Datasets:
wanglab
/
variant_effect_coding

Dataset card Data Studio Files
xet
Community
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_27600
A change on Chromosome 20 affects gene SLC52A3 (solute carrier family 52 member 3). Identify whether the variant is neutral or disease-linked. Mention the disease if applicable.
Pathogenic; Brown-Vialetto-van Laere syndrome 1
GCCGGGCAGCAGGGGGCTGCTTTCTCCTCTAGATACCCCTGGCCCTGGCTGCTGTCCACCGTGCCTGCAGGGCCCAAGTCATTCTCTTCCCGCGGCCGGATGGAGTGGAGGGTGACCTGGTCATTGAGGAGGTCTTCCACGGAAGCCTCCCAGCACCTGGGTTGACGCTGGAGGACAAAGAACGCCACGAGGCAGCAGGCCATCATGATGGATAGGAGGAGGAAGAAGACCAGGGGTGAGAAGTGGGCGGGAAGGTAGCGGCTCTCCAGGTGGGACAAGGGTGCTTCCATTCCGGGGAGGGCGGACACCAAAGCTCTGGGAACTCCCTGCAAAGGACAAGACAGATCCCTGGTCAGGGGAGGGGATCAGGCTGCAGAACAACAATCATGACAGTGATAACAGAATACAGATCACCTGTTATTATTAATGGATAATGAATAAATAAACATAACTAACAAGGTGGCAATAATGACTGCTCATACTGACTGCCCACTGAGCACGGGCACTGTGCATGGATAAGCCCCTATGCCTCCTAACAGGGCTGCACAGTGGGCACCATCATCCCCCATTTTAGAGGGAACTGAGGTATCAGAATGCTTCGTCCCTTACCTGAGGGTCACAGGGAGAATGTGGCAAAGCCAGACTCCACCTGGTGCTTTCTGACTTGGAAGCTACACCTTTTATCACCCCACAGCAGTGGCAACCACAAACATGTTCAGAGGAGGAGCTAGCTGGAGACTGAGCAGTGGAGCCGCCCACCTAAGAGGAGAGCCCCCACCTAAGGGGAGAATCCCCCACCTAAGGGGAGAGCCCCCACCTAAGGGGAGAATCCCCCACCTAAGGGGAGAGCCCCCACCTAAGGAAGAACACTGCTCCACCCATCGTCTAGGAAATAAGGGCCTTCAGGACATGCCATCCCAAAATATGACTGTAGGAGGCCAGAATATGCCACCCCAAAATTGACCTATTGGCATATTTTTTATTTCTAGCTGGTTATTTTGAAAAATTGCAGGCTAAGGAGTAGCTCTGAAAAGTTGCCATTTTGTAAGATAAATTTACATCTAAAGGAAATTTTTATTAGTAAAGCTATCTTATCTGTACCAAGAAAAGGTATCTGTACCACGAAGGGGTATCTGAACCAGGAAGAGAAAGGTGATGGCCTTTATCACCCGAGGAACTTTTATCTGCATAACAGTGCAATGTTTATTCACCATAAGTTTCCTCCCTTCACTCTCCCATAATTTGTCTCCACCATCCTGCAGTAGCCTCAAGCCCCTATTCCCTTTTGTAGCTCAGGATGCTATAGAAGCTGAAATCATCTGGCCCTTTTTTGAGTCTCATATTTTTTGGGGACTCCCATGCGTATGTATGTAAGTAATTAAAATGAGTTTCCTGCTGTTGATCTGCCTTATGTCAGTTTAACTCATAGGCCGACCAAAGAACCTAGAAGGATGGAGGTGAGCAGTTTTTCCCTCCCCTACATTTGTGATAAAGCCAAGTGCTGAGATGGCTCCGGGTGATGCTGGGTACCTGTGCGATGTCAGTCTCCCTCGTGGGTACAGGGCTTGGTACGCTGTCTGATATCTCAGTGACATTGACGCAGGTAGTGAGACCGGAGCCCTGGGCAAGAGCCACCAGGGCGGGCAAGAGGCCGCTGAGTCCTTCACCCACAAAGAAGGTGGTGAGGTAGTAGGTGGGCAGCCGGCTCATGAACGGCAGGAAGGTCACTGAAGAGGTGCAGTCCACCAGGGCCAGGAAGAAGGTGAGGACCAAGAAGGCGATGCTGTGGTGGCCGTCCAGCACCCAGGAGGTCATATTCCAGAGGAAGGCAAAGATGATGCAGGTGACGGTTCCCACGCCCAGCAGGGTGAAGATGATGGGCACTTCGGAAAGGCAGCTGGGCCGGAAGTGATGGAGCAGGGTGACCAGGAGGGGCCCGATGTTGGCCAGCTGGATGACCACCGTGAGGTAGGAGGGCAGGTACCAGCCCTCGGGCAGCTCCATCACCAGCAGGGGCAGCTCTACCCAGAGCCCATTGATGGTCACCCAGGAGCCCATTCCGAAGACGCAGACCAGCAGGTGCATCAGGAAGGCCATGGCGGTATCTGCCCTGGGCCAGAGGCTTTCTCAGATCAGCCTGCAGCGGGGCTGGCAGAGAAGGACACCAGGTGAGTAATTCCAGCTTCACCACCTAGCAAGATGCTGGGACCTGGGGCCCAGAGTTTTCTCTTATTACTCCCCTTCCTGTGAACAAGCTGGCTTTTTTTTTTTTCCTTTGAGACATAGTTTCACTCTTTTAGTCCAGGCTGGAGTGCAATGGGATGATCTCGGCTCAGTGACCCTCTGCCTCCTGGGCTCAAGTGATTCTCCTGCCTCAGTTTCCCAAATAGCTGGGATTACAGGTGCATGCCACCATGCCAGCTAATTTTGTATTTTTAGTGGAAACAGGGTTTCCCCACGTTGGTCAGGCTGGTCTCGAACTCCTGGCCTCAGGTGATCCGCCTGCCTCGGCCTCCCAAAGTGCTGGGATTACAGTGTGAGCCACCACGCCTGGCCCAAGCTGTCTTTTTATTAGCAGAAAACAAGAGAAGCCTTTCCTAACCGTGATTCATGAAAGAAAAGTTCAATCCGACACACAAAAGCAAACAAAGCAGCTTCTGCAAAAGATACCAACAGCAAGGTCAAAAGTTAAATGAAAACACGGGGAAAACATTTGCCACATAAATCACAGACAAAGGGCTCATCTTCCTTGTCAGGCCTCTGAGCCCAAGCCTGCGCGTGTACATCCAGATGGCCTGAAGTAACTGAAGAATCACAAAAGAAGTGAAAATGGCCGGTTCCTGCCTTAACTGATGATATTACCTTGTGAAATTCCTTCTCCTGGCTCAGAAGCTCCCCTACTGAGCACCTTGTGACCCCCACCCCTGCCCGCCAGGGAACAACCCCCTTTGACTGTAATTTTCCACTACCTACCCAAATCCTATAAAACTGCCCCACCCCTATCTCCCTTCGCTGACTCTCTTTTCGGACTCAGCCCGCCTGCACCCAGGTGAAATAAACAGCCTTGTTGCTCACACAAAGCCTGTTTGATGGTCTCTTCACATGGACGCGCGTGACATTCCTAATATATAAAGAGTTTTTAAAAATCAAGAACAAAGAGACCCCATATAGAAGAGGGCCAAGGATATGAACAATTCAGAGAAAAAGGTACAAATAAGCTTTAAACACATGAAAATATTATCACCTTCATTCACAATAGGAAAACTACTCCAGGTGCCATTTCTCACCATGAGATTGTCCCAAAGCCTGACAAAATGACTCATGTTCAAGGTTATTATAGATTGCGATCTTGTTGGTAATAGCAAGTTATGGGAAATTTTCTCCTGGGTGGCTACCAACAGAGAGGGGGCTAATTAAAGGGACCTGCTGGAATACCACATACCTGTTTAAAGGAATAAGAAATAAGGAAAGCAGATCTTGGTGACTGATAAGGAAAGGTCTCCAGGCTATAATAATAATCTTGAAACAAAATCAAGGCAGGTAAATGGAACCAGGAAAAAGTGTACTGCCTTTTGGTCATAGAAGAGGAGGAAAAACATGTTTTCTTTGCTTGTACTTGCACAAAGCAACCCTTGAAGGACACACAGGGACTGCAGGGATGTTGGTGATGCCTCTGTATATCTTTTTTTTTTTTCTTGTGACAGAGTCTTACTCTGTCACCAGGCTGGAGTGAAGTGGCACAATCTCAGCTCACTGCAACCTCTACCTCCCGGGTTCAAGTGATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGACTACAGGCGCCCACCACTACGCCCAGCTAATTTTTTGTATTTTTATTAGAGATGGGGTTTCTCCGTGTTAGCCAGGATGGTCTCAATCTCCTGATCTTGTGATCCACCCTCCTCAGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCGCTCCTGGCCCTGCCTCTGTATATCTTTTAATAAGAGTTTTGATTTGTGAACCATGTAAACATATTACCTGATGCAAATATATGGTTACCTGAAATAAGATTTCAATCTGGCTTTTTTTCCTCCTGAAA
GCCGGGCAGCAGGGGGCTGCTTTCTCCTCTAGATACCCCTGGCCCTGGCTGCTGTCCACCGTGCCTGCAGGGCCCAAGTCATTCTCTTCCCGCGGCCGGATGGAGTGGAGGGTGACCTGGTCATTGAGGAGGTCTTCCACGGAAGCCTCCCAGCACCTGGGTTGACGCTGGAGGACAAAGAACGCCACGAGGCAGCAGGCCATCATGATGGATAGGAGGAGGAAGAAGACCAGGGGTGAGAAGTGGGCGGGAAGGTAGCGGCTCTCCAGGTGGGACAAGGGTGCTTCCATTCCGGGGAGGGCGGACACCAAAGCTCTGGGAACTCCCTGCAAAGGACAAGACAGATCCCTGGTCAGGGGAGGGGATCAGGCTGCAGAACAACAATCATGACAGTGATAACAGAATACAGATCACCTGTTATTATTAATGGATAATGAATAAATAAACATAACTAACAAGGTGGCAATAATGACTGCTCATACTGACTGCCCACTGAGCACGGGCACTGTGCATGGATAAGCCCCTATGCCTCCTAACAGGGCTGCACAGTGGGCACCATCATCCCCCATTTTAGAGGGAACTGAGGTATCAGAATGCTTCGTCCCTTACCTGAGGGTCACAGGGAGAATGTGGCAAAGCCAGACTCCACCTGGTGCTTTCTGACTTGGAAGCTACACCTTTTATCACCCCACAGCAGTGGCAACCACAAACATGTTCAGAGGAGGAGCTAGCTGGAGACTGAGCAGTGGAGCCGCCCACCTAAGAGGAGAGCCCCCACCTAAGGGGAGAATCCCCCACCTAAGGGGAGAGCCCCCACCTAAGGGGAGAATCCCCCACCTAAGGGGAGAGCCCCCACCTAAGGAAGAACACTGCTCCACCCATCGTCTAGGAAATAAGGGCCTTCAGGACATGCCATCCCAAAATATGACTGTAGGAGGCCAGAATATGCCACCCCAAAATTGACCTATTGGCATATTTTTTATTTCTAGCTGGTTATTTTGAAAAATTGCAGGCTAAGGAGTAGCTCTGAAAAGTTGCCATTTTGTAAGATAAATTTACATCTAAAGGAAATTTTTATTAGTAAAGCTATCTTATCTGTACCAAGAAAAGGTATCTGTACCACGAAGGGGTATCTGAACCAGGAAGAGAAAGGTGATGGCCTTTATCACCCGAGGAACTTTTATCTGCATAACAGTGCAATGTTTATTCACCATAAGTTTCCTCCCTTCACTCTCCCATAATTTGTCTCCACCATCCTGCAGTAGCCTCAAGCCCCTATTCCCTTTTGTAGCTCAGGATGCTATAGAAGCTGAAATCATCTGGCCCTTTTTTGAGTCTCATATTTTTTGGGGACTCCCATGCGTATGTATGTAAGTAATTAAAATGAGTTTCCTGCTGTTGATCTGCCTTATGTCAGTTTAACTCATAGGCCGACCAAAGAACCTAGAAGGATGGAGGTGAGCAGTTTTTCCCTCCCCTACATTTGTGATAAAGCCAAGTGCTGAGATGGCTCCGGGTGATGCTGGGTACCTGTGCGATGTCAGTCTCCCTCGTGGGTACAGGGCTTGGTACGCTGTCTGATATCTCAGTGACATTGACGCAGGTAGTGAGACCGGAGCCCTGGGCAAGAGCCACCAGGGCGGGCAAGAGGCCGCTGAGTCCTTCACCCACAAAGAAGGTGGTGAGGTAGTAGGTGGGCAGCCGGCTCATGAACGGCAGGAAGGTCACTGAAGAGGTGCAGTCCACCAGGGCCAGGAAGAAGGTGAGGACCAAGAAGGCGATGCTGTGGTGGCCGTCCAGCACCCAGGAGGTCATATTCCAGAGGAAGGCAAAGATGATGCAGGTGACGGTTCCCACGCCCAGCAGGGTGAAGATGATGGGCACTTCGGAAAGGCAGCTGGGCCGGAAGTGATGGAGCAGGGTGACCAGGAGGGGCCCGATGTTGGCCAGCTGGATGACCACCGTGAGGTAGGAGGGCAGGTACCAGCCCTCGGGCAGCTCCATCACCAGCAGGGGCAGCTCTACCCAGAGCCCATTGATGGTCACCCGGGAGCCCATTCCGAAGACGCAGACCAGCAGGTGCATCAGGAAGGCCATGGCGGTATCTGCCCTGGGCCAGAGGCTTTCTCAGATCAGCCTGCAGCGGGGCTGGCAGAGAAGGACACCAGGTGAGTAATTCCAGCTTCACCACCTAGCAAGATGCTGGGACCTGGGGCCCAGAGTTTTCTCTTATTACTCCCCTTCCTGTGAACAAGCTGGCTTTTTTTTTTTTCCTTTGAGACATAGTTTCACTCTTTTAGTCCAGGCTGGAGTGCAATGGGATGATCTCGGCTCAGTGACCCTCTGCCTCCTGGGCTCAAGTGATTCTCCTGCCTCAGTTTCCCAAATAGCTGGGATTACAGGTGCATGCCACCATGCCAGCTAATTTTGTATTTTTAGTGGAAACAGGGTTTCCCCACGTTGGTCAGGCTGGTCTCGAACTCCTGGCCTCAGGTGATCCGCCTGCCTCGGCCTCCCAAAGTGCTGGGATTACAGTGTGAGCCACCACGCCTGGCCCAAGCTGTCTTTTTATTAGCAGAAAACAAGAGAAGCCTTTCCTAACCGTGATTCATGAAAGAAAAGTTCAATCCGACACACAAAAGCAAACAAAGCAGCTTCTGCAAAAGATACCAACAGCAAGGTCAAAAGTTAAATGAAAACACGGGGAAAACATTTGCCACATAAATCACAGACAAAGGGCTCATCTTCCTTGTCAGGCCTCTGAGCCCAAGCCTGCGCGTGTACATCCAGATGGCCTGAAGTAACTGAAGAATCACAAAAGAAGTGAAAATGGCCGGTTCCTGCCTTAACTGATGATATTACCTTGTGAAATTCCTTCTCCTGGCTCAGAAGCTCCCCTACTGAGCACCTTGTGACCCCCACCCCTGCCCGCCAGGGAACAACCCCCTTTGACTGTAATTTTCCACTACCTACCCAAATCCTATAAAACTGCCCCACCCCTATCTCCCTTCGCTGACTCTCTTTTCGGACTCAGCCCGCCTGCACCCAGGTGAAATAAACAGCCTTGTTGCTCACACAAAGCCTGTTTGATGGTCTCTTCACATGGACGCGCGTGACATTCCTAATATATAAAGAGTTTTTAAAAATCAAGAACAAAGAGACCCCATATAGAAGAGGGCCAAGGATATGAACAATTCAGAGAAAAAGGTACAAATAAGCTTTAAACACATGAAAATATTATCACCTTCATTCACAATAGGAAAACTACTCCAGGTGCCATTTCTCACCATGAGATTGTCCCAAAGCCTGACAAAATGACTCATGTTCAAGGTTATTATAGATTGCGATCTTGTTGGTAATAGCAAGTTATGGGAAATTTTCTCCTGGGTGGCTACCAACAGAGAGGGGGCTAATTAAAGGGACCTGCTGGAATACCACATACCTGTTTAAAGGAATAAGAAATAAGGAAAGCAGATCTTGGTGACTGATAAGGAAAGGTCTCCAGGCTATAATAATAATCTTGAAACAAAATCAAGGCAGGTAAATGGAACCAGGAAAAAGTGTACTGCCTTTTGGTCATAGAAGAGGAGGAAAAACATGTTTTCTTTGCTTGTACTTGCACAAAGCAACCCTTGAAGGACACACAGGGACTGCAGGGATGTTGGTGATGCCTCTGTATATCTTTTTTTTTTTTCTTGTGACAGAGTCTTACTCTGTCACCAGGCTGGAGTGAAGTGGCACAATCTCAGCTCACTGCAACCTCTACCTCCCGGGTTCAAGTGATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGACTACAGGCGCCCACCACTACGCCCAGCTAATTTTTTGTATTTTTATTAGAGATGGGGTTTCTCCGTGTTAGCCAGGATGGTCTCAATCTCCTGATCTTGTGATCCACCCTCCTCAGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCGCTCCTGGCCCTGCCTCTGTATATCTTTTAATAAGAGTTTTGATTTGTGAACCATGTAAACATATTACCTGATGCAAATATATGGTTACCTGAAATAAGATTTCAATCTGGCTTTTTTTCCTCCTGAAA
Task1_train_27601
The gene RSPO4 (R-spondin 4) on Chromosome 20 contains a mutation. Based on this information, is the variant pathogenic or benign? Provide the disease if relevant.
Pathogenic; Anonychia
CCGTGGGAGCCCAGAAGCAGCATGGGTTGGGTTGTAGGGGAGGAAACCCCTGGACTGGGTCTTGAAGTGGGGGTGGGATGGCGGGGAAGGGGAGCCTAGCCAGGCTCAGGGAGGGACGGGAGGTGCTCCAAGTGAGGGCATAACCCCAGCAGAGTCCCCAGGATGATTTGGCCTGGAACTGGGCAAGCCGGAGAATAAGCTCAAACTGAGGAGGAAAAAAATGATGGGGGTGGAAAGGCTGGCAGATGGGACAGATTGCCCAGGGCCTGGGTGGGCTCCGCCCAAGGGCAGTGGGAGCCACTGAAGGGTCCTGGGAGGAAAAGAAATTGAGCAGACTATCATTGTGAAATACTCCCTCTGCTGTTGAGTGGAGACTGGGCTGGAGGGACTGAGAACCAAGGCGGGAGACGGGCAGGAGCTGTGGCCAGAACCCTGGCGATAGGCAGGGGGTGGCAAGAGGGTGGGAAGAGGGCGGCACAGAGGACAGAAACAAATGGGTGGGGAGAAAGGGATGAGCTGAATGGTGTGGGTTTGGGAGCTTCGTGCTGCTTCATTTTCACCCCAAAGTTCTTCCTACCACCCAAAATATTATGCATTTGTTCTCAGGTGTCGCTTCTGTCTCTCCACTGAAATGTCATGTCCTTGAGTGCAGAGGCTTTGTCTGTTTTGTTCTGTAATGTGTCTCCAGCACCTAGGAAAGTGCCTGGCCATAGCAGATGCTCTAGTAGATATTTTCAGAGTGAATAAATGAACAGATTGGATTGAATATAGGGTGAGGGAGAGAGAAGAGTCAACAGCGATGTCTGCATCTCGCGCATGCCACCCAGGGATCAGGGAGCTGGTTATTGAAACCCAGAGGAAACCCAGAGGGAGCGTTAGGTGGGGGATGGTGGCAGTGGGAGTGGAAAGAAGGCACCCAGAGGGCAGTGGAGGTGAGGATCAGCTGCTCAGGGAGGCTGGAGACACGGAGTCAGGGGCCATCAGCAGCTGGAATGACCATGAATGTGAGCCCGGAGGGAATGCGTGGGCAGAGAGGCACAGTGTAGATGAGAATGCCAAGGAGCAGCCTAGTGCAGGAACGGGAGGGCTCACAGGCAGGAGTGTGACAAGGAGCTGTTAGGAAATAATCAGAGCAGTAATAACACTGATACTGACACGTACTGAGCATCTACTGTGTGCTGGCTGCTGTACTGAGCACTTTAAATTGTACTAATTCACTTTATCCTCATAACAATTCCTCCCCATGAGGTAGGCTCTATGTTCTATTGTCTTTTTTTTTTTCTAACGTTTGGAGAAACCGAAGGACAGAGAGCTGAGGTGGTTTGCTTAAGATCACTAAAGGGTAAGGTTTAGAGCTAGGATTGGACCCCAGGCCTGTCCTATTCCAAAATCAGTGCTCAGCCAGGTGTGGTGGCTCATACCTATACTCCCAATGCTTTGGGAGGCTGAGGTGGGAAGACCGCTTGAGCCCAGGGGCAGCCTGGGCAACATAGCAAGAGCCTGTCTTTACAAAAACATAAACGCATAGCCAGCTGTTGTGGTACATGCCTGTGGTCCCAGTTACTCGGGAGGCTGAGGCGGGAGGATTCTCTGAGCCTAGGAGTTTGAGGCTGCAGTGAGCTATGATCATGCCACTGCACTCCAGCTGGGCAACAGAGTGAGACCCTATCTCAAACAAAACAAGCAAACAAGCAAACAAACAAACAAATAAACATCAGCGCTCTTCTTCTGCACTCTGCTGATTCCCTTGGCATTAATAACAATGCCAGTGTTGGTTGTAGTAGTAATCATAGTAATGGCGGTTATGTTGGCTCTAGTGTTTTGCAGTTACTATGTGGAGGTACCCAGTGTACCTGACATGGTGGTGCTGGGCCTTCCCTCACCATATGGCATTCTACTGTAATTTCTTCCAGGGCCCCTAACATCTCTCACCAAGCCCCCGCTCCAGGGAGAGGGGAGGGGCAGGGGCAGGGCGGGGAGGTCCCCACTCACCCTGGCACTCCCGTGTGTTCTGGTGGGCCAAAGTGCCCGGCGGGCAGGTGGGCAGACACTTCCCCTTGTACAAGTAAAACTGCCTCTTGCACCGGATGCAGAAGTCCTGGCTGAAGCAGCTCTCACAAGTGGCCCCACATTCTGTAATAGAGCCAGGGACACCCCAGGTGAGGGAGACTGCCAAGGATGGGGCCCACTGGGTCTGCCCGAGGTGGAAGGCCCTCTGGGTAGCTCCAGGCTTGGTAGCATTTGGGTCAGGACTCAGTGTCTCCTTTGAAGCCCAGACTTGGCCAAGGTCAAACTGGGCTGCATGTGAAGAGAACACTCCCTTTCTCATTTGAGGGGAGGCTCAGAGAGAGCGAGTGACTTGCTTGAAGTCACCCGCAAACCAGGGCTGGAGTGAGGACTCCCTGCTTCTTTTTCACCTCAGAAATAGTGATAATTTGCCCAAAGTTACAGCAAAAATTAGAGCTTGGAATTAGGACTCCTTTTCCTATTTGAGCTAAGACCAGAGAAGGTGAGTTACATGCCTAAGGCCACACCACAAACTAGGGTAGAAGTGAAAGTTGCCTGTTCTATTAGTGCTAATTAAGGCTGAGAGCGGACTGACTTGCCTCGGGCTGCGGAGTCAGCCTGGACACAGGCAGGTATCTCAGAGTCTGGGCTTAGACATGCACCTACTTCCCCTCTGTCTGTGCTGGGGTGAAAGGGTGGGATCTAAGCCCATGGTGTCTAGGAGCCCAGCACTAGCATAGAACAAGGGAGAAGCCACGTACTTTTGCACCTGTTGACCTCCTGGCCGCGGATGCCGAAGTACCCAGGGGGACAGTCGTGCAGGCACTTGCCGTACTGGCGGATGCCTTCCCGGCGGATGAACAGGAAGAGCCTCTGCTGGCAGGTGGAACAGCCGTTCTCCTCTGAGCAGATGATACAGCCTGTGCAGTTGCCCCCCAGGCCAGTGCCCACTGCCCACAAGACCAGGGCAGAAGGAGGGGGAAAGGGAGAGAGAGATGGTCAAACCATATATGCGAGCAGCTGAGATGGTCTCATTGGGATAGTAACTGGGCACATGGCCACCCAAACAAAAGACTACATTTCCCACCTTCCCTTACAACTAGATATGGTCATGTGACCAACATCTGGCCAATCAGATGTAAGGTAAAGCAGCATGTGACACTTCAAGAAAGCTGCCTTAAAGGGCAGGGGTGTGCCCCTTGTCGTCCCCTCATCCTTTCTGTTGGGTGGAATGTGAACGATGGCTGGAGCACAAGCAGCCATTTCAGATCATGAGGTGGAAACTATGTCCCGTGAGGCGGTGGAAAAATCAGATAAAAAGCACCTGGGTGCCTGAGGAAGGCAGAACTGCTGTACCAGCTCTAGCCTGCCTGTGTAGACTGTTACATGAGAGAGAAATCAACATCTATCTTGCTTAAATCACTGTTATTTGAAGTTTTCCATCACTCACAAGCAAACTTAATCTTTACCAAAGTAATGTGAATTTTTGAGTGTGTGTGGGTGCACATGATGAGTGGGGTGGGGTGAGACCCTCACCCTCCTGCTGGGTTCCTGAACAATACTCAGCAATACTCCATTTCTCACTGTCACCATCAGCAAGGGCTCCCACCATCATCAGGAATAGCAATGGGAGAAATTTTTTTAAGGAGAAAATTTTTTGTTACCCCAGAATTGGCACCCAGGAGCCAAAGCTGGGGAAAAAAGAGGTGGAAAATGCTCTAGAATCTTAAGTGAGCCTCTCCCAGGCTCATAAGGAGTCTCTGTTACCCTGACCATCACCCCAGGACCCTGATTAAGCTGAACACTTGCAGGGAGGGACTCATGGGAGTTAGGGATTGTCAGCCTGGCCAGGCACAGTGGCTCATGCCTGTCATCCCAGCATTTTGGGAGGCCAAGATGGGAGAATTGCTTGAGTCCAGGAGTTTGAGACCAGCCTGGACAATATGGCGAGGCCCTGTCTCTACAAAAAATACAAAAATTAGCCGGGTATGGTGGCACACACCTGTAGTCCCAGCTACTTGGGAGGCTAAGGTGGGAGGATCGCCTGAGCGGGGAAGGCTGCAGTGAGCTGTGTTTGTGCCACTGTACT
CCGTGGGAGCCCAGAAGCAGCATGGGTTGGGTTGTAGGGGAGGAAACCCCTGGACTGGGTCTTGAAGTGGGGGTGGGATGGCGGGGAAGGGGAGCCTAGCCAGGCTCAGGGAGGGACGGGAGGTGCTCCAAGTGAGGGCATAACCCCAGCAGAGTCCCCAGGATGATTTGGCCTGGAACTGGGCAAGCCGGAGAATAAGCTCAAACTGAGGAGGAAAAAAATGATGGGGGTGGAAAGGCTGGCAGATGGGACAGATTGCCCAGGGCCTGGGTGGGCTCCGCCCAAGGGCAGTGGGAGCCACTGAAGGGTCCTGGGAGGAAAAGAAATTGAGCAGACTATCATTGTGAAATACTCCCTCTGCTGTTGAGTGGAGACTGGGCTGGAGGGACTGAGAACCAAGGCGGGAGACGGGCAGGAGCTGTGGCCAGAACCCTGGCGATAGGCAGGGGGTGGCAAGAGGGTGGGAAGAGGGCGGCACAGAGGACAGAAACAAATGGGTGGGGAGAAAGGGATGAGCTGAATGGTGTGGGTTTGGGAGCTTCGTGCTGCTTCATTTTCACCCCAAAGTTCTTCCTACCACCCAAAATATTATGCATTTGTTCTCAGGTGTCGCTTCTGTCTCTCCACTGAAATGTCATGTCCTTGAGTGCAGAGGCTTTGTCTGTTTTGTTCTGTAATGTGTCTCCAGCACCTAGGAAAGTGCCTGGCCATAGCAGATGCTCTAGTAGATATTTTCAGAGTGAATAAATGAACAGATTGGATTGAATATAGGGTGAGGGAGAGAGAAGAGTCAACAGCGATGTCTGCATCTCGCGCATGCCACCCAGGGATCAGGGAGCTGGTTATTGAAACCCAGAGGAAACCCAGAGGGAGCGTTAGGTGGGGGATGGTGGCAGTGGGAGTGGAAAGAAGGCACCCAGAGGGCAGTGGAGGTGAGGATCAGCTGCTCAGGGAGGCTGGAGACACGGAGTCAGGGGCCATCAGCAGCTGGAATGACCATGAATGTGAGCCCGGAGGGAATGCGTGGGCAGAGAGGCACAGTGTAGATGAGAATGCCAAGGAGCAGCCTAGTGCAGGAACGGGAGGGCTCACAGGCAGGAGTGTGACAAGGAGCTGTTAGGAAATAATCAGAGCAGTAATAACACTGATACTGACACGTACTGAGCATCTACTGTGTGCTGGCTGCTGTACTGAGCACTTTAAATTGTACTAATTCACTTTATCCTCATAACAATTCCTCCCCATGAGGTAGGCTCTATGTTCTATTGTCTTTTTTTTTTTCTAACGTTTGGAGAAACCGAAGGACAGAGAGCTGAGGTGGTTTGCTTAAGATCACTAAAGGGTAAGGTTTAGAGCTAGGATTGGACCCCAGGCCTGTCCTATTCCAAAATCAGTGCTCAGCCAGGTGTGGTGGCTCATACCTATACTCCCAATGCTTTGGGAGGCTGAGGTGGGAAGACCGCTTGAGCCCAGGGGCAGCCTGGGCAACATAGCAAGAGCCTGTCTTTACAAAAACATAAACGCATAGCCAGCTGTTGTGGTACATGCCTGTGGTCCCAGTTACTCGGGAGGCTGAGGCGGGAGGATTCTCTGAGCCTAGGAGTTTGAGGCTGCAGTGAGCTATGATCATGCCACTGCACTCCAGCTGGGCAACAGAGTGAGACCCTATCTCAAACAAAACAAGCAAACAAGCAAACAAACAAACAAATAAACATCAGCGCTCTTCTTCTGCACTCTGCTGATTCCCTTGGCATTAATAACAATGCCAGTGTTGGTTGTAGTAGTAATCATAGTAATGGCGGTTATGTTGGCTCTAGTGTTTTGCAGTTACTATGTGGAGGTACCCAGTGTACCTGACATGGTGGTGCTGGGCCTTCCCTCACCATATGGCATTCTACTGTAATTTCTTCCAGGGCCCCTAACATCTCTCACCAAGCCCCCGCTCCAGGGAGAGGGGAGGGGCAGGGGCAGGGCGGGGAGGTCCCCACTCACCCTGGCACTCCCGTGTGTTCTGGTGGGCCAAAGTGCCCGGCGGGCAGGTGGGCAGATACTTCCCCTTGTACAAGTAAAACTGCCTCTTGCACCGGATGCAGAAGTCCTGGCTGAAGCAGCTCTCACAAGTGGCCCCACATTCTGTAATAGAGCCAGGGACACCCCAGGTGAGGGAGACTGCCAAGGATGGGGCCCACTGGGTCTGCCCGAGGTGGAAGGCCCTCTGGGTAGCTCCAGGCTTGGTAGCATTTGGGTCAGGACTCAGTGTCTCCTTTGAAGCCCAGACTTGGCCAAGGTCAAACTGGGCTGCATGTGAAGAGAACACTCCCTTTCTCATTTGAGGGGAGGCTCAGAGAGAGCGAGTGACTTGCTTGAAGTCACCCGCAAACCAGGGCTGGAGTGAGGACTCCCTGCTTCTTTTTCACCTCAGAAATAGTGATAATTTGCCCAAAGTTACAGCAAAAATTAGAGCTTGGAATTAGGACTCCTTTTCCTATTTGAGCTAAGACCAGAGAAGGTGAGTTACATGCCTAAGGCCACACCACAAACTAGGGTAGAAGTGAAAGTTGCCTGTTCTATTAGTGCTAATTAAGGCTGAGAGCGGACTGACTTGCCTCGGGCTGCGGAGTCAGCCTGGACACAGGCAGGTATCTCAGAGTCTGGGCTTAGACATGCACCTACTTCCCCTCTGTCTGTGCTGGGGTGAAAGGGTGGGATCTAAGCCCATGGTGTCTAGGAGCCCAGCACTAGCATAGAACAAGGGAGAAGCCACGTACTTTTGCACCTGTTGACCTCCTGGCCGCGGATGCCGAAGTACCCAGGGGGACAGTCGTGCAGGCACTTGCCGTACTGGCGGATGCCTTCCCGGCGGATGAACAGGAAGAGCCTCTGCTGGCAGGTGGAACAGCCGTTCTCCTCTGAGCAGATGATACAGCCTGTGCAGTTGCCCCCCAGGCCAGTGCCCACTGCCCACAAGACCAGGGCAGAAGGAGGGGGAAAGGGAGAGAGAGATGGTCAAACCATATATGCGAGCAGCTGAGATGGTCTCATTGGGATAGTAACTGGGCACATGGCCACCCAAACAAAAGACTACATTTCCCACCTTCCCTTACAACTAGATATGGTCATGTGACCAACATCTGGCCAATCAGATGTAAGGTAAAGCAGCATGTGACACTTCAAGAAAGCTGCCTTAAAGGGCAGGGGTGTGCCCCTTGTCGTCCCCTCATCCTTTCTGTTGGGTGGAATGTGAACGATGGCTGGAGCACAAGCAGCCATTTCAGATCATGAGGTGGAAACTATGTCCCGTGAGGCGGTGGAAAAATCAGATAAAAAGCACCTGGGTGCCTGAGGAAGGCAGAACTGCTGTACCAGCTCTAGCCTGCCTGTGTAGACTGTTACATGAGAGAGAAATCAACATCTATCTTGCTTAAATCACTGTTATTTGAAGTTTTCCATCACTCACAAGCAAACTTAATCTTTACCAAAGTAATGTGAATTTTTGAGTGTGTGTGGGTGCACATGATGAGTGGGGTGGGGTGAGACCCTCACCCTCCTGCTGGGTTCCTGAACAATACTCAGCAATACTCCATTTCTCACTGTCACCATCAGCAAGGGCTCCCACCATCATCAGGAATAGCAATGGGAGAAATTTTTTTAAGGAGAAAATTTTTTGTTACCCCAGAATTGGCACCCAGGAGCCAAAGCTGGGGAAAAAAGAGGTGGAAAATGCTCTAGAATCTTAAGTGAGCCTCTCCCAGGCTCATAAGGAGTCTCTGTTACCCTGACCATCACCCCAGGACCCTGATTAAGCTGAACACTTGCAGGGAGGGACTCATGGGAGTTAGGGATTGTCAGCCTGGCCAGGCACAGTGGCTCATGCCTGTCATCCCAGCATTTTGGGAGGCCAAGATGGGAGAATTGCTTGAGTCCAGGAGTTTGAGACCAGCCTGGACAATATGGCGAGGCCCTGTCTCTACAAAAAATACAAAAATTAGCCGGGTATGGTGGCACACACCTGTAGTCCCAGCTACTTGGGAGGCTAAGGTGGGAGGATCGCCTGAGCGGGGAAGGCTGCAGTGAGCTGTGTTTGTGCCACTGTACT
Task1_train_27602
This variant lies on Chromosome 20 and affects the gene RSPO4 (R-spondin 4). Based on this context, is the mutation pathogenic or benign? If pathogenic, what disease does it cause?
Pathogenic; Anonychia
TAGGGGAGGAAACCCCTGGACTGGGTCTTGAAGTGGGGGTGGGATGGCGGGGAAGGGGAGCCTAGCCAGGCTCAGGGAGGGACGGGAGGTGCTCCAAGTGAGGGCATAACCCCAGCAGAGTCCCCAGGATGATTTGGCCTGGAACTGGGCAAGCCGGAGAATAAGCTCAAACTGAGGAGGAAAAAAATGATGGGGGTGGAAAGGCTGGCAGATGGGACAGATTGCCCAGGGCCTGGGTGGGCTCCGCCCAAGGGCAGTGGGAGCCACTGAAGGGTCCTGGGAGGAAAAGAAATTGAGCAGACTATCATTGTGAAATACTCCCTCTGCTGTTGAGTGGAGACTGGGCTGGAGGGACTGAGAACCAAGGCGGGAGACGGGCAGGAGCTGTGGCCAGAACCCTGGCGATAGGCAGGGGGTGGCAAGAGGGTGGGAAGAGGGCGGCACAGAGGACAGAAACAAATGGGTGGGGAGAAAGGGATGAGCTGAATGGTGTGGGTTTGGGAGCTTCGTGCTGCTTCATTTTCACCCCAAAGTTCTTCCTACCACCCAAAATATTATGCATTTGTTCTCAGGTGTCGCTTCTGTCTCTCCACTGAAATGTCATGTCCTTGAGTGCAGAGGCTTTGTCTGTTTTGTTCTGTAATGTGTCTCCAGCACCTAGGAAAGTGCCTGGCCATAGCAGATGCTCTAGTAGATATTTTCAGAGTGAATAAATGAACAGATTGGATTGAATATAGGGTGAGGGAGAGAGAAGAGTCAACAGCGATGTCTGCATCTCGCGCATGCCACCCAGGGATCAGGGAGCTGGTTATTGAAACCCAGAGGAAACCCAGAGGGAGCGTTAGGTGGGGGATGGTGGCAGTGGGAGTGGAAAGAAGGCACCCAGAGGGCAGTGGAGGTGAGGATCAGCTGCTCAGGGAGGCTGGAGACACGGAGTCAGGGGCCATCAGCAGCTGGAATGACCATGAATGTGAGCCCGGAGGGAATGCGTGGGCAGAGAGGCACAGTGTAGATGAGAATGCCAAGGAGCAGCCTAGTGCAGGAACGGGAGGGCTCACAGGCAGGAGTGTGACAAGGAGCTGTTAGGAAATAATCAGAGCAGTAATAACACTGATACTGACACGTACTGAGCATCTACTGTGTGCTGGCTGCTGTACTGAGCACTTTAAATTGTACTAATTCACTTTATCCTCATAACAATTCCTCCCCATGAGGTAGGCTCTATGTTCTATTGTCTTTTTTTTTTTCTAACGTTTGGAGAAACCGAAGGACAGAGAGCTGAGGTGGTTTGCTTAAGATCACTAAAGGGTAAGGTTTAGAGCTAGGATTGGACCCCAGGCCTGTCCTATTCCAAAATCAGTGCTCAGCCAGGTGTGGTGGCTCATACCTATACTCCCAATGCTTTGGGAGGCTGAGGTGGGAAGACCGCTTGAGCCCAGGGGCAGCCTGGGCAACATAGCAAGAGCCTGTCTTTACAAAAACATAAACGCATAGCCAGCTGTTGTGGTACATGCCTGTGGTCCCAGTTACTCGGGAGGCTGAGGCGGGAGGATTCTCTGAGCCTAGGAGTTTGAGGCTGCAGTGAGCTATGATCATGCCACTGCACTCCAGCTGGGCAACAGAGTGAGACCCTATCTCAAACAAAACAAGCAAACAAGCAAACAAACAAACAAATAAACATCAGCGCTCTTCTTCTGCACTCTGCTGATTCCCTTGGCATTAATAACAATGCCAGTGTTGGTTGTAGTAGTAATCATAGTAATGGCGGTTATGTTGGCTCTAGTGTTTTGCAGTTACTATGTGGAGGTACCCAGTGTACCTGACATGGTGGTGCTGGGCCTTCCCTCACCATATGGCATTCTACTGTAATTTCTTCCAGGGCCCCTAACATCTCTCACCAAGCCCCCGCTCCAGGGAGAGGGGAGGGGCAGGGGCAGGGCGGGGAGGTCCCCACTCACCCTGGCACTCCCGTGTGTTCTGGTGGGCCAAAGTGCCCGGCGGGCAGGTGGGCAGACACTTCCCCTTGTACAAGTAAAACTGCCTCTTGCACCGGATGCAGAAGTCCTGGCTGAAGCAGCTCTCACAAGTGGCCCCACATTCTGTAATAGAGCCAGGGACACCCCAGGTGAGGGAGACTGCCAAGGATGGGGCCCACTGGGTCTGCCCGAGGTGGAAGGCCCTCTGGGTAGCTCCAGGCTTGGTAGCATTTGGGTCAGGACTCAGTGTCTCCTTTGAAGCCCAGACTTGGCCAAGGTCAAACTGGGCTGCATGTGAAGAGAACACTCCCTTTCTCATTTGAGGGGAGGCTCAGAGAGAGCGAGTGACTTGCTTGAAGTCACCCGCAAACCAGGGCTGGAGTGAGGACTCCCTGCTTCTTTTTCACCTCAGAAATAGTGATAATTTGCCCAAAGTTACAGCAAAAATTAGAGCTTGGAATTAGGACTCCTTTTCCTATTTGAGCTAAGACCAGAGAAGGTGAGTTACATGCCTAAGGCCACACCACAAACTAGGGTAGAAGTGAAAGTTGCCTGTTCTATTAGTGCTAATTAAGGCTGAGAGCGGACTGACTTGCCTCGGGCTGCGGAGTCAGCCTGGACACAGGCAGGTATCTCAGAGTCTGGGCTTAGACATGCACCTACTTCCCCTCTGTCTGTGCTGGGGTGAAAGGGTGGGATCTAAGCCCATGGTGTCTAGGAGCCCAGCACTAGCATAGAACAAGGGAGAAGCCACGTACTTTTGCACCTGTTGACCTCCTGGCCGCGGATGCCGAAGTACCCAGGGGGACAGTCGTGCAGGCACTTGCCGTACTGGCGGATGCCTTCCCGGCGGATGAACAGGAAGAGCCTCTGCTGGCAGGTGGAACAGCCGTTCTCCTCTGAGCAGATGATACAGCCTGTGCAGTTGCCCCCCAGGCCAGTGCCCACTGCCCACAAGACCAGGGCAGAAGGAGGGGGAAAGGGAGAGAGAGATGGTCAAACCATATATGCGAGCAGCTGAGATGGTCTCATTGGGATAGTAACTGGGCACATGGCCACCCAAACAAAAGACTACATTTCCCACCTTCCCTTACAACTAGATATGGTCATGTGACCAACATCTGGCCAATCAGATGTAAGGTAAAGCAGCATGTGACACTTCAAGAAAGCTGCCTTAAAGGGCAGGGGTGTGCCCCTTGTCGTCCCCTCATCCTTTCTGTTGGGTGGAATGTGAACGATGGCTGGAGCACAAGCAGCCATTTCAGATCATGAGGTGGAAACTATGTCCCGTGAGGCGGTGGAAAAATCAGATAAAAAGCACCTGGGTGCCTGAGGAAGGCAGAACTGCTGTACCAGCTCTAGCCTGCCTGTGTAGACTGTTACATGAGAGAGAAATCAACATCTATCTTGCTTAAATCACTGTTATTTGAAGTTTTCCATCACTCACAAGCAAACTTAATCTTTACCAAAGTAATGTGAATTTTTGAGTGTGTGTGGGTGCACATGATGAGTGGGGTGGGGTGAGACCCTCACCCTCCTGCTGGGTTCCTGAACAATACTCAGCAATACTCCATTTCTCACTGTCACCATCAGCAAGGGCTCCCACCATCATCAGGAATAGCAATGGGAGAAATTTTTTTAAGGAGAAAATTTTTTGTTACCCCAGAATTGGCACCCAGGAGCCAAAGCTGGGGAAAAAAGAGGTGGAAAATGCTCTAGAATCTTAAGTGAGCCTCTCCCAGGCTCATAAGGAGTCTCTGTTACCCTGACCATCACCCCAGGACCCTGATTAAGCTGAACACTTGCAGGGAGGGACTCATGGGAGTTAGGGATTGTCAGCCTGGCCAGGCACAGTGGCTCATGCCTGTCATCCCAGCATTTTGGGAGGCCAAGATGGGAGAATTGCTTGAGTCCAGGAGTTTGAGACCAGCCTGGACAATATGGCGAGGCCCTGTCTCTACAAAAAATACAAAAATTAGCCGGGTATGGTGGCACACACCTGTAGTCCCAGCTACTTGGGAGGCTAAGGTGGGAGGATCGCCTGAGCGGGGAAGGCTGCAGTGAGCTGTGTTTGTGCCACTGTACTCCAGTCGGAGAGACAGAGTGAAGCCATGTTTCCA
TAGGGGAGGAAACCCCTGGACTGGGTCTTGAAGTGGGGGTGGGATGGCGGGGAAGGGGAGCCTAGCCAGGCTCAGGGAGGGACGGGAGGTGCTCCAAGTGAGGGCATAACCCCAGCAGAGTCCCCAGGATGATTTGGCCTGGAACTGGGCAAGCCGGAGAATAAGCTCAAACTGAGGAGGAAAAAAATGATGGGGGTGGAAAGGCTGGCAGATGGGACAGATTGCCCAGGGCCTGGGTGGGCTCCGCCCAAGGGCAGTGGGAGCCACTGAAGGGTCCTGGGAGGAAAAGAAATTGAGCAGACTATCATTGTGAAATACTCCCTCTGCTGTTGAGTGGAGACTGGGCTGGAGGGACTGAGAACCAAGGCGGGAGACGGGCAGGAGCTGTGGCCAGAACCCTGGCGATAGGCAGGGGGTGGCAAGAGGGTGGGAAGAGGGCGGCACAGAGGACAGAAACAAATGGGTGGGGAGAAAGGGATGAGCTGAATGGTGTGGGTTTGGGAGCTTCGTGCTGCTTCATTTTCACCCCAAAGTTCTTCCTACCACCCAAAATATTATGCATTTGTTCTCAGGTGTCGCTTCTGTCTCTCCACTGAAATGTCATGTCCTTGAGTGCAGAGGCTTTGTCTGTTTTGTTCTGTAATGTGTCTCCAGCACCTAGGAAAGTGCCTGGCCATAGCAGATGCTCTAGTAGATATTTTCAGAGTGAATAAATGAACAGATTGGATTGAATATAGGGTGAGGGAGAGAGAAGAGTCAACAGCGATGTCTGCATCTCGCGCATGCCACCCAGGGATCAGGGAGCTGGTTATTGAAACCCAGAGGAAACCCAGAGGGAGCGTTAGGTGGGGGATGGTGGCAGTGGGAGTGGAAAGAAGGCACCCAGAGGGCAGTGGAGGTGAGGATCAGCTGCTCAGGGAGGCTGGAGACACGGAGTCAGGGGCCATCAGCAGCTGGAATGACCATGAATGTGAGCCCGGAGGGAATGCGTGGGCAGAGAGGCACAGTGTAGATGAGAATGCCAAGGAGCAGCCTAGTGCAGGAACGGGAGGGCTCACAGGCAGGAGTGTGACAAGGAGCTGTTAGGAAATAATCAGAGCAGTAATAACACTGATACTGACACGTACTGAGCATCTACTGTGTGCTGGCTGCTGTACTGAGCACTTTAAATTGTACTAATTCACTTTATCCTCATAACAATTCCTCCCCATGAGGTAGGCTCTATGTTCTATTGTCTTTTTTTTTTTCTAACGTTTGGAGAAACCGAAGGACAGAGAGCTGAGGTGGTTTGCTTAAGATCACTAAAGGGTAAGGTTTAGAGCTAGGATTGGACCCCAGGCCTGTCCTATTCCAAAATCAGTGCTCAGCCAGGTGTGGTGGCTCATACCTATACTCCCAATGCTTTGGGAGGCTGAGGTGGGAAGACCGCTTGAGCCCAGGGGCAGCCTGGGCAACATAGCAAGAGCCTGTCTTTACAAAAACATAAACGCATAGCCAGCTGTTGTGGTACATGCCTGTGGTCCCAGTTACTCGGGAGGCTGAGGCGGGAGGATTCTCTGAGCCTAGGAGTTTGAGGCTGCAGTGAGCTATGATCATGCCACTGCACTCCAGCTGGGCAACAGAGTGAGACCCTATCTCAAACAAAACAAGCAAACAAGCAAACAAACAAACAAATAAACATCAGCGCTCTTCTTCTGCACTCTGCTGATTCCCTTGGCATTAATAACAATGCCAGTGTTGGTTGTAGTAGTAATCATAGTAATGGCGGTTATGTTGGCTCTAGTGTTTTGCAGTTACTATGTGGAGGTACCCAGTGTACCTGACATGGTGGTGCTGGGCCTTCCCTCACCATATGGCATTCTACTGTAATTTCTTCCAGGGCCCCTAACATCTCTCACCAAGCCCCCGCTCCAGGGAGAGGGGAGGGGCAGGGGCAGGGCGGGGAGGTCCCCACTCACCCTGGCACTCCCGTGTGTTCTGGTGGGCCAAAGTGCCCGGCGGGCAGGTGGGCAGACACTTCCCCTTGTACAAGTAAAACTGCCTCTTGCGCCGGATGCAGAAGTCCTGGCTGAAGCAGCTCTCACAAGTGGCCCCACATTCTGTAATAGAGCCAGGGACACCCCAGGTGAGGGAGACTGCCAAGGATGGGGCCCACTGGGTCTGCCCGAGGTGGAAGGCCCTCTGGGTAGCTCCAGGCTTGGTAGCATTTGGGTCAGGACTCAGTGTCTCCTTTGAAGCCCAGACTTGGCCAAGGTCAAACTGGGCTGCATGTGAAGAGAACACTCCCTTTCTCATTTGAGGGGAGGCTCAGAGAGAGCGAGTGACTTGCTTGAAGTCACCCGCAAACCAGGGCTGGAGTGAGGACTCCCTGCTTCTTTTTCACCTCAGAAATAGTGATAATTTGCCCAAAGTTACAGCAAAAATTAGAGCTTGGAATTAGGACTCCTTTTCCTATTTGAGCTAAGACCAGAGAAGGTGAGTTACATGCCTAAGGCCACACCACAAACTAGGGTAGAAGTGAAAGTTGCCTGTTCTATTAGTGCTAATTAAGGCTGAGAGCGGACTGACTTGCCTCGGGCTGCGGAGTCAGCCTGGACACAGGCAGGTATCTCAGAGTCTGGGCTTAGACATGCACCTACTTCCCCTCTGTCTGTGCTGGGGTGAAAGGGTGGGATCTAAGCCCATGGTGTCTAGGAGCCCAGCACTAGCATAGAACAAGGGAGAAGCCACGTACTTTTGCACCTGTTGACCTCCTGGCCGCGGATGCCGAAGTACCCAGGGGGACAGTCGTGCAGGCACTTGCCGTACTGGCGGATGCCTTCCCGGCGGATGAACAGGAAGAGCCTCTGCTGGCAGGTGGAACAGCCGTTCTCCTCTGAGCAGATGATACAGCCTGTGCAGTTGCCCCCCAGGCCAGTGCCCACTGCCCACAAGACCAGGGCAGAAGGAGGGGGAAAGGGAGAGAGAGATGGTCAAACCATATATGCGAGCAGCTGAGATGGTCTCATTGGGATAGTAACTGGGCACATGGCCACCCAAACAAAAGACTACATTTCCCACCTTCCCTTACAACTAGATATGGTCATGTGACCAACATCTGGCCAATCAGATGTAAGGTAAAGCAGCATGTGACACTTCAAGAAAGCTGCCTTAAAGGGCAGGGGTGTGCCCCTTGTCGTCCCCTCATCCTTTCTGTTGGGTGGAATGTGAACGATGGCTGGAGCACAAGCAGCCATTTCAGATCATGAGGTGGAAACTATGTCCCGTGAGGCGGTGGAAAAATCAGATAAAAAGCACCTGGGTGCCTGAGGAAGGCAGAACTGCTGTACCAGCTCTAGCCTGCCTGTGTAGACTGTTACATGAGAGAGAAATCAACATCTATCTTGCTTAAATCACTGTTATTTGAAGTTTTCCATCACTCACAAGCAAACTTAATCTTTACCAAAGTAATGTGAATTTTTGAGTGTGTGTGGGTGCACATGATGAGTGGGGTGGGGTGAGACCCTCACCCTCCTGCTGGGTTCCTGAACAATACTCAGCAATACTCCATTTCTCACTGTCACCATCAGCAAGGGCTCCCACCATCATCAGGAATAGCAATGGGAGAAATTTTTTTAAGGAGAAAATTTTTTGTTACCCCAGAATTGGCACCCAGGAGCCAAAGCTGGGGAAAAAAGAGGTGGAAAATGCTCTAGAATCTTAAGTGAGCCTCTCCCAGGCTCATAAGGAGTCTCTGTTACCCTGACCATCACCCCAGGACCCTGATTAAGCTGAACACTTGCAGGGAGGGACTCATGGGAGTTAGGGATTGTCAGCCTGGCCAGGCACAGTGGCTCATGCCTGTCATCCCAGCATTTTGGGAGGCCAAGATGGGAGAATTGCTTGAGTCCAGGAGTTTGAGACCAGCCTGGACAATATGGCGAGGCCCTGTCTCTACAAAAAATACAAAAATTAGCCGGGTATGGTGGCACACACCTGTAGTCCCAGCTACTTGGGAGGCTAAGGTGGGAGGATCGCCTGAGCGGGGAAGGCTGCAGTGAGCTGTGTTTGTGCCACTGTACTCCAGTCGGAGAGACAGAGTGAAGCCATGTTTCCA
Task1_train_27603
This sequence change occurs on Chromosome 20, altering RSPO4 (R-spondin 4). What is the medical significance of this variant — is it benign or linked to a disease?
Pathogenic; Anonychia
GGGTGAGGGAGAGAGAAGAGTCAACAGCGATGTCTGCATCTCGCGCATGCCACCCAGGGATCAGGGAGCTGGTTATTGAAACCCAGAGGAAACCCAGAGGGAGCGTTAGGTGGGGGATGGTGGCAGTGGGAGTGGAAAGAAGGCACCCAGAGGGCAGTGGAGGTGAGGATCAGCTGCTCAGGGAGGCTGGAGACACGGAGTCAGGGGCCATCAGCAGCTGGAATGACCATGAATGTGAGCCCGGAGGGAATGCGTGGGCAGAGAGGCACAGTGTAGATGAGAATGCCAAGGAGCAGCCTAGTGCAGGAACGGGAGGGCTCACAGGCAGGAGTGTGACAAGGAGCTGTTAGGAAATAATCAGAGCAGTAATAACACTGATACTGACACGTACTGAGCATCTACTGTGTGCTGGCTGCTGTACTGAGCACTTTAAATTGTACTAATTCACTTTATCCTCATAACAATTCCTCCCCATGAGGTAGGCTCTATGTTCTATTGTCTTTTTTTTTTTCTAACGTTTGGAGAAACCGAAGGACAGAGAGCTGAGGTGGTTTGCTTAAGATCACTAAAGGGTAAGGTTTAGAGCTAGGATTGGACCCCAGGCCTGTCCTATTCCAAAATCAGTGCTCAGCCAGGTGTGGTGGCTCATACCTATACTCCCAATGCTTTGGGAGGCTGAGGTGGGAAGACCGCTTGAGCCCAGGGGCAGCCTGGGCAACATAGCAAGAGCCTGTCTTTACAAAAACATAAACGCATAGCCAGCTGTTGTGGTACATGCCTGTGGTCCCAGTTACTCGGGAGGCTGAGGCGGGAGGATTCTCTGAGCCTAGGAGTTTGAGGCTGCAGTGAGCTATGATCATGCCACTGCACTCCAGCTGGGCAACAGAGTGAGACCCTATCTCAAACAAAACAAGCAAACAAGCAAACAAACAAACAAATAAACATCAGCGCTCTTCTTCTGCACTCTGCTGATTCCCTTGGCATTAATAACAATGCCAGTGTTGGTTGTAGTAGTAATCATAGTAATGGCGGTTATGTTGGCTCTAGTGTTTTGCAGTTACTATGTGGAGGTACCCAGTGTACCTGACATGGTGGTGCTGGGCCTTCCCTCACCATATGGCATTCTACTGTAATTTCTTCCAGGGCCCCTAACATCTCTCACCAAGCCCCCGCTCCAGGGAGAGGGGAGGGGCAGGGGCAGGGCGGGGAGGTCCCCACTCACCCTGGCACTCCCGTGTGTTCTGGTGGGCCAAAGTGCCCGGCGGGCAGGTGGGCAGACACTTCCCCTTGTACAAGTAAAACTGCCTCTTGCACCGGATGCAGAAGTCCTGGCTGAAGCAGCTCTCACAAGTGGCCCCACATTCTGTAATAGAGCCAGGGACACCCCAGGTGAGGGAGACTGCCAAGGATGGGGCCCACTGGGTCTGCCCGAGGTGGAAGGCCCTCTGGGTAGCTCCAGGCTTGGTAGCATTTGGGTCAGGACTCAGTGTCTCCTTTGAAGCCCAGACTTGGCCAAGGTCAAACTGGGCTGCATGTGAAGAGAACACTCCCTTTCTCATTTGAGGGGAGGCTCAGAGAGAGCGAGTGACTTGCTTGAAGTCACCCGCAAACCAGGGCTGGAGTGAGGACTCCCTGCTTCTTTTTCACCTCAGAAATAGTGATAATTTGCCCAAAGTTACAGCAAAAATTAGAGCTTGGAATTAGGACTCCTTTTCCTATTTGAGCTAAGACCAGAGAAGGTGAGTTACATGCCTAAGGCCACACCACAAACTAGGGTAGAAGTGAAAGTTGCCTGTTCTATTAGTGCTAATTAAGGCTGAGAGCGGACTGACTTGCCTCGGGCTGCGGAGTCAGCCTGGACACAGGCAGGTATCTCAGAGTCTGGGCTTAGACATGCACCTACTTCCCCTCTGTCTGTGCTGGGGTGAAAGGGTGGGATCTAAGCCCATGGTGTCTAGGAGCCCAGCACTAGCATAGAACAAGGGAGAAGCCACGTACTTTTGCACCTGTTGACCTCCTGGCCGCGGATGCCGAAGTACCCAGGGGGACAGTCGTGCAGGCACTTGCCGTACTGGCGGATGCCTTCCCGGCGGATGAACAGGAAGAGCCTCTGCTGGCAGGTGGAACAGCCGTTCTCCTCTGAGCAGATGATACAGCCTGTGCAGTTGCCCCCCAGGCCAGTGCCCACTGCCCACAAGACCAGGGCAGAAGGAGGGGGAAAGGGAGAGAGAGATGGTCAAACCATATATGCGAGCAGCTGAGATGGTCTCATTGGGATAGTAACTGGGCACATGGCCACCCAAACAAAAGACTACATTTCCCACCTTCCCTTACAACTAGATATGGTCATGTGACCAACATCTGGCCAATCAGATGTAAGGTAAAGCAGCATGTGACACTTCAAGAAAGCTGCCTTAAAGGGCAGGGGTGTGCCCCTTGTCGTCCCCTCATCCTTTCTGTTGGGTGGAATGTGAACGATGGCTGGAGCACAAGCAGCCATTTCAGATCATGAGGTGGAAACTATGTCCCGTGAGGCGGTGGAAAAATCAGATAAAAAGCACCTGGGTGCCTGAGGAAGGCAGAACTGCTGTACCAGCTCTAGCCTGCCTGTGTAGACTGTTACATGAGAGAGAAATCAACATCTATCTTGCTTAAATCACTGTTATTTGAAGTTTTCCATCACTCACAAGCAAACTTAATCTTTACCAAAGTAATGTGAATTTTTGAGTGTGTGTGGGTGCACATGATGAGTGGGGTGGGGTGAGACCCTCACCCTCCTGCTGGGTTCCTGAACAATACTCAGCAATACTCCATTTCTCACTGTCACCATCAGCAAGGGCTCCCACCATCATCAGGAATAGCAATGGGAGAAATTTTTTTAAGGAGAAAATTTTTTGTTACCCCAGAATTGGCACCCAGGAGCCAAAGCTGGGGAAAAAAGAGGTGGAAAATGCTCTAGAATCTTAAGTGAGCCTCTCCCAGGCTCATAAGGAGTCTCTGTTACCCTGACCATCACCCCAGGACCCTGATTAAGCTGAACACTTGCAGGGAGGGACTCATGGGAGTTAGGGATTGTCAGCCTGGCCAGGCACAGTGGCTCATGCCTGTCATCCCAGCATTTTGGGAGGCCAAGATGGGAGAATTGCTTGAGTCCAGGAGTTTGAGACCAGCCTGGACAATATGGCGAGGCCCTGTCTCTACAAAAAATACAAAAATTAGCCGGGTATGGTGGCACACACCTGTAGTCCCAGCTACTTGGGAGGCTAAGGTGGGAGGATCGCCTGAGCGGGGAAGGCTGCAGTGAGCTGTGTTTGTGCCACTGTACTCCAGTCGGAGAGACAGAGTGAAGCCATGTTTCCAATAAAGAAGAAAATAAAAAGAAGTGGACAGCCTAGGGAAGTGAGTTGTGGTGCTGTGACTTTTCCTCTGTTCCCAACCCTGCCAACGAAGTGAGGAGATGCCAGAGAAACTCACAAAGACAGGGGGTGCCTGCAAGAAGGTGCCAGCATCTCATGCCCTGCTTGGACATAAACTCATGTCCATAGCCCTGCGAATCTGCCCCCTTCCCATTCCTCTTTGAACAGAGAAAGGAGACCAGGAGACAGAAGGGCAGAGCTGAGGGGAAGAGTGTGATAGAAGAGCCTGCACATCCTTCCCGGCACGTGTGAGGGAGTTCTCAGTGGTAAGGGGCACCTTGGGAGCAGCCAGGCTTAGGTGGTATTCCTGCTGCCTGGCACAAGAAGGCTGGTTGCTGGGAGGTGCCCCAGCAGTAAGAGGCAGCAGGGGAGACCACTGGGAGTAGGAGGTGGGGGAGAGTCAGAAAATGACCAGGTGTCACTAAGTGACAGGAAAGGATAGGGCAGCTTTTGAGAGGCAGCAATTGGGGAAACAGTAAATGGTTTCATGTTTATATGTCATTAGGGTCAGACTGGTTAATAATCCGGTTATACACCTTGATTCACCTGAGCCCCAAGACCACCCGGCAGGAAACATTCTTGGCTCTCCAGCTCTCAGATGCTCCCCTCTTCCTATTGGTGCCCCATCTCCCTTTTAGAGGAATTCCCCATTGTGCAAGGTCCTGATGAAACACATCCTG
GGGTGAGGGAGAGAGAAGAGTCAACAGCGATGTCTGCATCTCGCGCATGCCACCCAGGGATCAGGGAGCTGGTTATTGAAACCCAGAGGAAACCCAGAGGGAGCGTTAGGTGGGGGATGGTGGCAGTGGGAGTGGAAAGAAGGCACCCAGAGGGCAGTGGAGGTGAGGATCAGCTGCTCAGGGAGGCTGGAGACACGGAGTCAGGGGCCATCAGCAGCTGGAATGACCATGAATGTGAGCCCGGAGGGAATGCGTGGGCAGAGAGGCACAGTGTAGATGAGAATGCCAAGGAGCAGCCTAGTGCAGGAACGGGAGGGCTCACAGGCAGGAGTGTGACAAGGAGCTGTTAGGAAATAATCAGAGCAGTAATAACACTGATACTGACACGTACTGAGCATCTACTGTGTGCTGGCTGCTGTACTGAGCACTTTAAATTGTACTAATTCACTTTATCCTCATAACAATTCCTCCCCATGAGGTAGGCTCTATGTTCTATTGTCTTTTTTTTTTTCTAACGTTTGGAGAAACCGAAGGACAGAGAGCTGAGGTGGTTTGCTTAAGATCACTAAAGGGTAAGGTTTAGAGCTAGGATTGGACCCCAGGCCTGTCCTATTCCAAAATCAGTGCTCAGCCAGGTGTGGTGGCTCATACCTATACTCCCAATGCTTTGGGAGGCTGAGGTGGGAAGACCGCTTGAGCCCAGGGGCAGCCTGGGCAACATAGCAAGAGCCTGTCTTTACAAAAACATAAACGCATAGCCAGCTGTTGTGGTACATGCCTGTGGTCCCAGTTACTCGGGAGGCTGAGGCGGGAGGATTCTCTGAGCCTAGGAGTTTGAGGCTGCAGTGAGCTATGATCATGCCACTGCACTCCAGCTGGGCAACAGAGTGAGACCCTATCTCAAACAAAACAAGCAAACAAGCAAACAAACAAACAAATAAACATCAGCGCTCTTCTTCTGCACTCTGCTGATTCCCTTGGCATTAATAACAATGCCAGTGTTGGTTGTAGTAGTAATCATAGTAATGGCGGTTATGTTGGCTCTAGTGTTTTGCAGTTACTATGTGGAGGTACCCAGTGTACCTGACATGGTGGTGCTGGGCCTTCCCTCACCATATGGCATTCTACTGTAATTTCTTCCAGGGCCCCTAACATCTCTCACCAAGCCCCCGCTCCAGGGAGAGGGGAGGGGCAGGGGCAGGGCGGGGAGGTCCCCACTCACCCTGGCACTCCCGTGTGTTCTGGTGGGCCAAAGTGCCCGGCGGGCAGGTGGGCAGACACTTCCCCTTGTACAAGTAAAACTGCCTCTTGCACCGGATGCAGAAGTCCTGGCTGAAGCAGCTCTCACAAGTGGCCCCACATTCTGTAATAGAGCCAGGGACACCCCAGGTGAGGGAGACTGCCAAGGATGGGGCCCACTGGGTCTGCCCGAGGTGGAAGGCCCTCTGGGTAGCTCCAGGCTTGGTAGCATTTGGGTCAGGACTCAGTGTCTCCTTTGAAGCCCAGACTTGGCCAAGGTCAAACTGGGCTGCATGTGAAGAGAACACTCCCTTTCTCATTTGAGGGGAGGCTCAGAGAGAGCGAGTGACTTGCTTGAAGTCACCCGCAAACCAGGGCTGGAGTGAGGACTCCCTGCTTCTTTTTCACCTCAGAAATAGTGATAATTTGCCCAAAGTTACAGCAAAAATTAGAGCTTGGAATTAGGACTCCTTTTCCTATTTGAGCTAAGACCAGAGAAGGTGAGTTACATGCCTAAGGCCACACCACAAACTAGGGTAGAAGTGAAAGTTGCCTGTTCTATTAGTGCTAATTAAGGCTGAGAGCGGACTGACTTGCCTCGGGCTGCGGAGTCAGCCTGGACACAGGCAGGTATCTCAGAGTCTGGGCTTAGACATGCACCTACTTCCCCTCTGTCTGTGCTGGGGTGAAAGGGTGGGATCTAAGCCCATGGTGTCTAGGAGCCCAGCACTAGCATAGAACAAGGGAGAAGCCACGTACTTTTGCACCTGTTGACCTCCTGGCCGCGGATGCCGAAGTACCCAGGGGGATAGTCGTGCAGGCACTTGCCGTACTGGCGGATGCCTTCCCGGCGGATGAACAGGAAGAGCCTCTGCTGGCAGGTGGAACAGCCGTTCTCCTCTGAGCAGATGATACAGCCTGTGCAGTTGCCCCCCAGGCCAGTGCCCACTGCCCACAAGACCAGGGCAGAAGGAGGGGGAAAGGGAGAGAGAGATGGTCAAACCATATATGCGAGCAGCTGAGATGGTCTCATTGGGATAGTAACTGGGCACATGGCCACCCAAACAAAAGACTACATTTCCCACCTTCCCTTACAACTAGATATGGTCATGTGACCAACATCTGGCCAATCAGATGTAAGGTAAAGCAGCATGTGACACTTCAAGAAAGCTGCCTTAAAGGGCAGGGGTGTGCCCCTTGTCGTCCCCTCATCCTTTCTGTTGGGTGGAATGTGAACGATGGCTGGAGCACAAGCAGCCATTTCAGATCATGAGGTGGAAACTATGTCCCGTGAGGCGGTGGAAAAATCAGATAAAAAGCACCTGGGTGCCTGAGGAAGGCAGAACTGCTGTACCAGCTCTAGCCTGCCTGTGTAGACTGTTACATGAGAGAGAAATCAACATCTATCTTGCTTAAATCACTGTTATTTGAAGTTTTCCATCACTCACAAGCAAACTTAATCTTTACCAAAGTAATGTGAATTTTTGAGTGTGTGTGGGTGCACATGATGAGTGGGGTGGGGTGAGACCCTCACCCTCCTGCTGGGTTCCTGAACAATACTCAGCAATACTCCATTTCTCACTGTCACCATCAGCAAGGGCTCCCACCATCATCAGGAATAGCAATGGGAGAAATTTTTTTAAGGAGAAAATTTTTTGTTACCCCAGAATTGGCACCCAGGAGCCAAAGCTGGGGAAAAAAGAGGTGGAAAATGCTCTAGAATCTTAAGTGAGCCTCTCCCAGGCTCATAAGGAGTCTCTGTTACCCTGACCATCACCCCAGGACCCTGATTAAGCTGAACACTTGCAGGGAGGGACTCATGGGAGTTAGGGATTGTCAGCCTGGCCAGGCACAGTGGCTCATGCCTGTCATCCCAGCATTTTGGGAGGCCAAGATGGGAGAATTGCTTGAGTCCAGGAGTTTGAGACCAGCCTGGACAATATGGCGAGGCCCTGTCTCTACAAAAAATACAAAAATTAGCCGGGTATGGTGGCACACACCTGTAGTCCCAGCTACTTGGGAGGCTAAGGTGGGAGGATCGCCTGAGCGGGGAAGGCTGCAGTGAGCTGTGTTTGTGCCACTGTACTCCAGTCGGAGAGACAGAGTGAAGCCATGTTTCCAATAAAGAAGAAAATAAAAAGAAGTGGACAGCCTAGGGAAGTGAGTTGTGGTGCTGTGACTTTTCCTCTGTTCCCAACCCTGCCAACGAAGTGAGGAGATGCCAGAGAAACTCACAAAGACAGGGGGTGCCTGCAAGAAGGTGCCAGCATCTCATGCCCTGCTTGGACATAAACTCATGTCCATAGCCCTGCGAATCTGCCCCCTTCCCATTCCTCTTTGAACAGAGAAAGGAGACCAGGAGACAGAAGGGCAGAGCTGAGGGGAAGAGTGTGATAGAAGAGCCTGCACATCCTTCCCGGCACGTGTGAGGGAGTTCTCAGTGGTAAGGGGCACCTTGGGAGCAGCCAGGCTTAGGTGGTATTCCTGCTGCCTGGCACAAGAAGGCTGGTTGCTGGGAGGTGCCCCAGCAGTAAGAGGCAGCAGGGGAGACCACTGGGAGTAGGAGGTGGGGGAGAGTCAGAAAATGACCAGGTGTCACTAAGTGACAGGAAAGGATAGGGCAGCTTTTGAGAGGCAGCAATTGGGGAAACAGTAAATGGTTTCATGTTTATATGTCATTAGGGTCAGACTGGTTAATAATCCGGTTATACACCTTGATTCACCTGAGCCCCAAGACCACCCGGCAGGAAACATTCTTGGCTCTCCAGCTCTCAGATGCTCCCCTCTTCCTATTGGTGCCCCATCTCCCTTTTAGAGGAATTCCCCATTGTGCAAGGTCCTGATGAAACACATCCTG
Task1_train_27604
A change on Chromosome 20 affects gene RSPO4 (R-spondin 4). Identify whether the variant is neutral or disease-linked. Mention the disease if applicable.
Pathogenic; Anonychia
GTCAACAGCGATGTCTGCATCTCGCGCATGCCACCCAGGGATCAGGGAGCTGGTTATTGAAACCCAGAGGAAACCCAGAGGGAGCGTTAGGTGGGGGATGGTGGCAGTGGGAGTGGAAAGAAGGCACCCAGAGGGCAGTGGAGGTGAGGATCAGCTGCTCAGGGAGGCTGGAGACACGGAGTCAGGGGCCATCAGCAGCTGGAATGACCATGAATGTGAGCCCGGAGGGAATGCGTGGGCAGAGAGGCACAGTGTAGATGAGAATGCCAAGGAGCAGCCTAGTGCAGGAACGGGAGGGCTCACAGGCAGGAGTGTGACAAGGAGCTGTTAGGAAATAATCAGAGCAGTAATAACACTGATACTGACACGTACTGAGCATCTACTGTGTGCTGGCTGCTGTACTGAGCACTTTAAATTGTACTAATTCACTTTATCCTCATAACAATTCCTCCCCATGAGGTAGGCTCTATGTTCTATTGTCTTTTTTTTTTTCTAACGTTTGGAGAAACCGAAGGACAGAGAGCTGAGGTGGTTTGCTTAAGATCACTAAAGGGTAAGGTTTAGAGCTAGGATTGGACCCCAGGCCTGTCCTATTCCAAAATCAGTGCTCAGCCAGGTGTGGTGGCTCATACCTATACTCCCAATGCTTTGGGAGGCTGAGGTGGGAAGACCGCTTGAGCCCAGGGGCAGCCTGGGCAACATAGCAAGAGCCTGTCTTTACAAAAACATAAACGCATAGCCAGCTGTTGTGGTACATGCCTGTGGTCCCAGTTACTCGGGAGGCTGAGGCGGGAGGATTCTCTGAGCCTAGGAGTTTGAGGCTGCAGTGAGCTATGATCATGCCACTGCACTCCAGCTGGGCAACAGAGTGAGACCCTATCTCAAACAAAACAAGCAAACAAGCAAACAAACAAACAAATAAACATCAGCGCTCTTCTTCTGCACTCTGCTGATTCCCTTGGCATTAATAACAATGCCAGTGTTGGTTGTAGTAGTAATCATAGTAATGGCGGTTATGTTGGCTCTAGTGTTTTGCAGTTACTATGTGGAGGTACCCAGTGTACCTGACATGGTGGTGCTGGGCCTTCCCTCACCATATGGCATTCTACTGTAATTTCTTCCAGGGCCCCTAACATCTCTCACCAAGCCCCCGCTCCAGGGAGAGGGGAGGGGCAGGGGCAGGGCGGGGAGGTCCCCACTCACCCTGGCACTCCCGTGTGTTCTGGTGGGCCAAAGTGCCCGGCGGGCAGGTGGGCAGACACTTCCCCTTGTACAAGTAAAACTGCCTCTTGCACCGGATGCAGAAGTCCTGGCTGAAGCAGCTCTCACAAGTGGCCCCACATTCTGTAATAGAGCCAGGGACACCCCAGGTGAGGGAGACTGCCAAGGATGGGGCCCACTGGGTCTGCCCGAGGTGGAAGGCCCTCTGGGTAGCTCCAGGCTTGGTAGCATTTGGGTCAGGACTCAGTGTCTCCTTTGAAGCCCAGACTTGGCCAAGGTCAAACTGGGCTGCATGTGAAGAGAACACTCCCTTTCTCATTTGAGGGGAGGCTCAGAGAGAGCGAGTGACTTGCTTGAAGTCACCCGCAAACCAGGGCTGGAGTGAGGACTCCCTGCTTCTTTTTCACCTCAGAAATAGTGATAATTTGCCCAAAGTTACAGCAAAAATTAGAGCTTGGAATTAGGACTCCTTTTCCTATTTGAGCTAAGACCAGAGAAGGTGAGTTACATGCCTAAGGCCACACCACAAACTAGGGTAGAAGTGAAAGTTGCCTGTTCTATTAGTGCTAATTAAGGCTGAGAGCGGACTGACTTGCCTCGGGCTGCGGAGTCAGCCTGGACACAGGCAGGTATCTCAGAGTCTGGGCTTAGACATGCACCTACTTCCCCTCTGTCTGTGCTGGGGTGAAAGGGTGGGATCTAAGCCCATGGTGTCTAGGAGCCCAGCACTAGCATAGAACAAGGGAGAAGCCACGTACTTTTGCACCTGTTGACCTCCTGGCCGCGGATGCCGAAGTACCCAGGGGGACAGTCGTGCAGGCACTTGCCGTACTGGCGGATGCCTTCCCGGCGGATGAACAGGAAGAGCCTCTGCTGGCAGGTGGAACAGCCGTTCTCCTCTGAGCAGATGATACAGCCTGTGCAGTTGCCCCCCAGGCCAGTGCCCACTGCCCACAAGACCAGGGCAGAAGGAGGGGGAAAGGGAGAGAGAGATGGTCAAACCATATATGCGAGCAGCTGAGATGGTCTCATTGGGATAGTAACTGGGCACATGGCCACCCAAACAAAAGACTACATTTCCCACCTTCCCTTACAACTAGATATGGTCATGTGACCAACATCTGGCCAATCAGATGTAAGGTAAAGCAGCATGTGACACTTCAAGAAAGCTGCCTTAAAGGGCAGGGGTGTGCCCCTTGTCGTCCCCTCATCCTTTCTGTTGGGTGGAATGTGAACGATGGCTGGAGCACAAGCAGCCATTTCAGATCATGAGGTGGAAACTATGTCCCGTGAGGCGGTGGAAAAATCAGATAAAAAGCACCTGGGTGCCTGAGGAAGGCAGAACTGCTGTACCAGCTCTAGCCTGCCTGTGTAGACTGTTACATGAGAGAGAAATCAACATCTATCTTGCTTAAATCACTGTTATTTGAAGTTTTCCATCACTCACAAGCAAACTTAATCTTTACCAAAGTAATGTGAATTTTTGAGTGTGTGTGGGTGCACATGATGAGTGGGGTGGGGTGAGACCCTCACCCTCCTGCTGGGTTCCTGAACAATACTCAGCAATACTCCATTTCTCACTGTCACCATCAGCAAGGGCTCCCACCATCATCAGGAATAGCAATGGGAGAAATTTTTTTAAGGAGAAAATTTTTTGTTACCCCAGAATTGGCACCCAGGAGCCAAAGCTGGGGAAAAAAGAGGTGGAAAATGCTCTAGAATCTTAAGTGAGCCTCTCCCAGGCTCATAAGGAGTCTCTGTTACCCTGACCATCACCCCAGGACCCTGATTAAGCTGAACACTTGCAGGGAGGGACTCATGGGAGTTAGGGATTGTCAGCCTGGCCAGGCACAGTGGCTCATGCCTGTCATCCCAGCATTTTGGGAGGCCAAGATGGGAGAATTGCTTGAGTCCAGGAGTTTGAGACCAGCCTGGACAATATGGCGAGGCCCTGTCTCTACAAAAAATACAAAAATTAGCCGGGTATGGTGGCACACACCTGTAGTCCCAGCTACTTGGGAGGCTAAGGTGGGAGGATCGCCTGAGCGGGGAAGGCTGCAGTGAGCTGTGTTTGTGCCACTGTACTCCAGTCGGAGAGACAGAGTGAAGCCATGTTTCCAATAAAGAAGAAAATAAAAAGAAGTGGACAGCCTAGGGAAGTGAGTTGTGGTGCTGTGACTTTTCCTCTGTTCCCAACCCTGCCAACGAAGTGAGGAGATGCCAGAGAAACTCACAAAGACAGGGGGTGCCTGCAAGAAGGTGCCAGCATCTCATGCCCTGCTTGGACATAAACTCATGTCCATAGCCCTGCGAATCTGCCCCCTTCCCATTCCTCTTTGAACAGAGAAAGGAGACCAGGAGACAGAAGGGCAGAGCTGAGGGGAAGAGTGTGATAGAAGAGCCTGCACATCCTTCCCGGCACGTGTGAGGGAGTTCTCAGTGGTAAGGGGCACCTTGGGAGCAGCCAGGCTTAGGTGGTATTCCTGCTGCCTGGCACAAGAAGGCTGGTTGCTGGGAGGTGCCCCAGCAGTAAGAGGCAGCAGGGGAGACCACTGGGAGTAGGAGGTGGGGGAGAGTCAGAAAATGACCAGGTGTCACTAAGTGACAGGAAAGGATAGGGCAGCTTTTGAGAGGCAGCAATTGGGGAAACAGTAAATGGTTTCATGTTTATATGTCATTAGGGTCAGACTGGTTAATAATCCGGTTATACACCTTGATTCACCTGAGCCCCAAGACCACCCGGCAGGAAACATTCTTGGCTCTCCAGCTCTCAGATGCTCCCCTCTTCCTATTGGTGCCCCATCTCCCTTTTAGAGGAATTCCCCATTGTGCAAGGTCCTGATGAAACACATCCTGGCACCTTCCCCCTGGAACA
GTCAACAGCGATGTCTGCATCTCGCGCATGCCACCCAGGGATCAGGGAGCTGGTTATTGAAACCCAGAGGAAACCCAGAGGGAGCGTTAGGTGGGGGATGGTGGCAGTGGGAGTGGAAAGAAGGCACCCAGAGGGCAGTGGAGGTGAGGATCAGCTGCTCAGGGAGGCTGGAGACACGGAGTCAGGGGCCATCAGCAGCTGGAATGACCATGAATGTGAGCCCGGAGGGAATGCGTGGGCAGAGAGGCACAGTGTAGATGAGAATGCCAAGGAGCAGCCTAGTGCAGGAACGGGAGGGCTCACAGGCAGGAGTGTGACAAGGAGCTGTTAGGAAATAATCAGAGCAGTAATAACACTGATACTGACACGTACTGAGCATCTACTGTGTGCTGGCTGCTGTACTGAGCACTTTAAATTGTACTAATTCACTTTATCCTCATAACAATTCCTCCCCATGAGGTAGGCTCTATGTTCTATTGTCTTTTTTTTTTTCTAACGTTTGGAGAAACCGAAGGACAGAGAGCTGAGGTGGTTTGCTTAAGATCACTAAAGGGTAAGGTTTAGAGCTAGGATTGGACCCCAGGCCTGTCCTATTCCAAAATCAGTGCTCAGCCAGGTGTGGTGGCTCATACCTATACTCCCAATGCTTTGGGAGGCTGAGGTGGGAAGACCGCTTGAGCCCAGGGGCAGCCTGGGCAACATAGCAAGAGCCTGTCTTTACAAAAACATAAACGCATAGCCAGCTGTTGTGGTACATGCCTGTGGTCCCAGTTACTCGGGAGGCTGAGGCGGGAGGATTCTCTGAGCCTAGGAGTTTGAGGCTGCAGTGAGCTATGATCATGCCACTGCACTCCAGCTGGGCAACAGAGTGAGACCCTATCTCAAACAAAACAAGCAAACAAGCAAACAAACAAACAAATAAACATCAGCGCTCTTCTTCTGCACTCTGCTGATTCCCTTGGCATTAATAACAATGCCAGTGTTGGTTGTAGTAGTAATCATAGTAATGGCGGTTATGTTGGCTCTAGTGTTTTGCAGTTACTATGTGGAGGTACCCAGTGTACCTGACATGGTGGTGCTGGGCCTTCCCTCACCATATGGCATTCTACTGTAATTTCTTCCAGGGCCCCTAACATCTCTCACCAAGCCCCCGCTCCAGGGAGAGGGGAGGGGCAGGGGCAGGGCGGGGAGGTCCCCACTCACCCTGGCACTCCCGTGTGTTCTGGTGGGCCAAAGTGCCCGGCGGGCAGGTGGGCAGACACTTCCCCTTGTACAAGTAAAACTGCCTCTTGCACCGGATGCAGAAGTCCTGGCTGAAGCAGCTCTCACAAGTGGCCCCACATTCTGTAATAGAGCCAGGGACACCCCAGGTGAGGGAGACTGCCAAGGATGGGGCCCACTGGGTCTGCCCGAGGTGGAAGGCCCTCTGGGTAGCTCCAGGCTTGGTAGCATTTGGGTCAGGACTCAGTGTCTCCTTTGAAGCCCAGACTTGGCCAAGGTCAAACTGGGCTGCATGTGAAGAGAACACTCCCTTTCTCATTTGAGGGGAGGCTCAGAGAGAGCGAGTGACTTGCTTGAAGTCACCCGCAAACCAGGGCTGGAGTGAGGACTCCCTGCTTCTTTTTCACCTCAGAAATAGTGATAATTTGCCCAAAGTTACAGCAAAAATTAGAGCTTGGAATTAGGACTCCTTTTCCTATTTGAGCTAAGACCAGAGAAGGTGAGTTACATGCCTAAGGCCACACCACAAACTAGGGTAGAAGTGAAAGTTGCCTGTTCTATTAGTGCTAATTAAGGCTGAGAGCGGACTGACTTGCCTCGGGCTGCGGAGTCAGCCTGGACACAGGCAGGTATCTCAGAGTCTGGGCTTAGACATGCACCTACTTCCCCTCTGTCTGTGCTGGGGTGAAAGGGTGGGATCTAAGCCCATGGTGTCTAGGAGCCCAGCACTAGCATAGAACAAGGGAGAAGCCACGTACTTTTGCACCTGTTGACCTCCTGGCCGCGGATGCCGAAGTACCCAGGGGGACAGTCGTGCAGGCACTTGCGGTACTGGCGGATGCCTTCCCGGCGGATGAACAGGAAGAGCCTCTGCTGGCAGGTGGAACAGCCGTTCTCCTCTGAGCAGATGATACAGCCTGTGCAGTTGCCCCCCAGGCCAGTGCCCACTGCCCACAAGACCAGGGCAGAAGGAGGGGGAAAGGGAGAGAGAGATGGTCAAACCATATATGCGAGCAGCTGAGATGGTCTCATTGGGATAGTAACTGGGCACATGGCCACCCAAACAAAAGACTACATTTCCCACCTTCCCTTACAACTAGATATGGTCATGTGACCAACATCTGGCCAATCAGATGTAAGGTAAAGCAGCATGTGACACTTCAAGAAAGCTGCCTTAAAGGGCAGGGGTGTGCCCCTTGTCGTCCCCTCATCCTTTCTGTTGGGTGGAATGTGAACGATGGCTGGAGCACAAGCAGCCATTTCAGATCATGAGGTGGAAACTATGTCCCGTGAGGCGGTGGAAAAATCAGATAAAAAGCACCTGGGTGCCTGAGGAAGGCAGAACTGCTGTACCAGCTCTAGCCTGCCTGTGTAGACTGTTACATGAGAGAGAAATCAACATCTATCTTGCTTAAATCACTGTTATTTGAAGTTTTCCATCACTCACAAGCAAACTTAATCTTTACCAAAGTAATGTGAATTTTTGAGTGTGTGTGGGTGCACATGATGAGTGGGGTGGGGTGAGACCCTCACCCTCCTGCTGGGTTCCTGAACAATACTCAGCAATACTCCATTTCTCACTGTCACCATCAGCAAGGGCTCCCACCATCATCAGGAATAGCAATGGGAGAAATTTTTTTAAGGAGAAAATTTTTTGTTACCCCAGAATTGGCACCCAGGAGCCAAAGCTGGGGAAAAAAGAGGTGGAAAATGCTCTAGAATCTTAAGTGAGCCTCTCCCAGGCTCATAAGGAGTCTCTGTTACCCTGACCATCACCCCAGGACCCTGATTAAGCTGAACACTTGCAGGGAGGGACTCATGGGAGTTAGGGATTGTCAGCCTGGCCAGGCACAGTGGCTCATGCCTGTCATCCCAGCATTTTGGGAGGCCAAGATGGGAGAATTGCTTGAGTCCAGGAGTTTGAGACCAGCCTGGACAATATGGCGAGGCCCTGTCTCTACAAAAAATACAAAAATTAGCCGGGTATGGTGGCACACACCTGTAGTCCCAGCTACTTGGGAGGCTAAGGTGGGAGGATCGCCTGAGCGGGGAAGGCTGCAGTGAGCTGTGTTTGTGCCACTGTACTCCAGTCGGAGAGACAGAGTGAAGCCATGTTTCCAATAAAGAAGAAAATAAAAAGAAGTGGACAGCCTAGGGAAGTGAGTTGTGGTGCTGTGACTTTTCCTCTGTTCCCAACCCTGCCAACGAAGTGAGGAGATGCCAGAGAAACTCACAAAGACAGGGGGTGCCTGCAAGAAGGTGCCAGCATCTCATGCCCTGCTTGGACATAAACTCATGTCCATAGCCCTGCGAATCTGCCCCCTTCCCATTCCTCTTTGAACAGAGAAAGGAGACCAGGAGACAGAAGGGCAGAGCTGAGGGGAAGAGTGTGATAGAAGAGCCTGCACATCCTTCCCGGCACGTGTGAGGGAGTTCTCAGTGGTAAGGGGCACCTTGGGAGCAGCCAGGCTTAGGTGGTATTCCTGCTGCCTGGCACAAGAAGGCTGGTTGCTGGGAGGTGCCCCAGCAGTAAGAGGCAGCAGGGGAGACCACTGGGAGTAGGAGGTGGGGGAGAGTCAGAAAATGACCAGGTGTCACTAAGTGACAGGAAAGGATAGGGCAGCTTTTGAGAGGCAGCAATTGGGGAAACAGTAAATGGTTTCATGTTTATATGTCATTAGGGTCAGACTGGTTAATAATCCGGTTATACACCTTGATTCACCTGAGCCCCAAGACCACCCGGCAGGAAACATTCTTGGCTCTCCAGCTCTCAGATGCTCCCCTCTTCCTATTGGTGCCCCATCTCCCTTTTAGAGGAATTCCCCATTGTGCAAGGTCCTGATGAAACACATCCTGGCACCTTCCCCCTGGAACA
Task1_train_27605
Chromosome 20 houses a mutation in gene RSPO4 (R-spondin 4). Classify its clinical impact — is it pathogenic or benign, and what disease does it lead to if any?
Pathogenic; Anonychia
CAGCGATGTCTGCATCTCGCGCATGCCACCCAGGGATCAGGGAGCTGGTTATTGAAACCCAGAGGAAACCCAGAGGGAGCGTTAGGTGGGGGATGGTGGCAGTGGGAGTGGAAAGAAGGCACCCAGAGGGCAGTGGAGGTGAGGATCAGCTGCTCAGGGAGGCTGGAGACACGGAGTCAGGGGCCATCAGCAGCTGGAATGACCATGAATGTGAGCCCGGAGGGAATGCGTGGGCAGAGAGGCACAGTGTAGATGAGAATGCCAAGGAGCAGCCTAGTGCAGGAACGGGAGGGCTCACAGGCAGGAGTGTGACAAGGAGCTGTTAGGAAATAATCAGAGCAGTAATAACACTGATACTGACACGTACTGAGCATCTACTGTGTGCTGGCTGCTGTACTGAGCACTTTAAATTGTACTAATTCACTTTATCCTCATAACAATTCCTCCCCATGAGGTAGGCTCTATGTTCTATTGTCTTTTTTTTTTTCTAACGTTTGGAGAAACCGAAGGACAGAGAGCTGAGGTGGTTTGCTTAAGATCACTAAAGGGTAAGGTTTAGAGCTAGGATTGGACCCCAGGCCTGTCCTATTCCAAAATCAGTGCTCAGCCAGGTGTGGTGGCTCATACCTATACTCCCAATGCTTTGGGAGGCTGAGGTGGGAAGACCGCTTGAGCCCAGGGGCAGCCTGGGCAACATAGCAAGAGCCTGTCTTTACAAAAACATAAACGCATAGCCAGCTGTTGTGGTACATGCCTGTGGTCCCAGTTACTCGGGAGGCTGAGGCGGGAGGATTCTCTGAGCCTAGGAGTTTGAGGCTGCAGTGAGCTATGATCATGCCACTGCACTCCAGCTGGGCAACAGAGTGAGACCCTATCTCAAACAAAACAAGCAAACAAGCAAACAAACAAACAAATAAACATCAGCGCTCTTCTTCTGCACTCTGCTGATTCCCTTGGCATTAATAACAATGCCAGTGTTGGTTGTAGTAGTAATCATAGTAATGGCGGTTATGTTGGCTCTAGTGTTTTGCAGTTACTATGTGGAGGTACCCAGTGTACCTGACATGGTGGTGCTGGGCCTTCCCTCACCATATGGCATTCTACTGTAATTTCTTCCAGGGCCCCTAACATCTCTCACCAAGCCCCCGCTCCAGGGAGAGGGGAGGGGCAGGGGCAGGGCGGGGAGGTCCCCACTCACCCTGGCACTCCCGTGTGTTCTGGTGGGCCAAAGTGCCCGGCGGGCAGGTGGGCAGACACTTCCCCTTGTACAAGTAAAACTGCCTCTTGCACCGGATGCAGAAGTCCTGGCTGAAGCAGCTCTCACAAGTGGCCCCACATTCTGTAATAGAGCCAGGGACACCCCAGGTGAGGGAGACTGCCAAGGATGGGGCCCACTGGGTCTGCCCGAGGTGGAAGGCCCTCTGGGTAGCTCCAGGCTTGGTAGCATTTGGGTCAGGACTCAGTGTCTCCTTTGAAGCCCAGACTTGGCCAAGGTCAAACTGGGCTGCATGTGAAGAGAACACTCCCTTTCTCATTTGAGGGGAGGCTCAGAGAGAGCGAGTGACTTGCTTGAAGTCACCCGCAAACCAGGGCTGGAGTGAGGACTCCCTGCTTCTTTTTCACCTCAGAAATAGTGATAATTTGCCCAAAGTTACAGCAAAAATTAGAGCTTGGAATTAGGACTCCTTTTCCTATTTGAGCTAAGACCAGAGAAGGTGAGTTACATGCCTAAGGCCACACCACAAACTAGGGTAGAAGTGAAAGTTGCCTGTTCTATTAGTGCTAATTAAGGCTGAGAGCGGACTGACTTGCCTCGGGCTGCGGAGTCAGCCTGGACACAGGCAGGTATCTCAGAGTCTGGGCTTAGACATGCACCTACTTCCCCTCTGTCTGTGCTGGGGTGAAAGGGTGGGATCTAAGCCCATGGTGTCTAGGAGCCCAGCACTAGCATAGAACAAGGGAGAAGCCACGTACTTTTGCACCTGTTGACCTCCTGGCCGCGGATGCCGAAGTACCCAGGGGGACAGTCGTGCAGGCACTTGCCGTACTGGCGGATGCCTTCCCGGCGGATGAACAGGAAGAGCCTCTGCTGGCAGGTGGAACAGCCGTTCTCCTCTGAGCAGATGATACAGCCTGTGCAGTTGCCCCCCAGGCCAGTGCCCACTGCCCACAAGACCAGGGCAGAAGGAGGGGGAAAGGGAGAGAGAGATGGTCAAACCATATATGCGAGCAGCTGAGATGGTCTCATTGGGATAGTAACTGGGCACATGGCCACCCAAACAAAAGACTACATTTCCCACCTTCCCTTACAACTAGATATGGTCATGTGACCAACATCTGGCCAATCAGATGTAAGGTAAAGCAGCATGTGACACTTCAAGAAAGCTGCCTTAAAGGGCAGGGGTGTGCCCCTTGTCGTCCCCTCATCCTTTCTGTTGGGTGGAATGTGAACGATGGCTGGAGCACAAGCAGCCATTTCAGATCATGAGGTGGAAACTATGTCCCGTGAGGCGGTGGAAAAATCAGATAAAAAGCACCTGGGTGCCTGAGGAAGGCAGAACTGCTGTACCAGCTCTAGCCTGCCTGTGTAGACTGTTACATGAGAGAGAAATCAACATCTATCTTGCTTAAATCACTGTTATTTGAAGTTTTCCATCACTCACAAGCAAACTTAATCTTTACCAAAGTAATGTGAATTTTTGAGTGTGTGTGGGTGCACATGATGAGTGGGGTGGGGTGAGACCCTCACCCTCCTGCTGGGTTCCTGAACAATACTCAGCAATACTCCATTTCTCACTGTCACCATCAGCAAGGGCTCCCACCATCATCAGGAATAGCAATGGGAGAAATTTTTTTAAGGAGAAAATTTTTTGTTACCCCAGAATTGGCACCCAGGAGCCAAAGCTGGGGAAAAAAGAGGTGGAAAATGCTCTAGAATCTTAAGTGAGCCTCTCCCAGGCTCATAAGGAGTCTCTGTTACCCTGACCATCACCCCAGGACCCTGATTAAGCTGAACACTTGCAGGGAGGGACTCATGGGAGTTAGGGATTGTCAGCCTGGCCAGGCACAGTGGCTCATGCCTGTCATCCCAGCATTTTGGGAGGCCAAGATGGGAGAATTGCTTGAGTCCAGGAGTTTGAGACCAGCCTGGACAATATGGCGAGGCCCTGTCTCTACAAAAAATACAAAAATTAGCCGGGTATGGTGGCACACACCTGTAGTCCCAGCTACTTGGGAGGCTAAGGTGGGAGGATCGCCTGAGCGGGGAAGGCTGCAGTGAGCTGTGTTTGTGCCACTGTACTCCAGTCGGAGAGACAGAGTGAAGCCATGTTTCCAATAAAGAAGAAAATAAAAAGAAGTGGACAGCCTAGGGAAGTGAGTTGTGGTGCTGTGACTTTTCCTCTGTTCCCAACCCTGCCAACGAAGTGAGGAGATGCCAGAGAAACTCACAAAGACAGGGGGTGCCTGCAAGAAGGTGCCAGCATCTCATGCCCTGCTTGGACATAAACTCATGTCCATAGCCCTGCGAATCTGCCCCCTTCCCATTCCTCTTTGAACAGAGAAAGGAGACCAGGAGACAGAAGGGCAGAGCTGAGGGGAAGAGTGTGATAGAAGAGCCTGCACATCCTTCCCGGCACGTGTGAGGGAGTTCTCAGTGGTAAGGGGCACCTTGGGAGCAGCCAGGCTTAGGTGGTATTCCTGCTGCCTGGCACAAGAAGGCTGGTTGCTGGGAGGTGCCCCAGCAGTAAGAGGCAGCAGGGGAGACCACTGGGAGTAGGAGGTGGGGGAGAGTCAGAAAATGACCAGGTGTCACTAAGTGACAGGAAAGGATAGGGCAGCTTTTGAGAGGCAGCAATTGGGGAAACAGTAAATGGTTTCATGTTTATATGTCATTAGGGTCAGACTGGTTAATAATCCGGTTATACACCTTGATTCACCTGAGCCCCAAGACCACCCGGCAGGAAACATTCTTGGCTCTCCAGCTCTCAGATGCTCCCCTCTTCCTATTGGTGCCCCATCTCCCTTTTAGAGGAATTCCCCATTGTGCAAGGTCCTGATGAAACACATCCTGGCACCTTCCCCCTGGAACAGAAAC
CAGCGATGTCTGCATCTCGCGCATGCCACCCAGGGATCAGGGAGCTGGTTATTGAAACCCAGAGGAAACCCAGAGGGAGCGTTAGGTGGGGGATGGTGGCAGTGGGAGTGGAAAGAAGGCACCCAGAGGGCAGTGGAGGTGAGGATCAGCTGCTCAGGGAGGCTGGAGACACGGAGTCAGGGGCCATCAGCAGCTGGAATGACCATGAATGTGAGCCCGGAGGGAATGCGTGGGCAGAGAGGCACAGTGTAGATGAGAATGCCAAGGAGCAGCCTAGTGCAGGAACGGGAGGGCTCACAGGCAGGAGTGTGACAAGGAGCTGTTAGGAAATAATCAGAGCAGTAATAACACTGATACTGACACGTACTGAGCATCTACTGTGTGCTGGCTGCTGTACTGAGCACTTTAAATTGTACTAATTCACTTTATCCTCATAACAATTCCTCCCCATGAGGTAGGCTCTATGTTCTATTGTCTTTTTTTTTTTCTAACGTTTGGAGAAACCGAAGGACAGAGAGCTGAGGTGGTTTGCTTAAGATCACTAAAGGGTAAGGTTTAGAGCTAGGATTGGACCCCAGGCCTGTCCTATTCCAAAATCAGTGCTCAGCCAGGTGTGGTGGCTCATACCTATACTCCCAATGCTTTGGGAGGCTGAGGTGGGAAGACCGCTTGAGCCCAGGGGCAGCCTGGGCAACATAGCAAGAGCCTGTCTTTACAAAAACATAAACGCATAGCCAGCTGTTGTGGTACATGCCTGTGGTCCCAGTTACTCGGGAGGCTGAGGCGGGAGGATTCTCTGAGCCTAGGAGTTTGAGGCTGCAGTGAGCTATGATCATGCCACTGCACTCCAGCTGGGCAACAGAGTGAGACCCTATCTCAAACAAAACAAGCAAACAAGCAAACAAACAAACAAATAAACATCAGCGCTCTTCTTCTGCACTCTGCTGATTCCCTTGGCATTAATAACAATGCCAGTGTTGGTTGTAGTAGTAATCATAGTAATGGCGGTTATGTTGGCTCTAGTGTTTTGCAGTTACTATGTGGAGGTACCCAGTGTACCTGACATGGTGGTGCTGGGCCTTCCCTCACCATATGGCATTCTACTGTAATTTCTTCCAGGGCCCCTAACATCTCTCACCAAGCCCCCGCTCCAGGGAGAGGGGAGGGGCAGGGGCAGGGCGGGGAGGTCCCCACTCACCCTGGCACTCCCGTGTGTTCTGGTGGGCCAAAGTGCCCGGCGGGCAGGTGGGCAGACACTTCCCCTTGTACAAGTAAAACTGCCTCTTGCACCGGATGCAGAAGTCCTGGCTGAAGCAGCTCTCACAAGTGGCCCCACATTCTGTAATAGAGCCAGGGACACCCCAGGTGAGGGAGACTGCCAAGGATGGGGCCCACTGGGTCTGCCCGAGGTGGAAGGCCCTCTGGGTAGCTCCAGGCTTGGTAGCATTTGGGTCAGGACTCAGTGTCTCCTTTGAAGCCCAGACTTGGCCAAGGTCAAACTGGGCTGCATGTGAAGAGAACACTCCCTTTCTCATTTGAGGGGAGGCTCAGAGAGAGCGAGTGACTTGCTTGAAGTCACCCGCAAACCAGGGCTGGAGTGAGGACTCCCTGCTTCTTTTTCACCTCAGAAATAGTGATAATTTGCCCAAAGTTACAGCAAAAATTAGAGCTTGGAATTAGGACTCCTTTTCCTATTTGAGCTAAGACCAGAGAAGGTGAGTTACATGCCTAAGGCCACACCACAAACTAGGGTAGAAGTGAAAGTTGCCTGTTCTATTAGTGCTAATTAAGGCTGAGAGCGGACTGACTTGCCTCGGGCTGCGGAGTCAGCCTGGACACAGGCAGGTATCTCAGAGTCTGGGCTTAGACATGCACCTACTTCCCCTCTGTCTGTGCTGGGGTGAAAGGGTGGGATCTAAGCCCATGGTGTCTAGGAGCCCAGCACTAGCATAGAACAAGGGAGAAGCCACGTACTTTTGCACCTGTTGACCTCCTGGCCGCGGATGCCGAAGTACCCAGGGGGACAGTCGTGCAGGCACTTGCCGTACCGGCGGATGCCTTCCCGGCGGATGAACAGGAAGAGCCTCTGCTGGCAGGTGGAACAGCCGTTCTCCTCTGAGCAGATGATACAGCCTGTGCAGTTGCCCCCCAGGCCAGTGCCCACTGCCCACAAGACCAGGGCAGAAGGAGGGGGAAAGGGAGAGAGAGATGGTCAAACCATATATGCGAGCAGCTGAGATGGTCTCATTGGGATAGTAACTGGGCACATGGCCACCCAAACAAAAGACTACATTTCCCACCTTCCCTTACAACTAGATATGGTCATGTGACCAACATCTGGCCAATCAGATGTAAGGTAAAGCAGCATGTGACACTTCAAGAAAGCTGCCTTAAAGGGCAGGGGTGTGCCCCTTGTCGTCCCCTCATCCTTTCTGTTGGGTGGAATGTGAACGATGGCTGGAGCACAAGCAGCCATTTCAGATCATGAGGTGGAAACTATGTCCCGTGAGGCGGTGGAAAAATCAGATAAAAAGCACCTGGGTGCCTGAGGAAGGCAGAACTGCTGTACCAGCTCTAGCCTGCCTGTGTAGACTGTTACATGAGAGAGAAATCAACATCTATCTTGCTTAAATCACTGTTATTTGAAGTTTTCCATCACTCACAAGCAAACTTAATCTTTACCAAAGTAATGTGAATTTTTGAGTGTGTGTGGGTGCACATGATGAGTGGGGTGGGGTGAGACCCTCACCCTCCTGCTGGGTTCCTGAACAATACTCAGCAATACTCCATTTCTCACTGTCACCATCAGCAAGGGCTCCCACCATCATCAGGAATAGCAATGGGAGAAATTTTTTTAAGGAGAAAATTTTTTGTTACCCCAGAATTGGCACCCAGGAGCCAAAGCTGGGGAAAAAAGAGGTGGAAAATGCTCTAGAATCTTAAGTGAGCCTCTCCCAGGCTCATAAGGAGTCTCTGTTACCCTGACCATCACCCCAGGACCCTGATTAAGCTGAACACTTGCAGGGAGGGACTCATGGGAGTTAGGGATTGTCAGCCTGGCCAGGCACAGTGGCTCATGCCTGTCATCCCAGCATTTTGGGAGGCCAAGATGGGAGAATTGCTTGAGTCCAGGAGTTTGAGACCAGCCTGGACAATATGGCGAGGCCCTGTCTCTACAAAAAATACAAAAATTAGCCGGGTATGGTGGCACACACCTGTAGTCCCAGCTACTTGGGAGGCTAAGGTGGGAGGATCGCCTGAGCGGGGAAGGCTGCAGTGAGCTGTGTTTGTGCCACTGTACTCCAGTCGGAGAGACAGAGTGAAGCCATGTTTCCAATAAAGAAGAAAATAAAAAGAAGTGGACAGCCTAGGGAAGTGAGTTGTGGTGCTGTGACTTTTCCTCTGTTCCCAACCCTGCCAACGAAGTGAGGAGATGCCAGAGAAACTCACAAAGACAGGGGGTGCCTGCAAGAAGGTGCCAGCATCTCATGCCCTGCTTGGACATAAACTCATGTCCATAGCCCTGCGAATCTGCCCCCTTCCCATTCCTCTTTGAACAGAGAAAGGAGACCAGGAGACAGAAGGGCAGAGCTGAGGGGAAGAGTGTGATAGAAGAGCCTGCACATCCTTCCCGGCACGTGTGAGGGAGTTCTCAGTGGTAAGGGGCACCTTGGGAGCAGCCAGGCTTAGGTGGTATTCCTGCTGCCTGGCACAAGAAGGCTGGTTGCTGGGAGGTGCCCCAGCAGTAAGAGGCAGCAGGGGAGACCACTGGGAGTAGGAGGTGGGGGAGAGTCAGAAAATGACCAGGTGTCACTAAGTGACAGGAAAGGATAGGGCAGCTTTTGAGAGGCAGCAATTGGGGAAACAGTAAATGGTTTCATGTTTATATGTCATTAGGGTCAGACTGGTTAATAATCCGGTTATACACCTTGATTCACCTGAGCCCCAAGACCACCCGGCAGGAAACATTCTTGGCTCTCCAGCTCTCAGATGCTCCCCTCTTCCTATTGGTGCCCCATCTCCCTTTTAGAGGAATTCCCCATTGTGCAAGGTCCTGATGAAACACATCCTGGCACCTTCCCCCTGGAACAGAAAC
Task1_train_27606
Consider a variant on Chromosome 20 in gene RSPO4 (R-spondin 4). Determine its clinical classification and disease relevance.
Pathogenic; Anonychia
GATGTCTGCATCTCGCGCATGCCACCCAGGGATCAGGGAGCTGGTTATTGAAACCCAGAGGAAACCCAGAGGGAGCGTTAGGTGGGGGATGGTGGCAGTGGGAGTGGAAAGAAGGCACCCAGAGGGCAGTGGAGGTGAGGATCAGCTGCTCAGGGAGGCTGGAGACACGGAGTCAGGGGCCATCAGCAGCTGGAATGACCATGAATGTGAGCCCGGAGGGAATGCGTGGGCAGAGAGGCACAGTGTAGATGAGAATGCCAAGGAGCAGCCTAGTGCAGGAACGGGAGGGCTCACAGGCAGGAGTGTGACAAGGAGCTGTTAGGAAATAATCAGAGCAGTAATAACACTGATACTGACACGTACTGAGCATCTACTGTGTGCTGGCTGCTGTACTGAGCACTTTAAATTGTACTAATTCACTTTATCCTCATAACAATTCCTCCCCATGAGGTAGGCTCTATGTTCTATTGTCTTTTTTTTTTTCTAACGTTTGGAGAAACCGAAGGACAGAGAGCTGAGGTGGTTTGCTTAAGATCACTAAAGGGTAAGGTTTAGAGCTAGGATTGGACCCCAGGCCTGTCCTATTCCAAAATCAGTGCTCAGCCAGGTGTGGTGGCTCATACCTATACTCCCAATGCTTTGGGAGGCTGAGGTGGGAAGACCGCTTGAGCCCAGGGGCAGCCTGGGCAACATAGCAAGAGCCTGTCTTTACAAAAACATAAACGCATAGCCAGCTGTTGTGGTACATGCCTGTGGTCCCAGTTACTCGGGAGGCTGAGGCGGGAGGATTCTCTGAGCCTAGGAGTTTGAGGCTGCAGTGAGCTATGATCATGCCACTGCACTCCAGCTGGGCAACAGAGTGAGACCCTATCTCAAACAAAACAAGCAAACAAGCAAACAAACAAACAAATAAACATCAGCGCTCTTCTTCTGCACTCTGCTGATTCCCTTGGCATTAATAACAATGCCAGTGTTGGTTGTAGTAGTAATCATAGTAATGGCGGTTATGTTGGCTCTAGTGTTTTGCAGTTACTATGTGGAGGTACCCAGTGTACCTGACATGGTGGTGCTGGGCCTTCCCTCACCATATGGCATTCTACTGTAATTTCTTCCAGGGCCCCTAACATCTCTCACCAAGCCCCCGCTCCAGGGAGAGGGGAGGGGCAGGGGCAGGGCGGGGAGGTCCCCACTCACCCTGGCACTCCCGTGTGTTCTGGTGGGCCAAAGTGCCCGGCGGGCAGGTGGGCAGACACTTCCCCTTGTACAAGTAAAACTGCCTCTTGCACCGGATGCAGAAGTCCTGGCTGAAGCAGCTCTCACAAGTGGCCCCACATTCTGTAATAGAGCCAGGGACACCCCAGGTGAGGGAGACTGCCAAGGATGGGGCCCACTGGGTCTGCCCGAGGTGGAAGGCCCTCTGGGTAGCTCCAGGCTTGGTAGCATTTGGGTCAGGACTCAGTGTCTCCTTTGAAGCCCAGACTTGGCCAAGGTCAAACTGGGCTGCATGTGAAGAGAACACTCCCTTTCTCATTTGAGGGGAGGCTCAGAGAGAGCGAGTGACTTGCTTGAAGTCACCCGCAAACCAGGGCTGGAGTGAGGACTCCCTGCTTCTTTTTCACCTCAGAAATAGTGATAATTTGCCCAAAGTTACAGCAAAAATTAGAGCTTGGAATTAGGACTCCTTTTCCTATTTGAGCTAAGACCAGAGAAGGTGAGTTACATGCCTAAGGCCACACCACAAACTAGGGTAGAAGTGAAAGTTGCCTGTTCTATTAGTGCTAATTAAGGCTGAGAGCGGACTGACTTGCCTCGGGCTGCGGAGTCAGCCTGGACACAGGCAGGTATCTCAGAGTCTGGGCTTAGACATGCACCTACTTCCCCTCTGTCTGTGCTGGGGTGAAAGGGTGGGATCTAAGCCCATGGTGTCTAGGAGCCCAGCACTAGCATAGAACAAGGGAGAAGCCACGTACTTTTGCACCTGTTGACCTCCTGGCCGCGGATGCCGAAGTACCCAGGGGGACAGTCGTGCAGGCACTTGCCGTACTGGCGGATGCCTTCCCGGCGGATGAACAGGAAGAGCCTCTGCTGGCAGGTGGAACAGCCGTTCTCCTCTGAGCAGATGATACAGCCTGTGCAGTTGCCCCCCAGGCCAGTGCCCACTGCCCACAAGACCAGGGCAGAAGGAGGGGGAAAGGGAGAGAGAGATGGTCAAACCATATATGCGAGCAGCTGAGATGGTCTCATTGGGATAGTAACTGGGCACATGGCCACCCAAACAAAAGACTACATTTCCCACCTTCCCTTACAACTAGATATGGTCATGTGACCAACATCTGGCCAATCAGATGTAAGGTAAAGCAGCATGTGACACTTCAAGAAAGCTGCCTTAAAGGGCAGGGGTGTGCCCCTTGTCGTCCCCTCATCCTTTCTGTTGGGTGGAATGTGAACGATGGCTGGAGCACAAGCAGCCATTTCAGATCATGAGGTGGAAACTATGTCCCGTGAGGCGGTGGAAAAATCAGATAAAAAGCACCTGGGTGCCTGAGGAAGGCAGAACTGCTGTACCAGCTCTAGCCTGCCTGTGTAGACTGTTACATGAGAGAGAAATCAACATCTATCTTGCTTAAATCACTGTTATTTGAAGTTTTCCATCACTCACAAGCAAACTTAATCTTTACCAAAGTAATGTGAATTTTTGAGTGTGTGTGGGTGCACATGATGAGTGGGGTGGGGTGAGACCCTCACCCTCCTGCTGGGTTCCTGAACAATACTCAGCAATACTCCATTTCTCACTGTCACCATCAGCAAGGGCTCCCACCATCATCAGGAATAGCAATGGGAGAAATTTTTTTAAGGAGAAAATTTTTTGTTACCCCAGAATTGGCACCCAGGAGCCAAAGCTGGGGAAAAAAGAGGTGGAAAATGCTCTAGAATCTTAAGTGAGCCTCTCCCAGGCTCATAAGGAGTCTCTGTTACCCTGACCATCACCCCAGGACCCTGATTAAGCTGAACACTTGCAGGGAGGGACTCATGGGAGTTAGGGATTGTCAGCCTGGCCAGGCACAGTGGCTCATGCCTGTCATCCCAGCATTTTGGGAGGCCAAGATGGGAGAATTGCTTGAGTCCAGGAGTTTGAGACCAGCCTGGACAATATGGCGAGGCCCTGTCTCTACAAAAAATACAAAAATTAGCCGGGTATGGTGGCACACACCTGTAGTCCCAGCTACTTGGGAGGCTAAGGTGGGAGGATCGCCTGAGCGGGGAAGGCTGCAGTGAGCTGTGTTTGTGCCACTGTACTCCAGTCGGAGAGACAGAGTGAAGCCATGTTTCCAATAAAGAAGAAAATAAAAAGAAGTGGACAGCCTAGGGAAGTGAGTTGTGGTGCTGTGACTTTTCCTCTGTTCCCAACCCTGCCAACGAAGTGAGGAGATGCCAGAGAAACTCACAAAGACAGGGGGTGCCTGCAAGAAGGTGCCAGCATCTCATGCCCTGCTTGGACATAAACTCATGTCCATAGCCCTGCGAATCTGCCCCCTTCCCATTCCTCTTTGAACAGAGAAAGGAGACCAGGAGACAGAAGGGCAGAGCTGAGGGGAAGAGTGTGATAGAAGAGCCTGCACATCCTTCCCGGCACGTGTGAGGGAGTTCTCAGTGGTAAGGGGCACCTTGGGAGCAGCCAGGCTTAGGTGGTATTCCTGCTGCCTGGCACAAGAAGGCTGGTTGCTGGGAGGTGCCCCAGCAGTAAGAGGCAGCAGGGGAGACCACTGGGAGTAGGAGGTGGGGGAGAGTCAGAAAATGACCAGGTGTCACTAAGTGACAGGAAAGGATAGGGCAGCTTTTGAGAGGCAGCAATTGGGGAAACAGTAAATGGTTTCATGTTTATATGTCATTAGGGTCAGACTGGTTAATAATCCGGTTATACACCTTGATTCACCTGAGCCCCAAGACCACCCGGCAGGAAACATTCTTGGCTCTCCAGCTCTCAGATGCTCCCCTCTTCCTATTGGTGCCCCATCTCCCTTTTAGAGGAATTCCCCATTGTGCAAGGTCCTGATGAAACACATCCTGGCACCTTCCCCCTGGAACAGAAACCAAA
GATGTCTGCATCTCGCGCATGCCACCCAGGGATCAGGGAGCTGGTTATTGAAACCCAGAGGAAACCCAGAGGGAGCGTTAGGTGGGGGATGGTGGCAGTGGGAGTGGAAAGAAGGCACCCAGAGGGCAGTGGAGGTGAGGATCAGCTGCTCAGGGAGGCTGGAGACACGGAGTCAGGGGCCATCAGCAGCTGGAATGACCATGAATGTGAGCCCGGAGGGAATGCGTGGGCAGAGAGGCACAGTGTAGATGAGAATGCCAAGGAGCAGCCTAGTGCAGGAACGGGAGGGCTCACAGGCAGGAGTGTGACAAGGAGCTGTTAGGAAATAATCAGAGCAGTAATAACACTGATACTGACACGTACTGAGCATCTACTGTGTGCTGGCTGCTGTACTGAGCACTTTAAATTGTACTAATTCACTTTATCCTCATAACAATTCCTCCCCATGAGGTAGGCTCTATGTTCTATTGTCTTTTTTTTTTTCTAACGTTTGGAGAAACCGAAGGACAGAGAGCTGAGGTGGTTTGCTTAAGATCACTAAAGGGTAAGGTTTAGAGCTAGGATTGGACCCCAGGCCTGTCCTATTCCAAAATCAGTGCTCAGCCAGGTGTGGTGGCTCATACCTATACTCCCAATGCTTTGGGAGGCTGAGGTGGGAAGACCGCTTGAGCCCAGGGGCAGCCTGGGCAACATAGCAAGAGCCTGTCTTTACAAAAACATAAACGCATAGCCAGCTGTTGTGGTACATGCCTGTGGTCCCAGTTACTCGGGAGGCTGAGGCGGGAGGATTCTCTGAGCCTAGGAGTTTGAGGCTGCAGTGAGCTATGATCATGCCACTGCACTCCAGCTGGGCAACAGAGTGAGACCCTATCTCAAACAAAACAAGCAAACAAGCAAACAAACAAACAAATAAACATCAGCGCTCTTCTTCTGCACTCTGCTGATTCCCTTGGCATTAATAACAATGCCAGTGTTGGTTGTAGTAGTAATCATAGTAATGGCGGTTATGTTGGCTCTAGTGTTTTGCAGTTACTATGTGGAGGTACCCAGTGTACCTGACATGGTGGTGCTGGGCCTTCCCTCACCATATGGCATTCTACTGTAATTTCTTCCAGGGCCCCTAACATCTCTCACCAAGCCCCCGCTCCAGGGAGAGGGGAGGGGCAGGGGCAGGGCGGGGAGGTCCCCACTCACCCTGGCACTCCCGTGTGTTCTGGTGGGCCAAAGTGCCCGGCGGGCAGGTGGGCAGACACTTCCCCTTGTACAAGTAAAACTGCCTCTTGCACCGGATGCAGAAGTCCTGGCTGAAGCAGCTCTCACAAGTGGCCCCACATTCTGTAATAGAGCCAGGGACACCCCAGGTGAGGGAGACTGCCAAGGATGGGGCCCACTGGGTCTGCCCGAGGTGGAAGGCCCTCTGGGTAGCTCCAGGCTTGGTAGCATTTGGGTCAGGACTCAGTGTCTCCTTTGAAGCCCAGACTTGGCCAAGGTCAAACTGGGCTGCATGTGAAGAGAACACTCCCTTTCTCATTTGAGGGGAGGCTCAGAGAGAGCGAGTGACTTGCTTGAAGTCACCCGCAAACCAGGGCTGGAGTGAGGACTCCCTGCTTCTTTTTCACCTCAGAAATAGTGATAATTTGCCCAAAGTTACAGCAAAAATTAGAGCTTGGAATTAGGACTCCTTTTCCTATTTGAGCTAAGACCAGAGAAGGTGAGTTACATGCCTAAGGCCACACCACAAACTAGGGTAGAAGTGAAAGTTGCCTGTTCTATTAGTGCTAATTAAGGCTGAGAGCGGACTGACTTGCCTCGGGCTGCGGAGTCAGCCTGGACACAGGCAGGTATCTCAGAGTCTGGGCTTAGACATGCACCTACTTCCCCTCTGTCTGTGCTGGGGTGAAAGGGTGGGATCTAAGCCCATGGTGTCTAGGAGCCCAGCACTAGCATAGAACAAGGGAGAAGCCACGTACTTTTGCACCTGTTGACCTCCTGGCCGCGGATGCCGAAGTACCCAGGGGGACAGTCGTGCAGGCACTTGCCGTACTGGCAGATGCCTTCCCGGCGGATGAACAGGAAGAGCCTCTGCTGGCAGGTGGAACAGCCGTTCTCCTCTGAGCAGATGATACAGCCTGTGCAGTTGCCCCCCAGGCCAGTGCCCACTGCCCACAAGACCAGGGCAGAAGGAGGGGGAAAGGGAGAGAGAGATGGTCAAACCATATATGCGAGCAGCTGAGATGGTCTCATTGGGATAGTAACTGGGCACATGGCCACCCAAACAAAAGACTACATTTCCCACCTTCCCTTACAACTAGATATGGTCATGTGACCAACATCTGGCCAATCAGATGTAAGGTAAAGCAGCATGTGACACTTCAAGAAAGCTGCCTTAAAGGGCAGGGGTGTGCCCCTTGTCGTCCCCTCATCCTTTCTGTTGGGTGGAATGTGAACGATGGCTGGAGCACAAGCAGCCATTTCAGATCATGAGGTGGAAACTATGTCCCGTGAGGCGGTGGAAAAATCAGATAAAAAGCACCTGGGTGCCTGAGGAAGGCAGAACTGCTGTACCAGCTCTAGCCTGCCTGTGTAGACTGTTACATGAGAGAGAAATCAACATCTATCTTGCTTAAATCACTGTTATTTGAAGTTTTCCATCACTCACAAGCAAACTTAATCTTTACCAAAGTAATGTGAATTTTTGAGTGTGTGTGGGTGCACATGATGAGTGGGGTGGGGTGAGACCCTCACCCTCCTGCTGGGTTCCTGAACAATACTCAGCAATACTCCATTTCTCACTGTCACCATCAGCAAGGGCTCCCACCATCATCAGGAATAGCAATGGGAGAAATTTTTTTAAGGAGAAAATTTTTTGTTACCCCAGAATTGGCACCCAGGAGCCAAAGCTGGGGAAAAAAGAGGTGGAAAATGCTCTAGAATCTTAAGTGAGCCTCTCCCAGGCTCATAAGGAGTCTCTGTTACCCTGACCATCACCCCAGGACCCTGATTAAGCTGAACACTTGCAGGGAGGGACTCATGGGAGTTAGGGATTGTCAGCCTGGCCAGGCACAGTGGCTCATGCCTGTCATCCCAGCATTTTGGGAGGCCAAGATGGGAGAATTGCTTGAGTCCAGGAGTTTGAGACCAGCCTGGACAATATGGCGAGGCCCTGTCTCTACAAAAAATACAAAAATTAGCCGGGTATGGTGGCACACACCTGTAGTCCCAGCTACTTGGGAGGCTAAGGTGGGAGGATCGCCTGAGCGGGGAAGGCTGCAGTGAGCTGTGTTTGTGCCACTGTACTCCAGTCGGAGAGACAGAGTGAAGCCATGTTTCCAATAAAGAAGAAAATAAAAAGAAGTGGACAGCCTAGGGAAGTGAGTTGTGGTGCTGTGACTTTTCCTCTGTTCCCAACCCTGCCAACGAAGTGAGGAGATGCCAGAGAAACTCACAAAGACAGGGGGTGCCTGCAAGAAGGTGCCAGCATCTCATGCCCTGCTTGGACATAAACTCATGTCCATAGCCCTGCGAATCTGCCCCCTTCCCATTCCTCTTTGAACAGAGAAAGGAGACCAGGAGACAGAAGGGCAGAGCTGAGGGGAAGAGTGTGATAGAAGAGCCTGCACATCCTTCCCGGCACGTGTGAGGGAGTTCTCAGTGGTAAGGGGCACCTTGGGAGCAGCCAGGCTTAGGTGGTATTCCTGCTGCCTGGCACAAGAAGGCTGGTTGCTGGGAGGTGCCCCAGCAGTAAGAGGCAGCAGGGGAGACCACTGGGAGTAGGAGGTGGGGGAGAGTCAGAAAATGACCAGGTGTCACTAAGTGACAGGAAAGGATAGGGCAGCTTTTGAGAGGCAGCAATTGGGGAAACAGTAAATGGTTTCATGTTTATATGTCATTAGGGTCAGACTGGTTAATAATCCGGTTATACACCTTGATTCACCTGAGCCCCAAGACCACCCGGCAGGAAACATTCTTGGCTCTCCAGCTCTCAGATGCTCCCCTCTTCCTATTGGTGCCCCATCTCCCTTTTAGAGGAATTCCCCATTGTGCAAGGTCCTGATGAAACACATCCTGGCACCTTCCCCCTGGAACAGAAACCAAA
Task1_train_27607
This variant affects gene PDYN-AS1, PDYN (PDYN antisense RNA 1| prodynorphin) located on Chromosome 20. Evaluate its biological effect and specify any disease association.
Pathogenic; Spinocerebellar ataxia type 23
TACTGTGTACCAGGATCTTTGCATATATGAGCTCCTCTAATCCTCACAGCAACTCTACAAAATTGGCACTATTAGTCTTTATTTTATGGAGGCAGGAACTAAGGCTGAGAGAAGCCAAATGGCTTACTCAAGGTCGCACAGATCCAATGTTCCAATTTAAAGCTGTGACACTTCACAGTTTTTGCTCTTTCTGTTATCCCACACTTGGTTTTCCAACCTGAATATGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTAACTCTTCTTTATTCCCTAGCACTCTTTTCTGCAAATTTTTTTTCTCTCTGAGGACTGAGGCTCACACACATGTGCACGTGCACGTACACACACACCCACCAAGTCATCAGCATCTTTCTTTTATTTATTGTACTGGAGGAGCAGGAAATTACACAAGCCTATTAAAGGCTAAGCAAATTCCAAGTAAATTGCATAAATGGGATTTTTTTAAAGGACACAAAATAACTCTAAAACAATCTATCCATTTCAGAACATCATCAGATACCTGGGGACTGCGCATGAAGAGATGTGCTCAGCAGCATCTTATACAAATTATCCAGACTCAAGCCTTTTCCTCTCCTATCCAGCCTCATCTCCTGGACCCACAAACCAAAAGAGAGTGCCTGGGAATGAGAGAGCAAAAGAGAGACAGACAGACAGGGAGGGCTTTGATGGAAACCAAGACATCAGGAGGTCTCTGCCTCTGATTCAGGGTTATTTGAATCAAGGGAACTCATTTGGCCTCAAGCACTTAATCATTTTATTCCTCTTTCTGGTTTTATTTTGAGACATTAAGAGGAAAGAAGCATTATGGGGATTGAAGAGGGCTTTTTCTCTTTCTAGCTGCTGCTTCTGGAGTCCCTTACCCAATGCCCAGTGCGTATGTTGGGCCAGATGGCTTGGACTCTTGGCAGCCAATTCAGCTGCTCAAGAACATGGTTGTGCTTAACTTCATCAGCTTGACTCTGCTTCAGTTCACCATGGAGTAGAAGCATGATACCCATCAGTTTAATTAGTTTAATGAGGGCTGAGGGAACTGGTCCACATTTTGAGTTTGTTGCACAGAACAAATTGGTTTGCCTTTCTCCCTCCTTGATCATTTAAGCATTCAAGAGGCTGCTCTCAATCATTTCCGAAAGAGGTTTTCACTCCCTTCTGTAAGGAGTTAGGCACTGTCCAGGGTACCAACATGACTGGGAGTTCAGGAAGTCAGTTCTTCAAGAGGTGCTTTTCTGAACAATGAGGACTCAGAGTACACTGACTAAACATTAAACCCACTAGAAGACTGGACCCTCTACTGTAAGGGTTCCTGATCCAATATAAGGCAATGTTTAAGCTTTTTACCTAAAGCATCGTCTCCAAAGTCAGGTGCACAGGAGATCTTTTGAGATTTGGGAATATAATGTTAGGATTTCTGTGTATGATTATTTACCTTCTTTTAAAGTTCTACTCTTTGTTTATGATGTGTATACTATCTGCATGAGGGAGCATGCTCATATTTCTTCTAAGAGGGGCATGTGATCTGTTAAGTTTGGACATCATAGACCTACAGGTACAAAGAACACATCGCTCTGGTTCCCTGGAATTGAGGAGTCACGTGAACAGGTTGGAAGGACAGATCACAAACTGCTGCTGCTGCTGCTGCTGCCGCTGCTGATAGTTTTAGAGTCTAGGTGTCTGAGCCAAGCACTAAGCCTATTGTGGGGAAGGGACATCCACCCTTCCCCATCACAGACCCCAGAGAAATAACATACTCCCACGCAGAAGAGAGATAGGCTGGGCTTGGATATTTTGTACACAATGCTGAGCTGAGCATGGGGAAGGGGCACATATAAGAGGATGAATGAATGCACTCCAACCTGAAAAGGTGTCAGGGGTTTCTCCTGACTCTACTCCATGAAAAGAGGTGCTTATGCATCAAAAAGCTCTCCAGAGTAAGCATTCGGATCTTCCTGAGACCGAGTCACCACCTTGAACTGGCGCCGGAGAAAACCGCCATAGCGCTTCTGGTTGTCCCACTTGAGCTTGGGACGAATGCGCCGCAAGAAGCCCCCATAGCGTTTGTACAGGTCCTCATGGCCCATGCTATCCCCGTCCCCCTCCCCAGCCACCTCTGAGCTCCTCTTGGGGTATTTGCGCAAAAAGCCCCCATAGCGTTTGACCTGCTCCTTGGGGTCCTCCTCAGCGAGATAGAGTGTGCCAGTCTCCATGGCACCATCGTTCAGCTGGGCATCCCTCATCAGCTCAGACTCTGCTCCCTCCCTAAACCCGTCAGAGAGACCCCTGAGCTTCTCCTCCAGGCTCTTGCTCAGAGTGTTCTCCTTTGTTGAGATACTTGGGAGAAACTTGCTTTTCTCCAGCTCCTTCAGGAATGACCCAGAGAGCTTGGCCAGCTCACTGTAGGGCCCTTCCCCAACCGACTTGCTCCCCAAGTCCTCCTTGTCATTGAGCCCAAGGGTGGAGGGGGTGAAAAAAGACAGAAAGCTCTGGCATCTCTCCCATTCCTCAGAGGGCAGCAGGGCAGCCTGGCATTGCAGGGAGCAAATCTGCAAAAGACCCAAAAAGACCACAGTGGCAAATGATCAAAACACATGCACTGGTCTGCCCCAGGCTCCCCTGTCCAGTGTCTGAGAAAACCAAAATGAACGCCACTGCTAAGCCCTGGGCTACCCATGTTCATACTACTGGTGGTGCATAAAGGTAGGGGACTTTGTGCCTGTGAGAAAGAGAAGACAGACCTGGAGAGGTGAAATGGCTTTAGACCCAGGACACATGGCTGCAGGTGGCAATTGCCAGAATTGGAAGTAAGATCTTCCCGTAGTGTTCTGCGTGCTCACCTTTCCCCCTCCACGTCTGACTCCCAGACAGGAAACCCCATCTCCACTAAAAATACAAATTCTCTCCCAGGCTTCTGCAGGTGTGAAGCACACTGCTAACTCTTGGTAAAGTGGGACAGAGAAGTGCAGCATGGCAGAGAACACACAGGAGAGGACACAGGAGGGTTCATCAGGCCTGGGGTGGGGGGCAATGGCATCACTTCATAGGGCCATTGGGAGCATTCAATCATAATGACGATGACAATAGCAAAGAATATGGAACTTGAACCCAGGCCGTCCAGTGCCATGAGTCTTCATGCTTAAACGTGGTGCTCTTTGAGATTGGGCACGGGCAGGACCTGGCCCATTGTGTGCATCTCTCAGTGGCTAGAATTATGTATTAAATAACTTCTTTTGTCAGGTGCAGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGACCAAAGCTGGCGGATCACTTGAAACCAGGAGTTTGAGACCAGCCGGGCAGACATGGCAAAACCCCATCTCTACTAAAAATACAAAAATTAGCTGGGTGTGGTGGTGTGCACCTGTAGTCTCAGCTACTCGGGAGGCTGATGTACAAGAATCACTTGAACCCAGGAGGCGGAAGTTGCAGTGAGCTGTGATAGTGCCACTGCACTCCAGCCTGGGCAACAGAGCAAGACTCTGTCTCAAACAAAAATAAATAAATAAATAAATAAATAAATAAATAATAACTTCTGGCATGGGCTTGATAGCCCATGCCTGTAATCCCAGCACTTTGGAAGGCCGAGGTGGGCAAATCACTTGAGGTCAAGAGTCTAACACCAGCCTGGCCAGCATGGTGAAACCCCGTCTCTACTAAAAATACAAAAATTAGCCGGGTGTGGTGGTGGGTGCCCATAGTCCCAGCCACTCGGGAGGCTGAGGCAGGAGAATCATTTGAACCCAGGAGGCAGAGGTCTCAGTGAGCCGACATCATGCCACTGCACTCAAGTCTGGGCTACTGAGTGAGACCCTGTCTCGGAAAAATAAATAAATAATTAAATAACTTCTTTCACTATCTCATGGAATCACCTCCATTTTGCAGATGAAGAAACCGAGGCTTAGAGAGGGAGTTCCAAGGTCATGGAGCTAGAAAGGGACAGAATCAAAGTCTGTGTTCTGTCCCTATGCCCTTGGTACTTCTATTCCAGCCTTTCTGCTGTCATGGGAGAGACATGTGGGGGAACTTAACTCAAAGGAAAGCCGACAAGGTAGG
TACTGTGTACCAGGATCTTTGCATATATGAGCTCCTCTAATCCTCACAGCAACTCTACAAAATTGGCACTATTAGTCTTTATTTTATGGAGGCAGGAACTAAGGCTGAGAGAAGCCAAATGGCTTACTCAAGGTCGCACAGATCCAATGTTCCAATTTAAAGCTGTGACACTTCACAGTTTTTGCTCTTTCTGTTATCCCACACTTGGTTTTCCAACCTGAATATGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTAACTCTTCTTTATTCCCTAGCACTCTTTTCTGCAAATTTTTTTTCTCTCTGAGGACTGAGGCTCACACACATGTGCACGTGCACGTACACACACACCCACCAAGTCATCAGCATCTTTCTTTTATTTATTGTACTGGAGGAGCAGGAAATTACACAAGCCTATTAAAGGCTAAGCAAATTCCAAGTAAATTGCATAAATGGGATTTTTTTAAAGGACACAAAATAACTCTAAAACAATCTATCCATTTCAGAACATCATCAGATACCTGGGGACTGCGCATGAAGAGATGTGCTCAGCAGCATCTTATACAAATTATCCAGACTCAAGCCTTTTCCTCTCCTATCCAGCCTCATCTCCTGGACCCACAAACCAAAAGAGAGTGCCTGGGAATGAGAGAGCAAAAGAGAGACAGACAGACAGGGAGGGCTTTGATGGAAACCAAGACATCAGGAGGTCTCTGCCTCTGATTCAGGGTTATTTGAATCAAGGGAACTCATTTGGCCTCAAGCACTTAATCATTTTATTCCTCTTTCTGGTTTTATTTTGAGACATTAAGAGGAAAGAAGCATTATGGGGATTGAAGAGGGCTTTTTCTCTTTCTAGCTGCTGCTTCTGGAGTCCCTTACCCAATGCCCAGTGCGTATGTTGGGCCAGATGGCTTGGACTCTTGGCAGCCAATTCAGCTGCTCAAGAACATGGTTGTGCTTAACTTCATCAGCTTGACTCTGCTTCAGTTCACCATGGAGTAGAAGCATGATACCCATCAGTTTAATTAGTTTAATGAGGGCTGAGGGAACTGGTCCACATTTTGAGTTTGTTGCACAGAACAAATTGGTTTGCCTTTCTCCCTCCTTGATCATTTAAGCATTCAAGAGGCTGCTCTCAATCATTTCCGAAAGAGGTTTTCACTCCCTTCTGTAAGGAGTTAGGCACTGTCCAGGGTACCAACATGACTGGGAGTTCAGGAAGTCAGTTCTTCAAGAGGTGCTTTTCTGAACAATGAGGACTCAGAGTACACTGACTAAACATTAAACCCACTAGAAGACTGGACCCTCTACTGTAAGGGTTCCTGATCCAATATAAGGCAATGTTTAAGCTTTTTACCTAAAGCATCGTCTCCAAAGTCAGGTGCACAGGAGATCTTTTGAGATTTGGGAATATAATGTTAGGATTTCTGTGTATGATTATTTACCTTCTTTTAAAGTTCTACTCTTTGTTTATGATGTGTATACTATCTGCATGAGGGAGCATGCTCATATTTCTTCTAAGAGGGGCATGTGATCTGTTAAGTTTGGACATCATAGACCTACAGGTACAAAGAACACATCGCTCTGGTTCCCTGGAATTGAGGAGTCACGTGAACAGGTTGGAAGGACAGATCACAAACTGCTGCTGCTGCTGCTGCTGCCGCTGCTGATAGTTTTAGAGTCTAGGTGTCTGAGCCAAGCACTAAGCCTATTGTGGGGAAGGGACATCCACCCTTCCCCATCACAGACCCCAGAGAAATAACATACTCCCACGCAGAAGAGAGATAGGCTGGGCTTGGATATTTTGTACACAATGCTGAGCTGAGCATGGGGAAGGGGCACATATAAGAGGATGAATGAATGCACTCCAACCTGAAAAGGTGTCAGGGGTTTCTCCTGACTCTACTCCATGAAAAGAGGTGCTTATGCATCAAAAAGCTCTCCAGAGTAAGCATTCGGATCTTCCTGAGACCGAGTCACCACCTTGAACTGGCGCCGGAGAAAACCGCCATAGCGCTTCTGGTTGTCCCACTTGAGCTTGGGACAAATGCGCCGCAAGAAGCCCCCATAGCGTTTGTACAGGTCCTCATGGCCCATGCTATCCCCGTCCCCCTCCCCAGCCACCTCTGAGCTCCTCTTGGGGTATTTGCGCAAAAAGCCCCCATAGCGTTTGACCTGCTCCTTGGGGTCCTCCTCAGCGAGATAGAGTGTGCCAGTCTCCATGGCACCATCGTTCAGCTGGGCATCCCTCATCAGCTCAGACTCTGCTCCCTCCCTAAACCCGTCAGAGAGACCCCTGAGCTTCTCCTCCAGGCTCTTGCTCAGAGTGTTCTCCTTTGTTGAGATACTTGGGAGAAACTTGCTTTTCTCCAGCTCCTTCAGGAATGACCCAGAGAGCTTGGCCAGCTCACTGTAGGGCCCTTCCCCAACCGACTTGCTCCCCAAGTCCTCCTTGTCATTGAGCCCAAGGGTGGAGGGGGTGAAAAAAGACAGAAAGCTCTGGCATCTCTCCCATTCCTCAGAGGGCAGCAGGGCAGCCTGGCATTGCAGGGAGCAAATCTGCAAAAGACCCAAAAAGACCACAGTGGCAAATGATCAAAACACATGCACTGGTCTGCCCCAGGCTCCCCTGTCCAGTGTCTGAGAAAACCAAAATGAACGCCACTGCTAAGCCCTGGGCTACCCATGTTCATACTACTGGTGGTGCATAAAGGTAGGGGACTTTGTGCCTGTGAGAAAGAGAAGACAGACCTGGAGAGGTGAAATGGCTTTAGACCCAGGACACATGGCTGCAGGTGGCAATTGCCAGAATTGGAAGTAAGATCTTCCCGTAGTGTTCTGCGTGCTCACCTTTCCCCCTCCACGTCTGACTCCCAGACAGGAAACCCCATCTCCACTAAAAATACAAATTCTCTCCCAGGCTTCTGCAGGTGTGAAGCACACTGCTAACTCTTGGTAAAGTGGGACAGAGAAGTGCAGCATGGCAGAGAACACACAGGAGAGGACACAGGAGGGTTCATCAGGCCTGGGGTGGGGGGCAATGGCATCACTTCATAGGGCCATTGGGAGCATTCAATCATAATGACGATGACAATAGCAAAGAATATGGAACTTGAACCCAGGCCGTCCAGTGCCATGAGTCTTCATGCTTAAACGTGGTGCTCTTTGAGATTGGGCACGGGCAGGACCTGGCCCATTGTGTGCATCTCTCAGTGGCTAGAATTATGTATTAAATAACTTCTTTTGTCAGGTGCAGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGACCAAAGCTGGCGGATCACTTGAAACCAGGAGTTTGAGACCAGCCGGGCAGACATGGCAAAACCCCATCTCTACTAAAAATACAAAAATTAGCTGGGTGTGGTGGTGTGCACCTGTAGTCTCAGCTACTCGGGAGGCTGATGTACAAGAATCACTTGAACCCAGGAGGCGGAAGTTGCAGTGAGCTGTGATAGTGCCACTGCACTCCAGCCTGGGCAACAGAGCAAGACTCTGTCTCAAACAAAAATAAATAAATAAATAAATAAATAAATAAATAATAACTTCTGGCATGGGCTTGATAGCCCATGCCTGTAATCCCAGCACTTTGGAAGGCCGAGGTGGGCAAATCACTTGAGGTCAAGAGTCTAACACCAGCCTGGCCAGCATGGTGAAACCCCGTCTCTACTAAAAATACAAAAATTAGCCGGGTGTGGTGGTGGGTGCCCATAGTCCCAGCCACTCGGGAGGCTGAGGCAGGAGAATCATTTGAACCCAGGAGGCAGAGGTCTCAGTGAGCCGACATCATGCCACTGCACTCAAGTCTGGGCTACTGAGTGAGACCCTGTCTCGGAAAAATAAATAAATAATTAAATAACTTCTTTCACTATCTCATGGAATCACCTCCATTTTGCAGATGAAGAAACCGAGGCTTAGAGAGGGAGTTCCAAGGTCATGGAGCTAGAAAGGGACAGAATCAAAGTCTGTGTTCTGTCCCTATGCCCTTGGTACTTCTATTCCAGCCTTTCTGCTGTCATGGGAGAGACATGTGGGGGAACTTAACTCAAAGGAAAGCCGACAAGGTAGG
Task1_train_27608
The gene PDYN, PDYN-AS1 (prodynorphin| PDYN antisense RNA 1) is located on Chromosome 20, where a mutation has occurred. What is the medical relevance of this mutation?
Pathogenic; Spinocerebellar ataxia type 23
CCAGGATCTTTGCATATATGAGCTCCTCTAATCCTCACAGCAACTCTACAAAATTGGCACTATTAGTCTTTATTTTATGGAGGCAGGAACTAAGGCTGAGAGAAGCCAAATGGCTTACTCAAGGTCGCACAGATCCAATGTTCCAATTTAAAGCTGTGACACTTCACAGTTTTTGCTCTTTCTGTTATCCCACACTTGGTTTTCCAACCTGAATATGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTAACTCTTCTTTATTCCCTAGCACTCTTTTCTGCAAATTTTTTTTCTCTCTGAGGACTGAGGCTCACACACATGTGCACGTGCACGTACACACACACCCACCAAGTCATCAGCATCTTTCTTTTATTTATTGTACTGGAGGAGCAGGAAATTACACAAGCCTATTAAAGGCTAAGCAAATTCCAAGTAAATTGCATAAATGGGATTTTTTTAAAGGACACAAAATAACTCTAAAACAATCTATCCATTTCAGAACATCATCAGATACCTGGGGACTGCGCATGAAGAGATGTGCTCAGCAGCATCTTATACAAATTATCCAGACTCAAGCCTTTTCCTCTCCTATCCAGCCTCATCTCCTGGACCCACAAACCAAAAGAGAGTGCCTGGGAATGAGAGAGCAAAAGAGAGACAGACAGACAGGGAGGGCTTTGATGGAAACCAAGACATCAGGAGGTCTCTGCCTCTGATTCAGGGTTATTTGAATCAAGGGAACTCATTTGGCCTCAAGCACTTAATCATTTTATTCCTCTTTCTGGTTTTATTTTGAGACATTAAGAGGAAAGAAGCATTATGGGGATTGAAGAGGGCTTTTTCTCTTTCTAGCTGCTGCTTCTGGAGTCCCTTACCCAATGCCCAGTGCGTATGTTGGGCCAGATGGCTTGGACTCTTGGCAGCCAATTCAGCTGCTCAAGAACATGGTTGTGCTTAACTTCATCAGCTTGACTCTGCTTCAGTTCACCATGGAGTAGAAGCATGATACCCATCAGTTTAATTAGTTTAATGAGGGCTGAGGGAACTGGTCCACATTTTGAGTTTGTTGCACAGAACAAATTGGTTTGCCTTTCTCCCTCCTTGATCATTTAAGCATTCAAGAGGCTGCTCTCAATCATTTCCGAAAGAGGTTTTCACTCCCTTCTGTAAGGAGTTAGGCACTGTCCAGGGTACCAACATGACTGGGAGTTCAGGAAGTCAGTTCTTCAAGAGGTGCTTTTCTGAACAATGAGGACTCAGAGTACACTGACTAAACATTAAACCCACTAGAAGACTGGACCCTCTACTGTAAGGGTTCCTGATCCAATATAAGGCAATGTTTAAGCTTTTTACCTAAAGCATCGTCTCCAAAGTCAGGTGCACAGGAGATCTTTTGAGATTTGGGAATATAATGTTAGGATTTCTGTGTATGATTATTTACCTTCTTTTAAAGTTCTACTCTTTGTTTATGATGTGTATACTATCTGCATGAGGGAGCATGCTCATATTTCTTCTAAGAGGGGCATGTGATCTGTTAAGTTTGGACATCATAGACCTACAGGTACAAAGAACACATCGCTCTGGTTCCCTGGAATTGAGGAGTCACGTGAACAGGTTGGAAGGACAGATCACAAACTGCTGCTGCTGCTGCTGCTGCCGCTGCTGATAGTTTTAGAGTCTAGGTGTCTGAGCCAAGCACTAAGCCTATTGTGGGGAAGGGACATCCACCCTTCCCCATCACAGACCCCAGAGAAATAACATACTCCCACGCAGAAGAGAGATAGGCTGGGCTTGGATATTTTGTACACAATGCTGAGCTGAGCATGGGGAAGGGGCACATATAAGAGGATGAATGAATGCACTCCAACCTGAAAAGGTGTCAGGGGTTTCTCCTGACTCTACTCCATGAAAAGAGGTGCTTATGCATCAAAAAGCTCTCCAGAGTAAGCATTCGGATCTTCCTGAGACCGAGTCACCACCTTGAACTGGCGCCGGAGAAAACCGCCATAGCGCTTCTGGTTGTCCCACTTGAGCTTGGGACGAATGCGCCGCAAGAAGCCCCCATAGCGTTTGTACAGGTCCTCATGGCCCATGCTATCCCCGTCCCCCTCCCCAGCCACCTCTGAGCTCCTCTTGGGGTATTTGCGCAAAAAGCCCCCATAGCGTTTGACCTGCTCCTTGGGGTCCTCCTCAGCGAGATAGAGTGTGCCAGTCTCCATGGCACCATCGTTCAGCTGGGCATCCCTCATCAGCTCAGACTCTGCTCCCTCCCTAAACCCGTCAGAGAGACCCCTGAGCTTCTCCTCCAGGCTCTTGCTCAGAGTGTTCTCCTTTGTTGAGATACTTGGGAGAAACTTGCTTTTCTCCAGCTCCTTCAGGAATGACCCAGAGAGCTTGGCCAGCTCACTGTAGGGCCCTTCCCCAACCGACTTGCTCCCCAAGTCCTCCTTGTCATTGAGCCCAAGGGTGGAGGGGGTGAAAAAAGACAGAAAGCTCTGGCATCTCTCCCATTCCTCAGAGGGCAGCAGGGCAGCCTGGCATTGCAGGGAGCAAATCTGCAAAAGACCCAAAAAGACCACAGTGGCAAATGATCAAAACACATGCACTGGTCTGCCCCAGGCTCCCCTGTCCAGTGTCTGAGAAAACCAAAATGAACGCCACTGCTAAGCCCTGGGCTACCCATGTTCATACTACTGGTGGTGCATAAAGGTAGGGGACTTTGTGCCTGTGAGAAAGAGAAGACAGACCTGGAGAGGTGAAATGGCTTTAGACCCAGGACACATGGCTGCAGGTGGCAATTGCCAGAATTGGAAGTAAGATCTTCCCGTAGTGTTCTGCGTGCTCACCTTTCCCCCTCCACGTCTGACTCCCAGACAGGAAACCCCATCTCCACTAAAAATACAAATTCTCTCCCAGGCTTCTGCAGGTGTGAAGCACACTGCTAACTCTTGGTAAAGTGGGACAGAGAAGTGCAGCATGGCAGAGAACACACAGGAGAGGACACAGGAGGGTTCATCAGGCCTGGGGTGGGGGGCAATGGCATCACTTCATAGGGCCATTGGGAGCATTCAATCATAATGACGATGACAATAGCAAAGAATATGGAACTTGAACCCAGGCCGTCCAGTGCCATGAGTCTTCATGCTTAAACGTGGTGCTCTTTGAGATTGGGCACGGGCAGGACCTGGCCCATTGTGTGCATCTCTCAGTGGCTAGAATTATGTATTAAATAACTTCTTTTGTCAGGTGCAGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGACCAAAGCTGGCGGATCACTTGAAACCAGGAGTTTGAGACCAGCCGGGCAGACATGGCAAAACCCCATCTCTACTAAAAATACAAAAATTAGCTGGGTGTGGTGGTGTGCACCTGTAGTCTCAGCTACTCGGGAGGCTGATGTACAAGAATCACTTGAACCCAGGAGGCGGAAGTTGCAGTGAGCTGTGATAGTGCCACTGCACTCCAGCCTGGGCAACAGAGCAAGACTCTGTCTCAAACAAAAATAAATAAATAAATAAATAAATAAATAAATAATAACTTCTGGCATGGGCTTGATAGCCCATGCCTGTAATCCCAGCACTTTGGAAGGCCGAGGTGGGCAAATCACTTGAGGTCAAGAGTCTAACACCAGCCTGGCCAGCATGGTGAAACCCCGTCTCTACTAAAAATACAAAAATTAGCCGGGTGTGGTGGTGGGTGCCCATAGTCCCAGCCACTCGGGAGGCTGAGGCAGGAGAATCATTTGAACCCAGGAGGCAGAGGTCTCAGTGAGCCGACATCATGCCACTGCACTCAAGTCTGGGCTACTGAGTGAGACCCTGTCTCGGAAAAATAAATAAATAATTAAATAACTTCTTTCACTATCTCATGGAATCACCTCCATTTTGCAGATGAAGAAACCGAGGCTTAGAGAGGGAGTTCCAAGGTCATGGAGCTAGAAAGGGACAGAATCAAAGTCTGTGTTCTGTCCCTATGCCCTTGGTACTTCTATTCCAGCCTTTCTGCTGTCATGGGAGAGACATGTGGGGGAACTTAACTCAAAGGAAAGCCGACAAGGTAGGGTCAAGAGG
CCAGGATCTTTGCATATATGAGCTCCTCTAATCCTCACAGCAACTCTACAAAATTGGCACTATTAGTCTTTATTTTATGGAGGCAGGAACTAAGGCTGAGAGAAGCCAAATGGCTTACTCAAGGTCGCACAGATCCAATGTTCCAATTTAAAGCTGTGACACTTCACAGTTTTTGCTCTTTCTGTTATCCCACACTTGGTTTTCCAACCTGAATATGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTAACTCTTCTTTATTCCCTAGCACTCTTTTCTGCAAATTTTTTTTCTCTCTGAGGACTGAGGCTCACACACATGTGCACGTGCACGTACACACACACCCACCAAGTCATCAGCATCTTTCTTTTATTTATTGTACTGGAGGAGCAGGAAATTACACAAGCCTATTAAAGGCTAAGCAAATTCCAAGTAAATTGCATAAATGGGATTTTTTTAAAGGACACAAAATAACTCTAAAACAATCTATCCATTTCAGAACATCATCAGATACCTGGGGACTGCGCATGAAGAGATGTGCTCAGCAGCATCTTATACAAATTATCCAGACTCAAGCCTTTTCCTCTCCTATCCAGCCTCATCTCCTGGACCCACAAACCAAAAGAGAGTGCCTGGGAATGAGAGAGCAAAAGAGAGACAGACAGACAGGGAGGGCTTTGATGGAAACCAAGACATCAGGAGGTCTCTGCCTCTGATTCAGGGTTATTTGAATCAAGGGAACTCATTTGGCCTCAAGCACTTAATCATTTTATTCCTCTTTCTGGTTTTATTTTGAGACATTAAGAGGAAAGAAGCATTATGGGGATTGAAGAGGGCTTTTTCTCTTTCTAGCTGCTGCTTCTGGAGTCCCTTACCCAATGCCCAGTGCGTATGTTGGGCCAGATGGCTTGGACTCTTGGCAGCCAATTCAGCTGCTCAAGAACATGGTTGTGCTTAACTTCATCAGCTTGACTCTGCTTCAGTTCACCATGGAGTAGAAGCATGATACCCATCAGTTTAATTAGTTTAATGAGGGCTGAGGGAACTGGTCCACATTTTGAGTTTGTTGCACAGAACAAATTGGTTTGCCTTTCTCCCTCCTTGATCATTTAAGCATTCAAGAGGCTGCTCTCAATCATTTCCGAAAGAGGTTTTCACTCCCTTCTGTAAGGAGTTAGGCACTGTCCAGGGTACCAACATGACTGGGAGTTCAGGAAGTCAGTTCTTCAAGAGGTGCTTTTCTGAACAATGAGGACTCAGAGTACACTGACTAAACATTAAACCCACTAGAAGACTGGACCCTCTACTGTAAGGGTTCCTGATCCAATATAAGGCAATGTTTAAGCTTTTTACCTAAAGCATCGTCTCCAAAGTCAGGTGCACAGGAGATCTTTTGAGATTTGGGAATATAATGTTAGGATTTCTGTGTATGATTATTTACCTTCTTTTAAAGTTCTACTCTTTGTTTATGATGTGTATACTATCTGCATGAGGGAGCATGCTCATATTTCTTCTAAGAGGGGCATGTGATCTGTTAAGTTTGGACATCATAGACCTACAGGTACAAAGAACACATCGCTCTGGTTCCCTGGAATTGAGGAGTCACGTGAACAGGTTGGAAGGACAGATCACAAACTGCTGCTGCTGCTGCTGCTGCCGCTGCTGATAGTTTTAGAGTCTAGGTGTCTGAGCCAAGCACTAAGCCTATTGTGGGGAAGGGACATCCACCCTTCCCCATCACAGACCCCAGAGAAATAACATACTCCCACGCAGAAGAGAGATAGGCTGGGCTTGGATATTTTGTACACAATGCTGAGCTGAGCATGGGGAAGGGGCACATATAAGAGGATGAATGAATGCACTCCAACCTGAAAAGGTGTCAGGGGTTTCTCCTGACTCTACTCCATGAAAAGAGGTGCTTATGCATCAAAAAGCTCTCCAGAGTAAGCATTCGGATCTTCCTGAGACCGAGTCACCACCTTGAACTGGCGCCGGAGAAAACCGCCATAGCGCTTCTGGTTGTCCCACTTGAGCTTGGGACGAATGCGCCACAAGAAGCCCCCATAGCGTTTGTACAGGTCCTCATGGCCCATGCTATCCCCGTCCCCCTCCCCAGCCACCTCTGAGCTCCTCTTGGGGTATTTGCGCAAAAAGCCCCCATAGCGTTTGACCTGCTCCTTGGGGTCCTCCTCAGCGAGATAGAGTGTGCCAGTCTCCATGGCACCATCGTTCAGCTGGGCATCCCTCATCAGCTCAGACTCTGCTCCCTCCCTAAACCCGTCAGAGAGACCCCTGAGCTTCTCCTCCAGGCTCTTGCTCAGAGTGTTCTCCTTTGTTGAGATACTTGGGAGAAACTTGCTTTTCTCCAGCTCCTTCAGGAATGACCCAGAGAGCTTGGCCAGCTCACTGTAGGGCCCTTCCCCAACCGACTTGCTCCCCAAGTCCTCCTTGTCATTGAGCCCAAGGGTGGAGGGGGTGAAAAAAGACAGAAAGCTCTGGCATCTCTCCCATTCCTCAGAGGGCAGCAGGGCAGCCTGGCATTGCAGGGAGCAAATCTGCAAAAGACCCAAAAAGACCACAGTGGCAAATGATCAAAACACATGCACTGGTCTGCCCCAGGCTCCCCTGTCCAGTGTCTGAGAAAACCAAAATGAACGCCACTGCTAAGCCCTGGGCTACCCATGTTCATACTACTGGTGGTGCATAAAGGTAGGGGACTTTGTGCCTGTGAGAAAGAGAAGACAGACCTGGAGAGGTGAAATGGCTTTAGACCCAGGACACATGGCTGCAGGTGGCAATTGCCAGAATTGGAAGTAAGATCTTCCCGTAGTGTTCTGCGTGCTCACCTTTCCCCCTCCACGTCTGACTCCCAGACAGGAAACCCCATCTCCACTAAAAATACAAATTCTCTCCCAGGCTTCTGCAGGTGTGAAGCACACTGCTAACTCTTGGTAAAGTGGGACAGAGAAGTGCAGCATGGCAGAGAACACACAGGAGAGGACACAGGAGGGTTCATCAGGCCTGGGGTGGGGGGCAATGGCATCACTTCATAGGGCCATTGGGAGCATTCAATCATAATGACGATGACAATAGCAAAGAATATGGAACTTGAACCCAGGCCGTCCAGTGCCATGAGTCTTCATGCTTAAACGTGGTGCTCTTTGAGATTGGGCACGGGCAGGACCTGGCCCATTGTGTGCATCTCTCAGTGGCTAGAATTATGTATTAAATAACTTCTTTTGTCAGGTGCAGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGACCAAAGCTGGCGGATCACTTGAAACCAGGAGTTTGAGACCAGCCGGGCAGACATGGCAAAACCCCATCTCTACTAAAAATACAAAAATTAGCTGGGTGTGGTGGTGTGCACCTGTAGTCTCAGCTACTCGGGAGGCTGATGTACAAGAATCACTTGAACCCAGGAGGCGGAAGTTGCAGTGAGCTGTGATAGTGCCACTGCACTCCAGCCTGGGCAACAGAGCAAGACTCTGTCTCAAACAAAAATAAATAAATAAATAAATAAATAAATAAATAATAACTTCTGGCATGGGCTTGATAGCCCATGCCTGTAATCCCAGCACTTTGGAAGGCCGAGGTGGGCAAATCACTTGAGGTCAAGAGTCTAACACCAGCCTGGCCAGCATGGTGAAACCCCGTCTCTACTAAAAATACAAAAATTAGCCGGGTGTGGTGGTGGGTGCCCATAGTCCCAGCCACTCGGGAGGCTGAGGCAGGAGAATCATTTGAACCCAGGAGGCAGAGGTCTCAGTGAGCCGACATCATGCCACTGCACTCAAGTCTGGGCTACTGAGTGAGACCCTGTCTCGGAAAAATAAATAAATAATTAAATAACTTCTTTCACTATCTCATGGAATCACCTCCATTTTGCAGATGAAGAAACCGAGGCTTAGAGAGGGAGTTCCAAGGTCATGGAGCTAGAAAGGGACAGAATCAAAGTCTGTGTTCTGTCCCTATGCCCTTGGTACTTCTATTCCAGCCTTTCTGCTGTCATGGGAGAGACATGTGGGGGAACTTAACTCAAAGGAAAGCCGACAAGGTAGGGTCAAGAGG
Task1_train_27609
This gene mutation involves TGM6 (transglutaminase 6) on Chromosome 20. Is it associated with any clinical condition, or is it benign?
Pathogenic; Spinocerebellar ataxia type 35
CTTTCTCTGTTCATTTAAAACTAGGGTTTTTTTTGCATTTTTGTGCTTTTTTTGTTGGTGATTTCTCTGTTTAAAATGGCCGCTGAGCATAGGACTGAAGTGCTGTCTCATGTTCCTAGGAGCAGGAAAGCTGCGACACGCCTTACACTAAAAATATGTGTTAGGTGAACATTCAGGCATGAACTATAGCGCTGCTGGCCACAAGTTCAATATTAATGAATCATCAATATATATTAAATTATGTTTGTTTGTTTTGAGAGGGAGAGTCTCGCTCTGTGGCCCAGGCTAGAGTGCAGTGGTGCAATCTGAGCTCACGGCAACTTCCACCTCCCGGGTTCAAGCGATTCTCCTGCTTGAGTGGCTGGGATTACAGGCACCCGCCACCACGCCTGGCTCATTTTTTGTATTATAGTAGAGATGAGGTTTCACCATGTTGGCCCCAGGGTGGTCTCGAGCTCCTGAGCTTAGGCAATCCGCCCACCTCGGCCTCCCAAAGTGCTAGGATTCCAGGCGCGAGCCACCACGCCCATCCTAATAATGTATCTTTAAACAGAAACGCACATATAATAAGGTTATATACTGATCAACTGATGAATAAGTTGGGACCAGAGGCTCACAGGAACCTAAACCTGTATTTATTTTCCCTAAGGGCAATGGGCCAGTTCTCATTAATTCAACCTTTGCAGTGATTTTACAGAACTTAATGACCAAGAGGCTGGGCAAGGTGCCTCACACCTGTAATCCCAGCACTGTGGGAGGCCAAGGCAGGCAGATCACCTGAGGTCAGGAGTTCGAGACCAGTTTGACCAACATGGCAAAACCCCATCTCTCCAAAAATATACAAAGAAATTACCCAGGTGTGGTGATGTGCACCTGCTAGTTCCAGCTACTCGGGAGGCTGAGGCACAAGAATTGCTTGAACCTGGGAGGCAGAGGTTGCGGTGAATTGAGATCACGCCACTGCACGCCAGCCTGGGTGATAGAGTGAGACCCTGTCTCAAAACAAACAAACAAACAAACAAACAGAGAATCGCCGGTATATGATAAATAGCAGCTGGATGAACAAATGACTGGCCGAGAATGAATGGGAGGACAAGCTCAGAGTGGGTGAGAAACAGGAGGCCGTGGCCTCATCTCCCTGTCCTCTCCCCACCCAGGGATCAGAGTCACCAAGGTGGACTGGCAGCGGTCGAGGAATGGCGCTGCCCACCACACCCAGGAGTACCCCTGCCCTGAGCTGGTGGTTCGCAGGGGCCAGTCGTTCAGCCTCACGCTGGAGCTGAGCAGAGCCCTGGACTGTGAGGAGATCCTCATCTTCACGATGGAGACAGGTAACTGGGCTTGCCAGCACCCTCTTCTCGTCTGCAGCTGGAGGGACCTGTCTTATGACTCAGTAACATAAGACCTTGCAGTCAGCAGCTCAGGCTCTGGGGGAAGCAAGTCACTGTAGGTAGACGGAGCCTTGAACCCTGGAGGCTTCTGGTGGCAGCTTTCTGGGGGTGGTTGGGAGGTGCTGCCAGCAGACAGTGGGATGGATGGGATGACCTCTCTGGAACCCTGTGTGTACCAGACACCCAGGGCTCTGGAAGGGTATGAAAACCCGTCAAGCACTTTGAAGCCCAAGCTTTTCTTTCCTTTCCTGGCCCGACATAGGCAGACTTTGGTTTCAAAGGATGCTGTCACTTTCTCCTTGGCCTGGAAGTGGCTGGGATGTCAGGGCAGCTGAGGTGGACCCTCACTTGGCCACTGGCCTTCTTGCTCTTTGTCAGGTCCTTCTCCCAAAGCCTCCCAGAAGTTCAGGGGGTGAAGGTGGGGCTTCCAGGCCTGTAGCTTTTTTCACTTCTCTAAAGCTGGGTTTCCCAGGGGAAGGGTCTCCTGATTCCCTCTCCTCTCCTCCAGGACCCCGGGCTTCTGAGGCCCTCCACACCAAAGCTGTGTTCCAGACATCGGAGCTGGAGCGGGGTGAGGGCTGGACAGCAGCAAGGGAGGCTCAGATGGAGAAAACTCTGACCGTCAGTCTCGCCAGCCCTCCCAGTGCTGTCATTGGCCGCTACCTGCTGAGCATCAGGCTTTCCTCTCACCGCAAACACAGCAACCGGAGGCTGGGCGAGTTTGTTCTCCTTTTCAACCCATGGTGTGCAGGTAGGAGTGGCCAAGTCCAATGCAGAGGTTTTTCCAAAAGACATCCTTAGAGGAGAGCCTGCCCTTGGAGGGGGCCTGGGAGGTGGGTTAAAGGACAAGAAGCTGAATGCCAAGAGCTGGGCAAGAACTTAGCCTAGGCAGAGGTAGGCAATGGTCAGAGAAACCTGGTAGCAGGTGCTTCAAAGCCTATGCCAGAGGACCCAGTGGGCAAGAGAGGCCCAGGGGTGGGTAAGAGCCAGGACTTGGGAATCAGACTGCCTTGGTTTAGTCCCAGCTGTGCTGAGCTGCTCTCCTCTACCAGTCTCCATTTCCTCATCTGTAATATGGGAAAAATAACAGTGCCTACCTCTTATGACTATGGTGAACACCCATAGGGCTAATACTTGTAATGTATGAGATACATCATAAGGCCTTAGTAAGGGGTGGCCAGGATCAGTATTATTATTAATATTTAAGAAATATGGCCGGGTGCAGTGGCTCACGCCTGTAACCCCAGCACTTTGGGATGCCAAGGCAGGGGGATCACCTGAGGTGGGGAGTTCAAGACCAGCCTGACCAACATGGAGAAATCCCGTCTCTACTAAAAATACAAAATTAGCCAGCTGTGGTGGCACACGCCTGTAATCCCAGCTACTCGGGAGGCTGAGGTAGGAGAATCACTTGAACCCAGGAGGTGGAGGTTGCAGTGAGCCAAGATTGCGCCATTGTACTCCAGCCTGGGCAACAAGAGCAAAACTCTATCTCAAAAAAAAAAAAAAAGAAAAGAAAATAAGAAAAAAAGAAGGAAATATGAGAAATATGAGGCTACTACTGACATCAAGGAGGCCCACCCAAAGCTGTCAGTTCCCATAAAACTCTTTTGGGATTGGTCCCTGCTTGGTTAAAGACTTGCCAGGAGGGATGGAGTTTGGCAGGGAGGCAGCACGGGAGCTCGCAAGCCCCCTCTTGACCTCTCCTGCCCCAGTCAGCCTCCGGGCGCTGCCCTGCTGCTGATCCCTGATGCAGCCCCTTCCCCAGGCCAGCAAGGCCAGAGCCCCAGTCCACACCGGGCCTGATGACTGCTTTTCAGAGGACGATGTGTTTCTGGCCTCAGAGGAGGAGAGACAGGAGTACGTGCTCAGCGACAGCGGCATCATCTTCCGAGGCGTGGAGAAGCACATACGAGCCCAGGGCTGGAACTACGGGCAGGTCTCCAGGGGCACAGGCCAGACAAGGATGTGGGCTGGGGCATGGGGAGGTCGGTGGGACTGGAGTCCCTCTGTCTGCTCACTCTTCTCAGGAGGGACAAGGGGGGCTCACTCCTAGAGAAAACCCACTCATTCATTCATTCATCTACTATTCACTGGGCCAGGGCCTGCACTGGGTCCTGGGGAAGGGGAGGTGCTTTGGACAAGGTTTGGACACAGAACAGGTCAGTATGGTTGTGGAAAAATGAATAGCTCTGATCAGTGGTTTTCAAACACGAGCGTACATCAGAATCCCAGGAGGGATGGCGTGCTGGACCCCACCCCCAGAGCTGCCGACTGAGTAGGTCTTGGGCAGGGCCTGAGAATGTGCGTTTCTAACCAGTTCCCAGGTGATGCTGATGCTGCTGGCCTAAGACCACACTTTAACAGCCACTGGCTTAGATAAGTAGTTCCAATACCAGGTGCAATAGGGGAAGGAAAAAGTCAGAATGATAGGGATGGAAGCAAAGGGAGTCCAGAAGAGGGTGAAAGGAACCTCCACTTCGGCCATTGTGGAGGCTTACGTGATATTGTAGTTGGGTCTCTACAGTGAGGCAGGATCTGCCCAGGCAGAGGGAAGAGCAGGCAGAGCCGCACGGACGTGGGAAGTAGGGAGTCTTGAGTCTGCTAGAGGAATTCTGTCTGCCTGAGCTCCAGGTCCCCGGTGGAAGAAAGACTGGACTTGACTGTCAGGCTGAGGAGTCACGCACTGCCCTGCAGGCCAGGGG
CTTTCTCTGTTCATTTAAAACTAGGGTTTTTTTTGCATTTTTGTGCTTTTTTTGTTGGTGATTTCTCTGTTTAAAATGGCCGCTGAGCATAGGACTGAAGTGCTGTCTCATGTTCCTAGGAGCAGGAAAGCTGCGACACGCCTTACACTAAAAATATGTGTTAGGTGAACATTCAGGCATGAACTATAGCGCTGCTGGCCACAAGTTCAATATTAATGAATCATCAATATATATTAAATTATGTTTGTTTGTTTTGAGAGGGAGAGTCTCGCTCTGTGGCCCAGGCTAGAGTGCAGTGGTGCAATCTGAGCTCACGGCAACTTCCACCTCCCGGGTTCAAGCGATTCTCCTGCTTGAGTGGCTGGGATTACAGGCACCCGCCACCACGCCTGGCTCATTTTTTGTATTATAGTAGAGATGAGGTTTCACCATGTTGGCCCCAGGGTGGTCTCGAGCTCCTGAGCTTAGGCAATCCGCCCACCTCGGCCTCCCAAAGTGCTAGGATTCCAGGCGCGAGCCACCACGCCCATCCTAATAATGTATCTTTAAACAGAAACGCACATATAATAAGGTTATATACTGATCAACTGATGAATAAGTTGGGACCAGAGGCTCACAGGAACCTAAACCTGTATTTATTTTCCCTAAGGGCAATGGGCCAGTTCTCATTAATTCAACCTTTGCAGTGATTTTACAGAACTTAATGACCAAGAGGCTGGGCAAGGTGCCTCACACCTGTAATCCCAGCACTGTGGGAGGCCAAGGCAGGCAGATCACCTGAGGTCAGGAGTTCGAGACCAGTTTGACCAACATGGCAAAACCCCATCTCTCCAAAAATATACAAAGAAATTACCCAGGTGTGGTGATGTGCACCTGCTAGTTCCAGCTACTCGGGAGGCTGAGGCACAAGAATTGCTTGAACCTGGGAGGCAGAGGTTGCGGTGAATTGAGATCACGCCACTGCACGCCAGCCTGGGTGATAGAGTGAGACCCTGTCTCAAAACAAACAAACAAACAAACAAACAGAGAATCGCCGGTATATGATAAATAGCAGCTGGATGAACAAATGACTGGCCGAGAATGAATGGGAGGACAAGCTCAGAGTGGGTGAGAAACAGGAGGCCGTGGCCTCATCTCCCTGTCCTCTCCCCACCCAGGGATCAGAGTCACCAAGGTGGACTGGCAGCGGTCGAGGAATGGCGCTGCCCACCACACCCAGGAGTACCCCTGCCCTGAGCTGGTGGTTCGCAGGGGCCAGTCGTTCAGCCTCACGCTGGAGCTGAGCAGAGCCCTGGACTGTGAGGAGATCCTCATCTTCACGATGGAGACAGGTAACTGGGCTTGCCAGCACCCTCTTCTCGTCTGCAGCTGGAGGGACCTGTCTTATGACTCAGTAACATAAGACCTTGCAGTCAGCAGCTCAGGCTCTGGGGGAAGCAAGTCACTGTAGGTAGACGGAGCCTTGAACCCTGGAGGCTTCTGGTGGCAGCTTTCTGGGGGTGGTTGGGAGGTGCTGCCAGCAGACAGTGGGATGGATGGGATGACCTCTCTGGAACCCTGTGTGTACCAGACACCCAGGGCTCTGGAAGGGTATGAAAACCCGTCAAGCACTTTGAAGCCCAAGCTTTTCTTTCCTTTCCTGGCCCGACATAGGCAGACTTTGGTTTCAAAGGATGCTGTCACTTTCTCCTTGGCCTGGAAGTGGCTGGGATGTCAGGGCAGCTGAGGTGGACCCTCACTTGGCCACTGGCCTTCTTGCTCTTTGTCAGGTCCTTCTCCCAAAGCCTCCCAGAAGTTCAGGGGGTGAAGGTGGGGCTTCCAGGCCTGTAGCTTTTTTCACTTCTCTAAAGCTGGGTTTCCCAGGGGAAGGGTCTCCTGATTCCCTCTCCTCTCCTCCAGGACCCCGGGCTTCTGAGGCCCTCCACACCAAAGCTGTGTTCCAGACATCGGAGCTGGAGCGGGGTGAGGGCTGGACAGCAGCAAGGGAGGCTCAGATGGAGAAAACTCTGACCGTCAGTCTCGCCAGCCCTCCCAGTGCTGTCATTGGCTGCTACCTGCTGAGCATCAGGCTTTCCTCTCACCGCAAACACAGCAACCGGAGGCTGGGCGAGTTTGTTCTCCTTTTCAACCCATGGTGTGCAGGTAGGAGTGGCCAAGTCCAATGCAGAGGTTTTTCCAAAAGACATCCTTAGAGGAGAGCCTGCCCTTGGAGGGGGCCTGGGAGGTGGGTTAAAGGACAAGAAGCTGAATGCCAAGAGCTGGGCAAGAACTTAGCCTAGGCAGAGGTAGGCAATGGTCAGAGAAACCTGGTAGCAGGTGCTTCAAAGCCTATGCCAGAGGACCCAGTGGGCAAGAGAGGCCCAGGGGTGGGTAAGAGCCAGGACTTGGGAATCAGACTGCCTTGGTTTAGTCCCAGCTGTGCTGAGCTGCTCTCCTCTACCAGTCTCCATTTCCTCATCTGTAATATGGGAAAAATAACAGTGCCTACCTCTTATGACTATGGTGAACACCCATAGGGCTAATACTTGTAATGTATGAGATACATCATAAGGCCTTAGTAAGGGGTGGCCAGGATCAGTATTATTATTAATATTTAAGAAATATGGCCGGGTGCAGTGGCTCACGCCTGTAACCCCAGCACTTTGGGATGCCAAGGCAGGGGGATCACCTGAGGTGGGGAGTTCAAGACCAGCCTGACCAACATGGAGAAATCCCGTCTCTACTAAAAATACAAAATTAGCCAGCTGTGGTGGCACACGCCTGTAATCCCAGCTACTCGGGAGGCTGAGGTAGGAGAATCACTTGAACCCAGGAGGTGGAGGTTGCAGTGAGCCAAGATTGCGCCATTGTACTCCAGCCTGGGCAACAAGAGCAAAACTCTATCTCAAAAAAAAAAAAAAAGAAAAGAAAATAAGAAAAAAAGAAGGAAATATGAGAAATATGAGGCTACTACTGACATCAAGGAGGCCCACCCAAAGCTGTCAGTTCCCATAAAACTCTTTTGGGATTGGTCCCTGCTTGGTTAAAGACTTGCCAGGAGGGATGGAGTTTGGCAGGGAGGCAGCACGGGAGCTCGCAAGCCCCCTCTTGACCTCTCCTGCCCCAGTCAGCCTCCGGGCGCTGCCCTGCTGCTGATCCCTGATGCAGCCCCTTCCCCAGGCCAGCAAGGCCAGAGCCCCAGTCCACACCGGGCCTGATGACTGCTTTTCAGAGGACGATGTGTTTCTGGCCTCAGAGGAGGAGAGACAGGAGTACGTGCTCAGCGACAGCGGCATCATCTTCCGAGGCGTGGAGAAGCACATACGAGCCCAGGGCTGGAACTACGGGCAGGTCTCCAGGGGCACAGGCCAGACAAGGATGTGGGCTGGGGCATGGGGAGGTCGGTGGGACTGGAGTCCCTCTGTCTGCTCACTCTTCTCAGGAGGGACAAGGGGGGCTCACTCCTAGAGAAAACCCACTCATTCATTCATTCATCTACTATTCACTGGGCCAGGGCCTGCACTGGGTCCTGGGGAAGGGGAGGTGCTTTGGACAAGGTTTGGACACAGAACAGGTCAGTATGGTTGTGGAAAAATGAATAGCTCTGATCAGTGGTTTTCAAACACGAGCGTACATCAGAATCCCAGGAGGGATGGCGTGCTGGACCCCACCCCCAGAGCTGCCGACTGAGTAGGTCTTGGGCAGGGCCTGAGAATGTGCGTTTCTAACCAGTTCCCAGGTGATGCTGATGCTGCTGGCCTAAGACCACACTTTAACAGCCACTGGCTTAGATAAGTAGTTCCAATACCAGGTGCAATAGGGGAAGGAAAAAGTCAGAATGATAGGGATGGAAGCAAAGGGAGTCCAGAAGAGGGTGAAAGGAACCTCCACTTCGGCCATTGTGGAGGCTTACGTGATATTGTAGTTGGGTCTCTACAGTGAGGCAGGATCTGCCCAGGCAGAGGGAAGAGCAGGCAGAGCCGCACGGACGTGGGAAGTAGGGAGTCTTGAGTCTGCTAGAGGAATTCTGTCTGCCTGAGCTCCAGGTCCCCGGTGGAAGAAAGACTGGACTTGACTGTCAGGCTGAGGAGTCACGCACTGCCCTGCAGGCCAGGGG
Task1_train_27610
The following genetic variant occurs in IDH3B (isocitrate dehydrogenase (NAD(+)) 3 non-catalytic subunit beta) on Chromosome 20. Classify its clinical effect — pathogenic or benign — and list any associated condition.
Pathogenic; not provided
GGGGAGGGAGAAAAGAGAGCCCATGAAGGGAGGTAGGGCAATGTGATTGAGGAAATGGAAGCCAAGAATGCGTGACAGCCAGAAAAAAGGCAATGCACAGGAATGGAAGGAGGAGCCAGGATGGGAAGCACATGGACCTGCCACTCCTCTTAAGCCACTATTAGCTGTGCTGCAGCCAGGGCAGGACAGGAGGCTGAGCAGGCAAAGATGATGGGAAACGCAGATCAGAGGCAGGATGTGGCTACCTTCCTTGGAAGAAATAGAGACAAGACCAGGTGGAAGGAAAGAATCACAGCGAAAAGGAGATGGGGCGTGAAGGTGAAGCTGATGCTTCAGCCTGCCTGTATCCCTTGCTGTTCCACCCCCAAGGAGAGCTGCAAGTTCTGCATTCAGATGGCCCATGAAAAGGGCAGTGGATGGAGCAGGAAAGAGGGAACAGCAGATGGGATCTAAGAGGCAAAAGAGATCAAGAGGATGAAACAGCCAAGAGAAGGGAGATGAAGAACAGCCCTGAGAGGGATGCAGGGATGTCAGGGAGCAGATGTTCTGGGGACCTGGGGGGAAAGGAGACCCCCATTCAGGTTCCCCAGAGGGTAGTGCCGAGGTGCTGACACCAGAACTACTCTAAATCCTGAAGCCAGCACTACTCTTCTCAACTCACCTTGCCAACTTTGATCACCTTCTTCACCGCATCTGCGATCATGCTGGAGTGATACTCAAGACTGTGGATATGGACAGGAAGAAACTGTGACTCCCCCAAGACACCTCCCGCTAATTTCCCCACCTGCTCCTCCTCACGACACCCAACCTCTGCCGACAGCCTCCCATGACCTACTTAAGATGCCGCAGCATGTTGGAAGCCGACAGCAGCATGGCCGTGGGATTGGCTATATTCCTGCCCACTGCCTGGGCAAATGGGTGCCGGGCACCCTGTGGAGAGAGGGGCAGGCTAGACACTGGGAGGAGGCAGGAGGGGTATGCAGAGGCTTAGGTTGGAAAAGGACATTATGGGAGGGGGAGCTCAGGCCAGGGTCACTGAAAAGAGGCATGGTGGGCAGCGTGGGGGAAGAACAGGCCAAGATCACTTAGGAAGTGGAGATATTGGGATGGGAGAGGAATGGCGGACTTGAGGTCAGAGGAAGGGCCGAGGGAGAAAGCAGCCTCACCGTCTCAAAGACTGCGTATTCTGCACTATAGCTCTCACCAGGGACCACACCAGCTCCCCCAACCAGGCCAGCAGCCAGATTGTCAATAATGTTCCCATAGAGATTGGGCATCACAAGCACATCAAACTGGTAAGGATTCTGCACCAGCTAGAGGGTGAGATGCAGGCATGAAGTAAATTCCACTCCCCACCCTCCTCCTCCGCCCCATGAGTAGAGATGTGGGGAGGCCTCACCTGCATGCAGCAGTTGTCTATGATCATTGTCTCAAATTTGATTTTGGGGTACAGTTCAGCAACTTCCTCACAGCACTGCAGGAACAACCCATCCCCAAGTTTCCTGTCCATGGGCCAAAGGGGACAGAATCAGCCAAGAAAGTACAGGGGCTACCTTCCCAGGAACCCATCCTACACAAAGCCATGCCCCTCACATGATGTTGGCCTTGTGGACAGCAGTGACCTTGCCCCGCCCCTTCTTGGTGGCATAGTCAAAGGCGAACTTTGCAATCCGCTGAGACTTGGCTCGTGTGACAATCTTCAAACACTCAATCACACCCCTTGCACTCTGGGTAAGAAGAAAGCAGCAGCTAGGTGACACTGGGAAGGGAAACAAGGAGCTCCACCTCTCTCCCATCTTCATCCTTGCCCTCCCCCAGTTTCTGGGGCCTCACCTCATGTTCCAGAGAGCTGTACTCCCCTTCTGTCTGCTCTCGAATGATCACCAGGTCTAGATTGTTGTGCCGAGTCATATACCCAGGAAGTGACTTCACATGGACTACGTTGGCAAATAAGTCCAACTTACGCCTGAGGGTGGGCAGGGCCATCAGCTCTGCTCCTGGTGCCCTGGCACCTCTCAACCATTCACCCCACCCAGACCACCTACCTCAGCCGCATATCATAGGAGGCTAGCTCCCCCTTATACTCCATCGGGGTATGAATCTTTCCTGTGAAAACAAAGTGGGAAAAGGAGTGTCAGCCACAGGCCAAGCCCAAGGGAACTCAGACCAGTGTCTAACCCCCTTAGGAACATCATGTAACCCAGACTCCCATCTCCCATTCCCACATCAGTAAACTTTTAAATTGTCTCTGGGGGCAAGGGACAAAAGAGAATAATGTAGTTAAAGCCAGAAACATTTCATCTATTGCATTTTCTGTGTGTGTGTGTGTGTGTGTGTGTGCGTGTGTGAGAGACACAGGGTCTCACTCTGTCGCCCAGGCTGGAGTGCAGTGGCACGACCTGGGCTCACTGCAACCTCTGCCTCCCAGGTTCAAGCAATTCTCCTGCCTCAGCCTCCCCAGTAGCTGGGATTACAGGCATGTGCCACCACACCTGGCTAATTTTTTGTATTTTTAGTAGAGGCAGTGTCTCACCATGTTGGCCAGGCTGGTCTCAAACTCCTGACCTCAAGTGATCCACCCGCCCCGGCCTTAATGCTTTATTTTTAGTCAACATATTTAATTTATGTTGAAACTTCAAAACGGAGAACAGATTTTTTCTATTTATCAAAAAAGAGCCTGGGTTTAACAACAAGTTGAAAAACAATGCTAGCAGATCTGTGATCTTTTTATCTGTGCCTTCTCCTTATTTGACATTTTTTAACCCAACACCTACTGATGAATATCAATTATATGTCAGGCAATAAGGATAACAACTAAAACCATACAACTCCTGCCCTTGAGAAGCAAACGGTACACTGGGAAAGACAGAAAATATGAAAGACATGATAAGTACCATGGGAAACTTGCATAGCAACACAAAGAGGAAATCCTCTCCAGTAATATCAGGATACAGCACAGAAGAGCTGGCACTTCAGCCATGCCTTGAGCCCCAGAACCTATGTATGTGACCTTATTTGGGAAAAGAGGCTTTGCAGATGTAATTAAGTTAAGGATCTTGAGAAAAAATCGTCCCATCCAGGGCTAAATATTTGAGGAGAAAAATGATACCGAGACAGAGAGGGAAGAAAACCACAGATATTGGAGTGATGCATCTACAAGTCAAAAAACAGCAAGAGCCACCAGAAGAGGCAAGAAAGGTTTCTCCCCTAAACCTTCAGAGGGAGCAGGGCCCTGCCAACACCTTAATTTCAGACTGATGGCCTCCAGCACTGTGAGAGAATACATTTCTGTTAATGATAAGCCACCAGGTTCATGGTAGTGTGTTACGGCAGCTATGGGAAACTAATACAGTGAATGAGTGAGAAGGACTCTAACAGGTAGCACCAAAGAAAGAACGTTCTGGGTGGAGGGAACAATATAAGTCAGGTAGTACATATTTGGAATCTAACACACAATCTAGTGTGATTGAAGCACAGAACAAGAGTTGTGGAACCAAGGCAGAAAATTAAGGGCCAACTTATAAAGTACTGACTTTCCTATGGTAAGGCTGGGCCTGGAAAATCAGGCTGTTCTTTCCAAGAAGAGATATGGAAGATGAACTATAGGGGCAGAACTAGAAGCCAAAAAAATCAAATGAGGAGATTAAAGCGCGGAAGACAAAAGAAAAGGGGCAGCTAGGCACGGTGGCTCACGCCTATAATCGCAGCAGTTTGGGATGCAGAGGTGGGTGGATCACTTGAGGTCAAGAGTTCGAGACCAGCCTGGCCAACATGGTAAAACCCTCTCTCTACTAAAAATACAAAAATTAGCCTGGGCATGGTGGCTCACACTTGTAATCCCAGCACTGTGGGAGGCCAAGGCGGGCAGATCACAAGGTCAGGAGTTCGAGACCAGCCTGACCAACATGGTGAAACCCCATCTCTACTAAAAATACAAAAATTAGCCAGGCATGGTGGCACGCTCCTGTAATACCAGCCAGCTACTCAGGAGGCTGAGGCAGGAGAATCACTTGAACCCGGGAGGCAGAGGTTGCAGTGAGCTGAGATGGCAACATTGCACTCCAGCCTGGGCGACAGAGCGAGACTCTGTCTTAAA
GGGGAGGGAGAAAAGAGAGCCCATGAAGGGAGGTAGGGCAATGTGATTGAGGAAATGGAAGCCAAGAATGCGTGACAGCCAGAAAAAAGGCAATGCACAGGAATGGAAGGAGGAGCCAGGATGGGAAGCACATGGACCTGCCACTCCTCTTAAGCCACTATTAGCTGTGCTGCAGCCAGGGCAGGACAGGAGGCTGAGCAGGCAAAGATGATGGGAAACGCAGATCAGAGGCAGGATGTGGCTACCTTCCTTGGAAGAAATAGAGACAAGACCAGGTGGAAGGAAAGAATCACAGCGAAAAGGAGATGGGGCGTGAAGGTGAAGCTGATGCTTCAGCCTGCCTGTATCCCTTGCTGTTCCACCCCCAAGGAGAGCTGCAAGTTCTGCATTCAGATGGCCCATGAAAAGGGCAGTGGATGGAGCAGGAAAGAGGGAACAGCAGATGGGATCTAAGAGGCAAAAGAGATCAAGAGGATGAAACAGCCAAGAGAAGGGAGATGAAGAACAGCCCTGAGAGGGATGCAGGGATGTCAGGGAGCAGATGTTCTGGGGACCTGGGGGGAAAGGAGACCCCCATTCAGGTTCCCCAGAGGGTAGTGCCGAGGTGCTGACACCAGAACTACTCTAAATCCTGAAGCCAGCACTACTCTTCTCAACTCACCTTGCCAACTTTGATCACCTTCTTCACCGCATCTGCGATCATGCTGGAGTGATACTCAAGACTGTGGATATGGACAGGAAGAAACTGTGACTCCCCCAAGACACCTCCCGCTAATTTCCCCACCTGCTCCTCCTCACGACACCCAACCTCTGCCGACAGCCTCCCATGACCTACTTAAGATGCCGCAGCATGTTGGAAGCCGACAGCAGCATGGCCGTGGGATTGGCTATATTCCTGCCCACTGCCTGGGCAAATGGGTGCCGGGCACCCTGTGGAGAGAGGGGCAGGCTAGACACTGGGAGGAGGCAGGAGGGGTATGCAGAGGCTTAGGTTGGAAAAGGACATTATGGGAGGGGGAGCTCAGGCCAGGGTCACTGAAAAGAGGCATGGTGGGCAGCGTGGGGGAAGAACAGGCCAAGATCACTTAGGAAGTGGAGATATTGGGATGGGAGAGGAATGGCGGACTTGAGGTCAGAGGAAGGGCCGAGGGAGAAAGCAGCCTCACCGTCTCAAAGACTGCGTATTCTGCACTATAGCTCTCACCAGGGACCACACCAGCTCCCCCAACCAGGCCAGCAGCCAGATTGTCAATAATGTTCCCATAGAGATTGGGCATCACAAGCACATCAAACTGGTAAGGATTCTGCACCAGCTAGAGGGTGAGATGCAGGCATGAAGTAAATTCCACTCCCCACCCTCCTCCTCCGCCCCATGAGTAGAGATGTGGGGAGGCCTCACCTGCATGCAGCAGTTGTCTATGATCATTGTCTCAAATTTGATTTTGGGGTACAGTTCAGCAACTTCCTCACAGCACTGCAGGAACAACCCATCCCCAAGTTTCCTGTCCATGGGCCAAAGGGGACAGAATCAGCCAAGAAAGTACAGGGGCTACCTTCCCAGGAACCCATCCTACACAAAGCCATGCCCCTCACATGATGTTGGCCTTGTGGACAGCAGTGACCTTGCCCCGCCCCTTCTTGGTGGCATAGTCAAAGGCGAACTTTGCAATCCGCTGAGACTTGGCTCGTGTGACAATCTTCAAACACTCAATCACACCCCTTGCACTCTGGGTAAGAAGAAAGCAGCAGCTAGGTGACACTGGGAAGGGAAACAAGGAGCTCCACCTCTCTCCCATCTTCATCCTTGCCCTCCCCCAGTTTCTGGGGCCTCACCTCATGTTCCAGAGAGCTGTACTCCCCTTCTGTCTGCTCTCGAATGATCACCAGGTCTAGATTGTTGTGCCGAGTCATATACCCAGGAAGTGACTTCACATGGACTACGTTGGCAAATAAGTCCAACTTACGCCTGAGGGTGGGCAGGGCCATCAGCTCTGCTCCTGGTGCCCTGGCACCTCTCAACCATTCACCCCACCCAGACCACCTACCTCGGCCGCATATCATAGGAGGCTAGCTCCCCCTTATACTCCATCGGGGTATGAATCTTTCCTGTGAAAACAAAGTGGGAAAAGGAGTGTCAGCCACAGGCCAAGCCCAAGGGAACTCAGACCAGTGTCTAACCCCCTTAGGAACATCATGTAACCCAGACTCCCATCTCCCATTCCCACATCAGTAAACTTTTAAATTGTCTCTGGGGGCAAGGGACAAAAGAGAATAATGTAGTTAAAGCCAGAAACATTTCATCTATTGCATTTTCTGTGTGTGTGTGTGTGTGTGTGTGTGCGTGTGTGAGAGACACAGGGTCTCACTCTGTCGCCCAGGCTGGAGTGCAGTGGCACGACCTGGGCTCACTGCAACCTCTGCCTCCCAGGTTCAAGCAATTCTCCTGCCTCAGCCTCCCCAGTAGCTGGGATTACAGGCATGTGCCACCACACCTGGCTAATTTTTTGTATTTTTAGTAGAGGCAGTGTCTCACCATGTTGGCCAGGCTGGTCTCAAACTCCTGACCTCAAGTGATCCACCCGCCCCGGCCTTAATGCTTTATTTTTAGTCAACATATTTAATTTATGTTGAAACTTCAAAACGGAGAACAGATTTTTTCTATTTATCAAAAAAGAGCCTGGGTTTAACAACAAGTTGAAAAACAATGCTAGCAGATCTGTGATCTTTTTATCTGTGCCTTCTCCTTATTTGACATTTTTTAACCCAACACCTACTGATGAATATCAATTATATGTCAGGCAATAAGGATAACAACTAAAACCATACAACTCCTGCCCTTGAGAAGCAAACGGTACACTGGGAAAGACAGAAAATATGAAAGACATGATAAGTACCATGGGAAACTTGCATAGCAACACAAAGAGGAAATCCTCTCCAGTAATATCAGGATACAGCACAGAAGAGCTGGCACTTCAGCCATGCCTTGAGCCCCAGAACCTATGTATGTGACCTTATTTGGGAAAAGAGGCTTTGCAGATGTAATTAAGTTAAGGATCTTGAGAAAAAATCGTCCCATCCAGGGCTAAATATTTGAGGAGAAAAATGATACCGAGACAGAGAGGGAAGAAAACCACAGATATTGGAGTGATGCATCTACAAGTCAAAAAACAGCAAGAGCCACCAGAAGAGGCAAGAAAGGTTTCTCCCCTAAACCTTCAGAGGGAGCAGGGCCCTGCCAACACCTTAATTTCAGACTGATGGCCTCCAGCACTGTGAGAGAATACATTTCTGTTAATGATAAGCCACCAGGTTCATGGTAGTGTGTTACGGCAGCTATGGGAAACTAATACAGTGAATGAGTGAGAAGGACTCTAACAGGTAGCACCAAAGAAAGAACGTTCTGGGTGGAGGGAACAATATAAGTCAGGTAGTACATATTTGGAATCTAACACACAATCTAGTGTGATTGAAGCACAGAACAAGAGTTGTGGAACCAAGGCAGAAAATTAAGGGCCAACTTATAAAGTACTGACTTTCCTATGGTAAGGCTGGGCCTGGAAAATCAGGCTGTTCTTTCCAAGAAGAGATATGGAAGATGAACTATAGGGGCAGAACTAGAAGCCAAAAAAATCAAATGAGGAGATTAAAGCGCGGAAGACAAAAGAAAAGGGGCAGCTAGGCACGGTGGCTCACGCCTATAATCGCAGCAGTTTGGGATGCAGAGGTGGGTGGATCACTTGAGGTCAAGAGTTCGAGACCAGCCTGGCCAACATGGTAAAACCCTCTCTCTACTAAAAATACAAAAATTAGCCTGGGCATGGTGGCTCACACTTGTAATCCCAGCACTGTGGGAGGCCAAGGCGGGCAGATCACAAGGTCAGGAGTTCGAGACCAGCCTGACCAACATGGTGAAACCCCATCTCTACTAAAAATACAAAAATTAGCCAGGCATGGTGGCACGCTCCTGTAATACCAGCCAGCTACTCAGGAGGCTGAGGCAGGAGAATCACTTGAACCCGGGAGGCAGAGGTTGCAGTGAGCTGAGATGGCAACATTGCACTCCAGCCTGGGCGACAGAGCGAGACTCTGTCTTAAA
Task1_train_27611
A variant affecting Chromosome 20, within the gene VPS16 (VPS16 core subunit of CORVET and HOPS complexes), has been observed. Determine if it's benign or associated with disease.
Pathogenic; Dystonia 30
ATAGAAAATAGATTGATTTTTGTTGATCACCCTATGCCCTCTGTGAGAGTCTCGTATTCATTGTTCCCTAGACTACTTTGGGTTTTTTTTTTTTGAGACAGGGTCTCACTTTGTCACCCAGGCTGGAGTGCAGTGATGCTGTCTTGGCTCACTGCAGCCTCAACCTCCCAGGTTCAAGCGATCCTCCTGCCTCAGCCCCCCAAGTAGCTGGCATGCTACTTGTAACTACAGGCATGTGCCATCACATGCAGCTAATTTTTGTATTTTTTGTAAAGACAGGGTTTCTCCATGTTGCCCAGGCCAGTCTCGGTCCACTGAGCTCAAGCAGTCTGCCTGCTTCGGCCCCCTAAAGTGCTCAGATTACAGGCATGAGCCACCTCACTCCTTACTTTGGATTTTCTAAGTAGACAATCACATTATTTGCAAATAGAAACAACTCTGCTCCTTCATCAAAATATAAACATCTCTTTATTTTTTTTTCTTAAATTATGTTGGCTAGAACCACAACAAGGATGTCAAATAGTAGGTAATGATGGGCATATTCCTGATCATTAATGAGAAGGTCCCTGAAATGATACCGGCTGAAATGCCCTTCTTAAACACTGTCTTCTCTTGGTGTCCTGGAATAGTGCCCATTCCTTCTTAGTCCCTTTTGCTACCCCTTTTCCCCCACTCTTGAGGTATGATGACATACCTCAAGCTCCCTACTCCAACTTCCCATGCAGCACACACTCAGTGATCCATGAGCATTTCACATTGCAATCATCTCATGCCTGGTTGTGATTTGTGATTTGGTTGCCTGCCATAAGCCAAGCATTGGCAGATTAACATGCCCAATCCAGGACGACTCCCAGCACCATCTCACTGAAAAGCTCCTCTTGGATTTCTTTCAGGCACTGCTAACTCAGTACCTCTAAAACTAAGTTCATCATCAATAAGCATAGAGCTGAACCCCTGGGTATAAAGCCCACACCCTGATTCATTAAGAACCAGAAATAGGCCAGGCACTGCAGGTCACATCTGTAATACCAGCACTTTGGAGGCCAGGGTAGGAGGATTGCTTGAGCCCAGGAGTTTGAGACCAGCCTGGGCAACATGGGGAGACTCCATCTCTACAAAAAATACAGAAATTAGCCAGGTGTGGTAGTGCACCCTGGAGTTCCAGCTACCCAGGAGGCTGAGATGGGAAGATCACTTGAGCCTGAAGCTGCAAAGAGCCATGACTGTGACACTGCACCTCAGCCTGGGCAACACACTGAGACCCTCTCTCAAAAAAGAAGGACTAGAAATAGAAGAAAGGCTTTCTTCTCTGAGAGACCTTTTCTGAGAGTCTCATTTCCTGCTAAAGCTGGCCTGAGCCAGCCACTTCACTTTAGTTCTATCTCAGTTTGTGCCTTGGATGTTGGCCACGCAGCCTGCCTGGCTCAAGAGCTCCTGCCATCCTTGGACACTTGCCCCAAGAACCACATCCTTCCCTGCCAACACCCTCTGCTCCCTTGCCTGCTGTCCCTAGACATGCATGTGGTCAGTTCACCCAACTTTCTGGTCATCACCCTCCTCCCTCCCTCTGGGGGTAGAGAGTGGAGACTTCCTCTACAGCCTTGTGGAAGACAAATGGAGGCTTTAGGAATTCCTCTGGGGTTCACTCCATACGGATGCAGGGTAATGAGGCTAATTTCTGCTCATCTCTGTGTGGGCAGGAAATATGAGCTGTACAGCATGGACTGGGACCTGAAGGAGGAACTCAGGGATTGCCTGGTGGCTGCTGCACCCTATGGGGGCCCCATTGGTATGTTGCCCCTCCACCACCACCTGCTCTGGGACCCTGGGATGAACTCAAGGTCCTTGATTCCTGGGGCCCTGCTGTCAGGTTGTTCTTGTTGCCACCCCCCACTCACCCTGCTGAGATGCTTTTACTTCTGGTTTTTATAGGCCTGCTTCACATGGGGTGGGCCTGGGGAGCCAGGATGTGAGGCCTGCTTCACATGGGGTGGGCCTAGGGAGCTAGGACAGAAGGTCTCTTCTCAAACTGCAGCACTGCTGAGGAACCCCTGGCGGAAGGAGAAAGCTGCTAGTGTGAGGCCAGTGCTCGATATATACTCTGCTTCCGGCATGCCTCTGGCCAGCCTGCTGGTGAGCACTTCTGATGGTCCCTGGGGCTCAGGGCTGGACAGGGTTTCCTCACCTGAGGACAGCCTTAGGAACCTCTCTCCCCTGCAGTGGAAGAGTGGACCCGTGGTGTCCCTGGGCTGGTCAGCTGAGGAGGAGCTGCTCTGTGTGCAGGAAGATGGTGCTGTACTGGTTTATGGGCTTCATGGTGACTTCCGGAGACACTTCAGCATGGGCAATGTAGGGGTCACAGAGGGCTGGGGACGCGGGGTAGAGTTTATGACCCTGTGGCTCCCTTAACCCATGGCCCCCTTTCCTCAGGAAGTGCTCCAGAACCGGGTTCTGGATGCCCGGATCTTTCACACTGAGTTTGGTTCCGGAGTGGCCATCCTCACAGGGGCCCACCGCTTCACCCTCAGTGCCAATGTGGGTGACCTCAAACTCCGCCGGATGCCAGAGGTGCCAGGTAAGCCCTGACACCGCTGAGATAGCCAAGCAGTACCCACAGATGTGCCTCTAGCCTGTGAGACCCATAAAAACAGAAGCTGTGGCTAGAGACCCATAGAAACAGAAACGGTGGGCCTTGGTCATCCTAACACTGTCCTTTTCCCTGGCCATAGGTCTGCAAAGTGCACCCTCCTGCTGGACTGTGCTGTGCCAGGACCGAGTGGCACACATTCTTCTGGCTGTGGGGCCTGACCTTTACCTCTTGGACCATGCAGCCTGCTCCGCAGTGGTAAGGGCCCTGAGTGGGAATGAAGTGGACGGGCTGGGTTAGGCAATAGGGAGGTTCTGAAAAGTCAGTATGTATCTGTCCCACCCCTACCCTGGCTCTGCCTCAGACGCCCCCTGGCCTGGCCCCAGGAGTAAGCAGCTTCCTACAGATGGCTGTCTCCTTCACCTACCGACACCTGGCACTCTTCACAGACACAGGCTACATCTGGATGGGGACAGCATCACTCAAGGTATGATCCTGGGGCAACACAGGGGTACTGTGCCTTGTCCAGGGTACAAGATCTTTTGGTGATGCGGGAGGGCTTTTCGACTAGAATGGTGACTGCTGGGACAGGGCCATGACATTGCCCACACCATTTCAGGAGAAGCTATGTGAGTTCAACTGCAACATCCGGGCACCTCCAAAGCAGATGGTCTGGTAAGGATGGGGGTGTTATTGCTGGGGGTGTGGGTGAGACATAGCTTGCTTCCTGGGACAATCAGTTCCTTGATTCGTCATGTCTACTGGCCAAGCCTAGTGGAGTTTGGATCTTACCTTCTCTGCCATTGCACACTTGAAGGAAACCATTGTCCTCTGTGGGCCACAGCTGCCTTGAGCTGAGAGCTCAGGGATAAGAGGGAAGTGGAGAGGTCAGTGTACAGTCAGTGATGCAAGTGTATACAGGCTGTCCCGAGACAAAGGATTATGAGCAGCCATGTGGGAGACATGGCCATGGGACAGTGTCTAGCCAGTGTGTATATGCTGCTCACAGGTGCAGCCGTCCTCGTAGCAAGGAGAGGGCCGTGGTGGTGGCCTGGGAAAGGCGGCTGATGGTGGTGGGCGATGCACCCGAGAGCATCCAGTATCCTTGGAGGGCTGCCTGTGTGTGGAGAGAGGGGAGGGGAGGGTTCACCTGCCCCGTCCCATCTGTAGGTGCTCTTAGGAGCCTTAACCAAGCTCAGGTTTGTGCTGGATGAGGACTCCTACCTGGTGCCTGAGCTCGATGGGGTCCGCATCTTCTCCCGCAGCACCCACGAGTTCCTGCATGAGGTTCCAGGTGAGGCCTTCACAAGGGCACCACATAACCCAAGGTGGGGACTCCTCGGCACCCCAGCTGCCCTGGGCCAGTGCCACAGAGCAGGAATAGGGTGTTGAGGCAGGGCTGAGGGTTTCCCTGCCTTTCTCCCTCACTCACCAACTCCCTTCCCCAGCGGCCAGCGAGGAAATCTTCAAAATTGCCTCAATGGCCCCCGGGGCGCTGCTCCTGGAGGC
ATAGAAAATAGATTGATTTTTGTTGATCACCCTATGCCCTCTGTGAGAGTCTCGTATTCATTGTTCCCTAGACTACTTTGGGTTTTTTTTTTTTGAGACAGGGTCTCACTTTGTCACCCAGGCTGGAGTGCAGTGATGCTGTCTTGGCTCACTGCAGCCTCAACCTCCCAGGTTCAAGCGATCCTCCTGCCTCAGCCCCCCAAGTAGCTGGCATGCTACTTGTAACTACAGGCATGTGCCATCACATGCAGCTAATTTTTGTATTTTTTGTAAAGACAGGGTTTCTCCATGTTGCCCAGGCCAGTCTCGGTCCACTGAGCTCAAGCAGTCTGCCTGCTTCGGCCCCCTAAAGTGCTCAGATTACAGGCATGAGCCACCTCACTCCTTACTTTGGATTTTCTAAGTAGACAATCACATTATTTGCAAATAGAAACAACTCTGCTCCTTCATCAAAATATAAACATCTCTTTATTTTTTTTTCTTAAATTATGTTGGCTAGAACCACAACAAGGATGTCAAATAGTAGGTAATGATGGGCATATTCCTGATCATTAATGAGAAGGTCCCTGAAATGATACCGGCTGAAATGCCCTTCTTAAACACTGTCTTCTCTTGGTGTCCTGGAATAGTGCCCATTCCTTCTTAGTCCCTTTTGCTACCCCTTTTCCCCCACTCTTGAGGTATGATGACATACCTCAAGCTCCCTACTCCAACTTCCCATGCAGCACACACTCAGTGATCCATGAGCATTTCACATTGCAATCATCTCATGCCTGGTTGTGATTTGTGATTTGGTTGCCTGCCATAAGCCAAGCATTGGCAGATTAACATGCCCAATCCAGGACGACTCCCAGCACCATCTCACTGAAAAGCTCCTCTTGGATTTCTTTCAGGCACTGCTAACTCAGTACCTCTAAAACTAAGTTCATCATCAATAAGCATAGAGCTGAACCCCTGGGTATAAAGCCCACACCCTGATTCATTAAGAACCAGAAATAGGCCAGGCACTGCAGGTCACATCTGTAATACCAGCACTTTGGAGGCCAGGGTAGGAGGATTGCTTGAGCCCAGGAGTTTGAGACCAGCCTGGGCAACATGGGGAGACTCCATCTCTACAAAAAATACAGAAATTAGCCAGGTGTGGTAGTGCACCCTGGAGTTCCAGCTACCCAGGAGGCTGAGATGGGAAGATCACTTGAGCCTGAAGCTGCAAAGAGCCATGACTGTGACACTGCACCTCAGCCTGGGCAACACACTGAGACCCTCTCTCAAAAAAGAAGGACTAGAAATAGAAGAAAGGCTTTCTTCTCTGAGAGACCTTTTCTGAGAGTCTCATTTCCTGCTAAAGCTGGCCTGAGCCAGCCACTTCACTTTAGTTCTATCTCAGTTTGTGCCTTGGATGTTGGCCACGCAGCCTGCCTGGCTCAAGAGCTCCTGCCATCCTTGGACACTTGCCCCAAGAACCACATCCTTCCCTGCCAACACCCTCTGCTCCCTTGCCTGCTGTCCCTAGACATGCATGTGGTCAGTTCACCCAACTTTCTGGTCATCACCCTCCTCCCTCCCTCTGGGGGTAGAGAGTGGAGACTTCCTCTACAGCCTTGTGGAAGACAAATGGAGGCTTTAGGAATTCCTCTGGGGTTCACTCCATACGGATGCAGGGTAATGAGGCTAATTTCTGCTCATCTCTGTGTGGGCAGGAAATATGAGCTGTACAGCATGGACTGGGACCTGAAGGAGGAACTCAGGGATTGCCTGGTGGCTGCTGCACCCTATGGGGGCCCCATTGGTATGTTGCCCCTCCACCACCACCTGCTCTGGGACCCTGGGATGAACTCAAGGTCCTTGATTCCTGGGGCCCTGCTGTCAGGTTGTTCTTGTTGCCACCCCCCACTCACCCTGCTGAGATGCTTTTACTTCTGGTTTTTATAGGCCTGCTTCACATGGGGTGGGCCTGGGGAGCCAGGATGTGAGGCCTGCTTCACATGGGGTGGGCCTAGGGAGCTAGGACAGAAGGTCTCTTCTCAAACTGCAGCACTGCTGAGGAAACCCTGGCGGAAGGAGAAAGCTGCTAGTGTGAGGCCAGTGCTCGATATATACTCTGCTTCCGGCATGCCTCTGGCCAGCCTGCTGGTGAGCACTTCTGATGGTCCCTGGGGCTCAGGGCTGGACAGGGTTTCCTCACCTGAGGACAGCCTTAGGAACCTCTCTCCCCTGCAGTGGAAGAGTGGACCCGTGGTGTCCCTGGGCTGGTCAGCTGAGGAGGAGCTGCTCTGTGTGCAGGAAGATGGTGCTGTACTGGTTTATGGGCTTCATGGTGACTTCCGGAGACACTTCAGCATGGGCAATGTAGGGGTCACAGAGGGCTGGGGACGCGGGGTAGAGTTTATGACCCTGTGGCTCCCTTAACCCATGGCCCCCTTTCCTCAGGAAGTGCTCCAGAACCGGGTTCTGGATGCCCGGATCTTTCACACTGAGTTTGGTTCCGGAGTGGCCATCCTCACAGGGGCCCACCGCTTCACCCTCAGTGCCAATGTGGGTGACCTCAAACTCCGCCGGATGCCAGAGGTGCCAGGTAAGCCCTGACACCGCTGAGATAGCCAAGCAGTACCCACAGATGTGCCTCTAGCCTGTGAGACCCATAAAAACAGAAGCTGTGGCTAGAGACCCATAGAAACAGAAACGGTGGGCCTTGGTCATCCTAACACTGTCCTTTTCCCTGGCCATAGGTCTGCAAAGTGCACCCTCCTGCTGGACTGTGCTGTGCCAGGACCGAGTGGCACACATTCTTCTGGCTGTGGGGCCTGACCTTTACCTCTTGGACCATGCAGCCTGCTCCGCAGTGGTAAGGGCCCTGAGTGGGAATGAAGTGGACGGGCTGGGTTAGGCAATAGGGAGGTTCTGAAAAGTCAGTATGTATCTGTCCCACCCCTACCCTGGCTCTGCCTCAGACGCCCCCTGGCCTGGCCCCAGGAGTAAGCAGCTTCCTACAGATGGCTGTCTCCTTCACCTACCGACACCTGGCACTCTTCACAGACACAGGCTACATCTGGATGGGGACAGCATCACTCAAGGTATGATCCTGGGGCAACACAGGGGTACTGTGCCTTGTCCAGGGTACAAGATCTTTTGGTGATGCGGGAGGGCTTTTCGACTAGAATGGTGACTGCTGGGACAGGGCCATGACATTGCCCACACCATTTCAGGAGAAGCTATGTGAGTTCAACTGCAACATCCGGGCACCTCCAAAGCAGATGGTCTGGTAAGGATGGGGGTGTTATTGCTGGGGGTGTGGGTGAGACATAGCTTGCTTCCTGGGACAATCAGTTCCTTGATTCGTCATGTCTACTGGCCAAGCCTAGTGGAGTTTGGATCTTACCTTCTCTGCCATTGCACACTTGAAGGAAACCATTGTCCTCTGTGGGCCACAGCTGCCTTGAGCTGAGAGCTCAGGGATAAGAGGGAAGTGGAGAGGTCAGTGTACAGTCAGTGATGCAAGTGTATACAGGCTGTCCCGAGACAAAGGATTATGAGCAGCCATGTGGGAGACATGGCCATGGGACAGTGTCTAGCCAGTGTGTATATGCTGCTCACAGGTGCAGCCGTCCTCGTAGCAAGGAGAGGGCCGTGGTGGTGGCCTGGGAAAGGCGGCTGATGGTGGTGGGCGATGCACCCGAGAGCATCCAGTATCCTTGGAGGGCTGCCTGTGTGTGGAGAGAGGGGAGGGGAGGGTTCACCTGCCCCGTCCCATCTGTAGGTGCTCTTAGGAGCCTTAACCAAGCTCAGGTTTGTGCTGGATGAGGACTCCTACCTGGTGCCTGAGCTCGATGGGGTCCGCATCTTCTCCCGCAGCACCCACGAGTTCCTGCATGAGGTTCCAGGTGAGGCCTTCACAAGGGCACCACATAACCCAAGGTGGGGACTCCTCGGCACCCCAGCTGCCCTGGGCCAGTGCCACAGAGCAGGAATAGGGTGTTGAGGCAGGGCTGAGGGTTTCCCTGCCTTTCTCCCTCACTCACCAACTCCCTTCCCCAGCGGCCAGCGAGGAAATCTTCAAAATTGCCTCAATGGCCCCCGGGGCGCTGCTCCTGGAGGC
Task1_train_27612
Here is a genetic alteration in AVP (arginine vasopressin) on Chromosome 20. Based on the data, is it a benign variant or a cause of disease?
