease does it lead to if any?
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Pathogenic; Retinal dystrophy
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CGGGACAGAGTCGGGTGTCTGAAGGTGGGGCGAGGCCAGGAGCCCACCCTCCGAGAGTAGGAGTCTGAGGCAGGGCTAAGGACCCTTGAGGGATAATGGAAAGAAGGGTGACGGCTTGGGAACTGGTGAGGTACTAGGGTCTACTTCCCTCTGCCCTTGCCCCTCTTGATCTCCGGTTTCCACTCTGGAGGTATGGGACATTGGTCTCTGACACCCCCTCAGCCTGGCCTGACCTGGTCCTGGTTAATAAGACAGACCCAGGCTAGGCGTGGTGGCTGTCGCCTGTAATCCCAGTGCTTTAGGAGGCAAAGGTGGGAAGATCGCTTGAGCCCAGCTGTTTGAGACGCCCCTGAGCAACATAGCGAGACCCCCATCTCTACAAAAACATTAAAAATTAGCAGGGCATGGTGGCGTGTGCCTGCAGTCTGAGGCTGAGTATCGGGAGGCTGAGGCAGGAGGATCACTTGAGCCCAGCAGTTCCAGGCTGCAGTGCGCTAAGATCGCACCGCTGCACTCCAACCTCGGTGACAGAGCCAGACCCTTTCTCTGGAAATAAATAAATACCCTGCCCACATGCTCAGCCCAGAACAGCACCTAGTAGGTGCTCAGAAATTTTTTTGTTGTTGAAAGAAAGAGGATGGCAAAGGAGTGCTGAGGTTCCTATAGGTCAGCAGGTGCCGGCCATCCCTTCTGCAGGTTCTCCCACCCACCGCCTTCTTCACTCCACTCTGCAGGCTTTATGACTCCGGCAGAACACAAGCAGTTGGAGAAACTGAGCCTACCACACAACATGTTCTGGGTGCCCTGGGTGTGGTTTGCCAACCTGTCAATGAAGGCGTGGCTTGGAGGTCGAATCCGGGACCCTATCCTGCTCCAGAGCCTGCTGAACGTGAGCCCACTGTACAGACAGGGCTGCCGCAGAGTGGGAAGGGCTGTGGTCCACAGGAAACAAGGTTTCCTACAAAGAGAAGCCTTGGGCCCCTGAGGGTCTTCCGAGAGCCTGAGGTGGGGTTGCAGAATCTTTTCCAACAGCAATCCACAGCCCGAGGTGGTCCCTTCTCAGAGGCCCCTCCCTCTTCTCCAAGTCTGTGAGGTCCTGGTTCCCTTTTGATAGATGAGGAAGCTGAGACACAAAGAGGTTTAGTGAGCTTCCCATGGCCACACAGCCAGGAATGGACCATAGGTACCAGGCCCTGGTACCTGGAGAAGAGGTGGGGGCGAGCCCAGGGTGGGGGCAGGTGGTGTTCAGAACCCCATCCCCCTCTTCTGCCCCCCAGGAGATGAACACCTTGCGTACTCAGTGTGGACACCTGTATGCCTACGACTGGATTAGTATCCCACTGGTGTATACACAGGTGAGGACTAGGCTGGTGAGGCTGCCCTTTTGGGAAACTGAGGCTAGAAGGACCAAGGAAGCAGCTGGGGTGGGAAGGGCTCACCTAGAGGCTAAGTGGCTCCCCTGGGAGTTGGGTCCACACTTTGAAGTTGGGTCTGGACTTTGAAGTGCCAAGTTCTAAGAGTCCAGGCTCCTGCCTGGCCCAGTCCAGTAGAGGCAATGTGATTATCCCCATATTAAAGAGAGGTTGGCCGGGTGCAGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAAGCTGAGGCAGGTGGATCACCTGAGGTCAGGAGTTCGAGACCAGCCTGGCCAACATGGTGAAACCCCATCTCTACTGAAAATACAGAATTAGCTGTGTGGTGGTGCACGCCTGTAATCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATCGCTTGAACCCGGGAGGTGGAGGTTGCAGTGAGCTGAGATCATGCCACTGCACTCCAGCCTGGGCGACACAGCAAGACTCTGTCTCAAACAAACAAACAAACAAACAAACAAAGGGGTTAACAGAGCCCCTAAGTCACATAAGTGTGCAAGTCAGAACAAGGCCTTGGTCTCCTGTCTCAGACTCCCAGCCCCTGGAGCATCCTGATTTCAGGGTTCCCACCTAGCCCTTTGCTACCACATCCTCCTCCTCCTCCCAGGTGGTGACTGTGGCGGTGTACAGCTTCTTCCTGACTTGTCTAGTTGGGCGGCAGTTTCTGAACCCAGCCAAGGCCTACCCTGGCCATGAGCTGGACCTCGTTGTGCCCGTCTTCACGTTCCTGCAGTTCTTCTTCTATGTTGGCTGGCTGAAGGTGGGCCTCTCCAGGGCCCTGCTGGGCTGGAGGCATGGCCAGAGGGGTCATGGCCAGCAGCTGCCTGAGACGAGGATGCAGTGTCAGGAAAGGAAGGTCTCACGGGTAGAAAGCAGCCAGGCGTGGTGGCGCACACCTGTAATCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATCGCTTGAACCCGGGAGGCGGAGGTTGTGGTGAGTTGAGATCGTGCCACTGCACTCCAGCCTGGGCAAAAGAATGAAACTCTATCTCAAAAACAACAACAACAACAAAACAAAGCCCTAAGGTTCAGAAGCCCCTGCCCTTTAGAAGGCAGATCGGCACCACCTCTCCTTATTCAAGATGCCTGTTGGGCTGTCTTGTTCCTCACCTCAAGTGGCTTGTCCAGGTATTCCCTCCCACCACAGCCAATACTCCGAACAGATGTTCTGAATCACACAGTTTTCTCTCCACCTCTTTATCTTTCCTTCCTTCTGTTGCCCACCCACTCTCTCTCCCTTCCTACCTTCCTTTATTTTTTGGTAATGGGGGTGTAAGTCTCTGTCTCTGCCCTTCCTGTCACTGTGACACACACACACACACACACACACACACACACATACACACACACACACACGCATTCCTATTCCTCTAAATTCCCCCTGCCCCCCCAGTTATCTTTGGTTTCTGCAGATCAAAACAAATCACACTTTTATGCTTGAAATTCTCCGGGGTGCCCCAGTGGCCTGCAAGATGTCCCCTGGACCCCTAAGGCAGACGCGTGTCACCTCTTCGGGGCTTTGTTAGGGCATTTTAGAGGTTGCTATCCAGGAATCTGCCCACCTAGACTGCCCTTTAGTTCAGCCCAGCTTCAGTATATATCTCTGTTGCATGAATGAATAAAATTATGCAACTCCAGGTAAGATACATGAGGTGAGATAAAGGCAGTGACTCAGCCGAGTGATACACTCAGGGACAGCTGTGGGTGTTCAGGGAAGGACTGGCTCAGAAGAGTTAGAGGGGCTGTGTCCAGAAGTGTGTGGGTGCCCACAAGTGTGGGGGGCTGGAGCCCTAAACTCTGCCTTTGAAGACAGTGGTCAGGCAGGAAGGGCGTCATGGGGTGTGGAAATAGCAGCAGCTGAGGTTTAAAGGGGGAAGCTGGCTTTGAGGAGTTCTGCCTGAGGGTTTACAGAGCCTCACCTGTCCCCAAGGTGGCAGAGCAGCTCATCAACCCCTTTGGAGAGGATGATGATGATTTTGAGACCAACTGGATTGTCGACAGGAATTTGCAGGTATGGGGAGAGGGAGAGAAACCATACCATGGACCTTCCCCAAAGTGGACCCAAAGAGAGGACCCCACTGTTCTGTAGGGAGGCCTCACAGTGAATGATCAACCCTTCCCCTCCTCCCTCCTGCAGCCAGTCATTCACTCACAGGATTCTCACCTCAATCTTTGAGGCTGCAGGCAGGCACCCATCTCCCCATTTCACAGGCAGGGAAACTGAGGTCCAGAGAGAGGGAGAGATTCCTCCAAGTCATCAGGCACATACAAGGTCCTGCCTGGGATGATCTTTCTGTGGGACTTCTTCTGTCCCTGGTGACCAGGTGTCCCTGTTGGCTGTGGATGAGATGCACCAGGACCTGCCTCGGATGGAGCCGGACATGTACTGGAATAAGCCCGAGCCACAGCCCCCCTACACAGCTGCTTCCGCCCAGTTCCGTCGAGCCTCCTTTATGGGCTCCACCTTCAACATCAGGTGTGGCCAGAGCCAGGGGGCTGGGTGGGAAGCCCCTCCTAGTGCAGGGGTCTGCCTAGGAACTTAGAATAGCACTAGTTAATGCATACAGGTTGCTTCAGTAAGTGTCAGGCACTGTACTATGCTCTTTATAAACATTAACTATTTTTTTCCTCCCAATAA
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CGGGACAGAGTCGGGTGTCTGAAGGTGGGGCGAGGCCAGGAGCCCACCCTCCGAGAGTAGGAGTCTGAGGCAGGGCTAAGGACCCTTGAGGGATAATGGAAAGAAGGGTGACGGCTTGGGAACTGGTGAGGTACTAGGGTCTACTTCCCTCTGCCCTTGCCCCTCTTGATCTCCGGTTTCCACTCTGGAGGTATGGGACATTGGTCTCTGACACCCCCTCAGCCTGGCCTGACCTGGTCCTGGTTAATAAGACAGACCCAGGCTAGGCGTGGTGGCTGTCGCCTGTAATCCCAGTGCTTTAGGAGGCAAAGGTGGGAAGATCGCTTGAGCCCAGCTGTTTGAGACGCCCCTGAGCAACATAGCGAGACCCCCATCTCTACAAAAACATTAAAAATTAGCAGGGCATGGTGGCGTGTGCCTGCAGTCTGAGGCTGAGTATCGGGAGGCTGAGGCAGGAGGATCACTTGAGCCCAGCAGTTCCAGGCTGCAGTGCGCTAAGATCGCACCGCTGCACTCCAACCTCGGTGACAGAGCCAGACCCTTTCTCTGGAAATAAATAAATACCCTGCCCACATGCTCAGCCCAGAACAGCACCTAGTAGGTGCTCAGAAATTTTTTTGTTGTTGAAAGAAAGAGGATGGCAAAGGAGTGCTGAGGTTCCTATAGGTCAGCAGGTGCCGGCCATCCCTTCTGCAGGTTCTCCCACCCACCGCCTTCTTCACTCCACTCTGCAGGCTTTATGACTCCGGCAGAACACAAGCAGTTGGAGAAACTGAGCCTACCACACAACATGTTCTGGGTGCCCTGGGTGTGGTTTGCCAACCTGTCAATGAAGGCGTGGCTTGGAGGTCGAATCCGGGACCCTATCCTGCTCCAGAGCCTGCTGAACGTGAGCCCACTGTACAGACAGGGCTGCCGCAGAGTGGGAAGGGCTGTGGTCCACAGGAAACAAGGTTTCCTACAAAGAGAAGCCTTGGGCCCCTGAGGGTCTTCCGAGAGCCTGAGGTGGGGTTGCAGAATCTTTTCCAACAGCAATCCACAGCCCGAGGTGGTCCCTTCTCAGAGGCCCCTCCCTCTTCTCCAAGTCTGTGAGGTCCTGGTTCCCTTTTGATAGATGAGGAAGCTGAGACACAAAGAGGTTTAGTGAGCTTCCCATGGCCACACAGCCAGGAATGGACCATAGGTACCAGGCCCTGGTACCTGGAGAAGAGGTGGGGGCGAGCCCAGGGTGGGGGCAGGTGGTGTTCAGAACCCCATCCCCCTCTTCTGCCCCCCAGGAGATGAACACCTTGCGTACTCAGTGTGGACACCTGTATGCCTACGACTGGATTAGTATCCCACTGGTGTATACACAGGTGAGGACTAGGCTGGTGAGGCTGCCCTTTTGGGAAACTGAGGCTAGAAGGACCAAGGAAGCAGCTGGGGTGGGAAGGGCTCACCTAGAGGCTAAGTGGCTCCCCTGGGAGTTGGGTCCACACTTTGAAGTTGGGTCTGGACTTTGAAGTGCCAAGTTCTAAGAGTCCAGGCTCCTGCCTGGCCCAGTCCAGTAGAGGCAATGTGATTATCCCCATATTAAAGAGAGGTTGGCCGGGTGCAGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAAGCTGAGGCAGGTGGATCACCTGAGGTCAGGAGTTCGAGACCAGCCTGGCCAACATGGTGAAACCCCATCTCTACTGAAAATACAGAATTAGCTGTGTGGTGGTGCACGCCTGTAATCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATCGCTTGAACCCGGGAGGTGGAGGTTGCAGTGAGCTGAGATCATGCCACTGCACTCCAGCCTGGGCGACACAGCAAGACTCTGTCTCAAACAAACAAACAAACAAACAAACAAAGGGGTTAACAGAGCCCCTAAGTCACATAAGTGTGCAAGTCAGAACAAGGCCTTGGTCTCCTGTCTCAGACTCCCAGCCCCTGGAGCATCCTGATTTCAGGGTTCCCACCTAGCCCTTTGCTACCACATCCTCCTCCTCCTCCCAGGTGGTGACTGTGACGGTGTACAGCTTCTTCCTGACTTGTCTAGTTGGGCGGCAGTTTCTGAACCCAGCCAAGGCCTACCCTGGCCATGAGCTGGACCTCGTTGTGCCCGTCTTCACGTTCCTGCAGTTCTTCTTCTATGTTGGCTGGCTGAAGGTGGGCCTCTCCAGGGCCCTGCTGGGCTGGAGGCATGGCCAGAGGGGTCATGGCCAGCAGCTGCCTGAGACGAGGATGCAGTGTCAGGAAAGGAAGGTCTCACGGGTAGAAAGCAGCCAGGCGTGGTGGCGCACACCTGTAATCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATCGCTTGAACCCGGGAGGCGGAGGTTGTGGTGAGTTGAGATCGTGCCACTGCACTCCAGCCTGGGCAAAAGAATGAAACTCTATCTCAAAAACAACAACAACAACAAAACAAAGCCCTAAGGTTCAGAAGCCCCTGCCCTTTAGAAGGCAGATCGGCACCACCTCTCCTTATTCAAGATGCCTGTTGGGCTGTCTTGTTCCTCACCTCAAGTGGCTTGTCCAGGTATTCCCTCCCACCACAGCCAATACTCCGAACAGATGTTCTGAATCACACAGTTTTCTCTCCACCTCTTTATCTTTCCTTCCTTCTGTTGCCCACCCACTCTCTCTCCCTTCCTACCTTCCTTTATTTTTTGGTAATGGGGGTGTAAGTCTCTGTCTCTGCCCTTCCTGTCACTGTGACACACACACACACACACACACACACACACACATACACACACACACACACGCATTCCTATTCCTCTAAATTCCCCCTGCCCCCCCAGTTATCTTTGGTTTCTGCAGATCAAAACAAATCACACTTTTATGCTTGAAATTCTCCGGGGTGCCCCAGTGGCCTGCAAGATGTCCCCTGGACCCCTAAGGCAGACGCGTGTCACCTCTTCGGGGCTTTGTTAGGGCATTTTAGAGGTTGCTATCCAGGAATCTGCCCACCTAGACTGCCCTTTAGTTCAGCCCAGCTTCAGTATATATCTCTGTTGCATGAATGAATAAAATTATGCAACTCCAGGTAAGATACATGAGGTGAGATAAAGGCAGTGACTCAGCCGAGTGATACACTCAGGGACAGCTGTGGGTGTTCAGGGAAGGACTGGCTCAGAAGAGTTAGAGGGGCTGTGTCCAGAAGTGTGTGGGTGCCCACAAGTGTGGGGGGCTGGAGCCCTAAACTCTGCCTTTGAAGACAGTGGTCAGGCAGGAAGGGCGTCATGGGGTGTGGAAATAGCAGCAGCTGAGGTTTAAAGGGGGAAGCTGGCTTTGAGGAGTTCTGCCTGAGGGTTTACAGAGCCTCACCTGTCCCCAAGGTGGCAGAGCAGCTCATCAACCCCTTTGGAGAGGATGATGATGATTTTGAGACCAACTGGATTGTCGACAGGAATTTGCAGGTATGGGGAGAGGGAGAGAAACCATACCATGGACCTTCCCCAAAGTGGACCCAAAGAGAGGACCCCACTGTTCTGTAGGGAGGCCTCACAGTGAATGATCAACCCTTCCCCTCCTCCCTCCTGCAGCCAGTCATTCACTCACAGGATTCTCACCTCAATCTTTGAGGCTGCAGGCAGGCACCCATCTCCCCATTTCACAGGCAGGGAAACTGAGGTCCAGAGAGAGGGAGAGATTCCTCCAAGTCATCAGGCACATACAAGGTCCTGCCTGGGATGATCTTTCTGTGGGACTTCTTCTGTCCCTGGTGACCAGGTGTCCCTGTTGGCTGTGGATGAGATGCACCAGGACCTGCCTCGGATGGAGCCGGACATGTACTGGAATAAGCCCGAGCCACAGCCCCCCTACACAGCTGCTTCCGCCCAGTTCCGTCGAGCCTCCTTTATGGGCTCCACCTTCAACATCAGGTGTGGCCAGAGCCAGGGGGCTGGGTGGGAAGCCCCTCCTAGTGCAGGGGTCTGCCTAGGAACTTAGAATAGCACTAGTTAATGCATACAGGTTGCTTCAGTAAGTGTCAGGCACTGTACTATGCTCTTTATAAACATTAACTATTTTTTTCCTCCCAATAA
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Task1_train_15927
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A variant on Chromosome 11 in gene BEST1 (bestrophin 1) has been observed. Is this a neutral mutation, or does it result in a disease? If so, which one?
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Pathogenic; Vitelliform macular dystrophy 2
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TCGGGTGTCTGAAGGTGGGGCGAGGCCAGGAGCCCACCCTCCGAGAGTAGGAGTCTGAGGCAGGGCTAAGGACCCTTGAGGGATAATGGAAAGAAGGGTGACGGCTTGGGAACTGGTGAGGTACTAGGGTCTACTTCCCTCTGCCCTTGCCCCTCTTGATCTCCGGTTTCCACTCTGGAGGTATGGGACATTGGTCTCTGACACCCCCTCAGCCTGGCCTGACCTGGTCCTGGTTAATAAGACAGACCCAGGCTAGGCGTGGTGGCTGTCGCCTGTAATCCCAGTGCTTTAGGAGGCAAAGGTGGGAAGATCGCTTGAGCCCAGCTGTTTGAGACGCCCCTGAGCAACATAGCGAGACCCCCATCTCTACAAAAACATTAAAAATTAGCAGGGCATGGTGGCGTGTGCCTGCAGTCTGAGGCTGAGTATCGGGAGGCTGAGGCAGGAGGATCACTTGAGCCCAGCAGTTCCAGGCTGCAGTGCGCTAAGATCGCACCGCTGCACTCCAACCTCGGTGACAGAGCCAGACCCTTTCTCTGGAAATAAATAAATACCCTGCCCACATGCTCAGCCCAGAACAGCACCTAGTAGGTGCTCAGAAATTTTTTTGTTGTTGAAAGAAAGAGGATGGCAAAGGAGTGCTGAGGTTCCTATAGGTCAGCAGGTGCCGGCCATCCCTTCTGCAGGTTCTCCCACCCACCGCCTTCTTCACTCCACTCTGCAGGCTTTATGACTCCGGCAGAACACAAGCAGTTGGAGAAACTGAGCCTACCACACAACATGTTCTGGGTGCCCTGGGTGTGGTTTGCCAACCTGTCAATGAAGGCGTGGCTTGGAGGTCGAATCCGGGACCCTATCCTGCTCCAGAGCCTGCTGAACGTGAGCCCACTGTACAGACAGGGCTGCCGCAGAGTGGGAAGGGCTGTGGTCCACAGGAAACAAGGTTTCCTACAAAGAGAAGCCTTGGGCCCCTGAGGGTCTTCCGAGAGCCTGAGGTGGGGTTGCAGAATCTTTTCCAACAGCAATCCACAGCCCGAGGTGGTCCCTTCTCAGAGGCCCCTCCCTCTTCTCCAAGTCTGTGAGGTCCTGGTTCCCTTTTGATAGATGAGGAAGCTGAGACACAAAGAGGTTTAGTGAGCTTCCCATGGCCACACAGCCAGGAATGGACCATAGGTACCAGGCCCTGGTACCTGGAGAAGAGGTGGGGGCGAGCCCAGGGTGGGGGCAGGTGGTGTTCAGAACCCCATCCCCCTCTTCTGCCCCCCAGGAGATGAACACCTTGCGTACTCAGTGTGGACACCTGTATGCCTACGACTGGATTAGTATCCCACTGGTGTATACACAGGTGAGGACTAGGCTGGTGAGGCTGCCCTTTTGGGAAACTGAGGCTAGAAGGACCAAGGAAGCAGCTGGGGTGGGAAGGGCTCACCTAGAGGCTAAGTGGCTCCCCTGGGAGTTGGGTCCACACTTTGAAGTTGGGTCTGGACTTTGAAGTGCCAAGTTCTAAGAGTCCAGGCTCCTGCCTGGCCCAGTCCAGTAGAGGCAATGTGATTATCCCCATATTAAAGAGAGGTTGGCCGGGTGCAGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAAGCTGAGGCAGGTGGATCACCTGAGGTCAGGAGTTCGAGACCAGCCTGGCCAACATGGTGAAACCCCATCTCTACTGAAAATACAGAATTAGCTGTGTGGTGGTGCACGCCTGTAATCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATCGCTTGAACCCGGGAGGTGGAGGTTGCAGTGAGCTGAGATCATGCCACTGCACTCCAGCCTGGGCGACACAGCAAGACTCTGTCTCAAACAAACAAACAAACAAACAAACAAAGGGGTTAACAGAGCCCCTAAGTCACATAAGTGTGCAAGTCAGAACAAGGCCTTGGTCTCCTGTCTCAGACTCCCAGCCCCTGGAGCATCCTGATTTCAGGGTTCCCACCTAGCCCTTTGCTACCACATCCTCCTCCTCCTCCCAGGTGGTGACTGTGGCGGTGTACAGCTTCTTCCTGACTTGTCTAGTTGGGCGGCAGTTTCTGAACCCAGCCAAGGCCTACCCTGGCCATGAGCTGGACCTCGTTGTGCCCGTCTTCACGTTCCTGCAGTTCTTCTTCTATGTTGGCTGGCTGAAGGTGGGCCTCTCCAGGGCCCTGCTGGGCTGGAGGCATGGCCAGAGGGGTCATGGCCAGCAGCTGCCTGAGACGAGGATGCAGTGTCAGGAAAGGAAGGTCTCACGGGTAGAAAGCAGCCAGGCGTGGTGGCGCACACCTGTAATCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATCGCTTGAACCCGGGAGGCGGAGGTTGTGGTGAGTTGAGATCGTGCCACTGCACTCCAGCCTGGGCAAAAGAATGAAACTCTATCTCAAAAACAACAACAACAACAAAACAAAGCCCTAAGGTTCAGAAGCCCCTGCCCTTTAGAAGGCAGATCGGCACCACCTCTCCTTATTCAAGATGCCTGTTGGGCTGTCTTGTTCCTCACCTCAAGTGGCTTGTCCAGGTATTCCCTCCCACCACAGCCAATACTCCGAACAGATGTTCTGAATCACACAGTTTTCTCTCCACCTCTTTATCTTTCCTTCCTTCTGTTGCCCACCCACTCTCTCTCCCTTCCTACCTTCCTTTATTTTTTGGTAATGGGGGTGTAAGTCTCTGTCTCTGCCCTTCCTGTCACTGTGACACACACACACACACACACACACACACACACATACACACACACACACACGCATTCCTATTCCTCTAAATTCCCCCTGCCCCCCCAGTTATCTTTGGTTTCTGCAGATCAAAACAAATCACACTTTTATGCTTGAAATTCTCCGGGGTGCCCCAGTGGCCTGCAAGATGTCCCCTGGACCCCTAAGGCAGACGCGTGTCACCTCTTCGGGGCTTTGTTAGGGCATTTTAGAGGTTGCTATCCAGGAATCTGCCCACCTAGACTGCCCTTTAGTTCAGCCCAGCTTCAGTATATATCTCTGTTGCATGAATGAATAAAATTATGCAACTCCAGGTAAGATACATGAGGTGAGATAAAGGCAGTGACTCAGCCGAGTGATACACTCAGGGACAGCTGTGGGTGTTCAGGGAAGGACTGGCTCAGAAGAGTTAGAGGGGCTGTGTCCAGAAGTGTGTGGGTGCCCACAAGTGTGGGGGGCTGGAGCCCTAAACTCTGCCTTTGAAGACAGTGGTCAGGCAGGAAGGGCGTCATGGGGTGTGGAAATAGCAGCAGCTGAGGTTTAAAGGGGGAAGCTGGCTTTGAGGAGTTCTGCCTGAGGGTTTACAGAGCCTCACCTGTCCCCAAGGTGGCAGAGCAGCTCATCAACCCCTTTGGAGAGGATGATGATGATTTTGAGACCAACTGGATTGTCGACAGGAATTTGCAGGTATGGGGAGAGGGAGAGAAACCATACCATGGACCTTCCCCAAAGTGGACCCAAAGAGAGGACCCCACTGTTCTGTAGGGAGGCCTCACAGTGAATGATCAACCCTTCCCCTCCTCCCTCCTGCAGCCAGTCATTCACTCACAGGATTCTCACCTCAATCTTTGAGGCTGCAGGCAGGCACCCATCTCCCCATTTCACAGGCAGGGAAACTGAGGTCCAGAGAGAGGGAGAGATTCCTCCAAGTCATCAGGCACATACAAGGTCCTGCCTGGGATGATCTTTCTGTGGGACTTCTTCTGTCCCTGGTGACCAGGTGTCCCTGTTGGCTGTGGATGAGATGCACCAGGACCTGCCTCGGATGGAGCCGGACATGTACTGGAATAAGCCCGAGCCACAGCCCCCCTACACAGCTGCTTCCGCCCAGTTCCGTCGAGCCTCCTTTATGGGCTCCACCTTCAACATCAGGTGTGGCCAGAGCCAGGGGGCTGGGTGGGAAGCCCCTCCTAGTGCAGGGGTCTGCCTAGGAACTTAGAATAGCACTAGTTAATGCATACAGGTTGCTTCAGTAAGTGTCAGGCACTGTACTATGCTCTTTATAAACATTAACTATTTTTTTCCTCCCAATAATTCTGGTTTG
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TCGGGTGTCTGAAGGTGGGGCGAGGCCAGGAGCCCACCCTCCGAGAGTAGGAGTCTGAGGCAGGGCTAAGGACCCTTGAGGGATAATGGAAAGAAGGGTGACGGCTTGGGAACTGGTGAGGTACTAGGGTCTACTTCCCTCTGCCCTTGCCCCTCTTGATCTCCGGTTTCCACTCTGGAGGTATGGGACATTGGTCTCTGACACCCCCTCAGCCTGGCCTGACCTGGTCCTGGTTAATAAGACAGACCCAGGCTAGGCGTGGTGGCTGTCGCCTGTAATCCCAGTGCTTTAGGAGGCAAAGGTGGGAAGATCGCTTGAGCCCAGCTGTTTGAGACGCCCCTGAGCAACATAGCGAGACCCCCATCTCTACAAAAACATTAAAAATTAGCAGGGCATGGTGGCGTGTGCCTGCAGTCTGAGGCTGAGTATCGGGAGGCTGAGGCAGGAGGATCACTTGAGCCCAGCAGTTCCAGGCTGCAGTGCGCTAAGATCGCACCGCTGCACTCCAACCTCGGTGACAGAGCCAGACCCTTTCTCTGGAAATAAATAAATACCCTGCCCACATGCTCAGCCCAGAACAGCACCTAGTAGGTGCTCAGAAATTTTTTTGTTGTTGAAAGAAAGAGGATGGCAAAGGAGTGCTGAGGTTCCTATAGGTCAGCAGGTGCCGGCCATCCCTTCTGCAGGTTCTCCCACCCACCGCCTTCTTCACTCCACTCTGCAGGCTTTATGACTCCGGCAGAACACAAGCAGTTGGAGAAACTGAGCCTACCACACAACATGTTCTGGGTGCCCTGGGTGTGGTTTGCCAACCTGTCAATGAAGGCGTGGCTTGGAGGTCGAATCCGGGACCCTATCCTGCTCCAGAGCCTGCTGAACGTGAGCCCACTGTACAGACAGGGCTGCCGCAGAGTGGGAAGGGCTGTGGTCCACAGGAAACAAGGTTTCCTACAAAGAGAAGCCTTGGGCCCCTGAGGGTCTTCCGAGAGCCTGAGGTGGGGTTGCAGAATCTTTTCCAACAGCAATCCACAGCCCGAGGTGGTCCCTTCTCAGAGGCCCCTCCCTCTTCTCCAAGTCTGTGAGGTCCTGGTTCCCTTTTGATAGATGAGGAAGCTGAGACACAAAGAGGTTTAGTGAGCTTCCCATGGCCACACAGCCAGGAATGGACCATAGGTACCAGGCCCTGGTACCTGGAGAAGAGGTGGGGGCGAGCCCAGGGTGGGGGCAGGTGGTGTTCAGAACCCCATCCCCCTCTTCTGCCCCCCAGGAGATGAACACCTTGCGTACTCAGTGTGGACACCTGTATGCCTACGACTGGATTAGTATCCCACTGGTGTATACACAGGTGAGGACTAGGCTGGTGAGGCTGCCCTTTTGGGAAACTGAGGCTAGAAGGACCAAGGAAGCAGCTGGGGTGGGAAGGGCTCACCTAGAGGCTAAGTGGCTCCCCTGGGAGTTGGGTCCACACTTTGAAGTTGGGTCTGGACTTTGAAGTGCCAAGTTCTAAGAGTCCAGGCTCCTGCCTGGCCCAGTCCAGTAGAGGCAATGTGATTATCCCCATATTAAAGAGAGGTTGGCCGGGTGCAGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAAGCTGAGGCAGGTGGATCACCTGAGGTCAGGAGTTCGAGACCAGCCTGGCCAACATGGTGAAACCCCATCTCTACTGAAAATACAGAATTAGCTGTGTGGTGGTGCACGCCTGTAATCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATCGCTTGAACCCGGGAGGTGGAGGTTGCAGTGAGCTGAGATCATGCCACTGCACTCCAGCCTGGGCGACACAGCAAGACTCTGTCTCAAACAAACAAACAAACAAACAAACAAAGGGGTTAACAGAGCCCCTAAGTCACATAAGTGTGCAAGTCAGAACAAGGCCTTGGTCTCCTGTCTCAGACTCCCAGCCCCTGGAGCATCCTGATTTCAGGGTTCCCACCTAGCCCTTTGCTACCACATCCTCCTCCTCCTCCCAGGTGGTGACTGTGGCGGTGTACAACTTCTTCCTGACTTGTCTAGTTGGGCGGCAGTTTCTGAACCCAGCCAAGGCCTACCCTGGCCATGAGCTGGACCTCGTTGTGCCCGTCTTCACGTTCCTGCAGTTCTTCTTCTATGTTGGCTGGCTGAAGGTGGGCCTCTCCAGGGCCCTGCTGGGCTGGAGGCATGGCCAGAGGGGTCATGGCCAGCAGCTGCCTGAGACGAGGATGCAGTGTCAGGAAAGGAAGGTCTCACGGGTAGAAAGCAGCCAGGCGTGGTGGCGCACACCTGTAATCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATCGCTTGAACCCGGGAGGCGGAGGTTGTGGTGAGTTGAGATCGTGCCACTGCACTCCAGCCTGGGCAAAAGAATGAAACTCTATCTCAAAAACAACAACAACAACAAAACAAAGCCCTAAGGTTCAGAAGCCCCTGCCCTTTAGAAGGCAGATCGGCACCACCTCTCCTTATTCAAGATGCCTGTTGGGCTGTCTTGTTCCTCACCTCAAGTGGCTTGTCCAGGTATTCCCTCCCACCACAGCCAATACTCCGAACAGATGTTCTGAATCACACAGTTTTCTCTCCACCTCTTTATCTTTCCTTCCTTCTGTTGCCCACCCACTCTCTCTCCCTTCCTACCTTCCTTTATTTTTTGGTAATGGGGGTGTAAGTCTCTGTCTCTGCCCTTCCTGTCACTGTGACACACACACACACACACACACACACACACACATACACACACACACACACGCATTCCTATTCCTCTAAATTCCCCCTGCCCCCCCAGTTATCTTTGGTTTCTGCAGATCAAAACAAATCACACTTTTATGCTTGAAATTCTCCGGGGTGCCCCAGTGGCCTGCAAGATGTCCCCTGGACCCCTAAGGCAGACGCGTGTCACCTCTTCGGGGCTTTGTTAGGGCATTTTAGAGGTTGCTATCCAGGAATCTGCCCACCTAGACTGCCCTTTAGTTCAGCCCAGCTTCAGTATATATCTCTGTTGCATGAATGAATAAAATTATGCAACTCCAGGTAAGATACATGAGGTGAGATAAAGGCAGTGACTCAGCCGAGTGATACACTCAGGGACAGCTGTGGGTGTTCAGGGAAGGACTGGCTCAGAAGAGTTAGAGGGGCTGTGTCCAGAAGTGTGTGGGTGCCCACAAGTGTGGGGGGCTGGAGCCCTAAACTCTGCCTTTGAAGACAGTGGTCAGGCAGGAAGGGCGTCATGGGGTGTGGAAATAGCAGCAGCTGAGGTTTAAAGGGGGAAGCTGGCTTTGAGGAGTTCTGCCTGAGGGTTTACAGAGCCTCACCTGTCCCCAAGGTGGCAGAGCAGCTCATCAACCCCTTTGGAGAGGATGATGATGATTTTGAGACCAACTGGATTGTCGACAGGAATTTGCAGGTATGGGGAGAGGGAGAGAAACCATACCATGGACCTTCCCCAAAGTGGACCCAAAGAGAGGACCCCACTGTTCTGTAGGGAGGCCTCACAGTGAATGATCAACCCTTCCCCTCCTCCCTCCTGCAGCCAGTCATTCACTCACAGGATTCTCACCTCAATCTTTGAGGCTGCAGGCAGGCACCCATCTCCCCATTTCACAGGCAGGGAAACTGAGGTCCAGAGAGAGGGAGAGATTCCTCCAAGTCATCAGGCACATACAAGGTCCTGCCTGGGATGATCTTTCTGTGGGACTTCTTCTGTCCCTGGTGACCAGGTGTCCCTGTTGGCTGTGGATGAGATGCACCAGGACCTGCCTCGGATGGAGCCGGACATGTACTGGAATAAGCCCGAGCCACAGCCCCCCTACACAGCTGCTTCCGCCCAGTTCCGTCGAGCCTCCTTTATGGGCTCCACCTTCAACATCAGGTGTGGCCAGAGCCAGGGGGCTGGGTGGGAAGCCCCTCCTAGTGCAGGGGTCTGCCTAGGAACTTAGAATAGCACTAGTTAATGCATACAGGTTGCTTCAGTAAGTGTCAGGCACTGTACTATGCTCTTTATAAACATTAACTATTTTTTTCCTCCCAATAATTCTGGTTTG
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Task1_train_15928
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Mutation context: Chromosome 11, Gene BEST1 (bestrophin 1). Determine if this variant is likely to be benign or pathogenic. Mention the disease if applicable.
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Pathogenic; Autosomal recessive bestrophinopathy
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CAGGAGCCCACCCTCCGAGAGTAGGAGTCTGAGGCAGGGCTAAGGACCCTTGAGGGATAATGGAAAGAAGGGTGACGGCTTGGGAACTGGTGAGGTACTAGGGTCTACTTCCCTCTGCCCTTGCCCCTCTTGATCTCCGGTTTCCACTCTGGAGGTATGGGACATTGGTCTCTGACACCCCCTCAGCCTGGCCTGACCTGGTCCTGGTTAATAAGACAGACCCAGGCTAGGCGTGGTGGCTGTCGCCTGTAATCCCAGTGCTTTAGGAGGCAAAGGTGGGAAGATCGCTTGAGCCCAGCTGTTTGAGACGCCCCTGAGCAACATAGCGAGACCCCCATCTCTACAAAAACATTAAAAATTAGCAGGGCATGGTGGCGTGTGCCTGCAGTCTGAGGCTGAGTATCGGGAGGCTGAGGCAGGAGGATCACTTGAGCCCAGCAGTTCCAGGCTGCAGTGCGCTAAGATCGCACCGCTGCACTCCAACCTCGGTGACAGAGCCAGACCCTTTCTCTGGAAATAAATAAATACCCTGCCCACATGCTCAGCCCAGAACAGCACCTAGTAGGTGCTCAGAAATTTTTTTGTTGTTGAAAGAAAGAGGATGGCAAAGGAGTGCTGAGGTTCCTATAGGTCAGCAGGTGCCGGCCATCCCTTCTGCAGGTTCTCCCACCCACCGCCTTCTTCACTCCACTCTGCAGGCTTTATGACTCCGGCAGAACACAAGCAGTTGGAGAAACTGAGCCTACCACACAACATGTTCTGGGTGCCCTGGGTGTGGTTTGCCAACCTGTCAATGAAGGCGTGGCTTGGAGGTCGAATCCGGGACCCTATCCTGCTCCAGAGCCTGCTGAACGTGAGCCCACTGTACAGACAGGGCTGCCGCAGAGTGGGAAGGGCTGTGGTCCACAGGAAACAAGGTTTCCTACAAAGAGAAGCCTTGGGCCCCTGAGGGTCTTCCGAGAGCCTGAGGTGGGGTTGCAGAATCTTTTCCAACAGCAATCCACAGCCCGAGGTGGTCCCTTCTCAGAGGCCCCTCCCTCTTCTCCAAGTCTGTGAGGTCCTGGTTCCCTTTTGATAGATGAGGAAGCTGAGACACAAAGAGGTTTAGTGAGCTTCCCATGGCCACACAGCCAGGAATGGACCATAGGTACCAGGCCCTGGTACCTGGAGAAGAGGTGGGGGCGAGCCCAGGGTGGGGGCAGGTGGTGTTCAGAACCCCATCCCCCTCTTCTGCCCCCCAGGAGATGAACACCTTGCGTACTCAGTGTGGACACCTGTATGCCTACGACTGGATTAGTATCCCACTGGTGTATACACAGGTGAGGACTAGGCTGGTGAGGCTGCCCTTTTGGGAAACTGAGGCTAGAAGGACCAAGGAAGCAGCTGGGGTGGGAAGGGCTCACCTAGAGGCTAAGTGGCTCCCCTGGGAGTTGGGTCCACACTTTGAAGTTGGGTCTGGACTTTGAAGTGCCAAGTTCTAAGAGTCCAGGCTCCTGCCTGGCCCAGTCCAGTAGAGGCAATGTGATTATCCCCATATTAAAGAGAGGTTGGCCGGGTGCAGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAAGCTGAGGCAGGTGGATCACCTGAGGTCAGGAGTTCGAGACCAGCCTGGCCAACATGGTGAAACCCCATCTCTACTGAAAATACAGAATTAGCTGTGTGGTGGTGCACGCCTGTAATCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATCGCTTGAACCCGGGAGGTGGAGGTTGCAGTGAGCTGAGATCATGCCACTGCACTCCAGCCTGGGCGACACAGCAAGACTCTGTCTCAAACAAACAAACAAACAAACAAACAAAGGGGTTAACAGAGCCCCTAAGTCACATAAGTGTGCAAGTCAGAACAAGGCCTTGGTCTCCTGTCTCAGACTCCCAGCCCCTGGAGCATCCTGATTTCAGGGTTCCCACCTAGCCCTTTGCTACCACATCCTCCTCCTCCTCCCAGGTGGTGACTGTGGCGGTGTACAGCTTCTTCCTGACTTGTCTAGTTGGGCGGCAGTTTCTGAACCCAGCCAAGGCCTACCCTGGCCATGAGCTGGACCTCGTTGTGCCCGTCTTCACGTTCCTGCAGTTCTTCTTCTATGTTGGCTGGCTGAAGGTGGGCCTCTCCAGGGCCCTGCTGGGCTGGAGGCATGGCCAGAGGGGTCATGGCCAGCAGCTGCCTGAGACGAGGATGCAGTGTCAGGAAAGGAAGGTCTCACGGGTAGAAAGCAGCCAGGCGTGGTGGCGCACACCTGTAATCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATCGCTTGAACCCGGGAGGCGGAGGTTGTGGTGAGTTGAGATCGTGCCACTGCACTCCAGCCTGGGCAAAAGAATGAAACTCTATCTCAAAAACAACAACAACAACAAAACAAAGCCCTAAGGTTCAGAAGCCCCTGCCCTTTAGAAGGCAGATCGGCACCACCTCTCCTTATTCAAGATGCCTGTTGGGCTGTCTTGTTCCTCACCTCAAGTGGCTTGTCCAGGTATTCCCTCCCACCACAGCCAATACTCCGAACAGATGTTCTGAATCACACAGTTTTCTCTCCACCTCTTTATCTTTCCTTCCTTCTGTTGCCCACCCACTCTCTCTCCCTTCCTACCTTCCTTTATTTTTTGGTAATGGGGGTGTAAGTCTCTGTCTCTGCCCTTCCTGTCACTGTGACACACACACACACACACACACACACACACACATACACACACACACACACGCATTCCTATTCCTCTAAATTCCCCCTGCCCCCCCAGTTATCTTTGGTTTCTGCAGATCAAAACAAATCACACTTTTATGCTTGAAATTCTCCGGGGTGCCCCAGTGGCCTGCAAGATGTCCCCTGGACCCCTAAGGCAGACGCGTGTCACCTCTTCGGGGCTTTGTTAGGGCATTTTAGAGGTTGCTATCCAGGAATCTGCCCACCTAGACTGCCCTTTAGTTCAGCCCAGCTTCAGTATATATCTCTGTTGCATGAATGAATAAAATTATGCAACTCCAGGTAAGATACATGAGGTGAGATAAAGGCAGTGACTCAGCCGAGTGATACACTCAGGGACAGCTGTGGGTGTTCAGGGAAGGACTGGCTCAGAAGAGTTAGAGGGGCTGTGTCCAGAAGTGTGTGGGTGCCCACAAGTGTGGGGGGCTGGAGCCCTAAACTCTGCCTTTGAAGACAGTGGTCAGGCAGGAAGGGCGTCATGGGGTGTGGAAATAGCAGCAGCTGAGGTTTAAAGGGGGAAGCTGGCTTTGAGGAGTTCTGCCTGAGGGTTTACAGAGCCTCACCTGTCCCCAAGGTGGCAGAGCAGCTCATCAACCCCTTTGGAGAGGATGATGATGATTTTGAGACCAACTGGATTGTCGACAGGAATTTGCAGGTATGGGGAGAGGGAGAGAAACCATACCATGGACCTTCCCCAAAGTGGACCCAAAGAGAGGACCCCACTGTTCTGTAGGGAGGCCTCACAGTGAATGATCAACCCTTCCCCTCCTCCCTCCTGCAGCCAGTCATTCACTCACAGGATTCTCACCTCAATCTTTGAGGCTGCAGGCAGGCACCCATCTCCCCATTTCACAGGCAGGGAAACTGAGGTCCAGAGAGAGGGAGAGATTCCTCCAAGTCATCAGGCACATACAAGGTCCTGCCTGGGATGATCTTTCTGTGGGACTTCTTCTGTCCCTGGTGACCAGGTGTCCCTGTTGGCTGTGGATGAGATGCACCAGGACCTGCCTCGGATGGAGCCGGACATGTACTGGAATAAGCCCGAGCCACAGCCCCCCTACACAGCTGCTTCCGCCCAGTTCCGTCGAGCCTCCTTTATGGGCTCCACCTTCAACATCAGGTGTGGCCAGAGCCAGGGGGCTGGGTGGGAAGCCCCTCCTAGTGCAGGGGTCTGCCTAGGAACTTAGAATAGCACTAGTTAATGCATACAGGTTGCTTCAGTAAGTGTCAGGCACTGTACTATGCTCTTTATAAACATTAACTATTTTTTTCCTCCCAATAATTCTGGTTTGTTATCCCAAGTTTTCAGATAATTAAA
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CAGGAGCCCACCCTCCGAGAGTAGGAGTCTGAGGCAGGGCTAAGGACCCTTGAGGGATAATGGAAAGAAGGGTGACGGCTTGGGAACTGGTGAGGTACTAGGGTCTACTTCCCTCTGCCCTTGCCCCTCTTGATCTCCGGTTTCCACTCTGGAGGTATGGGACATTGGTCTCTGACACCCCCTCAGCCTGGCCTGACCTGGTCCTGGTTAATAAGACAGACCCAGGCTAGGCGTGGTGGCTGTCGCCTGTAATCCCAGTGCTTTAGGAGGCAAAGGTGGGAAGATCGCTTGAGCCCAGCTGTTTGAGACGCCCCTGAGCAACATAGCGAGACCCCCATCTCTACAAAAACATTAAAAATTAGCAGGGCATGGTGGCGTGTGCCTGCAGTCTGAGGCTGAGTATCGGGAGGCTGAGGCAGGAGGATCACTTGAGCCCAGCAGTTCCAGGCTGCAGTGCGCTAAGATCGCACCGCTGCACTCCAACCTCGGTGACAGAGCCAGACCCTTTCTCTGGAAATAAATAAATACCCTGCCCACATGCTCAGCCCAGAACAGCACCTAGTAGGTGCTCAGAAATTTTTTTGTTGTTGAAAGAAAGAGGATGGCAAAGGAGTGCTGAGGTTCCTATAGGTCAGCAGGTGCCGGCCATCCCTTCTGCAGGTTCTCCCACCCACCGCCTTCTTCACTCCACTCTGCAGGCTTTATGACTCCGGCAGAACACAAGCAGTTGGAGAAACTGAGCCTACCACACAACATGTTCTGGGTGCCCTGGGTGTGGTTTGCCAACCTGTCAATGAAGGCGTGGCTTGGAGGTCGAATCCGGGACCCTATCCTGCTCCAGAGCCTGCTGAACGTGAGCCCACTGTACAGACAGGGCTGCCGCAGAGTGGGAAGGGCTGTGGTCCACAGGAAACAAGGTTTCCTACAAAGAGAAGCCTTGGGCCCCTGAGGGTCTTCCGAGAGCCTGAGGTGGGGTTGCAGAATCTTTTCCAACAGCAATCCACAGCCCGAGGTGGTCCCTTCTCAGAGGCCCCTCCCTCTTCTCCAAGTCTGTGAGGTCCTGGTTCCCTTTTGATAGATGAGGAAGCTGAGACACAAAGAGGTTTAGTGAGCTTCCCATGGCCACACAGCCAGGAATGGACCATAGGTACCAGGCCCTGGTACCTGGAGAAGAGGTGGGGGCGAGCCCAGGGTGGGGGCAGGTGGTGTTCAGAACCCCATCCCCCTCTTCTGCCCCCCAGGAGATGAACACCTTGCGTACTCAGTGTGGACACCTGTATGCCTACGACTGGATTAGTATCCCACTGGTGTATACACAGGTGAGGACTAGGCTGGTGAGGCTGCCCTTTTGGGAAACTGAGGCTAGAAGGACCAAGGAAGCAGCTGGGGTGGGAAGGGCTCACCTAGAGGCTAAGTGGCTCCCCTGGGAGTTGGGTCCACACTTTGAAGTTGGGTCTGGACTTTGAAGTGCCAAGTTCTAAGAGTCCAGGCTCCTGCCTGGCCCAGTCCAGTAGAGGCAATGTGATTATCCCCATATTAAAGAGAGGTTGGCCGGGTGCAGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAAGCTGAGGCAGGTGGATCACCTGAGGTCAGGAGTTCGAGACCAGCCTGGCCAACATGGTGAAACCCCATCTCTACTGAAAATACAGAATTAGCTGTGTGGTGGTGCACGCCTGTAATCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATCGCTTGAACCCGGGAGGTGGAGGTTGCAGTGAGCTGAGATCATGCCACTGCACTCCAGCCTGGGCGACACAGCAAGACTCTGTCTCAAACAAACAAACAAACAAACAAACAAAGGGGTTAACAGAGCCCCTAAGTCACATAAGTGTGCAAGTCAGAACAAGGCCTTGGTCTCCTGTCTCAGACTCCCAGCCCCTGGAGCATCCTGATTTCAGGGTTCCCACCTAGCCCTTTGCTACCACATCCTCCTCCTCCTCCCAGGTGGTGACTGTGGCGGTGTACAGCTTCTTCCTGACTTGTCTAGTTGGGTGGCAGTTTCTGAACCCAGCCAAGGCCTACCCTGGCCATGAGCTGGACCTCGTTGTGCCCGTCTTCACGTTCCTGCAGTTCTTCTTCTATGTTGGCTGGCTGAAGGTGGGCCTCTCCAGGGCCCTGCTGGGCTGGAGGCATGGCCAGAGGGGTCATGGCCAGCAGCTGCCTGAGACGAGGATGCAGTGTCAGGAAAGGAAGGTCTCACGGGTAGAAAGCAGCCAGGCGTGGTGGCGCACACCTGTAATCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATCGCTTGAACCCGGGAGGCGGAGGTTGTGGTGAGTTGAGATCGTGCCACTGCACTCCAGCCTGGGCAAAAGAATGAAACTCTATCTCAAAAACAACAACAACAACAAAACAAAGCCCTAAGGTTCAGAAGCCCCTGCCCTTTAGAAGGCAGATCGGCACCACCTCTCCTTATTCAAGATGCCTGTTGGGCTGTCTTGTTCCTCACCTCAAGTGGCTTGTCCAGGTATTCCCTCCCACCACAGCCAATACTCCGAACAGATGTTCTGAATCACACAGTTTTCTCTCCACCTCTTTATCTTTCCTTCCTTCTGTTGCCCACCCACTCTCTCTCCCTTCCTACCTTCCTTTATTTTTTGGTAATGGGGGTGTAAGTCTCTGTCTCTGCCCTTCCTGTCACTGTGACACACACACACACACACACACACACACACACATACACACACACACACACGCATTCCTATTCCTCTAAATTCCCCCTGCCCCCCCAGTTATCTTTGGTTTCTGCAGATCAAAACAAATCACACTTTTATGCTTGAAATTCTCCGGGGTGCCCCAGTGGCCTGCAAGATGTCCCCTGGACCCCTAAGGCAGACGCGTGTCACCTCTTCGGGGCTTTGTTAGGGCATTTTAGAGGTTGCTATCCAGGAATCTGCCCACCTAGACTGCCCTTTAGTTCAGCCCAGCTTCAGTATATATCTCTGTTGCATGAATGAATAAAATTATGCAACTCCAGGTAAGATACATGAGGTGAGATAAAGGCAGTGACTCAGCCGAGTGATACACTCAGGGACAGCTGTGGGTGTTCAGGGAAGGACTGGCTCAGAAGAGTTAGAGGGGCTGTGTCCAGAAGTGTGTGGGTGCCCACAAGTGTGGGGGGCTGGAGCCCTAAACTCTGCCTTTGAAGACAGTGGTCAGGCAGGAAGGGCGTCATGGGGTGTGGAAATAGCAGCAGCTGAGGTTTAAAGGGGGAAGCTGGCTTTGAGGAGTTCTGCCTGAGGGTTTACAGAGCCTCACCTGTCCCCAAGGTGGCAGAGCAGCTCATCAACCCCTTTGGAGAGGATGATGATGATTTTGAGACCAACTGGATTGTCGACAGGAATTTGCAGGTATGGGGAGAGGGAGAGAAACCATACCATGGACCTTCCCCAAAGTGGACCCAAAGAGAGGACCCCACTGTTCTGTAGGGAGGCCTCACAGTGAATGATCAACCCTTCCCCTCCTCCCTCCTGCAGCCAGTCATTCACTCACAGGATTCTCACCTCAATCTTTGAGGCTGCAGGCAGGCACCCATCTCCCCATTTCACAGGCAGGGAAACTGAGGTCCAGAGAGAGGGAGAGATTCCTCCAAGTCATCAGGCACATACAAGGTCCTGCCTGGGATGATCTTTCTGTGGGACTTCTTCTGTCCCTGGTGACCAGGTGTCCCTGTTGGCTGTGGATGAGATGCACCAGGACCTGCCTCGGATGGAGCCGGACATGTACTGGAATAAGCCCGAGCCACAGCCCCCCTACACAGCTGCTTCCGCCCAGTTCCGTCGAGCCTCCTTTATGGGCTCCACCTTCAACATCAGGTGTGGCCAGAGCCAGGGGGCTGGGTGGGAAGCCCCTCCTAGTGCAGGGGTCTGCCTAGGAACTTAGAATAGCACTAGTTAATGCATACAGGTTGCTTCAGTAAGTGTCAGGCACTGTACTATGCTCTTTATAAACATTAACTATTTTTTTCCTCCCAATAATTCTGGTTTGTTATCCCAAGTTTTCAGATAATTAAA
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Task1_train_15929
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The gene BEST1 (bestrophin 1) on Chromosome 11 carries this variant. Does this mutation lead to a specific disease, or is it non-pathogenic?
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Pathogenic; Retinal dystrophy
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CAGGAGCCCACCCTCCGAGAGTAGGAGTCTGAGGCAGGGCTAAGGACCCTTGAGGGATAATGGAAAGAAGGGTGACGGCTTGGGAACTGGTGAGGTACTAGGGTCTACTTCCCTCTGCCCTTGCCCCTCTTGATCTCCGGTTTCCACTCTGGAGGTATGGGACATTGGTCTCTGACACCCCCTCAGCCTGGCCTGACCTGGTCCTGGTTAATAAGACAGACCCAGGCTAGGCGTGGTGGCTGTCGCCTGTAATCCCAGTGCTTTAGGAGGCAAAGGTGGGAAGATCGCTTGAGCCCAGCTGTTTGAGACGCCCCTGAGCAACATAGCGAGACCCCCATCTCTACAAAAACATTAAAAATTAGCAGGGCATGGTGGCGTGTGCCTGCAGTCTGAGGCTGAGTATCGGGAGGCTGAGGCAGGAGGATCACTTGAGCCCAGCAGTTCCAGGCTGCAGTGCGCTAAGATCGCACCGCTGCACTCCAACCTCGGTGACAGAGCCAGACCCTTTCTCTGGAAATAAATAAATACCCTGCCCACATGCTCAGCCCAGAACAGCACCTAGTAGGTGCTCAGAAATTTTTTTGTTGTTGAAAGAAAGAGGATGGCAAAGGAGTGCTGAGGTTCCTATAGGTCAGCAGGTGCCGGCCATCCCTTCTGCAGGTTCTCCCACCCACCGCCTTCTTCACTCCACTCTGCAGGCTTTATGACTCCGGCAGAACACAAGCAGTTGGAGAAACTGAGCCTACCACACAACATGTTCTGGGTGCCCTGGGTGTGGTTTGCCAACCTGTCAATGAAGGCGTGGCTTGGAGGTCGAATCCGGGACCCTATCCTGCTCCAGAGCCTGCTGAACGTGAGCCCACTGTACAGACAGGGCTGCCGCAGAGTGGGAAGGGCTGTGGTCCACAGGAAACAAGGTTTCCTACAAAGAGAAGCCTTGGGCCCCTGAGGGTCTTCCGAGAGCCTGAGGTGGGGTTGCAGAATCTTTTCCAACAGCAATCCACAGCCCGAGGTGGTCCCTTCTCAGAGGCCCCTCCCTCTTCTCCAAGTCTGTGAGGTCCTGGTTCCCTTTTGATAGATGAGGAAGCTGAGACACAAAGAGGTTTAGTGAGCTTCCCATGGCCACACAGCCAGGAATGGACCATAGGTACCAGGCCCTGGTACCTGGAGAAGAGGTGGGGGCGAGCCCAGGGTGGGGGCAGGTGGTGTTCAGAACCCCATCCCCCTCTTCTGCCCCCCAGGAGATGAACACCTTGCGTACTCAGTGTGGACACCTGTATGCCTACGACTGGATTAGTATCCCACTGGTGTATACACAGGTGAGGACTAGGCTGGTGAGGCTGCCCTTTTGGGAAACTGAGGCTAGAAGGACCAAGGAAGCAGCTGGGGTGGGAAGGGCTCACCTAGAGGCTAAGTGGCTCCCCTGGGAGTTGGGTCCACACTTTGAAGTTGGGTCTGGACTTTGAAGTGCCAAGTTCTAAGAGTCCAGGCTCCTGCCTGGCCCAGTCCAGTAGAGGCAATGTGATTATCCCCATATTAAAGAGAGGTTGGCCGGGTGCAGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAAGCTGAGGCAGGTGGATCACCTGAGGTCAGGAGTTCGAGACCAGCCTGGCCAACATGGTGAAACCCCATCTCTACTGAAAATACAGAATTAGCTGTGTGGTGGTGCACGCCTGTAATCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATCGCTTGAACCCGGGAGGTGGAGGTTGCAGTGAGCTGAGATCATGCCACTGCACTCCAGCCTGGGCGACACAGCAAGACTCTGTCTCAAACAAACAAACAAACAAACAAACAAAGGGGTTAACAGAGCCCCTAAGTCACATAAGTGTGCAAGTCAGAACAAGGCCTTGGTCTCCTGTCTCAGACTCCCAGCCCCTGGAGCATCCTGATTTCAGGGTTCCCACCTAGCCCTTTGCTACCACATCCTCCTCCTCCTCCCAGGTGGTGACTGTGGCGGTGTACAGCTTCTTCCTGACTTGTCTAGTTGGGCGGCAGTTTCTGAACCCAGCCAAGGCCTACCCTGGCCATGAGCTGGACCTCGTTGTGCCCGTCTTCACGTTCCTGCAGTTCTTCTTCTATGTTGGCTGGCTGAAGGTGGGCCTCTCCAGGGCCCTGCTGGGCTGGAGGCATGGCCAGAGGGGTCATGGCCAGCAGCTGCCTGAGACGAGGATGCAGTGTCAGGAAAGGAAGGTCTCACGGGTAGAAAGCAGCCAGGCGTGGTGGCGCACACCTGTAATCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATCGCTTGAACCCGGGAGGCGGAGGTTGTGGTGAGTTGAGATCGTGCCACTGCACTCCAGCCTGGGCAAAAGAATGAAACTCTATCTCAAAAACAACAACAACAACAAAACAAAGCCCTAAGGTTCAGAAGCCCCTGCCCTTTAGAAGGCAGATCGGCACCACCTCTCCTTATTCAAGATGCCTGTTGGGCTGTCTTGTTCCTCACCTCAAGTGGCTTGTCCAGGTATTCCCTCCCACCACAGCCAATACTCCGAACAGATGTTCTGAATCACACAGTTTTCTCTCCACCTCTTTATCTTTCCTTCCTTCTGTTGCCCACCCACTCTCTCTCCCTTCCTACCTTCCTTTATTTTTTGGTAATGGGGGTGTAAGTCTCTGTCTCTGCCCTTCCTGTCACTGTGACACACACACACACACACACACACACACACACATACACACACACACACACGCATTCCTATTCCTCTAAATTCCCCCTGCCCCCCCAGTTATCTTTGGTTTCTGCAGATCAAAACAAATCACACTTTTATGCTTGAAATTCTCCGGGGTGCCCCAGTGGCCTGCAAGATGTCCCCTGGACCCCTAAGGCAGACGCGTGTCACCTCTTCGGGGCTTTGTTAGGGCATTTTAGAGGTTGCTATCCAGGAATCTGCCCACCTAGACTGCCCTTTAGTTCAGCCCAGCTTCAGTATATATCTCTGTTGCATGAATGAATAAAATTATGCAACTCCAGGTAAGATACATGAGGTGAGATAAAGGCAGTGACTCAGCCGAGTGATACACTCAGGGACAGCTGTGGGTGTTCAGGGAAGGACTGGCTCAGAAGAGTTAGAGGGGCTGTGTCCAGAAGTGTGTGGGTGCCCACAAGTGTGGGGGGCTGGAGCCCTAAACTCTGCCTTTGAAGACAGTGGTCAGGCAGGAAGGGCGTCATGGGGTGTGGAAATAGCAGCAGCTGAGGTTTAAAGGGGGAAGCTGGCTTTGAGGAGTTCTGCCTGAGGGTTTACAGAGCCTCACCTGTCCCCAAGGTGGCAGAGCAGCTCATCAACCCCTTTGGAGAGGATGATGATGATTTTGAGACCAACTGGATTGTCGACAGGAATTTGCAGGTATGGGGAGAGGGAGAGAAACCATACCATGGACCTTCCCCAAAGTGGACCCAAAGAGAGGACCCCACTGTTCTGTAGGGAGGCCTCACAGTGAATGATCAACCCTTCCCCTCCTCCCTCCTGCAGCCAGTCATTCACTCACAGGATTCTCACCTCAATCTTTGAGGCTGCAGGCAGGCACCCATCTCCCCATTTCACAGGCAGGGAAACTGAGGTCCAGAGAGAGGGAGAGATTCCTCCAAGTCATCAGGCACATACAAGGTCCTGCCTGGGATGATCTTTCTGTGGGACTTCTTCTGTCCCTGGTGACCAGGTGTCCCTGTTGGCTGTGGATGAGATGCACCAGGACCTGCCTCGGATGGAGCCGGACATGTACTGGAATAAGCCCGAGCCACAGCCCCCCTACACAGCTGCTTCCGCCCAGTTCCGTCGAGCCTCCTTTATGGGCTCCACCTTCAACATCAGGTGTGGCCAGAGCCAGGGGGCTGGGTGGGAAGCCCCTCCTAGTGCAGGGGTCTGCCTAGGAACTTAGAATAGCACTAGTTAATGCATACAGGTTGCTTCAGTAAGTGTCAGGCACTGTACTATGCTCTTTATAAACATTAACTATTTTTTTCCTCCCAATAATTCTGGTTTGTTATCCCAAGTTTTCAGATAATTAAA
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CAGGAGCCCACCCTCCGAGAGTAGGAGTCTGAGGCAGGGCTAAGGACCCTTGAGGGATAATGGAAAGAAGGGTGACGGCTTGGGAACTGGTGAGGTACTAGGGTCTACTTCCCTCTGCCCTTGCCCCTCTTGATCTCCGGTTTCCACTCTGGAGGTATGGGACATTGGTCTCTGACACCCCCTCAGCCTGGCCTGACCTGGTCCTGGTTAATAAGACAGACCCAGGCTAGGCGTGGTGGCTGTCGCCTGTAATCCCAGTGCTTTAGGAGGCAAAGGTGGGAAGATCGCTTGAGCCCAGCTGTTTGAGACGCCCCTGAGCAACATAGCGAGACCCCCATCTCTACAAAAACATTAAAAATTAGCAGGGCATGGTGGCGTGTGCCTGCAGTCTGAGGCTGAGTATCGGGAGGCTGAGGCAGGAGGATCACTTGAGCCCAGCAGTTCCAGGCTGCAGTGCGCTAAGATCGCACCGCTGCACTCCAACCTCGGTGACAGAGCCAGACCCTTTCTCTGGAAATAAATAAATACCCTGCCCACATGCTCAGCCCAGAACAGCACCTAGTAGGTGCTCAGAAATTTTTTTGTTGTTGAAAGAAAGAGGATGGCAAAGGAGTGCTGAGGTTCCTATAGGTCAGCAGGTGCCGGCCATCCCTTCTGCAGGTTCTCCCACCCACCGCCTTCTTCACTCCACTCTGCAGGCTTTATGACTCCGGCAGAACACAAGCAGTTGGAGAAACTGAGCCTACCACACAACATGTTCTGGGTGCCCTGGGTGTGGTTTGCCAACCTGTCAATGAAGGCGTGGCTTGGAGGTCGAATCCGGGACCCTATCCTGCTCCAGAGCCTGCTGAACGTGAGCCCACTGTACAGACAGGGCTGCCGCAGAGTGGGAAGGGCTGTGGTCCACAGGAAACAAGGTTTCCTACAAAGAGAAGCCTTGGGCCCCTGAGGGTCTTCCGAGAGCCTGAGGTGGGGTTGCAGAATCTTTTCCAACAGCAATCCACAGCCCGAGGTGGTCCCTTCTCAGAGGCCCCTCCCTCTTCTCCAAGTCTGTGAGGTCCTGGTTCCCTTTTGATAGATGAGGAAGCTGAGACACAAAGAGGTTTAGTGAGCTTCCCATGGCCACACAGCCAGGAATGGACCATAGGTACCAGGCCCTGGTACCTGGAGAAGAGGTGGGGGCGAGCCCAGGGTGGGGGCAGGTGGTGTTCAGAACCCCATCCCCCTCTTCTGCCCCCCAGGAGATGAACACCTTGCGTACTCAGTGTGGACACCTGTATGCCTACGACTGGATTAGTATCCCACTGGTGTATACACAGGTGAGGACTAGGCTGGTGAGGCTGCCCTTTTGGGAAACTGAGGCTAGAAGGACCAAGGAAGCAGCTGGGGTGGGAAGGGCTCACCTAGAGGCTAAGTGGCTCCCCTGGGAGTTGGGTCCACACTTTGAAGTTGGGTCTGGACTTTGAAGTGCCAAGTTCTAAGAGTCCAGGCTCCTGCCTGGCCCAGTCCAGTAGAGGCAATGTGATTATCCCCATATTAAAGAGAGGTTGGCCGGGTGCAGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAAGCTGAGGCAGGTGGATCACCTGAGGTCAGGAGTTCGAGACCAGCCTGGCCAACATGGTGAAACCCCATCTCTACTGAAAATACAGAATTAGCTGTGTGGTGGTGCACGCCTGTAATCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATCGCTTGAACCCGGGAGGTGGAGGTTGCAGTGAGCTGAGATCATGCCACTGCACTCCAGCCTGGGCGACACAGCAAGACTCTGTCTCAAACAAACAAACAAACAAACAAACAAAGGGGTTAACAGAGCCCCTAAGTCACATAAGTGTGCAAGTCAGAACAAGGCCTTGGTCTCCTGTCTCAGACTCCCAGCCCCTGGAGCATCCTGATTTCAGGGTTCCCACCTAGCCCTTTGCTACCACATCCTCCTCCTCCTCCCAGGTGGTGACTGTGGCGGTGTACAGCTTCTTCCTGACTTGTCTAGTTGGGTGGCAGTTTCTGAACCCAGCCAAGGCCTACCCTGGCCATGAGCTGGACCTCGTTGTGCCCGTCTTCACGTTCCTGCAGTTCTTCTTCTATGTTGGCTGGCTGAAGGTGGGCCTCTCCAGGGCCCTGCTGGGCTGGAGGCATGGCCAGAGGGGTCATGGCCAGCAGCTGCCTGAGACGAGGATGCAGTGTCAGGAAAGGAAGGTCTCACGGGTAGAAAGCAGCCAGGCGTGGTGGCGCACACCTGTAATCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATCGCTTGAACCCGGGAGGCGGAGGTTGTGGTGAGTTGAGATCGTGCCACTGCACTCCAGCCTGGGCAAAAGAATGAAACTCTATCTCAAAAACAACAACAACAACAAAACAAAGCCCTAAGGTTCAGAAGCCCCTGCCCTTTAGAAGGCAGATCGGCACCACCTCTCCTTATTCAAGATGCCTGTTGGGCTGTCTTGTTCCTCACCTCAAGTGGCTTGTCCAGGTATTCCCTCCCACCACAGCCAATACTCCGAACAGATGTTCTGAATCACACAGTTTTCTCTCCACCTCTTTATCTTTCCTTCCTTCTGTTGCCCACCCACTCTCTCTCCCTTCCTACCTTCCTTTATTTTTTGGTAATGGGGGTGTAAGTCTCTGTCTCTGCCCTTCCTGTCACTGTGACACACACACACACACACACACACACACACACATACACACACACACACACGCATTCCTATTCCTCTAAATTCCCCCTGCCCCCCCAGTTATCTTTGGTTTCTGCAGATCAAAACAAATCACACTTTTATGCTTGAAATTCTCCGGGGTGCCCCAGTGGCCTGCAAGATGTCCCCTGGACCCCTAAGGCAGACGCGTGTCACCTCTTCGGGGCTTTGTTAGGGCATTTTAGAGGTTGCTATCCAGGAATCTGCCCACCTAGACTGCCCTTTAGTTCAGCCCAGCTTCAGTATATATCTCTGTTGCATGAATGAATAAAATTATGCAACTCCAGGTAAGATACATGAGGTGAGATAAAGGCAGTGACTCAGCCGAGTGATACACTCAGGGACAGCTGTGGGTGTTCAGGGAAGGACTGGCTCAGAAGAGTTAGAGGGGCTGTGTCCAGAAGTGTGTGGGTGCCCACAAGTGTGGGGGGCTGGAGCCCTAAACTCTGCCTTTGAAGACAGTGGTCAGGCAGGAAGGGCGTCATGGGGTGTGGAAATAGCAGCAGCTGAGGTTTAAAGGGGGAAGCTGGCTTTGAGGAGTTCTGCCTGAGGGTTTACAGAGCCTCACCTGTCCCCAAGGTGGCAGAGCAGCTCATCAACCCCTTTGGAGAGGATGATGATGATTTTGAGACCAACTGGATTGTCGACAGGAATTTGCAGGTATGGGGAGAGGGAGAGAAACCATACCATGGACCTTCCCCAAAGTGGACCCAAAGAGAGGACCCCACTGTTCTGTAGGGAGGCCTCACAGTGAATGATCAACCCTTCCCCTCCTCCCTCCTGCAGCCAGTCATTCACTCACAGGATTCTCACCTCAATCTTTGAGGCTGCAGGCAGGCACCCATCTCCCCATTTCACAGGCAGGGAAACTGAGGTCCAGAGAGAGGGAGAGATTCCTCCAAGTCATCAGGCACATACAAGGTCCTGCCTGGGATGATCTTTCTGTGGGACTTCTTCTGTCCCTGGTGACCAGGTGTCCCTGTTGGCTGTGGATGAGATGCACCAGGACCTGCCTCGGATGGAGCCGGACATGTACTGGAATAAGCCCGAGCCACAGCCCCCCTACACAGCTGCTTCCGCCCAGTTCCGTCGAGCCTCCTTTATGGGCTCCACCTTCAACATCAGGTGTGGCCAGAGCCAGGGGGCTGGGTGGGAAGCCCCTCCTAGTGCAGGGGTCTGCCTAGGAACTTAGAATAGCACTAGTTAATGCATACAGGTTGCTTCAGTAAGTGTCAGGCACTGTACTATGCTCTTTATAAACATTAACTATTTTTTTCCTCCCAATAATTCTGGTTTGTTATCCCAAGTTTTCAGATAATTAAA
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Task1_train_15930
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A variant has been detected on Chromosome 11 in BEST1 (bestrophin 1). What is its effect — pathogenic or benign? If pathogenic, name the disease.
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Pathogenic; Autosomal recessive bestrophinopathy
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CAGGAGCCCACCCTCCGAGAGTAGGAGTCTGAGGCAGGGCTAAGGACCCTTGAGGGATAATGGAAAGAAGGGTGACGGCTTGGGAACTGGTGAGGTACTAGGGTCTACTTCCCTCTGCCCTTGCCCCTCTTGATCTCCGGTTTCCACTCTGGAGGTATGGGACATTGGTCTCTGACACCCCCTCAGCCTGGCCTGACCTGGTCCTGGTTAATAAGACAGACCCAGGCTAGGCGTGGTGGCTGTCGCCTGTAATCCCAGTGCTTTAGGAGGCAAAGGTGGGAAGATCGCTTGAGCCCAGCTGTTTGAGACGCCCCTGAGCAACATAGCGAGACCCCCATCTCTACAAAAACATTAAAAATTAGCAGGGCATGGTGGCGTGTGCCTGCAGTCTGAGGCTGAGTATCGGGAGGCTGAGGCAGGAGGATCACTTGAGCCCAGCAGTTCCAGGCTGCAGTGCGCTAAGATCGCACCGCTGCACTCCAACCTCGGTGACAGAGCCAGACCCTTTCTCTGGAAATAAATAAATACCCTGCCCACATGCTCAGCCCAGAACAGCACCTAGTAGGTGCTCAGAAATTTTTTTGTTGTTGAAAGAAAGAGGATGGCAAAGGAGTGCTGAGGTTCCTATAGGTCAGCAGGTGCCGGCCATCCCTTCTGCAGGTTCTCCCACCCACCGCCTTCTTCACTCCACTCTGCAGGCTTTATGACTCCGGCAGAACACAAGCAGTTGGAGAAACTGAGCCTACCACACAACATGTTCTGGGTGCCCTGGGTGTGGTTTGCCAACCTGTCAATGAAGGCGTGGCTTGGAGGTCGAATCCGGGACCCTATCCTGCTCCAGAGCCTGCTGAACGTGAGCCCACTGTACAGACAGGGCTGCCGCAGAGTGGGAAGGGCTGTGGTCCACAGGAAACAAGGTTTCCTACAAAGAGAAGCCTTGGGCCCCTGAGGGTCTTCCGAGAGCCTGAGGTGGGGTTGCAGAATCTTTTCCAACAGCAATCCACAGCCCGAGGTGGTCCCTTCTCAGAGGCCCCTCCCTCTTCTCCAAGTCTGTGAGGTCCTGGTTCCCTTTTGATAGATGAGGAAGCTGAGACACAAAGAGGTTTAGTGAGCTTCCCATGGCCACACAGCCAGGAATGGACCATAGGTACCAGGCCCTGGTACCTGGAGAAGAGGTGGGGGCGAGCCCAGGGTGGGGGCAGGTGGTGTTCAGAACCCCATCCCCCTCTTCTGCCCCCCAGGAGATGAACACCTTGCGTACTCAGTGTGGACACCTGTATGCCTACGACTGGATTAGTATCCCACTGGTGTATACACAGGTGAGGACTAGGCTGGTGAGGCTGCCCTTTTGGGAAACTGAGGCTAGAAGGACCAAGGAAGCAGCTGGGGTGGGAAGGGCTCACCTAGAGGCTAAGTGGCTCCCCTGGGAGTTGGGTCCACACTTTGAAGTTGGGTCTGGACTTTGAAGTGCCAAGTTCTAAGAGTCCAGGCTCCTGCCTGGCCCAGTCCAGTAGAGGCAATGTGATTATCCCCATATTAAAGAGAGGTTGGCCGGGTGCAGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAAGCTGAGGCAGGTGGATCACCTGAGGTCAGGAGTTCGAGACCAGCCTGGCCAACATGGTGAAACCCCATCTCTACTGAAAATACAGAATTAGCTGTGTGGTGGTGCACGCCTGTAATCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATCGCTTGAACCCGGGAGGTGGAGGTTGCAGTGAGCTGAGATCATGCCACTGCACTCCAGCCTGGGCGACACAGCAAGACTCTGTCTCAAACAAACAAACAAACAAACAAACAAAGGGGTTAACAGAGCCCCTAAGTCACATAAGTGTGCAAGTCAGAACAAGGCCTTGGTCTCCTGTCTCAGACTCCCAGCCCCTGGAGCATCCTGATTTCAGGGTTCCCACCTAGCCCTTTGCTACCACATCCTCCTCCTCCTCCCAGGTGGTGACTGTGGCGGTGTACAGCTTCTTCCTGACTTGTCTAGTTGGGCGGCAGTTTCTGAACCCAGCCAAGGCCTACCCTGGCCATGAGCTGGACCTCGTTGTGCCCGTCTTCACGTTCCTGCAGTTCTTCTTCTATGTTGGCTGGCTGAAGGTGGGCCTCTCCAGGGCCCTGCTGGGCTGGAGGCATGGCCAGAGGGGTCATGGCCAGCAGCTGCCTGAGACGAGGATGCAGTGTCAGGAAAGGAAGGTCTCACGGGTAGAAAGCAGCCAGGCGTGGTGGCGCACACCTGTAATCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATCGCTTGAACCCGGGAGGCGGAGGTTGTGGTGAGTTGAGATCGTGCCACTGCACTCCAGCCTGGGCAAAAGAATGAAACTCTATCTCAAAAACAACAACAACAACAAAACAAAGCCCTAAGGTTCAGAAGCCCCTGCCCTTTAGAAGGCAGATCGGCACCACCTCTCCTTATTCAAGATGCCTGTTGGGCTGTCTTGTTCCTCACCTCAAGTGGCTTGTCCAGGTATTCCCTCCCACCACAGCCAATACTCCGAACAGATGTTCTGAATCACACAGTTTTCTCTCCACCTCTTTATCTTTCCTTCCTTCTGTTGCCCACCCACTCTCTCTCCCTTCCTACCTTCCTTTATTTTTTGGTAATGGGGGTGTAAGTCTCTGTCTCTGCCCTTCCTGTCACTGTGACACACACACACACACACACACACACACACACATACACACACACACACACGCATTCCTATTCCTCTAAATTCCCCCTGCCCCCCCAGTTATCTTTGGTTTCTGCAGATCAAAACAAATCACACTTTTATGCTTGAAATTCTCCGGGGTGCCCCAGTGGCCTGCAAGATGTCCCCTGGACCCCTAAGGCAGACGCGTGTCACCTCTTCGGGGCTTTGTTAGGGCATTTTAGAGGTTGCTATCCAGGAATCTGCCCACCTAGACTGCCCTTTAGTTCAGCCCAGCTTCAGTATATATCTCTGTTGCATGAATGAATAAAATTATGCAACTCCAGGTAAGATACATGAGGTGAGATAAAGGCAGTGACTCAGCCGAGTGATACACTCAGGGACAGCTGTGGGTGTTCAGGGAAGGACTGGCTCAGAAGAGTTAGAGGGGCTGTGTCCAGAAGTGTGTGGGTGCCCACAAGTGTGGGGGGCTGGAGCCCTAAACTCTGCCTTTGAAGACAGTGGTCAGGCAGGAAGGGCGTCATGGGGTGTGGAAATAGCAGCAGCTGAGGTTTAAAGGGGGAAGCTGGCTTTGAGGAGTTCTGCCTGAGGGTTTACAGAGCCTCACCTGTCCCCAAGGTGGCAGAGCAGCTCATCAACCCCTTTGGAGAGGATGATGATGATTTTGAGACCAACTGGATTGTCGACAGGAATTTGCAGGTATGGGGAGAGGGAGAGAAACCATACCATGGACCTTCCCCAAAGTGGACCCAAAGAGAGGACCCCACTGTTCTGTAGGGAGGCCTCACAGTGAATGATCAACCCTTCCCCTCCTCCCTCCTGCAGCCAGTCATTCACTCACAGGATTCTCACCTCAATCTTTGAGGCTGCAGGCAGGCACCCATCTCCCCATTTCACAGGCAGGGAAACTGAGGTCCAGAGAGAGGGAGAGATTCCTCCAAGTCATCAGGCACATACAAGGTCCTGCCTGGGATGATCTTTCTGTGGGACTTCTTCTGTCCCTGGTGACCAGGTGTCCCTGTTGGCTGTGGATGAGATGCACCAGGACCTGCCTCGGATGGAGCCGGACATGTACTGGAATAAGCCCGAGCCACAGCCCCCCTACACAGCTGCTTCCGCCCAGTTCCGTCGAGCCTCCTTTATGGGCTCCACCTTCAACATCAGGTGTGGCCAGAGCCAGGGGGCTGGGTGGGAAGCCCCTCCTAGTGCAGGGGTCTGCCTAGGAACTTAGAATAGCACTAGTTAATGCATACAGGTTGCTTCAGTAAGTGTCAGGCACTGTACTATGCTCTTTATAAACATTAACTATTTTTTTCCTCCCAATAATTCTGGTTTGTTATCCCAAGTTTTCAGATAATTAAA
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CAGGAGCCCACCCTCCGAGAGTAGGAGTCTGAGGCAGGGCTAAGGACCCTTGAGGGATAATGGAAAGAAGGGTGACGGCTTGGGAACTGGTGAGGTACTAGGGTCTACTTCCCTCTGCCCTTGCCCCTCTTGATCTCCGGTTTCCACTCTGGAGGTATGGGACATTGGTCTCTGACACCCCCTCAGCCTGGCCTGACCTGGTCCTGGTTAATAAGACAGACCCAGGCTAGGCGTGGTGGCTGTCGCCTGTAATCCCAGTGCTTTAGGAGGCAAAGGTGGGAAGATCGCTTGAGCCCAGCTGTTTGAGACGCCCCTGAGCAACATAGCGAGACCCCCATCTCTACAAAAACATTAAAAATTAGCAGGGCATGGTGGCGTGTGCCTGCAGTCTGAGGCTGAGTATCGGGAGGCTGAGGCAGGAGGATCACTTGAGCCCAGCAGTTCCAGGCTGCAGTGCGCTAAGATCGCACCGCTGCACTCCAACCTCGGTGACAGAGCCAGACCCTTTCTCTGGAAATAAATAAATACCCTGCCCACATGCTCAGCCCAGAACAGCACCTAGTAGGTGCTCAGAAATTTTTTTGTTGTTGAAAGAAAGAGGATGGCAAAGGAGTGCTGAGGTTCCTATAGGTCAGCAGGTGCCGGCCATCCCTTCTGCAGGTTCTCCCACCCACCGCCTTCTTCACTCCACTCTGCAGGCTTTATGACTCCGGCAGAACACAAGCAGTTGGAGAAACTGAGCCTACCACACAACATGTTCTGGGTGCCCTGGGTGTGGTTTGCCAACCTGTCAATGAAGGCGTGGCTTGGAGGTCGAATCCGGGACCCTATCCTGCTCCAGAGCCTGCTGAACGTGAGCCCACTGTACAGACAGGGCTGCCGCAGAGTGGGAAGGGCTGTGGTCCACAGGAAACAAGGTTTCCTACAAAGAGAAGCCTTGGGCCCCTGAGGGTCTTCCGAGAGCCTGAGGTGGGGTTGCAGAATCTTTTCCAACAGCAATCCACAGCCCGAGGTGGTCCCTTCTCAGAGGCCCCTCCCTCTTCTCCAAGTCTGTGAGGTCCTGGTTCCCTTTTGATAGATGAGGAAGCTGAGACACAAAGAGGTTTAGTGAGCTTCCCATGGCCACACAGCCAGGAATGGACCATAGGTACCAGGCCCTGGTACCTGGAGAAGAGGTGGGGGCGAGCCCAGGGTGGGGGCAGGTGGTGTTCAGAACCCCATCCCCCTCTTCTGCCCCCCAGGAGATGAACACCTTGCGTACTCAGTGTGGACACCTGTATGCCTACGACTGGATTAGTATCCCACTGGTGTATACACAGGTGAGGACTAGGCTGGTGAGGCTGCCCTTTTGGGAAACTGAGGCTAGAAGGACCAAGGAAGCAGCTGGGGTGGGAAGGGCTCACCTAGAGGCTAAGTGGCTCCCCTGGGAGTTGGGTCCACACTTTGAAGTTGGGTCTGGACTTTGAAGTGCCAAGTTCTAAGAGTCCAGGCTCCTGCCTGGCCCAGTCCAGTAGAGGCAATGTGATTATCCCCATATTAAAGAGAGGTTGGCCGGGTGCAGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAAGCTGAGGCAGGTGGATCACCTGAGGTCAGGAGTTCGAGACCAGCCTGGCCAACATGGTGAAACCCCATCTCTACTGAAAATACAGAATTAGCTGTGTGGTGGTGCACGCCTGTAATCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATCGCTTGAACCCGGGAGGTGGAGGTTGCAGTGAGCTGAGATCATGCCACTGCACTCCAGCCTGGGCGACACAGCAAGACTCTGTCTCAAACAAACAAACAAACAAACAAACAAAGGGGTTAACAGAGCCCCTAAGTCACATAAGTGTGCAAGTCAGAACAAGGCCTTGGTCTCCTGTCTCAGACTCCCAGCCCCTGGAGCATCCTGATTTCAGGGTTCCCACCTAGCCCTTTGCTACCACATCCTCCTCCTCCTCCCAGGTGGTGACTGTGGCGGTGTACAGCTTCTTCCTGACTTGTCTAGTTGGGTGGCAGTTTCTGAACCCAGCCAAGGCCTACCCTGGCCATGAGCTGGACCTCGTTGTGCCCGTCTTCACGTTCCTGCAGTTCTTCTTCTATGTTGGCTGGCTGAAGGTGGGCCTCTCCAGGGCCCTGCTGGGCTGGAGGCATGGCCAGAGGGGTCATGGCCAGCAGCTGCCTGAGACGAGGATGCAGTGTCAGGAAAGGAAGGTCTCACGGGTAGAAAGCAGCCAGGCGTGGTGGCGCACACCTGTAATCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATCGCTTGAACCCGGGAGGCGGAGGTTGTGGTGAGTTGAGATCGTGCCACTGCACTCCAGCCTGGGCAAAAGAATGAAACTCTATCTCAAAAACAACAACAACAACAAAACAAAGCCCTAAGGTTCAGAAGCCCCTGCCCTTTAGAAGGCAGATCGGCACCACCTCTCCTTATTCAAGATGCCTGTTGGGCTGTCTTGTTCCTCACCTCAAGTGGCTTGTCCAGGTATTCCCTCCCACCACAGCCAATACTCCGAACAGATGTTCTGAATCACACAGTTTTCTCTCCACCTCTTTATCTTTCCTTCCTTCTGTTGCCCACCCACTCTCTCTCCCTTCCTACCTTCCTTTATTTTTTGGTAATGGGGGTGTAAGTCTCTGTCTCTGCCCTTCCTGTCACTGTGACACACACACACACACACACACACACACACACATACACACACACACACACGCATTCCTATTCCTCTAAATTCCCCCTGCCCCCCCAGTTATCTTTGGTTTCTGCAGATCAAAACAAATCACACTTTTATGCTTGAAATTCTCCGGGGTGCCCCAGTGGCCTGCAAGATGTCCCCTGGACCCCTAAGGCAGACGCGTGTCACCTCTTCGGGGCTTTGTTAGGGCATTTTAGAGGTTGCTATCCAGGAATCTGCCCACCTAGACTGCCCTTTAGTTCAGCCCAGCTTCAGTATATATCTCTGTTGCATGAATGAATAAAATTATGCAACTCCAGGTAAGATACATGAGGTGAGATAAAGGCAGTGACTCAGCCGAGTGATACACTCAGGGACAGCTGTGGGTGTTCAGGGAAGGACTGGCTCAGAAGAGTTAGAGGGGCTGTGTCCAGAAGTGTGTGGGTGCCCACAAGTGTGGGGGGCTGGAGCCCTAAACTCTGCCTTTGAAGACAGTGGTCAGGCAGGAAGGGCGTCATGGGGTGTGGAAATAGCAGCAGCTGAGGTTTAAAGGGGGAAGCTGGCTTTGAGGAGTTCTGCCTGAGGGTTTACAGAGCCTCACCTGTCCCCAAGGTGGCAGAGCAGCTCATCAACCCCTTTGGAGAGGATGATGATGATTTTGAGACCAACTGGATTGTCGACAGGAATTTGCAGGTATGGGGAGAGGGAGAGAAACCATACCATGGACCTTCCCCAAAGTGGACCCAAAGAGAGGACCCCACTGTTCTGTAGGGAGGCCTCACAGTGAATGATCAACCCTTCCCCTCCTCCCTCCTGCAGCCAGTCATTCACTCACAGGATTCTCACCTCAATCTTTGAGGCTGCAGGCAGGCACCCATCTCCCCATTTCACAGGCAGGGAAACTGAGGTCCAGAGAGAGGGAGAGATTCCTCCAAGTCATCAGGCACATACAAGGTCCTGCCTGGGATGATCTTTCTGTGGGACTTCTTCTGTCCCTGGTGACCAGGTGTCCCTGTTGGCTGTGGATGAGATGCACCAGGACCTGCCTCGGATGGAGCCGGACATGTACTGGAATAAGCCCGAGCCACAGCCCCCCTACACAGCTGCTTCCGCCCAGTTCCGTCGAGCCTCCTTTATGGGCTCCACCTTCAACATCAGGTGTGGCCAGAGCCAGGGGGCTGGGTGGGAAGCCCCTCCTAGTGCAGGGGTCTGCCTAGGAACTTAGAATAGCACTAGTTAATGCATACAGGTTGCTTCAGTAAGTGTCAGGCACTGTACTATGCTCTTTATAAACATTAACTATTTTTTTCCTCCCAATAATTCTGGTTTGTTATCCCAAGTTTTCAGATAATTAAA
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Task1_train_15931
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A variant was discovered on Chromosome 11, affecting BEST1 (bestrophin 1). What is its functional impact — neutral or pathogenic? State the disease if pathogenic.
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Pathogenic; Retinitis pigmentosa 50
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CAGGAGCCCACCCTCCGAGAGTAGGAGTCTGAGGCAGGGCTAAGGACCCTTGAGGGATAATGGAAAGAAGGGTGACGGCTTGGGAACTGGTGAGGTACTAGGGTCTACTTCCCTCTGCCCTTGCCCCTCTTGATCTCCGGTTTCCACTCTGGAGGTATGGGACATTGGTCTCTGACACCCCCTCAGCCTGGCCTGACCTGGTCCTGGTTAATAAGACAGACCCAGGCTAGGCGTGGTGGCTGTCGCCTGTAATCCCAGTGCTTTAGGAGGCAAAGGTGGGAAGATCGCTTGAGCCCAGCTGTTTGAGACGCCCCTGAGCAACATAGCGAGACCCCCATCTCTACAAAAACATTAAAAATTAGCAGGGCATGGTGGCGTGTGCCTGCAGTCTGAGGCTGAGTATCGGGAGGCTGAGGCAGGAGGATCACTTGAGCCCAGCAGTTCCAGGCTGCAGTGCGCTAAGATCGCACCGCTGCACTCCAACCTCGGTGACAGAGCCAGACCCTTTCTCTGGAAATAAATAAATACCCTGCCCACATGCTCAGCCCAGAACAGCACCTAGTAGGTGCTCAGAAATTTTTTTGTTGTTGAAAGAAAGAGGATGGCAAAGGAGTGCTGAGGTTCCTATAGGTCAGCAGGTGCCGGCCATCCCTTCTGCAGGTTCTCCCACCCACCGCCTTCTTCACTCCACTCTGCAGGCTTTATGACTCCGGCAGAACACAAGCAGTTGGAGAAACTGAGCCTACCACACAACATGTTCTGGGTGCCCTGGGTGTGGTTTGCCAACCTGTCAATGAAGGCGTGGCTTGGAGGTCGAATCCGGGACCCTATCCTGCTCCAGAGCCTGCTGAACGTGAGCCCACTGTACAGACAGGGCTGCCGCAGAGTGGGAAGGGCTGTGGTCCACAGGAAACAAGGTTTCCTACAAAGAGAAGCCTTGGGCCCCTGAGGGTCTTCCGAGAGCCTGAGGTGGGGTTGCAGAATCTTTTCCAACAGCAATCCACAGCCCGAGGTGGTCCCTTCTCAGAGGCCCCTCCCTCTTCTCCAAGTCTGTGAGGTCCTGGTTCCCTTTTGATAGATGAGGAAGCTGAGACACAAAGAGGTTTAGTGAGCTTCCCATGGCCACACAGCCAGGAATGGACCATAGGTACCAGGCCCTGGTACCTGGAGAAGAGGTGGGGGCGAGCCCAGGGTGGGGGCAGGTGGTGTTCAGAACCCCATCCCCCTCTTCTGCCCCCCAGGAGATGAACACCTTGCGTACTCAGTGTGGACACCTGTATGCCTACGACTGGATTAGTATCCCACTGGTGTATACACAGGTGAGGACTAGGCTGGTGAGGCTGCCCTTTTGGGAAACTGAGGCTAGAAGGACCAAGGAAGCAGCTGGGGTGGGAAGGGCTCACCTAGAGGCTAAGTGGCTCCCCTGGGAGTTGGGTCCACACTTTGAAGTTGGGTCTGGACTTTGAAGTGCCAAGTTCTAAGAGTCCAGGCTCCTGCCTGGCCCAGTCCAGTAGAGGCAATGTGATTATCCCCATATTAAAGAGAGGTTGGCCGGGTGCAGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAAGCTGAGGCAGGTGGATCACCTGAGGTCAGGAGTTCGAGACCAGCCTGGCCAACATGGTGAAACCCCATCTCTACTGAAAATACAGAATTAGCTGTGTGGTGGTGCACGCCTGTAATCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATCGCTTGAACCCGGGAGGTGGAGGTTGCAGTGAGCTGAGATCATGCCACTGCACTCCAGCCTGGGCGACACAGCAAGACTCTGTCTCAAACAAACAAACAAACAAACAAACAAAGGGGTTAACAGAGCCCCTAAGTCACATAAGTGTGCAAGTCAGAACAAGGCCTTGGTCTCCTGTCTCAGACTCCCAGCCCCTGGAGCATCCTGATTTCAGGGTTCCCACCTAGCCCTTTGCTACCACATCCTCCTCCTCCTCCCAGGTGGTGACTGTGGCGGTGTACAGCTTCTTCCTGACTTGTCTAGTTGGGCGGCAGTTTCTGAACCCAGCCAAGGCCTACCCTGGCCATGAGCTGGACCTCGTTGTGCCCGTCTTCACGTTCCTGCAGTTCTTCTTCTATGTTGGCTGGCTGAAGGTGGGCCTCTCCAGGGCCCTGCTGGGCTGGAGGCATGGCCAGAGGGGTCATGGCCAGCAGCTGCCTGAGACGAGGATGCAGTGTCAGGAAAGGAAGGTCTCACGGGTAGAAAGCAGCCAGGCGTGGTGGCGCACACCTGTAATCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATCGCTTGAACCCGGGAGGCGGAGGTTGTGGTGAGTTGAGATCGTGCCACTGCACTCCAGCCTGGGCAAAAGAATGAAACTCTATCTCAAAAACAACAACAACAACAAAACAAAGCCCTAAGGTTCAGAAGCCCCTGCCCTTTAGAAGGCAGATCGGCACCACCTCTCCTTATTCAAGATGCCTGTTGGGCTGTCTTGTTCCTCACCTCAAGTGGCTTGTCCAGGTATTCCCTCCCACCACAGCCAATACTCCGAACAGATGTTCTGAATCACACAGTTTTCTCTCCACCTCTTTATCTTTCCTTCCTTCTGTTGCCCACCCACTCTCTCTCCCTTCCTACCTTCCTTTATTTTTTGGTAATGGGGGTGTAAGTCTCTGTCTCTGCCCTTCCTGTCACTGTGACACACACACACACACACACACACACACACACATACACACACACACACACGCATTCCTATTCCTCTAAATTCCCCCTGCCCCCCCAGTTATCTTTGGTTTCTGCAGATCAAAACAAATCACACTTTTATGCTTGAAATTCTCCGGGGTGCCCCAGTGGCCTGCAAGATGTCCCCTGGACCCCTAAGGCAGACGCGTGTCACCTCTTCGGGGCTTTGTTAGGGCATTTTAGAGGTTGCTATCCAGGAATCTGCCCACCTAGACTGCCCTTTAGTTCAGCCCAGCTTCAGTATATATCTCTGTTGCATGAATGAATAAAATTATGCAACTCCAGGTAAGATACATGAGGTGAGATAAAGGCAGTGACTCAGCCGAGTGATACACTCAGGGACAGCTGTGGGTGTTCAGGGAAGGACTGGCTCAGAAGAGTTAGAGGGGCTGTGTCCAGAAGTGTGTGGGTGCCCACAAGTGTGGGGGGCTGGAGCCCTAAACTCTGCCTTTGAAGACAGTGGTCAGGCAGGAAGGGCGTCATGGGGTGTGGAAATAGCAGCAGCTGAGGTTTAAAGGGGGAAGCTGGCTTTGAGGAGTTCTGCCTGAGGGTTTACAGAGCCTCACCTGTCCCCAAGGTGGCAGAGCAGCTCATCAACCCCTTTGGAGAGGATGATGATGATTTTGAGACCAACTGGATTGTCGACAGGAATTTGCAGGTATGGGGAGAGGGAGAGAAACCATACCATGGACCTTCCCCAAAGTGGACCCAAAGAGAGGACCCCACTGTTCTGTAGGGAGGCCTCACAGTGAATGATCAACCCTTCCCCTCCTCCCTCCTGCAGCCAGTCATTCACTCACAGGATTCTCACCTCAATCTTTGAGGCTGCAGGCAGGCACCCATCTCCCCATTTCACAGGCAGGGAAACTGAGGTCCAGAGAGAGGGAGAGATTCCTCCAAGTCATCAGGCACATACAAGGTCCTGCCTGGGATGATCTTTCTGTGGGACTTCTTCTGTCCCTGGTGACCAGGTGTCCCTGTTGGCTGTGGATGAGATGCACCAGGACCTGCCTCGGATGGAGCCGGACATGTACTGGAATAAGCCCGAGCCACAGCCCCCCTACACAGCTGCTTCCGCCCAGTTCCGTCGAGCCTCCTTTATGGGCTCCACCTTCAACATCAGGTGTGGCCAGAGCCAGGGGGCTGGGTGGGAAGCCCCTCCTAGTGCAGGGGTCTGCCTAGGAACTTAGAATAGCACTAGTTAATGCATACAGGTTGCTTCAGTAAGTGTCAGGCACTGTACTATGCTCTTTATAAACATTAACTATTTTTTTCCTCCCAATAATTCTGGTTTGTTATCCCAAGTTTTCAGATAATTAAA
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CAGGAGCCCACCCTCCGAGAGTAGGAGTCTGAGGCAGGGCTAAGGACCCTTGAGGGATAATGGAAAGAAGGGTGACGGCTTGGGAACTGGTGAGGTACTAGGGTCTACTTCCCTCTGCCCTTGCCCCTCTTGATCTCCGGTTTCCACTCTGGAGGTATGGGACATTGGTCTCTGACACCCCCTCAGCCTGGCCTGACCTGGTCCTGGTTAATAAGACAGACCCAGGCTAGGCGTGGTGGCTGTCGCCTGTAATCCCAGTGCTTTAGGAGGCAAAGGTGGGAAGATCGCTTGAGCCCAGCTGTTTGAGACGCCCCTGAGCAACATAGCGAGACCCCCATCTCTACAAAAACATTAAAAATTAGCAGGGCATGGTGGCGTGTGCCTGCAGTCTGAGGCTGAGTATCGGGAGGCTGAGGCAGGAGGATCACTTGAGCCCAGCAGTTCCAGGCTGCAGTGCGCTAAGATCGCACCGCTGCACTCCAACCTCGGTGACAGAGCCAGACCCTTTCTCTGGAAATAAATAAATACCCTGCCCACATGCTCAGCCCAGAACAGCACCTAGTAGGTGCTCAGAAATTTTTTTGTTGTTGAAAGAAAGAGGATGGCAAAGGAGTGCTGAGGTTCCTATAGGTCAGCAGGTGCCGGCCATCCCTTCTGCAGGTTCTCCCACCCACCGCCTTCTTCACTCCACTCTGCAGGCTTTATGACTCCGGCAGAACACAAGCAGTTGGAGAAACTGAGCCTACCACACAACATGTTCTGGGTGCCCTGGGTGTGGTTTGCCAACCTGTCAATGAAGGCGTGGCTTGGAGGTCGAATCCGGGACCCTATCCTGCTCCAGAGCCTGCTGAACGTGAGCCCACTGTACAGACAGGGCTGCCGCAGAGTGGGAAGGGCTGTGGTCCACAGGAAACAAGGTTTCCTACAAAGAGAAGCCTTGGGCCCCTGAGGGTCTTCCGAGAGCCTGAGGTGGGGTTGCAGAATCTTTTCCAACAGCAATCCACAGCCCGAGGTGGTCCCTTCTCAGAGGCCCCTCCCTCTTCTCCAAGTCTGTGAGGTCCTGGTTCCCTTTTGATAGATGAGGAAGCTGAGACACAAAGAGGTTTAGTGAGCTTCCCATGGCCACACAGCCAGGAATGGACCATAGGTACCAGGCCCTGGTACCTGGAGAAGAGGTGGGGGCGAGCCCAGGGTGGGGGCAGGTGGTGTTCAGAACCCCATCCCCCTCTTCTGCCCCCCAGGAGATGAACACCTTGCGTACTCAGTGTGGACACCTGTATGCCTACGACTGGATTAGTATCCCACTGGTGTATACACAGGTGAGGACTAGGCTGGTGAGGCTGCCCTTTTGGGAAACTGAGGCTAGAAGGACCAAGGAAGCAGCTGGGGTGGGAAGGGCTCACCTAGAGGCTAAGTGGCTCCCCTGGGAGTTGGGTCCACACTTTGAAGTTGGGTCTGGACTTTGAAGTGCCAAGTTCTAAGAGTCCAGGCTCCTGCCTGGCCCAGTCCAGTAGAGGCAATGTGATTATCCCCATATTAAAGAGAGGTTGGCCGGGTGCAGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAAGCTGAGGCAGGTGGATCACCTGAGGTCAGGAGTTCGAGACCAGCCTGGCCAACATGGTGAAACCCCATCTCTACTGAAAATACAGAATTAGCTGTGTGGTGGTGCACGCCTGTAATCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATCGCTTGAACCCGGGAGGTGGAGGTTGCAGTGAGCTGAGATCATGCCACTGCACTCCAGCCTGGGCGACACAGCAAGACTCTGTCTCAAACAAACAAACAAACAAACAAACAAAGGGGTTAACAGAGCCCCTAAGTCACATAAGTGTGCAAGTCAGAACAAGGCCTTGGTCTCCTGTCTCAGACTCCCAGCCCCTGGAGCATCCTGATTTCAGGGTTCCCACCTAGCCCTTTGCTACCACATCCTCCTCCTCCTCCCAGGTGGTGACTGTGGCGGTGTACAGCTTCTTCCTGACTTGTCTAGTTGGGTGGCAGTTTCTGAACCCAGCCAAGGCCTACCCTGGCCATGAGCTGGACCTCGTTGTGCCCGTCTTCACGTTCCTGCAGTTCTTCTTCTATGTTGGCTGGCTGAAGGTGGGCCTCTCCAGGGCCCTGCTGGGCTGGAGGCATGGCCAGAGGGGTCATGGCCAGCAGCTGCCTGAGACGAGGATGCAGTGTCAGGAAAGGAAGGTCTCACGGGTAGAAAGCAGCCAGGCGTGGTGGCGCACACCTGTAATCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATCGCTTGAACCCGGGAGGCGGAGGTTGTGGTGAGTTGAGATCGTGCCACTGCACTCCAGCCTGGGCAAAAGAATGAAACTCTATCTCAAAAACAACAACAACAACAAAACAAAGCCCTAAGGTTCAGAAGCCCCTGCCCTTTAGAAGGCAGATCGGCACCACCTCTCCTTATTCAAGATGCCTGTTGGGCTGTCTTGTTCCTCACCTCAAGTGGCTTGTCCAGGTATTCCCTCCCACCACAGCCAATACTCCGAACAGATGTTCTGAATCACACAGTTTTCTCTCCACCTCTTTATCTTTCCTTCCTTCTGTTGCCCACCCACTCTCTCTCCCTTCCTACCTTCCTTTATTTTTTGGTAATGGGGGTGTAAGTCTCTGTCTCTGCCCTTCCTGTCACTGTGACACACACACACACACACACACACACACACACATACACACACACACACACGCATTCCTATTCCTCTAAATTCCCCCTGCCCCCCCAGTTATCTTTGGTTTCTGCAGATCAAAACAAATCACACTTTTATGCTTGAAATTCTCCGGGGTGCCCCAGTGGCCTGCAAGATGTCCCCTGGACCCCTAAGGCAGACGCGTGTCACCTCTTCGGGGCTTTGTTAGGGCATTTTAGAGGTTGCTATCCAGGAATCTGCCCACCTAGACTGCCCTTTAGTTCAGCCCAGCTTCAGTATATATCTCTGTTGCATGAATGAATAAAATTATGCAACTCCAGGTAAGATACATGAGGTGAGATAAAGGCAGTGACTCAGCCGAGTGATACACTCAGGGACAGCTGTGGGTGTTCAGGGAAGGACTGGCTCAGAAGAGTTAGAGGGGCTGTGTCCAGAAGTGTGTGGGTGCCCACAAGTGTGGGGGGCTGGAGCCCTAAACTCTGCCTTTGAAGACAGTGGTCAGGCAGGAAGGGCGTCATGGGGTGTGGAAATAGCAGCAGCTGAGGTTTAAAGGGGGAAGCTGGCTTTGAGGAGTTCTGCCTGAGGGTTTACAGAGCCTCACCTGTCCCCAAGGTGGCAGAGCAGCTCATCAACCCCTTTGGAGAGGATGATGATGATTTTGAGACCAACTGGATTGTCGACAGGAATTTGCAGGTATGGGGAGAGGGAGAGAAACCATACCATGGACCTTCCCCAAAGTGGACCCAAAGAGAGGACCCCACTGTTCTGTAGGGAGGCCTCACAGTGAATGATCAACCCTTCCCCTCCTCCCTCCTGCAGCCAGTCATTCACTCACAGGATTCTCACCTCAATCTTTGAGGCTGCAGGCAGGCACCCATCTCCCCATTTCACAGGCAGGGAAACTGAGGTCCAGAGAGAGGGAGAGATTCCTCCAAGTCATCAGGCACATACAAGGTCCTGCCTGGGATGATCTTTCTGTGGGACTTCTTCTGTCCCTGGTGACCAGGTGTCCCTGTTGGCTGTGGATGAGATGCACCAGGACCTGCCTCGGATGGAGCCGGACATGTACTGGAATAAGCCCGAGCCACAGCCCCCCTACACAGCTGCTTCCGCCCAGTTCCGTCGAGCCTCCTTTATGGGCTCCACCTTCAACATCAGGTGTGGCCAGAGCCAGGGGGCTGGGTGGGAAGCCCCTCCTAGTGCAGGGGTCTGCCTAGGAACTTAGAATAGCACTAGTTAATGCATACAGGTTGCTTCAGTAAGTGTCAGGCACTGTACTATGCTCTTTATAAACATTAACTATTTTTTTCCTCCCAATAATTCTGGTTTGTTATCCCAAGTTTTCAGATAATTAAA
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Task1_train_15932
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A mutation in BEST1 (bestrophin 1), located on Chromosome 11, is being studied. Determine whether it’s pathogenic or benign, and specify the linked disease.
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Pathogenic; Vitelliform macular dystrophy 2
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CAGGAGCCCACCCTCCGAGAGTAGGAGTCTGAGGCAGGGCTAAGGACCCTTGAGGGATAATGGAAAGAAGGGTGACGGCTTGGGAACTGGTGAGGTACTAGGGTCTACTTCCCTCTGCCCTTGCCCCTCTTGATCTCCGGTTTCCACTCTGGAGGTATGGGACATTGGTCTCTGACACCCCCTCAGCCTGGCCTGACCTGGTCCTGGTTAATAAGACAGACCCAGGCTAGGCGTGGTGGCTGTCGCCTGTAATCCCAGTGCTTTAGGAGGCAAAGGTGGGAAGATCGCTTGAGCCCAGCTGTTTGAGACGCCCCTGAGCAACATAGCGAGACCCCCATCTCTACAAAAACATTAAAAATTAGCAGGGCATGGTGGCGTGTGCCTGCAGTCTGAGGCTGAGTATCGGGAGGCTGAGGCAGGAGGATCACTTGAGCCCAGCAGTTCCAGGCTGCAGTGCGCTAAGATCGCACCGCTGCACTCCAACCTCGGTGACAGAGCCAGACCCTTTCTCTGGAAATAAATAAATACCCTGCCCACATGCTCAGCCCAGAACAGCACCTAGTAGGTGCTCAGAAATTTTTTTGTTGTTGAAAGAAAGAGGATGGCAAAGGAGTGCTGAGGTTCCTATAGGTCAGCAGGTGCCGGCCATCCCTTCTGCAGGTTCTCCCACCCACCGCCTTCTTCACTCCACTCTGCAGGCTTTATGACTCCGGCAGAACACAAGCAGTTGGAGAAACTGAGCCTACCACACAACATGTTCTGGGTGCCCTGGGTGTGGTTTGCCAACCTGTCAATGAAGGCGTGGCTTGGAGGTCGAATCCGGGACCCTATCCTGCTCCAGAGCCTGCTGAACGTGAGCCCACTGTACAGACAGGGCTGCCGCAGAGTGGGAAGGGCTGTGGTCCACAGGAAACAAGGTTTCCTACAAAGAGAAGCCTTGGGCCCCTGAGGGTCTTCCGAGAGCCTGAGGTGGGGTTGCAGAATCTTTTCCAACAGCAATCCACAGCCCGAGGTGGTCCCTTCTCAGAGGCCCCTCCCTCTTCTCCAAGTCTGTGAGGTCCTGGTTCCCTTTTGATAGATGAGGAAGCTGAGACACAAAGAGGTTTAGTGAGCTTCCCATGGCCACACAGCCAGGAATGGACCATAGGTACCAGGCCCTGGTACCTGGAGAAGAGGTGGGGGCGAGCCCAGGGTGGGGGCAGGTGGTGTTCAGAACCCCATCCCCCTCTTCTGCCCCCCAGGAGATGAACACCTTGCGTACTCAGTGTGGACACCTGTATGCCTACGACTGGATTAGTATCCCACTGGTGTATACACAGGTGAGGACTAGGCTGGTGAGGCTGCCCTTTTGGGAAACTGAGGCTAGAAGGACCAAGGAAGCAGCTGGGGTGGGAAGGGCTCACCTAGAGGCTAAGTGGCTCCCCTGGGAGTTGGGTCCACACTTTGAAGTTGGGTCTGGACTTTGAAGTGCCAAGTTCTAAGAGTCCAGGCTCCTGCCTGGCCCAGTCCAGTAGAGGCAATGTGATTATCCCCATATTAAAGAGAGGTTGGCCGGGTGCAGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAAGCTGAGGCAGGTGGATCACCTGAGGTCAGGAGTTCGAGACCAGCCTGGCCAACATGGTGAAACCCCATCTCTACTGAAAATACAGAATTAGCTGTGTGGTGGTGCACGCCTGTAATCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATCGCTTGAACCCGGGAGGTGGAGGTTGCAGTGAGCTGAGATCATGCCACTGCACTCCAGCCTGGGCGACACAGCAAGACTCTGTCTCAAACAAACAAACAAACAAACAAACAAAGGGGTTAACAGAGCCCCTAAGTCACATAAGTGTGCAAGTCAGAACAAGGCCTTGGTCTCCTGTCTCAGACTCCCAGCCCCTGGAGCATCCTGATTTCAGGGTTCCCACCTAGCCCTTTGCTACCACATCCTCCTCCTCCTCCCAGGTGGTGACTGTGGCGGTGTACAGCTTCTTCCTGACTTGTCTAGTTGGGCGGCAGTTTCTGAACCCAGCCAAGGCCTACCCTGGCCATGAGCTGGACCTCGTTGTGCCCGTCTTCACGTTCCTGCAGTTCTTCTTCTATGTTGGCTGGCTGAAGGTGGGCCTCTCCAGGGCCCTGCTGGGCTGGAGGCATGGCCAGAGGGGTCATGGCCAGCAGCTGCCTGAGACGAGGATGCAGTGTCAGGAAAGGAAGGTCTCACGGGTAGAAAGCAGCCAGGCGTGGTGGCGCACACCTGTAATCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATCGCTTGAACCCGGGAGGCGGAGGTTGTGGTGAGTTGAGATCGTGCCACTGCACTCCAGCCTGGGCAAAAGAATGAAACTCTATCTCAAAAACAACAACAACAACAAAACAAAGCCCTAAGGTTCAGAAGCCCCTGCCCTTTAGAAGGCAGATCGGCACCACCTCTCCTTATTCAAGATGCCTGTTGGGCTGTCTTGTTCCTCACCTCAAGTGGCTTGTCCAGGTATTCCCTCCCACCACAGCCAATACTCCGAACAGATGTTCTGAATCACACAGTTTTCTCTCCACCTCTTTATCTTTCCTTCCTTCTGTTGCCCACCCACTCTCTCTCCCTTCCTACCTTCCTTTATTTTTTGGTAATGGGGGTGTAAGTCTCTGTCTCTGCCCTTCCTGTCACTGTGACACACACACACACACACACACACACACACACATACACACACACACACACGCATTCCTATTCCTCTAAATTCCCCCTGCCCCCCCAGTTATCTTTGGTTTCTGCAGATCAAAACAAATCACACTTTTATGCTTGAAATTCTCCGGGGTGCCCCAGTGGCCTGCAAGATGTCCCCTGGACCCCTAAGGCAGACGCGTGTCACCTCTTCGGGGCTTTGTTAGGGCATTTTAGAGGTTGCTATCCAGGAATCTGCCCACCTAGACTGCCCTTTAGTTCAGCCCAGCTTCAGTATATATCTCTGTTGCATGAATGAATAAAATTATGCAACTCCAGGTAAGATACATGAGGTGAGATAAAGGCAGTGACTCAGCCGAGTGATACACTCAGGGACAGCTGTGGGTGTTCAGGGAAGGACTGGCTCAGAAGAGTTAGAGGGGCTGTGTCCAGAAGTGTGTGGGTGCCCACAAGTGTGGGGGGCTGGAGCCCTAAACTCTGCCTTTGAAGACAGTGGTCAGGCAGGAAGGGCGTCATGGGGTGTGGAAATAGCAGCAGCTGAGGTTTAAAGGGGGAAGCTGGCTTTGAGGAGTTCTGCCTGAGGGTTTACAGAGCCTCACCTGTCCCCAAGGTGGCAGAGCAGCTCATCAACCCCTTTGGAGAGGATGATGATGATTTTGAGACCAACTGGATTGTCGACAGGAATTTGCAGGTATGGGGAGAGGGAGAGAAACCATACCATGGACCTTCCCCAAAGTGGACCCAAAGAGAGGACCCCACTGTTCTGTAGGGAGGCCTCACAGTGAATGATCAACCCTTCCCCTCCTCCCTCCTGCAGCCAGTCATTCACTCACAGGATTCTCACCTCAATCTTTGAGGCTGCAGGCAGGCACCCATCTCCCCATTTCACAGGCAGGGAAACTGAGGTCCAGAGAGAGGGAGAGATTCCTCCAAGTCATCAGGCACATACAAGGTCCTGCCTGGGATGATCTTTCTGTGGGACTTCTTCTGTCCCTGGTGACCAGGTGTCCCTGTTGGCTGTGGATGAGATGCACCAGGACCTGCCTCGGATGGAGCCGGACATGTACTGGAATAAGCCCGAGCCACAGCCCCCCTACACAGCTGCTTCCGCCCAGTTCCGTCGAGCCTCCTTTATGGGCTCCACCTTCAACATCAGGTGTGGCCAGAGCCAGGGGGCTGGGTGGGAAGCCCCTCCTAGTGCAGGGGTCTGCCTAGGAACTTAGAATAGCACTAGTTAATGCATACAGGTTGCTTCAGTAAGTGTCAGGCACTGTACTATGCTCTTTATAAACATTAACTATTTTTTTCCTCCCAATAATTCTGGTTTGTTATCCCAAGTTTTCAGATAATTAAA
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CAGGAGCCCACCCTCCGAGAGTAGGAGTCTGAGGCAGGGCTAAGGACCCTTGAGGGATAATGGAAAGAAGGGTGACGGCTTGGGAACTGGTGAGGTACTAGGGTCTACTTCCCTCTGCCCTTGCCCCTCTTGATCTCCGGTTTCCACTCTGGAGGTATGGGACATTGGTCTCTGACACCCCCTCAGCCTGGCCTGACCTGGTCCTGGTTAATAAGACAGACCCAGGCTAGGCGTGGTGGCTGTCGCCTGTAATCCCAGTGCTTTAGGAGGCAAAGGTGGGAAGATCGCTTGAGCCCAGCTGTTTGAGACGCCCCTGAGCAACATAGCGAGACCCCCATCTCTACAAAAACATTAAAAATTAGCAGGGCATGGTGGCGTGTGCCTGCAGTCTGAGGCTGAGTATCGGGAGGCTGAGGCAGGAGGATCACTTGAGCCCAGCAGTTCCAGGCTGCAGTGCGCTAAGATCGCACCGCTGCACTCCAACCTCGGTGACAGAGCCAGACCCTTTCTCTGGAAATAAATAAATACCCTGCCCACATGCTCAGCCCAGAACAGCACCTAGTAGGTGCTCAGAAATTTTTTTGTTGTTGAAAGAAAGAGGATGGCAAAGGAGTGCTGAGGTTCCTATAGGTCAGCAGGTGCCGGCCATCCCTTCTGCAGGTTCTCCCACCCACCGCCTTCTTCACTCCACTCTGCAGGCTTTATGACTCCGGCAGAACACAAGCAGTTGGAGAAACTGAGCCTACCACACAACATGTTCTGGGTGCCCTGGGTGTGGTTTGCCAACCTGTCAATGAAGGCGTGGCTTGGAGGTCGAATCCGGGACCCTATCCTGCTCCAGAGCCTGCTGAACGTGAGCCCACTGTACAGACAGGGCTGCCGCAGAGTGGGAAGGGCTGTGGTCCACAGGAAACAAGGTTTCCTACAAAGAGAAGCCTTGGGCCCCTGAGGGTCTTCCGAGAGCCTGAGGTGGGGTTGCAGAATCTTTTCCAACAGCAATCCACAGCCCGAGGTGGTCCCTTCTCAGAGGCCCCTCCCTCTTCTCCAAGTCTGTGAGGTCCTGGTTCCCTTTTGATAGATGAGGAAGCTGAGACACAAAGAGGTTTAGTGAGCTTCCCATGGCCACACAGCCAGGAATGGACCATAGGTACCAGGCCCTGGTACCTGGAGAAGAGGTGGGGGCGAGCCCAGGGTGGGGGCAGGTGGTGTTCAGAACCCCATCCCCCTCTTCTGCCCCCCAGGAGATGAACACCTTGCGTACTCAGTGTGGACACCTGTATGCCTACGACTGGATTAGTATCCCACTGGTGTATACACAGGTGAGGACTAGGCTGGTGAGGCTGCCCTTTTGGGAAACTGAGGCTAGAAGGACCAAGGAAGCAGCTGGGGTGGGAAGGGCTCACCTAGAGGCTAAGTGGCTCCCCTGGGAGTTGGGTCCACACTTTGAAGTTGGGTCTGGACTTTGAAGTGCCAAGTTCTAAGAGTCCAGGCTCCTGCCTGGCCCAGTCCAGTAGAGGCAATGTGATTATCCCCATATTAAAGAGAGGTTGGCCGGGTGCAGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAAGCTGAGGCAGGTGGATCACCTGAGGTCAGGAGTTCGAGACCAGCCTGGCCAACATGGTGAAACCCCATCTCTACTGAAAATACAGAATTAGCTGTGTGGTGGTGCACGCCTGTAATCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATCGCTTGAACCCGGGAGGTGGAGGTTGCAGTGAGCTGAGATCATGCCACTGCACTCCAGCCTGGGCGACACAGCAAGACTCTGTCTCAAACAAACAAACAAACAAACAAACAAAGGGGTTAACAGAGCCCCTAAGTCACATAAGTGTGCAAGTCAGAACAAGGCCTTGGTCTCCTGTCTCAGACTCCCAGCCCCTGGAGCATCCTGATTTCAGGGTTCCCACCTAGCCCTTTGCTACCACATCCTCCTCCTCCTCCCAGGTGGTGACTGTGGCGGTGTACAGCTTCTTCCTGACTTGTCTAGTTGGGTGGCAGTTTCTGAACCCAGCCAAGGCCTACCCTGGCCATGAGCTGGACCTCGTTGTGCCCGTCTTCACGTTCCTGCAGTTCTTCTTCTATGTTGGCTGGCTGAAGGTGGGCCTCTCCAGGGCCCTGCTGGGCTGGAGGCATGGCCAGAGGGGTCATGGCCAGCAGCTGCCTGAGACGAGGATGCAGTGTCAGGAAAGGAAGGTCTCACGGGTAGAAAGCAGCCAGGCGTGGTGGCGCACACCTGTAATCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATCGCTTGAACCCGGGAGGCGGAGGTTGTGGTGAGTTGAGATCGTGCCACTGCACTCCAGCCTGGGCAAAAGAATGAAACTCTATCTCAAAAACAACAACAACAACAAAACAAAGCCCTAAGGTTCAGAAGCCCCTGCCCTTTAGAAGGCAGATCGGCACCACCTCTCCTTATTCAAGATGCCTGTTGGGCTGTCTTGTTCCTCACCTCAAGTGGCTTGTCCAGGTATTCCCTCCCACCACAGCCAATACTCCGAACAGATGTTCTGAATCACACAGTTTTCTCTCCACCTCTTTATCTTTCCTTCCTTCTGTTGCCCACCCACTCTCTCTCCCTTCCTACCTTCCTTTATTTTTTGGTAATGGGGGTGTAAGTCTCTGTCTCTGCCCTTCCTGTCACTGTGACACACACACACACACACACACACACACACACATACACACACACACACACGCATTCCTATTCCTCTAAATTCCCCCTGCCCCCCCAGTTATCTTTGGTTTCTGCAGATCAAAACAAATCACACTTTTATGCTTGAAATTCTCCGGGGTGCCCCAGTGGCCTGCAAGATGTCCCCTGGACCCCTAAGGCAGACGCGTGTCACCTCTTCGGGGCTTTGTTAGGGCATTTTAGAGGTTGCTATCCAGGAATCTGCCCACCTAGACTGCCCTTTAGTTCAGCCCAGCTTCAGTATATATCTCTGTTGCATGAATGAATAAAATTATGCAACTCCAGGTAAGATACATGAGGTGAGATAAAGGCAGTGACTCAGCCGAGTGATACACTCAGGGACAGCTGTGGGTGTTCAGGGAAGGACTGGCTCAGAAGAGTTAGAGGGGCTGTGTCCAGAAGTGTGTGGGTGCCCACAAGTGTGGGGGGCTGGAGCCCTAAACTCTGCCTTTGAAGACAGTGGTCAGGCAGGAAGGGCGTCATGGGGTGTGGAAATAGCAGCAGCTGAGGTTTAAAGGGGGAAGCTGGCTTTGAGGAGTTCTGCCTGAGGGTTTACAGAGCCTCACCTGTCCCCAAGGTGGCAGAGCAGCTCATCAACCCCTTTGGAGAGGATGATGATGATTTTGAGACCAACTGGATTGTCGACAGGAATTTGCAGGTATGGGGAGAGGGAGAGAAACCATACCATGGACCTTCCCCAAAGTGGACCCAAAGAGAGGACCCCACTGTTCTGTAGGGAGGCCTCACAGTGAATGATCAACCCTTCCCCTCCTCCCTCCTGCAGCCAGTCATTCACTCACAGGATTCTCACCTCAATCTTTGAGGCTGCAGGCAGGCACCCATCTCCCCATTTCACAGGCAGGGAAACTGAGGTCCAGAGAGAGGGAGAGATTCCTCCAAGTCATCAGGCACATACAAGGTCCTGCCTGGGATGATCTTTCTGTGGGACTTCTTCTGTCCCTGGTGACCAGGTGTCCCTGTTGGCTGTGGATGAGATGCACCAGGACCTGCCTCGGATGGAGCCGGACATGTACTGGAATAAGCCCGAGCCACAGCCCCCCTACACAGCTGCTTCCGCCCAGTTCCGTCGAGCCTCCTTTATGGGCTCCACCTTCAACATCAGGTGTGGCCAGAGCCAGGGGGCTGGGTGGGAAGCCCCTCCTAGTGCAGGGGTCTGCCTAGGAACTTAGAATAGCACTAGTTAATGCATACAGGTTGCTTCAGTAAGTGTCAGGCACTGTACTATGCTCTTTATAAACATTAACTATTTTTTTCCTCCCAATAATTCTGGTTTGTTATCCCAAGTTTTCAGATAATTAAA
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Task1_train_15933
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A change on Chromosome 11 affects gene BEST1 (bestrophin 1). Identify whether the variant is neutral or disease-linked. Mention the disease if applicable.
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Pathogenic; Autosomal dominant vitreoretinochoroidopathy
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CAGGAGCCCACCCTCCGAGAGTAGGAGTCTGAGGCAGGGCTAAGGACCCTTGAGGGATAATGGAAAGAAGGGTGACGGCTTGGGAACTGGTGAGGTACTAGGGTCTACTTCCCTCTGCCCTTGCCCCTCTTGATCTCCGGTTTCCACTCTGGAGGTATGGGACATTGGTCTCTGACACCCCCTCAGCCTGGCCTGACCTGGTCCTGGTTAATAAGACAGACCCAGGCTAGGCGTGGTGGCTGTCGCCTGTAATCCCAGTGCTTTAGGAGGCAAAGGTGGGAAGATCGCTTGAGCCCAGCTGTTTGAGACGCCCCTGAGCAACATAGCGAGACCCCCATCTCTACAAAAACATTAAAAATTAGCAGGGCATGGTGGCGTGTGCCTGCAGTCTGAGGCTGAGTATCGGGAGGCTGAGGCAGGAGGATCACTTGAGCCCAGCAGTTCCAGGCTGCAGTGCGCTAAGATCGCACCGCTGCACTCCAACCTCGGTGACAGAGCCAGACCCTTTCTCTGGAAATAAATAAATACCCTGCCCACATGCTCAGCCCAGAACAGCACCTAGTAGGTGCTCAGAAATTTTTTTGTTGTTGAAAGAAAGAGGATGGCAAAGGAGTGCTGAGGTTCCTATAGGTCAGCAGGTGCCGGCCATCCCTTCTGCAGGTTCTCCCACCCACCGCCTTCTTCACTCCACTCTGCAGGCTTTATGACTCCGGCAGAACACAAGCAGTTGGAGAAACTGAGCCTACCACACAACATGTTCTGGGTGCCCTGGGTGTGGTTTGCCAACCTGTCAATGAAGGCGTGGCTTGGAGGTCGAATCCGGGACCCTATCCTGCTCCAGAGCCTGCTGAACGTGAGCCCACTGTACAGACAGGGCTGCCGCAGAGTGGGAAGGGCTGTGGTCCACAGGAAACAAGGTTTCCTACAAAGAGAAGCCTTGGGCCCCTGAGGGTCTTCCGAGAGCCTGAGGTGGGGTTGCAGAATCTTTTCCAACAGCAATCCACAGCCCGAGGTGGTCCCTTCTCAGAGGCCCCTCCCTCTTCTCCAAGTCTGTGAGGTCCTGGTTCCCTTTTGATAGATGAGGAAGCTGAGACACAAAGAGGTTTAGTGAGCTTCCCATGGCCACACAGCCAGGAATGGACCATAGGTACCAGGCCCTGGTACCTGGAGAAGAGGTGGGGGCGAGCCCAGGGTGGGGGCAGGTGGTGTTCAGAACCCCATCCCCCTCTTCTGCCCCCCAGGAGATGAACACCTTGCGTACTCAGTGTGGACACCTGTATGCCTACGACTGGATTAGTATCCCACTGGTGTATACACAGGTGAGGACTAGGCTGGTGAGGCTGCCCTTTTGGGAAACTGAGGCTAGAAGGACCAAGGAAGCAGCTGGGGTGGGAAGGGCTCACCTAGAGGCTAAGTGGCTCCCCTGGGAGTTGGGTCCACACTTTGAAGTTGGGTCTGGACTTTGAAGTGCCAAGTTCTAAGAGTCCAGGCTCCTGCCTGGCCCAGTCCAGTAGAGGCAATGTGATTATCCCCATATTAAAGAGAGGTTGGCCGGGTGCAGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAAGCTGAGGCAGGTGGATCACCTGAGGTCAGGAGTTCGAGACCAGCCTGGCCAACATGGTGAAACCCCATCTCTACTGAAAATACAGAATTAGCTGTGTGGTGGTGCACGCCTGTAATCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATCGCTTGAACCCGGGAGGTGGAGGTTGCAGTGAGCTGAGATCATGCCACTGCACTCCAGCCTGGGCGACACAGCAAGACTCTGTCTCAAACAAACAAACAAACAAACAAACAAAGGGGTTAACAGAGCCCCTAAGTCACATAAGTGTGCAAGTCAGAACAAGGCCTTGGTCTCCTGTCTCAGACTCCCAGCCCCTGGAGCATCCTGATTTCAGGGTTCCCACCTAGCCCTTTGCTACCACATCCTCCTCCTCCTCCCAGGTGGTGACTGTGGCGGTGTACAGCTTCTTCCTGACTTGTCTAGTTGGGCGGCAGTTTCTGAACCCAGCCAAGGCCTACCCTGGCCATGAGCTGGACCTCGTTGTGCCCGTCTTCACGTTCCTGCAGTTCTTCTTCTATGTTGGCTGGCTGAAGGTGGGCCTCTCCAGGGCCCTGCTGGGCTGGAGGCATGGCCAGAGGGGTCATGGCCAGCAGCTGCCTGAGACGAGGATGCAGTGTCAGGAAAGGAAGGTCTCACGGGTAGAAAGCAGCCAGGCGTGGTGGCGCACACCTGTAATCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATCGCTTGAACCCGGGAGGCGGAGGTTGTGGTGAGTTGAGATCGTGCCACTGCACTCCAGCCTGGGCAAAAGAATGAAACTCTATCTCAAAAACAACAACAACAACAAAACAAAGCCCTAAGGTTCAGAAGCCCCTGCCCTTTAGAAGGCAGATCGGCACCACCTCTCCTTATTCAAGATGCCTGTTGGGCTGTCTTGTTCCTCACCTCAAGTGGCTTGTCCAGGTATTCCCTCCCACCACAGCCAATACTCCGAACAGATGTTCTGAATCACACAGTTTTCTCTCCACCTCTTTATCTTTCCTTCCTTCTGTTGCCCACCCACTCTCTCTCCCTTCCTACCTTCCTTTATTTTTTGGTAATGGGGGTGTAAGTCTCTGTCTCTGCCCTTCCTGTCACTGTGACACACACACACACACACACACACACACACACATACACACACACACACACGCATTCCTATTCCTCTAAATTCCCCCTGCCCCCCCAGTTATCTTTGGTTTCTGCAGATCAAAACAAATCACACTTTTATGCTTGAAATTCTCCGGGGTGCCCCAGTGGCCTGCAAGATGTCCCCTGGACCCCTAAGGCAGACGCGTGTCACCTCTTCGGGGCTTTGTTAGGGCATTTTAGAGGTTGCTATCCAGGAATCTGCCCACCTAGACTGCCCTTTAGTTCAGCCCAGCTTCAGTATATATCTCTGTTGCATGAATGAATAAAATTATGCAACTCCAGGTAAGATACATGAGGTGAGATAAAGGCAGTGACTCAGCCGAGTGATACACTCAGGGACAGCTGTGGGTGTTCAGGGAAGGACTGGCTCAGAAGAGTTAGAGGGGCTGTGTCCAGAAGTGTGTGGGTGCCCACAAGTGTGGGGGGCTGGAGCCCTAAACTCTGCCTTTGAAGACAGTGGTCAGGCAGGAAGGGCGTCATGGGGTGTGGAAATAGCAGCAGCTGAGGTTTAAAGGGGGAAGCTGGCTTTGAGGAGTTCTGCCTGAGGGTTTACAGAGCCTCACCTGTCCCCAAGGTGGCAGAGCAGCTCATCAACCCCTTTGGAGAGGATGATGATGATTTTGAGACCAACTGGATTGTCGACAGGAATTTGCAGGTATGGGGAGAGGGAGAGAAACCATACCATGGACCTTCCCCAAAGTGGACCCAAAGAGAGGACCCCACTGTTCTGTAGGGAGGCCTCACAGTGAATGATCAACCCTTCCCCTCCTCCCTCCTGCAGCCAGTCATTCACTCACAGGATTCTCACCTCAATCTTTGAGGCTGCAGGCAGGCACCCATCTCCCCATTTCACAGGCAGGGAAACTGAGGTCCAGAGAGAGGGAGAGATTCCTCCAAGTCATCAGGCACATACAAGGTCCTGCCTGGGATGATCTTTCTGTGGGACTTCTTCTGTCCCTGGTGACCAGGTGTCCCTGTTGGCTGTGGATGAGATGCACCAGGACCTGCCTCGGATGGAGCCGGACATGTACTGGAATAAGCCCGAGCCACAGCCCCCCTACACAGCTGCTTCCGCCCAGTTCCGTCGAGCCTCCTTTATGGGCTCCACCTTCAACATCAGGTGTGGCCAGAGCCAGGGGGCTGGGTGGGAAGCCCCTCCTAGTGCAGGGGTCTGCCTAGGAACTTAGAATAGCACTAGTTAATGCATACAGGTTGCTTCAGTAAGTGTCAGGCACTGTACTATGCTCTTTATAAACATTAACTATTTTTTTCCTCCCAATAATTCTGGTTTGTTATCCCAAGTTTTCAGATAATTAAA
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CAGGAGCCCACCCTCCGAGAGTAGGAGTCTGAGGCAGGGCTAAGGACCCTTGAGGGATAATGGAAAGAAGGGTGACGGCTTGGGAACTGGTGAGGTACTAGGGTCTACTTCCCTCTGCCCTTGCCCCTCTTGATCTCCGGTTTCCACTCTGGAGGTATGGGACATTGGTCTCTGACACCCCCTCAGCCTGGCCTGACCTGGTCCTGGTTAATAAGACAGACCCAGGCTAGGCGTGGTGGCTGTCGCCTGTAATCCCAGTGCTTTAGGAGGCAAAGGTGGGAAGATCGCTTGAGCCCAGCTGTTTGAGACGCCCCTGAGCAACATAGCGAGACCCCCATCTCTACAAAAACATTAAAAATTAGCAGGGCATGGTGGCGTGTGCCTGCAGTCTGAGGCTGAGTATCGGGAGGCTGAGGCAGGAGGATCACTTGAGCCCAGCAGTTCCAGGCTGCAGTGCGCTAAGATCGCACCGCTGCACTCCAACCTCGGTGACAGAGCCAGACCCTTTCTCTGGAAATAAATAAATACCCTGCCCACATGCTCAGCCCAGAACAGCACCTAGTAGGTGCTCAGAAATTTTTTTGTTGTTGAAAGAAAGAGGATGGCAAAGGAGTGCTGAGGTTCCTATAGGTCAGCAGGTGCCGGCCATCCCTTCTGCAGGTTCTCCCACCCACCGCCTTCTTCACTCCACTCTGCAGGCTTTATGACTCCGGCAGAACACAAGCAGTTGGAGAAACTGAGCCTACCACACAACATGTTCTGGGTGCCCTGGGTGTGGTTTGCCAACCTGTCAATGAAGGCGTGGCTTGGAGGTCGAATCCGGGACCCTATCCTGCTCCAGAGCCTGCTGAACGTGAGCCCACTGTACAGACAGGGCTGCCGCAGAGTGGGAAGGGCTGTGGTCCACAGGAAACAAGGTTTCCTACAAAGAGAAGCCTTGGGCCCCTGAGGGTCTTCCGAGAGCCTGAGGTGGGGTTGCAGAATCTTTTCCAACAGCAATCCACAGCCCGAGGTGGTCCCTTCTCAGAGGCCCCTCCCTCTTCTCCAAGTCTGTGAGGTCCTGGTTCCCTTTTGATAGATGAGGAAGCTGAGACACAAAGAGGTTTAGTGAGCTTCCCATGGCCACACAGCCAGGAATGGACCATAGGTACCAGGCCCTGGTACCTGGAGAAGAGGTGGGGGCGAGCCCAGGGTGGGGGCAGGTGGTGTTCAGAACCCCATCCCCCTCTTCTGCCCCCCAGGAGATGAACACCTTGCGTACTCAGTGTGGACACCTGTATGCCTACGACTGGATTAGTATCCCACTGGTGTATACACAGGTGAGGACTAGGCTGGTGAGGCTGCCCTTTTGGGAAACTGAGGCTAGAAGGACCAAGGAAGCAGCTGGGGTGGGAAGGGCTCACCTAGAGGCTAAGTGGCTCCCCTGGGAGTTGGGTCCACACTTTGAAGTTGGGTCTGGACTTTGAAGTGCCAAGTTCTAAGAGTCCAGGCTCCTGCCTGGCCCAGTCCAGTAGAGGCAATGTGATTATCCCCATATTAAAGAGAGGTTGGCCGGGTGCAGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAAGCTGAGGCAGGTGGATCACCTGAGGTCAGGAGTTCGAGACCAGCCTGGCCAACATGGTGAAACCCCATCTCTACTGAAAATACAGAATTAGCTGTGTGGTGGTGCACGCCTGTAATCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATCGCTTGAACCCGGGAGGTGGAGGTTGCAGTGAGCTGAGATCATGCCACTGCACTCCAGCCTGGGCGACACAGCAAGACTCTGTCTCAAACAAACAAACAAACAAACAAACAAAGGGGTTAACAGAGCCCCTAAGTCACATAAGTGTGCAAGTCAGAACAAGGCCTTGGTCTCCTGTCTCAGACTCCCAGCCCCTGGAGCATCCTGATTTCAGGGTTCCCACCTAGCCCTTTGCTACCACATCCTCCTCCTCCTCCCAGGTGGTGACTGTGGCGGTGTACAGCTTCTTCCTGACTTGTCTAGTTGGGTGGCAGTTTCTGAACCCAGCCAAGGCCTACCCTGGCCATGAGCTGGACCTCGTTGTGCCCGTCTTCACGTTCCTGCAGTTCTTCTTCTATGTTGGCTGGCTGAAGGTGGGCCTCTCCAGGGCCCTGCTGGGCTGGAGGCATGGCCAGAGGGGTCATGGCCAGCAGCTGCCTGAGACGAGGATGCAGTGTCAGGAAAGGAAGGTCTCACGGGTAGAAAGCAGCCAGGCGTGGTGGCGCACACCTGTAATCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATCGCTTGAACCCGGGAGGCGGAGGTTGTGGTGAGTTGAGATCGTGCCACTGCACTCCAGCCTGGGCAAAAGAATGAAACTCTATCTCAAAAACAACAACAACAACAAAACAAAGCCCTAAGGTTCAGAAGCCCCTGCCCTTTAGAAGGCAGATCGGCACCACCTCTCCTTATTCAAGATGCCTGTTGGGCTGTCTTGTTCCTCACCTCAAGTGGCTTGTCCAGGTATTCCCTCCCACCACAGCCAATACTCCGAACAGATGTTCTGAATCACACAGTTTTCTCTCCACCTCTTTATCTTTCCTTCCTTCTGTTGCCCACCCACTCTCTCTCCCTTCCTACCTTCCTTTATTTTTTGGTAATGGGGGTGTAAGTCTCTGTCTCTGCCCTTCCTGTCACTGTGACACACACACACACACACACACACACACACACATACACACACACACACACGCATTCCTATTCCTCTAAATTCCCCCTGCCCCCCCAGTTATCTTTGGTTTCTGCAGATCAAAACAAATCACACTTTTATGCTTGAAATTCTCCGGGGTGCCCCAGTGGCCTGCAAGATGTCCCCTGGACCCCTAAGGCAGACGCGTGTCACCTCTTCGGGGCTTTGTTAGGGCATTTTAGAGGTTGCTATCCAGGAATCTGCCCACCTAGACTGCCCTTTAGTTCAGCCCAGCTTCAGTATATATCTCTGTTGCATGAATGAATAAAATTATGCAACTCCAGGTAAGATACATGAGGTGAGATAAAGGCAGTGACTCAGCCGAGTGATACACTCAGGGACAGCTGTGGGTGTTCAGGGAAGGACTGGCTCAGAAGAGTTAGAGGGGCTGTGTCCAGAAGTGTGTGGGTGCCCACAAGTGTGGGGGGCTGGAGCCCTAAACTCTGCCTTTGAAGACAGTGGTCAGGCAGGAAGGGCGTCATGGGGTGTGGAAATAGCAGCAGCTGAGGTTTAAAGGGGGAAGCTGGCTTTGAGGAGTTCTGCCTGAGGGTTTACAGAGCCTCACCTGTCCCCAAGGTGGCAGAGCAGCTCATCAACCCCTTTGGAGAGGATGATGATGATTTTGAGACCAACTGGATTGTCGACAGGAATTTGCAGGTATGGGGAGAGGGAGAGAAACCATACCATGGACCTTCCCCAAAGTGGACCCAAAGAGAGGACCCCACTGTTCTGTAGGGAGGCCTCACAGTGAATGATCAACCCTTCCCCTCCTCCCTCCTGCAGCCAGTCATTCACTCACAGGATTCTCACCTCAATCTTTGAGGCTGCAGGCAGGCACCCATCTCCCCATTTCACAGGCAGGGAAACTGAGGTCCAGAGAGAGGGAGAGATTCCTCCAAGTCATCAGGCACATACAAGGTCCTGCCTGGGATGATCTTTCTGTGGGACTTCTTCTGTCCCTGGTGACCAGGTGTCCCTGTTGGCTGTGGATGAGATGCACCAGGACCTGCCTCGGATGGAGCCGGACATGTACTGGAATAAGCCCGAGCCACAGCCCCCCTACACAGCTGCTTCCGCCCAGTTCCGTCGAGCCTCCTTTATGGGCTCCACCTTCAACATCAGGTGTGGCCAGAGCCAGGGGGCTGGGTGGGAAGCCCCTCCTAGTGCAGGGGTCTGCCTAGGAACTTAGAATAGCACTAGTTAATGCATACAGGTTGCTTCAGTAAGTGTCAGGCACTGTACTATGCTCTTTATAAACATTAACTATTTTTTTCCTCCCAATAATTCTGGTTTGTTATCCCAAGTTTTCAGATAATTAAA
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Task1_train_15934
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An alteration has been detected in BEST1 (bestrophin 1) on Chromosome 11. Is it pathogenic, and if so, what disease is involved?
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Pathogenic; not provided
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AATGGAAAGAAGGGTGACGGCTTGGGAACTGGTGAGGTACTAGGGTCTACTTCCCTCTGCCCTTGCCCCTCTTGATCTCCGGTTTCCACTCTGGAGGTATGGGACATTGGTCTCTGACACCCCCTCAGCCTGGCCTGACCTGGTCCTGGTTAATAAGACAGACCCAGGCTAGGCGTGGTGGCTGTCGCCTGTAATCCCAGTGCTTTAGGAGGCAAAGGTGGGAAGATCGCTTGAGCCCAGCTGTTTGAGACGCCCCTGAGCAACATAGCGAGACCCCCATCTCTACAAAAACATTAAAAATTAGCAGGGCATGGTGGCGTGTGCCTGCAGTCTGAGGCTGAGTATCGGGAGGCTGAGGCAGGAGGATCACTTGAGCCCAGCAGTTCCAGGCTGCAGTGCGCTAAGATCGCACCGCTGCACTCCAACCTCGGTGACAGAGCCAGACCCTTTCTCTGGAAATAAATAAATACCCTGCCCACATGCTCAGCCCAGAACAGCACCTAGTAGGTGCTCAGAAATTTTTTTGTTGTTGAAAGAAAGAGGATGGCAAAGGAGTGCTGAGGTTCCTATAGGTCAGCAGGTGCCGGCCATCCCTTCTGCAGGTTCTCCCACCCACCGCCTTCTTCACTCCACTCTGCAGGCTTTATGACTCCGGCAGAACACAAGCAGTTGGAGAAACTGAGCCTACCACACAACATGTTCTGGGTGCCCTGGGTGTGGTTTGCCAACCTGTCAATGAAGGCGTGGCTTGGAGGTCGAATCCGGGACCCTATCCTGCTCCAGAGCCTGCTGAACGTGAGCCCACTGTACAGACAGGGCTGCCGCAGAGTGGGAAGGGCTGTGGTCCACAGGAAACAAGGTTTCCTACAAAGAGAAGCCTTGGGCCCCTGAGGGTCTTCCGAGAGCCTGAGGTGGGGTTGCAGAATCTTTTCCAACAGCAATCCACAGCCCGAGGTGGTCCCTTCTCAGAGGCCCCTCCCTCTTCTCCAAGTCTGTGAGGTCCTGGTTCCCTTTTGATAGATGAGGAAGCTGAGACACAAAGAGGTTTAGTGAGCTTCCCATGGCCACACAGCCAGGAATGGACCATAGGTACCAGGCCCTGGTACCTGGAGAAGAGGTGGGGGCGAGCCCAGGGTGGGGGCAGGTGGTGTTCAGAACCCCATCCCCCTCTTCTGCCCCCCAGGAGATGAACACCTTGCGTACTCAGTGTGGACACCTGTATGCCTACGACTGGATTAGTATCCCACTGGTGTATACACAGGTGAGGACTAGGCTGGTGAGGCTGCCCTTTTGGGAAACTGAGGCTAGAAGGACCAAGGAAGCAGCTGGGGTGGGAAGGGCTCACCTAGAGGCTAAGTGGCTCCCCTGGGAGTTGGGTCCACACTTTGAAGTTGGGTCTGGACTTTGAAGTGCCAAGTTCTAAGAGTCCAGGCTCCTGCCTGGCCCAGTCCAGTAGAGGCAATGTGATTATCCCCATATTAAAGAGAGGTTGGCCGGGTGCAGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAAGCTGAGGCAGGTGGATCACCTGAGGTCAGGAGTTCGAGACCAGCCTGGCCAACATGGTGAAACCCCATCTCTACTGAAAATACAGAATTAGCTGTGTGGTGGTGCACGCCTGTAATCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATCGCTTGAACCCGGGAGGTGGAGGTTGCAGTGAGCTGAGATCATGCCACTGCACTCCAGCCTGGGCGACACAGCAAGACTCTGTCTCAAACAAACAAACAAACAAACAAACAAAGGGGTTAACAGAGCCCCTAAGTCACATAAGTGTGCAAGTCAGAACAAGGCCTTGGTCTCCTGTCTCAGACTCCCAGCCCCTGGAGCATCCTGATTTCAGGGTTCCCACCTAGCCCTTTGCTACCACATCCTCCTCCTCCTCCCAGGTGGTGACTGTGGCGGTGTACAGCTTCTTCCTGACTTGTCTAGTTGGGCGGCAGTTTCTGAACCCAGCCAAGGCCTACCCTGGCCATGAGCTGGACCTCGTTGTGCCCGTCTTCACGTTCCTGCAGTTCTTCTTCTATGTTGGCTGGCTGAAGGTGGGCCTCTCCAGGGCCCTGCTGGGCTGGAGGCATGGCCAGAGGGGTCATGGCCAGCAGCTGCCTGAGACGAGGATGCAGTGTCAGGAAAGGAAGGTCTCACGGGTAGAAAGCAGCCAGGCGTGGTGGCGCACACCTGTAATCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATCGCTTGAACCCGGGAGGCGGAGGTTGTGGTGAGTTGAGATCGTGCCACTGCACTCCAGCCTGGGCAAAAGAATGAAACTCTATCTCAAAAACAACAACAACAACAAAACAAAGCCCTAAGGTTCAGAAGCCCCTGCCCTTTAGAAGGCAGATCGGCACCACCTCTCCTTATTCAAGATGCCTGTTGGGCTGTCTTGTTCCTCACCTCAAGTGGCTTGTCCAGGTATTCCCTCCCACCACAGCCAATACTCCGAACAGATGTTCTGAATCACACAGTTTTCTCTCCACCTCTTTATCTTTCCTTCCTTCTGTTGCCCACCCACTCTCTCTCCCTTCCTACCTTCCTTTATTTTTTGGTAATGGGGGTGTAAGTCTCTGTCTCTGCCCTTCCTGTCACTGTGACACACACACACACACACACACACACACACACATACACACACACACACACGCATTCCTATTCCTCTAAATTCCCCCTGCCCCCCCAGTTATCTTTGGTTTCTGCAGATCAAAACAAATCACACTTTTATGCTTGAAATTCTCCGGGGTGCCCCAGTGGCCTGCAAGATGTCCCCTGGACCCCTAAGGCAGACGCGTGTCACCTCTTCGGGGCTTTGTTAGGGCATTTTAGAGGTTGCTATCCAGGAATCTGCCCACCTAGACTGCCCTTTAGTTCAGCCCAGCTTCAGTATATATCTCTGTTGCATGAATGAATAAAATTATGCAACTCCAGGTAAGATACATGAGGTGAGATAAAGGCAGTGACTCAGCCGAGTGATACACTCAGGGACAGCTGTGGGTGTTCAGGGAAGGACTGGCTCAGAAGAGTTAGAGGGGCTGTGTCCAGAAGTGTGTGGGTGCCCACAAGTGTGGGGGGCTGGAGCCCTAAACTCTGCCTTTGAAGACAGTGGTCAGGCAGGAAGGGCGTCATGGGGTGTGGAAATAGCAGCAGCTGAGGTTTAAAGGGGGAAGCTGGCTTTGAGGAGTTCTGCCTGAGGGTTTACAGAGCCTCACCTGTCCCCAAGGTGGCAGAGCAGCTCATCAACCCCTTTGGAGAGGATGATGATGATTTTGAGACCAACTGGATTGTCGACAGGAATTTGCAGGTATGGGGAGAGGGAGAGAAACCATACCATGGACCTTCCCCAAAGTGGACCCAAAGAGAGGACCCCACTGTTCTGTAGGGAGGCCTCACAGTGAATGATCAACCCTTCCCCTCCTCCCTCCTGCAGCCAGTCATTCACTCACAGGATTCTCACCTCAATCTTTGAGGCTGCAGGCAGGCACCCATCTCCCCATTTCACAGGCAGGGAAACTGAGGTCCAGAGAGAGGGAGAGATTCCTCCAAGTCATCAGGCACATACAAGGTCCTGCCTGGGATGATCTTTCTGTGGGACTTCTTCTGTCCCTGGTGACCAGGTGTCCCTGTTGGCTGTGGATGAGATGCACCAGGACCTGCCTCGGATGGAGCCGGACATGTACTGGAATAAGCCCGAGCCACAGCCCCCCTACACAGCTGCTTCCGCCCAGTTCCGTCGAGCCTCCTTTATGGGCTCCACCTTCAACATCAGGTGTGGCCAGAGCCAGGGGGCTGGGTGGGAAGCCCCTCCTAGTGCAGGGGTCTGCCTAGGAACTTAGAATAGCACTAGTTAATGCATACAGGTTGCTTCAGTAAGTGTCAGGCACTGTACTATGCTCTTTATAAACATTAACTATTTTTTTCCTCCCAATAATTCTGGTTTGTTATCCCAAGTTTTCAGATAATTAAAGTACAGGTTCAGAGAGAGTAAGTTGTCCAAGGCCACATAGCTACCAAATGGTGCATTT
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AATGGAAAGAAGGGTGACGGCTTGGGAACTGGTGAGGTACTAGGGTCTACTTCCCTCTGCCCTTGCCCCTCTTGATCTCCGGTTTCCACTCTGGAGGTATGGGACATTGGTCTCTGACACCCCCTCAGCCTGGCCTGACCTGGTCCTGGTTAATAAGACAGACCCAGGCTAGGCGTGGTGGCTGTCGCCTGTAATCCCAGTGCTTTAGGAGGCAAAGGTGGGAAGATCGCTTGAGCCCAGCTGTTTGAGACGCCCCTGAGCAACATAGCGAGACCCCCATCTCTACAAAAACATTAAAAATTAGCAGGGCATGGTGGCGTGTGCCTGCAGTCTGAGGCTGAGTATCGGGAGGCTGAGGCAGGAGGATCACTTGAGCCCAGCAGTTCCAGGCTGCAGTGCGCTAAGATCGCACCGCTGCACTCCAACCTCGGTGACAGAGCCAGACCCTTTCTCTGGAAATAAATAAATACCCTGCCCACATGCTCAGCCCAGAACAGCACCTAGTAGGTGCTCAGAAATTTTTTTGTTGTTGAAAGAAAGAGGATGGCAAAGGAGTGCTGAGGTTCCTATAGGTCAGCAGGTGCCGGCCATCCCTTCTGCAGGTTCTCCCACCCACCGCCTTCTTCACTCCACTCTGCAGGCTTTATGACTCCGGCAGAACACAAGCAGTTGGAGAAACTGAGCCTACCACACAACATGTTCTGGGTGCCCTGGGTGTGGTTTGCCAACCTGTCAATGAAGGCGTGGCTTGGAGGTCGAATCCGGGACCCTATCCTGCTCCAGAGCCTGCTGAACGTGAGCCCACTGTACAGACAGGGCTGCCGCAGAGTGGGAAGGGCTGTGGTCCACAGGAAACAAGGTTTCCTACAAAGAGAAGCCTTGGGCCCCTGAGGGTCTTCCGAGAGCCTGAGGTGGGGTTGCAGAATCTTTTCCAACAGCAATCCACAGCCCGAGGTGGTCCCTTCTCAGAGGCCCCTCCCTCTTCTCCAAGTCTGTGAGGTCCTGGTTCCCTTTTGATAGATGAGGAAGCTGAGACACAAAGAGGTTTAGTGAGCTTCCCATGGCCACACAGCCAGGAATGGACCATAGGTACCAGGCCCTGGTACCTGGAGAAGAGGTGGGGGCGAGCCCAGGGTGGGGGCAGGTGGTGTTCAGAACCCCATCCCCCTCTTCTGCCCCCCAGGAGATGAACACCTTGCGTACTCAGTGTGGACACCTGTATGCCTACGACTGGATTAGTATCCCACTGGTGTATACACAGGTGAGGACTAGGCTGGTGAGGCTGCCCTTTTGGGAAACTGAGGCTAGAAGGACCAAGGAAGCAGCTGGGGTGGGAAGGGCTCACCTAGAGGCTAAGTGGCTCCCCTGGGAGTTGGGTCCACACTTTGAAGTTGGGTCTGGACTTTGAAGTGCCAAGTTCTAAGAGTCCAGGCTCCTGCCTGGCCCAGTCCAGTAGAGGCAATGTGATTATCCCCATATTAAAGAGAGGTTGGCCGGGTGCAGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAAGCTGAGGCAGGTGGATCACCTGAGGTCAGGAGTTCGAGACCAGCCTGGCCAACATGGTGAAACCCCATCTCTACTGAAAATACAGAATTAGCTGTGTGGTGGTGCACGCCTGTAATCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATCGCTTGAACCCGGGAGGTGGAGGTTGCAGTGAGCTGAGATCATGCCACTGCACTCCAGCCTGGGCGACACAGCAAGACTCTGTCTCAAACAAACAAACAAACAAACAAACAAAGGGGTTAACAGAGCCCCTAAGTCACATAAGTGTGCAAGTCAGAACAAGGCCTTGGTCTCCTGTCTCAGACTCCCAGCCCCTGGAGCATCCTGATTTCAGGGTTCCCACCTAGCCCTTTGCTACCACATCCTCCTCCTCCTCCCAGGTGGTGACTGTGGCGGTGTACAGCTTCTTCCTGACTTGTCTAGTTGGGCGGCAGTTTCTGAACCCAGCCAAGGCCTACCCTGGCCATGAGCTGGACCTCGTTGTGCGCGTCTTCACGTTCCTGCAGTTCTTCTTCTATGTTGGCTGGCTGAAGGTGGGCCTCTCCAGGGCCCTGCTGGGCTGGAGGCATGGCCAGAGGGGTCATGGCCAGCAGCTGCCTGAGACGAGGATGCAGTGTCAGGAAAGGAAGGTCTCACGGGTAGAAAGCAGCCAGGCGTGGTGGCGCACACCTGTAATCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATCGCTTGAACCCGGGAGGCGGAGGTTGTGGTGAGTTGAGATCGTGCCACTGCACTCCAGCCTGGGCAAAAGAATGAAACTCTATCTCAAAAACAACAACAACAACAAAACAAAGCCCTAAGGTTCAGAAGCCCCTGCCCTTTAGAAGGCAGATCGGCACCACCTCTCCTTATTCAAGATGCCTGTTGGGCTGTCTTGTTCCTCACCTCAAGTGGCTTGTCCAGGTATTCCCTCCCACCACAGCCAATACTCCGAACAGATGTTCTGAATCACACAGTTTTCTCTCCACCTCTTTATCTTTCCTTCCTTCTGTTGCCCACCCACTCTCTCTCCCTTCCTACCTTCCTTTATTTTTTGGTAATGGGGGTGTAAGTCTCTGTCTCTGCCCTTCCTGTCACTGTGACACACACACACACACACACACACACACACACATACACACACACACACACGCATTCCTATTCCTCTAAATTCCCCCTGCCCCCCCAGTTATCTTTGGTTTCTGCAGATCAAAACAAATCACACTTTTATGCTTGAAATTCTCCGGGGTGCCCCAGTGGCCTGCAAGATGTCCCCTGGACCCCTAAGGCAGACGCGTGTCACCTCTTCGGGGCTTTGTTAGGGCATTTTAGAGGTTGCTATCCAGGAATCTGCCCACCTAGACTGCCCTTTAGTTCAGCCCAGCTTCAGTATATATCTCTGTTGCATGAATGAATAAAATTATGCAACTCCAGGTAAGATACATGAGGTGAGATAAAGGCAGTGACTCAGCCGAGTGATACACTCAGGGACAGCTGTGGGTGTTCAGGGAAGGACTGGCTCAGAAGAGTTAGAGGGGCTGTGTCCAGAAGTGTGTGGGTGCCCACAAGTGTGGGGGGCTGGAGCCCTAAACTCTGCCTTTGAAGACAGTGGTCAGGCAGGAAGGGCGTCATGGGGTGTGGAAATAGCAGCAGCTGAGGTTTAAAGGGGGAAGCTGGCTTTGAGGAGTTCTGCCTGAGGGTTTACAGAGCCTCACCTGTCCCCAAGGTGGCAGAGCAGCTCATCAACCCCTTTGGAGAGGATGATGATGATTTTGAGACCAACTGGATTGTCGACAGGAATTTGCAGGTATGGGGAGAGGGAGAGAAACCATACCATGGACCTTCCCCAAAGTGGACCCAAAGAGAGGACCCCACTGTTCTGTAGGGAGGCCTCACAGTGAATGATCAACCCTTCCCCTCCTCCCTCCTGCAGCCAGTCATTCACTCACAGGATTCTCACCTCAATCTTTGAGGCTGCAGGCAGGCACCCATCTCCCCATTTCACAGGCAGGGAAACTGAGGTCCAGAGAGAGGGAGAGATTCCTCCAAGTCATCAGGCACATACAAGGTCCTGCCTGGGATGATCTTTCTGTGGGACTTCTTCTGTCCCTGGTGACCAGGTGTCCCTGTTGGCTGTGGATGAGATGCACCAGGACCTGCCTCGGATGGAGCCGGACATGTACTGGAATAAGCCCGAGCCACAGCCCCCCTACACAGCTGCTTCCGCCCAGTTCCGTCGAGCCTCCTTTATGGGCTCCACCTTCAACATCAGGTGTGGCCAGAGCCAGGGGGCTGGGTGGGAAGCCCCTCCTAGTGCAGGGGTCTGCCTAGGAACTTAGAATAGCACTAGTTAATGCATACAGGTTGCTTCAGTAAGTGTCAGGCACTGTACTATGCTCTTTATAAACATTAACTATTTTTTTCCTCCCAATAATTCTGGTTTGTTATCCCAAGTTTTCAGATAATTAAAGTACAGGTTCAGAGAGAGTAAGTTGTCCAAGGCCACATAGCTACCAAATGGTGCATTT
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Task1_train_15935
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Located on Chromosome 11, this mutation impacts BEST1 (bestrophin 1). What is its biological consequence — is it benign or pathogenic, and which disease is associated if any?
