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_24700
A mutation on Chromosome 17 affecting SLC4A1 (solute carrier family 4 member 1 (Diego blood group)) has been found. Is it harmful or harmless? What disease, if any, does it cause?
Pathogenic; Autosomal dominant distal renal tubular acidosis
CATTTTGCATTTTTTTTTCTTTTTCTTTTTTTTCCTAGAGTCTTGCTCTGTCGCCCAGGCTGGAGTGCAGTGGTGCGATTTTGGCTCACTGCAACCTCTGCCTCCCGGGTTCAAGTGATTTTCCTGCTTCAGCCTCCCAAGTAGCTGGGACTACGGGCACATGCCACCACACTCGGTTAATTTTTGTATTTTTAGTAGAAACGGGGTTTCACCATATTAGTCAGGCTGGTCTCAAACTACTGACCTCGTGATCCCCCCGTCTTGGCTTCCCAAAGTGCTAGGATTACAGATGTGAGCCACCTCACCTGGCGCTTTTTTTTTTTTTTTTTTTTTGAGATGGAGTTTCACTCTCGTTGCCCAAGTTGGAGTGCAATGGCGAGATCTCGGCTCACTGCAACCTCCGCCTCCCGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCAAGTAGCTGAGATTACAGGCTCGTGCCACCATGCCCGCCTAATTTTTTGTATTTTTAGTAGAAACAGGGCTTCACCATGTTAGCCAAGCTGGTCTCGAACTCCTGACCTCAGGTGATCTGCCCGCCTCGGCCTCTCAAACTGTTGGGATTACGGGCGTGAGCCACCGCGCCCGGCCACGTTTTTTTTTTCTTAAAAAGAGCTCTCCAAATTATACAACTTCTGGTCCCACAAAACCTGGAACTGCCCCTGGCTTTTCACTATTCCTGCTAGTCGGGAGGGCCACACACCCGCAGGGACTAGCTTGCAGTCCTGGGTCTCTTGCCTGCCTGGGAGAATGCCAGGGAAAGGTCCCTGCCTCCCACCCTCCCAGGCCCAGCCCCCACCCTGTCTCTCACGTGGTGATCTGAGACTCCAGGAATATGAGGATGAAGACCAGCAGAGCAGGCAGGGCGGAGGCAAACATCATCCAGATGGGAAACTCGGAACGCAAGCCCAGTGGGTGGATGACCCAGCCCCGGGCTGAGGAGTTGGACACCTTGAAGCCATCAGGCACCGAGAGTTTCTGTGGGAGGGGGTAGCAGGTAAGAATGCCAAGGGCAGGAGGATGGGGAAGGGTGGGAGCAGGAGGAGCCAGGGTCCTAGGGGTCGGGCAGTTAGGTTGGAGGCACTTGGGAACTTACTTATATTGAGCACTTGCTCTGTACCTAATCATTACACTAATCCCTTTACATCCATCTGCTCGTTCCCCACTTTAAAGATGAGGAAAGAGAATCAGAGAGGTTATGTAGCTTGCCCCACATCACACAGCTATTTGATGGCAGAGCTGGGATTCATGCCTAGATCTGCCTGGCTCCAAAGAATACTTCTTCCTACTGCTCTGGGTTAAGGAATGAAGGTGGCAACCTGGCCCAGCACCTTGCTTTGGCCACAGGGGTCCTCTGGGGCTGTGAGAAGCACATGGGACTCCCAGAGGAGGCAGGGATGGGGTAGAGGTAGTCCCAGCTGGCTTCAGGTTGGGGAAAGCTATTCTAGGGAAGGGGCATGCTGGGGGGTGGAAATGAGGACCTGGGGGGTATCATGGTCTGAGGGCTGGGAGGAGGGGTCACCTGGGTGTAGGTATCCTGAATGAAGAAATCCACCAGGACCATGATCAGGATGGAGATGGGGACCCCGAAGTCCCCGATGACCCGACGCAGCTGGGGGCAGGTGAAAGGACCAGTGGTCAGTGCCCAGTCACTCCCCACCTCCTGCCTTCCTCCTGCCCTATATTCACCCACGGGGCCCTGCTCTTCCAGGGGATCCATCAGCATCTAATGCCCTGTCCTGCACCTCAGCTATGTCTGCCTCCTTTCTTCTTCCCCCAGCAGTTCTCAGGCTGGGCATGCCATGAAAGTGGGAGGGGCTTGCCCATAGAGTGAAACCCTAGGTAAGGATAGGGCCAGGGGAGGTTGGAATTGGGAATGGGAATCTGAAAAAGAAGGGAAGCTAAGGGCACTGAGGAATTTGGAGCGGGGGGGCTTTGGGCTGGGATAGGGCAGTGTTGGCAAGGACAGGCGAGGAGGGTATGCTGACCTTGCCAGGGAAATAGGAGCTGTTCTTGAACTTGCGCAGCATCATGGCAAAGAAGAAGGTACCGGCCATGAGCACAAGGGAGAGGAGGGCTGTGTTGGGCAGGGGGCCCTGAGGTTTGGGCACCATCAACACGTTGTAGTTATAAGTCTTCTGTAGTGGGTGGTCCTGGAAGATCTGCAGCAGAAAACCAAGGCATTCTGTTCTCTCCCAGCTTTGGCTTGGGCTGGAAAATACCACCAGCTAACTCTACCCAGCACTACTATCCATTCATCCAGTCATCTATTAATTCATCATCCATCCATTTATCCACCCATCCATCATTCATCTATCCATTATCCATTGATCATCCATTGATTATTCATCCATCCATTCATTATCCATCTACCCATCCATCCACCTACCTATCATCTATCAACCCATTTATCCATCCATTCATCCGTCCATCATCCACCCACTCATTCATCAATCATCCATCCATCCAACCATCCATCCATCCATCCATCCGTCCATCCATTATCCATCTATTCATCCATCCATCCATCTATCTTCTTCCTCAATTGACATGGAAACAGAGGATAAATGGGATTCTACAGCTTGGTTTTCAGGAATGAAGACAGCCTAGGTTTAGGCAGGGAGGGCCATGGAAGGCAATGGGTGTGTGTGCGAGCACACATGTACACCCAGGACCTGGGAGACATGAGAAGGCTGGAGGTCAGGAAACAAGGGTCAGGGAAGTTTCTAACAAGGGGTTAAAAGACCTGGACACAGAAAGACCCTCCATCCAACAGAATCAGGGGACAACACATAGGGCTCACCCTTCTCCCATATAAAATGCAGGTACAAAGGCAAGCAGAGCTTAAGATGATGGGAGCCAAGCCAAGGTGGCTGGGCACTCCATCCACAAGCCCTGCAGCTCTTGAGGACAAGCACAGGGGAGGGAGTGGGGGACTTCAGAGGCTCCAGAGTCCCCCCAGCTCTCACTGTGCATGTACTTTCACATGCTCAGTGTCATGCCCATACCTACCCATTGCTCACGTCATGTGTGGTCATGAACTGGACATGTGCACACAGAGGCACCCTCTCATGCCTCAGCAAGAGTGCTGGCCACAGGCAGCAGGTGCCAACACATATGTGGTCACAGTCAACACAGCTGCACAGTCCTGTGTGCAGATGTGTGACTACACAGACATAGACACATATGTTGACACAGACACATATGTTGTCACAGTCATGTGCACAGTCACATGGTTATGTACACAGGTGAAAGCAAAGACACACAAATGCTGCACAGACACATGTGCGAGGACACAATGGCTCAGTCTTTTTTTTTTTTTTTTGAGACGGATTCTTGCTCTGTTGCCCAGGCTGGAGTGTAGTGGCACAATCTCGGCTCACTGCAACCTCCACCTCCCGGGTTCAAGCAGTTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGATGCATGCCACCACATCTGGCTGATTTTTGTATTTTTAATAGAGATGGAGTTTCACAATGTTGGTCAGGCTGGTCTTGAACTCCTGATCTCGGGTGATCCACCTGCCTCGGCCTCCCAAAGTTCTGAGATTACAGGCCTGAGCCCTCGCACCCGGCCACTGTCTCAGTCTTATACACAACCTCCCGTGTGCATTAACATCCCCATAGGCCCCCACCTTGATCAGCTTGGAGAAAGTCTCATAGATGAAGATGAGGGAAATGAGGAAGGAGAAGATCTCCTGGGTATAGCGGGAGATGAAGCGGACCAGGAAGCTACCCTCGAAGGCCACCACCAACACCACCAGCAGGATGAGCCAGAAGCCGATCCACACGCGGCCCACGATGTACTCTAGACCGTTGGTCTCGCAGAACTGCAGGGTGGTCAGAAGAAGCCGGTCAGTCAAAGGGTCTTGGGGCAAGGCACCATGCATCAGGCAGGTGGTGCGGGGGACATGACAGGGTCAGTGGGGCAAGGACAGAACTACCGAGAAGAAGGCTTCCTCAAACACCAGCAGGGGTCCTGAGAAGCCGACCACAAGCAGGGGCTGAGCCCCCAGCAGGGCGAAGAGAATGCCCTGCAC
CATTTTGCATTTTTTTTTCTTTTTCTTTTTTTTCCTAGAGTCTTGCTCTGTCGCCCAGGCTGGAGTGCAGTGGTGCGATTTTGGCTCACTGCAACCTCTGCCTCCCGGGTTCAAGTGATTTTCCTGCTTCAGCCTCCCAAGTAGCTGGGACTACGGGCACATGCCACCACACTCGGTTAATTTTTGTATTTTTAGTAGAAACGGGGTTTCACCATATTAGTCAGGCTGGTCTCAAACTACTGACCTCGTGATCCCCCCGTCTTGGCTTCCCAAAGTGCTAGGATTACAGATGTGAGCCACCTCACCTGGCGCTTTTTTTTTTTTTTTTTTTTTGAGATGGAGTTTCACTCTCGTTGCCCAAGTTGGAGTGCAATGGCGAGATCTCGGCTCACTGCAACCTCCGCCTCCCGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCAAGTAGCTGAGATTACAGGCTCGTGCCACCATGCCCGCCTAATTTTTTGTATTTTTAGTAGAAACAGGGCTTCACCATGTTAGCCAAGCTGGTCTCGAACTCCTGACCTCAGGTGATCTGCCCGCCTCGGCCTCTCAAACTGTTGGGATTACGGGCGTGAGCCACCGCGCCCGGCCACGTTTTTTTTTTCTTAAAAAGAGCTCTCCAAATTATACAACTTCTGGTCCCACAAAACCTGGAACTGCCCCTGGCTTTTCACTATTCCTGCTAGTCGGGAGGGCCACACACCCGCAGGGACTAGCTTGCAGTCCTGGGTCTCTTGCCTGCCTGGGAGAATGCCAGGGAAAGGTCCCTGCCTCCCACCCTCCCAGGCCCAGCCCCCACCCTGTCTCTCACGTGGTGATCTGAGACTCCAGGAATATGAGGATGAAGACCAGCAGAGCAGGCAGGGCGGAGGCAAACATCATCCAGATGGGAAACTCGGAACGCAAGCCCAGTGGGTGGATGACCCAGCCCCGGGCTGAGGAGTTGGACACCTTGAAGCCATCAGGCACCGAGAGTTTCTGTGGGAGGGGGTAGCAGGTAAGAATGCCAAGGGCAGGAGGATGGGGAAGGGTGGGAGCAGGAGGAGCCAGGGTCCTAGGGGTCGGGCAGTTAGGTTGGAGGCACTTGGGAACTTACTTATATTGAGCACTTGCTCTGTACCTAATCATTACACTAATCCCTTTACATCCATCTGCTCGTTCCCCACTTTAAAGATGAGGAAAGAGAATCAGAGAGGTTATGTAGCTTGCCCCACATCACACAGCTATTTGATGGCAGAGCTGGGATTCATGCCTAGATCTGCCTGGCTCCAAAGAATACTTCTTCCTACTGCTCTGGGTTAAGGAATGAAGGTGGCAACCTGGCCCAGCACCTTGCTTTGGCCACAGGGGTCCTCTGGGGCTGTGAGAAGCACATGGGACTCCCAGAGGAGGCAGGGATGGGGTAGAGGTAGTCCCAGCTGGCTTCAGGTTGGGGAAAGCTATTCTAGGGAAGGGGCATGCTGGGGGGTGGAAATGAGGACCTGGGGGGTATCATGGTCTGAGGGCTGGGAGGAGGGGTCACCTGGGTGTAGGTATCCTGAATGAAGAAATCCACCAGGACCATGATCAGGATGGAGATGGGGACCCCGAAGTCCCCGATGACCCGACGCAGCTGGGGGCAGGTGAAAGGACCAGTGGTCAGTGCCCAGTCACTCCCCACCTCCTGCCTTCCTCCTGCCCTATATTCACCCACGGGGCCCTGCTCTTCCAGGGGATCCATCAGCATCTAATGCCCTGTCCTGCACCTCAGCTATGTCTGCCTCCTTTCTTCTTCCCCCAGCAGTTCTCAGGCTGGGCATGCCATGAAAGTGGGAGGGGCTTGCCCATAGAGTGAAACCCTAGGTAAGGATAGGGCCAGGGGAGGTTGGAATTGGGAATGGGAATCTGAAAAAGAAGGGAAGCTAAGGGCACTGAGGAATTTGGAGCGGGGGGGCTTTGGGCTGGGATAGGGCAGTGTTGGCAAGGACAGGCGAGGAGGGTATGCTGACCTTGCCAGGGAAATAGGAGCTGTTCTTGAACTTGTGCAGCATCATGGCAAAGAAGAAGGTACCGGCCATGAGCACAAGGGAGAGGAGGGCTGTGTTGGGCAGGGGGCCCTGAGGTTTGGGCACCATCAACACGTTGTAGTTATAAGTCTTCTGTAGTGGGTGGTCCTGGAAGATCTGCAGCAGAAAACCAAGGCATTCTGTTCTCTCCCAGCTTTGGCTTGGGCTGGAAAATACCACCAGCTAACTCTACCCAGCACTACTATCCATTCATCCAGTCATCTATTAATTCATCATCCATCCATTTATCCACCCATCCATCATTCATCTATCCATTATCCATTGATCATCCATTGATTATTCATCCATCCATTCATTATCCATCTACCCATCCATCCACCTACCTATCATCTATCAACCCATTTATCCATCCATTCATCCGTCCATCATCCACCCACTCATTCATCAATCATCCATCCATCCAACCATCCATCCATCCATCCATCCGTCCATCCATTATCCATCTATTCATCCATCCATCCATCTATCTTCTTCCTCAATTGACATGGAAACAGAGGATAAATGGGATTCTACAGCTTGGTTTTCAGGAATGAAGACAGCCTAGGTTTAGGCAGGGAGGGCCATGGAAGGCAATGGGTGTGTGTGCGAGCACACATGTACACCCAGGACCTGGGAGACATGAGAAGGCTGGAGGTCAGGAAACAAGGGTCAGGGAAGTTTCTAACAAGGGGTTAAAAGACCTGGACACAGAAAGACCCTCCATCCAACAGAATCAGGGGACAACACATAGGGCTCACCCTTCTCCCATATAAAATGCAGGTACAAAGGCAAGCAGAGCTTAAGATGATGGGAGCCAAGCCAAGGTGGCTGGGCACTCCATCCACAAGCCCTGCAGCTCTTGAGGACAAGCACAGGGGAGGGAGTGGGGGACTTCAGAGGCTCCAGAGTCCCCCCAGCTCTCACTGTGCATGTACTTTCACATGCTCAGTGTCATGCCCATACCTACCCATTGCTCACGTCATGTGTGGTCATGAACTGGACATGTGCACACAGAGGCACCCTCTCATGCCTCAGCAAGAGTGCTGGCCACAGGCAGCAGGTGCCAACACATATGTGGTCACAGTCAACACAGCTGCACAGTCCTGTGTGCAGATGTGTGACTACACAGACATAGACACATATGTTGACACAGACACATATGTTGTCACAGTCATGTGCACAGTCACATGGTTATGTACACAGGTGAAAGCAAAGACACACAAATGCTGCACAGACACATGTGCGAGGACACAATGGCTCAGTCTTTTTTTTTTTTTTTTGAGACGGATTCTTGCTCTGTTGCCCAGGCTGGAGTGTAGTGGCACAATCTCGGCTCACTGCAACCTCCACCTCCCGGGTTCAAGCAGTTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGATGCATGCCACCACATCTGGCTGATTTTTGTATTTTTAATAGAGATGGAGTTTCACAATGTTGGTCAGGCTGGTCTTGAACTCCTGATCTCGGGTGATCCACCTGCCTCGGCCTCCCAAAGTTCTGAGATTACAGGCCTGAGCCCTCGCACCCGGCCACTGTCTCAGTCTTATACACAACCTCCCGTGTGCATTAACATCCCCATAGGCCCCCACCTTGATCAGCTTGGAGAAAGTCTCATAGATGAAGATGAGGGAAATGAGGAAGGAGAAGATCTCCTGGGTATAGCGGGAGATGAAGCGGACCAGGAAGCTACCCTCGAAGGCCACCACCAACACCACCAGCAGGATGAGCCAGAAGCCGATCCACACGCGGCCCACGATGTACTCTAGACCGTTGGTCTCGCAGAACTGCAGGGTGGTCAGAAGAAGCCGGTCAGTCAAAGGGTCTTGGGGCAAGGCACCATGCATCAGGCAGGTGGTGCGGGGGACATGACAGGGTCAGTGGGGCAAGGACAGAACTACCGAGAAGAAGGCTTCCTCAAACACCAGCAGGGGTCCTGAGAAGCCGACCACAAGCAGGGGCTGAGCCCCCAGCAGGGCGAAGAGAATGCCCTGCAC
Task1_train_24701
This alteration occurs within gene SLC4A1 (solute carrier family 4 member 1 (Diego blood group)) located on Chromosome 17. Is it associated with a disease or is it a benign variant?
Pathogenic; Southeast Asian ovalocytosis
CATTTTGCATTTTTTTTTCTTTTTCTTTTTTTTCCTAGAGTCTTGCTCTGTCGCCCAGGCTGGAGTGCAGTGGTGCGATTTTGGCTCACTGCAACCTCTGCCTCCCGGGTTCAAGTGATTTTCCTGCTTCAGCCTCCCAAGTAGCTGGGACTACGGGCACATGCCACCACACTCGGTTAATTTTTGTATTTTTAGTAGAAACGGGGTTTCACCATATTAGTCAGGCTGGTCTCAAACTACTGACCTCGTGATCCCCCCGTCTTGGCTTCCCAAAGTGCTAGGATTACAGATGTGAGCCACCTCACCTGGCGCTTTTTTTTTTTTTTTTTTTTTGAGATGGAGTTTCACTCTCGTTGCCCAAGTTGGAGTGCAATGGCGAGATCTCGGCTCACTGCAACCTCCGCCTCCCGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCAAGTAGCTGAGATTACAGGCTCGTGCCACCATGCCCGCCTAATTTTTTGTATTTTTAGTAGAAACAGGGCTTCACCATGTTAGCCAAGCTGGTCTCGAACTCCTGACCTCAGGTGATCTGCCCGCCTCGGCCTCTCAAACTGTTGGGATTACGGGCGTGAGCCACCGCGCCCGGCCACGTTTTTTTTTTCTTAAAAAGAGCTCTCCAAATTATACAACTTCTGGTCCCACAAAACCTGGAACTGCCCCTGGCTTTTCACTATTCCTGCTAGTCGGGAGGGCCACACACCCGCAGGGACTAGCTTGCAGTCCTGGGTCTCTTGCCTGCCTGGGAGAATGCCAGGGAAAGGTCCCTGCCTCCCACCCTCCCAGGCCCAGCCCCCACCCTGTCTCTCACGTGGTGATCTGAGACTCCAGGAATATGAGGATGAAGACCAGCAGAGCAGGCAGGGCGGAGGCAAACATCATCCAGATGGGAAACTCGGAACGCAAGCCCAGTGGGTGGATGACCCAGCCCCGGGCTGAGGAGTTGGACACCTTGAAGCCATCAGGCACCGAGAGTTTCTGTGGGAGGGGGTAGCAGGTAAGAATGCCAAGGGCAGGAGGATGGGGAAGGGTGGGAGCAGGAGGAGCCAGGGTCCTAGGGGTCGGGCAGTTAGGTTGGAGGCACTTGGGAACTTACTTATATTGAGCACTTGCTCTGTACCTAATCATTACACTAATCCCTTTACATCCATCTGCTCGTTCCCCACTTTAAAGATGAGGAAAGAGAATCAGAGAGGTTATGTAGCTTGCCCCACATCACACAGCTATTTGATGGCAGAGCTGGGATTCATGCCTAGATCTGCCTGGCTCCAAAGAATACTTCTTCCTACTGCTCTGGGTTAAGGAATGAAGGTGGCAACCTGGCCCAGCACCTTGCTTTGGCCACAGGGGTCCTCTGGGGCTGTGAGAAGCACATGGGACTCCCAGAGGAGGCAGGGATGGGGTAGAGGTAGTCCCAGCTGGCTTCAGGTTGGGGAAAGCTATTCTAGGGAAGGGGCATGCTGGGGGGTGGAAATGAGGACCTGGGGGGTATCATGGTCTGAGGGCTGGGAGGAGGGGTCACCTGGGTGTAGGTATCCTGAATGAAGAAATCCACCAGGACCATGATCAGGATGGAGATGGGGACCCCGAAGTCCCCGATGACCCGACGCAGCTGGGGGCAGGTGAAAGGACCAGTGGTCAGTGCCCAGTCACTCCCCACCTCCTGCCTTCCTCCTGCCCTATATTCACCCACGGGGCCCTGCTCTTCCAGGGGATCCATCAGCATCTAATGCCCTGTCCTGCACCTCAGCTATGTCTGCCTCCTTTCTTCTTCCCCCAGCAGTTCTCAGGCTGGGCATGCCATGAAAGTGGGAGGGGCTTGCCCATAGAGTGAAACCCTAGGTAAGGATAGGGCCAGGGGAGGTTGGAATTGGGAATGGGAATCTGAAAAAGAAGGGAAGCTAAGGGCACTGAGGAATTTGGAGCGGGGGGGCTTTGGGCTGGGATAGGGCAGTGTTGGCAAGGACAGGCGAGGAGGGTATGCTGACCTTGCCAGGGAAATAGGAGCTGTTCTTGAACTTGCGCAGCATCATGGCAAAGAAGAAGGTACCGGCCATGAGCACAAGGGAGAGGAGGGCTGTGTTGGGCAGGGGGCCCTGAGGTTTGGGCACCATCAACACGTTGTAGTTATAAGTCTTCTGTAGTGGGTGGTCCTGGAAGATCTGCAGCAGAAAACCAAGGCATTCTGTTCTCTCCCAGCTTTGGCTTGGGCTGGAAAATACCACCAGCTAACTCTACCCAGCACTACTATCCATTCATCCAGTCATCTATTAATTCATCATCCATCCATTTATCCACCCATCCATCATTCATCTATCCATTATCCATTGATCATCCATTGATTATTCATCCATCCATTCATTATCCATCTACCCATCCATCCACCTACCTATCATCTATCAACCCATTTATCCATCCATTCATCCGTCCATCATCCACCCACTCATTCATCAATCATCCATCCATCCAACCATCCATCCATCCATCCATCCGTCCATCCATTATCCATCTATTCATCCATCCATCCATCTATCTTCTTCCTCAATTGACATGGAAACAGAGGATAAATGGGATTCTACAGCTTGGTTTTCAGGAATGAAGACAGCCTAGGTTTAGGCAGGGAGGGCCATGGAAGGCAATGGGTGTGTGTGCGAGCACACATGTACACCCAGGACCTGGGAGACATGAGAAGGCTGGAGGTCAGGAAACAAGGGTCAGGGAAGTTTCTAACAAGGGGTTAAAAGACCTGGACACAGAAAGACCCTCCATCCAACAGAATCAGGGGACAACACATAGGGCTCACCCTTCTCCCATATAAAATGCAGGTACAAAGGCAAGCAGAGCTTAAGATGATGGGAGCCAAGCCAAGGTGGCTGGGCACTCCATCCACAAGCCCTGCAGCTCTTGAGGACAAGCACAGGGGAGGGAGTGGGGGACTTCAGAGGCTCCAGAGTCCCCCCAGCTCTCACTGTGCATGTACTTTCACATGCTCAGTGTCATGCCCATACCTACCCATTGCTCACGTCATGTGTGGTCATGAACTGGACATGTGCACACAGAGGCACCCTCTCATGCCTCAGCAAGAGTGCTGGCCACAGGCAGCAGGTGCCAACACATATGTGGTCACAGTCAACACAGCTGCACAGTCCTGTGTGCAGATGTGTGACTACACAGACATAGACACATATGTTGACACAGACACATATGTTGTCACAGTCATGTGCACAGTCACATGGTTATGTACACAGGTGAAAGCAAAGACACACAAATGCTGCACAGACACATGTGCGAGGACACAATGGCTCAGTCTTTTTTTTTTTTTTTTGAGACGGATTCTTGCTCTGTTGCCCAGGCTGGAGTGTAGTGGCACAATCTCGGCTCACTGCAACCTCCACCTCCCGGGTTCAAGCAGTTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGATGCATGCCACCACATCTGGCTGATTTTTGTATTTTTAATAGAGATGGAGTTTCACAATGTTGGTCAGGCTGGTCTTGAACTCCTGATCTCGGGTGATCCACCTGCCTCGGCCTCCCAAAGTTCTGAGATTACAGGCCTGAGCCCTCGCACCCGGCCACTGTCTCAGTCTTATACACAACCTCCCGTGTGCATTAACATCCCCATAGGCCCCCACCTTGATCAGCTTGGAGAAAGTCTCATAGATGAAGATGAGGGAAATGAGGAAGGAGAAGATCTCCTGGGTATAGCGGGAGATGAAGCGGACCAGGAAGCTACCCTCGAAGGCCACCACCAACACCACCAGCAGGATGAGCCAGAAGCCGATCCACACGCGGCCCACGATGTACTCTAGACCGTTGGTCTCGCAGAACTGCAGGGTGGTCAGAAGAAGCCGGTCAGTCAAAGGGTCTTGGGGCAAGGCACCATGCATCAGGCAGGTGGTGCGGGGGACATGACAGGGTCAGTGGGGCAAGGACAGAACTACCGAGAAGAAGGCTTCCTCAAACACCAGCAGGGGTCCTGAGAAGCCGACCACAAGCAGGGGCTGAGCCCCCAGCAGGGCGAAGAGAATGCCCTGCAC
CATTTTGCATTTTTTTTTCTTTTTCTTTTTTTTCCTAGAGTCTTGCTCTGTCGCCCAGGCTGGAGTGCAGTGGTGCGATTTTGGCTCACTGCAACCTCTGCCTCCCGGGTTCAAGTGATTTTCCTGCTTCAGCCTCCCAAGTAGCTGGGACTACGGGCACATGCCACCACACTCGGTTAATTTTTGTATTTTTAGTAGAAACGGGGTTTCACCATATTAGTCAGGCTGGTCTCAAACTACTGACCTCGTGATCCCCCCGTCTTGGCTTCCCAAAGTGCTAGGATTACAGATGTGAGCCACCTCACCTGGCGCTTTTTTTTTTTTTTTTTTTTTGAGATGGAGTTTCACTCTCGTTGCCCAAGTTGGAGTGCAATGGCGAGATCTCGGCTCACTGCAACCTCCGCCTCCCGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCAAGTAGCTGAGATTACAGGCTCGTGCCACCATGCCCGCCTAATTTTTTGTATTTTTAGTAGAAACAGGGCTTCACCATGTTAGCCAAGCTGGTCTCGAACTCCTGACCTCAGGTGATCTGCCCGCCTCGGCCTCTCAAACTGTTGGGATTACGGGCGTGAGCCACCGCGCCCGGCCACGTTTTTTTTTTCTTAAAAAGAGCTCTCCAAATTATACAACTTCTGGTCCCACAAAACCTGGAACTGCCCCTGGCTTTTCACTATTCCTGCTAGTCGGGAGGGCCACACACCCGCAGGGACTAGCTTGCAGTCCTGGGTCTCTTGCCTGCCTGGGAGAATGCCAGGGAAAGGTCCCTGCCTCCCACCCTCCCAGGCCCAGCCCCCACCCTGTCTCTCACGTGGTGATCTGAGACTCCAGGAATATGAGGATGAAGACCAGCAGAGCAGGCAGGGCGGAGGCAAACATCATCCAGATGGGAAACTCGGAACGCAAGCCCAGTGGGTGGATGACCCAGCCCCGGGCTGAGGAGTTGGACACCTTGAAGCCATCAGGCACCGAGAGTTTCTGTGGGAGGGGGTAGCAGGTAAGAATGCCAAGGGCAGGAGGATGGGGAAGGGTGGGAGCAGGAGGAGCCAGGGTCCTAGGGGTCGGGCAGTTAGGTTGGAGGCACTTGGGAACTTACTTATATTGAGCACTTGCTCTGTACCTAATCATTACACTAATCCCTTTACATCCATCTGCTCGTTCCCCACTTTAAAGATGAGGAAAGAGAATCAGAGAGGTTATGTAGCTTGCCCCACATCACACAGCTATTTGATGGCAGAGCTGGGATTCATGCCTAGATCTGCCTGGCTCCAAAGAATACTTCTTCCTACTGCTCTGGGTTAAGGAATGAAGGTGGCAACCTGGCCCAGCACCTTGCTTTGGCCACAGGGGTCCTCTGGGGCTGTGAGAAGCACATGGGACTCCCAGAGGAGGCAGGGATGGGGTAGAGGTAGTCCCAGCTGGCTTCAGGTTGGGGAAAGCTATTCTAGGGAAGGGGCATGCTGGGGGGTGGAAATGAGGACCTGGGGGGTATCATGGTCTGAGGGCTGGGAGGAGGGGTCACCTGGGTGTAGGTATCCTGAATGAAGAAATCCACCAGGACCATGATCAGGATGGAGATGGGGACCCCGAAGTCCCCGATGACCCGACGCAGCTGGGGGCAGGTGAAAGGACCAGTGGTCAGTGCCCAGTCACTCCCCACCTCCTGCCTTCCTCCTGCCCTATATTCACCCACGGGGCCCTGCTCTTCCAGGGGATCCATCAGCATCTAATGCCCTGTCCTGCACCTCAGCTATGTCTGCCTCCTTTCTTCTTCCCCCAGCAGTTCTCAGGCTGGGCATGCCATGAAAGTGGGAGGGGCTTGCCCATAGAGTGAAACCCTAGGTAAGGATAGGGCCAGGGGAGGTTGGAATTGGGAATGGGAATCTGAAAAAGAAGGGAAGCTAAGGGCACTGAGGAATTTGGAGCGGGGGGGCTTTGGGCTGGGATAGGGCAGTGTTGGCAAGGACAGGCGAGGAGGGTATGCTGACCTTGCCAGGGAAATAGGAGCTGTTCTTGAACTTGTGCAGCATCATGGCAAAGAAGAAGGTACCGGCCATGAGCACAAGGGAGAGGAGGGCTGTGTTGGGCAGGGGGCCCTGAGGTTTGGGCACCATCAACACGTTGTAGTTATAAGTCTTCTGTAGTGGGTGGTCCTGGAAGATCTGCAGCAGAAAACCAAGGCATTCTGTTCTCTCCCAGCTTTGGCTTGGGCTGGAAAATACCACCAGCTAACTCTACCCAGCACTACTATCCATTCATCCAGTCATCTATTAATTCATCATCCATCCATTTATCCACCCATCCATCATTCATCTATCCATTATCCATTGATCATCCATTGATTATTCATCCATCCATTCATTATCCATCTACCCATCCATCCACCTACCTATCATCTATCAACCCATTTATCCATCCATTCATCCGTCCATCATCCACCCACTCATTCATCAATCATCCATCCATCCAACCATCCATCCATCCATCCATCCGTCCATCCATTATCCATCTATTCATCCATCCATCCATCTATCTTCTTCCTCAATTGACATGGAAACAGAGGATAAATGGGATTCTACAGCTTGGTTTTCAGGAATGAAGACAGCCTAGGTTTAGGCAGGGAGGGCCATGGAAGGCAATGGGTGTGTGTGCGAGCACACATGTACACCCAGGACCTGGGAGACATGAGAAGGCTGGAGGTCAGGAAACAAGGGTCAGGGAAGTTTCTAACAAGGGGTTAAAAGACCTGGACACAGAAAGACCCTCCATCCAACAGAATCAGGGGACAACACATAGGGCTCACCCTTCTCCCATATAAAATGCAGGTACAAAGGCAAGCAGAGCTTAAGATGATGGGAGCCAAGCCAAGGTGGCTGGGCACTCCATCCACAAGCCCTGCAGCTCTTGAGGACAAGCACAGGGGAGGGAGTGGGGGACTTCAGAGGCTCCAGAGTCCCCCCAGCTCTCACTGTGCATGTACTTTCACATGCTCAGTGTCATGCCCATACCTACCCATTGCTCACGTCATGTGTGGTCATGAACTGGACATGTGCACACAGAGGCACCCTCTCATGCCTCAGCAAGAGTGCTGGCCACAGGCAGCAGGTGCCAACACATATGTGGTCACAGTCAACACAGCTGCACAGTCCTGTGTGCAGATGTGTGACTACACAGACATAGACACATATGTTGACACAGACACATATGTTGTCACAGTCATGTGCACAGTCACATGGTTATGTACACAGGTGAAAGCAAAGACACACAAATGCTGCACAGACACATGTGCGAGGACACAATGGCTCAGTCTTTTTTTTTTTTTTTTGAGACGGATTCTTGCTCTGTTGCCCAGGCTGGAGTGTAGTGGCACAATCTCGGCTCACTGCAACCTCCACCTCCCGGGTTCAAGCAGTTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGATGCATGCCACCACATCTGGCTGATTTTTGTATTTTTAATAGAGATGGAGTTTCACAATGTTGGTCAGGCTGGTCTTGAACTCCTGATCTCGGGTGATCCACCTGCCTCGGCCTCCCAAAGTTCTGAGATTACAGGCCTGAGCCCTCGCACCCGGCCACTGTCTCAGTCTTATACACAACCTCCCGTGTGCATTAACATCCCCATAGGCCCCCACCTTGATCAGCTTGGAGAAAGTCTCATAGATGAAGATGAGGGAAATGAGGAAGGAGAAGATCTCCTGGGTATAGCGGGAGATGAAGCGGACCAGGAAGCTACCCTCGAAGGCCACCACCAACACCACCAGCAGGATGAGCCAGAAGCCGATCCACACGCGGCCCACGATGTACTCTAGACCGTTGGTCTCGCAGAACTGCAGGGTGGTCAGAAGAAGCCGGTCAGTCAAAGGGTCTTGGGGCAAGGCACCATGCATCAGGCAGGTGGTGCGGGGGACATGACAGGGTCAGTGGGGCAAGGACAGAACTACCGAGAAGAAGGCTTCCTCAAACACCAGCAGGGGTCCTGAGAAGCCGACCACAAGCAGGGGCTGAGCCCCCAGCAGGGCGAAGAGAATGCCCTGCAC
Task1_train_24702
Gene SLC4A1 (solute carrier family 4 member 1 (Diego blood group)), found on Chromosome 17, is impacted by this variant. What is the biological outcome — benign or pathogenic?