Pathogenic; Neurohypophyseal diabetes insipidus
AGGGAGGTGGACATTTGGGCAAATTGGGGGTGGGCAGACATTCGTCACCCCTTCCAAGAAATAGTAGCCTGATTGTTTTGACAAAGACAAGTGGAGGGAAAGGAGTCTCTGAATCTGTATTTAGGAAGAGGAAGTTCCTGGACCTCATTCTAAAACTGTCCCCAAGTCCAGACACTAACACTTTGGATTGAATTCAGTGCAGCCAAGCCACCTGCCTCTTCCTATTTCCCAGTCTGGAAGAGTTAATAAATTCCTATTAGGTTTGGTCCTGCTCTAGCCCCAGCCAGATGGGGGATGGCCCTGAGTGGACAACATGAAACAGGAGCAGGAGGTCATGGCAGTGACCCAAGCCTGCATGGTCCCTGTCCCCACTGGCTAGACCCAGTCGTGCCGGGCACTGCCTGGCAGAGGAGCCCAGAACCAGGTCAGGGGTGAGAGCCAAGGGGAGCCCTGGGAGTGTGGAAGAGAGCCTGACCTTGACATGTGCCTGGACTCTGCCCAGGGCTGCTGAGGCTGGGCTGCTTGAGTCACCAGGCTTGGCCGTAAGCCTGGGCATTGGGGTCAGGGCCCAGGCGGACTTCCCTCCTCCTGCACTCCCTCCTGACCTCAGAGTTTGCGGAGGATCCCGAAGGAGATGCAGCCTCTTGTGGCTCCAAGACCTGGAGCAGGAAGCCCAAGGAGAGGATGCAGAGAAAAGAGGAGGCCAAGAGAGAGAAGGATGGGAGGTGGCAGAGGGGGTGAGGGGACAGAAGGGGAGGGGTGGAGGGGCCAAGGAGAGAGGCAAGAGGGGGCCCAGGAGCTGGCAGAACAGGGAGGCGAGAGCAGAGTGAGAGACAAAGGAGAGAAAGGGGCAGATGGGACCAGAAAGGCCTCAGGTTCAAGAAGGGGGTGAGAGAACCCAAGGGATGCAGAGGAAGAGGCCGAGCACTGCTGGACGTCTTTTCGCCAAAGGGGCTCATGTCAAAGGGCGGAAGGTCTTCATGTCTGGGAGCTAATGTGAGTGCACTCCTGCTTGTGTGAGCCTGTACATACATGCTCCTGCCCATCCTCGTGTCGGCTGTGTCTGTGTTTCTCTGGGTGTCTGTGGCTCTGAATGTGGGGCTCAGGGTCTCTGTGGTTGTGGTCAAGGGTTGCGGACACGTTCTTAGCAGTTATTTTCTTGTCTGTTTCTGTCCAAGCGTGCTTGGGGTTGTGTGGGGCTGTATCTGTTAGGGGTCCCCCACTCTGGCTGAGGGGCCCTAATGGTGGGTGCACTGGACAGACAGTGATGTCCCCACCGCCACTACACACGAGCACTGCCTTGGGTGAATCAGACATTGCACTGGGAATCCCGGGACCAGGGTGGGTCCCTGAGCGGTTTGTGTTTCAGTCTCCTGGGATGAAAATGGGGACAGAATGGTCACCCCTCGGCCTGTCCCCTCTGCCTCTCTCACTCTTCTCTCCGTCACTGTCAATGTCTCTGCATCTCTCTCCAACATTCTGCTGTCTCTGTCTCTGGGTCTCTTGCTGTCTTGTCCTCCAGGCCTTTCCCTCTCTGCCTTTACTTCTTTCCCTCTGCCGGAGGATCCTCAACCCACCCCCTCCAAGGCCACTCTCGGCCTCTGGTCTCCCCCTCCCCTGCCTCCCAATTCGCCCTGTCCCTCGGTCTAGCGACACCTCTGCGGGTCCCAGATCGCTTCCTCTACGGGACCTGTTGCTTCTCTGGGGTGGATCTGCCCACGACCTCAGGTCCGGGGACTGGCCGGTGGGCGTGGTGGCGGGGGTCCGCGCTCCCACCTCTCTCCCTTTCCCTCTTCCCGCCAGAGACTGAGACAGACGCGAGGCCGTGCATTGGCGGAGGTTTATTGTCCGTGCTGCAGGGGCGGGCGCGAAGAGCGCGCCGGTGGGGCGAGCGCGGGGCTCAGTAGGCGTCGGGCTGGGCGGGCTCGAAGGGCTCGGGCGCCCCGGCCAGCTGCACCAGCCGCAGCAGCAAGGCCCCGGCCGGCCCGTCCAGCTGCGTGGCGTTGCTCCGGTCGCTGGCGCGGGCGCGGCGGTGAAAGCCCTCGCGGCACTCGGGCTCGGTCACGCAGCTCTCTGCCGGGAGGACGTGTGAGCACGGGCGCCCTGGGGCGGGCGCAGCTCGGGGTGCGGGGGGCCCACACCCTCCCTGCCGGGCCCGACGCAGCCCCCACCCCGCCGCAGGCCCGCGTCCCCCCCACCCAAGCGGTCTGCGCCCCCCCCAGCCCCAGGCCCGCCCCCGCCGCGCACCGTCGTTGCAGCAAACGCCGAAGGCGGCGCAGCGGCCCCCGCTCCCGCACGCCTTCTGGCCGGACTGGCAGGGCGACGGCAGGTAGTTCTCCTCCTGGCAGCGCAGCGCCTCAGCCGTGCCCACGAAGCAGCCCAGCTCGTCCGCGCAGCAGATGCTGGGCCCGAAGCAGCGGCCTTTGCCCCCGGGGCCGCAGGGGAGGCACTGCGGGGACGGGCGGGGTGAGCGGGAGGAGGGGAGCCGGGAGTCGAGGGGTTGGAGGGGAACGCAGCGAGGCGGGGATGCTGGGGTCCAGGGCTCGGAGTGCGGGCGGGACACCGGGGCTGCGGCTGCAGGCACGCTCGGGCGCCACTGGGCCTCGACCGCGGTCACGGGCGGGGCGTCCAGATCTGCTCGGCACCTTGGTTTCTTGGATGACCTCTCGGTGACAGCCCTCAGCGTCCTCACCCTCAGCTAGGGACGGGTCTCCCGTGGACTACAGCGTGGGGAACCCTTCCTCGAGCCTCGGGGTCATCGCTGGTGGGCGCCACTGTTGCAGCTGCCCCACCCTCCACCACTCCAGACCCTTCCTCCTTCCTCCTCGCCCTGCTGCGGCTTGAGCCCGGGCCCACCCCCTTCCCCACTACACCATGCGGAGAGGCCCTACCCATCCAGAACCCCGGCCCTTCCCATTTCCTGTCTCCTCTCTTGCCTTGCCCCTGGCCCCCGCCAAGCTTGTCGGCCTCAGCTGGAGCCCTGACCCCTGCTCAGCCACCTATGACCTATCAGGTGGGTGGCAGGGGCCTGAGACCTAGAGGCGAGCACGGACACCCAGGTGCCTCAGGACCCTAAAGGAGCCTAGCAGGAGGAAGAGAGGCTGCGGGGGTTGCCGAGCGGCCACTCTCATCTGCTCAACAGCCGGTTCTCTGGCGCAATGGATAGCGCATTAGACTTTTAGCTGAGCCTGGTGTGGTCTAATTTGCTCAAGGGCTCATCATTGAGCCTGGACAGAATTGCATGCACATCGTGATTGGATTTCCTTCAGCTCTGCTGGAAATGGAGGAAACGTCCAGCACTATAGAATTAGGCCAGGTTCCCAGCAGAACTTCCCCACAGGATGCCCCACTCAAGCGCGCTCAGACCAGTGGCCATCTTCTGTGTGGGGGCCTGGGCGCCTGTGGCTGGGAGGCTGGGGCTGGATGAGGAAAGCCTCCAATGCTAGGTAGGATGGAGCCTCTGCTGCCCCAGCCAGTCCAGATGCAAGAACGCCATGGGCACAGGGGAGGCCATGATGCCCCGTTCTCCCTATCCAGCCCCAAGCCCAGTCACCGGGGAAGCATCCCTCATTTCCCTGCATCCCTGTCTGGATGGCGACAGTGACCAGGAGCGCCTTCAGCCTCTCCCAGCCTCCTCCAAAGCCTGGTCCCCTCTGGCCCACCCCATTGGCTCCTCTGCCCAGCCATGCCATGCCTCCCTCTTCCTCCCCCGAACTTCCCCTAAAGGCTACCACCACCCATGACTTCCCTCTTTCCTAGCCCCTGACCCAGGGTGTCAGCACTGCCCGCTATGGCAGCCCTGAGATGGCCCACAGTGGGAAGTACCTGTCTCAGCTCCAGGTCGGACATGGCCCTCTTGCCGCCCCTCGGGCAGTTCTGGAAGTAGCACGCGGAGGAGAAGGCCAGTAGGCCGAGGAAGCAGGCGGGCAGCATGGTGTCAGGCATCCTGGTGCACACAGGTGGACCCCGTATGCAGCACTGCTTGGTGGCTCTGTGCTGCTGCCTCTGCTGGCTGCCTATTTATGTCCGCAGGTGTTCCCGTGGAGGCGAGACGCGGCCGCCACCCCCTCCCCAGTGGCTCCCCAGGAGCCCACGG
AGGGAGGTGGACATTTGGGCAAATTGGGGGTGGGCAGACATTCGTCACCCCTTCCAAGAAATAGTAGCCTGATTGTTTTGACAAAGACAAGTGGAGGGAAAGGAGTCTCTGAATCTGTATTTAGGAAGAGGAAGTTCCTGGACCTCATTCTAAAACTGTCCCCAAGTCCAGACACTAACACTTTGGATTGAATTCAGTGCAGCCAAGCCACCTGCCTCTTCCTATTTCCCAGTCTGGAAGAGTTAATAAATTCCTATTAGGTTTGGTCCTGCTCTAGCCCCAGCCAGATGGGGGATGGCCCTGAGTGGACAACATGAAACAGGAGCAGGAGGTCATGGCAGTGACCCAAGCCTGCATGGTCCCTGTCCCCACTGGCTAGACCCAGTCGTGCCGGGCACTGCCTGGCAGAGGAGCCCAGAACCAGGTCAGGGGTGAGAGCCAAGGGGAGCCCTGGGAGTGTGGAAGAGAGCCTGACCTTGACATGTGCCTGGACTCTGCCCAGGGCTGCTGAGGCTGGGCTGCTTGAGTCACCAGGCTTGGCCGTAAGCCTGGGCATTGGGGTCAGGGCCCAGGCGGACTTCCCTCCTCCTGCACTCCCTCCTGACCTCAGAGTTTGCGGAGGATCCCGAAGGAGATGCAGCCTCTTGTGGCTCCAAGACCTGGAGCAGGAAGCCCAAGGAGAGGATGCAGAGAAAAGAGGAGGCCAAGAGAGAGAAGGATGGGAGGTGGCAGAGGGGGTGAGGGGACAGAAGGGGAGGGGTGGAGGGGCCAAGGAGAGAGGCAAGAGGGGGCCCAGGAGCTGGCAGAACAGGGAGGCGAGAGCAGAGTGAGAGACAAAGGAGAGAAAGGGGCAGATGGGACCAGAAAGGCCTCAGGTTCAAGAAGGGGGTGAGAGAACCCAAGGGATGCAGAGGAAGAGGCCGAGCACTGCTGGACGTCTTTTCGCCAAAGGGGCTCATGTCAAAGGGCGGAAGGTCTTCATGTCTGGGAGCTAATGTGAGTGCACTCCTGCTTGTGTGAGCCTGTACATACATGCTCCTGCCCATCCTCGTGTCGGCTGTGTCTGTGTTTCTCTGGGTGTCTGTGGCTCTGAATGTGGGGCTCAGGGTCTCTGTGGTTGTGGTCAAGGGTTGCGGACACGTTCTTAGCAGTTATTTTCTTGTCTGTTTCTGTCCAAGCGTGCTTGGGGTTGTGTGGGGCTGTATCTGTTAGGGGTCCCCCACTCTGGCTGAGGGGCCCTAATGGTGGGTGCACTGGACAGACAGTGATGTCCCCACCGCCACTACACACGAGCACTGCCTTGGGTGAATCAGACATTGCACTGGGAATCCCGGGACCAGGGTGGGTCCCTGAGCGGTTTGTGTTTCAGTCTCCTGGGATGAAAATGGGGACAGAATGGTCACCCCTCGGCCTGTCCCCTCTGCCTCTCTCACTCTTCTCTCCGTCACTGTCAATGTCTCTGCATCTCTCTCCAACATTCTGCTGTCTCTGTCTCTGGGTCTCTTGCTGTCTTGTCCTCCAGGCCTTTCCCTCTCTGCCTTTACTTCTTTCCCTCTGCCGGAGGATCCTCAACCCACCCCCTCCAAGGCCACTCTCGGCCTCTGGTCTCCCCCTCCCCTGCCTCCCAATTCGCCCTGTCCCTCGGTCTAGCGACACCTCTGCGGGTCCCAGATCGCTTCCTCTACGGGACCTGTTGCTTCTCTGGGGTGGATCTGCCCACGACCTCAGGTCCGGGGACTGGCCGGTGGGCGTGGTGGCGGGGGTCCGCGCTCCCACCTCTCTCCCTTTCCCTCTTCCCGCCAGAGACTGAGACAGACGCGAGGCCGTGCATTGGCGGAGGTTTATTGTCCGTGCTGCAGGGGCGGGCGCGAAGAGCGCGCCGGTGGGGCGAGCGCGGGGCTCAGTAGGCGTCGGGCTGGGCGGGCTCGAAGGGCTCGGGCGCCCCGGCCAGCTGCACCAGCCGCAGCAGCAAGGCCCCGGCCGGCCCGTCCAGCTGCGTGGCGTTGCTCCGGTCGCTGGCGCGGGCGCGGCGGTGAAAGCCCTCGCGGTACTCGGGCTCGGTCACGCAGCTCTCTGCCGGGAGGACGTGTGAGCACGGGCGCCCTGGGGCGGGCGCAGCTCGGGGTGCGGGGGGCCCACACCCTCCCTGCCGGGCCCGACGCAGCCCCCACCCCGCCGCAGGCCCGCGTCCCCCCCACCCAAGCGGTCTGCGCCCCCCCCAGCCCCAGGCCCGCCCCCGCCGCGCACCGTCGTTGCAGCAAACGCCGAAGGCGGCGCAGCGGCCCCCGCTCCCGCACGCCTTCTGGCCGGACTGGCAGGGCGACGGCAGGTAGTTCTCCTCCTGGCAGCGCAGCGCCTCAGCCGTGCCCACGAAGCAGCCCAGCTCGTCCGCGCAGCAGATGCTGGGCCCGAAGCAGCGGCCTTTGCCCCCGGGGCCGCAGGGGAGGCACTGCGGGGACGGGCGGGGTGAGCGGGAGGAGGGGAGCCGGGAGTCGAGGGGTTGGAGGGGAACGCAGCGAGGCGGGGATGCTGGGGTCCAGGGCTCGGAGTGCGGGCGGGACACCGGGGCTGCGGCTGCAGGCACGCTCGGGCGCCACTGGGCCTCGACCGCGGTCACGGGCGGGGCGTCCAGATCTGCTCGGCACCTTGGTTTCTTGGATGACCTCTCGGTGACAGCCCTCAGCGTCCTCACCCTCAGCTAGGGACGGGTCTCCCGTGGACTACAGCGTGGGGAACCCTTCCTCGAGCCTCGGGGTCATCGCTGGTGGGCGCCACTGTTGCAGCTGCCCCACCCTCCACCACTCCAGACCCTTCCTCCTTCCTCCTCGCCCTGCTGCGGCTTGAGCCCGGGCCCACCCCCTTCCCCACTACACCATGCGGAGAGGCCCTACCCATCCAGAACCCCGGCCCTTCCCATTTCCTGTCTCCTCTCTTGCCTTGCCCCTGGCCCCCGCCAAGCTTGTCGGCCTCAGCTGGAGCCCTGACCCCTGCTCAGCCACCTATGACCTATCAGGTGGGTGGCAGGGGCCTGAGACCTAGAGGCGAGCACGGACACCCAGGTGCCTCAGGACCCTAAAGGAGCCTAGCAGGAGGAAGAGAGGCTGCGGGGGTTGCCGAGCGGCCACTCTCATCTGCTCAACAGCCGGTTCTCTGGCGCAATGGATAGCGCATTAGACTTTTAGCTGAGCCTGGTGTGGTCTAATTTGCTCAAGGGCTCATCATTGAGCCTGGACAGAATTGCATGCACATCGTGATTGGATTTCCTTCAGCTCTGCTGGAAATGGAGGAAACGTCCAGCACTATAGAATTAGGCCAGGTTCCCAGCAGAACTTCCCCACAGGATGCCCCACTCAAGCGCGCTCAGACCAGTGGCCATCTTCTGTGTGGGGGCCTGGGCGCCTGTGGCTGGGAGGCTGGGGCTGGATGAGGAAAGCCTCCAATGCTAGGTAGGATGGAGCCTCTGCTGCCCCAGCCAGTCCAGATGCAAGAACGCCATGGGCACAGGGGAGGCCATGATGCCCCGTTCTCCCTATCCAGCCCCAAGCCCAGTCACCGGGGAAGCATCCCTCATTTCCCTGCATCCCTGTCTGGATGGCGACAGTGACCAGGAGCGCCTTCAGCCTCTCCCAGCCTCCTCCAAAGCCTGGTCCCCTCTGGCCCACCCCATTGGCTCCTCTGCCCAGCCATGCCATGCCTCCCTCTTCCTCCCCCGAACTTCCCCTAAAGGCTACCACCACCCATGACTTCCCTCTTTCCTAGCCCCTGACCCAGGGTGTCAGCACTGCCCGCTATGGCAGCCCTGAGATGGCCCACAGTGGGAAGTACCTGTCTCAGCTCCAGGTCGGACATGGCCCTCTTGCCGCCCCTCGGGCAGTTCTGGAAGTAGCACGCGGAGGAGAAGGCCAGTAGGCCGAGGAAGCAGGCGGGCAGCATGGTGTCAGGCATCCTGGTGCACACAGGTGGACCCCGTATGCAGCACTGCTTGGTGGCTCTGTGCTGCTGCCTCTGCTGGCTGCCTATTTATGTCCGCAGGTGTTCCCGTGGAGGCGAGACGCGGCCGCCACCCCCTCCCCAGTGGCTCCCCAGGAGCCCACGG
Task1_train_27613
The variant affects gene AVP (arginine vasopressin), which is on Chromosome 20. Please evaluate whether this mutation is benign or pathogenic and specify the disease if necessary.
Pathogenic; Neurohypophyseal diabetes insipidus
GGGAGGTGGACATTTGGGCAAATTGGGGGTGGGCAGACATTCGTCACCCCTTCCAAGAAATAGTAGCCTGATTGTTTTGACAAAGACAAGTGGAGGGAAAGGAGTCTCTGAATCTGTATTTAGGAAGAGGAAGTTCCTGGACCTCATTCTAAAACTGTCCCCAAGTCCAGACACTAACACTTTGGATTGAATTCAGTGCAGCCAAGCCACCTGCCTCTTCCTATTTCCCAGTCTGGAAGAGTTAATAAATTCCTATTAGGTTTGGTCCTGCTCTAGCCCCAGCCAGATGGGGGATGGCCCTGAGTGGACAACATGAAACAGGAGCAGGAGGTCATGGCAGTGACCCAAGCCTGCATGGTCCCTGTCCCCACTGGCTAGACCCAGTCGTGCCGGGCACTGCCTGGCAGAGGAGCCCAGAACCAGGTCAGGGGTGAGAGCCAAGGGGAGCCCTGGGAGTGTGGAAGAGAGCCTGACCTTGACATGTGCCTGGACTCTGCCCAGGGCTGCTGAGGCTGGGCTGCTTGAGTCACCAGGCTTGGCCGTAAGCCTGGGCATTGGGGTCAGGGCCCAGGCGGACTTCCCTCCTCCTGCACTCCCTCCTGACCTCAGAGTTTGCGGAGGATCCCGAAGGAGATGCAGCCTCTTGTGGCTCCAAGACCTGGAGCAGGAAGCCCAAGGAGAGGATGCAGAGAAAAGAGGAGGCCAAGAGAGAGAAGGATGGGAGGTGGCAGAGGGGGTGAGGGGACAGAAGGGGAGGGGTGGAGGGGCCAAGGAGAGAGGCAAGAGGGGGCCCAGGAGCTGGCAGAACAGGGAGGCGAGAGCAGAGTGAGAGACAAAGGAGAGAAAGGGGCAGATGGGACCAGAAAGGCCTCAGGTTCAAGAAGGGGGTGAGAGAACCCAAGGGATGCAGAGGAAGAGGCCGAGCACTGCTGGACGTCTTTTCGCCAAAGGGGCTCATGTCAAAGGGCGGAAGGTCTTCATGTCTGGGAGCTAATGTGAGTGCACTCCTGCTTGTGTGAGCCTGTACATACATGCTCCTGCCCATCCTCGTGTCGGCTGTGTCTGTGTTTCTCTGGGTGTCTGTGGCTCTGAATGTGGGGCTCAGGGTCTCTGTGGTTGTGGTCAAGGGTTGCGGACACGTTCTTAGCAGTTATTTTCTTGTCTGTTTCTGTCCAAGCGTGCTTGGGGTTGTGTGGGGCTGTATCTGTTAGGGGTCCCCCACTCTGGCTGAGGGGCCCTAATGGTGGGTGCACTGGACAGACAGTGATGTCCCCACCGCCACTACACACGAGCACTGCCTTGGGTGAATCAGACATTGCACTGGGAATCCCGGGACCAGGGTGGGTCCCTGAGCGGTTTGTGTTTCAGTCTCCTGGGATGAAAATGGGGACAGAATGGTCACCCCTCGGCCTGTCCCCTCTGCCTCTCTCACTCTTCTCTCCGTCACTGTCAATGTCTCTGCATCTCTCTCCAACATTCTGCTGTCTCTGTCTCTGGGTCTCTTGCTGTCTTGTCCTCCAGGCCTTTCCCTCTCTGCCTTTACTTCTTTCCCTCTGCCGGAGGATCCTCAACCCACCCCCTCCAAGGCCACTCTCGGCCTCTGGTCTCCCCCTCCCCTGCCTCCCAATTCGCCCTGTCCCTCGGTCTAGCGACACCTCTGCGGGTCCCAGATCGCTTCCTCTACGGGACCTGTTGCTTCTCTGGGGTGGATCTGCCCACGACCTCAGGTCCGGGGACTGGCCGGTGGGCGTGGTGGCGGGGGTCCGCGCTCCCACCTCTCTCCCTTTCCCTCTTCCCGCCAGAGACTGAGACAGACGCGAGGCCGTGCATTGGCGGAGGTTTATTGTCCGTGCTGCAGGGGCGGGCGCGAAGAGCGCGCCGGTGGGGCGAGCGCGGGGCTCAGTAGGCGTCGGGCTGGGCGGGCTCGAAGGGCTCGGGCGCCCCGGCCAGCTGCACCAGCCGCAGCAGCAAGGCCCCGGCCGGCCCGTCCAGCTGCGTGGCGTTGCTCCGGTCGCTGGCGCGGGCGCGGCGGTGAAAGCCCTCGCGGCACTCGGGCTCGGTCACGCAGCTCTCTGCCGGGAGGACGTGTGAGCACGGGCGCCCTGGGGCGGGCGCAGCTCGGGGTGCGGGGGGCCCACACCCTCCCTGCCGGGCCCGACGCAGCCCCCACCCCGCCGCAGGCCCGCGTCCCCCCCACCCAAGCGGTCTGCGCCCCCCCCAGCCCCAGGCCCGCCCCCGCCGCGCACCGTCGTTGCAGCAAACGCCGAAGGCGGCGCAGCGGCCCCCGCTCCCGCACGCCTTCTGGCCGGACTGGCAGGGCGACGGCAGGTAGTTCTCCTCCTGGCAGCGCAGCGCCTCAGCCGTGCCCACGAAGCAGCCCAGCTCGTCCGCGCAGCAGATGCTGGGCCCGAAGCAGCGGCCTTTGCCCCCGGGGCCGCAGGGGAGGCACTGCGGGGACGGGCGGGGTGAGCGGGAGGAGGGGAGCCGGGAGTCGAGGGGTTGGAGGGGAACGCAGCGAGGCGGGGATGCTGGGGTCCAGGGCTCGGAGTGCGGGCGGGACACCGGGGCTGCGGCTGCAGGCACGCTCGGGCGCCACTGGGCCTCGACCGCGGTCACGGGCGGGGCGTCCAGATCTGCTCGGCACCTTGGTTTCTTGGATGACCTCTCGGTGACAGCCCTCAGCGTCCTCACCCTCAGCTAGGGACGGGTCTCCCGTGGACTACAGCGTGGGGAACCCTTCCTCGAGCCTCGGGGTCATCGCTGGTGGGCGCCACTGTTGCAGCTGCCCCACCCTCCACCACTCCAGACCCTTCCTCCTTCCTCCTCGCCCTGCTGCGGCTTGAGCCCGGGCCCACCCCCTTCCCCACTACACCATGCGGAGAGGCCCTACCCATCCAGAACCCCGGCCCTTCCCATTTCCTGTCTCCTCTCTTGCCTTGCCCCTGGCCCCCGCCAAGCTTGTCGGCCTCAGCTGGAGCCCTGACCCCTGCTCAGCCACCTATGACCTATCAGGTGGGTGGCAGGGGCCTGAGACCTAGAGGCGAGCACGGACACCCAGGTGCCTCAGGACCCTAAAGGAGCCTAGCAGGAGGAAGAGAGGCTGCGGGGGTTGCCGAGCGGCCACTCTCATCTGCTCAACAGCCGGTTCTCTGGCGCAATGGATAGCGCATTAGACTTTTAGCTGAGCCTGGTGTGGTCTAATTTGCTCAAGGGCTCATCATTGAGCCTGGACAGAATTGCATGCACATCGTGATTGGATTTCCTTCAGCTCTGCTGGAAATGGAGGAAACGTCCAGCACTATAGAATTAGGCCAGGTTCCCAGCAGAACTTCCCCACAGGATGCCCCACTCAAGCGCGCTCAGACCAGTGGCCATCTTCTGTGTGGGGGCCTGGGCGCCTGTGGCTGGGAGGCTGGGGCTGGATGAGGAAAGCCTCCAATGCTAGGTAGGATGGAGCCTCTGCTGCCCCAGCCAGTCCAGATGCAAGAACGCCATGGGCACAGGGGAGGCCATGATGCCCCGTTCTCCCTATCCAGCCCCAAGCCCAGTCACCGGGGAAGCATCCCTCATTTCCCTGCATCCCTGTCTGGATGGCGACAGTGACCAGGAGCGCCTTCAGCCTCTCCCAGCCTCCTCCAAAGCCTGGTCCCCTCTGGCCCACCCCATTGGCTCCTCTGCCCAGCCATGCCATGCCTCCCTCTTCCTCCCCCGAACTTCCCCTAAAGGCTACCACCACCCATGACTTCCCTCTTTCCTAGCCCCTGACCCAGGGTGTCAGCACTGCCCGCTATGGCAGCCCTGAGATGGCCCACAGTGGGAAGTACCTGTCTCAGCTCCAGGTCGGACATGGCCCTCTTGCCGCCCCTCGGGCAGTTCTGGAAGTAGCACGCGGAGGAGAAGGCCAGTAGGCCGAGGAAGCAGGCGGGCAGCATGGTGTCAGGCATCCTGGTGCACACAGGTGGACCCCGTATGCAGCACTGCTTGGTGGCTCTGTGCTGCTGCCTCTGCTGGCTGCCTATTTATGTCCGCAGGTGTTCCCGTGGAGGCGAGACGCGGCCGCCACCCCCTCCCCAGTGGCTCCCCAGGAGCCCACGGC
GGGAGGTGGACATTTGGGCAAATTGGGGGTGGGCAGACATTCGTCACCCCTTCCAAGAAATAGTAGCCTGATTGTTTTGACAAAGACAAGTGGAGGGAAAGGAGTCTCTGAATCTGTATTTAGGAAGAGGAAGTTCCTGGACCTCATTCTAAAACTGTCCCCAAGTCCAGACACTAACACTTTGGATTGAATTCAGTGCAGCCAAGCCACCTGCCTCTTCCTATTTCCCAGTCTGGAAGAGTTAATAAATTCCTATTAGGTTTGGTCCTGCTCTAGCCCCAGCCAGATGGGGGATGGCCCTGAGTGGACAACATGAAACAGGAGCAGGAGGTCATGGCAGTGACCCAAGCCTGCATGGTCCCTGTCCCCACTGGCTAGACCCAGTCGTGCCGGGCACTGCCTGGCAGAGGAGCCCAGAACCAGGTCAGGGGTGAGAGCCAAGGGGAGCCCTGGGAGTGTGGAAGAGAGCCTGACCTTGACATGTGCCTGGACTCTGCCCAGGGCTGCTGAGGCTGGGCTGCTTGAGTCACCAGGCTTGGCCGTAAGCCTGGGCATTGGGGTCAGGGCCCAGGCGGACTTCCCTCCTCCTGCACTCCCTCCTGACCTCAGAGTTTGCGGAGGATCCCGAAGGAGATGCAGCCTCTTGTGGCTCCAAGACCTGGAGCAGGAAGCCCAAGGAGAGGATGCAGAGAAAAGAGGAGGCCAAGAGAGAGAAGGATGGGAGGTGGCAGAGGGGGTGAGGGGACAGAAGGGGAGGGGTGGAGGGGCCAAGGAGAGAGGCAAGAGGGGGCCCAGGAGCTGGCAGAACAGGGAGGCGAGAGCAGAGTGAGAGACAAAGGAGAGAAAGGGGCAGATGGGACCAGAAAGGCCTCAGGTTCAAGAAGGGGGTGAGAGAACCCAAGGGATGCAGAGGAAGAGGCCGAGCACTGCTGGACGTCTTTTCGCCAAAGGGGCTCATGTCAAAGGGCGGAAGGTCTTCATGTCTGGGAGCTAATGTGAGTGCACTCCTGCTTGTGTGAGCCTGTACATACATGCTCCTGCCCATCCTCGTGTCGGCTGTGTCTGTGTTTCTCTGGGTGTCTGTGGCTCTGAATGTGGGGCTCAGGGTCTCTGTGGTTGTGGTCAAGGGTTGCGGACACGTTCTTAGCAGTTATTTTCTTGTCTGTTTCTGTCCAAGCGTGCTTGGGGTTGTGTGGGGCTGTATCTGTTAGGGGTCCCCCACTCTGGCTGAGGGGCCCTAATGGTGGGTGCACTGGACAGACAGTGATGTCCCCACCGCCACTACACACGAGCACTGCCTTGGGTGAATCAGACATTGCACTGGGAATCCCGGGACCAGGGTGGGTCCCTGAGCGGTTTGTGTTTCAGTCTCCTGGGATGAAAATGGGGACAGAATGGTCACCCCTCGGCCTGTCCCCTCTGCCTCTCTCACTCTTCTCTCCGTCACTGTCAATGTCTCTGCATCTCTCTCCAACATTCTGCTGTCTCTGTCTCTGGGTCTCTTGCTGTCTTGTCCTCCAGGCCTTTCCCTCTCTGCCTTTACTTCTTTCCCTCTGCCGGAGGATCCTCAACCCACCCCCTCCAAGGCCACTCTCGGCCTCTGGTCTCCCCCTCCCCTGCCTCCCAATTCGCCCTGTCCCTCGGTCTAGCGACACCTCTGCGGGTCCCAGATCGCTTCCTCTACGGGACCTGTTGCTTCTCTGGGGTGGATCTGCCCACGACCTCAGGTCCGGGGACTGGCCGGTGGGCGTGGTGGCGGGGGTCCGCGCTCCCACCTCTCTCCCTTTCCCTCTTCCCGCCAGAGACTGAGACAGACGCGAGGCCGTGCATTGGCGGAGGTTTATTGTCCGTGCTGCAGGGGCGGGCGCGAAGAGCGCGCCGGTGGGGCGAGCGCGGGGCTCAGTAGGCGTCGGGCTGGGCGGGCTCGAAGGGCTCGGGCGCCCCGGCCAGCTGCACCAGCCGCAGCAGCAAGGCCCCGGCCGGCCCGTCCAGCTGCGTGGCGTTGCTCCGGTCGCTGGCGCGGGCGCGGCGGTGAAAGCCCTCGCGGCCCTCGGGCTCGGTCACGCAGCTCTCTGCCGGGAGGACGTGTGAGCACGGGCGCCCTGGGGCGGGCGCAGCTCGGGGTGCGGGGGGCCCACACCCTCCCTGCCGGGCCCGACGCAGCCCCCACCCCGCCGCAGGCCCGCGTCCCCCCCACCCAAGCGGTCTGCGCCCCCCCCAGCCCCAGGCCCGCCCCCGCCGCGCACCGTCGTTGCAGCAAACGCCGAAGGCGGCGCAGCGGCCCCCGCTCCCGCACGCCTTCTGGCCGGACTGGCAGGGCGACGGCAGGTAGTTCTCCTCCTGGCAGCGCAGCGCCTCAGCCGTGCCCACGAAGCAGCCCAGCTCGTCCGCGCAGCAGATGCTGGGCCCGAAGCAGCGGCCTTTGCCCCCGGGGCCGCAGGGGAGGCACTGCGGGGACGGGCGGGGTGAGCGGGAGGAGGGGAGCCGGGAGTCGAGGGGTTGGAGGGGAACGCAGCGAGGCGGGGATGCTGGGGTCCAGGGCTCGGAGTGCGGGCGGGACACCGGGGCTGCGGCTGCAGGCACGCTCGGGCGCCACTGGGCCTCGACCGCGGTCACGGGCGGGGCGTCCAGATCTGCTCGGCACCTTGGTTTCTTGGATGACCTCTCGGTGACAGCCCTCAGCGTCCTCACCCTCAGCTAGGGACGGGTCTCCCGTGGACTACAGCGTGGGGAACCCTTCCTCGAGCCTCGGGGTCATCGCTGGTGGGCGCCACTGTTGCAGCTGCCCCACCCTCCACCACTCCAGACCCTTCCTCCTTCCTCCTCGCCCTGCTGCGGCTTGAGCCCGGGCCCACCCCCTTCCCCACTACACCATGCGGAGAGGCCCTACCCATCCAGAACCCCGGCCCTTCCCATTTCCTGTCTCCTCTCTTGCCTTGCCCCTGGCCCCCGCCAAGCTTGTCGGCCTCAGCTGGAGCCCTGACCCCTGCTCAGCCACCTATGACCTATCAGGTGGGTGGCAGGGGCCTGAGACCTAGAGGCGAGCACGGACACCCAGGTGCCTCAGGACCCTAAAGGAGCCTAGCAGGAGGAAGAGAGGCTGCGGGGGTTGCCGAGCGGCCACTCTCATCTGCTCAACAGCCGGTTCTCTGGCGCAATGGATAGCGCATTAGACTTTTAGCTGAGCCTGGTGTGGTCTAATTTGCTCAAGGGCTCATCATTGAGCCTGGACAGAATTGCATGCACATCGTGATTGGATTTCCTTCAGCTCTGCTGGAAATGGAGGAAACGTCCAGCACTATAGAATTAGGCCAGGTTCCCAGCAGAACTTCCCCACAGGATGCCCCACTCAAGCGCGCTCAGACCAGTGGCCATCTTCTGTGTGGGGGCCTGGGCGCCTGTGGCTGGGAGGCTGGGGCTGGATGAGGAAAGCCTCCAATGCTAGGTAGGATGGAGCCTCTGCTGCCCCAGCCAGTCCAGATGCAAGAACGCCATGGGCACAGGGGAGGCCATGATGCCCCGTTCTCCCTATCCAGCCCCAAGCCCAGTCACCGGGGAAGCATCCCTCATTTCCCTGCATCCCTGTCTGGATGGCGACAGTGACCAGGAGCGCCTTCAGCCTCTCCCAGCCTCCTCCAAAGCCTGGTCCCCTCTGGCCCACCCCATTGGCTCCTCTGCCCAGCCATGCCATGCCTCCCTCTTCCTCCCCCGAACTTCCCCTAAAGGCTACCACCACCCATGACTTCCCTCTTTCCTAGCCCCTGACCCAGGGTGTCAGCACTGCCCGCTATGGCAGCCCTGAGATGGCCCACAGTGGGAAGTACCTGTCTCAGCTCCAGGTCGGACATGGCCCTCTTGCCGCCCCTCGGGCAGTTCTGGAAGTAGCACGCGGAGGAGAAGGCCAGTAGGCCGAGGAAGCAGGCGGGCAGCATGGTGTCAGGCATCCTGGTGCACACAGGTGGACCCCGTATGCAGCACTGCTTGGTGGCTCTGTGCTGCTGCCTCTGCTGGCTGCCTATTTATGTCCGCAGGTGTTCCCGTGGAGGCGAGACGCGGCCGCCACCCCCTCCCCAGTGGCTCCCCAGGAGCCCACGGC
Task1_train_27614
A mutation found in AVP (arginine vasopressin) on Chromosome 20 may be clinically relevant. Is it pathogenic or benign, and if the former, which disease is implicated?
Pathogenic; Neurohypophyseal diabetes insipidus
TGGAAGAGTTAATAAATTCCTATTAGGTTTGGTCCTGCTCTAGCCCCAGCCAGATGGGGGATGGCCCTGAGTGGACAACATGAAACAGGAGCAGGAGGTCATGGCAGTGACCCAAGCCTGCATGGTCCCTGTCCCCACTGGCTAGACCCAGTCGTGCCGGGCACTGCCTGGCAGAGGAGCCCAGAACCAGGTCAGGGGTGAGAGCCAAGGGGAGCCCTGGGAGTGTGGAAGAGAGCCTGACCTTGACATGTGCCTGGACTCTGCCCAGGGCTGCTGAGGCTGGGCTGCTTGAGTCACCAGGCTTGGCCGTAAGCCTGGGCATTGGGGTCAGGGCCCAGGCGGACTTCCCTCCTCCTGCACTCCCTCCTGACCTCAGAGTTTGCGGAGGATCCCGAAGGAGATGCAGCCTCTTGTGGCTCCAAGACCTGGAGCAGGAAGCCCAAGGAGAGGATGCAGAGAAAAGAGGAGGCCAAGAGAGAGAAGGATGGGAGGTGGCAGAGGGGGTGAGGGGACAGAAGGGGAGGGGTGGAGGGGCCAAGGAGAGAGGCAAGAGGGGGCCCAGGAGCTGGCAGAACAGGGAGGCGAGAGCAGAGTGAGAGACAAAGGAGAGAAAGGGGCAGATGGGACCAGAAAGGCCTCAGGTTCAAGAAGGGGGTGAGAGAACCCAAGGGATGCAGAGGAAGAGGCCGAGCACTGCTGGACGTCTTTTCGCCAAAGGGGCTCATGTCAAAGGGCGGAAGGTCTTCATGTCTGGGAGCTAATGTGAGTGCACTCCTGCTTGTGTGAGCCTGTACATACATGCTCCTGCCCATCCTCGTGTCGGCTGTGTCTGTGTTTCTCTGGGTGTCTGTGGCTCTGAATGTGGGGCTCAGGGTCTCTGTGGTTGTGGTCAAGGGTTGCGGACACGTTCTTAGCAGTTATTTTCTTGTCTGTTTCTGTCCAAGCGTGCTTGGGGTTGTGTGGGGCTGTATCTGTTAGGGGTCCCCCACTCTGGCTGAGGGGCCCTAATGGTGGGTGCACTGGACAGACAGTGATGTCCCCACCGCCACTACACACGAGCACTGCCTTGGGTGAATCAGACATTGCACTGGGAATCCCGGGACCAGGGTGGGTCCCTGAGCGGTTTGTGTTTCAGTCTCCTGGGATGAAAATGGGGACAGAATGGTCACCCCTCGGCCTGTCCCCTCTGCCTCTCTCACTCTTCTCTCCGTCACTGTCAATGTCTCTGCATCTCTCTCCAACATTCTGCTGTCTCTGTCTCTGGGTCTCTTGCTGTCTTGTCCTCCAGGCCTTTCCCTCTCTGCCTTTACTTCTTTCCCTCTGCCGGAGGATCCTCAACCCACCCCCTCCAAGGCCACTCTCGGCCTCTGGTCTCCCCCTCCCCTGCCTCCCAATTCGCCCTGTCCCTCGGTCTAGCGACACCTCTGCGGGTCCCAGATCGCTTCCTCTACGGGACCTGTTGCTTCTCTGGGGTGGATCTGCCCACGACCTCAGGTCCGGGGACTGGCCGGTGGGCGTGGTGGCGGGGGTCCGCGCTCCCACCTCTCTCCCTTTCCCTCTTCCCGCCAGAGACTGAGACAGACGCGAGGCCGTGCATTGGCGGAGGTTTATTGTCCGTGCTGCAGGGGCGGGCGCGAAGAGCGCGCCGGTGGGGCGAGCGCGGGGCTCAGTAGGCGTCGGGCTGGGCGGGCTCGAAGGGCTCGGGCGCCCCGGCCAGCTGCACCAGCCGCAGCAGCAAGGCCCCGGCCGGCCCGTCCAGCTGCGTGGCGTTGCTCCGGTCGCTGGCGCGGGCGCGGCGGTGAAAGCCCTCGCGGCACTCGGGCTCGGTCACGCAGCTCTCTGCCGGGAGGACGTGTGAGCACGGGCGCCCTGGGGCGGGCGCAGCTCGGGGTGCGGGGGGCCCACACCCTCCCTGCCGGGCCCGACGCAGCCCCCACCCCGCCGCAGGCCCGCGTCCCCCCCACCCAAGCGGTCTGCGCCCCCCCCAGCCCCAGGCCCGCCCCCGCCGCGCACCGTCGTTGCAGCAAACGCCGAAGGCGGCGCAGCGGCCCCCGCTCCCGCACGCCTTCTGGCCGGACTGGCAGGGCGACGGCAGGTAGTTCTCCTCCTGGCAGCGCAGCGCCTCAGCCGTGCCCACGAAGCAGCCCAGCTCGTCCGCGCAGCAGATGCTGGGCCCGAAGCAGCGGCCTTTGCCCCCGGGGCCGCAGGGGAGGCACTGCGGGGACGGGCGGGGTGAGCGGGAGGAGGGGAGCCGGGAGTCGAGGGGTTGGAGGGGAACGCAGCGAGGCGGGGATGCTGGGGTCCAGGGCTCGGAGTGCGGGCGGGACACCGGGGCTGCGGCTGCAGGCACGCTCGGGCGCCACTGGGCCTCGACCGCGGTCACGGGCGGGGCGTCCAGATCTGCTCGGCACCTTGGTTTCTTGGATGACCTCTCGGTGACAGCCCTCAGCGTCCTCACCCTCAGCTAGGGACGGGTCTCCCGTGGACTACAGCGTGGGGAACCCTTCCTCGAGCCTCGGGGTCATCGCTGGTGGGCGCCACTGTTGCAGCTGCCCCACCCTCCACCACTCCAGACCCTTCCTCCTTCCTCCTCGCCCTGCTGCGGCTTGAGCCCGGGCCCACCCCCTTCCCCACTACACCATGCGGAGAGGCCCTACCCATCCAGAACCCCGGCCCTTCCCATTTCCTGTCTCCTCTCTTGCCTTGCCCCTGGCCCCCGCCAAGCTTGTCGGCCTCAGCTGGAGCCCTGACCCCTGCTCAGCCACCTATGACCTATCAGGTGGGTGGCAGGGGCCTGAGACCTAGAGGCGAGCACGGACACCCAGGTGCCTCAGGACCCTAAAGGAGCCTAGCAGGAGGAAGAGAGGCTGCGGGGGTTGCCGAGCGGCCACTCTCATCTGCTCAACAGCCGGTTCTCTGGCGCAATGGATAGCGCATTAGACTTTTAGCTGAGCCTGGTGTGGTCTAATTTGCTCAAGGGCTCATCATTGAGCCTGGACAGAATTGCATGCACATCGTGATTGGATTTCCTTCAGCTCTGCTGGAAATGGAGGAAACGTCCAGCACTATAGAATTAGGCCAGGTTCCCAGCAGAACTTCCCCACAGGATGCCCCACTCAAGCGCGCTCAGACCAGTGGCCATCTTCTGTGTGGGGGCCTGGGCGCCTGTGGCTGGGAGGCTGGGGCTGGATGAGGAAAGCCTCCAATGCTAGGTAGGATGGAGCCTCTGCTGCCCCAGCCAGTCCAGATGCAAGAACGCCATGGGCACAGGGGAGGCCATGATGCCCCGTTCTCCCTATCCAGCCCCAAGCCCAGTCACCGGGGAAGCATCCCTCATTTCCCTGCATCCCTGTCTGGATGGCGACAGTGACCAGGAGCGCCTTCAGCCTCTCCCAGCCTCCTCCAAAGCCTGGTCCCCTCTGGCCCACCCCATTGGCTCCTCTGCCCAGCCATGCCATGCCTCCCTCTTCCTCCCCCGAACTTCCCCTAAAGGCTACCACCACCCATGACTTCCCTCTTTCCTAGCCCCTGACCCAGGGTGTCAGCACTGCCCGCTATGGCAGCCCTGAGATGGCCCACAGTGGGAAGTACCTGTCTCAGCTCCAGGTCGGACATGGCCCTCTTGCCGCCCCTCGGGCAGTTCTGGAAGTAGCACGCGGAGGAGAAGGCCAGTAGGCCGAGGAAGCAGGCGGGCAGCATGGTGTCAGGCATCCTGGTGCACACAGGTGGACCCCGTATGCAGCACTGCTTGGTGGCTCTGTGCTGCTGCCTCTGCTGGCTGCCTATTTATGTCCGCAGGTGTTCCCGTGGAGGCGAGACGCGGCCGCCACCCCCTCCCCAGTGGCTCCCCAGGAGCCCACGGCCGCCAGGTCCCCAGCCGTCAGCAGTGATTCAGGCATCTGGGGACACACGTGGGCCTGTCTGTGCAGGGGATCATAGGGGAGGGGTACGGGCCGCCAGGCTGTCATGGGCCGCGGAATGACAGCAATTGCCTCTACTGTGACTGCAGCGCTCTGGATTCAGGGAGAGGGACAGACTGGGGGGTCACCTGGAGACCATCTCTGAGCTTTCTGATTACCCAGAAATGGCGTAGGGT
TGGAAGAGTTAATAAATTCCTATTAGGTTTGGTCCTGCTCTAGCCCCAGCCAGATGGGGGATGGCCCTGAGTGGACAACATGAAACAGGAGCAGGAGGTCATGGCAGTGACCCAAGCCTGCATGGTCCCTGTCCCCACTGGCTAGACCCAGTCGTGCCGGGCACTGCCTGGCAGAGGAGCCCAGAACCAGGTCAGGGGTGAGAGCCAAGGGGAGCCCTGGGAGTGTGGAAGAGAGCCTGACCTTGACATGTGCCTGGACTCTGCCCAGGGCTGCTGAGGCTGGGCTGCTTGAGTCACCAGGCTTGGCCGTAAGCCTGGGCATTGGGGTCAGGGCCCAGGCGGACTTCCCTCCTCCTGCACTCCCTCCTGACCTCAGAGTTTGCGGAGGATCCCGAAGGAGATGCAGCCTCTTGTGGCTCCAAGACCTGGAGCAGGAAGCCCAAGGAGAGGATGCAGAGAAAAGAGGAGGCCAAGAGAGAGAAGGATGGGAGGTGGCAGAGGGGGTGAGGGGACAGAAGGGGAGGGGTGGAGGGGCCAAGGAGAGAGGCAAGAGGGGGCCCAGGAGCTGGCAGAACAGGGAGGCGAGAGCAGAGTGAGAGACAAAGGAGAGAAAGGGGCAGATGGGACCAGAAAGGCCTCAGGTTCAAGAAGGGGGTGAGAGAACCCAAGGGATGCAGAGGAAGAGGCCGAGCACTGCTGGACGTCTTTTCGCCAAAGGGGCTCATGTCAAAGGGCGGAAGGTCTTCATGTCTGGGAGCTAATGTGAGTGCACTCCTGCTTGTGTGAGCCTGTACATACATGCTCCTGCCCATCCTCGTGTCGGCTGTGTCTGTGTTTCTCTGGGTGTCTGTGGCTCTGAATGTGGGGCTCAGGGTCTCTGTGGTTGTGGTCAAGGGTTGCGGACACGTTCTTAGCAGTTATTTTCTTGTCTGTTTCTGTCCAAGCGTGCTTGGGGTTGTGTGGGGCTGTATCTGTTAGGGGTCCCCCACTCTGGCTGAGGGGCCCTAATGGTGGGTGCACTGGACAGACAGTGATGTCCCCACCGCCACTACACACGAGCACTGCCTTGGGTGAATCAGACATTGCACTGGGAATCCCGGGACCAGGGTGGGTCCCTGAGCGGTTTGTGTTTCAGTCTCCTGGGATGAAAATGGGGACAGAATGGTCACCCCTCGGCCTGTCCCCTCTGCCTCTCTCACTCTTCTCTCCGTCACTGTCAATGTCTCTGCATCTCTCTCCAACATTCTGCTGTCTCTGTCTCTGGGTCTCTTGCTGTCTTGTCCTCCAGGCCTTTCCCTCTCTGCCTTTACTTCTTTCCCTCTGCCGGAGGATCCTCAACCCACCCCCTCCAAGGCCACTCTCGGCCTCTGGTCTCCCCCTCCCCTGCCTCCCAATTCGCCCTGTCCCTCGGTCTAGCGACACCTCTGCGGGTCCCAGATCGCTTCCTCTACGGGACCTGTTGCTTCTCTGGGGTGGATCTGCCCACGACCTCAGGTCCGGGGACTGGCCGGTGGGCGTGGTGGCGGGGGTCCGCGCTCCCACCTCTCTCCCTTTCCCTCTTCCCGCCAGAGACTGAGACAGACGCGAGGCCGTGCATTGGCGGAGGTTTATTGTCCGTGCTGCAGGGGCGGGCGCGAAGAGCGCGCCGGTGGGGCGAGCGCGGGGCTCAGTAGGCGTCGGGCTGGGCGGGCTCGAAGGGCTCGGGCGCCCCGGCCAGCTGCACCAGCCGCAGCAGCAAGGCCCCGGCCGGCCCGTCCAGCTGCGTGGCGTTGCTCCGGTCGCTGGCGCGGGCGCGGCGGTGAAAGCCCTCGCGGCACTCGGGCTCGGTCACGCAGCTCTCTGCCGGGAGGACGTGTGAGCACGGGCGCCCTGGGGCGGGCGCAGCTCGGGGTGCGGGGGGCCCACACCCTCCCTGCCGGGCCCGACGCAGCCCCCACCCCGCCGCAGGCCCGCGTCCCCCCCACCCAAGCGGTCTGCGCCCCCCCCAGCCCCAGGCCCGCCCCCGCCGCGCACCGTCGTTGCAGCAAACGCCGAAGGCGGCGCAGCGGACCCCGCTCCCGCACGCCTTCTGGCCGGACTGGCAGGGCGACGGCAGGTAGTTCTCCTCCTGGCAGCGCAGCGCCTCAGCCGTGCCCACGAAGCAGCCCAGCTCGTCCGCGCAGCAGATGCTGGGCCCGAAGCAGCGGCCTTTGCCCCCGGGGCCGCAGGGGAGGCACTGCGGGGACGGGCGGGGTGAGCGGGAGGAGGGGAGCCGGGAGTCGAGGGGTTGGAGGGGAACGCAGCGAGGCGGGGATGCTGGGGTCCAGGGCTCGGAGTGCGGGCGGGACACCGGGGCTGCGGCTGCAGGCACGCTCGGGCGCCACTGGGCCTCGACCGCGGTCACGGGCGGGGCGTCCAGATCTGCTCGGCACCTTGGTTTCTTGGATGACCTCTCGGTGACAGCCCTCAGCGTCCTCACCCTCAGCTAGGGACGGGTCTCCCGTGGACTACAGCGTGGGGAACCCTTCCTCGAGCCTCGGGGTCATCGCTGGTGGGCGCCACTGTTGCAGCTGCCCCACCCTCCACCACTCCAGACCCTTCCTCCTTCCTCCTCGCCCTGCTGCGGCTTGAGCCCGGGCCCACCCCCTTCCCCACTACACCATGCGGAGAGGCCCTACCCATCCAGAACCCCGGCCCTTCCCATTTCCTGTCTCCTCTCTTGCCTTGCCCCTGGCCCCCGCCAAGCTTGTCGGCCTCAGCTGGAGCCCTGACCCCTGCTCAGCCACCTATGACCTATCAGGTGGGTGGCAGGGGCCTGAGACCTAGAGGCGAGCACGGACACCCAGGTGCCTCAGGACCCTAAAGGAGCCTAGCAGGAGGAAGAGAGGCTGCGGGGGTTGCCGAGCGGCCACTCTCATCTGCTCAACAGCCGGTTCTCTGGCGCAATGGATAGCGCATTAGACTTTTAGCTGAGCCTGGTGTGGTCTAATTTGCTCAAGGGCTCATCATTGAGCCTGGACAGAATTGCATGCACATCGTGATTGGATTTCCTTCAGCTCTGCTGGAAATGGAGGAAACGTCCAGCACTATAGAATTAGGCCAGGTTCCCAGCAGAACTTCCCCACAGGATGCCCCACTCAAGCGCGCTCAGACCAGTGGCCATCTTCTGTGTGGGGGCCTGGGCGCCTGTGGCTGGGAGGCTGGGGCTGGATGAGGAAAGCCTCCAATGCTAGGTAGGATGGAGCCTCTGCTGCCCCAGCCAGTCCAGATGCAAGAACGCCATGGGCACAGGGGAGGCCATGATGCCCCGTTCTCCCTATCCAGCCCCAAGCCCAGTCACCGGGGAAGCATCCCTCATTTCCCTGCATCCCTGTCTGGATGGCGACAGTGACCAGGAGCGCCTTCAGCCTCTCCCAGCCTCCTCCAAAGCCTGGTCCCCTCTGGCCCACCCCATTGGCTCCTCTGCCCAGCCATGCCATGCCTCCCTCTTCCTCCCCCGAACTTCCCCTAAAGGCTACCACCACCCATGACTTCCCTCTTTCCTAGCCCCTGACCCAGGGTGTCAGCACTGCCCGCTATGGCAGCCCTGAGATGGCCCACAGTGGGAAGTACCTGTCTCAGCTCCAGGTCGGACATGGCCCTCTTGCCGCCCCTCGGGCAGTTCTGGAAGTAGCACGCGGAGGAGAAGGCCAGTAGGCCGAGGAAGCAGGCGGGCAGCATGGTGTCAGGCATCCTGGTGCACACAGGTGGACCCCGTATGCAGCACTGCTTGGTGGCTCTGTGCTGCTGCCTCTGCTGGCTGCCTATTTATGTCCGCAGGTGTTCCCGTGGAGGCGAGACGCGGCCGCCACCCCCTCCCCAGTGGCTCCCCAGGAGCCCACGGCCGCCAGGTCCCCAGCCGTCAGCAGTGATTCAGGCATCTGGGGACACACGTGGGCCTGTCTGTGCAGGGGATCATAGGGGAGGGGTACGGGCCGCCAGGCTGTCATGGGCCGCGGAATGACAGCAATTGCCTCTACTGTGACTGCAGCGCTCTGGATTCAGGGAGAGGGACAGACTGGGGGGTCACCTGGAGACCATCTCTGAGCTTTCTGATTACCCAGAAATGGCGTAGGGT
Task1_train_27615
Here is a variant affecting AVP (arginine vasopressin) on Chromosome 20. Please identify whether it is a benign mutation or associated with a disorder.
Pathogenic; Neurohypophyseal diabetes insipidus
AATAAATTCCTATTAGGTTTGGTCCTGCTCTAGCCCCAGCCAGATGGGGGATGGCCCTGAGTGGACAACATGAAACAGGAGCAGGAGGTCATGGCAGTGACCCAAGCCTGCATGGTCCCTGTCCCCACTGGCTAGACCCAGTCGTGCCGGGCACTGCCTGGCAGAGGAGCCCAGAACCAGGTCAGGGGTGAGAGCCAAGGGGAGCCCTGGGAGTGTGGAAGAGAGCCTGACCTTGACATGTGCCTGGACTCTGCCCAGGGCTGCTGAGGCTGGGCTGCTTGAGTCACCAGGCTTGGCCGTAAGCCTGGGCATTGGGGTCAGGGCCCAGGCGGACTTCCCTCCTCCTGCACTCCCTCCTGACCTCAGAGTTTGCGGAGGATCCCGAAGGAGATGCAGCCTCTTGTGGCTCCAAGACCTGGAGCAGGAAGCCCAAGGAGAGGATGCAGAGAAAAGAGGAGGCCAAGAGAGAGAAGGATGGGAGGTGGCAGAGGGGGTGAGGGGACAGAAGGGGAGGGGTGGAGGGGCCAAGGAGAGAGGCAAGAGGGGGCCCAGGAGCTGGCAGAACAGGGAGGCGAGAGCAGAGTGAGAGACAAAGGAGAGAAAGGGGCAGATGGGACCAGAAAGGCCTCAGGTTCAAGAAGGGGGTGAGAGAACCCAAGGGATGCAGAGGAAGAGGCCGAGCACTGCTGGACGTCTTTTCGCCAAAGGGGCTCATGTCAAAGGGCGGAAGGTCTTCATGTCTGGGAGCTAATGTGAGTGCACTCCTGCTTGTGTGAGCCTGTACATACATGCTCCTGCCCATCCTCGTGTCGGCTGTGTCTGTGTTTCTCTGGGTGTCTGTGGCTCTGAATGTGGGGCTCAGGGTCTCTGTGGTTGTGGTCAAGGGTTGCGGACACGTTCTTAGCAGTTATTTTCTTGTCTGTTTCTGTCCAAGCGTGCTTGGGGTTGTGTGGGGCTGTATCTGTTAGGGGTCCCCCACTCTGGCTGAGGGGCCCTAATGGTGGGTGCACTGGACAGACAGTGATGTCCCCACCGCCACTACACACGAGCACTGCCTTGGGTGAATCAGACATTGCACTGGGAATCCCGGGACCAGGGTGGGTCCCTGAGCGGTTTGTGTTTCAGTCTCCTGGGATGAAAATGGGGACAGAATGGTCACCCCTCGGCCTGTCCCCTCTGCCTCTCTCACTCTTCTCTCCGTCACTGTCAATGTCTCTGCATCTCTCTCCAACATTCTGCTGTCTCTGTCTCTGGGTCTCTTGCTGTCTTGTCCTCCAGGCCTTTCCCTCTCTGCCTTTACTTCTTTCCCTCTGCCGGAGGATCCTCAACCCACCCCCTCCAAGGCCACTCTCGGCCTCTGGTCTCCCCCTCCCCTGCCTCCCAATTCGCCCTGTCCCTCGGTCTAGCGACACCTCTGCGGGTCCCAGATCGCTTCCTCTACGGGACCTGTTGCTTCTCTGGGGTGGATCTGCCCACGACCTCAGGTCCGGGGACTGGCCGGTGGGCGTGGTGGCGGGGGTCCGCGCTCCCACCTCTCTCCCTTTCCCTCTTCCCGCCAGAGACTGAGACAGACGCGAGGCCGTGCATTGGCGGAGGTTTATTGTCCGTGCTGCAGGGGCGGGCGCGAAGAGCGCGCCGGTGGGGCGAGCGCGGGGCTCAGTAGGCGTCGGGCTGGGCGGGCTCGAAGGGCTCGGGCGCCCCGGCCAGCTGCACCAGCCGCAGCAGCAAGGCCCCGGCCGGCCCGTCCAGCTGCGTGGCGTTGCTCCGGTCGCTGGCGCGGGCGCGGCGGTGAAAGCCCTCGCGGCACTCGGGCTCGGTCACGCAGCTCTCTGCCGGGAGGACGTGTGAGCACGGGCGCCCTGGGGCGGGCGCAGCTCGGGGTGCGGGGGGCCCACACCCTCCCTGCCGGGCCCGACGCAGCCCCCACCCCGCCGCAGGCCCGCGTCCCCCCCACCCAAGCGGTCTGCGCCCCCCCCAGCCCCAGGCCCGCCCCCGCCGCGCACCGTCGTTGCAGCAAACGCCGAAGGCGGCGCAGCGGCCCCCGCTCCCGCACGCCTTCTGGCCGGACTGGCAGGGCGACGGCAGGTAGTTCTCCTCCTGGCAGCGCAGCGCCTCAGCCGTGCCCACGAAGCAGCCCAGCTCGTCCGCGCAGCAGATGCTGGGCCCGAAGCAGCGGCCTTTGCCCCCGGGGCCGCAGGGGAGGCACTGCGGGGACGGGCGGGGTGAGCGGGAGGAGGGGAGCCGGGAGTCGAGGGGTTGGAGGGGAACGCAGCGAGGCGGGGATGCTGGGGTCCAGGGCTCGGAGTGCGGGCGGGACACCGGGGCTGCGGCTGCAGGCACGCTCGGGCGCCACTGGGCCTCGACCGCGGTCACGGGCGGGGCGTCCAGATCTGCTCGGCACCTTGGTTTCTTGGATGACCTCTCGGTGACAGCCCTCAGCGTCCTCACCCTCAGCTAGGGACGGGTCTCCCGTGGACTACAGCGTGGGGAACCCTTCCTCGAGCCTCGGGGTCATCGCTGGTGGGCGCCACTGTTGCAGCTGCCCCACCCTCCACCACTCCAGACCCTTCCTCCTTCCTCCTCGCCCTGCTGCGGCTTGAGCCCGGGCCCACCCCCTTCCCCACTACACCATGCGGAGAGGCCCTACCCATCCAGAACCCCGGCCCTTCCCATTTCCTGTCTCCTCTCTTGCCTTGCCCCTGGCCCCCGCCAAGCTTGTCGGCCTCAGCTGGAGCCCTGACCCCTGCTCAGCCACCTATGACCTATCAGGTGGGTGGCAGGGGCCTGAGACCTAGAGGCGAGCACGGACACCCAGGTGCCTCAGGACCCTAAAGGAGCCTAGCAGGAGGAAGAGAGGCTGCGGGGGTTGCCGAGCGGCCACTCTCATCTGCTCAACAGCCGGTTCTCTGGCGCAATGGATAGCGCATTAGACTTTTAGCTGAGCCTGGTGTGGTCTAATTTGCTCAAGGGCTCATCATTGAGCCTGGACAGAATTGCATGCACATCGTGATTGGATTTCCTTCAGCTCTGCTGGAAATGGAGGAAACGTCCAGCACTATAGAATTAGGCCAGGTTCCCAGCAGAACTTCCCCACAGGATGCCCCACTCAAGCGCGCTCAGACCAGTGGCCATCTTCTGTGTGGGGGCCTGGGCGCCTGTGGCTGGGAGGCTGGGGCTGGATGAGGAAAGCCTCCAATGCTAGGTAGGATGGAGCCTCTGCTGCCCCAGCCAGTCCAGATGCAAGAACGCCATGGGCACAGGGGAGGCCATGATGCCCCGTTCTCCCTATCCAGCCCCAAGCCCAGTCACCGGGGAAGCATCCCTCATTTCCCTGCATCCCTGTCTGGATGGCGACAGTGACCAGGAGCGCCTTCAGCCTCTCCCAGCCTCCTCCAAAGCCTGGTCCCCTCTGGCCCACCCCATTGGCTCCTCTGCCCAGCCATGCCATGCCTCCCTCTTCCTCCCCCGAACTTCCCCTAAAGGCTACCACCACCCATGACTTCCCTCTTTCCTAGCCCCTGACCCAGGGTGTCAGCACTGCCCGCTATGGCAGCCCTGAGATGGCCCACAGTGGGAAGTACCTGTCTCAGCTCCAGGTCGGACATGGCCCTCTTGCCGCCCCTCGGGCAGTTCTGGAAGTAGCACGCGGAGGAGAAGGCCAGTAGGCCGAGGAAGCAGGCGGGCAGCATGGTGTCAGGCATCCTGGTGCACACAGGTGGACCCCGTATGCAGCACTGCTTGGTGGCTCTGTGCTGCTGCCTCTGCTGGCTGCCTATTTATGTCCGCAGGTGTTCCCGTGGAGGCGAGACGCGGCCGCCACCCCCTCCCCAGTGGCTCCCCAGGAGCCCACGGCCGCCAGGTCCCCAGCCGTCAGCAGTGATTCAGGCATCTGGGGACACACGTGGGCCTGTCTGTGCAGGGGATCATAGGGGAGGGGTACGGGCCGCCAGGCTGTCATGGGCCGCGGAATGACAGCAATTGCCTCTACTGTGACTGCAGCGCTCTGGATTCAGGGAGAGGGACAGACTGGGGGGTCACCTGGAGACCATCTCTGAGCTTTCTGATTACCCAGAAATGGCGTAGGGTCCAAGAAGAG
AATAAATTCCTATTAGGTTTGGTCCTGCTCTAGCCCCAGCCAGATGGGGGATGGCCCTGAGTGGACAACATGAAACAGGAGCAGGAGGTCATGGCAGTGACCCAAGCCTGCATGGTCCCTGTCCCCACTGGCTAGACCCAGTCGTGCCGGGCACTGCCTGGCAGAGGAGCCCAGAACCAGGTCAGGGGTGAGAGCCAAGGGGAGCCCTGGGAGTGTGGAAGAGAGCCTGACCTTGACATGTGCCTGGACTCTGCCCAGGGCTGCTGAGGCTGGGCTGCTTGAGTCACCAGGCTTGGCCGTAAGCCTGGGCATTGGGGTCAGGGCCCAGGCGGACTTCCCTCCTCCTGCACTCCCTCCTGACCTCAGAGTTTGCGGAGGATCCCGAAGGAGATGCAGCCTCTTGTGGCTCCAAGACCTGGAGCAGGAAGCCCAAGGAGAGGATGCAGAGAAAAGAGGAGGCCAAGAGAGAGAAGGATGGGAGGTGGCAGAGGGGGTGAGGGGACAGAAGGGGAGGGGTGGAGGGGCCAAGGAGAGAGGCAAGAGGGGGCCCAGGAGCTGGCAGAACAGGGAGGCGAGAGCAGAGTGAGAGACAAAGGAGAGAAAGGGGCAGATGGGACCAGAAAGGCCTCAGGTTCAAGAAGGGGGTGAGAGAACCCAAGGGATGCAGAGGAAGAGGCCGAGCACTGCTGGACGTCTTTTCGCCAAAGGGGCTCATGTCAAAGGGCGGAAGGTCTTCATGTCTGGGAGCTAATGTGAGTGCACTCCTGCTTGTGTGAGCCTGTACATACATGCTCCTGCCCATCCTCGTGTCGGCTGTGTCTGTGTTTCTCTGGGTGTCTGTGGCTCTGAATGTGGGGCTCAGGGTCTCTGTGGTTGTGGTCAAGGGTTGCGGACACGTTCTTAGCAGTTATTTTCTTGTCTGTTTCTGTCCAAGCGTGCTTGGGGTTGTGTGGGGCTGTATCTGTTAGGGGTCCCCCACTCTGGCTGAGGGGCCCTAATGGTGGGTGCACTGGACAGACAGTGATGTCCCCACCGCCACTACACACGAGCACTGCCTTGGGTGAATCAGACATTGCACTGGGAATCCCGGGACCAGGGTGGGTCCCTGAGCGGTTTGTGTTTCAGTCTCCTGGGATGAAAATGGGGACAGAATGGTCACCCCTCGGCCTGTCCCCTCTGCCTCTCTCACTCTTCTCTCCGTCACTGTCAATGTCTCTGCATCTCTCTCCAACATTCTGCTGTCTCTGTCTCTGGGTCTCTTGCTGTCTTGTCCTCCAGGCCTTTCCCTCTCTGCCTTTACTTCTTTCCCTCTGCCGGAGGATCCTCAACCCACCCCCTCCAAGGCCACTCTCGGCCTCTGGTCTCCCCCTCCCCTGCCTCCCAATTCGCCCTGTCCCTCGGTCTAGCGACACCTCTGCGGGTCCCAGATCGCTTCCTCTACGGGACCTGTTGCTTCTCTGGGGTGGATCTGCCCACGACCTCAGGTCCGGGGACTGGCCGGTGGGCGTGGTGGCGGGGGTCCGCGCTCCCACCTCTCTCCCTTTCCCTCTTCCCGCCAGAGACTGAGACAGACGCGAGGCCGTGCATTGGCGGAGGTTTATTGTCCGTGCTGCAGGGGCGGGCGCGAAGAGCGCGCCGGTGGGGCGAGCGCGGGGCTCAGTAGGCGTCGGGCTGGGCGGGCTCGAAGGGCTCGGGCGCCCCGGCCAGCTGCACCAGCCGCAGCAGCAAGGCCCCGGCCGGCCCGTCCAGCTGCGTGGCGTTGCTCCGGTCGCTGGCGCGGGCGCGGCGGTGAAAGCCCTCGCGGCACTCGGGCTCGGTCACGCAGCTCTCTGCCGGGAGGACGTGTGAGCACGGGCGCCCTGGGGCGGGCGCAGCTCGGGGTGCGGGGGGCCCACACCCTCCCTGCCGGGCCCGACGCAGCCCCCACCCCGCCGCAGGCCCGCGTCCCCCCCACCCAAGCGGTCTGCGCCCCCCCCAGCCCCAGGCCCGCCCCCGCCGCGCACCGTCGTTGCAGCAAACGCCGAAGGCGGCGCAGCGGCCCCCGCTCCAGCACGCCTTCTGGCCGGACTGGCAGGGCGACGGCAGGTAGTTCTCCTCCTGGCAGCGCAGCGCCTCAGCCGTGCCCACGAAGCAGCCCAGCTCGTCCGCGCAGCAGATGCTGGGCCCGAAGCAGCGGCCTTTGCCCCCGGGGCCGCAGGGGAGGCACTGCGGGGACGGGCGGGGTGAGCGGGAGGAGGGGAGCCGGGAGTCGAGGGGTTGGAGGGGAACGCAGCGAGGCGGGGATGCTGGGGTCCAGGGCTCGGAGTGCGGGCGGGACACCGGGGCTGCGGCTGCAGGCACGCTCGGGCGCCACTGGGCCTCGACCGCGGTCACGGGCGGGGCGTCCAGATCTGCTCGGCACCTTGGTTTCTTGGATGACCTCTCGGTGACAGCCCTCAGCGTCCTCACCCTCAGCTAGGGACGGGTCTCCCGTGGACTACAGCGTGGGGAACCCTTCCTCGAGCCTCGGGGTCATCGCTGGTGGGCGCCACTGTTGCAGCTGCCCCACCCTCCACCACTCCAGACCCTTCCTCCTTCCTCCTCGCCCTGCTGCGGCTTGAGCCCGGGCCCACCCCCTTCCCCACTACACCATGCGGAGAGGCCCTACCCATCCAGAACCCCGGCCCTTCCCATTTCCTGTCTCCTCTCTTGCCTTGCCCCTGGCCCCCGCCAAGCTTGTCGGCCTCAGCTGGAGCCCTGACCCCTGCTCAGCCACCTATGACCTATCAGGTGGGTGGCAGGGGCCTGAGACCTAGAGGCGAGCACGGACACCCAGGTGCCTCAGGACCCTAAAGGAGCCTAGCAGGAGGAAGAGAGGCTGCGGGGGTTGCCGAGCGGCCACTCTCATCTGCTCAACAGCCGGTTCTCTGGCGCAATGGATAGCGCATTAGACTTTTAGCTGAGCCTGGTGTGGTCTAATTTGCTCAAGGGCTCATCATTGAGCCTGGACAGAATTGCATGCACATCGTGATTGGATTTCCTTCAGCTCTGCTGGAAATGGAGGAAACGTCCAGCACTATAGAATTAGGCCAGGTTCCCAGCAGAACTTCCCCACAGGATGCCCCACTCAAGCGCGCTCAGACCAGTGGCCATCTTCTGTGTGGGGGCCTGGGCGCCTGTGGCTGGGAGGCTGGGGCTGGATGAGGAAAGCCTCCAATGCTAGGTAGGATGGAGCCTCTGCTGCCCCAGCCAGTCCAGATGCAAGAACGCCATGGGCACAGGGGAGGCCATGATGCCCCGTTCTCCCTATCCAGCCCCAAGCCCAGTCACCGGGGAAGCATCCCTCATTTCCCTGCATCCCTGTCTGGATGGCGACAGTGACCAGGAGCGCCTTCAGCCTCTCCCAGCCTCCTCCAAAGCCTGGTCCCCTCTGGCCCACCCCATTGGCTCCTCTGCCCAGCCATGCCATGCCTCCCTCTTCCTCCCCCGAACTTCCCCTAAAGGCTACCACCACCCATGACTTCCCTCTTTCCTAGCCCCTGACCCAGGGTGTCAGCACTGCCCGCTATGGCAGCCCTGAGATGGCCCACAGTGGGAAGTACCTGTCTCAGCTCCAGGTCGGACATGGCCCTCTTGCCGCCCCTCGGGCAGTTCTGGAAGTAGCACGCGGAGGAGAAGGCCAGTAGGCCGAGGAAGCAGGCGGGCAGCATGGTGTCAGGCATCCTGGTGCACACAGGTGGACCCCGTATGCAGCACTGCTTGGTGGCTCTGTGCTGCTGCCTCTGCTGGCTGCCTATTTATGTCCGCAGGTGTTCCCGTGGAGGCGAGACGCGGCCGCCACCCCCTCCCCAGTGGCTCCCCAGGAGCCCACGGCCGCCAGGTCCCCAGCCGTCAGCAGTGATTCAGGCATCTGGGGACACACGTGGGCCTGTCTGTGCAGGGGATCATAGGGGAGGGGTACGGGCCGCCAGGCTGTCATGGGCCGCGGAATGACAGCAATTGCCTCTACTGTGACTGCAGCGCTCTGGATTCAGGGAGAGGGACAGACTGGGGGGTCACCTGGAGACCATCTCTGAGCTTTCTGATTACCCAGAAATGGCGTAGGGTCCAAGAAGAG
Task1_train_27616
This variant impacts the gene AVP (arginine vasopressin) on Chromosome 20. Is the change likely to result in a pathogenic outcome?
Pathogenic; AVP-related disorder
TAAATTCCTATTAGGTTTGGTCCTGCTCTAGCCCCAGCCAGATGGGGGATGGCCCTGAGTGGACAACATGAAACAGGAGCAGGAGGTCATGGCAGTGACCCAAGCCTGCATGGTCCCTGTCCCCACTGGCTAGACCCAGTCGTGCCGGGCACTGCCTGGCAGAGGAGCCCAGAACCAGGTCAGGGGTGAGAGCCAAGGGGAGCCCTGGGAGTGTGGAAGAGAGCCTGACCTTGACATGTGCCTGGACTCTGCCCAGGGCTGCTGAGGCTGGGCTGCTTGAGTCACCAGGCTTGGCCGTAAGCCTGGGCATTGGGGTCAGGGCCCAGGCGGACTTCCCTCCTCCTGCACTCCCTCCTGACCTCAGAGTTTGCGGAGGATCCCGAAGGAGATGCAGCCTCTTGTGGCTCCAAGACCTGGAGCAGGAAGCCCAAGGAGAGGATGCAGAGAAAAGAGGAGGCCAAGAGAGAGAAGGATGGGAGGTGGCAGAGGGGGTGAGGGGACAGAAGGGGAGGGGTGGAGGGGCCAAGGAGAGAGGCAAGAGGGGGCCCAGGAGCTGGCAGAACAGGGAGGCGAGAGCAGAGTGAGAGACAAAGGAGAGAAAGGGGCAGATGGGACCAGAAAGGCCTCAGGTTCAAGAAGGGGGTGAGAGAACCCAAGGGATGCAGAGGAAGAGGCCGAGCACTGCTGGACGTCTTTTCGCCAAAGGGGCTCATGTCAAAGGGCGGAAGGTCTTCATGTCTGGGAGCTAATGTGAGTGCACTCCTGCTTGTGTGAGCCTGTACATACATGCTCCTGCCCATCCTCGTGTCGGCTGTGTCTGTGTTTCTCTGGGTGTCTGTGGCTCTGAATGTGGGGCTCAGGGTCTCTGTGGTTGTGGTCAAGGGTTGCGGACACGTTCTTAGCAGTTATTTTCTTGTCTGTTTCTGTCCAAGCGTGCTTGGGGTTGTGTGGGGCTGTATCTGTTAGGGGTCCCCCACTCTGGCTGAGGGGCCCTAATGGTGGGTGCACTGGACAGACAGTGATGTCCCCACCGCCACTACACACGAGCACTGCCTTGGGTGAATCAGACATTGCACTGGGAATCCCGGGACCAGGGTGGGTCCCTGAGCGGTTTGTGTTTCAGTCTCCTGGGATGAAAATGGGGACAGAATGGTCACCCCTCGGCCTGTCCCCTCTGCCTCTCTCACTCTTCTCTCCGTCACTGTCAATGTCTCTGCATCTCTCTCCAACATTCTGCTGTCTCTGTCTCTGGGTCTCTTGCTGTCTTGTCCTCCAGGCCTTTCCCTCTCTGCCTTTACTTCTTTCCCTCTGCCGGAGGATCCTCAACCCACCCCCTCCAAGGCCACTCTCGGCCTCTGGTCTCCCCCTCCCCTGCCTCCCAATTCGCCCTGTCCCTCGGTCTAGCGACACCTCTGCGGGTCCCAGATCGCTTCCTCTACGGGACCTGTTGCTTCTCTGGGGTGGATCTGCCCACGACCTCAGGTCCGGGGACTGGCCGGTGGGCGTGGTGGCGGGGGTCCGCGCTCCCACCTCTCTCCCTTTCCCTCTTCCCGCCAGAGACTGAGACAGACGCGAGGCCGTGCATTGGCGGAGGTTTATTGTCCGTGCTGCAGGGGCGGGCGCGAAGAGCGCGCCGGTGGGGCGAGCGCGGGGCTCAGTAGGCGTCGGGCTGGGCGGGCTCGAAGGGCTCGGGCGCCCCGGCCAGCTGCACCAGCCGCAGCAGCAAGGCCCCGGCCGGCCCGTCCAGCTGCGTGGCGTTGCTCCGGTCGCTGGCGCGGGCGCGGCGGTGAAAGCCCTCGCGGCACTCGGGCTCGGTCACGCAGCTCTCTGCCGGGAGGACGTGTGAGCACGGGCGCCCTGGGGCGGGCGCAGCTCGGGGTGCGGGGGGCCCACACCCTCCCTGCCGGGCCCGACGCAGCCCCCACCCCGCCGCAGGCCCGCGTCCCCCCCACCCAAGCGGTCTGCGCCCCCCCCAGCCCCAGGCCCGCCCCCGCCGCGCACCGTCGTTGCAGCAAACGCCGAAGGCGGCGCAGCGGCCCCCGCTCCCGCACGCCTTCTGGCCGGACTGGCAGGGCGACGGCAGGTAGTTCTCCTCCTGGCAGCGCAGCGCCTCAGCCGTGCCCACGAAGCAGCCCAGCTCGTCCGCGCAGCAGATGCTGGGCCCGAAGCAGCGGCCTTTGCCCCCGGGGCCGCAGGGGAGGCACTGCGGGGACGGGCGGGGTGAGCGGGAGGAGGGGAGCCGGGAGTCGAGGGGTTGGAGGGGAACGCAGCGAGGCGGGGATGCTGGGGTCCAGGGCTCGGAGTGCGGGCGGGACACCGGGGCTGCGGCTGCAGGCACGCTCGGGCGCCACTGGGCCTCGACCGCGGTCACGGGCGGGGCGTCCAGATCTGCTCGGCACCTTGGTTTCTTGGATGACCTCTCGGTGACAGCCCTCAGCGTCCTCACCCTCAGCTAGGGACGGGTCTCCCGTGGACTACAGCGTGGGGAACCCTTCCTCGAGCCTCGGGGTCATCGCTGGTGGGCGCCACTGTTGCAGCTGCCCCACCCTCCACCACTCCAGACCCTTCCTCCTTCCTCCTCGCCCTGCTGCGGCTTGAGCCCGGGCCCACCCCCTTCCCCACTACACCATGCGGAGAGGCCCTACCCATCCAGAACCCCGGCCCTTCCCATTTCCTGTCTCCTCTCTTGCCTTGCCCCTGGCCCCCGCCAAGCTTGTCGGCCTCAGCTGGAGCCCTGACCCCTGCTCAGCCACCTATGACCTATCAGGTGGGTGGCAGGGGCCTGAGACCTAGAGGCGAGCACGGACACCCAGGTGCCTCAGGACCCTAAAGGAGCCTAGCAGGAGGAAGAGAGGCTGCGGGGGTTGCCGAGCGGCCACTCTCATCTGCTCAACAGCCGGTTCTCTGGCGCAATGGATAGCGCATTAGACTTTTAGCTGAGCCTGGTGTGGTCTAATTTGCTCAAGGGCTCATCATTGAGCCTGGACAGAATTGCATGCACATCGTGATTGGATTTCCTTCAGCTCTGCTGGAAATGGAGGAAACGTCCAGCACTATAGAATTAGGCCAGGTTCCCAGCAGAACTTCCCCACAGGATGCCCCACTCAAGCGCGCTCAGACCAGTGGCCATCTTCTGTGTGGGGGCCTGGGCGCCTGTGGCTGGGAGGCTGGGGCTGGATGAGGAAAGCCTCCAATGCTAGGTAGGATGGAGCCTCTGCTGCCCCAGCCAGTCCAGATGCAAGAACGCCATGGGCACAGGGGAGGCCATGATGCCCCGTTCTCCCTATCCAGCCCCAAGCCCAGTCACCGGGGAAGCATCCCTCATTTCCCTGCATCCCTGTCTGGATGGCGACAGTGACCAGGAGCGCCTTCAGCCTCTCCCAGCCTCCTCCAAAGCCTGGTCCCCTCTGGCCCACCCCATTGGCTCCTCTGCCCAGCCATGCCATGCCTCCCTCTTCCTCCCCCGAACTTCCCCTAAAGGCTACCACCACCCATGACTTCCCTCTTTCCTAGCCCCTGACCCAGGGTGTCAGCACTGCCCGCTATGGCAGCCCTGAGATGGCCCACAGTGGGAAGTACCTGTCTCAGCTCCAGGTCGGACATGGCCCTCTTGCCGCCCCTCGGGCAGTTCTGGAAGTAGCACGCGGAGGAGAAGGCCAGTAGGCCGAGGAAGCAGGCGGGCAGCATGGTGTCAGGCATCCTGGTGCACACAGGTGGACCCCGTATGCAGCACTGCTTGGTGGCTCTGTGCTGCTGCCTCTGCTGGCTGCCTATTTATGTCCGCAGGTGTTCCCGTGGAGGCGAGACGCGGCCGCCACCCCCTCCCCAGTGGCTCCCCAGGAGCCCACGGCCGCCAGGTCCCCAGCCGTCAGCAGTGATTCAGGCATCTGGGGACACACGTGGGCCTGTCTGTGCAGGGGATCATAGGGGAGGGGTACGGGCCGCCAGGCTGTCATGGGCCGCGGAATGACAGCAATTGCCTCTACTGTGACTGCAGCGCTCTGGATTCAGGGAGAGGGACAGACTGGGGGGTCACCTGGAGACCATCTCTGAGCTTTCTGATTACCCAGAAATGGCGTAGGGTCCAAGAAGAGGG
TAAATTCCTATTAGGTTTGGTCCTGCTCTAGCCCCAGCCAGATGGGGGATGGCCCTGAGTGGACAACATGAAACAGGAGCAGGAGGTCATGGCAGTGACCCAAGCCTGCATGGTCCCTGTCCCCACTGGCTAGACCCAGTCGTGCCGGGCACTGCCTGGCAGAGGAGCCCAGAACCAGGTCAGGGGTGAGAGCCAAGGGGAGCCCTGGGAGTGTGGAAGAGAGCCTGACCTTGACATGTGCCTGGACTCTGCCCAGGGCTGCTGAGGCTGGGCTGCTTGAGTCACCAGGCTTGGCCGTAAGCCTGGGCATTGGGGTCAGGGCCCAGGCGGACTTCCCTCCTCCTGCACTCCCTCCTGACCTCAGAGTTTGCGGAGGATCCCGAAGGAGATGCAGCCTCTTGTGGCTCCAAGACCTGGAGCAGGAAGCCCAAGGAGAGGATGCAGAGAAAAGAGGAGGCCAAGAGAGAGAAGGATGGGAGGTGGCAGAGGGGGTGAGGGGACAGAAGGGGAGGGGTGGAGGGGCCAAGGAGAGAGGCAAGAGGGGGCCCAGGAGCTGGCAGAACAGGGAGGCGAGAGCAGAGTGAGAGACAAAGGAGAGAAAGGGGCAGATGGGACCAGAAAGGCCTCAGGTTCAAGAAGGGGGTGAGAGAACCCAAGGGATGCAGAGGAAGAGGCCGAGCACTGCTGGACGTCTTTTCGCCAAAGGGGCTCATGTCAAAGGGCGGAAGGTCTTCATGTCTGGGAGCTAATGTGAGTGCACTCCTGCTTGTGTGAGCCTGTACATACATGCTCCTGCCCATCCTCGTGTCGGCTGTGTCTGTGTTTCTCTGGGTGTCTGTGGCTCTGAATGTGGGGCTCAGGGTCTCTGTGGTTGTGGTCAAGGGTTGCGGACACGTTCTTAGCAGTTATTTTCTTGTCTGTTTCTGTCCAAGCGTGCTTGGGGTTGTGTGGGGCTGTATCTGTTAGGGGTCCCCCACTCTGGCTGAGGGGCCCTAATGGTGGGTGCACTGGACAGACAGTGATGTCCCCACCGCCACTACACACGAGCACTGCCTTGGGTGAATCAGACATTGCACTGGGAATCCCGGGACCAGGGTGGGTCCCTGAGCGGTTTGTGTTTCAGTCTCCTGGGATGAAAATGGGGACAGAATGGTCACCCCTCGGCCTGTCCCCTCTGCCTCTCTCACTCTTCTCTCCGTCACTGTCAATGTCTCTGCATCTCTCTCCAACATTCTGCTGTCTCTGTCTCTGGGTCTCTTGCTGTCTTGTCCTCCAGGCCTTTCCCTCTCTGCCTTTACTTCTTTCCCTCTGCCGGAGGATCCTCAACCCACCCCCTCCAAGGCCACTCTCGGCCTCTGGTCTCCCCCTCCCCTGCCTCCCAATTCGCCCTGTCCCTCGGTCTAGCGACACCTCTGCGGGTCCCAGATCGCTTCCTCTACGGGACCTGTTGCTTCTCTGGGGTGGATCTGCCCACGACCTCAGGTCCGGGGACTGGCCGGTGGGCGTGGTGGCGGGGGTCCGCGCTCCCACCTCTCTCCCTTTCCCTCTTCCCGCCAGAGACTGAGACAGACGCGAGGCCGTGCATTGGCGGAGGTTTATTGTCCGTGCTGCAGGGGCGGGCGCGAAGAGCGCGCCGGTGGGGCGAGCGCGGGGCTCAGTAGGCGTCGGGCTGGGCGGGCTCGAAGGGCTCGGGCGCCCCGGCCAGCTGCACCAGCCGCAGCAGCAAGGCCCCGGCCGGCCCGTCCAGCTGCGTGGCGTTGCTCCGGTCGCTGGCGCGGGCGCGGCGGTGAAAGCCCTCGCGGCACTCGGGCTCGGTCACGCAGCTCTCTGCCGGGAGGACGTGTGAGCACGGGCGCCCTGGGGCGGGCGCAGCTCGGGGTGCGGGGGGCCCACACCCTCCCTGCCGGGCCCGACGCAGCCCCCACCCCGCCGCAGGCCCGCGTCCCCCCCACCCAAGCGGTCTGCGCCCCCCCCAGCCCCAGGCCCGCCCCCGCCGCGCACCGTCGTTGCAGCAAACGCCGAAGGCGGCGCAGCGGCCCCCGCTCCCGTACGCCTTCTGGCCGGACTGGCAGGGCGACGGCAGGTAGTTCTCCTCCTGGCAGCGCAGCGCCTCAGCCGTGCCCACGAAGCAGCCCAGCTCGTCCGCGCAGCAGATGCTGGGCCCGAAGCAGCGGCCTTTGCCCCCGGGGCCGCAGGGGAGGCACTGCGGGGACGGGCGGGGTGAGCGGGAGGAGGGGAGCCGGGAGTCGAGGGGTTGGAGGGGAACGCAGCGAGGCGGGGATGCTGGGGTCCAGGGCTCGGAGTGCGGGCGGGACACCGGGGCTGCGGCTGCAGGCACGCTCGGGCGCCACTGGGCCTCGACCGCGGTCACGGGCGGGGCGTCCAGATCTGCTCGGCACCTTGGTTTCTTGGATGACCTCTCGGTGACAGCCCTCAGCGTCCTCACCCTCAGCTAGGGACGGGTCTCCCGTGGACTACAGCGTGGGGAACCCTTCCTCGAGCCTCGGGGTCATCGCTGGTGGGCGCCACTGTTGCAGCTGCCCCACCCTCCACCACTCCAGACCCTTCCTCCTTCCTCCTCGCCCTGCTGCGGCTTGAGCCCGGGCCCACCCCCTTCCCCACTACACCATGCGGAGAGGCCCTACCCATCCAGAACCCCGGCCCTTCCCATTTCCTGTCTCCTCTCTTGCCTTGCCCCTGGCCCCCGCCAAGCTTGTCGGCCTCAGCTGGAGCCCTGACCCCTGCTCAGCCACCTATGACCTATCAGGTGGGTGGCAGGGGCCTGAGACCTAGAGGCGAGCACGGACACCCAGGTGCCTCAGGACCCTAAAGGAGCCTAGCAGGAGGAAGAGAGGCTGCGGGGGTTGCCGAGCGGCCACTCTCATCTGCTCAACAGCCGGTTCTCTGGCGCAATGGATAGCGCATTAGACTTTTAGCTGAGCCTGGTGTGGTCTAATTTGCTCAAGGGCTCATCATTGAGCCTGGACAGAATTGCATGCACATCGTGATTGGATTTCCTTCAGCTCTGCTGGAAATGGAGGAAACGTCCAGCACTATAGAATTAGGCCAGGTTCCCAGCAGAACTTCCCCACAGGATGCCCCACTCAAGCGCGCTCAGACCAGTGGCCATCTTCTGTGTGGGGGCCTGGGCGCCTGTGGCTGGGAGGCTGGGGCTGGATGAGGAAAGCCTCCAATGCTAGGTAGGATGGAGCCTCTGCTGCCCCAGCCAGTCCAGATGCAAGAACGCCATGGGCACAGGGGAGGCCATGATGCCCCGTTCTCCCTATCCAGCCCCAAGCCCAGTCACCGGGGAAGCATCCCTCATTTCCCTGCATCCCTGTCTGGATGGCGACAGTGACCAGGAGCGCCTTCAGCCTCTCCCAGCCTCCTCCAAAGCCTGGTCCCCTCTGGCCCACCCCATTGGCTCCTCTGCCCAGCCATGCCATGCCTCCCTCTTCCTCCCCCGAACTTCCCCTAAAGGCTACCACCACCCATGACTTCCCTCTTTCCTAGCCCCTGACCCAGGGTGTCAGCACTGCCCGCTATGGCAGCCCTGAGATGGCCCACAGTGGGAAGTACCTGTCTCAGCTCCAGGTCGGACATGGCCCTCTTGCCGCCCCTCGGGCAGTTCTGGAAGTAGCACGCGGAGGAGAAGGCCAGTAGGCCGAGGAAGCAGGCGGGCAGCATGGTGTCAGGCATCCTGGTGCACACAGGTGGACCCCGTATGCAGCACTGCTTGGTGGCTCTGTGCTGCTGCCTCTGCTGGCTGCCTATTTATGTCCGCAGGTGTTCCCGTGGAGGCGAGACGCGGCCGCCACCCCCTCCCCAGTGGCTCCCCAGGAGCCCACGGCCGCCAGGTCCCCAGCCGTCAGCAGTGATTCAGGCATCTGGGGACACACGTGGGCCTGTCTGTGCAGGGGATCATAGGGGAGGGGTACGGGCCGCCAGGCTGTCATGGGCCGCGGAATGACAGCAATTGCCTCTACTGTGACTGCAGCGCTCTGGATTCAGGGAGAGGGACAGACTGGGGGGTCACCTGGAGACCATCTCTGAGCTTTCTGATTACCCAGAAATGGCGTAGGGTCCAAGAAGAGGG
Task1_train_27617
A variant found in Chromosome 20 affects AVP (arginine vasopressin). Please analyze its biological impact: is it benign or pathogenic, and what condition might it cause?
Pathogenic; Neurohypophyseal diabetes insipidus
GGTTTGGTCCTGCTCTAGCCCCAGCCAGATGGGGGATGGCCCTGAGTGGACAACATGAAACAGGAGCAGGAGGTCATGGCAGTGACCCAAGCCTGCATGGTCCCTGTCCCCACTGGCTAGACCCAGTCGTGCCGGGCACTGCCTGGCAGAGGAGCCCAGAACCAGGTCAGGGGTGAGAGCCAAGGGGAGCCCTGGGAGTGTGGAAGAGAGCCTGACCTTGACATGTGCCTGGACTCTGCCCAGGGCTGCTGAGGCTGGGCTGCTTGAGTCACCAGGCTTGGCCGTAAGCCTGGGCATTGGGGTCAGGGCCCAGGCGGACTTCCCTCCTCCTGCACTCCCTCCTGACCTCAGAGTTTGCGGAGGATCCCGAAGGAGATGCAGCCTCTTGTGGCTCCAAGACCTGGAGCAGGAAGCCCAAGGAGAGGATGCAGAGAAAAGAGGAGGCCAAGAGAGAGAAGGATGGGAGGTGGCAGAGGGGGTGAGGGGACAGAAGGGGAGGGGTGGAGGGGCCAAGGAGAGAGGCAAGAGGGGGCCCAGGAGCTGGCAGAACAGGGAGGCGAGAGCAGAGTGAGAGACAAAGGAGAGAAAGGGGCAGATGGGACCAGAAAGGCCTCAGGTTCAAGAAGGGGGTGAGAGAACCCAAGGGATGCAGAGGAAGAGGCCGAGCACTGCTGGACGTCTTTTCGCCAAAGGGGCTCATGTCAAAGGGCGGAAGGTCTTCATGTCTGGGAGCTAATGTGAGTGCACTCCTGCTTGTGTGAGCCTGTACATACATGCTCCTGCCCATCCTCGTGTCGGCTGTGTCTGTGTTTCTCTGGGTGTCTGTGGCTCTGAATGTGGGGCTCAGGGTCTCTGTGGTTGTGGTCAAGGGTTGCGGACACGTTCTTAGCAGTTATTTTCTTGTCTGTTTCTGTCCAAGCGTGCTTGGGGTTGTGTGGGGCTGTATCTGTTAGGGGTCCCCCACTCTGGCTGAGGGGCCCTAATGGTGGGTGCACTGGACAGACAGTGATGTCCCCACCGCCACTACACACGAGCACTGCCTTGGGTGAATCAGACATTGCACTGGGAATCCCGGGACCAGGGTGGGTCCCTGAGCGGTTTGTGTTTCAGTCTCCTGGGATGAAAATGGGGACAGAATGGTCACCCCTCGGCCTGTCCCCTCTGCCTCTCTCACTCTTCTCTCCGTCACTGTCAATGTCTCTGCATCTCTCTCCAACATTCTGCTGTCTCTGTCTCTGGGTCTCTTGCTGTCTTGTCCTCCAGGCCTTTCCCTCTCTGCCTTTACTTCTTTCCCTCTGCCGGAGGATCCTCAACCCACCCCCTCCAAGGCCACTCTCGGCCTCTGGTCTCCCCCTCCCCTGCCTCCCAATTCGCCCTGTCCCTCGGTCTAGCGACACCTCTGCGGGTCCCAGATCGCTTCCTCTACGGGACCTGTTGCTTCTCTGGGGTGGATCTGCCCACGACCTCAGGTCCGGGGACTGGCCGGTGGGCGTGGTGGCGGGGGTCCGCGCTCCCACCTCTCTCCCTTTCCCTCTTCCCGCCAGAGACTGAGACAGACGCGAGGCCGTGCATTGGCGGAGGTTTATTGTCCGTGCTGCAGGGGCGGGCGCGAAGAGCGCGCCGGTGGGGCGAGCGCGGGGCTCAGTAGGCGTCGGGCTGGGCGGGCTCGAAGGGCTCGGGCGCCCCGGCCAGCTGCACCAGCCGCAGCAGCAAGGCCCCGGCCGGCCCGTCCAGCTGCGTGGCGTTGCTCCGGTCGCTGGCGCGGGCGCGGCGGTGAAAGCCCTCGCGGCACTCGGGCTCGGTCACGCAGCTCTCTGCCGGGAGGACGTGTGAGCACGGGCGCCCTGGGGCGGGCGCAGCTCGGGGTGCGGGGGGCCCACACCCTCCCTGCCGGGCCCGACGCAGCCCCCACCCCGCCGCAGGCCCGCGTCCCCCCCACCCAAGCGGTCTGCGCCCCCCCCAGCCCCAGGCCCGCCCCCGCCGCGCACCGTCGTTGCAGCAAACGCCGAAGGCGGCGCAGCGGCCCCCGCTCCCGCACGCCTTCTGGCCGGACTGGCAGGGCGACGGCAGGTAGTTCTCCTCCTGGCAGCGCAGCGCCTCAGCCGTGCCCACGAAGCAGCCCAGCTCGTCCGCGCAGCAGATGCTGGGCCCGAAGCAGCGGCCTTTGCCCCCGGGGCCGCAGGGGAGGCACTGCGGGGACGGGCGGGGTGAGCGGGAGGAGGGGAGCCGGGAGTCGAGGGGTTGGAGGGGAACGCAGCGAGGCGGGGATGCTGGGGTCCAGGGCTCGGAGTGCGGGCGGGACACCGGGGCTGCGGCTGCAGGCACGCTCGGGCGCCACTGGGCCTCGACCGCGGTCACGGGCGGGGCGTCCAGATCTGCTCGGCACCTTGGTTTCTTGGATGACCTCTCGGTGACAGCCCTCAGCGTCCTCACCCTCAGCTAGGGACGGGTCTCCCGTGGACTACAGCGTGGGGAACCCTTCCTCGAGCCTCGGGGTCATCGCTGGTGGGCGCCACTGTTGCAGCTGCCCCACCCTCCACCACTCCAGACCCTTCCTCCTTCCTCCTCGCCCTGCTGCGGCTTGAGCCCGGGCCCACCCCCTTCCCCACTACACCATGCGGAGAGGCCCTACCCATCCAGAACCCCGGCCCTTCCCATTTCCTGTCTCCTCTCTTGCCTTGCCCCTGGCCCCCGCCAAGCTTGTCGGCCTCAGCTGGAGCCCTGACCCCTGCTCAGCCACCTATGACCTATCAGGTGGGTGGCAGGGGCCTGAGACCTAGAGGCGAGCACGGACACCCAGGTGCCTCAGGACCCTAAAGGAGCCTAGCAGGAGGAAGAGAGGCTGCGGGGGTTGCCGAGCGGCCACTCTCATCTGCTCAACAGCCGGTTCTCTGGCGCAATGGATAGCGCATTAGACTTTTAGCTGAGCCTGGTGTGGTCTAATTTGCTCAAGGGCTCATCATTGAGCCTGGACAGAATTGCATGCACATCGTGATTGGATTTCCTTCAGCTCTGCTGGAAATGGAGGAAACGTCCAGCACTATAGAATTAGGCCAGGTTCCCAGCAGAACTTCCCCACAGGATGCCCCACTCAAGCGCGCTCAGACCAGTGGCCATCTTCTGTGTGGGGGCCTGGGCGCCTGTGGCTGGGAGGCTGGGGCTGGATGAGGAAAGCCTCCAATGCTAGGTAGGATGGAGCCTCTGCTGCCCCAGCCAGTCCAGATGCAAGAACGCCATGGGCACAGGGGAGGCCATGATGCCCCGTTCTCCCTATCCAGCCCCAAGCCCAGTCACCGGGGAAGCATCCCTCATTTCCCTGCATCCCTGTCTGGATGGCGACAGTGACCAGGAGCGCCTTCAGCCTCTCCCAGCCTCCTCCAAAGCCTGGTCCCCTCTGGCCCACCCCATTGGCTCCTCTGCCCAGCCATGCCATGCCTCCCTCTTCCTCCCCCGAACTTCCCCTAAAGGCTACCACCACCCATGACTTCCCTCTTTCCTAGCCCCTGACCCAGGGTGTCAGCACTGCCCGCTATGGCAGCCCTGAGATGGCCCACAGTGGGAAGTACCTGTCTCAGCTCCAGGTCGGACATGGCCCTCTTGCCGCCCCTCGGGCAGTTCTGGAAGTAGCACGCGGAGGAGAAGGCCAGTAGGCCGAGGAAGCAGGCGGGCAGCATGGTGTCAGGCATCCTGGTGCACACAGGTGGACCCCGTATGCAGCACTGCTTGGTGGCTCTGTGCTGCTGCCTCTGCTGGCTGCCTATTTATGTCCGCAGGTGTTCCCGTGGAGGCGAGACGCGGCCGCCACCCCCTCCCCAGTGGCTCCCCAGGAGCCCACGGCCGCCAGGTCCCCAGCCGTCAGCAGTGATTCAGGCATCTGGGGACACACGTGGGCCTGTCTGTGCAGGGGATCATAGGGGAGGGGTACGGGCCGCCAGGCTGTCATGGGCCGCGGAATGACAGCAATTGCCTCTACTGTGACTGCAGCGCTCTGGATTCAGGGAGAGGGACAGACTGGGGGGTCACCTGGAGACCATCTCTGAGCTTTCTGATTACCCAGAAATGGCGTAGGGTCCAAGAAGAGGGTAAGAGGAACCGA
GGTTTGGTCCTGCTCTAGCCCCAGCCAGATGGGGGATGGCCCTGAGTGGACAACATGAAACAGGAGCAGGAGGTCATGGCAGTGACCCAAGCCTGCATGGTCCCTGTCCCCACTGGCTAGACCCAGTCGTGCCGGGCACTGCCTGGCAGAGGAGCCCAGAACCAGGTCAGGGGTGAGAGCCAAGGGGAGCCCTGGGAGTGTGGAAGAGAGCCTGACCTTGACATGTGCCTGGACTCTGCCCAGGGCTGCTGAGGCTGGGCTGCTTGAGTCACCAGGCTTGGCCGTAAGCCTGGGCATTGGGGTCAGGGCCCAGGCGGACTTCCCTCCTCCTGCACTCCCTCCTGACCTCAGAGTTTGCGGAGGATCCCGAAGGAGATGCAGCCTCTTGTGGCTCCAAGACCTGGAGCAGGAAGCCCAAGGAGAGGATGCAGAGAAAAGAGGAGGCCAAGAGAGAGAAGGATGGGAGGTGGCAGAGGGGGTGAGGGGACAGAAGGGGAGGGGTGGAGGGGCCAAGGAGAGAGGCAAGAGGGGGCCCAGGAGCTGGCAGAACAGGGAGGCGAGAGCAGAGTGAGAGACAAAGGAGAGAAAGGGGCAGATGGGACCAGAAAGGCCTCAGGTTCAAGAAGGGGGTGAGAGAACCCAAGGGATGCAGAGGAAGAGGCCGAGCACTGCTGGACGTCTTTTCGCCAAAGGGGCTCATGTCAAAGGGCGGAAGGTCTTCATGTCTGGGAGCTAATGTGAGTGCACTCCTGCTTGTGTGAGCCTGTACATACATGCTCCTGCCCATCCTCGTGTCGGCTGTGTCTGTGTTTCTCTGGGTGTCTGTGGCTCTGAATGTGGGGCTCAGGGTCTCTGTGGTTGTGGTCAAGGGTTGCGGACACGTTCTTAGCAGTTATTTTCTTGTCTGTTTCTGTCCAAGCGTGCTTGGGGTTGTGTGGGGCTGTATCTGTTAGGGGTCCCCCACTCTGGCTGAGGGGCCCTAATGGTGGGTGCACTGGACAGACAGTGATGTCCCCACCGCCACTACACACGAGCACTGCCTTGGGTGAATCAGACATTGCACTGGGAATCCCGGGACCAGGGTGGGTCCCTGAGCGGTTTGTGTTTCAGTCTCCTGGGATGAAAATGGGGACAGAATGGTCACCCCTCGGCCTGTCCCCTCTGCCTCTCTCACTCTTCTCTCCGTCACTGTCAATGTCTCTGCATCTCTCTCCAACATTCTGCTGTCTCTGTCTCTGGGTCTCTTGCTGTCTTGTCCTCCAGGCCTTTCCCTCTCTGCCTTTACTTCTTTCCCTCTGCCGGAGGATCCTCAACCCACCCCCTCCAAGGCCACTCTCGGCCTCTGGTCTCCCCCTCCCCTGCCTCCCAATTCGCCCTGTCCCTCGGTCTAGCGACACCTCTGCGGGTCCCAGATCGCTTCCTCTACGGGACCTGTTGCTTCTCTGGGGTGGATCTGCCCACGACCTCAGGTCCGGGGACTGGCCGGTGGGCGTGGTGGCGGGGGTCCGCGCTCCCACCTCTCTCCCTTTCCCTCTTCCCGCCAGAGACTGAGACAGACGCGAGGCCGTGCATTGGCGGAGGTTTATTGTCCGTGCTGCAGGGGCGGGCGCGAAGAGCGCGCCGGTGGGGCGAGCGCGGGGCTCAGTAGGCGTCGGGCTGGGCGGGCTCGAAGGGCTCGGGCGCCCCGGCCAGCTGCACCAGCCGCAGCAGCAAGGCCCCGGCCGGCCCGTCCAGCTGCGTGGCGTTGCTCCGGTCGCTGGCGCGGGCGCGGCGGTGAAAGCCCTCGCGGCACTCGGGCTCGGTCACGCAGCTCTCTGCCGGGAGGACGTGTGAGCACGGGCGCCCTGGGGCGGGCGCAGCTCGGGGTGCGGGGGGCCCACACCCTCCCTGCCGGGCCCGACGCAGCCCCCACCCCGCCGCAGGCCCGCGTCCCCCCCACCCAAGCGGTCTGCGCCCCCCCCAGCCCCAGGCCCGCCCCCGCCGCGCACCGTCGTTGCAGCAAACGCCGAAGGCGGCGCAGCGGCCCCCGCTCCCGCACGCCTTCTGGCTGGACTGGCAGGGCGACGGCAGGTAGTTCTCCTCCTGGCAGCGCAGCGCCTCAGCCGTGCCCACGAAGCAGCCCAGCTCGTCCGCGCAGCAGATGCTGGGCCCGAAGCAGCGGCCTTTGCCCCCGGGGCCGCAGGGGAGGCACTGCGGGGACGGGCGGGGTGAGCGGGAGGAGGGGAGCCGGGAGTCGAGGGGTTGGAGGGGAACGCAGCGAGGCGGGGATGCTGGGGTCCAGGGCTCGGAGTGCGGGCGGGACACCGGGGCTGCGGCTGCAGGCACGCTCGGGCGCCACTGGGCCTCGACCGCGGTCACGGGCGGGGCGTCCAGATCTGCTCGGCACCTTGGTTTCTTGGATGACCTCTCGGTGACAGCCCTCAGCGTCCTCACCCTCAGCTAGGGACGGGTCTCCCGTGGACTACAGCGTGGGGAACCCTTCCTCGAGCCTCGGGGTCATCGCTGGTGGGCGCCACTGTTGCAGCTGCCCCACCCTCCACCACTCCAGACCCTTCCTCCTTCCTCCTCGCCCTGCTGCGGCTTGAGCCCGGGCCCACCCCCTTCCCCACTACACCATGCGGAGAGGCCCTACCCATCCAGAACCCCGGCCCTTCCCATTTCCTGTCTCCTCTCTTGCCTTGCCCCTGGCCCCCGCCAAGCTTGTCGGCCTCAGCTGGAGCCCTGACCCCTGCTCAGCCACCTATGACCTATCAGGTGGGTGGCAGGGGCCTGAGACCTAGAGGCGAGCACGGACACCCAGGTGCCTCAGGACCCTAAAGGAGCCTAGCAGGAGGAAGAGAGGCTGCGGGGGTTGCCGAGCGGCCACTCTCATCTGCTCAACAGCCGGTTCTCTGGCGCAATGGATAGCGCATTAGACTTTTAGCTGAGCCTGGTGTGGTCTAATTTGCTCAAGGGCTCATCATTGAGCCTGGACAGAATTGCATGCACATCGTGATTGGATTTCCTTCAGCTCTGCTGGAAATGGAGGAAACGTCCAGCACTATAGAATTAGGCCAGGTTCCCAGCAGAACTTCCCCACAGGATGCCCCACTCAAGCGCGCTCAGACCAGTGGCCATCTTCTGTGTGGGGGCCTGGGCGCCTGTGGCTGGGAGGCTGGGGCTGGATGAGGAAAGCCTCCAATGCTAGGTAGGATGGAGCCTCTGCTGCCCCAGCCAGTCCAGATGCAAGAACGCCATGGGCACAGGGGAGGCCATGATGCCCCGTTCTCCCTATCCAGCCCCAAGCCCAGTCACCGGGGAAGCATCCCTCATTTCCCTGCATCCCTGTCTGGATGGCGACAGTGACCAGGAGCGCCTTCAGCCTCTCCCAGCCTCCTCCAAAGCCTGGTCCCCTCTGGCCCACCCCATTGGCTCCTCTGCCCAGCCATGCCATGCCTCCCTCTTCCTCCCCCGAACTTCCCCTAAAGGCTACCACCACCCATGACTTCCCTCTTTCCTAGCCCCTGACCCAGGGTGTCAGCACTGCCCGCTATGGCAGCCCTGAGATGGCCCACAGTGGGAAGTACCTGTCTCAGCTCCAGGTCGGACATGGCCCTCTTGCCGCCCCTCGGGCAGTTCTGGAAGTAGCACGCGGAGGAGAAGGCCAGTAGGCCGAGGAAGCAGGCGGGCAGCATGGTGTCAGGCATCCTGGTGCACACAGGTGGACCCCGTATGCAGCACTGCTTGGTGGCTCTGTGCTGCTGCCTCTGCTGGCTGCCTATTTATGTCCGCAGGTGTTCCCGTGGAGGCGAGACGCGGCCGCCACCCCCTCCCCAGTGGCTCCCCAGGAGCCCACGGCCGCCAGGTCCCCAGCCGTCAGCAGTGATTCAGGCATCTGGGGACACACGTGGGCCTGTCTGTGCAGGGGATCATAGGGGAGGGGTACGGGCCGCCAGGCTGTCATGGGCCGCGGAATGACAGCAATTGCCTCTACTGTGACTGCAGCGCTCTGGATTCAGGGAGAGGGACAGACTGGGGGGTCACCTGGAGACCATCTCTGAGCTTTCTGATTACCCAGAAATGGCGTAGGGTCCAAGAAGAGGGTAAGAGGAACCGA
Task1_train_27618
Chromosome 20 houses a mutation in gene AVP (arginine vasopressin). Classify its clinical impact — is it pathogenic or benign, and what disease does it lead to if any?
Pathogenic; not provided
TTTGGTCCTGCTCTAGCCCCAGCCAGATGGGGGATGGCCCTGAGTGGACAACATGAAACAGGAGCAGGAGGTCATGGCAGTGACCCAAGCCTGCATGGTCCCTGTCCCCACTGGCTAGACCCAGTCGTGCCGGGCACTGCCTGGCAGAGGAGCCCAGAACCAGGTCAGGGGTGAGAGCCAAGGGGAGCCCTGGGAGTGTGGAAGAGAGCCTGACCTTGACATGTGCCTGGACTCTGCCCAGGGCTGCTGAGGCTGGGCTGCTTGAGTCACCAGGCTTGGCCGTAAGCCTGGGCATTGGGGTCAGGGCCCAGGCGGACTTCCCTCCTCCTGCACTCCCTCCTGACCTCAGAGTTTGCGGAGGATCCCGAAGGAGATGCAGCCTCTTGTGGCTCCAAGACCTGGAGCAGGAAGCCCAAGGAGAGGATGCAGAGAAAAGAGGAGGCCAAGAGAGAGAAGGATGGGAGGTGGCAGAGGGGGTGAGGGGACAGAAGGGGAGGGGTGGAGGGGCCAAGGAGAGAGGCAAGAGGGGGCCCAGGAGCTGGCAGAACAGGGAGGCGAGAGCAGAGTGAGAGACAAAGGAGAGAAAGGGGCAGATGGGACCAGAAAGGCCTCAGGTTCAAGAAGGGGGTGAGAGAACCCAAGGGATGCAGAGGAAGAGGCCGAGCACTGCTGGACGTCTTTTCGCCAAAGGGGCTCATGTCAAAGGGCGGAAGGTCTTCATGTCTGGGAGCTAATGTGAGTGCACTCCTGCTTGTGTGAGCCTGTACATACATGCTCCTGCCCATCCTCGTGTCGGCTGTGTCTGTGTTTCTCTGGGTGTCTGTGGCTCTGAATGTGGGGCTCAGGGTCTCTGTGGTTGTGGTCAAGGGTTGCGGACACGTTCTTAGCAGTTATTTTCTTGTCTGTTTCTGTCCAAGCGTGCTTGGGGTTGTGTGGGGCTGTATCTGTTAGGGGTCCCCCACTCTGGCTGAGGGGCCCTAATGGTGGGTGCACTGGACAGACAGTGATGTCCCCACCGCCACTACACACGAGCACTGCCTTGGGTGAATCAGACATTGCACTGGGAATCCCGGGACCAGGGTGGGTCCCTGAGCGGTTTGTGTTTCAGTCTCCTGGGATGAAAATGGGGACAGAATGGTCACCCCTCGGCCTGTCCCCTCTGCCTCTCTCACTCTTCTCTCCGTCACTGTCAATGTCTCTGCATCTCTCTCCAACATTCTGCTGTCTCTGTCTCTGGGTCTCTTGCTGTCTTGTCCTCCAGGCCTTTCCCTCTCTGCCTTTACTTCTTTCCCTCTGCCGGAGGATCCTCAACCCACCCCCTCCAAGGCCACTCTCGGCCTCTGGTCTCCCCCTCCCCTGCCTCCCAATTCGCCCTGTCCCTCGGTCTAGCGACACCTCTGCGGGTCCCAGATCGCTTCCTCTACGGGACCTGTTGCTTCTCTGGGGTGGATCTGCCCACGACCTCAGGTCCGGGGACTGGCCGGTGGGCGTGGTGGCGGGGGTCCGCGCTCCCACCTCTCTCCCTTTCCCTCTTCCCGCCAGAGACTGAGACAGACGCGAGGCCGTGCATTGGCGGAGGTTTATTGTCCGTGCTGCAGGGGCGGGCGCGAAGAGCGCGCCGGTGGGGCGAGCGCGGGGCTCAGTAGGCGTCGGGCTGGGCGGGCTCGAAGGGCTCGGGCGCCCCGGCCAGCTGCACCAGCCGCAGCAGCAAGGCCCCGGCCGGCCCGTCCAGCTGCGTGGCGTTGCTCCGGTCGCTGGCGCGGGCGCGGCGGTGAAAGCCCTCGCGGCACTCGGGCTCGGTCACGCAGCTCTCTGCCGGGAGGACGTGTGAGCACGGGCGCCCTGGGGCGGGCGCAGCTCGGGGTGCGGGGGGCCCACACCCTCCCTGCCGGGCCCGACGCAGCCCCCACCCCGCCGCAGGCCCGCGTCCCCCCCACCCAAGCGGTCTGCGCCCCCCCCAGCCCCAGGCCCGCCCCCGCCGCGCACCGTCGTTGCAGCAAACGCCGAAGGCGGCGCAGCGGCCCCCGCTCCCGCACGCCTTCTGGCCGGACTGGCAGGGCGACGGCAGGTAGTTCTCCTCCTGGCAGCGCAGCGCCTCAGCCGTGCCCACGAAGCAGCCCAGCTCGTCCGCGCAGCAGATGCTGGGCCCGAAGCAGCGGCCTTTGCCCCCGGGGCCGCAGGGGAGGCACTGCGGGGACGGGCGGGGTGAGCGGGAGGAGGGGAGCCGGGAGTCGAGGGGTTGGAGGGGAACGCAGCGAGGCGGGGATGCTGGGGTCCAGGGCTCGGAGTGCGGGCGGGACACCGGGGCTGCGGCTGCAGGCACGCTCGGGCGCCACTGGGCCTCGACCGCGGTCACGGGCGGGGCGTCCAGATCTGCTCGGCACCTTGGTTTCTTGGATGACCTCTCGGTGACAGCCCTCAGCGTCCTCACCCTCAGCTAGGGACGGGTCTCCCGTGGACTACAGCGTGGGGAACCCTTCCTCGAGCCTCGGGGTCATCGCTGGTGGGCGCCACTGTTGCAGCTGCCCCACCCTCCACCACTCCAGACCCTTCCTCCTTCCTCCTCGCCCTGCTGCGGCTTGAGCCCGGGCCCACCCCCTTCCCCACTACACCATGCGGAGAGGCCCTACCCATCCAGAACCCCGGCCCTTCCCATTTCCTGTCTCCTCTCTTGCCTTGCCCCTGGCCCCCGCCAAGCTTGTCGGCCTCAGCTGGAGCCCTGACCCCTGCTCAGCCACCTATGACCTATCAGGTGGGTGGCAGGGGCCTGAGACCTAGAGGCGAGCACGGACACCCAGGTGCCTCAGGACCCTAAAGGAGCCTAGCAGGAGGAAGAGAGGCTGCGGGGGTTGCCGAGCGGCCACTCTCATCTGCTCAACAGCCGGTTCTCTGGCGCAATGGATAGCGCATTAGACTTTTAGCTGAGCCTGGTGTGGTCTAATTTGCTCAAGGGCTCATCATTGAGCCTGGACAGAATTGCATGCACATCGTGATTGGATTTCCTTCAGCTCTGCTGGAAATGGAGGAAACGTCCAGCACTATAGAATTAGGCCAGGTTCCCAGCAGAACTTCCCCACAGGATGCCCCACTCAAGCGCGCTCAGACCAGTGGCCATCTTCTGTGTGGGGGCCTGGGCGCCTGTGGCTGGGAGGCTGGGGCTGGATGAGGAAAGCCTCCAATGCTAGGTAGGATGGAGCCTCTGCTGCCCCAGCCAGTCCAGATGCAAGAACGCCATGGGCACAGGGGAGGCCATGATGCCCCGTTCTCCCTATCCAGCCCCAAGCCCAGTCACCGGGGAAGCATCCCTCATTTCCCTGCATCCCTGTCTGGATGGCGACAGTGACCAGGAGCGCCTTCAGCCTCTCCCAGCCTCCTCCAAAGCCTGGTCCCCTCTGGCCCACCCCATTGGCTCCTCTGCCCAGCCATGCCATGCCTCCCTCTTCCTCCCCCGAACTTCCCCTAAAGGCTACCACCACCCATGACTTCCCTCTTTCCTAGCCCCTGACCCAGGGTGTCAGCACTGCCCGCTATGGCAGCCCTGAGATGGCCCACAGTGGGAAGTACCTGTCTCAGCTCCAGGTCGGACATGGCCCTCTTGCCGCCCCTCGGGCAGTTCTGGAAGTAGCACGCGGAGGAGAAGGCCAGTAGGCCGAGGAAGCAGGCGGGCAGCATGGTGTCAGGCATCCTGGTGCACACAGGTGGACCCCGTATGCAGCACTGCTTGGTGGCTCTGTGCTGCTGCCTCTGCTGGCTGCCTATTTATGTCCGCAGGTGTTCCCGTGGAGGCGAGACGCGGCCGCCACCCCCTCCCCAGTGGCTCCCCAGGAGCCCACGGCCGCCAGGTCCCCAGCCGTCAGCAGTGATTCAGGCATCTGGGGACACACGTGGGCCTGTCTGTGCAGGGGATCATAGGGGAGGGGTACGGGCCGCCAGGCTGTCATGGGCCGCGGAATGACAGCAATTGCCTCTACTGTGACTGCAGCGCTCTGGATTCAGGGAGAGGGACAGACTGGGGGGTCACCTGGAGACCATCTCTGAGCTTTCTGATTACCCAGAAATGGCGTAGGGTCCAAGAAGAGGGTAAGAGGAACCGAGG
TTTGGTCCTGCTCTAGCCCCAGCCAGATGGGGGATGGCCCTGAGTGGACAACATGAAACAGGAGCAGGAGGTCATGGCAGTGACCCAAGCCTGCATGGTCCCTGTCCCCACTGGCTAGACCCAGTCGTGCCGGGCACTGCCTGGCAGAGGAGCCCAGAACCAGGTCAGGGGTGAGAGCCAAGGGGAGCCCTGGGAGTGTGGAAGAGAGCCTGACCTTGACATGTGCCTGGACTCTGCCCAGGGCTGCTGAGGCTGGGCTGCTTGAGTCACCAGGCTTGGCCGTAAGCCTGGGCATTGGGGTCAGGGCCCAGGCGGACTTCCCTCCTCCTGCACTCCCTCCTGACCTCAGAGTTTGCGGAGGATCCCGAAGGAGATGCAGCCTCTTGTGGCTCCAAGACCTGGAGCAGGAAGCCCAAGGAGAGGATGCAGAGAAAAGAGGAGGCCAAGAGAGAGAAGGATGGGAGGTGGCAGAGGGGGTGAGGGGACAGAAGGGGAGGGGTGGAGGGGCCAAGGAGAGAGGCAAGAGGGGGCCCAGGAGCTGGCAGAACAGGGAGGCGAGAGCAGAGTGAGAGACAAAGGAGAGAAAGGGGCAGATGGGACCAGAAAGGCCTCAGGTTCAAGAAGGGGGTGAGAGAACCCAAGGGATGCAGAGGAAGAGGCCGAGCACTGCTGGACGTCTTTTCGCCAAAGGGGCTCATGTCAAAGGGCGGAAGGTCTTCATGTCTGGGAGCTAATGTGAGTGCACTCCTGCTTGTGTGAGCCTGTACATACATGCTCCTGCCCATCCTCGTGTCGGCTGTGTCTGTGTTTCTCTGGGTGTCTGTGGCTCTGAATGTGGGGCTCAGGGTCTCTGTGGTTGTGGTCAAGGGTTGCGGACACGTTCTTAGCAGTTATTTTCTTGTCTGTTTCTGTCCAAGCGTGCTTGGGGTTGTGTGGGGCTGTATCTGTTAGGGGTCCCCCACTCTGGCTGAGGGGCCCTAATGGTGGGTGCACTGGACAGACAGTGATGTCCCCACCGCCACTACACACGAGCACTGCCTTGGGTGAATCAGACATTGCACTGGGAATCCCGGGACCAGGGTGGGTCCCTGAGCGGTTTGTGTTTCAGTCTCCTGGGATGAAAATGGGGACAGAATGGTCACCCCTCGGCCTGTCCCCTCTGCCTCTCTCACTCTTCTCTCCGTCACTGTCAATGTCTCTGCATCTCTCTCCAACATTCTGCTGTCTCTGTCTCTGGGTCTCTTGCTGTCTTGTCCTCCAGGCCTTTCCCTCTCTGCCTTTACTTCTTTCCCTCTGCCGGAGGATCCTCAACCCACCCCCTCCAAGGCCACTCTCGGCCTCTGGTCTCCCCCTCCCCTGCCTCCCAATTCGCCCTGTCCCTCGGTCTAGCGACACCTCTGCGGGTCCCAGATCGCTTCCTCTACGGGACCTGTTGCTTCTCTGGGGTGGATCTGCCCACGACCTCAGGTCCGGGGACTGGCCGGTGGGCGTGGTGGCGGGGGTCCGCGCTCCCACCTCTCTCCCTTTCCCTCTTCCCGCCAGAGACTGAGACAGACGCGAGGCCGTGCATTGGCGGAGGTTTATTGTCCGTGCTGCAGGGGCGGGCGCGAAGAGCGCGCCGGTGGGGCGAGCGCGGGGCTCAGTAGGCGTCGGGCTGGGCGGGCTCGAAGGGCTCGGGCGCCCCGGCCAGCTGCACCAGCCGCAGCAGCAAGGCCCCGGCCGGCCCGTCCAGCTGCGTGGCGTTGCTCCGGTCGCTGGCGCGGGCGCGGCGGTGAAAGCCCTCGCGGCACTCGGGCTCGGTCACGCAGCTCTCTGCCGGGAGGACGTGTGAGCACGGGCGCCCTGGGGCGGGCGCAGCTCGGGGTGCGGGGGGCCCACACCCTCCCTGCCGGGCCCGACGCAGCCCCCACCCCGCCGCAGGCCCGCGTCCCCCCCACCCAAGCGGTCTGCGCCCCCCCCAGCCCCAGGCCCGCCCCCGCCGCGCACCGTCGTTGCAGCAAACGCCGAAGGCGGCGCAGCGGCCCCCGCTCCCGCACGCCTTCTGGCCGAACTGGCAGGGCGACGGCAGGTAGTTCTCCTCCTGGCAGCGCAGCGCCTCAGCCGTGCCCACGAAGCAGCCCAGCTCGTCCGCGCAGCAGATGCTGGGCCCGAAGCAGCGGCCTTTGCCCCCGGGGCCGCAGGGGAGGCACTGCGGGGACGGGCGGGGTGAGCGGGAGGAGGGGAGCCGGGAGTCGAGGGGTTGGAGGGGAACGCAGCGAGGCGGGGATGCTGGGGTCCAGGGCTCGGAGTGCGGGCGGGACACCGGGGCTGCGGCTGCAGGCACGCTCGGGCGCCACTGGGCCTCGACCGCGGTCACGGGCGGGGCGTCCAGATCTGCTCGGCACCTTGGTTTCTTGGATGACCTCTCGGTGACAGCCCTCAGCGTCCTCACCCTCAGCTAGGGACGGGTCTCCCGTGGACTACAGCGTGGGGAACCCTTCCTCGAGCCTCGGGGTCATCGCTGGTGGGCGCCACTGTTGCAGCTGCCCCACCCTCCACCACTCCAGACCCTTCCTCCTTCCTCCTCGCCCTGCTGCGGCTTGAGCCCGGGCCCACCCCCTTCCCCACTACACCATGCGGAGAGGCCCTACCCATCCAGAACCCCGGCCCTTCCCATTTCCTGTCTCCTCTCTTGCCTTGCCCCTGGCCCCCGCCAAGCTTGTCGGCCTCAGCTGGAGCCCTGACCCCTGCTCAGCCACCTATGACCTATCAGGTGGGTGGCAGGGGCCTGAGACCTAGAGGCGAGCACGGACACCCAGGTGCCTCAGGACCCTAAAGGAGCCTAGCAGGAGGAAGAGAGGCTGCGGGGGTTGCCGAGCGGCCACTCTCATCTGCTCAACAGCCGGTTCTCTGGCGCAATGGATAGCGCATTAGACTTTTAGCTGAGCCTGGTGTGGTCTAATTTGCTCAAGGGCTCATCATTGAGCCTGGACAGAATTGCATGCACATCGTGATTGGATTTCCTTCAGCTCTGCTGGAAATGGAGGAAACGTCCAGCACTATAGAATTAGGCCAGGTTCCCAGCAGAACTTCCCCACAGGATGCCCCACTCAAGCGCGCTCAGACCAGTGGCCATCTTCTGTGTGGGGGCCTGGGCGCCTGTGGCTGGGAGGCTGGGGCTGGATGAGGAAAGCCTCCAATGCTAGGTAGGATGGAGCCTCTGCTGCCCCAGCCAGTCCAGATGCAAGAACGCCATGGGCACAGGGGAGGCCATGATGCCCCGTTCTCCCTATCCAGCCCCAAGCCCAGTCACCGGGGAAGCATCCCTCATTTCCCTGCATCCCTGTCTGGATGGCGACAGTGACCAGGAGCGCCTTCAGCCTCTCCCAGCCTCCTCCAAAGCCTGGTCCCCTCTGGCCCACCCCATTGGCTCCTCTGCCCAGCCATGCCATGCCTCCCTCTTCCTCCCCCGAACTTCCCCTAAAGGCTACCACCACCCATGACTTCCCTCTTTCCTAGCCCCTGACCCAGGGTGTCAGCACTGCCCGCTATGGCAGCCCTGAGATGGCCCACAGTGGGAAGTACCTGTCTCAGCTCCAGGTCGGACATGGCCCTCTTGCCGCCCCTCGGGCAGTTCTGGAAGTAGCACGCGGAGGAGAAGGCCAGTAGGCCGAGGAAGCAGGCGGGCAGCATGGTGTCAGGCATCCTGGTGCACACAGGTGGACCCCGTATGCAGCACTGCTTGGTGGCTCTGTGCTGCTGCCTCTGCTGGCTGCCTATTTATGTCCGCAGGTGTTCCCGTGGAGGCGAGACGCGGCCGCCACCCCCTCCCCAGTGGCTCCCCAGGAGCCCACGGCCGCCAGGTCCCCAGCCGTCAGCAGTGATTCAGGCATCTGGGGACACACGTGGGCCTGTCTGTGCAGGGGATCATAGGGGAGGGGTACGGGCCGCCAGGCTGTCATGGGCCGCGGAATGACAGCAATTGCCTCTACTGTGACTGCAGCGCTCTGGATTCAGGGAGAGGGACAGACTGGGGGGTCACCTGGAGACCATCTCTGAGCTTTCTGATTACCCAGAAATGGCGTAGGGTCCAAGAAGAGGGTAAGAGGAACCGAGG
Task1_train_27619
This sequence variant lies in AVP (arginine vasopressin) on Chromosome 20. Is it clinically significant, and what condition might it cause if any?
Pathogenic; Neurohypophyseal diabetes insipidus
GGAGCAGGAGGTCATGGCAGTGACCCAAGCCTGCATGGTCCCTGTCCCCACTGGCTAGACCCAGTCGTGCCGGGCACTGCCTGGCAGAGGAGCCCAGAACCAGGTCAGGGGTGAGAGCCAAGGGGAGCCCTGGGAGTGTGGAAGAGAGCCTGACCTTGACATGTGCCTGGACTCTGCCCAGGGCTGCTGAGGCTGGGCTGCTTGAGTCACCAGGCTTGGCCGTAAGCCTGGGCATTGGGGTCAGGGCCCAGGCGGACTTCCCTCCTCCTGCACTCCCTCCTGACCTCAGAGTTTGCGGAGGATCCCGAAGGAGATGCAGCCTCTTGTGGCTCCAAGACCTGGAGCAGGAAGCCCAAGGAGAGGATGCAGAGAAAAGAGGAGGCCAAGAGAGAGAAGGATGGGAGGTGGCAGAGGGGGTGAGGGGACAGAAGGGGAGGGGTGGAGGGGCCAAGGAGAGAGGCAAGAGGGGGCCCAGGAGCTGGCAGAACAGGGAGGCGAGAGCAGAGTGAGAGACAAAGGAGAGAAAGGGGCAGATGGGACCAGAAAGGCCTCAGGTTCAAGAAGGGGGTGAGAGAACCCAAGGGATGCAGAGGAAGAGGCCGAGCACTGCTGGACGTCTTTTCGCCAAAGGGGCTCATGTCAAAGGGCGGAAGGTCTTCATGTCTGGGAGCTAATGTGAGTGCACTCCTGCTTGTGTGAGCCTGTACATACATGCTCCTGCCCATCCTCGTGTCGGCTGTGTCTGTGTTTCTCTGGGTGTCTGTGGCTCTGAATGTGGGGCTCAGGGTCTCTGTGGTTGTGGTCAAGGGTTGCGGACACGTTCTTAGCAGTTATTTTCTTGTCTGTTTCTGTCCAAGCGTGCTTGGGGTTGTGTGGGGCTGTATCTGTTAGGGGTCCCCCACTCTGGCTGAGGGGCCCTAATGGTGGGTGCACTGGACAGACAGTGATGTCCCCACCGCCACTACACACGAGCACTGCCTTGGGTGAATCAGACATTGCACTGGGAATCCCGGGACCAGGGTGGGTCCCTGAGCGGTTTGTGTTTCAGTCTCCTGGGATGAAAATGGGGACAGAATGGTCACCCCTCGGCCTGTCCCCTCTGCCTCTCTCACTCTTCTCTCCGTCACTGTCAATGTCTCTGCATCTCTCTCCAACATTCTGCTGTCTCTGTCTCTGGGTCTCTTGCTGTCTTGTCCTCCAGGCCTTTCCCTCTCTGCCTTTACTTCTTTCCCTCTGCCGGAGGATCCTCAACCCACCCCCTCCAAGGCCACTCTCGGCCTCTGGTCTCCCCCTCCCCTGCCTCCCAATTCGCCCTGTCCCTCGGTCTAGCGACACCTCTGCGGGTCCCAGATCGCTTCCTCTACGGGACCTGTTGCTTCTCTGGGGTGGATCTGCCCACGACCTCAGGTCCGGGGACTGGCCGGTGGGCGTGGTGGCGGGGGTCCGCGCTCCCACCTCTCTCCCTTTCCCTCTTCCCGCCAGAGACTGAGACAGACGCGAGGCCGTGCATTGGCGGAGGTTTATTGTCCGTGCTGCAGGGGCGGGCGCGAAGAGCGCGCCGGTGGGGCGAGCGCGGGGCTCAGTAGGCGTCGGGCTGGGCGGGCTCGAAGGGCTCGGGCGCCCCGGCCAGCTGCACCAGCCGCAGCAGCAAGGCCCCGGCCGGCCCGTCCAGCTGCGTGGCGTTGCTCCGGTCGCTGGCGCGGGCGCGGCGGTGAAAGCCCTCGCGGCACTCGGGCTCGGTCACGCAGCTCTCTGCCGGGAGGACGTGTGAGCACGGGCGCCCTGGGGCGGGCGCAGCTCGGGGTGCGGGGGGCCCACACCCTCCCTGCCGGGCCCGACGCAGCCCCCACCCCGCCGCAGGCCCGCGTCCCCCCCACCCAAGCGGTCTGCGCCCCCCCCAGCCCCAGGCCCGCCCCCGCCGCGCACCGTCGTTGCAGCAAACGCCGAAGGCGGCGCAGCGGCCCCCGCTCCCGCACGCCTTCTGGCCGGACTGGCAGGGCGACGGCAGGTAGTTCTCCTCCTGGCAGCGCAGCGCCTCAGCCGTGCCCACGAAGCAGCCCAGCTCGTCCGCGCAGCAGATGCTGGGCCCGAAGCAGCGGCCTTTGCCCCCGGGGCCGCAGGGGAGGCACTGCGGGGACGGGCGGGGTGAGCGGGAGGAGGGGAGCCGGGAGTCGAGGGGTTGGAGGGGAACGCAGCGAGGCGGGGATGCTGGGGTCCAGGGCTCGGAGTGCGGGCGGGACACCGGGGCTGCGGCTGCAGGCACGCTCGGGCGCCACTGGGCCTCGACCGCGGTCACGGGCGGGGCGTCCAGATCTGCTCGGCACCTTGGTTTCTTGGATGACCTCTCGGTGACAGCCCTCAGCGTCCTCACCCTCAGCTAGGGACGGGTCTCCCGTGGACTACAGCGTGGGGAACCCTTCCTCGAGCCTCGGGGTCATCGCTGGTGGGCGCCACTGTTGCAGCTGCCCCACCCTCCACCACTCCAGACCCTTCCTCCTTCCTCCTCGCCCTGCTGCGGCTTGAGCCCGGGCCCACCCCCTTCCCCACTACACCATGCGGAGAGGCCCTACCCATCCAGAACCCCGGCCCTTCCCATTTCCTGTCTCCTCTCTTGCCTTGCCCCTGGCCCCCGCCAAGCTTGTCGGCCTCAGCTGGAGCCCTGACCCCTGCTCAGCCACCTATGACCTATCAGGTGGGTGGCAGGGGCCTGAGACCTAGAGGCGAGCACGGACACCCAGGTGCCTCAGGACCCTAAAGGAGCCTAGCAGGAGGAAGAGAGGCTGCGGGGGTTGCCGAGCGGCCACTCTCATCTGCTCAACAGCCGGTTCTCTGGCGCAATGGATAGCGCATTAGACTTTTAGCTGAGCCTGGTGTGGTCTAATTTGCTCAAGGGCTCATCATTGAGCCTGGACAGAATTGCATGCACATCGTGATTGGATTTCCTTCAGCTCTGCTGGAAATGGAGGAAACGTCCAGCACTATAGAATTAGGCCAGGTTCCCAGCAGAACTTCCCCACAGGATGCCCCACTCAAGCGCGCTCAGACCAGTGGCCATCTTCTGTGTGGGGGCCTGGGCGCCTGTGGCTGGGAGGCTGGGGCTGGATGAGGAAAGCCTCCAATGCTAGGTAGGATGGAGCCTCTGCTGCCCCAGCCAGTCCAGATGCAAGAACGCCATGGGCACAGGGGAGGCCATGATGCCCCGTTCTCCCTATCCAGCCCCAAGCCCAGTCACCGGGGAAGCATCCCTCATTTCCCTGCATCCCTGTCTGGATGGCGACAGTGACCAGGAGCGCCTTCAGCCTCTCCCAGCCTCCTCCAAAGCCTGGTCCCCTCTGGCCCACCCCATTGGCTCCTCTGCCCAGCCATGCCATGCCTCCCTCTTCCTCCCCCGAACTTCCCCTAAAGGCTACCACCACCCATGACTTCCCTCTTTCCTAGCCCCTGACCCAGGGTGTCAGCACTGCCCGCTATGGCAGCCCTGAGATGGCCCACAGTGGGAAGTACCTGTCTCAGCTCCAGGTCGGACATGGCCCTCTTGCCGCCCCTCGGGCAGTTCTGGAAGTAGCACGCGGAGGAGAAGGCCAGTAGGCCGAGGAAGCAGGCGGGCAGCATGGTGTCAGGCATCCTGGTGCACACAGGTGGACCCCGTATGCAGCACTGCTTGGTGGCTCTGTGCTGCTGCCTCTGCTGGCTGCCTATTTATGTCCGCAGGTGTTCCCGTGGAGGCGAGACGCGGCCGCCACCCCCTCCCCAGTGGCTCCCCAGGAGCCCACGGCCGCCAGGTCCCCAGCCGTCAGCAGTGATTCAGGCATCTGGGGACACACGTGGGCCTGTCTGTGCAGGGGATCATAGGGGAGGGGTACGGGCCGCCAGGCTGTCATGGGCCGCGGAATGACAGCAATTGCCTCTACTGTGACTGCAGCGCTCTGGATTCAGGGAGAGGGACAGACTGGGGGGTCACCTGGAGACCATCTCTGAGCTTTCTGATTACCCAGAAATGGCGTAGGGTCCAAGAAGAGGGTAAGAGGAACCGAGGGGCTGCGTGTTAGGGGCAGGGACAGGCCCTGGCCTAGGAGCTGTGGGGCAGGGGACAGCC
GGAGCAGGAGGTCATGGCAGTGACCCAAGCCTGCATGGTCCCTGTCCCCACTGGCTAGACCCAGTCGTGCCGGGCACTGCCTGGCAGAGGAGCCCAGAACCAGGTCAGGGGTGAGAGCCAAGGGGAGCCCTGGGAGTGTGGAAGAGAGCCTGACCTTGACATGTGCCTGGACTCTGCCCAGGGCTGCTGAGGCTGGGCTGCTTGAGTCACCAGGCTTGGCCGTAAGCCTGGGCATTGGGGTCAGGGCCCAGGCGGACTTCCCTCCTCCTGCACTCCCTCCTGACCTCAGAGTTTGCGGAGGATCCCGAAGGAGATGCAGCCTCTTGTGGCTCCAAGACCTGGAGCAGGAAGCCCAAGGAGAGGATGCAGAGAAAAGAGGAGGCCAAGAGAGAGAAGGATGGGAGGTGGCAGAGGGGGTGAGGGGACAGAAGGGGAGGGGTGGAGGGGCCAAGGAGAGAGGCAAGAGGGGGCCCAGGAGCTGGCAGAACAGGGAGGCGAGAGCAGAGTGAGAGACAAAGGAGAGAAAGGGGCAGATGGGACCAGAAAGGCCTCAGGTTCAAGAAGGGGGTGAGAGAACCCAAGGGATGCAGAGGAAGAGGCCGAGCACTGCTGGACGTCTTTTCGCCAAAGGGGCTCATGTCAAAGGGCGGAAGGTCTTCATGTCTGGGAGCTAATGTGAGTGCACTCCTGCTTGTGTGAGCCTGTACATACATGCTCCTGCCCATCCTCGTGTCGGCTGTGTCTGTGTTTCTCTGGGTGTCTGTGGCTCTGAATGTGGGGCTCAGGGTCTCTGTGGTTGTGGTCAAGGGTTGCGGACACGTTCTTAGCAGTTATTTTCTTGTCTGTTTCTGTCCAAGCGTGCTTGGGGTTGTGTGGGGCTGTATCTGTTAGGGGTCCCCCACTCTGGCTGAGGGGCCCTAATGGTGGGTGCACTGGACAGACAGTGATGTCCCCACCGCCACTACACACGAGCACTGCCTTGGGTGAATCAGACATTGCACTGGGAATCCCGGGACCAGGGTGGGTCCCTGAGCGGTTTGTGTTTCAGTCTCCTGGGATGAAAATGGGGACAGAATGGTCACCCCTCGGCCTGTCCCCTCTGCCTCTCTCACTCTTCTCTCCGTCACTGTCAATGTCTCTGCATCTCTCTCCAACATTCTGCTGTCTCTGTCTCTGGGTCTCTTGCTGTCTTGTCCTCCAGGCCTTTCCCTCTCTGCCTTTACTTCTTTCCCTCTGCCGGAGGATCCTCAACCCACCCCCTCCAAGGCCACTCTCGGCCTCTGGTCTCCCCCTCCCCTGCCTCCCAATTCGCCCTGTCCCTCGGTCTAGCGACACCTCTGCGGGTCCCAGATCGCTTCCTCTACGGGACCTGTTGCTTCTCTGGGGTGGATCTGCCCACGACCTCAGGTCCGGGGACTGGCCGGTGGGCGTGGTGGCGGGGGTCCGCGCTCCCACCTCTCTCCCTTTCCCTCTTCCCGCCAGAGACTGAGACAGACGCGAGGCCGTGCATTGGCGGAGGTTTATTGTCCGTGCTGCAGGGGCGGGCGCGAAGAGCGCGCCGGTGGGGCGAGCGCGGGGCTCAGTAGGCGTCGGGCTGGGCGGGCTCGAAGGGCTCGGGCGCCCCGGCCAGCTGCACCAGCCGCAGCAGCAAGGCCCCGGCCGGCCCGTCCAGCTGCGTGGCGTTGCTCCGGTCGCTGGCGCGGGCGCGGCGGTGAAAGCCCTCGCGGCACTCGGGCTCGGTCACGCAGCTCTCTGCCGGGAGGACGTGTGAGCACGGGCGCCCTGGGGCGGGCGCAGCTCGGGGTGCGGGGGGCCCACACCCTCCCTGCCGGGCCCGACGCAGCCCCCACCCCGCCGCAGGCCCGCGTCCCCCCCACCCAAGCGGTCTGCGCCCCCCCCAGCCCCAGGCCCGCCCCCGCCGCGCACCGTCGTTGCAGCAAACGCCGAAGGCGGCGCAGCGGCCCCCGCTCCCGCACGCCTTCTGGCCGGACTGGCAGGGCGACGGCAGGTAGTTCTCCTCCTGGCAGCGCAGCGCCTCAGCCGTGCCCGCGAAGCAGCCCAGCTCGTCCGCGCAGCAGATGCTGGGCCCGAAGCAGCGGCCTTTGCCCCCGGGGCCGCAGGGGAGGCACTGCGGGGACGGGCGGGGTGAGCGGGAGGAGGGGAGCCGGGAGTCGAGGGGTTGGAGGGGAACGCAGCGAGGCGGGGATGCTGGGGTCCAGGGCTCGGAGTGCGGGCGGGACACCGGGGCTGCGGCTGCAGGCACGCTCGGGCGCCACTGGGCCTCGACCGCGGTCACGGGCGGGGCGTCCAGATCTGCTCGGCACCTTGGTTTCTTGGATGACCTCTCGGTGACAGCCCTCAGCGTCCTCACCCTCAGCTAGGGACGGGTCTCCCGTGGACTACAGCGTGGGGAACCCTTCCTCGAGCCTCGGGGTCATCGCTGGTGGGCGCCACTGTTGCAGCTGCCCCACCCTCCACCACTCCAGACCCTTCCTCCTTCCTCCTCGCCCTGCTGCGGCTTGAGCCCGGGCCCACCCCCTTCCCCACTACACCATGCGGAGAGGCCCTACCCATCCAGAACCCCGGCCCTTCCCATTTCCTGTCTCCTCTCTTGCCTTGCCCCTGGCCCCCGCCAAGCTTGTCGGCCTCAGCTGGAGCCCTGACCCCTGCTCAGCCACCTATGACCTATCAGGTGGGTGGCAGGGGCCTGAGACCTAGAGGCGAGCACGGACACCCAGGTGCCTCAGGACCCTAAAGGAGCCTAGCAGGAGGAAGAGAGGCTGCGGGGGTTGCCGAGCGGCCACTCTCATCTGCTCAACAGCCGGTTCTCTGGCGCAATGGATAGCGCATTAGACTTTTAGCTGAGCCTGGTGTGGTCTAATTTGCTCAAGGGCTCATCATTGAGCCTGGACAGAATTGCATGCACATCGTGATTGGATTTCCTTCAGCTCTGCTGGAAATGGAGGAAACGTCCAGCACTATAGAATTAGGCCAGGTTCCCAGCAGAACTTCCCCACAGGATGCCCCACTCAAGCGCGCTCAGACCAGTGGCCATCTTCTGTGTGGGGGCCTGGGCGCCTGTGGCTGGGAGGCTGGGGCTGGATGAGGAAAGCCTCCAATGCTAGGTAGGATGGAGCCTCTGCTGCCCCAGCCAGTCCAGATGCAAGAACGCCATGGGCACAGGGGAGGCCATGATGCCCCGTTCTCCCTATCCAGCCCCAAGCCCAGTCACCGGGGAAGCATCCCTCATTTCCCTGCATCCCTGTCTGGATGGCGACAGTGACCAGGAGCGCCTTCAGCCTCTCCCAGCCTCCTCCAAAGCCTGGTCCCCTCTGGCCCACCCCATTGGCTCCTCTGCCCAGCCATGCCATGCCTCCCTCTTCCTCCCCCGAACTTCCCCTAAAGGCTACCACCACCCATGACTTCCCTCTTTCCTAGCCCCTGACCCAGGGTGTCAGCACTGCCCGCTATGGCAGCCCTGAGATGGCCCACAGTGGGAAGTACCTGTCTCAGCTCCAGGTCGGACATGGCCCTCTTGCCGCCCCTCGGGCAGTTCTGGAAGTAGCACGCGGAGGAGAAGGCCAGTAGGCCGAGGAAGCAGGCGGGCAGCATGGTGTCAGGCATCCTGGTGCACACAGGTGGACCCCGTATGCAGCACTGCTTGGTGGCTCTGTGCTGCTGCCTCTGCTGGCTGCCTATTTATGTCCGCAGGTGTTCCCGTGGAGGCGAGACGCGGCCGCCACCCCCTCCCCAGTGGCTCCCCAGGAGCCCACGGCCGCCAGGTCCCCAGCCGTCAGCAGTGATTCAGGCATCTGGGGACACACGTGGGCCTGTCTGTGCAGGGGATCATAGGGGAGGGGTACGGGCCGCCAGGCTGTCATGGGCCGCGGAATGACAGCAATTGCCTCTACTGTGACTGCAGCGCTCTGGATTCAGGGAGAGGGACAGACTGGGGGGTCACCTGGAGACCATCTCTGAGCTTTCTGATTACCCAGAAATGGCGTAGGGTCCAAGAAGAGGGTAAGAGGAACCGAGGGGCTGCGTGTTAGGGGCAGGGACAGGCCCTGGCCTAGGAGCTGTGGGGCAGGGGACAGCC
Task1_train_27620
Given a variant located on Chromosome 20 and affecting AVP (arginine vasopressin), assess whether it is benign or pathogenic. Indicate the associated disease if pathogenic.
Pathogenic; not provided
CCCTGTCCCCACTGGCTAGACCCAGTCGTGCCGGGCACTGCCTGGCAGAGGAGCCCAGAACCAGGTCAGGGGTGAGAGCCAAGGGGAGCCCTGGGAGTGTGGAAGAGAGCCTGACCTTGACATGTGCCTGGACTCTGCCCAGGGCTGCTGAGGCTGGGCTGCTTGAGTCACCAGGCTTGGCCGTAAGCCTGGGCATTGGGGTCAGGGCCCAGGCGGACTTCCCTCCTCCTGCACTCCCTCCTGACCTCAGAGTTTGCGGAGGATCCCGAAGGAGATGCAGCCTCTTGTGGCTCCAAGACCTGGAGCAGGAAGCCCAAGGAGAGGATGCAGAGAAAAGAGGAGGCCAAGAGAGAGAAGGATGGGAGGTGGCAGAGGGGGTGAGGGGACAGAAGGGGAGGGGTGGAGGGGCCAAGGAGAGAGGCAAGAGGGGGCCCAGGAGCTGGCAGAACAGGGAGGCGAGAGCAGAGTGAGAGACAAAGGAGAGAAAGGGGCAGATGGGACCAGAAAGGCCTCAGGTTCAAGAAGGGGGTGAGAGAACCCAAGGGATGCAGAGGAAGAGGCCGAGCACTGCTGGACGTCTTTTCGCCAAAGGGGCTCATGTCAAAGGGCGGAAGGTCTTCATGTCTGGGAGCTAATGTGAGTGCACTCCTGCTTGTGTGAGCCTGTACATACATGCTCCTGCCCATCCTCGTGTCGGCTGTGTCTGTGTTTCTCTGGGTGTCTGTGGCTCTGAATGTGGGGCTCAGGGTCTCTGTGGTTGTGGTCAAGGGTTGCGGACACGTTCTTAGCAGTTATTTTCTTGTCTGTTTCTGTCCAAGCGTGCTTGGGGTTGTGTGGGGCTGTATCTGTTAGGGGTCCCCCACTCTGGCTGAGGGGCCCTAATGGTGGGTGCACTGGACAGACAGTGATGTCCCCACCGCCACTACACACGAGCACTGCCTTGGGTGAATCAGACATTGCACTGGGAATCCCGGGACCAGGGTGGGTCCCTGAGCGGTTTGTGTTTCAGTCTCCTGGGATGAAAATGGGGACAGAATGGTCACCCCTCGGCCTGTCCCCTCTGCCTCTCTCACTCTTCTCTCCGTCACTGTCAATGTCTCTGCATCTCTCTCCAACATTCTGCTGTCTCTGTCTCTGGGTCTCTTGCTGTCTTGTCCTCCAGGCCTTTCCCTCTCTGCCTTTACTTCTTTCCCTCTGCCGGAGGATCCTCAACCCACCCCCTCCAAGGCCACTCTCGGCCTCTGGTCTCCCCCTCCCCTGCCTCCCAATTCGCCCTGTCCCTCGGTCTAGCGACACCTCTGCGGGTCCCAGATCGCTTCCTCTACGGGACCTGTTGCTTCTCTGGGGTGGATCTGCCCACGACCTCAGGTCCGGGGACTGGCCGGTGGGCGTGGTGGCGGGGGTCCGCGCTCCCACCTCTCTCCCTTTCCCTCTTCCCGCCAGAGACTGAGACAGACGCGAGGCCGTGCATTGGCGGAGGTTTATTGTCCGTGCTGCAGGGGCGGGCGCGAAGAGCGCGCCGGTGGGGCGAGCGCGGGGCTCAGTAGGCGTCGGGCTGGGCGGGCTCGAAGGGCTCGGGCGCCCCGGCCAGCTGCACCAGCCGCAGCAGCAAGGCCCCGGCCGGCCCGTCCAGCTGCGTGGCGTTGCTCCGGTCGCTGGCGCGGGCGCGGCGGTGAAAGCCCTCGCGGCACTCGGGCTCGGTCACGCAGCTCTCTGCCGGGAGGACGTGTGAGCACGGGCGCCCTGGGGCGGGCGCAGCTCGGGGTGCGGGGGGCCCACACCCTCCCTGCCGGGCCCGACGCAGCCCCCACCCCGCCGCAGGCCCGCGTCCCCCCCACCCAAGCGGTCTGCGCCCCCCCCAGCCCCAGGCCCGCCCCCGCCGCGCACCGTCGTTGCAGCAAACGCCGAAGGCGGCGCAGCGGCCCCCGCTCCCGCACGCCTTCTGGCCGGACTGGCAGGGCGACGGCAGGTAGTTCTCCTCCTGGCAGCGCAGCGCCTCAGCCGTGCCCACGAAGCAGCCCAGCTCGTCCGCGCAGCAGATGCTGGGCCCGAAGCAGCGGCCTTTGCCCCCGGGGCCGCAGGGGAGGCACTGCGGGGACGGGCGGGGTGAGCGGGAGGAGGGGAGCCGGGAGTCGAGGGGTTGGAGGGGAACGCAGCGAGGCGGGGATGCTGGGGTCCAGGGCTCGGAGTGCGGGCGGGACACCGGGGCTGCGGCTGCAGGCACGCTCGGGCGCCACTGGGCCTCGACCGCGGTCACGGGCGGGGCGTCCAGATCTGCTCGGCACCTTGGTTTCTTGGATGACCTCTCGGTGACAGCCCTCAGCGTCCTCACCCTCAGCTAGGGACGGGTCTCCCGTGGACTACAGCGTGGGGAACCCTTCCTCGAGCCTCGGGGTCATCGCTGGTGGGCGCCACTGTTGCAGCTGCCCCACCCTCCACCACTCCAGACCCTTCCTCCTTCCTCCTCGCCCTGCTGCGGCTTGAGCCCGGGCCCACCCCCTTCCCCACTACACCATGCGGAGAGGCCCTACCCATCCAGAACCCCGGCCCTTCCCATTTCCTGTCTCCTCTCTTGCCTTGCCCCTGGCCCCCGCCAAGCTTGTCGGCCTCAGCTGGAGCCCTGACCCCTGCTCAGCCACCTATGACCTATCAGGTGGGTGGCAGGGGCCTGAGACCTAGAGGCGAGCACGGACACCCAGGTGCCTCAGGACCCTAAAGGAGCCTAGCAGGAGGAAGAGAGGCTGCGGGGGTTGCCGAGCGGCCACTCTCATCTGCTCAACAGCCGGTTCTCTGGCGCAATGGATAGCGCATTAGACTTTTAGCTGAGCCTGGTGTGGTCTAATTTGCTCAAGGGCTCATCATTGAGCCTGGACAGAATTGCATGCACATCGTGATTGGATTTCCTTCAGCTCTGCTGGAAATGGAGGAAACGTCCAGCACTATAGAATTAGGCCAGGTTCCCAGCAGAACTTCCCCACAGGATGCCCCACTCAAGCGCGCTCAGACCAGTGGCCATCTTCTGTGTGGGGGCCTGGGCGCCTGTGGCTGGGAGGCTGGGGCTGGATGAGGAAAGCCTCCAATGCTAGGTAGGATGGAGCCTCTGCTGCCCCAGCCAGTCCAGATGCAAGAACGCCATGGGCACAGGGGAGGCCATGATGCCCCGTTCTCCCTATCCAGCCCCAAGCCCAGTCACCGGGGAAGCATCCCTCATTTCCCTGCATCCCTGTCTGGATGGCGACAGTGACCAGGAGCGCCTTCAGCCTCTCCCAGCCTCCTCCAAAGCCTGGTCCCCTCTGGCCCACCCCATTGGCTCCTCTGCCCAGCCATGCCATGCCTCCCTCTTCCTCCCCCGAACTTCCCCTAAAGGCTACCACCACCCATGACTTCCCTCTTTCCTAGCCCCTGACCCAGGGTGTCAGCACTGCCCGCTATGGCAGCCCTGAGATGGCCCACAGTGGGAAGTACCTGTCTCAGCTCCAGGTCGGACATGGCCCTCTTGCCGCCCCTCGGGCAGTTCTGGAAGTAGCACGCGGAGGAGAAGGCCAGTAGGCCGAGGAAGCAGGCGGGCAGCATGGTGTCAGGCATCCTGGTGCACACAGGTGGACCCCGTATGCAGCACTGCTTGGTGGCTCTGTGCTGCTGCCTCTGCTGGCTGCCTATTTATGTCCGCAGGTGTTCCCGTGGAGGCGAGACGCGGCCGCCACCCCCTCCCCAGTGGCTCCCCAGGAGCCCACGGCCGCCAGGTCCCCAGCCGTCAGCAGTGATTCAGGCATCTGGGGACACACGTGGGCCTGTCTGTGCAGGGGATCATAGGGGAGGGGTACGGGCCGCCAGGCTGTCATGGGCCGCGGAATGACAGCAATTGCCTCTACTGTGACTGCAGCGCTCTGGATTCAGGGAGAGGGACAGACTGGGGGGTCACCTGGAGACCATCTCTGAGCTTTCTGATTACCCAGAAATGGCGTAGGGTCCAAGAAGAGGGTAAGAGGAACCGAGGGGCTGCGTGTTAGGGGCAGGGACAGGCCCTGGCCTAGGAGCTGTGGGGCAGGGGACAGCCAGGTGTGTGGGGAGGGTTAGCCCTGTGACAACAAGATAA
CCCTGTCCCCACTGGCTAGACCCAGTCGTGCCGGGCACTGCCTGGCAGAGGAGCCCAGAACCAGGTCAGGGGTGAGAGCCAAGGGGAGCCCTGGGAGTGTGGAAGAGAGCCTGACCTTGACATGTGCCTGGACTCTGCCCAGGGCTGCTGAGGCTGGGCTGCTTGAGTCACCAGGCTTGGCCGTAAGCCTGGGCATTGGGGTCAGGGCCCAGGCGGACTTCCCTCCTCCTGCACTCCCTCCTGACCTCAGAGTTTGCGGAGGATCCCGAAGGAGATGCAGCCTCTTGTGGCTCCAAGACCTGGAGCAGGAAGCCCAAGGAGAGGATGCAGAGAAAAGAGGAGGCCAAGAGAGAGAAGGATGGGAGGTGGCAGAGGGGGTGAGGGGACAGAAGGGGAGGGGTGGAGGGGCCAAGGAGAGAGGCAAGAGGGGGCCCAGGAGCTGGCAGAACAGGGAGGCGAGAGCAGAGTGAGAGACAAAGGAGAGAAAGGGGCAGATGGGACCAGAAAGGCCTCAGGTTCAAGAAGGGGGTGAGAGAACCCAAGGGATGCAGAGGAAGAGGCCGAGCACTGCTGGACGTCTTTTCGCCAAAGGGGCTCATGTCAAAGGGCGGAAGGTCTTCATGTCTGGGAGCTAATGTGAGTGCACTCCTGCTTGTGTGAGCCTGTACATACATGCTCCTGCCCATCCTCGTGTCGGCTGTGTCTGTGTTTCTCTGGGTGTCTGTGGCTCTGAATGTGGGGCTCAGGGTCTCTGTGGTTGTGGTCAAGGGTTGCGGACACGTTCTTAGCAGTTATTTTCTTGTCTGTTTCTGTCCAAGCGTGCTTGGGGTTGTGTGGGGCTGTATCTGTTAGGGGTCCCCCACTCTGGCTGAGGGGCCCTAATGGTGGGTGCACTGGACAGACAGTGATGTCCCCACCGCCACTACACACGAGCACTGCCTTGGGTGAATCAGACATTGCACTGGGAATCCCGGGACCAGGGTGGGTCCCTGAGCGGTTTGTGTTTCAGTCTCCTGGGATGAAAATGGGGACAGAATGGTCACCCCTCGGCCTGTCCCCTCTGCCTCTCTCACTCTTCTCTCCGTCACTGTCAATGTCTCTGCATCTCTCTCCAACATTCTGCTGTCTCTGTCTCTGGGTCTCTTGCTGTCTTGTCCTCCAGGCCTTTCCCTCTCTGCCTTTACTTCTTTCCCTCTGCCGGAGGATCCTCAACCCACCCCCTCCAAGGCCACTCTCGGCCTCTGGTCTCCCCCTCCCCTGCCTCCCAATTCGCCCTGTCCCTCGGTCTAGCGACACCTCTGCGGGTCCCAGATCGCTTCCTCTACGGGACCTGTTGCTTCTCTGGGGTGGATCTGCCCACGACCTCAGGTCCGGGGACTGGCCGGTGGGCGTGGTGGCGGGGGTCCGCGCTCCCACCTCTCTCCCTTTCCCTCTTCCCGCCAGAGACTGAGACAGACGCGAGGCCGTGCATTGGCGGAGGTTTATTGTCCGTGCTGCAGGGGCGGGCGCGAAGAGCGCGCCGGTGGGGCGAGCGCGGGGCTCAGTAGGCGTCGGGCTGGGCGGGCTCGAAGGGCTCGGGCGCCCCGGCCAGCTGCACCAGCCGCAGCAGCAAGGCCCCGGCCGGCCCGTCCAGCTGCGTGGCGTTGCTCCGGTCGCTGGCGCGGGCGCGGCGGTGAAAGCCCTCGCGGCACTCGGGCTCGGTCACGCAGCTCTCTGCCGGGAGGACGTGTGAGCACGGGCGCCCTGGGGCGGGCGCAGCTCGGGGTGCGGGGGGCCCACACCCTCCCTGCCGGGCCCGACGCAGCCCCCACCCCGCCGCAGGCCCGCGTCCCCCCCACCCAAGCGGTCTGCGCCCCCCCCAGCCCCAGGCCCGCCCCCGCCGCGCACCGTCGTTGCAGCAAACGCCGAAGGCGGCGCAGCGGCCCCCGCTCCCGCACGCCTTCTGGCCGGACTGGCAGGGCGACGGCAGGTAGTTCTCCTCCTGGCAGCGCAGCGCCTCAGCCGTGCCCACGAAGCAGCCCAGCTCGTCCGCGCAGCAGATGCTGGGCACGAAGCAGCGGCCTTTGCCCCCGGGGCCGCAGGGGAGGCACTGCGGGGACGGGCGGGGTGAGCGGGAGGAGGGGAGCCGGGAGTCGAGGGGTTGGAGGGGAACGCAGCGAGGCGGGGATGCTGGGGTCCAGGGCTCGGAGTGCGGGCGGGACACCGGGGCTGCGGCTGCAGGCACGCTCGGGCGCCACTGGGCCTCGACCGCGGTCACGGGCGGGGCGTCCAGATCTGCTCGGCACCTTGGTTTCTTGGATGACCTCTCGGTGACAGCCCTCAGCGTCCTCACCCTCAGCTAGGGACGGGTCTCCCGTGGACTACAGCGTGGGGAACCCTTCCTCGAGCCTCGGGGTCATCGCTGGTGGGCGCCACTGTTGCAGCTGCCCCACCCTCCACCACTCCAGACCCTTCCTCCTTCCTCCTCGCCCTGCTGCGGCTTGAGCCCGGGCCCACCCCCTTCCCCACTACACCATGCGGAGAGGCCCTACCCATCCAGAACCCCGGCCCTTCCCATTTCCTGTCTCCTCTCTTGCCTTGCCCCTGGCCCCCGCCAAGCTTGTCGGCCTCAGCTGGAGCCCTGACCCCTGCTCAGCCACCTATGACCTATCAGGTGGGTGGCAGGGGCCTGAGACCTAGAGGCGAGCACGGACACCCAGGTGCCTCAGGACCCTAAAGGAGCCTAGCAGGAGGAAGAGAGGCTGCGGGGGTTGCCGAGCGGCCACTCTCATCTGCTCAACAGCCGGTTCTCTGGCGCAATGGATAGCGCATTAGACTTTTAGCTGAGCCTGGTGTGGTCTAATTTGCTCAAGGGCTCATCATTGAGCCTGGACAGAATTGCATGCACATCGTGATTGGATTTCCTTCAGCTCTGCTGGAAATGGAGGAAACGTCCAGCACTATAGAATTAGGCCAGGTTCCCAGCAGAACTTCCCCACAGGATGCCCCACTCAAGCGCGCTCAGACCAGTGGCCATCTTCTGTGTGGGGGCCTGGGCGCCTGTGGCTGGGAGGCTGGGGCTGGATGAGGAAAGCCTCCAATGCTAGGTAGGATGGAGCCTCTGCTGCCCCAGCCAGTCCAGATGCAAGAACGCCATGGGCACAGGGGAGGCCATGATGCCCCGTTCTCCCTATCCAGCCCCAAGCCCAGTCACCGGGGAAGCATCCCTCATTTCCCTGCATCCCTGTCTGGATGGCGACAGTGACCAGGAGCGCCTTCAGCCTCTCCCAGCCTCCTCCAAAGCCTGGTCCCCTCTGGCCCACCCCATTGGCTCCTCTGCCCAGCCATGCCATGCCTCCCTCTTCCTCCCCCGAACTTCCCCTAAAGGCTACCACCACCCATGACTTCCCTCTTTCCTAGCCCCTGACCCAGGGTGTCAGCACTGCCCGCTATGGCAGCCCTGAGATGGCCCACAGTGGGAAGTACCTGTCTCAGCTCCAGGTCGGACATGGCCCTCTTGCCGCCCCTCGGGCAGTTCTGGAAGTAGCACGCGGAGGAGAAGGCCAGTAGGCCGAGGAAGCAGGCGGGCAGCATGGTGTCAGGCATCCTGGTGCACACAGGTGGACCCCGTATGCAGCACTGCTTGGTGGCTCTGTGCTGCTGCCTCTGCTGGCTGCCTATTTATGTCCGCAGGTGTTCCCGTGGAGGCGAGACGCGGCCGCCACCCCCTCCCCAGTGGCTCCCCAGGAGCCCACGGCCGCCAGGTCCCCAGCCGTCAGCAGTGATTCAGGCATCTGGGGACACACGTGGGCCTGTCTGTGCAGGGGATCATAGGGGAGGGGTACGGGCCGCCAGGCTGTCATGGGCCGCGGAATGACAGCAATTGCCTCTACTGTGACTGCAGCGCTCTGGATTCAGGGAGAGGGACAGACTGGGGGGTCACCTGGAGACCATCTCTGAGCTTTCTGATTACCCAGAAATGGCGTAGGGTCCAAGAAGAGGGTAAGAGGAACCGAGGGGCTGCGTGTTAGGGGCAGGGACAGGCCCTGGCCTAGGAGCTGTGGGGCAGGGGACAGCCAGGTGTGTGGGGAGGGTTAGCCCTGTGACAACAAGATAA
Task1_train_27621
A variant on Chromosome 20 in gene AVP (arginine vasopressin) has been observed. Is this a neutral mutation, or does it result in a disease? If so, which one?
Pathogenic; not provided
CCTGTCCCCACTGGCTAGACCCAGTCGTGCCGGGCACTGCCTGGCAGAGGAGCCCAGAACCAGGTCAGGGGTGAGAGCCAAGGGGAGCCCTGGGAGTGTGGAAGAGAGCCTGACCTTGACATGTGCCTGGACTCTGCCCAGGGCTGCTGAGGCTGGGCTGCTTGAGTCACCAGGCTTGGCCGTAAGCCTGGGCATTGGGGTCAGGGCCCAGGCGGACTTCCCTCCTCCTGCACTCCCTCCTGACCTCAGAGTTTGCGGAGGATCCCGAAGGAGATGCAGCCTCTTGTGGCTCCAAGACCTGGAGCAGGAAGCCCAAGGAGAGGATGCAGAGAAAAGAGGAGGCCAAGAGAGAGAAGGATGGGAGGTGGCAGAGGGGGTGAGGGGACAGAAGGGGAGGGGTGGAGGGGCCAAGGAGAGAGGCAAGAGGGGGCCCAGGAGCTGGCAGAACAGGGAGGCGAGAGCAGAGTGAGAGACAAAGGAGAGAAAGGGGCAGATGGGACCAGAAAGGCCTCAGGTTCAAGAAGGGGGTGAGAGAACCCAAGGGATGCAGAGGAAGAGGCCGAGCACTGCTGGACGTCTTTTCGCCAAAGGGGCTCATGTCAAAGGGCGGAAGGTCTTCATGTCTGGGAGCTAATGTGAGTGCACTCCTGCTTGTGTGAGCCTGTACATACATGCTCCTGCCCATCCTCGTGTCGGCTGTGTCTGTGTTTCTCTGGGTGTCTGTGGCTCTGAATGTGGGGCTCAGGGTCTCTGTGGTTGTGGTCAAGGGTTGCGGACACGTTCTTAGCAGTTATTTTCTTGTCTGTTTCTGTCCAAGCGTGCTTGGGGTTGTGTGGGGCTGTATCTGTTAGGGGTCCCCCACTCTGGCTGAGGGGCCCTAATGGTGGGTGCACTGGACAGACAGTGATGTCCCCACCGCCACTACACACGAGCACTGCCTTGGGTGAATCAGACATTGCACTGGGAATCCCGGGACCAGGGTGGGTCCCTGAGCGGTTTGTGTTTCAGTCTCCTGGGATGAAAATGGGGACAGAATGGTCACCCCTCGGCCTGTCCCCTCTGCCTCTCTCACTCTTCTCTCCGTCACTGTCAATGTCTCTGCATCTCTCTCCAACATTCTGCTGTCTCTGTCTCTGGGTCTCTTGCTGTCTTGTCCTCCAGGCCTTTCCCTCTCTGCCTTTACTTCTTTCCCTCTGCCGGAGGATCCTCAACCCACCCCCTCCAAGGCCACTCTCGGCCTCTGGTCTCCCCCTCCCCTGCCTCCCAATTCGCCCTGTCCCTCGGTCTAGCGACACCTCTGCGGGTCCCAGATCGCTTCCTCTACGGGACCTGTTGCTTCTCTGGGGTGGATCTGCCCACGACCTCAGGTCCGGGGACTGGCCGGTGGGCGTGGTGGCGGGGGTCCGCGCTCCCACCTCTCTCCCTTTCCCTCTTCCCGCCAGAGACTGAGACAGACGCGAGGCCGTGCATTGGCGGAGGTTTATTGTCCGTGCTGCAGGGGCGGGCGCGAAGAGCGCGCCGGTGGGGCGAGCGCGGGGCTCAGTAGGCGTCGGGCTGGGCGGGCTCGAAGGGCTCGGGCGCCCCGGCCAGCTGCACCAGCCGCAGCAGCAAGGCCCCGGCCGGCCCGTCCAGCTGCGTGGCGTTGCTCCGGTCGCTGGCGCGGGCGCGGCGGTGAAAGCCCTCGCGGCACTCGGGCTCGGTCACGCAGCTCTCTGCCGGGAGGACGTGTGAGCACGGGCGCCCTGGGGCGGGCGCAGCTCGGGGTGCGGGGGGCCCACACCCTCCCTGCCGGGCCCGACGCAGCCCCCACCCCGCCGCAGGCCCGCGTCCCCCCCACCCAAGCGGTCTGCGCCCCCCCCAGCCCCAGGCCCGCCCCCGCCGCGCACCGTCGTTGCAGCAAACGCCGAAGGCGGCGCAGCGGCCCCCGCTCCCGCACGCCTTCTGGCCGGACTGGCAGGGCGACGGCAGGTAGTTCTCCTCCTGGCAGCGCAGCGCCTCAGCCGTGCCCACGAAGCAGCCCAGCTCGTCCGCGCAGCAGATGCTGGGCCCGAAGCAGCGGCCTTTGCCCCCGGGGCCGCAGGGGAGGCACTGCGGGGACGGGCGGGGTGAGCGGGAGGAGGGGAGCCGGGAGTCGAGGGGTTGGAGGGGAACGCAGCGAGGCGGGGATGCTGGGGTCCAGGGCTCGGAGTGCGGGCGGGACACCGGGGCTGCGGCTGCAGGCACGCTCGGGCGCCACTGGGCCTCGACCGCGGTCACGGGCGGGGCGTCCAGATCTGCTCGGCACCTTGGTTTCTTGGATGACCTCTCGGTGACAGCCCTCAGCGTCCTCACCCTCAGCTAGGGACGGGTCTCCCGTGGACTACAGCGTGGGGAACCCTTCCTCGAGCCTCGGGGTCATCGCTGGTGGGCGCCACTGTTGCAGCTGCCCCACCCTCCACCACTCCAGACCCTTCCTCCTTCCTCCTCGCCCTGCTGCGGCTTGAGCCCGGGCCCACCCCCTTCCCCACTACACCATGCGGAGAGGCCCTACCCATCCAGAACCCCGGCCCTTCCCATTTCCTGTCTCCTCTCTTGCCTTGCCCCTGGCCCCCGCCAAGCTTGTCGGCCTCAGCTGGAGCCCTGACCCCTGCTCAGCCACCTATGACCTATCAGGTGGGTGGCAGGGGCCTGAGACCTAGAGGCGAGCACGGACACCCAGGTGCCTCAGGACCCTAAAGGAGCCTAGCAGGAGGAAGAGAGGCTGCGGGGGTTGCCGAGCGGCCACTCTCATCTGCTCAACAGCCGGTTCTCTGGCGCAATGGATAGCGCATTAGACTTTTAGCTGAGCCTGGTGTGGTCTAATTTGCTCAAGGGCTCATCATTGAGCCTGGACAGAATTGCATGCACATCGTGATTGGATTTCCTTCAGCTCTGCTGGAAATGGAGGAAACGTCCAGCACTATAGAATTAGGCCAGGTTCCCAGCAGAACTTCCCCACAGGATGCCCCACTCAAGCGCGCTCAGACCAGTGGCCATCTTCTGTGTGGGGGCCTGGGCGCCTGTGGCTGGGAGGCTGGGGCTGGATGAGGAAAGCCTCCAATGCTAGGTAGGATGGAGCCTCTGCTGCCCCAGCCAGTCCAGATGCAAGAACGCCATGGGCACAGGGGAGGCCATGATGCCCCGTTCTCCCTATCCAGCCCCAAGCCCAGTCACCGGGGAAGCATCCCTCATTTCCCTGCATCCCTGTCTGGATGGCGACAGTGACCAGGAGCGCCTTCAGCCTCTCCCAGCCTCCTCCAAAGCCTGGTCCCCTCTGGCCCACCCCATTGGCTCCTCTGCCCAGCCATGCCATGCCTCCCTCTTCCTCCCCCGAACTTCCCCTAAAGGCTACCACCACCCATGACTTCCCTCTTTCCTAGCCCCTGACCCAGGGTGTCAGCACTGCCCGCTATGGCAGCCCTGAGATGGCCCACAGTGGGAAGTACCTGTCTCAGCTCCAGGTCGGACATGGCCCTCTTGCCGCCCCTCGGGCAGTTCTGGAAGTAGCACGCGGAGGAGAAGGCCAGTAGGCCGAGGAAGCAGGCGGGCAGCATGGTGTCAGGCATCCTGGTGCACACAGGTGGACCCCGTATGCAGCACTGCTTGGTGGCTCTGTGCTGCTGCCTCTGCTGGCTGCCTATTTATGTCCGCAGGTGTTCCCGTGGAGGCGAGACGCGGCCGCCACCCCCTCCCCAGTGGCTCCCCAGGAGCCCACGGCCGCCAGGTCCCCAGCCGTCAGCAGTGATTCAGGCATCTGGGGACACACGTGGGCCTGTCTGTGCAGGGGATCATAGGGGAGGGGTACGGGCCGCCAGGCTGTCATGGGCCGCGGAATGACAGCAATTGCCTCTACTGTGACTGCAGCGCTCTGGATTCAGGGAGAGGGACAGACTGGGGGGTCACCTGGAGACCATCTCTGAGCTTTCTGATTACCCAGAAATGGCGTAGGGTCCAAGAAGAGGGTAAGAGGAACCGAGGGGCTGCGTGTTAGGGGCAGGGACAGGCCCTGGCCTAGGAGCTGTGGGGCAGGGGACAGCCAGGTGTGTGGGGAGGGTTAGCCCTGTGACAACAAGATAAG
CCTGTCCCCACTGGCTAGACCCAGTCGTGCCGGGCACTGCCTGGCAGAGGAGCCCAGAACCAGGTCAGGGGTGAGAGCCAAGGGGAGCCCTGGGAGTGTGGAAGAGAGCCTGACCTTGACATGTGCCTGGACTCTGCCCAGGGCTGCTGAGGCTGGGCTGCTTGAGTCACCAGGCTTGGCCGTAAGCCTGGGCATTGGGGTCAGGGCCCAGGCGGACTTCCCTCCTCCTGCACTCCCTCCTGACCTCAGAGTTTGCGGAGGATCCCGAAGGAGATGCAGCCTCTTGTGGCTCCAAGACCTGGAGCAGGAAGCCCAAGGAGAGGATGCAGAGAAAAGAGGAGGCCAAGAGAGAGAAGGATGGGAGGTGGCAGAGGGGGTGAGGGGACAGAAGGGGAGGGGTGGAGGGGCCAAGGAGAGAGGCAAGAGGGGGCCCAGGAGCTGGCAGAACAGGGAGGCGAGAGCAGAGTGAGAGACAAAGGAGAGAAAGGGGCAGATGGGACCAGAAAGGCCTCAGGTTCAAGAAGGGGGTGAGAGAACCCAAGGGATGCAGAGGAAGAGGCCGAGCACTGCTGGACGTCTTTTCGCCAAAGGGGCTCATGTCAAAGGGCGGAAGGTCTTCATGTCTGGGAGCTAATGTGAGTGCACTCCTGCTTGTGTGAGCCTGTACATACATGCTCCTGCCCATCCTCGTGTCGGCTGTGTCTGTGTTTCTCTGGGTGTCTGTGGCTCTGAATGTGGGGCTCAGGGTCTCTGTGGTTGTGGTCAAGGGTTGCGGACACGTTCTTAGCAGTTATTTTCTTGTCTGTTTCTGTCCAAGCGTGCTTGGGGTTGTGTGGGGCTGTATCTGTTAGGGGTCCCCCACTCTGGCTGAGGGGCCCTAATGGTGGGTGCACTGGACAGACAGTGATGTCCCCACCGCCACTACACACGAGCACTGCCTTGGGTGAATCAGACATTGCACTGGGAATCCCGGGACCAGGGTGGGTCCCTGAGCGGTTTGTGTTTCAGTCTCCTGGGATGAAAATGGGGACAGAATGGTCACCCCTCGGCCTGTCCCCTCTGCCTCTCTCACTCTTCTCTCCGTCACTGTCAATGTCTCTGCATCTCTCTCCAACATTCTGCTGTCTCTGTCTCTGGGTCTCTTGCTGTCTTGTCCTCCAGGCCTTTCCCTCTCTGCCTTTACTTCTTTCCCTCTGCCGGAGGATCCTCAACCCACCCCCTCCAAGGCCACTCTCGGCCTCTGGTCTCCCCCTCCCCTGCCTCCCAATTCGCCCTGTCCCTCGGTCTAGCGACACCTCTGCGGGTCCCAGATCGCTTCCTCTACGGGACCTGTTGCTTCTCTGGGGTGGATCTGCCCACGACCTCAGGTCCGGGGACTGGCCGGTGGGCGTGGTGGCGGGGGTCCGCGCTCCCACCTCTCTCCCTTTCCCTCTTCCCGCCAGAGACTGAGACAGACGCGAGGCCGTGCATTGGCGGAGGTTTATTGTCCGTGCTGCAGGGGCGGGCGCGAAGAGCGCGCCGGTGGGGCGAGCGCGGGGCTCAGTAGGCGTCGGGCTGGGCGGGCTCGAAGGGCTCGGGCGCCCCGGCCAGCTGCACCAGCCGCAGCAGCAAGGCCCCGGCCGGCCCGTCCAGCTGCGTGGCGTTGCTCCGGTCGCTGGCGCGGGCGCGGCGGTGAAAGCCCTCGCGGCACTCGGGCTCGGTCACGCAGCTCTCTGCCGGGAGGACGTGTGAGCACGGGCGCCCTGGGGCGGGCGCAGCTCGGGGTGCGGGGGGCCCACACCCTCCCTGCCGGGCCCGACGCAGCCCCCACCCCGCCGCAGGCCCGCGTCCCCCCCACCCAAGCGGTCTGCGCCCCCCCCAGCCCCAGGCCCGCCCCCGCCGCGCACCGTCGTTGCAGCAAACGCCGAAGGCGGCGCAGCGGCCCCCGCTCCCGCACGCCTTCTGGCCGGACTGGCAGGGCGACGGCAGGTAGTTCTCCTCCTGGCAGCGCAGCGCCTCAGCCGTGCCCACGAAGCAGCCCAGCTCGTCCGCGCAGCAGATGCTGGGCCGGAAGCAGCGGCCTTTGCCCCCGGGGCCGCAGGGGAGGCACTGCGGGGACGGGCGGGGTGAGCGGGAGGAGGGGAGCCGGGAGTCGAGGGGTTGGAGGGGAACGCAGCGAGGCGGGGATGCTGGGGTCCAGGGCTCGGAGTGCGGGCGGGACACCGGGGCTGCGGCTGCAGGCACGCTCGGGCGCCACTGGGCCTCGACCGCGGTCACGGGCGGGGCGTCCAGATCTGCTCGGCACCTTGGTTTCTTGGATGACCTCTCGGTGACAGCCCTCAGCGTCCTCACCCTCAGCTAGGGACGGGTCTCCCGTGGACTACAGCGTGGGGAACCCTTCCTCGAGCCTCGGGGTCATCGCTGGTGGGCGCCACTGTTGCAGCTGCCCCACCCTCCACCACTCCAGACCCTTCCTCCTTCCTCCTCGCCCTGCTGCGGCTTGAGCCCGGGCCCACCCCCTTCCCCACTACACCATGCGGAGAGGCCCTACCCATCCAGAACCCCGGCCCTTCCCATTTCCTGTCTCCTCTCTTGCCTTGCCCCTGGCCCCCGCCAAGCTTGTCGGCCTCAGCTGGAGCCCTGACCCCTGCTCAGCCACCTATGACCTATCAGGTGGGTGGCAGGGGCCTGAGACCTAGAGGCGAGCACGGACACCCAGGTGCCTCAGGACCCTAAAGGAGCCTAGCAGGAGGAAGAGAGGCTGCGGGGGTTGCCGAGCGGCCACTCTCATCTGCTCAACAGCCGGTTCTCTGGCGCAATGGATAGCGCATTAGACTTTTAGCTGAGCCTGGTGTGGTCTAATTTGCTCAAGGGCTCATCATTGAGCCTGGACAGAATTGCATGCACATCGTGATTGGATTTCCTTCAGCTCTGCTGGAAATGGAGGAAACGTCCAGCACTATAGAATTAGGCCAGGTTCCCAGCAGAACTTCCCCACAGGATGCCCCACTCAAGCGCGCTCAGACCAGTGGCCATCTTCTGTGTGGGGGCCTGGGCGCCTGTGGCTGGGAGGCTGGGGCTGGATGAGGAAAGCCTCCAATGCTAGGTAGGATGGAGCCTCTGCTGCCCCAGCCAGTCCAGATGCAAGAACGCCATGGGCACAGGGGAGGCCATGATGCCCCGTTCTCCCTATCCAGCCCCAAGCCCAGTCACCGGGGAAGCATCCCTCATTTCCCTGCATCCCTGTCTGGATGGCGACAGTGACCAGGAGCGCCTTCAGCCTCTCCCAGCCTCCTCCAAAGCCTGGTCCCCTCTGGCCCACCCCATTGGCTCCTCTGCCCAGCCATGCCATGCCTCCCTCTTCCTCCCCCGAACTTCCCCTAAAGGCTACCACCACCCATGACTTCCCTCTTTCCTAGCCCCTGACCCAGGGTGTCAGCACTGCCCGCTATGGCAGCCCTGAGATGGCCCACAGTGGGAAGTACCTGTCTCAGCTCCAGGTCGGACATGGCCCTCTTGCCGCCCCTCGGGCAGTTCTGGAAGTAGCACGCGGAGGAGAAGGCCAGTAGGCCGAGGAAGCAGGCGGGCAGCATGGTGTCAGGCATCCTGGTGCACACAGGTGGACCCCGTATGCAGCACTGCTTGGTGGCTCTGTGCTGCTGCCTCTGCTGGCTGCCTATTTATGTCCGCAGGTGTTCCCGTGGAGGCGAGACGCGGCCGCCACCCCCTCCCCAGTGGCTCCCCAGGAGCCCACGGCCGCCAGGTCCCCAGCCGTCAGCAGTGATTCAGGCATCTGGGGACACACGTGGGCCTGTCTGTGCAGGGGATCATAGGGGAGGGGTACGGGCCGCCAGGCTGTCATGGGCCGCGGAATGACAGCAATTGCCTCTACTGTGACTGCAGCGCTCTGGATTCAGGGAGAGGGACAGACTGGGGGGTCACCTGGAGACCATCTCTGAGCTTTCTGATTACCCAGAAATGGCGTAGGGTCCAAGAAGAGGGTAAGAGGAACCGAGGGGCTGCGTGTTAGGGGCAGGGACAGGCCCTGGCCTAGGAGCTGTGGGGCAGGGGACAGCCAGGTGTGTGGGGAGGGTTAGCCCTGTGACAACAAGATAAG
Task1_train_27622
This alteration in AVP (arginine vasopressin) on Chromosome 20 may affect gene function. Does it lead to a disease or is it benign?
Pathogenic; Neurohypophyseal diabetes insipidus
GACCCAGTCGTGCCGGGCACTGCCTGGCAGAGGAGCCCAGAACCAGGTCAGGGGTGAGAGCCAAGGGGAGCCCTGGGAGTGTGGAAGAGAGCCTGACCTTGACATGTGCCTGGACTCTGCCCAGGGCTGCTGAGGCTGGGCTGCTTGAGTCACCAGGCTTGGCCGTAAGCCTGGGCATTGGGGTCAGGGCCCAGGCGGACTTCCCTCCTCCTGCACTCCCTCCTGACCTCAGAGTTTGCGGAGGATCCCGAAGGAGATGCAGCCTCTTGTGGCTCCAAGACCTGGAGCAGGAAGCCCAAGGAGAGGATGCAGAGAAAAGAGGAGGCCAAGAGAGAGAAGGATGGGAGGTGGCAGAGGGGGTGAGGGGACAGAAGGGGAGGGGTGGAGGGGCCAAGGAGAGAGGCAAGAGGGGGCCCAGGAGCTGGCAGAACAGGGAGGCGAGAGCAGAGTGAGAGACAAAGGAGAGAAAGGGGCAGATGGGACCAGAAAGGCCTCAGGTTCAAGAAGGGGGTGAGAGAACCCAAGGGATGCAGAGGAAGAGGCCGAGCACTGCTGGACGTCTTTTCGCCAAAGGGGCTCATGTCAAAGGGCGGAAGGTCTTCATGTCTGGGAGCTAATGTGAGTGCACTCCTGCTTGTGTGAGCCTGTACATACATGCTCCTGCCCATCCTCGTGTCGGCTGTGTCTGTGTTTCTCTGGGTGTCTGTGGCTCTGAATGTGGGGCTCAGGGTCTCTGTGGTTGTGGTCAAGGGTTGCGGACACGTTCTTAGCAGTTATTTTCTTGTCTGTTTCTGTCCAAGCGTGCTTGGGGTTGTGTGGGGCTGTATCTGTTAGGGGTCCCCCACTCTGGCTGAGGGGCCCTAATGGTGGGTGCACTGGACAGACAGTGATGTCCCCACCGCCACTACACACGAGCACTGCCTTGGGTGAATCAGACATTGCACTGGGAATCCCGGGACCAGGGTGGGTCCCTGAGCGGTTTGTGTTTCAGTCTCCTGGGATGAAAATGGGGACAGAATGGTCACCCCTCGGCCTGTCCCCTCTGCCTCTCTCACTCTTCTCTCCGTCACTGTCAATGTCTCTGCATCTCTCTCCAACATTCTGCTGTCTCTGTCTCTGGGTCTCTTGCTGTCTTGTCCTCCAGGCCTTTCCCTCTCTGCCTTTACTTCTTTCCCTCTGCCGGAGGATCCTCAACCCACCCCCTCCAAGGCCACTCTCGGCCTCTGGTCTCCCCCTCCCCTGCCTCCCAATTCGCCCTGTCCCTCGGTCTAGCGACACCTCTGCGGGTCCCAGATCGCTTCCTCTACGGGACCTGTTGCTTCTCTGGGGTGGATCTGCCCACGACCTCAGGTCCGGGGACTGGCCGGTGGGCGTGGTGGCGGGGGTCCGCGCTCCCACCTCTCTCCCTTTCCCTCTTCCCGCCAGAGACTGAGACAGACGCGAGGCCGTGCATTGGCGGAGGTTTATTGTCCGTGCTGCAGGGGCGGGCGCGAAGAGCGCGCCGGTGGGGCGAGCGCGGGGCTCAGTAGGCGTCGGGCTGGGCGGGCTCGAAGGGCTCGGGCGCCCCGGCCAGCTGCACCAGCCGCAGCAGCAAGGCCCCGGCCGGCCCGTCCAGCTGCGTGGCGTTGCTCCGGTCGCTGGCGCGGGCGCGGCGGTGAAAGCCCTCGCGGCACTCGGGCTCGGTCACGCAGCTCTCTGCCGGGAGGACGTGTGAGCACGGGCGCCCTGGGGCGGGCGCAGCTCGGGGTGCGGGGGGCCCACACCCTCCCTGCCGGGCCCGACGCAGCCCCCACCCCGCCGCAGGCCCGCGTCCCCCCCACCCAAGCGGTCTGCGCCCCCCCCAGCCCCAGGCCCGCCCCCGCCGCGCACCGTCGTTGCAGCAAACGCCGAAGGCGGCGCAGCGGCCCCCGCTCCCGCACGCCTTCTGGCCGGACTGGCAGGGCGACGGCAGGTAGTTCTCCTCCTGGCAGCGCAGCGCCTCAGCCGTGCCCACGAAGCAGCCCAGCTCGTCCGCGCAGCAGATGCTGGGCCCGAAGCAGCGGCCTTTGCCCCCGGGGCCGCAGGGGAGGCACTGCGGGGACGGGCGGGGTGAGCGGGAGGAGGGGAGCCGGGAGTCGAGGGGTTGGAGGGGAACGCAGCGAGGCGGGGATGCTGGGGTCCAGGGCTCGGAGTGCGGGCGGGACACCGGGGCTGCGGCTGCAGGCACGCTCGGGCGCCACTGGGCCTCGACCGCGGTCACGGGCGGGGCGTCCAGATCTGCTCGGCACCTTGGTTTCTTGGATGACCTCTCGGTGACAGCCCTCAGCGTCCTCACCCTCAGCTAGGGACGGGTCTCCCGTGGACTACAGCGTGGGGAACCCTTCCTCGAGCCTCGGGGTCATCGCTGGTGGGCGCCACTGTTGCAGCTGCCCCACCCTCCACCACTCCAGACCCTTCCTCCTTCCTCCTCGCCCTGCTGCGGCTTGAGCCCGGGCCCACCCCCTTCCCCACTACACCATGCGGAGAGGCCCTACCCATCCAGAACCCCGGCCCTTCCCATTTCCTGTCTCCTCTCTTGCCTTGCCCCTGGCCCCCGCCAAGCTTGTCGGCCTCAGCTGGAGCCCTGACCCCTGCTCAGCCACCTATGACCTATCAGGTGGGTGGCAGGGGCCTGAGACCTAGAGGCGAGCACGGACACCCAGGTGCCTCAGGACCCTAAAGGAGCCTAGCAGGAGGAAGAGAGGCTGCGGGGGTTGCCGAGCGGCCACTCTCATCTGCTCAACAGCCGGTTCTCTGGCGCAATGGATAGCGCATTAGACTTTTAGCTGAGCCTGGTGTGGTCTAATTTGCTCAAGGGCTCATCATTGAGCCTGGACAGAATTGCATGCACATCGTGATTGGATTTCCTTCAGCTCTGCTGGAAATGGAGGAAACGTCCAGCACTATAGAATTAGGCCAGGTTCCCAGCAGAACTTCCCCACAGGATGCCCCACTCAAGCGCGCTCAGACCAGTGGCCATCTTCTGTGTGGGGGCCTGGGCGCCTGTGGCTGGGAGGCTGGGGCTGGATGAGGAAAGCCTCCAATGCTAGGTAGGATGGAGCCTCTGCTGCCCCAGCCAGTCCAGATGCAAGAACGCCATGGGCACAGGGGAGGCCATGATGCCCCGTTCTCCCTATCCAGCCCCAAGCCCAGTCACCGGGGAAGCATCCCTCATTTCCCTGCATCCCTGTCTGGATGGCGACAGTGACCAGGAGCGCCTTCAGCCTCTCCCAGCCTCCTCCAAAGCCTGGTCCCCTCTGGCCCACCCCATTGGCTCCTCTGCCCAGCCATGCCATGCCTCCCTCTTCCTCCCCCGAACTTCCCCTAAAGGCTACCACCACCCATGACTTCCCTCTTTCCTAGCCCCTGACCCAGGGTGTCAGCACTGCCCGCTATGGCAGCCCTGAGATGGCCCACAGTGGGAAGTACCTGTCTCAGCTCCAGGTCGGACATGGCCCTCTTGCCGCCCCTCGGGCAGTTCTGGAAGTAGCACGCGGAGGAGAAGGCCAGTAGGCCGAGGAAGCAGGCGGGCAGCATGGTGTCAGGCATCCTGGTGCACACAGGTGGACCCCGTATGCAGCACTGCTTGGTGGCTCTGTGCTGCTGCCTCTGCTGGCTGCCTATTTATGTCCGCAGGTGTTCCCGTGGAGGCGAGACGCGGCCGCCACCCCCTCCCCAGTGGCTCCCCAGGAGCCCACGGCCGCCAGGTCCCCAGCCGTCAGCAGTGATTCAGGCATCTGGGGACACACGTGGGCCTGTCTGTGCAGGGGATCATAGGGGAGGGGTACGGGCCGCCAGGCTGTCATGGGCCGCGGAATGACAGCAATTGCCTCTACTGTGACTGCAGCGCTCTGGATTCAGGGAGAGGGACAGACTGGGGGGTCACCTGGAGACCATCTCTGAGCTTTCTGATTACCCAGAAATGGCGTAGGGTCCAAGAAGAGGGTAAGAGGAACCGAGGGGCTGCGTGTTAGGGGCAGGGACAGGCCCTGGCCTAGGAGCTGTGGGGCAGGGGACAGCCAGGTGTGTGGGGAGGGTTAGCCCTGTGACAACAAGATAAGGGACCAAGAACAGCACA
GACCCAGTCGTGCCGGGCACTGCCTGGCAGAGGAGCCCAGAACCAGGTCAGGGGTGAGAGCCAAGGGGAGCCCTGGGAGTGTGGAAGAGAGCCTGACCTTGACATGTGCCTGGACTCTGCCCAGGGCTGCTGAGGCTGGGCTGCTTGAGTCACCAGGCTTGGCCGTAAGCCTGGGCATTGGGGTCAGGGCCCAGGCGGACTTCCCTCCTCCTGCACTCCCTCCTGACCTCAGAGTTTGCGGAGGATCCCGAAGGAGATGCAGCCTCTTGTGGCTCCAAGACCTGGAGCAGGAAGCCCAAGGAGAGGATGCAGAGAAAAGAGGAGGCCAAGAGAGAGAAGGATGGGAGGTGGCAGAGGGGGTGAGGGGACAGAAGGGGAGGGGTGGAGGGGCCAAGGAGAGAGGCAAGAGGGGGCCCAGGAGCTGGCAGAACAGGGAGGCGAGAGCAGAGTGAGAGACAAAGGAGAGAAAGGGGCAGATGGGACCAGAAAGGCCTCAGGTTCAAGAAGGGGGTGAGAGAACCCAAGGGATGCAGAGGAAGAGGCCGAGCACTGCTGGACGTCTTTTCGCCAAAGGGGCTCATGTCAAAGGGCGGAAGGTCTTCATGTCTGGGAGCTAATGTGAGTGCACTCCTGCTTGTGTGAGCCTGTACATACATGCTCCTGCCCATCCTCGTGTCGGCTGTGTCTGTGTTTCTCTGGGTGTCTGTGGCTCTGAATGTGGGGCTCAGGGTCTCTGTGGTTGTGGTCAAGGGTTGCGGACACGTTCTTAGCAGTTATTTTCTTGTCTGTTTCTGTCCAAGCGTGCTTGGGGTTGTGTGGGGCTGTATCTGTTAGGGGTCCCCCACTCTGGCTGAGGGGCCCTAATGGTGGGTGCACTGGACAGACAGTGATGTCCCCACCGCCACTACACACGAGCACTGCCTTGGGTGAATCAGACATTGCACTGGGAATCCCGGGACCAGGGTGGGTCCCTGAGCGGTTTGTGTTTCAGTCTCCTGGGATGAAAATGGGGACAGAATGGTCACCCCTCGGCCTGTCCCCTCTGCCTCTCTCACTCTTCTCTCCGTCACTGTCAATGTCTCTGCATCTCTCTCCAACATTCTGCTGTCTCTGTCTCTGGGTCTCTTGCTGTCTTGTCCTCCAGGCCTTTCCCTCTCTGCCTTTACTTCTTTCCCTCTGCCGGAGGATCCTCAACCCACCCCCTCCAAGGCCACTCTCGGCCTCTGGTCTCCCCCTCCCCTGCCTCCCAATTCGCCCTGTCCCTCGGTCTAGCGACACCTCTGCGGGTCCCAGATCGCTTCCTCTACGGGACCTGTTGCTTCTCTGGGGTGGATCTGCCCACGACCTCAGGTCCGGGGACTGGCCGGTGGGCGTGGTGGCGGGGGTCCGCGCTCCCACCTCTCTCCCTTTCCCTCTTCCCGCCAGAGACTGAGACAGACGCGAGGCCGTGCATTGGCGGAGGTTTATTGTCCGTGCTGCAGGGGCGGGCGCGAAGAGCGCGCCGGTGGGGCGAGCGCGGGGCTCAGTAGGCGTCGGGCTGGGCGGGCTCGAAGGGCTCGGGCGCCCCGGCCAGCTGCACCAGCCGCAGCAGCAAGGCCCCGGCCGGCCCGTCCAGCTGCGTGGCGTTGCTCCGGTCGCTGGCGCGGGCGCGGCGGTGAAAGCCCTCGCGGCACTCGGGCTCGGTCACGCAGCTCTCTGCCGGGAGGACGTGTGAGCACGGGCGCCCTGGGGCGGGCGCAGCTCGGGGTGCGGGGGGCCCACACCCTCCCTGCCGGGCCCGACGCAGCCCCCACCCCGCCGCAGGCCCGCGTCCCCCCCACCCAAGCGGTCTGCGCCCCCCCCAGCCCCAGGCCCGCCCCCGCCGCGCACCGTCGTTGCAGCAAACGCCGAAGGCGGCGCAGCGGCCCCCGCTCCCGCACGCCTTCTGGCCGGACTGGCAGGGCGACGGCAGGTAGTTCTCCTCCTGGCAGCGCAGCGCCTCAGCCGTGCCCACGAAGCAGCCCAGCTCGTCCGCGCAGCAGATGCTGGGCCCGAAGCAGCGGCCTTTGACCCCGGGGCCGCAGGGGAGGCACTGCGGGGACGGGCGGGGTGAGCGGGAGGAGGGGAGCCGGGAGTCGAGGGGTTGGAGGGGAACGCAGCGAGGCGGGGATGCTGGGGTCCAGGGCTCGGAGTGCGGGCGGGACACCGGGGCTGCGGCTGCAGGCACGCTCGGGCGCCACTGGGCCTCGACCGCGGTCACGGGCGGGGCGTCCAGATCTGCTCGGCACCTTGGTTTCTTGGATGACCTCTCGGTGACAGCCCTCAGCGTCCTCACCCTCAGCTAGGGACGGGTCTCCCGTGGACTACAGCGTGGGGAACCCTTCCTCGAGCCTCGGGGTCATCGCTGGTGGGCGCCACTGTTGCAGCTGCCCCACCCTCCACCACTCCAGACCCTTCCTCCTTCCTCCTCGCCCTGCTGCGGCTTGAGCCCGGGCCCACCCCCTTCCCCACTACACCATGCGGAGAGGCCCTACCCATCCAGAACCCCGGCCCTTCCCATTTCCTGTCTCCTCTCTTGCCTTGCCCCTGGCCCCCGCCAAGCTTGTCGGCCTCAGCTGGAGCCCTGACCCCTGCTCAGCCACCTATGACCTATCAGGTGGGTGGCAGGGGCCTGAGACCTAGAGGCGAGCACGGACACCCAGGTGCCTCAGGACCCTAAAGGAGCCTAGCAGGAGGAAGAGAGGCTGCGGGGGTTGCCGAGCGGCCACTCTCATCTGCTCAACAGCCGGTTCTCTGGCGCAATGGATAGCGCATTAGACTTTTAGCTGAGCCTGGTGTGGTCTAATTTGCTCAAGGGCTCATCATTGAGCCTGGACAGAATTGCATGCACATCGTGATTGGATTTCCTTCAGCTCTGCTGGAAATGGAGGAAACGTCCAGCACTATAGAATTAGGCCAGGTTCCCAGCAGAACTTCCCCACAGGATGCCCCACTCAAGCGCGCTCAGACCAGTGGCCATCTTCTGTGTGGGGGCCTGGGCGCCTGTGGCTGGGAGGCTGGGGCTGGATGAGGAAAGCCTCCAATGCTAGGTAGGATGGAGCCTCTGCTGCCCCAGCCAGTCCAGATGCAAGAACGCCATGGGCACAGGGGAGGCCATGATGCCCCGTTCTCCCTATCCAGCCCCAAGCCCAGTCACCGGGGAAGCATCCCTCATTTCCCTGCATCCCTGTCTGGATGGCGACAGTGACCAGGAGCGCCTTCAGCCTCTCCCAGCCTCCTCCAAAGCCTGGTCCCCTCTGGCCCACCCCATTGGCTCCTCTGCCCAGCCATGCCATGCCTCCCTCTTCCTCCCCCGAACTTCCCCTAAAGGCTACCACCACCCATGACTTCCCTCTTTCCTAGCCCCTGACCCAGGGTGTCAGCACTGCCCGCTATGGCAGCCCTGAGATGGCCCACAGTGGGAAGTACCTGTCTCAGCTCCAGGTCGGACATGGCCCTCTTGCCGCCCCTCGGGCAGTTCTGGAAGTAGCACGCGGAGGAGAAGGCCAGTAGGCCGAGGAAGCAGGCGGGCAGCATGGTGTCAGGCATCCTGGTGCACACAGGTGGACCCCGTATGCAGCACTGCTTGGTGGCTCTGTGCTGCTGCCTCTGCTGGCTGCCTATTTATGTCCGCAGGTGTTCCCGTGGAGGCGAGACGCGGCCGCCACCCCCTCCCCAGTGGCTCCCCAGGAGCCCACGGCCGCCAGGTCCCCAGCCGTCAGCAGTGATTCAGGCATCTGGGGACACACGTGGGCCTGTCTGTGCAGGGGATCATAGGGGAGGGGTACGGGCCGCCAGGCTGTCATGGGCCGCGGAATGACAGCAATTGCCTCTACTGTGACTGCAGCGCTCTGGATTCAGGGAGAGGGACAGACTGGGGGGTCACCTGGAGACCATCTCTGAGCTTTCTGATTACCCAGAAATGGCGTAGGGTCCAAGAAGAGGGTAAGAGGAACCGAGGGGCTGCGTGTTAGGGGCAGGGACAGGCCCTGGCCTAGGAGCTGTGGGGCAGGGGACAGCCAGGTGTGTGGGGAGGGTTAGCCCTGTGACAACAAGATAAGGGACCAAGAACAGCACA
Task1_train_27623
Consider this mutation in AVP (arginine vasopressin) on Chromosome 20. Is this a benign change or a disease-causing variant?
Pathogenic; Neurohypophyseal diabetes insipidus
GAGGTTTATTGTCCGTGCTGCAGGGGCGGGCGCGAAGAGCGCGCCGGTGGGGCGAGCGCGGGGCTCAGTAGGCGTCGGGCTGGGCGGGCTCGAAGGGCTCGGGCGCCCCGGCCAGCTGCACCAGCCGCAGCAGCAAGGCCCCGGCCGGCCCGTCCAGCTGCGTGGCGTTGCTCCGGTCGCTGGCGCGGGCGCGGCGGTGAAAGCCCTCGCGGCACTCGGGCTCGGTCACGCAGCTCTCTGCCGGGAGGACGTGTGAGCACGGGCGCCCTGGGGCGGGCGCAGCTCGGGGTGCGGGGGGCCCACACCCTCCCTGCCGGGCCCGACGCAGCCCCCACCCCGCCGCAGGCCCGCGTCCCCCCCACCCAAGCGGTCTGCGCCCCCCCCAGCCCCAGGCCCGCCCCCGCCGCGCACCGTCGTTGCAGCAAACGCCGAAGGCGGCGCAGCGGCCCCCGCTCCCGCACGCCTTCTGGCCGGACTGGCAGGGCGACGGCAGGTAGTTCTCCTCCTGGCAGCGCAGCGCCTCAGCCGTGCCCACGAAGCAGCCCAGCTCGTCCGCGCAGCAGATGCTGGGCCCGAAGCAGCGGCCTTTGCCCCCGGGGCCGCAGGGGAGGCACTGCGGGGACGGGCGGGGTGAGCGGGAGGAGGGGAGCCGGGAGTCGAGGGGTTGGAGGGGAACGCAGCGAGGCGGGGATGCTGGGGTCCAGGGCTCGGAGTGCGGGCGGGACACCGGGGCTGCGGCTGCAGGCACGCTCGGGCGCCACTGGGCCTCGACCGCGGTCACGGGCGGGGCGTCCAGATCTGCTCGGCACCTTGGTTTCTTGGATGACCTCTCGGTGACAGCCCTCAGCGTCCTCACCCTCAGCTAGGGACGGGTCTCCCGTGGACTACAGCGTGGGGAACCCTTCCTCGAGCCTCGGGGTCATCGCTGGTGGGCGCCACTGTTGCAGCTGCCCCACCCTCCACCACTCCAGACCCTTCCTCCTTCCTCCTCGCCCTGCTGCGGCTTGAGCCCGGGCCCACCCCCTTCCCCACTACACCATGCGGAGAGGCCCTACCCATCCAGAACCCCGGCCCTTCCCATTTCCTGTCTCCTCTCTTGCCTTGCCCCTGGCCCCCGCCAAGCTTGTCGGCCTCAGCTGGAGCCCTGACCCCTGCTCAGCCACCTATGACCTATCAGGTGGGTGGCAGGGGCCTGAGACCTAGAGGCGAGCACGGACACCCAGGTGCCTCAGGACCCTAAAGGAGCCTAGCAGGAGGAAGAGAGGCTGCGGGGGTTGCCGAGCGGCCACTCTCATCTGCTCAACAGCCGGTTCTCTGGCGCAATGGATAGCGCATTAGACTTTTAGCTGAGCCTGGTGTGGTCTAATTTGCTCAAGGGCTCATCATTGAGCCTGGACAGAATTGCATGCACATCGTGATTGGATTTCCTTCAGCTCTGCTGGAAATGGAGGAAACGTCCAGCACTATAGAATTAGGCCAGGTTCCCAGCAGAACTTCCCCACAGGATGCCCCACTCAAGCGCGCTCAGACCAGTGGCCATCTTCTGTGTGGGGGCCTGGGCGCCTGTGGCTGGGAGGCTGGGGCTGGATGAGGAAAGCCTCCAATGCTAGGTAGGATGGAGCCTCTGCTGCCCCAGCCAGTCCAGATGCAAGAACGCCATGGGCACAGGGGAGGCCATGATGCCCCGTTCTCCCTATCCAGCCCCAAGCCCAGTCACCGGGGAAGCATCCCTCATTTCCCTGCATCCCTGTCTGGATGGCGACAGTGACCAGGAGCGCCTTCAGCCTCTCCCAGCCTCCTCCAAAGCCTGGTCCCCTCTGGCCCACCCCATTGGCTCCTCTGCCCAGCCATGCCATGCCTCCCTCTTCCTCCCCCGAACTTCCCCTAAAGGCTACCACCACCCATGACTTCCCTCTTTCCTAGCCCCTGACCCAGGGTGTCAGCACTGCCCGCTATGGCAGCCCTGAGATGGCCCACAGTGGGAAGTACCTGTCTCAGCTCCAGGTCGGACATGGCCCTCTTGCCGCCCCTCGGGCAGTTCTGGAAGTAGCACGCGGAGGAGAAGGCCAGTAGGCCGAGGAAGCAGGCGGGCAGCATGGTGTCAGGCATCCTGGTGCACACAGGTGGACCCCGTATGCAGCACTGCTTGGTGGCTCTGTGCTGCTGCCTCTGCTGGCTGCCTATTTATGTCCGCAGGTGTTCCCGTGGAGGCGAGACGCGGCCGCCACCCCCTCCCCAGTGGCTCCCCAGGAGCCCACGGCCGCCAGGTCCCCAGCCGTCAGCAGTGATTCAGGCATCTGGGGACACACGTGGGCCTGTCTGTGCAGGGGATCATAGGGGAGGGGTACGGGCCGCCAGGCTGTCATGGGCCGCGGAATGACAGCAATTGCCTCTACTGTGACTGCAGCGCTCTGGATTCAGGGAGAGGGACAGACTGGGGGGTCACCTGGAGACCATCTCTGAGCTTTCTGATTACCCAGAAATGGCGTAGGGTCCAAGAAGAGGGTAAGAGGAACCGAGGGGCTGCGTGTTAGGGGCAGGGACAGGCCCTGGCCTAGGAGCTGTGGGGCAGGGGACAGCCAGGTGTGTGGGGAGGGTTAGCCCTGTGACAACAAGATAAGGGACCAAGAACAGCACAAGCCCAGAGTGGTGAGGACAGGGGCTGCACCAGAGATGAGAATCCCTGCCTCGTGGACAAGGCAGCCGCCGTCGTGGAGTCAAGGGACACAGAATGAGAGGGGCTTGTTCTCACAGGGTAGGGGGGTGGCAGGTTGCTGGGGAAAGTGCAAGACATGACACCCCCGCACCCCCATAGAGCAGGGCATGGGGACTCAGGCCCTGAAACTGGGGGCCTTGGGGACACATTGGCACATGACCCGTCACCCCCTCCCAGGTAGAAACATGAGTGTGGAGAGCTACTATGGGGAGAAAGAACTCCATGCCAAGTAAGGTTCAAAGGCGGGGGGAGCCCCAGGAAACCTGACAACAGTTTGTCCCAATTCCTACCCCCACCAGGACCTTAGTATGTGGCAACCAGGGCAGGTACATCTCAGGCCTGGGGTGGGAGAGCCGGGGGTGGGGGGTGTCTGGGCCTGGGGGAAGGTGCAGGAGGAGCCATACCTAAATGGACCCAGCCTGAGAAAGCCACTTTTGGTCCCTAATCCCAAGGTGGCAGGTCTAAAGAGGACATGGCCTCTCTCCCTGGGCCACCAGAATGCCCCGCTGGTCTGGGGTTCAGGCCCGGTACCCCCTGCCTCTCAAGCTGTGCGCAGTCCCCAGCTCTCGCAGTTCCCACAGGCTCTTGGCCTCCTCTCCAGGGTGCATAGAGGTGCTGCGAGGAAATTCCAGGGGACACAGCAGCCCCATCTCCAGCAAGGGCAGTGAGGGGGCCAGCAACCCAGGAGGGGCCTCCTATACTCAGGCCATGGCGTCGGTCTTTTCAGGAATGACCCCTCAGGGACTGCAAGGACCCTTTGAGAGGCAACACTGGGCAGTTGTTATTGCAGGAACACTGGCTCCCAATAGCTTGGCTCAGGGTCTGGCCTCTGTTGCTCGACACTTCATGGCTTGGGCAGCTCACTGGACTTCTCTGTGCCTTACTTTCTGCCAGTGTGAAGTAAGGAAAATCATGGTACCCACCTCCTAGGGTCAATGTGAGGACAGAAATAAATAATTTATTATACAAAAGCTTTAGAGCCAGGCATGGCAGCTTATGCCTGTAATCCCAGCTACTTGGGAGACCCAGACAGGAGGTTGAGACCAGTCTCGGCAACATAGCAAGACCCCATCTCTATTTTTTTTTTTTTTTTTTGAGACAGAGTCTCACTCTGTCAACCCAGGCTGGAGTGCAGTGGCACAATCTCGGCTCAGTACAACCTCCACCTCCCGGGTTCAAGCGATCCTCCTGCCTTAGCCTCCCAAGTAGCTGGGATTACAGGCACGCGTCACCACGCCAGGTTAATTTTTGTATTTTTAGTAGAAATGGGGTTTCACCATATTGGCCAGTCTGGTCTTGAACTCCTGGCTTCAAGTGATCCACCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCGTGCTCGGCCCC
GAGGTTTATTGTCCGTGCTGCAGGGGCGGGCGCGAAGAGCGCGCCGGTGGGGCGAGCGCGGGGCTCAGTAGGCGTCGGGCTGGGCGGGCTCGAAGGGCTCGGGCGCCCCGGCCAGCTGCACCAGCCGCAGCAGCAAGGCCCCGGCCGGCCCGTCCAGCTGCGTGGCGTTGCTCCGGTCGCTGGCGCGGGCGCGGCGGTGAAAGCCCTCGCGGCACTCGGGCTCGGTCACGCAGCTCTCTGCCGGGAGGACGTGTGAGCACGGGCGCCCTGGGGCGGGCGCAGCTCGGGGTGCGGGGGGCCCACACCCTCCCTGCCGGGCCCGACGCAGCCCCCACCCCGCCGCAGGCCCGCGTCCCCCCCACCCAAGCGGTCTGCGCCCCCCCCAGCCCCAGGCCCGCCCCCGCCGCGCACCGTCGTTGCAGCAAACGCCGAAGGCGGCGCAGCGGCCCCCGCTCCCGCACGCCTTCTGGCCGGACTGGCAGGGCGACGGCAGGTAGTTCTCCTCCTGGCAGCGCAGCGCCTCAGCCGTGCCCACGAAGCAGCCCAGCTCGTCCGCGCAGCAGATGCTGGGCCCGAAGCAGCGGCCTTTGCCCCCGGGGCCGCAGGGGAGGCACTGCGGGGACGGGCGGGGTGAGCGGGAGGAGGGGAGCCGGGAGTCGAGGGGTTGGAGGGGAACGCAGCGAGGCGGGGATGCTGGGGTCCAGGGCTCGGAGTGCGGGCGGGACACCGGGGCTGCGGCTGCAGGCACGCTCGGGCGCCACTGGGCCTCGACCGCGGTCACGGGCGGGGCGTCCAGATCTGCTCGGCACCTTGGTTTCTTGGATGACCTCTCGGTGACAGCCCTCAGCGTCCTCACCCTCAGCTAGGGACGGGTCTCCCGTGGACTACAGCGTGGGGAACCCTTCCTCGAGCCTCGGGGTCATCGCTGGTGGGCGCCACTGTTGCAGCTGCCCCACCCTCCACCACTCCAGACCCTTCCTCCTTCCTCCTCGCCCTGCTGCGGCTTGAGCCCGGGCCCACCCCCTTCCCCACTACACCATGCGGAGAGGCCCTACCCATCCAGAACCCCGGCCCTTCCCATTTCCTGTCTCCTCTCTTGCCTTGCCCCTGGCCCCCGCCAAGCTTGTCGGCCTCAGCTGGAGCCCTGACCCCTGCTCAGCCACCTATGACCTATCAGGTGGGTGGCAGGGGCCTGAGACCTAGAGGCGAGCACGGACACCCAGGTGCCTCAGGACCCTAAAGGAGCCTAGCAGGAGGAAGAGAGGCTGCGGGGGTTGCCGAGCGGCCACTCTCATCTGCTCAACAGCCGGTTCTCTGGCGCAATGGATAGCGCATTAGACTTTTAGCTGAGCCTGGTGTGGTCTAATTTGCTCAAGGGCTCATCATTGAGCCTGGACAGAATTGCATGCACATCGTGATTGGATTTCCTTCAGCTCTGCTGGAAATGGAGGAAACGTCCAGCACTATAGAATTAGGCCAGGTTCCCAGCAGAACTTCCCCACAGGATGCCCCACTCAAGCGCGCTCAGACCAGTGGCCATCTTCTGTGTGGGGGCCTGGGCGCCTGTGGCTGGGAGGCTGGGGCTGGATGAGGAAAGCCTCCAATGCTAGGTAGGATGGAGCCTCTGCTGCCCCAGCCAGTCCAGATGCAAGAACGCCATGGGCACAGGGGAGGCCATGATGCCCCGTTCTCCCTATCCAGCCCCAAGCCCAGTCACCGGGGAAGCATCCCTCATTTCCCTGCATCCCTGTCTGGATGGCGACAGTGACCAGGAGCGCCTTCAGCCTCTCCCAGCCTCCTCCAAAGCCTGGTCCCCTCTGGCCCACCCCATTGGCTCCTCTGCCCAGCCATGCCATGCCTCCCTCTTCCTCCCCCGAACTTCCCCTAAAGGCTACCACCACCCATGACTTCCCTCTTTCCTAGCCCCTGACCCAGGGTGTCAGCACTGCCCGCTATGGCAGCCCTGAGATGGCCCACAGTGGGAAGTACCTGTCTCAGCTCCAGGTCGGACATGGCCCTCTTGCCGCCCCTCGGGCAGTTCTGGAAGTGGCACGCGGAGGAGAAGGCCAGTAGGCCGAGGAAGCAGGCGGGCAGCATGGTGTCAGGCATCCTGGTGCACACAGGTGGACCCCGTATGCAGCACTGCTTGGTGGCTCTGTGCTGCTGCCTCTGCTGGCTGCCTATTTATGTCCGCAGGTGTTCCCGTGGAGGCGAGACGCGGCCGCCACCCCCTCCCCAGTGGCTCCCCAGGAGCCCACGGCCGCCAGGTCCCCAGCCGTCAGCAGTGATTCAGGCATCTGGGGACACACGTGGGCCTGTCTGTGCAGGGGATCATAGGGGAGGGGTACGGGCCGCCAGGCTGTCATGGGCCGCGGAATGACAGCAATTGCCTCTACTGTGACTGCAGCGCTCTGGATTCAGGGAGAGGGACAGACTGGGGGGTCACCTGGAGACCATCTCTGAGCTTTCTGATTACCCAGAAATGGCGTAGGGTCCAAGAAGAGGGTAAGAGGAACCGAGGGGCTGCGTGTTAGGGGCAGGGACAGGCCCTGGCCTAGGAGCTGTGGGGCAGGGGACAGCCAGGTGTGTGGGGAGGGTTAGCCCTGTGACAACAAGATAAGGGACCAAGAACAGCACAAGCCCAGAGTGGTGAGGACAGGGGCTGCACCAGAGATGAGAATCCCTGCCTCGTGGACAAGGCAGCCGCCGTCGTGGAGTCAAGGGACACAGAATGAGAGGGGCTTGTTCTCACAGGGTAGGGGGGTGGCAGGTTGCTGGGGAAAGTGCAAGACATGACACCCCCGCACCCCCATAGAGCAGGGCATGGGGACTCAGGCCCTGAAACTGGGGGCCTTGGGGACACATTGGCACATGACCCGTCACCCCCTCCCAGGTAGAAACATGAGTGTGGAGAGCTACTATGGGGAGAAAGAACTCCATGCCAAGTAAGGTTCAAAGGCGGGGGGAGCCCCAGGAAACCTGACAACAGTTTGTCCCAATTCCTACCCCCACCAGGACCTTAGTATGTGGCAACCAGGGCAGGTACATCTCAGGCCTGGGGTGGGAGAGCCGGGGGTGGGGGGTGTCTGGGCCTGGGGGAAGGTGCAGGAGGAGCCATACCTAAATGGACCCAGCCTGAGAAAGCCACTTTTGGTCCCTAATCCCAAGGTGGCAGGTCTAAAGAGGACATGGCCTCTCTCCCTGGGCCACCAGAATGCCCCGCTGGTCTGGGGTTCAGGCCCGGTACCCCCTGCCTCTCAAGCTGTGCGCAGTCCCCAGCTCTCGCAGTTCCCACAGGCTCTTGGCCTCCTCTCCAGGGTGCATAGAGGTGCTGCGAGGAAATTCCAGGGGACACAGCAGCCCCATCTCCAGCAAGGGCAGTGAGGGGGCCAGCAACCCAGGAGGGGCCTCCTATACTCAGGCCATGGCGTCGGTCTTTTCAGGAATGACCCCTCAGGGACTGCAAGGACCCTTTGAGAGGCAACACTGGGCAGTTGTTATTGCAGGAACACTGGCTCCCAATAGCTTGGCTCAGGGTCTGGCCTCTGTTGCTCGACACTTCATGGCTTGGGCAGCTCACTGGACTTCTCTGTGCCTTACTTTCTGCCAGTGTGAAGTAAGGAAAATCATGGTACCCACCTCCTAGGGTCAATGTGAGGACAGAAATAAATAATTTATTATACAAAAGCTTTAGAGCCAGGCATGGCAGCTTATGCCTGTAATCCCAGCTACTTGGGAGACCCAGACAGGAGGTTGAGACCAGTCTCGGCAACATAGCAAGACCCCATCTCTATTTTTTTTTTTTTTTTTTGAGACAGAGTCTCACTCTGTCAACCCAGGCTGGAGTGCAGTGGCACAATCTCGGCTCAGTACAACCTCCACCTCCCGGGTTCAAGCGATCCTCCTGCCTTAGCCTCCCAAGTAGCTGGGATTACAGGCACGCGTCACCACGCCAGGTTAATTTTTGTATTTTTAGTAGAAATGGGGTTTCACCATATTGGCCAGTCTGGTCTTGAACTCCTGGCTTCAAGTGATCCACCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCGTGCTCGGCCCC
Task1_train_27624
A mutation found in AVP (arginine vasopressin) on Chromosome 20 may be clinically relevant. Is it pathogenic or benign, and if the former, which disease is implicated?