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Pathogenic; Retinal dystrophy
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AAGGGTGACGGCTTGGGAACTGGTGAGGTACTAGGGTCTACTTCCCTCTGCCCTTGCCCCTCTTGATCTCCGGTTTCCACTCTGGAGGTATGGGACATTGGTCTCTGACACCCCCTCAGCCTGGCCTGACCTGGTCCTGGTTAATAAGACAGACCCAGGCTAGGCGTGGTGGCTGTCGCCTGTAATCCCAGTGCTTTAGGAGGCAAAGGTGGGAAGATCGCTTGAGCCCAGCTGTTTGAGACGCCCCTGAGCAACATAGCGAGACCCCCATCTCTACAAAAACATTAAAAATTAGCAGGGCATGGTGGCGTGTGCCTGCAGTCTGAGGCTGAGTATCGGGAGGCTGAGGCAGGAGGATCACTTGAGCCCAGCAGTTCCAGGCTGCAGTGCGCTAAGATCGCACCGCTGCACTCCAACCTCGGTGACAGAGCCAGACCCTTTCTCTGGAAATAAATAAATACCCTGCCCACATGCTCAGCCCAGAACAGCACCTAGTAGGTGCTCAGAAATTTTTTTGTTGTTGAAAGAAAGAGGATGGCAAAGGAGTGCTGAGGTTCCTATAGGTCAGCAGGTGCCGGCCATCCCTTCTGCAGGTTCTCCCACCCACCGCCTTCTTCACTCCACTCTGCAGGCTTTATGACTCCGGCAGAACACAAGCAGTTGGAGAAACTGAGCCTACCACACAACATGTTCTGGGTGCCCTGGGTGTGGTTTGCCAACCTGTCAATGAAGGCGTGGCTTGGAGGTCGAATCCGGGACCCTATCCTGCTCCAGAGCCTGCTGAACGTGAGCCCACTGTACAGACAGGGCTGCCGCAGAGTGGGAAGGGCTGTGGTCCACAGGAAACAAGGTTTCCTACAAAGAGAAGCCTTGGGCCCCTGAGGGTCTTCCGAGAGCCTGAGGTGGGGTTGCAGAATCTTTTCCAACAGCAATCCACAGCCCGAGGTGGTCCCTTCTCAGAGGCCCCTCCCTCTTCTCCAAGTCTGTGAGGTCCTGGTTCCCTTTTGATAGATGAGGAAGCTGAGACACAAAGAGGTTTAGTGAGCTTCCCATGGCCACACAGCCAGGAATGGACCATAGGTACCAGGCCCTGGTACCTGGAGAAGAGGTGGGGGCGAGCCCAGGGTGGGGGCAGGTGGTGTTCAGAACCCCATCCCCCTCTTCTGCCCCCCAGGAGATGAACACCTTGCGTACTCAGTGTGGACACCTGTATGCCTACGACTGGATTAGTATCCCACTGGTGTATACACAGGTGAGGACTAGGCTGGTGAGGCTGCCCTTTTGGGAAACTGAGGCTAGAAGGACCAAGGAAGCAGCTGGGGTGGGAAGGGCTCACCTAGAGGCTAAGTGGCTCCCCTGGGAGTTGGGTCCACACTTTGAAGTTGGGTCTGGACTTTGAAGTGCCAAGTTCTAAGAGTCCAGGCTCCTGCCTGGCCCAGTCCAGTAGAGGCAATGTGATTATCCCCATATTAAAGAGAGGTTGGCCGGGTGCAGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAAGCTGAGGCAGGTGGATCACCTGAGGTCAGGAGTTCGAGACCAGCCTGGCCAACATGGTGAAACCCCATCTCTACTGAAAATACAGAATTAGCTGTGTGGTGGTGCACGCCTGTAATCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATCGCTTGAACCCGGGAGGTGGAGGTTGCAGTGAGCTGAGATCATGCCACTGCACTCCAGCCTGGGCGACACAGCAAGACTCTGTCTCAAACAAACAAACAAACAAACAAACAAAGGGGTTAACAGAGCCCCTAAGTCACATAAGTGTGCAAGTCAGAACAAGGCCTTGGTCTCCTGTCTCAGACTCCCAGCCCCTGGAGCATCCTGATTTCAGGGTTCCCACCTAGCCCTTTGCTACCACATCCTCCTCCTCCTCCCAGGTGGTGACTGTGGCGGTGTACAGCTTCTTCCTGACTTGTCTAGTTGGGCGGCAGTTTCTGAACCCAGCCAAGGCCTACCCTGGCCATGAGCTGGACCTCGTTGTGCCCGTCTTCACGTTCCTGCAGTTCTTCTTCTATGTTGGCTGGCTGAAGGTGGGCCTCTCCAGGGCCCTGCTGGGCTGGAGGCATGGCCAGAGGGGTCATGGCCAGCAGCTGCCTGAGACGAGGATGCAGTGTCAGGAAAGGAAGGTCTCACGGGTAGAAAGCAGCCAGGCGTGGTGGCGCACACCTGTAATCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATCGCTTGAACCCGGGAGGCGGAGGTTGTGGTGAGTTGAGATCGTGCCACTGCACTCCAGCCTGGGCAAAAGAATGAAACTCTATCTCAAAAACAACAACAACAACAAAACAAAGCCCTAAGGTTCAGAAGCCCCTGCCCTTTAGAAGGCAGATCGGCACCACCTCTCCTTATTCAAGATGCCTGTTGGGCTGTCTTGTTCCTCACCTCAAGTGGCTTGTCCAGGTATTCCCTCCCACCACAGCCAATACTCCGAACAGATGTTCTGAATCACACAGTTTTCTCTCCACCTCTTTATCTTTCCTTCCTTCTGTTGCCCACCCACTCTCTCTCCCTTCCTACCTTCCTTTATTTTTTGGTAATGGGGGTGTAAGTCTCTGTCTCTGCCCTTCCTGTCACTGTGACACACACACACACACACACACACACACACACATACACACACACACACACGCATTCCTATTCCTCTAAATTCCCCCTGCCCCCCCAGTTATCTTTGGTTTCTGCAGATCAAAACAAATCACACTTTTATGCTTGAAATTCTCCGGGGTGCCCCAGTGGCCTGCAAGATGTCCCCTGGACCCCTAAGGCAGACGCGTGTCACCTCTTCGGGGCTTTGTTAGGGCATTTTAGAGGTTGCTATCCAGGAATCTGCCCACCTAGACTGCCCTTTAGTTCAGCCCAGCTTCAGTATATATCTCTGTTGCATGAATGAATAAAATTATGCAACTCCAGGTAAGATACATGAGGTGAGATAAAGGCAGTGACTCAGCCGAGTGATACACTCAGGGACAGCTGTGGGTGTTCAGGGAAGGACTGGCTCAGAAGAGTTAGAGGGGCTGTGTCCAGAAGTGTGTGGGTGCCCACAAGTGTGGGGGGCTGGAGCCCTAAACTCTGCCTTTGAAGACAGTGGTCAGGCAGGAAGGGCGTCATGGGGTGTGGAAATAGCAGCAGCTGAGGTTTAAAGGGGGAAGCTGGCTTTGAGGAGTTCTGCCTGAGGGTTTACAGAGCCTCACCTGTCCCCAAGGTGGCAGAGCAGCTCATCAACCCCTTTGGAGAGGATGATGATGATTTTGAGACCAACTGGATTGTCGACAGGAATTTGCAGGTATGGGGAGAGGGAGAGAAACCATACCATGGACCTTCCCCAAAGTGGACCCAAAGAGAGGACCCCACTGTTCTGTAGGGAGGCCTCACAGTGAATGATCAACCCTTCCCCTCCTCCCTCCTGCAGCCAGTCATTCACTCACAGGATTCTCACCTCAATCTTTGAGGCTGCAGGCAGGCACCCATCTCCCCATTTCACAGGCAGGGAAACTGAGGTCCAGAGAGAGGGAGAGATTCCTCCAAGTCATCAGGCACATACAAGGTCCTGCCTGGGATGATCTTTCTGTGGGACTTCTTCTGTCCCTGGTGACCAGGTGTCCCTGTTGGCTGTGGATGAGATGCACCAGGACCTGCCTCGGATGGAGCCGGACATGTACTGGAATAAGCCCGAGCCACAGCCCCCCTACACAGCTGCTTCCGCCCAGTTCCGTCGAGCCTCCTTTATGGGCTCCACCTTCAACATCAGGTGTGGCCAGAGCCAGGGGGCTGGGTGGGAAGCCCCTCCTAGTGCAGGGGTCTGCCTAGGAACTTAGAATAGCACTAGTTAATGCATACAGGTTGCTTCAGTAAGTGTCAGGCACTGTACTATGCTCTTTATAAACATTAACTATTTTTTTCCTCCCAATAATTCTGGTTTGTTATCCCAAGTTTTCAGATAATTAAAGTACAGGTTCAGAGAGAGTAAGTTGTCCAAGGCCACATAGCTACCAAATGGTGCATTTGCTACTCGA
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AAGGGTGACGGCTTGGGAACTGGTGAGGTACTAGGGTCTACTTCCCTCTGCCCTTGCCCCTCTTGATCTCCGGTTTCCACTCTGGAGGTATGGGACATTGGTCTCTGACACCCCCTCAGCCTGGCCTGACCTGGTCCTGGTTAATAAGACAGACCCAGGCTAGGCGTGGTGGCTGTCGCCTGTAATCCCAGTGCTTTAGGAGGCAAAGGTGGGAAGATCGCTTGAGCCCAGCTGTTTGAGACGCCCCTGAGCAACATAGCGAGACCCCCATCTCTACAAAAACATTAAAAATTAGCAGGGCATGGTGGCGTGTGCCTGCAGTCTGAGGCTGAGTATCGGGAGGCTGAGGCAGGAGGATCACTTGAGCCCAGCAGTTCCAGGCTGCAGTGCGCTAAGATCGCACCGCTGCACTCCAACCTCGGTGACAGAGCCAGACCCTTTCTCTGGAAATAAATAAATACCCTGCCCACATGCTCAGCCCAGAACAGCACCTAGTAGGTGCTCAGAAATTTTTTTGTTGTTGAAAGAAAGAGGATGGCAAAGGAGTGCTGAGGTTCCTATAGGTCAGCAGGTGCCGGCCATCCCTTCTGCAGGTTCTCCCACCCACCGCCTTCTTCACTCCACTCTGCAGGCTTTATGACTCCGGCAGAACACAAGCAGTTGGAGAAACTGAGCCTACCACACAACATGTTCTGGGTGCCCTGGGTGTGGTTTGCCAACCTGTCAATGAAGGCGTGGCTTGGAGGTCGAATCCGGGACCCTATCCTGCTCCAGAGCCTGCTGAACGTGAGCCCACTGTACAGACAGGGCTGCCGCAGAGTGGGAAGGGCTGTGGTCCACAGGAAACAAGGTTTCCTACAAAGAGAAGCCTTGGGCCCCTGAGGGTCTTCCGAGAGCCTGAGGTGGGGTTGCAGAATCTTTTCCAACAGCAATCCACAGCCCGAGGTGGTCCCTTCTCAGAGGCCCCTCCCTCTTCTCCAAGTCTGTGAGGTCCTGGTTCCCTTTTGATAGATGAGGAAGCTGAGACACAAAGAGGTTTAGTGAGCTTCCCATGGCCACACAGCCAGGAATGGACCATAGGTACCAGGCCCTGGTACCTGGAGAAGAGGTGGGGGCGAGCCCAGGGTGGGGGCAGGTGGTGTTCAGAACCCCATCCCCCTCTTCTGCCCCCCAGGAGATGAACACCTTGCGTACTCAGTGTGGACACCTGTATGCCTACGACTGGATTAGTATCCCACTGGTGTATACACAGGTGAGGACTAGGCTGGTGAGGCTGCCCTTTTGGGAAACTGAGGCTAGAAGGACCAAGGAAGCAGCTGGGGTGGGAAGGGCTCACCTAGAGGCTAAGTGGCTCCCCTGGGAGTTGGGTCCACACTTTGAAGTTGGGTCTGGACTTTGAAGTGCCAAGTTCTAAGAGTCCAGGCTCCTGCCTGGCCCAGTCCAGTAGAGGCAATGTGATTATCCCCATATTAAAGAGAGGTTGGCCGGGTGCAGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAAGCTGAGGCAGGTGGATCACCTGAGGTCAGGAGTTCGAGACCAGCCTGGCCAACATGGTGAAACCCCATCTCTACTGAAAATACAGAATTAGCTGTGTGGTGGTGCACGCCTGTAATCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATCGCTTGAACCCGGGAGGTGGAGGTTGCAGTGAGCTGAGATCATGCCACTGCACTCCAGCCTGGGCGACACAGCAAGACTCTGTCTCAAACAAACAAACAAACAAACAAACAAAGGGGTTAACAGAGCCCCTAAGTCACATAAGTGTGCAAGTCAGAACAAGGCCTTGGTCTCCTGTCTCAGACTCCCAGCCCCTGGAGCATCCTGATTTCAGGGTTCCCACCTAGCCCTTTGCTACCACATCCTCCTCCTCCTCCCAGGTGGTGACTGTGGCGGTGTACAGCTTCTTCCTGACTTGTCTAGTTGGGCGGCAGTTTCTGAACCCAGCCAAGGCCTACCCTGGCCATGAGCTGGACCTCGTTGTGCCCGTCTTCATGTTCCTGCAGTTCTTCTTCTATGTTGGCTGGCTGAAGGTGGGCCTCTCCAGGGCCCTGCTGGGCTGGAGGCATGGCCAGAGGGGTCATGGCCAGCAGCTGCCTGAGACGAGGATGCAGTGTCAGGAAAGGAAGGTCTCACGGGTAGAAAGCAGCCAGGCGTGGTGGCGCACACCTGTAATCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATCGCTTGAACCCGGGAGGCGGAGGTTGTGGTGAGTTGAGATCGTGCCACTGCACTCCAGCCTGGGCAAAAGAATGAAACTCTATCTCAAAAACAACAACAACAACAAAACAAAGCCCTAAGGTTCAGAAGCCCCTGCCCTTTAGAAGGCAGATCGGCACCACCTCTCCTTATTCAAGATGCCTGTTGGGCTGTCTTGTTCCTCACCTCAAGTGGCTTGTCCAGGTATTCCCTCCCACCACAGCCAATACTCCGAACAGATGTTCTGAATCACACAGTTTTCTCTCCACCTCTTTATCTTTCCTTCCTTCTGTTGCCCACCCACTCTCTCTCCCTTCCTACCTTCCTTTATTTTTTGGTAATGGGGGTGTAAGTCTCTGTCTCTGCCCTTCCTGTCACTGTGACACACACACACACACACACACACACACACACATACACACACACACACACGCATTCCTATTCCTCTAAATTCCCCCTGCCCCCCCAGTTATCTTTGGTTTCTGCAGATCAAAACAAATCACACTTTTATGCTTGAAATTCTCCGGGGTGCCCCAGTGGCCTGCAAGATGTCCCCTGGACCCCTAAGGCAGACGCGTGTCACCTCTTCGGGGCTTTGTTAGGGCATTTTAGAGGTTGCTATCCAGGAATCTGCCCACCTAGACTGCCCTTTAGTTCAGCCCAGCTTCAGTATATATCTCTGTTGCATGAATGAATAAAATTATGCAACTCCAGGTAAGATACATGAGGTGAGATAAAGGCAGTGACTCAGCCGAGTGATACACTCAGGGACAGCTGTGGGTGTTCAGGGAAGGACTGGCTCAGAAGAGTTAGAGGGGCTGTGTCCAGAAGTGTGTGGGTGCCCACAAGTGTGGGGGGCTGGAGCCCTAAACTCTGCCTTTGAAGACAGTGGTCAGGCAGGAAGGGCGTCATGGGGTGTGGAAATAGCAGCAGCTGAGGTTTAAAGGGGGAAGCTGGCTTTGAGGAGTTCTGCCTGAGGGTTTACAGAGCCTCACCTGTCCCCAAGGTGGCAGAGCAGCTCATCAACCCCTTTGGAGAGGATGATGATGATTTTGAGACCAACTGGATTGTCGACAGGAATTTGCAGGTATGGGGAGAGGGAGAGAAACCATACCATGGACCTTCCCCAAAGTGGACCCAAAGAGAGGACCCCACTGTTCTGTAGGGAGGCCTCACAGTGAATGATCAACCCTTCCCCTCCTCCCTCCTGCAGCCAGTCATTCACTCACAGGATTCTCACCTCAATCTTTGAGGCTGCAGGCAGGCACCCATCTCCCCATTTCACAGGCAGGGAAACTGAGGTCCAGAGAGAGGGAGAGATTCCTCCAAGTCATCAGGCACATACAAGGTCCTGCCTGGGATGATCTTTCTGTGGGACTTCTTCTGTCCCTGGTGACCAGGTGTCCCTGTTGGCTGTGGATGAGATGCACCAGGACCTGCCTCGGATGGAGCCGGACATGTACTGGAATAAGCCCGAGCCACAGCCCCCCTACACAGCTGCTTCCGCCCAGTTCCGTCGAGCCTCCTTTATGGGCTCCACCTTCAACATCAGGTGTGGCCAGAGCCAGGGGGCTGGGTGGGAAGCCCCTCCTAGTGCAGGGGTCTGCCTAGGAACTTAGAATAGCACTAGTTAATGCATACAGGTTGCTTCAGTAAGTGTCAGGCACTGTACTATGCTCTTTATAAACATTAACTATTTTTTTCCTCCCAATAATTCTGGTTTGTTATCCCAAGTTTTCAGATAATTAAAGTACAGGTTCAGAGAGAGTAAGTTGTCCAAGGCCACATAGCTACCAAATGGTGCATTTGCTACTCGA
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Task1_train_15936
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Here is a genetic alteration in BEST1 (bestrophin 1) on Chromosome 11. Based on the data, is it a benign variant or a cause of disease?
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Pathogenic; Vitelliform macular dystrophy 2
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GGTGAGGTACTAGGGTCTACTTCCCTCTGCCCTTGCCCCTCTTGATCTCCGGTTTCCACTCTGGAGGTATGGGACATTGGTCTCTGACACCCCCTCAGCCTGGCCTGACCTGGTCCTGGTTAATAAGACAGACCCAGGCTAGGCGTGGTGGCTGTCGCCTGTAATCCCAGTGCTTTAGGAGGCAAAGGTGGGAAGATCGCTTGAGCCCAGCTGTTTGAGACGCCCCTGAGCAACATAGCGAGACCCCCATCTCTACAAAAACATTAAAAATTAGCAGGGCATGGTGGCGTGTGCCTGCAGTCTGAGGCTGAGTATCGGGAGGCTGAGGCAGGAGGATCACTTGAGCCCAGCAGTTCCAGGCTGCAGTGCGCTAAGATCGCACCGCTGCACTCCAACCTCGGTGACAGAGCCAGACCCTTTCTCTGGAAATAAATAAATACCCTGCCCACATGCTCAGCCCAGAACAGCACCTAGTAGGTGCTCAGAAATTTTTTTGTTGTTGAAAGAAAGAGGATGGCAAAGGAGTGCTGAGGTTCCTATAGGTCAGCAGGTGCCGGCCATCCCTTCTGCAGGTTCTCCCACCCACCGCCTTCTTCACTCCACTCTGCAGGCTTTATGACTCCGGCAGAACACAAGCAGTTGGAGAAACTGAGCCTACCACACAACATGTTCTGGGTGCCCTGGGTGTGGTTTGCCAACCTGTCAATGAAGGCGTGGCTTGGAGGTCGAATCCGGGACCCTATCCTGCTCCAGAGCCTGCTGAACGTGAGCCCACTGTACAGACAGGGCTGCCGCAGAGTGGGAAGGGCTGTGGTCCACAGGAAACAAGGTTTCCTACAAAGAGAAGCCTTGGGCCCCTGAGGGTCTTCCGAGAGCCTGAGGTGGGGTTGCAGAATCTTTTCCAACAGCAATCCACAGCCCGAGGTGGTCCCTTCTCAGAGGCCCCTCCCTCTTCTCCAAGTCTGTGAGGTCCTGGTTCCCTTTTGATAGATGAGGAAGCTGAGACACAAAGAGGTTTAGTGAGCTTCCCATGGCCACACAGCCAGGAATGGACCATAGGTACCAGGCCCTGGTACCTGGAGAAGAGGTGGGGGCGAGCCCAGGGTGGGGGCAGGTGGTGTTCAGAACCCCATCCCCCTCTTCTGCCCCCCAGGAGATGAACACCTTGCGTACTCAGTGTGGACACCTGTATGCCTACGACTGGATTAGTATCCCACTGGTGTATACACAGGTGAGGACTAGGCTGGTGAGGCTGCCCTTTTGGGAAACTGAGGCTAGAAGGACCAAGGAAGCAGCTGGGGTGGGAAGGGCTCACCTAGAGGCTAAGTGGCTCCCCTGGGAGTTGGGTCCACACTTTGAAGTTGGGTCTGGACTTTGAAGTGCCAAGTTCTAAGAGTCCAGGCTCCTGCCTGGCCCAGTCCAGTAGAGGCAATGTGATTATCCCCATATTAAAGAGAGGTTGGCCGGGTGCAGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAAGCTGAGGCAGGTGGATCACCTGAGGTCAGGAGTTCGAGACCAGCCTGGCCAACATGGTGAAACCCCATCTCTACTGAAAATACAGAATTAGCTGTGTGGTGGTGCACGCCTGTAATCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATCGCTTGAACCCGGGAGGTGGAGGTTGCAGTGAGCTGAGATCATGCCACTGCACTCCAGCCTGGGCGACACAGCAAGACTCTGTCTCAAACAAACAAACAAACAAACAAACAAAGGGGTTAACAGAGCCCCTAAGTCACATAAGTGTGCAAGTCAGAACAAGGCCTTGGTCTCCTGTCTCAGACTCCCAGCCCCTGGAGCATCCTGATTTCAGGGTTCCCACCTAGCCCTTTGCTACCACATCCTCCTCCTCCTCCCAGGTGGTGACTGTGGCGGTGTACAGCTTCTTCCTGACTTGTCTAGTTGGGCGGCAGTTTCTGAACCCAGCCAAGGCCTACCCTGGCCATGAGCTGGACCTCGTTGTGCCCGTCTTCACGTTCCTGCAGTTCTTCTTCTATGTTGGCTGGCTGAAGGTGGGCCTCTCCAGGGCCCTGCTGGGCTGGAGGCATGGCCAGAGGGGTCATGGCCAGCAGCTGCCTGAGACGAGGATGCAGTGTCAGGAAAGGAAGGTCTCACGGGTAGAAAGCAGCCAGGCGTGGTGGCGCACACCTGTAATCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATCGCTTGAACCCGGGAGGCGGAGGTTGTGGTGAGTTGAGATCGTGCCACTGCACTCCAGCCTGGGCAAAAGAATGAAACTCTATCTCAAAAACAACAACAACAACAAAACAAAGCCCTAAGGTTCAGAAGCCCCTGCCCTTTAGAAGGCAGATCGGCACCACCTCTCCTTATTCAAGATGCCTGTTGGGCTGTCTTGTTCCTCACCTCAAGTGGCTTGTCCAGGTATTCCCTCCCACCACAGCCAATACTCCGAACAGATGTTCTGAATCACACAGTTTTCTCTCCACCTCTTTATCTTTCCTTCCTTCTGTTGCCCACCCACTCTCTCTCCCTTCCTACCTTCCTTTATTTTTTGGTAATGGGGGTGTAAGTCTCTGTCTCTGCCCTTCCTGTCACTGTGACACACACACACACACACACACACACACACACATACACACACACACACACGCATTCCTATTCCTCTAAATTCCCCCTGCCCCCCCAGTTATCTTTGGTTTCTGCAGATCAAAACAAATCACACTTTTATGCTTGAAATTCTCCGGGGTGCCCCAGTGGCCTGCAAGATGTCCCCTGGACCCCTAAGGCAGACGCGTGTCACCTCTTCGGGGCTTTGTTAGGGCATTTTAGAGGTTGCTATCCAGGAATCTGCCCACCTAGACTGCCCTTTAGTTCAGCCCAGCTTCAGTATATATCTCTGTTGCATGAATGAATAAAATTATGCAACTCCAGGTAAGATACATGAGGTGAGATAAAGGCAGTGACTCAGCCGAGTGATACACTCAGGGACAGCTGTGGGTGTTCAGGGAAGGACTGGCTCAGAAGAGTTAGAGGGGCTGTGTCCAGAAGTGTGTGGGTGCCCACAAGTGTGGGGGGCTGGAGCCCTAAACTCTGCCTTTGAAGACAGTGGTCAGGCAGGAAGGGCGTCATGGGGTGTGGAAATAGCAGCAGCTGAGGTTTAAAGGGGGAAGCTGGCTTTGAGGAGTTCTGCCTGAGGGTTTACAGAGCCTCACCTGTCCCCAAGGTGGCAGAGCAGCTCATCAACCCCTTTGGAGAGGATGATGATGATTTTGAGACCAACTGGATTGTCGACAGGAATTTGCAGGTATGGGGAGAGGGAGAGAAACCATACCATGGACCTTCCCCAAAGTGGACCCAAAGAGAGGACCCCACTGTTCTGTAGGGAGGCCTCACAGTGAATGATCAACCCTTCCCCTCCTCCCTCCTGCAGCCAGTCATTCACTCACAGGATTCTCACCTCAATCTTTGAGGCTGCAGGCAGGCACCCATCTCCCCATTTCACAGGCAGGGAAACTGAGGTCCAGAGAGAGGGAGAGATTCCTCCAAGTCATCAGGCACATACAAGGTCCTGCCTGGGATGATCTTTCTGTGGGACTTCTTCTGTCCCTGGTGACCAGGTGTCCCTGTTGGCTGTGGATGAGATGCACCAGGACCTGCCTCGGATGGAGCCGGACATGTACTGGAATAAGCCCGAGCCACAGCCCCCCTACACAGCTGCTTCCGCCCAGTTCCGTCGAGCCTCCTTTATGGGCTCCACCTTCAACATCAGGTGTGGCCAGAGCCAGGGGGCTGGGTGGGAAGCCCCTCCTAGTGCAGGGGTCTGCCTAGGAACTTAGAATAGCACTAGTTAATGCATACAGGTTGCTTCAGTAAGTGTCAGGCACTGTACTATGCTCTTTATAAACATTAACTATTTTTTTCCTCCCAATAATTCTGGTTTGTTATCCCAAGTTTTCAGATAATTAAAGTACAGGTTCAGAGAGAGTAAGTTGTCCAAGGCCACATAGCTACCAAATGGTGCATTTGCTACTCGAAGGACAGCCTGTGATCAGTGA
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GGTGAGGTACTAGGGTCTACTTCCCTCTGCCCTTGCCCCTCTTGATCTCCGGTTTCCACTCTGGAGGTATGGGACATTGGTCTCTGACACCCCCTCAGCCTGGCCTGACCTGGTCCTGGTTAATAAGACAGACCCAGGCTAGGCGTGGTGGCTGTCGCCTGTAATCCCAGTGCTTTAGGAGGCAAAGGTGGGAAGATCGCTTGAGCCCAGCTGTTTGAGACGCCCCTGAGCAACATAGCGAGACCCCCATCTCTACAAAAACATTAAAAATTAGCAGGGCATGGTGGCGTGTGCCTGCAGTCTGAGGCTGAGTATCGGGAGGCTGAGGCAGGAGGATCACTTGAGCCCAGCAGTTCCAGGCTGCAGTGCGCTAAGATCGCACCGCTGCACTCCAACCTCGGTGACAGAGCCAGACCCTTTCTCTGGAAATAAATAAATACCCTGCCCACATGCTCAGCCCAGAACAGCACCTAGTAGGTGCTCAGAAATTTTTTTGTTGTTGAAAGAAAGAGGATGGCAAAGGAGTGCTGAGGTTCCTATAGGTCAGCAGGTGCCGGCCATCCCTTCTGCAGGTTCTCCCACCCACCGCCTTCTTCACTCCACTCTGCAGGCTTTATGACTCCGGCAGAACACAAGCAGTTGGAGAAACTGAGCCTACCACACAACATGTTCTGGGTGCCCTGGGTGTGGTTTGCCAACCTGTCAATGAAGGCGTGGCTTGGAGGTCGAATCCGGGACCCTATCCTGCTCCAGAGCCTGCTGAACGTGAGCCCACTGTACAGACAGGGCTGCCGCAGAGTGGGAAGGGCTGTGGTCCACAGGAAACAAGGTTTCCTACAAAGAGAAGCCTTGGGCCCCTGAGGGTCTTCCGAGAGCCTGAGGTGGGGTTGCAGAATCTTTTCCAACAGCAATCCACAGCCCGAGGTGGTCCCTTCTCAGAGGCCCCTCCCTCTTCTCCAAGTCTGTGAGGTCCTGGTTCCCTTTTGATAGATGAGGAAGCTGAGACACAAAGAGGTTTAGTGAGCTTCCCATGGCCACACAGCCAGGAATGGACCATAGGTACCAGGCCCTGGTACCTGGAGAAGAGGTGGGGGCGAGCCCAGGGTGGGGGCAGGTGGTGTTCAGAACCCCATCCCCCTCTTCTGCCCCCCAGGAGATGAACACCTTGCGTACTCAGTGTGGACACCTGTATGCCTACGACTGGATTAGTATCCCACTGGTGTATACACAGGTGAGGACTAGGCTGGTGAGGCTGCCCTTTTGGGAAACTGAGGCTAGAAGGACCAAGGAAGCAGCTGGGGTGGGAAGGGCTCACCTAGAGGCTAAGTGGCTCCCCTGGGAGTTGGGTCCACACTTTGAAGTTGGGTCTGGACTTTGAAGTGCCAAGTTCTAAGAGTCCAGGCTCCTGCCTGGCCCAGTCCAGTAGAGGCAATGTGATTATCCCCATATTAAAGAGAGGTTGGCCGGGTGCAGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAAGCTGAGGCAGGTGGATCACCTGAGGTCAGGAGTTCGAGACCAGCCTGGCCAACATGGTGAAACCCCATCTCTACTGAAAATACAGAATTAGCTGTGTGGTGGTGCACGCCTGTAATCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATCGCTTGAACCCGGGAGGTGGAGGTTGCAGTGAGCTGAGATCATGCCACTGCACTCCAGCCTGGGCGACACAGCAAGACTCTGTCTCAAACAAACAAACAAACAAACAAACAAAGGGGTTAACAGAGCCCCTAAGTCACATAAGTGTGCAAGTCAGAACAAGGCCTTGGTCTCCTGTCTCAGACTCCCAGCCCCTGGAGCATCCTGATTTCAGGGTTCCCACCTAGCCCTTTGCTACCACATCCTCCTCCTCCTCCCAGGTGGTGACTGTGGCGGTGTACAGCTTCTTCCTGACTTGTCTAGTTGGGCGGCAGTTTCTGAACCCAGCCAAGGCCTACCCTGGCCATGAGCTGGACCTCGTTGTGCCCGTCTTCACGTTCCTGCAGTTCTTCTTCTTTGTTGGCTGGCTGAAGGTGGGCCTCTCCAGGGCCCTGCTGGGCTGGAGGCATGGCCAGAGGGGTCATGGCCAGCAGCTGCCTGAGACGAGGATGCAGTGTCAGGAAAGGAAGGTCTCACGGGTAGAAAGCAGCCAGGCGTGGTGGCGCACACCTGTAATCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATCGCTTGAACCCGGGAGGCGGAGGTTGTGGTGAGTTGAGATCGTGCCACTGCACTCCAGCCTGGGCAAAAGAATGAAACTCTATCTCAAAAACAACAACAACAACAAAACAAAGCCCTAAGGTTCAGAAGCCCCTGCCCTTTAGAAGGCAGATCGGCACCACCTCTCCTTATTCAAGATGCCTGTTGGGCTGTCTTGTTCCTCACCTCAAGTGGCTTGTCCAGGTATTCCCTCCCACCACAGCCAATACTCCGAACAGATGTTCTGAATCACACAGTTTTCTCTCCACCTCTTTATCTTTCCTTCCTTCTGTTGCCCACCCACTCTCTCTCCCTTCCTACCTTCCTTTATTTTTTGGTAATGGGGGTGTAAGTCTCTGTCTCTGCCCTTCCTGTCACTGTGACACACACACACACACACACACACACACACACATACACACACACACACACGCATTCCTATTCCTCTAAATTCCCCCTGCCCCCCCAGTTATCTTTGGTTTCTGCAGATCAAAACAAATCACACTTTTATGCTTGAAATTCTCCGGGGTGCCCCAGTGGCCTGCAAGATGTCCCCTGGACCCCTAAGGCAGACGCGTGTCACCTCTTCGGGGCTTTGTTAGGGCATTTTAGAGGTTGCTATCCAGGAATCTGCCCACCTAGACTGCCCTTTAGTTCAGCCCAGCTTCAGTATATATCTCTGTTGCATGAATGAATAAAATTATGCAACTCCAGGTAAGATACATGAGGTGAGATAAAGGCAGTGACTCAGCCGAGTGATACACTCAGGGACAGCTGTGGGTGTTCAGGGAAGGACTGGCTCAGAAGAGTTAGAGGGGCTGTGTCCAGAAGTGTGTGGGTGCCCACAAGTGTGGGGGGCTGGAGCCCTAAACTCTGCCTTTGAAGACAGTGGTCAGGCAGGAAGGGCGTCATGGGGTGTGGAAATAGCAGCAGCTGAGGTTTAAAGGGGGAAGCTGGCTTTGAGGAGTTCTGCCTGAGGGTTTACAGAGCCTCACCTGTCCCCAAGGTGGCAGAGCAGCTCATCAACCCCTTTGGAGAGGATGATGATGATTTTGAGACCAACTGGATTGTCGACAGGAATTTGCAGGTATGGGGAGAGGGAGAGAAACCATACCATGGACCTTCCCCAAAGTGGACCCAAAGAGAGGACCCCACTGTTCTGTAGGGAGGCCTCACAGTGAATGATCAACCCTTCCCCTCCTCCCTCCTGCAGCCAGTCATTCACTCACAGGATTCTCACCTCAATCTTTGAGGCTGCAGGCAGGCACCCATCTCCCCATTTCACAGGCAGGGAAACTGAGGTCCAGAGAGAGGGAGAGATTCCTCCAAGTCATCAGGCACATACAAGGTCCTGCCTGGGATGATCTTTCTGTGGGACTTCTTCTGTCCCTGGTGACCAGGTGTCCCTGTTGGCTGTGGATGAGATGCACCAGGACCTGCCTCGGATGGAGCCGGACATGTACTGGAATAAGCCCGAGCCACAGCCCCCCTACACAGCTGCTTCCGCCCAGTTCCGTCGAGCCTCCTTTATGGGCTCCACCTTCAACATCAGGTGTGGCCAGAGCCAGGGGGCTGGGTGGGAAGCCCCTCCTAGTGCAGGGGTCTGCCTAGGAACTTAGAATAGCACTAGTTAATGCATACAGGTTGCTTCAGTAAGTGTCAGGCACTGTACTATGCTCTTTATAAACATTAACTATTTTTTTCCTCCCAATAATTCTGGTTTGTTATCCCAAGTTTTCAGATAATTAAAGTACAGGTTCAGAGAGAGTAAGTTGTCCAAGGCCACATAGCTACCAAATGGTGCATTTGCTACTCGAAGGACAGCCTGTGATCAGTGA
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Task1_train_15937
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Consider this mutation in BEST1 (bestrophin 1) on Chromosome 11. Is this a benign change or a disease-causing variant?
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Pathogenic; Retinal dystrophy
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ACACAGGTGAGGACTAGGCTGGTGAGGCTGCCCTTTTGGGAAACTGAGGCTAGAAGGACCAAGGAAGCAGCTGGGGTGGGAAGGGCTCACCTAGAGGCTAAGTGGCTCCCCTGGGAGTTGGGTCCACACTTTGAAGTTGGGTCTGGACTTTGAAGTGCCAAGTTCTAAGAGTCCAGGCTCCTGCCTGGCCCAGTCCAGTAGAGGCAATGTGATTATCCCCATATTAAAGAGAGGTTGGCCGGGTGCAGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAAGCTGAGGCAGGTGGATCACCTGAGGTCAGGAGTTCGAGACCAGCCTGGCCAACATGGTGAAACCCCATCTCTACTGAAAATACAGAATTAGCTGTGTGGTGGTGCACGCCTGTAATCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATCGCTTGAACCCGGGAGGTGGAGGTTGCAGTGAGCTGAGATCATGCCACTGCACTCCAGCCTGGGCGACACAGCAAGACTCTGTCTCAAACAAACAAACAAACAAACAAACAAAGGGGTTAACAGAGCCCCTAAGTCACATAAGTGTGCAAGTCAGAACAAGGCCTTGGTCTCCTGTCTCAGACTCCCAGCCCCTGGAGCATCCTGATTTCAGGGTTCCCACCTAGCCCTTTGCTACCACATCCTCCTCCTCCTCCCAGGTGGTGACTGTGGCGGTGTACAGCTTCTTCCTGACTTGTCTAGTTGGGCGGCAGTTTCTGAACCCAGCCAAGGCCTACCCTGGCCATGAGCTGGACCTCGTTGTGCCCGTCTTCACGTTCCTGCAGTTCTTCTTCTATGTTGGCTGGCTGAAGGTGGGCCTCTCCAGGGCCCTGCTGGGCTGGAGGCATGGCCAGAGGGGTCATGGCCAGCAGCTGCCTGAGACGAGGATGCAGTGTCAGGAAAGGAAGGTCTCACGGGTAGAAAGCAGCCAGGCGTGGTGGCGCACACCTGTAATCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATCGCTTGAACCCGGGAGGCGGAGGTTGTGGTGAGTTGAGATCGTGCCACTGCACTCCAGCCTGGGCAAAAGAATGAAACTCTATCTCAAAAACAACAACAACAACAAAACAAAGCCCTAAGGTTCAGAAGCCCCTGCCCTTTAGAAGGCAGATCGGCACCACCTCTCCTTATTCAAGATGCCTGTTGGGCTGTCTTGTTCCTCACCTCAAGTGGCTTGTCCAGGTATTCCCTCCCACCACAGCCAATACTCCGAACAGATGTTCTGAATCACACAGTTTTCTCTCCACCTCTTTATCTTTCCTTCCTTCTGTTGCCCACCCACTCTCTCTCCCTTCCTACCTTCCTTTATTTTTTGGTAATGGGGGTGTAAGTCTCTGTCTCTGCCCTTCCTGTCACTGTGACACACACACACACACACACACACACACACACATACACACACACACACACGCATTCCTATTCCTCTAAATTCCCCCTGCCCCCCCAGTTATCTTTGGTTTCTGCAGATCAAAACAAATCACACTTTTATGCTTGAAATTCTCCGGGGTGCCCCAGTGGCCTGCAAGATGTCCCCTGGACCCCTAAGGCAGACGCGTGTCACCTCTTCGGGGCTTTGTTAGGGCATTTTAGAGGTTGCTATCCAGGAATCTGCCCACCTAGACTGCCCTTTAGTTCAGCCCAGCTTCAGTATATATCTCTGTTGCATGAATGAATAAAATTATGCAACTCCAGGTAAGATACATGAGGTGAGATAAAGGCAGTGACTCAGCCGAGTGATACACTCAGGGACAGCTGTGGGTGTTCAGGGAAGGACTGGCTCAGAAGAGTTAGAGGGGCTGTGTCCAGAAGTGTGTGGGTGCCCACAAGTGTGGGGGGCTGGAGCCCTAAACTCTGCCTTTGAAGACAGTGGTCAGGCAGGAAGGGCGTCATGGGGTGTGGAAATAGCAGCAGCTGAGGTTTAAAGGGGGAAGCTGGCTTTGAGGAGTTCTGCCTGAGGGTTTACAGAGCCTCACCTGTCCCCAAGGTGGCAGAGCAGCTCATCAACCCCTTTGGAGAGGATGATGATGATTTTGAGACCAACTGGATTGTCGACAGGAATTTGCAGGTATGGGGAGAGGGAGAGAAACCATACCATGGACCTTCCCCAAAGTGGACCCAAAGAGAGGACCCCACTGTTCTGTAGGGAGGCCTCACAGTGAATGATCAACCCTTCCCCTCCTCCCTCCTGCAGCCAGTCATTCACTCACAGGATTCTCACCTCAATCTTTGAGGCTGCAGGCAGGCACCCATCTCCCCATTTCACAGGCAGGGAAACTGAGGTCCAGAGAGAGGGAGAGATTCCTCCAAGTCATCAGGCACATACAAGGTCCTGCCTGGGATGATCTTTCTGTGGGACTTCTTCTGTCCCTGGTGACCAGGTGTCCCTGTTGGCTGTGGATGAGATGCACCAGGACCTGCCTCGGATGGAGCCGGACATGTACTGGAATAAGCCCGAGCCACAGCCCCCCTACACAGCTGCTTCCGCCCAGTTCCGTCGAGCCTCCTTTATGGGCTCCACCTTCAACATCAGGTGTGGCCAGAGCCAGGGGGCTGGGTGGGAAGCCCCTCCTAGTGCAGGGGTCTGCCTAGGAACTTAGAATAGCACTAGTTAATGCATACAGGTTGCTTCAGTAAGTGTCAGGCACTGTACTATGCTCTTTATAAACATTAACTATTTTTTTCCTCCCAATAATTCTGGTTTGTTATCCCAAGTTTTCAGATAATTAAAGTACAGGTTCAGAGAGAGTAAGTTGTCCAAGGCCACATAGCTACCAAATGGTGCATTTGCTACTCGAAGGACAGCCTGTGATCAGTGATGCAGTGGAACGTTAGGACCTGGCTCTTGTCATCCAGAACTATGTTTTCTTTTCTTTTTGAGACAGTATCTCGCTCTGTCGCCCAGGTTGGAGCGCAGTGGCGTGATCTTGGCTCACTGCAACCTCCGCCTCCTGGGTTCAAGTGATTCTCCTGCTTCAGCCTCCCCAGTAGCTGGGATTACAGGTGCCCACAACCACAACTGGCTAATTTTTGTACTTTTAGTAGAGATGAGGTTTCACCATGTTGGCCAGGCTGGTCTCCAACTCCTGACCAGTAATCTGCCCGCTTTGGCCTCCCAAAATGCTGGAATTATAGGTGTCAAAACTATGTTTTCTGATAAGCTACGATGCTTGGATGGGAAGTGGAAGTGGGGTTCCCTGGGATGGGGGAGGGGCAGCAAAGTCCCAGCAGGCAGCCAGGCCATCACAGGTACCTCCTGAATTGACTTTGTCCTACCGAGTAAAGGGCTCAGGCCACCCACAGCAGCCAGACTTATCCCCACATGGTCCCACTTCCCTGATTCCATCTGAATCCCTCTTGAGCTGCAGTGGGCTGAAGGGCTATCCCAGCTGGTCCTTTCTCCCCAGGACAACAGAGTTGAAAGTGCCTTGGAGAGTGTTGGGCACATGTCAGGGTTCATACTCAAGGGTTTCTTCCACGGTATCCAGTGCTGTTCTCGCTTGTTCTTTTCTTTTTTTTTTTTTAAACGGAGTTTCACTCTTGTTGCCCAGAGCTGGAGTGCAGTGGCATAATCTCGGCTCACTGCAACCTCCGCCTCCCAGATTCAAGCAATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTATAGGTGCCAGCCACCAAGCCCGGCTAATTTTTGTATTTTTAGTAGAGACAGTTTCACCATGTTGGCCAGGCTGGTCTCGAACTCCTGACCTCAGGTGATCCACCCTCCTCAGCCTCCCAAAGTGCTGGGATTACATGTGTGAGCCACTGTGCCTGGCTGCTTGTTCTTTTAAGAACCAAATATCCTACTAGACTGCAATCGAGTTTAACTACAGTCTATAGATAGTGTGAGGAAGGGTTGGGAAGGTGATCAAATGAAGGCTGGAGGCTTGCTTAGGTCAGAAACATTTCTGGAGGATGACTTTGAGCCCTACATGGTCTGTACCCCAGCAGCTGAAGGTTGTTGAGGGGTGGGGAGGGCTGAAAACAGAACGATAAAGCATAGACCTTGTCTCCAA
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ACACAGGTGAGGACTAGGCTGGTGAGGCTGCCCTTTTGGGAAACTGAGGCTAGAAGGACCAAGGAAGCAGCTGGGGTGGGAAGGGCTCACCTAGAGGCTAAGTGGCTCCCCTGGGAGTTGGGTCCACACTTTGAAGTTGGGTCTGGACTTTGAAGTGCCAAGTTCTAAGAGTCCAGGCTCCTGCCTGGCCCAGTCCAGTAGAGGCAATGTGATTATCCCCATATTAAAGAGAGGTTGGCCGGGTGCAGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAAGCTGAGGCAGGTGGATCACCTGAGGTCAGGAGTTCGAGACCAGCCTGGCCAACATGGTGAAACCCCATCTCTACTGAAAATACAGAATTAGCTGTGTGGTGGTGCACGCCTGTAATCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATCGCTTGAACCCGGGAGGTGGAGGTTGCAGTGAGCTGAGATCATGCCACTGCACTCCAGCCTGGGCGACACAGCAAGACTCTGTCTCAAACAAACAAACAAACAAACAAACAAAGGGGTTAACAGAGCCCCTAAGTCACATAAGTGTGCAAGTCAGAACAAGGCCTTGGTCTCCTGTCTCAGACTCCCAGCCCCTGGAGCATCCTGATTTCAGGGTTCCCACCTAGCCCTTTGCTACCACATCCTCCTCCTCCTCCCAGGTGGTGACTGTGGCGGTGTACAGCTTCTTCCTGACTTGTCTAGTTGGGCGGCAGTTTCTGAACCCAGCCAAGGCCTACCCTGGCCATGAGCTGGACCTCGTTGTGCCCGTCTTCACGTTCCTGCAGTTCTTCTTCTATGTTGGCTGGCTGAAGGTGGGCCTCTCCAGGGCCCTGCTGGGCTGGAGGCATGGCCAGAGGGGTCATGGCCAGCAGCTGCCTGAGACGAGGATGCAGTGTCAGGAAAGGAAGGTCTCACGGGTAGAAAGCAGCCAGGCGTGGTGGCGCACACCTGTAATCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATCGCTTGAACCCGGGAGGCGGAGGTTGTGGTGAGTTGAGATCGTGCCACTGCACTCCAGCCTGGGCAAAAGAATGAAACTCTATCTCAAAAACAACAACAACAACAAAACAAAGCCCTAAGGTTCAGAAGCCCCTGCCCTTTAGAAGGCAGATCGGCACCACCTCTCCTTATTCAAGATGCCTGTTGGGCTGTCTTGTTCCTCACCTCAAGTGGCTTGTCCAGGTATTCCCTCCCACCACAGCCAATACTCCGAACAGATGTTCTGAATCACACAGTTTTCTCTCCACCTCTTTATCTTTCCTTCCTTCTGTTGCCCACCCACTCTCTCTCCCTTCCTACCTTCCTTTATTTTTTGGTAATGGGGGTGTAAGTCTCTGTCTCTGCCCTTCCTGTCACTGTGACACACACACACACACACACACACACACACACATACACACACACACACACGCATTCCTATTCCTCTAAATTCCCCCTGCCCCCCCAGTTATCTTTGGTTTCTGCAGATCAAAACAAATCACACTTTTATGCTTGAAATTCTCCGGGGTGCCCCAGTGGCCTGCAAGATGTCCCCTGGACCCCTAAGGCAGACGCGTGTCACCTCTTCGGGGCTTTGTTAGGGCATTTTAGAGGTTGCTATCCAGGAATCTGCCCACCTAGACTGCCCTTTAGTTCAGCCCAGCTTCAGTATATATCTCTGTTGCATGAATGAATAAAATTATGCAACTCCAGGTAAGATACATGAGGTGAGATAAAGGCAGTGACTCAGCCGAGTGATACACTCAGGGACAGCTGTGGGTGTTCAGGGAAGGACTGGCTCAGAAGAGTTAGAGGGGCTGTGTCCAGAAGTGTGTGGGTGCCCACAAGTGTGGGGGGCTGGAGCCCTAAACTCTGCCTTTGAAGACAGTGGTCAGGCAGGAAGGGCGTCATGGGGTGTGGAAATAGCAGCAGCTGAGGTTTAAAGGGGGAAGCTGGCTTTGAGGAGTTCTGCCTGAGGGTTTACAGAGCCTCACCTGTCCCCAAGGTGGCAGAGAAGCTCATCAACCCCTTTGGAGAGGATGATGATGATTTTGAGACCAACTGGATTGTCGACAGGAATTTGCAGGTATGGGGAGAGGGAGAGAAACCATACCATGGACCTTCCCCAAAGTGGACCCAAAGAGAGGACCCCACTGTTCTGTAGGGAGGCCTCACAGTGAATGATCAACCCTTCCCCTCCTCCCTCCTGCAGCCAGTCATTCACTCACAGGATTCTCACCTCAATCTTTGAGGCTGCAGGCAGGCACCCATCTCCCCATTTCACAGGCAGGGAAACTGAGGTCCAGAGAGAGGGAGAGATTCCTCCAAGTCATCAGGCACATACAAGGTCCTGCCTGGGATGATCTTTCTGTGGGACTTCTTCTGTCCCTGGTGACCAGGTGTCCCTGTTGGCTGTGGATGAGATGCACCAGGACCTGCCTCGGATGGAGCCGGACATGTACTGGAATAAGCCCGAGCCACAGCCCCCCTACACAGCTGCTTCCGCCCAGTTCCGTCGAGCCTCCTTTATGGGCTCCACCTTCAACATCAGGTGTGGCCAGAGCCAGGGGGCTGGGTGGGAAGCCCCTCCTAGTGCAGGGGTCTGCCTAGGAACTTAGAATAGCACTAGTTAATGCATACAGGTTGCTTCAGTAAGTGTCAGGCACTGTACTATGCTCTTTATAAACATTAACTATTTTTTTCCTCCCAATAATTCTGGTTTGTTATCCCAAGTTTTCAGATAATTAAAGTACAGGTTCAGAGAGAGTAAGTTGTCCAAGGCCACATAGCTACCAAATGGTGCATTTGCTACTCGAAGGACAGCCTGTGATCAGTGATGCAGTGGAACGTTAGGACCTGGCTCTTGTCATCCAGAACTATGTTTTCTTTTCTTTTTGAGACAGTATCTCGCTCTGTCGCCCAGGTTGGAGCGCAGTGGCGTGATCTTGGCTCACTGCAACCTCCGCCTCCTGGGTTCAAGTGATTCTCCTGCTTCAGCCTCCCCAGTAGCTGGGATTACAGGTGCCCACAACCACAACTGGCTAATTTTTGTACTTTTAGTAGAGATGAGGTTTCACCATGTTGGCCAGGCTGGTCTCCAACTCCTGACCAGTAATCTGCCCGCTTTGGCCTCCCAAAATGCTGGAATTATAGGTGTCAAAACTATGTTTTCTGATAAGCTACGATGCTTGGATGGGAAGTGGAAGTGGGGTTCCCTGGGATGGGGGAGGGGCAGCAAAGTCCCAGCAGGCAGCCAGGCCATCACAGGTACCTCCTGAATTGACTTTGTCCTACCGAGTAAAGGGCTCAGGCCACCCACAGCAGCCAGACTTATCCCCACATGGTCCCACTTCCCTGATTCCATCTGAATCCCTCTTGAGCTGCAGTGGGCTGAAGGGCTATCCCAGCTGGTCCTTTCTCCCCAGGACAACAGAGTTGAAAGTGCCTTGGAGAGTGTTGGGCACATGTCAGGGTTCATACTCAAGGGTTTCTTCCACGGTATCCAGTGCTGTTCTCGCTTGTTCTTTTCTTTTTTTTTTTTTAAACGGAGTTTCACTCTTGTTGCCCAGAGCTGGAGTGCAGTGGCATAATCTCGGCTCACTGCAACCTCCGCCTCCCAGATTCAAGCAATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTATAGGTGCCAGCCACCAAGCCCGGCTAATTTTTGTATTTTTAGTAGAGACAGTTTCACCATGTTGGCCAGGCTGGTCTCGAACTCCTGACCTCAGGTGATCCACCCTCCTCAGCCTCCCAAAGTGCTGGGATTACATGTGTGAGCCACTGTGCCTGGCTGCTTGTTCTTTTAAGAACCAAATATCCTACTAGACTGCAATCGAGTTTAACTACAGTCTATAGATAGTGTGAGGAAGGGTTGGGAAGGTGATCAAATGAAGGCTGGAGGCTTGCTTAGGTCAGAAACATTTCTGGAGGATGACTTTGAGCCCTACATGGTCTGTACCCCAGCAGCTGAAGGTTGTTGAGGGGTGGGGAGGGCTGAAAACAGAACGATAAAGCATAGACCTTGTCTCCAA
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Task1_train_15938
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With a mutation on Chromosome 11 in gene BEST1 (bestrophin 1), classify this variant as benign or pathogenic. Include the disease if it's pathogenic.
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Pathogenic; not provided
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ACAGGTGAGGACTAGGCTGGTGAGGCTGCCCTTTTGGGAAACTGAGGCTAGAAGGACCAAGGAAGCAGCTGGGGTGGGAAGGGCTCACCTAGAGGCTAAGTGGCTCCCCTGGGAGTTGGGTCCACACTTTGAAGTTGGGTCTGGACTTTGAAGTGCCAAGTTCTAAGAGTCCAGGCTCCTGCCTGGCCCAGTCCAGTAGAGGCAATGTGATTATCCCCATATTAAAGAGAGGTTGGCCGGGTGCAGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAAGCTGAGGCAGGTGGATCACCTGAGGTCAGGAGTTCGAGACCAGCCTGGCCAACATGGTGAAACCCCATCTCTACTGAAAATACAGAATTAGCTGTGTGGTGGTGCACGCCTGTAATCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATCGCTTGAACCCGGGAGGTGGAGGTTGCAGTGAGCTGAGATCATGCCACTGCACTCCAGCCTGGGCGACACAGCAAGACTCTGTCTCAAACAAACAAACAAACAAACAAACAAAGGGGTTAACAGAGCCCCTAAGTCACATAAGTGTGCAAGTCAGAACAAGGCCTTGGTCTCCTGTCTCAGACTCCCAGCCCCTGGAGCATCCTGATTTCAGGGTTCCCACCTAGCCCTTTGCTACCACATCCTCCTCCTCCTCCCAGGTGGTGACTGTGGCGGTGTACAGCTTCTTCCTGACTTGTCTAGTTGGGCGGCAGTTTCTGAACCCAGCCAAGGCCTACCCTGGCCATGAGCTGGACCTCGTTGTGCCCGTCTTCACGTTCCTGCAGTTCTTCTTCTATGTTGGCTGGCTGAAGGTGGGCCTCTCCAGGGCCCTGCTGGGCTGGAGGCATGGCCAGAGGGGTCATGGCCAGCAGCTGCCTGAGACGAGGATGCAGTGTCAGGAAAGGAAGGTCTCACGGGTAGAAAGCAGCCAGGCGTGGTGGCGCACACCTGTAATCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATCGCTTGAACCCGGGAGGCGGAGGTTGTGGTGAGTTGAGATCGTGCCACTGCACTCCAGCCTGGGCAAAAGAATGAAACTCTATCTCAAAAACAACAACAACAACAAAACAAAGCCCTAAGGTTCAGAAGCCCCTGCCCTTTAGAAGGCAGATCGGCACCACCTCTCCTTATTCAAGATGCCTGTTGGGCTGTCTTGTTCCTCACCTCAAGTGGCTTGTCCAGGTATTCCCTCCCACCACAGCCAATACTCCGAACAGATGTTCTGAATCACACAGTTTTCTCTCCACCTCTTTATCTTTCCTTCCTTCTGTTGCCCACCCACTCTCTCTCCCTTCCTACCTTCCTTTATTTTTTGGTAATGGGGGTGTAAGTCTCTGTCTCTGCCCTTCCTGTCACTGTGACACACACACACACACACACACACACACACACATACACACACACACACACGCATTCCTATTCCTCTAAATTCCCCCTGCCCCCCCAGTTATCTTTGGTTTCTGCAGATCAAAACAAATCACACTTTTATGCTTGAAATTCTCCGGGGTGCCCCAGTGGCCTGCAAGATGTCCCCTGGACCCCTAAGGCAGACGCGTGTCACCTCTTCGGGGCTTTGTTAGGGCATTTTAGAGGTTGCTATCCAGGAATCTGCCCACCTAGACTGCCCTTTAGTTCAGCCCAGCTTCAGTATATATCTCTGTTGCATGAATGAATAAAATTATGCAACTCCAGGTAAGATACATGAGGTGAGATAAAGGCAGTGACTCAGCCGAGTGATACACTCAGGGACAGCTGTGGGTGTTCAGGGAAGGACTGGCTCAGAAGAGTTAGAGGGGCTGTGTCCAGAAGTGTGTGGGTGCCCACAAGTGTGGGGGGCTGGAGCCCTAAACTCTGCCTTTGAAGACAGTGGTCAGGCAGGAAGGGCGTCATGGGGTGTGGAAATAGCAGCAGCTGAGGTTTAAAGGGGGAAGCTGGCTTTGAGGAGTTCTGCCTGAGGGTTTACAGAGCCTCACCTGTCCCCAAGGTGGCAGAGCAGCTCATCAACCCCTTTGGAGAGGATGATGATGATTTTGAGACCAACTGGATTGTCGACAGGAATTTGCAGGTATGGGGAGAGGGAGAGAAACCATACCATGGACCTTCCCCAAAGTGGACCCAAAGAGAGGACCCCACTGTTCTGTAGGGAGGCCTCACAGTGAATGATCAACCCTTCCCCTCCTCCCTCCTGCAGCCAGTCATTCACTCACAGGATTCTCACCTCAATCTTTGAGGCTGCAGGCAGGCACCCATCTCCCCATTTCACAGGCAGGGAAACTGAGGTCCAGAGAGAGGGAGAGATTCCTCCAAGTCATCAGGCACATACAAGGTCCTGCCTGGGATGATCTTTCTGTGGGACTTCTTCTGTCCCTGGTGACCAGGTGTCCCTGTTGGCTGTGGATGAGATGCACCAGGACCTGCCTCGGATGGAGCCGGACATGTACTGGAATAAGCCCGAGCCACAGCCCCCCTACACAGCTGCTTCCGCCCAGTTCCGTCGAGCCTCCTTTATGGGCTCCACCTTCAACATCAGGTGTGGCCAGAGCCAGGGGGCTGGGTGGGAAGCCCCTCCTAGTGCAGGGGTCTGCCTAGGAACTTAGAATAGCACTAGTTAATGCATACAGGTTGCTTCAGTAAGTGTCAGGCACTGTACTATGCTCTTTATAAACATTAACTATTTTTTTCCTCCCAATAATTCTGGTTTGTTATCCCAAGTTTTCAGATAATTAAAGTACAGGTTCAGAGAGAGTAAGTTGTCCAAGGCCACATAGCTACCAAATGGTGCATTTGCTACTCGAAGGACAGCCTGTGATCAGTGATGCAGTGGAACGTTAGGACCTGGCTCTTGTCATCCAGAACTATGTTTTCTTTTCTTTTTGAGACAGTATCTCGCTCTGTCGCCCAGGTTGGAGCGCAGTGGCGTGATCTTGGCTCACTGCAACCTCCGCCTCCTGGGTTCAAGTGATTCTCCTGCTTCAGCCTCCCCAGTAGCTGGGATTACAGGTGCCCACAACCACAACTGGCTAATTTTTGTACTTTTAGTAGAGATGAGGTTTCACCATGTTGGCCAGGCTGGTCTCCAACTCCTGACCAGTAATCTGCCCGCTTTGGCCTCCCAAAATGCTGGAATTATAGGTGTCAAAACTATGTTTTCTGATAAGCTACGATGCTTGGATGGGAAGTGGAAGTGGGGTTCCCTGGGATGGGGGAGGGGCAGCAAAGTCCCAGCAGGCAGCCAGGCCATCACAGGTACCTCCTGAATTGACTTTGTCCTACCGAGTAAAGGGCTCAGGCCACCCACAGCAGCCAGACTTATCCCCACATGGTCCCACTTCCCTGATTCCATCTGAATCCCTCTTGAGCTGCAGTGGGCTGAAGGGCTATCCCAGCTGGTCCTTTCTCCCCAGGACAACAGAGTTGAAAGTGCCTTGGAGAGTGTTGGGCACATGTCAGGGTTCATACTCAAGGGTTTCTTCCACGGTATCCAGTGCTGTTCTCGCTTGTTCTTTTCTTTTTTTTTTTTTAAACGGAGTTTCACTCTTGTTGCCCAGAGCTGGAGTGCAGTGGCATAATCTCGGCTCACTGCAACCTCCGCCTCCCAGATTCAAGCAATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTATAGGTGCCAGCCACCAAGCCCGGCTAATTTTTGTATTTTTAGTAGAGACAGTTTCACCATGTTGGCCAGGCTGGTCTCGAACTCCTGACCTCAGGTGATCCACCCTCCTCAGCCTCCCAAAGTGCTGGGATTACATGTGTGAGCCACTGTGCCTGGCTGCTTGTTCTTTTAAGAACCAAATATCCTACTAGACTGCAATCGAGTTTAACTACAGTCTATAGATAGTGTGAGGAAGGGTTGGGAAGGTGATCAAATGAAGGCTGGAGGCTTGCTTAGGTCAGAAACATTTCTGGAGGATGACTTTGAGCCCTACATGGTCTGTACCCCAGCAGCTGAAGGTTGTTGAGGGGTGGGGAGGGCTGAAAACAGAACGATAAAGCATAGACCTTGTCTCCAAGG
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ACAGGTGAGGACTAGGCTGGTGAGGCTGCCCTTTTGGGAAACTGAGGCTAGAAGGACCAAGGAAGCAGCTGGGGTGGGAAGGGCTCACCTAGAGGCTAAGTGGCTCCCCTGGGAGTTGGGTCCACACTTTGAAGTTGGGTCTGGACTTTGAAGTGCCAAGTTCTAAGAGTCCAGGCTCCTGCCTGGCCCAGTCCAGTAGAGGCAATGTGATTATCCCCATATTAAAGAGAGGTTGGCCGGGTGCAGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAAGCTGAGGCAGGTGGATCACCTGAGGTCAGGAGTTCGAGACCAGCCTGGCCAACATGGTGAAACCCCATCTCTACTGAAAATACAGAATTAGCTGTGTGGTGGTGCACGCCTGTAATCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATCGCTTGAACCCGGGAGGTGGAGGTTGCAGTGAGCTGAGATCATGCCACTGCACTCCAGCCTGGGCGACACAGCAAGACTCTGTCTCAAACAAACAAACAAACAAACAAACAAAGGGGTTAACAGAGCCCCTAAGTCACATAAGTGTGCAAGTCAGAACAAGGCCTTGGTCTCCTGTCTCAGACTCCCAGCCCCTGGAGCATCCTGATTTCAGGGTTCCCACCTAGCCCTTTGCTACCACATCCTCCTCCTCCTCCCAGGTGGTGACTGTGGCGGTGTACAGCTTCTTCCTGACTTGTCTAGTTGGGCGGCAGTTTCTGAACCCAGCCAAGGCCTACCCTGGCCATGAGCTGGACCTCGTTGTGCCCGTCTTCACGTTCCTGCAGTTCTTCTTCTATGTTGGCTGGCTGAAGGTGGGCCTCTCCAGGGCCCTGCTGGGCTGGAGGCATGGCCAGAGGGGTCATGGCCAGCAGCTGCCTGAGACGAGGATGCAGTGTCAGGAAAGGAAGGTCTCACGGGTAGAAAGCAGCCAGGCGTGGTGGCGCACACCTGTAATCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATCGCTTGAACCCGGGAGGCGGAGGTTGTGGTGAGTTGAGATCGTGCCACTGCACTCCAGCCTGGGCAAAAGAATGAAACTCTATCTCAAAAACAACAACAACAACAAAACAAAGCCCTAAGGTTCAGAAGCCCCTGCCCTTTAGAAGGCAGATCGGCACCACCTCTCCTTATTCAAGATGCCTGTTGGGCTGTCTTGTTCCTCACCTCAAGTGGCTTGTCCAGGTATTCCCTCCCACCACAGCCAATACTCCGAACAGATGTTCTGAATCACACAGTTTTCTCTCCACCTCTTTATCTTTCCTTCCTTCTGTTGCCCACCCACTCTCTCTCCCTTCCTACCTTCCTTTATTTTTTGGTAATGGGGGTGTAAGTCTCTGTCTCTGCCCTTCCTGTCACTGTGACACACACACACACACACACACACACACACACATACACACACACACACACGCATTCCTATTCCTCTAAATTCCCCCTGCCCCCCCAGTTATCTTTGGTTTCTGCAGATCAAAACAAATCACACTTTTATGCTTGAAATTCTCCGGGGTGCCCCAGTGGCCTGCAAGATGTCCCCTGGACCCCTAAGGCAGACGCGTGTCACCTCTTCGGGGCTTTGTTAGGGCATTTTAGAGGTTGCTATCCAGGAATCTGCCCACCTAGACTGCCCTTTAGTTCAGCCCAGCTTCAGTATATATCTCTGTTGCATGAATGAATAAAATTATGCAACTCCAGGTAAGATACATGAGGTGAGATAAAGGCAGTGACTCAGCCGAGTGATACACTCAGGGACAGCTGTGGGTGTTCAGGGAAGGACTGGCTCAGAAGAGTTAGAGGGGCTGTGTCCAGAAGTGTGTGGGTGCCCACAAGTGTGGGGGGCTGGAGCCCTAAACTCTGCCTTTGAAGACAGTGGTCAGGCAGGAAGGGCGTCATGGGGTGTGGAAATAGCAGCAGCTGAGGTTTAAAGGGGGAAGCTGGCTTTGAGGAGTTCTGCCTGAGGGTTTACAGAGCCTCACCTGTCCCCAAGGTGGCAGAGCACCTCATCAACCCCTTTGGAGAGGATGATGATGATTTTGAGACCAACTGGATTGTCGACAGGAATTTGCAGGTATGGGGAGAGGGAGAGAAACCATACCATGGACCTTCCCCAAAGTGGACCCAAAGAGAGGACCCCACTGTTCTGTAGGGAGGCCTCACAGTGAATGATCAACCCTTCCCCTCCTCCCTCCTGCAGCCAGTCATTCACTCACAGGATTCTCACCTCAATCTTTGAGGCTGCAGGCAGGCACCCATCTCCCCATTTCACAGGCAGGGAAACTGAGGTCCAGAGAGAGGGAGAGATTCCTCCAAGTCATCAGGCACATACAAGGTCCTGCCTGGGATGATCTTTCTGTGGGACTTCTTCTGTCCCTGGTGACCAGGTGTCCCTGTTGGCTGTGGATGAGATGCACCAGGACCTGCCTCGGATGGAGCCGGACATGTACTGGAATAAGCCCGAGCCACAGCCCCCCTACACAGCTGCTTCCGCCCAGTTCCGTCGAGCCTCCTTTATGGGCTCCACCTTCAACATCAGGTGTGGCCAGAGCCAGGGGGCTGGGTGGGAAGCCCCTCCTAGTGCAGGGGTCTGCCTAGGAACTTAGAATAGCACTAGTTAATGCATACAGGTTGCTTCAGTAAGTGTCAGGCACTGTACTATGCTCTTTATAAACATTAACTATTTTTTTCCTCCCAATAATTCTGGTTTGTTATCCCAAGTTTTCAGATAATTAAAGTACAGGTTCAGAGAGAGTAAGTTGTCCAAGGCCACATAGCTACCAAATGGTGCATTTGCTACTCGAAGGACAGCCTGTGATCAGTGATGCAGTGGAACGTTAGGACCTGGCTCTTGTCATCCAGAACTATGTTTTCTTTTCTTTTTGAGACAGTATCTCGCTCTGTCGCCCAGGTTGGAGCGCAGTGGCGTGATCTTGGCTCACTGCAACCTCCGCCTCCTGGGTTCAAGTGATTCTCCTGCTTCAGCCTCCCCAGTAGCTGGGATTACAGGTGCCCACAACCACAACTGGCTAATTTTTGTACTTTTAGTAGAGATGAGGTTTCACCATGTTGGCCAGGCTGGTCTCCAACTCCTGACCAGTAATCTGCCCGCTTTGGCCTCCCAAAATGCTGGAATTATAGGTGTCAAAACTATGTTTTCTGATAAGCTACGATGCTTGGATGGGAAGTGGAAGTGGGGTTCCCTGGGATGGGGGAGGGGCAGCAAAGTCCCAGCAGGCAGCCAGGCCATCACAGGTACCTCCTGAATTGACTTTGTCCTACCGAGTAAAGGGCTCAGGCCACCCACAGCAGCCAGACTTATCCCCACATGGTCCCACTTCCCTGATTCCATCTGAATCCCTCTTGAGCTGCAGTGGGCTGAAGGGCTATCCCAGCTGGTCCTTTCTCCCCAGGACAACAGAGTTGAAAGTGCCTTGGAGAGTGTTGGGCACATGTCAGGGTTCATACTCAAGGGTTTCTTCCACGGTATCCAGTGCTGTTCTCGCTTGTTCTTTTCTTTTTTTTTTTTTAAACGGAGTTTCACTCTTGTTGCCCAGAGCTGGAGTGCAGTGGCATAATCTCGGCTCACTGCAACCTCCGCCTCCCAGATTCAAGCAATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTATAGGTGCCAGCCACCAAGCCCGGCTAATTTTTGTATTTTTAGTAGAGACAGTTTCACCATGTTGGCCAGGCTGGTCTCGAACTCCTGACCTCAGGTGATCCACCCTCCTCAGCCTCCCAAAGTGCTGGGATTACATGTGTGAGCCACTGTGCCTGGCTGCTTGTTCTTTTAAGAACCAAATATCCTACTAGACTGCAATCGAGTTTAACTACAGTCTATAGATAGTGTGAGGAAGGGTTGGGAAGGTGATCAAATGAAGGCTGGAGGCTTGCTTAGGTCAGAAACATTTCTGGAGGATGACTTTGAGCCCTACATGGTCTGTACCCCAGCAGCTGAAGGTTGTTGAGGGGTGGGGAGGGCTGAAAACAGAACGATAAAGCATAGACCTTGTCTCCAAGG
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Task1_train_15939
|
Assess the clinical impact of this variant on gene BEST1 (bestrophin 1), found on Chromosome 11. State whether it’s pathogenic or benign, and the disease if applicable.
|
Pathogenic; not provided
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GTGAGGACTAGGCTGGTGAGGCTGCCCTTTTGGGAAACTGAGGCTAGAAGGACCAAGGAAGCAGCTGGGGTGGGAAGGGCTCACCTAGAGGCTAAGTGGCTCCCCTGGGAGTTGGGTCCACACTTTGAAGTTGGGTCTGGACTTTGAAGTGCCAAGTTCTAAGAGTCCAGGCTCCTGCCTGGCCCAGTCCAGTAGAGGCAATGTGATTATCCCCATATTAAAGAGAGGTTGGCCGGGTGCAGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAAGCTGAGGCAGGTGGATCACCTGAGGTCAGGAGTTCGAGACCAGCCTGGCCAACATGGTGAAACCCCATCTCTACTGAAAATACAGAATTAGCTGTGTGGTGGTGCACGCCTGTAATCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATCGCTTGAACCCGGGAGGTGGAGGTTGCAGTGAGCTGAGATCATGCCACTGCACTCCAGCCTGGGCGACACAGCAAGACTCTGTCTCAAACAAACAAACAAACAAACAAACAAAGGGGTTAACAGAGCCCCTAAGTCACATAAGTGTGCAAGTCAGAACAAGGCCTTGGTCTCCTGTCTCAGACTCCCAGCCCCTGGAGCATCCTGATTTCAGGGTTCCCACCTAGCCCTTTGCTACCACATCCTCCTCCTCCTCCCAGGTGGTGACTGTGGCGGTGTACAGCTTCTTCCTGACTTGTCTAGTTGGGCGGCAGTTTCTGAACCCAGCCAAGGCCTACCCTGGCCATGAGCTGGACCTCGTTGTGCCCGTCTTCACGTTCCTGCAGTTCTTCTTCTATGTTGGCTGGCTGAAGGTGGGCCTCTCCAGGGCCCTGCTGGGCTGGAGGCATGGCCAGAGGGGTCATGGCCAGCAGCTGCCTGAGACGAGGATGCAGTGTCAGGAAAGGAAGGTCTCACGGGTAGAAAGCAGCCAGGCGTGGTGGCGCACACCTGTAATCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATCGCTTGAACCCGGGAGGCGGAGGTTGTGGTGAGTTGAGATCGTGCCACTGCACTCCAGCCTGGGCAAAAGAATGAAACTCTATCTCAAAAACAACAACAACAACAAAACAAAGCCCTAAGGTTCAGAAGCCCCTGCCCTTTAGAAGGCAGATCGGCACCACCTCTCCTTATTCAAGATGCCTGTTGGGCTGTCTTGTTCCTCACCTCAAGTGGCTTGTCCAGGTATTCCCTCCCACCACAGCCAATACTCCGAACAGATGTTCTGAATCACACAGTTTTCTCTCCACCTCTTTATCTTTCCTTCCTTCTGTTGCCCACCCACTCTCTCTCCCTTCCTACCTTCCTTTATTTTTTGGTAATGGGGGTGTAAGTCTCTGTCTCTGCCCTTCCTGTCACTGTGACACACACACACACACACACACACACACACACATACACACACACACACACGCATTCCTATTCCTCTAAATTCCCCCTGCCCCCCCAGTTATCTTTGGTTTCTGCAGATCAAAACAAATCACACTTTTATGCTTGAAATTCTCCGGGGTGCCCCAGTGGCCTGCAAGATGTCCCCTGGACCCCTAAGGCAGACGCGTGTCACCTCTTCGGGGCTTTGTTAGGGCATTTTAGAGGTTGCTATCCAGGAATCTGCCCACCTAGACTGCCCTTTAGTTCAGCCCAGCTTCAGTATATATCTCTGTTGCATGAATGAATAAAATTATGCAACTCCAGGTAAGATACATGAGGTGAGATAAAGGCAGTGACTCAGCCGAGTGATACACTCAGGGACAGCTGTGGGTGTTCAGGGAAGGACTGGCTCAGAAGAGTTAGAGGGGCTGTGTCCAGAAGTGTGTGGGTGCCCACAAGTGTGGGGGGCTGGAGCCCTAAACTCTGCCTTTGAAGACAGTGGTCAGGCAGGAAGGGCGTCATGGGGTGTGGAAATAGCAGCAGCTGAGGTTTAAAGGGGGAAGCTGGCTTTGAGGAGTTCTGCCTGAGGGTTTACAGAGCCTCACCTGTCCCCAAGGTGGCAGAGCAGCTCATCAACCCCTTTGGAGAGGATGATGATGATTTTGAGACCAACTGGATTGTCGACAGGAATTTGCAGGTATGGGGAGAGGGAGAGAAACCATACCATGGACCTTCCCCAAAGTGGACCCAAAGAGAGGACCCCACTGTTCTGTAGGGAGGCCTCACAGTGAATGATCAACCCTTCCCCTCCTCCCTCCTGCAGCCAGTCATTCACTCACAGGATTCTCACCTCAATCTTTGAGGCTGCAGGCAGGCACCCATCTCCCCATTTCACAGGCAGGGAAACTGAGGTCCAGAGAGAGGGAGAGATTCCTCCAAGTCATCAGGCACATACAAGGTCCTGCCTGGGATGATCTTTCTGTGGGACTTCTTCTGTCCCTGGTGACCAGGTGTCCCTGTTGGCTGTGGATGAGATGCACCAGGACCTGCCTCGGATGGAGCCGGACATGTACTGGAATAAGCCCGAGCCACAGCCCCCCTACACAGCTGCTTCCGCCCAGTTCCGTCGAGCCTCCTTTATGGGCTCCACCTTCAACATCAGGTGTGGCCAGAGCCAGGGGGCTGGGTGGGAAGCCCCTCCTAGTGCAGGGGTCTGCCTAGGAACTTAGAATAGCACTAGTTAATGCATACAGGTTGCTTCAGTAAGTGTCAGGCACTGTACTATGCTCTTTATAAACATTAACTATTTTTTTCCTCCCAATAATTCTGGTTTGTTATCCCAAGTTTTCAGATAATTAAAGTACAGGTTCAGAGAGAGTAAGTTGTCCAAGGCCACATAGCTACCAAATGGTGCATTTGCTACTCGAAGGACAGCCTGTGATCAGTGATGCAGTGGAACGTTAGGACCTGGCTCTTGTCATCCAGAACTATGTTTTCTTTTCTTTTTGAGACAGTATCTCGCTCTGTCGCCCAGGTTGGAGCGCAGTGGCGTGATCTTGGCTCACTGCAACCTCCGCCTCCTGGGTTCAAGTGATTCTCCTGCTTCAGCCTCCCCAGTAGCTGGGATTACAGGTGCCCACAACCACAACTGGCTAATTTTTGTACTTTTAGTAGAGATGAGGTTTCACCATGTTGGCCAGGCTGGTCTCCAACTCCTGACCAGTAATCTGCCCGCTTTGGCCTCCCAAAATGCTGGAATTATAGGTGTCAAAACTATGTTTTCTGATAAGCTACGATGCTTGGATGGGAAGTGGAAGTGGGGTTCCCTGGGATGGGGGAGGGGCAGCAAAGTCCCAGCAGGCAGCCAGGCCATCACAGGTACCTCCTGAATTGACTTTGTCCTACCGAGTAAAGGGCTCAGGCCACCCACAGCAGCCAGACTTATCCCCACATGGTCCCACTTCCCTGATTCCATCTGAATCCCTCTTGAGCTGCAGTGGGCTGAAGGGCTATCCCAGCTGGTCCTTTCTCCCCAGGACAACAGAGTTGAAAGTGCCTTGGAGAGTGTTGGGCACATGTCAGGGTTCATACTCAAGGGTTTCTTCCACGGTATCCAGTGCTGTTCTCGCTTGTTCTTTTCTTTTTTTTTTTTTAAACGGAGTTTCACTCTTGTTGCCCAGAGCTGGAGTGCAGTGGCATAATCTCGGCTCACTGCAACCTCCGCCTCCCAGATTCAAGCAATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTATAGGTGCCAGCCACCAAGCCCGGCTAATTTTTGTATTTTTAGTAGAGACAGTTTCACCATGTTGGCCAGGCTGGTCTCGAACTCCTGACCTCAGGTGATCCACCCTCCTCAGCCTCCCAAAGTGCTGGGATTACATGTGTGAGCCACTGTGCCTGGCTGCTTGTTCTTTTAAGAACCAAATATCCTACTAGACTGCAATCGAGTTTAACTACAGTCTATAGATAGTGTGAGGAAGGGTTGGGAAGGTGATCAAATGAAGGCTGGAGGCTTGCTTAGGTCAGAAACATTTCTGGAGGATGACTTTGAGCCCTACATGGTCTGTACCCCAGCAGCTGAAGGTTGTTGAGGGGTGGGGAGGGCTGAAAACAGAACGATAAAGCATAGACCTTGTCTCCAAGGAATG
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GTGAGGACTAGGCTGGTGAGGCTGCCCTTTTGGGAAACTGAGGCTAGAAGGACCAAGGAAGCAGCTGGGGTGGGAAGGGCTCACCTAGAGGCTAAGTGGCTCCCCTGGGAGTTGGGTCCACACTTTGAAGTTGGGTCTGGACTTTGAAGTGCCAAGTTCTAAGAGTCCAGGCTCCTGCCTGGCCCAGTCCAGTAGAGGCAATGTGATTATCCCCATATTAAAGAGAGGTTGGCCGGGTGCAGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAAGCTGAGGCAGGTGGATCACCTGAGGTCAGGAGTTCGAGACCAGCCTGGCCAACATGGTGAAACCCCATCTCTACTGAAAATACAGAATTAGCTGTGTGGTGGTGCACGCCTGTAATCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATCGCTTGAACCCGGGAGGTGGAGGTTGCAGTGAGCTGAGATCATGCCACTGCACTCCAGCCTGGGCGACACAGCAAGACTCTGTCTCAAACAAACAAACAAACAAACAAACAAAGGGGTTAACAGAGCCCCTAAGTCACATAAGTGTGCAAGTCAGAACAAGGCCTTGGTCTCCTGTCTCAGACTCCCAGCCCCTGGAGCATCCTGATTTCAGGGTTCCCACCTAGCCCTTTGCTACCACATCCTCCTCCTCCTCCCAGGTGGTGACTGTGGCGGTGTACAGCTTCTTCCTGACTTGTCTAGTTGGGCGGCAGTTTCTGAACCCAGCCAAGGCCTACCCTGGCCATGAGCTGGACCTCGTTGTGCCCGTCTTCACGTTCCTGCAGTTCTTCTTCTATGTTGGCTGGCTGAAGGTGGGCCTCTCCAGGGCCCTGCTGGGCTGGAGGCATGGCCAGAGGGGTCATGGCCAGCAGCTGCCTGAGACGAGGATGCAGTGTCAGGAAAGGAAGGTCTCACGGGTAGAAAGCAGCCAGGCGTGGTGGCGCACACCTGTAATCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATCGCTTGAACCCGGGAGGCGGAGGTTGTGGTGAGTTGAGATCGTGCCACTGCACTCCAGCCTGGGCAAAAGAATGAAACTCTATCTCAAAAACAACAACAACAACAAAACAAAGCCCTAAGGTTCAGAAGCCCCTGCCCTTTAGAAGGCAGATCGGCACCACCTCTCCTTATTCAAGATGCCTGTTGGGCTGTCTTGTTCCTCACCTCAAGTGGCTTGTCCAGGTATTCCCTCCCACCACAGCCAATACTCCGAACAGATGTTCTGAATCACACAGTTTTCTCTCCACCTCTTTATCTTTCCTTCCTTCTGTTGCCCACCCACTCTCTCTCCCTTCCTACCTTCCTTTATTTTTTGGTAATGGGGGTGTAAGTCTCTGTCTCTGCCCTTCCTGTCACTGTGACACACACACACACACACACACACACACACACATACACACACACACACACGCATTCCTATTCCTCTAAATTCCCCCTGCCCCCCCAGTTATCTTTGGTTTCTGCAGATCAAAACAAATCACACTTTTATGCTTGAAATTCTCCGGGGTGCCCCAGTGGCCTGCAAGATGTCCCCTGGACCCCTAAGGCAGACGCGTGTCACCTCTTCGGGGCTTTGTTAGGGCATTTTAGAGGTTGCTATCCAGGAATCTGCCCACCTAGACTGCCCTTTAGTTCAGCCCAGCTTCAGTATATATCTCTGTTGCATGAATGAATAAAATTATGCAACTCCAGGTAAGATACATGAGGTGAGATAAAGGCAGTGACTCAGCCGAGTGATACACTCAGGGACAGCTGTGGGTGTTCAGGGAAGGACTGGCTCAGAAGAGTTAGAGGGGCTGTGTCCAGAAGTGTGTGGGTGCCCACAAGTGTGGGGGGCTGGAGCCCTAAACTCTGCCTTTGAAGACAGTGGTCAGGCAGGAAGGGCGTCATGGGGTGTGGAAATAGCAGCAGCTGAGGTTTAAAGGGGGAAGCTGGCTTTGAGGAGTTCTGCCTGAGGGTTTACAGAGCCTCACCTGTCCCCAAGGTGGCAGAGCAGCTCCTCAACCCCTTTGGAGAGGATGATGATGATTTTGAGACCAACTGGATTGTCGACAGGAATTTGCAGGTATGGGGAGAGGGAGAGAAACCATACCATGGACCTTCCCCAAAGTGGACCCAAAGAGAGGACCCCACTGTTCTGTAGGGAGGCCTCACAGTGAATGATCAACCCTTCCCCTCCTCCCTCCTGCAGCCAGTCATTCACTCACAGGATTCTCACCTCAATCTTTGAGGCTGCAGGCAGGCACCCATCTCCCCATTTCACAGGCAGGGAAACTGAGGTCCAGAGAGAGGGAGAGATTCCTCCAAGTCATCAGGCACATACAAGGTCCTGCCTGGGATGATCTTTCTGTGGGACTTCTTCTGTCCCTGGTGACCAGGTGTCCCTGTTGGCTGTGGATGAGATGCACCAGGACCTGCCTCGGATGGAGCCGGACATGTACTGGAATAAGCCCGAGCCACAGCCCCCCTACACAGCTGCTTCCGCCCAGTTCCGTCGAGCCTCCTTTATGGGCTCCACCTTCAACATCAGGTGTGGCCAGAGCCAGGGGGCTGGGTGGGAAGCCCCTCCTAGTGCAGGGGTCTGCCTAGGAACTTAGAATAGCACTAGTTAATGCATACAGGTTGCTTCAGTAAGTGTCAGGCACTGTACTATGCTCTTTATAAACATTAACTATTTTTTTCCTCCCAATAATTCTGGTTTGTTATCCCAAGTTTTCAGATAATTAAAGTACAGGTTCAGAGAGAGTAAGTTGTCCAAGGCCACATAGCTACCAAATGGTGCATTTGCTACTCGAAGGACAGCCTGTGATCAGTGATGCAGTGGAACGTTAGGACCTGGCTCTTGTCATCCAGAACTATGTTTTCTTTTCTTTTTGAGACAGTATCTCGCTCTGTCGCCCAGGTTGGAGCGCAGTGGCGTGATCTTGGCTCACTGCAACCTCCGCCTCCTGGGTTCAAGTGATTCTCCTGCTTCAGCCTCCCCAGTAGCTGGGATTACAGGTGCCCACAACCACAACTGGCTAATTTTTGTACTTTTAGTAGAGATGAGGTTTCACCATGTTGGCCAGGCTGGTCTCCAACTCCTGACCAGTAATCTGCCCGCTTTGGCCTCCCAAAATGCTGGAATTATAGGTGTCAAAACTATGTTTTCTGATAAGCTACGATGCTTGGATGGGAAGTGGAAGTGGGGTTCCCTGGGATGGGGGAGGGGCAGCAAAGTCCCAGCAGGCAGCCAGGCCATCACAGGTACCTCCTGAATTGACTTTGTCCTACCGAGTAAAGGGCTCAGGCCACCCACAGCAGCCAGACTTATCCCCACATGGTCCCACTTCCCTGATTCCATCTGAATCCCTCTTGAGCTGCAGTGGGCTGAAGGGCTATCCCAGCTGGTCCTTTCTCCCCAGGACAACAGAGTTGAAAGTGCCTTGGAGAGTGTTGGGCACATGTCAGGGTTCATACTCAAGGGTTTCTTCCACGGTATCCAGTGCTGTTCTCGCTTGTTCTTTTCTTTTTTTTTTTTTAAACGGAGTTTCACTCTTGTTGCCCAGAGCTGGAGTGCAGTGGCATAATCTCGGCTCACTGCAACCTCCGCCTCCCAGATTCAAGCAATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTATAGGTGCCAGCCACCAAGCCCGGCTAATTTTTGTATTTTTAGTAGAGACAGTTTCACCATGTTGGCCAGGCTGGTCTCGAACTCCTGACCTCAGGTGATCCACCCTCCTCAGCCTCCCAAAGTGCTGGGATTACATGTGTGAGCCACTGTGCCTGGCTGCTTGTTCTTTTAAGAACCAAATATCCTACTAGACTGCAATCGAGTTTAACTACAGTCTATAGATAGTGTGAGGAAGGGTTGGGAAGGTGATCAAATGAAGGCTGGAGGCTTGCTTAGGTCAGAAACATTTCTGGAGGATGACTTTGAGCCCTACATGGTCTGTACCCCAGCAGCTGAAGGTTGTTGAGGGGTGGGGAGGGCTGAAAACAGAACGATAAAGCATAGACCTTGTCTCCAAGGAATG
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Task1_train_15940
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Here’s a variant in BEST1 (bestrophin 1) located on Chromosome 11. What is the predicted biological effect — harmless or disease-causing?
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Pathogenic; Retinal dystrophy
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TGAGGACTAGGCTGGTGAGGCTGCCCTTTTGGGAAACTGAGGCTAGAAGGACCAAGGAAGCAGCTGGGGTGGGAAGGGCTCACCTAGAGGCTAAGTGGCTCCCCTGGGAGTTGGGTCCACACTTTGAAGTTGGGTCTGGACTTTGAAGTGCCAAGTTCTAAGAGTCCAGGCTCCTGCCTGGCCCAGTCCAGTAGAGGCAATGTGATTATCCCCATATTAAAGAGAGGTTGGCCGGGTGCAGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAAGCTGAGGCAGGTGGATCACCTGAGGTCAGGAGTTCGAGACCAGCCTGGCCAACATGGTGAAACCCCATCTCTACTGAAAATACAGAATTAGCTGTGTGGTGGTGCACGCCTGTAATCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATCGCTTGAACCCGGGAGGTGGAGGTTGCAGTGAGCTGAGATCATGCCACTGCACTCCAGCCTGGGCGACACAGCAAGACTCTGTCTCAAACAAACAAACAAACAAACAAACAAAGGGGTTAACAGAGCCCCTAAGTCACATAAGTGTGCAAGTCAGAACAAGGCCTTGGTCTCCTGTCTCAGACTCCCAGCCCCTGGAGCATCCTGATTTCAGGGTTCCCACCTAGCCCTTTGCTACCACATCCTCCTCCTCCTCCCAGGTGGTGACTGTGGCGGTGTACAGCTTCTTCCTGACTTGTCTAGTTGGGCGGCAGTTTCTGAACCCAGCCAAGGCCTACCCTGGCCATGAGCTGGACCTCGTTGTGCCCGTCTTCACGTTCCTGCAGTTCTTCTTCTATGTTGGCTGGCTGAAGGTGGGCCTCTCCAGGGCCCTGCTGGGCTGGAGGCATGGCCAGAGGGGTCATGGCCAGCAGCTGCCTGAGACGAGGATGCAGTGTCAGGAAAGGAAGGTCTCACGGGTAGAAAGCAGCCAGGCGTGGTGGCGCACACCTGTAATCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATCGCTTGAACCCGGGAGGCGGAGGTTGTGGTGAGTTGAGATCGTGCCACTGCACTCCAGCCTGGGCAAAAGAATGAAACTCTATCTCAAAAACAACAACAACAACAAAACAAAGCCCTAAGGTTCAGAAGCCCCTGCCCTTTAGAAGGCAGATCGGCACCACCTCTCCTTATTCAAGATGCCTGTTGGGCTGTCTTGTTCCTCACCTCAAGTGGCTTGTCCAGGTATTCCCTCCCACCACAGCCAATACTCCGAACAGATGTTCTGAATCACACAGTTTTCTCTCCACCTCTTTATCTTTCCTTCCTTCTGTTGCCCACCCACTCTCTCTCCCTTCCTACCTTCCTTTATTTTTTGGTAATGGGGGTGTAAGTCTCTGTCTCTGCCCTTCCTGTCACTGTGACACACACACACACACACACACACACACACACATACACACACACACACACGCATTCCTATTCCTCTAAATTCCCCCTGCCCCCCCAGTTATCTTTGGTTTCTGCAGATCAAAACAAATCACACTTTTATGCTTGAAATTCTCCGGGGTGCCCCAGTGGCCTGCAAGATGTCCCCTGGACCCCTAAGGCAGACGCGTGTCACCTCTTCGGGGCTTTGTTAGGGCATTTTAGAGGTTGCTATCCAGGAATCTGCCCACCTAGACTGCCCTTTAGTTCAGCCCAGCTTCAGTATATATCTCTGTTGCATGAATGAATAAAATTATGCAACTCCAGGTAAGATACATGAGGTGAGATAAAGGCAGTGACTCAGCCGAGTGATACACTCAGGGACAGCTGTGGGTGTTCAGGGAAGGACTGGCTCAGAAGAGTTAGAGGGGCTGTGTCCAGAAGTGTGTGGGTGCCCACAAGTGTGGGGGGCTGGAGCCCTAAACTCTGCCTTTGAAGACAGTGGTCAGGCAGGAAGGGCGTCATGGGGTGTGGAAATAGCAGCAGCTGAGGTTTAAAGGGGGAAGCTGGCTTTGAGGAGTTCTGCCTGAGGGTTTACAGAGCCTCACCTGTCCCCAAGGTGGCAGAGCAGCTCATCAACCCCTTTGGAGAGGATGATGATGATTTTGAGACCAACTGGATTGTCGACAGGAATTTGCAGGTATGGGGAGAGGGAGAGAAACCATACCATGGACCTTCCCCAAAGTGGACCCAAAGAGAGGACCCCACTGTTCTGTAGGGAGGCCTCACAGTGAATGATCAACCCTTCCCCTCCTCCCTCCTGCAGCCAGTCATTCACTCACAGGATTCTCACCTCAATCTTTGAGGCTGCAGGCAGGCACCCATCTCCCCATTTCACAGGCAGGGAAACTGAGGTCCAGAGAGAGGGAGAGATTCCTCCAAGTCATCAGGCACATACAAGGTCCTGCCTGGGATGATCTTTCTGTGGGACTTCTTCTGTCCCTGGTGACCAGGTGTCCCTGTTGGCTGTGGATGAGATGCACCAGGACCTGCCTCGGATGGAGCCGGACATGTACTGGAATAAGCCCGAGCCACAGCCCCCCTACACAGCTGCTTCCGCCCAGTTCCGTCGAGCCTCCTTTATGGGCTCCACCTTCAACATCAGGTGTGGCCAGAGCCAGGGGGCTGGGTGGGAAGCCCCTCCTAGTGCAGGGGTCTGCCTAGGAACTTAGAATAGCACTAGTTAATGCATACAGGTTGCTTCAGTAAGTGTCAGGCACTGTACTATGCTCTTTATAAACATTAACTATTTTTTTCCTCCCAATAATTCTGGTTTGTTATCCCAAGTTTTCAGATAATTAAAGTACAGGTTCAGAGAGAGTAAGTTGTCCAAGGCCACATAGCTACCAAATGGTGCATTTGCTACTCGAAGGACAGCCTGTGATCAGTGATGCAGTGGAACGTTAGGACCTGGCTCTTGTCATCCAGAACTATGTTTTCTTTTCTTTTTGAGACAGTATCTCGCTCTGTCGCCCAGGTTGGAGCGCAGTGGCGTGATCTTGGCTCACTGCAACCTCCGCCTCCTGGGTTCAAGTGATTCTCCTGCTTCAGCCTCCCCAGTAGCTGGGATTACAGGTGCCCACAACCACAACTGGCTAATTTTTGTACTTTTAGTAGAGATGAGGTTTCACCATGTTGGCCAGGCTGGTCTCCAACTCCTGACCAGTAATCTGCCCGCTTTGGCCTCCCAAAATGCTGGAATTATAGGTGTCAAAACTATGTTTTCTGATAAGCTACGATGCTTGGATGGGAAGTGGAAGTGGGGTTCCCTGGGATGGGGGAGGGGCAGCAAAGTCCCAGCAGGCAGCCAGGCCATCACAGGTACCTCCTGAATTGACTTTGTCCTACCGAGTAAAGGGCTCAGGCCACCCACAGCAGCCAGACTTATCCCCACATGGTCCCACTTCCCTGATTCCATCTGAATCCCTCTTGAGCTGCAGTGGGCTGAAGGGCTATCCCAGCTGGTCCTTTCTCCCCAGGACAACAGAGTTGAAAGTGCCTTGGAGAGTGTTGGGCACATGTCAGGGTTCATACTCAAGGGTTTCTTCCACGGTATCCAGTGCTGTTCTCGCTTGTTCTTTTCTTTTTTTTTTTTTAAACGGAGTTTCACTCTTGTTGCCCAGAGCTGGAGTGCAGTGGCATAATCTCGGCTCACTGCAACCTCCGCCTCCCAGATTCAAGCAATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTATAGGTGCCAGCCACCAAGCCCGGCTAATTTTTGTATTTTTAGTAGAGACAGTTTCACCATGTTGGCCAGGCTGGTCTCGAACTCCTGACCTCAGGTGATCCACCCTCCTCAGCCTCCCAAAGTGCTGGGATTACATGTGTGAGCCACTGTGCCTGGCTGCTTGTTCTTTTAAGAACCAAATATCCTACTAGACTGCAATCGAGTTTAACTACAGTCTATAGATAGTGTGAGGAAGGGTTGGGAAGGTGATCAAATGAAGGCTGGAGGCTTGCTTAGGTCAGAAACATTTCTGGAGGATGACTTTGAGCCCTACATGGTCTGTACCCCAGCAGCTGAAGGTTGTTGAGGGGTGGGGAGGGCTGAAAACAGAACGATAAAGCATAGACCTTGTCTCCAAGGAATGC
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TGAGGACTAGGCTGGTGAGGCTGCCCTTTTGGGAAACTGAGGCTAGAAGGACCAAGGAAGCAGCTGGGGTGGGAAGGGCTCACCTAGAGGCTAAGTGGCTCCCCTGGGAGTTGGGTCCACACTTTGAAGTTGGGTCTGGACTTTGAAGTGCCAAGTTCTAAGAGTCCAGGCTCCTGCCTGGCCCAGTCCAGTAGAGGCAATGTGATTATCCCCATATTAAAGAGAGGTTGGCCGGGTGCAGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAAGCTGAGGCAGGTGGATCACCTGAGGTCAGGAGTTCGAGACCAGCCTGGCCAACATGGTGAAACCCCATCTCTACTGAAAATACAGAATTAGCTGTGTGGTGGTGCACGCCTGTAATCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATCGCTTGAACCCGGGAGGTGGAGGTTGCAGTGAGCTGAGATCATGCCACTGCACTCCAGCCTGGGCGACACAGCAAGACTCTGTCTCAAACAAACAAACAAACAAACAAACAAAGGGGTTAACAGAGCCCCTAAGTCACATAAGTGTGCAAGTCAGAACAAGGCCTTGGTCTCCTGTCTCAGACTCCCAGCCCCTGGAGCATCCTGATTTCAGGGTTCCCACCTAGCCCTTTGCTACCACATCCTCCTCCTCCTCCCAGGTGGTGACTGTGGCGGTGTACAGCTTCTTCCTGACTTGTCTAGTTGGGCGGCAGTTTCTGAACCCAGCCAAGGCCTACCCTGGCCATGAGCTGGACCTCGTTGTGCCCGTCTTCACGTTCCTGCAGTTCTTCTTCTATGTTGGCTGGCTGAAGGTGGGCCTCTCCAGGGCCCTGCTGGGCTGGAGGCATGGCCAGAGGGGTCATGGCCAGCAGCTGCCTGAGACGAGGATGCAGTGTCAGGAAAGGAAGGTCTCACGGGTAGAAAGCAGCCAGGCGTGGTGGCGCACACCTGTAATCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATCGCTTGAACCCGGGAGGCGGAGGTTGTGGTGAGTTGAGATCGTGCCACTGCACTCCAGCCTGGGCAAAAGAATGAAACTCTATCTCAAAAACAACAACAACAACAAAACAAAGCCCTAAGGTTCAGAAGCCCCTGCCCTTTAGAAGGCAGATCGGCACCACCTCTCCTTATTCAAGATGCCTGTTGGGCTGTCTTGTTCCTCACCTCAAGTGGCTTGTCCAGGTATTCCCTCCCACCACAGCCAATACTCCGAACAGATGTTCTGAATCACACAGTTTTCTCTCCACCTCTTTATCTTTCCTTCCTTCTGTTGCCCACCCACTCTCTCTCCCTTCCTACCTTCCTTTATTTTTTGGTAATGGGGGTGTAAGTCTCTGTCTCTGCCCTTCCTGTCACTGTGACACACACACACACACACACACACACACACACATACACACACACACACACGCATTCCTATTCCTCTAAATTCCCCCTGCCCCCCCAGTTATCTTTGGTTTCTGCAGATCAAAACAAATCACACTTTTATGCTTGAAATTCTCCGGGGTGCCCCAGTGGCCTGCAAGATGTCCCCTGGACCCCTAAGGCAGACGCGTGTCACCTCTTCGGGGCTTTGTTAGGGCATTTTAGAGGTTGCTATCCAGGAATCTGCCCACCTAGACTGCCCTTTAGTTCAGCCCAGCTTCAGTATATATCTCTGTTGCATGAATGAATAAAATTATGCAACTCCAGGTAAGATACATGAGGTGAGATAAAGGCAGTGACTCAGCCGAGTGATACACTCAGGGACAGCTGTGGGTGTTCAGGGAAGGACTGGCTCAGAAGAGTTAGAGGGGCTGTGTCCAGAAGTGTGTGGGTGCCCACAAGTGTGGGGGGCTGGAGCCCTAAACTCTGCCTTTGAAGACAGTGGTCAGGCAGGAAGGGCGTCATGGGGTGTGGAAATAGCAGCAGCTGAGGTTTAAAGGGGGAAGCTGGCTTTGAGGAGTTCTGCCTGAGGGTTTACAGAGCCTCACCTGTCCCCAAGGTGGCAGAGCAGCTCACCAACCCCTTTGGAGAGGATGATGATGATTTTGAGACCAACTGGATTGTCGACAGGAATTTGCAGGTATGGGGAGAGGGAGAGAAACCATACCATGGACCTTCCCCAAAGTGGACCCAAAGAGAGGACCCCACTGTTCTGTAGGGAGGCCTCACAGTGAATGATCAACCCTTCCCCTCCTCCCTCCTGCAGCCAGTCATTCACTCACAGGATTCTCACCTCAATCTTTGAGGCTGCAGGCAGGCACCCATCTCCCCATTTCACAGGCAGGGAAACTGAGGTCCAGAGAGAGGGAGAGATTCCTCCAAGTCATCAGGCACATACAAGGTCCTGCCTGGGATGATCTTTCTGTGGGACTTCTTCTGTCCCTGGTGACCAGGTGTCCCTGTTGGCTGTGGATGAGATGCACCAGGACCTGCCTCGGATGGAGCCGGACATGTACTGGAATAAGCCCGAGCCACAGCCCCCCTACACAGCTGCTTCCGCCCAGTTCCGTCGAGCCTCCTTTATGGGCTCCACCTTCAACATCAGGTGTGGCCAGAGCCAGGGGGCTGGGTGGGAAGCCCCTCCTAGTGCAGGGGTCTGCCTAGGAACTTAGAATAGCACTAGTTAATGCATACAGGTTGCTTCAGTAAGTGTCAGGCACTGTACTATGCTCTTTATAAACATTAACTATTTTTTTCCTCCCAATAATTCTGGTTTGTTATCCCAAGTTTTCAGATAATTAAAGTACAGGTTCAGAGAGAGTAAGTTGTCCAAGGCCACATAGCTACCAAATGGTGCATTTGCTACTCGAAGGACAGCCTGTGATCAGTGATGCAGTGGAACGTTAGGACCTGGCTCTTGTCATCCAGAACTATGTTTTCTTTTCTTTTTGAGACAGTATCTCGCTCTGTCGCCCAGGTTGGAGCGCAGTGGCGTGATCTTGGCTCACTGCAACCTCCGCCTCCTGGGTTCAAGTGATTCTCCTGCTTCAGCCTCCCCAGTAGCTGGGATTACAGGTGCCCACAACCACAACTGGCTAATTTTTGTACTTTTAGTAGAGATGAGGTTTCACCATGTTGGCCAGGCTGGTCTCCAACTCCTGACCAGTAATCTGCCCGCTTTGGCCTCCCAAAATGCTGGAATTATAGGTGTCAAAACTATGTTTTCTGATAAGCTACGATGCTTGGATGGGAAGTGGAAGTGGGGTTCCCTGGGATGGGGGAGGGGCAGCAAAGTCCCAGCAGGCAGCCAGGCCATCACAGGTACCTCCTGAATTGACTTTGTCCTACCGAGTAAAGGGCTCAGGCCACCCACAGCAGCCAGACTTATCCCCACATGGTCCCACTTCCCTGATTCCATCTGAATCCCTCTTGAGCTGCAGTGGGCTGAAGGGCTATCCCAGCTGGTCCTTTCTCCCCAGGACAACAGAGTTGAAAGTGCCTTGGAGAGTGTTGGGCACATGTCAGGGTTCATACTCAAGGGTTTCTTCCACGGTATCCAGTGCTGTTCTCGCTTGTTCTTTTCTTTTTTTTTTTTTAAACGGAGTTTCACTCTTGTTGCCCAGAGCTGGAGTGCAGTGGCATAATCTCGGCTCACTGCAACCTCCGCCTCCCAGATTCAAGCAATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTATAGGTGCCAGCCACCAAGCCCGGCTAATTTTTGTATTTTTAGTAGAGACAGTTTCACCATGTTGGCCAGGCTGGTCTCGAACTCCTGACCTCAGGTGATCCACCCTCCTCAGCCTCCCAAAGTGCTGGGATTACATGTGTGAGCCACTGTGCCTGGCTGCTTGTTCTTTTAAGAACCAAATATCCTACTAGACTGCAATCGAGTTTAACTACAGTCTATAGATAGTGTGAGGAAGGGTTGGGAAGGTGATCAAATGAAGGCTGGAGGCTTGCTTAGGTCAGAAACATTTCTGGAGGATGACTTTGAGCCCTACATGGTCTGTACCCCAGCAGCTGAAGGTTGTTGAGGGGTGGGGAGGGCTGAAAACAGAACGATAAAGCATAGACCTTGTCTCCAAGGAATGC
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Task1_train_15941
|
This alteration in BEST1 (bestrophin 1) on Chromosome 11 may affect gene function. Does it lead to a disease or is it benign?
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Pathogenic; not provided
|
AGGACTAGGCTGGTGAGGCTGCCCTTTTGGGAAACTGAGGCTAGAAGGACCAAGGAAGCAGCTGGGGTGGGAAGGGCTCACCTAGAGGCTAAGTGGCTCCCCTGGGAGTTGGGTCCACACTTTGAAGTTGGGTCTGGACTTTGAAGTGCCAAGTTCTAAGAGTCCAGGCTCCTGCCTGGCCCAGTCCAGTAGAGGCAATGTGATTATCCCCATATTAAAGAGAGGTTGGCCGGGTGCAGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAAGCTGAGGCAGGTGGATCACCTGAGGTCAGGAGTTCGAGACCAGCCTGGCCAACATGGTGAAACCCCATCTCTACTGAAAATACAGAATTAGCTGTGTGGTGGTGCACGCCTGTAATCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATCGCTTGAACCCGGGAGGTGGAGGTTGCAGTGAGCTGAGATCATGCCACTGCACTCCAGCCTGGGCGACACAGCAAGACTCTGTCTCAAACAAACAAACAAACAAACAAACAAAGGGGTTAACAGAGCCCCTAAGTCACATAAGTGTGCAAGTCAGAACAAGGCCTTGGTCTCCTGTCTCAGACTCCCAGCCCCTGGAGCATCCTGATTTCAGGGTTCCCACCTAGCCCTTTGCTACCACATCCTCCTCCTCCTCCCAGGTGGTGACTGTGGCGGTGTACAGCTTCTTCCTGACTTGTCTAGTTGGGCGGCAGTTTCTGAACCCAGCCAAGGCCTACCCTGGCCATGAGCTGGACCTCGTTGTGCCCGTCTTCACGTTCCTGCAGTTCTTCTTCTATGTTGGCTGGCTGAAGGTGGGCCTCTCCAGGGCCCTGCTGGGCTGGAGGCATGGCCAGAGGGGTCATGGCCAGCAGCTGCCTGAGACGAGGATGCAGTGTCAGGAAAGGAAGGTCTCACGGGTAGAAAGCAGCCAGGCGTGGTGGCGCACACCTGTAATCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATCGCTTGAACCCGGGAGGCGGAGGTTGTGGTGAGTTGAGATCGTGCCACTGCACTCCAGCCTGGGCAAAAGAATGAAACTCTATCTCAAAAACAACAACAACAACAAAACAAAGCCCTAAGGTTCAGAAGCCCCTGCCCTTTAGAAGGCAGATCGGCACCACCTCTCCTTATTCAAGATGCCTGTTGGGCTGTCTTGTTCCTCACCTCAAGTGGCTTGTCCAGGTATTCCCTCCCACCACAGCCAATACTCCGAACAGATGTTCTGAATCACACAGTTTTCTCTCCACCTCTTTATCTTTCCTTCCTTCTGTTGCCCACCCACTCTCTCTCCCTTCCTACCTTCCTTTATTTTTTGGTAATGGGGGTGTAAGTCTCTGTCTCTGCCCTTCCTGTCACTGTGACACACACACACACACACACACACACACACACATACACACACACACACACGCATTCCTATTCCTCTAAATTCCCCCTGCCCCCCCAGTTATCTTTGGTTTCTGCAGATCAAAACAAATCACACTTTTATGCTTGAAATTCTCCGGGGTGCCCCAGTGGCCTGCAAGATGTCCCCTGGACCCCTAAGGCAGACGCGTGTCACCTCTTCGGGGCTTTGTTAGGGCATTTTAGAGGTTGCTATCCAGGAATCTGCCCACCTAGACTGCCCTTTAGTTCAGCCCAGCTTCAGTATATATCTCTGTTGCATGAATGAATAAAATTATGCAACTCCAGGTAAGATACATGAGGTGAGATAAAGGCAGTGACTCAGCCGAGTGATACACTCAGGGACAGCTGTGGGTGTTCAGGGAAGGACTGGCTCAGAAGAGTTAGAGGGGCTGTGTCCAGAAGTGTGTGGGTGCCCACAAGTGTGGGGGGCTGGAGCCCTAAACTCTGCCTTTGAAGACAGTGGTCAGGCAGGAAGGGCGTCATGGGGTGTGGAAATAGCAGCAGCTGAGGTTTAAAGGGGGAAGCTGGCTTTGAGGAGTTCTGCCTGAGGGTTTACAGAGCCTCACCTGTCCCCAAGGTGGCAGAGCAGCTCATCAACCCCTTTGGAGAGGATGATGATGATTTTGAGACCAACTGGATTGTCGACAGGAATTTGCAGGTATGGGGAGAGGGAGAGAAACCATACCATGGACCTTCCCCAAAGTGGACCCAAAGAGAGGACCCCACTGTTCTGTAGGGAGGCCTCACAGTGAATGATCAACCCTTCCCCTCCTCCCTCCTGCAGCCAGTCATTCACTCACAGGATTCTCACCTCAATCTTTGAGGCTGCAGGCAGGCACCCATCTCCCCATTTCACAGGCAGGGAAACTGAGGTCCAGAGAGAGGGAGAGATTCCTCCAAGTCATCAGGCACATACAAGGTCCTGCCTGGGATGATCTTTCTGTGGGACTTCTTCTGTCCCTGGTGACCAGGTGTCCCTGTTGGCTGTGGATGAGATGCACCAGGACCTGCCTCGGATGGAGCCGGACATGTACTGGAATAAGCCCGAGCCACAGCCCCCCTACACAGCTGCTTCCGCCCAGTTCCGTCGAGCCTCCTTTATGGGCTCCACCTTCAACATCAGGTGTGGCCAGAGCCAGGGGGCTGGGTGGGAAGCCCCTCCTAGTGCAGGGGTCTGCCTAGGAACTTAGAATAGCACTAGTTAATGCATACAGGTTGCTTCAGTAAGTGTCAGGCACTGTACTATGCTCTTTATAAACATTAACTATTTTTTTCCTCCCAATAATTCTGGTTTGTTATCCCAAGTTTTCAGATAATTAAAGTACAGGTTCAGAGAGAGTAAGTTGTCCAAGGCCACATAGCTACCAAATGGTGCATTTGCTACTCGAAGGACAGCCTGTGATCAGTGATGCAGTGGAACGTTAGGACCTGGCTCTTGTCATCCAGAACTATGTTTTCTTTTCTTTTTGAGACAGTATCTCGCTCTGTCGCCCAGGTTGGAGCGCAGTGGCGTGATCTTGGCTCACTGCAACCTCCGCCTCCTGGGTTCAAGTGATTCTCCTGCTTCAGCCTCCCCAGTAGCTGGGATTACAGGTGCCCACAACCACAACTGGCTAATTTTTGTACTTTTAGTAGAGATGAGGTTTCACCATGTTGGCCAGGCTGGTCTCCAACTCCTGACCAGTAATCTGCCCGCTTTGGCCTCCCAAAATGCTGGAATTATAGGTGTCAAAACTATGTTTTCTGATAAGCTACGATGCTTGGATGGGAAGTGGAAGTGGGGTTCCCTGGGATGGGGGAGGGGCAGCAAAGTCCCAGCAGGCAGCCAGGCCATCACAGGTACCTCCTGAATTGACTTTGTCCTACCGAGTAAAGGGCTCAGGCCACCCACAGCAGCCAGACTTATCCCCACATGGTCCCACTTCCCTGATTCCATCTGAATCCCTCTTGAGCTGCAGTGGGCTGAAGGGCTATCCCAGCTGGTCCTTTCTCCCCAGGACAACAGAGTTGAAAGTGCCTTGGAGAGTGTTGGGCACATGTCAGGGTTCATACTCAAGGGTTTCTTCCACGGTATCCAGTGCTGTTCTCGCTTGTTCTTTTCTTTTTTTTTTTTTAAACGGAGTTTCACTCTTGTTGCCCAGAGCTGGAGTGCAGTGGCATAATCTCGGCTCACTGCAACCTCCGCCTCCCAGATTCAAGCAATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTATAGGTGCCAGCCACCAAGCCCGGCTAATTTTTGTATTTTTAGTAGAGACAGTTTCACCATGTTGGCCAGGCTGGTCTCGAACTCCTGACCTCAGGTGATCCACCCTCCTCAGCCTCCCAAAGTGCTGGGATTACATGTGTGAGCCACTGTGCCTGGCTGCTTGTTCTTTTAAGAACCAAATATCCTACTAGACTGCAATCGAGTTTAACTACAGTCTATAGATAGTGTGAGGAAGGGTTGGGAAGGTGATCAAATGAAGGCTGGAGGCTTGCTTAGGTCAGAAACATTTCTGGAGGATGACTTTGAGCCCTACATGGTCTGTACCCCAGCAGCTGAAGGTTGTTGAGGGGTGGGGAGGGCTGAAAACAGAACGATAAAGCATAGACCTTGTCTCCAAGGAATGCAC
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AGGACTAGGCTGGTGAGGCTGCCCTTTTGGGAAACTGAGGCTAGAAGGACCAAGGAAGCAGCTGGGGTGGGAAGGGCTCACCTAGAGGCTAAGTGGCTCCCCTGGGAGTTGGGTCCACACTTTGAAGTTGGGTCTGGACTTTGAAGTGCCAAGTTCTAAGAGTCCAGGCTCCTGCCTGGCCCAGTCCAGTAGAGGCAATGTGATTATCCCCATATTAAAGAGAGGTTGGCCGGGTGCAGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAAGCTGAGGCAGGTGGATCACCTGAGGTCAGGAGTTCGAGACCAGCCTGGCCAACATGGTGAAACCCCATCTCTACTGAAAATACAGAATTAGCTGTGTGGTGGTGCACGCCTGTAATCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATCGCTTGAACCCGGGAGGTGGAGGTTGCAGTGAGCTGAGATCATGCCACTGCACTCCAGCCTGGGCGACACAGCAAGACTCTGTCTCAAACAAACAAACAAACAAACAAACAAAGGGGTTAACAGAGCCCCTAAGTCACATAAGTGTGCAAGTCAGAACAAGGCCTTGGTCTCCTGTCTCAGACTCCCAGCCCCTGGAGCATCCTGATTTCAGGGTTCCCACCTAGCCCTTTGCTACCACATCCTCCTCCTCCTCCCAGGTGGTGACTGTGGCGGTGTACAGCTTCTTCCTGACTTGTCTAGTTGGGCGGCAGTTTCTGAACCCAGCCAAGGCCTACCCTGGCCATGAGCTGGACCTCGTTGTGCCCGTCTTCACGTTCCTGCAGTTCTTCTTCTATGTTGGCTGGCTGAAGGTGGGCCTCTCCAGGGCCCTGCTGGGCTGGAGGCATGGCCAGAGGGGTCATGGCCAGCAGCTGCCTGAGACGAGGATGCAGTGTCAGGAAAGGAAGGTCTCACGGGTAGAAAGCAGCCAGGCGTGGTGGCGCACACCTGTAATCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATCGCTTGAACCCGGGAGGCGGAGGTTGTGGTGAGTTGAGATCGTGCCACTGCACTCCAGCCTGGGCAAAAGAATGAAACTCTATCTCAAAAACAACAACAACAACAAAACAAAGCCCTAAGGTTCAGAAGCCCCTGCCCTTTAGAAGGCAGATCGGCACCACCTCTCCTTATTCAAGATGCCTGTTGGGCTGTCTTGTTCCTCACCTCAAGTGGCTTGTCCAGGTATTCCCTCCCACCACAGCCAATACTCCGAACAGATGTTCTGAATCACACAGTTTTCTCTCCACCTCTTTATCTTTCCTTCCTTCTGTTGCCCACCCACTCTCTCTCCCTTCCTACCTTCCTTTATTTTTTGGTAATGGGGGTGTAAGTCTCTGTCTCTGCCCTTCCTGTCACTGTGACACACACACACACACACACACACACACACACATACACACACACACACACGCATTCCTATTCCTCTAAATTCCCCCTGCCCCCCCAGTTATCTTTGGTTTCTGCAGATCAAAACAAATCACACTTTTATGCTTGAAATTCTCCGGGGTGCCCCAGTGGCCTGCAAGATGTCCCCTGGACCCCTAAGGCAGACGCGTGTCACCTCTTCGGGGCTTTGTTAGGGCATTTTAGAGGTTGCTATCCAGGAATCTGCCCACCTAGACTGCCCTTTAGTTCAGCCCAGCTTCAGTATATATCTCTGTTGCATGAATGAATAAAATTATGCAACTCCAGGTAAGATACATGAGGTGAGATAAAGGCAGTGACTCAGCCGAGTGATACACTCAGGGACAGCTGTGGGTGTTCAGGGAAGGACTGGCTCAGAAGAGTTAGAGGGGCTGTGTCCAGAAGTGTGTGGGTGCCCACAAGTGTGGGGGGCTGGAGCCCTAAACTCTGCCTTTGAAGACAGTGGTCAGGCAGGAAGGGCGTCATGGGGTGTGGAAATAGCAGCAGCTGAGGTTTAAAGGGGGAAGCTGGCTTTGAGGAGTTCTGCCTGAGGGTTTACAGAGCCTCACCTGTCCCCAAGGTGGCAGAGCAGCTCATCCACCCCTTTGGAGAGGATGATGATGATTTTGAGACCAACTGGATTGTCGACAGGAATTTGCAGGTATGGGGAGAGGGAGAGAAACCATACCATGGACCTTCCCCAAAGTGGACCCAAAGAGAGGACCCCACTGTTCTGTAGGGAGGCCTCACAGTGAATGATCAACCCTTCCCCTCCTCCCTCCTGCAGCCAGTCATTCACTCACAGGATTCTCACCTCAATCTTTGAGGCTGCAGGCAGGCACCCATCTCCCCATTTCACAGGCAGGGAAACTGAGGTCCAGAGAGAGGGAGAGATTCCTCCAAGTCATCAGGCACATACAAGGTCCTGCCTGGGATGATCTTTCTGTGGGACTTCTTCTGTCCCTGGTGACCAGGTGTCCCTGTTGGCTGTGGATGAGATGCACCAGGACCTGCCTCGGATGGAGCCGGACATGTACTGGAATAAGCCCGAGCCACAGCCCCCCTACACAGCTGCTTCCGCCCAGTTCCGTCGAGCCTCCTTTATGGGCTCCACCTTCAACATCAGGTGTGGCCAGAGCCAGGGGGCTGGGTGGGAAGCCCCTCCTAGTGCAGGGGTCTGCCTAGGAACTTAGAATAGCACTAGTTAATGCATACAGGTTGCTTCAGTAAGTGTCAGGCACTGTACTATGCTCTTTATAAACATTAACTATTTTTTTCCTCCCAATAATTCTGGTTTGTTATCCCAAGTTTTCAGATAATTAAAGTACAGGTTCAGAGAGAGTAAGTTGTCCAAGGCCACATAGCTACCAAATGGTGCATTTGCTACTCGAAGGACAGCCTGTGATCAGTGATGCAGTGGAACGTTAGGACCTGGCTCTTGTCATCCAGAACTATGTTTTCTTTTCTTTTTGAGACAGTATCTCGCTCTGTCGCCCAGGTTGGAGCGCAGTGGCGTGATCTTGGCTCACTGCAACCTCCGCCTCCTGGGTTCAAGTGATTCTCCTGCTTCAGCCTCCCCAGTAGCTGGGATTACAGGTGCCCACAACCACAACTGGCTAATTTTTGTACTTTTAGTAGAGATGAGGTTTCACCATGTTGGCCAGGCTGGTCTCCAACTCCTGACCAGTAATCTGCCCGCTTTGGCCTCCCAAAATGCTGGAATTATAGGTGTCAAAACTATGTTTTCTGATAAGCTACGATGCTTGGATGGGAAGTGGAAGTGGGGTTCCCTGGGATGGGGGAGGGGCAGCAAAGTCCCAGCAGGCAGCCAGGCCATCACAGGTACCTCCTGAATTGACTTTGTCCTACCGAGTAAAGGGCTCAGGCCACCCACAGCAGCCAGACTTATCCCCACATGGTCCCACTTCCCTGATTCCATCTGAATCCCTCTTGAGCTGCAGTGGGCTGAAGGGCTATCCCAGCTGGTCCTTTCTCCCCAGGACAACAGAGTTGAAAGTGCCTTGGAGAGTGTTGGGCACATGTCAGGGTTCATACTCAAGGGTTTCTTCCACGGTATCCAGTGCTGTTCTCGCTTGTTCTTTTCTTTTTTTTTTTTTAAACGGAGTTTCACTCTTGTTGCCCAGAGCTGGAGTGCAGTGGCATAATCTCGGCTCACTGCAACCTCCGCCTCCCAGATTCAAGCAATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTATAGGTGCCAGCCACCAAGCCCGGCTAATTTTTGTATTTTTAGTAGAGACAGTTTCACCATGTTGGCCAGGCTGGTCTCGAACTCCTGACCTCAGGTGATCCACCCTCCTCAGCCTCCCAAAGTGCTGGGATTACATGTGTGAGCCACTGTGCCTGGCTGCTTGTTCTTTTAAGAACCAAATATCCTACTAGACTGCAATCGAGTTTAACTACAGTCTATAGATAGTGTGAGGAAGGGTTGGGAAGGTGATCAAATGAAGGCTGGAGGCTTGCTTAGGTCAGAAACATTTCTGGAGGATGACTTTGAGCCCTACATGGTCTGTACCCCAGCAGCTGAAGGTTGTTGAGGGGTGGGGAGGGCTGAAAACAGAACGATAAAGCATAGACCTTGTCTCCAAGGAATGCAC
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Task1_train_15942
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This variant affects the gene BEST1 (bestrophin 1) found on Chromosome 11. What is the clinical effect of this variant — benign or pathogenic? State the disease if applicable.
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Pathogenic; not provided
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AGGACTAGGCTGGTGAGGCTGCCCTTTTGGGAAACTGAGGCTAGAAGGACCAAGGAAGCAGCTGGGGTGGGAAGGGCTCACCTAGAGGCTAAGTGGCTCCCCTGGGAGTTGGGTCCACACTTTGAAGTTGGGTCTGGACTTTGAAGTGCCAAGTTCTAAGAGTCCAGGCTCCTGCCTGGCCCAGTCCAGTAGAGGCAATGTGATTATCCCCATATTAAAGAGAGGTTGGCCGGGTGCAGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAAGCTGAGGCAGGTGGATCACCTGAGGTCAGGAGTTCGAGACCAGCCTGGCCAACATGGTGAAACCCCATCTCTACTGAAAATACAGAATTAGCTGTGTGGTGGTGCACGCCTGTAATCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATCGCTTGAACCCGGGAGGTGGAGGTTGCAGTGAGCTGAGATCATGCCACTGCACTCCAGCCTGGGCGACACAGCAAGACTCTGTCTCAAACAAACAAACAAACAAACAAACAAAGGGGTTAACAGAGCCCCTAAGTCACATAAGTGTGCAAGTCAGAACAAGGCCTTGGTCTCCTGTCTCAGACTCCCAGCCCCTGGAGCATCCTGATTTCAGGGTTCCCACCTAGCCCTTTGCTACCACATCCTCCTCCTCCTCCCAGGTGGTGACTGTGGCGGTGTACAGCTTCTTCCTGACTTGTCTAGTTGGGCGGCAGTTTCTGAACCCAGCCAAGGCCTACCCTGGCCATGAGCTGGACCTCGTTGTGCCCGTCTTCACGTTCCTGCAGTTCTTCTTCTATGTTGGCTGGCTGAAGGTGGGCCTCTCCAGGGCCCTGCTGGGCTGGAGGCATGGCCAGAGGGGTCATGGCCAGCAGCTGCCTGAGACGAGGATGCAGTGTCAGGAAAGGAAGGTCTCACGGGTAGAAAGCAGCCAGGCGTGGTGGCGCACACCTGTAATCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATCGCTTGAACCCGGGAGGCGGAGGTTGTGGTGAGTTGAGATCGTGCCACTGCACTCCAGCCTGGGCAAAAGAATGAAACTCTATCTCAAAAACAACAACAACAACAAAACAAAGCCCTAAGGTTCAGAAGCCCCTGCCCTTTAGAAGGCAGATCGGCACCACCTCTCCTTATTCAAGATGCCTGTTGGGCTGTCTTGTTCCTCACCTCAAGTGGCTTGTCCAGGTATTCCCTCCCACCACAGCCAATACTCCGAACAGATGTTCTGAATCACACAGTTTTCTCTCCACCTCTTTATCTTTCCTTCCTTCTGTTGCCCACCCACTCTCTCTCCCTTCCTACCTTCCTTTATTTTTTGGTAATGGGGGTGTAAGTCTCTGTCTCTGCCCTTCCTGTCACTGTGACACACACACACACACACACACACACACACACATACACACACACACACACGCATTCCTATTCCTCTAAATTCCCCCTGCCCCCCCAGTTATCTTTGGTTTCTGCAGATCAAAACAAATCACACTTTTATGCTTGAAATTCTCCGGGGTGCCCCAGTGGCCTGCAAGATGTCCCCTGGACCCCTAAGGCAGACGCGTGTCACCTCTTCGGGGCTTTGTTAGGGCATTTTAGAGGTTGCTATCCAGGAATCTGCCCACCTAGACTGCCCTTTAGTTCAGCCCAGCTTCAGTATATATCTCTGTTGCATGAATGAATAAAATTATGCAACTCCAGGTAAGATACATGAGGTGAGATAAAGGCAGTGACTCAGCCGAGTGATACACTCAGGGACAGCTGTGGGTGTTCAGGGAAGGACTGGCTCAGAAGAGTTAGAGGGGCTGTGTCCAGAAGTGTGTGGGTGCCCACAAGTGTGGGGGGCTGGAGCCCTAAACTCTGCCTTTGAAGACAGTGGTCAGGCAGGAAGGGCGTCATGGGGTGTGGAAATAGCAGCAGCTGAGGTTTAAAGGGGGAAGCTGGCTTTGAGGAGTTCTGCCTGAGGGTTTACAGAGCCTCACCTGTCCCCAAGGTGGCAGAGCAGCTCATCAACCCCTTTGGAGAGGATGATGATGATTTTGAGACCAACTGGATTGTCGACAGGAATTTGCAGGTATGGGGAGAGGGAGAGAAACCATACCATGGACCTTCCCCAAAGTGGACCCAAAGAGAGGACCCCACTGTTCTGTAGGGAGGCCTCACAGTGAATGATCAACCCTTCCCCTCCTCCCTCCTGCAGCCAGTCATTCACTCACAGGATTCTCACCTCAATCTTTGAGGCTGCAGGCAGGCACCCATCTCCCCATTTCACAGGCAGGGAAACTGAGGTCCAGAGAGAGGGAGAGATTCCTCCAAGTCATCAGGCACATACAAGGTCCTGCCTGGGATGATCTTTCTGTGGGACTTCTTCTGTCCCTGGTGACCAGGTGTCCCTGTTGGCTGTGGATGAGATGCACCAGGACCTGCCTCGGATGGAGCCGGACATGTACTGGAATAAGCCCGAGCCACAGCCCCCCTACACAGCTGCTTCCGCCCAGTTCCGTCGAGCCTCCTTTATGGGCTCCACCTTCAACATCAGGTGTGGCCAGAGCCAGGGGGCTGGGTGGGAAGCCCCTCCTAGTGCAGGGGTCTGCCTAGGAACTTAGAATAGCACTAGTTAATGCATACAGGTTGCTTCAGTAAGTGTCAGGCACTGTACTATGCTCTTTATAAACATTAACTATTTTTTTCCTCCCAATAATTCTGGTTTGTTATCCCAAGTTTTCAGATAATTAAAGTACAGGTTCAGAGAGAGTAAGTTGTCCAAGGCCACATAGCTACCAAATGGTGCATTTGCTACTCGAAGGACAGCCTGTGATCAGTGATGCAGTGGAACGTTAGGACCTGGCTCTTGTCATCCAGAACTATGTTTTCTTTTCTTTTTGAGACAGTATCTCGCTCTGTCGCCCAGGTTGGAGCGCAGTGGCGTGATCTTGGCTCACTGCAACCTCCGCCTCCTGGGTTCAAGTGATTCTCCTGCTTCAGCCTCCCCAGTAGCTGGGATTACAGGTGCCCACAACCACAACTGGCTAATTTTTGTACTTTTAGTAGAGATGAGGTTTCACCATGTTGGCCAGGCTGGTCTCCAACTCCTGACCAGTAATCTGCCCGCTTTGGCCTCCCAAAATGCTGGAATTATAGGTGTCAAAACTATGTTTTCTGATAAGCTACGATGCTTGGATGGGAAGTGGAAGTGGGGTTCCCTGGGATGGGGGAGGGGCAGCAAAGTCCCAGCAGGCAGCCAGGCCATCACAGGTACCTCCTGAATTGACTTTGTCCTACCGAGTAAAGGGCTCAGGCCACCCACAGCAGCCAGACTTATCCCCACATGGTCCCACTTCCCTGATTCCATCTGAATCCCTCTTGAGCTGCAGTGGGCTGAAGGGCTATCCCAGCTGGTCCTTTCTCCCCAGGACAACAGAGTTGAAAGTGCCTTGGAGAGTGTTGGGCACATGTCAGGGTTCATACTCAAGGGTTTCTTCCACGGTATCCAGTGCTGTTCTCGCTTGTTCTTTTCTTTTTTTTTTTTTAAACGGAGTTTCACTCTTGTTGCCCAGAGCTGGAGTGCAGTGGCATAATCTCGGCTCACTGCAACCTCCGCCTCCCAGATTCAAGCAATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTATAGGTGCCAGCCACCAAGCCCGGCTAATTTTTGTATTTTTAGTAGAGACAGTTTCACCATGTTGGCCAGGCTGGTCTCGAACTCCTGACCTCAGGTGATCCACCCTCCTCAGCCTCCCAAAGTGCTGGGATTACATGTGTGAGCCACTGTGCCTGGCTGCTTGTTCTTTTAAGAACCAAATATCCTACTAGACTGCAATCGAGTTTAACTACAGTCTATAGATAGTGTGAGGAAGGGTTGGGAAGGTGATCAAATGAAGGCTGGAGGCTTGCTTAGGTCAGAAACATTTCTGGAGGATGACTTTGAGCCCTACATGGTCTGTACCCCAGCAGCTGAAGGTTGTTGAGGGGTGGGGAGGGCTGAAAACAGAACGATAAAGCATAGACCTTGTCTCCAAGGAATGCAC
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AGGACTAGGCTGGTGAGGCTGCCCTTTTGGGAAACTGAGGCTAGAAGGACCAAGGAAGCAGCTGGGGTGGGAAGGGCTCACCTAGAGGCTAAGTGGCTCCCCTGGGAGTTGGGTCCACACTTTGAAGTTGGGTCTGGACTTTGAAGTGCCAAGTTCTAAGAGTCCAGGCTCCTGCCTGGCCCAGTCCAGTAGAGGCAATGTGATTATCCCCATATTAAAGAGAGGTTGGCCGGGTGCAGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAAGCTGAGGCAGGTGGATCACCTGAGGTCAGGAGTTCGAGACCAGCCTGGCCAACATGGTGAAACCCCATCTCTACTGAAAATACAGAATTAGCTGTGTGGTGGTGCACGCCTGTAATCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATCGCTTGAACCCGGGAGGTGGAGGTTGCAGTGAGCTGAGATCATGCCACTGCACTCCAGCCTGGGCGACACAGCAAGACTCTGTCTCAAACAAACAAACAAACAAACAAACAAAGGGGTTAACAGAGCCCCTAAGTCACATAAGTGTGCAAGTCAGAACAAGGCCTTGGTCTCCTGTCTCAGACTCCCAGCCCCTGGAGCATCCTGATTTCAGGGTTCCCACCTAGCCCTTTGCTACCACATCCTCCTCCTCCTCCCAGGTGGTGACTGTGGCGGTGTACAGCTTCTTCCTGACTTGTCTAGTTGGGCGGCAGTTTCTGAACCCAGCCAAGGCCTACCCTGGCCATGAGCTGGACCTCGTTGTGCCCGTCTTCACGTTCCTGCAGTTCTTCTTCTATGTTGGCTGGCTGAAGGTGGGCCTCTCCAGGGCCCTGCTGGGCTGGAGGCATGGCCAGAGGGGTCATGGCCAGCAGCTGCCTGAGACGAGGATGCAGTGTCAGGAAAGGAAGGTCTCACGGGTAGAAAGCAGCCAGGCGTGGTGGCGCACACCTGTAATCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATCGCTTGAACCCGGGAGGCGGAGGTTGTGGTGAGTTGAGATCGTGCCACTGCACTCCAGCCTGGGCAAAAGAATGAAACTCTATCTCAAAAACAACAACAACAACAAAACAAAGCCCTAAGGTTCAGAAGCCCCTGCCCTTTAGAAGGCAGATCGGCACCACCTCTCCTTATTCAAGATGCCTGTTGGGCTGTCTTGTTCCTCACCTCAAGTGGCTTGTCCAGGTATTCCCTCCCACCACAGCCAATACTCCGAACAGATGTTCTGAATCACACAGTTTTCTCTCCACCTCTTTATCTTTCCTTCCTTCTGTTGCCCACCCACTCTCTCTCCCTTCCTACCTTCCTTTATTTTTTGGTAATGGGGGTGTAAGTCTCTGTCTCTGCCCTTCCTGTCACTGTGACACACACACACACACACACACACACACACACATACACACACACACACACGCATTCCTATTCCTCTAAATTCCCCCTGCCCCCCCAGTTATCTTTGGTTTCTGCAGATCAAAACAAATCACACTTTTATGCTTGAAATTCTCCGGGGTGCCCCAGTGGCCTGCAAGATGTCCCCTGGACCCCTAAGGCAGACGCGTGTCACCTCTTCGGGGCTTTGTTAGGGCATTTTAGAGGTTGCTATCCAGGAATCTGCCCACCTAGACTGCCCTTTAGTTCAGCCCAGCTTCAGTATATATCTCTGTTGCATGAATGAATAAAATTATGCAACTCCAGGTAAGATACATGAGGTGAGATAAAGGCAGTGACTCAGCCGAGTGATACACTCAGGGACAGCTGTGGGTGTTCAGGGAAGGACTGGCTCAGAAGAGTTAGAGGGGCTGTGTCCAGAAGTGTGTGGGTGCCCACAAGTGTGGGGGGCTGGAGCCCTAAACTCTGCCTTTGAAGACAGTGGTCAGGCAGGAAGGGCGTCATGGGGTGTGGAAATAGCAGCAGCTGAGGTTTAAAGGGGGAAGCTGGCTTTGAGGAGTTCTGCCTGAGGGTTTACAGAGCCTCACCTGTCCCCAAGGTGGCAGAGCAGCTCATCGACCCCTTTGGAGAGGATGATGATGATTTTGAGACCAACTGGATTGTCGACAGGAATTTGCAGGTATGGGGAGAGGGAGAGAAACCATACCATGGACCTTCCCCAAAGTGGACCCAAAGAGAGGACCCCACTGTTCTGTAGGGAGGCCTCACAGTGAATGATCAACCCTTCCCCTCCTCCCTCCTGCAGCCAGTCATTCACTCACAGGATTCTCACCTCAATCTTTGAGGCTGCAGGCAGGCACCCATCTCCCCATTTCACAGGCAGGGAAACTGAGGTCCAGAGAGAGGGAGAGATTCCTCCAAGTCATCAGGCACATACAAGGTCCTGCCTGGGATGATCTTTCTGTGGGACTTCTTCTGTCCCTGGTGACCAGGTGTCCCTGTTGGCTGTGGATGAGATGCACCAGGACCTGCCTCGGATGGAGCCGGACATGTACTGGAATAAGCCCGAGCCACAGCCCCCCTACACAGCTGCTTCCGCCCAGTTCCGTCGAGCCTCCTTTATGGGCTCCACCTTCAACATCAGGTGTGGCCAGAGCCAGGGGGCTGGGTGGGAAGCCCCTCCTAGTGCAGGGGTCTGCCTAGGAACTTAGAATAGCACTAGTTAATGCATACAGGTTGCTTCAGTAAGTGTCAGGCACTGTACTATGCTCTTTATAAACATTAACTATTTTTTTCCTCCCAATAATTCTGGTTTGTTATCCCAAGTTTTCAGATAATTAAAGTACAGGTTCAGAGAGAGTAAGTTGTCCAAGGCCACATAGCTACCAAATGGTGCATTTGCTACTCGAAGGACAGCCTGTGATCAGTGATGCAGTGGAACGTTAGGACCTGGCTCTTGTCATCCAGAACTATGTTTTCTTTTCTTTTTGAGACAGTATCTCGCTCTGTCGCCCAGGTTGGAGCGCAGTGGCGTGATCTTGGCTCACTGCAACCTCCGCCTCCTGGGTTCAAGTGATTCTCCTGCTTCAGCCTCCCCAGTAGCTGGGATTACAGGTGCCCACAACCACAACTGGCTAATTTTTGTACTTTTAGTAGAGATGAGGTTTCACCATGTTGGCCAGGCTGGTCTCCAACTCCTGACCAGTAATCTGCCCGCTTTGGCCTCCCAAAATGCTGGAATTATAGGTGTCAAAACTATGTTTTCTGATAAGCTACGATGCTTGGATGGGAAGTGGAAGTGGGGTTCCCTGGGATGGGGGAGGGGCAGCAAAGTCCCAGCAGGCAGCCAGGCCATCACAGGTACCTCCTGAATTGACTTTGTCCTACCGAGTAAAGGGCTCAGGCCACCCACAGCAGCCAGACTTATCCCCACATGGTCCCACTTCCCTGATTCCATCTGAATCCCTCTTGAGCTGCAGTGGGCTGAAGGGCTATCCCAGCTGGTCCTTTCTCCCCAGGACAACAGAGTTGAAAGTGCCTTGGAGAGTGTTGGGCACATGTCAGGGTTCATACTCAAGGGTTTCTTCCACGGTATCCAGTGCTGTTCTCGCTTGTTCTTTTCTTTTTTTTTTTTTAAACGGAGTTTCACTCTTGTTGCCCAGAGCTGGAGTGCAGTGGCATAATCTCGGCTCACTGCAACCTCCGCCTCCCAGATTCAAGCAATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTATAGGTGCCAGCCACCAAGCCCGGCTAATTTTTGTATTTTTAGTAGAGACAGTTTCACCATGTTGGCCAGGCTGGTCTCGAACTCCTGACCTCAGGTGATCCACCCTCCTCAGCCTCCCAAAGTGCTGGGATTACATGTGTGAGCCACTGTGCCTGGCTGCTTGTTCTTTTAAGAACCAAATATCCTACTAGACTGCAATCGAGTTTAACTACAGTCTATAGATAGTGTGAGGAAGGGTTGGGAAGGTGATCAAATGAAGGCTGGAGGCTTGCTTAGGTCAGAAACATTTCTGGAGGATGACTTTGAGCCCTACATGGTCTGTACCCCAGCAGCTGAAGGTTGTTGAGGGGTGGGGAGGGCTGAAAACAGAACGATAAAGCATAGACCTTGTCTCCAAGGAATGCAC
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Task1_train_15943
|
The variant affects gene BEST1 (bestrophin 1), which is on Chromosome 11. Please evaluate whether this mutation is benign or pathogenic and specify the disease if necessary.
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Pathogenic; Retinal dystrophy
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GGACTAGGCTGGTGAGGCTGCCCTTTTGGGAAACTGAGGCTAGAAGGACCAAGGAAGCAGCTGGGGTGGGAAGGGCTCACCTAGAGGCTAAGTGGCTCCCCTGGGAGTTGGGTCCACACTTTGAAGTTGGGTCTGGACTTTGAAGTGCCAAGTTCTAAGAGTCCAGGCTCCTGCCTGGCCCAGTCCAGTAGAGGCAATGTGATTATCCCCATATTAAAGAGAGGTTGGCCGGGTGCAGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAAGCTGAGGCAGGTGGATCACCTGAGGTCAGGAGTTCGAGACCAGCCTGGCCAACATGGTGAAACCCCATCTCTACTGAAAATACAGAATTAGCTGTGTGGTGGTGCACGCCTGTAATCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATCGCTTGAACCCGGGAGGTGGAGGTTGCAGTGAGCTGAGATCATGCCACTGCACTCCAGCCTGGGCGACACAGCAAGACTCTGTCTCAAACAAACAAACAAACAAACAAACAAAGGGGTTAACAGAGCCCCTAAGTCACATAAGTGTGCAAGTCAGAACAAGGCCTTGGTCTCCTGTCTCAGACTCCCAGCCCCTGGAGCATCCTGATTTCAGGGTTCCCACCTAGCCCTTTGCTACCACATCCTCCTCCTCCTCCCAGGTGGTGACTGTGGCGGTGTACAGCTTCTTCCTGACTTGTCTAGTTGGGCGGCAGTTTCTGAACCCAGCCAAGGCCTACCCTGGCCATGAGCTGGACCTCGTTGTGCCCGTCTTCACGTTCCTGCAGTTCTTCTTCTATGTTGGCTGGCTGAAGGTGGGCCTCTCCAGGGCCCTGCTGGGCTGGAGGCATGGCCAGAGGGGTCATGGCCAGCAGCTGCCTGAGACGAGGATGCAGTGTCAGGAAAGGAAGGTCTCACGGGTAGAAAGCAGCCAGGCGTGGTGGCGCACACCTGTAATCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATCGCTTGAACCCGGGAGGCGGAGGTTGTGGTGAGTTGAGATCGTGCCACTGCACTCCAGCCTGGGCAAAAGAATGAAACTCTATCTCAAAAACAACAACAACAACAAAACAAAGCCCTAAGGTTCAGAAGCCCCTGCCCTTTAGAAGGCAGATCGGCACCACCTCTCCTTATTCAAGATGCCTGTTGGGCTGTCTTGTTCCTCACCTCAAGTGGCTTGTCCAGGTATTCCCTCCCACCACAGCCAATACTCCGAACAGATGTTCTGAATCACACAGTTTTCTCTCCACCTCTTTATCTTTCCTTCCTTCTGTTGCCCACCCACTCTCTCTCCCTTCCTACCTTCCTTTATTTTTTGGTAATGGGGGTGTAAGTCTCTGTCTCTGCCCTTCCTGTCACTGTGACACACACACACACACACACACACACACACACATACACACACACACACACGCATTCCTATTCCTCTAAATTCCCCCTGCCCCCCCAGTTATCTTTGGTTTCTGCAGATCAAAACAAATCACACTTTTATGCTTGAAATTCTCCGGGGTGCCCCAGTGGCCTGCAAGATGTCCCCTGGACCCCTAAGGCAGACGCGTGTCACCTCTTCGGGGCTTTGTTAGGGCATTTTAGAGGTTGCTATCCAGGAATCTGCCCACCTAGACTGCCCTTTAGTTCAGCCCAGCTTCAGTATATATCTCTGTTGCATGAATGAATAAAATTATGCAACTCCAGGTAAGATACATGAGGTGAGATAAAGGCAGTGACTCAGCCGAGTGATACACTCAGGGACAGCTGTGGGTGTTCAGGGAAGGACTGGCTCAGAAGAGTTAGAGGGGCTGTGTCCAGAAGTGTGTGGGTGCCCACAAGTGTGGGGGGCTGGAGCCCTAAACTCTGCCTTTGAAGACAGTGGTCAGGCAGGAAGGGCGTCATGGGGTGTGGAAATAGCAGCAGCTGAGGTTTAAAGGGGGAAGCTGGCTTTGAGGAGTTCTGCCTGAGGGTTTACAGAGCCTCACCTGTCCCCAAGGTGGCAGAGCAGCTCATCAACCCCTTTGGAGAGGATGATGATGATTTTGAGACCAACTGGATTGTCGACAGGAATTTGCAGGTATGGGGAGAGGGAGAGAAACCATACCATGGACCTTCCCCAAAGTGGACCCAAAGAGAGGACCCCACTGTTCTGTAGGGAGGCCTCACAGTGAATGATCAACCCTTCCCCTCCTCCCTCCTGCAGCCAGTCATTCACTCACAGGATTCTCACCTCAATCTTTGAGGCTGCAGGCAGGCACCCATCTCCCCATTTCACAGGCAGGGAAACTGAGGTCCAGAGAGAGGGAGAGATTCCTCCAAGTCATCAGGCACATACAAGGTCCTGCCTGGGATGATCTTTCTGTGGGACTTCTTCTGTCCCTGGTGACCAGGTGTCCCTGTTGGCTGTGGATGAGATGCACCAGGACCTGCCTCGGATGGAGCCGGACATGTACTGGAATAAGCCCGAGCCACAGCCCCCCTACACAGCTGCTTCCGCCCAGTTCCGTCGAGCCTCCTTTATGGGCTCCACCTTCAACATCAGGTGTGGCCAGAGCCAGGGGGCTGGGTGGGAAGCCCCTCCTAGTGCAGGGGTCTGCCTAGGAACTTAGAATAGCACTAGTTAATGCATACAGGTTGCTTCAGTAAGTGTCAGGCACTGTACTATGCTCTTTATAAACATTAACTATTTTTTTCCTCCCAATAATTCTGGTTTGTTATCCCAAGTTTTCAGATAATTAAAGTACAGGTTCAGAGAGAGTAAGTTGTCCAAGGCCACATAGCTACCAAATGGTGCATTTGCTACTCGAAGGACAGCCTGTGATCAGTGATGCAGTGGAACGTTAGGACCTGGCTCTTGTCATCCAGAACTATGTTTTCTTTTCTTTTTGAGACAGTATCTCGCTCTGTCGCCCAGGTTGGAGCGCAGTGGCGTGATCTTGGCTCACTGCAACCTCCGCCTCCTGGGTTCAAGTGATTCTCCTGCTTCAGCCTCCCCAGTAGCTGGGATTACAGGTGCCCACAACCACAACTGGCTAATTTTTGTACTTTTAGTAGAGATGAGGTTTCACCATGTTGGCCAGGCTGGTCTCCAACTCCTGACCAGTAATCTGCCCGCTTTGGCCTCCCAAAATGCTGGAATTATAGGTGTCAAAACTATGTTTTCTGATAAGCTACGATGCTTGGATGGGAAGTGGAAGTGGGGTTCCCTGGGATGGGGGAGGGGCAGCAAAGTCCCAGCAGGCAGCCAGGCCATCACAGGTACCTCCTGAATTGACTTTGTCCTACCGAGTAAAGGGCTCAGGCCACCCACAGCAGCCAGACTTATCCCCACATGGTCCCACTTCCCTGATTCCATCTGAATCCCTCTTGAGCTGCAGTGGGCTGAAGGGCTATCCCAGCTGGTCCTTTCTCCCCAGGACAACAGAGTTGAAAGTGCCTTGGAGAGTGTTGGGCACATGTCAGGGTTCATACTCAAGGGTTTCTTCCACGGTATCCAGTGCTGTTCTCGCTTGTTCTTTTCTTTTTTTTTTTTTAAACGGAGTTTCACTCTTGTTGCCCAGAGCTGGAGTGCAGTGGCATAATCTCGGCTCACTGCAACCTCCGCCTCCCAGATTCAAGCAATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTATAGGTGCCAGCCACCAAGCCCGGCTAATTTTTGTATTTTTAGTAGAGACAGTTTCACCATGTTGGCCAGGCTGGTCTCGAACTCCTGACCTCAGGTGATCCACCCTCCTCAGCCTCCCAAAGTGCTGGGATTACATGTGTGAGCCACTGTGCCTGGCTGCTTGTTCTTTTAAGAACCAAATATCCTACTAGACTGCAATCGAGTTTAACTACAGTCTATAGATAGTGTGAGGAAGGGTTGGGAAGGTGATCAAATGAAGGCTGGAGGCTTGCTTAGGTCAGAAACATTTCTGGAGGATGACTTTGAGCCCTACATGGTCTGTACCCCAGCAGCTGAAGGTTGTTGAGGGGTGGGGAGGGCTGAAAACAGAACGATAAAGCATAGACCTTGTCTCCAAGGAATGCACA
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GGACTAGGCTGGTGAGGCTGCCCTTTTGGGAAACTGAGGCTAGAAGGACCAAGGAAGCAGCTGGGGTGGGAAGGGCTCACCTAGAGGCTAAGTGGCTCCCCTGGGAGTTGGGTCCACACTTTGAAGTTGGGTCTGGACTTTGAAGTGCCAAGTTCTAAGAGTCCAGGCTCCTGCCTGGCCCAGTCCAGTAGAGGCAATGTGATTATCCCCATATTAAAGAGAGGTTGGCCGGGTGCAGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAAGCTGAGGCAGGTGGATCACCTGAGGTCAGGAGTTCGAGACCAGCCTGGCCAACATGGTGAAACCCCATCTCTACTGAAAATACAGAATTAGCTGTGTGGTGGTGCACGCCTGTAATCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATCGCTTGAACCCGGGAGGTGGAGGTTGCAGTGAGCTGAGATCATGCCACTGCACTCCAGCCTGGGCGACACAGCAAGACTCTGTCTCAAACAAACAAACAAACAAACAAACAAAGGGGTTAACAGAGCCCCTAAGTCACATAAGTGTGCAAGTCAGAACAAGGCCTTGGTCTCCTGTCTCAGACTCCCAGCCCCTGGAGCATCCTGATTTCAGGGTTCCCACCTAGCCCTTTGCTACCACATCCTCCTCCTCCTCCCAGGTGGTGACTGTGGCGGTGTACAGCTTCTTCCTGACTTGTCTAGTTGGGCGGCAGTTTCTGAACCCAGCCAAGGCCTACCCTGGCCATGAGCTGGACCTCGTTGTGCCCGTCTTCACGTTCCTGCAGTTCTTCTTCTATGTTGGCTGGCTGAAGGTGGGCCTCTCCAGGGCCCTGCTGGGCTGGAGGCATGGCCAGAGGGGTCATGGCCAGCAGCTGCCTGAGACGAGGATGCAGTGTCAGGAAAGGAAGGTCTCACGGGTAGAAAGCAGCCAGGCGTGGTGGCGCACACCTGTAATCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATCGCTTGAACCCGGGAGGCGGAGGTTGTGGTGAGTTGAGATCGTGCCACTGCACTCCAGCCTGGGCAAAAGAATGAAACTCTATCTCAAAAACAACAACAACAACAAAACAAAGCCCTAAGGTTCAGAAGCCCCTGCCCTTTAGAAGGCAGATCGGCACCACCTCTCCTTATTCAAGATGCCTGTTGGGCTGTCTTGTTCCTCACCTCAAGTGGCTTGTCCAGGTATTCCCTCCCACCACAGCCAATACTCCGAACAGATGTTCTGAATCACACAGTTTTCTCTCCACCTCTTTATCTTTCCTTCCTTCTGTTGCCCACCCACTCTCTCTCCCTTCCTACCTTCCTTTATTTTTTGGTAATGGGGGTGTAAGTCTCTGTCTCTGCCCTTCCTGTCACTGTGACACACACACACACACACACACACACACACACATACACACACACACACACGCATTCCTATTCCTCTAAATTCCCCCTGCCCCCCCAGTTATCTTTGGTTTCTGCAGATCAAAACAAATCACACTTTTATGCTTGAAATTCTCCGGGGTGCCCCAGTGGCCTGCAAGATGTCCCCTGGACCCCTAAGGCAGACGCGTGTCACCTCTTCGGGGCTTTGTTAGGGCATTTTAGAGGTTGCTATCCAGGAATCTGCCCACCTAGACTGCCCTTTAGTTCAGCCCAGCTTCAGTATATATCTCTGTTGCATGAATGAATAAAATTATGCAACTCCAGGTAAGATACATGAGGTGAGATAAAGGCAGTGACTCAGCCGAGTGATACACTCAGGGACAGCTGTGGGTGTTCAGGGAAGGACTGGCTCAGAAGAGTTAGAGGGGCTGTGTCCAGAAGTGTGTGGGTGCCCACAAGTGTGGGGGGCTGGAGCCCTAAACTCTGCCTTTGAAGACAGTGGTCAGGCAGGAAGGGCGTCATGGGGTGTGGAAATAGCAGCAGCTGAGGTTTAAAGGGGGAAGCTGGCTTTGAGGAGTTCTGCCTGAGGGTTTACAGAGCCTCACCTGTCCCCAAGGTGGCAGAGCAGCTCATCAGCCCCTTTGGAGAGGATGATGATGATTTTGAGACCAACTGGATTGTCGACAGGAATTTGCAGGTATGGGGAGAGGGAGAGAAACCATACCATGGACCTTCCCCAAAGTGGACCCAAAGAGAGGACCCCACTGTTCTGTAGGGAGGCCTCACAGTGAATGATCAACCCTTCCCCTCCTCCCTCCTGCAGCCAGTCATTCACTCACAGGATTCTCACCTCAATCTTTGAGGCTGCAGGCAGGCACCCATCTCCCCATTTCACAGGCAGGGAAACTGAGGTCCAGAGAGAGGGAGAGATTCCTCCAAGTCATCAGGCACATACAAGGTCCTGCCTGGGATGATCTTTCTGTGGGACTTCTTCTGTCCCTGGTGACCAGGTGTCCCTGTTGGCTGTGGATGAGATGCACCAGGACCTGCCTCGGATGGAGCCGGACATGTACTGGAATAAGCCCGAGCCACAGCCCCCCTACACAGCTGCTTCCGCCCAGTTCCGTCGAGCCTCCTTTATGGGCTCCACCTTCAACATCAGGTGTGGCCAGAGCCAGGGGGCTGGGTGGGAAGCCCCTCCTAGTGCAGGGGTCTGCCTAGGAACTTAGAATAGCACTAGTTAATGCATACAGGTTGCTTCAGTAAGTGTCAGGCACTGTACTATGCTCTTTATAAACATTAACTATTTTTTTCCTCCCAATAATTCTGGTTTGTTATCCCAAGTTTTCAGATAATTAAAGTACAGGTTCAGAGAGAGTAAGTTGTCCAAGGCCACATAGCTACCAAATGGTGCATTTGCTACTCGAAGGACAGCCTGTGATCAGTGATGCAGTGGAACGTTAGGACCTGGCTCTTGTCATCCAGAACTATGTTTTCTTTTCTTTTTGAGACAGTATCTCGCTCTGTCGCCCAGGTTGGAGCGCAGTGGCGTGATCTTGGCTCACTGCAACCTCCGCCTCCTGGGTTCAAGTGATTCTCCTGCTTCAGCCTCCCCAGTAGCTGGGATTACAGGTGCCCACAACCACAACTGGCTAATTTTTGTACTTTTAGTAGAGATGAGGTTTCACCATGTTGGCCAGGCTGGTCTCCAACTCCTGACCAGTAATCTGCCCGCTTTGGCCTCCCAAAATGCTGGAATTATAGGTGTCAAAACTATGTTTTCTGATAAGCTACGATGCTTGGATGGGAAGTGGAAGTGGGGTTCCCTGGGATGGGGGAGGGGCAGCAAAGTCCCAGCAGGCAGCCAGGCCATCACAGGTACCTCCTGAATTGACTTTGTCCTACCGAGTAAAGGGCTCAGGCCACCCACAGCAGCCAGACTTATCCCCACATGGTCCCACTTCCCTGATTCCATCTGAATCCCTCTTGAGCTGCAGTGGGCTGAAGGGCTATCCCAGCTGGTCCTTTCTCCCCAGGACAACAGAGTTGAAAGTGCCTTGGAGAGTGTTGGGCACATGTCAGGGTTCATACTCAAGGGTTTCTTCCACGGTATCCAGTGCTGTTCTCGCTTGTTCTTTTCTTTTTTTTTTTTTAAACGGAGTTTCACTCTTGTTGCCCAGAGCTGGAGTGCAGTGGCATAATCTCGGCTCACTGCAACCTCCGCCTCCCAGATTCAAGCAATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTATAGGTGCCAGCCACCAAGCCCGGCTAATTTTTGTATTTTTAGTAGAGACAGTTTCACCATGTTGGCCAGGCTGGTCTCGAACTCCTGACCTCAGGTGATCCACCCTCCTCAGCCTCCCAAAGTGCTGGGATTACATGTGTGAGCCACTGTGCCTGGCTGCTTGTTCTTTTAAGAACCAAATATCCTACTAGACTGCAATCGAGTTTAACTACAGTCTATAGATAGTGTGAGGAAGGGTTGGGAAGGTGATCAAATGAAGGCTGGAGGCTTGCTTAGGTCAGAAACATTTCTGGAGGATGACTTTGAGCCCTACATGGTCTGTACCCCAGCAGCTGAAGGTTGTTGAGGGGTGGGGAGGGCTGAAAACAGAACGATAAAGCATAGACCTTGTCTCCAAGGAATGCACA
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Task1_train_15944
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A variant was discovered in gene BEST1 (bestrophin 1), Chromosome 11. Please indicate if this mutation results in a known disease or if it's non-harmful.