Pathogenic; BLOOD GROUP--SWANN SYSTEM
CATTTTGCATTTTTTTTTCTTTTTCTTTTTTTTCCTAGAGTCTTGCTCTGTCGCCCAGGCTGGAGTGCAGTGGTGCGATTTTGGCTCACTGCAACCTCTGCCTCCCGGGTTCAAGTGATTTTCCTGCTTCAGCCTCCCAAGTAGCTGGGACTACGGGCACATGCCACCACACTCGGTTAATTTTTGTATTTTTAGTAGAAACGGGGTTTCACCATATTAGTCAGGCTGGTCTCAAACTACTGACCTCGTGATCCCCCCGTCTTGGCTTCCCAAAGTGCTAGGATTACAGATGTGAGCCACCTCACCTGGCGCTTTTTTTTTTTTTTTTTTTTTGAGATGGAGTTTCACTCTCGTTGCCCAAGTTGGAGTGCAATGGCGAGATCTCGGCTCACTGCAACCTCCGCCTCCCGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCAAGTAGCTGAGATTACAGGCTCGTGCCACCATGCCCGCCTAATTTTTTGTATTTTTAGTAGAAACAGGGCTTCACCATGTTAGCCAAGCTGGTCTCGAACTCCTGACCTCAGGTGATCTGCCCGCCTCGGCCTCTCAAACTGTTGGGATTACGGGCGTGAGCCACCGCGCCCGGCCACGTTTTTTTTTTCTTAAAAAGAGCTCTCCAAATTATACAACTTCTGGTCCCACAAAACCTGGAACTGCCCCTGGCTTTTCACTATTCCTGCTAGTCGGGAGGGCCACACACCCGCAGGGACTAGCTTGCAGTCCTGGGTCTCTTGCCTGCCTGGGAGAATGCCAGGGAAAGGTCCCTGCCTCCCACCCTCCCAGGCCCAGCCCCCACCCTGTCTCTCACGTGGTGATCTGAGACTCCAGGAATATGAGGATGAAGACCAGCAGAGCAGGCAGGGCGGAGGCAAACATCATCCAGATGGGAAACTCGGAACGCAAGCCCAGTGGGTGGATGACCCAGCCCCGGGCTGAGGAGTTGGACACCTTGAAGCCATCAGGCACCGAGAGTTTCTGTGGGAGGGGGTAGCAGGTAAGAATGCCAAGGGCAGGAGGATGGGGAAGGGTGGGAGCAGGAGGAGCCAGGGTCCTAGGGGTCGGGCAGTTAGGTTGGAGGCACTTGGGAACTTACTTATATTGAGCACTTGCTCTGTACCTAATCATTACACTAATCCCTTTACATCCATCTGCTCGTTCCCCACTTTAAAGATGAGGAAAGAGAATCAGAGAGGTTATGTAGCTTGCCCCACATCACACAGCTATTTGATGGCAGAGCTGGGATTCATGCCTAGATCTGCCTGGCTCCAAAGAATACTTCTTCCTACTGCTCTGGGTTAAGGAATGAAGGTGGCAACCTGGCCCAGCACCTTGCTTTGGCCACAGGGGTCCTCTGGGGCTGTGAGAAGCACATGGGACTCCCAGAGGAGGCAGGGATGGGGTAGAGGTAGTCCCAGCTGGCTTCAGGTTGGGGAAAGCTATTCTAGGGAAGGGGCATGCTGGGGGGTGGAAATGAGGACCTGGGGGGTATCATGGTCTGAGGGCTGGGAGGAGGGGTCACCTGGGTGTAGGTATCCTGAATGAAGAAATCCACCAGGACCATGATCAGGATGGAGATGGGGACCCCGAAGTCCCCGATGACCCGACGCAGCTGGGGGCAGGTGAAAGGACCAGTGGTCAGTGCCCAGTCACTCCCCACCTCCTGCCTTCCTCCTGCCCTATATTCACCCACGGGGCCCTGCTCTTCCAGGGGATCCATCAGCATCTAATGCCCTGTCCTGCACCTCAGCTATGTCTGCCTCCTTTCTTCTTCCCCCAGCAGTTCTCAGGCTGGGCATGCCATGAAAGTGGGAGGGGCTTGCCCATAGAGTGAAACCCTAGGTAAGGATAGGGCCAGGGGAGGTTGGAATTGGGAATGGGAATCTGAAAAAGAAGGGAAGCTAAGGGCACTGAGGAATTTGGAGCGGGGGGGCTTTGGGCTGGGATAGGGCAGTGTTGGCAAGGACAGGCGAGGAGGGTATGCTGACCTTGCCAGGGAAATAGGAGCTGTTCTTGAACTTGCGCAGCATCATGGCAAAGAAGAAGGTACCGGCCATGAGCACAAGGGAGAGGAGGGCTGTGTTGGGCAGGGGGCCCTGAGGTTTGGGCACCATCAACACGTTGTAGTTATAAGTCTTCTGTAGTGGGTGGTCCTGGAAGATCTGCAGCAGAAAACCAAGGCATTCTGTTCTCTCCCAGCTTTGGCTTGGGCTGGAAAATACCACCAGCTAACTCTACCCAGCACTACTATCCATTCATCCAGTCATCTATTAATTCATCATCCATCCATTTATCCACCCATCCATCATTCATCTATCCATTATCCATTGATCATCCATTGATTATTCATCCATCCATTCATTATCCATCTACCCATCCATCCACCTACCTATCATCTATCAACCCATTTATCCATCCATTCATCCGTCCATCATCCACCCACTCATTCATCAATCATCCATCCATCCAACCATCCATCCATCCATCCATCCGTCCATCCATTATCCATCTATTCATCCATCCATCCATCTATCTTCTTCCTCAATTGACATGGAAACAGAGGATAAATGGGATTCTACAGCTTGGTTTTCAGGAATGAAGACAGCCTAGGTTTAGGCAGGGAGGGCCATGGAAGGCAATGGGTGTGTGTGCGAGCACACATGTACACCCAGGACCTGGGAGACATGAGAAGGCTGGAGGTCAGGAAACAAGGGTCAGGGAAGTTTCTAACAAGGGGTTAAAAGACCTGGACACAGAAAGACCCTCCATCCAACAGAATCAGGGGACAACACATAGGGCTCACCCTTCTCCCATATAAAATGCAGGTACAAAGGCAAGCAGAGCTTAAGATGATGGGAGCCAAGCCAAGGTGGCTGGGCACTCCATCCACAAGCCCTGCAGCTCTTGAGGACAAGCACAGGGGAGGGAGTGGGGGACTTCAGAGGCTCCAGAGTCCCCCCAGCTCTCACTGTGCATGTACTTTCACATGCTCAGTGTCATGCCCATACCTACCCATTGCTCACGTCATGTGTGGTCATGAACTGGACATGTGCACACAGAGGCACCCTCTCATGCCTCAGCAAGAGTGCTGGCCACAGGCAGCAGGTGCCAACACATATGTGGTCACAGTCAACACAGCTGCACAGTCCTGTGTGCAGATGTGTGACTACACAGACATAGACACATATGTTGACACAGACACATATGTTGTCACAGTCATGTGCACAGTCACATGGTTATGTACACAGGTGAAAGCAAAGACACACAAATGCTGCACAGACACATGTGCGAGGACACAATGGCTCAGTCTTTTTTTTTTTTTTTTGAGACGGATTCTTGCTCTGTTGCCCAGGCTGGAGTGTAGTGGCACAATCTCGGCTCACTGCAACCTCCACCTCCCGGGTTCAAGCAGTTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGATGCATGCCACCACATCTGGCTGATTTTTGTATTTTTAATAGAGATGGAGTTTCACAATGTTGGTCAGGCTGGTCTTGAACTCCTGATCTCGGGTGATCCACCTGCCTCGGCCTCCCAAAGTTCTGAGATTACAGGCCTGAGCCCTCGCACCCGGCCACTGTCTCAGTCTTATACACAACCTCCCGTGTGCATTAACATCCCCATAGGCCCCCACCTTGATCAGCTTGGAGAAAGTCTCATAGATGAAGATGAGGGAAATGAGGAAGGAGAAGATCTCCTGGGTATAGCGGGAGATGAAGCGGACCAGGAAGCTACCCTCGAAGGCCACCACCAACACCACCAGCAGGATGAGCCAGAAGCCGATCCACACGCGGCCCACGATGTACTCTAGACCGTTGGTCTCGCAGAACTGCAGGGTGGTCAGAAGAAGCCGGTCAGTCAAAGGGTCTTGGGGCAAGGCACCATGCATCAGGCAGGTGGTGCGGGGGACATGACAGGGTCAGTGGGGCAAGGACAGAACTACCGAGAAGAAGGCTTCCTCAAACACCAGCAGGGGTCCTGAGAAGCCGACCACAAGCAGGGGCTGAGCCCCCAGCAGGGCGAAGAGAATGCCCTGCAC
CATTTTGCATTTTTTTTTCTTTTTCTTTTTTTTCCTAGAGTCTTGCTCTGTCGCCCAGGCTGGAGTGCAGTGGTGCGATTTTGGCTCACTGCAACCTCTGCCTCCCGGGTTCAAGTGATTTTCCTGCTTCAGCCTCCCAAGTAGCTGGGACTACGGGCACATGCCACCACACTCGGTTAATTTTTGTATTTTTAGTAGAAACGGGGTTTCACCATATTAGTCAGGCTGGTCTCAAACTACTGACCTCGTGATCCCCCCGTCTTGGCTTCCCAAAGTGCTAGGATTACAGATGTGAGCCACCTCACCTGGCGCTTTTTTTTTTTTTTTTTTTTTGAGATGGAGTTTCACTCTCGTTGCCCAAGTTGGAGTGCAATGGCGAGATCTCGGCTCACTGCAACCTCCGCCTCCCGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCAAGTAGCTGAGATTACAGGCTCGTGCCACCATGCCCGCCTAATTTTTTGTATTTTTAGTAGAAACAGGGCTTCACCATGTTAGCCAAGCTGGTCTCGAACTCCTGACCTCAGGTGATCTGCCCGCCTCGGCCTCTCAAACTGTTGGGATTACGGGCGTGAGCCACCGCGCCCGGCCACGTTTTTTTTTTCTTAAAAAGAGCTCTCCAAATTATACAACTTCTGGTCCCACAAAACCTGGAACTGCCCCTGGCTTTTCACTATTCCTGCTAGTCGGGAGGGCCACACACCCGCAGGGACTAGCTTGCAGTCCTGGGTCTCTTGCCTGCCTGGGAGAATGCCAGGGAAAGGTCCCTGCCTCCCACCCTCCCAGGCCCAGCCCCCACCCTGTCTCTCACGTGGTGATCTGAGACTCCAGGAATATGAGGATGAAGACCAGCAGAGCAGGCAGGGCGGAGGCAAACATCATCCAGATGGGAAACTCGGAACGCAAGCCCAGTGGGTGGATGACCCAGCCCCGGGCTGAGGAGTTGGACACCTTGAAGCCATCAGGCACCGAGAGTTTCTGTGGGAGGGGGTAGCAGGTAAGAATGCCAAGGGCAGGAGGATGGGGAAGGGTGGGAGCAGGAGGAGCCAGGGTCCTAGGGGTCGGGCAGTTAGGTTGGAGGCACTTGGGAACTTACTTATATTGAGCACTTGCTCTGTACCTAATCATTACACTAATCCCTTTACATCCATCTGCTCGTTCCCCACTTTAAAGATGAGGAAAGAGAATCAGAGAGGTTATGTAGCTTGCCCCACATCACACAGCTATTTGATGGCAGAGCTGGGATTCATGCCTAGATCTGCCTGGCTCCAAAGAATACTTCTTCCTACTGCTCTGGGTTAAGGAATGAAGGTGGCAACCTGGCCCAGCACCTTGCTTTGGCCACAGGGGTCCTCTGGGGCTGTGAGAAGCACATGGGACTCCCAGAGGAGGCAGGGATGGGGTAGAGGTAGTCCCAGCTGGCTTCAGGTTGGGGAAAGCTATTCTAGGGAAGGGGCATGCTGGGGGGTGGAAATGAGGACCTGGGGGGTATCATGGTCTGAGGGCTGGGAGGAGGGGTCACCTGGGTGTAGGTATCCTGAATGAAGAAATCCACCAGGACCATGATCAGGATGGAGATGGGGACCCCGAAGTCCCCGATGACCCGACGCAGCTGGGGGCAGGTGAAAGGACCAGTGGTCAGTGCCCAGTCACTCCCCACCTCCTGCCTTCCTCCTGCCCTATATTCACCCACGGGGCCCTGCTCTTCCAGGGGATCCATCAGCATCTAATGCCCTGTCCTGCACCTCAGCTATGTCTGCCTCCTTTCTTCTTCCCCCAGCAGTTCTCAGGCTGGGCATGCCATGAAAGTGGGAGGGGCTTGCCCATAGAGTGAAACCCTAGGTAAGGATAGGGCCAGGGGAGGTTGGAATTGGGAATGGGAATCTGAAAAAGAAGGGAAGCTAAGGGCACTGAGGAATTTGGAGCGGGGGGGCTTTGGGCTGGGATAGGGCAGTGTTGGCAAGGACAGGCGAGGAGGGTATGCTGACCTTGCCAGGGAAATAGGAGCTGTTCTTGAACTTGTGCAGCATCATGGCAAAGAAGAAGGTACCGGCCATGAGCACAAGGGAGAGGAGGGCTGTGTTGGGCAGGGGGCCCTGAGGTTTGGGCACCATCAACACGTTGTAGTTATAAGTCTTCTGTAGTGGGTGGTCCTGGAAGATCTGCAGCAGAAAACCAAGGCATTCTGTTCTCTCCCAGCTTTGGCTTGGGCTGGAAAATACCACCAGCTAACTCTACCCAGCACTACTATCCATTCATCCAGTCATCTATTAATTCATCATCCATCCATTTATCCACCCATCCATCATTCATCTATCCATTATCCATTGATCATCCATTGATTATTCATCCATCCATTCATTATCCATCTACCCATCCATCCACCTACCTATCATCTATCAACCCATTTATCCATCCATTCATCCGTCCATCATCCACCCACTCATTCATCAATCATCCATCCATCCAACCATCCATCCATCCATCCATCCGTCCATCCATTATCCATCTATTCATCCATCCATCCATCTATCTTCTTCCTCAATTGACATGGAAACAGAGGATAAATGGGATTCTACAGCTTGGTTTTCAGGAATGAAGACAGCCTAGGTTTAGGCAGGGAGGGCCATGGAAGGCAATGGGTGTGTGTGCGAGCACACATGTACACCCAGGACCTGGGAGACATGAGAAGGCTGGAGGTCAGGAAACAAGGGTCAGGGAAGTTTCTAACAAGGGGTTAAAAGACCTGGACACAGAAAGACCCTCCATCCAACAGAATCAGGGGACAACACATAGGGCTCACCCTTCTCCCATATAAAATGCAGGTACAAAGGCAAGCAGAGCTTAAGATGATGGGAGCCAAGCCAAGGTGGCTGGGCACTCCATCCACAAGCCCTGCAGCTCTTGAGGACAAGCACAGGGGAGGGAGTGGGGGACTTCAGAGGCTCCAGAGTCCCCCCAGCTCTCACTGTGCATGTACTTTCACATGCTCAGTGTCATGCCCATACCTACCCATTGCTCACGTCATGTGTGGTCATGAACTGGACATGTGCACACAGAGGCACCCTCTCATGCCTCAGCAAGAGTGCTGGCCACAGGCAGCAGGTGCCAACACATATGTGGTCACAGTCAACACAGCTGCACAGTCCTGTGTGCAGATGTGTGACTACACAGACATAGACACATATGTTGACACAGACACATATGTTGTCACAGTCATGTGCACAGTCACATGGTTATGTACACAGGTGAAAGCAAAGACACACAAATGCTGCACAGACACATGTGCGAGGACACAATGGCTCAGTCTTTTTTTTTTTTTTTTGAGACGGATTCTTGCTCTGTTGCCCAGGCTGGAGTGTAGTGGCACAATCTCGGCTCACTGCAACCTCCACCTCCCGGGTTCAAGCAGTTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGATGCATGCCACCACATCTGGCTGATTTTTGTATTTTTAATAGAGATGGAGTTTCACAATGTTGGTCAGGCTGGTCTTGAACTCCTGATCTCGGGTGATCCACCTGCCTCGGCCTCCCAAAGTTCTGAGATTACAGGCCTGAGCCCTCGCACCCGGCCACTGTCTCAGTCTTATACACAACCTCCCGTGTGCATTAACATCCCCATAGGCCCCCACCTTGATCAGCTTGGAGAAAGTCTCATAGATGAAGATGAGGGAAATGAGGAAGGAGAAGATCTCCTGGGTATAGCGGGAGATGAAGCGGACCAGGAAGCTACCCTCGAAGGCCACCACCAACACCACCAGCAGGATGAGCCAGAAGCCGATCCACACGCGGCCCACGATGTACTCTAGACCGTTGGTCTCGCAGAACTGCAGGGTGGTCAGAAGAAGCCGGTCAGTCAAAGGGTCTTGGGGCAAGGCACCATGCATCAGGCAGGTGGTGCGGGGGACATGACAGGGTCAGTGGGGCAAGGACAGAACTACCGAGAAGAAGGCTTCCTCAAACACCAGCAGGGGTCCTGAGAAGCCGACCACAAGCAGGGGCTGAGCCCCCAGCAGGGCGAAGAGAATGCCCTGCAC
Task1_train_24703
Given this variant in gene SLC4A1 (solute carrier family 4 member 1 (Diego blood group)) on Chromosome 17, classify it as benign or pathogenic. Include the disorder it may cause if applicable.
Pathogenic; BLOOD GROUP--WALDNER TYPE
CATTTTGCATTTTTTTTTCTTTTTCTTTTTTTTCCTAGAGTCTTGCTCTGTCGCCCAGGCTGGAGTGCAGTGGTGCGATTTTGGCTCACTGCAACCTCTGCCTCCCGGGTTCAAGTGATTTTCCTGCTTCAGCCTCCCAAGTAGCTGGGACTACGGGCACATGCCACCACACTCGGTTAATTTTTGTATTTTTAGTAGAAACGGGGTTTCACCATATTAGTCAGGCTGGTCTCAAACTACTGACCTCGTGATCCCCCCGTCTTGGCTTCCCAAAGTGCTAGGATTACAGATGTGAGCCACCTCACCTGGCGCTTTTTTTTTTTTTTTTTTTTTGAGATGGAGTTTCACTCTCGTTGCCCAAGTTGGAGTGCAATGGCGAGATCTCGGCTCACTGCAACCTCCGCCTCCCGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCAAGTAGCTGAGATTACAGGCTCGTGCCACCATGCCCGCCTAATTTTTTGTATTTTTAGTAGAAACAGGGCTTCACCATGTTAGCCAAGCTGGTCTCGAACTCCTGACCTCAGGTGATCTGCCCGCCTCGGCCTCTCAAACTGTTGGGATTACGGGCGTGAGCCACCGCGCCCGGCCACGTTTTTTTTTTCTTAAAAAGAGCTCTCCAAATTATACAACTTCTGGTCCCACAAAACCTGGAACTGCCCCTGGCTTTTCACTATTCCTGCTAGTCGGGAGGGCCACACACCCGCAGGGACTAGCTTGCAGTCCTGGGTCTCTTGCCTGCCTGGGAGAATGCCAGGGAAAGGTCCCTGCCTCCCACCCTCCCAGGCCCAGCCCCCACCCTGTCTCTCACGTGGTGATCTGAGACTCCAGGAATATGAGGATGAAGACCAGCAGAGCAGGCAGGGCGGAGGCAAACATCATCCAGATGGGAAACTCGGAACGCAAGCCCAGTGGGTGGATGACCCAGCCCCGGGCTGAGGAGTTGGACACCTTGAAGCCATCAGGCACCGAGAGTTTCTGTGGGAGGGGGTAGCAGGTAAGAATGCCAAGGGCAGGAGGATGGGGAAGGGTGGGAGCAGGAGGAGCCAGGGTCCTAGGGGTCGGGCAGTTAGGTTGGAGGCACTTGGGAACTTACTTATATTGAGCACTTGCTCTGTACCTAATCATTACACTAATCCCTTTACATCCATCTGCTCGTTCCCCACTTTAAAGATGAGGAAAGAGAATCAGAGAGGTTATGTAGCTTGCCCCACATCACACAGCTATTTGATGGCAGAGCTGGGATTCATGCCTAGATCTGCCTGGCTCCAAAGAATACTTCTTCCTACTGCTCTGGGTTAAGGAATGAAGGTGGCAACCTGGCCCAGCACCTTGCTTTGGCCACAGGGGTCCTCTGGGGCTGTGAGAAGCACATGGGACTCCCAGAGGAGGCAGGGATGGGGTAGAGGTAGTCCCAGCTGGCTTCAGGTTGGGGAAAGCTATTCTAGGGAAGGGGCATGCTGGGGGGTGGAAATGAGGACCTGGGGGGTATCATGGTCTGAGGGCTGGGAGGAGGGGTCACCTGGGTGTAGGTATCCTGAATGAAGAAATCCACCAGGACCATGATCAGGATGGAGATGGGGACCCCGAAGTCCCCGATGACCCGACGCAGCTGGGGGCAGGTGAAAGGACCAGTGGTCAGTGCCCAGTCACTCCCCACCTCCTGCCTTCCTCCTGCCCTATATTCACCCACGGGGCCCTGCTCTTCCAGGGGATCCATCAGCATCTAATGCCCTGTCCTGCACCTCAGCTATGTCTGCCTCCTTTCTTCTTCCCCCAGCAGTTCTCAGGCTGGGCATGCCATGAAAGTGGGAGGGGCTTGCCCATAGAGTGAAACCCTAGGTAAGGATAGGGCCAGGGGAGGTTGGAATTGGGAATGGGAATCTGAAAAAGAAGGGAAGCTAAGGGCACTGAGGAATTTGGAGCGGGGGGGCTTTGGGCTGGGATAGGGCAGTGTTGGCAAGGACAGGCGAGGAGGGTATGCTGACCTTGCCAGGGAAATAGGAGCTGTTCTTGAACTTGCGCAGCATCATGGCAAAGAAGAAGGTACCGGCCATGAGCACAAGGGAGAGGAGGGCTGTGTTGGGCAGGGGGCCCTGAGGTTTGGGCACCATCAACACGTTGTAGTTATAAGTCTTCTGTAGTGGGTGGTCCTGGAAGATCTGCAGCAGAAAACCAAGGCATTCTGTTCTCTCCCAGCTTTGGCTTGGGCTGGAAAATACCACCAGCTAACTCTACCCAGCACTACTATCCATTCATCCAGTCATCTATTAATTCATCATCCATCCATTTATCCACCCATCCATCATTCATCTATCCATTATCCATTGATCATCCATTGATTATTCATCCATCCATTCATTATCCATCTACCCATCCATCCACCTACCTATCATCTATCAACCCATTTATCCATCCATTCATCCGTCCATCATCCACCCACTCATTCATCAATCATCCATCCATCCAACCATCCATCCATCCATCCATCCGTCCATCCATTATCCATCTATTCATCCATCCATCCATCTATCTTCTTCCTCAATTGACATGGAAACAGAGGATAAATGGGATTCTACAGCTTGGTTTTCAGGAATGAAGACAGCCTAGGTTTAGGCAGGGAGGGCCATGGAAGGCAATGGGTGTGTGTGCGAGCACACATGTACACCCAGGACCTGGGAGACATGAGAAGGCTGGAGGTCAGGAAACAAGGGTCAGGGAAGTTTCTAACAAGGGGTTAAAAGACCTGGACACAGAAAGACCCTCCATCCAACAGAATCAGGGGACAACACATAGGGCTCACCCTTCTCCCATATAAAATGCAGGTACAAAGGCAAGCAGAGCTTAAGATGATGGGAGCCAAGCCAAGGTGGCTGGGCACTCCATCCACAAGCCCTGCAGCTCTTGAGGACAAGCACAGGGGAGGGAGTGGGGGACTTCAGAGGCTCCAGAGTCCCCCCAGCTCTCACTGTGCATGTACTTTCACATGCTCAGTGTCATGCCCATACCTACCCATTGCTCACGTCATGTGTGGTCATGAACTGGACATGTGCACACAGAGGCACCCTCTCATGCCTCAGCAAGAGTGCTGGCCACAGGCAGCAGGTGCCAACACATATGTGGTCACAGTCAACACAGCTGCACAGTCCTGTGTGCAGATGTGTGACTACACAGACATAGACACATATGTTGACACAGACACATATGTTGTCACAGTCATGTGCACAGTCACATGGTTATGTACACAGGTGAAAGCAAAGACACACAAATGCTGCACAGACACATGTGCGAGGACACAATGGCTCAGTCTTTTTTTTTTTTTTTTGAGACGGATTCTTGCTCTGTTGCCCAGGCTGGAGTGTAGTGGCACAATCTCGGCTCACTGCAACCTCCACCTCCCGGGTTCAAGCAGTTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGATGCATGCCACCACATCTGGCTGATTTTTGTATTTTTAATAGAGATGGAGTTTCACAATGTTGGTCAGGCTGGTCTTGAACTCCTGATCTCGGGTGATCCACCTGCCTCGGCCTCCCAAAGTTCTGAGATTACAGGCCTGAGCCCTCGCACCCGGCCACTGTCTCAGTCTTATACACAACCTCCCGTGTGCATTAACATCCCCATAGGCCCCCACCTTGATCAGCTTGGAGAAAGTCTCATAGATGAAGATGAGGGAAATGAGGAAGGAGAAGATCTCCTGGGTATAGCGGGAGATGAAGCGGACCAGGAAGCTACCCTCGAAGGCCACCACCAACACCACCAGCAGGATGAGCCAGAAGCCGATCCACACGCGGCCCACGATGTACTCTAGACCGTTGGTCTCGCAGAACTGCAGGGTGGTCAGAAGAAGCCGGTCAGTCAAAGGGTCTTGGGGCAAGGCACCATGCATCAGGCAGGTGGTGCGGGGGACATGACAGGGTCAGTGGGGCAAGGACAGAACTACCGAGAAGAAGGCTTCCTCAAACACCAGCAGGGGTCCTGAGAAGCCGACCACAAGCAGGGGCTGAGCCCCCAGCAGGGCGAAGAGAATGCCCTGCAC
CATTTTGCATTTTTTTTTCTTTTTCTTTTTTTTCCTAGAGTCTTGCTCTGTCGCCCAGGCTGGAGTGCAGTGGTGCGATTTTGGCTCACTGCAACCTCTGCCTCCCGGGTTCAAGTGATTTTCCTGCTTCAGCCTCCCAAGTAGCTGGGACTACGGGCACATGCCACCACACTCGGTTAATTTTTGTATTTTTAGTAGAAACGGGGTTTCACCATATTAGTCAGGCTGGTCTCAAACTACTGACCTCGTGATCCCCCCGTCTTGGCTTCCCAAAGTGCTAGGATTACAGATGTGAGCCACCTCACCTGGCGCTTTTTTTTTTTTTTTTTTTTTGAGATGGAGTTTCACTCTCGTTGCCCAAGTTGGAGTGCAATGGCGAGATCTCGGCTCACTGCAACCTCCGCCTCCCGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCAAGTAGCTGAGATTACAGGCTCGTGCCACCATGCCCGCCTAATTTTTTGTATTTTTAGTAGAAACAGGGCTTCACCATGTTAGCCAAGCTGGTCTCGAACTCCTGACCTCAGGTGATCTGCCCGCCTCGGCCTCTCAAACTGTTGGGATTACGGGCGTGAGCCACCGCGCCCGGCCACGTTTTTTTTTTCTTAAAAAGAGCTCTCCAAATTATACAACTTCTGGTCCCACAAAACCTGGAACTGCCCCTGGCTTTTCACTATTCCTGCTAGTCGGGAGGGCCACACACCCGCAGGGACTAGCTTGCAGTCCTGGGTCTCTTGCCTGCCTGGGAGAATGCCAGGGAAAGGTCCCTGCCTCCCACCCTCCCAGGCCCAGCCCCCACCCTGTCTCTCACGTGGTGATCTGAGACTCCAGGAATATGAGGATGAAGACCAGCAGAGCAGGCAGGGCGGAGGCAAACATCATCCAGATGGGAAACTCGGAACGCAAGCCCAGTGGGTGGATGACCCAGCCCCGGGCTGAGGAGTTGGACACCTTGAAGCCATCAGGCACCGAGAGTTTCTGTGGGAGGGGGTAGCAGGTAAGAATGCCAAGGGCAGGAGGATGGGGAAGGGTGGGAGCAGGAGGAGCCAGGGTCCTAGGGGTCGGGCAGTTAGGTTGGAGGCACTTGGGAACTTACTTATATTGAGCACTTGCTCTGTACCTAATCATTACACTAATCCCTTTACATCCATCTGCTCGTTCCCCACTTTAAAGATGAGGAAAGAGAATCAGAGAGGTTATGTAGCTTGCCCCACATCACACAGCTATTTGATGGCAGAGCTGGGATTCATGCCTAGATCTGCCTGGCTCCAAAGAATACTTCTTCCTACTGCTCTGGGTTAAGGAATGAAGGTGGCAACCTGGCCCAGCACCTTGCTTTGGCCACAGGGGTCCTCTGGGGCTGTGAGAAGCACATGGGACTCCCAGAGGAGGCAGGGATGGGGTAGAGGTAGTCCCAGCTGGCTTCAGGTTGGGGAAAGCTATTCTAGGGAAGGGGCATGCTGGGGGGTGGAAATGAGGACCTGGGGGGTATCATGGTCTGAGGGCTGGGAGGAGGGGTCACCTGGGTGTAGGTATCCTGAATGAAGAAATCCACCAGGACCATGATCAGGATGGAGATGGGGACCCCGAAGTCCCCGATGACCCGACGCAGCTGGGGGCAGGTGAAAGGACCAGTGGTCAGTGCCCAGTCACTCCCCACCTCCTGCCTTCCTCCTGCCCTATATTCACCCACGGGGCCCTGCTCTTCCAGGGGATCCATCAGCATCTAATGCCCTGTCCTGCACCTCAGCTATGTCTGCCTCCTTTCTTCTTCCCCCAGCAGTTCTCAGGCTGGGCATGCCATGAAAGTGGGAGGGGCTTGCCCATAGAGTGAAACCCTAGGTAAGGATAGGGCCAGGGGAGGTTGGAATTGGGAATGGGAATCTGAAAAAGAAGGGAAGCTAAGGGCACTGAGGAATTTGGAGCGGGGGGGCTTTGGGCTGGGATAGGGCAGTGTTGGCAAGGACAGGCGAGGAGGGTATGCTGACCTTGCCAGGGAAATAGGAGCTGTTCTTGAACTTGTGCAGCATCATGGCAAAGAAGAAGGTACCGGCCATGAGCACAAGGGAGAGGAGGGCTGTGTTGGGCAGGGGGCCCTGAGGTTTGGGCACCATCAACACGTTGTAGTTATAAGTCTTCTGTAGTGGGTGGTCCTGGAAGATCTGCAGCAGAAAACCAAGGCATTCTGTTCTCTCCCAGCTTTGGCTTGGGCTGGAAAATACCACCAGCTAACTCTACCCAGCACTACTATCCATTCATCCAGTCATCTATTAATTCATCATCCATCCATTTATCCACCCATCCATCATTCATCTATCCATTATCCATTGATCATCCATTGATTATTCATCCATCCATTCATTATCCATCTACCCATCCATCCACCTACCTATCATCTATCAACCCATTTATCCATCCATTCATCCGTCCATCATCCACCCACTCATTCATCAATCATCCATCCATCCAACCATCCATCCATCCATCCATCCGTCCATCCATTATCCATCTATTCATCCATCCATCCATCTATCTTCTTCCTCAATTGACATGGAAACAGAGGATAAATGGGATTCTACAGCTTGGTTTTCAGGAATGAAGACAGCCTAGGTTTAGGCAGGGAGGGCCATGGAAGGCAATGGGTGTGTGTGCGAGCACACATGTACACCCAGGACCTGGGAGACATGAGAAGGCTGGAGGTCAGGAAACAAGGGTCAGGGAAGTTTCTAACAAGGGGTTAAAAGACCTGGACACAGAAAGACCCTCCATCCAACAGAATCAGGGGACAACACATAGGGCTCACCCTTCTCCCATATAAAATGCAGGTACAAAGGCAAGCAGAGCTTAAGATGATGGGAGCCAAGCCAAGGTGGCTGGGCACTCCATCCACAAGCCCTGCAGCTCTTGAGGACAAGCACAGGGGAGGGAGTGGGGGACTTCAGAGGCTCCAGAGTCCCCCCAGCTCTCACTGTGCATGTACTTTCACATGCTCAGTGTCATGCCCATACCTACCCATTGCTCACGTCATGTGTGGTCATGAACTGGACATGTGCACACAGAGGCACCCTCTCATGCCTCAGCAAGAGTGCTGGCCACAGGCAGCAGGTGCCAACACATATGTGGTCACAGTCAACACAGCTGCACAGTCCTGTGTGCAGATGTGTGACTACACAGACATAGACACATATGTTGACACAGACACATATGTTGTCACAGTCATGTGCACAGTCACATGGTTATGTACACAGGTGAAAGCAAAGACACACAAATGCTGCACAGACACATGTGCGAGGACACAATGGCTCAGTCTTTTTTTTTTTTTTTTGAGACGGATTCTTGCTCTGTTGCCCAGGCTGGAGTGTAGTGGCACAATCTCGGCTCACTGCAACCTCCACCTCCCGGGTTCAAGCAGTTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGATGCATGCCACCACATCTGGCTGATTTTTGTATTTTTAATAGAGATGGAGTTTCACAATGTTGGTCAGGCTGGTCTTGAACTCCTGATCTCGGGTGATCCACCTGCCTCGGCCTCCCAAAGTTCTGAGATTACAGGCCTGAGCCCTCGCACCCGGCCACTGTCTCAGTCTTATACACAACCTCCCGTGTGCATTAACATCCCCATAGGCCCCCACCTTGATCAGCTTGGAGAAAGTCTCATAGATGAAGATGAGGGAAATGAGGAAGGAGAAGATCTCCTGGGTATAGCGGGAGATGAAGCGGACCAGGAAGCTACCCTCGAAGGCCACCACCAACACCACCAGCAGGATGAGCCAGAAGCCGATCCACACGCGGCCCACGATGTACTCTAGACCGTTGGTCTCGCAGAACTGCAGGGTGGTCAGAAGAAGCCGGTCAGTCAAAGGGTCTTGGGGCAAGGCACCATGCATCAGGCAGGTGGTGCGGGGGACATGACAGGGTCAGTGGGGCAAGGACAGAACTACCGAGAAGAAGGCTTCCTCAAACACCAGCAGGGGTCCTGAGAAGCCGACCACAAGCAGGGGCTGAGCCCCCAGCAGGGCGAAGAGAATGCCCTGCAC
Task1_train_24704
Gene SLC4A1 (solute carrier family 4 member 1 (Diego blood group)) on Chromosome 17 is impacted by this variant. Evaluate whether it is clinically benign or pathogenic and name the disorder if relevant.