Pathogenic; Neurohypophyseal diabetes insipidus
TTATTGTCCGTGCTGCAGGGGCGGGCGCGAAGAGCGCGCCGGTGGGGCGAGCGCGGGGCTCAGTAGGCGTCGGGCTGGGCGGGCTCGAAGGGCTCGGGCGCCCCGGCCAGCTGCACCAGCCGCAGCAGCAAGGCCCCGGCCGGCCCGTCCAGCTGCGTGGCGTTGCTCCGGTCGCTGGCGCGGGCGCGGCGGTGAAAGCCCTCGCGGCACTCGGGCTCGGTCACGCAGCTCTCTGCCGGGAGGACGTGTGAGCACGGGCGCCCTGGGGCGGGCGCAGCTCGGGGTGCGGGGGGCCCACACCCTCCCTGCCGGGCCCGACGCAGCCCCCACCCCGCCGCAGGCCCGCGTCCCCCCCACCCAAGCGGTCTGCGCCCCCCCCAGCCCCAGGCCCGCCCCCGCCGCGCACCGTCGTTGCAGCAAACGCCGAAGGCGGCGCAGCGGCCCCCGCTCCCGCACGCCTTCTGGCCGGACTGGCAGGGCGACGGCAGGTAGTTCTCCTCCTGGCAGCGCAGCGCCTCAGCCGTGCCCACGAAGCAGCCCAGCTCGTCCGCGCAGCAGATGCTGGGCCCGAAGCAGCGGCCTTTGCCCCCGGGGCCGCAGGGGAGGCACTGCGGGGACGGGCGGGGTGAGCGGGAGGAGGGGAGCCGGGAGTCGAGGGGTTGGAGGGGAACGCAGCGAGGCGGGGATGCTGGGGTCCAGGGCTCGGAGTGCGGGCGGGACACCGGGGCTGCGGCTGCAGGCACGCTCGGGCGCCACTGGGCCTCGACCGCGGTCACGGGCGGGGCGTCCAGATCTGCTCGGCACCTTGGTTTCTTGGATGACCTCTCGGTGACAGCCCTCAGCGTCCTCACCCTCAGCTAGGGACGGGTCTCCCGTGGACTACAGCGTGGGGAACCCTTCCTCGAGCCTCGGGGTCATCGCTGGTGGGCGCCACTGTTGCAGCTGCCCCACCCTCCACCACTCCAGACCCTTCCTCCTTCCTCCTCGCCCTGCTGCGGCTTGAGCCCGGGCCCACCCCCTTCCCCACTACACCATGCGGAGAGGCCCTACCCATCCAGAACCCCGGCCCTTCCCATTTCCTGTCTCCTCTCTTGCCTTGCCCCTGGCCCCCGCCAAGCTTGTCGGCCTCAGCTGGAGCCCTGACCCCTGCTCAGCCACCTATGACCTATCAGGTGGGTGGCAGGGGCCTGAGACCTAGAGGCGAGCACGGACACCCAGGTGCCTCAGGACCCTAAAGGAGCCTAGCAGGAGGAAGAGAGGCTGCGGGGGTTGCCGAGCGGCCACTCTCATCTGCTCAACAGCCGGTTCTCTGGCGCAATGGATAGCGCATTAGACTTTTAGCTGAGCCTGGTGTGGTCTAATTTGCTCAAGGGCTCATCATTGAGCCTGGACAGAATTGCATGCACATCGTGATTGGATTTCCTTCAGCTCTGCTGGAAATGGAGGAAACGTCCAGCACTATAGAATTAGGCCAGGTTCCCAGCAGAACTTCCCCACAGGATGCCCCACTCAAGCGCGCTCAGACCAGTGGCCATCTTCTGTGTGGGGGCCTGGGCGCCTGTGGCTGGGAGGCTGGGGCTGGATGAGGAAAGCCTCCAATGCTAGGTAGGATGGAGCCTCTGCTGCCCCAGCCAGTCCAGATGCAAGAACGCCATGGGCACAGGGGAGGCCATGATGCCCCGTTCTCCCTATCCAGCCCCAAGCCCAGTCACCGGGGAAGCATCCCTCATTTCCCTGCATCCCTGTCTGGATGGCGACAGTGACCAGGAGCGCCTTCAGCCTCTCCCAGCCTCCTCCAAAGCCTGGTCCCCTCTGGCCCACCCCATTGGCTCCTCTGCCCAGCCATGCCATGCCTCCCTCTTCCTCCCCCGAACTTCCCCTAAAGGCTACCACCACCCATGACTTCCCTCTTTCCTAGCCCCTGACCCAGGGTGTCAGCACTGCCCGCTATGGCAGCCCTGAGATGGCCCACAGTGGGAAGTACCTGTCTCAGCTCCAGGTCGGACATGGCCCTCTTGCCGCCCCTCGGGCAGTTCTGGAAGTAGCACGCGGAGGAGAAGGCCAGTAGGCCGAGGAAGCAGGCGGGCAGCATGGTGTCAGGCATCCTGGTGCACACAGGTGGACCCCGTATGCAGCACTGCTTGGTGGCTCTGTGCTGCTGCCTCTGCTGGCTGCCTATTTATGTCCGCAGGTGTTCCCGTGGAGGCGAGACGCGGCCGCCACCCCCTCCCCAGTGGCTCCCCAGGAGCCCACGGCCGCCAGGTCCCCAGCCGTCAGCAGTGATTCAGGCATCTGGGGACACACGTGGGCCTGTCTGTGCAGGGGATCATAGGGGAGGGGTACGGGCCGCCAGGCTGTCATGGGCCGCGGAATGACAGCAATTGCCTCTACTGTGACTGCAGCGCTCTGGATTCAGGGAGAGGGACAGACTGGGGGGTCACCTGGAGACCATCTCTGAGCTTTCTGATTACCCAGAAATGGCGTAGGGTCCAAGAAGAGGGTAAGAGGAACCGAGGGGCTGCGTGTTAGGGGCAGGGACAGGCCCTGGCCTAGGAGCTGTGGGGCAGGGGACAGCCAGGTGTGTGGGGAGGGTTAGCCCTGTGACAACAAGATAAGGGACCAAGAACAGCACAAGCCCAGAGTGGTGAGGACAGGGGCTGCACCAGAGATGAGAATCCCTGCCTCGTGGACAAGGCAGCCGCCGTCGTGGAGTCAAGGGACACAGAATGAGAGGGGCTTGTTCTCACAGGGTAGGGGGGTGGCAGGTTGCTGGGGAAAGTGCAAGACATGACACCCCCGCACCCCCATAGAGCAGGGCATGGGGACTCAGGCCCTGAAACTGGGGGCCTTGGGGACACATTGGCACATGACCCGTCACCCCCTCCCAGGTAGAAACATGAGTGTGGAGAGCTACTATGGGGAGAAAGAACTCCATGCCAAGTAAGGTTCAAAGGCGGGGGGAGCCCCAGGAAACCTGACAACAGTTTGTCCCAATTCCTACCCCCACCAGGACCTTAGTATGTGGCAACCAGGGCAGGTACATCTCAGGCCTGGGGTGGGAGAGCCGGGGGTGGGGGGTGTCTGGGCCTGGGGGAAGGTGCAGGAGGAGCCATACCTAAATGGACCCAGCCTGAGAAAGCCACTTTTGGTCCCTAATCCCAAGGTGGCAGGTCTAAAGAGGACATGGCCTCTCTCCCTGGGCCACCAGAATGCCCCGCTGGTCTGGGGTTCAGGCCCGGTACCCCCTGCCTCTCAAGCTGTGCGCAGTCCCCAGCTCTCGCAGTTCCCACAGGCTCTTGGCCTCCTCTCCAGGGTGCATAGAGGTGCTGCGAGGAAATTCCAGGGGACACAGCAGCCCCATCTCCAGCAAGGGCAGTGAGGGGGCCAGCAACCCAGGAGGGGCCTCCTATACTCAGGCCATGGCGTCGGTCTTTTCAGGAATGACCCCTCAGGGACTGCAAGGACCCTTTGAGAGGCAACACTGGGCAGTTGTTATTGCAGGAACACTGGCTCCCAATAGCTTGGCTCAGGGTCTGGCCTCTGTTGCTCGACACTTCATGGCTTGGGCAGCTCACTGGACTTCTCTGTGCCTTACTTTCTGCCAGTGTGAAGTAAGGAAAATCATGGTACCCACCTCCTAGGGTCAATGTGAGGACAGAAATAAATAATTTATTATACAAAAGCTTTAGAGCCAGGCATGGCAGCTTATGCCTGTAATCCCAGCTACTTGGGAGACCCAGACAGGAGGTTGAGACCAGTCTCGGCAACATAGCAAGACCCCATCTCTATTTTTTTTTTTTTTTTTTGAGACAGAGTCTCACTCTGTCAACCCAGGCTGGAGTGCAGTGGCACAATCTCGGCTCAGTACAACCTCCACCTCCCGGGTTCAAGCGATCCTCCTGCCTTAGCCTCCCAAGTAGCTGGGATTACAGGCACGCGTCACCACGCCAGGTTAATTTTTGTATTTTTAGTAGAAATGGGGTTTCACCATATTGGCCAGTCTGGTCTTGAACTCCTGGCTTCAAGTGATCCACCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCGTGCTCGGCCCCATCTC
TTATTGTCCGTGCTGCAGGGGCGGGCGCGAAGAGCGCGCCGGTGGGGCGAGCGCGGGGCTCAGTAGGCGTCGGGCTGGGCGGGCTCGAAGGGCTCGGGCGCCCCGGCCAGCTGCACCAGCCGCAGCAGCAAGGCCCCGGCCGGCCCGTCCAGCTGCGTGGCGTTGCTCCGGTCGCTGGCGCGGGCGCGGCGGTGAAAGCCCTCGCGGCACTCGGGCTCGGTCACGCAGCTCTCTGCCGGGAGGACGTGTGAGCACGGGCGCCCTGGGGCGGGCGCAGCTCGGGGTGCGGGGGGCCCACACCCTCCCTGCCGGGCCCGACGCAGCCCCCACCCCGCCGCAGGCCCGCGTCCCCCCCACCCAAGCGGTCTGCGCCCCCCCCAGCCCCAGGCCCGCCCCCGCCGCGCACCGTCGTTGCAGCAAACGCCGAAGGCGGCGCAGCGGCCCCCGCTCCCGCACGCCTTCTGGCCGGACTGGCAGGGCGACGGCAGGTAGTTCTCCTCCTGGCAGCGCAGCGCCTCAGCCGTGCCCACGAAGCAGCCCAGCTCGTCCGCGCAGCAGATGCTGGGCCCGAAGCAGCGGCCTTTGCCCCCGGGGCCGCAGGGGAGGCACTGCGGGGACGGGCGGGGTGAGCGGGAGGAGGGGAGCCGGGAGTCGAGGGGTTGGAGGGGAACGCAGCGAGGCGGGGATGCTGGGGTCCAGGGCTCGGAGTGCGGGCGGGACACCGGGGCTGCGGCTGCAGGCACGCTCGGGCGCCACTGGGCCTCGACCGCGGTCACGGGCGGGGCGTCCAGATCTGCTCGGCACCTTGGTTTCTTGGATGACCTCTCGGTGACAGCCCTCAGCGTCCTCACCCTCAGCTAGGGACGGGTCTCCCGTGGACTACAGCGTGGGGAACCCTTCCTCGAGCCTCGGGGTCATCGCTGGTGGGCGCCACTGTTGCAGCTGCCCCACCCTCCACCACTCCAGACCCTTCCTCCTTCCTCCTCGCCCTGCTGCGGCTTGAGCCCGGGCCCACCCCCTTCCCCACTACACCATGCGGAGAGGCCCTACCCATCCAGAACCCCGGCCCTTCCCATTTCCTGTCTCCTCTCTTGCCTTGCCCCTGGCCCCCGCCAAGCTTGTCGGCCTCAGCTGGAGCCCTGACCCCTGCTCAGCCACCTATGACCTATCAGGTGGGTGGCAGGGGCCTGAGACCTAGAGGCGAGCACGGACACCCAGGTGCCTCAGGACCCTAAAGGAGCCTAGCAGGAGGAAGAGAGGCTGCGGGGGTTGCCGAGCGGCCACTCTCATCTGCTCAACAGCCGGTTCTCTGGCGCAATGGATAGCGCATTAGACTTTTAGCTGAGCCTGGTGTGGTCTAATTTGCTCAAGGGCTCATCATTGAGCCTGGACAGAATTGCATGCACATCGTGATTGGATTTCCTTCAGCTCTGCTGGAAATGGAGGAAACGTCCAGCACTATAGAATTAGGCCAGGTTCCCAGCAGAACTTCCCCACAGGATGCCCCACTCAAGCGCGCTCAGACCAGTGGCCATCTTCTGTGTGGGGGCCTGGGCGCCTGTGGCTGGGAGGCTGGGGCTGGATGAGGAAAGCCTCCAATGCTAGGTAGGATGGAGCCTCTGCTGCCCCAGCCAGTCCAGATGCAAGAACGCCATGGGCACAGGGGAGGCCATGATGCCCCGTTCTCCCTATCCAGCCCCAAGCCCAGTCACCGGGGAAGCATCCCTCATTTCCCTGCATCCCTGTCTGGATGGCGACAGTGACCAGGAGCGCCTTCAGCCTCTCCCAGCCTCCTCCAAAGCCTGGTCCCCTCTGGCCCACCCCATTGGCTCCTCTGCCCAGCCATGCCATGCCTCCCTCTTCCTCCCCCGAACTTCCCCTAAAGGCTACCACCACCCATGACTTCCCTCTTTCCTAGCCCCTGACCCAGGGTGTCAGCACTGCCCGCTATGGCAGCCCTGAGATGGCCCACAGTGGGAAGTACCTGTCTCAGCTCCAGGTCGGACATGGCCCTCTTGCCGCCCCTCGGGCAGTTCTGGAAGTAGCACACGGAGGAGAAGGCCAGTAGGCCGAGGAAGCAGGCGGGCAGCATGGTGTCAGGCATCCTGGTGCACACAGGTGGACCCCGTATGCAGCACTGCTTGGTGGCTCTGTGCTGCTGCCTCTGCTGGCTGCCTATTTATGTCCGCAGGTGTTCCCGTGGAGGCGAGACGCGGCCGCCACCCCCTCCCCAGTGGCTCCCCAGGAGCCCACGGCCGCCAGGTCCCCAGCCGTCAGCAGTGATTCAGGCATCTGGGGACACACGTGGGCCTGTCTGTGCAGGGGATCATAGGGGAGGGGTACGGGCCGCCAGGCTGTCATGGGCCGCGGAATGACAGCAATTGCCTCTACTGTGACTGCAGCGCTCTGGATTCAGGGAGAGGGACAGACTGGGGGGTCACCTGGAGACCATCTCTGAGCTTTCTGATTACCCAGAAATGGCGTAGGGTCCAAGAAGAGGGTAAGAGGAACCGAGGGGCTGCGTGTTAGGGGCAGGGACAGGCCCTGGCCTAGGAGCTGTGGGGCAGGGGACAGCCAGGTGTGTGGGGAGGGTTAGCCCTGTGACAACAAGATAAGGGACCAAGAACAGCACAAGCCCAGAGTGGTGAGGACAGGGGCTGCACCAGAGATGAGAATCCCTGCCTCGTGGACAAGGCAGCCGCCGTCGTGGAGTCAAGGGACACAGAATGAGAGGGGCTTGTTCTCACAGGGTAGGGGGGTGGCAGGTTGCTGGGGAAAGTGCAAGACATGACACCCCCGCACCCCCATAGAGCAGGGCATGGGGACTCAGGCCCTGAAACTGGGGGCCTTGGGGACACATTGGCACATGACCCGTCACCCCCTCCCAGGTAGAAACATGAGTGTGGAGAGCTACTATGGGGAGAAAGAACTCCATGCCAAGTAAGGTTCAAAGGCGGGGGGAGCCCCAGGAAACCTGACAACAGTTTGTCCCAATTCCTACCCCCACCAGGACCTTAGTATGTGGCAACCAGGGCAGGTACATCTCAGGCCTGGGGTGGGAGAGCCGGGGGTGGGGGGTGTCTGGGCCTGGGGGAAGGTGCAGGAGGAGCCATACCTAAATGGACCCAGCCTGAGAAAGCCACTTTTGGTCCCTAATCCCAAGGTGGCAGGTCTAAAGAGGACATGGCCTCTCTCCCTGGGCCACCAGAATGCCCCGCTGGTCTGGGGTTCAGGCCCGGTACCCCCTGCCTCTCAAGCTGTGCGCAGTCCCCAGCTCTCGCAGTTCCCACAGGCTCTTGGCCTCCTCTCCAGGGTGCATAGAGGTGCTGCGAGGAAATTCCAGGGGACACAGCAGCCCCATCTCCAGCAAGGGCAGTGAGGGGGCCAGCAACCCAGGAGGGGCCTCCTATACTCAGGCCATGGCGTCGGTCTTTTCAGGAATGACCCCTCAGGGACTGCAAGGACCCTTTGAGAGGCAACACTGGGCAGTTGTTATTGCAGGAACACTGGCTCCCAATAGCTTGGCTCAGGGTCTGGCCTCTGTTGCTCGACACTTCATGGCTTGGGCAGCTCACTGGACTTCTCTGTGCCTTACTTTCTGCCAGTGTGAAGTAAGGAAAATCATGGTACCCACCTCCTAGGGTCAATGTGAGGACAGAAATAAATAATTTATTATACAAAAGCTTTAGAGCCAGGCATGGCAGCTTATGCCTGTAATCCCAGCTACTTGGGAGACCCAGACAGGAGGTTGAGACCAGTCTCGGCAACATAGCAAGACCCCATCTCTATTTTTTTTTTTTTTTTTTGAGACAGAGTCTCACTCTGTCAACCCAGGCTGGAGTGCAGTGGCACAATCTCGGCTCAGTACAACCTCCACCTCCCGGGTTCAAGCGATCCTCCTGCCTTAGCCTCCCAAGTAGCTGGGATTACAGGCACGCGTCACCACGCCAGGTTAATTTTTGTATTTTTAGTAGAAATGGGGTTTCACCATATTGGCCAGTCTGGTCTTGAACTCCTGGCTTCAAGTGATCCACCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCGTGCTCGGCCCCATCTC
Task1_train_27625
A sequence alteration has been identified in AVP (arginine vasopressin) on Chromosome 20. Is it disease-inducing or harmless?
Pathogenic; Neurohypophyseal diabetes insipidus
TATTGTCCGTGCTGCAGGGGCGGGCGCGAAGAGCGCGCCGGTGGGGCGAGCGCGGGGCTCAGTAGGCGTCGGGCTGGGCGGGCTCGAAGGGCTCGGGCGCCCCGGCCAGCTGCACCAGCCGCAGCAGCAAGGCCCCGGCCGGCCCGTCCAGCTGCGTGGCGTTGCTCCGGTCGCTGGCGCGGGCGCGGCGGTGAAAGCCCTCGCGGCACTCGGGCTCGGTCACGCAGCTCTCTGCCGGGAGGACGTGTGAGCACGGGCGCCCTGGGGCGGGCGCAGCTCGGGGTGCGGGGGGCCCACACCCTCCCTGCCGGGCCCGACGCAGCCCCCACCCCGCCGCAGGCCCGCGTCCCCCCCACCCAAGCGGTCTGCGCCCCCCCCAGCCCCAGGCCCGCCCCCGCCGCGCACCGTCGTTGCAGCAAACGCCGAAGGCGGCGCAGCGGCCCCCGCTCCCGCACGCCTTCTGGCCGGACTGGCAGGGCGACGGCAGGTAGTTCTCCTCCTGGCAGCGCAGCGCCTCAGCCGTGCCCACGAAGCAGCCCAGCTCGTCCGCGCAGCAGATGCTGGGCCCGAAGCAGCGGCCTTTGCCCCCGGGGCCGCAGGGGAGGCACTGCGGGGACGGGCGGGGTGAGCGGGAGGAGGGGAGCCGGGAGTCGAGGGGTTGGAGGGGAACGCAGCGAGGCGGGGATGCTGGGGTCCAGGGCTCGGAGTGCGGGCGGGACACCGGGGCTGCGGCTGCAGGCACGCTCGGGCGCCACTGGGCCTCGACCGCGGTCACGGGCGGGGCGTCCAGATCTGCTCGGCACCTTGGTTTCTTGGATGACCTCTCGGTGACAGCCCTCAGCGTCCTCACCCTCAGCTAGGGACGGGTCTCCCGTGGACTACAGCGTGGGGAACCCTTCCTCGAGCCTCGGGGTCATCGCTGGTGGGCGCCACTGTTGCAGCTGCCCCACCCTCCACCACTCCAGACCCTTCCTCCTTCCTCCTCGCCCTGCTGCGGCTTGAGCCCGGGCCCACCCCCTTCCCCACTACACCATGCGGAGAGGCCCTACCCATCCAGAACCCCGGCCCTTCCCATTTCCTGTCTCCTCTCTTGCCTTGCCCCTGGCCCCCGCCAAGCTTGTCGGCCTCAGCTGGAGCCCTGACCCCTGCTCAGCCACCTATGACCTATCAGGTGGGTGGCAGGGGCCTGAGACCTAGAGGCGAGCACGGACACCCAGGTGCCTCAGGACCCTAAAGGAGCCTAGCAGGAGGAAGAGAGGCTGCGGGGGTTGCCGAGCGGCCACTCTCATCTGCTCAACAGCCGGTTCTCTGGCGCAATGGATAGCGCATTAGACTTTTAGCTGAGCCTGGTGTGGTCTAATTTGCTCAAGGGCTCATCATTGAGCCTGGACAGAATTGCATGCACATCGTGATTGGATTTCCTTCAGCTCTGCTGGAAATGGAGGAAACGTCCAGCACTATAGAATTAGGCCAGGTTCCCAGCAGAACTTCCCCACAGGATGCCCCACTCAAGCGCGCTCAGACCAGTGGCCATCTTCTGTGTGGGGGCCTGGGCGCCTGTGGCTGGGAGGCTGGGGCTGGATGAGGAAAGCCTCCAATGCTAGGTAGGATGGAGCCTCTGCTGCCCCAGCCAGTCCAGATGCAAGAACGCCATGGGCACAGGGGAGGCCATGATGCCCCGTTCTCCCTATCCAGCCCCAAGCCCAGTCACCGGGGAAGCATCCCTCATTTCCCTGCATCCCTGTCTGGATGGCGACAGTGACCAGGAGCGCCTTCAGCCTCTCCCAGCCTCCTCCAAAGCCTGGTCCCCTCTGGCCCACCCCATTGGCTCCTCTGCCCAGCCATGCCATGCCTCCCTCTTCCTCCCCCGAACTTCCCCTAAAGGCTACCACCACCCATGACTTCCCTCTTTCCTAGCCCCTGACCCAGGGTGTCAGCACTGCCCGCTATGGCAGCCCTGAGATGGCCCACAGTGGGAAGTACCTGTCTCAGCTCCAGGTCGGACATGGCCCTCTTGCCGCCCCTCGGGCAGTTCTGGAAGTAGCACGCGGAGGAGAAGGCCAGTAGGCCGAGGAAGCAGGCGGGCAGCATGGTGTCAGGCATCCTGGTGCACACAGGTGGACCCCGTATGCAGCACTGCTTGGTGGCTCTGTGCTGCTGCCTCTGCTGGCTGCCTATTTATGTCCGCAGGTGTTCCCGTGGAGGCGAGACGCGGCCGCCACCCCCTCCCCAGTGGCTCCCCAGGAGCCCACGGCCGCCAGGTCCCCAGCCGTCAGCAGTGATTCAGGCATCTGGGGACACACGTGGGCCTGTCTGTGCAGGGGATCATAGGGGAGGGGTACGGGCCGCCAGGCTGTCATGGGCCGCGGAATGACAGCAATTGCCTCTACTGTGACTGCAGCGCTCTGGATTCAGGGAGAGGGACAGACTGGGGGGTCACCTGGAGACCATCTCTGAGCTTTCTGATTACCCAGAAATGGCGTAGGGTCCAAGAAGAGGGTAAGAGGAACCGAGGGGCTGCGTGTTAGGGGCAGGGACAGGCCCTGGCCTAGGAGCTGTGGGGCAGGGGACAGCCAGGTGTGTGGGGAGGGTTAGCCCTGTGACAACAAGATAAGGGACCAAGAACAGCACAAGCCCAGAGTGGTGAGGACAGGGGCTGCACCAGAGATGAGAATCCCTGCCTCGTGGACAAGGCAGCCGCCGTCGTGGAGTCAAGGGACACAGAATGAGAGGGGCTTGTTCTCACAGGGTAGGGGGGTGGCAGGTTGCTGGGGAAAGTGCAAGACATGACACCCCCGCACCCCCATAGAGCAGGGCATGGGGACTCAGGCCCTGAAACTGGGGGCCTTGGGGACACATTGGCACATGACCCGTCACCCCCTCCCAGGTAGAAACATGAGTGTGGAGAGCTACTATGGGGAGAAAGAACTCCATGCCAAGTAAGGTTCAAAGGCGGGGGGAGCCCCAGGAAACCTGACAACAGTTTGTCCCAATTCCTACCCCCACCAGGACCTTAGTATGTGGCAACCAGGGCAGGTACATCTCAGGCCTGGGGTGGGAGAGCCGGGGGTGGGGGGTGTCTGGGCCTGGGGGAAGGTGCAGGAGGAGCCATACCTAAATGGACCCAGCCTGAGAAAGCCACTTTTGGTCCCTAATCCCAAGGTGGCAGGTCTAAAGAGGACATGGCCTCTCTCCCTGGGCCACCAGAATGCCCCGCTGGTCTGGGGTTCAGGCCCGGTACCCCCTGCCTCTCAAGCTGTGCGCAGTCCCCAGCTCTCGCAGTTCCCACAGGCTCTTGGCCTCCTCTCCAGGGTGCATAGAGGTGCTGCGAGGAAATTCCAGGGGACACAGCAGCCCCATCTCCAGCAAGGGCAGTGAGGGGGCCAGCAACCCAGGAGGGGCCTCCTATACTCAGGCCATGGCGTCGGTCTTTTCAGGAATGACCCCTCAGGGACTGCAAGGACCCTTTGAGAGGCAACACTGGGCAGTTGTTATTGCAGGAACACTGGCTCCCAATAGCTTGGCTCAGGGTCTGGCCTCTGTTGCTCGACACTTCATGGCTTGGGCAGCTCACTGGACTTCTCTGTGCCTTACTTTCTGCCAGTGTGAAGTAAGGAAAATCATGGTACCCACCTCCTAGGGTCAATGTGAGGACAGAAATAAATAATTTATTATACAAAAGCTTTAGAGCCAGGCATGGCAGCTTATGCCTGTAATCCCAGCTACTTGGGAGACCCAGACAGGAGGTTGAGACCAGTCTCGGCAACATAGCAAGACCCCATCTCTATTTTTTTTTTTTTTTTTTGAGACAGAGTCTCACTCTGTCAACCCAGGCTGGAGTGCAGTGGCACAATCTCGGCTCAGTACAACCTCCACCTCCCGGGTTCAAGCGATCCTCCTGCCTTAGCCTCCCAAGTAGCTGGGATTACAGGCACGCGTCACCACGCCAGGTTAATTTTTGTATTTTTAGTAGAAATGGGGTTTCACCATATTGGCCAGTCTGGTCTTGAACTCCTGGCTTCAAGTGATCCACCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCGTGCTCGGCCCCATCTCT
TATTGTCCGTGCTGCAGGGGCGGGCGCGAAGAGCGCGCCGGTGGGGCGAGCGCGGGGCTCAGTAGGCGTCGGGCTGGGCGGGCTCGAAGGGCTCGGGCGCCCCGGCCAGCTGCACCAGCCGCAGCAGCAAGGCCCCGGCCGGCCCGTCCAGCTGCGTGGCGTTGCTCCGGTCGCTGGCGCGGGCGCGGCGGTGAAAGCCCTCGCGGCACTCGGGCTCGGTCACGCAGCTCTCTGCCGGGAGGACGTGTGAGCACGGGCGCCCTGGGGCGGGCGCAGCTCGGGGTGCGGGGGGCCCACACCCTCCCTGCCGGGCCCGACGCAGCCCCCACCCCGCCGCAGGCCCGCGTCCCCCCCACCCAAGCGGTCTGCGCCCCCCCCAGCCCCAGGCCCGCCCCCGCCGCGCACCGTCGTTGCAGCAAACGCCGAAGGCGGCGCAGCGGCCCCCGCTCCCGCACGCCTTCTGGCCGGACTGGCAGGGCGACGGCAGGTAGTTCTCCTCCTGGCAGCGCAGCGCCTCAGCCGTGCCCACGAAGCAGCCCAGCTCGTCCGCGCAGCAGATGCTGGGCCCGAAGCAGCGGCCTTTGCCCCCGGGGCCGCAGGGGAGGCACTGCGGGGACGGGCGGGGTGAGCGGGAGGAGGGGAGCCGGGAGTCGAGGGGTTGGAGGGGAACGCAGCGAGGCGGGGATGCTGGGGTCCAGGGCTCGGAGTGCGGGCGGGACACCGGGGCTGCGGCTGCAGGCACGCTCGGGCGCCACTGGGCCTCGACCGCGGTCACGGGCGGGGCGTCCAGATCTGCTCGGCACCTTGGTTTCTTGGATGACCTCTCGGTGACAGCCCTCAGCGTCCTCACCCTCAGCTAGGGACGGGTCTCCCGTGGACTACAGCGTGGGGAACCCTTCCTCGAGCCTCGGGGTCATCGCTGGTGGGCGCCACTGTTGCAGCTGCCCCACCCTCCACCACTCCAGACCCTTCCTCCTTCCTCCTCGCCCTGCTGCGGCTTGAGCCCGGGCCCACCCCCTTCCCCACTACACCATGCGGAGAGGCCCTACCCATCCAGAACCCCGGCCCTTCCCATTTCCTGTCTCCTCTCTTGCCTTGCCCCTGGCCCCCGCCAAGCTTGTCGGCCTCAGCTGGAGCCCTGACCCCTGCTCAGCCACCTATGACCTATCAGGTGGGTGGCAGGGGCCTGAGACCTAGAGGCGAGCACGGACACCCAGGTGCCTCAGGACCCTAAAGGAGCCTAGCAGGAGGAAGAGAGGCTGCGGGGGTTGCCGAGCGGCCACTCTCATCTGCTCAACAGCCGGTTCTCTGGCGCAATGGATAGCGCATTAGACTTTTAGCTGAGCCTGGTGTGGTCTAATTTGCTCAAGGGCTCATCATTGAGCCTGGACAGAATTGCATGCACATCGTGATTGGATTTCCTTCAGCTCTGCTGGAAATGGAGGAAACGTCCAGCACTATAGAATTAGGCCAGGTTCCCAGCAGAACTTCCCCACAGGATGCCCCACTCAAGCGCGCTCAGACCAGTGGCCATCTTCTGTGTGGGGGCCTGGGCGCCTGTGGCTGGGAGGCTGGGGCTGGATGAGGAAAGCCTCCAATGCTAGGTAGGATGGAGCCTCTGCTGCCCCAGCCAGTCCAGATGCAAGAACGCCATGGGCACAGGGGAGGCCATGATGCCCCGTTCTCCCTATCCAGCCCCAAGCCCAGTCACCGGGGAAGCATCCCTCATTTCCCTGCATCCCTGTCTGGATGGCGACAGTGACCAGGAGCGCCTTCAGCCTCTCCCAGCCTCCTCCAAAGCCTGGTCCCCTCTGGCCCACCCCATTGGCTCCTCTGCCCAGCCATGCCATGCCTCCCTCTTCCTCCCCCGAACTTCCCCTAAAGGCTACCACCACCCATGACTTCCCTCTTTCCTAGCCCCTGACCCAGGGTGTCAGCACTGCCCGCTATGGCAGCCCTGAGATGGCCCACAGTGGGAAGTACCTGTCTCAGCTCCAGGTCGGACATGGCCCTCTTGCCGCCCCTCGGGCAGTTCTGGAAGTAGCACGTGGAGGAGAAGGCCAGTAGGCCGAGGAAGCAGGCGGGCAGCATGGTGTCAGGCATCCTGGTGCACACAGGTGGACCCCGTATGCAGCACTGCTTGGTGGCTCTGTGCTGCTGCCTCTGCTGGCTGCCTATTTATGTCCGCAGGTGTTCCCGTGGAGGCGAGACGCGGCCGCCACCCCCTCCCCAGTGGCTCCCCAGGAGCCCACGGCCGCCAGGTCCCCAGCCGTCAGCAGTGATTCAGGCATCTGGGGACACACGTGGGCCTGTCTGTGCAGGGGATCATAGGGGAGGGGTACGGGCCGCCAGGCTGTCATGGGCCGCGGAATGACAGCAATTGCCTCTACTGTGACTGCAGCGCTCTGGATTCAGGGAGAGGGACAGACTGGGGGGTCACCTGGAGACCATCTCTGAGCTTTCTGATTACCCAGAAATGGCGTAGGGTCCAAGAAGAGGGTAAGAGGAACCGAGGGGCTGCGTGTTAGGGGCAGGGACAGGCCCTGGCCTAGGAGCTGTGGGGCAGGGGACAGCCAGGTGTGTGGGGAGGGTTAGCCCTGTGACAACAAGATAAGGGACCAAGAACAGCACAAGCCCAGAGTGGTGAGGACAGGGGCTGCACCAGAGATGAGAATCCCTGCCTCGTGGACAAGGCAGCCGCCGTCGTGGAGTCAAGGGACACAGAATGAGAGGGGCTTGTTCTCACAGGGTAGGGGGGTGGCAGGTTGCTGGGGAAAGTGCAAGACATGACACCCCCGCACCCCCATAGAGCAGGGCATGGGGACTCAGGCCCTGAAACTGGGGGCCTTGGGGACACATTGGCACATGACCCGTCACCCCCTCCCAGGTAGAAACATGAGTGTGGAGAGCTACTATGGGGAGAAAGAACTCCATGCCAAGTAAGGTTCAAAGGCGGGGGGAGCCCCAGGAAACCTGACAACAGTTTGTCCCAATTCCTACCCCCACCAGGACCTTAGTATGTGGCAACCAGGGCAGGTACATCTCAGGCCTGGGGTGGGAGAGCCGGGGGTGGGGGGTGTCTGGGCCTGGGGGAAGGTGCAGGAGGAGCCATACCTAAATGGACCCAGCCTGAGAAAGCCACTTTTGGTCCCTAATCCCAAGGTGGCAGGTCTAAAGAGGACATGGCCTCTCTCCCTGGGCCACCAGAATGCCCCGCTGGTCTGGGGTTCAGGCCCGGTACCCCCTGCCTCTCAAGCTGTGCGCAGTCCCCAGCTCTCGCAGTTCCCACAGGCTCTTGGCCTCCTCTCCAGGGTGCATAGAGGTGCTGCGAGGAAATTCCAGGGGACACAGCAGCCCCATCTCCAGCAAGGGCAGTGAGGGGGCCAGCAACCCAGGAGGGGCCTCCTATACTCAGGCCATGGCGTCGGTCTTTTCAGGAATGACCCCTCAGGGACTGCAAGGACCCTTTGAGAGGCAACACTGGGCAGTTGTTATTGCAGGAACACTGGCTCCCAATAGCTTGGCTCAGGGTCTGGCCTCTGTTGCTCGACACTTCATGGCTTGGGCAGCTCACTGGACTTCTCTGTGCCTTACTTTCTGCCAGTGTGAAGTAAGGAAAATCATGGTACCCACCTCCTAGGGTCAATGTGAGGACAGAAATAAATAATTTATTATACAAAAGCTTTAGAGCCAGGCATGGCAGCTTATGCCTGTAATCCCAGCTACTTGGGAGACCCAGACAGGAGGTTGAGACCAGTCTCGGCAACATAGCAAGACCCCATCTCTATTTTTTTTTTTTTTTTTTGAGACAGAGTCTCACTCTGTCAACCCAGGCTGGAGTGCAGTGGCACAATCTCGGCTCAGTACAACCTCCACCTCCCGGGTTCAAGCGATCCTCCTGCCTTAGCCTCCCAAGTAGCTGGGATTACAGGCACGCGTCACCACGCCAGGTTAATTTTTGTATTTTTAGTAGAAATGGGGTTTCACCATATTGGCCAGTCTGGTCTTGAACTCCTGGCTTCAAGTGATCCACCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCGTGCTCGGCCCCATCTCT
Task1_train_27626
This mutation occurs in AVP (arginine vasopressin) on Chromosome 20. Does this change lead to a known medical condition, or is it benign?
Pathogenic; Diabetes insipidus, neurohypophyseal, autosomal recessive
CGCCGGTGGGGCGAGCGCGGGGCTCAGTAGGCGTCGGGCTGGGCGGGCTCGAAGGGCTCGGGCGCCCCGGCCAGCTGCACCAGCCGCAGCAGCAAGGCCCCGGCCGGCCCGTCCAGCTGCGTGGCGTTGCTCCGGTCGCTGGCGCGGGCGCGGCGGTGAAAGCCCTCGCGGCACTCGGGCTCGGTCACGCAGCTCTCTGCCGGGAGGACGTGTGAGCACGGGCGCCCTGGGGCGGGCGCAGCTCGGGGTGCGGGGGGCCCACACCCTCCCTGCCGGGCCCGACGCAGCCCCCACCCCGCCGCAGGCCCGCGTCCCCCCCACCCAAGCGGTCTGCGCCCCCCCCAGCCCCAGGCCCGCCCCCGCCGCGCACCGTCGTTGCAGCAAACGCCGAAGGCGGCGCAGCGGCCCCCGCTCCCGCACGCCTTCTGGCCGGACTGGCAGGGCGACGGCAGGTAGTTCTCCTCCTGGCAGCGCAGCGCCTCAGCCGTGCCCACGAAGCAGCCCAGCTCGTCCGCGCAGCAGATGCTGGGCCCGAAGCAGCGGCCTTTGCCCCCGGGGCCGCAGGGGAGGCACTGCGGGGACGGGCGGGGTGAGCGGGAGGAGGGGAGCCGGGAGTCGAGGGGTTGGAGGGGAACGCAGCGAGGCGGGGATGCTGGGGTCCAGGGCTCGGAGTGCGGGCGGGACACCGGGGCTGCGGCTGCAGGCACGCTCGGGCGCCACTGGGCCTCGACCGCGGTCACGGGCGGGGCGTCCAGATCTGCTCGGCACCTTGGTTTCTTGGATGACCTCTCGGTGACAGCCCTCAGCGTCCTCACCCTCAGCTAGGGACGGGTCTCCCGTGGACTACAGCGTGGGGAACCCTTCCTCGAGCCTCGGGGTCATCGCTGGTGGGCGCCACTGTTGCAGCTGCCCCACCCTCCACCACTCCAGACCCTTCCTCCTTCCTCCTCGCCCTGCTGCGGCTTGAGCCCGGGCCCACCCCCTTCCCCACTACACCATGCGGAGAGGCCCTACCCATCCAGAACCCCGGCCCTTCCCATTTCCTGTCTCCTCTCTTGCCTTGCCCCTGGCCCCCGCCAAGCTTGTCGGCCTCAGCTGGAGCCCTGACCCCTGCTCAGCCACCTATGACCTATCAGGTGGGTGGCAGGGGCCTGAGACCTAGAGGCGAGCACGGACACCCAGGTGCCTCAGGACCCTAAAGGAGCCTAGCAGGAGGAAGAGAGGCTGCGGGGGTTGCCGAGCGGCCACTCTCATCTGCTCAACAGCCGGTTCTCTGGCGCAATGGATAGCGCATTAGACTTTTAGCTGAGCCTGGTGTGGTCTAATTTGCTCAAGGGCTCATCATTGAGCCTGGACAGAATTGCATGCACATCGTGATTGGATTTCCTTCAGCTCTGCTGGAAATGGAGGAAACGTCCAGCACTATAGAATTAGGCCAGGTTCCCAGCAGAACTTCCCCACAGGATGCCCCACTCAAGCGCGCTCAGACCAGTGGCCATCTTCTGTGTGGGGGCCTGGGCGCCTGTGGCTGGGAGGCTGGGGCTGGATGAGGAAAGCCTCCAATGCTAGGTAGGATGGAGCCTCTGCTGCCCCAGCCAGTCCAGATGCAAGAACGCCATGGGCACAGGGGAGGCCATGATGCCCCGTTCTCCCTATCCAGCCCCAAGCCCAGTCACCGGGGAAGCATCCCTCATTTCCCTGCATCCCTGTCTGGATGGCGACAGTGACCAGGAGCGCCTTCAGCCTCTCCCAGCCTCCTCCAAAGCCTGGTCCCCTCTGGCCCACCCCATTGGCTCCTCTGCCCAGCCATGCCATGCCTCCCTCTTCCTCCCCCGAACTTCCCCTAAAGGCTACCACCACCCATGACTTCCCTCTTTCCTAGCCCCTGACCCAGGGTGTCAGCACTGCCCGCTATGGCAGCCCTGAGATGGCCCACAGTGGGAAGTACCTGTCTCAGCTCCAGGTCGGACATGGCCCTCTTGCCGCCCCTCGGGCAGTTCTGGAAGTAGCACGCGGAGGAGAAGGCCAGTAGGCCGAGGAAGCAGGCGGGCAGCATGGTGTCAGGCATCCTGGTGCACACAGGTGGACCCCGTATGCAGCACTGCTTGGTGGCTCTGTGCTGCTGCCTCTGCTGGCTGCCTATTTATGTCCGCAGGTGTTCCCGTGGAGGCGAGACGCGGCCGCCACCCCCTCCCCAGTGGCTCCCCAGGAGCCCACGGCCGCCAGGTCCCCAGCCGTCAGCAGTGATTCAGGCATCTGGGGACACACGTGGGCCTGTCTGTGCAGGGGATCATAGGGGAGGGGTACGGGCCGCCAGGCTGTCATGGGCCGCGGAATGACAGCAATTGCCTCTACTGTGACTGCAGCGCTCTGGATTCAGGGAGAGGGACAGACTGGGGGGTCACCTGGAGACCATCTCTGAGCTTTCTGATTACCCAGAAATGGCGTAGGGTCCAAGAAGAGGGTAAGAGGAACCGAGGGGCTGCGTGTTAGGGGCAGGGACAGGCCCTGGCCTAGGAGCTGTGGGGCAGGGGACAGCCAGGTGTGTGGGGAGGGTTAGCCCTGTGACAACAAGATAAGGGACCAAGAACAGCACAAGCCCAGAGTGGTGAGGACAGGGGCTGCACCAGAGATGAGAATCCCTGCCTCGTGGACAAGGCAGCCGCCGTCGTGGAGTCAAGGGACACAGAATGAGAGGGGCTTGTTCTCACAGGGTAGGGGGGTGGCAGGTTGCTGGGGAAAGTGCAAGACATGACACCCCCGCACCCCCATAGAGCAGGGCATGGGGACTCAGGCCCTGAAACTGGGGGCCTTGGGGACACATTGGCACATGACCCGTCACCCCCTCCCAGGTAGAAACATGAGTGTGGAGAGCTACTATGGGGAGAAAGAACTCCATGCCAAGTAAGGTTCAAAGGCGGGGGGAGCCCCAGGAAACCTGACAACAGTTTGTCCCAATTCCTACCCCCACCAGGACCTTAGTATGTGGCAACCAGGGCAGGTACATCTCAGGCCTGGGGTGGGAGAGCCGGGGGTGGGGGGTGTCTGGGCCTGGGGGAAGGTGCAGGAGGAGCCATACCTAAATGGACCCAGCCTGAGAAAGCCACTTTTGGTCCCTAATCCCAAGGTGGCAGGTCTAAAGAGGACATGGCCTCTCTCCCTGGGCCACCAGAATGCCCCGCTGGTCTGGGGTTCAGGCCCGGTACCCCCTGCCTCTCAAGCTGTGCGCAGTCCCCAGCTCTCGCAGTTCCCACAGGCTCTTGGCCTCCTCTCCAGGGTGCATAGAGGTGCTGCGAGGAAATTCCAGGGGACACAGCAGCCCCATCTCCAGCAAGGGCAGTGAGGGGGCCAGCAACCCAGGAGGGGCCTCCTATACTCAGGCCATGGCGTCGGTCTTTTCAGGAATGACCCCTCAGGGACTGCAAGGACCCTTTGAGAGGCAACACTGGGCAGTTGTTATTGCAGGAACACTGGCTCCCAATAGCTTGGCTCAGGGTCTGGCCTCTGTTGCTCGACACTTCATGGCTTGGGCAGCTCACTGGACTTCTCTGTGCCTTACTTTCTGCCAGTGTGAAGTAAGGAAAATCATGGTACCCACCTCCTAGGGTCAATGTGAGGACAGAAATAAATAATTTATTATACAAAAGCTTTAGAGCCAGGCATGGCAGCTTATGCCTGTAATCCCAGCTACTTGGGAGACCCAGACAGGAGGTTGAGACCAGTCTCGGCAACATAGCAAGACCCCATCTCTATTTTTTTTTTTTTTTTTTGAGACAGAGTCTCACTCTGTCAACCCAGGCTGGAGTGCAGTGGCACAATCTCGGCTCAGTACAACCTCCACCTCCCGGGTTCAAGCGATCCTCCTGCCTTAGCCTCCCAAGTAGCTGGGATTACAGGCACGCGTCACCACGCCAGGTTAATTTTTGTATTTTTAGTAGAAATGGGGTTTCACCATATTGGCCAGTCTGGTCTTGAACTCCTGGCTTCAAGTGATCCACCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCGTGCTCGGCCCCATCTCTAATTTTAAATAAATAAATAAATACTTTTTTTTTGA
CGCCGGTGGGGCGAGCGCGGGGCTCAGTAGGCGTCGGGCTGGGCGGGCTCGAAGGGCTCGGGCGCCCCGGCCAGCTGCACCAGCCGCAGCAGCAAGGCCCCGGCCGGCCCGTCCAGCTGCGTGGCGTTGCTCCGGTCGCTGGCGCGGGCGCGGCGGTGAAAGCCCTCGCGGCACTCGGGCTCGGTCACGCAGCTCTCTGCCGGGAGGACGTGTGAGCACGGGCGCCCTGGGGCGGGCGCAGCTCGGGGTGCGGGGGGCCCACACCCTCCCTGCCGGGCCCGACGCAGCCCCCACCCCGCCGCAGGCCCGCGTCCCCCCCACCCAAGCGGTCTGCGCCCCCCCCAGCCCCAGGCCCGCCCCCGCCGCGCACCGTCGTTGCAGCAAACGCCGAAGGCGGCGCAGCGGCCCCCGCTCCCGCACGCCTTCTGGCCGGACTGGCAGGGCGACGGCAGGTAGTTCTCCTCCTGGCAGCGCAGCGCCTCAGCCGTGCCCACGAAGCAGCCCAGCTCGTCCGCGCAGCAGATGCTGGGCCCGAAGCAGCGGCCTTTGCCCCCGGGGCCGCAGGGGAGGCACTGCGGGGACGGGCGGGGTGAGCGGGAGGAGGGGAGCCGGGAGTCGAGGGGTTGGAGGGGAACGCAGCGAGGCGGGGATGCTGGGGTCCAGGGCTCGGAGTGCGGGCGGGACACCGGGGCTGCGGCTGCAGGCACGCTCGGGCGCCACTGGGCCTCGACCGCGGTCACGGGCGGGGCGTCCAGATCTGCTCGGCACCTTGGTTTCTTGGATGACCTCTCGGTGACAGCCCTCAGCGTCCTCACCCTCAGCTAGGGACGGGTCTCCCGTGGACTACAGCGTGGGGAACCCTTCCTCGAGCCTCGGGGTCATCGCTGGTGGGCGCCACTGTTGCAGCTGCCCCACCCTCCACCACTCCAGACCCTTCCTCCTTCCTCCTCGCCCTGCTGCGGCTTGAGCCCGGGCCCACCCCCTTCCCCACTACACCATGCGGAGAGGCCCTACCCATCCAGAACCCCGGCCCTTCCCATTTCCTGTCTCCTCTCTTGCCTTGCCCCTGGCCCCCGCCAAGCTTGTCGGCCTCAGCTGGAGCCCTGACCCCTGCTCAGCCACCTATGACCTATCAGGTGGGTGGCAGGGGCCTGAGACCTAGAGGCGAGCACGGACACCCAGGTGCCTCAGGACCCTAAAGGAGCCTAGCAGGAGGAAGAGAGGCTGCGGGGGTTGCCGAGCGGCCACTCTCATCTGCTCAACAGCCGGTTCTCTGGCGCAATGGATAGCGCATTAGACTTTTAGCTGAGCCTGGTGTGGTCTAATTTGCTCAAGGGCTCATCATTGAGCCTGGACAGAATTGCATGCACATCGTGATTGGATTTCCTTCAGCTCTGCTGGAAATGGAGGAAACGTCCAGCACTATAGAATTAGGCCAGGTTCCCAGCAGAACTTCCCCACAGGATGCCCCACTCAAGCGCGCTCAGACCAGTGGCCATCTTCTGTGTGGGGGCCTGGGCGCCTGTGGCTGGGAGGCTGGGGCTGGATGAGGAAAGCCTCCAATGCTAGGTAGGATGGAGCCTCTGCTGCCCCAGCCAGTCCAGATGCAAGAACGCCATGGGCACAGGGGAGGCCATGATGCCCCGTTCTCCCTATCCAGCCCCAAGCCCAGTCACCGGGGAAGCATCCCTCATTTCCCTGCATCCCTGTCTGGATGGCGACAGTGACCAGGAGCGCCTTCAGCCTCTCCCAGCCTCCTCCAAAGCCTGGTCCCCTCTGGCCCACCCCATTGGCTCCTCTGCCCAGCCATGCCATGCCTCCCTCTTCCTCCCCCGAACTTCCCCTAAAGGCTACCACCACCCATGACTTCCCTCTTTCCTAGCCCCTGACCCAGGGTGTCAGCACTGCCCGCTATGGCAGCCCTGAGATGGCCCACAGTGGGAAGTACCTGTCTCAGCTCCAGGTCGGACATGGCCCTCTTGCCGCCCCTCGGGCAGTTCTGGAAGTAGCACGCGGAGGAGAAGGCCAGTAGGCCGAGGAAGCAGGCGAGCAGCATGGTGTCAGGCATCCTGGTGCACACAGGTGGACCCCGTATGCAGCACTGCTTGGTGGCTCTGTGCTGCTGCCTCTGCTGGCTGCCTATTTATGTCCGCAGGTGTTCCCGTGGAGGCGAGACGCGGCCGCCACCCCCTCCCCAGTGGCTCCCCAGGAGCCCACGGCCGCCAGGTCCCCAGCCGTCAGCAGTGATTCAGGCATCTGGGGACACACGTGGGCCTGTCTGTGCAGGGGATCATAGGGGAGGGGTACGGGCCGCCAGGCTGTCATGGGCCGCGGAATGACAGCAATTGCCTCTACTGTGACTGCAGCGCTCTGGATTCAGGGAGAGGGACAGACTGGGGGGTCACCTGGAGACCATCTCTGAGCTTTCTGATTACCCAGAAATGGCGTAGGGTCCAAGAAGAGGGTAAGAGGAACCGAGGGGCTGCGTGTTAGGGGCAGGGACAGGCCCTGGCCTAGGAGCTGTGGGGCAGGGGACAGCCAGGTGTGTGGGGAGGGTTAGCCCTGTGACAACAAGATAAGGGACCAAGAACAGCACAAGCCCAGAGTGGTGAGGACAGGGGCTGCACCAGAGATGAGAATCCCTGCCTCGTGGACAAGGCAGCCGCCGTCGTGGAGTCAAGGGACACAGAATGAGAGGGGCTTGTTCTCACAGGGTAGGGGGGTGGCAGGTTGCTGGGGAAAGTGCAAGACATGACACCCCCGCACCCCCATAGAGCAGGGCATGGGGACTCAGGCCCTGAAACTGGGGGCCTTGGGGACACATTGGCACATGACCCGTCACCCCCTCCCAGGTAGAAACATGAGTGTGGAGAGCTACTATGGGGAGAAAGAACTCCATGCCAAGTAAGGTTCAAAGGCGGGGGGAGCCCCAGGAAACCTGACAACAGTTTGTCCCAATTCCTACCCCCACCAGGACCTTAGTATGTGGCAACCAGGGCAGGTACATCTCAGGCCTGGGGTGGGAGAGCCGGGGGTGGGGGGTGTCTGGGCCTGGGGGAAGGTGCAGGAGGAGCCATACCTAAATGGACCCAGCCTGAGAAAGCCACTTTTGGTCCCTAATCCCAAGGTGGCAGGTCTAAAGAGGACATGGCCTCTCTCCCTGGGCCACCAGAATGCCCCGCTGGTCTGGGGTTCAGGCCCGGTACCCCCTGCCTCTCAAGCTGTGCGCAGTCCCCAGCTCTCGCAGTTCCCACAGGCTCTTGGCCTCCTCTCCAGGGTGCATAGAGGTGCTGCGAGGAAATTCCAGGGGACACAGCAGCCCCATCTCCAGCAAGGGCAGTGAGGGGGCCAGCAACCCAGGAGGGGCCTCCTATACTCAGGCCATGGCGTCGGTCTTTTCAGGAATGACCCCTCAGGGACTGCAAGGACCCTTTGAGAGGCAACACTGGGCAGTTGTTATTGCAGGAACACTGGCTCCCAATAGCTTGGCTCAGGGTCTGGCCTCTGTTGCTCGACACTTCATGGCTTGGGCAGCTCACTGGACTTCTCTGTGCCTTACTTTCTGCCAGTGTGAAGTAAGGAAAATCATGGTACCCACCTCCTAGGGTCAATGTGAGGACAGAAATAAATAATTTATTATACAAAAGCTTTAGAGCCAGGCATGGCAGCTTATGCCTGTAATCCCAGCTACTTGGGAGACCCAGACAGGAGGTTGAGACCAGTCTCGGCAACATAGCAAGACCCCATCTCTATTTTTTTTTTTTTTTTTTGAGACAGAGTCTCACTCTGTCAACCCAGGCTGGAGTGCAGTGGCACAATCTCGGCTCAGTACAACCTCCACCTCCCGGGTTCAAGCGATCCTCCTGCCTTAGCCTCCCAAGTAGCTGGGATTACAGGCACGCGTCACCACGCCAGGTTAATTTTTGTATTTTTAGTAGAAATGGGGTTTCACCATATTGGCCAGTCTGGTCTTGAACTCCTGGCTTCAAGTGATCCACCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCGTGCTCGGCCCCATCTCTAATTTTAAATAAATAAATAAATACTTTTTTTTTGA
Task1_train_27627
Gene ITPA (inosine triphosphatase), found on Chromosome 20, is impacted by this variant. What is the biological outcome — benign or pathogenic?
Pathogenic; Inosine triphosphatase deficiency
GGCCAGGAGTTTGAGACCAGCCTGGGTAACATAGCCAGACCCTGTCTCAAAAATAAATAAATAGCCGGACATGGTGGTGCACACCTGTAGTCCTAGCTACTTGGGAGGCTGAGGTGGGAGGATCACCTGAGCCTCGGAGTTTGACGGGACAGTGAGCTATGATCGCACTCCTGCACTCCAGCCATGGAGTGACGGAGTGAGACCCAGTCTCAAAAAAAAAAAAAAAAAAACAAACCTTAATTATTTGCCCAAACTTATTCCTTCCGTGAGATGTATTCAACACCCCCTACTGCCTATCACTGCTCACGACAGCCTCCACCTCCCAGGCTCAGGTGATCTCCCACCCTGGAGAGTAACTGGGACTACAGGCGTGCACCACCACACCCGGCTAATTTTTGTATTTTTGGTAGAGACAGGGTTTCACTATGTTGCCCAGGCTGGTCTTGAACTCCCGACCTTAAGTGATCCGCTGGCCTCATTCTCCCAAAGTGCAACCTCCATCTCCTGGGTTCAAGCAATTCTCCTGCCTCAGCCTGCCGAGTAGCTGGGATTATAGGCGTGAGCAAAAAACATTTGTTGCGTGGTTGAGGTTCAGTAACTGGCCTTAGTCACGCAGCTCCTCACGGCAGAAGCAGAATTTGCCTTTGGGTCTAAATTACTTGGCATCTATGTGACTAATCCCAATCATGTACCACCTCCGTTGTATTTTTTAAAGAGTAAAAAAAAATGTTTTTGAGACAGGGTCTTGCTTTGTCACCCAGGCTGGAGTGTAGTGGCATGACTACCGTTCATAGCAGCCTTGATCTCTCAGGCTCAAGTCATCCTCCCACCTCAGCCTTCCGAGTAGCTAGGACCTCAGGTGTGAGCTACCACATCTGGCTAATTAAAAAAAAAAAAAAAATTGGTAGAGATAGAGTCTGACTGTGTTGCCCAGACTGGTCTCGAACTCCTGGGTTTAAACCATCCTCCCTCCTCGGCCTCCCCAAGCGCTGAGATTACAGGCGTGAGCTACCACACCTGGTCCCTTGTATTTTTTTCAGTTAGAATCTTTTGGGTTTTTTTGTTTGTTTTTTGGAGTGTTTGTTTGTTTGTTTGGAGTGTTTGTCTCTGTCTGTCGCCCGGACTGGATCACAGCTCACTGCAGCCTCGACCTCTTGGGCTCAAGCAGTCTTCCCACCAGGTAGCTGGGACTACAGGCTTACACCACCAGGCTAGGCTAATTTTTGTATTTTTTGTAGAGATGGGGTTTCGCCTTTGCCACGTGGCTCAGGCTGGTCTCAATTTCCTGGGCTCAAGTGATCTTCCCACCTCAGCCTCCCAAAGTCCTGGGATTACAGGCATGAGCCACCGCGCCTGGCCAGATTTTCTTTTTCTTTTCTTTCTTTTTTTTTTTTACTTTGATAACAACATGACATTTCATGTCACTGGATTACAATTTGTTCTTTTTCTAACATTTTCACTGTGGAATTTCCCTACTACAGCCAGTACGTATTGTACTCACTAATGTGTTCATGAAGTGGGGAGTTGGGTACCTGCTTCCTGTTGCGGTGTTTCATCTTATTGTTAAAGTCTTCCTTGTATTTTCAGGAACGCTGTCATAGTAGCCGGCATCTGGCTTGTCCACGGAGTTCAGGGTACTTAGCTTCCTATTAGGAGAAAACGTTTTCTGTCTATCTTTCTTTCTGTCTATCTTTCAAAGTAGCCTCATTGTTCTTCAGTGATGTCCCAATTTGTCCCGGGTGTGGCTGGCGAGGGCGCGTGGCCCCGGAGGTGCTGGTGGTCCTGTGGGTCCATGCCTCCTCCCTGTGTGTGAGGGAAGAGCTGCCCCGCTCTGCTTTTTATTGTATTCAGCAAACATTTGCAGGTGCTGTAGGGGCCTTGCAACTACATTTTGCGTAAGTTGGGTCAAATCAAATTCACAGACTCACCAAACTCATACTGGCCACTGCCCTCCTCGTGCTTGTCCTCTGGACCCAGTTACACACCTGTCCCCCCTTTCCTGTGGCAGGGCCGGATCGTGGCACCCAGAGGCTGCCAGGACTTTGGCTGGGACCCCTGCTTTCAGCCTGATGGATATGAGCAGACGTAAGGAGCCCTGCTTTTCTTCCCTGGGGTGTGGGGTTGGTACAGCCATGGTTTGGGTTGGGCCAGTGCCCCGCCCAAGTGCAGGCATGCGGATATGGGCAGGGGAGGCTCCCAGGGTGCTGTTCCAGCCACAGGCAGCTCTGCTGGGGTGGACACTAGGAATCTGGGTGGCCCAGTCCATGGTTGGGGAGGCAGCCAGATGGCACTGAGAGTCCTGGGCTCTAAGGCTCCAGGTCACCCCACATCAGCTGTGTAGCCAGTGGTTTCGCCTTTCTGGCCTTGGCTTGTAAGCTGTACATCTGACTTTTTTTTTTTTTTTTTTGAGATGGAGTTTCACTCTTGTTGCCCAGGCTGGAGTGCAACGGCGTGATCTCAACTCACTGCACCCTCTGCCTCCCAGGTTCAAGCAATTCTCCTGTCTCAGCTGAGATTACAGGCACGCACCACCGTGCTCAGCTAATTTTTGTTATTTTTGTTAGAGACGGGGTTTCACCATGTTGGCCAGGCTGGTCTCAAACTGACCTCAGGTGATCCGCCCACCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCTGGCCACATCTGACAGTTTTATGGCATCATTTTCTGACCCCCATCTAGGTTGGGAAAATGTCCAGGCTTTTGCAGCCTCTGGTGGGCACTATTTTATGCCCTCCAAGTACCAGTTGTTCTCTGTAGTTCGCACAAATCGCCCCTTGTTCACACAAGGCACGGGCCATTGTTGGAATCAGGCTTTCCAAGCTGGAGGGGCCCTTAGGGAGCGCAGTGTGAGGCCCCACAATAGCCCCAGCAGGGGTGAGGACATTGTGGAACCAGCCACTAGCCATATGGGGCTGTGGAGCACTTGCGTGTGGTGAGACCCAGAAACGGAATATTTCTGTTCAGCGTTAATTCATTTAAATAGCCACACCTGGCTAGTGGCTACTGGCCGCCGTCTTGCACAGAGCAGTCTGCAGGCCACGGGCGGGGTATGGGATTCTCACCTCACTGCGGTGCTGGCATGGAGGTCGGGCCCCTGGCCAGCTGTTCAAGTGCTCCCCCGCCCTCAGCGCATGAGAGGAGACTGCTGTGTTTGCTCTGTCAGGCCCCACTGCTTCCTGTCAACAGATGACAAAGCTGATCAAACATGCAGCTCATCCCCCCCTGTCCCCAGCTTCCCTTAATGACTTTTGGGCACACTAGAGCAAGTTTAATACCCCTCCATGCTCATTCATGGGGGTTTCTGCCTACAGGGGAATTGAAAACTTTATCCGATTTTTAAAAATTCACTGGCTGCCAGGAGCTGCTGGGCCCCACTCCCCTTTCCTTGGGGTCTGTGAGCTTTGGTCTCCAGGGATGAGATGAGGTAGGGTTGGGAGGGGGTGCACTTCCTTCCTGAATCTGGGCTCCCTGAGCTGCTACTGTCACCCCTCAGGTACGCAGAGATGCCTAAGGCGGAGAAGAACGCTGTCTCCCATCGCTTCCGGGCCCTGCTGGAGCTGCAGGAGTACTTTGGCAGTTTGGCAGCTTGACTTCTGCAGCTGGAGGAGGCCCCTCAGGCCGGGGATCTGGGGAGGGCTAGCCCAAAACCTCCCGCATCGGGCAGGCACCCCCTGAAGTACTTCCTTCAGGGTTTCCCCTTTGTGAGGGTGTCGAGTAGCCTCACCGGCCTGTCTGGAGGAGCAGCTGGCTCTGCTCTGAGAAACTCTGGCAAGTGGACGCCATTCTCTTGCCCTTAGGATTCACTGCTCTCTCCTACAGCCGCCAGGCCTGGGGTCCTGAAAGGACCTTGGGTGGTAAAGCTGTACTTGGTGGGAGTGAGGGCGTGGGGAGGAACCATGCAAATCGCCTTCCATGGTTTTTAAATGCAGTAAATAACATTTCTGGATGAGACTTGTTTCCAAAATAAACCAGCTATATCTGTTTTGAACCCTGCCCCAGGCAGGTGTCTGTCTCAGTCTCCTTTGGCAGGTGCAGGAAGTTTTTTGGGTGGGGGTG
GGCCAGGAGTTTGAGACCAGCCTGGGTAACATAGCCAGACCCTGTCTCAAAAATAAATAAATAGCCGGACATGGTGGTGCACACCTGTAGTCCTAGCTACTTGGGAGGCTGAGGTGGGAGGATCACCTGAGCCTCGGAGTTTGACGGGACAGTGAGCTATGATCGCACTCCTGCACTCCAGCCATGGAGTGACGGAGTGAGACCCAGTCTCAAAAAAAAAAAAAAAAAAACAAACCTTAATTATTTGCCCAAACTTATTCCTTCCGTGAGATGTATTCAACACCCCCTACTGCCTATCACTGCTCACGACAGCCTCCACCTCCCAGGCTCAGGTGATCTCCCACCCTGGAGAGTAACTGGGACTACAGGCGTGCACCACCACACCCGGCTAATTTTTGTATTTTTGGTAGAGACAGGGTTTCACTATGTTGCCCAGGCTGGTCTTGAACTCCCGACCTTAAGTGATCCGCTGGCCTCATTCTCCCAAAGTGCAACCTCCATCTCCTGGGTTCAAGCAATTCTCCTGCCTCAGCCTGCCGAGTAGCTGGGATTATAGGCGTGAGCAAAAAACATTTGTTGCGTGGTTGAGGTTCAGTAACTGGCCTTAGTCACGCAGCTCCTCACGGCAGAAGCAGAATTTGCCTTTGGGTCTAAATTACTTGGCATCTATGTGACTAATCCCAATCATGTACCACCTCCGTTGTATTTTTTAAAGAGTAAAAAAAAATGTTTTTGAGACAGGGTCTTGCTTTGTCACCCAGGCTGGAGTGTAGTGGCATGACTACCGTTCATAGCAGCCTTGATCTCTCAGGCTCAAGTCATCCTCCCACCTCAGCCTTCCGAGTAGCTAGGACCTCAGGTGTGAGCTACCACATCTGGCTAATTAAAAAAAAAAAAAAAATTGGTAGAGATAGAGTCTGACTGTGTTGCCCAGACTGGTCTCGAACTCCTGGGTTTAAACCATCCTCCCTCCTCGGCCTCCCCAAGCGCTGAGATTACAGGCGTGAGCTACCACACCTGGTCCCTTGTATTTTTTTCAGTTAGAATCTTTTGGGTTTTTTTGTTTGTTTTTTGGAGTGTTTGTTTGTTTGTTTGGAGTGTTTGTCTCTGTCTGTCGCCCGGACTGGATCACAGCTCACTGCAGCCTCGACCTCTTGGGCTCAAGCAGTCTTCCCACCAGGTAGCTGGGACTACAGGCTTACACCACCAGGCTAGGCTAATTTTTGTATTTTTTGTAGAGATGGGGTTTCGCCTTTGCCACGTGGCTCAGGCTGGTCTCAATTTCCTGGGCTCAAGTGATCTTCCCACCTCAGCCTCCCAAAGTCCTGGGATTACAGGCATGAGCCACCGCGCCTGGCCAGATTTTCTTTTTCTTTTCTTTCTTTTTTTTTTTTACTTTGATAACAACATGACATTTCATGTCACTGGATTACAATTTGTTCTTTTTCTAACATTTTCACTGTGGAATTTCCCTACTACAGCCAGTACGTATTGTACTCACTAATGTGTTCATGAAGTGGGGAGTTGGGTACCTGCTTCCTGTTGCGGTGTTTCATCTTATTGTTAAAGTCTTCCTTGTATTTTCAGGAACGCTGTCATAGTAGCCGGCATCTGGCTTGTCCACGGAGTTCAGGGTACTTAGCTTCCTATTAGGAGAAAACGTTTTCTGTCTATCTTTCTTTCTGTCTATCTTTCAAAGTAGCCTCATTGTTCTTCAGTGATGTCCCAATTTGTCCCGGGTGTGGCTGGCGAGGGCGCGTGGCCCCGGAGGTGCTGGTGGTCCTGTGGGTCCATGCCTCCTCCCTGTGTGTGAGGGAAGAGCTGCCCCGCTCTGCTTTTTATTGTATTCAGCAAACATTTGCAGGTGCTGTAGGGGCCTTGCAACTACATTTTGCGTAAGTTGGGTCAAATCAAATTCACAGACTCACCAAACTCATACTGGCCACTGCCCTCCTCGTGCTTGTCCTCTGGACCCAGTTACACACCTGTCCCCCCTTTCCTGTGGCAGGGCCGGATCGTGGCACCCAGAGGCTGCCAGGACTTTGGCTAGGACCCCTGCTTTCAGCCTGATGGATATGAGCAGACGTAAGGAGCCCTGCTTTTCTTCCCTGGGGTGTGGGGTTGGTACAGCCATGGTTTGGGTTGGGCCAGTGCCCCGCCCAAGTGCAGGCATGCGGATATGGGCAGGGGAGGCTCCCAGGGTGCTGTTCCAGCCACAGGCAGCTCTGCTGGGGTGGACACTAGGAATCTGGGTGGCCCAGTCCATGGTTGGGGAGGCAGCCAGATGGCACTGAGAGTCCTGGGCTCTAAGGCTCCAGGTCACCCCACATCAGCTGTGTAGCCAGTGGTTTCGCCTTTCTGGCCTTGGCTTGTAAGCTGTACATCTGACTTTTTTTTTTTTTTTTTTGAGATGGAGTTTCACTCTTGTTGCCCAGGCTGGAGTGCAACGGCGTGATCTCAACTCACTGCACCCTCTGCCTCCCAGGTTCAAGCAATTCTCCTGTCTCAGCTGAGATTACAGGCACGCACCACCGTGCTCAGCTAATTTTTGTTATTTTTGTTAGAGACGGGGTTTCACCATGTTGGCCAGGCTGGTCTCAAACTGACCTCAGGTGATCCGCCCACCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCTGGCCACATCTGACAGTTTTATGGCATCATTTTCTGACCCCCATCTAGGTTGGGAAAATGTCCAGGCTTTTGCAGCCTCTGGTGGGCACTATTTTATGCCCTCCAAGTACCAGTTGTTCTCTGTAGTTCGCACAAATCGCCCCTTGTTCACACAAGGCACGGGCCATTGTTGGAATCAGGCTTTCCAAGCTGGAGGGGCCCTTAGGGAGCGCAGTGTGAGGCCCCACAATAGCCCCAGCAGGGGTGAGGACATTGTGGAACCAGCCACTAGCCATATGGGGCTGTGGAGCACTTGCGTGTGGTGAGACCCAGAAACGGAATATTTCTGTTCAGCGTTAATTCATTTAAATAGCCACACCTGGCTAGTGGCTACTGGCCGCCGTCTTGCACAGAGCAGTCTGCAGGCCACGGGCGGGGTATGGGATTCTCACCTCACTGCGGTGCTGGCATGGAGGTCGGGCCCCTGGCCAGCTGTTCAAGTGCTCCCCCGCCCTCAGCGCATGAGAGGAGACTGCTGTGTTTGCTCTGTCAGGCCCCACTGCTTCCTGTCAACAGATGACAAAGCTGATCAAACATGCAGCTCATCCCCCCCTGTCCCCAGCTTCCCTTAATGACTTTTGGGCACACTAGAGCAAGTTTAATACCCCTCCATGCTCATTCATGGGGGTTTCTGCCTACAGGGGAATTGAAAACTTTATCCGATTTTTAAAAATTCACTGGCTGCCAGGAGCTGCTGGGCCCCACTCCCCTTTCCTTGGGGTCTGTGAGCTTTGGTCTCCAGGGATGAGATGAGGTAGGGTTGGGAGGGGGTGCACTTCCTTCCTGAATCTGGGCTCCCTGAGCTGCTACTGTCACCCCTCAGGTACGCAGAGATGCCTAAGGCGGAGAAGAACGCTGTCTCCCATCGCTTCCGGGCCCTGCTGGAGCTGCAGGAGTACTTTGGCAGTTTGGCAGCTTGACTTCTGCAGCTGGAGGAGGCCCCTCAGGCCGGGGATCTGGGGAGGGCTAGCCCAAAACCTCCCGCATCGGGCAGGCACCCCCTGAAGTACTTCCTTCAGGGTTTCCCCTTTGTGAGGGTGTCGAGTAGCCTCACCGGCCTGTCTGGAGGAGCAGCTGGCTCTGCTCTGAGAAACTCTGGCAAGTGGACGCCATTCTCTTGCCCTTAGGATTCACTGCTCTCTCCTACAGCCGCCAGGCCTGGGGTCCTGAAAGGACCTTGGGTGGTAAAGCTGTACTTGGTGGGAGTGAGGGCGTGGGGAGGAACCATGCAAATCGCCTTCCATGGTTTTTAAATGCAGTAAATAACATTTCTGGATGAGACTTGTTTCCAAAATAAACCAGCTATATCTGTTTTGAACCCTGCCCCAGGCAGGTGTCTGTCTCAGTCTCCTTTGGCAGGTGCAGGAAGTTTTTTGGGTGGGGGTG
Task1_train_27628
A variant was discovered in gene SLC4A11 (solute carrier family 4 member 11), Chromosome 20. Please indicate if this mutation results in a known disease or if it's non-harmful.
Pathogenic; Corneal dystrophy-perceptive deafness syndrome
AACTTGGGGTTTCTGAAGCTACCTCCTGGCAGGCAGCAGTTAGGTTGAATTGAATTGAATTGGTGGGCACCCAGCAGCTGTCCCGTGACAAATCCCTCGCGTGGTCACAGAAGTCTTCTGGGTTGACTGTTGTGCACAGTGAGAGCGGAGGAAAACGTTTTGAGTTGGTTTCTCCACACTCGCTACCCGTCCCCAGACAGCAGGGTGGAGAGCATGCTCATACCCACCTGGATTGGTTCTCGGGGCCCTGGGGGCTCCTGATCTCCCACTCAGCACCAGGCTACCCAGTGTAAGGTGGCGTCTCATGTGGGCTTACGTTTCTCTAATTACCAAGGGGTCTGAGCACCTCTCGCTACTCCTGTTACGGTTGGGCCTCCTTCTTCCCCTGTTCACGGCCTCTGCCTCTTCTGTTGGGGCTGCTGTCCTTTGCTGGTTTGCAGGAATTCTTTGCATATTTCAGATATATTTTCAGTTTTAGATGCAGCCAATCTCTTCTGTCGGCCAACTTAGTCCATGGGGCATGTGTCAAGCCAGTCCAGGAGGTGATGTGAGCCCCAGGTGTTCCTGCTGACCACTGATGCTGCGCACCCGGCACTCCCCTGAGCCTCAGAGCCATATTCCCTGTTGTCGGCTGCCATTGGGAGACCCTGACCCACCAACAAATGAGCAAGCCAGAAACACTGCACCTTCTCCCTCCGTCAAACCATTCCCACCCCGTGTCCTGCCGTCGGCAGTCCTCCCACCTCCCTCCATCGCCACCAGTGCTGCCCCTGCCCTGTAAAATCCAGGATCCGCACAACAGATGGGATGGTTCACAAGTGCTCCACACGAAGCCTCGGCCTCCCGGCAGGCAGCTTTCATCTGAGAGTCACAGGGCCCTTTGCTGTCACCCTGATGGTCCCTCCCGCCCCACTGCTCTTCACCAGCCACAGCGCCTCAGTGGCCCCAAGCCCTCGCTCCTCTGGACCCTTGCACATGCTGTTCCCAGAACGCTTTCCCTGCAGGTCCCTGGAGAAATGGCCATGCGAAGGCCTCCTGGATCTTCCATGTTTCACTGTTGGGCCAGCACCCACTGTGCGACGTTGGAGGTGACAGACCACAGGTGGCACTCCACAAACTCTGTCCCTTGCATTCCACTTCCCCAGGGAGGGCTTCCCCTCCCCAGAGTGGGGGTGGAGTGGCAGTAGCAGGGACACAGGTGGCACATAGGAGCCTAGAAACAGGAGCTTTATTCTCTAATGTGCGTCCAGCAAGTTCCTTACACAATCAAGGAAATGGTTTCTCTTTCAGGCATCGACTCTTTTATCAAAAGAAAATCCATCCTGCTCAGTCCCACCCACCCTGGGCAGAAGCTGCCCTGAGCAACGCTCTTGGCCTAAAGCTAAAGGATAATGGGAGAGGGGTGGGCACATACCACTGCACCCCTACAATGCCCAGATGCCCCAGGCCTGAGTCAGCCATGAGAAGGCGCAGCACAGAGCAGTCACCCACACACCTACACCTCCCCTCACAGCTCCAGAGCCAGCCTGGGAGGACGTGGAGGGCTGGCGAATGGGGCGTGGGCAGGGTCTGCCAGTCAAGGCCTGTGCTCAGCGTCCATGACATCCAAGTACTTGGCTTCAATGATTCGGGGCAGCAGGATATAGCTGTGGGGAGGGAGGGACAGGAGGATGAGCCTGGGTCAGAGAGAAGGCAGTGGACACCCATCCCAGCCCACCCCAGCCCACCCACAGGGCCAGGCTAGGCCTCTCCTCCCCGCCCGCCTACCCCCAGCCCACCCACTCTCCACTCCTAGACTGGAGCCCCTCCTGCCCACCACCCACCCCAGCCCGCCCACTCTCCACCTCTAGGCTGGGCTCCTCCTGCCCGCCAGCCTCCCCAGCCCGCCCACTCTCCACCCCTAGGCAGGACCCCTCCTCCTGGGCACCCACCCCAACCCGCCCATTCTCCGCCCCTAGGTGGGACCCCTCCTCCCAGCCGCTGCCCCAGCCCGCCCATTCTCCACACCTAGACTGGGCCCCTCCTGCCCACTGCCCACCCGCCTGTACCGGATGGGGATCATGGCGATCATGATGAGGGGAAAGATCATCTTCATGTAGGGCAGGGAGCTCATGCCGAAGGCACACAGCAGCAGCAGCTGAAGCACCTGCAGGCCCGTGAAGTAGTGGATCTTCCTCTGGGGCACCCTCCGGATGTAGTGTGTCGGGGGGTACGCAGTCTGTGGGCGGCAGGGACCGGGTGTGGGCAGGCATGGGGCTGTGTCCCCACCCACGCCACTCCCTCGCAGGGCCAAGCGCTCACCTGCTCCTTGAGCAGCAGGGCCACGCGCTGGACGAGCTGGTTGCCATCGAGGGAGGTGAGCGCGATGTAGAGGAAGAGGCCATAGAGCACGGGCTTGGGGATCCACTGAAGCGGGACCGGCAGCAGCAACAGGGACAGGCCCACCAGGACGCTGGCGCCCAGCGAGGTCAGCCGCGTCTCCTTCACGTTCACAATCCTGCGGTGGCCCGAGCCGCGAGTGTCACCTCTGCGCCCCTGTCCACAGGGCCTCACTCCTCCCTATGTCCCATGTGGCCAGAGGCTCCCCACTCCTCAGGGTCCACGGCTCTTGCCAGCCTCACACTCACGTGTCATAGATGTGTCCGTTCTCCACACGCTCCTCCACTAAGGCCAGGGCTCGCACGTGCAGCGGGGAGTGGGGGTAGGCGGCATGGATCCAAGGCAGCCCAAACAGAGACAGCCCTGTGTTGATGATGGCGAGGAGCAGGAGGTCCCAGTGGTAGGCAGTGCCCTTCACCAGCCTGCAGCAGACGGGCACTCGTGGACAGAGCCCCACAGCAGAGGCCCGGGCCCCGCCCACCCCACCCTCACCCACCCTCCACACCTGTTCTCCGGTGCATTCACCAAGGCGGCCACCAAGTTCTGCTCGATGAAGAAGAGCATGGACAGCAGGAAGCCGAGGCCCATGGCACCGCTGACGGCCCTCAGGGACAGCGACTGGATCTGCGCCATCGCAAAGGGGCTCTCGCTGGGGTTGTAGCGGAACTTGCTCACTGCAGTAGGGGACAGGCTACTGCTATGCCTGCAGCGCCTGGGGAGCTACCCCACGTCACCCACCGCCCGGCCCCAACTCACTCTCGATTTCCCGGAAGCCATGGGAGCTGATGAGGGAGAAGGCGAGCACCGCGATGGGCAGGGCGCAGTCGGACAGGATCTCTCGCACGCAGGGGTGCAGGTAGGGGCTGGGGACAGCAGGTGCATGAGCACAGCCTTTGACCCATGCGGCCCCTCCCCTCCCCATGCAGCCCCTCACCTCTTCTTGAATTGGTAGAGGGTGTAGCCCAGCCAGAGCGTGCCCAGCATGATGAGGAGGCTGAGCACGGCGGTCGCCTGGCCTGAGTGTGTGGCCGAGGGCAGCTCCGTGGGGCTGGCGAGGAAGCTGGCGTTGAGGGCAGTGTGGAGGCTGGCGTTGAGGCTGGCGCCGAGGCCTGACAGGCTGACAAGGGATGAAGTCCTTTTTGTGTGATAGTCGTCCAAGTAATGCCCATAGTAGTACTTCCAGAAGACTGTGGACACACACCCACAGGCCTCAGCCCTCTCCAGCGTGTGGCAGGGGGAGGCCCTGGAGGGAGGGGATCTCAGGGAGAAAGGGCTCCAGGGGGAAGGTGAGGGGACCCTGCCGACGTGCCCATGCACCCACACTCCTGCCCACTGTCCCTGTCCCATCTCTGACACCCCATCACAGTCGGCCCAGTGCCTCTGCCCCCACGGCTGGTCCCACCTGGGGCGGCCCCGTCACCCTCCAGCGTGGAGGGCTCTGCCCTCTGCCAGCCCAAGGCTCCCAGAGCACCGCACCCTTGATCACGGGCACACACTCAGCTTGAGCCAGTCCTATGTGCCCCCAGCCAGGGGCAGTGCAGAACCTCCCATCTCGGCTGAGCGCCCTGTTCAGCAGGTGGCCCCCAGCCGCACTCACTTTTAACCGTGCCCTTGACGGCATCCAGCACAAACGTGATGGAAATGAAGAGGGCGATGATCTCCTCCGTCGACCTGCCAGGAGGCCATGAGCCTCATCAGAGTGGGTGTGGTCAGGGGG
AACTTGGGGTTTCTGAAGCTACCTCCTGGCAGGCAGCAGTTAGGTTGAATTGAATTGAATTGGTGGGCACCCAGCAGCTGTCCCGTGACAAATCCCTCGCGTGGTCACAGAAGTCTTCTGGGTTGACTGTTGTGCACAGTGAGAGCGGAGGAAAACGTTTTGAGTTGGTTTCTCCACACTCGCTACCCGTCCCCAGACAGCAGGGTGGAGAGCATGCTCATACCCACCTGGATTGGTTCTCGGGGCCCTGGGGGCTCCTGATCTCCCACTCAGCACCAGGCTACCCAGTGTAAGGTGGCGTCTCATGTGGGCTTACGTTTCTCTAATTACCAAGGGGTCTGAGCACCTCTCGCTACTCCTGTTACGGTTGGGCCTCCTTCTTCCCCTGTTCACGGCCTCTGCCTCTTCTGTTGGGGCTGCTGTCCTTTGCTGGTTTGCAGGAATTCTTTGCATATTTCAGATATATTTTCAGTTTTAGATGCAGCCAATCTCTTCTGTCGGCCAACTTAGTCCATGGGGCATGTGTCAAGCCAGTCCAGGAGGTGATGTGAGCCCCAGGTGTTCCTGCTGACCACTGATGCTGCGCACCCGGCACTCCCCTGAGCCTCAGAGCCATATTCCCTGTTGTCGGCTGCCATTGGGAGACCCTGACCCACCAACAAATGAGCAAGCCAGAAACACTGCACCTTCTCCCTCCGTCAAACCATTCCCACCCCGTGTCCTGCCGTCGGCAGTCCTCCCACCTCCCTCCATCGCCACCAGTGCTGCCCCTGCCCTGTAAAATCCAGGATCCGCACAACAGATGGGATGGTTCACAAGTGCTCCACACGAAGCCTCGGCCTCCCGGCAGGCAGCTTTCATCTGAGAGTCACAGGGCCCTTTGCTGTCACCCTGATGGTCCCTCCCGCCCCACTGCTCTTCACCAGCCACAGCGCCTCAGTGGCCCCAAGCCCTCGCTCCTCTGGACCCTTGCACATGCTGTTCCCAGAACGCTTTCCCTGCAGGTCCCTGGAGAAATGGCCATGCGAAGGCCTCCTGGATCTTCCATGTTTCACTGTTGGGCCAGCACCCACTGTGCGACGTTGGAGGTGACAGACCACAGGTGGCACTCCACAAACTCTGTCCCTTGCATTCCACTTCCCCAGGGAGGGCTTCCCCTCCCCAGAGTGGGGGTGGAGTGGCAGTAGCAGGGACACAGGTGGCACATAGGAGCCTAGAAACAGGAGCTTTATTCTCTAATGTGCGTCCAGCAAGTTCCTTACACAATCAAGGAAATGGTTTCTCTTTCAGGCATCGACTCTTTTATCAAAAGAAAATCCATCCTGCTCAGTCCCACCCACCCTGGGCAGAAGCTGCCCTGAGCAACGCTCTTGGCCTAAAGCTAAAGGATAATGGGAGAGGGGTGGGCACATACCACTGCACCCCTACAATGCCCAGATGCCCCAGGCCTGAGTCAGCCATGAGAAGGCGCAGCACAGAGCAGTCACCCACACACCTACACCTCCCCTCACAGCTCCAGAGCCAGCCTGGGAGGACGTGGAGGGCTGGCGAATGGGGCGTGGGCAGGGTCTGCCAGTCAAGGCCTGTGCTCAGCGTCCATGACATCCAAGTACTTGGCTTCAATGATTCGGGGCAGCAGGATATAGCTGTGGGGAGGGAGGGACAGGAGGATGAGCCTGGGTCAGAGAGAAGGCAGTGGACACCCATCCCAGCCCACCCCAGCCCACCCACAGGGCCAGGCTAGGCCTCTCCTCCCCGCCCGCCTACCCCCAGCCCACCCACTCTCCACTCCTAGACTGGAGCCCCTCCTGCCCACCACCCACCCCAGCCCGCCCACTCTCCACCTCTAGGCTGGGCTCCTCCTGCCCGCCAGCCTCCCCAGCCCGCCCACTCTCCACCCCTAGGCAGGACCCCTCCTCCTGGGCACCCACCCCAACCCGCCCATTCTCCGCCCCTAGGTGGGACCCCTCCTCCCAGCCGCTGCCCCAGCCCGCCCATTCTCCACACCTAGACTGGGCCCCTCCTGCCCACTGCCCACCCGCCTGTACTGGATGGGGATCATGGCGATCATGATGAGGGGAAAGATCATCTTCATGTAGGGCAGGGAGCTCATGCCGAAGGCACACAGCAGCAGCAGCTGAAGCACCTGCAGGCCCGTGAAGTAGTGGATCTTCCTCTGGGGCACCCTCCGGATGTAGTGTGTCGGGGGGTACGCAGTCTGTGGGCGGCAGGGACCGGGTGTGGGCAGGCATGGGGCTGTGTCCCCACCCACGCCACTCCCTCGCAGGGCCAAGCGCTCACCTGCTCCTTGAGCAGCAGGGCCACGCGCTGGACGAGCTGGTTGCCATCGAGGGAGGTGAGCGCGATGTAGAGGAAGAGGCCATAGAGCACGGGCTTGGGGATCCACTGAAGCGGGACCGGCAGCAGCAACAGGGACAGGCCCACCAGGACGCTGGCGCCCAGCGAGGTCAGCCGCGTCTCCTTCACGTTCACAATCCTGCGGTGGCCCGAGCCGCGAGTGTCACCTCTGCGCCCCTGTCCACAGGGCCTCACTCCTCCCTATGTCCCATGTGGCCAGAGGCTCCCCACTCCTCAGGGTCCACGGCTCTTGCCAGCCTCACACTCACGTGTCATAGATGTGTCCGTTCTCCACACGCTCCTCCACTAAGGCCAGGGCTCGCACGTGCAGCGGGGAGTGGGGGTAGGCGGCATGGATCCAAGGCAGCCCAAACAGAGACAGCCCTGTGTTGATGATGGCGAGGAGCAGGAGGTCCCAGTGGTAGGCAGTGCCCTTCACCAGCCTGCAGCAGACGGGCACTCGTGGACAGAGCCCCACAGCAGAGGCCCGGGCCCCGCCCACCCCACCCTCACCCACCCTCCACACCTGTTCTCCGGTGCATTCACCAAGGCGGCCACCAAGTTCTGCTCGATGAAGAAGAGCATGGACAGCAGGAAGCCGAGGCCCATGGCACCGCTGACGGCCCTCAGGGACAGCGACTGGATCTGCGCCATCGCAAAGGGGCTCTCGCTGGGGTTGTAGCGGAACTTGCTCACTGCAGTAGGGGACAGGCTACTGCTATGCCTGCAGCGCCTGGGGAGCTACCCCACGTCACCCACCGCCCGGCCCCAACTCACTCTCGATTTCCCGGAAGCCATGGGAGCTGATGAGGGAGAAGGCGAGCACCGCGATGGGCAGGGCGCAGTCGGACAGGATCTCTCGCACGCAGGGGTGCAGGTAGGGGCTGGGGACAGCAGGTGCATGAGCACAGCCTTTGACCCATGCGGCCCCTCCCCTCCCCATGCAGCCCCTCACCTCTTCTTGAATTGGTAGAGGGTGTAGCCCAGCCAGAGCGTGCCCAGCATGATGAGGAGGCTGAGCACGGCGGTCGCCTGGCCTGAGTGTGTGGCCGAGGGCAGCTCCGTGGGGCTGGCGAGGAAGCTGGCGTTGAGGGCAGTGTGGAGGCTGGCGTTGAGGCTGGCGCCGAGGCCTGACAGGCTGACAAGGGATGAAGTCCTTTTTGTGTGATAGTCGTCCAAGTAATGCCCATAGTAGTACTTCCAGAAGACTGTGGACACACACCCACAGGCCTCAGCCCTCTCCAGCGTGTGGCAGGGGGAGGCCCTGGAGGGAGGGGATCTCAGGGAGAAAGGGCTCCAGGGGGAAGGTGAGGGGACCCTGCCGACGTGCCCATGCACCCACACTCCTGCCCACTGTCCCTGTCCCATCTCTGACACCCCATCACAGTCGGCCCAGTGCCTCTGCCCCCACGGCTGGTCCCACCTGGGGCGGCCCCGTCACCCTCCAGCGTGGAGGGCTCTGCCCTCTGCCAGCCCAAGGCTCCCAGAGCACCGCACCCTTGATCACGGGCACACACTCAGCTTGAGCCAGTCCTATGTGCCCCCAGCCAGGGGCAGTGCAGAACCTCCCATCTCGGCTGAGCGCCCTGTTCAGCAGGTGGCCCCCAGCCGCACTCACTTTTAACCGTGCCCTTGACGGCATCCAGCACAAACGTGATGGAAATGAAGAGGGCGATGATCTCCTCCGTCGACCTGCCAGGAGGCCATGAGCCTCATCAGAGTGGGTGTGGTCAGGGGG
Task1_train_27629
An alteration has been detected in SLC4A11 (solute carrier family 4 member 11) on Chromosome 20. Is it pathogenic, and if so, what disease is involved?
Pathogenic; Corneal dystrophy, Fuchs endothelial, 4
AACTTGGGGTTTCTGAAGCTACCTCCTGGCAGGCAGCAGTTAGGTTGAATTGAATTGAATTGGTGGGCACCCAGCAGCTGTCCCGTGACAAATCCCTCGCGTGGTCACAGAAGTCTTCTGGGTTGACTGTTGTGCACAGTGAGAGCGGAGGAAAACGTTTTGAGTTGGTTTCTCCACACTCGCTACCCGTCCCCAGACAGCAGGGTGGAGAGCATGCTCATACCCACCTGGATTGGTTCTCGGGGCCCTGGGGGCTCCTGATCTCCCACTCAGCACCAGGCTACCCAGTGTAAGGTGGCGTCTCATGTGGGCTTACGTTTCTCTAATTACCAAGGGGTCTGAGCACCTCTCGCTACTCCTGTTACGGTTGGGCCTCCTTCTTCCCCTGTTCACGGCCTCTGCCTCTTCTGTTGGGGCTGCTGTCCTTTGCTGGTTTGCAGGAATTCTTTGCATATTTCAGATATATTTTCAGTTTTAGATGCAGCCAATCTCTTCTGTCGGCCAACTTAGTCCATGGGGCATGTGTCAAGCCAGTCCAGGAGGTGATGTGAGCCCCAGGTGTTCCTGCTGACCACTGATGCTGCGCACCCGGCACTCCCCTGAGCCTCAGAGCCATATTCCCTGTTGTCGGCTGCCATTGGGAGACCCTGACCCACCAACAAATGAGCAAGCCAGAAACACTGCACCTTCTCCCTCCGTCAAACCATTCCCACCCCGTGTCCTGCCGTCGGCAGTCCTCCCACCTCCCTCCATCGCCACCAGTGCTGCCCCTGCCCTGTAAAATCCAGGATCCGCACAACAGATGGGATGGTTCACAAGTGCTCCACACGAAGCCTCGGCCTCCCGGCAGGCAGCTTTCATCTGAGAGTCACAGGGCCCTTTGCTGTCACCCTGATGGTCCCTCCCGCCCCACTGCTCTTCACCAGCCACAGCGCCTCAGTGGCCCCAAGCCCTCGCTCCTCTGGACCCTTGCACATGCTGTTCCCAGAACGCTTTCCCTGCAGGTCCCTGGAGAAATGGCCATGCGAAGGCCTCCTGGATCTTCCATGTTTCACTGTTGGGCCAGCACCCACTGTGCGACGTTGGAGGTGACAGACCACAGGTGGCACTCCACAAACTCTGTCCCTTGCATTCCACTTCCCCAGGGAGGGCTTCCCCTCCCCAGAGTGGGGGTGGAGTGGCAGTAGCAGGGACACAGGTGGCACATAGGAGCCTAGAAACAGGAGCTTTATTCTCTAATGTGCGTCCAGCAAGTTCCTTACACAATCAAGGAAATGGTTTCTCTTTCAGGCATCGACTCTTTTATCAAAAGAAAATCCATCCTGCTCAGTCCCACCCACCCTGGGCAGAAGCTGCCCTGAGCAACGCTCTTGGCCTAAAGCTAAAGGATAATGGGAGAGGGGTGGGCACATACCACTGCACCCCTACAATGCCCAGATGCCCCAGGCCTGAGTCAGCCATGAGAAGGCGCAGCACAGAGCAGTCACCCACACACCTACACCTCCCCTCACAGCTCCAGAGCCAGCCTGGGAGGACGTGGAGGGCTGGCGAATGGGGCGTGGGCAGGGTCTGCCAGTCAAGGCCTGTGCTCAGCGTCCATGACATCCAAGTACTTGGCTTCAATGATTCGGGGCAGCAGGATATAGCTGTGGGGAGGGAGGGACAGGAGGATGAGCCTGGGTCAGAGAGAAGGCAGTGGACACCCATCCCAGCCCACCCCAGCCCACCCACAGGGCCAGGCTAGGCCTCTCCTCCCCGCCCGCCTACCCCCAGCCCACCCACTCTCCACTCCTAGACTGGAGCCCCTCCTGCCCACCACCCACCCCAGCCCGCCCACTCTCCACCTCTAGGCTGGGCTCCTCCTGCCCGCCAGCCTCCCCAGCCCGCCCACTCTCCACCCCTAGGCAGGACCCCTCCTCCTGGGCACCCACCCCAACCCGCCCATTCTCCGCCCCTAGGTGGGACCCCTCCTCCCAGCCGCTGCCCCAGCCCGCCCATTCTCCACACCTAGACTGGGCCCCTCCTGCCCACTGCCCACCCGCCTGTACCGGATGGGGATCATGGCGATCATGATGAGGGGAAAGATCATCTTCATGTAGGGCAGGGAGCTCATGCCGAAGGCACACAGCAGCAGCAGCTGAAGCACCTGCAGGCCCGTGAAGTAGTGGATCTTCCTCTGGGGCACCCTCCGGATGTAGTGTGTCGGGGGGTACGCAGTCTGTGGGCGGCAGGGACCGGGTGTGGGCAGGCATGGGGCTGTGTCCCCACCCACGCCACTCCCTCGCAGGGCCAAGCGCTCACCTGCTCCTTGAGCAGCAGGGCCACGCGCTGGACGAGCTGGTTGCCATCGAGGGAGGTGAGCGCGATGTAGAGGAAGAGGCCATAGAGCACGGGCTTGGGGATCCACTGAAGCGGGACCGGCAGCAGCAACAGGGACAGGCCCACCAGGACGCTGGCGCCCAGCGAGGTCAGCCGCGTCTCCTTCACGTTCACAATCCTGCGGTGGCCCGAGCCGCGAGTGTCACCTCTGCGCCCCTGTCCACAGGGCCTCACTCCTCCCTATGTCCCATGTGGCCAGAGGCTCCCCACTCCTCAGGGTCCACGGCTCTTGCCAGCCTCACACTCACGTGTCATAGATGTGTCCGTTCTCCACACGCTCCTCCACTAAGGCCAGGGCTCGCACGTGCAGCGGGGAGTGGGGGTAGGCGGCATGGATCCAAGGCAGCCCAAACAGAGACAGCCCTGTGTTGATGATGGCGAGGAGCAGGAGGTCCCAGTGGTAGGCAGTGCCCTTCACCAGCCTGCAGCAGACGGGCACTCGTGGACAGAGCCCCACAGCAGAGGCCCGGGCCCCGCCCACCCCACCCTCACCCACCCTCCACACCTGTTCTCCGGTGCATTCACCAAGGCGGCCACCAAGTTCTGCTCGATGAAGAAGAGCATGGACAGCAGGAAGCCGAGGCCCATGGCACCGCTGACGGCCCTCAGGGACAGCGACTGGATCTGCGCCATCGCAAAGGGGCTCTCGCTGGGGTTGTAGCGGAACTTGCTCACTGCAGTAGGGGACAGGCTACTGCTATGCCTGCAGCGCCTGGGGAGCTACCCCACGTCACCCACCGCCCGGCCCCAACTCACTCTCGATTTCCCGGAAGCCATGGGAGCTGATGAGGGAGAAGGCGAGCACCGCGATGGGCAGGGCGCAGTCGGACAGGATCTCTCGCACGCAGGGGTGCAGGTAGGGGCTGGGGACAGCAGGTGCATGAGCACAGCCTTTGACCCATGCGGCCCCTCCCCTCCCCATGCAGCCCCTCACCTCTTCTTGAATTGGTAGAGGGTGTAGCCCAGCCAGAGCGTGCCCAGCATGATGAGGAGGCTGAGCACGGCGGTCGCCTGGCCTGAGTGTGTGGCCGAGGGCAGCTCCGTGGGGCTGGCGAGGAAGCTGGCGTTGAGGGCAGTGTGGAGGCTGGCGTTGAGGCTGGCGCCGAGGCCTGACAGGCTGACAAGGGATGAAGTCCTTTTTGTGTGATAGTCGTCCAAGTAATGCCCATAGTAGTACTTCCAGAAGACTGTGGACACACACCCACAGGCCTCAGCCCTCTCCAGCGTGTGGCAGGGGGAGGCCCTGGAGGGAGGGGATCTCAGGGAGAAAGGGCTCCAGGGGGAAGGTGAGGGGACCCTGCCGACGTGCCCATGCACCCACACTCCTGCCCACTGTCCCTGTCCCATCTCTGACACCCCATCACAGTCGGCCCAGTGCCTCTGCCCCCACGGCTGGTCCCACCTGGGGCGGCCCCGTCACCCTCCAGCGTGGAGGGCTCTGCCCTCTGCCAGCCCAAGGCTCCCAGAGCACCGCACCCTTGATCACGGGCACACACTCAGCTTGAGCCAGTCCTATGTGCCCCCAGCCAGGGGCAGTGCAGAACCTCCCATCTCGGCTGAGCGCCCTGTTCAGCAGGTGGCCCCCAGCCGCACTCACTTTTAACCGTGCCCTTGACGGCATCCAGCACAAACGTGATGGAAATGAAGAGGGCGATGATCTCCTCCGTCGACCTGCCAGGAGGCCATGAGCCTCATCAGAGTGGGTGTGGTCAGGGGG
AACTTGGGGTTTCTGAAGCTACCTCCTGGCAGGCAGCAGTTAGGTTGAATTGAATTGAATTGGTGGGCACCCAGCAGCTGTCCCGTGACAAATCCCTCGCGTGGTCACAGAAGTCTTCTGGGTTGACTGTTGTGCACAGTGAGAGCGGAGGAAAACGTTTTGAGTTGGTTTCTCCACACTCGCTACCCGTCCCCAGACAGCAGGGTGGAGAGCATGCTCATACCCACCTGGATTGGTTCTCGGGGCCCTGGGGGCTCCTGATCTCCCACTCAGCACCAGGCTACCCAGTGTAAGGTGGCGTCTCATGTGGGCTTACGTTTCTCTAATTACCAAGGGGTCTGAGCACCTCTCGCTACTCCTGTTACGGTTGGGCCTCCTTCTTCCCCTGTTCACGGCCTCTGCCTCTTCTGTTGGGGCTGCTGTCCTTTGCTGGTTTGCAGGAATTCTTTGCATATTTCAGATATATTTTCAGTTTTAGATGCAGCCAATCTCTTCTGTCGGCCAACTTAGTCCATGGGGCATGTGTCAAGCCAGTCCAGGAGGTGATGTGAGCCCCAGGTGTTCCTGCTGACCACTGATGCTGCGCACCCGGCACTCCCCTGAGCCTCAGAGCCATATTCCCTGTTGTCGGCTGCCATTGGGAGACCCTGACCCACCAACAAATGAGCAAGCCAGAAACACTGCACCTTCTCCCTCCGTCAAACCATTCCCACCCCGTGTCCTGCCGTCGGCAGTCCTCCCACCTCCCTCCATCGCCACCAGTGCTGCCCCTGCCCTGTAAAATCCAGGATCCGCACAACAGATGGGATGGTTCACAAGTGCTCCACACGAAGCCTCGGCCTCCCGGCAGGCAGCTTTCATCTGAGAGTCACAGGGCCCTTTGCTGTCACCCTGATGGTCCCTCCCGCCCCACTGCTCTTCACCAGCCACAGCGCCTCAGTGGCCCCAAGCCCTCGCTCCTCTGGACCCTTGCACATGCTGTTCCCAGAACGCTTTCCCTGCAGGTCCCTGGAGAAATGGCCATGCGAAGGCCTCCTGGATCTTCCATGTTTCACTGTTGGGCCAGCACCCACTGTGCGACGTTGGAGGTGACAGACCACAGGTGGCACTCCACAAACTCTGTCCCTTGCATTCCACTTCCCCAGGGAGGGCTTCCCCTCCCCAGAGTGGGGGTGGAGTGGCAGTAGCAGGGACACAGGTGGCACATAGGAGCCTAGAAACAGGAGCTTTATTCTCTAATGTGCGTCCAGCAAGTTCCTTACACAATCAAGGAAATGGTTTCTCTTTCAGGCATCGACTCTTTTATCAAAAGAAAATCCATCCTGCTCAGTCCCACCCACCCTGGGCAGAAGCTGCCCTGAGCAACGCTCTTGGCCTAAAGCTAAAGGATAATGGGAGAGGGGTGGGCACATACCACTGCACCCCTACAATGCCCAGATGCCCCAGGCCTGAGTCAGCCATGAGAAGGCGCAGCACAGAGCAGTCACCCACACACCTACACCTCCCCTCACAGCTCCAGAGCCAGCCTGGGAGGACGTGGAGGGCTGGCGAATGGGGCGTGGGCAGGGTCTGCCAGTCAAGGCCTGTGCTCAGCGTCCATGACATCCAAGTACTTGGCTTCAATGATTCGGGGCAGCAGGATATAGCTGTGGGGAGGGAGGGACAGGAGGATGAGCCTGGGTCAGAGAGAAGGCAGTGGACACCCATCCCAGCCCACCCCAGCCCACCCACAGGGCCAGGCTAGGCCTCTCCTCCCCGCCCGCCTACCCCCAGCCCACCCACTCTCCACTCCTAGACTGGAGCCCCTCCTGCCCACCACCCACCCCAGCCCGCCCACTCTCCACCTCTAGGCTGGGCTCCTCCTGCCCGCCAGCCTCCCCAGCCCGCCCACTCTCCACCCCTAGGCAGGACCCCTCCTCCTGGGCACCCACCCCAACCCGCCCATTCTCCGCCCCTAGGTGGGACCCCTCCTCCCAGCCGCTGCCCCAGCCCGCCCATTCTCCACACCTAGACTGGGCCCCTCCTGCCCACTGCCCACCCGCCTGTACTGGATGGGGATCATGGCGATCATGATGAGGGGAAAGATCATCTTCATGTAGGGCAGGGAGCTCATGCCGAAGGCACACAGCAGCAGCAGCTGAAGCACCTGCAGGCCCGTGAAGTAGTGGATCTTCCTCTGGGGCACCCTCCGGATGTAGTGTGTCGGGGGGTACGCAGTCTGTGGGCGGCAGGGACCGGGTGTGGGCAGGCATGGGGCTGTGTCCCCACCCACGCCACTCCCTCGCAGGGCCAAGCGCTCACCTGCTCCTTGAGCAGCAGGGCCACGCGCTGGACGAGCTGGTTGCCATCGAGGGAGGTGAGCGCGATGTAGAGGAAGAGGCCATAGAGCACGGGCTTGGGGATCCACTGAAGCGGGACCGGCAGCAGCAACAGGGACAGGCCCACCAGGACGCTGGCGCCCAGCGAGGTCAGCCGCGTCTCCTTCACGTTCACAATCCTGCGGTGGCCCGAGCCGCGAGTGTCACCTCTGCGCCCCTGTCCACAGGGCCTCACTCCTCCCTATGTCCCATGTGGCCAGAGGCTCCCCACTCCTCAGGGTCCACGGCTCTTGCCAGCCTCACACTCACGTGTCATAGATGTGTCCGTTCTCCACACGCTCCTCCACTAAGGCCAGGGCTCGCACGTGCAGCGGGGAGTGGGGGTAGGCGGCATGGATCCAAGGCAGCCCAAACAGAGACAGCCCTGTGTTGATGATGGCGAGGAGCAGGAGGTCCCAGTGGTAGGCAGTGCCCTTCACCAGCCTGCAGCAGACGGGCACTCGTGGACAGAGCCCCACAGCAGAGGCCCGGGCCCCGCCCACCCCACCCTCACCCACCCTCCACACCTGTTCTCCGGTGCATTCACCAAGGCGGCCACCAAGTTCTGCTCGATGAAGAAGAGCATGGACAGCAGGAAGCCGAGGCCCATGGCACCGCTGACGGCCCTCAGGGACAGCGACTGGATCTGCGCCATCGCAAAGGGGCTCTCGCTGGGGTTGTAGCGGAACTTGCTCACTGCAGTAGGGGACAGGCTACTGCTATGCCTGCAGCGCCTGGGGAGCTACCCCACGTCACCCACCGCCCGGCCCCAACTCACTCTCGATTTCCCGGAAGCCATGGGAGCTGATGAGGGAGAAGGCGAGCACCGCGATGGGCAGGGCGCAGTCGGACAGGATCTCTCGCACGCAGGGGTGCAGGTAGGGGCTGGGGACAGCAGGTGCATGAGCACAGCCTTTGACCCATGCGGCCCCTCCCCTCCCCATGCAGCCCCTCACCTCTTCTTGAATTGGTAGAGGGTGTAGCCCAGCCAGAGCGTGCCCAGCATGATGAGGAGGCTGAGCACGGCGGTCGCCTGGCCTGAGTGTGTGGCCGAGGGCAGCTCCGTGGGGCTGGCGAGGAAGCTGGCGTTGAGGGCAGTGTGGAGGCTGGCGTTGAGGCTGGCGCCGAGGCCTGACAGGCTGACAAGGGATGAAGTCCTTTTTGTGTGATAGTCGTCCAAGTAATGCCCATAGTAGTACTTCCAGAAGACTGTGGACACACACCCACAGGCCTCAGCCCTCTCCAGCGTGTGGCAGGGGGAGGCCCTGGAGGGAGGGGATCTCAGGGAGAAAGGGCTCCAGGGGGAAGGTGAGGGGACCCTGCCGACGTGCCCATGCACCCACACTCCTGCCCACTGTCCCTGTCCCATCTCTGACACCCCATCACAGTCGGCCCAGTGCCTCTGCCCCCACGGCTGGTCCCACCTGGGGCGGCCCCGTCACCCTCCAGCGTGGAGGGCTCTGCCCTCTGCCAGCCCAAGGCTCCCAGAGCACCGCACCCTTGATCACGGGCACACACTCAGCTTGAGCCAGTCCTATGTGCCCCCAGCCAGGGGCAGTGCAGAACCTCCCATCTCGGCTGAGCGCCCTGTTCAGCAGGTGGCCCCCAGCCGCACTCACTTTTAACCGTGCCCTTGACGGCATCCAGCACAAACGTGATGGAAATGAAGAGGGCGATGATCTCCTCCGTCGACCTGCCAGGAGGCCATGAGCCTCATCAGAGTGGGTGTGGTCAGGGGG
Task1_train_27630
A change on Chromosome 20 affects gene SLC4A11 (solute carrier family 4 member 11). Identify whether the variant is neutral or disease-linked. Mention the disease if applicable.
Pathogenic; Congenital hereditary endothelial dystrophy of cornea
AACTTGGGGTTTCTGAAGCTACCTCCTGGCAGGCAGCAGTTAGGTTGAATTGAATTGAATTGGTGGGCACCCAGCAGCTGTCCCGTGACAAATCCCTCGCGTGGTCACAGAAGTCTTCTGGGTTGACTGTTGTGCACAGTGAGAGCGGAGGAAAACGTTTTGAGTTGGTTTCTCCACACTCGCTACCCGTCCCCAGACAGCAGGGTGGAGAGCATGCTCATACCCACCTGGATTGGTTCTCGGGGCCCTGGGGGCTCCTGATCTCCCACTCAGCACCAGGCTACCCAGTGTAAGGTGGCGTCTCATGTGGGCTTACGTTTCTCTAATTACCAAGGGGTCTGAGCACCTCTCGCTACTCCTGTTACGGTTGGGCCTCCTTCTTCCCCTGTTCACGGCCTCTGCCTCTTCTGTTGGGGCTGCTGTCCTTTGCTGGTTTGCAGGAATTCTTTGCATATTTCAGATATATTTTCAGTTTTAGATGCAGCCAATCTCTTCTGTCGGCCAACTTAGTCCATGGGGCATGTGTCAAGCCAGTCCAGGAGGTGATGTGAGCCCCAGGTGTTCCTGCTGACCACTGATGCTGCGCACCCGGCACTCCCCTGAGCCTCAGAGCCATATTCCCTGTTGTCGGCTGCCATTGGGAGACCCTGACCCACCAACAAATGAGCAAGCCAGAAACACTGCACCTTCTCCCTCCGTCAAACCATTCCCACCCCGTGTCCTGCCGTCGGCAGTCCTCCCACCTCCCTCCATCGCCACCAGTGCTGCCCCTGCCCTGTAAAATCCAGGATCCGCACAACAGATGGGATGGTTCACAAGTGCTCCACACGAAGCCTCGGCCTCCCGGCAGGCAGCTTTCATCTGAGAGTCACAGGGCCCTTTGCTGTCACCCTGATGGTCCCTCCCGCCCCACTGCTCTTCACCAGCCACAGCGCCTCAGTGGCCCCAAGCCCTCGCTCCTCTGGACCCTTGCACATGCTGTTCCCAGAACGCTTTCCCTGCAGGTCCCTGGAGAAATGGCCATGCGAAGGCCTCCTGGATCTTCCATGTTTCACTGTTGGGCCAGCACCCACTGTGCGACGTTGGAGGTGACAGACCACAGGTGGCACTCCACAAACTCTGTCCCTTGCATTCCACTTCCCCAGGGAGGGCTTCCCCTCCCCAGAGTGGGGGTGGAGTGGCAGTAGCAGGGACACAGGTGGCACATAGGAGCCTAGAAACAGGAGCTTTATTCTCTAATGTGCGTCCAGCAAGTTCCTTACACAATCAAGGAAATGGTTTCTCTTTCAGGCATCGACTCTTTTATCAAAAGAAAATCCATCCTGCTCAGTCCCACCCACCCTGGGCAGAAGCTGCCCTGAGCAACGCTCTTGGCCTAAAGCTAAAGGATAATGGGAGAGGGGTGGGCACATACCACTGCACCCCTACAATGCCCAGATGCCCCAGGCCTGAGTCAGCCATGAGAAGGCGCAGCACAGAGCAGTCACCCACACACCTACACCTCCCCTCACAGCTCCAGAGCCAGCCTGGGAGGACGTGGAGGGCTGGCGAATGGGGCGTGGGCAGGGTCTGCCAGTCAAGGCCTGTGCTCAGCGTCCATGACATCCAAGTACTTGGCTTCAATGATTCGGGGCAGCAGGATATAGCTGTGGGGAGGGAGGGACAGGAGGATGAGCCTGGGTCAGAGAGAAGGCAGTGGACACCCATCCCAGCCCACCCCAGCCCACCCACAGGGCCAGGCTAGGCCTCTCCTCCCCGCCCGCCTACCCCCAGCCCACCCACTCTCCACTCCTAGACTGGAGCCCCTCCTGCCCACCACCCACCCCAGCCCGCCCACTCTCCACCTCTAGGCTGGGCTCCTCCTGCCCGCCAGCCTCCCCAGCCCGCCCACTCTCCACCCCTAGGCAGGACCCCTCCTCCTGGGCACCCACCCCAACCCGCCCATTCTCCGCCCCTAGGTGGGACCCCTCCTCCCAGCCGCTGCCCCAGCCCGCCCATTCTCCACACCTAGACTGGGCCCCTCCTGCCCACTGCCCACCCGCCTGTACCGGATGGGGATCATGGCGATCATGATGAGGGGAAAGATCATCTTCATGTAGGGCAGGGAGCTCATGCCGAAGGCACACAGCAGCAGCAGCTGAAGCACCTGCAGGCCCGTGAAGTAGTGGATCTTCCTCTGGGGCACCCTCCGGATGTAGTGTGTCGGGGGGTACGCAGTCTGTGGGCGGCAGGGACCGGGTGTGGGCAGGCATGGGGCTGTGTCCCCACCCACGCCACTCCCTCGCAGGGCCAAGCGCTCACCTGCTCCTTGAGCAGCAGGGCCACGCGCTGGACGAGCTGGTTGCCATCGAGGGAGGTGAGCGCGATGTAGAGGAAGAGGCCATAGAGCACGGGCTTGGGGATCCACTGAAGCGGGACCGGCAGCAGCAACAGGGACAGGCCCACCAGGACGCTGGCGCCCAGCGAGGTCAGCCGCGTCTCCTTCACGTTCACAATCCTGCGGTGGCCCGAGCCGCGAGTGTCACCTCTGCGCCCCTGTCCACAGGGCCTCACTCCTCCCTATGTCCCATGTGGCCAGAGGCTCCCCACTCCTCAGGGTCCACGGCTCTTGCCAGCCTCACACTCACGTGTCATAGATGTGTCCGTTCTCCACACGCTCCTCCACTAAGGCCAGGGCTCGCACGTGCAGCGGGGAGTGGGGGTAGGCGGCATGGATCCAAGGCAGCCCAAACAGAGACAGCCCTGTGTTGATGATGGCGAGGAGCAGGAGGTCCCAGTGGTAGGCAGTGCCCTTCACCAGCCTGCAGCAGACGGGCACTCGTGGACAGAGCCCCACAGCAGAGGCCCGGGCCCCGCCCACCCCACCCTCACCCACCCTCCACACCTGTTCTCCGGTGCATTCACCAAGGCGGCCACCAAGTTCTGCTCGATGAAGAAGAGCATGGACAGCAGGAAGCCGAGGCCCATGGCACCGCTGACGGCCCTCAGGGACAGCGACTGGATCTGCGCCATCGCAAAGGGGCTCTCGCTGGGGTTGTAGCGGAACTTGCTCACTGCAGTAGGGGACAGGCTACTGCTATGCCTGCAGCGCCTGGGGAGCTACCCCACGTCACCCACCGCCCGGCCCCAACTCACTCTCGATTTCCCGGAAGCCATGGGAGCTGATGAGGGAGAAGGCGAGCACCGCGATGGGCAGGGCGCAGTCGGACAGGATCTCTCGCACGCAGGGGTGCAGGTAGGGGCTGGGGACAGCAGGTGCATGAGCACAGCCTTTGACCCATGCGGCCCCTCCCCTCCCCATGCAGCCCCTCACCTCTTCTTGAATTGGTAGAGGGTGTAGCCCAGCCAGAGCGTGCCCAGCATGATGAGGAGGCTGAGCACGGCGGTCGCCTGGCCTGAGTGTGTGGCCGAGGGCAGCTCCGTGGGGCTGGCGAGGAAGCTGGCGTTGAGGGCAGTGTGGAGGCTGGCGTTGAGGCTGGCGCCGAGGCCTGACAGGCTGACAAGGGATGAAGTCCTTTTTGTGTGATAGTCGTCCAAGTAATGCCCATAGTAGTACTTCCAGAAGACTGTGGACACACACCCACAGGCCTCAGCCCTCTCCAGCGTGTGGCAGGGGGAGGCCCTGGAGGGAGGGGATCTCAGGGAGAAAGGGCTCCAGGGGGAAGGTGAGGGGACCCTGCCGACGTGCCCATGCACCCACACTCCTGCCCACTGTCCCTGTCCCATCTCTGACACCCCATCACAGTCGGCCCAGTGCCTCTGCCCCCACGGCTGGTCCCACCTGGGGCGGCCCCGTCACCCTCCAGCGTGGAGGGCTCTGCCCTCTGCCAGCCCAAGGCTCCCAGAGCACCGCACCCTTGATCACGGGCACACACTCAGCTTGAGCCAGTCCTATGTGCCCCCAGCCAGGGGCAGTGCAGAACCTCCCATCTCGGCTGAGCGCCCTGTTCAGCAGGTGGCCCCCAGCCGCACTCACTTTTAACCGTGCCCTTGACGGCATCCAGCACAAACGTGATGGAAATGAAGAGGGCGATGATCTCCTCCGTCGACCTGCCAGGAGGCCATGAGCCTCATCAGAGTGGGTGTGGTCAGGGGG
AACTTGGGGTTTCTGAAGCTACCTCCTGGCAGGCAGCAGTTAGGTTGAATTGAATTGAATTGGTGGGCACCCAGCAGCTGTCCCGTGACAAATCCCTCGCGTGGTCACAGAAGTCTTCTGGGTTGACTGTTGTGCACAGTGAGAGCGGAGGAAAACGTTTTGAGTTGGTTTCTCCACACTCGCTACCCGTCCCCAGACAGCAGGGTGGAGAGCATGCTCATACCCACCTGGATTGGTTCTCGGGGCCCTGGGGGCTCCTGATCTCCCACTCAGCACCAGGCTACCCAGTGTAAGGTGGCGTCTCATGTGGGCTTACGTTTCTCTAATTACCAAGGGGTCTGAGCACCTCTCGCTACTCCTGTTACGGTTGGGCCTCCTTCTTCCCCTGTTCACGGCCTCTGCCTCTTCTGTTGGGGCTGCTGTCCTTTGCTGGTTTGCAGGAATTCTTTGCATATTTCAGATATATTTTCAGTTTTAGATGCAGCCAATCTCTTCTGTCGGCCAACTTAGTCCATGGGGCATGTGTCAAGCCAGTCCAGGAGGTGATGTGAGCCCCAGGTGTTCCTGCTGACCACTGATGCTGCGCACCCGGCACTCCCCTGAGCCTCAGAGCCATATTCCCTGTTGTCGGCTGCCATTGGGAGACCCTGACCCACCAACAAATGAGCAAGCCAGAAACACTGCACCTTCTCCCTCCGTCAAACCATTCCCACCCCGTGTCCTGCCGTCGGCAGTCCTCCCACCTCCCTCCATCGCCACCAGTGCTGCCCCTGCCCTGTAAAATCCAGGATCCGCACAACAGATGGGATGGTTCACAAGTGCTCCACACGAAGCCTCGGCCTCCCGGCAGGCAGCTTTCATCTGAGAGTCACAGGGCCCTTTGCTGTCACCCTGATGGTCCCTCCCGCCCCACTGCTCTTCACCAGCCACAGCGCCTCAGTGGCCCCAAGCCCTCGCTCCTCTGGACCCTTGCACATGCTGTTCCCAGAACGCTTTCCCTGCAGGTCCCTGGAGAAATGGCCATGCGAAGGCCTCCTGGATCTTCCATGTTTCACTGTTGGGCCAGCACCCACTGTGCGACGTTGGAGGTGACAGACCACAGGTGGCACTCCACAAACTCTGTCCCTTGCATTCCACTTCCCCAGGGAGGGCTTCCCCTCCCCAGAGTGGGGGTGGAGTGGCAGTAGCAGGGACACAGGTGGCACATAGGAGCCTAGAAACAGGAGCTTTATTCTCTAATGTGCGTCCAGCAAGTTCCTTACACAATCAAGGAAATGGTTTCTCTTTCAGGCATCGACTCTTTTATCAAAAGAAAATCCATCCTGCTCAGTCCCACCCACCCTGGGCAGAAGCTGCCCTGAGCAACGCTCTTGGCCTAAAGCTAAAGGATAATGGGAGAGGGGTGGGCACATACCACTGCACCCCTACAATGCCCAGATGCCCCAGGCCTGAGTCAGCCATGAGAAGGCGCAGCACAGAGCAGTCACCCACACACCTACACCTCCCCTCACAGCTCCAGAGCCAGCCTGGGAGGACGTGGAGGGCTGGCGAATGGGGCGTGGGCAGGGTCTGCCAGTCAAGGCCTGTGCTCAGCGTCCATGACATCCAAGTACTTGGCTTCAATGATTCGGGGCAGCAGGATATAGCTGTGGGGAGGGAGGGACAGGAGGATGAGCCTGGGTCAGAGAGAAGGCAGTGGACACCCATCCCAGCCCACCCCAGCCCACCCACAGGGCCAGGCTAGGCCTCTCCTCCCCGCCCGCCTACCCCCAGCCCACCCACTCTCCACTCCTAGACTGGAGCCCCTCCTGCCCACCACCCACCCCAGCCCGCCCACTCTCCACCTCTAGGCTGGGCTCCTCCTGCCCGCCAGCCTCCCCAGCCCGCCCACTCTCCACCCCTAGGCAGGACCCCTCCTCCTGGGCACCCACCCCAACCCGCCCATTCTCCGCCCCTAGGTGGGACCCCTCCTCCCAGCCGCTGCCCCAGCCCGCCCATTCTCCACACCTAGACTGGGCCCCTCCTGCCCACTGCCCACCCGCCTGTACTGGATGGGGATCATGGCGATCATGATGAGGGGAAAGATCATCTTCATGTAGGGCAGGGAGCTCATGCCGAAGGCACACAGCAGCAGCAGCTGAAGCACCTGCAGGCCCGTGAAGTAGTGGATCTTCCTCTGGGGCACCCTCCGGATGTAGTGTGTCGGGGGGTACGCAGTCTGTGGGCGGCAGGGACCGGGTGTGGGCAGGCATGGGGCTGTGTCCCCACCCACGCCACTCCCTCGCAGGGCCAAGCGCTCACCTGCTCCTTGAGCAGCAGGGCCACGCGCTGGACGAGCTGGTTGCCATCGAGGGAGGTGAGCGCGATGTAGAGGAAGAGGCCATAGAGCACGGGCTTGGGGATCCACTGAAGCGGGACCGGCAGCAGCAACAGGGACAGGCCCACCAGGACGCTGGCGCCCAGCGAGGTCAGCCGCGTCTCCTTCACGTTCACAATCCTGCGGTGGCCCGAGCCGCGAGTGTCACCTCTGCGCCCCTGTCCACAGGGCCTCACTCCTCCCTATGTCCCATGTGGCCAGAGGCTCCCCACTCCTCAGGGTCCACGGCTCTTGCCAGCCTCACACTCACGTGTCATAGATGTGTCCGTTCTCCACACGCTCCTCCACTAAGGCCAGGGCTCGCACGTGCAGCGGGGAGTGGGGGTAGGCGGCATGGATCCAAGGCAGCCCAAACAGAGACAGCCCTGTGTTGATGATGGCGAGGAGCAGGAGGTCCCAGTGGTAGGCAGTGCCCTTCACCAGCCTGCAGCAGACGGGCACTCGTGGACAGAGCCCCACAGCAGAGGCCCGGGCCCCGCCCACCCCACCCTCACCCACCCTCCACACCTGTTCTCCGGTGCATTCACCAAGGCGGCCACCAAGTTCTGCTCGATGAAGAAGAGCATGGACAGCAGGAAGCCGAGGCCCATGGCACCGCTGACGGCCCTCAGGGACAGCGACTGGATCTGCGCCATCGCAAAGGGGCTCTCGCTGGGGTTGTAGCGGAACTTGCTCACTGCAGTAGGGGACAGGCTACTGCTATGCCTGCAGCGCCTGGGGAGCTACCCCACGTCACCCACCGCCCGGCCCCAACTCACTCTCGATTTCCCGGAAGCCATGGGAGCTGATGAGGGAGAAGGCGAGCACCGCGATGGGCAGGGCGCAGTCGGACAGGATCTCTCGCACGCAGGGGTGCAGGTAGGGGCTGGGGACAGCAGGTGCATGAGCACAGCCTTTGACCCATGCGGCCCCTCCCCTCCCCATGCAGCCCCTCACCTCTTCTTGAATTGGTAGAGGGTGTAGCCCAGCCAGAGCGTGCCCAGCATGATGAGGAGGCTGAGCACGGCGGTCGCCTGGCCTGAGTGTGTGGCCGAGGGCAGCTCCGTGGGGCTGGCGAGGAAGCTGGCGTTGAGGGCAGTGTGGAGGCTGGCGTTGAGGCTGGCGCCGAGGCCTGACAGGCTGACAAGGGATGAAGTCCTTTTTGTGTGATAGTCGTCCAAGTAATGCCCATAGTAGTACTTCCAGAAGACTGTGGACACACACCCACAGGCCTCAGCCCTCTCCAGCGTGTGGCAGGGGGAGGCCCTGGAGGGAGGGGATCTCAGGGAGAAAGGGCTCCAGGGGGAAGGTGAGGGGACCCTGCCGACGTGCCCATGCACCCACACTCCTGCCCACTGTCCCTGTCCCATCTCTGACACCCCATCACAGTCGGCCCAGTGCCTCTGCCCCCACGGCTGGTCCCACCTGGGGCGGCCCCGTCACCCTCCAGCGTGGAGGGCTCTGCCCTCTGCCAGCCCAAGGCTCCCAGAGCACCGCACCCTTGATCACGGGCACACACTCAGCTTGAGCCAGTCCTATGTGCCCCCAGCCAGGGGCAGTGCAGAACCTCCCATCTCGGCTGAGCGCCCTGTTCAGCAGGTGGCCCCCAGCCGCACTCACTTTTAACCGTGCCCTTGACGGCATCCAGCACAAACGTGATGGAAATGAAGAGGGCGATGATCTCCTCCGTCGACCTGCCAGGAGGCCATGAGCCTCATCAGAGTGGGTGTGGTCAGGGGG
Task1_train_27631
Here’s a variant in SLC4A11 (solute carrier family 4 member 11) located on Chromosome 20. What is the predicted biological effect — harmless or disease-causing?
Pathogenic; not provided
ACTTGGGGTTTCTGAAGCTACCTCCTGGCAGGCAGCAGTTAGGTTGAATTGAATTGAATTGGTGGGCACCCAGCAGCTGTCCCGTGACAAATCCCTCGCGTGGTCACAGAAGTCTTCTGGGTTGACTGTTGTGCACAGTGAGAGCGGAGGAAAACGTTTTGAGTTGGTTTCTCCACACTCGCTACCCGTCCCCAGACAGCAGGGTGGAGAGCATGCTCATACCCACCTGGATTGGTTCTCGGGGCCCTGGGGGCTCCTGATCTCCCACTCAGCACCAGGCTACCCAGTGTAAGGTGGCGTCTCATGTGGGCTTACGTTTCTCTAATTACCAAGGGGTCTGAGCACCTCTCGCTACTCCTGTTACGGTTGGGCCTCCTTCTTCCCCTGTTCACGGCCTCTGCCTCTTCTGTTGGGGCTGCTGTCCTTTGCTGGTTTGCAGGAATTCTTTGCATATTTCAGATATATTTTCAGTTTTAGATGCAGCCAATCTCTTCTGTCGGCCAACTTAGTCCATGGGGCATGTGTCAAGCCAGTCCAGGAGGTGATGTGAGCCCCAGGTGTTCCTGCTGACCACTGATGCTGCGCACCCGGCACTCCCCTGAGCCTCAGAGCCATATTCCCTGTTGTCGGCTGCCATTGGGAGACCCTGACCCACCAACAAATGAGCAAGCCAGAAACACTGCACCTTCTCCCTCCGTCAAACCATTCCCACCCCGTGTCCTGCCGTCGGCAGTCCTCCCACCTCCCTCCATCGCCACCAGTGCTGCCCCTGCCCTGTAAAATCCAGGATCCGCACAACAGATGGGATGGTTCACAAGTGCTCCACACGAAGCCTCGGCCTCCCGGCAGGCAGCTTTCATCTGAGAGTCACAGGGCCCTTTGCTGTCACCCTGATGGTCCCTCCCGCCCCACTGCTCTTCACCAGCCACAGCGCCTCAGTGGCCCCAAGCCCTCGCTCCTCTGGACCCTTGCACATGCTGTTCCCAGAACGCTTTCCCTGCAGGTCCCTGGAGAAATGGCCATGCGAAGGCCTCCTGGATCTTCCATGTTTCACTGTTGGGCCAGCACCCACTGTGCGACGTTGGAGGTGACAGACCACAGGTGGCACTCCACAAACTCTGTCCCTTGCATTCCACTTCCCCAGGGAGGGCTTCCCCTCCCCAGAGTGGGGGTGGAGTGGCAGTAGCAGGGACACAGGTGGCACATAGGAGCCTAGAAACAGGAGCTTTATTCTCTAATGTGCGTCCAGCAAGTTCCTTACACAATCAAGGAAATGGTTTCTCTTTCAGGCATCGACTCTTTTATCAAAAGAAAATCCATCCTGCTCAGTCCCACCCACCCTGGGCAGAAGCTGCCCTGAGCAACGCTCTTGGCCTAAAGCTAAAGGATAATGGGAGAGGGGTGGGCACATACCACTGCACCCCTACAATGCCCAGATGCCCCAGGCCTGAGTCAGCCATGAGAAGGCGCAGCACAGAGCAGTCACCCACACACCTACACCTCCCCTCACAGCTCCAGAGCCAGCCTGGGAGGACGTGGAGGGCTGGCGAATGGGGCGTGGGCAGGGTCTGCCAGTCAAGGCCTGTGCTCAGCGTCCATGACATCCAAGTACTTGGCTTCAATGATTCGGGGCAGCAGGATATAGCTGTGGGGAGGGAGGGACAGGAGGATGAGCCTGGGTCAGAGAGAAGGCAGTGGACACCCATCCCAGCCCACCCCAGCCCACCCACAGGGCCAGGCTAGGCCTCTCCTCCCCGCCCGCCTACCCCCAGCCCACCCACTCTCCACTCCTAGACTGGAGCCCCTCCTGCCCACCACCCACCCCAGCCCGCCCACTCTCCACCTCTAGGCTGGGCTCCTCCTGCCCGCCAGCCTCCCCAGCCCGCCCACTCTCCACCCCTAGGCAGGACCCCTCCTCCTGGGCACCCACCCCAACCCGCCCATTCTCCGCCCCTAGGTGGGACCCCTCCTCCCAGCCGCTGCCCCAGCCCGCCCATTCTCCACACCTAGACTGGGCCCCTCCTGCCCACTGCCCACCCGCCTGTACCGGATGGGGATCATGGCGATCATGATGAGGGGAAAGATCATCTTCATGTAGGGCAGGGAGCTCATGCCGAAGGCACACAGCAGCAGCAGCTGAAGCACCTGCAGGCCCGTGAAGTAGTGGATCTTCCTCTGGGGCACCCTCCGGATGTAGTGTGTCGGGGGGTACGCAGTCTGTGGGCGGCAGGGACCGGGTGTGGGCAGGCATGGGGCTGTGTCCCCACCCACGCCACTCCCTCGCAGGGCCAAGCGCTCACCTGCTCCTTGAGCAGCAGGGCCACGCGCTGGACGAGCTGGTTGCCATCGAGGGAGGTGAGCGCGATGTAGAGGAAGAGGCCATAGAGCACGGGCTTGGGGATCCACTGAAGCGGGACCGGCAGCAGCAACAGGGACAGGCCCACCAGGACGCTGGCGCCCAGCGAGGTCAGCCGCGTCTCCTTCACGTTCACAATCCTGCGGTGGCCCGAGCCGCGAGTGTCACCTCTGCGCCCCTGTCCACAGGGCCTCACTCCTCCCTATGTCCCATGTGGCCAGAGGCTCCCCACTCCTCAGGGTCCACGGCTCTTGCCAGCCTCACACTCACGTGTCATAGATGTGTCCGTTCTCCACACGCTCCTCCACTAAGGCCAGGGCTCGCACGTGCAGCGGGGAGTGGGGGTAGGCGGCATGGATCCAAGGCAGCCCAAACAGAGACAGCCCTGTGTTGATGATGGCGAGGAGCAGGAGGTCCCAGTGGTAGGCAGTGCCCTTCACCAGCCTGCAGCAGACGGGCACTCGTGGACAGAGCCCCACAGCAGAGGCCCGGGCCCCGCCCACCCCACCCTCACCCACCCTCCACACCTGTTCTCCGGTGCATTCACCAAGGCGGCCACCAAGTTCTGCTCGATGAAGAAGAGCATGGACAGCAGGAAGCCGAGGCCCATGGCACCGCTGACGGCCCTCAGGGACAGCGACTGGATCTGCGCCATCGCAAAGGGGCTCTCGCTGGGGTTGTAGCGGAACTTGCTCACTGCAGTAGGGGACAGGCTACTGCTATGCCTGCAGCGCCTGGGGAGCTACCCCACGTCACCCACCGCCCGGCCCCAACTCACTCTCGATTTCCCGGAAGCCATGGGAGCTGATGAGGGAGAAGGCGAGCACCGCGATGGGCAGGGCGCAGTCGGACAGGATCTCTCGCACGCAGGGGTGCAGGTAGGGGCTGGGGACAGCAGGTGCATGAGCACAGCCTTTGACCCATGCGGCCCCTCCCCTCCCCATGCAGCCCCTCACCTCTTCTTGAATTGGTAGAGGGTGTAGCCCAGCCAGAGCGTGCCCAGCATGATGAGGAGGCTGAGCACGGCGGTCGCCTGGCCTGAGTGTGTGGCCGAGGGCAGCTCCGTGGGGCTGGCGAGGAAGCTGGCGTTGAGGGCAGTGTGGAGGCTGGCGTTGAGGCTGGCGCCGAGGCCTGACAGGCTGACAAGGGATGAAGTCCTTTTTGTGTGATAGTCGTCCAAGTAATGCCCATAGTAGTACTTCCAGAAGACTGTGGACACACACCCACAGGCCTCAGCCCTCTCCAGCGTGTGGCAGGGGGAGGCCCTGGAGGGAGGGGATCTCAGGGAGAAAGGGCTCCAGGGGGAAGGTGAGGGGACCCTGCCGACGTGCCCATGCACCCACACTCCTGCCCACTGTCCCTGTCCCATCTCTGACACCCCATCACAGTCGGCCCAGTGCCTCTGCCCCCACGGCTGGTCCCACCTGGGGCGGCCCCGTCACCCTCCAGCGTGGAGGGCTCTGCCCTCTGCCAGCCCAAGGCTCCCAGAGCACCGCACCCTTGATCACGGGCACACACTCAGCTTGAGCCAGTCCTATGTGCCCCCAGCCAGGGGCAGTGCAGAACCTCCCATCTCGGCTGAGCGCCCTGTTCAGCAGGTGGCCCCCAGCCGCACTCACTTTTAACCGTGCCCTTGACGGCATCCAGCACAAACGTGATGGAAATGAAGAGGGCGATGATCTCCTCCGTCGACCTGCCAGGAGGCCATGAGCCTCATCAGAGTGGGTGTGGTCAGGGGGC
ACTTGGGGTTTCTGAAGCTACCTCCTGGCAGGCAGCAGTTAGGTTGAATTGAATTGAATTGGTGGGCACCCAGCAGCTGTCCCGTGACAAATCCCTCGCGTGGTCACAGAAGTCTTCTGGGTTGACTGTTGTGCACAGTGAGAGCGGAGGAAAACGTTTTGAGTTGGTTTCTCCACACTCGCTACCCGTCCCCAGACAGCAGGGTGGAGAGCATGCTCATACCCACCTGGATTGGTTCTCGGGGCCCTGGGGGCTCCTGATCTCCCACTCAGCACCAGGCTACCCAGTGTAAGGTGGCGTCTCATGTGGGCTTACGTTTCTCTAATTACCAAGGGGTCTGAGCACCTCTCGCTACTCCTGTTACGGTTGGGCCTCCTTCTTCCCCTGTTCACGGCCTCTGCCTCTTCTGTTGGGGCTGCTGTCCTTTGCTGGTTTGCAGGAATTCTTTGCATATTTCAGATATATTTTCAGTTTTAGATGCAGCCAATCTCTTCTGTCGGCCAACTTAGTCCATGGGGCATGTGTCAAGCCAGTCCAGGAGGTGATGTGAGCCCCAGGTGTTCCTGCTGACCACTGATGCTGCGCACCCGGCACTCCCCTGAGCCTCAGAGCCATATTCCCTGTTGTCGGCTGCCATTGGGAGACCCTGACCCACCAACAAATGAGCAAGCCAGAAACACTGCACCTTCTCCCTCCGTCAAACCATTCCCACCCCGTGTCCTGCCGTCGGCAGTCCTCCCACCTCCCTCCATCGCCACCAGTGCTGCCCCTGCCCTGTAAAATCCAGGATCCGCACAACAGATGGGATGGTTCACAAGTGCTCCACACGAAGCCTCGGCCTCCCGGCAGGCAGCTTTCATCTGAGAGTCACAGGGCCCTTTGCTGTCACCCTGATGGTCCCTCCCGCCCCACTGCTCTTCACCAGCCACAGCGCCTCAGTGGCCCCAAGCCCTCGCTCCTCTGGACCCTTGCACATGCTGTTCCCAGAACGCTTTCCCTGCAGGTCCCTGGAGAAATGGCCATGCGAAGGCCTCCTGGATCTTCCATGTTTCACTGTTGGGCCAGCACCCACTGTGCGACGTTGGAGGTGACAGACCACAGGTGGCACTCCACAAACTCTGTCCCTTGCATTCCACTTCCCCAGGGAGGGCTTCCCCTCCCCAGAGTGGGGGTGGAGTGGCAGTAGCAGGGACACAGGTGGCACATAGGAGCCTAGAAACAGGAGCTTTATTCTCTAATGTGCGTCCAGCAAGTTCCTTACACAATCAAGGAAATGGTTTCTCTTTCAGGCATCGACTCTTTTATCAAAAGAAAATCCATCCTGCTCAGTCCCACCCACCCTGGGCAGAAGCTGCCCTGAGCAACGCTCTTGGCCTAAAGCTAAAGGATAATGGGAGAGGGGTGGGCACATACCACTGCACCCCTACAATGCCCAGATGCCCCAGGCCTGAGTCAGCCATGAGAAGGCGCAGCACAGAGCAGTCACCCACACACCTACACCTCCCCTCACAGCTCCAGAGCCAGCCTGGGAGGACGTGGAGGGCTGGCGAATGGGGCGTGGGCAGGGTCTGCCAGTCAAGGCCTGTGCTCAGCGTCCATGACATCCAAGTACTTGGCTTCAATGATTCGGGGCAGCAGGATATAGCTGTGGGGAGGGAGGGACAGGAGGATGAGCCTGGGTCAGAGAGAAGGCAGTGGACACCCATCCCAGCCCACCCCAGCCCACCCACAGGGCCAGGCTAGGCCTCTCCTCCCCGCCCGCCTACCCCCAGCCCACCCACTCTCCACTCCTAGACTGGAGCCCCTCCTGCCCACCACCCACCCCAGCCCGCCCACTCTCCACCTCTAGGCTGGGCTCCTCCTGCCCGCCAGCCTCCCCAGCCCGCCCACTCTCCACCCCTAGGCAGGACCCCTCCTCCTGGGCACCCACCCCAACCCGCCCATTCTCCGCCCCTAGGTGGGACCCCTCCTCCCAGCCGCTGCCCCAGCCCGCCCATTCTCCACACCTAGACTGGGCCCCTCCTGCCCACTGCCCACCCGCCTGTACCAGATGGGGATCATGGCGATCATGATGAGGGGAAAGATCATCTTCATGTAGGGCAGGGAGCTCATGCCGAAGGCACACAGCAGCAGCAGCTGAAGCACCTGCAGGCCCGTGAAGTAGTGGATCTTCCTCTGGGGCACCCTCCGGATGTAGTGTGTCGGGGGGTACGCAGTCTGTGGGCGGCAGGGACCGGGTGTGGGCAGGCATGGGGCTGTGTCCCCACCCACGCCACTCCCTCGCAGGGCCAAGCGCTCACCTGCTCCTTGAGCAGCAGGGCCACGCGCTGGACGAGCTGGTTGCCATCGAGGGAGGTGAGCGCGATGTAGAGGAAGAGGCCATAGAGCACGGGCTTGGGGATCCACTGAAGCGGGACCGGCAGCAGCAACAGGGACAGGCCCACCAGGACGCTGGCGCCCAGCGAGGTCAGCCGCGTCTCCTTCACGTTCACAATCCTGCGGTGGCCCGAGCCGCGAGTGTCACCTCTGCGCCCCTGTCCACAGGGCCTCACTCCTCCCTATGTCCCATGTGGCCAGAGGCTCCCCACTCCTCAGGGTCCACGGCTCTTGCCAGCCTCACACTCACGTGTCATAGATGTGTCCGTTCTCCACACGCTCCTCCACTAAGGCCAGGGCTCGCACGTGCAGCGGGGAGTGGGGGTAGGCGGCATGGATCCAAGGCAGCCCAAACAGAGACAGCCCTGTGTTGATGATGGCGAGGAGCAGGAGGTCCCAGTGGTAGGCAGTGCCCTTCACCAGCCTGCAGCAGACGGGCACTCGTGGACAGAGCCCCACAGCAGAGGCCCGGGCCCCGCCCACCCCACCCTCACCCACCCTCCACACCTGTTCTCCGGTGCATTCACCAAGGCGGCCACCAAGTTCTGCTCGATGAAGAAGAGCATGGACAGCAGGAAGCCGAGGCCCATGGCACCGCTGACGGCCCTCAGGGACAGCGACTGGATCTGCGCCATCGCAAAGGGGCTCTCGCTGGGGTTGTAGCGGAACTTGCTCACTGCAGTAGGGGACAGGCTACTGCTATGCCTGCAGCGCCTGGGGAGCTACCCCACGTCACCCACCGCCCGGCCCCAACTCACTCTCGATTTCCCGGAAGCCATGGGAGCTGATGAGGGAGAAGGCGAGCACCGCGATGGGCAGGGCGCAGTCGGACAGGATCTCTCGCACGCAGGGGTGCAGGTAGGGGCTGGGGACAGCAGGTGCATGAGCACAGCCTTTGACCCATGCGGCCCCTCCCCTCCCCATGCAGCCCCTCACCTCTTCTTGAATTGGTAGAGGGTGTAGCCCAGCCAGAGCGTGCCCAGCATGATGAGGAGGCTGAGCACGGCGGTCGCCTGGCCTGAGTGTGTGGCCGAGGGCAGCTCCGTGGGGCTGGCGAGGAAGCTGGCGTTGAGGGCAGTGTGGAGGCTGGCGTTGAGGCTGGCGCCGAGGCCTGACAGGCTGACAAGGGATGAAGTCCTTTTTGTGTGATAGTCGTCCAAGTAATGCCCATAGTAGTACTTCCAGAAGACTGTGGACACACACCCACAGGCCTCAGCCCTCTCCAGCGTGTGGCAGGGGGAGGCCCTGGAGGGAGGGGATCTCAGGGAGAAAGGGCTCCAGGGGGAAGGTGAGGGGACCCTGCCGACGTGCCCATGCACCCACACTCCTGCCCACTGTCCCTGTCCCATCTCTGACACCCCATCACAGTCGGCCCAGTGCCTCTGCCCCCACGGCTGGTCCCACCTGGGGCGGCCCCGTCACCCTCCAGCGTGGAGGGCTCTGCCCTCTGCCAGCCCAAGGCTCCCAGAGCACCGCACCCTTGATCACGGGCACACACTCAGCTTGAGCCAGTCCTATGTGCCCCCAGCCAGGGGCAGTGCAGAACCTCCCATCTCGGCTGAGCGCCCTGTTCAGCAGGTGGCCCCCAGCCGCACTCACTTTTAACCGTGCCCTTGACGGCATCCAGCACAAACGTGATGGAAATGAAGAGGGCGATGATCTCCTCCGTCGACCTGCCAGGAGGCCATGAGCCTCATCAGAGTGGGTGTGGTCAGGGGGC
Task1_train_27632
Given this variant in gene SLC4A11 (solute carrier family 4 member 11) on Chromosome 20, classify it as benign or pathogenic. Include the disorder it may cause if applicable.
Pathogenic; Corneal dystrophy-perceptive deafness syndrome
TAGGTTGAATTGAATTGAATTGGTGGGCACCCAGCAGCTGTCCCGTGACAAATCCCTCGCGTGGTCACAGAAGTCTTCTGGGTTGACTGTTGTGCACAGTGAGAGCGGAGGAAAACGTTTTGAGTTGGTTTCTCCACACTCGCTACCCGTCCCCAGACAGCAGGGTGGAGAGCATGCTCATACCCACCTGGATTGGTTCTCGGGGCCCTGGGGGCTCCTGATCTCCCACTCAGCACCAGGCTACCCAGTGTAAGGTGGCGTCTCATGTGGGCTTACGTTTCTCTAATTACCAAGGGGTCTGAGCACCTCTCGCTACTCCTGTTACGGTTGGGCCTCCTTCTTCCCCTGTTCACGGCCTCTGCCTCTTCTGTTGGGGCTGCTGTCCTTTGCTGGTTTGCAGGAATTCTTTGCATATTTCAGATATATTTTCAGTTTTAGATGCAGCCAATCTCTTCTGTCGGCCAACTTAGTCCATGGGGCATGTGTCAAGCCAGTCCAGGAGGTGATGTGAGCCCCAGGTGTTCCTGCTGACCACTGATGCTGCGCACCCGGCACTCCCCTGAGCCTCAGAGCCATATTCCCTGTTGTCGGCTGCCATTGGGAGACCCTGACCCACCAACAAATGAGCAAGCCAGAAACACTGCACCTTCTCCCTCCGTCAAACCATTCCCACCCCGTGTCCTGCCGTCGGCAGTCCTCCCACCTCCCTCCATCGCCACCAGTGCTGCCCCTGCCCTGTAAAATCCAGGATCCGCACAACAGATGGGATGGTTCACAAGTGCTCCACACGAAGCCTCGGCCTCCCGGCAGGCAGCTTTCATCTGAGAGTCACAGGGCCCTTTGCTGTCACCCTGATGGTCCCTCCCGCCCCACTGCTCTTCACCAGCCACAGCGCCTCAGTGGCCCCAAGCCCTCGCTCCTCTGGACCCTTGCACATGCTGTTCCCAGAACGCTTTCCCTGCAGGTCCCTGGAGAAATGGCCATGCGAAGGCCTCCTGGATCTTCCATGTTTCACTGTTGGGCCAGCACCCACTGTGCGACGTTGGAGGTGACAGACCACAGGTGGCACTCCACAAACTCTGTCCCTTGCATTCCACTTCCCCAGGGAGGGCTTCCCCTCCCCAGAGTGGGGGTGGAGTGGCAGTAGCAGGGACACAGGTGGCACATAGGAGCCTAGAAACAGGAGCTTTATTCTCTAATGTGCGTCCAGCAAGTTCCTTACACAATCAAGGAAATGGTTTCTCTTTCAGGCATCGACTCTTTTATCAAAAGAAAATCCATCCTGCTCAGTCCCACCCACCCTGGGCAGAAGCTGCCCTGAGCAACGCTCTTGGCCTAAAGCTAAAGGATAATGGGAGAGGGGTGGGCACATACCACTGCACCCCTACAATGCCCAGATGCCCCAGGCCTGAGTCAGCCATGAGAAGGCGCAGCACAGAGCAGTCACCCACACACCTACACCTCCCCTCACAGCTCCAGAGCCAGCCTGGGAGGACGTGGAGGGCTGGCGAATGGGGCGTGGGCAGGGTCTGCCAGTCAAGGCCTGTGCTCAGCGTCCATGACATCCAAGTACTTGGCTTCAATGATTCGGGGCAGCAGGATATAGCTGTGGGGAGGGAGGGACAGGAGGATGAGCCTGGGTCAGAGAGAAGGCAGTGGACACCCATCCCAGCCCACCCCAGCCCACCCACAGGGCCAGGCTAGGCCTCTCCTCCCCGCCCGCCTACCCCCAGCCCACCCACTCTCCACTCCTAGACTGGAGCCCCTCCTGCCCACCACCCACCCCAGCCCGCCCACTCTCCACCTCTAGGCTGGGCTCCTCCTGCCCGCCAGCCTCCCCAGCCCGCCCACTCTCCACCCCTAGGCAGGACCCCTCCTCCTGGGCACCCACCCCAACCCGCCCATTCTCCGCCCCTAGGTGGGACCCCTCCTCCCAGCCGCTGCCCCAGCCCGCCCATTCTCCACACCTAGACTGGGCCCCTCCTGCCCACTGCCCACCCGCCTGTACCGGATGGGGATCATGGCGATCATGATGAGGGGAAAGATCATCTTCATGTAGGGCAGGGAGCTCATGCCGAAGGCACACAGCAGCAGCAGCTGAAGCACCTGCAGGCCCGTGAAGTAGTGGATCTTCCTCTGGGGCACCCTCCGGATGTAGTGTGTCGGGGGGTACGCAGTCTGTGGGCGGCAGGGACCGGGTGTGGGCAGGCATGGGGCTGTGTCCCCACCCACGCCACTCCCTCGCAGGGCCAAGCGCTCACCTGCTCCTTGAGCAGCAGGGCCACGCGCTGGACGAGCTGGTTGCCATCGAGGGAGGTGAGCGCGATGTAGAGGAAGAGGCCATAGAGCACGGGCTTGGGGATCCACTGAAGCGGGACCGGCAGCAGCAACAGGGACAGGCCCACCAGGACGCTGGCGCCCAGCGAGGTCAGCCGCGTCTCCTTCACGTTCACAATCCTGCGGTGGCCCGAGCCGCGAGTGTCACCTCTGCGCCCCTGTCCACAGGGCCTCACTCCTCCCTATGTCCCATGTGGCCAGAGGCTCCCCACTCCTCAGGGTCCACGGCTCTTGCCAGCCTCACACTCACGTGTCATAGATGTGTCCGTTCTCCACACGCTCCTCCACTAAGGCCAGGGCTCGCACGTGCAGCGGGGAGTGGGGGTAGGCGGCATGGATCCAAGGCAGCCCAAACAGAGACAGCCCTGTGTTGATGATGGCGAGGAGCAGGAGGTCCCAGTGGTAGGCAGTGCCCTTCACCAGCCTGCAGCAGACGGGCACTCGTGGACAGAGCCCCACAGCAGAGGCCCGGGCCCCGCCCACCCCACCCTCACCCACCCTCCACACCTGTTCTCCGGTGCATTCACCAAGGCGGCCACCAAGTTCTGCTCGATGAAGAAGAGCATGGACAGCAGGAAGCCGAGGCCCATGGCACCGCTGACGGCCCTCAGGGACAGCGACTGGATCTGCGCCATCGCAAAGGGGCTCTCGCTGGGGTTGTAGCGGAACTTGCTCACTGCAGTAGGGGACAGGCTACTGCTATGCCTGCAGCGCCTGGGGAGCTACCCCACGTCACCCACCGCCCGGCCCCAACTCACTCTCGATTTCCCGGAAGCCATGGGAGCTGATGAGGGAGAAGGCGAGCACCGCGATGGGCAGGGCGCAGTCGGACAGGATCTCTCGCACGCAGGGGTGCAGGTAGGGGCTGGGGACAGCAGGTGCATGAGCACAGCCTTTGACCCATGCGGCCCCTCCCCTCCCCATGCAGCCCCTCACCTCTTCTTGAATTGGTAGAGGGTGTAGCCCAGCCAGAGCGTGCCCAGCATGATGAGGAGGCTGAGCACGGCGGTCGCCTGGCCTGAGTGTGTGGCCGAGGGCAGCTCCGTGGGGCTGGCGAGGAAGCTGGCGTTGAGGGCAGTGTGGAGGCTGGCGTTGAGGCTGGCGCCGAGGCCTGACAGGCTGACAAGGGATGAAGTCCTTTTTGTGTGATAGTCGTCCAAGTAATGCCCATAGTAGTACTTCCAGAAGACTGTGGACACACACCCACAGGCCTCAGCCCTCTCCAGCGTGTGGCAGGGGGAGGCCCTGGAGGGAGGGGATCTCAGGGAGAAAGGGCTCCAGGGGGAAGGTGAGGGGACCCTGCCGACGTGCCCATGCACCCACACTCCTGCCCACTGTCCCTGTCCCATCTCTGACACCCCATCACAGTCGGCCCAGTGCCTCTGCCCCCACGGCTGGTCCCACCTGGGGCGGCCCCGTCACCCTCCAGCGTGGAGGGCTCTGCCCTCTGCCAGCCCAAGGCTCCCAGAGCACCGCACCCTTGATCACGGGCACACACTCAGCTTGAGCCAGTCCTATGTGCCCCCAGCCAGGGGCAGTGCAGAACCTCCCATCTCGGCTGAGCGCCCTGTTCAGCAGGTGGCCCCCAGCCGCACTCACTTTTAACCGTGCCCTTGACGGCATCCAGCACAAACGTGATGGAAATGAAGAGGGCGATGATCTCCTCCGTCGACCTGCCAGGAGGCCATGAGCCTCATCAGAGTGGGTGTGGTCAGGGGGCAGGTGGGGGAGGCCTCCCTGAGCCCCTGCACAGTCCCCT
TAGGTTGAATTGAATTGAATTGGTGGGCACCCAGCAGCTGTCCCGTGACAAATCCCTCGCGTGGTCACAGAAGTCTTCTGGGTTGACTGTTGTGCACAGTGAGAGCGGAGGAAAACGTTTTGAGTTGGTTTCTCCACACTCGCTACCCGTCCCCAGACAGCAGGGTGGAGAGCATGCTCATACCCACCTGGATTGGTTCTCGGGGCCCTGGGGGCTCCTGATCTCCCACTCAGCACCAGGCTACCCAGTGTAAGGTGGCGTCTCATGTGGGCTTACGTTTCTCTAATTACCAAGGGGTCTGAGCACCTCTCGCTACTCCTGTTACGGTTGGGCCTCCTTCTTCCCCTGTTCACGGCCTCTGCCTCTTCTGTTGGGGCTGCTGTCCTTTGCTGGTTTGCAGGAATTCTTTGCATATTTCAGATATATTTTCAGTTTTAGATGCAGCCAATCTCTTCTGTCGGCCAACTTAGTCCATGGGGCATGTGTCAAGCCAGTCCAGGAGGTGATGTGAGCCCCAGGTGTTCCTGCTGACCACTGATGCTGCGCACCCGGCACTCCCCTGAGCCTCAGAGCCATATTCCCTGTTGTCGGCTGCCATTGGGAGACCCTGACCCACCAACAAATGAGCAAGCCAGAAACACTGCACCTTCTCCCTCCGTCAAACCATTCCCACCCCGTGTCCTGCCGTCGGCAGTCCTCCCACCTCCCTCCATCGCCACCAGTGCTGCCCCTGCCCTGTAAAATCCAGGATCCGCACAACAGATGGGATGGTTCACAAGTGCTCCACACGAAGCCTCGGCCTCCCGGCAGGCAGCTTTCATCTGAGAGTCACAGGGCCCTTTGCTGTCACCCTGATGGTCCCTCCCGCCCCACTGCTCTTCACCAGCCACAGCGCCTCAGTGGCCCCAAGCCCTCGCTCCTCTGGACCCTTGCACATGCTGTTCCCAGAACGCTTTCCCTGCAGGTCCCTGGAGAAATGGCCATGCGAAGGCCTCCTGGATCTTCCATGTTTCACTGTTGGGCCAGCACCCACTGTGCGACGTTGGAGGTGACAGACCACAGGTGGCACTCCACAAACTCTGTCCCTTGCATTCCACTTCCCCAGGGAGGGCTTCCCCTCCCCAGAGTGGGGGTGGAGTGGCAGTAGCAGGGACACAGGTGGCACATAGGAGCCTAGAAACAGGAGCTTTATTCTCTAATGTGCGTCCAGCAAGTTCCTTACACAATCAAGGAAATGGTTTCTCTTTCAGGCATCGACTCTTTTATCAAAAGAAAATCCATCCTGCTCAGTCCCACCCACCCTGGGCAGAAGCTGCCCTGAGCAACGCTCTTGGCCTAAAGCTAAAGGATAATGGGAGAGGGGTGGGCACATACCACTGCACCCCTACAATGCCCAGATGCCCCAGGCCTGAGTCAGCCATGAGAAGGCGCAGCACAGAGCAGTCACCCACACACCTACACCTCCCCTCACAGCTCCAGAGCCAGCCTGGGAGGACGTGGAGGGCTGGCGAATGGGGCGTGGGCAGGGTCTGCCAGTCAAGGCCTGTGCTCAGCGTCCATGACATCCAAGTACTTGGCTTCAATGATTCGGGGCAGCAGGATATAGCTGTGGGGAGGGAGGGACAGGAGGATGAGCCTGGGTCAGAGAGAAGGCAGTGGACACCCATCCCAGCCCACCCCAGCCCACCCACAGGGCCAGGCTAGGCCTCTCCTCCCCGCCCGCCTACCCCCAGCCCACCCACTCTCCACTCCTAGACTGGAGCCCCTCCTGCCCACCACCCACCCCAGCCCGCCCACTCTCCACCTCTAGGCTGGGCTCCTCCTGCCCGCCAGCCTCCCCAGCCCGCCCACTCTCCACCCCTAGGCAGGACCCCTCCTCCTGGGCACCCACCCCAACCCGCCCATTCTCCGCCCCTAGGTGGGACCCCTCCTCCCAGCCGCTGCCCCAGCCCGCCCATTCTCCACACCTAGACTGGGCCCCTCCTGCCCACTGCCCACCCGCCTGTACCGGATGGGGATCATGGCGATCATGATGAGGGGAAAGATCACCTTCATGTAGGGCAGGGAGCTCATGCCGAAGGCACACAGCAGCAGCAGCTGAAGCACCTGCAGGCCCGTGAAGTAGTGGATCTTCCTCTGGGGCACCCTCCGGATGTAGTGTGTCGGGGGGTACGCAGTCTGTGGGCGGCAGGGACCGGGTGTGGGCAGGCATGGGGCTGTGTCCCCACCCACGCCACTCCCTCGCAGGGCCAAGCGCTCACCTGCTCCTTGAGCAGCAGGGCCACGCGCTGGACGAGCTGGTTGCCATCGAGGGAGGTGAGCGCGATGTAGAGGAAGAGGCCATAGAGCACGGGCTTGGGGATCCACTGAAGCGGGACCGGCAGCAGCAACAGGGACAGGCCCACCAGGACGCTGGCGCCCAGCGAGGTCAGCCGCGTCTCCTTCACGTTCACAATCCTGCGGTGGCCCGAGCCGCGAGTGTCACCTCTGCGCCCCTGTCCACAGGGCCTCACTCCTCCCTATGTCCCATGTGGCCAGAGGCTCCCCACTCCTCAGGGTCCACGGCTCTTGCCAGCCTCACACTCACGTGTCATAGATGTGTCCGTTCTCCACACGCTCCTCCACTAAGGCCAGGGCTCGCACGTGCAGCGGGGAGTGGGGGTAGGCGGCATGGATCCAAGGCAGCCCAAACAGAGACAGCCCTGTGTTGATGATGGCGAGGAGCAGGAGGTCCCAGTGGTAGGCAGTGCCCTTCACCAGCCTGCAGCAGACGGGCACTCGTGGACAGAGCCCCACAGCAGAGGCCCGGGCCCCGCCCACCCCACCCTCACCCACCCTCCACACCTGTTCTCCGGTGCATTCACCAAGGCGGCCACCAAGTTCTGCTCGATGAAGAAGAGCATGGACAGCAGGAAGCCGAGGCCCATGGCACCGCTGACGGCCCTCAGGGACAGCGACTGGATCTGCGCCATCGCAAAGGGGCTCTCGCTGGGGTTGTAGCGGAACTTGCTCACTGCAGTAGGGGACAGGCTACTGCTATGCCTGCAGCGCCTGGGGAGCTACCCCACGTCACCCACCGCCCGGCCCCAACTCACTCTCGATTTCCCGGAAGCCATGGGAGCTGATGAGGGAGAAGGCGAGCACCGCGATGGGCAGGGCGCAGTCGGACAGGATCTCTCGCACGCAGGGGTGCAGGTAGGGGCTGGGGACAGCAGGTGCATGAGCACAGCCTTTGACCCATGCGGCCCCTCCCCTCCCCATGCAGCCCCTCACCTCTTCTTGAATTGGTAGAGGGTGTAGCCCAGCCAGAGCGTGCCCAGCATGATGAGGAGGCTGAGCACGGCGGTCGCCTGGCCTGAGTGTGTGGCCGAGGGCAGCTCCGTGGGGCTGGCGAGGAAGCTGGCGTTGAGGGCAGTGTGGAGGCTGGCGTTGAGGCTGGCGCCGAGGCCTGACAGGCTGACAAGGGATGAAGTCCTTTTTGTGTGATAGTCGTCCAAGTAATGCCCATAGTAGTACTTCCAGAAGACTGTGGACACACACCCACAGGCCTCAGCCCTCTCCAGCGTGTGGCAGGGGGAGGCCCTGGAGGGAGGGGATCTCAGGGAGAAAGGGCTCCAGGGGGAAGGTGAGGGGACCCTGCCGACGTGCCCATGCACCCACACTCCTGCCCACTGTCCCTGTCCCATCTCTGACACCCCATCACAGTCGGCCCAGTGCCTCTGCCCCCACGGCTGGTCCCACCTGGGGCGGCCCCGTCACCCTCCAGCGTGGAGGGCTCTGCCCTCTGCCAGCCCAAGGCTCCCAGAGCACCGCACCCTTGATCACGGGCACACACTCAGCTTGAGCCAGTCCTATGTGCCCCCAGCCAGGGGCAGTGCAGAACCTCCCATCTCGGCTGAGCGCCCTGTTCAGCAGGTGGCCCCCAGCCGCACTCACTTTTAACCGTGCCCTTGACGGCATCCAGCACAAACGTGATGGAAATGAAGAGGGCGATGATCTCCTCCGTCGACCTGCCAGGAGGCCATGAGCCTCATCAGAGTGGGTGTGGTCAGGGGGCAGGTGGGGGAGGCCTCCCTGAGCCCCTGCACAGTCCCCT
Task1_train_27633
Mutation context: Chromosome 20, Gene SLC4A11 (solute carrier family 4 member 11). Determine if this variant is likely to be benign or pathogenic. Mention the disease if applicable.
Pathogenic; Corneal dystrophy, Fuchs endothelial, 4
TAGGTTGAATTGAATTGAATTGGTGGGCACCCAGCAGCTGTCCCGTGACAAATCCCTCGCGTGGTCACAGAAGTCTTCTGGGTTGACTGTTGTGCACAGTGAGAGCGGAGGAAAACGTTTTGAGTTGGTTTCTCCACACTCGCTACCCGTCCCCAGACAGCAGGGTGGAGAGCATGCTCATACCCACCTGGATTGGTTCTCGGGGCCCTGGGGGCTCCTGATCTCCCACTCAGCACCAGGCTACCCAGTGTAAGGTGGCGTCTCATGTGGGCTTACGTTTCTCTAATTACCAAGGGGTCTGAGCACCTCTCGCTACTCCTGTTACGGTTGGGCCTCCTTCTTCCCCTGTTCACGGCCTCTGCCTCTTCTGTTGGGGCTGCTGTCCTTTGCTGGTTTGCAGGAATTCTTTGCATATTTCAGATATATTTTCAGTTTTAGATGCAGCCAATCTCTTCTGTCGGCCAACTTAGTCCATGGGGCATGTGTCAAGCCAGTCCAGGAGGTGATGTGAGCCCCAGGTGTTCCTGCTGACCACTGATGCTGCGCACCCGGCACTCCCCTGAGCCTCAGAGCCATATTCCCTGTTGTCGGCTGCCATTGGGAGACCCTGACCCACCAACAAATGAGCAAGCCAGAAACACTGCACCTTCTCCCTCCGTCAAACCATTCCCACCCCGTGTCCTGCCGTCGGCAGTCCTCCCACCTCCCTCCATCGCCACCAGTGCTGCCCCTGCCCTGTAAAATCCAGGATCCGCACAACAGATGGGATGGTTCACAAGTGCTCCACACGAAGCCTCGGCCTCCCGGCAGGCAGCTTTCATCTGAGAGTCACAGGGCCCTTTGCTGTCACCCTGATGGTCCCTCCCGCCCCACTGCTCTTCACCAGCCACAGCGCCTCAGTGGCCCCAAGCCCTCGCTCCTCTGGACCCTTGCACATGCTGTTCCCAGAACGCTTTCCCTGCAGGTCCCTGGAGAAATGGCCATGCGAAGGCCTCCTGGATCTTCCATGTTTCACTGTTGGGCCAGCACCCACTGTGCGACGTTGGAGGTGACAGACCACAGGTGGCACTCCACAAACTCTGTCCCTTGCATTCCACTTCCCCAGGGAGGGCTTCCCCTCCCCAGAGTGGGGGTGGAGTGGCAGTAGCAGGGACACAGGTGGCACATAGGAGCCTAGAAACAGGAGCTTTATTCTCTAATGTGCGTCCAGCAAGTTCCTTACACAATCAAGGAAATGGTTTCTCTTTCAGGCATCGACTCTTTTATCAAAAGAAAATCCATCCTGCTCAGTCCCACCCACCCTGGGCAGAAGCTGCCCTGAGCAACGCTCTTGGCCTAAAGCTAAAGGATAATGGGAGAGGGGTGGGCACATACCACTGCACCCCTACAATGCCCAGATGCCCCAGGCCTGAGTCAGCCATGAGAAGGCGCAGCACAGAGCAGTCACCCACACACCTACACCTCCCCTCACAGCTCCAGAGCCAGCCTGGGAGGACGTGGAGGGCTGGCGAATGGGGCGTGGGCAGGGTCTGCCAGTCAAGGCCTGTGCTCAGCGTCCATGACATCCAAGTACTTGGCTTCAATGATTCGGGGCAGCAGGATATAGCTGTGGGGAGGGAGGGACAGGAGGATGAGCCTGGGTCAGAGAGAAGGCAGTGGACACCCATCCCAGCCCACCCCAGCCCACCCACAGGGCCAGGCTAGGCCTCTCCTCCCCGCCCGCCTACCCCCAGCCCACCCACTCTCCACTCCTAGACTGGAGCCCCTCCTGCCCACCACCCACCCCAGCCCGCCCACTCTCCACCTCTAGGCTGGGCTCCTCCTGCCCGCCAGCCTCCCCAGCCCGCCCACTCTCCACCCCTAGGCAGGACCCCTCCTCCTGGGCACCCACCCCAACCCGCCCATTCTCCGCCCCTAGGTGGGACCCCTCCTCCCAGCCGCTGCCCCAGCCCGCCCATTCTCCACACCTAGACTGGGCCCCTCCTGCCCACTGCCCACCCGCCTGTACCGGATGGGGATCATGGCGATCATGATGAGGGGAAAGATCATCTTCATGTAGGGCAGGGAGCTCATGCCGAAGGCACACAGCAGCAGCAGCTGAAGCACCTGCAGGCCCGTGAAGTAGTGGATCTTCCTCTGGGGCACCCTCCGGATGTAGTGTGTCGGGGGGTACGCAGTCTGTGGGCGGCAGGGACCGGGTGTGGGCAGGCATGGGGCTGTGTCCCCACCCACGCCACTCCCTCGCAGGGCCAAGCGCTCACCTGCTCCTTGAGCAGCAGGGCCACGCGCTGGACGAGCTGGTTGCCATCGAGGGAGGTGAGCGCGATGTAGAGGAAGAGGCCATAGAGCACGGGCTTGGGGATCCACTGAAGCGGGACCGGCAGCAGCAACAGGGACAGGCCCACCAGGACGCTGGCGCCCAGCGAGGTCAGCCGCGTCTCCTTCACGTTCACAATCCTGCGGTGGCCCGAGCCGCGAGTGTCACCTCTGCGCCCCTGTCCACAGGGCCTCACTCCTCCCTATGTCCCATGTGGCCAGAGGCTCCCCACTCCTCAGGGTCCACGGCTCTTGCCAGCCTCACACTCACGTGTCATAGATGTGTCCGTTCTCCACACGCTCCTCCACTAAGGCCAGGGCTCGCACGTGCAGCGGGGAGTGGGGGTAGGCGGCATGGATCCAAGGCAGCCCAAACAGAGACAGCCCTGTGTTGATGATGGCGAGGAGCAGGAGGTCCCAGTGGTAGGCAGTGCCCTTCACCAGCCTGCAGCAGACGGGCACTCGTGGACAGAGCCCCACAGCAGAGGCCCGGGCCCCGCCCACCCCACCCTCACCCACCCTCCACACCTGTTCTCCGGTGCATTCACCAAGGCGGCCACCAAGTTCTGCTCGATGAAGAAGAGCATGGACAGCAGGAAGCCGAGGCCCATGGCACCGCTGACGGCCCTCAGGGACAGCGACTGGATCTGCGCCATCGCAAAGGGGCTCTCGCTGGGGTTGTAGCGGAACTTGCTCACTGCAGTAGGGGACAGGCTACTGCTATGCCTGCAGCGCCTGGGGAGCTACCCCACGTCACCCACCGCCCGGCCCCAACTCACTCTCGATTTCCCGGAAGCCATGGGAGCTGATGAGGGAGAAGGCGAGCACCGCGATGGGCAGGGCGCAGTCGGACAGGATCTCTCGCACGCAGGGGTGCAGGTAGGGGCTGGGGACAGCAGGTGCATGAGCACAGCCTTTGACCCATGCGGCCCCTCCCCTCCCCATGCAGCCCCTCACCTCTTCTTGAATTGGTAGAGGGTGTAGCCCAGCCAGAGCGTGCCCAGCATGATGAGGAGGCTGAGCACGGCGGTCGCCTGGCCTGAGTGTGTGGCCGAGGGCAGCTCCGTGGGGCTGGCGAGGAAGCTGGCGTTGAGGGCAGTGTGGAGGCTGGCGTTGAGGCTGGCGCCGAGGCCTGACAGGCTGACAAGGGATGAAGTCCTTTTTGTGTGATAGTCGTCCAAGTAATGCCCATAGTAGTACTTCCAGAAGACTGTGGACACACACCCACAGGCCTCAGCCCTCTCCAGCGTGTGGCAGGGGGAGGCCCTGGAGGGAGGGGATCTCAGGGAGAAAGGGCTCCAGGGGGAAGGTGAGGGGACCCTGCCGACGTGCCCATGCACCCACACTCCTGCCCACTGTCCCTGTCCCATCTCTGACACCCCATCACAGTCGGCCCAGTGCCTCTGCCCCCACGGCTGGTCCCACCTGGGGCGGCCCCGTCACCCTCCAGCGTGGAGGGCTCTGCCCTCTGCCAGCCCAAGGCTCCCAGAGCACCGCACCCTTGATCACGGGCACACACTCAGCTTGAGCCAGTCCTATGTGCCCCCAGCCAGGGGCAGTGCAGAACCTCCCATCTCGGCTGAGCGCCCTGTTCAGCAGGTGGCCCCCAGCCGCACTCACTTTTAACCGTGCCCTTGACGGCATCCAGCACAAACGTGATGGAAATGAAGAGGGCGATGATCTCCTCCGTCGACCTGCCAGGAGGCCATGAGCCTCATCAGAGTGGGTGTGGTCAGGGGGCAGGTGGGGGAGGCCTCCCTGAGCCCCTGCACAGTCCCCT
TAGGTTGAATTGAATTGAATTGGTGGGCACCCAGCAGCTGTCCCGTGACAAATCCCTCGCGTGGTCACAGAAGTCTTCTGGGTTGACTGTTGTGCACAGTGAGAGCGGAGGAAAACGTTTTGAGTTGGTTTCTCCACACTCGCTACCCGTCCCCAGACAGCAGGGTGGAGAGCATGCTCATACCCACCTGGATTGGTTCTCGGGGCCCTGGGGGCTCCTGATCTCCCACTCAGCACCAGGCTACCCAGTGTAAGGTGGCGTCTCATGTGGGCTTACGTTTCTCTAATTACCAAGGGGTCTGAGCACCTCTCGCTACTCCTGTTACGGTTGGGCCTCCTTCTTCCCCTGTTCACGGCCTCTGCCTCTTCTGTTGGGGCTGCTGTCCTTTGCTGGTTTGCAGGAATTCTTTGCATATTTCAGATATATTTTCAGTTTTAGATGCAGCCAATCTCTTCTGTCGGCCAACTTAGTCCATGGGGCATGTGTCAAGCCAGTCCAGGAGGTGATGTGAGCCCCAGGTGTTCCTGCTGACCACTGATGCTGCGCACCCGGCACTCCCCTGAGCCTCAGAGCCATATTCCCTGTTGTCGGCTGCCATTGGGAGACCCTGACCCACCAACAAATGAGCAAGCCAGAAACACTGCACCTTCTCCCTCCGTCAAACCATTCCCACCCCGTGTCCTGCCGTCGGCAGTCCTCCCACCTCCCTCCATCGCCACCAGTGCTGCCCCTGCCCTGTAAAATCCAGGATCCGCACAACAGATGGGATGGTTCACAAGTGCTCCACACGAAGCCTCGGCCTCCCGGCAGGCAGCTTTCATCTGAGAGTCACAGGGCCCTTTGCTGTCACCCTGATGGTCCCTCCCGCCCCACTGCTCTTCACCAGCCACAGCGCCTCAGTGGCCCCAAGCCCTCGCTCCTCTGGACCCTTGCACATGCTGTTCCCAGAACGCTTTCCCTGCAGGTCCCTGGAGAAATGGCCATGCGAAGGCCTCCTGGATCTTCCATGTTTCACTGTTGGGCCAGCACCCACTGTGCGACGTTGGAGGTGACAGACCACAGGTGGCACTCCACAAACTCTGTCCCTTGCATTCCACTTCCCCAGGGAGGGCTTCCCCTCCCCAGAGTGGGGGTGGAGTGGCAGTAGCAGGGACACAGGTGGCACATAGGAGCCTAGAAACAGGAGCTTTATTCTCTAATGTGCGTCCAGCAAGTTCCTTACACAATCAAGGAAATGGTTTCTCTTTCAGGCATCGACTCTTTTATCAAAAGAAAATCCATCCTGCTCAGTCCCACCCACCCTGGGCAGAAGCTGCCCTGAGCAACGCTCTTGGCCTAAAGCTAAAGGATAATGGGAGAGGGGTGGGCACATACCACTGCACCCCTACAATGCCCAGATGCCCCAGGCCTGAGTCAGCCATGAGAAGGCGCAGCACAGAGCAGTCACCCACACACCTACACCTCCCCTCACAGCTCCAGAGCCAGCCTGGGAGGACGTGGAGGGCTGGCGAATGGGGCGTGGGCAGGGTCTGCCAGTCAAGGCCTGTGCTCAGCGTCCATGACATCCAAGTACTTGGCTTCAATGATTCGGGGCAGCAGGATATAGCTGTGGGGAGGGAGGGACAGGAGGATGAGCCTGGGTCAGAGAGAAGGCAGTGGACACCCATCCCAGCCCACCCCAGCCCACCCACAGGGCCAGGCTAGGCCTCTCCTCCCCGCCCGCCTACCCCCAGCCCACCCACTCTCCACTCCTAGACTGGAGCCCCTCCTGCCCACCACCCACCCCAGCCCGCCCACTCTCCACCTCTAGGCTGGGCTCCTCCTGCCCGCCAGCCTCCCCAGCCCGCCCACTCTCCACCCCTAGGCAGGACCCCTCCTCCTGGGCACCCACCCCAACCCGCCCATTCTCCGCCCCTAGGTGGGACCCCTCCTCCCAGCCGCTGCCCCAGCCCGCCCATTCTCCACACCTAGACTGGGCCCCTCCTGCCCACTGCCCACCCGCCTGTACCGGATGGGGATCATGGCGATCATGATGAGGGGAAAGATCACCTTCATGTAGGGCAGGGAGCTCATGCCGAAGGCACACAGCAGCAGCAGCTGAAGCACCTGCAGGCCCGTGAAGTAGTGGATCTTCCTCTGGGGCACCCTCCGGATGTAGTGTGTCGGGGGGTACGCAGTCTGTGGGCGGCAGGGACCGGGTGTGGGCAGGCATGGGGCTGTGTCCCCACCCACGCCACTCCCTCGCAGGGCCAAGCGCTCACCTGCTCCTTGAGCAGCAGGGCCACGCGCTGGACGAGCTGGTTGCCATCGAGGGAGGTGAGCGCGATGTAGAGGAAGAGGCCATAGAGCACGGGCTTGGGGATCCACTGAAGCGGGACCGGCAGCAGCAACAGGGACAGGCCCACCAGGACGCTGGCGCCCAGCGAGGTCAGCCGCGTCTCCTTCACGTTCACAATCCTGCGGTGGCCCGAGCCGCGAGTGTCACCTCTGCGCCCCTGTCCACAGGGCCTCACTCCTCCCTATGTCCCATGTGGCCAGAGGCTCCCCACTCCTCAGGGTCCACGGCTCTTGCCAGCCTCACACTCACGTGTCATAGATGTGTCCGTTCTCCACACGCTCCTCCACTAAGGCCAGGGCTCGCACGTGCAGCGGGGAGTGGGGGTAGGCGGCATGGATCCAAGGCAGCCCAAACAGAGACAGCCCTGTGTTGATGATGGCGAGGAGCAGGAGGTCCCAGTGGTAGGCAGTGCCCTTCACCAGCCTGCAGCAGACGGGCACTCGTGGACAGAGCCCCACAGCAGAGGCCCGGGCCCCGCCCACCCCACCCTCACCCACCCTCCACACCTGTTCTCCGGTGCATTCACCAAGGCGGCCACCAAGTTCTGCTCGATGAAGAAGAGCATGGACAGCAGGAAGCCGAGGCCCATGGCACCGCTGACGGCCCTCAGGGACAGCGACTGGATCTGCGCCATCGCAAAGGGGCTCTCGCTGGGGTTGTAGCGGAACTTGCTCACTGCAGTAGGGGACAGGCTACTGCTATGCCTGCAGCGCCTGGGGAGCTACCCCACGTCACCCACCGCCCGGCCCCAACTCACTCTCGATTTCCCGGAAGCCATGGGAGCTGATGAGGGAGAAGGCGAGCACCGCGATGGGCAGGGCGCAGTCGGACAGGATCTCTCGCACGCAGGGGTGCAGGTAGGGGCTGGGGACAGCAGGTGCATGAGCACAGCCTTTGACCCATGCGGCCCCTCCCCTCCCCATGCAGCCCCTCACCTCTTCTTGAATTGGTAGAGGGTGTAGCCCAGCCAGAGCGTGCCCAGCATGATGAGGAGGCTGAGCACGGCGGTCGCCTGGCCTGAGTGTGTGGCCGAGGGCAGCTCCGTGGGGCTGGCGAGGAAGCTGGCGTTGAGGGCAGTGTGGAGGCTGGCGTTGAGGCTGGCGCCGAGGCCTGACAGGCTGACAAGGGATGAAGTCCTTTTTGTGTGATAGTCGTCCAAGTAATGCCCATAGTAGTACTTCCAGAAGACTGTGGACACACACCCACAGGCCTCAGCCCTCTCCAGCGTGTGGCAGGGGGAGGCCCTGGAGGGAGGGGATCTCAGGGAGAAAGGGCTCCAGGGGGAAGGTGAGGGGACCCTGCCGACGTGCCCATGCACCCACACTCCTGCCCACTGTCCCTGTCCCATCTCTGACACCCCATCACAGTCGGCCCAGTGCCTCTGCCCCCACGGCTGGTCCCACCTGGGGCGGCCCCGTCACCCTCCAGCGTGGAGGGCTCTGCCCTCTGCCAGCCCAAGGCTCCCAGAGCACCGCACCCTTGATCACGGGCACACACTCAGCTTGAGCCAGTCCTATGTGCCCCCAGCCAGGGGCAGTGCAGAACCTCCCATCTCGGCTGAGCGCCCTGTTCAGCAGGTGGCCCCCAGCCGCACTCACTTTTAACCGTGCCCTTGACGGCATCCAGCACAAACGTGATGGAAATGAAGAGGGCGATGATCTCCTCCGTCGACCTGCCAGGAGGCCATGAGCCTCATCAGAGTGGGTGTGGTCAGGGGGCAGGTGGGGGAGGCCTCCCTGAGCCCCTGCACAGTCCCCT
Task1_train_27634
A variant was discovered on Chromosome 20, affecting SLC4A11 (solute carrier family 4 member 11). What is its functional impact — neutral or pathogenic? State the disease if pathogenic.
Pathogenic; Congenital hereditary endothelial dystrophy of cornea
TAGGTTGAATTGAATTGAATTGGTGGGCACCCAGCAGCTGTCCCGTGACAAATCCCTCGCGTGGTCACAGAAGTCTTCTGGGTTGACTGTTGTGCACAGTGAGAGCGGAGGAAAACGTTTTGAGTTGGTTTCTCCACACTCGCTACCCGTCCCCAGACAGCAGGGTGGAGAGCATGCTCATACCCACCTGGATTGGTTCTCGGGGCCCTGGGGGCTCCTGATCTCCCACTCAGCACCAGGCTACCCAGTGTAAGGTGGCGTCTCATGTGGGCTTACGTTTCTCTAATTACCAAGGGGTCTGAGCACCTCTCGCTACTCCTGTTACGGTTGGGCCTCCTTCTTCCCCTGTTCACGGCCTCTGCCTCTTCTGTTGGGGCTGCTGTCCTTTGCTGGTTTGCAGGAATTCTTTGCATATTTCAGATATATTTTCAGTTTTAGATGCAGCCAATCTCTTCTGTCGGCCAACTTAGTCCATGGGGCATGTGTCAAGCCAGTCCAGGAGGTGATGTGAGCCCCAGGTGTTCCTGCTGACCACTGATGCTGCGCACCCGGCACTCCCCTGAGCCTCAGAGCCATATTCCCTGTTGTCGGCTGCCATTGGGAGACCCTGACCCACCAACAAATGAGCAAGCCAGAAACACTGCACCTTCTCCCTCCGTCAAACCATTCCCACCCCGTGTCCTGCCGTCGGCAGTCCTCCCACCTCCCTCCATCGCCACCAGTGCTGCCCCTGCCCTGTAAAATCCAGGATCCGCACAACAGATGGGATGGTTCACAAGTGCTCCACACGAAGCCTCGGCCTCCCGGCAGGCAGCTTTCATCTGAGAGTCACAGGGCCCTTTGCTGTCACCCTGATGGTCCCTCCCGCCCCACTGCTCTTCACCAGCCACAGCGCCTCAGTGGCCCCAAGCCCTCGCTCCTCTGGACCCTTGCACATGCTGTTCCCAGAACGCTTTCCCTGCAGGTCCCTGGAGAAATGGCCATGCGAAGGCCTCCTGGATCTTCCATGTTTCACTGTTGGGCCAGCACCCACTGTGCGACGTTGGAGGTGACAGACCACAGGTGGCACTCCACAAACTCTGTCCCTTGCATTCCACTTCCCCAGGGAGGGCTTCCCCTCCCCAGAGTGGGGGTGGAGTGGCAGTAGCAGGGACACAGGTGGCACATAGGAGCCTAGAAACAGGAGCTTTATTCTCTAATGTGCGTCCAGCAAGTTCCTTACACAATCAAGGAAATGGTTTCTCTTTCAGGCATCGACTCTTTTATCAAAAGAAAATCCATCCTGCTCAGTCCCACCCACCCTGGGCAGAAGCTGCCCTGAGCAACGCTCTTGGCCTAAAGCTAAAGGATAATGGGAGAGGGGTGGGCACATACCACTGCACCCCTACAATGCCCAGATGCCCCAGGCCTGAGTCAGCCATGAGAAGGCGCAGCACAGAGCAGTCACCCACACACCTACACCTCCCCTCACAGCTCCAGAGCCAGCCTGGGAGGACGTGGAGGGCTGGCGAATGGGGCGTGGGCAGGGTCTGCCAGTCAAGGCCTGTGCTCAGCGTCCATGACATCCAAGTACTTGGCTTCAATGATTCGGGGCAGCAGGATATAGCTGTGGGGAGGGAGGGACAGGAGGATGAGCCTGGGTCAGAGAGAAGGCAGTGGACACCCATCCCAGCCCACCCCAGCCCACCCACAGGGCCAGGCTAGGCCTCTCCTCCCCGCCCGCCTACCCCCAGCCCACCCACTCTCCACTCCTAGACTGGAGCCCCTCCTGCCCACCACCCACCCCAGCCCGCCCACTCTCCACCTCTAGGCTGGGCTCCTCCTGCCCGCCAGCCTCCCCAGCCCGCCCACTCTCCACCCCTAGGCAGGACCCCTCCTCCTGGGCACCCACCCCAACCCGCCCATTCTCCGCCCCTAGGTGGGACCCCTCCTCCCAGCCGCTGCCCCAGCCCGCCCATTCTCCACACCTAGACTGGGCCCCTCCTGCCCACTGCCCACCCGCCTGTACCGGATGGGGATCATGGCGATCATGATGAGGGGAAAGATCATCTTCATGTAGGGCAGGGAGCTCATGCCGAAGGCACACAGCAGCAGCAGCTGAAGCACCTGCAGGCCCGTGAAGTAGTGGATCTTCCTCTGGGGCACCCTCCGGATGTAGTGTGTCGGGGGGTACGCAGTCTGTGGGCGGCAGGGACCGGGTGTGGGCAGGCATGGGGCTGTGTCCCCACCCACGCCACTCCCTCGCAGGGCCAAGCGCTCACCTGCTCCTTGAGCAGCAGGGCCACGCGCTGGACGAGCTGGTTGCCATCGAGGGAGGTGAGCGCGATGTAGAGGAAGAGGCCATAGAGCACGGGCTTGGGGATCCACTGAAGCGGGACCGGCAGCAGCAACAGGGACAGGCCCACCAGGACGCTGGCGCCCAGCGAGGTCAGCCGCGTCTCCTTCACGTTCACAATCCTGCGGTGGCCCGAGCCGCGAGTGTCACCTCTGCGCCCCTGTCCACAGGGCCTCACTCCTCCCTATGTCCCATGTGGCCAGAGGCTCCCCACTCCTCAGGGTCCACGGCTCTTGCCAGCCTCACACTCACGTGTCATAGATGTGTCCGTTCTCCACACGCTCCTCCACTAAGGCCAGGGCTCGCACGTGCAGCGGGGAGTGGGGGTAGGCGGCATGGATCCAAGGCAGCCCAAACAGAGACAGCCCTGTGTTGATGATGGCGAGGAGCAGGAGGTCCCAGTGGTAGGCAGTGCCCTTCACCAGCCTGCAGCAGACGGGCACTCGTGGACAGAGCCCCACAGCAGAGGCCCGGGCCCCGCCCACCCCACCCTCACCCACCCTCCACACCTGTTCTCCGGTGCATTCACCAAGGCGGCCACCAAGTTCTGCTCGATGAAGAAGAGCATGGACAGCAGGAAGCCGAGGCCCATGGCACCGCTGACGGCCCTCAGGGACAGCGACTGGATCTGCGCCATCGCAAAGGGGCTCTCGCTGGGGTTGTAGCGGAACTTGCTCACTGCAGTAGGGGACAGGCTACTGCTATGCCTGCAGCGCCTGGGGAGCTACCCCACGTCACCCACCGCCCGGCCCCAACTCACTCTCGATTTCCCGGAAGCCATGGGAGCTGATGAGGGAGAAGGCGAGCACCGCGATGGGCAGGGCGCAGTCGGACAGGATCTCTCGCACGCAGGGGTGCAGGTAGGGGCTGGGGACAGCAGGTGCATGAGCACAGCCTTTGACCCATGCGGCCCCTCCCCTCCCCATGCAGCCCCTCACCTCTTCTTGAATTGGTAGAGGGTGTAGCCCAGCCAGAGCGTGCCCAGCATGATGAGGAGGCTGAGCACGGCGGTCGCCTGGCCTGAGTGTGTGGCCGAGGGCAGCTCCGTGGGGCTGGCGAGGAAGCTGGCGTTGAGGGCAGTGTGGAGGCTGGCGTTGAGGCTGGCGCCGAGGCCTGACAGGCTGACAAGGGATGAAGTCCTTTTTGTGTGATAGTCGTCCAAGTAATGCCCATAGTAGTACTTCCAGAAGACTGTGGACACACACCCACAGGCCTCAGCCCTCTCCAGCGTGTGGCAGGGGGAGGCCCTGGAGGGAGGGGATCTCAGGGAGAAAGGGCTCCAGGGGGAAGGTGAGGGGACCCTGCCGACGTGCCCATGCACCCACACTCCTGCCCACTGTCCCTGTCCCATCTCTGACACCCCATCACAGTCGGCCCAGTGCCTCTGCCCCCACGGCTGGTCCCACCTGGGGCGGCCCCGTCACCCTCCAGCGTGGAGGGCTCTGCCCTCTGCCAGCCCAAGGCTCCCAGAGCACCGCACCCTTGATCACGGGCACACACTCAGCTTGAGCCAGTCCTATGTGCCCCCAGCCAGGGGCAGTGCAGAACCTCCCATCTCGGCTGAGCGCCCTGTTCAGCAGGTGGCCCCCAGCCGCACTCACTTTTAACCGTGCCCTTGACGGCATCCAGCACAAACGTGATGGAAATGAAGAGGGCGATGATCTCCTCCGTCGACCTGCCAGGAGGCCATGAGCCTCATCAGAGTGGGTGTGGTCAGGGGGCAGGTGGGGGAGGCCTCCCTGAGCCCCTGCACAGTCCCCT
TAGGTTGAATTGAATTGAATTGGTGGGCACCCAGCAGCTGTCCCGTGACAAATCCCTCGCGTGGTCACAGAAGTCTTCTGGGTTGACTGTTGTGCACAGTGAGAGCGGAGGAAAACGTTTTGAGTTGGTTTCTCCACACTCGCTACCCGTCCCCAGACAGCAGGGTGGAGAGCATGCTCATACCCACCTGGATTGGTTCTCGGGGCCCTGGGGGCTCCTGATCTCCCACTCAGCACCAGGCTACCCAGTGTAAGGTGGCGTCTCATGTGGGCTTACGTTTCTCTAATTACCAAGGGGTCTGAGCACCTCTCGCTACTCCTGTTACGGTTGGGCCTCCTTCTTCCCCTGTTCACGGCCTCTGCCTCTTCTGTTGGGGCTGCTGTCCTTTGCTGGTTTGCAGGAATTCTTTGCATATTTCAGATATATTTTCAGTTTTAGATGCAGCCAATCTCTTCTGTCGGCCAACTTAGTCCATGGGGCATGTGTCAAGCCAGTCCAGGAGGTGATGTGAGCCCCAGGTGTTCCTGCTGACCACTGATGCTGCGCACCCGGCACTCCCCTGAGCCTCAGAGCCATATTCCCTGTTGTCGGCTGCCATTGGGAGACCCTGACCCACCAACAAATGAGCAAGCCAGAAACACTGCACCTTCTCCCTCCGTCAAACCATTCCCACCCCGTGTCCTGCCGTCGGCAGTCCTCCCACCTCCCTCCATCGCCACCAGTGCTGCCCCTGCCCTGTAAAATCCAGGATCCGCACAACAGATGGGATGGTTCACAAGTGCTCCACACGAAGCCTCGGCCTCCCGGCAGGCAGCTTTCATCTGAGAGTCACAGGGCCCTTTGCTGTCACCCTGATGGTCCCTCCCGCCCCACTGCTCTTCACCAGCCACAGCGCCTCAGTGGCCCCAAGCCCTCGCTCCTCTGGACCCTTGCACATGCTGTTCCCAGAACGCTTTCCCTGCAGGTCCCTGGAGAAATGGCCATGCGAAGGCCTCCTGGATCTTCCATGTTTCACTGTTGGGCCAGCACCCACTGTGCGACGTTGGAGGTGACAGACCACAGGTGGCACTCCACAAACTCTGTCCCTTGCATTCCACTTCCCCAGGGAGGGCTTCCCCTCCCCAGAGTGGGGGTGGAGTGGCAGTAGCAGGGACACAGGTGGCACATAGGAGCCTAGAAACAGGAGCTTTATTCTCTAATGTGCGTCCAGCAAGTTCCTTACACAATCAAGGAAATGGTTTCTCTTTCAGGCATCGACTCTTTTATCAAAAGAAAATCCATCCTGCTCAGTCCCACCCACCCTGGGCAGAAGCTGCCCTGAGCAACGCTCTTGGCCTAAAGCTAAAGGATAATGGGAGAGGGGTGGGCACATACCACTGCACCCCTACAATGCCCAGATGCCCCAGGCCTGAGTCAGCCATGAGAAGGCGCAGCACAGAGCAGTCACCCACACACCTACACCTCCCCTCACAGCTCCAGAGCCAGCCTGGGAGGACGTGGAGGGCTGGCGAATGGGGCGTGGGCAGGGTCTGCCAGTCAAGGCCTGTGCTCAGCGTCCATGACATCCAAGTACTTGGCTTCAATGATTCGGGGCAGCAGGATATAGCTGTGGGGAGGGAGGGACAGGAGGATGAGCCTGGGTCAGAGAGAAGGCAGTGGACACCCATCCCAGCCCACCCCAGCCCACCCACAGGGCCAGGCTAGGCCTCTCCTCCCCGCCCGCCTACCCCCAGCCCACCCACTCTCCACTCCTAGACTGGAGCCCCTCCTGCCCACCACCCACCCCAGCCCGCCCACTCTCCACCTCTAGGCTGGGCTCCTCCTGCCCGCCAGCCTCCCCAGCCCGCCCACTCTCCACCCCTAGGCAGGACCCCTCCTCCTGGGCACCCACCCCAACCCGCCCATTCTCCGCCCCTAGGTGGGACCCCTCCTCCCAGCCGCTGCCCCAGCCCGCCCATTCTCCACACCTAGACTGGGCCCCTCCTGCCCACTGCCCACCCGCCTGTACCGGATGGGGATCATGGCGATCATGATGAGGGGAAAGATCACCTTCATGTAGGGCAGGGAGCTCATGCCGAAGGCACACAGCAGCAGCAGCTGAAGCACCTGCAGGCCCGTGAAGTAGTGGATCTTCCTCTGGGGCACCCTCCGGATGTAGTGTGTCGGGGGGTACGCAGTCTGTGGGCGGCAGGGACCGGGTGTGGGCAGGCATGGGGCTGTGTCCCCACCCACGCCACTCCCTCGCAGGGCCAAGCGCTCACCTGCTCCTTGAGCAGCAGGGCCACGCGCTGGACGAGCTGGTTGCCATCGAGGGAGGTGAGCGCGATGTAGAGGAAGAGGCCATAGAGCACGGGCTTGGGGATCCACTGAAGCGGGACCGGCAGCAGCAACAGGGACAGGCCCACCAGGACGCTGGCGCCCAGCGAGGTCAGCCGCGTCTCCTTCACGTTCACAATCCTGCGGTGGCCCGAGCCGCGAGTGTCACCTCTGCGCCCCTGTCCACAGGGCCTCACTCCTCCCTATGTCCCATGTGGCCAGAGGCTCCCCACTCCTCAGGGTCCACGGCTCTTGCCAGCCTCACACTCACGTGTCATAGATGTGTCCGTTCTCCACACGCTCCTCCACTAAGGCCAGGGCTCGCACGTGCAGCGGGGAGTGGGGGTAGGCGGCATGGATCCAAGGCAGCCCAAACAGAGACAGCCCTGTGTTGATGATGGCGAGGAGCAGGAGGTCCCAGTGGTAGGCAGTGCCCTTCACCAGCCTGCAGCAGACGGGCACTCGTGGACAGAGCCCCACAGCAGAGGCCCGGGCCCCGCCCACCCCACCCTCACCCACCCTCCACACCTGTTCTCCGGTGCATTCACCAAGGCGGCCACCAAGTTCTGCTCGATGAAGAAGAGCATGGACAGCAGGAAGCCGAGGCCCATGGCACCGCTGACGGCCCTCAGGGACAGCGACTGGATCTGCGCCATCGCAAAGGGGCTCTCGCTGGGGTTGTAGCGGAACTTGCTCACTGCAGTAGGGGACAGGCTACTGCTATGCCTGCAGCGCCTGGGGAGCTACCCCACGTCACCCACCGCCCGGCCCCAACTCACTCTCGATTTCCCGGAAGCCATGGGAGCTGATGAGGGAGAAGGCGAGCACCGCGATGGGCAGGGCGCAGTCGGACAGGATCTCTCGCACGCAGGGGTGCAGGTAGGGGCTGGGGACAGCAGGTGCATGAGCACAGCCTTTGACCCATGCGGCCCCTCCCCTCCCCATGCAGCCCCTCACCTCTTCTTGAATTGGTAGAGGGTGTAGCCCAGCCAGAGCGTGCCCAGCATGATGAGGAGGCTGAGCACGGCGGTCGCCTGGCCTGAGTGTGTGGCCGAGGGCAGCTCCGTGGGGCTGGCGAGGAAGCTGGCGTTGAGGGCAGTGTGGAGGCTGGCGTTGAGGCTGGCGCCGAGGCCTGACAGGCTGACAAGGGATGAAGTCCTTTTTGTGTGATAGTCGTCCAAGTAATGCCCATAGTAGTACTTCCAGAAGACTGTGGACACACACCCACAGGCCTCAGCCCTCTCCAGCGTGTGGCAGGGGGAGGCCCTGGAGGGAGGGGATCTCAGGGAGAAAGGGCTCCAGGGGGAAGGTGAGGGGACCCTGCCGACGTGCCCATGCACCCACACTCCTGCCCACTGTCCCTGTCCCATCTCTGACACCCCATCACAGTCGGCCCAGTGCCTCTGCCCCCACGGCTGGTCCCACCTGGGGCGGCCCCGTCACCCTCCAGCGTGGAGGGCTCTGCCCTCTGCCAGCCCAAGGCTCCCAGAGCACCGCACCCTTGATCACGGGCACACACTCAGCTTGAGCCAGTCCTATGTGCCCCCAGCCAGGGGCAGTGCAGAACCTCCCATCTCGGCTGAGCGCCCTGTTCAGCAGGTGGCCCCCAGCCGCACTCACTTTTAACCGTGCCCTTGACGGCATCCAGCACAAACGTGATGGAAATGAAGAGGGCGATGATCTCCTCCGTCGACCTGCCAGGAGGCCATGAGCCTCATCAGAGTGGGTGTGGTCAGGGGGCAGGTGGGGGAGGCCTCCCTGAGCCCCTGCACAGTCCCCT
Task1_train_27635
This gene mutation involves SLC4A11 (solute carrier family 4 member 11) on Chromosome 20. Is it associated with any clinical condition, or is it benign?
Pathogenic; not provided
TTTGCTGGTTTGCAGGAATTCTTTGCATATTTCAGATATATTTTCAGTTTTAGATGCAGCCAATCTCTTCTGTCGGCCAACTTAGTCCATGGGGCATGTGTCAAGCCAGTCCAGGAGGTGATGTGAGCCCCAGGTGTTCCTGCTGACCACTGATGCTGCGCACCCGGCACTCCCCTGAGCCTCAGAGCCATATTCCCTGTTGTCGGCTGCCATTGGGAGACCCTGACCCACCAACAAATGAGCAAGCCAGAAACACTGCACCTTCTCCCTCCGTCAAACCATTCCCACCCCGTGTCCTGCCGTCGGCAGTCCTCCCACCTCCCTCCATCGCCACCAGTGCTGCCCCTGCCCTGTAAAATCCAGGATCCGCACAACAGATGGGATGGTTCACAAGTGCTCCACACGAAGCCTCGGCCTCCCGGCAGGCAGCTTTCATCTGAGAGTCACAGGGCCCTTTGCTGTCACCCTGATGGTCCCTCCCGCCCCACTGCTCTTCACCAGCCACAGCGCCTCAGTGGCCCCAAGCCCTCGCTCCTCTGGACCCTTGCACATGCTGTTCCCAGAACGCTTTCCCTGCAGGTCCCTGGAGAAATGGCCATGCGAAGGCCTCCTGGATCTTCCATGTTTCACTGTTGGGCCAGCACCCACTGTGCGACGTTGGAGGTGACAGACCACAGGTGGCACTCCACAAACTCTGTCCCTTGCATTCCACTTCCCCAGGGAGGGCTTCCCCTCCCCAGAGTGGGGGTGGAGTGGCAGTAGCAGGGACACAGGTGGCACATAGGAGCCTAGAAACAGGAGCTTTATTCTCTAATGTGCGTCCAGCAAGTTCCTTACACAATCAAGGAAATGGTTTCTCTTTCAGGCATCGACTCTTTTATCAAAAGAAAATCCATCCTGCTCAGTCCCACCCACCCTGGGCAGAAGCTGCCCTGAGCAACGCTCTTGGCCTAAAGCTAAAGGATAATGGGAGAGGGGTGGGCACATACCACTGCACCCCTACAATGCCCAGATGCCCCAGGCCTGAGTCAGCCATGAGAAGGCGCAGCACAGAGCAGTCACCCACACACCTACACCTCCCCTCACAGCTCCAGAGCCAGCCTGGGAGGACGTGGAGGGCTGGCGAATGGGGCGTGGGCAGGGTCTGCCAGTCAAGGCCTGTGCTCAGCGTCCATGACATCCAAGTACTTGGCTTCAATGATTCGGGGCAGCAGGATATAGCTGTGGGGAGGGAGGGACAGGAGGATGAGCCTGGGTCAGAGAGAAGGCAGTGGACACCCATCCCAGCCCACCCCAGCCCACCCACAGGGCCAGGCTAGGCCTCTCCTCCCCGCCCGCCTACCCCCAGCCCACCCACTCTCCACTCCTAGACTGGAGCCCCTCCTGCCCACCACCCACCCCAGCCCGCCCACTCTCCACCTCTAGGCTGGGCTCCTCCTGCCCGCCAGCCTCCCCAGCCCGCCCACTCTCCACCCCTAGGCAGGACCCCTCCTCCTGGGCACCCACCCCAACCCGCCCATTCTCCGCCCCTAGGTGGGACCCCTCCTCCCAGCCGCTGCCCCAGCCCGCCCATTCTCCACACCTAGACTGGGCCCCTCCTGCCCACTGCCCACCCGCCTGTACCGGATGGGGATCATGGCGATCATGATGAGGGGAAAGATCATCTTCATGTAGGGCAGGGAGCTCATGCCGAAGGCACACAGCAGCAGCAGCTGAAGCACCTGCAGGCCCGTGAAGTAGTGGATCTTCCTCTGGGGCACCCTCCGGATGTAGTGTGTCGGGGGGTACGCAGTCTGTGGGCGGCAGGGACCGGGTGTGGGCAGGCATGGGGCTGTGTCCCCACCCACGCCACTCCCTCGCAGGGCCAAGCGCTCACCTGCTCCTTGAGCAGCAGGGCCACGCGCTGGACGAGCTGGTTGCCATCGAGGGAGGTGAGCGCGATGTAGAGGAAGAGGCCATAGAGCACGGGCTTGGGGATCCACTGAAGCGGGACCGGCAGCAGCAACAGGGACAGGCCCACCAGGACGCTGGCGCCCAGCGAGGTCAGCCGCGTCTCCTTCACGTTCACAATCCTGCGGTGGCCCGAGCCGCGAGTGTCACCTCTGCGCCCCTGTCCACAGGGCCTCACTCCTCCCTATGTCCCATGTGGCCAGAGGCTCCCCACTCCTCAGGGTCCACGGCTCTTGCCAGCCTCACACTCACGTGTCATAGATGTGTCCGTTCTCCACACGCTCCTCCACTAAGGCCAGGGCTCGCACGTGCAGCGGGGAGTGGGGGTAGGCGGCATGGATCCAAGGCAGCCCAAACAGAGACAGCCCTGTGTTGATGATGGCGAGGAGCAGGAGGTCCCAGTGGTAGGCAGTGCCCTTCACCAGCCTGCAGCAGACGGGCACTCGTGGACAGAGCCCCACAGCAGAGGCCCGGGCCCCGCCCACCCCACCCTCACCCACCCTCCACACCTGTTCTCCGGTGCATTCACCAAGGCGGCCACCAAGTTCTGCTCGATGAAGAAGAGCATGGACAGCAGGAAGCCGAGGCCCATGGCACCGCTGACGGCCCTCAGGGACAGCGACTGGATCTGCGCCATCGCAAAGGGGCTCTCGCTGGGGTTGTAGCGGAACTTGCTCACTGCAGTAGGGGACAGGCTACTGCTATGCCTGCAGCGCCTGGGGAGCTACCCCACGTCACCCACCGCCCGGCCCCAACTCACTCTCGATTTCCCGGAAGCCATGGGAGCTGATGAGGGAGAAGGCGAGCACCGCGATGGGCAGGGCGCAGTCGGACAGGATCTCTCGCACGCAGGGGTGCAGGTAGGGGCTGGGGACAGCAGGTGCATGAGCACAGCCTTTGACCCATGCGGCCCCTCCCCTCCCCATGCAGCCCCTCACCTCTTCTTGAATTGGTAGAGGGTGTAGCCCAGCCAGAGCGTGCCCAGCATGATGAGGAGGCTGAGCACGGCGGTCGCCTGGCCTGAGTGTGTGGCCGAGGGCAGCTCCGTGGGGCTGGCGAGGAAGCTGGCGTTGAGGGCAGTGTGGAGGCTGGCGTTGAGGCTGGCGCCGAGGCCTGACAGGCTGACAAGGGATGAAGTCCTTTTTGTGTGATAGTCGTCCAAGTAATGCCCATAGTAGTACTTCCAGAAGACTGTGGACACACACCCACAGGCCTCAGCCCTCTCCAGCGTGTGGCAGGGGGAGGCCCTGGAGGGAGGGGATCTCAGGGAGAAAGGGCTCCAGGGGGAAGGTGAGGGGACCCTGCCGACGTGCCCATGCACCCACACTCCTGCCCACTGTCCCTGTCCCATCTCTGACACCCCATCACAGTCGGCCCAGTGCCTCTGCCCCCACGGCTGGTCCCACCTGGGGCGGCCCCGTCACCCTCCAGCGTGGAGGGCTCTGCCCTCTGCCAGCCCAAGGCTCCCAGAGCACCGCACCCTTGATCACGGGCACACACTCAGCTTGAGCCAGTCCTATGTGCCCCCAGCCAGGGGCAGTGCAGAACCTCCCATCTCGGCTGAGCGCCCTGTTCAGCAGGTGGCCCCCAGCCGCACTCACTTTTAACCGTGCCCTTGACGGCATCCAGCACAAACGTGATGGAAATGAAGAGGGCGATGATCTCCTCCGTCGACCTGCCAGGAGGCCATGAGCCTCATCAGAGTGGGTGTGGTCAGGGGGCAGGTGGGGGAGGCCTCCCTGAGCCCCTGCACAGTCCCCTGCCTCCCCCTGCCAGGAAGAAGGCCAGGGCCCCAGGCCTTGCCTGAGCCCACCCCAGCCCCTTGGGGCAGCAATATGGTGGGGGCACCCCCACCACCCTGGGGTTACAGGGGGCTGAACCAGATCCCAAGCCTTGAGGGTCCCAGCAGCTCACGGAAGGGCCAGTCACCTCTTGAAGAGACTCATGACCAGGCTGAGGTTGAAAAAGGCATAAAGCGCAAGGAAGAAACTATTCCACAGGCCCGTCCATGCGTAGAAGGAGTTGAAGTCCAGGTCATAGTCATCACAGATGACACGAATCACTGCAGGCAGGGGGCAGGGCGGGTCAGGGCCCGGCAGGAACCAGGGGTCTCAGGCACCATCTCCCGCCTCAGCCCCCACTGCAC
TTTGCTGGTTTGCAGGAATTCTTTGCATATTTCAGATATATTTTCAGTTTTAGATGCAGCCAATCTCTTCTGTCGGCCAACTTAGTCCATGGGGCATGTGTCAAGCCAGTCCAGGAGGTGATGTGAGCCCCAGGTGTTCCTGCTGACCACTGATGCTGCGCACCCGGCACTCCCCTGAGCCTCAGAGCCATATTCCCTGTTGTCGGCTGCCATTGGGAGACCCTGACCCACCAACAAATGAGCAAGCCAGAAACACTGCACCTTCTCCCTCCGTCAAACCATTCCCACCCCGTGTCCTGCCGTCGGCAGTCCTCCCACCTCCCTCCATCGCCACCAGTGCTGCCCCTGCCCTGTAAAATCCAGGATCCGCACAACAGATGGGATGGTTCACAAGTGCTCCACACGAAGCCTCGGCCTCCCGGCAGGCAGCTTTCATCTGAGAGTCACAGGGCCCTTTGCTGTCACCCTGATGGTCCCTCCCGCCCCACTGCTCTTCACCAGCCACAGCGCCTCAGTGGCCCCAAGCCCTCGCTCCTCTGGACCCTTGCACATGCTGTTCCCAGAACGCTTTCCCTGCAGGTCCCTGGAGAAATGGCCATGCGAAGGCCTCCTGGATCTTCCATGTTTCACTGTTGGGCCAGCACCCACTGTGCGACGTTGGAGGTGACAGACCACAGGTGGCACTCCACAAACTCTGTCCCTTGCATTCCACTTCCCCAGGGAGGGCTTCCCCTCCCCAGAGTGGGGGTGGAGTGGCAGTAGCAGGGACACAGGTGGCACATAGGAGCCTAGAAACAGGAGCTTTATTCTCTAATGTGCGTCCAGCAAGTTCCTTACACAATCAAGGAAATGGTTTCTCTTTCAGGCATCGACTCTTTTATCAAAAGAAAATCCATCCTGCTCAGTCCCACCCACCCTGGGCAGAAGCTGCCCTGAGCAACGCTCTTGGCCTAAAGCTAAAGGATAATGGGAGAGGGGTGGGCACATACCACTGCACCCCTACAATGCCCAGATGCCCCAGGCCTGAGTCAGCCATGAGAAGGCGCAGCACAGAGCAGTCACCCACACACCTACACCTCCCCTCACAGCTCCAGAGCCAGCCTGGGAGGACGTGGAGGGCTGGCGAATGGGGCGTGGGCAGGGTCTGCCAGTCAAGGCCTGTGCTCAGCGTCCATGACATCCAAGTACTTGGCTTCAATGATTCGGGGCAGCAGGATATAGCTGTGGGGAGGGAGGGACAGGAGGATGAGCCTGGGTCAGAGAGAAGGCAGTGGACACCCATCCCAGCCCACCCCAGCCCACCCACAGGGCCAGGCTAGGCCTCTCCTCCCCGCCCGCCTACCCCCAGCCCACCCACTCTCCACTCCTAGACTGGAGCCCCTCCTGCCCACCACCCACCCCAGCCCGCCCACTCTCCACCTCTAGGCTGGGCTCCTCCTGCCCGCCAGCCTCCCCAGCCCGCCCACTCTCCACCCCTAGGCAGGACCCCTCCTCCTGGGCACCCACCCCAACCCGCCCATTCTCCGCCCCTAGGTGGGACCCCTCCTCCCAGCCGCTGCCCCAGCCCGCCCATTCTCCACACCTAGACTGGGCCCCTCCTGCCCACTGCCCACCCGCCTGTACCGGATGGGGATCATGGCGATCATGATGAGGGGAAAGATCATCTTCATGTAGGGCAGGGAGCTCATGCCGAAGGCACACAGCAGCAGCAGCTGAAGCACCTGCAGGCCCGTGAAGTAGTGGATCTTCCTCTGGGGCACCCTCCGGATGTAGTGTGTCGGGGGGTACGCAGTCTGTGGGCGGCAGGGACCGGGTGTGGGCAGGCATGGGGCTGTGTCCCCACCCACGCCACTCCCTCGCAGGGCCAAGCGCTCACCTGCTCCTTGAGCAGCAGGGCCACGCGCTGGACGAGCTGGTTGCCATCGAGGGAGGTGAGCGCGATGTAGAGGAAGAGGCCATAGAGCACGGGCTTGGGGATCCACTGAAGCGGGACCGGCAGCAGCAACAGGGACAGGCCCACCAGGACGCTGGCGCCCAGCGAGGTCAGCTGCGTCTCCTTCACGTTCACAATCCTGCGGTGGCCCGAGCCGCGAGTGTCACCTCTGCGCCCCTGTCCACAGGGCCTCACTCCTCCCTATGTCCCATGTGGCCAGAGGCTCCCCACTCCTCAGGGTCCACGGCTCTTGCCAGCCTCACACTCACGTGTCATAGATGTGTCCGTTCTCCACACGCTCCTCCACTAAGGCCAGGGCTCGCACGTGCAGCGGGGAGTGGGGGTAGGCGGCATGGATCCAAGGCAGCCCAAACAGAGACAGCCCTGTGTTGATGATGGCGAGGAGCAGGAGGTCCCAGTGGTAGGCAGTGCCCTTCACCAGCCTGCAGCAGACGGGCACTCGTGGACAGAGCCCCACAGCAGAGGCCCGGGCCCCGCCCACCCCACCCTCACCCACCCTCCACACCTGTTCTCCGGTGCATTCACCAAGGCGGCCACCAAGTTCTGCTCGATGAAGAAGAGCATGGACAGCAGGAAGCCGAGGCCCATGGCACCGCTGACGGCCCTCAGGGACAGCGACTGGATCTGCGCCATCGCAAAGGGGCTCTCGCTGGGGTTGTAGCGGAACTTGCTCACTGCAGTAGGGGACAGGCTACTGCTATGCCTGCAGCGCCTGGGGAGCTACCCCACGTCACCCACCGCCCGGCCCCAACTCACTCTCGATTTCCCGGAAGCCATGGGAGCTGATGAGGGAGAAGGCGAGCACCGCGATGGGCAGGGCGCAGTCGGACAGGATCTCTCGCACGCAGGGGTGCAGGTAGGGGCTGGGGACAGCAGGTGCATGAGCACAGCCTTTGACCCATGCGGCCCCTCCCCTCCCCATGCAGCCCCTCACCTCTTCTTGAATTGGTAGAGGGTGTAGCCCAGCCAGAGCGTGCCCAGCATGATGAGGAGGCTGAGCACGGCGGTCGCCTGGCCTGAGTGTGTGGCCGAGGGCAGCTCCGTGGGGCTGGCGAGGAAGCTGGCGTTGAGGGCAGTGTGGAGGCTGGCGTTGAGGCTGGCGCCGAGGCCTGACAGGCTGACAAGGGATGAAGTCCTTTTTGTGTGATAGTCGTCCAAGTAATGCCCATAGTAGTACTTCCAGAAGACTGTGGACACACACCCACAGGCCTCAGCCCTCTCCAGCGTGTGGCAGGGGGAGGCCCTGGAGGGAGGGGATCTCAGGGAGAAAGGGCTCCAGGGGGAAGGTGAGGGGACCCTGCCGACGTGCCCATGCACCCACACTCCTGCCCACTGTCCCTGTCCCATCTCTGACACCCCATCACAGTCGGCCCAGTGCCTCTGCCCCCACGGCTGGTCCCACCTGGGGCGGCCCCGTCACCCTCCAGCGTGGAGGGCTCTGCCCTCTGCCAGCCCAAGGCTCCCAGAGCACCGCACCCTTGATCACGGGCACACACTCAGCTTGAGCCAGTCCTATGTGCCCCCAGCCAGGGGCAGTGCAGAACCTCCCATCTCGGCTGAGCGCCCTGTTCAGCAGGTGGCCCCCAGCCGCACTCACTTTTAACCGTGCCCTTGACGGCATCCAGCACAAACGTGATGGAAATGAAGAGGGCGATGATCTCCTCCGTCGACCTGCCAGGAGGCCATGAGCCTCATCAGAGTGGGTGTGGTCAGGGGGCAGGTGGGGGAGGCCTCCCTGAGCCCCTGCACAGTCCCCTGCCTCCCCCTGCCAGGAAGAAGGCCAGGGCCCCAGGCCTTGCCTGAGCCCACCCCAGCCCCTTGGGGCAGCAATATGGTGGGGGCACCCCCACCACCCTGGGGTTACAGGGGGCTGAACCAGATCCCAAGCCTTGAGGGTCCCAGCAGCTCACGGAAGGGCCAGTCACCTCTTGAAGAGACTCATGACCAGGCTGAGGTTGAAAAAGGCATAAAGCGCAAGGAAGAAACTATTCCACAGGCCCGTCCATGCGTAGAAGGAGTTGAAGTCCAGGTCATAGTCATCACAGATGACACGAATCACTGCAGGCAGGGGGCAGGGCGGGTCAGGGCCCGGCAGGAACCAGGGGTCTCAGGCACCATCTCCCGCCTCAGCCCCCACTGCAC
Task1_train_27636
Given this variant in gene SLC4A11 (solute carrier family 4 member 11) on Chromosome 20, classify it as benign or pathogenic. Include the disorder it may cause if applicable.
Pathogenic; Corneal dystrophy, Fuchs endothelial, 4
TTGCTGGTTTGCAGGAATTCTTTGCATATTTCAGATATATTTTCAGTTTTAGATGCAGCCAATCTCTTCTGTCGGCCAACTTAGTCCATGGGGCATGTGTCAAGCCAGTCCAGGAGGTGATGTGAGCCCCAGGTGTTCCTGCTGACCACTGATGCTGCGCACCCGGCACTCCCCTGAGCCTCAGAGCCATATTCCCTGTTGTCGGCTGCCATTGGGAGACCCTGACCCACCAACAAATGAGCAAGCCAGAAACACTGCACCTTCTCCCTCCGTCAAACCATTCCCACCCCGTGTCCTGCCGTCGGCAGTCCTCCCACCTCCCTCCATCGCCACCAGTGCTGCCCCTGCCCTGTAAAATCCAGGATCCGCACAACAGATGGGATGGTTCACAAGTGCTCCACACGAAGCCTCGGCCTCCCGGCAGGCAGCTTTCATCTGAGAGTCACAGGGCCCTTTGCTGTCACCCTGATGGTCCCTCCCGCCCCACTGCTCTTCACCAGCCACAGCGCCTCAGTGGCCCCAAGCCCTCGCTCCTCTGGACCCTTGCACATGCTGTTCCCAGAACGCTTTCCCTGCAGGTCCCTGGAGAAATGGCCATGCGAAGGCCTCCTGGATCTTCCATGTTTCACTGTTGGGCCAGCACCCACTGTGCGACGTTGGAGGTGACAGACCACAGGTGGCACTCCACAAACTCTGTCCCTTGCATTCCACTTCCCCAGGGAGGGCTTCCCCTCCCCAGAGTGGGGGTGGAGTGGCAGTAGCAGGGACACAGGTGGCACATAGGAGCCTAGAAACAGGAGCTTTATTCTCTAATGTGCGTCCAGCAAGTTCCTTACACAATCAAGGAAATGGTTTCTCTTTCAGGCATCGACTCTTTTATCAAAAGAAAATCCATCCTGCTCAGTCCCACCCACCCTGGGCAGAAGCTGCCCTGAGCAACGCTCTTGGCCTAAAGCTAAAGGATAATGGGAGAGGGGTGGGCACATACCACTGCACCCCTACAATGCCCAGATGCCCCAGGCCTGAGTCAGCCATGAGAAGGCGCAGCACAGAGCAGTCACCCACACACCTACACCTCCCCTCACAGCTCCAGAGCCAGCCTGGGAGGACGTGGAGGGCTGGCGAATGGGGCGTGGGCAGGGTCTGCCAGTCAAGGCCTGTGCTCAGCGTCCATGACATCCAAGTACTTGGCTTCAATGATTCGGGGCAGCAGGATATAGCTGTGGGGAGGGAGGGACAGGAGGATGAGCCTGGGTCAGAGAGAAGGCAGTGGACACCCATCCCAGCCCACCCCAGCCCACCCACAGGGCCAGGCTAGGCCTCTCCTCCCCGCCCGCCTACCCCCAGCCCACCCACTCTCCACTCCTAGACTGGAGCCCCTCCTGCCCACCACCCACCCCAGCCCGCCCACTCTCCACCTCTAGGCTGGGCTCCTCCTGCCCGCCAGCCTCCCCAGCCCGCCCACTCTCCACCCCTAGGCAGGACCCCTCCTCCTGGGCACCCACCCCAACCCGCCCATTCTCCGCCCCTAGGTGGGACCCCTCCTCCCAGCCGCTGCCCCAGCCCGCCCATTCTCCACACCTAGACTGGGCCCCTCCTGCCCACTGCCCACCCGCCTGTACCGGATGGGGATCATGGCGATCATGATGAGGGGAAAGATCATCTTCATGTAGGGCAGGGAGCTCATGCCGAAGGCACACAGCAGCAGCAGCTGAAGCACCTGCAGGCCCGTGAAGTAGTGGATCTTCCTCTGGGGCACCCTCCGGATGTAGTGTGTCGGGGGGTACGCAGTCTGTGGGCGGCAGGGACCGGGTGTGGGCAGGCATGGGGCTGTGTCCCCACCCACGCCACTCCCTCGCAGGGCCAAGCGCTCACCTGCTCCTTGAGCAGCAGGGCCACGCGCTGGACGAGCTGGTTGCCATCGAGGGAGGTGAGCGCGATGTAGAGGAAGAGGCCATAGAGCACGGGCTTGGGGATCCACTGAAGCGGGACCGGCAGCAGCAACAGGGACAGGCCCACCAGGACGCTGGCGCCCAGCGAGGTCAGCCGCGTCTCCTTCACGTTCACAATCCTGCGGTGGCCCGAGCCGCGAGTGTCACCTCTGCGCCCCTGTCCACAGGGCCTCACTCCTCCCTATGTCCCATGTGGCCAGAGGCTCCCCACTCCTCAGGGTCCACGGCTCTTGCCAGCCTCACACTCACGTGTCATAGATGTGTCCGTTCTCCACACGCTCCTCCACTAAGGCCAGGGCTCGCACGTGCAGCGGGGAGTGGGGGTAGGCGGCATGGATCCAAGGCAGCCCAAACAGAGACAGCCCTGTGTTGATGATGGCGAGGAGCAGGAGGTCCCAGTGGTAGGCAGTGCCCTTCACCAGCCTGCAGCAGACGGGCACTCGTGGACAGAGCCCCACAGCAGAGGCCCGGGCCCCGCCCACCCCACCCTCACCCACCCTCCACACCTGTTCTCCGGTGCATTCACCAAGGCGGCCACCAAGTTCTGCTCGATGAAGAAGAGCATGGACAGCAGGAAGCCGAGGCCCATGGCACCGCTGACGGCCCTCAGGGACAGCGACTGGATCTGCGCCATCGCAAAGGGGCTCTCGCTGGGGTTGTAGCGGAACTTGCTCACTGCAGTAGGGGACAGGCTACTGCTATGCCTGCAGCGCCTGGGGAGCTACCCCACGTCACCCACCGCCCGGCCCCAACTCACTCTCGATTTCCCGGAAGCCATGGGAGCTGATGAGGGAGAAGGCGAGCACCGCGATGGGCAGGGCGCAGTCGGACAGGATCTCTCGCACGCAGGGGTGCAGGTAGGGGCTGGGGACAGCAGGTGCATGAGCACAGCCTTTGACCCATGCGGCCCCTCCCCTCCCCATGCAGCCCCTCACCTCTTCTTGAATTGGTAGAGGGTGTAGCCCAGCCAGAGCGTGCCCAGCATGATGAGGAGGCTGAGCACGGCGGTCGCCTGGCCTGAGTGTGTGGCCGAGGGCAGCTCCGTGGGGCTGGCGAGGAAGCTGGCGTTGAGGGCAGTGTGGAGGCTGGCGTTGAGGCTGGCGCCGAGGCCTGACAGGCTGACAAGGGATGAAGTCCTTTTTGTGTGATAGTCGTCCAAGTAATGCCCATAGTAGTACTTCCAGAAGACTGTGGACACACACCCACAGGCCTCAGCCCTCTCCAGCGTGTGGCAGGGGGAGGCCCTGGAGGGAGGGGATCTCAGGGAGAAAGGGCTCCAGGGGGAAGGTGAGGGGACCCTGCCGACGTGCCCATGCACCCACACTCCTGCCCACTGTCCCTGTCCCATCTCTGACACCCCATCACAGTCGGCCCAGTGCCTCTGCCCCCACGGCTGGTCCCACCTGGGGCGGCCCCGTCACCCTCCAGCGTGGAGGGCTCTGCCCTCTGCCAGCCCAAGGCTCCCAGAGCACCGCACCCTTGATCACGGGCACACACTCAGCTTGAGCCAGTCCTATGTGCCCCCAGCCAGGGGCAGTGCAGAACCTCCCATCTCGGCTGAGCGCCCTGTTCAGCAGGTGGCCCCCAGCCGCACTCACTTTTAACCGTGCCCTTGACGGCATCCAGCACAAACGTGATGGAAATGAAGAGGGCGATGATCTCCTCCGTCGACCTGCCAGGAGGCCATGAGCCTCATCAGAGTGGGTGTGGTCAGGGGGCAGGTGGGGGAGGCCTCCCTGAGCCCCTGCACAGTCCCCTGCCTCCCCCTGCCAGGAAGAAGGCCAGGGCCCCAGGCCTTGCCTGAGCCCACCCCAGCCCCTTGGGGCAGCAATATGGTGGGGGCACCCCCACCACCCTGGGGTTACAGGGGGCTGAACCAGATCCCAAGCCTTGAGGGTCCCAGCAGCTCACGGAAGGGCCAGTCACCTCTTGAAGAGACTCATGACCAGGCTGAGGTTGAAAAAGGCATAAAGCGCAAGGAAGAAACTATTCCACAGGCCCGTCCATGCGTAGAAGGAGTTGAAGTCCAGGTCATAGTCATCACAGATGACACGAATCACTGCAGGCAGGGGGCAGGGCGGGTCAGGGCCCGGCAGGAACCAGGGGTCTCAGGCACCATCTCCCGCCTCAGCCCCCACTGCACC
TTGCTGGTTTGCAGGAATTCTTTGCATATTTCAGATATATTTTCAGTTTTAGATGCAGCCAATCTCTTCTGTCGGCCAACTTAGTCCATGGGGCATGTGTCAAGCCAGTCCAGGAGGTGATGTGAGCCCCAGGTGTTCCTGCTGACCACTGATGCTGCGCACCCGGCACTCCCCTGAGCCTCAGAGCCATATTCCCTGTTGTCGGCTGCCATTGGGAGACCCTGACCCACCAACAAATGAGCAAGCCAGAAACACTGCACCTTCTCCCTCCGTCAAACCATTCCCACCCCGTGTCCTGCCGTCGGCAGTCCTCCCACCTCCCTCCATCGCCACCAGTGCTGCCCCTGCCCTGTAAAATCCAGGATCCGCACAACAGATGGGATGGTTCACAAGTGCTCCACACGAAGCCTCGGCCTCCCGGCAGGCAGCTTTCATCTGAGAGTCACAGGGCCCTTTGCTGTCACCCTGATGGTCCCTCCCGCCCCACTGCTCTTCACCAGCCACAGCGCCTCAGTGGCCCCAAGCCCTCGCTCCTCTGGACCCTTGCACATGCTGTTCCCAGAACGCTTTCCCTGCAGGTCCCTGGAGAAATGGCCATGCGAAGGCCTCCTGGATCTTCCATGTTTCACTGTTGGGCCAGCACCCACTGTGCGACGTTGGAGGTGACAGACCACAGGTGGCACTCCACAAACTCTGTCCCTTGCATTCCACTTCCCCAGGGAGGGCTTCCCCTCCCCAGAGTGGGGGTGGAGTGGCAGTAGCAGGGACACAGGTGGCACATAGGAGCCTAGAAACAGGAGCTTTATTCTCTAATGTGCGTCCAGCAAGTTCCTTACACAATCAAGGAAATGGTTTCTCTTTCAGGCATCGACTCTTTTATCAAAAGAAAATCCATCCTGCTCAGTCCCACCCACCCTGGGCAGAAGCTGCCCTGAGCAACGCTCTTGGCCTAAAGCTAAAGGATAATGGGAGAGGGGTGGGCACATACCACTGCACCCCTACAATGCCCAGATGCCCCAGGCCTGAGTCAGCCATGAGAAGGCGCAGCACAGAGCAGTCACCCACACACCTACACCTCCCCTCACAGCTCCAGAGCCAGCCTGGGAGGACGTGGAGGGCTGGCGAATGGGGCGTGGGCAGGGTCTGCCAGTCAAGGCCTGTGCTCAGCGTCCATGACATCCAAGTACTTGGCTTCAATGATTCGGGGCAGCAGGATATAGCTGTGGGGAGGGAGGGACAGGAGGATGAGCCTGGGTCAGAGAGAAGGCAGTGGACACCCATCCCAGCCCACCCCAGCCCACCCACAGGGCCAGGCTAGGCCTCTCCTCCCCGCCCGCCTACCCCCAGCCCACCCACTCTCCACTCCTAGACTGGAGCCCCTCCTGCCCACCACCCACCCCAGCCCGCCCACTCTCCACCTCTAGGCTGGGCTCCTCCTGCCCGCCAGCCTCCCCAGCCCGCCCACTCTCCACCCCTAGGCAGGACCCCTCCTCCTGGGCACCCACCCCAACCCGCCCATTCTCCGCCCCTAGGTGGGACCCCTCCTCCCAGCCGCTGCCCCAGCCCGCCCATTCTCCACACCTAGACTGGGCCCCTCCTGCCCACTGCCCACCCGCCTGTACCGGATGGGGATCATGGCGATCATGATGAGGGGAAAGATCATCTTCATGTAGGGCAGGGAGCTCATGCCGAAGGCACACAGCAGCAGCAGCTGAAGCACCTGCAGGCCCGTGAAGTAGTGGATCTTCCTCTGGGGCACCCTCCGGATGTAGTGTGTCGGGGGGTACGCAGTCTGTGGGCGGCAGGGACCGGGTGTGGGCAGGCATGGGGCTGTGTCCCCACCCACGCCACTCCCTCGCAGGGCCAAGCGCTCACCTGCTCCTTGAGCAGCAGGGCCACGCGCTGGACGAGCTGGTTGCCATCGAGGGAGGTGAGCGCGATGTAGAGGAAGAGGCCATAGAGCACGGGCTTGGGGATCCACTGAAGCGGGACCGGCAGCAGCAACAGGGACAGGCCCACCAGGACGCTGGCGCCCAGCGAGGTCAGCCACGTCTCCTTCACGTTCACAATCCTGCGGTGGCCCGAGCCGCGAGTGTCACCTCTGCGCCCCTGTCCACAGGGCCTCACTCCTCCCTATGTCCCATGTGGCCAGAGGCTCCCCACTCCTCAGGGTCCACGGCTCTTGCCAGCCTCACACTCACGTGTCATAGATGTGTCCGTTCTCCACACGCTCCTCCACTAAGGCCAGGGCTCGCACGTGCAGCGGGGAGTGGGGGTAGGCGGCATGGATCCAAGGCAGCCCAAACAGAGACAGCCCTGTGTTGATGATGGCGAGGAGCAGGAGGTCCCAGTGGTAGGCAGTGCCCTTCACCAGCCTGCAGCAGACGGGCACTCGTGGACAGAGCCCCACAGCAGAGGCCCGGGCCCCGCCCACCCCACCCTCACCCACCCTCCACACCTGTTCTCCGGTGCATTCACCAAGGCGGCCACCAAGTTCTGCTCGATGAAGAAGAGCATGGACAGCAGGAAGCCGAGGCCCATGGCACCGCTGACGGCCCTCAGGGACAGCGACTGGATCTGCGCCATCGCAAAGGGGCTCTCGCTGGGGTTGTAGCGGAACTTGCTCACTGCAGTAGGGGACAGGCTACTGCTATGCCTGCAGCGCCTGGGGAGCTACCCCACGTCACCCACCGCCCGGCCCCAACTCACTCTCGATTTCCCGGAAGCCATGGGAGCTGATGAGGGAGAAGGCGAGCACCGCGATGGGCAGGGCGCAGTCGGACAGGATCTCTCGCACGCAGGGGTGCAGGTAGGGGCTGGGGACAGCAGGTGCATGAGCACAGCCTTTGACCCATGCGGCCCCTCCCCTCCCCATGCAGCCCCTCACCTCTTCTTGAATTGGTAGAGGGTGTAGCCCAGCCAGAGCGTGCCCAGCATGATGAGGAGGCTGAGCACGGCGGTCGCCTGGCCTGAGTGTGTGGCCGAGGGCAGCTCCGTGGGGCTGGCGAGGAAGCTGGCGTTGAGGGCAGTGTGGAGGCTGGCGTTGAGGCTGGCGCCGAGGCCTGACAGGCTGACAAGGGATGAAGTCCTTTTTGTGTGATAGTCGTCCAAGTAATGCCCATAGTAGTACTTCCAGAAGACTGTGGACACACACCCACAGGCCTCAGCCCTCTCCAGCGTGTGGCAGGGGGAGGCCCTGGAGGGAGGGGATCTCAGGGAGAAAGGGCTCCAGGGGGAAGGTGAGGGGACCCTGCCGACGTGCCCATGCACCCACACTCCTGCCCACTGTCCCTGTCCCATCTCTGACACCCCATCACAGTCGGCCCAGTGCCTCTGCCCCCACGGCTGGTCCCACCTGGGGCGGCCCCGTCACCCTCCAGCGTGGAGGGCTCTGCCCTCTGCCAGCCCAAGGCTCCCAGAGCACCGCACCCTTGATCACGGGCACACACTCAGCTTGAGCCAGTCCTATGTGCCCCCAGCCAGGGGCAGTGCAGAACCTCCCATCTCGGCTGAGCGCCCTGTTCAGCAGGTGGCCCCCAGCCGCACTCACTTTTAACCGTGCCCTTGACGGCATCCAGCACAAACGTGATGGAAATGAAGAGGGCGATGATCTCCTCCGTCGACCTGCCAGGAGGCCATGAGCCTCATCAGAGTGGGTGTGGTCAGGGGGCAGGTGGGGGAGGCCTCCCTGAGCCCCTGCACAGTCCCCTGCCTCCCCCTGCCAGGAAGAAGGCCAGGGCCCCAGGCCTTGCCTGAGCCCACCCCAGCCCCTTGGGGCAGCAATATGGTGGGGGCACCCCCACCACCCTGGGGTTACAGGGGGCTGAACCAGATCCCAAGCCTTGAGGGTCCCAGCAGCTCACGGAAGGGCCAGTCACCTCTTGAAGAGACTCATGACCAGGCTGAGGTTGAAAAAGGCATAAAGCGCAAGGAAGAAACTATTCCACAGGCCCGTCCATGCGTAGAAGGAGTTGAAGTCCAGGTCATAGTCATCACAGATGACACGAATCACTGCAGGCAGGGGGCAGGGCGGGTCAGGGCCCGGCAGGAACCAGGGGTCTCAGGCACCATCTCCCGCCTCAGCCCCCACTGCACC
Task1_train_27637
Here is a genetic alteration in SLC4A11 (solute carrier family 4 member 11) on Chromosome 20. Based on the data, is it a benign variant or a cause of disease?