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Pathogenic; Vitelliform macular dystrophy 2
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GACTAGGCTGGTGAGGCTGCCCTTTTGGGAAACTGAGGCTAGAAGGACCAAGGAAGCAGCTGGGGTGGGAAGGGCTCACCTAGAGGCTAAGTGGCTCCCCTGGGAGTTGGGTCCACACTTTGAAGTTGGGTCTGGACTTTGAAGTGCCAAGTTCTAAGAGTCCAGGCTCCTGCCTGGCCCAGTCCAGTAGAGGCAATGTGATTATCCCCATATTAAAGAGAGGTTGGCCGGGTGCAGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAAGCTGAGGCAGGTGGATCACCTGAGGTCAGGAGTTCGAGACCAGCCTGGCCAACATGGTGAAACCCCATCTCTACTGAAAATACAGAATTAGCTGTGTGGTGGTGCACGCCTGTAATCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATCGCTTGAACCCGGGAGGTGGAGGTTGCAGTGAGCTGAGATCATGCCACTGCACTCCAGCCTGGGCGACACAGCAAGACTCTGTCTCAAACAAACAAACAAACAAACAAACAAAGGGGTTAACAGAGCCCCTAAGTCACATAAGTGTGCAAGTCAGAACAAGGCCTTGGTCTCCTGTCTCAGACTCCCAGCCCCTGGAGCATCCTGATTTCAGGGTTCCCACCTAGCCCTTTGCTACCACATCCTCCTCCTCCTCCCAGGTGGTGACTGTGGCGGTGTACAGCTTCTTCCTGACTTGTCTAGTTGGGCGGCAGTTTCTGAACCCAGCCAAGGCCTACCCTGGCCATGAGCTGGACCTCGTTGTGCCCGTCTTCACGTTCCTGCAGTTCTTCTTCTATGTTGGCTGGCTGAAGGTGGGCCTCTCCAGGGCCCTGCTGGGCTGGAGGCATGGCCAGAGGGGTCATGGCCAGCAGCTGCCTGAGACGAGGATGCAGTGTCAGGAAAGGAAGGTCTCACGGGTAGAAAGCAGCCAGGCGTGGTGGCGCACACCTGTAATCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATCGCTTGAACCCGGGAGGCGGAGGTTGTGGTGAGTTGAGATCGTGCCACTGCACTCCAGCCTGGGCAAAAGAATGAAACTCTATCTCAAAAACAACAACAACAACAAAACAAAGCCCTAAGGTTCAGAAGCCCCTGCCCTTTAGAAGGCAGATCGGCACCACCTCTCCTTATTCAAGATGCCTGTTGGGCTGTCTTGTTCCTCACCTCAAGTGGCTTGTCCAGGTATTCCCTCCCACCACAGCCAATACTCCGAACAGATGTTCTGAATCACACAGTTTTCTCTCCACCTCTTTATCTTTCCTTCCTTCTGTTGCCCACCCACTCTCTCTCCCTTCCTACCTTCCTTTATTTTTTGGTAATGGGGGTGTAAGTCTCTGTCTCTGCCCTTCCTGTCACTGTGACACACACACACACACACACACACACACACACATACACACACACACACACGCATTCCTATTCCTCTAAATTCCCCCTGCCCCCCCAGTTATCTTTGGTTTCTGCAGATCAAAACAAATCACACTTTTATGCTTGAAATTCTCCGGGGTGCCCCAGTGGCCTGCAAGATGTCCCCTGGACCCCTAAGGCAGACGCGTGTCACCTCTTCGGGGCTTTGTTAGGGCATTTTAGAGGTTGCTATCCAGGAATCTGCCCACCTAGACTGCCCTTTAGTTCAGCCCAGCTTCAGTATATATCTCTGTTGCATGAATGAATAAAATTATGCAACTCCAGGTAAGATACATGAGGTGAGATAAAGGCAGTGACTCAGCCGAGTGATACACTCAGGGACAGCTGTGGGTGTTCAGGGAAGGACTGGCTCAGAAGAGTTAGAGGGGCTGTGTCCAGAAGTGTGTGGGTGCCCACAAGTGTGGGGGGCTGGAGCCCTAAACTCTGCCTTTGAAGACAGTGGTCAGGCAGGAAGGGCGTCATGGGGTGTGGAAATAGCAGCAGCTGAGGTTTAAAGGGGGAAGCTGGCTTTGAGGAGTTCTGCCTGAGGGTTTACAGAGCCTCACCTGTCCCCAAGGTGGCAGAGCAGCTCATCAACCCCTTTGGAGAGGATGATGATGATTTTGAGACCAACTGGATTGTCGACAGGAATTTGCAGGTATGGGGAGAGGGAGAGAAACCATACCATGGACCTTCCCCAAAGTGGACCCAAAGAGAGGACCCCACTGTTCTGTAGGGAGGCCTCACAGTGAATGATCAACCCTTCCCCTCCTCCCTCCTGCAGCCAGTCATTCACTCACAGGATTCTCACCTCAATCTTTGAGGCTGCAGGCAGGCACCCATCTCCCCATTTCACAGGCAGGGAAACTGAGGTCCAGAGAGAGGGAGAGATTCCTCCAAGTCATCAGGCACATACAAGGTCCTGCCTGGGATGATCTTTCTGTGGGACTTCTTCTGTCCCTGGTGACCAGGTGTCCCTGTTGGCTGTGGATGAGATGCACCAGGACCTGCCTCGGATGGAGCCGGACATGTACTGGAATAAGCCCGAGCCACAGCCCCCCTACACAGCTGCTTCCGCCCAGTTCCGTCGAGCCTCCTTTATGGGCTCCACCTTCAACATCAGGTGTGGCCAGAGCCAGGGGGCTGGGTGGGAAGCCCCTCCTAGTGCAGGGGTCTGCCTAGGAACTTAGAATAGCACTAGTTAATGCATACAGGTTGCTTCAGTAAGTGTCAGGCACTGTACTATGCTCTTTATAAACATTAACTATTTTTTTCCTCCCAATAATTCTGGTTTGTTATCCCAAGTTTTCAGATAATTAAAGTACAGGTTCAGAGAGAGTAAGTTGTCCAAGGCCACATAGCTACCAAATGGTGCATTTGCTACTCGAAGGACAGCCTGTGATCAGTGATGCAGTGGAACGTTAGGACCTGGCTCTTGTCATCCAGAACTATGTTTTCTTTTCTTTTTGAGACAGTATCTCGCTCTGTCGCCCAGGTTGGAGCGCAGTGGCGTGATCTTGGCTCACTGCAACCTCCGCCTCCTGGGTTCAAGTGATTCTCCTGCTTCAGCCTCCCCAGTAGCTGGGATTACAGGTGCCCACAACCACAACTGGCTAATTTTTGTACTTTTAGTAGAGATGAGGTTTCACCATGTTGGCCAGGCTGGTCTCCAACTCCTGACCAGTAATCTGCCCGCTTTGGCCTCCCAAAATGCTGGAATTATAGGTGTCAAAACTATGTTTTCTGATAAGCTACGATGCTTGGATGGGAAGTGGAAGTGGGGTTCCCTGGGATGGGGGAGGGGCAGCAAAGTCCCAGCAGGCAGCCAGGCCATCACAGGTACCTCCTGAATTGACTTTGTCCTACCGAGTAAAGGGCTCAGGCCACCCACAGCAGCCAGACTTATCCCCACATGGTCCCACTTCCCTGATTCCATCTGAATCCCTCTTGAGCTGCAGTGGGCTGAAGGGCTATCCCAGCTGGTCCTTTCTCCCCAGGACAACAGAGTTGAAAGTGCCTTGGAGAGTGTTGGGCACATGTCAGGGTTCATACTCAAGGGTTTCTTCCACGGTATCCAGTGCTGTTCTCGCTTGTTCTTTTCTTTTTTTTTTTTTAAACGGAGTTTCACTCTTGTTGCCCAGAGCTGGAGTGCAGTGGCATAATCTCGGCTCACTGCAACCTCCGCCTCCCAGATTCAAGCAATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTATAGGTGCCAGCCACCAAGCCCGGCTAATTTTTGTATTTTTAGTAGAGACAGTTTCACCATGTTGGCCAGGCTGGTCTCGAACTCCTGACCTCAGGTGATCCACCCTCCTCAGCCTCCCAAAGTGCTGGGATTACATGTGTGAGCCACTGTGCCTGGCTGCTTGTTCTTTTAAGAACCAAATATCCTACTAGACTGCAATCGAGTTTAACTACAGTCTATAGATAGTGTGAGGAAGGGTTGGGAAGGTGATCAAATGAAGGCTGGAGGCTTGCTTAGGTCAGAAACATTTCTGGAGGATGACTTTGAGCCCTACATGGTCTGTACCCCAGCAGCTGAAGGTTGTTGAGGGGTGGGGAGGGCTGAAAACAGAACGATAAAGCATAGACCTTGTCTCCAAGGAATGCACAA
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GACTAGGCTGGTGAGGCTGCCCTTTTGGGAAACTGAGGCTAGAAGGACCAAGGAAGCAGCTGGGGTGGGAAGGGCTCACCTAGAGGCTAAGTGGCTCCCCTGGGAGTTGGGTCCACACTTTGAAGTTGGGTCTGGACTTTGAAGTGCCAAGTTCTAAGAGTCCAGGCTCCTGCCTGGCCCAGTCCAGTAGAGGCAATGTGATTATCCCCATATTAAAGAGAGGTTGGCCGGGTGCAGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAAGCTGAGGCAGGTGGATCACCTGAGGTCAGGAGTTCGAGACCAGCCTGGCCAACATGGTGAAACCCCATCTCTACTGAAAATACAGAATTAGCTGTGTGGTGGTGCACGCCTGTAATCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATCGCTTGAACCCGGGAGGTGGAGGTTGCAGTGAGCTGAGATCATGCCACTGCACTCCAGCCTGGGCGACACAGCAAGACTCTGTCTCAAACAAACAAACAAACAAACAAACAAAGGGGTTAACAGAGCCCCTAAGTCACATAAGTGTGCAAGTCAGAACAAGGCCTTGGTCTCCTGTCTCAGACTCCCAGCCCCTGGAGCATCCTGATTTCAGGGTTCCCACCTAGCCCTTTGCTACCACATCCTCCTCCTCCTCCCAGGTGGTGACTGTGGCGGTGTACAGCTTCTTCCTGACTTGTCTAGTTGGGCGGCAGTTTCTGAACCCAGCCAAGGCCTACCCTGGCCATGAGCTGGACCTCGTTGTGCCCGTCTTCACGTTCCTGCAGTTCTTCTTCTATGTTGGCTGGCTGAAGGTGGGCCTCTCCAGGGCCCTGCTGGGCTGGAGGCATGGCCAGAGGGGTCATGGCCAGCAGCTGCCTGAGACGAGGATGCAGTGTCAGGAAAGGAAGGTCTCACGGGTAGAAAGCAGCCAGGCGTGGTGGCGCACACCTGTAATCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATCGCTTGAACCCGGGAGGCGGAGGTTGTGGTGAGTTGAGATCGTGCCACTGCACTCCAGCCTGGGCAAAAGAATGAAACTCTATCTCAAAAACAACAACAACAACAAAACAAAGCCCTAAGGTTCAGAAGCCCCTGCCCTTTAGAAGGCAGATCGGCACCACCTCTCCTTATTCAAGATGCCTGTTGGGCTGTCTTGTTCCTCACCTCAAGTGGCTTGTCCAGGTATTCCCTCCCACCACAGCCAATACTCCGAACAGATGTTCTGAATCACACAGTTTTCTCTCCACCTCTTTATCTTTCCTTCCTTCTGTTGCCCACCCACTCTCTCTCCCTTCCTACCTTCCTTTATTTTTTGGTAATGGGGGTGTAAGTCTCTGTCTCTGCCCTTCCTGTCACTGTGACACACACACACACACACACACACACACACACATACACACACACACACACGCATTCCTATTCCTCTAAATTCCCCCTGCCCCCCCAGTTATCTTTGGTTTCTGCAGATCAAAACAAATCACACTTTTATGCTTGAAATTCTCCGGGGTGCCCCAGTGGCCTGCAAGATGTCCCCTGGACCCCTAAGGCAGACGCGTGTCACCTCTTCGGGGCTTTGTTAGGGCATTTTAGAGGTTGCTATCCAGGAATCTGCCCACCTAGACTGCCCTTTAGTTCAGCCCAGCTTCAGTATATATCTCTGTTGCATGAATGAATAAAATTATGCAACTCCAGGTAAGATACATGAGGTGAGATAAAGGCAGTGACTCAGCCGAGTGATACACTCAGGGACAGCTGTGGGTGTTCAGGGAAGGACTGGCTCAGAAGAGTTAGAGGGGCTGTGTCCAGAAGTGTGTGGGTGCCCACAAGTGTGGGGGGCTGGAGCCCTAAACTCTGCCTTTGAAGACAGTGGTCAGGCAGGAAGGGCGTCATGGGGTGTGGAAATAGCAGCAGCTGAGGTTTAAAGGGGGAAGCTGGCTTTGAGGAGTTCTGCCTGAGGGTTTACAGAGCCTCACCTGTCCCCAAGGTGGCAGAGCAGCTCATCAAGCCCTTTGGAGAGGATGATGATGATTTTGAGACCAACTGGATTGTCGACAGGAATTTGCAGGTATGGGGAGAGGGAGAGAAACCATACCATGGACCTTCCCCAAAGTGGACCCAAAGAGAGGACCCCACTGTTCTGTAGGGAGGCCTCACAGTGAATGATCAACCCTTCCCCTCCTCCCTCCTGCAGCCAGTCATTCACTCACAGGATTCTCACCTCAATCTTTGAGGCTGCAGGCAGGCACCCATCTCCCCATTTCACAGGCAGGGAAACTGAGGTCCAGAGAGAGGGAGAGATTCCTCCAAGTCATCAGGCACATACAAGGTCCTGCCTGGGATGATCTTTCTGTGGGACTTCTTCTGTCCCTGGTGACCAGGTGTCCCTGTTGGCTGTGGATGAGATGCACCAGGACCTGCCTCGGATGGAGCCGGACATGTACTGGAATAAGCCCGAGCCACAGCCCCCCTACACAGCTGCTTCCGCCCAGTTCCGTCGAGCCTCCTTTATGGGCTCCACCTTCAACATCAGGTGTGGCCAGAGCCAGGGGGCTGGGTGGGAAGCCCCTCCTAGTGCAGGGGTCTGCCTAGGAACTTAGAATAGCACTAGTTAATGCATACAGGTTGCTTCAGTAAGTGTCAGGCACTGTACTATGCTCTTTATAAACATTAACTATTTTTTTCCTCCCAATAATTCTGGTTTGTTATCCCAAGTTTTCAGATAATTAAAGTACAGGTTCAGAGAGAGTAAGTTGTCCAAGGCCACATAGCTACCAAATGGTGCATTTGCTACTCGAAGGACAGCCTGTGATCAGTGATGCAGTGGAACGTTAGGACCTGGCTCTTGTCATCCAGAACTATGTTTTCTTTTCTTTTTGAGACAGTATCTCGCTCTGTCGCCCAGGTTGGAGCGCAGTGGCGTGATCTTGGCTCACTGCAACCTCCGCCTCCTGGGTTCAAGTGATTCTCCTGCTTCAGCCTCCCCAGTAGCTGGGATTACAGGTGCCCACAACCACAACTGGCTAATTTTTGTACTTTTAGTAGAGATGAGGTTTCACCATGTTGGCCAGGCTGGTCTCCAACTCCTGACCAGTAATCTGCCCGCTTTGGCCTCCCAAAATGCTGGAATTATAGGTGTCAAAACTATGTTTTCTGATAAGCTACGATGCTTGGATGGGAAGTGGAAGTGGGGTTCCCTGGGATGGGGGAGGGGCAGCAAAGTCCCAGCAGGCAGCCAGGCCATCACAGGTACCTCCTGAATTGACTTTGTCCTACCGAGTAAAGGGCTCAGGCCACCCACAGCAGCCAGACTTATCCCCACATGGTCCCACTTCCCTGATTCCATCTGAATCCCTCTTGAGCTGCAGTGGGCTGAAGGGCTATCCCAGCTGGTCCTTTCTCCCCAGGACAACAGAGTTGAAAGTGCCTTGGAGAGTGTTGGGCACATGTCAGGGTTCATACTCAAGGGTTTCTTCCACGGTATCCAGTGCTGTTCTCGCTTGTTCTTTTCTTTTTTTTTTTTTAAACGGAGTTTCACTCTTGTTGCCCAGAGCTGGAGTGCAGTGGCATAATCTCGGCTCACTGCAACCTCCGCCTCCCAGATTCAAGCAATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTATAGGTGCCAGCCACCAAGCCCGGCTAATTTTTGTATTTTTAGTAGAGACAGTTTCACCATGTTGGCCAGGCTGGTCTCGAACTCCTGACCTCAGGTGATCCACCCTCCTCAGCCTCCCAAAGTGCTGGGATTACATGTGTGAGCCACTGTGCCTGGCTGCTTGTTCTTTTAAGAACCAAATATCCTACTAGACTGCAATCGAGTTTAACTACAGTCTATAGATAGTGTGAGGAAGGGTTGGGAAGGTGATCAAATGAAGGCTGGAGGCTTGCTTAGGTCAGAAACATTTCTGGAGGATGACTTTGAGCCCTACATGGTCTGTACCCCAGCAGCTGAAGGTTGTTGAGGGGTGGGGAGGGCTGAAAACAGAACGATAAAGCATAGACCTTGTCTCCAAGGAATGCACAA
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Task1_train_15945
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This is a variant in BEST1 (bestrophin 1), located on Chromosome 11. Is this mutation a likely cause of disease or not?
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Pathogenic; not provided
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ACTAGGCTGGTGAGGCTGCCCTTTTGGGAAACTGAGGCTAGAAGGACCAAGGAAGCAGCTGGGGTGGGAAGGGCTCACCTAGAGGCTAAGTGGCTCCCCTGGGAGTTGGGTCCACACTTTGAAGTTGGGTCTGGACTTTGAAGTGCCAAGTTCTAAGAGTCCAGGCTCCTGCCTGGCCCAGTCCAGTAGAGGCAATGTGATTATCCCCATATTAAAGAGAGGTTGGCCGGGTGCAGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAAGCTGAGGCAGGTGGATCACCTGAGGTCAGGAGTTCGAGACCAGCCTGGCCAACATGGTGAAACCCCATCTCTACTGAAAATACAGAATTAGCTGTGTGGTGGTGCACGCCTGTAATCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATCGCTTGAACCCGGGAGGTGGAGGTTGCAGTGAGCTGAGATCATGCCACTGCACTCCAGCCTGGGCGACACAGCAAGACTCTGTCTCAAACAAACAAACAAACAAACAAACAAAGGGGTTAACAGAGCCCCTAAGTCACATAAGTGTGCAAGTCAGAACAAGGCCTTGGTCTCCTGTCTCAGACTCCCAGCCCCTGGAGCATCCTGATTTCAGGGTTCCCACCTAGCCCTTTGCTACCACATCCTCCTCCTCCTCCCAGGTGGTGACTGTGGCGGTGTACAGCTTCTTCCTGACTTGTCTAGTTGGGCGGCAGTTTCTGAACCCAGCCAAGGCCTACCCTGGCCATGAGCTGGACCTCGTTGTGCCCGTCTTCACGTTCCTGCAGTTCTTCTTCTATGTTGGCTGGCTGAAGGTGGGCCTCTCCAGGGCCCTGCTGGGCTGGAGGCATGGCCAGAGGGGTCATGGCCAGCAGCTGCCTGAGACGAGGATGCAGTGTCAGGAAAGGAAGGTCTCACGGGTAGAAAGCAGCCAGGCGTGGTGGCGCACACCTGTAATCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATCGCTTGAACCCGGGAGGCGGAGGTTGTGGTGAGTTGAGATCGTGCCACTGCACTCCAGCCTGGGCAAAAGAATGAAACTCTATCTCAAAAACAACAACAACAACAAAACAAAGCCCTAAGGTTCAGAAGCCCCTGCCCTTTAGAAGGCAGATCGGCACCACCTCTCCTTATTCAAGATGCCTGTTGGGCTGTCTTGTTCCTCACCTCAAGTGGCTTGTCCAGGTATTCCCTCCCACCACAGCCAATACTCCGAACAGATGTTCTGAATCACACAGTTTTCTCTCCACCTCTTTATCTTTCCTTCCTTCTGTTGCCCACCCACTCTCTCTCCCTTCCTACCTTCCTTTATTTTTTGGTAATGGGGGTGTAAGTCTCTGTCTCTGCCCTTCCTGTCACTGTGACACACACACACACACACACACACACACACACATACACACACACACACACGCATTCCTATTCCTCTAAATTCCCCCTGCCCCCCCAGTTATCTTTGGTTTCTGCAGATCAAAACAAATCACACTTTTATGCTTGAAATTCTCCGGGGTGCCCCAGTGGCCTGCAAGATGTCCCCTGGACCCCTAAGGCAGACGCGTGTCACCTCTTCGGGGCTTTGTTAGGGCATTTTAGAGGTTGCTATCCAGGAATCTGCCCACCTAGACTGCCCTTTAGTTCAGCCCAGCTTCAGTATATATCTCTGTTGCATGAATGAATAAAATTATGCAACTCCAGGTAAGATACATGAGGTGAGATAAAGGCAGTGACTCAGCCGAGTGATACACTCAGGGACAGCTGTGGGTGTTCAGGGAAGGACTGGCTCAGAAGAGTTAGAGGGGCTGTGTCCAGAAGTGTGTGGGTGCCCACAAGTGTGGGGGGCTGGAGCCCTAAACTCTGCCTTTGAAGACAGTGGTCAGGCAGGAAGGGCGTCATGGGGTGTGGAAATAGCAGCAGCTGAGGTTTAAAGGGGGAAGCTGGCTTTGAGGAGTTCTGCCTGAGGGTTTACAGAGCCTCACCTGTCCCCAAGGTGGCAGAGCAGCTCATCAACCCCTTTGGAGAGGATGATGATGATTTTGAGACCAACTGGATTGTCGACAGGAATTTGCAGGTATGGGGAGAGGGAGAGAAACCATACCATGGACCTTCCCCAAAGTGGACCCAAAGAGAGGACCCCACTGTTCTGTAGGGAGGCCTCACAGTGAATGATCAACCCTTCCCCTCCTCCCTCCTGCAGCCAGTCATTCACTCACAGGATTCTCACCTCAATCTTTGAGGCTGCAGGCAGGCACCCATCTCCCCATTTCACAGGCAGGGAAACTGAGGTCCAGAGAGAGGGAGAGATTCCTCCAAGTCATCAGGCACATACAAGGTCCTGCCTGGGATGATCTTTCTGTGGGACTTCTTCTGTCCCTGGTGACCAGGTGTCCCTGTTGGCTGTGGATGAGATGCACCAGGACCTGCCTCGGATGGAGCCGGACATGTACTGGAATAAGCCCGAGCCACAGCCCCCCTACACAGCTGCTTCCGCCCAGTTCCGTCGAGCCTCCTTTATGGGCTCCACCTTCAACATCAGGTGTGGCCAGAGCCAGGGGGCTGGGTGGGAAGCCCCTCCTAGTGCAGGGGTCTGCCTAGGAACTTAGAATAGCACTAGTTAATGCATACAGGTTGCTTCAGTAAGTGTCAGGCACTGTACTATGCTCTTTATAAACATTAACTATTTTTTTCCTCCCAATAATTCTGGTTTGTTATCCCAAGTTTTCAGATAATTAAAGTACAGGTTCAGAGAGAGTAAGTTGTCCAAGGCCACATAGCTACCAAATGGTGCATTTGCTACTCGAAGGACAGCCTGTGATCAGTGATGCAGTGGAACGTTAGGACCTGGCTCTTGTCATCCAGAACTATGTTTTCTTTTCTTTTTGAGACAGTATCTCGCTCTGTCGCCCAGGTTGGAGCGCAGTGGCGTGATCTTGGCTCACTGCAACCTCCGCCTCCTGGGTTCAAGTGATTCTCCTGCTTCAGCCTCCCCAGTAGCTGGGATTACAGGTGCCCACAACCACAACTGGCTAATTTTTGTACTTTTAGTAGAGATGAGGTTTCACCATGTTGGCCAGGCTGGTCTCCAACTCCTGACCAGTAATCTGCCCGCTTTGGCCTCCCAAAATGCTGGAATTATAGGTGTCAAAACTATGTTTTCTGATAAGCTACGATGCTTGGATGGGAAGTGGAAGTGGGGTTCCCTGGGATGGGGGAGGGGCAGCAAAGTCCCAGCAGGCAGCCAGGCCATCACAGGTACCTCCTGAATTGACTTTGTCCTACCGAGTAAAGGGCTCAGGCCACCCACAGCAGCCAGACTTATCCCCACATGGTCCCACTTCCCTGATTCCATCTGAATCCCTCTTGAGCTGCAGTGGGCTGAAGGGCTATCCCAGCTGGTCCTTTCTCCCCAGGACAACAGAGTTGAAAGTGCCTTGGAGAGTGTTGGGCACATGTCAGGGTTCATACTCAAGGGTTTCTTCCACGGTATCCAGTGCTGTTCTCGCTTGTTCTTTTCTTTTTTTTTTTTTAAACGGAGTTTCACTCTTGTTGCCCAGAGCTGGAGTGCAGTGGCATAATCTCGGCTCACTGCAACCTCCGCCTCCCAGATTCAAGCAATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTATAGGTGCCAGCCACCAAGCCCGGCTAATTTTTGTATTTTTAGTAGAGACAGTTTCACCATGTTGGCCAGGCTGGTCTCGAACTCCTGACCTCAGGTGATCCACCCTCCTCAGCCTCCCAAAGTGCTGGGATTACATGTGTGAGCCACTGTGCCTGGCTGCTTGTTCTTTTAAGAACCAAATATCCTACTAGACTGCAATCGAGTTTAACTACAGTCTATAGATAGTGTGAGGAAGGGTTGGGAAGGTGATCAAATGAAGGCTGGAGGCTTGCTTAGGTCAGAAACATTTCTGGAGGATGACTTTGAGCCCTACATGGTCTGTACCCCAGCAGCTGAAGGTTGTTGAGGGGTGGGGAGGGCTGAAAACAGAACGATAAAGCATAGACCTTGTCTCCAAGGAATGCACAAT
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ACTAGGCTGGTGAGGCTGCCCTTTTGGGAAACTGAGGCTAGAAGGACCAAGGAAGCAGCTGGGGTGGGAAGGGCTCACCTAGAGGCTAAGTGGCTCCCCTGGGAGTTGGGTCCACACTTTGAAGTTGGGTCTGGACTTTGAAGTGCCAAGTTCTAAGAGTCCAGGCTCCTGCCTGGCCCAGTCCAGTAGAGGCAATGTGATTATCCCCATATTAAAGAGAGGTTGGCCGGGTGCAGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAAGCTGAGGCAGGTGGATCACCTGAGGTCAGGAGTTCGAGACCAGCCTGGCCAACATGGTGAAACCCCATCTCTACTGAAAATACAGAATTAGCTGTGTGGTGGTGCACGCCTGTAATCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATCGCTTGAACCCGGGAGGTGGAGGTTGCAGTGAGCTGAGATCATGCCACTGCACTCCAGCCTGGGCGACACAGCAAGACTCTGTCTCAAACAAACAAACAAACAAACAAACAAAGGGGTTAACAGAGCCCCTAAGTCACATAAGTGTGCAAGTCAGAACAAGGCCTTGGTCTCCTGTCTCAGACTCCCAGCCCCTGGAGCATCCTGATTTCAGGGTTCCCACCTAGCCCTTTGCTACCACATCCTCCTCCTCCTCCCAGGTGGTGACTGTGGCGGTGTACAGCTTCTTCCTGACTTGTCTAGTTGGGCGGCAGTTTCTGAACCCAGCCAAGGCCTACCCTGGCCATGAGCTGGACCTCGTTGTGCCCGTCTTCACGTTCCTGCAGTTCTTCTTCTATGTTGGCTGGCTGAAGGTGGGCCTCTCCAGGGCCCTGCTGGGCTGGAGGCATGGCCAGAGGGGTCATGGCCAGCAGCTGCCTGAGACGAGGATGCAGTGTCAGGAAAGGAAGGTCTCACGGGTAGAAAGCAGCCAGGCGTGGTGGCGCACACCTGTAATCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATCGCTTGAACCCGGGAGGCGGAGGTTGTGGTGAGTTGAGATCGTGCCACTGCACTCCAGCCTGGGCAAAAGAATGAAACTCTATCTCAAAAACAACAACAACAACAAAACAAAGCCCTAAGGTTCAGAAGCCCCTGCCCTTTAGAAGGCAGATCGGCACCACCTCTCCTTATTCAAGATGCCTGTTGGGCTGTCTTGTTCCTCACCTCAAGTGGCTTGTCCAGGTATTCCCTCCCACCACAGCCAATACTCCGAACAGATGTTCTGAATCACACAGTTTTCTCTCCACCTCTTTATCTTTCCTTCCTTCTGTTGCCCACCCACTCTCTCTCCCTTCCTACCTTCCTTTATTTTTTGGTAATGGGGGTGTAAGTCTCTGTCTCTGCCCTTCCTGTCACTGTGACACACACACACACACACACACACACACACACATACACACACACACACACGCATTCCTATTCCTCTAAATTCCCCCTGCCCCCCCAGTTATCTTTGGTTTCTGCAGATCAAAACAAATCACACTTTTATGCTTGAAATTCTCCGGGGTGCCCCAGTGGCCTGCAAGATGTCCCCTGGACCCCTAAGGCAGACGCGTGTCACCTCTTCGGGGCTTTGTTAGGGCATTTTAGAGGTTGCTATCCAGGAATCTGCCCACCTAGACTGCCCTTTAGTTCAGCCCAGCTTCAGTATATATCTCTGTTGCATGAATGAATAAAATTATGCAACTCCAGGTAAGATACATGAGGTGAGATAAAGGCAGTGACTCAGCCGAGTGATACACTCAGGGACAGCTGTGGGTGTTCAGGGAAGGACTGGCTCAGAAGAGTTAGAGGGGCTGTGTCCAGAAGTGTGTGGGTGCCCACAAGTGTGGGGGGCTGGAGCCCTAAACTCTGCCTTTGAAGACAGTGGTCAGGCAGGAAGGGCGTCATGGGGTGTGGAAATAGCAGCAGCTGAGGTTTAAAGGGGGAAGCTGGCTTTGAGGAGTTCTGCCTGAGGGTTTACAGAGCCTCACCTGTCCCCAAGGTGGCAGAGCAGCTCATCAACGCCTTTGGAGAGGATGATGATGATTTTGAGACCAACTGGATTGTCGACAGGAATTTGCAGGTATGGGGAGAGGGAGAGAAACCATACCATGGACCTTCCCCAAAGTGGACCCAAAGAGAGGACCCCACTGTTCTGTAGGGAGGCCTCACAGTGAATGATCAACCCTTCCCCTCCTCCCTCCTGCAGCCAGTCATTCACTCACAGGATTCTCACCTCAATCTTTGAGGCTGCAGGCAGGCACCCATCTCCCCATTTCACAGGCAGGGAAACTGAGGTCCAGAGAGAGGGAGAGATTCCTCCAAGTCATCAGGCACATACAAGGTCCTGCCTGGGATGATCTTTCTGTGGGACTTCTTCTGTCCCTGGTGACCAGGTGTCCCTGTTGGCTGTGGATGAGATGCACCAGGACCTGCCTCGGATGGAGCCGGACATGTACTGGAATAAGCCCGAGCCACAGCCCCCCTACACAGCTGCTTCCGCCCAGTTCCGTCGAGCCTCCTTTATGGGCTCCACCTTCAACATCAGGTGTGGCCAGAGCCAGGGGGCTGGGTGGGAAGCCCCTCCTAGTGCAGGGGTCTGCCTAGGAACTTAGAATAGCACTAGTTAATGCATACAGGTTGCTTCAGTAAGTGTCAGGCACTGTACTATGCTCTTTATAAACATTAACTATTTTTTTCCTCCCAATAATTCTGGTTTGTTATCCCAAGTTTTCAGATAATTAAAGTACAGGTTCAGAGAGAGTAAGTTGTCCAAGGCCACATAGCTACCAAATGGTGCATTTGCTACTCGAAGGACAGCCTGTGATCAGTGATGCAGTGGAACGTTAGGACCTGGCTCTTGTCATCCAGAACTATGTTTTCTTTTCTTTTTGAGACAGTATCTCGCTCTGTCGCCCAGGTTGGAGCGCAGTGGCGTGATCTTGGCTCACTGCAACCTCCGCCTCCTGGGTTCAAGTGATTCTCCTGCTTCAGCCTCCCCAGTAGCTGGGATTACAGGTGCCCACAACCACAACTGGCTAATTTTTGTACTTTTAGTAGAGATGAGGTTTCACCATGTTGGCCAGGCTGGTCTCCAACTCCTGACCAGTAATCTGCCCGCTTTGGCCTCCCAAAATGCTGGAATTATAGGTGTCAAAACTATGTTTTCTGATAAGCTACGATGCTTGGATGGGAAGTGGAAGTGGGGTTCCCTGGGATGGGGGAGGGGCAGCAAAGTCCCAGCAGGCAGCCAGGCCATCACAGGTACCTCCTGAATTGACTTTGTCCTACCGAGTAAAGGGCTCAGGCCACCCACAGCAGCCAGACTTATCCCCACATGGTCCCACTTCCCTGATTCCATCTGAATCCCTCTTGAGCTGCAGTGGGCTGAAGGGCTATCCCAGCTGGTCCTTTCTCCCCAGGACAACAGAGTTGAAAGTGCCTTGGAGAGTGTTGGGCACATGTCAGGGTTCATACTCAAGGGTTTCTTCCACGGTATCCAGTGCTGTTCTCGCTTGTTCTTTTCTTTTTTTTTTTTTAAACGGAGTTTCACTCTTGTTGCCCAGAGCTGGAGTGCAGTGGCATAATCTCGGCTCACTGCAACCTCCGCCTCCCAGATTCAAGCAATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTATAGGTGCCAGCCACCAAGCCCGGCTAATTTTTGTATTTTTAGTAGAGACAGTTTCACCATGTTGGCCAGGCTGGTCTCGAACTCCTGACCTCAGGTGATCCACCCTCCTCAGCCTCCCAAAGTGCTGGGATTACATGTGTGAGCCACTGTGCCTGGCTGCTTGTTCTTTTAAGAACCAAATATCCTACTAGACTGCAATCGAGTTTAACTACAGTCTATAGATAGTGTGAGGAAGGGTTGGGAAGGTGATCAAATGAAGGCTGGAGGCTTGCTTAGGTCAGAAACATTTCTGGAGGATGACTTTGAGCCCTACATGGTCTGTACCCCAGCAGCTGAAGGTTGTTGAGGGGTGGGGAGGGCTGAAAACAGAACGATAAAGCATAGACCTTGTCTCCAAGGAATGCACAAT
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Task1_train_15946
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A mutation on Chromosome 11 affecting BEST1 (bestrophin 1) has been found. Is it harmful or harmless? What disease, if any, does it cause?
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Pathogenic; not provided
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CTAGGCTGGTGAGGCTGCCCTTTTGGGAAACTGAGGCTAGAAGGACCAAGGAAGCAGCTGGGGTGGGAAGGGCTCACCTAGAGGCTAAGTGGCTCCCCTGGGAGTTGGGTCCACACTTTGAAGTTGGGTCTGGACTTTGAAGTGCCAAGTTCTAAGAGTCCAGGCTCCTGCCTGGCCCAGTCCAGTAGAGGCAATGTGATTATCCCCATATTAAAGAGAGGTTGGCCGGGTGCAGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAAGCTGAGGCAGGTGGATCACCTGAGGTCAGGAGTTCGAGACCAGCCTGGCCAACATGGTGAAACCCCATCTCTACTGAAAATACAGAATTAGCTGTGTGGTGGTGCACGCCTGTAATCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATCGCTTGAACCCGGGAGGTGGAGGTTGCAGTGAGCTGAGATCATGCCACTGCACTCCAGCCTGGGCGACACAGCAAGACTCTGTCTCAAACAAACAAACAAACAAACAAACAAAGGGGTTAACAGAGCCCCTAAGTCACATAAGTGTGCAAGTCAGAACAAGGCCTTGGTCTCCTGTCTCAGACTCCCAGCCCCTGGAGCATCCTGATTTCAGGGTTCCCACCTAGCCCTTTGCTACCACATCCTCCTCCTCCTCCCAGGTGGTGACTGTGGCGGTGTACAGCTTCTTCCTGACTTGTCTAGTTGGGCGGCAGTTTCTGAACCCAGCCAAGGCCTACCCTGGCCATGAGCTGGACCTCGTTGTGCCCGTCTTCACGTTCCTGCAGTTCTTCTTCTATGTTGGCTGGCTGAAGGTGGGCCTCTCCAGGGCCCTGCTGGGCTGGAGGCATGGCCAGAGGGGTCATGGCCAGCAGCTGCCTGAGACGAGGATGCAGTGTCAGGAAAGGAAGGTCTCACGGGTAGAAAGCAGCCAGGCGTGGTGGCGCACACCTGTAATCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATCGCTTGAACCCGGGAGGCGGAGGTTGTGGTGAGTTGAGATCGTGCCACTGCACTCCAGCCTGGGCAAAAGAATGAAACTCTATCTCAAAAACAACAACAACAACAAAACAAAGCCCTAAGGTTCAGAAGCCCCTGCCCTTTAGAAGGCAGATCGGCACCACCTCTCCTTATTCAAGATGCCTGTTGGGCTGTCTTGTTCCTCACCTCAAGTGGCTTGTCCAGGTATTCCCTCCCACCACAGCCAATACTCCGAACAGATGTTCTGAATCACACAGTTTTCTCTCCACCTCTTTATCTTTCCTTCCTTCTGTTGCCCACCCACTCTCTCTCCCTTCCTACCTTCCTTTATTTTTTGGTAATGGGGGTGTAAGTCTCTGTCTCTGCCCTTCCTGTCACTGTGACACACACACACACACACACACACACACACACATACACACACACACACACGCATTCCTATTCCTCTAAATTCCCCCTGCCCCCCCAGTTATCTTTGGTTTCTGCAGATCAAAACAAATCACACTTTTATGCTTGAAATTCTCCGGGGTGCCCCAGTGGCCTGCAAGATGTCCCCTGGACCCCTAAGGCAGACGCGTGTCACCTCTTCGGGGCTTTGTTAGGGCATTTTAGAGGTTGCTATCCAGGAATCTGCCCACCTAGACTGCCCTTTAGTTCAGCCCAGCTTCAGTATATATCTCTGTTGCATGAATGAATAAAATTATGCAACTCCAGGTAAGATACATGAGGTGAGATAAAGGCAGTGACTCAGCCGAGTGATACACTCAGGGACAGCTGTGGGTGTTCAGGGAAGGACTGGCTCAGAAGAGTTAGAGGGGCTGTGTCCAGAAGTGTGTGGGTGCCCACAAGTGTGGGGGGCTGGAGCCCTAAACTCTGCCTTTGAAGACAGTGGTCAGGCAGGAAGGGCGTCATGGGGTGTGGAAATAGCAGCAGCTGAGGTTTAAAGGGGGAAGCTGGCTTTGAGGAGTTCTGCCTGAGGGTTTACAGAGCCTCACCTGTCCCCAAGGTGGCAGAGCAGCTCATCAACCCCTTTGGAGAGGATGATGATGATTTTGAGACCAACTGGATTGTCGACAGGAATTTGCAGGTATGGGGAGAGGGAGAGAAACCATACCATGGACCTTCCCCAAAGTGGACCCAAAGAGAGGACCCCACTGTTCTGTAGGGAGGCCTCACAGTGAATGATCAACCCTTCCCCTCCTCCCTCCTGCAGCCAGTCATTCACTCACAGGATTCTCACCTCAATCTTTGAGGCTGCAGGCAGGCACCCATCTCCCCATTTCACAGGCAGGGAAACTGAGGTCCAGAGAGAGGGAGAGATTCCTCCAAGTCATCAGGCACATACAAGGTCCTGCCTGGGATGATCTTTCTGTGGGACTTCTTCTGTCCCTGGTGACCAGGTGTCCCTGTTGGCTGTGGATGAGATGCACCAGGACCTGCCTCGGATGGAGCCGGACATGTACTGGAATAAGCCCGAGCCACAGCCCCCCTACACAGCTGCTTCCGCCCAGTTCCGTCGAGCCTCCTTTATGGGCTCCACCTTCAACATCAGGTGTGGCCAGAGCCAGGGGGCTGGGTGGGAAGCCCCTCCTAGTGCAGGGGTCTGCCTAGGAACTTAGAATAGCACTAGTTAATGCATACAGGTTGCTTCAGTAAGTGTCAGGCACTGTACTATGCTCTTTATAAACATTAACTATTTTTTTCCTCCCAATAATTCTGGTTTGTTATCCCAAGTTTTCAGATAATTAAAGTACAGGTTCAGAGAGAGTAAGTTGTCCAAGGCCACATAGCTACCAAATGGTGCATTTGCTACTCGAAGGACAGCCTGTGATCAGTGATGCAGTGGAACGTTAGGACCTGGCTCTTGTCATCCAGAACTATGTTTTCTTTTCTTTTTGAGACAGTATCTCGCTCTGTCGCCCAGGTTGGAGCGCAGTGGCGTGATCTTGGCTCACTGCAACCTCCGCCTCCTGGGTTCAAGTGATTCTCCTGCTTCAGCCTCCCCAGTAGCTGGGATTACAGGTGCCCACAACCACAACTGGCTAATTTTTGTACTTTTAGTAGAGATGAGGTTTCACCATGTTGGCCAGGCTGGTCTCCAACTCCTGACCAGTAATCTGCCCGCTTTGGCCTCCCAAAATGCTGGAATTATAGGTGTCAAAACTATGTTTTCTGATAAGCTACGATGCTTGGATGGGAAGTGGAAGTGGGGTTCCCTGGGATGGGGGAGGGGCAGCAAAGTCCCAGCAGGCAGCCAGGCCATCACAGGTACCTCCTGAATTGACTTTGTCCTACCGAGTAAAGGGCTCAGGCCACCCACAGCAGCCAGACTTATCCCCACATGGTCCCACTTCCCTGATTCCATCTGAATCCCTCTTGAGCTGCAGTGGGCTGAAGGGCTATCCCAGCTGGTCCTTTCTCCCCAGGACAACAGAGTTGAAAGTGCCTTGGAGAGTGTTGGGCACATGTCAGGGTTCATACTCAAGGGTTTCTTCCACGGTATCCAGTGCTGTTCTCGCTTGTTCTTTTCTTTTTTTTTTTTTAAACGGAGTTTCACTCTTGTTGCCCAGAGCTGGAGTGCAGTGGCATAATCTCGGCTCACTGCAACCTCCGCCTCCCAGATTCAAGCAATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTATAGGTGCCAGCCACCAAGCCCGGCTAATTTTTGTATTTTTAGTAGAGACAGTTTCACCATGTTGGCCAGGCTGGTCTCGAACTCCTGACCTCAGGTGATCCACCCTCCTCAGCCTCCCAAAGTGCTGGGATTACATGTGTGAGCCACTGTGCCTGGCTGCTTGTTCTTTTAAGAACCAAATATCCTACTAGACTGCAATCGAGTTTAACTACAGTCTATAGATAGTGTGAGGAAGGGTTGGGAAGGTGATCAAATGAAGGCTGGAGGCTTGCTTAGGTCAGAAACATTTCTGGAGGATGACTTTGAGCCCTACATGGTCTGTACCCCAGCAGCTGAAGGTTGTTGAGGGGTGGGGAGGGCTGAAAACAGAACGATAAAGCATAGACCTTGTCTCCAAGGAATGCACAATT
|
CTAGGCTGGTGAGGCTGCCCTTTTGGGAAACTGAGGCTAGAAGGACCAAGGAAGCAGCTGGGGTGGGAAGGGCTCACCTAGAGGCTAAGTGGCTCCCCTGGGAGTTGGGTCCACACTTTGAAGTTGGGTCTGGACTTTGAAGTGCCAAGTTCTAAGAGTCCAGGCTCCTGCCTGGCCCAGTCCAGTAGAGGCAATGTGATTATCCCCATATTAAAGAGAGGTTGGCCGGGTGCAGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAAGCTGAGGCAGGTGGATCACCTGAGGTCAGGAGTTCGAGACCAGCCTGGCCAACATGGTGAAACCCCATCTCTACTGAAAATACAGAATTAGCTGTGTGGTGGTGCACGCCTGTAATCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATCGCTTGAACCCGGGAGGTGGAGGTTGCAGTGAGCTGAGATCATGCCACTGCACTCCAGCCTGGGCGACACAGCAAGACTCTGTCTCAAACAAACAAACAAACAAACAAACAAAGGGGTTAACAGAGCCCCTAAGTCACATAAGTGTGCAAGTCAGAACAAGGCCTTGGTCTCCTGTCTCAGACTCCCAGCCCCTGGAGCATCCTGATTTCAGGGTTCCCACCTAGCCCTTTGCTACCACATCCTCCTCCTCCTCCCAGGTGGTGACTGTGGCGGTGTACAGCTTCTTCCTGACTTGTCTAGTTGGGCGGCAGTTTCTGAACCCAGCCAAGGCCTACCCTGGCCATGAGCTGGACCTCGTTGTGCCCGTCTTCACGTTCCTGCAGTTCTTCTTCTATGTTGGCTGGCTGAAGGTGGGCCTCTCCAGGGCCCTGCTGGGCTGGAGGCATGGCCAGAGGGGTCATGGCCAGCAGCTGCCTGAGACGAGGATGCAGTGTCAGGAAAGGAAGGTCTCACGGGTAGAAAGCAGCCAGGCGTGGTGGCGCACACCTGTAATCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATCGCTTGAACCCGGGAGGCGGAGGTTGTGGTGAGTTGAGATCGTGCCACTGCACTCCAGCCTGGGCAAAAGAATGAAACTCTATCTCAAAAACAACAACAACAACAAAACAAAGCCCTAAGGTTCAGAAGCCCCTGCCCTTTAGAAGGCAGATCGGCACCACCTCTCCTTATTCAAGATGCCTGTTGGGCTGTCTTGTTCCTCACCTCAAGTGGCTTGTCCAGGTATTCCCTCCCACCACAGCCAATACTCCGAACAGATGTTCTGAATCACACAGTTTTCTCTCCACCTCTTTATCTTTCCTTCCTTCTGTTGCCCACCCACTCTCTCTCCCTTCCTACCTTCCTTTATTTTTTGGTAATGGGGGTGTAAGTCTCTGTCTCTGCCCTTCCTGTCACTGTGACACACACACACACACACACACACACACACACATACACACACACACACACGCATTCCTATTCCTCTAAATTCCCCCTGCCCCCCCAGTTATCTTTGGTTTCTGCAGATCAAAACAAATCACACTTTTATGCTTGAAATTCTCCGGGGTGCCCCAGTGGCCTGCAAGATGTCCCCTGGACCCCTAAGGCAGACGCGTGTCACCTCTTCGGGGCTTTGTTAGGGCATTTTAGAGGTTGCTATCCAGGAATCTGCCCACCTAGACTGCCCTTTAGTTCAGCCCAGCTTCAGTATATATCTCTGTTGCATGAATGAATAAAATTATGCAACTCCAGGTAAGATACATGAGGTGAGATAAAGGCAGTGACTCAGCCGAGTGATACACTCAGGGACAGCTGTGGGTGTTCAGGGAAGGACTGGCTCAGAAGAGTTAGAGGGGCTGTGTCCAGAAGTGTGTGGGTGCCCACAAGTGTGGGGGGCTGGAGCCCTAAACTCTGCCTTTGAAGACAGTGGTCAGGCAGGAAGGGCGTCATGGGGTGTGGAAATAGCAGCAGCTGAGGTTTAAAGGGGGAAGCTGGCTTTGAGGAGTTCTGCCTGAGGGTTTACAGAGCCTCACCTGTCCCCAAGGTGGCAGAGCAGCTCATCAACCACTTTGGAGAGGATGATGATGATTTTGAGACCAACTGGATTGTCGACAGGAATTTGCAGGTATGGGGAGAGGGAGAGAAACCATACCATGGACCTTCCCCAAAGTGGACCCAAAGAGAGGACCCCACTGTTCTGTAGGGAGGCCTCACAGTGAATGATCAACCCTTCCCCTCCTCCCTCCTGCAGCCAGTCATTCACTCACAGGATTCTCACCTCAATCTTTGAGGCTGCAGGCAGGCACCCATCTCCCCATTTCACAGGCAGGGAAACTGAGGTCCAGAGAGAGGGAGAGATTCCTCCAAGTCATCAGGCACATACAAGGTCCTGCCTGGGATGATCTTTCTGTGGGACTTCTTCTGTCCCTGGTGACCAGGTGTCCCTGTTGGCTGTGGATGAGATGCACCAGGACCTGCCTCGGATGGAGCCGGACATGTACTGGAATAAGCCCGAGCCACAGCCCCCCTACACAGCTGCTTCCGCCCAGTTCCGTCGAGCCTCCTTTATGGGCTCCACCTTCAACATCAGGTGTGGCCAGAGCCAGGGGGCTGGGTGGGAAGCCCCTCCTAGTGCAGGGGTCTGCCTAGGAACTTAGAATAGCACTAGTTAATGCATACAGGTTGCTTCAGTAAGTGTCAGGCACTGTACTATGCTCTTTATAAACATTAACTATTTTTTTCCTCCCAATAATTCTGGTTTGTTATCCCAAGTTTTCAGATAATTAAAGTACAGGTTCAGAGAGAGTAAGTTGTCCAAGGCCACATAGCTACCAAATGGTGCATTTGCTACTCGAAGGACAGCCTGTGATCAGTGATGCAGTGGAACGTTAGGACCTGGCTCTTGTCATCCAGAACTATGTTTTCTTTTCTTTTTGAGACAGTATCTCGCTCTGTCGCCCAGGTTGGAGCGCAGTGGCGTGATCTTGGCTCACTGCAACCTCCGCCTCCTGGGTTCAAGTGATTCTCCTGCTTCAGCCTCCCCAGTAGCTGGGATTACAGGTGCCCACAACCACAACTGGCTAATTTTTGTACTTTTAGTAGAGATGAGGTTTCACCATGTTGGCCAGGCTGGTCTCCAACTCCTGACCAGTAATCTGCCCGCTTTGGCCTCCCAAAATGCTGGAATTATAGGTGTCAAAACTATGTTTTCTGATAAGCTACGATGCTTGGATGGGAAGTGGAAGTGGGGTTCCCTGGGATGGGGGAGGGGCAGCAAAGTCCCAGCAGGCAGCCAGGCCATCACAGGTACCTCCTGAATTGACTTTGTCCTACCGAGTAAAGGGCTCAGGCCACCCACAGCAGCCAGACTTATCCCCACATGGTCCCACTTCCCTGATTCCATCTGAATCCCTCTTGAGCTGCAGTGGGCTGAAGGGCTATCCCAGCTGGTCCTTTCTCCCCAGGACAACAGAGTTGAAAGTGCCTTGGAGAGTGTTGGGCACATGTCAGGGTTCATACTCAAGGGTTTCTTCCACGGTATCCAGTGCTGTTCTCGCTTGTTCTTTTCTTTTTTTTTTTTTAAACGGAGTTTCACTCTTGTTGCCCAGAGCTGGAGTGCAGTGGCATAATCTCGGCTCACTGCAACCTCCGCCTCCCAGATTCAAGCAATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTATAGGTGCCAGCCACCAAGCCCGGCTAATTTTTGTATTTTTAGTAGAGACAGTTTCACCATGTTGGCCAGGCTGGTCTCGAACTCCTGACCTCAGGTGATCCACCCTCCTCAGCCTCCCAAAGTGCTGGGATTACATGTGTGAGCCACTGTGCCTGGCTGCTTGTTCTTTTAAGAACCAAATATCCTACTAGACTGCAATCGAGTTTAACTACAGTCTATAGATAGTGTGAGGAAGGGTTGGGAAGGTGATCAAATGAAGGCTGGAGGCTTGCTTAGGTCAGAAACATTTCTGGAGGATGACTTTGAGCCCTACATGGTCTGTACCCCAGCAGCTGAAGGTTGTTGAGGGGTGGGGAGGGCTGAAAACAGAACGATAAAGCATAGACCTTGTCTCCAAGGAATGCACAATT
|
Task1_train_15947
|
This is a variant in BEST1 (bestrophin 1), located on Chromosome 11. Is this mutation a likely cause of disease or not?
|
Pathogenic; Retinal dystrophy
|
GGCTGGTGAGGCTGCCCTTTTGGGAAACTGAGGCTAGAAGGACCAAGGAAGCAGCTGGGGTGGGAAGGGCTCACCTAGAGGCTAAGTGGCTCCCCTGGGAGTTGGGTCCACACTTTGAAGTTGGGTCTGGACTTTGAAGTGCCAAGTTCTAAGAGTCCAGGCTCCTGCCTGGCCCAGTCCAGTAGAGGCAATGTGATTATCCCCATATTAAAGAGAGGTTGGCCGGGTGCAGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAAGCTGAGGCAGGTGGATCACCTGAGGTCAGGAGTTCGAGACCAGCCTGGCCAACATGGTGAAACCCCATCTCTACTGAAAATACAGAATTAGCTGTGTGGTGGTGCACGCCTGTAATCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATCGCTTGAACCCGGGAGGTGGAGGTTGCAGTGAGCTGAGATCATGCCACTGCACTCCAGCCTGGGCGACACAGCAAGACTCTGTCTCAAACAAACAAACAAACAAACAAACAAAGGGGTTAACAGAGCCCCTAAGTCACATAAGTGTGCAAGTCAGAACAAGGCCTTGGTCTCCTGTCTCAGACTCCCAGCCCCTGGAGCATCCTGATTTCAGGGTTCCCACCTAGCCCTTTGCTACCACATCCTCCTCCTCCTCCCAGGTGGTGACTGTGGCGGTGTACAGCTTCTTCCTGACTTGTCTAGTTGGGCGGCAGTTTCTGAACCCAGCCAAGGCCTACCCTGGCCATGAGCTGGACCTCGTTGTGCCCGTCTTCACGTTCCTGCAGTTCTTCTTCTATGTTGGCTGGCTGAAGGTGGGCCTCTCCAGGGCCCTGCTGGGCTGGAGGCATGGCCAGAGGGGTCATGGCCAGCAGCTGCCTGAGACGAGGATGCAGTGTCAGGAAAGGAAGGTCTCACGGGTAGAAAGCAGCCAGGCGTGGTGGCGCACACCTGTAATCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATCGCTTGAACCCGGGAGGCGGAGGTTGTGGTGAGTTGAGATCGTGCCACTGCACTCCAGCCTGGGCAAAAGAATGAAACTCTATCTCAAAAACAACAACAACAACAAAACAAAGCCCTAAGGTTCAGAAGCCCCTGCCCTTTAGAAGGCAGATCGGCACCACCTCTCCTTATTCAAGATGCCTGTTGGGCTGTCTTGTTCCTCACCTCAAGTGGCTTGTCCAGGTATTCCCTCCCACCACAGCCAATACTCCGAACAGATGTTCTGAATCACACAGTTTTCTCTCCACCTCTTTATCTTTCCTTCCTTCTGTTGCCCACCCACTCTCTCTCCCTTCCTACCTTCCTTTATTTTTTGGTAATGGGGGTGTAAGTCTCTGTCTCTGCCCTTCCTGTCACTGTGACACACACACACACACACACACACACACACACATACACACACACACACACGCATTCCTATTCCTCTAAATTCCCCCTGCCCCCCCAGTTATCTTTGGTTTCTGCAGATCAAAACAAATCACACTTTTATGCTTGAAATTCTCCGGGGTGCCCCAGTGGCCTGCAAGATGTCCCCTGGACCCCTAAGGCAGACGCGTGTCACCTCTTCGGGGCTTTGTTAGGGCATTTTAGAGGTTGCTATCCAGGAATCTGCCCACCTAGACTGCCCTTTAGTTCAGCCCAGCTTCAGTATATATCTCTGTTGCATGAATGAATAAAATTATGCAACTCCAGGTAAGATACATGAGGTGAGATAAAGGCAGTGACTCAGCCGAGTGATACACTCAGGGACAGCTGTGGGTGTTCAGGGAAGGACTGGCTCAGAAGAGTTAGAGGGGCTGTGTCCAGAAGTGTGTGGGTGCCCACAAGTGTGGGGGGCTGGAGCCCTAAACTCTGCCTTTGAAGACAGTGGTCAGGCAGGAAGGGCGTCATGGGGTGTGGAAATAGCAGCAGCTGAGGTTTAAAGGGGGAAGCTGGCTTTGAGGAGTTCTGCCTGAGGGTTTACAGAGCCTCACCTGTCCCCAAGGTGGCAGAGCAGCTCATCAACCCCTTTGGAGAGGATGATGATGATTTTGAGACCAACTGGATTGTCGACAGGAATTTGCAGGTATGGGGAGAGGGAGAGAAACCATACCATGGACCTTCCCCAAAGTGGACCCAAAGAGAGGACCCCACTGTTCTGTAGGGAGGCCTCACAGTGAATGATCAACCCTTCCCCTCCTCCCTCCTGCAGCCAGTCATTCACTCACAGGATTCTCACCTCAATCTTTGAGGCTGCAGGCAGGCACCCATCTCCCCATTTCACAGGCAGGGAAACTGAGGTCCAGAGAGAGGGAGAGATTCCTCCAAGTCATCAGGCACATACAAGGTCCTGCCTGGGATGATCTTTCTGTGGGACTTCTTCTGTCCCTGGTGACCAGGTGTCCCTGTTGGCTGTGGATGAGATGCACCAGGACCTGCCTCGGATGGAGCCGGACATGTACTGGAATAAGCCCGAGCCACAGCCCCCCTACACAGCTGCTTCCGCCCAGTTCCGTCGAGCCTCCTTTATGGGCTCCACCTTCAACATCAGGTGTGGCCAGAGCCAGGGGGCTGGGTGGGAAGCCCCTCCTAGTGCAGGGGTCTGCCTAGGAACTTAGAATAGCACTAGTTAATGCATACAGGTTGCTTCAGTAAGTGTCAGGCACTGTACTATGCTCTTTATAAACATTAACTATTTTTTTCCTCCCAATAATTCTGGTTTGTTATCCCAAGTTTTCAGATAATTAAAGTACAGGTTCAGAGAGAGTAAGTTGTCCAAGGCCACATAGCTACCAAATGGTGCATTTGCTACTCGAAGGACAGCCTGTGATCAGTGATGCAGTGGAACGTTAGGACCTGGCTCTTGTCATCCAGAACTATGTTTTCTTTTCTTTTTGAGACAGTATCTCGCTCTGTCGCCCAGGTTGGAGCGCAGTGGCGTGATCTTGGCTCACTGCAACCTCCGCCTCCTGGGTTCAAGTGATTCTCCTGCTTCAGCCTCCCCAGTAGCTGGGATTACAGGTGCCCACAACCACAACTGGCTAATTTTTGTACTTTTAGTAGAGATGAGGTTTCACCATGTTGGCCAGGCTGGTCTCCAACTCCTGACCAGTAATCTGCCCGCTTTGGCCTCCCAAAATGCTGGAATTATAGGTGTCAAAACTATGTTTTCTGATAAGCTACGATGCTTGGATGGGAAGTGGAAGTGGGGTTCCCTGGGATGGGGGAGGGGCAGCAAAGTCCCAGCAGGCAGCCAGGCCATCACAGGTACCTCCTGAATTGACTTTGTCCTACCGAGTAAAGGGCTCAGGCCACCCACAGCAGCCAGACTTATCCCCACATGGTCCCACTTCCCTGATTCCATCTGAATCCCTCTTGAGCTGCAGTGGGCTGAAGGGCTATCCCAGCTGGTCCTTTCTCCCCAGGACAACAGAGTTGAAAGTGCCTTGGAGAGTGTTGGGCACATGTCAGGGTTCATACTCAAGGGTTTCTTCCACGGTATCCAGTGCTGTTCTCGCTTGTTCTTTTCTTTTTTTTTTTTTAAACGGAGTTTCACTCTTGTTGCCCAGAGCTGGAGTGCAGTGGCATAATCTCGGCTCACTGCAACCTCCGCCTCCCAGATTCAAGCAATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTATAGGTGCCAGCCACCAAGCCCGGCTAATTTTTGTATTTTTAGTAGAGACAGTTTCACCATGTTGGCCAGGCTGGTCTCGAACTCCTGACCTCAGGTGATCCACCCTCCTCAGCCTCCCAAAGTGCTGGGATTACATGTGTGAGCCACTGTGCCTGGCTGCTTGTTCTTTTAAGAACCAAATATCCTACTAGACTGCAATCGAGTTTAACTACAGTCTATAGATAGTGTGAGGAAGGGTTGGGAAGGTGATCAAATGAAGGCTGGAGGCTTGCTTAGGTCAGAAACATTTCTGGAGGATGACTTTGAGCCCTACATGGTCTGTACCCCAGCAGCTGAAGGTTGTTGAGGGGTGGGGAGGGCTGAAAACAGAACGATAAAGCATAGACCTTGTCTCCAAGGAATGCACAATTTAT
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GGCTGGTGAGGCTGCCCTTTTGGGAAACTGAGGCTAGAAGGACCAAGGAAGCAGCTGGGGTGGGAAGGGCTCACCTAGAGGCTAAGTGGCTCCCCTGGGAGTTGGGTCCACACTTTGAAGTTGGGTCTGGACTTTGAAGTGCCAAGTTCTAAGAGTCCAGGCTCCTGCCTGGCCCAGTCCAGTAGAGGCAATGTGATTATCCCCATATTAAAGAGAGGTTGGCCGGGTGCAGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAAGCTGAGGCAGGTGGATCACCTGAGGTCAGGAGTTCGAGACCAGCCTGGCCAACATGGTGAAACCCCATCTCTACTGAAAATACAGAATTAGCTGTGTGGTGGTGCACGCCTGTAATCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATCGCTTGAACCCGGGAGGTGGAGGTTGCAGTGAGCTGAGATCATGCCACTGCACTCCAGCCTGGGCGACACAGCAAGACTCTGTCTCAAACAAACAAACAAACAAACAAACAAAGGGGTTAACAGAGCCCCTAAGTCACATAAGTGTGCAAGTCAGAACAAGGCCTTGGTCTCCTGTCTCAGACTCCCAGCCCCTGGAGCATCCTGATTTCAGGGTTCCCACCTAGCCCTTTGCTACCACATCCTCCTCCTCCTCCCAGGTGGTGACTGTGGCGGTGTACAGCTTCTTCCTGACTTGTCTAGTTGGGCGGCAGTTTCTGAACCCAGCCAAGGCCTACCCTGGCCATGAGCTGGACCTCGTTGTGCCCGTCTTCACGTTCCTGCAGTTCTTCTTCTATGTTGGCTGGCTGAAGGTGGGCCTCTCCAGGGCCCTGCTGGGCTGGAGGCATGGCCAGAGGGGTCATGGCCAGCAGCTGCCTGAGACGAGGATGCAGTGTCAGGAAAGGAAGGTCTCACGGGTAGAAAGCAGCCAGGCGTGGTGGCGCACACCTGTAATCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATCGCTTGAACCCGGGAGGCGGAGGTTGTGGTGAGTTGAGATCGTGCCACTGCACTCCAGCCTGGGCAAAAGAATGAAACTCTATCTCAAAAACAACAACAACAACAAAACAAAGCCCTAAGGTTCAGAAGCCCCTGCCCTTTAGAAGGCAGATCGGCACCACCTCTCCTTATTCAAGATGCCTGTTGGGCTGTCTTGTTCCTCACCTCAAGTGGCTTGTCCAGGTATTCCCTCCCACCACAGCCAATACTCCGAACAGATGTTCTGAATCACACAGTTTTCTCTCCACCTCTTTATCTTTCCTTCCTTCTGTTGCCCACCCACTCTCTCTCCCTTCCTACCTTCCTTTATTTTTTGGTAATGGGGGTGTAAGTCTCTGTCTCTGCCCTTCCTGTCACTGTGACACACACACACACACACACACACACACACACATACACACACACACACACGCATTCCTATTCCTCTAAATTCCCCCTGCCCCCCCAGTTATCTTTGGTTTCTGCAGATCAAAACAAATCACACTTTTATGCTTGAAATTCTCCGGGGTGCCCCAGTGGCCTGCAAGATGTCCCCTGGACCCCTAAGGCAGACGCGTGTCACCTCTTCGGGGCTTTGTTAGGGCATTTTAGAGGTTGCTATCCAGGAATCTGCCCACCTAGACTGCCCTTTAGTTCAGCCCAGCTTCAGTATATATCTCTGTTGCATGAATGAATAAAATTATGCAACTCCAGGTAAGATACATGAGGTGAGATAAAGGCAGTGACTCAGCCGAGTGATACACTCAGGGACAGCTGTGGGTGTTCAGGGAAGGACTGGCTCAGAAGAGTTAGAGGGGCTGTGTCCAGAAGTGTGTGGGTGCCCACAAGTGTGGGGGGCTGGAGCCCTAAACTCTGCCTTTGAAGACAGTGGTCAGGCAGGAAGGGCGTCATGGGGTGTGGAAATAGCAGCAGCTGAGGTTTAAAGGGGGAAGCTGGCTTTGAGGAGTTCTGCCTGAGGGTTTACAGAGCCTCACCTGTCCCCAAGGTGGCAGAGCAGCTCATCAACCCCTCTGGAGAGGATGATGATGATTTTGAGACCAACTGGATTGTCGACAGGAATTTGCAGGTATGGGGAGAGGGAGAGAAACCATACCATGGACCTTCCCCAAAGTGGACCCAAAGAGAGGACCCCACTGTTCTGTAGGGAGGCCTCACAGTGAATGATCAACCCTTCCCCTCCTCCCTCCTGCAGCCAGTCATTCACTCACAGGATTCTCACCTCAATCTTTGAGGCTGCAGGCAGGCACCCATCTCCCCATTTCACAGGCAGGGAAACTGAGGTCCAGAGAGAGGGAGAGATTCCTCCAAGTCATCAGGCACATACAAGGTCCTGCCTGGGATGATCTTTCTGTGGGACTTCTTCTGTCCCTGGTGACCAGGTGTCCCTGTTGGCTGTGGATGAGATGCACCAGGACCTGCCTCGGATGGAGCCGGACATGTACTGGAATAAGCCCGAGCCACAGCCCCCCTACACAGCTGCTTCCGCCCAGTTCCGTCGAGCCTCCTTTATGGGCTCCACCTTCAACATCAGGTGTGGCCAGAGCCAGGGGGCTGGGTGGGAAGCCCCTCCTAGTGCAGGGGTCTGCCTAGGAACTTAGAATAGCACTAGTTAATGCATACAGGTTGCTTCAGTAAGTGTCAGGCACTGTACTATGCTCTTTATAAACATTAACTATTTTTTTCCTCCCAATAATTCTGGTTTGTTATCCCAAGTTTTCAGATAATTAAAGTACAGGTTCAGAGAGAGTAAGTTGTCCAAGGCCACATAGCTACCAAATGGTGCATTTGCTACTCGAAGGACAGCCTGTGATCAGTGATGCAGTGGAACGTTAGGACCTGGCTCTTGTCATCCAGAACTATGTTTTCTTTTCTTTTTGAGACAGTATCTCGCTCTGTCGCCCAGGTTGGAGCGCAGTGGCGTGATCTTGGCTCACTGCAACCTCCGCCTCCTGGGTTCAAGTGATTCTCCTGCTTCAGCCTCCCCAGTAGCTGGGATTACAGGTGCCCACAACCACAACTGGCTAATTTTTGTACTTTTAGTAGAGATGAGGTTTCACCATGTTGGCCAGGCTGGTCTCCAACTCCTGACCAGTAATCTGCCCGCTTTGGCCTCCCAAAATGCTGGAATTATAGGTGTCAAAACTATGTTTTCTGATAAGCTACGATGCTTGGATGGGAAGTGGAAGTGGGGTTCCCTGGGATGGGGGAGGGGCAGCAAAGTCCCAGCAGGCAGCCAGGCCATCACAGGTACCTCCTGAATTGACTTTGTCCTACCGAGTAAAGGGCTCAGGCCACCCACAGCAGCCAGACTTATCCCCACATGGTCCCACTTCCCTGATTCCATCTGAATCCCTCTTGAGCTGCAGTGGGCTGAAGGGCTATCCCAGCTGGTCCTTTCTCCCCAGGACAACAGAGTTGAAAGTGCCTTGGAGAGTGTTGGGCACATGTCAGGGTTCATACTCAAGGGTTTCTTCCACGGTATCCAGTGCTGTTCTCGCTTGTTCTTTTCTTTTTTTTTTTTTAAACGGAGTTTCACTCTTGTTGCCCAGAGCTGGAGTGCAGTGGCATAATCTCGGCTCACTGCAACCTCCGCCTCCCAGATTCAAGCAATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTATAGGTGCCAGCCACCAAGCCCGGCTAATTTTTGTATTTTTAGTAGAGACAGTTTCACCATGTTGGCCAGGCTGGTCTCGAACTCCTGACCTCAGGTGATCCACCCTCCTCAGCCTCCCAAAGTGCTGGGATTACATGTGTGAGCCACTGTGCCTGGCTGCTTGTTCTTTTAAGAACCAAATATCCTACTAGACTGCAATCGAGTTTAACTACAGTCTATAGATAGTGTGAGGAAGGGTTGGGAAGGTGATCAAATGAAGGCTGGAGGCTTGCTTAGGTCAGAAACATTTCTGGAGGATGACTTTGAGCCCTACATGGTCTGTACCCCAGCAGCTGAAGGTTGTTGAGGGGTGGGGAGGGCTGAAAACAGAACGATAAAGCATAGACCTTGTCTCCAAGGAATGCACAATTTAT
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Task1_train_15948
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A genetic alteration is present in BEST1 (bestrophin 1) on Chromosome 11. Is this variant benign or disease-causing, and if the latter, which condition is involved?
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Pathogenic; Retinal dystrophy
|
TGGTGAGGCTGCCCTTTTGGGAAACTGAGGCTAGAAGGACCAAGGAAGCAGCTGGGGTGGGAAGGGCTCACCTAGAGGCTAAGTGGCTCCCCTGGGAGTTGGGTCCACACTTTGAAGTTGGGTCTGGACTTTGAAGTGCCAAGTTCTAAGAGTCCAGGCTCCTGCCTGGCCCAGTCCAGTAGAGGCAATGTGATTATCCCCATATTAAAGAGAGGTTGGCCGGGTGCAGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAAGCTGAGGCAGGTGGATCACCTGAGGTCAGGAGTTCGAGACCAGCCTGGCCAACATGGTGAAACCCCATCTCTACTGAAAATACAGAATTAGCTGTGTGGTGGTGCACGCCTGTAATCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATCGCTTGAACCCGGGAGGTGGAGGTTGCAGTGAGCTGAGATCATGCCACTGCACTCCAGCCTGGGCGACACAGCAAGACTCTGTCTCAAACAAACAAACAAACAAACAAACAAAGGGGTTAACAGAGCCCCTAAGTCACATAAGTGTGCAAGTCAGAACAAGGCCTTGGTCTCCTGTCTCAGACTCCCAGCCCCTGGAGCATCCTGATTTCAGGGTTCCCACCTAGCCCTTTGCTACCACATCCTCCTCCTCCTCCCAGGTGGTGACTGTGGCGGTGTACAGCTTCTTCCTGACTTGTCTAGTTGGGCGGCAGTTTCTGAACCCAGCCAAGGCCTACCCTGGCCATGAGCTGGACCTCGTTGTGCCCGTCTTCACGTTCCTGCAGTTCTTCTTCTATGTTGGCTGGCTGAAGGTGGGCCTCTCCAGGGCCCTGCTGGGCTGGAGGCATGGCCAGAGGGGTCATGGCCAGCAGCTGCCTGAGACGAGGATGCAGTGTCAGGAAAGGAAGGTCTCACGGGTAGAAAGCAGCCAGGCGTGGTGGCGCACACCTGTAATCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATCGCTTGAACCCGGGAGGCGGAGGTTGTGGTGAGTTGAGATCGTGCCACTGCACTCCAGCCTGGGCAAAAGAATGAAACTCTATCTCAAAAACAACAACAACAACAAAACAAAGCCCTAAGGTTCAGAAGCCCCTGCCCTTTAGAAGGCAGATCGGCACCACCTCTCCTTATTCAAGATGCCTGTTGGGCTGTCTTGTTCCTCACCTCAAGTGGCTTGTCCAGGTATTCCCTCCCACCACAGCCAATACTCCGAACAGATGTTCTGAATCACACAGTTTTCTCTCCACCTCTTTATCTTTCCTTCCTTCTGTTGCCCACCCACTCTCTCTCCCTTCCTACCTTCCTTTATTTTTTGGTAATGGGGGTGTAAGTCTCTGTCTCTGCCCTTCCTGTCACTGTGACACACACACACACACACACACACACACACACATACACACACACACACACGCATTCCTATTCCTCTAAATTCCCCCTGCCCCCCCAGTTATCTTTGGTTTCTGCAGATCAAAACAAATCACACTTTTATGCTTGAAATTCTCCGGGGTGCCCCAGTGGCCTGCAAGATGTCCCCTGGACCCCTAAGGCAGACGCGTGTCACCTCTTCGGGGCTTTGTTAGGGCATTTTAGAGGTTGCTATCCAGGAATCTGCCCACCTAGACTGCCCTTTAGTTCAGCCCAGCTTCAGTATATATCTCTGTTGCATGAATGAATAAAATTATGCAACTCCAGGTAAGATACATGAGGTGAGATAAAGGCAGTGACTCAGCCGAGTGATACACTCAGGGACAGCTGTGGGTGTTCAGGGAAGGACTGGCTCAGAAGAGTTAGAGGGGCTGTGTCCAGAAGTGTGTGGGTGCCCACAAGTGTGGGGGGCTGGAGCCCTAAACTCTGCCTTTGAAGACAGTGGTCAGGCAGGAAGGGCGTCATGGGGTGTGGAAATAGCAGCAGCTGAGGTTTAAAGGGGGAAGCTGGCTTTGAGGAGTTCTGCCTGAGGGTTTACAGAGCCTCACCTGTCCCCAAGGTGGCAGAGCAGCTCATCAACCCCTTTGGAGAGGATGATGATGATTTTGAGACCAACTGGATTGTCGACAGGAATTTGCAGGTATGGGGAGAGGGAGAGAAACCATACCATGGACCTTCCCCAAAGTGGACCCAAAGAGAGGACCCCACTGTTCTGTAGGGAGGCCTCACAGTGAATGATCAACCCTTCCCCTCCTCCCTCCTGCAGCCAGTCATTCACTCACAGGATTCTCACCTCAATCTTTGAGGCTGCAGGCAGGCACCCATCTCCCCATTTCACAGGCAGGGAAACTGAGGTCCAGAGAGAGGGAGAGATTCCTCCAAGTCATCAGGCACATACAAGGTCCTGCCTGGGATGATCTTTCTGTGGGACTTCTTCTGTCCCTGGTGACCAGGTGTCCCTGTTGGCTGTGGATGAGATGCACCAGGACCTGCCTCGGATGGAGCCGGACATGTACTGGAATAAGCCCGAGCCACAGCCCCCCTACACAGCTGCTTCCGCCCAGTTCCGTCGAGCCTCCTTTATGGGCTCCACCTTCAACATCAGGTGTGGCCAGAGCCAGGGGGCTGGGTGGGAAGCCCCTCCTAGTGCAGGGGTCTGCCTAGGAACTTAGAATAGCACTAGTTAATGCATACAGGTTGCTTCAGTAAGTGTCAGGCACTGTACTATGCTCTTTATAAACATTAACTATTTTTTTCCTCCCAATAATTCTGGTTTGTTATCCCAAGTTTTCAGATAATTAAAGTACAGGTTCAGAGAGAGTAAGTTGTCCAAGGCCACATAGCTACCAAATGGTGCATTTGCTACTCGAAGGACAGCCTGTGATCAGTGATGCAGTGGAACGTTAGGACCTGGCTCTTGTCATCCAGAACTATGTTTTCTTTTCTTTTTGAGACAGTATCTCGCTCTGTCGCCCAGGTTGGAGCGCAGTGGCGTGATCTTGGCTCACTGCAACCTCCGCCTCCTGGGTTCAAGTGATTCTCCTGCTTCAGCCTCCCCAGTAGCTGGGATTACAGGTGCCCACAACCACAACTGGCTAATTTTTGTACTTTTAGTAGAGATGAGGTTTCACCATGTTGGCCAGGCTGGTCTCCAACTCCTGACCAGTAATCTGCCCGCTTTGGCCTCCCAAAATGCTGGAATTATAGGTGTCAAAACTATGTTTTCTGATAAGCTACGATGCTTGGATGGGAAGTGGAAGTGGGGTTCCCTGGGATGGGGGAGGGGCAGCAAAGTCCCAGCAGGCAGCCAGGCCATCACAGGTACCTCCTGAATTGACTTTGTCCTACCGAGTAAAGGGCTCAGGCCACCCACAGCAGCCAGACTTATCCCCACATGGTCCCACTTCCCTGATTCCATCTGAATCCCTCTTGAGCTGCAGTGGGCTGAAGGGCTATCCCAGCTGGTCCTTTCTCCCCAGGACAACAGAGTTGAAAGTGCCTTGGAGAGTGTTGGGCACATGTCAGGGTTCATACTCAAGGGTTTCTTCCACGGTATCCAGTGCTGTTCTCGCTTGTTCTTTTCTTTTTTTTTTTTTAAACGGAGTTTCACTCTTGTTGCCCAGAGCTGGAGTGCAGTGGCATAATCTCGGCTCACTGCAACCTCCGCCTCCCAGATTCAAGCAATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTATAGGTGCCAGCCACCAAGCCCGGCTAATTTTTGTATTTTTAGTAGAGACAGTTTCACCATGTTGGCCAGGCTGGTCTCGAACTCCTGACCTCAGGTGATCCACCCTCCTCAGCCTCCCAAAGTGCTGGGATTACATGTGTGAGCCACTGTGCCTGGCTGCTTGTTCTTTTAAGAACCAAATATCCTACTAGACTGCAATCGAGTTTAACTACAGTCTATAGATAGTGTGAGGAAGGGTTGGGAAGGTGATCAAATGAAGGCTGGAGGCTTGCTTAGGTCAGAAACATTTCTGGAGGATGACTTTGAGCCCTACATGGTCTGTACCCCAGCAGCTGAAGGTTGTTGAGGGGTGGGGAGGGCTGAAAACAGAACGATAAAGCATAGACCTTGTCTCCAAGGAATGCACAATTTATGGA
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TGGTGAGGCTGCCCTTTTGGGAAACTGAGGCTAGAAGGACCAAGGAAGCAGCTGGGGTGGGAAGGGCTCACCTAGAGGCTAAGTGGCTCCCCTGGGAGTTGGGTCCACACTTTGAAGTTGGGTCTGGACTTTGAAGTGCCAAGTTCTAAGAGTCCAGGCTCCTGCCTGGCCCAGTCCAGTAGAGGCAATGTGATTATCCCCATATTAAAGAGAGGTTGGCCGGGTGCAGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAAGCTGAGGCAGGTGGATCACCTGAGGTCAGGAGTTCGAGACCAGCCTGGCCAACATGGTGAAACCCCATCTCTACTGAAAATACAGAATTAGCTGTGTGGTGGTGCACGCCTGTAATCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATCGCTTGAACCCGGGAGGTGGAGGTTGCAGTGAGCTGAGATCATGCCACTGCACTCCAGCCTGGGCGACACAGCAAGACTCTGTCTCAAACAAACAAACAAACAAACAAACAAAGGGGTTAACAGAGCCCCTAAGTCACATAAGTGTGCAAGTCAGAACAAGGCCTTGGTCTCCTGTCTCAGACTCCCAGCCCCTGGAGCATCCTGATTTCAGGGTTCCCACCTAGCCCTTTGCTACCACATCCTCCTCCTCCTCCCAGGTGGTGACTGTGGCGGTGTACAGCTTCTTCCTGACTTGTCTAGTTGGGCGGCAGTTTCTGAACCCAGCCAAGGCCTACCCTGGCCATGAGCTGGACCTCGTTGTGCCCGTCTTCACGTTCCTGCAGTTCTTCTTCTATGTTGGCTGGCTGAAGGTGGGCCTCTCCAGGGCCCTGCTGGGCTGGAGGCATGGCCAGAGGGGTCATGGCCAGCAGCTGCCTGAGACGAGGATGCAGTGTCAGGAAAGGAAGGTCTCACGGGTAGAAAGCAGCCAGGCGTGGTGGCGCACACCTGTAATCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATCGCTTGAACCCGGGAGGCGGAGGTTGTGGTGAGTTGAGATCGTGCCACTGCACTCCAGCCTGGGCAAAAGAATGAAACTCTATCTCAAAAACAACAACAACAACAAAACAAAGCCCTAAGGTTCAGAAGCCCCTGCCCTTTAGAAGGCAGATCGGCACCACCTCTCCTTATTCAAGATGCCTGTTGGGCTGTCTTGTTCCTCACCTCAAGTGGCTTGTCCAGGTATTCCCTCCCACCACAGCCAATACTCCGAACAGATGTTCTGAATCACACAGTTTTCTCTCCACCTCTTTATCTTTCCTTCCTTCTGTTGCCCACCCACTCTCTCTCCCTTCCTACCTTCCTTTATTTTTTGGTAATGGGGGTGTAAGTCTCTGTCTCTGCCCTTCCTGTCACTGTGACACACACACACACACACACACACACACACACATACACACACACACACACGCATTCCTATTCCTCTAAATTCCCCCTGCCCCCCCAGTTATCTTTGGTTTCTGCAGATCAAAACAAATCACACTTTTATGCTTGAAATTCTCCGGGGTGCCCCAGTGGCCTGCAAGATGTCCCCTGGACCCCTAAGGCAGACGCGTGTCACCTCTTCGGGGCTTTGTTAGGGCATTTTAGAGGTTGCTATCCAGGAATCTGCCCACCTAGACTGCCCTTTAGTTCAGCCCAGCTTCAGTATATATCTCTGTTGCATGAATGAATAAAATTATGCAACTCCAGGTAAGATACATGAGGTGAGATAAAGGCAGTGACTCAGCCGAGTGATACACTCAGGGACAGCTGTGGGTGTTCAGGGAAGGACTGGCTCAGAAGAGTTAGAGGGGCTGTGTCCAGAAGTGTGTGGGTGCCCACAAGTGTGGGGGGCTGGAGCCCTAAACTCTGCCTTTGAAGACAGTGGTCAGGCAGGAAGGGCGTCATGGGGTGTGGAAATAGCAGCAGCTGAGGTTTAAAGGGGGAAGCTGGCTTTGAGGAGTTCTGCCTGAGGGTTTACAGAGCCTCACCTGTCCCCAAGGTGGCAGAGCAGCTCATCAACCCCTTTGAAGAGGATGATGATGATTTTGAGACCAACTGGATTGTCGACAGGAATTTGCAGGTATGGGGAGAGGGAGAGAAACCATACCATGGACCTTCCCCAAAGTGGACCCAAAGAGAGGACCCCACTGTTCTGTAGGGAGGCCTCACAGTGAATGATCAACCCTTCCCCTCCTCCCTCCTGCAGCCAGTCATTCACTCACAGGATTCTCACCTCAATCTTTGAGGCTGCAGGCAGGCACCCATCTCCCCATTTCACAGGCAGGGAAACTGAGGTCCAGAGAGAGGGAGAGATTCCTCCAAGTCATCAGGCACATACAAGGTCCTGCCTGGGATGATCTTTCTGTGGGACTTCTTCTGTCCCTGGTGACCAGGTGTCCCTGTTGGCTGTGGATGAGATGCACCAGGACCTGCCTCGGATGGAGCCGGACATGTACTGGAATAAGCCCGAGCCACAGCCCCCCTACACAGCTGCTTCCGCCCAGTTCCGTCGAGCCTCCTTTATGGGCTCCACCTTCAACATCAGGTGTGGCCAGAGCCAGGGGGCTGGGTGGGAAGCCCCTCCTAGTGCAGGGGTCTGCCTAGGAACTTAGAATAGCACTAGTTAATGCATACAGGTTGCTTCAGTAAGTGTCAGGCACTGTACTATGCTCTTTATAAACATTAACTATTTTTTTCCTCCCAATAATTCTGGTTTGTTATCCCAAGTTTTCAGATAATTAAAGTACAGGTTCAGAGAGAGTAAGTTGTCCAAGGCCACATAGCTACCAAATGGTGCATTTGCTACTCGAAGGACAGCCTGTGATCAGTGATGCAGTGGAACGTTAGGACCTGGCTCTTGTCATCCAGAACTATGTTTTCTTTTCTTTTTGAGACAGTATCTCGCTCTGTCGCCCAGGTTGGAGCGCAGTGGCGTGATCTTGGCTCACTGCAACCTCCGCCTCCTGGGTTCAAGTGATTCTCCTGCTTCAGCCTCCCCAGTAGCTGGGATTACAGGTGCCCACAACCACAACTGGCTAATTTTTGTACTTTTAGTAGAGATGAGGTTTCACCATGTTGGCCAGGCTGGTCTCCAACTCCTGACCAGTAATCTGCCCGCTTTGGCCTCCCAAAATGCTGGAATTATAGGTGTCAAAACTATGTTTTCTGATAAGCTACGATGCTTGGATGGGAAGTGGAAGTGGGGTTCCCTGGGATGGGGGAGGGGCAGCAAAGTCCCAGCAGGCAGCCAGGCCATCACAGGTACCTCCTGAATTGACTTTGTCCTACCGAGTAAAGGGCTCAGGCCACCCACAGCAGCCAGACTTATCCCCACATGGTCCCACTTCCCTGATTCCATCTGAATCCCTCTTGAGCTGCAGTGGGCTGAAGGGCTATCCCAGCTGGTCCTTTCTCCCCAGGACAACAGAGTTGAAAGTGCCTTGGAGAGTGTTGGGCACATGTCAGGGTTCATACTCAAGGGTTTCTTCCACGGTATCCAGTGCTGTTCTCGCTTGTTCTTTTCTTTTTTTTTTTTTAAACGGAGTTTCACTCTTGTTGCCCAGAGCTGGAGTGCAGTGGCATAATCTCGGCTCACTGCAACCTCCGCCTCCCAGATTCAAGCAATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTATAGGTGCCAGCCACCAAGCCCGGCTAATTTTTGTATTTTTAGTAGAGACAGTTTCACCATGTTGGCCAGGCTGGTCTCGAACTCCTGACCTCAGGTGATCCACCCTCCTCAGCCTCCCAAAGTGCTGGGATTACATGTGTGAGCCACTGTGCCTGGCTGCTTGTTCTTTTAAGAACCAAATATCCTACTAGACTGCAATCGAGTTTAACTACAGTCTATAGATAGTGTGAGGAAGGGTTGGGAAGGTGATCAAATGAAGGCTGGAGGCTTGCTTAGGTCAGAAACATTTCTGGAGGATGACTTTGAGCCCTACATGGTCTGTACCCCAGCAGCTGAAGGTTGTTGAGGGGTGGGGAGGGCTGAAAACAGAACGATAAAGCATAGACCTTGTCTCCAAGGAATGCACAATTTATGGA
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Task1_train_15949
|
A mutation on Chromosome 11 affecting BEST1 (bestrophin 1) has been found. Is it harmful or harmless? What disease, if any, does it cause?
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Pathogenic; Retinal dystrophy
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GTGAGGCTGCCCTTTTGGGAAACTGAGGCTAGAAGGACCAAGGAAGCAGCTGGGGTGGGAAGGGCTCACCTAGAGGCTAAGTGGCTCCCCTGGGAGTTGGGTCCACACTTTGAAGTTGGGTCTGGACTTTGAAGTGCCAAGTTCTAAGAGTCCAGGCTCCTGCCTGGCCCAGTCCAGTAGAGGCAATGTGATTATCCCCATATTAAAGAGAGGTTGGCCGGGTGCAGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAAGCTGAGGCAGGTGGATCACCTGAGGTCAGGAGTTCGAGACCAGCCTGGCCAACATGGTGAAACCCCATCTCTACTGAAAATACAGAATTAGCTGTGTGGTGGTGCACGCCTGTAATCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATCGCTTGAACCCGGGAGGTGGAGGTTGCAGTGAGCTGAGATCATGCCACTGCACTCCAGCCTGGGCGACACAGCAAGACTCTGTCTCAAACAAACAAACAAACAAACAAACAAAGGGGTTAACAGAGCCCCTAAGTCACATAAGTGTGCAAGTCAGAACAAGGCCTTGGTCTCCTGTCTCAGACTCCCAGCCCCTGGAGCATCCTGATTTCAGGGTTCCCACCTAGCCCTTTGCTACCACATCCTCCTCCTCCTCCCAGGTGGTGACTGTGGCGGTGTACAGCTTCTTCCTGACTTGTCTAGTTGGGCGGCAGTTTCTGAACCCAGCCAAGGCCTACCCTGGCCATGAGCTGGACCTCGTTGTGCCCGTCTTCACGTTCCTGCAGTTCTTCTTCTATGTTGGCTGGCTGAAGGTGGGCCTCTCCAGGGCCCTGCTGGGCTGGAGGCATGGCCAGAGGGGTCATGGCCAGCAGCTGCCTGAGACGAGGATGCAGTGTCAGGAAAGGAAGGTCTCACGGGTAGAAAGCAGCCAGGCGTGGTGGCGCACACCTGTAATCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATCGCTTGAACCCGGGAGGCGGAGGTTGTGGTGAGTTGAGATCGTGCCACTGCACTCCAGCCTGGGCAAAAGAATGAAACTCTATCTCAAAAACAACAACAACAACAAAACAAAGCCCTAAGGTTCAGAAGCCCCTGCCCTTTAGAAGGCAGATCGGCACCACCTCTCCTTATTCAAGATGCCTGTTGGGCTGTCTTGTTCCTCACCTCAAGTGGCTTGTCCAGGTATTCCCTCCCACCACAGCCAATACTCCGAACAGATGTTCTGAATCACACAGTTTTCTCTCCACCTCTTTATCTTTCCTTCCTTCTGTTGCCCACCCACTCTCTCTCCCTTCCTACCTTCCTTTATTTTTTGGTAATGGGGGTGTAAGTCTCTGTCTCTGCCCTTCCTGTCACTGTGACACACACACACACACACACACACACACACACATACACACACACACACACGCATTCCTATTCCTCTAAATTCCCCCTGCCCCCCCAGTTATCTTTGGTTTCTGCAGATCAAAACAAATCACACTTTTATGCTTGAAATTCTCCGGGGTGCCCCAGTGGCCTGCAAGATGTCCCCTGGACCCCTAAGGCAGACGCGTGTCACCTCTTCGGGGCTTTGTTAGGGCATTTTAGAGGTTGCTATCCAGGAATCTGCCCACCTAGACTGCCCTTTAGTTCAGCCCAGCTTCAGTATATATCTCTGTTGCATGAATGAATAAAATTATGCAACTCCAGGTAAGATACATGAGGTGAGATAAAGGCAGTGACTCAGCCGAGTGATACACTCAGGGACAGCTGTGGGTGTTCAGGGAAGGACTGGCTCAGAAGAGTTAGAGGGGCTGTGTCCAGAAGTGTGTGGGTGCCCACAAGTGTGGGGGGCTGGAGCCCTAAACTCTGCCTTTGAAGACAGTGGTCAGGCAGGAAGGGCGTCATGGGGTGTGGAAATAGCAGCAGCTGAGGTTTAAAGGGGGAAGCTGGCTTTGAGGAGTTCTGCCTGAGGGTTTACAGAGCCTCACCTGTCCCCAAGGTGGCAGAGCAGCTCATCAACCCCTTTGGAGAGGATGATGATGATTTTGAGACCAACTGGATTGTCGACAGGAATTTGCAGGTATGGGGAGAGGGAGAGAAACCATACCATGGACCTTCCCCAAAGTGGACCCAAAGAGAGGACCCCACTGTTCTGTAGGGAGGCCTCACAGTGAATGATCAACCCTTCCCCTCCTCCCTCCTGCAGCCAGTCATTCACTCACAGGATTCTCACCTCAATCTTTGAGGCTGCAGGCAGGCACCCATCTCCCCATTTCACAGGCAGGGAAACTGAGGTCCAGAGAGAGGGAGAGATTCCTCCAAGTCATCAGGCACATACAAGGTCCTGCCTGGGATGATCTTTCTGTGGGACTTCTTCTGTCCCTGGTGACCAGGTGTCCCTGTTGGCTGTGGATGAGATGCACCAGGACCTGCCTCGGATGGAGCCGGACATGTACTGGAATAAGCCCGAGCCACAGCCCCCCTACACAGCTGCTTCCGCCCAGTTCCGTCGAGCCTCCTTTATGGGCTCCACCTTCAACATCAGGTGTGGCCAGAGCCAGGGGGCTGGGTGGGAAGCCCCTCCTAGTGCAGGGGTCTGCCTAGGAACTTAGAATAGCACTAGTTAATGCATACAGGTTGCTTCAGTAAGTGTCAGGCACTGTACTATGCTCTTTATAAACATTAACTATTTTTTTCCTCCCAATAATTCTGGTTTGTTATCCCAAGTTTTCAGATAATTAAAGTACAGGTTCAGAGAGAGTAAGTTGTCCAAGGCCACATAGCTACCAAATGGTGCATTTGCTACTCGAAGGACAGCCTGTGATCAGTGATGCAGTGGAACGTTAGGACCTGGCTCTTGTCATCCAGAACTATGTTTTCTTTTCTTTTTGAGACAGTATCTCGCTCTGTCGCCCAGGTTGGAGCGCAGTGGCGTGATCTTGGCTCACTGCAACCTCCGCCTCCTGGGTTCAAGTGATTCTCCTGCTTCAGCCTCCCCAGTAGCTGGGATTACAGGTGCCCACAACCACAACTGGCTAATTTTTGTACTTTTAGTAGAGATGAGGTTTCACCATGTTGGCCAGGCTGGTCTCCAACTCCTGACCAGTAATCTGCCCGCTTTGGCCTCCCAAAATGCTGGAATTATAGGTGTCAAAACTATGTTTTCTGATAAGCTACGATGCTTGGATGGGAAGTGGAAGTGGGGTTCCCTGGGATGGGGGAGGGGCAGCAAAGTCCCAGCAGGCAGCCAGGCCATCACAGGTACCTCCTGAATTGACTTTGTCCTACCGAGTAAAGGGCTCAGGCCACCCACAGCAGCCAGACTTATCCCCACATGGTCCCACTTCCCTGATTCCATCTGAATCCCTCTTGAGCTGCAGTGGGCTGAAGGGCTATCCCAGCTGGTCCTTTCTCCCCAGGACAACAGAGTTGAAAGTGCCTTGGAGAGTGTTGGGCACATGTCAGGGTTCATACTCAAGGGTTTCTTCCACGGTATCCAGTGCTGTTCTCGCTTGTTCTTTTCTTTTTTTTTTTTTAAACGGAGTTTCACTCTTGTTGCCCAGAGCTGGAGTGCAGTGGCATAATCTCGGCTCACTGCAACCTCCGCCTCCCAGATTCAAGCAATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTATAGGTGCCAGCCACCAAGCCCGGCTAATTTTTGTATTTTTAGTAGAGACAGTTTCACCATGTTGGCCAGGCTGGTCTCGAACTCCTGACCTCAGGTGATCCACCCTCCTCAGCCTCCCAAAGTGCTGGGATTACATGTGTGAGCCACTGTGCCTGGCTGCTTGTTCTTTTAAGAACCAAATATCCTACTAGACTGCAATCGAGTTTAACTACAGTCTATAGATAGTGTGAGGAAGGGTTGGGAAGGTGATCAAATGAAGGCTGGAGGCTTGCTTAGGTCAGAAACATTTCTGGAGGATGACTTTGAGCCCTACATGGTCTGTACCCCAGCAGCTGAAGGTTGTTGAGGGGTGGGGAGGGCTGAAAACAGAACGATAAAGCATAGACCTTGTCTCCAAGGAATGCACAATTTATGGAGG
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GTGAGGCTGCCCTTTTGGGAAACTGAGGCTAGAAGGACCAAGGAAGCAGCTGGGGTGGGAAGGGCTCACCTAGAGGCTAAGTGGCTCCCCTGGGAGTTGGGTCCACACTTTGAAGTTGGGTCTGGACTTTGAAGTGCCAAGTTCTAAGAGTCCAGGCTCCTGCCTGGCCCAGTCCAGTAGAGGCAATGTGATTATCCCCATATTAAAGAGAGGTTGGCCGGGTGCAGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAAGCTGAGGCAGGTGGATCACCTGAGGTCAGGAGTTCGAGACCAGCCTGGCCAACATGGTGAAACCCCATCTCTACTGAAAATACAGAATTAGCTGTGTGGTGGTGCACGCCTGTAATCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATCGCTTGAACCCGGGAGGTGGAGGTTGCAGTGAGCTGAGATCATGCCACTGCACTCCAGCCTGGGCGACACAGCAAGACTCTGTCTCAAACAAACAAACAAACAAACAAACAAAGGGGTTAACAGAGCCCCTAAGTCACATAAGTGTGCAAGTCAGAACAAGGCCTTGGTCTCCTGTCTCAGACTCCCAGCCCCTGGAGCATCCTGATTTCAGGGTTCCCACCTAGCCCTTTGCTACCACATCCTCCTCCTCCTCCCAGGTGGTGACTGTGGCGGTGTACAGCTTCTTCCTGACTTGTCTAGTTGGGCGGCAGTTTCTGAACCCAGCCAAGGCCTACCCTGGCCATGAGCTGGACCTCGTTGTGCCCGTCTTCACGTTCCTGCAGTTCTTCTTCTATGTTGGCTGGCTGAAGGTGGGCCTCTCCAGGGCCCTGCTGGGCTGGAGGCATGGCCAGAGGGGTCATGGCCAGCAGCTGCCTGAGACGAGGATGCAGTGTCAGGAAAGGAAGGTCTCACGGGTAGAAAGCAGCCAGGCGTGGTGGCGCACACCTGTAATCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATCGCTTGAACCCGGGAGGCGGAGGTTGTGGTGAGTTGAGATCGTGCCACTGCACTCCAGCCTGGGCAAAAGAATGAAACTCTATCTCAAAAACAACAACAACAACAAAACAAAGCCCTAAGGTTCAGAAGCCCCTGCCCTTTAGAAGGCAGATCGGCACCACCTCTCCTTATTCAAGATGCCTGTTGGGCTGTCTTGTTCCTCACCTCAAGTGGCTTGTCCAGGTATTCCCTCCCACCACAGCCAATACTCCGAACAGATGTTCTGAATCACACAGTTTTCTCTCCACCTCTTTATCTTTCCTTCCTTCTGTTGCCCACCCACTCTCTCTCCCTTCCTACCTTCCTTTATTTTTTGGTAATGGGGGTGTAAGTCTCTGTCTCTGCCCTTCCTGTCACTGTGACACACACACACACACACACACACACACACACATACACACACACACACACGCATTCCTATTCCTCTAAATTCCCCCTGCCCCCCCAGTTATCTTTGGTTTCTGCAGATCAAAACAAATCACACTTTTATGCTTGAAATTCTCCGGGGTGCCCCAGTGGCCTGCAAGATGTCCCCTGGACCCCTAAGGCAGACGCGTGTCACCTCTTCGGGGCTTTGTTAGGGCATTTTAGAGGTTGCTATCCAGGAATCTGCCCACCTAGACTGCCCTTTAGTTCAGCCCAGCTTCAGTATATATCTCTGTTGCATGAATGAATAAAATTATGCAACTCCAGGTAAGATACATGAGGTGAGATAAAGGCAGTGACTCAGCCGAGTGATACACTCAGGGACAGCTGTGGGTGTTCAGGGAAGGACTGGCTCAGAAGAGTTAGAGGGGCTGTGTCCAGAAGTGTGTGGGTGCCCACAAGTGTGGGGGGCTGGAGCCCTAAACTCTGCCTTTGAAGACAGTGGTCAGGCAGGAAGGGCGTCATGGGGTGTGGAAATAGCAGCAGCTGAGGTTTAAAGGGGGAAGCTGGCTTTGAGGAGTTCTGCCTGAGGGTTTACAGAGCCTCACCTGTCCCCAAGGTGGCAGAGCAGCTCATCAACCCCTTTGGAAAGGATGATGATGATTTTGAGACCAACTGGATTGTCGACAGGAATTTGCAGGTATGGGGAGAGGGAGAGAAACCATACCATGGACCTTCCCCAAAGTGGACCCAAAGAGAGGACCCCACTGTTCTGTAGGGAGGCCTCACAGTGAATGATCAACCCTTCCCCTCCTCCCTCCTGCAGCCAGTCATTCACTCACAGGATTCTCACCTCAATCTTTGAGGCTGCAGGCAGGCACCCATCTCCCCATTTCACAGGCAGGGAAACTGAGGTCCAGAGAGAGGGAGAGATTCCTCCAAGTCATCAGGCACATACAAGGTCCTGCCTGGGATGATCTTTCTGTGGGACTTCTTCTGTCCCTGGTGACCAGGTGTCCCTGTTGGCTGTGGATGAGATGCACCAGGACCTGCCTCGGATGGAGCCGGACATGTACTGGAATAAGCCCGAGCCACAGCCCCCCTACACAGCTGCTTCCGCCCAGTTCCGTCGAGCCTCCTTTATGGGCTCCACCTTCAACATCAGGTGTGGCCAGAGCCAGGGGGCTGGGTGGGAAGCCCCTCCTAGTGCAGGGGTCTGCCTAGGAACTTAGAATAGCACTAGTTAATGCATACAGGTTGCTTCAGTAAGTGTCAGGCACTGTACTATGCTCTTTATAAACATTAACTATTTTTTTCCTCCCAATAATTCTGGTTTGTTATCCCAAGTTTTCAGATAATTAAAGTACAGGTTCAGAGAGAGTAAGTTGTCCAAGGCCACATAGCTACCAAATGGTGCATTTGCTACTCGAAGGACAGCCTGTGATCAGTGATGCAGTGGAACGTTAGGACCTGGCTCTTGTCATCCAGAACTATGTTTTCTTTTCTTTTTGAGACAGTATCTCGCTCTGTCGCCCAGGTTGGAGCGCAGTGGCGTGATCTTGGCTCACTGCAACCTCCGCCTCCTGGGTTCAAGTGATTCTCCTGCTTCAGCCTCCCCAGTAGCTGGGATTACAGGTGCCCACAACCACAACTGGCTAATTTTTGTACTTTTAGTAGAGATGAGGTTTCACCATGTTGGCCAGGCTGGTCTCCAACTCCTGACCAGTAATCTGCCCGCTTTGGCCTCCCAAAATGCTGGAATTATAGGTGTCAAAACTATGTTTTCTGATAAGCTACGATGCTTGGATGGGAAGTGGAAGTGGGGTTCCCTGGGATGGGGGAGGGGCAGCAAAGTCCCAGCAGGCAGCCAGGCCATCACAGGTACCTCCTGAATTGACTTTGTCCTACCGAGTAAAGGGCTCAGGCCACCCACAGCAGCCAGACTTATCCCCACATGGTCCCACTTCCCTGATTCCATCTGAATCCCTCTTGAGCTGCAGTGGGCTGAAGGGCTATCCCAGCTGGTCCTTTCTCCCCAGGACAACAGAGTTGAAAGTGCCTTGGAGAGTGTTGGGCACATGTCAGGGTTCATACTCAAGGGTTTCTTCCACGGTATCCAGTGCTGTTCTCGCTTGTTCTTTTCTTTTTTTTTTTTTAAACGGAGTTTCACTCTTGTTGCCCAGAGCTGGAGTGCAGTGGCATAATCTCGGCTCACTGCAACCTCCGCCTCCCAGATTCAAGCAATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTATAGGTGCCAGCCACCAAGCCCGGCTAATTTTTGTATTTTTAGTAGAGACAGTTTCACCATGTTGGCCAGGCTGGTCTCGAACTCCTGACCTCAGGTGATCCACCCTCCTCAGCCTCCCAAAGTGCTGGGATTACATGTGTGAGCCACTGTGCCTGGCTGCTTGTTCTTTTAAGAACCAAATATCCTACTAGACTGCAATCGAGTTTAACTACAGTCTATAGATAGTGTGAGGAAGGGTTGGGAAGGTGATCAAATGAAGGCTGGAGGCTTGCTTAGGTCAGAAACATTTCTGGAGGATGACTTTGAGCCCTACATGGTCTGTACCCCAGCAGCTGAAGGTTGTTGAGGGGTGGGGAGGGCTGAAAACAGAACGATAAAGCATAGACCTTGTCTCCAAGGAATGCACAATTTATGGAGG
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Task1_train_15950
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This alteration in BEST1 (bestrophin 1) on Chromosome 11 may affect gene function. Does it lead to a disease or is it benign?
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Pathogenic; Retinal dystrophy
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GAGGCTGCCCTTTTGGGAAACTGAGGCTAGAAGGACCAAGGAAGCAGCTGGGGTGGGAAGGGCTCACCTAGAGGCTAAGTGGCTCCCCTGGGAGTTGGGTCCACACTTTGAAGTTGGGTCTGGACTTTGAAGTGCCAAGTTCTAAGAGTCCAGGCTCCTGCCTGGCCCAGTCCAGTAGAGGCAATGTGATTATCCCCATATTAAAGAGAGGTTGGCCGGGTGCAGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAAGCTGAGGCAGGTGGATCACCTGAGGTCAGGAGTTCGAGACCAGCCTGGCCAACATGGTGAAACCCCATCTCTACTGAAAATACAGAATTAGCTGTGTGGTGGTGCACGCCTGTAATCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATCGCTTGAACCCGGGAGGTGGAGGTTGCAGTGAGCTGAGATCATGCCACTGCACTCCAGCCTGGGCGACACAGCAAGACTCTGTCTCAAACAAACAAACAAACAAACAAACAAAGGGGTTAACAGAGCCCCTAAGTCACATAAGTGTGCAAGTCAGAACAAGGCCTTGGTCTCCTGTCTCAGACTCCCAGCCCCTGGAGCATCCTGATTTCAGGGTTCCCACCTAGCCCTTTGCTACCACATCCTCCTCCTCCTCCCAGGTGGTGACTGTGGCGGTGTACAGCTTCTTCCTGACTTGTCTAGTTGGGCGGCAGTTTCTGAACCCAGCCAAGGCCTACCCTGGCCATGAGCTGGACCTCGTTGTGCCCGTCTTCACGTTCCTGCAGTTCTTCTTCTATGTTGGCTGGCTGAAGGTGGGCCTCTCCAGGGCCCTGCTGGGCTGGAGGCATGGCCAGAGGGGTCATGGCCAGCAGCTGCCTGAGACGAGGATGCAGTGTCAGGAAAGGAAGGTCTCACGGGTAGAAAGCAGCCAGGCGTGGTGGCGCACACCTGTAATCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATCGCTTGAACCCGGGAGGCGGAGGTTGTGGTGAGTTGAGATCGTGCCACTGCACTCCAGCCTGGGCAAAAGAATGAAACTCTATCTCAAAAACAACAACAACAACAAAACAAAGCCCTAAGGTTCAGAAGCCCCTGCCCTTTAGAAGGCAGATCGGCACCACCTCTCCTTATTCAAGATGCCTGTTGGGCTGTCTTGTTCCTCACCTCAAGTGGCTTGTCCAGGTATTCCCTCCCACCACAGCCAATACTCCGAACAGATGTTCTGAATCACACAGTTTTCTCTCCACCTCTTTATCTTTCCTTCCTTCTGTTGCCCACCCACTCTCTCTCCCTTCCTACCTTCCTTTATTTTTTGGTAATGGGGGTGTAAGTCTCTGTCTCTGCCCTTCCTGTCACTGTGACACACACACACACACACACACACACACACACATACACACACACACACACGCATTCCTATTCCTCTAAATTCCCCCTGCCCCCCCAGTTATCTTTGGTTTCTGCAGATCAAAACAAATCACACTTTTATGCTTGAAATTCTCCGGGGTGCCCCAGTGGCCTGCAAGATGTCCCCTGGACCCCTAAGGCAGACGCGTGTCACCTCTTCGGGGCTTTGTTAGGGCATTTTAGAGGTTGCTATCCAGGAATCTGCCCACCTAGACTGCCCTTTAGTTCAGCCCAGCTTCAGTATATATCTCTGTTGCATGAATGAATAAAATTATGCAACTCCAGGTAAGATACATGAGGTGAGATAAAGGCAGTGACTCAGCCGAGTGATACACTCAGGGACAGCTGTGGGTGTTCAGGGAAGGACTGGCTCAGAAGAGTTAGAGGGGCTGTGTCCAGAAGTGTGTGGGTGCCCACAAGTGTGGGGGGCTGGAGCCCTAAACTCTGCCTTTGAAGACAGTGGTCAGGCAGGAAGGGCGTCATGGGGTGTGGAAATAGCAGCAGCTGAGGTTTAAAGGGGGAAGCTGGCTTTGAGGAGTTCTGCCTGAGGGTTTACAGAGCCTCACCTGTCCCCAAGGTGGCAGAGCAGCTCATCAACCCCTTTGGAGAGGATGATGATGATTTTGAGACCAACTGGATTGTCGACAGGAATTTGCAGGTATGGGGAGAGGGAGAGAAACCATACCATGGACCTTCCCCAAAGTGGACCCAAAGAGAGGACCCCACTGTTCTGTAGGGAGGCCTCACAGTGAATGATCAACCCTTCCCCTCCTCCCTCCTGCAGCCAGTCATTCACTCACAGGATTCTCACCTCAATCTTTGAGGCTGCAGGCAGGCACCCATCTCCCCATTTCACAGGCAGGGAAACTGAGGTCCAGAGAGAGGGAGAGATTCCTCCAAGTCATCAGGCACATACAAGGTCCTGCCTGGGATGATCTTTCTGTGGGACTTCTTCTGTCCCTGGTGACCAGGTGTCCCTGTTGGCTGTGGATGAGATGCACCAGGACCTGCCTCGGATGGAGCCGGACATGTACTGGAATAAGCCCGAGCCACAGCCCCCCTACACAGCTGCTTCCGCCCAGTTCCGTCGAGCCTCCTTTATGGGCTCCACCTTCAACATCAGGTGTGGCCAGAGCCAGGGGGCTGGGTGGGAAGCCCCTCCTAGTGCAGGGGTCTGCCTAGGAACTTAGAATAGCACTAGTTAATGCATACAGGTTGCTTCAGTAAGTGTCAGGCACTGTACTATGCTCTTTATAAACATTAACTATTTTTTTCCTCCCAATAATTCTGGTTTGTTATCCCAAGTTTTCAGATAATTAAAGTACAGGTTCAGAGAGAGTAAGTTGTCCAAGGCCACATAGCTACCAAATGGTGCATTTGCTACTCGAAGGACAGCCTGTGATCAGTGATGCAGTGGAACGTTAGGACCTGGCTCTTGTCATCCAGAACTATGTTTTCTTTTCTTTTTGAGACAGTATCTCGCTCTGTCGCCCAGGTTGGAGCGCAGTGGCGTGATCTTGGCTCACTGCAACCTCCGCCTCCTGGGTTCAAGTGATTCTCCTGCTTCAGCCTCCCCAGTAGCTGGGATTACAGGTGCCCACAACCACAACTGGCTAATTTTTGTACTTTTAGTAGAGATGAGGTTTCACCATGTTGGCCAGGCTGGTCTCCAACTCCTGACCAGTAATCTGCCCGCTTTGGCCTCCCAAAATGCTGGAATTATAGGTGTCAAAACTATGTTTTCTGATAAGCTACGATGCTTGGATGGGAAGTGGAAGTGGGGTTCCCTGGGATGGGGGAGGGGCAGCAAAGTCCCAGCAGGCAGCCAGGCCATCACAGGTACCTCCTGAATTGACTTTGTCCTACCGAGTAAAGGGCTCAGGCCACCCACAGCAGCCAGACTTATCCCCACATGGTCCCACTTCCCTGATTCCATCTGAATCCCTCTTGAGCTGCAGTGGGCTGAAGGGCTATCCCAGCTGGTCCTTTCTCCCCAGGACAACAGAGTTGAAAGTGCCTTGGAGAGTGTTGGGCACATGTCAGGGTTCATACTCAAGGGTTTCTTCCACGGTATCCAGTGCTGTTCTCGCTTGTTCTTTTCTTTTTTTTTTTTTAAACGGAGTTTCACTCTTGTTGCCCAGAGCTGGAGTGCAGTGGCATAATCTCGGCTCACTGCAACCTCCGCCTCCCAGATTCAAGCAATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTATAGGTGCCAGCCACCAAGCCCGGCTAATTTTTGTATTTTTAGTAGAGACAGTTTCACCATGTTGGCCAGGCTGGTCTCGAACTCCTGACCTCAGGTGATCCACCCTCCTCAGCCTCCCAAAGTGCTGGGATTACATGTGTGAGCCACTGTGCCTGGCTGCTTGTTCTTTTAAGAACCAAATATCCTACTAGACTGCAATCGAGTTTAACTACAGTCTATAGATAGTGTGAGGAAGGGTTGGGAAGGTGATCAAATGAAGGCTGGAGGCTTGCTTAGGTCAGAAACATTTCTGGAGGATGACTTTGAGCCCTACATGGTCTGTACCCCAGCAGCTGAAGGTTGTTGAGGGGTGGGGAGGGCTGAAAACAGAACGATAAAGCATAGACCTTGTCTCCAAGGAATGCACAATTTATGGAGGGA
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GAGGCTGCCCTTTTGGGAAACTGAGGCTAGAAGGACCAAGGAAGCAGCTGGGGTGGGAAGGGCTCACCTAGAGGCTAAGTGGCTCCCCTGGGAGTTGGGTCCACACTTTGAAGTTGGGTCTGGACTTTGAAGTGCCAAGTTCTAAGAGTCCAGGCTCCTGCCTGGCCCAGTCCAGTAGAGGCAATGTGATTATCCCCATATTAAAGAGAGGTTGGCCGGGTGCAGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAAGCTGAGGCAGGTGGATCACCTGAGGTCAGGAGTTCGAGACCAGCCTGGCCAACATGGTGAAACCCCATCTCTACTGAAAATACAGAATTAGCTGTGTGGTGGTGCACGCCTGTAATCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATCGCTTGAACCCGGGAGGTGGAGGTTGCAGTGAGCTGAGATCATGCCACTGCACTCCAGCCTGGGCGACACAGCAAGACTCTGTCTCAAACAAACAAACAAACAAACAAACAAAGGGGTTAACAGAGCCCCTAAGTCACATAAGTGTGCAAGTCAGAACAAGGCCTTGGTCTCCTGTCTCAGACTCCCAGCCCCTGGAGCATCCTGATTTCAGGGTTCCCACCTAGCCCTTTGCTACCACATCCTCCTCCTCCTCCCAGGTGGTGACTGTGGCGGTGTACAGCTTCTTCCTGACTTGTCTAGTTGGGCGGCAGTTTCTGAACCCAGCCAAGGCCTACCCTGGCCATGAGCTGGACCTCGTTGTGCCCGTCTTCACGTTCCTGCAGTTCTTCTTCTATGTTGGCTGGCTGAAGGTGGGCCTCTCCAGGGCCCTGCTGGGCTGGAGGCATGGCCAGAGGGGTCATGGCCAGCAGCTGCCTGAGACGAGGATGCAGTGTCAGGAAAGGAAGGTCTCACGGGTAGAAAGCAGCCAGGCGTGGTGGCGCACACCTGTAATCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATCGCTTGAACCCGGGAGGCGGAGGTTGTGGTGAGTTGAGATCGTGCCACTGCACTCCAGCCTGGGCAAAAGAATGAAACTCTATCTCAAAAACAACAACAACAACAAAACAAAGCCCTAAGGTTCAGAAGCCCCTGCCCTTTAGAAGGCAGATCGGCACCACCTCTCCTTATTCAAGATGCCTGTTGGGCTGTCTTGTTCCTCACCTCAAGTGGCTTGTCCAGGTATTCCCTCCCACCACAGCCAATACTCCGAACAGATGTTCTGAATCACACAGTTTTCTCTCCACCTCTTTATCTTTCCTTCCTTCTGTTGCCCACCCACTCTCTCTCCCTTCCTACCTTCCTTTATTTTTTGGTAATGGGGGTGTAAGTCTCTGTCTCTGCCCTTCCTGTCACTGTGACACACACACACACACACACACACACACACACATACACACACACACACACGCATTCCTATTCCTCTAAATTCCCCCTGCCCCCCCAGTTATCTTTGGTTTCTGCAGATCAAAACAAATCACACTTTTATGCTTGAAATTCTCCGGGGTGCCCCAGTGGCCTGCAAGATGTCCCCTGGACCCCTAAGGCAGACGCGTGTCACCTCTTCGGGGCTTTGTTAGGGCATTTTAGAGGTTGCTATCCAGGAATCTGCCCACCTAGACTGCCCTTTAGTTCAGCCCAGCTTCAGTATATATCTCTGTTGCATGAATGAATAAAATTATGCAACTCCAGGTAAGATACATGAGGTGAGATAAAGGCAGTGACTCAGCCGAGTGATACACTCAGGGACAGCTGTGGGTGTTCAGGGAAGGACTGGCTCAGAAGAGTTAGAGGGGCTGTGTCCAGAAGTGTGTGGGTGCCCACAAGTGTGGGGGGCTGGAGCCCTAAACTCTGCCTTTGAAGACAGTGGTCAGGCAGGAAGGGCGTCATGGGGTGTGGAAATAGCAGCAGCTGAGGTTTAAAGGGGGAAGCTGGCTTTGAGGAGTTCTGCCTGAGGGTTTACAGAGCCTCACCTGTCCCCAAGGTGGCAGAGCAGCTCATCAACCCCTTTGGAGACGATGATGATGATTTTGAGACCAACTGGATTGTCGACAGGAATTTGCAGGTATGGGGAGAGGGAGAGAAACCATACCATGGACCTTCCCCAAAGTGGACCCAAAGAGAGGACCCCACTGTTCTGTAGGGAGGCCTCACAGTGAATGATCAACCCTTCCCCTCCTCCCTCCTGCAGCCAGTCATTCACTCACAGGATTCTCACCTCAATCTTTGAGGCTGCAGGCAGGCACCCATCTCCCCATTTCACAGGCAGGGAAACTGAGGTCCAGAGAGAGGGAGAGATTCCTCCAAGTCATCAGGCACATACAAGGTCCTGCCTGGGATGATCTTTCTGTGGGACTTCTTCTGTCCCTGGTGACCAGGTGTCCCTGTTGGCTGTGGATGAGATGCACCAGGACCTGCCTCGGATGGAGCCGGACATGTACTGGAATAAGCCCGAGCCACAGCCCCCCTACACAGCTGCTTCCGCCCAGTTCCGTCGAGCCTCCTTTATGGGCTCCACCTTCAACATCAGGTGTGGCCAGAGCCAGGGGGCTGGGTGGGAAGCCCCTCCTAGTGCAGGGGTCTGCCTAGGAACTTAGAATAGCACTAGTTAATGCATACAGGTTGCTTCAGTAAGTGTCAGGCACTGTACTATGCTCTTTATAAACATTAACTATTTTTTTCCTCCCAATAATTCTGGTTTGTTATCCCAAGTTTTCAGATAATTAAAGTACAGGTTCAGAGAGAGTAAGTTGTCCAAGGCCACATAGCTACCAAATGGTGCATTTGCTACTCGAAGGACAGCCTGTGATCAGTGATGCAGTGGAACGTTAGGACCTGGCTCTTGTCATCCAGAACTATGTTTTCTTTTCTTTTTGAGACAGTATCTCGCTCTGTCGCCCAGGTTGGAGCGCAGTGGCGTGATCTTGGCTCACTGCAACCTCCGCCTCCTGGGTTCAAGTGATTCTCCTGCTTCAGCCTCCCCAGTAGCTGGGATTACAGGTGCCCACAACCACAACTGGCTAATTTTTGTACTTTTAGTAGAGATGAGGTTTCACCATGTTGGCCAGGCTGGTCTCCAACTCCTGACCAGTAATCTGCCCGCTTTGGCCTCCCAAAATGCTGGAATTATAGGTGTCAAAACTATGTTTTCTGATAAGCTACGATGCTTGGATGGGAAGTGGAAGTGGGGTTCCCTGGGATGGGGGAGGGGCAGCAAAGTCCCAGCAGGCAGCCAGGCCATCACAGGTACCTCCTGAATTGACTTTGTCCTACCGAGTAAAGGGCTCAGGCCACCCACAGCAGCCAGACTTATCCCCACATGGTCCCACTTCCCTGATTCCATCTGAATCCCTCTTGAGCTGCAGTGGGCTGAAGGGCTATCCCAGCTGGTCCTTTCTCCCCAGGACAACAGAGTTGAAAGTGCCTTGGAGAGTGTTGGGCACATGTCAGGGTTCATACTCAAGGGTTTCTTCCACGGTATCCAGTGCTGTTCTCGCTTGTTCTTTTCTTTTTTTTTTTTTAAACGGAGTTTCACTCTTGTTGCCCAGAGCTGGAGTGCAGTGGCATAATCTCGGCTCACTGCAACCTCCGCCTCCCAGATTCAAGCAATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTATAGGTGCCAGCCACCAAGCCCGGCTAATTTTTGTATTTTTAGTAGAGACAGTTTCACCATGTTGGCCAGGCTGGTCTCGAACTCCTGACCTCAGGTGATCCACCCTCCTCAGCCTCCCAAAGTGCTGGGATTACATGTGTGAGCCACTGTGCCTGGCTGCTTGTTCTTTTAAGAACCAAATATCCTACTAGACTGCAATCGAGTTTAACTACAGTCTATAGATAGTGTGAGGAAGGGTTGGGAAGGTGATCAAATGAAGGCTGGAGGCTTGCTTAGGTCAGAAACATTTCTGGAGGATGACTTTGAGCCCTACATGGTCTGTACCCCAGCAGCTGAAGGTTGTTGAGGGGTGGGGAGGGCTGAAAACAGAACGATAAAGCATAGACCTTGTCTCCAAGGAATGCACAATTTATGGAGGGA
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Task1_train_15951
|
The gene BEST1 (bestrophin 1) on Chromosome 11 carries this variant. Does this mutation lead to a specific disease, or is it non-pathogenic?
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Pathogenic; Retinal dystrophy
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AGGCTGCCCTTTTGGGAAACTGAGGCTAGAAGGACCAAGGAAGCAGCTGGGGTGGGAAGGGCTCACCTAGAGGCTAAGTGGCTCCCCTGGGAGTTGGGTCCACACTTTGAAGTTGGGTCTGGACTTTGAAGTGCCAAGTTCTAAGAGTCCAGGCTCCTGCCTGGCCCAGTCCAGTAGAGGCAATGTGATTATCCCCATATTAAAGAGAGGTTGGCCGGGTGCAGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAAGCTGAGGCAGGTGGATCACCTGAGGTCAGGAGTTCGAGACCAGCCTGGCCAACATGGTGAAACCCCATCTCTACTGAAAATACAGAATTAGCTGTGTGGTGGTGCACGCCTGTAATCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATCGCTTGAACCCGGGAGGTGGAGGTTGCAGTGAGCTGAGATCATGCCACTGCACTCCAGCCTGGGCGACACAGCAAGACTCTGTCTCAAACAAACAAACAAACAAACAAACAAAGGGGTTAACAGAGCCCCTAAGTCACATAAGTGTGCAAGTCAGAACAAGGCCTTGGTCTCCTGTCTCAGACTCCCAGCCCCTGGAGCATCCTGATTTCAGGGTTCCCACCTAGCCCTTTGCTACCACATCCTCCTCCTCCTCCCAGGTGGTGACTGTGGCGGTGTACAGCTTCTTCCTGACTTGTCTAGTTGGGCGGCAGTTTCTGAACCCAGCCAAGGCCTACCCTGGCCATGAGCTGGACCTCGTTGTGCCCGTCTTCACGTTCCTGCAGTTCTTCTTCTATGTTGGCTGGCTGAAGGTGGGCCTCTCCAGGGCCCTGCTGGGCTGGAGGCATGGCCAGAGGGGTCATGGCCAGCAGCTGCCTGAGACGAGGATGCAGTGTCAGGAAAGGAAGGTCTCACGGGTAGAAAGCAGCCAGGCGTGGTGGCGCACACCTGTAATCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATCGCTTGAACCCGGGAGGCGGAGGTTGTGGTGAGTTGAGATCGTGCCACTGCACTCCAGCCTGGGCAAAAGAATGAAACTCTATCTCAAAAACAACAACAACAACAAAACAAAGCCCTAAGGTTCAGAAGCCCCTGCCCTTTAGAAGGCAGATCGGCACCACCTCTCCTTATTCAAGATGCCTGTTGGGCTGTCTTGTTCCTCACCTCAAGTGGCTTGTCCAGGTATTCCCTCCCACCACAGCCAATACTCCGAACAGATGTTCTGAATCACACAGTTTTCTCTCCACCTCTTTATCTTTCCTTCCTTCTGTTGCCCACCCACTCTCTCTCCCTTCCTACCTTCCTTTATTTTTTGGTAATGGGGGTGTAAGTCTCTGTCTCTGCCCTTCCTGTCACTGTGACACACACACACACACACACACACACACACACATACACACACACACACACGCATTCCTATTCCTCTAAATTCCCCCTGCCCCCCCAGTTATCTTTGGTTTCTGCAGATCAAAACAAATCACACTTTTATGCTTGAAATTCTCCGGGGTGCCCCAGTGGCCTGCAAGATGTCCCCTGGACCCCTAAGGCAGACGCGTGTCACCTCTTCGGGGCTTTGTTAGGGCATTTTAGAGGTTGCTATCCAGGAATCTGCCCACCTAGACTGCCCTTTAGTTCAGCCCAGCTTCAGTATATATCTCTGTTGCATGAATGAATAAAATTATGCAACTCCAGGTAAGATACATGAGGTGAGATAAAGGCAGTGACTCAGCCGAGTGATACACTCAGGGACAGCTGTGGGTGTTCAGGGAAGGACTGGCTCAGAAGAGTTAGAGGGGCTGTGTCCAGAAGTGTGTGGGTGCCCACAAGTGTGGGGGGCTGGAGCCCTAAACTCTGCCTTTGAAGACAGTGGTCAGGCAGGAAGGGCGTCATGGGGTGTGGAAATAGCAGCAGCTGAGGTTTAAAGGGGGAAGCTGGCTTTGAGGAGTTCTGCCTGAGGGTTTACAGAGCCTCACCTGTCCCCAAGGTGGCAGAGCAGCTCATCAACCCCTTTGGAGAGGATGATGATGATTTTGAGACCAACTGGATTGTCGACAGGAATTTGCAGGTATGGGGAGAGGGAGAGAAACCATACCATGGACCTTCCCCAAAGTGGACCCAAAGAGAGGACCCCACTGTTCTGTAGGGAGGCCTCACAGTGAATGATCAACCCTTCCCCTCCTCCCTCCTGCAGCCAGTCATTCACTCACAGGATTCTCACCTCAATCTTTGAGGCTGCAGGCAGGCACCCATCTCCCCATTTCACAGGCAGGGAAACTGAGGTCCAGAGAGAGGGAGAGATTCCTCCAAGTCATCAGGCACATACAAGGTCCTGCCTGGGATGATCTTTCTGTGGGACTTCTTCTGTCCCTGGTGACCAGGTGTCCCTGTTGGCTGTGGATGAGATGCACCAGGACCTGCCTCGGATGGAGCCGGACATGTACTGGAATAAGCCCGAGCCACAGCCCCCCTACACAGCTGCTTCCGCCCAGTTCCGTCGAGCCTCCTTTATGGGCTCCACCTTCAACATCAGGTGTGGCCAGAGCCAGGGGGCTGGGTGGGAAGCCCCTCCTAGTGCAGGGGTCTGCCTAGGAACTTAGAATAGCACTAGTTAATGCATACAGGTTGCTTCAGTAAGTGTCAGGCACTGTACTATGCTCTTTATAAACATTAACTATTTTTTTCCTCCCAATAATTCTGGTTTGTTATCCCAAGTTTTCAGATAATTAAAGTACAGGTTCAGAGAGAGTAAGTTGTCCAAGGCCACATAGCTACCAAATGGTGCATTTGCTACTCGAAGGACAGCCTGTGATCAGTGATGCAGTGGAACGTTAGGACCTGGCTCTTGTCATCCAGAACTATGTTTTCTTTTCTTTTTGAGACAGTATCTCGCTCTGTCGCCCAGGTTGGAGCGCAGTGGCGTGATCTTGGCTCACTGCAACCTCCGCCTCCTGGGTTCAAGTGATTCTCCTGCTTCAGCCTCCCCAGTAGCTGGGATTACAGGTGCCCACAACCACAACTGGCTAATTTTTGTACTTTTAGTAGAGATGAGGTTTCACCATGTTGGCCAGGCTGGTCTCCAACTCCTGACCAGTAATCTGCCCGCTTTGGCCTCCCAAAATGCTGGAATTATAGGTGTCAAAACTATGTTTTCTGATAAGCTACGATGCTTGGATGGGAAGTGGAAGTGGGGTTCCCTGGGATGGGGGAGGGGCAGCAAAGTCCCAGCAGGCAGCCAGGCCATCACAGGTACCTCCTGAATTGACTTTGTCCTACCGAGTAAAGGGCTCAGGCCACCCACAGCAGCCAGACTTATCCCCACATGGTCCCACTTCCCTGATTCCATCTGAATCCCTCTTGAGCTGCAGTGGGCTGAAGGGCTATCCCAGCTGGTCCTTTCTCCCCAGGACAACAGAGTTGAAAGTGCCTTGGAGAGTGTTGGGCACATGTCAGGGTTCATACTCAAGGGTTTCTTCCACGGTATCCAGTGCTGTTCTCGCTTGTTCTTTTCTTTTTTTTTTTTTAAACGGAGTTTCACTCTTGTTGCCCAGAGCTGGAGTGCAGTGGCATAATCTCGGCTCACTGCAACCTCCGCCTCCCAGATTCAAGCAATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTATAGGTGCCAGCCACCAAGCCCGGCTAATTTTTGTATTTTTAGTAGAGACAGTTTCACCATGTTGGCCAGGCTGGTCTCGAACTCCTGACCTCAGGTGATCCACCCTCCTCAGCCTCCCAAAGTGCTGGGATTACATGTGTGAGCCACTGTGCCTGGCTGCTTGTTCTTTTAAGAACCAAATATCCTACTAGACTGCAATCGAGTTTAACTACAGTCTATAGATAGTGTGAGGAAGGGTTGGGAAGGTGATCAAATGAAGGCTGGAGGCTTGCTTAGGTCAGAAACATTTCTGGAGGATGACTTTGAGCCCTACATGGTCTGTACCCCAGCAGCTGAAGGTTGTTGAGGGGTGGGGAGGGCTGAAAACAGAACGATAAAGCATAGACCTTGTCTCCAAGGAATGCACAATTTATGGAGGGAG
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AGGCTGCCCTTTTGGGAAACTGAGGCTAGAAGGACCAAGGAAGCAGCTGGGGTGGGAAGGGCTCACCTAGAGGCTAAGTGGCTCCCCTGGGAGTTGGGTCCACACTTTGAAGTTGGGTCTGGACTTTGAAGTGCCAAGTTCTAAGAGTCCAGGCTCCTGCCTGGCCCAGTCCAGTAGAGGCAATGTGATTATCCCCATATTAAAGAGAGGTTGGCCGGGTGCAGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAAGCTGAGGCAGGTGGATCACCTGAGGTCAGGAGTTCGAGACCAGCCTGGCCAACATGGTGAAACCCCATCTCTACTGAAAATACAGAATTAGCTGTGTGGTGGTGCACGCCTGTAATCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATCGCTTGAACCCGGGAGGTGGAGGTTGCAGTGAGCTGAGATCATGCCACTGCACTCCAGCCTGGGCGACACAGCAAGACTCTGTCTCAAACAAACAAACAAACAAACAAACAAAGGGGTTAACAGAGCCCCTAAGTCACATAAGTGTGCAAGTCAGAACAAGGCCTTGGTCTCCTGTCTCAGACTCCCAGCCCCTGGAGCATCCTGATTTCAGGGTTCCCACCTAGCCCTTTGCTACCACATCCTCCTCCTCCTCCCAGGTGGTGACTGTGGCGGTGTACAGCTTCTTCCTGACTTGTCTAGTTGGGCGGCAGTTTCTGAACCCAGCCAAGGCCTACCCTGGCCATGAGCTGGACCTCGTTGTGCCCGTCTTCACGTTCCTGCAGTTCTTCTTCTATGTTGGCTGGCTGAAGGTGGGCCTCTCCAGGGCCCTGCTGGGCTGGAGGCATGGCCAGAGGGGTCATGGCCAGCAGCTGCCTGAGACGAGGATGCAGTGTCAGGAAAGGAAGGTCTCACGGGTAGAAAGCAGCCAGGCGTGGTGGCGCACACCTGTAATCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATCGCTTGAACCCGGGAGGCGGAGGTTGTGGTGAGTTGAGATCGTGCCACTGCACTCCAGCCTGGGCAAAAGAATGAAACTCTATCTCAAAAACAACAACAACAACAAAACAAAGCCCTAAGGTTCAGAAGCCCCTGCCCTTTAGAAGGCAGATCGGCACCACCTCTCCTTATTCAAGATGCCTGTTGGGCTGTCTTGTTCCTCACCTCAAGTGGCTTGTCCAGGTATTCCCTCCCACCACAGCCAATACTCCGAACAGATGTTCTGAATCACACAGTTTTCTCTCCACCTCTTTATCTTTCCTTCCTTCTGTTGCCCACCCACTCTCTCTCCCTTCCTACCTTCCTTTATTTTTTGGTAATGGGGGTGTAAGTCTCTGTCTCTGCCCTTCCTGTCACTGTGACACACACACACACACACACACACACACACACATACACACACACACACACGCATTCCTATTCCTCTAAATTCCCCCTGCCCCCCCAGTTATCTTTGGTTTCTGCAGATCAAAACAAATCACACTTTTATGCTTGAAATTCTCCGGGGTGCCCCAGTGGCCTGCAAGATGTCCCCTGGACCCCTAAGGCAGACGCGTGTCACCTCTTCGGGGCTTTGTTAGGGCATTTTAGAGGTTGCTATCCAGGAATCTGCCCACCTAGACTGCCCTTTAGTTCAGCCCAGCTTCAGTATATATCTCTGTTGCATGAATGAATAAAATTATGCAACTCCAGGTAAGATACATGAGGTGAGATAAAGGCAGTGACTCAGCCGAGTGATACACTCAGGGACAGCTGTGGGTGTTCAGGGAAGGACTGGCTCAGAAGAGTTAGAGGGGCTGTGTCCAGAAGTGTGTGGGTGCCCACAAGTGTGGGGGGCTGGAGCCCTAAACTCTGCCTTTGAAGACAGTGGTCAGGCAGGAAGGGCGTCATGGGGTGTGGAAATAGCAGCAGCTGAGGTTTAAAGGGGGAAGCTGGCTTTGAGGAGTTCTGCCTGAGGGTTTACAGAGCCTCACCTGTCCCCAAGGTGGCAGAGCAGCTCATCAACCCCTTTGGAGAGAATGATGATGATTTTGAGACCAACTGGATTGTCGACAGGAATTTGCAGGTATGGGGAGAGGGAGAGAAACCATACCATGGACCTTCCCCAAAGTGGACCCAAAGAGAGGACCCCACTGTTCTGTAGGGAGGCCTCACAGTGAATGATCAACCCTTCCCCTCCTCCCTCCTGCAGCCAGTCATTCACTCACAGGATTCTCACCTCAATCTTTGAGGCTGCAGGCAGGCACCCATCTCCCCATTTCACAGGCAGGGAAACTGAGGTCCAGAGAGAGGGAGAGATTCCTCCAAGTCATCAGGCACATACAAGGTCCTGCCTGGGATGATCTTTCTGTGGGACTTCTTCTGTCCCTGGTGACCAGGTGTCCCTGTTGGCTGTGGATGAGATGCACCAGGACCTGCCTCGGATGGAGCCGGACATGTACTGGAATAAGCCCGAGCCACAGCCCCCCTACACAGCTGCTTCCGCCCAGTTCCGTCGAGCCTCCTTTATGGGCTCCACCTTCAACATCAGGTGTGGCCAGAGCCAGGGGGCTGGGTGGGAAGCCCCTCCTAGTGCAGGGGTCTGCCTAGGAACTTAGAATAGCACTAGTTAATGCATACAGGTTGCTTCAGTAAGTGTCAGGCACTGTACTATGCTCTTTATAAACATTAACTATTTTTTTCCTCCCAATAATTCTGGTTTGTTATCCCAAGTTTTCAGATAATTAAAGTACAGGTTCAGAGAGAGTAAGTTGTCCAAGGCCACATAGCTACCAAATGGTGCATTTGCTACTCGAAGGACAGCCTGTGATCAGTGATGCAGTGGAACGTTAGGACCTGGCTCTTGTCATCCAGAACTATGTTTTCTTTTCTTTTTGAGACAGTATCTCGCTCTGTCGCCCAGGTTGGAGCGCAGTGGCGTGATCTTGGCTCACTGCAACCTCCGCCTCCTGGGTTCAAGTGATTCTCCTGCTTCAGCCTCCCCAGTAGCTGGGATTACAGGTGCCCACAACCACAACTGGCTAATTTTTGTACTTTTAGTAGAGATGAGGTTTCACCATGTTGGCCAGGCTGGTCTCCAACTCCTGACCAGTAATCTGCCCGCTTTGGCCTCCCAAAATGCTGGAATTATAGGTGTCAAAACTATGTTTTCTGATAAGCTACGATGCTTGGATGGGAAGTGGAAGTGGGGTTCCCTGGGATGGGGGAGGGGCAGCAAAGTCCCAGCAGGCAGCCAGGCCATCACAGGTACCTCCTGAATTGACTTTGTCCTACCGAGTAAAGGGCTCAGGCCACCCACAGCAGCCAGACTTATCCCCACATGGTCCCACTTCCCTGATTCCATCTGAATCCCTCTTGAGCTGCAGTGGGCTGAAGGGCTATCCCAGCTGGTCCTTTCTCCCCAGGACAACAGAGTTGAAAGTGCCTTGGAGAGTGTTGGGCACATGTCAGGGTTCATACTCAAGGGTTTCTTCCACGGTATCCAGTGCTGTTCTCGCTTGTTCTTTTCTTTTTTTTTTTTTAAACGGAGTTTCACTCTTGTTGCCCAGAGCTGGAGTGCAGTGGCATAATCTCGGCTCACTGCAACCTCCGCCTCCCAGATTCAAGCAATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTATAGGTGCCAGCCACCAAGCCCGGCTAATTTTTGTATTTTTAGTAGAGACAGTTTCACCATGTTGGCCAGGCTGGTCTCGAACTCCTGACCTCAGGTGATCCACCCTCCTCAGCCTCCCAAAGTGCTGGGATTACATGTGTGAGCCACTGTGCCTGGCTGCTTGTTCTTTTAAGAACCAAATATCCTACTAGACTGCAATCGAGTTTAACTACAGTCTATAGATAGTGTGAGGAAGGGTTGGGAAGGTGATCAAATGAAGGCTGGAGGCTTGCTTAGGTCAGAAACATTTCTGGAGGATGACTTTGAGCCCTACATGGTCTGTACCCCAGCAGCTGAAGGTTGTTGAGGGGTGGGGAGGGCTGAAAACAGAACGATAAAGCATAGACCTTGTCTCCAAGGAATGCACAATTTATGGAGGGAG
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Task1_train_15952
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The gene BEST1 (bestrophin 1) is located on Chromosome 11, where a mutation has occurred. What is the medical relevance of this mutation?
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Pathogenic; not provided
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GGCTGCCCTTTTGGGAAACTGAGGCTAGAAGGACCAAGGAAGCAGCTGGGGTGGGAAGGGCTCACCTAGAGGCTAAGTGGCTCCCCTGGGAGTTGGGTCCACACTTTGAAGTTGGGTCTGGACTTTGAAGTGCCAAGTTCTAAGAGTCCAGGCTCCTGCCTGGCCCAGTCCAGTAGAGGCAATGTGATTATCCCCATATTAAAGAGAGGTTGGCCGGGTGCAGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAAGCTGAGGCAGGTGGATCACCTGAGGTCAGGAGTTCGAGACCAGCCTGGCCAACATGGTGAAACCCCATCTCTACTGAAAATACAGAATTAGCTGTGTGGTGGTGCACGCCTGTAATCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATCGCTTGAACCCGGGAGGTGGAGGTTGCAGTGAGCTGAGATCATGCCACTGCACTCCAGCCTGGGCGACACAGCAAGACTCTGTCTCAAACAAACAAACAAACAAACAAACAAAGGGGTTAACAGAGCCCCTAAGTCACATAAGTGTGCAAGTCAGAACAAGGCCTTGGTCTCCTGTCTCAGACTCCCAGCCCCTGGAGCATCCTGATTTCAGGGTTCCCACCTAGCCCTTTGCTACCACATCCTCCTCCTCCTCCCAGGTGGTGACTGTGGCGGTGTACAGCTTCTTCCTGACTTGTCTAGTTGGGCGGCAGTTTCTGAACCCAGCCAAGGCCTACCCTGGCCATGAGCTGGACCTCGTTGTGCCCGTCTTCACGTTCCTGCAGTTCTTCTTCTATGTTGGCTGGCTGAAGGTGGGCCTCTCCAGGGCCCTGCTGGGCTGGAGGCATGGCCAGAGGGGTCATGGCCAGCAGCTGCCTGAGACGAGGATGCAGTGTCAGGAAAGGAAGGTCTCACGGGTAGAAAGCAGCCAGGCGTGGTGGCGCACACCTGTAATCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATCGCTTGAACCCGGGAGGCGGAGGTTGTGGTGAGTTGAGATCGTGCCACTGCACTCCAGCCTGGGCAAAAGAATGAAACTCTATCTCAAAAACAACAACAACAACAAAACAAAGCCCTAAGGTTCAGAAGCCCCTGCCCTTTAGAAGGCAGATCGGCACCACCTCTCCTTATTCAAGATGCCTGTTGGGCTGTCTTGTTCCTCACCTCAAGTGGCTTGTCCAGGTATTCCCTCCCACCACAGCCAATACTCCGAACAGATGTTCTGAATCACACAGTTTTCTCTCCACCTCTTTATCTTTCCTTCCTTCTGTTGCCCACCCACTCTCTCTCCCTTCCTACCTTCCTTTATTTTTTGGTAATGGGGGTGTAAGTCTCTGTCTCTGCCCTTCCTGTCACTGTGACACACACACACACACACACACACACACACACATACACACACACACACACGCATTCCTATTCCTCTAAATTCCCCCTGCCCCCCCAGTTATCTTTGGTTTCTGCAGATCAAAACAAATCACACTTTTATGCTTGAAATTCTCCGGGGTGCCCCAGTGGCCTGCAAGATGTCCCCTGGACCCCTAAGGCAGACGCGTGTCACCTCTTCGGGGCTTTGTTAGGGCATTTTAGAGGTTGCTATCCAGGAATCTGCCCACCTAGACTGCCCTTTAGTTCAGCCCAGCTTCAGTATATATCTCTGTTGCATGAATGAATAAAATTATGCAACTCCAGGTAAGATACATGAGGTGAGATAAAGGCAGTGACTCAGCCGAGTGATACACTCAGGGACAGCTGTGGGTGTTCAGGGAAGGACTGGCTCAGAAGAGTTAGAGGGGCTGTGTCCAGAAGTGTGTGGGTGCCCACAAGTGTGGGGGGCTGGAGCCCTAAACTCTGCCTTTGAAGACAGTGGTCAGGCAGGAAGGGCGTCATGGGGTGTGGAAATAGCAGCAGCTGAGGTTTAAAGGGGGAAGCTGGCTTTGAGGAGTTCTGCCTGAGGGTTTACAGAGCCTCACCTGTCCCCAAGGTGGCAGAGCAGCTCATCAACCCCTTTGGAGAGGATGATGATGATTTTGAGACCAACTGGATTGTCGACAGGAATTTGCAGGTATGGGGAGAGGGAGAGAAACCATACCATGGACCTTCCCCAAAGTGGACCCAAAGAGAGGACCCCACTGTTCTGTAGGGAGGCCTCACAGTGAATGATCAACCCTTCCCCTCCTCCCTCCTGCAGCCAGTCATTCACTCACAGGATTCTCACCTCAATCTTTGAGGCTGCAGGCAGGCACCCATCTCCCCATTTCACAGGCAGGGAAACTGAGGTCCAGAGAGAGGGAGAGATTCCTCCAAGTCATCAGGCACATACAAGGTCCTGCCTGGGATGATCTTTCTGTGGGACTTCTTCTGTCCCTGGTGACCAGGTGTCCCTGTTGGCTGTGGATGAGATGCACCAGGACCTGCCTCGGATGGAGCCGGACATGTACTGGAATAAGCCCGAGCCACAGCCCCCCTACACAGCTGCTTCCGCCCAGTTCCGTCGAGCCTCCTTTATGGGCTCCACCTTCAACATCAGGTGTGGCCAGAGCCAGGGGGCTGGGTGGGAAGCCCCTCCTAGTGCAGGGGTCTGCCTAGGAACTTAGAATAGCACTAGTTAATGCATACAGGTTGCTTCAGTAAGTGTCAGGCACTGTACTATGCTCTTTATAAACATTAACTATTTTTTTCCTCCCAATAATTCTGGTTTGTTATCCCAAGTTTTCAGATAATTAAAGTACAGGTTCAGAGAGAGTAAGTTGTCCAAGGCCACATAGCTACCAAATGGTGCATTTGCTACTCGAAGGACAGCCTGTGATCAGTGATGCAGTGGAACGTTAGGACCTGGCTCTTGTCATCCAGAACTATGTTTTCTTTTCTTTTTGAGACAGTATCTCGCTCTGTCGCCCAGGTTGGAGCGCAGTGGCGTGATCTTGGCTCACTGCAACCTCCGCCTCCTGGGTTCAAGTGATTCTCCTGCTTCAGCCTCCCCAGTAGCTGGGATTACAGGTGCCCACAACCACAACTGGCTAATTTTTGTACTTTTAGTAGAGATGAGGTTTCACCATGTTGGCCAGGCTGGTCTCCAACTCCTGACCAGTAATCTGCCCGCTTTGGCCTCCCAAAATGCTGGAATTATAGGTGTCAAAACTATGTTTTCTGATAAGCTACGATGCTTGGATGGGAAGTGGAAGTGGGGTTCCCTGGGATGGGGGAGGGGCAGCAAAGTCCCAGCAGGCAGCCAGGCCATCACAGGTACCTCCTGAATTGACTTTGTCCTACCGAGTAAAGGGCTCAGGCCACCCACAGCAGCCAGACTTATCCCCACATGGTCCCACTTCCCTGATTCCATCTGAATCCCTCTTGAGCTGCAGTGGGCTGAAGGGCTATCCCAGCTGGTCCTTTCTCCCCAGGACAACAGAGTTGAAAGTGCCTTGGAGAGTGTTGGGCACATGTCAGGGTTCATACTCAAGGGTTTCTTCCACGGTATCCAGTGCTGTTCTCGCTTGTTCTTTTCTTTTTTTTTTTTTAAACGGAGTTTCACTCTTGTTGCCCAGAGCTGGAGTGCAGTGGCATAATCTCGGCTCACTGCAACCTCCGCCTCCCAGATTCAAGCAATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTATAGGTGCCAGCCACCAAGCCCGGCTAATTTTTGTATTTTTAGTAGAGACAGTTTCACCATGTTGGCCAGGCTGGTCTCGAACTCCTGACCTCAGGTGATCCACCCTCCTCAGCCTCCCAAAGTGCTGGGATTACATGTGTGAGCCACTGTGCCTGGCTGCTTGTTCTTTTAAGAACCAAATATCCTACTAGACTGCAATCGAGTTTAACTACAGTCTATAGATAGTGTGAGGAAGGGTTGGGAAGGTGATCAAATGAAGGCTGGAGGCTTGCTTAGGTCAGAAACATTTCTGGAGGATGACTTTGAGCCCTACATGGTCTGTACCCCAGCAGCTGAAGGTTGTTGAGGGGTGGGGAGGGCTGAAAACAGAACGATAAAGCATAGACCTTGTCTCCAAGGAATGCACAATTTATGGAGGGAGC
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GGCTGCCCTTTTGGGAAACTGAGGCTAGAAGGACCAAGGAAGCAGCTGGGGTGGGAAGGGCTCACCTAGAGGCTAAGTGGCTCCCCTGGGAGTTGGGTCCACACTTTGAAGTTGGGTCTGGACTTTGAAGTGCCAAGTTCTAAGAGTCCAGGCTCCTGCCTGGCCCAGTCCAGTAGAGGCAATGTGATTATCCCCATATTAAAGAGAGGTTGGCCGGGTGCAGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAAGCTGAGGCAGGTGGATCACCTGAGGTCAGGAGTTCGAGACCAGCCTGGCCAACATGGTGAAACCCCATCTCTACTGAAAATACAGAATTAGCTGTGTGGTGGTGCACGCCTGTAATCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATCGCTTGAACCCGGGAGGTGGAGGTTGCAGTGAGCTGAGATCATGCCACTGCACTCCAGCCTGGGCGACACAGCAAGACTCTGTCTCAAACAAACAAACAAACAAACAAACAAAGGGGTTAACAGAGCCCCTAAGTCACATAAGTGTGCAAGTCAGAACAAGGCCTTGGTCTCCTGTCTCAGACTCCCAGCCCCTGGAGCATCCTGATTTCAGGGTTCCCACCTAGCCCTTTGCTACCACATCCTCCTCCTCCTCCCAGGTGGTGACTGTGGCGGTGTACAGCTTCTTCCTGACTTGTCTAGTTGGGCGGCAGTTTCTGAACCCAGCCAAGGCCTACCCTGGCCATGAGCTGGACCTCGTTGTGCCCGTCTTCACGTTCCTGCAGTTCTTCTTCTATGTTGGCTGGCTGAAGGTGGGCCTCTCCAGGGCCCTGCTGGGCTGGAGGCATGGCCAGAGGGGTCATGGCCAGCAGCTGCCTGAGACGAGGATGCAGTGTCAGGAAAGGAAGGTCTCACGGGTAGAAAGCAGCCAGGCGTGGTGGCGCACACCTGTAATCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATCGCTTGAACCCGGGAGGCGGAGGTTGTGGTGAGTTGAGATCGTGCCACTGCACTCCAGCCTGGGCAAAAGAATGAAACTCTATCTCAAAAACAACAACAACAACAAAACAAAGCCCTAAGGTTCAGAAGCCCCTGCCCTTTAGAAGGCAGATCGGCACCACCTCTCCTTATTCAAGATGCCTGTTGGGCTGTCTTGTTCCTCACCTCAAGTGGCTTGTCCAGGTATTCCCTCCCACCACAGCCAATACTCCGAACAGATGTTCTGAATCACACAGTTTTCTCTCCACCTCTTTATCTTTCCTTCCTTCTGTTGCCCACCCACTCTCTCTCCCTTCCTACCTTCCTTTATTTTTTGGTAATGGGGGTGTAAGTCTCTGTCTCTGCCCTTCCTGTCACTGTGACACACACACACACACACACACACACACACACATACACACACACACACACGCATTCCTATTCCTCTAAATTCCCCCTGCCCCCCCAGTTATCTTTGGTTTCTGCAGATCAAAACAAATCACACTTTTATGCTTGAAATTCTCCGGGGTGCCCCAGTGGCCTGCAAGATGTCCCCTGGACCCCTAAGGCAGACGCGTGTCACCTCTTCGGGGCTTTGTTAGGGCATTTTAGAGGTTGCTATCCAGGAATCTGCCCACCTAGACTGCCCTTTAGTTCAGCCCAGCTTCAGTATATATCTCTGTTGCATGAATGAATAAAATTATGCAACTCCAGGTAAGATACATGAGGTGAGATAAAGGCAGTGACTCAGCCGAGTGATACACTCAGGGACAGCTGTGGGTGTTCAGGGAAGGACTGGCTCAGAAGAGTTAGAGGGGCTGTGTCCAGAAGTGTGTGGGTGCCCACAAGTGTGGGGGGCTGGAGCCCTAAACTCTGCCTTTGAAGACAGTGGTCAGGCAGGAAGGGCGTCATGGGGTGTGGAAATAGCAGCAGCTGAGGTTTAAAGGGGGAAGCTGGCTTTGAGGAGTTCTGCCTGAGGGTTTACAGAGCCTCACCTGTCCCCAAGGTGGCAGAGCAGCTCATCAACCCCTTTGGAGAGGGTGATGATGATTTTGAGACCAACTGGATTGTCGACAGGAATTTGCAGGTATGGGGAGAGGGAGAGAAACCATACCATGGACCTTCCCCAAAGTGGACCCAAAGAGAGGACCCCACTGTTCTGTAGGGAGGCCTCACAGTGAATGATCAACCCTTCCCCTCCTCCCTCCTGCAGCCAGTCATTCACTCACAGGATTCTCACCTCAATCTTTGAGGCTGCAGGCAGGCACCCATCTCCCCATTTCACAGGCAGGGAAACTGAGGTCCAGAGAGAGGGAGAGATTCCTCCAAGTCATCAGGCACATACAAGGTCCTGCCTGGGATGATCTTTCTGTGGGACTTCTTCTGTCCCTGGTGACCAGGTGTCCCTGTTGGCTGTGGATGAGATGCACCAGGACCTGCCTCGGATGGAGCCGGACATGTACTGGAATAAGCCCGAGCCACAGCCCCCCTACACAGCTGCTTCCGCCCAGTTCCGTCGAGCCTCCTTTATGGGCTCCACCTTCAACATCAGGTGTGGCCAGAGCCAGGGGGCTGGGTGGGAAGCCCCTCCTAGTGCAGGGGTCTGCCTAGGAACTTAGAATAGCACTAGTTAATGCATACAGGTTGCTTCAGTAAGTGTCAGGCACTGTACTATGCTCTTTATAAACATTAACTATTTTTTTCCTCCCAATAATTCTGGTTTGTTATCCCAAGTTTTCAGATAATTAAAGTACAGGTTCAGAGAGAGTAAGTTGTCCAAGGCCACATAGCTACCAAATGGTGCATTTGCTACTCGAAGGACAGCCTGTGATCAGTGATGCAGTGGAACGTTAGGACCTGGCTCTTGTCATCCAGAACTATGTTTTCTTTTCTTTTTGAGACAGTATCTCGCTCTGTCGCCCAGGTTGGAGCGCAGTGGCGTGATCTTGGCTCACTGCAACCTCCGCCTCCTGGGTTCAAGTGATTCTCCTGCTTCAGCCTCCCCAGTAGCTGGGATTACAGGTGCCCACAACCACAACTGGCTAATTTTTGTACTTTTAGTAGAGATGAGGTTTCACCATGTTGGCCAGGCTGGTCTCCAACTCCTGACCAGTAATCTGCCCGCTTTGGCCTCCCAAAATGCTGGAATTATAGGTGTCAAAACTATGTTTTCTGATAAGCTACGATGCTTGGATGGGAAGTGGAAGTGGGGTTCCCTGGGATGGGGGAGGGGCAGCAAAGTCCCAGCAGGCAGCCAGGCCATCACAGGTACCTCCTGAATTGACTTTGTCCTACCGAGTAAAGGGCTCAGGCCACCCACAGCAGCCAGACTTATCCCCACATGGTCCCACTTCCCTGATTCCATCTGAATCCCTCTTGAGCTGCAGTGGGCTGAAGGGCTATCCCAGCTGGTCCTTTCTCCCCAGGACAACAGAGTTGAAAGTGCCTTGGAGAGTGTTGGGCACATGTCAGGGTTCATACTCAAGGGTTTCTTCCACGGTATCCAGTGCTGTTCTCGCTTGTTCTTTTCTTTTTTTTTTTTTAAACGGAGTTTCACTCTTGTTGCCCAGAGCTGGAGTGCAGTGGCATAATCTCGGCTCACTGCAACCTCCGCCTCCCAGATTCAAGCAATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTATAGGTGCCAGCCACCAAGCCCGGCTAATTTTTGTATTTTTAGTAGAGACAGTTTCACCATGTTGGCCAGGCTGGTCTCGAACTCCTGACCTCAGGTGATCCACCCTCCTCAGCCTCCCAAAGTGCTGGGATTACATGTGTGAGCCACTGTGCCTGGCTGCTTGTTCTTTTAAGAACCAAATATCCTACTAGACTGCAATCGAGTTTAACTACAGTCTATAGATAGTGTGAGGAAGGGTTGGGAAGGTGATCAAATGAAGGCTGGAGGCTTGCTTAGGTCAGAAACATTTCTGGAGGATGACTTTGAGCCCTACATGGTCTGTACCCCAGCAGCTGAAGGTTGTTGAGGGGTGGGGAGGGCTGAAAACAGAACGATAAAGCATAGACCTTGTCTCCAAGGAATGCACAATTTATGGAGGGAGC
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Task1_train_15953
|
This variant impacts the gene BEST1 (bestrophin 1) on Chromosome 11. Is the change likely to result in a pathogenic outcome?
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Pathogenic; Retinal dystrophy
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GCTGCCCTTTTGGGAAACTGAGGCTAGAAGGACCAAGGAAGCAGCTGGGGTGGGAAGGGCTCACCTAGAGGCTAAGTGGCTCCCCTGGGAGTTGGGTCCACACTTTGAAGTTGGGTCTGGACTTTGAAGTGCCAAGTTCTAAGAGTCCAGGCTCCTGCCTGGCCCAGTCCAGTAGAGGCAATGTGATTATCCCCATATTAAAGAGAGGTTGGCCGGGTGCAGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAAGCTGAGGCAGGTGGATCACCTGAGGTCAGGAGTTCGAGACCAGCCTGGCCAACATGGTGAAACCCCATCTCTACTGAAAATACAGAATTAGCTGTGTGGTGGTGCACGCCTGTAATCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATCGCTTGAACCCGGGAGGTGGAGGTTGCAGTGAGCTGAGATCATGCCACTGCACTCCAGCCTGGGCGACACAGCAAGACTCTGTCTCAAACAAACAAACAAACAAACAAACAAAGGGGTTAACAGAGCCCCTAAGTCACATAAGTGTGCAAGTCAGAACAAGGCCTTGGTCTCCTGTCTCAGACTCCCAGCCCCTGGAGCATCCTGATTTCAGGGTTCCCACCTAGCCCTTTGCTACCACATCCTCCTCCTCCTCCCAGGTGGTGACTGTGGCGGTGTACAGCTTCTTCCTGACTTGTCTAGTTGGGCGGCAGTTTCTGAACCCAGCCAAGGCCTACCCTGGCCATGAGCTGGACCTCGTTGTGCCCGTCTTCACGTTCCTGCAGTTCTTCTTCTATGTTGGCTGGCTGAAGGTGGGCCTCTCCAGGGCCCTGCTGGGCTGGAGGCATGGCCAGAGGGGTCATGGCCAGCAGCTGCCTGAGACGAGGATGCAGTGTCAGGAAAGGAAGGTCTCACGGGTAGAAAGCAGCCAGGCGTGGTGGCGCACACCTGTAATCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATCGCTTGAACCCGGGAGGCGGAGGTTGTGGTGAGTTGAGATCGTGCCACTGCACTCCAGCCTGGGCAAAAGAATGAAACTCTATCTCAAAAACAACAACAACAACAAAACAAAGCCCTAAGGTTCAGAAGCCCCTGCCCTTTAGAAGGCAGATCGGCACCACCTCTCCTTATTCAAGATGCCTGTTGGGCTGTCTTGTTCCTCACCTCAAGTGGCTTGTCCAGGTATTCCCTCCCACCACAGCCAATACTCCGAACAGATGTTCTGAATCACACAGTTTTCTCTCCACCTCTTTATCTTTCCTTCCTTCTGTTGCCCACCCACTCTCTCTCCCTTCCTACCTTCCTTTATTTTTTGGTAATGGGGGTGTAAGTCTCTGTCTCTGCCCTTCCTGTCACTGTGACACACACACACACACACACACACACACACACATACACACACACACACACGCATTCCTATTCCTCTAAATTCCCCCTGCCCCCCCAGTTATCTTTGGTTTCTGCAGATCAAAACAAATCACACTTTTATGCTTGAAATTCTCCGGGGTGCCCCAGTGGCCTGCAAGATGTCCCCTGGACCCCTAAGGCAGACGCGTGTCACCTCTTCGGGGCTTTGTTAGGGCATTTTAGAGGTTGCTATCCAGGAATCTGCCCACCTAGACTGCCCTTTAGTTCAGCCCAGCTTCAGTATATATCTCTGTTGCATGAATGAATAAAATTATGCAACTCCAGGTAAGATACATGAGGTGAGATAAAGGCAGTGACTCAGCCGAGTGATACACTCAGGGACAGCTGTGGGTGTTCAGGGAAGGACTGGCTCAGAAGAGTTAGAGGGGCTGTGTCCAGAAGTGTGTGGGTGCCCACAAGTGTGGGGGGCTGGAGCCCTAAACTCTGCCTTTGAAGACAGTGGTCAGGCAGGAAGGGCGTCATGGGGTGTGGAAATAGCAGCAGCTGAGGTTTAAAGGGGGAAGCTGGCTTTGAGGAGTTCTGCCTGAGGGTTTACAGAGCCTCACCTGTCCCCAAGGTGGCAGAGCAGCTCATCAACCCCTTTGGAGAGGATGATGATGATTTTGAGACCAACTGGATTGTCGACAGGAATTTGCAGGTATGGGGAGAGGGAGAGAAACCATACCATGGACCTTCCCCAAAGTGGACCCAAAGAGAGGACCCCACTGTTCTGTAGGGAGGCCTCACAGTGAATGATCAACCCTTCCCCTCCTCCCTCCTGCAGCCAGTCATTCACTCACAGGATTCTCACCTCAATCTTTGAGGCTGCAGGCAGGCACCCATCTCCCCATTTCACAGGCAGGGAAACTGAGGTCCAGAGAGAGGGAGAGATTCCTCCAAGTCATCAGGCACATACAAGGTCCTGCCTGGGATGATCTTTCTGTGGGACTTCTTCTGTCCCTGGTGACCAGGTGTCCCTGTTGGCTGTGGATGAGATGCACCAGGACCTGCCTCGGATGGAGCCGGACATGTACTGGAATAAGCCCGAGCCACAGCCCCCCTACACAGCTGCTTCCGCCCAGTTCCGTCGAGCCTCCTTTATGGGCTCCACCTTCAACATCAGGTGTGGCCAGAGCCAGGGGGCTGGGTGGGAAGCCCCTCCTAGTGCAGGGGTCTGCCTAGGAACTTAGAATAGCACTAGTTAATGCATACAGGTTGCTTCAGTAAGTGTCAGGCACTGTACTATGCTCTTTATAAACATTAACTATTTTTTTCCTCCCAATAATTCTGGTTTGTTATCCCAAGTTTTCAGATAATTAAAGTACAGGTTCAGAGAGAGTAAGTTGTCCAAGGCCACATAGCTACCAAATGGTGCATTTGCTACTCGAAGGACAGCCTGTGATCAGTGATGCAGTGGAACGTTAGGACCTGGCTCTTGTCATCCAGAACTATGTTTTCTTTTCTTTTTGAGACAGTATCTCGCTCTGTCGCCCAGGTTGGAGCGCAGTGGCGTGATCTTGGCTCACTGCAACCTCCGCCTCCTGGGTTCAAGTGATTCTCCTGCTTCAGCCTCCCCAGTAGCTGGGATTACAGGTGCCCACAACCACAACTGGCTAATTTTTGTACTTTTAGTAGAGATGAGGTTTCACCATGTTGGCCAGGCTGGTCTCCAACTCCTGACCAGTAATCTGCCCGCTTTGGCCTCCCAAAATGCTGGAATTATAGGTGTCAAAACTATGTTTTCTGATAAGCTACGATGCTTGGATGGGAAGTGGAAGTGGGGTTCCCTGGGATGGGGGAGGGGCAGCAAAGTCCCAGCAGGCAGCCAGGCCATCACAGGTACCTCCTGAATTGACTTTGTCCTACCGAGTAAAGGGCTCAGGCCACCCACAGCAGCCAGACTTATCCCCACATGGTCCCACTTCCCTGATTCCATCTGAATCCCTCTTGAGCTGCAGTGGGCTGAAGGGCTATCCCAGCTGGTCCTTTCTCCCCAGGACAACAGAGTTGAAAGTGCCTTGGAGAGTGTTGGGCACATGTCAGGGTTCATACTCAAGGGTTTCTTCCACGGTATCCAGTGCTGTTCTCGCTTGTTCTTTTCTTTTTTTTTTTTTAAACGGAGTTTCACTCTTGTTGCCCAGAGCTGGAGTGCAGTGGCATAATCTCGGCTCACTGCAACCTCCGCCTCCCAGATTCAAGCAATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTATAGGTGCCAGCCACCAAGCCCGGCTAATTTTTGTATTTTTAGTAGAGACAGTTTCACCATGTTGGCCAGGCTGGTCTCGAACTCCTGACCTCAGGTGATCCACCCTCCTCAGCCTCCCAAAGTGCTGGGATTACATGTGTGAGCCACTGTGCCTGGCTGCTTGTTCTTTTAAGAACCAAATATCCTACTAGACTGCAATCGAGTTTAACTACAGTCTATAGATAGTGTGAGGAAGGGTTGGGAAGGTGATCAAATGAAGGCTGGAGGCTTGCTTAGGTCAGAAACATTTCTGGAGGATGACTTTGAGCCCTACATGGTCTGTACCCCAGCAGCTGAAGGTTGTTGAGGGGTGGGGAGGGCTGAAAACAGAACGATAAAGCATAGACCTTGTCTCCAAGGAATGCACAATTTATGGAGGGAGCT
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GCTGCCCTTTTGGGAAACTGAGGCTAGAAGGACCAAGGAAGCAGCTGGGGTGGGAAGGGCTCACCTAGAGGCTAAGTGGCTCCCCTGGGAGTTGGGTCCACACTTTGAAGTTGGGTCTGGACTTTGAAGTGCCAAGTTCTAAGAGTCCAGGCTCCTGCCTGGCCCAGTCCAGTAGAGGCAATGTGATTATCCCCATATTAAAGAGAGGTTGGCCGGGTGCAGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAAGCTGAGGCAGGTGGATCACCTGAGGTCAGGAGTTCGAGACCAGCCTGGCCAACATGGTGAAACCCCATCTCTACTGAAAATACAGAATTAGCTGTGTGGTGGTGCACGCCTGTAATCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATCGCTTGAACCCGGGAGGTGGAGGTTGCAGTGAGCTGAGATCATGCCACTGCACTCCAGCCTGGGCGACACAGCAAGACTCTGTCTCAAACAAACAAACAAACAAACAAACAAAGGGGTTAACAGAGCCCCTAAGTCACATAAGTGTGCAAGTCAGAACAAGGCCTTGGTCTCCTGTCTCAGACTCCCAGCCCCTGGAGCATCCTGATTTCAGGGTTCCCACCTAGCCCTTTGCTACCACATCCTCCTCCTCCTCCCAGGTGGTGACTGTGGCGGTGTACAGCTTCTTCCTGACTTGTCTAGTTGGGCGGCAGTTTCTGAACCCAGCCAAGGCCTACCCTGGCCATGAGCTGGACCTCGTTGTGCCCGTCTTCACGTTCCTGCAGTTCTTCTTCTATGTTGGCTGGCTGAAGGTGGGCCTCTCCAGGGCCCTGCTGGGCTGGAGGCATGGCCAGAGGGGTCATGGCCAGCAGCTGCCTGAGACGAGGATGCAGTGTCAGGAAAGGAAGGTCTCACGGGTAGAAAGCAGCCAGGCGTGGTGGCGCACACCTGTAATCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATCGCTTGAACCCGGGAGGCGGAGGTTGTGGTGAGTTGAGATCGTGCCACTGCACTCCAGCCTGGGCAAAAGAATGAAACTCTATCTCAAAAACAACAACAACAACAAAACAAAGCCCTAAGGTTCAGAAGCCCCTGCCCTTTAGAAGGCAGATCGGCACCACCTCTCCTTATTCAAGATGCCTGTTGGGCTGTCTTGTTCCTCACCTCAAGTGGCTTGTCCAGGTATTCCCTCCCACCACAGCCAATACTCCGAACAGATGTTCTGAATCACACAGTTTTCTCTCCACCTCTTTATCTTTCCTTCCTTCTGTTGCCCACCCACTCTCTCTCCCTTCCTACCTTCCTTTATTTTTTGGTAATGGGGGTGTAAGTCTCTGTCTCTGCCCTTCCTGTCACTGTGACACACACACACACACACACACACACACACACATACACACACACACACACGCATTCCTATTCCTCTAAATTCCCCCTGCCCCCCCAGTTATCTTTGGTTTCTGCAGATCAAAACAAATCACACTTTTATGCTTGAAATTCTCCGGGGTGCCCCAGTGGCCTGCAAGATGTCCCCTGGACCCCTAAGGCAGACGCGTGTCACCTCTTCGGGGCTTTGTTAGGGCATTTTAGAGGTTGCTATCCAGGAATCTGCCCACCTAGACTGCCCTTTAGTTCAGCCCAGCTTCAGTATATATCTCTGTTGCATGAATGAATAAAATTATGCAACTCCAGGTAAGATACATGAGGTGAGATAAAGGCAGTGACTCAGCCGAGTGATACACTCAGGGACAGCTGTGGGTGTTCAGGGAAGGACTGGCTCAGAAGAGTTAGAGGGGCTGTGTCCAGAAGTGTGTGGGTGCCCACAAGTGTGGGGGGCTGGAGCCCTAAACTCTGCCTTTGAAGACAGTGGTCAGGCAGGAAGGGCGTCATGGGGTGTGGAAATAGCAGCAGCTGAGGTTTAAAGGGGGAAGCTGGCTTTGAGGAGTTCTGCCTGAGGGTTTACAGAGCCTCACCTGTCCCCAAGGTGGCAGAGCAGCTCATCAACCCCTTTGGAGAGGAGGATGATGATTTTGAGACCAACTGGATTGTCGACAGGAATTTGCAGGTATGGGGAGAGGGAGAGAAACCATACCATGGACCTTCCCCAAAGTGGACCCAAAGAGAGGACCCCACTGTTCTGTAGGGAGGCCTCACAGTGAATGATCAACCCTTCCCCTCCTCCCTCCTGCAGCCAGTCATTCACTCACAGGATTCTCACCTCAATCTTTGAGGCTGCAGGCAGGCACCCATCTCCCCATTTCACAGGCAGGGAAACTGAGGTCCAGAGAGAGGGAGAGATTCCTCCAAGTCATCAGGCACATACAAGGTCCTGCCTGGGATGATCTTTCTGTGGGACTTCTTCTGTCCCTGGTGACCAGGTGTCCCTGTTGGCTGTGGATGAGATGCACCAGGACCTGCCTCGGATGGAGCCGGACATGTACTGGAATAAGCCCGAGCCACAGCCCCCCTACACAGCTGCTTCCGCCCAGTTCCGTCGAGCCTCCTTTATGGGCTCCACCTTCAACATCAGGTGTGGCCAGAGCCAGGGGGCTGGGTGGGAAGCCCCTCCTAGTGCAGGGGTCTGCCTAGGAACTTAGAATAGCACTAGTTAATGCATACAGGTTGCTTCAGTAAGTGTCAGGCACTGTACTATGCTCTTTATAAACATTAACTATTTTTTTCCTCCCAATAATTCTGGTTTGTTATCCCAAGTTTTCAGATAATTAAAGTACAGGTTCAGAGAGAGTAAGTTGTCCAAGGCCACATAGCTACCAAATGGTGCATTTGCTACTCGAAGGACAGCCTGTGATCAGTGATGCAGTGGAACGTTAGGACCTGGCTCTTGTCATCCAGAACTATGTTTTCTTTTCTTTTTGAGACAGTATCTCGCTCTGTCGCCCAGGTTGGAGCGCAGTGGCGTGATCTTGGCTCACTGCAACCTCCGCCTCCTGGGTTCAAGTGATTCTCCTGCTTCAGCCTCCCCAGTAGCTGGGATTACAGGTGCCCACAACCACAACTGGCTAATTTTTGTACTTTTAGTAGAGATGAGGTTTCACCATGTTGGCCAGGCTGGTCTCCAACTCCTGACCAGTAATCTGCCCGCTTTGGCCTCCCAAAATGCTGGAATTATAGGTGTCAAAACTATGTTTTCTGATAAGCTACGATGCTTGGATGGGAAGTGGAAGTGGGGTTCCCTGGGATGGGGGAGGGGCAGCAAAGTCCCAGCAGGCAGCCAGGCCATCACAGGTACCTCCTGAATTGACTTTGTCCTACCGAGTAAAGGGCTCAGGCCACCCACAGCAGCCAGACTTATCCCCACATGGTCCCACTTCCCTGATTCCATCTGAATCCCTCTTGAGCTGCAGTGGGCTGAAGGGCTATCCCAGCTGGTCCTTTCTCCCCAGGACAACAGAGTTGAAAGTGCCTTGGAGAGTGTTGGGCACATGTCAGGGTTCATACTCAAGGGTTTCTTCCACGGTATCCAGTGCTGTTCTCGCTTGTTCTTTTCTTTTTTTTTTTTTAAACGGAGTTTCACTCTTGTTGCCCAGAGCTGGAGTGCAGTGGCATAATCTCGGCTCACTGCAACCTCCGCCTCCCAGATTCAAGCAATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTATAGGTGCCAGCCACCAAGCCCGGCTAATTTTTGTATTTTTAGTAGAGACAGTTTCACCATGTTGGCCAGGCTGGTCTCGAACTCCTGACCTCAGGTGATCCACCCTCCTCAGCCTCCCAAAGTGCTGGGATTACATGTGTGAGCCACTGTGCCTGGCTGCTTGTTCTTTTAAGAACCAAATATCCTACTAGACTGCAATCGAGTTTAACTACAGTCTATAGATAGTGTGAGGAAGGGTTGGGAAGGTGATCAAATGAAGGCTGGAGGCTTGCTTAGGTCAGAAACATTTCTGGAGGATGACTTTGAGCCCTACATGGTCTGTACCCCAGCAGCTGAAGGTTGTTGAGGGGTGGGGAGGGCTGAAAACAGAACGATAAAGCATAGACCTTGTCTCCAAGGAATGCACAATTTATGGAGGGAGCT
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Task1_train_15954
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A variant found in Chromosome 11 affects BEST1 (bestrophin 1). Please analyze its biological impact: is it benign or pathogenic, and what condition might it cause?