Pathogenic; BLOOD GROUP--FROESE
CATTTTGCATTTTTTTTTCTTTTTCTTTTTTTTCCTAGAGTCTTGCTCTGTCGCCCAGGCTGGAGTGCAGTGGTGCGATTTTGGCTCACTGCAACCTCTGCCTCCCGGGTTCAAGTGATTTTCCTGCTTCAGCCTCCCAAGTAGCTGGGACTACGGGCACATGCCACCACACTCGGTTAATTTTTGTATTTTTAGTAGAAACGGGGTTTCACCATATTAGTCAGGCTGGTCTCAAACTACTGACCTCGTGATCCCCCCGTCTTGGCTTCCCAAAGTGCTAGGATTACAGATGTGAGCCACCTCACCTGGCGCTTTTTTTTTTTTTTTTTTTTTGAGATGGAGTTTCACTCTCGTTGCCCAAGTTGGAGTGCAATGGCGAGATCTCGGCTCACTGCAACCTCCGCCTCCCGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCAAGTAGCTGAGATTACAGGCTCGTGCCACCATGCCCGCCTAATTTTTTGTATTTTTAGTAGAAACAGGGCTTCACCATGTTAGCCAAGCTGGTCTCGAACTCCTGACCTCAGGTGATCTGCCCGCCTCGGCCTCTCAAACTGTTGGGATTACGGGCGTGAGCCACCGCGCCCGGCCACGTTTTTTTTTTCTTAAAAAGAGCTCTCCAAATTATACAACTTCTGGTCCCACAAAACCTGGAACTGCCCCTGGCTTTTCACTATTCCTGCTAGTCGGGAGGGCCACACACCCGCAGGGACTAGCTTGCAGTCCTGGGTCTCTTGCCTGCCTGGGAGAATGCCAGGGAAAGGTCCCTGCCTCCCACCCTCCCAGGCCCAGCCCCCACCCTGTCTCTCACGTGGTGATCTGAGACTCCAGGAATATGAGGATGAAGACCAGCAGAGCAGGCAGGGCGGAGGCAAACATCATCCAGATGGGAAACTCGGAACGCAAGCCCAGTGGGTGGATGACCCAGCCCCGGGCTGAGGAGTTGGACACCTTGAAGCCATCAGGCACCGAGAGTTTCTGTGGGAGGGGGTAGCAGGTAAGAATGCCAAGGGCAGGAGGATGGGGAAGGGTGGGAGCAGGAGGAGCCAGGGTCCTAGGGGTCGGGCAGTTAGGTTGGAGGCACTTGGGAACTTACTTATATTGAGCACTTGCTCTGTACCTAATCATTACACTAATCCCTTTACATCCATCTGCTCGTTCCCCACTTTAAAGATGAGGAAAGAGAATCAGAGAGGTTATGTAGCTTGCCCCACATCACACAGCTATTTGATGGCAGAGCTGGGATTCATGCCTAGATCTGCCTGGCTCCAAAGAATACTTCTTCCTACTGCTCTGGGTTAAGGAATGAAGGTGGCAACCTGGCCCAGCACCTTGCTTTGGCCACAGGGGTCCTCTGGGGCTGTGAGAAGCACATGGGACTCCCAGAGGAGGCAGGGATGGGGTAGAGGTAGTCCCAGCTGGCTTCAGGTTGGGGAAAGCTATTCTAGGGAAGGGGCATGCTGGGGGGTGGAAATGAGGACCTGGGGGGTATCATGGTCTGAGGGCTGGGAGGAGGGGTCACCTGGGTGTAGGTATCCTGAATGAAGAAATCCACCAGGACCATGATCAGGATGGAGATGGGGACCCCGAAGTCCCCGATGACCCGACGCAGCTGGGGGCAGGTGAAAGGACCAGTGGTCAGTGCCCAGTCACTCCCCACCTCCTGCCTTCCTCCTGCCCTATATTCACCCACGGGGCCCTGCTCTTCCAGGGGATCCATCAGCATCTAATGCCCTGTCCTGCACCTCAGCTATGTCTGCCTCCTTTCTTCTTCCCCCAGCAGTTCTCAGGCTGGGCATGCCATGAAAGTGGGAGGGGCTTGCCCATAGAGTGAAACCCTAGGTAAGGATAGGGCCAGGGGAGGTTGGAATTGGGAATGGGAATCTGAAAAAGAAGGGAAGCTAAGGGCACTGAGGAATTTGGAGCGGGGGGGCTTTGGGCTGGGATAGGGCAGTGTTGGCAAGGACAGGCGAGGAGGGTATGCTGACCTTGCCAGGGAAATAGGAGCTGTTCTTGAACTTGCGCAGCATCATGGCAAAGAAGAAGGTACCGGCCATGAGCACAAGGGAGAGGAGGGCTGTGTTGGGCAGGGGGCCCTGAGGTTTGGGCACCATCAACACGTTGTAGTTATAAGTCTTCTGTAGTGGGTGGTCCTGGAAGATCTGCAGCAGAAAACCAAGGCATTCTGTTCTCTCCCAGCTTTGGCTTGGGCTGGAAAATACCACCAGCTAACTCTACCCAGCACTACTATCCATTCATCCAGTCATCTATTAATTCATCATCCATCCATTTATCCACCCATCCATCATTCATCTATCCATTATCCATTGATCATCCATTGATTATTCATCCATCCATTCATTATCCATCTACCCATCCATCCACCTACCTATCATCTATCAACCCATTTATCCATCCATTCATCCGTCCATCATCCACCCACTCATTCATCAATCATCCATCCATCCAACCATCCATCCATCCATCCATCCGTCCATCCATTATCCATCTATTCATCCATCCATCCATCTATCTTCTTCCTCAATTGACATGGAAACAGAGGATAAATGGGATTCTACAGCTTGGTTTTCAGGAATGAAGACAGCCTAGGTTTAGGCAGGGAGGGCCATGGAAGGCAATGGGTGTGTGTGCGAGCACACATGTACACCCAGGACCTGGGAGACATGAGAAGGCTGGAGGTCAGGAAACAAGGGTCAGGGAAGTTTCTAACAAGGGGTTAAAAGACCTGGACACAGAAAGACCCTCCATCCAACAGAATCAGGGGACAACACATAGGGCTCACCCTTCTCCCATATAAAATGCAGGTACAAAGGCAAGCAGAGCTTAAGATGATGGGAGCCAAGCCAAGGTGGCTGGGCACTCCATCCACAAGCCCTGCAGCTCTTGAGGACAAGCACAGGGGAGGGAGTGGGGGACTTCAGAGGCTCCAGAGTCCCCCCAGCTCTCACTGTGCATGTACTTTCACATGCTCAGTGTCATGCCCATACCTACCCATTGCTCACGTCATGTGTGGTCATGAACTGGACATGTGCACACAGAGGCACCCTCTCATGCCTCAGCAAGAGTGCTGGCCACAGGCAGCAGGTGCCAACACATATGTGGTCACAGTCAACACAGCTGCACAGTCCTGTGTGCAGATGTGTGACTACACAGACATAGACACATATGTTGACACAGACACATATGTTGTCACAGTCATGTGCACAGTCACATGGTTATGTACACAGGTGAAAGCAAAGACACACAAATGCTGCACAGACACATGTGCGAGGACACAATGGCTCAGTCTTTTTTTTTTTTTTTTGAGACGGATTCTTGCTCTGTTGCCCAGGCTGGAGTGTAGTGGCACAATCTCGGCTCACTGCAACCTCCACCTCCCGGGTTCAAGCAGTTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGATGCATGCCACCACATCTGGCTGATTTTTGTATTTTTAATAGAGATGGAGTTTCACAATGTTGGTCAGGCTGGTCTTGAACTCCTGATCTCGGGTGATCCACCTGCCTCGGCCTCCCAAAGTTCTGAGATTACAGGCCTGAGCCCTCGCACCCGGCCACTGTCTCAGTCTTATACACAACCTCCCGTGTGCATTAACATCCCCATAGGCCCCCACCTTGATCAGCTTGGAGAAAGTCTCATAGATGAAGATGAGGGAAATGAGGAAGGAGAAGATCTCCTGGGTATAGCGGGAGATGAAGCGGACCAGGAAGCTACCCTCGAAGGCCACCACCAACACCACCAGCAGGATGAGCCAGAAGCCGATCCACACGCGGCCCACGATGTACTCTAGACCGTTGGTCTCGCAGAACTGCAGGGTGGTCAGAAGAAGCCGGTCAGTCAAAGGGTCTTGGGGCAAGGCACCATGCATCAGGCAGGTGGTGCGGGGGACATGACAGGGTCAGTGGGGCAAGGACAGAACTACCGAGAAGAAGGCTTCCTCAAACACCAGCAGGGGTCCTGAGAAGCCGACCACAAGCAGGGGCTGAGCCCCCAGCAGGGCGAAGAGAATGCCCTGCAC
CATTTTGCATTTTTTTTTCTTTTTCTTTTTTTTCCTAGAGTCTTGCTCTGTCGCCCAGGCTGGAGTGCAGTGGTGCGATTTTGGCTCACTGCAACCTCTGCCTCCCGGGTTCAAGTGATTTTCCTGCTTCAGCCTCCCAAGTAGCTGGGACTACGGGCACATGCCACCACACTCGGTTAATTTTTGTATTTTTAGTAGAAACGGGGTTTCACCATATTAGTCAGGCTGGTCTCAAACTACTGACCTCGTGATCCCCCCGTCTTGGCTTCCCAAAGTGCTAGGATTACAGATGTGAGCCACCTCACCTGGCGCTTTTTTTTTTTTTTTTTTTTTGAGATGGAGTTTCACTCTCGTTGCCCAAGTTGGAGTGCAATGGCGAGATCTCGGCTCACTGCAACCTCCGCCTCCCGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCAAGTAGCTGAGATTACAGGCTCGTGCCACCATGCCCGCCTAATTTTTTGTATTTTTAGTAGAAACAGGGCTTCACCATGTTAGCCAAGCTGGTCTCGAACTCCTGACCTCAGGTGATCTGCCCGCCTCGGCCTCTCAAACTGTTGGGATTACGGGCGTGAGCCACCGCGCCCGGCCACGTTTTTTTTTTCTTAAAAAGAGCTCTCCAAATTATACAACTTCTGGTCCCACAAAACCTGGAACTGCCCCTGGCTTTTCACTATTCCTGCTAGTCGGGAGGGCCACACACCCGCAGGGACTAGCTTGCAGTCCTGGGTCTCTTGCCTGCCTGGGAGAATGCCAGGGAAAGGTCCCTGCCTCCCACCCTCCCAGGCCCAGCCCCCACCCTGTCTCTCACGTGGTGATCTGAGACTCCAGGAATATGAGGATGAAGACCAGCAGAGCAGGCAGGGCGGAGGCAAACATCATCCAGATGGGAAACTCGGAACGCAAGCCCAGTGGGTGGATGACCCAGCCCCGGGCTGAGGAGTTGGACACCTTGAAGCCATCAGGCACCGAGAGTTTCTGTGGGAGGGGGTAGCAGGTAAGAATGCCAAGGGCAGGAGGATGGGGAAGGGTGGGAGCAGGAGGAGCCAGGGTCCTAGGGGTCGGGCAGTTAGGTTGGAGGCACTTGGGAACTTACTTATATTGAGCACTTGCTCTGTACCTAATCATTACACTAATCCCTTTACATCCATCTGCTCGTTCCCCACTTTAAAGATGAGGAAAGAGAATCAGAGAGGTTATGTAGCTTGCCCCACATCACACAGCTATTTGATGGCAGAGCTGGGATTCATGCCTAGATCTGCCTGGCTCCAAAGAATACTTCTTCCTACTGCTCTGGGTTAAGGAATGAAGGTGGCAACCTGGCCCAGCACCTTGCTTTGGCCACAGGGGTCCTCTGGGGCTGTGAGAAGCACATGGGACTCCCAGAGGAGGCAGGGATGGGGTAGAGGTAGTCCCAGCTGGCTTCAGGTTGGGGAAAGCTATTCTAGGGAAGGGGCATGCTGGGGGGTGGAAATGAGGACCTGGGGGGTATCATGGTCTGAGGGCTGGGAGGAGGGGTCACCTGGGTGTAGGTATCCTGAATGAAGAAATCCACCAGGACCATGATCAGGATGGAGATGGGGACCCCGAAGTCCCCGATGACCCGACGCAGCTGGGGGCAGGTGAAAGGACCAGTGGTCAGTGCCCAGTCACTCCCCACCTCCTGCCTTCCTCCTGCCCTATATTCACCCACGGGGCCCTGCTCTTCCAGGGGATCCATCAGCATCTAATGCCCTGTCCTGCACCTCAGCTATGTCTGCCTCCTTTCTTCTTCCCCCAGCAGTTCTCAGGCTGGGCATGCCATGAAAGTGGGAGGGGCTTGCCCATAGAGTGAAACCCTAGGTAAGGATAGGGCCAGGGGAGGTTGGAATTGGGAATGGGAATCTGAAAAAGAAGGGAAGCTAAGGGCACTGAGGAATTTGGAGCGGGGGGGCTTTGGGCTGGGATAGGGCAGTGTTGGCAAGGACAGGCGAGGAGGGTATGCTGACCTTGCCAGGGAAATAGGAGCTGTTCTTGAACTTGTGCAGCATCATGGCAAAGAAGAAGGTACCGGCCATGAGCACAAGGGAGAGGAGGGCTGTGTTGGGCAGGGGGCCCTGAGGTTTGGGCACCATCAACACGTTGTAGTTATAAGTCTTCTGTAGTGGGTGGTCCTGGAAGATCTGCAGCAGAAAACCAAGGCATTCTGTTCTCTCCCAGCTTTGGCTTGGGCTGGAAAATACCACCAGCTAACTCTACCCAGCACTACTATCCATTCATCCAGTCATCTATTAATTCATCATCCATCCATTTATCCACCCATCCATCATTCATCTATCCATTATCCATTGATCATCCATTGATTATTCATCCATCCATTCATTATCCATCTACCCATCCATCCACCTACCTATCATCTATCAACCCATTTATCCATCCATTCATCCGTCCATCATCCACCCACTCATTCATCAATCATCCATCCATCCAACCATCCATCCATCCATCCATCCGTCCATCCATTATCCATCTATTCATCCATCCATCCATCTATCTTCTTCCTCAATTGACATGGAAACAGAGGATAAATGGGATTCTACAGCTTGGTTTTCAGGAATGAAGACAGCCTAGGTTTAGGCAGGGAGGGCCATGGAAGGCAATGGGTGTGTGTGCGAGCACACATGTACACCCAGGACCTGGGAGACATGAGAAGGCTGGAGGTCAGGAAACAAGGGTCAGGGAAGTTTCTAACAAGGGGTTAAAAGACCTGGACACAGAAAGACCCTCCATCCAACAGAATCAGGGGACAACACATAGGGCTCACCCTTCTCCCATATAAAATGCAGGTACAAAGGCAAGCAGAGCTTAAGATGATGGGAGCCAAGCCAAGGTGGCTGGGCACTCCATCCACAAGCCCTGCAGCTCTTGAGGACAAGCACAGGGGAGGGAGTGGGGGACTTCAGAGGCTCCAGAGTCCCCCCAGCTCTCACTGTGCATGTACTTTCACATGCTCAGTGTCATGCCCATACCTACCCATTGCTCACGTCATGTGTGGTCATGAACTGGACATGTGCACACAGAGGCACCCTCTCATGCCTCAGCAAGAGTGCTGGCCACAGGCAGCAGGTGCCAACACATATGTGGTCACAGTCAACACAGCTGCACAGTCCTGTGTGCAGATGTGTGACTACACAGACATAGACACATATGTTGACACAGACACATATGTTGTCACAGTCATGTGCACAGTCACATGGTTATGTACACAGGTGAAAGCAAAGACACACAAATGCTGCACAGACACATGTGCGAGGACACAATGGCTCAGTCTTTTTTTTTTTTTTTTGAGACGGATTCTTGCTCTGTTGCCCAGGCTGGAGTGTAGTGGCACAATCTCGGCTCACTGCAACCTCCACCTCCCGGGTTCAAGCAGTTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGATGCATGCCACCACATCTGGCTGATTTTTGTATTTTTAATAGAGATGGAGTTTCACAATGTTGGTCAGGCTGGTCTTGAACTCCTGATCTCGGGTGATCCACCTGCCTCGGCCTCCCAAAGTTCTGAGATTACAGGCCTGAGCCCTCGCACCCGGCCACTGTCTCAGTCTTATACACAACCTCCCGTGTGCATTAACATCCCCATAGGCCCCCACCTTGATCAGCTTGGAGAAAGTCTCATAGATGAAGATGAGGGAAATGAGGAAGGAGAAGATCTCCTGGGTATAGCGGGAGATGAAGCGGACCAGGAAGCTACCCTCGAAGGCCACCACCAACACCACCAGCAGGATGAGCCAGAAGCCGATCCACACGCGGCCCACGATGTACTCTAGACCGTTGGTCTCGCAGAACTGCAGGGTGGTCAGAAGAAGCCGGTCAGTCAAAGGGTCTTGGGGCAAGGCACCATGCATCAGGCAGGTGGTGCGGGGGACATGACAGGGTCAGTGGGGCAAGGACAGAACTACCGAGAAGAAGGCTTCCTCAAACACCAGCAGGGGTCCTGAGAAGCCGACCACAAGCAGGGGCTGAGCCCCCAGCAGGGCGAAGAGAATGCCCTGCAC
Task1_train_24705
The variant affects gene SLC4A1 (solute carrier family 4 member 1 (Diego blood group)), which is on Chromosome 17. Please evaluate whether this mutation is benign or pathogenic and specify the disease if necessary.
Pathogenic; BLOOD GROUP--WRIGHT ANTIGEN
CATTTTGCATTTTTTTTTCTTTTTCTTTTTTTTCCTAGAGTCTTGCTCTGTCGCCCAGGCTGGAGTGCAGTGGTGCGATTTTGGCTCACTGCAACCTCTGCCTCCCGGGTTCAAGTGATTTTCCTGCTTCAGCCTCCCAAGTAGCTGGGACTACGGGCACATGCCACCACACTCGGTTAATTTTTGTATTTTTAGTAGAAACGGGGTTTCACCATATTAGTCAGGCTGGTCTCAAACTACTGACCTCGTGATCCCCCCGTCTTGGCTTCCCAAAGTGCTAGGATTACAGATGTGAGCCACCTCACCTGGCGCTTTTTTTTTTTTTTTTTTTTTGAGATGGAGTTTCACTCTCGTTGCCCAAGTTGGAGTGCAATGGCGAGATCTCGGCTCACTGCAACCTCCGCCTCCCGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCAAGTAGCTGAGATTACAGGCTCGTGCCACCATGCCCGCCTAATTTTTTGTATTTTTAGTAGAAACAGGGCTTCACCATGTTAGCCAAGCTGGTCTCGAACTCCTGACCTCAGGTGATCTGCCCGCCTCGGCCTCTCAAACTGTTGGGATTACGGGCGTGAGCCACCGCGCCCGGCCACGTTTTTTTTTTCTTAAAAAGAGCTCTCCAAATTATACAACTTCTGGTCCCACAAAACCTGGAACTGCCCCTGGCTTTTCACTATTCCTGCTAGTCGGGAGGGCCACACACCCGCAGGGACTAGCTTGCAGTCCTGGGTCTCTTGCCTGCCTGGGAGAATGCCAGGGAAAGGTCCCTGCCTCCCACCCTCCCAGGCCCAGCCCCCACCCTGTCTCTCACGTGGTGATCTGAGACTCCAGGAATATGAGGATGAAGACCAGCAGAGCAGGCAGGGCGGAGGCAAACATCATCCAGATGGGAAACTCGGAACGCAAGCCCAGTGGGTGGATGACCCAGCCCCGGGCTGAGGAGTTGGACACCTTGAAGCCATCAGGCACCGAGAGTTTCTGTGGGAGGGGGTAGCAGGTAAGAATGCCAAGGGCAGGAGGATGGGGAAGGGTGGGAGCAGGAGGAGCCAGGGTCCTAGGGGTCGGGCAGTTAGGTTGGAGGCACTTGGGAACTTACTTATATTGAGCACTTGCTCTGTACCTAATCATTACACTAATCCCTTTACATCCATCTGCTCGTTCCCCACTTTAAAGATGAGGAAAGAGAATCAGAGAGGTTATGTAGCTTGCCCCACATCACACAGCTATTTGATGGCAGAGCTGGGATTCATGCCTAGATCTGCCTGGCTCCAAAGAATACTTCTTCCTACTGCTCTGGGTTAAGGAATGAAGGTGGCAACCTGGCCCAGCACCTTGCTTTGGCCACAGGGGTCCTCTGGGGCTGTGAGAAGCACATGGGACTCCCAGAGGAGGCAGGGATGGGGTAGAGGTAGTCCCAGCTGGCTTCAGGTTGGGGAAAGCTATTCTAGGGAAGGGGCATGCTGGGGGGTGGAAATGAGGACCTGGGGGGTATCATGGTCTGAGGGCTGGGAGGAGGGGTCACCTGGGTGTAGGTATCCTGAATGAAGAAATCCACCAGGACCATGATCAGGATGGAGATGGGGACCCCGAAGTCCCCGATGACCCGACGCAGCTGGGGGCAGGTGAAAGGACCAGTGGTCAGTGCCCAGTCACTCCCCACCTCCTGCCTTCCTCCTGCCCTATATTCACCCACGGGGCCCTGCTCTTCCAGGGGATCCATCAGCATCTAATGCCCTGTCCTGCACCTCAGCTATGTCTGCCTCCTTTCTTCTTCCCCCAGCAGTTCTCAGGCTGGGCATGCCATGAAAGTGGGAGGGGCTTGCCCATAGAGTGAAACCCTAGGTAAGGATAGGGCCAGGGGAGGTTGGAATTGGGAATGGGAATCTGAAAAAGAAGGGAAGCTAAGGGCACTGAGGAATTTGGAGCGGGGGGGCTTTGGGCTGGGATAGGGCAGTGTTGGCAAGGACAGGCGAGGAGGGTATGCTGACCTTGCCAGGGAAATAGGAGCTGTTCTTGAACTTGCGCAGCATCATGGCAAAGAAGAAGGTACCGGCCATGAGCACAAGGGAGAGGAGGGCTGTGTTGGGCAGGGGGCCCTGAGGTTTGGGCACCATCAACACGTTGTAGTTATAAGTCTTCTGTAGTGGGTGGTCCTGGAAGATCTGCAGCAGAAAACCAAGGCATTCTGTTCTCTCCCAGCTTTGGCTTGGGCTGGAAAATACCACCAGCTAACTCTACCCAGCACTACTATCCATTCATCCAGTCATCTATTAATTCATCATCCATCCATTTATCCACCCATCCATCATTCATCTATCCATTATCCATTGATCATCCATTGATTATTCATCCATCCATTCATTATCCATCTACCCATCCATCCACCTACCTATCATCTATCAACCCATTTATCCATCCATTCATCCGTCCATCATCCACCCACTCATTCATCAATCATCCATCCATCCAACCATCCATCCATCCATCCATCCGTCCATCCATTATCCATCTATTCATCCATCCATCCATCTATCTTCTTCCTCAATTGACATGGAAACAGAGGATAAATGGGATTCTACAGCTTGGTTTTCAGGAATGAAGACAGCCTAGGTTTAGGCAGGGAGGGCCATGGAAGGCAATGGGTGTGTGTGCGAGCACACATGTACACCCAGGACCTGGGAGACATGAGAAGGCTGGAGGTCAGGAAACAAGGGTCAGGGAAGTTTCTAACAAGGGGTTAAAAGACCTGGACACAGAAAGACCCTCCATCCAACAGAATCAGGGGACAACACATAGGGCTCACCCTTCTCCCATATAAAATGCAGGTACAAAGGCAAGCAGAGCTTAAGATGATGGGAGCCAAGCCAAGGTGGCTGGGCACTCCATCCACAAGCCCTGCAGCTCTTGAGGACAAGCACAGGGGAGGGAGTGGGGGACTTCAGAGGCTCCAGAGTCCCCCCAGCTCTCACTGTGCATGTACTTTCACATGCTCAGTGTCATGCCCATACCTACCCATTGCTCACGTCATGTGTGGTCATGAACTGGACATGTGCACACAGAGGCACCCTCTCATGCCTCAGCAAGAGTGCTGGCCACAGGCAGCAGGTGCCAACACATATGTGGTCACAGTCAACACAGCTGCACAGTCCTGTGTGCAGATGTGTGACTACACAGACATAGACACATATGTTGACACAGACACATATGTTGTCACAGTCATGTGCACAGTCACATGGTTATGTACACAGGTGAAAGCAAAGACACACAAATGCTGCACAGACACATGTGCGAGGACACAATGGCTCAGTCTTTTTTTTTTTTTTTTGAGACGGATTCTTGCTCTGTTGCCCAGGCTGGAGTGTAGTGGCACAATCTCGGCTCACTGCAACCTCCACCTCCCGGGTTCAAGCAGTTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGATGCATGCCACCACATCTGGCTGATTTTTGTATTTTTAATAGAGATGGAGTTTCACAATGTTGGTCAGGCTGGTCTTGAACTCCTGATCTCGGGTGATCCACCTGCCTCGGCCTCCCAAAGTTCTGAGATTACAGGCCTGAGCCCTCGCACCCGGCCACTGTCTCAGTCTTATACACAACCTCCCGTGTGCATTAACATCCCCATAGGCCCCCACCTTGATCAGCTTGGAGAAAGTCTCATAGATGAAGATGAGGGAAATGAGGAAGGAGAAGATCTCCTGGGTATAGCGGGAGATGAAGCGGACCAGGAAGCTACCCTCGAAGGCCACCACCAACACCACCAGCAGGATGAGCCAGAAGCCGATCCACACGCGGCCCACGATGTACTCTAGACCGTTGGTCTCGCAGAACTGCAGGGTGGTCAGAAGAAGCCGGTCAGTCAAAGGGTCTTGGGGCAAGGCACCATGCATCAGGCAGGTGGTGCGGGGGACATGACAGGGTCAGTGGGGCAAGGACAGAACTACCGAGAAGAAGGCTTCCTCAAACACCAGCAGGGGTCCTGAGAAGCCGACCACAAGCAGGGGCTGAGCCCCCAGCAGGGCGAAGAGAATGCCCTGCAC
CATTTTGCATTTTTTTTTCTTTTTCTTTTTTTTCCTAGAGTCTTGCTCTGTCGCCCAGGCTGGAGTGCAGTGGTGCGATTTTGGCTCACTGCAACCTCTGCCTCCCGGGTTCAAGTGATTTTCCTGCTTCAGCCTCCCAAGTAGCTGGGACTACGGGCACATGCCACCACACTCGGTTAATTTTTGTATTTTTAGTAGAAACGGGGTTTCACCATATTAGTCAGGCTGGTCTCAAACTACTGACCTCGTGATCCCCCCGTCTTGGCTTCCCAAAGTGCTAGGATTACAGATGTGAGCCACCTCACCTGGCGCTTTTTTTTTTTTTTTTTTTTTGAGATGGAGTTTCACTCTCGTTGCCCAAGTTGGAGTGCAATGGCGAGATCTCGGCTCACTGCAACCTCCGCCTCCCGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCAAGTAGCTGAGATTACAGGCTCGTGCCACCATGCCCGCCTAATTTTTTGTATTTTTAGTAGAAACAGGGCTTCACCATGTTAGCCAAGCTGGTCTCGAACTCCTGACCTCAGGTGATCTGCCCGCCTCGGCCTCTCAAACTGTTGGGATTACGGGCGTGAGCCACCGCGCCCGGCCACGTTTTTTTTTTCTTAAAAAGAGCTCTCCAAATTATACAACTTCTGGTCCCACAAAACCTGGAACTGCCCCTGGCTTTTCACTATTCCTGCTAGTCGGGAGGGCCACACACCCGCAGGGACTAGCTTGCAGTCCTGGGTCTCTTGCCTGCCTGGGAGAATGCCAGGGAAAGGTCCCTGCCTCCCACCCTCCCAGGCCCAGCCCCCACCCTGTCTCTCACGTGGTGATCTGAGACTCCAGGAATATGAGGATGAAGACCAGCAGAGCAGGCAGGGCGGAGGCAAACATCATCCAGATGGGAAACTCGGAACGCAAGCCCAGTGGGTGGATGACCCAGCCCCGGGCTGAGGAGTTGGACACCTTGAAGCCATCAGGCACCGAGAGTTTCTGTGGGAGGGGGTAGCAGGTAAGAATGCCAAGGGCAGGAGGATGGGGAAGGGTGGGAGCAGGAGGAGCCAGGGTCCTAGGGGTCGGGCAGTTAGGTTGGAGGCACTTGGGAACTTACTTATATTGAGCACTTGCTCTGTACCTAATCATTACACTAATCCCTTTACATCCATCTGCTCGTTCCCCACTTTAAAGATGAGGAAAGAGAATCAGAGAGGTTATGTAGCTTGCCCCACATCACACAGCTATTTGATGGCAGAGCTGGGATTCATGCCTAGATCTGCCTGGCTCCAAAGAATACTTCTTCCTACTGCTCTGGGTTAAGGAATGAAGGTGGCAACCTGGCCCAGCACCTTGCTTTGGCCACAGGGGTCCTCTGGGGCTGTGAGAAGCACATGGGACTCCCAGAGGAGGCAGGGATGGGGTAGAGGTAGTCCCAGCTGGCTTCAGGTTGGGGAAAGCTATTCTAGGGAAGGGGCATGCTGGGGGGTGGAAATGAGGACCTGGGGGGTATCATGGTCTGAGGGCTGGGAGGAGGGGTCACCTGGGTGTAGGTATCCTGAATGAAGAAATCCACCAGGACCATGATCAGGATGGAGATGGGGACCCCGAAGTCCCCGATGACCCGACGCAGCTGGGGGCAGGTGAAAGGACCAGTGGTCAGTGCCCAGTCACTCCCCACCTCCTGCCTTCCTCCTGCCCTATATTCACCCACGGGGCCCTGCTCTTCCAGGGGATCCATCAGCATCTAATGCCCTGTCCTGCACCTCAGCTATGTCTGCCTCCTTTCTTCTTCCCCCAGCAGTTCTCAGGCTGGGCATGCCATGAAAGTGGGAGGGGCTTGCCCATAGAGTGAAACCCTAGGTAAGGATAGGGCCAGGGGAGGTTGGAATTGGGAATGGGAATCTGAAAAAGAAGGGAAGCTAAGGGCACTGAGGAATTTGGAGCGGGGGGGCTTTGGGCTGGGATAGGGCAGTGTTGGCAAGGACAGGCGAGGAGGGTATGCTGACCTTGCCAGGGAAATAGGAGCTGTTCTTGAACTTGTGCAGCATCATGGCAAAGAAGAAGGTACCGGCCATGAGCACAAGGGAGAGGAGGGCTGTGTTGGGCAGGGGGCCCTGAGGTTTGGGCACCATCAACACGTTGTAGTTATAAGTCTTCTGTAGTGGGTGGTCCTGGAAGATCTGCAGCAGAAAACCAAGGCATTCTGTTCTCTCCCAGCTTTGGCTTGGGCTGGAAAATACCACCAGCTAACTCTACCCAGCACTACTATCCATTCATCCAGTCATCTATTAATTCATCATCCATCCATTTATCCACCCATCCATCATTCATCTATCCATTATCCATTGATCATCCATTGATTATTCATCCATCCATTCATTATCCATCTACCCATCCATCCACCTACCTATCATCTATCAACCCATTTATCCATCCATTCATCCGTCCATCATCCACCCACTCATTCATCAATCATCCATCCATCCAACCATCCATCCATCCATCCATCCGTCCATCCATTATCCATCTATTCATCCATCCATCCATCTATCTTCTTCCTCAATTGACATGGAAACAGAGGATAAATGGGATTCTACAGCTTGGTTTTCAGGAATGAAGACAGCCTAGGTTTAGGCAGGGAGGGCCATGGAAGGCAATGGGTGTGTGTGCGAGCACACATGTACACCCAGGACCTGGGAGACATGAGAAGGCTGGAGGTCAGGAAACAAGGGTCAGGGAAGTTTCTAACAAGGGGTTAAAAGACCTGGACACAGAAAGACCCTCCATCCAACAGAATCAGGGGACAACACATAGGGCTCACCCTTCTCCCATATAAAATGCAGGTACAAAGGCAAGCAGAGCTTAAGATGATGGGAGCCAAGCCAAGGTGGCTGGGCACTCCATCCACAAGCCCTGCAGCTCTTGAGGACAAGCACAGGGGAGGGAGTGGGGGACTTCAGAGGCTCCAGAGTCCCCCCAGCTCTCACTGTGCATGTACTTTCACATGCTCAGTGTCATGCCCATACCTACCCATTGCTCACGTCATGTGTGGTCATGAACTGGACATGTGCACACAGAGGCACCCTCTCATGCCTCAGCAAGAGTGCTGGCCACAGGCAGCAGGTGCCAACACATATGTGGTCACAGTCAACACAGCTGCACAGTCCTGTGTGCAGATGTGTGACTACACAGACATAGACACATATGTTGACACAGACACATATGTTGTCACAGTCATGTGCACAGTCACATGGTTATGTACACAGGTGAAAGCAAAGACACACAAATGCTGCACAGACACATGTGCGAGGACACAATGGCTCAGTCTTTTTTTTTTTTTTTTGAGACGGATTCTTGCTCTGTTGCCCAGGCTGGAGTGTAGTGGCACAATCTCGGCTCACTGCAACCTCCACCTCCCGGGTTCAAGCAGTTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGATGCATGCCACCACATCTGGCTGATTTTTGTATTTTTAATAGAGATGGAGTTTCACAATGTTGGTCAGGCTGGTCTTGAACTCCTGATCTCGGGTGATCCACCTGCCTCGGCCTCCCAAAGTTCTGAGATTACAGGCCTGAGCCCTCGCACCCGGCCACTGTCTCAGTCTTATACACAACCTCCCGTGTGCATTAACATCCCCATAGGCCCCCACCTTGATCAGCTTGGAGAAAGTCTCATAGATGAAGATGAGGGAAATGAGGAAGGAGAAGATCTCCTGGGTATAGCGGGAGATGAAGCGGACCAGGAAGCTACCCTCGAAGGCCACCACCAACACCACCAGCAGGATGAGCCAGAAGCCGATCCACACGCGGCCCACGATGTACTCTAGACCGTTGGTCTCGCAGAACTGCAGGGTGGTCAGAAGAAGCCGGTCAGTCAAAGGGTCTTGGGGCAAGGCACCATGCATCAGGCAGGTGGTGCGGGGGACATGACAGGGTCAGTGGGGCAAGGACAGAACTACCGAGAAGAAGGCTTCCTCAAACACCAGCAGGGGTCCTGAGAAGCCGACCACAAGCAGGGGCTGAGCCCCCAGCAGGGCGAAGAGAATGCCCTGCAC
Task1_train_24706
The variant affects gene SLC4A1 (solute carrier family 4 member 1 (Diego blood group)), which is on Chromosome 17. Please evaluate whether this mutation is benign or pathogenic and specify the disease if necessary.