Pathogenic; Congenital hereditary endothelial dystrophy of cornea
TTGCTGGTTTGCAGGAATTCTTTGCATATTTCAGATATATTTTCAGTTTTAGATGCAGCCAATCTCTTCTGTCGGCCAACTTAGTCCATGGGGCATGTGTCAAGCCAGTCCAGGAGGTGATGTGAGCCCCAGGTGTTCCTGCTGACCACTGATGCTGCGCACCCGGCACTCCCCTGAGCCTCAGAGCCATATTCCCTGTTGTCGGCTGCCATTGGGAGACCCTGACCCACCAACAAATGAGCAAGCCAGAAACACTGCACCTTCTCCCTCCGTCAAACCATTCCCACCCCGTGTCCTGCCGTCGGCAGTCCTCCCACCTCCCTCCATCGCCACCAGTGCTGCCCCTGCCCTGTAAAATCCAGGATCCGCACAACAGATGGGATGGTTCACAAGTGCTCCACACGAAGCCTCGGCCTCCCGGCAGGCAGCTTTCATCTGAGAGTCACAGGGCCCTTTGCTGTCACCCTGATGGTCCCTCCCGCCCCACTGCTCTTCACCAGCCACAGCGCCTCAGTGGCCCCAAGCCCTCGCTCCTCTGGACCCTTGCACATGCTGTTCCCAGAACGCTTTCCCTGCAGGTCCCTGGAGAAATGGCCATGCGAAGGCCTCCTGGATCTTCCATGTTTCACTGTTGGGCCAGCACCCACTGTGCGACGTTGGAGGTGACAGACCACAGGTGGCACTCCACAAACTCTGTCCCTTGCATTCCACTTCCCCAGGGAGGGCTTCCCCTCCCCAGAGTGGGGGTGGAGTGGCAGTAGCAGGGACACAGGTGGCACATAGGAGCCTAGAAACAGGAGCTTTATTCTCTAATGTGCGTCCAGCAAGTTCCTTACACAATCAAGGAAATGGTTTCTCTTTCAGGCATCGACTCTTTTATCAAAAGAAAATCCATCCTGCTCAGTCCCACCCACCCTGGGCAGAAGCTGCCCTGAGCAACGCTCTTGGCCTAAAGCTAAAGGATAATGGGAGAGGGGTGGGCACATACCACTGCACCCCTACAATGCCCAGATGCCCCAGGCCTGAGTCAGCCATGAGAAGGCGCAGCACAGAGCAGTCACCCACACACCTACACCTCCCCTCACAGCTCCAGAGCCAGCCTGGGAGGACGTGGAGGGCTGGCGAATGGGGCGTGGGCAGGGTCTGCCAGTCAAGGCCTGTGCTCAGCGTCCATGACATCCAAGTACTTGGCTTCAATGATTCGGGGCAGCAGGATATAGCTGTGGGGAGGGAGGGACAGGAGGATGAGCCTGGGTCAGAGAGAAGGCAGTGGACACCCATCCCAGCCCACCCCAGCCCACCCACAGGGCCAGGCTAGGCCTCTCCTCCCCGCCCGCCTACCCCCAGCCCACCCACTCTCCACTCCTAGACTGGAGCCCCTCCTGCCCACCACCCACCCCAGCCCGCCCACTCTCCACCTCTAGGCTGGGCTCCTCCTGCCCGCCAGCCTCCCCAGCCCGCCCACTCTCCACCCCTAGGCAGGACCCCTCCTCCTGGGCACCCACCCCAACCCGCCCATTCTCCGCCCCTAGGTGGGACCCCTCCTCCCAGCCGCTGCCCCAGCCCGCCCATTCTCCACACCTAGACTGGGCCCCTCCTGCCCACTGCCCACCCGCCTGTACCGGATGGGGATCATGGCGATCATGATGAGGGGAAAGATCATCTTCATGTAGGGCAGGGAGCTCATGCCGAAGGCACACAGCAGCAGCAGCTGAAGCACCTGCAGGCCCGTGAAGTAGTGGATCTTCCTCTGGGGCACCCTCCGGATGTAGTGTGTCGGGGGGTACGCAGTCTGTGGGCGGCAGGGACCGGGTGTGGGCAGGCATGGGGCTGTGTCCCCACCCACGCCACTCCCTCGCAGGGCCAAGCGCTCACCTGCTCCTTGAGCAGCAGGGCCACGCGCTGGACGAGCTGGTTGCCATCGAGGGAGGTGAGCGCGATGTAGAGGAAGAGGCCATAGAGCACGGGCTTGGGGATCCACTGAAGCGGGACCGGCAGCAGCAACAGGGACAGGCCCACCAGGACGCTGGCGCCCAGCGAGGTCAGCCGCGTCTCCTTCACGTTCACAATCCTGCGGTGGCCCGAGCCGCGAGTGTCACCTCTGCGCCCCTGTCCACAGGGCCTCACTCCTCCCTATGTCCCATGTGGCCAGAGGCTCCCCACTCCTCAGGGTCCACGGCTCTTGCCAGCCTCACACTCACGTGTCATAGATGTGTCCGTTCTCCACACGCTCCTCCACTAAGGCCAGGGCTCGCACGTGCAGCGGGGAGTGGGGGTAGGCGGCATGGATCCAAGGCAGCCCAAACAGAGACAGCCCTGTGTTGATGATGGCGAGGAGCAGGAGGTCCCAGTGGTAGGCAGTGCCCTTCACCAGCCTGCAGCAGACGGGCACTCGTGGACAGAGCCCCACAGCAGAGGCCCGGGCCCCGCCCACCCCACCCTCACCCACCCTCCACACCTGTTCTCCGGTGCATTCACCAAGGCGGCCACCAAGTTCTGCTCGATGAAGAAGAGCATGGACAGCAGGAAGCCGAGGCCCATGGCACCGCTGACGGCCCTCAGGGACAGCGACTGGATCTGCGCCATCGCAAAGGGGCTCTCGCTGGGGTTGTAGCGGAACTTGCTCACTGCAGTAGGGGACAGGCTACTGCTATGCCTGCAGCGCCTGGGGAGCTACCCCACGTCACCCACCGCCCGGCCCCAACTCACTCTCGATTTCCCGGAAGCCATGGGAGCTGATGAGGGAGAAGGCGAGCACCGCGATGGGCAGGGCGCAGTCGGACAGGATCTCTCGCACGCAGGGGTGCAGGTAGGGGCTGGGGACAGCAGGTGCATGAGCACAGCCTTTGACCCATGCGGCCCCTCCCCTCCCCATGCAGCCCCTCACCTCTTCTTGAATTGGTAGAGGGTGTAGCCCAGCCAGAGCGTGCCCAGCATGATGAGGAGGCTGAGCACGGCGGTCGCCTGGCCTGAGTGTGTGGCCGAGGGCAGCTCCGTGGGGCTGGCGAGGAAGCTGGCGTTGAGGGCAGTGTGGAGGCTGGCGTTGAGGCTGGCGCCGAGGCCTGACAGGCTGACAAGGGATGAAGTCCTTTTTGTGTGATAGTCGTCCAAGTAATGCCCATAGTAGTACTTCCAGAAGACTGTGGACACACACCCACAGGCCTCAGCCCTCTCCAGCGTGTGGCAGGGGGAGGCCCTGGAGGGAGGGGATCTCAGGGAGAAAGGGCTCCAGGGGGAAGGTGAGGGGACCCTGCCGACGTGCCCATGCACCCACACTCCTGCCCACTGTCCCTGTCCCATCTCTGACACCCCATCACAGTCGGCCCAGTGCCTCTGCCCCCACGGCTGGTCCCACCTGGGGCGGCCCCGTCACCCTCCAGCGTGGAGGGCTCTGCCCTCTGCCAGCCCAAGGCTCCCAGAGCACCGCACCCTTGATCACGGGCACACACTCAGCTTGAGCCAGTCCTATGTGCCCCCAGCCAGGGGCAGTGCAGAACCTCCCATCTCGGCTGAGCGCCCTGTTCAGCAGGTGGCCCCCAGCCGCACTCACTTTTAACCGTGCCCTTGACGGCATCCAGCACAAACGTGATGGAAATGAAGAGGGCGATGATCTCCTCCGTCGACCTGCCAGGAGGCCATGAGCCTCATCAGAGTGGGTGTGGTCAGGGGGCAGGTGGGGGAGGCCTCCCTGAGCCCCTGCACAGTCCCCTGCCTCCCCCTGCCAGGAAGAAGGCCAGGGCCCCAGGCCTTGCCTGAGCCCACCCCAGCCCCTTGGGGCAGCAATATGGTGGGGGCACCCCCACCACCCTGGGGTTACAGGGGGCTGAACCAGATCCCAAGCCTTGAGGGTCCCAGCAGCTCACGGAAGGGCCAGTCACCTCTTGAAGAGACTCATGACCAGGCTGAGGTTGAAAAAGGCATAAAGCGCAAGGAAGAAACTATTCCACAGGCCCGTCCATGCGTAGAAGGAGTTGAAGTCCAGGTCATAGTCATCACAGATGACACGAATCACTGCAGGCAGGGGGCAGGGCGGGTCAGGGCCCGGCAGGAACCAGGGGTCTCAGGCACCATCTCCCGCCTCAGCCCCCACTGCACC
TTGCTGGTTTGCAGGAATTCTTTGCATATTTCAGATATATTTTCAGTTTTAGATGCAGCCAATCTCTTCTGTCGGCCAACTTAGTCCATGGGGCATGTGTCAAGCCAGTCCAGGAGGTGATGTGAGCCCCAGGTGTTCCTGCTGACCACTGATGCTGCGCACCCGGCACTCCCCTGAGCCTCAGAGCCATATTCCCTGTTGTCGGCTGCCATTGGGAGACCCTGACCCACCAACAAATGAGCAAGCCAGAAACACTGCACCTTCTCCCTCCGTCAAACCATTCCCACCCCGTGTCCTGCCGTCGGCAGTCCTCCCACCTCCCTCCATCGCCACCAGTGCTGCCCCTGCCCTGTAAAATCCAGGATCCGCACAACAGATGGGATGGTTCACAAGTGCTCCACACGAAGCCTCGGCCTCCCGGCAGGCAGCTTTCATCTGAGAGTCACAGGGCCCTTTGCTGTCACCCTGATGGTCCCTCCCGCCCCACTGCTCTTCACCAGCCACAGCGCCTCAGTGGCCCCAAGCCCTCGCTCCTCTGGACCCTTGCACATGCTGTTCCCAGAACGCTTTCCCTGCAGGTCCCTGGAGAAATGGCCATGCGAAGGCCTCCTGGATCTTCCATGTTTCACTGTTGGGCCAGCACCCACTGTGCGACGTTGGAGGTGACAGACCACAGGTGGCACTCCACAAACTCTGTCCCTTGCATTCCACTTCCCCAGGGAGGGCTTCCCCTCCCCAGAGTGGGGGTGGAGTGGCAGTAGCAGGGACACAGGTGGCACATAGGAGCCTAGAAACAGGAGCTTTATTCTCTAATGTGCGTCCAGCAAGTTCCTTACACAATCAAGGAAATGGTTTCTCTTTCAGGCATCGACTCTTTTATCAAAAGAAAATCCATCCTGCTCAGTCCCACCCACCCTGGGCAGAAGCTGCCCTGAGCAACGCTCTTGGCCTAAAGCTAAAGGATAATGGGAGAGGGGTGGGCACATACCACTGCACCCCTACAATGCCCAGATGCCCCAGGCCTGAGTCAGCCATGAGAAGGCGCAGCACAGAGCAGTCACCCACACACCTACACCTCCCCTCACAGCTCCAGAGCCAGCCTGGGAGGACGTGGAGGGCTGGCGAATGGGGCGTGGGCAGGGTCTGCCAGTCAAGGCCTGTGCTCAGCGTCCATGACATCCAAGTACTTGGCTTCAATGATTCGGGGCAGCAGGATATAGCTGTGGGGAGGGAGGGACAGGAGGATGAGCCTGGGTCAGAGAGAAGGCAGTGGACACCCATCCCAGCCCACCCCAGCCCACCCACAGGGCCAGGCTAGGCCTCTCCTCCCCGCCCGCCTACCCCCAGCCCACCCACTCTCCACTCCTAGACTGGAGCCCCTCCTGCCCACCACCCACCCCAGCCCGCCCACTCTCCACCTCTAGGCTGGGCTCCTCCTGCCCGCCAGCCTCCCCAGCCCGCCCACTCTCCACCCCTAGGCAGGACCCCTCCTCCTGGGCACCCACCCCAACCCGCCCATTCTCCGCCCCTAGGTGGGACCCCTCCTCCCAGCCGCTGCCCCAGCCCGCCCATTCTCCACACCTAGACTGGGCCCCTCCTGCCCACTGCCCACCCGCCTGTACCGGATGGGGATCATGGCGATCATGATGAGGGGAAAGATCATCTTCATGTAGGGCAGGGAGCTCATGCCGAAGGCACACAGCAGCAGCAGCTGAAGCACCTGCAGGCCCGTGAAGTAGTGGATCTTCCTCTGGGGCACCCTCCGGATGTAGTGTGTCGGGGGGTACGCAGTCTGTGGGCGGCAGGGACCGGGTGTGGGCAGGCATGGGGCTGTGTCCCCACCCACGCCACTCCCTCGCAGGGCCAAGCGCTCACCTGCTCCTTGAGCAGCAGGGCCACGCGCTGGACGAGCTGGTTGCCATCGAGGGAGGTGAGCGCGATGTAGAGGAAGAGGCCATAGAGCACGGGCTTGGGGATCCACTGAAGCGGGACCGGCAGCAGCAACAGGGACAGGCCCACCAGGACGCTGGCGCCCAGCGAGGTCAGCCACGTCTCCTTCACGTTCACAATCCTGCGGTGGCCCGAGCCGCGAGTGTCACCTCTGCGCCCCTGTCCACAGGGCCTCACTCCTCCCTATGTCCCATGTGGCCAGAGGCTCCCCACTCCTCAGGGTCCACGGCTCTTGCCAGCCTCACACTCACGTGTCATAGATGTGTCCGTTCTCCACACGCTCCTCCACTAAGGCCAGGGCTCGCACGTGCAGCGGGGAGTGGGGGTAGGCGGCATGGATCCAAGGCAGCCCAAACAGAGACAGCCCTGTGTTGATGATGGCGAGGAGCAGGAGGTCCCAGTGGTAGGCAGTGCCCTTCACCAGCCTGCAGCAGACGGGCACTCGTGGACAGAGCCCCACAGCAGAGGCCCGGGCCCCGCCCACCCCACCCTCACCCACCCTCCACACCTGTTCTCCGGTGCATTCACCAAGGCGGCCACCAAGTTCTGCTCGATGAAGAAGAGCATGGACAGCAGGAAGCCGAGGCCCATGGCACCGCTGACGGCCCTCAGGGACAGCGACTGGATCTGCGCCATCGCAAAGGGGCTCTCGCTGGGGTTGTAGCGGAACTTGCTCACTGCAGTAGGGGACAGGCTACTGCTATGCCTGCAGCGCCTGGGGAGCTACCCCACGTCACCCACCGCCCGGCCCCAACTCACTCTCGATTTCCCGGAAGCCATGGGAGCTGATGAGGGAGAAGGCGAGCACCGCGATGGGCAGGGCGCAGTCGGACAGGATCTCTCGCACGCAGGGGTGCAGGTAGGGGCTGGGGACAGCAGGTGCATGAGCACAGCCTTTGACCCATGCGGCCCCTCCCCTCCCCATGCAGCCCCTCACCTCTTCTTGAATTGGTAGAGGGTGTAGCCCAGCCAGAGCGTGCCCAGCATGATGAGGAGGCTGAGCACGGCGGTCGCCTGGCCTGAGTGTGTGGCCGAGGGCAGCTCCGTGGGGCTGGCGAGGAAGCTGGCGTTGAGGGCAGTGTGGAGGCTGGCGTTGAGGCTGGCGCCGAGGCCTGACAGGCTGACAAGGGATGAAGTCCTTTTTGTGTGATAGTCGTCCAAGTAATGCCCATAGTAGTACTTCCAGAAGACTGTGGACACACACCCACAGGCCTCAGCCCTCTCCAGCGTGTGGCAGGGGGAGGCCCTGGAGGGAGGGGATCTCAGGGAGAAAGGGCTCCAGGGGGAAGGTGAGGGGACCCTGCCGACGTGCCCATGCACCCACACTCCTGCCCACTGTCCCTGTCCCATCTCTGACACCCCATCACAGTCGGCCCAGTGCCTCTGCCCCCACGGCTGGTCCCACCTGGGGCGGCCCCGTCACCCTCCAGCGTGGAGGGCTCTGCCCTCTGCCAGCCCAAGGCTCCCAGAGCACCGCACCCTTGATCACGGGCACACACTCAGCTTGAGCCAGTCCTATGTGCCCCCAGCCAGGGGCAGTGCAGAACCTCCCATCTCGGCTGAGCGCCCTGTTCAGCAGGTGGCCCCCAGCCGCACTCACTTTTAACCGTGCCCTTGACGGCATCCAGCACAAACGTGATGGAAATGAAGAGGGCGATGATCTCCTCCGTCGACCTGCCAGGAGGCCATGAGCCTCATCAGAGTGGGTGTGGTCAGGGGGCAGGTGGGGGAGGCCTCCCTGAGCCCCTGCACAGTCCCCTGCCTCCCCCTGCCAGGAAGAAGGCCAGGGCCCCAGGCCTTGCCTGAGCCCACCCCAGCCCCTTGGGGCAGCAATATGGTGGGGGCACCCCCACCACCCTGGGGTTACAGGGGGCTGAACCAGATCCCAAGCCTTGAGGGTCCCAGCAGCTCACGGAAGGGCCAGTCACCTCTTGAAGAGACTCATGACCAGGCTGAGGTTGAAAAAGGCATAAAGCGCAAGGAAGAAACTATTCCACAGGCCCGTCCATGCGTAGAAGGAGTTGAAGTCCAGGTCATAGTCATCACAGATGACACGAATCACTGCAGGCAGGGGGCAGGGCGGGTCAGGGCCCGGCAGGAACCAGGGGTCTCAGGCACCATCTCCCGCCTCAGCCCCCACTGCACC
Task1_train_27638
Gene SLC4A11 (solute carrier family 4 member 11) on Chromosome 20 is altered by this variant. Does this mutation result in a disease or is it benign?
Pathogenic; Corneal dystrophy-perceptive deafness syndrome
TTGCTGGTTTGCAGGAATTCTTTGCATATTTCAGATATATTTTCAGTTTTAGATGCAGCCAATCTCTTCTGTCGGCCAACTTAGTCCATGGGGCATGTGTCAAGCCAGTCCAGGAGGTGATGTGAGCCCCAGGTGTTCCTGCTGACCACTGATGCTGCGCACCCGGCACTCCCCTGAGCCTCAGAGCCATATTCCCTGTTGTCGGCTGCCATTGGGAGACCCTGACCCACCAACAAATGAGCAAGCCAGAAACACTGCACCTTCTCCCTCCGTCAAACCATTCCCACCCCGTGTCCTGCCGTCGGCAGTCCTCCCACCTCCCTCCATCGCCACCAGTGCTGCCCCTGCCCTGTAAAATCCAGGATCCGCACAACAGATGGGATGGTTCACAAGTGCTCCACACGAAGCCTCGGCCTCCCGGCAGGCAGCTTTCATCTGAGAGTCACAGGGCCCTTTGCTGTCACCCTGATGGTCCCTCCCGCCCCACTGCTCTTCACCAGCCACAGCGCCTCAGTGGCCCCAAGCCCTCGCTCCTCTGGACCCTTGCACATGCTGTTCCCAGAACGCTTTCCCTGCAGGTCCCTGGAGAAATGGCCATGCGAAGGCCTCCTGGATCTTCCATGTTTCACTGTTGGGCCAGCACCCACTGTGCGACGTTGGAGGTGACAGACCACAGGTGGCACTCCACAAACTCTGTCCCTTGCATTCCACTTCCCCAGGGAGGGCTTCCCCTCCCCAGAGTGGGGGTGGAGTGGCAGTAGCAGGGACACAGGTGGCACATAGGAGCCTAGAAACAGGAGCTTTATTCTCTAATGTGCGTCCAGCAAGTTCCTTACACAATCAAGGAAATGGTTTCTCTTTCAGGCATCGACTCTTTTATCAAAAGAAAATCCATCCTGCTCAGTCCCACCCACCCTGGGCAGAAGCTGCCCTGAGCAACGCTCTTGGCCTAAAGCTAAAGGATAATGGGAGAGGGGTGGGCACATACCACTGCACCCCTACAATGCCCAGATGCCCCAGGCCTGAGTCAGCCATGAGAAGGCGCAGCACAGAGCAGTCACCCACACACCTACACCTCCCCTCACAGCTCCAGAGCCAGCCTGGGAGGACGTGGAGGGCTGGCGAATGGGGCGTGGGCAGGGTCTGCCAGTCAAGGCCTGTGCTCAGCGTCCATGACATCCAAGTACTTGGCTTCAATGATTCGGGGCAGCAGGATATAGCTGTGGGGAGGGAGGGACAGGAGGATGAGCCTGGGTCAGAGAGAAGGCAGTGGACACCCATCCCAGCCCACCCCAGCCCACCCACAGGGCCAGGCTAGGCCTCTCCTCCCCGCCCGCCTACCCCCAGCCCACCCACTCTCCACTCCTAGACTGGAGCCCCTCCTGCCCACCACCCACCCCAGCCCGCCCACTCTCCACCTCTAGGCTGGGCTCCTCCTGCCCGCCAGCCTCCCCAGCCCGCCCACTCTCCACCCCTAGGCAGGACCCCTCCTCCTGGGCACCCACCCCAACCCGCCCATTCTCCGCCCCTAGGTGGGACCCCTCCTCCCAGCCGCTGCCCCAGCCCGCCCATTCTCCACACCTAGACTGGGCCCCTCCTGCCCACTGCCCACCCGCCTGTACCGGATGGGGATCATGGCGATCATGATGAGGGGAAAGATCATCTTCATGTAGGGCAGGGAGCTCATGCCGAAGGCACACAGCAGCAGCAGCTGAAGCACCTGCAGGCCCGTGAAGTAGTGGATCTTCCTCTGGGGCACCCTCCGGATGTAGTGTGTCGGGGGGTACGCAGTCTGTGGGCGGCAGGGACCGGGTGTGGGCAGGCATGGGGCTGTGTCCCCACCCACGCCACTCCCTCGCAGGGCCAAGCGCTCACCTGCTCCTTGAGCAGCAGGGCCACGCGCTGGACGAGCTGGTTGCCATCGAGGGAGGTGAGCGCGATGTAGAGGAAGAGGCCATAGAGCACGGGCTTGGGGATCCACTGAAGCGGGACCGGCAGCAGCAACAGGGACAGGCCCACCAGGACGCTGGCGCCCAGCGAGGTCAGCCGCGTCTCCTTCACGTTCACAATCCTGCGGTGGCCCGAGCCGCGAGTGTCACCTCTGCGCCCCTGTCCACAGGGCCTCACTCCTCCCTATGTCCCATGTGGCCAGAGGCTCCCCACTCCTCAGGGTCCACGGCTCTTGCCAGCCTCACACTCACGTGTCATAGATGTGTCCGTTCTCCACACGCTCCTCCACTAAGGCCAGGGCTCGCACGTGCAGCGGGGAGTGGGGGTAGGCGGCATGGATCCAAGGCAGCCCAAACAGAGACAGCCCTGTGTTGATGATGGCGAGGAGCAGGAGGTCCCAGTGGTAGGCAGTGCCCTTCACCAGCCTGCAGCAGACGGGCACTCGTGGACAGAGCCCCACAGCAGAGGCCCGGGCCCCGCCCACCCCACCCTCACCCACCCTCCACACCTGTTCTCCGGTGCATTCACCAAGGCGGCCACCAAGTTCTGCTCGATGAAGAAGAGCATGGACAGCAGGAAGCCGAGGCCCATGGCACCGCTGACGGCCCTCAGGGACAGCGACTGGATCTGCGCCATCGCAAAGGGGCTCTCGCTGGGGTTGTAGCGGAACTTGCTCACTGCAGTAGGGGACAGGCTACTGCTATGCCTGCAGCGCCTGGGGAGCTACCCCACGTCACCCACCGCCCGGCCCCAACTCACTCTCGATTTCCCGGAAGCCATGGGAGCTGATGAGGGAGAAGGCGAGCACCGCGATGGGCAGGGCGCAGTCGGACAGGATCTCTCGCACGCAGGGGTGCAGGTAGGGGCTGGGGACAGCAGGTGCATGAGCACAGCCTTTGACCCATGCGGCCCCTCCCCTCCCCATGCAGCCCCTCACCTCTTCTTGAATTGGTAGAGGGTGTAGCCCAGCCAGAGCGTGCCCAGCATGATGAGGAGGCTGAGCACGGCGGTCGCCTGGCCTGAGTGTGTGGCCGAGGGCAGCTCCGTGGGGCTGGCGAGGAAGCTGGCGTTGAGGGCAGTGTGGAGGCTGGCGTTGAGGCTGGCGCCGAGGCCTGACAGGCTGACAAGGGATGAAGTCCTTTTTGTGTGATAGTCGTCCAAGTAATGCCCATAGTAGTACTTCCAGAAGACTGTGGACACACACCCACAGGCCTCAGCCCTCTCCAGCGTGTGGCAGGGGGAGGCCCTGGAGGGAGGGGATCTCAGGGAGAAAGGGCTCCAGGGGGAAGGTGAGGGGACCCTGCCGACGTGCCCATGCACCCACACTCCTGCCCACTGTCCCTGTCCCATCTCTGACACCCCATCACAGTCGGCCCAGTGCCTCTGCCCCCACGGCTGGTCCCACCTGGGGCGGCCCCGTCACCCTCCAGCGTGGAGGGCTCTGCCCTCTGCCAGCCCAAGGCTCCCAGAGCACCGCACCCTTGATCACGGGCACACACTCAGCTTGAGCCAGTCCTATGTGCCCCCAGCCAGGGGCAGTGCAGAACCTCCCATCTCGGCTGAGCGCCCTGTTCAGCAGGTGGCCCCCAGCCGCACTCACTTTTAACCGTGCCCTTGACGGCATCCAGCACAAACGTGATGGAAATGAAGAGGGCGATGATCTCCTCCGTCGACCTGCCAGGAGGCCATGAGCCTCATCAGAGTGGGTGTGGTCAGGGGGCAGGTGGGGGAGGCCTCCCTGAGCCCCTGCACAGTCCCCTGCCTCCCCCTGCCAGGAAGAAGGCCAGGGCCCCAGGCCTTGCCTGAGCCCACCCCAGCCCCTTGGGGCAGCAATATGGTGGGGGCACCCCCACCACCCTGGGGTTACAGGGGGCTGAACCAGATCCCAAGCCTTGAGGGTCCCAGCAGCTCACGGAAGGGCCAGTCACCTCTTGAAGAGACTCATGACCAGGCTGAGGTTGAAAAAGGCATAAAGCGCAAGGAAGAAACTATTCCACAGGCCCGTCCATGCGTAGAAGGAGTTGAAGTCCAGGTCATAGTCATCACAGATGACACGAATCACTGCAGGCAGGGGGCAGGGCGGGTCAGGGCCCGGCAGGAACCAGGGGTCTCAGGCACCATCTCCCGCCTCAGCCCCCACTGCACC
TTGCTGGTTTGCAGGAATTCTTTGCATATTTCAGATATATTTTCAGTTTTAGATGCAGCCAATCTCTTCTGTCGGCCAACTTAGTCCATGGGGCATGTGTCAAGCCAGTCCAGGAGGTGATGTGAGCCCCAGGTGTTCCTGCTGACCACTGATGCTGCGCACCCGGCACTCCCCTGAGCCTCAGAGCCATATTCCCTGTTGTCGGCTGCCATTGGGAGACCCTGACCCACCAACAAATGAGCAAGCCAGAAACACTGCACCTTCTCCCTCCGTCAAACCATTCCCACCCCGTGTCCTGCCGTCGGCAGTCCTCCCACCTCCCTCCATCGCCACCAGTGCTGCCCCTGCCCTGTAAAATCCAGGATCCGCACAACAGATGGGATGGTTCACAAGTGCTCCACACGAAGCCTCGGCCTCCCGGCAGGCAGCTTTCATCTGAGAGTCACAGGGCCCTTTGCTGTCACCCTGATGGTCCCTCCCGCCCCACTGCTCTTCACCAGCCACAGCGCCTCAGTGGCCCCAAGCCCTCGCTCCTCTGGACCCTTGCACATGCTGTTCCCAGAACGCTTTCCCTGCAGGTCCCTGGAGAAATGGCCATGCGAAGGCCTCCTGGATCTTCCATGTTTCACTGTTGGGCCAGCACCCACTGTGCGACGTTGGAGGTGACAGACCACAGGTGGCACTCCACAAACTCTGTCCCTTGCATTCCACTTCCCCAGGGAGGGCTTCCCCTCCCCAGAGTGGGGGTGGAGTGGCAGTAGCAGGGACACAGGTGGCACATAGGAGCCTAGAAACAGGAGCTTTATTCTCTAATGTGCGTCCAGCAAGTTCCTTACACAATCAAGGAAATGGTTTCTCTTTCAGGCATCGACTCTTTTATCAAAAGAAAATCCATCCTGCTCAGTCCCACCCACCCTGGGCAGAAGCTGCCCTGAGCAACGCTCTTGGCCTAAAGCTAAAGGATAATGGGAGAGGGGTGGGCACATACCACTGCACCCCTACAATGCCCAGATGCCCCAGGCCTGAGTCAGCCATGAGAAGGCGCAGCACAGAGCAGTCACCCACACACCTACACCTCCCCTCACAGCTCCAGAGCCAGCCTGGGAGGACGTGGAGGGCTGGCGAATGGGGCGTGGGCAGGGTCTGCCAGTCAAGGCCTGTGCTCAGCGTCCATGACATCCAAGTACTTGGCTTCAATGATTCGGGGCAGCAGGATATAGCTGTGGGGAGGGAGGGACAGGAGGATGAGCCTGGGTCAGAGAGAAGGCAGTGGACACCCATCCCAGCCCACCCCAGCCCACCCACAGGGCCAGGCTAGGCCTCTCCTCCCCGCCCGCCTACCCCCAGCCCACCCACTCTCCACTCCTAGACTGGAGCCCCTCCTGCCCACCACCCACCCCAGCCCGCCCACTCTCCACCTCTAGGCTGGGCTCCTCCTGCCCGCCAGCCTCCCCAGCCCGCCCACTCTCCACCCCTAGGCAGGACCCCTCCTCCTGGGCACCCACCCCAACCCGCCCATTCTCCGCCCCTAGGTGGGACCCCTCCTCCCAGCCGCTGCCCCAGCCCGCCCATTCTCCACACCTAGACTGGGCCCCTCCTGCCCACTGCCCACCCGCCTGTACCGGATGGGGATCATGGCGATCATGATGAGGGGAAAGATCATCTTCATGTAGGGCAGGGAGCTCATGCCGAAGGCACACAGCAGCAGCAGCTGAAGCACCTGCAGGCCCGTGAAGTAGTGGATCTTCCTCTGGGGCACCCTCCGGATGTAGTGTGTCGGGGGGTACGCAGTCTGTGGGCGGCAGGGACCGGGTGTGGGCAGGCATGGGGCTGTGTCCCCACCCACGCCACTCCCTCGCAGGGCCAAGCGCTCACCTGCTCCTTGAGCAGCAGGGCCACGCGCTGGACGAGCTGGTTGCCATCGAGGGAGGTGAGCGCGATGTAGAGGAAGAGGCCATAGAGCACGGGCTTGGGGATCCACTGAAGCGGGACCGGCAGCAGCAACAGGGACAGGCCCACCAGGACGCTGGCGCCCAGCGAGGTCAGCCACGTCTCCTTCACGTTCACAATCCTGCGGTGGCCCGAGCCGCGAGTGTCACCTCTGCGCCCCTGTCCACAGGGCCTCACTCCTCCCTATGTCCCATGTGGCCAGAGGCTCCCCACTCCTCAGGGTCCACGGCTCTTGCCAGCCTCACACTCACGTGTCATAGATGTGTCCGTTCTCCACACGCTCCTCCACTAAGGCCAGGGCTCGCACGTGCAGCGGGGAGTGGGGGTAGGCGGCATGGATCCAAGGCAGCCCAAACAGAGACAGCCCTGTGTTGATGATGGCGAGGAGCAGGAGGTCCCAGTGGTAGGCAGTGCCCTTCACCAGCCTGCAGCAGACGGGCACTCGTGGACAGAGCCCCACAGCAGAGGCCCGGGCCCCGCCCACCCCACCCTCACCCACCCTCCACACCTGTTCTCCGGTGCATTCACCAAGGCGGCCACCAAGTTCTGCTCGATGAAGAAGAGCATGGACAGCAGGAAGCCGAGGCCCATGGCACCGCTGACGGCCCTCAGGGACAGCGACTGGATCTGCGCCATCGCAAAGGGGCTCTCGCTGGGGTTGTAGCGGAACTTGCTCACTGCAGTAGGGGACAGGCTACTGCTATGCCTGCAGCGCCTGGGGAGCTACCCCACGTCACCCACCGCCCGGCCCCAACTCACTCTCGATTTCCCGGAAGCCATGGGAGCTGATGAGGGAGAAGGCGAGCACCGCGATGGGCAGGGCGCAGTCGGACAGGATCTCTCGCACGCAGGGGTGCAGGTAGGGGCTGGGGACAGCAGGTGCATGAGCACAGCCTTTGACCCATGCGGCCCCTCCCCTCCCCATGCAGCCCCTCACCTCTTCTTGAATTGGTAGAGGGTGTAGCCCAGCCAGAGCGTGCCCAGCATGATGAGGAGGCTGAGCACGGCGGTCGCCTGGCCTGAGTGTGTGGCCGAGGGCAGCTCCGTGGGGCTGGCGAGGAAGCTGGCGTTGAGGGCAGTGTGGAGGCTGGCGTTGAGGCTGGCGCCGAGGCCTGACAGGCTGACAAGGGATGAAGTCCTTTTTGTGTGATAGTCGTCCAAGTAATGCCCATAGTAGTACTTCCAGAAGACTGTGGACACACACCCACAGGCCTCAGCCCTCTCCAGCGTGTGGCAGGGGGAGGCCCTGGAGGGAGGGGATCTCAGGGAGAAAGGGCTCCAGGGGGAAGGTGAGGGGACCCTGCCGACGTGCCCATGCACCCACACTCCTGCCCACTGTCCCTGTCCCATCTCTGACACCCCATCACAGTCGGCCCAGTGCCTCTGCCCCCACGGCTGGTCCCACCTGGGGCGGCCCCGTCACCCTCCAGCGTGGAGGGCTCTGCCCTCTGCCAGCCCAAGGCTCCCAGAGCACCGCACCCTTGATCACGGGCACACACTCAGCTTGAGCCAGTCCTATGTGCCCCCAGCCAGGGGCAGTGCAGAACCTCCCATCTCGGCTGAGCGCCCTGTTCAGCAGGTGGCCCCCAGCCGCACTCACTTTTAACCGTGCCCTTGACGGCATCCAGCACAAACGTGATGGAAATGAAGAGGGCGATGATCTCCTCCGTCGACCTGCCAGGAGGCCATGAGCCTCATCAGAGTGGGTGTGGTCAGGGGGCAGGTGGGGGAGGCCTCCCTGAGCCCCTGCACAGTCCCCTGCCTCCCCCTGCCAGGAAGAAGGCCAGGGCCCCAGGCCTTGCCTGAGCCCACCCCAGCCCCTTGGGGCAGCAATATGGTGGGGGCACCCCCACCACCCTGGGGTTACAGGGGGCTGAACCAGATCCCAAGCCTTGAGGGTCCCAGCAGCTCACGGAAGGGCCAGTCACCTCTTGAAGAGACTCATGACCAGGCTGAGGTTGAAAAAGGCATAAAGCGCAAGGAAGAAACTATTCCACAGGCCCGTCCATGCGTAGAAGGAGTTGAAGTCCAGGTCATAGTCATCACAGATGACACGAATCACTGCAGGCAGGGGGCAGGGCGGGTCAGGGCCCGGCAGGAACCAGGGGTCTCAGGCACCATCTCCCGCCTCAGCCCCCACTGCACC
Task1_train_27639
Assess the clinical impact of this variant on gene SLC4A11 (solute carrier family 4 member 11), found on Chromosome 20. State whether it’s pathogenic or benign, and the disease if applicable.
Pathogenic; Congenital hereditary endothelial dystrophy of cornea
TTGCTGGTTTGCAGGAATTCTTTGCATATTTCAGATATATTTTCAGTTTTAGATGCAGCCAATCTCTTCTGTCGGCCAACTTAGTCCATGGGGCATGTGTCAAGCCAGTCCAGGAGGTGATGTGAGCCCCAGGTGTTCCTGCTGACCACTGATGCTGCGCACCCGGCACTCCCCTGAGCCTCAGAGCCATATTCCCTGTTGTCGGCTGCCATTGGGAGACCCTGACCCACCAACAAATGAGCAAGCCAGAAACACTGCACCTTCTCCCTCCGTCAAACCATTCCCACCCCGTGTCCTGCCGTCGGCAGTCCTCCCACCTCCCTCCATCGCCACCAGTGCTGCCCCTGCCCTGTAAAATCCAGGATCCGCACAACAGATGGGATGGTTCACAAGTGCTCCACACGAAGCCTCGGCCTCCCGGCAGGCAGCTTTCATCTGAGAGTCACAGGGCCCTTTGCTGTCACCCTGATGGTCCCTCCCGCCCCACTGCTCTTCACCAGCCACAGCGCCTCAGTGGCCCCAAGCCCTCGCTCCTCTGGACCCTTGCACATGCTGTTCCCAGAACGCTTTCCCTGCAGGTCCCTGGAGAAATGGCCATGCGAAGGCCTCCTGGATCTTCCATGTTTCACTGTTGGGCCAGCACCCACTGTGCGACGTTGGAGGTGACAGACCACAGGTGGCACTCCACAAACTCTGTCCCTTGCATTCCACTTCCCCAGGGAGGGCTTCCCCTCCCCAGAGTGGGGGTGGAGTGGCAGTAGCAGGGACACAGGTGGCACATAGGAGCCTAGAAACAGGAGCTTTATTCTCTAATGTGCGTCCAGCAAGTTCCTTACACAATCAAGGAAATGGTTTCTCTTTCAGGCATCGACTCTTTTATCAAAAGAAAATCCATCCTGCTCAGTCCCACCCACCCTGGGCAGAAGCTGCCCTGAGCAACGCTCTTGGCCTAAAGCTAAAGGATAATGGGAGAGGGGTGGGCACATACCACTGCACCCCTACAATGCCCAGATGCCCCAGGCCTGAGTCAGCCATGAGAAGGCGCAGCACAGAGCAGTCACCCACACACCTACACCTCCCCTCACAGCTCCAGAGCCAGCCTGGGAGGACGTGGAGGGCTGGCGAATGGGGCGTGGGCAGGGTCTGCCAGTCAAGGCCTGTGCTCAGCGTCCATGACATCCAAGTACTTGGCTTCAATGATTCGGGGCAGCAGGATATAGCTGTGGGGAGGGAGGGACAGGAGGATGAGCCTGGGTCAGAGAGAAGGCAGTGGACACCCATCCCAGCCCACCCCAGCCCACCCACAGGGCCAGGCTAGGCCTCTCCTCCCCGCCCGCCTACCCCCAGCCCACCCACTCTCCACTCCTAGACTGGAGCCCCTCCTGCCCACCACCCACCCCAGCCCGCCCACTCTCCACCTCTAGGCTGGGCTCCTCCTGCCCGCCAGCCTCCCCAGCCCGCCCACTCTCCACCCCTAGGCAGGACCCCTCCTCCTGGGCACCCACCCCAACCCGCCCATTCTCCGCCCCTAGGTGGGACCCCTCCTCCCAGCCGCTGCCCCAGCCCGCCCATTCTCCACACCTAGACTGGGCCCCTCCTGCCCACTGCCCACCCGCCTGTACCGGATGGGGATCATGGCGATCATGATGAGGGGAAAGATCATCTTCATGTAGGGCAGGGAGCTCATGCCGAAGGCACACAGCAGCAGCAGCTGAAGCACCTGCAGGCCCGTGAAGTAGTGGATCTTCCTCTGGGGCACCCTCCGGATGTAGTGTGTCGGGGGGTACGCAGTCTGTGGGCGGCAGGGACCGGGTGTGGGCAGGCATGGGGCTGTGTCCCCACCCACGCCACTCCCTCGCAGGGCCAAGCGCTCACCTGCTCCTTGAGCAGCAGGGCCACGCGCTGGACGAGCTGGTTGCCATCGAGGGAGGTGAGCGCGATGTAGAGGAAGAGGCCATAGAGCACGGGCTTGGGGATCCACTGAAGCGGGACCGGCAGCAGCAACAGGGACAGGCCCACCAGGACGCTGGCGCCCAGCGAGGTCAGCCGCGTCTCCTTCACGTTCACAATCCTGCGGTGGCCCGAGCCGCGAGTGTCACCTCTGCGCCCCTGTCCACAGGGCCTCACTCCTCCCTATGTCCCATGTGGCCAGAGGCTCCCCACTCCTCAGGGTCCACGGCTCTTGCCAGCCTCACACTCACGTGTCATAGATGTGTCCGTTCTCCACACGCTCCTCCACTAAGGCCAGGGCTCGCACGTGCAGCGGGGAGTGGGGGTAGGCGGCATGGATCCAAGGCAGCCCAAACAGAGACAGCCCTGTGTTGATGATGGCGAGGAGCAGGAGGTCCCAGTGGTAGGCAGTGCCCTTCACCAGCCTGCAGCAGACGGGCACTCGTGGACAGAGCCCCACAGCAGAGGCCCGGGCCCCGCCCACCCCACCCTCACCCACCCTCCACACCTGTTCTCCGGTGCATTCACCAAGGCGGCCACCAAGTTCTGCTCGATGAAGAAGAGCATGGACAGCAGGAAGCCGAGGCCCATGGCACCGCTGACGGCCCTCAGGGACAGCGACTGGATCTGCGCCATCGCAAAGGGGCTCTCGCTGGGGTTGTAGCGGAACTTGCTCACTGCAGTAGGGGACAGGCTACTGCTATGCCTGCAGCGCCTGGGGAGCTACCCCACGTCACCCACCGCCCGGCCCCAACTCACTCTCGATTTCCCGGAAGCCATGGGAGCTGATGAGGGAGAAGGCGAGCACCGCGATGGGCAGGGCGCAGTCGGACAGGATCTCTCGCACGCAGGGGTGCAGGTAGGGGCTGGGGACAGCAGGTGCATGAGCACAGCCTTTGACCCATGCGGCCCCTCCCCTCCCCATGCAGCCCCTCACCTCTTCTTGAATTGGTAGAGGGTGTAGCCCAGCCAGAGCGTGCCCAGCATGATGAGGAGGCTGAGCACGGCGGTCGCCTGGCCTGAGTGTGTGGCCGAGGGCAGCTCCGTGGGGCTGGCGAGGAAGCTGGCGTTGAGGGCAGTGTGGAGGCTGGCGTTGAGGCTGGCGCCGAGGCCTGACAGGCTGACAAGGGATGAAGTCCTTTTTGTGTGATAGTCGTCCAAGTAATGCCCATAGTAGTACTTCCAGAAGACTGTGGACACACACCCACAGGCCTCAGCCCTCTCCAGCGTGTGGCAGGGGGAGGCCCTGGAGGGAGGGGATCTCAGGGAGAAAGGGCTCCAGGGGGAAGGTGAGGGGACCCTGCCGACGTGCCCATGCACCCACACTCCTGCCCACTGTCCCTGTCCCATCTCTGACACCCCATCACAGTCGGCCCAGTGCCTCTGCCCCCACGGCTGGTCCCACCTGGGGCGGCCCCGTCACCCTCCAGCGTGGAGGGCTCTGCCCTCTGCCAGCCCAAGGCTCCCAGAGCACCGCACCCTTGATCACGGGCACACACTCAGCTTGAGCCAGTCCTATGTGCCCCCAGCCAGGGGCAGTGCAGAACCTCCCATCTCGGCTGAGCGCCCTGTTCAGCAGGTGGCCCCCAGCCGCACTCACTTTTAACCGTGCCCTTGACGGCATCCAGCACAAACGTGATGGAAATGAAGAGGGCGATGATCTCCTCCGTCGACCTGCCAGGAGGCCATGAGCCTCATCAGAGTGGGTGTGGTCAGGGGGCAGGTGGGGGAGGCCTCCCTGAGCCCCTGCACAGTCCCCTGCCTCCCCCTGCCAGGAAGAAGGCCAGGGCCCCAGGCCTTGCCTGAGCCCACCCCAGCCCCTTGGGGCAGCAATATGGTGGGGGCACCCCCACCACCCTGGGGTTACAGGGGGCTGAACCAGATCCCAAGCCTTGAGGGTCCCAGCAGCTCACGGAAGGGCCAGTCACCTCTTGAAGAGACTCATGACCAGGCTGAGGTTGAAAAAGGCATAAAGCGCAAGGAAGAAACTATTCCACAGGCCCGTCCATGCGTAGAAGGAGTTGAAGTCCAGGTCATAGTCATCACAGATGACACGAATCACTGCAGGCAGGGGGCAGGGCGGGTCAGGGCCCGGCAGGAACCAGGGGTCTCAGGCACCATCTCCCGCCTCAGCCCCCACTGCACC
TTGCTGGTTTGCAGGAATTCTTTGCATATTTCAGATATATTTTCAGTTTTAGATGCAGCCAATCTCTTCTGTCGGCCAACTTAGTCCATGGGGCATGTGTCAAGCCAGTCCAGGAGGTGATGTGAGCCCCAGGTGTTCCTGCTGACCACTGATGCTGCGCACCCGGCACTCCCCTGAGCCTCAGAGCCATATTCCCTGTTGTCGGCTGCCATTGGGAGACCCTGACCCACCAACAAATGAGCAAGCCAGAAACACTGCACCTTCTCCCTCCGTCAAACCATTCCCACCCCGTGTCCTGCCGTCGGCAGTCCTCCCACCTCCCTCCATCGCCACCAGTGCTGCCCCTGCCCTGTAAAATCCAGGATCCGCACAACAGATGGGATGGTTCACAAGTGCTCCACACGAAGCCTCGGCCTCCCGGCAGGCAGCTTTCATCTGAGAGTCACAGGGCCCTTTGCTGTCACCCTGATGGTCCCTCCCGCCCCACTGCTCTTCACCAGCCACAGCGCCTCAGTGGCCCCAAGCCCTCGCTCCTCTGGACCCTTGCACATGCTGTTCCCAGAACGCTTTCCCTGCAGGTCCCTGGAGAAATGGCCATGCGAAGGCCTCCTGGATCTTCCATGTTTCACTGTTGGGCCAGCACCCACTGTGCGACGTTGGAGGTGACAGACCACAGGTGGCACTCCACAAACTCTGTCCCTTGCATTCCACTTCCCCAGGGAGGGCTTCCCCTCCCCAGAGTGGGGGTGGAGTGGCAGTAGCAGGGACACAGGTGGCACATAGGAGCCTAGAAACAGGAGCTTTATTCTCTAATGTGCGTCCAGCAAGTTCCTTACACAATCAAGGAAATGGTTTCTCTTTCAGGCATCGACTCTTTTATCAAAAGAAAATCCATCCTGCTCAGTCCCACCCACCCTGGGCAGAAGCTGCCCTGAGCAACGCTCTTGGCCTAAAGCTAAAGGATAATGGGAGAGGGGTGGGCACATACCACTGCACCCCTACAATGCCCAGATGCCCCAGGCCTGAGTCAGCCATGAGAAGGCGCAGCACAGAGCAGTCACCCACACACCTACACCTCCCCTCACAGCTCCAGAGCCAGCCTGGGAGGACGTGGAGGGCTGGCGAATGGGGCGTGGGCAGGGTCTGCCAGTCAAGGCCTGTGCTCAGCGTCCATGACATCCAAGTACTTGGCTTCAATGATTCGGGGCAGCAGGATATAGCTGTGGGGAGGGAGGGACAGGAGGATGAGCCTGGGTCAGAGAGAAGGCAGTGGACACCCATCCCAGCCCACCCCAGCCCACCCACAGGGCCAGGCTAGGCCTCTCCTCCCCGCCCGCCTACCCCCAGCCCACCCACTCTCCACTCCTAGACTGGAGCCCCTCCTGCCCACCACCCACCCCAGCCCGCCCACTCTCCACCTCTAGGCTGGGCTCCTCCTGCCCGCCAGCCTCCCCAGCCCGCCCACTCTCCACCCCTAGGCAGGACCCCTCCTCCTGGGCACCCACCCCAACCCGCCCATTCTCCGCCCCTAGGTGGGACCCCTCCTCCCAGCCGCTGCCCCAGCCCGCCCATTCTCCACACCTAGACTGGGCCCCTCCTGCCCACTGCCCACCCGCCTGTACCGGATGGGGATCATGGCGATCATGATGAGGGGAAAGATCATCTTCATGTAGGGCAGGGAGCTCATGCCGAAGGCACACAGCAGCAGCAGCTGAAGCACCTGCAGGCCCGTGAAGTAGTGGATCTTCCTCTGGGGCACCCTCCGGATGTAGTGTGTCGGGGGGTACGCAGTCTGTGGGCGGCAGGGACCGGGTGTGGGCAGGCATGGGGCTGTGTCCCCACCCACGCCACTCCCTCGCAGGGCCAAGCGCTCACCTGCTCCTTGAGCAGCAGGGCCACGCGCTGGACGAGCTGGTTGCCATCGAGGGAGGTGAGCGCGATGTAGAGGAAGAGGCCATAGAGCACGGGCTTGGGGATCCACTGAAGCGGGACCGGCAGCAGCAACAGGGACAGGCCCACCAGGACGCTGGCGCCCAGCGAGGTCAGCCACGTCTCCTTCACGTTCACAATCCTGCGGTGGCCCGAGCCGCGAGTGTCACCTCTGCGCCCCTGTCCACAGGGCCTCACTCCTCCCTATGTCCCATGTGGCCAGAGGCTCCCCACTCCTCAGGGTCCACGGCTCTTGCCAGCCTCACACTCACGTGTCATAGATGTGTCCGTTCTCCACACGCTCCTCCACTAAGGCCAGGGCTCGCACGTGCAGCGGGGAGTGGGGGTAGGCGGCATGGATCCAAGGCAGCCCAAACAGAGACAGCCCTGTGTTGATGATGGCGAGGAGCAGGAGGTCCCAGTGGTAGGCAGTGCCCTTCACCAGCCTGCAGCAGACGGGCACTCGTGGACAGAGCCCCACAGCAGAGGCCCGGGCCCCGCCCACCCCACCCTCACCCACCCTCCACACCTGTTCTCCGGTGCATTCACCAAGGCGGCCACCAAGTTCTGCTCGATGAAGAAGAGCATGGACAGCAGGAAGCCGAGGCCCATGGCACCGCTGACGGCCCTCAGGGACAGCGACTGGATCTGCGCCATCGCAAAGGGGCTCTCGCTGGGGTTGTAGCGGAACTTGCTCACTGCAGTAGGGGACAGGCTACTGCTATGCCTGCAGCGCCTGGGGAGCTACCCCACGTCACCCACCGCCCGGCCCCAACTCACTCTCGATTTCCCGGAAGCCATGGGAGCTGATGAGGGAGAAGGCGAGCACCGCGATGGGCAGGGCGCAGTCGGACAGGATCTCTCGCACGCAGGGGTGCAGGTAGGGGCTGGGGACAGCAGGTGCATGAGCACAGCCTTTGACCCATGCGGCCCCTCCCCTCCCCATGCAGCCCCTCACCTCTTCTTGAATTGGTAGAGGGTGTAGCCCAGCCAGAGCGTGCCCAGCATGATGAGGAGGCTGAGCACGGCGGTCGCCTGGCCTGAGTGTGTGGCCGAGGGCAGCTCCGTGGGGCTGGCGAGGAAGCTGGCGTTGAGGGCAGTGTGGAGGCTGGCGTTGAGGCTGGCGCCGAGGCCTGACAGGCTGACAAGGGATGAAGTCCTTTTTGTGTGATAGTCGTCCAAGTAATGCCCATAGTAGTACTTCCAGAAGACTGTGGACACACACCCACAGGCCTCAGCCCTCTCCAGCGTGTGGCAGGGGGAGGCCCTGGAGGGAGGGGATCTCAGGGAGAAAGGGCTCCAGGGGGAAGGTGAGGGGACCCTGCCGACGTGCCCATGCACCCACACTCCTGCCCACTGTCCCTGTCCCATCTCTGACACCCCATCACAGTCGGCCCAGTGCCTCTGCCCCCACGGCTGGTCCCACCTGGGGCGGCCCCGTCACCCTCCAGCGTGGAGGGCTCTGCCCTCTGCCAGCCCAAGGCTCCCAGAGCACCGCACCCTTGATCACGGGCACACACTCAGCTTGAGCCAGTCCTATGTGCCCCCAGCCAGGGGCAGTGCAGAACCTCCCATCTCGGCTGAGCGCCCTGTTCAGCAGGTGGCCCCCAGCCGCACTCACTTTTAACCGTGCCCTTGACGGCATCCAGCACAAACGTGATGGAAATGAAGAGGGCGATGATCTCCTCCGTCGACCTGCCAGGAGGCCATGAGCCTCATCAGAGTGGGTGTGGTCAGGGGGCAGGTGGGGGAGGCCTCCCTGAGCCCCTGCACAGTCCCCTGCCTCCCCCTGCCAGGAAGAAGGCCAGGGCCCCAGGCCTTGCCTGAGCCCACCCCAGCCCCTTGGGGCAGCAATATGGTGGGGGCACCCCCACCACCCTGGGGTTACAGGGGGCTGAACCAGATCCCAAGCCTTGAGGGTCCCAGCAGCTCACGGAAGGGCCAGTCACCTCTTGAAGAGACTCATGACCAGGCTGAGGTTGAAAAAGGCATAAAGCGCAAGGAAGAAACTATTCCACAGGCCCGTCCATGCGTAGAAGGAGTTGAAGTCCAGGTCATAGTCATCACAGATGACACGAATCACTGCAGGCAGGGGGCAGGGCGGGTCAGGGCCCGGCAGGAACCAGGGGTCTCAGGCACCATCTCCCGCCTCAGCCCCCACTGCACC
Task1_train_27640
A genomic change on Chromosome 20 affects SLC4A11 (solute carrier family 4 member 11). Classify this variant as benign or pathogenic, and name the disease if relevant.
Pathogenic; Corneal dystrophy, Fuchs endothelial, 4
CTCCGTCAAACCATTCCCACCCCGTGTCCTGCCGTCGGCAGTCCTCCCACCTCCCTCCATCGCCACCAGTGCTGCCCCTGCCCTGTAAAATCCAGGATCCGCACAACAGATGGGATGGTTCACAAGTGCTCCACACGAAGCCTCGGCCTCCCGGCAGGCAGCTTTCATCTGAGAGTCACAGGGCCCTTTGCTGTCACCCTGATGGTCCCTCCCGCCCCACTGCTCTTCACCAGCCACAGCGCCTCAGTGGCCCCAAGCCCTCGCTCCTCTGGACCCTTGCACATGCTGTTCCCAGAACGCTTTCCCTGCAGGTCCCTGGAGAAATGGCCATGCGAAGGCCTCCTGGATCTTCCATGTTTCACTGTTGGGCCAGCACCCACTGTGCGACGTTGGAGGTGACAGACCACAGGTGGCACTCCACAAACTCTGTCCCTTGCATTCCACTTCCCCAGGGAGGGCTTCCCCTCCCCAGAGTGGGGGTGGAGTGGCAGTAGCAGGGACACAGGTGGCACATAGGAGCCTAGAAACAGGAGCTTTATTCTCTAATGTGCGTCCAGCAAGTTCCTTACACAATCAAGGAAATGGTTTCTCTTTCAGGCATCGACTCTTTTATCAAAAGAAAATCCATCCTGCTCAGTCCCACCCACCCTGGGCAGAAGCTGCCCTGAGCAACGCTCTTGGCCTAAAGCTAAAGGATAATGGGAGAGGGGTGGGCACATACCACTGCACCCCTACAATGCCCAGATGCCCCAGGCCTGAGTCAGCCATGAGAAGGCGCAGCACAGAGCAGTCACCCACACACCTACACCTCCCCTCACAGCTCCAGAGCCAGCCTGGGAGGACGTGGAGGGCTGGCGAATGGGGCGTGGGCAGGGTCTGCCAGTCAAGGCCTGTGCTCAGCGTCCATGACATCCAAGTACTTGGCTTCAATGATTCGGGGCAGCAGGATATAGCTGTGGGGAGGGAGGGACAGGAGGATGAGCCTGGGTCAGAGAGAAGGCAGTGGACACCCATCCCAGCCCACCCCAGCCCACCCACAGGGCCAGGCTAGGCCTCTCCTCCCCGCCCGCCTACCCCCAGCCCACCCACTCTCCACTCCTAGACTGGAGCCCCTCCTGCCCACCACCCACCCCAGCCCGCCCACTCTCCACCTCTAGGCTGGGCTCCTCCTGCCCGCCAGCCTCCCCAGCCCGCCCACTCTCCACCCCTAGGCAGGACCCCTCCTCCTGGGCACCCACCCCAACCCGCCCATTCTCCGCCCCTAGGTGGGACCCCTCCTCCCAGCCGCTGCCCCAGCCCGCCCATTCTCCACACCTAGACTGGGCCCCTCCTGCCCACTGCCCACCCGCCTGTACCGGATGGGGATCATGGCGATCATGATGAGGGGAAAGATCATCTTCATGTAGGGCAGGGAGCTCATGCCGAAGGCACACAGCAGCAGCAGCTGAAGCACCTGCAGGCCCGTGAAGTAGTGGATCTTCCTCTGGGGCACCCTCCGGATGTAGTGTGTCGGGGGGTACGCAGTCTGTGGGCGGCAGGGACCGGGTGTGGGCAGGCATGGGGCTGTGTCCCCACCCACGCCACTCCCTCGCAGGGCCAAGCGCTCACCTGCTCCTTGAGCAGCAGGGCCACGCGCTGGACGAGCTGGTTGCCATCGAGGGAGGTGAGCGCGATGTAGAGGAAGAGGCCATAGAGCACGGGCTTGGGGATCCACTGAAGCGGGACCGGCAGCAGCAACAGGGACAGGCCCACCAGGACGCTGGCGCCCAGCGAGGTCAGCCGCGTCTCCTTCACGTTCACAATCCTGCGGTGGCCCGAGCCGCGAGTGTCACCTCTGCGCCCCTGTCCACAGGGCCTCACTCCTCCCTATGTCCCATGTGGCCAGAGGCTCCCCACTCCTCAGGGTCCACGGCTCTTGCCAGCCTCACACTCACGTGTCATAGATGTGTCCGTTCTCCACACGCTCCTCCACTAAGGCCAGGGCTCGCACGTGCAGCGGGGAGTGGGGGTAGGCGGCATGGATCCAAGGCAGCCCAAACAGAGACAGCCCTGTGTTGATGATGGCGAGGAGCAGGAGGTCCCAGTGGTAGGCAGTGCCCTTCACCAGCCTGCAGCAGACGGGCACTCGTGGACAGAGCCCCACAGCAGAGGCCCGGGCCCCGCCCACCCCACCCTCACCCACCCTCCACACCTGTTCTCCGGTGCATTCACCAAGGCGGCCACCAAGTTCTGCTCGATGAAGAAGAGCATGGACAGCAGGAAGCCGAGGCCCATGGCACCGCTGACGGCCCTCAGGGACAGCGACTGGATCTGCGCCATCGCAAAGGGGCTCTCGCTGGGGTTGTAGCGGAACTTGCTCACTGCAGTAGGGGACAGGCTACTGCTATGCCTGCAGCGCCTGGGGAGCTACCCCACGTCACCCACCGCCCGGCCCCAACTCACTCTCGATTTCCCGGAAGCCATGGGAGCTGATGAGGGAGAAGGCGAGCACCGCGATGGGCAGGGCGCAGTCGGACAGGATCTCTCGCACGCAGGGGTGCAGGTAGGGGCTGGGGACAGCAGGTGCATGAGCACAGCCTTTGACCCATGCGGCCCCTCCCCTCCCCATGCAGCCCCTCACCTCTTCTTGAATTGGTAGAGGGTGTAGCCCAGCCAGAGCGTGCCCAGCATGATGAGGAGGCTGAGCACGGCGGTCGCCTGGCCTGAGTGTGTGGCCGAGGGCAGCTCCGTGGGGCTGGCGAGGAAGCTGGCGTTGAGGGCAGTGTGGAGGCTGGCGTTGAGGCTGGCGCCGAGGCCTGACAGGCTGACAAGGGATGAAGTCCTTTTTGTGTGATAGTCGTCCAAGTAATGCCCATAGTAGTACTTCCAGAAGACTGTGGACACACACCCACAGGCCTCAGCCCTCTCCAGCGTGTGGCAGGGGGAGGCCCTGGAGGGAGGGGATCTCAGGGAGAAAGGGCTCCAGGGGGAAGGTGAGGGGACCCTGCCGACGTGCCCATGCACCCACACTCCTGCCCACTGTCCCTGTCCCATCTCTGACACCCCATCACAGTCGGCCCAGTGCCTCTGCCCCCACGGCTGGTCCCACCTGGGGCGGCCCCGTCACCCTCCAGCGTGGAGGGCTCTGCCCTCTGCCAGCCCAAGGCTCCCAGAGCACCGCACCCTTGATCACGGGCACACACTCAGCTTGAGCCAGTCCTATGTGCCCCCAGCCAGGGGCAGTGCAGAACCTCCCATCTCGGCTGAGCGCCCTGTTCAGCAGGTGGCCCCCAGCCGCACTCACTTTTAACCGTGCCCTTGACGGCATCCAGCACAAACGTGATGGAAATGAAGAGGGCGATGATCTCCTCCGTCGACCTGCCAGGAGGCCATGAGCCTCATCAGAGTGGGTGTGGTCAGGGGGCAGGTGGGGGAGGCCTCCCTGAGCCCCTGCACAGTCCCCTGCCTCCCCCTGCCAGGAAGAAGGCCAGGGCCCCAGGCCTTGCCTGAGCCCACCCCAGCCCCTTGGGGCAGCAATATGGTGGGGGCACCCCCACCACCCTGGGGTTACAGGGGGCTGAACCAGATCCCAAGCCTTGAGGGTCCCAGCAGCTCACGGAAGGGCCAGTCACCTCTTGAAGAGACTCATGACCAGGCTGAGGTTGAAAAAGGCATAAAGCGCAAGGAAGAAACTATTCCACAGGCCCGTCCATGCGTAGAAGGAGTTGAAGTCCAGGTCATAGTCATCACAGATGACACGAATCACTGCAGGCAGGGGGCAGGGCGGGTCAGGGCCCGGCAGGAACCAGGGGTCTCAGGCACCATCTCCCGCCTCAGCCCCCACTGCACCCTGGATGTAGAGCGCCAGGGGCGCGGTGGTCAGCAGAATCACCAATGGCTGCCCAGAGAAGAGCGCGTAGAGCAGGCCCCCGATGCTCTGCCCGGCTATGGTCTTCTGCACGTCTGTGGGGGTGCGGAGGTCAGGTGGGCGCCGCAGCCCAGGGCCCAGCCCAGCATACCCCCACCCACCGCCCACCGCCAGCCCCTCACCGATGGCCCCGTCTGTGTTCTCGTCATTGAGAGACCCGAAAGCGATGGTGGGCAGGAGGCAGGCGAA
CTCCGTCAAACCATTCCCACCCCGTGTCCTGCCGTCGGCAGTCCTCCCACCTCCCTCCATCGCCACCAGTGCTGCCCCTGCCCTGTAAAATCCAGGATCCGCACAACAGATGGGATGGTTCACAAGTGCTCCACACGAAGCCTCGGCCTCCCGGCAGGCAGCTTTCATCTGAGAGTCACAGGGCCCTTTGCTGTCACCCTGATGGTCCCTCCCGCCCCACTGCTCTTCACCAGCCACAGCGCCTCAGTGGCCCCAAGCCCTCGCTCCTCTGGACCCTTGCACATGCTGTTCCCAGAACGCTTTCCCTGCAGGTCCCTGGAGAAATGGCCATGCGAAGGCCTCCTGGATCTTCCATGTTTCACTGTTGGGCCAGCACCCACTGTGCGACGTTGGAGGTGACAGACCACAGGTGGCACTCCACAAACTCTGTCCCTTGCATTCCACTTCCCCAGGGAGGGCTTCCCCTCCCCAGAGTGGGGGTGGAGTGGCAGTAGCAGGGACACAGGTGGCACATAGGAGCCTAGAAACAGGAGCTTTATTCTCTAATGTGCGTCCAGCAAGTTCCTTACACAATCAAGGAAATGGTTTCTCTTTCAGGCATCGACTCTTTTATCAAAAGAAAATCCATCCTGCTCAGTCCCACCCACCCTGGGCAGAAGCTGCCCTGAGCAACGCTCTTGGCCTAAAGCTAAAGGATAATGGGAGAGGGGTGGGCACATACCACTGCACCCCTACAATGCCCAGATGCCCCAGGCCTGAGTCAGCCATGAGAAGGCGCAGCACAGAGCAGTCACCCACACACCTACACCTCCCCTCACAGCTCCAGAGCCAGCCTGGGAGGACGTGGAGGGCTGGCGAATGGGGCGTGGGCAGGGTCTGCCAGTCAAGGCCTGTGCTCAGCGTCCATGACATCCAAGTACTTGGCTTCAATGATTCGGGGCAGCAGGATATAGCTGTGGGGAGGGAGGGACAGGAGGATGAGCCTGGGTCAGAGAGAAGGCAGTGGACACCCATCCCAGCCCACCCCAGCCCACCCACAGGGCCAGGCTAGGCCTCTCCTCCCCGCCCGCCTACCCCCAGCCCACCCACTCTCCACTCCTAGACTGGAGCCCCTCCTGCCCACCACCCACCCCAGCCCGCCCACTCTCCACCTCTAGGCTGGGCTCCTCCTGCCCGCCAGCCTCCCCAGCCCGCCCACTCTCCACCCCTAGGCAGGACCCCTCCTCCTGGGCACCCACCCCAACCCGCCCATTCTCCGCCCCTAGGTGGGACCCCTCCTCCCAGCCGCTGCCCCAGCCCGCCCATTCTCCACACCTAGACTGGGCCCCTCCTGCCCACTGCCCACCCGCCTGTACCGGATGGGGATCATGGCGATCATGATGAGGGGAAAGATCATCTTCATGTAGGGCAGGGAGCTCATGCCGAAGGCACACAGCAGCAGCAGCTGAAGCACCTGCAGGCCCGTGAAGTAGTGGATCTTCCTCTGGGGCACCCTCCGGATGTAGTGTGTCGGGGGGTACGCAGTCTGTGGGCGGCAGGGACCGGGTGTGGGCAGGCATGGGGCTGTGTCCCCACCCACGCCACTCCCTCGCAGGGCCAAGCGCTCACCTGCTCCTTGAGCAGCAGGGCCACGCGCTGGACGAGCTGGTTGCCATCGAGGGAGGTGAGCGCGATGTAGAGGAAGAGGCCATAGAGCACGGGCTTGGGGATCCACTGAAGCGGGACCGGCAGCAGCAACAGGGACAGGCCCACCAGGACGCTGGCGCCCAGCGAGGTCAGCCGCGTCTCCTTCACGTTCACAATCCTGCGGTGGCCCGAGCCGCGAGTGTCACCTCTGCGCCCCTGTCCACAGGGCCTCACTCCTCCCTATGTCCCATGTGGCCAGAGGCTCCCCACTCCTCAGGGTCCACGGCTCTTGCCAGCCTCACACTCACGTGTCATAGATGTGTCCGTTCTCCACACGCTCCTCCACTAAGGCCAGGGCTCGCACGTGCAGCGGGGAGTGGGGGTAGGCGGCATGGATCCAAGGCAGCCCAAACAGAGACAGCTCTGTGTTGATGATGGCGAGGAGCAGGAGGTCCCAGTGGTAGGCAGTGCCCTTCACCAGCCTGCAGCAGACGGGCACTCGTGGACAGAGCCCCACAGCAGAGGCCCGGGCCCCGCCCACCCCACCCTCACCCACCCTCCACACCTGTTCTCCGGTGCATTCACCAAGGCGGCCACCAAGTTCTGCTCGATGAAGAAGAGCATGGACAGCAGGAAGCCGAGGCCCATGGCACCGCTGACGGCCCTCAGGGACAGCGACTGGATCTGCGCCATCGCAAAGGGGCTCTCGCTGGGGTTGTAGCGGAACTTGCTCACTGCAGTAGGGGACAGGCTACTGCTATGCCTGCAGCGCCTGGGGAGCTACCCCACGTCACCCACCGCCCGGCCCCAACTCACTCTCGATTTCCCGGAAGCCATGGGAGCTGATGAGGGAGAAGGCGAGCACCGCGATGGGCAGGGCGCAGTCGGACAGGATCTCTCGCACGCAGGGGTGCAGGTAGGGGCTGGGGACAGCAGGTGCATGAGCACAGCCTTTGACCCATGCGGCCCCTCCCCTCCCCATGCAGCCCCTCACCTCTTCTTGAATTGGTAGAGGGTGTAGCCCAGCCAGAGCGTGCCCAGCATGATGAGGAGGCTGAGCACGGCGGTCGCCTGGCCTGAGTGTGTGGCCGAGGGCAGCTCCGTGGGGCTGGCGAGGAAGCTGGCGTTGAGGGCAGTGTGGAGGCTGGCGTTGAGGCTGGCGCCGAGGCCTGACAGGCTGACAAGGGATGAAGTCCTTTTTGTGTGATAGTCGTCCAAGTAATGCCCATAGTAGTACTTCCAGAAGACTGTGGACACACACCCACAGGCCTCAGCCCTCTCCAGCGTGTGGCAGGGGGAGGCCCTGGAGGGAGGGGATCTCAGGGAGAAAGGGCTCCAGGGGGAAGGTGAGGGGACCCTGCCGACGTGCCCATGCACCCACACTCCTGCCCACTGTCCCTGTCCCATCTCTGACACCCCATCACAGTCGGCCCAGTGCCTCTGCCCCCACGGCTGGTCCCACCTGGGGCGGCCCCGTCACCCTCCAGCGTGGAGGGCTCTGCCCTCTGCCAGCCCAAGGCTCCCAGAGCACCGCACCCTTGATCACGGGCACACACTCAGCTTGAGCCAGTCCTATGTGCCCCCAGCCAGGGGCAGTGCAGAACCTCCCATCTCGGCTGAGCGCCCTGTTCAGCAGGTGGCCCCCAGCCGCACTCACTTTTAACCGTGCCCTTGACGGCATCCAGCACAAACGTGATGGAAATGAAGAGGGCGATGATCTCCTCCGTCGACCTGCCAGGAGGCCATGAGCCTCATCAGAGTGGGTGTGGTCAGGGGGCAGGTGGGGGAGGCCTCCCTGAGCCCCTGCACAGTCCCCTGCCTCCCCCTGCCAGGAAGAAGGCCAGGGCCCCAGGCCTTGCCTGAGCCCACCCCAGCCCCTTGGGGCAGCAATATGGTGGGGGCACCCCCACCACCCTGGGGTTACAGGGGGCTGAACCAGATCCCAAGCCTTGAGGGTCCCAGCAGCTCACGGAAGGGCCAGTCACCTCTTGAAGAGACTCATGACCAGGCTGAGGTTGAAAAAGGCATAAAGCGCAAGGAAGAAACTATTCCACAGGCCCGTCCATGCGTAGAAGGAGTTGAAGTCCAGGTCATAGTCATCACAGATGACACGAATCACTGCAGGCAGGGGGCAGGGCGGGTCAGGGCCCGGCAGGAACCAGGGGTCTCAGGCACCATCTCCCGCCTCAGCCCCCACTGCACCCTGGATGTAGAGCGCCAGGGGCGCGGTGGTCAGCAGAATCACCAATGGCTGCCCAGAGAAGAGCGCGTAGAGCAGGCCCCCGATGCTCTGCCCGGCTATGGTCTTCTGCACGTCTGTGGGGGTGCGGAGGTCAGGTGGGCGCCGCAGCCCAGGGCCCAGCCCAGCATACCCCCACCCACCGCCCACCGCCAGCCCCTCACCGATGGCCCCGTCTGTGTTCTCGTCATTGAGAGACCCGAAAGCGATGGTGGGCAGGAGGCAGGCGAA
Task1_train_27641
The following genetic variant occurs in SLC4A11 (solute carrier family 4 member 11) on Chromosome 20. Classify its clinical effect — pathogenic or benign — and list any associated condition.
Pathogenic; Congenital hereditary endothelial dystrophy of cornea
CTCCACACCTAGACTGGGCCCCTCCTGCCCACTGCCCACCCGCCTGTACCGGATGGGGATCATGGCGATCATGATGAGGGGAAAGATCATCTTCATGTAGGGCAGGGAGCTCATGCCGAAGGCACACAGCAGCAGCAGCTGAAGCACCTGCAGGCCCGTGAAGTAGTGGATCTTCCTCTGGGGCACCCTCCGGATGTAGTGTGTCGGGGGGTACGCAGTCTGTGGGCGGCAGGGACCGGGTGTGGGCAGGCATGGGGCTGTGTCCCCACCCACGCCACTCCCTCGCAGGGCCAAGCGCTCACCTGCTCCTTGAGCAGCAGGGCCACGCGCTGGACGAGCTGGTTGCCATCGAGGGAGGTGAGCGCGATGTAGAGGAAGAGGCCATAGAGCACGGGCTTGGGGATCCACTGAAGCGGGACCGGCAGCAGCAACAGGGACAGGCCCACCAGGACGCTGGCGCCCAGCGAGGTCAGCCGCGTCTCCTTCACGTTCACAATCCTGCGGTGGCCCGAGCCGCGAGTGTCACCTCTGCGCCCCTGTCCACAGGGCCTCACTCCTCCCTATGTCCCATGTGGCCAGAGGCTCCCCACTCCTCAGGGTCCACGGCTCTTGCCAGCCTCACACTCACGTGTCATAGATGTGTCCGTTCTCCACACGCTCCTCCACTAAGGCCAGGGCTCGCACGTGCAGCGGGGAGTGGGGGTAGGCGGCATGGATCCAAGGCAGCCCAAACAGAGACAGCCCTGTGTTGATGATGGCGAGGAGCAGGAGGTCCCAGTGGTAGGCAGTGCCCTTCACCAGCCTGCAGCAGACGGGCACTCGTGGACAGAGCCCCACAGCAGAGGCCCGGGCCCCGCCCACCCCACCCTCACCCACCCTCCACACCTGTTCTCCGGTGCATTCACCAAGGCGGCCACCAAGTTCTGCTCGATGAAGAAGAGCATGGACAGCAGGAAGCCGAGGCCCATGGCACCGCTGACGGCCCTCAGGGACAGCGACTGGATCTGCGCCATCGCAAAGGGGCTCTCGCTGGGGTTGTAGCGGAACTTGCTCACTGCAGTAGGGGACAGGCTACTGCTATGCCTGCAGCGCCTGGGGAGCTACCCCACGTCACCCACCGCCCGGCCCCAACTCACTCTCGATTTCCCGGAAGCCATGGGAGCTGATGAGGGAGAAGGCGAGCACCGCGATGGGCAGGGCGCAGTCGGACAGGATCTCTCGCACGCAGGGGTGCAGGTAGGGGCTGGGGACAGCAGGTGCATGAGCACAGCCTTTGACCCATGCGGCCCCTCCCCTCCCCATGCAGCCCCTCACCTCTTCTTGAATTGGTAGAGGGTGTAGCCCAGCCAGAGCGTGCCCAGCATGATGAGGAGGCTGAGCACGGCGGTCGCCTGGCCTGAGTGTGTGGCCGAGGGCAGCTCCGTGGGGCTGGCGAGGAAGCTGGCGTTGAGGGCAGTGTGGAGGCTGGCGTTGAGGCTGGCGCCGAGGCCTGACAGGCTGACAAGGGATGAAGTCCTTTTTGTGTGATAGTCGTCCAAGTAATGCCCATAGTAGTACTTCCAGAAGACTGTGGACACACACCCACAGGCCTCAGCCCTCTCCAGCGTGTGGCAGGGGGAGGCCCTGGAGGGAGGGGATCTCAGGGAGAAAGGGCTCCAGGGGGAAGGTGAGGGGACCCTGCCGACGTGCCCATGCACCCACACTCCTGCCCACTGTCCCTGTCCCATCTCTGACACCCCATCACAGTCGGCCCAGTGCCTCTGCCCCCACGGCTGGTCCCACCTGGGGCGGCCCCGTCACCCTCCAGCGTGGAGGGCTCTGCCCTCTGCCAGCCCAAGGCTCCCAGAGCACCGCACCCTTGATCACGGGCACACACTCAGCTTGAGCCAGTCCTATGTGCCCCCAGCCAGGGGCAGTGCAGAACCTCCCATCTCGGCTGAGCGCCCTGTTCAGCAGGTGGCCCCCAGCCGCACTCACTTTTAACCGTGCCCTTGACGGCATCCAGCACAAACGTGATGGAAATGAAGAGGGCGATGATCTCCTCCGTCGACCTGCCAGGAGGCCATGAGCCTCATCAGAGTGGGTGTGGTCAGGGGGCAGGTGGGGGAGGCCTCCCTGAGCCCCTGCACAGTCCCCTGCCTCCCCCTGCCAGGAAGAAGGCCAGGGCCCCAGGCCTTGCCTGAGCCCACCCCAGCCCCTTGGGGCAGCAATATGGTGGGGGCACCCCCACCACCCTGGGGTTACAGGGGGCTGAACCAGATCCCAAGCCTTGAGGGTCCCAGCAGCTCACGGAAGGGCCAGTCACCTCTTGAAGAGACTCATGACCAGGCTGAGGTTGAAAAAGGCATAAAGCGCAAGGAAGAAACTATTCCACAGGCCCGTCCATGCGTAGAAGGAGTTGAAGTCCAGGTCATAGTCATCACAGATGACACGAATCACTGCAGGCAGGGGGCAGGGCGGGTCAGGGCCCGGCAGGAACCAGGGGTCTCAGGCACCATCTCCCGCCTCAGCCCCCACTGCACCCTGGATGTAGAGCGCCAGGGGCGCGGTGGTCAGCAGAATCACCAATGGCTGCCCAGAGAAGAGCGCGTAGAGCAGGCCCCCGATGCTCTGCCCGGCTATGGTCTTCTGCACGTCTGTGGGGGTGCGGAGGTCAGGTGGGCGCCGCAGCCCAGGGCCCAGCCCAGCATACCCCCACCCACCGCCCACCGCCAGCCCCTCACCGATGGCCCCGTCTGTGTTCTCGTCATTGAGAGACCCGAAAGCGATGGTGGGCAGGAGGCAGGCGAAGTAGAGGAACAGGGTGGTGGTGATGTATTTGCCCACAGCCTTGTTTTTCCCAATAATGCCTAGGAATGGGGGATGGGAGAGAGGGTTTGCTGGGGATGCAGGACAGGCACACGTGTGGGCCCAAGGCCTGGAAAGCAGAGGCCACGTACCATCAGTGAAGTCCAAGGGGTACAAGGGGAACCTGCGTGCGATGTCCTCCCGGATGCCCTTCCCAAAAGGGACAAAGTCCTTGCACTTTGGGGGCTGGAGGAGAGGACAGAGCGCCTGTTAGCCCTGTCCGGCCCATGCCCCCGCCGACCCTGCCGGCCCCCGCCGGCCTCTACCCTGTACCTCTGGGTGTCTGTGGGCAGGGAGGGAGACTGTGCTGCGTTCCTTCGTTCTCGGCGCCACTGGACCGTGGCTCACCATGGTGAGCAGCTGTCTCTGATGCACCAAGGCCTCCTTGAATTCCTCCTCTGTGCGGGTCTCCAGGAGCTTCTGGCGGAAGGCGATATCCGAGAACATGGTGGCAAACGTGCGCGCCACCTCCATCGCAGTCTTAGTGCTTTTCTAGGGGTGGAGGATGGGAGTCACCCCTAGAAACAGAGGAGGCCCTGCCCGGGCCGAGCAGGTGAAGGTGCTCTCCCCATGAACTGGCAGCAGGTTTTTTGTCTGTTTGTTTTTTGTGTTTTTTTGAGACAGGGTCTCACTGTCACCCAGGCTGAGTGCAGTGGCACACTCACGGCTTATCGTAGCCTCGACCTCCCGGGCTCAAGTGATTCTCCCACATCAGTCCCCTGAGTAGCTGGGACCACAGGCACGCACCACCATGCCAGGCAATTTTTAATTTTTAACTTTTTGTAGAGACGAGGTCTCACTATGTTGACCAGGCTGGTCTCAAACTCCTGGCCTCAAGCAATCCATCTGTCTAGGCCTCCCAAAGTGCTGGGATTACAGGCACGAGCCACTGTGCCCAGATGCTGGTAGCAGGTTTTATTCCACAAAGTTCAGGCATTAGTGTACTCTGCCATGATTTCAACCAGGTCAGCAGATCACCGCAACTACCATCGATCTATATTTTTGTTATAAACTCATGATTTCTTATAAACTCAAGATATTACTTTTGTCCTAAGCAACAAAAGTCTGTGTGATCACAGATAATGAAACCACAGTGGAGAAAAATGTTTCCCCAGCTACGTTTCCCCAGTGGTATTTGCACTGTCTGCTGGTTTGACTTTCAGAGAGGGTCCAAGCCCGTCAGGCACTCTCTCTCTCGCCCGGCCAAGGTGAAGCCCGTCCGTGAACCATGAACTCACGAACTCAGTGT
CTCCACACCTAGACTGGGCCCCTCCTGCCCACTGCCCACCCGCCTGTACCGGATGGGGATCATGGCGATCATGATGAGGGGAAAGATCATCTTCATGTAGGGCAGGGAGCTCATGCCGAAGGCACACAGCAGCAGCAGCTGAAGCACCTGCAGGCCCGTGAAGTAGTGGATCTTCCTCTGGGGCACCCTCCGGATGTAGTGTGTCGGGGGGTACGCAGTCTGTGGGCGGCAGGGACCGGGTGTGGGCAGGCATGGGGCTGTGTCCCCACCCACGCCACTCCCTCGCAGGGCCAAGCGCTCACCTGCTCCTTGAGCAGCAGGGCCACGCGCTGGACGAGCTGGTTGCCATCGAGGGAGGTGAGCGCGATGTAGAGGAAGAGGCCATAGAGCACGGGCTTGGGGATCCACTGAAGCGGGACCGGCAGCAGCAACAGGGACAGGCCCACCAGGACGCTGGCGCCCAGCGAGGTCAGCCGCGTCTCCTTCACGTTCACAATCCTGCGGTGGCCCGAGCCGCGAGTGTCACCTCTGCGCCCCTGTCCACAGGGCCTCACTCCTCCCTATGTCCCATGTGGCCAGAGGCTCCCCACTCCTCAGGGTCCACGGCTCTTGCCAGCCTCACACTCACGTGTCATAGATGTGTCCGTTCTCCACACGCTCCTCCACTAAGGCCAGGGCTCGCACGTGCAGCGGGGAGTGGGGGTAGGCGGCATGGATCCAAGGCAGCCCAAACAGAGACAGCCCTGTGTTGATGATGGCGAGGAGCAGGAGGTCCCAGTGGTAGGCAGTGCCCTTCACCAGCCTGCAGCAGACGGGCACTCGTGGACAGAGCCCCACAGCAGAGGCCCGGGCCCCGCCCACCCCACCCTCACCCACCCTCCACACCTGTTCTCCGGTGCATTCACCAAGGCGGCCACCAAGTTCTGCTCGATGAAGAAGAGCATGGACAGCAGGAAGCCGAGGCCCATGGCACCGCTGACGGCCCTCAGGGACAGCGACTGGATCTGCGCCATCGCAAAGGGGCTCTCGCTGGGGTTGTAGCGGAACTTGCTCACTGCAGTAGGGGACAGGCTACTGCTATGCCTGCAGCGCCTGGGGAGCTACCCCACGTCACCCACCGCCCGGCCCCAACTCACTCTCGATTTCCCGGAAGCCATGGGAGCTGATGAGGGAGAAGGCGAGCACCGCGATGGGCAGGGCGCAGTCGGACAGGATCTCTCGCACGCAGGGGTGCAGGTAGGGGCTGGGGACAGCAGGTGCATGAGCACAGCCTTTGACCCATGCGGCCCCTCCCCTCCCCATGCAGCCCCTCACCTCTTCTTGAATTGGTAGAGGGTGTAGCCCAGCCAGAGCGTGCCCAGCATGATGAGGAGGCTGAGCACGGCGGTCGCCTGGCCTGAGTGTGTGGCCGAGGGCAGCTCCGTGGGGCTGGCGAGGAAGCTGGCGTTGAGGGCAGTGTGGAGGCTGGCGTTGAGGCTGGCGCCGAGGCCTGACAGGCTGACAAGGGATGAAGTCCTTTTTGTGTGATAGTCGTCCAAGTAATGCCCATAGTAGTACTTCCAGAAGACTGTGGACACACACCCACAGGCCTCAGCCCTCTCCAGCGTGTGGCAGGGGGAGGCCCTGGAGGGAGGGGATCTCAGGGAGAAAGGGCTCCAGGGGGAAGGTGAGGGGACCCTGCCGACGTGCCCATGCACCCACACTCCTGCCCACTGTCCCTGTCCCATCTCTGACACCCCATCACAGTCGGCCCAGTGCCTCTGCCCCCACGGCTGGTCCCACCTGGGGCGGCCCCGTCACCCTCCAGCGTGGAGGGCTCTGCCCTCTGCCAGCCCAAGGCTCCCAGAGCACCGCACCCTTGATCACGGGCACACACTCAGCTTGAGCCAGTCCTATGTGCCCCCAGCCAGGGGCAGTGCAGAACCTCCCATCTCGGCTGAGCGCCCTGTTCAGCAGGTGGCCCCCAGCCGCACTCACTTTTAACCGTGCCCTTGACGGCATCCAGCACAAACGTGATGGAAATGAAGAGGGCGATGATCTCCTCCGTCCACCTGCCAGGAGGCCATGAGCCTCATCAGAGTGGGTGTGGTCAGGGGGCAGGTGGGGGAGGCCTCCCTGAGCCCCTGCACAGTCCCCTGCCTCCCCCTGCCAGGAAGAAGGCCAGGGCCCCAGGCCTTGCCTGAGCCCACCCCAGCCCCTTGGGGCAGCAATATGGTGGGGGCACCCCCACCACCCTGGGGTTACAGGGGGCTGAACCAGATCCCAAGCCTTGAGGGTCCCAGCAGCTCACGGAAGGGCCAGTCACCTCTTGAAGAGACTCATGACCAGGCTGAGGTTGAAAAAGGCATAAAGCGCAAGGAAGAAACTATTCCACAGGCCCGTCCATGCGTAGAAGGAGTTGAAGTCCAGGTCATAGTCATCACAGATGACACGAATCACTGCAGGCAGGGGGCAGGGCGGGTCAGGGCCCGGCAGGAACCAGGGGTCTCAGGCACCATCTCCCGCCTCAGCCCCCACTGCACCCTGGATGTAGAGCGCCAGGGGCGCGGTGGTCAGCAGAATCACCAATGGCTGCCCAGAGAAGAGCGCGTAGAGCAGGCCCCCGATGCTCTGCCCGGCTATGGTCTTCTGCACGTCTGTGGGGGTGCGGAGGTCAGGTGGGCGCCGCAGCCCAGGGCCCAGCCCAGCATACCCCCACCCACCGCCCACCGCCAGCCCCTCACCGATGGCCCCGTCTGTGTTCTCGTCATTGAGAGACCCGAAAGCGATGGTGGGCAGGAGGCAGGCGAAGTAGAGGAACAGGGTGGTGGTGATGTATTTGCCCACAGCCTTGTTTTTCCCAATAATGCCTAGGAATGGGGGATGGGAGAGAGGGTTTGCTGGGGATGCAGGACAGGCACACGTGTGGGCCCAAGGCCTGGAAAGCAGAGGCCACGTACCATCAGTGAAGTCCAAGGGGTACAAGGGGAACCTGCGTGCGATGTCCTCCCGGATGCCCTTCCCAAAAGGGACAAAGTCCTTGCACTTTGGGGGCTGGAGGAGAGGACAGAGCGCCTGTTAGCCCTGTCCGGCCCATGCCCCCGCCGACCCTGCCGGCCCCCGCCGGCCTCTACCCTGTACCTCTGGGTGTCTGTGGGCAGGGAGGGAGACTGTGCTGCGTTCCTTCGTTCTCGGCGCCACTGGACCGTGGCTCACCATGGTGAGCAGCTGTCTCTGATGCACCAAGGCCTCCTTGAATTCCTCCTCTGTGCGGGTCTCCAGGAGCTTCTGGCGGAAGGCGATATCCGAGAACATGGTGGCAAACGTGCGCGCCACCTCCATCGCAGTCTTAGTGCTTTTCTAGGGGTGGAGGATGGGAGTCACCCCTAGAAACAGAGGAGGCCCTGCCCGGGCCGAGCAGGTGAAGGTGCTCTCCCCATGAACTGGCAGCAGGTTTTTTGTCTGTTTGTTTTTTGTGTTTTTTTGAGACAGGGTCTCACTGTCACCCAGGCTGAGTGCAGTGGCACACTCACGGCTTATCGTAGCCTCGACCTCCCGGGCTCAAGTGATTCTCCCACATCAGTCCCCTGAGTAGCTGGGACCACAGGCACGCACCACCATGCCAGGCAATTTTTAATTTTTAACTTTTTGTAGAGACGAGGTCTCACTATGTTGACCAGGCTGGTCTCAAACTCCTGGCCTCAAGCAATCCATCTGTCTAGGCCTCCCAAAGTGCTGGGATTACAGGCACGAGCCACTGTGCCCAGATGCTGGTAGCAGGTTTTATTCCACAAAGTTCAGGCATTAGTGTACTCTGCCATGATTTCAACCAGGTCAGCAGATCACCGCAACTACCATCGATCTATATTTTTGTTATAAACTCATGATTTCTTATAAACTCAAGATATTACTTTTGTCCTAAGCAACAAAAGTCTGTGTGATCACAGATAATGAAACCACAGTGGAGAAAAATGTTTCCCCAGCTACGTTTCCCCAGTGGTATTTGCACTGTCTGCTGGTTTGACTTTCAGAGAGGGTCCAAGCCCGTCAGGCACTCTCTCTCTCGCCCGGCCAAGGTGAAGCCCGTCCGTGAACCATGAACTCACGAACTCAGTGT
Task1_train_27642
Given this variant in gene SLC4A11 (solute carrier family 4 member 11) on Chromosome 20, classify it as benign or pathogenic. Include the disorder it may cause if applicable.
Pathogenic; Corneal dystrophy-perceptive deafness syndrome
CTGTGTCCCCACCCACGCCACTCCCTCGCAGGGCCAAGCGCTCACCTGCTCCTTGAGCAGCAGGGCCACGCGCTGGACGAGCTGGTTGCCATCGAGGGAGGTGAGCGCGATGTAGAGGAAGAGGCCATAGAGCACGGGCTTGGGGATCCACTGAAGCGGGACCGGCAGCAGCAACAGGGACAGGCCCACCAGGACGCTGGCGCCCAGCGAGGTCAGCCGCGTCTCCTTCACGTTCACAATCCTGCGGTGGCCCGAGCCGCGAGTGTCACCTCTGCGCCCCTGTCCACAGGGCCTCACTCCTCCCTATGTCCCATGTGGCCAGAGGCTCCCCACTCCTCAGGGTCCACGGCTCTTGCCAGCCTCACACTCACGTGTCATAGATGTGTCCGTTCTCCACACGCTCCTCCACTAAGGCCAGGGCTCGCACGTGCAGCGGGGAGTGGGGGTAGGCGGCATGGATCCAAGGCAGCCCAAACAGAGACAGCCCTGTGTTGATGATGGCGAGGAGCAGGAGGTCCCAGTGGTAGGCAGTGCCCTTCACCAGCCTGCAGCAGACGGGCACTCGTGGACAGAGCCCCACAGCAGAGGCCCGGGCCCCGCCCACCCCACCCTCACCCACCCTCCACACCTGTTCTCCGGTGCATTCACCAAGGCGGCCACCAAGTTCTGCTCGATGAAGAAGAGCATGGACAGCAGGAAGCCGAGGCCCATGGCACCGCTGACGGCCCTCAGGGACAGCGACTGGATCTGCGCCATCGCAAAGGGGCTCTCGCTGGGGTTGTAGCGGAACTTGCTCACTGCAGTAGGGGACAGGCTACTGCTATGCCTGCAGCGCCTGGGGAGCTACCCCACGTCACCCACCGCCCGGCCCCAACTCACTCTCGATTTCCCGGAAGCCATGGGAGCTGATGAGGGAGAAGGCGAGCACCGCGATGGGCAGGGCGCAGTCGGACAGGATCTCTCGCACGCAGGGGTGCAGGTAGGGGCTGGGGACAGCAGGTGCATGAGCACAGCCTTTGACCCATGCGGCCCCTCCCCTCCCCATGCAGCCCCTCACCTCTTCTTGAATTGGTAGAGGGTGTAGCCCAGCCAGAGCGTGCCCAGCATGATGAGGAGGCTGAGCACGGCGGTCGCCTGGCCTGAGTGTGTGGCCGAGGGCAGCTCCGTGGGGCTGGCGAGGAAGCTGGCGTTGAGGGCAGTGTGGAGGCTGGCGTTGAGGCTGGCGCCGAGGCCTGACAGGCTGACAAGGGATGAAGTCCTTTTTGTGTGATAGTCGTCCAAGTAATGCCCATAGTAGTACTTCCAGAAGACTGTGGACACACACCCACAGGCCTCAGCCCTCTCCAGCGTGTGGCAGGGGGAGGCCCTGGAGGGAGGGGATCTCAGGGAGAAAGGGCTCCAGGGGGAAGGTGAGGGGACCCTGCCGACGTGCCCATGCACCCACACTCCTGCCCACTGTCCCTGTCCCATCTCTGACACCCCATCACAGTCGGCCCAGTGCCTCTGCCCCCACGGCTGGTCCCACCTGGGGCGGCCCCGTCACCCTCCAGCGTGGAGGGCTCTGCCCTCTGCCAGCCCAAGGCTCCCAGAGCACCGCACCCTTGATCACGGGCACACACTCAGCTTGAGCCAGTCCTATGTGCCCCCAGCCAGGGGCAGTGCAGAACCTCCCATCTCGGCTGAGCGCCCTGTTCAGCAGGTGGCCCCCAGCCGCACTCACTTTTAACCGTGCCCTTGACGGCATCCAGCACAAACGTGATGGAAATGAAGAGGGCGATGATCTCCTCCGTCGACCTGCCAGGAGGCCATGAGCCTCATCAGAGTGGGTGTGGTCAGGGGGCAGGTGGGGGAGGCCTCCCTGAGCCCCTGCACAGTCCCCTGCCTCCCCCTGCCAGGAAGAAGGCCAGGGCCCCAGGCCTTGCCTGAGCCCACCCCAGCCCCTTGGGGCAGCAATATGGTGGGGGCACCCCCACCACCCTGGGGTTACAGGGGGCTGAACCAGATCCCAAGCCTTGAGGGTCCCAGCAGCTCACGGAAGGGCCAGTCACCTCTTGAAGAGACTCATGACCAGGCTGAGGTTGAAAAAGGCATAAAGCGCAAGGAAGAAACTATTCCACAGGCCCGTCCATGCGTAGAAGGAGTTGAAGTCCAGGTCATAGTCATCACAGATGACACGAATCACTGCAGGCAGGGGGCAGGGCGGGTCAGGGCCCGGCAGGAACCAGGGGTCTCAGGCACCATCTCCCGCCTCAGCCCCCACTGCACCCTGGATGTAGAGCGCCAGGGGCGCGGTGGTCAGCAGAATCACCAATGGCTGCCCAGAGAAGAGCGCGTAGAGCAGGCCCCCGATGCTCTGCCCGGCTATGGTCTTCTGCACGTCTGTGGGGGTGCGGAGGTCAGGTGGGCGCCGCAGCCCAGGGCCCAGCCCAGCATACCCCCACCCACCGCCCACCGCCAGCCCCTCACCGATGGCCCCGTCTGTGTTCTCGTCATTGAGAGACCCGAAAGCGATGGTGGGCAGGAGGCAGGCGAAGTAGAGGAACAGGGTGGTGGTGATGTATTTGCCCACAGCCTTGTTTTTCCCAATAATGCCTAGGAATGGGGGATGGGAGAGAGGGTTTGCTGGGGATGCAGGACAGGCACACGTGTGGGCCCAAGGCCTGGAAAGCAGAGGCCACGTACCATCAGTGAAGTCCAAGGGGTACAAGGGGAACCTGCGTGCGATGTCCTCCCGGATGCCCTTCCCAAAAGGGACAAAGTCCTTGCACTTTGGGGGCTGGAGGAGAGGACAGAGCGCCTGTTAGCCCTGTCCGGCCCATGCCCCCGCCGACCCTGCCGGCCCCCGCCGGCCTCTACCCTGTACCTCTGGGTGTCTGTGGGCAGGGAGGGAGACTGTGCTGCGTTCCTTCGTTCTCGGCGCCACTGGACCGTGGCTCACCATGGTGAGCAGCTGTCTCTGATGCACCAAGGCCTCCTTGAATTCCTCCTCTGTGCGGGTCTCCAGGAGCTTCTGGCGGAAGGCGATATCCGAGAACATGGTGGCAAACGTGCGCGCCACCTCCATCGCAGTCTTAGTGCTTTTCTAGGGGTGGAGGATGGGAGTCACCCCTAGAAACAGAGGAGGCCCTGCCCGGGCCGAGCAGGTGAAGGTGCTCTCCCCATGAACTGGCAGCAGGTTTTTTGTCTGTTTGTTTTTTGTGTTTTTTTGAGACAGGGTCTCACTGTCACCCAGGCTGAGTGCAGTGGCACACTCACGGCTTATCGTAGCCTCGACCTCCCGGGCTCAAGTGATTCTCCCACATCAGTCCCCTGAGTAGCTGGGACCACAGGCACGCACCACCATGCCAGGCAATTTTTAATTTTTAACTTTTTGTAGAGACGAGGTCTCACTATGTTGACCAGGCTGGTCTCAAACTCCTGGCCTCAAGCAATCCATCTGTCTAGGCCTCCCAAAGTGCTGGGATTACAGGCACGAGCCACTGTGCCCAGATGCTGGTAGCAGGTTTTATTCCACAAAGTTCAGGCATTAGTGTACTCTGCCATGATTTCAACCAGGTCAGCAGATCACCGCAACTACCATCGATCTATATTTTTGTTATAAACTCATGATTTCTTATAAACTCAAGATATTACTTTTGTCCTAAGCAACAAAAGTCTGTGTGATCACAGATAATGAAACCACAGTGGAGAAAAATGTTTCCCCAGCTACGTTTCCCCAGTGGTATTTGCACTGTCTGCTGGTTTGACTTTCAGAGAGGGTCCAAGCCCGTCAGGCACTCTCTCTCTCGCCCGGCCAAGGTGAAGCCCGTCCGTGAACCATGAACTCACGAACTCAGTGTCCAGCCCTCATCACAGCAACCTGCTCACCTAGGGGCAGTGTCTGCCCGTCTGTTGCTCAAAGCTCTAGTCCCGGGGCACTGTGCATGTTTGCTGTAGAAGAGGCCCGTGCCTGGCAGGGCATGGTGGCTCACGCCCATAATACCAACTTTTTTGGGAGGCTAAGGCAGGCAGATCACTTGAGGTCAAGAGTTCAAGACCAGCCTGGCCAACATGGTGAAACCCCATCTCTACTAAAAATACAAAATAATTAGCTGGC
CTGTGTCCCCACCCACGCCACTCCCTCGCAGGGCCAAGCGCTCACCTGCTCCTTGAGCAGCAGGGCCACGCGCTGGACGAGCTGGTTGCCATCGAGGGAGGTGAGCGCGATGTAGAGGAAGAGGCCATAGAGCACGGGCTTGGGGATCCACTGAAGCGGGACCGGCAGCAGCAACAGGGACAGGCCCACCAGGACGCTGGCGCCCAGCGAGGTCAGCCGCGTCTCCTTCACGTTCACAATCCTGCGGTGGCCCGAGCCGCGAGTGTCACCTCTGCGCCCCTGTCCACAGGGCCTCACTCCTCCCTATGTCCCATGTGGCCAGAGGCTCCCCACTCCTCAGGGTCCACGGCTCTTGCCAGCCTCACACTCACGTGTCATAGATGTGTCCGTTCTCCACACGCTCCTCCACTAAGGCCAGGGCTCGCACGTGCAGCGGGGAGTGGGGGTAGGCGGCATGGATCCAAGGCAGCCCAAACAGAGACAGCCCTGTGTTGATGATGGCGAGGAGCAGGAGGTCCCAGTGGTAGGCAGTGCCCTTCACCAGCCTGCAGCAGACGGGCACTCGTGGACAGAGCCCCACAGCAGAGGCCCGGGCCCCGCCCACCCCACCCTCACCCACCCTCCACACCTGTTCTCCGGTGCATTCACCAAGGCGGCCACCAAGTTCTGCTCGATGAAGAAGAGCATGGACAGCAGGAAGCCGAGGCCCATGGCACCGCTGACGGCCCTCAGGGACAGCGACTGGATCTGCGCCATCGCAAAGGGGCTCTCGCTGGGGTTGTAGCGGAACTTGCTCACTGCAGTAGGGGACAGGCTACTGCTATGCCTGCAGCGCCTGGGGAGCTACCCCACGTCACCCACCGCCCGGCCCCAACTCACTCTCGATTTCCCGGAAGCCATGGGAGCTGATGAGGGAGAAGGCGAGCACCGCGATGGGCAGGGCGCAGTCGGACAGGATCTCTCGCACGCAGGGGTGCAGGTAGGGGCTGGGGACAGCAGGTGCATGAGCACAGCCTTTGACCCATGCGGCCCCTCCCCTCCCCATGCAGCCCCTCACCTCTTCTTGAATTGGTAGAGGGTGTAGCCCAGCCAGAGCGTGCCCAGCATGATGAGGAGGCTGAGCACGGCGGTCGCCTGGCCTGAGTGTGTGGCCGAGGGCAGCTCCGTGGGGCTGGCGAGGAAGCTGGCGTTGAGGGCAGTGTGGAGGCTGGCGTTGAGGCTGGCGCCGAGGCCTGACAGGCTGACAAGGGATGAAGTCCTTTTTGTGTGATAGTCGTCCAAGTAATGCCCATAGTAGTACTTCCAGAAGACTGTGGACACACACCCACAGGCCTCAGCCCTCTCCAGCGTGTGGCAGGGGGAGGCCCTGGAGGGAGGGGATCTCAGGGAGAAAGGGCTCCAGGGGGAAGGTGAGGGGACCCTGCCGACGTGCCCATGCACCCACACTCCTGCCCACTGTCCCTGTCCCATCTCTGACACCCCATCACAGTCGGCCCAGTGCCTCTGCCCCCACGGCTGGTCCCACCTGGGGCGGCCCCGTCACCCTCCAGCGTGGAGGGCTCTGCCCTCTGCCAGCCCAAGGCTCCCAGAGCACCGCACCCTTGATCACGGGCACACACTCAGCTTGAGCCAGTCCTATGTGCCCCCAGCCAGGGGCAGTGCAGAACCTCCCATCTCGGCTGAGCGCCCTGTTCAGCAGGTGGCCCCCAGCCGCACTCACTTTTAACCGTGCCCTTGACGGCATCCAGCACAAACGTGATGGAAATGAAGAGGGCGATGATCTCCTCCGTCGACCTGCCAGGAGGCCATGAGCCTCATCAGAGTGGGTGTGGTCAGGGGGCAGGTGGGGGAGGCCTCCCTGAGCCCCTGCACAGTCCCCTGCCTCCCCCTGCCAGGAAGAAGGCCAGGGCCCCAGGCCTTGCCTGAGCCCACCCCAGCCCCTTGGGGCAGCAATATGGTGGGGGCACCCCCACCACCCTGGGGTTACAGGGGGCTGAACCAGATCCCAAGCCTTGAGGGTCCCAGCAGCTCACGGAAGGGCCAGTCACTTCTTGAAGAGACTCATGACCAGGCTGAGGTTGAAAAAGGCATAAAGCGCAAGGAAGAAACTATTCCACAGGCCCGTCCATGCGTAGAAGGAGTTGAAGTCCAGGTCATAGTCATCACAGATGACACGAATCACTGCAGGCAGGGGGCAGGGCGGGTCAGGGCCCGGCAGGAACCAGGGGTCTCAGGCACCATCTCCCGCCTCAGCCCCCACTGCACCCTGGATGTAGAGCGCCAGGGGCGCGGTGGTCAGCAGAATCACCAATGGCTGCCCAGAGAAGAGCGCGTAGAGCAGGCCCCCGATGCTCTGCCCGGCTATGGTCTTCTGCACGTCTGTGGGGGTGCGGAGGTCAGGTGGGCGCCGCAGCCCAGGGCCCAGCCCAGCATACCCCCACCCACCGCCCACCGCCAGCCCCTCACCGATGGCCCCGTCTGTGTTCTCGTCATTGAGAGACCCGAAAGCGATGGTGGGCAGGAGGCAGGCGAAGTAGAGGAACAGGGTGGTGGTGATGTATTTGCCCACAGCCTTGTTTTTCCCAATAATGCCTAGGAATGGGGGATGGGAGAGAGGGTTTGCTGGGGATGCAGGACAGGCACACGTGTGGGCCCAAGGCCTGGAAAGCAGAGGCCACGTACCATCAGTGAAGTCCAAGGGGTACAAGGGGAACCTGCGTGCGATGTCCTCCCGGATGCCCTTCCCAAAAGGGACAAAGTCCTTGCACTTTGGGGGCTGGAGGAGAGGACAGAGCGCCTGTTAGCCCTGTCCGGCCCATGCCCCCGCCGACCCTGCCGGCCCCCGCCGGCCTCTACCCTGTACCTCTGGGTGTCTGTGGGCAGGGAGGGAGACTGTGCTGCGTTCCTTCGTTCTCGGCGCCACTGGACCGTGGCTCACCATGGTGAGCAGCTGTCTCTGATGCACCAAGGCCTCCTTGAATTCCTCCTCTGTGCGGGTCTCCAGGAGCTTCTGGCGGAAGGCGATATCCGAGAACATGGTGGCAAACGTGCGCGCCACCTCCATCGCAGTCTTAGTGCTTTTCTAGGGGTGGAGGATGGGAGTCACCCCTAGAAACAGAGGAGGCCCTGCCCGGGCCGAGCAGGTGAAGGTGCTCTCCCCATGAACTGGCAGCAGGTTTTTTGTCTGTTTGTTTTTTGTGTTTTTTTGAGACAGGGTCTCACTGTCACCCAGGCTGAGTGCAGTGGCACACTCACGGCTTATCGTAGCCTCGACCTCCCGGGCTCAAGTGATTCTCCCACATCAGTCCCCTGAGTAGCTGGGACCACAGGCACGCACCACCATGCCAGGCAATTTTTAATTTTTAACTTTTTGTAGAGACGAGGTCTCACTATGTTGACCAGGCTGGTCTCAAACTCCTGGCCTCAAGCAATCCATCTGTCTAGGCCTCCCAAAGTGCTGGGATTACAGGCACGAGCCACTGTGCCCAGATGCTGGTAGCAGGTTTTATTCCACAAAGTTCAGGCATTAGTGTACTCTGCCATGATTTCAACCAGGTCAGCAGATCACCGCAACTACCATCGATCTATATTTTTGTTATAAACTCATGATTTCTTATAAACTCAAGATATTACTTTTGTCCTAAGCAACAAAAGTCTGTGTGATCACAGATAATGAAACCACAGTGGAGAAAAATGTTTCCCCAGCTACGTTTCCCCAGTGGTATTTGCACTGTCTGCTGGTTTGACTTTCAGAGAGGGTCCAAGCCCGTCAGGCACTCTCTCTCTCGCCCGGCCAAGGTGAAGCCCGTCCGTGAACCATGAACTCACGAACTCAGTGTCCAGCCCTCATCACAGCAACCTGCTCACCTAGGGGCAGTGTCTGCCCGTCTGTTGCTCAAAGCTCTAGTCCCGGGGCACTGTGCATGTTTGCTGTAGAAGAGGCCCGTGCCTGGCAGGGCATGGTGGCTCACGCCCATAATACCAACTTTTTTGGGAGGCTAAGGCAGGCAGATCACTTGAGGTCAAGAGTTCAAGACCAGCCTGGCCAACATGGTGAAACCCCATCTCTACTAAAAATACAAAATAATTAGCTGGC
Task1_train_27643
Located on Chromosome 20, this mutation impacts SLC4A11 (solute carrier family 4 member 11). What is its biological consequence — is it benign or pathogenic, and which disease is associated if any?
Pathogenic; Congenital hereditary endothelial dystrophy of cornea
CTGGACGAGCTGGTTGCCATCGAGGGAGGTGAGCGCGATGTAGAGGAAGAGGCCATAGAGCACGGGCTTGGGGATCCACTGAAGCGGGACCGGCAGCAGCAACAGGGACAGGCCCACCAGGACGCTGGCGCCCAGCGAGGTCAGCCGCGTCTCCTTCACGTTCACAATCCTGCGGTGGCCCGAGCCGCGAGTGTCACCTCTGCGCCCCTGTCCACAGGGCCTCACTCCTCCCTATGTCCCATGTGGCCAGAGGCTCCCCACTCCTCAGGGTCCACGGCTCTTGCCAGCCTCACACTCACGTGTCATAGATGTGTCCGTTCTCCACACGCTCCTCCACTAAGGCCAGGGCTCGCACGTGCAGCGGGGAGTGGGGGTAGGCGGCATGGATCCAAGGCAGCCCAAACAGAGACAGCCCTGTGTTGATGATGGCGAGGAGCAGGAGGTCCCAGTGGTAGGCAGTGCCCTTCACCAGCCTGCAGCAGACGGGCACTCGTGGACAGAGCCCCACAGCAGAGGCCCGGGCCCCGCCCACCCCACCCTCACCCACCCTCCACACCTGTTCTCCGGTGCATTCACCAAGGCGGCCACCAAGTTCTGCTCGATGAAGAAGAGCATGGACAGCAGGAAGCCGAGGCCCATGGCACCGCTGACGGCCCTCAGGGACAGCGACTGGATCTGCGCCATCGCAAAGGGGCTCTCGCTGGGGTTGTAGCGGAACTTGCTCACTGCAGTAGGGGACAGGCTACTGCTATGCCTGCAGCGCCTGGGGAGCTACCCCACGTCACCCACCGCCCGGCCCCAACTCACTCTCGATTTCCCGGAAGCCATGGGAGCTGATGAGGGAGAAGGCGAGCACCGCGATGGGCAGGGCGCAGTCGGACAGGATCTCTCGCACGCAGGGGTGCAGGTAGGGGCTGGGGACAGCAGGTGCATGAGCACAGCCTTTGACCCATGCGGCCCCTCCCCTCCCCATGCAGCCCCTCACCTCTTCTTGAATTGGTAGAGGGTGTAGCCCAGCCAGAGCGTGCCCAGCATGATGAGGAGGCTGAGCACGGCGGTCGCCTGGCCTGAGTGTGTGGCCGAGGGCAGCTCCGTGGGGCTGGCGAGGAAGCTGGCGTTGAGGGCAGTGTGGAGGCTGGCGTTGAGGCTGGCGCCGAGGCCTGACAGGCTGACAAGGGATGAAGTCCTTTTTGTGTGATAGTCGTCCAAGTAATGCCCATAGTAGTACTTCCAGAAGACTGTGGACACACACCCACAGGCCTCAGCCCTCTCCAGCGTGTGGCAGGGGGAGGCCCTGGAGGGAGGGGATCTCAGGGAGAAAGGGCTCCAGGGGGAAGGTGAGGGGACCCTGCCGACGTGCCCATGCACCCACACTCCTGCCCACTGTCCCTGTCCCATCTCTGACACCCCATCACAGTCGGCCCAGTGCCTCTGCCCCCACGGCTGGTCCCACCTGGGGCGGCCCCGTCACCCTCCAGCGTGGAGGGCTCTGCCCTCTGCCAGCCCAAGGCTCCCAGAGCACCGCACCCTTGATCACGGGCACACACTCAGCTTGAGCCAGTCCTATGTGCCCCCAGCCAGGGGCAGTGCAGAACCTCCCATCTCGGCTGAGCGCCCTGTTCAGCAGGTGGCCCCCAGCCGCACTCACTTTTAACCGTGCCCTTGACGGCATCCAGCACAAACGTGATGGAAATGAAGAGGGCGATGATCTCCTCCGTCGACCTGCCAGGAGGCCATGAGCCTCATCAGAGTGGGTGTGGTCAGGGGGCAGGTGGGGGAGGCCTCCCTGAGCCCCTGCACAGTCCCCTGCCTCCCCCTGCCAGGAAGAAGGCCAGGGCCCCAGGCCTTGCCTGAGCCCACCCCAGCCCCTTGGGGCAGCAATATGGTGGGGGCACCCCCACCACCCTGGGGTTACAGGGGGCTGAACCAGATCCCAAGCCTTGAGGGTCCCAGCAGCTCACGGAAGGGCCAGTCACCTCTTGAAGAGACTCATGACCAGGCTGAGGTTGAAAAAGGCATAAAGCGCAAGGAAGAAACTATTCCACAGGCCCGTCCATGCGTAGAAGGAGTTGAAGTCCAGGTCATAGTCATCACAGATGACACGAATCACTGCAGGCAGGGGGCAGGGCGGGTCAGGGCCCGGCAGGAACCAGGGGTCTCAGGCACCATCTCCCGCCTCAGCCCCCACTGCACCCTGGATGTAGAGCGCCAGGGGCGCGGTGGTCAGCAGAATCACCAATGGCTGCCCAGAGAAGAGCGCGTAGAGCAGGCCCCCGATGCTCTGCCCGGCTATGGTCTTCTGCACGTCTGTGGGGGTGCGGAGGTCAGGTGGGCGCCGCAGCCCAGGGCCCAGCCCAGCATACCCCCACCCACCGCCCACCGCCAGCCCCTCACCGATGGCCCCGTCTGTGTTCTCGTCATTGAGAGACCCGAAAGCGATGGTGGGCAGGAGGCAGGCGAAGTAGAGGAACAGGGTGGTGGTGATGTATTTGCCCACAGCCTTGTTTTTCCCAATAATGCCTAGGAATGGGGGATGGGAGAGAGGGTTTGCTGGGGATGCAGGACAGGCACACGTGTGGGCCCAAGGCCTGGAAAGCAGAGGCCACGTACCATCAGTGAAGTCCAAGGGGTACAAGGGGAACCTGCGTGCGATGTCCTCCCGGATGCCCTTCCCAAAAGGGACAAAGTCCTTGCACTTTGGGGGCTGGAGGAGAGGACAGAGCGCCTGTTAGCCCTGTCCGGCCCATGCCCCCGCCGACCCTGCCGGCCCCCGCCGGCCTCTACCCTGTACCTCTGGGTGTCTGTGGGCAGGGAGGGAGACTGTGCTGCGTTCCTTCGTTCTCGGCGCCACTGGACCGTGGCTCACCATGGTGAGCAGCTGTCTCTGATGCACCAAGGCCTCCTTGAATTCCTCCTCTGTGCGGGTCTCCAGGAGCTTCTGGCGGAAGGCGATATCCGAGAACATGGTGGCAAACGTGCGCGCCACCTCCATCGCAGTCTTAGTGCTTTTCTAGGGGTGGAGGATGGGAGTCACCCCTAGAAACAGAGGAGGCCCTGCCCGGGCCGAGCAGGTGAAGGTGCTCTCCCCATGAACTGGCAGCAGGTTTTTTGTCTGTTTGTTTTTTGTGTTTTTTTGAGACAGGGTCTCACTGTCACCCAGGCTGAGTGCAGTGGCACACTCACGGCTTATCGTAGCCTCGACCTCCCGGGCTCAAGTGATTCTCCCACATCAGTCCCCTGAGTAGCTGGGACCACAGGCACGCACCACCATGCCAGGCAATTTTTAATTTTTAACTTTTTGTAGAGACGAGGTCTCACTATGTTGACCAGGCTGGTCTCAAACTCCTGGCCTCAAGCAATCCATCTGTCTAGGCCTCCCAAAGTGCTGGGATTACAGGCACGAGCCACTGTGCCCAGATGCTGGTAGCAGGTTTTATTCCACAAAGTTCAGGCATTAGTGTACTCTGCCATGATTTCAACCAGGTCAGCAGATCACCGCAACTACCATCGATCTATATTTTTGTTATAAACTCATGATTTCTTATAAACTCAAGATATTACTTTTGTCCTAAGCAACAAAAGTCTGTGTGATCACAGATAATGAAACCACAGTGGAGAAAAATGTTTCCCCAGCTACGTTTCCCCAGTGGTATTTGCACTGTCTGCTGGTTTGACTTTCAGAGAGGGTCCAAGCCCGTCAGGCACTCTCTCTCTCGCCCGGCCAAGGTGAAGCCCGTCCGTGAACCATGAACTCACGAACTCAGTGTCCAGCCCTCATCACAGCAACCTGCTCACCTAGGGGCAGTGTCTGCCCGTCTGTTGCTCAAAGCTCTAGTCCCGGGGCACTGTGCATGTTTGCTGTAGAAGAGGCCCGTGCCTGGCAGGGCATGGTGGCTCACGCCCATAATACCAACTTTTTTGGGAGGCTAAGGCAGGCAGATCACTTGAGGTCAAGAGTTCAAGACCAGCCTGGCCAACATGGTGAAACCCCATCTCTACTAAAAATACAAAATAATTAGCTGGCTGTAGTTTTTGGTGGTGGCGGGTGCCTGTAGTCACAGCTACTTGGGAGGCTGAGGCGGGAGAATCGCTTGAA
CTGGACGAGCTGGTTGCCATCGAGGGAGGTGAGCGCGATGTAGAGGAAGAGGCCATAGAGCACGGGCTTGGGGATCCACTGAAGCGGGACCGGCAGCAGCAACAGGGACAGGCCCACCAGGACGCTGGCGCCCAGCGAGGTCAGCCGCGTCTCCTTCACGTTCACAATCCTGCGGTGGCCCGAGCCGCGAGTGTCACCTCTGCGCCCCTGTCCACAGGGCCTCACTCCTCCCTATGTCCCATGTGGCCAGAGGCTCCCCACTCCTCAGGGTCCACGGCTCTTGCCAGCCTCACACTCACGTGTCATAGATGTGTCCGTTCTCCACACGCTCCTCCACTAAGGCCAGGGCTCGCACGTGCAGCGGGGAGTGGGGGTAGGCGGCATGGATCCAAGGCAGCCCAAACAGAGACAGCCCTGTGTTGATGATGGCGAGGAGCAGGAGGTCCCAGTGGTAGGCAGTGCCCTTCACCAGCCTGCAGCAGACGGGCACTCGTGGACAGAGCCCCACAGCAGAGGCCCGGGCCCCGCCCACCCCACCCTCACCCACCCTCCACACCTGTTCTCCGGTGCATTCACCAAGGCGGCCACCAAGTTCTGCTCGATGAAGAAGAGCATGGACAGCAGGAAGCCGAGGCCCATGGCACCGCTGACGGCCCTCAGGGACAGCGACTGGATCTGCGCCATCGCAAAGGGGCTCTCGCTGGGGTTGTAGCGGAACTTGCTCACTGCAGTAGGGGACAGGCTACTGCTATGCCTGCAGCGCCTGGGGAGCTACCCCACGTCACCCACCGCCCGGCCCCAACTCACTCTCGATTTCCCGGAAGCCATGGGAGCTGATGAGGGAGAAGGCGAGCACCGCGATGGGCAGGGCGCAGTCGGACAGGATCTCTCGCACGCAGGGGTGCAGGTAGGGGCTGGGGACAGCAGGTGCATGAGCACAGCCTTTGACCCATGCGGCCCCTCCCCTCCCCATGCAGCCCCTCACCTCTTCTTGAATTGGTAGAGGGTGTAGCCCAGCCAGAGCGTGCCCAGCATGATGAGGAGGCTGAGCACGGCGGTCGCCTGGCCTGAGTGTGTGGCCGAGGGCAGCTCCGTGGGGCTGGCGAGGAAGCTGGCGTTGAGGGCAGTGTGGAGGCTGGCGTTGAGGCTGGCGCCGAGGCCTGACAGGCTGACAAGGGATGAAGTCCTTTTTGTGTGATAGTCGTCCAAGTAATGCCCATAGTAGTACTTCCAGAAGACTGTGGACACACACCCACAGGCCTCAGCCCTCTCCAGCGTGTGGCAGGGGGAGGCCCTGGAGGGAGGGGATCTCAGGGAGAAAGGGCTCCAGGGGGAAGGTGAGGGGACCCTGCCGACGTGCCCATGCACCCACACTCCTGCCCACTGTCCCTGTCCCATCTCTGACACCCCATCACAGTCGGCCCAGTGCCTCTGCCCCCACGGCTGGTCCCACCTGGGGCGGCCCCGTCACCCTCCAGCGTGGAGGGCTCTGCCCTCTGCCAGCCCAAGGCTCCCAGAGCACCGCACCCTTGATCACGGGCACACACTCAGCTTGAGCCAGTCCTATGTGCCCCCAGCCAGGGGCAGTGCAGAACCTCCCATCTCGGCTGAGCGCCCTGTTCAGCAGGTGGCCCCCAGCCGCACTCACTTTTAACCGTGCCCTTGACGGCATCCAGCACAAACGTGATGGAAATGAAGAGGGCGATGATCTCCTCCGTCGACCTGCCAGGAGGCCATGAGCCTCATCAGAGTGGGTGTGGTCAGGGGGCAGGTGGGGGAGGCCTCCCTGAGCCCCTGCACAGTCCCCTGCCTCCCCCTGCCAGGAAGAAGGCCAGGGCCCCAGGCCTTGCCTGAGCCCACCCCAGCCCCTTGGGGCAGCAATATGGTGGGGGCACCCCCACCACCCTGGGGTTACAGGGGGCTGAACCAGATCCCAAGCCTTGAGGGTCCCAGCAGCTCACGGAAGGGCCAGTCACCTCTTGAAGAGACTCATGACCAGGCTGAGGTTGAAAAAGGCATAAAGCGCAAGGAAGAAACTATTCCACAGGTCCGTCCATGCGTAGAAGGAGTTGAAGTCCAGGTCATAGTCATCACAGATGACACGAATCACTGCAGGCAGGGGGCAGGGCGGGTCAGGGCCCGGCAGGAACCAGGGGTCTCAGGCACCATCTCCCGCCTCAGCCCCCACTGCACCCTGGATGTAGAGCGCCAGGGGCGCGGTGGTCAGCAGAATCACCAATGGCTGCCCAGAGAAGAGCGCGTAGAGCAGGCCCCCGATGCTCTGCCCGGCTATGGTCTTCTGCACGTCTGTGGGGGTGCGGAGGTCAGGTGGGCGCCGCAGCCCAGGGCCCAGCCCAGCATACCCCCACCCACCGCCCACCGCCAGCCCCTCACCGATGGCCCCGTCTGTGTTCTCGTCATTGAGAGACCCGAAAGCGATGGTGGGCAGGAGGCAGGCGAAGTAGAGGAACAGGGTGGTGGTGATGTATTTGCCCACAGCCTTGTTTTTCCCAATAATGCCTAGGAATGGGGGATGGGAGAGAGGGTTTGCTGGGGATGCAGGACAGGCACACGTGTGGGCCCAAGGCCTGGAAAGCAGAGGCCACGTACCATCAGTGAAGTCCAAGGGGTACAAGGGGAACCTGCGTGCGATGTCCTCCCGGATGCCCTTCCCAAAAGGGACAAAGTCCTTGCACTTTGGGGGCTGGAGGAGAGGACAGAGCGCCTGTTAGCCCTGTCCGGCCCATGCCCCCGCCGACCCTGCCGGCCCCCGCCGGCCTCTACCCTGTACCTCTGGGTGTCTGTGGGCAGGGAGGGAGACTGTGCTGCGTTCCTTCGTTCTCGGCGCCACTGGACCGTGGCTCACCATGGTGAGCAGCTGTCTCTGATGCACCAAGGCCTCCTTGAATTCCTCCTCTGTGCGGGTCTCCAGGAGCTTCTGGCGGAAGGCGATATCCGAGAACATGGTGGCAAACGTGCGCGCCACCTCCATCGCAGTCTTAGTGCTTTTCTAGGGGTGGAGGATGGGAGTCACCCCTAGAAACAGAGGAGGCCCTGCCCGGGCCGAGCAGGTGAAGGTGCTCTCCCCATGAACTGGCAGCAGGTTTTTTGTCTGTTTGTTTTTTGTGTTTTTTTGAGACAGGGTCTCACTGTCACCCAGGCTGAGTGCAGTGGCACACTCACGGCTTATCGTAGCCTCGACCTCCCGGGCTCAAGTGATTCTCCCACATCAGTCCCCTGAGTAGCTGGGACCACAGGCACGCACCACCATGCCAGGCAATTTTTAATTTTTAACTTTTTGTAGAGACGAGGTCTCACTATGTTGACCAGGCTGGTCTCAAACTCCTGGCCTCAAGCAATCCATCTGTCTAGGCCTCCCAAAGTGCTGGGATTACAGGCACGAGCCACTGTGCCCAGATGCTGGTAGCAGGTTTTATTCCACAAAGTTCAGGCATTAGTGTACTCTGCCATGATTTCAACCAGGTCAGCAGATCACCGCAACTACCATCGATCTATATTTTTGTTATAAACTCATGATTTCTTATAAACTCAAGATATTACTTTTGTCCTAAGCAACAAAAGTCTGTGTGATCACAGATAATGAAACCACAGTGGAGAAAAATGTTTCCCCAGCTACGTTTCCCCAGTGGTATTTGCACTGTCTGCTGGTTTGACTTTCAGAGAGGGTCCAAGCCCGTCAGGCACTCTCTCTCTCGCCCGGCCAAGGTGAAGCCCGTCCGTGAACCATGAACTCACGAACTCAGTGTCCAGCCCTCATCACAGCAACCTGCTCACCTAGGGGCAGTGTCTGCCCGTCTGTTGCTCAAAGCTCTAGTCCCGGGGCACTGTGCATGTTTGCTGTAGAAGAGGCCCGTGCCTGGCAGGGCATGGTGGCTCACGCCCATAATACCAACTTTTTTGGGAGGCTAAGGCAGGCAGATCACTTGAGGTCAAGAGTTCAAGACCAGCCTGGCCAACATGGTGAAACCCCATCTCTACTAAAAATACAAAATAATTAGCTGGCTGTAGTTTTTGGTGGTGGCGGGTGCCTGTAGTCACAGCTACTTGGGAGGCTGAGGCGGGAGAATCGCTTGAA
Task1_train_27644
Consider this mutation in SLC4A11 (solute carrier family 4 member 11) on Chromosome 20. Is this a benign change or a disease-causing variant?
Pathogenic; not provided
AGACAGCCCTGTGTTGATGATGGCGAGGAGCAGGAGGTCCCAGTGGTAGGCAGTGCCCTTCACCAGCCTGCAGCAGACGGGCACTCGTGGACAGAGCCCCACAGCAGAGGCCCGGGCCCCGCCCACCCCACCCTCACCCACCCTCCACACCTGTTCTCCGGTGCATTCACCAAGGCGGCCACCAAGTTCTGCTCGATGAAGAAGAGCATGGACAGCAGGAAGCCGAGGCCCATGGCACCGCTGACGGCCCTCAGGGACAGCGACTGGATCTGCGCCATCGCAAAGGGGCTCTCGCTGGGGTTGTAGCGGAACTTGCTCACTGCAGTAGGGGACAGGCTACTGCTATGCCTGCAGCGCCTGGGGAGCTACCCCACGTCACCCACCGCCCGGCCCCAACTCACTCTCGATTTCCCGGAAGCCATGGGAGCTGATGAGGGAGAAGGCGAGCACCGCGATGGGCAGGGCGCAGTCGGACAGGATCTCTCGCACGCAGGGGTGCAGGTAGGGGCTGGGGACAGCAGGTGCATGAGCACAGCCTTTGACCCATGCGGCCCCTCCCCTCCCCATGCAGCCCCTCACCTCTTCTTGAATTGGTAGAGGGTGTAGCCCAGCCAGAGCGTGCCCAGCATGATGAGGAGGCTGAGCACGGCGGTCGCCTGGCCTGAGTGTGTGGCCGAGGGCAGCTCCGTGGGGCTGGCGAGGAAGCTGGCGTTGAGGGCAGTGTGGAGGCTGGCGTTGAGGCTGGCGCCGAGGCCTGACAGGCTGACAAGGGATGAAGTCCTTTTTGTGTGATAGTCGTCCAAGTAATGCCCATAGTAGTACTTCCAGAAGACTGTGGACACACACCCACAGGCCTCAGCCCTCTCCAGCGTGTGGCAGGGGGAGGCCCTGGAGGGAGGGGATCTCAGGGAGAAAGGGCTCCAGGGGGAAGGTGAGGGGACCCTGCCGACGTGCCCATGCACCCACACTCCTGCCCACTGTCCCTGTCCCATCTCTGACACCCCATCACAGTCGGCCCAGTGCCTCTGCCCCCACGGCTGGTCCCACCTGGGGCGGCCCCGTCACCCTCCAGCGTGGAGGGCTCTGCCCTCTGCCAGCCCAAGGCTCCCAGAGCACCGCACCCTTGATCACGGGCACACACTCAGCTTGAGCCAGTCCTATGTGCCCCCAGCCAGGGGCAGTGCAGAACCTCCCATCTCGGCTGAGCGCCCTGTTCAGCAGGTGGCCCCCAGCCGCACTCACTTTTAACCGTGCCCTTGACGGCATCCAGCACAAACGTGATGGAAATGAAGAGGGCGATGATCTCCTCCGTCGACCTGCCAGGAGGCCATGAGCCTCATCAGAGTGGGTGTGGTCAGGGGGCAGGTGGGGGAGGCCTCCCTGAGCCCCTGCACAGTCCCCTGCCTCCCCCTGCCAGGAAGAAGGCCAGGGCCCCAGGCCTTGCCTGAGCCCACCCCAGCCCCTTGGGGCAGCAATATGGTGGGGGCACCCCCACCACCCTGGGGTTACAGGGGGCTGAACCAGATCCCAAGCCTTGAGGGTCCCAGCAGCTCACGGAAGGGCCAGTCACCTCTTGAAGAGACTCATGACCAGGCTGAGGTTGAAAAAGGCATAAAGCGCAAGGAAGAAACTATTCCACAGGCCCGTCCATGCGTAGAAGGAGTTGAAGTCCAGGTCATAGTCATCACAGATGACACGAATCACTGCAGGCAGGGGGCAGGGCGGGTCAGGGCCCGGCAGGAACCAGGGGTCTCAGGCACCATCTCCCGCCTCAGCCCCCACTGCACCCTGGATGTAGAGCGCCAGGGGCGCGGTGGTCAGCAGAATCACCAATGGCTGCCCAGAGAAGAGCGCGTAGAGCAGGCCCCCGATGCTCTGCCCGGCTATGGTCTTCTGCACGTCTGTGGGGGTGCGGAGGTCAGGTGGGCGCCGCAGCCCAGGGCCCAGCCCAGCATACCCCCACCCACCGCCCACCGCCAGCCCCTCACCGATGGCCCCGTCTGTGTTCTCGTCATTGAGAGACCCGAAAGCGATGGTGGGCAGGAGGCAGGCGAAGTAGAGGAACAGGGTGGTGGTGATGTATTTGCCCACAGCCTTGTTTTTCCCAATAATGCCTAGGAATGGGGGATGGGAGAGAGGGTTTGCTGGGGATGCAGGACAGGCACACGTGTGGGCCCAAGGCCTGGAAAGCAGAGGCCACGTACCATCAGTGAAGTCCAAGGGGTACAAGGGGAACCTGCGTGCGATGTCCTCCCGGATGCCCTTCCCAAAAGGGACAAAGTCCTTGCACTTTGGGGGCTGGAGGAGAGGACAGAGCGCCTGTTAGCCCTGTCCGGCCCATGCCCCCGCCGACCCTGCCGGCCCCCGCCGGCCTCTACCCTGTACCTCTGGGTGTCTGTGGGCAGGGAGGGAGACTGTGCTGCGTTCCTTCGTTCTCGGCGCCACTGGACCGTGGCTCACCATGGTGAGCAGCTGTCTCTGATGCACCAAGGCCTCCTTGAATTCCTCCTCTGTGCGGGTCTCCAGGAGCTTCTGGCGGAAGGCGATATCCGAGAACATGGTGGCAAACGTGCGCGCCACCTCCATCGCAGTCTTAGTGCTTTTCTAGGGGTGGAGGATGGGAGTCACCCCTAGAAACAGAGGAGGCCCTGCCCGGGCCGAGCAGGTGAAGGTGCTCTCCCCATGAACTGGCAGCAGGTTTTTTGTCTGTTTGTTTTTTGTGTTTTTTTGAGACAGGGTCTCACTGTCACCCAGGCTGAGTGCAGTGGCACACTCACGGCTTATCGTAGCCTCGACCTCCCGGGCTCAAGTGATTCTCCCACATCAGTCCCCTGAGTAGCTGGGACCACAGGCACGCACCACCATGCCAGGCAATTTTTAATTTTTAACTTTTTGTAGAGACGAGGTCTCACTATGTTGACCAGGCTGGTCTCAAACTCCTGGCCTCAAGCAATCCATCTGTCTAGGCCTCCCAAAGTGCTGGGATTACAGGCACGAGCCACTGTGCCCAGATGCTGGTAGCAGGTTTTATTCCACAAAGTTCAGGCATTAGTGTACTCTGCCATGATTTCAACCAGGTCAGCAGATCACCGCAACTACCATCGATCTATATTTTTGTTATAAACTCATGATTTCTTATAAACTCAAGATATTACTTTTGTCCTAAGCAACAAAAGTCTGTGTGATCACAGATAATGAAACCACAGTGGAGAAAAATGTTTCCCCAGCTACGTTTCCCCAGTGGTATTTGCACTGTCTGCTGGTTTGACTTTCAGAGAGGGTCCAAGCCCGTCAGGCACTCTCTCTCTCGCCCGGCCAAGGTGAAGCCCGTCCGTGAACCATGAACTCACGAACTCAGTGTCCAGCCCTCATCACAGCAACCTGCTCACCTAGGGGCAGTGTCTGCCCGTCTGTTGCTCAAAGCTCTAGTCCCGGGGCACTGTGCATGTTTGCTGTAGAAGAGGCCCGTGCCTGGCAGGGCATGGTGGCTCACGCCCATAATACCAACTTTTTTGGGAGGCTAAGGCAGGCAGATCACTTGAGGTCAAGAGTTCAAGACCAGCCTGGCCAACATGGTGAAACCCCATCTCTACTAAAAATACAAAATAATTAGCTGGCTGTAGTTTTTGGTGGTGGCGGGTGCCTGTAGTCACAGCTACTTGGGAGGCTGAGGCGGGAGAATCGCTTGAACCTGGGAGGCAGAGGTTGCAGTGAGCTGAGATCACACCTCAACATTCCAGCCTGGGTGACAGAGTGAGACTCTGTCTCAAAGATAAATAAATAAAACAAACAAATAAACAAATACAAAACCCCAAAAGAACTAGTCCATGCTCCTGAGGAGGAGCCCAGTGTCGGGCTGGGGGATCTGCCTCAAGGCACCAGGCTTTAACTCAGCTCTGGGCTATTGCTCCTTCTGTGTGGGCACCCTGCTGGGGGCCACTCCTTCCAACCCAGGGGCTGCCCTTCCTCTCACACCAGCACAGTTGCATTTGTGGAGGTTCCCGCCATGTCTGAGATCCCTGAGAACCCCATTTGCACACAGAAGGCCAGGGGCAGGAGCACAAGAAGCTAAGGGAAGCTGAAGCTGAAGGCGCTG
AGACAGCCCTGTGTTGATGATGGCGAGGAGCAGGAGGTCCCAGTGGTAGGCAGTGCCCTTCACCAGCCTGCAGCAGACGGGCACTCGTGGACAGAGCCCCACAGCAGAGGCCCGGGCCCCGCCCACCCCACCCTCACCCACCCTCCACACCTGTTCTCCGGTGCATTCACCAAGGCGGCCACCAAGTTCTGCTCGATGAAGAAGAGCATGGACAGCAGGAAGCCGAGGCCCATGGCACCGCTGACGGCCCTCAGGGACAGCGACTGGATCTGCGCCATCGCAAAGGGGCTCTCGCTGGGGTTGTAGCGGAACTTGCTCACTGCAGTAGGGGACAGGCTACTGCTATGCCTGCAGCGCCTGGGGAGCTACCCCACGTCACCCACCGCCCGGCCCCAACTCACTCTCGATTTCCCGGAAGCCATGGGAGCTGATGAGGGAGAAGGCGAGCACCGCGATGGGCAGGGCGCAGTCGGACAGGATCTCTCGCACGCAGGGGTGCAGGTAGGGGCTGGGGACAGCAGGTGCATGAGCACAGCCTTTGACCCATGCGGCCCCTCCCCTCCCCATGCAGCCCCTCACCTCTTCTTGAATTGGTAGAGGGTGTAGCCCAGCCAGAGCGTGCCCAGCATGATGAGGAGGCTGAGCACGGCGGTCGCCTGGCCTGAGTGTGTGGCCGAGGGCAGCTCCGTGGGGCTGGCGAGGAAGCTGGCGTTGAGGGCAGTGTGGAGGCTGGCGTTGAGGCTGGCGCCGAGGCCTGACAGGCTGACAAGGGATGAAGTCCTTTTTGTGTGATAGTCGTCCAAGTAATGCCCATAGTAGTACTTCCAGAAGACTGTGGACACACACCCACAGGCCTCAGCCCTCTCCAGCGTGTGGCAGGGGGAGGCCCTGGAGGGAGGGGATCTCAGGGAGAAAGGGCTCCAGGGGGAAGGTGAGGGGACCCTGCCGACGTGCCCATGCACCCACACTCCTGCCCACTGTCCCTGTCCCATCTCTGACACCCCATCACAGTCGGCCCAGTGCCTCTGCCCCCACGGCTGGTCCCACCTGGGGCGGCCCCGTCACCCTCCAGCGTGGAGGGCTCTGCCCTCTGCCAGCCCAAGGCTCCCAGAGCACCGCACCCTTGATCACGGGCACACACTCAGCTTGAGCCAGTCCTATGTGCCCCCAGCCAGGGGCAGTGCAGAACCTCCCATCTCGGCTGAGCGCCCTGTTCAGCAGGTGGCCCCCAGCCGCACTCACTTTTAACCGTGCCCTTGACGGCATCCAGCACAAACGTGATGGAAATGAAGAGGGCGATGATCTCCTCCGTCGACCTGCCAGGAGGCCATGAGCCTCATCAGAGTGGGTGTGGTCAGGGGGCAGGTGGGGGAGGCCTCCCTGAGCCCCTGCACAGTCCCCTGCCTCCCCCTGCCAGGAAGAAGGCCAGGGCCCCAGGCCTTGCCTGAGCCCACCCCAGCCCCTTGGGGCAGCAATATGGTGGGGGCACCCCCACCACCCTGGGGTTACAGGGGGCTGAACCAGATCCCAAGCCTTGAGGGTCCCAGCAGCTCACGGAAGGGCCAGTCACCTCTTGAAGAGACTCATGACCAGGCTGAGGTTGAAAAAGGCATAAAGCGCAAGGAAGAAACTATTCCACAGGCCCGTCCATGCGTAGAAGGAGTTGAAGTCCAGGTCATAGTCATCACAGATGACACGAATCACTGCAGGCAGGGGGCAGGGCGGGTCAGGGCCCGGCAGGAACCAGGGGTCTCAGGCACCATCTCCCGCCTCAGCCCCCACTGCACCCTGGATGTAGAGCGCCAGGGGCGCGGTGGTCAGCAGAATCACCAATGGCTGCCCAGAGAAGAGCGCGTAGAGCAGGCCCCCGATGCTCTGCCCGGCTATGGTCTTCTGCACGTCTGTGGGGGTGCGGAGGTCAGGTGGGCGCCGCAGCCCAGGGCCCAGCCCAGCATACCCCCACCCACCGCCCACCGCCAGCCCCTCACCGATGGCCCCGTCTGTGTTCTCGTCATTGAGAGACCCGAAAGCGATGGTGGGCAGGAGGCGGGCGAAGTAGAGGAACAGGGTGGTGGTGATGTATTTGCCCACAGCCTTGTTTTTCCCAATAATGCCTAGGAATGGGGGATGGGAGAGAGGGTTTGCTGGGGATGCAGGACAGGCACACGTGTGGGCCCAAGGCCTGGAAAGCAGAGGCCACGTACCATCAGTGAAGTCCAAGGGGTACAAGGGGAACCTGCGTGCGATGTCCTCCCGGATGCCCTTCCCAAAAGGGACAAAGTCCTTGCACTTTGGGGGCTGGAGGAGAGGACAGAGCGCCTGTTAGCCCTGTCCGGCCCATGCCCCCGCCGACCCTGCCGGCCCCCGCCGGCCTCTACCCTGTACCTCTGGGTGTCTGTGGGCAGGGAGGGAGACTGTGCTGCGTTCCTTCGTTCTCGGCGCCACTGGACCGTGGCTCACCATGGTGAGCAGCTGTCTCTGATGCACCAAGGCCTCCTTGAATTCCTCCTCTGTGCGGGTCTCCAGGAGCTTCTGGCGGAAGGCGATATCCGAGAACATGGTGGCAAACGTGCGCGCCACCTCCATCGCAGTCTTAGTGCTTTTCTAGGGGTGGAGGATGGGAGTCACCCCTAGAAACAGAGGAGGCCCTGCCCGGGCCGAGCAGGTGAAGGTGCTCTCCCCATGAACTGGCAGCAGGTTTTTTGTCTGTTTGTTTTTTGTGTTTTTTTGAGACAGGGTCTCACTGTCACCCAGGCTGAGTGCAGTGGCACACTCACGGCTTATCGTAGCCTCGACCTCCCGGGCTCAAGTGATTCTCCCACATCAGTCCCCTGAGTAGCTGGGACCACAGGCACGCACCACCATGCCAGGCAATTTTTAATTTTTAACTTTTTGTAGAGACGAGGTCTCACTATGTTGACCAGGCTGGTCTCAAACTCCTGGCCTCAAGCAATCCATCTGTCTAGGCCTCCCAAAGTGCTGGGATTACAGGCACGAGCCACTGTGCCCAGATGCTGGTAGCAGGTTTTATTCCACAAAGTTCAGGCATTAGTGTACTCTGCCATGATTTCAACCAGGTCAGCAGATCACCGCAACTACCATCGATCTATATTTTTGTTATAAACTCATGATTTCTTATAAACTCAAGATATTACTTTTGTCCTAAGCAACAAAAGTCTGTGTGATCACAGATAATGAAACCACAGTGGAGAAAAATGTTTCCCCAGCTACGTTTCCCCAGTGGTATTTGCACTGTCTGCTGGTTTGACTTTCAGAGAGGGTCCAAGCCCGTCAGGCACTCTCTCTCTCGCCCGGCCAAGGTGAAGCCCGTCCGTGAACCATGAACTCACGAACTCAGTGTCCAGCCCTCATCACAGCAACCTGCTCACCTAGGGGCAGTGTCTGCCCGTCTGTTGCTCAAAGCTCTAGTCCCGGGGCACTGTGCATGTTTGCTGTAGAAGAGGCCCGTGCCTGGCAGGGCATGGTGGCTCACGCCCATAATACCAACTTTTTTGGGAGGCTAAGGCAGGCAGATCACTTGAGGTCAAGAGTTCAAGACCAGCCTGGCCAACATGGTGAAACCCCATCTCTACTAAAAATACAAAATAATTAGCTGGCTGTAGTTTTTGGTGGTGGCGGGTGCCTGTAGTCACAGCTACTTGGGAGGCTGAGGCGGGAGAATCGCTTGAACCTGGGAGGCAGAGGTTGCAGTGAGCTGAGATCACACCTCAACATTCCAGCCTGGGTGACAGAGTGAGACTCTGTCTCAAAGATAAATAAATAAAACAAACAAATAAACAAATACAAAACCCCAAAAGAACTAGTCCATGCTCCTGAGGAGGAGCCCAGTGTCGGGCTGGGGGATCTGCCTCAAGGCACCAGGCTTTAACTCAGCTCTGGGCTATTGCTCCTTCTGTGTGGGCACCCTGCTGGGGGCCACTCCTTCCAACCCAGGGGCTGCCCTTCCTCTCACACCAGCACAGTTGCATTTGTGGAGGTTCCCGCCATGTCTGAGATCCCTGAGAACCCCATTTGCACACAGAAGGCCAGGGGCAGGAGCACAAGAAGCTAAGGGAAGCTGAAGCTGAAGGCGCTG
Task1_train_27645
This variant affects gene SLC4A11 (solute carrier family 4 member 11) located on Chromosome 20. Evaluate its biological effect and specify any disease association.
Pathogenic; Corneal dystrophy-perceptive deafness syndrome
GTGCATGAGCACAGCCTTTGACCCATGCGGCCCCTCCCCTCCCCATGCAGCCCCTCACCTCTTCTTGAATTGGTAGAGGGTGTAGCCCAGCCAGAGCGTGCCCAGCATGATGAGGAGGCTGAGCACGGCGGTCGCCTGGCCTGAGTGTGTGGCCGAGGGCAGCTCCGTGGGGCTGGCGAGGAAGCTGGCGTTGAGGGCAGTGTGGAGGCTGGCGTTGAGGCTGGCGCCGAGGCCTGACAGGCTGACAAGGGATGAAGTCCTTTTTGTGTGATAGTCGTCCAAGTAATGCCCATAGTAGTACTTCCAGAAGACTGTGGACACACACCCACAGGCCTCAGCCCTCTCCAGCGTGTGGCAGGGGGAGGCCCTGGAGGGAGGGGATCTCAGGGAGAAAGGGCTCCAGGGGGAAGGTGAGGGGACCCTGCCGACGTGCCCATGCACCCACACTCCTGCCCACTGTCCCTGTCCCATCTCTGACACCCCATCACAGTCGGCCCAGTGCCTCTGCCCCCACGGCTGGTCCCACCTGGGGCGGCCCCGTCACCCTCCAGCGTGGAGGGCTCTGCCCTCTGCCAGCCCAAGGCTCCCAGAGCACCGCACCCTTGATCACGGGCACACACTCAGCTTGAGCCAGTCCTATGTGCCCCCAGCCAGGGGCAGTGCAGAACCTCCCATCTCGGCTGAGCGCCCTGTTCAGCAGGTGGCCCCCAGCCGCACTCACTTTTAACCGTGCCCTTGACGGCATCCAGCACAAACGTGATGGAAATGAAGAGGGCGATGATCTCCTCCGTCGACCTGCCAGGAGGCCATGAGCCTCATCAGAGTGGGTGTGGTCAGGGGGCAGGTGGGGGAGGCCTCCCTGAGCCCCTGCACAGTCCCCTGCCTCCCCCTGCCAGGAAGAAGGCCAGGGCCCCAGGCCTTGCCTGAGCCCACCCCAGCCCCTTGGGGCAGCAATATGGTGGGGGCACCCCCACCACCCTGGGGTTACAGGGGGCTGAACCAGATCCCAAGCCTTGAGGGTCCCAGCAGCTCACGGAAGGGCCAGTCACCTCTTGAAGAGACTCATGACCAGGCTGAGGTTGAAAAAGGCATAAAGCGCAAGGAAGAAACTATTCCACAGGCCCGTCCATGCGTAGAAGGAGTTGAAGTCCAGGTCATAGTCATCACAGATGACACGAATCACTGCAGGCAGGGGGCAGGGCGGGTCAGGGCCCGGCAGGAACCAGGGGTCTCAGGCACCATCTCCCGCCTCAGCCCCCACTGCACCCTGGATGTAGAGCGCCAGGGGCGCGGTGGTCAGCAGAATCACCAATGGCTGCCCAGAGAAGAGCGCGTAGAGCAGGCCCCCGATGCTCTGCCCGGCTATGGTCTTCTGCACGTCTGTGGGGGTGCGGAGGTCAGGTGGGCGCCGCAGCCCAGGGCCCAGCCCAGCATACCCCCACCCACCGCCCACCGCCAGCCCCTCACCGATGGCCCCGTCTGTGTTCTCGTCATTGAGAGACCCGAAAGCGATGGTGGGCAGGAGGCAGGCGAAGTAGAGGAACAGGGTGGTGGTGATGTATTTGCCCACAGCCTTGTTTTTCCCAATAATGCCTAGGAATGGGGGATGGGAGAGAGGGTTTGCTGGGGATGCAGGACAGGCACACGTGTGGGCCCAAGGCCTGGAAAGCAGAGGCCACGTACCATCAGTGAAGTCCAAGGGGTACAAGGGGAACCTGCGTGCGATGTCCTCCCGGATGCCCTTCCCAAAAGGGACAAAGTCCTTGCACTTTGGGGGCTGGAGGAGAGGACAGAGCGCCTGTTAGCCCTGTCCGGCCCATGCCCCCGCCGACCCTGCCGGCCCCCGCCGGCCTCTACCCTGTACCTCTGGGTGTCTGTGGGCAGGGAGGGAGACTGTGCTGCGTTCCTTCGTTCTCGGCGCCACTGGACCGTGGCTCACCATGGTGAGCAGCTGTCTCTGATGCACCAAGGCCTCCTTGAATTCCTCCTCTGTGCGGGTCTCCAGGAGCTTCTGGCGGAAGGCGATATCCGAGAACATGGTGGCAAACGTGCGCGCCACCTCCATCGCAGTCTTAGTGCTTTTCTAGGGGTGGAGGATGGGAGTCACCCCTAGAAACAGAGGAGGCCCTGCCCGGGCCGAGCAGGTGAAGGTGCTCTCCCCATGAACTGGCAGCAGGTTTTTTGTCTGTTTGTTTTTTGTGTTTTTTTGAGACAGGGTCTCACTGTCACCCAGGCTGAGTGCAGTGGCACACTCACGGCTTATCGTAGCCTCGACCTCCCGGGCTCAAGTGATTCTCCCACATCAGTCCCCTGAGTAGCTGGGACCACAGGCACGCACCACCATGCCAGGCAATTTTTAATTTTTAACTTTTTGTAGAGACGAGGTCTCACTATGTTGACCAGGCTGGTCTCAAACTCCTGGCCTCAAGCAATCCATCTGTCTAGGCCTCCCAAAGTGCTGGGATTACAGGCACGAGCCACTGTGCCCAGATGCTGGTAGCAGGTTTTATTCCACAAAGTTCAGGCATTAGTGTACTCTGCCATGATTTCAACCAGGTCAGCAGATCACCGCAACTACCATCGATCTATATTTTTGTTATAAACTCATGATTTCTTATAAACTCAAGATATTACTTTTGTCCTAAGCAACAAAAGTCTGTGTGATCACAGATAATGAAACCACAGTGGAGAAAAATGTTTCCCCAGCTACGTTTCCCCAGTGGTATTTGCACTGTCTGCTGGTTTGACTTTCAGAGAGGGTCCAAGCCCGTCAGGCACTCTCTCTCTCGCCCGGCCAAGGTGAAGCCCGTCCGTGAACCATGAACTCACGAACTCAGTGTCCAGCCCTCATCACAGCAACCTGCTCACCTAGGGGCAGTGTCTGCCCGTCTGTTGCTCAAAGCTCTAGTCCCGGGGCACTGTGCATGTTTGCTGTAGAAGAGGCCCGTGCCTGGCAGGGCATGGTGGCTCACGCCCATAATACCAACTTTTTTGGGAGGCTAAGGCAGGCAGATCACTTGAGGTCAAGAGTTCAAGACCAGCCTGGCCAACATGGTGAAACCCCATCTCTACTAAAAATACAAAATAATTAGCTGGCTGTAGTTTTTGGTGGTGGCGGGTGCCTGTAGTCACAGCTACTTGGGAGGCTGAGGCGGGAGAATCGCTTGAACCTGGGAGGCAGAGGTTGCAGTGAGCTGAGATCACACCTCAACATTCCAGCCTGGGTGACAGAGTGAGACTCTGTCTCAAAGATAAATAAATAAAACAAACAAATAAACAAATACAAAACCCCAAAAGAACTAGTCCATGCTCCTGAGGAGGAGCCCAGTGTCGGGCTGGGGGATCTGCCTCAAGGCACCAGGCTTTAACTCAGCTCTGGGCTATTGCTCCTTCTGTGTGGGCACCCTGCTGGGGGCCACTCCTTCCAACCCAGGGGCTGCCCTTCCTCTCACACCAGCACAGTTGCATTTGTGGAGGTTCCCGCCATGTCTGAGATCCCTGAGAACCCCATTTGCACACAGAAGGCCAGGGGCAGGAGCACAAGAAGCTAAGGGAAGCTGAAGCTGAAGGCGCTGCCAAGGCCTTGGGAGGGGTCCTGGCAATCATCTGTTGAGACTTGTTAAATCCTTTTCCTTAAAAGACTCCCGAAATTGTATCAGTTCCGGCTCCCACAAAAAGCATGGTGTCCCGGCCAGGGGGTGTGTGGCCCAGGAAGGAGCAGGGACCCTCAGCTAGCAAATCGCAAAGTCAACCAAGTCAAAGAAGGGCTGGCGGGCGGGCAGGCCAGAGAAGGCCGCGTGTTTGAATAGGGATAGTGGTCAAAAGCGTTTCCTTTCAGTCAAGGAAATACGAACTTTTCGGCAATCCCCGGGGACATGAGGACTTGCCGGGCCTAGCAACATGTTTCTGACACACCCACAGGGCCGAGGCGAAGGGGAGGGTGAGGACCAGGCCTTCAGAGGCCAGGACATGTGGGAGGGGACCCCAAGCAGAGGGCGGGTAACCCGGGGCCCTCCTTCTTCCCCAGGACACGGCACTACCCACTCACCATCTTGGGTGGGGCCAGCACCAGGATGACGAACCGAACCTCACAGGA
GTGCATGAGCACAGCCTTTGACCCATGCGGCCCCTCCCCTCCCCATGCAGCCCCTCACCTCTTCTTGAATTGGTAGAGGGTGTAGCCCAGCCAGAGCGTGCCCAGCATGATGAGGAGGCTGAGCACGGCGGTCGCCTGGCCTGAGTGTGTGGCCGAGGGCAGCTCCGTGGGGCTGGCGAGGAAGCTGGCGTTGAGGGCAGTGTGGAGGCTGGCGTTGAGGCTGGCGCCGAGGCCTGACAGGCTGACAAGGGATGAAGTCCTTTTTGTGTGATAGTCGTCCAAGTAATGCCCATAGTAGTACTTCCAGAAGACTGTGGACACACACCCACAGGCCTCAGCCCTCTCCAGCGTGTGGCAGGGGGAGGCCCTGGAGGGAGGGGATCTCAGGGAGAAAGGGCTCCAGGGGGAAGGTGAGGGGACCCTGCCGACGTGCCCATGCACCCACACTCCTGCCCACTGTCCCTGTCCCATCTCTGACACCCCATCACAGTCGGCCCAGTGCCTCTGCCCCCACGGCTGGTCCCACCTGGGGCGGCCCCGTCACCCTCCAGCGTGGAGGGCTCTGCCCTCTGCCAGCCCAAGGCTCCCAGAGCACCGCACCCTTGATCACGGGCACACACTCAGCTTGAGCCAGTCCTATGTGCCCCCAGCCAGGGGCAGTGCAGAACCTCCCATCTCGGCTGAGCGCCCTGTTCAGCAGGTGGCCCCCAGCCGCACTCACTTTTAACCGTGCCCTTGACGGCATCCAGCACAAACGTGATGGAAATGAAGAGGGCGATGATCTCCTCCGTCGACCTGCCAGGAGGCCATGAGCCTCATCAGAGTGGGTGTGGTCAGGGGGCAGGTGGGGGAGGCCTCCCTGAGCCCCTGCACAGTCCCCTGCCTCCCCCTGCCAGGAAGAAGGCCAGGGCCCCAGGCCTTGCCTGAGCCCACCCCAGCCCCTTGGGGCAGCAATATGGTGGGGGCACCCCCACCACCCTGGGGTTACAGGGGGCTGAACCAGATCCCAAGCCTTGAGGGTCCCAGCAGCTCACGGAAGGGCCAGTCACCTCTTGAAGAGACTCATGACCAGGCTGAGGTTGAAAAAGGCATAAAGCGCAAGGAAGAAACTATTCCACAGGCCCGTCCATGCGTAGAAGGAGTTGAAGTCCAGGTCATAGTCATCACAGATGACACGAATCACTGCAGGCAGGGGGCAGGGCGGGTCAGGGCCCGGCAGGAACCAGGGGTCTCAGGCACCATCTCCCGCCTCAGCCCCCACTGCACCCTGGATGTAGAGCGCCAGGGGCGCGGTGGTCAGCAGAATCACCAATGGCTGCCCAGAGAAGAGCGCGTAGAGCAGGCCCCCGATGCTCTGCCCGGCTATGGTCTTCTGCACGTCTGTGGGGGTGCGGAGGTCAGGTGGGCGCCGCAGCCCAGGGCCCAGCCCAGCATACCCCCACCCACCGCCCACCGCCAGCCCCTCACCGATGGCCCCGTCTGTGTTCTCGTCATTGAGAGACCCGAAAGCGATGGTGGGCAGGAGGCAGGCGAAGTAGAGGAACAGGGTGGTGGTGATGTATTTGCCCACAGCCTTGTTTTTCCCAATAATGCCTAGGAATGGGGGATGGGAGAGAGGGTTTGCTGGGGATGCAGGACAGGCACACGTGTGGGCCCAAGGCCTGGAAAGCAGAGGCCACGTACCATCAGTGAAGTCCAAGGGGTACAAGGGGAACCTGCGTGCGATGTCCTCCCGGATGCCCTTCCCAAAAGGGACAAAGTCCTTGCACTTTGGGGGCTGGAGGAGAGGACAGAGCGCCTGTTAGCCCTGTCCGGCCCATGCCCCCGCCGACCCTGCCGGCCCCCGCCGGCCTCTACCCTGTACCTCTGGGTGTCTGTGGGCAGGGAGGGAGACTGTGCTGCGTTCCTTCGTTCTCGGCGCCACTGGACCGTGGCTCACCATGGTGAGCAGCTGTCTCTGATGCACCAAGGCCTCCTTGAATTCCTCCTCTGTGCGGGTCTCCAGGAGCTTCTGGCGGAAGGCGATATCCGAGAACATGGTGGCAAACATGCGCGCCACCTCCATCGCAGTCTTAGTGCTTTTCTAGGGGTGGAGGATGGGAGTCACCCCTAGAAACAGAGGAGGCCCTGCCCGGGCCGAGCAGGTGAAGGTGCTCTCCCCATGAACTGGCAGCAGGTTTTTTGTCTGTTTGTTTTTTGTGTTTTTTTGAGACAGGGTCTCACTGTCACCCAGGCTGAGTGCAGTGGCACACTCACGGCTTATCGTAGCCTCGACCTCCCGGGCTCAAGTGATTCTCCCACATCAGTCCCCTGAGTAGCTGGGACCACAGGCACGCACCACCATGCCAGGCAATTTTTAATTTTTAACTTTTTGTAGAGACGAGGTCTCACTATGTTGACCAGGCTGGTCTCAAACTCCTGGCCTCAAGCAATCCATCTGTCTAGGCCTCCCAAAGTGCTGGGATTACAGGCACGAGCCACTGTGCCCAGATGCTGGTAGCAGGTTTTATTCCACAAAGTTCAGGCATTAGTGTACTCTGCCATGATTTCAACCAGGTCAGCAGATCACCGCAACTACCATCGATCTATATTTTTGTTATAAACTCATGATTTCTTATAAACTCAAGATATTACTTTTGTCCTAAGCAACAAAAGTCTGTGTGATCACAGATAATGAAACCACAGTGGAGAAAAATGTTTCCCCAGCTACGTTTCCCCAGTGGTATTTGCACTGTCTGCTGGTTTGACTTTCAGAGAGGGTCCAAGCCCGTCAGGCACTCTCTCTCTCGCCCGGCCAAGGTGAAGCCCGTCCGTGAACCATGAACTCACGAACTCAGTGTCCAGCCCTCATCACAGCAACCTGCTCACCTAGGGGCAGTGTCTGCCCGTCTGTTGCTCAAAGCTCTAGTCCCGGGGCACTGTGCATGTTTGCTGTAGAAGAGGCCCGTGCCTGGCAGGGCATGGTGGCTCACGCCCATAATACCAACTTTTTTGGGAGGCTAAGGCAGGCAGATCACTTGAGGTCAAGAGTTCAAGACCAGCCTGGCCAACATGGTGAAACCCCATCTCTACTAAAAATACAAAATAATTAGCTGGCTGTAGTTTTTGGTGGTGGCGGGTGCCTGTAGTCACAGCTACTTGGGAGGCTGAGGCGGGAGAATCGCTTGAACCTGGGAGGCAGAGGTTGCAGTGAGCTGAGATCACACCTCAACATTCCAGCCTGGGTGACAGAGTGAGACTCTGTCTCAAAGATAAATAAATAAAACAAACAAATAAACAAATACAAAACCCCAAAAGAACTAGTCCATGCTCCTGAGGAGGAGCCCAGTGTCGGGCTGGGGGATCTGCCTCAAGGCACCAGGCTTTAACTCAGCTCTGGGCTATTGCTCCTTCTGTGTGGGCACCCTGCTGGGGGCCACTCCTTCCAACCCAGGGGCTGCCCTTCCTCTCACACCAGCACAGTTGCATTTGTGGAGGTTCCCGCCATGTCTGAGATCCCTGAGAACCCCATTTGCACACAGAAGGCCAGGGGCAGGAGCACAAGAAGCTAAGGGAAGCTGAAGCTGAAGGCGCTGCCAAGGCCTTGGGAGGGGTCCTGGCAATCATCTGTTGAGACTTGTTAAATCCTTTTCCTTAAAAGACTCCCGAAATTGTATCAGTTCCGGCTCCCACAAAAAGCATGGTGTCCCGGCCAGGGGGTGTGTGGCCCAGGAAGGAGCAGGGACCCTCAGCTAGCAAATCGCAAAGTCAACCAAGTCAAAGAAGGGCTGGCGGGCGGGCAGGCCAGAGAAGGCCGCGTGTTTGAATAGGGATAGTGGTCAAAAGCGTTTCCTTTCAGTCAAGGAAATACGAACTTTTCGGCAATCCCCGGGGACATGAGGACTTGCCGGGCCTAGCAACATGTTTCTGACACACCCACAGGGCCGAGGCGAAGGGGAGGGTGAGGACCAGGCCTTCAGAGGCCAGGACATGTGGGAGGGGACCCCAAGCAGAGGGCGGGTAACCCGGGGCCCTCCTTCTTCCCCAGGACACGGCACTACCCACTCACCATCTTGGGTGGGGCCAGCACCAGGATGACGAACCGAACCTCACAGGA
Task1_train_27646
This variant affects gene SLC4A11 (solute carrier family 4 member 11) located on Chromosome 20. Evaluate its biological effect and specify any disease association.
Pathogenic; Corneal dystrophy, Fuchs endothelial, 4
GTGCATGAGCACAGCCTTTGACCCATGCGGCCCCTCCCCTCCCCATGCAGCCCCTCACCTCTTCTTGAATTGGTAGAGGGTGTAGCCCAGCCAGAGCGTGCCCAGCATGATGAGGAGGCTGAGCACGGCGGTCGCCTGGCCTGAGTGTGTGGCCGAGGGCAGCTCCGTGGGGCTGGCGAGGAAGCTGGCGTTGAGGGCAGTGTGGAGGCTGGCGTTGAGGCTGGCGCCGAGGCCTGACAGGCTGACAAGGGATGAAGTCCTTTTTGTGTGATAGTCGTCCAAGTAATGCCCATAGTAGTACTTCCAGAAGACTGTGGACACACACCCACAGGCCTCAGCCCTCTCCAGCGTGTGGCAGGGGGAGGCCCTGGAGGGAGGGGATCTCAGGGAGAAAGGGCTCCAGGGGGAAGGTGAGGGGACCCTGCCGACGTGCCCATGCACCCACACTCCTGCCCACTGTCCCTGTCCCATCTCTGACACCCCATCACAGTCGGCCCAGTGCCTCTGCCCCCACGGCTGGTCCCACCTGGGGCGGCCCCGTCACCCTCCAGCGTGGAGGGCTCTGCCCTCTGCCAGCCCAAGGCTCCCAGAGCACCGCACCCTTGATCACGGGCACACACTCAGCTTGAGCCAGTCCTATGTGCCCCCAGCCAGGGGCAGTGCAGAACCTCCCATCTCGGCTGAGCGCCCTGTTCAGCAGGTGGCCCCCAGCCGCACTCACTTTTAACCGTGCCCTTGACGGCATCCAGCACAAACGTGATGGAAATGAAGAGGGCGATGATCTCCTCCGTCGACCTGCCAGGAGGCCATGAGCCTCATCAGAGTGGGTGTGGTCAGGGGGCAGGTGGGGGAGGCCTCCCTGAGCCCCTGCACAGTCCCCTGCCTCCCCCTGCCAGGAAGAAGGCCAGGGCCCCAGGCCTTGCCTGAGCCCACCCCAGCCCCTTGGGGCAGCAATATGGTGGGGGCACCCCCACCACCCTGGGGTTACAGGGGGCTGAACCAGATCCCAAGCCTTGAGGGTCCCAGCAGCTCACGGAAGGGCCAGTCACCTCTTGAAGAGACTCATGACCAGGCTGAGGTTGAAAAAGGCATAAAGCGCAAGGAAGAAACTATTCCACAGGCCCGTCCATGCGTAGAAGGAGTTGAAGTCCAGGTCATAGTCATCACAGATGACACGAATCACTGCAGGCAGGGGGCAGGGCGGGTCAGGGCCCGGCAGGAACCAGGGGTCTCAGGCACCATCTCCCGCCTCAGCCCCCACTGCACCCTGGATGTAGAGCGCCAGGGGCGCGGTGGTCAGCAGAATCACCAATGGCTGCCCAGAGAAGAGCGCGTAGAGCAGGCCCCCGATGCTCTGCCCGGCTATGGTCTTCTGCACGTCTGTGGGGGTGCGGAGGTCAGGTGGGCGCCGCAGCCCAGGGCCCAGCCCAGCATACCCCCACCCACCGCCCACCGCCAGCCCCTCACCGATGGCCCCGTCTGTGTTCTCGTCATTGAGAGACCCGAAAGCGATGGTGGGCAGGAGGCAGGCGAAGTAGAGGAACAGGGTGGTGGTGATGTATTTGCCCACAGCCTTGTTTTTCCCAATAATGCCTAGGAATGGGGGATGGGAGAGAGGGTTTGCTGGGGATGCAGGACAGGCACACGTGTGGGCCCAAGGCCTGGAAAGCAGAGGCCACGTACCATCAGTGAAGTCCAAGGGGTACAAGGGGAACCTGCGTGCGATGTCCTCCCGGATGCCCTTCCCAAAAGGGACAAAGTCCTTGCACTTTGGGGGCTGGAGGAGAGGACAGAGCGCCTGTTAGCCCTGTCCGGCCCATGCCCCCGCCGACCCTGCCGGCCCCCGCCGGCCTCTACCCTGTACCTCTGGGTGTCTGTGGGCAGGGAGGGAGACTGTGCTGCGTTCCTTCGTTCTCGGCGCCACTGGACCGTGGCTCACCATGGTGAGCAGCTGTCTCTGATGCACCAAGGCCTCCTTGAATTCCTCCTCTGTGCGGGTCTCCAGGAGCTTCTGGCGGAAGGCGATATCCGAGAACATGGTGGCAAACGTGCGCGCCACCTCCATCGCAGTCTTAGTGCTTTTCTAGGGGTGGAGGATGGGAGTCACCCCTAGAAACAGAGGAGGCCCTGCCCGGGCCGAGCAGGTGAAGGTGCTCTCCCCATGAACTGGCAGCAGGTTTTTTGTCTGTTTGTTTTTTGTGTTTTTTTGAGACAGGGTCTCACTGTCACCCAGGCTGAGTGCAGTGGCACACTCACGGCTTATCGTAGCCTCGACCTCCCGGGCTCAAGTGATTCTCCCACATCAGTCCCCTGAGTAGCTGGGACCACAGGCACGCACCACCATGCCAGGCAATTTTTAATTTTTAACTTTTTGTAGAGACGAGGTCTCACTATGTTGACCAGGCTGGTCTCAAACTCCTGGCCTCAAGCAATCCATCTGTCTAGGCCTCCCAAAGTGCTGGGATTACAGGCACGAGCCACTGTGCCCAGATGCTGGTAGCAGGTTTTATTCCACAAAGTTCAGGCATTAGTGTACTCTGCCATGATTTCAACCAGGTCAGCAGATCACCGCAACTACCATCGATCTATATTTTTGTTATAAACTCATGATTTCTTATAAACTCAAGATATTACTTTTGTCCTAAGCAACAAAAGTCTGTGTGATCACAGATAATGAAACCACAGTGGAGAAAAATGTTTCCCCAGCTACGTTTCCCCAGTGGTATTTGCACTGTCTGCTGGTTTGACTTTCAGAGAGGGTCCAAGCCCGTCAGGCACTCTCTCTCTCGCCCGGCCAAGGTGAAGCCCGTCCGTGAACCATGAACTCACGAACTCAGTGTCCAGCCCTCATCACAGCAACCTGCTCACCTAGGGGCAGTGTCTGCCCGTCTGTTGCTCAAAGCTCTAGTCCCGGGGCACTGTGCATGTTTGCTGTAGAAGAGGCCCGTGCCTGGCAGGGCATGGTGGCTCACGCCCATAATACCAACTTTTTTGGGAGGCTAAGGCAGGCAGATCACTTGAGGTCAAGAGTTCAAGACCAGCCTGGCCAACATGGTGAAACCCCATCTCTACTAAAAATACAAAATAATTAGCTGGCTGTAGTTTTTGGTGGTGGCGGGTGCCTGTAGTCACAGCTACTTGGGAGGCTGAGGCGGGAGAATCGCTTGAACCTGGGAGGCAGAGGTTGCAGTGAGCTGAGATCACACCTCAACATTCCAGCCTGGGTGACAGAGTGAGACTCTGTCTCAAAGATAAATAAATAAAACAAACAAATAAACAAATACAAAACCCCAAAAGAACTAGTCCATGCTCCTGAGGAGGAGCCCAGTGTCGGGCTGGGGGATCTGCCTCAAGGCACCAGGCTTTAACTCAGCTCTGGGCTATTGCTCCTTCTGTGTGGGCACCCTGCTGGGGGCCACTCCTTCCAACCCAGGGGCTGCCCTTCCTCTCACACCAGCACAGTTGCATTTGTGGAGGTTCCCGCCATGTCTGAGATCCCTGAGAACCCCATTTGCACACAGAAGGCCAGGGGCAGGAGCACAAGAAGCTAAGGGAAGCTGAAGCTGAAGGCGCTGCCAAGGCCTTGGGAGGGGTCCTGGCAATCATCTGTTGAGACTTGTTAAATCCTTTTCCTTAAAAGACTCCCGAAATTGTATCAGTTCCGGCTCCCACAAAAAGCATGGTGTCCCGGCCAGGGGGTGTGTGGCCCAGGAAGGAGCAGGGACCCTCAGCTAGCAAATCGCAAAGTCAACCAAGTCAAAGAAGGGCTGGCGGGCGGGCAGGCCAGAGAAGGCCGCGTGTTTGAATAGGGATAGTGGTCAAAAGCGTTTCCTTTCAGTCAAGGAAATACGAACTTTTCGGCAATCCCCGGGGACATGAGGACTTGCCGGGCCTAGCAACATGTTTCTGACACACCCACAGGGCCGAGGCGAAGGGGAGGGTGAGGACCAGGCCTTCAGAGGCCAGGACATGTGGGAGGGGACCCCAAGCAGAGGGCGGGTAACCCGGGGCCCTCCTTCTTCCCCAGGACACGGCACTACCCACTCACCATCTTGGGTGGGGCCAGCACCAGGATGACGAACCGAACCTCACAGGA
GTGCATGAGCACAGCCTTTGACCCATGCGGCCCCTCCCCTCCCCATGCAGCCCCTCACCTCTTCTTGAATTGGTAGAGGGTGTAGCCCAGCCAGAGCGTGCCCAGCATGATGAGGAGGCTGAGCACGGCGGTCGCCTGGCCTGAGTGTGTGGCCGAGGGCAGCTCCGTGGGGCTGGCGAGGAAGCTGGCGTTGAGGGCAGTGTGGAGGCTGGCGTTGAGGCTGGCGCCGAGGCCTGACAGGCTGACAAGGGATGAAGTCCTTTTTGTGTGATAGTCGTCCAAGTAATGCCCATAGTAGTACTTCCAGAAGACTGTGGACACACACCCACAGGCCTCAGCCCTCTCCAGCGTGTGGCAGGGGGAGGCCCTGGAGGGAGGGGATCTCAGGGAGAAAGGGCTCCAGGGGGAAGGTGAGGGGACCCTGCCGACGTGCCCATGCACCCACACTCCTGCCCACTGTCCCTGTCCCATCTCTGACACCCCATCACAGTCGGCCCAGTGCCTCTGCCCCCACGGCTGGTCCCACCTGGGGCGGCCCCGTCACCCTCCAGCGTGGAGGGCTCTGCCCTCTGCCAGCCCAAGGCTCCCAGAGCACCGCACCCTTGATCACGGGCACACACTCAGCTTGAGCCAGTCCTATGTGCCCCCAGCCAGGGGCAGTGCAGAACCTCCCATCTCGGCTGAGCGCCCTGTTCAGCAGGTGGCCCCCAGCCGCACTCACTTTTAACCGTGCCCTTGACGGCATCCAGCACAAACGTGATGGAAATGAAGAGGGCGATGATCTCCTCCGTCGACCTGCCAGGAGGCCATGAGCCTCATCAGAGTGGGTGTGGTCAGGGGGCAGGTGGGGGAGGCCTCCCTGAGCCCCTGCACAGTCCCCTGCCTCCCCCTGCCAGGAAGAAGGCCAGGGCCCCAGGCCTTGCCTGAGCCCACCCCAGCCCCTTGGGGCAGCAATATGGTGGGGGCACCCCCACCACCCTGGGGTTACAGGGGGCTGAACCAGATCCCAAGCCTTGAGGGTCCCAGCAGCTCACGGAAGGGCCAGTCACCTCTTGAAGAGACTCATGACCAGGCTGAGGTTGAAAAAGGCATAAAGCGCAAGGAAGAAACTATTCCACAGGCCCGTCCATGCGTAGAAGGAGTTGAAGTCCAGGTCATAGTCATCACAGATGACACGAATCACTGCAGGCAGGGGGCAGGGCGGGTCAGGGCCCGGCAGGAACCAGGGGTCTCAGGCACCATCTCCCGCCTCAGCCCCCACTGCACCCTGGATGTAGAGCGCCAGGGGCGCGGTGGTCAGCAGAATCACCAATGGCTGCCCAGAGAAGAGCGCGTAGAGCAGGCCCCCGATGCTCTGCCCGGCTATGGTCTTCTGCACGTCTGTGGGGGTGCGGAGGTCAGGTGGGCGCCGCAGCCCAGGGCCCAGCCCAGCATACCCCCACCCACCGCCCACCGCCAGCCCCTCACCGATGGCCCCGTCTGTGTTCTCGTCATTGAGAGACCCGAAAGCGATGGTGGGCAGGAGGCAGGCGAAGTAGAGGAACAGGGTGGTGGTGATGTATTTGCCCACAGCCTTGTTTTTCCCAATAATGCCTAGGAATGGGGGATGGGAGAGAGGGTTTGCTGGGGATGCAGGACAGGCACACGTGTGGGCCCAAGGCCTGGAAAGCAGAGGCCACGTACCATCAGTGAAGTCCAAGGGGTACAAGGGGAACCTGCGTGCGATGTCCTCCCGGATGCCCTTCCCAAAAGGGACAAAGTCCTTGCACTTTGGGGGCTGGAGGAGAGGACAGAGCGCCTGTTAGCCCTGTCCGGCCCATGCCCCCGCCGACCCTGCCGGCCCCCGCCGGCCTCTACCCTGTACCTCTGGGTGTCTGTGGGCAGGGAGGGAGACTGTGCTGCGTTCCTTCGTTCTCGGCGCCACTGGACCGTGGCTCACCATGGTGAGCAGCTGTCTCTGATGCACCAAGGCCTCCTTGAATTCCTCCTCTGTGCGGGTCTCCAGGAGCTTCTGGCGGAAGGCGATATCCGAGAACATGGTGGCAAACATGCGCGCCACCTCCATCGCAGTCTTAGTGCTTTTCTAGGGGTGGAGGATGGGAGTCACCCCTAGAAACAGAGGAGGCCCTGCCCGGGCCGAGCAGGTGAAGGTGCTCTCCCCATGAACTGGCAGCAGGTTTTTTGTCTGTTTGTTTTTTGTGTTTTTTTGAGACAGGGTCTCACTGTCACCCAGGCTGAGTGCAGTGGCACACTCACGGCTTATCGTAGCCTCGACCTCCCGGGCTCAAGTGATTCTCCCACATCAGTCCCCTGAGTAGCTGGGACCACAGGCACGCACCACCATGCCAGGCAATTTTTAATTTTTAACTTTTTGTAGAGACGAGGTCTCACTATGTTGACCAGGCTGGTCTCAAACTCCTGGCCTCAAGCAATCCATCTGTCTAGGCCTCCCAAAGTGCTGGGATTACAGGCACGAGCCACTGTGCCCAGATGCTGGTAGCAGGTTTTATTCCACAAAGTTCAGGCATTAGTGTACTCTGCCATGATTTCAACCAGGTCAGCAGATCACCGCAACTACCATCGATCTATATTTTTGTTATAAACTCATGATTTCTTATAAACTCAAGATATTACTTTTGTCCTAAGCAACAAAAGTCTGTGTGATCACAGATAATGAAACCACAGTGGAGAAAAATGTTTCCCCAGCTACGTTTCCCCAGTGGTATTTGCACTGTCTGCTGGTTTGACTTTCAGAGAGGGTCCAAGCCCGTCAGGCACTCTCTCTCTCGCCCGGCCAAGGTGAAGCCCGTCCGTGAACCATGAACTCACGAACTCAGTGTCCAGCCCTCATCACAGCAACCTGCTCACCTAGGGGCAGTGTCTGCCCGTCTGTTGCTCAAAGCTCTAGTCCCGGGGCACTGTGCATGTTTGCTGTAGAAGAGGCCCGTGCCTGGCAGGGCATGGTGGCTCACGCCCATAATACCAACTTTTTTGGGAGGCTAAGGCAGGCAGATCACTTGAGGTCAAGAGTTCAAGACCAGCCTGGCCAACATGGTGAAACCCCATCTCTACTAAAAATACAAAATAATTAGCTGGCTGTAGTTTTTGGTGGTGGCGGGTGCCTGTAGTCACAGCTACTTGGGAGGCTGAGGCGGGAGAATCGCTTGAACCTGGGAGGCAGAGGTTGCAGTGAGCTGAGATCACACCTCAACATTCCAGCCTGGGTGACAGAGTGAGACTCTGTCTCAAAGATAAATAAATAAAACAAACAAATAAACAAATACAAAACCCCAAAAGAACTAGTCCATGCTCCTGAGGAGGAGCCCAGTGTCGGGCTGGGGGATCTGCCTCAAGGCACCAGGCTTTAACTCAGCTCTGGGCTATTGCTCCTTCTGTGTGGGCACCCTGCTGGGGGCCACTCCTTCCAACCCAGGGGCTGCCCTTCCTCTCACACCAGCACAGTTGCATTTGTGGAGGTTCCCGCCATGTCTGAGATCCCTGAGAACCCCATTTGCACACAGAAGGCCAGGGGCAGGAGCACAAGAAGCTAAGGGAAGCTGAAGCTGAAGGCGCTGCCAAGGCCTTGGGAGGGGTCCTGGCAATCATCTGTTGAGACTTGTTAAATCCTTTTCCTTAAAAGACTCCCGAAATTGTATCAGTTCCGGCTCCCACAAAAAGCATGGTGTCCCGGCCAGGGGGTGTGTGGCCCAGGAAGGAGCAGGGACCCTCAGCTAGCAAATCGCAAAGTCAACCAAGTCAAAGAAGGGCTGGCGGGCGGGCAGGCCAGAGAAGGCCGCGTGTTTGAATAGGGATAGTGGTCAAAAGCGTTTCCTTTCAGTCAAGGAAATACGAACTTTTCGGCAATCCCCGGGGACATGAGGACTTGCCGGGCCTAGCAACATGTTTCTGACACACCCACAGGGCCGAGGCGAAGGGGAGGGTGAGGACCAGGCCTTCAGAGGCCAGGACATGTGGGAGGGGACCCCAAGCAGAGGGCGGGTAACCCGGGGCCCTCCTTCTTCCCCAGGACACGGCACTACCCACTCACCATCTTGGGTGGGGCCAGCACCAGGATGACGAACCGAACCTCACAGGA
Task1_train_27647
Here is a variant affecting SLC4A11 (solute carrier family 4 member 11) on Chromosome 20. Please identify whether it is a benign mutation or associated with a disorder.
Pathogenic; Corneal dystrophy-perceptive deafness syndrome
GTGCATGAGCACAGCCTTTGACCCATGCGGCCCCTCCCCTCCCCATGCAGCCCCTCACCTCTTCTTGAATTGGTAGAGGGTGTAGCCCAGCCAGAGCGTGCCCAGCATGATGAGGAGGCTGAGCACGGCGGTCGCCTGGCCTGAGTGTGTGGCCGAGGGCAGCTCCGTGGGGCTGGCGAGGAAGCTGGCGTTGAGGGCAGTGTGGAGGCTGGCGTTGAGGCTGGCGCCGAGGCCTGACAGGCTGACAAGGGATGAAGTCCTTTTTGTGTGATAGTCGTCCAAGTAATGCCCATAGTAGTACTTCCAGAAGACTGTGGACACACACCCACAGGCCTCAGCCCTCTCCAGCGTGTGGCAGGGGGAGGCCCTGGAGGGAGGGGATCTCAGGGAGAAAGGGCTCCAGGGGGAAGGTGAGGGGACCCTGCCGACGTGCCCATGCACCCACACTCCTGCCCACTGTCCCTGTCCCATCTCTGACACCCCATCACAGTCGGCCCAGTGCCTCTGCCCCCACGGCTGGTCCCACCTGGGGCGGCCCCGTCACCCTCCAGCGTGGAGGGCTCTGCCCTCTGCCAGCCCAAGGCTCCCAGAGCACCGCACCCTTGATCACGGGCACACACTCAGCTTGAGCCAGTCCTATGTGCCCCCAGCCAGGGGCAGTGCAGAACCTCCCATCTCGGCTGAGCGCCCTGTTCAGCAGGTGGCCCCCAGCCGCACTCACTTTTAACCGTGCCCTTGACGGCATCCAGCACAAACGTGATGGAAATGAAGAGGGCGATGATCTCCTCCGTCGACCTGCCAGGAGGCCATGAGCCTCATCAGAGTGGGTGTGGTCAGGGGGCAGGTGGGGGAGGCCTCCCTGAGCCCCTGCACAGTCCCCTGCCTCCCCCTGCCAGGAAGAAGGCCAGGGCCCCAGGCCTTGCCTGAGCCCACCCCAGCCCCTTGGGGCAGCAATATGGTGGGGGCACCCCCACCACCCTGGGGTTACAGGGGGCTGAACCAGATCCCAAGCCTTGAGGGTCCCAGCAGCTCACGGAAGGGCCAGTCACCTCTTGAAGAGACTCATGACCAGGCTGAGGTTGAAAAAGGCATAAAGCGCAAGGAAGAAACTATTCCACAGGCCCGTCCATGCGTAGAAGGAGTTGAAGTCCAGGTCATAGTCATCACAGATGACACGAATCACTGCAGGCAGGGGGCAGGGCGGGTCAGGGCCCGGCAGGAACCAGGGGTCTCAGGCACCATCTCCCGCCTCAGCCCCCACTGCACCCTGGATGTAGAGCGCCAGGGGCGCGGTGGTCAGCAGAATCACCAATGGCTGCCCAGAGAAGAGCGCGTAGAGCAGGCCCCCGATGCTCTGCCCGGCTATGGTCTTCTGCACGTCTGTGGGGGTGCGGAGGTCAGGTGGGCGCCGCAGCCCAGGGCCCAGCCCAGCATACCCCCACCCACCGCCCACCGCCAGCCCCTCACCGATGGCCCCGTCTGTGTTCTCGTCATTGAGAGACCCGAAAGCGATGGTGGGCAGGAGGCAGGCGAAGTAGAGGAACAGGGTGGTGGTGATGTATTTGCCCACAGCCTTGTTTTTCCCAATAATGCCTAGGAATGGGGGATGGGAGAGAGGGTTTGCTGGGGATGCAGGACAGGCACACGTGTGGGCCCAAGGCCTGGAAAGCAGAGGCCACGTACCATCAGTGAAGTCCAAGGGGTACAAGGGGAACCTGCGTGCGATGTCCTCCCGGATGCCCTTCCCAAAAGGGACAAAGTCCTTGCACTTTGGGGGCTGGAGGAGAGGACAGAGCGCCTGTTAGCCCTGTCCGGCCCATGCCCCCGCCGACCCTGCCGGCCCCCGCCGGCCTCTACCCTGTACCTCTGGGTGTCTGTGGGCAGGGAGGGAGACTGTGCTGCGTTCCTTCGTTCTCGGCGCCACTGGACCGTGGCTCACCATGGTGAGCAGCTGTCTCTGATGCACCAAGGCCTCCTTGAATTCCTCCTCTGTGCGGGTCTCCAGGAGCTTCTGGCGGAAGGCGATATCCGAGAACATGGTGGCAAACGTGCGCGCCACCTCCATCGCAGTCTTAGTGCTTTTCTAGGGGTGGAGGATGGGAGTCACCCCTAGAAACAGAGGAGGCCCTGCCCGGGCCGAGCAGGTGAAGGTGCTCTCCCCATGAACTGGCAGCAGGTTTTTTGTCTGTTTGTTTTTTGTGTTTTTTTGAGACAGGGTCTCACTGTCACCCAGGCTGAGTGCAGTGGCACACTCACGGCTTATCGTAGCCTCGACCTCCCGGGCTCAAGTGATTCTCCCACATCAGTCCCCTGAGTAGCTGGGACCACAGGCACGCACCACCATGCCAGGCAATTTTTAATTTTTAACTTTTTGTAGAGACGAGGTCTCACTATGTTGACCAGGCTGGTCTCAAACTCCTGGCCTCAAGCAATCCATCTGTCTAGGCCTCCCAAAGTGCTGGGATTACAGGCACGAGCCACTGTGCCCAGATGCTGGTAGCAGGTTTTATTCCACAAAGTTCAGGCATTAGTGTACTCTGCCATGATTTCAACCAGGTCAGCAGATCACCGCAACTACCATCGATCTATATTTTTGTTATAAACTCATGATTTCTTATAAACTCAAGATATTACTTTTGTCCTAAGCAACAAAAGTCTGTGTGATCACAGATAATGAAACCACAGTGGAGAAAAATGTTTCCCCAGCTACGTTTCCCCAGTGGTATTTGCACTGTCTGCTGGTTTGACTTTCAGAGAGGGTCCAAGCCCGTCAGGCACTCTCTCTCTCGCCCGGCCAAGGTGAAGCCCGTCCGTGAACCATGAACTCACGAACTCAGTGTCCAGCCCTCATCACAGCAACCTGCTCACCTAGGGGCAGTGTCTGCCCGTCTGTTGCTCAAAGCTCTAGTCCCGGGGCACTGTGCATGTTTGCTGTAGAAGAGGCCCGTGCCTGGCAGGGCATGGTGGCTCACGCCCATAATACCAACTTTTTTGGGAGGCTAAGGCAGGCAGATCACTTGAGGTCAAGAGTTCAAGACCAGCCTGGCCAACATGGTGAAACCCCATCTCTACTAAAAATACAAAATAATTAGCTGGCTGTAGTTTTTGGTGGTGGCGGGTGCCTGTAGTCACAGCTACTTGGGAGGCTGAGGCGGGAGAATCGCTTGAACCTGGGAGGCAGAGGTTGCAGTGAGCTGAGATCACACCTCAACATTCCAGCCTGGGTGACAGAGTGAGACTCTGTCTCAAAGATAAATAAATAAAACAAACAAATAAACAAATACAAAACCCCAAAAGAACTAGTCCATGCTCCTGAGGAGGAGCCCAGTGTCGGGCTGGGGGATCTGCCTCAAGGCACCAGGCTTTAACTCAGCTCTGGGCTATTGCTCCTTCTGTGTGGGCACCCTGCTGGGGGCCACTCCTTCCAACCCAGGGGCTGCCCTTCCTCTCACACCAGCACAGTTGCATTTGTGGAGGTTCCCGCCATGTCTGAGATCCCTGAGAACCCCATTTGCACACAGAAGGCCAGGGGCAGGAGCACAAGAAGCTAAGGGAAGCTGAAGCTGAAGGCGCTGCCAAGGCCTTGGGAGGGGTCCTGGCAATCATCTGTTGAGACTTGTTAAATCCTTTTCCTTAAAAGACTCCCGAAATTGTATCAGTTCCGGCTCCCACAAAAAGCATGGTGTCCCGGCCAGGGGGTGTGTGGCCCAGGAAGGAGCAGGGACCCTCAGCTAGCAAATCGCAAAGTCAACCAAGTCAAAGAAGGGCTGGCGGGCGGGCAGGCCAGAGAAGGCCGCGTGTTTGAATAGGGATAGTGGTCAAAAGCGTTTCCTTTCAGTCAAGGAAATACGAACTTTTCGGCAATCCCCGGGGACATGAGGACTTGCCGGGCCTAGCAACATGTTTCTGACACACCCACAGGGCCGAGGCGAAGGGGAGGGTGAGGACCAGGCCTTCAGAGGCCAGGACATGTGGGAGGGGACCCCAAGCAGAGGGCGGGTAACCCGGGGCCCTCCTTCTTCCCCAGGACACGGCACTACCCACTCACCATCTTGGGTGGGGCCAGCACCAGGATGACGAACCGAACCTCACAGGA
GTGCATGAGCACAGCCTTTGACCCATGCGGCCCCTCCCCTCCCCATGCAGCCCCTCACCTCTTCTTGAATTGGTAGAGGGTGTAGCCCAGCCAGAGCGTGCCCAGCATGATGAGGAGGCTGAGCACGGCGGTCGCCTGGCCTGAGTGTGTGGCCGAGGGCAGCTCCGTGGGGCTGGCGAGGAAGCTGGCGTTGAGGGCAGTGTGGAGGCTGGCGTTGAGGCTGGCGCCGAGGCCTGACAGGCTGACAAGGGATGAAGTCCTTTTTGTGTGATAGTCGTCCAAGTAATGCCCATAGTAGTACTTCCAGAAGACTGTGGACACACACCCACAGGCCTCAGCCCTCTCCAGCGTGTGGCAGGGGGAGGCCCTGGAGGGAGGGGATCTCAGGGAGAAAGGGCTCCAGGGGGAAGGTGAGGGGACCCTGCCGACGTGCCCATGCACCCACACTCCTGCCCACTGTCCCTGTCCCATCTCTGACACCCCATCACAGTCGGCCCAGTGCCTCTGCCCCCACGGCTGGTCCCACCTGGGGCGGCCCCGTCACCCTCCAGCGTGGAGGGCTCTGCCCTCTGCCAGCCCAAGGCTCCCAGAGCACCGCACCCTTGATCACGGGCACACACTCAGCTTGAGCCAGTCCTATGTGCCCCCAGCCAGGGGCAGTGCAGAACCTCCCATCTCGGCTGAGCGCCCTGTTCAGCAGGTGGCCCCCAGCCGCACTCACTTTTAACCGTGCCCTTGACGGCATCCAGCACAAACGTGATGGAAATGAAGAGGGCGATGATCTCCTCCGTCGACCTGCCAGGAGGCCATGAGCCTCATCAGAGTGGGTGTGGTCAGGGGGCAGGTGGGGGAGGCCTCCCTGAGCCCCTGCACAGTCCCCTGCCTCCCCCTGCCAGGAAGAAGGCCAGGGCCCCAGGCCTTGCCTGAGCCCACCCCAGCCCCTTGGGGCAGCAATATGGTGGGGGCACCCCCACCACCCTGGGGTTACAGGGGGCTGAACCAGATCCCAAGCCTTGAGGGTCCCAGCAGCTCACGGAAGGGCCAGTCACCTCTTGAAGAGACTCATGACCAGGCTGAGGTTGAAAAAGGCATAAAGCGCAAGGAAGAAACTATTCCACAGGCCCGTCCATGCGTAGAAGGAGTTGAAGTCCAGGTCATAGTCATCACAGATGACACGAATCACTGCAGGCAGGGGGCAGGGCGGGTCAGGGCCCGGCAGGAACCAGGGGTCTCAGGCACCATCTCCCGCCTCAGCCCCCACTGCACCCTGGATGTAGAGCGCCAGGGGCGCGGTGGTCAGCAGAATCACCAATGGCTGCCCAGAGAAGAGCGCGTAGAGCAGGCCCCCGATGCTCTGCCCGGCTATGGTCTTCTGCACGTCTGTGGGGGTGCGGAGGTCAGGTGGGCGCCGCAGCCCAGGGCCCAGCCCAGCATACCCCCACCCACCGCCCACCGCCAGCCCCTCACCGATGGCCCCGTCTGTGTTCTCGTCATTGAGAGACCCGAAAGCGATGGTGGGCAGGAGGCAGGCGAAGTAGAGGAACAGGGTGGTGGTGATGTATTTGCCCACAGCCTTGTTTTTCCCAATAATGCCTAGGAATGGGGGATGGGAGAGAGGGTTTGCTGGGGATGCAGGACAGGCACACGTGTGGGCCCAAGGCCTGGAAAGCAGAGGCCACGTACCATCAGTGAAGTCCAAGGGGTACAAGGGGAACCTGCGTGCGATGTCCTCCCGGATGCCCTTCCCAAAAGGGACAAAGTCCTTGCACTTTGGGGGCTGGAGGAGAGGACAGAGCGCCTGTTAGCCCTGTCCGGCCCATGCCCCCGCCGACCCTGCCGGCCCCCGCCGGCCTCTACCCTGTACCTCTGGGTGTCTGTGGGCAGGGAGGGAGACTGTGCTGCGTTCCTTCGTTCTCGGCGCCACTGGACCGTGGCTCACCATGGTGAGCAGCTGTCTCTGATGCACCAAGGCCTCCTTGAATTCCTCCTCTGTGCGGGTCTCCAGGAGCTTCTGGCGGAAGGCGATATCCGAGAACATGGTGGCAAACATGCGCGCCACCTCCATCGCAGTCTTAGTGCTTTTCTAGGGGTGGAGGATGGGAGTCACCCCTAGAAACAGAGGAGGCCCTGCCCGGGCCGAGCAGGTGAAGGTGCTCTCCCCATGAACTGGCAGCAGGTTTTTTGTCTGTTTGTTTTTTGTGTTTTTTTGAGACAGGGTCTCACTGTCACCCAGGCTGAGTGCAGTGGCACACTCACGGCTTATCGTAGCCTCGACCTCCCGGGCTCAAGTGATTCTCCCACATCAGTCCCCTGAGTAGCTGGGACCACAGGCACGCACCACCATGCCAGGCAATTTTTAATTTTTAACTTTTTGTAGAGACGAGGTCTCACTATGTTGACCAGGCTGGTCTCAAACTCCTGGCCTCAAGCAATCCATCTGTCTAGGCCTCCCAAAGTGCTGGGATTACAGGCACGAGCCACTGTGCCCAGATGCTGGTAGCAGGTTTTATTCCACAAAGTTCAGGCATTAGTGTACTCTGCCATGATTTCAACCAGGTCAGCAGATCACCGCAACTACCATCGATCTATATTTTTGTTATAAACTCATGATTTCTTATAAACTCAAGATATTACTTTTGTCCTAAGCAACAAAAGTCTGTGTGATCACAGATAATGAAACCACAGTGGAGAAAAATGTTTCCCCAGCTACGTTTCCCCAGTGGTATTTGCACTGTCTGCTGGTTTGACTTTCAGAGAGGGTCCAAGCCCGTCAGGCACTCTCTCTCTCGCCCGGCCAAGGTGAAGCCCGTCCGTGAACCATGAACTCACGAACTCAGTGTCCAGCCCTCATCACAGCAACCTGCTCACCTAGGGGCAGTGTCTGCCCGTCTGTTGCTCAAAGCTCTAGTCCCGGGGCACTGTGCATGTTTGCTGTAGAAGAGGCCCGTGCCTGGCAGGGCATGGTGGCTCACGCCCATAATACCAACTTTTTTGGGAGGCTAAGGCAGGCAGATCACTTGAGGTCAAGAGTTCAAGACCAGCCTGGCCAACATGGTGAAACCCCATCTCTACTAAAAATACAAAATAATTAGCTGGCTGTAGTTTTTGGTGGTGGCGGGTGCCTGTAGTCACAGCTACTTGGGAGGCTGAGGCGGGAGAATCGCTTGAACCTGGGAGGCAGAGGTTGCAGTGAGCTGAGATCACACCTCAACATTCCAGCCTGGGTGACAGAGTGAGACTCTGTCTCAAAGATAAATAAATAAAACAAACAAATAAACAAATACAAAACCCCAAAAGAACTAGTCCATGCTCCTGAGGAGGAGCCCAGTGTCGGGCTGGGGGATCTGCCTCAAGGCACCAGGCTTTAACTCAGCTCTGGGCTATTGCTCCTTCTGTGTGGGCACCCTGCTGGGGGCCACTCCTTCCAACCCAGGGGCTGCCCTTCCTCTCACACCAGCACAGTTGCATTTGTGGAGGTTCCCGCCATGTCTGAGATCCCTGAGAACCCCATTTGCACACAGAAGGCCAGGGGCAGGAGCACAAGAAGCTAAGGGAAGCTGAAGCTGAAGGCGCTGCCAAGGCCTTGGGAGGGGTCCTGGCAATCATCTGTTGAGACTTGTTAAATCCTTTTCCTTAAAAGACTCCCGAAATTGTATCAGTTCCGGCTCCCACAAAAAGCATGGTGTCCCGGCCAGGGGGTGTGTGGCCCAGGAAGGAGCAGGGACCCTCAGCTAGCAAATCGCAAAGTCAACCAAGTCAAAGAAGGGCTGGCGGGCGGGCAGGCCAGAGAAGGCCGCGTGTTTGAATAGGGATAGTGGTCAAAAGCGTTTCCTTTCAGTCAAGGAAATACGAACTTTTCGGCAATCCCCGGGGACATGAGGACTTGCCGGGCCTAGCAACATGTTTCTGACACACCCACAGGGCCGAGGCGAAGGGGAGGGTGAGGACCAGGCCTTCAGAGGCCAGGACATGTGGGAGGGGACCCCAAGCAGAGGGCGGGTAACCCGGGGCCCTCCTTCTTCCCCAGGACACGGCACTACCCACTCACCATCTTGGGTGGGGCCAGCACCAGGATGACGAACCGAACCTCACAGGA
Task1_train_27648
This variant affects the gene SLC4A11 (solute carrier family 4 member 11) found on Chromosome 20. What is the clinical effect of this variant — benign or pathogenic? State the disease if applicable.
Pathogenic; Congenital hereditary endothelial dystrophy of cornea
GTGCATGAGCACAGCCTTTGACCCATGCGGCCCCTCCCCTCCCCATGCAGCCCCTCACCTCTTCTTGAATTGGTAGAGGGTGTAGCCCAGCCAGAGCGTGCCCAGCATGATGAGGAGGCTGAGCACGGCGGTCGCCTGGCCTGAGTGTGTGGCCGAGGGCAGCTCCGTGGGGCTGGCGAGGAAGCTGGCGTTGAGGGCAGTGTGGAGGCTGGCGTTGAGGCTGGCGCCGAGGCCTGACAGGCTGACAAGGGATGAAGTCCTTTTTGTGTGATAGTCGTCCAAGTAATGCCCATAGTAGTACTTCCAGAAGACTGTGGACACACACCCACAGGCCTCAGCCCTCTCCAGCGTGTGGCAGGGGGAGGCCCTGGAGGGAGGGGATCTCAGGGAGAAAGGGCTCCAGGGGGAAGGTGAGGGGACCCTGCCGACGTGCCCATGCACCCACACTCCTGCCCACTGTCCCTGTCCCATCTCTGACACCCCATCACAGTCGGCCCAGTGCCTCTGCCCCCACGGCTGGTCCCACCTGGGGCGGCCCCGTCACCCTCCAGCGTGGAGGGCTCTGCCCTCTGCCAGCCCAAGGCTCCCAGAGCACCGCACCCTTGATCACGGGCACACACTCAGCTTGAGCCAGTCCTATGTGCCCCCAGCCAGGGGCAGTGCAGAACCTCCCATCTCGGCTGAGCGCCCTGTTCAGCAGGTGGCCCCCAGCCGCACTCACTTTTAACCGTGCCCTTGACGGCATCCAGCACAAACGTGATGGAAATGAAGAGGGCGATGATCTCCTCCGTCGACCTGCCAGGAGGCCATGAGCCTCATCAGAGTGGGTGTGGTCAGGGGGCAGGTGGGGGAGGCCTCCCTGAGCCCCTGCACAGTCCCCTGCCTCCCCCTGCCAGGAAGAAGGCCAGGGCCCCAGGCCTTGCCTGAGCCCACCCCAGCCCCTTGGGGCAGCAATATGGTGGGGGCACCCCCACCACCCTGGGGTTACAGGGGGCTGAACCAGATCCCAAGCCTTGAGGGTCCCAGCAGCTCACGGAAGGGCCAGTCACCTCTTGAAGAGACTCATGACCAGGCTGAGGTTGAAAAAGGCATAAAGCGCAAGGAAGAAACTATTCCACAGGCCCGTCCATGCGTAGAAGGAGTTGAAGTCCAGGTCATAGTCATCACAGATGACACGAATCACTGCAGGCAGGGGGCAGGGCGGGTCAGGGCCCGGCAGGAACCAGGGGTCTCAGGCACCATCTCCCGCCTCAGCCCCCACTGCACCCTGGATGTAGAGCGCCAGGGGCGCGGTGGTCAGCAGAATCACCAATGGCTGCCCAGAGAAGAGCGCGTAGAGCAGGCCCCCGATGCTCTGCCCGGCTATGGTCTTCTGCACGTCTGTGGGGGTGCGGAGGTCAGGTGGGCGCCGCAGCCCAGGGCCCAGCCCAGCATACCCCCACCCACCGCCCACCGCCAGCCCCTCACCGATGGCCCCGTCTGTGTTCTCGTCATTGAGAGACCCGAAAGCGATGGTGGGCAGGAGGCAGGCGAAGTAGAGGAACAGGGTGGTGGTGATGTATTTGCCCACAGCCTTGTTTTTCCCAATAATGCCTAGGAATGGGGGATGGGAGAGAGGGTTTGCTGGGGATGCAGGACAGGCACACGTGTGGGCCCAAGGCCTGGAAAGCAGAGGCCACGTACCATCAGTGAAGTCCAAGGGGTACAAGGGGAACCTGCGTGCGATGTCCTCCCGGATGCCCTTCCCAAAAGGGACAAAGTCCTTGCACTTTGGGGGCTGGAGGAGAGGACAGAGCGCCTGTTAGCCCTGTCCGGCCCATGCCCCCGCCGACCCTGCCGGCCCCCGCCGGCCTCTACCCTGTACCTCTGGGTGTCTGTGGGCAGGGAGGGAGACTGTGCTGCGTTCCTTCGTTCTCGGCGCCACTGGACCGTGGCTCACCATGGTGAGCAGCTGTCTCTGATGCACCAAGGCCTCCTTGAATTCCTCCTCTGTGCGGGTCTCCAGGAGCTTCTGGCGGAAGGCGATATCCGAGAACATGGTGGCAAACGTGCGCGCCACCTCCATCGCAGTCTTAGTGCTTTTCTAGGGGTGGAGGATGGGAGTCACCCCTAGAAACAGAGGAGGCCCTGCCCGGGCCGAGCAGGTGAAGGTGCTCTCCCCATGAACTGGCAGCAGGTTTTTTGTCTGTTTGTTTTTTGTGTTTTTTTGAGACAGGGTCTCACTGTCACCCAGGCTGAGTGCAGTGGCACACTCACGGCTTATCGTAGCCTCGACCTCCCGGGCTCAAGTGATTCTCCCACATCAGTCCCCTGAGTAGCTGGGACCACAGGCACGCACCACCATGCCAGGCAATTTTTAATTTTTAACTTTTTGTAGAGACGAGGTCTCACTATGTTGACCAGGCTGGTCTCAAACTCCTGGCCTCAAGCAATCCATCTGTCTAGGCCTCCCAAAGTGCTGGGATTACAGGCACGAGCCACTGTGCCCAGATGCTGGTAGCAGGTTTTATTCCACAAAGTTCAGGCATTAGTGTACTCTGCCATGATTTCAACCAGGTCAGCAGATCACCGCAACTACCATCGATCTATATTTTTGTTATAAACTCATGATTTCTTATAAACTCAAGATATTACTTTTGTCCTAAGCAACAAAAGTCTGTGTGATCACAGATAATGAAACCACAGTGGAGAAAAATGTTTCCCCAGCTACGTTTCCCCAGTGGTATTTGCACTGTCTGCTGGTTTGACTTTCAGAGAGGGTCCAAGCCCGTCAGGCACTCTCTCTCTCGCCCGGCCAAGGTGAAGCCCGTCCGTGAACCATGAACTCACGAACTCAGTGTCCAGCCCTCATCACAGCAACCTGCTCACCTAGGGGCAGTGTCTGCCCGTCTGTTGCTCAAAGCTCTAGTCCCGGGGCACTGTGCATGTTTGCTGTAGAAGAGGCCCGTGCCTGGCAGGGCATGGTGGCTCACGCCCATAATACCAACTTTTTTGGGAGGCTAAGGCAGGCAGATCACTTGAGGTCAAGAGTTCAAGACCAGCCTGGCCAACATGGTGAAACCCCATCTCTACTAAAAATACAAAATAATTAGCTGGCTGTAGTTTTTGGTGGTGGCGGGTGCCTGTAGTCACAGCTACTTGGGAGGCTGAGGCGGGAGAATCGCTTGAACCTGGGAGGCAGAGGTTGCAGTGAGCTGAGATCACACCTCAACATTCCAGCCTGGGTGACAGAGTGAGACTCTGTCTCAAAGATAAATAAATAAAACAAACAAATAAACAAATACAAAACCCCAAAAGAACTAGTCCATGCTCCTGAGGAGGAGCCCAGTGTCGGGCTGGGGGATCTGCCTCAAGGCACCAGGCTTTAACTCAGCTCTGGGCTATTGCTCCTTCTGTGTGGGCACCCTGCTGGGGGCCACTCCTTCCAACCCAGGGGCTGCCCTTCCTCTCACACCAGCACAGTTGCATTTGTGGAGGTTCCCGCCATGTCTGAGATCCCTGAGAACCCCATTTGCACACAGAAGGCCAGGGGCAGGAGCACAAGAAGCTAAGGGAAGCTGAAGCTGAAGGCGCTGCCAAGGCCTTGGGAGGGGTCCTGGCAATCATCTGTTGAGACTTGTTAAATCCTTTTCCTTAAAAGACTCCCGAAATTGTATCAGTTCCGGCTCCCACAAAAAGCATGGTGTCCCGGCCAGGGGGTGTGTGGCCCAGGAAGGAGCAGGGACCCTCAGCTAGCAAATCGCAAAGTCAACCAAGTCAAAGAAGGGCTGGCGGGCGGGCAGGCCAGAGAAGGCCGCGTGTTTGAATAGGGATAGTGGTCAAAAGCGTTTCCTTTCAGTCAAGGAAATACGAACTTTTCGGCAATCCCCGGGGACATGAGGACTTGCCGGGCCTAGCAACATGTTTCTGACACACCCACAGGGCCGAGGCGAAGGGGAGGGTGAGGACCAGGCCTTCAGAGGCCAGGACATGTGGGAGGGGACCCCAAGCAGAGGGCGGGTAACCCGGGGCCCTCCTTCTTCCCCAGGACACGGCACTACCCACTCACCATCTTGGGTGGGGCCAGCACCAGGATGACGAACCGAACCTCACAGGA
GTGCATGAGCACAGCCTTTGACCCATGCGGCCCCTCCCCTCCCCATGCAGCCCCTCACCTCTTCTTGAATTGGTAGAGGGTGTAGCCCAGCCAGAGCGTGCCCAGCATGATGAGGAGGCTGAGCACGGCGGTCGCCTGGCCTGAGTGTGTGGCCGAGGGCAGCTCCGTGGGGCTGGCGAGGAAGCTGGCGTTGAGGGCAGTGTGGAGGCTGGCGTTGAGGCTGGCGCCGAGGCCTGACAGGCTGACAAGGGATGAAGTCCTTTTTGTGTGATAGTCGTCCAAGTAATGCCCATAGTAGTACTTCCAGAAGACTGTGGACACACACCCACAGGCCTCAGCCCTCTCCAGCGTGTGGCAGGGGGAGGCCCTGGAGGGAGGGGATCTCAGGGAGAAAGGGCTCCAGGGGGAAGGTGAGGGGACCCTGCCGACGTGCCCATGCACCCACACTCCTGCCCACTGTCCCTGTCCCATCTCTGACACCCCATCACAGTCGGCCCAGTGCCTCTGCCCCCACGGCTGGTCCCACCTGGGGCGGCCCCGTCACCCTCCAGCGTGGAGGGCTCTGCCCTCTGCCAGCCCAAGGCTCCCAGAGCACCGCACCCTTGATCACGGGCACACACTCAGCTTGAGCCAGTCCTATGTGCCCCCAGCCAGGGGCAGTGCAGAACCTCCCATCTCGGCTGAGCGCCCTGTTCAGCAGGTGGCCCCCAGCCGCACTCACTTTTAACCGTGCCCTTGACGGCATCCAGCACAAACGTGATGGAAATGAAGAGGGCGATGATCTCCTCCGTCGACCTGCCAGGAGGCCATGAGCCTCATCAGAGTGGGTGTGGTCAGGGGGCAGGTGGGGGAGGCCTCCCTGAGCCCCTGCACAGTCCCCTGCCTCCCCCTGCCAGGAAGAAGGCCAGGGCCCCAGGCCTTGCCTGAGCCCACCCCAGCCCCTTGGGGCAGCAATATGGTGGGGGCACCCCCACCACCCTGGGGTTACAGGGGGCTGAACCAGATCCCAAGCCTTGAGGGTCCCAGCAGCTCACGGAAGGGCCAGTCACCTCTTGAAGAGACTCATGACCAGGCTGAGGTTGAAAAAGGCATAAAGCGCAAGGAAGAAACTATTCCACAGGCCCGTCCATGCGTAGAAGGAGTTGAAGTCCAGGTCATAGTCATCACAGATGACACGAATCACTGCAGGCAGGGGGCAGGGCGGGTCAGGGCCCGGCAGGAACCAGGGGTCTCAGGCACCATCTCCCGCCTCAGCCCCCACTGCACCCTGGATGTAGAGCGCCAGGGGCGCGGTGGTCAGCAGAATCACCAATGGCTGCCCAGAGAAGAGCGCGTAGAGCAGGCCCCCGATGCTCTGCCCGGCTATGGTCTTCTGCACGTCTGTGGGGGTGCGGAGGTCAGGTGGGCGCCGCAGCCCAGGGCCCAGCCCAGCATACCCCCACCCACCGCCCACCGCCAGCCCCTCACCGATGGCCCCGTCTGTGTTCTCGTCATTGAGAGACCCGAAAGCGATGGTGGGCAGGAGGCAGGCGAAGTAGAGGAACAGGGTGGTGGTGATGTATTTGCCCACAGCCTTGTTTTTCCCAATAATGCCTAGGAATGGGGGATGGGAGAGAGGGTTTGCTGGGGATGCAGGACAGGCACACGTGTGGGCCCAAGGCCTGGAAAGCAGAGGCCACGTACCATCAGTGAAGTCCAAGGGGTACAAGGGGAACCTGCGTGCGATGTCCTCCCGGATGCCCTTCCCAAAAGGGACAAAGTCCTTGCACTTTGGGGGCTGGAGGAGAGGACAGAGCGCCTGTTAGCCCTGTCCGGCCCATGCCCCCGCCGACCCTGCCGGCCCCCGCCGGCCTCTACCCTGTACCTCTGGGTGTCTGTGGGCAGGGAGGGAGACTGTGCTGCGTTCCTTCGTTCTCGGCGCCACTGGACCGTGGCTCACCATGGTGAGCAGCTGTCTCTGATGCACCAAGGCCTCCTTGAATTCCTCCTCTGTGCGGGTCTCCAGGAGCTTCTGGCGGAAGGCGATATCCGAGAACATGGTGGCAAACATGCGCGCCACCTCCATCGCAGTCTTAGTGCTTTTCTAGGGGTGGAGGATGGGAGTCACCCCTAGAAACAGAGGAGGCCCTGCCCGGGCCGAGCAGGTGAAGGTGCTCTCCCCATGAACTGGCAGCAGGTTTTTTGTCTGTTTGTTTTTTGTGTTTTTTTGAGACAGGGTCTCACTGTCACCCAGGCTGAGTGCAGTGGCACACTCACGGCTTATCGTAGCCTCGACCTCCCGGGCTCAAGTGATTCTCCCACATCAGTCCCCTGAGTAGCTGGGACCACAGGCACGCACCACCATGCCAGGCAATTTTTAATTTTTAACTTTTTGTAGAGACGAGGTCTCACTATGTTGACCAGGCTGGTCTCAAACTCCTGGCCTCAAGCAATCCATCTGTCTAGGCCTCCCAAAGTGCTGGGATTACAGGCACGAGCCACTGTGCCCAGATGCTGGTAGCAGGTTTTATTCCACAAAGTTCAGGCATTAGTGTACTCTGCCATGATTTCAACCAGGTCAGCAGATCACCGCAACTACCATCGATCTATATTTTTGTTATAAACTCATGATTTCTTATAAACTCAAGATATTACTTTTGTCCTAAGCAACAAAAGTCTGTGTGATCACAGATAATGAAACCACAGTGGAGAAAAATGTTTCCCCAGCTACGTTTCCCCAGTGGTATTTGCACTGTCTGCTGGTTTGACTTTCAGAGAGGGTCCAAGCCCGTCAGGCACTCTCTCTCTCGCCCGGCCAAGGTGAAGCCCGTCCGTGAACCATGAACTCACGAACTCAGTGTCCAGCCCTCATCACAGCAACCTGCTCACCTAGGGGCAGTGTCTGCCCGTCTGTTGCTCAAAGCTCTAGTCCCGGGGCACTGTGCATGTTTGCTGTAGAAGAGGCCCGTGCCTGGCAGGGCATGGTGGCTCACGCCCATAATACCAACTTTTTTGGGAGGCTAAGGCAGGCAGATCACTTGAGGTCAAGAGTTCAAGACCAGCCTGGCCAACATGGTGAAACCCCATCTCTACTAAAAATACAAAATAATTAGCTGGCTGTAGTTTTTGGTGGTGGCGGGTGCCTGTAGTCACAGCTACTTGGGAGGCTGAGGCGGGAGAATCGCTTGAACCTGGGAGGCAGAGGTTGCAGTGAGCTGAGATCACACCTCAACATTCCAGCCTGGGTGACAGAGTGAGACTCTGTCTCAAAGATAAATAAATAAAACAAACAAATAAACAAATACAAAACCCCAAAAGAACTAGTCCATGCTCCTGAGGAGGAGCCCAGTGTCGGGCTGGGGGATCTGCCTCAAGGCACCAGGCTTTAACTCAGCTCTGGGCTATTGCTCCTTCTGTGTGGGCACCCTGCTGGGGGCCACTCCTTCCAACCCAGGGGCTGCCCTTCCTCTCACACCAGCACAGTTGCATTTGTGGAGGTTCCCGCCATGTCTGAGATCCCTGAGAACCCCATTTGCACACAGAAGGCCAGGGGCAGGAGCACAAGAAGCTAAGGGAAGCTGAAGCTGAAGGCGCTGCCAAGGCCTTGGGAGGGGTCCTGGCAATCATCTGTTGAGACTTGTTAAATCCTTTTCCTTAAAAGACTCCCGAAATTGTATCAGTTCCGGCTCCCACAAAAAGCATGGTGTCCCGGCCAGGGGGTGTGTGGCCCAGGAAGGAGCAGGGACCCTCAGCTAGCAAATCGCAAAGTCAACCAAGTCAAAGAAGGGCTGGCGGGCGGGCAGGCCAGAGAAGGCCGCGTGTTTGAATAGGGATAGTGGTCAAAAGCGTTTCCTTTCAGTCAAGGAAATACGAACTTTTCGGCAATCCCCGGGGACATGAGGACTTGCCGGGCCTAGCAACATGTTTCTGACACACCCACAGGGCCGAGGCGAAGGGGAGGGTGAGGACCAGGCCTTCAGAGGCCAGGACATGTGGGAGGGGACCCCAAGCAGAGGGCGGGTAACCCGGGGCCCTCCTTCTTCCCCAGGACACGGCACTACCCACTCACCATCTTGGGTGGGGCCAGCACCAGGATGACGAACCGAACCTCACAGGA
Task1_train_27649
A variant on Chromosome 20 in gene SLC4A11 (solute carrier family 4 member 11) has been observed. Is this a neutral mutation, or does it result in a disease? If so, which one?