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Pathogenic; Vitelliform macular dystrophy 2
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CTGCCCTTTTGGGAAACTGAGGCTAGAAGGACCAAGGAAGCAGCTGGGGTGGGAAGGGCTCACCTAGAGGCTAAGTGGCTCCCCTGGGAGTTGGGTCCACACTTTGAAGTTGGGTCTGGACTTTGAAGTGCCAAGTTCTAAGAGTCCAGGCTCCTGCCTGGCCCAGTCCAGTAGAGGCAATGTGATTATCCCCATATTAAAGAGAGGTTGGCCGGGTGCAGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAAGCTGAGGCAGGTGGATCACCTGAGGTCAGGAGTTCGAGACCAGCCTGGCCAACATGGTGAAACCCCATCTCTACTGAAAATACAGAATTAGCTGTGTGGTGGTGCACGCCTGTAATCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATCGCTTGAACCCGGGAGGTGGAGGTTGCAGTGAGCTGAGATCATGCCACTGCACTCCAGCCTGGGCGACACAGCAAGACTCTGTCTCAAACAAACAAACAAACAAACAAACAAAGGGGTTAACAGAGCCCCTAAGTCACATAAGTGTGCAAGTCAGAACAAGGCCTTGGTCTCCTGTCTCAGACTCCCAGCCCCTGGAGCATCCTGATTTCAGGGTTCCCACCTAGCCCTTTGCTACCACATCCTCCTCCTCCTCCCAGGTGGTGACTGTGGCGGTGTACAGCTTCTTCCTGACTTGTCTAGTTGGGCGGCAGTTTCTGAACCCAGCCAAGGCCTACCCTGGCCATGAGCTGGACCTCGTTGTGCCCGTCTTCACGTTCCTGCAGTTCTTCTTCTATGTTGGCTGGCTGAAGGTGGGCCTCTCCAGGGCCCTGCTGGGCTGGAGGCATGGCCAGAGGGGTCATGGCCAGCAGCTGCCTGAGACGAGGATGCAGTGTCAGGAAAGGAAGGTCTCACGGGTAGAAAGCAGCCAGGCGTGGTGGCGCACACCTGTAATCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATCGCTTGAACCCGGGAGGCGGAGGTTGTGGTGAGTTGAGATCGTGCCACTGCACTCCAGCCTGGGCAAAAGAATGAAACTCTATCTCAAAAACAACAACAACAACAAAACAAAGCCCTAAGGTTCAGAAGCCCCTGCCCTTTAGAAGGCAGATCGGCACCACCTCTCCTTATTCAAGATGCCTGTTGGGCTGTCTTGTTCCTCACCTCAAGTGGCTTGTCCAGGTATTCCCTCCCACCACAGCCAATACTCCGAACAGATGTTCTGAATCACACAGTTTTCTCTCCACCTCTTTATCTTTCCTTCCTTCTGTTGCCCACCCACTCTCTCTCCCTTCCTACCTTCCTTTATTTTTTGGTAATGGGGGTGTAAGTCTCTGTCTCTGCCCTTCCTGTCACTGTGACACACACACACACACACACACACACACACACATACACACACACACACACGCATTCCTATTCCTCTAAATTCCCCCTGCCCCCCCAGTTATCTTTGGTTTCTGCAGATCAAAACAAATCACACTTTTATGCTTGAAATTCTCCGGGGTGCCCCAGTGGCCTGCAAGATGTCCCCTGGACCCCTAAGGCAGACGCGTGTCACCTCTTCGGGGCTTTGTTAGGGCATTTTAGAGGTTGCTATCCAGGAATCTGCCCACCTAGACTGCCCTTTAGTTCAGCCCAGCTTCAGTATATATCTCTGTTGCATGAATGAATAAAATTATGCAACTCCAGGTAAGATACATGAGGTGAGATAAAGGCAGTGACTCAGCCGAGTGATACACTCAGGGACAGCTGTGGGTGTTCAGGGAAGGACTGGCTCAGAAGAGTTAGAGGGGCTGTGTCCAGAAGTGTGTGGGTGCCCACAAGTGTGGGGGGCTGGAGCCCTAAACTCTGCCTTTGAAGACAGTGGTCAGGCAGGAAGGGCGTCATGGGGTGTGGAAATAGCAGCAGCTGAGGTTTAAAGGGGGAAGCTGGCTTTGAGGAGTTCTGCCTGAGGGTTTACAGAGCCTCACCTGTCCCCAAGGTGGCAGAGCAGCTCATCAACCCCTTTGGAGAGGATGATGATGATTTTGAGACCAACTGGATTGTCGACAGGAATTTGCAGGTATGGGGAGAGGGAGAGAAACCATACCATGGACCTTCCCCAAAGTGGACCCAAAGAGAGGACCCCACTGTTCTGTAGGGAGGCCTCACAGTGAATGATCAACCCTTCCCCTCCTCCCTCCTGCAGCCAGTCATTCACTCACAGGATTCTCACCTCAATCTTTGAGGCTGCAGGCAGGCACCCATCTCCCCATTTCACAGGCAGGGAAACTGAGGTCCAGAGAGAGGGAGAGATTCCTCCAAGTCATCAGGCACATACAAGGTCCTGCCTGGGATGATCTTTCTGTGGGACTTCTTCTGTCCCTGGTGACCAGGTGTCCCTGTTGGCTGTGGATGAGATGCACCAGGACCTGCCTCGGATGGAGCCGGACATGTACTGGAATAAGCCCGAGCCACAGCCCCCCTACACAGCTGCTTCCGCCCAGTTCCGTCGAGCCTCCTTTATGGGCTCCACCTTCAACATCAGGTGTGGCCAGAGCCAGGGGGCTGGGTGGGAAGCCCCTCCTAGTGCAGGGGTCTGCCTAGGAACTTAGAATAGCACTAGTTAATGCATACAGGTTGCTTCAGTAAGTGTCAGGCACTGTACTATGCTCTTTATAAACATTAACTATTTTTTTCCTCCCAATAATTCTGGTTTGTTATCCCAAGTTTTCAGATAATTAAAGTACAGGTTCAGAGAGAGTAAGTTGTCCAAGGCCACATAGCTACCAAATGGTGCATTTGCTACTCGAAGGACAGCCTGTGATCAGTGATGCAGTGGAACGTTAGGACCTGGCTCTTGTCATCCAGAACTATGTTTTCTTTTCTTTTTGAGACAGTATCTCGCTCTGTCGCCCAGGTTGGAGCGCAGTGGCGTGATCTTGGCTCACTGCAACCTCCGCCTCCTGGGTTCAAGTGATTCTCCTGCTTCAGCCTCCCCAGTAGCTGGGATTACAGGTGCCCACAACCACAACTGGCTAATTTTTGTACTTTTAGTAGAGATGAGGTTTCACCATGTTGGCCAGGCTGGTCTCCAACTCCTGACCAGTAATCTGCCCGCTTTGGCCTCCCAAAATGCTGGAATTATAGGTGTCAAAACTATGTTTTCTGATAAGCTACGATGCTTGGATGGGAAGTGGAAGTGGGGTTCCCTGGGATGGGGGAGGGGCAGCAAAGTCCCAGCAGGCAGCCAGGCCATCACAGGTACCTCCTGAATTGACTTTGTCCTACCGAGTAAAGGGCTCAGGCCACCCACAGCAGCCAGACTTATCCCCACATGGTCCCACTTCCCTGATTCCATCTGAATCCCTCTTGAGCTGCAGTGGGCTGAAGGGCTATCCCAGCTGGTCCTTTCTCCCCAGGACAACAGAGTTGAAAGTGCCTTGGAGAGTGTTGGGCACATGTCAGGGTTCATACTCAAGGGTTTCTTCCACGGTATCCAGTGCTGTTCTCGCTTGTTCTTTTCTTTTTTTTTTTTTAAACGGAGTTTCACTCTTGTTGCCCAGAGCTGGAGTGCAGTGGCATAATCTCGGCTCACTGCAACCTCCGCCTCCCAGATTCAAGCAATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTATAGGTGCCAGCCACCAAGCCCGGCTAATTTTTGTATTTTTAGTAGAGACAGTTTCACCATGTTGGCCAGGCTGGTCTCGAACTCCTGACCTCAGGTGATCCACCCTCCTCAGCCTCCCAAAGTGCTGGGATTACATGTGTGAGCCACTGTGCCTGGCTGCTTGTTCTTTTAAGAACCAAATATCCTACTAGACTGCAATCGAGTTTAACTACAGTCTATAGATAGTGTGAGGAAGGGTTGGGAAGGTGATCAAATGAAGGCTGGAGGCTTGCTTAGGTCAGAAACATTTCTGGAGGATGACTTTGAGCCCTACATGGTCTGTACCCCAGCAGCTGAAGGTTGTTGAGGGGTGGGGAGGGCTGAAAACAGAACGATAAAGCATAGACCTTGTCTCCAAGGAATGCACAATTTATGGAGGGAGCTC
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CTGCCCTTTTGGGAAACTGAGGCTAGAAGGACCAAGGAAGCAGCTGGGGTGGGAAGGGCTCACCTAGAGGCTAAGTGGCTCCCCTGGGAGTTGGGTCCACACTTTGAAGTTGGGTCTGGACTTTGAAGTGCCAAGTTCTAAGAGTCCAGGCTCCTGCCTGGCCCAGTCCAGTAGAGGCAATGTGATTATCCCCATATTAAAGAGAGGTTGGCCGGGTGCAGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAAGCTGAGGCAGGTGGATCACCTGAGGTCAGGAGTTCGAGACCAGCCTGGCCAACATGGTGAAACCCCATCTCTACTGAAAATACAGAATTAGCTGTGTGGTGGTGCACGCCTGTAATCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATCGCTTGAACCCGGGAGGTGGAGGTTGCAGTGAGCTGAGATCATGCCACTGCACTCCAGCCTGGGCGACACAGCAAGACTCTGTCTCAAACAAACAAACAAACAAACAAACAAAGGGGTTAACAGAGCCCCTAAGTCACATAAGTGTGCAAGTCAGAACAAGGCCTTGGTCTCCTGTCTCAGACTCCCAGCCCCTGGAGCATCCTGATTTCAGGGTTCCCACCTAGCCCTTTGCTACCACATCCTCCTCCTCCTCCCAGGTGGTGACTGTGGCGGTGTACAGCTTCTTCCTGACTTGTCTAGTTGGGCGGCAGTTTCTGAACCCAGCCAAGGCCTACCCTGGCCATGAGCTGGACCTCGTTGTGCCCGTCTTCACGTTCCTGCAGTTCTTCTTCTATGTTGGCTGGCTGAAGGTGGGCCTCTCCAGGGCCCTGCTGGGCTGGAGGCATGGCCAGAGGGGTCATGGCCAGCAGCTGCCTGAGACGAGGATGCAGTGTCAGGAAAGGAAGGTCTCACGGGTAGAAAGCAGCCAGGCGTGGTGGCGCACACCTGTAATCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATCGCTTGAACCCGGGAGGCGGAGGTTGTGGTGAGTTGAGATCGTGCCACTGCACTCCAGCCTGGGCAAAAGAATGAAACTCTATCTCAAAAACAACAACAACAACAAAACAAAGCCCTAAGGTTCAGAAGCCCCTGCCCTTTAGAAGGCAGATCGGCACCACCTCTCCTTATTCAAGATGCCTGTTGGGCTGTCTTGTTCCTCACCTCAAGTGGCTTGTCCAGGTATTCCCTCCCACCACAGCCAATACTCCGAACAGATGTTCTGAATCACACAGTTTTCTCTCCACCTCTTTATCTTTCCTTCCTTCTGTTGCCCACCCACTCTCTCTCCCTTCCTACCTTCCTTTATTTTTTGGTAATGGGGGTGTAAGTCTCTGTCTCTGCCCTTCCTGTCACTGTGACACACACACACACACACACACACACACACACATACACACACACACACACGCATTCCTATTCCTCTAAATTCCCCCTGCCCCCCCAGTTATCTTTGGTTTCTGCAGATCAAAACAAATCACACTTTTATGCTTGAAATTCTCCGGGGTGCCCCAGTGGCCTGCAAGATGTCCCCTGGACCCCTAAGGCAGACGCGTGTCACCTCTTCGGGGCTTTGTTAGGGCATTTTAGAGGTTGCTATCCAGGAATCTGCCCACCTAGACTGCCCTTTAGTTCAGCCCAGCTTCAGTATATATCTCTGTTGCATGAATGAATAAAATTATGCAACTCCAGGTAAGATACATGAGGTGAGATAAAGGCAGTGACTCAGCCGAGTGATACACTCAGGGACAGCTGTGGGTGTTCAGGGAAGGACTGGCTCAGAAGAGTTAGAGGGGCTGTGTCCAGAAGTGTGTGGGTGCCCACAAGTGTGGGGGGCTGGAGCCCTAAACTCTGCCTTTGAAGACAGTGGTCAGGCAGGAAGGGCGTCATGGGGTGTGGAAATAGCAGCAGCTGAGGTTTAAAGGGGGAAGCTGGCTTTGAGGAGTTCTGCCTGAGGGTTTACAGAGCCTCACCTGTCCCCAAGGTGGCAGAGCAGCTCATCAACCCCTTTGGAGAGGATAATGATGATTTTGAGACCAACTGGATTGTCGACAGGAATTTGCAGGTATGGGGAGAGGGAGAGAAACCATACCATGGACCTTCCCCAAAGTGGACCCAAAGAGAGGACCCCACTGTTCTGTAGGGAGGCCTCACAGTGAATGATCAACCCTTCCCCTCCTCCCTCCTGCAGCCAGTCATTCACTCACAGGATTCTCACCTCAATCTTTGAGGCTGCAGGCAGGCACCCATCTCCCCATTTCACAGGCAGGGAAACTGAGGTCCAGAGAGAGGGAGAGATTCCTCCAAGTCATCAGGCACATACAAGGTCCTGCCTGGGATGATCTTTCTGTGGGACTTCTTCTGTCCCTGGTGACCAGGTGTCCCTGTTGGCTGTGGATGAGATGCACCAGGACCTGCCTCGGATGGAGCCGGACATGTACTGGAATAAGCCCGAGCCACAGCCCCCCTACACAGCTGCTTCCGCCCAGTTCCGTCGAGCCTCCTTTATGGGCTCCACCTTCAACATCAGGTGTGGCCAGAGCCAGGGGGCTGGGTGGGAAGCCCCTCCTAGTGCAGGGGTCTGCCTAGGAACTTAGAATAGCACTAGTTAATGCATACAGGTTGCTTCAGTAAGTGTCAGGCACTGTACTATGCTCTTTATAAACATTAACTATTTTTTTCCTCCCAATAATTCTGGTTTGTTATCCCAAGTTTTCAGATAATTAAAGTACAGGTTCAGAGAGAGTAAGTTGTCCAAGGCCACATAGCTACCAAATGGTGCATTTGCTACTCGAAGGACAGCCTGTGATCAGTGATGCAGTGGAACGTTAGGACCTGGCTCTTGTCATCCAGAACTATGTTTTCTTTTCTTTTTGAGACAGTATCTCGCTCTGTCGCCCAGGTTGGAGCGCAGTGGCGTGATCTTGGCTCACTGCAACCTCCGCCTCCTGGGTTCAAGTGATTCTCCTGCTTCAGCCTCCCCAGTAGCTGGGATTACAGGTGCCCACAACCACAACTGGCTAATTTTTGTACTTTTAGTAGAGATGAGGTTTCACCATGTTGGCCAGGCTGGTCTCCAACTCCTGACCAGTAATCTGCCCGCTTTGGCCTCCCAAAATGCTGGAATTATAGGTGTCAAAACTATGTTTTCTGATAAGCTACGATGCTTGGATGGGAAGTGGAAGTGGGGTTCCCTGGGATGGGGGAGGGGCAGCAAAGTCCCAGCAGGCAGCCAGGCCATCACAGGTACCTCCTGAATTGACTTTGTCCTACCGAGTAAAGGGCTCAGGCCACCCACAGCAGCCAGACTTATCCCCACATGGTCCCACTTCCCTGATTCCATCTGAATCCCTCTTGAGCTGCAGTGGGCTGAAGGGCTATCCCAGCTGGTCCTTTCTCCCCAGGACAACAGAGTTGAAAGTGCCTTGGAGAGTGTTGGGCACATGTCAGGGTTCATACTCAAGGGTTTCTTCCACGGTATCCAGTGCTGTTCTCGCTTGTTCTTTTCTTTTTTTTTTTTTAAACGGAGTTTCACTCTTGTTGCCCAGAGCTGGAGTGCAGTGGCATAATCTCGGCTCACTGCAACCTCCGCCTCCCAGATTCAAGCAATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTATAGGTGCCAGCCACCAAGCCCGGCTAATTTTTGTATTTTTAGTAGAGACAGTTTCACCATGTTGGCCAGGCTGGTCTCGAACTCCTGACCTCAGGTGATCCACCCTCCTCAGCCTCCCAAAGTGCTGGGATTACATGTGTGAGCCACTGTGCCTGGCTGCTTGTTCTTTTAAGAACCAAATATCCTACTAGACTGCAATCGAGTTTAACTACAGTCTATAGATAGTGTGAGGAAGGGTTGGGAAGGTGATCAAATGAAGGCTGGAGGCTTGCTTAGGTCAGAAACATTTCTGGAGGATGACTTTGAGCCCTACATGGTCTGTACCCCAGCAGCTGAAGGTTGTTGAGGGGTGGGGAGGGCTGAAAACAGAACGATAAAGCATAGACCTTGTCTCCAAGGAATGCACAATTTATGGAGGGAGCTC
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Task1_train_15955
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The variant affects gene BEST1 (bestrophin 1), which is on Chromosome 11. Please evaluate whether this mutation is benign or pathogenic and specify the disease if necessary.
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Pathogenic; Retinal dystrophy
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CTGCCCTTTTGGGAAACTGAGGCTAGAAGGACCAAGGAAGCAGCTGGGGTGGGAAGGGCTCACCTAGAGGCTAAGTGGCTCCCCTGGGAGTTGGGTCCACACTTTGAAGTTGGGTCTGGACTTTGAAGTGCCAAGTTCTAAGAGTCCAGGCTCCTGCCTGGCCCAGTCCAGTAGAGGCAATGTGATTATCCCCATATTAAAGAGAGGTTGGCCGGGTGCAGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAAGCTGAGGCAGGTGGATCACCTGAGGTCAGGAGTTCGAGACCAGCCTGGCCAACATGGTGAAACCCCATCTCTACTGAAAATACAGAATTAGCTGTGTGGTGGTGCACGCCTGTAATCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATCGCTTGAACCCGGGAGGTGGAGGTTGCAGTGAGCTGAGATCATGCCACTGCACTCCAGCCTGGGCGACACAGCAAGACTCTGTCTCAAACAAACAAACAAACAAACAAACAAAGGGGTTAACAGAGCCCCTAAGTCACATAAGTGTGCAAGTCAGAACAAGGCCTTGGTCTCCTGTCTCAGACTCCCAGCCCCTGGAGCATCCTGATTTCAGGGTTCCCACCTAGCCCTTTGCTACCACATCCTCCTCCTCCTCCCAGGTGGTGACTGTGGCGGTGTACAGCTTCTTCCTGACTTGTCTAGTTGGGCGGCAGTTTCTGAACCCAGCCAAGGCCTACCCTGGCCATGAGCTGGACCTCGTTGTGCCCGTCTTCACGTTCCTGCAGTTCTTCTTCTATGTTGGCTGGCTGAAGGTGGGCCTCTCCAGGGCCCTGCTGGGCTGGAGGCATGGCCAGAGGGGTCATGGCCAGCAGCTGCCTGAGACGAGGATGCAGTGTCAGGAAAGGAAGGTCTCACGGGTAGAAAGCAGCCAGGCGTGGTGGCGCACACCTGTAATCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATCGCTTGAACCCGGGAGGCGGAGGTTGTGGTGAGTTGAGATCGTGCCACTGCACTCCAGCCTGGGCAAAAGAATGAAACTCTATCTCAAAAACAACAACAACAACAAAACAAAGCCCTAAGGTTCAGAAGCCCCTGCCCTTTAGAAGGCAGATCGGCACCACCTCTCCTTATTCAAGATGCCTGTTGGGCTGTCTTGTTCCTCACCTCAAGTGGCTTGTCCAGGTATTCCCTCCCACCACAGCCAATACTCCGAACAGATGTTCTGAATCACACAGTTTTCTCTCCACCTCTTTATCTTTCCTTCCTTCTGTTGCCCACCCACTCTCTCTCCCTTCCTACCTTCCTTTATTTTTTGGTAATGGGGGTGTAAGTCTCTGTCTCTGCCCTTCCTGTCACTGTGACACACACACACACACACACACACACACACACATACACACACACACACACGCATTCCTATTCCTCTAAATTCCCCCTGCCCCCCCAGTTATCTTTGGTTTCTGCAGATCAAAACAAATCACACTTTTATGCTTGAAATTCTCCGGGGTGCCCCAGTGGCCTGCAAGATGTCCCCTGGACCCCTAAGGCAGACGCGTGTCACCTCTTCGGGGCTTTGTTAGGGCATTTTAGAGGTTGCTATCCAGGAATCTGCCCACCTAGACTGCCCTTTAGTTCAGCCCAGCTTCAGTATATATCTCTGTTGCATGAATGAATAAAATTATGCAACTCCAGGTAAGATACATGAGGTGAGATAAAGGCAGTGACTCAGCCGAGTGATACACTCAGGGACAGCTGTGGGTGTTCAGGGAAGGACTGGCTCAGAAGAGTTAGAGGGGCTGTGTCCAGAAGTGTGTGGGTGCCCACAAGTGTGGGGGGCTGGAGCCCTAAACTCTGCCTTTGAAGACAGTGGTCAGGCAGGAAGGGCGTCATGGGGTGTGGAAATAGCAGCAGCTGAGGTTTAAAGGGGGAAGCTGGCTTTGAGGAGTTCTGCCTGAGGGTTTACAGAGCCTCACCTGTCCCCAAGGTGGCAGAGCAGCTCATCAACCCCTTTGGAGAGGATGATGATGATTTTGAGACCAACTGGATTGTCGACAGGAATTTGCAGGTATGGGGAGAGGGAGAGAAACCATACCATGGACCTTCCCCAAAGTGGACCCAAAGAGAGGACCCCACTGTTCTGTAGGGAGGCCTCACAGTGAATGATCAACCCTTCCCCTCCTCCCTCCTGCAGCCAGTCATTCACTCACAGGATTCTCACCTCAATCTTTGAGGCTGCAGGCAGGCACCCATCTCCCCATTTCACAGGCAGGGAAACTGAGGTCCAGAGAGAGGGAGAGATTCCTCCAAGTCATCAGGCACATACAAGGTCCTGCCTGGGATGATCTTTCTGTGGGACTTCTTCTGTCCCTGGTGACCAGGTGTCCCTGTTGGCTGTGGATGAGATGCACCAGGACCTGCCTCGGATGGAGCCGGACATGTACTGGAATAAGCCCGAGCCACAGCCCCCCTACACAGCTGCTTCCGCCCAGTTCCGTCGAGCCTCCTTTATGGGCTCCACCTTCAACATCAGGTGTGGCCAGAGCCAGGGGGCTGGGTGGGAAGCCCCTCCTAGTGCAGGGGTCTGCCTAGGAACTTAGAATAGCACTAGTTAATGCATACAGGTTGCTTCAGTAAGTGTCAGGCACTGTACTATGCTCTTTATAAACATTAACTATTTTTTTCCTCCCAATAATTCTGGTTTGTTATCCCAAGTTTTCAGATAATTAAAGTACAGGTTCAGAGAGAGTAAGTTGTCCAAGGCCACATAGCTACCAAATGGTGCATTTGCTACTCGAAGGACAGCCTGTGATCAGTGATGCAGTGGAACGTTAGGACCTGGCTCTTGTCATCCAGAACTATGTTTTCTTTTCTTTTTGAGACAGTATCTCGCTCTGTCGCCCAGGTTGGAGCGCAGTGGCGTGATCTTGGCTCACTGCAACCTCCGCCTCCTGGGTTCAAGTGATTCTCCTGCTTCAGCCTCCCCAGTAGCTGGGATTACAGGTGCCCACAACCACAACTGGCTAATTTTTGTACTTTTAGTAGAGATGAGGTTTCACCATGTTGGCCAGGCTGGTCTCCAACTCCTGACCAGTAATCTGCCCGCTTTGGCCTCCCAAAATGCTGGAATTATAGGTGTCAAAACTATGTTTTCTGATAAGCTACGATGCTTGGATGGGAAGTGGAAGTGGGGTTCCCTGGGATGGGGGAGGGGCAGCAAAGTCCCAGCAGGCAGCCAGGCCATCACAGGTACCTCCTGAATTGACTTTGTCCTACCGAGTAAAGGGCTCAGGCCACCCACAGCAGCCAGACTTATCCCCACATGGTCCCACTTCCCTGATTCCATCTGAATCCCTCTTGAGCTGCAGTGGGCTGAAGGGCTATCCCAGCTGGTCCTTTCTCCCCAGGACAACAGAGTTGAAAGTGCCTTGGAGAGTGTTGGGCACATGTCAGGGTTCATACTCAAGGGTTTCTTCCACGGTATCCAGTGCTGTTCTCGCTTGTTCTTTTCTTTTTTTTTTTTTAAACGGAGTTTCACTCTTGTTGCCCAGAGCTGGAGTGCAGTGGCATAATCTCGGCTCACTGCAACCTCCGCCTCCCAGATTCAAGCAATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTATAGGTGCCAGCCACCAAGCCCGGCTAATTTTTGTATTTTTAGTAGAGACAGTTTCACCATGTTGGCCAGGCTGGTCTCGAACTCCTGACCTCAGGTGATCCACCCTCCTCAGCCTCCCAAAGTGCTGGGATTACATGTGTGAGCCACTGTGCCTGGCTGCTTGTTCTTTTAAGAACCAAATATCCTACTAGACTGCAATCGAGTTTAACTACAGTCTATAGATAGTGTGAGGAAGGGTTGGGAAGGTGATCAAATGAAGGCTGGAGGCTTGCTTAGGTCAGAAACATTTCTGGAGGATGACTTTGAGCCCTACATGGTCTGTACCCCAGCAGCTGAAGGTTGTTGAGGGGTGGGGAGGGCTGAAAACAGAACGATAAAGCATAGACCTTGTCTCCAAGGAATGCACAATTTATGGAGGGAGCTC
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CTGCCCTTTTGGGAAACTGAGGCTAGAAGGACCAAGGAAGCAGCTGGGGTGGGAAGGGCTCACCTAGAGGCTAAGTGGCTCCCCTGGGAGTTGGGTCCACACTTTGAAGTTGGGTCTGGACTTTGAAGTGCCAAGTTCTAAGAGTCCAGGCTCCTGCCTGGCCCAGTCCAGTAGAGGCAATGTGATTATCCCCATATTAAAGAGAGGTTGGCCGGGTGCAGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAAGCTGAGGCAGGTGGATCACCTGAGGTCAGGAGTTCGAGACCAGCCTGGCCAACATGGTGAAACCCCATCTCTACTGAAAATACAGAATTAGCTGTGTGGTGGTGCACGCCTGTAATCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATCGCTTGAACCCGGGAGGTGGAGGTTGCAGTGAGCTGAGATCATGCCACTGCACTCCAGCCTGGGCGACACAGCAAGACTCTGTCTCAAACAAACAAACAAACAAACAAACAAAGGGGTTAACAGAGCCCCTAAGTCACATAAGTGTGCAAGTCAGAACAAGGCCTTGGTCTCCTGTCTCAGACTCCCAGCCCCTGGAGCATCCTGATTTCAGGGTTCCCACCTAGCCCTTTGCTACCACATCCTCCTCCTCCTCCCAGGTGGTGACTGTGGCGGTGTACAGCTTCTTCCTGACTTGTCTAGTTGGGCGGCAGTTTCTGAACCCAGCCAAGGCCTACCCTGGCCATGAGCTGGACCTCGTTGTGCCCGTCTTCACGTTCCTGCAGTTCTTCTTCTATGTTGGCTGGCTGAAGGTGGGCCTCTCCAGGGCCCTGCTGGGCTGGAGGCATGGCCAGAGGGGTCATGGCCAGCAGCTGCCTGAGACGAGGATGCAGTGTCAGGAAAGGAAGGTCTCACGGGTAGAAAGCAGCCAGGCGTGGTGGCGCACACCTGTAATCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATCGCTTGAACCCGGGAGGCGGAGGTTGTGGTGAGTTGAGATCGTGCCACTGCACTCCAGCCTGGGCAAAAGAATGAAACTCTATCTCAAAAACAACAACAACAACAAAACAAAGCCCTAAGGTTCAGAAGCCCCTGCCCTTTAGAAGGCAGATCGGCACCACCTCTCCTTATTCAAGATGCCTGTTGGGCTGTCTTGTTCCTCACCTCAAGTGGCTTGTCCAGGTATTCCCTCCCACCACAGCCAATACTCCGAACAGATGTTCTGAATCACACAGTTTTCTCTCCACCTCTTTATCTTTCCTTCCTTCTGTTGCCCACCCACTCTCTCTCCCTTCCTACCTTCCTTTATTTTTTGGTAATGGGGGTGTAAGTCTCTGTCTCTGCCCTTCCTGTCACTGTGACACACACACACACACACACACACACACACACATACACACACACACACACGCATTCCTATTCCTCTAAATTCCCCCTGCCCCCCCAGTTATCTTTGGTTTCTGCAGATCAAAACAAATCACACTTTTATGCTTGAAATTCTCCGGGGTGCCCCAGTGGCCTGCAAGATGTCCCCTGGACCCCTAAGGCAGACGCGTGTCACCTCTTCGGGGCTTTGTTAGGGCATTTTAGAGGTTGCTATCCAGGAATCTGCCCACCTAGACTGCCCTTTAGTTCAGCCCAGCTTCAGTATATATCTCTGTTGCATGAATGAATAAAATTATGCAACTCCAGGTAAGATACATGAGGTGAGATAAAGGCAGTGACTCAGCCGAGTGATACACTCAGGGACAGCTGTGGGTGTTCAGGGAAGGACTGGCTCAGAAGAGTTAGAGGGGCTGTGTCCAGAAGTGTGTGGGTGCCCACAAGTGTGGGGGGCTGGAGCCCTAAACTCTGCCTTTGAAGACAGTGGTCAGGCAGGAAGGGCGTCATGGGGTGTGGAAATAGCAGCAGCTGAGGTTTAAAGGGGGAAGCTGGCTTTGAGGAGTTCTGCCTGAGGGTTTACAGAGCCTCACCTGTCCCCAAGGTGGCAGAGCAGCTCATCAACCCCTTTGGAGAGGATCATGATGATTTTGAGACCAACTGGATTGTCGACAGGAATTTGCAGGTATGGGGAGAGGGAGAGAAACCATACCATGGACCTTCCCCAAAGTGGACCCAAAGAGAGGACCCCACTGTTCTGTAGGGAGGCCTCACAGTGAATGATCAACCCTTCCCCTCCTCCCTCCTGCAGCCAGTCATTCACTCACAGGATTCTCACCTCAATCTTTGAGGCTGCAGGCAGGCACCCATCTCCCCATTTCACAGGCAGGGAAACTGAGGTCCAGAGAGAGGGAGAGATTCCTCCAAGTCATCAGGCACATACAAGGTCCTGCCTGGGATGATCTTTCTGTGGGACTTCTTCTGTCCCTGGTGACCAGGTGTCCCTGTTGGCTGTGGATGAGATGCACCAGGACCTGCCTCGGATGGAGCCGGACATGTACTGGAATAAGCCCGAGCCACAGCCCCCCTACACAGCTGCTTCCGCCCAGTTCCGTCGAGCCTCCTTTATGGGCTCCACCTTCAACATCAGGTGTGGCCAGAGCCAGGGGGCTGGGTGGGAAGCCCCTCCTAGTGCAGGGGTCTGCCTAGGAACTTAGAATAGCACTAGTTAATGCATACAGGTTGCTTCAGTAAGTGTCAGGCACTGTACTATGCTCTTTATAAACATTAACTATTTTTTTCCTCCCAATAATTCTGGTTTGTTATCCCAAGTTTTCAGATAATTAAAGTACAGGTTCAGAGAGAGTAAGTTGTCCAAGGCCACATAGCTACCAAATGGTGCATTTGCTACTCGAAGGACAGCCTGTGATCAGTGATGCAGTGGAACGTTAGGACCTGGCTCTTGTCATCCAGAACTATGTTTTCTTTTCTTTTTGAGACAGTATCTCGCTCTGTCGCCCAGGTTGGAGCGCAGTGGCGTGATCTTGGCTCACTGCAACCTCCGCCTCCTGGGTTCAAGTGATTCTCCTGCTTCAGCCTCCCCAGTAGCTGGGATTACAGGTGCCCACAACCACAACTGGCTAATTTTTGTACTTTTAGTAGAGATGAGGTTTCACCATGTTGGCCAGGCTGGTCTCCAACTCCTGACCAGTAATCTGCCCGCTTTGGCCTCCCAAAATGCTGGAATTATAGGTGTCAAAACTATGTTTTCTGATAAGCTACGATGCTTGGATGGGAAGTGGAAGTGGGGTTCCCTGGGATGGGGGAGGGGCAGCAAAGTCCCAGCAGGCAGCCAGGCCATCACAGGTACCTCCTGAATTGACTTTGTCCTACCGAGTAAAGGGCTCAGGCCACCCACAGCAGCCAGACTTATCCCCACATGGTCCCACTTCCCTGATTCCATCTGAATCCCTCTTGAGCTGCAGTGGGCTGAAGGGCTATCCCAGCTGGTCCTTTCTCCCCAGGACAACAGAGTTGAAAGTGCCTTGGAGAGTGTTGGGCACATGTCAGGGTTCATACTCAAGGGTTTCTTCCACGGTATCCAGTGCTGTTCTCGCTTGTTCTTTTCTTTTTTTTTTTTTAAACGGAGTTTCACTCTTGTTGCCCAGAGCTGGAGTGCAGTGGCATAATCTCGGCTCACTGCAACCTCCGCCTCCCAGATTCAAGCAATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTATAGGTGCCAGCCACCAAGCCCGGCTAATTTTTGTATTTTTAGTAGAGACAGTTTCACCATGTTGGCCAGGCTGGTCTCGAACTCCTGACCTCAGGTGATCCACCCTCCTCAGCCTCCCAAAGTGCTGGGATTACATGTGTGAGCCACTGTGCCTGGCTGCTTGTTCTTTTAAGAACCAAATATCCTACTAGACTGCAATCGAGTTTAACTACAGTCTATAGATAGTGTGAGGAAGGGTTGGGAAGGTGATCAAATGAAGGCTGGAGGCTTGCTTAGGTCAGAAACATTTCTGGAGGATGACTTTGAGCCCTACATGGTCTGTACCCCAGCAGCTGAAGGTTGTTGAGGGGTGGGGAGGGCTGAAAACAGAACGATAAAGCATAGACCTTGTCTCCAAGGAATGCACAATTTATGGAGGGAGCTC
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Task1_train_15956
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Consider a variant on Chromosome 11 in gene BEST1 (bestrophin 1). Determine its clinical classification and disease relevance.
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Pathogenic; Retinal dystrophy
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TGCCCTTTTGGGAAACTGAGGCTAGAAGGACCAAGGAAGCAGCTGGGGTGGGAAGGGCTCACCTAGAGGCTAAGTGGCTCCCCTGGGAGTTGGGTCCACACTTTGAAGTTGGGTCTGGACTTTGAAGTGCCAAGTTCTAAGAGTCCAGGCTCCTGCCTGGCCCAGTCCAGTAGAGGCAATGTGATTATCCCCATATTAAAGAGAGGTTGGCCGGGTGCAGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAAGCTGAGGCAGGTGGATCACCTGAGGTCAGGAGTTCGAGACCAGCCTGGCCAACATGGTGAAACCCCATCTCTACTGAAAATACAGAATTAGCTGTGTGGTGGTGCACGCCTGTAATCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATCGCTTGAACCCGGGAGGTGGAGGTTGCAGTGAGCTGAGATCATGCCACTGCACTCCAGCCTGGGCGACACAGCAAGACTCTGTCTCAAACAAACAAACAAACAAACAAACAAAGGGGTTAACAGAGCCCCTAAGTCACATAAGTGTGCAAGTCAGAACAAGGCCTTGGTCTCCTGTCTCAGACTCCCAGCCCCTGGAGCATCCTGATTTCAGGGTTCCCACCTAGCCCTTTGCTACCACATCCTCCTCCTCCTCCCAGGTGGTGACTGTGGCGGTGTACAGCTTCTTCCTGACTTGTCTAGTTGGGCGGCAGTTTCTGAACCCAGCCAAGGCCTACCCTGGCCATGAGCTGGACCTCGTTGTGCCCGTCTTCACGTTCCTGCAGTTCTTCTTCTATGTTGGCTGGCTGAAGGTGGGCCTCTCCAGGGCCCTGCTGGGCTGGAGGCATGGCCAGAGGGGTCATGGCCAGCAGCTGCCTGAGACGAGGATGCAGTGTCAGGAAAGGAAGGTCTCACGGGTAGAAAGCAGCCAGGCGTGGTGGCGCACACCTGTAATCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATCGCTTGAACCCGGGAGGCGGAGGTTGTGGTGAGTTGAGATCGTGCCACTGCACTCCAGCCTGGGCAAAAGAATGAAACTCTATCTCAAAAACAACAACAACAACAAAACAAAGCCCTAAGGTTCAGAAGCCCCTGCCCTTTAGAAGGCAGATCGGCACCACCTCTCCTTATTCAAGATGCCTGTTGGGCTGTCTTGTTCCTCACCTCAAGTGGCTTGTCCAGGTATTCCCTCCCACCACAGCCAATACTCCGAACAGATGTTCTGAATCACACAGTTTTCTCTCCACCTCTTTATCTTTCCTTCCTTCTGTTGCCCACCCACTCTCTCTCCCTTCCTACCTTCCTTTATTTTTTGGTAATGGGGGTGTAAGTCTCTGTCTCTGCCCTTCCTGTCACTGTGACACACACACACACACACACACACACACACACATACACACACACACACACGCATTCCTATTCCTCTAAATTCCCCCTGCCCCCCCAGTTATCTTTGGTTTCTGCAGATCAAAACAAATCACACTTTTATGCTTGAAATTCTCCGGGGTGCCCCAGTGGCCTGCAAGATGTCCCCTGGACCCCTAAGGCAGACGCGTGTCACCTCTTCGGGGCTTTGTTAGGGCATTTTAGAGGTTGCTATCCAGGAATCTGCCCACCTAGACTGCCCTTTAGTTCAGCCCAGCTTCAGTATATATCTCTGTTGCATGAATGAATAAAATTATGCAACTCCAGGTAAGATACATGAGGTGAGATAAAGGCAGTGACTCAGCCGAGTGATACACTCAGGGACAGCTGTGGGTGTTCAGGGAAGGACTGGCTCAGAAGAGTTAGAGGGGCTGTGTCCAGAAGTGTGTGGGTGCCCACAAGTGTGGGGGGCTGGAGCCCTAAACTCTGCCTTTGAAGACAGTGGTCAGGCAGGAAGGGCGTCATGGGGTGTGGAAATAGCAGCAGCTGAGGTTTAAAGGGGGAAGCTGGCTTTGAGGAGTTCTGCCTGAGGGTTTACAGAGCCTCACCTGTCCCCAAGGTGGCAGAGCAGCTCATCAACCCCTTTGGAGAGGATGATGATGATTTTGAGACCAACTGGATTGTCGACAGGAATTTGCAGGTATGGGGAGAGGGAGAGAAACCATACCATGGACCTTCCCCAAAGTGGACCCAAAGAGAGGACCCCACTGTTCTGTAGGGAGGCCTCACAGTGAATGATCAACCCTTCCCCTCCTCCCTCCTGCAGCCAGTCATTCACTCACAGGATTCTCACCTCAATCTTTGAGGCTGCAGGCAGGCACCCATCTCCCCATTTCACAGGCAGGGAAACTGAGGTCCAGAGAGAGGGAGAGATTCCTCCAAGTCATCAGGCACATACAAGGTCCTGCCTGGGATGATCTTTCTGTGGGACTTCTTCTGTCCCTGGTGACCAGGTGTCCCTGTTGGCTGTGGATGAGATGCACCAGGACCTGCCTCGGATGGAGCCGGACATGTACTGGAATAAGCCCGAGCCACAGCCCCCCTACACAGCTGCTTCCGCCCAGTTCCGTCGAGCCTCCTTTATGGGCTCCACCTTCAACATCAGGTGTGGCCAGAGCCAGGGGGCTGGGTGGGAAGCCCCTCCTAGTGCAGGGGTCTGCCTAGGAACTTAGAATAGCACTAGTTAATGCATACAGGTTGCTTCAGTAAGTGTCAGGCACTGTACTATGCTCTTTATAAACATTAACTATTTTTTTCCTCCCAATAATTCTGGTTTGTTATCCCAAGTTTTCAGATAATTAAAGTACAGGTTCAGAGAGAGTAAGTTGTCCAAGGCCACATAGCTACCAAATGGTGCATTTGCTACTCGAAGGACAGCCTGTGATCAGTGATGCAGTGGAACGTTAGGACCTGGCTCTTGTCATCCAGAACTATGTTTTCTTTTCTTTTTGAGACAGTATCTCGCTCTGTCGCCCAGGTTGGAGCGCAGTGGCGTGATCTTGGCTCACTGCAACCTCCGCCTCCTGGGTTCAAGTGATTCTCCTGCTTCAGCCTCCCCAGTAGCTGGGATTACAGGTGCCCACAACCACAACTGGCTAATTTTTGTACTTTTAGTAGAGATGAGGTTTCACCATGTTGGCCAGGCTGGTCTCCAACTCCTGACCAGTAATCTGCCCGCTTTGGCCTCCCAAAATGCTGGAATTATAGGTGTCAAAACTATGTTTTCTGATAAGCTACGATGCTTGGATGGGAAGTGGAAGTGGGGTTCCCTGGGATGGGGGAGGGGCAGCAAAGTCCCAGCAGGCAGCCAGGCCATCACAGGTACCTCCTGAATTGACTTTGTCCTACCGAGTAAAGGGCTCAGGCCACCCACAGCAGCCAGACTTATCCCCACATGGTCCCACTTCCCTGATTCCATCTGAATCCCTCTTGAGCTGCAGTGGGCTGAAGGGCTATCCCAGCTGGTCCTTTCTCCCCAGGACAACAGAGTTGAAAGTGCCTTGGAGAGTGTTGGGCACATGTCAGGGTTCATACTCAAGGGTTTCTTCCACGGTATCCAGTGCTGTTCTCGCTTGTTCTTTTCTTTTTTTTTTTTTAAACGGAGTTTCACTCTTGTTGCCCAGAGCTGGAGTGCAGTGGCATAATCTCGGCTCACTGCAACCTCCGCCTCCCAGATTCAAGCAATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTATAGGTGCCAGCCACCAAGCCCGGCTAATTTTTGTATTTTTAGTAGAGACAGTTTCACCATGTTGGCCAGGCTGGTCTCGAACTCCTGACCTCAGGTGATCCACCCTCCTCAGCCTCCCAAAGTGCTGGGATTACATGTGTGAGCCACTGTGCCTGGCTGCTTGTTCTTTTAAGAACCAAATATCCTACTAGACTGCAATCGAGTTTAACTACAGTCTATAGATAGTGTGAGGAAGGGTTGGGAAGGTGATCAAATGAAGGCTGGAGGCTTGCTTAGGTCAGAAACATTTCTGGAGGATGACTTTGAGCCCTACATGGTCTGTACCCCAGCAGCTGAAGGTTGTTGAGGGGTGGGGAGGGCTGAAAACAGAACGATAAAGCATAGACCTTGTCTCCAAGGAATGCACAATTTATGGAGGGAGCTCA
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TGCCCTTTTGGGAAACTGAGGCTAGAAGGACCAAGGAAGCAGCTGGGGTGGGAAGGGCTCACCTAGAGGCTAAGTGGCTCCCCTGGGAGTTGGGTCCACACTTTGAAGTTGGGTCTGGACTTTGAAGTGCCAAGTTCTAAGAGTCCAGGCTCCTGCCTGGCCCAGTCCAGTAGAGGCAATGTGATTATCCCCATATTAAAGAGAGGTTGGCCGGGTGCAGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAAGCTGAGGCAGGTGGATCACCTGAGGTCAGGAGTTCGAGACCAGCCTGGCCAACATGGTGAAACCCCATCTCTACTGAAAATACAGAATTAGCTGTGTGGTGGTGCACGCCTGTAATCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATCGCTTGAACCCGGGAGGTGGAGGTTGCAGTGAGCTGAGATCATGCCACTGCACTCCAGCCTGGGCGACACAGCAAGACTCTGTCTCAAACAAACAAACAAACAAACAAACAAAGGGGTTAACAGAGCCCCTAAGTCACATAAGTGTGCAAGTCAGAACAAGGCCTTGGTCTCCTGTCTCAGACTCCCAGCCCCTGGAGCATCCTGATTTCAGGGTTCCCACCTAGCCCTTTGCTACCACATCCTCCTCCTCCTCCCAGGTGGTGACTGTGGCGGTGTACAGCTTCTTCCTGACTTGTCTAGTTGGGCGGCAGTTTCTGAACCCAGCCAAGGCCTACCCTGGCCATGAGCTGGACCTCGTTGTGCCCGTCTTCACGTTCCTGCAGTTCTTCTTCTATGTTGGCTGGCTGAAGGTGGGCCTCTCCAGGGCCCTGCTGGGCTGGAGGCATGGCCAGAGGGGTCATGGCCAGCAGCTGCCTGAGACGAGGATGCAGTGTCAGGAAAGGAAGGTCTCACGGGTAGAAAGCAGCCAGGCGTGGTGGCGCACACCTGTAATCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATCGCTTGAACCCGGGAGGCGGAGGTTGTGGTGAGTTGAGATCGTGCCACTGCACTCCAGCCTGGGCAAAAGAATGAAACTCTATCTCAAAAACAACAACAACAACAAAACAAAGCCCTAAGGTTCAGAAGCCCCTGCCCTTTAGAAGGCAGATCGGCACCACCTCTCCTTATTCAAGATGCCTGTTGGGCTGTCTTGTTCCTCACCTCAAGTGGCTTGTCCAGGTATTCCCTCCCACCACAGCCAATACTCCGAACAGATGTTCTGAATCACACAGTTTTCTCTCCACCTCTTTATCTTTCCTTCCTTCTGTTGCCCACCCACTCTCTCTCCCTTCCTACCTTCCTTTATTTTTTGGTAATGGGGGTGTAAGTCTCTGTCTCTGCCCTTCCTGTCACTGTGACACACACACACACACACACACACACACACACATACACACACACACACACGCATTCCTATTCCTCTAAATTCCCCCTGCCCCCCCAGTTATCTTTGGTTTCTGCAGATCAAAACAAATCACACTTTTATGCTTGAAATTCTCCGGGGTGCCCCAGTGGCCTGCAAGATGTCCCCTGGACCCCTAAGGCAGACGCGTGTCACCTCTTCGGGGCTTTGTTAGGGCATTTTAGAGGTTGCTATCCAGGAATCTGCCCACCTAGACTGCCCTTTAGTTCAGCCCAGCTTCAGTATATATCTCTGTTGCATGAATGAATAAAATTATGCAACTCCAGGTAAGATACATGAGGTGAGATAAAGGCAGTGACTCAGCCGAGTGATACACTCAGGGACAGCTGTGGGTGTTCAGGGAAGGACTGGCTCAGAAGAGTTAGAGGGGCTGTGTCCAGAAGTGTGTGGGTGCCCACAAGTGTGGGGGGCTGGAGCCCTAAACTCTGCCTTTGAAGACAGTGGTCAGGCAGGAAGGGCGTCATGGGGTGTGGAAATAGCAGCAGCTGAGGTTTAAAGGGGGAAGCTGGCTTTGAGGAGTTCTGCCTGAGGGTTTACAGAGCCTCACCTGTCCCCAAGGTGGCAGAGCAGCTCATCAACCCCTTTGGAGAGGATGCTGATGATTTTGAGACCAACTGGATTGTCGACAGGAATTTGCAGGTATGGGGAGAGGGAGAGAAACCATACCATGGACCTTCCCCAAAGTGGACCCAAAGAGAGGACCCCACTGTTCTGTAGGGAGGCCTCACAGTGAATGATCAACCCTTCCCCTCCTCCCTCCTGCAGCCAGTCATTCACTCACAGGATTCTCACCTCAATCTTTGAGGCTGCAGGCAGGCACCCATCTCCCCATTTCACAGGCAGGGAAACTGAGGTCCAGAGAGAGGGAGAGATTCCTCCAAGTCATCAGGCACATACAAGGTCCTGCCTGGGATGATCTTTCTGTGGGACTTCTTCTGTCCCTGGTGACCAGGTGTCCCTGTTGGCTGTGGATGAGATGCACCAGGACCTGCCTCGGATGGAGCCGGACATGTACTGGAATAAGCCCGAGCCACAGCCCCCCTACACAGCTGCTTCCGCCCAGTTCCGTCGAGCCTCCTTTATGGGCTCCACCTTCAACATCAGGTGTGGCCAGAGCCAGGGGGCTGGGTGGGAAGCCCCTCCTAGTGCAGGGGTCTGCCTAGGAACTTAGAATAGCACTAGTTAATGCATACAGGTTGCTTCAGTAAGTGTCAGGCACTGTACTATGCTCTTTATAAACATTAACTATTTTTTTCCTCCCAATAATTCTGGTTTGTTATCCCAAGTTTTCAGATAATTAAAGTACAGGTTCAGAGAGAGTAAGTTGTCCAAGGCCACATAGCTACCAAATGGTGCATTTGCTACTCGAAGGACAGCCTGTGATCAGTGATGCAGTGGAACGTTAGGACCTGGCTCTTGTCATCCAGAACTATGTTTTCTTTTCTTTTTGAGACAGTATCTCGCTCTGTCGCCCAGGTTGGAGCGCAGTGGCGTGATCTTGGCTCACTGCAACCTCCGCCTCCTGGGTTCAAGTGATTCTCCTGCTTCAGCCTCCCCAGTAGCTGGGATTACAGGTGCCCACAACCACAACTGGCTAATTTTTGTACTTTTAGTAGAGATGAGGTTTCACCATGTTGGCCAGGCTGGTCTCCAACTCCTGACCAGTAATCTGCCCGCTTTGGCCTCCCAAAATGCTGGAATTATAGGTGTCAAAACTATGTTTTCTGATAAGCTACGATGCTTGGATGGGAAGTGGAAGTGGGGTTCCCTGGGATGGGGGAGGGGCAGCAAAGTCCCAGCAGGCAGCCAGGCCATCACAGGTACCTCCTGAATTGACTTTGTCCTACCGAGTAAAGGGCTCAGGCCACCCACAGCAGCCAGACTTATCCCCACATGGTCCCACTTCCCTGATTCCATCTGAATCCCTCTTGAGCTGCAGTGGGCTGAAGGGCTATCCCAGCTGGTCCTTTCTCCCCAGGACAACAGAGTTGAAAGTGCCTTGGAGAGTGTTGGGCACATGTCAGGGTTCATACTCAAGGGTTTCTTCCACGGTATCCAGTGCTGTTCTCGCTTGTTCTTTTCTTTTTTTTTTTTTAAACGGAGTTTCACTCTTGTTGCCCAGAGCTGGAGTGCAGTGGCATAATCTCGGCTCACTGCAACCTCCGCCTCCCAGATTCAAGCAATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTATAGGTGCCAGCCACCAAGCCCGGCTAATTTTTGTATTTTTAGTAGAGACAGTTTCACCATGTTGGCCAGGCTGGTCTCGAACTCCTGACCTCAGGTGATCCACCCTCCTCAGCCTCCCAAAGTGCTGGGATTACATGTGTGAGCCACTGTGCCTGGCTGCTTGTTCTTTTAAGAACCAAATATCCTACTAGACTGCAATCGAGTTTAACTACAGTCTATAGATAGTGTGAGGAAGGGTTGGGAAGGTGATCAAATGAAGGCTGGAGGCTTGCTTAGGTCAGAAACATTTCTGGAGGATGACTTTGAGCCCTACATGGTCTGTACCCCAGCAGCTGAAGGTTGTTGAGGGGTGGGGAGGGCTGAAAACAGAACGATAAAGCATAGACCTTGTCTCCAAGGAATGCACAATTTATGGAGGGAGCTCA
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Task1_train_15957
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This alteration occurs within gene BEST1 (bestrophin 1) located on Chromosome 11. Is it associated with a disease or is it a benign variant?
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Pathogenic; Vitelliform macular dystrophy 2
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CCTTTTGGGAAACTGAGGCTAGAAGGACCAAGGAAGCAGCTGGGGTGGGAAGGGCTCACCTAGAGGCTAAGTGGCTCCCCTGGGAGTTGGGTCCACACTTTGAAGTTGGGTCTGGACTTTGAAGTGCCAAGTTCTAAGAGTCCAGGCTCCTGCCTGGCCCAGTCCAGTAGAGGCAATGTGATTATCCCCATATTAAAGAGAGGTTGGCCGGGTGCAGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAAGCTGAGGCAGGTGGATCACCTGAGGTCAGGAGTTCGAGACCAGCCTGGCCAACATGGTGAAACCCCATCTCTACTGAAAATACAGAATTAGCTGTGTGGTGGTGCACGCCTGTAATCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATCGCTTGAACCCGGGAGGTGGAGGTTGCAGTGAGCTGAGATCATGCCACTGCACTCCAGCCTGGGCGACACAGCAAGACTCTGTCTCAAACAAACAAACAAACAAACAAACAAAGGGGTTAACAGAGCCCCTAAGTCACATAAGTGTGCAAGTCAGAACAAGGCCTTGGTCTCCTGTCTCAGACTCCCAGCCCCTGGAGCATCCTGATTTCAGGGTTCCCACCTAGCCCTTTGCTACCACATCCTCCTCCTCCTCCCAGGTGGTGACTGTGGCGGTGTACAGCTTCTTCCTGACTTGTCTAGTTGGGCGGCAGTTTCTGAACCCAGCCAAGGCCTACCCTGGCCATGAGCTGGACCTCGTTGTGCCCGTCTTCACGTTCCTGCAGTTCTTCTTCTATGTTGGCTGGCTGAAGGTGGGCCTCTCCAGGGCCCTGCTGGGCTGGAGGCATGGCCAGAGGGGTCATGGCCAGCAGCTGCCTGAGACGAGGATGCAGTGTCAGGAAAGGAAGGTCTCACGGGTAGAAAGCAGCCAGGCGTGGTGGCGCACACCTGTAATCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATCGCTTGAACCCGGGAGGCGGAGGTTGTGGTGAGTTGAGATCGTGCCACTGCACTCCAGCCTGGGCAAAAGAATGAAACTCTATCTCAAAAACAACAACAACAACAAAACAAAGCCCTAAGGTTCAGAAGCCCCTGCCCTTTAGAAGGCAGATCGGCACCACCTCTCCTTATTCAAGATGCCTGTTGGGCTGTCTTGTTCCTCACCTCAAGTGGCTTGTCCAGGTATTCCCTCCCACCACAGCCAATACTCCGAACAGATGTTCTGAATCACACAGTTTTCTCTCCACCTCTTTATCTTTCCTTCCTTCTGTTGCCCACCCACTCTCTCTCCCTTCCTACCTTCCTTTATTTTTTGGTAATGGGGGTGTAAGTCTCTGTCTCTGCCCTTCCTGTCACTGTGACACACACACACACACACACACACACACACACATACACACACACACACACGCATTCCTATTCCTCTAAATTCCCCCTGCCCCCCCAGTTATCTTTGGTTTCTGCAGATCAAAACAAATCACACTTTTATGCTTGAAATTCTCCGGGGTGCCCCAGTGGCCTGCAAGATGTCCCCTGGACCCCTAAGGCAGACGCGTGTCACCTCTTCGGGGCTTTGTTAGGGCATTTTAGAGGTTGCTATCCAGGAATCTGCCCACCTAGACTGCCCTTTAGTTCAGCCCAGCTTCAGTATATATCTCTGTTGCATGAATGAATAAAATTATGCAACTCCAGGTAAGATACATGAGGTGAGATAAAGGCAGTGACTCAGCCGAGTGATACACTCAGGGACAGCTGTGGGTGTTCAGGGAAGGACTGGCTCAGAAGAGTTAGAGGGGCTGTGTCCAGAAGTGTGTGGGTGCCCACAAGTGTGGGGGGCTGGAGCCCTAAACTCTGCCTTTGAAGACAGTGGTCAGGCAGGAAGGGCGTCATGGGGTGTGGAAATAGCAGCAGCTGAGGTTTAAAGGGGGAAGCTGGCTTTGAGGAGTTCTGCCTGAGGGTTTACAGAGCCTCACCTGTCCCCAAGGTGGCAGAGCAGCTCATCAACCCCTTTGGAGAGGATGATGATGATTTTGAGACCAACTGGATTGTCGACAGGAATTTGCAGGTATGGGGAGAGGGAGAGAAACCATACCATGGACCTTCCCCAAAGTGGACCCAAAGAGAGGACCCCACTGTTCTGTAGGGAGGCCTCACAGTGAATGATCAACCCTTCCCCTCCTCCCTCCTGCAGCCAGTCATTCACTCACAGGATTCTCACCTCAATCTTTGAGGCTGCAGGCAGGCACCCATCTCCCCATTTCACAGGCAGGGAAACTGAGGTCCAGAGAGAGGGAGAGATTCCTCCAAGTCATCAGGCACATACAAGGTCCTGCCTGGGATGATCTTTCTGTGGGACTTCTTCTGTCCCTGGTGACCAGGTGTCCCTGTTGGCTGTGGATGAGATGCACCAGGACCTGCCTCGGATGGAGCCGGACATGTACTGGAATAAGCCCGAGCCACAGCCCCCCTACACAGCTGCTTCCGCCCAGTTCCGTCGAGCCTCCTTTATGGGCTCCACCTTCAACATCAGGTGTGGCCAGAGCCAGGGGGCTGGGTGGGAAGCCCCTCCTAGTGCAGGGGTCTGCCTAGGAACTTAGAATAGCACTAGTTAATGCATACAGGTTGCTTCAGTAAGTGTCAGGCACTGTACTATGCTCTTTATAAACATTAACTATTTTTTTCCTCCCAATAATTCTGGTTTGTTATCCCAAGTTTTCAGATAATTAAAGTACAGGTTCAGAGAGAGTAAGTTGTCCAAGGCCACATAGCTACCAAATGGTGCATTTGCTACTCGAAGGACAGCCTGTGATCAGTGATGCAGTGGAACGTTAGGACCTGGCTCTTGTCATCCAGAACTATGTTTTCTTTTCTTTTTGAGACAGTATCTCGCTCTGTCGCCCAGGTTGGAGCGCAGTGGCGTGATCTTGGCTCACTGCAACCTCCGCCTCCTGGGTTCAAGTGATTCTCCTGCTTCAGCCTCCCCAGTAGCTGGGATTACAGGTGCCCACAACCACAACTGGCTAATTTTTGTACTTTTAGTAGAGATGAGGTTTCACCATGTTGGCCAGGCTGGTCTCCAACTCCTGACCAGTAATCTGCCCGCTTTGGCCTCCCAAAATGCTGGAATTATAGGTGTCAAAACTATGTTTTCTGATAAGCTACGATGCTTGGATGGGAAGTGGAAGTGGGGTTCCCTGGGATGGGGGAGGGGCAGCAAAGTCCCAGCAGGCAGCCAGGCCATCACAGGTACCTCCTGAATTGACTTTGTCCTACCGAGTAAAGGGCTCAGGCCACCCACAGCAGCCAGACTTATCCCCACATGGTCCCACTTCCCTGATTCCATCTGAATCCCTCTTGAGCTGCAGTGGGCTGAAGGGCTATCCCAGCTGGTCCTTTCTCCCCAGGACAACAGAGTTGAAAGTGCCTTGGAGAGTGTTGGGCACATGTCAGGGTTCATACTCAAGGGTTTCTTCCACGGTATCCAGTGCTGTTCTCGCTTGTTCTTTTCTTTTTTTTTTTTTAAACGGAGTTTCACTCTTGTTGCCCAGAGCTGGAGTGCAGTGGCATAATCTCGGCTCACTGCAACCTCCGCCTCCCAGATTCAAGCAATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTATAGGTGCCAGCCACCAAGCCCGGCTAATTTTTGTATTTTTAGTAGAGACAGTTTCACCATGTTGGCCAGGCTGGTCTCGAACTCCTGACCTCAGGTGATCCACCCTCCTCAGCCTCCCAAAGTGCTGGGATTACATGTGTGAGCCACTGTGCCTGGCTGCTTGTTCTTTTAAGAACCAAATATCCTACTAGACTGCAATCGAGTTTAACTACAGTCTATAGATAGTGTGAGGAAGGGTTGGGAAGGTGATCAAATGAAGGCTGGAGGCTTGCTTAGGTCAGAAACATTTCTGGAGGATGACTTTGAGCCCTACATGGTCTGTACCCCAGCAGCTGAAGGTTGTTGAGGGGTGGGGAGGGCTGAAAACAGAACGATAAAGCATAGACCTTGTCTCCAAGGAATGCACAATTTATGGAGGGAGCTCAAAC
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CCTTTTGGGAAACTGAGGCTAGAAGGACCAAGGAAGCAGCTGGGGTGGGAAGGGCTCACCTAGAGGCTAAGTGGCTCCCCTGGGAGTTGGGTCCACACTTTGAAGTTGGGTCTGGACTTTGAAGTGCCAAGTTCTAAGAGTCCAGGCTCCTGCCTGGCCCAGTCCAGTAGAGGCAATGTGATTATCCCCATATTAAAGAGAGGTTGGCCGGGTGCAGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAAGCTGAGGCAGGTGGATCACCTGAGGTCAGGAGTTCGAGACCAGCCTGGCCAACATGGTGAAACCCCATCTCTACTGAAAATACAGAATTAGCTGTGTGGTGGTGCACGCCTGTAATCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATCGCTTGAACCCGGGAGGTGGAGGTTGCAGTGAGCTGAGATCATGCCACTGCACTCCAGCCTGGGCGACACAGCAAGACTCTGTCTCAAACAAACAAACAAACAAACAAACAAAGGGGTTAACAGAGCCCCTAAGTCACATAAGTGTGCAAGTCAGAACAAGGCCTTGGTCTCCTGTCTCAGACTCCCAGCCCCTGGAGCATCCTGATTTCAGGGTTCCCACCTAGCCCTTTGCTACCACATCCTCCTCCTCCTCCCAGGTGGTGACTGTGGCGGTGTACAGCTTCTTCCTGACTTGTCTAGTTGGGCGGCAGTTTCTGAACCCAGCCAAGGCCTACCCTGGCCATGAGCTGGACCTCGTTGTGCCCGTCTTCACGTTCCTGCAGTTCTTCTTCTATGTTGGCTGGCTGAAGGTGGGCCTCTCCAGGGCCCTGCTGGGCTGGAGGCATGGCCAGAGGGGTCATGGCCAGCAGCTGCCTGAGACGAGGATGCAGTGTCAGGAAAGGAAGGTCTCACGGGTAGAAAGCAGCCAGGCGTGGTGGCGCACACCTGTAATCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATCGCTTGAACCCGGGAGGCGGAGGTTGTGGTGAGTTGAGATCGTGCCACTGCACTCCAGCCTGGGCAAAAGAATGAAACTCTATCTCAAAAACAACAACAACAACAAAACAAAGCCCTAAGGTTCAGAAGCCCCTGCCCTTTAGAAGGCAGATCGGCACCACCTCTCCTTATTCAAGATGCCTGTTGGGCTGTCTTGTTCCTCACCTCAAGTGGCTTGTCCAGGTATTCCCTCCCACCACAGCCAATACTCCGAACAGATGTTCTGAATCACACAGTTTTCTCTCCACCTCTTTATCTTTCCTTCCTTCTGTTGCCCACCCACTCTCTCTCCCTTCCTACCTTCCTTTATTTTTTGGTAATGGGGGTGTAAGTCTCTGTCTCTGCCCTTCCTGTCACTGTGACACACACACACACACACACACACACACACACATACACACACACACACACGCATTCCTATTCCTCTAAATTCCCCCTGCCCCCCCAGTTATCTTTGGTTTCTGCAGATCAAAACAAATCACACTTTTATGCTTGAAATTCTCCGGGGTGCCCCAGTGGCCTGCAAGATGTCCCCTGGACCCCTAAGGCAGACGCGTGTCACCTCTTCGGGGCTTTGTTAGGGCATTTTAGAGGTTGCTATCCAGGAATCTGCCCACCTAGACTGCCCTTTAGTTCAGCCCAGCTTCAGTATATATCTCTGTTGCATGAATGAATAAAATTATGCAACTCCAGGTAAGATACATGAGGTGAGATAAAGGCAGTGACTCAGCCGAGTGATACACTCAGGGACAGCTGTGGGTGTTCAGGGAAGGACTGGCTCAGAAGAGTTAGAGGGGCTGTGTCCAGAAGTGTGTGGGTGCCCACAAGTGTGGGGGGCTGGAGCCCTAAACTCTGCCTTTGAAGACAGTGGTCAGGCAGGAAGGGCGTCATGGGGTGTGGAAATAGCAGCAGCTGAGGTTTAAAGGGGGAAGCTGGCTTTGAGGAGTTCTGCCTGAGGGTTTACAGAGCCTCACCTGTCCCCAAGGTGGCAGAGCAGCTCATCAACCCCTTTGGAGAGGATGATGTTGATTTTGAGACCAACTGGATTGTCGACAGGAATTTGCAGGTATGGGGAGAGGGAGAGAAACCATACCATGGACCTTCCCCAAAGTGGACCCAAAGAGAGGACCCCACTGTTCTGTAGGGAGGCCTCACAGTGAATGATCAACCCTTCCCCTCCTCCCTCCTGCAGCCAGTCATTCACTCACAGGATTCTCACCTCAATCTTTGAGGCTGCAGGCAGGCACCCATCTCCCCATTTCACAGGCAGGGAAACTGAGGTCCAGAGAGAGGGAGAGATTCCTCCAAGTCATCAGGCACATACAAGGTCCTGCCTGGGATGATCTTTCTGTGGGACTTCTTCTGTCCCTGGTGACCAGGTGTCCCTGTTGGCTGTGGATGAGATGCACCAGGACCTGCCTCGGATGGAGCCGGACATGTACTGGAATAAGCCCGAGCCACAGCCCCCCTACACAGCTGCTTCCGCCCAGTTCCGTCGAGCCTCCTTTATGGGCTCCACCTTCAACATCAGGTGTGGCCAGAGCCAGGGGGCTGGGTGGGAAGCCCCTCCTAGTGCAGGGGTCTGCCTAGGAACTTAGAATAGCACTAGTTAATGCATACAGGTTGCTTCAGTAAGTGTCAGGCACTGTACTATGCTCTTTATAAACATTAACTATTTTTTTCCTCCCAATAATTCTGGTTTGTTATCCCAAGTTTTCAGATAATTAAAGTACAGGTTCAGAGAGAGTAAGTTGTCCAAGGCCACATAGCTACCAAATGGTGCATTTGCTACTCGAAGGACAGCCTGTGATCAGTGATGCAGTGGAACGTTAGGACCTGGCTCTTGTCATCCAGAACTATGTTTTCTTTTCTTTTTGAGACAGTATCTCGCTCTGTCGCCCAGGTTGGAGCGCAGTGGCGTGATCTTGGCTCACTGCAACCTCCGCCTCCTGGGTTCAAGTGATTCTCCTGCTTCAGCCTCCCCAGTAGCTGGGATTACAGGTGCCCACAACCACAACTGGCTAATTTTTGTACTTTTAGTAGAGATGAGGTTTCACCATGTTGGCCAGGCTGGTCTCCAACTCCTGACCAGTAATCTGCCCGCTTTGGCCTCCCAAAATGCTGGAATTATAGGTGTCAAAACTATGTTTTCTGATAAGCTACGATGCTTGGATGGGAAGTGGAAGTGGGGTTCCCTGGGATGGGGGAGGGGCAGCAAAGTCCCAGCAGGCAGCCAGGCCATCACAGGTACCTCCTGAATTGACTTTGTCCTACCGAGTAAAGGGCTCAGGCCACCCACAGCAGCCAGACTTATCCCCACATGGTCCCACTTCCCTGATTCCATCTGAATCCCTCTTGAGCTGCAGTGGGCTGAAGGGCTATCCCAGCTGGTCCTTTCTCCCCAGGACAACAGAGTTGAAAGTGCCTTGGAGAGTGTTGGGCACATGTCAGGGTTCATACTCAAGGGTTTCTTCCACGGTATCCAGTGCTGTTCTCGCTTGTTCTTTTCTTTTTTTTTTTTTAAACGGAGTTTCACTCTTGTTGCCCAGAGCTGGAGTGCAGTGGCATAATCTCGGCTCACTGCAACCTCCGCCTCCCAGATTCAAGCAATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTATAGGTGCCAGCCACCAAGCCCGGCTAATTTTTGTATTTTTAGTAGAGACAGTTTCACCATGTTGGCCAGGCTGGTCTCGAACTCCTGACCTCAGGTGATCCACCCTCCTCAGCCTCCCAAAGTGCTGGGATTACATGTGTGAGCCACTGTGCCTGGCTGCTTGTTCTTTTAAGAACCAAATATCCTACTAGACTGCAATCGAGTTTAACTACAGTCTATAGATAGTGTGAGGAAGGGTTGGGAAGGTGATCAAATGAAGGCTGGAGGCTTGCTTAGGTCAGAAACATTTCTGGAGGATGACTTTGAGCCCTACATGGTCTGTACCCCAGCAGCTGAAGGTTGTTGAGGGGTGGGGAGGGCTGAAAACAGAACGATAAAGCATAGACCTTGTCTCCAAGGAATGCACAATTTATGGAGGGAGCTCAAAC
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Task1_train_15958
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This variant affects gene BEST1 (bestrophin 1) located on Chromosome 11. Evaluate its biological effect and specify any disease association.
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Pathogenic; not provided
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CTTTTGGGAAACTGAGGCTAGAAGGACCAAGGAAGCAGCTGGGGTGGGAAGGGCTCACCTAGAGGCTAAGTGGCTCCCCTGGGAGTTGGGTCCACACTTTGAAGTTGGGTCTGGACTTTGAAGTGCCAAGTTCTAAGAGTCCAGGCTCCTGCCTGGCCCAGTCCAGTAGAGGCAATGTGATTATCCCCATATTAAAGAGAGGTTGGCCGGGTGCAGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAAGCTGAGGCAGGTGGATCACCTGAGGTCAGGAGTTCGAGACCAGCCTGGCCAACATGGTGAAACCCCATCTCTACTGAAAATACAGAATTAGCTGTGTGGTGGTGCACGCCTGTAATCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATCGCTTGAACCCGGGAGGTGGAGGTTGCAGTGAGCTGAGATCATGCCACTGCACTCCAGCCTGGGCGACACAGCAAGACTCTGTCTCAAACAAACAAACAAACAAACAAACAAAGGGGTTAACAGAGCCCCTAAGTCACATAAGTGTGCAAGTCAGAACAAGGCCTTGGTCTCCTGTCTCAGACTCCCAGCCCCTGGAGCATCCTGATTTCAGGGTTCCCACCTAGCCCTTTGCTACCACATCCTCCTCCTCCTCCCAGGTGGTGACTGTGGCGGTGTACAGCTTCTTCCTGACTTGTCTAGTTGGGCGGCAGTTTCTGAACCCAGCCAAGGCCTACCCTGGCCATGAGCTGGACCTCGTTGTGCCCGTCTTCACGTTCCTGCAGTTCTTCTTCTATGTTGGCTGGCTGAAGGTGGGCCTCTCCAGGGCCCTGCTGGGCTGGAGGCATGGCCAGAGGGGTCATGGCCAGCAGCTGCCTGAGACGAGGATGCAGTGTCAGGAAAGGAAGGTCTCACGGGTAGAAAGCAGCCAGGCGTGGTGGCGCACACCTGTAATCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATCGCTTGAACCCGGGAGGCGGAGGTTGTGGTGAGTTGAGATCGTGCCACTGCACTCCAGCCTGGGCAAAAGAATGAAACTCTATCTCAAAAACAACAACAACAACAAAACAAAGCCCTAAGGTTCAGAAGCCCCTGCCCTTTAGAAGGCAGATCGGCACCACCTCTCCTTATTCAAGATGCCTGTTGGGCTGTCTTGTTCCTCACCTCAAGTGGCTTGTCCAGGTATTCCCTCCCACCACAGCCAATACTCCGAACAGATGTTCTGAATCACACAGTTTTCTCTCCACCTCTTTATCTTTCCTTCCTTCTGTTGCCCACCCACTCTCTCTCCCTTCCTACCTTCCTTTATTTTTTGGTAATGGGGGTGTAAGTCTCTGTCTCTGCCCTTCCTGTCACTGTGACACACACACACACACACACACACACACACACATACACACACACACACACGCATTCCTATTCCTCTAAATTCCCCCTGCCCCCCCAGTTATCTTTGGTTTCTGCAGATCAAAACAAATCACACTTTTATGCTTGAAATTCTCCGGGGTGCCCCAGTGGCCTGCAAGATGTCCCCTGGACCCCTAAGGCAGACGCGTGTCACCTCTTCGGGGCTTTGTTAGGGCATTTTAGAGGTTGCTATCCAGGAATCTGCCCACCTAGACTGCCCTTTAGTTCAGCCCAGCTTCAGTATATATCTCTGTTGCATGAATGAATAAAATTATGCAACTCCAGGTAAGATACATGAGGTGAGATAAAGGCAGTGACTCAGCCGAGTGATACACTCAGGGACAGCTGTGGGTGTTCAGGGAAGGACTGGCTCAGAAGAGTTAGAGGGGCTGTGTCCAGAAGTGTGTGGGTGCCCACAAGTGTGGGGGGCTGGAGCCCTAAACTCTGCCTTTGAAGACAGTGGTCAGGCAGGAAGGGCGTCATGGGGTGTGGAAATAGCAGCAGCTGAGGTTTAAAGGGGGAAGCTGGCTTTGAGGAGTTCTGCCTGAGGGTTTACAGAGCCTCACCTGTCCCCAAGGTGGCAGAGCAGCTCATCAACCCCTTTGGAGAGGATGATGATGATTTTGAGACCAACTGGATTGTCGACAGGAATTTGCAGGTATGGGGAGAGGGAGAGAAACCATACCATGGACCTTCCCCAAAGTGGACCCAAAGAGAGGACCCCACTGTTCTGTAGGGAGGCCTCACAGTGAATGATCAACCCTTCCCCTCCTCCCTCCTGCAGCCAGTCATTCACTCACAGGATTCTCACCTCAATCTTTGAGGCTGCAGGCAGGCACCCATCTCCCCATTTCACAGGCAGGGAAACTGAGGTCCAGAGAGAGGGAGAGATTCCTCCAAGTCATCAGGCACATACAAGGTCCTGCCTGGGATGATCTTTCTGTGGGACTTCTTCTGTCCCTGGTGACCAGGTGTCCCTGTTGGCTGTGGATGAGATGCACCAGGACCTGCCTCGGATGGAGCCGGACATGTACTGGAATAAGCCCGAGCCACAGCCCCCCTACACAGCTGCTTCCGCCCAGTTCCGTCGAGCCTCCTTTATGGGCTCCACCTTCAACATCAGGTGTGGCCAGAGCCAGGGGGCTGGGTGGGAAGCCCCTCCTAGTGCAGGGGTCTGCCTAGGAACTTAGAATAGCACTAGTTAATGCATACAGGTTGCTTCAGTAAGTGTCAGGCACTGTACTATGCTCTTTATAAACATTAACTATTTTTTTCCTCCCAATAATTCTGGTTTGTTATCCCAAGTTTTCAGATAATTAAAGTACAGGTTCAGAGAGAGTAAGTTGTCCAAGGCCACATAGCTACCAAATGGTGCATTTGCTACTCGAAGGACAGCCTGTGATCAGTGATGCAGTGGAACGTTAGGACCTGGCTCTTGTCATCCAGAACTATGTTTTCTTTTCTTTTTGAGACAGTATCTCGCTCTGTCGCCCAGGTTGGAGCGCAGTGGCGTGATCTTGGCTCACTGCAACCTCCGCCTCCTGGGTTCAAGTGATTCTCCTGCTTCAGCCTCCCCAGTAGCTGGGATTACAGGTGCCCACAACCACAACTGGCTAATTTTTGTACTTTTAGTAGAGATGAGGTTTCACCATGTTGGCCAGGCTGGTCTCCAACTCCTGACCAGTAATCTGCCCGCTTTGGCCTCCCAAAATGCTGGAATTATAGGTGTCAAAACTATGTTTTCTGATAAGCTACGATGCTTGGATGGGAAGTGGAAGTGGGGTTCCCTGGGATGGGGGAGGGGCAGCAAAGTCCCAGCAGGCAGCCAGGCCATCACAGGTACCTCCTGAATTGACTTTGTCCTACCGAGTAAAGGGCTCAGGCCACCCACAGCAGCCAGACTTATCCCCACATGGTCCCACTTCCCTGATTCCATCTGAATCCCTCTTGAGCTGCAGTGGGCTGAAGGGCTATCCCAGCTGGTCCTTTCTCCCCAGGACAACAGAGTTGAAAGTGCCTTGGAGAGTGTTGGGCACATGTCAGGGTTCATACTCAAGGGTTTCTTCCACGGTATCCAGTGCTGTTCTCGCTTGTTCTTTTCTTTTTTTTTTTTTAAACGGAGTTTCACTCTTGTTGCCCAGAGCTGGAGTGCAGTGGCATAATCTCGGCTCACTGCAACCTCCGCCTCCCAGATTCAAGCAATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTATAGGTGCCAGCCACCAAGCCCGGCTAATTTTTGTATTTTTAGTAGAGACAGTTTCACCATGTTGGCCAGGCTGGTCTCGAACTCCTGACCTCAGGTGATCCACCCTCCTCAGCCTCCCAAAGTGCTGGGATTACATGTGTGAGCCACTGTGCCTGGCTGCTTGTTCTTTTAAGAACCAAATATCCTACTAGACTGCAATCGAGTTTAACTACAGTCTATAGATAGTGTGAGGAAGGGTTGGGAAGGTGATCAAATGAAGGCTGGAGGCTTGCTTAGGTCAGAAACATTTCTGGAGGATGACTTTGAGCCCTACATGGTCTGTACCCCAGCAGCTGAAGGTTGTTGAGGGGTGGGGAGGGCTGAAAACAGAACGATAAAGCATAGACCTTGTCTCCAAGGAATGCACAATTTATGGAGGGAGCTCAAACC
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CTTTTGGGAAACTGAGGCTAGAAGGACCAAGGAAGCAGCTGGGGTGGGAAGGGCTCACCTAGAGGCTAAGTGGCTCCCCTGGGAGTTGGGTCCACACTTTGAAGTTGGGTCTGGACTTTGAAGTGCCAAGTTCTAAGAGTCCAGGCTCCTGCCTGGCCCAGTCCAGTAGAGGCAATGTGATTATCCCCATATTAAAGAGAGGTTGGCCGGGTGCAGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAAGCTGAGGCAGGTGGATCACCTGAGGTCAGGAGTTCGAGACCAGCCTGGCCAACATGGTGAAACCCCATCTCTACTGAAAATACAGAATTAGCTGTGTGGTGGTGCACGCCTGTAATCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATCGCTTGAACCCGGGAGGTGGAGGTTGCAGTGAGCTGAGATCATGCCACTGCACTCCAGCCTGGGCGACACAGCAAGACTCTGTCTCAAACAAACAAACAAACAAACAAACAAAGGGGTTAACAGAGCCCCTAAGTCACATAAGTGTGCAAGTCAGAACAAGGCCTTGGTCTCCTGTCTCAGACTCCCAGCCCCTGGAGCATCCTGATTTCAGGGTTCCCACCTAGCCCTTTGCTACCACATCCTCCTCCTCCTCCCAGGTGGTGACTGTGGCGGTGTACAGCTTCTTCCTGACTTGTCTAGTTGGGCGGCAGTTTCTGAACCCAGCCAAGGCCTACCCTGGCCATGAGCTGGACCTCGTTGTGCCCGTCTTCACGTTCCTGCAGTTCTTCTTCTATGTTGGCTGGCTGAAGGTGGGCCTCTCCAGGGCCCTGCTGGGCTGGAGGCATGGCCAGAGGGGTCATGGCCAGCAGCTGCCTGAGACGAGGATGCAGTGTCAGGAAAGGAAGGTCTCACGGGTAGAAAGCAGCCAGGCGTGGTGGCGCACACCTGTAATCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATCGCTTGAACCCGGGAGGCGGAGGTTGTGGTGAGTTGAGATCGTGCCACTGCACTCCAGCCTGGGCAAAAGAATGAAACTCTATCTCAAAAACAACAACAACAACAAAACAAAGCCCTAAGGTTCAGAAGCCCCTGCCCTTTAGAAGGCAGATCGGCACCACCTCTCCTTATTCAAGATGCCTGTTGGGCTGTCTTGTTCCTCACCTCAAGTGGCTTGTCCAGGTATTCCCTCCCACCACAGCCAATACTCCGAACAGATGTTCTGAATCACACAGTTTTCTCTCCACCTCTTTATCTTTCCTTCCTTCTGTTGCCCACCCACTCTCTCTCCCTTCCTACCTTCCTTTATTTTTTGGTAATGGGGGTGTAAGTCTCTGTCTCTGCCCTTCCTGTCACTGTGACACACACACACACACACACACACACACACACATACACACACACACACACGCATTCCTATTCCTCTAAATTCCCCCTGCCCCCCCAGTTATCTTTGGTTTCTGCAGATCAAAACAAATCACACTTTTATGCTTGAAATTCTCCGGGGTGCCCCAGTGGCCTGCAAGATGTCCCCTGGACCCCTAAGGCAGACGCGTGTCACCTCTTCGGGGCTTTGTTAGGGCATTTTAGAGGTTGCTATCCAGGAATCTGCCCACCTAGACTGCCCTTTAGTTCAGCCCAGCTTCAGTATATATCTCTGTTGCATGAATGAATAAAATTATGCAACTCCAGGTAAGATACATGAGGTGAGATAAAGGCAGTGACTCAGCCGAGTGATACACTCAGGGACAGCTGTGGGTGTTCAGGGAAGGACTGGCTCAGAAGAGTTAGAGGGGCTGTGTCCAGAAGTGTGTGGGTGCCCACAAGTGTGGGGGGCTGGAGCCCTAAACTCTGCCTTTGAAGACAGTGGTCAGGCAGGAAGGGCGTCATGGGGTGTGGAAATAGCAGCAGCTGAGGTTTAAAGGGGGAAGCTGGCTTTGAGGAGTTCTGCCTGAGGGTTTACAGAGCCTCACCTGTCCCCAAGGTGGCAGAGCAGCTCATCAACCCCTTTGGAGAGGATGATGAAGATTTTGAGACCAACTGGATTGTCGACAGGAATTTGCAGGTATGGGGAGAGGGAGAGAAACCATACCATGGACCTTCCCCAAAGTGGACCCAAAGAGAGGACCCCACTGTTCTGTAGGGAGGCCTCACAGTGAATGATCAACCCTTCCCCTCCTCCCTCCTGCAGCCAGTCATTCACTCACAGGATTCTCACCTCAATCTTTGAGGCTGCAGGCAGGCACCCATCTCCCCATTTCACAGGCAGGGAAACTGAGGTCCAGAGAGAGGGAGAGATTCCTCCAAGTCATCAGGCACATACAAGGTCCTGCCTGGGATGATCTTTCTGTGGGACTTCTTCTGTCCCTGGTGACCAGGTGTCCCTGTTGGCTGTGGATGAGATGCACCAGGACCTGCCTCGGATGGAGCCGGACATGTACTGGAATAAGCCCGAGCCACAGCCCCCCTACACAGCTGCTTCCGCCCAGTTCCGTCGAGCCTCCTTTATGGGCTCCACCTTCAACATCAGGTGTGGCCAGAGCCAGGGGGCTGGGTGGGAAGCCCCTCCTAGTGCAGGGGTCTGCCTAGGAACTTAGAATAGCACTAGTTAATGCATACAGGTTGCTTCAGTAAGTGTCAGGCACTGTACTATGCTCTTTATAAACATTAACTATTTTTTTCCTCCCAATAATTCTGGTTTGTTATCCCAAGTTTTCAGATAATTAAAGTACAGGTTCAGAGAGAGTAAGTTGTCCAAGGCCACATAGCTACCAAATGGTGCATTTGCTACTCGAAGGACAGCCTGTGATCAGTGATGCAGTGGAACGTTAGGACCTGGCTCTTGTCATCCAGAACTATGTTTTCTTTTCTTTTTGAGACAGTATCTCGCTCTGTCGCCCAGGTTGGAGCGCAGTGGCGTGATCTTGGCTCACTGCAACCTCCGCCTCCTGGGTTCAAGTGATTCTCCTGCTTCAGCCTCCCCAGTAGCTGGGATTACAGGTGCCCACAACCACAACTGGCTAATTTTTGTACTTTTAGTAGAGATGAGGTTTCACCATGTTGGCCAGGCTGGTCTCCAACTCCTGACCAGTAATCTGCCCGCTTTGGCCTCCCAAAATGCTGGAATTATAGGTGTCAAAACTATGTTTTCTGATAAGCTACGATGCTTGGATGGGAAGTGGAAGTGGGGTTCCCTGGGATGGGGGAGGGGCAGCAAAGTCCCAGCAGGCAGCCAGGCCATCACAGGTACCTCCTGAATTGACTTTGTCCTACCGAGTAAAGGGCTCAGGCCACCCACAGCAGCCAGACTTATCCCCACATGGTCCCACTTCCCTGATTCCATCTGAATCCCTCTTGAGCTGCAGTGGGCTGAAGGGCTATCCCAGCTGGTCCTTTCTCCCCAGGACAACAGAGTTGAAAGTGCCTTGGAGAGTGTTGGGCACATGTCAGGGTTCATACTCAAGGGTTTCTTCCACGGTATCCAGTGCTGTTCTCGCTTGTTCTTTTCTTTTTTTTTTTTTAAACGGAGTTTCACTCTTGTTGCCCAGAGCTGGAGTGCAGTGGCATAATCTCGGCTCACTGCAACCTCCGCCTCCCAGATTCAAGCAATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTATAGGTGCCAGCCACCAAGCCCGGCTAATTTTTGTATTTTTAGTAGAGACAGTTTCACCATGTTGGCCAGGCTGGTCTCGAACTCCTGACCTCAGGTGATCCACCCTCCTCAGCCTCCCAAAGTGCTGGGATTACATGTGTGAGCCACTGTGCCTGGCTGCTTGTTCTTTTAAGAACCAAATATCCTACTAGACTGCAATCGAGTTTAACTACAGTCTATAGATAGTGTGAGGAAGGGTTGGGAAGGTGATCAAATGAAGGCTGGAGGCTTGCTTAGGTCAGAAACATTTCTGGAGGATGACTTTGAGCCCTACATGGTCTGTACCCCAGCAGCTGAAGGTTGTTGAGGGGTGGGGAGGGCTGAAAACAGAACGATAAAGCATAGACCTTGTCTCCAAGGAATGCACAATTTATGGAGGGAGCTCAAACC
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Task1_train_15959
|
A mutation on Chromosome 11 affecting BEST1 (bestrophin 1) has been found. Is it harmful or harmless? What disease, if any, does it cause?
|
Pathogenic; Vitelliform macular dystrophy 2
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TTTTGGGAAACTGAGGCTAGAAGGACCAAGGAAGCAGCTGGGGTGGGAAGGGCTCACCTAGAGGCTAAGTGGCTCCCCTGGGAGTTGGGTCCACACTTTGAAGTTGGGTCTGGACTTTGAAGTGCCAAGTTCTAAGAGTCCAGGCTCCTGCCTGGCCCAGTCCAGTAGAGGCAATGTGATTATCCCCATATTAAAGAGAGGTTGGCCGGGTGCAGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAAGCTGAGGCAGGTGGATCACCTGAGGTCAGGAGTTCGAGACCAGCCTGGCCAACATGGTGAAACCCCATCTCTACTGAAAATACAGAATTAGCTGTGTGGTGGTGCACGCCTGTAATCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATCGCTTGAACCCGGGAGGTGGAGGTTGCAGTGAGCTGAGATCATGCCACTGCACTCCAGCCTGGGCGACACAGCAAGACTCTGTCTCAAACAAACAAACAAACAAACAAACAAAGGGGTTAACAGAGCCCCTAAGTCACATAAGTGTGCAAGTCAGAACAAGGCCTTGGTCTCCTGTCTCAGACTCCCAGCCCCTGGAGCATCCTGATTTCAGGGTTCCCACCTAGCCCTTTGCTACCACATCCTCCTCCTCCTCCCAGGTGGTGACTGTGGCGGTGTACAGCTTCTTCCTGACTTGTCTAGTTGGGCGGCAGTTTCTGAACCCAGCCAAGGCCTACCCTGGCCATGAGCTGGACCTCGTTGTGCCCGTCTTCACGTTCCTGCAGTTCTTCTTCTATGTTGGCTGGCTGAAGGTGGGCCTCTCCAGGGCCCTGCTGGGCTGGAGGCATGGCCAGAGGGGTCATGGCCAGCAGCTGCCTGAGACGAGGATGCAGTGTCAGGAAAGGAAGGTCTCACGGGTAGAAAGCAGCCAGGCGTGGTGGCGCACACCTGTAATCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATCGCTTGAACCCGGGAGGCGGAGGTTGTGGTGAGTTGAGATCGTGCCACTGCACTCCAGCCTGGGCAAAAGAATGAAACTCTATCTCAAAAACAACAACAACAACAAAACAAAGCCCTAAGGTTCAGAAGCCCCTGCCCTTTAGAAGGCAGATCGGCACCACCTCTCCTTATTCAAGATGCCTGTTGGGCTGTCTTGTTCCTCACCTCAAGTGGCTTGTCCAGGTATTCCCTCCCACCACAGCCAATACTCCGAACAGATGTTCTGAATCACACAGTTTTCTCTCCACCTCTTTATCTTTCCTTCCTTCTGTTGCCCACCCACTCTCTCTCCCTTCCTACCTTCCTTTATTTTTTGGTAATGGGGGTGTAAGTCTCTGTCTCTGCCCTTCCTGTCACTGTGACACACACACACACACACACACACACACACACATACACACACACACACACGCATTCCTATTCCTCTAAATTCCCCCTGCCCCCCCAGTTATCTTTGGTTTCTGCAGATCAAAACAAATCACACTTTTATGCTTGAAATTCTCCGGGGTGCCCCAGTGGCCTGCAAGATGTCCCCTGGACCCCTAAGGCAGACGCGTGTCACCTCTTCGGGGCTTTGTTAGGGCATTTTAGAGGTTGCTATCCAGGAATCTGCCCACCTAGACTGCCCTTTAGTTCAGCCCAGCTTCAGTATATATCTCTGTTGCATGAATGAATAAAATTATGCAACTCCAGGTAAGATACATGAGGTGAGATAAAGGCAGTGACTCAGCCGAGTGATACACTCAGGGACAGCTGTGGGTGTTCAGGGAAGGACTGGCTCAGAAGAGTTAGAGGGGCTGTGTCCAGAAGTGTGTGGGTGCCCACAAGTGTGGGGGGCTGGAGCCCTAAACTCTGCCTTTGAAGACAGTGGTCAGGCAGGAAGGGCGTCATGGGGTGTGGAAATAGCAGCAGCTGAGGTTTAAAGGGGGAAGCTGGCTTTGAGGAGTTCTGCCTGAGGGTTTACAGAGCCTCACCTGTCCCCAAGGTGGCAGAGCAGCTCATCAACCCCTTTGGAGAGGATGATGATGATTTTGAGACCAACTGGATTGTCGACAGGAATTTGCAGGTATGGGGAGAGGGAGAGAAACCATACCATGGACCTTCCCCAAAGTGGACCCAAAGAGAGGACCCCACTGTTCTGTAGGGAGGCCTCACAGTGAATGATCAACCCTTCCCCTCCTCCCTCCTGCAGCCAGTCATTCACTCACAGGATTCTCACCTCAATCTTTGAGGCTGCAGGCAGGCACCCATCTCCCCATTTCACAGGCAGGGAAACTGAGGTCCAGAGAGAGGGAGAGATTCCTCCAAGTCATCAGGCACATACAAGGTCCTGCCTGGGATGATCTTTCTGTGGGACTTCTTCTGTCCCTGGTGACCAGGTGTCCCTGTTGGCTGTGGATGAGATGCACCAGGACCTGCCTCGGATGGAGCCGGACATGTACTGGAATAAGCCCGAGCCACAGCCCCCCTACACAGCTGCTTCCGCCCAGTTCCGTCGAGCCTCCTTTATGGGCTCCACCTTCAACATCAGGTGTGGCCAGAGCCAGGGGGCTGGGTGGGAAGCCCCTCCTAGTGCAGGGGTCTGCCTAGGAACTTAGAATAGCACTAGTTAATGCATACAGGTTGCTTCAGTAAGTGTCAGGCACTGTACTATGCTCTTTATAAACATTAACTATTTTTTTCCTCCCAATAATTCTGGTTTGTTATCCCAAGTTTTCAGATAATTAAAGTACAGGTTCAGAGAGAGTAAGTTGTCCAAGGCCACATAGCTACCAAATGGTGCATTTGCTACTCGAAGGACAGCCTGTGATCAGTGATGCAGTGGAACGTTAGGACCTGGCTCTTGTCATCCAGAACTATGTTTTCTTTTCTTTTTGAGACAGTATCTCGCTCTGTCGCCCAGGTTGGAGCGCAGTGGCGTGATCTTGGCTCACTGCAACCTCCGCCTCCTGGGTTCAAGTGATTCTCCTGCTTCAGCCTCCCCAGTAGCTGGGATTACAGGTGCCCACAACCACAACTGGCTAATTTTTGTACTTTTAGTAGAGATGAGGTTTCACCATGTTGGCCAGGCTGGTCTCCAACTCCTGACCAGTAATCTGCCCGCTTTGGCCTCCCAAAATGCTGGAATTATAGGTGTCAAAACTATGTTTTCTGATAAGCTACGATGCTTGGATGGGAAGTGGAAGTGGGGTTCCCTGGGATGGGGGAGGGGCAGCAAAGTCCCAGCAGGCAGCCAGGCCATCACAGGTACCTCCTGAATTGACTTTGTCCTACCGAGTAAAGGGCTCAGGCCACCCACAGCAGCCAGACTTATCCCCACATGGTCCCACTTCCCTGATTCCATCTGAATCCCTCTTGAGCTGCAGTGGGCTGAAGGGCTATCCCAGCTGGTCCTTTCTCCCCAGGACAACAGAGTTGAAAGTGCCTTGGAGAGTGTTGGGCACATGTCAGGGTTCATACTCAAGGGTTTCTTCCACGGTATCCAGTGCTGTTCTCGCTTGTTCTTTTCTTTTTTTTTTTTTAAACGGAGTTTCACTCTTGTTGCCCAGAGCTGGAGTGCAGTGGCATAATCTCGGCTCACTGCAACCTCCGCCTCCCAGATTCAAGCAATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTATAGGTGCCAGCCACCAAGCCCGGCTAATTTTTGTATTTTTAGTAGAGACAGTTTCACCATGTTGGCCAGGCTGGTCTCGAACTCCTGACCTCAGGTGATCCACCCTCCTCAGCCTCCCAAAGTGCTGGGATTACATGTGTGAGCCACTGTGCCTGGCTGCTTGTTCTTTTAAGAACCAAATATCCTACTAGACTGCAATCGAGTTTAACTACAGTCTATAGATAGTGTGAGGAAGGGTTGGGAAGGTGATCAAATGAAGGCTGGAGGCTTGCTTAGGTCAGAAACATTTCTGGAGGATGACTTTGAGCCCTACATGGTCTGTACCCCAGCAGCTGAAGGTTGTTGAGGGGTGGGGAGGGCTGAAAACAGAACGATAAAGCATAGACCTTGTCTCCAAGGAATGCACAATTTATGGAGGGAGCTCAAACCC
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TTTTGGGAAACTGAGGCTAGAAGGACCAAGGAAGCAGCTGGGGTGGGAAGGGCTCACCTAGAGGCTAAGTGGCTCCCCTGGGAGTTGGGTCCACACTTTGAAGTTGGGTCTGGACTTTGAAGTGCCAAGTTCTAAGAGTCCAGGCTCCTGCCTGGCCCAGTCCAGTAGAGGCAATGTGATTATCCCCATATTAAAGAGAGGTTGGCCGGGTGCAGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAAGCTGAGGCAGGTGGATCACCTGAGGTCAGGAGTTCGAGACCAGCCTGGCCAACATGGTGAAACCCCATCTCTACTGAAAATACAGAATTAGCTGTGTGGTGGTGCACGCCTGTAATCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATCGCTTGAACCCGGGAGGTGGAGGTTGCAGTGAGCTGAGATCATGCCACTGCACTCCAGCCTGGGCGACACAGCAAGACTCTGTCTCAAACAAACAAACAAACAAACAAACAAAGGGGTTAACAGAGCCCCTAAGTCACATAAGTGTGCAAGTCAGAACAAGGCCTTGGTCTCCTGTCTCAGACTCCCAGCCCCTGGAGCATCCTGATTTCAGGGTTCCCACCTAGCCCTTTGCTACCACATCCTCCTCCTCCTCCCAGGTGGTGACTGTGGCGGTGTACAGCTTCTTCCTGACTTGTCTAGTTGGGCGGCAGTTTCTGAACCCAGCCAAGGCCTACCCTGGCCATGAGCTGGACCTCGTTGTGCCCGTCTTCACGTTCCTGCAGTTCTTCTTCTATGTTGGCTGGCTGAAGGTGGGCCTCTCCAGGGCCCTGCTGGGCTGGAGGCATGGCCAGAGGGGTCATGGCCAGCAGCTGCCTGAGACGAGGATGCAGTGTCAGGAAAGGAAGGTCTCACGGGTAGAAAGCAGCCAGGCGTGGTGGCGCACACCTGTAATCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATCGCTTGAACCCGGGAGGCGGAGGTTGTGGTGAGTTGAGATCGTGCCACTGCACTCCAGCCTGGGCAAAAGAATGAAACTCTATCTCAAAAACAACAACAACAACAAAACAAAGCCCTAAGGTTCAGAAGCCCCTGCCCTTTAGAAGGCAGATCGGCACCACCTCTCCTTATTCAAGATGCCTGTTGGGCTGTCTTGTTCCTCACCTCAAGTGGCTTGTCCAGGTATTCCCTCCCACCACAGCCAATACTCCGAACAGATGTTCTGAATCACACAGTTTTCTCTCCACCTCTTTATCTTTCCTTCCTTCTGTTGCCCACCCACTCTCTCTCCCTTCCTACCTTCCTTTATTTTTTGGTAATGGGGGTGTAAGTCTCTGTCTCTGCCCTTCCTGTCACTGTGACACACACACACACACACACACACACACACACATACACACACACACACACGCATTCCTATTCCTCTAAATTCCCCCTGCCCCCCCAGTTATCTTTGGTTTCTGCAGATCAAAACAAATCACACTTTTATGCTTGAAATTCTCCGGGGTGCCCCAGTGGCCTGCAAGATGTCCCCTGGACCCCTAAGGCAGACGCGTGTCACCTCTTCGGGGCTTTGTTAGGGCATTTTAGAGGTTGCTATCCAGGAATCTGCCCACCTAGACTGCCCTTTAGTTCAGCCCAGCTTCAGTATATATCTCTGTTGCATGAATGAATAAAATTATGCAACTCCAGGTAAGATACATGAGGTGAGATAAAGGCAGTGACTCAGCCGAGTGATACACTCAGGGACAGCTGTGGGTGTTCAGGGAAGGACTGGCTCAGAAGAGTTAGAGGGGCTGTGTCCAGAAGTGTGTGGGTGCCCACAAGTGTGGGGGGCTGGAGCCCTAAACTCTGCCTTTGAAGACAGTGGTCAGGCAGGAAGGGCGTCATGGGGTGTGGAAATAGCAGCAGCTGAGGTTTAAAGGGGGAAGCTGGCTTTGAGGAGTTCTGCCTGAGGGTTTACAGAGCCTCACCTGTCCCCAAGGTGGCAGAGCAGCTCATCAACCCCTTTGGAGAGGATGATGATAATTTTGAGACCAACTGGATTGTCGACAGGAATTTGCAGGTATGGGGAGAGGGAGAGAAACCATACCATGGACCTTCCCCAAAGTGGACCCAAAGAGAGGACCCCACTGTTCTGTAGGGAGGCCTCACAGTGAATGATCAACCCTTCCCCTCCTCCCTCCTGCAGCCAGTCATTCACTCACAGGATTCTCACCTCAATCTTTGAGGCTGCAGGCAGGCACCCATCTCCCCATTTCACAGGCAGGGAAACTGAGGTCCAGAGAGAGGGAGAGATTCCTCCAAGTCATCAGGCACATACAAGGTCCTGCCTGGGATGATCTTTCTGTGGGACTTCTTCTGTCCCTGGTGACCAGGTGTCCCTGTTGGCTGTGGATGAGATGCACCAGGACCTGCCTCGGATGGAGCCGGACATGTACTGGAATAAGCCCGAGCCACAGCCCCCCTACACAGCTGCTTCCGCCCAGTTCCGTCGAGCCTCCTTTATGGGCTCCACCTTCAACATCAGGTGTGGCCAGAGCCAGGGGGCTGGGTGGGAAGCCCCTCCTAGTGCAGGGGTCTGCCTAGGAACTTAGAATAGCACTAGTTAATGCATACAGGTTGCTTCAGTAAGTGTCAGGCACTGTACTATGCTCTTTATAAACATTAACTATTTTTTTCCTCCCAATAATTCTGGTTTGTTATCCCAAGTTTTCAGATAATTAAAGTACAGGTTCAGAGAGAGTAAGTTGTCCAAGGCCACATAGCTACCAAATGGTGCATTTGCTACTCGAAGGACAGCCTGTGATCAGTGATGCAGTGGAACGTTAGGACCTGGCTCTTGTCATCCAGAACTATGTTTTCTTTTCTTTTTGAGACAGTATCTCGCTCTGTCGCCCAGGTTGGAGCGCAGTGGCGTGATCTTGGCTCACTGCAACCTCCGCCTCCTGGGTTCAAGTGATTCTCCTGCTTCAGCCTCCCCAGTAGCTGGGATTACAGGTGCCCACAACCACAACTGGCTAATTTTTGTACTTTTAGTAGAGATGAGGTTTCACCATGTTGGCCAGGCTGGTCTCCAACTCCTGACCAGTAATCTGCCCGCTTTGGCCTCCCAAAATGCTGGAATTATAGGTGTCAAAACTATGTTTTCTGATAAGCTACGATGCTTGGATGGGAAGTGGAAGTGGGGTTCCCTGGGATGGGGGAGGGGCAGCAAAGTCCCAGCAGGCAGCCAGGCCATCACAGGTACCTCCTGAATTGACTTTGTCCTACCGAGTAAAGGGCTCAGGCCACCCACAGCAGCCAGACTTATCCCCACATGGTCCCACTTCCCTGATTCCATCTGAATCCCTCTTGAGCTGCAGTGGGCTGAAGGGCTATCCCAGCTGGTCCTTTCTCCCCAGGACAACAGAGTTGAAAGTGCCTTGGAGAGTGTTGGGCACATGTCAGGGTTCATACTCAAGGGTTTCTTCCACGGTATCCAGTGCTGTTCTCGCTTGTTCTTTTCTTTTTTTTTTTTTAAACGGAGTTTCACTCTTGTTGCCCAGAGCTGGAGTGCAGTGGCATAATCTCGGCTCACTGCAACCTCCGCCTCCCAGATTCAAGCAATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTATAGGTGCCAGCCACCAAGCCCGGCTAATTTTTGTATTTTTAGTAGAGACAGTTTCACCATGTTGGCCAGGCTGGTCTCGAACTCCTGACCTCAGGTGATCCACCCTCCTCAGCCTCCCAAAGTGCTGGGATTACATGTGTGAGCCACTGTGCCTGGCTGCTTGTTCTTTTAAGAACCAAATATCCTACTAGACTGCAATCGAGTTTAACTACAGTCTATAGATAGTGTGAGGAAGGGTTGGGAAGGTGATCAAATGAAGGCTGGAGGCTTGCTTAGGTCAGAAACATTTCTGGAGGATGACTTTGAGCCCTACATGGTCTGTACCCCAGCAGCTGAAGGTTGTTGAGGGGTGGGGAGGGCTGAAAACAGAACGATAAAGCATAGACCTTGTCTCCAAGGAATGCACAATTTATGGAGGGAGCTCAAACCC
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Task1_train_15960
|
Here is a mutation in BEST1 (bestrophin 1) on Chromosome 11. Determine whether it’s benign or pathogenic. If the latter, what disease does it cause?
|
Pathogenic; Retinal dystrophy
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GGGAAACTGAGGCTAGAAGGACCAAGGAAGCAGCTGGGGTGGGAAGGGCTCACCTAGAGGCTAAGTGGCTCCCCTGGGAGTTGGGTCCACACTTTGAAGTTGGGTCTGGACTTTGAAGTGCCAAGTTCTAAGAGTCCAGGCTCCTGCCTGGCCCAGTCCAGTAGAGGCAATGTGATTATCCCCATATTAAAGAGAGGTTGGCCGGGTGCAGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAAGCTGAGGCAGGTGGATCACCTGAGGTCAGGAGTTCGAGACCAGCCTGGCCAACATGGTGAAACCCCATCTCTACTGAAAATACAGAATTAGCTGTGTGGTGGTGCACGCCTGTAATCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATCGCTTGAACCCGGGAGGTGGAGGTTGCAGTGAGCTGAGATCATGCCACTGCACTCCAGCCTGGGCGACACAGCAAGACTCTGTCTCAAACAAACAAACAAACAAACAAACAAAGGGGTTAACAGAGCCCCTAAGTCACATAAGTGTGCAAGTCAGAACAAGGCCTTGGTCTCCTGTCTCAGACTCCCAGCCCCTGGAGCATCCTGATTTCAGGGTTCCCACCTAGCCCTTTGCTACCACATCCTCCTCCTCCTCCCAGGTGGTGACTGTGGCGGTGTACAGCTTCTTCCTGACTTGTCTAGTTGGGCGGCAGTTTCTGAACCCAGCCAAGGCCTACCCTGGCCATGAGCTGGACCTCGTTGTGCCCGTCTTCACGTTCCTGCAGTTCTTCTTCTATGTTGGCTGGCTGAAGGTGGGCCTCTCCAGGGCCCTGCTGGGCTGGAGGCATGGCCAGAGGGGTCATGGCCAGCAGCTGCCTGAGACGAGGATGCAGTGTCAGGAAAGGAAGGTCTCACGGGTAGAAAGCAGCCAGGCGTGGTGGCGCACACCTGTAATCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATCGCTTGAACCCGGGAGGCGGAGGTTGTGGTGAGTTGAGATCGTGCCACTGCACTCCAGCCTGGGCAAAAGAATGAAACTCTATCTCAAAAACAACAACAACAACAAAACAAAGCCCTAAGGTTCAGAAGCCCCTGCCCTTTAGAAGGCAGATCGGCACCACCTCTCCTTATTCAAGATGCCTGTTGGGCTGTCTTGTTCCTCACCTCAAGTGGCTTGTCCAGGTATTCCCTCCCACCACAGCCAATACTCCGAACAGATGTTCTGAATCACACAGTTTTCTCTCCACCTCTTTATCTTTCCTTCCTTCTGTTGCCCACCCACTCTCTCTCCCTTCCTACCTTCCTTTATTTTTTGGTAATGGGGGTGTAAGTCTCTGTCTCTGCCCTTCCTGTCACTGTGACACACACACACACACACACACACACACACACATACACACACACACACACGCATTCCTATTCCTCTAAATTCCCCCTGCCCCCCCAGTTATCTTTGGTTTCTGCAGATCAAAACAAATCACACTTTTATGCTTGAAATTCTCCGGGGTGCCCCAGTGGCCTGCAAGATGTCCCCTGGACCCCTAAGGCAGACGCGTGTCACCTCTTCGGGGCTTTGTTAGGGCATTTTAGAGGTTGCTATCCAGGAATCTGCCCACCTAGACTGCCCTTTAGTTCAGCCCAGCTTCAGTATATATCTCTGTTGCATGAATGAATAAAATTATGCAACTCCAGGTAAGATACATGAGGTGAGATAAAGGCAGTGACTCAGCCGAGTGATACACTCAGGGACAGCTGTGGGTGTTCAGGGAAGGACTGGCTCAGAAGAGTTAGAGGGGCTGTGTCCAGAAGTGTGTGGGTGCCCACAAGTGTGGGGGGCTGGAGCCCTAAACTCTGCCTTTGAAGACAGTGGTCAGGCAGGAAGGGCGTCATGGGGTGTGGAAATAGCAGCAGCTGAGGTTTAAAGGGGGAAGCTGGCTTTGAGGAGTTCTGCCTGAGGGTTTACAGAGCCTCACCTGTCCCCAAGGTGGCAGAGCAGCTCATCAACCCCTTTGGAGAGGATGATGATGATTTTGAGACCAACTGGATTGTCGACAGGAATTTGCAGGTATGGGGAGAGGGAGAGAAACCATACCATGGACCTTCCCCAAAGTGGACCCAAAGAGAGGACCCCACTGTTCTGTAGGGAGGCCTCACAGTGAATGATCAACCCTTCCCCTCCTCCCTCCTGCAGCCAGTCATTCACTCACAGGATTCTCACCTCAATCTTTGAGGCTGCAGGCAGGCACCCATCTCCCCATTTCACAGGCAGGGAAACTGAGGTCCAGAGAGAGGGAGAGATTCCTCCAAGTCATCAGGCACATACAAGGTCCTGCCTGGGATGATCTTTCTGTGGGACTTCTTCTGTCCCTGGTGACCAGGTGTCCCTGTTGGCTGTGGATGAGATGCACCAGGACCTGCCTCGGATGGAGCCGGACATGTACTGGAATAAGCCCGAGCCACAGCCCCCCTACACAGCTGCTTCCGCCCAGTTCCGTCGAGCCTCCTTTATGGGCTCCACCTTCAACATCAGGTGTGGCCAGAGCCAGGGGGCTGGGTGGGAAGCCCCTCCTAGTGCAGGGGTCTGCCTAGGAACTTAGAATAGCACTAGTTAATGCATACAGGTTGCTTCAGTAAGTGTCAGGCACTGTACTATGCTCTTTATAAACATTAACTATTTTTTTCCTCCCAATAATTCTGGTTTGTTATCCCAAGTTTTCAGATAATTAAAGTACAGGTTCAGAGAGAGTAAGTTGTCCAAGGCCACATAGCTACCAAATGGTGCATTTGCTACTCGAAGGACAGCCTGTGATCAGTGATGCAGTGGAACGTTAGGACCTGGCTCTTGTCATCCAGAACTATGTTTTCTTTTCTTTTTGAGACAGTATCTCGCTCTGTCGCCCAGGTTGGAGCGCAGTGGCGTGATCTTGGCTCACTGCAACCTCCGCCTCCTGGGTTCAAGTGATTCTCCTGCTTCAGCCTCCCCAGTAGCTGGGATTACAGGTGCCCACAACCACAACTGGCTAATTTTTGTACTTTTAGTAGAGATGAGGTTTCACCATGTTGGCCAGGCTGGTCTCCAACTCCTGACCAGTAATCTGCCCGCTTTGGCCTCCCAAAATGCTGGAATTATAGGTGTCAAAACTATGTTTTCTGATAAGCTACGATGCTTGGATGGGAAGTGGAAGTGGGGTTCCCTGGGATGGGGGAGGGGCAGCAAAGTCCCAGCAGGCAGCCAGGCCATCACAGGTACCTCCTGAATTGACTTTGTCCTACCGAGTAAAGGGCTCAGGCCACCCACAGCAGCCAGACTTATCCCCACATGGTCCCACTTCCCTGATTCCATCTGAATCCCTCTTGAGCTGCAGTGGGCTGAAGGGCTATCCCAGCTGGTCCTTTCTCCCCAGGACAACAGAGTTGAAAGTGCCTTGGAGAGTGTTGGGCACATGTCAGGGTTCATACTCAAGGGTTTCTTCCACGGTATCCAGTGCTGTTCTCGCTTGTTCTTTTCTTTTTTTTTTTTTAAACGGAGTTTCACTCTTGTTGCCCAGAGCTGGAGTGCAGTGGCATAATCTCGGCTCACTGCAACCTCCGCCTCCCAGATTCAAGCAATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTATAGGTGCCAGCCACCAAGCCCGGCTAATTTTTGTATTTTTAGTAGAGACAGTTTCACCATGTTGGCCAGGCTGGTCTCGAACTCCTGACCTCAGGTGATCCACCCTCCTCAGCCTCCCAAAGTGCTGGGATTACATGTGTGAGCCACTGTGCCTGGCTGCTTGTTCTTTTAAGAACCAAATATCCTACTAGACTGCAATCGAGTTTAACTACAGTCTATAGATAGTGTGAGGAAGGGTTGGGAAGGTGATCAAATGAAGGCTGGAGGCTTGCTTAGGTCAGAAACATTTCTGGAGGATGACTTTGAGCCCTACATGGTCTGTACCCCAGCAGCTGAAGGTTGTTGAGGGGTGGGGAGGGCTGAAAACAGAACGATAAAGCATAGACCTTGTCTCCAAGGAATGCACAATTTATGGAGGGAGCTCAAACCCAAGC
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GGGAAACTGAGGCTAGAAGGACCAAGGAAGCAGCTGGGGTGGGAAGGGCTCACCTAGAGGCTAAGTGGCTCCCCTGGGAGTTGGGTCCACACTTTGAAGTTGGGTCTGGACTTTGAAGTGCCAAGTTCTAAGAGTCCAGGCTCCTGCCTGGCCCAGTCCAGTAGAGGCAATGTGATTATCCCCATATTAAAGAGAGGTTGGCCGGGTGCAGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAAGCTGAGGCAGGTGGATCACCTGAGGTCAGGAGTTCGAGACCAGCCTGGCCAACATGGTGAAACCCCATCTCTACTGAAAATACAGAATTAGCTGTGTGGTGGTGCACGCCTGTAATCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATCGCTTGAACCCGGGAGGTGGAGGTTGCAGTGAGCTGAGATCATGCCACTGCACTCCAGCCTGGGCGACACAGCAAGACTCTGTCTCAAACAAACAAACAAACAAACAAACAAAGGGGTTAACAGAGCCCCTAAGTCACATAAGTGTGCAAGTCAGAACAAGGCCTTGGTCTCCTGTCTCAGACTCCCAGCCCCTGGAGCATCCTGATTTCAGGGTTCCCACCTAGCCCTTTGCTACCACATCCTCCTCCTCCTCCCAGGTGGTGACTGTGGCGGTGTACAGCTTCTTCCTGACTTGTCTAGTTGGGCGGCAGTTTCTGAACCCAGCCAAGGCCTACCCTGGCCATGAGCTGGACCTCGTTGTGCCCGTCTTCACGTTCCTGCAGTTCTTCTTCTATGTTGGCTGGCTGAAGGTGGGCCTCTCCAGGGCCCTGCTGGGCTGGAGGCATGGCCAGAGGGGTCATGGCCAGCAGCTGCCTGAGACGAGGATGCAGTGTCAGGAAAGGAAGGTCTCACGGGTAGAAAGCAGCCAGGCGTGGTGGCGCACACCTGTAATCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATCGCTTGAACCCGGGAGGCGGAGGTTGTGGTGAGTTGAGATCGTGCCACTGCACTCCAGCCTGGGCAAAAGAATGAAACTCTATCTCAAAAACAACAACAACAACAAAACAAAGCCCTAAGGTTCAGAAGCCCCTGCCCTTTAGAAGGCAGATCGGCACCACCTCTCCTTATTCAAGATGCCTGTTGGGCTGTCTTGTTCCTCACCTCAAGTGGCTTGTCCAGGTATTCCCTCCCACCACAGCCAATACTCCGAACAGATGTTCTGAATCACACAGTTTTCTCTCCACCTCTTTATCTTTCCTTCCTTCTGTTGCCCACCCACTCTCTCTCCCTTCCTACCTTCCTTTATTTTTTGGTAATGGGGGTGTAAGTCTCTGTCTCTGCCCTTCCTGTCACTGTGACACACACACACACACACACACACACACACACATACACACACACACACACGCATTCCTATTCCTCTAAATTCCCCCTGCCCCCCCAGTTATCTTTGGTTTCTGCAGATCAAAACAAATCACACTTTTATGCTTGAAATTCTCCGGGGTGCCCCAGTGGCCTGCAAGATGTCCCCTGGACCCCTAAGGCAGACGCGTGTCACCTCTTCGGGGCTTTGTTAGGGCATTTTAGAGGTTGCTATCCAGGAATCTGCCCACCTAGACTGCCCTTTAGTTCAGCCCAGCTTCAGTATATATCTCTGTTGCATGAATGAATAAAATTATGCAACTCCAGGTAAGATACATGAGGTGAGATAAAGGCAGTGACTCAGCCGAGTGATACACTCAGGGACAGCTGTGGGTGTTCAGGGAAGGACTGGCTCAGAAGAGTTAGAGGGGCTGTGTCCAGAAGTGTGTGGGTGCCCACAAGTGTGGGGGGCTGGAGCCCTAAACTCTGCCTTTGAAGACAGTGGTCAGGCAGGAAGGGCGTCATGGGGTGTGGAAATAGCAGCAGCTGAGGTTTAAAGGGGGAAGCTGGCTTTGAGGAGTTCTGCCTGAGGGTTTACAGAGCCTCACCTGTCCCCAAGGTGGCAGAGCAGCTCATCAACCCCTTTGGAGAGGATGATGATGATTCTGAGACCAACTGGATTGTCGACAGGAATTTGCAGGTATGGGGAGAGGGAGAGAAACCATACCATGGACCTTCCCCAAAGTGGACCCAAAGAGAGGACCCCACTGTTCTGTAGGGAGGCCTCACAGTGAATGATCAACCCTTCCCCTCCTCCCTCCTGCAGCCAGTCATTCACTCACAGGATTCTCACCTCAATCTTTGAGGCTGCAGGCAGGCACCCATCTCCCCATTTCACAGGCAGGGAAACTGAGGTCCAGAGAGAGGGAGAGATTCCTCCAAGTCATCAGGCACATACAAGGTCCTGCCTGGGATGATCTTTCTGTGGGACTTCTTCTGTCCCTGGTGACCAGGTGTCCCTGTTGGCTGTGGATGAGATGCACCAGGACCTGCCTCGGATGGAGCCGGACATGTACTGGAATAAGCCCGAGCCACAGCCCCCCTACACAGCTGCTTCCGCCCAGTTCCGTCGAGCCTCCTTTATGGGCTCCACCTTCAACATCAGGTGTGGCCAGAGCCAGGGGGCTGGGTGGGAAGCCCCTCCTAGTGCAGGGGTCTGCCTAGGAACTTAGAATAGCACTAGTTAATGCATACAGGTTGCTTCAGTAAGTGTCAGGCACTGTACTATGCTCTTTATAAACATTAACTATTTTTTTCCTCCCAATAATTCTGGTTTGTTATCCCAAGTTTTCAGATAATTAAAGTACAGGTTCAGAGAGAGTAAGTTGTCCAAGGCCACATAGCTACCAAATGGTGCATTTGCTACTCGAAGGACAGCCTGTGATCAGTGATGCAGTGGAACGTTAGGACCTGGCTCTTGTCATCCAGAACTATGTTTTCTTTTCTTTTTGAGACAGTATCTCGCTCTGTCGCCCAGGTTGGAGCGCAGTGGCGTGATCTTGGCTCACTGCAACCTCCGCCTCCTGGGTTCAAGTGATTCTCCTGCTTCAGCCTCCCCAGTAGCTGGGATTACAGGTGCCCACAACCACAACTGGCTAATTTTTGTACTTTTAGTAGAGATGAGGTTTCACCATGTTGGCCAGGCTGGTCTCCAACTCCTGACCAGTAATCTGCCCGCTTTGGCCTCCCAAAATGCTGGAATTATAGGTGTCAAAACTATGTTTTCTGATAAGCTACGATGCTTGGATGGGAAGTGGAAGTGGGGTTCCCTGGGATGGGGGAGGGGCAGCAAAGTCCCAGCAGGCAGCCAGGCCATCACAGGTACCTCCTGAATTGACTTTGTCCTACCGAGTAAAGGGCTCAGGCCACCCACAGCAGCCAGACTTATCCCCACATGGTCCCACTTCCCTGATTCCATCTGAATCCCTCTTGAGCTGCAGTGGGCTGAAGGGCTATCCCAGCTGGTCCTTTCTCCCCAGGACAACAGAGTTGAAAGTGCCTTGGAGAGTGTTGGGCACATGTCAGGGTTCATACTCAAGGGTTTCTTCCACGGTATCCAGTGCTGTTCTCGCTTGTTCTTTTCTTTTTTTTTTTTTAAACGGAGTTTCACTCTTGTTGCCCAGAGCTGGAGTGCAGTGGCATAATCTCGGCTCACTGCAACCTCCGCCTCCCAGATTCAAGCAATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTATAGGTGCCAGCCACCAAGCCCGGCTAATTTTTGTATTTTTAGTAGAGACAGTTTCACCATGTTGGCCAGGCTGGTCTCGAACTCCTGACCTCAGGTGATCCACCCTCCTCAGCCTCCCAAAGTGCTGGGATTACATGTGTGAGCCACTGTGCCTGGCTGCTTGTTCTTTTAAGAACCAAATATCCTACTAGACTGCAATCGAGTTTAACTACAGTCTATAGATAGTGTGAGGAAGGGTTGGGAAGGTGATCAAATGAAGGCTGGAGGCTTGCTTAGGTCAGAAACATTTCTGGAGGATGACTTTGAGCCCTACATGGTCTGTACCCCAGCAGCTGAAGGTTGTTGAGGGGTGGGGAGGGCTGAAAACAGAACGATAAAGCATAGACCTTGTCTCCAAGGAATGCACAATTTATGGAGGGAGCTCAAACCCAAGC
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Task1_train_15961
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The variant affects gene BEST1 (bestrophin 1), which is on Chromosome 11. Please evaluate whether this mutation is benign or pathogenic and specify the disease if necessary.
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Pathogenic; not provided
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AAACTGAGGCTAGAAGGACCAAGGAAGCAGCTGGGGTGGGAAGGGCTCACCTAGAGGCTAAGTGGCTCCCCTGGGAGTTGGGTCCACACTTTGAAGTTGGGTCTGGACTTTGAAGTGCCAAGTTCTAAGAGTCCAGGCTCCTGCCTGGCCCAGTCCAGTAGAGGCAATGTGATTATCCCCATATTAAAGAGAGGTTGGCCGGGTGCAGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAAGCTGAGGCAGGTGGATCACCTGAGGTCAGGAGTTCGAGACCAGCCTGGCCAACATGGTGAAACCCCATCTCTACTGAAAATACAGAATTAGCTGTGTGGTGGTGCACGCCTGTAATCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATCGCTTGAACCCGGGAGGTGGAGGTTGCAGTGAGCTGAGATCATGCCACTGCACTCCAGCCTGGGCGACACAGCAAGACTCTGTCTCAAACAAACAAACAAACAAACAAACAAAGGGGTTAACAGAGCCCCTAAGTCACATAAGTGTGCAAGTCAGAACAAGGCCTTGGTCTCCTGTCTCAGACTCCCAGCCCCTGGAGCATCCTGATTTCAGGGTTCCCACCTAGCCCTTTGCTACCACATCCTCCTCCTCCTCCCAGGTGGTGACTGTGGCGGTGTACAGCTTCTTCCTGACTTGTCTAGTTGGGCGGCAGTTTCTGAACCCAGCCAAGGCCTACCCTGGCCATGAGCTGGACCTCGTTGTGCCCGTCTTCACGTTCCTGCAGTTCTTCTTCTATGTTGGCTGGCTGAAGGTGGGCCTCTCCAGGGCCCTGCTGGGCTGGAGGCATGGCCAGAGGGGTCATGGCCAGCAGCTGCCTGAGACGAGGATGCAGTGTCAGGAAAGGAAGGTCTCACGGGTAGAAAGCAGCCAGGCGTGGTGGCGCACACCTGTAATCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATCGCTTGAACCCGGGAGGCGGAGGTTGTGGTGAGTTGAGATCGTGCCACTGCACTCCAGCCTGGGCAAAAGAATGAAACTCTATCTCAAAAACAACAACAACAACAAAACAAAGCCCTAAGGTTCAGAAGCCCCTGCCCTTTAGAAGGCAGATCGGCACCACCTCTCCTTATTCAAGATGCCTGTTGGGCTGTCTTGTTCCTCACCTCAAGTGGCTTGTCCAGGTATTCCCTCCCACCACAGCCAATACTCCGAACAGATGTTCTGAATCACACAGTTTTCTCTCCACCTCTTTATCTTTCCTTCCTTCTGTTGCCCACCCACTCTCTCTCCCTTCCTACCTTCCTTTATTTTTTGGTAATGGGGGTGTAAGTCTCTGTCTCTGCCCTTCCTGTCACTGTGACACACACACACACACACACACACACACACACATACACACACACACACACGCATTCCTATTCCTCTAAATTCCCCCTGCCCCCCCAGTTATCTTTGGTTTCTGCAGATCAAAACAAATCACACTTTTATGCTTGAAATTCTCCGGGGTGCCCCAGTGGCCTGCAAGATGTCCCCTGGACCCCTAAGGCAGACGCGTGTCACCTCTTCGGGGCTTTGTTAGGGCATTTTAGAGGTTGCTATCCAGGAATCTGCCCACCTAGACTGCCCTTTAGTTCAGCCCAGCTTCAGTATATATCTCTGTTGCATGAATGAATAAAATTATGCAACTCCAGGTAAGATACATGAGGTGAGATAAAGGCAGTGACTCAGCCGAGTGATACACTCAGGGACAGCTGTGGGTGTTCAGGGAAGGACTGGCTCAGAAGAGTTAGAGGGGCTGTGTCCAGAAGTGTGTGGGTGCCCACAAGTGTGGGGGGCTGGAGCCCTAAACTCTGCCTTTGAAGACAGTGGTCAGGCAGGAAGGGCGTCATGGGGTGTGGAAATAGCAGCAGCTGAGGTTTAAAGGGGGAAGCTGGCTTTGAGGAGTTCTGCCTGAGGGTTTACAGAGCCTCACCTGTCCCCAAGGTGGCAGAGCAGCTCATCAACCCCTTTGGAGAGGATGATGATGATTTTGAGACCAACTGGATTGTCGACAGGAATTTGCAGGTATGGGGAGAGGGAGAGAAACCATACCATGGACCTTCCCCAAAGTGGACCCAAAGAGAGGACCCCACTGTTCTGTAGGGAGGCCTCACAGTGAATGATCAACCCTTCCCCTCCTCCCTCCTGCAGCCAGTCATTCACTCACAGGATTCTCACCTCAATCTTTGAGGCTGCAGGCAGGCACCCATCTCCCCATTTCACAGGCAGGGAAACTGAGGTCCAGAGAGAGGGAGAGATTCCTCCAAGTCATCAGGCACATACAAGGTCCTGCCTGGGATGATCTTTCTGTGGGACTTCTTCTGTCCCTGGTGACCAGGTGTCCCTGTTGGCTGTGGATGAGATGCACCAGGACCTGCCTCGGATGGAGCCGGACATGTACTGGAATAAGCCCGAGCCACAGCCCCCCTACACAGCTGCTTCCGCCCAGTTCCGTCGAGCCTCCTTTATGGGCTCCACCTTCAACATCAGGTGTGGCCAGAGCCAGGGGGCTGGGTGGGAAGCCCCTCCTAGTGCAGGGGTCTGCCTAGGAACTTAGAATAGCACTAGTTAATGCATACAGGTTGCTTCAGTAAGTGTCAGGCACTGTACTATGCTCTTTATAAACATTAACTATTTTTTTCCTCCCAATAATTCTGGTTTGTTATCCCAAGTTTTCAGATAATTAAAGTACAGGTTCAGAGAGAGTAAGTTGTCCAAGGCCACATAGCTACCAAATGGTGCATTTGCTACTCGAAGGACAGCCTGTGATCAGTGATGCAGTGGAACGTTAGGACCTGGCTCTTGTCATCCAGAACTATGTTTTCTTTTCTTTTTGAGACAGTATCTCGCTCTGTCGCCCAGGTTGGAGCGCAGTGGCGTGATCTTGGCTCACTGCAACCTCCGCCTCCTGGGTTCAAGTGATTCTCCTGCTTCAGCCTCCCCAGTAGCTGGGATTACAGGTGCCCACAACCACAACTGGCTAATTTTTGTACTTTTAGTAGAGATGAGGTTTCACCATGTTGGCCAGGCTGGTCTCCAACTCCTGACCAGTAATCTGCCCGCTTTGGCCTCCCAAAATGCTGGAATTATAGGTGTCAAAACTATGTTTTCTGATAAGCTACGATGCTTGGATGGGAAGTGGAAGTGGGGTTCCCTGGGATGGGGGAGGGGCAGCAAAGTCCCAGCAGGCAGCCAGGCCATCACAGGTACCTCCTGAATTGACTTTGTCCTACCGAGTAAAGGGCTCAGGCCACCCACAGCAGCCAGACTTATCCCCACATGGTCCCACTTCCCTGATTCCATCTGAATCCCTCTTGAGCTGCAGTGGGCTGAAGGGCTATCCCAGCTGGTCCTTTCTCCCCAGGACAACAGAGTTGAAAGTGCCTTGGAGAGTGTTGGGCACATGTCAGGGTTCATACTCAAGGGTTTCTTCCACGGTATCCAGTGCTGTTCTCGCTTGTTCTTTTCTTTTTTTTTTTTTAAACGGAGTTTCACTCTTGTTGCCCAGAGCTGGAGTGCAGTGGCATAATCTCGGCTCACTGCAACCTCCGCCTCCCAGATTCAAGCAATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTATAGGTGCCAGCCACCAAGCCCGGCTAATTTTTGTATTTTTAGTAGAGACAGTTTCACCATGTTGGCCAGGCTGGTCTCGAACTCCTGACCTCAGGTGATCCACCCTCCTCAGCCTCCCAAAGTGCTGGGATTACATGTGTGAGCCACTGTGCCTGGCTGCTTGTTCTTTTAAGAACCAAATATCCTACTAGACTGCAATCGAGTTTAACTACAGTCTATAGATAGTGTGAGGAAGGGTTGGGAAGGTGATCAAATGAAGGCTGGAGGCTTGCTTAGGTCAGAAACATTTCTGGAGGATGACTTTGAGCCCTACATGGTCTGTACCCCAGCAGCTGAAGGTTGTTGAGGGGTGGGGAGGGCTGAAAACAGAACGATAAAGCATAGACCTTGTCTCCAAGGAATGCACAATTTATGGAGGGAGCTCAAACCCAAGCCTC
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AAACTGAGGCTAGAAGGACCAAGGAAGCAGCTGGGGTGGGAAGGGCTCACCTAGAGGCTAAGTGGCTCCCCTGGGAGTTGGGTCCACACTTTGAAGTTGGGTCTGGACTTTGAAGTGCCAAGTTCTAAGAGTCCAGGCTCCTGCCTGGCCCAGTCCAGTAGAGGCAATGTGATTATCCCCATATTAAAGAGAGGTTGGCCGGGTGCAGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAAGCTGAGGCAGGTGGATCACCTGAGGTCAGGAGTTCGAGACCAGCCTGGCCAACATGGTGAAACCCCATCTCTACTGAAAATACAGAATTAGCTGTGTGGTGGTGCACGCCTGTAATCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATCGCTTGAACCCGGGAGGTGGAGGTTGCAGTGAGCTGAGATCATGCCACTGCACTCCAGCCTGGGCGACACAGCAAGACTCTGTCTCAAACAAACAAACAAACAAACAAACAAAGGGGTTAACAGAGCCCCTAAGTCACATAAGTGTGCAAGTCAGAACAAGGCCTTGGTCTCCTGTCTCAGACTCCCAGCCCCTGGAGCATCCTGATTTCAGGGTTCCCACCTAGCCCTTTGCTACCACATCCTCCTCCTCCTCCCAGGTGGTGACTGTGGCGGTGTACAGCTTCTTCCTGACTTGTCTAGTTGGGCGGCAGTTTCTGAACCCAGCCAAGGCCTACCCTGGCCATGAGCTGGACCTCGTTGTGCCCGTCTTCACGTTCCTGCAGTTCTTCTTCTATGTTGGCTGGCTGAAGGTGGGCCTCTCCAGGGCCCTGCTGGGCTGGAGGCATGGCCAGAGGGGTCATGGCCAGCAGCTGCCTGAGACGAGGATGCAGTGTCAGGAAAGGAAGGTCTCACGGGTAGAAAGCAGCCAGGCGTGGTGGCGCACACCTGTAATCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATCGCTTGAACCCGGGAGGCGGAGGTTGTGGTGAGTTGAGATCGTGCCACTGCACTCCAGCCTGGGCAAAAGAATGAAACTCTATCTCAAAAACAACAACAACAACAAAACAAAGCCCTAAGGTTCAGAAGCCCCTGCCCTTTAGAAGGCAGATCGGCACCACCTCTCCTTATTCAAGATGCCTGTTGGGCTGTCTTGTTCCTCACCTCAAGTGGCTTGTCCAGGTATTCCCTCCCACCACAGCCAATACTCCGAACAGATGTTCTGAATCACACAGTTTTCTCTCCACCTCTTTATCTTTCCTTCCTTCTGTTGCCCACCCACTCTCTCTCCCTTCCTACCTTCCTTTATTTTTTGGTAATGGGGGTGTAAGTCTCTGTCTCTGCCCTTCCTGTCACTGTGACACACACACACACACACACACACACACACACATACACACACACACACACGCATTCCTATTCCTCTAAATTCCCCCTGCCCCCCCAGTTATCTTTGGTTTCTGCAGATCAAAACAAATCACACTTTTATGCTTGAAATTCTCCGGGGTGCCCCAGTGGCCTGCAAGATGTCCCCTGGACCCCTAAGGCAGACGCGTGTCACCTCTTCGGGGCTTTGTTAGGGCATTTTAGAGGTTGCTATCCAGGAATCTGCCCACCTAGACTGCCCTTTAGTTCAGCCCAGCTTCAGTATATATCTCTGTTGCATGAATGAATAAAATTATGCAACTCCAGGTAAGATACATGAGGTGAGATAAAGGCAGTGACTCAGCCGAGTGATACACTCAGGGACAGCTGTGGGTGTTCAGGGAAGGACTGGCTCAGAAGAGTTAGAGGGGCTGTGTCCAGAAGTGTGTGGGTGCCCACAAGTGTGGGGGGCTGGAGCCCTAAACTCTGCCTTTGAAGACAGTGGTCAGGCAGGAAGGGCGTCATGGGGTGTGGAAATAGCAGCAGCTGAGGTTTAAAGGGGGAAGCTGGCTTTGAGGAGTTCTGCCTGAGGGTTTACAGAGCCTCACCTGTCCCCAAGGTGGCAGAGCAGCTCATCAACCCCTTTGGAGAGGATGATGATGATTTTGGGACCAACTGGATTGTCGACAGGAATTTGCAGGTATGGGGAGAGGGAGAGAAACCATACCATGGACCTTCCCCAAAGTGGACCCAAAGAGAGGACCCCACTGTTCTGTAGGGAGGCCTCACAGTGAATGATCAACCCTTCCCCTCCTCCCTCCTGCAGCCAGTCATTCACTCACAGGATTCTCACCTCAATCTTTGAGGCTGCAGGCAGGCACCCATCTCCCCATTTCACAGGCAGGGAAACTGAGGTCCAGAGAGAGGGAGAGATTCCTCCAAGTCATCAGGCACATACAAGGTCCTGCCTGGGATGATCTTTCTGTGGGACTTCTTCTGTCCCTGGTGACCAGGTGTCCCTGTTGGCTGTGGATGAGATGCACCAGGACCTGCCTCGGATGGAGCCGGACATGTACTGGAATAAGCCCGAGCCACAGCCCCCCTACACAGCTGCTTCCGCCCAGTTCCGTCGAGCCTCCTTTATGGGCTCCACCTTCAACATCAGGTGTGGCCAGAGCCAGGGGGCTGGGTGGGAAGCCCCTCCTAGTGCAGGGGTCTGCCTAGGAACTTAGAATAGCACTAGTTAATGCATACAGGTTGCTTCAGTAAGTGTCAGGCACTGTACTATGCTCTTTATAAACATTAACTATTTTTTTCCTCCCAATAATTCTGGTTTGTTATCCCAAGTTTTCAGATAATTAAAGTACAGGTTCAGAGAGAGTAAGTTGTCCAAGGCCACATAGCTACCAAATGGTGCATTTGCTACTCGAAGGACAGCCTGTGATCAGTGATGCAGTGGAACGTTAGGACCTGGCTCTTGTCATCCAGAACTATGTTTTCTTTTCTTTTTGAGACAGTATCTCGCTCTGTCGCCCAGGTTGGAGCGCAGTGGCGTGATCTTGGCTCACTGCAACCTCCGCCTCCTGGGTTCAAGTGATTCTCCTGCTTCAGCCTCCCCAGTAGCTGGGATTACAGGTGCCCACAACCACAACTGGCTAATTTTTGTACTTTTAGTAGAGATGAGGTTTCACCATGTTGGCCAGGCTGGTCTCCAACTCCTGACCAGTAATCTGCCCGCTTTGGCCTCCCAAAATGCTGGAATTATAGGTGTCAAAACTATGTTTTCTGATAAGCTACGATGCTTGGATGGGAAGTGGAAGTGGGGTTCCCTGGGATGGGGGAGGGGCAGCAAAGTCCCAGCAGGCAGCCAGGCCATCACAGGTACCTCCTGAATTGACTTTGTCCTACCGAGTAAAGGGCTCAGGCCACCCACAGCAGCCAGACTTATCCCCACATGGTCCCACTTCCCTGATTCCATCTGAATCCCTCTTGAGCTGCAGTGGGCTGAAGGGCTATCCCAGCTGGTCCTTTCTCCCCAGGACAACAGAGTTGAAAGTGCCTTGGAGAGTGTTGGGCACATGTCAGGGTTCATACTCAAGGGTTTCTTCCACGGTATCCAGTGCTGTTCTCGCTTGTTCTTTTCTTTTTTTTTTTTTAAACGGAGTTTCACTCTTGTTGCCCAGAGCTGGAGTGCAGTGGCATAATCTCGGCTCACTGCAACCTCCGCCTCCCAGATTCAAGCAATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTATAGGTGCCAGCCACCAAGCCCGGCTAATTTTTGTATTTTTAGTAGAGACAGTTTCACCATGTTGGCCAGGCTGGTCTCGAACTCCTGACCTCAGGTGATCCACCCTCCTCAGCCTCCCAAAGTGCTGGGATTACATGTGTGAGCCACTGTGCCTGGCTGCTTGTTCTTTTAAGAACCAAATATCCTACTAGACTGCAATCGAGTTTAACTACAGTCTATAGATAGTGTGAGGAAGGGTTGGGAAGGTGATCAAATGAAGGCTGGAGGCTTGCTTAGGTCAGAAACATTTCTGGAGGATGACTTTGAGCCCTACATGGTCTGTACCCCAGCAGCTGAAGGTTGTTGAGGGGTGGGGAGGGCTGAAAACAGAACGATAAAGCATAGACCTTGTCTCCAAGGAATGCACAATTTATGGAGGGAGCTCAAACCCAAGCCTC
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Task1_train_15962
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A change on Chromosome 11 affects gene BEST1 (bestrophin 1). Identify whether the variant is neutral or disease-linked. Mention the disease if applicable.
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Pathogenic; not provided
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AACTGAGGCTAGAAGGACCAAGGAAGCAGCTGGGGTGGGAAGGGCTCACCTAGAGGCTAAGTGGCTCCCCTGGGAGTTGGGTCCACACTTTGAAGTTGGGTCTGGACTTTGAAGTGCCAAGTTCTAAGAGTCCAGGCTCCTGCCTGGCCCAGTCCAGTAGAGGCAATGTGATTATCCCCATATTAAAGAGAGGTTGGCCGGGTGCAGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAAGCTGAGGCAGGTGGATCACCTGAGGTCAGGAGTTCGAGACCAGCCTGGCCAACATGGTGAAACCCCATCTCTACTGAAAATACAGAATTAGCTGTGTGGTGGTGCACGCCTGTAATCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATCGCTTGAACCCGGGAGGTGGAGGTTGCAGTGAGCTGAGATCATGCCACTGCACTCCAGCCTGGGCGACACAGCAAGACTCTGTCTCAAACAAACAAACAAACAAACAAACAAAGGGGTTAACAGAGCCCCTAAGTCACATAAGTGTGCAAGTCAGAACAAGGCCTTGGTCTCCTGTCTCAGACTCCCAGCCCCTGGAGCATCCTGATTTCAGGGTTCCCACCTAGCCCTTTGCTACCACATCCTCCTCCTCCTCCCAGGTGGTGACTGTGGCGGTGTACAGCTTCTTCCTGACTTGTCTAGTTGGGCGGCAGTTTCTGAACCCAGCCAAGGCCTACCCTGGCCATGAGCTGGACCTCGTTGTGCCCGTCTTCACGTTCCTGCAGTTCTTCTTCTATGTTGGCTGGCTGAAGGTGGGCCTCTCCAGGGCCCTGCTGGGCTGGAGGCATGGCCAGAGGGGTCATGGCCAGCAGCTGCCTGAGACGAGGATGCAGTGTCAGGAAAGGAAGGTCTCACGGGTAGAAAGCAGCCAGGCGTGGTGGCGCACACCTGTAATCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATCGCTTGAACCCGGGAGGCGGAGGTTGTGGTGAGTTGAGATCGTGCCACTGCACTCCAGCCTGGGCAAAAGAATGAAACTCTATCTCAAAAACAACAACAACAACAAAACAAAGCCCTAAGGTTCAGAAGCCCCTGCCCTTTAGAAGGCAGATCGGCACCACCTCTCCTTATTCAAGATGCCTGTTGGGCTGTCTTGTTCCTCACCTCAAGTGGCTTGTCCAGGTATTCCCTCCCACCACAGCCAATACTCCGAACAGATGTTCTGAATCACACAGTTTTCTCTCCACCTCTTTATCTTTCCTTCCTTCTGTTGCCCACCCACTCTCTCTCCCTTCCTACCTTCCTTTATTTTTTGGTAATGGGGGTGTAAGTCTCTGTCTCTGCCCTTCCTGTCACTGTGACACACACACACACACACACACACACACACACATACACACACACACACACGCATTCCTATTCCTCTAAATTCCCCCTGCCCCCCCAGTTATCTTTGGTTTCTGCAGATCAAAACAAATCACACTTTTATGCTTGAAATTCTCCGGGGTGCCCCAGTGGCCTGCAAGATGTCCCCTGGACCCCTAAGGCAGACGCGTGTCACCTCTTCGGGGCTTTGTTAGGGCATTTTAGAGGTTGCTATCCAGGAATCTGCCCACCTAGACTGCCCTTTAGTTCAGCCCAGCTTCAGTATATATCTCTGTTGCATGAATGAATAAAATTATGCAACTCCAGGTAAGATACATGAGGTGAGATAAAGGCAGTGACTCAGCCGAGTGATACACTCAGGGACAGCTGTGGGTGTTCAGGGAAGGACTGGCTCAGAAGAGTTAGAGGGGCTGTGTCCAGAAGTGTGTGGGTGCCCACAAGTGTGGGGGGCTGGAGCCCTAAACTCTGCCTTTGAAGACAGTGGTCAGGCAGGAAGGGCGTCATGGGGTGTGGAAATAGCAGCAGCTGAGGTTTAAAGGGGGAAGCTGGCTTTGAGGAGTTCTGCCTGAGGGTTTACAGAGCCTCACCTGTCCCCAAGGTGGCAGAGCAGCTCATCAACCCCTTTGGAGAGGATGATGATGATTTTGAGACCAACTGGATTGTCGACAGGAATTTGCAGGTATGGGGAGAGGGAGAGAAACCATACCATGGACCTTCCCCAAAGTGGACCCAAAGAGAGGACCCCACTGTTCTGTAGGGAGGCCTCACAGTGAATGATCAACCCTTCCCCTCCTCCCTCCTGCAGCCAGTCATTCACTCACAGGATTCTCACCTCAATCTTTGAGGCTGCAGGCAGGCACCCATCTCCCCATTTCACAGGCAGGGAAACTGAGGTCCAGAGAGAGGGAGAGATTCCTCCAAGTCATCAGGCACATACAAGGTCCTGCCTGGGATGATCTTTCTGTGGGACTTCTTCTGTCCCTGGTGACCAGGTGTCCCTGTTGGCTGTGGATGAGATGCACCAGGACCTGCCTCGGATGGAGCCGGACATGTACTGGAATAAGCCCGAGCCACAGCCCCCCTACACAGCTGCTTCCGCCCAGTTCCGTCGAGCCTCCTTTATGGGCTCCACCTTCAACATCAGGTGTGGCCAGAGCCAGGGGGCTGGGTGGGAAGCCCCTCCTAGTGCAGGGGTCTGCCTAGGAACTTAGAATAGCACTAGTTAATGCATACAGGTTGCTTCAGTAAGTGTCAGGCACTGTACTATGCTCTTTATAAACATTAACTATTTTTTTCCTCCCAATAATTCTGGTTTGTTATCCCAAGTTTTCAGATAATTAAAGTACAGGTTCAGAGAGAGTAAGTTGTCCAAGGCCACATAGCTACCAAATGGTGCATTTGCTACTCGAAGGACAGCCTGTGATCAGTGATGCAGTGGAACGTTAGGACCTGGCTCTTGTCATCCAGAACTATGTTTTCTTTTCTTTTTGAGACAGTATCTCGCTCTGTCGCCCAGGTTGGAGCGCAGTGGCGTGATCTTGGCTCACTGCAACCTCCGCCTCCTGGGTTCAAGTGATTCTCCTGCTTCAGCCTCCCCAGTAGCTGGGATTACAGGTGCCCACAACCACAACTGGCTAATTTTTGTACTTTTAGTAGAGATGAGGTTTCACCATGTTGGCCAGGCTGGTCTCCAACTCCTGACCAGTAATCTGCCCGCTTTGGCCTCCCAAAATGCTGGAATTATAGGTGTCAAAACTATGTTTTCTGATAAGCTACGATGCTTGGATGGGAAGTGGAAGTGGGGTTCCCTGGGATGGGGGAGGGGCAGCAAAGTCCCAGCAGGCAGCCAGGCCATCACAGGTACCTCCTGAATTGACTTTGTCCTACCGAGTAAAGGGCTCAGGCCACCCACAGCAGCCAGACTTATCCCCACATGGTCCCACTTCCCTGATTCCATCTGAATCCCTCTTGAGCTGCAGTGGGCTGAAGGGCTATCCCAGCTGGTCCTTTCTCCCCAGGACAACAGAGTTGAAAGTGCCTTGGAGAGTGTTGGGCACATGTCAGGGTTCATACTCAAGGGTTTCTTCCACGGTATCCAGTGCTGTTCTCGCTTGTTCTTTTCTTTTTTTTTTTTTAAACGGAGTTTCACTCTTGTTGCCCAGAGCTGGAGTGCAGTGGCATAATCTCGGCTCACTGCAACCTCCGCCTCCCAGATTCAAGCAATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTATAGGTGCCAGCCACCAAGCCCGGCTAATTTTTGTATTTTTAGTAGAGACAGTTTCACCATGTTGGCCAGGCTGGTCTCGAACTCCTGACCTCAGGTGATCCACCCTCCTCAGCCTCCCAAAGTGCTGGGATTACATGTGTGAGCCACTGTGCCTGGCTGCTTGTTCTTTTAAGAACCAAATATCCTACTAGACTGCAATCGAGTTTAACTACAGTCTATAGATAGTGTGAGGAAGGGTTGGGAAGGTGATCAAATGAAGGCTGGAGGCTTGCTTAGGTCAGAAACATTTCTGGAGGATGACTTTGAGCCCTACATGGTCTGTACCCCAGCAGCTGAAGGTTGTTGAGGGGTGGGGAGGGCTGAAAACAGAACGATAAAGCATAGACCTTGTCTCCAAGGAATGCACAATTTATGGAGGGAGCTCAAACCCAAGCCTCA
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AACTGAGGCTAGAAGGACCAAGGAAGCAGCTGGGGTGGGAAGGGCTCACCTAGAGGCTAAGTGGCTCCCCTGGGAGTTGGGTCCACACTTTGAAGTTGGGTCTGGACTTTGAAGTGCCAAGTTCTAAGAGTCCAGGCTCCTGCCTGGCCCAGTCCAGTAGAGGCAATGTGATTATCCCCATATTAAAGAGAGGTTGGCCGGGTGCAGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAAGCTGAGGCAGGTGGATCACCTGAGGTCAGGAGTTCGAGACCAGCCTGGCCAACATGGTGAAACCCCATCTCTACTGAAAATACAGAATTAGCTGTGTGGTGGTGCACGCCTGTAATCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATCGCTTGAACCCGGGAGGTGGAGGTTGCAGTGAGCTGAGATCATGCCACTGCACTCCAGCCTGGGCGACACAGCAAGACTCTGTCTCAAACAAACAAACAAACAAACAAACAAAGGGGTTAACAGAGCCCCTAAGTCACATAAGTGTGCAAGTCAGAACAAGGCCTTGGTCTCCTGTCTCAGACTCCCAGCCCCTGGAGCATCCTGATTTCAGGGTTCCCACCTAGCCCTTTGCTACCACATCCTCCTCCTCCTCCCAGGTGGTGACTGTGGCGGTGTACAGCTTCTTCCTGACTTGTCTAGTTGGGCGGCAGTTTCTGAACCCAGCCAAGGCCTACCCTGGCCATGAGCTGGACCTCGTTGTGCCCGTCTTCACGTTCCTGCAGTTCTTCTTCTATGTTGGCTGGCTGAAGGTGGGCCTCTCCAGGGCCCTGCTGGGCTGGAGGCATGGCCAGAGGGGTCATGGCCAGCAGCTGCCTGAGACGAGGATGCAGTGTCAGGAAAGGAAGGTCTCACGGGTAGAAAGCAGCCAGGCGTGGTGGCGCACACCTGTAATCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATCGCTTGAACCCGGGAGGCGGAGGTTGTGGTGAGTTGAGATCGTGCCACTGCACTCCAGCCTGGGCAAAAGAATGAAACTCTATCTCAAAAACAACAACAACAACAAAACAAAGCCCTAAGGTTCAGAAGCCCCTGCCCTTTAGAAGGCAGATCGGCACCACCTCTCCTTATTCAAGATGCCTGTTGGGCTGTCTTGTTCCTCACCTCAAGTGGCTTGTCCAGGTATTCCCTCCCACCACAGCCAATACTCCGAACAGATGTTCTGAATCACACAGTTTTCTCTCCACCTCTTTATCTTTCCTTCCTTCTGTTGCCCACCCACTCTCTCTCCCTTCCTACCTTCCTTTATTTTTTGGTAATGGGGGTGTAAGTCTCTGTCTCTGCCCTTCCTGTCACTGTGACACACACACACACACACACACACACACACACATACACACACACACACACGCATTCCTATTCCTCTAAATTCCCCCTGCCCCCCCAGTTATCTTTGGTTTCTGCAGATCAAAACAAATCACACTTTTATGCTTGAAATTCTCCGGGGTGCCCCAGTGGCCTGCAAGATGTCCCCTGGACCCCTAAGGCAGACGCGTGTCACCTCTTCGGGGCTTTGTTAGGGCATTTTAGAGGTTGCTATCCAGGAATCTGCCCACCTAGACTGCCCTTTAGTTCAGCCCAGCTTCAGTATATATCTCTGTTGCATGAATGAATAAAATTATGCAACTCCAGGTAAGATACATGAGGTGAGATAAAGGCAGTGACTCAGCCGAGTGATACACTCAGGGACAGCTGTGGGTGTTCAGGGAAGGACTGGCTCAGAAGAGTTAGAGGGGCTGTGTCCAGAAGTGTGTGGGTGCCCACAAGTGTGGGGGGCTGGAGCCCTAAACTCTGCCTTTGAAGACAGTGGTCAGGCAGGAAGGGCGTCATGGGGTGTGGAAATAGCAGCAGCTGAGGTTTAAAGGGGGAAGCTGGCTTTGAGGAGTTCTGCCTGAGGGTTTACAGAGCCTCACCTGTCCCCAAGGTGGCAGAGCAGCTCATCAACCCCTTTGGAGAGGATGATGATGATTTTGATACCAACTGGATTGTCGACAGGAATTTGCAGGTATGGGGAGAGGGAGAGAAACCATACCATGGACCTTCCCCAAAGTGGACCCAAAGAGAGGACCCCACTGTTCTGTAGGGAGGCCTCACAGTGAATGATCAACCCTTCCCCTCCTCCCTCCTGCAGCCAGTCATTCACTCACAGGATTCTCACCTCAATCTTTGAGGCTGCAGGCAGGCACCCATCTCCCCATTTCACAGGCAGGGAAACTGAGGTCCAGAGAGAGGGAGAGATTCCTCCAAGTCATCAGGCACATACAAGGTCCTGCCTGGGATGATCTTTCTGTGGGACTTCTTCTGTCCCTGGTGACCAGGTGTCCCTGTTGGCTGTGGATGAGATGCACCAGGACCTGCCTCGGATGGAGCCGGACATGTACTGGAATAAGCCCGAGCCACAGCCCCCCTACACAGCTGCTTCCGCCCAGTTCCGTCGAGCCTCCTTTATGGGCTCCACCTTCAACATCAGGTGTGGCCAGAGCCAGGGGGCTGGGTGGGAAGCCCCTCCTAGTGCAGGGGTCTGCCTAGGAACTTAGAATAGCACTAGTTAATGCATACAGGTTGCTTCAGTAAGTGTCAGGCACTGTACTATGCTCTTTATAAACATTAACTATTTTTTTCCTCCCAATAATTCTGGTTTGTTATCCCAAGTTTTCAGATAATTAAAGTACAGGTTCAGAGAGAGTAAGTTGTCCAAGGCCACATAGCTACCAAATGGTGCATTTGCTACTCGAAGGACAGCCTGTGATCAGTGATGCAGTGGAACGTTAGGACCTGGCTCTTGTCATCCAGAACTATGTTTTCTTTTCTTTTTGAGACAGTATCTCGCTCTGTCGCCCAGGTTGGAGCGCAGTGGCGTGATCTTGGCTCACTGCAACCTCCGCCTCCTGGGTTCAAGTGATTCTCCTGCTTCAGCCTCCCCAGTAGCTGGGATTACAGGTGCCCACAACCACAACTGGCTAATTTTTGTACTTTTAGTAGAGATGAGGTTTCACCATGTTGGCCAGGCTGGTCTCCAACTCCTGACCAGTAATCTGCCCGCTTTGGCCTCCCAAAATGCTGGAATTATAGGTGTCAAAACTATGTTTTCTGATAAGCTACGATGCTTGGATGGGAAGTGGAAGTGGGGTTCCCTGGGATGGGGGAGGGGCAGCAAAGTCCCAGCAGGCAGCCAGGCCATCACAGGTACCTCCTGAATTGACTTTGTCCTACCGAGTAAAGGGCTCAGGCCACCCACAGCAGCCAGACTTATCCCCACATGGTCCCACTTCCCTGATTCCATCTGAATCCCTCTTGAGCTGCAGTGGGCTGAAGGGCTATCCCAGCTGGTCCTTTCTCCCCAGGACAACAGAGTTGAAAGTGCCTTGGAGAGTGTTGGGCACATGTCAGGGTTCATACTCAAGGGTTTCTTCCACGGTATCCAGTGCTGTTCTCGCTTGTTCTTTTCTTTTTTTTTTTTTAAACGGAGTTTCACTCTTGTTGCCCAGAGCTGGAGTGCAGTGGCATAATCTCGGCTCACTGCAACCTCCGCCTCCCAGATTCAAGCAATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTATAGGTGCCAGCCACCAAGCCCGGCTAATTTTTGTATTTTTAGTAGAGACAGTTTCACCATGTTGGCCAGGCTGGTCTCGAACTCCTGACCTCAGGTGATCCACCCTCCTCAGCCTCCCAAAGTGCTGGGATTACATGTGTGAGCCACTGTGCCTGGCTGCTTGTTCTTTTAAGAACCAAATATCCTACTAGACTGCAATCGAGTTTAACTACAGTCTATAGATAGTGTGAGGAAGGGTTGGGAAGGTGATCAAATGAAGGCTGGAGGCTTGCTTAGGTCAGAAACATTTCTGGAGGATGACTTTGAGCCCTACATGGTCTGTACCCCAGCAGCTGAAGGTTGTTGAGGGGTGGGGAGGGCTGAAAACAGAACGATAAAGCATAGACCTTGTCTCCAAGGAATGCACAATTTATGGAGGGAGCTCAAACCCAAGCCTCA
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Task1_train_15963
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This variant impacts the gene BEST1 (bestrophin 1) on Chromosome 11. Is the change likely to result in a pathogenic outcome?