Pathogenic; Hereditary spherocytosis type 4
CATTTTGCATTTTTTTTTCTTTTTCTTTTTTTTCCTAGAGTCTTGCTCTGTCGCCCAGGCTGGAGTGCAGTGGTGCGATTTTGGCTCACTGCAACCTCTGCCTCCCGGGTTCAAGTGATTTTCCTGCTTCAGCCTCCCAAGTAGCTGGGACTACGGGCACATGCCACCACACTCGGTTAATTTTTGTATTTTTAGTAGAAACGGGGTTTCACCATATTAGTCAGGCTGGTCTCAAACTACTGACCTCGTGATCCCCCCGTCTTGGCTTCCCAAAGTGCTAGGATTACAGATGTGAGCCACCTCACCTGGCGCTTTTTTTTTTTTTTTTTTTTTGAGATGGAGTTTCACTCTCGTTGCCCAAGTTGGAGTGCAATGGCGAGATCTCGGCTCACTGCAACCTCCGCCTCCCGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCAAGTAGCTGAGATTACAGGCTCGTGCCACCATGCCCGCCTAATTTTTTGTATTTTTAGTAGAAACAGGGCTTCACCATGTTAGCCAAGCTGGTCTCGAACTCCTGACCTCAGGTGATCTGCCCGCCTCGGCCTCTCAAACTGTTGGGATTACGGGCGTGAGCCACCGCGCCCGGCCACGTTTTTTTTTTCTTAAAAAGAGCTCTCCAAATTATACAACTTCTGGTCCCACAAAACCTGGAACTGCCCCTGGCTTTTCACTATTCCTGCTAGTCGGGAGGGCCACACACCCGCAGGGACTAGCTTGCAGTCCTGGGTCTCTTGCCTGCCTGGGAGAATGCCAGGGAAAGGTCCCTGCCTCCCACCCTCCCAGGCCCAGCCCCCACCCTGTCTCTCACGTGGTGATCTGAGACTCCAGGAATATGAGGATGAAGACCAGCAGAGCAGGCAGGGCGGAGGCAAACATCATCCAGATGGGAAACTCGGAACGCAAGCCCAGTGGGTGGATGACCCAGCCCCGGGCTGAGGAGTTGGACACCTTGAAGCCATCAGGCACCGAGAGTTTCTGTGGGAGGGGGTAGCAGGTAAGAATGCCAAGGGCAGGAGGATGGGGAAGGGTGGGAGCAGGAGGAGCCAGGGTCCTAGGGGTCGGGCAGTTAGGTTGGAGGCACTTGGGAACTTACTTATATTGAGCACTTGCTCTGTACCTAATCATTACACTAATCCCTTTACATCCATCTGCTCGTTCCCCACTTTAAAGATGAGGAAAGAGAATCAGAGAGGTTATGTAGCTTGCCCCACATCACACAGCTATTTGATGGCAGAGCTGGGATTCATGCCTAGATCTGCCTGGCTCCAAAGAATACTTCTTCCTACTGCTCTGGGTTAAGGAATGAAGGTGGCAACCTGGCCCAGCACCTTGCTTTGGCCACAGGGGTCCTCTGGGGCTGTGAGAAGCACATGGGACTCCCAGAGGAGGCAGGGATGGGGTAGAGGTAGTCCCAGCTGGCTTCAGGTTGGGGAAAGCTATTCTAGGGAAGGGGCATGCTGGGGGGTGGAAATGAGGACCTGGGGGGTATCATGGTCTGAGGGCTGGGAGGAGGGGTCACCTGGGTGTAGGTATCCTGAATGAAGAAATCCACCAGGACCATGATCAGGATGGAGATGGGGACCCCGAAGTCCCCGATGACCCGACGCAGCTGGGGGCAGGTGAAAGGACCAGTGGTCAGTGCCCAGTCACTCCCCACCTCCTGCCTTCCTCCTGCCCTATATTCACCCACGGGGCCCTGCTCTTCCAGGGGATCCATCAGCATCTAATGCCCTGTCCTGCACCTCAGCTATGTCTGCCTCCTTTCTTCTTCCCCCAGCAGTTCTCAGGCTGGGCATGCCATGAAAGTGGGAGGGGCTTGCCCATAGAGTGAAACCCTAGGTAAGGATAGGGCCAGGGGAGGTTGGAATTGGGAATGGGAATCTGAAAAAGAAGGGAAGCTAAGGGCACTGAGGAATTTGGAGCGGGGGGGCTTTGGGCTGGGATAGGGCAGTGTTGGCAAGGACAGGCGAGGAGGGTATGCTGACCTTGCCAGGGAAATAGGAGCTGTTCTTGAACTTGCGCAGCATCATGGCAAAGAAGAAGGTACCGGCCATGAGCACAAGGGAGAGGAGGGCTGTGTTGGGCAGGGGGCCCTGAGGTTTGGGCACCATCAACACGTTGTAGTTATAAGTCTTCTGTAGTGGGTGGTCCTGGAAGATCTGCAGCAGAAAACCAAGGCATTCTGTTCTCTCCCAGCTTTGGCTTGGGCTGGAAAATACCACCAGCTAACTCTACCCAGCACTACTATCCATTCATCCAGTCATCTATTAATTCATCATCCATCCATTTATCCACCCATCCATCATTCATCTATCCATTATCCATTGATCATCCATTGATTATTCATCCATCCATTCATTATCCATCTACCCATCCATCCACCTACCTATCATCTATCAACCCATTTATCCATCCATTCATCCGTCCATCATCCACCCACTCATTCATCAATCATCCATCCATCCAACCATCCATCCATCCATCCATCCGTCCATCCATTATCCATCTATTCATCCATCCATCCATCTATCTTCTTCCTCAATTGACATGGAAACAGAGGATAAATGGGATTCTACAGCTTGGTTTTCAGGAATGAAGACAGCCTAGGTTTAGGCAGGGAGGGCCATGGAAGGCAATGGGTGTGTGTGCGAGCACACATGTACACCCAGGACCTGGGAGACATGAGAAGGCTGGAGGTCAGGAAACAAGGGTCAGGGAAGTTTCTAACAAGGGGTTAAAAGACCTGGACACAGAAAGACCCTCCATCCAACAGAATCAGGGGACAACACATAGGGCTCACCCTTCTCCCATATAAAATGCAGGTACAAAGGCAAGCAGAGCTTAAGATGATGGGAGCCAAGCCAAGGTGGCTGGGCACTCCATCCACAAGCCCTGCAGCTCTTGAGGACAAGCACAGGGGAGGGAGTGGGGGACTTCAGAGGCTCCAGAGTCCCCCCAGCTCTCACTGTGCATGTACTTTCACATGCTCAGTGTCATGCCCATACCTACCCATTGCTCACGTCATGTGTGGTCATGAACTGGACATGTGCACACAGAGGCACCCTCTCATGCCTCAGCAAGAGTGCTGGCCACAGGCAGCAGGTGCCAACACATATGTGGTCACAGTCAACACAGCTGCACAGTCCTGTGTGCAGATGTGTGACTACACAGACATAGACACATATGTTGACACAGACACATATGTTGTCACAGTCATGTGCACAGTCACATGGTTATGTACACAGGTGAAAGCAAAGACACACAAATGCTGCACAGACACATGTGCGAGGACACAATGGCTCAGTCTTTTTTTTTTTTTTTTGAGACGGATTCTTGCTCTGTTGCCCAGGCTGGAGTGTAGTGGCACAATCTCGGCTCACTGCAACCTCCACCTCCCGGGTTCAAGCAGTTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGATGCATGCCACCACATCTGGCTGATTTTTGTATTTTTAATAGAGATGGAGTTTCACAATGTTGGTCAGGCTGGTCTTGAACTCCTGATCTCGGGTGATCCACCTGCCTCGGCCTCCCAAAGTTCTGAGATTACAGGCCTGAGCCCTCGCACCCGGCCACTGTCTCAGTCTTATACACAACCTCCCGTGTGCATTAACATCCCCATAGGCCCCCACCTTGATCAGCTTGGAGAAAGTCTCATAGATGAAGATGAGGGAAATGAGGAAGGAGAAGATCTCCTGGGTATAGCGGGAGATGAAGCGGACCAGGAAGCTACCCTCGAAGGCCACCACCAACACCACCAGCAGGATGAGCCAGAAGCCGATCCACACGCGGCCCACGATGTACTCTAGACCGTTGGTCTCGCAGAACTGCAGGGTGGTCAGAAGAAGCCGGTCAGTCAAAGGGTCTTGGGGCAAGGCACCATGCATCAGGCAGGTGGTGCGGGGGACATGACAGGGTCAGTGGGGCAAGGACAGAACTACCGAGAAGAAGGCTTCCTCAAACACCAGCAGGGGTCCTGAGAAGCCGACCACAAGCAGGGGCTGAGCCCCCAGCAGGGCGAAGAGAATGCCCTGCAC
CATTTTGCATTTTTTTTTCTTTTTCTTTTTTTTCCTAGAGTCTTGCTCTGTCGCCCAGGCTGGAGTGCAGTGGTGCGATTTTGGCTCACTGCAACCTCTGCCTCCCGGGTTCAAGTGATTTTCCTGCTTCAGCCTCCCAAGTAGCTGGGACTACGGGCACATGCCACCACACTCGGTTAATTTTTGTATTTTTAGTAGAAACGGGGTTTCACCATATTAGTCAGGCTGGTCTCAAACTACTGACCTCGTGATCCCCCCGTCTTGGCTTCCCAAAGTGCTAGGATTACAGATGTGAGCCACCTCACCTGGCGCTTTTTTTTTTTTTTTTTTTTTGAGATGGAGTTTCACTCTCGTTGCCCAAGTTGGAGTGCAATGGCGAGATCTCGGCTCACTGCAACCTCCGCCTCCCGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCAAGTAGCTGAGATTACAGGCTCGTGCCACCATGCCCGCCTAATTTTTTGTATTTTTAGTAGAAACAGGGCTTCACCATGTTAGCCAAGCTGGTCTCGAACTCCTGACCTCAGGTGATCTGCCCGCCTCGGCCTCTCAAACTGTTGGGATTACGGGCGTGAGCCACCGCGCCCGGCCACGTTTTTTTTTTCTTAAAAAGAGCTCTCCAAATTATACAACTTCTGGTCCCACAAAACCTGGAACTGCCCCTGGCTTTTCACTATTCCTGCTAGTCGGGAGGGCCACACACCCGCAGGGACTAGCTTGCAGTCCTGGGTCTCTTGCCTGCCTGGGAGAATGCCAGGGAAAGGTCCCTGCCTCCCACCCTCCCAGGCCCAGCCCCCACCCTGTCTCTCACGTGGTGATCTGAGACTCCAGGAATATGAGGATGAAGACCAGCAGAGCAGGCAGGGCGGAGGCAAACATCATCCAGATGGGAAACTCGGAACGCAAGCCCAGTGGGTGGATGACCCAGCCCCGGGCTGAGGAGTTGGACACCTTGAAGCCATCAGGCACCGAGAGTTTCTGTGGGAGGGGGTAGCAGGTAAGAATGCCAAGGGCAGGAGGATGGGGAAGGGTGGGAGCAGGAGGAGCCAGGGTCCTAGGGGTCGGGCAGTTAGGTTGGAGGCACTTGGGAACTTACTTATATTGAGCACTTGCTCTGTACCTAATCATTACACTAATCCCTTTACATCCATCTGCTCGTTCCCCACTTTAAAGATGAGGAAAGAGAATCAGAGAGGTTATGTAGCTTGCCCCACATCACACAGCTATTTGATGGCAGAGCTGGGATTCATGCCTAGATCTGCCTGGCTCCAAAGAATACTTCTTCCTACTGCTCTGGGTTAAGGAATGAAGGTGGCAACCTGGCCCAGCACCTTGCTTTGGCCACAGGGGTCCTCTGGGGCTGTGAGAAGCACATGGGACTCCCAGAGGAGGCAGGGATGGGGTAGAGGTAGTCCCAGCTGGCTTCAGGTTGGGGAAAGCTATTCTAGGGAAGGGGCATGCTGGGGGGTGGAAATGAGGACCTGGGGGGTATCATGGTCTGAGGGCTGGGAGGAGGGGTCACCTGGGTGTAGGTATCCTGAATGAAGAAATCCACCAGGACCATGATCAGGATGGAGATGGGGACCCCGAAGTCCCCGATGACCCGACGCAGCTGGGGGCAGGTGAAAGGACCAGTGGTCAGTGCCCAGTCACTCCCCACCTCCTGCCTTCCTCCTGCCCTATATTCACCCACGGGGCCCTGCTCTTCCAGGGGATCCATCAGCATCTAATGCCCTGTCCTGCACCTCAGCTATGTCTGCCTCCTTTCTTCTTCCCCCAGCAGTTCTCAGGCTGGGCATGCCATGAAAGTGGGAGGGGCTTGCCCATAGAGTGAAACCCTAGGTAAGGATAGGGCCAGGGGAGGTTGGAATTGGGAATGGGAATCTGAAAAAGAAGGGAAGCTAAGGGCACTGAGGAATTTGGAGCGGGGGGGCTTTGGGCTGGGATAGGGCAGTGTTGGCAAGGACAGGCGAGGAGGGTATGCTGACCTTGCCAGGGAAATAGGAGCTGTTCTTGAACTTGTGCAGCATCATGGCAAAGAAGAAGGTACCGGCCATGAGCACAAGGGAGAGGAGGGCTGTGTTGGGCAGGGGGCCCTGAGGTTTGGGCACCATCAACACGTTGTAGTTATAAGTCTTCTGTAGTGGGTGGTCCTGGAAGATCTGCAGCAGAAAACCAAGGCATTCTGTTCTCTCCCAGCTTTGGCTTGGGCTGGAAAATACCACCAGCTAACTCTACCCAGCACTACTATCCATTCATCCAGTCATCTATTAATTCATCATCCATCCATTTATCCACCCATCCATCATTCATCTATCCATTATCCATTGATCATCCATTGATTATTCATCCATCCATTCATTATCCATCTACCCATCCATCCACCTACCTATCATCTATCAACCCATTTATCCATCCATTCATCCGTCCATCATCCACCCACTCATTCATCAATCATCCATCCATCCAACCATCCATCCATCCATCCATCCGTCCATCCATTATCCATCTATTCATCCATCCATCCATCTATCTTCTTCCTCAATTGACATGGAAACAGAGGATAAATGGGATTCTACAGCTTGGTTTTCAGGAATGAAGACAGCCTAGGTTTAGGCAGGGAGGGCCATGGAAGGCAATGGGTGTGTGTGCGAGCACACATGTACACCCAGGACCTGGGAGACATGAGAAGGCTGGAGGTCAGGAAACAAGGGTCAGGGAAGTTTCTAACAAGGGGTTAAAAGACCTGGACACAGAAAGACCCTCCATCCAACAGAATCAGGGGACAACACATAGGGCTCACCCTTCTCCCATATAAAATGCAGGTACAAAGGCAAGCAGAGCTTAAGATGATGGGAGCCAAGCCAAGGTGGCTGGGCACTCCATCCACAAGCCCTGCAGCTCTTGAGGACAAGCACAGGGGAGGGAGTGGGGGACTTCAGAGGCTCCAGAGTCCCCCCAGCTCTCACTGTGCATGTACTTTCACATGCTCAGTGTCATGCCCATACCTACCCATTGCTCACGTCATGTGTGGTCATGAACTGGACATGTGCACACAGAGGCACCCTCTCATGCCTCAGCAAGAGTGCTGGCCACAGGCAGCAGGTGCCAACACATATGTGGTCACAGTCAACACAGCTGCACAGTCCTGTGTGCAGATGTGTGACTACACAGACATAGACACATATGTTGACACAGACACATATGTTGTCACAGTCATGTGCACAGTCACATGGTTATGTACACAGGTGAAAGCAAAGACACACAAATGCTGCACAGACACATGTGCGAGGACACAATGGCTCAGTCTTTTTTTTTTTTTTTTGAGACGGATTCTTGCTCTGTTGCCCAGGCTGGAGTGTAGTGGCACAATCTCGGCTCACTGCAACCTCCACCTCCCGGGTTCAAGCAGTTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGATGCATGCCACCACATCTGGCTGATTTTTGTATTTTTAATAGAGATGGAGTTTCACAATGTTGGTCAGGCTGGTCTTGAACTCCTGATCTCGGGTGATCCACCTGCCTCGGCCTCCCAAAGTTCTGAGATTACAGGCCTGAGCCCTCGCACCCGGCCACTGTCTCAGTCTTATACACAACCTCCCGTGTGCATTAACATCCCCATAGGCCCCCACCTTGATCAGCTTGGAGAAAGTCTCATAGATGAAGATGAGGGAAATGAGGAAGGAGAAGATCTCCTGGGTATAGCGGGAGATGAAGCGGACCAGGAAGCTACCCTCGAAGGCCACCACCAACACCACCAGCAGGATGAGCCAGAAGCCGATCCACACGCGGCCCACGATGTACTCTAGACCGTTGGTCTCGCAGAACTGCAGGGTGGTCAGAAGAAGCCGGTCAGTCAAAGGGTCTTGGGGCAAGGCACCATGCATCAGGCAGGTGGTGCGGGGGACATGACAGGGTCAGTGGGGCAAGGACAGAACTACCGAGAAGAAGGCTTCCTCAAACACCAGCAGGGGTCCTGAGAAGCCGACCACAAGCAGGGGCTGAGCCCCCAGCAGGGCGAAGAGAATGCCCTGCAC
Task1_train_24707
This alteration in SLC4A1 (solute carrier family 4 member 1 (Diego blood group)) on Chromosome 17 may affect gene function. Does it lead to a disease or is it benign?