Pathogenic; Corneal dystrophy-perceptive deafness syndrome
CCTCAAGCAATCCATCTGTCTAGGCCTCCCAAAGTGCTGGGATTACAGGCACGAGCCACTGTGCCCAGATGCTGGTAGCAGGTTTTATTCCACAAAGTTCAGGCATTAGTGTACTCTGCCATGATTTCAACCAGGTCAGCAGATCACCGCAACTACCATCGATCTATATTTTTGTTATAAACTCATGATTTCTTATAAACTCAAGATATTACTTTTGTCCTAAGCAACAAAAGTCTGTGTGATCACAGATAATGAAACCACAGTGGAGAAAAATGTTTCCCCAGCTACGTTTCCCCAGTGGTATTTGCACTGTCTGCTGGTTTGACTTTCAGAGAGGGTCCAAGCCCGTCAGGCACTCTCTCTCTCGCCCGGCCAAGGTGAAGCCCGTCCGTGAACCATGAACTCACGAACTCAGTGTCCAGCCCTCATCACAGCAACCTGCTCACCTAGGGGCAGTGTCTGCCCGTCTGTTGCTCAAAGCTCTAGTCCCGGGGCACTGTGCATGTTTGCTGTAGAAGAGGCCCGTGCCTGGCAGGGCATGGTGGCTCACGCCCATAATACCAACTTTTTTGGGAGGCTAAGGCAGGCAGATCACTTGAGGTCAAGAGTTCAAGACCAGCCTGGCCAACATGGTGAAACCCCATCTCTACTAAAAATACAAAATAATTAGCTGGCTGTAGTTTTTGGTGGTGGCGGGTGCCTGTAGTCACAGCTACTTGGGAGGCTGAGGCGGGAGAATCGCTTGAACCTGGGAGGCAGAGGTTGCAGTGAGCTGAGATCACACCTCAACATTCCAGCCTGGGTGACAGAGTGAGACTCTGTCTCAAAGATAAATAAATAAAACAAACAAATAAACAAATACAAAACCCCAAAAGAACTAGTCCATGCTCCTGAGGAGGAGCCCAGTGTCGGGCTGGGGGATCTGCCTCAAGGCACCAGGCTTTAACTCAGCTCTGGGCTATTGCTCCTTCTGTGTGGGCACCCTGCTGGGGGCCACTCCTTCCAACCCAGGGGCTGCCCTTCCTCTCACACCAGCACAGTTGCATTTGTGGAGGTTCCCGCCATGTCTGAGATCCCTGAGAACCCCATTTGCACACAGAAGGCCAGGGGCAGGAGCACAAGAAGCTAAGGGAAGCTGAAGCTGAAGGCGCTGCCAAGGCCTTGGGAGGGGTCCTGGCAATCATCTGTTGAGACTTGTTAAATCCTTTTCCTTAAAAGACTCCCGAAATTGTATCAGTTCCGGCTCCCACAAAAAGCATGGTGTCCCGGCCAGGGGGTGTGTGGCCCAGGAAGGAGCAGGGACCCTCAGCTAGCAAATCGCAAAGTCAACCAAGTCAAAGAAGGGCTGGCGGGCGGGCAGGCCAGAGAAGGCCGCGTGTTTGAATAGGGATAGTGGTCAAAAGCGTTTCCTTTCAGTCAAGGAAATACGAACTTTTCGGCAATCCCCGGGGACATGAGGACTTGCCGGGCCTAGCAACATGTTTCTGACACACCCACAGGGCCGAGGCGAAGGGGAGGGTGAGGACCAGGCCTTCAGAGGCCAGGACATGTGGGAGGGGACCCCAAGCAGAGGGCGGGTAACCCGGGGCCCTCCTTCTTCCCCAGGACACGGCACTACCCACTCACCATCTTGGGTGGGGCCAGCACCAGGATGACGAACCGAACCTCACAGGAATTCTCCCCCCAGTTCTGTGGGCGAACCAGGCGGCTGATGCACACGTGCCGCTTCTGTAGGGCCTTCATGGTACAGCTGGCAGGGGCGGGGAGGACACAGTGCACAGTTGCACCCCAGGGAGCTGGGGCTCCCCGACCCAGAACCCCCTCGACCTTGACCCCTGGCGACCTCTGCTAGGGAGGGAAAAGAAGAGCAAATGGGACGTTCCTTGGCAGTGCTCCAGCCCTCTTCTCCCAAGTTGGTTGGGCCGCCAGAGCCCCAGGACTCACAGGTGGGCTGGCCTCTGCAGGGCACAGGGGACATGGGACACCCAGTTCCACTGCGACAAGAAGGGGGGCCAAGTGGCCTGGCAACTCACATGATGCAGAGCCACGACTGCTGGTACCGCACCCCTGTCACTGTGGCGGTGACCCCTTGGATGGTATCTGACAGCAGGTGGACTGAGGAAAGAGTGAGGGGGAGGGTGGTGGGTCAACAGCCCCTCCCAACGCCCCCGCCCGGGCCGGGAGACCGGCCTCACCTTTACCCCGCATGGGTGCCCCGGCATCGGTGAAGAGCATGGCCATGAGCAGGTCCAGGTTGCAGTTGGGCTCATTGTTGTCAGGGTCCCTGGCGAAGCGGCGAAGCATGGTCCGCAGCACGTTATCCAGGGAGGTGGCCGTCTCGTTCAGGACGATGCTGGCCTGCGCCAGGAAGCCATCTAGGTCGCGGTGCGCACGGATCTCTTCCTTGAAGTTCTTTAACTTCAGGTACTGAGGGGACCCCAGGGACAGAACCACACGGGCCCATGTATGAGATGCTGTCACTGCCTGGTCCCTCCCTCCCAGCCAGCCGCAGCAGTCCAGCCCCCAGCCCCCAGCCCCCAGCCCTGGGCTGGTGCGAGCTCCCTGTTGAGCTGCTCCTGGAGGCATGGGAAGAGGGGAGCAGCGGGAGGATTCTCAGGGAAGCCATCACCTCAGCCCCCAGGTAGAGGCCCCAGGACCACCTGCAGGACAGGCCATTCACCTTTCGGGAGGTGTGCAGGAGCACACAGCCACCGGAAGTCGCTTCATTCTCTGCCGGAGAAAAGCGGGGAGGGCTCAGGGTGCCACCCTCTCCTCAGGTCTTTCTTAGTAAGGCGAGTCACACCTGCCCAGTCCCGTGCCTTCCCCCAGTCTGCCCCTGCTGCAGCCCCCATACCAGTGTTGGTGGCCTGCATCTCAAGGTTGACATTGACAAAAAAACGGATACTCTCGCCAGACACGATGGAGGAGTTGGCAGTGTCGAAGGCCTCATCCCCCAGGATCTCCTCTCGGGCTTCGAAGGTGTCATCTGTGTCACACTTGTAGTAGCCTAGAGACCCCCAAGAGCAAGAGGGCCTGGCTGTTAAAGTGCCACACACAGGAAGGAGGGGCTCCAAGCCCAGGGAGCAGGGACCCCTGGACTGTCCCACTCTCGGGCCGTGGTGGGAGAGGCCATCCCATAGGCGAGGAAGGCAGCTTCTAGTCCTGCCCCAGCCCCACACAGGACATGGCAGCTGCCACAAAGTGAGTCTCCAGCATTCCCTAGCCGCTGAGACCAGGACCCTGCGCAGCTTTGACCCTTCAGCGTGAGAAAAACATGTCCACTCCAGACACATTGGGGCAGGCACGGAGTGCAATAATGCAGATGAGACTGCCTGGCCCCTGCCCTCCCAAAGTAGGGAACACAGGGAAGGCAGAGAAGCTGCAGTATCCACGTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCACACACACACACACACACACACACACACACACACACACACACACGCTGCCTTGTGGGCACAGGGTCTTAGAGCTCCGCCTCCCCAGGAGGGCAGGTGGGGAGAAGCATCGAGGCTGAGAGACCCAGGACAGGTATCAGACAAGGTCTAGGGAGCAGGAAAACCAGGGAAACAGAGCCAGGGGCTGACAGGGGAGAGGACCCCAAGGCCTCATGTCAGCCCTGCCCCCATCGTGCTCCTCTTCATGTTCTGGGGGCCCTGGGTAAGGGCACATGGAGAGTGAGGGTGTGTAATGGCACCTGTGGGATGTGGGACCCCAGAGGTGAGAGCCTGCTCCCCTTGGTCCTCAATTCCTGCAGCTGGCCAGCAGCACACCCCTCTTCCTACAGGAAGATTTCCTGGTAACATGCAAATATTCCTCTGCCCTGAGCCCTGCAGTGGCTCCCTGCAGCCTACAGATCACAGCCTGAGCCAGCCCTGCTCCCCCTGCCCTGACCACTGGCTCCTCAGGCCATCCGGTCAGCACCCTAGGCATGCAAGGTCCTGTCCTCCAAGCTGAGGGCTTCCCTCCCTGGAGGGCCTTTTTCAAGACTCACTTGGAACCTCCTCCTCCAGGAAGTCCTCCTAGATCCCTGCCTCACCCCTGGCCACTGGCAGCCCTTCCTGTCTTGTGGG
CCTCAAGCAATCCATCTGTCTAGGCCTCCCAAAGTGCTGGGATTACAGGCACGAGCCACTGTGCCCAGATGCTGGTAGCAGGTTTTATTCCACAAAGTTCAGGCATTAGTGTACTCTGCCATGATTTCAACCAGGTCAGCAGATCACCGCAACTACCATCGATCTATATTTTTGTTATAAACTCATGATTTCTTATAAACTCAAGATATTACTTTTGTCCTAAGCAACAAAAGTCTGTGTGATCACAGATAATGAAACCACAGTGGAGAAAAATGTTTCCCCAGCTACGTTTCCCCAGTGGTATTTGCACTGTCTGCTGGTTTGACTTTCAGAGAGGGTCCAAGCCCGTCAGGCACTCTCTCTCTCGCCCGGCCAAGGTGAAGCCCGTCCGTGAACCATGAACTCACGAACTCAGTGTCCAGCCCTCATCACAGCAACCTGCTCACCTAGGGGCAGTGTCTGCCCGTCTGTTGCTCAAAGCTCTAGTCCCGGGGCACTGTGCATGTTTGCTGTAGAAGAGGCCCGTGCCTGGCAGGGCATGGTGGCTCACGCCCATAATACCAACTTTTTTGGGAGGCTAAGGCAGGCAGATCACTTGAGGTCAAGAGTTCAAGACCAGCCTGGCCAACATGGTGAAACCCCATCTCTACTAAAAATACAAAATAATTAGCTGGCTGTAGTTTTTGGTGGTGGCGGGTGCCTGTAGTCACAGCTACTTGGGAGGCTGAGGCGGGAGAATCGCTTGAACCTGGGAGGCAGAGGTTGCAGTGAGCTGAGATCACACCTCAACATTCCAGCCTGGGTGACAGAGTGAGACTCTGTCTCAAAGATAAATAAATAAAACAAACAAATAAACAAATACAAAACCCCAAAAGAACTAGTCCATGCTCCTGAGGAGGAGCCCAGTGTCGGGCTGGGGGATCTGCCTCAAGGCACCAGGCTTTAACTCAGCTCTGGGCTATTGCTCCTTCTGTGTGGGCACCCTGCTGGGGGCCACTCCTTCCAACCCAGGGGCTGCCCTTCCTCTCACACCAGCACAGTTGCATTTGTGGAGGTTCCCGCCATGTCTGAGATCCCTGAGAACCCCATTTGCACACAGAAGGCCAGGGGCAGGAGCACAAGAAGCTAAGGGAAGCTGAAGCTGAAGGCGCTGCCAAGGCCTTGGGAGGGGTCCTGGCAATCATCTGTTGAGACTTGTTAAATCCTTTTCCTTAAAAGACTCCCGAAATTGTATCAGTTCCGGCTCCCACAAAAAGCATGGTGTCCCGGCCAGGGGGTGTGTGGCCCAGGAAGGAGCAGGGACCCTCAGCTAGCAAATCGCAAAGTCAACCAAGTCAAAGAAGGGCTGGCGGGCGGGCAGGCCAGAGAAGGCCGCGTGTTTGAATAGGGATAGTGGTCAAAAGCGTTTCCTTTCAGTCAAGGAAATACGAACTTTTCGGCAATCCCCGGGGACATGAGGACTTGCCGGGCCTAGCAACATGTTTCTGACACACCCACAGGGCCGAGGCGAAGGGGAGGGTGAGGACCAGGCCTTCAGAGGCCAGGACATGTGGGAGGGGACCCCAAGCAGAGGGCGGGTAACCCGGGGCCCTCCTTCTTCCCCAGGACACGGCACTACCCACTCACCATCTTGGGTGGGGCCAGCACCAGGATGACGAACCGAACCTCACAGGAATTCTCCCCCCAGTTCTGTGGGCGAACCAGGCGGCTGATGCACACGTGCCGCTTCTGTAGGGCCTTCATGGTACAGCTGGCAGGGGCGGGGAGGACACAGTGCACAGTTGCACCCCAGGGAGCTGGGGCTCCCCGACCCAGAACCCCCTCGACCTTGACCCCTGGCGACCTCTGCTAGGGAGGGAAAAGAAGAGCAAATGGGACGTTCCTTGGCAGTGCTCCAGCCCTCTTCTCCCAAGTTGGTTGGGCCGCCAGAGCCCCAGGACTCACAGGTGGGCTGGCCTCTGCAGGGCACAGGGGACATGGGACACCCAGTTCCACTGCGACAAGAAGGGGGGCCAAGTGGCCTGGCAACTCACATGATGCAGAGCCACAACTGCTGGTACCGCACCCCTGTCACTGTGGCGGTGACCCCTTGGATGGTATCTGACAGCAGGTGGACTGAGGAAAGAGTGAGGGGGAGGGTGGTGGGTCAACAGCCCCTCCCAACGCCCCCGCCCGGGCCGGGAGACCGGCCTCACCTTTACCCCGCATGGGTGCCCCGGCATCGGTGAAGAGCATGGCCATGAGCAGGTCCAGGTTGCAGTTGGGCTCATTGTTGTCAGGGTCCCTGGCGAAGCGGCGAAGCATGGTCCGCAGCACGTTATCCAGGGAGGTGGCCGTCTCGTTCAGGACGATGCTGGCCTGCGCCAGGAAGCCATCTAGGTCGCGGTGCGCACGGATCTCTTCCTTGAAGTTCTTTAACTTCAGGTACTGAGGGGACCCCAGGGACAGAACCACACGGGCCCATGTATGAGATGCTGTCACTGCCTGGTCCCTCCCTCCCAGCCAGCCGCAGCAGTCCAGCCCCCAGCCCCCAGCCCCCAGCCCTGGGCTGGTGCGAGCTCCCTGTTGAGCTGCTCCTGGAGGCATGGGAAGAGGGGAGCAGCGGGAGGATTCTCAGGGAAGCCATCACCTCAGCCCCCAGGTAGAGGCCCCAGGACCACCTGCAGGACAGGCCATTCACCTTTCGGGAGGTGTGCAGGAGCACACAGCCACCGGAAGTCGCTTCATTCTCTGCCGGAGAAAAGCGGGGAGGGCTCAGGGTGCCACCCTCTCCTCAGGTCTTTCTTAGTAAGGCGAGTCACACCTGCCCAGTCCCGTGCCTTCCCCCAGTCTGCCCCTGCTGCAGCCCCCATACCAGTGTTGGTGGCCTGCATCTCAAGGTTGACATTGACAAAAAAACGGATACTCTCGCCAGACACGATGGAGGAGTTGGCAGTGTCGAAGGCCTCATCCCCCAGGATCTCCTCTCGGGCTTCGAAGGTGTCATCTGTGTCACACTTGTAGTAGCCTAGAGACCCCCAAGAGCAAGAGGGCCTGGCTGTTAAAGTGCCACACACAGGAAGGAGGGGCTCCAAGCCCAGGGAGCAGGGACCCCTGGACTGTCCCACTCTCGGGCCGTGGTGGGAGAGGCCATCCCATAGGCGAGGAAGGCAGCTTCTAGTCCTGCCCCAGCCCCACACAGGACATGGCAGCTGCCACAAAGTGAGTCTCCAGCATTCCCTAGCCGCTGAGACCAGGACCCTGCGCAGCTTTGACCCTTCAGCGTGAGAAAAACATGTCCACTCCAGACACATTGGGGCAGGCACGGAGTGCAATAATGCAGATGAGACTGCCTGGCCCCTGCCCTCCCAAAGTAGGGAACACAGGGAAGGCAGAGAAGCTGCAGTATCCACGTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCACACACACACACACACACACACACACACACACACACACACACACGCTGCCTTGTGGGCACAGGGTCTTAGAGCTCCGCCTCCCCAGGAGGGCAGGTGGGGAGAAGCATCGAGGCTGAGAGACCCAGGACAGGTATCAGACAAGGTCTAGGGAGCAGGAAAACCAGGGAAACAGAGCCAGGGGCTGACAGGGGAGAGGACCCCAAGGCCTCATGTCAGCCCTGCCCCCATCGTGCTCCTCTTCATGTTCTGGGGGCCCTGGGTAAGGGCACATGGAGAGTGAGGGTGTGTAATGGCACCTGTGGGATGTGGGACCCCAGAGGTGAGAGCCTGCTCCCCTTGGTCCTCAATTCCTGCAGCTGGCCAGCAGCACACCCCTCTTCCTACAGGAAGATTTCCTGGTAACATGCAAATATTCCTCTGCCCTGAGCCCTGCAGTGGCTCCCTGCAGCCTACAGATCACAGCCTGAGCCAGCCCTGCTCCCCCTGCCCTGACCACTGGCTCCTCAGGCCATCCGGTCAGCACCCTAGGCATGCAAGGTCCTGTCCTCCAAGCTGAGGGCTTCCCTCCCTGGAGGGCCTTTTTCAAGACTCACTTGGAACCTCCTCCTCCAGGAAGTCCTCCTAGATCCCTGCCTCACCCCTGGCCACTGGCAGCCCTTCCTGTCTTGTGGG
Task1_train_27650
A variant found in Chromosome 20 affects SLC4A11 (solute carrier family 4 member 11). Please analyze its biological impact: is it benign or pathogenic, and what condition might it cause?
Pathogenic; Corneal dystrophy-perceptive deafness syndrome
CTCAAGCAATCCATCTGTCTAGGCCTCCCAAAGTGCTGGGATTACAGGCACGAGCCACTGTGCCCAGATGCTGGTAGCAGGTTTTATTCCACAAAGTTCAGGCATTAGTGTACTCTGCCATGATTTCAACCAGGTCAGCAGATCACCGCAACTACCATCGATCTATATTTTTGTTATAAACTCATGATTTCTTATAAACTCAAGATATTACTTTTGTCCTAAGCAACAAAAGTCTGTGTGATCACAGATAATGAAACCACAGTGGAGAAAAATGTTTCCCCAGCTACGTTTCCCCAGTGGTATTTGCACTGTCTGCTGGTTTGACTTTCAGAGAGGGTCCAAGCCCGTCAGGCACTCTCTCTCTCGCCCGGCCAAGGTGAAGCCCGTCCGTGAACCATGAACTCACGAACTCAGTGTCCAGCCCTCATCACAGCAACCTGCTCACCTAGGGGCAGTGTCTGCCCGTCTGTTGCTCAAAGCTCTAGTCCCGGGGCACTGTGCATGTTTGCTGTAGAAGAGGCCCGTGCCTGGCAGGGCATGGTGGCTCACGCCCATAATACCAACTTTTTTGGGAGGCTAAGGCAGGCAGATCACTTGAGGTCAAGAGTTCAAGACCAGCCTGGCCAACATGGTGAAACCCCATCTCTACTAAAAATACAAAATAATTAGCTGGCTGTAGTTTTTGGTGGTGGCGGGTGCCTGTAGTCACAGCTACTTGGGAGGCTGAGGCGGGAGAATCGCTTGAACCTGGGAGGCAGAGGTTGCAGTGAGCTGAGATCACACCTCAACATTCCAGCCTGGGTGACAGAGTGAGACTCTGTCTCAAAGATAAATAAATAAAACAAACAAATAAACAAATACAAAACCCCAAAAGAACTAGTCCATGCTCCTGAGGAGGAGCCCAGTGTCGGGCTGGGGGATCTGCCTCAAGGCACCAGGCTTTAACTCAGCTCTGGGCTATTGCTCCTTCTGTGTGGGCACCCTGCTGGGGGCCACTCCTTCCAACCCAGGGGCTGCCCTTCCTCTCACACCAGCACAGTTGCATTTGTGGAGGTTCCCGCCATGTCTGAGATCCCTGAGAACCCCATTTGCACACAGAAGGCCAGGGGCAGGAGCACAAGAAGCTAAGGGAAGCTGAAGCTGAAGGCGCTGCCAAGGCCTTGGGAGGGGTCCTGGCAATCATCTGTTGAGACTTGTTAAATCCTTTTCCTTAAAAGACTCCCGAAATTGTATCAGTTCCGGCTCCCACAAAAAGCATGGTGTCCCGGCCAGGGGGTGTGTGGCCCAGGAAGGAGCAGGGACCCTCAGCTAGCAAATCGCAAAGTCAACCAAGTCAAAGAAGGGCTGGCGGGCGGGCAGGCCAGAGAAGGCCGCGTGTTTGAATAGGGATAGTGGTCAAAAGCGTTTCCTTTCAGTCAAGGAAATACGAACTTTTCGGCAATCCCCGGGGACATGAGGACTTGCCGGGCCTAGCAACATGTTTCTGACACACCCACAGGGCCGAGGCGAAGGGGAGGGTGAGGACCAGGCCTTCAGAGGCCAGGACATGTGGGAGGGGACCCCAAGCAGAGGGCGGGTAACCCGGGGCCCTCCTTCTTCCCCAGGACACGGCACTACCCACTCACCATCTTGGGTGGGGCCAGCACCAGGATGACGAACCGAACCTCACAGGAATTCTCCCCCCAGTTCTGTGGGCGAACCAGGCGGCTGATGCACACGTGCCGCTTCTGTAGGGCCTTCATGGTACAGCTGGCAGGGGCGGGGAGGACACAGTGCACAGTTGCACCCCAGGGAGCTGGGGCTCCCCGACCCAGAACCCCCTCGACCTTGACCCCTGGCGACCTCTGCTAGGGAGGGAAAAGAAGAGCAAATGGGACGTTCCTTGGCAGTGCTCCAGCCCTCTTCTCCCAAGTTGGTTGGGCCGCCAGAGCCCCAGGACTCACAGGTGGGCTGGCCTCTGCAGGGCACAGGGGACATGGGACACCCAGTTCCACTGCGACAAGAAGGGGGGCCAAGTGGCCTGGCAACTCACATGATGCAGAGCCACGACTGCTGGTACCGCACCCCTGTCACTGTGGCGGTGACCCCTTGGATGGTATCTGACAGCAGGTGGACTGAGGAAAGAGTGAGGGGGAGGGTGGTGGGTCAACAGCCCCTCCCAACGCCCCCGCCCGGGCCGGGAGACCGGCCTCACCTTTACCCCGCATGGGTGCCCCGGCATCGGTGAAGAGCATGGCCATGAGCAGGTCCAGGTTGCAGTTGGGCTCATTGTTGTCAGGGTCCCTGGCGAAGCGGCGAAGCATGGTCCGCAGCACGTTATCCAGGGAGGTGGCCGTCTCGTTCAGGACGATGCTGGCCTGCGCCAGGAAGCCATCTAGGTCGCGGTGCGCACGGATCTCTTCCTTGAAGTTCTTTAACTTCAGGTACTGAGGGGACCCCAGGGACAGAACCACACGGGCCCATGTATGAGATGCTGTCACTGCCTGGTCCCTCCCTCCCAGCCAGCCGCAGCAGTCCAGCCCCCAGCCCCCAGCCCCCAGCCCTGGGCTGGTGCGAGCTCCCTGTTGAGCTGCTCCTGGAGGCATGGGAAGAGGGGAGCAGCGGGAGGATTCTCAGGGAAGCCATCACCTCAGCCCCCAGGTAGAGGCCCCAGGACCACCTGCAGGACAGGCCATTCACCTTTCGGGAGGTGTGCAGGAGCACACAGCCACCGGAAGTCGCTTCATTCTCTGCCGGAGAAAAGCGGGGAGGGCTCAGGGTGCCACCCTCTCCTCAGGTCTTTCTTAGTAAGGCGAGTCACACCTGCCCAGTCCCGTGCCTTCCCCCAGTCTGCCCCTGCTGCAGCCCCCATACCAGTGTTGGTGGCCTGCATCTCAAGGTTGACATTGACAAAAAAACGGATACTCTCGCCAGACACGATGGAGGAGTTGGCAGTGTCGAAGGCCTCATCCCCCAGGATCTCCTCTCGGGCTTCGAAGGTGTCATCTGTGTCACACTTGTAGTAGCCTAGAGACCCCCAAGAGCAAGAGGGCCTGGCTGTTAAAGTGCCACACACAGGAAGGAGGGGCTCCAAGCCCAGGGAGCAGGGACCCCTGGACTGTCCCACTCTCGGGCCGTGGTGGGAGAGGCCATCCCATAGGCGAGGAAGGCAGCTTCTAGTCCTGCCCCAGCCCCACACAGGACATGGCAGCTGCCACAAAGTGAGTCTCCAGCATTCCCTAGCCGCTGAGACCAGGACCCTGCGCAGCTTTGACCCTTCAGCGTGAGAAAAACATGTCCACTCCAGACACATTGGGGCAGGCACGGAGTGCAATAATGCAGATGAGACTGCCTGGCCCCTGCCCTCCCAAAGTAGGGAACACAGGGAAGGCAGAGAAGCTGCAGTATCCACGTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCACACACACACACACACACACACACACACACACACACACACACACGCTGCCTTGTGGGCACAGGGTCTTAGAGCTCCGCCTCCCCAGGAGGGCAGGTGGGGAGAAGCATCGAGGCTGAGAGACCCAGGACAGGTATCAGACAAGGTCTAGGGAGCAGGAAAACCAGGGAAACAGAGCCAGGGGCTGACAGGGGAGAGGACCCCAAGGCCTCATGTCAGCCCTGCCCCCATCGTGCTCCTCTTCATGTTCTGGGGGCCCTGGGTAAGGGCACATGGAGAGTGAGGGTGTGTAATGGCACCTGTGGGATGTGGGACCCCAGAGGTGAGAGCCTGCTCCCCTTGGTCCTCAATTCCTGCAGCTGGCCAGCAGCACACCCCTCTTCCTACAGGAAGATTTCCTGGTAACATGCAAATATTCCTCTGCCCTGAGCCCTGCAGTGGCTCCCTGCAGCCTACAGATCACAGCCTGAGCCAGCCCTGCTCCCCCTGCCCTGACCACTGGCTCCTCAGGCCATCCGGTCAGCACCCTAGGCATGCAAGGTCCTGTCCTCCAAGCTGAGGGCTTCCCTCCCTGGAGGGCCTTTTTCAAGACTCACTTGGAACCTCCTCCTCCAGGAAGTCCTCCTAGATCCCTGCCTCACCCCTGGCCACTGGCAGCCCTTCCTGTCTTGTGGGT
CTCAAGCAATCCATCTGTCTAGGCCTCCCAAAGTGCTGGGATTACAGGCACGAGCCACTGTGCCCAGATGCTGGTAGCAGGTTTTATTCCACAAAGTTCAGGCATTAGTGTACTCTGCCATGATTTCAACCAGGTCAGCAGATCACCGCAACTACCATCGATCTATATTTTTGTTATAAACTCATGATTTCTTATAAACTCAAGATATTACTTTTGTCCTAAGCAACAAAAGTCTGTGTGATCACAGATAATGAAACCACAGTGGAGAAAAATGTTTCCCCAGCTACGTTTCCCCAGTGGTATTTGCACTGTCTGCTGGTTTGACTTTCAGAGAGGGTCCAAGCCCGTCAGGCACTCTCTCTCTCGCCCGGCCAAGGTGAAGCCCGTCCGTGAACCATGAACTCACGAACTCAGTGTCCAGCCCTCATCACAGCAACCTGCTCACCTAGGGGCAGTGTCTGCCCGTCTGTTGCTCAAAGCTCTAGTCCCGGGGCACTGTGCATGTTTGCTGTAGAAGAGGCCCGTGCCTGGCAGGGCATGGTGGCTCACGCCCATAATACCAACTTTTTTGGGAGGCTAAGGCAGGCAGATCACTTGAGGTCAAGAGTTCAAGACCAGCCTGGCCAACATGGTGAAACCCCATCTCTACTAAAAATACAAAATAATTAGCTGGCTGTAGTTTTTGGTGGTGGCGGGTGCCTGTAGTCACAGCTACTTGGGAGGCTGAGGCGGGAGAATCGCTTGAACCTGGGAGGCAGAGGTTGCAGTGAGCTGAGATCACACCTCAACATTCCAGCCTGGGTGACAGAGTGAGACTCTGTCTCAAAGATAAATAAATAAAACAAACAAATAAACAAATACAAAACCCCAAAAGAACTAGTCCATGCTCCTGAGGAGGAGCCCAGTGTCGGGCTGGGGGATCTGCCTCAAGGCACCAGGCTTTAACTCAGCTCTGGGCTATTGCTCCTTCTGTGTGGGCACCCTGCTGGGGGCCACTCCTTCCAACCCAGGGGCTGCCCTTCCTCTCACACCAGCACAGTTGCATTTGTGGAGGTTCCCGCCATGTCTGAGATCCCTGAGAACCCCATTTGCACACAGAAGGCCAGGGGCAGGAGCACAAGAAGCTAAGGGAAGCTGAAGCTGAAGGCGCTGCCAAGGCCTTGGGAGGGGTCCTGGCAATCATCTGTTGAGACTTGTTAAATCCTTTTCCTTAAAAGACTCCCGAAATTGTATCAGTTCCGGCTCCCACAAAAAGCATGGTGTCCCGGCCAGGGGGTGTGTGGCCCAGGAAGGAGCAGGGACCCTCAGCTAGCAAATCGCAAAGTCAACCAAGTCAAAGAAGGGCTGGCGGGCGGGCAGGCCAGAGAAGGCCGCGTGTTTGAATAGGGATAGTGGTCAAAAGCGTTTCCTTTCAGTCAAGGAAATACGAACTTTTCGGCAATCCCCGGGGACATGAGGACTTGCCGGGCCTAGCAACATGTTTCTGACACACCCACAGGGCCGAGGCGAAGGGGAGGGTGAGGACCAGGCCTTCAGAGGCCAGGACATGTGGGAGGGGACCCCAAGCAGAGGGCGGGTAACCCGGGGCCCTCCTTCTTCCCCAGGACACGGCACTACCCACTCACCATCTTGGGTGGGGCCAGCACCAGGATGACGAACCGAACCTCACAGGAATTCTCCCCCCAGTTCTGTGGGCGAACCAGGCGGCTGATGCACACGTGCCGCTTCTGTAGGGCCTTCATGGTACAGCTGGCAGGGGCGGGGAGGACACAGTGCACAGTTGCACCCCAGGGAGCTGGGGCTCCCCGACCCAGAACCCCCTCGACCTTGACCCCTGGCGACCTCTGCTAGGGAGGGAAAAGAAGAGCAAATGGGACGTTCCTTGGCAGTGCTCCAGCCCTCTTCTCCCAAGTTGGTTGGGCCGCCAGAGCCCCAGGACTCACAGGTGGGCTGGCCTCTGCAGGGCACAGGGGACATGGGACACCCAGTTCCACTGCGACAAGAAGGGGGGCCAAGTGGCCTGGCAACTCACATGATGCAGAGCCACGGCTGCTGGTACCGCACCCCTGTCACTGTGGCGGTGACCCCTTGGATGGTATCTGACAGCAGGTGGACTGAGGAAAGAGTGAGGGGGAGGGTGGTGGGTCAACAGCCCCTCCCAACGCCCCCGCCCGGGCCGGGAGACCGGCCTCACCTTTACCCCGCATGGGTGCCCCGGCATCGGTGAAGAGCATGGCCATGAGCAGGTCCAGGTTGCAGTTGGGCTCATTGTTGTCAGGGTCCCTGGCGAAGCGGCGAAGCATGGTCCGCAGCACGTTATCCAGGGAGGTGGCCGTCTCGTTCAGGACGATGCTGGCCTGCGCCAGGAAGCCATCTAGGTCGCGGTGCGCACGGATCTCTTCCTTGAAGTTCTTTAACTTCAGGTACTGAGGGGACCCCAGGGACAGAACCACACGGGCCCATGTATGAGATGCTGTCACTGCCTGGTCCCTCCCTCCCAGCCAGCCGCAGCAGTCCAGCCCCCAGCCCCCAGCCCCCAGCCCTGGGCTGGTGCGAGCTCCCTGTTGAGCTGCTCCTGGAGGCATGGGAAGAGGGGAGCAGCGGGAGGATTCTCAGGGAAGCCATCACCTCAGCCCCCAGGTAGAGGCCCCAGGACCACCTGCAGGACAGGCCATTCACCTTTCGGGAGGTGTGCAGGAGCACACAGCCACCGGAAGTCGCTTCATTCTCTGCCGGAGAAAAGCGGGGAGGGCTCAGGGTGCCACCCTCTCCTCAGGTCTTTCTTAGTAAGGCGAGTCACACCTGCCCAGTCCCGTGCCTTCCCCCAGTCTGCCCCTGCTGCAGCCCCCATACCAGTGTTGGTGGCCTGCATCTCAAGGTTGACATTGACAAAAAAACGGATACTCTCGCCAGACACGATGGAGGAGTTGGCAGTGTCGAAGGCCTCATCCCCCAGGATCTCCTCTCGGGCTTCGAAGGTGTCATCTGTGTCACACTTGTAGTAGCCTAGAGACCCCCAAGAGCAAGAGGGCCTGGCTGTTAAAGTGCCACACACAGGAAGGAGGGGCTCCAAGCCCAGGGAGCAGGGACCCCTGGACTGTCCCACTCTCGGGCCGTGGTGGGAGAGGCCATCCCATAGGCGAGGAAGGCAGCTTCTAGTCCTGCCCCAGCCCCACACAGGACATGGCAGCTGCCACAAAGTGAGTCTCCAGCATTCCCTAGCCGCTGAGACCAGGACCCTGCGCAGCTTTGACCCTTCAGCGTGAGAAAAACATGTCCACTCCAGACACATTGGGGCAGGCACGGAGTGCAATAATGCAGATGAGACTGCCTGGCCCCTGCCCTCCCAAAGTAGGGAACACAGGGAAGGCAGAGAAGCTGCAGTATCCACGTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCACACACACACACACACACACACACACACACACACACACACACACGCTGCCTTGTGGGCACAGGGTCTTAGAGCTCCGCCTCCCCAGGAGGGCAGGTGGGGAGAAGCATCGAGGCTGAGAGACCCAGGACAGGTATCAGACAAGGTCTAGGGAGCAGGAAAACCAGGGAAACAGAGCCAGGGGCTGACAGGGGAGAGGACCCCAAGGCCTCATGTCAGCCCTGCCCCCATCGTGCTCCTCTTCATGTTCTGGGGGCCCTGGGTAAGGGCACATGGAGAGTGAGGGTGTGTAATGGCACCTGTGGGATGTGGGACCCCAGAGGTGAGAGCCTGCTCCCCTTGGTCCTCAATTCCTGCAGCTGGCCAGCAGCACACCCCTCTTCCTACAGGAAGATTTCCTGGTAACATGCAAATATTCCTCTGCCCTGAGCCCTGCAGTGGCTCCCTGCAGCCTACAGATCACAGCCTGAGCCAGCCCTGCTCCCCCTGCCCTGACCACTGGCTCCTCAGGCCATCCGGTCAGCACCCTAGGCATGCAAGGTCCTGTCCTCCAAGCTGAGGGCTTCCCTCCCTGGAGGGCCTTTTTCAAGACTCACTTGGAACCTCCTCCTCCAGGAAGTCCTCCTAGATCCCTGCCTCACCCCTGGCCACTGGCAGCCCTTCCTGTCTTGTGGGT
Task1_train_27651
The gene SLC4A11 (solute carrier family 4 member 11) is located on Chromosome 20, where a mutation has occurred. What is the medical relevance of this mutation?
Pathogenic; not provided
ATCTGTCTAGGCCTCCCAAAGTGCTGGGATTACAGGCACGAGCCACTGTGCCCAGATGCTGGTAGCAGGTTTTATTCCACAAAGTTCAGGCATTAGTGTACTCTGCCATGATTTCAACCAGGTCAGCAGATCACCGCAACTACCATCGATCTATATTTTTGTTATAAACTCATGATTTCTTATAAACTCAAGATATTACTTTTGTCCTAAGCAACAAAAGTCTGTGTGATCACAGATAATGAAACCACAGTGGAGAAAAATGTTTCCCCAGCTACGTTTCCCCAGTGGTATTTGCACTGTCTGCTGGTTTGACTTTCAGAGAGGGTCCAAGCCCGTCAGGCACTCTCTCTCTCGCCCGGCCAAGGTGAAGCCCGTCCGTGAACCATGAACTCACGAACTCAGTGTCCAGCCCTCATCACAGCAACCTGCTCACCTAGGGGCAGTGTCTGCCCGTCTGTTGCTCAAAGCTCTAGTCCCGGGGCACTGTGCATGTTTGCTGTAGAAGAGGCCCGTGCCTGGCAGGGCATGGTGGCTCACGCCCATAATACCAACTTTTTTGGGAGGCTAAGGCAGGCAGATCACTTGAGGTCAAGAGTTCAAGACCAGCCTGGCCAACATGGTGAAACCCCATCTCTACTAAAAATACAAAATAATTAGCTGGCTGTAGTTTTTGGTGGTGGCGGGTGCCTGTAGTCACAGCTACTTGGGAGGCTGAGGCGGGAGAATCGCTTGAACCTGGGAGGCAGAGGTTGCAGTGAGCTGAGATCACACCTCAACATTCCAGCCTGGGTGACAGAGTGAGACTCTGTCTCAAAGATAAATAAATAAAACAAACAAATAAACAAATACAAAACCCCAAAAGAACTAGTCCATGCTCCTGAGGAGGAGCCCAGTGTCGGGCTGGGGGATCTGCCTCAAGGCACCAGGCTTTAACTCAGCTCTGGGCTATTGCTCCTTCTGTGTGGGCACCCTGCTGGGGGCCACTCCTTCCAACCCAGGGGCTGCCCTTCCTCTCACACCAGCACAGTTGCATTTGTGGAGGTTCCCGCCATGTCTGAGATCCCTGAGAACCCCATTTGCACACAGAAGGCCAGGGGCAGGAGCACAAGAAGCTAAGGGAAGCTGAAGCTGAAGGCGCTGCCAAGGCCTTGGGAGGGGTCCTGGCAATCATCTGTTGAGACTTGTTAAATCCTTTTCCTTAAAAGACTCCCGAAATTGTATCAGTTCCGGCTCCCACAAAAAGCATGGTGTCCCGGCCAGGGGGTGTGTGGCCCAGGAAGGAGCAGGGACCCTCAGCTAGCAAATCGCAAAGTCAACCAAGTCAAAGAAGGGCTGGCGGGCGGGCAGGCCAGAGAAGGCCGCGTGTTTGAATAGGGATAGTGGTCAAAAGCGTTTCCTTTCAGTCAAGGAAATACGAACTTTTCGGCAATCCCCGGGGACATGAGGACTTGCCGGGCCTAGCAACATGTTTCTGACACACCCACAGGGCCGAGGCGAAGGGGAGGGTGAGGACCAGGCCTTCAGAGGCCAGGACATGTGGGAGGGGACCCCAAGCAGAGGGCGGGTAACCCGGGGCCCTCCTTCTTCCCCAGGACACGGCACTACCCACTCACCATCTTGGGTGGGGCCAGCACCAGGATGACGAACCGAACCTCACAGGAATTCTCCCCCCAGTTCTGTGGGCGAACCAGGCGGCTGATGCACACGTGCCGCTTCTGTAGGGCCTTCATGGTACAGCTGGCAGGGGCGGGGAGGACACAGTGCACAGTTGCACCCCAGGGAGCTGGGGCTCCCCGACCCAGAACCCCCTCGACCTTGACCCCTGGCGACCTCTGCTAGGGAGGGAAAAGAAGAGCAAATGGGACGTTCCTTGGCAGTGCTCCAGCCCTCTTCTCCCAAGTTGGTTGGGCCGCCAGAGCCCCAGGACTCACAGGTGGGCTGGCCTCTGCAGGGCACAGGGGACATGGGACACCCAGTTCCACTGCGACAAGAAGGGGGGCCAAGTGGCCTGGCAACTCACATGATGCAGAGCCACGACTGCTGGTACCGCACCCCTGTCACTGTGGCGGTGACCCCTTGGATGGTATCTGACAGCAGGTGGACTGAGGAAAGAGTGAGGGGGAGGGTGGTGGGTCAACAGCCCCTCCCAACGCCCCCGCCCGGGCCGGGAGACCGGCCTCACCTTTACCCCGCATGGGTGCCCCGGCATCGGTGAAGAGCATGGCCATGAGCAGGTCCAGGTTGCAGTTGGGCTCATTGTTGTCAGGGTCCCTGGCGAAGCGGCGAAGCATGGTCCGCAGCACGTTATCCAGGGAGGTGGCCGTCTCGTTCAGGACGATGCTGGCCTGCGCCAGGAAGCCATCTAGGTCGCGGTGCGCACGGATCTCTTCCTTGAAGTTCTTTAACTTCAGGTACTGAGGGGACCCCAGGGACAGAACCACACGGGCCCATGTATGAGATGCTGTCACTGCCTGGTCCCTCCCTCCCAGCCAGCCGCAGCAGTCCAGCCCCCAGCCCCCAGCCCCCAGCCCTGGGCTGGTGCGAGCTCCCTGTTGAGCTGCTCCTGGAGGCATGGGAAGAGGGGAGCAGCGGGAGGATTCTCAGGGAAGCCATCACCTCAGCCCCCAGGTAGAGGCCCCAGGACCACCTGCAGGACAGGCCATTCACCTTTCGGGAGGTGTGCAGGAGCACACAGCCACCGGAAGTCGCTTCATTCTCTGCCGGAGAAAAGCGGGGAGGGCTCAGGGTGCCACCCTCTCCTCAGGTCTTTCTTAGTAAGGCGAGTCACACCTGCCCAGTCCCGTGCCTTCCCCCAGTCTGCCCCTGCTGCAGCCCCCATACCAGTGTTGGTGGCCTGCATCTCAAGGTTGACATTGACAAAAAAACGGATACTCTCGCCAGACACGATGGAGGAGTTGGCAGTGTCGAAGGCCTCATCCCCCAGGATCTCCTCTCGGGCTTCGAAGGTGTCATCTGTGTCACACTTGTAGTAGCCTAGAGACCCCCAAGAGCAAGAGGGCCTGGCTGTTAAAGTGCCACACACAGGAAGGAGGGGCTCCAAGCCCAGGGAGCAGGGACCCCTGGACTGTCCCACTCTCGGGCCGTGGTGGGAGAGGCCATCCCATAGGCGAGGAAGGCAGCTTCTAGTCCTGCCCCAGCCCCACACAGGACATGGCAGCTGCCACAAAGTGAGTCTCCAGCATTCCCTAGCCGCTGAGACCAGGACCCTGCGCAGCTTTGACCCTTCAGCGTGAGAAAAACATGTCCACTCCAGACACATTGGGGCAGGCACGGAGTGCAATAATGCAGATGAGACTGCCTGGCCCCTGCCCTCCCAAAGTAGGGAACACAGGGAAGGCAGAGAAGCTGCAGTATCCACGTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCACACACACACACACACACACACACACACACACACACACACACACGCTGCCTTGTGGGCACAGGGTCTTAGAGCTCCGCCTCCCCAGGAGGGCAGGTGGGGAGAAGCATCGAGGCTGAGAGACCCAGGACAGGTATCAGACAAGGTCTAGGGAGCAGGAAAACCAGGGAAACAGAGCCAGGGGCTGACAGGGGAGAGGACCCCAAGGCCTCATGTCAGCCCTGCCCCCATCGTGCTCCTCTTCATGTTCTGGGGGCCCTGGGTAAGGGCACATGGAGAGTGAGGGTGTGTAATGGCACCTGTGGGATGTGGGACCCCAGAGGTGAGAGCCTGCTCCCCTTGGTCCTCAATTCCTGCAGCTGGCCAGCAGCACACCCCTCTTCCTACAGGAAGATTTCCTGGTAACATGCAAATATTCCTCTGCCCTGAGCCCTGCAGTGGCTCCCTGCAGCCTACAGATCACAGCCTGAGCCAGCCCTGCTCCCCCTGCCCTGACCACTGGCTCCTCAGGCCATCCGGTCAGCACCCTAGGCATGCAAGGTCCTGTCCTCCAAGCTGAGGGCTTCCCTCCCTGGAGGGCCTTTTTCAAGACTCACTTGGAACCTCCTCCTCCAGGAAGTCCTCCTAGATCCCTGCCTCACCCCTGGCCACTGGCAGCCCTTCCTGTCTTGTGGGTCCCCTAAGGTTC
ATCTGTCTAGGCCTCCCAAAGTGCTGGGATTACAGGCACGAGCCACTGTGCCCAGATGCTGGTAGCAGGTTTTATTCCACAAAGTTCAGGCATTAGTGTACTCTGCCATGATTTCAACCAGGTCAGCAGATCACCGCAACTACCATCGATCTATATTTTTGTTATAAACTCATGATTTCTTATAAACTCAAGATATTACTTTTGTCCTAAGCAACAAAAGTCTGTGTGATCACAGATAATGAAACCACAGTGGAGAAAAATGTTTCCCCAGCTACGTTTCCCCAGTGGTATTTGCACTGTCTGCTGGTTTGACTTTCAGAGAGGGTCCAAGCCCGTCAGGCACTCTCTCTCTCGCCCGGCCAAGGTGAAGCCCGTCCGTGAACCATGAACTCACGAACTCAGTGTCCAGCCCTCATCACAGCAACCTGCTCACCTAGGGGCAGTGTCTGCCCGTCTGTTGCTCAAAGCTCTAGTCCCGGGGCACTGTGCATGTTTGCTGTAGAAGAGGCCCGTGCCTGGCAGGGCATGGTGGCTCACGCCCATAATACCAACTTTTTTGGGAGGCTAAGGCAGGCAGATCACTTGAGGTCAAGAGTTCAAGACCAGCCTGGCCAACATGGTGAAACCCCATCTCTACTAAAAATACAAAATAATTAGCTGGCTGTAGTTTTTGGTGGTGGCGGGTGCCTGTAGTCACAGCTACTTGGGAGGCTGAGGCGGGAGAATCGCTTGAACCTGGGAGGCAGAGGTTGCAGTGAGCTGAGATCACACCTCAACATTCCAGCCTGGGTGACAGAGTGAGACTCTGTCTCAAAGATAAATAAATAAAACAAACAAATAAACAAATACAAAACCCCAAAAGAACTAGTCCATGCTCCTGAGGAGGAGCCCAGTGTCGGGCTGGGGGATCTGCCTCAAGGCACCAGGCTTTAACTCAGCTCTGGGCTATTGCTCCTTCTGTGTGGGCACCCTGCTGGGGGCCACTCCTTCCAACCCAGGGGCTGCCCTTCCTCTCACACCAGCACAGTTGCATTTGTGGAGGTTCCCGCCATGTCTGAGATCCCTGAGAACCCCATTTGCACACAGAAGGCCAGGGGCAGGAGCACAAGAAGCTAAGGGAAGCTGAAGCTGAAGGCGCTGCCAAGGCCTTGGGAGGGGTCCTGGCAATCATCTGTTGAGACTTGTTAAATCCTTTTCCTTAAAAGACTCCCGAAATTGTATCAGTTCCGGCTCCCACAAAAAGCATGGTGTCCCGGCCAGGGGGTGTGTGGCCCAGGAAGGAGCAGGGACCCTCAGCTAGCAAATCGCAAAGTCAACCAAGTCAAAGAAGGGCTGGCGGGCGGGCAGGCCAGAGAAGGCCGCGTGTTTGAATAGGGATAGTGGTCAAAAGCGTTTCCTTTCAGTCAAGGAAATACGAACTTTTCGGCAATCCCCGGGGACATGAGGACTTGCCGGGCCTAGCAACATGTTTCTGACACACCCACAGGGCCGAGGCGAAGGGGAGGGTGAGGACCAGGCCTTCAGAGGCCAGGACATGTGGGAGGGGACCCCAAGCAGAGGGCGGGTAACCCGGGGCCCTCCTTCTTCCCCAGGACACGGCACTACCCACTCACCATCTTGGGTGGGGCCAGCACCAGGATGACGAACCGAACCTCACAGGAATTCTCCCCCCAGTTCTGTGGGCGAACCAGGCGGCTGATGCACACGTGCCGCTTCTGTAGGGCCTTCATGGTACAGCTGGCAGGGGCGGGGAGGACACAGTGCACAGTTGCACCCCAGGGAGCTGGGGCTCCCCGACCCAGAACCCCCTCGACCTTGACCCCTGGCGACCTCTGCTAGGGAGGGAAAAGAAGAGCAAATGGGACGTTCCTTGGCAGTGCTCCAGCCCTCTTCTCCCAAGTTGGTTGGGCCGCCAGAGCCCCAGGACTCACAGGTGGGCTGGCCTCTGCAGGGCACAGGGGACATGGGACACCCAGTTCCACTGCGACAAGAAGGGGGGCCAAGTGGCCTGGCAACTCACATGATGCAGAGCCACGACTGCTGGTACCACACCCCTGTCACTGTGGCGGTGACCCCTTGGATGGTATCTGACAGCAGGTGGACTGAGGAAAGAGTGAGGGGGAGGGTGGTGGGTCAACAGCCCCTCCCAACGCCCCCGCCCGGGCCGGGAGACCGGCCTCACCTTTACCCCGCATGGGTGCCCCGGCATCGGTGAAGAGCATGGCCATGAGCAGGTCCAGGTTGCAGTTGGGCTCATTGTTGTCAGGGTCCCTGGCGAAGCGGCGAAGCATGGTCCGCAGCACGTTATCCAGGGAGGTGGCCGTCTCGTTCAGGACGATGCTGGCCTGCGCCAGGAAGCCATCTAGGTCGCGGTGCGCACGGATCTCTTCCTTGAAGTTCTTTAACTTCAGGTACTGAGGGGACCCCAGGGACAGAACCACACGGGCCCATGTATGAGATGCTGTCACTGCCTGGTCCCTCCCTCCCAGCCAGCCGCAGCAGTCCAGCCCCCAGCCCCCAGCCCCCAGCCCTGGGCTGGTGCGAGCTCCCTGTTGAGCTGCTCCTGGAGGCATGGGAAGAGGGGAGCAGCGGGAGGATTCTCAGGGAAGCCATCACCTCAGCCCCCAGGTAGAGGCCCCAGGACCACCTGCAGGACAGGCCATTCACCTTTCGGGAGGTGTGCAGGAGCACACAGCCACCGGAAGTCGCTTCATTCTCTGCCGGAGAAAAGCGGGGAGGGCTCAGGGTGCCACCCTCTCCTCAGGTCTTTCTTAGTAAGGCGAGTCACACCTGCCCAGTCCCGTGCCTTCCCCCAGTCTGCCCCTGCTGCAGCCCCCATACCAGTGTTGGTGGCCTGCATCTCAAGGTTGACATTGACAAAAAAACGGATACTCTCGCCAGACACGATGGAGGAGTTGGCAGTGTCGAAGGCCTCATCCCCCAGGATCTCCTCTCGGGCTTCGAAGGTGTCATCTGTGTCACACTTGTAGTAGCCTAGAGACCCCCAAGAGCAAGAGGGCCTGGCTGTTAAAGTGCCACACACAGGAAGGAGGGGCTCCAAGCCCAGGGAGCAGGGACCCCTGGACTGTCCCACTCTCGGGCCGTGGTGGGAGAGGCCATCCCATAGGCGAGGAAGGCAGCTTCTAGTCCTGCCCCAGCCCCACACAGGACATGGCAGCTGCCACAAAGTGAGTCTCCAGCATTCCCTAGCCGCTGAGACCAGGACCCTGCGCAGCTTTGACCCTTCAGCGTGAGAAAAACATGTCCACTCCAGACACATTGGGGCAGGCACGGAGTGCAATAATGCAGATGAGACTGCCTGGCCCCTGCCCTCCCAAAGTAGGGAACACAGGGAAGGCAGAGAAGCTGCAGTATCCACGTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCACACACACACACACACACACACACACACACACACACACACACACGCTGCCTTGTGGGCACAGGGTCTTAGAGCTCCGCCTCCCCAGGAGGGCAGGTGGGGAGAAGCATCGAGGCTGAGAGACCCAGGACAGGTATCAGACAAGGTCTAGGGAGCAGGAAAACCAGGGAAACAGAGCCAGGGGCTGACAGGGGAGAGGACCCCAAGGCCTCATGTCAGCCCTGCCCCCATCGTGCTCCTCTTCATGTTCTGGGGGCCCTGGGTAAGGGCACATGGAGAGTGAGGGTGTGTAATGGCACCTGTGGGATGTGGGACCCCAGAGGTGAGAGCCTGCTCCCCTTGGTCCTCAATTCCTGCAGCTGGCCAGCAGCACACCCCTCTTCCTACAGGAAGATTTCCTGGTAACATGCAAATATTCCTCTGCCCTGAGCCCTGCAGTGGCTCCCTGCAGCCTACAGATCACAGCCTGAGCCAGCCCTGCTCCCCCTGCCCTGACCACTGGCTCCTCAGGCCATCCGGTCAGCACCCTAGGCATGCAAGGTCCTGTCCTCCAAGCTGAGGGCTTCCCTCCCTGGAGGGCCTTTTTCAAGACTCACTTGGAACCTCCTCCTCCAGGAAGTCCTCCTAGATCCCTGCCTCACCCCTGGCCACTGGCAGCCCTTCCTGTCTTGTGGGTCCCCTAAGGTTC
Task1_train_27652
This sequence variant lies in LOC130065345, PANK2 (ATAC-STARR-seq lymphoblastoid silent region 12635| pantothenate kinase 2) on Chromosome 20. Is it clinically significant, and what condition might it cause if any?
Pathogenic; not specified
CAGGTGCCCACCACCACGCCCAACTAATTTTTGTGTTTGTTTTTTTTAGTAGAGACGGGGTTTCCCTGTGTTGGCCAGGCTGGTCTCGGACTCCTGACCTTGTGATTCGCACGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGAGTTGAGCCACTGCGCCCGGCCGCTTTCTTTTGGTTATCATAAGGCGGGCAGTAGCTGAACTTCTCAGGAGTCCAAGCTCTGTCATTCTTTAGGCTTTGTGCTTCTGGATAAGTTACCTCATCATCCAAATGTTACTGCAAGGACTAAGTGAGATGTAGAGGCAGTGGGCAAATTGTGTAAAAATACTACTGTTTCAAGTGTTTTGATGTTGGAGTTCATCTTGCCAGCCAAGGGATGATGATACTTTGATTCTTCAGGATGATCAGAGCTCAGACTTGGACGGAAGCTCCCTCAGGTCAAGGAGGACCACATTTTTTGGGGGGTGGAGAGAGGAGGCAGAAAGAGAGGCAATGTCAGGCACTGAGATTTAGAAGAGTAGCTATAGCTGTTTTTGGTTCTTGTAGATCCGTCTGTGTTGGCTTCCTACAGGAGCTAGAATTTTCAGAGCTAGTCCTACAGTGAGGGGAGCTAACGTGGAGTGGGCGTGAGAATTCTATTCAGCAAGCACAAGCGAAGCTCAACCTTTTTGTTCAGCCTGCTACAACCAATCATTATGGGAGAGGGGAATAAGGATCACTGCCCAAGGGGCATTAGGATCACTGCCCAGTGGGCATTACAGTCTCCCCAGGGAGGCACTCTTTTTTATTTTTTATTTTTTTTGAGACGGAGTTTCGCTCTTGTTGCACAATGTTGGGTCACTGCAGCCTCCGCCACCCGGGTTCAAGCAATTTTCCTGCCTCAGCTTCCCAAGTAGCTGGGATTATAGGCATGGGCCACCACGCCCCGCTAATACGGAGGCACTTTTAATTAGCCCACAGTCCAGTGAAATTTGACGGAGTGAGGAAGTGACCTCAGAGTACAGAACGGGATGGGATCCTTCCGGGCTTGGGCAGCCTTTGGTAGTGGGGATGCTTGGAAGGGTCAGGGTCTCAGTCCTGGAGGTGACCAATTTTTCTCTCCAAAAGAGAAAGGAAGATGATTAAAAAAAAAATCCATGCTCCAAAGCGGCAGCCAAATCCTTCTATGGCCCCCAATGCATCACCCAGAAAGGGGCTCCAGACTCTCCTGCAAAAGGCCAACTCTACTTCCCGGCTCCCACTTCCCCTCCTTCGCCACAGGAGGGTGGCGAAGGATTTATAACCCACCTCTTTCTTTCAGTTGCCATGGAGACAAGCCCCAGTCCTTTCATTCCTTCTGGTACCTCTCTCTCCAACGCAGGCGGAAAGGAGGCGGCTTAGCCCAAACATGCTGGGGGAGGGGCTGGCGGCCTCGACGGCAGCTGCGGAACTAGGCCGAGGGACAAAGGCTAAGGTCAGCCGCGGTTCAAGCCCTTTCGTCTGCCGACGACCAGCGGCCAGACGCTGCGGGAGCACTGCTGGGCTGGAGGAGGGCTCGAGCTGCGAGGACGGCACGGAGCAGCGGGGTGGGACTCGGGGTCGCCCCAGGAGAGTTCCGCGGCCCGGGGGGGCAGAGGCATGCACAAGTGGGGGGCGGAAGGAGGGGGTGGATGAGGAGGCTCGGGCCCTTCCACCCACGCGTCCATTGGGCGGCGCCGCCATCACTCTCTTCTGGGCTACACCGCCTTCTCTTCCTCCGCGGAACCCGGATCCCCTCCTCCACCACCCTCTCCCCGCCCCGTCACGATAGCCTCTCATTGGACGGAGGCACGGTCAATCCTCCTCGAGTTAGGGAGCCGACTGGACGCGAGGCCTTTGGGCCGTCCCCAGCCTCGTCGGATTGGCTTCCTGCGCGTTGGCGCAACGGAAGAGGCGGCCGGCCGAGGGCGCGCCTCTGCTCTGGCTGGACTGCCGCGGAGGAGGCGAGAAGGAATCCGACGCTGGGGGGCTTGCTCGGGCGGCAGCGACTGCTGCTGCGGATGGGAGGGGGCCGGCTCGGCGCGCCCATGGAGCGCCACGGCAGGGCTTCCGCCACCTCCGTCTCGTCGGCTGGGGAGCAGGCGGCCGGGGACCCCGAAGGGCGGCGGCAGGAGCCACTGCGGCGCCGGGCGAGCAGCGCGTCGGTGCCCGCGGTCGGGGCCTCGGCTGAGGGCACGAGGCGGGATCGACTGGGCTCTTACAGCGGCCCCACCTCGGTCTCCCGCCAGCGCGTCGAAAGCCTGAGGAAAAAGCGGCCGCGTAAGTGTTCCGTGGGGCGCCCTCCCGGCCCGCCCTGCCCCCCCTTCCGGCCCACCCTGTCCCCTTCCGGCCCCGCCGCCGTTTTTCCCGCGCGCGGACACTGTCCCCGCACGGTGGTCCCTCGTTGGTGCGTGGCCTGACATCCGGCTGGAGGCCTCGGGTGCTCCGAAAGCGGTACCTTCGGGGGCCCCCCCGCACCCATTGGTATGCACTTCCCGCTTGTTGGAGTGGAGGGCTTTTCCCCAGGACCTGTCCTCCCTTTTCTTAGCTCCTTGGGCATTCTCTTCCTGAGGGTCACATGATTTTATCCTCGAGAAGGCTTCTTTTGACTCATTTCCACCTCCTTTCCTCCCAAATCCTTTGAATCCCCAATGTTTGTTTTCCGTGGGTTTCCAAAGAGCTGCTCTCTAATACTTTAAGTCCCTTTTATTCGTCAATTTCGGGCTTACTGGAAAATGGTGAACTGCCCCTTGAGTTGCACCAGGCCTGAAACTGTATTCCGTGCACCTCTAAGGTGGCTGCCCTTCTTCTCGTGAGAATCCAGGTCATCTCTCACCCACATATCCCCTCCGTTTTCCTTCTGTCTATTTGCAGGTACTCACGATTCAGAACTGTGGCATTCTGGGCATTAAGGCTCTTTGTTTTGAGGGGAAACAACATCTTTCTGAATTTTGCCTTGGGAGTTGCATACGCTCCTCCCAGAGAATCCGTTTCCCCATTTTATTAGGTTTCTTTTTCTGTGTTGTGTATTTTCTCCCCTTTACAAGTCTTCAATTCAGGACCGCTGCCTGGCAGCCATTGCTGCTGTTGAAAGTATCAATTGTCCTGATACTGTAATATGAGCTTTACAGTGTGATGCCATTTTACATATGGTTGGACTTTTTGGTGGGTGTTGCCAGATTCCTATTTCAGGAAATTGACTTGTTTAAATGCAGATTGTGAGAGGGAGGGAAAATGGCAAGATGTGAGATTTTTATTGAATAGTCTTCTACCTTAGCCCAGTCACCCAACTGCTTTTTTGAATCTTCTCTGATATGGATGATTAAATGTAGTTCTATTTTGCTGTGAAAAGTTTGGGAGTTTTCAGTTCTTTTGTCTTTTTCCATCTTCTTGCAACAGATTTGGAAAACAGATTCTTAACCTGTGCCATTTTCAGAGTCAGTCACCTAGTTTTGTTTTATTTGAGAAGCACCTGAGTTTGAAGCAATGCAAAATATGAGATCCTTCATGGTTTTGTATTACATCGTTGGAAATGGATGTAAATTCCAAAGATTCAGCAAATAAGAGTATAGCCATTAGCCACAAGGGTTTTTTTGGTTTGTTTTTTGTTTTTTACTTTGAGACAGCGTCTTGTTCTGTTGCCCAGGCTGAAGTGCAGTGGCATGATCATGGCTCATTGTGGCCTTAACCTCCTGGGCTCAAGCCATCCTCCTGCTTCAACCTCCTGCATTGCTGGGACTAAAGGCACGTGCCACTATGCCAGGCTAATTTTTCAATTTTTATTTTTTTAAATAGAGATGGGATCTCTTATGTTGCCCAGGCTGGTCTTGAATTCCTCCTGGTCTCAAGCGATCTTCCCACTTCGGCCTCCCAAAGTGCTGGGATATAGACGGGAGCCATTGTGCCCGACCTGGCAGTCGTCTACTAAGAGCTTTGGTAACTCATTAGCCTCGTGGCTCTGAGGTAGGTGGTAGTATTCCATTTTACAGATGAGAAAACTGGGACACGTTTGCCCGGTCAAATGGCTAGTGCGTTGTGAAATAGAAATGTAAACTCAGAATTGCTAGCTTCATAGCTTTTGCGGTGGACCACTGTG
CAGGTGCCCACCACCACGCCCAACTAATTTTTGTGTTTGTTTTTTTTAGTAGAGACGGGGTTTCCCTGTGTTGGCCAGGCTGGTCTCGGACTCCTGACCTTGTGATTCGCACGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGAGTTGAGCCACTGCGCCCGGCCGCTTTCTTTTGGTTATCATAAGGCGGGCAGTAGCTGAACTTCTCAGGAGTCCAAGCTCTGTCATTCTTTAGGCTTTGTGCTTCTGGATAAGTTACCTCATCATCCAAATGTTACTGCAAGGACTAAGTGAGATGTAGAGGCAGTGGGCAAATTGTGTAAAAATACTACTGTTTCAAGTGTTTTGATGTTGGAGTTCATCTTGCCAGCCAAGGGATGATGATACTTTGATTCTTCAGGATGATCAGAGCTCAGACTTGGACGGAAGCTCCCTCAGGTCAAGGAGGACCACATTTTTTGGGGGGTGGAGAGAGGAGGCAGAAAGAGAGGCAATGTCAGGCACTGAGATTTAGAAGAGTAGCTATAGCTGTTTTTGGTTCTTGTAGATCCGTCTGTGTTGGCTTCCTACAGGAGCTAGAATTTTCAGAGCTAGTCCTACAGTGAGGGGAGCTAACGTGGAGTGGGCGTGAGAATTCTATTCAGCAAGCACAAGCGAAGCTCAACCTTTTTGTTCAGCCTGCTACAACCAATCATTATGGGAGAGGGGAATAAGGATCACTGCCCAAGGGGCATTAGGATCACTGCCCAGTGGGCATTACAGTCTCCCCAGGGAGGCACTCTTTTTTATTTTTTATTTTTTTTGAGACGGAGTTTCGCTCTTGTTGCACAATGTTGGGTCACTGCAGCCTCCGCCACCCGGGTTCAAGCAATTTTCCTGCCTCAGCTTCCCAAGTAGCTGGGATTATAGGCATGGGCCACCACGCCCCGCTAATACGGAGGCACTTTTAATTAGCCCACAGTCCAGTGAAATTTGACGGAGTGAGGAAGTGACCTCAGAGTACAGAACGGGATGGGATCCTTCCGGGCTTGGGCAGCCTTTGGTAGTGGGGATGCTTGGAAGGGTCAGGGTCTCAGTCCTGGAGGTGACCAATTTTTCTCTCCAAAAGAGAAAGGAAGATGATTAAAAAAAAAATCCATGCTCCAAAGCGGCAGCCAAATCCTTCTATGGCCCCCAATGCATCACCCAGAAAGGGGCTCCAGACTCTCCTGCAAAAGGCCAACTCTACTTCCCGGCTCCCACTTCCCCTCCTTCGCCACAGGAGGGTGGCGAAGGATTTATAACCCACCTCTTTCTTTCAGTTGCCATGGAGACAAGCCCCAGTCCTTTCATTCCTTCTGGTACCTCTCTCTCCAACGCAGGCGGAAAGGAGGCGGCTTAGCCCAAACATGCTGGGGGAGGGGCTGGCGGCCTCGACGGCAGCTGCGGAACTAGGCCGAGGGACAAAGGCTAAGGTCAGCCGCGGTTCAAGCCCTTTCGTCTGCCGACGACCAGCGGCCAGACGCTGCGGGAGCACTGCTGGGCTGGAGGAGGGCTCGAGCTGCGAGGACGGCACGGAGCAGCGGGGTGGGACTCGGGGTCGCCCCAGGAGAGTTCCGCGGCCCGGGGGGGCAGAGGCATGCACAAGTGGGGGGCGGAAGGAGGGGGTGGATGAGGAGGCTCGGGCCCTTCCACCCACGCGTCCATTGGGCGGCGCCGCCATCACTCTCTTCTGGGCTACACCGCCTTCTCTTCCTCCGCGGAACCCGGATCCCCTCCTCCACCACCCTCTCCCCGCCCCGTCACGATAGCCTCTCATTGGACGGAGGCACGGTCAATCCTCCTCGAGTTAGGGAGCCGACTGGACGCGAGGCCTTTGGGCCGTCCCCAGCCTCGTCGGATTGGCTTCCTGCGCGTTGGCGCAACGGAAGAGGCGGCCGGCCGAGGGCGCGCCTCTGCTCTGGCTGGACTGCCGCGGAGGAGGCGAGAAGGAATCCGACGCTGGGGGGCTTGCTCGGGCGGCAGCGACTGCTGCTGCGGATGGGAGGGGGCCGGCTCGGCGCGCCCGTGGAGCGCCACGGCAGGGCTTCCGCCACCTCCGTCTCGTCGGCTGGGGAGCAGGCGGCCGGGGACCCCGAAGGGCGGCGGCAGGAGCCACTGCGGCGCCGGGCGAGCAGCGCGTCGGTGCCCGCGGTCGGGGCCTCGGCTGAGGGCACGAGGCGGGATCGACTGGGCTCTTACAGCGGCCCCACCTCGGTCTCCCGCCAGCGCGTCGAAAGCCTGAGGAAAAAGCGGCCGCGTAAGTGTTCCGTGGGGCGCCCTCCCGGCCCGCCCTGCCCCCCCTTCCGGCCCACCCTGTCCCCTTCCGGCCCCGCCGCCGTTTTTCCCGCGCGCGGACACTGTCCCCGCACGGTGGTCCCTCGTTGGTGCGTGGCCTGACATCCGGCTGGAGGCCTCGGGTGCTCCGAAAGCGGTACCTTCGGGGGCCCCCCCGCACCCATTGGTATGCACTTCCCGCTTGTTGGAGTGGAGGGCTTTTCCCCAGGACCTGTCCTCCCTTTTCTTAGCTCCTTGGGCATTCTCTTCCTGAGGGTCACATGATTTTATCCTCGAGAAGGCTTCTTTTGACTCATTTCCACCTCCTTTCCTCCCAAATCCTTTGAATCCCCAATGTTTGTTTTCCGTGGGTTTCCAAAGAGCTGCTCTCTAATACTTTAAGTCCCTTTTATTCGTCAATTTCGGGCTTACTGGAAAATGGTGAACTGCCCCTTGAGTTGCACCAGGCCTGAAACTGTATTCCGTGCACCTCTAAGGTGGCTGCCCTTCTTCTCGTGAGAATCCAGGTCATCTCTCACCCACATATCCCCTCCGTTTTCCTTCTGTCTATTTGCAGGTACTCACGATTCAGAACTGTGGCATTCTGGGCATTAAGGCTCTTTGTTTTGAGGGGAAACAACATCTTTCTGAATTTTGCCTTGGGAGTTGCATACGCTCCTCCCAGAGAATCCGTTTCCCCATTTTATTAGGTTTCTTTTTCTGTGTTGTGTATTTTCTCCCCTTTACAAGTCTTCAATTCAGGACCGCTGCCTGGCAGCCATTGCTGCTGTTGAAAGTATCAATTGTCCTGATACTGTAATATGAGCTTTACAGTGTGATGCCATTTTACATATGGTTGGACTTTTTGGTGGGTGTTGCCAGATTCCTATTTCAGGAAATTGACTTGTTTAAATGCAGATTGTGAGAGGGAGGGAAAATGGCAAGATGTGAGATTTTTATTGAATAGTCTTCTACCTTAGCCCAGTCACCCAACTGCTTTTTTGAATCTTCTCTGATATGGATGATTAAATGTAGTTCTATTTTGCTGTGAAAAGTTTGGGAGTTTTCAGTTCTTTTGTCTTTTTCCATCTTCTTGCAACAGATTTGGAAAACAGATTCTTAACCTGTGCCATTTTCAGAGTCAGTCACCTAGTTTTGTTTTATTTGAGAAGCACCTGAGTTTGAAGCAATGCAAAATATGAGATCCTTCATGGTTTTGTATTACATCGTTGGAAATGGATGTAAATTCCAAAGATTCAGCAAATAAGAGTATAGCCATTAGCCACAAGGGTTTTTTTGGTTTGTTTTTTGTTTTTTACTTTGAGACAGCGTCTTGTTCTGTTGCCCAGGCTGAAGTGCAGTGGCATGATCATGGCTCATTGTGGCCTTAACCTCCTGGGCTCAAGCCATCCTCCTGCTTCAACCTCCTGCATTGCTGGGACTAAAGGCACGTGCCACTATGCCAGGCTAATTTTTCAATTTTTATTTTTTTAAATAGAGATGGGATCTCTTATGTTGCCCAGGCTGGTCTTGAATTCCTCCTGGTCTCAAGCGATCTTCCCACTTCGGCCTCCCAAAGTGCTGGGATATAGACGGGAGCCATTGTGCCCGACCTGGCAGTCGTCTACTAAGAGCTTTGGTAACTCATTAGCCTCGTGGCTCTGAGGTAGGTGGTAGTATTCCATTTTACAGATGAGAAAACTGGGACACGTTTGCCCGGTCAAATGGCTAGTGCGTTGTGAAATAGAAATGTAAACTCAGAATTGCTAGCTTCATAGCTTTTGCGGTGGACCACTGTG
Task1_train_27653
Gene LOC130065345, PANK2 (ATAC-STARR-seq lymphoblastoid silent region 12635| pantothenate kinase 2), found on Chromosome 20, is impacted by this variant. What is the biological outcome — benign or pathogenic?
Pathogenic; Pigmentary pallidal degeneration
CAGGTGCCCACCACCACGCCCAACTAATTTTTGTGTTTGTTTTTTTTAGTAGAGACGGGGTTTCCCTGTGTTGGCCAGGCTGGTCTCGGACTCCTGACCTTGTGATTCGCACGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGAGTTGAGCCACTGCGCCCGGCCGCTTTCTTTTGGTTATCATAAGGCGGGCAGTAGCTGAACTTCTCAGGAGTCCAAGCTCTGTCATTCTTTAGGCTTTGTGCTTCTGGATAAGTTACCTCATCATCCAAATGTTACTGCAAGGACTAAGTGAGATGTAGAGGCAGTGGGCAAATTGTGTAAAAATACTACTGTTTCAAGTGTTTTGATGTTGGAGTTCATCTTGCCAGCCAAGGGATGATGATACTTTGATTCTTCAGGATGATCAGAGCTCAGACTTGGACGGAAGCTCCCTCAGGTCAAGGAGGACCACATTTTTTGGGGGGTGGAGAGAGGAGGCAGAAAGAGAGGCAATGTCAGGCACTGAGATTTAGAAGAGTAGCTATAGCTGTTTTTGGTTCTTGTAGATCCGTCTGTGTTGGCTTCCTACAGGAGCTAGAATTTTCAGAGCTAGTCCTACAGTGAGGGGAGCTAACGTGGAGTGGGCGTGAGAATTCTATTCAGCAAGCACAAGCGAAGCTCAACCTTTTTGTTCAGCCTGCTACAACCAATCATTATGGGAGAGGGGAATAAGGATCACTGCCCAAGGGGCATTAGGATCACTGCCCAGTGGGCATTACAGTCTCCCCAGGGAGGCACTCTTTTTTATTTTTTATTTTTTTTGAGACGGAGTTTCGCTCTTGTTGCACAATGTTGGGTCACTGCAGCCTCCGCCACCCGGGTTCAAGCAATTTTCCTGCCTCAGCTTCCCAAGTAGCTGGGATTATAGGCATGGGCCACCACGCCCCGCTAATACGGAGGCACTTTTAATTAGCCCACAGTCCAGTGAAATTTGACGGAGTGAGGAAGTGACCTCAGAGTACAGAACGGGATGGGATCCTTCCGGGCTTGGGCAGCCTTTGGTAGTGGGGATGCTTGGAAGGGTCAGGGTCTCAGTCCTGGAGGTGACCAATTTTTCTCTCCAAAAGAGAAAGGAAGATGATTAAAAAAAAAATCCATGCTCCAAAGCGGCAGCCAAATCCTTCTATGGCCCCCAATGCATCACCCAGAAAGGGGCTCCAGACTCTCCTGCAAAAGGCCAACTCTACTTCCCGGCTCCCACTTCCCCTCCTTCGCCACAGGAGGGTGGCGAAGGATTTATAACCCACCTCTTTCTTTCAGTTGCCATGGAGACAAGCCCCAGTCCTTTCATTCCTTCTGGTACCTCTCTCTCCAACGCAGGCGGAAAGGAGGCGGCTTAGCCCAAACATGCTGGGGGAGGGGCTGGCGGCCTCGACGGCAGCTGCGGAACTAGGCCGAGGGACAAAGGCTAAGGTCAGCCGCGGTTCAAGCCCTTTCGTCTGCCGACGACCAGCGGCCAGACGCTGCGGGAGCACTGCTGGGCTGGAGGAGGGCTCGAGCTGCGAGGACGGCACGGAGCAGCGGGGTGGGACTCGGGGTCGCCCCAGGAGAGTTCCGCGGCCCGGGGGGGCAGAGGCATGCACAAGTGGGGGGCGGAAGGAGGGGGTGGATGAGGAGGCTCGGGCCCTTCCACCCACGCGTCCATTGGGCGGCGCCGCCATCACTCTCTTCTGGGCTACACCGCCTTCTCTTCCTCCGCGGAACCCGGATCCCCTCCTCCACCACCCTCTCCCCGCCCCGTCACGATAGCCTCTCATTGGACGGAGGCACGGTCAATCCTCCTCGAGTTAGGGAGCCGACTGGACGCGAGGCCTTTGGGCCGTCCCCAGCCTCGTCGGATTGGCTTCCTGCGCGTTGGCGCAACGGAAGAGGCGGCCGGCCGAGGGCGCGCCTCTGCTCTGGCTGGACTGCCGCGGAGGAGGCGAGAAGGAATCCGACGCTGGGGGGCTTGCTCGGGCGGCAGCGACTGCTGCTGCGGATGGGAGGGGGCCGGCTCGGCGCGCCCATGGAGCGCCACGGCAGGGCTTCCGCCACCTCCGTCTCGTCGGCTGGGGAGCAGGCGGCCGGGGACCCCGAAGGGCGGCGGCAGGAGCCACTGCGGCGCCGGGCGAGCAGCGCGTCGGTGCCCGCGGTCGGGGCCTCGGCTGAGGGCACGAGGCGGGATCGACTGGGCTCTTACAGCGGCCCCACCTCGGTCTCCCGCCAGCGCGTCGAAAGCCTGAGGAAAAAGCGGCCGCGTAAGTGTTCCGTGGGGCGCCCTCCCGGCCCGCCCTGCCCCCCCTTCCGGCCCACCCTGTCCCCTTCCGGCCCCGCCGCCGTTTTTCCCGCGCGCGGACACTGTCCCCGCACGGTGGTCCCTCGTTGGTGCGTGGCCTGACATCCGGCTGGAGGCCTCGGGTGCTCCGAAAGCGGTACCTTCGGGGGCCCCCCCGCACCCATTGGTATGCACTTCCCGCTTGTTGGAGTGGAGGGCTTTTCCCCAGGACCTGTCCTCCCTTTTCTTAGCTCCTTGGGCATTCTCTTCCTGAGGGTCACATGATTTTATCCTCGAGAAGGCTTCTTTTGACTCATTTCCACCTCCTTTCCTCCCAAATCCTTTGAATCCCCAATGTTTGTTTTCCGTGGGTTTCCAAAGAGCTGCTCTCTAATACTTTAAGTCCCTTTTATTCGTCAATTTCGGGCTTACTGGAAAATGGTGAACTGCCCCTTGAGTTGCACCAGGCCTGAAACTGTATTCCGTGCACCTCTAAGGTGGCTGCCCTTCTTCTCGTGAGAATCCAGGTCATCTCTCACCCACATATCCCCTCCGTTTTCCTTCTGTCTATTTGCAGGTACTCACGATTCAGAACTGTGGCATTCTGGGCATTAAGGCTCTTTGTTTTGAGGGGAAACAACATCTTTCTGAATTTTGCCTTGGGAGTTGCATACGCTCCTCCCAGAGAATCCGTTTCCCCATTTTATTAGGTTTCTTTTTCTGTGTTGTGTATTTTCTCCCCTTTACAAGTCTTCAATTCAGGACCGCTGCCTGGCAGCCATTGCTGCTGTTGAAAGTATCAATTGTCCTGATACTGTAATATGAGCTTTACAGTGTGATGCCATTTTACATATGGTTGGACTTTTTGGTGGGTGTTGCCAGATTCCTATTTCAGGAAATTGACTTGTTTAAATGCAGATTGTGAGAGGGAGGGAAAATGGCAAGATGTGAGATTTTTATTGAATAGTCTTCTACCTTAGCCCAGTCACCCAACTGCTTTTTTGAATCTTCTCTGATATGGATGATTAAATGTAGTTCTATTTTGCTGTGAAAAGTTTGGGAGTTTTCAGTTCTTTTGTCTTTTTCCATCTTCTTGCAACAGATTTGGAAAACAGATTCTTAACCTGTGCCATTTTCAGAGTCAGTCACCTAGTTTTGTTTTATTTGAGAAGCACCTGAGTTTGAAGCAATGCAAAATATGAGATCCTTCATGGTTTTGTATTACATCGTTGGAAATGGATGTAAATTCCAAAGATTCAGCAAATAAGAGTATAGCCATTAGCCACAAGGGTTTTTTTGGTTTGTTTTTTGTTTTTTACTTTGAGACAGCGTCTTGTTCTGTTGCCCAGGCTGAAGTGCAGTGGCATGATCATGGCTCATTGTGGCCTTAACCTCCTGGGCTCAAGCCATCCTCCTGCTTCAACCTCCTGCATTGCTGGGACTAAAGGCACGTGCCACTATGCCAGGCTAATTTTTCAATTTTTATTTTTTTAAATAGAGATGGGATCTCTTATGTTGCCCAGGCTGGTCTTGAATTCCTCCTGGTCTCAAGCGATCTTCCCACTTCGGCCTCCCAAAGTGCTGGGATATAGACGGGAGCCATTGTGCCCGACCTGGCAGTCGTCTACTAAGAGCTTTGGTAACTCATTAGCCTCGTGGCTCTGAGGTAGGTGGTAGTATTCCATTTTACAGATGAGAAAACTGGGACACGTTTGCCCGGTCAAATGGCTAGTGCGTTGTGAAATAGAAATGTAAACTCAGAATTGCTAGCTTCATAGCTTTTGCGGTGGACCACTGTG
CAGGTGCCCACCACCACGCCCAACTAATTTTTGTGTTTGTTTTTTTTAGTAGAGACGGGGTTTCCCTGTGTTGGCCAGGCTGGTCTCGGACTCCTGACCTTGTGATTCGCACGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGAGTTGAGCCACTGCGCCCGGCCGCTTTCTTTTGGTTATCATAAGGCGGGCAGTAGCTGAACTTCTCAGGAGTCCAAGCTCTGTCATTCTTTAGGCTTTGTGCTTCTGGATAAGTTACCTCATCATCCAAATGTTACTGCAAGGACTAAGTGAGATGTAGAGGCAGTGGGCAAATTGTGTAAAAATACTACTGTTTCAAGTGTTTTGATGTTGGAGTTCATCTTGCCAGCCAAGGGATGATGATACTTTGATTCTTCAGGATGATCAGAGCTCAGACTTGGACGGAAGCTCCCTCAGGTCAAGGAGGACCACATTTTTTGGGGGGTGGAGAGAGGAGGCAGAAAGAGAGGCAATGTCAGGCACTGAGATTTAGAAGAGTAGCTATAGCTGTTTTTGGTTCTTGTAGATCCGTCTGTGTTGGCTTCCTACAGGAGCTAGAATTTTCAGAGCTAGTCCTACAGTGAGGGGAGCTAACGTGGAGTGGGCGTGAGAATTCTATTCAGCAAGCACAAGCGAAGCTCAACCTTTTTGTTCAGCCTGCTACAACCAATCATTATGGGAGAGGGGAATAAGGATCACTGCCCAAGGGGCATTAGGATCACTGCCCAGTGGGCATTACAGTCTCCCCAGGGAGGCACTCTTTTTTATTTTTTATTTTTTTTGAGACGGAGTTTCGCTCTTGTTGCACAATGTTGGGTCACTGCAGCCTCCGCCACCCGGGTTCAAGCAATTTTCCTGCCTCAGCTTCCCAAGTAGCTGGGATTATAGGCATGGGCCACCACGCCCCGCTAATACGGAGGCACTTTTAATTAGCCCACAGTCCAGTGAAATTTGACGGAGTGAGGAAGTGACCTCAGAGTACAGAACGGGATGGGATCCTTCCGGGCTTGGGCAGCCTTTGGTAGTGGGGATGCTTGGAAGGGTCAGGGTCTCAGTCCTGGAGGTGACCAATTTTTCTCTCCAAAAGAGAAAGGAAGATGATTAAAAAAAAAATCCATGCTCCAAAGCGGCAGCCAAATCCTTCTATGGCCCCCAATGCATCACCCAGAAAGGGGCTCCAGACTCTCCTGCAAAAGGCCAACTCTACTTCCCGGCTCCCACTTCCCCTCCTTCGCCACAGGAGGGTGGCGAAGGATTTATAACCCACCTCTTTCTTTCAGTTGCCATGGAGACAAGCCCCAGTCCTTTCATTCCTTCTGGTACCTCTCTCTCCAACGCAGGCGGAAAGGAGGCGGCTTAGCCCAAACATGCTGGGGGAGGGGCTGGCGGCCTCGACGGCAGCTGCGGAACTAGGCCGAGGGACAAAGGCTAAGGTCAGCCGCGGTTCAAGCCCTTTCGTCTGCCGACGACCAGCGGCCAGACGCTGCGGGAGCACTGCTGGGCTGGAGGAGGGCTCGAGCTGCGAGGACGGCACGGAGCAGCGGGGTGGGACTCGGGGTCGCCCCAGGAGAGTTCCGCGGCCCGGGGGGGCAGAGGCATGCACAAGTGGGGGGCGGAAGGAGGGGGTGGATGAGGAGGCTCGGGCCCTTCCACCCACGCGTCCATTGGGCGGCGCCGCCATCACTCTCTTCTGGGCTACACCGCCTTCTCTTCCTCCGCGGAACCCGGATCCCCTCCTCCACCACCCTCTCCCCGCCCCGTCACGATAGCCTCTCATTGGACGGAGGCACGGTCAATCCTCCTCGAGTTAGGGAGCCGACTGGACGCGAGGCCTTTGGGCCGTCCCCAGCCTCGTCGGATTGGCTTCCTGCGCGTTGGCGCAACGGAAGAGGCGGCCGGCCGAGGGCGCGCCTCTGCTCTGGCTGGACTGCCGCGGAGGAGGCGAGAAGGAATCCGACGCTGGGGGGCTTGCTCGGGCGGCAGCGACTGCTGCTGCGGATGGGAGGGGGCCGGCTCGGCGCGCCCGTGGAGCGCCACGGCAGGGCTTCCGCCACCTCCGTCTCGTCGGCTGGGGAGCAGGCGGCCGGGGACCCCGAAGGGCGGCGGCAGGAGCCACTGCGGCGCCGGGCGAGCAGCGCGTCGGTGCCCGCGGTCGGGGCCTCGGCTGAGGGCACGAGGCGGGATCGACTGGGCTCTTACAGCGGCCCCACCTCGGTCTCCCGCCAGCGCGTCGAAAGCCTGAGGAAAAAGCGGCCGCGTAAGTGTTCCGTGGGGCGCCCTCCCGGCCCGCCCTGCCCCCCCTTCCGGCCCACCCTGTCCCCTTCCGGCCCCGCCGCCGTTTTTCCCGCGCGCGGACACTGTCCCCGCACGGTGGTCCCTCGTTGGTGCGTGGCCTGACATCCGGCTGGAGGCCTCGGGTGCTCCGAAAGCGGTACCTTCGGGGGCCCCCCCGCACCCATTGGTATGCACTTCCCGCTTGTTGGAGTGGAGGGCTTTTCCCCAGGACCTGTCCTCCCTTTTCTTAGCTCCTTGGGCATTCTCTTCCTGAGGGTCACATGATTTTATCCTCGAGAAGGCTTCTTTTGACTCATTTCCACCTCCTTTCCTCCCAAATCCTTTGAATCCCCAATGTTTGTTTTCCGTGGGTTTCCAAAGAGCTGCTCTCTAATACTTTAAGTCCCTTTTATTCGTCAATTTCGGGCTTACTGGAAAATGGTGAACTGCCCCTTGAGTTGCACCAGGCCTGAAACTGTATTCCGTGCACCTCTAAGGTGGCTGCCCTTCTTCTCGTGAGAATCCAGGTCATCTCTCACCCACATATCCCCTCCGTTTTCCTTCTGTCTATTTGCAGGTACTCACGATTCAGAACTGTGGCATTCTGGGCATTAAGGCTCTTTGTTTTGAGGGGAAACAACATCTTTCTGAATTTTGCCTTGGGAGTTGCATACGCTCCTCCCAGAGAATCCGTTTCCCCATTTTATTAGGTTTCTTTTTCTGTGTTGTGTATTTTCTCCCCTTTACAAGTCTTCAATTCAGGACCGCTGCCTGGCAGCCATTGCTGCTGTTGAAAGTATCAATTGTCCTGATACTGTAATATGAGCTTTACAGTGTGATGCCATTTTACATATGGTTGGACTTTTTGGTGGGTGTTGCCAGATTCCTATTTCAGGAAATTGACTTGTTTAAATGCAGATTGTGAGAGGGAGGGAAAATGGCAAGATGTGAGATTTTTATTGAATAGTCTTCTACCTTAGCCCAGTCACCCAACTGCTTTTTTGAATCTTCTCTGATATGGATGATTAAATGTAGTTCTATTTTGCTGTGAAAAGTTTGGGAGTTTTCAGTTCTTTTGTCTTTTTCCATCTTCTTGCAACAGATTTGGAAAACAGATTCTTAACCTGTGCCATTTTCAGAGTCAGTCACCTAGTTTTGTTTTATTTGAGAAGCACCTGAGTTTGAAGCAATGCAAAATATGAGATCCTTCATGGTTTTGTATTACATCGTTGGAAATGGATGTAAATTCCAAAGATTCAGCAAATAAGAGTATAGCCATTAGCCACAAGGGTTTTTTTGGTTTGTTTTTTGTTTTTTACTTTGAGACAGCGTCTTGTTCTGTTGCCCAGGCTGAAGTGCAGTGGCATGATCATGGCTCATTGTGGCCTTAACCTCCTGGGCTCAAGCCATCCTCCTGCTTCAACCTCCTGCATTGCTGGGACTAAAGGCACGTGCCACTATGCCAGGCTAATTTTTCAATTTTTATTTTTTTAAATAGAGATGGGATCTCTTATGTTGCCCAGGCTGGTCTTGAATTCCTCCTGGTCTCAAGCGATCTTCCCACTTCGGCCTCCCAAAGTGCTGGGATATAGACGGGAGCCATTGTGCCCGACCTGGCAGTCGTCTACTAAGAGCTTTGGTAACTCATTAGCCTCGTGGCTCTGAGGTAGGTGGTAGTATTCCATTTTACAGATGAGAAAACTGGGACACGTTTGCCCGGTCAAATGGCTAGTGCGTTGTGAAATAGAAATGTAAACTCAGAATTGCTAGCTTCATAGCTTTTGCGGTGGACCACTGTG
Task1_train_27654
This variant lies on Chromosome 20 and affects the gene PANK2 (pantothenate kinase 2). Based on this context, is the mutation pathogenic or benign? If pathogenic, what disease does it cause?
Pathogenic; Pigmentary pallidal degeneration
TGGTCTTGAACTCCTGACCTCAGGTGATCTGCCCTCCTCATCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACCGTGCCCGGCCTAAACCCACATCTTTAGTAATTTCTACGATTTAGATTGGGAGGGGAAGCATGTACAGATGCTTTTTGACTTACGATGTTTATGCTACATTCCATAAACCCATCAGAAGTTCAAAATACTGTAAATCAGGCTGGGCGCAGTGGTTCACACTTGTAATCCCAGCACTTTGGGAGGCTGACCTGGGTGGACTGCTTGAGCCCAGGAGTTCAAGACCAGCCTGGCAACATGGGGAAACCCTGTTTCTACAAAAAATACAAAAATTAGGTGGGTGTGGTGGCATGCACCTTTAGTCCCAGCTGCTCAGGAGGCTGAGATAGGAGGATTACTTGAGCCCAGGAGGCAGAGGTTGCAGTGAGCTGAGATTGTGGCGTTGCATTCTAGCCTGGGTGACAGTGAGACCTTACCTCAAAAAAGAGAAAAAGAAAATACTGTAAGTCAAAATGCATTTAATATACCCAGCCTATTGAACATCATAGCTTAGCCAAACCTACCTTAAATGTGCTTAGAACCCTTATATTAGCCTACAGTTGGGCAAAATCTTCTAGCATAAAGCTAGATGATTTAATAATGAATAATATAAAAGATAATTATTTTACAATAAAATGTCGAATATCTTGTAATTTATTGAATACTGTACTAAAAATAAAAAAAACAATAAATACTTGAAGTAGAGTTTCTACTGAATGCTTATTGCACCATTGTAAATTTGAAAAATCATTACTTTGAGCCCTCATTAAATTGGGACCTTCCATATGTCTGTGCAGTCCACTTTGATCCAATCTCTTCAGGCCTTTTTTTTCTTTGAGACGGAGTGTCACTCTGTCGCCAGGCTAGAGTGCAGTGGTGCGATCTTGGCTCACTGCAGCTTCTGCCTCATGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCGGAGTAGCTGGGACTACAAGCGCACGCCACCACAGCCAGCTGATTTCTGTATTTTTAGTAGAGATAGTTTCACCATGTTGGCCAGGATGATCTTGGTCTCTTGACCTTGTGATTCACCTGCCTTAGCCTCCCCAAGTGTTGGGATTACAGGCGTGAGCCACCGTGCCCAGCCCTGCCTTTTTTTTTTTTTTTTTTTTTTGAGACAGAGCCTCACTCTGTCGCCCAGGCTGGAGTGCAGTGGTGTGATCTCAGCTCACTGCAGTCTCCACCTCCCAGGTTGAAGCAGTTCTGGTTTAGATTTCCTGAGTAGCTGGTACTACAGGTGCACGTCACCATGCCTGGCTAATTTTTGTTTTAGTAGAGATGGGGTTTTACCATATTGGTCAGGCTGGTCTCAAACTTCTGACCTCAGGTGATCCACCCACCTTGGCCTCCCAAAGTGTTGAAATTACAGGTGTGAGCCACTGCGCTTGGCCTAAAGGACATTTTGGGAACCGGTGTTAATGTCTATTGAAACCTTTTATTTTTGGAATATCAGATTTTGAAAGATAAATTGACCATTGGAGGTTATATGTTACATAGGTTTGGGAATTTCCTGTTTCTAGTTTGCTGCTAAACCAGAACTCTGAAGTCTCAATGTTTTTTTTTAAGCCGATAGGAAAGAGAGATTTTCATTCTGAATCTTTGTTTTTCACAGTTGAGGCTTACGAGTAGTCATCTTGTTATTTTTAAAACACTTCATAGTGCGGTTTGCGCTTGTCTGACAGAATGGTTGGGTTGGCTCAATACTTTGATATTTTTCTTTTTCGTCTTTGCCGTAGTATTTTTTTTTTAAGTTATGCATCTAAATCAAGACAGAATCACATTTCTTTGCCCCAAAACCCTTTTGCCTAGAATTATGTTCTTTGGAAACCCTAGCGTTTGAAATAAGTTGCTACTGTGGTAAGGGTAAATTTAATTTTCAGAAAAAAGCTGTTCTGACTTATTTTTCTTCCCCATTTAGTTTTTCCATGGTTTGGACTGGATATCGGTGGAACTCTGGTCAAGCTGGTATATTTTGAACCCAAAGACATCACTGCTGAAGAAGAAGAGGAAGAAGTGGAAAGTCTTAAAAGCATTCGGAAGTACCTGACCTCCAATGTGGCTTATGGGTCTACAGGCATTCGGGACGTGCACCTCGAGCTGAAGGACCTGACTCTGTGTGGACGCAAAGGCAATCTGCACTTTATACGCTTTCCCACTCATGACATGCCTGCTTTTATTCAAATGGGCAGAGATAAAAACTTCTCGAGTCTCCACACTGTCTTTTGTGCCACTGGAGGTGGAGCGTACAAATTTGAGCAGGATTTTCTCACAGTATGCATTTTTTAGCTTATATACAATTTATGGTAATTTGATTGTTAAAAATAATGCCAGTAGCAAGTGGTGAAATAATTTCCATCTCTAATGGAACTTGAATTTTCTTGAGTCAAATGAAGATTAAAGGTACGCTAGTGATAGGAGTTGGCCATCTAGAGGTGGTTGTCTAGTTCAGATGTATGGACGACAATCAGAACCACTAAAAGGGTAGCATTTTATTGCTCCTTTAGTATGAAAAATTAGGGCATCTGCTATACGTTGAGGAAGAAACTACCTAAAAGGAACATCATTAGATCATGAACAATGAGATTGAAATATAATTAAAATCATTTCATGTCATAAAATTGTTTTCAGTCTTGTCTACCACATAATTTCTCTTGTCTCCCTCAGTTGTTTGCTGGCATGTTCACTAACTGAAAAAAATAAGGAACTCTGGTCAAAAGTGGTGTTTTCAGGCTCAGGGCTGGTCTGAGATGGGTGACTGCAGAGCCCTCCTCTCCCAGAATGCTTTCTGATGTGTTCTGTGCTGCACACTTAACTGGAGTCTCGCCACCATGTCTGGCCCCTGGGGAATGCTGCCAGGCGCTCTATCTTGCTTTCATTGAGTGAACACTGGAGAACATTGTGAGCAAGACCTTGAGGCTAGGTCCTTTCAGGGTGGATGGTGGGGGTAGGCCGGAGAACTGACAAATGAATAAGCCAAGATCCTGACCGTCAGGGTGCAATACAGATTGAAAATGTCTTCAGTGACTGACTGTTTTTCTGTTGCTAAATGAGAGAATATTAGTCTGAAAGAGATTCTGCCTTTTTGTTTTGTTTTGTTTTCTTGAGATGGAGTTTTGTTCTTGTTCCCAGGCTGGAATGCAATGGCTCAACACAACCTCCACCTCTCGGGTTCAAGCGATTCTCCTGCTTCAGCCTCCCAAGTAGCTGGGATTACAGGCATGTGCCACCACGCCCGGCTAATTTTGTATTTTTAGTAGAGACAGGGTTTCTCCATGTTGGTCAGGCTGGTCTCGAACTCCTGATCTCAGGTGATCTGCCTGCTTCAGCCTCCCAAAGTGCTGGGATTACAGGGGTGAGTCACCTTGCCCGGCCCAGATTCTGCCTGTTATTCTGCATGTCTTTTAGTAGAGATGGGGTTTCACCATGTTGTCCAGGCTGGTCTGGAACACCTGACCTCAAGTGATCTGCCTGCCTCGGCCTCCCAAAGTGTTGGAATTACAGGTGTGAGCCACCGTTCCTGGCCTCAACTTTTTGACTAACATGCCTTGGAGTTCTTCCCACTTCAGAACATAAAGATCCTCTTCATTTTTGTTTTGTTTTGAGACGGAGTCTCGCCCTGTCACCTAGGTTGGAGTGCAGTGGTGCCATCTCAGCTCACTGCAACCTCTGCCTCCTGGGTTCAAGAGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGTTTACAGGCGTGCACCACCATACCCAGCTAATTTTTTTTTTTATCTTTAGTAGAGACTGGGTTTCACCATGTTGGCCAGGCTGATCTTGAACTCCTGACCTTGTGATCCACCTGTCTCAGCCTCCCAAAGTGCTGGGATTATAGGCGTGAGCCACCGTGCCCGGCCGATCCTCTTCATTTTTAGTTGCTATACAGTGCTCCATAATACGAATAATAATTTAGTCATTCCTTTATTATTTAAATGGAATTAATTGATTATGAAACAGTTCAAATTTTGACTGCTAAAATTCCCCTCCCTC
TGGTCTTGAACTCCTGACCTCAGGTGATCTGCCCTCCTCATCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACCGTGCCCGGCCTAAACCCACATCTTTAGTAATTTCTACGATTTAGATTGGGAGGGGAAGCATGTACAGATGCTTTTTGACTTACGATGTTTATGCTACATTCCATAAACCCATCAGAAGTTCAAAATACTGTAAATCAGGCTGGGCGCAGTGGTTCACACTTGTAATCCCAGCACTTTGGGAGGCTGACCTGGGTGGACTGCTTGAGCCCAGGAGTTCAAGACCAGCCTGGCAACATGGGGAAACCCTGTTTCTACAAAAAATACAAAAATTAGGTGGGTGTGGTGGCATGCACCTTTAGTCCCAGCTGCTCAGGAGGCTGAGATAGGAGGATTACTTGAGCCCAGGAGGCAGAGGTTGCAGTGAGCTGAGATTGTGGCGTTGCATTCTAGCCTGGGTGACAGTGAGACCTTACCTCAAAAAAGAGAAAAAGAAAATACTGTAAGTCAAAATGCATTTAATATACCCAGCCTATTGAACATCATAGCTTAGCCAAACCTACCTTAAATGTGCTTAGAACCCTTATATTAGCCTACAGTTGGGCAAAATCTTCTAGCATAAAGCTAGATGATTTAATAATGAATAATATAAAAGATAATTATTTTACAATAAAATGTCGAATATCTTGTAATTTATTGAATACTGTACTAAAAATAAAAAAAACAATAAATACTTGAAGTAGAGTTTCTACTGAATGCTTATTGCACCATTGTAAATTTGAAAAATCATTACTTTGAGCCCTCATTAAATTGGGACCTTCCATATGTCTGTGCAGTCCACTTTGATCCAATCTCTTCAGGCCTTTTTTTTCTTTGAGACGGAGTGTCACTCTGTCGCCAGGCTAGAGTGCAGTGGTGCGATCTTGGCTCACTGCAGCTTCTGCCTCATGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCGGAGTAGCTGGGACTACAAGCGCACGCCACCACAGCCAGCTGATTTCTGTATTTTTAGTAGAGATAGTTTCACCATGTTGGCCAGGATGATCTTGGTCTCTTGACCTTGTGATTCACCTGCCTTAGCCTCCCCAAGTGTTGGGATTACAGGCGTGAGCCACCGTGCCCAGCCCTGCCTTTTTTTTTTTTTTTTTTTTTTGAGACAGAGCCTCACTCTGTCGCCCAGGCTGGAGTGCAGTGGTGTGATCTCAGCTCACTGCAGTCTCCACCTCCCAGGTTGAAGCAGTTCTGGTTTAGATTTCCTGAGTAGCTGGTACTACAGGTGCACGTCACCATGCCTGGCTAATTTTTGTTTTAGTAGAGATGGGGTTTTACCATATTGGTCAGGCTGGTCTCAAACTTCTGACCTCAGGTGATCCACCCACCTTGGCCTCCCAAAGTGTTGAAATTACAGGTGTGAGCCACTGCGCTTGGCCTAAAGGACATTTTGGGAACCGGTGTTAATGTCTATTGAAACCTTTTATTTTTGGAATATCAGATTTTGAAAGATAAATTGACCATTGGAGGTTATATGTTACATAGGTTTGGGAATTTCCTGTTTCTAGTTTGCTGCTAAACCAGAACTCTGAAGTCTCAATGTTTTTTTTTAAGCCGATAGGAAAGAGAGATTTTCATTCTGAATCTTTGTTTTTCACAGTTGAGGCTTACGAGTAGTCATCTTGTTATTTTTAAAACACTTCATAGTGCGGTTTGCGCTTGTCTGACAGAATGGTTGGGTTGGCTCAATACTTTGATATTTTTCTTTTTCGTCTTTGCCGTAGTATTTTTTTTTTAAGTTATGCATCTAAATCAAGACAGAATCACATTTCTTTGCCCCAAAACCCTTTTGCCTAGAATTATGTTCTTTGGAAACCCTAGCGTTTGAAATAAGTTGCTACTGTGGTAAGGGTAAATTTAATTTTCAGAAAAAAGCTGTTCTGACTTATTTTTCTTCCCCATTTAGTTTTTCCATGGTTTGGACTGGATATCGGTGGAACTCTGGTCAAGCTGGTATGTTTTGAACCCAAAGACATCACTGCTGAAGAAGAAGAGGAAGAAGTGGAAAGTCTTAAAAGCATTCGGAAGTACCTGACCTCCAATGTGGCTTATGGGTCTACAGGCATTCGGGACGTGCACCTCGAGCTGAAGGACCTGACTCTGTGTGGACGCAAAGGCAATCTGCACTTTATACGCTTTCCCACTCATGACATGCCTGCTTTTATTCAAATGGGCAGAGATAAAAACTTCTCGAGTCTCCACACTGTCTTTTGTGCCACTGGAGGTGGAGCGTACAAATTTGAGCAGGATTTTCTCACAGTATGCATTTTTTAGCTTATATACAATTTATGGTAATTTGATTGTTAAAAATAATGCCAGTAGCAAGTGGTGAAATAATTTCCATCTCTAATGGAACTTGAATTTTCTTGAGTCAAATGAAGATTAAAGGTACGCTAGTGATAGGAGTTGGCCATCTAGAGGTGGTTGTCTAGTTCAGATGTATGGACGACAATCAGAACCACTAAAAGGGTAGCATTTTATTGCTCCTTTAGTATGAAAAATTAGGGCATCTGCTATACGTTGAGGAAGAAACTACCTAAAAGGAACATCATTAGATCATGAACAATGAGATTGAAATATAATTAAAATCATTTCATGTCATAAAATTGTTTTCAGTCTTGTCTACCACATAATTTCTCTTGTCTCCCTCAGTTGTTTGCTGGCATGTTCACTAACTGAAAAAAATAAGGAACTCTGGTCAAAAGTGGTGTTTTCAGGCTCAGGGCTGGTCTGAGATGGGTGACTGCAGAGCCCTCCTCTCCCAGAATGCTTTCTGATGTGTTCTGTGCTGCACACTTAACTGGAGTCTCGCCACCATGTCTGGCCCCTGGGGAATGCTGCCAGGCGCTCTATCTTGCTTTCATTGAGTGAACACTGGAGAACATTGTGAGCAAGACCTTGAGGCTAGGTCCTTTCAGGGTGGATGGTGGGGGTAGGCCGGAGAACTGACAAATGAATAAGCCAAGATCCTGACCGTCAGGGTGCAATACAGATTGAAAATGTCTTCAGTGACTGACTGTTTTTCTGTTGCTAAATGAGAGAATATTAGTCTGAAAGAGATTCTGCCTTTTTGTTTTGTTTTGTTTTCTTGAGATGGAGTTTTGTTCTTGTTCCCAGGCTGGAATGCAATGGCTCAACACAACCTCCACCTCTCGGGTTCAAGCGATTCTCCTGCTTCAGCCTCCCAAGTAGCTGGGATTACAGGCATGTGCCACCACGCCCGGCTAATTTTGTATTTTTAGTAGAGACAGGGTTTCTCCATGTTGGTCAGGCTGGTCTCGAACTCCTGATCTCAGGTGATCTGCCTGCTTCAGCCTCCCAAAGTGCTGGGATTACAGGGGTGAGTCACCTTGCCCGGCCCAGATTCTGCCTGTTATTCTGCATGTCTTTTAGTAGAGATGGGGTTTCACCATGTTGTCCAGGCTGGTCTGGAACACCTGACCTCAAGTGATCTGCCTGCCTCGGCCTCCCAAAGTGTTGGAATTACAGGTGTGAGCCACCGTTCCTGGCCTCAACTTTTTGACTAACATGCCTTGGAGTTCTTCCCACTTCAGAACATAAAGATCCTCTTCATTTTTGTTTTGTTTTGAGACGGAGTCTCGCCCTGTCACCTAGGTTGGAGTGCAGTGGTGCCATCTCAGCTCACTGCAACCTCTGCCTCCTGGGTTCAAGAGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGTTTACAGGCGTGCACCACCATACCCAGCTAATTTTTTTTTTTATCTTTAGTAGAGACTGGGTTTCACCATGTTGGCCAGGCTGATCTTGAACTCCTGACCTTGTGATCCACCTGTCTCAGCCTCCCAAAGTGCTGGGATTATAGGCGTGAGCCACCGTGCCCGGCCGATCCTCTTCATTTTTAGTTGCTATACAGTGCTCCATAATACGAATAATAATTTAGTCATTCCTTTATTATTTAAATGGAATTAATTGATTATGAAACAGTTCAAATTTTGACTGCTAAAATTCCCCTCCCTC
Task1_train_27655
A variant affecting Chromosome 20, within the gene PANK2 (pantothenate kinase 2), has been observed. Determine if it's benign or associated with disease.
Pathogenic; Pigmentary pallidal degeneration
TCTTGAACTCCTGACCTCAGGTGATCTGCCCTCCTCATCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACCGTGCCCGGCCTAAACCCACATCTTTAGTAATTTCTACGATTTAGATTGGGAGGGGAAGCATGTACAGATGCTTTTTGACTTACGATGTTTATGCTACATTCCATAAACCCATCAGAAGTTCAAAATACTGTAAATCAGGCTGGGCGCAGTGGTTCACACTTGTAATCCCAGCACTTTGGGAGGCTGACCTGGGTGGACTGCTTGAGCCCAGGAGTTCAAGACCAGCCTGGCAACATGGGGAAACCCTGTTTCTACAAAAAATACAAAAATTAGGTGGGTGTGGTGGCATGCACCTTTAGTCCCAGCTGCTCAGGAGGCTGAGATAGGAGGATTACTTGAGCCCAGGAGGCAGAGGTTGCAGTGAGCTGAGATTGTGGCGTTGCATTCTAGCCTGGGTGACAGTGAGACCTTACCTCAAAAAAGAGAAAAAGAAAATACTGTAAGTCAAAATGCATTTAATATACCCAGCCTATTGAACATCATAGCTTAGCCAAACCTACCTTAAATGTGCTTAGAACCCTTATATTAGCCTACAGTTGGGCAAAATCTTCTAGCATAAAGCTAGATGATTTAATAATGAATAATATAAAAGATAATTATTTTACAATAAAATGTCGAATATCTTGTAATTTATTGAATACTGTACTAAAAATAAAAAAAACAATAAATACTTGAAGTAGAGTTTCTACTGAATGCTTATTGCACCATTGTAAATTTGAAAAATCATTACTTTGAGCCCTCATTAAATTGGGACCTTCCATATGTCTGTGCAGTCCACTTTGATCCAATCTCTTCAGGCCTTTTTTTTCTTTGAGACGGAGTGTCACTCTGTCGCCAGGCTAGAGTGCAGTGGTGCGATCTTGGCTCACTGCAGCTTCTGCCTCATGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCGGAGTAGCTGGGACTACAAGCGCACGCCACCACAGCCAGCTGATTTCTGTATTTTTAGTAGAGATAGTTTCACCATGTTGGCCAGGATGATCTTGGTCTCTTGACCTTGTGATTCACCTGCCTTAGCCTCCCCAAGTGTTGGGATTACAGGCGTGAGCCACCGTGCCCAGCCCTGCCTTTTTTTTTTTTTTTTTTTTTTGAGACAGAGCCTCACTCTGTCGCCCAGGCTGGAGTGCAGTGGTGTGATCTCAGCTCACTGCAGTCTCCACCTCCCAGGTTGAAGCAGTTCTGGTTTAGATTTCCTGAGTAGCTGGTACTACAGGTGCACGTCACCATGCCTGGCTAATTTTTGTTTTAGTAGAGATGGGGTTTTACCATATTGGTCAGGCTGGTCTCAAACTTCTGACCTCAGGTGATCCACCCACCTTGGCCTCCCAAAGTGTTGAAATTACAGGTGTGAGCCACTGCGCTTGGCCTAAAGGACATTTTGGGAACCGGTGTTAATGTCTATTGAAACCTTTTATTTTTGGAATATCAGATTTTGAAAGATAAATTGACCATTGGAGGTTATATGTTACATAGGTTTGGGAATTTCCTGTTTCTAGTTTGCTGCTAAACCAGAACTCTGAAGTCTCAATGTTTTTTTTTAAGCCGATAGGAAAGAGAGATTTTCATTCTGAATCTTTGTTTTTCACAGTTGAGGCTTACGAGTAGTCATCTTGTTATTTTTAAAACACTTCATAGTGCGGTTTGCGCTTGTCTGACAGAATGGTTGGGTTGGCTCAATACTTTGATATTTTTCTTTTTCGTCTTTGCCGTAGTATTTTTTTTTTAAGTTATGCATCTAAATCAAGACAGAATCACATTTCTTTGCCCCAAAACCCTTTTGCCTAGAATTATGTTCTTTGGAAACCCTAGCGTTTGAAATAAGTTGCTACTGTGGTAAGGGTAAATTTAATTTTCAGAAAAAAGCTGTTCTGACTTATTTTTCTTCCCCATTTAGTTTTTCCATGGTTTGGACTGGATATCGGTGGAACTCTGGTCAAGCTGGTATATTTTGAACCCAAAGACATCACTGCTGAAGAAGAAGAGGAAGAAGTGGAAAGTCTTAAAAGCATTCGGAAGTACCTGACCTCCAATGTGGCTTATGGGTCTACAGGCATTCGGGACGTGCACCTCGAGCTGAAGGACCTGACTCTGTGTGGACGCAAAGGCAATCTGCACTTTATACGCTTTCCCACTCATGACATGCCTGCTTTTATTCAAATGGGCAGAGATAAAAACTTCTCGAGTCTCCACACTGTCTTTTGTGCCACTGGAGGTGGAGCGTACAAATTTGAGCAGGATTTTCTCACAGTATGCATTTTTTAGCTTATATACAATTTATGGTAATTTGATTGTTAAAAATAATGCCAGTAGCAAGTGGTGAAATAATTTCCATCTCTAATGGAACTTGAATTTTCTTGAGTCAAATGAAGATTAAAGGTACGCTAGTGATAGGAGTTGGCCATCTAGAGGTGGTTGTCTAGTTCAGATGTATGGACGACAATCAGAACCACTAAAAGGGTAGCATTTTATTGCTCCTTTAGTATGAAAAATTAGGGCATCTGCTATACGTTGAGGAAGAAACTACCTAAAAGGAACATCATTAGATCATGAACAATGAGATTGAAATATAATTAAAATCATTTCATGTCATAAAATTGTTTTCAGTCTTGTCTACCACATAATTTCTCTTGTCTCCCTCAGTTGTTTGCTGGCATGTTCACTAACTGAAAAAAATAAGGAACTCTGGTCAAAAGTGGTGTTTTCAGGCTCAGGGCTGGTCTGAGATGGGTGACTGCAGAGCCCTCCTCTCCCAGAATGCTTTCTGATGTGTTCTGTGCTGCACACTTAACTGGAGTCTCGCCACCATGTCTGGCCCCTGGGGAATGCTGCCAGGCGCTCTATCTTGCTTTCATTGAGTGAACACTGGAGAACATTGTGAGCAAGACCTTGAGGCTAGGTCCTTTCAGGGTGGATGGTGGGGGTAGGCCGGAGAACTGACAAATGAATAAGCCAAGATCCTGACCGTCAGGGTGCAATACAGATTGAAAATGTCTTCAGTGACTGACTGTTTTTCTGTTGCTAAATGAGAGAATATTAGTCTGAAAGAGATTCTGCCTTTTTGTTTTGTTTTGTTTTCTTGAGATGGAGTTTTGTTCTTGTTCCCAGGCTGGAATGCAATGGCTCAACACAACCTCCACCTCTCGGGTTCAAGCGATTCTCCTGCTTCAGCCTCCCAAGTAGCTGGGATTACAGGCATGTGCCACCACGCCCGGCTAATTTTGTATTTTTAGTAGAGACAGGGTTTCTCCATGTTGGTCAGGCTGGTCTCGAACTCCTGATCTCAGGTGATCTGCCTGCTTCAGCCTCCCAAAGTGCTGGGATTACAGGGGTGAGTCACCTTGCCCGGCCCAGATTCTGCCTGTTATTCTGCATGTCTTTTAGTAGAGATGGGGTTTCACCATGTTGTCCAGGCTGGTCTGGAACACCTGACCTCAAGTGATCTGCCTGCCTCGGCCTCCCAAAGTGTTGGAATTACAGGTGTGAGCCACCGTTCCTGGCCTCAACTTTTTGACTAACATGCCTTGGAGTTCTTCCCACTTCAGAACATAAAGATCCTCTTCATTTTTGTTTTGTTTTGAGACGGAGTCTCGCCCTGTCACCTAGGTTGGAGTGCAGTGGTGCCATCTCAGCTCACTGCAACCTCTGCCTCCTGGGTTCAAGAGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGTTTACAGGCGTGCACCACCATACCCAGCTAATTTTTTTTTTTATCTTTAGTAGAGACTGGGTTTCACCATGTTGGCCAGGCTGATCTTGAACTCCTGACCTTGTGATCCACCTGTCTCAGCCTCCCAAAGTGCTGGGATTATAGGCGTGAGCCACCGTGCCCGGCCGATCCTCTTCATTTTTAGTTGCTATACAGTGCTCCATAATACGAATAATAATTTAGTCATTCCTTTATTATTTAAATGGAATTAATTGATTATGAAACAGTTCAAATTTTGACTGCTAAAATTCCCCTCCCTCCCA
TCTTGAACTCCTGACCTCAGGTGATCTGCCCTCCTCATCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACCGTGCCCGGCCTAAACCCACATCTTTAGTAATTTCTACGATTTAGATTGGGAGGGGAAGCATGTACAGATGCTTTTTGACTTACGATGTTTATGCTACATTCCATAAACCCATCAGAAGTTCAAAATACTGTAAATCAGGCTGGGCGCAGTGGTTCACACTTGTAATCCCAGCACTTTGGGAGGCTGACCTGGGTGGACTGCTTGAGCCCAGGAGTTCAAGACCAGCCTGGCAACATGGGGAAACCCTGTTTCTACAAAAAATACAAAAATTAGGTGGGTGTGGTGGCATGCACCTTTAGTCCCAGCTGCTCAGGAGGCTGAGATAGGAGGATTACTTGAGCCCAGGAGGCAGAGGTTGCAGTGAGCTGAGATTGTGGCGTTGCATTCTAGCCTGGGTGACAGTGAGACCTTACCTCAAAAAAGAGAAAAAGAAAATACTGTAAGTCAAAATGCATTTAATATACCCAGCCTATTGAACATCATAGCTTAGCCAAACCTACCTTAAATGTGCTTAGAACCCTTATATTAGCCTACAGTTGGGCAAAATCTTCTAGCATAAAGCTAGATGATTTAATAATGAATAATATAAAAGATAATTATTTTACAATAAAATGTCGAATATCTTGTAATTTATTGAATACTGTACTAAAAATAAAAAAAACAATAAATACTTGAAGTAGAGTTTCTACTGAATGCTTATTGCACCATTGTAAATTTGAAAAATCATTACTTTGAGCCCTCATTAAATTGGGACCTTCCATATGTCTGTGCAGTCCACTTTGATCCAATCTCTTCAGGCCTTTTTTTTCTTTGAGACGGAGTGTCACTCTGTCGCCAGGCTAGAGTGCAGTGGTGCGATCTTGGCTCACTGCAGCTTCTGCCTCATGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCGGAGTAGCTGGGACTACAAGCGCACGCCACCACAGCCAGCTGATTTCTGTATTTTTAGTAGAGATAGTTTCACCATGTTGGCCAGGATGATCTTGGTCTCTTGACCTTGTGATTCACCTGCCTTAGCCTCCCCAAGTGTTGGGATTACAGGCGTGAGCCACCGTGCCCAGCCCTGCCTTTTTTTTTTTTTTTTTTTTTTGAGACAGAGCCTCACTCTGTCGCCCAGGCTGGAGTGCAGTGGTGTGATCTCAGCTCACTGCAGTCTCCACCTCCCAGGTTGAAGCAGTTCTGGTTTAGATTTCCTGAGTAGCTGGTACTACAGGTGCACGTCACCATGCCTGGCTAATTTTTGTTTTAGTAGAGATGGGGTTTTACCATATTGGTCAGGCTGGTCTCAAACTTCTGACCTCAGGTGATCCACCCACCTTGGCCTCCCAAAGTGTTGAAATTACAGGTGTGAGCCACTGCGCTTGGCCTAAAGGACATTTTGGGAACCGGTGTTAATGTCTATTGAAACCTTTTATTTTTGGAATATCAGATTTTGAAAGATAAATTGACCATTGGAGGTTATATGTTACATAGGTTTGGGAATTTCCTGTTTCTAGTTTGCTGCTAAACCAGAACTCTGAAGTCTCAATGTTTTTTTTTAAGCCGATAGGAAAGAGAGATTTTCATTCTGAATCTTTGTTTTTCACAGTTGAGGCTTACGAGTAGTCATCTTGTTATTTTTAAAACACTTCATAGTGCGGTTTGCGCTTGTCTGACAGAATGGTTGGGTTGGCTCAATACTTTGATATTTTTCTTTTTCGTCTTTGCCGTAGTATTTTTTTTTTAAGTTATGCATCTAAATCAAGACAGAATCACATTTCTTTGCCCCAAAACCCTTTTGCCTAGAATTATGTTCTTTGGAAACCCTAGCGTTTGAAATAAGTTGCTACTGTGGTAAGGGTAAATTTAATTTTCAGAAAAAAGCTGTTCTGACTTATTTTTCTTCCCCATTTAGTTTTTCCATGGTTTGGACTGGATATCGGTGGAACTCTGGTCAAGCTGGTATATTCTGAACCCAAAGACATCACTGCTGAAGAAGAAGAGGAAGAAGTGGAAAGTCTTAAAAGCATTCGGAAGTACCTGACCTCCAATGTGGCTTATGGGTCTACAGGCATTCGGGACGTGCACCTCGAGCTGAAGGACCTGACTCTGTGTGGACGCAAAGGCAATCTGCACTTTATACGCTTTCCCACTCATGACATGCCTGCTTTTATTCAAATGGGCAGAGATAAAAACTTCTCGAGTCTCCACACTGTCTTTTGTGCCACTGGAGGTGGAGCGTACAAATTTGAGCAGGATTTTCTCACAGTATGCATTTTTTAGCTTATATACAATTTATGGTAATTTGATTGTTAAAAATAATGCCAGTAGCAAGTGGTGAAATAATTTCCATCTCTAATGGAACTTGAATTTTCTTGAGTCAAATGAAGATTAAAGGTACGCTAGTGATAGGAGTTGGCCATCTAGAGGTGGTTGTCTAGTTCAGATGTATGGACGACAATCAGAACCACTAAAAGGGTAGCATTTTATTGCTCCTTTAGTATGAAAAATTAGGGCATCTGCTATACGTTGAGGAAGAAACTACCTAAAAGGAACATCATTAGATCATGAACAATGAGATTGAAATATAATTAAAATCATTTCATGTCATAAAATTGTTTTCAGTCTTGTCTACCACATAATTTCTCTTGTCTCCCTCAGTTGTTTGCTGGCATGTTCACTAACTGAAAAAAATAAGGAACTCTGGTCAAAAGTGGTGTTTTCAGGCTCAGGGCTGGTCTGAGATGGGTGACTGCAGAGCCCTCCTCTCCCAGAATGCTTTCTGATGTGTTCTGTGCTGCACACTTAACTGGAGTCTCGCCACCATGTCTGGCCCCTGGGGAATGCTGCCAGGCGCTCTATCTTGCTTTCATTGAGTGAACACTGGAGAACATTGTGAGCAAGACCTTGAGGCTAGGTCCTTTCAGGGTGGATGGTGGGGGTAGGCCGGAGAACTGACAAATGAATAAGCCAAGATCCTGACCGTCAGGGTGCAATACAGATTGAAAATGTCTTCAGTGACTGACTGTTTTTCTGTTGCTAAATGAGAGAATATTAGTCTGAAAGAGATTCTGCCTTTTTGTTTTGTTTTGTTTTCTTGAGATGGAGTTTTGTTCTTGTTCCCAGGCTGGAATGCAATGGCTCAACACAACCTCCACCTCTCGGGTTCAAGCGATTCTCCTGCTTCAGCCTCCCAAGTAGCTGGGATTACAGGCATGTGCCACCACGCCCGGCTAATTTTGTATTTTTAGTAGAGACAGGGTTTCTCCATGTTGGTCAGGCTGGTCTCGAACTCCTGATCTCAGGTGATCTGCCTGCTTCAGCCTCCCAAAGTGCTGGGATTACAGGGGTGAGTCACCTTGCCCGGCCCAGATTCTGCCTGTTATTCTGCATGTCTTTTAGTAGAGATGGGGTTTCACCATGTTGTCCAGGCTGGTCTGGAACACCTGACCTCAAGTGATCTGCCTGCCTCGGCCTCCCAAAGTGTTGGAATTACAGGTGTGAGCCACCGTTCCTGGCCTCAACTTTTTGACTAACATGCCTTGGAGTTCTTCCCACTTCAGAACATAAAGATCCTCTTCATTTTTGTTTTGTTTTGAGACGGAGTCTCGCCCTGTCACCTAGGTTGGAGTGCAGTGGTGCCATCTCAGCTCACTGCAACCTCTGCCTCCTGGGTTCAAGAGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGTTTACAGGCGTGCACCACCATACCCAGCTAATTTTTTTTTTTATCTTTAGTAGAGACTGGGTTTCACCATGTTGGCCAGGCTGATCTTGAACTCCTGACCTTGTGATCCACCTGTCTCAGCCTCCCAAAGTGCTGGGATTATAGGCGTGAGCCACCGTGCCCGGCCGATCCTCTTCATTTTTAGTTGCTATACAGTGCTCCATAATACGAATAATAATTTAGTCATTCCTTTATTATTTAAATGGAATTAATTGATTATGAAACAGTTCAAATTTTGACTGCTAAAATTCCCCTCCCTCCCA
Task1_train_27656
A variant was discovered in gene PANK2 (pantothenate kinase 2), Chromosome 20. Please indicate if this mutation results in a known disease or if it's non-harmful.
Pathogenic; Pigmentary pallidal degeneration
TCCATAAACCCATCAGAAGTTCAAAATACTGTAAATCAGGCTGGGCGCAGTGGTTCACACTTGTAATCCCAGCACTTTGGGAGGCTGACCTGGGTGGACTGCTTGAGCCCAGGAGTTCAAGACCAGCCTGGCAACATGGGGAAACCCTGTTTCTACAAAAAATACAAAAATTAGGTGGGTGTGGTGGCATGCACCTTTAGTCCCAGCTGCTCAGGAGGCTGAGATAGGAGGATTACTTGAGCCCAGGAGGCAGAGGTTGCAGTGAGCTGAGATTGTGGCGTTGCATTCTAGCCTGGGTGACAGTGAGACCTTACCTCAAAAAAGAGAAAAAGAAAATACTGTAAGTCAAAATGCATTTAATATACCCAGCCTATTGAACATCATAGCTTAGCCAAACCTACCTTAAATGTGCTTAGAACCCTTATATTAGCCTACAGTTGGGCAAAATCTTCTAGCATAAAGCTAGATGATTTAATAATGAATAATATAAAAGATAATTATTTTACAATAAAATGTCGAATATCTTGTAATTTATTGAATACTGTACTAAAAATAAAAAAAACAATAAATACTTGAAGTAGAGTTTCTACTGAATGCTTATTGCACCATTGTAAATTTGAAAAATCATTACTTTGAGCCCTCATTAAATTGGGACCTTCCATATGTCTGTGCAGTCCACTTTGATCCAATCTCTTCAGGCCTTTTTTTTCTTTGAGACGGAGTGTCACTCTGTCGCCAGGCTAGAGTGCAGTGGTGCGATCTTGGCTCACTGCAGCTTCTGCCTCATGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCGGAGTAGCTGGGACTACAAGCGCACGCCACCACAGCCAGCTGATTTCTGTATTTTTAGTAGAGATAGTTTCACCATGTTGGCCAGGATGATCTTGGTCTCTTGACCTTGTGATTCACCTGCCTTAGCCTCCCCAAGTGTTGGGATTACAGGCGTGAGCCACCGTGCCCAGCCCTGCCTTTTTTTTTTTTTTTTTTTTTTGAGACAGAGCCTCACTCTGTCGCCCAGGCTGGAGTGCAGTGGTGTGATCTCAGCTCACTGCAGTCTCCACCTCCCAGGTTGAAGCAGTTCTGGTTTAGATTTCCTGAGTAGCTGGTACTACAGGTGCACGTCACCATGCCTGGCTAATTTTTGTTTTAGTAGAGATGGGGTTTTACCATATTGGTCAGGCTGGTCTCAAACTTCTGACCTCAGGTGATCCACCCACCTTGGCCTCCCAAAGTGTTGAAATTACAGGTGTGAGCCACTGCGCTTGGCCTAAAGGACATTTTGGGAACCGGTGTTAATGTCTATTGAAACCTTTTATTTTTGGAATATCAGATTTTGAAAGATAAATTGACCATTGGAGGTTATATGTTACATAGGTTTGGGAATTTCCTGTTTCTAGTTTGCTGCTAAACCAGAACTCTGAAGTCTCAATGTTTTTTTTTAAGCCGATAGGAAAGAGAGATTTTCATTCTGAATCTTTGTTTTTCACAGTTGAGGCTTACGAGTAGTCATCTTGTTATTTTTAAAACACTTCATAGTGCGGTTTGCGCTTGTCTGACAGAATGGTTGGGTTGGCTCAATACTTTGATATTTTTCTTTTTCGTCTTTGCCGTAGTATTTTTTTTTTAAGTTATGCATCTAAATCAAGACAGAATCACATTTCTTTGCCCCAAAACCCTTTTGCCTAGAATTATGTTCTTTGGAAACCCTAGCGTTTGAAATAAGTTGCTACTGTGGTAAGGGTAAATTTAATTTTCAGAAAAAAGCTGTTCTGACTTATTTTTCTTCCCCATTTAGTTTTTCCATGGTTTGGACTGGATATCGGTGGAACTCTGGTCAAGCTGGTATATTTTGAACCCAAAGACATCACTGCTGAAGAAGAAGAGGAAGAAGTGGAAAGTCTTAAAAGCATTCGGAAGTACCTGACCTCCAATGTGGCTTATGGGTCTACAGGCATTCGGGACGTGCACCTCGAGCTGAAGGACCTGACTCTGTGTGGACGCAAAGGCAATCTGCACTTTATACGCTTTCCCACTCATGACATGCCTGCTTTTATTCAAATGGGCAGAGATAAAAACTTCTCGAGTCTCCACACTGTCTTTTGTGCCACTGGAGGTGGAGCGTACAAATTTGAGCAGGATTTTCTCACAGTATGCATTTTTTAGCTTATATACAATTTATGGTAATTTGATTGTTAAAAATAATGCCAGTAGCAAGTGGTGAAATAATTTCCATCTCTAATGGAACTTGAATTTTCTTGAGTCAAATGAAGATTAAAGGTACGCTAGTGATAGGAGTTGGCCATCTAGAGGTGGTTGTCTAGTTCAGATGTATGGACGACAATCAGAACCACTAAAAGGGTAGCATTTTATTGCTCCTTTAGTATGAAAAATTAGGGCATCTGCTATACGTTGAGGAAGAAACTACCTAAAAGGAACATCATTAGATCATGAACAATGAGATTGAAATATAATTAAAATCATTTCATGTCATAAAATTGTTTTCAGTCTTGTCTACCACATAATTTCTCTTGTCTCCCTCAGTTGTTTGCTGGCATGTTCACTAACTGAAAAAAATAAGGAACTCTGGTCAAAAGTGGTGTTTTCAGGCTCAGGGCTGGTCTGAGATGGGTGACTGCAGAGCCCTCCTCTCCCAGAATGCTTTCTGATGTGTTCTGTGCTGCACACTTAACTGGAGTCTCGCCACCATGTCTGGCCCCTGGGGAATGCTGCCAGGCGCTCTATCTTGCTTTCATTGAGTGAACACTGGAGAACATTGTGAGCAAGACCTTGAGGCTAGGTCCTTTCAGGGTGGATGGTGGGGGTAGGCCGGAGAACTGACAAATGAATAAGCCAAGATCCTGACCGTCAGGGTGCAATACAGATTGAAAATGTCTTCAGTGACTGACTGTTTTTCTGTTGCTAAATGAGAGAATATTAGTCTGAAAGAGATTCTGCCTTTTTGTTTTGTTTTGTTTTCTTGAGATGGAGTTTTGTTCTTGTTCCCAGGCTGGAATGCAATGGCTCAACACAACCTCCACCTCTCGGGTTCAAGCGATTCTCCTGCTTCAGCCTCCCAAGTAGCTGGGATTACAGGCATGTGCCACCACGCCCGGCTAATTTTGTATTTTTAGTAGAGACAGGGTTTCTCCATGTTGGTCAGGCTGGTCTCGAACTCCTGATCTCAGGTGATCTGCCTGCTTCAGCCTCCCAAAGTGCTGGGATTACAGGGGTGAGTCACCTTGCCCGGCCCAGATTCTGCCTGTTATTCTGCATGTCTTTTAGTAGAGATGGGGTTTCACCATGTTGTCCAGGCTGGTCTGGAACACCTGACCTCAAGTGATCTGCCTGCCTCGGCCTCCCAAAGTGTTGGAATTACAGGTGTGAGCCACCGTTCCTGGCCTCAACTTTTTGACTAACATGCCTTGGAGTTCTTCCCACTTCAGAACATAAAGATCCTCTTCATTTTTGTTTTGTTTTGAGACGGAGTCTCGCCCTGTCACCTAGGTTGGAGTGCAGTGGTGCCATCTCAGCTCACTGCAACCTCTGCCTCCTGGGTTCAAGAGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGTTTACAGGCGTGCACCACCATACCCAGCTAATTTTTTTTTTTATCTTTAGTAGAGACTGGGTTTCACCATGTTGGCCAGGCTGATCTTGAACTCCTGACCTTGTGATCCACCTGTCTCAGCCTCCCAAAGTGCTGGGATTATAGGCGTGAGCCACCGTGCCCGGCCGATCCTCTTCATTTTTAGTTGCTATACAGTGCTCCATAATACGAATAATAATTTAGTCATTCCTTTATTATTTAAATGGAATTAATTGATTATGAAACAGTTCAAATTTTGACTGCTAAAATTCCCCTCCCTCCCAAGAGGCTGTAGCTAGTTTAGATAGTGAAAAAAATCTTACCTTCTAACTGGATACTTTCAGCCTTTTGGCTTCAGTTTGTTAAATAATGTGTGGCCTCTTTTGATACTGCTCCAAAGCCTTGAGATGGTCCTCTGTCACAGTCCTTGTGGCTCCCACCCTGTGTCACAAGGTGG
TCCATAAACCCATCAGAAGTTCAAAATACTGTAAATCAGGCTGGGCGCAGTGGTTCACACTTGTAATCCCAGCACTTTGGGAGGCTGACCTGGGTGGACTGCTTGAGCCCAGGAGTTCAAGACCAGCCTGGCAACATGGGGAAACCCTGTTTCTACAAAAAATACAAAAATTAGGTGGGTGTGGTGGCATGCACCTTTAGTCCCAGCTGCTCAGGAGGCTGAGATAGGAGGATTACTTGAGCCCAGGAGGCAGAGGTTGCAGTGAGCTGAGATTGTGGCGTTGCATTCTAGCCTGGGTGACAGTGAGACCTTACCTCAAAAAAGAGAAAAAGAAAATACTGTAAGTCAAAATGCATTTAATATACCCAGCCTATTGAACATCATAGCTTAGCCAAACCTACCTTAAATGTGCTTAGAACCCTTATATTAGCCTACAGTTGGGCAAAATCTTCTAGCATAAAGCTAGATGATTTAATAATGAATAATATAAAAGATAATTATTTTACAATAAAATGTCGAATATCTTGTAATTTATTGAATACTGTACTAAAAATAAAAAAAACAATAAATACTTGAAGTAGAGTTTCTACTGAATGCTTATTGCACCATTGTAAATTTGAAAAATCATTACTTTGAGCCCTCATTAAATTGGGACCTTCCATATGTCTGTGCAGTCCACTTTGATCCAATCTCTTCAGGCCTTTTTTTTCTTTGAGACGGAGTGTCACTCTGTCGCCAGGCTAGAGTGCAGTGGTGCGATCTTGGCTCACTGCAGCTTCTGCCTCATGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCGGAGTAGCTGGGACTACAAGCGCACGCCACCACAGCCAGCTGATTTCTGTATTTTTAGTAGAGATAGTTTCACCATGTTGGCCAGGATGATCTTGGTCTCTTGACCTTGTGATTCACCTGCCTTAGCCTCCCCAAGTGTTGGGATTACAGGCGTGAGCCACCGTGCCCAGCCCTGCCTTTTTTTTTTTTTTTTTTTTTTGAGACAGAGCCTCACTCTGTCGCCCAGGCTGGAGTGCAGTGGTGTGATCTCAGCTCACTGCAGTCTCCACCTCCCAGGTTGAAGCAGTTCTGGTTTAGATTTCCTGAGTAGCTGGTACTACAGGTGCACGTCACCATGCCTGGCTAATTTTTGTTTTAGTAGAGATGGGGTTTTACCATATTGGTCAGGCTGGTCTCAAACTTCTGACCTCAGGTGATCCACCCACCTTGGCCTCCCAAAGTGTTGAAATTACAGGTGTGAGCCACTGCGCTTGGCCTAAAGGACATTTTGGGAACCGGTGTTAATGTCTATTGAAACCTTTTATTTTTGGAATATCAGATTTTGAAAGATAAATTGACCATTGGAGGTTATATGTTACATAGGTTTGGGAATTTCCTGTTTCTAGTTTGCTGCTAAACCAGAACTCTGAAGTCTCAATGTTTTTTTTTAAGCCGATAGGAAAGAGAGATTTTCATTCTGAATCTTTGTTTTTCACAGTTGAGGCTTACGAGTAGTCATCTTGTTATTTTTAAAACACTTCATAGTGCGGTTTGCGCTTGTCTGACAGAATGGTTGGGTTGGCTCAATACTTTGATATTTTTCTTTTTCGTCTTTGCCGTAGTATTTTTTTTTTAAGTTATGCATCTAAATCAAGACAGAATCACATTTCTTTGCCCCAAAACCCTTTTGCCTAGAATTATGTTCTTTGGAAACCCTAGCGTTTGAAATAAGTTGCTACTGTGGTAAGGGTAAATTTAATTTTCAGAAAAAAGCTGTTCTGACTTATTTTTCTTCCCCATTTAGTTTTTCCATGGTTTGGACTGGATATCGGTGGAACTCTGGTCAAGCTGGTATATTTTGAACCCAAAGACATCACTGCTGAAGAAGAAGAGGAAGAAGTGGAAAGTCTTAAAAGCATTCGGAAGTACCTGACCTCCAATGTGGCTTATGGGTCTACAGGCATTCGGGACGTGCACCTCGAGCTGAAGGACCTGACTCTGTGTGGACGCAAAGGCAATCTGCACTTTATATGCTTTCCCACTCATGACATGCCTGCTTTTATTCAAATGGGCAGAGATAAAAACTTCTCGAGTCTCCACACTGTCTTTTGTGCCACTGGAGGTGGAGCGTACAAATTTGAGCAGGATTTTCTCACAGTATGCATTTTTTAGCTTATATACAATTTATGGTAATTTGATTGTTAAAAATAATGCCAGTAGCAAGTGGTGAAATAATTTCCATCTCTAATGGAACTTGAATTTTCTTGAGTCAAATGAAGATTAAAGGTACGCTAGTGATAGGAGTTGGCCATCTAGAGGTGGTTGTCTAGTTCAGATGTATGGACGACAATCAGAACCACTAAAAGGGTAGCATTTTATTGCTCCTTTAGTATGAAAAATTAGGGCATCTGCTATACGTTGAGGAAGAAACTACCTAAAAGGAACATCATTAGATCATGAACAATGAGATTGAAATATAATTAAAATCATTTCATGTCATAAAATTGTTTTCAGTCTTGTCTACCACATAATTTCTCTTGTCTCCCTCAGTTGTTTGCTGGCATGTTCACTAACTGAAAAAAATAAGGAACTCTGGTCAAAAGTGGTGTTTTCAGGCTCAGGGCTGGTCTGAGATGGGTGACTGCAGAGCCCTCCTCTCCCAGAATGCTTTCTGATGTGTTCTGTGCTGCACACTTAACTGGAGTCTCGCCACCATGTCTGGCCCCTGGGGAATGCTGCCAGGCGCTCTATCTTGCTTTCATTGAGTGAACACTGGAGAACATTGTGAGCAAGACCTTGAGGCTAGGTCCTTTCAGGGTGGATGGTGGGGGTAGGCCGGAGAACTGACAAATGAATAAGCCAAGATCCTGACCGTCAGGGTGCAATACAGATTGAAAATGTCTTCAGTGACTGACTGTTTTTCTGTTGCTAAATGAGAGAATATTAGTCTGAAAGAGATTCTGCCTTTTTGTTTTGTTTTGTTTTCTTGAGATGGAGTTTTGTTCTTGTTCCCAGGCTGGAATGCAATGGCTCAACACAACCTCCACCTCTCGGGTTCAAGCGATTCTCCTGCTTCAGCCTCCCAAGTAGCTGGGATTACAGGCATGTGCCACCACGCCCGGCTAATTTTGTATTTTTAGTAGAGACAGGGTTTCTCCATGTTGGTCAGGCTGGTCTCGAACTCCTGATCTCAGGTGATCTGCCTGCTTCAGCCTCCCAAAGTGCTGGGATTACAGGGGTGAGTCACCTTGCCCGGCCCAGATTCTGCCTGTTATTCTGCATGTCTTTTAGTAGAGATGGGGTTTCACCATGTTGTCCAGGCTGGTCTGGAACACCTGACCTCAAGTGATCTGCCTGCCTCGGCCTCCCAAAGTGTTGGAATTACAGGTGTGAGCCACCGTTCCTGGCCTCAACTTTTTGACTAACATGCCTTGGAGTTCTTCCCACTTCAGAACATAAAGATCCTCTTCATTTTTGTTTTGTTTTGAGACGGAGTCTCGCCCTGTCACCTAGGTTGGAGTGCAGTGGTGCCATCTCAGCTCACTGCAACCTCTGCCTCCTGGGTTCAAGAGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGTTTACAGGCGTGCACCACCATACCCAGCTAATTTTTTTTTTTATCTTTAGTAGAGACTGGGTTTCACCATGTTGGCCAGGCTGATCTTGAACTCCTGACCTTGTGATCCACCTGTCTCAGCCTCCCAAAGTGCTGGGATTATAGGCGTGAGCCACCGTGCCCGGCCGATCCTCTTCATTTTTAGTTGCTATACAGTGCTCCATAATACGAATAATAATTTAGTCATTCCTTTATTATTTAAATGGAATTAATTGATTATGAAACAGTTCAAATTTTGACTGCTAAAATTCCCCTCCCTCCCAAGAGGCTGTAGCTAGTTTAGATAGTGAAAAAAATCTTACCTTCTAACTGGATACTTTCAGCCTTTTGGCTTCAGTTTGTTAAATAATGTGTGGCCTCTTTTGATACTGCTCCAAAGCCTTGAGATGGTCCTCTGTCACAGTCCTTGTGGCTCCCACCCTGTGTCACAAGGTGG
Task1_train_27657
This variant impacts the gene PANK2 (pantothenate kinase 2) on Chromosome 20. Is the change likely to result in a pathogenic outcome?
Pathogenic; Neurodegeneration
GGCTGGGCGCAGTGGTTCACACTTGTAATCCCAGCACTTTGGGAGGCTGACCTGGGTGGACTGCTTGAGCCCAGGAGTTCAAGACCAGCCTGGCAACATGGGGAAACCCTGTTTCTACAAAAAATACAAAAATTAGGTGGGTGTGGTGGCATGCACCTTTAGTCCCAGCTGCTCAGGAGGCTGAGATAGGAGGATTACTTGAGCCCAGGAGGCAGAGGTTGCAGTGAGCTGAGATTGTGGCGTTGCATTCTAGCCTGGGTGACAGTGAGACCTTACCTCAAAAAAGAGAAAAAGAAAATACTGTAAGTCAAAATGCATTTAATATACCCAGCCTATTGAACATCATAGCTTAGCCAAACCTACCTTAAATGTGCTTAGAACCCTTATATTAGCCTACAGTTGGGCAAAATCTTCTAGCATAAAGCTAGATGATTTAATAATGAATAATATAAAAGATAATTATTTTACAATAAAATGTCGAATATCTTGTAATTTATTGAATACTGTACTAAAAATAAAAAAAACAATAAATACTTGAAGTAGAGTTTCTACTGAATGCTTATTGCACCATTGTAAATTTGAAAAATCATTACTTTGAGCCCTCATTAAATTGGGACCTTCCATATGTCTGTGCAGTCCACTTTGATCCAATCTCTTCAGGCCTTTTTTTTCTTTGAGACGGAGTGTCACTCTGTCGCCAGGCTAGAGTGCAGTGGTGCGATCTTGGCTCACTGCAGCTTCTGCCTCATGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCGGAGTAGCTGGGACTACAAGCGCACGCCACCACAGCCAGCTGATTTCTGTATTTTTAGTAGAGATAGTTTCACCATGTTGGCCAGGATGATCTTGGTCTCTTGACCTTGTGATTCACCTGCCTTAGCCTCCCCAAGTGTTGGGATTACAGGCGTGAGCCACCGTGCCCAGCCCTGCCTTTTTTTTTTTTTTTTTTTTTTGAGACAGAGCCTCACTCTGTCGCCCAGGCTGGAGTGCAGTGGTGTGATCTCAGCTCACTGCAGTCTCCACCTCCCAGGTTGAAGCAGTTCTGGTTTAGATTTCCTGAGTAGCTGGTACTACAGGTGCACGTCACCATGCCTGGCTAATTTTTGTTTTAGTAGAGATGGGGTTTTACCATATTGGTCAGGCTGGTCTCAAACTTCTGACCTCAGGTGATCCACCCACCTTGGCCTCCCAAAGTGTTGAAATTACAGGTGTGAGCCACTGCGCTTGGCCTAAAGGACATTTTGGGAACCGGTGTTAATGTCTATTGAAACCTTTTATTTTTGGAATATCAGATTTTGAAAGATAAATTGACCATTGGAGGTTATATGTTACATAGGTTTGGGAATTTCCTGTTTCTAGTTTGCTGCTAAACCAGAACTCTGAAGTCTCAATGTTTTTTTTTAAGCCGATAGGAAAGAGAGATTTTCATTCTGAATCTTTGTTTTTCACAGTTGAGGCTTACGAGTAGTCATCTTGTTATTTTTAAAACACTTCATAGTGCGGTTTGCGCTTGTCTGACAGAATGGTTGGGTTGGCTCAATACTTTGATATTTTTCTTTTTCGTCTTTGCCGTAGTATTTTTTTTTTAAGTTATGCATCTAAATCAAGACAGAATCACATTTCTTTGCCCCAAAACCCTTTTGCCTAGAATTATGTTCTTTGGAAACCCTAGCGTTTGAAATAAGTTGCTACTGTGGTAAGGGTAAATTTAATTTTCAGAAAAAAGCTGTTCTGACTTATTTTTCTTCCCCATTTAGTTTTTCCATGGTTTGGACTGGATATCGGTGGAACTCTGGTCAAGCTGGTATATTTTGAACCCAAAGACATCACTGCTGAAGAAGAAGAGGAAGAAGTGGAAAGTCTTAAAAGCATTCGGAAGTACCTGACCTCCAATGTGGCTTATGGGTCTACAGGCATTCGGGACGTGCACCTCGAGCTGAAGGACCTGACTCTGTGTGGACGCAAAGGCAATCTGCACTTTATACGCTTTCCCACTCATGACATGCCTGCTTTTATTCAAATGGGCAGAGATAAAAACTTCTCGAGTCTCCACACTGTCTTTTGTGCCACTGGAGGTGGAGCGTACAAATTTGAGCAGGATTTTCTCACAGTATGCATTTTTTAGCTTATATACAATTTATGGTAATTTGATTGTTAAAAATAATGCCAGTAGCAAGTGGTGAAATAATTTCCATCTCTAATGGAACTTGAATTTTCTTGAGTCAAATGAAGATTAAAGGTACGCTAGTGATAGGAGTTGGCCATCTAGAGGTGGTTGTCTAGTTCAGATGTATGGACGACAATCAGAACCACTAAAAGGGTAGCATTTTATTGCTCCTTTAGTATGAAAAATTAGGGCATCTGCTATACGTTGAGGAAGAAACTACCTAAAAGGAACATCATTAGATCATGAACAATGAGATTGAAATATAATTAAAATCATTTCATGTCATAAAATTGTTTTCAGTCTTGTCTACCACATAATTTCTCTTGTCTCCCTCAGTTGTTTGCTGGCATGTTCACTAACTGAAAAAAATAAGGAACTCTGGTCAAAAGTGGTGTTTTCAGGCTCAGGGCTGGTCTGAGATGGGTGACTGCAGAGCCCTCCTCTCCCAGAATGCTTTCTGATGTGTTCTGTGCTGCACACTTAACTGGAGTCTCGCCACCATGTCTGGCCCCTGGGGAATGCTGCCAGGCGCTCTATCTTGCTTTCATTGAGTGAACACTGGAGAACATTGTGAGCAAGACCTTGAGGCTAGGTCCTTTCAGGGTGGATGGTGGGGGTAGGCCGGAGAACTGACAAATGAATAAGCCAAGATCCTGACCGTCAGGGTGCAATACAGATTGAAAATGTCTTCAGTGACTGACTGTTTTTCTGTTGCTAAATGAGAGAATATTAGTCTGAAAGAGATTCTGCCTTTTTGTTTTGTTTTGTTTTCTTGAGATGGAGTTTTGTTCTTGTTCCCAGGCTGGAATGCAATGGCTCAACACAACCTCCACCTCTCGGGTTCAAGCGATTCTCCTGCTTCAGCCTCCCAAGTAGCTGGGATTACAGGCATGTGCCACCACGCCCGGCTAATTTTGTATTTTTAGTAGAGACAGGGTTTCTCCATGTTGGTCAGGCTGGTCTCGAACTCCTGATCTCAGGTGATCTGCCTGCTTCAGCCTCCCAAAGTGCTGGGATTACAGGGGTGAGTCACCTTGCCCGGCCCAGATTCTGCCTGTTATTCTGCATGTCTTTTAGTAGAGATGGGGTTTCACCATGTTGTCCAGGCTGGTCTGGAACACCTGACCTCAAGTGATCTGCCTGCCTCGGCCTCCCAAAGTGTTGGAATTACAGGTGTGAGCCACCGTTCCTGGCCTCAACTTTTTGACTAACATGCCTTGGAGTTCTTCCCACTTCAGAACATAAAGATCCTCTTCATTTTTGTTTTGTTTTGAGACGGAGTCTCGCCCTGTCACCTAGGTTGGAGTGCAGTGGTGCCATCTCAGCTCACTGCAACCTCTGCCTCCTGGGTTCAAGAGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGTTTACAGGCGTGCACCACCATACCCAGCTAATTTTTTTTTTTATCTTTAGTAGAGACTGGGTTTCACCATGTTGGCCAGGCTGATCTTGAACTCCTGACCTTGTGATCCACCTGTCTCAGCCTCCCAAAGTGCTGGGATTATAGGCGTGAGCCACCGTGCCCGGCCGATCCTCTTCATTTTTAGTTGCTATACAGTGCTCCATAATACGAATAATAATTTAGTCATTCCTTTATTATTTAAATGGAATTAATTGATTATGAAACAGTTCAAATTTTGACTGCTAAAATTCCCCTCCCTCCCAAGAGGCTGTAGCTAGTTTAGATAGTGAAAAAAATCTTACCTTCTAACTGGATACTTTCAGCCTTTTGGCTTCAGTTTGTTAAATAATGTGTGGCCTCTTTTGATACTGCTCCAAAGCCTTGAGATGGTCCTCTGTCACAGTCCTTGTGGCTCCCACCCTGTGTCACAAGGTGGTTTCTGATAGTGCTGTGGCCTGAGCTTGGTATCAGCCC
GGCTGGGCGCAGTGGTTCACACTTGTAATCCCAGCACTTTGGGAGGCTGACCTGGGTGGACTGCTTGAGCCCAGGAGTTCAAGACCAGCCTGGCAACATGGGGAAACCCTGTTTCTACAAAAAATACAAAAATTAGGTGGGTGTGGTGGCATGCACCTTTAGTCCCAGCTGCTCAGGAGGCTGAGATAGGAGGATTACTTGAGCCCAGGAGGCAGAGGTTGCAGTGAGCTGAGATTGTGGCGTTGCATTCTAGCCTGGGTGACAGTGAGACCTTACCTCAAAAAAGAGAAAAAGAAAATACTGTAAGTCAAAATGCATTTAATATACCCAGCCTATTGAACATCATAGCTTAGCCAAACCTACCTTAAATGTGCTTAGAACCCTTATATTAGCCTACAGTTGGGCAAAATCTTCTAGCATAAAGCTAGATGATTTAATAATGAATAATATAAAAGATAATTATTTTACAATAAAATGTCGAATATCTTGTAATTTATTGAATACTGTACTAAAAATAAAAAAAACAATAAATACTTGAAGTAGAGTTTCTACTGAATGCTTATTGCACCATTGTAAATTTGAAAAATCATTACTTTGAGCCCTCATTAAATTGGGACCTTCCATATGTCTGTGCAGTCCACTTTGATCCAATCTCTTCAGGCCTTTTTTTTCTTTGAGACGGAGTGTCACTCTGTCGCCAGGCTAGAGTGCAGTGGTGCGATCTTGGCTCACTGCAGCTTCTGCCTCATGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCGGAGTAGCTGGGACTACAAGCGCACGCCACCACAGCCAGCTGATTTCTGTATTTTTAGTAGAGATAGTTTCACCATGTTGGCCAGGATGATCTTGGTCTCTTGACCTTGTGATTCACCTGCCTTAGCCTCCCCAAGTGTTGGGATTACAGGCGTGAGCCACCGTGCCCAGCCCTGCCTTTTTTTTTTTTTTTTTTTTTTGAGACAGAGCCTCACTCTGTCGCCCAGGCTGGAGTGCAGTGGTGTGATCTCAGCTCACTGCAGTCTCCACCTCCCAGGTTGAAGCAGTTCTGGTTTAGATTTCCTGAGTAGCTGGTACTACAGGTGCACGTCACCATGCCTGGCTAATTTTTGTTTTAGTAGAGATGGGGTTTTACCATATTGGTCAGGCTGGTCTCAAACTTCTGACCTCAGGTGATCCACCCACCTTGGCCTCCCAAAGTGTTGAAATTACAGGTGTGAGCCACTGCGCTTGGCCTAAAGGACATTTTGGGAACCGGTGTTAATGTCTATTGAAACCTTTTATTTTTGGAATATCAGATTTTGAAAGATAAATTGACCATTGGAGGTTATATGTTACATAGGTTTGGGAATTTCCTGTTTCTAGTTTGCTGCTAAACCAGAACTCTGAAGTCTCAATGTTTTTTTTTAAGCCGATAGGAAAGAGAGATTTTCATTCTGAATCTTTGTTTTTCACAGTTGAGGCTTACGAGTAGTCATCTTGTTATTTTTAAAACACTTCATAGTGCGGTTTGCGCTTGTCTGACAGAATGGTTGGGTTGGCTCAATACTTTGATATTTTTCTTTTTCGTCTTTGCCGTAGTATTTTTTTTTTAAGTTATGCATCTAAATCAAGACAGAATCACATTTCTTTGCCCCAAAACCCTTTTGCCTAGAATTATGTTCTTTGGAAACCCTAGCGTTTGAAATAAGTTGCTACTGTGGTAAGGGTAAATTTAATTTTCAGAAAAAAGCTGTTCTGACTTATTTTTCTTCCCCATTTAGTTTTTCCATGGTTTGGACTGGATATCGGTGGAACTCTGGTCAAGCTGGTATATTTTGAACCCAAAGACATCACTGCTGAAGAAGAAGAGGAAGAAGTGGAAAGTCTTAAAAGCATTCGGAAGTACCTGACCTCCAATGTGGCTTATGGGTCTACAGGCATTCGGGACGTGCACCTCGAGCTGAAGGACCTGACTCTGTGTGGACGCAAAGGCAATCTGCACTTTATACGCTTTCCCACTCATGACATGCCTGCTTTTATTCAAATAGGCAGAGATAAAAACTTCTCGAGTCTCCACACTGTCTTTTGTGCCACTGGAGGTGGAGCGTACAAATTTGAGCAGGATTTTCTCACAGTATGCATTTTTTAGCTTATATACAATTTATGGTAATTTGATTGTTAAAAATAATGCCAGTAGCAAGTGGTGAAATAATTTCCATCTCTAATGGAACTTGAATTTTCTTGAGTCAAATGAAGATTAAAGGTACGCTAGTGATAGGAGTTGGCCATCTAGAGGTGGTTGTCTAGTTCAGATGTATGGACGACAATCAGAACCACTAAAAGGGTAGCATTTTATTGCTCCTTTAGTATGAAAAATTAGGGCATCTGCTATACGTTGAGGAAGAAACTACCTAAAAGGAACATCATTAGATCATGAACAATGAGATTGAAATATAATTAAAATCATTTCATGTCATAAAATTGTTTTCAGTCTTGTCTACCACATAATTTCTCTTGTCTCCCTCAGTTGTTTGCTGGCATGTTCACTAACTGAAAAAAATAAGGAACTCTGGTCAAAAGTGGTGTTTTCAGGCTCAGGGCTGGTCTGAGATGGGTGACTGCAGAGCCCTCCTCTCCCAGAATGCTTTCTGATGTGTTCTGTGCTGCACACTTAACTGGAGTCTCGCCACCATGTCTGGCCCCTGGGGAATGCTGCCAGGCGCTCTATCTTGCTTTCATTGAGTGAACACTGGAGAACATTGTGAGCAAGACCTTGAGGCTAGGTCCTTTCAGGGTGGATGGTGGGGGTAGGCCGGAGAACTGACAAATGAATAAGCCAAGATCCTGACCGTCAGGGTGCAATACAGATTGAAAATGTCTTCAGTGACTGACTGTTTTTCTGTTGCTAAATGAGAGAATATTAGTCTGAAAGAGATTCTGCCTTTTTGTTTTGTTTTGTTTTCTTGAGATGGAGTTTTGTTCTTGTTCCCAGGCTGGAATGCAATGGCTCAACACAACCTCCACCTCTCGGGTTCAAGCGATTCTCCTGCTTCAGCCTCCCAAGTAGCTGGGATTACAGGCATGTGCCACCACGCCCGGCTAATTTTGTATTTTTAGTAGAGACAGGGTTTCTCCATGTTGGTCAGGCTGGTCTCGAACTCCTGATCTCAGGTGATCTGCCTGCTTCAGCCTCCCAAAGTGCTGGGATTACAGGGGTGAGTCACCTTGCCCGGCCCAGATTCTGCCTGTTATTCTGCATGTCTTTTAGTAGAGATGGGGTTTCACCATGTTGTCCAGGCTGGTCTGGAACACCTGACCTCAAGTGATCTGCCTGCCTCGGCCTCCCAAAGTGTTGGAATTACAGGTGTGAGCCACCGTTCCTGGCCTCAACTTTTTGACTAACATGCCTTGGAGTTCTTCCCACTTCAGAACATAAAGATCCTCTTCATTTTTGTTTTGTTTTGAGACGGAGTCTCGCCCTGTCACCTAGGTTGGAGTGCAGTGGTGCCATCTCAGCTCACTGCAACCTCTGCCTCCTGGGTTCAAGAGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGTTTACAGGCGTGCACCACCATACCCAGCTAATTTTTTTTTTTATCTTTAGTAGAGACTGGGTTTCACCATGTTGGCCAGGCTGATCTTGAACTCCTGACCTTGTGATCCACCTGTCTCAGCCTCCCAAAGTGCTGGGATTATAGGCGTGAGCCACCGTGCCCGGCCGATCCTCTTCATTTTTAGTTGCTATACAGTGCTCCATAATACGAATAATAATTTAGTCATTCCTTTATTATTTAAATGGAATTAATTGATTATGAAACAGTTCAAATTTTGACTGCTAAAATTCCCCTCCCTCCCAAGAGGCTGTAGCTAGTTTAGATAGTGAAAAAAATCTTACCTTCTAACTGGATACTTTCAGCCTTTTGGCTTCAGTTTGTTAAATAATGTGTGGCCTCTTTTGATACTGCTCCAAAGCCTTGAGATGGTCCTCTGTCACAGTCCTTGTGGCTCCCACCCTGTGTCACAAGGTGGTTTCTGATAGTGCTGTGGCCTGAGCTTGGTATCAGCCC
Task1_train_27658
This mutation occurs in PANK2 (pantothenate kinase 2) on Chromosome 20. Does this change lead to a known medical condition, or is it benign?
Pathogenic; Hypoprebetalipoproteinemia, acanthocytosis, retinitis pigmentosa, and pallidal degeneration
GGCTGGGCGCAGTGGTTCACACTTGTAATCCCAGCACTTTGGGAGGCTGACCTGGGTGGACTGCTTGAGCCCAGGAGTTCAAGACCAGCCTGGCAACATGGGGAAACCCTGTTTCTACAAAAAATACAAAAATTAGGTGGGTGTGGTGGCATGCACCTTTAGTCCCAGCTGCTCAGGAGGCTGAGATAGGAGGATTACTTGAGCCCAGGAGGCAGAGGTTGCAGTGAGCTGAGATTGTGGCGTTGCATTCTAGCCTGGGTGACAGTGAGACCTTACCTCAAAAAAGAGAAAAAGAAAATACTGTAAGTCAAAATGCATTTAATATACCCAGCCTATTGAACATCATAGCTTAGCCAAACCTACCTTAAATGTGCTTAGAACCCTTATATTAGCCTACAGTTGGGCAAAATCTTCTAGCATAAAGCTAGATGATTTAATAATGAATAATATAAAAGATAATTATTTTACAATAAAATGTCGAATATCTTGTAATTTATTGAATACTGTACTAAAAATAAAAAAAACAATAAATACTTGAAGTAGAGTTTCTACTGAATGCTTATTGCACCATTGTAAATTTGAAAAATCATTACTTTGAGCCCTCATTAAATTGGGACCTTCCATATGTCTGTGCAGTCCACTTTGATCCAATCTCTTCAGGCCTTTTTTTTCTTTGAGACGGAGTGTCACTCTGTCGCCAGGCTAGAGTGCAGTGGTGCGATCTTGGCTCACTGCAGCTTCTGCCTCATGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCGGAGTAGCTGGGACTACAAGCGCACGCCACCACAGCCAGCTGATTTCTGTATTTTTAGTAGAGATAGTTTCACCATGTTGGCCAGGATGATCTTGGTCTCTTGACCTTGTGATTCACCTGCCTTAGCCTCCCCAAGTGTTGGGATTACAGGCGTGAGCCACCGTGCCCAGCCCTGCCTTTTTTTTTTTTTTTTTTTTTTGAGACAGAGCCTCACTCTGTCGCCCAGGCTGGAGTGCAGTGGTGTGATCTCAGCTCACTGCAGTCTCCACCTCCCAGGTTGAAGCAGTTCTGGTTTAGATTTCCTGAGTAGCTGGTACTACAGGTGCACGTCACCATGCCTGGCTAATTTTTGTTTTAGTAGAGATGGGGTTTTACCATATTGGTCAGGCTGGTCTCAAACTTCTGACCTCAGGTGATCCACCCACCTTGGCCTCCCAAAGTGTTGAAATTACAGGTGTGAGCCACTGCGCTTGGCCTAAAGGACATTTTGGGAACCGGTGTTAATGTCTATTGAAACCTTTTATTTTTGGAATATCAGATTTTGAAAGATAAATTGACCATTGGAGGTTATATGTTACATAGGTTTGGGAATTTCCTGTTTCTAGTTTGCTGCTAAACCAGAACTCTGAAGTCTCAATGTTTTTTTTTAAGCCGATAGGAAAGAGAGATTTTCATTCTGAATCTTTGTTTTTCACAGTTGAGGCTTACGAGTAGTCATCTTGTTATTTTTAAAACACTTCATAGTGCGGTTTGCGCTTGTCTGACAGAATGGTTGGGTTGGCTCAATACTTTGATATTTTTCTTTTTCGTCTTTGCCGTAGTATTTTTTTTTTAAGTTATGCATCTAAATCAAGACAGAATCACATTTCTTTGCCCCAAAACCCTTTTGCCTAGAATTATGTTCTTTGGAAACCCTAGCGTTTGAAATAAGTTGCTACTGTGGTAAGGGTAAATTTAATTTTCAGAAAAAAGCTGTTCTGACTTATTTTTCTTCCCCATTTAGTTTTTCCATGGTTTGGACTGGATATCGGTGGAACTCTGGTCAAGCTGGTATATTTTGAACCCAAAGACATCACTGCTGAAGAAGAAGAGGAAGAAGTGGAAAGTCTTAAAAGCATTCGGAAGTACCTGACCTCCAATGTGGCTTATGGGTCTACAGGCATTCGGGACGTGCACCTCGAGCTGAAGGACCTGACTCTGTGTGGACGCAAAGGCAATCTGCACTTTATACGCTTTCCCACTCATGACATGCCTGCTTTTATTCAAATGGGCAGAGATAAAAACTTCTCGAGTCTCCACACTGTCTTTTGTGCCACTGGAGGTGGAGCGTACAAATTTGAGCAGGATTTTCTCACAGTATGCATTTTTTAGCTTATATACAATTTATGGTAATTTGATTGTTAAAAATAATGCCAGTAGCAAGTGGTGAAATAATTTCCATCTCTAATGGAACTTGAATTTTCTTGAGTCAAATGAAGATTAAAGGTACGCTAGTGATAGGAGTTGGCCATCTAGAGGTGGTTGTCTAGTTCAGATGTATGGACGACAATCAGAACCACTAAAAGGGTAGCATTTTATTGCTCCTTTAGTATGAAAAATTAGGGCATCTGCTATACGTTGAGGAAGAAACTACCTAAAAGGAACATCATTAGATCATGAACAATGAGATTGAAATATAATTAAAATCATTTCATGTCATAAAATTGTTTTCAGTCTTGTCTACCACATAATTTCTCTTGTCTCCCTCAGTTGTTTGCTGGCATGTTCACTAACTGAAAAAAATAAGGAACTCTGGTCAAAAGTGGTGTTTTCAGGCTCAGGGCTGGTCTGAGATGGGTGACTGCAGAGCCCTCCTCTCCCAGAATGCTTTCTGATGTGTTCTGTGCTGCACACTTAACTGGAGTCTCGCCACCATGTCTGGCCCCTGGGGAATGCTGCCAGGCGCTCTATCTTGCTTTCATTGAGTGAACACTGGAGAACATTGTGAGCAAGACCTTGAGGCTAGGTCCTTTCAGGGTGGATGGTGGGGGTAGGCCGGAGAACTGACAAATGAATAAGCCAAGATCCTGACCGTCAGGGTGCAATACAGATTGAAAATGTCTTCAGTGACTGACTGTTTTTCTGTTGCTAAATGAGAGAATATTAGTCTGAAAGAGATTCTGCCTTTTTGTTTTGTTTTGTTTTCTTGAGATGGAGTTTTGTTCTTGTTCCCAGGCTGGAATGCAATGGCTCAACACAACCTCCACCTCTCGGGTTCAAGCGATTCTCCTGCTTCAGCCTCCCAAGTAGCTGGGATTACAGGCATGTGCCACCACGCCCGGCTAATTTTGTATTTTTAGTAGAGACAGGGTTTCTCCATGTTGGTCAGGCTGGTCTCGAACTCCTGATCTCAGGTGATCTGCCTGCTTCAGCCTCCCAAAGTGCTGGGATTACAGGGGTGAGTCACCTTGCCCGGCCCAGATTCTGCCTGTTATTCTGCATGTCTTTTAGTAGAGATGGGGTTTCACCATGTTGTCCAGGCTGGTCTGGAACACCTGACCTCAAGTGATCTGCCTGCCTCGGCCTCCCAAAGTGTTGGAATTACAGGTGTGAGCCACCGTTCCTGGCCTCAACTTTTTGACTAACATGCCTTGGAGTTCTTCCCACTTCAGAACATAAAGATCCTCTTCATTTTTGTTTTGTTTTGAGACGGAGTCTCGCCCTGTCACCTAGGTTGGAGTGCAGTGGTGCCATCTCAGCTCACTGCAACCTCTGCCTCCTGGGTTCAAGAGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGTTTACAGGCGTGCACCACCATACCCAGCTAATTTTTTTTTTTATCTTTAGTAGAGACTGGGTTTCACCATGTTGGCCAGGCTGATCTTGAACTCCTGACCTTGTGATCCACCTGTCTCAGCCTCCCAAAGTGCTGGGATTATAGGCGTGAGCCACCGTGCCCGGCCGATCCTCTTCATTTTTAGTTGCTATACAGTGCTCCATAATACGAATAATAATTTAGTCATTCCTTTATTATTTAAATGGAATTAATTGATTATGAAACAGTTCAAATTTTGACTGCTAAAATTCCCCTCCCTCCCAAGAGGCTGTAGCTAGTTTAGATAGTGAAAAAAATCTTACCTTCTAACTGGATACTTTCAGCCTTTTGGCTTCAGTTTGTTAAATAATGTGTGGCCTCTTTTGATACTGCTCCAAAGCCTTGAGATGGTCCTCTGTCACAGTCCTTGTGGCTCCCACCCTGTGTCACAAGGTGGTTTCTGATAGTGCTGTGGCCTGAGCTTGGTATCAGCCC
GGCTGGGCGCAGTGGTTCACACTTGTAATCCCAGCACTTTGGGAGGCTGACCTGGGTGGACTGCTTGAGCCCAGGAGTTCAAGACCAGCCTGGCAACATGGGGAAACCCTGTTTCTACAAAAAATACAAAAATTAGGTGGGTGTGGTGGCATGCACCTTTAGTCCCAGCTGCTCAGGAGGCTGAGATAGGAGGATTACTTGAGCCCAGGAGGCAGAGGTTGCAGTGAGCTGAGATTGTGGCGTTGCATTCTAGCCTGGGTGACAGTGAGACCTTACCTCAAAAAAGAGAAAAAGAAAATACTGTAAGTCAAAATGCATTTAATATACCCAGCCTATTGAACATCATAGCTTAGCCAAACCTACCTTAAATGTGCTTAGAACCCTTATATTAGCCTACAGTTGGGCAAAATCTTCTAGCATAAAGCTAGATGATTTAATAATGAATAATATAAAAGATAATTATTTTACAATAAAATGTCGAATATCTTGTAATTTATTGAATACTGTACTAAAAATAAAAAAAACAATAAATACTTGAAGTAGAGTTTCTACTGAATGCTTATTGCACCATTGTAAATTTGAAAAATCATTACTTTGAGCCCTCATTAAATTGGGACCTTCCATATGTCTGTGCAGTCCACTTTGATCCAATCTCTTCAGGCCTTTTTTTTCTTTGAGACGGAGTGTCACTCTGTCGCCAGGCTAGAGTGCAGTGGTGCGATCTTGGCTCACTGCAGCTTCTGCCTCATGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCGGAGTAGCTGGGACTACAAGCGCACGCCACCACAGCCAGCTGATTTCTGTATTTTTAGTAGAGATAGTTTCACCATGTTGGCCAGGATGATCTTGGTCTCTTGACCTTGTGATTCACCTGCCTTAGCCTCCCCAAGTGTTGGGATTACAGGCGTGAGCCACCGTGCCCAGCCCTGCCTTTTTTTTTTTTTTTTTTTTTTGAGACAGAGCCTCACTCTGTCGCCCAGGCTGGAGTGCAGTGGTGTGATCTCAGCTCACTGCAGTCTCCACCTCCCAGGTTGAAGCAGTTCTGGTTTAGATTTCCTGAGTAGCTGGTACTACAGGTGCACGTCACCATGCCTGGCTAATTTTTGTTTTAGTAGAGATGGGGTTTTACCATATTGGTCAGGCTGGTCTCAAACTTCTGACCTCAGGTGATCCACCCACCTTGGCCTCCCAAAGTGTTGAAATTACAGGTGTGAGCCACTGCGCTTGGCCTAAAGGACATTTTGGGAACCGGTGTTAATGTCTATTGAAACCTTTTATTTTTGGAATATCAGATTTTGAAAGATAAATTGACCATTGGAGGTTATATGTTACATAGGTTTGGGAATTTCCTGTTTCTAGTTTGCTGCTAAACCAGAACTCTGAAGTCTCAATGTTTTTTTTTAAGCCGATAGGAAAGAGAGATTTTCATTCTGAATCTTTGTTTTTCACAGTTGAGGCTTACGAGTAGTCATCTTGTTATTTTTAAAACACTTCATAGTGCGGTTTGCGCTTGTCTGACAGAATGGTTGGGTTGGCTCAATACTTTGATATTTTTCTTTTTCGTCTTTGCCGTAGTATTTTTTTTTTAAGTTATGCATCTAAATCAAGACAGAATCACATTTCTTTGCCCCAAAACCCTTTTGCCTAGAATTATGTTCTTTGGAAACCCTAGCGTTTGAAATAAGTTGCTACTGTGGTAAGGGTAAATTTAATTTTCAGAAAAAAGCTGTTCTGACTTATTTTTCTTCCCCATTTAGTTTTTCCATGGTTTGGACTGGATATCGGTGGAACTCTGGTCAAGCTGGTATATTTTGAACCCAAAGACATCACTGCTGAAGAAGAAGAGGAAGAAGTGGAAAGTCTTAAAAGCATTCGGAAGTACCTGACCTCCAATGTGGCTTATGGGTCTACAGGCATTCGGGACGTGCACCTCGAGCTGAAGGACCTGACTCTGTGTGGACGCAAAGGCAATCTGCACTTTATACGCTTTCCCACTCATGACATGCCTGCTTTTATTCAAATAGGCAGAGATAAAAACTTCTCGAGTCTCCACACTGTCTTTTGTGCCACTGGAGGTGGAGCGTACAAATTTGAGCAGGATTTTCTCACAGTATGCATTTTTTAGCTTATATACAATTTATGGTAATTTGATTGTTAAAAATAATGCCAGTAGCAAGTGGTGAAATAATTTCCATCTCTAATGGAACTTGAATTTTCTTGAGTCAAATGAAGATTAAAGGTACGCTAGTGATAGGAGTTGGCCATCTAGAGGTGGTTGTCTAGTTCAGATGTATGGACGACAATCAGAACCACTAAAAGGGTAGCATTTTATTGCTCCTTTAGTATGAAAAATTAGGGCATCTGCTATACGTTGAGGAAGAAACTACCTAAAAGGAACATCATTAGATCATGAACAATGAGATTGAAATATAATTAAAATCATTTCATGTCATAAAATTGTTTTCAGTCTTGTCTACCACATAATTTCTCTTGTCTCCCTCAGTTGTTTGCTGGCATGTTCACTAACTGAAAAAAATAAGGAACTCTGGTCAAAAGTGGTGTTTTCAGGCTCAGGGCTGGTCTGAGATGGGTGACTGCAGAGCCCTCCTCTCCCAGAATGCTTTCTGATGTGTTCTGTGCTGCACACTTAACTGGAGTCTCGCCACCATGTCTGGCCCCTGGGGAATGCTGCCAGGCGCTCTATCTTGCTTTCATTGAGTGAACACTGGAGAACATTGTGAGCAAGACCTTGAGGCTAGGTCCTTTCAGGGTGGATGGTGGGGGTAGGCCGGAGAACTGACAAATGAATAAGCCAAGATCCTGACCGTCAGGGTGCAATACAGATTGAAAATGTCTTCAGTGACTGACTGTTTTTCTGTTGCTAAATGAGAGAATATTAGTCTGAAAGAGATTCTGCCTTTTTGTTTTGTTTTGTTTTCTTGAGATGGAGTTTTGTTCTTGTTCCCAGGCTGGAATGCAATGGCTCAACACAACCTCCACCTCTCGGGTTCAAGCGATTCTCCTGCTTCAGCCTCCCAAGTAGCTGGGATTACAGGCATGTGCCACCACGCCCGGCTAATTTTGTATTTTTAGTAGAGACAGGGTTTCTCCATGTTGGTCAGGCTGGTCTCGAACTCCTGATCTCAGGTGATCTGCCTGCTTCAGCCTCCCAAAGTGCTGGGATTACAGGGGTGAGTCACCTTGCCCGGCCCAGATTCTGCCTGTTATTCTGCATGTCTTTTAGTAGAGATGGGGTTTCACCATGTTGTCCAGGCTGGTCTGGAACACCTGACCTCAAGTGATCTGCCTGCCTCGGCCTCCCAAAGTGTTGGAATTACAGGTGTGAGCCACCGTTCCTGGCCTCAACTTTTTGACTAACATGCCTTGGAGTTCTTCCCACTTCAGAACATAAAGATCCTCTTCATTTTTGTTTTGTTTTGAGACGGAGTCTCGCCCTGTCACCTAGGTTGGAGTGCAGTGGTGCCATCTCAGCTCACTGCAACCTCTGCCTCCTGGGTTCAAGAGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGTTTACAGGCGTGCACCACCATACCCAGCTAATTTTTTTTTTTATCTTTAGTAGAGACTGGGTTTCACCATGTTGGCCAGGCTGATCTTGAACTCCTGACCTTGTGATCCACCTGTCTCAGCCTCCCAAAGTGCTGGGATTATAGGCGTGAGCCACCGTGCCCGGCCGATCCTCTTCATTTTTAGTTGCTATACAGTGCTCCATAATACGAATAATAATTTAGTCATTCCTTTATTATTTAAATGGAATTAATTGATTATGAAACAGTTCAAATTTTGACTGCTAAAATTCCCCTCCCTCCCAAGAGGCTGTAGCTAGTTTAGATAGTGAAAAAAATCTTACCTTCTAACTGGATACTTTCAGCCTTTTGGCTTCAGTTTGTTAAATAATGTGTGGCCTCTTTTGATACTGCTCCAAAGCCTTGAGATGGTCCTCTGTCACAGTCCTTGTGGCTCCCACCCTGTGTCACAAGGTGGTTTCTGATAGTGCTGTGGCCTGAGCTTGGTATCAGCCC
Task1_train_27659
This mutation occurs in PANK2 (pantothenate kinase 2) on Chromosome 20. Does this change lead to a known medical condition, or is it benign?
Pathogenic; Pigmentary pallidal degeneration
ATAATTAAAATCATTTCATGTCATAAAATTGTTTTCAGTCTTGTCTACCACATAATTTCTCTTGTCTCCCTCAGTTGTTTGCTGGCATGTTCACTAACTGAAAAAAATAAGGAACTCTGGTCAAAAGTGGTGTTTTCAGGCTCAGGGCTGGTCTGAGATGGGTGACTGCAGAGCCCTCCTCTCCCAGAATGCTTTCTGATGTGTTCTGTGCTGCACACTTAACTGGAGTCTCGCCACCATGTCTGGCCCCTGGGGAATGCTGCCAGGCGCTCTATCTTGCTTTCATTGAGTGAACACTGGAGAACATTGTGAGCAAGACCTTGAGGCTAGGTCCTTTCAGGGTGGATGGTGGGGGTAGGCCGGAGAACTGACAAATGAATAAGCCAAGATCCTGACCGTCAGGGTGCAATACAGATTGAAAATGTCTTCAGTGACTGACTGTTTTTCTGTTGCTAAATGAGAGAATATTAGTCTGAAAGAGATTCTGCCTTTTTGTTTTGTTTTGTTTTCTTGAGATGGAGTTTTGTTCTTGTTCCCAGGCTGGAATGCAATGGCTCAACACAACCTCCACCTCTCGGGTTCAAGCGATTCTCCTGCTTCAGCCTCCCAAGTAGCTGGGATTACAGGCATGTGCCACCACGCCCGGCTAATTTTGTATTTTTAGTAGAGACAGGGTTTCTCCATGTTGGTCAGGCTGGTCTCGAACTCCTGATCTCAGGTGATCTGCCTGCTTCAGCCTCCCAAAGTGCTGGGATTACAGGGGTGAGTCACCTTGCCCGGCCCAGATTCTGCCTGTTATTCTGCATGTCTTTTAGTAGAGATGGGGTTTCACCATGTTGTCCAGGCTGGTCTGGAACACCTGACCTCAAGTGATCTGCCTGCCTCGGCCTCCCAAAGTGTTGGAATTACAGGTGTGAGCCACCGTTCCTGGCCTCAACTTTTTGACTAACATGCCTTGGAGTTCTTCCCACTTCAGAACATAAAGATCCTCTTCATTTTTGTTTTGTTTTGAGACGGAGTCTCGCCCTGTCACCTAGGTTGGAGTGCAGTGGTGCCATCTCAGCTCACTGCAACCTCTGCCTCCTGGGTTCAAGAGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGTTTACAGGCGTGCACCACCATACCCAGCTAATTTTTTTTTTTATCTTTAGTAGAGACTGGGTTTCACCATGTTGGCCAGGCTGATCTTGAACTCCTGACCTTGTGATCCACCTGTCTCAGCCTCCCAAAGTGCTGGGATTATAGGCGTGAGCCACCGTGCCCGGCCGATCCTCTTCATTTTTAGTTGCTATACAGTGCTCCATAATACGAATAATAATTTAGTCATTCCTTTATTATTTAAATGGAATTAATTGATTATGAAACAGTTCAAATTTTGACTGCTAAAATTCCCCTCCCTCCCAAGAGGCTGTAGCTAGTTTAGATAGTGAAAAAAATCTTACCTTCTAACTGGATACTTTCAGCCTTTTGGCTTCAGTTTGTTAAATAATGTGTGGCCTCTTTTGATACTGCTCCAAAGCCTTGAGATGGTCCTCTGTCACAGTCCTTGTGGCTCCCACCCTGTGTCACAAGGTGGTTTCTGATAGTGCTGTGGCCTGAGCTTGGTATCAGCCCCATTGTCCCTGTAAGCAGAGATCTGAATTTCTGTTTGAAGGTTGATAAATGCTGTGGTTTTTTTTTTTTGTTTTTTTTGTTTTTTTTTTGGTCACACTTATTCAGCTGCTGCAGTAGTTTCTATGTAGAGTGTATTTGGGTCTGTAGTAGCAGGAGTCTGTCTCAGCACTGTGTCCCTAGGTTTGCTCCTAAATCTGTTCTGTAAAGCATGCACAAATAATACACATCTGTGAGTGCACTTTCATGGTTGTTTCACGTAGTGGGGATGCCTTATTGAATGGAATTTTTGTTTCTGTTGGCTTATTAAAAAGTCTGAGTACATTCTTATTTCATTACAGATAGGTGATCTTCAGCTTTGCAAACTGGATGAACTAGATTGCTTGATCAAAGGAATTTTATACATTGACTCAGTCGGATTCAATGGACGGTCACAGTGCTATTACTTTGAAAACCCTGCTGATTCTGAAAAGTGTCAGAAGTTACCATTTGATTTGAAAAATCCGTATCCTCTGCTTCTGGTGAACATTGGCTCAGGGGTTAGCATCTTAGCAGTATATTCCAAAGATAATTACAAACGGGTCACAGGTACTAGGTAAGTTGTATATAAAACTCACTGTTTATTCTTAGTATCCTAACGGGCTGAGTTTTCAGGTATTACATGTAACTACACCTTCAAGAACCTGTTAGGTGAAAGTGTTTCTGGATTATGCAAACAAATGTTTCTCTTTGAAAATTCTGATTTTATGACCTAGTTTTCTTTAATCTCTACTGTTCAAGATTTATTATCCTAGGTGTTTCTTAAAAGATCACATCAGCAGACTCATTGTAGCCTTTGCCCTCAGATAGTTTATGGTGTGCATACACAAAGTAGCTAAAGTTATTAGGCAGCATCTGTAAGGAGAAGGCACGGGAAAGGACCTAGCTCTGAAACCTGTGTAAATTTCATGCTTCCACACACATGTGTGTGTAGAATAATGATGTATTCTATGTATGTGATTTAGAAGTTGATATGTACTGATCAGTAGAAAAATTATTGAGGGAAGGTAGTATGAAAAGAGAGGATTAGCCGGGCGTGGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCTGGGGCGGGTGGATCATGAGGTCAGGAGTTCAAGACCAGCCTGGCCAACATGGTGAAACCCCATCTCTACTAAAAATACAAAAATTAGCCGGGCGCAGTGGCAGGCGCCTGTGAATCCCAGCTACTCGGGAGGCTGAGGTGGGAGAATTGCTTGAATTCAGAGGGTGGAGGTTGCAGTAAGCCGAGATTATGCCACTGCACTCCAGCCTGGGTGACAGAGTGAGACTCCGTCTCAAAAAAAAAAGAAAAGAGAGTATTAGGGCCAGGCACGGCAGCTTATGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGTGGATCACCAGAGGTCGGGAGTTCGAGACCAGCCTGGCCAACATGGAGAAACCCCATCTCTACTAAAAATACAAAATTAGCCGGGCGTGGTGGCACATGCCTGTAATCCCATATACTTGGGAGGCTGAGGCAGAAAAATCACTTGAACCAGGAGGCAAAGGTTGCGGTGAGCCGAGATCGTGCCATTGTACTCTAGCCTGGGCAAAAAGAGCTAAACTCCATCTCAAAAAAAAAAAATGAGGATTAGATGGAAGAAGAGAATGTTTCGGCTTAAGGGTCAGAGGTCACTTCAGGAAAAACAGGCATCTAGGGATTGGGATAAACAATTTTTTTAAAAAAACAGTTGTGATTTAAATAGAGGAGTAATTTTTTTGTGACAAAACACGTTGCAGGAGGAGTATGTTTGGGGGTGTACTGATAAGCCAGGGTGACAAGGTGCTTGGATGAGAATGACTCAGGGAATGTACTTGGAGAAGGGAAAGGGAGGAGGTGTTAGCATGGCCCCAGGCGTGTCAGGCTAATTTGCACCTGAGGCTCTTCATACTTGGCAGACAGCCAGACTGCACTGGGGACATGGGCCCTGTGTTTTGTACTTTGCATGTTGGCTCACATGCATATGTACCTTAAAGGTGTATATCAGGCACCTTATCTTTTCACAGACTTGTTTCCTACCAGTGGCATTTGCATGATTGGGTTGGATATGTGAATATGGTTTTGGGGTTCATAAATGTTAACTTCTTGTTCTTATTTTTAAAAATGTTATAATACTGTGTTAATTGTTTTTAATCATAGTCTTGGAGGAGGAACTTTTTTTGGTCTCTGCTGTCTTCTTACTGGCTGTACCACTTTTGAAGAAGCTCTTGAAATGGCATCTCGTGGAGATAGCACCAAAGTGGATAAACTAGTACGAGATATTTATGGAGGGGACTATGAGAGGTTTGGACTGCCAGGCTGGGCTGTGGCTTCAAGGTAAGGGGGCATGTGTGTTCTAAGAAATACAGGCGGGCCGGGCGCGGTGGCTCATGCCT
ATAATTAAAATCATTTCATGTCATAAAATTGTTTTCAGTCTTGTCTACCACATAATTTCTCTTGTCTCCCTCAGTTGTTTGCTGGCATGTTCACTAACTGAAAAAAATAAGGAACTCTGGTCAAAAGTGGTGTTTTCAGGCTCAGGGCTGGTCTGAGATGGGTGACTGCAGAGCCCTCCTCTCCCAGAATGCTTTCTGATGTGTTCTGTGCTGCACACTTAACTGGAGTCTCGCCACCATGTCTGGCCCCTGGGGAATGCTGCCAGGCGCTCTATCTTGCTTTCATTGAGTGAACACTGGAGAACATTGTGAGCAAGACCTTGAGGCTAGGTCCTTTCAGGGTGGATGGTGGGGGTAGGCCGGAGAACTGACAAATGAATAAGCCAAGATCCTGACCGTCAGGGTGCAATACAGATTGAAAATGTCTTCAGTGACTGACTGTTTTTCTGTTGCTAAATGAGAGAATATTAGTCTGAAAGAGATTCTGCCTTTTTGTTTTGTTTTGTTTTCTTGAGATGGAGTTTTGTTCTTGTTCCCAGGCTGGAATGCAATGGCTCAACACAACCTCCACCTCTCGGGTTCAAGCGATTCTCCTGCTTCAGCCTCCCAAGTAGCTGGGATTACAGGCATGTGCCACCACGCCCGGCTAATTTTGTATTTTTAGTAGAGACAGGGTTTCTCCATGTTGGTCAGGCTGGTCTCGAACTCCTGATCTCAGGTGATCTGCCTGCTTCAGCCTCCCAAAGTGCTGGGATTACAGGGGTGAGTCACCTTGCCCGGCCCAGATTCTGCCTGTTATTCTGCATGTCTTTTAGTAGAGATGGGGTTTCACCATGTTGTCCAGGCTGGTCTGGAACACCTGACCTCAAGTGATCTGCCTGCCTCGGCCTCCCAAAGTGTTGGAATTACAGGTGTGAGCCACCGTTCCTGGCCTCAACTTTTTGACTAACATGCCTTGGAGTTCTTCCCACTTCAGAACATAAAGATCCTCTTCATTTTTGTTTTGTTTTGAGACGGAGTCTCGCCCTGTCACCTAGGTTGGAGTGCAGTGGTGCCATCTCAGCTCACTGCAACCTCTGCCTCCTGGGTTCAAGAGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGTTTACAGGCGTGCACCACCATACCCAGCTAATTTTTTTTTTTATCTTTAGTAGAGACTGGGTTTCACCATGTTGGCCAGGCTGATCTTGAACTCCTGACCTTGTGATCCACCTGTCTCAGCCTCCCAAAGTGCTGGGATTATAGGCGTGAGCCACCGTGCCCGGCCGATCCTCTTCATTTTTAGTTGCTATACAGTGCTCCATAATACGAATAATAATTTAGTCATTCCTTTATTATTTAAATGGAATTAATTGATTATGAAACAGTTCAAATTTTGACTGCTAAAATTCCCCTCCCTCCCAAGAGGCTGTAGCTAGTTTAGATAGTGAAAAAAATCTTACCTTCTAACTGGATACTTTCAGCCTTTTGGCTTCAGTTTGTTAAATAATGTGTGGCCTCTTTTGATACTGCTCCAAAGCCTTGAGATGGTCCTCTGTCACAGTCCTTGTGGCTCCCACCCTGTGTCACAAGGTGGTTTCTGATAGTGCTGTGGCCTGAGCTTGGTATCAGCCCCATTGTCCCTGTAAGCAGAGATCTGAATTTCTGTTTGAAGGTTGATAAATGCTGTGGTTTTTTTTTTTTGTTTTTTTTGTTTTTTTTTTGGTCACACTTATTCAGCTGCTGCAGTAGTTTCTATGTAGAGTGTATTTGGGTCTGTAGTAGCAGGAGTCTGTCTCAGCACTGTGTCCCTAGGTTTGCTCCTAAATCTGTTCTGTAAAGCATGCACAAATAATACACATCTGTGAGTGCACTTTCATGGTTGTTTCACGTAGTGGGGATGCCTTATTGAATGGAATTTTTGTTTCTGTTGGCTTATTAAAAAGTCTGAGTACATTCTTATTTCATTACAGATAGGTGATCTTCAGCTTTGCAAACTGGATGAACTAGATTGCTTGATCAAAGGAATTTTATACATTGACCCAGTCGGATTCAATGGACGGTCACAGTGCTATTACTTTGAAAACCCTGCTGATTCTGAAAAGTGTCAGAAGTTACCATTTGATTTGAAAAATCCGTATCCTCTGCTTCTGGTGAACATTGGCTCAGGGGTTAGCATCTTAGCAGTATATTCCAAAGATAATTACAAACGGGTCACAGGTACTAGGTAAGTTGTATATAAAACTCACTGTTTATTCTTAGTATCCTAACGGGCTGAGTTTTCAGGTATTACATGTAACTACACCTTCAAGAACCTGTTAGGTGAAAGTGTTTCTGGATTATGCAAACAAATGTTTCTCTTTGAAAATTCTGATTTTATGACCTAGTTTTCTTTAATCTCTACTGTTCAAGATTTATTATCCTAGGTGTTTCTTAAAAGATCACATCAGCAGACTCATTGTAGCCTTTGCCCTCAGATAGTTTATGGTGTGCATACACAAAGTAGCTAAAGTTATTAGGCAGCATCTGTAAGGAGAAGGCACGGGAAAGGACCTAGCTCTGAAACCTGTGTAAATTTCATGCTTCCACACACATGTGTGTGTAGAATAATGATGTATTCTATGTATGTGATTTAGAAGTTGATATGTACTGATCAGTAGAAAAATTATTGAGGGAAGGTAGTATGAAAAGAGAGGATTAGCCGGGCGTGGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCTGGGGCGGGTGGATCATGAGGTCAGGAGTTCAAGACCAGCCTGGCCAACATGGTGAAACCCCATCTCTACTAAAAATACAAAAATTAGCCGGGCGCAGTGGCAGGCGCCTGTGAATCCCAGCTACTCGGGAGGCTGAGGTGGGAGAATTGCTTGAATTCAGAGGGTGGAGGTTGCAGTAAGCCGAGATTATGCCACTGCACTCCAGCCTGGGTGACAGAGTGAGACTCCGTCTCAAAAAAAAAAGAAAAGAGAGTATTAGGGCCAGGCACGGCAGCTTATGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGTGGATCACCAGAGGTCGGGAGTTCGAGACCAGCCTGGCCAACATGGAGAAACCCCATCTCTACTAAAAATACAAAATTAGCCGGGCGTGGTGGCACATGCCTGTAATCCCATATACTTGGGAGGCTGAGGCAGAAAAATCACTTGAACCAGGAGGCAAAGGTTGCGGTGAGCCGAGATCGTGCCATTGTACTCTAGCCTGGGCAAAAAGAGCTAAACTCCATCTCAAAAAAAAAAAATGAGGATTAGATGGAAGAAGAGAATGTTTCGGCTTAAGGGTCAGAGGTCACTTCAGGAAAAACAGGCATCTAGGGATTGGGATAAACAATTTTTTTAAAAAAACAGTTGTGATTTAAATAGAGGAGTAATTTTTTTGTGACAAAACACGTTGCAGGAGGAGTATGTTTGGGGGTGTACTGATAAGCCAGGGTGACAAGGTGCTTGGATGAGAATGACTCAGGGAATGTACTTGGAGAAGGGAAAGGGAGGAGGTGTTAGCATGGCCCCAGGCGTGTCAGGCTAATTTGCACCTGAGGCTCTTCATACTTGGCAGACAGCCAGACTGCACTGGGGACATGGGCCCTGTGTTTTGTACTTTGCATGTTGGCTCACATGCATATGTACCTTAAAGGTGTATATCAGGCACCTTATCTTTTCACAGACTTGTTTCCTACCAGTGGCATTTGCATGATTGGGTTGGATATGTGAATATGGTTTTGGGGTTCATAAATGTTAACTTCTTGTTCTTATTTTTAAAAATGTTATAATACTGTGTTAATTGTTTTTAATCATAGTCTTGGAGGAGGAACTTTTTTTGGTCTCTGCTGTCTTCTTACTGGCTGTACCACTTTTGAAGAAGCTCTTGAAATGGCATCTCGTGGAGATAGCACCAAAGTGGATAAACTAGTACGAGATATTTATGGAGGGGACTATGAGAGGTTTGGACTGCCAGGCTGGGCTGTGGCTTCAAGGTAAGGGGGCATGTGTGTTCTAAGAAATACAGGCGGGCCGGGCGCGGTGGCTCATGCCT
Task1_train_27660
A variant has been detected on Chromosome 20 in PANK2 (pantothenate kinase 2). What is its effect — pathogenic or benign? If pathogenic, name the disease.
Pathogenic; Neurodegeneration
TGTCATAAAATTGTTTTCAGTCTTGTCTACCACATAATTTCTCTTGTCTCCCTCAGTTGTTTGCTGGCATGTTCACTAACTGAAAAAAATAAGGAACTCTGGTCAAAAGTGGTGTTTTCAGGCTCAGGGCTGGTCTGAGATGGGTGACTGCAGAGCCCTCCTCTCCCAGAATGCTTTCTGATGTGTTCTGTGCTGCACACTTAACTGGAGTCTCGCCACCATGTCTGGCCCCTGGGGAATGCTGCCAGGCGCTCTATCTTGCTTTCATTGAGTGAACACTGGAGAACATTGTGAGCAAGACCTTGAGGCTAGGTCCTTTCAGGGTGGATGGTGGGGGTAGGCCGGAGAACTGACAAATGAATAAGCCAAGATCCTGACCGTCAGGGTGCAATACAGATTGAAAATGTCTTCAGTGACTGACTGTTTTTCTGTTGCTAAATGAGAGAATATTAGTCTGAAAGAGATTCTGCCTTTTTGTTTTGTTTTGTTTTCTTGAGATGGAGTTTTGTTCTTGTTCCCAGGCTGGAATGCAATGGCTCAACACAACCTCCACCTCTCGGGTTCAAGCGATTCTCCTGCTTCAGCCTCCCAAGTAGCTGGGATTACAGGCATGTGCCACCACGCCCGGCTAATTTTGTATTTTTAGTAGAGACAGGGTTTCTCCATGTTGGTCAGGCTGGTCTCGAACTCCTGATCTCAGGTGATCTGCCTGCTTCAGCCTCCCAAAGTGCTGGGATTACAGGGGTGAGTCACCTTGCCCGGCCCAGATTCTGCCTGTTATTCTGCATGTCTTTTAGTAGAGATGGGGTTTCACCATGTTGTCCAGGCTGGTCTGGAACACCTGACCTCAAGTGATCTGCCTGCCTCGGCCTCCCAAAGTGTTGGAATTACAGGTGTGAGCCACCGTTCCTGGCCTCAACTTTTTGACTAACATGCCTTGGAGTTCTTCCCACTTCAGAACATAAAGATCCTCTTCATTTTTGTTTTGTTTTGAGACGGAGTCTCGCCCTGTCACCTAGGTTGGAGTGCAGTGGTGCCATCTCAGCTCACTGCAACCTCTGCCTCCTGGGTTCAAGAGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGTTTACAGGCGTGCACCACCATACCCAGCTAATTTTTTTTTTTATCTTTAGTAGAGACTGGGTTTCACCATGTTGGCCAGGCTGATCTTGAACTCCTGACCTTGTGATCCACCTGTCTCAGCCTCCCAAAGTGCTGGGATTATAGGCGTGAGCCACCGTGCCCGGCCGATCCTCTTCATTTTTAGTTGCTATACAGTGCTCCATAATACGAATAATAATTTAGTCATTCCTTTATTATTTAAATGGAATTAATTGATTATGAAACAGTTCAAATTTTGACTGCTAAAATTCCCCTCCCTCCCAAGAGGCTGTAGCTAGTTTAGATAGTGAAAAAAATCTTACCTTCTAACTGGATACTTTCAGCCTTTTGGCTTCAGTTTGTTAAATAATGTGTGGCCTCTTTTGATACTGCTCCAAAGCCTTGAGATGGTCCTCTGTCACAGTCCTTGTGGCTCCCACCCTGTGTCACAAGGTGGTTTCTGATAGTGCTGTGGCCTGAGCTTGGTATCAGCCCCATTGTCCCTGTAAGCAGAGATCTGAATTTCTGTTTGAAGGTTGATAAATGCTGTGGTTTTTTTTTTTTGTTTTTTTTGTTTTTTTTTTGGTCACACTTATTCAGCTGCTGCAGTAGTTTCTATGTAGAGTGTATTTGGGTCTGTAGTAGCAGGAGTCTGTCTCAGCACTGTGTCCCTAGGTTTGCTCCTAAATCTGTTCTGTAAAGCATGCACAAATAATACACATCTGTGAGTGCACTTTCATGGTTGTTTCACGTAGTGGGGATGCCTTATTGAATGGAATTTTTGTTTCTGTTGGCTTATTAAAAAGTCTGAGTACATTCTTATTTCATTACAGATAGGTGATCTTCAGCTTTGCAAACTGGATGAACTAGATTGCTTGATCAAAGGAATTTTATACATTGACTCAGTCGGATTCAATGGACGGTCACAGTGCTATTACTTTGAAAACCCTGCTGATTCTGAAAAGTGTCAGAAGTTACCATTTGATTTGAAAAATCCGTATCCTCTGCTTCTGGTGAACATTGGCTCAGGGGTTAGCATCTTAGCAGTATATTCCAAAGATAATTACAAACGGGTCACAGGTACTAGGTAAGTTGTATATAAAACTCACTGTTTATTCTTAGTATCCTAACGGGCTGAGTTTTCAGGTATTACATGTAACTACACCTTCAAGAACCTGTTAGGTGAAAGTGTTTCTGGATTATGCAAACAAATGTTTCTCTTTGAAAATTCTGATTTTATGACCTAGTTTTCTTTAATCTCTACTGTTCAAGATTTATTATCCTAGGTGTTTCTTAAAAGATCACATCAGCAGACTCATTGTAGCCTTTGCCCTCAGATAGTTTATGGTGTGCATACACAAAGTAGCTAAAGTTATTAGGCAGCATCTGTAAGGAGAAGGCACGGGAAAGGACCTAGCTCTGAAACCTGTGTAAATTTCATGCTTCCACACACATGTGTGTGTAGAATAATGATGTATTCTATGTATGTGATTTAGAAGTTGATATGTACTGATCAGTAGAAAAATTATTGAGGGAAGGTAGTATGAAAAGAGAGGATTAGCCGGGCGTGGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCTGGGGCGGGTGGATCATGAGGTCAGGAGTTCAAGACCAGCCTGGCCAACATGGTGAAACCCCATCTCTACTAAAAATACAAAAATTAGCCGGGCGCAGTGGCAGGCGCCTGTGAATCCCAGCTACTCGGGAGGCTGAGGTGGGAGAATTGCTTGAATTCAGAGGGTGGAGGTTGCAGTAAGCCGAGATTATGCCACTGCACTCCAGCCTGGGTGACAGAGTGAGACTCCGTCTCAAAAAAAAAAGAAAAGAGAGTATTAGGGCCAGGCACGGCAGCTTATGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGTGGATCACCAGAGGTCGGGAGTTCGAGACCAGCCTGGCCAACATGGAGAAACCCCATCTCTACTAAAAATACAAAATTAGCCGGGCGTGGTGGCACATGCCTGTAATCCCATATACTTGGGAGGCTGAGGCAGAAAAATCACTTGAACCAGGAGGCAAAGGTTGCGGTGAGCCGAGATCGTGCCATTGTACTCTAGCCTGGGCAAAAAGAGCTAAACTCCATCTCAAAAAAAAAAAATGAGGATTAGATGGAAGAAGAGAATGTTTCGGCTTAAGGGTCAGAGGTCACTTCAGGAAAAACAGGCATCTAGGGATTGGGATAAACAATTTTTTTAAAAAAACAGTTGTGATTTAAATAGAGGAGTAATTTTTTTGTGACAAAACACGTTGCAGGAGGAGTATGTTTGGGGGTGTACTGATAAGCCAGGGTGACAAGGTGCTTGGATGAGAATGACTCAGGGAATGTACTTGGAGAAGGGAAAGGGAGGAGGTGTTAGCATGGCCCCAGGCGTGTCAGGCTAATTTGCACCTGAGGCTCTTCATACTTGGCAGACAGCCAGACTGCACTGGGGACATGGGCCCTGTGTTTTGTACTTTGCATGTTGGCTCACATGCATATGTACCTTAAAGGTGTATATCAGGCACCTTATCTTTTCACAGACTTGTTTCCTACCAGTGGCATTTGCATGATTGGGTTGGATATGTGAATATGGTTTTGGGGTTCATAAATGTTAACTTCTTGTTCTTATTTTTAAAAATGTTATAATACTGTGTTAATTGTTTTTAATCATAGTCTTGGAGGAGGAACTTTTTTTGGTCTCTGCTGTCTTCTTACTGGCTGTACCACTTTTGAAGAAGCTCTTGAAATGGCATCTCGTGGAGATAGCACCAAAGTGGATAAACTAGTACGAGATATTTATGGAGGGGACTATGAGAGGTTTGGACTGCCAGGCTGGGCTGTGGCTTCAAGGTAAGGGGGCATGTGTGTTCTAAGAAATACAGGCGGGCCGGGCGCGGTGGCTCATGCCTTTAATCCCAAAACTTTGA
TGTCATAAAATTGTTTTCAGTCTTGTCTACCACATAATTTCTCTTGTCTCCCTCAGTTGTTTGCTGGCATGTTCACTAACTGAAAAAAATAAGGAACTCTGGTCAAAAGTGGTGTTTTCAGGCTCAGGGCTGGTCTGAGATGGGTGACTGCAGAGCCCTCCTCTCCCAGAATGCTTTCTGATGTGTTCTGTGCTGCACACTTAACTGGAGTCTCGCCACCATGTCTGGCCCCTGGGGAATGCTGCCAGGCGCTCTATCTTGCTTTCATTGAGTGAACACTGGAGAACATTGTGAGCAAGACCTTGAGGCTAGGTCCTTTCAGGGTGGATGGTGGGGGTAGGCCGGAGAACTGACAAATGAATAAGCCAAGATCCTGACCGTCAGGGTGCAATACAGATTGAAAATGTCTTCAGTGACTGACTGTTTTTCTGTTGCTAAATGAGAGAATATTAGTCTGAAAGAGATTCTGCCTTTTTGTTTTGTTTTGTTTTCTTGAGATGGAGTTTTGTTCTTGTTCCCAGGCTGGAATGCAATGGCTCAACACAACCTCCACCTCTCGGGTTCAAGCGATTCTCCTGCTTCAGCCTCCCAAGTAGCTGGGATTACAGGCATGTGCCACCACGCCCGGCTAATTTTGTATTTTTAGTAGAGACAGGGTTTCTCCATGTTGGTCAGGCTGGTCTCGAACTCCTGATCTCAGGTGATCTGCCTGCTTCAGCCTCCCAAAGTGCTGGGATTACAGGGGTGAGTCACCTTGCCCGGCCCAGATTCTGCCTGTTATTCTGCATGTCTTTTAGTAGAGATGGGGTTTCACCATGTTGTCCAGGCTGGTCTGGAACACCTGACCTCAAGTGATCTGCCTGCCTCGGCCTCCCAAAGTGTTGGAATTACAGGTGTGAGCCACCGTTCCTGGCCTCAACTTTTTGACTAACATGCCTTGGAGTTCTTCCCACTTCAGAACATAAAGATCCTCTTCATTTTTGTTTTGTTTTGAGACGGAGTCTCGCCCTGTCACCTAGGTTGGAGTGCAGTGGTGCCATCTCAGCTCACTGCAACCTCTGCCTCCTGGGTTCAAGAGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGTTTACAGGCGTGCACCACCATACCCAGCTAATTTTTTTTTTTATCTTTAGTAGAGACTGGGTTTCACCATGTTGGCCAGGCTGATCTTGAACTCCTGACCTTGTGATCCACCTGTCTCAGCCTCCCAAAGTGCTGGGATTATAGGCGTGAGCCACCGTGCCCGGCCGATCCTCTTCATTTTTAGTTGCTATACAGTGCTCCATAATACGAATAATAATTTAGTCATTCCTTTATTATTTAAATGGAATTAATTGATTATGAAACAGTTCAAATTTTGACTGCTAAAATTCCCCTCCCTCCCAAGAGGCTGTAGCTAGTTTAGATAGTGAAAAAAATCTTACCTTCTAACTGGATACTTTCAGCCTTTTGGCTTCAGTTTGTTAAATAATGTGTGGCCTCTTTTGATACTGCTCCAAAGCCTTGAGATGGTCCTCTGTCACAGTCCTTGTGGCTCCCACCCTGTGTCACAAGGTGGTTTCTGATAGTGCTGTGGCCTGAGCTTGGTATCAGCCCCATTGTCCCTGTAAGCAGAGATCTGAATTTCTGTTTGAAGGTTGATAAATGCTGTGGTTTTTTTTTTTTGTTTTTTTTGTTTTTTTTTTGGTCACACTTATTCAGCTGCTGCAGTAGTTTCTATGTAGAGTGTATTTGGGTCTGTAGTAGCAGGAGTCTGTCTCAGCACTGTGTCCCTAGGTTTGCTCCTAAATCTGTTCTGTAAAGCATGCACAAATAATACACATCTGTGAGTGCACTTTCATGGTTGTTTCACGTAGTGGGGATGCCTTATTGAATGGAATTTTTGTTTCTGTTGGCTTATTAAAAAGTCTGAGTACATTCTTATTTCATTACAGATAGGTGATCTTCAGCTTTGCAAACTGGATGAACTAGATTGCTTGATCAAAGGAATTTTATACATTGACTCAGTCGGATTCAATGGATGGTCACAGTGCTATTACTTTGAAAACCCTGCTGATTCTGAAAAGTGTCAGAAGTTACCATTTGATTTGAAAAATCCGTATCCTCTGCTTCTGGTGAACATTGGCTCAGGGGTTAGCATCTTAGCAGTATATTCCAAAGATAATTACAAACGGGTCACAGGTACTAGGTAAGTTGTATATAAAACTCACTGTTTATTCTTAGTATCCTAACGGGCTGAGTTTTCAGGTATTACATGTAACTACACCTTCAAGAACCTGTTAGGTGAAAGTGTTTCTGGATTATGCAAACAAATGTTTCTCTTTGAAAATTCTGATTTTATGACCTAGTTTTCTTTAATCTCTACTGTTCAAGATTTATTATCCTAGGTGTTTCTTAAAAGATCACATCAGCAGACTCATTGTAGCCTTTGCCCTCAGATAGTTTATGGTGTGCATACACAAAGTAGCTAAAGTTATTAGGCAGCATCTGTAAGGAGAAGGCACGGGAAAGGACCTAGCTCTGAAACCTGTGTAAATTTCATGCTTCCACACACATGTGTGTGTAGAATAATGATGTATTCTATGTATGTGATTTAGAAGTTGATATGTACTGATCAGTAGAAAAATTATTGAGGGAAGGTAGTATGAAAAGAGAGGATTAGCCGGGCGTGGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCTGGGGCGGGTGGATCATGAGGTCAGGAGTTCAAGACCAGCCTGGCCAACATGGTGAAACCCCATCTCTACTAAAAATACAAAAATTAGCCGGGCGCAGTGGCAGGCGCCTGTGAATCCCAGCTACTCGGGAGGCTGAGGTGGGAGAATTGCTTGAATTCAGAGGGTGGAGGTTGCAGTAAGCCGAGATTATGCCACTGCACTCCAGCCTGGGTGACAGAGTGAGACTCCGTCTCAAAAAAAAAAGAAAAGAGAGTATTAGGGCCAGGCACGGCAGCTTATGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGTGGATCACCAGAGGTCGGGAGTTCGAGACCAGCCTGGCCAACATGGAGAAACCCCATCTCTACTAAAAATACAAAATTAGCCGGGCGTGGTGGCACATGCCTGTAATCCCATATACTTGGGAGGCTGAGGCAGAAAAATCACTTGAACCAGGAGGCAAAGGTTGCGGTGAGCCGAGATCGTGCCATTGTACTCTAGCCTGGGCAAAAAGAGCTAAACTCCATCTCAAAAAAAAAAAATGAGGATTAGATGGAAGAAGAGAATGTTTCGGCTTAAGGGTCAGAGGTCACTTCAGGAAAAACAGGCATCTAGGGATTGGGATAAACAATTTTTTTAAAAAAACAGTTGTGATTTAAATAGAGGAGTAATTTTTTTGTGACAAAACACGTTGCAGGAGGAGTATGTTTGGGGGTGTACTGATAAGCCAGGGTGACAAGGTGCTTGGATGAGAATGACTCAGGGAATGTACTTGGAGAAGGGAAAGGGAGGAGGTGTTAGCATGGCCCCAGGCGTGTCAGGCTAATTTGCACCTGAGGCTCTTCATACTTGGCAGACAGCCAGACTGCACTGGGGACATGGGCCCTGTGTTTTGTACTTTGCATGTTGGCTCACATGCATATGTACCTTAAAGGTGTATATCAGGCACCTTATCTTTTCACAGACTTGTTTCCTACCAGTGGCATTTGCATGATTGGGTTGGATATGTGAATATGGTTTTGGGGTTCATAAATGTTAACTTCTTGTTCTTATTTTTAAAAATGTTATAATACTGTGTTAATTGTTTTTAATCATAGTCTTGGAGGAGGAACTTTTTTTGGTCTCTGCTGTCTTCTTACTGGCTGTACCACTTTTGAAGAAGCTCTTGAAATGGCATCTCGTGGAGATAGCACCAAAGTGGATAAACTAGTACGAGATATTTATGGAGGGGACTATGAGAGGTTTGGACTGCCAGGCTGGGCTGTGGCTTCAAGGTAAGGGGGCATGTGTGTTCTAAGAAATACAGGCGGGCCGGGCGCGGTGGCTCATGCCTTTAATCCCAAAACTTTGA
Task1_train_27661
A genomic change on Chromosome 20 affects PANK2 (pantothenate kinase 2). Classify this variant as benign or pathogenic, and name the disease if relevant.
Pathogenic; Pigmentary pallidal degeneration
TGTCATAAAATTGTTTTCAGTCTTGTCTACCACATAATTTCTCTTGTCTCCCTCAGTTGTTTGCTGGCATGTTCACTAACTGAAAAAAATAAGGAACTCTGGTCAAAAGTGGTGTTTTCAGGCTCAGGGCTGGTCTGAGATGGGTGACTGCAGAGCCCTCCTCTCCCAGAATGCTTTCTGATGTGTTCTGTGCTGCACACTTAACTGGAGTCTCGCCACCATGTCTGGCCCCTGGGGAATGCTGCCAGGCGCTCTATCTTGCTTTCATTGAGTGAACACTGGAGAACATTGTGAGCAAGACCTTGAGGCTAGGTCCTTTCAGGGTGGATGGTGGGGGTAGGCCGGAGAACTGACAAATGAATAAGCCAAGATCCTGACCGTCAGGGTGCAATACAGATTGAAAATGTCTTCAGTGACTGACTGTTTTTCTGTTGCTAAATGAGAGAATATTAGTCTGAAAGAGATTCTGCCTTTTTGTTTTGTTTTGTTTTCTTGAGATGGAGTTTTGTTCTTGTTCCCAGGCTGGAATGCAATGGCTCAACACAACCTCCACCTCTCGGGTTCAAGCGATTCTCCTGCTTCAGCCTCCCAAGTAGCTGGGATTACAGGCATGTGCCACCACGCCCGGCTAATTTTGTATTTTTAGTAGAGACAGGGTTTCTCCATGTTGGTCAGGCTGGTCTCGAACTCCTGATCTCAGGTGATCTGCCTGCTTCAGCCTCCCAAAGTGCTGGGATTACAGGGGTGAGTCACCTTGCCCGGCCCAGATTCTGCCTGTTATTCTGCATGTCTTTTAGTAGAGATGGGGTTTCACCATGTTGTCCAGGCTGGTCTGGAACACCTGACCTCAAGTGATCTGCCTGCCTCGGCCTCCCAAAGTGTTGGAATTACAGGTGTGAGCCACCGTTCCTGGCCTCAACTTTTTGACTAACATGCCTTGGAGTTCTTCCCACTTCAGAACATAAAGATCCTCTTCATTTTTGTTTTGTTTTGAGACGGAGTCTCGCCCTGTCACCTAGGTTGGAGTGCAGTGGTGCCATCTCAGCTCACTGCAACCTCTGCCTCCTGGGTTCAAGAGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGTTTACAGGCGTGCACCACCATACCCAGCTAATTTTTTTTTTTATCTTTAGTAGAGACTGGGTTTCACCATGTTGGCCAGGCTGATCTTGAACTCCTGACCTTGTGATCCACCTGTCTCAGCCTCCCAAAGTGCTGGGATTATAGGCGTGAGCCACCGTGCCCGGCCGATCCTCTTCATTTTTAGTTGCTATACAGTGCTCCATAATACGAATAATAATTTAGTCATTCCTTTATTATTTAAATGGAATTAATTGATTATGAAACAGTTCAAATTTTGACTGCTAAAATTCCCCTCCCTCCCAAGAGGCTGTAGCTAGTTTAGATAGTGAAAAAAATCTTACCTTCTAACTGGATACTTTCAGCCTTTTGGCTTCAGTTTGTTAAATAATGTGTGGCCTCTTTTGATACTGCTCCAAAGCCTTGAGATGGTCCTCTGTCACAGTCCTTGTGGCTCCCACCCTGTGTCACAAGGTGGTTTCTGATAGTGCTGTGGCCTGAGCTTGGTATCAGCCCCATTGTCCCTGTAAGCAGAGATCTGAATTTCTGTTTGAAGGTTGATAAATGCTGTGGTTTTTTTTTTTTGTTTTTTTTGTTTTTTTTTTGGTCACACTTATTCAGCTGCTGCAGTAGTTTCTATGTAGAGTGTATTTGGGTCTGTAGTAGCAGGAGTCTGTCTCAGCACTGTGTCCCTAGGTTTGCTCCTAAATCTGTTCTGTAAAGCATGCACAAATAATACACATCTGTGAGTGCACTTTCATGGTTGTTTCACGTAGTGGGGATGCCTTATTGAATGGAATTTTTGTTTCTGTTGGCTTATTAAAAAGTCTGAGTACATTCTTATTTCATTACAGATAGGTGATCTTCAGCTTTGCAAACTGGATGAACTAGATTGCTTGATCAAAGGAATTTTATACATTGACTCAGTCGGATTCAATGGACGGTCACAGTGCTATTACTTTGAAAACCCTGCTGATTCTGAAAAGTGTCAGAAGTTACCATTTGATTTGAAAAATCCGTATCCTCTGCTTCTGGTGAACATTGGCTCAGGGGTTAGCATCTTAGCAGTATATTCCAAAGATAATTACAAACGGGTCACAGGTACTAGGTAAGTTGTATATAAAACTCACTGTTTATTCTTAGTATCCTAACGGGCTGAGTTTTCAGGTATTACATGTAACTACACCTTCAAGAACCTGTTAGGTGAAAGTGTTTCTGGATTATGCAAACAAATGTTTCTCTTTGAAAATTCTGATTTTATGACCTAGTTTTCTTTAATCTCTACTGTTCAAGATTTATTATCCTAGGTGTTTCTTAAAAGATCACATCAGCAGACTCATTGTAGCCTTTGCCCTCAGATAGTTTATGGTGTGCATACACAAAGTAGCTAAAGTTATTAGGCAGCATCTGTAAGGAGAAGGCACGGGAAAGGACCTAGCTCTGAAACCTGTGTAAATTTCATGCTTCCACACACATGTGTGTGTAGAATAATGATGTATTCTATGTATGTGATTTAGAAGTTGATATGTACTGATCAGTAGAAAAATTATTGAGGGAAGGTAGTATGAAAAGAGAGGATTAGCCGGGCGTGGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCTGGGGCGGGTGGATCATGAGGTCAGGAGTTCAAGACCAGCCTGGCCAACATGGTGAAACCCCATCTCTACTAAAAATACAAAAATTAGCCGGGCGCAGTGGCAGGCGCCTGTGAATCCCAGCTACTCGGGAGGCTGAGGTGGGAGAATTGCTTGAATTCAGAGGGTGGAGGTTGCAGTAAGCCGAGATTATGCCACTGCACTCCAGCCTGGGTGACAGAGTGAGACTCCGTCTCAAAAAAAAAAGAAAAGAGAGTATTAGGGCCAGGCACGGCAGCTTATGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGTGGATCACCAGAGGTCGGGAGTTCGAGACCAGCCTGGCCAACATGGAGAAACCCCATCTCTACTAAAAATACAAAATTAGCCGGGCGTGGTGGCACATGCCTGTAATCCCATATACTTGGGAGGCTGAGGCAGAAAAATCACTTGAACCAGGAGGCAAAGGTTGCGGTGAGCCGAGATCGTGCCATTGTACTCTAGCCTGGGCAAAAAGAGCTAAACTCCATCTCAAAAAAAAAAAATGAGGATTAGATGGAAGAAGAGAATGTTTCGGCTTAAGGGTCAGAGGTCACTTCAGGAAAAACAGGCATCTAGGGATTGGGATAAACAATTTTTTTAAAAAAACAGTTGTGATTTAAATAGAGGAGTAATTTTTTTGTGACAAAACACGTTGCAGGAGGAGTATGTTTGGGGGTGTACTGATAAGCCAGGGTGACAAGGTGCTTGGATGAGAATGACTCAGGGAATGTACTTGGAGAAGGGAAAGGGAGGAGGTGTTAGCATGGCCCCAGGCGTGTCAGGCTAATTTGCACCTGAGGCTCTTCATACTTGGCAGACAGCCAGACTGCACTGGGGACATGGGCCCTGTGTTTTGTACTTTGCATGTTGGCTCACATGCATATGTACCTTAAAGGTGTATATCAGGCACCTTATCTTTTCACAGACTTGTTTCCTACCAGTGGCATTTGCATGATTGGGTTGGATATGTGAATATGGTTTTGGGGTTCATAAATGTTAACTTCTTGTTCTTATTTTTAAAAATGTTATAATACTGTGTTAATTGTTTTTAATCATAGTCTTGGAGGAGGAACTTTTTTTGGTCTCTGCTGTCTTCTTACTGGCTGTACCACTTTTGAAGAAGCTCTTGAAATGGCATCTCGTGGAGATAGCACCAAAGTGGATAAACTAGTACGAGATATTTATGGAGGGGACTATGAGAGGTTTGGACTGCCAGGCTGGGCTGTGGCTTCAAGGTAAGGGGGCATGTGTGTTCTAAGAAATACAGGCGGGCCGGGCGCGGTGGCTCATGCCTTTAATCCCAAAACTTTGA
TGTCATAAAATTGTTTTCAGTCTTGTCTACCACATAATTTCTCTTGTCTCCCTCAGTTGTTTGCTGGCATGTTCACTAACTGAAAAAAATAAGGAACTCTGGTCAAAAGTGGTGTTTTCAGGCTCAGGGCTGGTCTGAGATGGGTGACTGCAGAGCCCTCCTCTCCCAGAATGCTTTCTGATGTGTTCTGTGCTGCACACTTAACTGGAGTCTCGCCACCATGTCTGGCCCCTGGGGAATGCTGCCAGGCGCTCTATCTTGCTTTCATTGAGTGAACACTGGAGAACATTGTGAGCAAGACCTTGAGGCTAGGTCCTTTCAGGGTGGATGGTGGGGGTAGGCCGGAGAACTGACAAATGAATAAGCCAAGATCCTGACCGTCAGGGTGCAATACAGATTGAAAATGTCTTCAGTGACTGACTGTTTTTCTGTTGCTAAATGAGAGAATATTAGTCTGAAAGAGATTCTGCCTTTTTGTTTTGTTTTGTTTTCTTGAGATGGAGTTTTGTTCTTGTTCCCAGGCTGGAATGCAATGGCTCAACACAACCTCCACCTCTCGGGTTCAAGCGATTCTCCTGCTTCAGCCTCCCAAGTAGCTGGGATTACAGGCATGTGCCACCACGCCCGGCTAATTTTGTATTTTTAGTAGAGACAGGGTTTCTCCATGTTGGTCAGGCTGGTCTCGAACTCCTGATCTCAGGTGATCTGCCTGCTTCAGCCTCCCAAAGTGCTGGGATTACAGGGGTGAGTCACCTTGCCCGGCCCAGATTCTGCCTGTTATTCTGCATGTCTTTTAGTAGAGATGGGGTTTCACCATGTTGTCCAGGCTGGTCTGGAACACCTGACCTCAAGTGATCTGCCTGCCTCGGCCTCCCAAAGTGTTGGAATTACAGGTGTGAGCCACCGTTCCTGGCCTCAACTTTTTGACTAACATGCCTTGGAGTTCTTCCCACTTCAGAACATAAAGATCCTCTTCATTTTTGTTTTGTTTTGAGACGGAGTCTCGCCCTGTCACCTAGGTTGGAGTGCAGTGGTGCCATCTCAGCTCACTGCAACCTCTGCCTCCTGGGTTCAAGAGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGTTTACAGGCGTGCACCACCATACCCAGCTAATTTTTTTTTTTATCTTTAGTAGAGACTGGGTTTCACCATGTTGGCCAGGCTGATCTTGAACTCCTGACCTTGTGATCCACCTGTCTCAGCCTCCCAAAGTGCTGGGATTATAGGCGTGAGCCACCGTGCCCGGCCGATCCTCTTCATTTTTAGTTGCTATACAGTGCTCCATAATACGAATAATAATTTAGTCATTCCTTTATTATTTAAATGGAATTAATTGATTATGAAACAGTTCAAATTTTGACTGCTAAAATTCCCCTCCCTCCCAAGAGGCTGTAGCTAGTTTAGATAGTGAAAAAAATCTTACCTTCTAACTGGATACTTTCAGCCTTTTGGCTTCAGTTTGTTAAATAATGTGTGGCCTCTTTTGATACTGCTCCAAAGCCTTGAGATGGTCCTCTGTCACAGTCCTTGTGGCTCCCACCCTGTGTCACAAGGTGGTTTCTGATAGTGCTGTGGCCTGAGCTTGGTATCAGCCCCATTGTCCCTGTAAGCAGAGATCTGAATTTCTGTTTGAAGGTTGATAAATGCTGTGGTTTTTTTTTTTTGTTTTTTTTGTTTTTTTTTTGGTCACACTTATTCAGCTGCTGCAGTAGTTTCTATGTAGAGTGTATTTGGGTCTGTAGTAGCAGGAGTCTGTCTCAGCACTGTGTCCCTAGGTTTGCTCCTAAATCTGTTCTGTAAAGCATGCACAAATAATACACATCTGTGAGTGCACTTTCATGGTTGTTTCACGTAGTGGGGATGCCTTATTGAATGGAATTTTTGTTTCTGTTGGCTTATTAAAAAGTCTGAGTACATTCTTATTTCATTACAGATAGGTGATCTTCAGCTTTGCAAACTGGATGAACTAGATTGCTTGATCAAAGGAATTTTATACATTGACTCAGTCGGATTCAATGGATGGTCACAGTGCTATTACTTTGAAAACCCTGCTGATTCTGAAAAGTGTCAGAAGTTACCATTTGATTTGAAAAATCCGTATCCTCTGCTTCTGGTGAACATTGGCTCAGGGGTTAGCATCTTAGCAGTATATTCCAAAGATAATTACAAACGGGTCACAGGTACTAGGTAAGTTGTATATAAAACTCACTGTTTATTCTTAGTATCCTAACGGGCTGAGTTTTCAGGTATTACATGTAACTACACCTTCAAGAACCTGTTAGGTGAAAGTGTTTCTGGATTATGCAAACAAATGTTTCTCTTTGAAAATTCTGATTTTATGACCTAGTTTTCTTTAATCTCTACTGTTCAAGATTTATTATCCTAGGTGTTTCTTAAAAGATCACATCAGCAGACTCATTGTAGCCTTTGCCCTCAGATAGTTTATGGTGTGCATACACAAAGTAGCTAAAGTTATTAGGCAGCATCTGTAAGGAGAAGGCACGGGAAAGGACCTAGCTCTGAAACCTGTGTAAATTTCATGCTTCCACACACATGTGTGTGTAGAATAATGATGTATTCTATGTATGTGATTTAGAAGTTGATATGTACTGATCAGTAGAAAAATTATTGAGGGAAGGTAGTATGAAAAGAGAGGATTAGCCGGGCGTGGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCTGGGGCGGGTGGATCATGAGGTCAGGAGTTCAAGACCAGCCTGGCCAACATGGTGAAACCCCATCTCTACTAAAAATACAAAAATTAGCCGGGCGCAGTGGCAGGCGCCTGTGAATCCCAGCTACTCGGGAGGCTGAGGTGGGAGAATTGCTTGAATTCAGAGGGTGGAGGTTGCAGTAAGCCGAGATTATGCCACTGCACTCCAGCCTGGGTGACAGAGTGAGACTCCGTCTCAAAAAAAAAAGAAAAGAGAGTATTAGGGCCAGGCACGGCAGCTTATGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGTGGATCACCAGAGGTCGGGAGTTCGAGACCAGCCTGGCCAACATGGAGAAACCCCATCTCTACTAAAAATACAAAATTAGCCGGGCGTGGTGGCACATGCCTGTAATCCCATATACTTGGGAGGCTGAGGCAGAAAAATCACTTGAACCAGGAGGCAAAGGTTGCGGTGAGCCGAGATCGTGCCATTGTACTCTAGCCTGGGCAAAAAGAGCTAAACTCCATCTCAAAAAAAAAAAATGAGGATTAGATGGAAGAAGAGAATGTTTCGGCTTAAGGGTCAGAGGTCACTTCAGGAAAAACAGGCATCTAGGGATTGGGATAAACAATTTTTTTAAAAAAACAGTTGTGATTTAAATAGAGGAGTAATTTTTTTGTGACAAAACACGTTGCAGGAGGAGTATGTTTGGGGGTGTACTGATAAGCCAGGGTGACAAGGTGCTTGGATGAGAATGACTCAGGGAATGTACTTGGAGAAGGGAAAGGGAGGAGGTGTTAGCATGGCCCCAGGCGTGTCAGGCTAATTTGCACCTGAGGCTCTTCATACTTGGCAGACAGCCAGACTGCACTGGGGACATGGGCCCTGTGTTTTGTACTTTGCATGTTGGCTCACATGCATATGTACCTTAAAGGTGTATATCAGGCACCTTATCTTTTCACAGACTTGTTTCCTACCAGTGGCATTTGCATGATTGGGTTGGATATGTGAATATGGTTTTGGGGTTCATAAATGTTAACTTCTTGTTCTTATTTTTAAAAATGTTATAATACTGTGTTAATTGTTTTTAATCATAGTCTTGGAGGAGGAACTTTTTTTGGTCTCTGCTGTCTTCTTACTGGCTGTACCACTTTTGAAGAAGCTCTTGAAATGGCATCTCGTGGAGATAGCACCAAAGTGGATAAACTAGTACGAGATATTTATGGAGGGGACTATGAGAGGTTTGGACTGCCAGGCTGGGCTGTGGCTTCAAGGTAAGGGGGCATGTGTGTTCTAAGAAATACAGGCGGGCCGGGCGCGGTGGCTCATGCCTTTAATCCCAAAACTTTGA
Task1_train_27662
The following genetic variant occurs in PANK2 (pantothenate kinase 2) on Chromosome 20. Classify its clinical effect — pathogenic or benign — and list any associated condition.