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Pathogenic; Retinal dystrophy
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CTGAGGCTAGAAGGACCAAGGAAGCAGCTGGGGTGGGAAGGGCTCACCTAGAGGCTAAGTGGCTCCCCTGGGAGTTGGGTCCACACTTTGAAGTTGGGTCTGGACTTTGAAGTGCCAAGTTCTAAGAGTCCAGGCTCCTGCCTGGCCCAGTCCAGTAGAGGCAATGTGATTATCCCCATATTAAAGAGAGGTTGGCCGGGTGCAGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAAGCTGAGGCAGGTGGATCACCTGAGGTCAGGAGTTCGAGACCAGCCTGGCCAACATGGTGAAACCCCATCTCTACTGAAAATACAGAATTAGCTGTGTGGTGGTGCACGCCTGTAATCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATCGCTTGAACCCGGGAGGTGGAGGTTGCAGTGAGCTGAGATCATGCCACTGCACTCCAGCCTGGGCGACACAGCAAGACTCTGTCTCAAACAAACAAACAAACAAACAAACAAAGGGGTTAACAGAGCCCCTAAGTCACATAAGTGTGCAAGTCAGAACAAGGCCTTGGTCTCCTGTCTCAGACTCCCAGCCCCTGGAGCATCCTGATTTCAGGGTTCCCACCTAGCCCTTTGCTACCACATCCTCCTCCTCCTCCCAGGTGGTGACTGTGGCGGTGTACAGCTTCTTCCTGACTTGTCTAGTTGGGCGGCAGTTTCTGAACCCAGCCAAGGCCTACCCTGGCCATGAGCTGGACCTCGTTGTGCCCGTCTTCACGTTCCTGCAGTTCTTCTTCTATGTTGGCTGGCTGAAGGTGGGCCTCTCCAGGGCCCTGCTGGGCTGGAGGCATGGCCAGAGGGGTCATGGCCAGCAGCTGCCTGAGACGAGGATGCAGTGTCAGGAAAGGAAGGTCTCACGGGTAGAAAGCAGCCAGGCGTGGTGGCGCACACCTGTAATCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATCGCTTGAACCCGGGAGGCGGAGGTTGTGGTGAGTTGAGATCGTGCCACTGCACTCCAGCCTGGGCAAAAGAATGAAACTCTATCTCAAAAACAACAACAACAACAAAACAAAGCCCTAAGGTTCAGAAGCCCCTGCCCTTTAGAAGGCAGATCGGCACCACCTCTCCTTATTCAAGATGCCTGTTGGGCTGTCTTGTTCCTCACCTCAAGTGGCTTGTCCAGGTATTCCCTCCCACCACAGCCAATACTCCGAACAGATGTTCTGAATCACACAGTTTTCTCTCCACCTCTTTATCTTTCCTTCCTTCTGTTGCCCACCCACTCTCTCTCCCTTCCTACCTTCCTTTATTTTTTGGTAATGGGGGTGTAAGTCTCTGTCTCTGCCCTTCCTGTCACTGTGACACACACACACACACACACACACACACACACATACACACACACACACACGCATTCCTATTCCTCTAAATTCCCCCTGCCCCCCCAGTTATCTTTGGTTTCTGCAGATCAAAACAAATCACACTTTTATGCTTGAAATTCTCCGGGGTGCCCCAGTGGCCTGCAAGATGTCCCCTGGACCCCTAAGGCAGACGCGTGTCACCTCTTCGGGGCTTTGTTAGGGCATTTTAGAGGTTGCTATCCAGGAATCTGCCCACCTAGACTGCCCTTTAGTTCAGCCCAGCTTCAGTATATATCTCTGTTGCATGAATGAATAAAATTATGCAACTCCAGGTAAGATACATGAGGTGAGATAAAGGCAGTGACTCAGCCGAGTGATACACTCAGGGACAGCTGTGGGTGTTCAGGGAAGGACTGGCTCAGAAGAGTTAGAGGGGCTGTGTCCAGAAGTGTGTGGGTGCCCACAAGTGTGGGGGGCTGGAGCCCTAAACTCTGCCTTTGAAGACAGTGGTCAGGCAGGAAGGGCGTCATGGGGTGTGGAAATAGCAGCAGCTGAGGTTTAAAGGGGGAAGCTGGCTTTGAGGAGTTCTGCCTGAGGGTTTACAGAGCCTCACCTGTCCCCAAGGTGGCAGAGCAGCTCATCAACCCCTTTGGAGAGGATGATGATGATTTTGAGACCAACTGGATTGTCGACAGGAATTTGCAGGTATGGGGAGAGGGAGAGAAACCATACCATGGACCTTCCCCAAAGTGGACCCAAAGAGAGGACCCCACTGTTCTGTAGGGAGGCCTCACAGTGAATGATCAACCCTTCCCCTCCTCCCTCCTGCAGCCAGTCATTCACTCACAGGATTCTCACCTCAATCTTTGAGGCTGCAGGCAGGCACCCATCTCCCCATTTCACAGGCAGGGAAACTGAGGTCCAGAGAGAGGGAGAGATTCCTCCAAGTCATCAGGCACATACAAGGTCCTGCCTGGGATGATCTTTCTGTGGGACTTCTTCTGTCCCTGGTGACCAGGTGTCCCTGTTGGCTGTGGATGAGATGCACCAGGACCTGCCTCGGATGGAGCCGGACATGTACTGGAATAAGCCCGAGCCACAGCCCCCCTACACAGCTGCTTCCGCCCAGTTCCGTCGAGCCTCCTTTATGGGCTCCACCTTCAACATCAGGTGTGGCCAGAGCCAGGGGGCTGGGTGGGAAGCCCCTCCTAGTGCAGGGGTCTGCCTAGGAACTTAGAATAGCACTAGTTAATGCATACAGGTTGCTTCAGTAAGTGTCAGGCACTGTACTATGCTCTTTATAAACATTAACTATTTTTTTCCTCCCAATAATTCTGGTTTGTTATCCCAAGTTTTCAGATAATTAAAGTACAGGTTCAGAGAGAGTAAGTTGTCCAAGGCCACATAGCTACCAAATGGTGCATTTGCTACTCGAAGGACAGCCTGTGATCAGTGATGCAGTGGAACGTTAGGACCTGGCTCTTGTCATCCAGAACTATGTTTTCTTTTCTTTTTGAGACAGTATCTCGCTCTGTCGCCCAGGTTGGAGCGCAGTGGCGTGATCTTGGCTCACTGCAACCTCCGCCTCCTGGGTTCAAGTGATTCTCCTGCTTCAGCCTCCCCAGTAGCTGGGATTACAGGTGCCCACAACCACAACTGGCTAATTTTTGTACTTTTAGTAGAGATGAGGTTTCACCATGTTGGCCAGGCTGGTCTCCAACTCCTGACCAGTAATCTGCCCGCTTTGGCCTCCCAAAATGCTGGAATTATAGGTGTCAAAACTATGTTTTCTGATAAGCTACGATGCTTGGATGGGAAGTGGAAGTGGGGTTCCCTGGGATGGGGGAGGGGCAGCAAAGTCCCAGCAGGCAGCCAGGCCATCACAGGTACCTCCTGAATTGACTTTGTCCTACCGAGTAAAGGGCTCAGGCCACCCACAGCAGCCAGACTTATCCCCACATGGTCCCACTTCCCTGATTCCATCTGAATCCCTCTTGAGCTGCAGTGGGCTGAAGGGCTATCCCAGCTGGTCCTTTCTCCCCAGGACAACAGAGTTGAAAGTGCCTTGGAGAGTGTTGGGCACATGTCAGGGTTCATACTCAAGGGTTTCTTCCACGGTATCCAGTGCTGTTCTCGCTTGTTCTTTTCTTTTTTTTTTTTTAAACGGAGTTTCACTCTTGTTGCCCAGAGCTGGAGTGCAGTGGCATAATCTCGGCTCACTGCAACCTCCGCCTCCCAGATTCAAGCAATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTATAGGTGCCAGCCACCAAGCCCGGCTAATTTTTGTATTTTTAGTAGAGACAGTTTCACCATGTTGGCCAGGCTGGTCTCGAACTCCTGACCTCAGGTGATCCACCCTCCTCAGCCTCCCAAAGTGCTGGGATTACATGTGTGAGCCACTGTGCCTGGCTGCTTGTTCTTTTAAGAACCAAATATCCTACTAGACTGCAATCGAGTTTAACTACAGTCTATAGATAGTGTGAGGAAGGGTTGGGAAGGTGATCAAATGAAGGCTGGAGGCTTGCTTAGGTCAGAAACATTTCTGGAGGATGACTTTGAGCCCTACATGGTCTGTACCCCAGCAGCTGAAGGTTGTTGAGGGGTGGGGAGGGCTGAAAACAGAACGATAAAGCATAGACCTTGTCTCCAAGGAATGCACAATTTATGGAGGGAGCTCAAACCCAAGCCTCAAA
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CTGAGGCTAGAAGGACCAAGGAAGCAGCTGGGGTGGGAAGGGCTCACCTAGAGGCTAAGTGGCTCCCCTGGGAGTTGGGTCCACACTTTGAAGTTGGGTCTGGACTTTGAAGTGCCAAGTTCTAAGAGTCCAGGCTCCTGCCTGGCCCAGTCCAGTAGAGGCAATGTGATTATCCCCATATTAAAGAGAGGTTGGCCGGGTGCAGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAAGCTGAGGCAGGTGGATCACCTGAGGTCAGGAGTTCGAGACCAGCCTGGCCAACATGGTGAAACCCCATCTCTACTGAAAATACAGAATTAGCTGTGTGGTGGTGCACGCCTGTAATCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATCGCTTGAACCCGGGAGGTGGAGGTTGCAGTGAGCTGAGATCATGCCACTGCACTCCAGCCTGGGCGACACAGCAAGACTCTGTCTCAAACAAACAAACAAACAAACAAACAAAGGGGTTAACAGAGCCCCTAAGTCACATAAGTGTGCAAGTCAGAACAAGGCCTTGGTCTCCTGTCTCAGACTCCCAGCCCCTGGAGCATCCTGATTTCAGGGTTCCCACCTAGCCCTTTGCTACCACATCCTCCTCCTCCTCCCAGGTGGTGACTGTGGCGGTGTACAGCTTCTTCCTGACTTGTCTAGTTGGGCGGCAGTTTCTGAACCCAGCCAAGGCCTACCCTGGCCATGAGCTGGACCTCGTTGTGCCCGTCTTCACGTTCCTGCAGTTCTTCTTCTATGTTGGCTGGCTGAAGGTGGGCCTCTCCAGGGCCCTGCTGGGCTGGAGGCATGGCCAGAGGGGTCATGGCCAGCAGCTGCCTGAGACGAGGATGCAGTGTCAGGAAAGGAAGGTCTCACGGGTAGAAAGCAGCCAGGCGTGGTGGCGCACACCTGTAATCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATCGCTTGAACCCGGGAGGCGGAGGTTGTGGTGAGTTGAGATCGTGCCACTGCACTCCAGCCTGGGCAAAAGAATGAAACTCTATCTCAAAAACAACAACAACAACAAAACAAAGCCCTAAGGTTCAGAAGCCCCTGCCCTTTAGAAGGCAGATCGGCACCACCTCTCCTTATTCAAGATGCCTGTTGGGCTGTCTTGTTCCTCACCTCAAGTGGCTTGTCCAGGTATTCCCTCCCACCACAGCCAATACTCCGAACAGATGTTCTGAATCACACAGTTTTCTCTCCACCTCTTTATCTTTCCTTCCTTCTGTTGCCCACCCACTCTCTCTCCCTTCCTACCTTCCTTTATTTTTTGGTAATGGGGGTGTAAGTCTCTGTCTCTGCCCTTCCTGTCACTGTGACACACACACACACACACACACACACACACACATACACACACACACACACGCATTCCTATTCCTCTAAATTCCCCCTGCCCCCCCAGTTATCTTTGGTTTCTGCAGATCAAAACAAATCACACTTTTATGCTTGAAATTCTCCGGGGTGCCCCAGTGGCCTGCAAGATGTCCCCTGGACCCCTAAGGCAGACGCGTGTCACCTCTTCGGGGCTTTGTTAGGGCATTTTAGAGGTTGCTATCCAGGAATCTGCCCACCTAGACTGCCCTTTAGTTCAGCCCAGCTTCAGTATATATCTCTGTTGCATGAATGAATAAAATTATGCAACTCCAGGTAAGATACATGAGGTGAGATAAAGGCAGTGACTCAGCCGAGTGATACACTCAGGGACAGCTGTGGGTGTTCAGGGAAGGACTGGCTCAGAAGAGTTAGAGGGGCTGTGTCCAGAAGTGTGTGGGTGCCCACAAGTGTGGGGGGCTGGAGCCCTAAACTCTGCCTTTGAAGACAGTGGTCAGGCAGGAAGGGCGTCATGGGGTGTGGAAATAGCAGCAGCTGAGGTTTAAAGGGGGAAGCTGGCTTTGAGGAGTTCTGCCTGAGGGTTTACAGAGCCTCACCTGTCCCCAAGGTGGCAGAGCAGCTCATCAACCCCTTTGGAGAGGATGATGATGATTTTGAGAACAACTGGATTGTCGACAGGAATTTGCAGGTATGGGGAGAGGGAGAGAAACCATACCATGGACCTTCCCCAAAGTGGACCCAAAGAGAGGACCCCACTGTTCTGTAGGGAGGCCTCACAGTGAATGATCAACCCTTCCCCTCCTCCCTCCTGCAGCCAGTCATTCACTCACAGGATTCTCACCTCAATCTTTGAGGCTGCAGGCAGGCACCCATCTCCCCATTTCACAGGCAGGGAAACTGAGGTCCAGAGAGAGGGAGAGATTCCTCCAAGTCATCAGGCACATACAAGGTCCTGCCTGGGATGATCTTTCTGTGGGACTTCTTCTGTCCCTGGTGACCAGGTGTCCCTGTTGGCTGTGGATGAGATGCACCAGGACCTGCCTCGGATGGAGCCGGACATGTACTGGAATAAGCCCGAGCCACAGCCCCCCTACACAGCTGCTTCCGCCCAGTTCCGTCGAGCCTCCTTTATGGGCTCCACCTTCAACATCAGGTGTGGCCAGAGCCAGGGGGCTGGGTGGGAAGCCCCTCCTAGTGCAGGGGTCTGCCTAGGAACTTAGAATAGCACTAGTTAATGCATACAGGTTGCTTCAGTAAGTGTCAGGCACTGTACTATGCTCTTTATAAACATTAACTATTTTTTTCCTCCCAATAATTCTGGTTTGTTATCCCAAGTTTTCAGATAATTAAAGTACAGGTTCAGAGAGAGTAAGTTGTCCAAGGCCACATAGCTACCAAATGGTGCATTTGCTACTCGAAGGACAGCCTGTGATCAGTGATGCAGTGGAACGTTAGGACCTGGCTCTTGTCATCCAGAACTATGTTTTCTTTTCTTTTTGAGACAGTATCTCGCTCTGTCGCCCAGGTTGGAGCGCAGTGGCGTGATCTTGGCTCACTGCAACCTCCGCCTCCTGGGTTCAAGTGATTCTCCTGCTTCAGCCTCCCCAGTAGCTGGGATTACAGGTGCCCACAACCACAACTGGCTAATTTTTGTACTTTTAGTAGAGATGAGGTTTCACCATGTTGGCCAGGCTGGTCTCCAACTCCTGACCAGTAATCTGCCCGCTTTGGCCTCCCAAAATGCTGGAATTATAGGTGTCAAAACTATGTTTTCTGATAAGCTACGATGCTTGGATGGGAAGTGGAAGTGGGGTTCCCTGGGATGGGGGAGGGGCAGCAAAGTCCCAGCAGGCAGCCAGGCCATCACAGGTACCTCCTGAATTGACTTTGTCCTACCGAGTAAAGGGCTCAGGCCACCCACAGCAGCCAGACTTATCCCCACATGGTCCCACTTCCCTGATTCCATCTGAATCCCTCTTGAGCTGCAGTGGGCTGAAGGGCTATCCCAGCTGGTCCTTTCTCCCCAGGACAACAGAGTTGAAAGTGCCTTGGAGAGTGTTGGGCACATGTCAGGGTTCATACTCAAGGGTTTCTTCCACGGTATCCAGTGCTGTTCTCGCTTGTTCTTTTCTTTTTTTTTTTTTAAACGGAGTTTCACTCTTGTTGCCCAGAGCTGGAGTGCAGTGGCATAATCTCGGCTCACTGCAACCTCCGCCTCCCAGATTCAAGCAATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTATAGGTGCCAGCCACCAAGCCCGGCTAATTTTTGTATTTTTAGTAGAGACAGTTTCACCATGTTGGCCAGGCTGGTCTCGAACTCCTGACCTCAGGTGATCCACCCTCCTCAGCCTCCCAAAGTGCTGGGATTACATGTGTGAGCCACTGTGCCTGGCTGCTTGTTCTTTTAAGAACCAAATATCCTACTAGACTGCAATCGAGTTTAACTACAGTCTATAGATAGTGTGAGGAAGGGTTGGGAAGGTGATCAAATGAAGGCTGGAGGCTTGCTTAGGTCAGAAACATTTCTGGAGGATGACTTTGAGCCCTACATGGTCTGTACCCCAGCAGCTGAAGGTTGTTGAGGGGTGGGGAGGGCTGAAAACAGAACGATAAAGCATAGACCTTGTCTCCAAGGAATGCACAATTTATGGAGGGAGCTCAAACCCAAGCCTCAAA
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Task1_train_15964
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Consider a variant on Chromosome 11 in gene BEST1 (bestrophin 1). Determine its clinical classification and disease relevance.
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Pathogenic; Retinal dystrophy
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GCTAGAAGGACCAAGGAAGCAGCTGGGGTGGGAAGGGCTCACCTAGAGGCTAAGTGGCTCCCCTGGGAGTTGGGTCCACACTTTGAAGTTGGGTCTGGACTTTGAAGTGCCAAGTTCTAAGAGTCCAGGCTCCTGCCTGGCCCAGTCCAGTAGAGGCAATGTGATTATCCCCATATTAAAGAGAGGTTGGCCGGGTGCAGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAAGCTGAGGCAGGTGGATCACCTGAGGTCAGGAGTTCGAGACCAGCCTGGCCAACATGGTGAAACCCCATCTCTACTGAAAATACAGAATTAGCTGTGTGGTGGTGCACGCCTGTAATCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATCGCTTGAACCCGGGAGGTGGAGGTTGCAGTGAGCTGAGATCATGCCACTGCACTCCAGCCTGGGCGACACAGCAAGACTCTGTCTCAAACAAACAAACAAACAAACAAACAAAGGGGTTAACAGAGCCCCTAAGTCACATAAGTGTGCAAGTCAGAACAAGGCCTTGGTCTCCTGTCTCAGACTCCCAGCCCCTGGAGCATCCTGATTTCAGGGTTCCCACCTAGCCCTTTGCTACCACATCCTCCTCCTCCTCCCAGGTGGTGACTGTGGCGGTGTACAGCTTCTTCCTGACTTGTCTAGTTGGGCGGCAGTTTCTGAACCCAGCCAAGGCCTACCCTGGCCATGAGCTGGACCTCGTTGTGCCCGTCTTCACGTTCCTGCAGTTCTTCTTCTATGTTGGCTGGCTGAAGGTGGGCCTCTCCAGGGCCCTGCTGGGCTGGAGGCATGGCCAGAGGGGTCATGGCCAGCAGCTGCCTGAGACGAGGATGCAGTGTCAGGAAAGGAAGGTCTCACGGGTAGAAAGCAGCCAGGCGTGGTGGCGCACACCTGTAATCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATCGCTTGAACCCGGGAGGCGGAGGTTGTGGTGAGTTGAGATCGTGCCACTGCACTCCAGCCTGGGCAAAAGAATGAAACTCTATCTCAAAAACAACAACAACAACAAAACAAAGCCCTAAGGTTCAGAAGCCCCTGCCCTTTAGAAGGCAGATCGGCACCACCTCTCCTTATTCAAGATGCCTGTTGGGCTGTCTTGTTCCTCACCTCAAGTGGCTTGTCCAGGTATTCCCTCCCACCACAGCCAATACTCCGAACAGATGTTCTGAATCACACAGTTTTCTCTCCACCTCTTTATCTTTCCTTCCTTCTGTTGCCCACCCACTCTCTCTCCCTTCCTACCTTCCTTTATTTTTTGGTAATGGGGGTGTAAGTCTCTGTCTCTGCCCTTCCTGTCACTGTGACACACACACACACACACACACACACACACACATACACACACACACACACGCATTCCTATTCCTCTAAATTCCCCCTGCCCCCCCAGTTATCTTTGGTTTCTGCAGATCAAAACAAATCACACTTTTATGCTTGAAATTCTCCGGGGTGCCCCAGTGGCCTGCAAGATGTCCCCTGGACCCCTAAGGCAGACGCGTGTCACCTCTTCGGGGCTTTGTTAGGGCATTTTAGAGGTTGCTATCCAGGAATCTGCCCACCTAGACTGCCCTTTAGTTCAGCCCAGCTTCAGTATATATCTCTGTTGCATGAATGAATAAAATTATGCAACTCCAGGTAAGATACATGAGGTGAGATAAAGGCAGTGACTCAGCCGAGTGATACACTCAGGGACAGCTGTGGGTGTTCAGGGAAGGACTGGCTCAGAAGAGTTAGAGGGGCTGTGTCCAGAAGTGTGTGGGTGCCCACAAGTGTGGGGGGCTGGAGCCCTAAACTCTGCCTTTGAAGACAGTGGTCAGGCAGGAAGGGCGTCATGGGGTGTGGAAATAGCAGCAGCTGAGGTTTAAAGGGGGAAGCTGGCTTTGAGGAGTTCTGCCTGAGGGTTTACAGAGCCTCACCTGTCCCCAAGGTGGCAGAGCAGCTCATCAACCCCTTTGGAGAGGATGATGATGATTTTGAGACCAACTGGATTGTCGACAGGAATTTGCAGGTATGGGGAGAGGGAGAGAAACCATACCATGGACCTTCCCCAAAGTGGACCCAAAGAGAGGACCCCACTGTTCTGTAGGGAGGCCTCACAGTGAATGATCAACCCTTCCCCTCCTCCCTCCTGCAGCCAGTCATTCACTCACAGGATTCTCACCTCAATCTTTGAGGCTGCAGGCAGGCACCCATCTCCCCATTTCACAGGCAGGGAAACTGAGGTCCAGAGAGAGGGAGAGATTCCTCCAAGTCATCAGGCACATACAAGGTCCTGCCTGGGATGATCTTTCTGTGGGACTTCTTCTGTCCCTGGTGACCAGGTGTCCCTGTTGGCTGTGGATGAGATGCACCAGGACCTGCCTCGGATGGAGCCGGACATGTACTGGAATAAGCCCGAGCCACAGCCCCCCTACACAGCTGCTTCCGCCCAGTTCCGTCGAGCCTCCTTTATGGGCTCCACCTTCAACATCAGGTGTGGCCAGAGCCAGGGGGCTGGGTGGGAAGCCCCTCCTAGTGCAGGGGTCTGCCTAGGAACTTAGAATAGCACTAGTTAATGCATACAGGTTGCTTCAGTAAGTGTCAGGCACTGTACTATGCTCTTTATAAACATTAACTATTTTTTTCCTCCCAATAATTCTGGTTTGTTATCCCAAGTTTTCAGATAATTAAAGTACAGGTTCAGAGAGAGTAAGTTGTCCAAGGCCACATAGCTACCAAATGGTGCATTTGCTACTCGAAGGACAGCCTGTGATCAGTGATGCAGTGGAACGTTAGGACCTGGCTCTTGTCATCCAGAACTATGTTTTCTTTTCTTTTTGAGACAGTATCTCGCTCTGTCGCCCAGGTTGGAGCGCAGTGGCGTGATCTTGGCTCACTGCAACCTCCGCCTCCTGGGTTCAAGTGATTCTCCTGCTTCAGCCTCCCCAGTAGCTGGGATTACAGGTGCCCACAACCACAACTGGCTAATTTTTGTACTTTTAGTAGAGATGAGGTTTCACCATGTTGGCCAGGCTGGTCTCCAACTCCTGACCAGTAATCTGCCCGCTTTGGCCTCCCAAAATGCTGGAATTATAGGTGTCAAAACTATGTTTTCTGATAAGCTACGATGCTTGGATGGGAAGTGGAAGTGGGGTTCCCTGGGATGGGGGAGGGGCAGCAAAGTCCCAGCAGGCAGCCAGGCCATCACAGGTACCTCCTGAATTGACTTTGTCCTACCGAGTAAAGGGCTCAGGCCACCCACAGCAGCCAGACTTATCCCCACATGGTCCCACTTCCCTGATTCCATCTGAATCCCTCTTGAGCTGCAGTGGGCTGAAGGGCTATCCCAGCTGGTCCTTTCTCCCCAGGACAACAGAGTTGAAAGTGCCTTGGAGAGTGTTGGGCACATGTCAGGGTTCATACTCAAGGGTTTCTTCCACGGTATCCAGTGCTGTTCTCGCTTGTTCTTTTCTTTTTTTTTTTTTAAACGGAGTTTCACTCTTGTTGCCCAGAGCTGGAGTGCAGTGGCATAATCTCGGCTCACTGCAACCTCCGCCTCCCAGATTCAAGCAATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTATAGGTGCCAGCCACCAAGCCCGGCTAATTTTTGTATTTTTAGTAGAGACAGTTTCACCATGTTGGCCAGGCTGGTCTCGAACTCCTGACCTCAGGTGATCCACCCTCCTCAGCCTCCCAAAGTGCTGGGATTACATGTGTGAGCCACTGTGCCTGGCTGCTTGTTCTTTTAAGAACCAAATATCCTACTAGACTGCAATCGAGTTTAACTACAGTCTATAGATAGTGTGAGGAAGGGTTGGGAAGGTGATCAAATGAAGGCTGGAGGCTTGCTTAGGTCAGAAACATTTCTGGAGGATGACTTTGAGCCCTACATGGTCTGTACCCCAGCAGCTGAAGGTTGTTGAGGGGTGGGGAGGGCTGAAAACAGAACGATAAAGCATAGACCTTGTCTCCAAGGAATGCACAATTTATGGAGGGAGCTCAAACCCAAGCCTCAAACTCTG
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GCTAGAAGGACCAAGGAAGCAGCTGGGGTGGGAAGGGCTCACCTAGAGGCTAAGTGGCTCCCCTGGGAGTTGGGTCCACACTTTGAAGTTGGGTCTGGACTTTGAAGTGCCAAGTTCTAAGAGTCCAGGCTCCTGCCTGGCCCAGTCCAGTAGAGGCAATGTGATTATCCCCATATTAAAGAGAGGTTGGCCGGGTGCAGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAAGCTGAGGCAGGTGGATCACCTGAGGTCAGGAGTTCGAGACCAGCCTGGCCAACATGGTGAAACCCCATCTCTACTGAAAATACAGAATTAGCTGTGTGGTGGTGCACGCCTGTAATCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATCGCTTGAACCCGGGAGGTGGAGGTTGCAGTGAGCTGAGATCATGCCACTGCACTCCAGCCTGGGCGACACAGCAAGACTCTGTCTCAAACAAACAAACAAACAAACAAACAAAGGGGTTAACAGAGCCCCTAAGTCACATAAGTGTGCAAGTCAGAACAAGGCCTTGGTCTCCTGTCTCAGACTCCCAGCCCCTGGAGCATCCTGATTTCAGGGTTCCCACCTAGCCCTTTGCTACCACATCCTCCTCCTCCTCCCAGGTGGTGACTGTGGCGGTGTACAGCTTCTTCCTGACTTGTCTAGTTGGGCGGCAGTTTCTGAACCCAGCCAAGGCCTACCCTGGCCATGAGCTGGACCTCGTTGTGCCCGTCTTCACGTTCCTGCAGTTCTTCTTCTATGTTGGCTGGCTGAAGGTGGGCCTCTCCAGGGCCCTGCTGGGCTGGAGGCATGGCCAGAGGGGTCATGGCCAGCAGCTGCCTGAGACGAGGATGCAGTGTCAGGAAAGGAAGGTCTCACGGGTAGAAAGCAGCCAGGCGTGGTGGCGCACACCTGTAATCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATCGCTTGAACCCGGGAGGCGGAGGTTGTGGTGAGTTGAGATCGTGCCACTGCACTCCAGCCTGGGCAAAAGAATGAAACTCTATCTCAAAAACAACAACAACAACAAAACAAAGCCCTAAGGTTCAGAAGCCCCTGCCCTTTAGAAGGCAGATCGGCACCACCTCTCCTTATTCAAGATGCCTGTTGGGCTGTCTTGTTCCTCACCTCAAGTGGCTTGTCCAGGTATTCCCTCCCACCACAGCCAATACTCCGAACAGATGTTCTGAATCACACAGTTTTCTCTCCACCTCTTTATCTTTCCTTCCTTCTGTTGCCCACCCACTCTCTCTCCCTTCCTACCTTCCTTTATTTTTTGGTAATGGGGGTGTAAGTCTCTGTCTCTGCCCTTCCTGTCACTGTGACACACACACACACACACACACACACACACACATACACACACACACACACGCATTCCTATTCCTCTAAATTCCCCCTGCCCCCCCAGTTATCTTTGGTTTCTGCAGATCAAAACAAATCACACTTTTATGCTTGAAATTCTCCGGGGTGCCCCAGTGGCCTGCAAGATGTCCCCTGGACCCCTAAGGCAGACGCGTGTCACCTCTTCGGGGCTTTGTTAGGGCATTTTAGAGGTTGCTATCCAGGAATCTGCCCACCTAGACTGCCCTTTAGTTCAGCCCAGCTTCAGTATATATCTCTGTTGCATGAATGAATAAAATTATGCAACTCCAGGTAAGATACATGAGGTGAGATAAAGGCAGTGACTCAGCCGAGTGATACACTCAGGGACAGCTGTGGGTGTTCAGGGAAGGACTGGCTCAGAAGAGTTAGAGGGGCTGTGTCCAGAAGTGTGTGGGTGCCCACAAGTGTGGGGGGCTGGAGCCCTAAACTCTGCCTTTGAAGACAGTGGTCAGGCAGGAAGGGCGTCATGGGGTGTGGAAATAGCAGCAGCTGAGGTTTAAAGGGGGAAGCTGGCTTTGAGGAGTTCTGCCTGAGGGTTTACAGAGCCTCACCTGTCCCCAAGGTGGCAGAGCAGCTCATCAACCCCTTTGGAGAGGATGATGATGATTTTGAGACCAACCGGATTGTCGACAGGAATTTGCAGGTATGGGGAGAGGGAGAGAAACCATACCATGGACCTTCCCCAAAGTGGACCCAAAGAGAGGACCCCACTGTTCTGTAGGGAGGCCTCACAGTGAATGATCAACCCTTCCCCTCCTCCCTCCTGCAGCCAGTCATTCACTCACAGGATTCTCACCTCAATCTTTGAGGCTGCAGGCAGGCACCCATCTCCCCATTTCACAGGCAGGGAAACTGAGGTCCAGAGAGAGGGAGAGATTCCTCCAAGTCATCAGGCACATACAAGGTCCTGCCTGGGATGATCTTTCTGTGGGACTTCTTCTGTCCCTGGTGACCAGGTGTCCCTGTTGGCTGTGGATGAGATGCACCAGGACCTGCCTCGGATGGAGCCGGACATGTACTGGAATAAGCCCGAGCCACAGCCCCCCTACACAGCTGCTTCCGCCCAGTTCCGTCGAGCCTCCTTTATGGGCTCCACCTTCAACATCAGGTGTGGCCAGAGCCAGGGGGCTGGGTGGGAAGCCCCTCCTAGTGCAGGGGTCTGCCTAGGAACTTAGAATAGCACTAGTTAATGCATACAGGTTGCTTCAGTAAGTGTCAGGCACTGTACTATGCTCTTTATAAACATTAACTATTTTTTTCCTCCCAATAATTCTGGTTTGTTATCCCAAGTTTTCAGATAATTAAAGTACAGGTTCAGAGAGAGTAAGTTGTCCAAGGCCACATAGCTACCAAATGGTGCATTTGCTACTCGAAGGACAGCCTGTGATCAGTGATGCAGTGGAACGTTAGGACCTGGCTCTTGTCATCCAGAACTATGTTTTCTTTTCTTTTTGAGACAGTATCTCGCTCTGTCGCCCAGGTTGGAGCGCAGTGGCGTGATCTTGGCTCACTGCAACCTCCGCCTCCTGGGTTCAAGTGATTCTCCTGCTTCAGCCTCCCCAGTAGCTGGGATTACAGGTGCCCACAACCACAACTGGCTAATTTTTGTACTTTTAGTAGAGATGAGGTTTCACCATGTTGGCCAGGCTGGTCTCCAACTCCTGACCAGTAATCTGCCCGCTTTGGCCTCCCAAAATGCTGGAATTATAGGTGTCAAAACTATGTTTTCTGATAAGCTACGATGCTTGGATGGGAAGTGGAAGTGGGGTTCCCTGGGATGGGGGAGGGGCAGCAAAGTCCCAGCAGGCAGCCAGGCCATCACAGGTACCTCCTGAATTGACTTTGTCCTACCGAGTAAAGGGCTCAGGCCACCCACAGCAGCCAGACTTATCCCCACATGGTCCCACTTCCCTGATTCCATCTGAATCCCTCTTGAGCTGCAGTGGGCTGAAGGGCTATCCCAGCTGGTCCTTTCTCCCCAGGACAACAGAGTTGAAAGTGCCTTGGAGAGTGTTGGGCACATGTCAGGGTTCATACTCAAGGGTTTCTTCCACGGTATCCAGTGCTGTTCTCGCTTGTTCTTTTCTTTTTTTTTTTTTAAACGGAGTTTCACTCTTGTTGCCCAGAGCTGGAGTGCAGTGGCATAATCTCGGCTCACTGCAACCTCCGCCTCCCAGATTCAAGCAATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTATAGGTGCCAGCCACCAAGCCCGGCTAATTTTTGTATTTTTAGTAGAGACAGTTTCACCATGTTGGCCAGGCTGGTCTCGAACTCCTGACCTCAGGTGATCCACCCTCCTCAGCCTCCCAAAGTGCTGGGATTACATGTGTGAGCCACTGTGCCTGGCTGCTTGTTCTTTTAAGAACCAAATATCCTACTAGACTGCAATCGAGTTTAACTACAGTCTATAGATAGTGTGAGGAAGGGTTGGGAAGGTGATCAAATGAAGGCTGGAGGCTTGCTTAGGTCAGAAACATTTCTGGAGGATGACTTTGAGCCCTACATGGTCTGTACCCCAGCAGCTGAAGGTTGTTGAGGGGTGGGGAGGGCTGAAAACAGAACGATAAAGCATAGACCTTGTCTCCAAGGAATGCACAATTTATGGAGGGAGCTCAAACCCAAGCCTCAAACTCTG
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Task1_train_15965
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Located on Chromosome 11, this mutation impacts BEST1 (bestrophin 1). What is its biological consequence — is it benign or pathogenic, and which disease is associated if any?
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Pathogenic; Retinal dystrophy
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GAAGGACCAAGGAAGCAGCTGGGGTGGGAAGGGCTCACCTAGAGGCTAAGTGGCTCCCCTGGGAGTTGGGTCCACACTTTGAAGTTGGGTCTGGACTTTGAAGTGCCAAGTTCTAAGAGTCCAGGCTCCTGCCTGGCCCAGTCCAGTAGAGGCAATGTGATTATCCCCATATTAAAGAGAGGTTGGCCGGGTGCAGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAAGCTGAGGCAGGTGGATCACCTGAGGTCAGGAGTTCGAGACCAGCCTGGCCAACATGGTGAAACCCCATCTCTACTGAAAATACAGAATTAGCTGTGTGGTGGTGCACGCCTGTAATCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATCGCTTGAACCCGGGAGGTGGAGGTTGCAGTGAGCTGAGATCATGCCACTGCACTCCAGCCTGGGCGACACAGCAAGACTCTGTCTCAAACAAACAAACAAACAAACAAACAAAGGGGTTAACAGAGCCCCTAAGTCACATAAGTGTGCAAGTCAGAACAAGGCCTTGGTCTCCTGTCTCAGACTCCCAGCCCCTGGAGCATCCTGATTTCAGGGTTCCCACCTAGCCCTTTGCTACCACATCCTCCTCCTCCTCCCAGGTGGTGACTGTGGCGGTGTACAGCTTCTTCCTGACTTGTCTAGTTGGGCGGCAGTTTCTGAACCCAGCCAAGGCCTACCCTGGCCATGAGCTGGACCTCGTTGTGCCCGTCTTCACGTTCCTGCAGTTCTTCTTCTATGTTGGCTGGCTGAAGGTGGGCCTCTCCAGGGCCCTGCTGGGCTGGAGGCATGGCCAGAGGGGTCATGGCCAGCAGCTGCCTGAGACGAGGATGCAGTGTCAGGAAAGGAAGGTCTCACGGGTAGAAAGCAGCCAGGCGTGGTGGCGCACACCTGTAATCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATCGCTTGAACCCGGGAGGCGGAGGTTGTGGTGAGTTGAGATCGTGCCACTGCACTCCAGCCTGGGCAAAAGAATGAAACTCTATCTCAAAAACAACAACAACAACAAAACAAAGCCCTAAGGTTCAGAAGCCCCTGCCCTTTAGAAGGCAGATCGGCACCACCTCTCCTTATTCAAGATGCCTGTTGGGCTGTCTTGTTCCTCACCTCAAGTGGCTTGTCCAGGTATTCCCTCCCACCACAGCCAATACTCCGAACAGATGTTCTGAATCACACAGTTTTCTCTCCACCTCTTTATCTTTCCTTCCTTCTGTTGCCCACCCACTCTCTCTCCCTTCCTACCTTCCTTTATTTTTTGGTAATGGGGGTGTAAGTCTCTGTCTCTGCCCTTCCTGTCACTGTGACACACACACACACACACACACACACACACACATACACACACACACACACGCATTCCTATTCCTCTAAATTCCCCCTGCCCCCCCAGTTATCTTTGGTTTCTGCAGATCAAAACAAATCACACTTTTATGCTTGAAATTCTCCGGGGTGCCCCAGTGGCCTGCAAGATGTCCCCTGGACCCCTAAGGCAGACGCGTGTCACCTCTTCGGGGCTTTGTTAGGGCATTTTAGAGGTTGCTATCCAGGAATCTGCCCACCTAGACTGCCCTTTAGTTCAGCCCAGCTTCAGTATATATCTCTGTTGCATGAATGAATAAAATTATGCAACTCCAGGTAAGATACATGAGGTGAGATAAAGGCAGTGACTCAGCCGAGTGATACACTCAGGGACAGCTGTGGGTGTTCAGGGAAGGACTGGCTCAGAAGAGTTAGAGGGGCTGTGTCCAGAAGTGTGTGGGTGCCCACAAGTGTGGGGGGCTGGAGCCCTAAACTCTGCCTTTGAAGACAGTGGTCAGGCAGGAAGGGCGTCATGGGGTGTGGAAATAGCAGCAGCTGAGGTTTAAAGGGGGAAGCTGGCTTTGAGGAGTTCTGCCTGAGGGTTTACAGAGCCTCACCTGTCCCCAAGGTGGCAGAGCAGCTCATCAACCCCTTTGGAGAGGATGATGATGATTTTGAGACCAACTGGATTGTCGACAGGAATTTGCAGGTATGGGGAGAGGGAGAGAAACCATACCATGGACCTTCCCCAAAGTGGACCCAAAGAGAGGACCCCACTGTTCTGTAGGGAGGCCTCACAGTGAATGATCAACCCTTCCCCTCCTCCCTCCTGCAGCCAGTCATTCACTCACAGGATTCTCACCTCAATCTTTGAGGCTGCAGGCAGGCACCCATCTCCCCATTTCACAGGCAGGGAAACTGAGGTCCAGAGAGAGGGAGAGATTCCTCCAAGTCATCAGGCACATACAAGGTCCTGCCTGGGATGATCTTTCTGTGGGACTTCTTCTGTCCCTGGTGACCAGGTGTCCCTGTTGGCTGTGGATGAGATGCACCAGGACCTGCCTCGGATGGAGCCGGACATGTACTGGAATAAGCCCGAGCCACAGCCCCCCTACACAGCTGCTTCCGCCCAGTTCCGTCGAGCCTCCTTTATGGGCTCCACCTTCAACATCAGGTGTGGCCAGAGCCAGGGGGCTGGGTGGGAAGCCCCTCCTAGTGCAGGGGTCTGCCTAGGAACTTAGAATAGCACTAGTTAATGCATACAGGTTGCTTCAGTAAGTGTCAGGCACTGTACTATGCTCTTTATAAACATTAACTATTTTTTTCCTCCCAATAATTCTGGTTTGTTATCCCAAGTTTTCAGATAATTAAAGTACAGGTTCAGAGAGAGTAAGTTGTCCAAGGCCACATAGCTACCAAATGGTGCATTTGCTACTCGAAGGACAGCCTGTGATCAGTGATGCAGTGGAACGTTAGGACCTGGCTCTTGTCATCCAGAACTATGTTTTCTTTTCTTTTTGAGACAGTATCTCGCTCTGTCGCCCAGGTTGGAGCGCAGTGGCGTGATCTTGGCTCACTGCAACCTCCGCCTCCTGGGTTCAAGTGATTCTCCTGCTTCAGCCTCCCCAGTAGCTGGGATTACAGGTGCCCACAACCACAACTGGCTAATTTTTGTACTTTTAGTAGAGATGAGGTTTCACCATGTTGGCCAGGCTGGTCTCCAACTCCTGACCAGTAATCTGCCCGCTTTGGCCTCCCAAAATGCTGGAATTATAGGTGTCAAAACTATGTTTTCTGATAAGCTACGATGCTTGGATGGGAAGTGGAAGTGGGGTTCCCTGGGATGGGGGAGGGGCAGCAAAGTCCCAGCAGGCAGCCAGGCCATCACAGGTACCTCCTGAATTGACTTTGTCCTACCGAGTAAAGGGCTCAGGCCACCCACAGCAGCCAGACTTATCCCCACATGGTCCCACTTCCCTGATTCCATCTGAATCCCTCTTGAGCTGCAGTGGGCTGAAGGGCTATCCCAGCTGGTCCTTTCTCCCCAGGACAACAGAGTTGAAAGTGCCTTGGAGAGTGTTGGGCACATGTCAGGGTTCATACTCAAGGGTTTCTTCCACGGTATCCAGTGCTGTTCTCGCTTGTTCTTTTCTTTTTTTTTTTTTAAACGGAGTTTCACTCTTGTTGCCCAGAGCTGGAGTGCAGTGGCATAATCTCGGCTCACTGCAACCTCCGCCTCCCAGATTCAAGCAATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTATAGGTGCCAGCCACCAAGCCCGGCTAATTTTTGTATTTTTAGTAGAGACAGTTTCACCATGTTGGCCAGGCTGGTCTCGAACTCCTGACCTCAGGTGATCCACCCTCCTCAGCCTCCCAAAGTGCTGGGATTACATGTGTGAGCCACTGTGCCTGGCTGCTTGTTCTTTTAAGAACCAAATATCCTACTAGACTGCAATCGAGTTTAACTACAGTCTATAGATAGTGTGAGGAAGGGTTGGGAAGGTGATCAAATGAAGGCTGGAGGCTTGCTTAGGTCAGAAACATTTCTGGAGGATGACTTTGAGCCCTACATGGTCTGTACCCCAGCAGCTGAAGGTTGTTGAGGGGTGGGGAGGGCTGAAAACAGAACGATAAAGCATAGACCTTGTCTCCAAGGAATGCACAATTTATGGAGGGAGCTCAAACCCAAGCCTCAAACTCTGGATA
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GAAGGACCAAGGAAGCAGCTGGGGTGGGAAGGGCTCACCTAGAGGCTAAGTGGCTCCCCTGGGAGTTGGGTCCACACTTTGAAGTTGGGTCTGGACTTTGAAGTGCCAAGTTCTAAGAGTCCAGGCTCCTGCCTGGCCCAGTCCAGTAGAGGCAATGTGATTATCCCCATATTAAAGAGAGGTTGGCCGGGTGCAGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAAGCTGAGGCAGGTGGATCACCTGAGGTCAGGAGTTCGAGACCAGCCTGGCCAACATGGTGAAACCCCATCTCTACTGAAAATACAGAATTAGCTGTGTGGTGGTGCACGCCTGTAATCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATCGCTTGAACCCGGGAGGTGGAGGTTGCAGTGAGCTGAGATCATGCCACTGCACTCCAGCCTGGGCGACACAGCAAGACTCTGTCTCAAACAAACAAACAAACAAACAAACAAAGGGGTTAACAGAGCCCCTAAGTCACATAAGTGTGCAAGTCAGAACAAGGCCTTGGTCTCCTGTCTCAGACTCCCAGCCCCTGGAGCATCCTGATTTCAGGGTTCCCACCTAGCCCTTTGCTACCACATCCTCCTCCTCCTCCCAGGTGGTGACTGTGGCGGTGTACAGCTTCTTCCTGACTTGTCTAGTTGGGCGGCAGTTTCTGAACCCAGCCAAGGCCTACCCTGGCCATGAGCTGGACCTCGTTGTGCCCGTCTTCACGTTCCTGCAGTTCTTCTTCTATGTTGGCTGGCTGAAGGTGGGCCTCTCCAGGGCCCTGCTGGGCTGGAGGCATGGCCAGAGGGGTCATGGCCAGCAGCTGCCTGAGACGAGGATGCAGTGTCAGGAAAGGAAGGTCTCACGGGTAGAAAGCAGCCAGGCGTGGTGGCGCACACCTGTAATCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATCGCTTGAACCCGGGAGGCGGAGGTTGTGGTGAGTTGAGATCGTGCCACTGCACTCCAGCCTGGGCAAAAGAATGAAACTCTATCTCAAAAACAACAACAACAACAAAACAAAGCCCTAAGGTTCAGAAGCCCCTGCCCTTTAGAAGGCAGATCGGCACCACCTCTCCTTATTCAAGATGCCTGTTGGGCTGTCTTGTTCCTCACCTCAAGTGGCTTGTCCAGGTATTCCCTCCCACCACAGCCAATACTCCGAACAGATGTTCTGAATCACACAGTTTTCTCTCCACCTCTTTATCTTTCCTTCCTTCTGTTGCCCACCCACTCTCTCTCCCTTCCTACCTTCCTTTATTTTTTGGTAATGGGGGTGTAAGTCTCTGTCTCTGCCCTTCCTGTCACTGTGACACACACACACACACACACACACACACACACATACACACACACACACACGCATTCCTATTCCTCTAAATTCCCCCTGCCCCCCCAGTTATCTTTGGTTTCTGCAGATCAAAACAAATCACACTTTTATGCTTGAAATTCTCCGGGGTGCCCCAGTGGCCTGCAAGATGTCCCCTGGACCCCTAAGGCAGACGCGTGTCACCTCTTCGGGGCTTTGTTAGGGCATTTTAGAGGTTGCTATCCAGGAATCTGCCCACCTAGACTGCCCTTTAGTTCAGCCCAGCTTCAGTATATATCTCTGTTGCATGAATGAATAAAATTATGCAACTCCAGGTAAGATACATGAGGTGAGATAAAGGCAGTGACTCAGCCGAGTGATACACTCAGGGACAGCTGTGGGTGTTCAGGGAAGGACTGGCTCAGAAGAGTTAGAGGGGCTGTGTCCAGAAGTGTGTGGGTGCCCACAAGTGTGGGGGGCTGGAGCCCTAAACTCTGCCTTTGAAGACAGTGGTCAGGCAGGAAGGGCGTCATGGGGTGTGGAAATAGCAGCAGCTGAGGTTTAAAGGGGGAAGCTGGCTTTGAGGAGTTCTGCCTGAGGGTTTACAGAGCCTCACCTGTCCCCAAGGTGGCAGAGCAGCTCATCAACCCCTTTGGAGAGGATGATGATGATTTTGAGACCAACTGGACTGTCGACAGGAATTTGCAGGTATGGGGAGAGGGAGAGAAACCATACCATGGACCTTCCCCAAAGTGGACCCAAAGAGAGGACCCCACTGTTCTGTAGGGAGGCCTCACAGTGAATGATCAACCCTTCCCCTCCTCCCTCCTGCAGCCAGTCATTCACTCACAGGATTCTCACCTCAATCTTTGAGGCTGCAGGCAGGCACCCATCTCCCCATTTCACAGGCAGGGAAACTGAGGTCCAGAGAGAGGGAGAGATTCCTCCAAGTCATCAGGCACATACAAGGTCCTGCCTGGGATGATCTTTCTGTGGGACTTCTTCTGTCCCTGGTGACCAGGTGTCCCTGTTGGCTGTGGATGAGATGCACCAGGACCTGCCTCGGATGGAGCCGGACATGTACTGGAATAAGCCCGAGCCACAGCCCCCCTACACAGCTGCTTCCGCCCAGTTCCGTCGAGCCTCCTTTATGGGCTCCACCTTCAACATCAGGTGTGGCCAGAGCCAGGGGGCTGGGTGGGAAGCCCCTCCTAGTGCAGGGGTCTGCCTAGGAACTTAGAATAGCACTAGTTAATGCATACAGGTTGCTTCAGTAAGTGTCAGGCACTGTACTATGCTCTTTATAAACATTAACTATTTTTTTCCTCCCAATAATTCTGGTTTGTTATCCCAAGTTTTCAGATAATTAAAGTACAGGTTCAGAGAGAGTAAGTTGTCCAAGGCCACATAGCTACCAAATGGTGCATTTGCTACTCGAAGGACAGCCTGTGATCAGTGATGCAGTGGAACGTTAGGACCTGGCTCTTGTCATCCAGAACTATGTTTTCTTTTCTTTTTGAGACAGTATCTCGCTCTGTCGCCCAGGTTGGAGCGCAGTGGCGTGATCTTGGCTCACTGCAACCTCCGCCTCCTGGGTTCAAGTGATTCTCCTGCTTCAGCCTCCCCAGTAGCTGGGATTACAGGTGCCCACAACCACAACTGGCTAATTTTTGTACTTTTAGTAGAGATGAGGTTTCACCATGTTGGCCAGGCTGGTCTCCAACTCCTGACCAGTAATCTGCCCGCTTTGGCCTCCCAAAATGCTGGAATTATAGGTGTCAAAACTATGTTTTCTGATAAGCTACGATGCTTGGATGGGAAGTGGAAGTGGGGTTCCCTGGGATGGGGGAGGGGCAGCAAAGTCCCAGCAGGCAGCCAGGCCATCACAGGTACCTCCTGAATTGACTTTGTCCTACCGAGTAAAGGGCTCAGGCCACCCACAGCAGCCAGACTTATCCCCACATGGTCCCACTTCCCTGATTCCATCTGAATCCCTCTTGAGCTGCAGTGGGCTGAAGGGCTATCCCAGCTGGTCCTTTCTCCCCAGGACAACAGAGTTGAAAGTGCCTTGGAGAGTGTTGGGCACATGTCAGGGTTCATACTCAAGGGTTTCTTCCACGGTATCCAGTGCTGTTCTCGCTTGTTCTTTTCTTTTTTTTTTTTTAAACGGAGTTTCACTCTTGTTGCCCAGAGCTGGAGTGCAGTGGCATAATCTCGGCTCACTGCAACCTCCGCCTCCCAGATTCAAGCAATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTATAGGTGCCAGCCACCAAGCCCGGCTAATTTTTGTATTTTTAGTAGAGACAGTTTCACCATGTTGGCCAGGCTGGTCTCGAACTCCTGACCTCAGGTGATCCACCCTCCTCAGCCTCCCAAAGTGCTGGGATTACATGTGTGAGCCACTGTGCCTGGCTGCTTGTTCTTTTAAGAACCAAATATCCTACTAGACTGCAATCGAGTTTAACTACAGTCTATAGATAGTGTGAGGAAGGGTTGGGAAGGTGATCAAATGAAGGCTGGAGGCTTGCTTAGGTCAGAAACATTTCTGGAGGATGACTTTGAGCCCTACATGGTCTGTACCCCAGCAGCTGAAGGTTGTTGAGGGGTGGGGAGGGCTGAAAACAGAACGATAAAGCATAGACCTTGTCTCCAAGGAATGCACAATTTATGGAGGGAGCTCAAACCCAAGCCTCAAACTCTGGATA
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Task1_train_15966
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A sequence alteration has been identified in BEST1, FTH1 (bestrophin 1| ferritin heavy chain 1) on Chromosome 11. Is it disease-inducing or harmless?
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Pathogenic; Vitelliform macular dystrophy 2
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GGACCAAGGAAGCAGCTGGGGTGGGAAGGGCTCACCTAGAGGCTAAGTGGCTCCCCTGGGAGTTGGGTCCACACTTTGAAGTTGGGTCTGGACTTTGAAGTGCCAAGTTCTAAGAGTCCAGGCTCCTGCCTGGCCCAGTCCAGTAGAGGCAATGTGATTATCCCCATATTAAAGAGAGGTTGGCCGGGTGCAGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAAGCTGAGGCAGGTGGATCACCTGAGGTCAGGAGTTCGAGACCAGCCTGGCCAACATGGTGAAACCCCATCTCTACTGAAAATACAGAATTAGCTGTGTGGTGGTGCACGCCTGTAATCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATCGCTTGAACCCGGGAGGTGGAGGTTGCAGTGAGCTGAGATCATGCCACTGCACTCCAGCCTGGGCGACACAGCAAGACTCTGTCTCAAACAAACAAACAAACAAACAAACAAAGGGGTTAACAGAGCCCCTAAGTCACATAAGTGTGCAAGTCAGAACAAGGCCTTGGTCTCCTGTCTCAGACTCCCAGCCCCTGGAGCATCCTGATTTCAGGGTTCCCACCTAGCCCTTTGCTACCACATCCTCCTCCTCCTCCCAGGTGGTGACTGTGGCGGTGTACAGCTTCTTCCTGACTTGTCTAGTTGGGCGGCAGTTTCTGAACCCAGCCAAGGCCTACCCTGGCCATGAGCTGGACCTCGTTGTGCCCGTCTTCACGTTCCTGCAGTTCTTCTTCTATGTTGGCTGGCTGAAGGTGGGCCTCTCCAGGGCCCTGCTGGGCTGGAGGCATGGCCAGAGGGGTCATGGCCAGCAGCTGCCTGAGACGAGGATGCAGTGTCAGGAAAGGAAGGTCTCACGGGTAGAAAGCAGCCAGGCGTGGTGGCGCACACCTGTAATCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATCGCTTGAACCCGGGAGGCGGAGGTTGTGGTGAGTTGAGATCGTGCCACTGCACTCCAGCCTGGGCAAAAGAATGAAACTCTATCTCAAAAACAACAACAACAACAAAACAAAGCCCTAAGGTTCAGAAGCCCCTGCCCTTTAGAAGGCAGATCGGCACCACCTCTCCTTATTCAAGATGCCTGTTGGGCTGTCTTGTTCCTCACCTCAAGTGGCTTGTCCAGGTATTCCCTCCCACCACAGCCAATACTCCGAACAGATGTTCTGAATCACACAGTTTTCTCTCCACCTCTTTATCTTTCCTTCCTTCTGTTGCCCACCCACTCTCTCTCCCTTCCTACCTTCCTTTATTTTTTGGTAATGGGGGTGTAAGTCTCTGTCTCTGCCCTTCCTGTCACTGTGACACACACACACACACACACACACACACACACATACACACACACACACACGCATTCCTATTCCTCTAAATTCCCCCTGCCCCCCCAGTTATCTTTGGTTTCTGCAGATCAAAACAAATCACACTTTTATGCTTGAAATTCTCCGGGGTGCCCCAGTGGCCTGCAAGATGTCCCCTGGACCCCTAAGGCAGACGCGTGTCACCTCTTCGGGGCTTTGTTAGGGCATTTTAGAGGTTGCTATCCAGGAATCTGCCCACCTAGACTGCCCTTTAGTTCAGCCCAGCTTCAGTATATATCTCTGTTGCATGAATGAATAAAATTATGCAACTCCAGGTAAGATACATGAGGTGAGATAAAGGCAGTGACTCAGCCGAGTGATACACTCAGGGACAGCTGTGGGTGTTCAGGGAAGGACTGGCTCAGAAGAGTTAGAGGGGCTGTGTCCAGAAGTGTGTGGGTGCCCACAAGTGTGGGGGGCTGGAGCCCTAAACTCTGCCTTTGAAGACAGTGGTCAGGCAGGAAGGGCGTCATGGGGTGTGGAAATAGCAGCAGCTGAGGTTTAAAGGGGGAAGCTGGCTTTGAGGAGTTCTGCCTGAGGGTTTACAGAGCCTCACCTGTCCCCAAGGTGGCAGAGCAGCTCATCAACCCCTTTGGAGAGGATGATGATGATTTTGAGACCAACTGGATTGTCGACAGGAATTTGCAGGTATGGGGAGAGGGAGAGAAACCATACCATGGACCTTCCCCAAAGTGGACCCAAAGAGAGGACCCCACTGTTCTGTAGGGAGGCCTCACAGTGAATGATCAACCCTTCCCCTCCTCCCTCCTGCAGCCAGTCATTCACTCACAGGATTCTCACCTCAATCTTTGAGGCTGCAGGCAGGCACCCATCTCCCCATTTCACAGGCAGGGAAACTGAGGTCCAGAGAGAGGGAGAGATTCCTCCAAGTCATCAGGCACATACAAGGTCCTGCCTGGGATGATCTTTCTGTGGGACTTCTTCTGTCCCTGGTGACCAGGTGTCCCTGTTGGCTGTGGATGAGATGCACCAGGACCTGCCTCGGATGGAGCCGGACATGTACTGGAATAAGCCCGAGCCACAGCCCCCCTACACAGCTGCTTCCGCCCAGTTCCGTCGAGCCTCCTTTATGGGCTCCACCTTCAACATCAGGTGTGGCCAGAGCCAGGGGGCTGGGTGGGAAGCCCCTCCTAGTGCAGGGGTCTGCCTAGGAACTTAGAATAGCACTAGTTAATGCATACAGGTTGCTTCAGTAAGTGTCAGGCACTGTACTATGCTCTTTATAAACATTAACTATTTTTTTCCTCCCAATAATTCTGGTTTGTTATCCCAAGTTTTCAGATAATTAAAGTACAGGTTCAGAGAGAGTAAGTTGTCCAAGGCCACATAGCTACCAAATGGTGCATTTGCTACTCGAAGGACAGCCTGTGATCAGTGATGCAGTGGAACGTTAGGACCTGGCTCTTGTCATCCAGAACTATGTTTTCTTTTCTTTTTGAGACAGTATCTCGCTCTGTCGCCCAGGTTGGAGCGCAGTGGCGTGATCTTGGCTCACTGCAACCTCCGCCTCCTGGGTTCAAGTGATTCTCCTGCTTCAGCCTCCCCAGTAGCTGGGATTACAGGTGCCCACAACCACAACTGGCTAATTTTTGTACTTTTAGTAGAGATGAGGTTTCACCATGTTGGCCAGGCTGGTCTCCAACTCCTGACCAGTAATCTGCCCGCTTTGGCCTCCCAAAATGCTGGAATTATAGGTGTCAAAACTATGTTTTCTGATAAGCTACGATGCTTGGATGGGAAGTGGAAGTGGGGTTCCCTGGGATGGGGGAGGGGCAGCAAAGTCCCAGCAGGCAGCCAGGCCATCACAGGTACCTCCTGAATTGACTTTGTCCTACCGAGTAAAGGGCTCAGGCCACCCACAGCAGCCAGACTTATCCCCACATGGTCCCACTTCCCTGATTCCATCTGAATCCCTCTTGAGCTGCAGTGGGCTGAAGGGCTATCCCAGCTGGTCCTTTCTCCCCAGGACAACAGAGTTGAAAGTGCCTTGGAGAGTGTTGGGCACATGTCAGGGTTCATACTCAAGGGTTTCTTCCACGGTATCCAGTGCTGTTCTCGCTTGTTCTTTTCTTTTTTTTTTTTTAAACGGAGTTTCACTCTTGTTGCCCAGAGCTGGAGTGCAGTGGCATAATCTCGGCTCACTGCAACCTCCGCCTCCCAGATTCAAGCAATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTATAGGTGCCAGCCACCAAGCCCGGCTAATTTTTGTATTTTTAGTAGAGACAGTTTCACCATGTTGGCCAGGCTGGTCTCGAACTCCTGACCTCAGGTGATCCACCCTCCTCAGCCTCCCAAAGTGCTGGGATTACATGTGTGAGCCACTGTGCCTGGCTGCTTGTTCTTTTAAGAACCAAATATCCTACTAGACTGCAATCGAGTTTAACTACAGTCTATAGATAGTGTGAGGAAGGGTTGGGAAGGTGATCAAATGAAGGCTGGAGGCTTGCTTAGGTCAGAAACATTTCTGGAGGATGACTTTGAGCCCTACATGGTCTGTACCCCAGCAGCTGAAGGTTGTTGAGGGGTGGGGAGGGCTGAAAACAGAACGATAAAGCATAGACCTTGTCTCCAAGGAATGCACAATTTATGGAGGGAGCTCAAACCCAAGCCTCAAACTCTGGATACAA
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GGACCAAGGAAGCAGCTGGGGTGGGAAGGGCTCACCTAGAGGCTAAGTGGCTCCCCTGGGAGTTGGGTCCACACTTTGAAGTTGGGTCTGGACTTTGAAGTGCCAAGTTCTAAGAGTCCAGGCTCCTGCCTGGCCCAGTCCAGTAGAGGCAATGTGATTATCCCCATATTAAAGAGAGGTTGGCCGGGTGCAGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAAGCTGAGGCAGGTGGATCACCTGAGGTCAGGAGTTCGAGACCAGCCTGGCCAACATGGTGAAACCCCATCTCTACTGAAAATACAGAATTAGCTGTGTGGTGGTGCACGCCTGTAATCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATCGCTTGAACCCGGGAGGTGGAGGTTGCAGTGAGCTGAGATCATGCCACTGCACTCCAGCCTGGGCGACACAGCAAGACTCTGTCTCAAACAAACAAACAAACAAACAAACAAAGGGGTTAACAGAGCCCCTAAGTCACATAAGTGTGCAAGTCAGAACAAGGCCTTGGTCTCCTGTCTCAGACTCCCAGCCCCTGGAGCATCCTGATTTCAGGGTTCCCACCTAGCCCTTTGCTACCACATCCTCCTCCTCCTCCCAGGTGGTGACTGTGGCGGTGTACAGCTTCTTCCTGACTTGTCTAGTTGGGCGGCAGTTTCTGAACCCAGCCAAGGCCTACCCTGGCCATGAGCTGGACCTCGTTGTGCCCGTCTTCACGTTCCTGCAGTTCTTCTTCTATGTTGGCTGGCTGAAGGTGGGCCTCTCCAGGGCCCTGCTGGGCTGGAGGCATGGCCAGAGGGGTCATGGCCAGCAGCTGCCTGAGACGAGGATGCAGTGTCAGGAAAGGAAGGTCTCACGGGTAGAAAGCAGCCAGGCGTGGTGGCGCACACCTGTAATCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATCGCTTGAACCCGGGAGGCGGAGGTTGTGGTGAGTTGAGATCGTGCCACTGCACTCCAGCCTGGGCAAAAGAATGAAACTCTATCTCAAAAACAACAACAACAACAAAACAAAGCCCTAAGGTTCAGAAGCCCCTGCCCTTTAGAAGGCAGATCGGCACCACCTCTCCTTATTCAAGATGCCTGTTGGGCTGTCTTGTTCCTCACCTCAAGTGGCTTGTCCAGGTATTCCCTCCCACCACAGCCAATACTCCGAACAGATGTTCTGAATCACACAGTTTTCTCTCCACCTCTTTATCTTTCCTTCCTTCTGTTGCCCACCCACTCTCTCTCCCTTCCTACCTTCCTTTATTTTTTGGTAATGGGGGTGTAAGTCTCTGTCTCTGCCCTTCCTGTCACTGTGACACACACACACACACACACACACACACACACATACACACACACACACACGCATTCCTATTCCTCTAAATTCCCCCTGCCCCCCCAGTTATCTTTGGTTTCTGCAGATCAAAACAAATCACACTTTTATGCTTGAAATTCTCCGGGGTGCCCCAGTGGCCTGCAAGATGTCCCCTGGACCCCTAAGGCAGACGCGTGTCACCTCTTCGGGGCTTTGTTAGGGCATTTTAGAGGTTGCTATCCAGGAATCTGCCCACCTAGACTGCCCTTTAGTTCAGCCCAGCTTCAGTATATATCTCTGTTGCATGAATGAATAAAATTATGCAACTCCAGGTAAGATACATGAGGTGAGATAAAGGCAGTGACTCAGCCGAGTGATACACTCAGGGACAGCTGTGGGTGTTCAGGGAAGGACTGGCTCAGAAGAGTTAGAGGGGCTGTGTCCAGAAGTGTGTGGGTGCCCACAAGTGTGGGGGGCTGGAGCCCTAAACTCTGCCTTTGAAGACAGTGGTCAGGCAGGAAGGGCGTCATGGGGTGTGGAAATAGCAGCAGCTGAGGTTTAAAGGGGGAAGCTGGCTTTGAGGAGTTCTGCCTGAGGGTTTACAGAGCCTCACCTGTCCCCAAGGTGGCAGAGCAGCTCATCAACCCCTTTGGAGAGGATGATGATGATTTTGAGACCAACTGGATTGGCGACAGGAATTTGCAGGTATGGGGAGAGGGAGAGAAACCATACCATGGACCTTCCCCAAAGTGGACCCAAAGAGAGGACCCCACTGTTCTGTAGGGAGGCCTCACAGTGAATGATCAACCCTTCCCCTCCTCCCTCCTGCAGCCAGTCATTCACTCACAGGATTCTCACCTCAATCTTTGAGGCTGCAGGCAGGCACCCATCTCCCCATTTCACAGGCAGGGAAACTGAGGTCCAGAGAGAGGGAGAGATTCCTCCAAGTCATCAGGCACATACAAGGTCCTGCCTGGGATGATCTTTCTGTGGGACTTCTTCTGTCCCTGGTGACCAGGTGTCCCTGTTGGCTGTGGATGAGATGCACCAGGACCTGCCTCGGATGGAGCCGGACATGTACTGGAATAAGCCCGAGCCACAGCCCCCCTACACAGCTGCTTCCGCCCAGTTCCGTCGAGCCTCCTTTATGGGCTCCACCTTCAACATCAGGTGTGGCCAGAGCCAGGGGGCTGGGTGGGAAGCCCCTCCTAGTGCAGGGGTCTGCCTAGGAACTTAGAATAGCACTAGTTAATGCATACAGGTTGCTTCAGTAAGTGTCAGGCACTGTACTATGCTCTTTATAAACATTAACTATTTTTTTCCTCCCAATAATTCTGGTTTGTTATCCCAAGTTTTCAGATAATTAAAGTACAGGTTCAGAGAGAGTAAGTTGTCCAAGGCCACATAGCTACCAAATGGTGCATTTGCTACTCGAAGGACAGCCTGTGATCAGTGATGCAGTGGAACGTTAGGACCTGGCTCTTGTCATCCAGAACTATGTTTTCTTTTCTTTTTGAGACAGTATCTCGCTCTGTCGCCCAGGTTGGAGCGCAGTGGCGTGATCTTGGCTCACTGCAACCTCCGCCTCCTGGGTTCAAGTGATTCTCCTGCTTCAGCCTCCCCAGTAGCTGGGATTACAGGTGCCCACAACCACAACTGGCTAATTTTTGTACTTTTAGTAGAGATGAGGTTTCACCATGTTGGCCAGGCTGGTCTCCAACTCCTGACCAGTAATCTGCCCGCTTTGGCCTCCCAAAATGCTGGAATTATAGGTGTCAAAACTATGTTTTCTGATAAGCTACGATGCTTGGATGGGAAGTGGAAGTGGGGTTCCCTGGGATGGGGGAGGGGCAGCAAAGTCCCAGCAGGCAGCCAGGCCATCACAGGTACCTCCTGAATTGACTTTGTCCTACCGAGTAAAGGGCTCAGGCCACCCACAGCAGCCAGACTTATCCCCACATGGTCCCACTTCCCTGATTCCATCTGAATCCCTCTTGAGCTGCAGTGGGCTGAAGGGCTATCCCAGCTGGTCCTTTCTCCCCAGGACAACAGAGTTGAAAGTGCCTTGGAGAGTGTTGGGCACATGTCAGGGTTCATACTCAAGGGTTTCTTCCACGGTATCCAGTGCTGTTCTCGCTTGTTCTTTTCTTTTTTTTTTTTTAAACGGAGTTTCACTCTTGTTGCCCAGAGCTGGAGTGCAGTGGCATAATCTCGGCTCACTGCAACCTCCGCCTCCCAGATTCAAGCAATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTATAGGTGCCAGCCACCAAGCCCGGCTAATTTTTGTATTTTTAGTAGAGACAGTTTCACCATGTTGGCCAGGCTGGTCTCGAACTCCTGACCTCAGGTGATCCACCCTCCTCAGCCTCCCAAAGTGCTGGGATTACATGTGTGAGCCACTGTGCCTGGCTGCTTGTTCTTTTAAGAACCAAATATCCTACTAGACTGCAATCGAGTTTAACTACAGTCTATAGATAGTGTGAGGAAGGGTTGGGAAGGTGATCAAATGAAGGCTGGAGGCTTGCTTAGGTCAGAAACATTTCTGGAGGATGACTTTGAGCCCTACATGGTCTGTACCCCAGCAGCTGAAGGTTGTTGAGGGGTGGGGAGGGCTGAAAACAGAACGATAAAGCATAGACCTTGTCTCCAAGGAATGCACAATTTATGGAGGGAGCTCAAACCCAAGCCTCAAACTCTGGATACAA
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Task1_train_15967
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The gene BEST1, FTH1 (bestrophin 1| ferritin heavy chain 1) on Chromosome 11 contains a mutation. Based on this information, is the variant pathogenic or benign? Provide the disease if relevant.
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Pathogenic; Retinal dystrophy
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GGACCAAGGAAGCAGCTGGGGTGGGAAGGGCTCACCTAGAGGCTAAGTGGCTCCCCTGGGAGTTGGGTCCACACTTTGAAGTTGGGTCTGGACTTTGAAGTGCCAAGTTCTAAGAGTCCAGGCTCCTGCCTGGCCCAGTCCAGTAGAGGCAATGTGATTATCCCCATATTAAAGAGAGGTTGGCCGGGTGCAGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAAGCTGAGGCAGGTGGATCACCTGAGGTCAGGAGTTCGAGACCAGCCTGGCCAACATGGTGAAACCCCATCTCTACTGAAAATACAGAATTAGCTGTGTGGTGGTGCACGCCTGTAATCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATCGCTTGAACCCGGGAGGTGGAGGTTGCAGTGAGCTGAGATCATGCCACTGCACTCCAGCCTGGGCGACACAGCAAGACTCTGTCTCAAACAAACAAACAAACAAACAAACAAAGGGGTTAACAGAGCCCCTAAGTCACATAAGTGTGCAAGTCAGAACAAGGCCTTGGTCTCCTGTCTCAGACTCCCAGCCCCTGGAGCATCCTGATTTCAGGGTTCCCACCTAGCCCTTTGCTACCACATCCTCCTCCTCCTCCCAGGTGGTGACTGTGGCGGTGTACAGCTTCTTCCTGACTTGTCTAGTTGGGCGGCAGTTTCTGAACCCAGCCAAGGCCTACCCTGGCCATGAGCTGGACCTCGTTGTGCCCGTCTTCACGTTCCTGCAGTTCTTCTTCTATGTTGGCTGGCTGAAGGTGGGCCTCTCCAGGGCCCTGCTGGGCTGGAGGCATGGCCAGAGGGGTCATGGCCAGCAGCTGCCTGAGACGAGGATGCAGTGTCAGGAAAGGAAGGTCTCACGGGTAGAAAGCAGCCAGGCGTGGTGGCGCACACCTGTAATCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATCGCTTGAACCCGGGAGGCGGAGGTTGTGGTGAGTTGAGATCGTGCCACTGCACTCCAGCCTGGGCAAAAGAATGAAACTCTATCTCAAAAACAACAACAACAACAAAACAAAGCCCTAAGGTTCAGAAGCCCCTGCCCTTTAGAAGGCAGATCGGCACCACCTCTCCTTATTCAAGATGCCTGTTGGGCTGTCTTGTTCCTCACCTCAAGTGGCTTGTCCAGGTATTCCCTCCCACCACAGCCAATACTCCGAACAGATGTTCTGAATCACACAGTTTTCTCTCCACCTCTTTATCTTTCCTTCCTTCTGTTGCCCACCCACTCTCTCTCCCTTCCTACCTTCCTTTATTTTTTGGTAATGGGGGTGTAAGTCTCTGTCTCTGCCCTTCCTGTCACTGTGACACACACACACACACACACACACACACACACATACACACACACACACACGCATTCCTATTCCTCTAAATTCCCCCTGCCCCCCCAGTTATCTTTGGTTTCTGCAGATCAAAACAAATCACACTTTTATGCTTGAAATTCTCCGGGGTGCCCCAGTGGCCTGCAAGATGTCCCCTGGACCCCTAAGGCAGACGCGTGTCACCTCTTCGGGGCTTTGTTAGGGCATTTTAGAGGTTGCTATCCAGGAATCTGCCCACCTAGACTGCCCTTTAGTTCAGCCCAGCTTCAGTATATATCTCTGTTGCATGAATGAATAAAATTATGCAACTCCAGGTAAGATACATGAGGTGAGATAAAGGCAGTGACTCAGCCGAGTGATACACTCAGGGACAGCTGTGGGTGTTCAGGGAAGGACTGGCTCAGAAGAGTTAGAGGGGCTGTGTCCAGAAGTGTGTGGGTGCCCACAAGTGTGGGGGGCTGGAGCCCTAAACTCTGCCTTTGAAGACAGTGGTCAGGCAGGAAGGGCGTCATGGGGTGTGGAAATAGCAGCAGCTGAGGTTTAAAGGGGGAAGCTGGCTTTGAGGAGTTCTGCCTGAGGGTTTACAGAGCCTCACCTGTCCCCAAGGTGGCAGAGCAGCTCATCAACCCCTTTGGAGAGGATGATGATGATTTTGAGACCAACTGGATTGTCGACAGGAATTTGCAGGTATGGGGAGAGGGAGAGAAACCATACCATGGACCTTCCCCAAAGTGGACCCAAAGAGAGGACCCCACTGTTCTGTAGGGAGGCCTCACAGTGAATGATCAACCCTTCCCCTCCTCCCTCCTGCAGCCAGTCATTCACTCACAGGATTCTCACCTCAATCTTTGAGGCTGCAGGCAGGCACCCATCTCCCCATTTCACAGGCAGGGAAACTGAGGTCCAGAGAGAGGGAGAGATTCCTCCAAGTCATCAGGCACATACAAGGTCCTGCCTGGGATGATCTTTCTGTGGGACTTCTTCTGTCCCTGGTGACCAGGTGTCCCTGTTGGCTGTGGATGAGATGCACCAGGACCTGCCTCGGATGGAGCCGGACATGTACTGGAATAAGCCCGAGCCACAGCCCCCCTACACAGCTGCTTCCGCCCAGTTCCGTCGAGCCTCCTTTATGGGCTCCACCTTCAACATCAGGTGTGGCCAGAGCCAGGGGGCTGGGTGGGAAGCCCCTCCTAGTGCAGGGGTCTGCCTAGGAACTTAGAATAGCACTAGTTAATGCATACAGGTTGCTTCAGTAAGTGTCAGGCACTGTACTATGCTCTTTATAAACATTAACTATTTTTTTCCTCCCAATAATTCTGGTTTGTTATCCCAAGTTTTCAGATAATTAAAGTACAGGTTCAGAGAGAGTAAGTTGTCCAAGGCCACATAGCTACCAAATGGTGCATTTGCTACTCGAAGGACAGCCTGTGATCAGTGATGCAGTGGAACGTTAGGACCTGGCTCTTGTCATCCAGAACTATGTTTTCTTTTCTTTTTGAGACAGTATCTCGCTCTGTCGCCCAGGTTGGAGCGCAGTGGCGTGATCTTGGCTCACTGCAACCTCCGCCTCCTGGGTTCAAGTGATTCTCCTGCTTCAGCCTCCCCAGTAGCTGGGATTACAGGTGCCCACAACCACAACTGGCTAATTTTTGTACTTTTAGTAGAGATGAGGTTTCACCATGTTGGCCAGGCTGGTCTCCAACTCCTGACCAGTAATCTGCCCGCTTTGGCCTCCCAAAATGCTGGAATTATAGGTGTCAAAACTATGTTTTCTGATAAGCTACGATGCTTGGATGGGAAGTGGAAGTGGGGTTCCCTGGGATGGGGGAGGGGCAGCAAAGTCCCAGCAGGCAGCCAGGCCATCACAGGTACCTCCTGAATTGACTTTGTCCTACCGAGTAAAGGGCTCAGGCCACCCACAGCAGCCAGACTTATCCCCACATGGTCCCACTTCCCTGATTCCATCTGAATCCCTCTTGAGCTGCAGTGGGCTGAAGGGCTATCCCAGCTGGTCCTTTCTCCCCAGGACAACAGAGTTGAAAGTGCCTTGGAGAGTGTTGGGCACATGTCAGGGTTCATACTCAAGGGTTTCTTCCACGGTATCCAGTGCTGTTCTCGCTTGTTCTTTTCTTTTTTTTTTTTTAAACGGAGTTTCACTCTTGTTGCCCAGAGCTGGAGTGCAGTGGCATAATCTCGGCTCACTGCAACCTCCGCCTCCCAGATTCAAGCAATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTATAGGTGCCAGCCACCAAGCCCGGCTAATTTTTGTATTTTTAGTAGAGACAGTTTCACCATGTTGGCCAGGCTGGTCTCGAACTCCTGACCTCAGGTGATCCACCCTCCTCAGCCTCCCAAAGTGCTGGGATTACATGTGTGAGCCACTGTGCCTGGCTGCTTGTTCTTTTAAGAACCAAATATCCTACTAGACTGCAATCGAGTTTAACTACAGTCTATAGATAGTGTGAGGAAGGGTTGGGAAGGTGATCAAATGAAGGCTGGAGGCTTGCTTAGGTCAGAAACATTTCTGGAGGATGACTTTGAGCCCTACATGGTCTGTACCCCAGCAGCTGAAGGTTGTTGAGGGGTGGGGAGGGCTGAAAACAGAACGATAAAGCATAGACCTTGTCTCCAAGGAATGCACAATTTATGGAGGGAGCTCAAACCCAAGCCTCAAACTCTGGATACAA
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GGACCAAGGAAGCAGCTGGGGTGGGAAGGGCTCACCTAGAGGCTAAGTGGCTCCCCTGGGAGTTGGGTCCACACTTTGAAGTTGGGTCTGGACTTTGAAGTGCCAAGTTCTAAGAGTCCAGGCTCCTGCCTGGCCCAGTCCAGTAGAGGCAATGTGATTATCCCCATATTAAAGAGAGGTTGGCCGGGTGCAGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAAGCTGAGGCAGGTGGATCACCTGAGGTCAGGAGTTCGAGACCAGCCTGGCCAACATGGTGAAACCCCATCTCTACTGAAAATACAGAATTAGCTGTGTGGTGGTGCACGCCTGTAATCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATCGCTTGAACCCGGGAGGTGGAGGTTGCAGTGAGCTGAGATCATGCCACTGCACTCCAGCCTGGGCGACACAGCAAGACTCTGTCTCAAACAAACAAACAAACAAACAAACAAAGGGGTTAACAGAGCCCCTAAGTCACATAAGTGTGCAAGTCAGAACAAGGCCTTGGTCTCCTGTCTCAGACTCCCAGCCCCTGGAGCATCCTGATTTCAGGGTTCCCACCTAGCCCTTTGCTACCACATCCTCCTCCTCCTCCCAGGTGGTGACTGTGGCGGTGTACAGCTTCTTCCTGACTTGTCTAGTTGGGCGGCAGTTTCTGAACCCAGCCAAGGCCTACCCTGGCCATGAGCTGGACCTCGTTGTGCCCGTCTTCACGTTCCTGCAGTTCTTCTTCTATGTTGGCTGGCTGAAGGTGGGCCTCTCCAGGGCCCTGCTGGGCTGGAGGCATGGCCAGAGGGGTCATGGCCAGCAGCTGCCTGAGACGAGGATGCAGTGTCAGGAAAGGAAGGTCTCACGGGTAGAAAGCAGCCAGGCGTGGTGGCGCACACCTGTAATCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATCGCTTGAACCCGGGAGGCGGAGGTTGTGGTGAGTTGAGATCGTGCCACTGCACTCCAGCCTGGGCAAAAGAATGAAACTCTATCTCAAAAACAACAACAACAACAAAACAAAGCCCTAAGGTTCAGAAGCCCCTGCCCTTTAGAAGGCAGATCGGCACCACCTCTCCTTATTCAAGATGCCTGTTGGGCTGTCTTGTTCCTCACCTCAAGTGGCTTGTCCAGGTATTCCCTCCCACCACAGCCAATACTCCGAACAGATGTTCTGAATCACACAGTTTTCTCTCCACCTCTTTATCTTTCCTTCCTTCTGTTGCCCACCCACTCTCTCTCCCTTCCTACCTTCCTTTATTTTTTGGTAATGGGGGTGTAAGTCTCTGTCTCTGCCCTTCCTGTCACTGTGACACACACACACACACACACACACACACACACATACACACACACACACACGCATTCCTATTCCTCTAAATTCCCCCTGCCCCCCCAGTTATCTTTGGTTTCTGCAGATCAAAACAAATCACACTTTTATGCTTGAAATTCTCCGGGGTGCCCCAGTGGCCTGCAAGATGTCCCCTGGACCCCTAAGGCAGACGCGTGTCACCTCTTCGGGGCTTTGTTAGGGCATTTTAGAGGTTGCTATCCAGGAATCTGCCCACCTAGACTGCCCTTTAGTTCAGCCCAGCTTCAGTATATATCTCTGTTGCATGAATGAATAAAATTATGCAACTCCAGGTAAGATACATGAGGTGAGATAAAGGCAGTGACTCAGCCGAGTGATACACTCAGGGACAGCTGTGGGTGTTCAGGGAAGGACTGGCTCAGAAGAGTTAGAGGGGCTGTGTCCAGAAGTGTGTGGGTGCCCACAAGTGTGGGGGGCTGGAGCCCTAAACTCTGCCTTTGAAGACAGTGGTCAGGCAGGAAGGGCGTCATGGGGTGTGGAAATAGCAGCAGCTGAGGTTTAAAGGGGGAAGCTGGCTTTGAGGAGTTCTGCCTGAGGGTTTACAGAGCCTCACCTGTCCCCAAGGTGGCAGAGCAGCTCATCAACCCCTTTGGAGAGGATGATGATGATTTTGAGACCAACTGGATTGGCGACAGGAATTTGCAGGTATGGGGAGAGGGAGAGAAACCATACCATGGACCTTCCCCAAAGTGGACCCAAAGAGAGGACCCCACTGTTCTGTAGGGAGGCCTCACAGTGAATGATCAACCCTTCCCCTCCTCCCTCCTGCAGCCAGTCATTCACTCACAGGATTCTCACCTCAATCTTTGAGGCTGCAGGCAGGCACCCATCTCCCCATTTCACAGGCAGGGAAACTGAGGTCCAGAGAGAGGGAGAGATTCCTCCAAGTCATCAGGCACATACAAGGTCCTGCCTGGGATGATCTTTCTGTGGGACTTCTTCTGTCCCTGGTGACCAGGTGTCCCTGTTGGCTGTGGATGAGATGCACCAGGACCTGCCTCGGATGGAGCCGGACATGTACTGGAATAAGCCCGAGCCACAGCCCCCCTACACAGCTGCTTCCGCCCAGTTCCGTCGAGCCTCCTTTATGGGCTCCACCTTCAACATCAGGTGTGGCCAGAGCCAGGGGGCTGGGTGGGAAGCCCCTCCTAGTGCAGGGGTCTGCCTAGGAACTTAGAATAGCACTAGTTAATGCATACAGGTTGCTTCAGTAAGTGTCAGGCACTGTACTATGCTCTTTATAAACATTAACTATTTTTTTCCTCCCAATAATTCTGGTTTGTTATCCCAAGTTTTCAGATAATTAAAGTACAGGTTCAGAGAGAGTAAGTTGTCCAAGGCCACATAGCTACCAAATGGTGCATTTGCTACTCGAAGGACAGCCTGTGATCAGTGATGCAGTGGAACGTTAGGACCTGGCTCTTGTCATCCAGAACTATGTTTTCTTTTCTTTTTGAGACAGTATCTCGCTCTGTCGCCCAGGTTGGAGCGCAGTGGCGTGATCTTGGCTCACTGCAACCTCCGCCTCCTGGGTTCAAGTGATTCTCCTGCTTCAGCCTCCCCAGTAGCTGGGATTACAGGTGCCCACAACCACAACTGGCTAATTTTTGTACTTTTAGTAGAGATGAGGTTTCACCATGTTGGCCAGGCTGGTCTCCAACTCCTGACCAGTAATCTGCCCGCTTTGGCCTCCCAAAATGCTGGAATTATAGGTGTCAAAACTATGTTTTCTGATAAGCTACGATGCTTGGATGGGAAGTGGAAGTGGGGTTCCCTGGGATGGGGGAGGGGCAGCAAAGTCCCAGCAGGCAGCCAGGCCATCACAGGTACCTCCTGAATTGACTTTGTCCTACCGAGTAAAGGGCTCAGGCCACCCACAGCAGCCAGACTTATCCCCACATGGTCCCACTTCCCTGATTCCATCTGAATCCCTCTTGAGCTGCAGTGGGCTGAAGGGCTATCCCAGCTGGTCCTTTCTCCCCAGGACAACAGAGTTGAAAGTGCCTTGGAGAGTGTTGGGCACATGTCAGGGTTCATACTCAAGGGTTTCTTCCACGGTATCCAGTGCTGTTCTCGCTTGTTCTTTTCTTTTTTTTTTTTTAAACGGAGTTTCACTCTTGTTGCCCAGAGCTGGAGTGCAGTGGCATAATCTCGGCTCACTGCAACCTCCGCCTCCCAGATTCAAGCAATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTATAGGTGCCAGCCACCAAGCCCGGCTAATTTTTGTATTTTTAGTAGAGACAGTTTCACCATGTTGGCCAGGCTGGTCTCGAACTCCTGACCTCAGGTGATCCACCCTCCTCAGCCTCCCAAAGTGCTGGGATTACATGTGTGAGCCACTGTGCCTGGCTGCTTGTTCTTTTAAGAACCAAATATCCTACTAGACTGCAATCGAGTTTAACTACAGTCTATAGATAGTGTGAGGAAGGGTTGGGAAGGTGATCAAATGAAGGCTGGAGGCTTGCTTAGGTCAGAAACATTTCTGGAGGATGACTTTGAGCCCTACATGGTCTGTACCCCAGCAGCTGAAGGTTGTTGAGGGGTGGGGAGGGCTGAAAACAGAACGATAAAGCATAGACCTTGTCTCCAAGGAATGCACAATTTATGGAGGGAGCTCAAACCCAAGCCTCAAACTCTGGATACAA
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Task1_train_15968
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A genomic change on Chromosome 11 affects BEST1 (bestrophin 1). Classify this variant as benign or pathogenic, and name the disease if relevant.
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Pathogenic; Retinal dystrophy
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ACCAAGGAAGCAGCTGGGGTGGGAAGGGCTCACCTAGAGGCTAAGTGGCTCCCCTGGGAGTTGGGTCCACACTTTGAAGTTGGGTCTGGACTTTGAAGTGCCAAGTTCTAAGAGTCCAGGCTCCTGCCTGGCCCAGTCCAGTAGAGGCAATGTGATTATCCCCATATTAAAGAGAGGTTGGCCGGGTGCAGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAAGCTGAGGCAGGTGGATCACCTGAGGTCAGGAGTTCGAGACCAGCCTGGCCAACATGGTGAAACCCCATCTCTACTGAAAATACAGAATTAGCTGTGTGGTGGTGCACGCCTGTAATCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATCGCTTGAACCCGGGAGGTGGAGGTTGCAGTGAGCTGAGATCATGCCACTGCACTCCAGCCTGGGCGACACAGCAAGACTCTGTCTCAAACAAACAAACAAACAAACAAACAAAGGGGTTAACAGAGCCCCTAAGTCACATAAGTGTGCAAGTCAGAACAAGGCCTTGGTCTCCTGTCTCAGACTCCCAGCCCCTGGAGCATCCTGATTTCAGGGTTCCCACCTAGCCCTTTGCTACCACATCCTCCTCCTCCTCCCAGGTGGTGACTGTGGCGGTGTACAGCTTCTTCCTGACTTGTCTAGTTGGGCGGCAGTTTCTGAACCCAGCCAAGGCCTACCCTGGCCATGAGCTGGACCTCGTTGTGCCCGTCTTCACGTTCCTGCAGTTCTTCTTCTATGTTGGCTGGCTGAAGGTGGGCCTCTCCAGGGCCCTGCTGGGCTGGAGGCATGGCCAGAGGGGTCATGGCCAGCAGCTGCCTGAGACGAGGATGCAGTGTCAGGAAAGGAAGGTCTCACGGGTAGAAAGCAGCCAGGCGTGGTGGCGCACACCTGTAATCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATCGCTTGAACCCGGGAGGCGGAGGTTGTGGTGAGTTGAGATCGTGCCACTGCACTCCAGCCTGGGCAAAAGAATGAAACTCTATCTCAAAAACAACAACAACAACAAAACAAAGCCCTAAGGTTCAGAAGCCCCTGCCCTTTAGAAGGCAGATCGGCACCACCTCTCCTTATTCAAGATGCCTGTTGGGCTGTCTTGTTCCTCACCTCAAGTGGCTTGTCCAGGTATTCCCTCCCACCACAGCCAATACTCCGAACAGATGTTCTGAATCACACAGTTTTCTCTCCACCTCTTTATCTTTCCTTCCTTCTGTTGCCCACCCACTCTCTCTCCCTTCCTACCTTCCTTTATTTTTTGGTAATGGGGGTGTAAGTCTCTGTCTCTGCCCTTCCTGTCACTGTGACACACACACACACACACACACACACACACACATACACACACACACACACGCATTCCTATTCCTCTAAATTCCCCCTGCCCCCCCAGTTATCTTTGGTTTCTGCAGATCAAAACAAATCACACTTTTATGCTTGAAATTCTCCGGGGTGCCCCAGTGGCCTGCAAGATGTCCCCTGGACCCCTAAGGCAGACGCGTGTCACCTCTTCGGGGCTTTGTTAGGGCATTTTAGAGGTTGCTATCCAGGAATCTGCCCACCTAGACTGCCCTTTAGTTCAGCCCAGCTTCAGTATATATCTCTGTTGCATGAATGAATAAAATTATGCAACTCCAGGTAAGATACATGAGGTGAGATAAAGGCAGTGACTCAGCCGAGTGATACACTCAGGGACAGCTGTGGGTGTTCAGGGAAGGACTGGCTCAGAAGAGTTAGAGGGGCTGTGTCCAGAAGTGTGTGGGTGCCCACAAGTGTGGGGGGCTGGAGCCCTAAACTCTGCCTTTGAAGACAGTGGTCAGGCAGGAAGGGCGTCATGGGGTGTGGAAATAGCAGCAGCTGAGGTTTAAAGGGGGAAGCTGGCTTTGAGGAGTTCTGCCTGAGGGTTTACAGAGCCTCACCTGTCCCCAAGGTGGCAGAGCAGCTCATCAACCCCTTTGGAGAGGATGATGATGATTTTGAGACCAACTGGATTGTCGACAGGAATTTGCAGGTATGGGGAGAGGGAGAGAAACCATACCATGGACCTTCCCCAAAGTGGACCCAAAGAGAGGACCCCACTGTTCTGTAGGGAGGCCTCACAGTGAATGATCAACCCTTCCCCTCCTCCCTCCTGCAGCCAGTCATTCACTCACAGGATTCTCACCTCAATCTTTGAGGCTGCAGGCAGGCACCCATCTCCCCATTTCACAGGCAGGGAAACTGAGGTCCAGAGAGAGGGAGAGATTCCTCCAAGTCATCAGGCACATACAAGGTCCTGCCTGGGATGATCTTTCTGTGGGACTTCTTCTGTCCCTGGTGACCAGGTGTCCCTGTTGGCTGTGGATGAGATGCACCAGGACCTGCCTCGGATGGAGCCGGACATGTACTGGAATAAGCCCGAGCCACAGCCCCCCTACACAGCTGCTTCCGCCCAGTTCCGTCGAGCCTCCTTTATGGGCTCCACCTTCAACATCAGGTGTGGCCAGAGCCAGGGGGCTGGGTGGGAAGCCCCTCCTAGTGCAGGGGTCTGCCTAGGAACTTAGAATAGCACTAGTTAATGCATACAGGTTGCTTCAGTAAGTGTCAGGCACTGTACTATGCTCTTTATAAACATTAACTATTTTTTTCCTCCCAATAATTCTGGTTTGTTATCCCAAGTTTTCAGATAATTAAAGTACAGGTTCAGAGAGAGTAAGTTGTCCAAGGCCACATAGCTACCAAATGGTGCATTTGCTACTCGAAGGACAGCCTGTGATCAGTGATGCAGTGGAACGTTAGGACCTGGCTCTTGTCATCCAGAACTATGTTTTCTTTTCTTTTTGAGACAGTATCTCGCTCTGTCGCCCAGGTTGGAGCGCAGTGGCGTGATCTTGGCTCACTGCAACCTCCGCCTCCTGGGTTCAAGTGATTCTCCTGCTTCAGCCTCCCCAGTAGCTGGGATTACAGGTGCCCACAACCACAACTGGCTAATTTTTGTACTTTTAGTAGAGATGAGGTTTCACCATGTTGGCCAGGCTGGTCTCCAACTCCTGACCAGTAATCTGCCCGCTTTGGCCTCCCAAAATGCTGGAATTATAGGTGTCAAAACTATGTTTTCTGATAAGCTACGATGCTTGGATGGGAAGTGGAAGTGGGGTTCCCTGGGATGGGGGAGGGGCAGCAAAGTCCCAGCAGGCAGCCAGGCCATCACAGGTACCTCCTGAATTGACTTTGTCCTACCGAGTAAAGGGCTCAGGCCACCCACAGCAGCCAGACTTATCCCCACATGGTCCCACTTCCCTGATTCCATCTGAATCCCTCTTGAGCTGCAGTGGGCTGAAGGGCTATCCCAGCTGGTCCTTTCTCCCCAGGACAACAGAGTTGAAAGTGCCTTGGAGAGTGTTGGGCACATGTCAGGGTTCATACTCAAGGGTTTCTTCCACGGTATCCAGTGCTGTTCTCGCTTGTTCTTTTCTTTTTTTTTTTTTAAACGGAGTTTCACTCTTGTTGCCCAGAGCTGGAGTGCAGTGGCATAATCTCGGCTCACTGCAACCTCCGCCTCCCAGATTCAAGCAATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTATAGGTGCCAGCCACCAAGCCCGGCTAATTTTTGTATTTTTAGTAGAGACAGTTTCACCATGTTGGCCAGGCTGGTCTCGAACTCCTGACCTCAGGTGATCCACCCTCCTCAGCCTCCCAAAGTGCTGGGATTACATGTGTGAGCCACTGTGCCTGGCTGCTTGTTCTTTTAAGAACCAAATATCCTACTAGACTGCAATCGAGTTTAACTACAGTCTATAGATAGTGTGAGGAAGGGTTGGGAAGGTGATCAAATGAAGGCTGGAGGCTTGCTTAGGTCAGAAACATTTCTGGAGGATGACTTTGAGCCCTACATGGTCTGTACCCCAGCAGCTGAAGGTTGTTGAGGGGTGGGGAGGGCTGAAAACAGAACGATAAAGCATAGACCTTGTCTCCAAGGAATGCACAATTTATGGAGGGAGCTCAAACCCAAGCCTCAAACTCTGGATACAAGG
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ACCAAGGAAGCAGCTGGGGTGGGAAGGGCTCACCTAGAGGCTAAGTGGCTCCCCTGGGAGTTGGGTCCACACTTTGAAGTTGGGTCTGGACTTTGAAGTGCCAAGTTCTAAGAGTCCAGGCTCCTGCCTGGCCCAGTCCAGTAGAGGCAATGTGATTATCCCCATATTAAAGAGAGGTTGGCCGGGTGCAGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAAGCTGAGGCAGGTGGATCACCTGAGGTCAGGAGTTCGAGACCAGCCTGGCCAACATGGTGAAACCCCATCTCTACTGAAAATACAGAATTAGCTGTGTGGTGGTGCACGCCTGTAATCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATCGCTTGAACCCGGGAGGTGGAGGTTGCAGTGAGCTGAGATCATGCCACTGCACTCCAGCCTGGGCGACACAGCAAGACTCTGTCTCAAACAAACAAACAAACAAACAAACAAAGGGGTTAACAGAGCCCCTAAGTCACATAAGTGTGCAAGTCAGAACAAGGCCTTGGTCTCCTGTCTCAGACTCCCAGCCCCTGGAGCATCCTGATTTCAGGGTTCCCACCTAGCCCTTTGCTACCACATCCTCCTCCTCCTCCCAGGTGGTGACTGTGGCGGTGTACAGCTTCTTCCTGACTTGTCTAGTTGGGCGGCAGTTTCTGAACCCAGCCAAGGCCTACCCTGGCCATGAGCTGGACCTCGTTGTGCCCGTCTTCACGTTCCTGCAGTTCTTCTTCTATGTTGGCTGGCTGAAGGTGGGCCTCTCCAGGGCCCTGCTGGGCTGGAGGCATGGCCAGAGGGGTCATGGCCAGCAGCTGCCTGAGACGAGGATGCAGTGTCAGGAAAGGAAGGTCTCACGGGTAGAAAGCAGCCAGGCGTGGTGGCGCACACCTGTAATCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATCGCTTGAACCCGGGAGGCGGAGGTTGTGGTGAGTTGAGATCGTGCCACTGCACTCCAGCCTGGGCAAAAGAATGAAACTCTATCTCAAAAACAACAACAACAACAAAACAAAGCCCTAAGGTTCAGAAGCCCCTGCCCTTTAGAAGGCAGATCGGCACCACCTCTCCTTATTCAAGATGCCTGTTGGGCTGTCTTGTTCCTCACCTCAAGTGGCTTGTCCAGGTATTCCCTCCCACCACAGCCAATACTCCGAACAGATGTTCTGAATCACACAGTTTTCTCTCCACCTCTTTATCTTTCCTTCCTTCTGTTGCCCACCCACTCTCTCTCCCTTCCTACCTTCCTTTATTTTTTGGTAATGGGGGTGTAAGTCTCTGTCTCTGCCCTTCCTGTCACTGTGACACACACACACACACACACACACACACACACATACACACACACACACACGCATTCCTATTCCTCTAAATTCCCCCTGCCCCCCCAGTTATCTTTGGTTTCTGCAGATCAAAACAAATCACACTTTTATGCTTGAAATTCTCCGGGGTGCCCCAGTGGCCTGCAAGATGTCCCCTGGACCCCTAAGGCAGACGCGTGTCACCTCTTCGGGGCTTTGTTAGGGCATTTTAGAGGTTGCTATCCAGGAATCTGCCCACCTAGACTGCCCTTTAGTTCAGCCCAGCTTCAGTATATATCTCTGTTGCATGAATGAATAAAATTATGCAACTCCAGGTAAGATACATGAGGTGAGATAAAGGCAGTGACTCAGCCGAGTGATACACTCAGGGACAGCTGTGGGTGTTCAGGGAAGGACTGGCTCAGAAGAGTTAGAGGGGCTGTGTCCAGAAGTGTGTGGGTGCCCACAAGTGTGGGGGGCTGGAGCCCTAAACTCTGCCTTTGAAGACAGTGGTCAGGCAGGAAGGGCGTCATGGGGTGTGGAAATAGCAGCAGCTGAGGTTTAAAGGGGGAAGCTGGCTTTGAGGAGTTCTGCCTGAGGGTTTACAGAGCCTCACCTGTCCCCAAGGTGGCAGAGCAGCTCATCAACCCCTTTGGAGAGGATGATGATGATTTTGAGACCAACTGGATTGTCAACAGGAATTTGCAGGTATGGGGAGAGGGAGAGAAACCATACCATGGACCTTCCCCAAAGTGGACCCAAAGAGAGGACCCCACTGTTCTGTAGGGAGGCCTCACAGTGAATGATCAACCCTTCCCCTCCTCCCTCCTGCAGCCAGTCATTCACTCACAGGATTCTCACCTCAATCTTTGAGGCTGCAGGCAGGCACCCATCTCCCCATTTCACAGGCAGGGAAACTGAGGTCCAGAGAGAGGGAGAGATTCCTCCAAGTCATCAGGCACATACAAGGTCCTGCCTGGGATGATCTTTCTGTGGGACTTCTTCTGTCCCTGGTGACCAGGTGTCCCTGTTGGCTGTGGATGAGATGCACCAGGACCTGCCTCGGATGGAGCCGGACATGTACTGGAATAAGCCCGAGCCACAGCCCCCCTACACAGCTGCTTCCGCCCAGTTCCGTCGAGCCTCCTTTATGGGCTCCACCTTCAACATCAGGTGTGGCCAGAGCCAGGGGGCTGGGTGGGAAGCCCCTCCTAGTGCAGGGGTCTGCCTAGGAACTTAGAATAGCACTAGTTAATGCATACAGGTTGCTTCAGTAAGTGTCAGGCACTGTACTATGCTCTTTATAAACATTAACTATTTTTTTCCTCCCAATAATTCTGGTTTGTTATCCCAAGTTTTCAGATAATTAAAGTACAGGTTCAGAGAGAGTAAGTTGTCCAAGGCCACATAGCTACCAAATGGTGCATTTGCTACTCGAAGGACAGCCTGTGATCAGTGATGCAGTGGAACGTTAGGACCTGGCTCTTGTCATCCAGAACTATGTTTTCTTTTCTTTTTGAGACAGTATCTCGCTCTGTCGCCCAGGTTGGAGCGCAGTGGCGTGATCTTGGCTCACTGCAACCTCCGCCTCCTGGGTTCAAGTGATTCTCCTGCTTCAGCCTCCCCAGTAGCTGGGATTACAGGTGCCCACAACCACAACTGGCTAATTTTTGTACTTTTAGTAGAGATGAGGTTTCACCATGTTGGCCAGGCTGGTCTCCAACTCCTGACCAGTAATCTGCCCGCTTTGGCCTCCCAAAATGCTGGAATTATAGGTGTCAAAACTATGTTTTCTGATAAGCTACGATGCTTGGATGGGAAGTGGAAGTGGGGTTCCCTGGGATGGGGGAGGGGCAGCAAAGTCCCAGCAGGCAGCCAGGCCATCACAGGTACCTCCTGAATTGACTTTGTCCTACCGAGTAAAGGGCTCAGGCCACCCACAGCAGCCAGACTTATCCCCACATGGTCCCACTTCCCTGATTCCATCTGAATCCCTCTTGAGCTGCAGTGGGCTGAAGGGCTATCCCAGCTGGTCCTTTCTCCCCAGGACAACAGAGTTGAAAGTGCCTTGGAGAGTGTTGGGCACATGTCAGGGTTCATACTCAAGGGTTTCTTCCACGGTATCCAGTGCTGTTCTCGCTTGTTCTTTTCTTTTTTTTTTTTTAAACGGAGTTTCACTCTTGTTGCCCAGAGCTGGAGTGCAGTGGCATAATCTCGGCTCACTGCAACCTCCGCCTCCCAGATTCAAGCAATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTATAGGTGCCAGCCACCAAGCCCGGCTAATTTTTGTATTTTTAGTAGAGACAGTTTCACCATGTTGGCCAGGCTGGTCTCGAACTCCTGACCTCAGGTGATCCACCCTCCTCAGCCTCCCAAAGTGCTGGGATTACATGTGTGAGCCACTGTGCCTGGCTGCTTGTTCTTTTAAGAACCAAATATCCTACTAGACTGCAATCGAGTTTAACTACAGTCTATAGATAGTGTGAGGAAGGGTTGGGAAGGTGATCAAATGAAGGCTGGAGGCTTGCTTAGGTCAGAAACATTTCTGGAGGATGACTTTGAGCCCTACATGGTCTGTACCCCAGCAGCTGAAGGTTGTTGAGGGGTGGGGAGGGCTGAAAACAGAACGATAAAGCATAGACCTTGTCTCCAAGGAATGCACAATTTATGGAGGGAGCTCAAACCCAAGCCTCAAACTCTGGATACAAGG
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Task1_train_15969
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This mutation occurs in BEST1 (bestrophin 1) on Chromosome 11. Does this change lead to a known medical condition, or is it benign?
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Pathogenic; not provided
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CAAGGAAGCAGCTGGGGTGGGAAGGGCTCACCTAGAGGCTAAGTGGCTCCCCTGGGAGTTGGGTCCACACTTTGAAGTTGGGTCTGGACTTTGAAGTGCCAAGTTCTAAGAGTCCAGGCTCCTGCCTGGCCCAGTCCAGTAGAGGCAATGTGATTATCCCCATATTAAAGAGAGGTTGGCCGGGTGCAGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAAGCTGAGGCAGGTGGATCACCTGAGGTCAGGAGTTCGAGACCAGCCTGGCCAACATGGTGAAACCCCATCTCTACTGAAAATACAGAATTAGCTGTGTGGTGGTGCACGCCTGTAATCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATCGCTTGAACCCGGGAGGTGGAGGTTGCAGTGAGCTGAGATCATGCCACTGCACTCCAGCCTGGGCGACACAGCAAGACTCTGTCTCAAACAAACAAACAAACAAACAAACAAAGGGGTTAACAGAGCCCCTAAGTCACATAAGTGTGCAAGTCAGAACAAGGCCTTGGTCTCCTGTCTCAGACTCCCAGCCCCTGGAGCATCCTGATTTCAGGGTTCCCACCTAGCCCTTTGCTACCACATCCTCCTCCTCCTCCCAGGTGGTGACTGTGGCGGTGTACAGCTTCTTCCTGACTTGTCTAGTTGGGCGGCAGTTTCTGAACCCAGCCAAGGCCTACCCTGGCCATGAGCTGGACCTCGTTGTGCCCGTCTTCACGTTCCTGCAGTTCTTCTTCTATGTTGGCTGGCTGAAGGTGGGCCTCTCCAGGGCCCTGCTGGGCTGGAGGCATGGCCAGAGGGGTCATGGCCAGCAGCTGCCTGAGACGAGGATGCAGTGTCAGGAAAGGAAGGTCTCACGGGTAGAAAGCAGCCAGGCGTGGTGGCGCACACCTGTAATCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATCGCTTGAACCCGGGAGGCGGAGGTTGTGGTGAGTTGAGATCGTGCCACTGCACTCCAGCCTGGGCAAAAGAATGAAACTCTATCTCAAAAACAACAACAACAACAAAACAAAGCCCTAAGGTTCAGAAGCCCCTGCCCTTTAGAAGGCAGATCGGCACCACCTCTCCTTATTCAAGATGCCTGTTGGGCTGTCTTGTTCCTCACCTCAAGTGGCTTGTCCAGGTATTCCCTCCCACCACAGCCAATACTCCGAACAGATGTTCTGAATCACACAGTTTTCTCTCCACCTCTTTATCTTTCCTTCCTTCTGTTGCCCACCCACTCTCTCTCCCTTCCTACCTTCCTTTATTTTTTGGTAATGGGGGTGTAAGTCTCTGTCTCTGCCCTTCCTGTCACTGTGACACACACACACACACACACACACACACACACATACACACACACACACACGCATTCCTATTCCTCTAAATTCCCCCTGCCCCCCCAGTTATCTTTGGTTTCTGCAGATCAAAACAAATCACACTTTTATGCTTGAAATTCTCCGGGGTGCCCCAGTGGCCTGCAAGATGTCCCCTGGACCCCTAAGGCAGACGCGTGTCACCTCTTCGGGGCTTTGTTAGGGCATTTTAGAGGTTGCTATCCAGGAATCTGCCCACCTAGACTGCCCTTTAGTTCAGCCCAGCTTCAGTATATATCTCTGTTGCATGAATGAATAAAATTATGCAACTCCAGGTAAGATACATGAGGTGAGATAAAGGCAGTGACTCAGCCGAGTGATACACTCAGGGACAGCTGTGGGTGTTCAGGGAAGGACTGGCTCAGAAGAGTTAGAGGGGCTGTGTCCAGAAGTGTGTGGGTGCCCACAAGTGTGGGGGGCTGGAGCCCTAAACTCTGCCTTTGAAGACAGTGGTCAGGCAGGAAGGGCGTCATGGGGTGTGGAAATAGCAGCAGCTGAGGTTTAAAGGGGGAAGCTGGCTTTGAGGAGTTCTGCCTGAGGGTTTACAGAGCCTCACCTGTCCCCAAGGTGGCAGAGCAGCTCATCAACCCCTTTGGAGAGGATGATGATGATTTTGAGACCAACTGGATTGTCGACAGGAATTTGCAGGTATGGGGAGAGGGAGAGAAACCATACCATGGACCTTCCCCAAAGTGGACCCAAAGAGAGGACCCCACTGTTCTGTAGGGAGGCCTCACAGTGAATGATCAACCCTTCCCCTCCTCCCTCCTGCAGCCAGTCATTCACTCACAGGATTCTCACCTCAATCTTTGAGGCTGCAGGCAGGCACCCATCTCCCCATTTCACAGGCAGGGAAACTGAGGTCCAGAGAGAGGGAGAGATTCCTCCAAGTCATCAGGCACATACAAGGTCCTGCCTGGGATGATCTTTCTGTGGGACTTCTTCTGTCCCTGGTGACCAGGTGTCCCTGTTGGCTGTGGATGAGATGCACCAGGACCTGCCTCGGATGGAGCCGGACATGTACTGGAATAAGCCCGAGCCACAGCCCCCCTACACAGCTGCTTCCGCCCAGTTCCGTCGAGCCTCCTTTATGGGCTCCACCTTCAACATCAGGTGTGGCCAGAGCCAGGGGGCTGGGTGGGAAGCCCCTCCTAGTGCAGGGGTCTGCCTAGGAACTTAGAATAGCACTAGTTAATGCATACAGGTTGCTTCAGTAAGTGTCAGGCACTGTACTATGCTCTTTATAAACATTAACTATTTTTTTCCTCCCAATAATTCTGGTTTGTTATCCCAAGTTTTCAGATAATTAAAGTACAGGTTCAGAGAGAGTAAGTTGTCCAAGGCCACATAGCTACCAAATGGTGCATTTGCTACTCGAAGGACAGCCTGTGATCAGTGATGCAGTGGAACGTTAGGACCTGGCTCTTGTCATCCAGAACTATGTTTTCTTTTCTTTTTGAGACAGTATCTCGCTCTGTCGCCCAGGTTGGAGCGCAGTGGCGTGATCTTGGCTCACTGCAACCTCCGCCTCCTGGGTTCAAGTGATTCTCCTGCTTCAGCCTCCCCAGTAGCTGGGATTACAGGTGCCCACAACCACAACTGGCTAATTTTTGTACTTTTAGTAGAGATGAGGTTTCACCATGTTGGCCAGGCTGGTCTCCAACTCCTGACCAGTAATCTGCCCGCTTTGGCCTCCCAAAATGCTGGAATTATAGGTGTCAAAACTATGTTTTCTGATAAGCTACGATGCTTGGATGGGAAGTGGAAGTGGGGTTCCCTGGGATGGGGGAGGGGCAGCAAAGTCCCAGCAGGCAGCCAGGCCATCACAGGTACCTCCTGAATTGACTTTGTCCTACCGAGTAAAGGGCTCAGGCCACCCACAGCAGCCAGACTTATCCCCACATGGTCCCACTTCCCTGATTCCATCTGAATCCCTCTTGAGCTGCAGTGGGCTGAAGGGCTATCCCAGCTGGTCCTTTCTCCCCAGGACAACAGAGTTGAAAGTGCCTTGGAGAGTGTTGGGCACATGTCAGGGTTCATACTCAAGGGTTTCTTCCACGGTATCCAGTGCTGTTCTCGCTTGTTCTTTTCTTTTTTTTTTTTTAAACGGAGTTTCACTCTTGTTGCCCAGAGCTGGAGTGCAGTGGCATAATCTCGGCTCACTGCAACCTCCGCCTCCCAGATTCAAGCAATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTATAGGTGCCAGCCACCAAGCCCGGCTAATTTTTGTATTTTTAGTAGAGACAGTTTCACCATGTTGGCCAGGCTGGTCTCGAACTCCTGACCTCAGGTGATCCACCCTCCTCAGCCTCCCAAAGTGCTGGGATTACATGTGTGAGCCACTGTGCCTGGCTGCTTGTTCTTTTAAGAACCAAATATCCTACTAGACTGCAATCGAGTTTAACTACAGTCTATAGATAGTGTGAGGAAGGGTTGGGAAGGTGATCAAATGAAGGCTGGAGGCTTGCTTAGGTCAGAAACATTTCTGGAGGATGACTTTGAGCCCTACATGGTCTGTACCCCAGCAGCTGAAGGTTGTTGAGGGGTGGGGAGGGCTGAAAACAGAACGATAAAGCATAGACCTTGTCTCCAAGGAATGCACAATTTATGGAGGGAGCTCAAACCCAAGCCTCAAACTCTGGATACAAGGTA
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CAAGGAAGCAGCTGGGGTGGGAAGGGCTCACCTAGAGGCTAAGTGGCTCCCCTGGGAGTTGGGTCCACACTTTGAAGTTGGGTCTGGACTTTGAAGTGCCAAGTTCTAAGAGTCCAGGCTCCTGCCTGGCCCAGTCCAGTAGAGGCAATGTGATTATCCCCATATTAAAGAGAGGTTGGCCGGGTGCAGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAAGCTGAGGCAGGTGGATCACCTGAGGTCAGGAGTTCGAGACCAGCCTGGCCAACATGGTGAAACCCCATCTCTACTGAAAATACAGAATTAGCTGTGTGGTGGTGCACGCCTGTAATCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATCGCTTGAACCCGGGAGGTGGAGGTTGCAGTGAGCTGAGATCATGCCACTGCACTCCAGCCTGGGCGACACAGCAAGACTCTGTCTCAAACAAACAAACAAACAAACAAACAAAGGGGTTAACAGAGCCCCTAAGTCACATAAGTGTGCAAGTCAGAACAAGGCCTTGGTCTCCTGTCTCAGACTCCCAGCCCCTGGAGCATCCTGATTTCAGGGTTCCCACCTAGCCCTTTGCTACCACATCCTCCTCCTCCTCCCAGGTGGTGACTGTGGCGGTGTACAGCTTCTTCCTGACTTGTCTAGTTGGGCGGCAGTTTCTGAACCCAGCCAAGGCCTACCCTGGCCATGAGCTGGACCTCGTTGTGCCCGTCTTCACGTTCCTGCAGTTCTTCTTCTATGTTGGCTGGCTGAAGGTGGGCCTCTCCAGGGCCCTGCTGGGCTGGAGGCATGGCCAGAGGGGTCATGGCCAGCAGCTGCCTGAGACGAGGATGCAGTGTCAGGAAAGGAAGGTCTCACGGGTAGAAAGCAGCCAGGCGTGGTGGCGCACACCTGTAATCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATCGCTTGAACCCGGGAGGCGGAGGTTGTGGTGAGTTGAGATCGTGCCACTGCACTCCAGCCTGGGCAAAAGAATGAAACTCTATCTCAAAAACAACAACAACAACAAAACAAAGCCCTAAGGTTCAGAAGCCCCTGCCCTTTAGAAGGCAGATCGGCACCACCTCTCCTTATTCAAGATGCCTGTTGGGCTGTCTTGTTCCTCACCTCAAGTGGCTTGTCCAGGTATTCCCTCCCACCACAGCCAATACTCCGAACAGATGTTCTGAATCACACAGTTTTCTCTCCACCTCTTTATCTTTCCTTCCTTCTGTTGCCCACCCACTCTCTCTCCCTTCCTACCTTCCTTTATTTTTTGGTAATGGGGGTGTAAGTCTCTGTCTCTGCCCTTCCTGTCACTGTGACACACACACACACACACACACACACACACACATACACACACACACACACGCATTCCTATTCCTCTAAATTCCCCCTGCCCCCCCAGTTATCTTTGGTTTCTGCAGATCAAAACAAATCACACTTTTATGCTTGAAATTCTCCGGGGTGCCCCAGTGGCCTGCAAGATGTCCCCTGGACCCCTAAGGCAGACGCGTGTCACCTCTTCGGGGCTTTGTTAGGGCATTTTAGAGGTTGCTATCCAGGAATCTGCCCACCTAGACTGCCCTTTAGTTCAGCCCAGCTTCAGTATATATCTCTGTTGCATGAATGAATAAAATTATGCAACTCCAGGTAAGATACATGAGGTGAGATAAAGGCAGTGACTCAGCCGAGTGATACACTCAGGGACAGCTGTGGGTGTTCAGGGAAGGACTGGCTCAGAAGAGTTAGAGGGGCTGTGTCCAGAAGTGTGTGGGTGCCCACAAGTGTGGGGGGCTGGAGCCCTAAACTCTGCCTTTGAAGACAGTGGTCAGGCAGGAAGGGCGTCATGGGGTGTGGAAATAGCAGCAGCTGAGGTTTAAAGGGGGAAGCTGGCTTTGAGGAGTTCTGCCTGAGGGTTTACAGAGCCTCACCTGTCCCCAAGGTGGCAGAGCAGCTCATCAACCCCTTTGGAGAGGATGATGATGATTTTGAGACCAACTGGATTGTCGAAAGGAATTTGCAGGTATGGGGAGAGGGAGAGAAACCATACCATGGACCTTCCCCAAAGTGGACCCAAAGAGAGGACCCCACTGTTCTGTAGGGAGGCCTCACAGTGAATGATCAACCCTTCCCCTCCTCCCTCCTGCAGCCAGTCATTCACTCACAGGATTCTCACCTCAATCTTTGAGGCTGCAGGCAGGCACCCATCTCCCCATTTCACAGGCAGGGAAACTGAGGTCCAGAGAGAGGGAGAGATTCCTCCAAGTCATCAGGCACATACAAGGTCCTGCCTGGGATGATCTTTCTGTGGGACTTCTTCTGTCCCTGGTGACCAGGTGTCCCTGTTGGCTGTGGATGAGATGCACCAGGACCTGCCTCGGATGGAGCCGGACATGTACTGGAATAAGCCCGAGCCACAGCCCCCCTACACAGCTGCTTCCGCCCAGTTCCGTCGAGCCTCCTTTATGGGCTCCACCTTCAACATCAGGTGTGGCCAGAGCCAGGGGGCTGGGTGGGAAGCCCCTCCTAGTGCAGGGGTCTGCCTAGGAACTTAGAATAGCACTAGTTAATGCATACAGGTTGCTTCAGTAAGTGTCAGGCACTGTACTATGCTCTTTATAAACATTAACTATTTTTTTCCTCCCAATAATTCTGGTTTGTTATCCCAAGTTTTCAGATAATTAAAGTACAGGTTCAGAGAGAGTAAGTTGTCCAAGGCCACATAGCTACCAAATGGTGCATTTGCTACTCGAAGGACAGCCTGTGATCAGTGATGCAGTGGAACGTTAGGACCTGGCTCTTGTCATCCAGAACTATGTTTTCTTTTCTTTTTGAGACAGTATCTCGCTCTGTCGCCCAGGTTGGAGCGCAGTGGCGTGATCTTGGCTCACTGCAACCTCCGCCTCCTGGGTTCAAGTGATTCTCCTGCTTCAGCCTCCCCAGTAGCTGGGATTACAGGTGCCCACAACCACAACTGGCTAATTTTTGTACTTTTAGTAGAGATGAGGTTTCACCATGTTGGCCAGGCTGGTCTCCAACTCCTGACCAGTAATCTGCCCGCTTTGGCCTCCCAAAATGCTGGAATTATAGGTGTCAAAACTATGTTTTCTGATAAGCTACGATGCTTGGATGGGAAGTGGAAGTGGGGTTCCCTGGGATGGGGGAGGGGCAGCAAAGTCCCAGCAGGCAGCCAGGCCATCACAGGTACCTCCTGAATTGACTTTGTCCTACCGAGTAAAGGGCTCAGGCCACCCACAGCAGCCAGACTTATCCCCACATGGTCCCACTTCCCTGATTCCATCTGAATCCCTCTTGAGCTGCAGTGGGCTGAAGGGCTATCCCAGCTGGTCCTTTCTCCCCAGGACAACAGAGTTGAAAGTGCCTTGGAGAGTGTTGGGCACATGTCAGGGTTCATACTCAAGGGTTTCTTCCACGGTATCCAGTGCTGTTCTCGCTTGTTCTTTTCTTTTTTTTTTTTTAAACGGAGTTTCACTCTTGTTGCCCAGAGCTGGAGTGCAGTGGCATAATCTCGGCTCACTGCAACCTCCGCCTCCCAGATTCAAGCAATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTATAGGTGCCAGCCACCAAGCCCGGCTAATTTTTGTATTTTTAGTAGAGACAGTTTCACCATGTTGGCCAGGCTGGTCTCGAACTCCTGACCTCAGGTGATCCACCCTCCTCAGCCTCCCAAAGTGCTGGGATTACATGTGTGAGCCACTGTGCCTGGCTGCTTGTTCTTTTAAGAACCAAATATCCTACTAGACTGCAATCGAGTTTAACTACAGTCTATAGATAGTGTGAGGAAGGGTTGGGAAGGTGATCAAATGAAGGCTGGAGGCTTGCTTAGGTCAGAAACATTTCTGGAGGATGACTTTGAGCCCTACATGGTCTGTACCCCAGCAGCTGAAGGTTGTTGAGGGGTGGGGAGGGCTGAAAACAGAACGATAAAGCATAGACCTTGTCTCCAAGGAATGCACAATTTATGGAGGGAGCTCAAACCCAAGCCTCAAACTCTGGATACAAGGTA
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Task1_train_15970
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A mutation in BEST1 (bestrophin 1), located on Chromosome 11, is being studied. Determine whether it’s pathogenic or benign, and specify the linked disease.
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Pathogenic; Autosomal recessive bestrophinopathy
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CACGCCTGTAATCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATCGCTTGAACCCGGGAGGTGGAGGTTGCAGTGAGCTGAGATCATGCCACTGCACTCCAGCCTGGGCGACACAGCAAGACTCTGTCTCAAACAAACAAACAAACAAACAAACAAAGGGGTTAACAGAGCCCCTAAGTCACATAAGTGTGCAAGTCAGAACAAGGCCTTGGTCTCCTGTCTCAGACTCCCAGCCCCTGGAGCATCCTGATTTCAGGGTTCCCACCTAGCCCTTTGCTACCACATCCTCCTCCTCCTCCCAGGTGGTGACTGTGGCGGTGTACAGCTTCTTCCTGACTTGTCTAGTTGGGCGGCAGTTTCTGAACCCAGCCAAGGCCTACCCTGGCCATGAGCTGGACCTCGTTGTGCCCGTCTTCACGTTCCTGCAGTTCTTCTTCTATGTTGGCTGGCTGAAGGTGGGCCTCTCCAGGGCCCTGCTGGGCTGGAGGCATGGCCAGAGGGGTCATGGCCAGCAGCTGCCTGAGACGAGGATGCAGTGTCAGGAAAGGAAGGTCTCACGGGTAGAAAGCAGCCAGGCGTGGTGGCGCACACCTGTAATCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATCGCTTGAACCCGGGAGGCGGAGGTTGTGGTGAGTTGAGATCGTGCCACTGCACTCCAGCCTGGGCAAAAGAATGAAACTCTATCTCAAAAACAACAACAACAACAAAACAAAGCCCTAAGGTTCAGAAGCCCCTGCCCTTTAGAAGGCAGATCGGCACCACCTCTCCTTATTCAAGATGCCTGTTGGGCTGTCTTGTTCCTCACCTCAAGTGGCTTGTCCAGGTATTCCCTCCCACCACAGCCAATACTCCGAACAGATGTTCTGAATCACACAGTTTTCTCTCCACCTCTTTATCTTTCCTTCCTTCTGTTGCCCACCCACTCTCTCTCCCTTCCTACCTTCCTTTATTTTTTGGTAATGGGGGTGTAAGTCTCTGTCTCTGCCCTTCCTGTCACTGTGACACACACACACACACACACACACACACACACATACACACACACACACACGCATTCCTATTCCTCTAAATTCCCCCTGCCCCCCCAGTTATCTTTGGTTTCTGCAGATCAAAACAAATCACACTTTTATGCTTGAAATTCTCCGGGGTGCCCCAGTGGCCTGCAAGATGTCCCCTGGACCCCTAAGGCAGACGCGTGTCACCTCTTCGGGGCTTTGTTAGGGCATTTTAGAGGTTGCTATCCAGGAATCTGCCCACCTAGACTGCCCTTTAGTTCAGCCCAGCTTCAGTATATATCTCTGTTGCATGAATGAATAAAATTATGCAACTCCAGGTAAGATACATGAGGTGAGATAAAGGCAGTGACTCAGCCGAGTGATACACTCAGGGACAGCTGTGGGTGTTCAGGGAAGGACTGGCTCAGAAGAGTTAGAGGGGCTGTGTCCAGAAGTGTGTGGGTGCCCACAAGTGTGGGGGGCTGGAGCCCTAAACTCTGCCTTTGAAGACAGTGGTCAGGCAGGAAGGGCGTCATGGGGTGTGGAAATAGCAGCAGCTGAGGTTTAAAGGGGGAAGCTGGCTTTGAGGAGTTCTGCCTGAGGGTTTACAGAGCCTCACCTGTCCCCAAGGTGGCAGAGCAGCTCATCAACCCCTTTGGAGAGGATGATGATGATTTTGAGACCAACTGGATTGTCGACAGGAATTTGCAGGTATGGGGAGAGGGAGAGAAACCATACCATGGACCTTCCCCAAAGTGGACCCAAAGAGAGGACCCCACTGTTCTGTAGGGAGGCCTCACAGTGAATGATCAACCCTTCCCCTCCTCCCTCCTGCAGCCAGTCATTCACTCACAGGATTCTCACCTCAATCTTTGAGGCTGCAGGCAGGCACCCATCTCCCCATTTCACAGGCAGGGAAACTGAGGTCCAGAGAGAGGGAGAGATTCCTCCAAGTCATCAGGCACATACAAGGTCCTGCCTGGGATGATCTTTCTGTGGGACTTCTTCTGTCCCTGGTGACCAGGTGTCCCTGTTGGCTGTGGATGAGATGCACCAGGACCTGCCTCGGATGGAGCCGGACATGTACTGGAATAAGCCCGAGCCACAGCCCCCCTACACAGCTGCTTCCGCCCAGTTCCGTCGAGCCTCCTTTATGGGCTCCACCTTCAACATCAGGTGTGGCCAGAGCCAGGGGGCTGGGTGGGAAGCCCCTCCTAGTGCAGGGGTCTGCCTAGGAACTTAGAATAGCACTAGTTAATGCATACAGGTTGCTTCAGTAAGTGTCAGGCACTGTACTATGCTCTTTATAAACATTAACTATTTTTTTCCTCCCAATAATTCTGGTTTGTTATCCCAAGTTTTCAGATAATTAAAGTACAGGTTCAGAGAGAGTAAGTTGTCCAAGGCCACATAGCTACCAAATGGTGCATTTGCTACTCGAAGGACAGCCTGTGATCAGTGATGCAGTGGAACGTTAGGACCTGGCTCTTGTCATCCAGAACTATGTTTTCTTTTCTTTTTGAGACAGTATCTCGCTCTGTCGCCCAGGTTGGAGCGCAGTGGCGTGATCTTGGCTCACTGCAACCTCCGCCTCCTGGGTTCAAGTGATTCTCCTGCTTCAGCCTCCCCAGTAGCTGGGATTACAGGTGCCCACAACCACAACTGGCTAATTTTTGTACTTTTAGTAGAGATGAGGTTTCACCATGTTGGCCAGGCTGGTCTCCAACTCCTGACCAGTAATCTGCCCGCTTTGGCCTCCCAAAATGCTGGAATTATAGGTGTCAAAACTATGTTTTCTGATAAGCTACGATGCTTGGATGGGAAGTGGAAGTGGGGTTCCCTGGGATGGGGGAGGGGCAGCAAAGTCCCAGCAGGCAGCCAGGCCATCACAGGTACCTCCTGAATTGACTTTGTCCTACCGAGTAAAGGGCTCAGGCCACCCACAGCAGCCAGACTTATCCCCACATGGTCCCACTTCCCTGATTCCATCTGAATCCCTCTTGAGCTGCAGTGGGCTGAAGGGCTATCCCAGCTGGTCCTTTCTCCCCAGGACAACAGAGTTGAAAGTGCCTTGGAGAGTGTTGGGCACATGTCAGGGTTCATACTCAAGGGTTTCTTCCACGGTATCCAGTGCTGTTCTCGCTTGTTCTTTTCTTTTTTTTTTTTTAAACGGAGTTTCACTCTTGTTGCCCAGAGCTGGAGTGCAGTGGCATAATCTCGGCTCACTGCAACCTCCGCCTCCCAGATTCAAGCAATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTATAGGTGCCAGCCACCAAGCCCGGCTAATTTTTGTATTTTTAGTAGAGACAGTTTCACCATGTTGGCCAGGCTGGTCTCGAACTCCTGACCTCAGGTGATCCACCCTCCTCAGCCTCCCAAAGTGCTGGGATTACATGTGTGAGCCACTGTGCCTGGCTGCTTGTTCTTTTAAGAACCAAATATCCTACTAGACTGCAATCGAGTTTAACTACAGTCTATAGATAGTGTGAGGAAGGGTTGGGAAGGTGATCAAATGAAGGCTGGAGGCTTGCTTAGGTCAGAAACATTTCTGGAGGATGACTTTGAGCCCTACATGGTCTGTACCCCAGCAGCTGAAGGTTGTTGAGGGGTGGGGAGGGCTGAAAACAGAACGATAAAGCATAGACCTTGTCTCCAAGGAATGCACAATTTATGGAGGGAGCTCAAACCCAAGCCTCAAACTCTGGATACAAGGTACAAAGTACTGGATGTCCAGAAAAGGGACAGAACATGGAACACAGTCATCTTTGTCTGCCTGGGAGGCGGCTTCCAGCTGGGTCTGGAGCTGAGCCATGGAACATGGGAAGAATCTGAACTTGGGCAAGGGCAGGCCATACTCTCTGGTAGATAAGCTTTCCCTTGCAGGGTAAAGGTCTGGGGCTCCCGGGATGCCTGTTGCTAGGAAGTCAAATTTCTCTTTGTGGATGTCACTCCCAGTTGGAACCACAAATTCCTGGCATTGCCCAGAGTCACTCATGGGCCTCATCTGAACCACTCATGCCAGGGCACCAGTGTTTCTGACT
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CACGCCTGTAATCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATCGCTTGAACCCGGGAGGTGGAGGTTGCAGTGAGCTGAGATCATGCCACTGCACTCCAGCCTGGGCGACACAGCAAGACTCTGTCTCAAACAAACAAACAAACAAACAAACAAAGGGGTTAACAGAGCCCCTAAGTCACATAAGTGTGCAAGTCAGAACAAGGCCTTGGTCTCCTGTCTCAGACTCCCAGCCCCTGGAGCATCCTGATTTCAGGGTTCCCACCTAGCCCTTTGCTACCACATCCTCCTCCTCCTCCCAGGTGGTGACTGTGGCGGTGTACAGCTTCTTCCTGACTTGTCTAGTTGGGCGGCAGTTTCTGAACCCAGCCAAGGCCTACCCTGGCCATGAGCTGGACCTCGTTGTGCCCGTCTTCACGTTCCTGCAGTTCTTCTTCTATGTTGGCTGGCTGAAGGTGGGCCTCTCCAGGGCCCTGCTGGGCTGGAGGCATGGCCAGAGGGGTCATGGCCAGCAGCTGCCTGAGACGAGGATGCAGTGTCAGGAAAGGAAGGTCTCACGGGTAGAAAGCAGCCAGGCGTGGTGGCGCACACCTGTAATCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATCGCTTGAACCCGGGAGGCGGAGGTTGTGGTGAGTTGAGATCGTGCCACTGCACTCCAGCCTGGGCAAAAGAATGAAACTCTATCTCAAAAACAACAACAACAACAAAACAAAGCCCTAAGGTTCAGAAGCCCCTGCCCTTTAGAAGGCAGATCGGCACCACCTCTCCTTATTCAAGATGCCTGTTGGGCTGTCTTGTTCCTCACCTCAAGTGGCTTGTCCAGGTATTCCCTCCCACCACAGCCAATACTCCGAACAGATGTTCTGAATCACACAGTTTTCTCTCCACCTCTTTATCTTTCCTTCCTTCTGTTGCCCACCCACTCTCTCTCCCTTCCTACCTTCCTTTATTTTTTGGTAATGGGGGTGTAAGTCTCTGTCTCTGCCCTTCCTGTCACTGTGACACACACACACACACACACACACACACACACATACACACACACACACACGCATTCCTATTCCTCTAAATTCCCCCTGCCCCCCCAGTTATCTTTGGTTTCTGCAGATCAAAACAAATCACACTTTTATGCTTGAAATTCTCCGGGGTGCCCCAGTGGCCTGCAAGATGTCCCCTGGACCCCTAAGGCAGACGCGTGTCACCTCTTCGGGGCTTTGTTAGGGCATTTTAGAGGTTGCTATCCAGGAATCTGCCCACCTAGACTGCCCTTTAGTTCAGCCCAGCTTCAGTATATATCTCTGTTGCATGAATGAATAAAATTATGCAACTCCAGGTAAGATACATGAGGTGAGATAAAGGCAGTGACTCAGCCGAGTGATACACTCAGGGACAGCTGTGGGTGTTCAGGGAAGGACTGGCTCAGAAGAGTTAGAGGGGCTGTGTCCAGAAGTGTGTGGGTGCCCACAAGTGTGGGGGGCTGGAGCCCTAAACTCTGCCTTTGAAGACAGTGGTCAGGCAGGAAGGGCGTCATGGGGTGTGGAAATAGCAGCAGCTGAGGTTTAAAGGGGGAAGCTGGCTTTGAGGAGTTCTGCCTGAGGGTTTACAGAGCCTCACCTGTCCCCAAGGTGGCAGAGCAGCTCATCAACCCCTTTGGAGAGGATGATGATGATTTTGAGACCAACTGGATTGTCGACAGGAATTTGCAGGTATGGGGAGAGGGAGAGAAACCATACCATGGACCTTCCCCAAAGTGGACCCAAAGAGAGGACCCCACTGTTCTGTAGGGAGGCCTCACAGTGAATGATCAACCCTTCCCCTCCTCCCTCCTGCAGCCAGTCATTCACTCACAGGATTCTCACCTCAATCTTTGAGGCTGCAGGCAGGCACCCATCTCCCCATTTCACAGGCAGGGAAACTGAGGTCCAGAGAGAGGGAGAGATTCCTCCAAGTCATCAGGCACATACAAGGTCCTGCCTGGGATGATCTTTCTGTGGGACTTCTTCTGTCCCTGGTGACCAGATGTCCCTGTTGGCTGTGGATGAGATGCACCAGGACCTGCCTCGGATGGAGCCGGACATGTACTGGAATAAGCCCGAGCCACAGCCCCCCTACACAGCTGCTTCCGCCCAGTTCCGTCGAGCCTCCTTTATGGGCTCCACCTTCAACATCAGGTGTGGCCAGAGCCAGGGGGCTGGGTGGGAAGCCCCTCCTAGTGCAGGGGTCTGCCTAGGAACTTAGAATAGCACTAGTTAATGCATACAGGTTGCTTCAGTAAGTGTCAGGCACTGTACTATGCTCTTTATAAACATTAACTATTTTTTTCCTCCCAATAATTCTGGTTTGTTATCCCAAGTTTTCAGATAATTAAAGTACAGGTTCAGAGAGAGTAAGTTGTCCAAGGCCACATAGCTACCAAATGGTGCATTTGCTACTCGAAGGACAGCCTGTGATCAGTGATGCAGTGGAACGTTAGGACCTGGCTCTTGTCATCCAGAACTATGTTTTCTTTTCTTTTTGAGACAGTATCTCGCTCTGTCGCCCAGGTTGGAGCGCAGTGGCGTGATCTTGGCTCACTGCAACCTCCGCCTCCTGGGTTCAAGTGATTCTCCTGCTTCAGCCTCCCCAGTAGCTGGGATTACAGGTGCCCACAACCACAACTGGCTAATTTTTGTACTTTTAGTAGAGATGAGGTTTCACCATGTTGGCCAGGCTGGTCTCCAACTCCTGACCAGTAATCTGCCCGCTTTGGCCTCCCAAAATGCTGGAATTATAGGTGTCAAAACTATGTTTTCTGATAAGCTACGATGCTTGGATGGGAAGTGGAAGTGGGGTTCCCTGGGATGGGGGAGGGGCAGCAAAGTCCCAGCAGGCAGCCAGGCCATCACAGGTACCTCCTGAATTGACTTTGTCCTACCGAGTAAAGGGCTCAGGCCACCCACAGCAGCCAGACTTATCCCCACATGGTCCCACTTCCCTGATTCCATCTGAATCCCTCTTGAGCTGCAGTGGGCTGAAGGGCTATCCCAGCTGGTCCTTTCTCCCCAGGACAACAGAGTTGAAAGTGCCTTGGAGAGTGTTGGGCACATGTCAGGGTTCATACTCAAGGGTTTCTTCCACGGTATCCAGTGCTGTTCTCGCTTGTTCTTTTCTTTTTTTTTTTTTAAACGGAGTTTCACTCTTGTTGCCCAGAGCTGGAGTGCAGTGGCATAATCTCGGCTCACTGCAACCTCCGCCTCCCAGATTCAAGCAATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTATAGGTGCCAGCCACCAAGCCCGGCTAATTTTTGTATTTTTAGTAGAGACAGTTTCACCATGTTGGCCAGGCTGGTCTCGAACTCCTGACCTCAGGTGATCCACCCTCCTCAGCCTCCCAAAGTGCTGGGATTACATGTGTGAGCCACTGTGCCTGGCTGCTTGTTCTTTTAAGAACCAAATATCCTACTAGACTGCAATCGAGTTTAACTACAGTCTATAGATAGTGTGAGGAAGGGTTGGGAAGGTGATCAAATGAAGGCTGGAGGCTTGCTTAGGTCAGAAACATTTCTGGAGGATGACTTTGAGCCCTACATGGTCTGTACCCCAGCAGCTGAAGGTTGTTGAGGGGTGGGGAGGGCTGAAAACAGAACGATAAAGCATAGACCTTGTCTCCAAGGAATGCACAATTTATGGAGGGAGCTCAAACCCAAGCCTCAAACTCTGGATACAAGGTACAAAGTACTGGATGTCCAGAAAAGGGACAGAACATGGAACACAGTCATCTTTGTCTGCCTGGGAGGCGGCTTCCAGCTGGGTCTGGAGCTGAGCCATGGAACATGGGAAGAATCTGAACTTGGGCAAGGGCAGGCCATACTCTCTGGTAGATAAGCTTTCCCTTGCAGGGTAAAGGTCTGGGGCTCCCGGGATGCCTGTTGCTAGGAAGTCAAATTTCTCTTTGTGGATGTCACTCCCAGTTGGAACCACAAATTCCTGGCATTGCCCAGAGTCACTCATGGGCCTCATCTGAACCACTCATGCCAGGGCACCAGTGTTTCTGACT
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Task1_train_15971
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A variant was discovered in gene BEST1 (bestrophin 1), Chromosome 11. Please indicate if this mutation results in a known disease or if it's non-harmful.
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Pathogenic; Retinal dystrophy
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GTAATCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATCGCTTGAACCCGGGAGGTGGAGGTTGCAGTGAGCTGAGATCATGCCACTGCACTCCAGCCTGGGCGACACAGCAAGACTCTGTCTCAAACAAACAAACAAACAAACAAACAAAGGGGTTAACAGAGCCCCTAAGTCACATAAGTGTGCAAGTCAGAACAAGGCCTTGGTCTCCTGTCTCAGACTCCCAGCCCCTGGAGCATCCTGATTTCAGGGTTCCCACCTAGCCCTTTGCTACCACATCCTCCTCCTCCTCCCAGGTGGTGACTGTGGCGGTGTACAGCTTCTTCCTGACTTGTCTAGTTGGGCGGCAGTTTCTGAACCCAGCCAAGGCCTACCCTGGCCATGAGCTGGACCTCGTTGTGCCCGTCTTCACGTTCCTGCAGTTCTTCTTCTATGTTGGCTGGCTGAAGGTGGGCCTCTCCAGGGCCCTGCTGGGCTGGAGGCATGGCCAGAGGGGTCATGGCCAGCAGCTGCCTGAGACGAGGATGCAGTGTCAGGAAAGGAAGGTCTCACGGGTAGAAAGCAGCCAGGCGTGGTGGCGCACACCTGTAATCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATCGCTTGAACCCGGGAGGCGGAGGTTGTGGTGAGTTGAGATCGTGCCACTGCACTCCAGCCTGGGCAAAAGAATGAAACTCTATCTCAAAAACAACAACAACAACAAAACAAAGCCCTAAGGTTCAGAAGCCCCTGCCCTTTAGAAGGCAGATCGGCACCACCTCTCCTTATTCAAGATGCCTGTTGGGCTGTCTTGTTCCTCACCTCAAGTGGCTTGTCCAGGTATTCCCTCCCACCACAGCCAATACTCCGAACAGATGTTCTGAATCACACAGTTTTCTCTCCACCTCTTTATCTTTCCTTCCTTCTGTTGCCCACCCACTCTCTCTCCCTTCCTACCTTCCTTTATTTTTTGGTAATGGGGGTGTAAGTCTCTGTCTCTGCCCTTCCTGTCACTGTGACACACACACACACACACACACACACACACACATACACACACACACACACGCATTCCTATTCCTCTAAATTCCCCCTGCCCCCCCAGTTATCTTTGGTTTCTGCAGATCAAAACAAATCACACTTTTATGCTTGAAATTCTCCGGGGTGCCCCAGTGGCCTGCAAGATGTCCCCTGGACCCCTAAGGCAGACGCGTGTCACCTCTTCGGGGCTTTGTTAGGGCATTTTAGAGGTTGCTATCCAGGAATCTGCCCACCTAGACTGCCCTTTAGTTCAGCCCAGCTTCAGTATATATCTCTGTTGCATGAATGAATAAAATTATGCAACTCCAGGTAAGATACATGAGGTGAGATAAAGGCAGTGACTCAGCCGAGTGATACACTCAGGGACAGCTGTGGGTGTTCAGGGAAGGACTGGCTCAGAAGAGTTAGAGGGGCTGTGTCCAGAAGTGTGTGGGTGCCCACAAGTGTGGGGGGCTGGAGCCCTAAACTCTGCCTTTGAAGACAGTGGTCAGGCAGGAAGGGCGTCATGGGGTGTGGAAATAGCAGCAGCTGAGGTTTAAAGGGGGAAGCTGGCTTTGAGGAGTTCTGCCTGAGGGTTTACAGAGCCTCACCTGTCCCCAAGGTGGCAGAGCAGCTCATCAACCCCTTTGGAGAGGATGATGATGATTTTGAGACCAACTGGATTGTCGACAGGAATTTGCAGGTATGGGGAGAGGGAGAGAAACCATACCATGGACCTTCCCCAAAGTGGACCCAAAGAGAGGACCCCACTGTTCTGTAGGGAGGCCTCACAGTGAATGATCAACCCTTCCCCTCCTCCCTCCTGCAGCCAGTCATTCACTCACAGGATTCTCACCTCAATCTTTGAGGCTGCAGGCAGGCACCCATCTCCCCATTTCACAGGCAGGGAAACTGAGGTCCAGAGAGAGGGAGAGATTCCTCCAAGTCATCAGGCACATACAAGGTCCTGCCTGGGATGATCTTTCTGTGGGACTTCTTCTGTCCCTGGTGACCAGGTGTCCCTGTTGGCTGTGGATGAGATGCACCAGGACCTGCCTCGGATGGAGCCGGACATGTACTGGAATAAGCCCGAGCCACAGCCCCCCTACACAGCTGCTTCCGCCCAGTTCCGTCGAGCCTCCTTTATGGGCTCCACCTTCAACATCAGGTGTGGCCAGAGCCAGGGGGCTGGGTGGGAAGCCCCTCCTAGTGCAGGGGTCTGCCTAGGAACTTAGAATAGCACTAGTTAATGCATACAGGTTGCTTCAGTAAGTGTCAGGCACTGTACTATGCTCTTTATAAACATTAACTATTTTTTTCCTCCCAATAATTCTGGTTTGTTATCCCAAGTTTTCAGATAATTAAAGTACAGGTTCAGAGAGAGTAAGTTGTCCAAGGCCACATAGCTACCAAATGGTGCATTTGCTACTCGAAGGACAGCCTGTGATCAGTGATGCAGTGGAACGTTAGGACCTGGCTCTTGTCATCCAGAACTATGTTTTCTTTTCTTTTTGAGACAGTATCTCGCTCTGTCGCCCAGGTTGGAGCGCAGTGGCGTGATCTTGGCTCACTGCAACCTCCGCCTCCTGGGTTCAAGTGATTCTCCTGCTTCAGCCTCCCCAGTAGCTGGGATTACAGGTGCCCACAACCACAACTGGCTAATTTTTGTACTTTTAGTAGAGATGAGGTTTCACCATGTTGGCCAGGCTGGTCTCCAACTCCTGACCAGTAATCTGCCCGCTTTGGCCTCCCAAAATGCTGGAATTATAGGTGTCAAAACTATGTTTTCTGATAAGCTACGATGCTTGGATGGGAAGTGGAAGTGGGGTTCCCTGGGATGGGGGAGGGGCAGCAAAGTCCCAGCAGGCAGCCAGGCCATCACAGGTACCTCCTGAATTGACTTTGTCCTACCGAGTAAAGGGCTCAGGCCACCCACAGCAGCCAGACTTATCCCCACATGGTCCCACTTCCCTGATTCCATCTGAATCCCTCTTGAGCTGCAGTGGGCTGAAGGGCTATCCCAGCTGGTCCTTTCTCCCCAGGACAACAGAGTTGAAAGTGCCTTGGAGAGTGTTGGGCACATGTCAGGGTTCATACTCAAGGGTTTCTTCCACGGTATCCAGTGCTGTTCTCGCTTGTTCTTTTCTTTTTTTTTTTTTAAACGGAGTTTCACTCTTGTTGCCCAGAGCTGGAGTGCAGTGGCATAATCTCGGCTCACTGCAACCTCCGCCTCCCAGATTCAAGCAATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTATAGGTGCCAGCCACCAAGCCCGGCTAATTTTTGTATTTTTAGTAGAGACAGTTTCACCATGTTGGCCAGGCTGGTCTCGAACTCCTGACCTCAGGTGATCCACCCTCCTCAGCCTCCCAAAGTGCTGGGATTACATGTGTGAGCCACTGTGCCTGGCTGCTTGTTCTTTTAAGAACCAAATATCCTACTAGACTGCAATCGAGTTTAACTACAGTCTATAGATAGTGTGAGGAAGGGTTGGGAAGGTGATCAAATGAAGGCTGGAGGCTTGCTTAGGTCAGAAACATTTCTGGAGGATGACTTTGAGCCCTACATGGTCTGTACCCCAGCAGCTGAAGGTTGTTGAGGGGTGGGGAGGGCTGAAAACAGAACGATAAAGCATAGACCTTGTCTCCAAGGAATGCACAATTTATGGAGGGAGCTCAAACCCAAGCCTCAAACTCTGGATACAAGGTACAAAGTACTGGATGTCCAGAAAAGGGACAGAACATGGAACACAGTCATCTTTGTCTGCCTGGGAGGCGGCTTCCAGCTGGGTCTGGAGCTGAGCCATGGAACATGGGAAGAATCTGAACTTGGGCAAGGGCAGGCCATACTCTCTGGTAGATAAGCTTTCCCTTGCAGGGTAAAGGTCTGGGGCTCCCGGGATGCCTGTTGCTAGGAAGTCAAATTTCTCTTTGTGGATGTCACTCCCAGTTGGAACCACAAATTCCTGGCATTGCCCAGAGTCACTCATGGGCCTCATCTGAACCACTCATGCCAGGGCACCAGTGTTTCTGACTGCCTGGA
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GTAATCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATCGCTTGAACCCGGGAGGTGGAGGTTGCAGTGAGCTGAGATCATGCCACTGCACTCCAGCCTGGGCGACACAGCAAGACTCTGTCTCAAACAAACAAACAAACAAACAAACAAAGGGGTTAACAGAGCCCCTAAGTCACATAAGTGTGCAAGTCAGAACAAGGCCTTGGTCTCCTGTCTCAGACTCCCAGCCCCTGGAGCATCCTGATTTCAGGGTTCCCACCTAGCCCTTTGCTACCACATCCTCCTCCTCCTCCCAGGTGGTGACTGTGGCGGTGTACAGCTTCTTCCTGACTTGTCTAGTTGGGCGGCAGTTTCTGAACCCAGCCAAGGCCTACCCTGGCCATGAGCTGGACCTCGTTGTGCCCGTCTTCACGTTCCTGCAGTTCTTCTTCTATGTTGGCTGGCTGAAGGTGGGCCTCTCCAGGGCCCTGCTGGGCTGGAGGCATGGCCAGAGGGGTCATGGCCAGCAGCTGCCTGAGACGAGGATGCAGTGTCAGGAAAGGAAGGTCTCACGGGTAGAAAGCAGCCAGGCGTGGTGGCGCACACCTGTAATCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATCGCTTGAACCCGGGAGGCGGAGGTTGTGGTGAGTTGAGATCGTGCCACTGCACTCCAGCCTGGGCAAAAGAATGAAACTCTATCTCAAAAACAACAACAACAACAAAACAAAGCCCTAAGGTTCAGAAGCCCCTGCCCTTTAGAAGGCAGATCGGCACCACCTCTCCTTATTCAAGATGCCTGTTGGGCTGTCTTGTTCCTCACCTCAAGTGGCTTGTCCAGGTATTCCCTCCCACCACAGCCAATACTCCGAACAGATGTTCTGAATCACACAGTTTTCTCTCCACCTCTTTATCTTTCCTTCCTTCTGTTGCCCACCCACTCTCTCTCCCTTCCTACCTTCCTTTATTTTTTGGTAATGGGGGTGTAAGTCTCTGTCTCTGCCCTTCCTGTCACTGTGACACACACACACACACACACACACACACACACATACACACACACACACACGCATTCCTATTCCTCTAAATTCCCCCTGCCCCCCCAGTTATCTTTGGTTTCTGCAGATCAAAACAAATCACACTTTTATGCTTGAAATTCTCCGGGGTGCCCCAGTGGCCTGCAAGATGTCCCCTGGACCCCTAAGGCAGACGCGTGTCACCTCTTCGGGGCTTTGTTAGGGCATTTTAGAGGTTGCTATCCAGGAATCTGCCCACCTAGACTGCCCTTTAGTTCAGCCCAGCTTCAGTATATATCTCTGTTGCATGAATGAATAAAATTATGCAACTCCAGGTAAGATACATGAGGTGAGATAAAGGCAGTGACTCAGCCGAGTGATACACTCAGGGACAGCTGTGGGTGTTCAGGGAAGGACTGGCTCAGAAGAGTTAGAGGGGCTGTGTCCAGAAGTGTGTGGGTGCCCACAAGTGTGGGGGGCTGGAGCCCTAAACTCTGCCTTTGAAGACAGTGGTCAGGCAGGAAGGGCGTCATGGGGTGTGGAAATAGCAGCAGCTGAGGTTTAAAGGGGGAAGCTGGCTTTGAGGAGTTCTGCCTGAGGGTTTACAGAGCCTCACCTGTCCCCAAGGTGGCAGAGCAGCTCATCAACCCCTTTGGAGAGGATGATGATGATTTTGAGACCAACTGGATTGTCGACAGGAATTTGCAGGTATGGGGAGAGGGAGAGAAACCATACCATGGACCTTCCCCAAAGTGGACCCAAAGAGAGGACCCCACTGTTCTGTAGGGAGGCCTCACAGTGAATGATCAACCCTTCCCCTCCTCCCTCCTGCAGCCAGTCATTCACTCACAGGATTCTCACCTCAATCTTTGAGGCTGCAGGCAGGCACCCATCTCCCCATTTCACAGGCAGGGAAACTGAGGTCCAGAGAGAGGGAGAGATTCCTCCAAGTCATCAGGCACATACAAGGTCCTGCCTGGGATGATCTTTCTGTGGGACTTCTTCTGTCCCTGGTGACCAGGTGTCCCCGTTGGCTGTGGATGAGATGCACCAGGACCTGCCTCGGATGGAGCCGGACATGTACTGGAATAAGCCCGAGCCACAGCCCCCCTACACAGCTGCTTCCGCCCAGTTCCGTCGAGCCTCCTTTATGGGCTCCACCTTCAACATCAGGTGTGGCCAGAGCCAGGGGGCTGGGTGGGAAGCCCCTCCTAGTGCAGGGGTCTGCCTAGGAACTTAGAATAGCACTAGTTAATGCATACAGGTTGCTTCAGTAAGTGTCAGGCACTGTACTATGCTCTTTATAAACATTAACTATTTTTTTCCTCCCAATAATTCTGGTTTGTTATCCCAAGTTTTCAGATAATTAAAGTACAGGTTCAGAGAGAGTAAGTTGTCCAAGGCCACATAGCTACCAAATGGTGCATTTGCTACTCGAAGGACAGCCTGTGATCAGTGATGCAGTGGAACGTTAGGACCTGGCTCTTGTCATCCAGAACTATGTTTTCTTTTCTTTTTGAGACAGTATCTCGCTCTGTCGCCCAGGTTGGAGCGCAGTGGCGTGATCTTGGCTCACTGCAACCTCCGCCTCCTGGGTTCAAGTGATTCTCCTGCTTCAGCCTCCCCAGTAGCTGGGATTACAGGTGCCCACAACCACAACTGGCTAATTTTTGTACTTTTAGTAGAGATGAGGTTTCACCATGTTGGCCAGGCTGGTCTCCAACTCCTGACCAGTAATCTGCCCGCTTTGGCCTCCCAAAATGCTGGAATTATAGGTGTCAAAACTATGTTTTCTGATAAGCTACGATGCTTGGATGGGAAGTGGAAGTGGGGTTCCCTGGGATGGGGGAGGGGCAGCAAAGTCCCAGCAGGCAGCCAGGCCATCACAGGTACCTCCTGAATTGACTTTGTCCTACCGAGTAAAGGGCTCAGGCCACCCACAGCAGCCAGACTTATCCCCACATGGTCCCACTTCCCTGATTCCATCTGAATCCCTCTTGAGCTGCAGTGGGCTGAAGGGCTATCCCAGCTGGTCCTTTCTCCCCAGGACAACAGAGTTGAAAGTGCCTTGGAGAGTGTTGGGCACATGTCAGGGTTCATACTCAAGGGTTTCTTCCACGGTATCCAGTGCTGTTCTCGCTTGTTCTTTTCTTTTTTTTTTTTTAAACGGAGTTTCACTCTTGTTGCCCAGAGCTGGAGTGCAGTGGCATAATCTCGGCTCACTGCAACCTCCGCCTCCCAGATTCAAGCAATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTATAGGTGCCAGCCACCAAGCCCGGCTAATTTTTGTATTTTTAGTAGAGACAGTTTCACCATGTTGGCCAGGCTGGTCTCGAACTCCTGACCTCAGGTGATCCACCCTCCTCAGCCTCCCAAAGTGCTGGGATTACATGTGTGAGCCACTGTGCCTGGCTGCTTGTTCTTTTAAGAACCAAATATCCTACTAGACTGCAATCGAGTTTAACTACAGTCTATAGATAGTGTGAGGAAGGGTTGGGAAGGTGATCAAATGAAGGCTGGAGGCTTGCTTAGGTCAGAAACATTTCTGGAGGATGACTTTGAGCCCTACATGGTCTGTACCCCAGCAGCTGAAGGTTGTTGAGGGGTGGGGAGGGCTGAAAACAGAACGATAAAGCATAGACCTTGTCTCCAAGGAATGCACAATTTATGGAGGGAGCTCAAACCCAAGCCTCAAACTCTGGATACAAGGTACAAAGTACTGGATGTCCAGAAAAGGGACAGAACATGGAACACAGTCATCTTTGTCTGCCTGGGAGGCGGCTTCCAGCTGGGTCTGGAGCTGAGCCATGGAACATGGGAAGAATCTGAACTTGGGCAAGGGCAGGCCATACTCTCTGGTAGATAAGCTTTCCCTTGCAGGGTAAAGGTCTGGGGCTCCCGGGATGCCTGTTGCTAGGAAGTCAAATTTCTCTTTGTGGATGTCACTCCCAGTTGGAACCACAAATTCCTGGCATTGCCCAGAGTCACTCATGGGCCTCATCTGAACCACTCATGCCAGGGCACCAGTGTTTCTGACTGCCTGGA
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Task1_train_15972
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Given this variant in gene BEST1 (bestrophin 1) on Chromosome 11, classify it as benign or pathogenic. Include the disorder it may cause if applicable.