Pathogenic; Malaria, susceptibility to
CATTTTGCATTTTTTTTTCTTTTTCTTTTTTTTCCTAGAGTCTTGCTCTGTCGCCCAGGCTGGAGTGCAGTGGTGCGATTTTGGCTCACTGCAACCTCTGCCTCCCGGGTTCAAGTGATTTTCCTGCTTCAGCCTCCCAAGTAGCTGGGACTACGGGCACATGCCACCACACTCGGTTAATTTTTGTATTTTTAGTAGAAACGGGGTTTCACCATATTAGTCAGGCTGGTCTCAAACTACTGACCTCGTGATCCCCCCGTCTTGGCTTCCCAAAGTGCTAGGATTACAGATGTGAGCCACCTCACCTGGCGCTTTTTTTTTTTTTTTTTTTTTGAGATGGAGTTTCACTCTCGTTGCCCAAGTTGGAGTGCAATGGCGAGATCTCGGCTCACTGCAACCTCCGCCTCCCGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCAAGTAGCTGAGATTACAGGCTCGTGCCACCATGCCCGCCTAATTTTTTGTATTTTTAGTAGAAACAGGGCTTCACCATGTTAGCCAAGCTGGTCTCGAACTCCTGACCTCAGGTGATCTGCCCGCCTCGGCCTCTCAAACTGTTGGGATTACGGGCGTGAGCCACCGCGCCCGGCCACGTTTTTTTTTTCTTAAAAAGAGCTCTCCAAATTATACAACTTCTGGTCCCACAAAACCTGGAACTGCCCCTGGCTTTTCACTATTCCTGCTAGTCGGGAGGGCCACACACCCGCAGGGACTAGCTTGCAGTCCTGGGTCTCTTGCCTGCCTGGGAGAATGCCAGGGAAAGGTCCCTGCCTCCCACCCTCCCAGGCCCAGCCCCCACCCTGTCTCTCACGTGGTGATCTGAGACTCCAGGAATATGAGGATGAAGACCAGCAGAGCAGGCAGGGCGGAGGCAAACATCATCCAGATGGGAAACTCGGAACGCAAGCCCAGTGGGTGGATGACCCAGCCCCGGGCTGAGGAGTTGGACACCTTGAAGCCATCAGGCACCGAGAGTTTCTGTGGGAGGGGGTAGCAGGTAAGAATGCCAAGGGCAGGAGGATGGGGAAGGGTGGGAGCAGGAGGAGCCAGGGTCCTAGGGGTCGGGCAGTTAGGTTGGAGGCACTTGGGAACTTACTTATATTGAGCACTTGCTCTGTACCTAATCATTACACTAATCCCTTTACATCCATCTGCTCGTTCCCCACTTTAAAGATGAGGAAAGAGAATCAGAGAGGTTATGTAGCTTGCCCCACATCACACAGCTATTTGATGGCAGAGCTGGGATTCATGCCTAGATCTGCCTGGCTCCAAAGAATACTTCTTCCTACTGCTCTGGGTTAAGGAATGAAGGTGGCAACCTGGCCCAGCACCTTGCTTTGGCCACAGGGGTCCTCTGGGGCTGTGAGAAGCACATGGGACTCCCAGAGGAGGCAGGGATGGGGTAGAGGTAGTCCCAGCTGGCTTCAGGTTGGGGAAAGCTATTCTAGGGAAGGGGCATGCTGGGGGGTGGAAATGAGGACCTGGGGGGTATCATGGTCTGAGGGCTGGGAGGAGGGGTCACCTGGGTGTAGGTATCCTGAATGAAGAAATCCACCAGGACCATGATCAGGATGGAGATGGGGACCCCGAAGTCCCCGATGACCCGACGCAGCTGGGGGCAGGTGAAAGGACCAGTGGTCAGTGCCCAGTCACTCCCCACCTCCTGCCTTCCTCCTGCCCTATATTCACCCACGGGGCCCTGCTCTTCCAGGGGATCCATCAGCATCTAATGCCCTGTCCTGCACCTCAGCTATGTCTGCCTCCTTTCTTCTTCCCCCAGCAGTTCTCAGGCTGGGCATGCCATGAAAGTGGGAGGGGCTTGCCCATAGAGTGAAACCCTAGGTAAGGATAGGGCCAGGGGAGGTTGGAATTGGGAATGGGAATCTGAAAAAGAAGGGAAGCTAAGGGCACTGAGGAATTTGGAGCGGGGGGGCTTTGGGCTGGGATAGGGCAGTGTTGGCAAGGACAGGCGAGGAGGGTATGCTGACCTTGCCAGGGAAATAGGAGCTGTTCTTGAACTTGCGCAGCATCATGGCAAAGAAGAAGGTACCGGCCATGAGCACAAGGGAGAGGAGGGCTGTGTTGGGCAGGGGGCCCTGAGGTTTGGGCACCATCAACACGTTGTAGTTATAAGTCTTCTGTAGTGGGTGGTCCTGGAAGATCTGCAGCAGAAAACCAAGGCATTCTGTTCTCTCCCAGCTTTGGCTTGGGCTGGAAAATACCACCAGCTAACTCTACCCAGCACTACTATCCATTCATCCAGTCATCTATTAATTCATCATCCATCCATTTATCCACCCATCCATCATTCATCTATCCATTATCCATTGATCATCCATTGATTATTCATCCATCCATTCATTATCCATCTACCCATCCATCCACCTACCTATCATCTATCAACCCATTTATCCATCCATTCATCCGTCCATCATCCACCCACTCATTCATCAATCATCCATCCATCCAACCATCCATCCATCCATCCATCCGTCCATCCATTATCCATCTATTCATCCATCCATCCATCTATCTTCTTCCTCAATTGACATGGAAACAGAGGATAAATGGGATTCTACAGCTTGGTTTTCAGGAATGAAGACAGCCTAGGTTTAGGCAGGGAGGGCCATGGAAGGCAATGGGTGTGTGTGCGAGCACACATGTACACCCAGGACCTGGGAGACATGAGAAGGCTGGAGGTCAGGAAACAAGGGTCAGGGAAGTTTCTAACAAGGGGTTAAAAGACCTGGACACAGAAAGACCCTCCATCCAACAGAATCAGGGGACAACACATAGGGCTCACCCTTCTCCCATATAAAATGCAGGTACAAAGGCAAGCAGAGCTTAAGATGATGGGAGCCAAGCCAAGGTGGCTGGGCACTCCATCCACAAGCCCTGCAGCTCTTGAGGACAAGCACAGGGGAGGGAGTGGGGGACTTCAGAGGCTCCAGAGTCCCCCCAGCTCTCACTGTGCATGTACTTTCACATGCTCAGTGTCATGCCCATACCTACCCATTGCTCACGTCATGTGTGGTCATGAACTGGACATGTGCACACAGAGGCACCCTCTCATGCCTCAGCAAGAGTGCTGGCCACAGGCAGCAGGTGCCAACACATATGTGGTCACAGTCAACACAGCTGCACAGTCCTGTGTGCAGATGTGTGACTACACAGACATAGACACATATGTTGACACAGACACATATGTTGTCACAGTCATGTGCACAGTCACATGGTTATGTACACAGGTGAAAGCAAAGACACACAAATGCTGCACAGACACATGTGCGAGGACACAATGGCTCAGTCTTTTTTTTTTTTTTTTGAGACGGATTCTTGCTCTGTTGCCCAGGCTGGAGTGTAGTGGCACAATCTCGGCTCACTGCAACCTCCACCTCCCGGGTTCAAGCAGTTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGATGCATGCCACCACATCTGGCTGATTTTTGTATTTTTAATAGAGATGGAGTTTCACAATGTTGGTCAGGCTGGTCTTGAACTCCTGATCTCGGGTGATCCACCTGCCTCGGCCTCCCAAAGTTCTGAGATTACAGGCCTGAGCCCTCGCACCCGGCCACTGTCTCAGTCTTATACACAACCTCCCGTGTGCATTAACATCCCCATAGGCCCCCACCTTGATCAGCTTGGAGAAAGTCTCATAGATGAAGATGAGGGAAATGAGGAAGGAGAAGATCTCCTGGGTATAGCGGGAGATGAAGCGGACCAGGAAGCTACCCTCGAAGGCCACCACCAACACCACCAGCAGGATGAGCCAGAAGCCGATCCACACGCGGCCCACGATGTACTCTAGACCGTTGGTCTCGCAGAACTGCAGGGTGGTCAGAAGAAGCCGGTCAGTCAAAGGGTCTTGGGGCAAGGCACCATGCATCAGGCAGGTGGTGCGGGGGACATGACAGGGTCAGTGGGGCAAGGACAGAACTACCGAGAAGAAGGCTTCCTCAAACACCAGCAGGGGTCCTGAGAAGCCGACCACAAGCAGGGGCTGAGCCCCCAGCAGGGCGAAGAGAATGCCCTGCAC
CATTTTGCATTTTTTTTTCTTTTTCTTTTTTTTCCTAGAGTCTTGCTCTGTCGCCCAGGCTGGAGTGCAGTGGTGCGATTTTGGCTCACTGCAACCTCTGCCTCCCGGGTTCAAGTGATTTTCCTGCTTCAGCCTCCCAAGTAGCTGGGACTACGGGCACATGCCACCACACTCGGTTAATTTTTGTATTTTTAGTAGAAACGGGGTTTCACCATATTAGTCAGGCTGGTCTCAAACTACTGACCTCGTGATCCCCCCGTCTTGGCTTCCCAAAGTGCTAGGATTACAGATGTGAGCCACCTCACCTGGCGCTTTTTTTTTTTTTTTTTTTTTGAGATGGAGTTTCACTCTCGTTGCCCAAGTTGGAGTGCAATGGCGAGATCTCGGCTCACTGCAACCTCCGCCTCCCGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCAAGTAGCTGAGATTACAGGCTCGTGCCACCATGCCCGCCTAATTTTTTGTATTTTTAGTAGAAACAGGGCTTCACCATGTTAGCCAAGCTGGTCTCGAACTCCTGACCTCAGGTGATCTGCCCGCCTCGGCCTCTCAAACTGTTGGGATTACGGGCGTGAGCCACCGCGCCCGGCCACGTTTTTTTTTTCTTAAAAAGAGCTCTCCAAATTATACAACTTCTGGTCCCACAAAACCTGGAACTGCCCCTGGCTTTTCACTATTCCTGCTAGTCGGGAGGGCCACACACCCGCAGGGACTAGCTTGCAGTCCTGGGTCTCTTGCCTGCCTGGGAGAATGCCAGGGAAAGGTCCCTGCCTCCCACCCTCCCAGGCCCAGCCCCCACCCTGTCTCTCACGTGGTGATCTGAGACTCCAGGAATATGAGGATGAAGACCAGCAGAGCAGGCAGGGCGGAGGCAAACATCATCCAGATGGGAAACTCGGAACGCAAGCCCAGTGGGTGGATGACCCAGCCCCGGGCTGAGGAGTTGGACACCTTGAAGCCATCAGGCACCGAGAGTTTCTGTGGGAGGGGGTAGCAGGTAAGAATGCCAAGGGCAGGAGGATGGGGAAGGGTGGGAGCAGGAGGAGCCAGGGTCCTAGGGGTCGGGCAGTTAGGTTGGAGGCACTTGGGAACTTACTTATATTGAGCACTTGCTCTGTACCTAATCATTACACTAATCCCTTTACATCCATCTGCTCGTTCCCCACTTTAAAGATGAGGAAAGAGAATCAGAGAGGTTATGTAGCTTGCCCCACATCACACAGCTATTTGATGGCAGAGCTGGGATTCATGCCTAGATCTGCCTGGCTCCAAAGAATACTTCTTCCTACTGCTCTGGGTTAAGGAATGAAGGTGGCAACCTGGCCCAGCACCTTGCTTTGGCCACAGGGGTCCTCTGGGGCTGTGAGAAGCACATGGGACTCCCAGAGGAGGCAGGGATGGGGTAGAGGTAGTCCCAGCTGGCTTCAGGTTGGGGAAAGCTATTCTAGGGAAGGGGCATGCTGGGGGGTGGAAATGAGGACCTGGGGGGTATCATGGTCTGAGGGCTGGGAGGAGGGGTCACCTGGGTGTAGGTATCCTGAATGAAGAAATCCACCAGGACCATGATCAGGATGGAGATGGGGACCCCGAAGTCCCCGATGACCCGACGCAGCTGGGGGCAGGTGAAAGGACCAGTGGTCAGTGCCCAGTCACTCCCCACCTCCTGCCTTCCTCCTGCCCTATATTCACCCACGGGGCCCTGCTCTTCCAGGGGATCCATCAGCATCTAATGCCCTGTCCTGCACCTCAGCTATGTCTGCCTCCTTTCTTCTTCCCCCAGCAGTTCTCAGGCTGGGCATGCCATGAAAGTGGGAGGGGCTTGCCCATAGAGTGAAACCCTAGGTAAGGATAGGGCCAGGGGAGGTTGGAATTGGGAATGGGAATCTGAAAAAGAAGGGAAGCTAAGGGCACTGAGGAATTTGGAGCGGGGGGGCTTTGGGCTGGGATAGGGCAGTGTTGGCAAGGACAGGCGAGGAGGGTATGCTGACCTTGCCAGGGAAATAGGAGCTGTTCTTGAACTTGTGCAGCATCATGGCAAAGAAGAAGGTACCGGCCATGAGCACAAGGGAGAGGAGGGCTGTGTTGGGCAGGGGGCCCTGAGGTTTGGGCACCATCAACACGTTGTAGTTATAAGTCTTCTGTAGTGGGTGGTCCTGGAAGATCTGCAGCAGAAAACCAAGGCATTCTGTTCTCTCCCAGCTTTGGCTTGGGCTGGAAAATACCACCAGCTAACTCTACCCAGCACTACTATCCATTCATCCAGTCATCTATTAATTCATCATCCATCCATTTATCCACCCATCCATCATTCATCTATCCATTATCCATTGATCATCCATTGATTATTCATCCATCCATTCATTATCCATCTACCCATCCATCCACCTACCTATCATCTATCAACCCATTTATCCATCCATTCATCCGTCCATCATCCACCCACTCATTCATCAATCATCCATCCATCCAACCATCCATCCATCCATCCATCCGTCCATCCATTATCCATCTATTCATCCATCCATCCATCTATCTTCTTCCTCAATTGACATGGAAACAGAGGATAAATGGGATTCTACAGCTTGGTTTTCAGGAATGAAGACAGCCTAGGTTTAGGCAGGGAGGGCCATGGAAGGCAATGGGTGTGTGTGCGAGCACACATGTACACCCAGGACCTGGGAGACATGAGAAGGCTGGAGGTCAGGAAACAAGGGTCAGGGAAGTTTCTAACAAGGGGTTAAAAGACCTGGACACAGAAAGACCCTCCATCCAACAGAATCAGGGGACAACACATAGGGCTCACCCTTCTCCCATATAAAATGCAGGTACAAAGGCAAGCAGAGCTTAAGATGATGGGAGCCAAGCCAAGGTGGCTGGGCACTCCATCCACAAGCCCTGCAGCTCTTGAGGACAAGCACAGGGGAGGGAGTGGGGGACTTCAGAGGCTCCAGAGTCCCCCCAGCTCTCACTGTGCATGTACTTTCACATGCTCAGTGTCATGCCCATACCTACCCATTGCTCACGTCATGTGTGGTCATGAACTGGACATGTGCACACAGAGGCACCCTCTCATGCCTCAGCAAGAGTGCTGGCCACAGGCAGCAGGTGCCAACACATATGTGGTCACAGTCAACACAGCTGCACAGTCCTGTGTGCAGATGTGTGACTACACAGACATAGACACATATGTTGACACAGACACATATGTTGTCACAGTCATGTGCACAGTCACATGGTTATGTACACAGGTGAAAGCAAAGACACACAAATGCTGCACAGACACATGTGCGAGGACACAATGGCTCAGTCTTTTTTTTTTTTTTTTGAGACGGATTCTTGCTCTGTTGCCCAGGCTGGAGTGTAGTGGCACAATCTCGGCTCACTGCAACCTCCACCTCCCGGGTTCAAGCAGTTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGATGCATGCCACCACATCTGGCTGATTTTTGTATTTTTAATAGAGATGGAGTTTCACAATGTTGGTCAGGCTGGTCTTGAACTCCTGATCTCGGGTGATCCACCTGCCTCGGCCTCCCAAAGTTCTGAGATTACAGGCCTGAGCCCTCGCACCCGGCCACTGTCTCAGTCTTATACACAACCTCCCGTGTGCATTAACATCCCCATAGGCCCCCACCTTGATCAGCTTGGAGAAAGTCTCATAGATGAAGATGAGGGAAATGAGGAAGGAGAAGATCTCCTGGGTATAGCGGGAGATGAAGCGGACCAGGAAGCTACCCTCGAAGGCCACCACCAACACCACCAGCAGGATGAGCCAGAAGCCGATCCACACGCGGCCCACGATGTACTCTAGACCGTTGGTCTCGCAGAACTGCAGGGTGGTCAGAAGAAGCCGGTCAGTCAAAGGGTCTTGGGGCAAGGCACCATGCATCAGGCAGGTGGTGCGGGGGACATGACAGGGTCAGTGGGGCAAGGACAGAACTACCGAGAAGAAGGCTTCCTCAAACACCAGCAGGGGTCCTGAGAAGCCGACCACAAGCAGGGGCTGAGCCCCCAGCAGGGCGAAGAGAATGCCCTGCAC
Task1_train_24708
The variant affects gene SLC4A1 (solute carrier family 4 member 1 (Diego blood group)), which is on Chromosome 17. Please evaluate whether this mutation is benign or pathogenic and specify the disease if necessary.
Pathogenic; BLOOD GROUP--DIEGO SYSTEM
CATTTTGCATTTTTTTTTCTTTTTCTTTTTTTTCCTAGAGTCTTGCTCTGTCGCCCAGGCTGGAGTGCAGTGGTGCGATTTTGGCTCACTGCAACCTCTGCCTCCCGGGTTCAAGTGATTTTCCTGCTTCAGCCTCCCAAGTAGCTGGGACTACGGGCACATGCCACCACACTCGGTTAATTTTTGTATTTTTAGTAGAAACGGGGTTTCACCATATTAGTCAGGCTGGTCTCAAACTACTGACCTCGTGATCCCCCCGTCTTGGCTTCCCAAAGTGCTAGGATTACAGATGTGAGCCACCTCACCTGGCGCTTTTTTTTTTTTTTTTTTTTTGAGATGGAGTTTCACTCTCGTTGCCCAAGTTGGAGTGCAATGGCGAGATCTCGGCTCACTGCAACCTCCGCCTCCCGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCAAGTAGCTGAGATTACAGGCTCGTGCCACCATGCCCGCCTAATTTTTTGTATTTTTAGTAGAAACAGGGCTTCACCATGTTAGCCAAGCTGGTCTCGAACTCCTGACCTCAGGTGATCTGCCCGCCTCGGCCTCTCAAACTGTTGGGATTACGGGCGTGAGCCACCGCGCCCGGCCACGTTTTTTTTTTCTTAAAAAGAGCTCTCCAAATTATACAACTTCTGGTCCCACAAAACCTGGAACTGCCCCTGGCTTTTCACTATTCCTGCTAGTCGGGAGGGCCACACACCCGCAGGGACTAGCTTGCAGTCCTGGGTCTCTTGCCTGCCTGGGAGAATGCCAGGGAAAGGTCCCTGCCTCCCACCCTCCCAGGCCCAGCCCCCACCCTGTCTCTCACGTGGTGATCTGAGACTCCAGGAATATGAGGATGAAGACCAGCAGAGCAGGCAGGGCGGAGGCAAACATCATCCAGATGGGAAACTCGGAACGCAAGCCCAGTGGGTGGATGACCCAGCCCCGGGCTGAGGAGTTGGACACCTTGAAGCCATCAGGCACCGAGAGTTTCTGTGGGAGGGGGTAGCAGGTAAGAATGCCAAGGGCAGGAGGATGGGGAAGGGTGGGAGCAGGAGGAGCCAGGGTCCTAGGGGTCGGGCAGTTAGGTTGGAGGCACTTGGGAACTTACTTATATTGAGCACTTGCTCTGTACCTAATCATTACACTAATCCCTTTACATCCATCTGCTCGTTCCCCACTTTAAAGATGAGGAAAGAGAATCAGAGAGGTTATGTAGCTTGCCCCACATCACACAGCTATTTGATGGCAGAGCTGGGATTCATGCCTAGATCTGCCTGGCTCCAAAGAATACTTCTTCCTACTGCTCTGGGTTAAGGAATGAAGGTGGCAACCTGGCCCAGCACCTTGCTTTGGCCACAGGGGTCCTCTGGGGCTGTGAGAAGCACATGGGACTCCCAGAGGAGGCAGGGATGGGGTAGAGGTAGTCCCAGCTGGCTTCAGGTTGGGGAAAGCTATTCTAGGGAAGGGGCATGCTGGGGGGTGGAAATGAGGACCTGGGGGGTATCATGGTCTGAGGGCTGGGAGGAGGGGTCACCTGGGTGTAGGTATCCTGAATGAAGAAATCCACCAGGACCATGATCAGGATGGAGATGGGGACCCCGAAGTCCCCGATGACCCGACGCAGCTGGGGGCAGGTGAAAGGACCAGTGGTCAGTGCCCAGTCACTCCCCACCTCCTGCCTTCCTCCTGCCCTATATTCACCCACGGGGCCCTGCTCTTCCAGGGGATCCATCAGCATCTAATGCCCTGTCCTGCACCTCAGCTATGTCTGCCTCCTTTCTTCTTCCCCCAGCAGTTCTCAGGCTGGGCATGCCATGAAAGTGGGAGGGGCTTGCCCATAGAGTGAAACCCTAGGTAAGGATAGGGCCAGGGGAGGTTGGAATTGGGAATGGGAATCTGAAAAAGAAGGGAAGCTAAGGGCACTGAGGAATTTGGAGCGGGGGGGCTTTGGGCTGGGATAGGGCAGTGTTGGCAAGGACAGGCGAGGAGGGTATGCTGACCTTGCCAGGGAAATAGGAGCTGTTCTTGAACTTGCGCAGCATCATGGCAAAGAAGAAGGTACCGGCCATGAGCACAAGGGAGAGGAGGGCTGTGTTGGGCAGGGGGCCCTGAGGTTTGGGCACCATCAACACGTTGTAGTTATAAGTCTTCTGTAGTGGGTGGTCCTGGAAGATCTGCAGCAGAAAACCAAGGCATTCTGTTCTCTCCCAGCTTTGGCTTGGGCTGGAAAATACCACCAGCTAACTCTACCCAGCACTACTATCCATTCATCCAGTCATCTATTAATTCATCATCCATCCATTTATCCACCCATCCATCATTCATCTATCCATTATCCATTGATCATCCATTGATTATTCATCCATCCATTCATTATCCATCTACCCATCCATCCACCTACCTATCATCTATCAACCCATTTATCCATCCATTCATCCGTCCATCATCCACCCACTCATTCATCAATCATCCATCCATCCAACCATCCATCCATCCATCCATCCGTCCATCCATTATCCATCTATTCATCCATCCATCCATCTATCTTCTTCCTCAATTGACATGGAAACAGAGGATAAATGGGATTCTACAGCTTGGTTTTCAGGAATGAAGACAGCCTAGGTTTAGGCAGGGAGGGCCATGGAAGGCAATGGGTGTGTGTGCGAGCACACATGTACACCCAGGACCTGGGAGACATGAGAAGGCTGGAGGTCAGGAAACAAGGGTCAGGGAAGTTTCTAACAAGGGGTTAAAAGACCTGGACACAGAAAGACCCTCCATCCAACAGAATCAGGGGACAACACATAGGGCTCACCCTTCTCCCATATAAAATGCAGGTACAAAGGCAAGCAGAGCTTAAGATGATGGGAGCCAAGCCAAGGTGGCTGGGCACTCCATCCACAAGCCCTGCAGCTCTTGAGGACAAGCACAGGGGAGGGAGTGGGGGACTTCAGAGGCTCCAGAGTCCCCCCAGCTCTCACTGTGCATGTACTTTCACATGCTCAGTGTCATGCCCATACCTACCCATTGCTCACGTCATGTGTGGTCATGAACTGGACATGTGCACACAGAGGCACCCTCTCATGCCTCAGCAAGAGTGCTGGCCACAGGCAGCAGGTGCCAACACATATGTGGTCACAGTCAACACAGCTGCACAGTCCTGTGTGCAGATGTGTGACTACACAGACATAGACACATATGTTGACACAGACACATATGTTGTCACAGTCATGTGCACAGTCACATGGTTATGTACACAGGTGAAAGCAAAGACACACAAATGCTGCACAGACACATGTGCGAGGACACAATGGCTCAGTCTTTTTTTTTTTTTTTTGAGACGGATTCTTGCTCTGTTGCCCAGGCTGGAGTGTAGTGGCACAATCTCGGCTCACTGCAACCTCCACCTCCCGGGTTCAAGCAGTTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGATGCATGCCACCACATCTGGCTGATTTTTGTATTTTTAATAGAGATGGAGTTTCACAATGTTGGTCAGGCTGGTCTTGAACTCCTGATCTCGGGTGATCCACCTGCCTCGGCCTCCCAAAGTTCTGAGATTACAGGCCTGAGCCCTCGCACCCGGCCACTGTCTCAGTCTTATACACAACCTCCCGTGTGCATTAACATCCCCATAGGCCCCCACCTTGATCAGCTTGGAGAAAGTCTCATAGATGAAGATGAGGGAAATGAGGAAGGAGAAGATCTCCTGGGTATAGCGGGAGATGAAGCGGACCAGGAAGCTACCCTCGAAGGCCACCACCAACACCACCAGCAGGATGAGCCAGAAGCCGATCCACACGCGGCCCACGATGTACTCTAGACCGTTGGTCTCGCAGAACTGCAGGGTGGTCAGAAGAAGCCGGTCAGTCAAAGGGTCTTGGGGCAAGGCACCATGCATCAGGCAGGTGGTGCGGGGGACATGACAGGGTCAGTGGGGCAAGGACAGAACTACCGAGAAGAAGGCTTCCTCAAACACCAGCAGGGGTCCTGAGAAGCCGACCACAAGCAGGGGCTGAGCCCCCAGCAGGGCGAAGAGAATGCCCTGCAC
CATTTTGCATTTTTTTTTCTTTTTCTTTTTTTTCCTAGAGTCTTGCTCTGTCGCCCAGGCTGGAGTGCAGTGGTGCGATTTTGGCTCACTGCAACCTCTGCCTCCCGGGTTCAAGTGATTTTCCTGCTTCAGCCTCCCAAGTAGCTGGGACTACGGGCACATGCCACCACACTCGGTTAATTTTTGTATTTTTAGTAGAAACGGGGTTTCACCATATTAGTCAGGCTGGTCTCAAACTACTGACCTCGTGATCCCCCCGTCTTGGCTTCCCAAAGTGCTAGGATTACAGATGTGAGCCACCTCACCTGGCGCTTTTTTTTTTTTTTTTTTTTTGAGATGGAGTTTCACTCTCGTTGCCCAAGTTGGAGTGCAATGGCGAGATCTCGGCTCACTGCAACCTCCGCCTCCCGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCAAGTAGCTGAGATTACAGGCTCGTGCCACCATGCCCGCCTAATTTTTTGTATTTTTAGTAGAAACAGGGCTTCACCATGTTAGCCAAGCTGGTCTCGAACTCCTGACCTCAGGTGATCTGCCCGCCTCGGCCTCTCAAACTGTTGGGATTACGGGCGTGAGCCACCGCGCCCGGCCACGTTTTTTTTTTCTTAAAAAGAGCTCTCCAAATTATACAACTTCTGGTCCCACAAAACCTGGAACTGCCCCTGGCTTTTCACTATTCCTGCTAGTCGGGAGGGCCACACACCCGCAGGGACTAGCTTGCAGTCCTGGGTCTCTTGCCTGCCTGGGAGAATGCCAGGGAAAGGTCCCTGCCTCCCACCCTCCCAGGCCCAGCCCCCACCCTGTCTCTCACGTGGTGATCTGAGACTCCAGGAATATGAGGATGAAGACCAGCAGAGCAGGCAGGGCGGAGGCAAACATCATCCAGATGGGAAACTCGGAACGCAAGCCCAGTGGGTGGATGACCCAGCCCCGGGCTGAGGAGTTGGACACCTTGAAGCCATCAGGCACCGAGAGTTTCTGTGGGAGGGGGTAGCAGGTAAGAATGCCAAGGGCAGGAGGATGGGGAAGGGTGGGAGCAGGAGGAGCCAGGGTCCTAGGGGTCGGGCAGTTAGGTTGGAGGCACTTGGGAACTTACTTATATTGAGCACTTGCTCTGTACCTAATCATTACACTAATCCCTTTACATCCATCTGCTCGTTCCCCACTTTAAAGATGAGGAAAGAGAATCAGAGAGGTTATGTAGCTTGCCCCACATCACACAGCTATTTGATGGCAGAGCTGGGATTCATGCCTAGATCTGCCTGGCTCCAAAGAATACTTCTTCCTACTGCTCTGGGTTAAGGAATGAAGGTGGCAACCTGGCCCAGCACCTTGCTTTGGCCACAGGGGTCCTCTGGGGCTGTGAGAAGCACATGGGACTCCCAGAGGAGGCAGGGATGGGGTAGAGGTAGTCCCAGCTGGCTTCAGGTTGGGGAAAGCTATTCTAGGGAAGGGGCATGCTGGGGGGTGGAAATGAGGACCTGGGGGGTATCATGGTCTGAGGGCTGGGAGGAGGGGTCACCTGGGTGTAGGTATCCTGAATGAAGAAATCCACCAGGACCATGATCAGGATGGAGATGGGGACCCCGAAGTCCCCGATGACCCGACGCAGCTGGGGGCAGGTGAAAGGACCAGTGGTCAGTGCCCAGTCACTCCCCACCTCCTGCCTTCCTCCTGCCCTATATTCACCCACGGGGCCCTGCTCTTCCAGGGGATCCATCAGCATCTAATGCCCTGTCCTGCACCTCAGCTATGTCTGCCTCCTTTCTTCTTCCCCCAGCAGTTCTCAGGCTGGGCATGCCATGAAAGTGGGAGGGGCTTGCCCATAGAGTGAAACCCTAGGTAAGGATAGGGCCAGGGGAGGTTGGAATTGGGAATGGGAATCTGAAAAAGAAGGGAAGCTAAGGGCACTGAGGAATTTGGAGCGGGGGGGCTTTGGGCTGGGATAGGGCAGTGTTGGCAAGGACAGGCGAGGAGGGTATGCTGACCTTGCCAGGGAAATAGGAGCTGTTCTTGAACTTGTGCAGCATCATGGCAAAGAAGAAGGTACCGGCCATGAGCACAAGGGAGAGGAGGGCTGTGTTGGGCAGGGGGCCCTGAGGTTTGGGCACCATCAACACGTTGTAGTTATAAGTCTTCTGTAGTGGGTGGTCCTGGAAGATCTGCAGCAGAAAACCAAGGCATTCTGTTCTCTCCCAGCTTTGGCTTGGGCTGGAAAATACCACCAGCTAACTCTACCCAGCACTACTATCCATTCATCCAGTCATCTATTAATTCATCATCCATCCATTTATCCACCCATCCATCATTCATCTATCCATTATCCATTGATCATCCATTGATTATTCATCCATCCATTCATTATCCATCTACCCATCCATCCACCTACCTATCATCTATCAACCCATTTATCCATCCATTCATCCGTCCATCATCCACCCACTCATTCATCAATCATCCATCCATCCAACCATCCATCCATCCATCCATCCGTCCATCCATTATCCATCTATTCATCCATCCATCCATCTATCTTCTTCCTCAATTGACATGGAAACAGAGGATAAATGGGATTCTACAGCTTGGTTTTCAGGAATGAAGACAGCCTAGGTTTAGGCAGGGAGGGCCATGGAAGGCAATGGGTGTGTGTGCGAGCACACATGTACACCCAGGACCTGGGAGACATGAGAAGGCTGGAGGTCAGGAAACAAGGGTCAGGGAAGTTTCTAACAAGGGGTTAAAAGACCTGGACACAGAAAGACCCTCCATCCAACAGAATCAGGGGACAACACATAGGGCTCACCCTTCTCCCATATAAAATGCAGGTACAAAGGCAAGCAGAGCTTAAGATGATGGGAGCCAAGCCAAGGTGGCTGGGCACTCCATCCACAAGCCCTGCAGCTCTTGAGGACAAGCACAGGGGAGGGAGTGGGGGACTTCAGAGGCTCCAGAGTCCCCCCAGCTCTCACTGTGCATGTACTTTCACATGCTCAGTGTCATGCCCATACCTACCCATTGCTCACGTCATGTGTGGTCATGAACTGGACATGTGCACACAGAGGCACCCTCTCATGCCTCAGCAAGAGTGCTGGCCACAGGCAGCAGGTGCCAACACATATGTGGTCACAGTCAACACAGCTGCACAGTCCTGTGTGCAGATGTGTGACTACACAGACATAGACACATATGTTGACACAGACACATATGTTGTCACAGTCATGTGCACAGTCACATGGTTATGTACACAGGTGAAAGCAAAGACACACAAATGCTGCACAGACACATGTGCGAGGACACAATGGCTCAGTCTTTTTTTTTTTTTTTTGAGACGGATTCTTGCTCTGTTGCCCAGGCTGGAGTGTAGTGGCACAATCTCGGCTCACTGCAACCTCCACCTCCCGGGTTCAAGCAGTTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGATGCATGCCACCACATCTGGCTGATTTTTGTATTTTTAATAGAGATGGAGTTTCACAATGTTGGTCAGGCTGGTCTTGAACTCCTGATCTCGGGTGATCCACCTGCCTCGGCCTCCCAAAGTTCTGAGATTACAGGCCTGAGCCCTCGCACCCGGCCACTGTCTCAGTCTTATACACAACCTCCCGTGTGCATTAACATCCCCATAGGCCCCCACCTTGATCAGCTTGGAGAAAGTCTCATAGATGAAGATGAGGGAAATGAGGAAGGAGAAGATCTCCTGGGTATAGCGGGAGATGAAGCGGACCAGGAAGCTACCCTCGAAGGCCACCACCAACACCACCAGCAGGATGAGCCAGAAGCCGATCCACACGCGGCCCACGATGTACTCTAGACCGTTGGTCTCGCAGAACTGCAGGGTGGTCAGAAGAAGCCGGTCAGTCAAAGGGTCTTGGGGCAAGGCACCATGCATCAGGCAGGTGGTGCGGGGGACATGACAGGGTCAGTGGGGCAAGGACAGAACTACCGAGAAGAAGGCTTCCTCAAACACCAGCAGGGGTCCTGAGAAGCCGACCACAAGCAGGGGCTGAGCCCCCAGCAGGGCGAAGAGAATGCCCTGCAC
Task1_train_24709
A sequence alteration has been identified in SLC4A1 (solute carrier family 4 member 1 (Diego blood group)) on Chromosome 17. Is it disease-inducing or harmless?