Pathogenic; Hypoprebetalipoproteinemia, acanthocytosis, retinitis pigmentosa, and pallidal degeneration
TGTCATAAAATTGTTTTCAGTCTTGTCTACCACATAATTTCTCTTGTCTCCCTCAGTTGTTTGCTGGCATGTTCACTAACTGAAAAAAATAAGGAACTCTGGTCAAAAGTGGTGTTTTCAGGCTCAGGGCTGGTCTGAGATGGGTGACTGCAGAGCCCTCCTCTCCCAGAATGCTTTCTGATGTGTTCTGTGCTGCACACTTAACTGGAGTCTCGCCACCATGTCTGGCCCCTGGGGAATGCTGCCAGGCGCTCTATCTTGCTTTCATTGAGTGAACACTGGAGAACATTGTGAGCAAGACCTTGAGGCTAGGTCCTTTCAGGGTGGATGGTGGGGGTAGGCCGGAGAACTGACAAATGAATAAGCCAAGATCCTGACCGTCAGGGTGCAATACAGATTGAAAATGTCTTCAGTGACTGACTGTTTTTCTGTTGCTAAATGAGAGAATATTAGTCTGAAAGAGATTCTGCCTTTTTGTTTTGTTTTGTTTTCTTGAGATGGAGTTTTGTTCTTGTTCCCAGGCTGGAATGCAATGGCTCAACACAACCTCCACCTCTCGGGTTCAAGCGATTCTCCTGCTTCAGCCTCCCAAGTAGCTGGGATTACAGGCATGTGCCACCACGCCCGGCTAATTTTGTATTTTTAGTAGAGACAGGGTTTCTCCATGTTGGTCAGGCTGGTCTCGAACTCCTGATCTCAGGTGATCTGCCTGCTTCAGCCTCCCAAAGTGCTGGGATTACAGGGGTGAGTCACCTTGCCCGGCCCAGATTCTGCCTGTTATTCTGCATGTCTTTTAGTAGAGATGGGGTTTCACCATGTTGTCCAGGCTGGTCTGGAACACCTGACCTCAAGTGATCTGCCTGCCTCGGCCTCCCAAAGTGTTGGAATTACAGGTGTGAGCCACCGTTCCTGGCCTCAACTTTTTGACTAACATGCCTTGGAGTTCTTCCCACTTCAGAACATAAAGATCCTCTTCATTTTTGTTTTGTTTTGAGACGGAGTCTCGCCCTGTCACCTAGGTTGGAGTGCAGTGGTGCCATCTCAGCTCACTGCAACCTCTGCCTCCTGGGTTCAAGAGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGTTTACAGGCGTGCACCACCATACCCAGCTAATTTTTTTTTTTATCTTTAGTAGAGACTGGGTTTCACCATGTTGGCCAGGCTGATCTTGAACTCCTGACCTTGTGATCCACCTGTCTCAGCCTCCCAAAGTGCTGGGATTATAGGCGTGAGCCACCGTGCCCGGCCGATCCTCTTCATTTTTAGTTGCTATACAGTGCTCCATAATACGAATAATAATTTAGTCATTCCTTTATTATTTAAATGGAATTAATTGATTATGAAACAGTTCAAATTTTGACTGCTAAAATTCCCCTCCCTCCCAAGAGGCTGTAGCTAGTTTAGATAGTGAAAAAAATCTTACCTTCTAACTGGATACTTTCAGCCTTTTGGCTTCAGTTTGTTAAATAATGTGTGGCCTCTTTTGATACTGCTCCAAAGCCTTGAGATGGTCCTCTGTCACAGTCCTTGTGGCTCCCACCCTGTGTCACAAGGTGGTTTCTGATAGTGCTGTGGCCTGAGCTTGGTATCAGCCCCATTGTCCCTGTAAGCAGAGATCTGAATTTCTGTTTGAAGGTTGATAAATGCTGTGGTTTTTTTTTTTTGTTTTTTTTGTTTTTTTTTTGGTCACACTTATTCAGCTGCTGCAGTAGTTTCTATGTAGAGTGTATTTGGGTCTGTAGTAGCAGGAGTCTGTCTCAGCACTGTGTCCCTAGGTTTGCTCCTAAATCTGTTCTGTAAAGCATGCACAAATAATACACATCTGTGAGTGCACTTTCATGGTTGTTTCACGTAGTGGGGATGCCTTATTGAATGGAATTTTTGTTTCTGTTGGCTTATTAAAAAGTCTGAGTACATTCTTATTTCATTACAGATAGGTGATCTTCAGCTTTGCAAACTGGATGAACTAGATTGCTTGATCAAAGGAATTTTATACATTGACTCAGTCGGATTCAATGGACGGTCACAGTGCTATTACTTTGAAAACCCTGCTGATTCTGAAAAGTGTCAGAAGTTACCATTTGATTTGAAAAATCCGTATCCTCTGCTTCTGGTGAACATTGGCTCAGGGGTTAGCATCTTAGCAGTATATTCCAAAGATAATTACAAACGGGTCACAGGTACTAGGTAAGTTGTATATAAAACTCACTGTTTATTCTTAGTATCCTAACGGGCTGAGTTTTCAGGTATTACATGTAACTACACCTTCAAGAACCTGTTAGGTGAAAGTGTTTCTGGATTATGCAAACAAATGTTTCTCTTTGAAAATTCTGATTTTATGACCTAGTTTTCTTTAATCTCTACTGTTCAAGATTTATTATCCTAGGTGTTTCTTAAAAGATCACATCAGCAGACTCATTGTAGCCTTTGCCCTCAGATAGTTTATGGTGTGCATACACAAAGTAGCTAAAGTTATTAGGCAGCATCTGTAAGGAGAAGGCACGGGAAAGGACCTAGCTCTGAAACCTGTGTAAATTTCATGCTTCCACACACATGTGTGTGTAGAATAATGATGTATTCTATGTATGTGATTTAGAAGTTGATATGTACTGATCAGTAGAAAAATTATTGAGGGAAGGTAGTATGAAAAGAGAGGATTAGCCGGGCGTGGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCTGGGGCGGGTGGATCATGAGGTCAGGAGTTCAAGACCAGCCTGGCCAACATGGTGAAACCCCATCTCTACTAAAAATACAAAAATTAGCCGGGCGCAGTGGCAGGCGCCTGTGAATCCCAGCTACTCGGGAGGCTGAGGTGGGAGAATTGCTTGAATTCAGAGGGTGGAGGTTGCAGTAAGCCGAGATTATGCCACTGCACTCCAGCCTGGGTGACAGAGTGAGACTCCGTCTCAAAAAAAAAAGAAAAGAGAGTATTAGGGCCAGGCACGGCAGCTTATGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGTGGATCACCAGAGGTCGGGAGTTCGAGACCAGCCTGGCCAACATGGAGAAACCCCATCTCTACTAAAAATACAAAATTAGCCGGGCGTGGTGGCACATGCCTGTAATCCCATATACTTGGGAGGCTGAGGCAGAAAAATCACTTGAACCAGGAGGCAAAGGTTGCGGTGAGCCGAGATCGTGCCATTGTACTCTAGCCTGGGCAAAAAGAGCTAAACTCCATCTCAAAAAAAAAAAATGAGGATTAGATGGAAGAAGAGAATGTTTCGGCTTAAGGGTCAGAGGTCACTTCAGGAAAAACAGGCATCTAGGGATTGGGATAAACAATTTTTTTAAAAAAACAGTTGTGATTTAAATAGAGGAGTAATTTTTTTGTGACAAAACACGTTGCAGGAGGAGTATGTTTGGGGGTGTACTGATAAGCCAGGGTGACAAGGTGCTTGGATGAGAATGACTCAGGGAATGTACTTGGAGAAGGGAAAGGGAGGAGGTGTTAGCATGGCCCCAGGCGTGTCAGGCTAATTTGCACCTGAGGCTCTTCATACTTGGCAGACAGCCAGACTGCACTGGGGACATGGGCCCTGTGTTTTGTACTTTGCATGTTGGCTCACATGCATATGTACCTTAAAGGTGTATATCAGGCACCTTATCTTTTCACAGACTTGTTTCCTACCAGTGGCATTTGCATGATTGGGTTGGATATGTGAATATGGTTTTGGGGTTCATAAATGTTAACTTCTTGTTCTTATTTTTAAAAATGTTATAATACTGTGTTAATTGTTTTTAATCATAGTCTTGGAGGAGGAACTTTTTTTGGTCTCTGCTGTCTTCTTACTGGCTGTACCACTTTTGAAGAAGCTCTTGAAATGGCATCTCGTGGAGATAGCACCAAAGTGGATAAACTAGTACGAGATATTTATGGAGGGGACTATGAGAGGTTTGGACTGCCAGGCTGGGCTGTGGCTTCAAGGTAAGGGGGCATGTGTGTTCTAAGAAATACAGGCGGGCCGGGCGCGGTGGCTCATGCCTTTAATCCCAAAACTTTGA
TGTCATAAAATTGTTTTCAGTCTTGTCTACCACATAATTTCTCTTGTCTCCCTCAGTTGTTTGCTGGCATGTTCACTAACTGAAAAAAATAAGGAACTCTGGTCAAAAGTGGTGTTTTCAGGCTCAGGGCTGGTCTGAGATGGGTGACTGCAGAGCCCTCCTCTCCCAGAATGCTTTCTGATGTGTTCTGTGCTGCACACTTAACTGGAGTCTCGCCACCATGTCTGGCCCCTGGGGAATGCTGCCAGGCGCTCTATCTTGCTTTCATTGAGTGAACACTGGAGAACATTGTGAGCAAGACCTTGAGGCTAGGTCCTTTCAGGGTGGATGGTGGGGGTAGGCCGGAGAACTGACAAATGAATAAGCCAAGATCCTGACCGTCAGGGTGCAATACAGATTGAAAATGTCTTCAGTGACTGACTGTTTTTCTGTTGCTAAATGAGAGAATATTAGTCTGAAAGAGATTCTGCCTTTTTGTTTTGTTTTGTTTTCTTGAGATGGAGTTTTGTTCTTGTTCCCAGGCTGGAATGCAATGGCTCAACACAACCTCCACCTCTCGGGTTCAAGCGATTCTCCTGCTTCAGCCTCCCAAGTAGCTGGGATTACAGGCATGTGCCACCACGCCCGGCTAATTTTGTATTTTTAGTAGAGACAGGGTTTCTCCATGTTGGTCAGGCTGGTCTCGAACTCCTGATCTCAGGTGATCTGCCTGCTTCAGCCTCCCAAAGTGCTGGGATTACAGGGGTGAGTCACCTTGCCCGGCCCAGATTCTGCCTGTTATTCTGCATGTCTTTTAGTAGAGATGGGGTTTCACCATGTTGTCCAGGCTGGTCTGGAACACCTGACCTCAAGTGATCTGCCTGCCTCGGCCTCCCAAAGTGTTGGAATTACAGGTGTGAGCCACCGTTCCTGGCCTCAACTTTTTGACTAACATGCCTTGGAGTTCTTCCCACTTCAGAACATAAAGATCCTCTTCATTTTTGTTTTGTTTTGAGACGGAGTCTCGCCCTGTCACCTAGGTTGGAGTGCAGTGGTGCCATCTCAGCTCACTGCAACCTCTGCCTCCTGGGTTCAAGAGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGTTTACAGGCGTGCACCACCATACCCAGCTAATTTTTTTTTTTATCTTTAGTAGAGACTGGGTTTCACCATGTTGGCCAGGCTGATCTTGAACTCCTGACCTTGTGATCCACCTGTCTCAGCCTCCCAAAGTGCTGGGATTATAGGCGTGAGCCACCGTGCCCGGCCGATCCTCTTCATTTTTAGTTGCTATACAGTGCTCCATAATACGAATAATAATTTAGTCATTCCTTTATTATTTAAATGGAATTAATTGATTATGAAACAGTTCAAATTTTGACTGCTAAAATTCCCCTCCCTCCCAAGAGGCTGTAGCTAGTTTAGATAGTGAAAAAAATCTTACCTTCTAACTGGATACTTTCAGCCTTTTGGCTTCAGTTTGTTAAATAATGTGTGGCCTCTTTTGATACTGCTCCAAAGCCTTGAGATGGTCCTCTGTCACAGTCCTTGTGGCTCCCACCCTGTGTCACAAGGTGGTTTCTGATAGTGCTGTGGCCTGAGCTTGGTATCAGCCCCATTGTCCCTGTAAGCAGAGATCTGAATTTCTGTTTGAAGGTTGATAAATGCTGTGGTTTTTTTTTTTTGTTTTTTTTGTTTTTTTTTTGGTCACACTTATTCAGCTGCTGCAGTAGTTTCTATGTAGAGTGTATTTGGGTCTGTAGTAGCAGGAGTCTGTCTCAGCACTGTGTCCCTAGGTTTGCTCCTAAATCTGTTCTGTAAAGCATGCACAAATAATACACATCTGTGAGTGCACTTTCATGGTTGTTTCACGTAGTGGGGATGCCTTATTGAATGGAATTTTTGTTTCTGTTGGCTTATTAAAAAGTCTGAGTACATTCTTATTTCATTACAGATAGGTGATCTTCAGCTTTGCAAACTGGATGAACTAGATTGCTTGATCAAAGGAATTTTATACATTGACTCAGTCGGATTCAATGGATGGTCACAGTGCTATTACTTTGAAAACCCTGCTGATTCTGAAAAGTGTCAGAAGTTACCATTTGATTTGAAAAATCCGTATCCTCTGCTTCTGGTGAACATTGGCTCAGGGGTTAGCATCTTAGCAGTATATTCCAAAGATAATTACAAACGGGTCACAGGTACTAGGTAAGTTGTATATAAAACTCACTGTTTATTCTTAGTATCCTAACGGGCTGAGTTTTCAGGTATTACATGTAACTACACCTTCAAGAACCTGTTAGGTGAAAGTGTTTCTGGATTATGCAAACAAATGTTTCTCTTTGAAAATTCTGATTTTATGACCTAGTTTTCTTTAATCTCTACTGTTCAAGATTTATTATCCTAGGTGTTTCTTAAAAGATCACATCAGCAGACTCATTGTAGCCTTTGCCCTCAGATAGTTTATGGTGTGCATACACAAAGTAGCTAAAGTTATTAGGCAGCATCTGTAAGGAGAAGGCACGGGAAAGGACCTAGCTCTGAAACCTGTGTAAATTTCATGCTTCCACACACATGTGTGTGTAGAATAATGATGTATTCTATGTATGTGATTTAGAAGTTGATATGTACTGATCAGTAGAAAAATTATTGAGGGAAGGTAGTATGAAAAGAGAGGATTAGCCGGGCGTGGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCTGGGGCGGGTGGATCATGAGGTCAGGAGTTCAAGACCAGCCTGGCCAACATGGTGAAACCCCATCTCTACTAAAAATACAAAAATTAGCCGGGCGCAGTGGCAGGCGCCTGTGAATCCCAGCTACTCGGGAGGCTGAGGTGGGAGAATTGCTTGAATTCAGAGGGTGGAGGTTGCAGTAAGCCGAGATTATGCCACTGCACTCCAGCCTGGGTGACAGAGTGAGACTCCGTCTCAAAAAAAAAAGAAAAGAGAGTATTAGGGCCAGGCACGGCAGCTTATGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGTGGATCACCAGAGGTCGGGAGTTCGAGACCAGCCTGGCCAACATGGAGAAACCCCATCTCTACTAAAAATACAAAATTAGCCGGGCGTGGTGGCACATGCCTGTAATCCCATATACTTGGGAGGCTGAGGCAGAAAAATCACTTGAACCAGGAGGCAAAGGTTGCGGTGAGCCGAGATCGTGCCATTGTACTCTAGCCTGGGCAAAAAGAGCTAAACTCCATCTCAAAAAAAAAAAATGAGGATTAGATGGAAGAAGAGAATGTTTCGGCTTAAGGGTCAGAGGTCACTTCAGGAAAAACAGGCATCTAGGGATTGGGATAAACAATTTTTTTAAAAAAACAGTTGTGATTTAAATAGAGGAGTAATTTTTTTGTGACAAAACACGTTGCAGGAGGAGTATGTTTGGGGGTGTACTGATAAGCCAGGGTGACAAGGTGCTTGGATGAGAATGACTCAGGGAATGTACTTGGAGAAGGGAAAGGGAGGAGGTGTTAGCATGGCCCCAGGCGTGTCAGGCTAATTTGCACCTGAGGCTCTTCATACTTGGCAGACAGCCAGACTGCACTGGGGACATGGGCCCTGTGTTTTGTACTTTGCATGTTGGCTCACATGCATATGTACCTTAAAGGTGTATATCAGGCACCTTATCTTTTCACAGACTTGTTTCCTACCAGTGGCATTTGCATGATTGGGTTGGATATGTGAATATGGTTTTGGGGTTCATAAATGTTAACTTCTTGTTCTTATTTTTAAAAATGTTATAATACTGTGTTAATTGTTTTTAATCATAGTCTTGGAGGAGGAACTTTTTTTGGTCTCTGCTGTCTTCTTACTGGCTGTACCACTTTTGAAGAAGCTCTTGAAATGGCATCTCGTGGAGATAGCACCAAAGTGGATAAACTAGTACGAGATATTTATGGAGGGGACTATGAGAGGTTTGGACTGCCAGGCTGGGCTGTGGCTTCAAGGTAAGGGGGCATGTGTGTTCTAAGAAATACAGGCGGGCCGGGCGCGGTGGCTCATGCCTTTAATCCCAAAACTTTGA
Task1_train_27663
Here’s a variant in PANK2 (pantothenate kinase 2) located on Chromosome 20. What is the predicted biological effect — harmless or disease-causing?
Pathogenic; Pigmentary pallidal degeneration
GGTGACTGCAGAGCCCTCCTCTCCCAGAATGCTTTCTGATGTGTTCTGTGCTGCACACTTAACTGGAGTCTCGCCACCATGTCTGGCCCCTGGGGAATGCTGCCAGGCGCTCTATCTTGCTTTCATTGAGTGAACACTGGAGAACATTGTGAGCAAGACCTTGAGGCTAGGTCCTTTCAGGGTGGATGGTGGGGGTAGGCCGGAGAACTGACAAATGAATAAGCCAAGATCCTGACCGTCAGGGTGCAATACAGATTGAAAATGTCTTCAGTGACTGACTGTTTTTCTGTTGCTAAATGAGAGAATATTAGTCTGAAAGAGATTCTGCCTTTTTGTTTTGTTTTGTTTTCTTGAGATGGAGTTTTGTTCTTGTTCCCAGGCTGGAATGCAATGGCTCAACACAACCTCCACCTCTCGGGTTCAAGCGATTCTCCTGCTTCAGCCTCCCAAGTAGCTGGGATTACAGGCATGTGCCACCACGCCCGGCTAATTTTGTATTTTTAGTAGAGACAGGGTTTCTCCATGTTGGTCAGGCTGGTCTCGAACTCCTGATCTCAGGTGATCTGCCTGCTTCAGCCTCCCAAAGTGCTGGGATTACAGGGGTGAGTCACCTTGCCCGGCCCAGATTCTGCCTGTTATTCTGCATGTCTTTTAGTAGAGATGGGGTTTCACCATGTTGTCCAGGCTGGTCTGGAACACCTGACCTCAAGTGATCTGCCTGCCTCGGCCTCCCAAAGTGTTGGAATTACAGGTGTGAGCCACCGTTCCTGGCCTCAACTTTTTGACTAACATGCCTTGGAGTTCTTCCCACTTCAGAACATAAAGATCCTCTTCATTTTTGTTTTGTTTTGAGACGGAGTCTCGCCCTGTCACCTAGGTTGGAGTGCAGTGGTGCCATCTCAGCTCACTGCAACCTCTGCCTCCTGGGTTCAAGAGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGTTTACAGGCGTGCACCACCATACCCAGCTAATTTTTTTTTTTATCTTTAGTAGAGACTGGGTTTCACCATGTTGGCCAGGCTGATCTTGAACTCCTGACCTTGTGATCCACCTGTCTCAGCCTCCCAAAGTGCTGGGATTATAGGCGTGAGCCACCGTGCCCGGCCGATCCTCTTCATTTTTAGTTGCTATACAGTGCTCCATAATACGAATAATAATTTAGTCATTCCTTTATTATTTAAATGGAATTAATTGATTATGAAACAGTTCAAATTTTGACTGCTAAAATTCCCCTCCCTCCCAAGAGGCTGTAGCTAGTTTAGATAGTGAAAAAAATCTTACCTTCTAACTGGATACTTTCAGCCTTTTGGCTTCAGTTTGTTAAATAATGTGTGGCCTCTTTTGATACTGCTCCAAAGCCTTGAGATGGTCCTCTGTCACAGTCCTTGTGGCTCCCACCCTGTGTCACAAGGTGGTTTCTGATAGTGCTGTGGCCTGAGCTTGGTATCAGCCCCATTGTCCCTGTAAGCAGAGATCTGAATTTCTGTTTGAAGGTTGATAAATGCTGTGGTTTTTTTTTTTTGTTTTTTTTGTTTTTTTTTTGGTCACACTTATTCAGCTGCTGCAGTAGTTTCTATGTAGAGTGTATTTGGGTCTGTAGTAGCAGGAGTCTGTCTCAGCACTGTGTCCCTAGGTTTGCTCCTAAATCTGTTCTGTAAAGCATGCACAAATAATACACATCTGTGAGTGCACTTTCATGGTTGTTTCACGTAGTGGGGATGCCTTATTGAATGGAATTTTTGTTTCTGTTGGCTTATTAAAAAGTCTGAGTACATTCTTATTTCATTACAGATAGGTGATCTTCAGCTTTGCAAACTGGATGAACTAGATTGCTTGATCAAAGGAATTTTATACATTGACTCAGTCGGATTCAATGGACGGTCACAGTGCTATTACTTTGAAAACCCTGCTGATTCTGAAAAGTGTCAGAAGTTACCATTTGATTTGAAAAATCCGTATCCTCTGCTTCTGGTGAACATTGGCTCAGGGGTTAGCATCTTAGCAGTATATTCCAAAGATAATTACAAACGGGTCACAGGTACTAGGTAAGTTGTATATAAAACTCACTGTTTATTCTTAGTATCCTAACGGGCTGAGTTTTCAGGTATTACATGTAACTACACCTTCAAGAACCTGTTAGGTGAAAGTGTTTCTGGATTATGCAAACAAATGTTTCTCTTTGAAAATTCTGATTTTATGACCTAGTTTTCTTTAATCTCTACTGTTCAAGATTTATTATCCTAGGTGTTTCTTAAAAGATCACATCAGCAGACTCATTGTAGCCTTTGCCCTCAGATAGTTTATGGTGTGCATACACAAAGTAGCTAAAGTTATTAGGCAGCATCTGTAAGGAGAAGGCACGGGAAAGGACCTAGCTCTGAAACCTGTGTAAATTTCATGCTTCCACACACATGTGTGTGTAGAATAATGATGTATTCTATGTATGTGATTTAGAAGTTGATATGTACTGATCAGTAGAAAAATTATTGAGGGAAGGTAGTATGAAAAGAGAGGATTAGCCGGGCGTGGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCTGGGGCGGGTGGATCATGAGGTCAGGAGTTCAAGACCAGCCTGGCCAACATGGTGAAACCCCATCTCTACTAAAAATACAAAAATTAGCCGGGCGCAGTGGCAGGCGCCTGTGAATCCCAGCTACTCGGGAGGCTGAGGTGGGAGAATTGCTTGAATTCAGAGGGTGGAGGTTGCAGTAAGCCGAGATTATGCCACTGCACTCCAGCCTGGGTGACAGAGTGAGACTCCGTCTCAAAAAAAAAAGAAAAGAGAGTATTAGGGCCAGGCACGGCAGCTTATGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGTGGATCACCAGAGGTCGGGAGTTCGAGACCAGCCTGGCCAACATGGAGAAACCCCATCTCTACTAAAAATACAAAATTAGCCGGGCGTGGTGGCACATGCCTGTAATCCCATATACTTGGGAGGCTGAGGCAGAAAAATCACTTGAACCAGGAGGCAAAGGTTGCGGTGAGCCGAGATCGTGCCATTGTACTCTAGCCTGGGCAAAAAGAGCTAAACTCCATCTCAAAAAAAAAAAATGAGGATTAGATGGAAGAAGAGAATGTTTCGGCTTAAGGGTCAGAGGTCACTTCAGGAAAAACAGGCATCTAGGGATTGGGATAAACAATTTTTTTAAAAAAACAGTTGTGATTTAAATAGAGGAGTAATTTTTTTGTGACAAAACACGTTGCAGGAGGAGTATGTTTGGGGGTGTACTGATAAGCCAGGGTGACAAGGTGCTTGGATGAGAATGACTCAGGGAATGTACTTGGAGAAGGGAAAGGGAGGAGGTGTTAGCATGGCCCCAGGCGTGTCAGGCTAATTTGCACCTGAGGCTCTTCATACTTGGCAGACAGCCAGACTGCACTGGGGACATGGGCCCTGTGTTTTGTACTTTGCATGTTGGCTCACATGCATATGTACCTTAAAGGTGTATATCAGGCACCTTATCTTTTCACAGACTTGTTTCCTACCAGTGGCATTTGCATGATTGGGTTGGATATGTGAATATGGTTTTGGGGTTCATAAATGTTAACTTCTTGTTCTTATTTTTAAAAATGTTATAATACTGTGTTAATTGTTTTTAATCATAGTCTTGGAGGAGGAACTTTTTTTGGTCTCTGCTGTCTTCTTACTGGCTGTACCACTTTTGAAGAAGCTCTTGAAATGGCATCTCGTGGAGATAGCACCAAAGTGGATAAACTAGTACGAGATATTTATGGAGGGGACTATGAGAGGTTTGGACTGCCAGGCTGGGCTGTGGCTTCAAGGTAAGGGGGCATGTGTGTTCTAAGAAATACAGGCGGGCCGGGCGCGGTGGCTCATGCCTTTAATCCCAAAACTTTGAGAGGCCGAGATGGGCAGATCATGAGGTCAGGAGTTTGAGACCAGCCTGGCCAACATAGTGTAACCCTGTCTCTACTAAAAATACAAAAATTAGCTAGGCATGGTGGTGCGCGCCTGTAGACCCAGGTACTTGGGAGGCTGAG
GGTGACTGCAGAGCCCTCCTCTCCCAGAATGCTTTCTGATGTGTTCTGTGCTGCACACTTAACTGGAGTCTCGCCACCATGTCTGGCCCCTGGGGAATGCTGCCAGGCGCTCTATCTTGCTTTCATTGAGTGAACACTGGAGAACATTGTGAGCAAGACCTTGAGGCTAGGTCCTTTCAGGGTGGATGGTGGGGGTAGGCCGGAGAACTGACAAATGAATAAGCCAAGATCCTGACCGTCAGGGTGCAATACAGATTGAAAATGTCTTCAGTGACTGACTGTTTTTCTGTTGCTAAATGAGAGAATATTAGTCTGAAAGAGATTCTGCCTTTTTGTTTTGTTTTGTTTTCTTGAGATGGAGTTTTGTTCTTGTTCCCAGGCTGGAATGCAATGGCTCAACACAACCTCCACCTCTCGGGTTCAAGCGATTCTCCTGCTTCAGCCTCCCAAGTAGCTGGGATTACAGGCATGTGCCACCACGCCCGGCTAATTTTGTATTTTTAGTAGAGACAGGGTTTCTCCATGTTGGTCAGGCTGGTCTCGAACTCCTGATCTCAGGTGATCTGCCTGCTTCAGCCTCCCAAAGTGCTGGGATTACAGGGGTGAGTCACCTTGCCCGGCCCAGATTCTGCCTGTTATTCTGCATGTCTTTTAGTAGAGATGGGGTTTCACCATGTTGTCCAGGCTGGTCTGGAACACCTGACCTCAAGTGATCTGCCTGCCTCGGCCTCCCAAAGTGTTGGAATTACAGGTGTGAGCCACCGTTCCTGGCCTCAACTTTTTGACTAACATGCCTTGGAGTTCTTCCCACTTCAGAACATAAAGATCCTCTTCATTTTTGTTTTGTTTTGAGACGGAGTCTCGCCCTGTCACCTAGGTTGGAGTGCAGTGGTGCCATCTCAGCTCACTGCAACCTCTGCCTCCTGGGTTCAAGAGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGTTTACAGGCGTGCACCACCATACCCAGCTAATTTTTTTTTTTATCTTTAGTAGAGACTGGGTTTCACCATGTTGGCCAGGCTGATCTTGAACTCCTGACCTTGTGATCCACCTGTCTCAGCCTCCCAAAGTGCTGGGATTATAGGCGTGAGCCACCGTGCCCGGCCGATCCTCTTCATTTTTAGTTGCTATACAGTGCTCCATAATACGAATAATAATTTAGTCATTCCTTTATTATTTAAATGGAATTAATTGATTATGAAACAGTTCAAATTTTGACTGCTAAAATTCCCCTCCCTCCCAAGAGGCTGTAGCTAGTTTAGATAGTGAAAAAAATCTTACCTTCTAACTGGATACTTTCAGCCTTTTGGCTTCAGTTTGTTAAATAATGTGTGGCCTCTTTTGATACTGCTCCAAAGCCTTGAGATGGTCCTCTGTCACAGTCCTTGTGGCTCCCACCCTGTGTCACAAGGTGGTTTCTGATAGTGCTGTGGCCTGAGCTTGGTATCAGCCCCATTGTCCCTGTAAGCAGAGATCTGAATTTCTGTTTGAAGGTTGATAAATGCTGTGGTTTTTTTTTTTTGTTTTTTTTGTTTTTTTTTTGGTCACACTTATTCAGCTGCTGCAGTAGTTTCTATGTAGAGTGTATTTGGGTCTGTAGTAGCAGGAGTCTGTCTCAGCACTGTGTCCCTAGGTTTGCTCCTAAATCTGTTCTGTAAAGCATGCACAAATAATACACATCTGTGAGTGCACTTTCATGGTTGTTTCACGTAGTGGGGATGCCTTATTGAATGGAATTTTTGTTTCTGTTGGCTTATTAAAAAGTCTGAGTACATTCTTATTTCATTACAGATAGGTGATCTTCAGCTTTGCAAACTGGATGAACTAGATTGCTTGATCAAAGGAATTTTATACATTGACTCAGTCGGATTCAATGGACGGTCACAGTGCTATTACTTTGAAAACCCTGCTGATTCTGAAAAGTGTCAGAAGTTACCATTTGATTTGAAAAATCCGTATCCTCTGCTTCTGGTGAACATTGGCTCAGGGGTTAGCATCTTAGCAGTATATTCCAAAGATATTTACAAACGGGTCACAGGTACTAGGTAAGTTGTATATAAAACTCACTGTTTATTCTTAGTATCCTAACGGGCTGAGTTTTCAGGTATTACATGTAACTACACCTTCAAGAACCTGTTAGGTGAAAGTGTTTCTGGATTATGCAAACAAATGTTTCTCTTTGAAAATTCTGATTTTATGACCTAGTTTTCTTTAATCTCTACTGTTCAAGATTTATTATCCTAGGTGTTTCTTAAAAGATCACATCAGCAGACTCATTGTAGCCTTTGCCCTCAGATAGTTTATGGTGTGCATACACAAAGTAGCTAAAGTTATTAGGCAGCATCTGTAAGGAGAAGGCACGGGAAAGGACCTAGCTCTGAAACCTGTGTAAATTTCATGCTTCCACACACATGTGTGTGTAGAATAATGATGTATTCTATGTATGTGATTTAGAAGTTGATATGTACTGATCAGTAGAAAAATTATTGAGGGAAGGTAGTATGAAAAGAGAGGATTAGCCGGGCGTGGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCTGGGGCGGGTGGATCATGAGGTCAGGAGTTCAAGACCAGCCTGGCCAACATGGTGAAACCCCATCTCTACTAAAAATACAAAAATTAGCCGGGCGCAGTGGCAGGCGCCTGTGAATCCCAGCTACTCGGGAGGCTGAGGTGGGAGAATTGCTTGAATTCAGAGGGTGGAGGTTGCAGTAAGCCGAGATTATGCCACTGCACTCCAGCCTGGGTGACAGAGTGAGACTCCGTCTCAAAAAAAAAAGAAAAGAGAGTATTAGGGCCAGGCACGGCAGCTTATGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGTGGATCACCAGAGGTCGGGAGTTCGAGACCAGCCTGGCCAACATGGAGAAACCCCATCTCTACTAAAAATACAAAATTAGCCGGGCGTGGTGGCACATGCCTGTAATCCCATATACTTGGGAGGCTGAGGCAGAAAAATCACTTGAACCAGGAGGCAAAGGTTGCGGTGAGCCGAGATCGTGCCATTGTACTCTAGCCTGGGCAAAAAGAGCTAAACTCCATCTCAAAAAAAAAAAATGAGGATTAGATGGAAGAAGAGAATGTTTCGGCTTAAGGGTCAGAGGTCACTTCAGGAAAAACAGGCATCTAGGGATTGGGATAAACAATTTTTTTAAAAAAACAGTTGTGATTTAAATAGAGGAGTAATTTTTTTGTGACAAAACACGTTGCAGGAGGAGTATGTTTGGGGGTGTACTGATAAGCCAGGGTGACAAGGTGCTTGGATGAGAATGACTCAGGGAATGTACTTGGAGAAGGGAAAGGGAGGAGGTGTTAGCATGGCCCCAGGCGTGTCAGGCTAATTTGCACCTGAGGCTCTTCATACTTGGCAGACAGCCAGACTGCACTGGGGACATGGGCCCTGTGTTTTGTACTTTGCATGTTGGCTCACATGCATATGTACCTTAAAGGTGTATATCAGGCACCTTATCTTTTCACAGACTTGTTTCCTACCAGTGGCATTTGCATGATTGGGTTGGATATGTGAATATGGTTTTGGGGTTCATAAATGTTAACTTCTTGTTCTTATTTTTAAAAATGTTATAATACTGTGTTAATTGTTTTTAATCATAGTCTTGGAGGAGGAACTTTTTTTGGTCTCTGCTGTCTTCTTACTGGCTGTACCACTTTTGAAGAAGCTCTTGAAATGGCATCTCGTGGAGATAGCACCAAAGTGGATAAACTAGTACGAGATATTTATGGAGGGGACTATGAGAGGTTTGGACTGCCAGGCTGGGCTGTGGCTTCAAGGTAAGGGGGCATGTGTGTTCTAAGAAATACAGGCGGGCCGGGCGCGGTGGCTCATGCCTTTAATCCCAAAACTTTGAGAGGCCGAGATGGGCAGATCATGAGGTCAGGAGTTTGAGACCAGCCTGGCCAACATAGTGTAACCCTGTCTCTACTAAAAATACAAAAATTAGCTAGGCATGGTGGTGCGCGCCTGTAGACCCAGGTACTTGGGAGGCTGAG
Task1_train_27664
This mutation occurs in PANK2 (pantothenate kinase 2) on Chromosome 20. Does this change lead to a known medical condition, or is it benign?
Pathogenic; Pigmentary pallidal degeneration
TGCACAAATAATACACATCTGTGAGTGCACTTTCATGGTTGTTTCACGTAGTGGGGATGCCTTATTGAATGGAATTTTTGTTTCTGTTGGCTTATTAAAAAGTCTGAGTACATTCTTATTTCATTACAGATAGGTGATCTTCAGCTTTGCAAACTGGATGAACTAGATTGCTTGATCAAAGGAATTTTATACATTGACTCAGTCGGATTCAATGGACGGTCACAGTGCTATTACTTTGAAAACCCTGCTGATTCTGAAAAGTGTCAGAAGTTACCATTTGATTTGAAAAATCCGTATCCTCTGCTTCTGGTGAACATTGGCTCAGGGGTTAGCATCTTAGCAGTATATTCCAAAGATAATTACAAACGGGTCACAGGTACTAGGTAAGTTGTATATAAAACTCACTGTTTATTCTTAGTATCCTAACGGGCTGAGTTTTCAGGTATTACATGTAACTACACCTTCAAGAACCTGTTAGGTGAAAGTGTTTCTGGATTATGCAAACAAATGTTTCTCTTTGAAAATTCTGATTTTATGACCTAGTTTTCTTTAATCTCTACTGTTCAAGATTTATTATCCTAGGTGTTTCTTAAAAGATCACATCAGCAGACTCATTGTAGCCTTTGCCCTCAGATAGTTTATGGTGTGCATACACAAAGTAGCTAAAGTTATTAGGCAGCATCTGTAAGGAGAAGGCACGGGAAAGGACCTAGCTCTGAAACCTGTGTAAATTTCATGCTTCCACACACATGTGTGTGTAGAATAATGATGTATTCTATGTATGTGATTTAGAAGTTGATATGTACTGATCAGTAGAAAAATTATTGAGGGAAGGTAGTATGAAAAGAGAGGATTAGCCGGGCGTGGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCTGGGGCGGGTGGATCATGAGGTCAGGAGTTCAAGACCAGCCTGGCCAACATGGTGAAACCCCATCTCTACTAAAAATACAAAAATTAGCCGGGCGCAGTGGCAGGCGCCTGTGAATCCCAGCTACTCGGGAGGCTGAGGTGGGAGAATTGCTTGAATTCAGAGGGTGGAGGTTGCAGTAAGCCGAGATTATGCCACTGCACTCCAGCCTGGGTGACAGAGTGAGACTCCGTCTCAAAAAAAAAAGAAAAGAGAGTATTAGGGCCAGGCACGGCAGCTTATGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGTGGATCACCAGAGGTCGGGAGTTCGAGACCAGCCTGGCCAACATGGAGAAACCCCATCTCTACTAAAAATACAAAATTAGCCGGGCGTGGTGGCACATGCCTGTAATCCCATATACTTGGGAGGCTGAGGCAGAAAAATCACTTGAACCAGGAGGCAAAGGTTGCGGTGAGCCGAGATCGTGCCATTGTACTCTAGCCTGGGCAAAAAGAGCTAAACTCCATCTCAAAAAAAAAAAATGAGGATTAGATGGAAGAAGAGAATGTTTCGGCTTAAGGGTCAGAGGTCACTTCAGGAAAAACAGGCATCTAGGGATTGGGATAAACAATTTTTTTAAAAAAACAGTTGTGATTTAAATAGAGGAGTAATTTTTTTGTGACAAAACACGTTGCAGGAGGAGTATGTTTGGGGGTGTACTGATAAGCCAGGGTGACAAGGTGCTTGGATGAGAATGACTCAGGGAATGTACTTGGAGAAGGGAAAGGGAGGAGGTGTTAGCATGGCCCCAGGCGTGTCAGGCTAATTTGCACCTGAGGCTCTTCATACTTGGCAGACAGCCAGACTGCACTGGGGACATGGGCCCTGTGTTTTGTACTTTGCATGTTGGCTCACATGCATATGTACCTTAAAGGTGTATATCAGGCACCTTATCTTTTCACAGACTTGTTTCCTACCAGTGGCATTTGCATGATTGGGTTGGATATGTGAATATGGTTTTGGGGTTCATAAATGTTAACTTCTTGTTCTTATTTTTAAAAATGTTATAATACTGTGTTAATTGTTTTTAATCATAGTCTTGGAGGAGGAACTTTTTTTGGTCTCTGCTGTCTTCTTACTGGCTGTACCACTTTTGAAGAAGCTCTTGAAATGGCATCTCGTGGAGATAGCACCAAAGTGGATAAACTAGTACGAGATATTTATGGAGGGGACTATGAGAGGTTTGGACTGCCAGGCTGGGCTGTGGCTTCAAGGTAAGGGGGCATGTGTGTTCTAAGAAATACAGGCGGGCCGGGCGCGGTGGCTCATGCCTTTAATCCCAAAACTTTGAGAGGCCGAGATGGGCAGATCATGAGGTCAGGAGTTTGAGACCAGCCTGGCCAACATAGTGTAACCCTGTCTCTACTAAAAATACAAAAATTAGCTAGGCATGGTGGTGCGCGCCTGTAGACCCAGGTACTTGGGAGGCTGAGGCAGGAGAATCACTTGAACCCTGGAGGTGGAGGGTGCGGTGAGCTCCAGCCTAGGTAACGGAGTGAGACTCTGTCTCAAAAAAAAAAAAAAAAAAAAAAAAGACATAAAATAATAATATTGGGCATATTTTTTAAAAAAGCTCTATTGAGATATAATTTACGTACTATAAAGTCAGCTGTTTGAAGCGTACAATTTAGTGGTTTCTAGTATATTTACAGGATTGTGCAACCATCACTGTAATCCCAATTTTAGGACATTTTTATCATCCTAGAAAGAAACCTTGTGTTCATTAGCTACGACTCTCCATTCCCCCCACAGCCCCTGCCAAACAGTAATTTATTTTCAATGTAGGTTTGCCTCTTCTGAACATTTCATATAAGTGGTATCATACAGTATATGATCTTTTGTGATTACTTCTTCATATAGCATATGTTTTCAAACATTCACATTACAGTGTGAATCAGTACTTTATTCCTTTTTATTGCCAAATAATATTTCTTTTTTCTGAGACGGCGTTTTACTCTTTTTGCCCAGGCTGGAGTGCAATGGCGTGATCTCGGCTCACCACAACCCCCACCTCCCAGGTTCAAGCAATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGCATGCGCCACCAAGCCTGGCTAATTTTGTATTTTTTAGTAGGGAAAGGATTTCTCCATGTTGGCCGGGCAGGTCTCGAACTCAGGTGATCTGCCGCCTCAGCCTCCCAAAGTGCTAGGATTACAGGTGTGAGCCACCGCGCCCGGCTGCCACATAATATTTCATTACGTGGATAATACTACATTTTATCCATTTATTGGTTGATGAACATTTGGGTTGTTTCCATTTTTTGGTTATAATGTTGAACATTTATATGTAAGTCTTTGTATGTATGCACACACACACACACATATATATATATATATTTTTTTTTTTTTTTTGAGACGGAGTCTTGGTCTGTCGCCCAGGCTGGAGTGCAGTGGCGTGATCTCGGCTCACTGCAAGCTCTAGCTCCTGGGTTCATGCCATTCTTCTGCTTCAGCCTTCCAAGTAGCTGGGACTACAGGTGCCTGCCACCACGCCCGGCTATTTTTTTTGTATTTTTAGCAGAGATGGGGTTTCACTATGTTGGCCAGGATGGTCTCGATCTGCTGACCTCATGATCCGCCCGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACTGCGCCTGGCCTGCACATATATTTCTAATTCTATTGGGTATATACCTGAGAGTAGAATTGCTGAGTCATATGGTCACTTAATGTTTAATCTTTTGAGGAACTGCTACACTGTTTTCCAAAGTGGCAGTCCCATTTTACAATCTTAGCAGTTTATGAGCGTTTATATTTCTTGTCAACATTTGTTATTATCTGTCTTCTTGGTTTTAGTTGTCTTAATAGGAGTGAAGTGATATCTTGTAGCGTTTTTATTTTTTAAGAGGCAGGGTCTCGCCCTGTTGCCCACATGAGAGTGCAGTGTTGCGATCATAACTGGCTGCAGCCTGTGTCTCCTGGGCTCAGGTGTTTCTCCTGCCTCAGTCTCCTGAGTCACTAGGACTACAGCTGTGCACTGCCTTGCCTAATTTTTTTTTTGTAGAGATAGGGTCTTGCTATGTTGCCTAGGCTGTCCTGGCCTCAAGTGATCCTC
TGCACAAATAATACACATCTGTGAGTGCACTTTCATGGTTGTTTCACGTAGTGGGGATGCCTTATTGAATGGAATTTTTGTTTCTGTTGGCTTATTAAAAAGTCTGAGTACATTCTTATTTCATTACAGATAGGTGATCTTCAGCTTTGCAAACTGGATGAACTAGATTGCTTGATCAAAGGAATTTTATACATTGACTCAGTCGGATTCAATGGACGGTCACAGTGCTATTACTTTGAAAACCCTGCTGATTCTGAAAAGTGTCAGAAGTTACCATTTGATTTGAAAAATCCGTATCCTCTGCTTCTGGTGAACATTGGCTCAGGGGTTAGCATCTTAGCAGTATATTCCAAAGATAATTACAAACGGGTCACAGGTACTAGGTAAGTTGTATATAAAACTCACTGTTTATTCTTAGTATCCTAACGGGCTGAGTTTTCAGGTATTACATGTAACTACACCTTCAAGAACCTGTTAGGTGAAAGTGTTTCTGGATTATGCAAACAAATGTTTCTCTTTGAAAATTCTGATTTTATGACCTAGTTTTCTTTAATCTCTACTGTTCAAGATTTATTATCCTAGGTGTTTCTTAAAAGATCACATCAGCAGACTCATTGTAGCCTTTGCCCTCAGATAGTTTATGGTGTGCATACACAAAGTAGCTAAAGTTATTAGGCAGCATCTGTAAGGAGAAGGCACGGGAAAGGACCTAGCTCTGAAACCTGTGTAAATTTCATGCTTCCACACACATGTGTGTGTAGAATAATGATGTATTCTATGTATGTGATTTAGAAGTTGATATGTACTGATCAGTAGAAAAATTATTGAGGGAAGGTAGTATGAAAAGAGAGGATTAGCCGGGCGTGGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCTGGGGCGGGTGGATCATGAGGTCAGGAGTTCAAGACCAGCCTGGCCAACATGGTGAAACCCCATCTCTACTAAAAATACAAAAATTAGCCGGGCGCAGTGGCAGGCGCCTGTGAATCCCAGCTACTCGGGAGGCTGAGGTGGGAGAATTGCTTGAATTCAGAGGGTGGAGGTTGCAGTAAGCCGAGATTATGCCACTGCACTCCAGCCTGGGTGACAGAGTGAGACTCCGTCTCAAAAAAAAAAGAAAAGAGAGTATTAGGGCCAGGCACGGCAGCTTATGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGTGGATCACCAGAGGTCGGGAGTTCGAGACCAGCCTGGCCAACATGGAGAAACCCCATCTCTACTAAAAATACAAAATTAGCCGGGCGTGGTGGCACATGCCTGTAATCCCATATACTTGGGAGGCTGAGGCAGAAAAATCACTTGAACCAGGAGGCAAAGGTTGCGGTGAGCCGAGATCGTGCCATTGTACTCTAGCCTGGGCAAAAAGAGCTAAACTCCATCTCAAAAAAAAAAAATGAGGATTAGATGGAAGAAGAGAATGTTTCGGCTTAAGGGTCAGAGGTCACTTCAGGAAAAACAGGCATCTAGGGATTGGGATAAACAATTTTTTTAAAAAAACAGTTGTGATTTAAATAGAGGAGTAATTTTTTTGTGACAAAACACGTTGCAGGAGGAGTATGTTTGGGGGTGTACTGATAAGCCAGGGTGACAAGGTGCTTGGATGAGAATGACTCAGGGAATGTACTTGGAGAAGGGAAAGGGAGGAGGTGTTAGCATGGCCCCAGGCGTGTCAGGCTAATTTGCACCTGAGGCTCTTCATACTTGGCAGACAGCCAGACTGCACTGGGGACATGGGCCCTGTGTTTTGTACTTTGCATGTTGGCTCACATGCATATGTACCTTAAAGGTGTATATCAGGCACCTTATCTTTTCACAGACTTGTTTCCTACCAGTGGCATTTGCATGATTGGGTTGGATATGTGAATATGGTTTTGGGGTTCATAAATGTTAACTTCTTGTTCTTATTTTTAAAAATGTTATAATACTGTGTTAATTGTTTTTAATCATAGTCTTGGAGGAGGAACTTTTTTTGGTCTCTGCTGTCTTCCTACTGGCTGTACCACTTTTGAAGAAGCTCTTGAAATGGCATCTCGTGGAGATAGCACCAAAGTGGATAAACTAGTACGAGATATTTATGGAGGGGACTATGAGAGGTTTGGACTGCCAGGCTGGGCTGTGGCTTCAAGGTAAGGGGGCATGTGTGTTCTAAGAAATACAGGCGGGCCGGGCGCGGTGGCTCATGCCTTTAATCCCAAAACTTTGAGAGGCCGAGATGGGCAGATCATGAGGTCAGGAGTTTGAGACCAGCCTGGCCAACATAGTGTAACCCTGTCTCTACTAAAAATACAAAAATTAGCTAGGCATGGTGGTGCGCGCCTGTAGACCCAGGTACTTGGGAGGCTGAGGCAGGAGAATCACTTGAACCCTGGAGGTGGAGGGTGCGGTGAGCTCCAGCCTAGGTAACGGAGTGAGACTCTGTCTCAAAAAAAAAAAAAAAAAAAAAAAAGACATAAAATAATAATATTGGGCATATTTTTTAAAAAAGCTCTATTGAGATATAATTTACGTACTATAAAGTCAGCTGTTTGAAGCGTACAATTTAGTGGTTTCTAGTATATTTACAGGATTGTGCAACCATCACTGTAATCCCAATTTTAGGACATTTTTATCATCCTAGAAAGAAACCTTGTGTTCATTAGCTACGACTCTCCATTCCCCCCACAGCCCCTGCCAAACAGTAATTTATTTTCAATGTAGGTTTGCCTCTTCTGAACATTTCATATAAGTGGTATCATACAGTATATGATCTTTTGTGATTACTTCTTCATATAGCATATGTTTTCAAACATTCACATTACAGTGTGAATCAGTACTTTATTCCTTTTTATTGCCAAATAATATTTCTTTTTTCTGAGACGGCGTTTTACTCTTTTTGCCCAGGCTGGAGTGCAATGGCGTGATCTCGGCTCACCACAACCCCCACCTCCCAGGTTCAAGCAATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGCATGCGCCACCAAGCCTGGCTAATTTTGTATTTTTTAGTAGGGAAAGGATTTCTCCATGTTGGCCGGGCAGGTCTCGAACTCAGGTGATCTGCCGCCTCAGCCTCCCAAAGTGCTAGGATTACAGGTGTGAGCCACCGCGCCCGGCTGCCACATAATATTTCATTACGTGGATAATACTACATTTTATCCATTTATTGGTTGATGAACATTTGGGTTGTTTCCATTTTTTGGTTATAATGTTGAACATTTATATGTAAGTCTTTGTATGTATGCACACACACACACACATATATATATATATATTTTTTTTTTTTTTTTGAGACGGAGTCTTGGTCTGTCGCCCAGGCTGGAGTGCAGTGGCGTGATCTCGGCTCACTGCAAGCTCTAGCTCCTGGGTTCATGCCATTCTTCTGCTTCAGCCTTCCAAGTAGCTGGGACTACAGGTGCCTGCCACCACGCCCGGCTATTTTTTTTGTATTTTTAGCAGAGATGGGGTTTCACTATGTTGGCCAGGATGGTCTCGATCTGCTGACCTCATGATCCGCCCGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACTGCGCCTGGCCTGCACATATATTTCTAATTCTATTGGGTATATACCTGAGAGTAGAATTGCTGAGTCATATGGTCACTTAATGTTTAATCTTTTGAGGAACTGCTACACTGTTTTCCAAAGTGGCAGTCCCATTTTACAATCTTAGCAGTTTATGAGCGTTTATATTTCTTGTCAACATTTGTTATTATCTGTCTTCTTGGTTTTAGTTGTCTTAATAGGAGTGAAGTGATATCTTGTAGCGTTTTTATTTTTTAAGAGGCAGGGTCTCGCCCTGTTGCCCACATGAGAGTGCAGTGTTGCGATCATAACTGGCTGCAGCCTGTGTCTCCTGGGCTCAGGTGTTTCTCCTGCCTCAGTCTCCTGAGTCACTAGGACTACAGCTGTGCACTGCCTTGCCTAATTTTTTTTTTGTAGAGATAGGGTCTTGCTATGTTGCCTAGGCTGTCCTGGCCTCAAGTGATCCTC
Task1_train_27665
Given this variant in gene PANK2 (pantothenate kinase 2) on Chromosome 20, classify it as benign or pathogenic. Include the disorder it may cause if applicable.
Pathogenic; Retinitis pigmentosa
CTGTGAGTGCACTTTCATGGTTGTTTCACGTAGTGGGGATGCCTTATTGAATGGAATTTTTGTTTCTGTTGGCTTATTAAAAAGTCTGAGTACATTCTTATTTCATTACAGATAGGTGATCTTCAGCTTTGCAAACTGGATGAACTAGATTGCTTGATCAAAGGAATTTTATACATTGACTCAGTCGGATTCAATGGACGGTCACAGTGCTATTACTTTGAAAACCCTGCTGATTCTGAAAAGTGTCAGAAGTTACCATTTGATTTGAAAAATCCGTATCCTCTGCTTCTGGTGAACATTGGCTCAGGGGTTAGCATCTTAGCAGTATATTCCAAAGATAATTACAAACGGGTCACAGGTACTAGGTAAGTTGTATATAAAACTCACTGTTTATTCTTAGTATCCTAACGGGCTGAGTTTTCAGGTATTACATGTAACTACACCTTCAAGAACCTGTTAGGTGAAAGTGTTTCTGGATTATGCAAACAAATGTTTCTCTTTGAAAATTCTGATTTTATGACCTAGTTTTCTTTAATCTCTACTGTTCAAGATTTATTATCCTAGGTGTTTCTTAAAAGATCACATCAGCAGACTCATTGTAGCCTTTGCCCTCAGATAGTTTATGGTGTGCATACACAAAGTAGCTAAAGTTATTAGGCAGCATCTGTAAGGAGAAGGCACGGGAAAGGACCTAGCTCTGAAACCTGTGTAAATTTCATGCTTCCACACACATGTGTGTGTAGAATAATGATGTATTCTATGTATGTGATTTAGAAGTTGATATGTACTGATCAGTAGAAAAATTATTGAGGGAAGGTAGTATGAAAAGAGAGGATTAGCCGGGCGTGGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCTGGGGCGGGTGGATCATGAGGTCAGGAGTTCAAGACCAGCCTGGCCAACATGGTGAAACCCCATCTCTACTAAAAATACAAAAATTAGCCGGGCGCAGTGGCAGGCGCCTGTGAATCCCAGCTACTCGGGAGGCTGAGGTGGGAGAATTGCTTGAATTCAGAGGGTGGAGGTTGCAGTAAGCCGAGATTATGCCACTGCACTCCAGCCTGGGTGACAGAGTGAGACTCCGTCTCAAAAAAAAAAGAAAAGAGAGTATTAGGGCCAGGCACGGCAGCTTATGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGTGGATCACCAGAGGTCGGGAGTTCGAGACCAGCCTGGCCAACATGGAGAAACCCCATCTCTACTAAAAATACAAAATTAGCCGGGCGTGGTGGCACATGCCTGTAATCCCATATACTTGGGAGGCTGAGGCAGAAAAATCACTTGAACCAGGAGGCAAAGGTTGCGGTGAGCCGAGATCGTGCCATTGTACTCTAGCCTGGGCAAAAAGAGCTAAACTCCATCTCAAAAAAAAAAAATGAGGATTAGATGGAAGAAGAGAATGTTTCGGCTTAAGGGTCAGAGGTCACTTCAGGAAAAACAGGCATCTAGGGATTGGGATAAACAATTTTTTTAAAAAAACAGTTGTGATTTAAATAGAGGAGTAATTTTTTTGTGACAAAACACGTTGCAGGAGGAGTATGTTTGGGGGTGTACTGATAAGCCAGGGTGACAAGGTGCTTGGATGAGAATGACTCAGGGAATGTACTTGGAGAAGGGAAAGGGAGGAGGTGTTAGCATGGCCCCAGGCGTGTCAGGCTAATTTGCACCTGAGGCTCTTCATACTTGGCAGACAGCCAGACTGCACTGGGGACATGGGCCCTGTGTTTTGTACTTTGCATGTTGGCTCACATGCATATGTACCTTAAAGGTGTATATCAGGCACCTTATCTTTTCACAGACTTGTTTCCTACCAGTGGCATTTGCATGATTGGGTTGGATATGTGAATATGGTTTTGGGGTTCATAAATGTTAACTTCTTGTTCTTATTTTTAAAAATGTTATAATACTGTGTTAATTGTTTTTAATCATAGTCTTGGAGGAGGAACTTTTTTTGGTCTCTGCTGTCTTCTTACTGGCTGTACCACTTTTGAAGAAGCTCTTGAAATGGCATCTCGTGGAGATAGCACCAAAGTGGATAAACTAGTACGAGATATTTATGGAGGGGACTATGAGAGGTTTGGACTGCCAGGCTGGGCTGTGGCTTCAAGGTAAGGGGGCATGTGTGTTCTAAGAAATACAGGCGGGCCGGGCGCGGTGGCTCATGCCTTTAATCCCAAAACTTTGAGAGGCCGAGATGGGCAGATCATGAGGTCAGGAGTTTGAGACCAGCCTGGCCAACATAGTGTAACCCTGTCTCTACTAAAAATACAAAAATTAGCTAGGCATGGTGGTGCGCGCCTGTAGACCCAGGTACTTGGGAGGCTGAGGCAGGAGAATCACTTGAACCCTGGAGGTGGAGGGTGCGGTGAGCTCCAGCCTAGGTAACGGAGTGAGACTCTGTCTCAAAAAAAAAAAAAAAAAAAAAAAAGACATAAAATAATAATATTGGGCATATTTTTTAAAAAAGCTCTATTGAGATATAATTTACGTACTATAAAGTCAGCTGTTTGAAGCGTACAATTTAGTGGTTTCTAGTATATTTACAGGATTGTGCAACCATCACTGTAATCCCAATTTTAGGACATTTTTATCATCCTAGAAAGAAACCTTGTGTTCATTAGCTACGACTCTCCATTCCCCCCACAGCCCCTGCCAAACAGTAATTTATTTTCAATGTAGGTTTGCCTCTTCTGAACATTTCATATAAGTGGTATCATACAGTATATGATCTTTTGTGATTACTTCTTCATATAGCATATGTTTTCAAACATTCACATTACAGTGTGAATCAGTACTTTATTCCTTTTTATTGCCAAATAATATTTCTTTTTTCTGAGACGGCGTTTTACTCTTTTTGCCCAGGCTGGAGTGCAATGGCGTGATCTCGGCTCACCACAACCCCCACCTCCCAGGTTCAAGCAATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGCATGCGCCACCAAGCCTGGCTAATTTTGTATTTTTTAGTAGGGAAAGGATTTCTCCATGTTGGCCGGGCAGGTCTCGAACTCAGGTGATCTGCCGCCTCAGCCTCCCAAAGTGCTAGGATTACAGGTGTGAGCCACCGCGCCCGGCTGCCACATAATATTTCATTACGTGGATAATACTACATTTTATCCATTTATTGGTTGATGAACATTTGGGTTGTTTCCATTTTTTGGTTATAATGTTGAACATTTATATGTAAGTCTTTGTATGTATGCACACACACACACACATATATATATATATATTTTTTTTTTTTTTTTGAGACGGAGTCTTGGTCTGTCGCCCAGGCTGGAGTGCAGTGGCGTGATCTCGGCTCACTGCAAGCTCTAGCTCCTGGGTTCATGCCATTCTTCTGCTTCAGCCTTCCAAGTAGCTGGGACTACAGGTGCCTGCCACCACGCCCGGCTATTTTTTTTGTATTTTTAGCAGAGATGGGGTTTCACTATGTTGGCCAGGATGGTCTCGATCTGCTGACCTCATGATCCGCCCGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACTGCGCCTGGCCTGCACATATATTTCTAATTCTATTGGGTATATACCTGAGAGTAGAATTGCTGAGTCATATGGTCACTTAATGTTTAATCTTTTGAGGAACTGCTACACTGTTTTCCAAAGTGGCAGTCCCATTTTACAATCTTAGCAGTTTATGAGCGTTTATATTTCTTGTCAACATTTGTTATTATCTGTCTTCTTGGTTTTAGTTGTCTTAATAGGAGTGAAGTGATATCTTGTAGCGTTTTTATTTTTTAAGAGGCAGGGTCTCGCCCTGTTGCCCACATGAGAGTGCAGTGTTGCGATCATAACTGGCTGCAGCCTGTGTCTCCTGGGCTCAGGTGTTTCTCCTGCCTCAGTCTCCTGAGTCACTAGGACTACAGCTGTGCACTGCCTTGCCTAATTTTTTTTTTGTAGAGATAGGGTCTTGCTATGTTGCCTAGGCTGTCCTGGCCTCAAGTGATCCTCCCACCTTGGCTTCCCAAC
CTGTGAGTGCACTTTCATGGTTGTTTCACGTAGTGGGGATGCCTTATTGAATGGAATTTTTGTTTCTGTTGGCTTATTAAAAAGTCTGAGTACATTCTTATTTCATTACAGATAGGTGATCTTCAGCTTTGCAAACTGGATGAACTAGATTGCTTGATCAAAGGAATTTTATACATTGACTCAGTCGGATTCAATGGACGGTCACAGTGCTATTACTTTGAAAACCCTGCTGATTCTGAAAAGTGTCAGAAGTTACCATTTGATTTGAAAAATCCGTATCCTCTGCTTCTGGTGAACATTGGCTCAGGGGTTAGCATCTTAGCAGTATATTCCAAAGATAATTACAAACGGGTCACAGGTACTAGGTAAGTTGTATATAAAACTCACTGTTTATTCTTAGTATCCTAACGGGCTGAGTTTTCAGGTATTACATGTAACTACACCTTCAAGAACCTGTTAGGTGAAAGTGTTTCTGGATTATGCAAACAAATGTTTCTCTTTGAAAATTCTGATTTTATGACCTAGTTTTCTTTAATCTCTACTGTTCAAGATTTATTATCCTAGGTGTTTCTTAAAAGATCACATCAGCAGACTCATTGTAGCCTTTGCCCTCAGATAGTTTATGGTGTGCATACACAAAGTAGCTAAAGTTATTAGGCAGCATCTGTAAGGAGAAGGCACGGGAAAGGACCTAGCTCTGAAACCTGTGTAAATTTCATGCTTCCACACACATGTGTGTGTAGAATAATGATGTATTCTATGTATGTGATTTAGAAGTTGATATGTACTGATCAGTAGAAAAATTATTGAGGGAAGGTAGTATGAAAAGAGAGGATTAGCCGGGCGTGGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCTGGGGCGGGTGGATCATGAGGTCAGGAGTTCAAGACCAGCCTGGCCAACATGGTGAAACCCCATCTCTACTAAAAATACAAAAATTAGCCGGGCGCAGTGGCAGGCGCCTGTGAATCCCAGCTACTCGGGAGGCTGAGGTGGGAGAATTGCTTGAATTCAGAGGGTGGAGGTTGCAGTAAGCCGAGATTATGCCACTGCACTCCAGCCTGGGTGACAGAGTGAGACTCCGTCTCAAAAAAAAAAGAAAAGAGAGTATTAGGGCCAGGCACGGCAGCTTATGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGTGGATCACCAGAGGTCGGGAGTTCGAGACCAGCCTGGCCAACATGGAGAAACCCCATCTCTACTAAAAATACAAAATTAGCCGGGCGTGGTGGCACATGCCTGTAATCCCATATACTTGGGAGGCTGAGGCAGAAAAATCACTTGAACCAGGAGGCAAAGGTTGCGGTGAGCCGAGATCGTGCCATTGTACTCTAGCCTGGGCAAAAAGAGCTAAACTCCATCTCAAAAAAAAAAAATGAGGATTAGATGGAAGAAGAGAATGTTTCGGCTTAAGGGTCAGAGGTCACTTCAGGAAAAACAGGCATCTAGGGATTGGGATAAACAATTTTTTTAAAAAAACAGTTGTGATTTAAATAGAGGAGTAATTTTTTTGTGACAAAACACGTTGCAGGAGGAGTATGTTTGGGGGTGTACTGATAAGCCAGGGTGACAAGGTGCTTGGATGAGAATGACTCAGGGAATGTACTTGGAGAAGGGAAAGGGAGGAGGTGTTAGCATGGCCCCAGGCGTGTCAGGCTAATTTGCACCTGAGGCTCTTCATACTTGGCAGACAGCCAGACTGCACTGGGGACATGGGCCCTGTGTTTTGTACTTTGCATGTTGGCTCACATGCATATGTACCTTAAAGGTGTATATCAGGCACCTTATCTTTTCACAGACTTGTTTCCTACCAGTGGCATTTGCATGATTGGGTTGGATATGTGAATATGGTTTTGGGGTTCATAAATGTTAACTTCTTGTTCTTATTTTTAAAAATGTTATAATACTGTGTTAATTGTTTTTAATCATAGTCTTGGAGGAGGAACTTTTTTTGGTCTCTGCTGTCTTCTTACTGGCTGTACCACTTCTGAAGAAGCTCTTGAAATGGCATCTCGTGGAGATAGCACCAAAGTGGATAAACTAGTACGAGATATTTATGGAGGGGACTATGAGAGGTTTGGACTGCCAGGCTGGGCTGTGGCTTCAAGGTAAGGGGGCATGTGTGTTCTAAGAAATACAGGCGGGCCGGGCGCGGTGGCTCATGCCTTTAATCCCAAAACTTTGAGAGGCCGAGATGGGCAGATCATGAGGTCAGGAGTTTGAGACCAGCCTGGCCAACATAGTGTAACCCTGTCTCTACTAAAAATACAAAAATTAGCTAGGCATGGTGGTGCGCGCCTGTAGACCCAGGTACTTGGGAGGCTGAGGCAGGAGAATCACTTGAACCCTGGAGGTGGAGGGTGCGGTGAGCTCCAGCCTAGGTAACGGAGTGAGACTCTGTCTCAAAAAAAAAAAAAAAAAAAAAAAAGACATAAAATAATAATATTGGGCATATTTTTTAAAAAAGCTCTATTGAGATATAATTTACGTACTATAAAGTCAGCTGTTTGAAGCGTACAATTTAGTGGTTTCTAGTATATTTACAGGATTGTGCAACCATCACTGTAATCCCAATTTTAGGACATTTTTATCATCCTAGAAAGAAACCTTGTGTTCATTAGCTACGACTCTCCATTCCCCCCACAGCCCCTGCCAAACAGTAATTTATTTTCAATGTAGGTTTGCCTCTTCTGAACATTTCATATAAGTGGTATCATACAGTATATGATCTTTTGTGATTACTTCTTCATATAGCATATGTTTTCAAACATTCACATTACAGTGTGAATCAGTACTTTATTCCTTTTTATTGCCAAATAATATTTCTTTTTTCTGAGACGGCGTTTTACTCTTTTTGCCCAGGCTGGAGTGCAATGGCGTGATCTCGGCTCACCACAACCCCCACCTCCCAGGTTCAAGCAATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGCATGCGCCACCAAGCCTGGCTAATTTTGTATTTTTTAGTAGGGAAAGGATTTCTCCATGTTGGCCGGGCAGGTCTCGAACTCAGGTGATCTGCCGCCTCAGCCTCCCAAAGTGCTAGGATTACAGGTGTGAGCCACCGCGCCCGGCTGCCACATAATATTTCATTACGTGGATAATACTACATTTTATCCATTTATTGGTTGATGAACATTTGGGTTGTTTCCATTTTTTGGTTATAATGTTGAACATTTATATGTAAGTCTTTGTATGTATGCACACACACACACACATATATATATATATATTTTTTTTTTTTTTTTGAGACGGAGTCTTGGTCTGTCGCCCAGGCTGGAGTGCAGTGGCGTGATCTCGGCTCACTGCAAGCTCTAGCTCCTGGGTTCATGCCATTCTTCTGCTTCAGCCTTCCAAGTAGCTGGGACTACAGGTGCCTGCCACCACGCCCGGCTATTTTTTTTGTATTTTTAGCAGAGATGGGGTTTCACTATGTTGGCCAGGATGGTCTCGATCTGCTGACCTCATGATCCGCCCGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACTGCGCCTGGCCTGCACATATATTTCTAATTCTATTGGGTATATACCTGAGAGTAGAATTGCTGAGTCATATGGTCACTTAATGTTTAATCTTTTGAGGAACTGCTACACTGTTTTCCAAAGTGGCAGTCCCATTTTACAATCTTAGCAGTTTATGAGCGTTTATATTTCTTGTCAACATTTGTTATTATCTGTCTTCTTGGTTTTAGTTGTCTTAATAGGAGTGAAGTGATATCTTGTAGCGTTTTTATTTTTTAAGAGGCAGGGTCTCGCCCTGTTGCCCACATGAGAGTGCAGTGTTGCGATCATAACTGGCTGCAGCCTGTGTCTCCTGGGCTCAGGTGTTTCTCCTGCCTCAGTCTCCTGAGTCACTAGGACTACAGCTGTGCACTGCCTTGCCTAATTTTTTTTTTGTAGAGATAGGGTCTTGCTATGTTGCCTAGGCTGTCCTGGCCTCAAGTGATCCTCCCACCTTGGCTTCCCAAC
Task1_train_27666
A mutation on Chromosome 20 affecting PANK2 (pantothenate kinase 2) has been found. Is it harmful or harmless? What disease, if any, does it cause?
Pathogenic; Pigmentary pallidal degeneration
GGTTGTTTCACGTAGTGGGGATGCCTTATTGAATGGAATTTTTGTTTCTGTTGGCTTATTAAAAAGTCTGAGTACATTCTTATTTCATTACAGATAGGTGATCTTCAGCTTTGCAAACTGGATGAACTAGATTGCTTGATCAAAGGAATTTTATACATTGACTCAGTCGGATTCAATGGACGGTCACAGTGCTATTACTTTGAAAACCCTGCTGATTCTGAAAAGTGTCAGAAGTTACCATTTGATTTGAAAAATCCGTATCCTCTGCTTCTGGTGAACATTGGCTCAGGGGTTAGCATCTTAGCAGTATATTCCAAAGATAATTACAAACGGGTCACAGGTACTAGGTAAGTTGTATATAAAACTCACTGTTTATTCTTAGTATCCTAACGGGCTGAGTTTTCAGGTATTACATGTAACTACACCTTCAAGAACCTGTTAGGTGAAAGTGTTTCTGGATTATGCAAACAAATGTTTCTCTTTGAAAATTCTGATTTTATGACCTAGTTTTCTTTAATCTCTACTGTTCAAGATTTATTATCCTAGGTGTTTCTTAAAAGATCACATCAGCAGACTCATTGTAGCCTTTGCCCTCAGATAGTTTATGGTGTGCATACACAAAGTAGCTAAAGTTATTAGGCAGCATCTGTAAGGAGAAGGCACGGGAAAGGACCTAGCTCTGAAACCTGTGTAAATTTCATGCTTCCACACACATGTGTGTGTAGAATAATGATGTATTCTATGTATGTGATTTAGAAGTTGATATGTACTGATCAGTAGAAAAATTATTGAGGGAAGGTAGTATGAAAAGAGAGGATTAGCCGGGCGTGGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCTGGGGCGGGTGGATCATGAGGTCAGGAGTTCAAGACCAGCCTGGCCAACATGGTGAAACCCCATCTCTACTAAAAATACAAAAATTAGCCGGGCGCAGTGGCAGGCGCCTGTGAATCCCAGCTACTCGGGAGGCTGAGGTGGGAGAATTGCTTGAATTCAGAGGGTGGAGGTTGCAGTAAGCCGAGATTATGCCACTGCACTCCAGCCTGGGTGACAGAGTGAGACTCCGTCTCAAAAAAAAAAGAAAAGAGAGTATTAGGGCCAGGCACGGCAGCTTATGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGTGGATCACCAGAGGTCGGGAGTTCGAGACCAGCCTGGCCAACATGGAGAAACCCCATCTCTACTAAAAATACAAAATTAGCCGGGCGTGGTGGCACATGCCTGTAATCCCATATACTTGGGAGGCTGAGGCAGAAAAATCACTTGAACCAGGAGGCAAAGGTTGCGGTGAGCCGAGATCGTGCCATTGTACTCTAGCCTGGGCAAAAAGAGCTAAACTCCATCTCAAAAAAAAAAAATGAGGATTAGATGGAAGAAGAGAATGTTTCGGCTTAAGGGTCAGAGGTCACTTCAGGAAAAACAGGCATCTAGGGATTGGGATAAACAATTTTTTTAAAAAAACAGTTGTGATTTAAATAGAGGAGTAATTTTTTTGTGACAAAACACGTTGCAGGAGGAGTATGTTTGGGGGTGTACTGATAAGCCAGGGTGACAAGGTGCTTGGATGAGAATGACTCAGGGAATGTACTTGGAGAAGGGAAAGGGAGGAGGTGTTAGCATGGCCCCAGGCGTGTCAGGCTAATTTGCACCTGAGGCTCTTCATACTTGGCAGACAGCCAGACTGCACTGGGGACATGGGCCCTGTGTTTTGTACTTTGCATGTTGGCTCACATGCATATGTACCTTAAAGGTGTATATCAGGCACCTTATCTTTTCACAGACTTGTTTCCTACCAGTGGCATTTGCATGATTGGGTTGGATATGTGAATATGGTTTTGGGGTTCATAAATGTTAACTTCTTGTTCTTATTTTTAAAAATGTTATAATACTGTGTTAATTGTTTTTAATCATAGTCTTGGAGGAGGAACTTTTTTTGGTCTCTGCTGTCTTCTTACTGGCTGTACCACTTTTGAAGAAGCTCTTGAAATGGCATCTCGTGGAGATAGCACCAAAGTGGATAAACTAGTACGAGATATTTATGGAGGGGACTATGAGAGGTTTGGACTGCCAGGCTGGGCTGTGGCTTCAAGGTAAGGGGGCATGTGTGTTCTAAGAAATACAGGCGGGCCGGGCGCGGTGGCTCATGCCTTTAATCCCAAAACTTTGAGAGGCCGAGATGGGCAGATCATGAGGTCAGGAGTTTGAGACCAGCCTGGCCAACATAGTGTAACCCTGTCTCTACTAAAAATACAAAAATTAGCTAGGCATGGTGGTGCGCGCCTGTAGACCCAGGTACTTGGGAGGCTGAGGCAGGAGAATCACTTGAACCCTGGAGGTGGAGGGTGCGGTGAGCTCCAGCCTAGGTAACGGAGTGAGACTCTGTCTCAAAAAAAAAAAAAAAAAAAAAAAAGACATAAAATAATAATATTGGGCATATTTTTTAAAAAAGCTCTATTGAGATATAATTTACGTACTATAAAGTCAGCTGTTTGAAGCGTACAATTTAGTGGTTTCTAGTATATTTACAGGATTGTGCAACCATCACTGTAATCCCAATTTTAGGACATTTTTATCATCCTAGAAAGAAACCTTGTGTTCATTAGCTACGACTCTCCATTCCCCCCACAGCCCCTGCCAAACAGTAATTTATTTTCAATGTAGGTTTGCCTCTTCTGAACATTTCATATAAGTGGTATCATACAGTATATGATCTTTTGTGATTACTTCTTCATATAGCATATGTTTTCAAACATTCACATTACAGTGTGAATCAGTACTTTATTCCTTTTTATTGCCAAATAATATTTCTTTTTTCTGAGACGGCGTTTTACTCTTTTTGCCCAGGCTGGAGTGCAATGGCGTGATCTCGGCTCACCACAACCCCCACCTCCCAGGTTCAAGCAATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGCATGCGCCACCAAGCCTGGCTAATTTTGTATTTTTTAGTAGGGAAAGGATTTCTCCATGTTGGCCGGGCAGGTCTCGAACTCAGGTGATCTGCCGCCTCAGCCTCCCAAAGTGCTAGGATTACAGGTGTGAGCCACCGCGCCCGGCTGCCACATAATATTTCATTACGTGGATAATACTACATTTTATCCATTTATTGGTTGATGAACATTTGGGTTGTTTCCATTTTTTGGTTATAATGTTGAACATTTATATGTAAGTCTTTGTATGTATGCACACACACACACACATATATATATATATATTTTTTTTTTTTTTTTGAGACGGAGTCTTGGTCTGTCGCCCAGGCTGGAGTGCAGTGGCGTGATCTCGGCTCACTGCAAGCTCTAGCTCCTGGGTTCATGCCATTCTTCTGCTTCAGCCTTCCAAGTAGCTGGGACTACAGGTGCCTGCCACCACGCCCGGCTATTTTTTTTGTATTTTTAGCAGAGATGGGGTTTCACTATGTTGGCCAGGATGGTCTCGATCTGCTGACCTCATGATCCGCCCGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACTGCGCCTGGCCTGCACATATATTTCTAATTCTATTGGGTATATACCTGAGAGTAGAATTGCTGAGTCATATGGTCACTTAATGTTTAATCTTTTGAGGAACTGCTACACTGTTTTCCAAAGTGGCAGTCCCATTTTACAATCTTAGCAGTTTATGAGCGTTTATATTTCTTGTCAACATTTGTTATTATCTGTCTTCTTGGTTTTAGTTGTCTTAATAGGAGTGAAGTGATATCTTGTAGCGTTTTTATTTTTTAAGAGGCAGGGTCTCGCCCTGTTGCCCACATGAGAGTGCAGTGTTGCGATCATAACTGGCTGCAGCCTGTGTCTCCTGGGCTCAGGTGTTTCTCCTGCCTCAGTCTCCTGAGTCACTAGGACTACAGCTGTGCACTGCCTTGCCTAATTTTTTTTTTGTAGAGATAGGGTCTTGCTATGTTGCCTAGGCTGTCCTGGCCTCAAGTGATCCTCCCACCTTGGCTTCCCAACATGTTGGGATTACAGGTG
GGTTGTTTCACGTAGTGGGGATGCCTTATTGAATGGAATTTTTGTTTCTGTTGGCTTATTAAAAAGTCTGAGTACATTCTTATTTCATTACAGATAGGTGATCTTCAGCTTTGCAAACTGGATGAACTAGATTGCTTGATCAAAGGAATTTTATACATTGACTCAGTCGGATTCAATGGACGGTCACAGTGCTATTACTTTGAAAACCCTGCTGATTCTGAAAAGTGTCAGAAGTTACCATTTGATTTGAAAAATCCGTATCCTCTGCTTCTGGTGAACATTGGCTCAGGGGTTAGCATCTTAGCAGTATATTCCAAAGATAATTACAAACGGGTCACAGGTACTAGGTAAGTTGTATATAAAACTCACTGTTTATTCTTAGTATCCTAACGGGCTGAGTTTTCAGGTATTACATGTAACTACACCTTCAAGAACCTGTTAGGTGAAAGTGTTTCTGGATTATGCAAACAAATGTTTCTCTTTGAAAATTCTGATTTTATGACCTAGTTTTCTTTAATCTCTACTGTTCAAGATTTATTATCCTAGGTGTTTCTTAAAAGATCACATCAGCAGACTCATTGTAGCCTTTGCCCTCAGATAGTTTATGGTGTGCATACACAAAGTAGCTAAAGTTATTAGGCAGCATCTGTAAGGAGAAGGCACGGGAAAGGACCTAGCTCTGAAACCTGTGTAAATTTCATGCTTCCACACACATGTGTGTGTAGAATAATGATGTATTCTATGTATGTGATTTAGAAGTTGATATGTACTGATCAGTAGAAAAATTATTGAGGGAAGGTAGTATGAAAAGAGAGGATTAGCCGGGCGTGGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCTGGGGCGGGTGGATCATGAGGTCAGGAGTTCAAGACCAGCCTGGCCAACATGGTGAAACCCCATCTCTACTAAAAATACAAAAATTAGCCGGGCGCAGTGGCAGGCGCCTGTGAATCCCAGCTACTCGGGAGGCTGAGGTGGGAGAATTGCTTGAATTCAGAGGGTGGAGGTTGCAGTAAGCCGAGATTATGCCACTGCACTCCAGCCTGGGTGACAGAGTGAGACTCCGTCTCAAAAAAAAAAGAAAAGAGAGTATTAGGGCCAGGCACGGCAGCTTATGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGTGGATCACCAGAGGTCGGGAGTTCGAGACCAGCCTGGCCAACATGGAGAAACCCCATCTCTACTAAAAATACAAAATTAGCCGGGCGTGGTGGCACATGCCTGTAATCCCATATACTTGGGAGGCTGAGGCAGAAAAATCACTTGAACCAGGAGGCAAAGGTTGCGGTGAGCCGAGATCGTGCCATTGTACTCTAGCCTGGGCAAAAAGAGCTAAACTCCATCTCAAAAAAAAAAAATGAGGATTAGATGGAAGAAGAGAATGTTTCGGCTTAAGGGTCAGAGGTCACTTCAGGAAAAACAGGCATCTAGGGATTGGGATAAACAATTTTTTTAAAAAAACAGTTGTGATTTAAATAGAGGAGTAATTTTTTTGTGACAAAACACGTTGCAGGAGGAGTATGTTTGGGGGTGTACTGATAAGCCAGGGTGACAAGGTGCTTGGATGAGAATGACTCAGGGAATGTACTTGGAGAAGGGAAAGGGAGGAGGTGTTAGCATGGCCCCAGGCGTGTCAGGCTAATTTGCACCTGAGGCTCTTCATACTTGGCAGACAGCCAGACTGCACTGGGGACATGGGCCCTGTGTTTTGTACTTTGCATGTTGGCTCACATGCATATGTACCTTAAAGGTGTATATCAGGCACCTTATCTTTTCACAGACTTGTTTCCTACCAGTGGCATTTGCATGATTGGGTTGGATATGTGAATATGGTTTTGGGGTTCATAAATGTTAACTTCTTGTTCTTATTTTTAAAAATGTTATAATACTGTGTTAATTGTTTTTAATCATAGTCTTGGAGGAGGAACTTTTTTTGGTCTCTGCTGTCTTCTTACTGGCTGTACCACTTTTGAAGAAGCTCTTGAAACGGCATCTCGTGGAGATAGCACCAAAGTGGATAAACTAGTACGAGATATTTATGGAGGGGACTATGAGAGGTTTGGACTGCCAGGCTGGGCTGTGGCTTCAAGGTAAGGGGGCATGTGTGTTCTAAGAAATACAGGCGGGCCGGGCGCGGTGGCTCATGCCTTTAATCCCAAAACTTTGAGAGGCCGAGATGGGCAGATCATGAGGTCAGGAGTTTGAGACCAGCCTGGCCAACATAGTGTAACCCTGTCTCTACTAAAAATACAAAAATTAGCTAGGCATGGTGGTGCGCGCCTGTAGACCCAGGTACTTGGGAGGCTGAGGCAGGAGAATCACTTGAACCCTGGAGGTGGAGGGTGCGGTGAGCTCCAGCCTAGGTAACGGAGTGAGACTCTGTCTCAAAAAAAAAAAAAAAAAAAAAAAAGACATAAAATAATAATATTGGGCATATTTTTTAAAAAAGCTCTATTGAGATATAATTTACGTACTATAAAGTCAGCTGTTTGAAGCGTACAATTTAGTGGTTTCTAGTATATTTACAGGATTGTGCAACCATCACTGTAATCCCAATTTTAGGACATTTTTATCATCCTAGAAAGAAACCTTGTGTTCATTAGCTACGACTCTCCATTCCCCCCACAGCCCCTGCCAAACAGTAATTTATTTTCAATGTAGGTTTGCCTCTTCTGAACATTTCATATAAGTGGTATCATACAGTATATGATCTTTTGTGATTACTTCTTCATATAGCATATGTTTTCAAACATTCACATTACAGTGTGAATCAGTACTTTATTCCTTTTTATTGCCAAATAATATTTCTTTTTTCTGAGACGGCGTTTTACTCTTTTTGCCCAGGCTGGAGTGCAATGGCGTGATCTCGGCTCACCACAACCCCCACCTCCCAGGTTCAAGCAATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGCATGCGCCACCAAGCCTGGCTAATTTTGTATTTTTTAGTAGGGAAAGGATTTCTCCATGTTGGCCGGGCAGGTCTCGAACTCAGGTGATCTGCCGCCTCAGCCTCCCAAAGTGCTAGGATTACAGGTGTGAGCCACCGCGCCCGGCTGCCACATAATATTTCATTACGTGGATAATACTACATTTTATCCATTTATTGGTTGATGAACATTTGGGTTGTTTCCATTTTTTGGTTATAATGTTGAACATTTATATGTAAGTCTTTGTATGTATGCACACACACACACACATATATATATATATATTTTTTTTTTTTTTTTGAGACGGAGTCTTGGTCTGTCGCCCAGGCTGGAGTGCAGTGGCGTGATCTCGGCTCACTGCAAGCTCTAGCTCCTGGGTTCATGCCATTCTTCTGCTTCAGCCTTCCAAGTAGCTGGGACTACAGGTGCCTGCCACCACGCCCGGCTATTTTTTTTGTATTTTTAGCAGAGATGGGGTTTCACTATGTTGGCCAGGATGGTCTCGATCTGCTGACCTCATGATCCGCCCGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACTGCGCCTGGCCTGCACATATATTTCTAATTCTATTGGGTATATACCTGAGAGTAGAATTGCTGAGTCATATGGTCACTTAATGTTTAATCTTTTGAGGAACTGCTACACTGTTTTCCAAAGTGGCAGTCCCATTTTACAATCTTAGCAGTTTATGAGCGTTTATATTTCTTGTCAACATTTGTTATTATCTGTCTTCTTGGTTTTAGTTGTCTTAATAGGAGTGAAGTGATATCTTGTAGCGTTTTTATTTTTTAAGAGGCAGGGTCTCGCCCTGTTGCCCACATGAGAGTGCAGTGTTGCGATCATAACTGGCTGCAGCCTGTGTCTCCTGGGCTCAGGTGTTTCTCCTGCCTCAGTCTCCTGAGTCACTAGGACTACAGCTGTGCACTGCCTTGCCTAATTTTTTTTTTGTAGAGATAGGGTCTTGCTATGTTGCCTAGGCTGTCCTGGCCTCAAGTGATCCTCCCACCTTGGCTTCCCAACATGTTGGGATTACAGGTG
Task1_train_27667
This variant lies on Chromosome 20 and affects the gene PANK2 (pantothenate kinase 2). Based on this context, is the mutation pathogenic or benign? If pathogenic, what disease does it cause?
Pathogenic; Pigmentary pallidal degeneration
GTGAGCCACTGTGCCCAGCCCGAACATCTTTTCATGTGTTTACTGGCCATCTGTCTGTAGTCTTTGGATAAATGTCTGCTGAAGTCTATTGCTAAGTTTTTAGTTGGATTGTCTTTTTATTATTGAGTTCTGGATACAAGTCCCTTATTAGATACATAATTCGCAAATGTTTTGTCCCATTTTGTTAGTTGTCTTTTCACTTCCTTGATGGTGTCCTTTGCAGCATGGAAATTTTAAATTTTGATGAAGTTAATCTTATCTATCTTCTGTCACTTGTGCTTTTGGTGTTATGTGTAAGAAATCTAAGATCATGAAGAATTGCCTAATTTAAGATCATGAAGAATTGTTTATTTTCTTTTAAGAGTTTTATAGTTTTAGCTCATATATATATATGTGTGTGTGTGTATTTTTTTCTTTTTTTCTTTTTTGAGATGGAGTCTTGCTCTGTCACCAGGCTGGAGTGCAGTGGTGCGATCTCGGCTCACTGCAACCTCCACCTCCCGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGACTACAGTGCGTGCCGCCACACCCAGCTAATTTTTGTATTTTTAGTAGAGACAGGGTTTCACCATATTGTCCAGGATGGTCTCGATCTCTTGACCTCGTGATCCGCCCACCTTGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCACGCCCGCCAGTTTTAGCTCTTATATTTAGCTCTTATATTTGATCCATTTTGAGTAAGTTTTTGTGTATGGTGTGAGGTAGAGCTCCAAGTTCATTTCTTTTTGCGTGTGGATATCCAGTTGTCCTAGTACCATTTGTTGAAAAGATGATTCTTTCCCTGTTAAATTCTCTTGGCCCCTTTGTCAAAAATTAGTTGACCATAGATGTTTGGGTTTACTCCTGGACTCTTAAGTTATGTTCCATTGATATATATGTCTGTTTTTATACCAGTACCATACTGCCTTGATACTGTAGCGTTGTATTAAGTTCTGAAGTAAGAAAGTGTGAGTCATCCAACTTGTTCTTTTTTCGAGATTATTTTGGCTATTCTGGGTACCTTGAGAATATGAATTGTAGGGTTAACTTGGCAAGGTCTGTAAATAAGACAACTGGGATTTTAATAGAGATTACATTGAATCTTTTGGCCATCCTAATACAAAGTCTTCTGATCCAAAAAGATGGAATGTCTTCCCATTGATTTAGATCTTTGCTTTCTTTCAGCAGTGTTTTGTAGATTTTATTGTACAGGTGTTAATACTTTTGTTAGATATATCCGTAAGTGTTTTATTCTCTAATGCTATTATAAATGAAATCATTGTCTCCATTTTGAGATCGTTTAGAAGTACAATTGTTTTTCGTATATTGGGGCACATGGCTTTTACTAATAGAAAAATCATATGTATACATGCTTGTTTACTAAGTTTTAGGCACTTGGTCAATGCTGTTGATTTTCTGTTTGTAACATTTGCTCGTTGGTCATCACTTCCTTTTCTGATTGGAAAATTATTGTAGCAGTTCTGCTGAGCATGTACTTTGAAGTACTTTATCTTCTAGGGAAACCTGAAATTCTTAAGCAGCTCACTCTGGGACTCAGCTGTCTGTGCTTTACTCTGCTCTGATAGAGCAGTTTACCAGATGTGCATGTGGCCATCTGAGTGGAACAGCTGTGCAGTTGAGATGAATTGCTGTTAGAGGTGTTGTCCTGGAACTGTCTGGTTGCAGGAGCAATGGTGCCTTCCAGTGCATCTGATGAGATTCTAACTGAATATGTGAATATCTGGTATCCAAGCTAGATTTCAGTAGAAACCGCAGGGAAAGCTGTCTGCTCATTTAGAATGTTGGAGGGCTCTGTTTGAAGTTTGCATTTCTCTTTGAACAGATGCTCCATTGCAAAATAAAAGGTTTGAAGATTTCAACAATGTTGCCCTAAAAGCTAATTTTATTTCAATAAAGTAACATTCAAGTTCTGTTGGGCTTTGTTGCTGTTGGTTTAGCAATGGGATTTTTTTTCCCCCATCACAGCTTTGGAAACATGATGAGCAAGGAGAAGCGAGAGGCTGTCAGTAAAGAGGACCTGGCCAGAGCGACTTTGATCACCATCACCAACAACATTGGCTCAATAGCAAGAATGTGTGCCCTTAATGAAGTAAGGGGACATGGATTTCTTTAATTGCTCTAAGGAAAATACTGAACTTAAGTGGGCCCCATCACGTCTGTTTTCTCAGAACAGTGCCTAAATGTAGTCATTTGGGGTGGGGTTTGTTTTAGCACGAAGTTAAAACTCTTCAAATACAGATTAATCTTCTTTTTTTTTTTTTTAAACTGAAGATAAACATTGCTACTTGTCTAGAGGTAAAATGACATCTTTTGAGGAGAAAGTAGAGGAAGAGTGGAAGGTAGCCAGTGTTCCAGATATTGGGGACTGTTGGGGGTGATGATGGATAACGATGCTGAATGTAGACTCCACACTCACTGCTGAGCTCTAGAGGCCCTAGGGAGGAATCCAGAGGAAGTCACGGAAGCTGGGAGAAGACTGAGCAGGCCGAGGGGTGCCCTCCTTGGCTCCCCCACCTCAGCAGAGCTGCGTCTTTGTGCTTTCAGCTTCTTTACAGTGCTGCCTTGTAGCATTCAGGTCAAGCAGCATTGTACAGGGCTATGAAAGAACCAAGAATGGGCTGCCCTTGGGAAAAGAGGATCTAGGATCCAGTTGGTGCAGCTTATGGCTTGTCCCTGTGTGTATAGTTGTTAAATTATTCTTTTATTTTTATTTTTAAGAAGTTATTCTTTAGATAATAATAGGCATGTAGCTTAAAAGGAAACCTCAAAAGACACAAAGGATTTGTCTCATTTTAAATTAAAAAAATACTGTATCAGCATCAAGTAATTAAACATTTGTTGGAATATCATAACTTCTTTTTTCTTTATTGTATGTTCCCTTTCCTGTGCTTACGTATTTTCAGAAATTTTAGTTGGTGTGCATACCACAATTTGTATTTTATACTTAAATATACATTTCATGGTTGTATATTTATTTGATCAAGTTCTTTTATATCAAATAACAGAGCTTGGCATTTGGTTGCTTGCTCATAACTCGGCAGTAAGCATTTTTAAGCATGAAGTTATTCTTTGGTTGAATTTTATTCTTGATATGGGGCTTAGGAGTGAGATTTCTGGTCTACAGAAATGATCATGCTCATGAATTTTGACATTTATCGTCATGATGCTTTGCACAAGGGCTGCACCAATTTAGATCATCTTTAGCGGTGAATGAGTGGATTAATTTTACTACAACTACTGATGGTGGTGGTGGAATTTCAGTTGCTTTTTTTTGCGAGGTTAATAGGTCTAAAATTTTACTTTTGTTTGATGACTAGTGGTTTGAATTTTTCGCTGCCTGTTATATTGCTTGTATACTTTGCCTGTTTGTGTCACTGTCCTTTTGGATTGGAGTCATACTGTTTTTTTTTGTTTATTTTAACTTATCTGTATAAAACATTGTATTCAAAACTAGTTATTGTTGGTCAGATTTAATACAAATGTTTTTCCTAATCTGTTTTCTTCTCCTGTGACATTATCTAGCATGCTTTGCAGTGGGTCCAGAGTTGTCTGGGGATCAAGTTTAAGTAGCCCTGGACCAACTGGACTAAATTTGATCAGCAGTCAAATTGTTGCTAAGAGCTATGCACATGGTGCTGTATTTGGGGTAGCTTTTATGAGAAAATAGAAATTAAGATGAAAACTAATTGCCTTTTTTTGGTGTGCTCAGAACATTAACCAGGTGGTATTTGTTGGAAATTTCTTGAGAATTAATACGATCGCCATGCGGCTTTTGGCATATGCTTTGGATTATTGGTCCAAGGGGCAGTTGAAAGCACTTTTTTCGGAACACGAGGTAAGCTGACTTGTTCGTTGTGGTATATTATGTACACAGAGGGCTTGTGGGTCACACTGTCATGGAACTTGAGGTAGAGGGTGGAGGTGAAATGGGCTGCAGTGTTTCTTTTGTTTTTTGTTTTTTTGAGACGGAGTCTCGCTCTGTCACCTAGGTTGGAGTGCGTGGCACAGTCTTGGGGCTCACTGC
GTGAGCCACTGTGCCCAGCCCGAACATCTTTTCATGTGTTTACTGGCCATCTGTCTGTAGTCTTTGGATAAATGTCTGCTGAAGTCTATTGCTAAGTTTTTAGTTGGATTGTCTTTTTATTATTGAGTTCTGGATACAAGTCCCTTATTAGATACATAATTCGCAAATGTTTTGTCCCATTTTGTTAGTTGTCTTTTCACTTCCTTGATGGTGTCCTTTGCAGCATGGAAATTTTAAATTTTGATGAAGTTAATCTTATCTATCTTCTGTCACTTGTGCTTTTGGTGTTATGTGTAAGAAATCTAAGATCATGAAGAATTGCCTAATTTAAGATCATGAAGAATTGTTTATTTTCTTTTAAGAGTTTTATAGTTTTAGCTCATATATATATATGTGTGTGTGTGTATTTTTTTCTTTTTTTCTTTTTTGAGATGGAGTCTTGCTCTGTCACCAGGCTGGAGTGCAGTGGTGCGATCTCGGCTCACTGCAACCTCCACCTCCCGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGACTACAGTGCGTGCCGCCACACCCAGCTAATTTTTGTATTTTTAGTAGAGACAGGGTTTCACCATATTGTCCAGGATGGTCTCGATCTCTTGACCTCGTGATCCGCCCACCTTGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCACGCCCGCCAGTTTTAGCTCTTATATTTAGCTCTTATATTTGATCCATTTTGAGTAAGTTTTTGTGTATGGTGTGAGGTAGAGCTCCAAGTTCATTTCTTTTTGCGTGTGGATATCCAGTTGTCCTAGTACCATTTGTTGAAAAGATGATTCTTTCCCTGTTAAATTCTCTTGGCCCCTTTGTCAAAAATTAGTTGACCATAGATGTTTGGGTTTACTCCTGGACTCTTAAGTTATGTTCCATTGATATATATGTCTGTTTTTATACCAGTACCATACTGCCTTGATACTGTAGCGTTGTATTAAGTTCTGAAGTAAGAAAGTGTGAGTCATCCAACTTGTTCTTTTTTCGAGATTATTTTGGCTATTCTGGGTACCTTGAGAATATGAATTGTAGGGTTAACTTGGCAAGGTCTGTAAATAAGACAACTGGGATTTTAATAGAGATTACATTGAATCTTTTGGCCATCCTAATACAAAGTCTTCTGATCCAAAAAGATGGAATGTCTTCCCATTGATTTAGATCTTTGCTTTCTTTCAGCAGTGTTTTGTAGATTTTATTGTACAGGTGTTAATACTTTTGTTAGATATATCCGTAAGTGTTTTATTCTCTAATGCTATTATAAATGAAATCATTGTCTCCATTTTGAGATCGTTTAGAAGTACAATTGTTTTTCGTATATTGGGGCACATGGCTTTTACTAATAGAAAAATCATATGTATACATGCTTGTTTACTAAGTTTTAGGCACTTGGTCAATGCTGTTGATTTTCTGTTTGTAACATTTGCTCGTTGGTCATCACTTCCTTTTCTGATTGGAAAATTATTGTAGCAGTTCTGCTGAGCATGTACTTTGAAGTACTTTATCTTCTAGGGAAACCTGAAATTCTTAAGCAGCTCACTCTGGGACTCAGCTGTCTGTGCTTTACTCTGCTCTGATAGAGCAGTTTACCAGATGTGCATGTGGCCATCTGAGTGGAACAGCTGTGCAGTTGAGATGAATTGCTGTTAGAGGTGTTGTCCTGGAACTGTCTGGTTGCAGGAGCAATGGTGCCTTCCAGTGCATCTGATGAGATTCTAACTGAATATGTGAATATCTGGTATCCAAGCTAGATTTCAGTAGAAACCGCAGGGAAAGCTGTCTGCTCATTTAGAATGTTGGAGGGCTCTGTTTGAAGTTTGCATTTCTCTTTGAACAGATGCTCCATTGCAAAATAAAAGGTTTGAAGATTTCAACAATGTTGCCCTAAAAGCTAATTTTATTTCAATAAAGTAACATTCAAGTTCTGTTGGGCTTTGTTGCTGTTGGTTTAGCAATGGGATTTTTTTTCCCCCATCACAGCTTTGGAAACACGATGAGCAAGGAGAAGCGAGAGGCTGTCAGTAAAGAGGACCTGGCCAGAGCGACTTTGATCACCATCACCAACAACATTGGCTCAATAGCAAGAATGTGTGCCCTTAATGAAGTAAGGGGACATGGATTTCTTTAATTGCTCTAAGGAAAATACTGAACTTAAGTGGGCCCCATCACGTCTGTTTTCTCAGAACAGTGCCTAAATGTAGTCATTTGGGGTGGGGTTTGTTTTAGCACGAAGTTAAAACTCTTCAAATACAGATTAATCTTCTTTTTTTTTTTTTTAAACTGAAGATAAACATTGCTACTTGTCTAGAGGTAAAATGACATCTTTTGAGGAGAAAGTAGAGGAAGAGTGGAAGGTAGCCAGTGTTCCAGATATTGGGGACTGTTGGGGGTGATGATGGATAACGATGCTGAATGTAGACTCCACACTCACTGCTGAGCTCTAGAGGCCCTAGGGAGGAATCCAGAGGAAGTCACGGAAGCTGGGAGAAGACTGAGCAGGCCGAGGGGTGCCCTCCTTGGCTCCCCCACCTCAGCAGAGCTGCGTCTTTGTGCTTTCAGCTTCTTTACAGTGCTGCCTTGTAGCATTCAGGTCAAGCAGCATTGTACAGGGCTATGAAAGAACCAAGAATGGGCTGCCCTTGGGAAAAGAGGATCTAGGATCCAGTTGGTGCAGCTTATGGCTTGTCCCTGTGTGTATAGTTGTTAAATTATTCTTTTATTTTTATTTTTAAGAAGTTATTCTTTAGATAATAATAGGCATGTAGCTTAAAAGGAAACCTCAAAAGACACAAAGGATTTGTCTCATTTTAAATTAAAAAAATACTGTATCAGCATCAAGTAATTAAACATTTGTTGGAATATCATAACTTCTTTTTTCTTTATTGTATGTTCCCTTTCCTGTGCTTACGTATTTTCAGAAATTTTAGTTGGTGTGCATACCACAATTTGTATTTTATACTTAAATATACATTTCATGGTTGTATATTTATTTGATCAAGTTCTTTTATATCAAATAACAGAGCTTGGCATTTGGTTGCTTGCTCATAACTCGGCAGTAAGCATTTTTAAGCATGAAGTTATTCTTTGGTTGAATTTTATTCTTGATATGGGGCTTAGGAGTGAGATTTCTGGTCTACAGAAATGATCATGCTCATGAATTTTGACATTTATCGTCATGATGCTTTGCACAAGGGCTGCACCAATTTAGATCATCTTTAGCGGTGAATGAGTGGATTAATTTTACTACAACTACTGATGGTGGTGGTGGAATTTCAGTTGCTTTTTTTTGCGAGGTTAATAGGTCTAAAATTTTACTTTTGTTTGATGACTAGTGGTTTGAATTTTTCGCTGCCTGTTATATTGCTTGTATACTTTGCCTGTTTGTGTCACTGTCCTTTTGGATTGGAGTCATACTGTTTTTTTTTGTTTATTTTAACTTATCTGTATAAAACATTGTATTCAAAACTAGTTATTGTTGGTCAGATTTAATACAAATGTTTTTCCTAATCTGTTTTCTTCTCCTGTGACATTATCTAGCATGCTTTGCAGTGGGTCCAGAGTTGTCTGGGGATCAAGTTTAAGTAGCCCTGGACCAACTGGACTAAATTTGATCAGCAGTCAAATTGTTGCTAAGAGCTATGCACATGGTGCTGTATTTGGGGTAGCTTTTATGAGAAAATAGAAATTAAGATGAAAACTAATTGCCTTTTTTTGGTGTGCTCAGAACATTAACCAGGTGGTATTTGTTGGAAATTTCTTGAGAATTAATACGATCGCCATGCGGCTTTTGGCATATGCTTTGGATTATTGGTCCAAGGGGCAGTTGAAAGCACTTTTTTCGGAACACGAGGTAAGCTGACTTGTTCGTTGTGGTATATTATGTACACAGAGGGCTTGTGGGTCACACTGTCATGGAACTTGAGGTAGAGGGTGGAGGTGAAATGGGCTGCAGTGTTTCTTTTGTTTTTTGTTTTTTTGAGACGGAGTCTCGCTCTGTCACCTAGGTTGGAGTGCGTGGCACAGTCTTGGGGCTCACTGC
Task1_train_27668
The gene PANK2 (pantothenate kinase 2) on Chromosome 20 carries this variant. Does this mutation lead to a specific disease, or is it non-pathogenic?
Pathogenic; Pigmentary pallidal degeneration
CTGAAGTCTATTGCTAAGTTTTTAGTTGGATTGTCTTTTTATTATTGAGTTCTGGATACAAGTCCCTTATTAGATACATAATTCGCAAATGTTTTGTCCCATTTTGTTAGTTGTCTTTTCACTTCCTTGATGGTGTCCTTTGCAGCATGGAAATTTTAAATTTTGATGAAGTTAATCTTATCTATCTTCTGTCACTTGTGCTTTTGGTGTTATGTGTAAGAAATCTAAGATCATGAAGAATTGCCTAATTTAAGATCATGAAGAATTGTTTATTTTCTTTTAAGAGTTTTATAGTTTTAGCTCATATATATATATGTGTGTGTGTGTATTTTTTTCTTTTTTTCTTTTTTGAGATGGAGTCTTGCTCTGTCACCAGGCTGGAGTGCAGTGGTGCGATCTCGGCTCACTGCAACCTCCACCTCCCGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGACTACAGTGCGTGCCGCCACACCCAGCTAATTTTTGTATTTTTAGTAGAGACAGGGTTTCACCATATTGTCCAGGATGGTCTCGATCTCTTGACCTCGTGATCCGCCCACCTTGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCACGCCCGCCAGTTTTAGCTCTTATATTTAGCTCTTATATTTGATCCATTTTGAGTAAGTTTTTGTGTATGGTGTGAGGTAGAGCTCCAAGTTCATTTCTTTTTGCGTGTGGATATCCAGTTGTCCTAGTACCATTTGTTGAAAAGATGATTCTTTCCCTGTTAAATTCTCTTGGCCCCTTTGTCAAAAATTAGTTGACCATAGATGTTTGGGTTTACTCCTGGACTCTTAAGTTATGTTCCATTGATATATATGTCTGTTTTTATACCAGTACCATACTGCCTTGATACTGTAGCGTTGTATTAAGTTCTGAAGTAAGAAAGTGTGAGTCATCCAACTTGTTCTTTTTTCGAGATTATTTTGGCTATTCTGGGTACCTTGAGAATATGAATTGTAGGGTTAACTTGGCAAGGTCTGTAAATAAGACAACTGGGATTTTAATAGAGATTACATTGAATCTTTTGGCCATCCTAATACAAAGTCTTCTGATCCAAAAAGATGGAATGTCTTCCCATTGATTTAGATCTTTGCTTTCTTTCAGCAGTGTTTTGTAGATTTTATTGTACAGGTGTTAATACTTTTGTTAGATATATCCGTAAGTGTTTTATTCTCTAATGCTATTATAAATGAAATCATTGTCTCCATTTTGAGATCGTTTAGAAGTACAATTGTTTTTCGTATATTGGGGCACATGGCTTTTACTAATAGAAAAATCATATGTATACATGCTTGTTTACTAAGTTTTAGGCACTTGGTCAATGCTGTTGATTTTCTGTTTGTAACATTTGCTCGTTGGTCATCACTTCCTTTTCTGATTGGAAAATTATTGTAGCAGTTCTGCTGAGCATGTACTTTGAAGTACTTTATCTTCTAGGGAAACCTGAAATTCTTAAGCAGCTCACTCTGGGACTCAGCTGTCTGTGCTTTACTCTGCTCTGATAGAGCAGTTTACCAGATGTGCATGTGGCCATCTGAGTGGAACAGCTGTGCAGTTGAGATGAATTGCTGTTAGAGGTGTTGTCCTGGAACTGTCTGGTTGCAGGAGCAATGGTGCCTTCCAGTGCATCTGATGAGATTCTAACTGAATATGTGAATATCTGGTATCCAAGCTAGATTTCAGTAGAAACCGCAGGGAAAGCTGTCTGCTCATTTAGAATGTTGGAGGGCTCTGTTTGAAGTTTGCATTTCTCTTTGAACAGATGCTCCATTGCAAAATAAAAGGTTTGAAGATTTCAACAATGTTGCCCTAAAAGCTAATTTTATTTCAATAAAGTAACATTCAAGTTCTGTTGGGCTTTGTTGCTGTTGGTTTAGCAATGGGATTTTTTTTCCCCCATCACAGCTTTGGAAACATGATGAGCAAGGAGAAGCGAGAGGCTGTCAGTAAAGAGGACCTGGCCAGAGCGACTTTGATCACCATCACCAACAACATTGGCTCAATAGCAAGAATGTGTGCCCTTAATGAAGTAAGGGGACATGGATTTCTTTAATTGCTCTAAGGAAAATACTGAACTTAAGTGGGCCCCATCACGTCTGTTTTCTCAGAACAGTGCCTAAATGTAGTCATTTGGGGTGGGGTTTGTTTTAGCACGAAGTTAAAACTCTTCAAATACAGATTAATCTTCTTTTTTTTTTTTTTAAACTGAAGATAAACATTGCTACTTGTCTAGAGGTAAAATGACATCTTTTGAGGAGAAAGTAGAGGAAGAGTGGAAGGTAGCCAGTGTTCCAGATATTGGGGACTGTTGGGGGTGATGATGGATAACGATGCTGAATGTAGACTCCACACTCACTGCTGAGCTCTAGAGGCCCTAGGGAGGAATCCAGAGGAAGTCACGGAAGCTGGGAGAAGACTGAGCAGGCCGAGGGGTGCCCTCCTTGGCTCCCCCACCTCAGCAGAGCTGCGTCTTTGTGCTTTCAGCTTCTTTACAGTGCTGCCTTGTAGCATTCAGGTCAAGCAGCATTGTACAGGGCTATGAAAGAACCAAGAATGGGCTGCCCTTGGGAAAAGAGGATCTAGGATCCAGTTGGTGCAGCTTATGGCTTGTCCCTGTGTGTATAGTTGTTAAATTATTCTTTTATTTTTATTTTTAAGAAGTTATTCTTTAGATAATAATAGGCATGTAGCTTAAAAGGAAACCTCAAAAGACACAAAGGATTTGTCTCATTTTAAATTAAAAAAATACTGTATCAGCATCAAGTAATTAAACATTTGTTGGAATATCATAACTTCTTTTTTCTTTATTGTATGTTCCCTTTCCTGTGCTTACGTATTTTCAGAAATTTTAGTTGGTGTGCATACCACAATTTGTATTTTATACTTAAATATACATTTCATGGTTGTATATTTATTTGATCAAGTTCTTTTATATCAAATAACAGAGCTTGGCATTTGGTTGCTTGCTCATAACTCGGCAGTAAGCATTTTTAAGCATGAAGTTATTCTTTGGTTGAATTTTATTCTTGATATGGGGCTTAGGAGTGAGATTTCTGGTCTACAGAAATGATCATGCTCATGAATTTTGACATTTATCGTCATGATGCTTTGCACAAGGGCTGCACCAATTTAGATCATCTTTAGCGGTGAATGAGTGGATTAATTTTACTACAACTACTGATGGTGGTGGTGGAATTTCAGTTGCTTTTTTTTGCGAGGTTAATAGGTCTAAAATTTTACTTTTGTTTGATGACTAGTGGTTTGAATTTTTCGCTGCCTGTTATATTGCTTGTATACTTTGCCTGTTTGTGTCACTGTCCTTTTGGATTGGAGTCATACTGTTTTTTTTTGTTTATTTTAACTTATCTGTATAAAACATTGTATTCAAAACTAGTTATTGTTGGTCAGATTTAATACAAATGTTTTTCCTAATCTGTTTTCTTCTCCTGTGACATTATCTAGCATGCTTTGCAGTGGGTCCAGAGTTGTCTGGGGATCAAGTTTAAGTAGCCCTGGACCAACTGGACTAAATTTGATCAGCAGTCAAATTGTTGCTAAGAGCTATGCACATGGTGCTGTATTTGGGGTAGCTTTTATGAGAAAATAGAAATTAAGATGAAAACTAATTGCCTTTTTTTGGTGTGCTCAGAACATTAACCAGGTGGTATTTGTTGGAAATTTCTTGAGAATTAATACGATCGCCATGCGGCTTTTGGCATATGCTTTGGATTATTGGTCCAAGGGGCAGTTGAAAGCACTTTTTTCGGAACACGAGGTAAGCTGACTTGTTCGTTGTGGTATATTATGTACACAGAGGGCTTGTGGGTCACACTGTCATGGAACTTGAGGTAGAGGGTGGAGGTGAAATGGGCTGCAGTGTTTCTTTTGTTTTTTGTTTTTTTGAGACGGAGTCTCGCTCTGTCACCTAGGTTGGAGTGCGTGGCACAGTCTTGGGGCTCACTGCAGCCTCCGCCTCCTGGGTTCAAGCAGTCCTCCCACCTCAGTCTCTTAAGTAGCTGGGATTACAAGTGTGCGCCCCCAC
CTGAAGTCTATTGCTAAGTTTTTAGTTGGATTGTCTTTTTATTATTGAGTTCTGGATACAAGTCCCTTATTAGATACATAATTCGCAAATGTTTTGTCCCATTTTGTTAGTTGTCTTTTCACTTCCTTGATGGTGTCCTTTGCAGCATGGAAATTTTAAATTTTGATGAAGTTAATCTTATCTATCTTCTGTCACTTGTGCTTTTGGTGTTATGTGTAAGAAATCTAAGATCATGAAGAATTGCCTAATTTAAGATCATGAAGAATTGTTTATTTTCTTTTAAGAGTTTTATAGTTTTAGCTCATATATATATATGTGTGTGTGTGTATTTTTTTCTTTTTTTCTTTTTTGAGATGGAGTCTTGCTCTGTCACCAGGCTGGAGTGCAGTGGTGCGATCTCGGCTCACTGCAACCTCCACCTCCCGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGACTACAGTGCGTGCCGCCACACCCAGCTAATTTTTGTATTTTTAGTAGAGACAGGGTTTCACCATATTGTCCAGGATGGTCTCGATCTCTTGACCTCGTGATCCGCCCACCTTGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCACGCCCGCCAGTTTTAGCTCTTATATTTAGCTCTTATATTTGATCCATTTTGAGTAAGTTTTTGTGTATGGTGTGAGGTAGAGCTCCAAGTTCATTTCTTTTTGCGTGTGGATATCCAGTTGTCCTAGTACCATTTGTTGAAAAGATGATTCTTTCCCTGTTAAATTCTCTTGGCCCCTTTGTCAAAAATTAGTTGACCATAGATGTTTGGGTTTACTCCTGGACTCTTAAGTTATGTTCCATTGATATATATGTCTGTTTTTATACCAGTACCATACTGCCTTGATACTGTAGCGTTGTATTAAGTTCTGAAGTAAGAAAGTGTGAGTCATCCAACTTGTTCTTTTTTCGAGATTATTTTGGCTATTCTGGGTACCTTGAGAATATGAATTGTAGGGTTAACTTGGCAAGGTCTGTAAATAAGACAACTGGGATTTTAATAGAGATTACATTGAATCTTTTGGCCATCCTAATACAAAGTCTTCTGATCCAAAAAGATGGAATGTCTTCCCATTGATTTAGATCTTTGCTTTCTTTCAGCAGTGTTTTGTAGATTTTATTGTACAGGTGTTAATACTTTTGTTAGATATATCCGTAAGTGTTTTATTCTCTAATGCTATTATAAATGAAATCATTGTCTCCATTTTGAGATCGTTTAGAAGTACAATTGTTTTTCGTATATTGGGGCACATGGCTTTTACTAATAGAAAAATCATATGTATACATGCTTGTTTACTAAGTTTTAGGCACTTGGTCAATGCTGTTGATTTTCTGTTTGTAACATTTGCTCGTTGGTCATCACTTCCTTTTCTGATTGGAAAATTATTGTAGCAGTTCTGCTGAGCATGTACTTTGAAGTACTTTATCTTCTAGGGAAACCTGAAATTCTTAAGCAGCTCACTCTGGGACTCAGCTGTCTGTGCTTTACTCTGCTCTGATAGAGCAGTTTACCAGATGTGCATGTGGCCATCTGAGTGGAACAGCTGTGCAGTTGAGATGAATTGCTGTTAGAGGTGTTGTCCTGGAACTGTCTGGTTGCAGGAGCAATGGTGCCTTCCAGTGCATCTGATGAGATTCTAACTGAATATGTGAATATCTGGTATCCAAGCTAGATTTCAGTAGAAACCGCAGGGAAAGCTGTCTGCTCATTTAGAATGTTGGAGGGCTCTGTTTGAAGTTTGCATTTCTCTTTGAACAGATGCTCCATTGCAAAATAAAAGGTTTGAAGATTTCAACAATGTTGCCCTAAAAGCTAATTTTATTTCAATAAAGTAACATTCAAGTTCTGTTGGGCTTTGTTGCTGTTGGTTTAGCAATGGGATTTTTTTTCCCCCATCACAGCTTTGGAAACATGATGAGCAAGGAGAAGCGAGAGGCTGTCAGTAAAGAGGACCTGGCCAGAGCGACTTTGATCACCATCACCAACAACAATGGCTCAATAGCAAGAATGTGTGCCCTTAATGAAGTAAGGGGACATGGATTTCTTTAATTGCTCTAAGGAAAATACTGAACTTAAGTGGGCCCCATCACGTCTGTTTTCTCAGAACAGTGCCTAAATGTAGTCATTTGGGGTGGGGTTTGTTTTAGCACGAAGTTAAAACTCTTCAAATACAGATTAATCTTCTTTTTTTTTTTTTTAAACTGAAGATAAACATTGCTACTTGTCTAGAGGTAAAATGACATCTTTTGAGGAGAAAGTAGAGGAAGAGTGGAAGGTAGCCAGTGTTCCAGATATTGGGGACTGTTGGGGGTGATGATGGATAACGATGCTGAATGTAGACTCCACACTCACTGCTGAGCTCTAGAGGCCCTAGGGAGGAATCCAGAGGAAGTCACGGAAGCTGGGAGAAGACTGAGCAGGCCGAGGGGTGCCCTCCTTGGCTCCCCCACCTCAGCAGAGCTGCGTCTTTGTGCTTTCAGCTTCTTTACAGTGCTGCCTTGTAGCATTCAGGTCAAGCAGCATTGTACAGGGCTATGAAAGAACCAAGAATGGGCTGCCCTTGGGAAAAGAGGATCTAGGATCCAGTTGGTGCAGCTTATGGCTTGTCCCTGTGTGTATAGTTGTTAAATTATTCTTTTATTTTTATTTTTAAGAAGTTATTCTTTAGATAATAATAGGCATGTAGCTTAAAAGGAAACCTCAAAAGACACAAAGGATTTGTCTCATTTTAAATTAAAAAAATACTGTATCAGCATCAAGTAATTAAACATTTGTTGGAATATCATAACTTCTTTTTTCTTTATTGTATGTTCCCTTTCCTGTGCTTACGTATTTTCAGAAATTTTAGTTGGTGTGCATACCACAATTTGTATTTTATACTTAAATATACATTTCATGGTTGTATATTTATTTGATCAAGTTCTTTTATATCAAATAACAGAGCTTGGCATTTGGTTGCTTGCTCATAACTCGGCAGTAAGCATTTTTAAGCATGAAGTTATTCTTTGGTTGAATTTTATTCTTGATATGGGGCTTAGGAGTGAGATTTCTGGTCTACAGAAATGATCATGCTCATGAATTTTGACATTTATCGTCATGATGCTTTGCACAAGGGCTGCACCAATTTAGATCATCTTTAGCGGTGAATGAGTGGATTAATTTTACTACAACTACTGATGGTGGTGGTGGAATTTCAGTTGCTTTTTTTTGCGAGGTTAATAGGTCTAAAATTTTACTTTTGTTTGATGACTAGTGGTTTGAATTTTTCGCTGCCTGTTATATTGCTTGTATACTTTGCCTGTTTGTGTCACTGTCCTTTTGGATTGGAGTCATACTGTTTTTTTTTGTTTATTTTAACTTATCTGTATAAAACATTGTATTCAAAACTAGTTATTGTTGGTCAGATTTAATACAAATGTTTTTCCTAATCTGTTTTCTTCTCCTGTGACATTATCTAGCATGCTTTGCAGTGGGTCCAGAGTTGTCTGGGGATCAAGTTTAAGTAGCCCTGGACCAACTGGACTAAATTTGATCAGCAGTCAAATTGTTGCTAAGAGCTATGCACATGGTGCTGTATTTGGGGTAGCTTTTATGAGAAAATAGAAATTAAGATGAAAACTAATTGCCTTTTTTTGGTGTGCTCAGAACATTAACCAGGTGGTATTTGTTGGAAATTTCTTGAGAATTAATACGATCGCCATGCGGCTTTTGGCATATGCTTTGGATTATTGGTCCAAGGGGCAGTTGAAAGCACTTTTTTCGGAACACGAGGTAAGCTGACTTGTTCGTTGTGGTATATTATGTACACAGAGGGCTTGTGGGTCACACTGTCATGGAACTTGAGGTAGAGGGTGGAGGTGAAATGGGCTGCAGTGTTTCTTTTGTTTTTTGTTTTTTTGAGACGGAGTCTCGCTCTGTCACCTAGGTTGGAGTGCGTGGCACAGTCTTGGGGCTCACTGCAGCCTCCGCCTCCTGGGTTCAAGCAGTCCTCCCACCTCAGTCTCTTAAGTAGCTGGGATTACAAGTGTGCGCCCCCAC
Task1_train_27669
Here’s a variant in PANK2 (pantothenate kinase 2) located on Chromosome 20. What is the predicted biological effect — harmless or disease-causing?
Pathogenic; Pigmentary pallidal degeneration
GCATCTGATGAGATTCTAACTGAATATGTGAATATCTGGTATCCAAGCTAGATTTCAGTAGAAACCGCAGGGAAAGCTGTCTGCTCATTTAGAATGTTGGAGGGCTCTGTTTGAAGTTTGCATTTCTCTTTGAACAGATGCTCCATTGCAAAATAAAAGGTTTGAAGATTTCAACAATGTTGCCCTAAAAGCTAATTTTATTTCAATAAAGTAACATTCAAGTTCTGTTGGGCTTTGTTGCTGTTGGTTTAGCAATGGGATTTTTTTTCCCCCATCACAGCTTTGGAAACATGATGAGCAAGGAGAAGCGAGAGGCTGTCAGTAAAGAGGACCTGGCCAGAGCGACTTTGATCACCATCACCAACAACATTGGCTCAATAGCAAGAATGTGTGCCCTTAATGAAGTAAGGGGACATGGATTTCTTTAATTGCTCTAAGGAAAATACTGAACTTAAGTGGGCCCCATCACGTCTGTTTTCTCAGAACAGTGCCTAAATGTAGTCATTTGGGGTGGGGTTTGTTTTAGCACGAAGTTAAAACTCTTCAAATACAGATTAATCTTCTTTTTTTTTTTTTTAAACTGAAGATAAACATTGCTACTTGTCTAGAGGTAAAATGACATCTTTTGAGGAGAAAGTAGAGGAAGAGTGGAAGGTAGCCAGTGTTCCAGATATTGGGGACTGTTGGGGGTGATGATGGATAACGATGCTGAATGTAGACTCCACACTCACTGCTGAGCTCTAGAGGCCCTAGGGAGGAATCCAGAGGAAGTCACGGAAGCTGGGAGAAGACTGAGCAGGCCGAGGGGTGCCCTCCTTGGCTCCCCCACCTCAGCAGAGCTGCGTCTTTGTGCTTTCAGCTTCTTTACAGTGCTGCCTTGTAGCATTCAGGTCAAGCAGCATTGTACAGGGCTATGAAAGAACCAAGAATGGGCTGCCCTTGGGAAAAGAGGATCTAGGATCCAGTTGGTGCAGCTTATGGCTTGTCCCTGTGTGTATAGTTGTTAAATTATTCTTTTATTTTTATTTTTAAGAAGTTATTCTTTAGATAATAATAGGCATGTAGCTTAAAAGGAAACCTCAAAAGACACAAAGGATTTGTCTCATTTTAAATTAAAAAAATACTGTATCAGCATCAAGTAATTAAACATTTGTTGGAATATCATAACTTCTTTTTTCTTTATTGTATGTTCCCTTTCCTGTGCTTACGTATTTTCAGAAATTTTAGTTGGTGTGCATACCACAATTTGTATTTTATACTTAAATATACATTTCATGGTTGTATATTTATTTGATCAAGTTCTTTTATATCAAATAACAGAGCTTGGCATTTGGTTGCTTGCTCATAACTCGGCAGTAAGCATTTTTAAGCATGAAGTTATTCTTTGGTTGAATTTTATTCTTGATATGGGGCTTAGGAGTGAGATTTCTGGTCTACAGAAATGATCATGCTCATGAATTTTGACATTTATCGTCATGATGCTTTGCACAAGGGCTGCACCAATTTAGATCATCTTTAGCGGTGAATGAGTGGATTAATTTTACTACAACTACTGATGGTGGTGGTGGAATTTCAGTTGCTTTTTTTTGCGAGGTTAATAGGTCTAAAATTTTACTTTTGTTTGATGACTAGTGGTTTGAATTTTTCGCTGCCTGTTATATTGCTTGTATACTTTGCCTGTTTGTGTCACTGTCCTTTTGGATTGGAGTCATACTGTTTTTTTTTGTTTATTTTAACTTATCTGTATAAAACATTGTATTCAAAACTAGTTATTGTTGGTCAGATTTAATACAAATGTTTTTCCTAATCTGTTTTCTTCTCCTGTGACATTATCTAGCATGCTTTGCAGTGGGTCCAGAGTTGTCTGGGGATCAAGTTTAAGTAGCCCTGGACCAACTGGACTAAATTTGATCAGCAGTCAAATTGTTGCTAAGAGCTATGCACATGGTGCTGTATTTGGGGTAGCTTTTATGAGAAAATAGAAATTAAGATGAAAACTAATTGCCTTTTTTTGGTGTGCTCAGAACATTAACCAGGTGGTATTTGTTGGAAATTTCTTGAGAATTAATACGATCGCCATGCGGCTTTTGGCATATGCTTTGGATTATTGGTCCAAGGGGCAGTTGAAAGCACTTTTTTCGGAACACGAGGTAAGCTGACTTGTTCGTTGTGGTATATTATGTACACAGAGGGCTTGTGGGTCACACTGTCATGGAACTTGAGGTAGAGGGTGGAGGTGAAATGGGCTGCAGTGTTTCTTTTGTTTTTTGTTTTTTTGAGACGGAGTCTCGCTCTGTCACCTAGGTTGGAGTGCGTGGCACAGTCTTGGGGCTCACTGCAGCCTCCGCCTCCTGGGTTCAAGCAGTCCTCCCACCTCAGTCTCTTAAGTAGCTGGGATTACAAGTGTGCGCCCCCACACCCTGCTAATTTTTGTACTTTCAGTAGAAATGGGGTTTCACCATGTTGGCCAAGCTGGTCTGGTCTCAAACTCCTGACCTTAAGTGATCTGCCAGCCTCAGCCTCCCAAAGTTCCAGGATTACAGGTGTGAACCACTGTGCCTGAACTTTTTTGGTAGTTTAATTTCGTAACATTTGAAAGCTGTTTCTTCCCTGATACTAATGCAAGGTAAATTTTGGGTTAATTTAATTGTAAGCTTAAGGAATTTTAGAGAAAAACCCTTGAACATTCCCCTATATTTCTGATGCCATATTTTTGTCTGAACTATCCTCTATATTTTTTCTATTGCACTGACTGTGTCATTACTCTGGGTTCTGGTTTTTTCATTTTTTTCAGTGCCAGTTTTTATATATTGTTGTAATTCTTGTGCCAGTTATTTAAGATGCATGTTGTAAAAATGAATAGATGAGTAAACCTCTCAGACTAGAACCATACTATCATAAGAACTTAAGTACAATTGTAGACAGGCTGGAAATGATGAAATGGAAAAGAATCAAATTGCTCAACCTCATAGCCTGTCTTGGAAAGCACTCTTATTTTTCCTATTTGGGGAAAAAGAAGCAGAGGTATGGAAAGGCGTGTAGGGGTTCTTTCTTCCCTTCTTGGTTGTGGGGCAGTTGAACTATTCTTTCAACTGTTCTTGGATTTTAGATACTGTTATTATGAACATTTTTCAGAATTGTATTGCATATTTAGTTTAACAGTCTATATGAATTAAAGGAAATCAAAGTCCAGATAATAGCACAGATTTGAAGTGCTAGAGATTACTTTTTCCTTTAAAGTTACTTTAAGTTTTTCTTTTTAAATTGCTTTAGTTCATAGTTGAAGTCCAAAGTACACAAATCCCCATATCAAAAAGCTTAAAATTGAAGTCATCTAACTTAGTTTTAAAATTCTAACATTACTGTATTTGTAAACCAGCACCGAATTGCCATTAAGTTTCTTACAGTTCATGTTTCTGTATACATCTTTTTTTGTGATCTGACTTATTTTATTTTGCTTTATATTAGAATTTTTTAAACTCGAATGTTAGATCTTTTTCTGCTTTATTTCTGCCTCTTGTTTAACCTTTTCCTAGGTAGAACATGGAGATTAGTTTTTTAAGTTAACCTTAAAAAAAAAATAGGCTGGGTGCGGTGGCTCACGTCTGTAATCCCAGCACTTTGGGAGGCTGAGATGGGCAGATCACCTAAGGTCAGGAGACCAGCCTGGCCAACCATGGTCAATGTGGCAAAACCCTGTCTCTACTAAAAATACAAAAATTAGCTGGGCGCAATGGCGGGCGCCTATAATCCCCAGCTACTCGGGAGGCTGAGACAGGAGAATCTCTTGAATCTGGGAGGCGGAGGTTGCAGTGAGCTGAGATCGCACCACTGTACTACAGCCTGGGCAACAGAACGAGACTCTGTCTCAAAAACAAAAACAAACAACAACAACAAAACAAACAAAAACACCAAACAGGCCAGGTGCAGCGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGTGGGCGGATCATGAGGTCAGGAGTTCAAGACCAGCCTGACCAACATGGAGAAGCCCTGTCTCTACAAAAAATACAAAAATTAGCTGGACGTGGTGGCACATACCTGTAATCCCAGCTACTTGGGAG
GCATCTGATGAGATTCTAACTGAATATGTGAATATCTGGTATCCAAGCTAGATTTCAGTAGAAACCGCAGGGAAAGCTGTCTGCTCATTTAGAATGTTGGAGGGCTCTGTTTGAAGTTTGCATTTCTCTTTGAACAGATGCTCCATTGCAAAATAAAAGGTTTGAAGATTTCAACAATGTTGCCCTAAAAGCTAATTTTATTTCAATAAAGTAACATTCAAGTTCTGTTGGGCTTTGTTGCTGTTGGTTTAGCAATGGGATTTTTTTTCCCCCATCACAGCTTTGGAAACATGATGAGCAAGGAGAAGCGAGAGGCTGTCAGTAAAGAGGACCTGGCCAGAGCGACTTTGATCACCATCACCAACAACATTGGCTCAATAGCAAGAATGTGTGCCCTTAATGAAGTAAGGGGACATGGATTTCTTTAATTGCTCTAAGGAAAATACTGAACTTAAGTGGGCCCCATCACGTCTGTTTTCTCAGAACAGTGCCTAAATGTAGTCATTTGGGGTGGGGTTTGTTTTAGCACGAAGTTAAAACTCTTCAAATACAGATTAATCTTCTTTTTTTTTTTTTTAAACTGAAGATAAACATTGCTACTTGTCTAGAGGTAAAATGACATCTTTTGAGGAGAAAGTAGAGGAAGAGTGGAAGGTAGCCAGTGTTCCAGATATTGGGGACTGTTGGGGGTGATGATGGATAACGATGCTGAATGTAGACTCCACACTCACTGCTGAGCTCTAGAGGCCCTAGGGAGGAATCCAGAGGAAGTCACGGAAGCTGGGAGAAGACTGAGCAGGCCGAGGGGTGCCCTCCTTGGCTCCCCCACCTCAGCAGAGCTGCGTCTTTGTGCTTTCAGCTTCTTTACAGTGCTGCCTTGTAGCATTCAGGTCAAGCAGCATTGTACAGGGCTATGAAAGAACCAAGAATGGGCTGCCCTTGGGAAAAGAGGATCTAGGATCCAGTTGGTGCAGCTTATGGCTTGTCCCTGTGTGTATAGTTGTTAAATTATTCTTTTATTTTTATTTTTAAGAAGTTATTCTTTAGATAATAATAGGCATGTAGCTTAAAAGGAAACCTCAAAAGACACAAAGGATTTGTCTCATTTTAAATTAAAAAAATACTGTATCAGCATCAAGTAATTAAACATTTGTTGGAATATCATAACTTCTTTTTTCTTTATTGTATGTTCCCTTTCCTGTGCTTACGTATTTTCAGAAATTTTAGTTGGTGTGCATACCACAATTTGTATTTTATACTTAAATATACATTTCATGGTTGTATATTTATTTGATCAAGTTCTTTTATATCAAATAACAGAGCTTGGCATTTGGTTGCTTGCTCATAACTCGGCAGTAAGCATTTTTAAGCATGAAGTTATTCTTTGGTTGAATTTTATTCTTGATATGGGGCTTAGGAGTGAGATTTCTGGTCTACAGAAATGATCATGCTCATGAATTTTGACATTTATCGTCATGATGCTTTGCACAAGGGCTGCACCAATTTAGATCATCTTTAGCGGTGAATGAGTGGATTAATTTTACTACAACTACTGATGGTGGTGGTGGAATTTCAGTTGCTTTTTTTTGCGAGGTTAATAGGTCTAAAATTTTACTTTTGTTTGATGACTAGTGGTTTGAATTTTTCGCTGCCTGTTATATTGCTTGTATACTTTGCCTGTTTGTGTCACTGTCCTTTTGGATTGGAGTCATACTGTTTTTTTTTGTTTATTTTAACTTATCTGTATAAAACATTGTATTCAAAACTAGTTATTGTTGGTCAGATTTAATACAAATGTTTTTCCTAATCTGTTTTCTTCTCCTGTGACATTATCTAGCATGCTTTGCAGTGGGTCCAGAGTTGTCTGGGGATCAAGTTTAAGTAGCCCTGGACCAACTGGACTAAATTTGATCAGCAGTCAAATTGTTGCTAAGAGCTATGCACATGGTGCTGTATTTGGGGTAGCTTTTATGAGAAAATAGAAATTAAGATGAAAACTAATTGCCTTTTTTTGGTGTGCTCAGAACATTAACCAGGTGGTATTTGTTAGAAATTTCTTGAGAATTAATACGATCGCCATGCGGCTTTTGGCATATGCTTTGGATTATTGGTCCAAGGGGCAGTTGAAAGCACTTTTTTCGGAACACGAGGTAAGCTGACTTGTTCGTTGTGGTATATTATGTACACAGAGGGCTTGTGGGTCACACTGTCATGGAACTTGAGGTAGAGGGTGGAGGTGAAATGGGCTGCAGTGTTTCTTTTGTTTTTTGTTTTTTTGAGACGGAGTCTCGCTCTGTCACCTAGGTTGGAGTGCGTGGCACAGTCTTGGGGCTCACTGCAGCCTCCGCCTCCTGGGTTCAAGCAGTCCTCCCACCTCAGTCTCTTAAGTAGCTGGGATTACAAGTGTGCGCCCCCACACCCTGCTAATTTTTGTACTTTCAGTAGAAATGGGGTTTCACCATGTTGGCCAAGCTGGTCTGGTCTCAAACTCCTGACCTTAAGTGATCTGCCAGCCTCAGCCTCCCAAAGTTCCAGGATTACAGGTGTGAACCACTGTGCCTGAACTTTTTTGGTAGTTTAATTTCGTAACATTTGAAAGCTGTTTCTTCCCTGATACTAATGCAAGGTAAATTTTGGGTTAATTTAATTGTAAGCTTAAGGAATTTTAGAGAAAAACCCTTGAACATTCCCCTATATTTCTGATGCCATATTTTTGTCTGAACTATCCTCTATATTTTTTCTATTGCACTGACTGTGTCATTACTCTGGGTTCTGGTTTTTTCATTTTTTTCAGTGCCAGTTTTTATATATTGTTGTAATTCTTGTGCCAGTTATTTAAGATGCATGTTGTAAAAATGAATAGATGAGTAAACCTCTCAGACTAGAACCATACTATCATAAGAACTTAAGTACAATTGTAGACAGGCTGGAAATGATGAAATGGAAAAGAATCAAATTGCTCAACCTCATAGCCTGTCTTGGAAAGCACTCTTATTTTTCCTATTTGGGGAAAAAGAAGCAGAGGTATGGAAAGGCGTGTAGGGGTTCTTTCTTCCCTTCTTGGTTGTGGGGCAGTTGAACTATTCTTTCAACTGTTCTTGGATTTTAGATACTGTTATTATGAACATTTTTCAGAATTGTATTGCATATTTAGTTTAACAGTCTATATGAATTAAAGGAAATCAAAGTCCAGATAATAGCACAGATTTGAAGTGCTAGAGATTACTTTTTCCTTTAAAGTTACTTTAAGTTTTTCTTTTTAAATTGCTTTAGTTCATAGTTGAAGTCCAAAGTACACAAATCCCCATATCAAAAAGCTTAAAATTGAAGTCATCTAACTTAGTTTTAAAATTCTAACATTACTGTATTTGTAAACCAGCACCGAATTGCCATTAAGTTTCTTACAGTTCATGTTTCTGTATACATCTTTTTTTGTGATCTGACTTATTTTATTTTGCTTTATATTAGAATTTTTTAAACTCGAATGTTAGATCTTTTTCTGCTTTATTTCTGCCTCTTGTTTAACCTTTTCCTAGGTAGAACATGGAGATTAGTTTTTTAAGTTAACCTTAAAAAAAAAATAGGCTGGGTGCGGTGGCTCACGTCTGTAATCCCAGCACTTTGGGAGGCTGAGATGGGCAGATCACCTAAGGTCAGGAGACCAGCCTGGCCAACCATGGTCAATGTGGCAAAACCCTGTCTCTACTAAAAATACAAAAATTAGCTGGGCGCAATGGCGGGCGCCTATAATCCCCAGCTACTCGGGAGGCTGAGACAGGAGAATCTCTTGAATCTGGGAGGCGGAGGTTGCAGTGAGCTGAGATCGCACCACTGTACTACAGCCTGGGCAACAGAACGAGACTCTGTCTCAAAAACAAAAACAAACAACAACAACAAAACAAACAAAAACACCAAACAGGCCAGGTGCAGCGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGTGGGCGGATCATGAGGTCAGGAGTTCAAGACCAGCCTGACCAACATGGAGAAGCCCTGTCTCTACAAAAAATACAAAAATTAGCTGGACGTGGTGGCACATACCTGTAATCCCAGCTACTTGGGAG
Task1_train_27670
Gene PANK2 (pantothenate kinase 2) on Chromosome 20 is altered by this variant. Does this mutation result in a disease or is it benign?
Pathogenic; Hypoprebetalipoproteinemia, acanthocytosis, retinitis pigmentosa, and pallidal degeneration
GCATCTGATGAGATTCTAACTGAATATGTGAATATCTGGTATCCAAGCTAGATTTCAGTAGAAACCGCAGGGAAAGCTGTCTGCTCATTTAGAATGTTGGAGGGCTCTGTTTGAAGTTTGCATTTCTCTTTGAACAGATGCTCCATTGCAAAATAAAAGGTTTGAAGATTTCAACAATGTTGCCCTAAAAGCTAATTTTATTTCAATAAAGTAACATTCAAGTTCTGTTGGGCTTTGTTGCTGTTGGTTTAGCAATGGGATTTTTTTTCCCCCATCACAGCTTTGGAAACATGATGAGCAAGGAGAAGCGAGAGGCTGTCAGTAAAGAGGACCTGGCCAGAGCGACTTTGATCACCATCACCAACAACATTGGCTCAATAGCAAGAATGTGTGCCCTTAATGAAGTAAGGGGACATGGATTTCTTTAATTGCTCTAAGGAAAATACTGAACTTAAGTGGGCCCCATCACGTCTGTTTTCTCAGAACAGTGCCTAAATGTAGTCATTTGGGGTGGGGTTTGTTTTAGCACGAAGTTAAAACTCTTCAAATACAGATTAATCTTCTTTTTTTTTTTTTTAAACTGAAGATAAACATTGCTACTTGTCTAGAGGTAAAATGACATCTTTTGAGGAGAAAGTAGAGGAAGAGTGGAAGGTAGCCAGTGTTCCAGATATTGGGGACTGTTGGGGGTGATGATGGATAACGATGCTGAATGTAGACTCCACACTCACTGCTGAGCTCTAGAGGCCCTAGGGAGGAATCCAGAGGAAGTCACGGAAGCTGGGAGAAGACTGAGCAGGCCGAGGGGTGCCCTCCTTGGCTCCCCCACCTCAGCAGAGCTGCGTCTTTGTGCTTTCAGCTTCTTTACAGTGCTGCCTTGTAGCATTCAGGTCAAGCAGCATTGTACAGGGCTATGAAAGAACCAAGAATGGGCTGCCCTTGGGAAAAGAGGATCTAGGATCCAGTTGGTGCAGCTTATGGCTTGTCCCTGTGTGTATAGTTGTTAAATTATTCTTTTATTTTTATTTTTAAGAAGTTATTCTTTAGATAATAATAGGCATGTAGCTTAAAAGGAAACCTCAAAAGACACAAAGGATTTGTCTCATTTTAAATTAAAAAAATACTGTATCAGCATCAAGTAATTAAACATTTGTTGGAATATCATAACTTCTTTTTTCTTTATTGTATGTTCCCTTTCCTGTGCTTACGTATTTTCAGAAATTTTAGTTGGTGTGCATACCACAATTTGTATTTTATACTTAAATATACATTTCATGGTTGTATATTTATTTGATCAAGTTCTTTTATATCAAATAACAGAGCTTGGCATTTGGTTGCTTGCTCATAACTCGGCAGTAAGCATTTTTAAGCATGAAGTTATTCTTTGGTTGAATTTTATTCTTGATATGGGGCTTAGGAGTGAGATTTCTGGTCTACAGAAATGATCATGCTCATGAATTTTGACATTTATCGTCATGATGCTTTGCACAAGGGCTGCACCAATTTAGATCATCTTTAGCGGTGAATGAGTGGATTAATTTTACTACAACTACTGATGGTGGTGGTGGAATTTCAGTTGCTTTTTTTTGCGAGGTTAATAGGTCTAAAATTTTACTTTTGTTTGATGACTAGTGGTTTGAATTTTTCGCTGCCTGTTATATTGCTTGTATACTTTGCCTGTTTGTGTCACTGTCCTTTTGGATTGGAGTCATACTGTTTTTTTTTGTTTATTTTAACTTATCTGTATAAAACATTGTATTCAAAACTAGTTATTGTTGGTCAGATTTAATACAAATGTTTTTCCTAATCTGTTTTCTTCTCCTGTGACATTATCTAGCATGCTTTGCAGTGGGTCCAGAGTTGTCTGGGGATCAAGTTTAAGTAGCCCTGGACCAACTGGACTAAATTTGATCAGCAGTCAAATTGTTGCTAAGAGCTATGCACATGGTGCTGTATTTGGGGTAGCTTTTATGAGAAAATAGAAATTAAGATGAAAACTAATTGCCTTTTTTTGGTGTGCTCAGAACATTAACCAGGTGGTATTTGTTGGAAATTTCTTGAGAATTAATACGATCGCCATGCGGCTTTTGGCATATGCTTTGGATTATTGGTCCAAGGGGCAGTTGAAAGCACTTTTTTCGGAACACGAGGTAAGCTGACTTGTTCGTTGTGGTATATTATGTACACAGAGGGCTTGTGGGTCACACTGTCATGGAACTTGAGGTAGAGGGTGGAGGTGAAATGGGCTGCAGTGTTTCTTTTGTTTTTTGTTTTTTTGAGACGGAGTCTCGCTCTGTCACCTAGGTTGGAGTGCGTGGCACAGTCTTGGGGCTCACTGCAGCCTCCGCCTCCTGGGTTCAAGCAGTCCTCCCACCTCAGTCTCTTAAGTAGCTGGGATTACAAGTGTGCGCCCCCACACCCTGCTAATTTTTGTACTTTCAGTAGAAATGGGGTTTCACCATGTTGGCCAAGCTGGTCTGGTCTCAAACTCCTGACCTTAAGTGATCTGCCAGCCTCAGCCTCCCAAAGTTCCAGGATTACAGGTGTGAACCACTGTGCCTGAACTTTTTTGGTAGTTTAATTTCGTAACATTTGAAAGCTGTTTCTTCCCTGATACTAATGCAAGGTAAATTTTGGGTTAATTTAATTGTAAGCTTAAGGAATTTTAGAGAAAAACCCTTGAACATTCCCCTATATTTCTGATGCCATATTTTTGTCTGAACTATCCTCTATATTTTTTCTATTGCACTGACTGTGTCATTACTCTGGGTTCTGGTTTTTTCATTTTTTTCAGTGCCAGTTTTTATATATTGTTGTAATTCTTGTGCCAGTTATTTAAGATGCATGTTGTAAAAATGAATAGATGAGTAAACCTCTCAGACTAGAACCATACTATCATAAGAACTTAAGTACAATTGTAGACAGGCTGGAAATGATGAAATGGAAAAGAATCAAATTGCTCAACCTCATAGCCTGTCTTGGAAAGCACTCTTATTTTTCCTATTTGGGGAAAAAGAAGCAGAGGTATGGAAAGGCGTGTAGGGGTTCTTTCTTCCCTTCTTGGTTGTGGGGCAGTTGAACTATTCTTTCAACTGTTCTTGGATTTTAGATACTGTTATTATGAACATTTTTCAGAATTGTATTGCATATTTAGTTTAACAGTCTATATGAATTAAAGGAAATCAAAGTCCAGATAATAGCACAGATTTGAAGTGCTAGAGATTACTTTTTCCTTTAAAGTTACTTTAAGTTTTTCTTTTTAAATTGCTTTAGTTCATAGTTGAAGTCCAAAGTACACAAATCCCCATATCAAAAAGCTTAAAATTGAAGTCATCTAACTTAGTTTTAAAATTCTAACATTACTGTATTTGTAAACCAGCACCGAATTGCCATTAAGTTTCTTACAGTTCATGTTTCTGTATACATCTTTTTTTGTGATCTGACTTATTTTATTTTGCTTTATATTAGAATTTTTTAAACTCGAATGTTAGATCTTTTTCTGCTTTATTTCTGCCTCTTGTTTAACCTTTTCCTAGGTAGAACATGGAGATTAGTTTTTTAAGTTAACCTTAAAAAAAAAATAGGCTGGGTGCGGTGGCTCACGTCTGTAATCCCAGCACTTTGGGAGGCTGAGATGGGCAGATCACCTAAGGTCAGGAGACCAGCCTGGCCAACCATGGTCAATGTGGCAAAACCCTGTCTCTACTAAAAATACAAAAATTAGCTGGGCGCAATGGCGGGCGCCTATAATCCCCAGCTACTCGGGAGGCTGAGACAGGAGAATCTCTTGAATCTGGGAGGCGGAGGTTGCAGTGAGCTGAGATCGCACCACTGTACTACAGCCTGGGCAACAGAACGAGACTCTGTCTCAAAAACAAAAACAAACAACAACAACAAAACAAACAAAAACACCAAACAGGCCAGGTGCAGCGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGTGGGCGGATCATGAGGTCAGGAGTTCAAGACCAGCCTGACCAACATGGAGAAGCCCTGTCTCTACAAAAAATACAAAAATTAGCTGGACGTGGTGGCACATACCTGTAATCCCAGCTACTTGGGAG
GCATCTGATGAGATTCTAACTGAATATGTGAATATCTGGTATCCAAGCTAGATTTCAGTAGAAACCGCAGGGAAAGCTGTCTGCTCATTTAGAATGTTGGAGGGCTCTGTTTGAAGTTTGCATTTCTCTTTGAACAGATGCTCCATTGCAAAATAAAAGGTTTGAAGATTTCAACAATGTTGCCCTAAAAGCTAATTTTATTTCAATAAAGTAACATTCAAGTTCTGTTGGGCTTTGTTGCTGTTGGTTTAGCAATGGGATTTTTTTTCCCCCATCACAGCTTTGGAAACATGATGAGCAAGGAGAAGCGAGAGGCTGTCAGTAAAGAGGACCTGGCCAGAGCGACTTTGATCACCATCACCAACAACATTGGCTCAATAGCAAGAATGTGTGCCCTTAATGAAGTAAGGGGACATGGATTTCTTTAATTGCTCTAAGGAAAATACTGAACTTAAGTGGGCCCCATCACGTCTGTTTTCTCAGAACAGTGCCTAAATGTAGTCATTTGGGGTGGGGTTTGTTTTAGCACGAAGTTAAAACTCTTCAAATACAGATTAATCTTCTTTTTTTTTTTTTTAAACTGAAGATAAACATTGCTACTTGTCTAGAGGTAAAATGACATCTTTTGAGGAGAAAGTAGAGGAAGAGTGGAAGGTAGCCAGTGTTCCAGATATTGGGGACTGTTGGGGGTGATGATGGATAACGATGCTGAATGTAGACTCCACACTCACTGCTGAGCTCTAGAGGCCCTAGGGAGGAATCCAGAGGAAGTCACGGAAGCTGGGAGAAGACTGAGCAGGCCGAGGGGTGCCCTCCTTGGCTCCCCCACCTCAGCAGAGCTGCGTCTTTGTGCTTTCAGCTTCTTTACAGTGCTGCCTTGTAGCATTCAGGTCAAGCAGCATTGTACAGGGCTATGAAAGAACCAAGAATGGGCTGCCCTTGGGAAAAGAGGATCTAGGATCCAGTTGGTGCAGCTTATGGCTTGTCCCTGTGTGTATAGTTGTTAAATTATTCTTTTATTTTTATTTTTAAGAAGTTATTCTTTAGATAATAATAGGCATGTAGCTTAAAAGGAAACCTCAAAAGACACAAAGGATTTGTCTCATTTTAAATTAAAAAAATACTGTATCAGCATCAAGTAATTAAACATTTGTTGGAATATCATAACTTCTTTTTTCTTTATTGTATGTTCCCTTTCCTGTGCTTACGTATTTTCAGAAATTTTAGTTGGTGTGCATACCACAATTTGTATTTTATACTTAAATATACATTTCATGGTTGTATATTTATTTGATCAAGTTCTTTTATATCAAATAACAGAGCTTGGCATTTGGTTGCTTGCTCATAACTCGGCAGTAAGCATTTTTAAGCATGAAGTTATTCTTTGGTTGAATTTTATTCTTGATATGGGGCTTAGGAGTGAGATTTCTGGTCTACAGAAATGATCATGCTCATGAATTTTGACATTTATCGTCATGATGCTTTGCACAAGGGCTGCACCAATTTAGATCATCTTTAGCGGTGAATGAGTGGATTAATTTTACTACAACTACTGATGGTGGTGGTGGAATTTCAGTTGCTTTTTTTTGCGAGGTTAATAGGTCTAAAATTTTACTTTTGTTTGATGACTAGTGGTTTGAATTTTTCGCTGCCTGTTATATTGCTTGTATACTTTGCCTGTTTGTGTCACTGTCCTTTTGGATTGGAGTCATACTGTTTTTTTTTGTTTATTTTAACTTATCTGTATAAAACATTGTATTCAAAACTAGTTATTGTTGGTCAGATTTAATACAAATGTTTTTCCTAATCTGTTTTCTTCTCCTGTGACATTATCTAGCATGCTTTGCAGTGGGTCCAGAGTTGTCTGGGGATCAAGTTTAAGTAGCCCTGGACCAACTGGACTAAATTTGATCAGCAGTCAAATTGTTGCTAAGAGCTATGCACATGGTGCTGTATTTGGGGTAGCTTTTATGAGAAAATAGAAATTAAGATGAAAACTAATTGCCTTTTTTTGGTGTGCTCAGAACATTAACCAGGTGGTATTTGTTAGAAATTTCTTGAGAATTAATACGATCGCCATGCGGCTTTTGGCATATGCTTTGGATTATTGGTCCAAGGGGCAGTTGAAAGCACTTTTTTCGGAACACGAGGTAAGCTGACTTGTTCGTTGTGGTATATTATGTACACAGAGGGCTTGTGGGTCACACTGTCATGGAACTTGAGGTAGAGGGTGGAGGTGAAATGGGCTGCAGTGTTTCTTTTGTTTTTTGTTTTTTTGAGACGGAGTCTCGCTCTGTCACCTAGGTTGGAGTGCGTGGCACAGTCTTGGGGCTCACTGCAGCCTCCGCCTCCTGGGTTCAAGCAGTCCTCCCACCTCAGTCTCTTAAGTAGCTGGGATTACAAGTGTGCGCCCCCACACCCTGCTAATTTTTGTACTTTCAGTAGAAATGGGGTTTCACCATGTTGGCCAAGCTGGTCTGGTCTCAAACTCCTGACCTTAAGTGATCTGCCAGCCTCAGCCTCCCAAAGTTCCAGGATTACAGGTGTGAACCACTGTGCCTGAACTTTTTTGGTAGTTTAATTTCGTAACATTTGAAAGCTGTTTCTTCCCTGATACTAATGCAAGGTAAATTTTGGGTTAATTTAATTGTAAGCTTAAGGAATTTTAGAGAAAAACCCTTGAACATTCCCCTATATTTCTGATGCCATATTTTTGTCTGAACTATCCTCTATATTTTTTCTATTGCACTGACTGTGTCATTACTCTGGGTTCTGGTTTTTTCATTTTTTTCAGTGCCAGTTTTTATATATTGTTGTAATTCTTGTGCCAGTTATTTAAGATGCATGTTGTAAAAATGAATAGATGAGTAAACCTCTCAGACTAGAACCATACTATCATAAGAACTTAAGTACAATTGTAGACAGGCTGGAAATGATGAAATGGAAAAGAATCAAATTGCTCAACCTCATAGCCTGTCTTGGAAAGCACTCTTATTTTTCCTATTTGGGGAAAAAGAAGCAGAGGTATGGAAAGGCGTGTAGGGGTTCTTTCTTCCCTTCTTGGTTGTGGGGCAGTTGAACTATTCTTTCAACTGTTCTTGGATTTTAGATACTGTTATTATGAACATTTTTCAGAATTGTATTGCATATTTAGTTTAACAGTCTATATGAATTAAAGGAAATCAAAGTCCAGATAATAGCACAGATTTGAAGTGCTAGAGATTACTTTTTCCTTTAAAGTTACTTTAAGTTTTTCTTTTTAAATTGCTTTAGTTCATAGTTGAAGTCCAAAGTACACAAATCCCCATATCAAAAAGCTTAAAATTGAAGTCATCTAACTTAGTTTTAAAATTCTAACATTACTGTATTTGTAAACCAGCACCGAATTGCCATTAAGTTTCTTACAGTTCATGTTTCTGTATACATCTTTTTTTGTGATCTGACTTATTTTATTTTGCTTTATATTAGAATTTTTTAAACTCGAATGTTAGATCTTTTTCTGCTTTATTTCTGCCTCTTGTTTAACCTTTTCCTAGGTAGAACATGGAGATTAGTTTTTTAAGTTAACCTTAAAAAAAAAATAGGCTGGGTGCGGTGGCTCACGTCTGTAATCCCAGCACTTTGGGAGGCTGAGATGGGCAGATCACCTAAGGTCAGGAGACCAGCCTGGCCAACCATGGTCAATGTGGCAAAACCCTGTCTCTACTAAAAATACAAAAATTAGCTGGGCGCAATGGCGGGCGCCTATAATCCCCAGCTACTCGGGAGGCTGAGACAGGAGAATCTCTTGAATCTGGGAGGCGGAGGTTGCAGTGAGCTGAGATCGCACCACTGTACTACAGCCTGGGCAACAGAACGAGACTCTGTCTCAAAAACAAAAACAAACAACAACAACAAAACAAACAAAAACACCAAACAGGCCAGGTGCAGCGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGTGGGCGGATCATGAGGTCAGGAGTTCAAGACCAGCCTGACCAACATGGAGAAGCCCTGTCTCTACAAAAAATACAAAAATTAGCTGGACGTGGTGGCACATACCTGTAATCCCAGCTACTTGGGAG
Task1_train_27671
Chromosome 20 houses a mutation in gene PANK2 (pantothenate kinase 2). Classify its clinical impact — is it pathogenic or benign, and what disease does it lead to if any?
Pathogenic; Inborn genetic diseases
GCATCTGATGAGATTCTAACTGAATATGTGAATATCTGGTATCCAAGCTAGATTTCAGTAGAAACCGCAGGGAAAGCTGTCTGCTCATTTAGAATGTTGGAGGGCTCTGTTTGAAGTTTGCATTTCTCTTTGAACAGATGCTCCATTGCAAAATAAAAGGTTTGAAGATTTCAACAATGTTGCCCTAAAAGCTAATTTTATTTCAATAAAGTAACATTCAAGTTCTGTTGGGCTTTGTTGCTGTTGGTTTAGCAATGGGATTTTTTTTCCCCCATCACAGCTTTGGAAACATGATGAGCAAGGAGAAGCGAGAGGCTGTCAGTAAAGAGGACCTGGCCAGAGCGACTTTGATCACCATCACCAACAACATTGGCTCAATAGCAAGAATGTGTGCCCTTAATGAAGTAAGGGGACATGGATTTCTTTAATTGCTCTAAGGAAAATACTGAACTTAAGTGGGCCCCATCACGTCTGTTTTCTCAGAACAGTGCCTAAATGTAGTCATTTGGGGTGGGGTTTGTTTTAGCACGAAGTTAAAACTCTTCAAATACAGATTAATCTTCTTTTTTTTTTTTTTAAACTGAAGATAAACATTGCTACTTGTCTAGAGGTAAAATGACATCTTTTGAGGAGAAAGTAGAGGAAGAGTGGAAGGTAGCCAGTGTTCCAGATATTGGGGACTGTTGGGGGTGATGATGGATAACGATGCTGAATGTAGACTCCACACTCACTGCTGAGCTCTAGAGGCCCTAGGGAGGAATCCAGAGGAAGTCACGGAAGCTGGGAGAAGACTGAGCAGGCCGAGGGGTGCCCTCCTTGGCTCCCCCACCTCAGCAGAGCTGCGTCTTTGTGCTTTCAGCTTCTTTACAGTGCTGCCTTGTAGCATTCAGGTCAAGCAGCATTGTACAGGGCTATGAAAGAACCAAGAATGGGCTGCCCTTGGGAAAAGAGGATCTAGGATCCAGTTGGTGCAGCTTATGGCTTGTCCCTGTGTGTATAGTTGTTAAATTATTCTTTTATTTTTATTTTTAAGAAGTTATTCTTTAGATAATAATAGGCATGTAGCTTAAAAGGAAACCTCAAAAGACACAAAGGATTTGTCTCATTTTAAATTAAAAAAATACTGTATCAGCATCAAGTAATTAAACATTTGTTGGAATATCATAACTTCTTTTTTCTTTATTGTATGTTCCCTTTCCTGTGCTTACGTATTTTCAGAAATTTTAGTTGGTGTGCATACCACAATTTGTATTTTATACTTAAATATACATTTCATGGTTGTATATTTATTTGATCAAGTTCTTTTATATCAAATAACAGAGCTTGGCATTTGGTTGCTTGCTCATAACTCGGCAGTAAGCATTTTTAAGCATGAAGTTATTCTTTGGTTGAATTTTATTCTTGATATGGGGCTTAGGAGTGAGATTTCTGGTCTACAGAAATGATCATGCTCATGAATTTTGACATTTATCGTCATGATGCTTTGCACAAGGGCTGCACCAATTTAGATCATCTTTAGCGGTGAATGAGTGGATTAATTTTACTACAACTACTGATGGTGGTGGTGGAATTTCAGTTGCTTTTTTTTGCGAGGTTAATAGGTCTAAAATTTTACTTTTGTTTGATGACTAGTGGTTTGAATTTTTCGCTGCCTGTTATATTGCTTGTATACTTTGCCTGTTTGTGTCACTGTCCTTTTGGATTGGAGTCATACTGTTTTTTTTTGTTTATTTTAACTTATCTGTATAAAACATTGTATTCAAAACTAGTTATTGTTGGTCAGATTTAATACAAATGTTTTTCCTAATCTGTTTTCTTCTCCTGTGACATTATCTAGCATGCTTTGCAGTGGGTCCAGAGTTGTCTGGGGATCAAGTTTAAGTAGCCCTGGACCAACTGGACTAAATTTGATCAGCAGTCAAATTGTTGCTAAGAGCTATGCACATGGTGCTGTATTTGGGGTAGCTTTTATGAGAAAATAGAAATTAAGATGAAAACTAATTGCCTTTTTTTGGTGTGCTCAGAACATTAACCAGGTGGTATTTGTTGGAAATTTCTTGAGAATTAATACGATCGCCATGCGGCTTTTGGCATATGCTTTGGATTATTGGTCCAAGGGGCAGTTGAAAGCACTTTTTTCGGAACACGAGGTAAGCTGACTTGTTCGTTGTGGTATATTATGTACACAGAGGGCTTGTGGGTCACACTGTCATGGAACTTGAGGTAGAGGGTGGAGGTGAAATGGGCTGCAGTGTTTCTTTTGTTTTTTGTTTTTTTGAGACGGAGTCTCGCTCTGTCACCTAGGTTGGAGTGCGTGGCACAGTCTTGGGGCTCACTGCAGCCTCCGCCTCCTGGGTTCAAGCAGTCCTCCCACCTCAGTCTCTTAAGTAGCTGGGATTACAAGTGTGCGCCCCCACACCCTGCTAATTTTTGTACTTTCAGTAGAAATGGGGTTTCACCATGTTGGCCAAGCTGGTCTGGTCTCAAACTCCTGACCTTAAGTGATCTGCCAGCCTCAGCCTCCCAAAGTTCCAGGATTACAGGTGTGAACCACTGTGCCTGAACTTTTTTGGTAGTTTAATTTCGTAACATTTGAAAGCTGTTTCTTCCCTGATACTAATGCAAGGTAAATTTTGGGTTAATTTAATTGTAAGCTTAAGGAATTTTAGAGAAAAACCCTTGAACATTCCCCTATATTTCTGATGCCATATTTTTGTCTGAACTATCCTCTATATTTTTTCTATTGCACTGACTGTGTCATTACTCTGGGTTCTGGTTTTTTCATTTTTTTCAGTGCCAGTTTTTATATATTGTTGTAATTCTTGTGCCAGTTATTTAAGATGCATGTTGTAAAAATGAATAGATGAGTAAACCTCTCAGACTAGAACCATACTATCATAAGAACTTAAGTACAATTGTAGACAGGCTGGAAATGATGAAATGGAAAAGAATCAAATTGCTCAACCTCATAGCCTGTCTTGGAAAGCACTCTTATTTTTCCTATTTGGGGAAAAAGAAGCAGAGGTATGGAAAGGCGTGTAGGGGTTCTTTCTTCCCTTCTTGGTTGTGGGGCAGTTGAACTATTCTTTCAACTGTTCTTGGATTTTAGATACTGTTATTATGAACATTTTTCAGAATTGTATTGCATATTTAGTTTAACAGTCTATATGAATTAAAGGAAATCAAAGTCCAGATAATAGCACAGATTTGAAGTGCTAGAGATTACTTTTTCCTTTAAAGTTACTTTAAGTTTTTCTTTTTAAATTGCTTTAGTTCATAGTTGAAGTCCAAAGTACACAAATCCCCATATCAAAAAGCTTAAAATTGAAGTCATCTAACTTAGTTTTAAAATTCTAACATTACTGTATTTGTAAACCAGCACCGAATTGCCATTAAGTTTCTTACAGTTCATGTTTCTGTATACATCTTTTTTTGTGATCTGACTTATTTTATTTTGCTTTATATTAGAATTTTTTAAACTCGAATGTTAGATCTTTTTCTGCTTTATTTCTGCCTCTTGTTTAACCTTTTCCTAGGTAGAACATGGAGATTAGTTTTTTAAGTTAACCTTAAAAAAAAAATAGGCTGGGTGCGGTGGCTCACGTCTGTAATCCCAGCACTTTGGGAGGCTGAGATGGGCAGATCACCTAAGGTCAGGAGACCAGCCTGGCCAACCATGGTCAATGTGGCAAAACCCTGTCTCTACTAAAAATACAAAAATTAGCTGGGCGCAATGGCGGGCGCCTATAATCCCCAGCTACTCGGGAGGCTGAGACAGGAGAATCTCTTGAATCTGGGAGGCGGAGGTTGCAGTGAGCTGAGATCGCACCACTGTACTACAGCCTGGGCAACAGAACGAGACTCTGTCTCAAAAACAAAAACAAACAACAACAACAAAACAAACAAAAACACCAAACAGGCCAGGTGCAGCGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGTGGGCGGATCATGAGGTCAGGAGTTCAAGACCAGCCTGACCAACATGGAGAAGCCCTGTCTCTACAAAAAATACAAAAATTAGCTGGACGTGGTGGCACATACCTGTAATCCCAGCTACTTGGGAG
GCATCTGATGAGATTCTAACTGAATATGTGAATATCTGGTATCCAAGCTAGATTTCAGTAGAAACCGCAGGGAAAGCTGTCTGCTCATTTAGAATGTTGGAGGGCTCTGTTTGAAGTTTGCATTTCTCTTTGAACAGATGCTCCATTGCAAAATAAAAGGTTTGAAGATTTCAACAATGTTGCCCTAAAAGCTAATTTTATTTCAATAAAGTAACATTCAAGTTCTGTTGGGCTTTGTTGCTGTTGGTTTAGCAATGGGATTTTTTTTCCCCCATCACAGCTTTGGAAACATGATGAGCAAGGAGAAGCGAGAGGCTGTCAGTAAAGAGGACCTGGCCAGAGCGACTTTGATCACCATCACCAACAACATTGGCTCAATAGCAAGAATGTGTGCCCTTAATGAAGTAAGGGGACATGGATTTCTTTAATTGCTCTAAGGAAAATACTGAACTTAAGTGGGCCCCATCACGTCTGTTTTCTCAGAACAGTGCCTAAATGTAGTCATTTGGGGTGGGGTTTGTTTTAGCACGAAGTTAAAACTCTTCAAATACAGATTAATCTTCTTTTTTTTTTTTTTAAACTGAAGATAAACATTGCTACTTGTCTAGAGGTAAAATGACATCTTTTGAGGAGAAAGTAGAGGAAGAGTGGAAGGTAGCCAGTGTTCCAGATATTGGGGACTGTTGGGGGTGATGATGGATAACGATGCTGAATGTAGACTCCACACTCACTGCTGAGCTCTAGAGGCCCTAGGGAGGAATCCAGAGGAAGTCACGGAAGCTGGGAGAAGACTGAGCAGGCCGAGGGGTGCCCTCCTTGGCTCCCCCACCTCAGCAGAGCTGCGTCTTTGTGCTTTCAGCTTCTTTACAGTGCTGCCTTGTAGCATTCAGGTCAAGCAGCATTGTACAGGGCTATGAAAGAACCAAGAATGGGCTGCCCTTGGGAAAAGAGGATCTAGGATCCAGTTGGTGCAGCTTATGGCTTGTCCCTGTGTGTATAGTTGTTAAATTATTCTTTTATTTTTATTTTTAAGAAGTTATTCTTTAGATAATAATAGGCATGTAGCTTAAAAGGAAACCTCAAAAGACACAAAGGATTTGTCTCATTTTAAATTAAAAAAATACTGTATCAGCATCAAGTAATTAAACATTTGTTGGAATATCATAACTTCTTTTTTCTTTATTGTATGTTCCCTTTCCTGTGCTTACGTATTTTCAGAAATTTTAGTTGGTGTGCATACCACAATTTGTATTTTATACTTAAATATACATTTCATGGTTGTATATTTATTTGATCAAGTTCTTTTATATCAAATAACAGAGCTTGGCATTTGGTTGCTTGCTCATAACTCGGCAGTAAGCATTTTTAAGCATGAAGTTATTCTTTGGTTGAATTTTATTCTTGATATGGGGCTTAGGAGTGAGATTTCTGGTCTACAGAAATGATCATGCTCATGAATTTTGACATTTATCGTCATGATGCTTTGCACAAGGGCTGCACCAATTTAGATCATCTTTAGCGGTGAATGAGTGGATTAATTTTACTACAACTACTGATGGTGGTGGTGGAATTTCAGTTGCTTTTTTTTGCGAGGTTAATAGGTCTAAAATTTTACTTTTGTTTGATGACTAGTGGTTTGAATTTTTCGCTGCCTGTTATATTGCTTGTATACTTTGCCTGTTTGTGTCACTGTCCTTTTGGATTGGAGTCATACTGTTTTTTTTTGTTTATTTTAACTTATCTGTATAAAACATTGTATTCAAAACTAGTTATTGTTGGTCAGATTTAATACAAATGTTTTTCCTAATCTGTTTTCTTCTCCTGTGACATTATCTAGCATGCTTTGCAGTGGGTCCAGAGTTGTCTGGGGATCAAGTTTAAGTAGCCCTGGACCAACTGGACTAAATTTGATCAGCAGTCAAATTGTTGCTAAGAGCTATGCACATGGTGCTGTATTTGGGGTAGCTTTTATGAGAAAATAGAAATTAAGATGAAAACTAATTGCCTTTTTTTGGTGTGCTCAGAACATTAACCAGGTGGTATTTGTTAGAAATTTCTTGAGAATTAATACGATCGCCATGCGGCTTTTGGCATATGCTTTGGATTATTGGTCCAAGGGGCAGTTGAAAGCACTTTTTTCGGAACACGAGGTAAGCTGACTTGTTCGTTGTGGTATATTATGTACACAGAGGGCTTGTGGGTCACACTGTCATGGAACTTGAGGTAGAGGGTGGAGGTGAAATGGGCTGCAGTGTTTCTTTTGTTTTTTGTTTTTTTGAGACGGAGTCTCGCTCTGTCACCTAGGTTGGAGTGCGTGGCACAGTCTTGGGGCTCACTGCAGCCTCCGCCTCCTGGGTTCAAGCAGTCCTCCCACCTCAGTCTCTTAAGTAGCTGGGATTACAAGTGTGCGCCCCCACACCCTGCTAATTTTTGTACTTTCAGTAGAAATGGGGTTTCACCATGTTGGCCAAGCTGGTCTGGTCTCAAACTCCTGACCTTAAGTGATCTGCCAGCCTCAGCCTCCCAAAGTTCCAGGATTACAGGTGTGAACCACTGTGCCTGAACTTTTTTGGTAGTTTAATTTCGTAACATTTGAAAGCTGTTTCTTCCCTGATACTAATGCAAGGTAAATTTTGGGTTAATTTAATTGTAAGCTTAAGGAATTTTAGAGAAAAACCCTTGAACATTCCCCTATATTTCTGATGCCATATTTTTGTCTGAACTATCCTCTATATTTTTTCTATTGCACTGACTGTGTCATTACTCTGGGTTCTGGTTTTTTCATTTTTTTCAGTGCCAGTTTTTATATATTGTTGTAATTCTTGTGCCAGTTATTTAAGATGCATGTTGTAAAAATGAATAGATGAGTAAACCTCTCAGACTAGAACCATACTATCATAAGAACTTAAGTACAATTGTAGACAGGCTGGAAATGATGAAATGGAAAAGAATCAAATTGCTCAACCTCATAGCCTGTCTTGGAAAGCACTCTTATTTTTCCTATTTGGGGAAAAAGAAGCAGAGGTATGGAAAGGCGTGTAGGGGTTCTTTCTTCCCTTCTTGGTTGTGGGGCAGTTGAACTATTCTTTCAACTGTTCTTGGATTTTAGATACTGTTATTATGAACATTTTTCAGAATTGTATTGCATATTTAGTTTAACAGTCTATATGAATTAAAGGAAATCAAAGTCCAGATAATAGCACAGATTTGAAGTGCTAGAGATTACTTTTTCCTTTAAAGTTACTTTAAGTTTTTCTTTTTAAATTGCTTTAGTTCATAGTTGAAGTCCAAAGTACACAAATCCCCATATCAAAAAGCTTAAAATTGAAGTCATCTAACTTAGTTTTAAAATTCTAACATTACTGTATTTGTAAACCAGCACCGAATTGCCATTAAGTTTCTTACAGTTCATGTTTCTGTATACATCTTTTTTTGTGATCTGACTTATTTTATTTTGCTTTATATTAGAATTTTTTAAACTCGAATGTTAGATCTTTTTCTGCTTTATTTCTGCCTCTTGTTTAACCTTTTCCTAGGTAGAACATGGAGATTAGTTTTTTAAGTTAACCTTAAAAAAAAAATAGGCTGGGTGCGGTGGCTCACGTCTGTAATCCCAGCACTTTGGGAGGCTGAGATGGGCAGATCACCTAAGGTCAGGAGACCAGCCTGGCCAACCATGGTCAATGTGGCAAAACCCTGTCTCTACTAAAAATACAAAAATTAGCTGGGCGCAATGGCGGGCGCCTATAATCCCCAGCTACTCGGGAGGCTGAGACAGGAGAATCTCTTGAATCTGGGAGGCGGAGGTTGCAGTGAGCTGAGATCGCACCACTGTACTACAGCCTGGGCAACAGAACGAGACTCTGTCTCAAAAACAAAAACAAACAACAACAACAAAACAAACAAAAACACCAAACAGGCCAGGTGCAGCGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGTGGGCGGATCATGAGGTCAGGAGTTCAAGACCAGCCTGACCAACATGGAGAAGCCCTGTCTCTACAAAAAATACAAAAATTAGCTGGACGTGGTGGCACATACCTGTAATCCCAGCTACTTGGGAG
Task1_train_27672
This is a variant in PANK2 (pantothenate kinase 2), located on Chromosome 20. Is this mutation a likely cause of disease or not?
Pathogenic; Pigmentary pallidal degeneration
GCATCTGATGAGATTCTAACTGAATATGTGAATATCTGGTATCCAAGCTAGATTTCAGTAGAAACCGCAGGGAAAGCTGTCTGCTCATTTAGAATGTTGGAGGGCTCTGTTTGAAGTTTGCATTTCTCTTTGAACAGATGCTCCATTGCAAAATAAAAGGTTTGAAGATTTCAACAATGTTGCCCTAAAAGCTAATTTTATTTCAATAAAGTAACATTCAAGTTCTGTTGGGCTTTGTTGCTGTTGGTTTAGCAATGGGATTTTTTTTCCCCCATCACAGCTTTGGAAACATGATGAGCAAGGAGAAGCGAGAGGCTGTCAGTAAAGAGGACCTGGCCAGAGCGACTTTGATCACCATCACCAACAACATTGGCTCAATAGCAAGAATGTGTGCCCTTAATGAAGTAAGGGGACATGGATTTCTTTAATTGCTCTAAGGAAAATACTGAACTTAAGTGGGCCCCATCACGTCTGTTTTCTCAGAACAGTGCCTAAATGTAGTCATTTGGGGTGGGGTTTGTTTTAGCACGAAGTTAAAACTCTTCAAATACAGATTAATCTTCTTTTTTTTTTTTTTAAACTGAAGATAAACATTGCTACTTGTCTAGAGGTAAAATGACATCTTTTGAGGAGAAAGTAGAGGAAGAGTGGAAGGTAGCCAGTGTTCCAGATATTGGGGACTGTTGGGGGTGATGATGGATAACGATGCTGAATGTAGACTCCACACTCACTGCTGAGCTCTAGAGGCCCTAGGGAGGAATCCAGAGGAAGTCACGGAAGCTGGGAGAAGACTGAGCAGGCCGAGGGGTGCCCTCCTTGGCTCCCCCACCTCAGCAGAGCTGCGTCTTTGTGCTTTCAGCTTCTTTACAGTGCTGCCTTGTAGCATTCAGGTCAAGCAGCATTGTACAGGGCTATGAAAGAACCAAGAATGGGCTGCCCTTGGGAAAAGAGGATCTAGGATCCAGTTGGTGCAGCTTATGGCTTGTCCCTGTGTGTATAGTTGTTAAATTATTCTTTTATTTTTATTTTTAAGAAGTTATTCTTTAGATAATAATAGGCATGTAGCTTAAAAGGAAACCTCAAAAGACACAAAGGATTTGTCTCATTTTAAATTAAAAAAATACTGTATCAGCATCAAGTAATTAAACATTTGTTGGAATATCATAACTTCTTTTTTCTTTATTGTATGTTCCCTTTCCTGTGCTTACGTATTTTCAGAAATTTTAGTTGGTGTGCATACCACAATTTGTATTTTATACTTAAATATACATTTCATGGTTGTATATTTATTTGATCAAGTTCTTTTATATCAAATAACAGAGCTTGGCATTTGGTTGCTTGCTCATAACTCGGCAGTAAGCATTTTTAAGCATGAAGTTATTCTTTGGTTGAATTTTATTCTTGATATGGGGCTTAGGAGTGAGATTTCTGGTCTACAGAAATGATCATGCTCATGAATTTTGACATTTATCGTCATGATGCTTTGCACAAGGGCTGCACCAATTTAGATCATCTTTAGCGGTGAATGAGTGGATTAATTTTACTACAACTACTGATGGTGGTGGTGGAATTTCAGTTGCTTTTTTTTGCGAGGTTAATAGGTCTAAAATTTTACTTTTGTTTGATGACTAGTGGTTTGAATTTTTCGCTGCCTGTTATATTGCTTGTATACTTTGCCTGTTTGTGTCACTGTCCTTTTGGATTGGAGTCATACTGTTTTTTTTTGTTTATTTTAACTTATCTGTATAAAACATTGTATTCAAAACTAGTTATTGTTGGTCAGATTTAATACAAATGTTTTTCCTAATCTGTTTTCTTCTCCTGTGACATTATCTAGCATGCTTTGCAGTGGGTCCAGAGTTGTCTGGGGATCAAGTTTAAGTAGCCCTGGACCAACTGGACTAAATTTGATCAGCAGTCAAATTGTTGCTAAGAGCTATGCACATGGTGCTGTATTTGGGGTAGCTTTTATGAGAAAATAGAAATTAAGATGAAAACTAATTGCCTTTTTTTGGTGTGCTCAGAACATTAACCAGGTGGTATTTGTTGGAAATTTCTTGAGAATTAATACGATCGCCATGCGGCTTTTGGCATATGCTTTGGATTATTGGTCCAAGGGGCAGTTGAAAGCACTTTTTTCGGAACACGAGGTAAGCTGACTTGTTCGTTGTGGTATATTATGTACACAGAGGGCTTGTGGGTCACACTGTCATGGAACTTGAGGTAGAGGGTGGAGGTGAAATGGGCTGCAGTGTTTCTTTTGTTTTTTGTTTTTTTGAGACGGAGTCTCGCTCTGTCACCTAGGTTGGAGTGCGTGGCACAGTCTTGGGGCTCACTGCAGCCTCCGCCTCCTGGGTTCAAGCAGTCCTCCCACCTCAGTCTCTTAAGTAGCTGGGATTACAAGTGTGCGCCCCCACACCCTGCTAATTTTTGTACTTTCAGTAGAAATGGGGTTTCACCATGTTGGCCAAGCTGGTCTGGTCTCAAACTCCTGACCTTAAGTGATCTGCCAGCCTCAGCCTCCCAAAGTTCCAGGATTACAGGTGTGAACCACTGTGCCTGAACTTTTTTGGTAGTTTAATTTCGTAACATTTGAAAGCTGTTTCTTCCCTGATACTAATGCAAGGTAAATTTTGGGTTAATTTAATTGTAAGCTTAAGGAATTTTAGAGAAAAACCCTTGAACATTCCCCTATATTTCTGATGCCATATTTTTGTCTGAACTATCCTCTATATTTTTTCTATTGCACTGACTGTGTCATTACTCTGGGTTCTGGTTTTTTCATTTTTTTCAGTGCCAGTTTTTATATATTGTTGTAATTCTTGTGCCAGTTATTTAAGATGCATGTTGTAAAAATGAATAGATGAGTAAACCTCTCAGACTAGAACCATACTATCATAAGAACTTAAGTACAATTGTAGACAGGCTGGAAATGATGAAATGGAAAAGAATCAAATTGCTCAACCTCATAGCCTGTCTTGGAAAGCACTCTTATTTTTCCTATTTGGGGAAAAAGAAGCAGAGGTATGGAAAGGCGTGTAGGGGTTCTTTCTTCCCTTCTTGGTTGTGGGGCAGTTGAACTATTCTTTCAACTGTTCTTGGATTTTAGATACTGTTATTATGAACATTTTTCAGAATTGTATTGCATATTTAGTTTAACAGTCTATATGAATTAAAGGAAATCAAAGTCCAGATAATAGCACAGATTTGAAGTGCTAGAGATTACTTTTTCCTTTAAAGTTACTTTAAGTTTTTCTTTTTAAATTGCTTTAGTTCATAGTTGAAGTCCAAAGTACACAAATCCCCATATCAAAAAGCTTAAAATTGAAGTCATCTAACTTAGTTTTAAAATTCTAACATTACTGTATTTGTAAACCAGCACCGAATTGCCATTAAGTTTCTTACAGTTCATGTTTCTGTATACATCTTTTTTTGTGATCTGACTTATTTTATTTTGCTTTATATTAGAATTTTTTAAACTCGAATGTTAGATCTTTTTCTGCTTTATTTCTGCCTCTTGTTTAACCTTTTCCTAGGTAGAACATGGAGATTAGTTTTTTAAGTTAACCTTAAAAAAAAAATAGGCTGGGTGCGGTGGCTCACGTCTGTAATCCCAGCACTTTGGGAGGCTGAGATGGGCAGATCACCTAAGGTCAGGAGACCAGCCTGGCCAACCATGGTCAATGTGGCAAAACCCTGTCTCTACTAAAAATACAAAAATTAGCTGGGCGCAATGGCGGGCGCCTATAATCCCCAGCTACTCGGGAGGCTGAGACAGGAGAATCTCTTGAATCTGGGAGGCGGAGGTTGCAGTGAGCTGAGATCGCACCACTGTACTACAGCCTGGGCAACAGAACGAGACTCTGTCTCAAAAACAAAAACAAACAACAACAACAAAACAAACAAAAACACCAAACAGGCCAGGTGCAGCGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGTGGGCGGATCATGAGGTCAGGAGTTCAAGACCAGCCTGACCAACATGGAGAAGCCCTGTCTCTACAAAAAATACAAAAATTAGCTGGACGTGGTGGCACATACCTGTAATCCCAGCTACTTGGGAG
GCATCTGATGAGATTCTAACTGAATATGTGAATATCTGGTATCCAAGCTAGATTTCAGTAGAAACCGCAGGGAAAGCTGTCTGCTCATTTAGAATGTTGGAGGGCTCTGTTTGAAGTTTGCATTTCTCTTTGAACAGATGCTCCATTGCAAAATAAAAGGTTTGAAGATTTCAACAATGTTGCCCTAAAAGCTAATTTTATTTCAATAAAGTAACATTCAAGTTCTGTTGGGCTTTGTTGCTGTTGGTTTAGCAATGGGATTTTTTTTCCCCCATCACAGCTTTGGAAACATGATGAGCAAGGAGAAGCGAGAGGCTGTCAGTAAAGAGGACCTGGCCAGAGCGACTTTGATCACCATCACCAACAACATTGGCTCAATAGCAAGAATGTGTGCCCTTAATGAAGTAAGGGGACATGGATTTCTTTAATTGCTCTAAGGAAAATACTGAACTTAAGTGGGCCCCATCACGTCTGTTTTCTCAGAACAGTGCCTAAATGTAGTCATTTGGGGTGGGGTTTGTTTTAGCACGAAGTTAAAACTCTTCAAATACAGATTAATCTTCTTTTTTTTTTTTTTAAACTGAAGATAAACATTGCTACTTGTCTAGAGGTAAAATGACATCTTTTGAGGAGAAAGTAGAGGAAGAGTGGAAGGTAGCCAGTGTTCCAGATATTGGGGACTGTTGGGGGTGATGATGGATAACGATGCTGAATGTAGACTCCACACTCACTGCTGAGCTCTAGAGGCCCTAGGGAGGAATCCAGAGGAAGTCACGGAAGCTGGGAGAAGACTGAGCAGGCCGAGGGGTGCCCTCCTTGGCTCCCCCACCTCAGCAGAGCTGCGTCTTTGTGCTTTCAGCTTCTTTACAGTGCTGCCTTGTAGCATTCAGGTCAAGCAGCATTGTACAGGGCTATGAAAGAACCAAGAATGGGCTGCCCTTGGGAAAAGAGGATCTAGGATCCAGTTGGTGCAGCTTATGGCTTGTCCCTGTGTGTATAGTTGTTAAATTATTCTTTTATTTTTATTTTTAAGAAGTTATTCTTTAGATAATAATAGGCATGTAGCTTAAAAGGAAACCTCAAAAGACACAAAGGATTTGTCTCATTTTAAATTAAAAAAATACTGTATCAGCATCAAGTAATTAAACATTTGTTGGAATATCATAACTTCTTTTTTCTTTATTGTATGTTCCCTTTCCTGTGCTTACGTATTTTCAGAAATTTTAGTTGGTGTGCATACCACAATTTGTATTTTATACTTAAATATACATTTCATGGTTGTATATTTATTTGATCAAGTTCTTTTATATCAAATAACAGAGCTTGGCATTTGGTTGCTTGCTCATAACTCGGCAGTAAGCATTTTTAAGCATGAAGTTATTCTTTGGTTGAATTTTATTCTTGATATGGGGCTTAGGAGTGAGATTTCTGGTCTACAGAAATGATCATGCTCATGAATTTTGACATTTATCGTCATGATGCTTTGCACAAGGGCTGCACCAATTTAGATCATCTTTAGCGGTGAATGAGTGGATTAATTTTACTACAACTACTGATGGTGGTGGTGGAATTTCAGTTGCTTTTTTTTGCGAGGTTAATAGGTCTAAAATTTTACTTTTGTTTGATGACTAGTGGTTTGAATTTTTCGCTGCCTGTTATATTGCTTGTATACTTTGCCTGTTTGTGTCACTGTCCTTTTGGATTGGAGTCATACTGTTTTTTTTTGTTTATTTTAACTTATCTGTATAAAACATTGTATTCAAAACTAGTTATTGTTGGTCAGATTTAATACAAATGTTTTTCCTAATCTGTTTTCTTCTCCTGTGACATTATCTAGCATGCTTTGCAGTGGGTCCAGAGTTGTCTGGGGATCAAGTTTAAGTAGCCCTGGACCAACTGGACTAAATTTGATCAGCAGTCAAATTGTTGCTAAGAGCTATGCACATGGTGCTGTATTTGGGGTAGCTTTTATGAGAAAATAGAAATTAAGATGAAAACTAATTGCCTTTTTTTGGTGTGCTCAGAACATTAACCAGGTGGTATTTGTTAGAAATTTCTTGAGAATTAATACGATCGCCATGCGGCTTTTGGCATATGCTTTGGATTATTGGTCCAAGGGGCAGTTGAAAGCACTTTTTTCGGAACACGAGGTAAGCTGACTTGTTCGTTGTGGTATATTATGTACACAGAGGGCTTGTGGGTCACACTGTCATGGAACTTGAGGTAGAGGGTGGAGGTGAAATGGGCTGCAGTGTTTCTTTTGTTTTTTGTTTTTTTGAGACGGAGTCTCGCTCTGTCACCTAGGTTGGAGTGCGTGGCACAGTCTTGGGGCTCACTGCAGCCTCCGCCTCCTGGGTTCAAGCAGTCCTCCCACCTCAGTCTCTTAAGTAGCTGGGATTACAAGTGTGCGCCCCCACACCCTGCTAATTTTTGTACTTTCAGTAGAAATGGGGTTTCACCATGTTGGCCAAGCTGGTCTGGTCTCAAACTCCTGACCTTAAGTGATCTGCCAGCCTCAGCCTCCCAAAGTTCCAGGATTACAGGTGTGAACCACTGTGCCTGAACTTTTTTGGTAGTTTAATTTCGTAACATTTGAAAGCTGTTTCTTCCCTGATACTAATGCAAGGTAAATTTTGGGTTAATTTAATTGTAAGCTTAAGGAATTTTAGAGAAAAACCCTTGAACATTCCCCTATATTTCTGATGCCATATTTTTGTCTGAACTATCCTCTATATTTTTTCTATTGCACTGACTGTGTCATTACTCTGGGTTCTGGTTTTTTCATTTTTTTCAGTGCCAGTTTTTATATATTGTTGTAATTCTTGTGCCAGTTATTTAAGATGCATGTTGTAAAAATGAATAGATGAGTAAACCTCTCAGACTAGAACCATACTATCATAAGAACTTAAGTACAATTGTAGACAGGCTGGAAATGATGAAATGGAAAAGAATCAAATTGCTCAACCTCATAGCCTGTCTTGGAAAGCACTCTTATTTTTCCTATTTGGGGAAAAAGAAGCAGAGGTATGGAAAGGCGTGTAGGGGTTCTTTCTTCCCTTCTTGGTTGTGGGGCAGTTGAACTATTCTTTCAACTGTTCTTGGATTTTAGATACTGTTATTATGAACATTTTTCAGAATTGTATTGCATATTTAGTTTAACAGTCTATATGAATTAAAGGAAATCAAAGTCCAGATAATAGCACAGATTTGAAGTGCTAGAGATTACTTTTTCCTTTAAAGTTACTTTAAGTTTTTCTTTTTAAATTGCTTTAGTTCATAGTTGAAGTCCAAAGTACACAAATCCCCATATCAAAAAGCTTAAAATTGAAGTCATCTAACTTAGTTTTAAAATTCTAACATTACTGTATTTGTAAACCAGCACCGAATTGCCATTAAGTTTCTTACAGTTCATGTTTCTGTATACATCTTTTTTTGTGATCTGACTTATTTTATTTTGCTTTATATTAGAATTTTTTAAACTCGAATGTTAGATCTTTTTCTGCTTTATTTCTGCCTCTTGTTTAACCTTTTCCTAGGTAGAACATGGAGATTAGTTTTTTAAGTTAACCTTAAAAAAAAAATAGGCTGGGTGCGGTGGCTCACGTCTGTAATCCCAGCACTTTGGGAGGCTGAGATGGGCAGATCACCTAAGGTCAGGAGACCAGCCTGGCCAACCATGGTCAATGTGGCAAAACCCTGTCTCTACTAAAAATACAAAAATTAGCTGGGCGCAATGGCGGGCGCCTATAATCCCCAGCTACTCGGGAGGCTGAGACAGGAGAATCTCTTGAATCTGGGAGGCGGAGGTTGCAGTGAGCTGAGATCGCACCACTGTACTACAGCCTGGGCAACAGAACGAGACTCTGTCTCAAAAACAAAAACAAACAACAACAACAAAACAAACAAAAACACCAAACAGGCCAGGTGCAGCGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGTGGGCGGATCATGAGGTCAGGAGTTCAAGACCAGCCTGACCAACATGGAGAAGCCCTGTCTCTACAAAAAATACAAAAATTAGCTGGACGTGGTGGCACATACCTGTAATCCCAGCTACTTGGGAG
Task1_train_27673
A mutation in PANK2 (pantothenate kinase 2), located on Chromosome 20, is being studied. Determine whether it’s pathogenic or benign, and specify the linked disease.
Pathogenic; Hypoprebetalipoproteinemia, acanthocytosis, retinitis pigmentosa, and pallidal degeneration
GCATCTGATGAGATTCTAACTGAATATGTGAATATCTGGTATCCAAGCTAGATTTCAGTAGAAACCGCAGGGAAAGCTGTCTGCTCATTTAGAATGTTGGAGGGCTCTGTTTGAAGTTTGCATTTCTCTTTGAACAGATGCTCCATTGCAAAATAAAAGGTTTGAAGATTTCAACAATGTTGCCCTAAAAGCTAATTTTATTTCAATAAAGTAACATTCAAGTTCTGTTGGGCTTTGTTGCTGTTGGTTTAGCAATGGGATTTTTTTTCCCCCATCACAGCTTTGGAAACATGATGAGCAAGGAGAAGCGAGAGGCTGTCAGTAAAGAGGACCTGGCCAGAGCGACTTTGATCACCATCACCAACAACATTGGCTCAATAGCAAGAATGTGTGCCCTTAATGAAGTAAGGGGACATGGATTTCTTTAATTGCTCTAAGGAAAATACTGAACTTAAGTGGGCCCCATCACGTCTGTTTTCTCAGAACAGTGCCTAAATGTAGTCATTTGGGGTGGGGTTTGTTTTAGCACGAAGTTAAAACTCTTCAAATACAGATTAATCTTCTTTTTTTTTTTTTTAAACTGAAGATAAACATTGCTACTTGTCTAGAGGTAAAATGACATCTTTTGAGGAGAAAGTAGAGGAAGAGTGGAAGGTAGCCAGTGTTCCAGATATTGGGGACTGTTGGGGGTGATGATGGATAACGATGCTGAATGTAGACTCCACACTCACTGCTGAGCTCTAGAGGCCCTAGGGAGGAATCCAGAGGAAGTCACGGAAGCTGGGAGAAGACTGAGCAGGCCGAGGGGTGCCCTCCTTGGCTCCCCCACCTCAGCAGAGCTGCGTCTTTGTGCTTTCAGCTTCTTTACAGTGCTGCCTTGTAGCATTCAGGTCAAGCAGCATTGTACAGGGCTATGAAAGAACCAAGAATGGGCTGCCCTTGGGAAAAGAGGATCTAGGATCCAGTTGGTGCAGCTTATGGCTTGTCCCTGTGTGTATAGTTGTTAAATTATTCTTTTATTTTTATTTTTAAGAAGTTATTCTTTAGATAATAATAGGCATGTAGCTTAAAAGGAAACCTCAAAAGACACAAAGGATTTGTCTCATTTTAAATTAAAAAAATACTGTATCAGCATCAAGTAATTAAACATTTGTTGGAATATCATAACTTCTTTTTTCTTTATTGTATGTTCCCTTTCCTGTGCTTACGTATTTTCAGAAATTTTAGTTGGTGTGCATACCACAATTTGTATTTTATACTTAAATATACATTTCATGGTTGTATATTTATTTGATCAAGTTCTTTTATATCAAATAACAGAGCTTGGCATTTGGTTGCTTGCTCATAACTCGGCAGTAAGCATTTTTAAGCATGAAGTTATTCTTTGGTTGAATTTTATTCTTGATATGGGGCTTAGGAGTGAGATTTCTGGTCTACAGAAATGATCATGCTCATGAATTTTGACATTTATCGTCATGATGCTTTGCACAAGGGCTGCACCAATTTAGATCATCTTTAGCGGTGAATGAGTGGATTAATTTTACTACAACTACTGATGGTGGTGGTGGAATTTCAGTTGCTTTTTTTTGCGAGGTTAATAGGTCTAAAATTTTACTTTTGTTTGATGACTAGTGGTTTGAATTTTTCGCTGCCTGTTATATTGCTTGTATACTTTGCCTGTTTGTGTCACTGTCCTTTTGGATTGGAGTCATACTGTTTTTTTTTGTTTATTTTAACTTATCTGTATAAAACATTGTATTCAAAACTAGTTATTGTTGGTCAGATTTAATACAAATGTTTTTCCTAATCTGTTTTCTTCTCCTGTGACATTATCTAGCATGCTTTGCAGTGGGTCCAGAGTTGTCTGGGGATCAAGTTTAAGTAGCCCTGGACCAACTGGACTAAATTTGATCAGCAGTCAAATTGTTGCTAAGAGCTATGCACATGGTGCTGTATTTGGGGTAGCTTTTATGAGAAAATAGAAATTAAGATGAAAACTAATTGCCTTTTTTTGGTGTGCTCAGAACATTAACCAGGTGGTATTTGTTGGAAATTTCTTGAGAATTAATACGATCGCCATGCGGCTTTTGGCATATGCTTTGGATTATTGGTCCAAGGGGCAGTTGAAAGCACTTTTTTCGGAACACGAGGTAAGCTGACTTGTTCGTTGTGGTATATTATGTACACAGAGGGCTTGTGGGTCACACTGTCATGGAACTTGAGGTAGAGGGTGGAGGTGAAATGGGCTGCAGTGTTTCTTTTGTTTTTTGTTTTTTTGAGACGGAGTCTCGCTCTGTCACCTAGGTTGGAGTGCGTGGCACAGTCTTGGGGCTCACTGCAGCCTCCGCCTCCTGGGTTCAAGCAGTCCTCCCACCTCAGTCTCTTAAGTAGCTGGGATTACAAGTGTGCGCCCCCACACCCTGCTAATTTTTGTACTTTCAGTAGAAATGGGGTTTCACCATGTTGGCCAAGCTGGTCTGGTCTCAAACTCCTGACCTTAAGTGATCTGCCAGCCTCAGCCTCCCAAAGTTCCAGGATTACAGGTGTGAACCACTGTGCCTGAACTTTTTTGGTAGTTTAATTTCGTAACATTTGAAAGCTGTTTCTTCCCTGATACTAATGCAAGGTAAATTTTGGGTTAATTTAATTGTAAGCTTAAGGAATTTTAGAGAAAAACCCTTGAACATTCCCCTATATTTCTGATGCCATATTTTTGTCTGAACTATCCTCTATATTTTTTCTATTGCACTGACTGTGTCATTACTCTGGGTTCTGGTTTTTTCATTTTTTTCAGTGCCAGTTTTTATATATTGTTGTAATTCTTGTGCCAGTTATTTAAGATGCATGTTGTAAAAATGAATAGATGAGTAAACCTCTCAGACTAGAACCATACTATCATAAGAACTTAAGTACAATTGTAGACAGGCTGGAAATGATGAAATGGAAAAGAATCAAATTGCTCAACCTCATAGCCTGTCTTGGAAAGCACTCTTATTTTTCCTATTTGGGGAAAAAGAAGCAGAGGTATGGAAAGGCGTGTAGGGGTTCTTTCTTCCCTTCTTGGTTGTGGGGCAGTTGAACTATTCTTTCAACTGTTCTTGGATTTTAGATACTGTTATTATGAACATTTTTCAGAATTGTATTGCATATTTAGTTTAACAGTCTATATGAATTAAAGGAAATCAAAGTCCAGATAATAGCACAGATTTGAAGTGCTAGAGATTACTTTTTCCTTTAAAGTTACTTTAAGTTTTTCTTTTTAAATTGCTTTAGTTCATAGTTGAAGTCCAAAGTACACAAATCCCCATATCAAAAAGCTTAAAATTGAAGTCATCTAACTTAGTTTTAAAATTCTAACATTACTGTATTTGTAAACCAGCACCGAATTGCCATTAAGTTTCTTACAGTTCATGTTTCTGTATACATCTTTTTTTGTGATCTGACTTATTTTATTTTGCTTTATATTAGAATTTTTTAAACTCGAATGTTAGATCTTTTTCTGCTTTATTTCTGCCTCTTGTTTAACCTTTTCCTAGGTAGAACATGGAGATTAGTTTTTTAAGTTAACCTTAAAAAAAAAATAGGCTGGGTGCGGTGGCTCACGTCTGTAATCCCAGCACTTTGGGAGGCTGAGATGGGCAGATCACCTAAGGTCAGGAGACCAGCCTGGCCAACCATGGTCAATGTGGCAAAACCCTGTCTCTACTAAAAATACAAAAATTAGCTGGGCGCAATGGCGGGCGCCTATAATCCCCAGCTACTCGGGAGGCTGAGACAGGAGAATCTCTTGAATCTGGGAGGCGGAGGTTGCAGTGAGCTGAGATCGCACCACTGTACTACAGCCTGGGCAACAGAACGAGACTCTGTCTCAAAAACAAAAACAAACAACAACAACAAAACAAACAAAAACACCAAACAGGCCAGGTGCAGCGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGTGGGCGGATCATGAGGTCAGGAGTTCAAGACCAGCCTGACCAACATGGAGAAGCCCTGTCTCTACAAAAAATACAAAAATTAGCTGGACGTGGTGGCACATACCTGTAATCCCAGCTACTTGGGAG
GCATCTGATGAGATTCTAACTGAATATGTGAATATCTGGTATCCAAGCTAGATTTCAGTAGAAACCGCAGGGAAAGCTGTCTGCTCATTTAGAATGTTGGAGGGCTCTGTTTGAAGTTTGCATTTCTCTTTGAACAGATGCTCCATTGCAAAATAAAAGGTTTGAAGATTTCAACAATGTTGCCCTAAAAGCTAATTTTATTTCAATAAAGTAACATTCAAGTTCTGTTGGGCTTTGTTGCTGTTGGTTTAGCAATGGGATTTTTTTTCCCCCATCACAGCTTTGGAAACATGATGAGCAAGGAGAAGCGAGAGGCTGTCAGTAAAGAGGACCTGGCCAGAGCGACTTTGATCACCATCACCAACAACATTGGCTCAATAGCAAGAATGTGTGCCCTTAATGAAGTAAGGGGACATGGATTTCTTTAATTGCTCTAAGGAAAATACTGAACTTAAGTGGGCCCCATCACGTCTGTTTTCTCAGAACAGTGCCTAAATGTAGTCATTTGGGGTGGGGTTTGTTTTAGCACGAAGTTAAAACTCTTCAAATACAGATTAATCTTCTTTTTTTTTTTTTTAAACTGAAGATAAACATTGCTACTTGTCTAGAGGTAAAATGACATCTTTTGAGGAGAAAGTAGAGGAAGAGTGGAAGGTAGCCAGTGTTCCAGATATTGGGGACTGTTGGGGGTGATGATGGATAACGATGCTGAATGTAGACTCCACACTCACTGCTGAGCTCTAGAGGCCCTAGGGAGGAATCCAGAGGAAGTCACGGAAGCTGGGAGAAGACTGAGCAGGCCGAGGGGTGCCCTCCTTGGCTCCCCCACCTCAGCAGAGCTGCGTCTTTGTGCTTTCAGCTTCTTTACAGTGCTGCCTTGTAGCATTCAGGTCAAGCAGCATTGTACAGGGCTATGAAAGAACCAAGAATGGGCTGCCCTTGGGAAAAGAGGATCTAGGATCCAGTTGGTGCAGCTTATGGCTTGTCCCTGTGTGTATAGTTGTTAAATTATTCTTTTATTTTTATTTTTAAGAAGTTATTCTTTAGATAATAATAGGCATGTAGCTTAAAAGGAAACCTCAAAAGACACAAAGGATTTGTCTCATTTTAAATTAAAAAAATACTGTATCAGCATCAAGTAATTAAACATTTGTTGGAATATCATAACTTCTTTTTTCTTTATTGTATGTTCCCTTTCCTGTGCTTACGTATTTTCAGAAATTTTAGTTGGTGTGCATACCACAATTTGTATTTTATACTTAAATATACATTTCATGGTTGTATATTTATTTGATCAAGTTCTTTTATATCAAATAACAGAGCTTGGCATTTGGTTGCTTGCTCATAACTCGGCAGTAAGCATTTTTAAGCATGAAGTTATTCTTTGGTTGAATTTTATTCTTGATATGGGGCTTAGGAGTGAGATTTCTGGTCTACAGAAATGATCATGCTCATGAATTTTGACATTTATCGTCATGATGCTTTGCACAAGGGCTGCACCAATTTAGATCATCTTTAGCGGTGAATGAGTGGATTAATTTTACTACAACTACTGATGGTGGTGGTGGAATTTCAGTTGCTTTTTTTTGCGAGGTTAATAGGTCTAAAATTTTACTTTTGTTTGATGACTAGTGGTTTGAATTTTTCGCTGCCTGTTATATTGCTTGTATACTTTGCCTGTTTGTGTCACTGTCCTTTTGGATTGGAGTCATACTGTTTTTTTTTGTTTATTTTAACTTATCTGTATAAAACATTGTATTCAAAACTAGTTATTGTTGGTCAGATTTAATACAAATGTTTTTCCTAATCTGTTTTCTTCTCCTGTGACATTATCTAGCATGCTTTGCAGTGGGTCCAGAGTTGTCTGGGGATCAAGTTTAAGTAGCCCTGGACCAACTGGACTAAATTTGATCAGCAGTCAAATTGTTGCTAAGAGCTATGCACATGGTGCTGTATTTGGGGTAGCTTTTATGAGAAAATAGAAATTAAGATGAAAACTAATTGCCTTTTTTTGGTGTGCTCAGAACATTAACCAGGTGGTATTTGTTAGAAATTTCTTGAGAATTAATACGATCGCCATGCGGCTTTTGGCATATGCTTTGGATTATTGGTCCAAGGGGCAGTTGAAAGCACTTTTTTCGGAACACGAGGTAAGCTGACTTGTTCGTTGTGGTATATTATGTACACAGAGGGCTTGTGGGTCACACTGTCATGGAACTTGAGGTAGAGGGTGGAGGTGAAATGGGCTGCAGTGTTTCTTTTGTTTTTTGTTTTTTTGAGACGGAGTCTCGCTCTGTCACCTAGGTTGGAGTGCGTGGCACAGTCTTGGGGCTCACTGCAGCCTCCGCCTCCTGGGTTCAAGCAGTCCTCCCACCTCAGTCTCTTAAGTAGCTGGGATTACAAGTGTGCGCCCCCACACCCTGCTAATTTTTGTACTTTCAGTAGAAATGGGGTTTCACCATGTTGGCCAAGCTGGTCTGGTCTCAAACTCCTGACCTTAAGTGATCTGCCAGCCTCAGCCTCCCAAAGTTCCAGGATTACAGGTGTGAACCACTGTGCCTGAACTTTTTTGGTAGTTTAATTTCGTAACATTTGAAAGCTGTTTCTTCCCTGATACTAATGCAAGGTAAATTTTGGGTTAATTTAATTGTAAGCTTAAGGAATTTTAGAGAAAAACCCTTGAACATTCCCCTATATTTCTGATGCCATATTTTTGTCTGAACTATCCTCTATATTTTTTCTATTGCACTGACTGTGTCATTACTCTGGGTTCTGGTTTTTTCATTTTTTTCAGTGCCAGTTTTTATATATTGTTGTAATTCTTGTGCCAGTTATTTAAGATGCATGTTGTAAAAATGAATAGATGAGTAAACCTCTCAGACTAGAACCATACTATCATAAGAACTTAAGTACAATTGTAGACAGGCTGGAAATGATGAAATGGAAAAGAATCAAATTGCTCAACCTCATAGCCTGTCTTGGAAAGCACTCTTATTTTTCCTATTTGGGGAAAAAGAAGCAGAGGTATGGAAAGGCGTGTAGGGGTTCTTTCTTCCCTTCTTGGTTGTGGGGCAGTTGAACTATTCTTTCAACTGTTCTTGGATTTTAGATACTGTTATTATGAACATTTTTCAGAATTGTATTGCATATTTAGTTTAACAGTCTATATGAATTAAAGGAAATCAAAGTCCAGATAATAGCACAGATTTGAAGTGCTAGAGATTACTTTTTCCTTTAAAGTTACTTTAAGTTTTTCTTTTTAAATTGCTTTAGTTCATAGTTGAAGTCCAAAGTACACAAATCCCCATATCAAAAAGCTTAAAATTGAAGTCATCTAACTTAGTTTTAAAATTCTAACATTACTGTATTTGTAAACCAGCACCGAATTGCCATTAAGTTTCTTACAGTTCATGTTTCTGTATACATCTTTTTTTGTGATCTGACTTATTTTATTTTGCTTTATATTAGAATTTTTTAAACTCGAATGTTAGATCTTTTTCTGCTTTATTTCTGCCTCTTGTTTAACCTTTTCCTAGGTAGAACATGGAGATTAGTTTTTTAAGTTAACCTTAAAAAAAAAATAGGCTGGGTGCGGTGGCTCACGTCTGTAATCCCAGCACTTTGGGAGGCTGAGATGGGCAGATCACCTAAGGTCAGGAGACCAGCCTGGCCAACCATGGTCAATGTGGCAAAACCCTGTCTCTACTAAAAATACAAAAATTAGCTGGGCGCAATGGCGGGCGCCTATAATCCCCAGCTACTCGGGAGGCTGAGACAGGAGAATCTCTTGAATCTGGGAGGCGGAGGTTGCAGTGAGCTGAGATCGCACCACTGTACTACAGCCTGGGCAACAGAACGAGACTCTGTCTCAAAAACAAAAACAAACAACAACAACAAAACAAACAAAAACACCAAACAGGCCAGGTGCAGCGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGTGGGCGGATCATGAGGTCAGGAGTTCAAGACCAGCCTGACCAACATGGAGAAGCCCTGTCTCTACAAAAAATACAAAAATTAGCTGGACGTGGTGGCACATACCTGTAATCCCAGCTACTTGGGAG
Task1_train_27674
Consider a variant on Chromosome 20 in gene PANK2 (pantothenate kinase 2). Determine its clinical classification and disease relevance.