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Pathogenic; Autosomal recessive bestrophinopathy
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TTCTCCTGCTTCAGCCTCCCCAGTAGCTGGGATTACAGGTGCCCACAACCACAACTGGCTAATTTTTGTACTTTTAGTAGAGATGAGGTTTCACCATGTTGGCCAGGCTGGTCTCCAACTCCTGACCAGTAATCTGCCCGCTTTGGCCTCCCAAAATGCTGGAATTATAGGTGTCAAAACTATGTTTTCTGATAAGCTACGATGCTTGGATGGGAAGTGGAAGTGGGGTTCCCTGGGATGGGGGAGGGGCAGCAAAGTCCCAGCAGGCAGCCAGGCCATCACAGGTACCTCCTGAATTGACTTTGTCCTACCGAGTAAAGGGCTCAGGCCACCCACAGCAGCCAGACTTATCCCCACATGGTCCCACTTCCCTGATTCCATCTGAATCCCTCTTGAGCTGCAGTGGGCTGAAGGGCTATCCCAGCTGGTCCTTTCTCCCCAGGACAACAGAGTTGAAAGTGCCTTGGAGAGTGTTGGGCACATGTCAGGGTTCATACTCAAGGGTTTCTTCCACGGTATCCAGTGCTGTTCTCGCTTGTTCTTTTCTTTTTTTTTTTTTAAACGGAGTTTCACTCTTGTTGCCCAGAGCTGGAGTGCAGTGGCATAATCTCGGCTCACTGCAACCTCCGCCTCCCAGATTCAAGCAATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTATAGGTGCCAGCCACCAAGCCCGGCTAATTTTTGTATTTTTAGTAGAGACAGTTTCACCATGTTGGCCAGGCTGGTCTCGAACTCCTGACCTCAGGTGATCCACCCTCCTCAGCCTCCCAAAGTGCTGGGATTACATGTGTGAGCCACTGTGCCTGGCTGCTTGTTCTTTTAAGAACCAAATATCCTACTAGACTGCAATCGAGTTTAACTACAGTCTATAGATAGTGTGAGGAAGGGTTGGGAAGGTGATCAAATGAAGGCTGGAGGCTTGCTTAGGTCAGAAACATTTCTGGAGGATGACTTTGAGCCCTACATGGTCTGTACCCCAGCAGCTGAAGGTTGTTGAGGGGTGGGGAGGGCTGAAAACAGAACGATAAAGCATAGACCTTGTCTCCAAGGAATGCACAATTTATGGAGGGAGCTCAAACCCAAGCCTCAAACTCTGGATACAAGGTACAAAGTACTGGATGTCCAGAAAAGGGACAGAACATGGAACACAGTCATCTTTGTCTGCCTGGGAGGCGGCTTCCAGCTGGGTCTGGAGCTGAGCCATGGAACATGGGAAGAATCTGAACTTGGGCAAGGGCAGGCCATACTCTCTGGTAGATAAGCTTTCCCTTGCAGGGTAAAGGTCTGGGGCTCCCGGGATGCCTGTTGCTAGGAAGTCAAATTTCTCTTTGTGGATGTCACTCCCAGTTGGAACCACAAATTCCTGGCATTGCCCAGAGTCACTCATGGGCCTCATCTGAACCACTCATGCCAGGGCACCAGTGTTTCTGACTGCCTGGAGTGAGGGGTTTTACAGGGGAAGTGAATGATGAGGAGGCCTTTACACGCCAGGCGGGGTGGTTGCGGGGGTTGGATGTTAACTCTGGTCAAGAGGGAATCAACAAACAGTGAGGTGAGCTGGGCCTGGAGGGATCACCGGGAGGTACAGGACAGATCAGGAGAGAGGTGAGAGCTGGGGCATGGTGAGGAAGACGGTGTGGCCTTGGCTTGGGCCAACTGAGAGAGAGGAGCGGGGGTAAGGGAGAAGTAAGGCCAGGTGTTGGTCCTTTGTCCACTGGCTCAGCCCTGCATCTCCTGTTTCTTTCCAGCCTGAACAAAGAGGAGATGGAGTTCCAGCCCAATCAGGAGGACGAGGAGGATGCTCACGCTGGCATCATTGGCCGCTTCCTAGGCCTGCAGTCCCATGATCACCATCCTCCCAGGGCAAACTCAAGGACCAAACTACTGTGGCCCAAGAGGGAATCCCTTCTCCACGAGGGCCTGCCCAAAAACCACAAGGCAGCCAAACAGAACGTTAGGGGCCAGGAAGACAACAAGGCCTGGAAGCTTAAGGCTGTGGACGCCTTCAAGTCTGCCCCACTGTATCAGAGGCCAGGCTACTACAGTGCCCCACAGACGCCCCTCAGCCCCACTCCCATGTTCTTCCCCCTAGAACCATCAGCGCCGTCAAAGCTTCACAGTGTCACAGGCATAGACACCAAAGACAAAAGCTTAAAGACTGTGAGTTCTGGGGCCAAGAAAAGTTTTGAATTGCTCTCAGAGAGCGATGGGGCCTTGATGGAGCACCCAGAAGTATCTCAAGTGAGGAGGAAAACTGTGGAGTTTAACCTGACGGATATGCCAGAGATCCCCGAAAATCACCTCAAAGAACCTTTGGAACAATCACCAACCAACATACACACTACACTCAAAGATCACATGGATCCTTATTGGGCCTTGGAAAACAGGTCTGTCCTCCACCTGAACCAGGGGCACTGCATTGCCCTGTGCCCCACCCCAGCTTCCCTTGCTCTGAGCCTACCCTTCCTCCACAATTTCCTAGGGTTCCATCACTGCCAGAGCACACTGGACCTACGCCCAGCACTGGCTTGGGGTATATACTTGGCCACCTTCACAGGGATCCTAGGGAAGTGTTCGGGACCTTTTCTCACTTCACCCTGGTATCACCCGGAAGACTTCTTGGGACCAGGTGAAGGAAGATGAGGTTGTGCTGACCAGAATGCTGCTGGAGAACTGCCCCAGGGCTGACAGGCCAGGCTTAGCTGAGCAGATGTTATCACTGGCCCCAACTTACTTTGAGCAAGGGTGGCTGACCCAAAACCATGAGGTGGCAGTCAGCTGGATGACAGATGAACACTTCCCCCATAACTATTTAGGGTAGTACCCAAGCACTACAGGAAAGGGTGGCAGGAACTGCCTCACTCCTAGGAACTGGTAGATGGTGAGGTTGAGGGTGTCCAGCGCCCTTAGGTCATTTTCTCACTGCCTGGGAACCTCACCAAAATACTTCTTGCTTCCTTGGGGTCAGCCCAAAGCTGTCACAAAATCAGATATTTCCCTTTATTCCAGATTTCCTGGACACTTTCACCCAATTATAAACACCCCACTTCAGCCCCAATCACGTGGGAGGAAGTGTAACTTCCCTTTTCTGGATTCTCAAGCAGTTACTTTCACGGTCAGAACACGCAGCTATTATGATTGAAAACTTAAAAGGGCAACAATTTCAGTCTTGCTTCTAGGGCTAGACAGGAACTTGGCAAACATCTGTGGCCTGTTCAGCAAAGGATGTTAATATTTAAGAATCTTGTCTTGGGCTGGGTGTGGAGGCAAGTGGATCACAGGAGGTCAGGAGTTTGAGACCAACCTGGCCAACATGATGAAACCCCATCTCTACCAAAAAAAATACAAATCAGCTGGGCGTCGTGGTGTGCCTGTAGTCCCAACGCAGGAGGTTGAGGGGAGAATTGCTTGAACCCAGGAGGTGGTGGTTGCAGTGAGATTGAGCAACTGCAATCCAGCCTGGGCGACGGAGTGAGACTGTCTCAAAAAAAAAAAAAAAAGGATCGTCTCAACCTTTGCCCTCCTACTGCAACATTTTGGTATTTGAAATGAAGGGACCTTCCATACTTATGCTGTTAATACTTTCATTCTCACTAGGGATGAAGCACATTCCTAACCTGCTTCCTAATGGGGATGCTTCGCCAGCCAGGTCCTCACCTGTGTGTACACCAGCAGGACACTGATCCAGTCACAGCCATACAGCTGTCCACACTGAAGAACATGTCCTACAACAGCCTGAATCAAATGGTTAGCTTAATAGATAAAAATCCCAGACTACTTCAGCCTTTAATGCCTTTTATTCATAAAAACTGTGAAAGCTAGACTGAACCATTGGAAACATTTAACTCAGACTCTGGATTCAGAGTCGGGAACCCTTAGTTCTATCTGAATCCAAGACAGCCACACCTTAGTATACTGCCCAAACTAATGAGTTTAATAAATACAAATACTCGTTTCTTTTTGATTAGTGTGATTAGAACTGAACAACGGCACTTAAGGAATCTGGAAGATAGCCTGGATAGATTTCTGATTCATCCCAAGACCTCAAAGACAACACCTGGGTAC
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TTCTCCTGCTTCAGCCTCCCCAGTAGCTGGGATTACAGGTGCCCACAACCACAACTGGCTAATTTTTGTACTTTTAGTAGAGATGAGGTTTCACCATGTTGGCCAGGCTGGTCTCCAACTCCTGACCAGTAATCTGCCCGCTTTGGCCTCCCAAAATGCTGGAATTATAGGTGTCAAAACTATGTTTTCTGATAAGCTACGATGCTTGGATGGGAAGTGGAAGTGGGGTTCCCTGGGATGGGGGAGGGGCAGCAAAGTCCCAGCAGGCAGCCAGGCCATCACAGGTACCTCCTGAATTGACTTTGTCCTACCGAGTAAAGGGCTCAGGCCACCCACAGCAGCCAGACTTATCCCCACATGGTCCCACTTCCCTGATTCCATCTGAATCCCTCTTGAGCTGCAGTGGGCTGAAGGGCTATCCCAGCTGGTCCTTTCTCCCCAGGACAACAGAGTTGAAAGTGCCTTGGAGAGTGTTGGGCACATGTCAGGGTTCATACTCAAGGGTTTCTTCCACGGTATCCAGTGCTGTTCTCGCTTGTTCTTTTCTTTTTTTTTTTTTAAACGGAGTTTCACTCTTGTTGCCCAGAGCTGGAGTGCAGTGGCATAATCTCGGCTCACTGCAACCTCCGCCTCCCAGATTCAAGCAATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTATAGGTGCCAGCCACCAAGCCCGGCTAATTTTTGTATTTTTAGTAGAGACAGTTTCACCATGTTGGCCAGGCTGGTCTCGAACTCCTGACCTCAGGTGATCCACCCTCCTCAGCCTCCCAAAGTGCTGGGATTACATGTGTGAGCCACTGTGCCTGGCTGCTTGTTCTTTTAAGAACCAAATATCCTACTAGACTGCAATCGAGTTTAACTACAGTCTATAGATAGTGTGAGGAAGGGTTGGGAAGGTGATCAAATGAAGGCTGGAGGCTTGCTTAGGTCAGAAACATTTCTGGAGGATGACTTTGAGCCCTACATGGTCTGTACCCCAGCAGCTGAAGGTTGTTGAGGGGTGGGGAGGGCTGAAAACAGAACGATAAAGCATAGACCTTGTCTCCAAGGAATGCACAATTTATGGAGGGAGCTCAAACCCAAGCCTCAAACTCTGGATACAAGGTACAAAGTACTGGATGTCCAGAAAAGGGACAGAACATGGAACACAGTCATCTTTGTCTGCCTGGGAGGCGGCTTCCAGCTGGGTCTGGAGCTGAGCCATGGAACATGGGAAGAATCTGAACTTGGGCAAGGGCAGGCCATACTCTCTGGTAGATAAGCTTTCCCTTGCAGGGTAAAGGTCTGGGGCTCCCGGGATGCCTGTTGCTAGGAAGTCAAATTTCTCTTTGTGGATGTCACTCCCAGTTGGAACCACAAATTCCTGGCATTGCCCAGAGTCACTCATGGGCCTCATCTGAACCACTCATGCCAGGGCACCAGTGTTTCTGACTGCCTGGAGTGAGGGGTTTTACAGGGGAAGTGAATGATGAGGAGGCCTTTACACGCCAGGCGGGGTGGTTGCGGGGGTTGGATGTTAACTCTGGTCAAGAGGGAATCAACAAACAGTGAGGTGAGCTGGGCCTGGAGGGATCACCGGGAGGTACAGGACAGATCAGGAGAGAGGTGAGAGCTGGGGCATGGTGAGGAAGACGGTGTGGCCTTGGCTTGGGCCAACTGAGAGAGAGGAGCGGGGGTAAGGGAGAAGTAAGGCCAGGTGTTGGTCCTTTGTCCACTGGCTCAGCCCTGCATCTCCTGTTTCTTTCCAGCCTGAACAAAGAGGAGATGGAGTTCCAGCCCAATCAGGAGGACGAGGAGGATGCTCACGCTGGCATCATTGGCCGCTTCCTAGGCCTGCAGTCCCATGATCACCATCCTCCCAGGGCAAACTCAAGGACCAAACTACTGTGGCCCAAGAGGGAATCCCTTCTCCACGAGGGCCTGCCCAAAAACCACAAGGCAGCCAAACAGAACGTTAGGGGCCAGGAAGACAACAAGGCCTGGAAGCTTAAGGCTGTGGACGCCTTCAAGTCTGCCCGACTGTATCAGAGGCCAGGCTACTACAGTGCCCCACAGACGCCCCTCAGCCCCACTCCCATGTTCTTCCCCCTAGAACCATCAGCGCCGTCAAAGCTTCACAGTGTCACAGGCATAGACACCAAAGACAAAAGCTTAAAGACTGTGAGTTCTGGGGCCAAGAAAAGTTTTGAATTGCTCTCAGAGAGCGATGGGGCCTTGATGGAGCACCCAGAAGTATCTCAAGTGAGGAGGAAAACTGTGGAGTTTAACCTGACGGATATGCCAGAGATCCCCGAAAATCACCTCAAAGAACCTTTGGAACAATCACCAACCAACATACACACTACACTCAAAGATCACATGGATCCTTATTGGGCCTTGGAAAACAGGTCTGTCCTCCACCTGAACCAGGGGCACTGCATTGCCCTGTGCCCCACCCCAGCTTCCCTTGCTCTGAGCCTACCCTTCCTCCACAATTTCCTAGGGTTCCATCACTGCCAGAGCACACTGGACCTACGCCCAGCACTGGCTTGGGGTATATACTTGGCCACCTTCACAGGGATCCTAGGGAAGTGTTCGGGACCTTTTCTCACTTCACCCTGGTATCACCCGGAAGACTTCTTGGGACCAGGTGAAGGAAGATGAGGTTGTGCTGACCAGAATGCTGCTGGAGAACTGCCCCAGGGCTGACAGGCCAGGCTTAGCTGAGCAGATGTTATCACTGGCCCCAACTTACTTTGAGCAAGGGTGGCTGACCCAAAACCATGAGGTGGCAGTCAGCTGGATGACAGATGAACACTTCCCCCATAACTATTTAGGGTAGTACCCAAGCACTACAGGAAAGGGTGGCAGGAACTGCCTCACTCCTAGGAACTGGTAGATGGTGAGGTTGAGGGTGTCCAGCGCCCTTAGGTCATTTTCTCACTGCCTGGGAACCTCACCAAAATACTTCTTGCTTCCTTGGGGTCAGCCCAAAGCTGTCACAAAATCAGATATTTCCCTTTATTCCAGATTTCCTGGACACTTTCACCCAATTATAAACACCCCACTTCAGCCCCAATCACGTGGGAGGAAGTGTAACTTCCCTTTTCTGGATTCTCAAGCAGTTACTTTCACGGTCAGAACACGCAGCTATTATGATTGAAAACTTAAAAGGGCAACAATTTCAGTCTTGCTTCTAGGGCTAGACAGGAACTTGGCAAACATCTGTGGCCTGTTCAGCAAAGGATGTTAATATTTAAGAATCTTGTCTTGGGCTGGGTGTGGAGGCAAGTGGATCACAGGAGGTCAGGAGTTTGAGACCAACCTGGCCAACATGATGAAACCCCATCTCTACCAAAAAAAATACAAATCAGCTGGGCGTCGTGGTGTGCCTGTAGTCCCAACGCAGGAGGTTGAGGGGAGAATTGCTTGAACCCAGGAGGTGGTGGTTGCAGTGAGATTGAGCAACTGCAATCCAGCCTGGGCGACGGAGTGAGACTGTCTCAAAAAAAAAAAAAAAAGGATCGTCTCAACCTTTGCCCTCCTACTGCAACATTTTGGTATTTGAAATGAAGGGACCTTCCATACTTATGCTGTTAATACTTTCATTCTCACTAGGGATGAAGCACATTCCTAACCTGCTTCCTAATGGGGATGCTTCGCCAGCCAGGTCCTCACCTGTGTGTACACCAGCAGGACACTGATCCAGTCACAGCCATACAGCTGTCCACACTGAAGAACATGTCCTACAACAGCCTGAATCAAATGGTTAGCTTAATAGATAAAAATCCCAGACTACTTCAGCCTTTAATGCCTTTTATTCATAAAAACTGTGAAAGCTAGACTGAACCATTGGAAACATTTAACTCAGACTCTGGATTCAGAGTCGGGAACCCTTAGTTCTATCTGAATCCAAGACAGCCACACCTTAGTATACTGCCCAAACTAATGAGTTTAATAAATACAAATACTCGTTTCTTTTTGATTAGTGTGATTAGAACTGAACAACGGCACTTAAGGAATCTGGAAGATAGCCTGGATAGATTTCTGATTCATCCCAAGACCTCAAAGACAACACCTGGGTAC
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Task1_train_15973
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This variant affects gene BEST1 (bestrophin 1) located on Chromosome 11. Evaluate its biological effect and specify any disease association.
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Pathogenic; Retinal dystrophy
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TACAGGTGCCCACAACCACAACTGGCTAATTTTTGTACTTTTAGTAGAGATGAGGTTTCACCATGTTGGCCAGGCTGGTCTCCAACTCCTGACCAGTAATCTGCCCGCTTTGGCCTCCCAAAATGCTGGAATTATAGGTGTCAAAACTATGTTTTCTGATAAGCTACGATGCTTGGATGGGAAGTGGAAGTGGGGTTCCCTGGGATGGGGGAGGGGCAGCAAAGTCCCAGCAGGCAGCCAGGCCATCACAGGTACCTCCTGAATTGACTTTGTCCTACCGAGTAAAGGGCTCAGGCCACCCACAGCAGCCAGACTTATCCCCACATGGTCCCACTTCCCTGATTCCATCTGAATCCCTCTTGAGCTGCAGTGGGCTGAAGGGCTATCCCAGCTGGTCCTTTCTCCCCAGGACAACAGAGTTGAAAGTGCCTTGGAGAGTGTTGGGCACATGTCAGGGTTCATACTCAAGGGTTTCTTCCACGGTATCCAGTGCTGTTCTCGCTTGTTCTTTTCTTTTTTTTTTTTTAAACGGAGTTTCACTCTTGTTGCCCAGAGCTGGAGTGCAGTGGCATAATCTCGGCTCACTGCAACCTCCGCCTCCCAGATTCAAGCAATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTATAGGTGCCAGCCACCAAGCCCGGCTAATTTTTGTATTTTTAGTAGAGACAGTTTCACCATGTTGGCCAGGCTGGTCTCGAACTCCTGACCTCAGGTGATCCACCCTCCTCAGCCTCCCAAAGTGCTGGGATTACATGTGTGAGCCACTGTGCCTGGCTGCTTGTTCTTTTAAGAACCAAATATCCTACTAGACTGCAATCGAGTTTAACTACAGTCTATAGATAGTGTGAGGAAGGGTTGGGAAGGTGATCAAATGAAGGCTGGAGGCTTGCTTAGGTCAGAAACATTTCTGGAGGATGACTTTGAGCCCTACATGGTCTGTACCCCAGCAGCTGAAGGTTGTTGAGGGGTGGGGAGGGCTGAAAACAGAACGATAAAGCATAGACCTTGTCTCCAAGGAATGCACAATTTATGGAGGGAGCTCAAACCCAAGCCTCAAACTCTGGATACAAGGTACAAAGTACTGGATGTCCAGAAAAGGGACAGAACATGGAACACAGTCATCTTTGTCTGCCTGGGAGGCGGCTTCCAGCTGGGTCTGGAGCTGAGCCATGGAACATGGGAAGAATCTGAACTTGGGCAAGGGCAGGCCATACTCTCTGGTAGATAAGCTTTCCCTTGCAGGGTAAAGGTCTGGGGCTCCCGGGATGCCTGTTGCTAGGAAGTCAAATTTCTCTTTGTGGATGTCACTCCCAGTTGGAACCACAAATTCCTGGCATTGCCCAGAGTCACTCATGGGCCTCATCTGAACCACTCATGCCAGGGCACCAGTGTTTCTGACTGCCTGGAGTGAGGGGTTTTACAGGGGAAGTGAATGATGAGGAGGCCTTTACACGCCAGGCGGGGTGGTTGCGGGGGTTGGATGTTAACTCTGGTCAAGAGGGAATCAACAAACAGTGAGGTGAGCTGGGCCTGGAGGGATCACCGGGAGGTACAGGACAGATCAGGAGAGAGGTGAGAGCTGGGGCATGGTGAGGAAGACGGTGTGGCCTTGGCTTGGGCCAACTGAGAGAGAGGAGCGGGGGTAAGGGAGAAGTAAGGCCAGGTGTTGGTCCTTTGTCCACTGGCTCAGCCCTGCATCTCCTGTTTCTTTCCAGCCTGAACAAAGAGGAGATGGAGTTCCAGCCCAATCAGGAGGACGAGGAGGATGCTCACGCTGGCATCATTGGCCGCTTCCTAGGCCTGCAGTCCCATGATCACCATCCTCCCAGGGCAAACTCAAGGACCAAACTACTGTGGCCCAAGAGGGAATCCCTTCTCCACGAGGGCCTGCCCAAAAACCACAAGGCAGCCAAACAGAACGTTAGGGGCCAGGAAGACAACAAGGCCTGGAAGCTTAAGGCTGTGGACGCCTTCAAGTCTGCCCCACTGTATCAGAGGCCAGGCTACTACAGTGCCCCACAGACGCCCCTCAGCCCCACTCCCATGTTCTTCCCCCTAGAACCATCAGCGCCGTCAAAGCTTCACAGTGTCACAGGCATAGACACCAAAGACAAAAGCTTAAAGACTGTGAGTTCTGGGGCCAAGAAAAGTTTTGAATTGCTCTCAGAGAGCGATGGGGCCTTGATGGAGCACCCAGAAGTATCTCAAGTGAGGAGGAAAACTGTGGAGTTTAACCTGACGGATATGCCAGAGATCCCCGAAAATCACCTCAAAGAACCTTTGGAACAATCACCAACCAACATACACACTACACTCAAAGATCACATGGATCCTTATTGGGCCTTGGAAAACAGGTCTGTCCTCCACCTGAACCAGGGGCACTGCATTGCCCTGTGCCCCACCCCAGCTTCCCTTGCTCTGAGCCTACCCTTCCTCCACAATTTCCTAGGGTTCCATCACTGCCAGAGCACACTGGACCTACGCCCAGCACTGGCTTGGGGTATATACTTGGCCACCTTCACAGGGATCCTAGGGAAGTGTTCGGGACCTTTTCTCACTTCACCCTGGTATCACCCGGAAGACTTCTTGGGACCAGGTGAAGGAAGATGAGGTTGTGCTGACCAGAATGCTGCTGGAGAACTGCCCCAGGGCTGACAGGCCAGGCTTAGCTGAGCAGATGTTATCACTGGCCCCAACTTACTTTGAGCAAGGGTGGCTGACCCAAAACCATGAGGTGGCAGTCAGCTGGATGACAGATGAACACTTCCCCCATAACTATTTAGGGTAGTACCCAAGCACTACAGGAAAGGGTGGCAGGAACTGCCTCACTCCTAGGAACTGGTAGATGGTGAGGTTGAGGGTGTCCAGCGCCCTTAGGTCATTTTCTCACTGCCTGGGAACCTCACCAAAATACTTCTTGCTTCCTTGGGGTCAGCCCAAAGCTGTCACAAAATCAGATATTTCCCTTTATTCCAGATTTCCTGGACACTTTCACCCAATTATAAACACCCCACTTCAGCCCCAATCACGTGGGAGGAAGTGTAACTTCCCTTTTCTGGATTCTCAAGCAGTTACTTTCACGGTCAGAACACGCAGCTATTATGATTGAAAACTTAAAAGGGCAACAATTTCAGTCTTGCTTCTAGGGCTAGACAGGAACTTGGCAAACATCTGTGGCCTGTTCAGCAAAGGATGTTAATATTTAAGAATCTTGTCTTGGGCTGGGTGTGGAGGCAAGTGGATCACAGGAGGTCAGGAGTTTGAGACCAACCTGGCCAACATGATGAAACCCCATCTCTACCAAAAAAAATACAAATCAGCTGGGCGTCGTGGTGTGCCTGTAGTCCCAACGCAGGAGGTTGAGGGGAGAATTGCTTGAACCCAGGAGGTGGTGGTTGCAGTGAGATTGAGCAACTGCAATCCAGCCTGGGCGACGGAGTGAGACTGTCTCAAAAAAAAAAAAAAAAGGATCGTCTCAACCTTTGCCCTCCTACTGCAACATTTTGGTATTTGAAATGAAGGGACCTTCCATACTTATGCTGTTAATACTTTCATTCTCACTAGGGATGAAGCACATTCCTAACCTGCTTCCTAATGGGGATGCTTCGCCAGCCAGGTCCTCACCTGTGTGTACACCAGCAGGACACTGATCCAGTCACAGCCATACAGCTGTCCACACTGAAGAACATGTCCTACAACAGCCTGAATCAAATGGTTAGCTTAATAGATAAAAATCCCAGACTACTTCAGCCTTTAATGCCTTTTATTCATAAAAACTGTGAAAGCTAGACTGAACCATTGGAAACATTTAACTCAGACTCTGGATTCAGAGTCGGGAACCCTTAGTTCTATCTGAATCCAAGACAGCCACACCTTAGTATACTGCCCAAACTAATGAGTTTAATAAATACAAATACTCGTTTCTTTTTGATTAGTGTGATTAGAACTGAACAACGGCACTTAAGGAATCTGGAAGATAGCCTGGATAGATTTCTGATTCATCCCAAGACCTCAAAGACAACACCTGGGTACCAAATTTCTTTATTTGAAGGAATGGTACAAATC
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TACAGGTGCCCACAACCACAACTGGCTAATTTTTGTACTTTTAGTAGAGATGAGGTTTCACCATGTTGGCCAGGCTGGTCTCCAACTCCTGACCAGTAATCTGCCCGCTTTGGCCTCCCAAAATGCTGGAATTATAGGTGTCAAAACTATGTTTTCTGATAAGCTACGATGCTTGGATGGGAAGTGGAAGTGGGGTTCCCTGGGATGGGGGAGGGGCAGCAAAGTCCCAGCAGGCAGCCAGGCCATCACAGGTACCTCCTGAATTGACTTTGTCCTACCGAGTAAAGGGCTCAGGCCACCCACAGCAGCCAGACTTATCCCCACATGGTCCCACTTCCCTGATTCCATCTGAATCCCTCTTGAGCTGCAGTGGGCTGAAGGGCTATCCCAGCTGGTCCTTTCTCCCCAGGACAACAGAGTTGAAAGTGCCTTGGAGAGTGTTGGGCACATGTCAGGGTTCATACTCAAGGGTTTCTTCCACGGTATCCAGTGCTGTTCTCGCTTGTTCTTTTCTTTTTTTTTTTTTAAACGGAGTTTCACTCTTGTTGCCCAGAGCTGGAGTGCAGTGGCATAATCTCGGCTCACTGCAACCTCCGCCTCCCAGATTCAAGCAATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTATAGGTGCCAGCCACCAAGCCCGGCTAATTTTTGTATTTTTAGTAGAGACAGTTTCACCATGTTGGCCAGGCTGGTCTCGAACTCCTGACCTCAGGTGATCCACCCTCCTCAGCCTCCCAAAGTGCTGGGATTACATGTGTGAGCCACTGTGCCTGGCTGCTTGTTCTTTTAAGAACCAAATATCCTACTAGACTGCAATCGAGTTTAACTACAGTCTATAGATAGTGTGAGGAAGGGTTGGGAAGGTGATCAAATGAAGGCTGGAGGCTTGCTTAGGTCAGAAACATTTCTGGAGGATGACTTTGAGCCCTACATGGTCTGTACCCCAGCAGCTGAAGGTTGTTGAGGGGTGGGGAGGGCTGAAAACAGAACGATAAAGCATAGACCTTGTCTCCAAGGAATGCACAATTTATGGAGGGAGCTCAAACCCAAGCCTCAAACTCTGGATACAAGGTACAAAGTACTGGATGTCCAGAAAAGGGACAGAACATGGAACACAGTCATCTTTGTCTGCCTGGGAGGCGGCTTCCAGCTGGGTCTGGAGCTGAGCCATGGAACATGGGAAGAATCTGAACTTGGGCAAGGGCAGGCCATACTCTCTGGTAGATAAGCTTTCCCTTGCAGGGTAAAGGTCTGGGGCTCCCGGGATGCCTGTTGCTAGGAAGTCAAATTTCTCTTTGTGGATGTCACTCCCAGTTGGAACCACAAATTCCTGGCATTGCCCAGAGTCACTCATGGGCCTCATCTGAACCACTCATGCCAGGGCACCAGTGTTTCTGACTGCCTGGAGTGAGGGGTTTTACAGGGGAAGTGAATGATGAGGAGGCCTTTACACGCCAGGCGGGGTGGTTGCGGGGGTTGGATGTTAACTCTGGTCAAGAGGGAATCAACAAACAGTGAGGTGAGCTGGGCCTGGAGGGATCACCGGGAGGTACAGGACAGATCAGGAGAGAGGTGAGAGCTGGGGCATGGTGAGGAAGACGGTGTGGCCTTGGCTTGGGCCAACTGAGAGAGAGGAGCGGGGGTAAGGGAGAAGTAAGGCCAGGTGTTGGTCCTTTGTCCACTGGCTCAGCCCTGCATCTCCTGTTTCTTTCCAGCCTGAACAAAGAGGAGATGGAGTTCCAGCCCAATCAGGAGGACGAGGAGGATGCTCACGCTGGCATCATTGGCCGCTTCCTAGGCCTGCAGTCCCATGATCACCATCCTCCCAGGGCAAACTCAAGGACCAAACTACTGTGGCCCAAGAGGGAATCCCTTCTCCACGAGGGCCTGCCCAAAAACCACAAGGCAGCCAAACAGAACGTTAGGGGCCAGGAAGACAACAAGGCCTGGAAGCTTAAGGCTGTGGACGCCTTCAAGTCTGCCCCACTGTATCAGAGGCCAGGCTACTACAGTGCCCTACAGACGCCCCTCAGCCCCACTCCCATGTTCTTCCCCCTAGAACCATCAGCGCCGTCAAAGCTTCACAGTGTCACAGGCATAGACACCAAAGACAAAAGCTTAAAGACTGTGAGTTCTGGGGCCAAGAAAAGTTTTGAATTGCTCTCAGAGAGCGATGGGGCCTTGATGGAGCACCCAGAAGTATCTCAAGTGAGGAGGAAAACTGTGGAGTTTAACCTGACGGATATGCCAGAGATCCCCGAAAATCACCTCAAAGAACCTTTGGAACAATCACCAACCAACATACACACTACACTCAAAGATCACATGGATCCTTATTGGGCCTTGGAAAACAGGTCTGTCCTCCACCTGAACCAGGGGCACTGCATTGCCCTGTGCCCCACCCCAGCTTCCCTTGCTCTGAGCCTACCCTTCCTCCACAATTTCCTAGGGTTCCATCACTGCCAGAGCACACTGGACCTACGCCCAGCACTGGCTTGGGGTATATACTTGGCCACCTTCACAGGGATCCTAGGGAAGTGTTCGGGACCTTTTCTCACTTCACCCTGGTATCACCCGGAAGACTTCTTGGGACCAGGTGAAGGAAGATGAGGTTGTGCTGACCAGAATGCTGCTGGAGAACTGCCCCAGGGCTGACAGGCCAGGCTTAGCTGAGCAGATGTTATCACTGGCCCCAACTTACTTTGAGCAAGGGTGGCTGACCCAAAACCATGAGGTGGCAGTCAGCTGGATGACAGATGAACACTTCCCCCATAACTATTTAGGGTAGTACCCAAGCACTACAGGAAAGGGTGGCAGGAACTGCCTCACTCCTAGGAACTGGTAGATGGTGAGGTTGAGGGTGTCCAGCGCCCTTAGGTCATTTTCTCACTGCCTGGGAACCTCACCAAAATACTTCTTGCTTCCTTGGGGTCAGCCCAAAGCTGTCACAAAATCAGATATTTCCCTTTATTCCAGATTTCCTGGACACTTTCACCCAATTATAAACACCCCACTTCAGCCCCAATCACGTGGGAGGAAGTGTAACTTCCCTTTTCTGGATTCTCAAGCAGTTACTTTCACGGTCAGAACACGCAGCTATTATGATTGAAAACTTAAAAGGGCAACAATTTCAGTCTTGCTTCTAGGGCTAGACAGGAACTTGGCAAACATCTGTGGCCTGTTCAGCAAAGGATGTTAATATTTAAGAATCTTGTCTTGGGCTGGGTGTGGAGGCAAGTGGATCACAGGAGGTCAGGAGTTTGAGACCAACCTGGCCAACATGATGAAACCCCATCTCTACCAAAAAAAATACAAATCAGCTGGGCGTCGTGGTGTGCCTGTAGTCCCAACGCAGGAGGTTGAGGGGAGAATTGCTTGAACCCAGGAGGTGGTGGTTGCAGTGAGATTGAGCAACTGCAATCCAGCCTGGGCGACGGAGTGAGACTGTCTCAAAAAAAAAAAAAAAAGGATCGTCTCAACCTTTGCCCTCCTACTGCAACATTTTGGTATTTGAAATGAAGGGACCTTCCATACTTATGCTGTTAATACTTTCATTCTCACTAGGGATGAAGCACATTCCTAACCTGCTTCCTAATGGGGATGCTTCGCCAGCCAGGTCCTCACCTGTGTGTACACCAGCAGGACACTGATCCAGTCACAGCCATACAGCTGTCCACACTGAAGAACATGTCCTACAACAGCCTGAATCAAATGGTTAGCTTAATAGATAAAAATCCCAGACTACTTCAGCCTTTAATGCCTTTTATTCATAAAAACTGTGAAAGCTAGACTGAACCATTGGAAACATTTAACTCAGACTCTGGATTCAGAGTCGGGAACCCTTAGTTCTATCTGAATCCAAGACAGCCACACCTTAGTATACTGCCCAAACTAATGAGTTTAATAAATACAAATACTCGTTTCTTTTTGATTAGTGTGATTAGAACTGAACAACGGCACTTAAGGAATCTGGAAGATAGCCTGGATAGATTTCTGATTCATCCCAAGACCTCAAAGACAACACCTGGGTACCAAATTTCTTTATTTGAAGGAATGGTACAAATC
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Task1_train_15974
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Consider a variant on Chromosome 11 in gene B3GAT3 (beta-1,3-glucuronyltransferase 3). Determine its clinical classification and disease relevance.
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Pathogenic; Larsen-like syndrome, B3GAT3 type
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ATGCTGGCTGTCACCTTCCTACTGCAGGTGAGTCAGCAAAGCATCTGACACCTCCTCCCACCCGGGACTCCTCCCTGCCTCCAACCCTGGGCCTCTTGGAACCGCTGACTCTCCCTGACTCTTTCCCCTTGCTTCCCCCACAGGCTCTGGTGCTCCTTGGCCTGCGGTACCTGCAAACAGCACTGGAGGGGCTTGGAGGGGTCATTGATGCGGGAGGAGAGACCCAGGGCTATCTCTTTCCCAGTGGGCTGAAAGATATGCTGAAAACAGCATGGCTACAGGGAGGGGTTGCCTGCAGGCCAGCACCTGAGGAGGCCCCACCAGGAGAAGCACCTCCCAAGGAGGATCTATCTGAGGCCTAGAGGCCTGGAGCTTGGGGTGAGGAAGAGGGAGGGATGGACAAGTCTGAAAACCTCACAACTCCTTACCAAGGCTCCAGGTTGGGGGGATCGTAGGATTAGAGGGGCTAAGGATAGTCAGCGAGCTGGACTGGGGTAAGAAAGAAAACCAGATGTCCTAGGGCCTAGCCCTTGTAGTCAGAACCACCAGGGAACAGCAAAGAACAGAGTGATGGGAAAGTGACATGAGAAGGCCTGGAGGCTGATTCTGATATAGACTCAATAAAGTTTTTGGATGGAAGCAATTGCTTTTTCTTGTCAAGGGGATGGGGGCCTGGGAGAACTGATTTCTGTCTGATGGAGCAGCTAGGACTCCAAAGTTTGGACCCTGGCTCGACCTGTGCAGCAACAGGAGCCCACATCTGTAAGGATCAGAAAGCAAGAACCCAATGTAAGAAGCAAAGGAAAACAAGAGGCCCCTCCAGGTTGAGATTCTTTATTCTGGAGGTAGGAAGGGGGTCAGCATGCTCAGGTGGGAAGGGTCCAGCCCAGCTCCTCCAGCCCCCCAGTGCATGCCCAGCCCCAATAAGTTACCCAGTTACTCAGCTGCCCTCCCTCCTGGGTCCATCTGTCCTTCTGTTCCACCCTAGACAGGGCCAACCTGACTCAACACAAGGGCTGCTTGTCCCCAGCCTGTGGGCAGTGCCACACGGCAGGCTAGGGGAGGGGTGAAGCAGCAGGACCATGCCCTGGGCCTGGAGGGGCAGAGGGGCCACTTCTGGCTCCAAGGGTCAGGACTTGGAAAACCACATCCTGGGCAGGCCTGGGGCCCAGTCCCACAAGGTCTGTGCCTGAAAAGAGGTGGTAGTTGGGGTGGGGCCGCCATCACACCTCAATTGCTGGGTCTGAGCCCCGGCCCTGCCGCTGCAGCTGCTCCTCCTGCTTCATCTTGGGCTTCTCTGTCCGAGTATGCCACACCAGTACCTGTGCCAGGAGGGATGCAGTGAGAGCCAGGCCCAGCTGCAGCCAGGCCTCTGGGTCCCCGAGCCTGGAATGGATTCTCTAACCCTATCGACATATACAGTATAGGCTTCAAAGTGTAAAGGGCAGGGTGGAGGAAGACTTAGTGCCTCTAAAACCGGGCCTTGGCCGGGCGCGTGGCTCACGCCTGTAACCCCAGCACTTTGGGAGGCCGAGGAAGGCGGATCACGAGGTCAGGAGATTGAGACCATCCTGGCTAACACCGTGAAACCCCGTCACTACTAAAAACACAAAAAAATTAGCCGGGCGTGGTAGCGGGTGCCTGTAGTCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATGGTGTGAACCCGGGAGGCGGAGCTTGCGCTAAGCCAAGATTGCGCTACTGCACTCCAGCCTGGGTGACACAGCGAGACTCTGTCTGAAAAAAAAAAAAAAACAACAAACAGGGCCTTATTCCTTCATCCTCTCTGTGCCACATGGGTTCCCAGAACTCGGGGCAGAGTGGCAGGAGACCACTTTCCCCCGCTAGTTCCCAGCTTCCCCTTCAGTAGAGTCAGCAAGGCTGATCAGAGATCTGGAGAGTCCCTCCTGGTTAAACCACCCATTCCCAGGGTCTCACTGTACCTCCCCCATCACCTGTCCATCCAAGAGCCAGGTTTCTATGCCCATCTCCATTCCCTTACCCGAGTGCAGTTGGCAGCCCGTGGCTCCAGGTCCTTGGGATCCACAAGGTGGCTCAGAAGACTGCTCTCCAGGTGGCCCCGGGGAGCGGTGGAATCAAATTGGGCATTGGGCTTATCTAACAGCAAGGGCAGGGCCACGGCAAATCCAGCCATATCCACAGGGAAGGGCCTGCTGGGCTCCCATGCTGTGTGGAAGCCCACTACCCGGCCGTCCTGTACCTGAGGGCCCTCGAATCGCAGGCCGCCCACCAGCCCCACAGGCCACACTGAGACACCACGGGTCCAGCGCATCTAACGGAGGTCGGGAGAGAAGAAACAGAGGGGTGGTCCGGGGAAGGGAGCAGCAGAAAGAGCCACCTGGCTCACTCTGCCCCACTGCTTCCAGCCCCTCACCCAGCAGCCAACGGCAACACTGCTAACCAAGGTAACGAATGAAGCTGGCCGCACCTGGTCTCTTGCCCATCCCCATCCTGGTGCTCACCTCCTCAAACAGCTCCCGGCTGTAGGTGTTGTCATCGTCAGCAAAGTAGACGACTCCTTGGGTCCCTGGTGGTGGTGGGTCCTTCTCCCCACCCACAGCACCCCCTCTGCCCCGGAGCCAGTCCAGGGCCTTGTTCCGCTGCTCGACACCACGGGGATGAACCCAGCCAGGCTCGCCCTCCCGAAGCCGCTGGGCTTTGGGCGTGAGGACCACCAGGTGTGTGAAGAGGAGGCCAGAGGCAGCCAGCAGCCCTGAGACCAGCGGGGTGGGACCCTCAGCATCCTCCACCAGCAGCCAATGCAGCCGGGGCACCAGGCTCAGTGTCTGGGACAGTCGTACCAGCTCTGCCTTCTGTACCAGCCTGCAGGGGAGAGATGCAGCACAAGGAAAAGGGGCAGGCACCATTTGCCTGCTCCAGCCAGGGCAGACAGCTTCTCCTGGGCCACTGCCTGCGTCTCCTGTGGCCCTTCCCAACCAATGCCTAAACTCCCTCTTTCTTGCCTGTCAACTTCATGCTAACACTCACCTGCCCTGTTCTTCTGGTCCATGTCCATCACCCACCTCAACTCCAGAGCTCAGGCTGTGGGAGACTATAAATTAAGGGCACAGGGCCGGGCATGGTGGCTCACACCTATAATAACACTTTGGGAGGCTGAGGCAGGTGAATTACCTGAGGTCTGGAGTTCCAGACCAGCCTGGCCAATATGGTGAAACCCCATCTCTACTAAAAAAATACAAAAATTTGCTGGGTGTAGTGGCACATGCCTGTAATCTCAGCTACTTGGGAGGCTGAGGCAGGAGAATCGCTTGAACCTGGAAGGAGGAGGTTGGAGTGAGCTGAGATCGCACCATTTCACTCCAGCCTCAGTGATAACAGCAAAACTCCATCTCAAAAAAAAAAAAAAAAGGCCGGGCATGTTGGCTCACGCCTATAATCCCAGCACTTTAGGAGGCCGAGGTGGGCGGATCACCTGAGGTTAGGAGTTCGAGACCAGCCTGCCCAACATGGCGAAGCCCCGTCTCTATTAAAAATACAAAAAATTACCCAGGCATGGTGGCAGTCACCTGTAATCCTAGCTACTCGGGAGGCTGAGGCAGAAGAATCGCTTGAACCCGGGAGGCGAAGGTTGCAGTGAGCCGAGATTGTGCCACTGCACTCCAGCCTGAGCGACAAGAGCGAAACTCTGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAACAAATTAAGGGCACAGGCTTTGGGATCAGGTAGATCTGGGTTTGAAATCCAGTTTTGTAACTTATTATGTGAGACAATTTGGGAAAATGGCTCAATCTCCCTAAGCCTCAGTTTCCTCAACTGTAAAATGGGAATAACAGTACTTTATAACAATGTTGTTTTAAAGATTAAATAAGAGCTGGGGATGGTGGCTCACACCTGTAATCCCAGCACTTTGGGAAGCTGAGGCAGGTGGATCATGAGGTCAGGAGATCGAGACCATCCTGGCTAACACGGTGAAACCCCATCTCTACTAAAAATATAAAAAATTAGCTGGGTGTGGTGGCGGGCACCTGTAGTCCCAGCTACTTGGGAGGCTGAGGCAGGAGA
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ATGCTGGCTGTCACCTTCCTACTGCAGGTGAGTCAGCAAAGCATCTGACACCTCCTCCCACCCGGGACTCCTCCCTGCCTCCAACCCTGGGCCTCTTGGAACCGCTGACTCTCCCTGACTCTTTCCCCTTGCTTCCCCCACAGGCTCTGGTGCTCCTTGGCCTGCGGTACCTGCAAACAGCACTGGAGGGGCTTGGAGGGGTCATTGATGCGGGAGGAGAGACCCAGGGCTATCTCTTTCCCAGTGGGCTGAAAGATATGCTGAAAACAGCATGGCTACAGGGAGGGGTTGCCTGCAGGCCAGCACCTGAGGAGGCCCCACCAGGAGAAGCACCTCCCAAGGAGGATCTATCTGAGGCCTAGAGGCCTGGAGCTTGGGGTGAGGAAGAGGGAGGGATGGACAAGTCTGAAAACCTCACAACTCCTTACCAAGGCTCCAGGTTGGGGGGATCGTAGGATTAGAGGGGCTAAGGATAGTCAGCGAGCTGGACTGGGGTAAGAAAGAAAACCAGATGTCCTAGGGCCTAGCCCTTGTAGTCAGAACCACCAGGGAACAGCAAAGAACAGAGTGATGGGAAAGTGACATGAGAAGGCCTGGAGGCTGATTCTGATATAGACTCAATAAAGTTTTTGGATGGAAGCAATTGCTTTTTCTTGTCAAGGGGATGGGGGCCTGGGAGAACTGATTTCTGTCTGATGGAGCAGCTAGGACTCCAAAGTTTGGACCCTGGCTCGACCTGTGCAGCAACAGGAGCCCACATCTGTAAGGATCAGAAAGCAAGAACCCAATGTAAGAAGCAAAGGAAAACAAGAGGCCCCTCCAGGTTGAGATTCTTTATTCTGGAGGTAGGAAGGGGGTCAGCATGCTCAGGTGGGAAGGGTCCAGCCCAGCTCCTCCAGCCCCCCAGTGCATGCCCAGCCCCAATAAGTTACCCAGTTACTCAGCTGCCCTCCCTCCTGGGTCCATCTGTCCTTCTGTTCCACCCTAGACAGGGCCAACCTGACTCAACACAAGGGCTGCTTGTCCCCAGCCTGTGGGCAGTGCCACACGGCAGGCTAGGGGAGGGGTGAAGCAGCAGGACCATGCCCTGGGCCTGGAGGGGCAGAGGGGCCACTTCTGGCTCCAAGGGTCAGGACTTGGAAAACCACATCCTGGGCAGGCCTGGGGCCCAGTCCCACAAGGTCTGTGCCTGAAAAGAGGTGGTAGTTGGGGTGGGGCCGCCATCACACCTCAATTGCTGGGTCTGAGCCCCGGCCCTGCCGCTGCAGCTGCTCCTCCTGCTTCATCTTGGGCTTCTCTGTCCGAGTATGCCACACCAGTACCTGTGCCAGGAGGGATGCAGTGAGAGCCAGGCCCAGCTGCAGCCAGGCCTCTGGGTCCCCGAGCCTGGAATGGATTCTCTAACCCTATCGACATATACAGTATAGGCTTCAAAGTGTAAAGGGCAGGGTGGAGGAAGACTTAGTGCCTCTAAAACCGGGCCTTGGCCGGGCGCGTGGCTCACGCCTGTAACCCCAGCACTTTGGGAGGCCGAGGAAGGCGGATCACGAGGTCAGGAGATTGAGACCATCCTGGCTAACACCGTGAAACCCCGTCACTACTAAAAACACAAAAAAATTAGCCGGGCGTGGTAGCGGGTGCCTGTAGTCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATGGTGTGAACCCGGGAGGCGGAGCTTGCGCTAAGCCAAGATTGCGCTACTGCACTCCAGCCTGGGTGACACAGCGAGACTCTGTCTGAAAAAAAAAAAAAAACAACAAACAGGGCCTTATTCCTTCATCCTCTCTGTGCCACATGGGTTCCCAGAACTCGGGGCAGAGTGGCAGGAGACCACTTTCCCCCGCTAGTTCCCAGCTTCCCCTTCAGTAGAGTCAGCAAGGCTGATCAGAGATCTGGAGAGTCCCTCCTGGTTAAACCACCCATTCCCAGGGTCTCACTGTACCTCCCCCATCACCTGTCCATCCAAGAGCCAGGTTTCTATGCCCATCTCCATTCCCTTACCCGAGTGCAGTTGGCAGCCCATGGCTCCAGGTCCTTGGGATCCACAAGGTGGCTCAGAAGACTGCTCTCCAGGTGGCCCCGGGGAGCGGTGGAATCAAATTGGGCATTGGGCTTATCTAACAGCAAGGGCAGGGCCACGGCAAATCCAGCCATATCCACAGGGAAGGGCCTGCTGGGCTCCCATGCTGTGTGGAAGCCCACTACCCGGCCGTCCTGTACCTGAGGGCCCTCGAATCGCAGGCCGCCCACCAGCCCCACAGGCCACACTGAGACACCACGGGTCCAGCGCATCTAACGGAGGTCGGGAGAGAAGAAACAGAGGGGTGGTCCGGGGAAGGGAGCAGCAGAAAGAGCCACCTGGCTCACTCTGCCCCACTGCTTCCAGCCCCTCACCCAGCAGCCAACGGCAACACTGCTAACCAAGGTAACGAATGAAGCTGGCCGCACCTGGTCTCTTGCCCATCCCCATCCTGGTGCTCACCTCCTCAAACAGCTCCCGGCTGTAGGTGTTGTCATCGTCAGCAAAGTAGACGACTCCTTGGGTCCCTGGTGGTGGTGGGTCCTTCTCCCCACCCACAGCACCCCCTCTGCCCCGGAGCCAGTCCAGGGCCTTGTTCCGCTGCTCGACACCACGGGGATGAACCCAGCCAGGCTCGCCCTCCCGAAGCCGCTGGGCTTTGGGCGTGAGGACCACCAGGTGTGTGAAGAGGAGGCCAGAGGCAGCCAGCAGCCCTGAGACCAGCGGGGTGGGACCCTCAGCATCCTCCACCAGCAGCCAATGCAGCCGGGGCACCAGGCTCAGTGTCTGGGACAGTCGTACCAGCTCTGCCTTCTGTACCAGCCTGCAGGGGAGAGATGCAGCACAAGGAAAAGGGGCAGGCACCATTTGCCTGCTCCAGCCAGGGCAGACAGCTTCTCCTGGGCCACTGCCTGCGTCTCCTGTGGCCCTTCCCAACCAATGCCTAAACTCCCTCTTTCTTGCCTGTCAACTTCATGCTAACACTCACCTGCCCTGTTCTTCTGGTCCATGTCCATCACCCACCTCAACTCCAGAGCTCAGGCTGTGGGAGACTATAAATTAAGGGCACAGGGCCGGGCATGGTGGCTCACACCTATAATAACACTTTGGGAGGCTGAGGCAGGTGAATTACCTGAGGTCTGGAGTTCCAGACCAGCCTGGCCAATATGGTGAAACCCCATCTCTACTAAAAAAATACAAAAATTTGCTGGGTGTAGTGGCACATGCCTGTAATCTCAGCTACTTGGGAGGCTGAGGCAGGAGAATCGCTTGAACCTGGAAGGAGGAGGTTGGAGTGAGCTGAGATCGCACCATTTCACTCCAGCCTCAGTGATAACAGCAAAACTCCATCTCAAAAAAAAAAAAAAAAGGCCGGGCATGTTGGCTCACGCCTATAATCCCAGCACTTTAGGAGGCCGAGGTGGGCGGATCACCTGAGGTTAGGAGTTCGAGACCAGCCTGCCCAACATGGCGAAGCCCCGTCTCTATTAAAAATACAAAAAATTACCCAGGCATGGTGGCAGTCACCTGTAATCCTAGCTACTCGGGAGGCTGAGGCAGAAGAATCGCTTGAACCCGGGAGGCGAAGGTTGCAGTGAGCCGAGATTGTGCCACTGCACTCCAGCCTGAGCGACAAGAGCGAAACTCTGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAACAAATTAAGGGCACAGGCTTTGGGATCAGGTAGATCTGGGTTTGAAATCCAGTTTTGTAACTTATTATGTGAGACAATTTGGGAAAATGGCTCAATCTCCCTAAGCCTCAGTTTCCTCAACTGTAAAATGGGAATAACAGTACTTTATAACAATGTTGTTTTAAAGATTAAATAAGAGCTGGGGATGGTGGCTCACACCTGTAATCCCAGCACTTTGGGAAGCTGAGGCAGGTGGATCATGAGGTCAGGAGATCGAGACCATCCTGGCTAACACGGTGAAACCCCATCTCTACTAAAAATATAAAAAATTAGCTGGGTGTGGTGGCGGGCACCTGTAGTCCCAGCTACTTGGGAGGCTGAGGCAGGAGA
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Task1_train_15975
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A change on Chromosome 11 affects gene B3GAT3 (beta-1,3-glucuronyltransferase 3). Identify whether the variant is neutral or disease-linked. Mention the disease if applicable.
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Pathogenic; not provided
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GAGACCCAGGGCTATCTCTTTCCCAGTGGGCTGAAAGATATGCTGAAAACAGCATGGCTACAGGGAGGGGTTGCCTGCAGGCCAGCACCTGAGGAGGCCCCACCAGGAGAAGCACCTCCCAAGGAGGATCTATCTGAGGCCTAGAGGCCTGGAGCTTGGGGTGAGGAAGAGGGAGGGATGGACAAGTCTGAAAACCTCACAACTCCTTACCAAGGCTCCAGGTTGGGGGGATCGTAGGATTAGAGGGGCTAAGGATAGTCAGCGAGCTGGACTGGGGTAAGAAAGAAAACCAGATGTCCTAGGGCCTAGCCCTTGTAGTCAGAACCACCAGGGAACAGCAAAGAACAGAGTGATGGGAAAGTGACATGAGAAGGCCTGGAGGCTGATTCTGATATAGACTCAATAAAGTTTTTGGATGGAAGCAATTGCTTTTTCTTGTCAAGGGGATGGGGGCCTGGGAGAACTGATTTCTGTCTGATGGAGCAGCTAGGACTCCAAAGTTTGGACCCTGGCTCGACCTGTGCAGCAACAGGAGCCCACATCTGTAAGGATCAGAAAGCAAGAACCCAATGTAAGAAGCAAAGGAAAACAAGAGGCCCCTCCAGGTTGAGATTCTTTATTCTGGAGGTAGGAAGGGGGTCAGCATGCTCAGGTGGGAAGGGTCCAGCCCAGCTCCTCCAGCCCCCCAGTGCATGCCCAGCCCCAATAAGTTACCCAGTTACTCAGCTGCCCTCCCTCCTGGGTCCATCTGTCCTTCTGTTCCACCCTAGACAGGGCCAACCTGACTCAACACAAGGGCTGCTTGTCCCCAGCCTGTGGGCAGTGCCACACGGCAGGCTAGGGGAGGGGTGAAGCAGCAGGACCATGCCCTGGGCCTGGAGGGGCAGAGGGGCCACTTCTGGCTCCAAGGGTCAGGACTTGGAAAACCACATCCTGGGCAGGCCTGGGGCCCAGTCCCACAAGGTCTGTGCCTGAAAAGAGGTGGTAGTTGGGGTGGGGCCGCCATCACACCTCAATTGCTGGGTCTGAGCCCCGGCCCTGCCGCTGCAGCTGCTCCTCCTGCTTCATCTTGGGCTTCTCTGTCCGAGTATGCCACACCAGTACCTGTGCCAGGAGGGATGCAGTGAGAGCCAGGCCCAGCTGCAGCCAGGCCTCTGGGTCCCCGAGCCTGGAATGGATTCTCTAACCCTATCGACATATACAGTATAGGCTTCAAAGTGTAAAGGGCAGGGTGGAGGAAGACTTAGTGCCTCTAAAACCGGGCCTTGGCCGGGCGCGTGGCTCACGCCTGTAACCCCAGCACTTTGGGAGGCCGAGGAAGGCGGATCACGAGGTCAGGAGATTGAGACCATCCTGGCTAACACCGTGAAACCCCGTCACTACTAAAAACACAAAAAAATTAGCCGGGCGTGGTAGCGGGTGCCTGTAGTCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATGGTGTGAACCCGGGAGGCGGAGCTTGCGCTAAGCCAAGATTGCGCTACTGCACTCCAGCCTGGGTGACACAGCGAGACTCTGTCTGAAAAAAAAAAAAAAACAACAAACAGGGCCTTATTCCTTCATCCTCTCTGTGCCACATGGGTTCCCAGAACTCGGGGCAGAGTGGCAGGAGACCACTTTCCCCCGCTAGTTCCCAGCTTCCCCTTCAGTAGAGTCAGCAAGGCTGATCAGAGATCTGGAGAGTCCCTCCTGGTTAAACCACCCATTCCCAGGGTCTCACTGTACCTCCCCCATCACCTGTCCATCCAAGAGCCAGGTTTCTATGCCCATCTCCATTCCCTTACCCGAGTGCAGTTGGCAGCCCGTGGCTCCAGGTCCTTGGGATCCACAAGGTGGCTCAGAAGACTGCTCTCCAGGTGGCCCCGGGGAGCGGTGGAATCAAATTGGGCATTGGGCTTATCTAACAGCAAGGGCAGGGCCACGGCAAATCCAGCCATATCCACAGGGAAGGGCCTGCTGGGCTCCCATGCTGTGTGGAAGCCCACTACCCGGCCGTCCTGTACCTGAGGGCCCTCGAATCGCAGGCCGCCCACCAGCCCCACAGGCCACACTGAGACACCACGGGTCCAGCGCATCTAACGGAGGTCGGGAGAGAAGAAACAGAGGGGTGGTCCGGGGAAGGGAGCAGCAGAAAGAGCCACCTGGCTCACTCTGCCCCACTGCTTCCAGCCCCTCACCCAGCAGCCAACGGCAACACTGCTAACCAAGGTAACGAATGAAGCTGGCCGCACCTGGTCTCTTGCCCATCCCCATCCTGGTGCTCACCTCCTCAAACAGCTCCCGGCTGTAGGTGTTGTCATCGTCAGCAAAGTAGACGACTCCTTGGGTCCCTGGTGGTGGTGGGTCCTTCTCCCCACCCACAGCACCCCCTCTGCCCCGGAGCCAGTCCAGGGCCTTGTTCCGCTGCTCGACACCACGGGGATGAACCCAGCCAGGCTCGCCCTCCCGAAGCCGCTGGGCTTTGGGCGTGAGGACCACCAGGTGTGTGAAGAGGAGGCCAGAGGCAGCCAGCAGCCCTGAGACCAGCGGGGTGGGACCCTCAGCATCCTCCACCAGCAGCCAATGCAGCCGGGGCACCAGGCTCAGTGTCTGGGACAGTCGTACCAGCTCTGCCTTCTGTACCAGCCTGCAGGGGAGAGATGCAGCACAAGGAAAAGGGGCAGGCACCATTTGCCTGCTCCAGCCAGGGCAGACAGCTTCTCCTGGGCCACTGCCTGCGTCTCCTGTGGCCCTTCCCAACCAATGCCTAAACTCCCTCTTTCTTGCCTGTCAACTTCATGCTAACACTCACCTGCCCTGTTCTTCTGGTCCATGTCCATCACCCACCTCAACTCCAGAGCTCAGGCTGTGGGAGACTATAAATTAAGGGCACAGGGCCGGGCATGGTGGCTCACACCTATAATAACACTTTGGGAGGCTGAGGCAGGTGAATTACCTGAGGTCTGGAGTTCCAGACCAGCCTGGCCAATATGGTGAAACCCCATCTCTACTAAAAAAATACAAAAATTTGCTGGGTGTAGTGGCACATGCCTGTAATCTCAGCTACTTGGGAGGCTGAGGCAGGAGAATCGCTTGAACCTGGAAGGAGGAGGTTGGAGTGAGCTGAGATCGCACCATTTCACTCCAGCCTCAGTGATAACAGCAAAACTCCATCTCAAAAAAAAAAAAAAAAGGCCGGGCATGTTGGCTCACGCCTATAATCCCAGCACTTTAGGAGGCCGAGGTGGGCGGATCACCTGAGGTTAGGAGTTCGAGACCAGCCTGCCCAACATGGCGAAGCCCCGTCTCTATTAAAAATACAAAAAATTACCCAGGCATGGTGGCAGTCACCTGTAATCCTAGCTACTCGGGAGGCTGAGGCAGAAGAATCGCTTGAACCCGGGAGGCGAAGGTTGCAGTGAGCCGAGATTGTGCCACTGCACTCCAGCCTGAGCGACAAGAGCGAAACTCTGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAACAAATTAAGGGCACAGGCTTTGGGATCAGGTAGATCTGGGTTTGAAATCCAGTTTTGTAACTTATTATGTGAGACAATTTGGGAAAATGGCTCAATCTCCCTAAGCCTCAGTTTCCTCAACTGTAAAATGGGAATAACAGTACTTTATAACAATGTTGTTTTAAAGATTAAATAAGAGCTGGGGATGGTGGCTCACACCTGTAATCCCAGCACTTTGGGAAGCTGAGGCAGGTGGATCATGAGGTCAGGAGATCGAGACCATCCTGGCTAACACGGTGAAACCCCATCTCTACTAAAAATATAAAAAATTAGCTGGGTGTGGTGGCGGGCACCTGTAGTCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCAGAGCTTGCAGTGAGCCAAGATCACGCCATTGCACCCAGCCTAGATGACAGAGCGAGACTCCATCTCAAAAAAAAAAAAAATACAAAAGTAAAATACAAAAAATTACTGGCCAGGCATGGTGGCTCACACCTGTAATCCCAGCACTTTGAGAGGCCGAAGCAGGTGGAACACGAAGTCAGGAGTTCCAGACCAGCCTG
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GAGACCCAGGGCTATCTCTTTCCCAGTGGGCTGAAAGATATGCTGAAAACAGCATGGCTACAGGGAGGGGTTGCCTGCAGGCCAGCACCTGAGGAGGCCCCACCAGGAGAAGCACCTCCCAAGGAGGATCTATCTGAGGCCTAGAGGCCTGGAGCTTGGGGTGAGGAAGAGGGAGGGATGGACAAGTCTGAAAACCTCACAACTCCTTACCAAGGCTCCAGGTTGGGGGGATCGTAGGATTAGAGGGGCTAAGGATAGTCAGCGAGCTGGACTGGGGTAAGAAAGAAAACCAGATGTCCTAGGGCCTAGCCCTTGTAGTCAGAACCACCAGGGAACAGCAAAGAACAGAGTGATGGGAAAGTGACATGAGAAGGCCTGGAGGCTGATTCTGATATAGACTCAATAAAGTTTTTGGATGGAAGCAATTGCTTTTTCTTGTCAAGGGGATGGGGGCCTGGGAGAACTGATTTCTGTCTGATGGAGCAGCTAGGACTCCAAAGTTTGGACCCTGGCTCGACCTGTGCAGCAACAGGAGCCCACATCTGTAAGGATCAGAAAGCAAGAACCCAATGTAAGAAGCAAAGGAAAACAAGAGGCCCCTCCAGGTTGAGATTCTTTATTCTGGAGGTAGGAAGGGGGTCAGCATGCTCAGGTGGGAAGGGTCCAGCCCAGCTCCTCCAGCCCCCCAGTGCATGCCCAGCCCCAATAAGTTACCCAGTTACTCAGCTGCCCTCCCTCCTGGGTCCATCTGTCCTTCTGTTCCACCCTAGACAGGGCCAACCTGACTCAACACAAGGGCTGCTTGTCCCCAGCCTGTGGGCAGTGCCACACGGCAGGCTAGGGGAGGGGTGAAGCAGCAGGACCATGCCCTGGGCCTGGAGGGGCAGAGGGGCCACTTCTGGCTCCAAGGGTCAGGACTTGGAAAACCACATCCTGGGCAGGCCTGGGGCCCAGTCCCACAAGGTCTGTGCCTGAAAAGAGGTGGTAGTTGGGGTGGGGCCGCCATCACACCTCAATTGCTGGGTCTGAGCCCCGGCCCTGCCGCTGCAGCTGCTCCTCCTGCTTCATCTTGGGCTTCTCTGTCCGAGTATGCCACACCAGTACCTGTGCCAGGAGGGATGCAGTGAGAGCCAGGCCCAGCTGCAGCCAGGCCTCTGGGTCCCCGAGCCTGGAATGGATTCTCTAACCCTATCGACATATACAGTATAGGCTTCAAAGTGTAAAGGGCAGGGTGGAGGAAGACTTAGTGCCTCTAAAACCGGGCCTTGGCCGGGCGCGTGGCTCACGCCTGTAACCCCAGCACTTTGGGAGGCCGAGGAAGGCGGATCACGAGGTCAGGAGATTGAGACCATCCTGGCTAACACCGTGAAACCCCGTCACTACTAAAAACACAAAAAAATTAGCCGGGCGTGGTAGCGGGTGCCTGTAGTCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATGGTGTGAACCCGGGAGGCGGAGCTTGCGCTAAGCCAAGATTGCGCTACTGCACTCCAGCCTGGGTGACACAGCGAGACTCTGTCTGAAAAAAAAAAAAAAACAACAAACAGGGCCTTATTCCTTCATCCTCTCTGTGCCACATGGGTTCCCAGAACTCGGGGCAGAGTGGCAGGAGACCACTTTCCCCCGCTAGTTCCCAGCTTCCCCTTCAGTAGAGTCAGCAAGGCTGATCAGAGATCTGGAGAGTCCCTCCTGGTTAAACCACCCATTCCCAGGGTCTCACTGTACCTCCCCCATCACCTGTCCATCCAAGAGCCAGGTTTCTATGCCCATCTCCATTCCCTTACCCGAGTGCAGTTGGCAGCCCGTGGCTCCAGGTCCTTGGGATCCACAAGGTGGCTCAGAAGACTGCTCTCCAGGTGGCCCCGGGGAGCGGTGGAATCAAATTGGGCATTGGGCTTATCTAACAGCAAGGGCAGGGCCACGGCAAATCCAGCCATATCCACAGGGAAGGGCCTGCTGGGCTCCCATGCTGTGTGGAAGCCCACTACCCGGCCGTCCTGTACCTGAGGGCCCTCGAATCGCTGGCCGCCCACCAGCCCCACAGGCCACACTGAGACACCACGGGTCCAGCGCATCTAACGGAGGTCGGGAGAGAAGAAACAGAGGGGTGGTCCGGGGAAGGGAGCAGCAGAAAGAGCCACCTGGCTCACTCTGCCCCACTGCTTCCAGCCCCTCACCCAGCAGCCAACGGCAACACTGCTAACCAAGGTAACGAATGAAGCTGGCCGCACCTGGTCTCTTGCCCATCCCCATCCTGGTGCTCACCTCCTCAAACAGCTCCCGGCTGTAGGTGTTGTCATCGTCAGCAAAGTAGACGACTCCTTGGGTCCCTGGTGGTGGTGGGTCCTTCTCCCCACCCACAGCACCCCCTCTGCCCCGGAGCCAGTCCAGGGCCTTGTTCCGCTGCTCGACACCACGGGGATGAACCCAGCCAGGCTCGCCCTCCCGAAGCCGCTGGGCTTTGGGCGTGAGGACCACCAGGTGTGTGAAGAGGAGGCCAGAGGCAGCCAGCAGCCCTGAGACCAGCGGGGTGGGACCCTCAGCATCCTCCACCAGCAGCCAATGCAGCCGGGGCACCAGGCTCAGTGTCTGGGACAGTCGTACCAGCTCTGCCTTCTGTACCAGCCTGCAGGGGAGAGATGCAGCACAAGGAAAAGGGGCAGGCACCATTTGCCTGCTCCAGCCAGGGCAGACAGCTTCTCCTGGGCCACTGCCTGCGTCTCCTGTGGCCCTTCCCAACCAATGCCTAAACTCCCTCTTTCTTGCCTGTCAACTTCATGCTAACACTCACCTGCCCTGTTCTTCTGGTCCATGTCCATCACCCACCTCAACTCCAGAGCTCAGGCTGTGGGAGACTATAAATTAAGGGCACAGGGCCGGGCATGGTGGCTCACACCTATAATAACACTTTGGGAGGCTGAGGCAGGTGAATTACCTGAGGTCTGGAGTTCCAGACCAGCCTGGCCAATATGGTGAAACCCCATCTCTACTAAAAAAATACAAAAATTTGCTGGGTGTAGTGGCACATGCCTGTAATCTCAGCTACTTGGGAGGCTGAGGCAGGAGAATCGCTTGAACCTGGAAGGAGGAGGTTGGAGTGAGCTGAGATCGCACCATTTCACTCCAGCCTCAGTGATAACAGCAAAACTCCATCTCAAAAAAAAAAAAAAAAGGCCGGGCATGTTGGCTCACGCCTATAATCCCAGCACTTTAGGAGGCCGAGGTGGGCGGATCACCTGAGGTTAGGAGTTCGAGACCAGCCTGCCCAACATGGCGAAGCCCCGTCTCTATTAAAAATACAAAAAATTACCCAGGCATGGTGGCAGTCACCTGTAATCCTAGCTACTCGGGAGGCTGAGGCAGAAGAATCGCTTGAACCCGGGAGGCGAAGGTTGCAGTGAGCCGAGATTGTGCCACTGCACTCCAGCCTGAGCGACAAGAGCGAAACTCTGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAACAAATTAAGGGCACAGGCTTTGGGATCAGGTAGATCTGGGTTTGAAATCCAGTTTTGTAACTTATTATGTGAGACAATTTGGGAAAATGGCTCAATCTCCCTAAGCCTCAGTTTCCTCAACTGTAAAATGGGAATAACAGTACTTTATAACAATGTTGTTTTAAAGATTAAATAAGAGCTGGGGATGGTGGCTCACACCTGTAATCCCAGCACTTTGGGAAGCTGAGGCAGGTGGATCATGAGGTCAGGAGATCGAGACCATCCTGGCTAACACGGTGAAACCCCATCTCTACTAAAAATATAAAAAATTAGCTGGGTGTGGTGGCGGGCACCTGTAGTCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCAGAGCTTGCAGTGAGCCAAGATCACGCCATTGCACCCAGCCTAGATGACAGAGCGAGACTCCATCTCAAAAAAAAAAAAAATACAAAAGTAAAATACAAAAAATTACTGGCCAGGCATGGTGGCTCACACCTGTAATCCCAGCACTTTGAGAGGCCGAAGCAGGTGGAACACGAAGTCAGGAGTTCCAGACCAGCCTG
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Task1_train_15976
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This genomic variant is located on Chromosome 11, within the B3GAT3 (beta-1,3-glucuronyltransferase 3) gene. Can you determine its pathogenicity and name any linked disease?
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Pathogenic; MULTIPLE JOINT DISLOCATIONS, SHORT STATURE, AND CRANIOFACIAL DYSMORPHISM WITH CONGENITAL HEART DEFECTS
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CCCAGGGCTATCTCTTTCCCAGTGGGCTGAAAGATATGCTGAAAACAGCATGGCTACAGGGAGGGGTTGCCTGCAGGCCAGCACCTGAGGAGGCCCCACCAGGAGAAGCACCTCCCAAGGAGGATCTATCTGAGGCCTAGAGGCCTGGAGCTTGGGGTGAGGAAGAGGGAGGGATGGACAAGTCTGAAAACCTCACAACTCCTTACCAAGGCTCCAGGTTGGGGGGATCGTAGGATTAGAGGGGCTAAGGATAGTCAGCGAGCTGGACTGGGGTAAGAAAGAAAACCAGATGTCCTAGGGCCTAGCCCTTGTAGTCAGAACCACCAGGGAACAGCAAAGAACAGAGTGATGGGAAAGTGACATGAGAAGGCCTGGAGGCTGATTCTGATATAGACTCAATAAAGTTTTTGGATGGAAGCAATTGCTTTTTCTTGTCAAGGGGATGGGGGCCTGGGAGAACTGATTTCTGTCTGATGGAGCAGCTAGGACTCCAAAGTTTGGACCCTGGCTCGACCTGTGCAGCAACAGGAGCCCACATCTGTAAGGATCAGAAAGCAAGAACCCAATGTAAGAAGCAAAGGAAAACAAGAGGCCCCTCCAGGTTGAGATTCTTTATTCTGGAGGTAGGAAGGGGGTCAGCATGCTCAGGTGGGAAGGGTCCAGCCCAGCTCCTCCAGCCCCCCAGTGCATGCCCAGCCCCAATAAGTTACCCAGTTACTCAGCTGCCCTCCCTCCTGGGTCCATCTGTCCTTCTGTTCCACCCTAGACAGGGCCAACCTGACTCAACACAAGGGCTGCTTGTCCCCAGCCTGTGGGCAGTGCCACACGGCAGGCTAGGGGAGGGGTGAAGCAGCAGGACCATGCCCTGGGCCTGGAGGGGCAGAGGGGCCACTTCTGGCTCCAAGGGTCAGGACTTGGAAAACCACATCCTGGGCAGGCCTGGGGCCCAGTCCCACAAGGTCTGTGCCTGAAAAGAGGTGGTAGTTGGGGTGGGGCCGCCATCACACCTCAATTGCTGGGTCTGAGCCCCGGCCCTGCCGCTGCAGCTGCTCCTCCTGCTTCATCTTGGGCTTCTCTGTCCGAGTATGCCACACCAGTACCTGTGCCAGGAGGGATGCAGTGAGAGCCAGGCCCAGCTGCAGCCAGGCCTCTGGGTCCCCGAGCCTGGAATGGATTCTCTAACCCTATCGACATATACAGTATAGGCTTCAAAGTGTAAAGGGCAGGGTGGAGGAAGACTTAGTGCCTCTAAAACCGGGCCTTGGCCGGGCGCGTGGCTCACGCCTGTAACCCCAGCACTTTGGGAGGCCGAGGAAGGCGGATCACGAGGTCAGGAGATTGAGACCATCCTGGCTAACACCGTGAAACCCCGTCACTACTAAAAACACAAAAAAATTAGCCGGGCGTGGTAGCGGGTGCCTGTAGTCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATGGTGTGAACCCGGGAGGCGGAGCTTGCGCTAAGCCAAGATTGCGCTACTGCACTCCAGCCTGGGTGACACAGCGAGACTCTGTCTGAAAAAAAAAAAAAAACAACAAACAGGGCCTTATTCCTTCATCCTCTCTGTGCCACATGGGTTCCCAGAACTCGGGGCAGAGTGGCAGGAGACCACTTTCCCCCGCTAGTTCCCAGCTTCCCCTTCAGTAGAGTCAGCAAGGCTGATCAGAGATCTGGAGAGTCCCTCCTGGTTAAACCACCCATTCCCAGGGTCTCACTGTACCTCCCCCATCACCTGTCCATCCAAGAGCCAGGTTTCTATGCCCATCTCCATTCCCTTACCCGAGTGCAGTTGGCAGCCCGTGGCTCCAGGTCCTTGGGATCCACAAGGTGGCTCAGAAGACTGCTCTCCAGGTGGCCCCGGGGAGCGGTGGAATCAAATTGGGCATTGGGCTTATCTAACAGCAAGGGCAGGGCCACGGCAAATCCAGCCATATCCACAGGGAAGGGCCTGCTGGGCTCCCATGCTGTGTGGAAGCCCACTACCCGGCCGTCCTGTACCTGAGGGCCCTCGAATCGCAGGCCGCCCACCAGCCCCACAGGCCACACTGAGACACCACGGGTCCAGCGCATCTAACGGAGGTCGGGAGAGAAGAAACAGAGGGGTGGTCCGGGGAAGGGAGCAGCAGAAAGAGCCACCTGGCTCACTCTGCCCCACTGCTTCCAGCCCCTCACCCAGCAGCCAACGGCAACACTGCTAACCAAGGTAACGAATGAAGCTGGCCGCACCTGGTCTCTTGCCCATCCCCATCCTGGTGCTCACCTCCTCAAACAGCTCCCGGCTGTAGGTGTTGTCATCGTCAGCAAAGTAGACGACTCCTTGGGTCCCTGGTGGTGGTGGGTCCTTCTCCCCACCCACAGCACCCCCTCTGCCCCGGAGCCAGTCCAGGGCCTTGTTCCGCTGCTCGACACCACGGGGATGAACCCAGCCAGGCTCGCCCTCCCGAAGCCGCTGGGCTTTGGGCGTGAGGACCACCAGGTGTGTGAAGAGGAGGCCAGAGGCAGCCAGCAGCCCTGAGACCAGCGGGGTGGGACCCTCAGCATCCTCCACCAGCAGCCAATGCAGCCGGGGCACCAGGCTCAGTGTCTGGGACAGTCGTACCAGCTCTGCCTTCTGTACCAGCCTGCAGGGGAGAGATGCAGCACAAGGAAAAGGGGCAGGCACCATTTGCCTGCTCCAGCCAGGGCAGACAGCTTCTCCTGGGCCACTGCCTGCGTCTCCTGTGGCCCTTCCCAACCAATGCCTAAACTCCCTCTTTCTTGCCTGTCAACTTCATGCTAACACTCACCTGCCCTGTTCTTCTGGTCCATGTCCATCACCCACCTCAACTCCAGAGCTCAGGCTGTGGGAGACTATAAATTAAGGGCACAGGGCCGGGCATGGTGGCTCACACCTATAATAACACTTTGGGAGGCTGAGGCAGGTGAATTACCTGAGGTCTGGAGTTCCAGACCAGCCTGGCCAATATGGTGAAACCCCATCTCTACTAAAAAAATACAAAAATTTGCTGGGTGTAGTGGCACATGCCTGTAATCTCAGCTACTTGGGAGGCTGAGGCAGGAGAATCGCTTGAACCTGGAAGGAGGAGGTTGGAGTGAGCTGAGATCGCACCATTTCACTCCAGCCTCAGTGATAACAGCAAAACTCCATCTCAAAAAAAAAAAAAAAAGGCCGGGCATGTTGGCTCACGCCTATAATCCCAGCACTTTAGGAGGCCGAGGTGGGCGGATCACCTGAGGTTAGGAGTTCGAGACCAGCCTGCCCAACATGGCGAAGCCCCGTCTCTATTAAAAATACAAAAAATTACCCAGGCATGGTGGCAGTCACCTGTAATCCTAGCTACTCGGGAGGCTGAGGCAGAAGAATCGCTTGAACCCGGGAGGCGAAGGTTGCAGTGAGCCGAGATTGTGCCACTGCACTCCAGCCTGAGCGACAAGAGCGAAACTCTGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAACAAATTAAGGGCACAGGCTTTGGGATCAGGTAGATCTGGGTTTGAAATCCAGTTTTGTAACTTATTATGTGAGACAATTTGGGAAAATGGCTCAATCTCCCTAAGCCTCAGTTTCCTCAACTGTAAAATGGGAATAACAGTACTTTATAACAATGTTGTTTTAAAGATTAAATAAGAGCTGGGGATGGTGGCTCACACCTGTAATCCCAGCACTTTGGGAAGCTGAGGCAGGTGGATCATGAGGTCAGGAGATCGAGACCATCCTGGCTAACACGGTGAAACCCCATCTCTACTAAAAATATAAAAAATTAGCTGGGTGTGGTGGCGGGCACCTGTAGTCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCAGAGCTTGCAGTGAGCCAAGATCACGCCATTGCACCCAGCCTAGATGACAGAGCGAGACTCCATCTCAAAAAAAAAAAAAATACAAAAGTAAAATACAAAAAATTACTGGCCAGGCATGGTGGCTCACACCTGTAATCCCAGCACTTTGAGAGGCCGAAGCAGGTGGAACACGAAGTCAGGAGTTCCAGACCAGCCTGGCCA
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CCCAGGGCTATCTCTTTCCCAGTGGGCTGAAAGATATGCTGAAAACAGCATGGCTACAGGGAGGGGTTGCCTGCAGGCCAGCACCTGAGGAGGCCCCACCAGGAGAAGCACCTCCCAAGGAGGATCTATCTGAGGCCTAGAGGCCTGGAGCTTGGGGTGAGGAAGAGGGAGGGATGGACAAGTCTGAAAACCTCACAACTCCTTACCAAGGCTCCAGGTTGGGGGGATCGTAGGATTAGAGGGGCTAAGGATAGTCAGCGAGCTGGACTGGGGTAAGAAAGAAAACCAGATGTCCTAGGGCCTAGCCCTTGTAGTCAGAACCACCAGGGAACAGCAAAGAACAGAGTGATGGGAAAGTGACATGAGAAGGCCTGGAGGCTGATTCTGATATAGACTCAATAAAGTTTTTGGATGGAAGCAATTGCTTTTTCTTGTCAAGGGGATGGGGGCCTGGGAGAACTGATTTCTGTCTGATGGAGCAGCTAGGACTCCAAAGTTTGGACCCTGGCTCGACCTGTGCAGCAACAGGAGCCCACATCTGTAAGGATCAGAAAGCAAGAACCCAATGTAAGAAGCAAAGGAAAACAAGAGGCCCCTCCAGGTTGAGATTCTTTATTCTGGAGGTAGGAAGGGGGTCAGCATGCTCAGGTGGGAAGGGTCCAGCCCAGCTCCTCCAGCCCCCCAGTGCATGCCCAGCCCCAATAAGTTACCCAGTTACTCAGCTGCCCTCCCTCCTGGGTCCATCTGTCCTTCTGTTCCACCCTAGACAGGGCCAACCTGACTCAACACAAGGGCTGCTTGTCCCCAGCCTGTGGGCAGTGCCACACGGCAGGCTAGGGGAGGGGTGAAGCAGCAGGACCATGCCCTGGGCCTGGAGGGGCAGAGGGGCCACTTCTGGCTCCAAGGGTCAGGACTTGGAAAACCACATCCTGGGCAGGCCTGGGGCCCAGTCCCACAAGGTCTGTGCCTGAAAAGAGGTGGTAGTTGGGGTGGGGCCGCCATCACACCTCAATTGCTGGGTCTGAGCCCCGGCCCTGCCGCTGCAGCTGCTCCTCCTGCTTCATCTTGGGCTTCTCTGTCCGAGTATGCCACACCAGTACCTGTGCCAGGAGGGATGCAGTGAGAGCCAGGCCCAGCTGCAGCCAGGCCTCTGGGTCCCCGAGCCTGGAATGGATTCTCTAACCCTATCGACATATACAGTATAGGCTTCAAAGTGTAAAGGGCAGGGTGGAGGAAGACTTAGTGCCTCTAAAACCGGGCCTTGGCCGGGCGCGTGGCTCACGCCTGTAACCCCAGCACTTTGGGAGGCCGAGGAAGGCGGATCACGAGGTCAGGAGATTGAGACCATCCTGGCTAACACCGTGAAACCCCGTCACTACTAAAAACACAAAAAAATTAGCCGGGCGTGGTAGCGGGTGCCTGTAGTCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATGGTGTGAACCCGGGAGGCGGAGCTTGCGCTAAGCCAAGATTGCGCTACTGCACTCCAGCCTGGGTGACACAGCGAGACTCTGTCTGAAAAAAAAAAAAAAACAACAAACAGGGCCTTATTCCTTCATCCTCTCTGTGCCACATGGGTTCCCAGAACTCGGGGCAGAGTGGCAGGAGACCACTTTCCCCCGCTAGTTCCCAGCTTCCCCTTCAGTAGAGTCAGCAAGGCTGATCAGAGATCTGGAGAGTCCCTCCTGGTTAAACCACCCATTCCCAGGGTCTCACTGTACCTCCCCCATCACCTGTCCATCCAAGAGCCAGGTTTCTATGCCCATCTCCATTCCCTTACCCGAGTGCAGTTGGCAGCCCGTGGCTCCAGGTCCTTGGGATCCACAAGGTGGCTCAGAAGACTGCTCTCCAGGTGGCCCCGGGGAGCGGTGGAATCAAATTGGGCATTGGGCTTATCTAACAGCAAGGGCAGGGCCACGGCAAATCCAGCCATATCCACAGGGAAGGGCCTGCTGGGCTCCCATGCTGTGTGGAAGCCCACTACCCGGCCGTCCTGTACCTGAGGGCCCTCGAATCGCAGGCTGCCCACCAGCCCCACAGGCCACACTGAGACACCACGGGTCCAGCGCATCTAACGGAGGTCGGGAGAGAAGAAACAGAGGGGTGGTCCGGGGAAGGGAGCAGCAGAAAGAGCCACCTGGCTCACTCTGCCCCACTGCTTCCAGCCCCTCACCCAGCAGCCAACGGCAACACTGCTAACCAAGGTAACGAATGAAGCTGGCCGCACCTGGTCTCTTGCCCATCCCCATCCTGGTGCTCACCTCCTCAAACAGCTCCCGGCTGTAGGTGTTGTCATCGTCAGCAAAGTAGACGACTCCTTGGGTCCCTGGTGGTGGTGGGTCCTTCTCCCCACCCACAGCACCCCCTCTGCCCCGGAGCCAGTCCAGGGCCTTGTTCCGCTGCTCGACACCACGGGGATGAACCCAGCCAGGCTCGCCCTCCCGAAGCCGCTGGGCTTTGGGCGTGAGGACCACCAGGTGTGTGAAGAGGAGGCCAGAGGCAGCCAGCAGCCCTGAGACCAGCGGGGTGGGACCCTCAGCATCCTCCACCAGCAGCCAATGCAGCCGGGGCACCAGGCTCAGTGTCTGGGACAGTCGTACCAGCTCTGCCTTCTGTACCAGCCTGCAGGGGAGAGATGCAGCACAAGGAAAAGGGGCAGGCACCATTTGCCTGCTCCAGCCAGGGCAGACAGCTTCTCCTGGGCCACTGCCTGCGTCTCCTGTGGCCCTTCCCAACCAATGCCTAAACTCCCTCTTTCTTGCCTGTCAACTTCATGCTAACACTCACCTGCCCTGTTCTTCTGGTCCATGTCCATCACCCACCTCAACTCCAGAGCTCAGGCTGTGGGAGACTATAAATTAAGGGCACAGGGCCGGGCATGGTGGCTCACACCTATAATAACACTTTGGGAGGCTGAGGCAGGTGAATTACCTGAGGTCTGGAGTTCCAGACCAGCCTGGCCAATATGGTGAAACCCCATCTCTACTAAAAAAATACAAAAATTTGCTGGGTGTAGTGGCACATGCCTGTAATCTCAGCTACTTGGGAGGCTGAGGCAGGAGAATCGCTTGAACCTGGAAGGAGGAGGTTGGAGTGAGCTGAGATCGCACCATTTCACTCCAGCCTCAGTGATAACAGCAAAACTCCATCTCAAAAAAAAAAAAAAAAGGCCGGGCATGTTGGCTCACGCCTATAATCCCAGCACTTTAGGAGGCCGAGGTGGGCGGATCACCTGAGGTTAGGAGTTCGAGACCAGCCTGCCCAACATGGCGAAGCCCCGTCTCTATTAAAAATACAAAAAATTACCCAGGCATGGTGGCAGTCACCTGTAATCCTAGCTACTCGGGAGGCTGAGGCAGAAGAATCGCTTGAACCCGGGAGGCGAAGGTTGCAGTGAGCCGAGATTGTGCCACTGCACTCCAGCCTGAGCGACAAGAGCGAAACTCTGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAACAAATTAAGGGCACAGGCTTTGGGATCAGGTAGATCTGGGTTTGAAATCCAGTTTTGTAACTTATTATGTGAGACAATTTGGGAAAATGGCTCAATCTCCCTAAGCCTCAGTTTCCTCAACTGTAAAATGGGAATAACAGTACTTTATAACAATGTTGTTTTAAAGATTAAATAAGAGCTGGGGATGGTGGCTCACACCTGTAATCCCAGCACTTTGGGAAGCTGAGGCAGGTGGATCATGAGGTCAGGAGATCGAGACCATCCTGGCTAACACGGTGAAACCCCATCTCTACTAAAAATATAAAAAATTAGCTGGGTGTGGTGGCGGGCACCTGTAGTCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCAGAGCTTGCAGTGAGCCAAGATCACGCCATTGCACCCAGCCTAGATGACAGAGCGAGACTCCATCTCAAAAAAAAAAAAAATACAAAAGTAAAATACAAAAAATTACTGGCCAGGCATGGTGGCTCACACCTGTAATCCCAGCACTTTGAGAGGCCGAAGCAGGTGGAACACGAAGTCAGGAGTTCCAGACCAGCCTGGCCA
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Task1_train_15977
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A mutation on Chromosome 11 affecting B3GAT3 (beta-1,3-glucuronyltransferase 3) has been found. Is it harmful or harmless? What disease, if any, does it cause?
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Pathogenic; Larsen-like syndrome, B3GAT3 type
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GAAAGTGACATGAGAAGGCCTGGAGGCTGATTCTGATATAGACTCAATAAAGTTTTTGGATGGAAGCAATTGCTTTTTCTTGTCAAGGGGATGGGGGCCTGGGAGAACTGATTTCTGTCTGATGGAGCAGCTAGGACTCCAAAGTTTGGACCCTGGCTCGACCTGTGCAGCAACAGGAGCCCACATCTGTAAGGATCAGAAAGCAAGAACCCAATGTAAGAAGCAAAGGAAAACAAGAGGCCCCTCCAGGTTGAGATTCTTTATTCTGGAGGTAGGAAGGGGGTCAGCATGCTCAGGTGGGAAGGGTCCAGCCCAGCTCCTCCAGCCCCCCAGTGCATGCCCAGCCCCAATAAGTTACCCAGTTACTCAGCTGCCCTCCCTCCTGGGTCCATCTGTCCTTCTGTTCCACCCTAGACAGGGCCAACCTGACTCAACACAAGGGCTGCTTGTCCCCAGCCTGTGGGCAGTGCCACACGGCAGGCTAGGGGAGGGGTGAAGCAGCAGGACCATGCCCTGGGCCTGGAGGGGCAGAGGGGCCACTTCTGGCTCCAAGGGTCAGGACTTGGAAAACCACATCCTGGGCAGGCCTGGGGCCCAGTCCCACAAGGTCTGTGCCTGAAAAGAGGTGGTAGTTGGGGTGGGGCCGCCATCACACCTCAATTGCTGGGTCTGAGCCCCGGCCCTGCCGCTGCAGCTGCTCCTCCTGCTTCATCTTGGGCTTCTCTGTCCGAGTATGCCACACCAGTACCTGTGCCAGGAGGGATGCAGTGAGAGCCAGGCCCAGCTGCAGCCAGGCCTCTGGGTCCCCGAGCCTGGAATGGATTCTCTAACCCTATCGACATATACAGTATAGGCTTCAAAGTGTAAAGGGCAGGGTGGAGGAAGACTTAGTGCCTCTAAAACCGGGCCTTGGCCGGGCGCGTGGCTCACGCCTGTAACCCCAGCACTTTGGGAGGCCGAGGAAGGCGGATCACGAGGTCAGGAGATTGAGACCATCCTGGCTAACACCGTGAAACCCCGTCACTACTAAAAACACAAAAAAATTAGCCGGGCGTGGTAGCGGGTGCCTGTAGTCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATGGTGTGAACCCGGGAGGCGGAGCTTGCGCTAAGCCAAGATTGCGCTACTGCACTCCAGCCTGGGTGACACAGCGAGACTCTGTCTGAAAAAAAAAAAAAAACAACAAACAGGGCCTTATTCCTTCATCCTCTCTGTGCCACATGGGTTCCCAGAACTCGGGGCAGAGTGGCAGGAGACCACTTTCCCCCGCTAGTTCCCAGCTTCCCCTTCAGTAGAGTCAGCAAGGCTGATCAGAGATCTGGAGAGTCCCTCCTGGTTAAACCACCCATTCCCAGGGTCTCACTGTACCTCCCCCATCACCTGTCCATCCAAGAGCCAGGTTTCTATGCCCATCTCCATTCCCTTACCCGAGTGCAGTTGGCAGCCCGTGGCTCCAGGTCCTTGGGATCCACAAGGTGGCTCAGAAGACTGCTCTCCAGGTGGCCCCGGGGAGCGGTGGAATCAAATTGGGCATTGGGCTTATCTAACAGCAAGGGCAGGGCCACGGCAAATCCAGCCATATCCACAGGGAAGGGCCTGCTGGGCTCCCATGCTGTGTGGAAGCCCACTACCCGGCCGTCCTGTACCTGAGGGCCCTCGAATCGCAGGCCGCCCACCAGCCCCACAGGCCACACTGAGACACCACGGGTCCAGCGCATCTAACGGAGGTCGGGAGAGAAGAAACAGAGGGGTGGTCCGGGGAAGGGAGCAGCAGAAAGAGCCACCTGGCTCACTCTGCCCCACTGCTTCCAGCCCCTCACCCAGCAGCCAACGGCAACACTGCTAACCAAGGTAACGAATGAAGCTGGCCGCACCTGGTCTCTTGCCCATCCCCATCCTGGTGCTCACCTCCTCAAACAGCTCCCGGCTGTAGGTGTTGTCATCGTCAGCAAAGTAGACGACTCCTTGGGTCCCTGGTGGTGGTGGGTCCTTCTCCCCACCCACAGCACCCCCTCTGCCCCGGAGCCAGTCCAGGGCCTTGTTCCGCTGCTCGACACCACGGGGATGAACCCAGCCAGGCTCGCCCTCCCGAAGCCGCTGGGCTTTGGGCGTGAGGACCACCAGGTGTGTGAAGAGGAGGCCAGAGGCAGCCAGCAGCCCTGAGACCAGCGGGGTGGGACCCTCAGCATCCTCCACCAGCAGCCAATGCAGCCGGGGCACCAGGCTCAGTGTCTGGGACAGTCGTACCAGCTCTGCCTTCTGTACCAGCCTGCAGGGGAGAGATGCAGCACAAGGAAAAGGGGCAGGCACCATTTGCCTGCTCCAGCCAGGGCAGACAGCTTCTCCTGGGCCACTGCCTGCGTCTCCTGTGGCCCTTCCCAACCAATGCCTAAACTCCCTCTTTCTTGCCTGTCAACTTCATGCTAACACTCACCTGCCCTGTTCTTCTGGTCCATGTCCATCACCCACCTCAACTCCAGAGCTCAGGCTGTGGGAGACTATAAATTAAGGGCACAGGGCCGGGCATGGTGGCTCACACCTATAATAACACTTTGGGAGGCTGAGGCAGGTGAATTACCTGAGGTCTGGAGTTCCAGACCAGCCTGGCCAATATGGTGAAACCCCATCTCTACTAAAAAAATACAAAAATTTGCTGGGTGTAGTGGCACATGCCTGTAATCTCAGCTACTTGGGAGGCTGAGGCAGGAGAATCGCTTGAACCTGGAAGGAGGAGGTTGGAGTGAGCTGAGATCGCACCATTTCACTCCAGCCTCAGTGATAACAGCAAAACTCCATCTCAAAAAAAAAAAAAAAAGGCCGGGCATGTTGGCTCACGCCTATAATCCCAGCACTTTAGGAGGCCGAGGTGGGCGGATCACCTGAGGTTAGGAGTTCGAGACCAGCCTGCCCAACATGGCGAAGCCCCGTCTCTATTAAAAATACAAAAAATTACCCAGGCATGGTGGCAGTCACCTGTAATCCTAGCTACTCGGGAGGCTGAGGCAGAAGAATCGCTTGAACCCGGGAGGCGAAGGTTGCAGTGAGCCGAGATTGTGCCACTGCACTCCAGCCTGAGCGACAAGAGCGAAACTCTGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAACAAATTAAGGGCACAGGCTTTGGGATCAGGTAGATCTGGGTTTGAAATCCAGTTTTGTAACTTATTATGTGAGACAATTTGGGAAAATGGCTCAATCTCCCTAAGCCTCAGTTTCCTCAACTGTAAAATGGGAATAACAGTACTTTATAACAATGTTGTTTTAAAGATTAAATAAGAGCTGGGGATGGTGGCTCACACCTGTAATCCCAGCACTTTGGGAAGCTGAGGCAGGTGGATCATGAGGTCAGGAGATCGAGACCATCCTGGCTAACACGGTGAAACCCCATCTCTACTAAAAATATAAAAAATTAGCTGGGTGTGGTGGCGGGCACCTGTAGTCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCAGAGCTTGCAGTGAGCCAAGATCACGCCATTGCACCCAGCCTAGATGACAGAGCGAGACTCCATCTCAAAAAAAAAAAAAATACAAAAGTAAAATACAAAAAATTACTGGCCAGGCATGGTGGCTCACACCTGTAATCCCAGCACTTTGAGAGGCCGAAGCAGGTGGAACACGAAGTCAGGAGTTCCAGACCAGCCTGGCCAACATGGTGAAACCCCATCTCTACTAAAGATACAAAAAATTAGCCGGGTGTGGTGGCGCATGCTTGTAACCCCAGCTACTCGGGGGGCTGAGGCAGGAGAATTGCTTCAATCCGGGAGGTGGAGGTTGCAGTGAGCCGAGATCGTGCCATTGCACTCCAGCCTGGGCGACAGAGTGAGACTCCATCTCGGGAAAAAAAAAAAAAAAATTAGCCTGGTGTGGTGGTGCACGCCTGTAATCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATCGCTTGAACCCGGGAGGTGGAGGTTGCAGTGAGCCAAGATCACACCACTGCACTCCAGCCTGGGCAACAGAGCAAGACTCCAT
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GAAAGTGACATGAGAAGGCCTGGAGGCTGATTCTGATATAGACTCAATAAAGTTTTTGGATGGAAGCAATTGCTTTTTCTTGTCAAGGGGATGGGGGCCTGGGAGAACTGATTTCTGTCTGATGGAGCAGCTAGGACTCCAAAGTTTGGACCCTGGCTCGACCTGTGCAGCAACAGGAGCCCACATCTGTAAGGATCAGAAAGCAAGAACCCAATGTAAGAAGCAAAGGAAAACAAGAGGCCCCTCCAGGTTGAGATTCTTTATTCTGGAGGTAGGAAGGGGGTCAGCATGCTCAGGTGGGAAGGGTCCAGCCCAGCTCCTCCAGCCCCCCAGTGCATGCCCAGCCCCAATAAGTTACCCAGTTACTCAGCTGCCCTCCCTCCTGGGTCCATCTGTCCTTCTGTTCCACCCTAGACAGGGCCAACCTGACTCAACACAAGGGCTGCTTGTCCCCAGCCTGTGGGCAGTGCCACACGGCAGGCTAGGGGAGGGGTGAAGCAGCAGGACCATGCCCTGGGCCTGGAGGGGCAGAGGGGCCACTTCTGGCTCCAAGGGTCAGGACTTGGAAAACCACATCCTGGGCAGGCCTGGGGCCCAGTCCCACAAGGTCTGTGCCTGAAAAGAGGTGGTAGTTGGGGTGGGGCCGCCATCACACCTCAATTGCTGGGTCTGAGCCCCGGCCCTGCCGCTGCAGCTGCTCCTCCTGCTTCATCTTGGGCTTCTCTGTCCGAGTATGCCACACCAGTACCTGTGCCAGGAGGGATGCAGTGAGAGCCAGGCCCAGCTGCAGCCAGGCCTCTGGGTCCCCGAGCCTGGAATGGATTCTCTAACCCTATCGACATATACAGTATAGGCTTCAAAGTGTAAAGGGCAGGGTGGAGGAAGACTTAGTGCCTCTAAAACCGGGCCTTGGCCGGGCGCGTGGCTCACGCCTGTAACCCCAGCACTTTGGGAGGCCGAGGAAGGCGGATCACGAGGTCAGGAGATTGAGACCATCCTGGCTAACACCGTGAAACCCCGTCACTACTAAAAACACAAAAAAATTAGCCGGGCGTGGTAGCGGGTGCCTGTAGTCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATGGTGTGAACCCGGGAGGCGGAGCTTGCGCTAAGCCAAGATTGCGCTACTGCACTCCAGCCTGGGTGACACAGCGAGACTCTGTCTGAAAAAAAAAAAAAAACAACAAACAGGGCCTTATTCCTTCATCCTCTCTGTGCCACATGGGTTCCCAGAACTCGGGGCAGAGTGGCAGGAGACCACTTTCCCCCGCTAGTTCCCAGCTTCCCCTTCAGTAGAGTCAGCAAGGCTGATCAGAGATCTGGAGAGTCCCTCCTGGTTAAACCACCCATTCCCAGGGTCTCACTGTACCTCCCCCATCACCTGTCCATCCAAGAGCCAGGTTTCTATGCCCATCTCCATTCCCTTACCCGAGTGCAGTTGGCAGCCCGTGGCTCCAGGTCCTTGGGATCCACAAGGTGGCTCAGAAGACTGCTCTCCAGGTGGCCCCGGGGAGCGGTGGAATCAAATTGGGCATTGGGCTTATCTAACAGCAAGGGCAGGGCCACGGCAAATCCAGCCATATCCACAGGGAAGGGCCTGCTGGGCTCCCATGCTGTGTGGAAGCCCACTACCCGGCCGTCCTGTACCTGAGGGCCCTCGAATCGCAGGCCGCCCACCAGCCCCACAGGCCACACTGAGACACCACGGGTCCAGCGCATCTAACGGAGGTCGGGAGAGAAGAAACAGAGGGGTGGTCCGGGGAAGGGAGCAGCAGAAAGAGCCACCTGGCTCACTCTGCCCCACTGCTTCCAGCCCCTCACCCAGCAGCCAACGGCAACACTGCTAACCAAGGTAACGAATGAAGCTGGCCGCACCTGGTCTCTTGCCCATCCCCATCCTGGTGCTCACCTCCTCAAACAGCTCCCGGCTGTAGGTGTTGTCATCGTCAGCAAAGTAGACGACTCCTTGGGTCCCTGGTGGTGGTGGGTCCTTCTCCCCACCCACAGCACCCCCTCTGCCCCAGAGCCAGTCCAGGGCCTTGTTCCGCTGCTCGACACCACGGGGATGAACCCAGCCAGGCTCGCCCTCCCGAAGCCGCTGGGCTTTGGGCGTGAGGACCACCAGGTGTGTGAAGAGGAGGCCAGAGGCAGCCAGCAGCCCTGAGACCAGCGGGGTGGGACCCTCAGCATCCTCCACCAGCAGCCAATGCAGCCGGGGCACCAGGCTCAGTGTCTGGGACAGTCGTACCAGCTCTGCCTTCTGTACCAGCCTGCAGGGGAGAGATGCAGCACAAGGAAAAGGGGCAGGCACCATTTGCCTGCTCCAGCCAGGGCAGACAGCTTCTCCTGGGCCACTGCCTGCGTCTCCTGTGGCCCTTCCCAACCAATGCCTAAACTCCCTCTTTCTTGCCTGTCAACTTCATGCTAACACTCACCTGCCCTGTTCTTCTGGTCCATGTCCATCACCCACCTCAACTCCAGAGCTCAGGCTGTGGGAGACTATAAATTAAGGGCACAGGGCCGGGCATGGTGGCTCACACCTATAATAACACTTTGGGAGGCTGAGGCAGGTGAATTACCTGAGGTCTGGAGTTCCAGACCAGCCTGGCCAATATGGTGAAACCCCATCTCTACTAAAAAAATACAAAAATTTGCTGGGTGTAGTGGCACATGCCTGTAATCTCAGCTACTTGGGAGGCTGAGGCAGGAGAATCGCTTGAACCTGGAAGGAGGAGGTTGGAGTGAGCTGAGATCGCACCATTTCACTCCAGCCTCAGTGATAACAGCAAAACTCCATCTCAAAAAAAAAAAAAAAAGGCCGGGCATGTTGGCTCACGCCTATAATCCCAGCACTTTAGGAGGCCGAGGTGGGCGGATCACCTGAGGTTAGGAGTTCGAGACCAGCCTGCCCAACATGGCGAAGCCCCGTCTCTATTAAAAATACAAAAAATTACCCAGGCATGGTGGCAGTCACCTGTAATCCTAGCTACTCGGGAGGCTGAGGCAGAAGAATCGCTTGAACCCGGGAGGCGAAGGTTGCAGTGAGCCGAGATTGTGCCACTGCACTCCAGCCTGAGCGACAAGAGCGAAACTCTGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAACAAATTAAGGGCACAGGCTTTGGGATCAGGTAGATCTGGGTTTGAAATCCAGTTTTGTAACTTATTATGTGAGACAATTTGGGAAAATGGCTCAATCTCCCTAAGCCTCAGTTTCCTCAACTGTAAAATGGGAATAACAGTACTTTATAACAATGTTGTTTTAAAGATTAAATAAGAGCTGGGGATGGTGGCTCACACCTGTAATCCCAGCACTTTGGGAAGCTGAGGCAGGTGGATCATGAGGTCAGGAGATCGAGACCATCCTGGCTAACACGGTGAAACCCCATCTCTACTAAAAATATAAAAAATTAGCTGGGTGTGGTGGCGGGCACCTGTAGTCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCAGAGCTTGCAGTGAGCCAAGATCACGCCATTGCACCCAGCCTAGATGACAGAGCGAGACTCCATCTCAAAAAAAAAAAAAATACAAAAGTAAAATACAAAAAATTACTGGCCAGGCATGGTGGCTCACACCTGTAATCCCAGCACTTTGAGAGGCCGAAGCAGGTGGAACACGAAGTCAGGAGTTCCAGACCAGCCTGGCCAACATGGTGAAACCCCATCTCTACTAAAGATACAAAAAATTAGCCGGGTGTGGTGGCGCATGCTTGTAACCCCAGCTACTCGGGGGGCTGAGGCAGGAGAATTGCTTCAATCCGGGAGGTGGAGGTTGCAGTGAGCCGAGATCGTGCCATTGCACTCCAGCCTGGGCGACAGAGTGAGACTCCATCTCGGGAAAAAAAAAAAAAAAATTAGCCTGGTGTGGTGGTGCACGCCTGTAATCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATCGCTTGAACCCGGGAGGTGGAGGTTGCAGTGAGCCAAGATCACACCACTGCACTCCAGCCTGGGCAACAGAGCAAGACTCCAT
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Task1_train_15978
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Chromosome 11 houses a mutation in gene B3GAT3 (beta-1,3-glucuronyltransferase 3). Classify its clinical impact — is it pathogenic or benign, and what disease does it lead to if any?
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Pathogenic; Larsen-like syndrome, B3GAT3 type
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GGCTGATTCTGATATAGACTCAATAAAGTTTTTGGATGGAAGCAATTGCTTTTTCTTGTCAAGGGGATGGGGGCCTGGGAGAACTGATTTCTGTCTGATGGAGCAGCTAGGACTCCAAAGTTTGGACCCTGGCTCGACCTGTGCAGCAACAGGAGCCCACATCTGTAAGGATCAGAAAGCAAGAACCCAATGTAAGAAGCAAAGGAAAACAAGAGGCCCCTCCAGGTTGAGATTCTTTATTCTGGAGGTAGGAAGGGGGTCAGCATGCTCAGGTGGGAAGGGTCCAGCCCAGCTCCTCCAGCCCCCCAGTGCATGCCCAGCCCCAATAAGTTACCCAGTTACTCAGCTGCCCTCCCTCCTGGGTCCATCTGTCCTTCTGTTCCACCCTAGACAGGGCCAACCTGACTCAACACAAGGGCTGCTTGTCCCCAGCCTGTGGGCAGTGCCACACGGCAGGCTAGGGGAGGGGTGAAGCAGCAGGACCATGCCCTGGGCCTGGAGGGGCAGAGGGGCCACTTCTGGCTCCAAGGGTCAGGACTTGGAAAACCACATCCTGGGCAGGCCTGGGGCCCAGTCCCACAAGGTCTGTGCCTGAAAAGAGGTGGTAGTTGGGGTGGGGCCGCCATCACACCTCAATTGCTGGGTCTGAGCCCCGGCCCTGCCGCTGCAGCTGCTCCTCCTGCTTCATCTTGGGCTTCTCTGTCCGAGTATGCCACACCAGTACCTGTGCCAGGAGGGATGCAGTGAGAGCCAGGCCCAGCTGCAGCCAGGCCTCTGGGTCCCCGAGCCTGGAATGGATTCTCTAACCCTATCGACATATACAGTATAGGCTTCAAAGTGTAAAGGGCAGGGTGGAGGAAGACTTAGTGCCTCTAAAACCGGGCCTTGGCCGGGCGCGTGGCTCACGCCTGTAACCCCAGCACTTTGGGAGGCCGAGGAAGGCGGATCACGAGGTCAGGAGATTGAGACCATCCTGGCTAACACCGTGAAACCCCGTCACTACTAAAAACACAAAAAAATTAGCCGGGCGTGGTAGCGGGTGCCTGTAGTCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATGGTGTGAACCCGGGAGGCGGAGCTTGCGCTAAGCCAAGATTGCGCTACTGCACTCCAGCCTGGGTGACACAGCGAGACTCTGTCTGAAAAAAAAAAAAAAACAACAAACAGGGCCTTATTCCTTCATCCTCTCTGTGCCACATGGGTTCCCAGAACTCGGGGCAGAGTGGCAGGAGACCACTTTCCCCCGCTAGTTCCCAGCTTCCCCTTCAGTAGAGTCAGCAAGGCTGATCAGAGATCTGGAGAGTCCCTCCTGGTTAAACCACCCATTCCCAGGGTCTCACTGTACCTCCCCCATCACCTGTCCATCCAAGAGCCAGGTTTCTATGCCCATCTCCATTCCCTTACCCGAGTGCAGTTGGCAGCCCGTGGCTCCAGGTCCTTGGGATCCACAAGGTGGCTCAGAAGACTGCTCTCCAGGTGGCCCCGGGGAGCGGTGGAATCAAATTGGGCATTGGGCTTATCTAACAGCAAGGGCAGGGCCACGGCAAATCCAGCCATATCCACAGGGAAGGGCCTGCTGGGCTCCCATGCTGTGTGGAAGCCCACTACCCGGCCGTCCTGTACCTGAGGGCCCTCGAATCGCAGGCCGCCCACCAGCCCCACAGGCCACACTGAGACACCACGGGTCCAGCGCATCTAACGGAGGTCGGGAGAGAAGAAACAGAGGGGTGGTCCGGGGAAGGGAGCAGCAGAAAGAGCCACCTGGCTCACTCTGCCCCACTGCTTCCAGCCCCTCACCCAGCAGCCAACGGCAACACTGCTAACCAAGGTAACGAATGAAGCTGGCCGCACCTGGTCTCTTGCCCATCCCCATCCTGGTGCTCACCTCCTCAAACAGCTCCCGGCTGTAGGTGTTGTCATCGTCAGCAAAGTAGACGACTCCTTGGGTCCCTGGTGGTGGTGGGTCCTTCTCCCCACCCACAGCACCCCCTCTGCCCCGGAGCCAGTCCAGGGCCTTGTTCCGCTGCTCGACACCACGGGGATGAACCCAGCCAGGCTCGCCCTCCCGAAGCCGCTGGGCTTTGGGCGTGAGGACCACCAGGTGTGTGAAGAGGAGGCCAGAGGCAGCCAGCAGCCCTGAGACCAGCGGGGTGGGACCCTCAGCATCCTCCACCAGCAGCCAATGCAGCCGGGGCACCAGGCTCAGTGTCTGGGACAGTCGTACCAGCTCTGCCTTCTGTACCAGCCTGCAGGGGAGAGATGCAGCACAAGGAAAAGGGGCAGGCACCATTTGCCTGCTCCAGCCAGGGCAGACAGCTTCTCCTGGGCCACTGCCTGCGTCTCCTGTGGCCCTTCCCAACCAATGCCTAAACTCCCTCTTTCTTGCCTGTCAACTTCATGCTAACACTCACCTGCCCTGTTCTTCTGGTCCATGTCCATCACCCACCTCAACTCCAGAGCTCAGGCTGTGGGAGACTATAAATTAAGGGCACAGGGCCGGGCATGGTGGCTCACACCTATAATAACACTTTGGGAGGCTGAGGCAGGTGAATTACCTGAGGTCTGGAGTTCCAGACCAGCCTGGCCAATATGGTGAAACCCCATCTCTACTAAAAAAATACAAAAATTTGCTGGGTGTAGTGGCACATGCCTGTAATCTCAGCTACTTGGGAGGCTGAGGCAGGAGAATCGCTTGAACCTGGAAGGAGGAGGTTGGAGTGAGCTGAGATCGCACCATTTCACTCCAGCCTCAGTGATAACAGCAAAACTCCATCTCAAAAAAAAAAAAAAAAGGCCGGGCATGTTGGCTCACGCCTATAATCCCAGCACTTTAGGAGGCCGAGGTGGGCGGATCACCTGAGGTTAGGAGTTCGAGACCAGCCTGCCCAACATGGCGAAGCCCCGTCTCTATTAAAAATACAAAAAATTACCCAGGCATGGTGGCAGTCACCTGTAATCCTAGCTACTCGGGAGGCTGAGGCAGAAGAATCGCTTGAACCCGGGAGGCGAAGGTTGCAGTGAGCCGAGATTGTGCCACTGCACTCCAGCCTGAGCGACAAGAGCGAAACTCTGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAACAAATTAAGGGCACAGGCTTTGGGATCAGGTAGATCTGGGTTTGAAATCCAGTTTTGTAACTTATTATGTGAGACAATTTGGGAAAATGGCTCAATCTCCCTAAGCCTCAGTTTCCTCAACTGTAAAATGGGAATAACAGTACTTTATAACAATGTTGTTTTAAAGATTAAATAAGAGCTGGGGATGGTGGCTCACACCTGTAATCCCAGCACTTTGGGAAGCTGAGGCAGGTGGATCATGAGGTCAGGAGATCGAGACCATCCTGGCTAACACGGTGAAACCCCATCTCTACTAAAAATATAAAAAATTAGCTGGGTGTGGTGGCGGGCACCTGTAGTCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCAGAGCTTGCAGTGAGCCAAGATCACGCCATTGCACCCAGCCTAGATGACAGAGCGAGACTCCATCTCAAAAAAAAAAAAAATACAAAAGTAAAATACAAAAAATTACTGGCCAGGCATGGTGGCTCACACCTGTAATCCCAGCACTTTGAGAGGCCGAAGCAGGTGGAACACGAAGTCAGGAGTTCCAGACCAGCCTGGCCAACATGGTGAAACCCCATCTCTACTAAAGATACAAAAAATTAGCCGGGTGTGGTGGCGCATGCTTGTAACCCCAGCTACTCGGGGGGCTGAGGCAGGAGAATTGCTTCAATCCGGGAGGTGGAGGTTGCAGTGAGCCGAGATCGTGCCATTGCACTCCAGCCTGGGCGACAGAGTGAGACTCCATCTCGGGAAAAAAAAAAAAAAAATTAGCCTGGTGTGGTGGTGCACGCCTGTAATCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATCGCTTGAACCCGGGAGGTGGAGGTTGCAGTGAGCCAAGATCACACCACTGCACTCCAGCCTGGGCAACAGAGCAAGACTCCATCTCGGTGTTGCGGGGAGGCGGGGG
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GGCTGATTCTGATATAGACTCAATAAAGTTTTTGGATGGAAGCAATTGCTTTTTCTTGTCAAGGGGATGGGGGCCTGGGAGAACTGATTTCTGTCTGATGGAGCAGCTAGGACTCCAAAGTTTGGACCCTGGCTCGACCTGTGCAGCAACAGGAGCCCACATCTGTAAGGATCAGAAAGCAAGAACCCAATGTAAGAAGCAAAGGAAAACAAGAGGCCCCTCCAGGTTGAGATTCTTTATTCTGGAGGTAGGAAGGGGGTCAGCATGCTCAGGTGGGAAGGGTCCAGCCCAGCTCCTCCAGCCCCCCAGTGCATGCCCAGCCCCAATAAGTTACCCAGTTACTCAGCTGCCCTCCCTCCTGGGTCCATCTGTCCTTCTGTTCCACCCTAGACAGGGCCAACCTGACTCAACACAAGGGCTGCTTGTCCCCAGCCTGTGGGCAGTGCCACACGGCAGGCTAGGGGAGGGGTGAAGCAGCAGGACCATGCCCTGGGCCTGGAGGGGCAGAGGGGCCACTTCTGGCTCCAAGGGTCAGGACTTGGAAAACCACATCCTGGGCAGGCCTGGGGCCCAGTCCCACAAGGTCTGTGCCTGAAAAGAGGTGGTAGTTGGGGTGGGGCCGCCATCACACCTCAATTGCTGGGTCTGAGCCCCGGCCCTGCCGCTGCAGCTGCTCCTCCTGCTTCATCTTGGGCTTCTCTGTCCGAGTATGCCACACCAGTACCTGTGCCAGGAGGGATGCAGTGAGAGCCAGGCCCAGCTGCAGCCAGGCCTCTGGGTCCCCGAGCCTGGAATGGATTCTCTAACCCTATCGACATATACAGTATAGGCTTCAAAGTGTAAAGGGCAGGGTGGAGGAAGACTTAGTGCCTCTAAAACCGGGCCTTGGCCGGGCGCGTGGCTCACGCCTGTAACCCCAGCACTTTGGGAGGCCGAGGAAGGCGGATCACGAGGTCAGGAGATTGAGACCATCCTGGCTAACACCGTGAAACCCCGTCACTACTAAAAACACAAAAAAATTAGCCGGGCGTGGTAGCGGGTGCCTGTAGTCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATGGTGTGAACCCGGGAGGCGGAGCTTGCGCTAAGCCAAGATTGCGCTACTGCACTCCAGCCTGGGTGACACAGCGAGACTCTGTCTGAAAAAAAAAAAAAAACAACAAACAGGGCCTTATTCCTTCATCCTCTCTGTGCCACATGGGTTCCCAGAACTCGGGGCAGAGTGGCAGGAGACCACTTTCCCCCGCTAGTTCCCAGCTTCCCCTTCAGTAGAGTCAGCAAGGCTGATCAGAGATCTGGAGAGTCCCTCCTGGTTAAACCACCCATTCCCAGGGTCTCACTGTACCTCCCCCATCACCTGTCCATCCAAGAGCCAGGTTTCTATGCCCATCTCCATTCCCTTACCCGAGTGCAGTTGGCAGCCCGTGGCTCCAGGTCCTTGGGATCCACAAGGTGGCTCAGAAGACTGCTCTCCAGGTGGCCCCGGGGAGCGGTGGAATCAAATTGGGCATTGGGCTTATCTAACAGCAAGGGCAGGGCCACGGCAAATCCAGCCATATCCACAGGGAAGGGCCTGCTGGGCTCCCATGCTGTGTGGAAGCCCACTACCCGGCCGTCCTGTACCTGAGGGCCCTCGAATCGCAGGCCGCCCACCAGCCCCACAGGCCACACTGAGACACCACGGGTCCAGCGCATCTAACGGAGGTCGGGAGAGAAGAAACAGAGGGGTGGTCCGGGGAAGGGAGCAGCAGAAAGAGCCACCTGGCTCACTCTGCCCCACTGCTTCCAGCCCCTCACCCAGCAGCCAACGGCAACACTGCTAACCAAGGTAACGAATGAAGCTGGCCGCACCTGGTCTCTTGCCCATCCCCATCCTGGTGCTCACCTCCTCAAACAGCTCCCGGCTGTAGGTGTTGTCATCGTCAGCAAAGTAGACGACTCCTTGGGTCCCTGGTGGTGGTGGGTCCTTCTCCCCACCCACAGCACCCCCTCTGCCCCGGAGCCAGTCCAGGGCCTTGTTCCACTGCTCGACACCACGGGGATGAACCCAGCCAGGCTCGCCCTCCCGAAGCCGCTGGGCTTTGGGCGTGAGGACCACCAGGTGTGTGAAGAGGAGGCCAGAGGCAGCCAGCAGCCCTGAGACCAGCGGGGTGGGACCCTCAGCATCCTCCACCAGCAGCCAATGCAGCCGGGGCACCAGGCTCAGTGTCTGGGACAGTCGTACCAGCTCTGCCTTCTGTACCAGCCTGCAGGGGAGAGATGCAGCACAAGGAAAAGGGGCAGGCACCATTTGCCTGCTCCAGCCAGGGCAGACAGCTTCTCCTGGGCCACTGCCTGCGTCTCCTGTGGCCCTTCCCAACCAATGCCTAAACTCCCTCTTTCTTGCCTGTCAACTTCATGCTAACACTCACCTGCCCTGTTCTTCTGGTCCATGTCCATCACCCACCTCAACTCCAGAGCTCAGGCTGTGGGAGACTATAAATTAAGGGCACAGGGCCGGGCATGGTGGCTCACACCTATAATAACACTTTGGGAGGCTGAGGCAGGTGAATTACCTGAGGTCTGGAGTTCCAGACCAGCCTGGCCAATATGGTGAAACCCCATCTCTACTAAAAAAATACAAAAATTTGCTGGGTGTAGTGGCACATGCCTGTAATCTCAGCTACTTGGGAGGCTGAGGCAGGAGAATCGCTTGAACCTGGAAGGAGGAGGTTGGAGTGAGCTGAGATCGCACCATTTCACTCCAGCCTCAGTGATAACAGCAAAACTCCATCTCAAAAAAAAAAAAAAAAGGCCGGGCATGTTGGCTCACGCCTATAATCCCAGCACTTTAGGAGGCCGAGGTGGGCGGATCACCTGAGGTTAGGAGTTCGAGACCAGCCTGCCCAACATGGCGAAGCCCCGTCTCTATTAAAAATACAAAAAATTACCCAGGCATGGTGGCAGTCACCTGTAATCCTAGCTACTCGGGAGGCTGAGGCAGAAGAATCGCTTGAACCCGGGAGGCGAAGGTTGCAGTGAGCCGAGATTGTGCCACTGCACTCCAGCCTGAGCGACAAGAGCGAAACTCTGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAACAAATTAAGGGCACAGGCTTTGGGATCAGGTAGATCTGGGTTTGAAATCCAGTTTTGTAACTTATTATGTGAGACAATTTGGGAAAATGGCTCAATCTCCCTAAGCCTCAGTTTCCTCAACTGTAAAATGGGAATAACAGTACTTTATAACAATGTTGTTTTAAAGATTAAATAAGAGCTGGGGATGGTGGCTCACACCTGTAATCCCAGCACTTTGGGAAGCTGAGGCAGGTGGATCATGAGGTCAGGAGATCGAGACCATCCTGGCTAACACGGTGAAACCCCATCTCTACTAAAAATATAAAAAATTAGCTGGGTGTGGTGGCGGGCACCTGTAGTCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCAGAGCTTGCAGTGAGCCAAGATCACGCCATTGCACCCAGCCTAGATGACAGAGCGAGACTCCATCTCAAAAAAAAAAAAAATACAAAAGTAAAATACAAAAAATTACTGGCCAGGCATGGTGGCTCACACCTGTAATCCCAGCACTTTGAGAGGCCGAAGCAGGTGGAACACGAAGTCAGGAGTTCCAGACCAGCCTGGCCAACATGGTGAAACCCCATCTCTACTAAAGATACAAAAAATTAGCCGGGTGTGGTGGCGCATGCTTGTAACCCCAGCTACTCGGGGGGCTGAGGCAGGAGAATTGCTTCAATCCGGGAGGTGGAGGTTGCAGTGAGCCGAGATCGTGCCATTGCACTCCAGCCTGGGCGACAGAGTGAGACTCCATCTCGGGAAAAAAAAAAAAAAAATTAGCCTGGTGTGGTGGTGCACGCCTGTAATCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATCGCTTGAACCCGGGAGGTGGAGGTTGCAGTGAGCCAAGATCACACCACTGCACTCCAGCCTGGGCAACAGAGCAAGACTCCATCTCGGTGTTGCGGGGAGGCGGGGG
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Task1_train_15979
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This is a variant in B3GAT3 (beta-1,3-glucuronyltransferase 3), located on Chromosome 11. Is this mutation a likely cause of disease or not?
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Pathogenic; MULTIPLE JOINT DISLOCATIONS, SHORT STATURE, AND CRANIOFACIAL DYSMORPHISM WITHOUT CONGENITAL HEART DEFECTS
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GGGGATGGGGGCCTGGGAGAACTGATTTCTGTCTGATGGAGCAGCTAGGACTCCAAAGTTTGGACCCTGGCTCGACCTGTGCAGCAACAGGAGCCCACATCTGTAAGGATCAGAAAGCAAGAACCCAATGTAAGAAGCAAAGGAAAACAAGAGGCCCCTCCAGGTTGAGATTCTTTATTCTGGAGGTAGGAAGGGGGTCAGCATGCTCAGGTGGGAAGGGTCCAGCCCAGCTCCTCCAGCCCCCCAGTGCATGCCCAGCCCCAATAAGTTACCCAGTTACTCAGCTGCCCTCCCTCCTGGGTCCATCTGTCCTTCTGTTCCACCCTAGACAGGGCCAACCTGACTCAACACAAGGGCTGCTTGTCCCCAGCCTGTGGGCAGTGCCACACGGCAGGCTAGGGGAGGGGTGAAGCAGCAGGACCATGCCCTGGGCCTGGAGGGGCAGAGGGGCCACTTCTGGCTCCAAGGGTCAGGACTTGGAAAACCACATCCTGGGCAGGCCTGGGGCCCAGTCCCACAAGGTCTGTGCCTGAAAAGAGGTGGTAGTTGGGGTGGGGCCGCCATCACACCTCAATTGCTGGGTCTGAGCCCCGGCCCTGCCGCTGCAGCTGCTCCTCCTGCTTCATCTTGGGCTTCTCTGTCCGAGTATGCCACACCAGTACCTGTGCCAGGAGGGATGCAGTGAGAGCCAGGCCCAGCTGCAGCCAGGCCTCTGGGTCCCCGAGCCTGGAATGGATTCTCTAACCCTATCGACATATACAGTATAGGCTTCAAAGTGTAAAGGGCAGGGTGGAGGAAGACTTAGTGCCTCTAAAACCGGGCCTTGGCCGGGCGCGTGGCTCACGCCTGTAACCCCAGCACTTTGGGAGGCCGAGGAAGGCGGATCACGAGGTCAGGAGATTGAGACCATCCTGGCTAACACCGTGAAACCCCGTCACTACTAAAAACACAAAAAAATTAGCCGGGCGTGGTAGCGGGTGCCTGTAGTCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATGGTGTGAACCCGGGAGGCGGAGCTTGCGCTAAGCCAAGATTGCGCTACTGCACTCCAGCCTGGGTGACACAGCGAGACTCTGTCTGAAAAAAAAAAAAAAACAACAAACAGGGCCTTATTCCTTCATCCTCTCTGTGCCACATGGGTTCCCAGAACTCGGGGCAGAGTGGCAGGAGACCACTTTCCCCCGCTAGTTCCCAGCTTCCCCTTCAGTAGAGTCAGCAAGGCTGATCAGAGATCTGGAGAGTCCCTCCTGGTTAAACCACCCATTCCCAGGGTCTCACTGTACCTCCCCCATCACCTGTCCATCCAAGAGCCAGGTTTCTATGCCCATCTCCATTCCCTTACCCGAGTGCAGTTGGCAGCCCGTGGCTCCAGGTCCTTGGGATCCACAAGGTGGCTCAGAAGACTGCTCTCCAGGTGGCCCCGGGGAGCGGTGGAATCAAATTGGGCATTGGGCTTATCTAACAGCAAGGGCAGGGCCACGGCAAATCCAGCCATATCCACAGGGAAGGGCCTGCTGGGCTCCCATGCTGTGTGGAAGCCCACTACCCGGCCGTCCTGTACCTGAGGGCCCTCGAATCGCAGGCCGCCCACCAGCCCCACAGGCCACACTGAGACACCACGGGTCCAGCGCATCTAACGGAGGTCGGGAGAGAAGAAACAGAGGGGTGGTCCGGGGAAGGGAGCAGCAGAAAGAGCCACCTGGCTCACTCTGCCCCACTGCTTCCAGCCCCTCACCCAGCAGCCAACGGCAACACTGCTAACCAAGGTAACGAATGAAGCTGGCCGCACCTGGTCTCTTGCCCATCCCCATCCTGGTGCTCACCTCCTCAAACAGCTCCCGGCTGTAGGTGTTGTCATCGTCAGCAAAGTAGACGACTCCTTGGGTCCCTGGTGGTGGTGGGTCCTTCTCCCCACCCACAGCACCCCCTCTGCCCCGGAGCCAGTCCAGGGCCTTGTTCCGCTGCTCGACACCACGGGGATGAACCCAGCCAGGCTCGCCCTCCCGAAGCCGCTGGGCTTTGGGCGTGAGGACCACCAGGTGTGTGAAGAGGAGGCCAGAGGCAGCCAGCAGCCCTGAGACCAGCGGGGTGGGACCCTCAGCATCCTCCACCAGCAGCCAATGCAGCCGGGGCACCAGGCTCAGTGTCTGGGACAGTCGTACCAGCTCTGCCTTCTGTACCAGCCTGCAGGGGAGAGATGCAGCACAAGGAAAAGGGGCAGGCACCATTTGCCTGCTCCAGCCAGGGCAGACAGCTTCTCCTGGGCCACTGCCTGCGTCTCCTGTGGCCCTTCCCAACCAATGCCTAAACTCCCTCTTTCTTGCCTGTCAACTTCATGCTAACACTCACCTGCCCTGTTCTTCTGGTCCATGTCCATCACCCACCTCAACTCCAGAGCTCAGGCTGTGGGAGACTATAAATTAAGGGCACAGGGCCGGGCATGGTGGCTCACACCTATAATAACACTTTGGGAGGCTGAGGCAGGTGAATTACCTGAGGTCTGGAGTTCCAGACCAGCCTGGCCAATATGGTGAAACCCCATCTCTACTAAAAAAATACAAAAATTTGCTGGGTGTAGTGGCACATGCCTGTAATCTCAGCTACTTGGGAGGCTGAGGCAGGAGAATCGCTTGAACCTGGAAGGAGGAGGTTGGAGTGAGCTGAGATCGCACCATTTCACTCCAGCCTCAGTGATAACAGCAAAACTCCATCTCAAAAAAAAAAAAAAAAGGCCGGGCATGTTGGCTCACGCCTATAATCCCAGCACTTTAGGAGGCCGAGGTGGGCGGATCACCTGAGGTTAGGAGTTCGAGACCAGCCTGCCCAACATGGCGAAGCCCCGTCTCTATTAAAAATACAAAAAATTACCCAGGCATGGTGGCAGTCACCTGTAATCCTAGCTACTCGGGAGGCTGAGGCAGAAGAATCGCTTGAACCCGGGAGGCGAAGGTTGCAGTGAGCCGAGATTGTGCCACTGCACTCCAGCCTGAGCGACAAGAGCGAAACTCTGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAACAAATTAAGGGCACAGGCTTTGGGATCAGGTAGATCTGGGTTTGAAATCCAGTTTTGTAACTTATTATGTGAGACAATTTGGGAAAATGGCTCAATCTCCCTAAGCCTCAGTTTCCTCAACTGTAAAATGGGAATAACAGTACTTTATAACAATGTTGTTTTAAAGATTAAATAAGAGCTGGGGATGGTGGCTCACACCTGTAATCCCAGCACTTTGGGAAGCTGAGGCAGGTGGATCATGAGGTCAGGAGATCGAGACCATCCTGGCTAACACGGTGAAACCCCATCTCTACTAAAAATATAAAAAATTAGCTGGGTGTGGTGGCGGGCACCTGTAGTCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCAGAGCTTGCAGTGAGCCAAGATCACGCCATTGCACCCAGCCTAGATGACAGAGCGAGACTCCATCTCAAAAAAAAAAAAAATACAAAAGTAAAATACAAAAAATTACTGGCCAGGCATGGTGGCTCACACCTGTAATCCCAGCACTTTGAGAGGCCGAAGCAGGTGGAACACGAAGTCAGGAGTTCCAGACCAGCCTGGCCAACATGGTGAAACCCCATCTCTACTAAAGATACAAAAAATTAGCCGGGTGTGGTGGCGCATGCTTGTAACCCCAGCTACTCGGGGGGCTGAGGCAGGAGAATTGCTTCAATCCGGGAGGTGGAGGTTGCAGTGAGCCGAGATCGTGCCATTGCACTCCAGCCTGGGCGACAGAGTGAGACTCCATCTCGGGAAAAAAAAAAAAAAAATTAGCCTGGTGTGGTGGTGCACGCCTGTAATCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATCGCTTGAACCCGGGAGGTGGAGGTTGCAGTGAGCCAAGATCACACCACTGCACTCCAGCCTGGGCAACAGAGCAAGACTCCATCTCGGTGTTGCGGGGAGGCGGGGGGAAGAAAAAAAAAAAAGGAACAAACCAGGAATGTGGAACGTGGGGCTTGGCCTCTTCTGTAC
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GGGGATGGGGGCCTGGGAGAACTGATTTCTGTCTGATGGAGCAGCTAGGACTCCAAAGTTTGGACCCTGGCTCGACCTGTGCAGCAACAGGAGCCCACATCTGTAAGGATCAGAAAGCAAGAACCCAATGTAAGAAGCAAAGGAAAACAAGAGGCCCCTCCAGGTTGAGATTCTTTATTCTGGAGGTAGGAAGGGGGTCAGCATGCTCAGGTGGGAAGGGTCCAGCCCAGCTCCTCCAGCCCCCCAGTGCATGCCCAGCCCCAATAAGTTACCCAGTTACTCAGCTGCCCTCCCTCCTGGGTCCATCTGTCCTTCTGTTCCACCCTAGACAGGGCCAACCTGACTCAACACAAGGGCTGCTTGTCCCCAGCCTGTGGGCAGTGCCACACGGCAGGCTAGGGGAGGGGTGAAGCAGCAGGACCATGCCCTGGGCCTGGAGGGGCAGAGGGGCCACTTCTGGCTCCAAGGGTCAGGACTTGGAAAACCACATCCTGGGCAGGCCTGGGGCCCAGTCCCACAAGGTCTGTGCCTGAAAAGAGGTGGTAGTTGGGGTGGGGCCGCCATCACACCTCAATTGCTGGGTCTGAGCCCCGGCCCTGCCGCTGCAGCTGCTCCTCCTGCTTCATCTTGGGCTTCTCTGTCCGAGTATGCCACACCAGTACCTGTGCCAGGAGGGATGCAGTGAGAGCCAGGCCCAGCTGCAGCCAGGCCTCTGGGTCCCCGAGCCTGGAATGGATTCTCTAACCCTATCGACATATACAGTATAGGCTTCAAAGTGTAAAGGGCAGGGTGGAGGAAGACTTAGTGCCTCTAAAACCGGGCCTTGGCCGGGCGCGTGGCTCACGCCTGTAACCCCAGCACTTTGGGAGGCCGAGGAAGGCGGATCACGAGGTCAGGAGATTGAGACCATCCTGGCTAACACCGTGAAACCCCGTCACTACTAAAAACACAAAAAAATTAGCCGGGCGTGGTAGCGGGTGCCTGTAGTCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATGGTGTGAACCCGGGAGGCGGAGCTTGCGCTAAGCCAAGATTGCGCTACTGCACTCCAGCCTGGGTGACACAGCGAGACTCTGTCTGAAAAAAAAAAAAAAACAACAAACAGGGCCTTATTCCTTCATCCTCTCTGTGCCACATGGGTTCCCAGAACTCGGGGCAGAGTGGCAGGAGACCACTTTCCCCCGCTAGTTCCCAGCTTCCCCTTCAGTAGAGTCAGCAAGGCTGATCAGAGATCTGGAGAGTCCCTCCTGGTTAAACCACCCATTCCCAGGGTCTCACTGTACCTCCCCCATCACCTGTCCATCCAAGAGCCAGGTTTCTATGCCCATCTCCATTCCCTTACCCGAGTGCAGTTGGCAGCCCGTGGCTCCAGGTCCTTGGGATCCACAAGGTGGCTCAGAAGACTGCTCTCCAGGTGGCCCCGGGGAGCGGTGGAATCAAATTGGGCATTGGGCTTATCTAACAGCAAGGGCAGGGCCACGGCAAATCCAGCCATATCCACAGGGAAGGGCCTGCTGGGCTCCCATGCTGTGTGGAAGCCCACTACCCGGCCGTCCTGTACCTGAGGGCCCTCGAATCGCAGGCCGCCCACCAGCCCCACAGGCCACACTGAGACACCACGGGTCCAGCGCATCTAACGGAGGTCGGGAGAGAAGAAACAGAGGGGTGGTCCGGGGAAGGGAGCAGCAGAAAGAGCCACCTGGCTCACTCTGCCCCACTGCTTCCAGCCCCTCACCCAGCAGCCAACGGCAACACTGCTAACCAAGGTAACGAATGAAGCTGGCCGCACCTGGTCTCTTGCCCATCCCCATCCTGGTGCTCACCTCCTCAAACAGCTCCCGGCTGTAGGTGTTGTCATCGTCAGCAAAGTAGACGACTCCTTGGGTCCCTGGTGGTGGTGGGTCCTTCTCCCCACCCACAGCACCCCCTCTGCCCCGGAGCCAGTCCAGGGCCTTGTTCCGCTGCTCGACACCACGGGGATGAACCCAGCCAGGCTCGCCCTCCCGAAGCCGCTGGGCTTTGAGCGTGAGGACCACCAGGTGTGTGAAGAGGAGGCCAGAGGCAGCCAGCAGCCCTGAGACCAGCGGGGTGGGACCCTCAGCATCCTCCACCAGCAGCCAATGCAGCCGGGGCACCAGGCTCAGTGTCTGGGACAGTCGTACCAGCTCTGCCTTCTGTACCAGCCTGCAGGGGAGAGATGCAGCACAAGGAAAAGGGGCAGGCACCATTTGCCTGCTCCAGCCAGGGCAGACAGCTTCTCCTGGGCCACTGCCTGCGTCTCCTGTGGCCCTTCCCAACCAATGCCTAAACTCCCTCTTTCTTGCCTGTCAACTTCATGCTAACACTCACCTGCCCTGTTCTTCTGGTCCATGTCCATCACCCACCTCAACTCCAGAGCTCAGGCTGTGGGAGACTATAAATTAAGGGCACAGGGCCGGGCATGGTGGCTCACACCTATAATAACACTTTGGGAGGCTGAGGCAGGTGAATTACCTGAGGTCTGGAGTTCCAGACCAGCCTGGCCAATATGGTGAAACCCCATCTCTACTAAAAAAATACAAAAATTTGCTGGGTGTAGTGGCACATGCCTGTAATCTCAGCTACTTGGGAGGCTGAGGCAGGAGAATCGCTTGAACCTGGAAGGAGGAGGTTGGAGTGAGCTGAGATCGCACCATTTCACTCCAGCCTCAGTGATAACAGCAAAACTCCATCTCAAAAAAAAAAAAAAAAGGCCGGGCATGTTGGCTCACGCCTATAATCCCAGCACTTTAGGAGGCCGAGGTGGGCGGATCACCTGAGGTTAGGAGTTCGAGACCAGCCTGCCCAACATGGCGAAGCCCCGTCTCTATTAAAAATACAAAAAATTACCCAGGCATGGTGGCAGTCACCTGTAATCCTAGCTACTCGGGAGGCTGAGGCAGAAGAATCGCTTGAACCCGGGAGGCGAAGGTTGCAGTGAGCCGAGATTGTGCCACTGCACTCCAGCCTGAGCGACAAGAGCGAAACTCTGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAACAAATTAAGGGCACAGGCTTTGGGATCAGGTAGATCTGGGTTTGAAATCCAGTTTTGTAACTTATTATGTGAGACAATTTGGGAAAATGGCTCAATCTCCCTAAGCCTCAGTTTCCTCAACTGTAAAATGGGAATAACAGTACTTTATAACAATGTTGTTTTAAAGATTAAATAAGAGCTGGGGATGGTGGCTCACACCTGTAATCCCAGCACTTTGGGAAGCTGAGGCAGGTGGATCATGAGGTCAGGAGATCGAGACCATCCTGGCTAACACGGTGAAACCCCATCTCTACTAAAAATATAAAAAATTAGCTGGGTGTGGTGGCGGGCACCTGTAGTCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCAGAGCTTGCAGTGAGCCAAGATCACGCCATTGCACCCAGCCTAGATGACAGAGCGAGACTCCATCTCAAAAAAAAAAAAAATACAAAAGTAAAATACAAAAAATTACTGGCCAGGCATGGTGGCTCACACCTGTAATCCCAGCACTTTGAGAGGCCGAAGCAGGTGGAACACGAAGTCAGGAGTTCCAGACCAGCCTGGCCAACATGGTGAAACCCCATCTCTACTAAAGATACAAAAAATTAGCCGGGTGTGGTGGCGCATGCTTGTAACCCCAGCTACTCGGGGGGCTGAGGCAGGAGAATTGCTTCAATCCGGGAGGTGGAGGTTGCAGTGAGCCGAGATCGTGCCATTGCACTCCAGCCTGGGCGACAGAGTGAGACTCCATCTCGGGAAAAAAAAAAAAAAAATTAGCCTGGTGTGGTGGTGCACGCCTGTAATCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATCGCTTGAACCCGGGAGGTGGAGGTTGCAGTGAGCCAAGATCACACCACTGCACTCCAGCCTGGGCAACAGAGCAAGACTCCATCTCGGTGTTGCGGGGAGGCGGGGGGAAGAAAAAAAAAAAAGGAACAAACCAGGAATGTGGAACGTGGGGCTTGGCCTCTTCTGTAC
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Task1_train_15980
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A variant was discovered on Chromosome 11, affecting B3GAT3 (beta-1,3-glucuronyltransferase 3). What is its functional impact — neutral or pathogenic? State the disease if pathogenic.
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Pathogenic; Larsen-like syndrome, B3GAT3 type
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GACCATCCTGGCTAACACGGTGAAACCCCATCTCTACTAAAAATATAAAAAATTAGCTGGGTGTGGTGGCGGGCACCTGTAGTCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCAGAGCTTGCAGTGAGCCAAGATCACGCCATTGCACCCAGCCTAGATGACAGAGCGAGACTCCATCTCAAAAAAAAAAAAAATACAAAAGTAAAATACAAAAAATTACTGGCCAGGCATGGTGGCTCACACCTGTAATCCCAGCACTTTGAGAGGCCGAAGCAGGTGGAACACGAAGTCAGGAGTTCCAGACCAGCCTGGCCAACATGGTGAAACCCCATCTCTACTAAAGATACAAAAAATTAGCCGGGTGTGGTGGCGCATGCTTGTAACCCCAGCTACTCGGGGGGCTGAGGCAGGAGAATTGCTTCAATCCGGGAGGTGGAGGTTGCAGTGAGCCGAGATCGTGCCATTGCACTCCAGCCTGGGCGACAGAGTGAGACTCCATCTCGGGAAAAAAAAAAAAAAAATTAGCCTGGTGTGGTGGTGCACGCCTGTAATCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATCGCTTGAACCCGGGAGGTGGAGGTTGCAGTGAGCCAAGATCACACCACTGCACTCCAGCCTGGGCAACAGAGCAAGACTCCATCTCGGTGTTGCGGGGAGGCGGGGGGAAGAAAAAAAAAAAAGGAACAAACCAGGAATGTGGAACGTGGGGCTTGGCCTCTTCTGTACTTCTTTATCCTTCAGATCTACCTGCCTGTCCCAGGGCTGGTTGTGTGTGCATGTCGCAGGTGGGGTCTAGAGCTTCCTATGCGTGAATGGGACAGCCATCTGATTCCCAGAAGATGTATTAACACCCTTATGGCTACAGATCCAAAACCACATTCCCCAATTGGTTTTATTAGTAAAACCAATTACATTTGATTTAAAACAAAAGCAAATGTAAATCACTAAATACAGTGCCTGCTAGAGAGTAAACACACTGTAAGTAACAGCTGGTATAACTATTTCTGGACCCTAGTATGACTATCAGGCCAAGCACTTTCAACTTTTTTTTTTTTGAAATGGGCTCTCTCTGTCGCCCAGGCTGCATGATCTCCACTCACTGCAACCTCCGCCGCCCAGGATCAAGCAATCTTCCCACCTCAGCCTCCAGAGTAGCTGAGATTACAGGCATGCACCATCACGCCTAGCTAACTTTTTTTTTTTTTTTTTTTTTTTTTCAGAGACAAGAGTTTCACCATGTTGCCCAGGCTGGTCTCAAACTCCTGAGCTCAGGCGATCCGCCAGCCTCGGGCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACTGCGCCCAGACAAGCCCTTTCAACTTTAATCAGGGGGTTTTAACTTTCTTGCCAAACGGTCCCTAAGGAGAGAGAGTTAATTCACTGCCAAGCTCAAAATTTCTTTGAAATGTTATTGTTCTATCTTATAATTTGGTAGAAATTTTGTATTTTCCTTCTAGAAAAAGAACTATTTTTTTTCTTTTTTCTTTTGTTTTGTTTTGTTTTTGAGATGGAGTTTCACTCTTGTTGCCCAGGCTGGAGTGCAATAGCGCACTCTCAGCTCACTGCAACCTCCGCCTCTCAGGTTCAAGGGATTCTCCTGCCTCAGCCTCCCCAGTAGCTGGGATTATAGGCATGCGCCACCACGCCTGGCTAATTTTGTATTTTTAGTAGAGACGGGGTTTTGCCATGTTGGCCAGGCTGGTCTCGAACTCCTGACCTCAGGTGATCCACCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCACACCCAGCCTGAAAAAGAACTATTTTCCCACAAATATTTGAGTATAAATGTGGTTCATTTATCCTGTCTTTGGCATGCTCTAGTTTGAGGAACAACTCCTAGCCCAGTGCCTCCCCAAACTCCTCATCATCAACTCCAACTTCTTGGACAACGCAGACCTCTTGAGTGCACCAGAGCCCATACCTGGCATAGGTGGGGGTAACAACATAGATAGTAGGCAGGGCCTCGGGTTCAGGGGGCTGGGCAGGGGCAGGGGGTGGCCGTCGGAGTTCCGCTTGCAGCTGGGAAATCCTCAGATCCTTCTGCCGTAGCTGCTCGGCTGCTGCCCGCAGGGGAGGAAGGCAGTCACATGGCTGGCCTGGTCCCAGGAAGCATTAATGGGGAAAGAAGGTGGGGACAGAGAACCGCAGAATGTTCAGCATCCCAAAGGGCCGTAATCGTCTCATTAATTCCTAACCAATGCAGGTATCACCTTATGACTTCCCTAGTAGCCTTTTCTATACCTCTCGTGTGGGAAACTCACTGCCTCAAGCAGCAGACCCTCTCCAACTTTAATAAATTCCATTGTTACAATTTTATGTTGGATATTGAGCTGATTCCATCTTTTCTACCTGCTGGTCCTAATTTTGCCTTCTGGGCTTCTAACAAGCTCATGTCCTTAAACAGGACAGTCTTTTCAGAGTCCAAGGTGCCAACTAACCATTACACTATGGAACCCCTTTTGGACAGTCTTTCAAATACCTGAGGATAACGCAGTGGCACTGTCCCTAAATCTTTGCATAAGGGGCAGGGTTCGATCCATTCCCTTGGCTAGGTGACCAAAGACTCATTGTTAAATTCATTGATTCCATCGTAGGATAAATATTTATTGAATACTCTTCCTAGGAGGCACTGCCTTAGGTGCTGGGGATACAGCAGGGAACAAAACAGACACAGTCCCTGCCCTCATCGAGCTTTCTGTTTAGTGGAGGAAGCAGACACTAAGCAAAGAAACAAATTAATAACATTATTACAAACTGTGATGGGGCCATGAAGAAAATAATCAGGATAGAGAATAAAAGGGAATGGAATTAAGAATGGTAACTTTAGCTATGGTGGTCAGGGAAGGCCTCTCTGAGGAGGTGACATTTGAGCTAAGACCTGAAGGATGAGAAAGAGGCAGCCCGGGAAACGCTGGAAGCAAAGCACCCCAAGCAGAGGGAACAAGTTAAGTGCTTGAGAGAGTAATGAGCGTGGGGTTTTCGAGAAACTGTCAGCAAGCCAGTCTGGCTGCAGCAGAGCGAGGGAGAGGGGTGGAAATGGGGTTGGGAGAGGCGGACGGCAGCAGGATCATGCGGGGCCTTGCAGGCTCTGGGAAGGAGTCTGGATTTCATCCGAGGTGCGGCGGGTAGCCGCGGTGCGTTCTATAGAGGGCAGTGCGCCTGAGGCCGCAGAGCTGTCCGGAGGGCCGAGCGGATGAATGGTGTTTGCCGGGGGTTCATCCCCAGGGCGGGATGCACGGCGGCGGGCGCCCTCGGGCCAGCCCGCCGCACCCCCGCCCCGCCCCGCTCACCGAGCTGTACCAGCGCGTAGAGGAGGCCGGCGATCGACACCAGGAAGTAGGCGAGAAACACGTTCTTCAGCTTCAGCTTCATGGCCGCGCCGCCGCCCGCGCCCGAGCAGGCGGGGTCTGCAGGGGACGAGGGGTTCCCGCCCCAAACCCCGGCTCCTGTCCGCAGGCCCCGCCCCTGCAGCGGCTCCGCCCTGCGTCCCGCCTTCCTCGCACTCCCCTACCAGCTCCCAGCTGGGGCTGGCAGCGCCGCCAGGGCACGCTTCCGGTCATCTGTGCACCCCCCCGCCTTGTAGACTTGATTTCCGGTCCCACCGCCAGGTTCCGGGAACCACCGGGTGGTGACGTCACATCCGGCGTGCCAAACTCGCGTGGCCGGCAGTCAAAACCCCGGGTAGGTGCAGAATCTCGAGTAGGTGCACGTGGTACCTACCTCGAGACCCGCCCCCTCATCACGGAATTGCCTGAGAAAGCCAGTCCTGGCGCCCAGATCTTCACCTTATTCATCCATCCAGTCAGTCACGCCACCCAATAGCTGTTGCTCAATACTTATTACACGAATGAAATCTAAGGCCCACCACATGATCCTCTGGGTGTCTCTCCTGGAATCCTCACTATAATACTTTGAGATAGATAAGAAACCAAAGTTGACAAAAATTATGTCATTGCCACAGGGCAGTTTTGTGTCCTTTCT
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GACCATCCTGGCTAACACGGTGAAACCCCATCTCTACTAAAAATATAAAAAATTAGCTGGGTGTGGTGGCGGGCACCTGTAGTCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCAGAGCTTGCAGTGAGCCAAGATCACGCCATTGCACCCAGCCTAGATGACAGAGCGAGACTCCATCTCAAAAAAAAAAAAAATACAAAAGTAAAATACAAAAAATTACTGGCCAGGCATGGTGGCTCACACCTGTAATCCCAGCACTTTGAGAGGCCGAAGCAGGTGGAACACGAAGTCAGGAGTTCCAGACCAGCCTGGCCAACATGGTGAAACCCCATCTCTACTAAAGATACAAAAAATTAGCCGGGTGTGGTGGCGCATGCTTGTAACCCCAGCTACTCGGGGGGCTGAGGCAGGAGAATTGCTTCAATCCGGGAGGTGGAGGTTGCAGTGAGCCGAGATCGTGCCATTGCACTCCAGCCTGGGCGACAGAGTGAGACTCCATCTCGGGAAAAAAAAAAAAAAAATTAGCCTGGTGTGGTGGTGCACGCCTGTAATCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATCGCTTGAACCCGGGAGGTGGAGGTTGCAGTGAGCCAAGATCACACCACTGCACTCCAGCCTGGGCAACAGAGCAAGACTCCATCTCGGTGTTGCGGGGAGGCGGGGGGAAGAAAAAAAAAAAAGGAACAAACCAGGAATGTGGAACGTGGGGCTTGGCCTCTTCTGTACTTCTTTATCCTTCAGATCTACCTGCCTGTCCCAGGGCTGGTTGTGTGTGCATGTCGCAGGTGGGGTCTAGAGCTTCCTATGCGTGAATGGGACAGCCATCTGATTCCCAGAAGATGTATTAACACCCTTATGGCTACAGATCCAAAACCACATTCCCCAATTGGTTTTATTAGTAAAACCAATTACATTTGATTTAAAACAAAAGCAAATGTAAATCACTAAATACAGTGCCTGCTAGAGAGTAAACACACTGTAAGTAACAGCTGGTATAACTATTTCTGGACCCTAGTATGACTATCAGGCCAAGCACTTTCAACTTTTTTTTTTTTGAAATGGGCTCTCTCTGTCGCCCAGGCTGCATGATCTCCACTCACTGCAACCTCCGCCGCCCAGGATCAAGCAATCTTCCCACCTCAGCCTCCAGAGTAGCTGAGATTACAGGCATGCACCATCACGCCTAGCTAACTTTTTTTTTTTTTTTTTTTTTTTTTCAGAGACAAGAGTTTCACCATGTTGCCCAGGCTGGTCTCAAACTCCTGAGCTCAGGCGATCCGCCAGCCTCGGGCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACTGCGCCCAGACAAGCCCTTTCAACTTTAATCAGGGGGTTTTAACTTTCTTGCCAAACGGTCCCTAAGGAGAGAGAGTTAATTCACTGCCAAGCTCAAAATTTCTTTGAAATGTTATTGTTCTATCTTATAATTTGGTAGAAATTTTGTATTTTCCTTCTAGAAAAAGAACTATTTTTTTTCTTTTTTCTTTTGTTTTGTTTTGTTTTTGAGATGGAGTTTCACTCTTGTTGCCCAGGCTGGAGTGCAATAGCGCACTCTCAGCTCACTGCAACCTCCGCCTCTCAGGTTCAAGGGATTCTCCTGCCTCAGCCTCCCCAGTAGCTGGGATTATAGGCATGCGCCACCACGCCTGGCTAATTTTGTATTTTTAGTAGAGACGGGGTTTTGCCATGTTGGCCAGGCTGGTCTCGAACTCCTGACCTCAGGTGATCCACCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCACACCCAGCCTGAAAAAGAACTATTTTCCCACAAATATTTGAGTATAAATGTGGTTCATTTATCCTGTCTTTGGCATGCTCTAGTTTGAGGAACAACTCCTAGCCCAGTGCCTCCCCAAACTCCTCATCATCAACTCCAACTTCTTGGACAACGCAGACCTCTTGAGTGCACCAGAGCCCATACCTGGCATAGGTGAGGGTAACAACATAGATAGTAGGCAGGGCCTCGGGTTCAGGGGGCTGGGCAGGGGCAGGGGGTGGCCGTCGGAGTTCCGCTTGCAGCTGGGAAATCCTCAGATCCTTCTGCCGTAGCTGCTCGGCTGCTGCCCGCAGGGGAGGAAGGCAGTCACATGGCTGGCCTGGTCCCAGGAAGCATTAATGGGGAAAGAAGGTGGGGACAGAGAACCGCAGAATGTTCAGCATCCCAAAGGGCCGTAATCGTCTCATTAATTCCTAACCAATGCAGGTATCACCTTATGACTTCCCTAGTAGCCTTTTCTATACCTCTCGTGTGGGAAACTCACTGCCTCAAGCAGCAGACCCTCTCCAACTTTAATAAATTCCATTGTTACAATTTTATGTTGGATATTGAGCTGATTCCATCTTTTCTACCTGCTGGTCCTAATTTTGCCTTCTGGGCTTCTAACAAGCTCATGTCCTTAAACAGGACAGTCTTTTCAGAGTCCAAGGTGCCAACTAACCATTACACTATGGAACCCCTTTTGGACAGTCTTTCAAATACCTGAGGATAACGCAGTGGCACTGTCCCTAAATCTTTGCATAAGGGGCAGGGTTCGATCCATTCCCTTGGCTAGGTGACCAAAGACTCATTGTTAAATTCATTGATTCCATCGTAGGATAAATATTTATTGAATACTCTTCCTAGGAGGCACTGCCTTAGGTGCTGGGGATACAGCAGGGAACAAAACAGACACAGTCCCTGCCCTCATCGAGCTTTCTGTTTAGTGGAGGAAGCAGACACTAAGCAAAGAAACAAATTAATAACATTATTACAAACTGTGATGGGGCCATGAAGAAAATAATCAGGATAGAGAATAAAAGGGAATGGAATTAAGAATGGTAACTTTAGCTATGGTGGTCAGGGAAGGCCTCTCTGAGGAGGTGACATTTGAGCTAAGACCTGAAGGATGAGAAAGAGGCAGCCCGGGAAACGCTGGAAGCAAAGCACCCCAAGCAGAGGGAACAAGTTAAGTGCTTGAGAGAGTAATGAGCGTGGGGTTTTCGAGAAACTGTCAGCAAGCCAGTCTGGCTGCAGCAGAGCGAGGGAGAGGGGTGGAAATGGGGTTGGGAGAGGCGGACGGCAGCAGGATCATGCGGGGCCTTGCAGGCTCTGGGAAGGAGTCTGGATTTCATCCGAGGTGCGGCGGGTAGCCGCGGTGCGTTCTATAGAGGGCAGTGCGCCTGAGGCCGCAGAGCTGTCCGGAGGGCCGAGCGGATGAATGGTGTTTGCCGGGGGTTCATCCCCAGGGCGGGATGCACGGCGGCGGGCGCCCTCGGGCCAGCCCGCCGCACCCCCGCCCCGCCCCGCTCACCGAGCTGTACCAGCGCGTAGAGGAGGCCGGCGATCGACACCAGGAAGTAGGCGAGAAACACGTTCTTCAGCTTCAGCTTCATGGCCGCGCCGCCGCCCGCGCCCGAGCAGGCGGGGTCTGCAGGGGACGAGGGGTTCCCGCCCCAAACCCCGGCTCCTGTCCGCAGGCCCCGCCCCTGCAGCGGCTCCGCCCTGCGTCCCGCCTTCCTCGCACTCCCCTACCAGCTCCCAGCTGGGGCTGGCAGCGCCGCCAGGGCACGCTTCCGGTCATCTGTGCACCCCCCCGCCTTGTAGACTTGATTTCCGGTCCCACCGCCAGGTTCCGGGAACCACCGGGTGGTGACGTCACATCCGGCGTGCCAAACTCGCGTGGCCGGCAGTCAAAACCCCGGGTAGGTGCAGAATCTCGAGTAGGTGCACGTGGTACCTACCTCGAGACCCGCCCCCTCATCACGGAATTGCCTGAGAAAGCCAGTCCTGGCGCCCAGATCTTCACCTTATTCATCCATCCAGTCAGTCACGCCACCCAATAGCTGTTGCTCAATACTTATTACACGAATGAAATCTAAGGCCCACCACATGATCCTCTGGGTGTCTCTCCTGGAATCCTCACTATAATACTTTGAGATAGATAAGAAACCAAAGTTGACAAAAATTATGTCATTGCCACAGGGCAGTTTTGTGTCCTTTCT
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Task1_train_15981
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This mutation occurs in GANAB (glucosidase II alpha subunit) on Chromosome 11. Does this change lead to a known medical condition, or is it benign?