Pathogenic; Inborn genetic diseases
CATTTTGCATTTTTTTTTCTTTTTCTTTTTTTTCCTAGAGTCTTGCTCTGTCGCCCAGGCTGGAGTGCAGTGGTGCGATTTTGGCTCACTGCAACCTCTGCCTCCCGGGTTCAAGTGATTTTCCTGCTTCAGCCTCCCAAGTAGCTGGGACTACGGGCACATGCCACCACACTCGGTTAATTTTTGTATTTTTAGTAGAAACGGGGTTTCACCATATTAGTCAGGCTGGTCTCAAACTACTGACCTCGTGATCCCCCCGTCTTGGCTTCCCAAAGTGCTAGGATTACAGATGTGAGCCACCTCACCTGGCGCTTTTTTTTTTTTTTTTTTTTTGAGATGGAGTTTCACTCTCGTTGCCCAAGTTGGAGTGCAATGGCGAGATCTCGGCTCACTGCAACCTCCGCCTCCCGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCAAGTAGCTGAGATTACAGGCTCGTGCCACCATGCCCGCCTAATTTTTTGTATTTTTAGTAGAAACAGGGCTTCACCATGTTAGCCAAGCTGGTCTCGAACTCCTGACCTCAGGTGATCTGCCCGCCTCGGCCTCTCAAACTGTTGGGATTACGGGCGTGAGCCACCGCGCCCGGCCACGTTTTTTTTTTCTTAAAAAGAGCTCTCCAAATTATACAACTTCTGGTCCCACAAAACCTGGAACTGCCCCTGGCTTTTCACTATTCCTGCTAGTCGGGAGGGCCACACACCCGCAGGGACTAGCTTGCAGTCCTGGGTCTCTTGCCTGCCTGGGAGAATGCCAGGGAAAGGTCCCTGCCTCCCACCCTCCCAGGCCCAGCCCCCACCCTGTCTCTCACGTGGTGATCTGAGACTCCAGGAATATGAGGATGAAGACCAGCAGAGCAGGCAGGGCGGAGGCAAACATCATCCAGATGGGAAACTCGGAACGCAAGCCCAGTGGGTGGATGACCCAGCCCCGGGCTGAGGAGTTGGACACCTTGAAGCCATCAGGCACCGAGAGTTTCTGTGGGAGGGGGTAGCAGGTAAGAATGCCAAGGGCAGGAGGATGGGGAAGGGTGGGAGCAGGAGGAGCCAGGGTCCTAGGGGTCGGGCAGTTAGGTTGGAGGCACTTGGGAACTTACTTATATTGAGCACTTGCTCTGTACCTAATCATTACACTAATCCCTTTACATCCATCTGCTCGTTCCCCACTTTAAAGATGAGGAAAGAGAATCAGAGAGGTTATGTAGCTTGCCCCACATCACACAGCTATTTGATGGCAGAGCTGGGATTCATGCCTAGATCTGCCTGGCTCCAAAGAATACTTCTTCCTACTGCTCTGGGTTAAGGAATGAAGGTGGCAACCTGGCCCAGCACCTTGCTTTGGCCACAGGGGTCCTCTGGGGCTGTGAGAAGCACATGGGACTCCCAGAGGAGGCAGGGATGGGGTAGAGGTAGTCCCAGCTGGCTTCAGGTTGGGGAAAGCTATTCTAGGGAAGGGGCATGCTGGGGGGTGGAAATGAGGACCTGGGGGGTATCATGGTCTGAGGGCTGGGAGGAGGGGTCACCTGGGTGTAGGTATCCTGAATGAAGAAATCCACCAGGACCATGATCAGGATGGAGATGGGGACCCCGAAGTCCCCGATGACCCGACGCAGCTGGGGGCAGGTGAAAGGACCAGTGGTCAGTGCCCAGTCACTCCCCACCTCCTGCCTTCCTCCTGCCCTATATTCACCCACGGGGCCCTGCTCTTCCAGGGGATCCATCAGCATCTAATGCCCTGTCCTGCACCTCAGCTATGTCTGCCTCCTTTCTTCTTCCCCCAGCAGTTCTCAGGCTGGGCATGCCATGAAAGTGGGAGGGGCTTGCCCATAGAGTGAAACCCTAGGTAAGGATAGGGCCAGGGGAGGTTGGAATTGGGAATGGGAATCTGAAAAAGAAGGGAAGCTAAGGGCACTGAGGAATTTGGAGCGGGGGGGCTTTGGGCTGGGATAGGGCAGTGTTGGCAAGGACAGGCGAGGAGGGTATGCTGACCTTGCCAGGGAAATAGGAGCTGTTCTTGAACTTGCGCAGCATCATGGCAAAGAAGAAGGTACCGGCCATGAGCACAAGGGAGAGGAGGGCTGTGTTGGGCAGGGGGCCCTGAGGTTTGGGCACCATCAACACGTTGTAGTTATAAGTCTTCTGTAGTGGGTGGTCCTGGAAGATCTGCAGCAGAAAACCAAGGCATTCTGTTCTCTCCCAGCTTTGGCTTGGGCTGGAAAATACCACCAGCTAACTCTACCCAGCACTACTATCCATTCATCCAGTCATCTATTAATTCATCATCCATCCATTTATCCACCCATCCATCATTCATCTATCCATTATCCATTGATCATCCATTGATTATTCATCCATCCATTCATTATCCATCTACCCATCCATCCACCTACCTATCATCTATCAACCCATTTATCCATCCATTCATCCGTCCATCATCCACCCACTCATTCATCAATCATCCATCCATCCAACCATCCATCCATCCATCCATCCGTCCATCCATTATCCATCTATTCATCCATCCATCCATCTATCTTCTTCCTCAATTGACATGGAAACAGAGGATAAATGGGATTCTACAGCTTGGTTTTCAGGAATGAAGACAGCCTAGGTTTAGGCAGGGAGGGCCATGGAAGGCAATGGGTGTGTGTGCGAGCACACATGTACACCCAGGACCTGGGAGACATGAGAAGGCTGGAGGTCAGGAAACAAGGGTCAGGGAAGTTTCTAACAAGGGGTTAAAAGACCTGGACACAGAAAGACCCTCCATCCAACAGAATCAGGGGACAACACATAGGGCTCACCCTTCTCCCATATAAAATGCAGGTACAAAGGCAAGCAGAGCTTAAGATGATGGGAGCCAAGCCAAGGTGGCTGGGCACTCCATCCACAAGCCCTGCAGCTCTTGAGGACAAGCACAGGGGAGGGAGTGGGGGACTTCAGAGGCTCCAGAGTCCCCCCAGCTCTCACTGTGCATGTACTTTCACATGCTCAGTGTCATGCCCATACCTACCCATTGCTCACGTCATGTGTGGTCATGAACTGGACATGTGCACACAGAGGCACCCTCTCATGCCTCAGCAAGAGTGCTGGCCACAGGCAGCAGGTGCCAACACATATGTGGTCACAGTCAACACAGCTGCACAGTCCTGTGTGCAGATGTGTGACTACACAGACATAGACACATATGTTGACACAGACACATATGTTGTCACAGTCATGTGCACAGTCACATGGTTATGTACACAGGTGAAAGCAAAGACACACAAATGCTGCACAGACACATGTGCGAGGACACAATGGCTCAGTCTTTTTTTTTTTTTTTTGAGACGGATTCTTGCTCTGTTGCCCAGGCTGGAGTGTAGTGGCACAATCTCGGCTCACTGCAACCTCCACCTCCCGGGTTCAAGCAGTTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGATGCATGCCACCACATCTGGCTGATTTTTGTATTTTTAATAGAGATGGAGTTTCACAATGTTGGTCAGGCTGGTCTTGAACTCCTGATCTCGGGTGATCCACCTGCCTCGGCCTCCCAAAGTTCTGAGATTACAGGCCTGAGCCCTCGCACCCGGCCACTGTCTCAGTCTTATACACAACCTCCCGTGTGCATTAACATCCCCATAGGCCCCCACCTTGATCAGCTTGGAGAAAGTCTCATAGATGAAGATGAGGGAAATGAGGAAGGAGAAGATCTCCTGGGTATAGCGGGAGATGAAGCGGACCAGGAAGCTACCCTCGAAGGCCACCACCAACACCACCAGCAGGATGAGCCAGAAGCCGATCCACACGCGGCCCACGATGTACTCTAGACCGTTGGTCTCGCAGAACTGCAGGGTGGTCAGAAGAAGCCGGTCAGTCAAAGGGTCTTGGGGCAAGGCACCATGCATCAGGCAGGTGGTGCGGGGGACATGACAGGGTCAGTGGGGCAAGGACAGAACTACCGAGAAGAAGGCTTCCTCAAACACCAGCAGGGGTCCTGAGAAGCCGACCACAAGCAGGGGCTGAGCCCCCAGCAGGGCGAAGAGAATGCCCTGCAC
CATTTTGCATTTTTTTTTCTTTTTCTTTTTTTTCCTAGAGTCTTGCTCTGTCGCCCAGGCTGGAGTGCAGTGGTGCGATTTTGGCTCACTGCAACCTCTGCCTCCCGGGTTCAAGTGATTTTCCTGCTTCAGCCTCCCAAGTAGCTGGGACTACGGGCACATGCCACCACACTCGGTTAATTTTTGTATTTTTAGTAGAAACGGGGTTTCACCATATTAGTCAGGCTGGTCTCAAACTACTGACCTCGTGATCCCCCCGTCTTGGCTTCCCAAAGTGCTAGGATTACAGATGTGAGCCACCTCACCTGGCGCTTTTTTTTTTTTTTTTTTTTTGAGATGGAGTTTCACTCTCGTTGCCCAAGTTGGAGTGCAATGGCGAGATCTCGGCTCACTGCAACCTCCGCCTCCCGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCAAGTAGCTGAGATTACAGGCTCGTGCCACCATGCCCGCCTAATTTTTTGTATTTTTAGTAGAAACAGGGCTTCACCATGTTAGCCAAGCTGGTCTCGAACTCCTGACCTCAGGTGATCTGCCCGCCTCGGCCTCTCAAACTGTTGGGATTACGGGCGTGAGCCACCGCGCCCGGCCACGTTTTTTTTTTCTTAAAAAGAGCTCTCCAAATTATACAACTTCTGGTCCCACAAAACCTGGAACTGCCCCTGGCTTTTCACTATTCCTGCTAGTCGGGAGGGCCACACACCCGCAGGGACTAGCTTGCAGTCCTGGGTCTCTTGCCTGCCTGGGAGAATGCCAGGGAAAGGTCCCTGCCTCCCACCCTCCCAGGCCCAGCCCCCACCCTGTCTCTCACGTGGTGATCTGAGACTCCAGGAATATGAGGATGAAGACCAGCAGAGCAGGCAGGGCGGAGGCAAACATCATCCAGATGGGAAACTCGGAACGCAAGCCCAGTGGGTGGATGACCCAGCCCCGGGCTGAGGAGTTGGACACCTTGAAGCCATCAGGCACCGAGAGTTTCTGTGGGAGGGGGTAGCAGGTAAGAATGCCAAGGGCAGGAGGATGGGGAAGGGTGGGAGCAGGAGGAGCCAGGGTCCTAGGGGTCGGGCAGTTAGGTTGGAGGCACTTGGGAACTTACTTATATTGAGCACTTGCTCTGTACCTAATCATTACACTAATCCCTTTACATCCATCTGCTCGTTCCCCACTTTAAAGATGAGGAAAGAGAATCAGAGAGGTTATGTAGCTTGCCCCACATCACACAGCTATTTGATGGCAGAGCTGGGATTCATGCCTAGATCTGCCTGGCTCCAAAGAATACTTCTTCCTACTGCTCTGGGTTAAGGAATGAAGGTGGCAACCTGGCCCAGCACCTTGCTTTGGCCACAGGGGTCCTCTGGGGCTGTGAGAAGCACATGGGACTCCCAGAGGAGGCAGGGATGGGGTAGAGGTAGTCCCAGCTGGCTTCAGGTTGGGGAAAGCTATTCTAGGGAAGGGGCATGCTGGGGGGTGGAAATGAGGACCTGGGGGGTATCATGGTCTGAGGGCTGGGAGGAGGGGTCACCTGGGTGTAGGTATCCTGAATGAAGAAATCCACCAGGACCATGATCAGGATGGAGATGGGGACCCCGAAGTCCCCGATGACCCGACGCAGCTGGGGGCAGGTGAAAGGACCAGTGGTCAGTGCCCAGTCACTCCCCACCTCCTGCCTTCCTCCTGCCCTATATTCACCCACGGGGCCCTGCTCTTCCAGGGGATCCATCAGCATCTAATGCCCTGTCCTGCACCTCAGCTATGTCTGCCTCCTTTCTTCTTCCCCCAGCAGTTCTCAGGCTGGGCATGCCATGAAAGTGGGAGGGGCTTGCCCATAGAGTGAAACCCTAGGTAAGGATAGGGCCAGGGGAGGTTGGAATTGGGAATGGGAATCTGAAAAAGAAGGGAAGCTAAGGGCACTGAGGAATTTGGAGCGGGGGGGCTTTGGGCTGGGATAGGGCAGTGTTGGCAAGGACAGGCGAGGAGGGTATGCTGACCTTGCCAGGGAAATAGGAGCTGTTCTTGAACTTGTGCAGCATCATGGCAAAGAAGAAGGTACCGGCCATGAGCACAAGGGAGAGGAGGGCTGTGTTGGGCAGGGGGCCCTGAGGTTTGGGCACCATCAACACGTTGTAGTTATAAGTCTTCTGTAGTGGGTGGTCCTGGAAGATCTGCAGCAGAAAACCAAGGCATTCTGTTCTCTCCCAGCTTTGGCTTGGGCTGGAAAATACCACCAGCTAACTCTACCCAGCACTACTATCCATTCATCCAGTCATCTATTAATTCATCATCCATCCATTTATCCACCCATCCATCATTCATCTATCCATTATCCATTGATCATCCATTGATTATTCATCCATCCATTCATTATCCATCTACCCATCCATCCACCTACCTATCATCTATCAACCCATTTATCCATCCATTCATCCGTCCATCATCCACCCACTCATTCATCAATCATCCATCCATCCAACCATCCATCCATCCATCCATCCGTCCATCCATTATCCATCTATTCATCCATCCATCCATCTATCTTCTTCCTCAATTGACATGGAAACAGAGGATAAATGGGATTCTACAGCTTGGTTTTCAGGAATGAAGACAGCCTAGGTTTAGGCAGGGAGGGCCATGGAAGGCAATGGGTGTGTGTGCGAGCACACATGTACACCCAGGACCTGGGAGACATGAGAAGGCTGGAGGTCAGGAAACAAGGGTCAGGGAAGTTTCTAACAAGGGGTTAAAAGACCTGGACACAGAAAGACCCTCCATCCAACAGAATCAGGGGACAACACATAGGGCTCACCCTTCTCCCATATAAAATGCAGGTACAAAGGCAAGCAGAGCTTAAGATGATGGGAGCCAAGCCAAGGTGGCTGGGCACTCCATCCACAAGCCCTGCAGCTCTTGAGGACAAGCACAGGGGAGGGAGTGGGGGACTTCAGAGGCTCCAGAGTCCCCCCAGCTCTCACTGTGCATGTACTTTCACATGCTCAGTGTCATGCCCATACCTACCCATTGCTCACGTCATGTGTGGTCATGAACTGGACATGTGCACACAGAGGCACCCTCTCATGCCTCAGCAAGAGTGCTGGCCACAGGCAGCAGGTGCCAACACATATGTGGTCACAGTCAACACAGCTGCACAGTCCTGTGTGCAGATGTGTGACTACACAGACATAGACACATATGTTGACACAGACACATATGTTGTCACAGTCATGTGCACAGTCACATGGTTATGTACACAGGTGAAAGCAAAGACACACAAATGCTGCACAGACACATGTGCGAGGACACAATGGCTCAGTCTTTTTTTTTTTTTTTTGAGACGGATTCTTGCTCTGTTGCCCAGGCTGGAGTGTAGTGGCACAATCTCGGCTCACTGCAACCTCCACCTCCCGGGTTCAAGCAGTTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGATGCATGCCACCACATCTGGCTGATTTTTGTATTTTTAATAGAGATGGAGTTTCACAATGTTGGTCAGGCTGGTCTTGAACTCCTGATCTCGGGTGATCCACCTGCCTCGGCCTCCCAAAGTTCTGAGATTACAGGCCTGAGCCCTCGCACCCGGCCACTGTCTCAGTCTTATACACAACCTCCCGTGTGCATTAACATCCCCATAGGCCCCCACCTTGATCAGCTTGGAGAAAGTCTCATAGATGAAGATGAGGGAAATGAGGAAGGAGAAGATCTCCTGGGTATAGCGGGAGATGAAGCGGACCAGGAAGCTACCCTCGAAGGCCACCACCAACACCACCAGCAGGATGAGCCAGAAGCCGATCCACACGCGGCCCACGATGTACTCTAGACCGTTGGTCTCGCAGAACTGCAGGGTGGTCAGAAGAAGCCGGTCAGTCAAAGGGTCTTGGGGCAAGGCACCATGCATCAGGCAGGTGGTGCGGGGGACATGACAGGGTCAGTGGGGCAAGGACAGAACTACCGAGAAGAAGGCTTCCTCAAACACCAGCAGGGGTCCTGAGAAGCCGACCACAAGCAGGGGCTGAGCCCCCAGCAGGGCGAAGAGAATGCCCTGCAC
Task1_train_24710
This alteration occurs within gene SLC4A1 (solute carrier family 4 member 1 (Diego blood group)) located on Chromosome 17. Is it associated with a disease or is it a benign variant?
Pathogenic; not provided
ATTTTGCATTTTTTTTTCTTTTTCTTTTTTTTCCTAGAGTCTTGCTCTGTCGCCCAGGCTGGAGTGCAGTGGTGCGATTTTGGCTCACTGCAACCTCTGCCTCCCGGGTTCAAGTGATTTTCCTGCTTCAGCCTCCCAAGTAGCTGGGACTACGGGCACATGCCACCACACTCGGTTAATTTTTGTATTTTTAGTAGAAACGGGGTTTCACCATATTAGTCAGGCTGGTCTCAAACTACTGACCTCGTGATCCCCCCGTCTTGGCTTCCCAAAGTGCTAGGATTACAGATGTGAGCCACCTCACCTGGCGCTTTTTTTTTTTTTTTTTTTTTGAGATGGAGTTTCACTCTCGTTGCCCAAGTTGGAGTGCAATGGCGAGATCTCGGCTCACTGCAACCTCCGCCTCCCGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCAAGTAGCTGAGATTACAGGCTCGTGCCACCATGCCCGCCTAATTTTTTGTATTTTTAGTAGAAACAGGGCTTCACCATGTTAGCCAAGCTGGTCTCGAACTCCTGACCTCAGGTGATCTGCCCGCCTCGGCCTCTCAAACTGTTGGGATTACGGGCGTGAGCCACCGCGCCCGGCCACGTTTTTTTTTTCTTAAAAAGAGCTCTCCAAATTATACAACTTCTGGTCCCACAAAACCTGGAACTGCCCCTGGCTTTTCACTATTCCTGCTAGTCGGGAGGGCCACACACCCGCAGGGACTAGCTTGCAGTCCTGGGTCTCTTGCCTGCCTGGGAGAATGCCAGGGAAAGGTCCCTGCCTCCCACCCTCCCAGGCCCAGCCCCCACCCTGTCTCTCACGTGGTGATCTGAGACTCCAGGAATATGAGGATGAAGACCAGCAGAGCAGGCAGGGCGGAGGCAAACATCATCCAGATGGGAAACTCGGAACGCAAGCCCAGTGGGTGGATGACCCAGCCCCGGGCTGAGGAGTTGGACACCTTGAAGCCATCAGGCACCGAGAGTTTCTGTGGGAGGGGGTAGCAGGTAAGAATGCCAAGGGCAGGAGGATGGGGAAGGGTGGGAGCAGGAGGAGCCAGGGTCCTAGGGGTCGGGCAGTTAGGTTGGAGGCACTTGGGAACTTACTTATATTGAGCACTTGCTCTGTACCTAATCATTACACTAATCCCTTTACATCCATCTGCTCGTTCCCCACTTTAAAGATGAGGAAAGAGAATCAGAGAGGTTATGTAGCTTGCCCCACATCACACAGCTATTTGATGGCAGAGCTGGGATTCATGCCTAGATCTGCCTGGCTCCAAAGAATACTTCTTCCTACTGCTCTGGGTTAAGGAATGAAGGTGGCAACCTGGCCCAGCACCTTGCTTTGGCCACAGGGGTCCTCTGGGGCTGTGAGAAGCACATGGGACTCCCAGAGGAGGCAGGGATGGGGTAGAGGTAGTCCCAGCTGGCTTCAGGTTGGGGAAAGCTATTCTAGGGAAGGGGCATGCTGGGGGGTGGAAATGAGGACCTGGGGGGTATCATGGTCTGAGGGCTGGGAGGAGGGGTCACCTGGGTGTAGGTATCCTGAATGAAGAAATCCACCAGGACCATGATCAGGATGGAGATGGGGACCCCGAAGTCCCCGATGACCCGACGCAGCTGGGGGCAGGTGAAAGGACCAGTGGTCAGTGCCCAGTCACTCCCCACCTCCTGCCTTCCTCCTGCCCTATATTCACCCACGGGGCCCTGCTCTTCCAGGGGATCCATCAGCATCTAATGCCCTGTCCTGCACCTCAGCTATGTCTGCCTCCTTTCTTCTTCCCCCAGCAGTTCTCAGGCTGGGCATGCCATGAAAGTGGGAGGGGCTTGCCCATAGAGTGAAACCCTAGGTAAGGATAGGGCCAGGGGAGGTTGGAATTGGGAATGGGAATCTGAAAAAGAAGGGAAGCTAAGGGCACTGAGGAATTTGGAGCGGGGGGGCTTTGGGCTGGGATAGGGCAGTGTTGGCAAGGACAGGCGAGGAGGGTATGCTGACCTTGCCAGGGAAATAGGAGCTGTTCTTGAACTTGCGCAGCATCATGGCAAAGAAGAAGGTACCGGCCATGAGCACAAGGGAGAGGAGGGCTGTGTTGGGCAGGGGGCCCTGAGGTTTGGGCACCATCAACACGTTGTAGTTATAAGTCTTCTGTAGTGGGTGGTCCTGGAAGATCTGCAGCAGAAAACCAAGGCATTCTGTTCTCTCCCAGCTTTGGCTTGGGCTGGAAAATACCACCAGCTAACTCTACCCAGCACTACTATCCATTCATCCAGTCATCTATTAATTCATCATCCATCCATTTATCCACCCATCCATCATTCATCTATCCATTATCCATTGATCATCCATTGATTATTCATCCATCCATTCATTATCCATCTACCCATCCATCCACCTACCTATCATCTATCAACCCATTTATCCATCCATTCATCCGTCCATCATCCACCCACTCATTCATCAATCATCCATCCATCCAACCATCCATCCATCCATCCATCCGTCCATCCATTATCCATCTATTCATCCATCCATCCATCTATCTTCTTCCTCAATTGACATGGAAACAGAGGATAAATGGGATTCTACAGCTTGGTTTTCAGGAATGAAGACAGCCTAGGTTTAGGCAGGGAGGGCCATGGAAGGCAATGGGTGTGTGTGCGAGCACACATGTACACCCAGGACCTGGGAGACATGAGAAGGCTGGAGGTCAGGAAACAAGGGTCAGGGAAGTTTCTAACAAGGGGTTAAAAGACCTGGACACAGAAAGACCCTCCATCCAACAGAATCAGGGGACAACACATAGGGCTCACCCTTCTCCCATATAAAATGCAGGTACAAAGGCAAGCAGAGCTTAAGATGATGGGAGCCAAGCCAAGGTGGCTGGGCACTCCATCCACAAGCCCTGCAGCTCTTGAGGACAAGCACAGGGGAGGGAGTGGGGGACTTCAGAGGCTCCAGAGTCCCCCCAGCTCTCACTGTGCATGTACTTTCACATGCTCAGTGTCATGCCCATACCTACCCATTGCTCACGTCATGTGTGGTCATGAACTGGACATGTGCACACAGAGGCACCCTCTCATGCCTCAGCAAGAGTGCTGGCCACAGGCAGCAGGTGCCAACACATATGTGGTCACAGTCAACACAGCTGCACAGTCCTGTGTGCAGATGTGTGACTACACAGACATAGACACATATGTTGACACAGACACATATGTTGTCACAGTCATGTGCACAGTCACATGGTTATGTACACAGGTGAAAGCAAAGACACACAAATGCTGCACAGACACATGTGCGAGGACACAATGGCTCAGTCTTTTTTTTTTTTTTTTGAGACGGATTCTTGCTCTGTTGCCCAGGCTGGAGTGTAGTGGCACAATCTCGGCTCACTGCAACCTCCACCTCCCGGGTTCAAGCAGTTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGATGCATGCCACCACATCTGGCTGATTTTTGTATTTTTAATAGAGATGGAGTTTCACAATGTTGGTCAGGCTGGTCTTGAACTCCTGATCTCGGGTGATCCACCTGCCTCGGCCTCCCAAAGTTCTGAGATTACAGGCCTGAGCCCTCGCACCCGGCCACTGTCTCAGTCTTATACACAACCTCCCGTGTGCATTAACATCCCCATAGGCCCCCACCTTGATCAGCTTGGAGAAAGTCTCATAGATGAAGATGAGGGAAATGAGGAAGGAGAAGATCTCCTGGGTATAGCGGGAGATGAAGCGGACCAGGAAGCTACCCTCGAAGGCCACCACCAACACCACCAGCAGGATGAGCCAGAAGCCGATCCACACGCGGCCCACGATGTACTCTAGACCGTTGGTCTCGCAGAACTGCAGGGTGGTCAGAAGAAGCCGGTCAGTCAAAGGGTCTTGGGGCAAGGCACCATGCATCAGGCAGGTGGTGCGGGGGACATGACAGGGTCAGTGGGGCAAGGACAGAACTACCGAGAAGAAGGCTTCCTCAAACACCAGCAGGGGTCCTGAGAAGCCGACCACAAGCAGGGGCTGAGCCCCCAGCAGGGCGAAGAGAATGCCCTGCACT
ATTTTGCATTTTTTTTTCTTTTTCTTTTTTTTCCTAGAGTCTTGCTCTGTCGCCCAGGCTGGAGTGCAGTGGTGCGATTTTGGCTCACTGCAACCTCTGCCTCCCGGGTTCAAGTGATTTTCCTGCTTCAGCCTCCCAAGTAGCTGGGACTACGGGCACATGCCACCACACTCGGTTAATTTTTGTATTTTTAGTAGAAACGGGGTTTCACCATATTAGTCAGGCTGGTCTCAAACTACTGACCTCGTGATCCCCCCGTCTTGGCTTCCCAAAGTGCTAGGATTACAGATGTGAGCCACCTCACCTGGCGCTTTTTTTTTTTTTTTTTTTTTGAGATGGAGTTTCACTCTCGTTGCCCAAGTTGGAGTGCAATGGCGAGATCTCGGCTCACTGCAACCTCCGCCTCCCGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCAAGTAGCTGAGATTACAGGCTCGTGCCACCATGCCCGCCTAATTTTTTGTATTTTTAGTAGAAACAGGGCTTCACCATGTTAGCCAAGCTGGTCTCGAACTCCTGACCTCAGGTGATCTGCCCGCCTCGGCCTCTCAAACTGTTGGGATTACGGGCGTGAGCCACCGCGCCCGGCCACGTTTTTTTTTTCTTAAAAAGAGCTCTCCAAATTATACAACTTCTGGTCCCACAAAACCTGGAACTGCCCCTGGCTTTTCACTATTCCTGCTAGTCGGGAGGGCCACACACCCGCAGGGACTAGCTTGCAGTCCTGGGTCTCTTGCCTGCCTGGGAGAATGCCAGGGAAAGGTCCCTGCCTCCCACCCTCCCAGGCCCAGCCCCCACCCTGTCTCTCACGTGGTGATCTGAGACTCCAGGAATATGAGGATGAAGACCAGCAGAGCAGGCAGGGCGGAGGCAAACATCATCCAGATGGGAAACTCGGAACGCAAGCCCAGTGGGTGGATGACCCAGCCCCGGGCTGAGGAGTTGGACACCTTGAAGCCATCAGGCACCGAGAGTTTCTGTGGGAGGGGGTAGCAGGTAAGAATGCCAAGGGCAGGAGGATGGGGAAGGGTGGGAGCAGGAGGAGCCAGGGTCCTAGGGGTCGGGCAGTTAGGTTGGAGGCACTTGGGAACTTACTTATATTGAGCACTTGCTCTGTACCTAATCATTACACTAATCCCTTTACATCCATCTGCTCGTTCCCCACTTTAAAGATGAGGAAAGAGAATCAGAGAGGTTATGTAGCTTGCCCCACATCACACAGCTATTTGATGGCAGAGCTGGGATTCATGCCTAGATCTGCCTGGCTCCAAAGAATACTTCTTCCTACTGCTCTGGGTTAAGGAATGAAGGTGGCAACCTGGCCCAGCACCTTGCTTTGGCCACAGGGGTCCTCTGGGGCTGTGAGAAGCACATGGGACTCCCAGAGGAGGCAGGGATGGGGTAGAGGTAGTCCCAGCTGGCTTCAGGTTGGGGAAAGCTATTCTAGGGAAGGGGCATGCTGGGGGGTGGAAATGAGGACCTGGGGGGTATCATGGTCTGAGGGCTGGGAGGAGGGGTCACCTGGGTGTAGGTATCCTGAATGAAGAAATCCACCAGGACCATGATCAGGATGGAGATGGGGACCCCGAAGTCCCCGATGACCCGACGCAGCTGGGGGCAGGTGAAAGGACCAGTGGTCAGTGCCCAGTCACTCCCCACCTCCTGCCTTCCTCCTGCCCTATATTCACCCACGGGGCCCTGCTCTTCCAGGGGATCCATCAGCATCTAATGCCCTGTCCTGCACCTCAGCTATGTCTGCCTCCTTTCTTCTTCCCCCAGCAGTTCTCAGGCTGGGCATGCCATGAAAGTGGGAGGGGCTTGCCCATAGAGTGAAACCCTAGGTAAGGATAGGGCCAGGGGAGGTTGGAATTGGGAATGGGAATCTGAAAAAGAAGGGAAGCTAAGGGCACTGAGGAATTTGGAGCGGGGGGGCTTTGGGCTGGGATAGGGCAGTGTTGGCAAGGACAGGCGAGGAGGGTATGCTGACCTTGCCAGGGAAATAGGAGCTGTTCTTGAACTTGCTCAGCATCATGGCAAAGAAGAAGGTACCGGCCATGAGCACAAGGGAGAGGAGGGCTGTGTTGGGCAGGGGGCCCTGAGGTTTGGGCACCATCAACACGTTGTAGTTATAAGTCTTCTGTAGTGGGTGGTCCTGGAAGATCTGCAGCAGAAAACCAAGGCATTCTGTTCTCTCCCAGCTTTGGCTTGGGCTGGAAAATACCACCAGCTAACTCTACCCAGCACTACTATCCATTCATCCAGTCATCTATTAATTCATCATCCATCCATTTATCCACCCATCCATCATTCATCTATCCATTATCCATTGATCATCCATTGATTATTCATCCATCCATTCATTATCCATCTACCCATCCATCCACCTACCTATCATCTATCAACCCATTTATCCATCCATTCATCCGTCCATCATCCACCCACTCATTCATCAATCATCCATCCATCCAACCATCCATCCATCCATCCATCCGTCCATCCATTATCCATCTATTCATCCATCCATCCATCTATCTTCTTCCTCAATTGACATGGAAACAGAGGATAAATGGGATTCTACAGCTTGGTTTTCAGGAATGAAGACAGCCTAGGTTTAGGCAGGGAGGGCCATGGAAGGCAATGGGTGTGTGTGCGAGCACACATGTACACCCAGGACCTGGGAGACATGAGAAGGCTGGAGGTCAGGAAACAAGGGTCAGGGAAGTTTCTAACAAGGGGTTAAAAGACCTGGACACAGAAAGACCCTCCATCCAACAGAATCAGGGGACAACACATAGGGCTCACCCTTCTCCCATATAAAATGCAGGTACAAAGGCAAGCAGAGCTTAAGATGATGGGAGCCAAGCCAAGGTGGCTGGGCACTCCATCCACAAGCCCTGCAGCTCTTGAGGACAAGCACAGGGGAGGGAGTGGGGGACTTCAGAGGCTCCAGAGTCCCCCCAGCTCTCACTGTGCATGTACTTTCACATGCTCAGTGTCATGCCCATACCTACCCATTGCTCACGTCATGTGTGGTCATGAACTGGACATGTGCACACAGAGGCACCCTCTCATGCCTCAGCAAGAGTGCTGGCCACAGGCAGCAGGTGCCAACACATATGTGGTCACAGTCAACACAGCTGCACAGTCCTGTGTGCAGATGTGTGACTACACAGACATAGACACATATGTTGACACAGACACATATGTTGTCACAGTCATGTGCACAGTCACATGGTTATGTACACAGGTGAAAGCAAAGACACACAAATGCTGCACAGACACATGTGCGAGGACACAATGGCTCAGTCTTTTTTTTTTTTTTTTGAGACGGATTCTTGCTCTGTTGCCCAGGCTGGAGTGTAGTGGCACAATCTCGGCTCACTGCAACCTCCACCTCCCGGGTTCAAGCAGTTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGATGCATGCCACCACATCTGGCTGATTTTTGTATTTTTAATAGAGATGGAGTTTCACAATGTTGGTCAGGCTGGTCTTGAACTCCTGATCTCGGGTGATCCACCTGCCTCGGCCTCCCAAAGTTCTGAGATTACAGGCCTGAGCCCTCGCACCCGGCCACTGTCTCAGTCTTATACACAACCTCCCGTGTGCATTAACATCCCCATAGGCCCCCACCTTGATCAGCTTGGAGAAAGTCTCATAGATGAAGATGAGGGAAATGAGGAAGGAGAAGATCTCCTGGGTATAGCGGGAGATGAAGCGGACCAGGAAGCTACCCTCGAAGGCCACCACCAACACCACCAGCAGGATGAGCCAGAAGCCGATCCACACGCGGCCCACGATGTACTCTAGACCGTTGGTCTCGCAGAACTGCAGGGTGGTCAGAAGAAGCCGGTCAGTCAAAGGGTCTTGGGGCAAGGCACCATGCATCAGGCAGGTGGTGCGGGGGACATGACAGGGTCAGTGGGGCAAGGACAGAACTACCGAGAAGAAGGCTTCCTCAAACACCAGCAGGGGTCCTGAGAAGCCGACCACAAGCAGGGGCTGAGCCCCCAGCAGGGCGAAGAGAATGCCCTGCACT
Task1_train_24711
The variant affects gene SLC4A1 (solute carrier family 4 member 1 (Diego blood group)), which is on Chromosome 17. Please evaluate whether this mutation is benign or pathogenic and specify the disease if necessary.