Pathogenic; Retinitis pigmentosa
GCATCTGATGAGATTCTAACTGAATATGTGAATATCTGGTATCCAAGCTAGATTTCAGTAGAAACCGCAGGGAAAGCTGTCTGCTCATTTAGAATGTTGGAGGGCTCTGTTTGAAGTTTGCATTTCTCTTTGAACAGATGCTCCATTGCAAAATAAAAGGTTTGAAGATTTCAACAATGTTGCCCTAAAAGCTAATTTTATTTCAATAAAGTAACATTCAAGTTCTGTTGGGCTTTGTTGCTGTTGGTTTAGCAATGGGATTTTTTTTCCCCCATCACAGCTTTGGAAACATGATGAGCAAGGAGAAGCGAGAGGCTGTCAGTAAAGAGGACCTGGCCAGAGCGACTTTGATCACCATCACCAACAACATTGGCTCAATAGCAAGAATGTGTGCCCTTAATGAAGTAAGGGGACATGGATTTCTTTAATTGCTCTAAGGAAAATACTGAACTTAAGTGGGCCCCATCACGTCTGTTTTCTCAGAACAGTGCCTAAATGTAGTCATTTGGGGTGGGGTTTGTTTTAGCACGAAGTTAAAACTCTTCAAATACAGATTAATCTTCTTTTTTTTTTTTTTAAACTGAAGATAAACATTGCTACTTGTCTAGAGGTAAAATGACATCTTTTGAGGAGAAAGTAGAGGAAGAGTGGAAGGTAGCCAGTGTTCCAGATATTGGGGACTGTTGGGGGTGATGATGGATAACGATGCTGAATGTAGACTCCACACTCACTGCTGAGCTCTAGAGGCCCTAGGGAGGAATCCAGAGGAAGTCACGGAAGCTGGGAGAAGACTGAGCAGGCCGAGGGGTGCCCTCCTTGGCTCCCCCACCTCAGCAGAGCTGCGTCTTTGTGCTTTCAGCTTCTTTACAGTGCTGCCTTGTAGCATTCAGGTCAAGCAGCATTGTACAGGGCTATGAAAGAACCAAGAATGGGCTGCCCTTGGGAAAAGAGGATCTAGGATCCAGTTGGTGCAGCTTATGGCTTGTCCCTGTGTGTATAGTTGTTAAATTATTCTTTTATTTTTATTTTTAAGAAGTTATTCTTTAGATAATAATAGGCATGTAGCTTAAAAGGAAACCTCAAAAGACACAAAGGATTTGTCTCATTTTAAATTAAAAAAATACTGTATCAGCATCAAGTAATTAAACATTTGTTGGAATATCATAACTTCTTTTTTCTTTATTGTATGTTCCCTTTCCTGTGCTTACGTATTTTCAGAAATTTTAGTTGGTGTGCATACCACAATTTGTATTTTATACTTAAATATACATTTCATGGTTGTATATTTATTTGATCAAGTTCTTTTATATCAAATAACAGAGCTTGGCATTTGGTTGCTTGCTCATAACTCGGCAGTAAGCATTTTTAAGCATGAAGTTATTCTTTGGTTGAATTTTATTCTTGATATGGGGCTTAGGAGTGAGATTTCTGGTCTACAGAAATGATCATGCTCATGAATTTTGACATTTATCGTCATGATGCTTTGCACAAGGGCTGCACCAATTTAGATCATCTTTAGCGGTGAATGAGTGGATTAATTTTACTACAACTACTGATGGTGGTGGTGGAATTTCAGTTGCTTTTTTTTGCGAGGTTAATAGGTCTAAAATTTTACTTTTGTTTGATGACTAGTGGTTTGAATTTTTCGCTGCCTGTTATATTGCTTGTATACTTTGCCTGTTTGTGTCACTGTCCTTTTGGATTGGAGTCATACTGTTTTTTTTTGTTTATTTTAACTTATCTGTATAAAACATTGTATTCAAAACTAGTTATTGTTGGTCAGATTTAATACAAATGTTTTTCCTAATCTGTTTTCTTCTCCTGTGACATTATCTAGCATGCTTTGCAGTGGGTCCAGAGTTGTCTGGGGATCAAGTTTAAGTAGCCCTGGACCAACTGGACTAAATTTGATCAGCAGTCAAATTGTTGCTAAGAGCTATGCACATGGTGCTGTATTTGGGGTAGCTTTTATGAGAAAATAGAAATTAAGATGAAAACTAATTGCCTTTTTTTGGTGTGCTCAGAACATTAACCAGGTGGTATTTGTTGGAAATTTCTTGAGAATTAATACGATCGCCATGCGGCTTTTGGCATATGCTTTGGATTATTGGTCCAAGGGGCAGTTGAAAGCACTTTTTTCGGAACACGAGGTAAGCTGACTTGTTCGTTGTGGTATATTATGTACACAGAGGGCTTGTGGGTCACACTGTCATGGAACTTGAGGTAGAGGGTGGAGGTGAAATGGGCTGCAGTGTTTCTTTTGTTTTTTGTTTTTTTGAGACGGAGTCTCGCTCTGTCACCTAGGTTGGAGTGCGTGGCACAGTCTTGGGGCTCACTGCAGCCTCCGCCTCCTGGGTTCAAGCAGTCCTCCCACCTCAGTCTCTTAAGTAGCTGGGATTACAAGTGTGCGCCCCCACACCCTGCTAATTTTTGTACTTTCAGTAGAAATGGGGTTTCACCATGTTGGCCAAGCTGGTCTGGTCTCAAACTCCTGACCTTAAGTGATCTGCCAGCCTCAGCCTCCCAAAGTTCCAGGATTACAGGTGTGAACCACTGTGCCTGAACTTTTTTGGTAGTTTAATTTCGTAACATTTGAAAGCTGTTTCTTCCCTGATACTAATGCAAGGTAAATTTTGGGTTAATTTAATTGTAAGCTTAAGGAATTTTAGAGAAAAACCCTTGAACATTCCCCTATATTTCTGATGCCATATTTTTGTCTGAACTATCCTCTATATTTTTTCTATTGCACTGACTGTGTCATTACTCTGGGTTCTGGTTTTTTCATTTTTTTCAGTGCCAGTTTTTATATATTGTTGTAATTCTTGTGCCAGTTATTTAAGATGCATGTTGTAAAAATGAATAGATGAGTAAACCTCTCAGACTAGAACCATACTATCATAAGAACTTAAGTACAATTGTAGACAGGCTGGAAATGATGAAATGGAAAAGAATCAAATTGCTCAACCTCATAGCCTGTCTTGGAAAGCACTCTTATTTTTCCTATTTGGGGAAAAAGAAGCAGAGGTATGGAAAGGCGTGTAGGGGTTCTTTCTTCCCTTCTTGGTTGTGGGGCAGTTGAACTATTCTTTCAACTGTTCTTGGATTTTAGATACTGTTATTATGAACATTTTTCAGAATTGTATTGCATATTTAGTTTAACAGTCTATATGAATTAAAGGAAATCAAAGTCCAGATAATAGCACAGATTTGAAGTGCTAGAGATTACTTTTTCCTTTAAAGTTACTTTAAGTTTTTCTTTTTAAATTGCTTTAGTTCATAGTTGAAGTCCAAAGTACACAAATCCCCATATCAAAAAGCTTAAAATTGAAGTCATCTAACTTAGTTTTAAAATTCTAACATTACTGTATTTGTAAACCAGCACCGAATTGCCATTAAGTTTCTTACAGTTCATGTTTCTGTATACATCTTTTTTTGTGATCTGACTTATTTTATTTTGCTTTATATTAGAATTTTTTAAACTCGAATGTTAGATCTTTTTCTGCTTTATTTCTGCCTCTTGTTTAACCTTTTCCTAGGTAGAACATGGAGATTAGTTTTTTAAGTTAACCTTAAAAAAAAAATAGGCTGGGTGCGGTGGCTCACGTCTGTAATCCCAGCACTTTGGGAGGCTGAGATGGGCAGATCACCTAAGGTCAGGAGACCAGCCTGGCCAACCATGGTCAATGTGGCAAAACCCTGTCTCTACTAAAAATACAAAAATTAGCTGGGCGCAATGGCGGGCGCCTATAATCCCCAGCTACTCGGGAGGCTGAGACAGGAGAATCTCTTGAATCTGGGAGGCGGAGGTTGCAGTGAGCTGAGATCGCACCACTGTACTACAGCCTGGGCAACAGAACGAGACTCTGTCTCAAAAACAAAAACAAACAACAACAACAAAACAAACAAAAACACCAAACAGGCCAGGTGCAGCGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGTGGGCGGATCATGAGGTCAGGAGTTCAAGACCAGCCTGACCAACATGGAGAAGCCCTGTCTCTACAAAAAATACAAAAATTAGCTGGACGTGGTGGCACATACCTGTAATCCCAGCTACTTGGGAG
GCATCTGATGAGATTCTAACTGAATATGTGAATATCTGGTATCCAAGCTAGATTTCAGTAGAAACCGCAGGGAAAGCTGTCTGCTCATTTAGAATGTTGGAGGGCTCTGTTTGAAGTTTGCATTTCTCTTTGAACAGATGCTCCATTGCAAAATAAAAGGTTTGAAGATTTCAACAATGTTGCCCTAAAAGCTAATTTTATTTCAATAAAGTAACATTCAAGTTCTGTTGGGCTTTGTTGCTGTTGGTTTAGCAATGGGATTTTTTTTCCCCCATCACAGCTTTGGAAACATGATGAGCAAGGAGAAGCGAGAGGCTGTCAGTAAAGAGGACCTGGCCAGAGCGACTTTGATCACCATCACCAACAACATTGGCTCAATAGCAAGAATGTGTGCCCTTAATGAAGTAAGGGGACATGGATTTCTTTAATTGCTCTAAGGAAAATACTGAACTTAAGTGGGCCCCATCACGTCTGTTTTCTCAGAACAGTGCCTAAATGTAGTCATTTGGGGTGGGGTTTGTTTTAGCACGAAGTTAAAACTCTTCAAATACAGATTAATCTTCTTTTTTTTTTTTTTAAACTGAAGATAAACATTGCTACTTGTCTAGAGGTAAAATGACATCTTTTGAGGAGAAAGTAGAGGAAGAGTGGAAGGTAGCCAGTGTTCCAGATATTGGGGACTGTTGGGGGTGATGATGGATAACGATGCTGAATGTAGACTCCACACTCACTGCTGAGCTCTAGAGGCCCTAGGGAGGAATCCAGAGGAAGTCACGGAAGCTGGGAGAAGACTGAGCAGGCCGAGGGGTGCCCTCCTTGGCTCCCCCACCTCAGCAGAGCTGCGTCTTTGTGCTTTCAGCTTCTTTACAGTGCTGCCTTGTAGCATTCAGGTCAAGCAGCATTGTACAGGGCTATGAAAGAACCAAGAATGGGCTGCCCTTGGGAAAAGAGGATCTAGGATCCAGTTGGTGCAGCTTATGGCTTGTCCCTGTGTGTATAGTTGTTAAATTATTCTTTTATTTTTATTTTTAAGAAGTTATTCTTTAGATAATAATAGGCATGTAGCTTAAAAGGAAACCTCAAAAGACACAAAGGATTTGTCTCATTTTAAATTAAAAAAATACTGTATCAGCATCAAGTAATTAAACATTTGTTGGAATATCATAACTTCTTTTTTCTTTATTGTATGTTCCCTTTCCTGTGCTTACGTATTTTCAGAAATTTTAGTTGGTGTGCATACCACAATTTGTATTTTATACTTAAATATACATTTCATGGTTGTATATTTATTTGATCAAGTTCTTTTATATCAAATAACAGAGCTTGGCATTTGGTTGCTTGCTCATAACTCGGCAGTAAGCATTTTTAAGCATGAAGTTATTCTTTGGTTGAATTTTATTCTTGATATGGGGCTTAGGAGTGAGATTTCTGGTCTACAGAAATGATCATGCTCATGAATTTTGACATTTATCGTCATGATGCTTTGCACAAGGGCTGCACCAATTTAGATCATCTTTAGCGGTGAATGAGTGGATTAATTTTACTACAACTACTGATGGTGGTGGTGGAATTTCAGTTGCTTTTTTTTGCGAGGTTAATAGGTCTAAAATTTTACTTTTGTTTGATGACTAGTGGTTTGAATTTTTCGCTGCCTGTTATATTGCTTGTATACTTTGCCTGTTTGTGTCACTGTCCTTTTGGATTGGAGTCATACTGTTTTTTTTTGTTTATTTTAACTTATCTGTATAAAACATTGTATTCAAAACTAGTTATTGTTGGTCAGATTTAATACAAATGTTTTTCCTAATCTGTTTTCTTCTCCTGTGACATTATCTAGCATGCTTTGCAGTGGGTCCAGAGTTGTCTGGGGATCAAGTTTAAGTAGCCCTGGACCAACTGGACTAAATTTGATCAGCAGTCAAATTGTTGCTAAGAGCTATGCACATGGTGCTGTATTTGGGGTAGCTTTTATGAGAAAATAGAAATTAAGATGAAAACTAATTGCCTTTTTTTGGTGTGCTCAGAACATTAACCAGGTGGTATTTGTTAGAAATTTCTTGAGAATTAATACGATCGCCATGCGGCTTTTGGCATATGCTTTGGATTATTGGTCCAAGGGGCAGTTGAAAGCACTTTTTTCGGAACACGAGGTAAGCTGACTTGTTCGTTGTGGTATATTATGTACACAGAGGGCTTGTGGGTCACACTGTCATGGAACTTGAGGTAGAGGGTGGAGGTGAAATGGGCTGCAGTGTTTCTTTTGTTTTTTGTTTTTTTGAGACGGAGTCTCGCTCTGTCACCTAGGTTGGAGTGCGTGGCACAGTCTTGGGGCTCACTGCAGCCTCCGCCTCCTGGGTTCAAGCAGTCCTCCCACCTCAGTCTCTTAAGTAGCTGGGATTACAAGTGTGCGCCCCCACACCCTGCTAATTTTTGTACTTTCAGTAGAAATGGGGTTTCACCATGTTGGCCAAGCTGGTCTGGTCTCAAACTCCTGACCTTAAGTGATCTGCCAGCCTCAGCCTCCCAAAGTTCCAGGATTACAGGTGTGAACCACTGTGCCTGAACTTTTTTGGTAGTTTAATTTCGTAACATTTGAAAGCTGTTTCTTCCCTGATACTAATGCAAGGTAAATTTTGGGTTAATTTAATTGTAAGCTTAAGGAATTTTAGAGAAAAACCCTTGAACATTCCCCTATATTTCTGATGCCATATTTTTGTCTGAACTATCCTCTATATTTTTTCTATTGCACTGACTGTGTCATTACTCTGGGTTCTGGTTTTTTCATTTTTTTCAGTGCCAGTTTTTATATATTGTTGTAATTCTTGTGCCAGTTATTTAAGATGCATGTTGTAAAAATGAATAGATGAGTAAACCTCTCAGACTAGAACCATACTATCATAAGAACTTAAGTACAATTGTAGACAGGCTGGAAATGATGAAATGGAAAAGAATCAAATTGCTCAACCTCATAGCCTGTCTTGGAAAGCACTCTTATTTTTCCTATTTGGGGAAAAAGAAGCAGAGGTATGGAAAGGCGTGTAGGGGTTCTTTCTTCCCTTCTTGGTTGTGGGGCAGTTGAACTATTCTTTCAACTGTTCTTGGATTTTAGATACTGTTATTATGAACATTTTTCAGAATTGTATTGCATATTTAGTTTAACAGTCTATATGAATTAAAGGAAATCAAAGTCCAGATAATAGCACAGATTTGAAGTGCTAGAGATTACTTTTTCCTTTAAAGTTACTTTAAGTTTTTCTTTTTAAATTGCTTTAGTTCATAGTTGAAGTCCAAAGTACACAAATCCCCATATCAAAAAGCTTAAAATTGAAGTCATCTAACTTAGTTTTAAAATTCTAACATTACTGTATTTGTAAACCAGCACCGAATTGCCATTAAGTTTCTTACAGTTCATGTTTCTGTATACATCTTTTTTTGTGATCTGACTTATTTTATTTTGCTTTATATTAGAATTTTTTAAACTCGAATGTTAGATCTTTTTCTGCTTTATTTCTGCCTCTTGTTTAACCTTTTCCTAGGTAGAACATGGAGATTAGTTTTTTAAGTTAACCTTAAAAAAAAAATAGGCTGGGTGCGGTGGCTCACGTCTGTAATCCCAGCACTTTGGGAGGCTGAGATGGGCAGATCACCTAAGGTCAGGAGACCAGCCTGGCCAACCATGGTCAATGTGGCAAAACCCTGTCTCTACTAAAAATACAAAAATTAGCTGGGCGCAATGGCGGGCGCCTATAATCCCCAGCTACTCGGGAGGCTGAGACAGGAGAATCTCTTGAATCTGGGAGGCGGAGGTTGCAGTGAGCTGAGATCGCACCACTGTACTACAGCCTGGGCAACAGAACGAGACTCTGTCTCAAAAACAAAAACAAACAACAACAACAAAACAAACAAAAACACCAAACAGGCCAGGTGCAGCGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGTGGGCGGATCATGAGGTCAGGAGTTCAAGACCAGCCTGACCAACATGGAGAAGCCCTGTCTCTACAAAAAATACAAAAATTAGCTGGACGTGGTGGCACATACCTGTAATCCCAGCTACTTGGGAG
Task1_train_27675
A variant has been detected on Chromosome 20 in MIR103A2, MIR103B2, PANK2 (microRNA 103a-2| microRNA 103b-2| pantothenate kinase 2). What is its effect — pathogenic or benign? If pathogenic, name the disease.
Pathogenic; Inborn genetic diseases
AATATGTGAATATCTGGTATCCAAGCTAGATTTCAGTAGAAACCGCAGGGAAAGCTGTCTGCTCATTTAGAATGTTGGAGGGCTCTGTTTGAAGTTTGCATTTCTCTTTGAACAGATGCTCCATTGCAAAATAAAAGGTTTGAAGATTTCAACAATGTTGCCCTAAAAGCTAATTTTATTTCAATAAAGTAACATTCAAGTTCTGTTGGGCTTTGTTGCTGTTGGTTTAGCAATGGGATTTTTTTTCCCCCATCACAGCTTTGGAAACATGATGAGCAAGGAGAAGCGAGAGGCTGTCAGTAAAGAGGACCTGGCCAGAGCGACTTTGATCACCATCACCAACAACATTGGCTCAATAGCAAGAATGTGTGCCCTTAATGAAGTAAGGGGACATGGATTTCTTTAATTGCTCTAAGGAAAATACTGAACTTAAGTGGGCCCCATCACGTCTGTTTTCTCAGAACAGTGCCTAAATGTAGTCATTTGGGGTGGGGTTTGTTTTAGCACGAAGTTAAAACTCTTCAAATACAGATTAATCTTCTTTTTTTTTTTTTTAAACTGAAGATAAACATTGCTACTTGTCTAGAGGTAAAATGACATCTTTTGAGGAGAAAGTAGAGGAAGAGTGGAAGGTAGCCAGTGTTCCAGATATTGGGGACTGTTGGGGGTGATGATGGATAACGATGCTGAATGTAGACTCCACACTCACTGCTGAGCTCTAGAGGCCCTAGGGAGGAATCCAGAGGAAGTCACGGAAGCTGGGAGAAGACTGAGCAGGCCGAGGGGTGCCCTCCTTGGCTCCCCCACCTCAGCAGAGCTGCGTCTTTGTGCTTTCAGCTTCTTTACAGTGCTGCCTTGTAGCATTCAGGTCAAGCAGCATTGTACAGGGCTATGAAAGAACCAAGAATGGGCTGCCCTTGGGAAAAGAGGATCTAGGATCCAGTTGGTGCAGCTTATGGCTTGTCCCTGTGTGTATAGTTGTTAAATTATTCTTTTATTTTTATTTTTAAGAAGTTATTCTTTAGATAATAATAGGCATGTAGCTTAAAAGGAAACCTCAAAAGACACAAAGGATTTGTCTCATTTTAAATTAAAAAAATACTGTATCAGCATCAAGTAATTAAACATTTGTTGGAATATCATAACTTCTTTTTTCTTTATTGTATGTTCCCTTTCCTGTGCTTACGTATTTTCAGAAATTTTAGTTGGTGTGCATACCACAATTTGTATTTTATACTTAAATATACATTTCATGGTTGTATATTTATTTGATCAAGTTCTTTTATATCAAATAACAGAGCTTGGCATTTGGTTGCTTGCTCATAACTCGGCAGTAAGCATTTTTAAGCATGAAGTTATTCTTTGGTTGAATTTTATTCTTGATATGGGGCTTAGGAGTGAGATTTCTGGTCTACAGAAATGATCATGCTCATGAATTTTGACATTTATCGTCATGATGCTTTGCACAAGGGCTGCACCAATTTAGATCATCTTTAGCGGTGAATGAGTGGATTAATTTTACTACAACTACTGATGGTGGTGGTGGAATTTCAGTTGCTTTTTTTTGCGAGGTTAATAGGTCTAAAATTTTACTTTTGTTTGATGACTAGTGGTTTGAATTTTTCGCTGCCTGTTATATTGCTTGTATACTTTGCCTGTTTGTGTCACTGTCCTTTTGGATTGGAGTCATACTGTTTTTTTTTGTTTATTTTAACTTATCTGTATAAAACATTGTATTCAAAACTAGTTATTGTTGGTCAGATTTAATACAAATGTTTTTCCTAATCTGTTTTCTTCTCCTGTGACATTATCTAGCATGCTTTGCAGTGGGTCCAGAGTTGTCTGGGGATCAAGTTTAAGTAGCCCTGGACCAACTGGACTAAATTTGATCAGCAGTCAAATTGTTGCTAAGAGCTATGCACATGGTGCTGTATTTGGGGTAGCTTTTATGAGAAAATAGAAATTAAGATGAAAACTAATTGCCTTTTTTTGGTGTGCTCAGAACATTAACCAGGTGGTATTTGTTGGAAATTTCTTGAGAATTAATACGATCGCCATGCGGCTTTTGGCATATGCTTTGGATTATTGGTCCAAGGGGCAGTTGAAAGCACTTTTTTCGGAACACGAGGTAAGCTGACTTGTTCGTTGTGGTATATTATGTACACAGAGGGCTTGTGGGTCACACTGTCATGGAACTTGAGGTAGAGGGTGGAGGTGAAATGGGCTGCAGTGTTTCTTTTGTTTTTTGTTTTTTTGAGACGGAGTCTCGCTCTGTCACCTAGGTTGGAGTGCGTGGCACAGTCTTGGGGCTCACTGCAGCCTCCGCCTCCTGGGTTCAAGCAGTCCTCCCACCTCAGTCTCTTAAGTAGCTGGGATTACAAGTGTGCGCCCCCACACCCTGCTAATTTTTGTACTTTCAGTAGAAATGGGGTTTCACCATGTTGGCCAAGCTGGTCTGGTCTCAAACTCCTGACCTTAAGTGATCTGCCAGCCTCAGCCTCCCAAAGTTCCAGGATTACAGGTGTGAACCACTGTGCCTGAACTTTTTTGGTAGTTTAATTTCGTAACATTTGAAAGCTGTTTCTTCCCTGATACTAATGCAAGGTAAATTTTGGGTTAATTTAATTGTAAGCTTAAGGAATTTTAGAGAAAAACCCTTGAACATTCCCCTATATTTCTGATGCCATATTTTTGTCTGAACTATCCTCTATATTTTTTCTATTGCACTGACTGTGTCATTACTCTGGGTTCTGGTTTTTTCATTTTTTTCAGTGCCAGTTTTTATATATTGTTGTAATTCTTGTGCCAGTTATTTAAGATGCATGTTGTAAAAATGAATAGATGAGTAAACCTCTCAGACTAGAACCATACTATCATAAGAACTTAAGTACAATTGTAGACAGGCTGGAAATGATGAAATGGAAAAGAATCAAATTGCTCAACCTCATAGCCTGTCTTGGAAAGCACTCTTATTTTTCCTATTTGGGGAAAAAGAAGCAGAGGTATGGAAAGGCGTGTAGGGGTTCTTTCTTCCCTTCTTGGTTGTGGGGCAGTTGAACTATTCTTTCAACTGTTCTTGGATTTTAGATACTGTTATTATGAACATTTTTCAGAATTGTATTGCATATTTAGTTTAACAGTCTATATGAATTAAAGGAAATCAAAGTCCAGATAATAGCACAGATTTGAAGTGCTAGAGATTACTTTTTCCTTTAAAGTTACTTTAAGTTTTTCTTTTTAAATTGCTTTAGTTCATAGTTGAAGTCCAAAGTACACAAATCCCCATATCAAAAAGCTTAAAATTGAAGTCATCTAACTTAGTTTTAAAATTCTAACATTACTGTATTTGTAAACCAGCACCGAATTGCCATTAAGTTTCTTACAGTTCATGTTTCTGTATACATCTTTTTTTGTGATCTGACTTATTTTATTTTGCTTTATATTAGAATTTTTTAAACTCGAATGTTAGATCTTTTTCTGCTTTATTTCTGCCTCTTGTTTAACCTTTTCCTAGGTAGAACATGGAGATTAGTTTTTTAAGTTAACCTTAAAAAAAAAATAGGCTGGGTGCGGTGGCTCACGTCTGTAATCCCAGCACTTTGGGAGGCTGAGATGGGCAGATCACCTAAGGTCAGGAGACCAGCCTGGCCAACCATGGTCAATGTGGCAAAACCCTGTCTCTACTAAAAATACAAAAATTAGCTGGGCGCAATGGCGGGCGCCTATAATCCCCAGCTACTCGGGAGGCTGAGACAGGAGAATCTCTTGAATCTGGGAGGCGGAGGTTGCAGTGAGCTGAGATCGCACCACTGTACTACAGCCTGGGCAACAGAACGAGACTCTGTCTCAAAAACAAAAACAAACAACAACAACAAAACAAACAAAAACACCAAACAGGCCAGGTGCAGCGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGTGGGCGGATCATGAGGTCAGGAGTTCAAGACCAGCCTGACCAACATGGAGAAGCCCTGTCTCTACAAAAAATACAAAAATTAGCTGGACGTGGTGGCACATACCTGTAATCCCAGCTACTTGGGAGGCTGAGGTGGGAAAATCTCTTG
AATATGTGAATATCTGGTATCCAAGCTAGATTTCAGTAGAAACCGCAGGGAAAGCTGTCTGCTCATTTAGAATGTTGGAGGGCTCTGTTTGAAGTTTGCATTTCTCTTTGAACAGATGCTCCATTGCAAAATAAAAGGTTTGAAGATTTCAACAATGTTGCCCTAAAAGCTAATTTTATTTCAATAAAGTAACATTCAAGTTCTGTTGGGCTTTGTTGCTGTTGGTTTAGCAATGGGATTTTTTTTCCCCCATCACAGCTTTGGAAACATGATGAGCAAGGAGAAGCGAGAGGCTGTCAGTAAAGAGGACCTGGCCAGAGCGACTTTGATCACCATCACCAACAACATTGGCTCAATAGCAAGAATGTGTGCCCTTAATGAAGTAAGGGGACATGGATTTCTTTAATTGCTCTAAGGAAAATACTGAACTTAAGTGGGCCCCATCACGTCTGTTTTCTCAGAACAGTGCCTAAATGTAGTCATTTGGGGTGGGGTTTGTTTTAGCACGAAGTTAAAACTCTTCAAATACAGATTAATCTTCTTTTTTTTTTTTTTAAACTGAAGATAAACATTGCTACTTGTCTAGAGGTAAAATGACATCTTTTGAGGAGAAAGTAGAGGAAGAGTGGAAGGTAGCCAGTGTTCCAGATATTGGGGACTGTTGGGGGTGATGATGGATAACGATGCTGAATGTAGACTCCACACTCACTGCTGAGCTCTAGAGGCCCTAGGGAGGAATCCAGAGGAAGTCACGGAAGCTGGGAGAAGACTGAGCAGGCCGAGGGGTGCCCTCCTTGGCTCCCCCACCTCAGCAGAGCTGCGTCTTTGTGCTTTCAGCTTCTTTACAGTGCTGCCTTGTAGCATTCAGGTCAAGCAGCATTGTACAGGGCTATGAAAGAACCAAGAATGGGCTGCCCTTGGGAAAAGAGGATCTAGGATCCAGTTGGTGCAGCTTATGGCTTGTCCCTGTGTGTATAGTTGTTAAATTATTCTTTTATTTTTATTTTTAAGAAGTTATTCTTTAGATAATAATAGGCATGTAGCTTAAAAGGAAACCTCAAAAGACACAAAGGATTTGTCTCATTTTAAATTAAAAAAATACTGTATCAGCATCAAGTAATTAAACATTTGTTGGAATATCATAACTTCTTTTTTCTTTATTGTATGTTCCCTTTCCTGTGCTTACGTATTTTCAGAAATTTTAGTTGGTGTGCATACCACAATTTGTATTTTATACTTAAATATACATTTCATGGTTGTATATTTATTTGATCAAGTTCTTTTATATCAAATAACAGAGCTTGGCATTTGGTTGCTTGCTCATAACTCGGCAGTAAGCATTTTTAAGCATGAAGTTATTCTTTGGTTGAATTTTATTCTTGATATGGGGCTTAGGAGTGAGATTTCTGGTCTACAGAAATGATCATGCTCATGAATTTTGACATTTATCGTCATGATGCTTTGCACAAGGGCTGCACCAATTTAGATCATCTTTAGCGGTGAATGAGTGGATTAATTTTACTACAACTACTGATGGTGGTGGTGGAATTTCAGTTGCTTTTTTTTGCGAGGTTAATAGGTCTAAAATTTTACTTTTGTTTGATGACTAGTGGTTTGAATTTTTCGCTGCCTGTTATATTGCTTGTATACTTTGCCTGTTTGTGTCACTGTCCTTTTGGATTGGAGTCATACTGTTTTTTTTTGTTTATTTTAACTTATCTGTATAAAACATTGTATTCAAAACTAGTTATTGTTGGTCAGATTTAATACAAATGTTTTTCCTAATCTGTTTTCTTCTCCTGTGACATTATCTAGCATGCTTTGCAGTGGGTCCAGAGTTGTCTGGGGATCAAGTTTAAGTAGCCCTGGACCAACTGGACTAAATTTGATCAGCAGTCAAATTGTTGCTAAGAGCTATGCACATGGTGCTGTATTTGGGGTAGCTTTTATGAGAAAATAGAAATTAAGATGAAAACTAATTGCCTTTTTTTGGTGTGCTCAGAACATTAACCAGGTGGTATTTGTTGGAAATTTCTTGAGAATTAATATGATCGCCATGCGGCTTTTGGCATATGCTTTGGATTATTGGTCCAAGGGGCAGTTGAAAGCACTTTTTTCGGAACACGAGGTAAGCTGACTTGTTCGTTGTGGTATATTATGTACACAGAGGGCTTGTGGGTCACACTGTCATGGAACTTGAGGTAGAGGGTGGAGGTGAAATGGGCTGCAGTGTTTCTTTTGTTTTTTGTTTTTTTGAGACGGAGTCTCGCTCTGTCACCTAGGTTGGAGTGCGTGGCACAGTCTTGGGGCTCACTGCAGCCTCCGCCTCCTGGGTTCAAGCAGTCCTCCCACCTCAGTCTCTTAAGTAGCTGGGATTACAAGTGTGCGCCCCCACACCCTGCTAATTTTTGTACTTTCAGTAGAAATGGGGTTTCACCATGTTGGCCAAGCTGGTCTGGTCTCAAACTCCTGACCTTAAGTGATCTGCCAGCCTCAGCCTCCCAAAGTTCCAGGATTACAGGTGTGAACCACTGTGCCTGAACTTTTTTGGTAGTTTAATTTCGTAACATTTGAAAGCTGTTTCTTCCCTGATACTAATGCAAGGTAAATTTTGGGTTAATTTAATTGTAAGCTTAAGGAATTTTAGAGAAAAACCCTTGAACATTCCCCTATATTTCTGATGCCATATTTTTGTCTGAACTATCCTCTATATTTTTTCTATTGCACTGACTGTGTCATTACTCTGGGTTCTGGTTTTTTCATTTTTTTCAGTGCCAGTTTTTATATATTGTTGTAATTCTTGTGCCAGTTATTTAAGATGCATGTTGTAAAAATGAATAGATGAGTAAACCTCTCAGACTAGAACCATACTATCATAAGAACTTAAGTACAATTGTAGACAGGCTGGAAATGATGAAATGGAAAAGAATCAAATTGCTCAACCTCATAGCCTGTCTTGGAAAGCACTCTTATTTTTCCTATTTGGGGAAAAAGAAGCAGAGGTATGGAAAGGCGTGTAGGGGTTCTTTCTTCCCTTCTTGGTTGTGGGGCAGTTGAACTATTCTTTCAACTGTTCTTGGATTTTAGATACTGTTATTATGAACATTTTTCAGAATTGTATTGCATATTTAGTTTAACAGTCTATATGAATTAAAGGAAATCAAAGTCCAGATAATAGCACAGATTTGAAGTGCTAGAGATTACTTTTTCCTTTAAAGTTACTTTAAGTTTTTCTTTTTAAATTGCTTTAGTTCATAGTTGAAGTCCAAAGTACACAAATCCCCATATCAAAAAGCTTAAAATTGAAGTCATCTAACTTAGTTTTAAAATTCTAACATTACTGTATTTGTAAACCAGCACCGAATTGCCATTAAGTTTCTTACAGTTCATGTTTCTGTATACATCTTTTTTTGTGATCTGACTTATTTTATTTTGCTTTATATTAGAATTTTTTAAACTCGAATGTTAGATCTTTTTCTGCTTTATTTCTGCCTCTTGTTTAACCTTTTCCTAGGTAGAACATGGAGATTAGTTTTTTAAGTTAACCTTAAAAAAAAAATAGGCTGGGTGCGGTGGCTCACGTCTGTAATCCCAGCACTTTGGGAGGCTGAGATGGGCAGATCACCTAAGGTCAGGAGACCAGCCTGGCCAACCATGGTCAATGTGGCAAAACCCTGTCTCTACTAAAAATACAAAAATTAGCTGGGCGCAATGGCGGGCGCCTATAATCCCCAGCTACTCGGGAGGCTGAGACAGGAGAATCTCTTGAATCTGGGAGGCGGAGGTTGCAGTGAGCTGAGATCGCACCACTGTACTACAGCCTGGGCAACAGAACGAGACTCTGTCTCAAAAACAAAAACAAACAACAACAACAAAACAAACAAAAACACCAAACAGGCCAGGTGCAGCGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGTGGGCGGATCATGAGGTCAGGAGTTCAAGACCAGCCTGACCAACATGGAGAAGCCCTGTCTCTACAAAAAATACAAAAATTAGCTGGACGTGGTGGCACATACCTGTAATCCCAGCTACTTGGGAGGCTGAGGTGGGAAAATCTCTTG
Task1_train_27676
The gene MIR103A2, MIR103B2, PANK2 (microRNA 103a-2| microRNA 103b-2| pantothenate kinase 2) on Chromosome 20 carries this variant. Does this mutation lead to a specific disease, or is it non-pathogenic?
Pathogenic; Hypoprebetalipoproteinemia, acanthocytosis, retinitis pigmentosa, and pallidal degeneration
AATATGTGAATATCTGGTATCCAAGCTAGATTTCAGTAGAAACCGCAGGGAAAGCTGTCTGCTCATTTAGAATGTTGGAGGGCTCTGTTTGAAGTTTGCATTTCTCTTTGAACAGATGCTCCATTGCAAAATAAAAGGTTTGAAGATTTCAACAATGTTGCCCTAAAAGCTAATTTTATTTCAATAAAGTAACATTCAAGTTCTGTTGGGCTTTGTTGCTGTTGGTTTAGCAATGGGATTTTTTTTCCCCCATCACAGCTTTGGAAACATGATGAGCAAGGAGAAGCGAGAGGCTGTCAGTAAAGAGGACCTGGCCAGAGCGACTTTGATCACCATCACCAACAACATTGGCTCAATAGCAAGAATGTGTGCCCTTAATGAAGTAAGGGGACATGGATTTCTTTAATTGCTCTAAGGAAAATACTGAACTTAAGTGGGCCCCATCACGTCTGTTTTCTCAGAACAGTGCCTAAATGTAGTCATTTGGGGTGGGGTTTGTTTTAGCACGAAGTTAAAACTCTTCAAATACAGATTAATCTTCTTTTTTTTTTTTTTAAACTGAAGATAAACATTGCTACTTGTCTAGAGGTAAAATGACATCTTTTGAGGAGAAAGTAGAGGAAGAGTGGAAGGTAGCCAGTGTTCCAGATATTGGGGACTGTTGGGGGTGATGATGGATAACGATGCTGAATGTAGACTCCACACTCACTGCTGAGCTCTAGAGGCCCTAGGGAGGAATCCAGAGGAAGTCACGGAAGCTGGGAGAAGACTGAGCAGGCCGAGGGGTGCCCTCCTTGGCTCCCCCACCTCAGCAGAGCTGCGTCTTTGTGCTTTCAGCTTCTTTACAGTGCTGCCTTGTAGCATTCAGGTCAAGCAGCATTGTACAGGGCTATGAAAGAACCAAGAATGGGCTGCCCTTGGGAAAAGAGGATCTAGGATCCAGTTGGTGCAGCTTATGGCTTGTCCCTGTGTGTATAGTTGTTAAATTATTCTTTTATTTTTATTTTTAAGAAGTTATTCTTTAGATAATAATAGGCATGTAGCTTAAAAGGAAACCTCAAAAGACACAAAGGATTTGTCTCATTTTAAATTAAAAAAATACTGTATCAGCATCAAGTAATTAAACATTTGTTGGAATATCATAACTTCTTTTTTCTTTATTGTATGTTCCCTTTCCTGTGCTTACGTATTTTCAGAAATTTTAGTTGGTGTGCATACCACAATTTGTATTTTATACTTAAATATACATTTCATGGTTGTATATTTATTTGATCAAGTTCTTTTATATCAAATAACAGAGCTTGGCATTTGGTTGCTTGCTCATAACTCGGCAGTAAGCATTTTTAAGCATGAAGTTATTCTTTGGTTGAATTTTATTCTTGATATGGGGCTTAGGAGTGAGATTTCTGGTCTACAGAAATGATCATGCTCATGAATTTTGACATTTATCGTCATGATGCTTTGCACAAGGGCTGCACCAATTTAGATCATCTTTAGCGGTGAATGAGTGGATTAATTTTACTACAACTACTGATGGTGGTGGTGGAATTTCAGTTGCTTTTTTTTGCGAGGTTAATAGGTCTAAAATTTTACTTTTGTTTGATGACTAGTGGTTTGAATTTTTCGCTGCCTGTTATATTGCTTGTATACTTTGCCTGTTTGTGTCACTGTCCTTTTGGATTGGAGTCATACTGTTTTTTTTTGTTTATTTTAACTTATCTGTATAAAACATTGTATTCAAAACTAGTTATTGTTGGTCAGATTTAATACAAATGTTTTTCCTAATCTGTTTTCTTCTCCTGTGACATTATCTAGCATGCTTTGCAGTGGGTCCAGAGTTGTCTGGGGATCAAGTTTAAGTAGCCCTGGACCAACTGGACTAAATTTGATCAGCAGTCAAATTGTTGCTAAGAGCTATGCACATGGTGCTGTATTTGGGGTAGCTTTTATGAGAAAATAGAAATTAAGATGAAAACTAATTGCCTTTTTTTGGTGTGCTCAGAACATTAACCAGGTGGTATTTGTTGGAAATTTCTTGAGAATTAATACGATCGCCATGCGGCTTTTGGCATATGCTTTGGATTATTGGTCCAAGGGGCAGTTGAAAGCACTTTTTTCGGAACACGAGGTAAGCTGACTTGTTCGTTGTGGTATATTATGTACACAGAGGGCTTGTGGGTCACACTGTCATGGAACTTGAGGTAGAGGGTGGAGGTGAAATGGGCTGCAGTGTTTCTTTTGTTTTTTGTTTTTTTGAGACGGAGTCTCGCTCTGTCACCTAGGTTGGAGTGCGTGGCACAGTCTTGGGGCTCACTGCAGCCTCCGCCTCCTGGGTTCAAGCAGTCCTCCCACCTCAGTCTCTTAAGTAGCTGGGATTACAAGTGTGCGCCCCCACACCCTGCTAATTTTTGTACTTTCAGTAGAAATGGGGTTTCACCATGTTGGCCAAGCTGGTCTGGTCTCAAACTCCTGACCTTAAGTGATCTGCCAGCCTCAGCCTCCCAAAGTTCCAGGATTACAGGTGTGAACCACTGTGCCTGAACTTTTTTGGTAGTTTAATTTCGTAACATTTGAAAGCTGTTTCTTCCCTGATACTAATGCAAGGTAAATTTTGGGTTAATTTAATTGTAAGCTTAAGGAATTTTAGAGAAAAACCCTTGAACATTCCCCTATATTTCTGATGCCATATTTTTGTCTGAACTATCCTCTATATTTTTTCTATTGCACTGACTGTGTCATTACTCTGGGTTCTGGTTTTTTCATTTTTTTCAGTGCCAGTTTTTATATATTGTTGTAATTCTTGTGCCAGTTATTTAAGATGCATGTTGTAAAAATGAATAGATGAGTAAACCTCTCAGACTAGAACCATACTATCATAAGAACTTAAGTACAATTGTAGACAGGCTGGAAATGATGAAATGGAAAAGAATCAAATTGCTCAACCTCATAGCCTGTCTTGGAAAGCACTCTTATTTTTCCTATTTGGGGAAAAAGAAGCAGAGGTATGGAAAGGCGTGTAGGGGTTCTTTCTTCCCTTCTTGGTTGTGGGGCAGTTGAACTATTCTTTCAACTGTTCTTGGATTTTAGATACTGTTATTATGAACATTTTTCAGAATTGTATTGCATATTTAGTTTAACAGTCTATATGAATTAAAGGAAATCAAAGTCCAGATAATAGCACAGATTTGAAGTGCTAGAGATTACTTTTTCCTTTAAAGTTACTTTAAGTTTTTCTTTTTAAATTGCTTTAGTTCATAGTTGAAGTCCAAAGTACACAAATCCCCATATCAAAAAGCTTAAAATTGAAGTCATCTAACTTAGTTTTAAAATTCTAACATTACTGTATTTGTAAACCAGCACCGAATTGCCATTAAGTTTCTTACAGTTCATGTTTCTGTATACATCTTTTTTTGTGATCTGACTTATTTTATTTTGCTTTATATTAGAATTTTTTAAACTCGAATGTTAGATCTTTTTCTGCTTTATTTCTGCCTCTTGTTTAACCTTTTCCTAGGTAGAACATGGAGATTAGTTTTTTAAGTTAACCTTAAAAAAAAAATAGGCTGGGTGCGGTGGCTCACGTCTGTAATCCCAGCACTTTGGGAGGCTGAGATGGGCAGATCACCTAAGGTCAGGAGACCAGCCTGGCCAACCATGGTCAATGTGGCAAAACCCTGTCTCTACTAAAAATACAAAAATTAGCTGGGCGCAATGGCGGGCGCCTATAATCCCCAGCTACTCGGGAGGCTGAGACAGGAGAATCTCTTGAATCTGGGAGGCGGAGGTTGCAGTGAGCTGAGATCGCACCACTGTACTACAGCCTGGGCAACAGAACGAGACTCTGTCTCAAAAACAAAAACAAACAACAACAACAAAACAAACAAAAACACCAAACAGGCCAGGTGCAGCGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGTGGGCGGATCATGAGGTCAGGAGTTCAAGACCAGCCTGACCAACATGGAGAAGCCCTGTCTCTACAAAAAATACAAAAATTAGCTGGACGTGGTGGCACATACCTGTAATCCCAGCTACTTGGGAGGCTGAGGTGGGAAAATCTCTTG
AATATGTGAATATCTGGTATCCAAGCTAGATTTCAGTAGAAACCGCAGGGAAAGCTGTCTGCTCATTTAGAATGTTGGAGGGCTCTGTTTGAAGTTTGCATTTCTCTTTGAACAGATGCTCCATTGCAAAATAAAAGGTTTGAAGATTTCAACAATGTTGCCCTAAAAGCTAATTTTATTTCAATAAAGTAACATTCAAGTTCTGTTGGGCTTTGTTGCTGTTGGTTTAGCAATGGGATTTTTTTTCCCCCATCACAGCTTTGGAAACATGATGAGCAAGGAGAAGCGAGAGGCTGTCAGTAAAGAGGACCTGGCCAGAGCGACTTTGATCACCATCACCAACAACATTGGCTCAATAGCAAGAATGTGTGCCCTTAATGAAGTAAGGGGACATGGATTTCTTTAATTGCTCTAAGGAAAATACTGAACTTAAGTGGGCCCCATCACGTCTGTTTTCTCAGAACAGTGCCTAAATGTAGTCATTTGGGGTGGGGTTTGTTTTAGCACGAAGTTAAAACTCTTCAAATACAGATTAATCTTCTTTTTTTTTTTTTTAAACTGAAGATAAACATTGCTACTTGTCTAGAGGTAAAATGACATCTTTTGAGGAGAAAGTAGAGGAAGAGTGGAAGGTAGCCAGTGTTCCAGATATTGGGGACTGTTGGGGGTGATGATGGATAACGATGCTGAATGTAGACTCCACACTCACTGCTGAGCTCTAGAGGCCCTAGGGAGGAATCCAGAGGAAGTCACGGAAGCTGGGAGAAGACTGAGCAGGCCGAGGGGTGCCCTCCTTGGCTCCCCCACCTCAGCAGAGCTGCGTCTTTGTGCTTTCAGCTTCTTTACAGTGCTGCCTTGTAGCATTCAGGTCAAGCAGCATTGTACAGGGCTATGAAAGAACCAAGAATGGGCTGCCCTTGGGAAAAGAGGATCTAGGATCCAGTTGGTGCAGCTTATGGCTTGTCCCTGTGTGTATAGTTGTTAAATTATTCTTTTATTTTTATTTTTAAGAAGTTATTCTTTAGATAATAATAGGCATGTAGCTTAAAAGGAAACCTCAAAAGACACAAAGGATTTGTCTCATTTTAAATTAAAAAAATACTGTATCAGCATCAAGTAATTAAACATTTGTTGGAATATCATAACTTCTTTTTTCTTTATTGTATGTTCCCTTTCCTGTGCTTACGTATTTTCAGAAATTTTAGTTGGTGTGCATACCACAATTTGTATTTTATACTTAAATATACATTTCATGGTTGTATATTTATTTGATCAAGTTCTTTTATATCAAATAACAGAGCTTGGCATTTGGTTGCTTGCTCATAACTCGGCAGTAAGCATTTTTAAGCATGAAGTTATTCTTTGGTTGAATTTTATTCTTGATATGGGGCTTAGGAGTGAGATTTCTGGTCTACAGAAATGATCATGCTCATGAATTTTGACATTTATCGTCATGATGCTTTGCACAAGGGCTGCACCAATTTAGATCATCTTTAGCGGTGAATGAGTGGATTAATTTTACTACAACTACTGATGGTGGTGGTGGAATTTCAGTTGCTTTTTTTTGCGAGGTTAATAGGTCTAAAATTTTACTTTTGTTTGATGACTAGTGGTTTGAATTTTTCGCTGCCTGTTATATTGCTTGTATACTTTGCCTGTTTGTGTCACTGTCCTTTTGGATTGGAGTCATACTGTTTTTTTTTGTTTATTTTAACTTATCTGTATAAAACATTGTATTCAAAACTAGTTATTGTTGGTCAGATTTAATACAAATGTTTTTCCTAATCTGTTTTCTTCTCCTGTGACATTATCTAGCATGCTTTGCAGTGGGTCCAGAGTTGTCTGGGGATCAAGTTTAAGTAGCCCTGGACCAACTGGACTAAATTTGATCAGCAGTCAAATTGTTGCTAAGAGCTATGCACATGGTGCTGTATTTGGGGTAGCTTTTATGAGAAAATAGAAATTAAGATGAAAACTAATTGCCTTTTTTTGGTGTGCTCAGAACATTAACCAGGTGGTATTTGTTGGAAATTTCTTGAGAATTAATATGATCGCCATGCGGCTTTTGGCATATGCTTTGGATTATTGGTCCAAGGGGCAGTTGAAAGCACTTTTTTCGGAACACGAGGTAAGCTGACTTGTTCGTTGTGGTATATTATGTACACAGAGGGCTTGTGGGTCACACTGTCATGGAACTTGAGGTAGAGGGTGGAGGTGAAATGGGCTGCAGTGTTTCTTTTGTTTTTTGTTTTTTTGAGACGGAGTCTCGCTCTGTCACCTAGGTTGGAGTGCGTGGCACAGTCTTGGGGCTCACTGCAGCCTCCGCCTCCTGGGTTCAAGCAGTCCTCCCACCTCAGTCTCTTAAGTAGCTGGGATTACAAGTGTGCGCCCCCACACCCTGCTAATTTTTGTACTTTCAGTAGAAATGGGGTTTCACCATGTTGGCCAAGCTGGTCTGGTCTCAAACTCCTGACCTTAAGTGATCTGCCAGCCTCAGCCTCCCAAAGTTCCAGGATTACAGGTGTGAACCACTGTGCCTGAACTTTTTTGGTAGTTTAATTTCGTAACATTTGAAAGCTGTTTCTTCCCTGATACTAATGCAAGGTAAATTTTGGGTTAATTTAATTGTAAGCTTAAGGAATTTTAGAGAAAAACCCTTGAACATTCCCCTATATTTCTGATGCCATATTTTTGTCTGAACTATCCTCTATATTTTTTCTATTGCACTGACTGTGTCATTACTCTGGGTTCTGGTTTTTTCATTTTTTTCAGTGCCAGTTTTTATATATTGTTGTAATTCTTGTGCCAGTTATTTAAGATGCATGTTGTAAAAATGAATAGATGAGTAAACCTCTCAGACTAGAACCATACTATCATAAGAACTTAAGTACAATTGTAGACAGGCTGGAAATGATGAAATGGAAAAGAATCAAATTGCTCAACCTCATAGCCTGTCTTGGAAAGCACTCTTATTTTTCCTATTTGGGGAAAAAGAAGCAGAGGTATGGAAAGGCGTGTAGGGGTTCTTTCTTCCCTTCTTGGTTGTGGGGCAGTTGAACTATTCTTTCAACTGTTCTTGGATTTTAGATACTGTTATTATGAACATTTTTCAGAATTGTATTGCATATTTAGTTTAACAGTCTATATGAATTAAAGGAAATCAAAGTCCAGATAATAGCACAGATTTGAAGTGCTAGAGATTACTTTTTCCTTTAAAGTTACTTTAAGTTTTTCTTTTTAAATTGCTTTAGTTCATAGTTGAAGTCCAAAGTACACAAATCCCCATATCAAAAAGCTTAAAATTGAAGTCATCTAACTTAGTTTTAAAATTCTAACATTACTGTATTTGTAAACCAGCACCGAATTGCCATTAAGTTTCTTACAGTTCATGTTTCTGTATACATCTTTTTTTGTGATCTGACTTATTTTATTTTGCTTTATATTAGAATTTTTTAAACTCGAATGTTAGATCTTTTTCTGCTTTATTTCTGCCTCTTGTTTAACCTTTTCCTAGGTAGAACATGGAGATTAGTTTTTTAAGTTAACCTTAAAAAAAAAATAGGCTGGGTGCGGTGGCTCACGTCTGTAATCCCAGCACTTTGGGAGGCTGAGATGGGCAGATCACCTAAGGTCAGGAGACCAGCCTGGCCAACCATGGTCAATGTGGCAAAACCCTGTCTCTACTAAAAATACAAAAATTAGCTGGGCGCAATGGCGGGCGCCTATAATCCCCAGCTACTCGGGAGGCTGAGACAGGAGAATCTCTTGAATCTGGGAGGCGGAGGTTGCAGTGAGCTGAGATCGCACCACTGTACTACAGCCTGGGCAACAGAACGAGACTCTGTCTCAAAAACAAAAACAAACAACAACAACAAAACAAACAAAAACACCAAACAGGCCAGGTGCAGCGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGTGGGCGGATCATGAGGTCAGGAGTTCAAGACCAGCCTGACCAACATGGAGAAGCCCTGTCTCTACAAAAAATACAAAAATTAGCTGGACGTGGTGGCACATACCTGTAATCCCAGCTACTTGGGAGGCTGAGGTGGGAAAATCTCTTG
Task1_train_27677
Consider a variant on Chromosome 20 in gene MIR103A2, MIR103B2, PANK2 (microRNA 103a-2| microRNA 103b-2| pantothenate kinase 2). Determine its clinical classification and disease relevance.
Pathogenic; Pigmentary pallidal degeneration
AATATGTGAATATCTGGTATCCAAGCTAGATTTCAGTAGAAACCGCAGGGAAAGCTGTCTGCTCATTTAGAATGTTGGAGGGCTCTGTTTGAAGTTTGCATTTCTCTTTGAACAGATGCTCCATTGCAAAATAAAAGGTTTGAAGATTTCAACAATGTTGCCCTAAAAGCTAATTTTATTTCAATAAAGTAACATTCAAGTTCTGTTGGGCTTTGTTGCTGTTGGTTTAGCAATGGGATTTTTTTTCCCCCATCACAGCTTTGGAAACATGATGAGCAAGGAGAAGCGAGAGGCTGTCAGTAAAGAGGACCTGGCCAGAGCGACTTTGATCACCATCACCAACAACATTGGCTCAATAGCAAGAATGTGTGCCCTTAATGAAGTAAGGGGACATGGATTTCTTTAATTGCTCTAAGGAAAATACTGAACTTAAGTGGGCCCCATCACGTCTGTTTTCTCAGAACAGTGCCTAAATGTAGTCATTTGGGGTGGGGTTTGTTTTAGCACGAAGTTAAAACTCTTCAAATACAGATTAATCTTCTTTTTTTTTTTTTTAAACTGAAGATAAACATTGCTACTTGTCTAGAGGTAAAATGACATCTTTTGAGGAGAAAGTAGAGGAAGAGTGGAAGGTAGCCAGTGTTCCAGATATTGGGGACTGTTGGGGGTGATGATGGATAACGATGCTGAATGTAGACTCCACACTCACTGCTGAGCTCTAGAGGCCCTAGGGAGGAATCCAGAGGAAGTCACGGAAGCTGGGAGAAGACTGAGCAGGCCGAGGGGTGCCCTCCTTGGCTCCCCCACCTCAGCAGAGCTGCGTCTTTGTGCTTTCAGCTTCTTTACAGTGCTGCCTTGTAGCATTCAGGTCAAGCAGCATTGTACAGGGCTATGAAAGAACCAAGAATGGGCTGCCCTTGGGAAAAGAGGATCTAGGATCCAGTTGGTGCAGCTTATGGCTTGTCCCTGTGTGTATAGTTGTTAAATTATTCTTTTATTTTTATTTTTAAGAAGTTATTCTTTAGATAATAATAGGCATGTAGCTTAAAAGGAAACCTCAAAAGACACAAAGGATTTGTCTCATTTTAAATTAAAAAAATACTGTATCAGCATCAAGTAATTAAACATTTGTTGGAATATCATAACTTCTTTTTTCTTTATTGTATGTTCCCTTTCCTGTGCTTACGTATTTTCAGAAATTTTAGTTGGTGTGCATACCACAATTTGTATTTTATACTTAAATATACATTTCATGGTTGTATATTTATTTGATCAAGTTCTTTTATATCAAATAACAGAGCTTGGCATTTGGTTGCTTGCTCATAACTCGGCAGTAAGCATTTTTAAGCATGAAGTTATTCTTTGGTTGAATTTTATTCTTGATATGGGGCTTAGGAGTGAGATTTCTGGTCTACAGAAATGATCATGCTCATGAATTTTGACATTTATCGTCATGATGCTTTGCACAAGGGCTGCACCAATTTAGATCATCTTTAGCGGTGAATGAGTGGATTAATTTTACTACAACTACTGATGGTGGTGGTGGAATTTCAGTTGCTTTTTTTTGCGAGGTTAATAGGTCTAAAATTTTACTTTTGTTTGATGACTAGTGGTTTGAATTTTTCGCTGCCTGTTATATTGCTTGTATACTTTGCCTGTTTGTGTCACTGTCCTTTTGGATTGGAGTCATACTGTTTTTTTTTGTTTATTTTAACTTATCTGTATAAAACATTGTATTCAAAACTAGTTATTGTTGGTCAGATTTAATACAAATGTTTTTCCTAATCTGTTTTCTTCTCCTGTGACATTATCTAGCATGCTTTGCAGTGGGTCCAGAGTTGTCTGGGGATCAAGTTTAAGTAGCCCTGGACCAACTGGACTAAATTTGATCAGCAGTCAAATTGTTGCTAAGAGCTATGCACATGGTGCTGTATTTGGGGTAGCTTTTATGAGAAAATAGAAATTAAGATGAAAACTAATTGCCTTTTTTTGGTGTGCTCAGAACATTAACCAGGTGGTATTTGTTGGAAATTTCTTGAGAATTAATACGATCGCCATGCGGCTTTTGGCATATGCTTTGGATTATTGGTCCAAGGGGCAGTTGAAAGCACTTTTTTCGGAACACGAGGTAAGCTGACTTGTTCGTTGTGGTATATTATGTACACAGAGGGCTTGTGGGTCACACTGTCATGGAACTTGAGGTAGAGGGTGGAGGTGAAATGGGCTGCAGTGTTTCTTTTGTTTTTTGTTTTTTTGAGACGGAGTCTCGCTCTGTCACCTAGGTTGGAGTGCGTGGCACAGTCTTGGGGCTCACTGCAGCCTCCGCCTCCTGGGTTCAAGCAGTCCTCCCACCTCAGTCTCTTAAGTAGCTGGGATTACAAGTGTGCGCCCCCACACCCTGCTAATTTTTGTACTTTCAGTAGAAATGGGGTTTCACCATGTTGGCCAAGCTGGTCTGGTCTCAAACTCCTGACCTTAAGTGATCTGCCAGCCTCAGCCTCCCAAAGTTCCAGGATTACAGGTGTGAACCACTGTGCCTGAACTTTTTTGGTAGTTTAATTTCGTAACATTTGAAAGCTGTTTCTTCCCTGATACTAATGCAAGGTAAATTTTGGGTTAATTTAATTGTAAGCTTAAGGAATTTTAGAGAAAAACCCTTGAACATTCCCCTATATTTCTGATGCCATATTTTTGTCTGAACTATCCTCTATATTTTTTCTATTGCACTGACTGTGTCATTACTCTGGGTTCTGGTTTTTTCATTTTTTTCAGTGCCAGTTTTTATATATTGTTGTAATTCTTGTGCCAGTTATTTAAGATGCATGTTGTAAAAATGAATAGATGAGTAAACCTCTCAGACTAGAACCATACTATCATAAGAACTTAAGTACAATTGTAGACAGGCTGGAAATGATGAAATGGAAAAGAATCAAATTGCTCAACCTCATAGCCTGTCTTGGAAAGCACTCTTATTTTTCCTATTTGGGGAAAAAGAAGCAGAGGTATGGAAAGGCGTGTAGGGGTTCTTTCTTCCCTTCTTGGTTGTGGGGCAGTTGAACTATTCTTTCAACTGTTCTTGGATTTTAGATACTGTTATTATGAACATTTTTCAGAATTGTATTGCATATTTAGTTTAACAGTCTATATGAATTAAAGGAAATCAAAGTCCAGATAATAGCACAGATTTGAAGTGCTAGAGATTACTTTTTCCTTTAAAGTTACTTTAAGTTTTTCTTTTTAAATTGCTTTAGTTCATAGTTGAAGTCCAAAGTACACAAATCCCCATATCAAAAAGCTTAAAATTGAAGTCATCTAACTTAGTTTTAAAATTCTAACATTACTGTATTTGTAAACCAGCACCGAATTGCCATTAAGTTTCTTACAGTTCATGTTTCTGTATACATCTTTTTTTGTGATCTGACTTATTTTATTTTGCTTTATATTAGAATTTTTTAAACTCGAATGTTAGATCTTTTTCTGCTTTATTTCTGCCTCTTGTTTAACCTTTTCCTAGGTAGAACATGGAGATTAGTTTTTTAAGTTAACCTTAAAAAAAAAATAGGCTGGGTGCGGTGGCTCACGTCTGTAATCCCAGCACTTTGGGAGGCTGAGATGGGCAGATCACCTAAGGTCAGGAGACCAGCCTGGCCAACCATGGTCAATGTGGCAAAACCCTGTCTCTACTAAAAATACAAAAATTAGCTGGGCGCAATGGCGGGCGCCTATAATCCCCAGCTACTCGGGAGGCTGAGACAGGAGAATCTCTTGAATCTGGGAGGCGGAGGTTGCAGTGAGCTGAGATCGCACCACTGTACTACAGCCTGGGCAACAGAACGAGACTCTGTCTCAAAAACAAAAACAAACAACAACAACAAAACAAACAAAAACACCAAACAGGCCAGGTGCAGCGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGTGGGCGGATCATGAGGTCAGGAGTTCAAGACCAGCCTGACCAACATGGAGAAGCCCTGTCTCTACAAAAAATACAAAAATTAGCTGGACGTGGTGGCACATACCTGTAATCCCAGCTACTTGGGAGGCTGAGGTGGGAAAATCTCTTG
AATATGTGAATATCTGGTATCCAAGCTAGATTTCAGTAGAAACCGCAGGGAAAGCTGTCTGCTCATTTAGAATGTTGGAGGGCTCTGTTTGAAGTTTGCATTTCTCTTTGAACAGATGCTCCATTGCAAAATAAAAGGTTTGAAGATTTCAACAATGTTGCCCTAAAAGCTAATTTTATTTCAATAAAGTAACATTCAAGTTCTGTTGGGCTTTGTTGCTGTTGGTTTAGCAATGGGATTTTTTTTCCCCCATCACAGCTTTGGAAACATGATGAGCAAGGAGAAGCGAGAGGCTGTCAGTAAAGAGGACCTGGCCAGAGCGACTTTGATCACCATCACCAACAACATTGGCTCAATAGCAAGAATGTGTGCCCTTAATGAAGTAAGGGGACATGGATTTCTTTAATTGCTCTAAGGAAAATACTGAACTTAAGTGGGCCCCATCACGTCTGTTTTCTCAGAACAGTGCCTAAATGTAGTCATTTGGGGTGGGGTTTGTTTTAGCACGAAGTTAAAACTCTTCAAATACAGATTAATCTTCTTTTTTTTTTTTTTAAACTGAAGATAAACATTGCTACTTGTCTAGAGGTAAAATGACATCTTTTGAGGAGAAAGTAGAGGAAGAGTGGAAGGTAGCCAGTGTTCCAGATATTGGGGACTGTTGGGGGTGATGATGGATAACGATGCTGAATGTAGACTCCACACTCACTGCTGAGCTCTAGAGGCCCTAGGGAGGAATCCAGAGGAAGTCACGGAAGCTGGGAGAAGACTGAGCAGGCCGAGGGGTGCCCTCCTTGGCTCCCCCACCTCAGCAGAGCTGCGTCTTTGTGCTTTCAGCTTCTTTACAGTGCTGCCTTGTAGCATTCAGGTCAAGCAGCATTGTACAGGGCTATGAAAGAACCAAGAATGGGCTGCCCTTGGGAAAAGAGGATCTAGGATCCAGTTGGTGCAGCTTATGGCTTGTCCCTGTGTGTATAGTTGTTAAATTATTCTTTTATTTTTATTTTTAAGAAGTTATTCTTTAGATAATAATAGGCATGTAGCTTAAAAGGAAACCTCAAAAGACACAAAGGATTTGTCTCATTTTAAATTAAAAAAATACTGTATCAGCATCAAGTAATTAAACATTTGTTGGAATATCATAACTTCTTTTTTCTTTATTGTATGTTCCCTTTCCTGTGCTTACGTATTTTCAGAAATTTTAGTTGGTGTGCATACCACAATTTGTATTTTATACTTAAATATACATTTCATGGTTGTATATTTATTTGATCAAGTTCTTTTATATCAAATAACAGAGCTTGGCATTTGGTTGCTTGCTCATAACTCGGCAGTAAGCATTTTTAAGCATGAAGTTATTCTTTGGTTGAATTTTATTCTTGATATGGGGCTTAGGAGTGAGATTTCTGGTCTACAGAAATGATCATGCTCATGAATTTTGACATTTATCGTCATGATGCTTTGCACAAGGGCTGCACCAATTTAGATCATCTTTAGCGGTGAATGAGTGGATTAATTTTACTACAACTACTGATGGTGGTGGTGGAATTTCAGTTGCTTTTTTTTGCGAGGTTAATAGGTCTAAAATTTTACTTTTGTTTGATGACTAGTGGTTTGAATTTTTCGCTGCCTGTTATATTGCTTGTATACTTTGCCTGTTTGTGTCACTGTCCTTTTGGATTGGAGTCATACTGTTTTTTTTTGTTTATTTTAACTTATCTGTATAAAACATTGTATTCAAAACTAGTTATTGTTGGTCAGATTTAATACAAATGTTTTTCCTAATCTGTTTTCTTCTCCTGTGACATTATCTAGCATGCTTTGCAGTGGGTCCAGAGTTGTCTGGGGATCAAGTTTAAGTAGCCCTGGACCAACTGGACTAAATTTGATCAGCAGTCAAATTGTTGCTAAGAGCTATGCACATGGTGCTGTATTTGGGGTAGCTTTTATGAGAAAATAGAAATTAAGATGAAAACTAATTGCCTTTTTTTGGTGTGCTCAGAACATTAACCAGGTGGTATTTGTTGGAAATTTCTTGAGAATTAATATGATCGCCATGCGGCTTTTGGCATATGCTTTGGATTATTGGTCCAAGGGGCAGTTGAAAGCACTTTTTTCGGAACACGAGGTAAGCTGACTTGTTCGTTGTGGTATATTATGTACACAGAGGGCTTGTGGGTCACACTGTCATGGAACTTGAGGTAGAGGGTGGAGGTGAAATGGGCTGCAGTGTTTCTTTTGTTTTTTGTTTTTTTGAGACGGAGTCTCGCTCTGTCACCTAGGTTGGAGTGCGTGGCACAGTCTTGGGGCTCACTGCAGCCTCCGCCTCCTGGGTTCAAGCAGTCCTCCCACCTCAGTCTCTTAAGTAGCTGGGATTACAAGTGTGCGCCCCCACACCCTGCTAATTTTTGTACTTTCAGTAGAAATGGGGTTTCACCATGTTGGCCAAGCTGGTCTGGTCTCAAACTCCTGACCTTAAGTGATCTGCCAGCCTCAGCCTCCCAAAGTTCCAGGATTACAGGTGTGAACCACTGTGCCTGAACTTTTTTGGTAGTTTAATTTCGTAACATTTGAAAGCTGTTTCTTCCCTGATACTAATGCAAGGTAAATTTTGGGTTAATTTAATTGTAAGCTTAAGGAATTTTAGAGAAAAACCCTTGAACATTCCCCTATATTTCTGATGCCATATTTTTGTCTGAACTATCCTCTATATTTTTTCTATTGCACTGACTGTGTCATTACTCTGGGTTCTGGTTTTTTCATTTTTTTCAGTGCCAGTTTTTATATATTGTTGTAATTCTTGTGCCAGTTATTTAAGATGCATGTTGTAAAAATGAATAGATGAGTAAACCTCTCAGACTAGAACCATACTATCATAAGAACTTAAGTACAATTGTAGACAGGCTGGAAATGATGAAATGGAAAAGAATCAAATTGCTCAACCTCATAGCCTGTCTTGGAAAGCACTCTTATTTTTCCTATTTGGGGAAAAAGAAGCAGAGGTATGGAAAGGCGTGTAGGGGTTCTTTCTTCCCTTCTTGGTTGTGGGGCAGTTGAACTATTCTTTCAACTGTTCTTGGATTTTAGATACTGTTATTATGAACATTTTTCAGAATTGTATTGCATATTTAGTTTAACAGTCTATATGAATTAAAGGAAATCAAAGTCCAGATAATAGCACAGATTTGAAGTGCTAGAGATTACTTTTTCCTTTAAAGTTACTTTAAGTTTTTCTTTTTAAATTGCTTTAGTTCATAGTTGAAGTCCAAAGTACACAAATCCCCATATCAAAAAGCTTAAAATTGAAGTCATCTAACTTAGTTTTAAAATTCTAACATTACTGTATTTGTAAACCAGCACCGAATTGCCATTAAGTTTCTTACAGTTCATGTTTCTGTATACATCTTTTTTTGTGATCTGACTTATTTTATTTTGCTTTATATTAGAATTTTTTAAACTCGAATGTTAGATCTTTTTCTGCTTTATTTCTGCCTCTTGTTTAACCTTTTCCTAGGTAGAACATGGAGATTAGTTTTTTAAGTTAACCTTAAAAAAAAAATAGGCTGGGTGCGGTGGCTCACGTCTGTAATCCCAGCACTTTGGGAGGCTGAGATGGGCAGATCACCTAAGGTCAGGAGACCAGCCTGGCCAACCATGGTCAATGTGGCAAAACCCTGTCTCTACTAAAAATACAAAAATTAGCTGGGCGCAATGGCGGGCGCCTATAATCCCCAGCTACTCGGGAGGCTGAGACAGGAGAATCTCTTGAATCTGGGAGGCGGAGGTTGCAGTGAGCTGAGATCGCACCACTGTACTACAGCCTGGGCAACAGAACGAGACTCTGTCTCAAAAACAAAAACAAACAACAACAACAAAACAAACAAAAACACCAAACAGGCCAGGTGCAGCGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGTGGGCGGATCATGAGGTCAGGAGTTCAAGACCAGCCTGACCAACATGGAGAAGCCCTGTCTCTACAAAAAATACAAAAATTAGCTGGACGTGGTGGCACATACCTGTAATCCCAGCTACTTGGGAGGCTGAGGTGGGAAAATCTCTTG
Task1_train_27678
Gene PANK2 (pantothenate kinase 2) on Chromosome 20 is altered by this variant. Does this mutation result in a disease or is it benign?
Pathogenic; Hypoprebetalipoproteinemia, acanthocytosis, retinitis pigmentosa, and pallidal degeneration
GTGAATATCTGGTATCCAAGCTAGATTTCAGTAGAAACCGCAGGGAAAGCTGTCTGCTCATTTAGAATGTTGGAGGGCTCTGTTTGAAGTTTGCATTTCTCTTTGAACAGATGCTCCATTGCAAAATAAAAGGTTTGAAGATTTCAACAATGTTGCCCTAAAAGCTAATTTTATTTCAATAAAGTAACATTCAAGTTCTGTTGGGCTTTGTTGCTGTTGGTTTAGCAATGGGATTTTTTTTCCCCCATCACAGCTTTGGAAACATGATGAGCAAGGAGAAGCGAGAGGCTGTCAGTAAAGAGGACCTGGCCAGAGCGACTTTGATCACCATCACCAACAACATTGGCTCAATAGCAAGAATGTGTGCCCTTAATGAAGTAAGGGGACATGGATTTCTTTAATTGCTCTAAGGAAAATACTGAACTTAAGTGGGCCCCATCACGTCTGTTTTCTCAGAACAGTGCCTAAATGTAGTCATTTGGGGTGGGGTTTGTTTTAGCACGAAGTTAAAACTCTTCAAATACAGATTAATCTTCTTTTTTTTTTTTTTAAACTGAAGATAAACATTGCTACTTGTCTAGAGGTAAAATGACATCTTTTGAGGAGAAAGTAGAGGAAGAGTGGAAGGTAGCCAGTGTTCCAGATATTGGGGACTGTTGGGGGTGATGATGGATAACGATGCTGAATGTAGACTCCACACTCACTGCTGAGCTCTAGAGGCCCTAGGGAGGAATCCAGAGGAAGTCACGGAAGCTGGGAGAAGACTGAGCAGGCCGAGGGGTGCCCTCCTTGGCTCCCCCACCTCAGCAGAGCTGCGTCTTTGTGCTTTCAGCTTCTTTACAGTGCTGCCTTGTAGCATTCAGGTCAAGCAGCATTGTACAGGGCTATGAAAGAACCAAGAATGGGCTGCCCTTGGGAAAAGAGGATCTAGGATCCAGTTGGTGCAGCTTATGGCTTGTCCCTGTGTGTATAGTTGTTAAATTATTCTTTTATTTTTATTTTTAAGAAGTTATTCTTTAGATAATAATAGGCATGTAGCTTAAAAGGAAACCTCAAAAGACACAAAGGATTTGTCTCATTTTAAATTAAAAAAATACTGTATCAGCATCAAGTAATTAAACATTTGTTGGAATATCATAACTTCTTTTTTCTTTATTGTATGTTCCCTTTCCTGTGCTTACGTATTTTCAGAAATTTTAGTTGGTGTGCATACCACAATTTGTATTTTATACTTAAATATACATTTCATGGTTGTATATTTATTTGATCAAGTTCTTTTATATCAAATAACAGAGCTTGGCATTTGGTTGCTTGCTCATAACTCGGCAGTAAGCATTTTTAAGCATGAAGTTATTCTTTGGTTGAATTTTATTCTTGATATGGGGCTTAGGAGTGAGATTTCTGGTCTACAGAAATGATCATGCTCATGAATTTTGACATTTATCGTCATGATGCTTTGCACAAGGGCTGCACCAATTTAGATCATCTTTAGCGGTGAATGAGTGGATTAATTTTACTACAACTACTGATGGTGGTGGTGGAATTTCAGTTGCTTTTTTTTGCGAGGTTAATAGGTCTAAAATTTTACTTTTGTTTGATGACTAGTGGTTTGAATTTTTCGCTGCCTGTTATATTGCTTGTATACTTTGCCTGTTTGTGTCACTGTCCTTTTGGATTGGAGTCATACTGTTTTTTTTTGTTTATTTTAACTTATCTGTATAAAACATTGTATTCAAAACTAGTTATTGTTGGTCAGATTTAATACAAATGTTTTTCCTAATCTGTTTTCTTCTCCTGTGACATTATCTAGCATGCTTTGCAGTGGGTCCAGAGTTGTCTGGGGATCAAGTTTAAGTAGCCCTGGACCAACTGGACTAAATTTGATCAGCAGTCAAATTGTTGCTAAGAGCTATGCACATGGTGCTGTATTTGGGGTAGCTTTTATGAGAAAATAGAAATTAAGATGAAAACTAATTGCCTTTTTTTGGTGTGCTCAGAACATTAACCAGGTGGTATTTGTTGGAAATTTCTTGAGAATTAATACGATCGCCATGCGGCTTTTGGCATATGCTTTGGATTATTGGTCCAAGGGGCAGTTGAAAGCACTTTTTTCGGAACACGAGGTAAGCTGACTTGTTCGTTGTGGTATATTATGTACACAGAGGGCTTGTGGGTCACACTGTCATGGAACTTGAGGTAGAGGGTGGAGGTGAAATGGGCTGCAGTGTTTCTTTTGTTTTTTGTTTTTTTGAGACGGAGTCTCGCTCTGTCACCTAGGTTGGAGTGCGTGGCACAGTCTTGGGGCTCACTGCAGCCTCCGCCTCCTGGGTTCAAGCAGTCCTCCCACCTCAGTCTCTTAAGTAGCTGGGATTACAAGTGTGCGCCCCCACACCCTGCTAATTTTTGTACTTTCAGTAGAAATGGGGTTTCACCATGTTGGCCAAGCTGGTCTGGTCTCAAACTCCTGACCTTAAGTGATCTGCCAGCCTCAGCCTCCCAAAGTTCCAGGATTACAGGTGTGAACCACTGTGCCTGAACTTTTTTGGTAGTTTAATTTCGTAACATTTGAAAGCTGTTTCTTCCCTGATACTAATGCAAGGTAAATTTTGGGTTAATTTAATTGTAAGCTTAAGGAATTTTAGAGAAAAACCCTTGAACATTCCCCTATATTTCTGATGCCATATTTTTGTCTGAACTATCCTCTATATTTTTTCTATTGCACTGACTGTGTCATTACTCTGGGTTCTGGTTTTTTCATTTTTTTCAGTGCCAGTTTTTATATATTGTTGTAATTCTTGTGCCAGTTATTTAAGATGCATGTTGTAAAAATGAATAGATGAGTAAACCTCTCAGACTAGAACCATACTATCATAAGAACTTAAGTACAATTGTAGACAGGCTGGAAATGATGAAATGGAAAAGAATCAAATTGCTCAACCTCATAGCCTGTCTTGGAAAGCACTCTTATTTTTCCTATTTGGGGAAAAAGAAGCAGAGGTATGGAAAGGCGTGTAGGGGTTCTTTCTTCCCTTCTTGGTTGTGGGGCAGTTGAACTATTCTTTCAACTGTTCTTGGATTTTAGATACTGTTATTATGAACATTTTTCAGAATTGTATTGCATATTTAGTTTAACAGTCTATATGAATTAAAGGAAATCAAAGTCCAGATAATAGCACAGATTTGAAGTGCTAGAGATTACTTTTTCCTTTAAAGTTACTTTAAGTTTTTCTTTTTAAATTGCTTTAGTTCATAGTTGAAGTCCAAAGTACACAAATCCCCATATCAAAAAGCTTAAAATTGAAGTCATCTAACTTAGTTTTAAAATTCTAACATTACTGTATTTGTAAACCAGCACCGAATTGCCATTAAGTTTCTTACAGTTCATGTTTCTGTATACATCTTTTTTTGTGATCTGACTTATTTTATTTTGCTTTATATTAGAATTTTTTAAACTCGAATGTTAGATCTTTTTCTGCTTTATTTCTGCCTCTTGTTTAACCTTTTCCTAGGTAGAACATGGAGATTAGTTTTTTAAGTTAACCTTAAAAAAAAAATAGGCTGGGTGCGGTGGCTCACGTCTGTAATCCCAGCACTTTGGGAGGCTGAGATGGGCAGATCACCTAAGGTCAGGAGACCAGCCTGGCCAACCATGGTCAATGTGGCAAAACCCTGTCTCTACTAAAAATACAAAAATTAGCTGGGCGCAATGGCGGGCGCCTATAATCCCCAGCTACTCGGGAGGCTGAGACAGGAGAATCTCTTGAATCTGGGAGGCGGAGGTTGCAGTGAGCTGAGATCGCACCACTGTACTACAGCCTGGGCAACAGAACGAGACTCTGTCTCAAAAACAAAAACAAACAACAACAACAAAACAAACAAAAACACCAAACAGGCCAGGTGCAGCGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGTGGGCGGATCATGAGGTCAGGAGTTCAAGACCAGCCTGACCAACATGGAGAAGCCCTGTCTCTACAAAAAATACAAAAATTAGCTGGACGTGGTGGCACATACCTGTAATCCCAGCTACTTGGGAGGCTGAGGTGGGAAAATCTCTTGAACCC
GTGAATATCTGGTATCCAAGCTAGATTTCAGTAGAAACCGCAGGGAAAGCTGTCTGCTCATTTAGAATGTTGGAGGGCTCTGTTTGAAGTTTGCATTTCTCTTTGAACAGATGCTCCATTGCAAAATAAAAGGTTTGAAGATTTCAACAATGTTGCCCTAAAAGCTAATTTTATTTCAATAAAGTAACATTCAAGTTCTGTTGGGCTTTGTTGCTGTTGGTTTAGCAATGGGATTTTTTTTCCCCCATCACAGCTTTGGAAACATGATGAGCAAGGAGAAGCGAGAGGCTGTCAGTAAAGAGGACCTGGCCAGAGCGACTTTGATCACCATCACCAACAACATTGGCTCAATAGCAAGAATGTGTGCCCTTAATGAAGTAAGGGGACATGGATTTCTTTAATTGCTCTAAGGAAAATACTGAACTTAAGTGGGCCCCATCACGTCTGTTTTCTCAGAACAGTGCCTAAATGTAGTCATTTGGGGTGGGGTTTGTTTTAGCACGAAGTTAAAACTCTTCAAATACAGATTAATCTTCTTTTTTTTTTTTTTAAACTGAAGATAAACATTGCTACTTGTCTAGAGGTAAAATGACATCTTTTGAGGAGAAAGTAGAGGAAGAGTGGAAGGTAGCCAGTGTTCCAGATATTGGGGACTGTTGGGGGTGATGATGGATAACGATGCTGAATGTAGACTCCACACTCACTGCTGAGCTCTAGAGGCCCTAGGGAGGAATCCAGAGGAAGTCACGGAAGCTGGGAGAAGACTGAGCAGGCCGAGGGGTGCCCTCCTTGGCTCCCCCACCTCAGCAGAGCTGCGTCTTTGTGCTTTCAGCTTCTTTACAGTGCTGCCTTGTAGCATTCAGGTCAAGCAGCATTGTACAGGGCTATGAAAGAACCAAGAATGGGCTGCCCTTGGGAAAAGAGGATCTAGGATCCAGTTGGTGCAGCTTATGGCTTGTCCCTGTGTGTATAGTTGTTAAATTATTCTTTTATTTTTATTTTTAAGAAGTTATTCTTTAGATAATAATAGGCATGTAGCTTAAAAGGAAACCTCAAAAGACACAAAGGATTTGTCTCATTTTAAATTAAAAAAATACTGTATCAGCATCAAGTAATTAAACATTTGTTGGAATATCATAACTTCTTTTTTCTTTATTGTATGTTCCCTTTCCTGTGCTTACGTATTTTCAGAAATTTTAGTTGGTGTGCATACCACAATTTGTATTTTATACTTAAATATACATTTCATGGTTGTATATTTATTTGATCAAGTTCTTTTATATCAAATAACAGAGCTTGGCATTTGGTTGCTTGCTCATAACTCGGCAGTAAGCATTTTTAAGCATGAAGTTATTCTTTGGTTGAATTTTATTCTTGATATGGGGCTTAGGAGTGAGATTTCTGGTCTACAGAAATGATCATGCTCATGAATTTTGACATTTATCGTCATGATGCTTTGCACAAGGGCTGCACCAATTTAGATCATCTTTAGCGGTGAATGAGTGGATTAATTTTACTACAACTACTGATGGTGGTGGTGGAATTTCAGTTGCTTTTTTTTGCGAGGTTAATAGGTCTAAAATTTTACTTTTGTTTGATGACTAGTGGTTTGAATTTTTCGCTGCCTGTTATATTGCTTGTATACTTTGCCTGTTTGTGTCACTGTCCTTTTGGATTGGAGTCATACTGTTTTTTTTTGTTTATTTTAACTTATCTGTATAAAACATTGTATTCAAAACTAGTTATTGTTGGTCAGATTTAATACAAATGTTTTTCCTAATCTGTTTTCTTCTCCTGTGACATTATCTAGCATGCTTTGCAGTGGGTCCAGAGTTGTCTGGGGATCAAGTTTAAGTAGCCCTGGACCAACTGGACTAAATTTGATCAGCAGTCAAATTGTTGCTAAGAGCTATGCACATGGTGCTGTATTTGGGGTAGCTTTTATGAGAAAATAGAAATTAAGATGAAAACTAATTGCCTTTTTTTGGTGTGCTCAGAACATTAACCAGGTGGTATTTGTTGGAAATTTCTTGAGAATTAATACGATCACCATGCGGCTTTTGGCATATGCTTTGGATTATTGGTCCAAGGGGCAGTTGAAAGCACTTTTTTCGGAACACGAGGTAAGCTGACTTGTTCGTTGTGGTATATTATGTACACAGAGGGCTTGTGGGTCACACTGTCATGGAACTTGAGGTAGAGGGTGGAGGTGAAATGGGCTGCAGTGTTTCTTTTGTTTTTTGTTTTTTTGAGACGGAGTCTCGCTCTGTCACCTAGGTTGGAGTGCGTGGCACAGTCTTGGGGCTCACTGCAGCCTCCGCCTCCTGGGTTCAAGCAGTCCTCCCACCTCAGTCTCTTAAGTAGCTGGGATTACAAGTGTGCGCCCCCACACCCTGCTAATTTTTGTACTTTCAGTAGAAATGGGGTTTCACCATGTTGGCCAAGCTGGTCTGGTCTCAAACTCCTGACCTTAAGTGATCTGCCAGCCTCAGCCTCCCAAAGTTCCAGGATTACAGGTGTGAACCACTGTGCCTGAACTTTTTTGGTAGTTTAATTTCGTAACATTTGAAAGCTGTTTCTTCCCTGATACTAATGCAAGGTAAATTTTGGGTTAATTTAATTGTAAGCTTAAGGAATTTTAGAGAAAAACCCTTGAACATTCCCCTATATTTCTGATGCCATATTTTTGTCTGAACTATCCTCTATATTTTTTCTATTGCACTGACTGTGTCATTACTCTGGGTTCTGGTTTTTTCATTTTTTTCAGTGCCAGTTTTTATATATTGTTGTAATTCTTGTGCCAGTTATTTAAGATGCATGTTGTAAAAATGAATAGATGAGTAAACCTCTCAGACTAGAACCATACTATCATAAGAACTTAAGTACAATTGTAGACAGGCTGGAAATGATGAAATGGAAAAGAATCAAATTGCTCAACCTCATAGCCTGTCTTGGAAAGCACTCTTATTTTTCCTATTTGGGGAAAAAGAAGCAGAGGTATGGAAAGGCGTGTAGGGGTTCTTTCTTCCCTTCTTGGTTGTGGGGCAGTTGAACTATTCTTTCAACTGTTCTTGGATTTTAGATACTGTTATTATGAACATTTTTCAGAATTGTATTGCATATTTAGTTTAACAGTCTATATGAATTAAAGGAAATCAAAGTCCAGATAATAGCACAGATTTGAAGTGCTAGAGATTACTTTTTCCTTTAAAGTTACTTTAAGTTTTTCTTTTTAAATTGCTTTAGTTCATAGTTGAAGTCCAAAGTACACAAATCCCCATATCAAAAAGCTTAAAATTGAAGTCATCTAACTTAGTTTTAAAATTCTAACATTACTGTATTTGTAAACCAGCACCGAATTGCCATTAAGTTTCTTACAGTTCATGTTTCTGTATACATCTTTTTTTGTGATCTGACTTATTTTATTTTGCTTTATATTAGAATTTTTTAAACTCGAATGTTAGATCTTTTTCTGCTTTATTTCTGCCTCTTGTTTAACCTTTTCCTAGGTAGAACATGGAGATTAGTTTTTTAAGTTAACCTTAAAAAAAAAATAGGCTGGGTGCGGTGGCTCACGTCTGTAATCCCAGCACTTTGGGAGGCTGAGATGGGCAGATCACCTAAGGTCAGGAGACCAGCCTGGCCAACCATGGTCAATGTGGCAAAACCCTGTCTCTACTAAAAATACAAAAATTAGCTGGGCGCAATGGCGGGCGCCTATAATCCCCAGCTACTCGGGAGGCTGAGACAGGAGAATCTCTTGAATCTGGGAGGCGGAGGTTGCAGTGAGCTGAGATCGCACCACTGTACTACAGCCTGGGCAACAGAACGAGACTCTGTCTCAAAAACAAAAACAAACAACAACAACAAAACAAACAAAAACACCAAACAGGCCAGGTGCAGCGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGTGGGCGGATCATGAGGTCAGGAGTTCAAGACCAGCCTGACCAACATGGAGAAGCCCTGTCTCTACAAAAAATACAAAAATTAGCTGGACGTGGTGGCACATACCTGTAATCCCAGCTACTTGGGAGGCTGAGGTGGGAAAATCTCTTGAACCC
Task1_train_27679
Gene PRNP (prion protein (Kanno blood group)), found on Chromosome 20, is impacted by this variant. What is the biological outcome — benign or pathogenic?
Pathogenic; Spongiform encephalopathy with neuropsychiatric features
TAGGTAGAGTGATGGGAACAGCCCCACTGAGCAAACTTTAGCCACATGAGTAGCTGGAAGAAAAGCCTTCTAGGACCAGGGAACAGCAAGTGCAACAGCCCTGAGACAGGATGGGCTTGTCAGTTTGAGGAGCAGTGGGAGGCCTGAACCAGGTTACATGGGGCCCAGCCAGTATGGCCACGACTTTGTGTTTTATCCAGAGTACAAAGGAGCCTCACTGAGGGACAAGGGAAGTGGCATGATGTGACCCGCATATTAAGAGGAGAGCGCTCAATGGCAGCCAGGGGAGGAGCAGGGAGGCTGGTTGGGAGGCTGTTGAAGAAATCAGGTGAGAAGTGATGGAAGCACCGAATAAGATGGTCATGTTGGAAAAATTGAGAAGCTGAGGTGCTTAGCATTGATTTTCAAGGTAGAGCTACTGAGATTTGCTGATAGATCCAATGTATGCTGGGAGAGAAAATTCAGTCACTCTAGAGCATTGGCTGGATTTGTCACCCATTGCAGCGAATGGAGAAGGTGCTGACATAAAAGCCCTTTAGACTGAAAGCTACTGACTGAGGGGATGGTGCCCTAGTTTGATTTCCTGGGGTGTATGAGTAGCAGGGAGGCCAAGAGCTGGGCCTCACGAGATTGTGGGGACTACATCAGGGAAGCAGGCCTGCAAAGAACCTGCACCACAGACCCCCACCTAAAAGAGCCTCCAAAAACCCTAACTGGCATGACCTGAGTACTTTAACTCTGCTTGTAACTTTCAAATATATTTTGATTTGCTTATGACCACCAAGGCAAAACTTCCCATTTCAATAATGTTAGTAGAAACATAAACAGGATGTTAATTTATTTATTTGGTAATTCTTTTTATGAATATTATCCAGTTTAATCATTAGCTCTGAAGGAGATGAAAAATAATTTTCTAATTTTTAGAAAAATTTGCAGCTAATTGGGTGATAAAGGTAAGGGGTTTCTGAGTTCACAAAAATGTTCTAAAATTGGCAACAGTTTCGGTTGCACGTTTCATTAAATGTACTAAAAACCATTGAACTGTACATGGTATATGGTGAATTATATGGTATGTGAATTATATCTCAACAAGCTGGGTATTGTTTTTTTAAAAAATAAAAATAAAAAAGGAGAAAGAGAGAGAGAAAAACAATTGCAGATCATCCCAGCACTGAGGACAAGACTAACTTCAGTGTTCCAGTATATGCCATTATAGGTTTTACGGCACACAGTGATGATTTGGAGCCTATGATTTGACCTAGGGTACAGCAGGTACTGTTTAGCAATCATTTTACTATTGTCATAGGTCTCTGCTCTTGGAGCTAAGTGCCCAGGGTAAATGAGATCTTTAATTTGAAAAGAGATTTTTGATTTGATGAATGTACATTCTCCAAAGGGTCATAAATTGTCATTCTGGATGTTTGATCTGTTTGTTGTTTTGGTACAAAAATTAGAAGAAAATAATTCACTCATAAAATGTTAAATAATGAACTAAAAGTCATTCATCAAGTCCATAACTTAGGGTCACATTTGTCCTTGGAGCAGGAGAAAGAGTTGTGTTCACCCTTTTCTTACTTTTGCTTTTGTCCTAAGTGCTTCAGAGAAGTACAGGGTGGCAACAGTGTTTCTACTGAGCAGCTGATACCATTGCTATGCACTCATTCATTATGCAGGAAACATTTAGTAATTTCAACATAAATATGGGACTCTGACGTTCTCCTCTTCATTTTGCAGAGCAGTCATTATGGCGAACCTTGGCTGCTGGATGCTGGTTCTCTTTGTGGCCACATGGAGTGACCTGGGCCTCTGCAAGAAGCGCCCGAAGCCTGGAGGATGGAACACTGGGGGCAGCCGATACCCGGGGCAGGGCAGCCCTGGAGGCAACCGCTACCCACCTCAGGGCGGTGGTGGCTGGGGGCAGCCTCATGGTGGTGGCTGGGGGCAGCCTCATGGTGGTGGCTGGGGGCAGCCCCATGGTGGTGGCTGGGGACAGCCTCATGGTGGTGGCTGGGGTCAAGGAGGTGGCACCCACAGTCAGTGGAACAAGCCGAGTAAGCCAAAAACCAACATGAAGCACATGGCTGGTGCTGCAGCAGCTGGGGCAGTGGTGGGGGGCCTTGGCGGCTACATGCTGGGAAGTGCCATGAGCAGGCCCATCATACATTTCGGCAGTGACTATGAGGACCGTTACTATCGTGAAAACATGCACCGTTACCCCAACCAAGTGTACTACAGGCCCATGGATGAGTACAGCAACCAGAACAACTTTGTGCACGACTGCGTCAATATCACAATCAAGCAGCACACGGTCACCACAACCACCAAGGGGGAGAACTTCACCGAGACCGACGTTAAGATGATGGAGCGCGTGGTTGAGCAGATGTGTATCACCCAGTACGAGAGGGAATCTCAGGCCTATTACCAGAGAGGATCGAGCATGGTCCTCTTCTCCTCTCCACCTGTGATCCTCCTGATCTCTTTCCTCATCTTCCTGATAGTGGGATGAGGAAGGTCTTCCTGTTTTCACCATCTTTCTAATCTTTTTCCAGCTTGAGGGAGGCGGTATCCACCTGCAGCCCTTTTAGTGGTGGTGTCTCACTCTTTCTTCTCTCTTTGTCCCGGATAGGCTAATCAATACCCTTGGCACTGATGGGCACTGGAAAACATAGAGTAGACCTGAGATGCTGGTCAAGCCCCCTTTGATTGAGTTCATCATGAGCCGTTGCTAATGCCAGGCCAGTAAAAGTATAACAGCAAATAACCATTGGTTAATCTGGACTTATTTTTGGACTTAGTGCAACAGGTTGAGGCTAAAACAAATCTCAGAACAGTCTGAAATACCTTTGCCTGGATACCTCTGGCTCCTTCAGCAGCTAGAGCTCAGTATACTAATGCCCTATCTTAGTAGAGATTTCATAGCTATTTAGAGATATTTTCCATTTTAAGAAAACCCGACAACATTTCTGCCAGGTTTGTTAGGAGGCCACATGATACTTATTCAAAAAAATCCTAGAGATTCTTAGCTCTTGGGATGCAGGCTCAGCCCGCTGGAGCATGAGCTCTGTGTGTACCGAGAACTGGGGTGATGTTTTACTTTTCACAGTATGGGCTACACAGCAGCTGTTCAACAAGAGTAAATATTGTCACAACACTGAACCTCTGGCTAGAGGACATATTCACAGTGAACATAACTGTAACATATATGAAAGGCTTCTGGGACTTGAAATCAAATGTTTGGGAATGGTGCCCTTGGAGGCAACCTCCCATTTTAGATGTTTAAAGGACCCTATATGTGGCATTCCTTTCTTTAAACTATAGGTAATTAAGGCAGCTGAAAAGTAAATTGCCTTCTAGACACTGAAGGCAAATCTCCTTTGTCCATTTACCTGGAAACCAGAATGATTTTGACATACAGGAGAGCTGCAGTTGTGAAAGCACCATCATCATAGAGGATGATGTAATTAAAAAATGGTCAGTGTGCAAAGAAAAGAACTGCTTGCATTTCTTTATTTCTGTCTCATAATTGTCAAAAACCAGAATTAGGTCAAGTTCATAGTTTCTGTAATTGGCTTTTGAATCAAAGAATAGGGAGACAATCTAAAAAATATCTTAGGTTGGAGATGACAGAAATATGATTGATTTGAAGTGGAAAAAGAAATTCTGTTAATGTTAATTAAAGTAAAATTATTCCCTGAATTGTTTGATATTGTCACCTAGCAGATATGTATTACTTTTCTGCAATGTTATTATTGGCTTGCACTTTGTGAGTATTCTATGTAAAAATATATATGTATATAAAATATATATTGCATAGGACAGACTTAGGAGTTTTGTTTAGAGCAGTTAACATCTGAAGTGTCTAATGCATTAACTTTTGTAAGGTACTGAATACTTAATATGTGGGAAACCCTTTTGCGTGGTCCTTAGGCTTACAATGTGCACTGAATCGTTTCATGTAAGAATCCAAAGTGGACACCATTAACAGGTCTTTGAAATATGCATGTACTTTATATTTTCTATATTTGTAACTTTGCATGTTCTTGTTTTGTTATATAAAAAAATTGTAAATGTTTAATATCTGACTGAAATTAAACGA
TAGGTAGAGTGATGGGAACAGCCCCACTGAGCAAACTTTAGCCACATGAGTAGCTGGAAGAAAAGCCTTCTAGGACCAGGGAACAGCAAGTGCAACAGCCCTGAGACAGGATGGGCTTGTCAGTTTGAGGAGCAGTGGGAGGCCTGAACCAGGTTACATGGGGCCCAGCCAGTATGGCCACGACTTTGTGTTTTATCCAGAGTACAAAGGAGCCTCACTGAGGGACAAGGGAAGTGGCATGATGTGACCCGCATATTAAGAGGAGAGCGCTCAATGGCAGCCAGGGGAGGAGCAGGGAGGCTGGTTGGGAGGCTGTTGAAGAAATCAGGTGAGAAGTGATGGAAGCACCGAATAAGATGGTCATGTTGGAAAAATTGAGAAGCTGAGGTGCTTAGCATTGATTTTCAAGGTAGAGCTACTGAGATTTGCTGATAGATCCAATGTATGCTGGGAGAGAAAATTCAGTCACTCTAGAGCATTGGCTGGATTTGTCACCCATTGCAGCGAATGGAGAAGGTGCTGACATAAAAGCCCTTTAGACTGAAAGCTACTGACTGAGGGGATGGTGCCCTAGTTTGATTTCCTGGGGTGTATGAGTAGCAGGGAGGCCAAGAGCTGGGCCTCACGAGATTGTGGGGACTACATCAGGGAAGCAGGCCTGCAAAGAACCTGCACCACAGACCCCCACCTAAAAGAGCCTCCAAAAACCCTAACTGGCATGACCTGAGTACTTTAACTCTGCTTGTAACTTTCAAATATATTTTGATTTGCTTATGACCACCAAGGCAAAACTTCCCATTTCAATAATGTTAGTAGAAACATAAACAGGATGTTAATTTATTTATTTGGTAATTCTTTTTATGAATATTATCCAGTTTAATCATTAGCTCTGAAGGAGATGAAAAATAATTTTCTAATTTTTAGAAAAATTTGCAGCTAATTGGGTGATAAAGGTAAGGGGTTTCTGAGTTCACAAAAATGTTCTAAAATTGGCAACAGTTTCGGTTGCACGTTTCATTAAATGTACTAAAAACCATTGAACTGTACATGGTATATGGTGAATTATATGGTATGTGAATTATATCTCAACAAGCTGGGTATTGTTTTTTTAAAAAATAAAAATAAAAAAGGAGAAAGAGAGAGAGAAAAACAATTGCAGATCATCCCAGCACTGAGGACAAGACTAACTTCAGTGTTCCAGTATATGCCATTATAGGTTTTACGGCACACAGTGATGATTTGGAGCCTATGATTTGACCTAGGGTACAGCAGGTACTGTTTAGCAATCATTTTACTATTGTCATAGGTCTCTGCTCTTGGAGCTAAGTGCCCAGGGTAAATGAGATCTTTAATTTGAAAAGAGATTTTTGATTTGATGAATGTACATTCTCCAAAGGGTCATAAATTGTCATTCTGGATGTTTGATCTGTTTGTTGTTTTGGTACAAAAATTAGAAGAAAATAATTCACTCATAAAATGTTAAATAATGAACTAAAAGTCATTCATCAAGTCCATAACTTAGGGTCACATTTGTCCTTGGAGCAGGAGAAAGAGTTGTGTTCACCCTTTTCTTACTTTTGCTTTTGTCCTAAGTGCTTCAGAGAAGTACAGGGTGGCAACAGTGTTTCTACTGAGCAGCTGATACCATTGCTATGCACTCATTCATTATGCAGGAAACATTTAGTAATTTCAACATAAATATGGGACTCTGACGTTCTCCTCTTCATTTTGCAGAGCAGTCATTATGGCGAACCTTGGCTGCTGGATGCTGGTTCTCTTTGTGGCCACATGGAGTGACCTGGGCCTCTGCAAGAAGCGCCCGAAGCCTGGAGGATGGAACACTGGGGGCAGCCGATACCCGGGGCAGGGCAGCCCTGGAGGCAACCGCTACCCACCTCAGGGCGGTGGTGGCTGGGGGCAGCCTCATGGTGGTGGCTGGGGGCAGCCTCATGGTGGTGGCTGGGGGCAGCCCCATGGTGGTGGCTGGGGACAGCCTCATGGTGGTGGCTGGGGTCAAGGAGGTGGCACCCACAGTCAGTGGAACAAGCTGAGTAAGCCAAAAACCAACATGAAGCACATGGCTGGTGCTGCAGCAGCTGGGGCAGTGGTGGGGGGCCTTGGCGGCTACATGCTGGGAAGTGCCATGAGCAGGCCCATCATACATTTCGGCAGTGACTATGAGGACCGTTACTATCGTGAAAACATGCACCGTTACCCCAACCAAGTGTACTACAGGCCCATGGATGAGTACAGCAACCAGAACAACTTTGTGCACGACTGCGTCAATATCACAATCAAGCAGCACACGGTCACCACAACCACCAAGGGGGAGAACTTCACCGAGACCGACGTTAAGATGATGGAGCGCGTGGTTGAGCAGATGTGTATCACCCAGTACGAGAGGGAATCTCAGGCCTATTACCAGAGAGGATCGAGCATGGTCCTCTTCTCCTCTCCACCTGTGATCCTCCTGATCTCTTTCCTCATCTTCCTGATAGTGGGATGAGGAAGGTCTTCCTGTTTTCACCATCTTTCTAATCTTTTTCCAGCTTGAGGGAGGCGGTATCCACCTGCAGCCCTTTTAGTGGTGGTGTCTCACTCTTTCTTCTCTCTTTGTCCCGGATAGGCTAATCAATACCCTTGGCACTGATGGGCACTGGAAAACATAGAGTAGACCTGAGATGCTGGTCAAGCCCCCTTTGATTGAGTTCATCATGAGCCGTTGCTAATGCCAGGCCAGTAAAAGTATAACAGCAAATAACCATTGGTTAATCTGGACTTATTTTTGGACTTAGTGCAACAGGTTGAGGCTAAAACAAATCTCAGAACAGTCTGAAATACCTTTGCCTGGATACCTCTGGCTCCTTCAGCAGCTAGAGCTCAGTATACTAATGCCCTATCTTAGTAGAGATTTCATAGCTATTTAGAGATATTTTCCATTTTAAGAAAACCCGACAACATTTCTGCCAGGTTTGTTAGGAGGCCACATGATACTTATTCAAAAAAATCCTAGAGATTCTTAGCTCTTGGGATGCAGGCTCAGCCCGCTGGAGCATGAGCTCTGTGTGTACCGAGAACTGGGGTGATGTTTTACTTTTCACAGTATGGGCTACACAGCAGCTGTTCAACAAGAGTAAATATTGTCACAACACTGAACCTCTGGCTAGAGGACATATTCACAGTGAACATAACTGTAACATATATGAAAGGCTTCTGGGACTTGAAATCAAATGTTTGGGAATGGTGCCCTTGGAGGCAACCTCCCATTTTAGATGTTTAAAGGACCCTATATGTGGCATTCCTTTCTTTAAACTATAGGTAATTAAGGCAGCTGAAAAGTAAATTGCCTTCTAGACACTGAAGGCAAATCTCCTTTGTCCATTTACCTGGAAACCAGAATGATTTTGACATACAGGAGAGCTGCAGTTGTGAAAGCACCATCATCATAGAGGATGATGTAATTAAAAAATGGTCAGTGTGCAAAGAAAAGAACTGCTTGCATTTCTTTATTTCTGTCTCATAATTGTCAAAAACCAGAATTAGGTCAAGTTCATAGTTTCTGTAATTGGCTTTTGAATCAAAGAATAGGGAGACAATCTAAAAAATATCTTAGGTTGGAGATGACAGAAATATGATTGATTTGAAGTGGAAAAAGAAATTCTGTTAATGTTAATTAAAGTAAAATTATTCCCTGAATTGTTTGATATTGTCACCTAGCAGATATGTATTACTTTTCTGCAATGTTATTATTGGCTTGCACTTTGTGAGTATTCTATGTAAAAATATATATGTATATAAAATATATATTGCATAGGACAGACTTAGGAGTTTTGTTTAGAGCAGTTAACATCTGAAGTGTCTAATGCATTAACTTTTGTAAGGTACTGAATACTTAATATGTGGGAAACCCTTTTGCGTGGTCCTTAGGCTTACAATGTGCACTGAATCGTTTCATGTAAGAATCCAAAGTGGACACCATTAACAGGTCTTTGAAATATGCATGTACTTTATATTTTCTATATTTGTAACTTTGCATGTTCTTGTTTTGTTATATAAAAAAATTGTAAATGTTTAATATCTGACTGAAATTAAACGA
Task1_train_27680
Consider this mutation in PRNP (prion protein (Kanno blood group)) on Chromosome 20. Is this a benign change or a disease-causing variant?
Pathogenic; Huntington disease-like 1
TAGGTAGAGTGATGGGAACAGCCCCACTGAGCAAACTTTAGCCACATGAGTAGCTGGAAGAAAAGCCTTCTAGGACCAGGGAACAGCAAGTGCAACAGCCCTGAGACAGGATGGGCTTGTCAGTTTGAGGAGCAGTGGGAGGCCTGAACCAGGTTACATGGGGCCCAGCCAGTATGGCCACGACTTTGTGTTTTATCCAGAGTACAAAGGAGCCTCACTGAGGGACAAGGGAAGTGGCATGATGTGACCCGCATATTAAGAGGAGAGCGCTCAATGGCAGCCAGGGGAGGAGCAGGGAGGCTGGTTGGGAGGCTGTTGAAGAAATCAGGTGAGAAGTGATGGAAGCACCGAATAAGATGGTCATGTTGGAAAAATTGAGAAGCTGAGGTGCTTAGCATTGATTTTCAAGGTAGAGCTACTGAGATTTGCTGATAGATCCAATGTATGCTGGGAGAGAAAATTCAGTCACTCTAGAGCATTGGCTGGATTTGTCACCCATTGCAGCGAATGGAGAAGGTGCTGACATAAAAGCCCTTTAGACTGAAAGCTACTGACTGAGGGGATGGTGCCCTAGTTTGATTTCCTGGGGTGTATGAGTAGCAGGGAGGCCAAGAGCTGGGCCTCACGAGATTGTGGGGACTACATCAGGGAAGCAGGCCTGCAAAGAACCTGCACCACAGACCCCCACCTAAAAGAGCCTCCAAAAACCCTAACTGGCATGACCTGAGTACTTTAACTCTGCTTGTAACTTTCAAATATATTTTGATTTGCTTATGACCACCAAGGCAAAACTTCCCATTTCAATAATGTTAGTAGAAACATAAACAGGATGTTAATTTATTTATTTGGTAATTCTTTTTATGAATATTATCCAGTTTAATCATTAGCTCTGAAGGAGATGAAAAATAATTTTCTAATTTTTAGAAAAATTTGCAGCTAATTGGGTGATAAAGGTAAGGGGTTTCTGAGTTCACAAAAATGTTCTAAAATTGGCAACAGTTTCGGTTGCACGTTTCATTAAATGTACTAAAAACCATTGAACTGTACATGGTATATGGTGAATTATATGGTATGTGAATTATATCTCAACAAGCTGGGTATTGTTTTTTTAAAAAATAAAAATAAAAAAGGAGAAAGAGAGAGAGAAAAACAATTGCAGATCATCCCAGCACTGAGGACAAGACTAACTTCAGTGTTCCAGTATATGCCATTATAGGTTTTACGGCACACAGTGATGATTTGGAGCCTATGATTTGACCTAGGGTACAGCAGGTACTGTTTAGCAATCATTTTACTATTGTCATAGGTCTCTGCTCTTGGAGCTAAGTGCCCAGGGTAAATGAGATCTTTAATTTGAAAAGAGATTTTTGATTTGATGAATGTACATTCTCCAAAGGGTCATAAATTGTCATTCTGGATGTTTGATCTGTTTGTTGTTTTGGTACAAAAATTAGAAGAAAATAATTCACTCATAAAATGTTAAATAATGAACTAAAAGTCATTCATCAAGTCCATAACTTAGGGTCACATTTGTCCTTGGAGCAGGAGAAAGAGTTGTGTTCACCCTTTTCTTACTTTTGCTTTTGTCCTAAGTGCTTCAGAGAAGTACAGGGTGGCAACAGTGTTTCTACTGAGCAGCTGATACCATTGCTATGCACTCATTCATTATGCAGGAAACATTTAGTAATTTCAACATAAATATGGGACTCTGACGTTCTCCTCTTCATTTTGCAGAGCAGTCATTATGGCGAACCTTGGCTGCTGGATGCTGGTTCTCTTTGTGGCCACATGGAGTGACCTGGGCCTCTGCAAGAAGCGCCCGAAGCCTGGAGGATGGAACACTGGGGGCAGCCGATACCCGGGGCAGGGCAGCCCTGGAGGCAACCGCTACCCACCTCAGGGCGGTGGTGGCTGGGGGCAGCCTCATGGTGGTGGCTGGGGGCAGCCTCATGGTGGTGGCTGGGGGCAGCCCCATGGTGGTGGCTGGGGACAGCCTCATGGTGGTGGCTGGGGTCAAGGAGGTGGCACCCACAGTCAGTGGAACAAGCCGAGTAAGCCAAAAACCAACATGAAGCACATGGCTGGTGCTGCAGCAGCTGGGGCAGTGGTGGGGGGCCTTGGCGGCTACATGCTGGGAAGTGCCATGAGCAGGCCCATCATACATTTCGGCAGTGACTATGAGGACCGTTACTATCGTGAAAACATGCACCGTTACCCCAACCAAGTGTACTACAGGCCCATGGATGAGTACAGCAACCAGAACAACTTTGTGCACGACTGCGTCAATATCACAATCAAGCAGCACACGGTCACCACAACCACCAAGGGGGAGAACTTCACCGAGACCGACGTTAAGATGATGGAGCGCGTGGTTGAGCAGATGTGTATCACCCAGTACGAGAGGGAATCTCAGGCCTATTACCAGAGAGGATCGAGCATGGTCCTCTTCTCCTCTCCACCTGTGATCCTCCTGATCTCTTTCCTCATCTTCCTGATAGTGGGATGAGGAAGGTCTTCCTGTTTTCACCATCTTTCTAATCTTTTTCCAGCTTGAGGGAGGCGGTATCCACCTGCAGCCCTTTTAGTGGTGGTGTCTCACTCTTTCTTCTCTCTTTGTCCCGGATAGGCTAATCAATACCCTTGGCACTGATGGGCACTGGAAAACATAGAGTAGACCTGAGATGCTGGTCAAGCCCCCTTTGATTGAGTTCATCATGAGCCGTTGCTAATGCCAGGCCAGTAAAAGTATAACAGCAAATAACCATTGGTTAATCTGGACTTATTTTTGGACTTAGTGCAACAGGTTGAGGCTAAAACAAATCTCAGAACAGTCTGAAATACCTTTGCCTGGATACCTCTGGCTCCTTCAGCAGCTAGAGCTCAGTATACTAATGCCCTATCTTAGTAGAGATTTCATAGCTATTTAGAGATATTTTCCATTTTAAGAAAACCCGACAACATTTCTGCCAGGTTTGTTAGGAGGCCACATGATACTTATTCAAAAAAATCCTAGAGATTCTTAGCTCTTGGGATGCAGGCTCAGCCCGCTGGAGCATGAGCTCTGTGTGTACCGAGAACTGGGGTGATGTTTTACTTTTCACAGTATGGGCTACACAGCAGCTGTTCAACAAGAGTAAATATTGTCACAACACTGAACCTCTGGCTAGAGGACATATTCACAGTGAACATAACTGTAACATATATGAAAGGCTTCTGGGACTTGAAATCAAATGTTTGGGAATGGTGCCCTTGGAGGCAACCTCCCATTTTAGATGTTTAAAGGACCCTATATGTGGCATTCCTTTCTTTAAACTATAGGTAATTAAGGCAGCTGAAAAGTAAATTGCCTTCTAGACACTGAAGGCAAATCTCCTTTGTCCATTTACCTGGAAACCAGAATGATTTTGACATACAGGAGAGCTGCAGTTGTGAAAGCACCATCATCATAGAGGATGATGTAATTAAAAAATGGTCAGTGTGCAAAGAAAAGAACTGCTTGCATTTCTTTATTTCTGTCTCATAATTGTCAAAAACCAGAATTAGGTCAAGTTCATAGTTTCTGTAATTGGCTTTTGAATCAAAGAATAGGGAGACAATCTAAAAAATATCTTAGGTTGGAGATGACAGAAATATGATTGATTTGAAGTGGAAAAAGAAATTCTGTTAATGTTAATTAAAGTAAAATTATTCCCTGAATTGTTTGATATTGTCACCTAGCAGATATGTATTACTTTTCTGCAATGTTATTATTGGCTTGCACTTTGTGAGTATTCTATGTAAAAATATATATGTATATAAAATATATATTGCATAGGACAGACTTAGGAGTTTTGTTTAGAGCAGTTAACATCTGAAGTGTCTAATGCATTAACTTTTGTAAGGTACTGAATACTTAATATGTGGGAAACCCTTTTGCGTGGTCCTTAGGCTTACAATGTGCACTGAATCGTTTCATGTAAGAATCCAAAGTGGACACCATTAACAGGTCTTTGAAATATGCATGTACTTTATATTTTCTATATTTGTAACTTTGCATGTTCTTGTTTTGTTATATAAAAAAATTGTAAATGTTTAATATCTGACTGAAATTAAACGA
TAGGTAGAGTGATGGGAACAGCCCCACTGAGCAAACTTTAGCCACATGAGTAGCTGGAAGAAAAGCCTTCTAGGACCAGGGAACAGCAAGTGCAACAGCCCTGAGACAGGATGGGCTTGTCAGTTTGAGGAGCAGTGGGAGGCCTGAACCAGGTTACATGGGGCCCAGCCAGTATGGCCACGACTTTGTGTTTTATCCAGAGTACAAAGGAGCCTCACTGAGGGACAAGGGAAGTGGCATGATGTGACCCGCATATTAAGAGGAGAGCGCTCAATGGCAGCCAGGGGAGGAGCAGGGAGGCTGGTTGGGAGGCTGTTGAAGAAATCAGGTGAGAAGTGATGGAAGCACCGAATAAGATGGTCATGTTGGAAAAATTGAGAAGCTGAGGTGCTTAGCATTGATTTTCAAGGTAGAGCTACTGAGATTTGCTGATAGATCCAATGTATGCTGGGAGAGAAAATTCAGTCACTCTAGAGCATTGGCTGGATTTGTCACCCATTGCAGCGAATGGAGAAGGTGCTGACATAAAAGCCCTTTAGACTGAAAGCTACTGACTGAGGGGATGGTGCCCTAGTTTGATTTCCTGGGGTGTATGAGTAGCAGGGAGGCCAAGAGCTGGGCCTCACGAGATTGTGGGGACTACATCAGGGAAGCAGGCCTGCAAAGAACCTGCACCACAGACCCCCACCTAAAAGAGCCTCCAAAAACCCTAACTGGCATGACCTGAGTACTTTAACTCTGCTTGTAACTTTCAAATATATTTTGATTTGCTTATGACCACCAAGGCAAAACTTCCCATTTCAATAATGTTAGTAGAAACATAAACAGGATGTTAATTTATTTATTTGGTAATTCTTTTTATGAATATTATCCAGTTTAATCATTAGCTCTGAAGGAGATGAAAAATAATTTTCTAATTTTTAGAAAAATTTGCAGCTAATTGGGTGATAAAGGTAAGGGGTTTCTGAGTTCACAAAAATGTTCTAAAATTGGCAACAGTTTCGGTTGCACGTTTCATTAAATGTACTAAAAACCATTGAACTGTACATGGTATATGGTGAATTATATGGTATGTGAATTATATCTCAACAAGCTGGGTATTGTTTTTTTAAAAAATAAAAATAAAAAAGGAGAAAGAGAGAGAGAAAAACAATTGCAGATCATCCCAGCACTGAGGACAAGACTAACTTCAGTGTTCCAGTATATGCCATTATAGGTTTTACGGCACACAGTGATGATTTGGAGCCTATGATTTGACCTAGGGTACAGCAGGTACTGTTTAGCAATCATTTTACTATTGTCATAGGTCTCTGCTCTTGGAGCTAAGTGCCCAGGGTAAATGAGATCTTTAATTTGAAAAGAGATTTTTGATTTGATGAATGTACATTCTCCAAAGGGTCATAAATTGTCATTCTGGATGTTTGATCTGTTTGTTGTTTTGGTACAAAAATTAGAAGAAAATAATTCACTCATAAAATGTTAAATAATGAACTAAAAGTCATTCATCAAGTCCATAACTTAGGGTCACATTTGTCCTTGGAGCAGGAGAAAGAGTTGTGTTCACCCTTTTCTTACTTTTGCTTTTGTCCTAAGTGCTTCAGAGAAGTACAGGGTGGCAACAGTGTTTCTACTGAGCAGCTGATACCATTGCTATGCACTCATTCATTATGCAGGAAACATTTAGTAATTTCAACATAAATATGGGACTCTGACGTTCTCCTCTTCATTTTGCAGAGCAGTCATTATGGCGAACCTTGGCTGCTGGATGCTGGTTCTCTTTGTGGCCACATGGAGTGACCTGGGCCTCTGCAAGAAGCGCCCGAAGCCTGGAGGATGGAACACTGGGGGCAGCCGATACCCGGGGCAGGGCAGCCCTGGAGGCAACCGCTACCCACCTCAGGGCGGTGGTGGCTGGGGGCAGCCTCATGGTGGTGGCTGGGGGCAGCCTCATGGTGGTGGCTGGGGGCAGCCCCATGGTGGTGGCTGGGGACAGCCTCATGGTGGTGGCTGGGGTCAAGGAGGTGGCACCCACAGTCAGTGGAACAAGCTGAGTAAGCCAAAAACCAACATGAAGCACATGGCTGGTGCTGCAGCAGCTGGGGCAGTGGTGGGGGGCCTTGGCGGCTACATGCTGGGAAGTGCCATGAGCAGGCCCATCATACATTTCGGCAGTGACTATGAGGACCGTTACTATCGTGAAAACATGCACCGTTACCCCAACCAAGTGTACTACAGGCCCATGGATGAGTACAGCAACCAGAACAACTTTGTGCACGACTGCGTCAATATCACAATCAAGCAGCACACGGTCACCACAACCACCAAGGGGGAGAACTTCACCGAGACCGACGTTAAGATGATGGAGCGCGTGGTTGAGCAGATGTGTATCACCCAGTACGAGAGGGAATCTCAGGCCTATTACCAGAGAGGATCGAGCATGGTCCTCTTCTCCTCTCCACCTGTGATCCTCCTGATCTCTTTCCTCATCTTCCTGATAGTGGGATGAGGAAGGTCTTCCTGTTTTCACCATCTTTCTAATCTTTTTCCAGCTTGAGGGAGGCGGTATCCACCTGCAGCCCTTTTAGTGGTGGTGTCTCACTCTTTCTTCTCTCTTTGTCCCGGATAGGCTAATCAATACCCTTGGCACTGATGGGCACTGGAAAACATAGAGTAGACCTGAGATGCTGGTCAAGCCCCCTTTGATTGAGTTCATCATGAGCCGTTGCTAATGCCAGGCCAGTAAAAGTATAACAGCAAATAACCATTGGTTAATCTGGACTTATTTTTGGACTTAGTGCAACAGGTTGAGGCTAAAACAAATCTCAGAACAGTCTGAAATACCTTTGCCTGGATACCTCTGGCTCCTTCAGCAGCTAGAGCTCAGTATACTAATGCCCTATCTTAGTAGAGATTTCATAGCTATTTAGAGATATTTTCCATTTTAAGAAAACCCGACAACATTTCTGCCAGGTTTGTTAGGAGGCCACATGATACTTATTCAAAAAAATCCTAGAGATTCTTAGCTCTTGGGATGCAGGCTCAGCCCGCTGGAGCATGAGCTCTGTGTGTACCGAGAACTGGGGTGATGTTTTACTTTTCACAGTATGGGCTACACAGCAGCTGTTCAACAAGAGTAAATATTGTCACAACACTGAACCTCTGGCTAGAGGACATATTCACAGTGAACATAACTGTAACATATATGAAAGGCTTCTGGGACTTGAAATCAAATGTTTGGGAATGGTGCCCTTGGAGGCAACCTCCCATTTTAGATGTTTAAAGGACCCTATATGTGGCATTCCTTTCTTTAAACTATAGGTAATTAAGGCAGCTGAAAAGTAAATTGCCTTCTAGACACTGAAGGCAAATCTCCTTTGTCCATTTACCTGGAAACCAGAATGATTTTGACATACAGGAGAGCTGCAGTTGTGAAAGCACCATCATCATAGAGGATGATGTAATTAAAAAATGGTCAGTGTGCAAAGAAAAGAACTGCTTGCATTTCTTTATTTCTGTCTCATAATTGTCAAAAACCAGAATTAGGTCAAGTTCATAGTTTCTGTAATTGGCTTTTGAATCAAAGAATAGGGAGACAATCTAAAAAATATCTTAGGTTGGAGATGACAGAAATATGATTGATTTGAAGTGGAAAAAGAAATTCTGTTAATGTTAATTAAAGTAAAATTATTCCCTGAATTGTTTGATATTGTCACCTAGCAGATATGTATTACTTTTCTGCAATGTTATTATTGGCTTGCACTTTGTGAGTATTCTATGTAAAAATATATATGTATATAAAATATATATTGCATAGGACAGACTTAGGAGTTTTGTTTAGAGCAGTTAACATCTGAAGTGTCTAATGCATTAACTTTTGTAAGGTACTGAATACTTAATATGTGGGAAACCCTTTTGCGTGGTCCTTAGGCTTACAATGTGCACTGAATCGTTTCATGTAAGAATCCAAAGTGGACACCATTAACAGGTCTTTGAAATATGCATGTACTTTATATTTTCTATATTTGTAACTTTGCATGTTCTTGTTTTGTTATATAAAAAAATTGTAAATGTTTAATATCTGACTGAAATTAAACGA
Task1_train_27681
The gene PRNP (prion protein (Kanno blood group)) is located on Chromosome 20, where a mutation has occurred. What is the medical relevance of this mutation?
Pathogenic; Inherited Creutzfeldt-Jakob disease
TAGGTAGAGTGATGGGAACAGCCCCACTGAGCAAACTTTAGCCACATGAGTAGCTGGAAGAAAAGCCTTCTAGGACCAGGGAACAGCAAGTGCAACAGCCCTGAGACAGGATGGGCTTGTCAGTTTGAGGAGCAGTGGGAGGCCTGAACCAGGTTACATGGGGCCCAGCCAGTATGGCCACGACTTTGTGTTTTATCCAGAGTACAAAGGAGCCTCACTGAGGGACAAGGGAAGTGGCATGATGTGACCCGCATATTAAGAGGAGAGCGCTCAATGGCAGCCAGGGGAGGAGCAGGGAGGCTGGTTGGGAGGCTGTTGAAGAAATCAGGTGAGAAGTGATGGAAGCACCGAATAAGATGGTCATGTTGGAAAAATTGAGAAGCTGAGGTGCTTAGCATTGATTTTCAAGGTAGAGCTACTGAGATTTGCTGATAGATCCAATGTATGCTGGGAGAGAAAATTCAGTCACTCTAGAGCATTGGCTGGATTTGTCACCCATTGCAGCGAATGGAGAAGGTGCTGACATAAAAGCCCTTTAGACTGAAAGCTACTGACTGAGGGGATGGTGCCCTAGTTTGATTTCCTGGGGTGTATGAGTAGCAGGGAGGCCAAGAGCTGGGCCTCACGAGATTGTGGGGACTACATCAGGGAAGCAGGCCTGCAAAGAACCTGCACCACAGACCCCCACCTAAAAGAGCCTCCAAAAACCCTAACTGGCATGACCTGAGTACTTTAACTCTGCTTGTAACTTTCAAATATATTTTGATTTGCTTATGACCACCAAGGCAAAACTTCCCATTTCAATAATGTTAGTAGAAACATAAACAGGATGTTAATTTATTTATTTGGTAATTCTTTTTATGAATATTATCCAGTTTAATCATTAGCTCTGAAGGAGATGAAAAATAATTTTCTAATTTTTAGAAAAATTTGCAGCTAATTGGGTGATAAAGGTAAGGGGTTTCTGAGTTCACAAAAATGTTCTAAAATTGGCAACAGTTTCGGTTGCACGTTTCATTAAATGTACTAAAAACCATTGAACTGTACATGGTATATGGTGAATTATATGGTATGTGAATTATATCTCAACAAGCTGGGTATTGTTTTTTTAAAAAATAAAAATAAAAAAGGAGAAAGAGAGAGAGAAAAACAATTGCAGATCATCCCAGCACTGAGGACAAGACTAACTTCAGTGTTCCAGTATATGCCATTATAGGTTTTACGGCACACAGTGATGATTTGGAGCCTATGATTTGACCTAGGGTACAGCAGGTACTGTTTAGCAATCATTTTACTATTGTCATAGGTCTCTGCTCTTGGAGCTAAGTGCCCAGGGTAAATGAGATCTTTAATTTGAAAAGAGATTTTTGATTTGATGAATGTACATTCTCCAAAGGGTCATAAATTGTCATTCTGGATGTTTGATCTGTTTGTTGTTTTGGTACAAAAATTAGAAGAAAATAATTCACTCATAAAATGTTAAATAATGAACTAAAAGTCATTCATCAAGTCCATAACTTAGGGTCACATTTGTCCTTGGAGCAGGAGAAAGAGTTGTGTTCACCCTTTTCTTACTTTTGCTTTTGTCCTAAGTGCTTCAGAGAAGTACAGGGTGGCAACAGTGTTTCTACTGAGCAGCTGATACCATTGCTATGCACTCATTCATTATGCAGGAAACATTTAGTAATTTCAACATAAATATGGGACTCTGACGTTCTCCTCTTCATTTTGCAGAGCAGTCATTATGGCGAACCTTGGCTGCTGGATGCTGGTTCTCTTTGTGGCCACATGGAGTGACCTGGGCCTCTGCAAGAAGCGCCCGAAGCCTGGAGGATGGAACACTGGGGGCAGCCGATACCCGGGGCAGGGCAGCCCTGGAGGCAACCGCTACCCACCTCAGGGCGGTGGTGGCTGGGGGCAGCCTCATGGTGGTGGCTGGGGGCAGCCTCATGGTGGTGGCTGGGGGCAGCCCCATGGTGGTGGCTGGGGACAGCCTCATGGTGGTGGCTGGGGTCAAGGAGGTGGCACCCACAGTCAGTGGAACAAGCCGAGTAAGCCAAAAACCAACATGAAGCACATGGCTGGTGCTGCAGCAGCTGGGGCAGTGGTGGGGGGCCTTGGCGGCTACATGCTGGGAAGTGCCATGAGCAGGCCCATCATACATTTCGGCAGTGACTATGAGGACCGTTACTATCGTGAAAACATGCACCGTTACCCCAACCAAGTGTACTACAGGCCCATGGATGAGTACAGCAACCAGAACAACTTTGTGCACGACTGCGTCAATATCACAATCAAGCAGCACACGGTCACCACAACCACCAAGGGGGAGAACTTCACCGAGACCGACGTTAAGATGATGGAGCGCGTGGTTGAGCAGATGTGTATCACCCAGTACGAGAGGGAATCTCAGGCCTATTACCAGAGAGGATCGAGCATGGTCCTCTTCTCCTCTCCACCTGTGATCCTCCTGATCTCTTTCCTCATCTTCCTGATAGTGGGATGAGGAAGGTCTTCCTGTTTTCACCATCTTTCTAATCTTTTTCCAGCTTGAGGGAGGCGGTATCCACCTGCAGCCCTTTTAGTGGTGGTGTCTCACTCTTTCTTCTCTCTTTGTCCCGGATAGGCTAATCAATACCCTTGGCACTGATGGGCACTGGAAAACATAGAGTAGACCTGAGATGCTGGTCAAGCCCCCTTTGATTGAGTTCATCATGAGCCGTTGCTAATGCCAGGCCAGTAAAAGTATAACAGCAAATAACCATTGGTTAATCTGGACTTATTTTTGGACTTAGTGCAACAGGTTGAGGCTAAAACAAATCTCAGAACAGTCTGAAATACCTTTGCCTGGATACCTCTGGCTCCTTCAGCAGCTAGAGCTCAGTATACTAATGCCCTATCTTAGTAGAGATTTCATAGCTATTTAGAGATATTTTCCATTTTAAGAAAACCCGACAACATTTCTGCCAGGTTTGTTAGGAGGCCACATGATACTTATTCAAAAAAATCCTAGAGATTCTTAGCTCTTGGGATGCAGGCTCAGCCCGCTGGAGCATGAGCTCTGTGTGTACCGAGAACTGGGGTGATGTTTTACTTTTCACAGTATGGGCTACACAGCAGCTGTTCAACAAGAGTAAATATTGTCACAACACTGAACCTCTGGCTAGAGGACATATTCACAGTGAACATAACTGTAACATATATGAAAGGCTTCTGGGACTTGAAATCAAATGTTTGGGAATGGTGCCCTTGGAGGCAACCTCCCATTTTAGATGTTTAAAGGACCCTATATGTGGCATTCCTTTCTTTAAACTATAGGTAATTAAGGCAGCTGAAAAGTAAATTGCCTTCTAGACACTGAAGGCAAATCTCCTTTGTCCATTTACCTGGAAACCAGAATGATTTTGACATACAGGAGAGCTGCAGTTGTGAAAGCACCATCATCATAGAGGATGATGTAATTAAAAAATGGTCAGTGTGCAAAGAAAAGAACTGCTTGCATTTCTTTATTTCTGTCTCATAATTGTCAAAAACCAGAATTAGGTCAAGTTCATAGTTTCTGTAATTGGCTTTTGAATCAAAGAATAGGGAGACAATCTAAAAAATATCTTAGGTTGGAGATGACAGAAATATGATTGATTTGAAGTGGAAAAAGAAATTCTGTTAATGTTAATTAAAGTAAAATTATTCCCTGAATTGTTTGATATTGTCACCTAGCAGATATGTATTACTTTTCTGCAATGTTATTATTGGCTTGCACTTTGTGAGTATTCTATGTAAAAATATATATGTATATAAAATATATATTGCATAGGACAGACTTAGGAGTTTTGTTTAGAGCAGTTAACATCTGAAGTGTCTAATGCATTAACTTTTGTAAGGTACTGAATACTTAATATGTGGGAAACCCTTTTGCGTGGTCCTTAGGCTTACAATGTGCACTGAATCGTTTCATGTAAGAATCCAAAGTGGACACCATTAACAGGTCTTTGAAATATGCATGTACTTTATATTTTCTATATTTGTAACTTTGCATGTTCTTGTTTTGTTATATAAAAAAATTGTAAATGTTTAATATCTGACTGAAATTAAACGA
TAGGTAGAGTGATGGGAACAGCCCCACTGAGCAAACTTTAGCCACATGAGTAGCTGGAAGAAAAGCCTTCTAGGACCAGGGAACAGCAAGTGCAACAGCCCTGAGACAGGATGGGCTTGTCAGTTTGAGGAGCAGTGGGAGGCCTGAACCAGGTTACATGGGGCCCAGCCAGTATGGCCACGACTTTGTGTTTTATCCAGAGTACAAAGGAGCCTCACTGAGGGACAAGGGAAGTGGCATGATGTGACCCGCATATTAAGAGGAGAGCGCTCAATGGCAGCCAGGGGAGGAGCAGGGAGGCTGGTTGGGAGGCTGTTGAAGAAATCAGGTGAGAAGTGATGGAAGCACCGAATAAGATGGTCATGTTGGAAAAATTGAGAAGCTGAGGTGCTTAGCATTGATTTTCAAGGTAGAGCTACTGAGATTTGCTGATAGATCCAATGTATGCTGGGAGAGAAAATTCAGTCACTCTAGAGCATTGGCTGGATTTGTCACCCATTGCAGCGAATGGAGAAGGTGCTGACATAAAAGCCCTTTAGACTGAAAGCTACTGACTGAGGGGATGGTGCCCTAGTTTGATTTCCTGGGGTGTATGAGTAGCAGGGAGGCCAAGAGCTGGGCCTCACGAGATTGTGGGGACTACATCAGGGAAGCAGGCCTGCAAAGAACCTGCACCACAGACCCCCACCTAAAAGAGCCTCCAAAAACCCTAACTGGCATGACCTGAGTACTTTAACTCTGCTTGTAACTTTCAAATATATTTTGATTTGCTTATGACCACCAAGGCAAAACTTCCCATTTCAATAATGTTAGTAGAAACATAAACAGGATGTTAATTTATTTATTTGGTAATTCTTTTTATGAATATTATCCAGTTTAATCATTAGCTCTGAAGGAGATGAAAAATAATTTTCTAATTTTTAGAAAAATTTGCAGCTAATTGGGTGATAAAGGTAAGGGGTTTCTGAGTTCACAAAAATGTTCTAAAATTGGCAACAGTTTCGGTTGCACGTTTCATTAAATGTACTAAAAACCATTGAACTGTACATGGTATATGGTGAATTATATGGTATGTGAATTATATCTCAACAAGCTGGGTATTGTTTTTTTAAAAAATAAAAATAAAAAAGGAGAAAGAGAGAGAGAAAAACAATTGCAGATCATCCCAGCACTGAGGACAAGACTAACTTCAGTGTTCCAGTATATGCCATTATAGGTTTTACGGCACACAGTGATGATTTGGAGCCTATGATTTGACCTAGGGTACAGCAGGTACTGTTTAGCAATCATTTTACTATTGTCATAGGTCTCTGCTCTTGGAGCTAAGTGCCCAGGGTAAATGAGATCTTTAATTTGAAAAGAGATTTTTGATTTGATGAATGTACATTCTCCAAAGGGTCATAAATTGTCATTCTGGATGTTTGATCTGTTTGTTGTTTTGGTACAAAAATTAGAAGAAAATAATTCACTCATAAAATGTTAAATAATGAACTAAAAGTCATTCATCAAGTCCATAACTTAGGGTCACATTTGTCCTTGGAGCAGGAGAAAGAGTTGTGTTCACCCTTTTCTTACTTTTGCTTTTGTCCTAAGTGCTTCAGAGAAGTACAGGGTGGCAACAGTGTTTCTACTGAGCAGCTGATACCATTGCTATGCACTCATTCATTATGCAGGAAACATTTAGTAATTTCAACATAAATATGGGACTCTGACGTTCTCCTCTTCATTTTGCAGAGCAGTCATTATGGCGAACCTTGGCTGCTGGATGCTGGTTCTCTTTGTGGCCACATGGAGTGACCTGGGCCTCTGCAAGAAGCGCCCGAAGCCTGGAGGATGGAACACTGGGGGCAGCCGATACCCGGGGCAGGGCAGCCCTGGAGGCAACCGCTACCCACCTCAGGGCGGTGGTGGCTGGGGGCAGCCTCATGGTGGTGGCTGGGGGCAGCCTCATGGTGGTGGCTGGGGGCAGCCCCATGGTGGTGGCTGGGGACAGCCTCATGGTGGTGGCTGGGGTCAAGGAGGTGGCACCCACAGTCAGTGGAACAAGCTGAGTAAGCCAAAAACCAACATGAAGCACATGGCTGGTGCTGCAGCAGCTGGGGCAGTGGTGGGGGGCCTTGGCGGCTACATGCTGGGAAGTGCCATGAGCAGGCCCATCATACATTTCGGCAGTGACTATGAGGACCGTTACTATCGTGAAAACATGCACCGTTACCCCAACCAAGTGTACTACAGGCCCATGGATGAGTACAGCAACCAGAACAACTTTGTGCACGACTGCGTCAATATCACAATCAAGCAGCACACGGTCACCACAACCACCAAGGGGGAGAACTTCACCGAGACCGACGTTAAGATGATGGAGCGCGTGGTTGAGCAGATGTGTATCACCCAGTACGAGAGGGAATCTCAGGCCTATTACCAGAGAGGATCGAGCATGGTCCTCTTCTCCTCTCCACCTGTGATCCTCCTGATCTCTTTCCTCATCTTCCTGATAGTGGGATGAGGAAGGTCTTCCTGTTTTCACCATCTTTCTAATCTTTTTCCAGCTTGAGGGAGGCGGTATCCACCTGCAGCCCTTTTAGTGGTGGTGTCTCACTCTTTCTTCTCTCTTTGTCCCGGATAGGCTAATCAATACCCTTGGCACTGATGGGCACTGGAAAACATAGAGTAGACCTGAGATGCTGGTCAAGCCCCCTTTGATTGAGTTCATCATGAGCCGTTGCTAATGCCAGGCCAGTAAAAGTATAACAGCAAATAACCATTGGTTAATCTGGACTTATTTTTGGACTTAGTGCAACAGGTTGAGGCTAAAACAAATCTCAGAACAGTCTGAAATACCTTTGCCTGGATACCTCTGGCTCCTTCAGCAGCTAGAGCTCAGTATACTAATGCCCTATCTTAGTAGAGATTTCATAGCTATTTAGAGATATTTTCCATTTTAAGAAAACCCGACAACATTTCTGCCAGGTTTGTTAGGAGGCCACATGATACTTATTCAAAAAAATCCTAGAGATTCTTAGCTCTTGGGATGCAGGCTCAGCCCGCTGGAGCATGAGCTCTGTGTGTACCGAGAACTGGGGTGATGTTTTACTTTTCACAGTATGGGCTACACAGCAGCTGTTCAACAAGAGTAAATATTGTCACAACACTGAACCTCTGGCTAGAGGACATATTCACAGTGAACATAACTGTAACATATATGAAAGGCTTCTGGGACTTGAAATCAAATGTTTGGGAATGGTGCCCTTGGAGGCAACCTCCCATTTTAGATGTTTAAAGGACCCTATATGTGGCATTCCTTTCTTTAAACTATAGGTAATTAAGGCAGCTGAAAAGTAAATTGCCTTCTAGACACTGAAGGCAAATCTCCTTTGTCCATTTACCTGGAAACCAGAATGATTTTGACATACAGGAGAGCTGCAGTTGTGAAAGCACCATCATCATAGAGGATGATGTAATTAAAAAATGGTCAGTGTGCAAAGAAAAGAACTGCTTGCATTTCTTTATTTCTGTCTCATAATTGTCAAAAACCAGAATTAGGTCAAGTTCATAGTTTCTGTAATTGGCTTTTGAATCAAAGAATAGGGAGACAATCTAAAAAATATCTTAGGTTGGAGATGACAGAAATATGATTGATTTGAAGTGGAAAAAGAAATTCTGTTAATGTTAATTAAAGTAAAATTATTCCCTGAATTGTTTGATATTGTCACCTAGCAGATATGTATTACTTTTCTGCAATGTTATTATTGGCTTGCACTTTGTGAGTATTCTATGTAAAAATATATATGTATATAAAATATATATTGCATAGGACAGACTTAGGAGTTTTGTTTAGAGCAGTTAACATCTGAAGTGTCTAATGCATTAACTTTTGTAAGGTACTGAATACTTAATATGTGGGAAACCCTTTTGCGTGGTCCTTAGGCTTACAATGTGCACTGAATCGTTTCATGTAAGAATCCAAAGTGGACACCATTAACAGGTCTTTGAAATATGCATGTACTTTATATTTTCTATATTTGTAACTTTGCATGTTCTTGTTTTGTTATATAAAAAAATTGTAAATGTTTAATATCTGACTGAAATTAAACGA
Task1_train_27682
Given a variant located on Chromosome 20 and affecting PRNP (prion protein (Kanno blood group)), assess whether it is benign or pathogenic. Indicate the associated disease if pathogenic.
Pathogenic; Spongiform encephalopathy with neuropsychiatric features
GTGATGGGAACAGCCCCACTGAGCAAACTTTAGCCACATGAGTAGCTGGAAGAAAAGCCTTCTAGGACCAGGGAACAGCAAGTGCAACAGCCCTGAGACAGGATGGGCTTGTCAGTTTGAGGAGCAGTGGGAGGCCTGAACCAGGTTACATGGGGCCCAGCCAGTATGGCCACGACTTTGTGTTTTATCCAGAGTACAAAGGAGCCTCACTGAGGGACAAGGGAAGTGGCATGATGTGACCCGCATATTAAGAGGAGAGCGCTCAATGGCAGCCAGGGGAGGAGCAGGGAGGCTGGTTGGGAGGCTGTTGAAGAAATCAGGTGAGAAGTGATGGAAGCACCGAATAAGATGGTCATGTTGGAAAAATTGAGAAGCTGAGGTGCTTAGCATTGATTTTCAAGGTAGAGCTACTGAGATTTGCTGATAGATCCAATGTATGCTGGGAGAGAAAATTCAGTCACTCTAGAGCATTGGCTGGATTTGTCACCCATTGCAGCGAATGGAGAAGGTGCTGACATAAAAGCCCTTTAGACTGAAAGCTACTGACTGAGGGGATGGTGCCCTAGTTTGATTTCCTGGGGTGTATGAGTAGCAGGGAGGCCAAGAGCTGGGCCTCACGAGATTGTGGGGACTACATCAGGGAAGCAGGCCTGCAAAGAACCTGCACCACAGACCCCCACCTAAAAGAGCCTCCAAAAACCCTAACTGGCATGACCTGAGTACTTTAACTCTGCTTGTAACTTTCAAATATATTTTGATTTGCTTATGACCACCAAGGCAAAACTTCCCATTTCAATAATGTTAGTAGAAACATAAACAGGATGTTAATTTATTTATTTGGTAATTCTTTTTATGAATATTATCCAGTTTAATCATTAGCTCTGAAGGAGATGAAAAATAATTTTCTAATTTTTAGAAAAATTTGCAGCTAATTGGGTGATAAAGGTAAGGGGTTTCTGAGTTCACAAAAATGTTCTAAAATTGGCAACAGTTTCGGTTGCACGTTTCATTAAATGTACTAAAAACCATTGAACTGTACATGGTATATGGTGAATTATATGGTATGTGAATTATATCTCAACAAGCTGGGTATTGTTTTTTTAAAAAATAAAAATAAAAAAGGAGAAAGAGAGAGAGAAAAACAATTGCAGATCATCCCAGCACTGAGGACAAGACTAACTTCAGTGTTCCAGTATATGCCATTATAGGTTTTACGGCACACAGTGATGATTTGGAGCCTATGATTTGACCTAGGGTACAGCAGGTACTGTTTAGCAATCATTTTACTATTGTCATAGGTCTCTGCTCTTGGAGCTAAGTGCCCAGGGTAAATGAGATCTTTAATTTGAAAAGAGATTTTTGATTTGATGAATGTACATTCTCCAAAGGGTCATAAATTGTCATTCTGGATGTTTGATCTGTTTGTTGTTTTGGTACAAAAATTAGAAGAAAATAATTCACTCATAAAATGTTAAATAATGAACTAAAAGTCATTCATCAAGTCCATAACTTAGGGTCACATTTGTCCTTGGAGCAGGAGAAAGAGTTGTGTTCACCCTTTTCTTACTTTTGCTTTTGTCCTAAGTGCTTCAGAGAAGTACAGGGTGGCAACAGTGTTTCTACTGAGCAGCTGATACCATTGCTATGCACTCATTCATTATGCAGGAAACATTTAGTAATTTCAACATAAATATGGGACTCTGACGTTCTCCTCTTCATTTTGCAGAGCAGTCATTATGGCGAACCTTGGCTGCTGGATGCTGGTTCTCTTTGTGGCCACATGGAGTGACCTGGGCCTCTGCAAGAAGCGCCCGAAGCCTGGAGGATGGAACACTGGGGGCAGCCGATACCCGGGGCAGGGCAGCCCTGGAGGCAACCGCTACCCACCTCAGGGCGGTGGTGGCTGGGGGCAGCCTCATGGTGGTGGCTGGGGGCAGCCTCATGGTGGTGGCTGGGGGCAGCCCCATGGTGGTGGCTGGGGACAGCCTCATGGTGGTGGCTGGGGTCAAGGAGGTGGCACCCACAGTCAGTGGAACAAGCCGAGTAAGCCAAAAACCAACATGAAGCACATGGCTGGTGCTGCAGCAGCTGGGGCAGTGGTGGGGGGCCTTGGCGGCTACATGCTGGGAAGTGCCATGAGCAGGCCCATCATACATTTCGGCAGTGACTATGAGGACCGTTACTATCGTGAAAACATGCACCGTTACCCCAACCAAGTGTACTACAGGCCCATGGATGAGTACAGCAACCAGAACAACTTTGTGCACGACTGCGTCAATATCACAATCAAGCAGCACACGGTCACCACAACCACCAAGGGGGAGAACTTCACCGAGACCGACGTTAAGATGATGGAGCGCGTGGTTGAGCAGATGTGTATCACCCAGTACGAGAGGGAATCTCAGGCCTATTACCAGAGAGGATCGAGCATGGTCCTCTTCTCCTCTCCACCTGTGATCCTCCTGATCTCTTTCCTCATCTTCCTGATAGTGGGATGAGGAAGGTCTTCCTGTTTTCACCATCTTTCTAATCTTTTTCCAGCTTGAGGGAGGCGGTATCCACCTGCAGCCCTTTTAGTGGTGGTGTCTCACTCTTTCTTCTCTCTTTGTCCCGGATAGGCTAATCAATACCCTTGGCACTGATGGGCACTGGAAAACATAGAGTAGACCTGAGATGCTGGTCAAGCCCCCTTTGATTGAGTTCATCATGAGCCGTTGCTAATGCCAGGCCAGTAAAAGTATAACAGCAAATAACCATTGGTTAATCTGGACTTATTTTTGGACTTAGTGCAACAGGTTGAGGCTAAAACAAATCTCAGAACAGTCTGAAATACCTTTGCCTGGATACCTCTGGCTCCTTCAGCAGCTAGAGCTCAGTATACTAATGCCCTATCTTAGTAGAGATTTCATAGCTATTTAGAGATATTTTCCATTTTAAGAAAACCCGACAACATTTCTGCCAGGTTTGTTAGGAGGCCACATGATACTTATTCAAAAAAATCCTAGAGATTCTTAGCTCTTGGGATGCAGGCTCAGCCCGCTGGAGCATGAGCTCTGTGTGTACCGAGAACTGGGGTGATGTTTTACTTTTCACAGTATGGGCTACACAGCAGCTGTTCAACAAGAGTAAATATTGTCACAACACTGAACCTCTGGCTAGAGGACATATTCACAGTGAACATAACTGTAACATATATGAAAGGCTTCTGGGACTTGAAATCAAATGTTTGGGAATGGTGCCCTTGGAGGCAACCTCCCATTTTAGATGTTTAAAGGACCCTATATGTGGCATTCCTTTCTTTAAACTATAGGTAATTAAGGCAGCTGAAAAGTAAATTGCCTTCTAGACACTGAAGGCAAATCTCCTTTGTCCATTTACCTGGAAACCAGAATGATTTTGACATACAGGAGAGCTGCAGTTGTGAAAGCACCATCATCATAGAGGATGATGTAATTAAAAAATGGTCAGTGTGCAAAGAAAAGAACTGCTTGCATTTCTTTATTTCTGTCTCATAATTGTCAAAAACCAGAATTAGGTCAAGTTCATAGTTTCTGTAATTGGCTTTTGAATCAAAGAATAGGGAGACAATCTAAAAAATATCTTAGGTTGGAGATGACAGAAATATGATTGATTTGAAGTGGAAAAAGAAATTCTGTTAATGTTAATTAAAGTAAAATTATTCCCTGAATTGTTTGATATTGTCACCTAGCAGATATGTATTACTTTTCTGCAATGTTATTATTGGCTTGCACTTTGTGAGTATTCTATGTAAAAATATATATGTATATAAAATATATATTGCATAGGACAGACTTAGGAGTTTTGTTTAGAGCAGTTAACATCTGAAGTGTCTAATGCATTAACTTTTGTAAGGTACTGAATACTTAATATGTGGGAAACCCTTTTGCGTGGTCCTTAGGCTTACAATGTGCACTGAATCGTTTCATGTAAGAATCCAAAGTGGACACCATTAACAGGTCTTTGAAATATGCATGTACTTTATATTTTCTATATTTGTAACTTTGCATGTTCTTGTTTTGTTATATAAAAAAATTGTAAATGTTTAATATCTGACTGAAATTAAACGAGCGAAGAT
GTGATGGGAACAGCCCCACTGAGCAAACTTTAGCCACATGAGTAGCTGGAAGAAAAGCCTTCTAGGACCAGGGAACAGCAAGTGCAACAGCCCTGAGACAGGATGGGCTTGTCAGTTTGAGGAGCAGTGGGAGGCCTGAACCAGGTTACATGGGGCCCAGCCAGTATGGCCACGACTTTGTGTTTTATCCAGAGTACAAAGGAGCCTCACTGAGGGACAAGGGAAGTGGCATGATGTGACCCGCATATTAAGAGGAGAGCGCTCAATGGCAGCCAGGGGAGGAGCAGGGAGGCTGGTTGGGAGGCTGTTGAAGAAATCAGGTGAGAAGTGATGGAAGCACCGAATAAGATGGTCATGTTGGAAAAATTGAGAAGCTGAGGTGCTTAGCATTGATTTTCAAGGTAGAGCTACTGAGATTTGCTGATAGATCCAATGTATGCTGGGAGAGAAAATTCAGTCACTCTAGAGCATTGGCTGGATTTGTCACCCATTGCAGCGAATGGAGAAGGTGCTGACATAAAAGCCCTTTAGACTGAAAGCTACTGACTGAGGGGATGGTGCCCTAGTTTGATTTCCTGGGGTGTATGAGTAGCAGGGAGGCCAAGAGCTGGGCCTCACGAGATTGTGGGGACTACATCAGGGAAGCAGGCCTGCAAAGAACCTGCACCACAGACCCCCACCTAAAAGAGCCTCCAAAAACCCTAACTGGCATGACCTGAGTACTTTAACTCTGCTTGTAACTTTCAAATATATTTTGATTTGCTTATGACCACCAAGGCAAAACTTCCCATTTCAATAATGTTAGTAGAAACATAAACAGGATGTTAATTTATTTATTTGGTAATTCTTTTTATGAATATTATCCAGTTTAATCATTAGCTCTGAAGGAGATGAAAAATAATTTTCTAATTTTTAGAAAAATTTGCAGCTAATTGGGTGATAAAGGTAAGGGGTTTCTGAGTTCACAAAAATGTTCTAAAATTGGCAACAGTTTCGGTTGCACGTTTCATTAAATGTACTAAAAACCATTGAACTGTACATGGTATATGGTGAATTATATGGTATGTGAATTATATCTCAACAAGCTGGGTATTGTTTTTTTAAAAAATAAAAATAAAAAAGGAGAAAGAGAGAGAGAAAAACAATTGCAGATCATCCCAGCACTGAGGACAAGACTAACTTCAGTGTTCCAGTATATGCCATTATAGGTTTTACGGCACACAGTGATGATTTGGAGCCTATGATTTGACCTAGGGTACAGCAGGTACTGTTTAGCAATCATTTTACTATTGTCATAGGTCTCTGCTCTTGGAGCTAAGTGCCCAGGGTAAATGAGATCTTTAATTTGAAAAGAGATTTTTGATTTGATGAATGTACATTCTCCAAAGGGTCATAAATTGTCATTCTGGATGTTTGATCTGTTTGTTGTTTTGGTACAAAAATTAGAAGAAAATAATTCACTCATAAAATGTTAAATAATGAACTAAAAGTCATTCATCAAGTCCATAACTTAGGGTCACATTTGTCCTTGGAGCAGGAGAAAGAGTTGTGTTCACCCTTTTCTTACTTTTGCTTTTGTCCTAAGTGCTTCAGAGAAGTACAGGGTGGCAACAGTGTTTCTACTGAGCAGCTGATACCATTGCTATGCACTCATTCATTATGCAGGAAACATTTAGTAATTTCAACATAAATATGGGACTCTGACGTTCTCCTCTTCATTTTGCAGAGCAGTCATTATGGCGAACCTTGGCTGCTGGATGCTGGTTCTCTTTGTGGCCACATGGAGTGACCTGGGCCTCTGCAAGAAGCGCCCGAAGCCTGGAGGATGGAACACTGGGGGCAGCCGATACCCGGGGCAGGGCAGCCCTGGAGGCAACCGCTACCCACCTCAGGGCGGTGGTGGCTGGGGGCAGCCTCATGGTGGTGGCTGGGGGCAGCCTCATGGTGGTGGCTGGGGGCAGCCCCATGGTGGTGGCTGGGGACAGCCTCATGGTGGTGGCTGGGGTCAAGGAGGTGGCACCCACAGTCAGTGGAACAAGCCGAGTAAGACAAAAACCAACATGAAGCACATGGCTGGTGCTGCAGCAGCTGGGGCAGTGGTGGGGGGCCTTGGCGGCTACATGCTGGGAAGTGCCATGAGCAGGCCCATCATACATTTCGGCAGTGACTATGAGGACCGTTACTATCGTGAAAACATGCACCGTTACCCCAACCAAGTGTACTACAGGCCCATGGATGAGTACAGCAACCAGAACAACTTTGTGCACGACTGCGTCAATATCACAATCAAGCAGCACACGGTCACCACAACCACCAAGGGGGAGAACTTCACCGAGACCGACGTTAAGATGATGGAGCGCGTGGTTGAGCAGATGTGTATCACCCAGTACGAGAGGGAATCTCAGGCCTATTACCAGAGAGGATCGAGCATGGTCCTCTTCTCCTCTCCACCTGTGATCCTCCTGATCTCTTTCCTCATCTTCCTGATAGTGGGATGAGGAAGGTCTTCCTGTTTTCACCATCTTTCTAATCTTTTTCCAGCTTGAGGGAGGCGGTATCCACCTGCAGCCCTTTTAGTGGTGGTGTCTCACTCTTTCTTCTCTCTTTGTCCCGGATAGGCTAATCAATACCCTTGGCACTGATGGGCACTGGAAAACATAGAGTAGACCTGAGATGCTGGTCAAGCCCCCTTTGATTGAGTTCATCATGAGCCGTTGCTAATGCCAGGCCAGTAAAAGTATAACAGCAAATAACCATTGGTTAATCTGGACTTATTTTTGGACTTAGTGCAACAGGTTGAGGCTAAAACAAATCTCAGAACAGTCTGAAATACCTTTGCCTGGATACCTCTGGCTCCTTCAGCAGCTAGAGCTCAGTATACTAATGCCCTATCTTAGTAGAGATTTCATAGCTATTTAGAGATATTTTCCATTTTAAGAAAACCCGACAACATTTCTGCCAGGTTTGTTAGGAGGCCACATGATACTTATTCAAAAAAATCCTAGAGATTCTTAGCTCTTGGGATGCAGGCTCAGCCCGCTGGAGCATGAGCTCTGTGTGTACCGAGAACTGGGGTGATGTTTTACTTTTCACAGTATGGGCTACACAGCAGCTGTTCAACAAGAGTAAATATTGTCACAACACTGAACCTCTGGCTAGAGGACATATTCACAGTGAACATAACTGTAACATATATGAAAGGCTTCTGGGACTTGAAATCAAATGTTTGGGAATGGTGCCCTTGGAGGCAACCTCCCATTTTAGATGTTTAAAGGACCCTATATGTGGCATTCCTTTCTTTAAACTATAGGTAATTAAGGCAGCTGAAAAGTAAATTGCCTTCTAGACACTGAAGGCAAATCTCCTTTGTCCATTTACCTGGAAACCAGAATGATTTTGACATACAGGAGAGCTGCAGTTGTGAAAGCACCATCATCATAGAGGATGATGTAATTAAAAAATGGTCAGTGTGCAAAGAAAAGAACTGCTTGCATTTCTTTATTTCTGTCTCATAATTGTCAAAAACCAGAATTAGGTCAAGTTCATAGTTTCTGTAATTGGCTTTTGAATCAAAGAATAGGGAGACAATCTAAAAAATATCTTAGGTTGGAGATGACAGAAATATGATTGATTTGAAGTGGAAAAAGAAATTCTGTTAATGTTAATTAAAGTAAAATTATTCCCTGAATTGTTTGATATTGTCACCTAGCAGATATGTATTACTTTTCTGCAATGTTATTATTGGCTTGCACTTTGTGAGTATTCTATGTAAAAATATATATGTATATAAAATATATATTGCATAGGACAGACTTAGGAGTTTTGTTTAGAGCAGTTAACATCTGAAGTGTCTAATGCATTAACTTTTGTAAGGTACTGAATACTTAATATGTGGGAAACCCTTTTGCGTGGTCCTTAGGCTTACAATGTGCACTGAATCGTTTCATGTAAGAATCCAAAGTGGACACCATTAACAGGTCTTTGAAATATGCATGTACTTTATATTTTCTATATTTGTAACTTTGCATGTTCTTGTTTTGTTATATAAAAAAATTGTAAATGTTTAATATCTGACTGAAATTAAACGAGCGAAGAT
Task1_train_27683
A variant was discovered in gene PRNP (prion protein (Kanno blood group)), Chromosome 20. Please indicate if this mutation results in a known disease or if it's non-harmful.
Pathogenic; not provided
GTGATGGGAACAGCCCCACTGAGCAAACTTTAGCCACATGAGTAGCTGGAAGAAAAGCCTTCTAGGACCAGGGAACAGCAAGTGCAACAGCCCTGAGACAGGATGGGCTTGTCAGTTTGAGGAGCAGTGGGAGGCCTGAACCAGGTTACATGGGGCCCAGCCAGTATGGCCACGACTTTGTGTTTTATCCAGAGTACAAAGGAGCCTCACTGAGGGACAAGGGAAGTGGCATGATGTGACCCGCATATTAAGAGGAGAGCGCTCAATGGCAGCCAGGGGAGGAGCAGGGAGGCTGGTTGGGAGGCTGTTGAAGAAATCAGGTGAGAAGTGATGGAAGCACCGAATAAGATGGTCATGTTGGAAAAATTGAGAAGCTGAGGTGCTTAGCATTGATTTTCAAGGTAGAGCTACTGAGATTTGCTGATAGATCCAATGTATGCTGGGAGAGAAAATTCAGTCACTCTAGAGCATTGGCTGGATTTGTCACCCATTGCAGCGAATGGAGAAGGTGCTGACATAAAAGCCCTTTAGACTGAAAGCTACTGACTGAGGGGATGGTGCCCTAGTTTGATTTCCTGGGGTGTATGAGTAGCAGGGAGGCCAAGAGCTGGGCCTCACGAGATTGTGGGGACTACATCAGGGAAGCAGGCCTGCAAAGAACCTGCACCACAGACCCCCACCTAAAAGAGCCTCCAAAAACCCTAACTGGCATGACCTGAGTACTTTAACTCTGCTTGTAACTTTCAAATATATTTTGATTTGCTTATGACCACCAAGGCAAAACTTCCCATTTCAATAATGTTAGTAGAAACATAAACAGGATGTTAATTTATTTATTTGGTAATTCTTTTTATGAATATTATCCAGTTTAATCATTAGCTCTGAAGGAGATGAAAAATAATTTTCTAATTTTTAGAAAAATTTGCAGCTAATTGGGTGATAAAGGTAAGGGGTTTCTGAGTTCACAAAAATGTTCTAAAATTGGCAACAGTTTCGGTTGCACGTTTCATTAAATGTACTAAAAACCATTGAACTGTACATGGTATATGGTGAATTATATGGTATGTGAATTATATCTCAACAAGCTGGGTATTGTTTTTTTAAAAAATAAAAATAAAAAAGGAGAAAGAGAGAGAGAAAAACAATTGCAGATCATCCCAGCACTGAGGACAAGACTAACTTCAGTGTTCCAGTATATGCCATTATAGGTTTTACGGCACACAGTGATGATTTGGAGCCTATGATTTGACCTAGGGTACAGCAGGTACTGTTTAGCAATCATTTTACTATTGTCATAGGTCTCTGCTCTTGGAGCTAAGTGCCCAGGGTAAATGAGATCTTTAATTTGAAAAGAGATTTTTGATTTGATGAATGTACATTCTCCAAAGGGTCATAAATTGTCATTCTGGATGTTTGATCTGTTTGTTGTTTTGGTACAAAAATTAGAAGAAAATAATTCACTCATAAAATGTTAAATAATGAACTAAAAGTCATTCATCAAGTCCATAACTTAGGGTCACATTTGTCCTTGGAGCAGGAGAAAGAGTTGTGTTCACCCTTTTCTTACTTTTGCTTTTGTCCTAAGTGCTTCAGAGAAGTACAGGGTGGCAACAGTGTTTCTACTGAGCAGCTGATACCATTGCTATGCACTCATTCATTATGCAGGAAACATTTAGTAATTTCAACATAAATATGGGACTCTGACGTTCTCCTCTTCATTTTGCAGAGCAGTCATTATGGCGAACCTTGGCTGCTGGATGCTGGTTCTCTTTGTGGCCACATGGAGTGACCTGGGCCTCTGCAAGAAGCGCCCGAAGCCTGGAGGATGGAACACTGGGGGCAGCCGATACCCGGGGCAGGGCAGCCCTGGAGGCAACCGCTACCCACCTCAGGGCGGTGGTGGCTGGGGGCAGCCTCATGGTGGTGGCTGGGGGCAGCCTCATGGTGGTGGCTGGGGGCAGCCCCATGGTGGTGGCTGGGGACAGCCTCATGGTGGTGGCTGGGGTCAAGGAGGTGGCACCCACAGTCAGTGGAACAAGCCGAGTAAGCCAAAAACCAACATGAAGCACATGGCTGGTGCTGCAGCAGCTGGGGCAGTGGTGGGGGGCCTTGGCGGCTACATGCTGGGAAGTGCCATGAGCAGGCCCATCATACATTTCGGCAGTGACTATGAGGACCGTTACTATCGTGAAAACATGCACCGTTACCCCAACCAAGTGTACTACAGGCCCATGGATGAGTACAGCAACCAGAACAACTTTGTGCACGACTGCGTCAATATCACAATCAAGCAGCACACGGTCACCACAACCACCAAGGGGGAGAACTTCACCGAGACCGACGTTAAGATGATGGAGCGCGTGGTTGAGCAGATGTGTATCACCCAGTACGAGAGGGAATCTCAGGCCTATTACCAGAGAGGATCGAGCATGGTCCTCTTCTCCTCTCCACCTGTGATCCTCCTGATCTCTTTCCTCATCTTCCTGATAGTGGGATGAGGAAGGTCTTCCTGTTTTCACCATCTTTCTAATCTTTTTCCAGCTTGAGGGAGGCGGTATCCACCTGCAGCCCTTTTAGTGGTGGTGTCTCACTCTTTCTTCTCTCTTTGTCCCGGATAGGCTAATCAATACCCTTGGCACTGATGGGCACTGGAAAACATAGAGTAGACCTGAGATGCTGGTCAAGCCCCCTTTGATTGAGTTCATCATGAGCCGTTGCTAATGCCAGGCCAGTAAAAGTATAACAGCAAATAACCATTGGTTAATCTGGACTTATTTTTGGACTTAGTGCAACAGGTTGAGGCTAAAACAAATCTCAGAACAGTCTGAAATACCTTTGCCTGGATACCTCTGGCTCCTTCAGCAGCTAGAGCTCAGTATACTAATGCCCTATCTTAGTAGAGATTTCATAGCTATTTAGAGATATTTTCCATTTTAAGAAAACCCGACAACATTTCTGCCAGGTTTGTTAGGAGGCCACATGATACTTATTCAAAAAAATCCTAGAGATTCTTAGCTCTTGGGATGCAGGCTCAGCCCGCTGGAGCATGAGCTCTGTGTGTACCGAGAACTGGGGTGATGTTTTACTTTTCACAGTATGGGCTACACAGCAGCTGTTCAACAAGAGTAAATATTGTCACAACACTGAACCTCTGGCTAGAGGACATATTCACAGTGAACATAACTGTAACATATATGAAAGGCTTCTGGGACTTGAAATCAAATGTTTGGGAATGGTGCCCTTGGAGGCAACCTCCCATTTTAGATGTTTAAAGGACCCTATATGTGGCATTCCTTTCTTTAAACTATAGGTAATTAAGGCAGCTGAAAAGTAAATTGCCTTCTAGACACTGAAGGCAAATCTCCTTTGTCCATTTACCTGGAAACCAGAATGATTTTGACATACAGGAGAGCTGCAGTTGTGAAAGCACCATCATCATAGAGGATGATGTAATTAAAAAATGGTCAGTGTGCAAAGAAAAGAACTGCTTGCATTTCTTTATTTCTGTCTCATAATTGTCAAAAACCAGAATTAGGTCAAGTTCATAGTTTCTGTAATTGGCTTTTGAATCAAAGAATAGGGAGACAATCTAAAAAATATCTTAGGTTGGAGATGACAGAAATATGATTGATTTGAAGTGGAAAAAGAAATTCTGTTAATGTTAATTAAAGTAAAATTATTCCCTGAATTGTTTGATATTGTCACCTAGCAGATATGTATTACTTTTCTGCAATGTTATTATTGGCTTGCACTTTGTGAGTATTCTATGTAAAAATATATATGTATATAAAATATATATTGCATAGGACAGACTTAGGAGTTTTGTTTAGAGCAGTTAACATCTGAAGTGTCTAATGCATTAACTTTTGTAAGGTACTGAATACTTAATATGTGGGAAACCCTTTTGCGTGGTCCTTAGGCTTACAATGTGCACTGAATCGTTTCATGTAAGAATCCAAAGTGGACACCATTAACAGGTCTTTGAAATATGCATGTACTTTATATTTTCTATATTTGTAACTTTGCATGTTCTTGTTTTGTTATATAAAAAAATTGTAAATGTTTAATATCTGACTGAAATTAAACGAGCGAAGAT
GTGATGGGAACAGCCCCACTGAGCAAACTTTAGCCACATGAGTAGCTGGAAGAAAAGCCTTCTAGGACCAGGGAACAGCAAGTGCAACAGCCCTGAGACAGGATGGGCTTGTCAGTTTGAGGAGCAGTGGGAGGCCTGAACCAGGTTACATGGGGCCCAGCCAGTATGGCCACGACTTTGTGTTTTATCCAGAGTACAAAGGAGCCTCACTGAGGGACAAGGGAAGTGGCATGATGTGACCCGCATATTAAGAGGAGAGCGCTCAATGGCAGCCAGGGGAGGAGCAGGGAGGCTGGTTGGGAGGCTGTTGAAGAAATCAGGTGAGAAGTGATGGAAGCACCGAATAAGATGGTCATGTTGGAAAAATTGAGAAGCTGAGGTGCTTAGCATTGATTTTCAAGGTAGAGCTACTGAGATTTGCTGATAGATCCAATGTATGCTGGGAGAGAAAATTCAGTCACTCTAGAGCATTGGCTGGATTTGTCACCCATTGCAGCGAATGGAGAAGGTGCTGACATAAAAGCCCTTTAGACTGAAAGCTACTGACTGAGGGGATGGTGCCCTAGTTTGATTTCCTGGGGTGTATGAGTAGCAGGGAGGCCAAGAGCTGGGCCTCACGAGATTGTGGGGACTACATCAGGGAAGCAGGCCTGCAAAGAACCTGCACCACAGACCCCCACCTAAAAGAGCCTCCAAAAACCCTAACTGGCATGACCTGAGTACTTTAACTCTGCTTGTAACTTTCAAATATATTTTGATTTGCTTATGACCACCAAGGCAAAACTTCCCATTTCAATAATGTTAGTAGAAACATAAACAGGATGTTAATTTATTTATTTGGTAATTCTTTTTATGAATATTATCCAGTTTAATCATTAGCTCTGAAGGAGATGAAAAATAATTTTCTAATTTTTAGAAAAATTTGCAGCTAATTGGGTGATAAAGGTAAGGGGTTTCTGAGTTCACAAAAATGTTCTAAAATTGGCAACAGTTTCGGTTGCACGTTTCATTAAATGTACTAAAAACCATTGAACTGTACATGGTATATGGTGAATTATATGGTATGTGAATTATATCTCAACAAGCTGGGTATTGTTTTTTTAAAAAATAAAAATAAAAAAGGAGAAAGAGAGAGAGAAAAACAATTGCAGATCATCCCAGCACTGAGGACAAGACTAACTTCAGTGTTCCAGTATATGCCATTATAGGTTTTACGGCACACAGTGATGATTTGGAGCCTATGATTTGACCTAGGGTACAGCAGGTACTGTTTAGCAATCATTTTACTATTGTCATAGGTCTCTGCTCTTGGAGCTAAGTGCCCAGGGTAAATGAGATCTTTAATTTGAAAAGAGATTTTTGATTTGATGAATGTACATTCTCCAAAGGGTCATAAATTGTCATTCTGGATGTTTGATCTGTTTGTTGTTTTGGTACAAAAATTAGAAGAAAATAATTCACTCATAAAATGTTAAATAATGAACTAAAAGTCATTCATCAAGTCCATAACTTAGGGTCACATTTGTCCTTGGAGCAGGAGAAAGAGTTGTGTTCACCCTTTTCTTACTTTTGCTTTTGTCCTAAGTGCTTCAGAGAAGTACAGGGTGGCAACAGTGTTTCTACTGAGCAGCTGATACCATTGCTATGCACTCATTCATTATGCAGGAAACATTTAGTAATTTCAACATAAATATGGGACTCTGACGTTCTCCTCTTCATTTTGCAGAGCAGTCATTATGGCGAACCTTGGCTGCTGGATGCTGGTTCTCTTTGTGGCCACATGGAGTGACCTGGGCCTCTGCAAGAAGCGCCCGAAGCCTGGAGGATGGAACACTGGGGGCAGCCGATACCCGGGGCAGGGCAGCCCTGGAGGCAACCGCTACCCACCTCAGGGCGGTGGTGGCTGGGGGCAGCCTCATGGTGGTGGCTGGGGGCAGCCTCATGGTGGTGGCTGGGGGCAGCCCCATGGTGGTGGCTGGGGACAGCCTCATGGTGGTGGCTGGGGTCAAGGAGGTGGCACCCACAGTCAGTGGAACAAGCCGAGTAAGTCAAAAACCAACATGAAGCACATGGCTGGTGCTGCAGCAGCTGGGGCAGTGGTGGGGGGCCTTGGCGGCTACATGCTGGGAAGTGCCATGAGCAGGCCCATCATACATTTCGGCAGTGACTATGAGGACCGTTACTATCGTGAAAACATGCACCGTTACCCCAACCAAGTGTACTACAGGCCCATGGATGAGTACAGCAACCAGAACAACTTTGTGCACGACTGCGTCAATATCACAATCAAGCAGCACACGGTCACCACAACCACCAAGGGGGAGAACTTCACCGAGACCGACGTTAAGATGATGGAGCGCGTGGTTGAGCAGATGTGTATCACCCAGTACGAGAGGGAATCTCAGGCCTATTACCAGAGAGGATCGAGCATGGTCCTCTTCTCCTCTCCACCTGTGATCCTCCTGATCTCTTTCCTCATCTTCCTGATAGTGGGATGAGGAAGGTCTTCCTGTTTTCACCATCTTTCTAATCTTTTTCCAGCTTGAGGGAGGCGGTATCCACCTGCAGCCCTTTTAGTGGTGGTGTCTCACTCTTTCTTCTCTCTTTGTCCCGGATAGGCTAATCAATACCCTTGGCACTGATGGGCACTGGAAAACATAGAGTAGACCTGAGATGCTGGTCAAGCCCCCTTTGATTGAGTTCATCATGAGCCGTTGCTAATGCCAGGCCAGTAAAAGTATAACAGCAAATAACCATTGGTTAATCTGGACTTATTTTTGGACTTAGTGCAACAGGTTGAGGCTAAAACAAATCTCAGAACAGTCTGAAATACCTTTGCCTGGATACCTCTGGCTCCTTCAGCAGCTAGAGCTCAGTATACTAATGCCCTATCTTAGTAGAGATTTCATAGCTATTTAGAGATATTTTCCATTTTAAGAAAACCCGACAACATTTCTGCCAGGTTTGTTAGGAGGCCACATGATACTTATTCAAAAAAATCCTAGAGATTCTTAGCTCTTGGGATGCAGGCTCAGCCCGCTGGAGCATGAGCTCTGTGTGTACCGAGAACTGGGGTGATGTTTTACTTTTCACAGTATGGGCTACACAGCAGCTGTTCAACAAGAGTAAATATTGTCACAACACTGAACCTCTGGCTAGAGGACATATTCACAGTGAACATAACTGTAACATATATGAAAGGCTTCTGGGACTTGAAATCAAATGTTTGGGAATGGTGCCCTTGGAGGCAACCTCCCATTTTAGATGTTTAAAGGACCCTATATGTGGCATTCCTTTCTTTAAACTATAGGTAATTAAGGCAGCTGAAAAGTAAATTGCCTTCTAGACACTGAAGGCAAATCTCCTTTGTCCATTTACCTGGAAACCAGAATGATTTTGACATACAGGAGAGCTGCAGTTGTGAAAGCACCATCATCATAGAGGATGATGTAATTAAAAAATGGTCAGTGTGCAAAGAAAAGAACTGCTTGCATTTCTTTATTTCTGTCTCATAATTGTCAAAAACCAGAATTAGGTCAAGTTCATAGTTTCTGTAATTGGCTTTTGAATCAAAGAATAGGGAGACAATCTAAAAAATATCTTAGGTTGGAGATGACAGAAATATGATTGATTTGAAGTGGAAAAAGAAATTCTGTTAATGTTAATTAAAGTAAAATTATTCCCTGAATTGTTTGATATTGTCACCTAGCAGATATGTATTACTTTTCTGCAATGTTATTATTGGCTTGCACTTTGTGAGTATTCTATGTAAAAATATATATGTATATAAAATATATATTGCATAGGACAGACTTAGGAGTTTTGTTTAGAGCAGTTAACATCTGAAGTGTCTAATGCATTAACTTTTGTAAGGTACTGAATACTTAATATGTGGGAAACCCTTTTGCGTGGTCCTTAGGCTTACAATGTGCACTGAATCGTTTCATGTAAGAATCCAAAGTGGACACCATTAACAGGTCTTTGAAATATGCATGTACTTTATATTTTCTATATTTGTAACTTTGCATGTTCTTGTTTTGTTATATAAAAAAATTGTAAATGTTTAATATCTGACTGAAATTAAACGAGCGAAGAT
Task1_train_27684
The gene PRNP (prion protein (Kanno blood group)) on Chromosome 20 carries this variant. Does this mutation lead to a specific disease, or is it non-pathogenic?
Pathogenic; Inborn genetic diseases
TGATGGGAACAGCCCCACTGAGCAAACTTTAGCCACATGAGTAGCTGGAAGAAAAGCCTTCTAGGACCAGGGAACAGCAAGTGCAACAGCCCTGAGACAGGATGGGCTTGTCAGTTTGAGGAGCAGTGGGAGGCCTGAACCAGGTTACATGGGGCCCAGCCAGTATGGCCACGACTTTGTGTTTTATCCAGAGTACAAAGGAGCCTCACTGAGGGACAAGGGAAGTGGCATGATGTGACCCGCATATTAAGAGGAGAGCGCTCAATGGCAGCCAGGGGAGGAGCAGGGAGGCTGGTTGGGAGGCTGTTGAAGAAATCAGGTGAGAAGTGATGGAAGCACCGAATAAGATGGTCATGTTGGAAAAATTGAGAAGCTGAGGTGCTTAGCATTGATTTTCAAGGTAGAGCTACTGAGATTTGCTGATAGATCCAATGTATGCTGGGAGAGAAAATTCAGTCACTCTAGAGCATTGGCTGGATTTGTCACCCATTGCAGCGAATGGAGAAGGTGCTGACATAAAAGCCCTTTAGACTGAAAGCTACTGACTGAGGGGATGGTGCCCTAGTTTGATTTCCTGGGGTGTATGAGTAGCAGGGAGGCCAAGAGCTGGGCCTCACGAGATTGTGGGGACTACATCAGGGAAGCAGGCCTGCAAAGAACCTGCACCACAGACCCCCACCTAAAAGAGCCTCCAAAAACCCTAACTGGCATGACCTGAGTACTTTAACTCTGCTTGTAACTTTCAAATATATTTTGATTTGCTTATGACCACCAAGGCAAAACTTCCCATTTCAATAATGTTAGTAGAAACATAAACAGGATGTTAATTTATTTATTTGGTAATTCTTTTTATGAATATTATCCAGTTTAATCATTAGCTCTGAAGGAGATGAAAAATAATTTTCTAATTTTTAGAAAAATTTGCAGCTAATTGGGTGATAAAGGTAAGGGGTTTCTGAGTTCACAAAAATGTTCTAAAATTGGCAACAGTTTCGGTTGCACGTTTCATTAAATGTACTAAAAACCATTGAACTGTACATGGTATATGGTGAATTATATGGTATGTGAATTATATCTCAACAAGCTGGGTATTGTTTTTTTAAAAAATAAAAATAAAAAAGGAGAAAGAGAGAGAGAAAAACAATTGCAGATCATCCCAGCACTGAGGACAAGACTAACTTCAGTGTTCCAGTATATGCCATTATAGGTTTTACGGCACACAGTGATGATTTGGAGCCTATGATTTGACCTAGGGTACAGCAGGTACTGTTTAGCAATCATTTTACTATTGTCATAGGTCTCTGCTCTTGGAGCTAAGTGCCCAGGGTAAATGAGATCTTTAATTTGAAAAGAGATTTTTGATTTGATGAATGTACATTCTCCAAAGGGTCATAAATTGTCATTCTGGATGTTTGATCTGTTTGTTGTTTTGGTACAAAAATTAGAAGAAAATAATTCACTCATAAAATGTTAAATAATGAACTAAAAGTCATTCATCAAGTCCATAACTTAGGGTCACATTTGTCCTTGGAGCAGGAGAAAGAGTTGTGTTCACCCTTTTCTTACTTTTGCTTTTGTCCTAAGTGCTTCAGAGAAGTACAGGGTGGCAACAGTGTTTCTACTGAGCAGCTGATACCATTGCTATGCACTCATTCATTATGCAGGAAACATTTAGTAATTTCAACATAAATATGGGACTCTGACGTTCTCCTCTTCATTTTGCAGAGCAGTCATTATGGCGAACCTTGGCTGCTGGATGCTGGTTCTCTTTGTGGCCACATGGAGTGACCTGGGCCTCTGCAAGAAGCGCCCGAAGCCTGGAGGATGGAACACTGGGGGCAGCCGATACCCGGGGCAGGGCAGCCCTGGAGGCAACCGCTACCCACCTCAGGGCGGTGGTGGCTGGGGGCAGCCTCATGGTGGTGGCTGGGGGCAGCCTCATGGTGGTGGCTGGGGGCAGCCCCATGGTGGTGGCTGGGGACAGCCTCATGGTGGTGGCTGGGGTCAAGGAGGTGGCACCCACAGTCAGTGGAACAAGCCGAGTAAGCCAAAAACCAACATGAAGCACATGGCTGGTGCTGCAGCAGCTGGGGCAGTGGTGGGGGGCCTTGGCGGCTACATGCTGGGAAGTGCCATGAGCAGGCCCATCATACATTTCGGCAGTGACTATGAGGACCGTTACTATCGTGAAAACATGCACCGTTACCCCAACCAAGTGTACTACAGGCCCATGGATGAGTACAGCAACCAGAACAACTTTGTGCACGACTGCGTCAATATCACAATCAAGCAGCACACGGTCACCACAACCACCAAGGGGGAGAACTTCACCGAGACCGACGTTAAGATGATGGAGCGCGTGGTTGAGCAGATGTGTATCACCCAGTACGAGAGGGAATCTCAGGCCTATTACCAGAGAGGATCGAGCATGGTCCTCTTCTCCTCTCCACCTGTGATCCTCCTGATCTCTTTCCTCATCTTCCTGATAGTGGGATGAGGAAGGTCTTCCTGTTTTCACCATCTTTCTAATCTTTTTCCAGCTTGAGGGAGGCGGTATCCACCTGCAGCCCTTTTAGTGGTGGTGTCTCACTCTTTCTTCTCTCTTTGTCCCGGATAGGCTAATCAATACCCTTGGCACTGATGGGCACTGGAAAACATAGAGTAGACCTGAGATGCTGGTCAAGCCCCCTTTGATTGAGTTCATCATGAGCCGTTGCTAATGCCAGGCCAGTAAAAGTATAACAGCAAATAACCATTGGTTAATCTGGACTTATTTTTGGACTTAGTGCAACAGGTTGAGGCTAAAACAAATCTCAGAACAGTCTGAAATACCTTTGCCTGGATACCTCTGGCTCCTTCAGCAGCTAGAGCTCAGTATACTAATGCCCTATCTTAGTAGAGATTTCATAGCTATTTAGAGATATTTTCCATTTTAAGAAAACCCGACAACATTTCTGCCAGGTTTGTTAGGAGGCCACATGATACTTATTCAAAAAAATCCTAGAGATTCTTAGCTCTTGGGATGCAGGCTCAGCCCGCTGGAGCATGAGCTCTGTGTGTACCGAGAACTGGGGTGATGTTTTACTTTTCACAGTATGGGCTACACAGCAGCTGTTCAACAAGAGTAAATATTGTCACAACACTGAACCTCTGGCTAGAGGACATATTCACAGTGAACATAACTGTAACATATATGAAAGGCTTCTGGGACTTGAAATCAAATGTTTGGGAATGGTGCCCTTGGAGGCAACCTCCCATTTTAGATGTTTAAAGGACCCTATATGTGGCATTCCTTTCTTTAAACTATAGGTAATTAAGGCAGCTGAAAAGTAAATTGCCTTCTAGACACTGAAGGCAAATCTCCTTTGTCCATTTACCTGGAAACCAGAATGATTTTGACATACAGGAGAGCTGCAGTTGTGAAAGCACCATCATCATAGAGGATGATGTAATTAAAAAATGGTCAGTGTGCAAAGAAAAGAACTGCTTGCATTTCTTTATTTCTGTCTCATAATTGTCAAAAACCAGAATTAGGTCAAGTTCATAGTTTCTGTAATTGGCTTTTGAATCAAAGAATAGGGAGACAATCTAAAAAATATCTTAGGTTGGAGATGACAGAAATATGATTGATTTGAAGTGGAAAAAGAAATTCTGTTAATGTTAATTAAAGTAAAATTATTCCCTGAATTGTTTGATATTGTCACCTAGCAGATATGTATTACTTTTCTGCAATGTTATTATTGGCTTGCACTTTGTGAGTATTCTATGTAAAAATATATATGTATATAAAATATATATTGCATAGGACAGACTTAGGAGTTTTGTTTAGAGCAGTTAACATCTGAAGTGTCTAATGCATTAACTTTTGTAAGGTACTGAATACTTAATATGTGGGAAACCCTTTTGCGTGGTCCTTAGGCTTACAATGTGCACTGAATCGTTTCATGTAAGAATCCAAAGTGGACACCATTAACAGGTCTTTGAAATATGCATGTACTTTATATTTTCTATATTTGTAACTTTGCATGTTCTTGTTTTGTTATATAAAAAAATTGTAAATGTTTAATATCTGACTGAAATTAAACGAGCGAAGATG
TGATGGGAACAGCCCCACTGAGCAAACTTTAGCCACATGAGTAGCTGGAAGAAAAGCCTTCTAGGACCAGGGAACAGCAAGTGCAACAGCCCTGAGACAGGATGGGCTTGTCAGTTTGAGGAGCAGTGGGAGGCCTGAACCAGGTTACATGGGGCCCAGCCAGTATGGCCACGACTTTGTGTTTTATCCAGAGTACAAAGGAGCCTCACTGAGGGACAAGGGAAGTGGCATGATGTGACCCGCATATTAAGAGGAGAGCGCTCAATGGCAGCCAGGGGAGGAGCAGGGAGGCTGGTTGGGAGGCTGTTGAAGAAATCAGGTGAGAAGTGATGGAAGCACCGAATAAGATGGTCATGTTGGAAAAATTGAGAAGCTGAGGTGCTTAGCATTGATTTTCAAGGTAGAGCTACTGAGATTTGCTGATAGATCCAATGTATGCTGGGAGAGAAAATTCAGTCACTCTAGAGCATTGGCTGGATTTGTCACCCATTGCAGCGAATGGAGAAGGTGCTGACATAAAAGCCCTTTAGACTGAAAGCTACTGACTGAGGGGATGGTGCCCTAGTTTGATTTCCTGGGGTGTATGAGTAGCAGGGAGGCCAAGAGCTGGGCCTCACGAGATTGTGGGGACTACATCAGGGAAGCAGGCCTGCAAAGAACCTGCACCACAGACCCCCACCTAAAAGAGCCTCCAAAAACCCTAACTGGCATGACCTGAGTACTTTAACTCTGCTTGTAACTTTCAAATATATTTTGATTTGCTTATGACCACCAAGGCAAAACTTCCCATTTCAATAATGTTAGTAGAAACATAAACAGGATGTTAATTTATTTATTTGGTAATTCTTTTTATGAATATTATCCAGTTTAATCATTAGCTCTGAAGGAGATGAAAAATAATTTTCTAATTTTTAGAAAAATTTGCAGCTAATTGGGTGATAAAGGTAAGGGGTTTCTGAGTTCACAAAAATGTTCTAAAATTGGCAACAGTTTCGGTTGCACGTTTCATTAAATGTACTAAAAACCATTGAACTGTACATGGTATATGGTGAATTATATGGTATGTGAATTATATCTCAACAAGCTGGGTATTGTTTTTTTAAAAAATAAAAATAAAAAAGGAGAAAGAGAGAGAGAAAAACAATTGCAGATCATCCCAGCACTGAGGACAAGACTAACTTCAGTGTTCCAGTATATGCCATTATAGGTTTTACGGCACACAGTGATGATTTGGAGCCTATGATTTGACCTAGGGTACAGCAGGTACTGTTTAGCAATCATTTTACTATTGTCATAGGTCTCTGCTCTTGGAGCTAAGTGCCCAGGGTAAATGAGATCTTTAATTTGAAAAGAGATTTTTGATTTGATGAATGTACATTCTCCAAAGGGTCATAAATTGTCATTCTGGATGTTTGATCTGTTTGTTGTTTTGGTACAAAAATTAGAAGAAAATAATTCACTCATAAAATGTTAAATAATGAACTAAAAGTCATTCATCAAGTCCATAACTTAGGGTCACATTTGTCCTTGGAGCAGGAGAAAGAGTTGTGTTCACCCTTTTCTTACTTTTGCTTTTGTCCTAAGTGCTTCAGAGAAGTACAGGGTGGCAACAGTGTTTCTACTGAGCAGCTGATACCATTGCTATGCACTCATTCATTATGCAGGAAACATTTAGTAATTTCAACATAAATATGGGACTCTGACGTTCTCCTCTTCATTTTGCAGAGCAGTCATTATGGCGAACCTTGGCTGCTGGATGCTGGTTCTCTTTGTGGCCACATGGAGTGACCTGGGCCTCTGCAAGAAGCGCCCGAAGCCTGGAGGATGGAACACTGGGGGCAGCCGATACCCGGGGCAGGGCAGCCCTGGAGGCAACCGCTACCCACCTCAGGGCGGTGGTGGCTGGGGGCAGCCTCATGGTGGTGGCTGGGGGCAGCCTCATGGTGGTGGCTGGGGGCAGCCCCATGGTGGTGGCTGGGGACAGCCTCATGGTGGTGGCTGGGGTCAAGGAGGTGGCACCCACAGTCAGTGGAACAAGCCGAGTAAGCTAAAAACCAACATGAAGCACATGGCTGGTGCTGCAGCAGCTGGGGCAGTGGTGGGGGGCCTTGGCGGCTACATGCTGGGAAGTGCCATGAGCAGGCCCATCATACATTTCGGCAGTGACTATGAGGACCGTTACTATCGTGAAAACATGCACCGTTACCCCAACCAAGTGTACTACAGGCCCATGGATGAGTACAGCAACCAGAACAACTTTGTGCACGACTGCGTCAATATCACAATCAAGCAGCACACGGTCACCACAACCACCAAGGGGGAGAACTTCACCGAGACCGACGTTAAGATGATGGAGCGCGTGGTTGAGCAGATGTGTATCACCCAGTACGAGAGGGAATCTCAGGCCTATTACCAGAGAGGATCGAGCATGGTCCTCTTCTCCTCTCCACCTGTGATCCTCCTGATCTCTTTCCTCATCTTCCTGATAGTGGGATGAGGAAGGTCTTCCTGTTTTCACCATCTTTCTAATCTTTTTCCAGCTTGAGGGAGGCGGTATCCACCTGCAGCCCTTTTAGTGGTGGTGTCTCACTCTTTCTTCTCTCTTTGTCCCGGATAGGCTAATCAATACCCTTGGCACTGATGGGCACTGGAAAACATAGAGTAGACCTGAGATGCTGGTCAAGCCCCCTTTGATTGAGTTCATCATGAGCCGTTGCTAATGCCAGGCCAGTAAAAGTATAACAGCAAATAACCATTGGTTAATCTGGACTTATTTTTGGACTTAGTGCAACAGGTTGAGGCTAAAACAAATCTCAGAACAGTCTGAAATACCTTTGCCTGGATACCTCTGGCTCCTTCAGCAGCTAGAGCTCAGTATACTAATGCCCTATCTTAGTAGAGATTTCATAGCTATTTAGAGATATTTTCCATTTTAAGAAAACCCGACAACATTTCTGCCAGGTTTGTTAGGAGGCCACATGATACTTATTCAAAAAAATCCTAGAGATTCTTAGCTCTTGGGATGCAGGCTCAGCCCGCTGGAGCATGAGCTCTGTGTGTACCGAGAACTGGGGTGATGTTTTACTTTTCACAGTATGGGCTACACAGCAGCTGTTCAACAAGAGTAAATATTGTCACAACACTGAACCTCTGGCTAGAGGACATATTCACAGTGAACATAACTGTAACATATATGAAAGGCTTCTGGGACTTGAAATCAAATGTTTGGGAATGGTGCCCTTGGAGGCAACCTCCCATTTTAGATGTTTAAAGGACCCTATATGTGGCATTCCTTTCTTTAAACTATAGGTAATTAAGGCAGCTGAAAAGTAAATTGCCTTCTAGACACTGAAGGCAAATCTCCTTTGTCCATTTACCTGGAAACCAGAATGATTTTGACATACAGGAGAGCTGCAGTTGTGAAAGCACCATCATCATAGAGGATGATGTAATTAAAAAATGGTCAGTGTGCAAAGAAAAGAACTGCTTGCATTTCTTTATTTCTGTCTCATAATTGTCAAAAACCAGAATTAGGTCAAGTTCATAGTTTCTGTAATTGGCTTTTGAATCAAAGAATAGGGAGACAATCTAAAAAATATCTTAGGTTGGAGATGACAGAAATATGATTGATTTGAAGTGGAAAAAGAAATTCTGTTAATGTTAATTAAAGTAAAATTATTCCCTGAATTGTTTGATATTGTCACCTAGCAGATATGTATTACTTTTCTGCAATGTTATTATTGGCTTGCACTTTGTGAGTATTCTATGTAAAAATATATATGTATATAAAATATATATTGCATAGGACAGACTTAGGAGTTTTGTTTAGAGCAGTTAACATCTGAAGTGTCTAATGCATTAACTTTTGTAAGGTACTGAATACTTAATATGTGGGAAACCCTTTTGCGTGGTCCTTAGGCTTACAATGTGCACTGAATCGTTTCATGTAAGAATCCAAAGTGGACACCATTAACAGGTCTTTGAAATATGCATGTACTTTATATTTTCTATATTTGTAACTTTGCATGTTCTTGTTTTGTTATATAAAAAAATTGTAAATGTTTAATATCTGACTGAAATTAAACGAGCGAAGATG
Task1_train_27685
This variant affects gene PRNP (prion protein (Kanno blood group)) located on Chromosome 20. Evaluate its biological effect and specify any disease association.
Pathogenic; Inborn genetic diseases
ATGAGTAGCTGGAAGAAAAGCCTTCTAGGACCAGGGAACAGCAAGTGCAACAGCCCTGAGACAGGATGGGCTTGTCAGTTTGAGGAGCAGTGGGAGGCCTGAACCAGGTTACATGGGGCCCAGCCAGTATGGCCACGACTTTGTGTTTTATCCAGAGTACAAAGGAGCCTCACTGAGGGACAAGGGAAGTGGCATGATGTGACCCGCATATTAAGAGGAGAGCGCTCAATGGCAGCCAGGGGAGGAGCAGGGAGGCTGGTTGGGAGGCTGTTGAAGAAATCAGGTGAGAAGTGATGGAAGCACCGAATAAGATGGTCATGTTGGAAAAATTGAGAAGCTGAGGTGCTTAGCATTGATTTTCAAGGTAGAGCTACTGAGATTTGCTGATAGATCCAATGTATGCTGGGAGAGAAAATTCAGTCACTCTAGAGCATTGGCTGGATTTGTCACCCATTGCAGCGAATGGAGAAGGTGCTGACATAAAAGCCCTTTAGACTGAAAGCTACTGACTGAGGGGATGGTGCCCTAGTTTGATTTCCTGGGGTGTATGAGTAGCAGGGAGGCCAAGAGCTGGGCCTCACGAGATTGTGGGGACTACATCAGGGAAGCAGGCCTGCAAAGAACCTGCACCACAGACCCCCACCTAAAAGAGCCTCCAAAAACCCTAACTGGCATGACCTGAGTACTTTAACTCTGCTTGTAACTTTCAAATATATTTTGATTTGCTTATGACCACCAAGGCAAAACTTCCCATTTCAATAATGTTAGTAGAAACATAAACAGGATGTTAATTTATTTATTTGGTAATTCTTTTTATGAATATTATCCAGTTTAATCATTAGCTCTGAAGGAGATGAAAAATAATTTTCTAATTTTTAGAAAAATTTGCAGCTAATTGGGTGATAAAGGTAAGGGGTTTCTGAGTTCACAAAAATGTTCTAAAATTGGCAACAGTTTCGGTTGCACGTTTCATTAAATGTACTAAAAACCATTGAACTGTACATGGTATATGGTGAATTATATGGTATGTGAATTATATCTCAACAAGCTGGGTATTGTTTTTTTAAAAAATAAAAATAAAAAAGGAGAAAGAGAGAGAGAAAAACAATTGCAGATCATCCCAGCACTGAGGACAAGACTAACTTCAGTGTTCCAGTATATGCCATTATAGGTTTTACGGCACACAGTGATGATTTGGAGCCTATGATTTGACCTAGGGTACAGCAGGTACTGTTTAGCAATCATTTTACTATTGTCATAGGTCTCTGCTCTTGGAGCTAAGTGCCCAGGGTAAATGAGATCTTTAATTTGAAAAGAGATTTTTGATTTGATGAATGTACATTCTCCAAAGGGTCATAAATTGTCATTCTGGATGTTTGATCTGTTTGTTGTTTTGGTACAAAAATTAGAAGAAAATAATTCACTCATAAAATGTTAAATAATGAACTAAAAGTCATTCATCAAGTCCATAACTTAGGGTCACATTTGTCCTTGGAGCAGGAGAAAGAGTTGTGTTCACCCTTTTCTTACTTTTGCTTTTGTCCTAAGTGCTTCAGAGAAGTACAGGGTGGCAACAGTGTTTCTACTGAGCAGCTGATACCATTGCTATGCACTCATTCATTATGCAGGAAACATTTAGTAATTTCAACATAAATATGGGACTCTGACGTTCTCCTCTTCATTTTGCAGAGCAGTCATTATGGCGAACCTTGGCTGCTGGATGCTGGTTCTCTTTGTGGCCACATGGAGTGACCTGGGCCTCTGCAAGAAGCGCCCGAAGCCTGGAGGATGGAACACTGGGGGCAGCCGATACCCGGGGCAGGGCAGCCCTGGAGGCAACCGCTACCCACCTCAGGGCGGTGGTGGCTGGGGGCAGCCTCATGGTGGTGGCTGGGGGCAGCCTCATGGTGGTGGCTGGGGGCAGCCCCATGGTGGTGGCTGGGGACAGCCTCATGGTGGTGGCTGGGGTCAAGGAGGTGGCACCCACAGTCAGTGGAACAAGCCGAGTAAGCCAAAAACCAACATGAAGCACATGGCTGGTGCTGCAGCAGCTGGGGCAGTGGTGGGGGGCCTTGGCGGCTACATGCTGGGAAGTGCCATGAGCAGGCCCATCATACATTTCGGCAGTGACTATGAGGACCGTTACTATCGTGAAAACATGCACCGTTACCCCAACCAAGTGTACTACAGGCCCATGGATGAGTACAGCAACCAGAACAACTTTGTGCACGACTGCGTCAATATCACAATCAAGCAGCACACGGTCACCACAACCACCAAGGGGGAGAACTTCACCGAGACCGACGTTAAGATGATGGAGCGCGTGGTTGAGCAGATGTGTATCACCCAGTACGAGAGGGAATCTCAGGCCTATTACCAGAGAGGATCGAGCATGGTCCTCTTCTCCTCTCCACCTGTGATCCTCCTGATCTCTTTCCTCATCTTCCTGATAGTGGGATGAGGAAGGTCTTCCTGTTTTCACCATCTTTCTAATCTTTTTCCAGCTTGAGGGAGGCGGTATCCACCTGCAGCCCTTTTAGTGGTGGTGTCTCACTCTTTCTTCTCTCTTTGTCCCGGATAGGCTAATCAATACCCTTGGCACTGATGGGCACTGGAAAACATAGAGTAGACCTGAGATGCTGGTCAAGCCCCCTTTGATTGAGTTCATCATGAGCCGTTGCTAATGCCAGGCCAGTAAAAGTATAACAGCAAATAACCATTGGTTAATCTGGACTTATTTTTGGACTTAGTGCAACAGGTTGAGGCTAAAACAAATCTCAGAACAGTCTGAAATACCTTTGCCTGGATACCTCTGGCTCCTTCAGCAGCTAGAGCTCAGTATACTAATGCCCTATCTTAGTAGAGATTTCATAGCTATTTAGAGATATTTTCCATTTTAAGAAAACCCGACAACATTTCTGCCAGGTTTGTTAGGAGGCCACATGATACTTATTCAAAAAAATCCTAGAGATTCTTAGCTCTTGGGATGCAGGCTCAGCCCGCTGGAGCATGAGCTCTGTGTGTACCGAGAACTGGGGTGATGTTTTACTTTTCACAGTATGGGCTACACAGCAGCTGTTCAACAAGAGTAAATATTGTCACAACACTGAACCTCTGGCTAGAGGACATATTCACAGTGAACATAACTGTAACATATATGAAAGGCTTCTGGGACTTGAAATCAAATGTTTGGGAATGGTGCCCTTGGAGGCAACCTCCCATTTTAGATGTTTAAAGGACCCTATATGTGGCATTCCTTTCTTTAAACTATAGGTAATTAAGGCAGCTGAAAAGTAAATTGCCTTCTAGACACTGAAGGCAAATCTCCTTTGTCCATTTACCTGGAAACCAGAATGATTTTGACATACAGGAGAGCTGCAGTTGTGAAAGCACCATCATCATAGAGGATGATGTAATTAAAAAATGGTCAGTGTGCAAAGAAAAGAACTGCTTGCATTTCTTTATTTCTGTCTCATAATTGTCAAAAACCAGAATTAGGTCAAGTTCATAGTTTCTGTAATTGGCTTTTGAATCAAAGAATAGGGAGACAATCTAAAAAATATCTTAGGTTGGAGATGACAGAAATATGATTGATTTGAAGTGGAAAAAGAAATTCTGTTAATGTTAATTAAAGTAAAATTATTCCCTGAATTGTTTGATATTGTCACCTAGCAGATATGTATTACTTTTCTGCAATGTTATTATTGGCTTGCACTTTGTGAGTATTCTATGTAAAAATATATATGTATATAAAATATATATTGCATAGGACAGACTTAGGAGTTTTGTTTAGAGCAGTTAACATCTGAAGTGTCTAATGCATTAACTTTTGTAAGGTACTGAATACTTAATATGTGGGAAACCCTTTTGCGTGGTCCTTAGGCTTACAATGTGCACTGAATCGTTTCATGTAAGAATCCAAAGTGGACACCATTAACAGGTCTTTGAAATATGCATGTACTTTATATTTTCTATATTTGTAACTTTGCATGTTCTTGTTTTGTTATATAAAAAAATTGTAAATGTTTAATATCTGACTGAAATTAAACGAGCGAAGATGAGCACCACCTCCCGTGTCTGCAGTTGTATTTCCTGG
ATGAGTAGCTGGAAGAAAAGCCTTCTAGGACCAGGGAACAGCAAGTGCAACAGCCCTGAGACAGGATGGGCTTGTCAGTTTGAGGAGCAGTGGGAGGCCTGAACCAGGTTACATGGGGCCCAGCCAGTATGGCCACGACTTTGTGTTTTATCCAGAGTACAAAGGAGCCTCACTGAGGGACAAGGGAAGTGGCATGATGTGACCCGCATATTAAGAGGAGAGCGCTCAATGGCAGCCAGGGGAGGAGCAGGGAGGCTGGTTGGGAGGCTGTTGAAGAAATCAGGTGAGAAGTGATGGAAGCACCGAATAAGATGGTCATGTTGGAAAAATTGAGAAGCTGAGGTGCTTAGCATTGATTTTCAAGGTAGAGCTACTGAGATTTGCTGATAGATCCAATGTATGCTGGGAGAGAAAATTCAGTCACTCTAGAGCATTGGCTGGATTTGTCACCCATTGCAGCGAATGGAGAAGGTGCTGACATAAAAGCCCTTTAGACTGAAAGCTACTGACTGAGGGGATGGTGCCCTAGTTTGATTTCCTGGGGTGTATGAGTAGCAGGGAGGCCAAGAGCTGGGCCTCACGAGATTGTGGGGACTACATCAGGGAAGCAGGCCTGCAAAGAACCTGCACCACAGACCCCCACCTAAAAGAGCCTCCAAAAACCCTAACTGGCATGACCTGAGTACTTTAACTCTGCTTGTAACTTTCAAATATATTTTGATTTGCTTATGACCACCAAGGCAAAACTTCCCATTTCAATAATGTTAGTAGAAACATAAACAGGATGTTAATTTATTTATTTGGTAATTCTTTTTATGAATATTATCCAGTTTAATCATTAGCTCTGAAGGAGATGAAAAATAATTTTCTAATTTTTAGAAAAATTTGCAGCTAATTGGGTGATAAAGGTAAGGGGTTTCTGAGTTCACAAAAATGTTCTAAAATTGGCAACAGTTTCGGTTGCACGTTTCATTAAATGTACTAAAAACCATTGAACTGTACATGGTATATGGTGAATTATATGGTATGTGAATTATATCTCAACAAGCTGGGTATTGTTTTTTTAAAAAATAAAAATAAAAAAGGAGAAAGAGAGAGAGAAAAACAATTGCAGATCATCCCAGCACTGAGGACAAGACTAACTTCAGTGTTCCAGTATATGCCATTATAGGTTTTACGGCACACAGTGATGATTTGGAGCCTATGATTTGACCTAGGGTACAGCAGGTACTGTTTAGCAATCATTTTACTATTGTCATAGGTCTCTGCTCTTGGAGCTAAGTGCCCAGGGTAAATGAGATCTTTAATTTGAAAAGAGATTTTTGATTTGATGAATGTACATTCTCCAAAGGGTCATAAATTGTCATTCTGGATGTTTGATCTGTTTGTTGTTTTGGTACAAAAATTAGAAGAAAATAATTCACTCATAAAATGTTAAATAATGAACTAAAAGTCATTCATCAAGTCCATAACTTAGGGTCACATTTGTCCTTGGAGCAGGAGAAAGAGTTGTGTTCACCCTTTTCTTACTTTTGCTTTTGTCCTAAGTGCTTCAGAGAAGTACAGGGTGGCAACAGTGTTTCTACTGAGCAGCTGATACCATTGCTATGCACTCATTCATTATGCAGGAAACATTTAGTAATTTCAACATAAATATGGGACTCTGACGTTCTCCTCTTCATTTTGCAGAGCAGTCATTATGGCGAACCTTGGCTGCTGGATGCTGGTTCTCTTTGTGGCCACATGGAGTGACCTGGGCCTCTGCAAGAAGCGCCCGAAGCCTGGAGGATGGAACACTGGGGGCAGCCGATACCCGGGGCAGGGCAGCCCTGGAGGCAACCGCTACCCACCTCAGGGCGGTGGTGGCTGGGGGCAGCCTCATGGTGGTGGCTGGGGGCAGCCTCATGGTGGTGGCTGGGGGCAGCCCCATGGTGGTGGCTGGGGACAGCCTCATGGTGGTGGCTGGGGTCAAGGAGGTGGCACCCACAGTCAGTGGAACAAGCCGAGTAAGCCAAAAACCAACATGAAGCACATGGCTGGTGCTGCAGTAGCTGGGGCAGTGGTGGGGGGCCTTGGCGGCTACATGCTGGGAAGTGCCATGAGCAGGCCCATCATACATTTCGGCAGTGACTATGAGGACCGTTACTATCGTGAAAACATGCACCGTTACCCCAACCAAGTGTACTACAGGCCCATGGATGAGTACAGCAACCAGAACAACTTTGTGCACGACTGCGTCAATATCACAATCAAGCAGCACACGGTCACCACAACCACCAAGGGGGAGAACTTCACCGAGACCGACGTTAAGATGATGGAGCGCGTGGTTGAGCAGATGTGTATCACCCAGTACGAGAGGGAATCTCAGGCCTATTACCAGAGAGGATCGAGCATGGTCCTCTTCTCCTCTCCACCTGTGATCCTCCTGATCTCTTTCCTCATCTTCCTGATAGTGGGATGAGGAAGGTCTTCCTGTTTTCACCATCTTTCTAATCTTTTTCCAGCTTGAGGGAGGCGGTATCCACCTGCAGCCCTTTTAGTGGTGGTGTCTCACTCTTTCTTCTCTCTTTGTCCCGGATAGGCTAATCAATACCCTTGGCACTGATGGGCACTGGAAAACATAGAGTAGACCTGAGATGCTGGTCAAGCCCCCTTTGATTGAGTTCATCATGAGCCGTTGCTAATGCCAGGCCAGTAAAAGTATAACAGCAAATAACCATTGGTTAATCTGGACTTATTTTTGGACTTAGTGCAACAGGTTGAGGCTAAAACAAATCTCAGAACAGTCTGAAATACCTTTGCCTGGATACCTCTGGCTCCTTCAGCAGCTAGAGCTCAGTATACTAATGCCCTATCTTAGTAGAGATTTCATAGCTATTTAGAGATATTTTCCATTTTAAGAAAACCCGACAACATTTCTGCCAGGTTTGTTAGGAGGCCACATGATACTTATTCAAAAAAATCCTAGAGATTCTTAGCTCTTGGGATGCAGGCTCAGCCCGCTGGAGCATGAGCTCTGTGTGTACCGAGAACTGGGGTGATGTTTTACTTTTCACAGTATGGGCTACACAGCAGCTGTTCAACAAGAGTAAATATTGTCACAACACTGAACCTCTGGCTAGAGGACATATTCACAGTGAACATAACTGTAACATATATGAAAGGCTTCTGGGACTTGAAATCAAATGTTTGGGAATGGTGCCCTTGGAGGCAACCTCCCATTTTAGATGTTTAAAGGACCCTATATGTGGCATTCCTTTCTTTAAACTATAGGTAATTAAGGCAGCTGAAAAGTAAATTGCCTTCTAGACACTGAAGGCAAATCTCCTTTGTCCATTTACCTGGAAACCAGAATGATTTTGACATACAGGAGAGCTGCAGTTGTGAAAGCACCATCATCATAGAGGATGATGTAATTAAAAAATGGTCAGTGTGCAAAGAAAAGAACTGCTTGCATTTCTTTATTTCTGTCTCATAATTGTCAAAAACCAGAATTAGGTCAAGTTCATAGTTTCTGTAATTGGCTTTTGAATCAAAGAATAGGGAGACAATCTAAAAAATATCTTAGGTTGGAGATGACAGAAATATGATTGATTTGAAGTGGAAAAAGAAATTCTGTTAATGTTAATTAAAGTAAAATTATTCCCTGAATTGTTTGATATTGTCACCTAGCAGATATGTATTACTTTTCTGCAATGTTATTATTGGCTTGCACTTTGTGAGTATTCTATGTAAAAATATATATGTATATAAAATATATATTGCATAGGACAGACTTAGGAGTTTTGTTTAGAGCAGTTAACATCTGAAGTGTCTAATGCATTAACTTTTGTAAGGTACTGAATACTTAATATGTGGGAAACCCTTTTGCGTGGTCCTTAGGCTTACAATGTGCACTGAATCGTTTCATGTAAGAATCCAAAGTGGACACCATTAACAGGTCTTTGAAATATGCATGTACTTTATATTTTCTATATTTGTAACTTTGCATGTTCTTGTTTTGTTATATAAAAAAATTGTAAATGTTTAATATCTGACTGAAATTAAACGAGCGAAGATGAGCACCACCTCCCGTGTCTGCAGTTGTATTTCCTGG
Task1_train_27686
A mutation on Chromosome 20 affecting PRNP (prion protein (Kanno blood group)) has been found. Is it harmful or harmless? What disease, if any, does it cause?
Pathogenic; Gerstmann-Straussler-Scheinker syndrome
AACAGCCCTGAGACAGGATGGGCTTGTCAGTTTGAGGAGCAGTGGGAGGCCTGAACCAGGTTACATGGGGCCCAGCCAGTATGGCCACGACTTTGTGTTTTATCCAGAGTACAAAGGAGCCTCACTGAGGGACAAGGGAAGTGGCATGATGTGACCCGCATATTAAGAGGAGAGCGCTCAATGGCAGCCAGGGGAGGAGCAGGGAGGCTGGTTGGGAGGCTGTTGAAGAAATCAGGTGAGAAGTGATGGAAGCACCGAATAAGATGGTCATGTTGGAAAAATTGAGAAGCTGAGGTGCTTAGCATTGATTTTCAAGGTAGAGCTACTGAGATTTGCTGATAGATCCAATGTATGCTGGGAGAGAAAATTCAGTCACTCTAGAGCATTGGCTGGATTTGTCACCCATTGCAGCGAATGGAGAAGGTGCTGACATAAAAGCCCTTTAGACTGAAAGCTACTGACTGAGGGGATGGTGCCCTAGTTTGATTTCCTGGGGTGTATGAGTAGCAGGGAGGCCAAGAGCTGGGCCTCACGAGATTGTGGGGACTACATCAGGGAAGCAGGCCTGCAAAGAACCTGCACCACAGACCCCCACCTAAAAGAGCCTCCAAAAACCCTAACTGGCATGACCTGAGTACTTTAACTCTGCTTGTAACTTTCAAATATATTTTGATTTGCTTATGACCACCAAGGCAAAACTTCCCATTTCAATAATGTTAGTAGAAACATAAACAGGATGTTAATTTATTTATTTGGTAATTCTTTTTATGAATATTATCCAGTTTAATCATTAGCTCTGAAGGAGATGAAAAATAATTTTCTAATTTTTAGAAAAATTTGCAGCTAATTGGGTGATAAAGGTAAGGGGTTTCTGAGTTCACAAAAATGTTCTAAAATTGGCAACAGTTTCGGTTGCACGTTTCATTAAATGTACTAAAAACCATTGAACTGTACATGGTATATGGTGAATTATATGGTATGTGAATTATATCTCAACAAGCTGGGTATTGTTTTTTTAAAAAATAAAAATAAAAAAGGAGAAAGAGAGAGAGAAAAACAATTGCAGATCATCCCAGCACTGAGGACAAGACTAACTTCAGTGTTCCAGTATATGCCATTATAGGTTTTACGGCACACAGTGATGATTTGGAGCCTATGATTTGACCTAGGGTACAGCAGGTACTGTTTAGCAATCATTTTACTATTGTCATAGGTCTCTGCTCTTGGAGCTAAGTGCCCAGGGTAAATGAGATCTTTAATTTGAAAAGAGATTTTTGATTTGATGAATGTACATTCTCCAAAGGGTCATAAATTGTCATTCTGGATGTTTGATCTGTTTGTTGTTTTGGTACAAAAATTAGAAGAAAATAATTCACTCATAAAATGTTAAATAATGAACTAAAAGTCATTCATCAAGTCCATAACTTAGGGTCACATTTGTCCTTGGAGCAGGAGAAAGAGTTGTGTTCACCCTTTTCTTACTTTTGCTTTTGTCCTAAGTGCTTCAGAGAAGTACAGGGTGGCAACAGTGTTTCTACTGAGCAGCTGATACCATTGCTATGCACTCATTCATTATGCAGGAAACATTTAGTAATTTCAACATAAATATGGGACTCTGACGTTCTCCTCTTCATTTTGCAGAGCAGTCATTATGGCGAACCTTGGCTGCTGGATGCTGGTTCTCTTTGTGGCCACATGGAGTGACCTGGGCCTCTGCAAGAAGCGCCCGAAGCCTGGAGGATGGAACACTGGGGGCAGCCGATACCCGGGGCAGGGCAGCCCTGGAGGCAACCGCTACCCACCTCAGGGCGGTGGTGGCTGGGGGCAGCCTCATGGTGGTGGCTGGGGGCAGCCTCATGGTGGTGGCTGGGGGCAGCCCCATGGTGGTGGCTGGGGACAGCCTCATGGTGGTGGCTGGGGTCAAGGAGGTGGCACCCACAGTCAGTGGAACAAGCCGAGTAAGCCAAAAACCAACATGAAGCACATGGCTGGTGCTGCAGCAGCTGGGGCAGTGGTGGGGGGCCTTGGCGGCTACATGCTGGGAAGTGCCATGAGCAGGCCCATCATACATTTCGGCAGTGACTATGAGGACCGTTACTATCGTGAAAACATGCACCGTTACCCCAACCAAGTGTACTACAGGCCCATGGATGAGTACAGCAACCAGAACAACTTTGTGCACGACTGCGTCAATATCACAATCAAGCAGCACACGGTCACCACAACCACCAAGGGGGAGAACTTCACCGAGACCGACGTTAAGATGATGGAGCGCGTGGTTGAGCAGATGTGTATCACCCAGTACGAGAGGGAATCTCAGGCCTATTACCAGAGAGGATCGAGCATGGTCCTCTTCTCCTCTCCACCTGTGATCCTCCTGATCTCTTTCCTCATCTTCCTGATAGTGGGATGAGGAAGGTCTTCCTGTTTTCACCATCTTTCTAATCTTTTTCCAGCTTGAGGGAGGCGGTATCCACCTGCAGCCCTTTTAGTGGTGGTGTCTCACTCTTTCTTCTCTCTTTGTCCCGGATAGGCTAATCAATACCCTTGGCACTGATGGGCACTGGAAAACATAGAGTAGACCTGAGATGCTGGTCAAGCCCCCTTTGATTGAGTTCATCATGAGCCGTTGCTAATGCCAGGCCAGTAAAAGTATAACAGCAAATAACCATTGGTTAATCTGGACTTATTTTTGGACTTAGTGCAACAGGTTGAGGCTAAAACAAATCTCAGAACAGTCTGAAATACCTTTGCCTGGATACCTCTGGCTCCTTCAGCAGCTAGAGCTCAGTATACTAATGCCCTATCTTAGTAGAGATTTCATAGCTATTTAGAGATATTTTCCATTTTAAGAAAACCCGACAACATTTCTGCCAGGTTTGTTAGGAGGCCACATGATACTTATTCAAAAAAATCCTAGAGATTCTTAGCTCTTGGGATGCAGGCTCAGCCCGCTGGAGCATGAGCTCTGTGTGTACCGAGAACTGGGGTGATGTTTTACTTTTCACAGTATGGGCTACACAGCAGCTGTTCAACAAGAGTAAATATTGTCACAACACTGAACCTCTGGCTAGAGGACATATTCACAGTGAACATAACTGTAACATATATGAAAGGCTTCTGGGACTTGAAATCAAATGTTTGGGAATGGTGCCCTTGGAGGCAACCTCCCATTTTAGATGTTTAAAGGACCCTATATGTGGCATTCCTTTCTTTAAACTATAGGTAATTAAGGCAGCTGAAAAGTAAATTGCCTTCTAGACACTGAAGGCAAATCTCCTTTGTCCATTTACCTGGAAACCAGAATGATTTTGACATACAGGAGAGCTGCAGTTGTGAAAGCACCATCATCATAGAGGATGATGTAATTAAAAAATGGTCAGTGTGCAAAGAAAAGAACTGCTTGCATTTCTTTATTTCTGTCTCATAATTGTCAAAAACCAGAATTAGGTCAAGTTCATAGTTTCTGTAATTGGCTTTTGAATCAAAGAATAGGGAGACAATCTAAAAAATATCTTAGGTTGGAGATGACAGAAATATGATTGATTTGAAGTGGAAAAAGAAATTCTGTTAATGTTAATTAAAGTAAAATTATTCCCTGAATTGTTTGATATTGTCACCTAGCAGATATGTATTACTTTTCTGCAATGTTATTATTGGCTTGCACTTTGTGAGTATTCTATGTAAAAATATATATGTATATAAAATATATATTGCATAGGACAGACTTAGGAGTTTTGTTTAGAGCAGTTAACATCTGAAGTGTCTAATGCATTAACTTTTGTAAGGTACTGAATACTTAATATGTGGGAAACCCTTTTGCGTGGTCCTTAGGCTTACAATGTGCACTGAATCGTTTCATGTAAGAATCCAAAGTGGACACCATTAACAGGTCTTTGAAATATGCATGTACTTTATATTTTCTATATTTGTAACTTTGCATGTTCTTGTTTTGTTATATAAAAAAATTGTAAATGTTTAATATCTGACTGAAATTAAACGAGCGAAGATGAGCACCACCTCCCGTGTCTGCAGTTGTATTTCCTGGTGCTTGCCCTGTGTTGGGGACTGTTTTGGGGGTTAATCTGAGCCAAGT
AACAGCCCTGAGACAGGATGGGCTTGTCAGTTTGAGGAGCAGTGGGAGGCCTGAACCAGGTTACATGGGGCCCAGCCAGTATGGCCACGACTTTGTGTTTTATCCAGAGTACAAAGGAGCCTCACTGAGGGACAAGGGAAGTGGCATGATGTGACCCGCATATTAAGAGGAGAGCGCTCAATGGCAGCCAGGGGAGGAGCAGGGAGGCTGGTTGGGAGGCTGTTGAAGAAATCAGGTGAGAAGTGATGGAAGCACCGAATAAGATGGTCATGTTGGAAAAATTGAGAAGCTGAGGTGCTTAGCATTGATTTTCAAGGTAGAGCTACTGAGATTTGCTGATAGATCCAATGTATGCTGGGAGAGAAAATTCAGTCACTCTAGAGCATTGGCTGGATTTGTCACCCATTGCAGCGAATGGAGAAGGTGCTGACATAAAAGCCCTTTAGACTGAAAGCTACTGACTGAGGGGATGGTGCCCTAGTTTGATTTCCTGGGGTGTATGAGTAGCAGGGAGGCCAAGAGCTGGGCCTCACGAGATTGTGGGGACTACATCAGGGAAGCAGGCCTGCAAAGAACCTGCACCACAGACCCCCACCTAAAAGAGCCTCCAAAAACCCTAACTGGCATGACCTGAGTACTTTAACTCTGCTTGTAACTTTCAAATATATTTTGATTTGCTTATGACCACCAAGGCAAAACTTCCCATTTCAATAATGTTAGTAGAAACATAAACAGGATGTTAATTTATTTATTTGGTAATTCTTTTTATGAATATTATCCAGTTTAATCATTAGCTCTGAAGGAGATGAAAAATAATTTTCTAATTTTTAGAAAAATTTGCAGCTAATTGGGTGATAAAGGTAAGGGGTTTCTGAGTTCACAAAAATGTTCTAAAATTGGCAACAGTTTCGGTTGCACGTTTCATTAAATGTACTAAAAACCATTGAACTGTACATGGTATATGGTGAATTATATGGTATGTGAATTATATCTCAACAAGCTGGGTATTGTTTTTTTAAAAAATAAAAATAAAAAAGGAGAAAGAGAGAGAGAAAAACAATTGCAGATCATCCCAGCACTGAGGACAAGACTAACTTCAGTGTTCCAGTATATGCCATTATAGGTTTTACGGCACACAGTGATGATTTGGAGCCTATGATTTGACCTAGGGTACAGCAGGTACTGTTTAGCAATCATTTTACTATTGTCATAGGTCTCTGCTCTTGGAGCTAAGTGCCCAGGGTAAATGAGATCTTTAATTTGAAAAGAGATTTTTGATTTGATGAATGTACATTCTCCAAAGGGTCATAAATTGTCATTCTGGATGTTTGATCTGTTTGTTGTTTTGGTACAAAAATTAGAAGAAAATAATTCACTCATAAAATGTTAAATAATGAACTAAAAGTCATTCATCAAGTCCATAACTTAGGGTCACATTTGTCCTTGGAGCAGGAGAAAGAGTTGTGTTCACCCTTTTCTTACTTTTGCTTTTGTCCTAAGTGCTTCAGAGAAGTACAGGGTGGCAACAGTGTTTCTACTGAGCAGCTGATACCATTGCTATGCACTCATTCATTATGCAGGAAACATTTAGTAATTTCAACATAAATATGGGACTCTGACGTTCTCCTCTTCATTTTGCAGAGCAGTCATTATGGCGAACCTTGGCTGCTGGATGCTGGTTCTCTTTGTGGCCACATGGAGTGACCTGGGCCTCTGCAAGAAGCGCCCGAAGCCTGGAGGATGGAACACTGGGGGCAGCCGATACCCGGGGCAGGGCAGCCCTGGAGGCAACCGCTACCCACCTCAGGGCGGTGGTGGCTGGGGGCAGCCTCATGGTGGTGGCTGGGGGCAGCCTCATGGTGGTGGCTGGGGGCAGCCCCATGGTGGTGGCTGGGGACAGCCTCATGGTGGTGGCTGGGGTCAAGGAGGTGGCACCCACAGTCAGTGGAACAAGCCGAGTAAGCCAAAAACCAACATGAAGCACATGGCTGGTGCTGCAGCAGCTGGGGCAGTGGTGGGGGGCCTTGGCGGCTACATGCTGGGAAGTGTCATGAGCAGGCCCATCATACATTTCGGCAGTGACTATGAGGACCGTTACTATCGTGAAAACATGCACCGTTACCCCAACCAAGTGTACTACAGGCCCATGGATGAGTACAGCAACCAGAACAACTTTGTGCACGACTGCGTCAATATCACAATCAAGCAGCACACGGTCACCACAACCACCAAGGGGGAGAACTTCACCGAGACCGACGTTAAGATGATGGAGCGCGTGGTTGAGCAGATGTGTATCACCCAGTACGAGAGGGAATCTCAGGCCTATTACCAGAGAGGATCGAGCATGGTCCTCTTCTCCTCTCCACCTGTGATCCTCCTGATCTCTTTCCTCATCTTCCTGATAGTGGGATGAGGAAGGTCTTCCTGTTTTCACCATCTTTCTAATCTTTTTCCAGCTTGAGGGAGGCGGTATCCACCTGCAGCCCTTTTAGTGGTGGTGTCTCACTCTTTCTTCTCTCTTTGTCCCGGATAGGCTAATCAATACCCTTGGCACTGATGGGCACTGGAAAACATAGAGTAGACCTGAGATGCTGGTCAAGCCCCCTTTGATTGAGTTCATCATGAGCCGTTGCTAATGCCAGGCCAGTAAAAGTATAACAGCAAATAACCATTGGTTAATCTGGACTTATTTTTGGACTTAGTGCAACAGGTTGAGGCTAAAACAAATCTCAGAACAGTCTGAAATACCTTTGCCTGGATACCTCTGGCTCCTTCAGCAGCTAGAGCTCAGTATACTAATGCCCTATCTTAGTAGAGATTTCATAGCTATTTAGAGATATTTTCCATTTTAAGAAAACCCGACAACATTTCTGCCAGGTTTGTTAGGAGGCCACATGATACTTATTCAAAAAAATCCTAGAGATTCTTAGCTCTTGGGATGCAGGCTCAGCCCGCTGGAGCATGAGCTCTGTGTGTACCGAGAACTGGGGTGATGTTTTACTTTTCACAGTATGGGCTACACAGCAGCTGTTCAACAAGAGTAAATATTGTCACAACACTGAACCTCTGGCTAGAGGACATATTCACAGTGAACATAACTGTAACATATATGAAAGGCTTCTGGGACTTGAAATCAAATGTTTGGGAATGGTGCCCTTGGAGGCAACCTCCCATTTTAGATGTTTAAAGGACCCTATATGTGGCATTCCTTTCTTTAAACTATAGGTAATTAAGGCAGCTGAAAAGTAAATTGCCTTCTAGACACTGAAGGCAAATCTCCTTTGTCCATTTACCTGGAAACCAGAATGATTTTGACATACAGGAGAGCTGCAGTTGTGAAAGCACCATCATCATAGAGGATGATGTAATTAAAAAATGGTCAGTGTGCAAAGAAAAGAACTGCTTGCATTTCTTTATTTCTGTCTCATAATTGTCAAAAACCAGAATTAGGTCAAGTTCATAGTTTCTGTAATTGGCTTTTGAATCAAAGAATAGGGAGACAATCTAAAAAATATCTTAGGTTGGAGATGACAGAAATATGATTGATTTGAAGTGGAAAAAGAAATTCTGTTAATGTTAATTAAAGTAAAATTATTCCCTGAATTGTTTGATATTGTCACCTAGCAGATATGTATTACTTTTCTGCAATGTTATTATTGGCTTGCACTTTGTGAGTATTCTATGTAAAAATATATATGTATATAAAATATATATTGCATAGGACAGACTTAGGAGTTTTGTTTAGAGCAGTTAACATCTGAAGTGTCTAATGCATTAACTTTTGTAAGGTACTGAATACTTAATATGTGGGAAACCCTTTTGCGTGGTCCTTAGGCTTACAATGTGCACTGAATCGTTTCATGTAAGAATCCAAAGTGGACACCATTAACAGGTCTTTGAAATATGCATGTACTTTATATTTTCTATATTTGTAACTTTGCATGTTCTTGTTTTGTTATATAAAAAAATTGTAAATGTTTAATATCTGACTGAAATTAAACGAGCGAAGATGAGCACCACCTCCCGTGTCTGCAGTTGTATTTCCTGGTGCTTGCCCTGTGTTGGGGACTGTTTTGGGGGTTAATCTGAGCCAAGT
Task1_train_27687
A genomic change on Chromosome 20 affects PRNP (prion protein (Kanno blood group)). Classify this variant as benign or pathogenic, and name the disease if relevant.