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Pathogenic; Polycystic kidney disease 3 with or without polycystic liver disease
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ACACTGTACTCCAGCCTGGCGACACTCTGTCTCAAAAAAAAAAAAAAAAAAAAAAAGACCCAGGGCGCAGTGGCTCACTCCTTTAATTCCAGCACTTTGGGAGGCCGAGGCAGGCGGATCACCTGAGGTCAGGAGTTCCAGACCAGCCTGGCCAACATGGTGAAACCCCATCTCTAATAAAAATACAAAAATTAGCTGGGCATGGTGGCGCATGCCTGTAGTCCCAGCGACTCGGGAGGTTGAGGCACGAGAACTGCTTGAACCTGGGAGGCAGAGGTTGCAATGAGCCCAGATCATGCCATTGCATTCCAGCCTGGGCAACAGAGTGAGACTCAGTCTCAAAAAAGAAAAAAAAAGGAAAGCAAATGTAAGGTCTCTAGGCTTCTAGGGTCTGTGGCTCAGGCTAGAACTAGAATCCAGACTACCACCAGTTATTTATGGTTTATCCCTTTATTGTTTCTCCTTTGATCAAAACGTGTCACAGCTGGGAACCAAGAGGAAGTAAAAAAAATACCCACAAATATTCCCCGACTCCCCATTAGTCCTCCCCCAACCCCCCACCCAGGGCTTCCAGCCAACCCCGAGCACACATGATCATCTCCCCCCACCCTCAGGCTTCTCCTAGCAATAAATACAGGTGACCATGATTCACTGAAACCACAACTGATTTCTCCATCTTAAGTGCCCCTCAAAGGGGACAAGAAGGGGGCAAAAGAAGTTTAATGCGCATCCCCTAAGAGGTGTGGAAACGTCTTTCTGCCGAGGGACAGAGGAGGTAGAACTGCCCCTCTAAGAATTGCAGCAGCTCTACAAGGAATCGGGGAGAGGAAAAGGGTAGAATGAGAGGGAAAAGGATGTTCTTTAGCAACCTCACTCCTTTGATCCATTCATCCTGTCCGGGGTAAGGGGTGGTCCCAGTGTATCGGTGGGGCATAAAAAGGGGAGTAAAGCCTGGAGGAAGAAATGAAAGGTGGGAGAGCAATCTGGTGGGAGGGAAGGGGAAAAGGAGCCCTAACTCATTGCCCTCATCTTCTTCCAAGAAGTGGCATCAACATACAAGAGGCATGAATGGATAGACTCTGGGGGAGTTCAGGGCTCCTAAATAAGGGAAAGAGAAGGGGCGACAAGGGCCCTGTGGTTTCCTGGTGTTCGTAAGTGAATGTGCTCCAGTTAGAGCAACAGGATGTTGGGGGAATGAAGGGAAAGAGTTGGTATCAATGGAGTGGGAGAGGTGAGGAGATCACAAGAGGAATTTGGAGCCCAGGGTCAGCCCTCTCATCCTGCCCAAATGTTGGCAGAATCTGGGTCTTAGACTAGCATAAGTGAAGTCTGGGGAGGGCCGAACTCCAAGGCAGAAGAAAGAATATCTCTCAGCACTAATGCTCCCCTTCCCTCCCCCTAACCCAGAACATCCCTTGGGTTATCGCAGGTGAATACTCCAATCAGATGCCACATTGATGCCAGGCTTGCGCAGGACCAACACAGAGGTCTCAGGGTCATGCTGGAAGGACAGGCGGCTTTCTGGAGATCCTGGAGGAGGAATAAAAGAGTGCCATAGTCATACCAATGGGCTATAGCATAACAACAACGTTCCTACAGGCAAGGGCATCCCTAAACCTGCCCCGGCTTCCCCTCCTTCCCCCATCCTAGGGGCCAGATTGGTCACTCACCTTTTGTCTGGAGTACCACAGCTGCTGGCTTTCCAGCCCCTATTATCACCACCCGCTCAATCCAGATTGGTGTCTCAAAGTGTCCTTCAGGGTCTGCTGAGCTGGAGATGGTAAAAGCAGATGTCCATCAGGGGGAAAAATAACAGAACAGAAGGAAGGAGGAGACCCAAAGCAAGGTCAGAATGTGAGAAAAGAGCACAGTGAACTGGGAGCCCCCACAAGGATCAGGCCCCAGCAAAGGCAGCCAAGGAAGAGTGGGTGACCCATTACCTGGAGACAAGGGTGTTGCCAGAGAATGAGAATCGACGCAGCAGGAACTCTTGGCGAGTCTGATAGTTGAACGTGTGCCCATCATCCAGAAAGAGCTCTCCTTGAGCTGTACCCTGAGCAAGAAGTGGGATAGGTGAGCGCCTGAGCCCAAGAGGGAGTGAGGGGCACAACCCCAGAGAACTGAGTCCTAGGAAGGCAGGCAAATGGCTGAGGAGACTCGCTGCCTATGCACTTACCTGAGGGCTAAGTGCAACAAAGAGAGTGATGGGGTCATCCTTCATACATTCTGAAGACCGCCGCACTCGCATCCATCGAGGCACGATTGTCCCTCCACGCTGGAACACAGGGATCTAGGGCAAGAGCAATGCCAGGATGAAGTTGCCCCCTTGTCCAACCTTGGGCCCCACAGCATGTTTTGCTTACTCATGTATGCCCACATAGGTACTGGACCCTAAGGCACACATTCCCTCCCCTTCTGGAAATTTACAGGGAGATGGAACCGGCAGCCAGACCAGGCTTACTCACACTGCTTAGAGTTACAGGCAGGTACAGGGTCTGGGGACCATGATGCTTCTGGTAGCTTTGAATGTCATACCACACCTGTGAGTGACAAAAGAGGTAAGATACCGGATCACTCAGTGCACAGGGGTCCCGTCCTGTTTGCCTCCTTTGGCTTCCACCATCTTTCCCCACCATGCCCTTCCTTAACTCACCTCCCCTTGGCCAGGCAGATAGACCTGGACACCATGGGCTCCAGAGTCTGATACAGGGTGAACCAGCAACGCATCCCCTAAAATATGCCAGAATCAACTCTGAATAGGGGGATTAGTTCCCAGAACAGGGAACACCAAAGTGCCTGCCCTCTGCACCACCAGCTTCACTAGTCCCTCCCTGGGCATCCGCAGTGCTGCTTGGCCCAAAGCCAACCCACCACCAACTATCCTCATTTCTCACCAAGCAAGTACTGATCATCTATATTGAAGGTAGTCACATCCTGAGGGTACTGCACCCACAGGGGCCTAGGAAGGAAGAAAGACAATAAAGGAAAACTTTTCAATTTTGGCACAAGTCAGAAATGCTCCTCCAGGAACTGGCAATAAGAAAAGAACAGCATAGGCCGGGTGTGGTGGCTCACACCTGTAATCCCAACACTTTGGGAGGCCGAGGCGGGAAGATCACCTGAGGTCAGGAGTTCGAGATCAGCCTGAACAACATGGTGAAACCCCGTCTCTACTAAAAATACAAAAATTAGCCGGGCATGGTGGCAGGCACCTGTGATCCCAGCTACTCAGGAGGCTGAGGCTGGAGAATCACTTGAACCCGGGAGGCGGAGTGCATTCAGTGAGCCAAGATCACACCATCGCACTCCAGCCTGGGGGACGAGAGTGAGACTTTGTCTCAAAAAAAAAAAGAAAAGAAAAGAACAGCACAGGGGTTAAGACCCAGGAGTTTGCAGTCAGACAGTCGGGTTGGGGTTCAGGTCTCAGTTATACAATCCAGTCTTAGACATTTAACTTCCTAAGCCATCTCCCTGCTTCTTCTCTGCCCTCTACTGAAACCATGCTGCACAGCAGCCTGCCAGTAGCCTCCTTGCATGTTTCACCGCCCTGGCTTACAACCCTGGGTTGCAACCCTGGCTTGCAAGGCCCTCCAGGAGCAGATCACACTTTCTTCTTAATCTCATCTCCTAGCTCTCCTTCTGCTTCTTTACCCAAGACATACTGTTTTTTTCTATTCCTAGTACATAACAAACTAATTTCTCCTTTAGAATTTTTGTACTTGCAATTCCCTCTGCTTGGAAGATTCTTCCTACATAACATGGTCTGTCCCACTCATTCAGGCCTCATCTCACACAGCCTTCTTCTCAAAACTTTTTTTTTTTTTTTTTTTTCATTTTTTTGAGATGGAGTCTCCCTCTGTCACCCAGGCTAGAATGCAGCAGAGCAATCTCGGCTCACTGCAACCTCTACCTCCTGGGTTCAAGTGATTCTCATGCCTCAGCCTCCCGAGTAGCTGGGATTACAGGCGCCATGATGCCCAGCTAATTTTTGTATTTTTAGTAGAGATGGGGTTTTGCCATGTTGGCCAGGCTGGTCTCAAACTCCTGACCTCAGGTGATCTGCCCACCTCGGCCTCCCAAAGTGCTGGGATTACAG
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ACACTGTACTCCAGCCTGGCGACACTCTGTCTCAAAAAAAAAAAAAAAAAAAAAAAGACCCAGGGCGCAGTGGCTCACTCCTTTAATTCCAGCACTTTGGGAGGCCGAGGCAGGCGGATCACCTGAGGTCAGGAGTTCCAGACCAGCCTGGCCAACATGGTGAAACCCCATCTCTAATAAAAATACAAAAATTAGCTGGGCATGGTGGCGCATGCCTGTAGTCCCAGCGACTCGGGAGGTTGAGGCACGAGAACTGCTTGAACCTGGGAGGCAGAGGTTGCAATGAGCCCAGATCATGCCATTGCATTCCAGCCTGGGCAACAGAGTGAGACTCAGTCTCAAAAAAGAAAAAAAAAGGAAAGCAAATGTAAGGTCTCTAGGCTTCTAGGGTCTGTGGCTCAGGCTAGAACTAGAATCCAGACTACCACCAGTTATTTATGGTTTATCCCTTTATTGTTTCTCCTTTGATCAAAACGTGTCACAGCTGGGAACCAAGAGGAAGTAAAAAAAATACCCACAAATATTCCCCGACTCCCCATTAGTCCTCCCCCAACCCCCCACCCAGGGCTTCCAGCCAACCCCGAGCACACATGATCATCTCCCCCCACCCTCAGGCTTCTCCTAGCAATAAATACAGGTGACCATGATTCACTGAAACCACAACTGATTTCTCCATCTTAAGTGCCCCTCAAAGGGGACAAGAAGGGGGCAAAAGAAGTTTAATGCGCATCCCCTAAGAGGTGTGGAAACGTCTTTCTGCCGAGGGACAGAGGAGGTAGAACTGCCCCTCTAAGAATTGCAGCAGCTCTACAAGGAATCGGGGAGAGGAAAAGGGTAGAATGAGAGGGAAAAGGATGTTCTTTAGCAACCTCACTCCTTTGATCCATTCATCCTGTCCGGGGTAAGGGGTGGTCCCAGTGTATCGGTGGGGCATAAAAAGGGGAGTAAAGCCTGGAGGAAGAAATGAAAGGTGGGAGAGCAATCTGGTGGGAGGGAAGGGGAAAAGGAGCCCTAACTCATTGCCCTCATCTTCTTCCAAGAAGTGGCATCAACATACAAGAGGCATGAATGGATAGACTCTGGGGGAGTTCAGGGCTCCTAAATAAGGGAAAGAGAAGGGGCGACAAGGGCCCTGTGGTTTCCTGGTGTTCGTAAGTGAATGTGCTCCAGTTAGAGCAACAGGATGTTGGGGGAATGAAGGGAAAGAGTTGGTATCAATGGAGTGGGAGAGGTGAGGAGATCACAAGAGGAATTTGGAGCCCAGGGTCAGCCCTCTCATCCTGCCCAAATGTTGGCAGAATCTGGGTCTTAGACTAGCATAAGTGAAGTCTGGGGAGGGCCGAACTCCAAGGCAGAAGAAAGAATATCTCTCAGCACTAATGCTCCCCTTCCCTCCCCCTAACCCAGAACATCCCTTGGGTTATCGCAGGTGAATACTCCAATCAGATGCCACATTGATGCCAGGCTTGCGCAGGACCAACACAGAGGTCTCAGGGTCATGCTGGAAGGACAGGCGGCTTTCTGGAGATCCTGGAGGAGGAATAAAAGAGTGCCATAGTCATACCAATGGGCTATAGCATAACAACAACGTTCCTACAGGCAAGGGCATCCCTAAACCTGCCCCGGCTTCCCCTCCTTCCCCCATCCTAGGGGCCAGATTGGTCACTCACCTTTTGTCTGGAGTACCACAGCTGCTGGCTTTCCAGCCCCTATTATCACCACCCGCTCAATCCAGATTGGTGTCTCAAAGTGTCCTTCAGGGTCTGCTGAGCTGGAGATGGTAAAAGCAGATGTCCATCAGGGGGAAAAATAACAGAACAGAAGGAAGGAGGAGACCCAAAGCAAGGTCAGAATGTGAGAAAAGAGCACAGTGAACTGGGAGCCCCCACAAGGATCAGGCCCCAGCAAAGGCAGCCAAGGAAGAGTGGGTGACCCATTACCTGGAGACAAGGGTGTTGCCAGAGAATGAGAATCGACGCAGCAGGAACTCTTGGCGAGTCTGATAGTTGAACGTGTGCCCATCATCCAGAAAGAGCTCTCCTTGAGCTATACCCTGAGCAAGAAGTGGGATAGGTGAGCGCCTGAGCCCAAGAGGGAGTGAGGGGCACAACCCCAGAGAACTGAGTCCTAGGAAGGCAGGCAAATGGCTGAGGAGACTCGCTGCCTATGCACTTACCTGAGGGCTAAGTGCAACAAAGAGAGTGATGGGGTCATCCTTCATACATTCTGAAGACCGCCGCACTCGCATCCATCGAGGCACGATTGTCCCTCCACGCTGGAACACAGGGATCTAGGGCAAGAGCAATGCCAGGATGAAGTTGCCCCCTTGTCCAACCTTGGGCCCCACAGCATGTTTTGCTTACTCATGTATGCCCACATAGGTACTGGACCCTAAGGCACACATTCCCTCCCCTTCTGGAAATTTACAGGGAGATGGAACCGGCAGCCAGACCAGGCTTACTCACACTGCTTAGAGTTACAGGCAGGTACAGGGTCTGGGGACCATGATGCTTCTGGTAGCTTTGAATGTCATACCACACCTGTGAGTGACAAAAGAGGTAAGATACCGGATCACTCAGTGCACAGGGGTCCCGTCCTGTTTGCCTCCTTTGGCTTCCACCATCTTTCCCCACCATGCCCTTCCTTAACTCACCTCCCCTTGGCCAGGCAGATAGACCTGGACACCATGGGCTCCAGAGTCTGATACAGGGTGAACCAGCAACGCATCCCCTAAAATATGCCAGAATCAACTCTGAATAGGGGGATTAGTTCCCAGAACAGGGAACACCAAAGTGCCTGCCCTCTGCACCACCAGCTTCACTAGTCCCTCCCTGGGCATCCGCAGTGCTGCTTGGCCCAAAGCCAACCCACCACCAACTATCCTCATTTCTCACCAAGCAAGTACTGATCATCTATATTGAAGGTAGTCACATCCTGAGGGTACTGCACCCACAGGGGCCTAGGAAGGAAGAAAGACAATAAAGGAAAACTTTTCAATTTTGGCACAAGTCAGAAATGCTCCTCCAGGAACTGGCAATAAGAAAAGAACAGCATAGGCCGGGTGTGGTGGCTCACACCTGTAATCCCAACACTTTGGGAGGCCGAGGCGGGAAGATCACCTGAGGTCAGGAGTTCGAGATCAGCCTGAACAACATGGTGAAACCCCGTCTCTACTAAAAATACAAAAATTAGCCGGGCATGGTGGCAGGCACCTGTGATCCCAGCTACTCAGGAGGCTGAGGCTGGAGAATCACTTGAACCCGGGAGGCGGAGTGCATTCAGTGAGCCAAGATCACACCATCGCACTCCAGCCTGGGGGACGAGAGTGAGACTTTGTCTCAAAAAAAAAAAGAAAAGAAAAGAACAGCACAGGGGTTAAGACCCAGGAGTTTGCAGTCAGACAGTCGGGTTGGGGTTCAGGTCTCAGTTATACAATCCAGTCTTAGACATTTAACTTCCTAAGCCATCTCCCTGCTTCTTCTCTGCCCTCTACTGAAACCATGCTGCACAGCAGCCTGCCAGTAGCCTCCTTGCATGTTTCACCGCCCTGGCTTACAACCCTGGGTTGCAACCCTGGCTTGCAAGGCCCTCCAGGAGCAGATCACACTTTCTTCTTAATCTCATCTCCTAGCTCTCCTTCTGCTTCTTTACCCAAGACATACTGTTTTTTTCTATTCCTAGTACATAACAAACTAATTTCTCCTTTAGAATTTTTGTACTTGCAATTCCCTCTGCTTGGAAGATTCTTCCTACATAACATGGTCTGTCCCACTCATTCAGGCCTCATCTCACACAGCCTTCTTCTCAAAACTTTTTTTTTTTTTTTTTTTTCATTTTTTTGAGATGGAGTCTCCCTCTGTCACCCAGGCTAGAATGCAGCAGAGCAATCTCGGCTCACTGCAACCTCTACCTCCTGGGTTCAAGTGATTCTCATGCCTCAGCCTCCCGAGTAGCTGGGATTACAGGCGCCATGATGCCCAGCTAATTTTTGTATTTTTAGTAGAGATGGGGTTTTGCCATGTTGGCCAGGCTGGTCTCAAACTCCTGACCTCAGGTGATCTGCCCACCTCGGCCTCCCAAAGTGCTGGGATTACAG
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Task1_train_15982
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The following genetic variant occurs in GANAB (glucosidase II alpha subunit) on Chromosome 11. Classify its clinical effect — pathogenic or benign — and list any associated condition.
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Pathogenic; Autosomal dominant polycystic liver disease
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ACCTGTGATCCCAGCTACTCAGGAGGCTGAGGCTGGAGAATCACTTGAACCCGGGAGGCGGAGTGCATTCAGTGAGCCAAGATCACACCATCGCACTCCAGCCTGGGGGACGAGAGTGAGACTTTGTCTCAAAAAAAAAAAGAAAAGAAAAGAACAGCACAGGGGTTAAGACCCAGGAGTTTGCAGTCAGACAGTCGGGTTGGGGTTCAGGTCTCAGTTATACAATCCAGTCTTAGACATTTAACTTCCTAAGCCATCTCCCTGCTTCTTCTCTGCCCTCTACTGAAACCATGCTGCACAGCAGCCTGCCAGTAGCCTCCTTGCATGTTTCACCGCCCTGGCTTACAACCCTGGGTTGCAACCCTGGCTTGCAAGGCCCTCCAGGAGCAGATCACACTTTCTTCTTAATCTCATCTCCTAGCTCTCCTTCTGCTTCTTTACCCAAGACATACTGTTTTTTTCTATTCCTAGTACATAACAAACTAATTTCTCCTTTAGAATTTTTGTACTTGCAATTCCCTCTGCTTGGAAGATTCTTCCTACATAACATGGTCTGTCCCACTCATTCAGGCCTCATCTCACACAGCCTTCTTCTCAAAACTTTTTTTTTTTTTTTTTTTTCATTTTTTTGAGATGGAGTCTCCCTCTGTCACCCAGGCTAGAATGCAGCAGAGCAATCTCGGCTCACTGCAACCTCTACCTCCTGGGTTCAAGTGATTCTCATGCCTCAGCCTCCCGAGTAGCTGGGATTACAGGCGCCATGATGCCCAGCTAATTTTTGTATTTTTAGTAGAGATGGGGTTTTGCCATGTTGGCCAGGCTGGTCTCAAACTCCTGACCTCAGGTGATCTGCCCACCTCGGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACTGTGCCCGGCCTCAAAAAGGGATTTTATGACCACCTAATCCCATTACCCTGTTTTATTTTTCTGAAAGAGCTTATGACTGCTGTCAATTTTCTTTAAATGTTTACTATTATTCATCTCCATTAAGCTCCCCTTCACTCTTGACCTTAATGATTTTCCATCCTTTACAAGGCTGTAGTGAGTGAAGAAAGAGACCCAGAGATGAAGCCCAGTCCCTAATACCCCCAGCCACCTCAGCCCACTCTTCACAGCCCAAGTGAATGCCTCACCTCATGACAGGAATGCCTTCCCGATGGGCCTGATATAAGAGGGTGTACCAGAAGGGCAGCAAAGAATATCGCTGGCCCAAGGCATCTCGGATTATATCATTGTGCTGAGATGGTAACAGCCATGGCTCTCGTCGCCCAGTGTCCAAGTGGGCATGTGCCCGGAAGAATGGCTGGTAAGCACCCATCTGGTACCAGCGCACAAGCAGCTCTGGCTCTGGGTTTTTGAAGAAGCCACCCACATCCGCTGGTAGAGGAGAGAGAGGAAGCAGGTTGGAAAAGAGGGTGAAGGAGAGATACTGCTTGAGAAACTTCCCAAGGCCCTAACTTGGACTCTCAACTCTCTTTGCTTACAACACCTTGGTCCTGTGCCCTCTACTTTGCCCCTTTCCCACCAAACCAAGACCCCAAATTCCTCCCTGTCTTACCCCCACAGAAGGAAAGTCCCACCAGCCCCAAGCTGAGACACATAGGAATAGAGATCTTCAAATGGTCCCACTCGGCAGTGTTGTCCCCTGTCCACACGGCTCCTGAGGAAGACAAGAAGTGGGGAGCTTGCACATGGTAAAGGAGTTCAGCTTTTTACATGGCTGACCTCCCACATCCGCTCTGGGTCCCCAGAACCCTGCTGAAGATGCAGTTCACAAGAACATTTGAACAAGGAGTGGACCTCCCACACCCTGACTTCCTTCAAAGCGCATAGCTGAGAGGAAACAGATGCAGTGTGTGGCTCCCATTCCTCAGAGAGGCAGGTCCAGGTCCATGGCTCCTGAGATCTGGCCTTCACACCCTTCTGCCACAGCTCCATTCTCTAAACCTTACCAAAGCGCTGGGAGCCAGCGAAGAAGGCCCTGGCCAGGACAAAGGGGCGTTCCATGCCCCCAGAGCGCTGTCTCAGCCCATCAGCAGTCGCCATGTGCTGGGTGAGGAGAGAAGAGACGGGTAGTGAGGAGCAAAAGCCAGCTGTCATCTGGTGCAAGTTCCCTAGGCCCTCAGTCTCTGGGCTGTTTTCCCTCTTTCCACCAACTCTCCTCTCTCAGGCCCTTACCACATAAAGGCCATAGATGTTATGCACATCCCGGTGCTCCCAGCCCCCATAATGCTGGGCATCCTTGAGCATGGTGACCTCAGGACCATTGAACACAGATGGTTCGTTCATGTCATTCCAGACAAAGAGGTTGGGAGCTGAGCCCTGGGAACGTGGGCAGAAAATGGGGACAGAAGGACAGAGGGGAGGAAGAAGACAAACAGTGTCAGAGAAGAGAGCTCCTAGGAATCTAAAAAGATGCATTTTTCAGGGCCCTCCCCGGATCATCAAGGCCCCCTGATATGTTGCAGGCAATCAACCATAGAAGGGTTGGCAAGCCGAGAGAGATTCAGGGAGGCAGGTGGAACAGACAGACGCAGGTCATGGGGAGAGGCCTTCCCTACCTCATAATTGTCATAGCTGAACATGTTAGCCCACCAGGCCCTCATCGTGGGATTAGTGAAGTCAGGGTAACCAGCTGAGCCTGGGAGAAGTTAAGGGTGGCTCTCAATCCCCTAAGGGGCAAAAGAGCCACCATTCTACCCCGCTGGCCAATCAACTCTCCCTCAATTCTGGGTCTGCTTACCTGGCCAGCACCAGCCCTCATAGTCAGAGCCATCCCGGGTTTTAACATACAGCCCCAGGTTCCGCAGCTCCTCGTGAACTCGGTAGCCGGAGTCCACCTTGATGTGGGGGTCTACGATGGCCACCAGCTGGGGGCAAGGAACAGGGGTGTTCAGGTCTCTTTAAGGCTAAACTATGCTTCAGCCCTACCCTGAGAAGACCAAGCGTGACTGCAACCCCTTACCTTCCGCCTCTTAGAAGCCAAGCGCTCAAGCATGGTGCGGGGCTGAGGGAAGCGACTGGGGTCCCAGGTGAAATACCGCTTGCCATCAGCATGTTCAATGTCTAGCCAGATGACATCACAGGGCAGGTTGTGATCATCAAAGCCCTGATCCACTTCCAGCACATCAGCCTCGTCCCGGTAGTTCCAACGGCTCTGGTGGTAGCCGAGGGAGAAGAGTGGGGGCAACGCCTGGGTTCCTGCAGGTTCATGAGGGATGGGGGTCACAACGAGGATCAGGCCCAACACCCAGAAACTGAGGGAGGCTTGTGAACTAGAGGCAGGCTGAGGGGTATAAACCTAGAAAACAAGCTGGGGCACAGGATCTCTGAAAACACATAGAATCACCCGACAAGAAAAGAGCAGAAGAATGAGGCAGGGAAAACCATGTACCTGTGAGACTAGCATATTGCCGGAAAACATCAGAGATGGAGGGCCCCAGCAGCAGGAAGACGTCAATGATGCCAGTCTCTGACATCCAGCGAACATCTGTCTGTGGGGTCTCCCCAGAGCCCTGCAGGTAGTCCATCATCTTCCCAAACAGGGTCTGTATAGGTGACCACAAAGGGGTCAGACACCTCCTGCCCTCCCATTTTCCAACCCCAAGACAAAAAGTAGCAATTTTCTCCCAGAGTCCACACAGAGCTGGCTCATGTAAGCTGCTTTCGGTAAGACTAAACGGGGCCTCTTCAGTGAGGCTTTCCTAGACCACACTATCTAAAGCAGTACAGCCCCCACCCCTACCCCACCAGTTTGGGGTGGTTAAGTGCTAACAAAGACTCTCTTTCATGTCTTTGTTAGCACTTAATCACCCCAAACTCATCTTGCATTCTTTTTTTTTTTTTTAGACAGAGTCTCACTCTTTTGCCAGGCTGGAGTGCAATGGTGTGATCTTAGCTCACTGCAATCTCCACCTCCCCAGTTCAACCAGTTCTCCTGCCTCAGCCTCCCGAGTAGCTAAGACTACAGGCGCACACCACCACACCCAGCTAACTTTTGTATTTTCAGTAGAAACAGGGTTTCACAATGTTGGCCAGGATGGTCTCGATCTCTTGACCTTGTGA
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ACCTGTGATCCCAGCTACTCAGGAGGCTGAGGCTGGAGAATCACTTGAACCCGGGAGGCGGAGTGCATTCAGTGAGCCAAGATCACACCATCGCACTCCAGCCTGGGGGACGAGAGTGAGACTTTGTCTCAAAAAAAAAAAGAAAAGAAAAGAACAGCACAGGGGTTAAGACCCAGGAGTTTGCAGTCAGACAGTCGGGTTGGGGTTCAGGTCTCAGTTATACAATCCAGTCTTAGACATTTAACTTCCTAAGCCATCTCCCTGCTTCTTCTCTGCCCTCTACTGAAACCATGCTGCACAGCAGCCTGCCAGTAGCCTCCTTGCATGTTTCACCGCCCTGGCTTACAACCCTGGGTTGCAACCCTGGCTTGCAAGGCCCTCCAGGAGCAGATCACACTTTCTTCTTAATCTCATCTCCTAGCTCTCCTTCTGCTTCTTTACCCAAGACATACTGTTTTTTTCTATTCCTAGTACATAACAAACTAATTTCTCCTTTAGAATTTTTGTACTTGCAATTCCCTCTGCTTGGAAGATTCTTCCTACATAACATGGTCTGTCCCACTCATTCAGGCCTCATCTCACACAGCCTTCTTCTCAAAACTTTTTTTTTTTTTTTTTTTTCATTTTTTTGAGATGGAGTCTCCCTCTGTCACCCAGGCTAGAATGCAGCAGAGCAATCTCGGCTCACTGCAACCTCTACCTCCTGGGTTCAAGTGATTCTCATGCCTCAGCCTCCCGAGTAGCTGGGATTACAGGCGCCATGATGCCCAGCTAATTTTTGTATTTTTAGTAGAGATGGGGTTTTGCCATGTTGGCCAGGCTGGTCTCAAACTCCTGACCTCAGGTGATCTGCCCACCTCGGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACTGTGCCCGGCCTCAAAAAGGGATTTTATGACCACCTAATCCCATTACCCTGTTTTATTTTTCTGAAAGAGCTTATGACTGCTGTCAATTTTCTTTAAATGTTTACTATTATTCATCTCCATTAAGCTCCCCTTCACTCTTGACCTTAATGATTTTCCATCCTTTACAAGGCTGTAGTGAGTGAAGAAAGAGACCCAGAGATGAAGCCCAGTCCCTAATACCCCCAGCCACCTCAGCCCACTCTTCACAGCCCAAGTGAATGCCTCACCTCATGACAGGAATGCCTTCCCGATGGGCCTGATATAAGAGGGTGTACCAGAAGGGCAGCAAAGAATATCGCTGGCCCAAGGCATCTCGGATTATATCATTGTGCTGAGATGGTAACAGCCATGGCTCTCGTCGCCCAGTGTCCAAGTGGGCATGTGCCCGGAAGAATGGCTGGTAAGCACCCATCTGGTACCAGCGCACAAGCAGCTCTGGCTCTGGGTTTTTGAAGAAGCCACCCACATCCGCTGGTAGAGGAGAGAGAGGAAGCAGGTTGGAAAAGAGGGTGAAGGAGAGATACTGCTTGAGAAACTTCCCAAGGCCCTAACTTGGACTCTCAACTCTCTTTGCTTACAACACCTTGGTCCTGTGCCCTCTACTTTGCCCCTTTCCCACCAAACCAAGACCCCAAATTCCTCCCTGTCTTACCCCCACAGAAGGAAAGTCCCACCAGCCCCAAGCTGAGACACATAGGAATAGAGATCTTCAAATGGTCCCACTCGGCAGTGTTGTCCCCTGTCCACACGGCTCCTGAGGAAGACAAGAAGTGGGGAGCTTGCACATGGTAAAGGAGTTCAGCTTTTTACATGGCTGACCTCCCACATCCGCTCTGGGTCCCCAGAACCCTGCTGAAGATGCAGTTCACAAGAACATTTGAACAAGGAGTGGACCTCCCACACCCTGACTTCCTTCAAAGCGCATAGCTGAGAGGAAACAGATGCAGTGTGTGGCTCCCATTCCTCAGAGAGGCAGGTCCAGGTCCATGGCTCCTGAGATCTGGCCTTCACACCCTTCTGCCACAGCTCCATTCTCTAAACCTTACCAAAGCGCTGGGAGCCAGCGAAGAAGGCCCTGGCCAGGACAAAGGGGCGTTCCATGCCCCCAGAGGGCTGTCTCAGCCCATCAGCAGTCGCCATGTGCTGGGTGAGGAGAGAAGAGACGGGTAGTGAGGAGCAAAAGCCAGCTGTCATCTGGTGCAAGTTCCCTAGGCCCTCAGTCTCTGGGCTGTTTTCCCTCTTTCCACCAACTCTCCTCTCTCAGGCCCTTACCACATAAAGGCCATAGATGTTATGCACATCCCGGTGCTCCCAGCCCCCATAATGCTGGGCATCCTTGAGCATGGTGACCTCAGGACCATTGAACACAGATGGTTCGTTCATGTCATTCCAGACAAAGAGGTTGGGAGCTGAGCCCTGGGAACGTGGGCAGAAAATGGGGACAGAAGGACAGAGGGGAGGAAGAAGACAAACAGTGTCAGAGAAGAGAGCTCCTAGGAATCTAAAAAGATGCATTTTTCAGGGCCCTCCCCGGATCATCAAGGCCCCCTGATATGTTGCAGGCAATCAACCATAGAAGGGTTGGCAAGCCGAGAGAGATTCAGGGAGGCAGGTGGAACAGACAGACGCAGGTCATGGGGAGAGGCCTTCCCTACCTCATAATTGTCATAGCTGAACATGTTAGCCCACCAGGCCCTCATCGTGGGATTAGTGAAGTCAGGGTAACCAGCTGAGCCTGGGAGAAGTTAAGGGTGGCTCTCAATCCCCTAAGGGGCAAAAGAGCCACCATTCTACCCCGCTGGCCAATCAACTCTCCCTCAATTCTGGGTCTGCTTACCTGGCCAGCACCAGCCCTCATAGTCAGAGCCATCCCGGGTTTTAACATACAGCCCCAGGTTCCGCAGCTCCTCGTGAACTCGGTAGCCGGAGTCCACCTTGATGTGGGGGTCTACGATGGCCACCAGCTGGGGGCAAGGAACAGGGGTGTTCAGGTCTCTTTAAGGCTAAACTATGCTTCAGCCCTACCCTGAGAAGACCAAGCGTGACTGCAACCCCTTACCTTCCGCCTCTTAGAAGCCAAGCGCTCAAGCATGGTGCGGGGCTGAGGGAAGCGACTGGGGTCCCAGGTGAAATACCGCTTGCCATCAGCATGTTCAATGTCTAGCCAGATGACATCACAGGGCAGGTTGTGATCATCAAAGCCCTGATCCACTTCCAGCACATCAGCCTCGTCCCGGTAGTTCCAACGGCTCTGGTGGTAGCCGAGGGAGAAGAGTGGGGGCAACGCCTGGGTTCCTGCAGGTTCATGAGGGATGGGGGTCACAACGAGGATCAGGCCCAACACCCAGAAACTGAGGGAGGCTTGTGAACTAGAGGCAGGCTGAGGGGTATAAACCTAGAAAACAAGCTGGGGCACAGGATCTCTGAAAACACATAGAATCACCCGACAAGAAAAGAGCAGAAGAATGAGGCAGGGAAAACCATGTACCTGTGAGACTAGCATATTGCCGGAAAACATCAGAGATGGAGGGCCCCAGCAGCAGGAAGACGTCAATGATGCCAGTCTCTGACATCCAGCGAACATCTGTCTGTGGGGTCTCCCCAGAGCCCTGCAGGTAGTCCATCATCTTCCCAAACAGGGTCTGTATAGGTGACCACAAAGGGGTCAGACACCTCCTGCCCTCCCATTTTCCAACCCCAAGACAAAAAGTAGCAATTTTCTCCCAGAGTCCACACAGAGCTGGCTCATGTAAGCTGCTTTCGGTAAGACTAAACGGGGCCTCTTCAGTGAGGCTTTCCTAGACCACACTATCTAAAGCAGTACAGCCCCCACCCCTACCCCACCAGTTTGGGGTGGTTAAGTGCTAACAAAGACTCTCTTTCATGTCTTTGTTAGCACTTAATCACCCCAAACTCATCTTGCATTCTTTTTTTTTTTTTTAGACAGAGTCTCACTCTTTTGCCAGGCTGGAGTGCAATGGTGTGATCTTAGCTCACTGCAATCTCCACCTCCCCAGTTCAACCAGTTCTCCTGCCTCAGCCTCCCGAGTAGCTAAGACTACAGGCGCACACCACCACACCCAGCTAACTTTTGTATTTTCAGTAGAAACAGGGTTTCACAATGTTGGCCAGGATGGTCTCGATCTCTTGACCTTGTGA
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Task1_train_15983
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This alteration occurs within gene GANAB (glucosidase II alpha subunit) located on Chromosome 11. Is it associated with a disease or is it a benign variant?
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Pathogenic; POLYCYSTIC KIDNEY DISEASE 3 WITHOUT POLYCYSTIC LIVER DISEASE
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TGGGTTTTTGAAGAAGCCACCCACATCCGCTGGTAGAGGAGAGAGAGGAAGCAGGTTGGAAAAGAGGGTGAAGGAGAGATACTGCTTGAGAAACTTCCCAAGGCCCTAACTTGGACTCTCAACTCTCTTTGCTTACAACACCTTGGTCCTGTGCCCTCTACTTTGCCCCTTTCCCACCAAACCAAGACCCCAAATTCCTCCCTGTCTTACCCCCACAGAAGGAAAGTCCCACCAGCCCCAAGCTGAGACACATAGGAATAGAGATCTTCAAATGGTCCCACTCGGCAGTGTTGTCCCCTGTCCACACGGCTCCTGAGGAAGACAAGAAGTGGGGAGCTTGCACATGGTAAAGGAGTTCAGCTTTTTACATGGCTGACCTCCCACATCCGCTCTGGGTCCCCAGAACCCTGCTGAAGATGCAGTTCACAAGAACATTTGAACAAGGAGTGGACCTCCCACACCCTGACTTCCTTCAAAGCGCATAGCTGAGAGGAAACAGATGCAGTGTGTGGCTCCCATTCCTCAGAGAGGCAGGTCCAGGTCCATGGCTCCTGAGATCTGGCCTTCACACCCTTCTGCCACAGCTCCATTCTCTAAACCTTACCAAAGCGCTGGGAGCCAGCGAAGAAGGCCCTGGCCAGGACAAAGGGGCGTTCCATGCCCCCAGAGCGCTGTCTCAGCCCATCAGCAGTCGCCATGTGCTGGGTGAGGAGAGAAGAGACGGGTAGTGAGGAGCAAAAGCCAGCTGTCATCTGGTGCAAGTTCCCTAGGCCCTCAGTCTCTGGGCTGTTTTCCCTCTTTCCACCAACTCTCCTCTCTCAGGCCCTTACCACATAAAGGCCATAGATGTTATGCACATCCCGGTGCTCCCAGCCCCCATAATGCTGGGCATCCTTGAGCATGGTGACCTCAGGACCATTGAACACAGATGGTTCGTTCATGTCATTCCAGACAAAGAGGTTGGGAGCTGAGCCCTGGGAACGTGGGCAGAAAATGGGGACAGAAGGACAGAGGGGAGGAAGAAGACAAACAGTGTCAGAGAAGAGAGCTCCTAGGAATCTAAAAAGATGCATTTTTCAGGGCCCTCCCCGGATCATCAAGGCCCCCTGATATGTTGCAGGCAATCAACCATAGAAGGGTTGGCAAGCCGAGAGAGATTCAGGGAGGCAGGTGGAACAGACAGACGCAGGTCATGGGGAGAGGCCTTCCCTACCTCATAATTGTCATAGCTGAACATGTTAGCCCACCAGGCCCTCATCGTGGGATTAGTGAAGTCAGGGTAACCAGCTGAGCCTGGGAGAAGTTAAGGGTGGCTCTCAATCCCCTAAGGGGCAAAAGAGCCACCATTCTACCCCGCTGGCCAATCAACTCTCCCTCAATTCTGGGTCTGCTTACCTGGCCAGCACCAGCCCTCATAGTCAGAGCCATCCCGGGTTTTAACATACAGCCCCAGGTTCCGCAGCTCCTCGTGAACTCGGTAGCCGGAGTCCACCTTGATGTGGGGGTCTACGATGGCCACCAGCTGGGGGCAAGGAACAGGGGTGTTCAGGTCTCTTTAAGGCTAAACTATGCTTCAGCCCTACCCTGAGAAGACCAAGCGTGACTGCAACCCCTTACCTTCCGCCTCTTAGAAGCCAAGCGCTCAAGCATGGTGCGGGGCTGAGGGAAGCGACTGGGGTCCCAGGTGAAATACCGCTTGCCATCAGCATGTTCAATGTCTAGCCAGATGACATCACAGGGCAGGTTGTGATCATCAAAGCCCTGATCCACTTCCAGCACATCAGCCTCGTCCCGGTAGTTCCAACGGCTCTGGTGGTAGCCGAGGGAGAAGAGTGGGGGCAACGCCTGGGTTCCTGCAGGTTCATGAGGGATGGGGGTCACAACGAGGATCAGGCCCAACACCCAGAAACTGAGGGAGGCTTGTGAACTAGAGGCAGGCTGAGGGGTATAAACCTAGAAAACAAGCTGGGGCACAGGATCTCTGAAAACACATAGAATCACCCGACAAGAAAAGAGCAGAAGAATGAGGCAGGGAAAACCATGTACCTGTGAGACTAGCATATTGCCGGAAAACATCAGAGATGGAGGGCCCCAGCAGCAGGAAGACGTCAATGATGCCAGTCTCTGACATCCAGCGAACATCTGTCTGTGGGGTCTCCCCAGAGCCCTGCAGGTAGTCCATCATCTTCCCAAACAGGGTCTGTATAGGTGACCACAAAGGGGTCAGACACCTCCTGCCCTCCCATTTTCCAACCCCAAGACAAAAAGTAGCAATTTTCTCCCAGAGTCCACACAGAGCTGGCTCATGTAAGCTGCTTTCGGTAAGACTAAACGGGGCCTCTTCAGTGAGGCTTTCCTAGACCACACTATCTAAAGCAGTACAGCCCCCACCCCTACCCCACCAGTTTGGGGTGGTTAAGTGCTAACAAAGACTCTCTTTCATGTCTTTGTTAGCACTTAATCACCCCAAACTCATCTTGCATTCTTTTTTTTTTTTTTAGACAGAGTCTCACTCTTTTGCCAGGCTGGAGTGCAATGGTGTGATCTTAGCTCACTGCAATCTCCACCTCCCCAGTTCAACCAGTTCTCCTGCCTCAGCCTCCCGAGTAGCTAAGACTACAGGCGCACACCACCACACCCAGCTAACTTTTGTATTTTCAGTAGAAACAGGGTTTCACAATGTTGGCCAGGATGGTCTCGATCTCTTGACCTTGTGATCTGTCCACCTCGCCCTCCCAAAGTGCTGGGATTAGAGGTGGGAGCCACTGCACCCGGCATCATCTTGCTTATTATTTTTATTTTTCAAACGTTTTTATAGAGATGGGGTCTCGCCATGTTGCCCAGGCTGGTCTCGAACTCCTGGCCTCAAGCGATCCTCTTGCCTCAGCCTCCCCAAGTGCTGGGATTACAGACATGAGCTATCATGCCCGGCCCCATCTTGCCTCCTTTGTTATGTGTTTAACGTGTCTTCCTCCCTGTGAGTCAGAACCTTTCTTTTTTTTTTTTCTGAAACAGAGTCTCACTCTGTCACCCAGGCTGGAGTGCAGTGGTGAAATCTCCGCTCACTGCAACCTCCACCAACCAGATTCATGCAATTAACCTGCCTTAGCCTCCCGAATAGCTGGGATTACAGGAGTCCGCCGCCACACCCTGCTAATTTTTGTTTTTCTAGTAGAGATGAGGTTTCGCCATGTTGGCCAGGCTGGTCTCCAACTTCTGACCTCAGGTGATCCGCCCACCTCAGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCACACCCAGCCCAGAACCTTTTCAACCTCAGTTAACACTATATCCCCAGCACCCAGAAGAGTACCTAGCACGTAACACACTGATAATAAGTGCATTCCGTCAGCCCAGAATAGGCAATGCCTTCCCTAAGAATGTGAGTGAGCGTGTCACCTGGGAGTGATTAGGGAACTCAAATGCTGCCCACCAGGCCCACAGCCCCTTCTTAAACCCAGTCCCCAAATAGCTAATGCCCCTAGTATACCTATTTGCCTCAAGGCCTGGAAGCTTCACTCCCTCCTTTTTCCCCGTGCCTGTGCTCTCACCTTCCCGGCAGTGTTGGAAGATATATCAACCCAGGTCTCTGCAGCATTGAGCCAGAAGATGCCCAAGTCGCGATGAGGGTTGTGTGCCAGGAGCACAGGCACAGACCCATACAAGGCCATTGGGTTGTACAGCTCATACTGGAACACATCCAAATTGTAGAGGCGATATGGCTCCCCACCCCTGCAGGCAAACAGACAGACTTGGGCTGCTAACTGGCCCCAGGCTGCGTTATATGCTAACACCACTCCACAGACACAGGTGAGAGATAAGCAAAGGCTCCTCTTGTCCTTTCTCAAAAAATTTTCTATCACCAAAGGTGATTCTGGACACAAGAAATGACCCATGCTTGCCTAGAGTATCCAATATGCACACCCATCTCCCTAAAGGCCTGACTCCTTCCTGCCCACCTCCATCTTCCTGATGTCACCATAGGACTCACTCAGTGACCTTCAGCCTCAGGTTGTCTGCATGCTCAGGGATCCCATAGACATGCTCCATGCCTGGCAGAGAGAAG
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TGGGTTTTTGAAGAAGCCACCCACATCCGCTGGTAGAGGAGAGAGAGGAAGCAGGTTGGAAAAGAGGGTGAAGGAGAGATACTGCTTGAGAAACTTCCCAAGGCCCTAACTTGGACTCTCAACTCTCTTTGCTTACAACACCTTGGTCCTGTGCCCTCTACTTTGCCCCTTTCCCACCAAACCAAGACCCCAAATTCCTCCCTGTCTTACCCCCACAGAAGGAAAGTCCCACCAGCCCCAAGCTGAGACACATAGGAATAGAGATCTTCAAATGGTCCCACTCGGCAGTGTTGTCCCCTGTCCACACGGCTCCTGAGGAAGACAAGAAGTGGGGAGCTTGCACATGGTAAAGGAGTTCAGCTTTTTACATGGCTGACCTCCCACATCCGCTCTGGGTCCCCAGAACCCTGCTGAAGATGCAGTTCACAAGAACATTTGAACAAGGAGTGGACCTCCCACACCCTGACTTCCTTCAAAGCGCATAGCTGAGAGGAAACAGATGCAGTGTGTGGCTCCCATTCCTCAGAGAGGCAGGTCCAGGTCCATGGCTCCTGAGATCTGGCCTTCACACCCTTCTGCCACAGCTCCATTCTCTAAACCTTACCAAAGCGCTGGGAGCCAGCGAAGAAGGCCCTGGCCAGGACAAAGGGGCGTTCCATGCCCCCAGAGCGCTGTCTCAGCCCATCAGCAGTCGCCATGTGCTGGGTGAGGAGAGAAGAGACGGGTAGTGAGGAGCAAAAGCCAGCTGTCATCTGGTGCAAGTTCCCTAGGCCCTCAGTCTCTGGGCTGTTTTCCCTCTTTCCACCAACTCTCCTCTCTCAGGCCCTTACCACATAAAGGCCATAGATGTTATGCACATCCCGGTGCTCCCAGCCCCCATAATGCTGGGCATCCTTGAGCATGGTGACCTCAGGACCATTGAACACAGATGGTTCGTTCATGTCATTCCAGACAAAGAGGTTGGGAGCTGAGCCCTGGGAACGTGGGCAGAAAATGGGGACAGAAGGACAGAGGGGAGGAAGAAGACAAACAGTGTCAGAGAAGAGAGCTCCTAGGAATCTAAAAAGATGCATTTTTCAGGGCCCTCCCCGGATCATCAAGGCCCCCTGATATGTTGCAGGCAATCAACCATAGAAGGGTTGGCAAGCCGAGAGAGATTCAGGGAGGCAGGTGGAACAGACAGACGCAGGTCATGGGGAGAGGCCTTCCCTACCTCATAATTGTCATAGCTGAACATGTTAGCCCACCAGGCCCTCATCGTGGGATTAGTGAAGTCAGGGTAACCAGCTGAGCCTGGGAGAAGTTAAGGGTGGCTCTCAATCCCCTAAGGGGCAAAAGAGCCACCATTCTACCCCGCTGGCCAATCAACTCTCCCTCAATTCTGGGTCTGCTTACCTGGCCAGCACCAGCCCTCATAGTCAGAGCCATCCCGGGTTTTAACATACAGCCCCAGGTTCCGCAGCTCCTCGTGAACTCGGTAGCCGGAGTCCACCTTGATGTGGGGGTCTACGATGGCCACCAGCTGGGGGCAAGGAACAGGGGTGTTCAGGTCTCTTTAAGGCTAAACTATGCTTCAGCCCTACCCTGAGAAGACCAAGCGTGACTGCAACCCCTTACCTTCCGCCTCTTAGAAGCCAAGCGCTCAAGCATGGTGCGGGGCTGAGGGAAGCGACTGGGGTCCCAGGTGAAATACCGCTTGCCATCAGCATGTTCAATGTCTAGCCAGATGACATCACAGGGCAGGTTGTGATCATCAAAGCCCTGATCCACTTCCAGCACATCAGCCTCGTCCCGGTAGTTCCAACGGCTCTGGTGGTAGCCGAGGGAGAAGAGTGGGGGCAACGCCTGGGTTCCTGCAGGTTCATGAGGGATGGGGGTCACAACGAGGATCAGGCCCAACACCCAGAAACTGAGGGAGGCTTGTGAACTAGAGGCAGGCTGAGGGGTATAAACCTAGAAAACAAGCTGGGGCACAGGATCTCTGAAAACACATAGAATCACCCGACAAGAAAAGAGCAGAAGAATGAGGCAGGGAAAACCATGTACCTCTGAGACTAGCATATTGCCGGAAAACATCAGAGATGGAGGGCCCCAGCAGCAGGAAGACGTCAATGATGCCAGTCTCTGACATCCAGCGAACATCTGTCTGTGGGGTCTCCCCAGAGCCCTGCAGGTAGTCCATCATCTTCCCAAACAGGGTCTGTATAGGTGACCACAAAGGGGTCAGACACCTCCTGCCCTCCCATTTTCCAACCCCAAGACAAAAAGTAGCAATTTTCTCCCAGAGTCCACACAGAGCTGGCTCATGTAAGCTGCTTTCGGTAAGACTAAACGGGGCCTCTTCAGTGAGGCTTTCCTAGACCACACTATCTAAAGCAGTACAGCCCCCACCCCTACCCCACCAGTTTGGGGTGGTTAAGTGCTAACAAAGACTCTCTTTCATGTCTTTGTTAGCACTTAATCACCCCAAACTCATCTTGCATTCTTTTTTTTTTTTTTAGACAGAGTCTCACTCTTTTGCCAGGCTGGAGTGCAATGGTGTGATCTTAGCTCACTGCAATCTCCACCTCCCCAGTTCAACCAGTTCTCCTGCCTCAGCCTCCCGAGTAGCTAAGACTACAGGCGCACACCACCACACCCAGCTAACTTTTGTATTTTCAGTAGAAACAGGGTTTCACAATGTTGGCCAGGATGGTCTCGATCTCTTGACCTTGTGATCTGTCCACCTCGCCCTCCCAAAGTGCTGGGATTAGAGGTGGGAGCCACTGCACCCGGCATCATCTTGCTTATTATTTTTATTTTTCAAACGTTTTTATAGAGATGGGGTCTCGCCATGTTGCCCAGGCTGGTCTCGAACTCCTGGCCTCAAGCGATCCTCTTGCCTCAGCCTCCCCAAGTGCTGGGATTACAGACATGAGCTATCATGCCCGGCCCCATCTTGCCTCCTTTGTTATGTGTTTAACGTGTCTTCCTCCCTGTGAGTCAGAACCTTTCTTTTTTTTTTTTCTGAAACAGAGTCTCACTCTGTCACCCAGGCTGGAGTGCAGTGGTGAAATCTCCGCTCACTGCAACCTCCACCAACCAGATTCATGCAATTAACCTGCCTTAGCCTCCCGAATAGCTGGGATTACAGGAGTCCGCCGCCACACCCTGCTAATTTTTGTTTTTCTAGTAGAGATGAGGTTTCGCCATGTTGGCCAGGCTGGTCTCCAACTTCTGACCTCAGGTGATCCGCCCACCTCAGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCACACCCAGCCCAGAACCTTTTCAACCTCAGTTAACACTATATCCCCAGCACCCAGAAGAGTACCTAGCACGTAACACACTGATAATAAGTGCATTCCGTCAGCCCAGAATAGGCAATGCCTTCCCTAAGAATGTGAGTGAGCGTGTCACCTGGGAGTGATTAGGGAACTCAAATGCTGCCCACCAGGCCCACAGCCCCTTCTTAAACCCAGTCCCCAAATAGCTAATGCCCCTAGTATACCTATTTGCCTCAAGGCCTGGAAGCTTCACTCCCTCCTTTTTCCCCGTGCCTGTGCTCTCACCTTCCCGGCAGTGTTGGAAGATATATCAACCCAGGTCTCTGCAGCATTGAGCCAGAAGATGCCCAAGTCGCGATGAGGGTTGTGTGCCAGGAGCACAGGCACAGACCCATACAAGGCCATTGGGTTGTACAGCTCATACTGGAACACATCCAAATTGTAGAGGCGATATGGCTCCCCACCCCTGCAGGCAAACAGACAGACTTGGGCTGCTAACTGGCCCCAGGCTGCGTTATATGCTAACACCACTCCACAGACACAGGTGAGAGATAAGCAAAGGCTCCTCTTGTCCTTTCTCAAAAAATTTTCTATCACCAAAGGTGATTCTGGACACAAGAAATGACCCATGCTTGCCTAGAGTATCCAATATGCACACCCATCTCCCTAAAGGCCTGACTCCTTCCTGCCCACCTCCATCTTCCTGATGTCACCATAGGACTCACTCAGTGACCTTCAGCCTCAGGTTGTCTGCATGCTCAGGGATCCCATAGACATGCTCCATGCCTGGCAGAGAGAAG
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Task1_train_15984
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This sequence change occurs on Chromosome 11, altering LBHD1, UQCC3 (LBH domain containing 1| ubiquinol-cytochrome c reductase complex assembly factor 3). What is the medical significance of this variant — is it benign or linked to a disease?
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Pathogenic; Mitochondrial complex III deficiency nuclear type 9
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ACTGGATTCCACCACAATAGACGGCAGATGGGACTTTTGAGAGAAATCCTGAATAGGGACAGCAGGGAGGTTGGGCCAAACTGGAGGGTAAGCCAGCTGCCAGACACAGGCTGAGGAAGTACTAACCTGAATGTGCTGGTGACCTTCAACCTTGCCAATTTTTCCTCTGTCCCAGAGAGGGTTGGGCAGCCTGGGACTTTCTGGATGCTGGGAGGAGCCTGGGCTATTTCTAGTCCAAAGCCCATCCTCCTTGCTTCTCCCTGGCACAAGGGCCATGGTGGTGATTCTTAGAGTGCAAGATGATTGAACTCAGAGGAGAGTACTGCTGCCCAGTGCACCCCACAAACTGTTCCTTTAATCTTCTTTGGAGCCTGGCCCCTTAAGCACCGACTGTGCTAAGCGATTATACGCTTTCAGGGGAGGGGAAAATGCCCAAGAGGTGAGATAGGATCTTTATTTCTACTTACTCCCTGGAGACACTGGGATGGCAACAAGGGTAGGAGACAAGGGCACCTGGATTAAAGCCCTGTGGGCCAAGAGTTGTGATAACCAACTTGGAATTTCCTGACTCCTATGCTTACTGATTTTTCCCAACCTGGTATGTTTGTATGTTATTTAATGAATATTTATATGGTGTTTACTCTTTGGCAGGAGCTGTTTTAATTGCTTTACATATAACTAATTTAATTATCCTAAAACTGTGAGACAAGTACTGTTGTTATAAGCTTCATTTTCTGATGCAGAAACCGGGGCACAAGAACTTGCCTATAATCAGTCACACAGCTAAGAGGTGTTTTCTTCTGTAAAGCAGAATTCAGTATGTTACACGAATCCAGCCTTTTAGTGGTTGAAAACAAAGCAAAACAGCCGGGCGCGGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCCGAGGTGGGCGGATTGGGCGGATCACGAGGTCAGGAGTTCGAGACCAGCCTGACCTACATAGTGAAACTCTTTCTCTACTAAAAATACAAAAAATTAGCCGGCCGTGGTGGCGGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCAGAGCTTGCAGTGAGCCGAGATCACGCCACTGCACTCCAGCTGGGCAACAGAGTGAGACTCTGTCTCAAAAAGCAAAAAAGAAAACGAAGCAAAACAAAAAGCAATACCAGCCGGGCGTGGTGGTGCACGCCTGTAATCCCAGCTATCCGGGAGGTTGAGGCAGGAGGATCGCTTGGGCCCTGGAAGTCGAGGCTTCAGTGAGCCATGATCGCGCCACTGCACTCCAGCCCTGGGCGACAGAGCGAGACCTTGTCTCCAAAAACAAACAAAACCACGCCCACACACTAACAACAACAACAAAACCAAAAAAAAACCCAAACAATACCAAGTGTGTACCATGACGAGAAAAGGAATAGGTTGTTTGTAAAATAAATGTTAAAGATAAGTAACTATTACCCATTTCTCCAACCAGTATACTTGACTTTGAGTGTTTGTTCCAGAGTTGAGGGGATGGAGAGGGATGTGTATGTGTGTAGATGCCCTCCATGCGCTGTGTTGAAAACGCGCGGGTGACTGCAGGAAACCACAGAGCACAGCTCGGGCCTCTACTGATCGGGAAACGTCGGAAGACAGAAAAATGGGCAATCATAAAACCCACGGCAACCATGAAGACACGCACTCTCCCCCTAGCAATCCCACCCCGGAATTGAGGACACAGGGTCCCCGCGCTCAGCCCTTGGTGCCAGCACTTCTTGGACACCTCAACCCCCTCAGCTAAACCTGAGATCCAAGCGCTCCGGATTCCAAACGTTTCCTCGAGCAGGTCCTCTCTAGCCGGCCGCTTATCTATGGTTTCTGCTATAGGGCGCTCTAGCCTGCGCCAAGGGGTAGTGAGACCGCGCGGCAACAGCTTGCGGCTGCGGGGAGCTCCCGTGGGCGCTCCGCTGGCTGTGCAGGCGGCCATGGATTCCTTGCGGAAAATGCTGATCTCAGTCGCAATGCTGGGCGCAGGGGCTGGCGTGGGCTACGCGCTCCTCGTTATCGTGACCCCGGGAGAGCGGCGGAAGCAGGAAATGCTAAAGGTAGAAGCAACTGGTAGTCCCGAGGAAGGGTGGGCGGGTGGAGAGCCCCGGACTGGAGCTCCTGCGAACTCCCCTTCCTGCCCTCAGGAGATGCCACTGCAGGACCCAAGGAGCAGGGAGGAGGCGGCCAGGACCCAGCAGCTATTGCTGGCCACTCTGCAGGAGGCAGCGACCACGCAGGAGAACGTGGCCTGGAGGAAGAACTGGATGGTTGGCGGCGAAGGCGGCGCCGGCGGGAGGTCACCGTGAGACCGGACTTGCCTCCGTGGGCGCCGGACCTTGGCTTGGGCGCAGGAATCCGAGGCAGCCTTTCTCCTTCGTGGGCCCAGCGGAGAGTCCGGACCGAGATACCATGCCAGGACTCTCCGGGGTCCTGTGAGCTGCCGTCGGGTGAGCACGTTTCCCCCAAACCCTGGACTGACTGCTTTAAGGTCCGCAAGGCGGGCCAGGGCCGAGACGCGAGTCGGATGTGGTGAACTGAAAGAACCAATAAAATCATGTTCCTCCACCCAGAATGAGCCCTGCAGTCGACACCTACCAATGCTTAGAGACGCGTGGTCGGTGCTGGGGGCGCGGCCTGGAGCTGCTGCCTGTCCCACCCCACCAGAAGAGGCTGATCCCGATAGGTATCTGACCACATTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCAATGTCACCCAGGCTGGAGTGCAGTGGCACGATCTCGGCTCACTGCAACCTCCGCCCCTGGGTTCCAGCAATTCTCCTGCCTCAGCTTCCCGAGTAGCCGGGATCACAAGTGCGCGCCACCAAGCCCAGCTAACTTTTGTGTTTTTAGTTGAGACAGGGTTCACCATGTTGGCTAGACTGGTCTCGAACTCCAGACCCAGGTGATCCGCCCGCCTCGGCCTCCCAAAGGGCTGGGATTACAGGCGTGAACCACCTCGCCCTGCCGCGGCCACATTTTTTCTTTTTTTTGAGATGGAGTCTTGCTCTTGTCACCCAGGCAGGAGTGCAGTGGCGCAATCTTGGCTCACTGCAACCTCTGCCTCCTGGGTTCAAGCTGTTCTCCTTACTCAGCCTCCCATGTAGCTGGGATTACAGGCGTCCGCAACCACGCCCGGCTGATATTAGTAGTTTTAGTAGAGGCGGGTTTCACCATGTGGCCAGGCTGATCTCGAACTCCTGACCTCAGGCAGTTCACCCGTCTCAGCCTCCCAAAGTGCTGGGATTAGAGGCGTGAGCCACTGCGCCCGGCCAACCACATTTTCAAAACAGGTCATGTGGTGTCAGGTTGGAGTGTACTTCCAGGGATAACCGTGGGACATTCTTGAAATCTGAACTATCCTGGGAAGTCTTGAAGTAATGGATGCCTATAGTGGACACTCAGGACTCCTGTCCTTGGAGCGAGATTGGAGGGGCATCTAGCACTTAACATATGCCACAATGCTTTCTGTGGCCATTATTTAACCTCTGGTTAAACAAGCTTAGGAGGCTGACTTACTAGTAGTAAAAGGAGTGTGCTTTGAGTCACAGATCCTGGTTGAACTCCAGCATGTTACAAACCTCAGCCCTGTTCTATGAAAGGTCATAACTACGAGGATTATTGTAAAACATTAATTTAGAAATGTAAAGTGGTCCCCAATCTCTGGATCTGGTCAGGATTTATTGGAGCTGCCACTGAGGGGATTAAATAAGTGGGGTCAAAGCCCCACAGCCTAGTCAACCAAGTTGCTCCTCTTTTGTCTATCCTGTGGTTCCCAAGCAAGACTGCAATTGAAAAAAAGGCTGCTGTTATTAAAGTCAGAACACCAAATAAAGCTTTTTTTTTTTTTTTGAGACAGAATTTCTGTGTTGTTGCCCACGCTGGAGTGCAATGGAGCGATCTCAACTCAATGCAACCTCCGCCTCCTGGGTTCAAGCGATTCTCCTGCCTCAGCCTCTCCAGTAGCTGGGACTACAGGGGTGCGCCACTATGCCAGGATAATCTTTGTATTTTTAGTA
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ACTGGATTCCACCACAATAGACGGCAGATGGGACTTTTGAGAGAAATCCTGAATAGGGACAGCAGGGAGGTTGGGCCAAACTGGAGGGTAAGCCAGCTGCCAGACACAGGCTGAGGAAGTACTAACCTGAATGTGCTGGTGACCTTCAACCTTGCCAATTTTTCCTCTGTCCCAGAGAGGGTTGGGCAGCCTGGGACTTTCTGGATGCTGGGAGGAGCCTGGGCTATTTCTAGTCCAAAGCCCATCCTCCTTGCTTCTCCCTGGCACAAGGGCCATGGTGGTGATTCTTAGAGTGCAAGATGATTGAACTCAGAGGAGAGTACTGCTGCCCAGTGCACCCCACAAACTGTTCCTTTAATCTTCTTTGGAGCCTGGCCCCTTAAGCACCGACTGTGCTAAGCGATTATACGCTTTCAGGGGAGGGGAAAATGCCCAAGAGGTGAGATAGGATCTTTATTTCTACTTACTCCCTGGAGACACTGGGATGGCAACAAGGGTAGGAGACAAGGGCACCTGGATTAAAGCCCTGTGGGCCAAGAGTTGTGATAACCAACTTGGAATTTCCTGACTCCTATGCTTACTGATTTTTCCCAACCTGGTATGTTTGTATGTTATTTAATGAATATTTATATGGTGTTTACTCTTTGGCAGGAGCTGTTTTAATTGCTTTACATATAACTAATTTAATTATCCTAAAACTGTGAGACAAGTACTGTTGTTATAAGCTTCATTTTCTGATGCAGAAACCGGGGCACAAGAACTTGCCTATAATCAGTCACACAGCTAAGAGGTGTTTTCTTCTGTAAAGCAGAATTCAGTATGTTACACGAATCCAGCCTTTTAGTGGTTGAAAACAAAGCAAAACAGCCGGGCGCGGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCCGAGGTGGGCGGATTGGGCGGATCACGAGGTCAGGAGTTCGAGACCAGCCTGACCTACATAGTGAAACTCTTTCTCTACTAAAAATACAAAAAATTAGCCGGCCGTGGTGGCGGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCAGAGCTTGCAGTGAGCCGAGATCACGCCACTGCACTCCAGCTGGGCAACAGAGTGAGACTCTGTCTCAAAAAGCAAAAAAGAAAACGAAGCAAAACAAAAAGCAATACCAGCCGGGCGTGGTGGTGCACGCCTGTAATCCCAGCTATCCGGGAGGTTGAGGCAGGAGGATCGCTTGGGCCCTGGAAGTCGAGGCTTCAGTGAGCCATGATCGCGCCACTGCACTCCAGCCCTGGGCGACAGAGCGAGACCTTGTCTCCAAAAACAAACAAAACCACGCCCACACACTAACAACAACAACAAAACCAAAAAAAAACCCAAACAATACCAAGTGTGTACCATGACGAGAAAAGGAATAGGTTGTTTGTAAAATAAATGTTAAAGATAAGTAACTATTACCCATTTCTCCAACCAGTATACTTGACTTTGAGTGTTTGTTCCAGAGTTGAGGGGATGGAGAGGGATGTGTATGTGTGTAGATGCCCTCCATGCGCTGTGTTGAAAACGCGCGGGTGACTGCAGGAAACCACAGAGCACAGCTCGGGCCTCTACTGATCGGGAAACGTCGGAAGACAGAAAAATGGGCAATCATAAAACCCACGGCAACCATGAAGACACGCACTCTCCCCCTAGCAATCCCACCCCGGAATTGAGGACACAGGGTCCCCGCGCTCAGCCCTTGGTGCCAGCACTTCTTGGACACCTCAACCCCCTCAGCTAAACCTGAGATCCAAGCGCTCCGGATTCCAAACGTTTCCTCGAGCAGGTCCTCTCTAGCCGGCCGCTTATCTATGGTTTCTGCTATAGGGCGCTCTAGCCTGCGCCAAGGGGTAGTGAGACCGCGCGGCAACAGCTTGCGGCTGCGGGGAGCTCCCGTGGGCGCTCCGCTGGCTGTGCAGGCGGCCATGGATTCCTTGCGGAAAATGCTGATCTCAGTCGCAATGCTGGGCGCAGGGGCTGGCGAGGGCTACGCGCTCCTCGTTATCGTGACCCCGGGAGAGCGGCGGAAGCAGGAAATGCTAAAGGTAGAAGCAACTGGTAGTCCCGAGGAAGGGTGGGCGGGTGGAGAGCCCCGGACTGGAGCTCCTGCGAACTCCCCTTCCTGCCCTCAGGAGATGCCACTGCAGGACCCAAGGAGCAGGGAGGAGGCGGCCAGGACCCAGCAGCTATTGCTGGCCACTCTGCAGGAGGCAGCGACCACGCAGGAGAACGTGGCCTGGAGGAAGAACTGGATGGTTGGCGGCGAAGGCGGCGCCGGCGGGAGGTCACCGTGAGACCGGACTTGCCTCCGTGGGCGCCGGACCTTGGCTTGGGCGCAGGAATCCGAGGCAGCCTTTCTCCTTCGTGGGCCCAGCGGAGAGTCCGGACCGAGATACCATGCCAGGACTCTCCGGGGTCCTGTGAGCTGCCGTCGGGTGAGCACGTTTCCCCCAAACCCTGGACTGACTGCTTTAAGGTCCGCAAGGCGGGCCAGGGCCGAGACGCGAGTCGGATGTGGTGAACTGAAAGAACCAATAAAATCATGTTCCTCCACCCAGAATGAGCCCTGCAGTCGACACCTACCAATGCTTAGAGACGCGTGGTCGGTGCTGGGGGCGCGGCCTGGAGCTGCTGCCTGTCCCACCCCACCAGAAGAGGCTGATCCCGATAGGTATCTGACCACATTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCAATGTCACCCAGGCTGGAGTGCAGTGGCACGATCTCGGCTCACTGCAACCTCCGCCCCTGGGTTCCAGCAATTCTCCTGCCTCAGCTTCCCGAGTAGCCGGGATCACAAGTGCGCGCCACCAAGCCCAGCTAACTTTTGTGTTTTTAGTTGAGACAGGGTTCACCATGTTGGCTAGACTGGTCTCGAACTCCAGACCCAGGTGATCCGCCCGCCTCGGCCTCCCAAAGGGCTGGGATTACAGGCGTGAACCACCTCGCCCTGCCGCGGCCACATTTTTTCTTTTTTTTGAGATGGAGTCTTGCTCTTGTCACCCAGGCAGGAGTGCAGTGGCGCAATCTTGGCTCACTGCAACCTCTGCCTCCTGGGTTCAAGCTGTTCTCCTTACTCAGCCTCCCATGTAGCTGGGATTACAGGCGTCCGCAACCACGCCCGGCTGATATTAGTAGTTTTAGTAGAGGCGGGTTTCACCATGTGGCCAGGCTGATCTCGAACTCCTGACCTCAGGCAGTTCACCCGTCTCAGCCTCCCAAAGTGCTGGGATTAGAGGCGTGAGCCACTGCGCCCGGCCAACCACATTTTCAAAACAGGTCATGTGGTGTCAGGTTGGAGTGTACTTCCAGGGATAACCGTGGGACATTCTTGAAATCTGAACTATCCTGGGAAGTCTTGAAGTAATGGATGCCTATAGTGGACACTCAGGACTCCTGTCCTTGGAGCGAGATTGGAGGGGCATCTAGCACTTAACATATGCCACAATGCTTTCTGTGGCCATTATTTAACCTCTGGTTAAACAAGCTTAGGAGGCTGACTTACTAGTAGTAAAAGGAGTGTGCTTTGAGTCACAGATCCTGGTTGAACTCCAGCATGTTACAAACCTCAGCCCTGTTCTATGAAAGGTCATAACTACGAGGATTATTGTAAAACATTAATTTAGAAATGTAAAGTGGTCCCCAATCTCTGGATCTGGTCAGGATTTATTGGAGCTGCCACTGAGGGGATTAAATAAGTGGGGTCAAAGCCCCACAGCCTAGTCAACCAAGTTGCTCCTCTTTTGTCTATCCTGTGGTTCCCAAGCAAGACTGCAATTGAAAAAAAGGCTGCTGTTATTAAAGTCAGAACACCAAATAAAGCTTTTTTTTTTTTTTTGAGACAGAATTTCTGTGTTGTTGCCCACGCTGGAGTGCAATGGAGCGATCTCAACTCAATGCAACCTCCGCCTCCTGGGTTCAAGCGATTCTCCTGCCTCAGCCTCTCCAGTAGCTGGGACTACAGGGGTGCGCCACTATGCCAGGATAATCTTTGTATTTTTAGTA
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Task1_train_15985
|
Gene BSCL2, HNRNPUL2-BSCL2 (BSCL2 lipid droplet biogenesis associated, seipin| HNRNPUL2-BSCL2 readthrough (NMD candidate)), found on Chromosome 11, is impacted by this variant. What is the biological outcome — benign or pathogenic?
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Pathogenic; Charcot-Marie-Tooth disease type 2
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AGCCTGGCCAACATGATCAAACCCCGTCTCTATTAAAAATACAAAAATCAGCTAGGTATGGTGGCATACGCCTGTAACCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATCGATTGAACCCAGGGGGCAGAGGTTGCAGCGAGCCAAGATCGTGCCATTGCACTGTAGCCTGGGCGACAGGAAAGAAACTCCGTCTCAAATAAATAAATAAATAAATAAAACTTCAGGCTGGGTGTGGTTGCTCACGCATGTAATCCCAGCACTTTTGGAGGCCGAGGTGGGTGGATCACCTGAGGTCAGGAGTTTTAGACCAGCATGACCAACATGGTGAAACCCTGTCTCTGCTAAAAATACAAAAGTTAGCCGGGTGTGGTGGTGGGCACCTGTAATCCCAGGTACTCAGGAGGCTGAGGTGGGAGAATCGCTTGATCCCAGGAGTTGGAGGTTGCAGTGAAGTGAGATCGCGCCACTGCACTCCAGTCTTGGCGACAGAGCAAGACTCTGTCTCAAAAAAAAAAAAAGAACGTATCCTTTATGAGAGCCTCCTCTAGCTTGCCTACTATAGAGGGCCCAGTCCCCATATGCATTTCTCAGGGTTCCCAGGTTTGTTGACATCACACTGGCATCTGGCCAGTCCTCTGGCACAGTACCCTTTGTAATGACACGATGCATATATTTGACAACAGTTTCATAATGTTATATAAATGCTTTCAAAACTCTTGGGTAGATGCCCATCTTATTCCAATGTAATAGCTCATTTGTTCATTTAGGTCTAAAACATTGCTTACTTCACCTAGCAGATATTGCTCACTTTACCTAGCAGATAAATAGATCATACTTCACCTGATACAGATGGTCCTCAGTTTATGATGGGGTTACATTCCGATAAACCCATCTAAGTTGAAACTATCACAAGCTGAAAACGCATTTAGTACACCTAACCTAAAGAACATCATAGCTTACTTAGCCTAGCCTACCTTAAACATGCTCAGAACACTTATGTTAGCCTACCTATAGTTGATTACAATCATCTAACACAAAGCCTATACTTATAATAAAGTAGTGAATATCCCATGTGATTTATTGAATGCTGTACTGAACGTGAAAAACAGGCTGGGCGTGGTGGCTGACGCCTATAATCCCAGCACTTTGGGAGGCGGGCAGATCACAAGGTCAAGAGATCCAGACCATCCTGGCCAACATGGTGAAATCCCATCCCTACTAAAAATACAAAAAAATTAGCTGGGTGTGGTGGCGCGCTCCTGTAGTGCCAGCTACTCGGGAGGCTGAGGCAGGAGAATCGCTTGAACCCAGGAGGTGGAGGTTGCAGTGAGCTGAGATCGCGCCACTGCAATCCAGCCTGGCGACAGAGTGAGACTGTCTGGAAAAAAAAAAAAAAAAAGAAAGAGAGTGAAAAACAGAATGGTTGTATAGGTACCTGAAGTACAGTGTCTAAGGAATGTATGTCGCTTTTGCACCACAGTAAGTTGAAAAATTCTTAAGTTGAATTACCGTAAGTCAGGGACTATGTTGAGAAAGAACATTTCTAACACCTGCTGCAGAAAGATCCATCAATACACACAATTAATTTTAATTTCTTTTCCTTCAAAGCCTTCCTCTTAGTCTCCTTTTTTTTTTTAAGACAGAGCTTCATTCTTGTTGCCCAGGCTGGAGTGCAATGGCGTGATCTCGGCTCACCGAAACCTCCTCCTCCCGGATTCAAGTGATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGATTACAGGCATGCACCACCACGCCCAGCTAATTTTGTATTTTTAGTAGAGACGGGGTTTCTCCGCGTTGGTCAGGCTGGTCTCGAACTCCCAACCTCAGGTGATCTGCCCACCTCAGCCTCCCAAAGTACTGGGATTACAGGCGTGAGCCACCGTGCCCGGCCAGTCTCTTATTACTCAATTCCTTCTCTCTAGGCCTTTCTCAAGTCTTCCTATTTTGAGTCATCAAAGCTCTAATGAAACCTCTCTCTAGTTCCCATACTCACCCGATCACGTCCACCCTTAGTCAGCGAGACATTGGCAACAGGGAAGGAGCAGAGTGAGGTGGTGGAGGAATCACAGTCGGTCCTAAATGAGATTGGAGGAGGATACTCTGCTAAGTTAGTCTTACTAGTCCATCCATACACCTTCTTTGCCCCCTAGGGCTCCCTCCTGCCCTCCTCCCTTCTCTCAGAACAGGCACCCTTCTCTCTGTTACAAAGATGGAGAACAAATGTGGCCAGGAGATTCAAGATACCAGGATTATTTCATTCTCTTCCTATGACTTCAATGTATGTCCTCTCATTACAACAGATGTTCTTAGATGGGAATCTAGAGATACTTAAATAGTTGCATACTTCAGTGTTTCTAAAGACTTAAGGAGCTTGATAAAAATGTAAATTCCAGGGCCAAGCAGCAGCGGCTCACGCCTGTAATCCCAGCACTTTTGGAGGCCGAGGAGGGCGGATCACCTGAGGTCAGGAGTTTAAGACCAGCCTGACCAACATGGAGACACCCCATCTCTACTAAAAATACAAAATTAGCGGGGCGTGGTGGCGCATGCCTGTAATCCCACCTACTCGGGACGCTGAGGCAGAAGAATCGCCTGAACCTGGGAGGCAGAGGTTGTGGTGAGCCAAGATCACGCCACTGCACTCCAGCCTGGGCAACAAGGGTGAAACTCCATCTCAAAAAAAAAAAAAAGGAAATTCCAGGGTCCCACCCCAAGAGATTCTGATTTGGTAGCTCTGGTCTGGGTCCTAGTTTGAGAAAACGCCTCCAAAAGGATCTACAGATGGTTATTAAGAAGCTCATGAACCCCTCCAATTGTAGGCAAATTTGCATGTGGGGGTGTGGGTGCAGCATATGCCTGGGCATGCATATACGTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTTGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCACGATCTCGGCTCACTGCAAGCTCCGCTTCCCAGGTTCACGCCATTTCTCCTGCCTCAGCCTCTCAAGTAGCTGGGACAACAGGCGCCTGCCACCACGCCCGGCTAATTTTTTTATTTTTAGTAGAGACAGGGTTTCACGGTGTTAGCCAGGATAGTCTCAATCTCCTGACCTTGTGATCCGCCTGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACCGCGCCCGGCCGTATATATGTTTTTATGGCAGGAAGGGCCATAAGATCCATTTCCTAAAAGTTTAAGAAGCTCTGCTTTAGAAACTATAGCTCTGGACCAGGGACTTAAGGGAAAAAATGACTTTAAACCATTGATTATAACGCCCTTCTCTGCATCTGTTGATAGGTCCTACAACCACTGTTAAGAAAAGAGAACTAGGCCGGGCGCAGTGGCTCATGCTTGTAATCCCAGCACTTTGGGAGGCCAAGGGGGTGGATCACGAGGTCAGGAGTTCGAGATCAGCCTGGCCAACATAGTGAAACCCCATCTCTACTAAAAATACAAAAAAAAATTAGCCAGGTGTGGTGGCAGGCACCTGTAATCCCAGTTACTTGGGAGGCTGAGGCAAGGCAGGAGAATGGCTTGAATCTGGAGGCAGAGGTTGCAGTGAGCTGAGATTGCGCCACTGCACTCCAGCCCAGGCAACAGCACGAGACTCTGTCTCAAAAAGAAAAAAAAAAAAAAGAAGAAGAAGAAGAGACCTTGGTGGGGCACAGTGGCTCACGTCTGTAATCCCAGCACTTTGGGAGGCCAAGGCGGATGGATCACCTGCATTCAGGAGTTCAAGACCAGCCTAGCCAACATGGTGAAACCCCATCTCCCCAGCACTTTGGGAGGCCAAGGCAGGTGGATCACAAGGTCAGGAGATTGAGACCATCCTGGCTAACAAGGTGAAACCCCATCTCTACTAAAAAAAAAAAAAAAAAAAAAAAAAAATTAGCTGGGTATGGTGGCAGGTGCCTGTAGTACCAGCTACTCAGGAGGCTGAGGCAGGAGAATGGCGTGAGCCCAGGAGGCGGAGCTTGCAGTGAGCCGACATGGCACCACTGCACTCCAGCCTGGGCGACAGAGCAAGACTCC
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AGCCTGGCCAACATGATCAAACCCCGTCTCTATTAAAAATACAAAAATCAGCTAGGTATGGTGGCATACGCCTGTAACCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATCGATTGAACCCAGGGGGCAGAGGTTGCAGCGAGCCAAGATCGTGCCATTGCACTGTAGCCTGGGCGACAGGAAAGAAACTCCGTCTCAAATAAATAAATAAATAAATAAAACTTCAGGCTGGGTGTGGTTGCTCACGCATGTAATCCCAGCACTTTTGGAGGCCGAGGTGGGTGGATCACCTGAGGTCAGGAGTTTTAGACCAGCATGACCAACATGGTGAAACCCTGTCTCTGCTAAAAATACAAAAGTTAGCCGGGTGTGGTGGTGGGCACCTGTAATCCCAGGTACTCAGGAGGCTGAGGTGGGAGAATCGCTTGATCCCAGGAGTTGGAGGTTGCAGTGAAGTGAGATCGCGCCACTGCACTCCAGTCTTGGCGACAGAGCAAGACTCTGTCTCAAAAAAAAAAAAAGAACGTATCCTTTATGAGAGCCTCCTCTAGCTTGCCTACTATAGAGGGCCCAGTCCCCATATGCATTTCTCAGGGTTCCCAGGTTTGTTGACATCACACTGGCATCTGGCCAGTCCTCTGGCACAGTACCCTTTGTAATGACACGATGCATATATTTGACAACAGTTTCATAATGTTATATAAATGCTTTCAAAACTCTTGGGTAGATGCCCATCTTATTCCAATGTAATAGCTCATTTGTTCATTTAGGTCTAAAACATTGCTTACTTCACCTAGCAGATATTGCTCACTTTACCTAGCAGATAAATAGATCATACTTCACCTGATACAGATGGTCCTCAGTTTATGATGGGGTTACATTCCGATAAACCCATCTAAGTTGAAACTATCACAAGCTGAAAACGCATTTAGTACACCTAACCTAAAGAACATCATAGCTTACTTAGCCTAGCCTACCTTAAACATGCTCAGAACACTTATGTTAGCCTACCTATAGTTGATTACAATCATCTAACACAAAGCCTATACTTATAATAAAGTAGTGAATATCCCATGTGATTTATTGAATGCTGTACTGAACGTGAAAAACAGGCTGGGCGTGGTGGCTGACGCCTATAATCCCAGCACTTTGGGAGGCGGGCAGATCACAAGGTCAAGAGATCCAGACCATCCTGGCCAACATGGTGAAATCCCATCCCTACTAAAAATACAAAAAAATTAGCTGGGTGTGGTGGCGCGCTCCTGTAGTGCCAGCTACTCGGGAGGCTGAGGCAGGAGAATCGCTTGAACCCAGGAGGTGGAGGTTGCAGTGAGCTGAGATCGCGCCACTGCAATCCAGCCTGGCGACAGAGTGAGACTGTCTGGAAAAAAAAAAAAAAAAAGAAAGAGAGTGAAAAACAGAATGGTTGTATAGGTACCTGAAGTACAGTGTCTAAGGAATGTATGTCGCTTTTGCACCACAGTAAGTTGAAAAATTCTTAAGTTGAATTACCGTAAGTCAGGGACTATGTTGAGAAAGAACATTTCTAACACCTGCTGCAGAAAGATCCATCAATACACACAATTAATTTTAATTTCTTTTCCTTCAAAGCCTTCCTCTTAGTCTCCTTTTTTTTTTTAAGACAGAGCTTCATTCTTGTTGCCCAGGCTGGAGTGCAATGGCGTGATCTCGGCTCACCGAAACCTCCTCCTCCCGGATTCAAGTGATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGATTACAGGCATGCACCACCACGCCCAGCTAATTTTGTATTTTTAGTAGAGACGGGGTTTCTCCGCGTTGGTCAGGCTGGTCTCGAACTCCCAACCTCAGGTGATCTGCCCACCTCAGCCTCCCAAAGTACTGGGATTACAGGCGTGAGCCACCGTGCCCGGCCAGTCTCTTATTACTCAATTCCTTCTCTCTAGGCCTTTCTCAAGTCTTCCTATTTTGAGTCATCAAAGCTCTAATGAAACCTCTCTCTAGTTCCCATACTCACCCGATCACGTCCACCCTTAGTCAGCCAGACATTGGCAACAGGGAAGGAGCAGAGTGAGGTGGTGGAGGAATCACAGTCGGTCCTAAATGAGATTGGAGGAGGATACTCTGCTAAGTTAGTCTTACTAGTCCATCCATACACCTTCTTTGCCCCCTAGGGCTCCCTCCTGCCCTCCTCCCTTCTCTCAGAACAGGCACCCTTCTCTCTGTTACAAAGATGGAGAACAAATGTGGCCAGGAGATTCAAGATACCAGGATTATTTCATTCTCTTCCTATGACTTCAATGTATGTCCTCTCATTACAACAGATGTTCTTAGATGGGAATCTAGAGATACTTAAATAGTTGCATACTTCAGTGTTTCTAAAGACTTAAGGAGCTTGATAAAAATGTAAATTCCAGGGCCAAGCAGCAGCGGCTCACGCCTGTAATCCCAGCACTTTTGGAGGCCGAGGAGGGCGGATCACCTGAGGTCAGGAGTTTAAGACCAGCCTGACCAACATGGAGACACCCCATCTCTACTAAAAATACAAAATTAGCGGGGCGTGGTGGCGCATGCCTGTAATCCCACCTACTCGGGACGCTGAGGCAGAAGAATCGCCTGAACCTGGGAGGCAGAGGTTGTGGTGAGCCAAGATCACGCCACTGCACTCCAGCCTGGGCAACAAGGGTGAAACTCCATCTCAAAAAAAAAAAAAAGGAAATTCCAGGGTCCCACCCCAAGAGATTCTGATTTGGTAGCTCTGGTCTGGGTCCTAGTTTGAGAAAACGCCTCCAAAAGGATCTACAGATGGTTATTAAGAAGCTCATGAACCCCTCCAATTGTAGGCAAATTTGCATGTGGGGGTGTGGGTGCAGCATATGCCTGGGCATGCATATACGTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTTGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCACGATCTCGGCTCACTGCAAGCTCCGCTTCCCAGGTTCACGCCATTTCTCCTGCCTCAGCCTCTCAAGTAGCTGGGACAACAGGCGCCTGCCACCACGCCCGGCTAATTTTTTTATTTTTAGTAGAGACAGGGTTTCACGGTGTTAGCCAGGATAGTCTCAATCTCCTGACCTTGTGATCCGCCTGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACCGCGCCCGGCCGTATATATGTTTTTATGGCAGGAAGGGCCATAAGATCCATTTCCTAAAAGTTTAAGAAGCTCTGCTTTAGAAACTATAGCTCTGGACCAGGGACTTAAGGGAAAAAATGACTTTAAACCATTGATTATAACGCCCTTCTCTGCATCTGTTGATAGGTCCTACAACCACTGTTAAGAAAAGAGAACTAGGCCGGGCGCAGTGGCTCATGCTTGTAATCCCAGCACTTTGGGAGGCCAAGGGGGTGGATCACGAGGTCAGGAGTTCGAGATCAGCCTGGCCAACATAGTGAAACCCCATCTCTACTAAAAATACAAAAAAAAATTAGCCAGGTGTGGTGGCAGGCACCTGTAATCCCAGTTACTTGGGAGGCTGAGGCAAGGCAGGAGAATGGCTTGAATCTGGAGGCAGAGGTTGCAGTGAGCTGAGATTGCGCCACTGCACTCCAGCCCAGGCAACAGCACGAGACTCTGTCTCAAAAAGAAAAAAAAAAAAAAGAAGAAGAAGAAGAGACCTTGGTGGGGCACAGTGGCTCACGTCTGTAATCCCAGCACTTTGGGAGGCCAAGGCGGATGGATCACCTGCATTCAGGAGTTCAAGACCAGCCTAGCCAACATGGTGAAACCCCATCTCCCCAGCACTTTGGGAGGCCAAGGCAGGTGGATCACAAGGTCAGGAGATTGAGACCATCCTGGCTAACAAGGTGAAACCCCATCTCTACTAAAAAAAAAAAAAAAAAAAAAAAAAAATTAGCTGGGTATGGTGGCAGGTGCCTGTAGTACCAGCTACTCAGGAGGCTGAGGCAGGAGAATGGCGTGAGCCCAGGAGGCGGAGCTTGCAGTGAGCCGACATGGCACCACTGCACTCCAGCCTGGGCGACAGAGCAAGACTCC
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Task1_train_15986
|
The gene BSCL2, HNRNPUL2-BSCL2 (BSCL2 lipid droplet biogenesis associated, seipin| HNRNPUL2-BSCL2 readthrough (NMD candidate)) on Chromosome 11 carries this variant. Does this mutation lead to a specific disease, or is it non-pathogenic?
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Pathogenic; Inborn genetic diseases
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GCCAACATGATCAAACCCCGTCTCTATTAAAAATACAAAAATCAGCTAGGTATGGTGGCATACGCCTGTAACCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATCGATTGAACCCAGGGGGCAGAGGTTGCAGCGAGCCAAGATCGTGCCATTGCACTGTAGCCTGGGCGACAGGAAAGAAACTCCGTCTCAAATAAATAAATAAATAAATAAAACTTCAGGCTGGGTGTGGTTGCTCACGCATGTAATCCCAGCACTTTTGGAGGCCGAGGTGGGTGGATCACCTGAGGTCAGGAGTTTTAGACCAGCATGACCAACATGGTGAAACCCTGTCTCTGCTAAAAATACAAAAGTTAGCCGGGTGTGGTGGTGGGCACCTGTAATCCCAGGTACTCAGGAGGCTGAGGTGGGAGAATCGCTTGATCCCAGGAGTTGGAGGTTGCAGTGAAGTGAGATCGCGCCACTGCACTCCAGTCTTGGCGACAGAGCAAGACTCTGTCTCAAAAAAAAAAAAAGAACGTATCCTTTATGAGAGCCTCCTCTAGCTTGCCTACTATAGAGGGCCCAGTCCCCATATGCATTTCTCAGGGTTCCCAGGTTTGTTGACATCACACTGGCATCTGGCCAGTCCTCTGGCACAGTACCCTTTGTAATGACACGATGCATATATTTGACAACAGTTTCATAATGTTATATAAATGCTTTCAAAACTCTTGGGTAGATGCCCATCTTATTCCAATGTAATAGCTCATTTGTTCATTTAGGTCTAAAACATTGCTTACTTCACCTAGCAGATATTGCTCACTTTACCTAGCAGATAAATAGATCATACTTCACCTGATACAGATGGTCCTCAGTTTATGATGGGGTTACATTCCGATAAACCCATCTAAGTTGAAACTATCACAAGCTGAAAACGCATTTAGTACACCTAACCTAAAGAACATCATAGCTTACTTAGCCTAGCCTACCTTAAACATGCTCAGAACACTTATGTTAGCCTACCTATAGTTGATTACAATCATCTAACACAAAGCCTATACTTATAATAAAGTAGTGAATATCCCATGTGATTTATTGAATGCTGTACTGAACGTGAAAAACAGGCTGGGCGTGGTGGCTGACGCCTATAATCCCAGCACTTTGGGAGGCGGGCAGATCACAAGGTCAAGAGATCCAGACCATCCTGGCCAACATGGTGAAATCCCATCCCTACTAAAAATACAAAAAAATTAGCTGGGTGTGGTGGCGCGCTCCTGTAGTGCCAGCTACTCGGGAGGCTGAGGCAGGAGAATCGCTTGAACCCAGGAGGTGGAGGTTGCAGTGAGCTGAGATCGCGCCACTGCAATCCAGCCTGGCGACAGAGTGAGACTGTCTGGAAAAAAAAAAAAAAAAAGAAAGAGAGTGAAAAACAGAATGGTTGTATAGGTACCTGAAGTACAGTGTCTAAGGAATGTATGTCGCTTTTGCACCACAGTAAGTTGAAAAATTCTTAAGTTGAATTACCGTAAGTCAGGGACTATGTTGAGAAAGAACATTTCTAACACCTGCTGCAGAAAGATCCATCAATACACACAATTAATTTTAATTTCTTTTCCTTCAAAGCCTTCCTCTTAGTCTCCTTTTTTTTTTTAAGACAGAGCTTCATTCTTGTTGCCCAGGCTGGAGTGCAATGGCGTGATCTCGGCTCACCGAAACCTCCTCCTCCCGGATTCAAGTGATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGATTACAGGCATGCACCACCACGCCCAGCTAATTTTGTATTTTTAGTAGAGACGGGGTTTCTCCGCGTTGGTCAGGCTGGTCTCGAACTCCCAACCTCAGGTGATCTGCCCACCTCAGCCTCCCAAAGTACTGGGATTACAGGCGTGAGCCACCGTGCCCGGCCAGTCTCTTATTACTCAATTCCTTCTCTCTAGGCCTTTCTCAAGTCTTCCTATTTTGAGTCATCAAAGCTCTAATGAAACCTCTCTCTAGTTCCCATACTCACCCGATCACGTCCACCCTTAGTCAGCGAGACATTGGCAACAGGGAAGGAGCAGAGTGAGGTGGTGGAGGAATCACAGTCGGTCCTAAATGAGATTGGAGGAGGATACTCTGCTAAGTTAGTCTTACTAGTCCATCCATACACCTTCTTTGCCCCCTAGGGCTCCCTCCTGCCCTCCTCCCTTCTCTCAGAACAGGCACCCTTCTCTCTGTTACAAAGATGGAGAACAAATGTGGCCAGGAGATTCAAGATACCAGGATTATTTCATTCTCTTCCTATGACTTCAATGTATGTCCTCTCATTACAACAGATGTTCTTAGATGGGAATCTAGAGATACTTAAATAGTTGCATACTTCAGTGTTTCTAAAGACTTAAGGAGCTTGATAAAAATGTAAATTCCAGGGCCAAGCAGCAGCGGCTCACGCCTGTAATCCCAGCACTTTTGGAGGCCGAGGAGGGCGGATCACCTGAGGTCAGGAGTTTAAGACCAGCCTGACCAACATGGAGACACCCCATCTCTACTAAAAATACAAAATTAGCGGGGCGTGGTGGCGCATGCCTGTAATCCCACCTACTCGGGACGCTGAGGCAGAAGAATCGCCTGAACCTGGGAGGCAGAGGTTGTGGTGAGCCAAGATCACGCCACTGCACTCCAGCCTGGGCAACAAGGGTGAAACTCCATCTCAAAAAAAAAAAAAAGGAAATTCCAGGGTCCCACCCCAAGAGATTCTGATTTGGTAGCTCTGGTCTGGGTCCTAGTTTGAGAAAACGCCTCCAAAAGGATCTACAGATGGTTATTAAGAAGCTCATGAACCCCTCCAATTGTAGGCAAATTTGCATGTGGGGGTGTGGGTGCAGCATATGCCTGGGCATGCATATACGTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTTGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCACGATCTCGGCTCACTGCAAGCTCCGCTTCCCAGGTTCACGCCATTTCTCCTGCCTCAGCCTCTCAAGTAGCTGGGACAACAGGCGCCTGCCACCACGCCCGGCTAATTTTTTTATTTTTAGTAGAGACAGGGTTTCACGGTGTTAGCCAGGATAGTCTCAATCTCCTGACCTTGTGATCCGCCTGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACCGCGCCCGGCCGTATATATGTTTTTATGGCAGGAAGGGCCATAAGATCCATTTCCTAAAAGTTTAAGAAGCTCTGCTTTAGAAACTATAGCTCTGGACCAGGGACTTAAGGGAAAAAATGACTTTAAACCATTGATTATAACGCCCTTCTCTGCATCTGTTGATAGGTCCTACAACCACTGTTAAGAAAAGAGAACTAGGCCGGGCGCAGTGGCTCATGCTTGTAATCCCAGCACTTTGGGAGGCCAAGGGGGTGGATCACGAGGTCAGGAGTTCGAGATCAGCCTGGCCAACATAGTGAAACCCCATCTCTACTAAAAATACAAAAAAAAATTAGCCAGGTGTGGTGGCAGGCACCTGTAATCCCAGTTACTTGGGAGGCTGAGGCAAGGCAGGAGAATGGCTTGAATCTGGAGGCAGAGGTTGCAGTGAGCTGAGATTGCGCCACTGCACTCCAGCCCAGGCAACAGCACGAGACTCTGTCTCAAAAAGAAAAAAAAAAAAAAGAAGAAGAAGAAGAGACCTTGGTGGGGCACAGTGGCTCACGTCTGTAATCCCAGCACTTTGGGAGGCCAAGGCGGATGGATCACCTGCATTCAGGAGTTCAAGACCAGCCTAGCCAACATGGTGAAACCCCATCTCCCCAGCACTTTGGGAGGCCAAGGCAGGTGGATCACAAGGTCAGGAGATTGAGACCATCCTGGCTAACAAGGTGAAACCCCATCTCTACTAAAAAAAAAAAAAAAAAAAAAAAAAAATTAGCTGGGTATGGTGGCAGGTGCCTGTAGTACCAGCTACTCAGGAGGCTGAGGCAGGAGAATGGCGTGAGCCCAGGAGGCGGAGCTTGCAGTGAGCCGACATGGCACCACTGCACTCCAGCCTGGGCGACAGAGCAAGACTCCATCTCA
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GCCAACATGATCAAACCCCGTCTCTATTAAAAATACAAAAATCAGCTAGGTATGGTGGCATACGCCTGTAACCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATCGATTGAACCCAGGGGGCAGAGGTTGCAGCGAGCCAAGATCGTGCCATTGCACTGTAGCCTGGGCGACAGGAAAGAAACTCCGTCTCAAATAAATAAATAAATAAATAAAACTTCAGGCTGGGTGTGGTTGCTCACGCATGTAATCCCAGCACTTTTGGAGGCCGAGGTGGGTGGATCACCTGAGGTCAGGAGTTTTAGACCAGCATGACCAACATGGTGAAACCCTGTCTCTGCTAAAAATACAAAAGTTAGCCGGGTGTGGTGGTGGGCACCTGTAATCCCAGGTACTCAGGAGGCTGAGGTGGGAGAATCGCTTGATCCCAGGAGTTGGAGGTTGCAGTGAAGTGAGATCGCGCCACTGCACTCCAGTCTTGGCGACAGAGCAAGACTCTGTCTCAAAAAAAAAAAAAGAACGTATCCTTTATGAGAGCCTCCTCTAGCTTGCCTACTATAGAGGGCCCAGTCCCCATATGCATTTCTCAGGGTTCCCAGGTTTGTTGACATCACACTGGCATCTGGCCAGTCCTCTGGCACAGTACCCTTTGTAATGACACGATGCATATATTTGACAACAGTTTCATAATGTTATATAAATGCTTTCAAAACTCTTGGGTAGATGCCCATCTTATTCCAATGTAATAGCTCATTTGTTCATTTAGGTCTAAAACATTGCTTACTTCACCTAGCAGATATTGCTCACTTTACCTAGCAGATAAATAGATCATACTTCACCTGATACAGATGGTCCTCAGTTTATGATGGGGTTACATTCCGATAAACCCATCTAAGTTGAAACTATCACAAGCTGAAAACGCATTTAGTACACCTAACCTAAAGAACATCATAGCTTACTTAGCCTAGCCTACCTTAAACATGCTCAGAACACTTATGTTAGCCTACCTATAGTTGATTACAATCATCTAACACAAAGCCTATACTTATAATAAAGTAGTGAATATCCCATGTGATTTATTGAATGCTGTACTGAACGTGAAAAACAGGCTGGGCGTGGTGGCTGACGCCTATAATCCCAGCACTTTGGGAGGCGGGCAGATCACAAGGTCAAGAGATCCAGACCATCCTGGCCAACATGGTGAAATCCCATCCCTACTAAAAATACAAAAAAATTAGCTGGGTGTGGTGGCGCGCTCCTGTAGTGCCAGCTACTCGGGAGGCTGAGGCAGGAGAATCGCTTGAACCCAGGAGGTGGAGGTTGCAGTGAGCTGAGATCGCGCCACTGCAATCCAGCCTGGCGACAGAGTGAGACTGTCTGGAAAAAAAAAAAAAAAAAGAAAGAGAGTGAAAAACAGAATGGTTGTATAGGTACCTGAAGTACAGTGTCTAAGGAATGTATGTCGCTTTTGCACCACAGTAAGTTGAAAAATTCTTAAGTTGAATTACCGTAAGTCAGGGACTATGTTGAGAAAGAACATTTCTAACACCTGCTGCAGAAAGATCCATCAATACACACAATTAATTTTAATTTCTTTTCCTTCAAAGCCTTCCTCTTAGTCTCCTTTTTTTTTTTAAGACAGAGCTTCATTCTTGTTGCCCAGGCTGGAGTGCAATGGCGTGATCTCGGCTCACCGAAACCTCCTCCTCCCGGATTCAAGTGATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGATTACAGGCATGCACCACCACGCCCAGCTAATTTTGTATTTTTAGTAGAGACGGGGTTTCTCCGCGTTGGTCAGGCTGGTCTCGAACTCCCAACCTCAGGTGATCTGCCCACCTCAGCCTCCCAAAGTACTGGGATTACAGGCGTGAGCCACCGTGCCCGGCCAGTCTCTTATTACTCAATTCCTTCTCTCTAGGCCTTTCTCAAGTCTTCCTATTTTGAGTCATCAAAGCTCTAATGAAACCTCTCTCTAGTTCCCATACTCACCCGATCACGTCCACCCTTAGTCAGCGAGACACTGGCAACAGGGAAGGAGCAGAGTGAGGTGGTGGAGGAATCACAGTCGGTCCTAAATGAGATTGGAGGAGGATACTCTGCTAAGTTAGTCTTACTAGTCCATCCATACACCTTCTTTGCCCCCTAGGGCTCCCTCCTGCCCTCCTCCCTTCTCTCAGAACAGGCACCCTTCTCTCTGTTACAAAGATGGAGAACAAATGTGGCCAGGAGATTCAAGATACCAGGATTATTTCATTCTCTTCCTATGACTTCAATGTATGTCCTCTCATTACAACAGATGTTCTTAGATGGGAATCTAGAGATACTTAAATAGTTGCATACTTCAGTGTTTCTAAAGACTTAAGGAGCTTGATAAAAATGTAAATTCCAGGGCCAAGCAGCAGCGGCTCACGCCTGTAATCCCAGCACTTTTGGAGGCCGAGGAGGGCGGATCACCTGAGGTCAGGAGTTTAAGACCAGCCTGACCAACATGGAGACACCCCATCTCTACTAAAAATACAAAATTAGCGGGGCGTGGTGGCGCATGCCTGTAATCCCACCTACTCGGGACGCTGAGGCAGAAGAATCGCCTGAACCTGGGAGGCAGAGGTTGTGGTGAGCCAAGATCACGCCACTGCACTCCAGCCTGGGCAACAAGGGTGAAACTCCATCTCAAAAAAAAAAAAAAGGAAATTCCAGGGTCCCACCCCAAGAGATTCTGATTTGGTAGCTCTGGTCTGGGTCCTAGTTTGAGAAAACGCCTCCAAAAGGATCTACAGATGGTTATTAAGAAGCTCATGAACCCCTCCAATTGTAGGCAAATTTGCATGTGGGGGTGTGGGTGCAGCATATGCCTGGGCATGCATATACGTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTTGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCACGATCTCGGCTCACTGCAAGCTCCGCTTCCCAGGTTCACGCCATTTCTCCTGCCTCAGCCTCTCAAGTAGCTGGGACAACAGGCGCCTGCCACCACGCCCGGCTAATTTTTTTATTTTTAGTAGAGACAGGGTTTCACGGTGTTAGCCAGGATAGTCTCAATCTCCTGACCTTGTGATCCGCCTGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACCGCGCCCGGCCGTATATATGTTTTTATGGCAGGAAGGGCCATAAGATCCATTTCCTAAAAGTTTAAGAAGCTCTGCTTTAGAAACTATAGCTCTGGACCAGGGACTTAAGGGAAAAAATGACTTTAAACCATTGATTATAACGCCCTTCTCTGCATCTGTTGATAGGTCCTACAACCACTGTTAAGAAAAGAGAACTAGGCCGGGCGCAGTGGCTCATGCTTGTAATCCCAGCACTTTGGGAGGCCAAGGGGGTGGATCACGAGGTCAGGAGTTCGAGATCAGCCTGGCCAACATAGTGAAACCCCATCTCTACTAAAAATACAAAAAAAAATTAGCCAGGTGTGGTGGCAGGCACCTGTAATCCCAGTTACTTGGGAGGCTGAGGCAAGGCAGGAGAATGGCTTGAATCTGGAGGCAGAGGTTGCAGTGAGCTGAGATTGCGCCACTGCACTCCAGCCCAGGCAACAGCACGAGACTCTGTCTCAAAAAGAAAAAAAAAAAAAAGAAGAAGAAGAAGAGACCTTGGTGGGGCACAGTGGCTCACGTCTGTAATCCCAGCACTTTGGGAGGCCAAGGCGGATGGATCACCTGCATTCAGGAGTTCAAGACCAGCCTAGCCAACATGGTGAAACCCCATCTCCCCAGCACTTTGGGAGGCCAAGGCAGGTGGATCACAAGGTCAGGAGATTGAGACCATCCTGGCTAACAAGGTGAAACCCCATCTCTACTAAAAAAAAAAAAAAAAAAAAAAAAAAATTAGCTGGGTATGGTGGCAGGTGCCTGTAGTACCAGCTACTCAGGAGGCTGAGGCAGGAGAATGGCGTGAGCCCAGGAGGCGGAGCTTGCAGTGAGCCGACATGGCACCACTGCACTCCAGCCTGGGCGACAGAGCAAGACTCCATCTCA
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Task1_train_15987
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A variant affecting Chromosome 11, within the gene BSCL2, HNRNPUL2-BSCL2 (BSCL2 lipid droplet biogenesis associated, seipin| HNRNPUL2-BSCL2 readthrough (NMD candidate)), has been observed. Determine if it's benign or associated with disease.
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Pathogenic; Neuronopathy, distal hereditary motor, type 5A
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GCCAACATGATCAAACCCCGTCTCTATTAAAAATACAAAAATCAGCTAGGTATGGTGGCATACGCCTGTAACCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATCGATTGAACCCAGGGGGCAGAGGTTGCAGCGAGCCAAGATCGTGCCATTGCACTGTAGCCTGGGCGACAGGAAAGAAACTCCGTCTCAAATAAATAAATAAATAAATAAAACTTCAGGCTGGGTGTGGTTGCTCACGCATGTAATCCCAGCACTTTTGGAGGCCGAGGTGGGTGGATCACCTGAGGTCAGGAGTTTTAGACCAGCATGACCAACATGGTGAAACCCTGTCTCTGCTAAAAATACAAAAGTTAGCCGGGTGTGGTGGTGGGCACCTGTAATCCCAGGTACTCAGGAGGCTGAGGTGGGAGAATCGCTTGATCCCAGGAGTTGGAGGTTGCAGTGAAGTGAGATCGCGCCACTGCACTCCAGTCTTGGCGACAGAGCAAGACTCTGTCTCAAAAAAAAAAAAAGAACGTATCCTTTATGAGAGCCTCCTCTAGCTTGCCTACTATAGAGGGCCCAGTCCCCATATGCATTTCTCAGGGTTCCCAGGTTTGTTGACATCACACTGGCATCTGGCCAGTCCTCTGGCACAGTACCCTTTGTAATGACACGATGCATATATTTGACAACAGTTTCATAATGTTATATAAATGCTTTCAAAACTCTTGGGTAGATGCCCATCTTATTCCAATGTAATAGCTCATTTGTTCATTTAGGTCTAAAACATTGCTTACTTCACCTAGCAGATATTGCTCACTTTACCTAGCAGATAAATAGATCATACTTCACCTGATACAGATGGTCCTCAGTTTATGATGGGGTTACATTCCGATAAACCCATCTAAGTTGAAACTATCACAAGCTGAAAACGCATTTAGTACACCTAACCTAAAGAACATCATAGCTTACTTAGCCTAGCCTACCTTAAACATGCTCAGAACACTTATGTTAGCCTACCTATAGTTGATTACAATCATCTAACACAAAGCCTATACTTATAATAAAGTAGTGAATATCCCATGTGATTTATTGAATGCTGTACTGAACGTGAAAAACAGGCTGGGCGTGGTGGCTGACGCCTATAATCCCAGCACTTTGGGAGGCGGGCAGATCACAAGGTCAAGAGATCCAGACCATCCTGGCCAACATGGTGAAATCCCATCCCTACTAAAAATACAAAAAAATTAGCTGGGTGTGGTGGCGCGCTCCTGTAGTGCCAGCTACTCGGGAGGCTGAGGCAGGAGAATCGCTTGAACCCAGGAGGTGGAGGTTGCAGTGAGCTGAGATCGCGCCACTGCAATCCAGCCTGGCGACAGAGTGAGACTGTCTGGAAAAAAAAAAAAAAAAAGAAAGAGAGTGAAAAACAGAATGGTTGTATAGGTACCTGAAGTACAGTGTCTAAGGAATGTATGTCGCTTTTGCACCACAGTAAGTTGAAAAATTCTTAAGTTGAATTACCGTAAGTCAGGGACTATGTTGAGAAAGAACATTTCTAACACCTGCTGCAGAAAGATCCATCAATACACACAATTAATTTTAATTTCTTTTCCTTCAAAGCCTTCCTCTTAGTCTCCTTTTTTTTTTTAAGACAGAGCTTCATTCTTGTTGCCCAGGCTGGAGTGCAATGGCGTGATCTCGGCTCACCGAAACCTCCTCCTCCCGGATTCAAGTGATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGATTACAGGCATGCACCACCACGCCCAGCTAATTTTGTATTTTTAGTAGAGACGGGGTTTCTCCGCGTTGGTCAGGCTGGTCTCGAACTCCCAACCTCAGGTGATCTGCCCACCTCAGCCTCCCAAAGTACTGGGATTACAGGCGTGAGCCACCGTGCCCGGCCAGTCTCTTATTACTCAATTCCTTCTCTCTAGGCCTTTCTCAAGTCTTCCTATTTTGAGTCATCAAAGCTCTAATGAAACCTCTCTCTAGTTCCCATACTCACCCGATCACGTCCACCCTTAGTCAGCGAGACATTGGCAACAGGGAAGGAGCAGAGTGAGGTGGTGGAGGAATCACAGTCGGTCCTAAATGAGATTGGAGGAGGATACTCTGCTAAGTTAGTCTTACTAGTCCATCCATACACCTTCTTTGCCCCCTAGGGCTCCCTCCTGCCCTCCTCCCTTCTCTCAGAACAGGCACCCTTCTCTCTGTTACAAAGATGGAGAACAAATGTGGCCAGGAGATTCAAGATACCAGGATTATTTCATTCTCTTCCTATGACTTCAATGTATGTCCTCTCATTACAACAGATGTTCTTAGATGGGAATCTAGAGATACTTAAATAGTTGCATACTTCAGTGTTTCTAAAGACTTAAGGAGCTTGATAAAAATGTAAATTCCAGGGCCAAGCAGCAGCGGCTCACGCCTGTAATCCCAGCACTTTTGGAGGCCGAGGAGGGCGGATCACCTGAGGTCAGGAGTTTAAGACCAGCCTGACCAACATGGAGACACCCCATCTCTACTAAAAATACAAAATTAGCGGGGCGTGGTGGCGCATGCCTGTAATCCCACCTACTCGGGACGCTGAGGCAGAAGAATCGCCTGAACCTGGGAGGCAGAGGTTGTGGTGAGCCAAGATCACGCCACTGCACTCCAGCCTGGGCAACAAGGGTGAAACTCCATCTCAAAAAAAAAAAAAAGGAAATTCCAGGGTCCCACCCCAAGAGATTCTGATTTGGTAGCTCTGGTCTGGGTCCTAGTTTGAGAAAACGCCTCCAAAAGGATCTACAGATGGTTATTAAGAAGCTCATGAACCCCTCCAATTGTAGGCAAATTTGCATGTGGGGGTGTGGGTGCAGCATATGCCTGGGCATGCATATACGTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTTGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCACGATCTCGGCTCACTGCAAGCTCCGCTTCCCAGGTTCACGCCATTTCTCCTGCCTCAGCCTCTCAAGTAGCTGGGACAACAGGCGCCTGCCACCACGCCCGGCTAATTTTTTTATTTTTAGTAGAGACAGGGTTTCACGGTGTTAGCCAGGATAGTCTCAATCTCCTGACCTTGTGATCCGCCTGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACCGCGCCCGGCCGTATATATGTTTTTATGGCAGGAAGGGCCATAAGATCCATTTCCTAAAAGTTTAAGAAGCTCTGCTTTAGAAACTATAGCTCTGGACCAGGGACTTAAGGGAAAAAATGACTTTAAACCATTGATTATAACGCCCTTCTCTGCATCTGTTGATAGGTCCTACAACCACTGTTAAGAAAAGAGAACTAGGCCGGGCGCAGTGGCTCATGCTTGTAATCCCAGCACTTTGGGAGGCCAAGGGGGTGGATCACGAGGTCAGGAGTTCGAGATCAGCCTGGCCAACATAGTGAAACCCCATCTCTACTAAAAATACAAAAAAAAATTAGCCAGGTGTGGTGGCAGGCACCTGTAATCCCAGTTACTTGGGAGGCTGAGGCAAGGCAGGAGAATGGCTTGAATCTGGAGGCAGAGGTTGCAGTGAGCTGAGATTGCGCCACTGCACTCCAGCCCAGGCAACAGCACGAGACTCTGTCTCAAAAAGAAAAAAAAAAAAAAGAAGAAGAAGAAGAGACCTTGGTGGGGCACAGTGGCTCACGTCTGTAATCCCAGCACTTTGGGAGGCCAAGGCGGATGGATCACCTGCATTCAGGAGTTCAAGACCAGCCTAGCCAACATGGTGAAACCCCATCTCCCCAGCACTTTGGGAGGCCAAGGCAGGTGGATCACAAGGTCAGGAGATTGAGACCATCCTGGCTAACAAGGTGAAACCCCATCTCTACTAAAAAAAAAAAAAAAAAAAAAAAAAAATTAGCTGGGTATGGTGGCAGGTGCCTGTAGTACCAGCTACTCAGGAGGCTGAGGCAGGAGAATGGCGTGAGCCCAGGAGGCGGAGCTTGCAGTGAGCCGACATGGCACCACTGCACTCCAGCCTGGGCGACAGAGCAAGACTCCATCTCA
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GCCAACATGATCAAACCCCGTCTCTATTAAAAATACAAAAATCAGCTAGGTATGGTGGCATACGCCTGTAACCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATCGATTGAACCCAGGGGGCAGAGGTTGCAGCGAGCCAAGATCGTGCCATTGCACTGTAGCCTGGGCGACAGGAAAGAAACTCCGTCTCAAATAAATAAATAAATAAATAAAACTTCAGGCTGGGTGTGGTTGCTCACGCATGTAATCCCAGCACTTTTGGAGGCCGAGGTGGGTGGATCACCTGAGGTCAGGAGTTTTAGACCAGCATGACCAACATGGTGAAACCCTGTCTCTGCTAAAAATACAAAAGTTAGCCGGGTGTGGTGGTGGGCACCTGTAATCCCAGGTACTCAGGAGGCTGAGGTGGGAGAATCGCTTGATCCCAGGAGTTGGAGGTTGCAGTGAAGTGAGATCGCGCCACTGCACTCCAGTCTTGGCGACAGAGCAAGACTCTGTCTCAAAAAAAAAAAAAGAACGTATCCTTTATGAGAGCCTCCTCTAGCTTGCCTACTATAGAGGGCCCAGTCCCCATATGCATTTCTCAGGGTTCCCAGGTTTGTTGACATCACACTGGCATCTGGCCAGTCCTCTGGCACAGTACCCTTTGTAATGACACGATGCATATATTTGACAACAGTTTCATAATGTTATATAAATGCTTTCAAAACTCTTGGGTAGATGCCCATCTTATTCCAATGTAATAGCTCATTTGTTCATTTAGGTCTAAAACATTGCTTACTTCACCTAGCAGATATTGCTCACTTTACCTAGCAGATAAATAGATCATACTTCACCTGATACAGATGGTCCTCAGTTTATGATGGGGTTACATTCCGATAAACCCATCTAAGTTGAAACTATCACAAGCTGAAAACGCATTTAGTACACCTAACCTAAAGAACATCATAGCTTACTTAGCCTAGCCTACCTTAAACATGCTCAGAACACTTATGTTAGCCTACCTATAGTTGATTACAATCATCTAACACAAAGCCTATACTTATAATAAAGTAGTGAATATCCCATGTGATTTATTGAATGCTGTACTGAACGTGAAAAACAGGCTGGGCGTGGTGGCTGACGCCTATAATCCCAGCACTTTGGGAGGCGGGCAGATCACAAGGTCAAGAGATCCAGACCATCCTGGCCAACATGGTGAAATCCCATCCCTACTAAAAATACAAAAAAATTAGCTGGGTGTGGTGGCGCGCTCCTGTAGTGCCAGCTACTCGGGAGGCTGAGGCAGGAGAATCGCTTGAACCCAGGAGGTGGAGGTTGCAGTGAGCTGAGATCGCGCCACTGCAATCCAGCCTGGCGACAGAGTGAGACTGTCTGGAAAAAAAAAAAAAAAAAGAAAGAGAGTGAAAAACAGAATGGTTGTATAGGTACCTGAAGTACAGTGTCTAAGGAATGTATGTCGCTTTTGCACCACAGTAAGTTGAAAAATTCTTAAGTTGAATTACCGTAAGTCAGGGACTATGTTGAGAAAGAACATTTCTAACACCTGCTGCAGAAAGATCCATCAATACACACAATTAATTTTAATTTCTTTTCCTTCAAAGCCTTCCTCTTAGTCTCCTTTTTTTTTTTAAGACAGAGCTTCATTCTTGTTGCCCAGGCTGGAGTGCAATGGCGTGATCTCGGCTCACCGAAACCTCCTCCTCCCGGATTCAAGTGATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGATTACAGGCATGCACCACCACGCCCAGCTAATTTTGTATTTTTAGTAGAGACGGGGTTTCTCCGCGTTGGTCAGGCTGGTCTCGAACTCCCAACCTCAGGTGATCTGCCCACCTCAGCCTCCCAAAGTACTGGGATTACAGGCGTGAGCCACCGTGCCCGGCCAGTCTCTTATTACTCAATTCCTTCTCTCTAGGCCTTTCTCAAGTCTTCCTATTTTGAGTCATCAAAGCTCTAATGAAACCTCTCTCTAGTTCCCATACTCACCCGATCACGTCCACCCTTAGTCAGCGAGACACTGGCAACAGGGAAGGAGCAGAGTGAGGTGGTGGAGGAATCACAGTCGGTCCTAAATGAGATTGGAGGAGGATACTCTGCTAAGTTAGTCTTACTAGTCCATCCATACACCTTCTTTGCCCCCTAGGGCTCCCTCCTGCCCTCCTCCCTTCTCTCAGAACAGGCACCCTTCTCTCTGTTACAAAGATGGAGAACAAATGTGGCCAGGAGATTCAAGATACCAGGATTATTTCATTCTCTTCCTATGACTTCAATGTATGTCCTCTCATTACAACAGATGTTCTTAGATGGGAATCTAGAGATACTTAAATAGTTGCATACTTCAGTGTTTCTAAAGACTTAAGGAGCTTGATAAAAATGTAAATTCCAGGGCCAAGCAGCAGCGGCTCACGCCTGTAATCCCAGCACTTTTGGAGGCCGAGGAGGGCGGATCACCTGAGGTCAGGAGTTTAAGACCAGCCTGACCAACATGGAGACACCCCATCTCTACTAAAAATACAAAATTAGCGGGGCGTGGTGGCGCATGCCTGTAATCCCACCTACTCGGGACGCTGAGGCAGAAGAATCGCCTGAACCTGGGAGGCAGAGGTTGTGGTGAGCCAAGATCACGCCACTGCACTCCAGCCTGGGCAACAAGGGTGAAACTCCATCTCAAAAAAAAAAAAAAGGAAATTCCAGGGTCCCACCCCAAGAGATTCTGATTTGGTAGCTCTGGTCTGGGTCCTAGTTTGAGAAAACGCCTCCAAAAGGATCTACAGATGGTTATTAAGAAGCTCATGAACCCCTCCAATTGTAGGCAAATTTGCATGTGGGGGTGTGGGTGCAGCATATGCCTGGGCATGCATATACGTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTTGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCACGATCTCGGCTCACTGCAAGCTCCGCTTCCCAGGTTCACGCCATTTCTCCTGCCTCAGCCTCTCAAGTAGCTGGGACAACAGGCGCCTGCCACCACGCCCGGCTAATTTTTTTATTTTTAGTAGAGACAGGGTTTCACGGTGTTAGCCAGGATAGTCTCAATCTCCTGACCTTGTGATCCGCCTGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACCGCGCCCGGCCGTATATATGTTTTTATGGCAGGAAGGGCCATAAGATCCATTTCCTAAAAGTTTAAGAAGCTCTGCTTTAGAAACTATAGCTCTGGACCAGGGACTTAAGGGAAAAAATGACTTTAAACCATTGATTATAACGCCCTTCTCTGCATCTGTTGATAGGTCCTACAACCACTGTTAAGAAAAGAGAACTAGGCCGGGCGCAGTGGCTCATGCTTGTAATCCCAGCACTTTGGGAGGCCAAGGGGGTGGATCACGAGGTCAGGAGTTCGAGATCAGCCTGGCCAACATAGTGAAACCCCATCTCTACTAAAAATACAAAAAAAAATTAGCCAGGTGTGGTGGCAGGCACCTGTAATCCCAGTTACTTGGGAGGCTGAGGCAAGGCAGGAGAATGGCTTGAATCTGGAGGCAGAGGTTGCAGTGAGCTGAGATTGCGCCACTGCACTCCAGCCCAGGCAACAGCACGAGACTCTGTCTCAAAAAGAAAAAAAAAAAAAAGAAGAAGAAGAAGAGACCTTGGTGGGGCACAGTGGCTCACGTCTGTAATCCCAGCACTTTGGGAGGCCAAGGCGGATGGATCACCTGCATTCAGGAGTTCAAGACCAGCCTAGCCAACATGGTGAAACCCCATCTCCCCAGCACTTTGGGAGGCCAAGGCAGGTGGATCACAAGGTCAGGAGATTGAGACCATCCTGGCTAACAAGGTGAAACCCCATCTCTACTAAAAAAAAAAAAAAAAAAAAAAAAAAATTAGCTGGGTATGGTGGCAGGTGCCTGTAGTACCAGCTACTCAGGAGGCTGAGGCAGGAGAATGGCGTGAGCCCAGGAGGCGGAGCTTGCAGTGAGCCGACATGGCACCACTGCACTCCAGCCTGGGCGACAGAGCAAGACTCCATCTCA
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Task1_train_15988
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This genomic variant is located on Chromosome 11, within the BSCL2, HNRNPUL2-BSCL2 (BSCL2 lipid droplet biogenesis associated, seipin| HNRNPUL2-BSCL2 readthrough (NMD candidate)) gene. Can you determine its pathogenicity and name any linked disease?
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Pathogenic; Charcot-Marie-Tooth disease type 2
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GCCAACATGATCAAACCCCGTCTCTATTAAAAATACAAAAATCAGCTAGGTATGGTGGCATACGCCTGTAACCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATCGATTGAACCCAGGGGGCAGAGGTTGCAGCGAGCCAAGATCGTGCCATTGCACTGTAGCCTGGGCGACAGGAAAGAAACTCCGTCTCAAATAAATAAATAAATAAATAAAACTTCAGGCTGGGTGTGGTTGCTCACGCATGTAATCCCAGCACTTTTGGAGGCCGAGGTGGGTGGATCACCTGAGGTCAGGAGTTTTAGACCAGCATGACCAACATGGTGAAACCCTGTCTCTGCTAAAAATACAAAAGTTAGCCGGGTGTGGTGGTGGGCACCTGTAATCCCAGGTACTCAGGAGGCTGAGGTGGGAGAATCGCTTGATCCCAGGAGTTGGAGGTTGCAGTGAAGTGAGATCGCGCCACTGCACTCCAGTCTTGGCGACAGAGCAAGACTCTGTCTCAAAAAAAAAAAAAGAACGTATCCTTTATGAGAGCCTCCTCTAGCTTGCCTACTATAGAGGGCCCAGTCCCCATATGCATTTCTCAGGGTTCCCAGGTTTGTTGACATCACACTGGCATCTGGCCAGTCCTCTGGCACAGTACCCTTTGTAATGACACGATGCATATATTTGACAACAGTTTCATAATGTTATATAAATGCTTTCAAAACTCTTGGGTAGATGCCCATCTTATTCCAATGTAATAGCTCATTTGTTCATTTAGGTCTAAAACATTGCTTACTTCACCTAGCAGATATTGCTCACTTTACCTAGCAGATAAATAGATCATACTTCACCTGATACAGATGGTCCTCAGTTTATGATGGGGTTACATTCCGATAAACCCATCTAAGTTGAAACTATCACAAGCTGAAAACGCATTTAGTACACCTAACCTAAAGAACATCATAGCTTACTTAGCCTAGCCTACCTTAAACATGCTCAGAACACTTATGTTAGCCTACCTATAGTTGATTACAATCATCTAACACAAAGCCTATACTTATAATAAAGTAGTGAATATCCCATGTGATTTATTGAATGCTGTACTGAACGTGAAAAACAGGCTGGGCGTGGTGGCTGACGCCTATAATCCCAGCACTTTGGGAGGCGGGCAGATCACAAGGTCAAGAGATCCAGACCATCCTGGCCAACATGGTGAAATCCCATCCCTACTAAAAATACAAAAAAATTAGCTGGGTGTGGTGGCGCGCTCCTGTAGTGCCAGCTACTCGGGAGGCTGAGGCAGGAGAATCGCTTGAACCCAGGAGGTGGAGGTTGCAGTGAGCTGAGATCGCGCCACTGCAATCCAGCCTGGCGACAGAGTGAGACTGTCTGGAAAAAAAAAAAAAAAAAGAAAGAGAGTGAAAAACAGAATGGTTGTATAGGTACCTGAAGTACAGTGTCTAAGGAATGTATGTCGCTTTTGCACCACAGTAAGTTGAAAAATTCTTAAGTTGAATTACCGTAAGTCAGGGACTATGTTGAGAAAGAACATTTCTAACACCTGCTGCAGAAAGATCCATCAATACACACAATTAATTTTAATTTCTTTTCCTTCAAAGCCTTCCTCTTAGTCTCCTTTTTTTTTTTAAGACAGAGCTTCATTCTTGTTGCCCAGGCTGGAGTGCAATGGCGTGATCTCGGCTCACCGAAACCTCCTCCTCCCGGATTCAAGTGATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGATTACAGGCATGCACCACCACGCCCAGCTAATTTTGTATTTTTAGTAGAGACGGGGTTTCTCCGCGTTGGTCAGGCTGGTCTCGAACTCCCAACCTCAGGTGATCTGCCCACCTCAGCCTCCCAAAGTACTGGGATTACAGGCGTGAGCCACCGTGCCCGGCCAGTCTCTTATTACTCAATTCCTTCTCTCTAGGCCTTTCTCAAGTCTTCCTATTTTGAGTCATCAAAGCTCTAATGAAACCTCTCTCTAGTTCCCATACTCACCCGATCACGTCCACCCTTAGTCAGCGAGACATTGGCAACAGGGAAGGAGCAGAGTGAGGTGGTGGAGGAATCACAGTCGGTCCTAAATGAGATTGGAGGAGGATACTCTGCTAAGTTAGTCTTACTAGTCCATCCATACACCTTCTTTGCCCCCTAGGGCTCCCTCCTGCCCTCCTCCCTTCTCTCAGAACAGGCACCCTTCTCTCTGTTACAAAGATGGAGAACAAATGTGGCCAGGAGATTCAAGATACCAGGATTATTTCATTCTCTTCCTATGACTTCAATGTATGTCCTCTCATTACAACAGATGTTCTTAGATGGGAATCTAGAGATACTTAAATAGTTGCATACTTCAGTGTTTCTAAAGACTTAAGGAGCTTGATAAAAATGTAAATTCCAGGGCCAAGCAGCAGCGGCTCACGCCTGTAATCCCAGCACTTTTGGAGGCCGAGGAGGGCGGATCACCTGAGGTCAGGAGTTTAAGACCAGCCTGACCAACATGGAGACACCCCATCTCTACTAAAAATACAAAATTAGCGGGGCGTGGTGGCGCATGCCTGTAATCCCACCTACTCGGGACGCTGAGGCAGAAGAATCGCCTGAACCTGGGAGGCAGAGGTTGTGGTGAGCCAAGATCACGCCACTGCACTCCAGCCTGGGCAACAAGGGTGAAACTCCATCTCAAAAAAAAAAAAAAGGAAATTCCAGGGTCCCACCCCAAGAGATTCTGATTTGGTAGCTCTGGTCTGGGTCCTAGTTTGAGAAAACGCCTCCAAAAGGATCTACAGATGGTTATTAAGAAGCTCATGAACCCCTCCAATTGTAGGCAAATTTGCATGTGGGGGTGTGGGTGCAGCATATGCCTGGGCATGCATATACGTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTTGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCACGATCTCGGCTCACTGCAAGCTCCGCTTCCCAGGTTCACGCCATTTCTCCTGCCTCAGCCTCTCAAGTAGCTGGGACAACAGGCGCCTGCCACCACGCCCGGCTAATTTTTTTATTTTTAGTAGAGACAGGGTTTCACGGTGTTAGCCAGGATAGTCTCAATCTCCTGACCTTGTGATCCGCCTGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACCGCGCCCGGCCGTATATATGTTTTTATGGCAGGAAGGGCCATAAGATCCATTTCCTAAAAGTTTAAGAAGCTCTGCTTTAGAAACTATAGCTCTGGACCAGGGACTTAAGGGAAAAAATGACTTTAAACCATTGATTATAACGCCCTTCTCTGCATCTGTTGATAGGTCCTACAACCACTGTTAAGAAAAGAGAACTAGGCCGGGCGCAGTGGCTCATGCTTGTAATCCCAGCACTTTGGGAGGCCAAGGGGGTGGATCACGAGGTCAGGAGTTCGAGATCAGCCTGGCCAACATAGTGAAACCCCATCTCTACTAAAAATACAAAAAAAAATTAGCCAGGTGTGGTGGCAGGCACCTGTAATCCCAGTTACTTGGGAGGCTGAGGCAAGGCAGGAGAATGGCTTGAATCTGGAGGCAGAGGTTGCAGTGAGCTGAGATTGCGCCACTGCACTCCAGCCCAGGCAACAGCACGAGACTCTGTCTCAAAAAGAAAAAAAAAAAAAAGAAGAAGAAGAAGAGACCTTGGTGGGGCACAGTGGCTCACGTCTGTAATCCCAGCACTTTGGGAGGCCAAGGCGGATGGATCACCTGCATTCAGGAGTTCAAGACCAGCCTAGCCAACATGGTGAAACCCCATCTCCCCAGCACTTTGGGAGGCCAAGGCAGGTGGATCACAAGGTCAGGAGATTGAGACCATCCTGGCTAACAAGGTGAAACCCCATCTCTACTAAAAAAAAAAAAAAAAAAAAAAAAAAATTAGCTGGGTATGGTGGCAGGTGCCTGTAGTACCAGCTACTCAGGAGGCTGAGGCAGGAGAATGGCGTGAGCCCAGGAGGCGGAGCTTGCAGTGAGCCGACATGGCACCACTGCACTCCAGCCTGGGCGACAGAGCAAGACTCCATCTCA
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GCCAACATGATCAAACCCCGTCTCTATTAAAAATACAAAAATCAGCTAGGTATGGTGGCATACGCCTGTAACCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATCGATTGAACCCAGGGGGCAGAGGTTGCAGCGAGCCAAGATCGTGCCATTGCACTGTAGCCTGGGCGACAGGAAAGAAACTCCGTCTCAAATAAATAAATAAATAAATAAAACTTCAGGCTGGGTGTGGTTGCTCACGCATGTAATCCCAGCACTTTTGGAGGCCGAGGTGGGTGGATCACCTGAGGTCAGGAGTTTTAGACCAGCATGACCAACATGGTGAAACCCTGTCTCTGCTAAAAATACAAAAGTTAGCCGGGTGTGGTGGTGGGCACCTGTAATCCCAGGTACTCAGGAGGCTGAGGTGGGAGAATCGCTTGATCCCAGGAGTTGGAGGTTGCAGTGAAGTGAGATCGCGCCACTGCACTCCAGTCTTGGCGACAGAGCAAGACTCTGTCTCAAAAAAAAAAAAAGAACGTATCCTTTATGAGAGCCTCCTCTAGCTTGCCTACTATAGAGGGCCCAGTCCCCATATGCATTTCTCAGGGTTCCCAGGTTTGTTGACATCACACTGGCATCTGGCCAGTCCTCTGGCACAGTACCCTTTGTAATGACACGATGCATATATTTGACAACAGTTTCATAATGTTATATAAATGCTTTCAAAACTCTTGGGTAGATGCCCATCTTATTCCAATGTAATAGCTCATTTGTTCATTTAGGTCTAAAACATTGCTTACTTCACCTAGCAGATATTGCTCACTTTACCTAGCAGATAAATAGATCATACTTCACCTGATACAGATGGTCCTCAGTTTATGATGGGGTTACATTCCGATAAACCCATCTAAGTTGAAACTATCACAAGCTGAAAACGCATTTAGTACACCTAACCTAAAGAACATCATAGCTTACTTAGCCTAGCCTACCTTAAACATGCTCAGAACACTTATGTTAGCCTACCTATAGTTGATTACAATCATCTAACACAAAGCCTATACTTATAATAAAGTAGTGAATATCCCATGTGATTTATTGAATGCTGTACTGAACGTGAAAAACAGGCTGGGCGTGGTGGCTGACGCCTATAATCCCAGCACTTTGGGAGGCGGGCAGATCACAAGGTCAAGAGATCCAGACCATCCTGGCCAACATGGTGAAATCCCATCCCTACTAAAAATACAAAAAAATTAGCTGGGTGTGGTGGCGCGCTCCTGTAGTGCCAGCTACTCGGGAGGCTGAGGCAGGAGAATCGCTTGAACCCAGGAGGTGGAGGTTGCAGTGAGCTGAGATCGCGCCACTGCAATCCAGCCTGGCGACAGAGTGAGACTGTCTGGAAAAAAAAAAAAAAAAAGAAAGAGAGTGAAAAACAGAATGGTTGTATAGGTACCTGAAGTACAGTGTCTAAGGAATGTATGTCGCTTTTGCACCACAGTAAGTTGAAAAATTCTTAAGTTGAATTACCGTAAGTCAGGGACTATGTTGAGAAAGAACATTTCTAACACCTGCTGCAGAAAGATCCATCAATACACACAATTAATTTTAATTTCTTTTCCTTCAAAGCCTTCCTCTTAGTCTCCTTTTTTTTTTTAAGACAGAGCTTCATTCTTGTTGCCCAGGCTGGAGTGCAATGGCGTGATCTCGGCTCACCGAAACCTCCTCCTCCCGGATTCAAGTGATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGATTACAGGCATGCACCACCACGCCCAGCTAATTTTGTATTTTTAGTAGAGACGGGGTTTCTCCGCGTTGGTCAGGCTGGTCTCGAACTCCCAACCTCAGGTGATCTGCCCACCTCAGCCTCCCAAAGTACTGGGATTACAGGCGTGAGCCACCGTGCCCGGCCAGTCTCTTATTACTCAATTCCTTCTCTCTAGGCCTTTCTCAAGTCTTCCTATTTTGAGTCATCAAAGCTCTAATGAAACCTCTCTCTAGTTCCCATACTCACCCGATCACGTCCACCCTTAGTCAGCGAGACACTGGCAACAGGGAAGGAGCAGAGTGAGGTGGTGGAGGAATCACAGTCGGTCCTAAATGAGATTGGAGGAGGATACTCTGCTAAGTTAGTCTTACTAGTCCATCCATACACCTTCTTTGCCCCCTAGGGCTCCCTCCTGCCCTCCTCCCTTCTCTCAGAACAGGCACCCTTCTCTCTGTTACAAAGATGGAGAACAAATGTGGCCAGGAGATTCAAGATACCAGGATTATTTCATTCTCTTCCTATGACTTCAATGTATGTCCTCTCATTACAACAGATGTTCTTAGATGGGAATCTAGAGATACTTAAATAGTTGCATACTTCAGTGTTTCTAAAGACTTAAGGAGCTTGATAAAAATGTAAATTCCAGGGCCAAGCAGCAGCGGCTCACGCCTGTAATCCCAGCACTTTTGGAGGCCGAGGAGGGCGGATCACCTGAGGTCAGGAGTTTAAGACCAGCCTGACCAACATGGAGACACCCCATCTCTACTAAAAATACAAAATTAGCGGGGCGTGGTGGCGCATGCCTGTAATCCCACCTACTCGGGACGCTGAGGCAGAAGAATCGCCTGAACCTGGGAGGCAGAGGTTGTGGTGAGCCAAGATCACGCCACTGCACTCCAGCCTGGGCAACAAGGGTGAAACTCCATCTCAAAAAAAAAAAAAAGGAAATTCCAGGGTCCCACCCCAAGAGATTCTGATTTGGTAGCTCTGGTCTGGGTCCTAGTTTGAGAAAACGCCTCCAAAAGGATCTACAGATGGTTATTAAGAAGCTCATGAACCCCTCCAATTGTAGGCAAATTTGCATGTGGGGGTGTGGGTGCAGCATATGCCTGGGCATGCATATACGTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTTGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCACGATCTCGGCTCACTGCAAGCTCCGCTTCCCAGGTTCACGCCATTTCTCCTGCCTCAGCCTCTCAAGTAGCTGGGACAACAGGCGCCTGCCACCACGCCCGGCTAATTTTTTTATTTTTAGTAGAGACAGGGTTTCACGGTGTTAGCCAGGATAGTCTCAATCTCCTGACCTTGTGATCCGCCTGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACCGCGCCCGGCCGTATATATGTTTTTATGGCAGGAAGGGCCATAAGATCCATTTCCTAAAAGTTTAAGAAGCTCTGCTTTAGAAACTATAGCTCTGGACCAGGGACTTAAGGGAAAAAATGACTTTAAACCATTGATTATAACGCCCTTCTCTGCATCTGTTGATAGGTCCTACAACCACTGTTAAGAAAAGAGAACTAGGCCGGGCGCAGTGGCTCATGCTTGTAATCCCAGCACTTTGGGAGGCCAAGGGGGTGGATCACGAGGTCAGGAGTTCGAGATCAGCCTGGCCAACATAGTGAAACCCCATCTCTACTAAAAATACAAAAAAAAATTAGCCAGGTGTGGTGGCAGGCACCTGTAATCCCAGTTACTTGGGAGGCTGAGGCAAGGCAGGAGAATGGCTTGAATCTGGAGGCAGAGGTTGCAGTGAGCTGAGATTGCGCCACTGCACTCCAGCCCAGGCAACAGCACGAGACTCTGTCTCAAAAAGAAAAAAAAAAAAAAGAAGAAGAAGAAGAGACCTTGGTGGGGCACAGTGGCTCACGTCTGTAATCCCAGCACTTTGGGAGGCCAAGGCGGATGGATCACCTGCATTCAGGAGTTCAAGACCAGCCTAGCCAACATGGTGAAACCCCATCTCCCCAGCACTTTGGGAGGCCAAGGCAGGTGGATCACAAGGTCAGGAGATTGAGACCATCCTGGCTAACAAGGTGAAACCCCATCTCTACTAAAAAAAAAAAAAAAAAAAAAAAAAAATTAGCTGGGTATGGTGGCAGGTGCCTGTAGTACCAGCTACTCAGGAGGCTGAGGCAGGAGAATGGCGTGAGCCCAGGAGGCGGAGCTTGCAGTGAGCCGACATGGCACCACTGCACTCCAGCCTGGGCGACAGAGCAAGACTCCATCTCA
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Task1_train_15989
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A variant was discovered in gene BSCL2, HNRNPUL2-BSCL2 (BSCL2 lipid droplet biogenesis associated, seipin| HNRNPUL2-BSCL2 readthrough (NMD candidate)), Chromosome 11. Please indicate if this mutation results in a known disease or if it's non-harmful.
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Pathogenic; not specified
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GCCAACATGATCAAACCCCGTCTCTATTAAAAATACAAAAATCAGCTAGGTATGGTGGCATACGCCTGTAACCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATCGATTGAACCCAGGGGGCAGAGGTTGCAGCGAGCCAAGATCGTGCCATTGCACTGTAGCCTGGGCGACAGGAAAGAAACTCCGTCTCAAATAAATAAATAAATAAATAAAACTTCAGGCTGGGTGTGGTTGCTCACGCATGTAATCCCAGCACTTTTGGAGGCCGAGGTGGGTGGATCACCTGAGGTCAGGAGTTTTAGACCAGCATGACCAACATGGTGAAACCCTGTCTCTGCTAAAAATACAAAAGTTAGCCGGGTGTGGTGGTGGGCACCTGTAATCCCAGGTACTCAGGAGGCTGAGGTGGGAGAATCGCTTGATCCCAGGAGTTGGAGGTTGCAGTGAAGTGAGATCGCGCCACTGCACTCCAGTCTTGGCGACAGAGCAAGACTCTGTCTCAAAAAAAAAAAAAGAACGTATCCTTTATGAGAGCCTCCTCTAGCTTGCCTACTATAGAGGGCCCAGTCCCCATATGCATTTCTCAGGGTTCCCAGGTTTGTTGACATCACACTGGCATCTGGCCAGTCCTCTGGCACAGTACCCTTTGTAATGACACGATGCATATATTTGACAACAGTTTCATAATGTTATATAAATGCTTTCAAAACTCTTGGGTAGATGCCCATCTTATTCCAATGTAATAGCTCATTTGTTCATTTAGGTCTAAAACATTGCTTACTTCACCTAGCAGATATTGCTCACTTTACCTAGCAGATAAATAGATCATACTTCACCTGATACAGATGGTCCTCAGTTTATGATGGGGTTACATTCCGATAAACCCATCTAAGTTGAAACTATCACAAGCTGAAAACGCATTTAGTACACCTAACCTAAAGAACATCATAGCTTACTTAGCCTAGCCTACCTTAAACATGCTCAGAACACTTATGTTAGCCTACCTATAGTTGATTACAATCATCTAACACAAAGCCTATACTTATAATAAAGTAGTGAATATCCCATGTGATTTATTGAATGCTGTACTGAACGTGAAAAACAGGCTGGGCGTGGTGGCTGACGCCTATAATCCCAGCACTTTGGGAGGCGGGCAGATCACAAGGTCAAGAGATCCAGACCATCCTGGCCAACATGGTGAAATCCCATCCCTACTAAAAATACAAAAAAATTAGCTGGGTGTGGTGGCGCGCTCCTGTAGTGCCAGCTACTCGGGAGGCTGAGGCAGGAGAATCGCTTGAACCCAGGAGGTGGAGGTTGCAGTGAGCTGAGATCGCGCCACTGCAATCCAGCCTGGCGACAGAGTGAGACTGTCTGGAAAAAAAAAAAAAAAAAGAAAGAGAGTGAAAAACAGAATGGTTGTATAGGTACCTGAAGTACAGTGTCTAAGGAATGTATGTCGCTTTTGCACCACAGTAAGTTGAAAAATTCTTAAGTTGAATTACCGTAAGTCAGGGACTATGTTGAGAAAGAACATTTCTAACACCTGCTGCAGAAAGATCCATCAATACACACAATTAATTTTAATTTCTTTTCCTTCAAAGCCTTCCTCTTAGTCTCCTTTTTTTTTTTAAGACAGAGCTTCATTCTTGTTGCCCAGGCTGGAGTGCAATGGCGTGATCTCGGCTCACCGAAACCTCCTCCTCCCGGATTCAAGTGATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGATTACAGGCATGCACCACCACGCCCAGCTAATTTTGTATTTTTAGTAGAGACGGGGTTTCTCCGCGTTGGTCAGGCTGGTCTCGAACTCCCAACCTCAGGTGATCTGCCCACCTCAGCCTCCCAAAGTACTGGGATTACAGGCGTGAGCCACCGTGCCCGGCCAGTCTCTTATTACTCAATTCCTTCTCTCTAGGCCTTTCTCAAGTCTTCCTATTTTGAGTCATCAAAGCTCTAATGAAACCTCTCTCTAGTTCCCATACTCACCCGATCACGTCCACCCTTAGTCAGCGAGACATTGGCAACAGGGAAGGAGCAGAGTGAGGTGGTGGAGGAATCACAGTCGGTCCTAAATGAGATTGGAGGAGGATACTCTGCTAAGTTAGTCTTACTAGTCCATCCATACACCTTCTTTGCCCCCTAGGGCTCCCTCCTGCCCTCCTCCCTTCTCTCAGAACAGGCACCCTTCTCTCTGTTACAAAGATGGAGAACAAATGTGGCCAGGAGATTCAAGATACCAGGATTATTTCATTCTCTTCCTATGACTTCAATGTATGTCCTCTCATTACAACAGATGTTCTTAGATGGGAATCTAGAGATACTTAAATAGTTGCATACTTCAGTGTTTCTAAAGACTTAAGGAGCTTGATAAAAATGTAAATTCCAGGGCCAAGCAGCAGCGGCTCACGCCTGTAATCCCAGCACTTTTGGAGGCCGAGGAGGGCGGATCACCTGAGGTCAGGAGTTTAAGACCAGCCTGACCAACATGGAGACACCCCATCTCTACTAAAAATACAAAATTAGCGGGGCGTGGTGGCGCATGCCTGTAATCCCACCTACTCGGGACGCTGAGGCAGAAGAATCGCCTGAACCTGGGAGGCAGAGGTTGTGGTGAGCCAAGATCACGCCACTGCACTCCAGCCTGGGCAACAAGGGTGAAACTCCATCTCAAAAAAAAAAAAAAGGAAATTCCAGGGTCCCACCCCAAGAGATTCTGATTTGGTAGCTCTGGTCTGGGTCCTAGTTTGAGAAAACGCCTCCAAAAGGATCTACAGATGGTTATTAAGAAGCTCATGAACCCCTCCAATTGTAGGCAAATTTGCATGTGGGGGTGTGGGTGCAGCATATGCCTGGGCATGCATATACGTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTTGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCACGATCTCGGCTCACTGCAAGCTCCGCTTCCCAGGTTCACGCCATTTCTCCTGCCTCAGCCTCTCAAGTAGCTGGGACAACAGGCGCCTGCCACCACGCCCGGCTAATTTTTTTATTTTTAGTAGAGACAGGGTTTCACGGTGTTAGCCAGGATAGTCTCAATCTCCTGACCTTGTGATCCGCCTGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACCGCGCCCGGCCGTATATATGTTTTTATGGCAGGAAGGGCCATAAGATCCATTTCCTAAAAGTTTAAGAAGCTCTGCTTTAGAAACTATAGCTCTGGACCAGGGACTTAAGGGAAAAAATGACTTTAAACCATTGATTATAACGCCCTTCTCTGCATCTGTTGATAGGTCCTACAACCACTGTTAAGAAAAGAGAACTAGGCCGGGCGCAGTGGCTCATGCTTGTAATCCCAGCACTTTGGGAGGCCAAGGGGGTGGATCACGAGGTCAGGAGTTCGAGATCAGCCTGGCCAACATAGTGAAACCCCATCTCTACTAAAAATACAAAAAAAAATTAGCCAGGTGTGGTGGCAGGCACCTGTAATCCCAGTTACTTGGGAGGCTGAGGCAAGGCAGGAGAATGGCTTGAATCTGGAGGCAGAGGTTGCAGTGAGCTGAGATTGCGCCACTGCACTCCAGCCCAGGCAACAGCACGAGACTCTGTCTCAAAAAGAAAAAAAAAAAAAAGAAGAAGAAGAAGAGACCTTGGTGGGGCACAGTGGCTCACGTCTGTAATCCCAGCACTTTGGGAGGCCAAGGCGGATGGATCACCTGCATTCAGGAGTTCAAGACCAGCCTAGCCAACATGGTGAAACCCCATCTCCCCAGCACTTTGGGAGGCCAAGGCAGGTGGATCACAAGGTCAGGAGATTGAGACCATCCTGGCTAACAAGGTGAAACCCCATCTCTACTAAAAAAAAAAAAAAAAAAAAAAAAAAATTAGCTGGGTATGGTGGCAGGTGCCTGTAGTACCAGCTACTCAGGAGGCTGAGGCAGGAGAATGGCGTGAGCCCAGGAGGCGGAGCTTGCAGTGAGCCGACATGGCACCACTGCACTCCAGCCTGGGCGACAGAGCAAGACTCCATCTCA
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GCCAACATGATCAAACCCCGTCTCTATTAAAAATACAAAAATCAGCTAGGTATGGTGGCATACGCCTGTAACCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATCGATTGAACCCAGGGGGCAGAGGTTGCAGCGAGCCAAGATCGTGCCATTGCACTGTAGCCTGGGCGACAGGAAAGAAACTCCGTCTCAAATAAATAAATAAATAAATAAAACTTCAGGCTGGGTGTGGTTGCTCACGCATGTAATCCCAGCACTTTTGGAGGCCGAGGTGGGTGGATCACCTGAGGTCAGGAGTTTTAGACCAGCATGACCAACATGGTGAAACCCTGTCTCTGCTAAAAATACAAAAGTTAGCCGGGTGTGGTGGTGGGCACCTGTAATCCCAGGTACTCAGGAGGCTGAGGTGGGAGAATCGCTTGATCCCAGGAGTTGGAGGTTGCAGTGAAGTGAGATCGCGCCACTGCACTCCAGTCTTGGCGACAGAGCAAGACTCTGTCTCAAAAAAAAAAAAAGAACGTATCCTTTATGAGAGCCTCCTCTAGCTTGCCTACTATAGAGGGCCCAGTCCCCATATGCATTTCTCAGGGTTCCCAGGTTTGTTGACATCACACTGGCATCTGGCCAGTCCTCTGGCACAGTACCCTTTGTAATGACACGATGCATATATTTGACAACAGTTTCATAATGTTATATAAATGCTTTCAAAACTCTTGGGTAGATGCCCATCTTATTCCAATGTAATAGCTCATTTGTTCATTTAGGTCTAAAACATTGCTTACTTCACCTAGCAGATATTGCTCACTTTACCTAGCAGATAAATAGATCATACTTCACCTGATACAGATGGTCCTCAGTTTATGATGGGGTTACATTCCGATAAACCCATCTAAGTTGAAACTATCACAAGCTGAAAACGCATTTAGTACACCTAACCTAAAGAACATCATAGCTTACTTAGCCTAGCCTACCTTAAACATGCTCAGAACACTTATGTTAGCCTACCTATAGTTGATTACAATCATCTAACACAAAGCCTATACTTATAATAAAGTAGTGAATATCCCATGTGATTTATTGAATGCTGTACTGAACGTGAAAAACAGGCTGGGCGTGGTGGCTGACGCCTATAATCCCAGCACTTTGGGAGGCGGGCAGATCACAAGGTCAAGAGATCCAGACCATCCTGGCCAACATGGTGAAATCCCATCCCTACTAAAAATACAAAAAAATTAGCTGGGTGTGGTGGCGCGCTCCTGTAGTGCCAGCTACTCGGGAGGCTGAGGCAGGAGAATCGCTTGAACCCAGGAGGTGGAGGTTGCAGTGAGCTGAGATCGCGCCACTGCAATCCAGCCTGGCGACAGAGTGAGACTGTCTGGAAAAAAAAAAAAAAAAAGAAAGAGAGTGAAAAACAGAATGGTTGTATAGGTACCTGAAGTACAGTGTCTAAGGAATGTATGTCGCTTTTGCACCACAGTAAGTTGAAAAATTCTTAAGTTGAATTACCGTAAGTCAGGGACTATGTTGAGAAAGAACATTTCTAACACCTGCTGCAGAAAGATCCATCAATACACACAATTAATTTTAATTTCTTTTCCTTCAAAGCCTTCCTCTTAGTCTCCTTTTTTTTTTTAAGACAGAGCTTCATTCTTGTTGCCCAGGCTGGAGTGCAATGGCGTGATCTCGGCTCACCGAAACCTCCTCCTCCCGGATTCAAGTGATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGATTACAGGCATGCACCACCACGCCCAGCTAATTTTGTATTTTTAGTAGAGACGGGGTTTCTCCGCGTTGGTCAGGCTGGTCTCGAACTCCCAACCTCAGGTGATCTGCCCACCTCAGCCTCCCAAAGTACTGGGATTACAGGCGTGAGCCACCGTGCCCGGCCAGTCTCTTATTACTCAATTCCTTCTCTCTAGGCCTTTCTCAAGTCTTCCTATTTTGAGTCATCAAAGCTCTAATGAAACCTCTCTCTAGTTCCCATACTCACCCGATCACGTCCACCCTTAGTCAGCGAGACACTGGCAACAGGGAAGGAGCAGAGTGAGGTGGTGGAGGAATCACAGTCGGTCCTAAATGAGATTGGAGGAGGATACTCTGCTAAGTTAGTCTTACTAGTCCATCCATACACCTTCTTTGCCCCCTAGGGCTCCCTCCTGCCCTCCTCCCTTCTCTCAGAACAGGCACCCTTCTCTCTGTTACAAAGATGGAGAACAAATGTGGCCAGGAGATTCAAGATACCAGGATTATTTCATTCTCTTCCTATGACTTCAATGTATGTCCTCTCATTACAACAGATGTTCTTAGATGGGAATCTAGAGATACTTAAATAGTTGCATACTTCAGTGTTTCTAAAGACTTAAGGAGCTTGATAAAAATGTAAATTCCAGGGCCAAGCAGCAGCGGCTCACGCCTGTAATCCCAGCACTTTTGGAGGCCGAGGAGGGCGGATCACCTGAGGTCAGGAGTTTAAGACCAGCCTGACCAACATGGAGACACCCCATCTCTACTAAAAATACAAAATTAGCGGGGCGTGGTGGCGCATGCCTGTAATCCCACCTACTCGGGACGCTGAGGCAGAAGAATCGCCTGAACCTGGGAGGCAGAGGTTGTGGTGAGCCAAGATCACGCCACTGCACTCCAGCCTGGGCAACAAGGGTGAAACTCCATCTCAAAAAAAAAAAAAAGGAAATTCCAGGGTCCCACCCCAAGAGATTCTGATTTGGTAGCTCTGGTCTGGGTCCTAGTTTGAGAAAACGCCTCCAAAAGGATCTACAGATGGTTATTAAGAAGCTCATGAACCCCTCCAATTGTAGGCAAATTTGCATGTGGGGGTGTGGGTGCAGCATATGCCTGGGCATGCATATACGTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTTGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCACGATCTCGGCTCACTGCAAGCTCCGCTTCCCAGGTTCACGCCATTTCTCCTGCCTCAGCCTCTCAAGTAGCTGGGACAACAGGCGCCTGCCACCACGCCCGGCTAATTTTTTTATTTTTAGTAGAGACAGGGTTTCACGGTGTTAGCCAGGATAGTCTCAATCTCCTGACCTTGTGATCCGCCTGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACCGCGCCCGGCCGTATATATGTTTTTATGGCAGGAAGGGCCATAAGATCCATTTCCTAAAAGTTTAAGAAGCTCTGCTTTAGAAACTATAGCTCTGGACCAGGGACTTAAGGGAAAAAATGACTTTAAACCATTGATTATAACGCCCTTCTCTGCATCTGTTGATAGGTCCTACAACCACTGTTAAGAAAAGAGAACTAGGCCGGGCGCAGTGGCTCATGCTTGTAATCCCAGCACTTTGGGAGGCCAAGGGGGTGGATCACGAGGTCAGGAGTTCGAGATCAGCCTGGCCAACATAGTGAAACCCCATCTCTACTAAAAATACAAAAAAAAATTAGCCAGGTGTGGTGGCAGGCACCTGTAATCCCAGTTACTTGGGAGGCTGAGGCAAGGCAGGAGAATGGCTTGAATCTGGAGGCAGAGGTTGCAGTGAGCTGAGATTGCGCCACTGCACTCCAGCCCAGGCAACAGCACGAGACTCTGTCTCAAAAAGAAAAAAAAAAAAAAGAAGAAGAAGAAGAGACCTTGGTGGGGCACAGTGGCTCACGTCTGTAATCCCAGCACTTTGGGAGGCCAAGGCGGATGGATCACCTGCATTCAGGAGTTCAAGACCAGCCTAGCCAACATGGTGAAACCCCATCTCCCCAGCACTTTGGGAGGCCAAGGCAGGTGGATCACAAGGTCAGGAGATTGAGACCATCCTGGCTAACAAGGTGAAACCCCATCTCTACTAAAAAAAAAAAAAAAAAAAAAAAAAAATTAGCTGGGTATGGTGGCAGGTGCCTGTAGTACCAGCTACTCAGGAGGCTGAGGCAGGAGAATGGCGTGAGCCCAGGAGGCGGAGCTTGCAGTGAGCCGACATGGCACCACTGCACTCCAGCCTGGGCGACAGAGCAAGACTCCATCTCA
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Task1_train_15990
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This sequence variant lies in BSCL2, HNRNPUL2-BSCL2 (BSCL2 lipid droplet biogenesis associated, seipin| HNRNPUL2-BSCL2 readthrough (NMD candidate)) on Chromosome 11. Is it clinically significant, and what condition might it cause if any?
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Pathogenic; Hereditary spastic paraplegia 17
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GCCAACATGATCAAACCCCGTCTCTATTAAAAATACAAAAATCAGCTAGGTATGGTGGCATACGCCTGTAACCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATCGATTGAACCCAGGGGGCAGAGGTTGCAGCGAGCCAAGATCGTGCCATTGCACTGTAGCCTGGGCGACAGGAAAGAAACTCCGTCTCAAATAAATAAATAAATAAATAAAACTTCAGGCTGGGTGTGGTTGCTCACGCATGTAATCCCAGCACTTTTGGAGGCCGAGGTGGGTGGATCACCTGAGGTCAGGAGTTTTAGACCAGCATGACCAACATGGTGAAACCCTGTCTCTGCTAAAAATACAAAAGTTAGCCGGGTGTGGTGGTGGGCACCTGTAATCCCAGGTACTCAGGAGGCTGAGGTGGGAGAATCGCTTGATCCCAGGAGTTGGAGGTTGCAGTGAAGTGAGATCGCGCCACTGCACTCCAGTCTTGGCGACAGAGCAAGACTCTGTCTCAAAAAAAAAAAAAGAACGTATCCTTTATGAGAGCCTCCTCTAGCTTGCCTACTATAGAGGGCCCAGTCCCCATATGCATTTCTCAGGGTTCCCAGGTTTGTTGACATCACACTGGCATCTGGCCAGTCCTCTGGCACAGTACCCTTTGTAATGACACGATGCATATATTTGACAACAGTTTCATAATGTTATATAAATGCTTTCAAAACTCTTGGGTAGATGCCCATCTTATTCCAATGTAATAGCTCATTTGTTCATTTAGGTCTAAAACATTGCTTACTTCACCTAGCAGATATTGCTCACTTTACCTAGCAGATAAATAGATCATACTTCACCTGATACAGATGGTCCTCAGTTTATGATGGGGTTACATTCCGATAAACCCATCTAAGTTGAAACTATCACAAGCTGAAAACGCATTTAGTACACCTAACCTAAAGAACATCATAGCTTACTTAGCCTAGCCTACCTTAAACATGCTCAGAACACTTATGTTAGCCTACCTATAGTTGATTACAATCATCTAACACAAAGCCTATACTTATAATAAAGTAGTGAATATCCCATGTGATTTATTGAATGCTGTACTGAACGTGAAAAACAGGCTGGGCGTGGTGGCTGACGCCTATAATCCCAGCACTTTGGGAGGCGGGCAGATCACAAGGTCAAGAGATCCAGACCATCCTGGCCAACATGGTGAAATCCCATCCCTACTAAAAATACAAAAAAATTAGCTGGGTGTGGTGGCGCGCTCCTGTAGTGCCAGCTACTCGGGAGGCTGAGGCAGGAGAATCGCTTGAACCCAGGAGGTGGAGGTTGCAGTGAGCTGAGATCGCGCCACTGCAATCCAGCCTGGCGACAGAGTGAGACTGTCTGGAAAAAAAAAAAAAAAAAGAAAGAGAGTGAAAAACAGAATGGTTGTATAGGTACCTGAAGTACAGTGTCTAAGGAATGTATGTCGCTTTTGCACCACAGTAAGTTGAAAAATTCTTAAGTTGAATTACCGTAAGTCAGGGACTATGTTGAGAAAGAACATTTCTAACACCTGCTGCAGAAAGATCCATCAATACACACAATTAATTTTAATTTCTTTTCCTTCAAAGCCTTCCTCTTAGTCTCCTTTTTTTTTTTAAGACAGAGCTTCATTCTTGTTGCCCAGGCTGGAGTGCAATGGCGTGATCTCGGCTCACCGAAACCTCCTCCTCCCGGATTCAAGTGATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGATTACAGGCATGCACCACCACGCCCAGCTAATTTTGTATTTTTAGTAGAGACGGGGTTTCTCCGCGTTGGTCAGGCTGGTCTCGAACTCCCAACCTCAGGTGATCTGCCCACCTCAGCCTCCCAAAGTACTGGGATTACAGGCGTGAGCCACCGTGCCCGGCCAGTCTCTTATTACTCAATTCCTTCTCTCTAGGCCTTTCTCAAGTCTTCCTATTTTGAGTCATCAAAGCTCTAATGAAACCTCTCTCTAGTTCCCATACTCACCCGATCACGTCCACCCTTAGTCAGCGAGACATTGGCAACAGGGAAGGAGCAGAGTGAGGTGGTGGAGGAATCACAGTCGGTCCTAAATGAGATTGGAGGAGGATACTCTGCTAAGTTAGTCTTACTAGTCCATCCATACACCTTCTTTGCCCCCTAGGGCTCCCTCCTGCCCTCCTCCCTTCTCTCAGAACAGGCACCCTTCTCTCTGTTACAAAGATGGAGAACAAATGTGGCCAGGAGATTCAAGATACCAGGATTATTTCATTCTCTTCCTATGACTTCAATGTATGTCCTCTCATTACAACAGATGTTCTTAGATGGGAATCTAGAGATACTTAAATAGTTGCATACTTCAGTGTTTCTAAAGACTTAAGGAGCTTGATAAAAATGTAAATTCCAGGGCCAAGCAGCAGCGGCTCACGCCTGTAATCCCAGCACTTTTGGAGGCCGAGGAGGGCGGATCACCTGAGGTCAGGAGTTTAAGACCAGCCTGACCAACATGGAGACACCCCATCTCTACTAAAAATACAAAATTAGCGGGGCGTGGTGGCGCATGCCTGTAATCCCACCTACTCGGGACGCTGAGGCAGAAGAATCGCCTGAACCTGGGAGGCAGAGGTTGTGGTGAGCCAAGATCACGCCACTGCACTCCAGCCTGGGCAACAAGGGTGAAACTCCATCTCAAAAAAAAAAAAAAGGAAATTCCAGGGTCCCACCCCAAGAGATTCTGATTTGGTAGCTCTGGTCTGGGTCCTAGTTTGAGAAAACGCCTCCAAAAGGATCTACAGATGGTTATTAAGAAGCTCATGAACCCCTCCAATTGTAGGCAAATTTGCATGTGGGGGTGTGGGTGCAGCATATGCCTGGGCATGCATATACGTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTTGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCACGATCTCGGCTCACTGCAAGCTCCGCTTCCCAGGTTCACGCCATTTCTCCTGCCTCAGCCTCTCAAGTAGCTGGGACAACAGGCGCCTGCCACCACGCCCGGCTAATTTTTTTATTTTTAGTAGAGACAGGGTTTCACGGTGTTAGCCAGGATAGTCTCAATCTCCTGACCTTGTGATCCGCCTGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACCGCGCCCGGCCGTATATATGTTTTTATGGCAGGAAGGGCCATAAGATCCATTTCCTAAAAGTTTAAGAAGCTCTGCTTTAGAAACTATAGCTCTGGACCAGGGACTTAAGGGAAAAAATGACTTTAAACCATTGATTATAACGCCCTTCTCTGCATCTGTTGATAGGTCCTACAACCACTGTTAAGAAAAGAGAACTAGGCCGGGCGCAGTGGCTCATGCTTGTAATCCCAGCACTTTGGGAGGCCAAGGGGGTGGATCACGAGGTCAGGAGTTCGAGATCAGCCTGGCCAACATAGTGAAACCCCATCTCTACTAAAAATACAAAAAAAAATTAGCCAGGTGTGGTGGCAGGCACCTGTAATCCCAGTTACTTGGGAGGCTGAGGCAAGGCAGGAGAATGGCTTGAATCTGGAGGCAGAGGTTGCAGTGAGCTGAGATTGCGCCACTGCACTCCAGCCCAGGCAACAGCACGAGACTCTGTCTCAAAAAGAAAAAAAAAAAAAAGAAGAAGAAGAAGAGACCTTGGTGGGGCACAGTGGCTCACGTCTGTAATCCCAGCACTTTGGGAGGCCAAGGCGGATGGATCACCTGCATTCAGGAGTTCAAGACCAGCCTAGCCAACATGGTGAAACCCCATCTCCCCAGCACTTTGGGAGGCCAAGGCAGGTGGATCACAAGGTCAGGAGATTGAGACCATCCTGGCTAACAAGGTGAAACCCCATCTCTACTAAAAAAAAAAAAAAAAAAAAAAAAAAATTAGCTGGGTATGGTGGCAGGTGCCTGTAGTACCAGCTACTCAGGAGGCTGAGGCAGGAGAATGGCGTGAGCCCAGGAGGCGGAGCTTGCAGTGAGCCGACATGGCACCACTGCACTCCAGCCTGGGCGACAGAGCAAGACTCCATCTCA
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GCCAACATGATCAAACCCCGTCTCTATTAAAAATACAAAAATCAGCTAGGTATGGTGGCATACGCCTGTAACCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATCGATTGAACCCAGGGGGCAGAGGTTGCAGCGAGCCAAGATCGTGCCATTGCACTGTAGCCTGGGCGACAGGAAAGAAACTCCGTCTCAAATAAATAAATAAATAAATAAAACTTCAGGCTGGGTGTGGTTGCTCACGCATGTAATCCCAGCACTTTTGGAGGCCGAGGTGGGTGGATCACCTGAGGTCAGGAGTTTTAGACCAGCATGACCAACATGGTGAAACCCTGTCTCTGCTAAAAATACAAAAGTTAGCCGGGTGTGGTGGTGGGCACCTGTAATCCCAGGTACTCAGGAGGCTGAGGTGGGAGAATCGCTTGATCCCAGGAGTTGGAGGTTGCAGTGAAGTGAGATCGCGCCACTGCACTCCAGTCTTGGCGACAGAGCAAGACTCTGTCTCAAAAAAAAAAAAAGAACGTATCCTTTATGAGAGCCTCCTCTAGCTTGCCTACTATAGAGGGCCCAGTCCCCATATGCATTTCTCAGGGTTCCCAGGTTTGTTGACATCACACTGGCATCTGGCCAGTCCTCTGGCACAGTACCCTTTGTAATGACACGATGCATATATTTGACAACAGTTTCATAATGTTATATAAATGCTTTCAAAACTCTTGGGTAGATGCCCATCTTATTCCAATGTAATAGCTCATTTGTTCATTTAGGTCTAAAACATTGCTTACTTCACCTAGCAGATATTGCTCACTTTACCTAGCAGATAAATAGATCATACTTCACCTGATACAGATGGTCCTCAGTTTATGATGGGGTTACATTCCGATAAACCCATCTAAGTTGAAACTATCACAAGCTGAAAACGCATTTAGTACACCTAACCTAAAGAACATCATAGCTTACTTAGCCTAGCCTACCTTAAACATGCTCAGAACACTTATGTTAGCCTACCTATAGTTGATTACAATCATCTAACACAAAGCCTATACTTATAATAAAGTAGTGAATATCCCATGTGATTTATTGAATGCTGTACTGAACGTGAAAAACAGGCTGGGCGTGGTGGCTGACGCCTATAATCCCAGCACTTTGGGAGGCGGGCAGATCACAAGGTCAAGAGATCCAGACCATCCTGGCCAACATGGTGAAATCCCATCCCTACTAAAAATACAAAAAAATTAGCTGGGTGTGGTGGCGCGCTCCTGTAGTGCCAGCTACTCGGGAGGCTGAGGCAGGAGAATCGCTTGAACCCAGGAGGTGGAGGTTGCAGTGAGCTGAGATCGCGCCACTGCAATCCAGCCTGGCGACAGAGTGAGACTGTCTGGAAAAAAAAAAAAAAAAAGAAAGAGAGTGAAAAACAGAATGGTTGTATAGGTACCTGAAGTACAGTGTCTAAGGAATGTATGTCGCTTTTGCACCACAGTAAGTTGAAAAATTCTTAAGTTGAATTACCGTAAGTCAGGGACTATGTTGAGAAAGAACATTTCTAACACCTGCTGCAGAAAGATCCATCAATACACACAATTAATTTTAATTTCTTTTCCTTCAAAGCCTTCCTCTTAGTCTCCTTTTTTTTTTTAAGACAGAGCTTCATTCTTGTTGCCCAGGCTGGAGTGCAATGGCGTGATCTCGGCTCACCGAAACCTCCTCCTCCCGGATTCAAGTGATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGATTACAGGCATGCACCACCACGCCCAGCTAATTTTGTATTTTTAGTAGAGACGGGGTTTCTCCGCGTTGGTCAGGCTGGTCTCGAACTCCCAACCTCAGGTGATCTGCCCACCTCAGCCTCCCAAAGTACTGGGATTACAGGCGTGAGCCACCGTGCCCGGCCAGTCTCTTATTACTCAATTCCTTCTCTCTAGGCCTTTCTCAAGTCTTCCTATTTTGAGTCATCAAAGCTCTAATGAAACCTCTCTCTAGTTCCCATACTCACCCGATCACGTCCACCCTTAGTCAGCGAGACACTGGCAACAGGGAAGGAGCAGAGTGAGGTGGTGGAGGAATCACAGTCGGTCCTAAATGAGATTGGAGGAGGATACTCTGCTAAGTTAGTCTTACTAGTCCATCCATACACCTTCTTTGCCCCCTAGGGCTCCCTCCTGCCCTCCTCCCTTCTCTCAGAACAGGCACCCTTCTCTCTGTTACAAAGATGGAGAACAAATGTGGCCAGGAGATTCAAGATACCAGGATTATTTCATTCTCTTCCTATGACTTCAATGTATGTCCTCTCATTACAACAGATGTTCTTAGATGGGAATCTAGAGATACTTAAATAGTTGCATACTTCAGTGTTTCTAAAGACTTAAGGAGCTTGATAAAAATGTAAATTCCAGGGCCAAGCAGCAGCGGCTCACGCCTGTAATCCCAGCACTTTTGGAGGCCGAGGAGGGCGGATCACCTGAGGTCAGGAGTTTAAGACCAGCCTGACCAACATGGAGACACCCCATCTCTACTAAAAATACAAAATTAGCGGGGCGTGGTGGCGCATGCCTGTAATCCCACCTACTCGGGACGCTGAGGCAGAAGAATCGCCTGAACCTGGGAGGCAGAGGTTGTGGTGAGCCAAGATCACGCCACTGCACTCCAGCCTGGGCAACAAGGGTGAAACTCCATCTCAAAAAAAAAAAAAAGGAAATTCCAGGGTCCCACCCCAAGAGATTCTGATTTGGTAGCTCTGGTCTGGGTCCTAGTTTGAGAAAACGCCTCCAAAAGGATCTACAGATGGTTATTAAGAAGCTCATGAACCCCTCCAATTGTAGGCAAATTTGCATGTGGGGGTGTGGGTGCAGCATATGCCTGGGCATGCATATACGTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTTGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCACGATCTCGGCTCACTGCAAGCTCCGCTTCCCAGGTTCACGCCATTTCTCCTGCCTCAGCCTCTCAAGTAGCTGGGACAACAGGCGCCTGCCACCACGCCCGGCTAATTTTTTTATTTTTAGTAGAGACAGGGTTTCACGGTGTTAGCCAGGATAGTCTCAATCTCCTGACCTTGTGATCCGCCTGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACCGCGCCCGGCCGTATATATGTTTTTATGGCAGGAAGGGCCATAAGATCCATTTCCTAAAAGTTTAAGAAGCTCTGCTTTAGAAACTATAGCTCTGGACCAGGGACTTAAGGGAAAAAATGACTTTAAACCATTGATTATAACGCCCTTCTCTGCATCTGTTGATAGGTCCTACAACCACTGTTAAGAAAAGAGAACTAGGCCGGGCGCAGTGGCTCATGCTTGTAATCCCAGCACTTTGGGAGGCCAAGGGGGTGGATCACGAGGTCAGGAGTTCGAGATCAGCCTGGCCAACATAGTGAAACCCCATCTCTACTAAAAATACAAAAAAAAATTAGCCAGGTGTGGTGGCAGGCACCTGTAATCCCAGTTACTTGGGAGGCTGAGGCAAGGCAGGAGAATGGCTTGAATCTGGAGGCAGAGGTTGCAGTGAGCTGAGATTGCGCCACTGCACTCCAGCCCAGGCAACAGCACGAGACTCTGTCTCAAAAAGAAAAAAAAAAAAAAGAAGAAGAAGAAGAGACCTTGGTGGGGCACAGTGGCTCACGTCTGTAATCCCAGCACTTTGGGAGGCCAAGGCGGATGGATCACCTGCATTCAGGAGTTCAAGACCAGCCTAGCCAACATGGTGAAACCCCATCTCCCCAGCACTTTGGGAGGCCAAGGCAGGTGGATCACAAGGTCAGGAGATTGAGACCATCCTGGCTAACAAGGTGAAACCCCATCTCTACTAAAAAAAAAAAAAAAAAAAAAAAAAAATTAGCTGGGTATGGTGGCAGGTGCCTGTAGTACCAGCTACTCAGGAGGCTGAGGCAGGAGAATGGCGTGAGCCCAGGAGGCGGAGCTTGCAGTGAGCCGACATGGCACCACTGCACTCCAGCCTGGGCGACAGAGCAAGACTCCATCTCA
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Task1_train_15991
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Gene BSCL2, HNRNPUL2-BSCL2 (BSCL2 lipid droplet biogenesis associated, seipin| HNRNPUL2-BSCL2 readthrough (NMD candidate)) on Chromosome 11 is impacted by this variant. Evaluate whether it is clinically benign or pathogenic and name the disorder if relevant.