Pathogenic; not provided
CCCCAGCAGTTCTCAGGCTGGGCATGCCATGAAAGTGGGAGGGGCTTGCCCATAGAGTGAAACCCTAGGTAAGGATAGGGCCAGGGGAGGTTGGAATTGGGAATGGGAATCTGAAAAAGAAGGGAAGCTAAGGGCACTGAGGAATTTGGAGCGGGGGGGCTTTGGGCTGGGATAGGGCAGTGTTGGCAAGGACAGGCGAGGAGGGTATGCTGACCTTGCCAGGGAAATAGGAGCTGTTCTTGAACTTGCGCAGCATCATGGCAAAGAAGAAGGTACCGGCCATGAGCACAAGGGAGAGGAGGGCTGTGTTGGGCAGGGGGCCCTGAGGTTTGGGCACCATCAACACGTTGTAGTTATAAGTCTTCTGTAGTGGGTGGTCCTGGAAGATCTGCAGCAGAAAACCAAGGCATTCTGTTCTCTCCCAGCTTTGGCTTGGGCTGGAAAATACCACCAGCTAACTCTACCCAGCACTACTATCCATTCATCCAGTCATCTATTAATTCATCATCCATCCATTTATCCACCCATCCATCATTCATCTATCCATTATCCATTGATCATCCATTGATTATTCATCCATCCATTCATTATCCATCTACCCATCCATCCACCTACCTATCATCTATCAACCCATTTATCCATCCATTCATCCGTCCATCATCCACCCACTCATTCATCAATCATCCATCCATCCAACCATCCATCCATCCATCCATCCGTCCATCCATTATCCATCTATTCATCCATCCATCCATCTATCTTCTTCCTCAATTGACATGGAAACAGAGGATAAATGGGATTCTACAGCTTGGTTTTCAGGAATGAAGACAGCCTAGGTTTAGGCAGGGAGGGCCATGGAAGGCAATGGGTGTGTGTGCGAGCACACATGTACACCCAGGACCTGGGAGACATGAGAAGGCTGGAGGTCAGGAAACAAGGGTCAGGGAAGTTTCTAACAAGGGGTTAAAAGACCTGGACACAGAAAGACCCTCCATCCAACAGAATCAGGGGACAACACATAGGGCTCACCCTTCTCCCATATAAAATGCAGGTACAAAGGCAAGCAGAGCTTAAGATGATGGGAGCCAAGCCAAGGTGGCTGGGCACTCCATCCACAAGCCCTGCAGCTCTTGAGGACAAGCACAGGGGAGGGAGTGGGGGACTTCAGAGGCTCCAGAGTCCCCCCAGCTCTCACTGTGCATGTACTTTCACATGCTCAGTGTCATGCCCATACCTACCCATTGCTCACGTCATGTGTGGTCATGAACTGGACATGTGCACACAGAGGCACCCTCTCATGCCTCAGCAAGAGTGCTGGCCACAGGCAGCAGGTGCCAACACATATGTGGTCACAGTCAACACAGCTGCACAGTCCTGTGTGCAGATGTGTGACTACACAGACATAGACACATATGTTGACACAGACACATATGTTGTCACAGTCATGTGCACAGTCACATGGTTATGTACACAGGTGAAAGCAAAGACACACAAATGCTGCACAGACACATGTGCGAGGACACAATGGCTCAGTCTTTTTTTTTTTTTTTTGAGACGGATTCTTGCTCTGTTGCCCAGGCTGGAGTGTAGTGGCACAATCTCGGCTCACTGCAACCTCCACCTCCCGGGTTCAAGCAGTTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGATGCATGCCACCACATCTGGCTGATTTTTGTATTTTTAATAGAGATGGAGTTTCACAATGTTGGTCAGGCTGGTCTTGAACTCCTGATCTCGGGTGATCCACCTGCCTCGGCCTCCCAAAGTTCTGAGATTACAGGCCTGAGCCCTCGCACCCGGCCACTGTCTCAGTCTTATACACAACCTCCCGTGTGCATTAACATCCCCATAGGCCCCCACCTTGATCAGCTTGGAGAAAGTCTCATAGATGAAGATGAGGGAAATGAGGAAGGAGAAGATCTCCTGGGTATAGCGGGAGATGAAGCGGACCAGGAAGCTACCCTCGAAGGCCACCACCAACACCACCAGCAGGATGAGCCAGAAGCCGATCCACACGCGGCCCACGATGTACTCTAGACCGTTGGTCTCGCAGAACTGCAGGGTGGTCAGAAGAAGCCGGTCAGTCAAAGGGTCTTGGGGCAAGGCACCATGCATCAGGCAGGTGGTGCGGGGGACATGACAGGGTCAGTGGGGCAAGGACAGAACTACCGAGAAGAAGGCTTCCTCAAACACCAGCAGGGGTCCTGAGAAGCCGACCACAAGCAGGGGCTGAGCCCCCAGCAGGGCGAAGAGAATGCCCTGCACTGCAGTGGAGATCAGCAGCTCCGACACTCCCATCTGGTTCCGGGTCTTTTCTCCTGTGGGTAGAGGTCACAGTGGGATCAAGGTCAGGAGATCATTTCCAGGAGCCCATAGAGCAAGTCATGGTCAGGCTGATGCAGGGGTCTGGAGGGTCAGACAGAGTCAGAAGTTGGGGCTGAGACAGAGGCCAGAGGGTCAGAGGCAAGAGTTAGGGAGACAGGTATTGGCACTGACCCAGGAGGCCGCCGAAGGTGATGGCGGGTGACAGTGCAGCAAAGTAGATGAAGATGACGGCAGCCAGGACCTGGGGGCTGAATGCATCTGTGATGTCACTCAGGTAATAGGGGTAGCGGCGCCGGATATCACGCACCAGGCCCCCGAAGAGCTGGCCTGTCTGCTGCAGAGGGTCATCTGGGCCCCCATTTAAGTCTGTGGTGGAGGATAAGAGCATGGTCAGAGGGAGTAGCTGGAGGAGGTGAGGGGAAAGGGGACTGGAGGGTGTAGGGGAGATTGTCTGATGGGAATGGGGCGGCGAAGAAGTCTGGAAGATGTGGGCAAAGGGAGCGATGAGAGGGGAACATGTGATGGGAGACAGAGGCTACGCTGAGGTGTCTGGGGGTCGGTGGGGGCTCAGAAAGCCTCAGCTGGGAAGGGCAGGTACCTAGGCCCTTGTAGAAGCTGGAGTCTGGCTTGGCAGGGCTGGACTGATAGCGCCTTCGAAGTAGCTCCCTCTGCACAGGCACCAGACTGAGCAGTGCCTGCTCGGAGGGGGCATCGGTGGGAGGCAGCACTAGGCTGCAGTCCAGGAAGCCCTCTAGGGAGTGCAGCAGCTCCCCTCGGCTCTGAGCCATGTAGGCATCTATGCGGAACACCTAGGGGCAGGAGACAGGGTCAGAGCTGCCCGGACCTGCGGAGGGAAAGGACCCAGGAGTCCACAGCCAGGGCCTCCAGGAACCAGAACCCCCTCAGGCAGCAGCTCCCATTGCCAGGAACTGCTTTTCCTGCCCGCTCCCACCCCTACTCTCCCCACTAAGAAAGAGCTCTGGGGAGACAGACGGGGGCCCTGGGTGGGGAAAGGAGAAGGAACTAAAGCTAACCTGGTGGGTTAAGCAGACTAGATGAAACTAGAGCTGACTAGGCCCGACCAAGCCTGACCTGACCAGGTGGAACCAGGTCATAGTGAGCTGGACTAGACTAAGCCAGGCCAAAGCCAACCAGACGAGACCAGGCCAGAGCAGGGCCAGACTGCACGCCCCGACTGCCCCCGCCAGGTAGGATAGCAGCAGCTGGATTAGGCTGAATGGGTCAAACCAGTGAACCTAAAGTAACCCAGGCCAGGTTGGAGAGCAGGCCTCAGCCACCATGCAGGTCCCAAGCTTCCCCAGCCCAGCCCTCTCCGGCCCTTCCTTACCCTCTCTGACATGAGGGTGGCAGCAGCCCGGCCAAGCTGGGTGTAATCGATGTGGGGGGCCTCAGGTCCCAGCAACACAAAGAGGAAGCGTATAGGCACCGGCAGCTCCACCGCCTCCAGCTCCGCTGCCTCCTGCAGCCTCACGAAGCCCAGCACCGGCTGCTCCAGGAAGTCGGCGCGGCCTGTTAGGGGATGAGAAGATCAGGCCAGGCCGAGGAGCCCAGGGTGGGTGTGCTGAAGAGATGGGGCTGCGGGGGTCCAGGCTGAGGGAAAGACAGGCTGAGCCAAGACACGAGGGGTGTGGAGGGCTGAGGGTAGAGATGCCTGTTCTTACCCACTAGCACCAACGTGGCCTCTGAATCCGGGGGAATCTTTTCCAGAATTCCAGATGG
CCCCAGCAGTTCTCAGGCTGGGCATGCCATGAAAGTGGGAGGGGCTTGCCCATAGAGTGAAACCCTAGGTAAGGATAGGGCCAGGGGAGGTTGGAATTGGGAATGGGAATCTGAAAAAGAAGGGAAGCTAAGGGCACTGAGGAATTTGGAGCGGGGGGGCTTTGGGCTGGGATAGGGCAGTGTTGGCAAGGACAGGCGAGGAGGGTATGCTGACCTTGCCAGGGAAATAGGAGCTGTTCTTGAACTTGCGCAGCATCATGGCAAAGAAGAAGGTACCGGCCATGAGCACAAGGGAGAGGAGGGCTGTGTTGGGCAGGGGGCCCTGAGGTTTGGGCACCATCAACACGTTGTAGTTATAAGTCTTCTGTAGTGGGTGGTCCTGGAAGATCTGCAGCAGAAAACCAAGGCATTCTGTTCTCTCCCAGCTTTGGCTTGGGCTGGAAAATACCACCAGCTAACTCTACCCAGCACTACTATCCATTCATCCAGTCATCTATTAATTCATCATCCATCCATTTATCCACCCATCCATCATTCATCTATCCATTATCCATTGATCATCCATTGATTATTCATCCATCCATTCATTATCCATCTACCCATCCATCCACCTACCTATCATCTATCAACCCATTTATCCATCCATTCATCCGTCCATCATCCACCCACTCATTCATCAATCATCCATCCATCCAACCATCCATCCATCCATCCATCCGTCCATCCATTATCCATCTATTCATCCATCCATCCATCTATCTTCTTCCTCAATTGACATGGAAACAGAGGATAAATGGGATTCTACAGCTTGGTTTTCAGGAATGAAGACAGCCTAGGTTTAGGCAGGGAGGGCCATGGAAGGCAATGGGTGTGTGTGCGAGCACACATGTACACCCAGGACCTGGGAGACATGAGAAGGCTGGAGGTCAGGAAACAAGGGTCAGGGAAGTTTCTAACAAGGGGTTAAAAGACCTGGACACAGAAAGACCCTCCATCCAACAGAATCAGGGGACAACACATAGGGCTCACCCTTCTCCCATATAAAATGCAGGTACAAAGGCAAGCAGAGCTTAAGATGATGGGAGCCAAGCCAAGGTGGCTGGGCACTCCATCCACAAGCCCTGCAGCTCTTGAGGACAAGCACAGGGGAGGGAGTGGGGGACTTCAGAGGCTCCAGAGTCCCCCCAGCTCTCACTGTGCATGTACTTTCACATGCTCAGTGTCATGCCCATACCTACCCATTGCTCACGTCATGTGTGGTCATGAACTGGACATGTGCACACAGAGGCACCCTCTCATGCCTCAGCAAGAGTGCTGGCCACAGGCAGCAGGTGCCAACACATATGTGGTCACAGTCAACACAGCTGCACAGTCCTGTGTGCAGATGTGTGACTACACAGACATAGACACATATGTTGACACAGACACATATGTTGTCACAGTCATGTGCACAGTCACATGGTTATGTACACAGGTGAAAGCAAAGACACACAAATGCTGCACAGACACATGTGCGAGGACACAATGGCTCAGTCTTTTTTTTTTTTTTTTGAGACGGATTCTTGCTCTGTTGCCCAGGCTGGAGTGTAGTGGCACAATCTCGGCTCACTGCAACCTCCACCTCCCGGGTTCAAGCAGTTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGATGCATGCCACCACATCTGGCTGATTTTTGTATTTTTAATAGAGATGGAGTTTCACAATGTTGGTCAGGCTGGTCTTGAACTCCTGATCTCGGGTGATCCACCTGCCTCGGCCTCCCAAAGTTCTGAGATTACAGGCCTGAGCCCTCGCACCCGGCCACTGTCTCAGTCTTATACACAACCTCCCGTGTGCATTAACATCCCCATAGGCCCCCACCTTGATCAGCTTGGAGAAAGTCTCATAGATGAAGATGAGGGAAATGAGGAAGGAGAAGATCTCCTGGGTATAGCGGGAGATGAAGCGGACCAGGAAGCTACCCTCGAAGGCCACCACCAACACCACCAGCAGGATGAGCCAGAAGCCGATCCACACGTGGCCCACGATGTACTCTAGACCGTTGGTCTCGCAGAACTGCAGGGTGGTCAGAAGAAGCCGGTCAGTCAAAGGGTCTTGGGGCAAGGCACCATGCATCAGGCAGGTGGTGCGGGGGACATGACAGGGTCAGTGGGGCAAGGACAGAACTACCGAGAAGAAGGCTTCCTCAAACACCAGCAGGGGTCCTGAGAAGCCGACCACAAGCAGGGGCTGAGCCCCCAGCAGGGCGAAGAGAATGCCCTGCACTGCAGTGGAGATCAGCAGCTCCGACACTCCCATCTGGTTCCGGGTCTTTTCTCCTGTGGGTAGAGGTCACAGTGGGATCAAGGTCAGGAGATCATTTCCAGGAGCCCATAGAGCAAGTCATGGTCAGGCTGATGCAGGGGTCTGGAGGGTCAGACAGAGTCAGAAGTTGGGGCTGAGACAGAGGCCAGAGGGTCAGAGGCAAGAGTTAGGGAGACAGGTATTGGCACTGACCCAGGAGGCCGCCGAAGGTGATGGCGGGTGACAGTGCAGCAAAGTAGATGAAGATGACGGCAGCCAGGACCTGGGGGCTGAATGCATCTGTGATGTCACTCAGGTAATAGGGGTAGCGGCGCCGGATATCACGCACCAGGCCCCCGAAGAGCTGGCCTGTCTGCTGCAGAGGGTCATCTGGGCCCCCATTTAAGTCTGTGGTGGAGGATAAGAGCATGGTCAGAGGGAGTAGCTGGAGGAGGTGAGGGGAAAGGGGACTGGAGGGTGTAGGGGAGATTGTCTGATGGGAATGGGGCGGCGAAGAAGTCTGGAAGATGTGGGCAAAGGGAGCGATGAGAGGGGAACATGTGATGGGAGACAGAGGCTACGCTGAGGTGTCTGGGGGTCGGTGGGGGCTCAGAAAGCCTCAGCTGGGAAGGGCAGGTACCTAGGCCCTTGTAGAAGCTGGAGTCTGGCTTGGCAGGGCTGGACTGATAGCGCCTTCGAAGTAGCTCCCTCTGCACAGGCACCAGACTGAGCAGTGCCTGCTCGGAGGGGGCATCGGTGGGAGGCAGCACTAGGCTGCAGTCCAGGAAGCCCTCTAGGGAGTGCAGCAGCTCCCCTCGGCTCTGAGCCATGTAGGCATCTATGCGGAACACCTAGGGGCAGGAGACAGGGTCAGAGCTGCCCGGACCTGCGGAGGGAAAGGACCCAGGAGTCCACAGCCAGGGCCTCCAGGAACCAGAACCCCCTCAGGCAGCAGCTCCCATTGCCAGGAACTGCTTTTCCTGCCCGCTCCCACCCCTACTCTCCCCACTAAGAAAGAGCTCTGGGGAGACAGACGGGGGCCCTGGGTGGGGAAAGGAGAAGGAACTAAAGCTAACCTGGTGGGTTAAGCAGACTAGATGAAACTAGAGCTGACTAGGCCCGACCAAGCCTGACCTGACCAGGTGGAACCAGGTCATAGTGAGCTGGACTAGACTAAGCCAGGCCAAAGCCAACCAGACGAGACCAGGCCAGAGCAGGGCCAGACTGCACGCCCCGACTGCCCCCGCCAGGTAGGATAGCAGCAGCTGGATTAGGCTGAATGGGTCAAACCAGTGAACCTAAAGTAACCCAGGCCAGGTTGGAGAGCAGGCCTCAGCCACCATGCAGGTCCCAAGCTTCCCCAGCCCAGCCCTCTCCGGCCCTTCCTTACCCTCTCTGACATGAGGGTGGCAGCAGCCCGGCCAAGCTGGGTGTAATCGATGTGGGGGGCCTCAGGTCCCAGCAACACAAAGAGGAAGCGTATAGGCACCGGCAGCTCCACCGCCTCCAGCTCCGCTGCCTCCTGCAGCCTCACGAAGCCCAGCACCGGCTGCTCCAGGAAGTCGGCGCGGCCTGTTAGGGGATGAGAAGATCAGGCCAGGCCGAGGAGCCCAGGGTGGGTGTGCTGAAGAGATGGGGCTGCGGGGGTCCAGGCTGAGGGAAAGACAGGCTGAGCCAAGACACGAGGGGTGTGGAGGGCTGAGGGTAGAGATGCCTGTTCTTACCCACTAGCACCAACGTGGCCTCTGAATCCGGGGGAATCTTTTCCAGAATTCCAGATGG
Task1_train_24712
The following genetic variant occurs in GRN (granulin precursor) on Chromosome 17. Classify its clinical effect — pathogenic or benign — and list any associated condition.
Pathogenic; Neuronal ceroid lipofuscinosis 11
AAAAAAAAAAGAGAAAAAGAAAAAGAAATGCCATGTAAATAGTTGTGATCCTGAATTGTTTAGGGAATAATAAGAAAGAACTATCTGTAGATGTTCAGTATAGATGCACCCATCGTAAGCCTAACTACATTGTATAACTCAGCAACGATGTAACATTTTCAGGGGTTTTTTTGTTTTGTTTTTTGAGACAGAATCTCAGTCTCACTCTGTCACCCAGGCTGGAGTATGTTGGCGTGATCTCTGCTCACTGCAACCTCCACCTCCTGGGCTCAAGCGATTCTCCTGCCTCAGCCTCTTGAGTAGCTGGGATTGCAGGTGTGCGCTACCACGCATGGCTAATTTTTGTATTTTTAATAGAGATGGGGTTTTACCACGTTGGTCAGGCTGGTCTTGAACTCCTGACCTTGGGATCCGCCCACCTGGGCCTCCCAAAGTGCTGGGATTACAGGCGTTAGCCACCGCGCCCAATATATTTTGATCCCTGGTTGGATATGGAGGGCTGACTGTACTTAACATCTCTAAGCTTCAGTTTCCTCCTTTAAAATAAAGGTGTGGCTGGGTGTGGTGGTTCAAGCCTGTAATCCCAGCACTTAGGGAGGCTGAGGTGGGTGGATCAGCTGAGGTCAGGAGTTCAAGACCAGCCTGACCAATATGGTGAAACCCCCTCTCTGCTAAAAATACAAAAATTAGCCAGGCGTGGTGGCGAGCGCCTGTAGTCCCAGCTACTTGCTTGAACTTGGGAGGCAGAGGTTGCAGTGAGCTGAGATCGTGCCACTGAACTCGAGCATGGGCAACAGAGCAAGACTGTCTCAAAAAAAAAAAAAAAAAGGGGGTGAGCAGACGTGGTGGCACGCTCCCACAGTCCCAGCTACTTAGTAGGAGGCCAAGGTTGGAGGATTGCTTGATCCCAGGAGTCTGAGTCCAGCCTGGGCAACATGGCAATACCTCATCTCTAAAAATAAAATAAAAGTAAAGGTATTAATTACTACTTTGGATGGTTGTTGCAAAGAAATATATATAAAATAATGGAGAGTCTTGTAACTGGCTCCCAAGAGGCTCAACAGACATTACTGTTTTTGCTTCTTCATTATGAGTTACCTCTCTGGCCACCCCACTGAACTAGCTGGGCTAGCTGAGCCTGGGAGAAGAGTTGTTTAGGAAGTGAGAGGCTGCTCTCCACAGAGACTCAAGGCTCAGTTCCTCCTGGTGACTCAGATGGGCAGCCCAGTGGGCACACGTGGTCTCTCTCCACATGTGGCTGAGTTTCACTTCCAGAATAGATGGAGAGGCAAGGGCAGGGTTTAGCATGCTTGAGGAATCTCAGAGGGCCCTGGTGGTGTGGGGGACCCTCAGAACACAGGTGTCTCAAGGGCTGACCCAGCTTCTGTGTCCTTTTCTCTGGGTGAGGAGGGGACATTCATGGGCAGATGGTGACCTCTGGGGAAGGCAGCCCAGACTCCACTGGCCACCATATTTCCTTTTTCACAACTTTCTCACCCCTGTGGTTTCCCATGTCATCATGTGGCCGCTTCCCGCAAGGCCTTAGCGGGGTGCAGGTATGAACATAGTGTCAGGCAAGGAGGCATCTGGAGGGGAACCCTGGCTTTTCCTGGGGGGACTCCCTCCCTGCACCCTAGCCCTGTCCTCTCCCATGGCTACTGATGCCTTCCCCTCACCCCAGAGGTGGCCCACATCTGCACAGATCAGACCCACAAAAATCACGTCTTCCTGACTCTCATAAGCCTGCCCAGTGAGGCCCAGGCATTAGGCCATGTGCTGGGGACTCAGACCCACACATATACGCATGTCAGCATTCATGCTTACAGGTCCGCACATGCTGGGGCAAGTGTCACACACGGGGCGCTGTAGGAAGCTGACTCTCAGCCCCTGCAGATTTCTGCCTGCCTGGACAGGGAGGTGTTGAGAAGGCTCAGGCAGTCCTGGGCCAGGACCTTGGCCTGGGGCTAGGGTACTGAGTGACCCTAGAATCAAGGGTGGCGTGGGCTTAAGCAGTTGCCAGACGTTCCTTGGTACTTTGCAGGCAGACCATGTGGACCCTGGTGAGCTGGGTGGCCTTAACAGCAGGGCTGGTGGCTGGAACGCGGTGCCCAGATGGTCAGTTCTGCCCTGTGGCCTGCTGCCTGGACCCCGGAGGAGCCAGCTACAGCTGCTGCCGTCCCCTTCTGGTGAGTGCCCCTCAGCCTAGGCAAGAGCTGGCAGCCTGGGTTTTCCCAAAGGGTCATCTTGGATTGGCCAGAGGAGGACGCCAGGCACAAGTCTGTGGTTTATCATTTTCCCTGTCTTTCTAGGACAAATGGCCCACAACACTGAGCAGGCATCTGGGTGGCCCCTGCCAGGTTGATGCCCACTGCTCTGCCGGCCACTCCTGCATCTTTACCGTCTCAGGGACTTCCAGTTGCTGCCCCTTCCCAGAGGTGAGCGTGCCATCAGCCCAGTGGAGGGGCTTAGGTCTGCATTTATGCTTTTCCTGCACTCTACCACCTGCAGATAAAAGGGCCCTGCCAATGCAGGTTTCTCTGTGTTCCACAGGCCGTGGCATGCGGGGATGGCCATCACTGCTGCCCACGGGGCTTCCACTGCAGTGCAGACGGGCGATCCTGCTTCCAAAGATCAGGTGCAGCTGGGGTGTGGGTGCAGGGCAGGCAGACGGGCAGCATGTGGAGTCTGGAACCCAGGAGCCCAGCTGGCGGGGGCAGCCCTGATTCCTGCCCTTGTGCCCTCATTCATGTGGCATCTGTACTAAGCAACAGCCCTGCTGTGGACAGAGGGGCAGCACTGGGGATAGGAGGGTGCGGGAGAAAGTGCAAGACTCCAGGTCCAGGCGTTGTGGGGGTGGGGAGAGGTCGAGCTGGGCCGGTCTAATACCAACCCATGGTCAGTGGGTGCCCCTTCCCCATGCCATCTTGCTGAGGGAGGGACTGGATTGTGAGGAGGGTGAGTTAGGCCTGCCTAGGAGATCACTGAGCCTTAGTGTCACCCTCAAACCCCAGTAGCTGGGCTTGCAGGCCCTGGTGCCACCAGCTCCTTGTGTGATGGGGGAGTCACCTTCCCTGAGTGGGCTGGTAGTATCCTGGGTCATCTTGTCCACAGGTAACAACTCCGTGGGTGCCATCCAGTGCCCTGATAGTCAGTTCGAATGCCCGGACTTCTCCACGTGCTGTGTTATGGTCGATGGCTCCTGGGGGTGCTGCCCCATGCCCCAGGTACAAATCTGGGGGAGATGGGGGTATGTGGAGGGAAGTGGGGGCAGAGTTGGGGGCCAGGGGCAGGGGGTGAAGACGGAGTCAGGACCATTTTTTCTCAGGCTTCCTGCTGTGAAGACAGGGTGCACTGCTGTCCGCACGGTGCCTTCTGCGACCTGGTTCACACCCGCTGCATCACACCCACGGGCACCCACCCCCTGGCAAAGAAGCTCCCTGCCCAGAGGACTAACAGGGCAGGTGAGGAGGTGGGAGAGCATCAGGCCAGGGGCTGGGGCGGGGCCTCATTGACTCCAAGTGTAGGAAAAAGTTTCCTCCATCCTGGCTGCCCCTCACGTTTGCTCCTCTTCCAGTGGCCTTGTCCAGCTCGGTCATGTGTCCGGACGCACGGTCCCGGTGCCCTGATGGTTCTACCTGCTGTGAGCTGCCCAGTGGGAAGTATGGCTGCTGCCCAATGCCCAACGTGAGTGAGGGGCTGGAGCCAGCTTGGCTGTGTGCCCCCAGCCACCTGGCCCTGACACGCACCTTACAGGGGCTCTGTGGCATGGGGCTGGCTGGCTGCTTGCTGGGAGCCTGGCTGATGCAGGGTTCATGCTACCCCCTAGTGGGGGATTGGGGCAGTGCCAGCCATCAGCCTGGCTGCTCCCTGTGTGCTACTGAGCCTGGAAGTGACAAAGACCCACCCCTGTCCCCACTCAGGCCACCTGCTGCTCCGATCACCTGCACTGCTGCCCCCAAGACACTGTGTGTGACCTGATCCAGAGTAAGTGCCTCTCCAAGGAGAACGCTACCACGGACCTCCTCACTAAGCTGCCTGCGCACACAGGTACCAGAGGCAGGGTGCAGATACAGGGGTGGGGCCCCCTTTCCTCCCT
AAAAAAAAAAGAGAAAAAGAAAAAGAAATGCCATGTAAATAGTTGTGATCCTGAATTGTTTAGGGAATAATAAGAAAGAACTATCTGTAGATGTTCAGTATAGATGCACCCATCGTAAGCCTAACTACATTGTATAACTCAGCAACGATGTAACATTTTCAGGGGTTTTTTTGTTTTGTTTTTTGAGACAGAATCTCAGTCTCACTCTGTCACCCAGGCTGGAGTATGTTGGCGTGATCTCTGCTCACTGCAACCTCCACCTCCTGGGCTCAAGCGATTCTCCTGCCTCAGCCTCTTGAGTAGCTGGGATTGCAGGTGTGCGCTACCACGCATGGCTAATTTTTGTATTTTTAATAGAGATGGGGTTTTACCACGTTGGTCAGGCTGGTCTTGAACTCCTGACCTTGGGATCCGCCCACCTGGGCCTCCCAAAGTGCTGGGATTACAGGCGTTAGCCACCGCGCCCAATATATTTTGATCCCTGGTTGGATATGGAGGGCTGACTGTACTTAACATCTCTAAGCTTCAGTTTCCTCCTTTAAAATAAAGGTGTGGCTGGGTGTGGTGGTTCAAGCCTGTAATCCCAGCACTTAGGGAGGCTGAGGTGGGTGGATCAGCTGAGGTCAGGAGTTCAAGACCAGCCTGACCAATATGGTGAAACCCCCTCTCTGCTAAAAATACAAAAATTAGCCAGGCGTGGTGGCGAGCGCCTGTAGTCCCAGCTACTTGCTTGAACTTGGGAGGCAGAGGTTGCAGTGAGCTGAGATCGTGCCACTGAACTCGAGCATGGGCAACAGAGCAAGACTGTCTCAAAAAAAAAAAAAAAAAGGGGGTGAGCAGACGTGGTGGCACGCTCCCACAGTCCCAGCTACTTAGTAGGAGGCCAAGGTTGGAGGATTGCTTGATCCCAGGAGTCTGAGTCCAGCCTGGGCAACATGGCAATACCTCATCTCTAAAAATAAAATAAAAGTAAAGGTATTAATTACTACTTTGGATGGTTGTTGCAAAGAAATATATATAAAATAATGGAGAGTCTTGTAACTGGCTCCCAAGAGGCTCAACAGACATTACTGTTTTTGCTTCTTCATTATGAGTTACCTCTCTGGCCACCCCACTGAACTAGCTGGGCTAGCTGAGCCTGGGAGAAGAGTTGTTTAGGAAGTGAGAGGCTGCTCTCCACAGAGACTCAAGGCTCAGTTCCTCCTGGTGACTCAGATGGGCAGCCCAGTGGGCACACGTGGTCTCTCTCCACATGTGGCTGAGTTTCACTTCCAGAATAGATGGAGAGGCAAGGGCAGGGTTTAGCATGCTTGAGGAATCTCAGAGGGCCCTGGTGGTGTGGGGGACCCTCAGAACACAGGTGTCTCAAGGGCTGACCCAGCTTCTGTGTCCTTTTCTCTGGGTGAGGAGGGGACATTCATGGGCAGATGGTGACCTCTGGGGAAGGCAGCCCAGACTCCACTGGCCACCATATTTCCTTTTTCACAACTTTCTCACCCCTGTGGTTTCCCATGTCATCATGTGGCCGCTTCCCGCAAGGCCTTAGCGGGGTGCAGGTATGAACATAGTGTCAGGCAAGGAGGCATCTGGAGGGGAACCCTGGCTTTTCCTGGGGGGACTCCCTCCCTGCACCCTAGCCCTGTCCTCTCCCATGGCTACTGATGCCTTCCCCTCACCCCAGAGGTGGCCCACATCTGCACAGATCAGACCCACAAAAATCACGTCTTCCTGACTCTCATAAGCCTGCCCAGTGAGGCCCAGGCATTAGGCCATGTGCTGGGGACTCAGACCCACACATATACGCATGTCAGCATTCATGCTTACAGGTCCGCACATGCTGGGGCAAGTGTCACACACGGGGCGCTGTAGGAAGCTGACTCTCAGCCCCTGCAGATTTCTGCCTGCCTGGACAGGGAGGTGTTGAGAAGGCTCAGGCAGTCCTGGGCCAGGACCTTGGCCTGGGGCTAGGGTACTGAGTGACCCTAGAATCAAGGGTGGCGTGGGCTTAAGCAGTTGCCAGACGTTCCTTGGTACTTTGCAGGCAGACCGTGTGGACCCTGGTGAGCTGGGTGGCCTTAACAGCAGGGCTGGTGGCTGGAACGCGGTGCCCAGATGGTCAGTTCTGCCCTGTGGCCTGCTGCCTGGACCCCGGAGGAGCCAGCTACAGCTGCTGCCGTCCCCTTCTGGTGAGTGCCCCTCAGCCTAGGCAAGAGCTGGCAGCCTGGGTTTTCCCAAAGGGTCATCTTGGATTGGCCAGAGGAGGACGCCAGGCACAAGTCTGTGGTTTATCATTTTCCCTGTCTTTCTAGGACAAATGGCCCACAACACTGAGCAGGCATCTGGGTGGCCCCTGCCAGGTTGATGCCCACTGCTCTGCCGGCCACTCCTGCATCTTTACCGTCTCAGGGACTTCCAGTTGCTGCCCCTTCCCAGAGGTGAGCGTGCCATCAGCCCAGTGGAGGGGCTTAGGTCTGCATTTATGCTTTTCCTGCACTCTACCACCTGCAGATAAAAGGGCCCTGCCAATGCAGGTTTCTCTGTGTTCCACAGGCCGTGGCATGCGGGGATGGCCATCACTGCTGCCCACGGGGCTTCCACTGCAGTGCAGACGGGCGATCCTGCTTCCAAAGATCAGGTGCAGCTGGGGTGTGGGTGCAGGGCAGGCAGACGGGCAGCATGTGGAGTCTGGAACCCAGGAGCCCAGCTGGCGGGGGCAGCCCTGATTCCTGCCCTTGTGCCCTCATTCATGTGGCATCTGTACTAAGCAACAGCCCTGCTGTGGACAGAGGGGCAGCACTGGGGATAGGAGGGTGCGGGAGAAAGTGCAAGACTCCAGGTCCAGGCGTTGTGGGGGTGGGGAGAGGTCGAGCTGGGCCGGTCTAATACCAACCCATGGTCAGTGGGTGCCCCTTCCCCATGCCATCTTGCTGAGGGAGGGACTGGATTGTGAGGAGGGTGAGTTAGGCCTGCCTAGGAGATCACTGAGCCTTAGTGTCACCCTCAAACCCCAGTAGCTGGGCTTGCAGGCCCTGGTGCCACCAGCTCCTTGTGTGATGGGGGAGTCACCTTCCCTGAGTGGGCTGGTAGTATCCTGGGTCATCTTGTCCACAGGTAACAACTCCGTGGGTGCCATCCAGTGCCCTGATAGTCAGTTCGAATGCCCGGACTTCTCCACGTGCTGTGTTATGGTCGATGGCTCCTGGGGGTGCTGCCCCATGCCCCAGGTACAAATCTGGGGGAGATGGGGGTATGTGGAGGGAAGTGGGGGCAGAGTTGGGGGCCAGGGGCAGGGGGTGAAGACGGAGTCAGGACCATTTTTTCTCAGGCTTCCTGCTGTGAAGACAGGGTGCACTGCTGTCCGCACGGTGCCTTCTGCGACCTGGTTCACACCCGCTGCATCACACCCACGGGCACCCACCCCCTGGCAAAGAAGCTCCCTGCCCAGAGGACTAACAGGGCAGGTGAGGAGGTGGGAGAGCATCAGGCCAGGGGCTGGGGCGGGGCCTCATTGACTCCAAGTGTAGGAAAAAGTTTCCTCCATCCTGGCTGCCCCTCACGTTTGCTCCTCTTCCAGTGGCCTTGTCCAGCTCGGTCATGTGTCCGGACGCACGGTCCCGGTGCCCTGATGGTTCTACCTGCTGTGAGCTGCCCAGTGGGAAGTATGGCTGCTGCCCAATGCCCAACGTGAGTGAGGGGCTGGAGCCAGCTTGGCTGTGTGCCCCCAGCCACCTGGCCCTGACACGCACCTTACAGGGGCTCTGTGGCATGGGGCTGGCTGGCTGCTTGCTGGGAGCCTGGCTGATGCAGGGTTCATGCTACCCCCTAGTGGGGGATTGGGGCAGTGCCAGCCATCAGCCTGGCTGCTCCCTGTGTGCTACTGAGCCTGGAAGTGACAAAGACCCACCCCTGTCCCCACTCAGGCCACCTGCTGCTCCGATCACCTGCACTGCTGCCCCCAAGACACTGTGTGTGACCTGATCCAGAGTAAGTGCCTCTCCAAGGAGAACGCTACCACGGACCTCCTCACTAAGCTGCCTGCGCACACAGGTACCAGAGGCAGGGTGCAGATACAGGGGTGGGGCCCCCTTTCCTCCCT
Task1_train_24713
Here is a variant affecting GRN (granulin precursor) on Chromosome 17. Please identify whether it is a benign mutation or associated with a disorder.