Pathogenic; Huntington disease-like 1
AGGGAAGTGGCATGATGTGACCCGCATATTAAGAGGAGAGCGCTCAATGGCAGCCAGGGGAGGAGCAGGGAGGCTGGTTGGGAGGCTGTTGAAGAAATCAGGTGAGAAGTGATGGAAGCACCGAATAAGATGGTCATGTTGGAAAAATTGAGAAGCTGAGGTGCTTAGCATTGATTTTCAAGGTAGAGCTACTGAGATTTGCTGATAGATCCAATGTATGCTGGGAGAGAAAATTCAGTCACTCTAGAGCATTGGCTGGATTTGTCACCCATTGCAGCGAATGGAGAAGGTGCTGACATAAAAGCCCTTTAGACTGAAAGCTACTGACTGAGGGGATGGTGCCCTAGTTTGATTTCCTGGGGTGTATGAGTAGCAGGGAGGCCAAGAGCTGGGCCTCACGAGATTGTGGGGACTACATCAGGGAAGCAGGCCTGCAAAGAACCTGCACCACAGACCCCCACCTAAAAGAGCCTCCAAAAACCCTAACTGGCATGACCTGAGTACTTTAACTCTGCTTGTAACTTTCAAATATATTTTGATTTGCTTATGACCACCAAGGCAAAACTTCCCATTTCAATAATGTTAGTAGAAACATAAACAGGATGTTAATTTATTTATTTGGTAATTCTTTTTATGAATATTATCCAGTTTAATCATTAGCTCTGAAGGAGATGAAAAATAATTTTCTAATTTTTAGAAAAATTTGCAGCTAATTGGGTGATAAAGGTAAGGGGTTTCTGAGTTCACAAAAATGTTCTAAAATTGGCAACAGTTTCGGTTGCACGTTTCATTAAATGTACTAAAAACCATTGAACTGTACATGGTATATGGTGAATTATATGGTATGTGAATTATATCTCAACAAGCTGGGTATTGTTTTTTTAAAAAATAAAAATAAAAAAGGAGAAAGAGAGAGAGAAAAACAATTGCAGATCATCCCAGCACTGAGGACAAGACTAACTTCAGTGTTCCAGTATATGCCATTATAGGTTTTACGGCACACAGTGATGATTTGGAGCCTATGATTTGACCTAGGGTACAGCAGGTACTGTTTAGCAATCATTTTACTATTGTCATAGGTCTCTGCTCTTGGAGCTAAGTGCCCAGGGTAAATGAGATCTTTAATTTGAAAAGAGATTTTTGATTTGATGAATGTACATTCTCCAAAGGGTCATAAATTGTCATTCTGGATGTTTGATCTGTTTGTTGTTTTGGTACAAAAATTAGAAGAAAATAATTCACTCATAAAATGTTAAATAATGAACTAAAAGTCATTCATCAAGTCCATAACTTAGGGTCACATTTGTCCTTGGAGCAGGAGAAAGAGTTGTGTTCACCCTTTTCTTACTTTTGCTTTTGTCCTAAGTGCTTCAGAGAAGTACAGGGTGGCAACAGTGTTTCTACTGAGCAGCTGATACCATTGCTATGCACTCATTCATTATGCAGGAAACATTTAGTAATTTCAACATAAATATGGGACTCTGACGTTCTCCTCTTCATTTTGCAGAGCAGTCATTATGGCGAACCTTGGCTGCTGGATGCTGGTTCTCTTTGTGGCCACATGGAGTGACCTGGGCCTCTGCAAGAAGCGCCCGAAGCCTGGAGGATGGAACACTGGGGGCAGCCGATACCCGGGGCAGGGCAGCCCTGGAGGCAACCGCTACCCACCTCAGGGCGGTGGTGGCTGGGGGCAGCCTCATGGTGGTGGCTGGGGGCAGCCTCATGGTGGTGGCTGGGGGCAGCCCCATGGTGGTGGCTGGGGACAGCCTCATGGTGGTGGCTGGGGTCAAGGAGGTGGCACCCACAGTCAGTGGAACAAGCCGAGTAAGCCAAAAACCAACATGAAGCACATGGCTGGTGCTGCAGCAGCTGGGGCAGTGGTGGGGGGCCTTGGCGGCTACATGCTGGGAAGTGCCATGAGCAGGCCCATCATACATTTCGGCAGTGACTATGAGGACCGTTACTATCGTGAAAACATGCACCGTTACCCCAACCAAGTGTACTACAGGCCCATGGATGAGTACAGCAACCAGAACAACTTTGTGCACGACTGCGTCAATATCACAATCAAGCAGCACACGGTCACCACAACCACCAAGGGGGAGAACTTCACCGAGACCGACGTTAAGATGATGGAGCGCGTGGTTGAGCAGATGTGTATCACCCAGTACGAGAGGGAATCTCAGGCCTATTACCAGAGAGGATCGAGCATGGTCCTCTTCTCCTCTCCACCTGTGATCCTCCTGATCTCTTTCCTCATCTTCCTGATAGTGGGATGAGGAAGGTCTTCCTGTTTTCACCATCTTTCTAATCTTTTTCCAGCTTGAGGGAGGCGGTATCCACCTGCAGCCCTTTTAGTGGTGGTGTCTCACTCTTTCTTCTCTCTTTGTCCCGGATAGGCTAATCAATACCCTTGGCACTGATGGGCACTGGAAAACATAGAGTAGACCTGAGATGCTGGTCAAGCCCCCTTTGATTGAGTTCATCATGAGCCGTTGCTAATGCCAGGCCAGTAAAAGTATAACAGCAAATAACCATTGGTTAATCTGGACTTATTTTTGGACTTAGTGCAACAGGTTGAGGCTAAAACAAATCTCAGAACAGTCTGAAATACCTTTGCCTGGATACCTCTGGCTCCTTCAGCAGCTAGAGCTCAGTATACTAATGCCCTATCTTAGTAGAGATTTCATAGCTATTTAGAGATATTTTCCATTTTAAGAAAACCCGACAACATTTCTGCCAGGTTTGTTAGGAGGCCACATGATACTTATTCAAAAAAATCCTAGAGATTCTTAGCTCTTGGGATGCAGGCTCAGCCCGCTGGAGCATGAGCTCTGTGTGTACCGAGAACTGGGGTGATGTTTTACTTTTCACAGTATGGGCTACACAGCAGCTGTTCAACAAGAGTAAATATTGTCACAACACTGAACCTCTGGCTAGAGGACATATTCACAGTGAACATAACTGTAACATATATGAAAGGCTTCTGGGACTTGAAATCAAATGTTTGGGAATGGTGCCCTTGGAGGCAACCTCCCATTTTAGATGTTTAAAGGACCCTATATGTGGCATTCCTTTCTTTAAACTATAGGTAATTAAGGCAGCTGAAAAGTAAATTGCCTTCTAGACACTGAAGGCAAATCTCCTTTGTCCATTTACCTGGAAACCAGAATGATTTTGACATACAGGAGAGCTGCAGTTGTGAAAGCACCATCATCATAGAGGATGATGTAATTAAAAAATGGTCAGTGTGCAAAGAAAAGAACTGCTTGCATTTCTTTATTTCTGTCTCATAATTGTCAAAAACCAGAATTAGGTCAAGTTCATAGTTTCTGTAATTGGCTTTTGAATCAAAGAATAGGGAGACAATCTAAAAAATATCTTAGGTTGGAGATGACAGAAATATGATTGATTTGAAGTGGAAAAAGAAATTCTGTTAATGTTAATTAAAGTAAAATTATTCCCTGAATTGTTTGATATTGTCACCTAGCAGATATGTATTACTTTTCTGCAATGTTATTATTGGCTTGCACTTTGTGAGTATTCTATGTAAAAATATATATGTATATAAAATATATATTGCATAGGACAGACTTAGGAGTTTTGTTTAGAGCAGTTAACATCTGAAGTGTCTAATGCATTAACTTTTGTAAGGTACTGAATACTTAATATGTGGGAAACCCTTTTGCGTGGTCCTTAGGCTTACAATGTGCACTGAATCGTTTCATGTAAGAATCCAAAGTGGACACCATTAACAGGTCTTTGAAATATGCATGTACTTTATATTTTCTATATTTGTAACTTTGCATGTTCTTGTTTTGTTATATAAAAAAATTGTAAATGTTTAATATCTGACTGAAATTAAACGAGCGAAGATGAGCACCACCTCCCGTGTCTGCAGTTGTATTTCCTGGTGCTTGCCCTGTGTTGGGGACTGTTTTGGGGGTTAATCTGAGCCAAGTGGCGCTTTCTGTCCTCCCTTCTCAAGTGATGGCCGATGGTTCACGCACTTCCCCCTGTTCCTGCCCTTGTCCTCACTTCCCAGTCACCCACTAGTTCATCTCTGCGGCTTTTGCATTTTCTCCACAAGCATCTA
AGGGAAGTGGCATGATGTGACCCGCATATTAAGAGGAGAGCGCTCAATGGCAGCCAGGGGAGGAGCAGGGAGGCTGGTTGGGAGGCTGTTGAAGAAATCAGGTGAGAAGTGATGGAAGCACCGAATAAGATGGTCATGTTGGAAAAATTGAGAAGCTGAGGTGCTTAGCATTGATTTTCAAGGTAGAGCTACTGAGATTTGCTGATAGATCCAATGTATGCTGGGAGAGAAAATTCAGTCACTCTAGAGCATTGGCTGGATTTGTCACCCATTGCAGCGAATGGAGAAGGTGCTGACATAAAAGCCCTTTAGACTGAAAGCTACTGACTGAGGGGATGGTGCCCTAGTTTGATTTCCTGGGGTGTATGAGTAGCAGGGAGGCCAAGAGCTGGGCCTCACGAGATTGTGGGGACTACATCAGGGAAGCAGGCCTGCAAAGAACCTGCACCACAGACCCCCACCTAAAAGAGCCTCCAAAAACCCTAACTGGCATGACCTGAGTACTTTAACTCTGCTTGTAACTTTCAAATATATTTTGATTTGCTTATGACCACCAAGGCAAAACTTCCCATTTCAATAATGTTAGTAGAAACATAAACAGGATGTTAATTTATTTATTTGGTAATTCTTTTTATGAATATTATCCAGTTTAATCATTAGCTCTGAAGGAGATGAAAAATAATTTTCTAATTTTTAGAAAAATTTGCAGCTAATTGGGTGATAAAGGTAAGGGGTTTCTGAGTTCACAAAAATGTTCTAAAATTGGCAACAGTTTCGGTTGCACGTTTCATTAAATGTACTAAAAACCATTGAACTGTACATGGTATATGGTGAATTATATGGTATGTGAATTATATCTCAACAAGCTGGGTATTGTTTTTTTAAAAAATAAAAATAAAAAAGGAGAAAGAGAGAGAGAAAAACAATTGCAGATCATCCCAGCACTGAGGACAAGACTAACTTCAGTGTTCCAGTATATGCCATTATAGGTTTTACGGCACACAGTGATGATTTGGAGCCTATGATTTGACCTAGGGTACAGCAGGTACTGTTTAGCAATCATTTTACTATTGTCATAGGTCTCTGCTCTTGGAGCTAAGTGCCCAGGGTAAATGAGATCTTTAATTTGAAAAGAGATTTTTGATTTGATGAATGTACATTCTCCAAAGGGTCATAAATTGTCATTCTGGATGTTTGATCTGTTTGTTGTTTTGGTACAAAAATTAGAAGAAAATAATTCACTCATAAAATGTTAAATAATGAACTAAAAGTCATTCATCAAGTCCATAACTTAGGGTCACATTTGTCCTTGGAGCAGGAGAAAGAGTTGTGTTCACCCTTTTCTTACTTTTGCTTTTGTCCTAAGTGCTTCAGAGAAGTACAGGGTGGCAACAGTGTTTCTACTGAGCAGCTGATACCATTGCTATGCACTCATTCATTATGCAGGAAACATTTAGTAATTTCAACATAAATATGGGACTCTGACGTTCTCCTCTTCATTTTGCAGAGCAGTCATTATGGCGAACCTTGGCTGCTGGATGCTGGTTCTCTTTGTGGCCACATGGAGTGACCTGGGCCTCTGCAAGAAGCGCCCGAAGCCTGGAGGATGGAACACTGGGGGCAGCCGATACCCGGGGCAGGGCAGCCCTGGAGGCAACCGCTACCCACCTCAGGGCGGTGGTGGCTGGGGGCAGCCTCATGGTGGTGGCTGGGGGCAGCCTCATGGTGGTGGCTGGGGGCAGCCCCATGGTGGTGGCTGGGGACAGCCTCATGGTGGTGGCTGGGGTCAAGGAGGTGGCACCCACAGTCAGTGGAACAAGCCGAGTAAGCCAAAAACCAACATGAAGCACATGGCTGGTGCTGCAGCAGCTGGGGCAGTGGTGGGGGGCCTTGGCGGCTACATGCTGGGAAGTGCCATGAGCAGGCCCATCATACATTTCGGCAGTGACTATGAGGACCGTTACTATCGTGAAAACATGCACCGTTACCCCAACCAAGTGTACTACAGGCCCATGGATGAGTACAGCAACCAGAACAACTTTGTGCACAACTGCGTCAATATCACAATCAAGCAGCACACGGTCACCACAACCACCAAGGGGGAGAACTTCACCGAGACCGACGTTAAGATGATGGAGCGCGTGGTTGAGCAGATGTGTATCACCCAGTACGAGAGGGAATCTCAGGCCTATTACCAGAGAGGATCGAGCATGGTCCTCTTCTCCTCTCCACCTGTGATCCTCCTGATCTCTTTCCTCATCTTCCTGATAGTGGGATGAGGAAGGTCTTCCTGTTTTCACCATCTTTCTAATCTTTTTCCAGCTTGAGGGAGGCGGTATCCACCTGCAGCCCTTTTAGTGGTGGTGTCTCACTCTTTCTTCTCTCTTTGTCCCGGATAGGCTAATCAATACCCTTGGCACTGATGGGCACTGGAAAACATAGAGTAGACCTGAGATGCTGGTCAAGCCCCCTTTGATTGAGTTCATCATGAGCCGTTGCTAATGCCAGGCCAGTAAAAGTATAACAGCAAATAACCATTGGTTAATCTGGACTTATTTTTGGACTTAGTGCAACAGGTTGAGGCTAAAACAAATCTCAGAACAGTCTGAAATACCTTTGCCTGGATACCTCTGGCTCCTTCAGCAGCTAGAGCTCAGTATACTAATGCCCTATCTTAGTAGAGATTTCATAGCTATTTAGAGATATTTTCCATTTTAAGAAAACCCGACAACATTTCTGCCAGGTTTGTTAGGAGGCCACATGATACTTATTCAAAAAAATCCTAGAGATTCTTAGCTCTTGGGATGCAGGCTCAGCCCGCTGGAGCATGAGCTCTGTGTGTACCGAGAACTGGGGTGATGTTTTACTTTTCACAGTATGGGCTACACAGCAGCTGTTCAACAAGAGTAAATATTGTCACAACACTGAACCTCTGGCTAGAGGACATATTCACAGTGAACATAACTGTAACATATATGAAAGGCTTCTGGGACTTGAAATCAAATGTTTGGGAATGGTGCCCTTGGAGGCAACCTCCCATTTTAGATGTTTAAAGGACCCTATATGTGGCATTCCTTTCTTTAAACTATAGGTAATTAAGGCAGCTGAAAAGTAAATTGCCTTCTAGACACTGAAGGCAAATCTCCTTTGTCCATTTACCTGGAAACCAGAATGATTTTGACATACAGGAGAGCTGCAGTTGTGAAAGCACCATCATCATAGAGGATGATGTAATTAAAAAATGGTCAGTGTGCAAAGAAAAGAACTGCTTGCATTTCTTTATTTCTGTCTCATAATTGTCAAAAACCAGAATTAGGTCAAGTTCATAGTTTCTGTAATTGGCTTTTGAATCAAAGAATAGGGAGACAATCTAAAAAATATCTTAGGTTGGAGATGACAGAAATATGATTGATTTGAAGTGGAAAAAGAAATTCTGTTAATGTTAATTAAAGTAAAATTATTCCCTGAATTGTTTGATATTGTCACCTAGCAGATATGTATTACTTTTCTGCAATGTTATTATTGGCTTGCACTTTGTGAGTATTCTATGTAAAAATATATATGTATATAAAATATATATTGCATAGGACAGACTTAGGAGTTTTGTTTAGAGCAGTTAACATCTGAAGTGTCTAATGCATTAACTTTTGTAAGGTACTGAATACTTAATATGTGGGAAACCCTTTTGCGTGGTCCTTAGGCTTACAATGTGCACTGAATCGTTTCATGTAAGAATCCAAAGTGGACACCATTAACAGGTCTTTGAAATATGCATGTACTTTATATTTTCTATATTTGTAACTTTGCATGTTCTTGTTTTGTTATATAAAAAAATTGTAAATGTTTAATATCTGACTGAAATTAAACGAGCGAAGATGAGCACCACCTCCCGTGTCTGCAGTTGTATTTCCTGGTGCTTGCCCTGTGTTGGGGACTGTTTTGGGGGTTAATCTGAGCCAAGTGGCGCTTTCTGTCCTCCCTTCTCAAGTGATGGCCGATGGTTCACGCACTTCCCCCTGTTCCTGCCCTTGTCCTCACTTCCCAGTCACCCACTAGTTCATCTCTGCGGCTTTTGCATTTTCTCCACAAGCATCTA
Task1_train_27688
This variant impacts the gene PRNP (prion protein (Kanno blood group)) on Chromosome 20. Is the change likely to result in a pathogenic outcome?
Pathogenic; Fatal familial insomnia
AGGGAAGTGGCATGATGTGACCCGCATATTAAGAGGAGAGCGCTCAATGGCAGCCAGGGGAGGAGCAGGGAGGCTGGTTGGGAGGCTGTTGAAGAAATCAGGTGAGAAGTGATGGAAGCACCGAATAAGATGGTCATGTTGGAAAAATTGAGAAGCTGAGGTGCTTAGCATTGATTTTCAAGGTAGAGCTACTGAGATTTGCTGATAGATCCAATGTATGCTGGGAGAGAAAATTCAGTCACTCTAGAGCATTGGCTGGATTTGTCACCCATTGCAGCGAATGGAGAAGGTGCTGACATAAAAGCCCTTTAGACTGAAAGCTACTGACTGAGGGGATGGTGCCCTAGTTTGATTTCCTGGGGTGTATGAGTAGCAGGGAGGCCAAGAGCTGGGCCTCACGAGATTGTGGGGACTACATCAGGGAAGCAGGCCTGCAAAGAACCTGCACCACAGACCCCCACCTAAAAGAGCCTCCAAAAACCCTAACTGGCATGACCTGAGTACTTTAACTCTGCTTGTAACTTTCAAATATATTTTGATTTGCTTATGACCACCAAGGCAAAACTTCCCATTTCAATAATGTTAGTAGAAACATAAACAGGATGTTAATTTATTTATTTGGTAATTCTTTTTATGAATATTATCCAGTTTAATCATTAGCTCTGAAGGAGATGAAAAATAATTTTCTAATTTTTAGAAAAATTTGCAGCTAATTGGGTGATAAAGGTAAGGGGTTTCTGAGTTCACAAAAATGTTCTAAAATTGGCAACAGTTTCGGTTGCACGTTTCATTAAATGTACTAAAAACCATTGAACTGTACATGGTATATGGTGAATTATATGGTATGTGAATTATATCTCAACAAGCTGGGTATTGTTTTTTTAAAAAATAAAAATAAAAAAGGAGAAAGAGAGAGAGAAAAACAATTGCAGATCATCCCAGCACTGAGGACAAGACTAACTTCAGTGTTCCAGTATATGCCATTATAGGTTTTACGGCACACAGTGATGATTTGGAGCCTATGATTTGACCTAGGGTACAGCAGGTACTGTTTAGCAATCATTTTACTATTGTCATAGGTCTCTGCTCTTGGAGCTAAGTGCCCAGGGTAAATGAGATCTTTAATTTGAAAAGAGATTTTTGATTTGATGAATGTACATTCTCCAAAGGGTCATAAATTGTCATTCTGGATGTTTGATCTGTTTGTTGTTTTGGTACAAAAATTAGAAGAAAATAATTCACTCATAAAATGTTAAATAATGAACTAAAAGTCATTCATCAAGTCCATAACTTAGGGTCACATTTGTCCTTGGAGCAGGAGAAAGAGTTGTGTTCACCCTTTTCTTACTTTTGCTTTTGTCCTAAGTGCTTCAGAGAAGTACAGGGTGGCAACAGTGTTTCTACTGAGCAGCTGATACCATTGCTATGCACTCATTCATTATGCAGGAAACATTTAGTAATTTCAACATAAATATGGGACTCTGACGTTCTCCTCTTCATTTTGCAGAGCAGTCATTATGGCGAACCTTGGCTGCTGGATGCTGGTTCTCTTTGTGGCCACATGGAGTGACCTGGGCCTCTGCAAGAAGCGCCCGAAGCCTGGAGGATGGAACACTGGGGGCAGCCGATACCCGGGGCAGGGCAGCCCTGGAGGCAACCGCTACCCACCTCAGGGCGGTGGTGGCTGGGGGCAGCCTCATGGTGGTGGCTGGGGGCAGCCTCATGGTGGTGGCTGGGGGCAGCCCCATGGTGGTGGCTGGGGACAGCCTCATGGTGGTGGCTGGGGTCAAGGAGGTGGCACCCACAGTCAGTGGAACAAGCCGAGTAAGCCAAAAACCAACATGAAGCACATGGCTGGTGCTGCAGCAGCTGGGGCAGTGGTGGGGGGCCTTGGCGGCTACATGCTGGGAAGTGCCATGAGCAGGCCCATCATACATTTCGGCAGTGACTATGAGGACCGTTACTATCGTGAAAACATGCACCGTTACCCCAACCAAGTGTACTACAGGCCCATGGATGAGTACAGCAACCAGAACAACTTTGTGCACGACTGCGTCAATATCACAATCAAGCAGCACACGGTCACCACAACCACCAAGGGGGAGAACTTCACCGAGACCGACGTTAAGATGATGGAGCGCGTGGTTGAGCAGATGTGTATCACCCAGTACGAGAGGGAATCTCAGGCCTATTACCAGAGAGGATCGAGCATGGTCCTCTTCTCCTCTCCACCTGTGATCCTCCTGATCTCTTTCCTCATCTTCCTGATAGTGGGATGAGGAAGGTCTTCCTGTTTTCACCATCTTTCTAATCTTTTTCCAGCTTGAGGGAGGCGGTATCCACCTGCAGCCCTTTTAGTGGTGGTGTCTCACTCTTTCTTCTCTCTTTGTCCCGGATAGGCTAATCAATACCCTTGGCACTGATGGGCACTGGAAAACATAGAGTAGACCTGAGATGCTGGTCAAGCCCCCTTTGATTGAGTTCATCATGAGCCGTTGCTAATGCCAGGCCAGTAAAAGTATAACAGCAAATAACCATTGGTTAATCTGGACTTATTTTTGGACTTAGTGCAACAGGTTGAGGCTAAAACAAATCTCAGAACAGTCTGAAATACCTTTGCCTGGATACCTCTGGCTCCTTCAGCAGCTAGAGCTCAGTATACTAATGCCCTATCTTAGTAGAGATTTCATAGCTATTTAGAGATATTTTCCATTTTAAGAAAACCCGACAACATTTCTGCCAGGTTTGTTAGGAGGCCACATGATACTTATTCAAAAAAATCCTAGAGATTCTTAGCTCTTGGGATGCAGGCTCAGCCCGCTGGAGCATGAGCTCTGTGTGTACCGAGAACTGGGGTGATGTTTTACTTTTCACAGTATGGGCTACACAGCAGCTGTTCAACAAGAGTAAATATTGTCACAACACTGAACCTCTGGCTAGAGGACATATTCACAGTGAACATAACTGTAACATATATGAAAGGCTTCTGGGACTTGAAATCAAATGTTTGGGAATGGTGCCCTTGGAGGCAACCTCCCATTTTAGATGTTTAAAGGACCCTATATGTGGCATTCCTTTCTTTAAACTATAGGTAATTAAGGCAGCTGAAAAGTAAATTGCCTTCTAGACACTGAAGGCAAATCTCCTTTGTCCATTTACCTGGAAACCAGAATGATTTTGACATACAGGAGAGCTGCAGTTGTGAAAGCACCATCATCATAGAGGATGATGTAATTAAAAAATGGTCAGTGTGCAAAGAAAAGAACTGCTTGCATTTCTTTATTTCTGTCTCATAATTGTCAAAAACCAGAATTAGGTCAAGTTCATAGTTTCTGTAATTGGCTTTTGAATCAAAGAATAGGGAGACAATCTAAAAAATATCTTAGGTTGGAGATGACAGAAATATGATTGATTTGAAGTGGAAAAAGAAATTCTGTTAATGTTAATTAAAGTAAAATTATTCCCTGAATTGTTTGATATTGTCACCTAGCAGATATGTATTACTTTTCTGCAATGTTATTATTGGCTTGCACTTTGTGAGTATTCTATGTAAAAATATATATGTATATAAAATATATATTGCATAGGACAGACTTAGGAGTTTTGTTTAGAGCAGTTAACATCTGAAGTGTCTAATGCATTAACTTTTGTAAGGTACTGAATACTTAATATGTGGGAAACCCTTTTGCGTGGTCCTTAGGCTTACAATGTGCACTGAATCGTTTCATGTAAGAATCCAAAGTGGACACCATTAACAGGTCTTTGAAATATGCATGTACTTTATATTTTCTATATTTGTAACTTTGCATGTTCTTGTTTTGTTATATAAAAAAATTGTAAATGTTTAATATCTGACTGAAATTAAACGAGCGAAGATGAGCACCACCTCCCGTGTCTGCAGTTGTATTTCCTGGTGCTTGCCCTGTGTTGGGGACTGTTTTGGGGGTTAATCTGAGCCAAGTGGCGCTTTCTGTCCTCCCTTCTCAAGTGATGGCCGATGGTTCACGCACTTCCCCCTGTTCCTGCCCTTGTCCTCACTTCCCAGTCACCCACTAGTTCATCTCTGCGGCTTTTGCATTTTCTCCACAAGCATCTA
AGGGAAGTGGCATGATGTGACCCGCATATTAAGAGGAGAGCGCTCAATGGCAGCCAGGGGAGGAGCAGGGAGGCTGGTTGGGAGGCTGTTGAAGAAATCAGGTGAGAAGTGATGGAAGCACCGAATAAGATGGTCATGTTGGAAAAATTGAGAAGCTGAGGTGCTTAGCATTGATTTTCAAGGTAGAGCTACTGAGATTTGCTGATAGATCCAATGTATGCTGGGAGAGAAAATTCAGTCACTCTAGAGCATTGGCTGGATTTGTCACCCATTGCAGCGAATGGAGAAGGTGCTGACATAAAAGCCCTTTAGACTGAAAGCTACTGACTGAGGGGATGGTGCCCTAGTTTGATTTCCTGGGGTGTATGAGTAGCAGGGAGGCCAAGAGCTGGGCCTCACGAGATTGTGGGGACTACATCAGGGAAGCAGGCCTGCAAAGAACCTGCACCACAGACCCCCACCTAAAAGAGCCTCCAAAAACCCTAACTGGCATGACCTGAGTACTTTAACTCTGCTTGTAACTTTCAAATATATTTTGATTTGCTTATGACCACCAAGGCAAAACTTCCCATTTCAATAATGTTAGTAGAAACATAAACAGGATGTTAATTTATTTATTTGGTAATTCTTTTTATGAATATTATCCAGTTTAATCATTAGCTCTGAAGGAGATGAAAAATAATTTTCTAATTTTTAGAAAAATTTGCAGCTAATTGGGTGATAAAGGTAAGGGGTTTCTGAGTTCACAAAAATGTTCTAAAATTGGCAACAGTTTCGGTTGCACGTTTCATTAAATGTACTAAAAACCATTGAACTGTACATGGTATATGGTGAATTATATGGTATGTGAATTATATCTCAACAAGCTGGGTATTGTTTTTTTAAAAAATAAAAATAAAAAAGGAGAAAGAGAGAGAGAAAAACAATTGCAGATCATCCCAGCACTGAGGACAAGACTAACTTCAGTGTTCCAGTATATGCCATTATAGGTTTTACGGCACACAGTGATGATTTGGAGCCTATGATTTGACCTAGGGTACAGCAGGTACTGTTTAGCAATCATTTTACTATTGTCATAGGTCTCTGCTCTTGGAGCTAAGTGCCCAGGGTAAATGAGATCTTTAATTTGAAAAGAGATTTTTGATTTGATGAATGTACATTCTCCAAAGGGTCATAAATTGTCATTCTGGATGTTTGATCTGTTTGTTGTTTTGGTACAAAAATTAGAAGAAAATAATTCACTCATAAAATGTTAAATAATGAACTAAAAGTCATTCATCAAGTCCATAACTTAGGGTCACATTTGTCCTTGGAGCAGGAGAAAGAGTTGTGTTCACCCTTTTCTTACTTTTGCTTTTGTCCTAAGTGCTTCAGAGAAGTACAGGGTGGCAACAGTGTTTCTACTGAGCAGCTGATACCATTGCTATGCACTCATTCATTATGCAGGAAACATTTAGTAATTTCAACATAAATATGGGACTCTGACGTTCTCCTCTTCATTTTGCAGAGCAGTCATTATGGCGAACCTTGGCTGCTGGATGCTGGTTCTCTTTGTGGCCACATGGAGTGACCTGGGCCTCTGCAAGAAGCGCCCGAAGCCTGGAGGATGGAACACTGGGGGCAGCCGATACCCGGGGCAGGGCAGCCCTGGAGGCAACCGCTACCCACCTCAGGGCGGTGGTGGCTGGGGGCAGCCTCATGGTGGTGGCTGGGGGCAGCCTCATGGTGGTGGCTGGGGGCAGCCCCATGGTGGTGGCTGGGGACAGCCTCATGGTGGTGGCTGGGGTCAAGGAGGTGGCACCCACAGTCAGTGGAACAAGCCGAGTAAGCCAAAAACCAACATGAAGCACATGGCTGGTGCTGCAGCAGCTGGGGCAGTGGTGGGGGGCCTTGGCGGCTACATGCTGGGAAGTGCCATGAGCAGGCCCATCATACATTTCGGCAGTGACTATGAGGACCGTTACTATCGTGAAAACATGCACCGTTACCCCAACCAAGTGTACTACAGGCCCATGGATGAGTACAGCAACCAGAACAACTTTGTGCACAACTGCGTCAATATCACAATCAAGCAGCACACGGTCACCACAACCACCAAGGGGGAGAACTTCACCGAGACCGACGTTAAGATGATGGAGCGCGTGGTTGAGCAGATGTGTATCACCCAGTACGAGAGGGAATCTCAGGCCTATTACCAGAGAGGATCGAGCATGGTCCTCTTCTCCTCTCCACCTGTGATCCTCCTGATCTCTTTCCTCATCTTCCTGATAGTGGGATGAGGAAGGTCTTCCTGTTTTCACCATCTTTCTAATCTTTTTCCAGCTTGAGGGAGGCGGTATCCACCTGCAGCCCTTTTAGTGGTGGTGTCTCACTCTTTCTTCTCTCTTTGTCCCGGATAGGCTAATCAATACCCTTGGCACTGATGGGCACTGGAAAACATAGAGTAGACCTGAGATGCTGGTCAAGCCCCCTTTGATTGAGTTCATCATGAGCCGTTGCTAATGCCAGGCCAGTAAAAGTATAACAGCAAATAACCATTGGTTAATCTGGACTTATTTTTGGACTTAGTGCAACAGGTTGAGGCTAAAACAAATCTCAGAACAGTCTGAAATACCTTTGCCTGGATACCTCTGGCTCCTTCAGCAGCTAGAGCTCAGTATACTAATGCCCTATCTTAGTAGAGATTTCATAGCTATTTAGAGATATTTTCCATTTTAAGAAAACCCGACAACATTTCTGCCAGGTTTGTTAGGAGGCCACATGATACTTATTCAAAAAAATCCTAGAGATTCTTAGCTCTTGGGATGCAGGCTCAGCCCGCTGGAGCATGAGCTCTGTGTGTACCGAGAACTGGGGTGATGTTTTACTTTTCACAGTATGGGCTACACAGCAGCTGTTCAACAAGAGTAAATATTGTCACAACACTGAACCTCTGGCTAGAGGACATATTCACAGTGAACATAACTGTAACATATATGAAAGGCTTCTGGGACTTGAAATCAAATGTTTGGGAATGGTGCCCTTGGAGGCAACCTCCCATTTTAGATGTTTAAAGGACCCTATATGTGGCATTCCTTTCTTTAAACTATAGGTAATTAAGGCAGCTGAAAAGTAAATTGCCTTCTAGACACTGAAGGCAAATCTCCTTTGTCCATTTACCTGGAAACCAGAATGATTTTGACATACAGGAGAGCTGCAGTTGTGAAAGCACCATCATCATAGAGGATGATGTAATTAAAAAATGGTCAGTGTGCAAAGAAAAGAACTGCTTGCATTTCTTTATTTCTGTCTCATAATTGTCAAAAACCAGAATTAGGTCAAGTTCATAGTTTCTGTAATTGGCTTTTGAATCAAAGAATAGGGAGACAATCTAAAAAATATCTTAGGTTGGAGATGACAGAAATATGATTGATTTGAAGTGGAAAAAGAAATTCTGTTAATGTTAATTAAAGTAAAATTATTCCCTGAATTGTTTGATATTGTCACCTAGCAGATATGTATTACTTTTCTGCAATGTTATTATTGGCTTGCACTTTGTGAGTATTCTATGTAAAAATATATATGTATATAAAATATATATTGCATAGGACAGACTTAGGAGTTTTGTTTAGAGCAGTTAACATCTGAAGTGTCTAATGCATTAACTTTTGTAAGGTACTGAATACTTAATATGTGGGAAACCCTTTTGCGTGGTCCTTAGGCTTACAATGTGCACTGAATCGTTTCATGTAAGAATCCAAAGTGGACACCATTAACAGGTCTTTGAAATATGCATGTACTTTATATTTTCTATATTTGTAACTTTGCATGTTCTTGTTTTGTTATATAAAAAAATTGTAAATGTTTAATATCTGACTGAAATTAAACGAGCGAAGATGAGCACCACCTCCCGTGTCTGCAGTTGTATTTCCTGGTGCTTGCCCTGTGTTGGGGACTGTTTTGGGGGTTAATCTGAGCCAAGTGGCGCTTTCTGTCCTCCCTTCTCAAGTGATGGCCGATGGTTCACGCACTTCCCCCTGTTCCTGCCCTTGTCCTCACTTCCCAGTCACCCACTAGTTCATCTCTGCGGCTTTTGCATTTTCTCCACAAGCATCTA
Task1_train_27689
A variant found in Chromosome 20 affects PRNP (prion protein (Kanno blood group)). Please analyze its biological impact: is it benign or pathogenic, and what condition might it cause?
Pathogenic; Spongiform encephalopathy with neuropsychiatric features
AGGGAAGTGGCATGATGTGACCCGCATATTAAGAGGAGAGCGCTCAATGGCAGCCAGGGGAGGAGCAGGGAGGCTGGTTGGGAGGCTGTTGAAGAAATCAGGTGAGAAGTGATGGAAGCACCGAATAAGATGGTCATGTTGGAAAAATTGAGAAGCTGAGGTGCTTAGCATTGATTTTCAAGGTAGAGCTACTGAGATTTGCTGATAGATCCAATGTATGCTGGGAGAGAAAATTCAGTCACTCTAGAGCATTGGCTGGATTTGTCACCCATTGCAGCGAATGGAGAAGGTGCTGACATAAAAGCCCTTTAGACTGAAAGCTACTGACTGAGGGGATGGTGCCCTAGTTTGATTTCCTGGGGTGTATGAGTAGCAGGGAGGCCAAGAGCTGGGCCTCACGAGATTGTGGGGACTACATCAGGGAAGCAGGCCTGCAAAGAACCTGCACCACAGACCCCCACCTAAAAGAGCCTCCAAAAACCCTAACTGGCATGACCTGAGTACTTTAACTCTGCTTGTAACTTTCAAATATATTTTGATTTGCTTATGACCACCAAGGCAAAACTTCCCATTTCAATAATGTTAGTAGAAACATAAACAGGATGTTAATTTATTTATTTGGTAATTCTTTTTATGAATATTATCCAGTTTAATCATTAGCTCTGAAGGAGATGAAAAATAATTTTCTAATTTTTAGAAAAATTTGCAGCTAATTGGGTGATAAAGGTAAGGGGTTTCTGAGTTCACAAAAATGTTCTAAAATTGGCAACAGTTTCGGTTGCACGTTTCATTAAATGTACTAAAAACCATTGAACTGTACATGGTATATGGTGAATTATATGGTATGTGAATTATATCTCAACAAGCTGGGTATTGTTTTTTTAAAAAATAAAAATAAAAAAGGAGAAAGAGAGAGAGAAAAACAATTGCAGATCATCCCAGCACTGAGGACAAGACTAACTTCAGTGTTCCAGTATATGCCATTATAGGTTTTACGGCACACAGTGATGATTTGGAGCCTATGATTTGACCTAGGGTACAGCAGGTACTGTTTAGCAATCATTTTACTATTGTCATAGGTCTCTGCTCTTGGAGCTAAGTGCCCAGGGTAAATGAGATCTTTAATTTGAAAAGAGATTTTTGATTTGATGAATGTACATTCTCCAAAGGGTCATAAATTGTCATTCTGGATGTTTGATCTGTTTGTTGTTTTGGTACAAAAATTAGAAGAAAATAATTCACTCATAAAATGTTAAATAATGAACTAAAAGTCATTCATCAAGTCCATAACTTAGGGTCACATTTGTCCTTGGAGCAGGAGAAAGAGTTGTGTTCACCCTTTTCTTACTTTTGCTTTTGTCCTAAGTGCTTCAGAGAAGTACAGGGTGGCAACAGTGTTTCTACTGAGCAGCTGATACCATTGCTATGCACTCATTCATTATGCAGGAAACATTTAGTAATTTCAACATAAATATGGGACTCTGACGTTCTCCTCTTCATTTTGCAGAGCAGTCATTATGGCGAACCTTGGCTGCTGGATGCTGGTTCTCTTTGTGGCCACATGGAGTGACCTGGGCCTCTGCAAGAAGCGCCCGAAGCCTGGAGGATGGAACACTGGGGGCAGCCGATACCCGGGGCAGGGCAGCCCTGGAGGCAACCGCTACCCACCTCAGGGCGGTGGTGGCTGGGGGCAGCCTCATGGTGGTGGCTGGGGGCAGCCTCATGGTGGTGGCTGGGGGCAGCCCCATGGTGGTGGCTGGGGACAGCCTCATGGTGGTGGCTGGGGTCAAGGAGGTGGCACCCACAGTCAGTGGAACAAGCCGAGTAAGCCAAAAACCAACATGAAGCACATGGCTGGTGCTGCAGCAGCTGGGGCAGTGGTGGGGGGCCTTGGCGGCTACATGCTGGGAAGTGCCATGAGCAGGCCCATCATACATTTCGGCAGTGACTATGAGGACCGTTACTATCGTGAAAACATGCACCGTTACCCCAACCAAGTGTACTACAGGCCCATGGATGAGTACAGCAACCAGAACAACTTTGTGCACGACTGCGTCAATATCACAATCAAGCAGCACACGGTCACCACAACCACCAAGGGGGAGAACTTCACCGAGACCGACGTTAAGATGATGGAGCGCGTGGTTGAGCAGATGTGTATCACCCAGTACGAGAGGGAATCTCAGGCCTATTACCAGAGAGGATCGAGCATGGTCCTCTTCTCCTCTCCACCTGTGATCCTCCTGATCTCTTTCCTCATCTTCCTGATAGTGGGATGAGGAAGGTCTTCCTGTTTTCACCATCTTTCTAATCTTTTTCCAGCTTGAGGGAGGCGGTATCCACCTGCAGCCCTTTTAGTGGTGGTGTCTCACTCTTTCTTCTCTCTTTGTCCCGGATAGGCTAATCAATACCCTTGGCACTGATGGGCACTGGAAAACATAGAGTAGACCTGAGATGCTGGTCAAGCCCCCTTTGATTGAGTTCATCATGAGCCGTTGCTAATGCCAGGCCAGTAAAAGTATAACAGCAAATAACCATTGGTTAATCTGGACTTATTTTTGGACTTAGTGCAACAGGTTGAGGCTAAAACAAATCTCAGAACAGTCTGAAATACCTTTGCCTGGATACCTCTGGCTCCTTCAGCAGCTAGAGCTCAGTATACTAATGCCCTATCTTAGTAGAGATTTCATAGCTATTTAGAGATATTTTCCATTTTAAGAAAACCCGACAACATTTCTGCCAGGTTTGTTAGGAGGCCACATGATACTTATTCAAAAAAATCCTAGAGATTCTTAGCTCTTGGGATGCAGGCTCAGCCCGCTGGAGCATGAGCTCTGTGTGTACCGAGAACTGGGGTGATGTTTTACTTTTCACAGTATGGGCTACACAGCAGCTGTTCAACAAGAGTAAATATTGTCACAACACTGAACCTCTGGCTAGAGGACATATTCACAGTGAACATAACTGTAACATATATGAAAGGCTTCTGGGACTTGAAATCAAATGTTTGGGAATGGTGCCCTTGGAGGCAACCTCCCATTTTAGATGTTTAAAGGACCCTATATGTGGCATTCCTTTCTTTAAACTATAGGTAATTAAGGCAGCTGAAAAGTAAATTGCCTTCTAGACACTGAAGGCAAATCTCCTTTGTCCATTTACCTGGAAACCAGAATGATTTTGACATACAGGAGAGCTGCAGTTGTGAAAGCACCATCATCATAGAGGATGATGTAATTAAAAAATGGTCAGTGTGCAAAGAAAAGAACTGCTTGCATTTCTTTATTTCTGTCTCATAATTGTCAAAAACCAGAATTAGGTCAAGTTCATAGTTTCTGTAATTGGCTTTTGAATCAAAGAATAGGGAGACAATCTAAAAAATATCTTAGGTTGGAGATGACAGAAATATGATTGATTTGAAGTGGAAAAAGAAATTCTGTTAATGTTAATTAAAGTAAAATTATTCCCTGAATTGTTTGATATTGTCACCTAGCAGATATGTATTACTTTTCTGCAATGTTATTATTGGCTTGCACTTTGTGAGTATTCTATGTAAAAATATATATGTATATAAAATATATATTGCATAGGACAGACTTAGGAGTTTTGTTTAGAGCAGTTAACATCTGAAGTGTCTAATGCATTAACTTTTGTAAGGTACTGAATACTTAATATGTGGGAAACCCTTTTGCGTGGTCCTTAGGCTTACAATGTGCACTGAATCGTTTCATGTAAGAATCCAAAGTGGACACCATTAACAGGTCTTTGAAATATGCATGTACTTTATATTTTCTATATTTGTAACTTTGCATGTTCTTGTTTTGTTATATAAAAAAATTGTAAATGTTTAATATCTGACTGAAATTAAACGAGCGAAGATGAGCACCACCTCCCGTGTCTGCAGTTGTATTTCCTGGTGCTTGCCCTGTGTTGGGGACTGTTTTGGGGGTTAATCTGAGCCAAGTGGCGCTTTCTGTCCTCCCTTCTCAAGTGATGGCCGATGGTTCACGCACTTCCCCCTGTTCCTGCCCTTGTCCTCACTTCCCAGTCACCCACTAGTTCATCTCTGCGGCTTTTGCATTTTCTCCACAAGCATCTA
AGGGAAGTGGCATGATGTGACCCGCATATTAAGAGGAGAGCGCTCAATGGCAGCCAGGGGAGGAGCAGGGAGGCTGGTTGGGAGGCTGTTGAAGAAATCAGGTGAGAAGTGATGGAAGCACCGAATAAGATGGTCATGTTGGAAAAATTGAGAAGCTGAGGTGCTTAGCATTGATTTTCAAGGTAGAGCTACTGAGATTTGCTGATAGATCCAATGTATGCTGGGAGAGAAAATTCAGTCACTCTAGAGCATTGGCTGGATTTGTCACCCATTGCAGCGAATGGAGAAGGTGCTGACATAAAAGCCCTTTAGACTGAAAGCTACTGACTGAGGGGATGGTGCCCTAGTTTGATTTCCTGGGGTGTATGAGTAGCAGGGAGGCCAAGAGCTGGGCCTCACGAGATTGTGGGGACTACATCAGGGAAGCAGGCCTGCAAAGAACCTGCACCACAGACCCCCACCTAAAAGAGCCTCCAAAAACCCTAACTGGCATGACCTGAGTACTTTAACTCTGCTTGTAACTTTCAAATATATTTTGATTTGCTTATGACCACCAAGGCAAAACTTCCCATTTCAATAATGTTAGTAGAAACATAAACAGGATGTTAATTTATTTATTTGGTAATTCTTTTTATGAATATTATCCAGTTTAATCATTAGCTCTGAAGGAGATGAAAAATAATTTTCTAATTTTTAGAAAAATTTGCAGCTAATTGGGTGATAAAGGTAAGGGGTTTCTGAGTTCACAAAAATGTTCTAAAATTGGCAACAGTTTCGGTTGCACGTTTCATTAAATGTACTAAAAACCATTGAACTGTACATGGTATATGGTGAATTATATGGTATGTGAATTATATCTCAACAAGCTGGGTATTGTTTTTTTAAAAAATAAAAATAAAAAAGGAGAAAGAGAGAGAGAAAAACAATTGCAGATCATCCCAGCACTGAGGACAAGACTAACTTCAGTGTTCCAGTATATGCCATTATAGGTTTTACGGCACACAGTGATGATTTGGAGCCTATGATTTGACCTAGGGTACAGCAGGTACTGTTTAGCAATCATTTTACTATTGTCATAGGTCTCTGCTCTTGGAGCTAAGTGCCCAGGGTAAATGAGATCTTTAATTTGAAAAGAGATTTTTGATTTGATGAATGTACATTCTCCAAAGGGTCATAAATTGTCATTCTGGATGTTTGATCTGTTTGTTGTTTTGGTACAAAAATTAGAAGAAAATAATTCACTCATAAAATGTTAAATAATGAACTAAAAGTCATTCATCAAGTCCATAACTTAGGGTCACATTTGTCCTTGGAGCAGGAGAAAGAGTTGTGTTCACCCTTTTCTTACTTTTGCTTTTGTCCTAAGTGCTTCAGAGAAGTACAGGGTGGCAACAGTGTTTCTACTGAGCAGCTGATACCATTGCTATGCACTCATTCATTATGCAGGAAACATTTAGTAATTTCAACATAAATATGGGACTCTGACGTTCTCCTCTTCATTTTGCAGAGCAGTCATTATGGCGAACCTTGGCTGCTGGATGCTGGTTCTCTTTGTGGCCACATGGAGTGACCTGGGCCTCTGCAAGAAGCGCCCGAAGCCTGGAGGATGGAACACTGGGGGCAGCCGATACCCGGGGCAGGGCAGCCCTGGAGGCAACCGCTACCCACCTCAGGGCGGTGGTGGCTGGGGGCAGCCTCATGGTGGTGGCTGGGGGCAGCCTCATGGTGGTGGCTGGGGGCAGCCCCATGGTGGTGGCTGGGGACAGCCTCATGGTGGTGGCTGGGGTCAAGGAGGTGGCACCCACAGTCAGTGGAACAAGCCGAGTAAGCCAAAAACCAACATGAAGCACATGGCTGGTGCTGCAGCAGCTGGGGCAGTGGTGGGGGGCCTTGGCGGCTACATGCTGGGAAGTGCCATGAGCAGGCCCATCATACATTTCGGCAGTGACTATGAGGACCGTTACTATCGTGAAAACATGCACCGTTACCCCAACCAAGTGTACTACAGGCCCATGGATGAGTACAGCAACCAGAACAACTTTGTGCACAACTGCGTCAATATCACAATCAAGCAGCACACGGTCACCACAACCACCAAGGGGGAGAACTTCACCGAGACCGACGTTAAGATGATGGAGCGCGTGGTTGAGCAGATGTGTATCACCCAGTACGAGAGGGAATCTCAGGCCTATTACCAGAGAGGATCGAGCATGGTCCTCTTCTCCTCTCCACCTGTGATCCTCCTGATCTCTTTCCTCATCTTCCTGATAGTGGGATGAGGAAGGTCTTCCTGTTTTCACCATCTTTCTAATCTTTTTCCAGCTTGAGGGAGGCGGTATCCACCTGCAGCCCTTTTAGTGGTGGTGTCTCACTCTTTCTTCTCTCTTTGTCCCGGATAGGCTAATCAATACCCTTGGCACTGATGGGCACTGGAAAACATAGAGTAGACCTGAGATGCTGGTCAAGCCCCCTTTGATTGAGTTCATCATGAGCCGTTGCTAATGCCAGGCCAGTAAAAGTATAACAGCAAATAACCATTGGTTAATCTGGACTTATTTTTGGACTTAGTGCAACAGGTTGAGGCTAAAACAAATCTCAGAACAGTCTGAAATACCTTTGCCTGGATACCTCTGGCTCCTTCAGCAGCTAGAGCTCAGTATACTAATGCCCTATCTTAGTAGAGATTTCATAGCTATTTAGAGATATTTTCCATTTTAAGAAAACCCGACAACATTTCTGCCAGGTTTGTTAGGAGGCCACATGATACTTATTCAAAAAAATCCTAGAGATTCTTAGCTCTTGGGATGCAGGCTCAGCCCGCTGGAGCATGAGCTCTGTGTGTACCGAGAACTGGGGTGATGTTTTACTTTTCACAGTATGGGCTACACAGCAGCTGTTCAACAAGAGTAAATATTGTCACAACACTGAACCTCTGGCTAGAGGACATATTCACAGTGAACATAACTGTAACATATATGAAAGGCTTCTGGGACTTGAAATCAAATGTTTGGGAATGGTGCCCTTGGAGGCAACCTCCCATTTTAGATGTTTAAAGGACCCTATATGTGGCATTCCTTTCTTTAAACTATAGGTAATTAAGGCAGCTGAAAAGTAAATTGCCTTCTAGACACTGAAGGCAAATCTCCTTTGTCCATTTACCTGGAAACCAGAATGATTTTGACATACAGGAGAGCTGCAGTTGTGAAAGCACCATCATCATAGAGGATGATGTAATTAAAAAATGGTCAGTGTGCAAAGAAAAGAACTGCTTGCATTTCTTTATTTCTGTCTCATAATTGTCAAAAACCAGAATTAGGTCAAGTTCATAGTTTCTGTAATTGGCTTTTGAATCAAAGAATAGGGAGACAATCTAAAAAATATCTTAGGTTGGAGATGACAGAAATATGATTGATTTGAAGTGGAAAAAGAAATTCTGTTAATGTTAATTAAAGTAAAATTATTCCCTGAATTGTTTGATATTGTCACCTAGCAGATATGTATTACTTTTCTGCAATGTTATTATTGGCTTGCACTTTGTGAGTATTCTATGTAAAAATATATATGTATATAAAATATATATTGCATAGGACAGACTTAGGAGTTTTGTTTAGAGCAGTTAACATCTGAAGTGTCTAATGCATTAACTTTTGTAAGGTACTGAATACTTAATATGTGGGAAACCCTTTTGCGTGGTCCTTAGGCTTACAATGTGCACTGAATCGTTTCATGTAAGAATCCAAAGTGGACACCATTAACAGGTCTTTGAAATATGCATGTACTTTATATTTTCTATATTTGTAACTTTGCATGTTCTTGTTTTGTTATATAAAAAAATTGTAAATGTTTAATATCTGACTGAAATTAAACGAGCGAAGATGAGCACCACCTCCCGTGTCTGCAGTTGTATTTCCTGGTGCTTGCCCTGTGTTGGGGACTGTTTTGGGGGTTAATCTGAGCCAAGTGGCGCTTTCTGTCCTCCCTTCTCAAGTGATGGCCGATGGTTCACGCACTTCCCCCTGTTCCTGCCCTTGTCCTCACTTCCCAGTCACCCACTAGTTCATCTCTGCGGCTTTTGCATTTTCTCCACAAGCATCTA
Task1_train_27690
Here is a variant affecting PRNP (prion protein (Kanno blood group)) on Chromosome 20. Please identify whether it is a benign mutation or associated with a disorder.
Pathogenic; Gerstmann-Straussler-Scheinker syndrome
AGGGAAGTGGCATGATGTGACCCGCATATTAAGAGGAGAGCGCTCAATGGCAGCCAGGGGAGGAGCAGGGAGGCTGGTTGGGAGGCTGTTGAAGAAATCAGGTGAGAAGTGATGGAAGCACCGAATAAGATGGTCATGTTGGAAAAATTGAGAAGCTGAGGTGCTTAGCATTGATTTTCAAGGTAGAGCTACTGAGATTTGCTGATAGATCCAATGTATGCTGGGAGAGAAAATTCAGTCACTCTAGAGCATTGGCTGGATTTGTCACCCATTGCAGCGAATGGAGAAGGTGCTGACATAAAAGCCCTTTAGACTGAAAGCTACTGACTGAGGGGATGGTGCCCTAGTTTGATTTCCTGGGGTGTATGAGTAGCAGGGAGGCCAAGAGCTGGGCCTCACGAGATTGTGGGGACTACATCAGGGAAGCAGGCCTGCAAAGAACCTGCACCACAGACCCCCACCTAAAAGAGCCTCCAAAAACCCTAACTGGCATGACCTGAGTACTTTAACTCTGCTTGTAACTTTCAAATATATTTTGATTTGCTTATGACCACCAAGGCAAAACTTCCCATTTCAATAATGTTAGTAGAAACATAAACAGGATGTTAATTTATTTATTTGGTAATTCTTTTTATGAATATTATCCAGTTTAATCATTAGCTCTGAAGGAGATGAAAAATAATTTTCTAATTTTTAGAAAAATTTGCAGCTAATTGGGTGATAAAGGTAAGGGGTTTCTGAGTTCACAAAAATGTTCTAAAATTGGCAACAGTTTCGGTTGCACGTTTCATTAAATGTACTAAAAACCATTGAACTGTACATGGTATATGGTGAATTATATGGTATGTGAATTATATCTCAACAAGCTGGGTATTGTTTTTTTAAAAAATAAAAATAAAAAAGGAGAAAGAGAGAGAGAAAAACAATTGCAGATCATCCCAGCACTGAGGACAAGACTAACTTCAGTGTTCCAGTATATGCCATTATAGGTTTTACGGCACACAGTGATGATTTGGAGCCTATGATTTGACCTAGGGTACAGCAGGTACTGTTTAGCAATCATTTTACTATTGTCATAGGTCTCTGCTCTTGGAGCTAAGTGCCCAGGGTAAATGAGATCTTTAATTTGAAAAGAGATTTTTGATTTGATGAATGTACATTCTCCAAAGGGTCATAAATTGTCATTCTGGATGTTTGATCTGTTTGTTGTTTTGGTACAAAAATTAGAAGAAAATAATTCACTCATAAAATGTTAAATAATGAACTAAAAGTCATTCATCAAGTCCATAACTTAGGGTCACATTTGTCCTTGGAGCAGGAGAAAGAGTTGTGTTCACCCTTTTCTTACTTTTGCTTTTGTCCTAAGTGCTTCAGAGAAGTACAGGGTGGCAACAGTGTTTCTACTGAGCAGCTGATACCATTGCTATGCACTCATTCATTATGCAGGAAACATTTAGTAATTTCAACATAAATATGGGACTCTGACGTTCTCCTCTTCATTTTGCAGAGCAGTCATTATGGCGAACCTTGGCTGCTGGATGCTGGTTCTCTTTGTGGCCACATGGAGTGACCTGGGCCTCTGCAAGAAGCGCCCGAAGCCTGGAGGATGGAACACTGGGGGCAGCCGATACCCGGGGCAGGGCAGCCCTGGAGGCAACCGCTACCCACCTCAGGGCGGTGGTGGCTGGGGGCAGCCTCATGGTGGTGGCTGGGGGCAGCCTCATGGTGGTGGCTGGGGGCAGCCCCATGGTGGTGGCTGGGGACAGCCTCATGGTGGTGGCTGGGGTCAAGGAGGTGGCACCCACAGTCAGTGGAACAAGCCGAGTAAGCCAAAAACCAACATGAAGCACATGGCTGGTGCTGCAGCAGCTGGGGCAGTGGTGGGGGGCCTTGGCGGCTACATGCTGGGAAGTGCCATGAGCAGGCCCATCATACATTTCGGCAGTGACTATGAGGACCGTTACTATCGTGAAAACATGCACCGTTACCCCAACCAAGTGTACTACAGGCCCATGGATGAGTACAGCAACCAGAACAACTTTGTGCACGACTGCGTCAATATCACAATCAAGCAGCACACGGTCACCACAACCACCAAGGGGGAGAACTTCACCGAGACCGACGTTAAGATGATGGAGCGCGTGGTTGAGCAGATGTGTATCACCCAGTACGAGAGGGAATCTCAGGCCTATTACCAGAGAGGATCGAGCATGGTCCTCTTCTCCTCTCCACCTGTGATCCTCCTGATCTCTTTCCTCATCTTCCTGATAGTGGGATGAGGAAGGTCTTCCTGTTTTCACCATCTTTCTAATCTTTTTCCAGCTTGAGGGAGGCGGTATCCACCTGCAGCCCTTTTAGTGGTGGTGTCTCACTCTTTCTTCTCTCTTTGTCCCGGATAGGCTAATCAATACCCTTGGCACTGATGGGCACTGGAAAACATAGAGTAGACCTGAGATGCTGGTCAAGCCCCCTTTGATTGAGTTCATCATGAGCCGTTGCTAATGCCAGGCCAGTAAAAGTATAACAGCAAATAACCATTGGTTAATCTGGACTTATTTTTGGACTTAGTGCAACAGGTTGAGGCTAAAACAAATCTCAGAACAGTCTGAAATACCTTTGCCTGGATACCTCTGGCTCCTTCAGCAGCTAGAGCTCAGTATACTAATGCCCTATCTTAGTAGAGATTTCATAGCTATTTAGAGATATTTTCCATTTTAAGAAAACCCGACAACATTTCTGCCAGGTTTGTTAGGAGGCCACATGATACTTATTCAAAAAAATCCTAGAGATTCTTAGCTCTTGGGATGCAGGCTCAGCCCGCTGGAGCATGAGCTCTGTGTGTACCGAGAACTGGGGTGATGTTTTACTTTTCACAGTATGGGCTACACAGCAGCTGTTCAACAAGAGTAAATATTGTCACAACACTGAACCTCTGGCTAGAGGACATATTCACAGTGAACATAACTGTAACATATATGAAAGGCTTCTGGGACTTGAAATCAAATGTTTGGGAATGGTGCCCTTGGAGGCAACCTCCCATTTTAGATGTTTAAAGGACCCTATATGTGGCATTCCTTTCTTTAAACTATAGGTAATTAAGGCAGCTGAAAAGTAAATTGCCTTCTAGACACTGAAGGCAAATCTCCTTTGTCCATTTACCTGGAAACCAGAATGATTTTGACATACAGGAGAGCTGCAGTTGTGAAAGCACCATCATCATAGAGGATGATGTAATTAAAAAATGGTCAGTGTGCAAAGAAAAGAACTGCTTGCATTTCTTTATTTCTGTCTCATAATTGTCAAAAACCAGAATTAGGTCAAGTTCATAGTTTCTGTAATTGGCTTTTGAATCAAAGAATAGGGAGACAATCTAAAAAATATCTTAGGTTGGAGATGACAGAAATATGATTGATTTGAAGTGGAAAAAGAAATTCTGTTAATGTTAATTAAAGTAAAATTATTCCCTGAATTGTTTGATATTGTCACCTAGCAGATATGTATTACTTTTCTGCAATGTTATTATTGGCTTGCACTTTGTGAGTATTCTATGTAAAAATATATATGTATATAAAATATATATTGCATAGGACAGACTTAGGAGTTTTGTTTAGAGCAGTTAACATCTGAAGTGTCTAATGCATTAACTTTTGTAAGGTACTGAATACTTAATATGTGGGAAACCCTTTTGCGTGGTCCTTAGGCTTACAATGTGCACTGAATCGTTTCATGTAAGAATCCAAAGTGGACACCATTAACAGGTCTTTGAAATATGCATGTACTTTATATTTTCTATATTTGTAACTTTGCATGTTCTTGTTTTGTTATATAAAAAAATTGTAAATGTTTAATATCTGACTGAAATTAAACGAGCGAAGATGAGCACCACCTCCCGTGTCTGCAGTTGTATTTCCTGGTGCTTGCCCTGTGTTGGGGACTGTTTTGGGGGTTAATCTGAGCCAAGTGGCGCTTTCTGTCCTCCCTTCTCAAGTGATGGCCGATGGTTCACGCACTTCCCCCTGTTCCTGCCCTTGTCCTCACTTCCCAGTCACCCACTAGTTCATCTCTGCGGCTTTTGCATTTTCTCCACAAGCATCTA
AGGGAAGTGGCATGATGTGACCCGCATATTAAGAGGAGAGCGCTCAATGGCAGCCAGGGGAGGAGCAGGGAGGCTGGTTGGGAGGCTGTTGAAGAAATCAGGTGAGAAGTGATGGAAGCACCGAATAAGATGGTCATGTTGGAAAAATTGAGAAGCTGAGGTGCTTAGCATTGATTTTCAAGGTAGAGCTACTGAGATTTGCTGATAGATCCAATGTATGCTGGGAGAGAAAATTCAGTCACTCTAGAGCATTGGCTGGATTTGTCACCCATTGCAGCGAATGGAGAAGGTGCTGACATAAAAGCCCTTTAGACTGAAAGCTACTGACTGAGGGGATGGTGCCCTAGTTTGATTTCCTGGGGTGTATGAGTAGCAGGGAGGCCAAGAGCTGGGCCTCACGAGATTGTGGGGACTACATCAGGGAAGCAGGCCTGCAAAGAACCTGCACCACAGACCCCCACCTAAAAGAGCCTCCAAAAACCCTAACTGGCATGACCTGAGTACTTTAACTCTGCTTGTAACTTTCAAATATATTTTGATTTGCTTATGACCACCAAGGCAAAACTTCCCATTTCAATAATGTTAGTAGAAACATAAACAGGATGTTAATTTATTTATTTGGTAATTCTTTTTATGAATATTATCCAGTTTAATCATTAGCTCTGAAGGAGATGAAAAATAATTTTCTAATTTTTAGAAAAATTTGCAGCTAATTGGGTGATAAAGGTAAGGGGTTTCTGAGTTCACAAAAATGTTCTAAAATTGGCAACAGTTTCGGTTGCACGTTTCATTAAATGTACTAAAAACCATTGAACTGTACATGGTATATGGTGAATTATATGGTATGTGAATTATATCTCAACAAGCTGGGTATTGTTTTTTTAAAAAATAAAAATAAAAAAGGAGAAAGAGAGAGAGAAAAACAATTGCAGATCATCCCAGCACTGAGGACAAGACTAACTTCAGTGTTCCAGTATATGCCATTATAGGTTTTACGGCACACAGTGATGATTTGGAGCCTATGATTTGACCTAGGGTACAGCAGGTACTGTTTAGCAATCATTTTACTATTGTCATAGGTCTCTGCTCTTGGAGCTAAGTGCCCAGGGTAAATGAGATCTTTAATTTGAAAAGAGATTTTTGATTTGATGAATGTACATTCTCCAAAGGGTCATAAATTGTCATTCTGGATGTTTGATCTGTTTGTTGTTTTGGTACAAAAATTAGAAGAAAATAATTCACTCATAAAATGTTAAATAATGAACTAAAAGTCATTCATCAAGTCCATAACTTAGGGTCACATTTGTCCTTGGAGCAGGAGAAAGAGTTGTGTTCACCCTTTTCTTACTTTTGCTTTTGTCCTAAGTGCTTCAGAGAAGTACAGGGTGGCAACAGTGTTTCTACTGAGCAGCTGATACCATTGCTATGCACTCATTCATTATGCAGGAAACATTTAGTAATTTCAACATAAATATGGGACTCTGACGTTCTCCTCTTCATTTTGCAGAGCAGTCATTATGGCGAACCTTGGCTGCTGGATGCTGGTTCTCTTTGTGGCCACATGGAGTGACCTGGGCCTCTGCAAGAAGCGCCCGAAGCCTGGAGGATGGAACACTGGGGGCAGCCGATACCCGGGGCAGGGCAGCCCTGGAGGCAACCGCTACCCACCTCAGGGCGGTGGTGGCTGGGGGCAGCCTCATGGTGGTGGCTGGGGGCAGCCTCATGGTGGTGGCTGGGGGCAGCCCCATGGTGGTGGCTGGGGACAGCCTCATGGTGGTGGCTGGGGTCAAGGAGGTGGCACCCACAGTCAGTGGAACAAGCCGAGTAAGCCAAAAACCAACATGAAGCACATGGCTGGTGCTGCAGCAGCTGGGGCAGTGGTGGGGGGCCTTGGCGGCTACATGCTGGGAAGTGCCATGAGCAGGCCCATCATACATTTCGGCAGTGACTATGAGGACCGTTACTATCGTGAAAACATGCACCGTTACCCCAACCAAGTGTACTACAGGCCCATGGATGAGTACAGCAACCAGAACAACTTTGTGCACAACTGCGTCAATATCACAATCAAGCAGCACACGGTCACCACAACCACCAAGGGGGAGAACTTCACCGAGACCGACGTTAAGATGATGGAGCGCGTGGTTGAGCAGATGTGTATCACCCAGTACGAGAGGGAATCTCAGGCCTATTACCAGAGAGGATCGAGCATGGTCCTCTTCTCCTCTCCACCTGTGATCCTCCTGATCTCTTTCCTCATCTTCCTGATAGTGGGATGAGGAAGGTCTTCCTGTTTTCACCATCTTTCTAATCTTTTTCCAGCTTGAGGGAGGCGGTATCCACCTGCAGCCCTTTTAGTGGTGGTGTCTCACTCTTTCTTCTCTCTTTGTCCCGGATAGGCTAATCAATACCCTTGGCACTGATGGGCACTGGAAAACATAGAGTAGACCTGAGATGCTGGTCAAGCCCCCTTTGATTGAGTTCATCATGAGCCGTTGCTAATGCCAGGCCAGTAAAAGTATAACAGCAAATAACCATTGGTTAATCTGGACTTATTTTTGGACTTAGTGCAACAGGTTGAGGCTAAAACAAATCTCAGAACAGTCTGAAATACCTTTGCCTGGATACCTCTGGCTCCTTCAGCAGCTAGAGCTCAGTATACTAATGCCCTATCTTAGTAGAGATTTCATAGCTATTTAGAGATATTTTCCATTTTAAGAAAACCCGACAACATTTCTGCCAGGTTTGTTAGGAGGCCACATGATACTTATTCAAAAAAATCCTAGAGATTCTTAGCTCTTGGGATGCAGGCTCAGCCCGCTGGAGCATGAGCTCTGTGTGTACCGAGAACTGGGGTGATGTTTTACTTTTCACAGTATGGGCTACACAGCAGCTGTTCAACAAGAGTAAATATTGTCACAACACTGAACCTCTGGCTAGAGGACATATTCACAGTGAACATAACTGTAACATATATGAAAGGCTTCTGGGACTTGAAATCAAATGTTTGGGAATGGTGCCCTTGGAGGCAACCTCCCATTTTAGATGTTTAAAGGACCCTATATGTGGCATTCCTTTCTTTAAACTATAGGTAATTAAGGCAGCTGAAAAGTAAATTGCCTTCTAGACACTGAAGGCAAATCTCCTTTGTCCATTTACCTGGAAACCAGAATGATTTTGACATACAGGAGAGCTGCAGTTGTGAAAGCACCATCATCATAGAGGATGATGTAATTAAAAAATGGTCAGTGTGCAAAGAAAAGAACTGCTTGCATTTCTTTATTTCTGTCTCATAATTGTCAAAAACCAGAATTAGGTCAAGTTCATAGTTTCTGTAATTGGCTTTTGAATCAAAGAATAGGGAGACAATCTAAAAAATATCTTAGGTTGGAGATGACAGAAATATGATTGATTTGAAGTGGAAAAAGAAATTCTGTTAATGTTAATTAAAGTAAAATTATTCCCTGAATTGTTTGATATTGTCACCTAGCAGATATGTATTACTTTTCTGCAATGTTATTATTGGCTTGCACTTTGTGAGTATTCTATGTAAAAATATATATGTATATAAAATATATATTGCATAGGACAGACTTAGGAGTTTTGTTTAGAGCAGTTAACATCTGAAGTGTCTAATGCATTAACTTTTGTAAGGTACTGAATACTTAATATGTGGGAAACCCTTTTGCGTGGTCCTTAGGCTTACAATGTGCACTGAATCGTTTCATGTAAGAATCCAAAGTGGACACCATTAACAGGTCTTTGAAATATGCATGTACTTTATATTTTCTATATTTGTAACTTTGCATGTTCTTGTTTTGTTATATAAAAAAATTGTAAATGTTTAATATCTGACTGAAATTAAACGAGCGAAGATGAGCACCACCTCCCGTGTCTGCAGTTGTATTTCCTGGTGCTTGCCCTGTGTTGGGGACTGTTTTGGGGGTTAATCTGAGCCAAGTGGCGCTTTCTGTCCTCCCTTCTCAAGTGATGGCCGATGGTTCACGCACTTCCCCCTGTTCCTGCCCTTGTCCTCACTTCCCAGTCACCCACTAGTTCATCTCTGCGGCTTTTGCATTTTCTCCACAAGCATCTA
Task1_train_27691
This is a variant in PRNP (prion protein (Kanno blood group)), located on Chromosome 20. Is this mutation a likely cause of disease or not?
Pathogenic; Huntington disease-like 1
AGGGAAGTGGCATGATGTGACCCGCATATTAAGAGGAGAGCGCTCAATGGCAGCCAGGGGAGGAGCAGGGAGGCTGGTTGGGAGGCTGTTGAAGAAATCAGGTGAGAAGTGATGGAAGCACCGAATAAGATGGTCATGTTGGAAAAATTGAGAAGCTGAGGTGCTTAGCATTGATTTTCAAGGTAGAGCTACTGAGATTTGCTGATAGATCCAATGTATGCTGGGAGAGAAAATTCAGTCACTCTAGAGCATTGGCTGGATTTGTCACCCATTGCAGCGAATGGAGAAGGTGCTGACATAAAAGCCCTTTAGACTGAAAGCTACTGACTGAGGGGATGGTGCCCTAGTTTGATTTCCTGGGGTGTATGAGTAGCAGGGAGGCCAAGAGCTGGGCCTCACGAGATTGTGGGGACTACATCAGGGAAGCAGGCCTGCAAAGAACCTGCACCACAGACCCCCACCTAAAAGAGCCTCCAAAAACCCTAACTGGCATGACCTGAGTACTTTAACTCTGCTTGTAACTTTCAAATATATTTTGATTTGCTTATGACCACCAAGGCAAAACTTCCCATTTCAATAATGTTAGTAGAAACATAAACAGGATGTTAATTTATTTATTTGGTAATTCTTTTTATGAATATTATCCAGTTTAATCATTAGCTCTGAAGGAGATGAAAAATAATTTTCTAATTTTTAGAAAAATTTGCAGCTAATTGGGTGATAAAGGTAAGGGGTTTCTGAGTTCACAAAAATGTTCTAAAATTGGCAACAGTTTCGGTTGCACGTTTCATTAAATGTACTAAAAACCATTGAACTGTACATGGTATATGGTGAATTATATGGTATGTGAATTATATCTCAACAAGCTGGGTATTGTTTTTTTAAAAAATAAAAATAAAAAAGGAGAAAGAGAGAGAGAAAAACAATTGCAGATCATCCCAGCACTGAGGACAAGACTAACTTCAGTGTTCCAGTATATGCCATTATAGGTTTTACGGCACACAGTGATGATTTGGAGCCTATGATTTGACCTAGGGTACAGCAGGTACTGTTTAGCAATCATTTTACTATTGTCATAGGTCTCTGCTCTTGGAGCTAAGTGCCCAGGGTAAATGAGATCTTTAATTTGAAAAGAGATTTTTGATTTGATGAATGTACATTCTCCAAAGGGTCATAAATTGTCATTCTGGATGTTTGATCTGTTTGTTGTTTTGGTACAAAAATTAGAAGAAAATAATTCACTCATAAAATGTTAAATAATGAACTAAAAGTCATTCATCAAGTCCATAACTTAGGGTCACATTTGTCCTTGGAGCAGGAGAAAGAGTTGTGTTCACCCTTTTCTTACTTTTGCTTTTGTCCTAAGTGCTTCAGAGAAGTACAGGGTGGCAACAGTGTTTCTACTGAGCAGCTGATACCATTGCTATGCACTCATTCATTATGCAGGAAACATTTAGTAATTTCAACATAAATATGGGACTCTGACGTTCTCCTCTTCATTTTGCAGAGCAGTCATTATGGCGAACCTTGGCTGCTGGATGCTGGTTCTCTTTGTGGCCACATGGAGTGACCTGGGCCTCTGCAAGAAGCGCCCGAAGCCTGGAGGATGGAACACTGGGGGCAGCCGATACCCGGGGCAGGGCAGCCCTGGAGGCAACCGCTACCCACCTCAGGGCGGTGGTGGCTGGGGGCAGCCTCATGGTGGTGGCTGGGGGCAGCCTCATGGTGGTGGCTGGGGGCAGCCCCATGGTGGTGGCTGGGGACAGCCTCATGGTGGTGGCTGGGGTCAAGGAGGTGGCACCCACAGTCAGTGGAACAAGCCGAGTAAGCCAAAAACCAACATGAAGCACATGGCTGGTGCTGCAGCAGCTGGGGCAGTGGTGGGGGGCCTTGGCGGCTACATGCTGGGAAGTGCCATGAGCAGGCCCATCATACATTTCGGCAGTGACTATGAGGACCGTTACTATCGTGAAAACATGCACCGTTACCCCAACCAAGTGTACTACAGGCCCATGGATGAGTACAGCAACCAGAACAACTTTGTGCACGACTGCGTCAATATCACAATCAAGCAGCACACGGTCACCACAACCACCAAGGGGGAGAACTTCACCGAGACCGACGTTAAGATGATGGAGCGCGTGGTTGAGCAGATGTGTATCACCCAGTACGAGAGGGAATCTCAGGCCTATTACCAGAGAGGATCGAGCATGGTCCTCTTCTCCTCTCCACCTGTGATCCTCCTGATCTCTTTCCTCATCTTCCTGATAGTGGGATGAGGAAGGTCTTCCTGTTTTCACCATCTTTCTAATCTTTTTCCAGCTTGAGGGAGGCGGTATCCACCTGCAGCCCTTTTAGTGGTGGTGTCTCACTCTTTCTTCTCTCTTTGTCCCGGATAGGCTAATCAATACCCTTGGCACTGATGGGCACTGGAAAACATAGAGTAGACCTGAGATGCTGGTCAAGCCCCCTTTGATTGAGTTCATCATGAGCCGTTGCTAATGCCAGGCCAGTAAAAGTATAACAGCAAATAACCATTGGTTAATCTGGACTTATTTTTGGACTTAGTGCAACAGGTTGAGGCTAAAACAAATCTCAGAACAGTCTGAAATACCTTTGCCTGGATACCTCTGGCTCCTTCAGCAGCTAGAGCTCAGTATACTAATGCCCTATCTTAGTAGAGATTTCATAGCTATTTAGAGATATTTTCCATTTTAAGAAAACCCGACAACATTTCTGCCAGGTTTGTTAGGAGGCCACATGATACTTATTCAAAAAAATCCTAGAGATTCTTAGCTCTTGGGATGCAGGCTCAGCCCGCTGGAGCATGAGCTCTGTGTGTACCGAGAACTGGGGTGATGTTTTACTTTTCACAGTATGGGCTACACAGCAGCTGTTCAACAAGAGTAAATATTGTCACAACACTGAACCTCTGGCTAGAGGACATATTCACAGTGAACATAACTGTAACATATATGAAAGGCTTCTGGGACTTGAAATCAAATGTTTGGGAATGGTGCCCTTGGAGGCAACCTCCCATTTTAGATGTTTAAAGGACCCTATATGTGGCATTCCTTTCTTTAAACTATAGGTAATTAAGGCAGCTGAAAAGTAAATTGCCTTCTAGACACTGAAGGCAAATCTCCTTTGTCCATTTACCTGGAAACCAGAATGATTTTGACATACAGGAGAGCTGCAGTTGTGAAAGCACCATCATCATAGAGGATGATGTAATTAAAAAATGGTCAGTGTGCAAAGAAAAGAACTGCTTGCATTTCTTTATTTCTGTCTCATAATTGTCAAAAACCAGAATTAGGTCAAGTTCATAGTTTCTGTAATTGGCTTTTGAATCAAAGAATAGGGAGACAATCTAAAAAATATCTTAGGTTGGAGATGACAGAAATATGATTGATTTGAAGTGGAAAAAGAAATTCTGTTAATGTTAATTAAAGTAAAATTATTCCCTGAATTGTTTGATATTGTCACCTAGCAGATATGTATTACTTTTCTGCAATGTTATTATTGGCTTGCACTTTGTGAGTATTCTATGTAAAAATATATATGTATATAAAATATATATTGCATAGGACAGACTTAGGAGTTTTGTTTAGAGCAGTTAACATCTGAAGTGTCTAATGCATTAACTTTTGTAAGGTACTGAATACTTAATATGTGGGAAACCCTTTTGCGTGGTCCTTAGGCTTACAATGTGCACTGAATCGTTTCATGTAAGAATCCAAAGTGGACACCATTAACAGGTCTTTGAAATATGCATGTACTTTATATTTTCTATATTTGTAACTTTGCATGTTCTTGTTTTGTTATATAAAAAAATTGTAAATGTTTAATATCTGACTGAAATTAAACGAGCGAAGATGAGCACCACCTCCCGTGTCTGCAGTTGTATTTCCTGGTGCTTGCCCTGTGTTGGGGACTGTTTTGGGGGTTAATCTGAGCCAAGTGGCGCTTTCTGTCCTCCCTTCTCAAGTGATGGCCGATGGTTCACGCACTTCCCCCTGTTCCTGCCCTTGTCCTCACTTCCCAGTCACCCACTAGTTCATCTCTGCGGCTTTTGCATTTTCTCCACAAGCATCTA
AGGGAAGTGGCATGATGTGACCCGCATATTAAGAGGAGAGCGCTCAATGGCAGCCAGGGGAGGAGCAGGGAGGCTGGTTGGGAGGCTGTTGAAGAAATCAGGTGAGAAGTGATGGAAGCACCGAATAAGATGGTCATGTTGGAAAAATTGAGAAGCTGAGGTGCTTAGCATTGATTTTCAAGGTAGAGCTACTGAGATTTGCTGATAGATCCAATGTATGCTGGGAGAGAAAATTCAGTCACTCTAGAGCATTGGCTGGATTTGTCACCCATTGCAGCGAATGGAGAAGGTGCTGACATAAAAGCCCTTTAGACTGAAAGCTACTGACTGAGGGGATGGTGCCCTAGTTTGATTTCCTGGGGTGTATGAGTAGCAGGGAGGCCAAGAGCTGGGCCTCACGAGATTGTGGGGACTACATCAGGGAAGCAGGCCTGCAAAGAACCTGCACCACAGACCCCCACCTAAAAGAGCCTCCAAAAACCCTAACTGGCATGACCTGAGTACTTTAACTCTGCTTGTAACTTTCAAATATATTTTGATTTGCTTATGACCACCAAGGCAAAACTTCCCATTTCAATAATGTTAGTAGAAACATAAACAGGATGTTAATTTATTTATTTGGTAATTCTTTTTATGAATATTATCCAGTTTAATCATTAGCTCTGAAGGAGATGAAAAATAATTTTCTAATTTTTAGAAAAATTTGCAGCTAATTGGGTGATAAAGGTAAGGGGTTTCTGAGTTCACAAAAATGTTCTAAAATTGGCAACAGTTTCGGTTGCACGTTTCATTAAATGTACTAAAAACCATTGAACTGTACATGGTATATGGTGAATTATATGGTATGTGAATTATATCTCAACAAGCTGGGTATTGTTTTTTTAAAAAATAAAAATAAAAAAGGAGAAAGAGAGAGAGAAAAACAATTGCAGATCATCCCAGCACTGAGGACAAGACTAACTTCAGTGTTCCAGTATATGCCATTATAGGTTTTACGGCACACAGTGATGATTTGGAGCCTATGATTTGACCTAGGGTACAGCAGGTACTGTTTAGCAATCATTTTACTATTGTCATAGGTCTCTGCTCTTGGAGCTAAGTGCCCAGGGTAAATGAGATCTTTAATTTGAAAAGAGATTTTTGATTTGATGAATGTACATTCTCCAAAGGGTCATAAATTGTCATTCTGGATGTTTGATCTGTTTGTTGTTTTGGTACAAAAATTAGAAGAAAATAATTCACTCATAAAATGTTAAATAATGAACTAAAAGTCATTCATCAAGTCCATAACTTAGGGTCACATTTGTCCTTGGAGCAGGAGAAAGAGTTGTGTTCACCCTTTTCTTACTTTTGCTTTTGTCCTAAGTGCTTCAGAGAAGTACAGGGTGGCAACAGTGTTTCTACTGAGCAGCTGATACCATTGCTATGCACTCATTCATTATGCAGGAAACATTTAGTAATTTCAACATAAATATGGGACTCTGACGTTCTCCTCTTCATTTTGCAGAGCAGTCATTATGGCGAACCTTGGCTGCTGGATGCTGGTTCTCTTTGTGGCCACATGGAGTGACCTGGGCCTCTGCAAGAAGCGCCCGAAGCCTGGAGGATGGAACACTGGGGGCAGCCGATACCCGGGGCAGGGCAGCCCTGGAGGCAACCGCTACCCACCTCAGGGCGGTGGTGGCTGGGGGCAGCCTCATGGTGGTGGCTGGGGGCAGCCTCATGGTGGTGGCTGGGGGCAGCCCCATGGTGGTGGCTGGGGACAGCCTCATGGTGGTGGCTGGGGTCAAGGAGGTGGCACCCACAGTCAGTGGAACAAGCCGAGTAAGCCAAAAACCAACATGAAGCACATGGCTGGTGCTGCAGCAGCTGGGGCAGTGGTGGGGGGCCTTGGCGGCTACATGCTGGGAAGTGCCATGAGCAGGCCCATCATACATTTCGGCAGTGACTATGAGGACCGTTACTATCGTGAAAACATGCACCGTTACCCCAACCAAGTGTACTACAGGCCCATGGATGAGTACAGCAACCAGAACAACTTTGTGCACAACTGCGTCAATATCACAATCAAGCAGCACACGGTCACCACAACCACCAAGGGGGAGAACTTCACCGAGACCGACGTTAAGATGATGGAGCGCGTGGTTGAGCAGATGTGTATCACCCAGTACGAGAGGGAATCTCAGGCCTATTACCAGAGAGGATCGAGCATGGTCCTCTTCTCCTCTCCACCTGTGATCCTCCTGATCTCTTTCCTCATCTTCCTGATAGTGGGATGAGGAAGGTCTTCCTGTTTTCACCATCTTTCTAATCTTTTTCCAGCTTGAGGGAGGCGGTATCCACCTGCAGCCCTTTTAGTGGTGGTGTCTCACTCTTTCTTCTCTCTTTGTCCCGGATAGGCTAATCAATACCCTTGGCACTGATGGGCACTGGAAAACATAGAGTAGACCTGAGATGCTGGTCAAGCCCCCTTTGATTGAGTTCATCATGAGCCGTTGCTAATGCCAGGCCAGTAAAAGTATAACAGCAAATAACCATTGGTTAATCTGGACTTATTTTTGGACTTAGTGCAACAGGTTGAGGCTAAAACAAATCTCAGAACAGTCTGAAATACCTTTGCCTGGATACCTCTGGCTCCTTCAGCAGCTAGAGCTCAGTATACTAATGCCCTATCTTAGTAGAGATTTCATAGCTATTTAGAGATATTTTCCATTTTAAGAAAACCCGACAACATTTCTGCCAGGTTTGTTAGGAGGCCACATGATACTTATTCAAAAAAATCCTAGAGATTCTTAGCTCTTGGGATGCAGGCTCAGCCCGCTGGAGCATGAGCTCTGTGTGTACCGAGAACTGGGGTGATGTTTTACTTTTCACAGTATGGGCTACACAGCAGCTGTTCAACAAGAGTAAATATTGTCACAACACTGAACCTCTGGCTAGAGGACATATTCACAGTGAACATAACTGTAACATATATGAAAGGCTTCTGGGACTTGAAATCAAATGTTTGGGAATGGTGCCCTTGGAGGCAACCTCCCATTTTAGATGTTTAAAGGACCCTATATGTGGCATTCCTTTCTTTAAACTATAGGTAATTAAGGCAGCTGAAAAGTAAATTGCCTTCTAGACACTGAAGGCAAATCTCCTTTGTCCATTTACCTGGAAACCAGAATGATTTTGACATACAGGAGAGCTGCAGTTGTGAAAGCACCATCATCATAGAGGATGATGTAATTAAAAAATGGTCAGTGTGCAAAGAAAAGAACTGCTTGCATTTCTTTATTTCTGTCTCATAATTGTCAAAAACCAGAATTAGGTCAAGTTCATAGTTTCTGTAATTGGCTTTTGAATCAAAGAATAGGGAGACAATCTAAAAAATATCTTAGGTTGGAGATGACAGAAATATGATTGATTTGAAGTGGAAAAAGAAATTCTGTTAATGTTAATTAAAGTAAAATTATTCCCTGAATTGTTTGATATTGTCACCTAGCAGATATGTATTACTTTTCTGCAATGTTATTATTGGCTTGCACTTTGTGAGTATTCTATGTAAAAATATATATGTATATAAAATATATATTGCATAGGACAGACTTAGGAGTTTTGTTTAGAGCAGTTAACATCTGAAGTGTCTAATGCATTAACTTTTGTAAGGTACTGAATACTTAATATGTGGGAAACCCTTTTGCGTGGTCCTTAGGCTTACAATGTGCACTGAATCGTTTCATGTAAGAATCCAAAGTGGACACCATTAACAGGTCTTTGAAATATGCATGTACTTTATATTTTCTATATTTGTAACTTTGCATGTTCTTGTTTTGTTATATAAAAAAATTGTAAATGTTTAATATCTGACTGAAATTAAACGAGCGAAGATGAGCACCACCTCCCGTGTCTGCAGTTGTATTTCCTGGTGCTTGCCCTGTGTTGGGGACTGTTTTGGGGGTTAATCTGAGCCAAGTGGCGCTTTCTGTCCTCCCTTCTCAAGTGATGGCCGATGGTTCACGCACTTCCCCCTGTTCCTGCCCTTGTCCTCACTTCCCAGTCACCCACTAGTTCATCTCTGCGGCTTTTGCATTTTCTCCACAAGCATCTA
Task1_train_27692
Assess the clinical impact of this variant on gene PRNP (prion protein (Kanno blood group)), found on Chromosome 20. State whether it’s pathogenic or benign, and the disease if applicable.
Pathogenic; Huntington disease-like 1
TGTGACCCGCATATTAAGAGGAGAGCGCTCAATGGCAGCCAGGGGAGGAGCAGGGAGGCTGGTTGGGAGGCTGTTGAAGAAATCAGGTGAGAAGTGATGGAAGCACCGAATAAGATGGTCATGTTGGAAAAATTGAGAAGCTGAGGTGCTTAGCATTGATTTTCAAGGTAGAGCTACTGAGATTTGCTGATAGATCCAATGTATGCTGGGAGAGAAAATTCAGTCACTCTAGAGCATTGGCTGGATTTGTCACCCATTGCAGCGAATGGAGAAGGTGCTGACATAAAAGCCCTTTAGACTGAAAGCTACTGACTGAGGGGATGGTGCCCTAGTTTGATTTCCTGGGGTGTATGAGTAGCAGGGAGGCCAAGAGCTGGGCCTCACGAGATTGTGGGGACTACATCAGGGAAGCAGGCCTGCAAAGAACCTGCACCACAGACCCCCACCTAAAAGAGCCTCCAAAAACCCTAACTGGCATGACCTGAGTACTTTAACTCTGCTTGTAACTTTCAAATATATTTTGATTTGCTTATGACCACCAAGGCAAAACTTCCCATTTCAATAATGTTAGTAGAAACATAAACAGGATGTTAATTTATTTATTTGGTAATTCTTTTTATGAATATTATCCAGTTTAATCATTAGCTCTGAAGGAGATGAAAAATAATTTTCTAATTTTTAGAAAAATTTGCAGCTAATTGGGTGATAAAGGTAAGGGGTTTCTGAGTTCACAAAAATGTTCTAAAATTGGCAACAGTTTCGGTTGCACGTTTCATTAAATGTACTAAAAACCATTGAACTGTACATGGTATATGGTGAATTATATGGTATGTGAATTATATCTCAACAAGCTGGGTATTGTTTTTTTAAAAAATAAAAATAAAAAAGGAGAAAGAGAGAGAGAAAAACAATTGCAGATCATCCCAGCACTGAGGACAAGACTAACTTCAGTGTTCCAGTATATGCCATTATAGGTTTTACGGCACACAGTGATGATTTGGAGCCTATGATTTGACCTAGGGTACAGCAGGTACTGTTTAGCAATCATTTTACTATTGTCATAGGTCTCTGCTCTTGGAGCTAAGTGCCCAGGGTAAATGAGATCTTTAATTTGAAAAGAGATTTTTGATTTGATGAATGTACATTCTCCAAAGGGTCATAAATTGTCATTCTGGATGTTTGATCTGTTTGTTGTTTTGGTACAAAAATTAGAAGAAAATAATTCACTCATAAAATGTTAAATAATGAACTAAAAGTCATTCATCAAGTCCATAACTTAGGGTCACATTTGTCCTTGGAGCAGGAGAAAGAGTTGTGTTCACCCTTTTCTTACTTTTGCTTTTGTCCTAAGTGCTTCAGAGAAGTACAGGGTGGCAACAGTGTTTCTACTGAGCAGCTGATACCATTGCTATGCACTCATTCATTATGCAGGAAACATTTAGTAATTTCAACATAAATATGGGACTCTGACGTTCTCCTCTTCATTTTGCAGAGCAGTCATTATGGCGAACCTTGGCTGCTGGATGCTGGTTCTCTTTGTGGCCACATGGAGTGACCTGGGCCTCTGCAAGAAGCGCCCGAAGCCTGGAGGATGGAACACTGGGGGCAGCCGATACCCGGGGCAGGGCAGCCCTGGAGGCAACCGCTACCCACCTCAGGGCGGTGGTGGCTGGGGGCAGCCTCATGGTGGTGGCTGGGGGCAGCCTCATGGTGGTGGCTGGGGGCAGCCCCATGGTGGTGGCTGGGGACAGCCTCATGGTGGTGGCTGGGGTCAAGGAGGTGGCACCCACAGTCAGTGGAACAAGCCGAGTAAGCCAAAAACCAACATGAAGCACATGGCTGGTGCTGCAGCAGCTGGGGCAGTGGTGGGGGGCCTTGGCGGCTACATGCTGGGAAGTGCCATGAGCAGGCCCATCATACATTTCGGCAGTGACTATGAGGACCGTTACTATCGTGAAAACATGCACCGTTACCCCAACCAAGTGTACTACAGGCCCATGGATGAGTACAGCAACCAGAACAACTTTGTGCACGACTGCGTCAATATCACAATCAAGCAGCACACGGTCACCACAACCACCAAGGGGGAGAACTTCACCGAGACCGACGTTAAGATGATGGAGCGCGTGGTTGAGCAGATGTGTATCACCCAGTACGAGAGGGAATCTCAGGCCTATTACCAGAGAGGATCGAGCATGGTCCTCTTCTCCTCTCCACCTGTGATCCTCCTGATCTCTTTCCTCATCTTCCTGATAGTGGGATGAGGAAGGTCTTCCTGTTTTCACCATCTTTCTAATCTTTTTCCAGCTTGAGGGAGGCGGTATCCACCTGCAGCCCTTTTAGTGGTGGTGTCTCACTCTTTCTTCTCTCTTTGTCCCGGATAGGCTAATCAATACCCTTGGCACTGATGGGCACTGGAAAACATAGAGTAGACCTGAGATGCTGGTCAAGCCCCCTTTGATTGAGTTCATCATGAGCCGTTGCTAATGCCAGGCCAGTAAAAGTATAACAGCAAATAACCATTGGTTAATCTGGACTTATTTTTGGACTTAGTGCAACAGGTTGAGGCTAAAACAAATCTCAGAACAGTCTGAAATACCTTTGCCTGGATACCTCTGGCTCCTTCAGCAGCTAGAGCTCAGTATACTAATGCCCTATCTTAGTAGAGATTTCATAGCTATTTAGAGATATTTTCCATTTTAAGAAAACCCGACAACATTTCTGCCAGGTTTGTTAGGAGGCCACATGATACTTATTCAAAAAAATCCTAGAGATTCTTAGCTCTTGGGATGCAGGCTCAGCCCGCTGGAGCATGAGCTCTGTGTGTACCGAGAACTGGGGTGATGTTTTACTTTTCACAGTATGGGCTACACAGCAGCTGTTCAACAAGAGTAAATATTGTCACAACACTGAACCTCTGGCTAGAGGACATATTCACAGTGAACATAACTGTAACATATATGAAAGGCTTCTGGGACTTGAAATCAAATGTTTGGGAATGGTGCCCTTGGAGGCAACCTCCCATTTTAGATGTTTAAAGGACCCTATATGTGGCATTCCTTTCTTTAAACTATAGGTAATTAAGGCAGCTGAAAAGTAAATTGCCTTCTAGACACTGAAGGCAAATCTCCTTTGTCCATTTACCTGGAAACCAGAATGATTTTGACATACAGGAGAGCTGCAGTTGTGAAAGCACCATCATCATAGAGGATGATGTAATTAAAAAATGGTCAGTGTGCAAAGAAAAGAACTGCTTGCATTTCTTTATTTCTGTCTCATAATTGTCAAAAACCAGAATTAGGTCAAGTTCATAGTTTCTGTAATTGGCTTTTGAATCAAAGAATAGGGAGACAATCTAAAAAATATCTTAGGTTGGAGATGACAGAAATATGATTGATTTGAAGTGGAAAAAGAAATTCTGTTAATGTTAATTAAAGTAAAATTATTCCCTGAATTGTTTGATATTGTCACCTAGCAGATATGTATTACTTTTCTGCAATGTTATTATTGGCTTGCACTTTGTGAGTATTCTATGTAAAAATATATATGTATATAAAATATATATTGCATAGGACAGACTTAGGAGTTTTGTTTAGAGCAGTTAACATCTGAAGTGTCTAATGCATTAACTTTTGTAAGGTACTGAATACTTAATATGTGGGAAACCCTTTTGCGTGGTCCTTAGGCTTACAATGTGCACTGAATCGTTTCATGTAAGAATCCAAAGTGGACACCATTAACAGGTCTTTGAAATATGCATGTACTTTATATTTTCTATATTTGTAACTTTGCATGTTCTTGTTTTGTTATATAAAAAAATTGTAAATGTTTAATATCTGACTGAAATTAAACGAGCGAAGATGAGCACCACCTCCCGTGTCTGCAGTTGTATTTCCTGGTGCTTGCCCTGTGTTGGGGACTGTTTTGGGGGTTAATCTGAGCCAAGTGGCGCTTTCTGTCCTCCCTTCTCAAGTGATGGCCGATGGTTCACGCACTTCCCCCTGTTCCTGCCCTTGTCCTCACTTCCCAGTCACCCACTAGTTCATCTCTGCGGCTTTTGCATTTTCTCCACAAGCATCTAAGTGGGCTTAGCACT
TGTGACCCGCATATTAAGAGGAGAGCGCTCAATGGCAGCCAGGGGAGGAGCAGGGAGGCTGGTTGGGAGGCTGTTGAAGAAATCAGGTGAGAAGTGATGGAAGCACCGAATAAGATGGTCATGTTGGAAAAATTGAGAAGCTGAGGTGCTTAGCATTGATTTTCAAGGTAGAGCTACTGAGATTTGCTGATAGATCCAATGTATGCTGGGAGAGAAAATTCAGTCACTCTAGAGCATTGGCTGGATTTGTCACCCATTGCAGCGAATGGAGAAGGTGCTGACATAAAAGCCCTTTAGACTGAAAGCTACTGACTGAGGGGATGGTGCCCTAGTTTGATTTCCTGGGGTGTATGAGTAGCAGGGAGGCCAAGAGCTGGGCCTCACGAGATTGTGGGGACTACATCAGGGAAGCAGGCCTGCAAAGAACCTGCACCACAGACCCCCACCTAAAAGAGCCTCCAAAAACCCTAACTGGCATGACCTGAGTACTTTAACTCTGCTTGTAACTTTCAAATATATTTTGATTTGCTTATGACCACCAAGGCAAAACTTCCCATTTCAATAATGTTAGTAGAAACATAAACAGGATGTTAATTTATTTATTTGGTAATTCTTTTTATGAATATTATCCAGTTTAATCATTAGCTCTGAAGGAGATGAAAAATAATTTTCTAATTTTTAGAAAAATTTGCAGCTAATTGGGTGATAAAGGTAAGGGGTTTCTGAGTTCACAAAAATGTTCTAAAATTGGCAACAGTTTCGGTTGCACGTTTCATTAAATGTACTAAAAACCATTGAACTGTACATGGTATATGGTGAATTATATGGTATGTGAATTATATCTCAACAAGCTGGGTATTGTTTTTTTAAAAAATAAAAATAAAAAAGGAGAAAGAGAGAGAGAAAAACAATTGCAGATCATCCCAGCACTGAGGACAAGACTAACTTCAGTGTTCCAGTATATGCCATTATAGGTTTTACGGCACACAGTGATGATTTGGAGCCTATGATTTGACCTAGGGTACAGCAGGTACTGTTTAGCAATCATTTTACTATTGTCATAGGTCTCTGCTCTTGGAGCTAAGTGCCCAGGGTAAATGAGATCTTTAATTTGAAAAGAGATTTTTGATTTGATGAATGTACATTCTCCAAAGGGTCATAAATTGTCATTCTGGATGTTTGATCTGTTTGTTGTTTTGGTACAAAAATTAGAAGAAAATAATTCACTCATAAAATGTTAAATAATGAACTAAAAGTCATTCATCAAGTCCATAACTTAGGGTCACATTTGTCCTTGGAGCAGGAGAAAGAGTTGTGTTCACCCTTTTCTTACTTTTGCTTTTGTCCTAAGTGCTTCAGAGAAGTACAGGGTGGCAACAGTGTTTCTACTGAGCAGCTGATACCATTGCTATGCACTCATTCATTATGCAGGAAACATTTAGTAATTTCAACATAAATATGGGACTCTGACGTTCTCCTCTTCATTTTGCAGAGCAGTCATTATGGCGAACCTTGGCTGCTGGATGCTGGTTCTCTTTGTGGCCACATGGAGTGACCTGGGCCTCTGCAAGAAGCGCCCGAAGCCTGGAGGATGGAACACTGGGGGCAGCCGATACCCGGGGCAGGGCAGCCCTGGAGGCAACCGCTACCCACCTCAGGGCGGTGGTGGCTGGGGGCAGCCTCATGGTGGTGGCTGGGGGCAGCCTCATGGTGGTGGCTGGGGGCAGCCCCATGGTGGTGGCTGGGGACAGCCTCATGGTGGTGGCTGGGGTCAAGGAGGTGGCACCCACAGTCAGTGGAACAAGCCGAGTAAGCCAAAAACCAACATGAAGCACATGGCTGGTGCTGCAGCAGCTGGGGCAGTGGTGGGGGGCCTTGGCGGCTACATGCTGGGAAGTGCCATGAGCAGGCCCATCATACATTTCGGCAGTGACTATGAGGACCGTTACTATCGTGAAAACATGCACCGTTACCCCAACCAAGTGTACTACAGGCCCATGGATGAGTACAGCAACCAGAACAACTTTGTGCACGACTGCGTCAATATCGCAATCAAGCAGCACACGGTCACCACAACCACCAAGGGGGAGAACTTCACCGAGACCGACGTTAAGATGATGGAGCGCGTGGTTGAGCAGATGTGTATCACCCAGTACGAGAGGGAATCTCAGGCCTATTACCAGAGAGGATCGAGCATGGTCCTCTTCTCCTCTCCACCTGTGATCCTCCTGATCTCTTTCCTCATCTTCCTGATAGTGGGATGAGGAAGGTCTTCCTGTTTTCACCATCTTTCTAATCTTTTTCCAGCTTGAGGGAGGCGGTATCCACCTGCAGCCCTTTTAGTGGTGGTGTCTCACTCTTTCTTCTCTCTTTGTCCCGGATAGGCTAATCAATACCCTTGGCACTGATGGGCACTGGAAAACATAGAGTAGACCTGAGATGCTGGTCAAGCCCCCTTTGATTGAGTTCATCATGAGCCGTTGCTAATGCCAGGCCAGTAAAAGTATAACAGCAAATAACCATTGGTTAATCTGGACTTATTTTTGGACTTAGTGCAACAGGTTGAGGCTAAAACAAATCTCAGAACAGTCTGAAATACCTTTGCCTGGATACCTCTGGCTCCTTCAGCAGCTAGAGCTCAGTATACTAATGCCCTATCTTAGTAGAGATTTCATAGCTATTTAGAGATATTTTCCATTTTAAGAAAACCCGACAACATTTCTGCCAGGTTTGTTAGGAGGCCACATGATACTTATTCAAAAAAATCCTAGAGATTCTTAGCTCTTGGGATGCAGGCTCAGCCCGCTGGAGCATGAGCTCTGTGTGTACCGAGAACTGGGGTGATGTTTTACTTTTCACAGTATGGGCTACACAGCAGCTGTTCAACAAGAGTAAATATTGTCACAACACTGAACCTCTGGCTAGAGGACATATTCACAGTGAACATAACTGTAACATATATGAAAGGCTTCTGGGACTTGAAATCAAATGTTTGGGAATGGTGCCCTTGGAGGCAACCTCCCATTTTAGATGTTTAAAGGACCCTATATGTGGCATTCCTTTCTTTAAACTATAGGTAATTAAGGCAGCTGAAAAGTAAATTGCCTTCTAGACACTGAAGGCAAATCTCCTTTGTCCATTTACCTGGAAACCAGAATGATTTTGACATACAGGAGAGCTGCAGTTGTGAAAGCACCATCATCATAGAGGATGATGTAATTAAAAAATGGTCAGTGTGCAAAGAAAAGAACTGCTTGCATTTCTTTATTTCTGTCTCATAATTGTCAAAAACCAGAATTAGGTCAAGTTCATAGTTTCTGTAATTGGCTTTTGAATCAAAGAATAGGGAGACAATCTAAAAAATATCTTAGGTTGGAGATGACAGAAATATGATTGATTTGAAGTGGAAAAAGAAATTCTGTTAATGTTAATTAAAGTAAAATTATTCCCTGAATTGTTTGATATTGTCACCTAGCAGATATGTATTACTTTTCTGCAATGTTATTATTGGCTTGCACTTTGTGAGTATTCTATGTAAAAATATATATGTATATAAAATATATATTGCATAGGACAGACTTAGGAGTTTTGTTTAGAGCAGTTAACATCTGAAGTGTCTAATGCATTAACTTTTGTAAGGTACTGAATACTTAATATGTGGGAAACCCTTTTGCGTGGTCCTTAGGCTTACAATGTGCACTGAATCGTTTCATGTAAGAATCCAAAGTGGACACCATTAACAGGTCTTTGAAATATGCATGTACTTTATATTTTCTATATTTGTAACTTTGCATGTTCTTGTTTTGTTATATAAAAAAATTGTAAATGTTTAATATCTGACTGAAATTAAACGAGCGAAGATGAGCACCACCTCCCGTGTCTGCAGTTGTATTTCCTGGTGCTTGCCCTGTGTTGGGGACTGTTTTGGGGGTTAATCTGAGCCAAGTGGCGCTTTCTGTCCTCCCTTCTCAAGTGATGGCCGATGGTTCACGCACTTCCCCCTGTTCCTGCCCTTGTCCTCACTTCCCAGTCACCCACTAGTTCATCTCTGCGGCTTTTGCATTTTCTCCACAAGCATCTAAGTGGGCTTAGCACT
Task1_train_27693
This alteration in PRNP (prion protein (Kanno blood group)) on Chromosome 20 may affect gene function. Does it lead to a disease or is it benign?
Pathogenic; Gerstmann-Straussler-Scheinker syndrome
TTAAGAGGAGAGCGCTCAATGGCAGCCAGGGGAGGAGCAGGGAGGCTGGTTGGGAGGCTGTTGAAGAAATCAGGTGAGAAGTGATGGAAGCACCGAATAAGATGGTCATGTTGGAAAAATTGAGAAGCTGAGGTGCTTAGCATTGATTTTCAAGGTAGAGCTACTGAGATTTGCTGATAGATCCAATGTATGCTGGGAGAGAAAATTCAGTCACTCTAGAGCATTGGCTGGATTTGTCACCCATTGCAGCGAATGGAGAAGGTGCTGACATAAAAGCCCTTTAGACTGAAAGCTACTGACTGAGGGGATGGTGCCCTAGTTTGATTTCCTGGGGTGTATGAGTAGCAGGGAGGCCAAGAGCTGGGCCTCACGAGATTGTGGGGACTACATCAGGGAAGCAGGCCTGCAAAGAACCTGCACCACAGACCCCCACCTAAAAGAGCCTCCAAAAACCCTAACTGGCATGACCTGAGTACTTTAACTCTGCTTGTAACTTTCAAATATATTTTGATTTGCTTATGACCACCAAGGCAAAACTTCCCATTTCAATAATGTTAGTAGAAACATAAACAGGATGTTAATTTATTTATTTGGTAATTCTTTTTATGAATATTATCCAGTTTAATCATTAGCTCTGAAGGAGATGAAAAATAATTTTCTAATTTTTAGAAAAATTTGCAGCTAATTGGGTGATAAAGGTAAGGGGTTTCTGAGTTCACAAAAATGTTCTAAAATTGGCAACAGTTTCGGTTGCACGTTTCATTAAATGTACTAAAAACCATTGAACTGTACATGGTATATGGTGAATTATATGGTATGTGAATTATATCTCAACAAGCTGGGTATTGTTTTTTTAAAAAATAAAAATAAAAAAGGAGAAAGAGAGAGAGAAAAACAATTGCAGATCATCCCAGCACTGAGGACAAGACTAACTTCAGTGTTCCAGTATATGCCATTATAGGTTTTACGGCACACAGTGATGATTTGGAGCCTATGATTTGACCTAGGGTACAGCAGGTACTGTTTAGCAATCATTTTACTATTGTCATAGGTCTCTGCTCTTGGAGCTAAGTGCCCAGGGTAAATGAGATCTTTAATTTGAAAAGAGATTTTTGATTTGATGAATGTACATTCTCCAAAGGGTCATAAATTGTCATTCTGGATGTTTGATCTGTTTGTTGTTTTGGTACAAAAATTAGAAGAAAATAATTCACTCATAAAATGTTAAATAATGAACTAAAAGTCATTCATCAAGTCCATAACTTAGGGTCACATTTGTCCTTGGAGCAGGAGAAAGAGTTGTGTTCACCCTTTTCTTACTTTTGCTTTTGTCCTAAGTGCTTCAGAGAAGTACAGGGTGGCAACAGTGTTTCTACTGAGCAGCTGATACCATTGCTATGCACTCATTCATTATGCAGGAAACATTTAGTAATTTCAACATAAATATGGGACTCTGACGTTCTCCTCTTCATTTTGCAGAGCAGTCATTATGGCGAACCTTGGCTGCTGGATGCTGGTTCTCTTTGTGGCCACATGGAGTGACCTGGGCCTCTGCAAGAAGCGCCCGAAGCCTGGAGGATGGAACACTGGGGGCAGCCGATACCCGGGGCAGGGCAGCCCTGGAGGCAACCGCTACCCACCTCAGGGCGGTGGTGGCTGGGGGCAGCCTCATGGTGGTGGCTGGGGGCAGCCTCATGGTGGTGGCTGGGGGCAGCCCCATGGTGGTGGCTGGGGACAGCCTCATGGTGGTGGCTGGGGTCAAGGAGGTGGCACCCACAGTCAGTGGAACAAGCCGAGTAAGCCAAAAACCAACATGAAGCACATGGCTGGTGCTGCAGCAGCTGGGGCAGTGGTGGGGGGCCTTGGCGGCTACATGCTGGGAAGTGCCATGAGCAGGCCCATCATACATTTCGGCAGTGACTATGAGGACCGTTACTATCGTGAAAACATGCACCGTTACCCCAACCAAGTGTACTACAGGCCCATGGATGAGTACAGCAACCAGAACAACTTTGTGCACGACTGCGTCAATATCACAATCAAGCAGCACACGGTCACCACAACCACCAAGGGGGAGAACTTCACCGAGACCGACGTTAAGATGATGGAGCGCGTGGTTGAGCAGATGTGTATCACCCAGTACGAGAGGGAATCTCAGGCCTATTACCAGAGAGGATCGAGCATGGTCCTCTTCTCCTCTCCACCTGTGATCCTCCTGATCTCTTTCCTCATCTTCCTGATAGTGGGATGAGGAAGGTCTTCCTGTTTTCACCATCTTTCTAATCTTTTTCCAGCTTGAGGGAGGCGGTATCCACCTGCAGCCCTTTTAGTGGTGGTGTCTCACTCTTTCTTCTCTCTTTGTCCCGGATAGGCTAATCAATACCCTTGGCACTGATGGGCACTGGAAAACATAGAGTAGACCTGAGATGCTGGTCAAGCCCCCTTTGATTGAGTTCATCATGAGCCGTTGCTAATGCCAGGCCAGTAAAAGTATAACAGCAAATAACCATTGGTTAATCTGGACTTATTTTTGGACTTAGTGCAACAGGTTGAGGCTAAAACAAATCTCAGAACAGTCTGAAATACCTTTGCCTGGATACCTCTGGCTCCTTCAGCAGCTAGAGCTCAGTATACTAATGCCCTATCTTAGTAGAGATTTCATAGCTATTTAGAGATATTTTCCATTTTAAGAAAACCCGACAACATTTCTGCCAGGTTTGTTAGGAGGCCACATGATACTTATTCAAAAAAATCCTAGAGATTCTTAGCTCTTGGGATGCAGGCTCAGCCCGCTGGAGCATGAGCTCTGTGTGTACCGAGAACTGGGGTGATGTTTTACTTTTCACAGTATGGGCTACACAGCAGCTGTTCAACAAGAGTAAATATTGTCACAACACTGAACCTCTGGCTAGAGGACATATTCACAGTGAACATAACTGTAACATATATGAAAGGCTTCTGGGACTTGAAATCAAATGTTTGGGAATGGTGCCCTTGGAGGCAACCTCCCATTTTAGATGTTTAAAGGACCCTATATGTGGCATTCCTTTCTTTAAACTATAGGTAATTAAGGCAGCTGAAAAGTAAATTGCCTTCTAGACACTGAAGGCAAATCTCCTTTGTCCATTTACCTGGAAACCAGAATGATTTTGACATACAGGAGAGCTGCAGTTGTGAAAGCACCATCATCATAGAGGATGATGTAATTAAAAAATGGTCAGTGTGCAAAGAAAAGAACTGCTTGCATTTCTTTATTTCTGTCTCATAATTGTCAAAAACCAGAATTAGGTCAAGTTCATAGTTTCTGTAATTGGCTTTTGAATCAAAGAATAGGGAGACAATCTAAAAAATATCTTAGGTTGGAGATGACAGAAATATGATTGATTTGAAGTGGAAAAAGAAATTCTGTTAATGTTAATTAAAGTAAAATTATTCCCTGAATTGTTTGATATTGTCACCTAGCAGATATGTATTACTTTTCTGCAATGTTATTATTGGCTTGCACTTTGTGAGTATTCTATGTAAAAATATATATGTATATAAAATATATATTGCATAGGACAGACTTAGGAGTTTTGTTTAGAGCAGTTAACATCTGAAGTGTCTAATGCATTAACTTTTGTAAGGTACTGAATACTTAATATGTGGGAAACCCTTTTGCGTGGTCCTTAGGCTTACAATGTGCACTGAATCGTTTCATGTAAGAATCCAAAGTGGACACCATTAACAGGTCTTTGAAATATGCATGTACTTTATATTTTCTATATTTGTAACTTTGCATGTTCTTGTTTTGTTATATAAAAAAATTGTAAATGTTTAATATCTGACTGAAATTAAACGAGCGAAGATGAGCACCACCTCCCGTGTCTGCAGTTGTATTTCCTGGTGCTTGCCCTGTGTTGGGGACTGTTTTGGGGGTTAATCTGAGCCAAGTGGCGCTTTCTGTCCTCCCTTCTCAAGTGATGGCCGATGGTTCACGCACTTCCCCCTGTTCCTGCCCTTGTCCTCACTTCCCAGTCACCCACTAGTTCATCTCTGCGGCTTTTGCATTTTCTCCACAAGCATCTAAGTGGGCTTAGCACTGGTAAACTGCAAA
TTAAGAGGAGAGCGCTCAATGGCAGCCAGGGGAGGAGCAGGGAGGCTGGTTGGGAGGCTGTTGAAGAAATCAGGTGAGAAGTGATGGAAGCACCGAATAAGATGGTCATGTTGGAAAAATTGAGAAGCTGAGGTGCTTAGCATTGATTTTCAAGGTAGAGCTACTGAGATTTGCTGATAGATCCAATGTATGCTGGGAGAGAAAATTCAGTCACTCTAGAGCATTGGCTGGATTTGTCACCCATTGCAGCGAATGGAGAAGGTGCTGACATAAAAGCCCTTTAGACTGAAAGCTACTGACTGAGGGGATGGTGCCCTAGTTTGATTTCCTGGGGTGTATGAGTAGCAGGGAGGCCAAGAGCTGGGCCTCACGAGATTGTGGGGACTACATCAGGGAAGCAGGCCTGCAAAGAACCTGCACCACAGACCCCCACCTAAAAGAGCCTCCAAAAACCCTAACTGGCATGACCTGAGTACTTTAACTCTGCTTGTAACTTTCAAATATATTTTGATTTGCTTATGACCACCAAGGCAAAACTTCCCATTTCAATAATGTTAGTAGAAACATAAACAGGATGTTAATTTATTTATTTGGTAATTCTTTTTATGAATATTATCCAGTTTAATCATTAGCTCTGAAGGAGATGAAAAATAATTTTCTAATTTTTAGAAAAATTTGCAGCTAATTGGGTGATAAAGGTAAGGGGTTTCTGAGTTCACAAAAATGTTCTAAAATTGGCAACAGTTTCGGTTGCACGTTTCATTAAATGTACTAAAAACCATTGAACTGTACATGGTATATGGTGAATTATATGGTATGTGAATTATATCTCAACAAGCTGGGTATTGTTTTTTTAAAAAATAAAAATAAAAAAGGAGAAAGAGAGAGAGAAAAACAATTGCAGATCATCCCAGCACTGAGGACAAGACTAACTTCAGTGTTCCAGTATATGCCATTATAGGTTTTACGGCACACAGTGATGATTTGGAGCCTATGATTTGACCTAGGGTACAGCAGGTACTGTTTAGCAATCATTTTACTATTGTCATAGGTCTCTGCTCTTGGAGCTAAGTGCCCAGGGTAAATGAGATCTTTAATTTGAAAAGAGATTTTTGATTTGATGAATGTACATTCTCCAAAGGGTCATAAATTGTCATTCTGGATGTTTGATCTGTTTGTTGTTTTGGTACAAAAATTAGAAGAAAATAATTCACTCATAAAATGTTAAATAATGAACTAAAAGTCATTCATCAAGTCCATAACTTAGGGTCACATTTGTCCTTGGAGCAGGAGAAAGAGTTGTGTTCACCCTTTTCTTACTTTTGCTTTTGTCCTAAGTGCTTCAGAGAAGTACAGGGTGGCAACAGTGTTTCTACTGAGCAGCTGATACCATTGCTATGCACTCATTCATTATGCAGGAAACATTTAGTAATTTCAACATAAATATGGGACTCTGACGTTCTCCTCTTCATTTTGCAGAGCAGTCATTATGGCGAACCTTGGCTGCTGGATGCTGGTTCTCTTTGTGGCCACATGGAGTGACCTGGGCCTCTGCAAGAAGCGCCCGAAGCCTGGAGGATGGAACACTGGGGGCAGCCGATACCCGGGGCAGGGCAGCCCTGGAGGCAACCGCTACCCACCTCAGGGCGGTGGTGGCTGGGGGCAGCCTCATGGTGGTGGCTGGGGGCAGCCTCATGGTGGTGGCTGGGGGCAGCCCCATGGTGGTGGCTGGGGACAGCCTCATGGTGGTGGCTGGGGTCAAGGAGGTGGCACCCACAGTCAGTGGAACAAGCCGAGTAAGCCAAAAACCAACATGAAGCACATGGCTGGTGCTGCAGCAGCTGGGGCAGTGGTGGGGGGCCTTGGCGGCTACATGCTGGGAAGTGCCATGAGCAGGCCCATCATACATTTCGGCAGTGACTATGAGGACCGTTACTATCGTGAAAACATGCACCGTTACCCCAACCAAGTGTACTACAGGCCCATGGATGAGTACAGCAACCAGAACAACTTTGTGCACGACTGCGTCAATATCACAATCAAGCAGCGCACGGTCACCACAACCACCAAGGGGGAGAACTTCACCGAGACCGACGTTAAGATGATGGAGCGCGTGGTTGAGCAGATGTGTATCACCCAGTACGAGAGGGAATCTCAGGCCTATTACCAGAGAGGATCGAGCATGGTCCTCTTCTCCTCTCCACCTGTGATCCTCCTGATCTCTTTCCTCATCTTCCTGATAGTGGGATGAGGAAGGTCTTCCTGTTTTCACCATCTTTCTAATCTTTTTCCAGCTTGAGGGAGGCGGTATCCACCTGCAGCCCTTTTAGTGGTGGTGTCTCACTCTTTCTTCTCTCTTTGTCCCGGATAGGCTAATCAATACCCTTGGCACTGATGGGCACTGGAAAACATAGAGTAGACCTGAGATGCTGGTCAAGCCCCCTTTGATTGAGTTCATCATGAGCCGTTGCTAATGCCAGGCCAGTAAAAGTATAACAGCAAATAACCATTGGTTAATCTGGACTTATTTTTGGACTTAGTGCAACAGGTTGAGGCTAAAACAAATCTCAGAACAGTCTGAAATACCTTTGCCTGGATACCTCTGGCTCCTTCAGCAGCTAGAGCTCAGTATACTAATGCCCTATCTTAGTAGAGATTTCATAGCTATTTAGAGATATTTTCCATTTTAAGAAAACCCGACAACATTTCTGCCAGGTTTGTTAGGAGGCCACATGATACTTATTCAAAAAAATCCTAGAGATTCTTAGCTCTTGGGATGCAGGCTCAGCCCGCTGGAGCATGAGCTCTGTGTGTACCGAGAACTGGGGTGATGTTTTACTTTTCACAGTATGGGCTACACAGCAGCTGTTCAACAAGAGTAAATATTGTCACAACACTGAACCTCTGGCTAGAGGACATATTCACAGTGAACATAACTGTAACATATATGAAAGGCTTCTGGGACTTGAAATCAAATGTTTGGGAATGGTGCCCTTGGAGGCAACCTCCCATTTTAGATGTTTAAAGGACCCTATATGTGGCATTCCTTTCTTTAAACTATAGGTAATTAAGGCAGCTGAAAAGTAAATTGCCTTCTAGACACTGAAGGCAAATCTCCTTTGTCCATTTACCTGGAAACCAGAATGATTTTGACATACAGGAGAGCTGCAGTTGTGAAAGCACCATCATCATAGAGGATGATGTAATTAAAAAATGGTCAGTGTGCAAAGAAAAGAACTGCTTGCATTTCTTTATTTCTGTCTCATAATTGTCAAAAACCAGAATTAGGTCAAGTTCATAGTTTCTGTAATTGGCTTTTGAATCAAAGAATAGGGAGACAATCTAAAAAATATCTTAGGTTGGAGATGACAGAAATATGATTGATTTGAAGTGGAAAAAGAAATTCTGTTAATGTTAATTAAAGTAAAATTATTCCCTGAATTGTTTGATATTGTCACCTAGCAGATATGTATTACTTTTCTGCAATGTTATTATTGGCTTGCACTTTGTGAGTATTCTATGTAAAAATATATATGTATATAAAATATATATTGCATAGGACAGACTTAGGAGTTTTGTTTAGAGCAGTTAACATCTGAAGTGTCTAATGCATTAACTTTTGTAAGGTACTGAATACTTAATATGTGGGAAACCCTTTTGCGTGGTCCTTAGGCTTACAATGTGCACTGAATCGTTTCATGTAAGAATCCAAAGTGGACACCATTAACAGGTCTTTGAAATATGCATGTACTTTATATTTTCTATATTTGTAACTTTGCATGTTCTTGTTTTGTTATATAAAAAAATTGTAAATGTTTAATATCTGACTGAAATTAAACGAGCGAAGATGAGCACCACCTCCCGTGTCTGCAGTTGTATTTCCTGGTGCTTGCCCTGTGTTGGGGACTGTTTTGGGGGTTAATCTGAGCCAAGTGGCGCTTTCTGTCCTCCCTTCTCAAGTGATGGCCGATGGTTCACGCACTTCCCCCTGTTCCTGCCCTTGTCCTCACTTCCCAGTCACCCACTAGTTCATCTCTGCGGCTTTTGCATTTTCTCCACAAGCATCTAAGTGGGCTTAGCACTGGTAAACTGCAAA
Task1_train_27694
A variant on Chromosome 20 in gene PRNP (prion protein (Kanno blood group)) has been observed. Is this a neutral mutation, or does it result in a disease? If so, which one?
Pathogenic; Spongiform encephalopathy with neuropsychiatric features
TTAAGAGGAGAGCGCTCAATGGCAGCCAGGGGAGGAGCAGGGAGGCTGGTTGGGAGGCTGTTGAAGAAATCAGGTGAGAAGTGATGGAAGCACCGAATAAGATGGTCATGTTGGAAAAATTGAGAAGCTGAGGTGCTTAGCATTGATTTTCAAGGTAGAGCTACTGAGATTTGCTGATAGATCCAATGTATGCTGGGAGAGAAAATTCAGTCACTCTAGAGCATTGGCTGGATTTGTCACCCATTGCAGCGAATGGAGAAGGTGCTGACATAAAAGCCCTTTAGACTGAAAGCTACTGACTGAGGGGATGGTGCCCTAGTTTGATTTCCTGGGGTGTATGAGTAGCAGGGAGGCCAAGAGCTGGGCCTCACGAGATTGTGGGGACTACATCAGGGAAGCAGGCCTGCAAAGAACCTGCACCACAGACCCCCACCTAAAAGAGCCTCCAAAAACCCTAACTGGCATGACCTGAGTACTTTAACTCTGCTTGTAACTTTCAAATATATTTTGATTTGCTTATGACCACCAAGGCAAAACTTCCCATTTCAATAATGTTAGTAGAAACATAAACAGGATGTTAATTTATTTATTTGGTAATTCTTTTTATGAATATTATCCAGTTTAATCATTAGCTCTGAAGGAGATGAAAAATAATTTTCTAATTTTTAGAAAAATTTGCAGCTAATTGGGTGATAAAGGTAAGGGGTTTCTGAGTTCACAAAAATGTTCTAAAATTGGCAACAGTTTCGGTTGCACGTTTCATTAAATGTACTAAAAACCATTGAACTGTACATGGTATATGGTGAATTATATGGTATGTGAATTATATCTCAACAAGCTGGGTATTGTTTTTTTAAAAAATAAAAATAAAAAAGGAGAAAGAGAGAGAGAAAAACAATTGCAGATCATCCCAGCACTGAGGACAAGACTAACTTCAGTGTTCCAGTATATGCCATTATAGGTTTTACGGCACACAGTGATGATTTGGAGCCTATGATTTGACCTAGGGTACAGCAGGTACTGTTTAGCAATCATTTTACTATTGTCATAGGTCTCTGCTCTTGGAGCTAAGTGCCCAGGGTAAATGAGATCTTTAATTTGAAAAGAGATTTTTGATTTGATGAATGTACATTCTCCAAAGGGTCATAAATTGTCATTCTGGATGTTTGATCTGTTTGTTGTTTTGGTACAAAAATTAGAAGAAAATAATTCACTCATAAAATGTTAAATAATGAACTAAAAGTCATTCATCAAGTCCATAACTTAGGGTCACATTTGTCCTTGGAGCAGGAGAAAGAGTTGTGTTCACCCTTTTCTTACTTTTGCTTTTGTCCTAAGTGCTTCAGAGAAGTACAGGGTGGCAACAGTGTTTCTACTGAGCAGCTGATACCATTGCTATGCACTCATTCATTATGCAGGAAACATTTAGTAATTTCAACATAAATATGGGACTCTGACGTTCTCCTCTTCATTTTGCAGAGCAGTCATTATGGCGAACCTTGGCTGCTGGATGCTGGTTCTCTTTGTGGCCACATGGAGTGACCTGGGCCTCTGCAAGAAGCGCCCGAAGCCTGGAGGATGGAACACTGGGGGCAGCCGATACCCGGGGCAGGGCAGCCCTGGAGGCAACCGCTACCCACCTCAGGGCGGTGGTGGCTGGGGGCAGCCTCATGGTGGTGGCTGGGGGCAGCCTCATGGTGGTGGCTGGGGGCAGCCCCATGGTGGTGGCTGGGGACAGCCTCATGGTGGTGGCTGGGGTCAAGGAGGTGGCACCCACAGTCAGTGGAACAAGCCGAGTAAGCCAAAAACCAACATGAAGCACATGGCTGGTGCTGCAGCAGCTGGGGCAGTGGTGGGGGGCCTTGGCGGCTACATGCTGGGAAGTGCCATGAGCAGGCCCATCATACATTTCGGCAGTGACTATGAGGACCGTTACTATCGTGAAAACATGCACCGTTACCCCAACCAAGTGTACTACAGGCCCATGGATGAGTACAGCAACCAGAACAACTTTGTGCACGACTGCGTCAATATCACAATCAAGCAGCACACGGTCACCACAACCACCAAGGGGGAGAACTTCACCGAGACCGACGTTAAGATGATGGAGCGCGTGGTTGAGCAGATGTGTATCACCCAGTACGAGAGGGAATCTCAGGCCTATTACCAGAGAGGATCGAGCATGGTCCTCTTCTCCTCTCCACCTGTGATCCTCCTGATCTCTTTCCTCATCTTCCTGATAGTGGGATGAGGAAGGTCTTCCTGTTTTCACCATCTTTCTAATCTTTTTCCAGCTTGAGGGAGGCGGTATCCACCTGCAGCCCTTTTAGTGGTGGTGTCTCACTCTTTCTTCTCTCTTTGTCCCGGATAGGCTAATCAATACCCTTGGCACTGATGGGCACTGGAAAACATAGAGTAGACCTGAGATGCTGGTCAAGCCCCCTTTGATTGAGTTCATCATGAGCCGTTGCTAATGCCAGGCCAGTAAAAGTATAACAGCAAATAACCATTGGTTAATCTGGACTTATTTTTGGACTTAGTGCAACAGGTTGAGGCTAAAACAAATCTCAGAACAGTCTGAAATACCTTTGCCTGGATACCTCTGGCTCCTTCAGCAGCTAGAGCTCAGTATACTAATGCCCTATCTTAGTAGAGATTTCATAGCTATTTAGAGATATTTTCCATTTTAAGAAAACCCGACAACATTTCTGCCAGGTTTGTTAGGAGGCCACATGATACTTATTCAAAAAAATCCTAGAGATTCTTAGCTCTTGGGATGCAGGCTCAGCCCGCTGGAGCATGAGCTCTGTGTGTACCGAGAACTGGGGTGATGTTTTACTTTTCACAGTATGGGCTACACAGCAGCTGTTCAACAAGAGTAAATATTGTCACAACACTGAACCTCTGGCTAGAGGACATATTCACAGTGAACATAACTGTAACATATATGAAAGGCTTCTGGGACTTGAAATCAAATGTTTGGGAATGGTGCCCTTGGAGGCAACCTCCCATTTTAGATGTTTAAAGGACCCTATATGTGGCATTCCTTTCTTTAAACTATAGGTAATTAAGGCAGCTGAAAAGTAAATTGCCTTCTAGACACTGAAGGCAAATCTCCTTTGTCCATTTACCTGGAAACCAGAATGATTTTGACATACAGGAGAGCTGCAGTTGTGAAAGCACCATCATCATAGAGGATGATGTAATTAAAAAATGGTCAGTGTGCAAAGAAAAGAACTGCTTGCATTTCTTTATTTCTGTCTCATAATTGTCAAAAACCAGAATTAGGTCAAGTTCATAGTTTCTGTAATTGGCTTTTGAATCAAAGAATAGGGAGACAATCTAAAAAATATCTTAGGTTGGAGATGACAGAAATATGATTGATTTGAAGTGGAAAAAGAAATTCTGTTAATGTTAATTAAAGTAAAATTATTCCCTGAATTGTTTGATATTGTCACCTAGCAGATATGTATTACTTTTCTGCAATGTTATTATTGGCTTGCACTTTGTGAGTATTCTATGTAAAAATATATATGTATATAAAATATATATTGCATAGGACAGACTTAGGAGTTTTGTTTAGAGCAGTTAACATCTGAAGTGTCTAATGCATTAACTTTTGTAAGGTACTGAATACTTAATATGTGGGAAACCCTTTTGCGTGGTCCTTAGGCTTACAATGTGCACTGAATCGTTTCATGTAAGAATCCAAAGTGGACACCATTAACAGGTCTTTGAAATATGCATGTACTTTATATTTTCTATATTTGTAACTTTGCATGTTCTTGTTTTGTTATATAAAAAAATTGTAAATGTTTAATATCTGACTGAAATTAAACGAGCGAAGATGAGCACCACCTCCCGTGTCTGCAGTTGTATTTCCTGGTGCTTGCCCTGTGTTGGGGACTGTTTTGGGGGTTAATCTGAGCCAAGTGGCGCTTTCTGTCCTCCCTTCTCAAGTGATGGCCGATGGTTCACGCACTTCCCCCTGTTCCTGCCCTTGTCCTCACTTCCCAGTCACCCACTAGTTCATCTCTGCGGCTTTTGCATTTTCTCCACAAGCATCTAAGTGGGCTTAGCACTGGTAAACTGCAAA
TTAAGAGGAGAGCGCTCAATGGCAGCCAGGGGAGGAGCAGGGAGGCTGGTTGGGAGGCTGTTGAAGAAATCAGGTGAGAAGTGATGGAAGCACCGAATAAGATGGTCATGTTGGAAAAATTGAGAAGCTGAGGTGCTTAGCATTGATTTTCAAGGTAGAGCTACTGAGATTTGCTGATAGATCCAATGTATGCTGGGAGAGAAAATTCAGTCACTCTAGAGCATTGGCTGGATTTGTCACCCATTGCAGCGAATGGAGAAGGTGCTGACATAAAAGCCCTTTAGACTGAAAGCTACTGACTGAGGGGATGGTGCCCTAGTTTGATTTCCTGGGGTGTATGAGTAGCAGGGAGGCCAAGAGCTGGGCCTCACGAGATTGTGGGGACTACATCAGGGAAGCAGGCCTGCAAAGAACCTGCACCACAGACCCCCACCTAAAAGAGCCTCCAAAAACCCTAACTGGCATGACCTGAGTACTTTAACTCTGCTTGTAACTTTCAAATATATTTTGATTTGCTTATGACCACCAAGGCAAAACTTCCCATTTCAATAATGTTAGTAGAAACATAAACAGGATGTTAATTTATTTATTTGGTAATTCTTTTTATGAATATTATCCAGTTTAATCATTAGCTCTGAAGGAGATGAAAAATAATTTTCTAATTTTTAGAAAAATTTGCAGCTAATTGGGTGATAAAGGTAAGGGGTTTCTGAGTTCACAAAAATGTTCTAAAATTGGCAACAGTTTCGGTTGCACGTTTCATTAAATGTACTAAAAACCATTGAACTGTACATGGTATATGGTGAATTATATGGTATGTGAATTATATCTCAACAAGCTGGGTATTGTTTTTTTAAAAAATAAAAATAAAAAAGGAGAAAGAGAGAGAGAAAAACAATTGCAGATCATCCCAGCACTGAGGACAAGACTAACTTCAGTGTTCCAGTATATGCCATTATAGGTTTTACGGCACACAGTGATGATTTGGAGCCTATGATTTGACCTAGGGTACAGCAGGTACTGTTTAGCAATCATTTTACTATTGTCATAGGTCTCTGCTCTTGGAGCTAAGTGCCCAGGGTAAATGAGATCTTTAATTTGAAAAGAGATTTTTGATTTGATGAATGTACATTCTCCAAAGGGTCATAAATTGTCATTCTGGATGTTTGATCTGTTTGTTGTTTTGGTACAAAAATTAGAAGAAAATAATTCACTCATAAAATGTTAAATAATGAACTAAAAGTCATTCATCAAGTCCATAACTTAGGGTCACATTTGTCCTTGGAGCAGGAGAAAGAGTTGTGTTCACCCTTTTCTTACTTTTGCTTTTGTCCTAAGTGCTTCAGAGAAGTACAGGGTGGCAACAGTGTTTCTACTGAGCAGCTGATACCATTGCTATGCACTCATTCATTATGCAGGAAACATTTAGTAATTTCAACATAAATATGGGACTCTGACGTTCTCCTCTTCATTTTGCAGAGCAGTCATTATGGCGAACCTTGGCTGCTGGATGCTGGTTCTCTTTGTGGCCACATGGAGTGACCTGGGCCTCTGCAAGAAGCGCCCGAAGCCTGGAGGATGGAACACTGGGGGCAGCCGATACCCGGGGCAGGGCAGCCCTGGAGGCAACCGCTACCCACCTCAGGGCGGTGGTGGCTGGGGGCAGCCTCATGGTGGTGGCTGGGGGCAGCCTCATGGTGGTGGCTGGGGGCAGCCCCATGGTGGTGGCTGGGGACAGCCTCATGGTGGTGGCTGGGGTCAAGGAGGTGGCACCCACAGTCAGTGGAACAAGCCGAGTAAGCCAAAAACCAACATGAAGCACATGGCTGGTGCTGCAGCAGCTGGGGCAGTGGTGGGGGGCCTTGGCGGCTACATGCTGGGAAGTGCCATGAGCAGGCCCATCATACATTTCGGCAGTGACTATGAGGACCGTTACTATCGTGAAAACATGCACCGTTACCCCAACCAAGTGTACTACAGGCCCATGGATGAGTACAGCAACCAGAACAACTTTGTGCACGACTGCGTCAATATCACAATCAAGCAGCGCACGGTCACCACAACCACCAAGGGGGAGAACTTCACCGAGACCGACGTTAAGATGATGGAGCGCGTGGTTGAGCAGATGTGTATCACCCAGTACGAGAGGGAATCTCAGGCCTATTACCAGAGAGGATCGAGCATGGTCCTCTTCTCCTCTCCACCTGTGATCCTCCTGATCTCTTTCCTCATCTTCCTGATAGTGGGATGAGGAAGGTCTTCCTGTTTTCACCATCTTTCTAATCTTTTTCCAGCTTGAGGGAGGCGGTATCCACCTGCAGCCCTTTTAGTGGTGGTGTCTCACTCTTTCTTCTCTCTTTGTCCCGGATAGGCTAATCAATACCCTTGGCACTGATGGGCACTGGAAAACATAGAGTAGACCTGAGATGCTGGTCAAGCCCCCTTTGATTGAGTTCATCATGAGCCGTTGCTAATGCCAGGCCAGTAAAAGTATAACAGCAAATAACCATTGGTTAATCTGGACTTATTTTTGGACTTAGTGCAACAGGTTGAGGCTAAAACAAATCTCAGAACAGTCTGAAATACCTTTGCCTGGATACCTCTGGCTCCTTCAGCAGCTAGAGCTCAGTATACTAATGCCCTATCTTAGTAGAGATTTCATAGCTATTTAGAGATATTTTCCATTTTAAGAAAACCCGACAACATTTCTGCCAGGTTTGTTAGGAGGCCACATGATACTTATTCAAAAAAATCCTAGAGATTCTTAGCTCTTGGGATGCAGGCTCAGCCCGCTGGAGCATGAGCTCTGTGTGTACCGAGAACTGGGGTGATGTTTTACTTTTCACAGTATGGGCTACACAGCAGCTGTTCAACAAGAGTAAATATTGTCACAACACTGAACCTCTGGCTAGAGGACATATTCACAGTGAACATAACTGTAACATATATGAAAGGCTTCTGGGACTTGAAATCAAATGTTTGGGAATGGTGCCCTTGGAGGCAACCTCCCATTTTAGATGTTTAAAGGACCCTATATGTGGCATTCCTTTCTTTAAACTATAGGTAATTAAGGCAGCTGAAAAGTAAATTGCCTTCTAGACACTGAAGGCAAATCTCCTTTGTCCATTTACCTGGAAACCAGAATGATTTTGACATACAGGAGAGCTGCAGTTGTGAAAGCACCATCATCATAGAGGATGATGTAATTAAAAAATGGTCAGTGTGCAAAGAAAAGAACTGCTTGCATTTCTTTATTTCTGTCTCATAATTGTCAAAAACCAGAATTAGGTCAAGTTCATAGTTTCTGTAATTGGCTTTTGAATCAAAGAATAGGGAGACAATCTAAAAAATATCTTAGGTTGGAGATGACAGAAATATGATTGATTTGAAGTGGAAAAAGAAATTCTGTTAATGTTAATTAAAGTAAAATTATTCCCTGAATTGTTTGATATTGTCACCTAGCAGATATGTATTACTTTTCTGCAATGTTATTATTGGCTTGCACTTTGTGAGTATTCTATGTAAAAATATATATGTATATAAAATATATATTGCATAGGACAGACTTAGGAGTTTTGTTTAGAGCAGTTAACATCTGAAGTGTCTAATGCATTAACTTTTGTAAGGTACTGAATACTTAATATGTGGGAAACCCTTTTGCGTGGTCCTTAGGCTTACAATGTGCACTGAATCGTTTCATGTAAGAATCCAAAGTGGACACCATTAACAGGTCTTTGAAATATGCATGTACTTTATATTTTCTATATTTGTAACTTTGCATGTTCTTGTTTTGTTATATAAAAAAATTGTAAATGTTTAATATCTGACTGAAATTAAACGAGCGAAGATGAGCACCACCTCCCGTGTCTGCAGTTGTATTTCCTGGTGCTTGCCCTGTGTTGGGGACTGTTTTGGGGGTTAATCTGAGCCAAGTGGCGCTTTCTGTCCTCCCTTCTCAAGTGATGGCCGATGGTTCACGCACTTCCCCCTGTTCCTGCCCTTGTCCTCACTTCCCAGTCACCCACTAGTTCATCTCTGCGGCTTTTGCATTTTCTCCACAAGCATCTAAGTGGGCTTAGCACTGGTAAACTGCAAA
Task1_train_27695
Here is a mutation in PRNP (prion protein (Kanno blood group)) on Chromosome 20. Determine whether it’s benign or pathogenic. If the latter, what disease does it cause?
Pathogenic; Huntington disease-like 1
GGAGCAGGGAGGCTGGTTGGGAGGCTGTTGAAGAAATCAGGTGAGAAGTGATGGAAGCACCGAATAAGATGGTCATGTTGGAAAAATTGAGAAGCTGAGGTGCTTAGCATTGATTTTCAAGGTAGAGCTACTGAGATTTGCTGATAGATCCAATGTATGCTGGGAGAGAAAATTCAGTCACTCTAGAGCATTGGCTGGATTTGTCACCCATTGCAGCGAATGGAGAAGGTGCTGACATAAAAGCCCTTTAGACTGAAAGCTACTGACTGAGGGGATGGTGCCCTAGTTTGATTTCCTGGGGTGTATGAGTAGCAGGGAGGCCAAGAGCTGGGCCTCACGAGATTGTGGGGACTACATCAGGGAAGCAGGCCTGCAAAGAACCTGCACCACAGACCCCCACCTAAAAGAGCCTCCAAAAACCCTAACTGGCATGACCTGAGTACTTTAACTCTGCTTGTAACTTTCAAATATATTTTGATTTGCTTATGACCACCAAGGCAAAACTTCCCATTTCAATAATGTTAGTAGAAACATAAACAGGATGTTAATTTATTTATTTGGTAATTCTTTTTATGAATATTATCCAGTTTAATCATTAGCTCTGAAGGAGATGAAAAATAATTTTCTAATTTTTAGAAAAATTTGCAGCTAATTGGGTGATAAAGGTAAGGGGTTTCTGAGTTCACAAAAATGTTCTAAAATTGGCAACAGTTTCGGTTGCACGTTTCATTAAATGTACTAAAAACCATTGAACTGTACATGGTATATGGTGAATTATATGGTATGTGAATTATATCTCAACAAGCTGGGTATTGTTTTTTTAAAAAATAAAAATAAAAAAGGAGAAAGAGAGAGAGAAAAACAATTGCAGATCATCCCAGCACTGAGGACAAGACTAACTTCAGTGTTCCAGTATATGCCATTATAGGTTTTACGGCACACAGTGATGATTTGGAGCCTATGATTTGACCTAGGGTACAGCAGGTACTGTTTAGCAATCATTTTACTATTGTCATAGGTCTCTGCTCTTGGAGCTAAGTGCCCAGGGTAAATGAGATCTTTAATTTGAAAAGAGATTTTTGATTTGATGAATGTACATTCTCCAAAGGGTCATAAATTGTCATTCTGGATGTTTGATCTGTTTGTTGTTTTGGTACAAAAATTAGAAGAAAATAATTCACTCATAAAATGTTAAATAATGAACTAAAAGTCATTCATCAAGTCCATAACTTAGGGTCACATTTGTCCTTGGAGCAGGAGAAAGAGTTGTGTTCACCCTTTTCTTACTTTTGCTTTTGTCCTAAGTGCTTCAGAGAAGTACAGGGTGGCAACAGTGTTTCTACTGAGCAGCTGATACCATTGCTATGCACTCATTCATTATGCAGGAAACATTTAGTAATTTCAACATAAATATGGGACTCTGACGTTCTCCTCTTCATTTTGCAGAGCAGTCATTATGGCGAACCTTGGCTGCTGGATGCTGGTTCTCTTTGTGGCCACATGGAGTGACCTGGGCCTCTGCAAGAAGCGCCCGAAGCCTGGAGGATGGAACACTGGGGGCAGCCGATACCCGGGGCAGGGCAGCCCTGGAGGCAACCGCTACCCACCTCAGGGCGGTGGTGGCTGGGGGCAGCCTCATGGTGGTGGCTGGGGGCAGCCTCATGGTGGTGGCTGGGGGCAGCCCCATGGTGGTGGCTGGGGACAGCCTCATGGTGGTGGCTGGGGTCAAGGAGGTGGCACCCACAGTCAGTGGAACAAGCCGAGTAAGCCAAAAACCAACATGAAGCACATGGCTGGTGCTGCAGCAGCTGGGGCAGTGGTGGGGGGCCTTGGCGGCTACATGCTGGGAAGTGCCATGAGCAGGCCCATCATACATTTCGGCAGTGACTATGAGGACCGTTACTATCGTGAAAACATGCACCGTTACCCCAACCAAGTGTACTACAGGCCCATGGATGAGTACAGCAACCAGAACAACTTTGTGCACGACTGCGTCAATATCACAATCAAGCAGCACACGGTCACCACAACCACCAAGGGGGAGAACTTCACCGAGACCGACGTTAAGATGATGGAGCGCGTGGTTGAGCAGATGTGTATCACCCAGTACGAGAGGGAATCTCAGGCCTATTACCAGAGAGGATCGAGCATGGTCCTCTTCTCCTCTCCACCTGTGATCCTCCTGATCTCTTTCCTCATCTTCCTGATAGTGGGATGAGGAAGGTCTTCCTGTTTTCACCATCTTTCTAATCTTTTTCCAGCTTGAGGGAGGCGGTATCCACCTGCAGCCCTTTTAGTGGTGGTGTCTCACTCTTTCTTCTCTCTTTGTCCCGGATAGGCTAATCAATACCCTTGGCACTGATGGGCACTGGAAAACATAGAGTAGACCTGAGATGCTGGTCAAGCCCCCTTTGATTGAGTTCATCATGAGCCGTTGCTAATGCCAGGCCAGTAAAAGTATAACAGCAAATAACCATTGGTTAATCTGGACTTATTTTTGGACTTAGTGCAACAGGTTGAGGCTAAAACAAATCTCAGAACAGTCTGAAATACCTTTGCCTGGATACCTCTGGCTCCTTCAGCAGCTAGAGCTCAGTATACTAATGCCCTATCTTAGTAGAGATTTCATAGCTATTTAGAGATATTTTCCATTTTAAGAAAACCCGACAACATTTCTGCCAGGTTTGTTAGGAGGCCACATGATACTTATTCAAAAAAATCCTAGAGATTCTTAGCTCTTGGGATGCAGGCTCAGCCCGCTGGAGCATGAGCTCTGTGTGTACCGAGAACTGGGGTGATGTTTTACTTTTCACAGTATGGGCTACACAGCAGCTGTTCAACAAGAGTAAATATTGTCACAACACTGAACCTCTGGCTAGAGGACATATTCACAGTGAACATAACTGTAACATATATGAAAGGCTTCTGGGACTTGAAATCAAATGTTTGGGAATGGTGCCCTTGGAGGCAACCTCCCATTTTAGATGTTTAAAGGACCCTATATGTGGCATTCCTTTCTTTAAACTATAGGTAATTAAGGCAGCTGAAAAGTAAATTGCCTTCTAGACACTGAAGGCAAATCTCCTTTGTCCATTTACCTGGAAACCAGAATGATTTTGACATACAGGAGAGCTGCAGTTGTGAAAGCACCATCATCATAGAGGATGATGTAATTAAAAAATGGTCAGTGTGCAAAGAAAAGAACTGCTTGCATTTCTTTATTTCTGTCTCATAATTGTCAAAAACCAGAATTAGGTCAAGTTCATAGTTTCTGTAATTGGCTTTTGAATCAAAGAATAGGGAGACAATCTAAAAAATATCTTAGGTTGGAGATGACAGAAATATGATTGATTTGAAGTGGAAAAAGAAATTCTGTTAATGTTAATTAAAGTAAAATTATTCCCTGAATTGTTTGATATTGTCACCTAGCAGATATGTATTACTTTTCTGCAATGTTATTATTGGCTTGCACTTTGTGAGTATTCTATGTAAAAATATATATGTATATAAAATATATATTGCATAGGACAGACTTAGGAGTTTTGTTTAGAGCAGTTAACATCTGAAGTGTCTAATGCATTAACTTTTGTAAGGTACTGAATACTTAATATGTGGGAAACCCTTTTGCGTGGTCCTTAGGCTTACAATGTGCACTGAATCGTTTCATGTAAGAATCCAAAGTGGACACCATTAACAGGTCTTTGAAATATGCATGTACTTTATATTTTCTATATTTGTAACTTTGCATGTTCTTGTTTTGTTATATAAAAAAATTGTAAATGTTTAATATCTGACTGAAATTAAACGAGCGAAGATGAGCACCACCTCCCGTGTCTGCAGTTGTATTTCCTGGTGCTTGCCCTGTGTTGGGGACTGTTTTGGGGGTTAATCTGAGCCAAGTGGCGCTTTCTGTCCTCCCTTCTCAAGTGATGGCCGATGGTTCACGCACTTCCCCCTGTTCCTGCCCTTGTCCTCACTTCCCAGTCACCCACTAGTTCATCTCTGCGGCTTTTGCATTTTCTCCACAAGCATCTAAGTGGGCTTAGCACTGGTAAACTGCAAAGGCACTATTGCAGCAGGAGGAACAGTCTGGGAG
GGAGCAGGGAGGCTGGTTGGGAGGCTGTTGAAGAAATCAGGTGAGAAGTGATGGAAGCACCGAATAAGATGGTCATGTTGGAAAAATTGAGAAGCTGAGGTGCTTAGCATTGATTTTCAAGGTAGAGCTACTGAGATTTGCTGATAGATCCAATGTATGCTGGGAGAGAAAATTCAGTCACTCTAGAGCATTGGCTGGATTTGTCACCCATTGCAGCGAATGGAGAAGGTGCTGACATAAAAGCCCTTTAGACTGAAAGCTACTGACTGAGGGGATGGTGCCCTAGTTTGATTTCCTGGGGTGTATGAGTAGCAGGGAGGCCAAGAGCTGGGCCTCACGAGATTGTGGGGACTACATCAGGGAAGCAGGCCTGCAAAGAACCTGCACCACAGACCCCCACCTAAAAGAGCCTCCAAAAACCCTAACTGGCATGACCTGAGTACTTTAACTCTGCTTGTAACTTTCAAATATATTTTGATTTGCTTATGACCACCAAGGCAAAACTTCCCATTTCAATAATGTTAGTAGAAACATAAACAGGATGTTAATTTATTTATTTGGTAATTCTTTTTATGAATATTATCCAGTTTAATCATTAGCTCTGAAGGAGATGAAAAATAATTTTCTAATTTTTAGAAAAATTTGCAGCTAATTGGGTGATAAAGGTAAGGGGTTTCTGAGTTCACAAAAATGTTCTAAAATTGGCAACAGTTTCGGTTGCACGTTTCATTAAATGTACTAAAAACCATTGAACTGTACATGGTATATGGTGAATTATATGGTATGTGAATTATATCTCAACAAGCTGGGTATTGTTTTTTTAAAAAATAAAAATAAAAAAGGAGAAAGAGAGAGAGAAAAACAATTGCAGATCATCCCAGCACTGAGGACAAGACTAACTTCAGTGTTCCAGTATATGCCATTATAGGTTTTACGGCACACAGTGATGATTTGGAGCCTATGATTTGACCTAGGGTACAGCAGGTACTGTTTAGCAATCATTTTACTATTGTCATAGGTCTCTGCTCTTGGAGCTAAGTGCCCAGGGTAAATGAGATCTTTAATTTGAAAAGAGATTTTTGATTTGATGAATGTACATTCTCCAAAGGGTCATAAATTGTCATTCTGGATGTTTGATCTGTTTGTTGTTTTGGTACAAAAATTAGAAGAAAATAATTCACTCATAAAATGTTAAATAATGAACTAAAAGTCATTCATCAAGTCCATAACTTAGGGTCACATTTGTCCTTGGAGCAGGAGAAAGAGTTGTGTTCACCCTTTTCTTACTTTTGCTTTTGTCCTAAGTGCTTCAGAGAAGTACAGGGTGGCAACAGTGTTTCTACTGAGCAGCTGATACCATTGCTATGCACTCATTCATTATGCAGGAAACATTTAGTAATTTCAACATAAATATGGGACTCTGACGTTCTCCTCTTCATTTTGCAGAGCAGTCATTATGGCGAACCTTGGCTGCTGGATGCTGGTTCTCTTTGTGGCCACATGGAGTGACCTGGGCCTCTGCAAGAAGCGCCCGAAGCCTGGAGGATGGAACACTGGGGGCAGCCGATACCCGGGGCAGGGCAGCCCTGGAGGCAACCGCTACCCACCTCAGGGCGGTGGTGGCTGGGGGCAGCCTCATGGTGGTGGCTGGGGGCAGCCTCATGGTGGTGGCTGGGGGCAGCCCCATGGTGGTGGCTGGGGACAGCCTCATGGTGGTGGCTGGGGTCAAGGAGGTGGCACCCACAGTCAGTGGAACAAGCCGAGTAAGCCAAAAACCAACATGAAGCACATGGCTGGTGCTGCAGCAGCTGGGGCAGTGGTGGGGGGCCTTGGCGGCTACATGCTGGGAAGTGCCATGAGCAGGCCCATCATACATTTCGGCAGTGACTATGAGGACCGTTACTATCGTGAAAACATGCACCGTTACCCCAACCAAGTGTACTACAGGCCCATGGATGAGTACAGCAACCAGAACAACTTTGTGCACGACTGCGTCAATATCACAATCAAGCAGCACACGGTCACCACAACCACCAAGGGGGAGAACTCCACCGAGACCGACGTTAAGATGATGGAGCGCGTGGTTGAGCAGATGTGTATCACCCAGTACGAGAGGGAATCTCAGGCCTATTACCAGAGAGGATCGAGCATGGTCCTCTTCTCCTCTCCACCTGTGATCCTCCTGATCTCTTTCCTCATCTTCCTGATAGTGGGATGAGGAAGGTCTTCCTGTTTTCACCATCTTTCTAATCTTTTTCCAGCTTGAGGGAGGCGGTATCCACCTGCAGCCCTTTTAGTGGTGGTGTCTCACTCTTTCTTCTCTCTTTGTCCCGGATAGGCTAATCAATACCCTTGGCACTGATGGGCACTGGAAAACATAGAGTAGACCTGAGATGCTGGTCAAGCCCCCTTTGATTGAGTTCATCATGAGCCGTTGCTAATGCCAGGCCAGTAAAAGTATAACAGCAAATAACCATTGGTTAATCTGGACTTATTTTTGGACTTAGTGCAACAGGTTGAGGCTAAAACAAATCTCAGAACAGTCTGAAATACCTTTGCCTGGATACCTCTGGCTCCTTCAGCAGCTAGAGCTCAGTATACTAATGCCCTATCTTAGTAGAGATTTCATAGCTATTTAGAGATATTTTCCATTTTAAGAAAACCCGACAACATTTCTGCCAGGTTTGTTAGGAGGCCACATGATACTTATTCAAAAAAATCCTAGAGATTCTTAGCTCTTGGGATGCAGGCTCAGCCCGCTGGAGCATGAGCTCTGTGTGTACCGAGAACTGGGGTGATGTTTTACTTTTCACAGTATGGGCTACACAGCAGCTGTTCAACAAGAGTAAATATTGTCACAACACTGAACCTCTGGCTAGAGGACATATTCACAGTGAACATAACTGTAACATATATGAAAGGCTTCTGGGACTTGAAATCAAATGTTTGGGAATGGTGCCCTTGGAGGCAACCTCCCATTTTAGATGTTTAAAGGACCCTATATGTGGCATTCCTTTCTTTAAACTATAGGTAATTAAGGCAGCTGAAAAGTAAATTGCCTTCTAGACACTGAAGGCAAATCTCCTTTGTCCATTTACCTGGAAACCAGAATGATTTTGACATACAGGAGAGCTGCAGTTGTGAAAGCACCATCATCATAGAGGATGATGTAATTAAAAAATGGTCAGTGTGCAAAGAAAAGAACTGCTTGCATTTCTTTATTTCTGTCTCATAATTGTCAAAAACCAGAATTAGGTCAAGTTCATAGTTTCTGTAATTGGCTTTTGAATCAAAGAATAGGGAGACAATCTAAAAAATATCTTAGGTTGGAGATGACAGAAATATGATTGATTTGAAGTGGAAAAAGAAATTCTGTTAATGTTAATTAAAGTAAAATTATTCCCTGAATTGTTTGATATTGTCACCTAGCAGATATGTATTACTTTTCTGCAATGTTATTATTGGCTTGCACTTTGTGAGTATTCTATGTAAAAATATATATGTATATAAAATATATATTGCATAGGACAGACTTAGGAGTTTTGTTTAGAGCAGTTAACATCTGAAGTGTCTAATGCATTAACTTTTGTAAGGTACTGAATACTTAATATGTGGGAAACCCTTTTGCGTGGTCCTTAGGCTTACAATGTGCACTGAATCGTTTCATGTAAGAATCCAAAGTGGACACCATTAACAGGTCTTTGAAATATGCATGTACTTTATATTTTCTATATTTGTAACTTTGCATGTTCTTGTTTTGTTATATAAAAAAATTGTAAATGTTTAATATCTGACTGAAATTAAACGAGCGAAGATGAGCACCACCTCCCGTGTCTGCAGTTGTATTTCCTGGTGCTTGCCCTGTGTTGGGGACTGTTTTGGGGGTTAATCTGAGCCAAGTGGCGCTTTCTGTCCTCCCTTCTCAAGTGATGGCCGATGGTTCACGCACTTCCCCCTGTTCCTGCCCTTGTCCTCACTTCCCAGTCACCCACTAGTTCATCTCTGCGGCTTTTGCATTTTCTCCACAAGCATCTAAGTGGGCTTAGCACTGGTAAACTGCAAAGGCACTATTGCAGCAGGAGGAACAGTCTGGGAG
Task1_train_27696
Here’s a variant in PRNP (prion protein (Kanno blood group)) located on Chromosome 20. What is the predicted biological effect — harmless or disease-causing?
Pathogenic; Inherited Creutzfeldt-Jakob disease
AGGGAGGCTGGTTGGGAGGCTGTTGAAGAAATCAGGTGAGAAGTGATGGAAGCACCGAATAAGATGGTCATGTTGGAAAAATTGAGAAGCTGAGGTGCTTAGCATTGATTTTCAAGGTAGAGCTACTGAGATTTGCTGATAGATCCAATGTATGCTGGGAGAGAAAATTCAGTCACTCTAGAGCATTGGCTGGATTTGTCACCCATTGCAGCGAATGGAGAAGGTGCTGACATAAAAGCCCTTTAGACTGAAAGCTACTGACTGAGGGGATGGTGCCCTAGTTTGATTTCCTGGGGTGTATGAGTAGCAGGGAGGCCAAGAGCTGGGCCTCACGAGATTGTGGGGACTACATCAGGGAAGCAGGCCTGCAAAGAACCTGCACCACAGACCCCCACCTAAAAGAGCCTCCAAAAACCCTAACTGGCATGACCTGAGTACTTTAACTCTGCTTGTAACTTTCAAATATATTTTGATTTGCTTATGACCACCAAGGCAAAACTTCCCATTTCAATAATGTTAGTAGAAACATAAACAGGATGTTAATTTATTTATTTGGTAATTCTTTTTATGAATATTATCCAGTTTAATCATTAGCTCTGAAGGAGATGAAAAATAATTTTCTAATTTTTAGAAAAATTTGCAGCTAATTGGGTGATAAAGGTAAGGGGTTTCTGAGTTCACAAAAATGTTCTAAAATTGGCAACAGTTTCGGTTGCACGTTTCATTAAATGTACTAAAAACCATTGAACTGTACATGGTATATGGTGAATTATATGGTATGTGAATTATATCTCAACAAGCTGGGTATTGTTTTTTTAAAAAATAAAAATAAAAAAGGAGAAAGAGAGAGAGAAAAACAATTGCAGATCATCCCAGCACTGAGGACAAGACTAACTTCAGTGTTCCAGTATATGCCATTATAGGTTTTACGGCACACAGTGATGATTTGGAGCCTATGATTTGACCTAGGGTACAGCAGGTACTGTTTAGCAATCATTTTACTATTGTCATAGGTCTCTGCTCTTGGAGCTAAGTGCCCAGGGTAAATGAGATCTTTAATTTGAAAAGAGATTTTTGATTTGATGAATGTACATTCTCCAAAGGGTCATAAATTGTCATTCTGGATGTTTGATCTGTTTGTTGTTTTGGTACAAAAATTAGAAGAAAATAATTCACTCATAAAATGTTAAATAATGAACTAAAAGTCATTCATCAAGTCCATAACTTAGGGTCACATTTGTCCTTGGAGCAGGAGAAAGAGTTGTGTTCACCCTTTTCTTACTTTTGCTTTTGTCCTAAGTGCTTCAGAGAAGTACAGGGTGGCAACAGTGTTTCTACTGAGCAGCTGATACCATTGCTATGCACTCATTCATTATGCAGGAAACATTTAGTAATTTCAACATAAATATGGGACTCTGACGTTCTCCTCTTCATTTTGCAGAGCAGTCATTATGGCGAACCTTGGCTGCTGGATGCTGGTTCTCTTTGTGGCCACATGGAGTGACCTGGGCCTCTGCAAGAAGCGCCCGAAGCCTGGAGGATGGAACACTGGGGGCAGCCGATACCCGGGGCAGGGCAGCCCTGGAGGCAACCGCTACCCACCTCAGGGCGGTGGTGGCTGGGGGCAGCCTCATGGTGGTGGCTGGGGGCAGCCTCATGGTGGTGGCTGGGGGCAGCCCCATGGTGGTGGCTGGGGACAGCCTCATGGTGGTGGCTGGGGTCAAGGAGGTGGCACCCACAGTCAGTGGAACAAGCCGAGTAAGCCAAAAACCAACATGAAGCACATGGCTGGTGCTGCAGCAGCTGGGGCAGTGGTGGGGGGCCTTGGCGGCTACATGCTGGGAAGTGCCATGAGCAGGCCCATCATACATTTCGGCAGTGACTATGAGGACCGTTACTATCGTGAAAACATGCACCGTTACCCCAACCAAGTGTACTACAGGCCCATGGATGAGTACAGCAACCAGAACAACTTTGTGCACGACTGCGTCAATATCACAATCAAGCAGCACACGGTCACCACAACCACCAAGGGGGAGAACTTCACCGAGACCGACGTTAAGATGATGGAGCGCGTGGTTGAGCAGATGTGTATCACCCAGTACGAGAGGGAATCTCAGGCCTATTACCAGAGAGGATCGAGCATGGTCCTCTTCTCCTCTCCACCTGTGATCCTCCTGATCTCTTTCCTCATCTTCCTGATAGTGGGATGAGGAAGGTCTTCCTGTTTTCACCATCTTTCTAATCTTTTTCCAGCTTGAGGGAGGCGGTATCCACCTGCAGCCCTTTTAGTGGTGGTGTCTCACTCTTTCTTCTCTCTTTGTCCCGGATAGGCTAATCAATACCCTTGGCACTGATGGGCACTGGAAAACATAGAGTAGACCTGAGATGCTGGTCAAGCCCCCTTTGATTGAGTTCATCATGAGCCGTTGCTAATGCCAGGCCAGTAAAAGTATAACAGCAAATAACCATTGGTTAATCTGGACTTATTTTTGGACTTAGTGCAACAGGTTGAGGCTAAAACAAATCTCAGAACAGTCTGAAATACCTTTGCCTGGATACCTCTGGCTCCTTCAGCAGCTAGAGCTCAGTATACTAATGCCCTATCTTAGTAGAGATTTCATAGCTATTTAGAGATATTTTCCATTTTAAGAAAACCCGACAACATTTCTGCCAGGTTTGTTAGGAGGCCACATGATACTTATTCAAAAAAATCCTAGAGATTCTTAGCTCTTGGGATGCAGGCTCAGCCCGCTGGAGCATGAGCTCTGTGTGTACCGAGAACTGGGGTGATGTTTTACTTTTCACAGTATGGGCTACACAGCAGCTGTTCAACAAGAGTAAATATTGTCACAACACTGAACCTCTGGCTAGAGGACATATTCACAGTGAACATAACTGTAACATATATGAAAGGCTTCTGGGACTTGAAATCAAATGTTTGGGAATGGTGCCCTTGGAGGCAACCTCCCATTTTAGATGTTTAAAGGACCCTATATGTGGCATTCCTTTCTTTAAACTATAGGTAATTAAGGCAGCTGAAAAGTAAATTGCCTTCTAGACACTGAAGGCAAATCTCCTTTGTCCATTTACCTGGAAACCAGAATGATTTTGACATACAGGAGAGCTGCAGTTGTGAAAGCACCATCATCATAGAGGATGATGTAATTAAAAAATGGTCAGTGTGCAAAGAAAAGAACTGCTTGCATTTCTTTATTTCTGTCTCATAATTGTCAAAAACCAGAATTAGGTCAAGTTCATAGTTTCTGTAATTGGCTTTTGAATCAAAGAATAGGGAGACAATCTAAAAAATATCTTAGGTTGGAGATGACAGAAATATGATTGATTTGAAGTGGAAAAAGAAATTCTGTTAATGTTAATTAAAGTAAAATTATTCCCTGAATTGTTTGATATTGTCACCTAGCAGATATGTATTACTTTTCTGCAATGTTATTATTGGCTTGCACTTTGTGAGTATTCTATGTAAAAATATATATGTATATAAAATATATATTGCATAGGACAGACTTAGGAGTTTTGTTTAGAGCAGTTAACATCTGAAGTGTCTAATGCATTAACTTTTGTAAGGTACTGAATACTTAATATGTGGGAAACCCTTTTGCGTGGTCCTTAGGCTTACAATGTGCACTGAATCGTTTCATGTAAGAATCCAAAGTGGACACCATTAACAGGTCTTTGAAATATGCATGTACTTTATATTTTCTATATTTGTAACTTTGCATGTTCTTGTTTTGTTATATAAAAAAATTGTAAATGTTTAATATCTGACTGAAATTAAACGAGCGAAGATGAGCACCACCTCCCGTGTCTGCAGTTGTATTTCCTGGTGCTTGCCCTGTGTTGGGGACTGTTTTGGGGGTTAATCTGAGCCAAGTGGCGCTTTCTGTCCTCCCTTCTCAAGTGATGGCCGATGGTTCACGCACTTCCCCCTGTTCCTGCCCTTGTCCTCACTTCCCAGTCACCCACTAGTTCATCTCTGCGGCTTTTGCATTTTCTCCACAAGCATCTAAGTGGGCTTAGCACTGGTAAACTGCAAAGGCACTATTGCAGCAGGAGGAACAGTCTGGGAGCTTTT
AGGGAGGCTGGTTGGGAGGCTGTTGAAGAAATCAGGTGAGAAGTGATGGAAGCACCGAATAAGATGGTCATGTTGGAAAAATTGAGAAGCTGAGGTGCTTAGCATTGATTTTCAAGGTAGAGCTACTGAGATTTGCTGATAGATCCAATGTATGCTGGGAGAGAAAATTCAGTCACTCTAGAGCATTGGCTGGATTTGTCACCCATTGCAGCGAATGGAGAAGGTGCTGACATAAAAGCCCTTTAGACTGAAAGCTACTGACTGAGGGGATGGTGCCCTAGTTTGATTTCCTGGGGTGTATGAGTAGCAGGGAGGCCAAGAGCTGGGCCTCACGAGATTGTGGGGACTACATCAGGGAAGCAGGCCTGCAAAGAACCTGCACCACAGACCCCCACCTAAAAGAGCCTCCAAAAACCCTAACTGGCATGACCTGAGTACTTTAACTCTGCTTGTAACTTTCAAATATATTTTGATTTGCTTATGACCACCAAGGCAAAACTTCCCATTTCAATAATGTTAGTAGAAACATAAACAGGATGTTAATTTATTTATTTGGTAATTCTTTTTATGAATATTATCCAGTTTAATCATTAGCTCTGAAGGAGATGAAAAATAATTTTCTAATTTTTAGAAAAATTTGCAGCTAATTGGGTGATAAAGGTAAGGGGTTTCTGAGTTCACAAAAATGTTCTAAAATTGGCAACAGTTTCGGTTGCACGTTTCATTAAATGTACTAAAAACCATTGAACTGTACATGGTATATGGTGAATTATATGGTATGTGAATTATATCTCAACAAGCTGGGTATTGTTTTTTTAAAAAATAAAAATAAAAAAGGAGAAAGAGAGAGAGAAAAACAATTGCAGATCATCCCAGCACTGAGGACAAGACTAACTTCAGTGTTCCAGTATATGCCATTATAGGTTTTACGGCACACAGTGATGATTTGGAGCCTATGATTTGACCTAGGGTACAGCAGGTACTGTTTAGCAATCATTTTACTATTGTCATAGGTCTCTGCTCTTGGAGCTAAGTGCCCAGGGTAAATGAGATCTTTAATTTGAAAAGAGATTTTTGATTTGATGAATGTACATTCTCCAAAGGGTCATAAATTGTCATTCTGGATGTTTGATCTGTTTGTTGTTTTGGTACAAAAATTAGAAGAAAATAATTCACTCATAAAATGTTAAATAATGAACTAAAAGTCATTCATCAAGTCCATAACTTAGGGTCACATTTGTCCTTGGAGCAGGAGAAAGAGTTGTGTTCACCCTTTTCTTACTTTTGCTTTTGTCCTAAGTGCTTCAGAGAAGTACAGGGTGGCAACAGTGTTTCTACTGAGCAGCTGATACCATTGCTATGCACTCATTCATTATGCAGGAAACATTTAGTAATTTCAACATAAATATGGGACTCTGACGTTCTCCTCTTCATTTTGCAGAGCAGTCATTATGGCGAACCTTGGCTGCTGGATGCTGGTTCTCTTTGTGGCCACATGGAGTGACCTGGGCCTCTGCAAGAAGCGCCCGAAGCCTGGAGGATGGAACACTGGGGGCAGCCGATACCCGGGGCAGGGCAGCCCTGGAGGCAACCGCTACCCACCTCAGGGCGGTGGTGGCTGGGGGCAGCCTCATGGTGGTGGCTGGGGGCAGCCTCATGGTGGTGGCTGGGGGCAGCCCCATGGTGGTGGCTGGGGACAGCCTCATGGTGGTGGCTGGGGTCAAGGAGGTGGCACCCACAGTCAGTGGAACAAGCCGAGTAAGCCAAAAACCAACATGAAGCACATGGCTGGTGCTGCAGCAGCTGGGGCAGTGGTGGGGGGCCTTGGCGGCTACATGCTGGGAAGTGCCATGAGCAGGCCCATCATACATTTCGGCAGTGACTATGAGGACCGTTACTATCGTGAAAACATGCACCGTTACCCCAACCAAGTGTACTACAGGCCCATGGATGAGTACAGCAACCAGAACAACTTTGTGCACGACTGCGTCAATATCACAATCAAGCAGCACACGGTCACCACAACCACCAAGGGGGAGAACTTCACCAAGACCGACGTTAAGATGATGGAGCGCGTGGTTGAGCAGATGTGTATCACCCAGTACGAGAGGGAATCTCAGGCCTATTACCAGAGAGGATCGAGCATGGTCCTCTTCTCCTCTCCACCTGTGATCCTCCTGATCTCTTTCCTCATCTTCCTGATAGTGGGATGAGGAAGGTCTTCCTGTTTTCACCATCTTTCTAATCTTTTTCCAGCTTGAGGGAGGCGGTATCCACCTGCAGCCCTTTTAGTGGTGGTGTCTCACTCTTTCTTCTCTCTTTGTCCCGGATAGGCTAATCAATACCCTTGGCACTGATGGGCACTGGAAAACATAGAGTAGACCTGAGATGCTGGTCAAGCCCCCTTTGATTGAGTTCATCATGAGCCGTTGCTAATGCCAGGCCAGTAAAAGTATAACAGCAAATAACCATTGGTTAATCTGGACTTATTTTTGGACTTAGTGCAACAGGTTGAGGCTAAAACAAATCTCAGAACAGTCTGAAATACCTTTGCCTGGATACCTCTGGCTCCTTCAGCAGCTAGAGCTCAGTATACTAATGCCCTATCTTAGTAGAGATTTCATAGCTATTTAGAGATATTTTCCATTTTAAGAAAACCCGACAACATTTCTGCCAGGTTTGTTAGGAGGCCACATGATACTTATTCAAAAAAATCCTAGAGATTCTTAGCTCTTGGGATGCAGGCTCAGCCCGCTGGAGCATGAGCTCTGTGTGTACCGAGAACTGGGGTGATGTTTTACTTTTCACAGTATGGGCTACACAGCAGCTGTTCAACAAGAGTAAATATTGTCACAACACTGAACCTCTGGCTAGAGGACATATTCACAGTGAACATAACTGTAACATATATGAAAGGCTTCTGGGACTTGAAATCAAATGTTTGGGAATGGTGCCCTTGGAGGCAACCTCCCATTTTAGATGTTTAAAGGACCCTATATGTGGCATTCCTTTCTTTAAACTATAGGTAATTAAGGCAGCTGAAAAGTAAATTGCCTTCTAGACACTGAAGGCAAATCTCCTTTGTCCATTTACCTGGAAACCAGAATGATTTTGACATACAGGAGAGCTGCAGTTGTGAAAGCACCATCATCATAGAGGATGATGTAATTAAAAAATGGTCAGTGTGCAAAGAAAAGAACTGCTTGCATTTCTTTATTTCTGTCTCATAATTGTCAAAAACCAGAATTAGGTCAAGTTCATAGTTTCTGTAATTGGCTTTTGAATCAAAGAATAGGGAGACAATCTAAAAAATATCTTAGGTTGGAGATGACAGAAATATGATTGATTTGAAGTGGAAAAAGAAATTCTGTTAATGTTAATTAAAGTAAAATTATTCCCTGAATTGTTTGATATTGTCACCTAGCAGATATGTATTACTTTTCTGCAATGTTATTATTGGCTTGCACTTTGTGAGTATTCTATGTAAAAATATATATGTATATAAAATATATATTGCATAGGACAGACTTAGGAGTTTTGTTTAGAGCAGTTAACATCTGAAGTGTCTAATGCATTAACTTTTGTAAGGTACTGAATACTTAATATGTGGGAAACCCTTTTGCGTGGTCCTTAGGCTTACAATGTGCACTGAATCGTTTCATGTAAGAATCCAAAGTGGACACCATTAACAGGTCTTTGAAATATGCATGTACTTTATATTTTCTATATTTGTAACTTTGCATGTTCTTGTTTTGTTATATAAAAAAATTGTAAATGTTTAATATCTGACTGAAATTAAACGAGCGAAGATGAGCACCACCTCCCGTGTCTGCAGTTGTATTTCCTGGTGCTTGCCCTGTGTTGGGGACTGTTTTGGGGGTTAATCTGAGCCAAGTGGCGCTTTCTGTCCTCCCTTCTCAAGTGATGGCCGATGGTTCACGCACTTCCCCCTGTTCCTGCCCTTGTCCTCACTTCCCAGTCACCCACTAGTTCATCTCTGCGGCTTTTGCATTTTCTCCACAAGCATCTAAGTGGGCTTAGCACTGGTAAACTGCAAAGGCACTATTGCAGCAGGAGGAACAGTCTGGGAGCTTTT
Task1_train_27697
A variant was discovered in gene PRNP (prion protein (Kanno blood group)), Chromosome 20. Please indicate if this mutation results in a known disease or if it's non-harmful.
Pathogenic; Huntington disease-like 1
AGGGAGGCTGGTTGGGAGGCTGTTGAAGAAATCAGGTGAGAAGTGATGGAAGCACCGAATAAGATGGTCATGTTGGAAAAATTGAGAAGCTGAGGTGCTTAGCATTGATTTTCAAGGTAGAGCTACTGAGATTTGCTGATAGATCCAATGTATGCTGGGAGAGAAAATTCAGTCACTCTAGAGCATTGGCTGGATTTGTCACCCATTGCAGCGAATGGAGAAGGTGCTGACATAAAAGCCCTTTAGACTGAAAGCTACTGACTGAGGGGATGGTGCCCTAGTTTGATTTCCTGGGGTGTATGAGTAGCAGGGAGGCCAAGAGCTGGGCCTCACGAGATTGTGGGGACTACATCAGGGAAGCAGGCCTGCAAAGAACCTGCACCACAGACCCCCACCTAAAAGAGCCTCCAAAAACCCTAACTGGCATGACCTGAGTACTTTAACTCTGCTTGTAACTTTCAAATATATTTTGATTTGCTTATGACCACCAAGGCAAAACTTCCCATTTCAATAATGTTAGTAGAAACATAAACAGGATGTTAATTTATTTATTTGGTAATTCTTTTTATGAATATTATCCAGTTTAATCATTAGCTCTGAAGGAGATGAAAAATAATTTTCTAATTTTTAGAAAAATTTGCAGCTAATTGGGTGATAAAGGTAAGGGGTTTCTGAGTTCACAAAAATGTTCTAAAATTGGCAACAGTTTCGGTTGCACGTTTCATTAAATGTACTAAAAACCATTGAACTGTACATGGTATATGGTGAATTATATGGTATGTGAATTATATCTCAACAAGCTGGGTATTGTTTTTTTAAAAAATAAAAATAAAAAAGGAGAAAGAGAGAGAGAAAAACAATTGCAGATCATCCCAGCACTGAGGACAAGACTAACTTCAGTGTTCCAGTATATGCCATTATAGGTTTTACGGCACACAGTGATGATTTGGAGCCTATGATTTGACCTAGGGTACAGCAGGTACTGTTTAGCAATCATTTTACTATTGTCATAGGTCTCTGCTCTTGGAGCTAAGTGCCCAGGGTAAATGAGATCTTTAATTTGAAAAGAGATTTTTGATTTGATGAATGTACATTCTCCAAAGGGTCATAAATTGTCATTCTGGATGTTTGATCTGTTTGTTGTTTTGGTACAAAAATTAGAAGAAAATAATTCACTCATAAAATGTTAAATAATGAACTAAAAGTCATTCATCAAGTCCATAACTTAGGGTCACATTTGTCCTTGGAGCAGGAGAAAGAGTTGTGTTCACCCTTTTCTTACTTTTGCTTTTGTCCTAAGTGCTTCAGAGAAGTACAGGGTGGCAACAGTGTTTCTACTGAGCAGCTGATACCATTGCTATGCACTCATTCATTATGCAGGAAACATTTAGTAATTTCAACATAAATATGGGACTCTGACGTTCTCCTCTTCATTTTGCAGAGCAGTCATTATGGCGAACCTTGGCTGCTGGATGCTGGTTCTCTTTGTGGCCACATGGAGTGACCTGGGCCTCTGCAAGAAGCGCCCGAAGCCTGGAGGATGGAACACTGGGGGCAGCCGATACCCGGGGCAGGGCAGCCCTGGAGGCAACCGCTACCCACCTCAGGGCGGTGGTGGCTGGGGGCAGCCTCATGGTGGTGGCTGGGGGCAGCCTCATGGTGGTGGCTGGGGGCAGCCCCATGGTGGTGGCTGGGGACAGCCTCATGGTGGTGGCTGGGGTCAAGGAGGTGGCACCCACAGTCAGTGGAACAAGCCGAGTAAGCCAAAAACCAACATGAAGCACATGGCTGGTGCTGCAGCAGCTGGGGCAGTGGTGGGGGGCCTTGGCGGCTACATGCTGGGAAGTGCCATGAGCAGGCCCATCATACATTTCGGCAGTGACTATGAGGACCGTTACTATCGTGAAAACATGCACCGTTACCCCAACCAAGTGTACTACAGGCCCATGGATGAGTACAGCAACCAGAACAACTTTGTGCACGACTGCGTCAATATCACAATCAAGCAGCACACGGTCACCACAACCACCAAGGGGGAGAACTTCACCGAGACCGACGTTAAGATGATGGAGCGCGTGGTTGAGCAGATGTGTATCACCCAGTACGAGAGGGAATCTCAGGCCTATTACCAGAGAGGATCGAGCATGGTCCTCTTCTCCTCTCCACCTGTGATCCTCCTGATCTCTTTCCTCATCTTCCTGATAGTGGGATGAGGAAGGTCTTCCTGTTTTCACCATCTTTCTAATCTTTTTCCAGCTTGAGGGAGGCGGTATCCACCTGCAGCCCTTTTAGTGGTGGTGTCTCACTCTTTCTTCTCTCTTTGTCCCGGATAGGCTAATCAATACCCTTGGCACTGATGGGCACTGGAAAACATAGAGTAGACCTGAGATGCTGGTCAAGCCCCCTTTGATTGAGTTCATCATGAGCCGTTGCTAATGCCAGGCCAGTAAAAGTATAACAGCAAATAACCATTGGTTAATCTGGACTTATTTTTGGACTTAGTGCAACAGGTTGAGGCTAAAACAAATCTCAGAACAGTCTGAAATACCTTTGCCTGGATACCTCTGGCTCCTTCAGCAGCTAGAGCTCAGTATACTAATGCCCTATCTTAGTAGAGATTTCATAGCTATTTAGAGATATTTTCCATTTTAAGAAAACCCGACAACATTTCTGCCAGGTTTGTTAGGAGGCCACATGATACTTATTCAAAAAAATCCTAGAGATTCTTAGCTCTTGGGATGCAGGCTCAGCCCGCTGGAGCATGAGCTCTGTGTGTACCGAGAACTGGGGTGATGTTTTACTTTTCACAGTATGGGCTACACAGCAGCTGTTCAACAAGAGTAAATATTGTCACAACACTGAACCTCTGGCTAGAGGACATATTCACAGTGAACATAACTGTAACATATATGAAAGGCTTCTGGGACTTGAAATCAAATGTTTGGGAATGGTGCCCTTGGAGGCAACCTCCCATTTTAGATGTTTAAAGGACCCTATATGTGGCATTCCTTTCTTTAAACTATAGGTAATTAAGGCAGCTGAAAAGTAAATTGCCTTCTAGACACTGAAGGCAAATCTCCTTTGTCCATTTACCTGGAAACCAGAATGATTTTGACATACAGGAGAGCTGCAGTTGTGAAAGCACCATCATCATAGAGGATGATGTAATTAAAAAATGGTCAGTGTGCAAAGAAAAGAACTGCTTGCATTTCTTTATTTCTGTCTCATAATTGTCAAAAACCAGAATTAGGTCAAGTTCATAGTTTCTGTAATTGGCTTTTGAATCAAAGAATAGGGAGACAATCTAAAAAATATCTTAGGTTGGAGATGACAGAAATATGATTGATTTGAAGTGGAAAAAGAAATTCTGTTAATGTTAATTAAAGTAAAATTATTCCCTGAATTGTTTGATATTGTCACCTAGCAGATATGTATTACTTTTCTGCAATGTTATTATTGGCTTGCACTTTGTGAGTATTCTATGTAAAAATATATATGTATATAAAATATATATTGCATAGGACAGACTTAGGAGTTTTGTTTAGAGCAGTTAACATCTGAAGTGTCTAATGCATTAACTTTTGTAAGGTACTGAATACTTAATATGTGGGAAACCCTTTTGCGTGGTCCTTAGGCTTACAATGTGCACTGAATCGTTTCATGTAAGAATCCAAAGTGGACACCATTAACAGGTCTTTGAAATATGCATGTACTTTATATTTTCTATATTTGTAACTTTGCATGTTCTTGTTTTGTTATATAAAAAAATTGTAAATGTTTAATATCTGACTGAAATTAAACGAGCGAAGATGAGCACCACCTCCCGTGTCTGCAGTTGTATTTCCTGGTGCTTGCCCTGTGTTGGGGACTGTTTTGGGGGTTAATCTGAGCCAAGTGGCGCTTTCTGTCCTCCCTTCTCAAGTGATGGCCGATGGTTCACGCACTTCCCCCTGTTCCTGCCCTTGTCCTCACTTCCCAGTCACCCACTAGTTCATCTCTGCGGCTTTTGCATTTTCTCCACAAGCATCTAAGTGGGCTTAGCACTGGTAAACTGCAAAGGCACTATTGCAGCAGGAGGAACAGTCTGGGAGCTTTT
AGGGAGGCTGGTTGGGAGGCTGTTGAAGAAATCAGGTGAGAAGTGATGGAAGCACCGAATAAGATGGTCATGTTGGAAAAATTGAGAAGCTGAGGTGCTTAGCATTGATTTTCAAGGTAGAGCTACTGAGATTTGCTGATAGATCCAATGTATGCTGGGAGAGAAAATTCAGTCACTCTAGAGCATTGGCTGGATTTGTCACCCATTGCAGCGAATGGAGAAGGTGCTGACATAAAAGCCCTTTAGACTGAAAGCTACTGACTGAGGGGATGGTGCCCTAGTTTGATTTCCTGGGGTGTATGAGTAGCAGGGAGGCCAAGAGCTGGGCCTCACGAGATTGTGGGGACTACATCAGGGAAGCAGGCCTGCAAAGAACCTGCACCACAGACCCCCACCTAAAAGAGCCTCCAAAAACCCTAACTGGCATGACCTGAGTACTTTAACTCTGCTTGTAACTTTCAAATATATTTTGATTTGCTTATGACCACCAAGGCAAAACTTCCCATTTCAATAATGTTAGTAGAAACATAAACAGGATGTTAATTTATTTATTTGGTAATTCTTTTTATGAATATTATCCAGTTTAATCATTAGCTCTGAAGGAGATGAAAAATAATTTTCTAATTTTTAGAAAAATTTGCAGCTAATTGGGTGATAAAGGTAAGGGGTTTCTGAGTTCACAAAAATGTTCTAAAATTGGCAACAGTTTCGGTTGCACGTTTCATTAAATGTACTAAAAACCATTGAACTGTACATGGTATATGGTGAATTATATGGTATGTGAATTATATCTCAACAAGCTGGGTATTGTTTTTTTAAAAAATAAAAATAAAAAAGGAGAAAGAGAGAGAGAAAAACAATTGCAGATCATCCCAGCACTGAGGACAAGACTAACTTCAGTGTTCCAGTATATGCCATTATAGGTTTTACGGCACACAGTGATGATTTGGAGCCTATGATTTGACCTAGGGTACAGCAGGTACTGTTTAGCAATCATTTTACTATTGTCATAGGTCTCTGCTCTTGGAGCTAAGTGCCCAGGGTAAATGAGATCTTTAATTTGAAAAGAGATTTTTGATTTGATGAATGTACATTCTCCAAAGGGTCATAAATTGTCATTCTGGATGTTTGATCTGTTTGTTGTTTTGGTACAAAAATTAGAAGAAAATAATTCACTCATAAAATGTTAAATAATGAACTAAAAGTCATTCATCAAGTCCATAACTTAGGGTCACATTTGTCCTTGGAGCAGGAGAAAGAGTTGTGTTCACCCTTTTCTTACTTTTGCTTTTGTCCTAAGTGCTTCAGAGAAGTACAGGGTGGCAACAGTGTTTCTACTGAGCAGCTGATACCATTGCTATGCACTCATTCATTATGCAGGAAACATTTAGTAATTTCAACATAAATATGGGACTCTGACGTTCTCCTCTTCATTTTGCAGAGCAGTCATTATGGCGAACCTTGGCTGCTGGATGCTGGTTCTCTTTGTGGCCACATGGAGTGACCTGGGCCTCTGCAAGAAGCGCCCGAAGCCTGGAGGATGGAACACTGGGGGCAGCCGATACCCGGGGCAGGGCAGCCCTGGAGGCAACCGCTACCCACCTCAGGGCGGTGGTGGCTGGGGGCAGCCTCATGGTGGTGGCTGGGGGCAGCCTCATGGTGGTGGCTGGGGGCAGCCCCATGGTGGTGGCTGGGGACAGCCTCATGGTGGTGGCTGGGGTCAAGGAGGTGGCACCCACAGTCAGTGGAACAAGCCGAGTAAGCCAAAAACCAACATGAAGCACATGGCTGGTGCTGCAGCAGCTGGGGCAGTGGTGGGGGGCCTTGGCGGCTACATGCTGGGAAGTGCCATGAGCAGGCCCATCATACATTTCGGCAGTGACTATGAGGACCGTTACTATCGTGAAAACATGCACCGTTACCCCAACCAAGTGTACTACAGGCCCATGGATGAGTACAGCAACCAGAACAACTTTGTGCACGACTGCGTCAATATCACAATCAAGCAGCACACGGTCACCACAACCACCAAGGGGGAGAACTTCACCAAGACCGACGTTAAGATGATGGAGCGCGTGGTTGAGCAGATGTGTATCACCCAGTACGAGAGGGAATCTCAGGCCTATTACCAGAGAGGATCGAGCATGGTCCTCTTCTCCTCTCCACCTGTGATCCTCCTGATCTCTTTCCTCATCTTCCTGATAGTGGGATGAGGAAGGTCTTCCTGTTTTCACCATCTTTCTAATCTTTTTCCAGCTTGAGGGAGGCGGTATCCACCTGCAGCCCTTTTAGTGGTGGTGTCTCACTCTTTCTTCTCTCTTTGTCCCGGATAGGCTAATCAATACCCTTGGCACTGATGGGCACTGGAAAACATAGAGTAGACCTGAGATGCTGGTCAAGCCCCCTTTGATTGAGTTCATCATGAGCCGTTGCTAATGCCAGGCCAGTAAAAGTATAACAGCAAATAACCATTGGTTAATCTGGACTTATTTTTGGACTTAGTGCAACAGGTTGAGGCTAAAACAAATCTCAGAACAGTCTGAAATACCTTTGCCTGGATACCTCTGGCTCCTTCAGCAGCTAGAGCTCAGTATACTAATGCCCTATCTTAGTAGAGATTTCATAGCTATTTAGAGATATTTTCCATTTTAAGAAAACCCGACAACATTTCTGCCAGGTTTGTTAGGAGGCCACATGATACTTATTCAAAAAAATCCTAGAGATTCTTAGCTCTTGGGATGCAGGCTCAGCCCGCTGGAGCATGAGCTCTGTGTGTACCGAGAACTGGGGTGATGTTTTACTTTTCACAGTATGGGCTACACAGCAGCTGTTCAACAAGAGTAAATATTGTCACAACACTGAACCTCTGGCTAGAGGACATATTCACAGTGAACATAACTGTAACATATATGAAAGGCTTCTGGGACTTGAAATCAAATGTTTGGGAATGGTGCCCTTGGAGGCAACCTCCCATTTTAGATGTTTAAAGGACCCTATATGTGGCATTCCTTTCTTTAAACTATAGGTAATTAAGGCAGCTGAAAAGTAAATTGCCTTCTAGACACTGAAGGCAAATCTCCTTTGTCCATTTACCTGGAAACCAGAATGATTTTGACATACAGGAGAGCTGCAGTTGTGAAAGCACCATCATCATAGAGGATGATGTAATTAAAAAATGGTCAGTGTGCAAAGAAAAGAACTGCTTGCATTTCTTTATTTCTGTCTCATAATTGTCAAAAACCAGAATTAGGTCAAGTTCATAGTTTCTGTAATTGGCTTTTGAATCAAAGAATAGGGAGACAATCTAAAAAATATCTTAGGTTGGAGATGACAGAAATATGATTGATTTGAAGTGGAAAAAGAAATTCTGTTAATGTTAATTAAAGTAAAATTATTCCCTGAATTGTTTGATATTGTCACCTAGCAGATATGTATTACTTTTCTGCAATGTTATTATTGGCTTGCACTTTGTGAGTATTCTATGTAAAAATATATATGTATATAAAATATATATTGCATAGGACAGACTTAGGAGTTTTGTTTAGAGCAGTTAACATCTGAAGTGTCTAATGCATTAACTTTTGTAAGGTACTGAATACTTAATATGTGGGAAACCCTTTTGCGTGGTCCTTAGGCTTACAATGTGCACTGAATCGTTTCATGTAAGAATCCAAAGTGGACACCATTAACAGGTCTTTGAAATATGCATGTACTTTATATTTTCTATATTTGTAACTTTGCATGTTCTTGTTTTGTTATATAAAAAAATTGTAAATGTTTAATATCTGACTGAAATTAAACGAGCGAAGATGAGCACCACCTCCCGTGTCTGCAGTTGTATTTCCTGGTGCTTGCCCTGTGTTGGGGACTGTTTTGGGGGTTAATCTGAGCCAAGTGGCGCTTTCTGTCCTCCCTTCTCAAGTGATGGCCGATGGTTCACGCACTTCCCCCTGTTCCTGCCCTTGTCCTCACTTCCCAGTCACCCACTAGTTCATCTCTGCGGCTTTTGCATTTTCTCCACAAGCATCTAAGTGGGCTTAGCACTGGTAAACTGCAAAGGCACTATTGCAGCAGGAGGAACAGTCTGGGAGCTTTT
Task1_train_27698
A variant was discovered on Chromosome 20, affecting PRNP (prion protein (Kanno blood group)). What is its functional impact — neutral or pathogenic? State the disease if pathogenic.
Pathogenic; Spongiform encephalopathy with neuropsychiatric features
AGGGAGGCTGGTTGGGAGGCTGTTGAAGAAATCAGGTGAGAAGTGATGGAAGCACCGAATAAGATGGTCATGTTGGAAAAATTGAGAAGCTGAGGTGCTTAGCATTGATTTTCAAGGTAGAGCTACTGAGATTTGCTGATAGATCCAATGTATGCTGGGAGAGAAAATTCAGTCACTCTAGAGCATTGGCTGGATTTGTCACCCATTGCAGCGAATGGAGAAGGTGCTGACATAAAAGCCCTTTAGACTGAAAGCTACTGACTGAGGGGATGGTGCCCTAGTTTGATTTCCTGGGGTGTATGAGTAGCAGGGAGGCCAAGAGCTGGGCCTCACGAGATTGTGGGGACTACATCAGGGAAGCAGGCCTGCAAAGAACCTGCACCACAGACCCCCACCTAAAAGAGCCTCCAAAAACCCTAACTGGCATGACCTGAGTACTTTAACTCTGCTTGTAACTTTCAAATATATTTTGATTTGCTTATGACCACCAAGGCAAAACTTCCCATTTCAATAATGTTAGTAGAAACATAAACAGGATGTTAATTTATTTATTTGGTAATTCTTTTTATGAATATTATCCAGTTTAATCATTAGCTCTGAAGGAGATGAAAAATAATTTTCTAATTTTTAGAAAAATTTGCAGCTAATTGGGTGATAAAGGTAAGGGGTTTCTGAGTTCACAAAAATGTTCTAAAATTGGCAACAGTTTCGGTTGCACGTTTCATTAAATGTACTAAAAACCATTGAACTGTACATGGTATATGGTGAATTATATGGTATGTGAATTATATCTCAACAAGCTGGGTATTGTTTTTTTAAAAAATAAAAATAAAAAAGGAGAAAGAGAGAGAGAAAAACAATTGCAGATCATCCCAGCACTGAGGACAAGACTAACTTCAGTGTTCCAGTATATGCCATTATAGGTTTTACGGCACACAGTGATGATTTGGAGCCTATGATTTGACCTAGGGTACAGCAGGTACTGTTTAGCAATCATTTTACTATTGTCATAGGTCTCTGCTCTTGGAGCTAAGTGCCCAGGGTAAATGAGATCTTTAATTTGAAAAGAGATTTTTGATTTGATGAATGTACATTCTCCAAAGGGTCATAAATTGTCATTCTGGATGTTTGATCTGTTTGTTGTTTTGGTACAAAAATTAGAAGAAAATAATTCACTCATAAAATGTTAAATAATGAACTAAAAGTCATTCATCAAGTCCATAACTTAGGGTCACATTTGTCCTTGGAGCAGGAGAAAGAGTTGTGTTCACCCTTTTCTTACTTTTGCTTTTGTCCTAAGTGCTTCAGAGAAGTACAGGGTGGCAACAGTGTTTCTACTGAGCAGCTGATACCATTGCTATGCACTCATTCATTATGCAGGAAACATTTAGTAATTTCAACATAAATATGGGACTCTGACGTTCTCCTCTTCATTTTGCAGAGCAGTCATTATGGCGAACCTTGGCTGCTGGATGCTGGTTCTCTTTGTGGCCACATGGAGTGACCTGGGCCTCTGCAAGAAGCGCCCGAAGCCTGGAGGATGGAACACTGGGGGCAGCCGATACCCGGGGCAGGGCAGCCCTGGAGGCAACCGCTACCCACCTCAGGGCGGTGGTGGCTGGGGGCAGCCTCATGGTGGTGGCTGGGGGCAGCCTCATGGTGGTGGCTGGGGGCAGCCCCATGGTGGTGGCTGGGGACAGCCTCATGGTGGTGGCTGGGGTCAAGGAGGTGGCACCCACAGTCAGTGGAACAAGCCGAGTAAGCCAAAAACCAACATGAAGCACATGGCTGGTGCTGCAGCAGCTGGGGCAGTGGTGGGGGGCCTTGGCGGCTACATGCTGGGAAGTGCCATGAGCAGGCCCATCATACATTTCGGCAGTGACTATGAGGACCGTTACTATCGTGAAAACATGCACCGTTACCCCAACCAAGTGTACTACAGGCCCATGGATGAGTACAGCAACCAGAACAACTTTGTGCACGACTGCGTCAATATCACAATCAAGCAGCACACGGTCACCACAACCACCAAGGGGGAGAACTTCACCGAGACCGACGTTAAGATGATGGAGCGCGTGGTTGAGCAGATGTGTATCACCCAGTACGAGAGGGAATCTCAGGCCTATTACCAGAGAGGATCGAGCATGGTCCTCTTCTCCTCTCCACCTGTGATCCTCCTGATCTCTTTCCTCATCTTCCTGATAGTGGGATGAGGAAGGTCTTCCTGTTTTCACCATCTTTCTAATCTTTTTCCAGCTTGAGGGAGGCGGTATCCACCTGCAGCCCTTTTAGTGGTGGTGTCTCACTCTTTCTTCTCTCTTTGTCCCGGATAGGCTAATCAATACCCTTGGCACTGATGGGCACTGGAAAACATAGAGTAGACCTGAGATGCTGGTCAAGCCCCCTTTGATTGAGTTCATCATGAGCCGTTGCTAATGCCAGGCCAGTAAAAGTATAACAGCAAATAACCATTGGTTAATCTGGACTTATTTTTGGACTTAGTGCAACAGGTTGAGGCTAAAACAAATCTCAGAACAGTCTGAAATACCTTTGCCTGGATACCTCTGGCTCCTTCAGCAGCTAGAGCTCAGTATACTAATGCCCTATCTTAGTAGAGATTTCATAGCTATTTAGAGATATTTTCCATTTTAAGAAAACCCGACAACATTTCTGCCAGGTTTGTTAGGAGGCCACATGATACTTATTCAAAAAAATCCTAGAGATTCTTAGCTCTTGGGATGCAGGCTCAGCCCGCTGGAGCATGAGCTCTGTGTGTACCGAGAACTGGGGTGATGTTTTACTTTTCACAGTATGGGCTACACAGCAGCTGTTCAACAAGAGTAAATATTGTCACAACACTGAACCTCTGGCTAGAGGACATATTCACAGTGAACATAACTGTAACATATATGAAAGGCTTCTGGGACTTGAAATCAAATGTTTGGGAATGGTGCCCTTGGAGGCAACCTCCCATTTTAGATGTTTAAAGGACCCTATATGTGGCATTCCTTTCTTTAAACTATAGGTAATTAAGGCAGCTGAAAAGTAAATTGCCTTCTAGACACTGAAGGCAAATCTCCTTTGTCCATTTACCTGGAAACCAGAATGATTTTGACATACAGGAGAGCTGCAGTTGTGAAAGCACCATCATCATAGAGGATGATGTAATTAAAAAATGGTCAGTGTGCAAAGAAAAGAACTGCTTGCATTTCTTTATTTCTGTCTCATAATTGTCAAAAACCAGAATTAGGTCAAGTTCATAGTTTCTGTAATTGGCTTTTGAATCAAAGAATAGGGAGACAATCTAAAAAATATCTTAGGTTGGAGATGACAGAAATATGATTGATTTGAAGTGGAAAAAGAAATTCTGTTAATGTTAATTAAAGTAAAATTATTCCCTGAATTGTTTGATATTGTCACCTAGCAGATATGTATTACTTTTCTGCAATGTTATTATTGGCTTGCACTTTGTGAGTATTCTATGTAAAAATATATATGTATATAAAATATATATTGCATAGGACAGACTTAGGAGTTTTGTTTAGAGCAGTTAACATCTGAAGTGTCTAATGCATTAACTTTTGTAAGGTACTGAATACTTAATATGTGGGAAACCCTTTTGCGTGGTCCTTAGGCTTACAATGTGCACTGAATCGTTTCATGTAAGAATCCAAAGTGGACACCATTAACAGGTCTTTGAAATATGCATGTACTTTATATTTTCTATATTTGTAACTTTGCATGTTCTTGTTTTGTTATATAAAAAAATTGTAAATGTTTAATATCTGACTGAAATTAAACGAGCGAAGATGAGCACCACCTCCCGTGTCTGCAGTTGTATTTCCTGGTGCTTGCCCTGTGTTGGGGACTGTTTTGGGGGTTAATCTGAGCCAAGTGGCGCTTTCTGTCCTCCCTTCTCAAGTGATGGCCGATGGTTCACGCACTTCCCCCTGTTCCTGCCCTTGTCCTCACTTCCCAGTCACCCACTAGTTCATCTCTGCGGCTTTTGCATTTTCTCCACAAGCATCTAAGTGGGCTTAGCACTGGTAAACTGCAAAGGCACTATTGCAGCAGGAGGAACAGTCTGGGAGCTTTT
AGGGAGGCTGGTTGGGAGGCTGTTGAAGAAATCAGGTGAGAAGTGATGGAAGCACCGAATAAGATGGTCATGTTGGAAAAATTGAGAAGCTGAGGTGCTTAGCATTGATTTTCAAGGTAGAGCTACTGAGATTTGCTGATAGATCCAATGTATGCTGGGAGAGAAAATTCAGTCACTCTAGAGCATTGGCTGGATTTGTCACCCATTGCAGCGAATGGAGAAGGTGCTGACATAAAAGCCCTTTAGACTGAAAGCTACTGACTGAGGGGATGGTGCCCTAGTTTGATTTCCTGGGGTGTATGAGTAGCAGGGAGGCCAAGAGCTGGGCCTCACGAGATTGTGGGGACTACATCAGGGAAGCAGGCCTGCAAAGAACCTGCACCACAGACCCCCACCTAAAAGAGCCTCCAAAAACCCTAACTGGCATGACCTGAGTACTTTAACTCTGCTTGTAACTTTCAAATATATTTTGATTTGCTTATGACCACCAAGGCAAAACTTCCCATTTCAATAATGTTAGTAGAAACATAAACAGGATGTTAATTTATTTATTTGGTAATTCTTTTTATGAATATTATCCAGTTTAATCATTAGCTCTGAAGGAGATGAAAAATAATTTTCTAATTTTTAGAAAAATTTGCAGCTAATTGGGTGATAAAGGTAAGGGGTTTCTGAGTTCACAAAAATGTTCTAAAATTGGCAACAGTTTCGGTTGCACGTTTCATTAAATGTACTAAAAACCATTGAACTGTACATGGTATATGGTGAATTATATGGTATGTGAATTATATCTCAACAAGCTGGGTATTGTTTTTTTAAAAAATAAAAATAAAAAAGGAGAAAGAGAGAGAGAAAAACAATTGCAGATCATCCCAGCACTGAGGACAAGACTAACTTCAGTGTTCCAGTATATGCCATTATAGGTTTTACGGCACACAGTGATGATTTGGAGCCTATGATTTGACCTAGGGTACAGCAGGTACTGTTTAGCAATCATTTTACTATTGTCATAGGTCTCTGCTCTTGGAGCTAAGTGCCCAGGGTAAATGAGATCTTTAATTTGAAAAGAGATTTTTGATTTGATGAATGTACATTCTCCAAAGGGTCATAAATTGTCATTCTGGATGTTTGATCTGTTTGTTGTTTTGGTACAAAAATTAGAAGAAAATAATTCACTCATAAAATGTTAAATAATGAACTAAAAGTCATTCATCAAGTCCATAACTTAGGGTCACATTTGTCCTTGGAGCAGGAGAAAGAGTTGTGTTCACCCTTTTCTTACTTTTGCTTTTGTCCTAAGTGCTTCAGAGAAGTACAGGGTGGCAACAGTGTTTCTACTGAGCAGCTGATACCATTGCTATGCACTCATTCATTATGCAGGAAACATTTAGTAATTTCAACATAAATATGGGACTCTGACGTTCTCCTCTTCATTTTGCAGAGCAGTCATTATGGCGAACCTTGGCTGCTGGATGCTGGTTCTCTTTGTGGCCACATGGAGTGACCTGGGCCTCTGCAAGAAGCGCCCGAAGCCTGGAGGATGGAACACTGGGGGCAGCCGATACCCGGGGCAGGGCAGCCCTGGAGGCAACCGCTACCCACCTCAGGGCGGTGGTGGCTGGGGGCAGCCTCATGGTGGTGGCTGGGGGCAGCCTCATGGTGGTGGCTGGGGGCAGCCCCATGGTGGTGGCTGGGGACAGCCTCATGGTGGTGGCTGGGGTCAAGGAGGTGGCACCCACAGTCAGTGGAACAAGCCGAGTAAGCCAAAAACCAACATGAAGCACATGGCTGGTGCTGCAGCAGCTGGGGCAGTGGTGGGGGGCCTTGGCGGCTACATGCTGGGAAGTGCCATGAGCAGGCCCATCATACATTTCGGCAGTGACTATGAGGACCGTTACTATCGTGAAAACATGCACCGTTACCCCAACCAAGTGTACTACAGGCCCATGGATGAGTACAGCAACCAGAACAACTTTGTGCACGACTGCGTCAATATCACAATCAAGCAGCACACGGTCACCACAACCACCAAGGGGGAGAACTTCACCAAGACCGACGTTAAGATGATGGAGCGCGTGGTTGAGCAGATGTGTATCACCCAGTACGAGAGGGAATCTCAGGCCTATTACCAGAGAGGATCGAGCATGGTCCTCTTCTCCTCTCCACCTGTGATCCTCCTGATCTCTTTCCTCATCTTCCTGATAGTGGGATGAGGAAGGTCTTCCTGTTTTCACCATCTTTCTAATCTTTTTCCAGCTTGAGGGAGGCGGTATCCACCTGCAGCCCTTTTAGTGGTGGTGTCTCACTCTTTCTTCTCTCTTTGTCCCGGATAGGCTAATCAATACCCTTGGCACTGATGGGCACTGGAAAACATAGAGTAGACCTGAGATGCTGGTCAAGCCCCCTTTGATTGAGTTCATCATGAGCCGTTGCTAATGCCAGGCCAGTAAAAGTATAACAGCAAATAACCATTGGTTAATCTGGACTTATTTTTGGACTTAGTGCAACAGGTTGAGGCTAAAACAAATCTCAGAACAGTCTGAAATACCTTTGCCTGGATACCTCTGGCTCCTTCAGCAGCTAGAGCTCAGTATACTAATGCCCTATCTTAGTAGAGATTTCATAGCTATTTAGAGATATTTTCCATTTTAAGAAAACCCGACAACATTTCTGCCAGGTTTGTTAGGAGGCCACATGATACTTATTCAAAAAAATCCTAGAGATTCTTAGCTCTTGGGATGCAGGCTCAGCCCGCTGGAGCATGAGCTCTGTGTGTACCGAGAACTGGGGTGATGTTTTACTTTTCACAGTATGGGCTACACAGCAGCTGTTCAACAAGAGTAAATATTGTCACAACACTGAACCTCTGGCTAGAGGACATATTCACAGTGAACATAACTGTAACATATATGAAAGGCTTCTGGGACTTGAAATCAAATGTTTGGGAATGGTGCCCTTGGAGGCAACCTCCCATTTTAGATGTTTAAAGGACCCTATATGTGGCATTCCTTTCTTTAAACTATAGGTAATTAAGGCAGCTGAAAAGTAAATTGCCTTCTAGACACTGAAGGCAAATCTCCTTTGTCCATTTACCTGGAAACCAGAATGATTTTGACATACAGGAGAGCTGCAGTTGTGAAAGCACCATCATCATAGAGGATGATGTAATTAAAAAATGGTCAGTGTGCAAAGAAAAGAACTGCTTGCATTTCTTTATTTCTGTCTCATAATTGTCAAAAACCAGAATTAGGTCAAGTTCATAGTTTCTGTAATTGGCTTTTGAATCAAAGAATAGGGAGACAATCTAAAAAATATCTTAGGTTGGAGATGACAGAAATATGATTGATTTGAAGTGGAAAAAGAAATTCTGTTAATGTTAATTAAAGTAAAATTATTCCCTGAATTGTTTGATATTGTCACCTAGCAGATATGTATTACTTTTCTGCAATGTTATTATTGGCTTGCACTTTGTGAGTATTCTATGTAAAAATATATATGTATATAAAATATATATTGCATAGGACAGACTTAGGAGTTTTGTTTAGAGCAGTTAACATCTGAAGTGTCTAATGCATTAACTTTTGTAAGGTACTGAATACTTAATATGTGGGAAACCCTTTTGCGTGGTCCTTAGGCTTACAATGTGCACTGAATCGTTTCATGTAAGAATCCAAAGTGGACACCATTAACAGGTCTTTGAAATATGCATGTACTTTATATTTTCTATATTTGTAACTTTGCATGTTCTTGTTTTGTTATATAAAAAAATTGTAAATGTTTAATATCTGACTGAAATTAAACGAGCGAAGATGAGCACCACCTCCCGTGTCTGCAGTTGTATTTCCTGGTGCTTGCCCTGTGTTGGGGACTGTTTTGGGGGTTAATCTGAGCCAAGTGGCGCTTTCTGTCCTCCCTTCTCAAGTGATGGCCGATGGTTCACGCACTTCCCCCTGTTCCTGCCCTTGTCCTCACTTCCCAGTCACCCACTAGTTCATCTCTGCGGCTTTTGCATTTTCTCCACAAGCATCTAAGTGGGCTTAGCACTGGTAAACTGCAAAGGCACTATTGCAGCAGGAGGAACAGTCTGGGAGCTTTT
Task1_train_27699
This gene mutation involves PRNP (prion protein (Kanno blood group)) on Chromosome 20. Is it associated with any clinical condition, or is it benign?
Pathogenic; Huntington disease-like 1
AGGGAGGCTGGTTGGGAGGCTGTTGAAGAAATCAGGTGAGAAGTGATGGAAGCACCGAATAAGATGGTCATGTTGGAAAAATTGAGAAGCTGAGGTGCTTAGCATTGATTTTCAAGGTAGAGCTACTGAGATTTGCTGATAGATCCAATGTATGCTGGGAGAGAAAATTCAGTCACTCTAGAGCATTGGCTGGATTTGTCACCCATTGCAGCGAATGGAGAAGGTGCTGACATAAAAGCCCTTTAGACTGAAAGCTACTGACTGAGGGGATGGTGCCCTAGTTTGATTTCCTGGGGTGTATGAGTAGCAGGGAGGCCAAGAGCTGGGCCTCACGAGATTGTGGGGACTACATCAGGGAAGCAGGCCTGCAAAGAACCTGCACCACAGACCCCCACCTAAAAGAGCCTCCAAAAACCCTAACTGGCATGACCTGAGTACTTTAACTCTGCTTGTAACTTTCAAATATATTTTGATTTGCTTATGACCACCAAGGCAAAACTTCCCATTTCAATAATGTTAGTAGAAACATAAACAGGATGTTAATTTATTTATTTGGTAATTCTTTTTATGAATATTATCCAGTTTAATCATTAGCTCTGAAGGAGATGAAAAATAATTTTCTAATTTTTAGAAAAATTTGCAGCTAATTGGGTGATAAAGGTAAGGGGTTTCTGAGTTCACAAAAATGTTCTAAAATTGGCAACAGTTTCGGTTGCACGTTTCATTAAATGTACTAAAAACCATTGAACTGTACATGGTATATGGTGAATTATATGGTATGTGAATTATATCTCAACAAGCTGGGTATTGTTTTTTTAAAAAATAAAAATAAAAAAGGAGAAAGAGAGAGAGAAAAACAATTGCAGATCATCCCAGCACTGAGGACAAGACTAACTTCAGTGTTCCAGTATATGCCATTATAGGTTTTACGGCACACAGTGATGATTTGGAGCCTATGATTTGACCTAGGGTACAGCAGGTACTGTTTAGCAATCATTTTACTATTGTCATAGGTCTCTGCTCTTGGAGCTAAGTGCCCAGGGTAAATGAGATCTTTAATTTGAAAAGAGATTTTTGATTTGATGAATGTACATTCTCCAAAGGGTCATAAATTGTCATTCTGGATGTTTGATCTGTTTGTTGTTTTGGTACAAAAATTAGAAGAAAATAATTCACTCATAAAATGTTAAATAATGAACTAAAAGTCATTCATCAAGTCCATAACTTAGGGTCACATTTGTCCTTGGAGCAGGAGAAAGAGTTGTGTTCACCCTTTTCTTACTTTTGCTTTTGTCCTAAGTGCTTCAGAGAAGTACAGGGTGGCAACAGTGTTTCTACTGAGCAGCTGATACCATTGCTATGCACTCATTCATTATGCAGGAAACATTTAGTAATTTCAACATAAATATGGGACTCTGACGTTCTCCTCTTCATTTTGCAGAGCAGTCATTATGGCGAACCTTGGCTGCTGGATGCTGGTTCTCTTTGTGGCCACATGGAGTGACCTGGGCCTCTGCAAGAAGCGCCCGAAGCCTGGAGGATGGAACACTGGGGGCAGCCGATACCCGGGGCAGGGCAGCCCTGGAGGCAACCGCTACCCACCTCAGGGCGGTGGTGGCTGGGGGCAGCCTCATGGTGGTGGCTGGGGGCAGCCTCATGGTGGTGGCTGGGGGCAGCCCCATGGTGGTGGCTGGGGACAGCCTCATGGTGGTGGCTGGGGTCAAGGAGGTGGCACCCACAGTCAGTGGAACAAGCCGAGTAAGCCAAAAACCAACATGAAGCACATGGCTGGTGCTGCAGCAGCTGGGGCAGTGGTGGGGGGCCTTGGCGGCTACATGCTGGGAAGTGCCATGAGCAGGCCCATCATACATTTCGGCAGTGACTATGAGGACCGTTACTATCGTGAAAACATGCACCGTTACCCCAACCAAGTGTACTACAGGCCCATGGATGAGTACAGCAACCAGAACAACTTTGTGCACGACTGCGTCAATATCACAATCAAGCAGCACACGGTCACCACAACCACCAAGGGGGAGAACTTCACCGAGACCGACGTTAAGATGATGGAGCGCGTGGTTGAGCAGATGTGTATCACCCAGTACGAGAGGGAATCTCAGGCCTATTACCAGAGAGGATCGAGCATGGTCCTCTTCTCCTCTCCACCTGTGATCCTCCTGATCTCTTTCCTCATCTTCCTGATAGTGGGATGAGGAAGGTCTTCCTGTTTTCACCATCTTTCTAATCTTTTTCCAGCTTGAGGGAGGCGGTATCCACCTGCAGCCCTTTTAGTGGTGGTGTCTCACTCTTTCTTCTCTCTTTGTCCCGGATAGGCTAATCAATACCCTTGGCACTGATGGGCACTGGAAAACATAGAGTAGACCTGAGATGCTGGTCAAGCCCCCTTTGATTGAGTTCATCATGAGCCGTTGCTAATGCCAGGCCAGTAAAAGTATAACAGCAAATAACCATTGGTTAATCTGGACTTATTTTTGGACTTAGTGCAACAGGTTGAGGCTAAAACAAATCTCAGAACAGTCTGAAATACCTTTGCCTGGATACCTCTGGCTCCTTCAGCAGCTAGAGCTCAGTATACTAATGCCCTATCTTAGTAGAGATTTCATAGCTATTTAGAGATATTTTCCATTTTAAGAAAACCCGACAACATTTCTGCCAGGTTTGTTAGGAGGCCACATGATACTTATTCAAAAAAATCCTAGAGATTCTTAGCTCTTGGGATGCAGGCTCAGCCCGCTGGAGCATGAGCTCTGTGTGTACCGAGAACTGGGGTGATGTTTTACTTTTCACAGTATGGGCTACACAGCAGCTGTTCAACAAGAGTAAATATTGTCACAACACTGAACCTCTGGCTAGAGGACATATTCACAGTGAACATAACTGTAACATATATGAAAGGCTTCTGGGACTTGAAATCAAATGTTTGGGAATGGTGCCCTTGGAGGCAACCTCCCATTTTAGATGTTTAAAGGACCCTATATGTGGCATTCCTTTCTTTAAACTATAGGTAATTAAGGCAGCTGAAAAGTAAATTGCCTTCTAGACACTGAAGGCAAATCTCCTTTGTCCATTTACCTGGAAACCAGAATGATTTTGACATACAGGAGAGCTGCAGTTGTGAAAGCACCATCATCATAGAGGATGATGTAATTAAAAAATGGTCAGTGTGCAAAGAAAAGAACTGCTTGCATTTCTTTATTTCTGTCTCATAATTGTCAAAAACCAGAATTAGGTCAAGTTCATAGTTTCTGTAATTGGCTTTTGAATCAAAGAATAGGGAGACAATCTAAAAAATATCTTAGGTTGGAGATGACAGAAATATGATTGATTTGAAGTGGAAAAAGAAATTCTGTTAATGTTAATTAAAGTAAAATTATTCCCTGAATTGTTTGATATTGTCACCTAGCAGATATGTATTACTTTTCTGCAATGTTATTATTGGCTTGCACTTTGTGAGTATTCTATGTAAAAATATATATGTATATAAAATATATATTGCATAGGACAGACTTAGGAGTTTTGTTTAGAGCAGTTAACATCTGAAGTGTCTAATGCATTAACTTTTGTAAGGTACTGAATACTTAATATGTGGGAAACCCTTTTGCGTGGTCCTTAGGCTTACAATGTGCACTGAATCGTTTCATGTAAGAATCCAAAGTGGACACCATTAACAGGTCTTTGAAATATGCATGTACTTTATATTTTCTATATTTGTAACTTTGCATGTTCTTGTTTTGTTATATAAAAAAATTGTAAATGTTTAATATCTGACTGAAATTAAACGAGCGAAGATGAGCACCACCTCCCGTGTCTGCAGTTGTATTTCCTGGTGCTTGCCCTGTGTTGGGGACTGTTTTGGGGGTTAATCTGAGCCAAGTGGCGCTTTCTGTCCTCCCTTCTCAAGTGATGGCCGATGGTTCACGCACTTCCCCCTGTTCCTGCCCTTGTCCTCACTTCCCAGTCACCCACTAGTTCATCTCTGCGGCTTTTGCATTTTCTCCACAAGCATCTAAGTGGGCTTAGCACTGGTAAACTGCAAAGGCACTATTGCAGCAGGAGGAACAGTCTGGGAGCTTTT
AGGGAGGCTGGTTGGGAGGCTGTTGAAGAAATCAGGTGAGAAGTGATGGAAGCACCGAATAAGATGGTCATGTTGGAAAAATTGAGAAGCTGAGGTGCTTAGCATTGATTTTCAAGGTAGAGCTACTGAGATTTGCTGATAGATCCAATGTATGCTGGGAGAGAAAATTCAGTCACTCTAGAGCATTGGCTGGATTTGTCACCCATTGCAGCGAATGGAGAAGGTGCTGACATAAAAGCCCTTTAGACTGAAAGCTACTGACTGAGGGGATGGTGCCCTAGTTTGATTTCCTGGGGTGTATGAGTAGCAGGGAGGCCAAGAGCTGGGCCTCACGAGATTGTGGGGACTACATCAGGGAAGCAGGCCTGCAAAGAACCTGCACCACAGACCCCCACCTAAAAGAGCCTCCAAAAACCCTAACTGGCATGACCTGAGTACTTTAACTCTGCTTGTAACTTTCAAATATATTTTGATTTGCTTATGACCACCAAGGCAAAACTTCCCATTTCAATAATGTTAGTAGAAACATAAACAGGATGTTAATTTATTTATTTGGTAATTCTTTTTATGAATATTATCCAGTTTAATCATTAGCTCTGAAGGAGATGAAAAATAATTTTCTAATTTTTAGAAAAATTTGCAGCTAATTGGGTGATAAAGGTAAGGGGTTTCTGAGTTCACAAAAATGTTCTAAAATTGGCAACAGTTTCGGTTGCACGTTTCATTAAATGTACTAAAAACCATTGAACTGTACATGGTATATGGTGAATTATATGGTATGTGAATTATATCTCAACAAGCTGGGTATTGTTTTTTTAAAAAATAAAAATAAAAAAGGAGAAAGAGAGAGAGAAAAACAATTGCAGATCATCCCAGCACTGAGGACAAGACTAACTTCAGTGTTCCAGTATATGCCATTATAGGTTTTACGGCACACAGTGATGATTTGGAGCCTATGATTTGACCTAGGGTACAGCAGGTACTGTTTAGCAATCATTTTACTATTGTCATAGGTCTCTGCTCTTGGAGCTAAGTGCCCAGGGTAAATGAGATCTTTAATTTGAAAAGAGATTTTTGATTTGATGAATGTACATTCTCCAAAGGGTCATAAATTGTCATTCTGGATGTTTGATCTGTTTGTTGTTTTGGTACAAAAATTAGAAGAAAATAATTCACTCATAAAATGTTAAATAATGAACTAAAAGTCATTCATCAAGTCCATAACTTAGGGTCACATTTGTCCTTGGAGCAGGAGAAAGAGTTGTGTTCACCCTTTTCTTACTTTTGCTTTTGTCCTAAGTGCTTCAGAGAAGTACAGGGTGGCAACAGTGTTTCTACTGAGCAGCTGATACCATTGCTATGCACTCATTCATTATGCAGGAAACATTTAGTAATTTCAACATAAATATGGGACTCTGACGTTCTCCTCTTCATTTTGCAGAGCAGTCATTATGGCGAACCTTGGCTGCTGGATGCTGGTTCTCTTTGTGGCCACATGGAGTGACCTGGGCCTCTGCAAGAAGCGCCCGAAGCCTGGAGGATGGAACACTGGGGGCAGCCGATACCCGGGGCAGGGCAGCCCTGGAGGCAACCGCTACCCACCTCAGGGCGGTGGTGGCTGGGGGCAGCCTCATGGTGGTGGCTGGGGGCAGCCTCATGGTGGTGGCTGGGGGCAGCCCCATGGTGGTGGCTGGGGACAGCCTCATGGTGGTGGCTGGGGTCAAGGAGGTGGCACCCACAGTCAGTGGAACAAGCCGAGTAAGCCAAAAACCAACATGAAGCACATGGCTGGTGCTGCAGCAGCTGGGGCAGTGGTGGGGGGCCTTGGCGGCTACATGCTGGGAAGTGCCATGAGCAGGCCCATCATACATTTCGGCAGTGACTATGAGGACCGTTACTATCGTGAAAACATGCACCGTTACCCCAACCAAGTGTACTACAGGCCCATGGATGAGTACAGCAACCAGAACAACTTTGTGCACGACTGCGTCAATATCACAATCAAGCAGCACACGGTCACCACAACCACCAAGGGGGAGAACTTCACCAAGACCGACGTTAAGATGATGGAGCGCGTGGTTGAGCAGATGTGTATCACCCAGTACGAGAGGGAATCTCAGGCCTATTACCAGAGAGGATCGAGCATGGTCCTCTTCTCCTCTCCACCTGTGATCCTCCTGATCTCTTTCCTCATCTTCCTGATAGTGGGATGAGGAAGGTCTTCCTGTTTTCACCATCTTTCTAATCTTTTTCCAGCTTGAGGGAGGCGGTATCCACCTGCAGCCCTTTTAGTGGTGGTGTCTCACTCTTTCTTCTCTCTTTGTCCCGGATAGGCTAATCAATACCCTTGGCACTGATGGGCACTGGAAAACATAGAGTAGACCTGAGATGCTGGTCAAGCCCCCTTTGATTGAGTTCATCATGAGCCGTTGCTAATGCCAGGCCAGTAAAAGTATAACAGCAAATAACCATTGGTTAATCTGGACTTATTTTTGGACTTAGTGCAACAGGTTGAGGCTAAAACAAATCTCAGAACAGTCTGAAATACCTTTGCCTGGATACCTCTGGCTCCTTCAGCAGCTAGAGCTCAGTATACTAATGCCCTATCTTAGTAGAGATTTCATAGCTATTTAGAGATATTTTCCATTTTAAGAAAACCCGACAACATTTCTGCCAGGTTTGTTAGGAGGCCACATGATACTTATTCAAAAAAATCCTAGAGATTCTTAGCTCTTGGGATGCAGGCTCAGCCCGCTGGAGCATGAGCTCTGTGTGTACCGAGAACTGGGGTGATGTTTTACTTTTCACAGTATGGGCTACACAGCAGCTGTTCAACAAGAGTAAATATTGTCACAACACTGAACCTCTGGCTAGAGGACATATTCACAGTGAACATAACTGTAACATATATGAAAGGCTTCTGGGACTTGAAATCAAATGTTTGGGAATGGTGCCCTTGGAGGCAACCTCCCATTTTAGATGTTTAAAGGACCCTATATGTGGCATTCCTTTCTTTAAACTATAGGTAATTAAGGCAGCTGAAAAGTAAATTGCCTTCTAGACACTGAAGGCAAATCTCCTTTGTCCATTTACCTGGAAACCAGAATGATTTTGACATACAGGAGAGCTGCAGTTGTGAAAGCACCATCATCATAGAGGATGATGTAATTAAAAAATGGTCAGTGTGCAAAGAAAAGAACTGCTTGCATTTCTTTATTTCTGTCTCATAATTGTCAAAAACCAGAATTAGGTCAAGTTCATAGTTTCTGTAATTGGCTTTTGAATCAAAGAATAGGGAGACAATCTAAAAAATATCTTAGGTTGGAGATGACAGAAATATGATTGATTTGAAGTGGAAAAAGAAATTCTGTTAATGTTAATTAAAGTAAAATTATTCCCTGAATTGTTTGATATTGTCACCTAGCAGATATGTATTACTTTTCTGCAATGTTATTATTGGCTTGCACTTTGTGAGTATTCTATGTAAAAATATATATGTATATAAAATATATATTGCATAGGACAGACTTAGGAGTTTTGTTTAGAGCAGTTAACATCTGAAGTGTCTAATGCATTAACTTTTGTAAGGTACTGAATACTTAATATGTGGGAAACCCTTTTGCGTGGTCCTTAGGCTTACAATGTGCACTGAATCGTTTCATGTAAGAATCCAAAGTGGACACCATTAACAGGTCTTTGAAATATGCATGTACTTTATATTTTCTATATTTGTAACTTTGCATGTTCTTGTTTTGTTATATAAAAAAATTGTAAATGTTTAATATCTGACTGAAATTAAACGAGCGAAGATGAGCACCACCTCCCGTGTCTGCAGTTGTATTTCCTGGTGCTTGCCCTGTGTTGGGGACTGTTTTGGGGGTTAATCTGAGCCAAGTGGCGCTTTCTGTCCTCCCTTCTCAAGTGATGGCCGATGGTTCACGCACTTCCCCCTGTTCCTGCCCTTGTCCTCACTTCCCAGTCACCCACTAGTTCATCTCTGCGGCTTTTGCATTTTCTCCACAAGCATCTAAGTGGGCTTAGCACTGGTAAACTGCAAAGGCACTATTGCAGCAGGAGGAACAGTCTGGGAGCTTTT