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Pathogenic; Neuronopathy, distal hereditary motor, type 5C
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GCCAACATGATCAAACCCCGTCTCTATTAAAAATACAAAAATCAGCTAGGTATGGTGGCATACGCCTGTAACCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATCGATTGAACCCAGGGGGCAGAGGTTGCAGCGAGCCAAGATCGTGCCATTGCACTGTAGCCTGGGCGACAGGAAAGAAACTCCGTCTCAAATAAATAAATAAATAAATAAAACTTCAGGCTGGGTGTGGTTGCTCACGCATGTAATCCCAGCACTTTTGGAGGCCGAGGTGGGTGGATCACCTGAGGTCAGGAGTTTTAGACCAGCATGACCAACATGGTGAAACCCTGTCTCTGCTAAAAATACAAAAGTTAGCCGGGTGTGGTGGTGGGCACCTGTAATCCCAGGTACTCAGGAGGCTGAGGTGGGAGAATCGCTTGATCCCAGGAGTTGGAGGTTGCAGTGAAGTGAGATCGCGCCACTGCACTCCAGTCTTGGCGACAGAGCAAGACTCTGTCTCAAAAAAAAAAAAAGAACGTATCCTTTATGAGAGCCTCCTCTAGCTTGCCTACTATAGAGGGCCCAGTCCCCATATGCATTTCTCAGGGTTCCCAGGTTTGTTGACATCACACTGGCATCTGGCCAGTCCTCTGGCACAGTACCCTTTGTAATGACACGATGCATATATTTGACAACAGTTTCATAATGTTATATAAATGCTTTCAAAACTCTTGGGTAGATGCCCATCTTATTCCAATGTAATAGCTCATTTGTTCATTTAGGTCTAAAACATTGCTTACTTCACCTAGCAGATATTGCTCACTTTACCTAGCAGATAAATAGATCATACTTCACCTGATACAGATGGTCCTCAGTTTATGATGGGGTTACATTCCGATAAACCCATCTAAGTTGAAACTATCACAAGCTGAAAACGCATTTAGTACACCTAACCTAAAGAACATCATAGCTTACTTAGCCTAGCCTACCTTAAACATGCTCAGAACACTTATGTTAGCCTACCTATAGTTGATTACAATCATCTAACACAAAGCCTATACTTATAATAAAGTAGTGAATATCCCATGTGATTTATTGAATGCTGTACTGAACGTGAAAAACAGGCTGGGCGTGGTGGCTGACGCCTATAATCCCAGCACTTTGGGAGGCGGGCAGATCACAAGGTCAAGAGATCCAGACCATCCTGGCCAACATGGTGAAATCCCATCCCTACTAAAAATACAAAAAAATTAGCTGGGTGTGGTGGCGCGCTCCTGTAGTGCCAGCTACTCGGGAGGCTGAGGCAGGAGAATCGCTTGAACCCAGGAGGTGGAGGTTGCAGTGAGCTGAGATCGCGCCACTGCAATCCAGCCTGGCGACAGAGTGAGACTGTCTGGAAAAAAAAAAAAAAAAAGAAAGAGAGTGAAAAACAGAATGGTTGTATAGGTACCTGAAGTACAGTGTCTAAGGAATGTATGTCGCTTTTGCACCACAGTAAGTTGAAAAATTCTTAAGTTGAATTACCGTAAGTCAGGGACTATGTTGAGAAAGAACATTTCTAACACCTGCTGCAGAAAGATCCATCAATACACACAATTAATTTTAATTTCTTTTCCTTCAAAGCCTTCCTCTTAGTCTCCTTTTTTTTTTTAAGACAGAGCTTCATTCTTGTTGCCCAGGCTGGAGTGCAATGGCGTGATCTCGGCTCACCGAAACCTCCTCCTCCCGGATTCAAGTGATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGATTACAGGCATGCACCACCACGCCCAGCTAATTTTGTATTTTTAGTAGAGACGGGGTTTCTCCGCGTTGGTCAGGCTGGTCTCGAACTCCCAACCTCAGGTGATCTGCCCACCTCAGCCTCCCAAAGTACTGGGATTACAGGCGTGAGCCACCGTGCCCGGCCAGTCTCTTATTACTCAATTCCTTCTCTCTAGGCCTTTCTCAAGTCTTCCTATTTTGAGTCATCAAAGCTCTAATGAAACCTCTCTCTAGTTCCCATACTCACCCGATCACGTCCACCCTTAGTCAGCGAGACATTGGCAACAGGGAAGGAGCAGAGTGAGGTGGTGGAGGAATCACAGTCGGTCCTAAATGAGATTGGAGGAGGATACTCTGCTAAGTTAGTCTTACTAGTCCATCCATACACCTTCTTTGCCCCCTAGGGCTCCCTCCTGCCCTCCTCCCTTCTCTCAGAACAGGCACCCTTCTCTCTGTTACAAAGATGGAGAACAAATGTGGCCAGGAGATTCAAGATACCAGGATTATTTCATTCTCTTCCTATGACTTCAATGTATGTCCTCTCATTACAACAGATGTTCTTAGATGGGAATCTAGAGATACTTAAATAGTTGCATACTTCAGTGTTTCTAAAGACTTAAGGAGCTTGATAAAAATGTAAATTCCAGGGCCAAGCAGCAGCGGCTCACGCCTGTAATCCCAGCACTTTTGGAGGCCGAGGAGGGCGGATCACCTGAGGTCAGGAGTTTAAGACCAGCCTGACCAACATGGAGACACCCCATCTCTACTAAAAATACAAAATTAGCGGGGCGTGGTGGCGCATGCCTGTAATCCCACCTACTCGGGACGCTGAGGCAGAAGAATCGCCTGAACCTGGGAGGCAGAGGTTGTGGTGAGCCAAGATCACGCCACTGCACTCCAGCCTGGGCAACAAGGGTGAAACTCCATCTCAAAAAAAAAAAAAAGGAAATTCCAGGGTCCCACCCCAAGAGATTCTGATTTGGTAGCTCTGGTCTGGGTCCTAGTTTGAGAAAACGCCTCCAAAAGGATCTACAGATGGTTATTAAGAAGCTCATGAACCCCTCCAATTGTAGGCAAATTTGCATGTGGGGGTGTGGGTGCAGCATATGCCTGGGCATGCATATACGTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTTGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCACGATCTCGGCTCACTGCAAGCTCCGCTTCCCAGGTTCACGCCATTTCTCCTGCCTCAGCCTCTCAAGTAGCTGGGACAACAGGCGCCTGCCACCACGCCCGGCTAATTTTTTTATTTTTAGTAGAGACAGGGTTTCACGGTGTTAGCCAGGATAGTCTCAATCTCCTGACCTTGTGATCCGCCTGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACCGCGCCCGGCCGTATATATGTTTTTATGGCAGGAAGGGCCATAAGATCCATTTCCTAAAAGTTTAAGAAGCTCTGCTTTAGAAACTATAGCTCTGGACCAGGGACTTAAGGGAAAAAATGACTTTAAACCATTGATTATAACGCCCTTCTCTGCATCTGTTGATAGGTCCTACAACCACTGTTAAGAAAAGAGAACTAGGCCGGGCGCAGTGGCTCATGCTTGTAATCCCAGCACTTTGGGAGGCCAAGGGGGTGGATCACGAGGTCAGGAGTTCGAGATCAGCCTGGCCAACATAGTGAAACCCCATCTCTACTAAAAATACAAAAAAAAATTAGCCAGGTGTGGTGGCAGGCACCTGTAATCCCAGTTACTTGGGAGGCTGAGGCAAGGCAGGAGAATGGCTTGAATCTGGAGGCAGAGGTTGCAGTGAGCTGAGATTGCGCCACTGCACTCCAGCCCAGGCAACAGCACGAGACTCTGTCTCAAAAAGAAAAAAAAAAAAAAGAAGAAGAAGAAGAGACCTTGGTGGGGCACAGTGGCTCACGTCTGTAATCCCAGCACTTTGGGAGGCCAAGGCGGATGGATCACCTGCATTCAGGAGTTCAAGACCAGCCTAGCCAACATGGTGAAACCCCATCTCCCCAGCACTTTGGGAGGCCAAGGCAGGTGGATCACAAGGTCAGGAGATTGAGACCATCCTGGCTAACAAGGTGAAACCCCATCTCTACTAAAAAAAAAAAAAAAAAAAAAAAAAAATTAGCTGGGTATGGTGGCAGGTGCCTGTAGTACCAGCTACTCAGGAGGCTGAGGCAGGAGAATGGCGTGAGCCCAGGAGGCGGAGCTTGCAGTGAGCCGACATGGCACCACTGCACTCCAGCCTGGGCGACAGAGCAAGACTCCATCTCA
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GCCAACATGATCAAACCCCGTCTCTATTAAAAATACAAAAATCAGCTAGGTATGGTGGCATACGCCTGTAACCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATCGATTGAACCCAGGGGGCAGAGGTTGCAGCGAGCCAAGATCGTGCCATTGCACTGTAGCCTGGGCGACAGGAAAGAAACTCCGTCTCAAATAAATAAATAAATAAATAAAACTTCAGGCTGGGTGTGGTTGCTCACGCATGTAATCCCAGCACTTTTGGAGGCCGAGGTGGGTGGATCACCTGAGGTCAGGAGTTTTAGACCAGCATGACCAACATGGTGAAACCCTGTCTCTGCTAAAAATACAAAAGTTAGCCGGGTGTGGTGGTGGGCACCTGTAATCCCAGGTACTCAGGAGGCTGAGGTGGGAGAATCGCTTGATCCCAGGAGTTGGAGGTTGCAGTGAAGTGAGATCGCGCCACTGCACTCCAGTCTTGGCGACAGAGCAAGACTCTGTCTCAAAAAAAAAAAAAGAACGTATCCTTTATGAGAGCCTCCTCTAGCTTGCCTACTATAGAGGGCCCAGTCCCCATATGCATTTCTCAGGGTTCCCAGGTTTGTTGACATCACACTGGCATCTGGCCAGTCCTCTGGCACAGTACCCTTTGTAATGACACGATGCATATATTTGACAACAGTTTCATAATGTTATATAAATGCTTTCAAAACTCTTGGGTAGATGCCCATCTTATTCCAATGTAATAGCTCATTTGTTCATTTAGGTCTAAAACATTGCTTACTTCACCTAGCAGATATTGCTCACTTTACCTAGCAGATAAATAGATCATACTTCACCTGATACAGATGGTCCTCAGTTTATGATGGGGTTACATTCCGATAAACCCATCTAAGTTGAAACTATCACAAGCTGAAAACGCATTTAGTACACCTAACCTAAAGAACATCATAGCTTACTTAGCCTAGCCTACCTTAAACATGCTCAGAACACTTATGTTAGCCTACCTATAGTTGATTACAATCATCTAACACAAAGCCTATACTTATAATAAAGTAGTGAATATCCCATGTGATTTATTGAATGCTGTACTGAACGTGAAAAACAGGCTGGGCGTGGTGGCTGACGCCTATAATCCCAGCACTTTGGGAGGCGGGCAGATCACAAGGTCAAGAGATCCAGACCATCCTGGCCAACATGGTGAAATCCCATCCCTACTAAAAATACAAAAAAATTAGCTGGGTGTGGTGGCGCGCTCCTGTAGTGCCAGCTACTCGGGAGGCTGAGGCAGGAGAATCGCTTGAACCCAGGAGGTGGAGGTTGCAGTGAGCTGAGATCGCGCCACTGCAATCCAGCCTGGCGACAGAGTGAGACTGTCTGGAAAAAAAAAAAAAAAAAGAAAGAGAGTGAAAAACAGAATGGTTGTATAGGTACCTGAAGTACAGTGTCTAAGGAATGTATGTCGCTTTTGCACCACAGTAAGTTGAAAAATTCTTAAGTTGAATTACCGTAAGTCAGGGACTATGTTGAGAAAGAACATTTCTAACACCTGCTGCAGAAAGATCCATCAATACACACAATTAATTTTAATTTCTTTTCCTTCAAAGCCTTCCTCTTAGTCTCCTTTTTTTTTTTAAGACAGAGCTTCATTCTTGTTGCCCAGGCTGGAGTGCAATGGCGTGATCTCGGCTCACCGAAACCTCCTCCTCCCGGATTCAAGTGATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGATTACAGGCATGCACCACCACGCCCAGCTAATTTTGTATTTTTAGTAGAGACGGGGTTTCTCCGCGTTGGTCAGGCTGGTCTCGAACTCCCAACCTCAGGTGATCTGCCCACCTCAGCCTCCCAAAGTACTGGGATTACAGGCGTGAGCCACCGTGCCCGGCCAGTCTCTTATTACTCAATTCCTTCTCTCTAGGCCTTTCTCAAGTCTTCCTATTTTGAGTCATCAAAGCTCTAATGAAACCTCTCTCTAGTTCCCATACTCACCCGATCACGTCCACCCTTAGTCAGCGAGACACTGGCAACAGGGAAGGAGCAGAGTGAGGTGGTGGAGGAATCACAGTCGGTCCTAAATGAGATTGGAGGAGGATACTCTGCTAAGTTAGTCTTACTAGTCCATCCATACACCTTCTTTGCCCCCTAGGGCTCCCTCCTGCCCTCCTCCCTTCTCTCAGAACAGGCACCCTTCTCTCTGTTACAAAGATGGAGAACAAATGTGGCCAGGAGATTCAAGATACCAGGATTATTTCATTCTCTTCCTATGACTTCAATGTATGTCCTCTCATTACAACAGATGTTCTTAGATGGGAATCTAGAGATACTTAAATAGTTGCATACTTCAGTGTTTCTAAAGACTTAAGGAGCTTGATAAAAATGTAAATTCCAGGGCCAAGCAGCAGCGGCTCACGCCTGTAATCCCAGCACTTTTGGAGGCCGAGGAGGGCGGATCACCTGAGGTCAGGAGTTTAAGACCAGCCTGACCAACATGGAGACACCCCATCTCTACTAAAAATACAAAATTAGCGGGGCGTGGTGGCGCATGCCTGTAATCCCACCTACTCGGGACGCTGAGGCAGAAGAATCGCCTGAACCTGGGAGGCAGAGGTTGTGGTGAGCCAAGATCACGCCACTGCACTCCAGCCTGGGCAACAAGGGTGAAACTCCATCTCAAAAAAAAAAAAAAGGAAATTCCAGGGTCCCACCCCAAGAGATTCTGATTTGGTAGCTCTGGTCTGGGTCCTAGTTTGAGAAAACGCCTCCAAAAGGATCTACAGATGGTTATTAAGAAGCTCATGAACCCCTCCAATTGTAGGCAAATTTGCATGTGGGGGTGTGGGTGCAGCATATGCCTGGGCATGCATATACGTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTTGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCACGATCTCGGCTCACTGCAAGCTCCGCTTCCCAGGTTCACGCCATTTCTCCTGCCTCAGCCTCTCAAGTAGCTGGGACAACAGGCGCCTGCCACCACGCCCGGCTAATTTTTTTATTTTTAGTAGAGACAGGGTTTCACGGTGTTAGCCAGGATAGTCTCAATCTCCTGACCTTGTGATCCGCCTGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACCGCGCCCGGCCGTATATATGTTTTTATGGCAGGAAGGGCCATAAGATCCATTTCCTAAAAGTTTAAGAAGCTCTGCTTTAGAAACTATAGCTCTGGACCAGGGACTTAAGGGAAAAAATGACTTTAAACCATTGATTATAACGCCCTTCTCTGCATCTGTTGATAGGTCCTACAACCACTGTTAAGAAAAGAGAACTAGGCCGGGCGCAGTGGCTCATGCTTGTAATCCCAGCACTTTGGGAGGCCAAGGGGGTGGATCACGAGGTCAGGAGTTCGAGATCAGCCTGGCCAACATAGTGAAACCCCATCTCTACTAAAAATACAAAAAAAAATTAGCCAGGTGTGGTGGCAGGCACCTGTAATCCCAGTTACTTGGGAGGCTGAGGCAAGGCAGGAGAATGGCTTGAATCTGGAGGCAGAGGTTGCAGTGAGCTGAGATTGCGCCACTGCACTCCAGCCCAGGCAACAGCACGAGACTCTGTCTCAAAAAGAAAAAAAAAAAAAAGAAGAAGAAGAAGAGACCTTGGTGGGGCACAGTGGCTCACGTCTGTAATCCCAGCACTTTGGGAGGCCAAGGCGGATGGATCACCTGCATTCAGGAGTTCAAGACCAGCCTAGCCAACATGGTGAAACCCCATCTCCCCAGCACTTTGGGAGGCCAAGGCAGGTGGATCACAAGGTCAGGAGATTGAGACCATCCTGGCTAACAAGGTGAAACCCCATCTCTACTAAAAAAAAAAAAAAAAAAAAAAAAAAATTAGCTGGGTATGGTGGCAGGTGCCTGTAGTACCAGCTACTCAGGAGGCTGAGGCAGGAGAATGGCGTGAGCCCAGGAGGCGGAGCTTGCAGTGAGCCGACATGGCACCACTGCACTCCAGCCTGGGCGACAGAGCAAGACTCCATCTCA
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Task1_train_15992
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A variant has been detected on Chromosome 11 in BSCL2, HNRNPUL2-BSCL2 (BSCL2 lipid droplet biogenesis associated, seipin| HNRNPUL2-BSCL2 readthrough (NMD candidate)). What is its effect — pathogenic or benign? If pathogenic, name the disease.
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Pathogenic; Hereditary spastic paraplegia 17
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GCCAACATGATCAAACCCCGTCTCTATTAAAAATACAAAAATCAGCTAGGTATGGTGGCATACGCCTGTAACCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATCGATTGAACCCAGGGGGCAGAGGTTGCAGCGAGCCAAGATCGTGCCATTGCACTGTAGCCTGGGCGACAGGAAAGAAACTCCGTCTCAAATAAATAAATAAATAAATAAAACTTCAGGCTGGGTGTGGTTGCTCACGCATGTAATCCCAGCACTTTTGGAGGCCGAGGTGGGTGGATCACCTGAGGTCAGGAGTTTTAGACCAGCATGACCAACATGGTGAAACCCTGTCTCTGCTAAAAATACAAAAGTTAGCCGGGTGTGGTGGTGGGCACCTGTAATCCCAGGTACTCAGGAGGCTGAGGTGGGAGAATCGCTTGATCCCAGGAGTTGGAGGTTGCAGTGAAGTGAGATCGCGCCACTGCACTCCAGTCTTGGCGACAGAGCAAGACTCTGTCTCAAAAAAAAAAAAAGAACGTATCCTTTATGAGAGCCTCCTCTAGCTTGCCTACTATAGAGGGCCCAGTCCCCATATGCATTTCTCAGGGTTCCCAGGTTTGTTGACATCACACTGGCATCTGGCCAGTCCTCTGGCACAGTACCCTTTGTAATGACACGATGCATATATTTGACAACAGTTTCATAATGTTATATAAATGCTTTCAAAACTCTTGGGTAGATGCCCATCTTATTCCAATGTAATAGCTCATTTGTTCATTTAGGTCTAAAACATTGCTTACTTCACCTAGCAGATATTGCTCACTTTACCTAGCAGATAAATAGATCATACTTCACCTGATACAGATGGTCCTCAGTTTATGATGGGGTTACATTCCGATAAACCCATCTAAGTTGAAACTATCACAAGCTGAAAACGCATTTAGTACACCTAACCTAAAGAACATCATAGCTTACTTAGCCTAGCCTACCTTAAACATGCTCAGAACACTTATGTTAGCCTACCTATAGTTGATTACAATCATCTAACACAAAGCCTATACTTATAATAAAGTAGTGAATATCCCATGTGATTTATTGAATGCTGTACTGAACGTGAAAAACAGGCTGGGCGTGGTGGCTGACGCCTATAATCCCAGCACTTTGGGAGGCGGGCAGATCACAAGGTCAAGAGATCCAGACCATCCTGGCCAACATGGTGAAATCCCATCCCTACTAAAAATACAAAAAAATTAGCTGGGTGTGGTGGCGCGCTCCTGTAGTGCCAGCTACTCGGGAGGCTGAGGCAGGAGAATCGCTTGAACCCAGGAGGTGGAGGTTGCAGTGAGCTGAGATCGCGCCACTGCAATCCAGCCTGGCGACAGAGTGAGACTGTCTGGAAAAAAAAAAAAAAAAAGAAAGAGAGTGAAAAACAGAATGGTTGTATAGGTACCTGAAGTACAGTGTCTAAGGAATGTATGTCGCTTTTGCACCACAGTAAGTTGAAAAATTCTTAAGTTGAATTACCGTAAGTCAGGGACTATGTTGAGAAAGAACATTTCTAACACCTGCTGCAGAAAGATCCATCAATACACACAATTAATTTTAATTTCTTTTCCTTCAAAGCCTTCCTCTTAGTCTCCTTTTTTTTTTTAAGACAGAGCTTCATTCTTGTTGCCCAGGCTGGAGTGCAATGGCGTGATCTCGGCTCACCGAAACCTCCTCCTCCCGGATTCAAGTGATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGATTACAGGCATGCACCACCACGCCCAGCTAATTTTGTATTTTTAGTAGAGACGGGGTTTCTCCGCGTTGGTCAGGCTGGTCTCGAACTCCCAACCTCAGGTGATCTGCCCACCTCAGCCTCCCAAAGTACTGGGATTACAGGCGTGAGCCACCGTGCCCGGCCAGTCTCTTATTACTCAATTCCTTCTCTCTAGGCCTTTCTCAAGTCTTCCTATTTTGAGTCATCAAAGCTCTAATGAAACCTCTCTCTAGTTCCCATACTCACCCGATCACGTCCACCCTTAGTCAGCGAGACATTGGCAACAGGGAAGGAGCAGAGTGAGGTGGTGGAGGAATCACAGTCGGTCCTAAATGAGATTGGAGGAGGATACTCTGCTAAGTTAGTCTTACTAGTCCATCCATACACCTTCTTTGCCCCCTAGGGCTCCCTCCTGCCCTCCTCCCTTCTCTCAGAACAGGCACCCTTCTCTCTGTTACAAAGATGGAGAACAAATGTGGCCAGGAGATTCAAGATACCAGGATTATTTCATTCTCTTCCTATGACTTCAATGTATGTCCTCTCATTACAACAGATGTTCTTAGATGGGAATCTAGAGATACTTAAATAGTTGCATACTTCAGTGTTTCTAAAGACTTAAGGAGCTTGATAAAAATGTAAATTCCAGGGCCAAGCAGCAGCGGCTCACGCCTGTAATCCCAGCACTTTTGGAGGCCGAGGAGGGCGGATCACCTGAGGTCAGGAGTTTAAGACCAGCCTGACCAACATGGAGACACCCCATCTCTACTAAAAATACAAAATTAGCGGGGCGTGGTGGCGCATGCCTGTAATCCCACCTACTCGGGACGCTGAGGCAGAAGAATCGCCTGAACCTGGGAGGCAGAGGTTGTGGTGAGCCAAGATCACGCCACTGCACTCCAGCCTGGGCAACAAGGGTGAAACTCCATCTCAAAAAAAAAAAAAAGGAAATTCCAGGGTCCCACCCCAAGAGATTCTGATTTGGTAGCTCTGGTCTGGGTCCTAGTTTGAGAAAACGCCTCCAAAAGGATCTACAGATGGTTATTAAGAAGCTCATGAACCCCTCCAATTGTAGGCAAATTTGCATGTGGGGGTGTGGGTGCAGCATATGCCTGGGCATGCATATACGTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTTGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCACGATCTCGGCTCACTGCAAGCTCCGCTTCCCAGGTTCACGCCATTTCTCCTGCCTCAGCCTCTCAAGTAGCTGGGACAACAGGCGCCTGCCACCACGCCCGGCTAATTTTTTTATTTTTAGTAGAGACAGGGTTTCACGGTGTTAGCCAGGATAGTCTCAATCTCCTGACCTTGTGATCCGCCTGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACCGCGCCCGGCCGTATATATGTTTTTATGGCAGGAAGGGCCATAAGATCCATTTCCTAAAAGTTTAAGAAGCTCTGCTTTAGAAACTATAGCTCTGGACCAGGGACTTAAGGGAAAAAATGACTTTAAACCATTGATTATAACGCCCTTCTCTGCATCTGTTGATAGGTCCTACAACCACTGTTAAGAAAAGAGAACTAGGCCGGGCGCAGTGGCTCATGCTTGTAATCCCAGCACTTTGGGAGGCCAAGGGGGTGGATCACGAGGTCAGGAGTTCGAGATCAGCCTGGCCAACATAGTGAAACCCCATCTCTACTAAAAATACAAAAAAAAATTAGCCAGGTGTGGTGGCAGGCACCTGTAATCCCAGTTACTTGGGAGGCTGAGGCAAGGCAGGAGAATGGCTTGAATCTGGAGGCAGAGGTTGCAGTGAGCTGAGATTGCGCCACTGCACTCCAGCCCAGGCAACAGCACGAGACTCTGTCTCAAAAAGAAAAAAAAAAAAAAGAAGAAGAAGAAGAGACCTTGGTGGGGCACAGTGGCTCACGTCTGTAATCCCAGCACTTTGGGAGGCCAAGGCGGATGGATCACCTGCATTCAGGAGTTCAAGACCAGCCTAGCCAACATGGTGAAACCCCATCTCCCCAGCACTTTGGGAGGCCAAGGCAGGTGGATCACAAGGTCAGGAGATTGAGACCATCCTGGCTAACAAGGTGAAACCCCATCTCTACTAAAAAAAAAAAAAAAAAAAAAAAAAAATTAGCTGGGTATGGTGGCAGGTGCCTGTAGTACCAGCTACTCAGGAGGCTGAGGCAGGAGAATGGCGTGAGCCCAGGAGGCGGAGCTTGCAGTGAGCCGACATGGCACCACTGCACTCCAGCCTGGGCGACAGAGCAAGACTCCATCTCA
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GCCAACATGATCAAACCCCGTCTCTATTAAAAATACAAAAATCAGCTAGGTATGGTGGCATACGCCTGTAACCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATCGATTGAACCCAGGGGGCAGAGGTTGCAGCGAGCCAAGATCGTGCCATTGCACTGTAGCCTGGGCGACAGGAAAGAAACTCCGTCTCAAATAAATAAATAAATAAATAAAACTTCAGGCTGGGTGTGGTTGCTCACGCATGTAATCCCAGCACTTTTGGAGGCCGAGGTGGGTGGATCACCTGAGGTCAGGAGTTTTAGACCAGCATGACCAACATGGTGAAACCCTGTCTCTGCTAAAAATACAAAAGTTAGCCGGGTGTGGTGGTGGGCACCTGTAATCCCAGGTACTCAGGAGGCTGAGGTGGGAGAATCGCTTGATCCCAGGAGTTGGAGGTTGCAGTGAAGTGAGATCGCGCCACTGCACTCCAGTCTTGGCGACAGAGCAAGACTCTGTCTCAAAAAAAAAAAAAGAACGTATCCTTTATGAGAGCCTCCTCTAGCTTGCCTACTATAGAGGGCCCAGTCCCCATATGCATTTCTCAGGGTTCCCAGGTTTGTTGACATCACACTGGCATCTGGCCAGTCCTCTGGCACAGTACCCTTTGTAATGACACGATGCATATATTTGACAACAGTTTCATAATGTTATATAAATGCTTTCAAAACTCTTGGGTAGATGCCCATCTTATTCCAATGTAATAGCTCATTTGTTCATTTAGGTCTAAAACATTGCTTACTTCACCTAGCAGATATTGCTCACTTTACCTAGCAGATAAATAGATCATACTTCACCTGATACAGATGGTCCTCAGTTTATGATGGGGTTACATTCCGATAAACCCATCTAAGTTGAAACTATCACAAGCTGAAAACGCATTTAGTACACCTAACCTAAAGAACATCATAGCTTACTTAGCCTAGCCTACCTTAAACATGCTCAGAACACTTATGTTAGCCTACCTATAGTTGATTACAATCATCTAACACAAAGCCTATACTTATAATAAAGTAGTGAATATCCCATGTGATTTATTGAATGCTGTACTGAACGTGAAAAACAGGCTGGGCGTGGTGGCTGACGCCTATAATCCCAGCACTTTGGGAGGCGGGCAGATCACAAGGTCAAGAGATCCAGACCATCCTGGCCAACATGGTGAAATCCCATCCCTACTAAAAATACAAAAAAATTAGCTGGGTGTGGTGGCGCGCTCCTGTAGTGCCAGCTACTCGGGAGGCTGAGGCAGGAGAATCGCTTGAACCCAGGAGGTGGAGGTTGCAGTGAGCTGAGATCGCGCCACTGCAATCCAGCCTGGCGACAGAGTGAGACTGTCTGGAAAAAAAAAAAAAAAAAGAAAGAGAGTGAAAAACAGAATGGTTGTATAGGTACCTGAAGTACAGTGTCTAAGGAATGTATGTCGCTTTTGCACCACAGTAAGTTGAAAAATTCTTAAGTTGAATTACCGTAAGTCAGGGACTATGTTGAGAAAGAACATTTCTAACACCTGCTGCAGAAAGATCCATCAATACACACAATTAATTTTAATTTCTTTTCCTTCAAAGCCTTCCTCTTAGTCTCCTTTTTTTTTTTAAGACAGAGCTTCATTCTTGTTGCCCAGGCTGGAGTGCAATGGCGTGATCTCGGCTCACCGAAACCTCCTCCTCCCGGATTCAAGTGATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGATTACAGGCATGCACCACCACGCCCAGCTAATTTTGTATTTTTAGTAGAGACGGGGTTTCTCCGCGTTGGTCAGGCTGGTCTCGAACTCCCAACCTCAGGTGATCTGCCCACCTCAGCCTCCCAAAGTACTGGGATTACAGGCGTGAGCCACCGTGCCCGGCCAGTCTCTTATTACTCAATTCCTTCTCTCTAGGCCTTTCTCAAGTCTTCCTATTTTGAGTCATCAAAGCTCTAATGAAACCTCTCTCTAGTTCCCATACTCACCCGATCACGTCCACCCTTAGTCAGCGAGACACTGGCAACAGGGAAGGAGCAGAGTGAGGTGGTGGAGGAATCACAGTCGGTCCTAAATGAGATTGGAGGAGGATACTCTGCTAAGTTAGTCTTACTAGTCCATCCATACACCTTCTTTGCCCCCTAGGGCTCCCTCCTGCCCTCCTCCCTTCTCTCAGAACAGGCACCCTTCTCTCTGTTACAAAGATGGAGAACAAATGTGGCCAGGAGATTCAAGATACCAGGATTATTTCATTCTCTTCCTATGACTTCAATGTATGTCCTCTCATTACAACAGATGTTCTTAGATGGGAATCTAGAGATACTTAAATAGTTGCATACTTCAGTGTTTCTAAAGACTTAAGGAGCTTGATAAAAATGTAAATTCCAGGGCCAAGCAGCAGCGGCTCACGCCTGTAATCCCAGCACTTTTGGAGGCCGAGGAGGGCGGATCACCTGAGGTCAGGAGTTTAAGACCAGCCTGACCAACATGGAGACACCCCATCTCTACTAAAAATACAAAATTAGCGGGGCGTGGTGGCGCATGCCTGTAATCCCACCTACTCGGGACGCTGAGGCAGAAGAATCGCCTGAACCTGGGAGGCAGAGGTTGTGGTGAGCCAAGATCACGCCACTGCACTCCAGCCTGGGCAACAAGGGTGAAACTCCATCTCAAAAAAAAAAAAAAGGAAATTCCAGGGTCCCACCCCAAGAGATTCTGATTTGGTAGCTCTGGTCTGGGTCCTAGTTTGAGAAAACGCCTCCAAAAGGATCTACAGATGGTTATTAAGAAGCTCATGAACCCCTCCAATTGTAGGCAAATTTGCATGTGGGGGTGTGGGTGCAGCATATGCCTGGGCATGCATATACGTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTTGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCACGATCTCGGCTCACTGCAAGCTCCGCTTCCCAGGTTCACGCCATTTCTCCTGCCTCAGCCTCTCAAGTAGCTGGGACAACAGGCGCCTGCCACCACGCCCGGCTAATTTTTTTATTTTTAGTAGAGACAGGGTTTCACGGTGTTAGCCAGGATAGTCTCAATCTCCTGACCTTGTGATCCGCCTGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACCGCGCCCGGCCGTATATATGTTTTTATGGCAGGAAGGGCCATAAGATCCATTTCCTAAAAGTTTAAGAAGCTCTGCTTTAGAAACTATAGCTCTGGACCAGGGACTTAAGGGAAAAAATGACTTTAAACCATTGATTATAACGCCCTTCTCTGCATCTGTTGATAGGTCCTACAACCACTGTTAAGAAAAGAGAACTAGGCCGGGCGCAGTGGCTCATGCTTGTAATCCCAGCACTTTGGGAGGCCAAGGGGGTGGATCACGAGGTCAGGAGTTCGAGATCAGCCTGGCCAACATAGTGAAACCCCATCTCTACTAAAAATACAAAAAAAAATTAGCCAGGTGTGGTGGCAGGCACCTGTAATCCCAGTTACTTGGGAGGCTGAGGCAAGGCAGGAGAATGGCTTGAATCTGGAGGCAGAGGTTGCAGTGAGCTGAGATTGCGCCACTGCACTCCAGCCCAGGCAACAGCACGAGACTCTGTCTCAAAAAGAAAAAAAAAAAAAAGAAGAAGAAGAAGAGACCTTGGTGGGGCACAGTGGCTCACGTCTGTAATCCCAGCACTTTGGGAGGCCAAGGCGGATGGATCACCTGCATTCAGGAGTTCAAGACCAGCCTAGCCAACATGGTGAAACCCCATCTCCCCAGCACTTTGGGAGGCCAAGGCAGGTGGATCACAAGGTCAGGAGATTGAGACCATCCTGGCTAACAAGGTGAAACCCCATCTCTACTAAAAAAAAAAAAAAAAAAAAAAAAAAATTAGCTGGGTATGGTGGCAGGTGCCTGTAGTACCAGCTACTCAGGAGGCTGAGGCAGGAGAATGGCGTGAGCCCAGGAGGCGGAGCTTGCAGTGAGCCGACATGGCACCACTGCACTCCAGCCTGGGCGACAGAGCAAGACTCCATCTCA
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Task1_train_15993
|
Given this context: Chromosome 11, gene BSCL2, HNRNPUL2-BSCL2 (BSCL2 lipid droplet biogenesis associated, seipin| HNRNPUL2-BSCL2 readthrough (NMD candidate)) — does this variant present pathogenic behavior, and if so, what disease does it relate to?
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Pathogenic; Neuronopathy, distal hereditary motor, type 5C
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GCCAACATGATCAAACCCCGTCTCTATTAAAAATACAAAAATCAGCTAGGTATGGTGGCATACGCCTGTAACCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATCGATTGAACCCAGGGGGCAGAGGTTGCAGCGAGCCAAGATCGTGCCATTGCACTGTAGCCTGGGCGACAGGAAAGAAACTCCGTCTCAAATAAATAAATAAATAAATAAAACTTCAGGCTGGGTGTGGTTGCTCACGCATGTAATCCCAGCACTTTTGGAGGCCGAGGTGGGTGGATCACCTGAGGTCAGGAGTTTTAGACCAGCATGACCAACATGGTGAAACCCTGTCTCTGCTAAAAATACAAAAGTTAGCCGGGTGTGGTGGTGGGCACCTGTAATCCCAGGTACTCAGGAGGCTGAGGTGGGAGAATCGCTTGATCCCAGGAGTTGGAGGTTGCAGTGAAGTGAGATCGCGCCACTGCACTCCAGTCTTGGCGACAGAGCAAGACTCTGTCTCAAAAAAAAAAAAAGAACGTATCCTTTATGAGAGCCTCCTCTAGCTTGCCTACTATAGAGGGCCCAGTCCCCATATGCATTTCTCAGGGTTCCCAGGTTTGTTGACATCACACTGGCATCTGGCCAGTCCTCTGGCACAGTACCCTTTGTAATGACACGATGCATATATTTGACAACAGTTTCATAATGTTATATAAATGCTTTCAAAACTCTTGGGTAGATGCCCATCTTATTCCAATGTAATAGCTCATTTGTTCATTTAGGTCTAAAACATTGCTTACTTCACCTAGCAGATATTGCTCACTTTACCTAGCAGATAAATAGATCATACTTCACCTGATACAGATGGTCCTCAGTTTATGATGGGGTTACATTCCGATAAACCCATCTAAGTTGAAACTATCACAAGCTGAAAACGCATTTAGTACACCTAACCTAAAGAACATCATAGCTTACTTAGCCTAGCCTACCTTAAACATGCTCAGAACACTTATGTTAGCCTACCTATAGTTGATTACAATCATCTAACACAAAGCCTATACTTATAATAAAGTAGTGAATATCCCATGTGATTTATTGAATGCTGTACTGAACGTGAAAAACAGGCTGGGCGTGGTGGCTGACGCCTATAATCCCAGCACTTTGGGAGGCGGGCAGATCACAAGGTCAAGAGATCCAGACCATCCTGGCCAACATGGTGAAATCCCATCCCTACTAAAAATACAAAAAAATTAGCTGGGTGTGGTGGCGCGCTCCTGTAGTGCCAGCTACTCGGGAGGCTGAGGCAGGAGAATCGCTTGAACCCAGGAGGTGGAGGTTGCAGTGAGCTGAGATCGCGCCACTGCAATCCAGCCTGGCGACAGAGTGAGACTGTCTGGAAAAAAAAAAAAAAAAAGAAAGAGAGTGAAAAACAGAATGGTTGTATAGGTACCTGAAGTACAGTGTCTAAGGAATGTATGTCGCTTTTGCACCACAGTAAGTTGAAAAATTCTTAAGTTGAATTACCGTAAGTCAGGGACTATGTTGAGAAAGAACATTTCTAACACCTGCTGCAGAAAGATCCATCAATACACACAATTAATTTTAATTTCTTTTCCTTCAAAGCCTTCCTCTTAGTCTCCTTTTTTTTTTTAAGACAGAGCTTCATTCTTGTTGCCCAGGCTGGAGTGCAATGGCGTGATCTCGGCTCACCGAAACCTCCTCCTCCCGGATTCAAGTGATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGATTACAGGCATGCACCACCACGCCCAGCTAATTTTGTATTTTTAGTAGAGACGGGGTTTCTCCGCGTTGGTCAGGCTGGTCTCGAACTCCCAACCTCAGGTGATCTGCCCACCTCAGCCTCCCAAAGTACTGGGATTACAGGCGTGAGCCACCGTGCCCGGCCAGTCTCTTATTACTCAATTCCTTCTCTCTAGGCCTTTCTCAAGTCTTCCTATTTTGAGTCATCAAAGCTCTAATGAAACCTCTCTCTAGTTCCCATACTCACCCGATCACGTCCACCCTTAGTCAGCGAGACATTGGCAACAGGGAAGGAGCAGAGTGAGGTGGTGGAGGAATCACAGTCGGTCCTAAATGAGATTGGAGGAGGATACTCTGCTAAGTTAGTCTTACTAGTCCATCCATACACCTTCTTTGCCCCCTAGGGCTCCCTCCTGCCCTCCTCCCTTCTCTCAGAACAGGCACCCTTCTCTCTGTTACAAAGATGGAGAACAAATGTGGCCAGGAGATTCAAGATACCAGGATTATTTCATTCTCTTCCTATGACTTCAATGTATGTCCTCTCATTACAACAGATGTTCTTAGATGGGAATCTAGAGATACTTAAATAGTTGCATACTTCAGTGTTTCTAAAGACTTAAGGAGCTTGATAAAAATGTAAATTCCAGGGCCAAGCAGCAGCGGCTCACGCCTGTAATCCCAGCACTTTTGGAGGCCGAGGAGGGCGGATCACCTGAGGTCAGGAGTTTAAGACCAGCCTGACCAACATGGAGACACCCCATCTCTACTAAAAATACAAAATTAGCGGGGCGTGGTGGCGCATGCCTGTAATCCCACCTACTCGGGACGCTGAGGCAGAAGAATCGCCTGAACCTGGGAGGCAGAGGTTGTGGTGAGCCAAGATCACGCCACTGCACTCCAGCCTGGGCAACAAGGGTGAAACTCCATCTCAAAAAAAAAAAAAAGGAAATTCCAGGGTCCCACCCCAAGAGATTCTGATTTGGTAGCTCTGGTCTGGGTCCTAGTTTGAGAAAACGCCTCCAAAAGGATCTACAGATGGTTATTAAGAAGCTCATGAACCCCTCCAATTGTAGGCAAATTTGCATGTGGGGGTGTGGGTGCAGCATATGCCTGGGCATGCATATACGTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTTGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCACGATCTCGGCTCACTGCAAGCTCCGCTTCCCAGGTTCACGCCATTTCTCCTGCCTCAGCCTCTCAAGTAGCTGGGACAACAGGCGCCTGCCACCACGCCCGGCTAATTTTTTTATTTTTAGTAGAGACAGGGTTTCACGGTGTTAGCCAGGATAGTCTCAATCTCCTGACCTTGTGATCCGCCTGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACCGCGCCCGGCCGTATATATGTTTTTATGGCAGGAAGGGCCATAAGATCCATTTCCTAAAAGTTTAAGAAGCTCTGCTTTAGAAACTATAGCTCTGGACCAGGGACTTAAGGGAAAAAATGACTTTAAACCATTGATTATAACGCCCTTCTCTGCATCTGTTGATAGGTCCTACAACCACTGTTAAGAAAAGAGAACTAGGCCGGGCGCAGTGGCTCATGCTTGTAATCCCAGCACTTTGGGAGGCCAAGGGGGTGGATCACGAGGTCAGGAGTTCGAGATCAGCCTGGCCAACATAGTGAAACCCCATCTCTACTAAAAATACAAAAAAAAATTAGCCAGGTGTGGTGGCAGGCACCTGTAATCCCAGTTACTTGGGAGGCTGAGGCAAGGCAGGAGAATGGCTTGAATCTGGAGGCAGAGGTTGCAGTGAGCTGAGATTGCGCCACTGCACTCCAGCCCAGGCAACAGCACGAGACTCTGTCTCAAAAAGAAAAAAAAAAAAAAGAAGAAGAAGAAGAGACCTTGGTGGGGCACAGTGGCTCACGTCTGTAATCCCAGCACTTTGGGAGGCCAAGGCGGATGGATCACCTGCATTCAGGAGTTCAAGACCAGCCTAGCCAACATGGTGAAACCCCATCTCCCCAGCACTTTGGGAGGCCAAGGCAGGTGGATCACAAGGTCAGGAGATTGAGACCATCCTGGCTAACAAGGTGAAACCCCATCTCTACTAAAAAAAAAAAAAAAAAAAAAAAAAAATTAGCTGGGTATGGTGGCAGGTGCCTGTAGTACCAGCTACTCAGGAGGCTGAGGCAGGAGAATGGCGTGAGCCCAGGAGGCGGAGCTTGCAGTGAGCCGACATGGCACCACTGCACTCCAGCCTGGGCGACAGAGCAAGACTCCATCTCA
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GCCAACATGATCAAACCCCGTCTCTATTAAAAATACAAAAATCAGCTAGGTATGGTGGCATACGCCTGTAACCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATCGATTGAACCCAGGGGGCAGAGGTTGCAGCGAGCCAAGATCGTGCCATTGCACTGTAGCCTGGGCGACAGGAAAGAAACTCCGTCTCAAATAAATAAATAAATAAATAAAACTTCAGGCTGGGTGTGGTTGCTCACGCATGTAATCCCAGCACTTTTGGAGGCCGAGGTGGGTGGATCACCTGAGGTCAGGAGTTTTAGACCAGCATGACCAACATGGTGAAACCCTGTCTCTGCTAAAAATACAAAAGTTAGCCGGGTGTGGTGGTGGGCACCTGTAATCCCAGGTACTCAGGAGGCTGAGGTGGGAGAATCGCTTGATCCCAGGAGTTGGAGGTTGCAGTGAAGTGAGATCGCGCCACTGCACTCCAGTCTTGGCGACAGAGCAAGACTCTGTCTCAAAAAAAAAAAAAGAACGTATCCTTTATGAGAGCCTCCTCTAGCTTGCCTACTATAGAGGGCCCAGTCCCCATATGCATTTCTCAGGGTTCCCAGGTTTGTTGACATCACACTGGCATCTGGCCAGTCCTCTGGCACAGTACCCTTTGTAATGACACGATGCATATATTTGACAACAGTTTCATAATGTTATATAAATGCTTTCAAAACTCTTGGGTAGATGCCCATCTTATTCCAATGTAATAGCTCATTTGTTCATTTAGGTCTAAAACATTGCTTACTTCACCTAGCAGATATTGCTCACTTTACCTAGCAGATAAATAGATCATACTTCACCTGATACAGATGGTCCTCAGTTTATGATGGGGTTACATTCCGATAAACCCATCTAAGTTGAAACTATCACAAGCTGAAAACGCATTTAGTACACCTAACCTAAAGAACATCATAGCTTACTTAGCCTAGCCTACCTTAAACATGCTCAGAACACTTATGTTAGCCTACCTATAGTTGATTACAATCATCTAACACAAAGCCTATACTTATAATAAAGTAGTGAATATCCCATGTGATTTATTGAATGCTGTACTGAACGTGAAAAACAGGCTGGGCGTGGTGGCTGACGCCTATAATCCCAGCACTTTGGGAGGCGGGCAGATCACAAGGTCAAGAGATCCAGACCATCCTGGCCAACATGGTGAAATCCCATCCCTACTAAAAATACAAAAAAATTAGCTGGGTGTGGTGGCGCGCTCCTGTAGTGCCAGCTACTCGGGAGGCTGAGGCAGGAGAATCGCTTGAACCCAGGAGGTGGAGGTTGCAGTGAGCTGAGATCGCGCCACTGCAATCCAGCCTGGCGACAGAGTGAGACTGTCTGGAAAAAAAAAAAAAAAAAGAAAGAGAGTGAAAAACAGAATGGTTGTATAGGTACCTGAAGTACAGTGTCTAAGGAATGTATGTCGCTTTTGCACCACAGTAAGTTGAAAAATTCTTAAGTTGAATTACCGTAAGTCAGGGACTATGTTGAGAAAGAACATTTCTAACACCTGCTGCAGAAAGATCCATCAATACACACAATTAATTTTAATTTCTTTTCCTTCAAAGCCTTCCTCTTAGTCTCCTTTTTTTTTTTAAGACAGAGCTTCATTCTTGTTGCCCAGGCTGGAGTGCAATGGCGTGATCTCGGCTCACCGAAACCTCCTCCTCCCGGATTCAAGTGATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGATTACAGGCATGCACCACCACGCCCAGCTAATTTTGTATTTTTAGTAGAGACGGGGTTTCTCCGCGTTGGTCAGGCTGGTCTCGAACTCCCAACCTCAGGTGATCTGCCCACCTCAGCCTCCCAAAGTACTGGGATTACAGGCGTGAGCCACCGTGCCCGGCCAGTCTCTTATTACTCAATTCCTTCTCTCTAGGCCTTTCTCAAGTCTTCCTATTTTGAGTCATCAAAGCTCTAATGAAACCTCTCTCTAGTTCCCATACTCACCCGATCACGTCCACCCTTAGTCAGCGAGACACTGGCAACAGGGAAGGAGCAGAGTGAGGTGGTGGAGGAATCACAGTCGGTCCTAAATGAGATTGGAGGAGGATACTCTGCTAAGTTAGTCTTACTAGTCCATCCATACACCTTCTTTGCCCCCTAGGGCTCCCTCCTGCCCTCCTCCCTTCTCTCAGAACAGGCACCCTTCTCTCTGTTACAAAGATGGAGAACAAATGTGGCCAGGAGATTCAAGATACCAGGATTATTTCATTCTCTTCCTATGACTTCAATGTATGTCCTCTCATTACAACAGATGTTCTTAGATGGGAATCTAGAGATACTTAAATAGTTGCATACTTCAGTGTTTCTAAAGACTTAAGGAGCTTGATAAAAATGTAAATTCCAGGGCCAAGCAGCAGCGGCTCACGCCTGTAATCCCAGCACTTTTGGAGGCCGAGGAGGGCGGATCACCTGAGGTCAGGAGTTTAAGACCAGCCTGACCAACATGGAGACACCCCATCTCTACTAAAAATACAAAATTAGCGGGGCGTGGTGGCGCATGCCTGTAATCCCACCTACTCGGGACGCTGAGGCAGAAGAATCGCCTGAACCTGGGAGGCAGAGGTTGTGGTGAGCCAAGATCACGCCACTGCACTCCAGCCTGGGCAACAAGGGTGAAACTCCATCTCAAAAAAAAAAAAAAGGAAATTCCAGGGTCCCACCCCAAGAGATTCTGATTTGGTAGCTCTGGTCTGGGTCCTAGTTTGAGAAAACGCCTCCAAAAGGATCTACAGATGGTTATTAAGAAGCTCATGAACCCCTCCAATTGTAGGCAAATTTGCATGTGGGGGTGTGGGTGCAGCATATGCCTGGGCATGCATATACGTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTTGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCACGATCTCGGCTCACTGCAAGCTCCGCTTCCCAGGTTCACGCCATTTCTCCTGCCTCAGCCTCTCAAGTAGCTGGGACAACAGGCGCCTGCCACCACGCCCGGCTAATTTTTTTATTTTTAGTAGAGACAGGGTTTCACGGTGTTAGCCAGGATAGTCTCAATCTCCTGACCTTGTGATCCGCCTGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACCGCGCCCGGCCGTATATATGTTTTTATGGCAGGAAGGGCCATAAGATCCATTTCCTAAAAGTTTAAGAAGCTCTGCTTTAGAAACTATAGCTCTGGACCAGGGACTTAAGGGAAAAAATGACTTTAAACCATTGATTATAACGCCCTTCTCTGCATCTGTTGATAGGTCCTACAACCACTGTTAAGAAAAGAGAACTAGGCCGGGCGCAGTGGCTCATGCTTGTAATCCCAGCACTTTGGGAGGCCAAGGGGGTGGATCACGAGGTCAGGAGTTCGAGATCAGCCTGGCCAACATAGTGAAACCCCATCTCTACTAAAAATACAAAAAAAAATTAGCCAGGTGTGGTGGCAGGCACCTGTAATCCCAGTTACTTGGGAGGCTGAGGCAAGGCAGGAGAATGGCTTGAATCTGGAGGCAGAGGTTGCAGTGAGCTGAGATTGCGCCACTGCACTCCAGCCCAGGCAACAGCACGAGACTCTGTCTCAAAAAGAAAAAAAAAAAAAAGAAGAAGAAGAAGAGACCTTGGTGGGGCACAGTGGCTCACGTCTGTAATCCCAGCACTTTGGGAGGCCAAGGCGGATGGATCACCTGCATTCAGGAGTTCAAGACCAGCCTAGCCAACATGGTGAAACCCCATCTCCCCAGCACTTTGGGAGGCCAAGGCAGGTGGATCACAAGGTCAGGAGATTGAGACCATCCTGGCTAACAAGGTGAAACCCCATCTCTACTAAAAAAAAAAAAAAAAAAAAAAAAAAATTAGCTGGGTATGGTGGCAGGTGCCTGTAGTACCAGCTACTCAGGAGGCTGAGGCAGGAGAATGGCGTGAGCCCAGGAGGCGGAGCTTGCAGTGAGCCGACATGGCACCACTGCACTCCAGCCTGGGCGACAGAGCAAGACTCCATCTCA
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Task1_train_15994
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A mutation on Chromosome 11 affecting BSCL2, HNRNPUL2-BSCL2 (BSCL2 lipid droplet biogenesis associated, seipin| HNRNPUL2-BSCL2 readthrough (NMD candidate)) has been found. Is it harmful or harmless? What disease, if any, does it cause?
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Pathogenic; Peripheral neuropathy
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GCCAACATGATCAAACCCCGTCTCTATTAAAAATACAAAAATCAGCTAGGTATGGTGGCATACGCCTGTAACCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATCGATTGAACCCAGGGGGCAGAGGTTGCAGCGAGCCAAGATCGTGCCATTGCACTGTAGCCTGGGCGACAGGAAAGAAACTCCGTCTCAAATAAATAAATAAATAAATAAAACTTCAGGCTGGGTGTGGTTGCTCACGCATGTAATCCCAGCACTTTTGGAGGCCGAGGTGGGTGGATCACCTGAGGTCAGGAGTTTTAGACCAGCATGACCAACATGGTGAAACCCTGTCTCTGCTAAAAATACAAAAGTTAGCCGGGTGTGGTGGTGGGCACCTGTAATCCCAGGTACTCAGGAGGCTGAGGTGGGAGAATCGCTTGATCCCAGGAGTTGGAGGTTGCAGTGAAGTGAGATCGCGCCACTGCACTCCAGTCTTGGCGACAGAGCAAGACTCTGTCTCAAAAAAAAAAAAAGAACGTATCCTTTATGAGAGCCTCCTCTAGCTTGCCTACTATAGAGGGCCCAGTCCCCATATGCATTTCTCAGGGTTCCCAGGTTTGTTGACATCACACTGGCATCTGGCCAGTCCTCTGGCACAGTACCCTTTGTAATGACACGATGCATATATTTGACAACAGTTTCATAATGTTATATAAATGCTTTCAAAACTCTTGGGTAGATGCCCATCTTATTCCAATGTAATAGCTCATTTGTTCATTTAGGTCTAAAACATTGCTTACTTCACCTAGCAGATATTGCTCACTTTACCTAGCAGATAAATAGATCATACTTCACCTGATACAGATGGTCCTCAGTTTATGATGGGGTTACATTCCGATAAACCCATCTAAGTTGAAACTATCACAAGCTGAAAACGCATTTAGTACACCTAACCTAAAGAACATCATAGCTTACTTAGCCTAGCCTACCTTAAACATGCTCAGAACACTTATGTTAGCCTACCTATAGTTGATTACAATCATCTAACACAAAGCCTATACTTATAATAAAGTAGTGAATATCCCATGTGATTTATTGAATGCTGTACTGAACGTGAAAAACAGGCTGGGCGTGGTGGCTGACGCCTATAATCCCAGCACTTTGGGAGGCGGGCAGATCACAAGGTCAAGAGATCCAGACCATCCTGGCCAACATGGTGAAATCCCATCCCTACTAAAAATACAAAAAAATTAGCTGGGTGTGGTGGCGCGCTCCTGTAGTGCCAGCTACTCGGGAGGCTGAGGCAGGAGAATCGCTTGAACCCAGGAGGTGGAGGTTGCAGTGAGCTGAGATCGCGCCACTGCAATCCAGCCTGGCGACAGAGTGAGACTGTCTGGAAAAAAAAAAAAAAAAAGAAAGAGAGTGAAAAACAGAATGGTTGTATAGGTACCTGAAGTACAGTGTCTAAGGAATGTATGTCGCTTTTGCACCACAGTAAGTTGAAAAATTCTTAAGTTGAATTACCGTAAGTCAGGGACTATGTTGAGAAAGAACATTTCTAACACCTGCTGCAGAAAGATCCATCAATACACACAATTAATTTTAATTTCTTTTCCTTCAAAGCCTTCCTCTTAGTCTCCTTTTTTTTTTTAAGACAGAGCTTCATTCTTGTTGCCCAGGCTGGAGTGCAATGGCGTGATCTCGGCTCACCGAAACCTCCTCCTCCCGGATTCAAGTGATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGATTACAGGCATGCACCACCACGCCCAGCTAATTTTGTATTTTTAGTAGAGACGGGGTTTCTCCGCGTTGGTCAGGCTGGTCTCGAACTCCCAACCTCAGGTGATCTGCCCACCTCAGCCTCCCAAAGTACTGGGATTACAGGCGTGAGCCACCGTGCCCGGCCAGTCTCTTATTACTCAATTCCTTCTCTCTAGGCCTTTCTCAAGTCTTCCTATTTTGAGTCATCAAAGCTCTAATGAAACCTCTCTCTAGTTCCCATACTCACCCGATCACGTCCACCCTTAGTCAGCGAGACATTGGCAACAGGGAAGGAGCAGAGTGAGGTGGTGGAGGAATCACAGTCGGTCCTAAATGAGATTGGAGGAGGATACTCTGCTAAGTTAGTCTTACTAGTCCATCCATACACCTTCTTTGCCCCCTAGGGCTCCCTCCTGCCCTCCTCCCTTCTCTCAGAACAGGCACCCTTCTCTCTGTTACAAAGATGGAGAACAAATGTGGCCAGGAGATTCAAGATACCAGGATTATTTCATTCTCTTCCTATGACTTCAATGTATGTCCTCTCATTACAACAGATGTTCTTAGATGGGAATCTAGAGATACTTAAATAGTTGCATACTTCAGTGTTTCTAAAGACTTAAGGAGCTTGATAAAAATGTAAATTCCAGGGCCAAGCAGCAGCGGCTCACGCCTGTAATCCCAGCACTTTTGGAGGCCGAGGAGGGCGGATCACCTGAGGTCAGGAGTTTAAGACCAGCCTGACCAACATGGAGACACCCCATCTCTACTAAAAATACAAAATTAGCGGGGCGTGGTGGCGCATGCCTGTAATCCCACCTACTCGGGACGCTGAGGCAGAAGAATCGCCTGAACCTGGGAGGCAGAGGTTGTGGTGAGCCAAGATCACGCCACTGCACTCCAGCCTGGGCAACAAGGGTGAAACTCCATCTCAAAAAAAAAAAAAAGGAAATTCCAGGGTCCCACCCCAAGAGATTCTGATTTGGTAGCTCTGGTCTGGGTCCTAGTTTGAGAAAACGCCTCCAAAAGGATCTACAGATGGTTATTAAGAAGCTCATGAACCCCTCCAATTGTAGGCAAATTTGCATGTGGGGGTGTGGGTGCAGCATATGCCTGGGCATGCATATACGTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTTGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCACGATCTCGGCTCACTGCAAGCTCCGCTTCCCAGGTTCACGCCATTTCTCCTGCCTCAGCCTCTCAAGTAGCTGGGACAACAGGCGCCTGCCACCACGCCCGGCTAATTTTTTTATTTTTAGTAGAGACAGGGTTTCACGGTGTTAGCCAGGATAGTCTCAATCTCCTGACCTTGTGATCCGCCTGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACCGCGCCCGGCCGTATATATGTTTTTATGGCAGGAAGGGCCATAAGATCCATTTCCTAAAAGTTTAAGAAGCTCTGCTTTAGAAACTATAGCTCTGGACCAGGGACTTAAGGGAAAAAATGACTTTAAACCATTGATTATAACGCCCTTCTCTGCATCTGTTGATAGGTCCTACAACCACTGTTAAGAAAAGAGAACTAGGCCGGGCGCAGTGGCTCATGCTTGTAATCCCAGCACTTTGGGAGGCCAAGGGGGTGGATCACGAGGTCAGGAGTTCGAGATCAGCCTGGCCAACATAGTGAAACCCCATCTCTACTAAAAATACAAAAAAAAATTAGCCAGGTGTGGTGGCAGGCACCTGTAATCCCAGTTACTTGGGAGGCTGAGGCAAGGCAGGAGAATGGCTTGAATCTGGAGGCAGAGGTTGCAGTGAGCTGAGATTGCGCCACTGCACTCCAGCCCAGGCAACAGCACGAGACTCTGTCTCAAAAAGAAAAAAAAAAAAAAGAAGAAGAAGAAGAGACCTTGGTGGGGCACAGTGGCTCACGTCTGTAATCCCAGCACTTTGGGAGGCCAAGGCGGATGGATCACCTGCATTCAGGAGTTCAAGACCAGCCTAGCCAACATGGTGAAACCCCATCTCCCCAGCACTTTGGGAGGCCAAGGCAGGTGGATCACAAGGTCAGGAGATTGAGACCATCCTGGCTAACAAGGTGAAACCCCATCTCTACTAAAAAAAAAAAAAAAAAAAAAAAAAAATTAGCTGGGTATGGTGGCAGGTGCCTGTAGTACCAGCTACTCAGGAGGCTGAGGCAGGAGAATGGCGTGAGCCCAGGAGGCGGAGCTTGCAGTGAGCCGACATGGCACCACTGCACTCCAGCCTGGGCGACAGAGCAAGACTCCATCTCA
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GCCAACATGATCAAACCCCGTCTCTATTAAAAATACAAAAATCAGCTAGGTATGGTGGCATACGCCTGTAACCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATCGATTGAACCCAGGGGGCAGAGGTTGCAGCGAGCCAAGATCGTGCCATTGCACTGTAGCCTGGGCGACAGGAAAGAAACTCCGTCTCAAATAAATAAATAAATAAATAAAACTTCAGGCTGGGTGTGGTTGCTCACGCATGTAATCCCAGCACTTTTGGAGGCCGAGGTGGGTGGATCACCTGAGGTCAGGAGTTTTAGACCAGCATGACCAACATGGTGAAACCCTGTCTCTGCTAAAAATACAAAAGTTAGCCGGGTGTGGTGGTGGGCACCTGTAATCCCAGGTACTCAGGAGGCTGAGGTGGGAGAATCGCTTGATCCCAGGAGTTGGAGGTTGCAGTGAAGTGAGATCGCGCCACTGCACTCCAGTCTTGGCGACAGAGCAAGACTCTGTCTCAAAAAAAAAAAAAGAACGTATCCTTTATGAGAGCCTCCTCTAGCTTGCCTACTATAGAGGGCCCAGTCCCCATATGCATTTCTCAGGGTTCCCAGGTTTGTTGACATCACACTGGCATCTGGCCAGTCCTCTGGCACAGTACCCTTTGTAATGACACGATGCATATATTTGACAACAGTTTCATAATGTTATATAAATGCTTTCAAAACTCTTGGGTAGATGCCCATCTTATTCCAATGTAATAGCTCATTTGTTCATTTAGGTCTAAAACATTGCTTACTTCACCTAGCAGATATTGCTCACTTTACCTAGCAGATAAATAGATCATACTTCACCTGATACAGATGGTCCTCAGTTTATGATGGGGTTACATTCCGATAAACCCATCTAAGTTGAAACTATCACAAGCTGAAAACGCATTTAGTACACCTAACCTAAAGAACATCATAGCTTACTTAGCCTAGCCTACCTTAAACATGCTCAGAACACTTATGTTAGCCTACCTATAGTTGATTACAATCATCTAACACAAAGCCTATACTTATAATAAAGTAGTGAATATCCCATGTGATTTATTGAATGCTGTACTGAACGTGAAAAACAGGCTGGGCGTGGTGGCTGACGCCTATAATCCCAGCACTTTGGGAGGCGGGCAGATCACAAGGTCAAGAGATCCAGACCATCCTGGCCAACATGGTGAAATCCCATCCCTACTAAAAATACAAAAAAATTAGCTGGGTGTGGTGGCGCGCTCCTGTAGTGCCAGCTACTCGGGAGGCTGAGGCAGGAGAATCGCTTGAACCCAGGAGGTGGAGGTTGCAGTGAGCTGAGATCGCGCCACTGCAATCCAGCCTGGCGACAGAGTGAGACTGTCTGGAAAAAAAAAAAAAAAAAGAAAGAGAGTGAAAAACAGAATGGTTGTATAGGTACCTGAAGTACAGTGTCTAAGGAATGTATGTCGCTTTTGCACCACAGTAAGTTGAAAAATTCTTAAGTTGAATTACCGTAAGTCAGGGACTATGTTGAGAAAGAACATTTCTAACACCTGCTGCAGAAAGATCCATCAATACACACAATTAATTTTAATTTCTTTTCCTTCAAAGCCTTCCTCTTAGTCTCCTTTTTTTTTTTAAGACAGAGCTTCATTCTTGTTGCCCAGGCTGGAGTGCAATGGCGTGATCTCGGCTCACCGAAACCTCCTCCTCCCGGATTCAAGTGATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGATTACAGGCATGCACCACCACGCCCAGCTAATTTTGTATTTTTAGTAGAGACGGGGTTTCTCCGCGTTGGTCAGGCTGGTCTCGAACTCCCAACCTCAGGTGATCTGCCCACCTCAGCCTCCCAAAGTACTGGGATTACAGGCGTGAGCCACCGTGCCCGGCCAGTCTCTTATTACTCAATTCCTTCTCTCTAGGCCTTTCTCAAGTCTTCCTATTTTGAGTCATCAAAGCTCTAATGAAACCTCTCTCTAGTTCCCATACTCACCCGATCACGTCCACCCTTAGTCAGCGAGACACTGGCAACAGGGAAGGAGCAGAGTGAGGTGGTGGAGGAATCACAGTCGGTCCTAAATGAGATTGGAGGAGGATACTCTGCTAAGTTAGTCTTACTAGTCCATCCATACACCTTCTTTGCCCCCTAGGGCTCCCTCCTGCCCTCCTCCCTTCTCTCAGAACAGGCACCCTTCTCTCTGTTACAAAGATGGAGAACAAATGTGGCCAGGAGATTCAAGATACCAGGATTATTTCATTCTCTTCCTATGACTTCAATGTATGTCCTCTCATTACAACAGATGTTCTTAGATGGGAATCTAGAGATACTTAAATAGTTGCATACTTCAGTGTTTCTAAAGACTTAAGGAGCTTGATAAAAATGTAAATTCCAGGGCCAAGCAGCAGCGGCTCACGCCTGTAATCCCAGCACTTTTGGAGGCCGAGGAGGGCGGATCACCTGAGGTCAGGAGTTTAAGACCAGCCTGACCAACATGGAGACACCCCATCTCTACTAAAAATACAAAATTAGCGGGGCGTGGTGGCGCATGCCTGTAATCCCACCTACTCGGGACGCTGAGGCAGAAGAATCGCCTGAACCTGGGAGGCAGAGGTTGTGGTGAGCCAAGATCACGCCACTGCACTCCAGCCTGGGCAACAAGGGTGAAACTCCATCTCAAAAAAAAAAAAAAGGAAATTCCAGGGTCCCACCCCAAGAGATTCTGATTTGGTAGCTCTGGTCTGGGTCCTAGTTTGAGAAAACGCCTCCAAAAGGATCTACAGATGGTTATTAAGAAGCTCATGAACCCCTCCAATTGTAGGCAAATTTGCATGTGGGGGTGTGGGTGCAGCATATGCCTGGGCATGCATATACGTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTTGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCACGATCTCGGCTCACTGCAAGCTCCGCTTCCCAGGTTCACGCCATTTCTCCTGCCTCAGCCTCTCAAGTAGCTGGGACAACAGGCGCCTGCCACCACGCCCGGCTAATTTTTTTATTTTTAGTAGAGACAGGGTTTCACGGTGTTAGCCAGGATAGTCTCAATCTCCTGACCTTGTGATCCGCCTGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACCGCGCCCGGCCGTATATATGTTTTTATGGCAGGAAGGGCCATAAGATCCATTTCCTAAAAGTTTAAGAAGCTCTGCTTTAGAAACTATAGCTCTGGACCAGGGACTTAAGGGAAAAAATGACTTTAAACCATTGATTATAACGCCCTTCTCTGCATCTGTTGATAGGTCCTACAACCACTGTTAAGAAAAGAGAACTAGGCCGGGCGCAGTGGCTCATGCTTGTAATCCCAGCACTTTGGGAGGCCAAGGGGGTGGATCACGAGGTCAGGAGTTCGAGATCAGCCTGGCCAACATAGTGAAACCCCATCTCTACTAAAAATACAAAAAAAAATTAGCCAGGTGTGGTGGCAGGCACCTGTAATCCCAGTTACTTGGGAGGCTGAGGCAAGGCAGGAGAATGGCTTGAATCTGGAGGCAGAGGTTGCAGTGAGCTGAGATTGCGCCACTGCACTCCAGCCCAGGCAACAGCACGAGACTCTGTCTCAAAAAGAAAAAAAAAAAAAAGAAGAAGAAGAAGAGACCTTGGTGGGGCACAGTGGCTCACGTCTGTAATCCCAGCACTTTGGGAGGCCAAGGCGGATGGATCACCTGCATTCAGGAGTTCAAGACCAGCCTAGCCAACATGGTGAAACCCCATCTCCCCAGCACTTTGGGAGGCCAAGGCAGGTGGATCACAAGGTCAGGAGATTGAGACCATCCTGGCTAACAAGGTGAAACCCCATCTCTACTAAAAAAAAAAAAAAAAAAAAAAAAAAATTAGCTGGGTATGGTGGCAGGTGCCTGTAGTACCAGCTACTCAGGAGGCTGAGGCAGGAGAATGGCGTGAGCCCAGGAGGCGGAGCTTGCAGTGAGCCGACATGGCACCACTGCACTCCAGCCTGGGCGACAGAGCAAGACTCCATCTCA
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Task1_train_15995
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This variant impacts the gene BSCL2, HNRNPUL2-BSCL2 (BSCL2 lipid droplet biogenesis associated, seipin| HNRNPUL2-BSCL2 readthrough (NMD candidate)) on Chromosome 11. Is the change likely to result in a pathogenic outcome?
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Pathogenic; Hereditary spastic paraplegia
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GCCAACATGATCAAACCCCGTCTCTATTAAAAATACAAAAATCAGCTAGGTATGGTGGCATACGCCTGTAACCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATCGATTGAACCCAGGGGGCAGAGGTTGCAGCGAGCCAAGATCGTGCCATTGCACTGTAGCCTGGGCGACAGGAAAGAAACTCCGTCTCAAATAAATAAATAAATAAATAAAACTTCAGGCTGGGTGTGGTTGCTCACGCATGTAATCCCAGCACTTTTGGAGGCCGAGGTGGGTGGATCACCTGAGGTCAGGAGTTTTAGACCAGCATGACCAACATGGTGAAACCCTGTCTCTGCTAAAAATACAAAAGTTAGCCGGGTGTGGTGGTGGGCACCTGTAATCCCAGGTACTCAGGAGGCTGAGGTGGGAGAATCGCTTGATCCCAGGAGTTGGAGGTTGCAGTGAAGTGAGATCGCGCCACTGCACTCCAGTCTTGGCGACAGAGCAAGACTCTGTCTCAAAAAAAAAAAAAGAACGTATCCTTTATGAGAGCCTCCTCTAGCTTGCCTACTATAGAGGGCCCAGTCCCCATATGCATTTCTCAGGGTTCCCAGGTTTGTTGACATCACACTGGCATCTGGCCAGTCCTCTGGCACAGTACCCTTTGTAATGACACGATGCATATATTTGACAACAGTTTCATAATGTTATATAAATGCTTTCAAAACTCTTGGGTAGATGCCCATCTTATTCCAATGTAATAGCTCATTTGTTCATTTAGGTCTAAAACATTGCTTACTTCACCTAGCAGATATTGCTCACTTTACCTAGCAGATAAATAGATCATACTTCACCTGATACAGATGGTCCTCAGTTTATGATGGGGTTACATTCCGATAAACCCATCTAAGTTGAAACTATCACAAGCTGAAAACGCATTTAGTACACCTAACCTAAAGAACATCATAGCTTACTTAGCCTAGCCTACCTTAAACATGCTCAGAACACTTATGTTAGCCTACCTATAGTTGATTACAATCATCTAACACAAAGCCTATACTTATAATAAAGTAGTGAATATCCCATGTGATTTATTGAATGCTGTACTGAACGTGAAAAACAGGCTGGGCGTGGTGGCTGACGCCTATAATCCCAGCACTTTGGGAGGCGGGCAGATCACAAGGTCAAGAGATCCAGACCATCCTGGCCAACATGGTGAAATCCCATCCCTACTAAAAATACAAAAAAATTAGCTGGGTGTGGTGGCGCGCTCCTGTAGTGCCAGCTACTCGGGAGGCTGAGGCAGGAGAATCGCTTGAACCCAGGAGGTGGAGGTTGCAGTGAGCTGAGATCGCGCCACTGCAATCCAGCCTGGCGACAGAGTGAGACTGTCTGGAAAAAAAAAAAAAAAAAGAAAGAGAGTGAAAAACAGAATGGTTGTATAGGTACCTGAAGTACAGTGTCTAAGGAATGTATGTCGCTTTTGCACCACAGTAAGTTGAAAAATTCTTAAGTTGAATTACCGTAAGTCAGGGACTATGTTGAGAAAGAACATTTCTAACACCTGCTGCAGAAAGATCCATCAATACACACAATTAATTTTAATTTCTTTTCCTTCAAAGCCTTCCTCTTAGTCTCCTTTTTTTTTTTAAGACAGAGCTTCATTCTTGTTGCCCAGGCTGGAGTGCAATGGCGTGATCTCGGCTCACCGAAACCTCCTCCTCCCGGATTCAAGTGATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGATTACAGGCATGCACCACCACGCCCAGCTAATTTTGTATTTTTAGTAGAGACGGGGTTTCTCCGCGTTGGTCAGGCTGGTCTCGAACTCCCAACCTCAGGTGATCTGCCCACCTCAGCCTCCCAAAGTACTGGGATTACAGGCGTGAGCCACCGTGCCCGGCCAGTCTCTTATTACTCAATTCCTTCTCTCTAGGCCTTTCTCAAGTCTTCCTATTTTGAGTCATCAAAGCTCTAATGAAACCTCTCTCTAGTTCCCATACTCACCCGATCACGTCCACCCTTAGTCAGCGAGACATTGGCAACAGGGAAGGAGCAGAGTGAGGTGGTGGAGGAATCACAGTCGGTCCTAAATGAGATTGGAGGAGGATACTCTGCTAAGTTAGTCTTACTAGTCCATCCATACACCTTCTTTGCCCCCTAGGGCTCCCTCCTGCCCTCCTCCCTTCTCTCAGAACAGGCACCCTTCTCTCTGTTACAAAGATGGAGAACAAATGTGGCCAGGAGATTCAAGATACCAGGATTATTTCATTCTCTTCCTATGACTTCAATGTATGTCCTCTCATTACAACAGATGTTCTTAGATGGGAATCTAGAGATACTTAAATAGTTGCATACTTCAGTGTTTCTAAAGACTTAAGGAGCTTGATAAAAATGTAAATTCCAGGGCCAAGCAGCAGCGGCTCACGCCTGTAATCCCAGCACTTTTGGAGGCCGAGGAGGGCGGATCACCTGAGGTCAGGAGTTTAAGACCAGCCTGACCAACATGGAGACACCCCATCTCTACTAAAAATACAAAATTAGCGGGGCGTGGTGGCGCATGCCTGTAATCCCACCTACTCGGGACGCTGAGGCAGAAGAATCGCCTGAACCTGGGAGGCAGAGGTTGTGGTGAGCCAAGATCACGCCACTGCACTCCAGCCTGGGCAACAAGGGTGAAACTCCATCTCAAAAAAAAAAAAAAGGAAATTCCAGGGTCCCACCCCAAGAGATTCTGATTTGGTAGCTCTGGTCTGGGTCCTAGTTTGAGAAAACGCCTCCAAAAGGATCTACAGATGGTTATTAAGAAGCTCATGAACCCCTCCAATTGTAGGCAAATTTGCATGTGGGGGTGTGGGTGCAGCATATGCCTGGGCATGCATATACGTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTTGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCACGATCTCGGCTCACTGCAAGCTCCGCTTCCCAGGTTCACGCCATTTCTCCTGCCTCAGCCTCTCAAGTAGCTGGGACAACAGGCGCCTGCCACCACGCCCGGCTAATTTTTTTATTTTTAGTAGAGACAGGGTTTCACGGTGTTAGCCAGGATAGTCTCAATCTCCTGACCTTGTGATCCGCCTGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACCGCGCCCGGCCGTATATATGTTTTTATGGCAGGAAGGGCCATAAGATCCATTTCCTAAAAGTTTAAGAAGCTCTGCTTTAGAAACTATAGCTCTGGACCAGGGACTTAAGGGAAAAAATGACTTTAAACCATTGATTATAACGCCCTTCTCTGCATCTGTTGATAGGTCCTACAACCACTGTTAAGAAAAGAGAACTAGGCCGGGCGCAGTGGCTCATGCTTGTAATCCCAGCACTTTGGGAGGCCAAGGGGGTGGATCACGAGGTCAGGAGTTCGAGATCAGCCTGGCCAACATAGTGAAACCCCATCTCTACTAAAAATACAAAAAAAAATTAGCCAGGTGTGGTGGCAGGCACCTGTAATCCCAGTTACTTGGGAGGCTGAGGCAAGGCAGGAGAATGGCTTGAATCTGGAGGCAGAGGTTGCAGTGAGCTGAGATTGCGCCACTGCACTCCAGCCCAGGCAACAGCACGAGACTCTGTCTCAAAAAGAAAAAAAAAAAAAAGAAGAAGAAGAAGAGACCTTGGTGGGGCACAGTGGCTCACGTCTGTAATCCCAGCACTTTGGGAGGCCAAGGCGGATGGATCACCTGCATTCAGGAGTTCAAGACCAGCCTAGCCAACATGGTGAAACCCCATCTCCCCAGCACTTTGGGAGGCCAAGGCAGGTGGATCACAAGGTCAGGAGATTGAGACCATCCTGGCTAACAAGGTGAAACCCCATCTCTACTAAAAAAAAAAAAAAAAAAAAAAAAAAATTAGCTGGGTATGGTGGCAGGTGCCTGTAGTACCAGCTACTCAGGAGGCTGAGGCAGGAGAATGGCGTGAGCCCAGGAGGCGGAGCTTGCAGTGAGCCGACATGGCACCACTGCACTCCAGCCTGGGCGACAGAGCAAGACTCCATCTCA
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GCCAACATGATCAAACCCCGTCTCTATTAAAAATACAAAAATCAGCTAGGTATGGTGGCATACGCCTGTAACCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATCGATTGAACCCAGGGGGCAGAGGTTGCAGCGAGCCAAGATCGTGCCATTGCACTGTAGCCTGGGCGACAGGAAAGAAACTCCGTCTCAAATAAATAAATAAATAAATAAAACTTCAGGCTGGGTGTGGTTGCTCACGCATGTAATCCCAGCACTTTTGGAGGCCGAGGTGGGTGGATCACCTGAGGTCAGGAGTTTTAGACCAGCATGACCAACATGGTGAAACCCTGTCTCTGCTAAAAATACAAAAGTTAGCCGGGTGTGGTGGTGGGCACCTGTAATCCCAGGTACTCAGGAGGCTGAGGTGGGAGAATCGCTTGATCCCAGGAGTTGGAGGTTGCAGTGAAGTGAGATCGCGCCACTGCACTCCAGTCTTGGCGACAGAGCAAGACTCTGTCTCAAAAAAAAAAAAAGAACGTATCCTTTATGAGAGCCTCCTCTAGCTTGCCTACTATAGAGGGCCCAGTCCCCATATGCATTTCTCAGGGTTCCCAGGTTTGTTGACATCACACTGGCATCTGGCCAGTCCTCTGGCACAGTACCCTTTGTAATGACACGATGCATATATTTGACAACAGTTTCATAATGTTATATAAATGCTTTCAAAACTCTTGGGTAGATGCCCATCTTATTCCAATGTAATAGCTCATTTGTTCATTTAGGTCTAAAACATTGCTTACTTCACCTAGCAGATATTGCTCACTTTACCTAGCAGATAAATAGATCATACTTCACCTGATACAGATGGTCCTCAGTTTATGATGGGGTTACATTCCGATAAACCCATCTAAGTTGAAACTATCACAAGCTGAAAACGCATTTAGTACACCTAACCTAAAGAACATCATAGCTTACTTAGCCTAGCCTACCTTAAACATGCTCAGAACACTTATGTTAGCCTACCTATAGTTGATTACAATCATCTAACACAAAGCCTATACTTATAATAAAGTAGTGAATATCCCATGTGATTTATTGAATGCTGTACTGAACGTGAAAAACAGGCTGGGCGTGGTGGCTGACGCCTATAATCCCAGCACTTTGGGAGGCGGGCAGATCACAAGGTCAAGAGATCCAGACCATCCTGGCCAACATGGTGAAATCCCATCCCTACTAAAAATACAAAAAAATTAGCTGGGTGTGGTGGCGCGCTCCTGTAGTGCCAGCTACTCGGGAGGCTGAGGCAGGAGAATCGCTTGAACCCAGGAGGTGGAGGTTGCAGTGAGCTGAGATCGCGCCACTGCAATCCAGCCTGGCGACAGAGTGAGACTGTCTGGAAAAAAAAAAAAAAAAAGAAAGAGAGTGAAAAACAGAATGGTTGTATAGGTACCTGAAGTACAGTGTCTAAGGAATGTATGTCGCTTTTGCACCACAGTAAGTTGAAAAATTCTTAAGTTGAATTACCGTAAGTCAGGGACTATGTTGAGAAAGAACATTTCTAACACCTGCTGCAGAAAGATCCATCAATACACACAATTAATTTTAATTTCTTTTCCTTCAAAGCCTTCCTCTTAGTCTCCTTTTTTTTTTTAAGACAGAGCTTCATTCTTGTTGCCCAGGCTGGAGTGCAATGGCGTGATCTCGGCTCACCGAAACCTCCTCCTCCCGGATTCAAGTGATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGATTACAGGCATGCACCACCACGCCCAGCTAATTTTGTATTTTTAGTAGAGACGGGGTTTCTCCGCGTTGGTCAGGCTGGTCTCGAACTCCCAACCTCAGGTGATCTGCCCACCTCAGCCTCCCAAAGTACTGGGATTACAGGCGTGAGCCACCGTGCCCGGCCAGTCTCTTATTACTCAATTCCTTCTCTCTAGGCCTTTCTCAAGTCTTCCTATTTTGAGTCATCAAAGCTCTAATGAAACCTCTCTCTAGTTCCCATACTCACCCGATCACGTCCACCCTTAGTCAGCGAGACACTGGCAACAGGGAAGGAGCAGAGTGAGGTGGTGGAGGAATCACAGTCGGTCCTAAATGAGATTGGAGGAGGATACTCTGCTAAGTTAGTCTTACTAGTCCATCCATACACCTTCTTTGCCCCCTAGGGCTCCCTCCTGCCCTCCTCCCTTCTCTCAGAACAGGCACCCTTCTCTCTGTTACAAAGATGGAGAACAAATGTGGCCAGGAGATTCAAGATACCAGGATTATTTCATTCTCTTCCTATGACTTCAATGTATGTCCTCTCATTACAACAGATGTTCTTAGATGGGAATCTAGAGATACTTAAATAGTTGCATACTTCAGTGTTTCTAAAGACTTAAGGAGCTTGATAAAAATGTAAATTCCAGGGCCAAGCAGCAGCGGCTCACGCCTGTAATCCCAGCACTTTTGGAGGCCGAGGAGGGCGGATCACCTGAGGTCAGGAGTTTAAGACCAGCCTGACCAACATGGAGACACCCCATCTCTACTAAAAATACAAAATTAGCGGGGCGTGGTGGCGCATGCCTGTAATCCCACCTACTCGGGACGCTGAGGCAGAAGAATCGCCTGAACCTGGGAGGCAGAGGTTGTGGTGAGCCAAGATCACGCCACTGCACTCCAGCCTGGGCAACAAGGGTGAAACTCCATCTCAAAAAAAAAAAAAAGGAAATTCCAGGGTCCCACCCCAAGAGATTCTGATTTGGTAGCTCTGGTCTGGGTCCTAGTTTGAGAAAACGCCTCCAAAAGGATCTACAGATGGTTATTAAGAAGCTCATGAACCCCTCCAATTGTAGGCAAATTTGCATGTGGGGGTGTGGGTGCAGCATATGCCTGGGCATGCATATACGTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTTGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCACGATCTCGGCTCACTGCAAGCTCCGCTTCCCAGGTTCACGCCATTTCTCCTGCCTCAGCCTCTCAAGTAGCTGGGACAACAGGCGCCTGCCACCACGCCCGGCTAATTTTTTTATTTTTAGTAGAGACAGGGTTTCACGGTGTTAGCCAGGATAGTCTCAATCTCCTGACCTTGTGATCCGCCTGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACCGCGCCCGGCCGTATATATGTTTTTATGGCAGGAAGGGCCATAAGATCCATTTCCTAAAAGTTTAAGAAGCTCTGCTTTAGAAACTATAGCTCTGGACCAGGGACTTAAGGGAAAAAATGACTTTAAACCATTGATTATAACGCCCTTCTCTGCATCTGTTGATAGGTCCTACAACCACTGTTAAGAAAAGAGAACTAGGCCGGGCGCAGTGGCTCATGCTTGTAATCCCAGCACTTTGGGAGGCCAAGGGGGTGGATCACGAGGTCAGGAGTTCGAGATCAGCCTGGCCAACATAGTGAAACCCCATCTCTACTAAAAATACAAAAAAAAATTAGCCAGGTGTGGTGGCAGGCACCTGTAATCCCAGTTACTTGGGAGGCTGAGGCAAGGCAGGAGAATGGCTTGAATCTGGAGGCAGAGGTTGCAGTGAGCTGAGATTGCGCCACTGCACTCCAGCCCAGGCAACAGCACGAGACTCTGTCTCAAAAAGAAAAAAAAAAAAAAGAAGAAGAAGAAGAGACCTTGGTGGGGCACAGTGGCTCACGTCTGTAATCCCAGCACTTTGGGAGGCCAAGGCGGATGGATCACCTGCATTCAGGAGTTCAAGACCAGCCTAGCCAACATGGTGAAACCCCATCTCCCCAGCACTTTGGGAGGCCAAGGCAGGTGGATCACAAGGTCAGGAGATTGAGACCATCCTGGCTAACAAGGTGAAACCCCATCTCTACTAAAAAAAAAAAAAAAAAAAAAAAAAAATTAGCTGGGTATGGTGGCAGGTGCCTGTAGTACCAGCTACTCAGGAGGCTGAGGCAGGAGAATGGCGTGAGCCCAGGAGGCGGAGCTTGCAGTGAGCCGACATGGCACCACTGCACTCCAGCCTGGGCGACAGAGCAAGACTCCATCTCA
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Task1_train_15996
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Here is a mutation in ATL3 (atlastin GTPase 3) on Chromosome 11. Determine whether it’s benign or pathogenic. If the latter, what disease does it cause?
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Pathogenic; Neuropathy, hereditary sensory, type 1F
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CCATCCTCCTGCCAGTGCGTGCCACCACGCTTGGCTAACTTTTTAAGTTTTTGTTTTGCAGAGCTAGAGTCTCCCTATATTGCCCAAGCTGATGTTGAACTCCCAGGCTCAAGTGATCTGCCCACCTCAGCCTCCCAAAGTGCTGGGATTACAGGAGTAAGCCACCACACCTGGCTCCATTGCTCCAACTTTAAGAAATAGATGTGAGTCAAAAAAAAAAAAAAAAGAAGAAGGAAAGGTTGGGCGTGGTGGCTCACGCCTGTAATCCCAGCACTTTGGCACTTTGGGAGGCCGAGGCTGGCGGATCATAAGGTCAGGAGTTCAAGACCAGCCTGGCCAACATGTTGAAACCCCATCTCTACCAAAAACACAAAAAAATTAGCCAGGCGTGGTGATGTGCGCCTGTAGTCCCAGCTACTCAGGAGGCTGAGGCAGGAGAACTACTTGAACCCAGGAGGTAGAGGTTGCAGTGAGCCGAGATCACGCCACTGCACTCCAGCCTGAGCAATAGAGCAAGACTCTGTCTCAAACAAAAAAAAAAAAAAAAAAAAGGAAAAAGCCGGGTGTGGTGGCTTACGCCTGTAATCCCAGCACTTTGAGAGGCTGAGGTGGGAGGATCACTTGAGTCCAAGAATTCAACACCAGCCTGCTCAACACAGCTAGATCCTGTTTCTATTTAAAAAAAAAAAAAAAAAAGAAGAAGAAGAAAAAAAAGGGGGCTGGGCGCGGTGACTCACGCCTGTAATCCCAGCACTTTGGGAGGCTGAGGCGGGCAGATCACGAGGTCAGGAGATCGAGATCATCCTGGCTAACACGGTGAAACCCTGTCTCTACTAAAAATACAAAGAAATTAGCCGGGCGTGGTGGCAGGCGCCTGCAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCAGGAGGTGGAGCTTGCAGTGAGCCGAGATTGTGCCACTGCACTCCAGCCTGGGCAACAGAGCAAGATTCCACCTCAAAAAAAAAAAGGAAAAAATTATTTGCAATGTCAATCCCAGGCTCTAGCTCCCTTTATGAAAATTTTCTGCTACAAAATAAATCAACACTTGGCAATAAATCCCCTTATGTTCAACATATGAAAGTCAAAAATTATGTTTTAACCAAATGACATTCTAGTTGCAAATTAAAAACCTGATTAGTGAATAGTAAACAGGTGTGTCAGGACATGTTCCACTAAAGTAAATAACAGGTCAGGCACAGTGGCTTACACCTGTAATCTTAGCACTTCGGGAAGCTGAGGCAGGCACATCGCTTGAGCCAAGTTTGAGACCAGCCTGGGCGACACAGCAAGACCACATCCCTATTTTTTTCTTTTAATTAAAAAAATTATAGCCAGGCATGGTGGCTCACCCCTATAATCCCAGCACTTTGGGAGGCCAAGACGGTCGGATTGCTTGAGTCCAGGAGTTGGAGACCAGCCTGGGCAACATGGCTAAACCGATCTCTATTAAAAAATACAAAAATTAGCCAGGCATGGTGGTACATGCCTATAATCCCAGCTACTCGGGAGGCTGAGGTATAAGAATCACTTGAACCCAGGAGGTGGAGGTTGCGGTGAGCCAAGATTGTGCCACTGCACTCCAGCCTTGGCAAGAGTGAGACTCTTGTCTCAAAAAAATAATAAATTAGAAATTATATAAAAATAAAAAAAATAAACAACAGATGACAAGAACTTGCTTGTCTAACATGGTGGGTATGTTTCAACCACGTATAATAAACTGTGCTTCCCAAAGTGTGTTTGGTGAAAAGACTAGGCCCAGTGAGGAGAGGCCATTTCGTTTTAACTGTACCACCATGAATACAAACAAGTGAACTAGAAAAGGTCGCCACACTACTGCAAAATGTGCTAAAAAAAAATTAACAGACCTCAGCATGATGAAAAAGGAGAAAAAGTGCATTCTCTTCCTAAAGAACTCTGCTTATTGTATACAGGTCAACTCAAGTAATTTAAGGGTAGCGTTTAGGATGTCAAATCATTGTTTACCTGAAGCATGGACTTGGGGTGAGGCAGATCTTCTCCTTGATAAATTTTAATATATGCCTTAAAATATAAACATAAAAACTGCTATAAAATGTTATTCAGTCATATCTTACTCATATTTAATTTTTAGAAAGTGACCATACAACTGCATTTTCCTAAAGACTTAGGTCAACAACCAGGAATTAGCAAAAACACACCACACACCTTTGAGTGCATGTTAGCATTTTTAGTTAACTAAAAATGTTCTCAAGCAGCACAAGCCTACAGAGGCTAGGATTCCCATCCAGCTCCCCATGCACGCTGGCCTCACCACTACCTGTGGGCAGAGTGACCATCCGCCTTGAGGTAGTCGTGTCACATCTAGGTGCCGTCTCCTCCTACTCACAGCAACTTCCTAACCACCTCCTGTCCACACCATCTTCCTTGAGGAACAATCTTCCTTTAGTCACAGCTAATTGCTCCTCTAAGAGAGTGCAAAGAACATCCATTTGGTTCTTAGACCGATACTGCCACCCAATGGCCCACTCCTGGAAGGACACCAAGGTCTCTGAAAATGCCTCTCACCATCTCCCCCAGAAAATTTTTAAGTTTCAAAATATTTAAATTCAAGTTGATTTACGAGTGAGATCAGCTTTACCAAAAATCAAACATTTTAATAACTAAAACCCATATTTACCTTAAAATACTCCAGTAGTCCCCGACAGGTGACCTTTGAGCCATTGATCTCCTTTTCCATTAACTTAGATGGGTTTAATACATACGGTATCAGTGCCTGTAACTGCTCTTTGAATTCACCAGCAATATCTGTTCACAGGACGACAAAGAAGGGAAAAATAAGCCAAACAGCCTTATTCAACCAAGGTGAACACACAATGCAGTCTTCCCAGTCTAGTGCTTTTAACATTGGTTGTTAAAAGTGAGAGAGAAGCCGGGCACGGTGGCTCACGCCTATAATCCTAGCACTTTGGGAGGCCGAGGCAGGTGGATTGCCTAAGGTCAGGAGTTCGAGACCAGCCTGACCAACATGGTGAAACCCCGTCTCTACTAAAAATAGAAAAACTAGCCAGGCGTGGTGGCAGGTGCCTGTAATCCTAGCTACTCAGGAGGCTGAGGCAGGAGAATCTCTTGAACCCAGGAGGAGGAGGTTGCAGTGAGCCAAGATTGCACCATTGCACTCCAGGCTGGGAAACAAGAGTGAAACTCCATCTCAAGAAAAAAAAAAAAAAAGTGGGAGAGAAGAAGGGGTCTGAGACTATGTTTTGACACTTTCTGGCTATGACCAAGTTGCTGACAGATCTCTGTCCCAATGTACCTTCATTTTTCTCCTTCCCCACTGTAGTAGAAAGTCTTCTCTAGTTCAAAATAGAATACTATATATGCAGAATATCTTTACCTTGGTTTTCATTCTGGGATATCTGGTCTACTCCCTAGCCTTTCAAGAAATTTCACTTTTTAAAGAATTTGATGGCCGTGCGTGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGTCAAGGCGGGTGGATCACGAGGTCAGGAGTTCCAGACCAGTCTGGCCAAGATGGTGAAACCCCGTCTCTACTAAACATACAAAAATTAGCCGGGGGTGGTGGCGGGCACCTGTAATCCCAGCTACTCGGGAGGCTGAAGCAGAGAATAGCTTGAACCCGGAAGGCAGAGGTTGCAGTGAGCCGAGATCGCACCACTGCACTCCAGCCTGGGCAACAGAGTGAGACTCCATCTCAGAAAAAAAAAAAAAGAATTTCATTAACAGGGTCTTCAACAAGTCAATTTTCAACCTCTCAAGTTGTCTCAGGCCTTTGCCATGCCCTCACACTACTACTCCTTTAAATCAATTAGAAATCACTGGTCATTGATTTATTCTTGTTAATTTTTTTAATGTTAAAAGAAGTAGAAGTACCTGTGCCTCATTATATTTATTTTCTATTATCTCCTCAGAGACCCTCGGAACCACCCCAAAATGAAAAGACCACTAACTCAAGAAAGGTGACAGATTCTCTGCAGCTTCTACAAGGTTCCCACAGAGGGATCAGTACAGCCATTAAATAGAG
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CCATCCTCCTGCCAGTGCGTGCCACCACGCTTGGCTAACTTTTTAAGTTTTTGTTTTGCAGAGCTAGAGTCTCCCTATATTGCCCAAGCTGATGTTGAACTCCCAGGCTCAAGTGATCTGCCCACCTCAGCCTCCCAAAGTGCTGGGATTACAGGAGTAAGCCACCACACCTGGCTCCATTGCTCCAACTTTAAGAAATAGATGTGAGTCAAAAAAAAAAAAAAAAGAAGAAGGAAAGGTTGGGCGTGGTGGCTCACGCCTGTAATCCCAGCACTTTGGCACTTTGGGAGGCCGAGGCTGGCGGATCATAAGGTCAGGAGTTCAAGACCAGCCTGGCCAACATGTTGAAACCCCATCTCTACCAAAAACACAAAAAAATTAGCCAGGCGTGGTGATGTGCGCCTGTAGTCCCAGCTACTCAGGAGGCTGAGGCAGGAGAACTACTTGAACCCAGGAGGTAGAGGTTGCAGTGAGCCGAGATCACGCCACTGCACTCCAGCCTGAGCAATAGAGCAAGACTCTGTCTCAAACAAAAAAAAAAAAAAAAAAAAGGAAAAAGCCGGGTGTGGTGGCTTACGCCTGTAATCCCAGCACTTTGAGAGGCTGAGGTGGGAGGATCACTTGAGTCCAAGAATTCAACACCAGCCTGCTCAACACAGCTAGATCCTGTTTCTATTTAAAAAAAAAAAAAAAAAAGAAGAAGAAGAAAAAAAAGGGGGCTGGGCGCGGTGACTCACGCCTGTAATCCCAGCACTTTGGGAGGCTGAGGCGGGCAGATCACGAGGTCAGGAGATCGAGATCATCCTGGCTAACACGGTGAAACCCTGTCTCTACTAAAAATACAAAGAAATTAGCCGGGCGTGGTGGCAGGCGCCTGCAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCAGGAGGTGGAGCTTGCAGTGAGCCGAGATTGTGCCACTGCACTCCAGCCTGGGCAACAGAGCAAGATTCCACCTCAAAAAAAAAAAGGAAAAAATTATTTGCAATGTCAATCCCAGGCTCTAGCTCCCTTTATGAAAATTTTCTGCTACAAAATAAATCAACACTTGGCAATAAATCCCCTTATGTTCAACATATGAAAGTCAAAAATTATGTTTTAACCAAATGACATTCTAGTTGCAAATTAAAAACCTGATTAGTGAATAGTAAACAGGTGTGTCAGGACATGTTCCACTAAAGTAAATAACAGGTCAGGCACAGTGGCTTACACCTGTAATCTTAGCACTTCGGGAAGCTGAGGCAGGCACATCGCTTGAGCCAAGTTTGAGACCAGCCTGGGCGACACAGCAAGACCACATCCCTATTTTTTTCTTTTAATTAAAAAAATTATAGCCAGGCATGGTGGCTCACCCCTATAATCCCAGCACTTTGGGAGGCCAAGACGGTCGGATTGCTTGAGTCCAGGAGTTGGAGACCAGCCTGGGCAACATGGCTAAACCGATCTCTATTAAAAAATACAAAAATTAGCCAGGCATGGTGGTACATGCCTATAATCCCAGCTACTCGGGAGGCTGAGGTATAAGAATCACTTGAACCCAGGAGGTGGAGGTTGCGGTGAGCCAAGATTGTGCCACTGCACTCCAGCCTTGGCAAGAGTGAGACTCTTGTCTCAAAAAAATAATAAATTAGAAATTATATAAAAATAAAAAAAATAAACAACAGATGACAAGAACTTGCTTGTCTAACATGGTGGGTATGTTTCAACCACGTATAATAAACTGTGCTTCCCAAAGTGTGTTTGGTGAAAAGACTAGGCCCAGTGAGGAGAGGCCATTTCGTTTTAACTGTACCACCATGAATACAAACAAGTGAACTAGAAAAGGTCGCCACACTACTGCAAAATGTGCTAAAAAAAAATTAACAGACCTCAGCATGATGAAAAAGGAGAAAAAGTGCATTCTCTTCCTAAAGAACTCTGCTTATTGTATACAGGTCAACTCAAGTAATTTAAGGGTAGCGTTTAGGATGTCAAATCATTGTTTACCTGAAGCATGGACTTGGGGTGACGCAGATCTTCTCCTTGATAAATTTTAATATATGCCTTAAAATATAAACATAAAAACTGCTATAAAATGTTATTCAGTCATATCTTACTCATATTTAATTTTTAGAAAGTGACCATACAACTGCATTTTCCTAAAGACTTAGGTCAACAACCAGGAATTAGCAAAAACACACCACACACCTTTGAGTGCATGTTAGCATTTTTAGTTAACTAAAAATGTTCTCAAGCAGCACAAGCCTACAGAGGCTAGGATTCCCATCCAGCTCCCCATGCACGCTGGCCTCACCACTACCTGTGGGCAGAGTGACCATCCGCCTTGAGGTAGTCGTGTCACATCTAGGTGCCGTCTCCTCCTACTCACAGCAACTTCCTAACCACCTCCTGTCCACACCATCTTCCTTGAGGAACAATCTTCCTTTAGTCACAGCTAATTGCTCCTCTAAGAGAGTGCAAAGAACATCCATTTGGTTCTTAGACCGATACTGCCACCCAATGGCCCACTCCTGGAAGGACACCAAGGTCTCTGAAAATGCCTCTCACCATCTCCCCCAGAAAATTTTTAAGTTTCAAAATATTTAAATTCAAGTTGATTTACGAGTGAGATCAGCTTTACCAAAAATCAAACATTTTAATAACTAAAACCCATATTTACCTTAAAATACTCCAGTAGTCCCCGACAGGTGACCTTTGAGCCATTGATCTCCTTTTCCATTAACTTAGATGGGTTTAATACATACGGTATCAGTGCCTGTAACTGCTCTTTGAATTCACCAGCAATATCTGTTCACAGGACGACAAAGAAGGGAAAAATAAGCCAAACAGCCTTATTCAACCAAGGTGAACACACAATGCAGTCTTCCCAGTCTAGTGCTTTTAACATTGGTTGTTAAAAGTGAGAGAGAAGCCGGGCACGGTGGCTCACGCCTATAATCCTAGCACTTTGGGAGGCCGAGGCAGGTGGATTGCCTAAGGTCAGGAGTTCGAGACCAGCCTGACCAACATGGTGAAACCCCGTCTCTACTAAAAATAGAAAAACTAGCCAGGCGTGGTGGCAGGTGCCTGTAATCCTAGCTACTCAGGAGGCTGAGGCAGGAGAATCTCTTGAACCCAGGAGGAGGAGGTTGCAGTGAGCCAAGATTGCACCATTGCACTCCAGGCTGGGAAACAAGAGTGAAACTCCATCTCAAGAAAAAAAAAAAAAAAGTGGGAGAGAAGAAGGGGTCTGAGACTATGTTTTGACACTTTCTGGCTATGACCAAGTTGCTGACAGATCTCTGTCCCAATGTACCTTCATTTTTCTCCTTCCCCACTGTAGTAGAAAGTCTTCTCTAGTTCAAAATAGAATACTATATATGCAGAATATCTTTACCTTGGTTTTCATTCTGGGATATCTGGTCTACTCCCTAGCCTTTCAAGAAATTTCACTTTTTAAAGAATTTGATGGCCGTGCGTGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGTCAAGGCGGGTGGATCACGAGGTCAGGAGTTCCAGACCAGTCTGGCCAAGATGGTGAAACCCCGTCTCTACTAAACATACAAAAATTAGCCGGGGGTGGTGGCGGGCACCTGTAATCCCAGCTACTCGGGAGGCTGAAGCAGAGAATAGCTTGAACCCGGAAGGCAGAGGTTGCAGTGAGCCGAGATCGCACCACTGCACTCCAGCCTGGGCAACAGAGTGAGACTCCATCTCAGAAAAAAAAAAAAAGAATTTCATTAACAGGGTCTTCAACAAGTCAATTTTCAACCTCTCAAGTTGTCTCAGGCCTTTGCCATGCCCTCACACTACTACTCCTTTAAATCAATTAGAAATCACTGGTCATTGATTTATTCTTGTTAATTTTTTTAATGTTAAAAGAAGTAGAAGTACCTGTGCCTCATTATATTTATTTTCTATTATCTCCTCAGAGACCCTCGGAACCACCCCAAAATGAAAAGACCACTAACTCAAGAAAGGTGACAGATTCTCTGCAGCTTCTACAAGGTTCCCACAGAGGGATCAGTACAGCCATTAAATAGAG
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Task1_train_15997
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This alteration in ATL3 (atlastin GTPase 3) on Chromosome 11 may affect gene function. Does it lead to a disease or is it benign?
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Pathogenic; Neuropathy, hereditary sensory, type 1F
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ACCTCAGCCTCCCAAGTAGCCGGGACTACAAGCACATGCCACTACTCCTGGCTTATTTTTTAATTTTTTTATATAGACAAGGTCTTGCTCTGTTGCCCAGGCTGGTCTTGAACTCTAGGCCTCAAGCAATCCTGTGGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACCACACCCGGCCAGATTTATCTATTCTGTAATGTCTTAGAAGTTTTACAAACACTGGAGGGACATGTTTAAGCCAAATATGAGGTCAATATATCCTATCTGCTATTTTTGTTCCCACAGGTTAGTAGGAACAGAAGGAAGACATTAATGAGAAAATGGTAAATTTGGGACTCTGCCTTAAAGAAATCTATGGGGAATACAGTAAAGGACAAAAGAGAAAACCACATGGCACCAGCTAATCATAAAATCAGATCTGTGGCCGGGCACAGTGGCTCACGCCTGTATCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATCACTTGAACCCAGGAGGAGGAGGTTGCAGTGAGGCGAGATCACGCCACTGCACTCCAGCCTGGGTGACAGAGCGAGACTCTGTCTCCAAAAAAGAAAAAAATCAGGTCTGTTTTCAGCATTAGAAAGGAAGGCCAGCCACCGTGGCTCATGCCTATAATCCCTTTACTCTGGGAGGCCGAAGCAGGTGGGTCACCTGAGCTCAGGAGTTTGAGACCAGCCGGTCAACATGATGAAACCCCATCTCTACAAAAAATACAAAAAATTAGCCGGGCGCCTGAAATCCCAGCTACTCAGGAGGGTGAGGAAGGAGAATTGCTTGAACCTGGGAGGCAGAGGTTGCAGTGAGCCAAGATCATGCTACTGCACTCCAGCCTGGGCAAAATTTTAGAAAGAAACTCCATCTCAAAAAAAAAAAATAAATTAGAAAAGAAAAGAAATAAGGCTTACACACTGAAAGCACCTCTAATCCCATTGACTGAGGCTGCTGTGCTTCCTCATTCTCAAGAAACACTGAACTGAGGCATAGGTCAGCAAAGACTTTTTGCAGAGAGAGAGAGAGAGAGAGAGACAGAGAGAGACAGAGAGTGAGTGAGTGTGTATGTGTGTGTTTGTGTTGAGACGGTCTTGCTTTGTTACCCAGGCTGGAGTGCAGTGGCACAATCATGGCTCACTGCAGCCTTGACCTCCTAGGCTTAAGTGATCCTCCTACCTCAACCCCACCGAGTAGCTGGGACTACAGGCGTGCACGACCTTTTTATTTTATTTTATTTTTGTTTTTTTCTTTTTTTTTGAGACAAAGTCTTGCTCTGTCGCCCAGGCTGGAGTATAGTGGCATGACCTCGGCTCACTGTAACCTTCACCTACCAGGCTCGAGCGACTCTCCTGCCTTAGCCTCCTGAGTAGCTAAGATTACAGGCACCCACCACCACGCCCAGCTGATTTTTGTATTTTTAGTAGAGACAGGTTCCATGTTGGCCAAGCTGGTCTCGAACTCTTGACCTCAGGTGATCTGCCTGCTTTGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACTGTACCTACCCCCATTTTTTTAAGAGATGTCTTGCTATGTTGCCCAGGCTGGTCTCAAACTCCTGGGCTCTAGCAATTCTTCCACCTGGGTCTCCCCAAAGTGCTGGGATTACAGGTGTAAGCTACCACGCCCAACCCACAGAGCTTACTTTTTAAGCGATTACTCTGCCGTTGTAGCAGGAAAGCCGTCACAGACAGTACAAAGACAAATGAGCATGGCTGTGTTACACTAAAATTTTACCTACAGACAATGACACTTGAATTTCAGGTAATTTACGTGTCATAAAATAGTACTGCTCATTTTTTTCAACCATTTAAAAATGTAAAAACCATTCTTAGCTCACAAGTCATATAAAAACAGGTGGCAAGCTAGATTTGGCCTATGAGCTGTAGTTTGCCAATCTGTGAAAACAAAAACAAAGGTATGAATTATATTTAAAATAAATATTCTAACCTGGAAAGGCTTTTGGAAAATTTCATCCATTGCCAGACGACCGTATTCTGTGAAGAGCTTTAAAAAAGAAGCATTATGGTTTGTAAAGCAAAATTACTTAAAATAGTTCTATGGCCTTTTTAGCAAAGTATTCATTATATTTATACTGATACCAGACTTCTACAGTTTCAAAAGCCCACAGGAGTCATGAACCTTAAAATCATCTTGGTTATTCCCTGCTCACATCCCACATCCCAATTCATCAACAAATCCAGAATCCAGCCACTCACTATTTCCATGTGGCTTGGAATACTGCAATAGCCTCCTAACTGCCTCAGCCCATGCCTCCCTATGGGCTATTCTCAACACAGCAGCCACATTGACTCTTTTATAATATGGTTAGTTAGATCATATAATGGCTTTGCTCAAAACCCCACAACCTCATTCAGTATTAAAGCCAGTCCTTACAGTGTGATGCAGCCACACTGGCCCTCCTTCCTGTTCTTCAAATACACGGGGCACACCGCTGCCTTAGGACCTTCGTACTGGCTCCTCCCACTAACTATAAGTTCTTCTCCCAAATTTCCTCATGATCTGCTCCCTCACTTCTTAAGGTCTTTCAAATAGCTCCTTCTCAGTGAAGACTTCCATGGCCATCTACCGAAAAAGATTACAAGTTTGCCAATAATATTTCCTACTTCGTGTCTTTAAAAAAAAATTTTTTTTTTTGAGACAGAGTTGTGCTCTTGTTGCCCAGGCTGGAGCGTAATGGCGCGTGGCTCATCGCAACCTCCGCCTCCCGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCAGGTAGCTGGGATTACAGGCATGTGCCACCACACCTGGCTAATTTTGTATTTTTAGTAGAGACGGGGTTTCTCCATGTTGGTCAGGCTGGTCTTGAACTCCTGACCTCAGGTGATCCACCTGCCTCGGCCTTCCAAAGTGCTGGGATTACAGGCGTGAGCCACCACACCCAGTCTTAAAAGTTTTTTTCTTAACATTTATCATTATCTAATATACTATACCTCTTCTTGATTTGATTTGCATCTGTCTTTATACTAGCATTTAAACTCCATGAGGGCAGGAATATTTGTCTGTTTTGTGCACTACTGGATTTCCAGCAGCAAGAAAAGTATTAGGCCCATAATATTTATGTCATTCAAATGACTGAATTCTTTAAGGTTAAGGTTTACATGTATATTTACCTCTAAATCTTCAGGAAGCCTCACTAAAAGCATAACAAAACAAACTTTAAAAGTAAATAAATAAACAGGACAAAGCAGCCAGCAGAAAAGCCCTGTCAAAAACATTCTGGATGGAAAATAGACAAATGAGAACTGTCTCAAGTTTTGGCTTTCTCTGTTCTGCTAAGAAATCTGGAAGAGACAGGGGCCAACAAGGAAGAAGCAAATTATCTCAGTAGAAATCCCTGAAATGCTCAGAAATTATAAGCATACAGTTACCTTACAGGAGGAGGTGTAGGAGTCCAGCTGACAACTAGGAAATATGTGAGTCTTAGGAGAAAGTACCTACACTTCCAGGCACCCCTCTCTAACTGCCGTATTTTTCCTGCCTCCATAGAAGATGGGAAGTGTACTATCTGGAGAAGATAAATCCAAAAAAAAATCTAGACTTAGATACCAAACTCAGCTGAGGTTAGGAGTAAGTCTCCTACCTTCAAACAGGTACTTAAATCAAAGTCCACATAGTGAGCAGTGGGACTCCTTAGCCCTCTCACCCTACTGGTTGCCACAGCAAGCTTCTACCCACCAAGGCAGGAATTTAAAGAAATTTTTTCCAGGGAAACTAACAACCCAAGAATAAATATCTGCAAAAAAAATAGACATTTAGGAGTTGGCAACAAAATAGCTAGATAACCTTGCCAAACCACCTACCTCATTGTGATCCAAACCAGTACACAAGGCCTATCCTCTTATCAAAGCTCCCAGTTGGATTGTTAGTGGCTCTCTCTTAAATAGGTAGTCAAGGACCACCAGCTAGACATTTGAGAAAAGCCTCTTAGCAGGGCTGGCCGCTCTAATCCCAGCACTTTGGGAGGCCAAGGCAGGGAGATCACTTGAGGT
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ACCTCAGCCTCCCAAGTAGCCGGGACTACAAGCACATGCCACTACTCCTGGCTTATTTTTTAATTTTTTTATATAGACAAGGTCTTGCTCTGTTGCCCAGGCTGGTCTTGAACTCTAGGCCTCAAGCAATCCTGTGGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACCACACCCGGCCAGATTTATCTATTCTGTAATGTCTTAGAAGTTTTACAAACACTGGAGGGACATGTTTAAGCCAAATATGAGGTCAATATATCCTATCTGCTATTTTTGTTCCCACAGGTTAGTAGGAACAGAAGGAAGACATTAATGAGAAAATGGTAAATTTGGGACTCTGCCTTAAAGAAATCTATGGGGAATACAGTAAAGGACAAAAGAGAAAACCACATGGCACCAGCTAATCATAAAATCAGATCTGTGGCCGGGCACAGTGGCTCACGCCTGTATCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATCACTTGAACCCAGGAGGAGGAGGTTGCAGTGAGGCGAGATCACGCCACTGCACTCCAGCCTGGGTGACAGAGCGAGACTCTGTCTCCAAAAAAGAAAAAAATCAGGTCTGTTTTCAGCATTAGAAAGGAAGGCCAGCCACCGTGGCTCATGCCTATAATCCCTTTACTCTGGGAGGCCGAAGCAGGTGGGTCACCTGAGCTCAGGAGTTTGAGACCAGCCGGTCAACATGATGAAACCCCATCTCTACAAAAAATACAAAAAATTAGCCGGGCGCCTGAAATCCCAGCTACTCAGGAGGGTGAGGAAGGAGAATTGCTTGAACCTGGGAGGCAGAGGTTGCAGTGAGCCAAGATCATGCTACTGCACTCCAGCCTGGGCAAAATTTTAGAAAGAAACTCCATCTCAAAAAAAAAAAATAAATTAGAAAAGAAAAGAAATAAGGCTTACACACTGAAAGCACCTCTAATCCCATTGACTGAGGCTGCTGTGCTTCCTCATTCTCAAGAAACACTGAACTGAGGCATAGGTCAGCAAAGACTTTTTGCAGAGAGAGAGAGAGAGAGAGAGACAGAGAGAGACAGAGAGTGAGTGAGTGTGTATGTGTGTGTTTGTGTTGAGACGGTCTTGCTTTGTTACCCAGGCTGGAGTGCAGTGGCACAATCATGGCTCACTGCAGCCTTGACCTCCTAGGCTTAAGTGATCCTCCTACCTCAACCCCACCGAGTAGCTGGGACTACAGGCGTGCACGACCTTTTTATTTTATTTTATTTTTGTTTTTTTCTTTTTTTTTGAGACAAAGTCTTGCTCTGTCGCCCAGGCTGGAGTATAGTGGCATGACCTCGGCTCACTGTAACCTTCACCTACCAGGCTCGAGCGACTCTCCTGCCTTAGCCTCCTGAGTAGCTAAGATTACAGGCACCCACCACCACGCCCAGCTGATTTTTGTATTTTTAGTAGAGACAGGTTCCATGTTGGCCAAGCTGGTCTCGAACTCTTGACCTCAGGTGATCTGCCTGCTTTGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACTGTACCTACCCCCATTTTTTTAAGAGATGTCTTGCTATGTTGCCCAGGCTGGTCTCAAACTCCTGGGCTCTAGCAATTCTTCCACCTGGGTCTCCCCAAAGTGCTGGGATTACAGGTGTAAGCTACCACGCCCAACCCACAGAGCTTACTTTTTAAGCGATTACTCTGCCGTTGTAGCAGGAAAGCCGTCACAGACAGTACAAAGACAAATGAGCATGGCTGTGTTACACTAAAATTTTACCTACAGACAATGACACTTGAATTTCAGGTAATTTACGTGTCATAAAATAGTACTGCTCATTTTTTTCAACCATTTAAAAATGTAAAAACCATTCTTAGCTCACAAGTCATATAAAAACAGGTGGCAAGCTAGATTTGGCCTATGAGCTGTAGTTTGCCAATCTGTGAAAACAAAAACAAAGGTATGAATTATATTTAAAATAAATATTCTAACCTGGAAAGGCTTTTGGAAAATTTCATCCATTGCCAGACGACCGCATTCTGTGAAGAGCTTTAAAAAAGAAGCATTATGGTTTGTAAAGCAAAATTACTTAAAATAGTTCTATGGCCTTTTTAGCAAAGTATTCATTATATTTATACTGATACCAGACTTCTACAGTTTCAAAAGCCCACAGGAGTCATGAACCTTAAAATCATCTTGGTTATTCCCTGCTCACATCCCACATCCCAATTCATCAACAAATCCAGAATCCAGCCACTCACTATTTCCATGTGGCTTGGAATACTGCAATAGCCTCCTAACTGCCTCAGCCCATGCCTCCCTATGGGCTATTCTCAACACAGCAGCCACATTGACTCTTTTATAATATGGTTAGTTAGATCATATAATGGCTTTGCTCAAAACCCCACAACCTCATTCAGTATTAAAGCCAGTCCTTACAGTGTGATGCAGCCACACTGGCCCTCCTTCCTGTTCTTCAAATACACGGGGCACACCGCTGCCTTAGGACCTTCGTACTGGCTCCTCCCACTAACTATAAGTTCTTCTCCCAAATTTCCTCATGATCTGCTCCCTCACTTCTTAAGGTCTTTCAAATAGCTCCTTCTCAGTGAAGACTTCCATGGCCATCTACCGAAAAAGATTACAAGTTTGCCAATAATATTTCCTACTTCGTGTCTTTAAAAAAAAATTTTTTTTTTTGAGACAGAGTTGTGCTCTTGTTGCCCAGGCTGGAGCGTAATGGCGCGTGGCTCATCGCAACCTCCGCCTCCCGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCAGGTAGCTGGGATTACAGGCATGTGCCACCACACCTGGCTAATTTTGTATTTTTAGTAGAGACGGGGTTTCTCCATGTTGGTCAGGCTGGTCTTGAACTCCTGACCTCAGGTGATCCACCTGCCTCGGCCTTCCAAAGTGCTGGGATTACAGGCGTGAGCCACCACACCCAGTCTTAAAAGTTTTTTTCTTAACATTTATCATTATCTAATATACTATACCTCTTCTTGATTTGATTTGCATCTGTCTTTATACTAGCATTTAAACTCCATGAGGGCAGGAATATTTGTCTGTTTTGTGCACTACTGGATTTCCAGCAGCAAGAAAAGTATTAGGCCCATAATATTTATGTCATTCAAATGACTGAATTCTTTAAGGTTAAGGTTTACATGTATATTTACCTCTAAATCTTCAGGAAGCCTCACTAAAAGCATAACAAAACAAACTTTAAAAGTAAATAAATAAACAGGACAAAGCAGCCAGCAGAAAAGCCCTGTCAAAAACATTCTGGATGGAAAATAGACAAATGAGAACTGTCTCAAGTTTTGGCTTTCTCTGTTCTGCTAAGAAATCTGGAAGAGACAGGGGCCAACAAGGAAGAAGCAAATTATCTCAGTAGAAATCCCTGAAATGCTCAGAAATTATAAGCATACAGTTACCTTACAGGAGGAGGTGTAGGAGTCCAGCTGACAACTAGGAAATATGTGAGTCTTAGGAGAAAGTACCTACACTTCCAGGCACCCCTCTCTAACTGCCGTATTTTTCCTGCCTCCATAGAAGATGGGAAGTGTACTATCTGGAGAAGATAAATCCAAAAAAAAATCTAGACTTAGATACCAAACTCAGCTGAGGTTAGGAGTAAGTCTCCTACCTTCAAACAGGTACTTAAATCAAAGTCCACATAGTGAGCAGTGGGACTCCTTAGCCCTCTCACCCTACTGGTTGCCACAGCAAGCTTCTACCCACCAAGGCAGGAATTTAAAGAAATTTTTTCCAGGGAAACTAACAACCCAAGAATAAATATCTGCAAAAAAAATAGACATTTAGGAGTTGGCAACAAAATAGCTAGATAACCTTGCCAAACCACCTACCTCATTGTGATCCAAACCAGTACACAAGGCCTATCCTCTTATCAAAGCTCCCAGTTGGATTGTTAGTGGCTCTCTCTTAAATAGGTAGTCAAGGACCACCAGCTAGACATTTGAGAAAAGCCTCTTAGCAGGGCTGGCCGCTCTAATCCCAGCACTTTGGGAGGCCAAGGCAGGGAGATCACTTGAGGT
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Task1_train_15998
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Given this context: Chromosome 11, gene PLCB3 (phospholipase C beta 3) — does this variant present pathogenic behavior, and if so, what disease does it relate to?
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Pathogenic; Spondylometaphyseal dysplasia with corneal dystrophy
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GCCAGCTTGTTGCGCTCAACTTCCAGACCCTCGGTGAGCCCTGGCCCCCTCCATCTTGACCCCGACCCTCAGTCTTACTGACTTCTGACCCACGATCCTGCTGGTCTTGCCTGAATGGACCTCTGACCCTGTCTCATCCCAGATCCCAGGGGAACCCAGCTCCCGACTCACCCCGCCTCCTGCCCTTGGCTGATACCAGACCCCTCCCCTGTCTGATCTGTCCTGGATCCGGACCCTGATGCCATTTGAGCCCGCCCCTGACCCTGGACCTTGGATGCCATCTGACCTGATGATCTCCCATTCCCCACATGGCACCGTCCTGCCTGATCCCTGCCCCTGCTCGACGTGCCCGTGGCACCCCAGATGTGGCGATGCAGCTCAACGCGGGCGTTTTTGAGTACAACGGGCGCAGCGGGTACCTGCTCAAGCCGGAGTTCATGCGGCGGCCGGACAAGTCCTTCGACCCCTTCACTGAGGTCATCGTGGATGGCATCGTGGCCAATGCCTTGCGGGTCAAGGTGGGGCTTGCGGGCGGCTCAGGCCAGGGGTGTCCTGGGGGCAGGACTCTCAGCATCCGCCTCACCCTCCTTGGCCCACCCCCAGGTGATCTCAGGGCAGTTCCTGTCCGACAGGAAGGTGGGCATCTACGTGGAGGTGGACATGTTTGGCCTCCCTGTTGATACGCGGCGCAAGTACCGCACCCGGACCTCTCAGGGGAACTCGTTCAACCCCGTGTGGGACGAAGAGCCCTTCGACTTCCCCAAGGTGAGCCTGGCCCCTGCACCCGCCCAGGCACAGGCAGATCCAGCCCAGACCGCCCCGACTCTCAGGTGGGAGAACAGGAACCAGGCACACCGTTGGCGACTGGGGATCAGAAAGTGGGGGGTGCCATGGGTCCCCCAGGACCTGCCTGTCCGAGCGTCAGTCTCCCTGCCCTCCTTAGGGTAAGAGACCAGGGTGAGAAGGTGAGATGGGGGTTGGGGGGTGTCAGCTAGACGTCTTGTGTCCCCTGCGAGGAGTGGACACAGCCTACCCTGTCTCCGAGGCAGGAGCTGAGGTCACAACCCCAAGCTCATATCCGCTCTTCAGCACCCCGCACGGCCCTGCATGGACGCGGCCTCTGCTCCCAGCCTGGGCATGTGTGTTCTTGGTTTCCTGCTCATGACTCACTCCCGTTTCTAAACTGGCAATGACCAGAACTGTCTGTGGGGGCCCTGGAGGGGCCTGGCTGCCTGTCATCTTGCCTCAGGGTCCTGATGGCTGCAGTCATCCATTAGGCCAGGACATGGAAGTGGGGTCAGCCATCAGCTTAGTGGCAATGGTGACTGATGGTCAGTAGGTCAGCTCGTCTGAAGGTCTGCTTTGTTAAGCTTTGATGGCTGTGGTTAGCTGTGGCCTGGTAGCCACAGTGGCCCAGGGTCAGCCCTGTGGCTCAGCTCCAGTCTGGCCCACAGGTGGTGCTGCCCACGCTGGCTTCACTTCGCATTGCAGCCTTTGAGGAGGGGGGTAAATTCGTAGGGCACCGGATCCTGCCTGTCTCTGCCATCCGCTCCGGTGAGGCCTTGGTGGGCTCTGGGCAGCACAGCGGGCAGTGGGTAGGGCCCCCACCTGGCCCAGCAACCCAACGTTGCCTTCCTGACCACCCAGGATACCACTACGTCTGCCTGCGGAACGAGGCCAACCAACCGCTGTGCCTGCCGGCCCTGCTCATCTACACCGAAGCCTCGGACTACATTCCTGACGACCACCAGGGTGAGCTGGGGGTGGGCGGGGCCTGCCTGGCCAGGGAGTGTGAGGGACAAGGGCCACCCCCAGGGCCTGGGAGTGGCCGAGCTGGATGGCCCCGACTGAGTAGGGAACTGAGTAGGGAACAGATCTGAGGACAAGCTCTGGAATTCCTCATTGAGACCAGAGGTGGCGGGTGGGGGTGGCCTGGGGGCTCTGTCTCTGAGACCTTGGCCTTCTGCCTCCCCCCAGACTATGCGGAGGCCCTGATCAACCCCATTAAGCACGTCAGCCTGATGGACCAGAGGGCCCGGCAGCTGGCCGCCCTCATTGGGGAGAGTGAGGTGAGCCGGGGCAGGGCAGGGCTCAGGCTCACTGTGACCCAGGGGGCCGCTGGACATGACTGCTGTGGCCACATGAGGAGGGGGCTTCTGGTCTCTCTAGCGCAGTAGGCTTGGCAGCCCTGGGATTTTGAGGAGATGAAAACCACCCATTTGCATTCAGGAGGCCTTCAGGTCACACCTGGGCTGGAATTCCTCCAGCTCCATGTAGGCTTGGAGTGGGGGTACAGGGGTCTCAGCCACTTCATCAGGGCAGTGCGAAGCCACAGAAGCTGTTCAGACGTGGTGTCCTGGGAGTCATGAGGAGGGCAGTGGCTTCCGTGGGGAGGGGTCAGGCACGGAGGTTCACCTGCGCTTCCAGATCCAGTCCCCCCAGGGCCTGCGGCAGGCGGGCGGGGAGAGATGACTGCAATTAGGGCTGCCTGGAGCTGTTAGCGGAGAGGCTGGTGCCCACTCTGCGGTTGAGTCCTCTGTTGATTTAATCAGGAGCTCAGCAGCAAGGAAAATGAGCGACTGTAGGCAAGGCTGGGGGACACAGGCAGGGGAGGAGAGGAGGCTTGGGGCTGGGCCAGGCCTTTCCAGAACAATCTGGGAGTTACTGAGCACATGCAGTGGGCTGGCATTATGTTATCTTCCCCACAGCCCATGTGGAAAAGGGGTTTAGAAAGGCTTGATTTATAGCTCTTCTCATGCAGACAGCCTCCTGTTACAGAGCAGTCCAGCAGTGGCTTGGACTAAGGGAGGCTGACAGGGGTGCTAGGGGACCCAGGAGGTGGTAGAGGACAGAAGGGTCTGGAGGGAACAGCATTTCTGAAAAGAGCATTCTCCTTTCTCCCTATAGGCTCAGGCTGGCCAAGAGACGTGCCAGGACACCCAGTCTCAGCAGCTGGGGTCTCAGCCGTCCTCAAACCCCACCCCCAGCCCACTGGATGCCTCCCCCCGCCGGCCCCCTGGCCCCACCACCTCCCCTGCCAGCACCTCCCTCAGCAGCCCAGGTAAGGAGTGGCCTGGGTCGGGGGTGGGCTGCAGGGAGGCACCCCCCACCCTGTCCTCCAGCTCCTCACAGGGCCTCTGCTCCCCAGGGCAGCGTGATGATCTCATCGCCAGCATCCTCTCAGGTAGGGGGCGGGGTACCTGGAGGCAGGGGGCTGCCTTGCAGGTTCCCCCACCCCCCGCCCACCTTTGCTCTGCCGCTCCCAGAGGTGGCCCCCACCCCGCTGGATGAGCTCCGAGGTCACAAGGCTCTGGTCAAGCTCCGGAGCCGGCAAGAGCGAGACCTGCGGGAGCTGCGCAAGAAGCATCAGCGGAAGGCAGTCACCCTCACCCGCCGCCTGCTGGATGGCCTGGCTCAGGCACAGGCTGAGGGCAGGTGCCGGCTGCGGCCAGGTGCCCTGTGAGTGTCTGGGCCGCCTGTGTGCTATGTGTGCTGGGTGTGCTGATGTGAACATGGGGGTCGGTGGGCATGGAGAGATGGCAAGAGCTGCTCCTTGACCCCCAGGGAGGAGGGTTCAGTGCAAGGATGGAGGAGGCTTTCCACACCAGGCGTCCCTGTGTCCCCCAGGGAGTGACATCTCTTTTGAAGTCCATGAGGAGCATGTTGCCCAAACAGGCTCCCATCACTTGGGTGGAGCTAACAGGCCTCCTGGTTTGCATAACAGACCTGGCCCCATGGGATGGTGTCTGCCATCGCTTGCCAGGATGTGCCCCCCTACACACCCTCCCCATCCCAGTCCATGTGACGGGCCCAGGCATCACCCAGAGGGGTTCTCCTCGCAGAGGTGGGGCCGCTGATGTGGAGGACACGAAGGAGGGGGAGGACGAGGCAAAGCGGTATCAGGAGTTCCAGAACAGACAGGTGCAGAGCCTGCTGGAGCTGCGGGAGGCCCAGGTGGACGCAGAGGCCCAGCGGAGGCTGGAACACCTGAGACAGGTAGGGGGCCTGCAGTGGCCAGGGAAAGCCTGCTGGATAGACCCGTCGTCAGCCCGGCATCACCTGTCAGCTCCCTGTGTCCACAGGCTCTGCAGCGGCT
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GCCAGCTTGTTGCGCTCAACTTCCAGACCCTCGGTGAGCCCTGGCCCCCTCCATCTTGACCCCGACCCTCAGTCTTACTGACTTCTGACCCACGATCCTGCTGGTCTTGCCTGAATGGACCTCTGACCCTGTCTCATCCCAGATCCCAGGGGAACCCAGCTCCCGACTCACCCCGCCTCCTGCCCTTGGCTGATACCAGACCCCTCCCCTGTCTGATCTGTCCTGGATCCGGACCCTGATGCCATTTGAGCCCGCCCCTGACCCTGGACCTTGGATGCCATCTGACCTGATGATCTCCCATTCCCCACATGGCACCGTCCTGCCTGATCCCTGCCCCTGCTCGACGTGCCCGTGGCACCCCAGATGTGGCGATGCAGCTCAACGCGGGCGTTTTTGAGTACAACGGGCGCAGCGGGTACCTGCTCAAGCCGGAGTTCATGCGGCGGCCGGACAAGTCCTTCGACCCCTTCACTGAGGTCATCGTGGATGGCATCGTGGCCAATGCCTTGCGGGTCAAGGTGGGGCTTGCGGGCGGCTCAGGCCAGGGGTGTCCTGGGGGCAGGACTCTCAGCATCCGCCTCACCCTCCTTGGCCCACCCCCAGGTGATCTCAGGGCAGTTCCTGTCCGACAGGAAGGTGGGCATCTACGTGGAGGTGGACATGTTTGGCCTCCCTGTTGATACGCGGCGCAAGTACCGCACCCGGACCTCTCAGGGGAACTCGTTCAACCCCGTGTGGGACGAAGAGCCCTTCGACTTCCCCAAGGTGAGCCTGGCCCCTGCACCCGCCCAGGCACAGGCAGATCCAGCCCAGACCGCCCCGACTCTCAGGTGGGAGAACAGGAACCAGGCACACCGTTGGCGACTGGGGATCAGAAAGTGGGGGGTGCCATGGGTCCCCCAGGACCTGCCTGTCCGAGCGTCAGTCTCCCTGCCCTCCTTAGGGTAAGAGACCAGGGTGAGAAGGTGAGATGGGGGTTGGGGGGTGTCAGCTAGACGTCTTGTGTCCCCTGCGAGGAGTGGACACAGCCTACCCTGTCTCCGAGGCAGGAGCTGAGGTCACAACCCCAAGCTCATATCCGCTCTTCAGCACCCCGCACGGCCCTGCATGGACGCGGCCTCTGCTCCCAGCCTGGGCATGTGTGTTCTTGGTTTCCTGCTCATGACTCACTCCCGTTTCTAAACTGGCAATGACCAGAACTGTCTGTGGGGGCCCTGGAGGGGCCTGGCTGCCTGTCATCTTGCCTCAGGGTCCTGATGGCTGCAGTCATCCATTAGGCCAGGACATGGAAGTGGGGTCAGCCATCAGCTTAGTGGCAATGGTGACTGATGGTCAGTAGGTCAGCTCGTCTGAAGGTCTGCTTTGTTAAGCTTTGATGGCTGTGGTTAGCTGTGGCCTGGTAGCCACAGTGGCCCAGGGTCAGCCCTGTGGCTCAGCTCCAGTCTGGCCCACAGGTGGTGCTGCCCACGCTGGCTTCACTTCGCATTGCAGCCTTTGAGGAGGGGGGTAAATTCGTAGGGCACCGGATCCTGCCTGTCTCTGCCATCCGCTCCGGTGAGGCCTTGGTGGGCTCTGGGCAGCACAGCGGGCAGTGGGTAGGGCCCCCACCTGGCCCAGCAACCCAACGTTGCCTTCCTGACCACCCAGGATACCACTACGTCTGCCTGCGGAACGAGGCCAACCAACCGCTGTGCCTGCCGGCCCTGCTCATCTACACCGAAGCCTCGGACTACATTCCTGACGACCACCAGGGTGAGCTGGGGGTGGGCGGGGCCTGCCTGGCCAGGGAGTGTGAGGGACAAGGGCCACCCCCAGGGCCTGGGAGTGGCCGAGCTGGATGGCCCCGACTGAGTAGGGAACTGAGTAGGGAACAGATCTGAGGACAAGCTCTGGAATTCCTCATTGAGACCAGAGGTGGCGGGTGGGGGTGGCCTGGGGGCTCTGTCTCTGAGACCTTGGCCTTCTGCCTCCCCCCAGACTATGCGGAGGCCCTGATCAACCCCATTAAGCACGTCAGCCTGATGGACCAGAGGGCCCGGCAGCTGGCCTCCCTCATTGGGGAGAGTGAGGTGAGCCGGGGCAGGGCAGGGCTCAGGCTCACTGTGACCCAGGGGGCCGCTGGACATGACTGCTGTGGCCACATGAGGAGGGGGCTTCTGGTCTCTCTAGCGCAGTAGGCTTGGCAGCCCTGGGATTTTGAGGAGATGAAAACCACCCATTTGCATTCAGGAGGCCTTCAGGTCACACCTGGGCTGGAATTCCTCCAGCTCCATGTAGGCTTGGAGTGGGGGTACAGGGGTCTCAGCCACTTCATCAGGGCAGTGCGAAGCCACAGAAGCTGTTCAGACGTGGTGTCCTGGGAGTCATGAGGAGGGCAGTGGCTTCCGTGGGGAGGGGTCAGGCACGGAGGTTCACCTGCGCTTCCAGATCCAGTCCCCCCAGGGCCTGCGGCAGGCGGGCGGGGAGAGATGACTGCAATTAGGGCTGCCTGGAGCTGTTAGCGGAGAGGCTGGTGCCCACTCTGCGGTTGAGTCCTCTGTTGATTTAATCAGGAGCTCAGCAGCAAGGAAAATGAGCGACTGTAGGCAAGGCTGGGGGACACAGGCAGGGGAGGAGAGGAGGCTTGGGGCTGGGCCAGGCCTTTCCAGAACAATCTGGGAGTTACTGAGCACATGCAGTGGGCTGGCATTATGTTATCTTCCCCACAGCCCATGTGGAAAAGGGGTTTAGAAAGGCTTGATTTATAGCTCTTCTCATGCAGACAGCCTCCTGTTACAGAGCAGTCCAGCAGTGGCTTGGACTAAGGGAGGCTGACAGGGGTGCTAGGGGACCCAGGAGGTGGTAGAGGACAGAAGGGTCTGGAGGGAACAGCATTTCTGAAAAGAGCATTCTCCTTTCTCCCTATAGGCTCAGGCTGGCCAAGAGACGTGCCAGGACACCCAGTCTCAGCAGCTGGGGTCTCAGCCGTCCTCAAACCCCACCCCCAGCCCACTGGATGCCTCCCCCCGCCGGCCCCCTGGCCCCACCACCTCCCCTGCCAGCACCTCCCTCAGCAGCCCAGGTAAGGAGTGGCCTGGGTCGGGGGTGGGCTGCAGGGAGGCACCCCCCACCCTGTCCTCCAGCTCCTCACAGGGCCTCTGCTCCCCAGGGCAGCGTGATGATCTCATCGCCAGCATCCTCTCAGGTAGGGGGCGGGGTACCTGGAGGCAGGGGGCTGCCTTGCAGGTTCCCCCACCCCCCGCCCACCTTTGCTCTGCCGCTCCCAGAGGTGGCCCCCACCCCGCTGGATGAGCTCCGAGGTCACAAGGCTCTGGTCAAGCTCCGGAGCCGGCAAGAGCGAGACCTGCGGGAGCTGCGCAAGAAGCATCAGCGGAAGGCAGTCACCCTCACCCGCCGCCTGCTGGATGGCCTGGCTCAGGCACAGGCTGAGGGCAGGTGCCGGCTGCGGCCAGGTGCCCTGTGAGTGTCTGGGCCGCCTGTGTGCTATGTGTGCTGGGTGTGCTGATGTGAACATGGGGGTCGGTGGGCATGGAGAGATGGCAAGAGCTGCTCCTTGACCCCCAGGGAGGAGGGTTCAGTGCAAGGATGGAGGAGGCTTTCCACACCAGGCGTCCCTGTGTCCCCCAGGGAGTGACATCTCTTTTGAAGTCCATGAGGAGCATGTTGCCCAAACAGGCTCCCATCACTTGGGTGGAGCTAACAGGCCTCCTGGTTTGCATAACAGACCTGGCCCCATGGGATGGTGTCTGCCATCGCTTGCCAGGATGTGCCCCCCTACACACCCTCCCCATCCCAGTCCATGTGACGGGCCCAGGCATCACCCAGAGGGGTTCTCCTCGCAGAGGTGGGGCCGCTGATGTGGAGGACACGAAGGAGGGGGAGGACGAGGCAAAGCGGTATCAGGAGTTCCAGAACAGACAGGTGCAGAGCCTGCTGGAGCTGCGGGAGGCCCAGGTGGACGCAGAGGCCCAGCGGAGGCTGGAACACCTGAGACAGGTAGGGGGCCTGCAGTGGCCAGGGAAAGCCTGCTGGATAGACCCGTCGTCAGCCCGGCATCACCTGTCAGCTCCCTGTGTCCACAGGCTCTGCAGCGGCT
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Task1_train_15999
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This variant affects the gene KCNK4, KCNK4-TEX40 (potassium two pore domain channel subfamily K member 4| KCNK4-CATSPERZ readthrough (NMD candidate)) found on Chromosome 11. What is the clinical effect of this variant — benign or pathogenic? State the disease if applicable.
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Pathogenic; not provided
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ATGGTCAGACAGATCACTGTAGGATTCAGTGGAAAGGAAGTTTCCCTCTTTCTGTTAAGCACCAATTGTGCTAGACCTTGAGCTAGGGGCTGGGGACAAGGATGGAGATGTCAGGGGCCTGAGGGATGACCTGGTGATTGAAATACACCAGGCGAGAGGGGTAGAGAGTAGAGACGAGGGGCAAGAGATGCCCATGTGGAGAGACAGCATGGGCAAAGGCGTGGAAGCTGGAAAGTTCCGGAGCATTTTGCAGAACCTGGAGTTAGCAGATGCCTAGTCATTTGAAGCAAAAATTAGAACACACAGGATGACAAAGGATTTTTCCCTTAAGTCGTGAATTTATTGGAAAAGTGTTGCAAAATACACATTAAATCACTTTTAATTAGCTATTTCGCTTCTTGCTTTTATTAACAGTTATTACAGGAAATGGAATCATCTCAGAAAATCTGGGGGGAAGGTTGCTGTAACATGGGGTGCCAAATTGGAGTCCCAGGGAGAAGACTAGGGGAAGGGGGGTGGGGACCAGTTTGAAAAAAGGAATGCTGGTCTGGGGTGTTTAGGCCTGCAAGGAGTGGGGAGCCATGGAGGGTGTTGAGCAGCCACTTTAGGAAGATTAGTTTGGACTAAGTCTTGCTAATGAGGACTTCAGTCAGGGGGCGAAGAGGTGCTTTATGATACGCCCCACAGACACCATTCTGGTACCTTGACACTGCTGCTTGGGGAAGAGTCTCTCTGACTTCCTCTCACCTAGGGCAAGCACTCTCAAAATAGTCCCTGCCCATGGGACCTGCATGCTGGCGAGAGGGGGAGACACCCAAATAGGGACATTACATTCATTTAATAATATGTATTGGCTGGTCCGAATACAGTAGTGTTTACAACTAATTGATCACAACCAGTTACAGATTTCTTGGTCCCTTCTCCACTCCCACTGCTTCACTTGACTAGCCTTAAAATAATAATAATACTTATTGAGAGGTGCTCAATCAATATGATTTACACTGCAGCACAGGGTTTGGCTTGGGCTTCCTCAGGGGTGGGATGTGTGTGTTTTTGTGTGTGCATATAAACCTCCTAAAAATTGGGAGCAAAATTTTGTGGCATATAAACCTTCCTGGAGAGAAAGTCCCTAGCTTTCTTGAGATTTTCTAAGGAAAGGGACTCAAATTCAGCTTCCATAGGTGCAATGGGAGTGGTGGGGTTGGAAAGCTGGAAACACAGGGTGTGGTCACTGCTTGGGAACTTACTCAACAGTCAGTGCTTACTTTGTTGCACGTTCACAAAAAATCTGGGAGGCAGATGCTGTCACTATCCTTCCCACTTGAGACATGCAGAAGCTGAGGCCAGAGAGTTCACTTGCTCAAGTCCCATAGCACCAACATTTGAACCCAGGCAGTCTGGTCCCAGGGTCTGTGCTCCTGACCATGGTAAAAGTGGAAATTTGTTGTCTGAAGTTAGGGGCCAGATACTGAAAATGTTTCTCAAACATTGTAGAAGTCAAACAAACTCACCTGCAGGTAGACTGGACCCAGTTTGTATCTTCTGCTGTAAGGGACTGCCTCCTGGGAGACCAAAGGGAAGGGGAGAACAGGGAGGAGCAGGGAAGGAGCCACCCTAGAGACTGGAGGGGCCACGAGTTGCCCTAGACAGGAGGGAAGAACTGAAGCTCCTCCTTCTGCACCTTGTCCTGCAGGAGGTGGCTGATGCCCTGGGAGGGGGTGCGGACCCAGAAACCAACTCGACCAGCAACAGCAGCCACTCAGCCTGGGACCTGGGCAGCGCCTTCTTTTTCTCAGGGACCATCATCACCACCATCGGTGGGGGAGGGGATTGGCATGTGGGGGGCGGCAAGGAGCTTCCTCATGGGGGAAGGTGCAGGGAGACGGAGGGGTCCCAGGTGGCCCCTAGACTTCCTGCATCGCCCCTCTGCCCAGGCTATGGCAATGTGGCCCTGCGCACAGATGCCGGGCGCCTCTTCTGCATCTTTTATGCGCTGGTGGGGATTCCGCTGTTTGGGATCCTACTGGCAGGGGTCGGGGACCGGCTGGGCTCCTCCCTGCGCCATGGCATCGGTCACATTGAAGCCATCTTCTTGGTGAGCTGCTCCATGCCCTGCCTGCCCTTGTGCTGGGCTCCGGCTACCCTTCCCCATGTCCCTGGCACATGAGCGCGCCCCCAAAGACCATAAGCCTCTCCCACAGGCTCCTGGGGGCGGGAGTGGGGAGTATGGGAGTGGGGATTGTTGGTGTCTCCTGGGTCCTGCCTACTGCCCCATCCCGCAGAAGTGGCACGTGCCACCGGAGCTAGTAAGAGTGCTGTCGGCGATGCTTTTCCTGCTGATCGGCTGCCTGCTCTTTGTCCTCACGCCCACGTTCGTGTTCTGCTATATGGAGGACTGGAGCAAGCTGGAGGCCATCTACTTTGTCATAGTGACGCTTACCACCGTGGGCTTTGGCGACTATGTGGCCGGTGAGGCCGCCCTTCTTGTGCTGCACTTTCCCATCTACTTTATTCCTGATCAGGGGCTCTGCACTCCTGCCTTTCCCTCCAGATCCCATGTGGTTGCTCTAACCCCTGCATCCATCATGGAATGCACCATCACAGCCTTGCACACACACCAGCGCCTTATGCACACTCACATTCTTATATGCTTGAGTCCCATGCATGCTCACACATATATTAAATGCACCCCTCGCATGTGTCACATTCTTGCACGGGAGCGCCCCTTCTTGCATGCTTTTATCTTGCACACTTTCAACTCATGCACACCACTCATTTTCCTGCCTGCACTCACACACTCAAGCACATACCCATTGCCCTAGGGAGGGCAGGTCCTCTCCAGGAACTGGGAGGGGGGCACTGAACCAGAGCTCACAGGCTTGCCCCACAATCCAATTCTTTCTACCTTCCCTGGTGGTATCCCAGGCGCGGACCCCAGGCAGGACTCCCCGGCCTATCAGCCGCTGGTGTGGTTCTGGATCCTGCTCGGCCTGGCTTACTTCGCCTCAGTGCTCACCACCATCGGGAACTGGCTGCGAGTAGTGTCCCGCCGCACTCGGGCAGAGGTAGGCGCCCCAGGGTTGGCACTGTGCCTGCGCACTGTGGTGCAAATGTGCTGTTCCCTAGCAGGGGGTTGATCAGGCTGTCTCCTATCCAGGGCGTGGGCTCCTGAGGCAGGGGCTGAGTGAGCCTCTGTGTGTGCCCCGCAGGGAACAGAGGGGTATAAGTTTGTGGGTACCTTCACCACCTCTTCCTTCATGGGTAGGATTGCCGGATTTAGCAAATAAAAATGCAGAAAGCCAGCACAGGCAACATGGTGAGATCCCGCCTCTAGAAAAGGCACAAAAATTAGCCCTGCGTGGTGGTGTGTGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGATGGGAGGATCGCTTGAGCCAGGGGAGGTCGAGGCAGCAGTGGGTCATGATTGCACCACTGCACTCCAGCCTGGGTGACAGAGTAAGCCCTGGTCTCAAACAAACAAACATTAACAACAACAACAAAAACAAAACTCAGTTAAATTTGAATTCCAAATAAATAAAATTTTATTATGGCGGGGGGCAGTGGCTCATGCTTGTAATCCGAGCATTTTGGGAGGCTGAGGCGGGTGGATCACGAGGTCAGGAGTTCGAGACCAGCCTGGCCAACACAGTGAAACCCCGTCTCTACTAAAAATACAAAAATTACCTGGACGTGGTGGCGGGCGCCTGTAATCCAAGCTACTTGGAGGGCTGAGGCAGGAGAATCGCTTGAACCGGGGAGGCAGAGGTTGCAGTGAGCTGAAATCACACCACTGCACCCCAGCCGGGATGACAGAGCTAGACTTGTCTCAAAAAAAGAAGAAAAAAAAAAAAAAAAAAAAAAAGCATGTCCCAAATATTGCACGAGATATATTTATACTAAAATTTTATTTGTTGTTTCTCTGAAATTCACATTTAGCCAGGCGATTTGTATTTTGCCACCCTGCTGGGAGCACCCAGTGGAGGAGCCCTTCCATCCTTGGGGCTGGCTGAGGCTGGAGGACCAGGCAGAAAAGAGGGTTGGGGTTTGATCCCTGCTGGTGAAGGGGCAG
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ATGGTCAGACAGATCACTGTAGGATTCAGTGGAAAGGAAGTTTCCCTCTTTCTGTTAAGCACCAATTGTGCTAGACCTTGAGCTAGGGGCTGGGGACAAGGATGGAGATGTCAGGGGCCTGAGGGATGACCTGGTGATTGAAATACACCAGGCGAGAGGGGTAGAGAGTAGAGACGAGGGGCAAGAGATGCCCATGTGGAGAGACAGCATGGGCAAAGGCGTGGAAGCTGGAAAGTTCCGGAGCATTTTGCAGAACCTGGAGTTAGCAGATGCCTAGTCATTTGAAGCAAAAATTAGAACACACAGGATGACAAAGGATTTTTCCCTTAAGTCGTGAATTTATTGGAAAAGTGTTGCAAAATACACATTAAATCACTTTTAATTAGCTATTTCGCTTCTTGCTTTTATTAACAGTTATTACAGGAAATGGAATCATCTCAGAAAATCTGGGGGGAAGGTTGCTGTAACATGGGGTGCCAAATTGGAGTCCCAGGGAGAAGACTAGGGGAAGGGGGGTGGGGACCAGTTTGAAAAAAGGAATGCTGGTCTGGGGTGTTTAGGCCTGCAAGGAGTGGGGAGCCATGGAGGGTGTTGAGCAGCCACTTTAGGAAGATTAGTTTGGACTAAGTCTTGCTAATGAGGACTTCAGTCAGGGGGCGAAGAGGTGCTTTATGATACGCCCCACAGACACCATTCTGGTACCTTGACACTGCTGCTTGGGGAAGAGTCTCTCTGACTTCCTCTCACCTAGGGCAAGCACTCTCAAAATAGTCCCTGCCCATGGGACCTGCATGCTGGCGAGAGGGGGAGACACCCAAATAGGGACATTACATTCATTTAATAATATGTATTGGCTGGTCCGAATACAGTAGTGTTTACAACTAATTGATCACAACCAGTTACAGATTTCTTGGTCCCTTCTCCACTCCCACTGCTTCACTTGACTAGCCTTAAAATAATAATAATACTTATTGAGAGGTGCTCAATCAATATGATTTACACTGCAGCACAGGGTTTGGCTTGGGCTTCCTCAGGGGTGGGATGTGTGTGTTTTTGTGTGTGCATATAAACCTCCTAAAAATTGGGAGCAAAATTTTGTGGCATATAAACCTTCCTGGAGAGAAAGTCCCTAGCTTTCTTGAGATTTTCTAAGGAAAGGGACTCAAATTCAGCTTCCATAGGTGCAATGGGAGTGGTGGGGTTGGAAAGCTGGAAACACAGGGTGTGGTCACTGCTTGGGAACTTACTCAACAGTCAGTGCTTACTTTGTTGCACGTTCACAAAAAATCTGGGAGGCAGATGCTGTCACTATCCTTCCCACTTGAGACATGCAGAAGCTGAGGCCAGAGAGTTCACTTGCTCAAGTCCCATAGCACCAACATTTGAACCCAGGCAGTCTGGTCCCAGGGTCTGTGCTCCTGACCATGGTAAAAGTGGAAATTTGTTGTCTGAAGTTAGGGGCCAGATACTGAAAATGTTTCTCAAACATTGTAGAAGTCAAACAAACTCACCTGCAGGTAGACTGGACCCAGTTTGTATCTTCTGCTGTAAGGGACTGCCTCCTGGGAGACCAAAGGGAAGGGGAGAACAGGGAGGAGCAGGGAAGGAGCCACCCTAGAGACTGGAGGGGCCACGAGTTGCCCTAGACAGGAGGGAAGAACTGAAGCTCCTCCTTCTGCACCTTGTCCTGCAGGAGGTGGCTGATGCCCTGGGAGGGGGTGCGGACCCAGAAACCAACTCGACCAGCAACAGCAGCCACTCAGCCTGGGACCTGGGCAGCGCCTTCTTTTTCTCAGGGACCATCATCACCACCATCGGTGGGGGAGGGGATTGGCATGTGGGGGGCGGCAAGGAGCTTCCTCATGGGGGAAGGTGCAGGGAGACGGAGGGGTCCCAGGTGGCCCCTAGACTTCCTGCATCGCCCCTCTGCCCAGGCTATGGCAATGTGGCCCTGCGCACAGATGCCGGGCGCCTCTTCTGCATCTTTTATGCGCTGGTGGGGATTCCGCTGTTTGGGATCCTACTGGCAGGGGTCGGGGACCGGCTGGACTCCTCCCTGCGCCATGGCATCGGTCACATTGAAGCCATCTTCTTGGTGAGCTGCTCCATGCCCTGCCTGCCCTTGTGCTGGGCTCCGGCTACCCTTCCCCATGTCCCTGGCACATGAGCGCGCCCCCAAAGACCATAAGCCTCTCCCACAGGCTCCTGGGGGCGGGAGTGGGGAGTATGGGAGTGGGGATTGTTGGTGTCTCCTGGGTCCTGCCTACTGCCCCATCCCGCAGAAGTGGCACGTGCCACCGGAGCTAGTAAGAGTGCTGTCGGCGATGCTTTTCCTGCTGATCGGCTGCCTGCTCTTTGTCCTCACGCCCACGTTCGTGTTCTGCTATATGGAGGACTGGAGCAAGCTGGAGGCCATCTACTTTGTCATAGTGACGCTTACCACCGTGGGCTTTGGCGACTATGTGGCCGGTGAGGCCGCCCTTCTTGTGCTGCACTTTCCCATCTACTTTATTCCTGATCAGGGGCTCTGCACTCCTGCCTTTCCCTCCAGATCCCATGTGGTTGCTCTAACCCCTGCATCCATCATGGAATGCACCATCACAGCCTTGCACACACACCAGCGCCTTATGCACACTCACATTCTTATATGCTTGAGTCCCATGCATGCTCACACATATATTAAATGCACCCCTCGCATGTGTCACATTCTTGCACGGGAGCGCCCCTTCTTGCATGCTTTTATCTTGCACACTTTCAACTCATGCACACCACTCATTTTCCTGCCTGCACTCACACACTCAAGCACATACCCATTGCCCTAGGGAGGGCAGGTCCTCTCCAGGAACTGGGAGGGGGGCACTGAACCAGAGCTCACAGGCTTGCCCCACAATCCAATTCTTTCTACCTTCCCTGGTGGTATCCCAGGCGCGGACCCCAGGCAGGACTCCCCGGCCTATCAGCCGCTGGTGTGGTTCTGGATCCTGCTCGGCCTGGCTTACTTCGCCTCAGTGCTCACCACCATCGGGAACTGGCTGCGAGTAGTGTCCCGCCGCACTCGGGCAGAGGTAGGCGCCCCAGGGTTGGCACTGTGCCTGCGCACTGTGGTGCAAATGTGCTGTTCCCTAGCAGGGGGTTGATCAGGCTGTCTCCTATCCAGGGCGTGGGCTCCTGAGGCAGGGGCTGAGTGAGCCTCTGTGTGTGCCCCGCAGGGAACAGAGGGGTATAAGTTTGTGGGTACCTTCACCACCTCTTCCTTCATGGGTAGGATTGCCGGATTTAGCAAATAAAAATGCAGAAAGCCAGCACAGGCAACATGGTGAGATCCCGCCTCTAGAAAAGGCACAAAAATTAGCCCTGCGTGGTGGTGTGTGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGATGGGAGGATCGCTTGAGCCAGGGGAGGTCGAGGCAGCAGTGGGTCATGATTGCACCACTGCACTCCAGCCTGGGTGACAGAGTAAGCCCTGGTCTCAAACAAACAAACATTAACAACAACAACAAAAACAAAACTCAGTTAAATTTGAATTCCAAATAAATAAAATTTTATTATGGCGGGGGGCAGTGGCTCATGCTTGTAATCCGAGCATTTTGGGAGGCTGAGGCGGGTGGATCACGAGGTCAGGAGTTCGAGACCAGCCTGGCCAACACAGTGAAACCCCGTCTCTACTAAAAATACAAAAATTACCTGGACGTGGTGGCGGGCGCCTGTAATCCAAGCTACTTGGAGGGCTGAGGCAGGAGAATCGCTTGAACCGGGGAGGCAGAGGTTGCAGTGAGCTGAAATCACACCACTGCACCCCAGCCGGGATGACAGAGCTAGACTTGTCTCAAAAAAAGAAGAAAAAAAAAAAAAAAAAAAAAAAGCATGTCCCAAATATTGCACGAGATATATTTATACTAAAATTTTATTTGTTGTTTCTCTGAAATTCACATTTAGCCAGGCGATTTGTATTTTGCCACCCTGCTGGGAGCACCCAGTGGAGGAGCCCTTCCATCCTTGGGGCTGGCTGAGGCTGGAGGACCAGGCAGAAAAGAGGGTTGGGGTTTGATCCCTGCTGGTGAAGGGGCAG
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Subsets and Splits
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