Pathogenic; GRN-related frontotemporal lobar degeneration with Tdp43 inclusions
AAAAAAAAAAGAGAAAAAGAAAAAGAAATGCCATGTAAATAGTTGTGATCCTGAATTGTTTAGGGAATAATAAGAAAGAACTATCTGTAGATGTTCAGTATAGATGCACCCATCGTAAGCCTAACTACATTGTATAACTCAGCAACGATGTAACATTTTCAGGGGTTTTTTTGTTTTGTTTTTTGAGACAGAATCTCAGTCTCACTCTGTCACCCAGGCTGGAGTATGTTGGCGTGATCTCTGCTCACTGCAACCTCCACCTCCTGGGCTCAAGCGATTCTCCTGCCTCAGCCTCTTGAGTAGCTGGGATTGCAGGTGTGCGCTACCACGCATGGCTAATTTTTGTATTTTTAATAGAGATGGGGTTTTACCACGTTGGTCAGGCTGGTCTTGAACTCCTGACCTTGGGATCCGCCCACCTGGGCCTCCCAAAGTGCTGGGATTACAGGCGTTAGCCACCGCGCCCAATATATTTTGATCCCTGGTTGGATATGGAGGGCTGACTGTACTTAACATCTCTAAGCTTCAGTTTCCTCCTTTAAAATAAAGGTGTGGCTGGGTGTGGTGGTTCAAGCCTGTAATCCCAGCACTTAGGGAGGCTGAGGTGGGTGGATCAGCTGAGGTCAGGAGTTCAAGACCAGCCTGACCAATATGGTGAAACCCCCTCTCTGCTAAAAATACAAAAATTAGCCAGGCGTGGTGGCGAGCGCCTGTAGTCCCAGCTACTTGCTTGAACTTGGGAGGCAGAGGTTGCAGTGAGCTGAGATCGTGCCACTGAACTCGAGCATGGGCAACAGAGCAAGACTGTCTCAAAAAAAAAAAAAAAAAGGGGGTGAGCAGACGTGGTGGCACGCTCCCACAGTCCCAGCTACTTAGTAGGAGGCCAAGGTTGGAGGATTGCTTGATCCCAGGAGTCTGAGTCCAGCCTGGGCAACATGGCAATACCTCATCTCTAAAAATAAAATAAAAGTAAAGGTATTAATTACTACTTTGGATGGTTGTTGCAAAGAAATATATATAAAATAATGGAGAGTCTTGTAACTGGCTCCCAAGAGGCTCAACAGACATTACTGTTTTTGCTTCTTCATTATGAGTTACCTCTCTGGCCACCCCACTGAACTAGCTGGGCTAGCTGAGCCTGGGAGAAGAGTTGTTTAGGAAGTGAGAGGCTGCTCTCCACAGAGACTCAAGGCTCAGTTCCTCCTGGTGACTCAGATGGGCAGCCCAGTGGGCACACGTGGTCTCTCTCCACATGTGGCTGAGTTTCACTTCCAGAATAGATGGAGAGGCAAGGGCAGGGTTTAGCATGCTTGAGGAATCTCAGAGGGCCCTGGTGGTGTGGGGGACCCTCAGAACACAGGTGTCTCAAGGGCTGACCCAGCTTCTGTGTCCTTTTCTCTGGGTGAGGAGGGGACATTCATGGGCAGATGGTGACCTCTGGGGAAGGCAGCCCAGACTCCACTGGCCACCATATTTCCTTTTTCACAACTTTCTCACCCCTGTGGTTTCCCATGTCATCATGTGGCCGCTTCCCGCAAGGCCTTAGCGGGGTGCAGGTATGAACATAGTGTCAGGCAAGGAGGCATCTGGAGGGGAACCCTGGCTTTTCCTGGGGGGACTCCCTCCCTGCACCCTAGCCCTGTCCTCTCCCATGGCTACTGATGCCTTCCCCTCACCCCAGAGGTGGCCCACATCTGCACAGATCAGACCCACAAAAATCACGTCTTCCTGACTCTCATAAGCCTGCCCAGTGAGGCCCAGGCATTAGGCCATGTGCTGGGGACTCAGACCCACACATATACGCATGTCAGCATTCATGCTTACAGGTCCGCACATGCTGGGGCAAGTGTCACACACGGGGCGCTGTAGGAAGCTGACTCTCAGCCCCTGCAGATTTCTGCCTGCCTGGACAGGGAGGTGTTGAGAAGGCTCAGGCAGTCCTGGGCCAGGACCTTGGCCTGGGGCTAGGGTACTGAGTGACCCTAGAATCAAGGGTGGCGTGGGCTTAAGCAGTTGCCAGACGTTCCTTGGTACTTTGCAGGCAGACCATGTGGACCCTGGTGAGCTGGGTGGCCTTAACAGCAGGGCTGGTGGCTGGAACGCGGTGCCCAGATGGTCAGTTCTGCCCTGTGGCCTGCTGCCTGGACCCCGGAGGAGCCAGCTACAGCTGCTGCCGTCCCCTTCTGGTGAGTGCCCCTCAGCCTAGGCAAGAGCTGGCAGCCTGGGTTTTCCCAAAGGGTCATCTTGGATTGGCCAGAGGAGGACGCCAGGCACAAGTCTGTGGTTTATCATTTTCCCTGTCTTTCTAGGACAAATGGCCCACAACACTGAGCAGGCATCTGGGTGGCCCCTGCCAGGTTGATGCCCACTGCTCTGCCGGCCACTCCTGCATCTTTACCGTCTCAGGGACTTCCAGTTGCTGCCCCTTCCCAGAGGTGAGCGTGCCATCAGCCCAGTGGAGGGGCTTAGGTCTGCATTTATGCTTTTCCTGCACTCTACCACCTGCAGATAAAAGGGCCCTGCCAATGCAGGTTTCTCTGTGTTCCACAGGCCGTGGCATGCGGGGATGGCCATCACTGCTGCCCACGGGGCTTCCACTGCAGTGCAGACGGGCGATCCTGCTTCCAAAGATCAGGTGCAGCTGGGGTGTGGGTGCAGGGCAGGCAGACGGGCAGCATGTGGAGTCTGGAACCCAGGAGCCCAGCTGGCGGGGGCAGCCCTGATTCCTGCCCTTGTGCCCTCATTCATGTGGCATCTGTACTAAGCAACAGCCCTGCTGTGGACAGAGGGGCAGCACTGGGGATAGGAGGGTGCGGGAGAAAGTGCAAGACTCCAGGTCCAGGCGTTGTGGGGGTGGGGAGAGGTCGAGCTGGGCCGGTCTAATACCAACCCATGGTCAGTGGGTGCCCCTTCCCCATGCCATCTTGCTGAGGGAGGGACTGGATTGTGAGGAGGGTGAGTTAGGCCTGCCTAGGAGATCACTGAGCCTTAGTGTCACCCTCAAACCCCAGTAGCTGGGCTTGCAGGCCCTGGTGCCACCAGCTCCTTGTGTGATGGGGGAGTCACCTTCCCTGAGTGGGCTGGTAGTATCCTGGGTCATCTTGTCCACAGGTAACAACTCCGTGGGTGCCATCCAGTGCCCTGATAGTCAGTTCGAATGCCCGGACTTCTCCACGTGCTGTGTTATGGTCGATGGCTCCTGGGGGTGCTGCCCCATGCCCCAGGTACAAATCTGGGGGAGATGGGGGTATGTGGAGGGAAGTGGGGGCAGAGTTGGGGGCCAGGGGCAGGGGGTGAAGACGGAGTCAGGACCATTTTTTCTCAGGCTTCCTGCTGTGAAGACAGGGTGCACTGCTGTCCGCACGGTGCCTTCTGCGACCTGGTTCACACCCGCTGCATCACACCCACGGGCACCCACCCCCTGGCAAAGAAGCTCCCTGCCCAGAGGACTAACAGGGCAGGTGAGGAGGTGGGAGAGCATCAGGCCAGGGGCTGGGGCGGGGCCTCATTGACTCCAAGTGTAGGAAAAAGTTTCCTCCATCCTGGCTGCCCCTCACGTTTGCTCCTCTTCCAGTGGCCTTGTCCAGCTCGGTCATGTGTCCGGACGCACGGTCCCGGTGCCCTGATGGTTCTACCTGCTGTGAGCTGCCCAGTGGGAAGTATGGCTGCTGCCCAATGCCCAACGTGAGTGAGGGGCTGGAGCCAGCTTGGCTGTGTGCCCCCAGCCACCTGGCCCTGACACGCACCTTACAGGGGCTCTGTGGCATGGGGCTGGCTGGCTGCTTGCTGGGAGCCTGGCTGATGCAGGGTTCATGCTACCCCCTAGTGGGGGATTGGGGCAGTGCCAGCCATCAGCCTGGCTGCTCCCTGTGTGCTACTGAGCCTGGAAGTGACAAAGACCCACCCCTGTCCCCACTCAGGCCACCTGCTGCTCCGATCACCTGCACTGCTGCCCCCAAGACACTGTGTGTGACCTGATCCAGAGTAAGTGCCTCTCCAAGGAGAACGCTACCACGGACCTCCTCACTAAGCTGCCTGCGCACACAGGTACCAGAGGCAGGGTGCAGATACAGGGGTGGGGCCCCCTTTCCTCCCT
AAAAAAAAAAGAGAAAAAGAAAAAGAAATGCCATGTAAATAGTTGTGATCCTGAATTGTTTAGGGAATAATAAGAAAGAACTATCTGTAGATGTTCAGTATAGATGCACCCATCGTAAGCCTAACTACATTGTATAACTCAGCAACGATGTAACATTTTCAGGGGTTTTTTTGTTTTGTTTTTTGAGACAGAATCTCAGTCTCACTCTGTCACCCAGGCTGGAGTATGTTGGCGTGATCTCTGCTCACTGCAACCTCCACCTCCTGGGCTCAAGCGATTCTCCTGCCTCAGCCTCTTGAGTAGCTGGGATTGCAGGTGTGCGCTACCACGCATGGCTAATTTTTGTATTTTTAATAGAGATGGGGTTTTACCACGTTGGTCAGGCTGGTCTTGAACTCCTGACCTTGGGATCCGCCCACCTGGGCCTCCCAAAGTGCTGGGATTACAGGCGTTAGCCACCGCGCCCAATATATTTTGATCCCTGGTTGGATATGGAGGGCTGACTGTACTTAACATCTCTAAGCTTCAGTTTCCTCCTTTAAAATAAAGGTGTGGCTGGGTGTGGTGGTTCAAGCCTGTAATCCCAGCACTTAGGGAGGCTGAGGTGGGTGGATCAGCTGAGGTCAGGAGTTCAAGACCAGCCTGACCAATATGGTGAAACCCCCTCTCTGCTAAAAATACAAAAATTAGCCAGGCGTGGTGGCGAGCGCCTGTAGTCCCAGCTACTTGCTTGAACTTGGGAGGCAGAGGTTGCAGTGAGCTGAGATCGTGCCACTGAACTCGAGCATGGGCAACAGAGCAAGACTGTCTCAAAAAAAAAAAAAAAAAGGGGGTGAGCAGACGTGGTGGCACGCTCCCACAGTCCCAGCTACTTAGTAGGAGGCCAAGGTTGGAGGATTGCTTGATCCCAGGAGTCTGAGTCCAGCCTGGGCAACATGGCAATACCTCATCTCTAAAAATAAAATAAAAGTAAAGGTATTAATTACTACTTTGGATGGTTGTTGCAAAGAAATATATATAAAATAATGGAGAGTCTTGTAACTGGCTCCCAAGAGGCTCAACAGACATTACTGTTTTTGCTTCTTCATTATGAGTTACCTCTCTGGCCACCCCACTGAACTAGCTGGGCTAGCTGAGCCTGGGAGAAGAGTTGTTTAGGAAGTGAGAGGCTGCTCTCCACAGAGACTCAAGGCTCAGTTCCTCCTGGTGACTCAGATGGGCAGCCCAGTGGGCACACGTGGTCTCTCTCCACATGTGGCTGAGTTTCACTTCCAGAATAGATGGAGAGGCAAGGGCAGGGTTTAGCATGCTTGAGGAATCTCAGAGGGCCCTGGTGGTGTGGGGGACCCTCAGAACACAGGTGTCTCAAGGGCTGACCCAGCTTCTGTGTCCTTTTCTCTGGGTGAGGAGGGGACATTCATGGGCAGATGGTGACCTCTGGGGAAGGCAGCCCAGACTCCACTGGCCACCATATTTCCTTTTTCACAACTTTCTCACCCCTGTGGTTTCCCATGTCATCATGTGGCCGCTTCCCGCAAGGCCTTAGCGGGGTGCAGGTATGAACATAGTGTCAGGCAAGGAGGCATCTGGAGGGGAACCCTGGCTTTTCCTGGGGGGACTCCCTCCCTGCACCCTAGCCCTGTCCTCTCCCATGGCTACTGATGCCTTCCCCTCACCCCAGAGGTGGCCCACATCTGCACAGATCAGACCCACAAAAATCACGTCTTCCTGACTCTCATAAGCCTGCCCAGTGAGGCCCAGGCATTAGGCCATGTGCTGGGGACTCAGACCCACACATATACGCATGTCAGCATTCATGCTTACAGGTCCGCACATGCTGGGGCAAGTGTCACACACGGGGCGCTGTAGGAAGCTGACTCTCAGCCCCTGCAGATTTCTGCCTGCCTGGACAGGGAGGTGTTGAGAAGGCTCAGGCAGTCCTGGGCCAGGACCTTGGCCTGGGGCTAGGGTACTGAGTGACCCTAGAATCAAGGGTGGCGTGGGCTTAAGCAGTTGCCAGACGTTCCTTGGTACTTTGCAGGCAGACCGTGTGGACCCTGGTGAGCTGGGTGGCCTTAACAGCAGGGCTGGTGGCTGGAACGCGGTGCCCAGATGGTCAGTTCTGCCCTGTGGCCTGCTGCCTGGACCCCGGAGGAGCCAGCTACAGCTGCTGCCGTCCCCTTCTGGTGAGTGCCCCTCAGCCTAGGCAAGAGCTGGCAGCCTGGGTTTTCCCAAAGGGTCATCTTGGATTGGCCAGAGGAGGACGCCAGGCACAAGTCTGTGGTTTATCATTTTCCCTGTCTTTCTAGGACAAATGGCCCACAACACTGAGCAGGCATCTGGGTGGCCCCTGCCAGGTTGATGCCCACTGCTCTGCCGGCCACTCCTGCATCTTTACCGTCTCAGGGACTTCCAGTTGCTGCCCCTTCCCAGAGGTGAGCGTGCCATCAGCCCAGTGGAGGGGCTTAGGTCTGCATTTATGCTTTTCCTGCACTCTACCACCTGCAGATAAAAGGGCCCTGCCAATGCAGGTTTCTCTGTGTTCCACAGGCCGTGGCATGCGGGGATGGCCATCACTGCTGCCCACGGGGCTTCCACTGCAGTGCAGACGGGCGATCCTGCTTCCAAAGATCAGGTGCAGCTGGGGTGTGGGTGCAGGGCAGGCAGACGGGCAGCATGTGGAGTCTGGAACCCAGGAGCCCAGCTGGCGGGGGCAGCCCTGATTCCTGCCCTTGTGCCCTCATTCATGTGGCATCTGTACTAAGCAACAGCCCTGCTGTGGACAGAGGGGCAGCACTGGGGATAGGAGGGTGCGGGAGAAAGTGCAAGACTCCAGGTCCAGGCGTTGTGGGGGTGGGGAGAGGTCGAGCTGGGCCGGTCTAATACCAACCCATGGTCAGTGGGTGCCCCTTCCCCATGCCATCTTGCTGAGGGAGGGACTGGATTGTGAGGAGGGTGAGTTAGGCCTGCCTAGGAGATCACTGAGCCTTAGTGTCACCCTCAAACCCCAGTAGCTGGGCTTGCAGGCCCTGGTGCCACCAGCTCCTTGTGTGATGGGGGAGTCACCTTCCCTGAGTGGGCTGGTAGTATCCTGGGTCATCTTGTCCACAGGTAACAACTCCGTGGGTGCCATCCAGTGCCCTGATAGTCAGTTCGAATGCCCGGACTTCTCCACGTGCTGTGTTATGGTCGATGGCTCCTGGGGGTGCTGCCCCATGCCCCAGGTACAAATCTGGGGGAGATGGGGGTATGTGGAGGGAAGTGGGGGCAGAGTTGGGGGCCAGGGGCAGGGGGTGAAGACGGAGTCAGGACCATTTTTTCTCAGGCTTCCTGCTGTGAAGACAGGGTGCACTGCTGTCCGCACGGTGCCTTCTGCGACCTGGTTCACACCCGCTGCATCACACCCACGGGCACCCACCCCCTGGCAAAGAAGCTCCCTGCCCAGAGGACTAACAGGGCAGGTGAGGAGGTGGGAGAGCATCAGGCCAGGGGCTGGGGCGGGGCCTCATTGACTCCAAGTGTAGGAAAAAGTTTCCTCCATCCTGGCTGCCCCTCACGTTTGCTCCTCTTCCAGTGGCCTTGTCCAGCTCGGTCATGTGTCCGGACGCACGGTCCCGGTGCCCTGATGGTTCTACCTGCTGTGAGCTGCCCAGTGGGAAGTATGGCTGCTGCCCAATGCCCAACGTGAGTGAGGGGCTGGAGCCAGCTTGGCTGTGTGCCCCCAGCCACCTGGCCCTGACACGCACCTTACAGGGGCTCTGTGGCATGGGGCTGGCTGGCTGCTTGCTGGGAGCCTGGCTGATGCAGGGTTCATGCTACCCCCTAGTGGGGGATTGGGGCAGTGCCAGCCATCAGCCTGGCTGCTCCCTGTGTGCTACTGAGCCTGGAAGTGACAAAGACCCACCCCTGTCCCCACTCAGGCCACCTGCTGCTCCGATCACCTGCACTGCTGCCCCCAAGACACTGTGTGTGACCTGATCCAGAGTAAGTGCCTCTCCAAGGAGAACGCTACCACGGACCTCCTCACTAAGCTGCCTGCGCACACAGGTACCAGAGGCAGGGTGCAGATACAGGGGTGGGGCCCCCTTTCCTCCCT
Task1_train_24714
A genomic change on Chromosome 17 affects GRN (granulin precursor). Classify this variant as benign or pathogenic, and name the disease if relevant.
Pathogenic; Neuronal ceroid lipofuscinosis 11
AAAAAAAAAGAGAAAAAGAAAAAGAAATGCCATGTAAATAGTTGTGATCCTGAATTGTTTAGGGAATAATAAGAAAGAACTATCTGTAGATGTTCAGTATAGATGCACCCATCGTAAGCCTAACTACATTGTATAACTCAGCAACGATGTAACATTTTCAGGGGTTTTTTTGTTTTGTTTTTTGAGACAGAATCTCAGTCTCACTCTGTCACCCAGGCTGGAGTATGTTGGCGTGATCTCTGCTCACTGCAACCTCCACCTCCTGGGCTCAAGCGATTCTCCTGCCTCAGCCTCTTGAGTAGCTGGGATTGCAGGTGTGCGCTACCACGCATGGCTAATTTTTGTATTTTTAATAGAGATGGGGTTTTACCACGTTGGTCAGGCTGGTCTTGAACTCCTGACCTTGGGATCCGCCCACCTGGGCCTCCCAAAGTGCTGGGATTACAGGCGTTAGCCACCGCGCCCAATATATTTTGATCCCTGGTTGGATATGGAGGGCTGACTGTACTTAACATCTCTAAGCTTCAGTTTCCTCCTTTAAAATAAAGGTGTGGCTGGGTGTGGTGGTTCAAGCCTGTAATCCCAGCACTTAGGGAGGCTGAGGTGGGTGGATCAGCTGAGGTCAGGAGTTCAAGACCAGCCTGACCAATATGGTGAAACCCCCTCTCTGCTAAAAATACAAAAATTAGCCAGGCGTGGTGGCGAGCGCCTGTAGTCCCAGCTACTTGCTTGAACTTGGGAGGCAGAGGTTGCAGTGAGCTGAGATCGTGCCACTGAACTCGAGCATGGGCAACAGAGCAAGACTGTCTCAAAAAAAAAAAAAAAAAGGGGGTGAGCAGACGTGGTGGCACGCTCCCACAGTCCCAGCTACTTAGTAGGAGGCCAAGGTTGGAGGATTGCTTGATCCCAGGAGTCTGAGTCCAGCCTGGGCAACATGGCAATACCTCATCTCTAAAAATAAAATAAAAGTAAAGGTATTAATTACTACTTTGGATGGTTGTTGCAAAGAAATATATATAAAATAATGGAGAGTCTTGTAACTGGCTCCCAAGAGGCTCAACAGACATTACTGTTTTTGCTTCTTCATTATGAGTTACCTCTCTGGCCACCCCACTGAACTAGCTGGGCTAGCTGAGCCTGGGAGAAGAGTTGTTTAGGAAGTGAGAGGCTGCTCTCCACAGAGACTCAAGGCTCAGTTCCTCCTGGTGACTCAGATGGGCAGCCCAGTGGGCACACGTGGTCTCTCTCCACATGTGGCTGAGTTTCACTTCCAGAATAGATGGAGAGGCAAGGGCAGGGTTTAGCATGCTTGAGGAATCTCAGAGGGCCCTGGTGGTGTGGGGGACCCTCAGAACACAGGTGTCTCAAGGGCTGACCCAGCTTCTGTGTCCTTTTCTCTGGGTGAGGAGGGGACATTCATGGGCAGATGGTGACCTCTGGGGAAGGCAGCCCAGACTCCACTGGCCACCATATTTCCTTTTTCACAACTTTCTCACCCCTGTGGTTTCCCATGTCATCATGTGGCCGCTTCCCGCAAGGCCTTAGCGGGGTGCAGGTATGAACATAGTGTCAGGCAAGGAGGCATCTGGAGGGGAACCCTGGCTTTTCCTGGGGGGACTCCCTCCCTGCACCCTAGCCCTGTCCTCTCCCATGGCTACTGATGCCTTCCCCTCACCCCAGAGGTGGCCCACATCTGCACAGATCAGACCCACAAAAATCACGTCTTCCTGACTCTCATAAGCCTGCCCAGTGAGGCCCAGGCATTAGGCCATGTGCTGGGGACTCAGACCCACACATATACGCATGTCAGCATTCATGCTTACAGGTCCGCACATGCTGGGGCAAGTGTCACACACGGGGCGCTGTAGGAAGCTGACTCTCAGCCCCTGCAGATTTCTGCCTGCCTGGACAGGGAGGTGTTGAGAAGGCTCAGGCAGTCCTGGGCCAGGACCTTGGCCTGGGGCTAGGGTACTGAGTGACCCTAGAATCAAGGGTGGCGTGGGCTTAAGCAGTTGCCAGACGTTCCTTGGTACTTTGCAGGCAGACCATGTGGACCCTGGTGAGCTGGGTGGCCTTAACAGCAGGGCTGGTGGCTGGAACGCGGTGCCCAGATGGTCAGTTCTGCCCTGTGGCCTGCTGCCTGGACCCCGGAGGAGCCAGCTACAGCTGCTGCCGTCCCCTTCTGGTGAGTGCCCCTCAGCCTAGGCAAGAGCTGGCAGCCTGGGTTTTCCCAAAGGGTCATCTTGGATTGGCCAGAGGAGGACGCCAGGCACAAGTCTGTGGTTTATCATTTTCCCTGTCTTTCTAGGACAAATGGCCCACAACACTGAGCAGGCATCTGGGTGGCCCCTGCCAGGTTGATGCCCACTGCTCTGCCGGCCACTCCTGCATCTTTACCGTCTCAGGGACTTCCAGTTGCTGCCCCTTCCCAGAGGTGAGCGTGCCATCAGCCCAGTGGAGGGGCTTAGGTCTGCATTTATGCTTTTCCTGCACTCTACCACCTGCAGATAAAAGGGCCCTGCCAATGCAGGTTTCTCTGTGTTCCACAGGCCGTGGCATGCGGGGATGGCCATCACTGCTGCCCACGGGGCTTCCACTGCAGTGCAGACGGGCGATCCTGCTTCCAAAGATCAGGTGCAGCTGGGGTGTGGGTGCAGGGCAGGCAGACGGGCAGCATGTGGAGTCTGGAACCCAGGAGCCCAGCTGGCGGGGGCAGCCCTGATTCCTGCCCTTGTGCCCTCATTCATGTGGCATCTGTACTAAGCAACAGCCCTGCTGTGGACAGAGGGGCAGCACTGGGGATAGGAGGGTGCGGGAGAAAGTGCAAGACTCCAGGTCCAGGCGTTGTGGGGGTGGGGAGAGGTCGAGCTGGGCCGGTCTAATACCAACCCATGGTCAGTGGGTGCCCCTTCCCCATGCCATCTTGCTGAGGGAGGGACTGGATTGTGAGGAGGGTGAGTTAGGCCTGCCTAGGAGATCACTGAGCCTTAGTGTCACCCTCAAACCCCAGTAGCTGGGCTTGCAGGCCCTGGTGCCACCAGCTCCTTGTGTGATGGGGGAGTCACCTTCCCTGAGTGGGCTGGTAGTATCCTGGGTCATCTTGTCCACAGGTAACAACTCCGTGGGTGCCATCCAGTGCCCTGATAGTCAGTTCGAATGCCCGGACTTCTCCACGTGCTGTGTTATGGTCGATGGCTCCTGGGGGTGCTGCCCCATGCCCCAGGTACAAATCTGGGGGAGATGGGGGTATGTGGAGGGAAGTGGGGGCAGAGTTGGGGGCCAGGGGCAGGGGGTGAAGACGGAGTCAGGACCATTTTTTCTCAGGCTTCCTGCTGTGAAGACAGGGTGCACTGCTGTCCGCACGGTGCCTTCTGCGACCTGGTTCACACCCGCTGCATCACACCCACGGGCACCCACCCCCTGGCAAAGAAGCTCCCTGCCCAGAGGACTAACAGGGCAGGTGAGGAGGTGGGAGAGCATCAGGCCAGGGGCTGGGGCGGGGCCTCATTGACTCCAAGTGTAGGAAAAAGTTTCCTCCATCCTGGCTGCCCCTCACGTTTGCTCCTCTTCCAGTGGCCTTGTCCAGCTCGGTCATGTGTCCGGACGCACGGTCCCGGTGCCCTGATGGTTCTACCTGCTGTGAGCTGCCCAGTGGGAAGTATGGCTGCTGCCCAATGCCCAACGTGAGTGAGGGGCTGGAGCCAGCTTGGCTGTGTGCCCCCAGCCACCTGGCCCTGACACGCACCTTACAGGGGCTCTGTGGCATGGGGCTGGCTGGCTGCTTGCTGGGAGCCTGGCTGATGCAGGGTTCATGCTACCCCCTAGTGGGGGATTGGGGCAGTGCCAGCCATCAGCCTGGCTGCTCCCTGTGTGCTACTGAGCCTGGAAGTGACAAAGACCCACCCCTGTCCCCACTCAGGCCACCTGCTGCTCCGATCACCTGCACTGCTGCCCCCAAGACACTGTGTGTGACCTGATCCAGAGTAAGTGCCTCTCCAAGGAGAACGCTACCACGGACCTCCTCACTAAGCTGCCTGCGCACACAGGTACCAGAGGCAGGGTGCAGATACAGGGGTGGGGCCCCCTTTCCTCCCTT
AAAAAAAAAGAGAAAAAGAAAAAGAAATGCCATGTAAATAGTTGTGATCCTGAATTGTTTAGGGAATAATAAGAAAGAACTATCTGTAGATGTTCAGTATAGATGCACCCATCGTAAGCCTAACTACATTGTATAACTCAGCAACGATGTAACATTTTCAGGGGTTTTTTTGTTTTGTTTTTTGAGACAGAATCTCAGTCTCACTCTGTCACCCAGGCTGGAGTATGTTGGCGTGATCTCTGCTCACTGCAACCTCCACCTCCTGGGCTCAAGCGATTCTCCTGCCTCAGCCTCTTGAGTAGCTGGGATTGCAGGTGTGCGCTACCACGCATGGCTAATTTTTGTATTTTTAATAGAGATGGGGTTTTACCACGTTGGTCAGGCTGGTCTTGAACTCCTGACCTTGGGATCCGCCCACCTGGGCCTCCCAAAGTGCTGGGATTACAGGCGTTAGCCACCGCGCCCAATATATTTTGATCCCTGGTTGGATATGGAGGGCTGACTGTACTTAACATCTCTAAGCTTCAGTTTCCTCCTTTAAAATAAAGGTGTGGCTGGGTGTGGTGGTTCAAGCCTGTAATCCCAGCACTTAGGGAGGCTGAGGTGGGTGGATCAGCTGAGGTCAGGAGTTCAAGACCAGCCTGACCAATATGGTGAAACCCCCTCTCTGCTAAAAATACAAAAATTAGCCAGGCGTGGTGGCGAGCGCCTGTAGTCCCAGCTACTTGCTTGAACTTGGGAGGCAGAGGTTGCAGTGAGCTGAGATCGTGCCACTGAACTCGAGCATGGGCAACAGAGCAAGACTGTCTCAAAAAAAAAAAAAAAAAGGGGGTGAGCAGACGTGGTGGCACGCTCCCACAGTCCCAGCTACTTAGTAGGAGGCCAAGGTTGGAGGATTGCTTGATCCCAGGAGTCTGAGTCCAGCCTGGGCAACATGGCAATACCTCATCTCTAAAAATAAAATAAAAGTAAAGGTATTAATTACTACTTTGGATGGTTGTTGCAAAGAAATATATATAAAATAATGGAGAGTCTTGTAACTGGCTCCCAAGAGGCTCAACAGACATTACTGTTTTTGCTTCTTCATTATGAGTTACCTCTCTGGCCACCCCACTGAACTAGCTGGGCTAGCTGAGCCTGGGAGAAGAGTTGTTTAGGAAGTGAGAGGCTGCTCTCCACAGAGACTCAAGGCTCAGTTCCTCCTGGTGACTCAGATGGGCAGCCCAGTGGGCACACGTGGTCTCTCTCCACATGTGGCTGAGTTTCACTTCCAGAATAGATGGAGAGGCAAGGGCAGGGTTTAGCATGCTTGAGGAATCTCAGAGGGCCCTGGTGGTGTGGGGGACCCTCAGAACACAGGTGTCTCAAGGGCTGACCCAGCTTCTGTGTCCTTTTCTCTGGGTGAGGAGGGGACATTCATGGGCAGATGGTGACCTCTGGGGAAGGCAGCCCAGACTCCACTGGCCACCATATTTCCTTTTTCACAACTTTCTCACCCCTGTGGTTTCCCATGTCATCATGTGGCCGCTTCCCGCAAGGCCTTAGCGGGGTGCAGGTATGAACATAGTGTCAGGCAAGGAGGCATCTGGAGGGGAACCCTGGCTTTTCCTGGGGGGACTCCCTCCCTGCACCCTAGCCCTGTCCTCTCCCATGGCTACTGATGCCTTCCCCTCACCCCAGAGGTGGCCCACATCTGCACAGATCAGACCCACAAAAATCACGTCTTCCTGACTCTCATAAGCCTGCCCAGTGAGGCCCAGGCATTAGGCCATGTGCTGGGGACTCAGACCCACACATATACGCATGTCAGCATTCATGCTTACAGGTCCGCACATGCTGGGGCAAGTGTCACACACGGGGCGCTGTAGGAAGCTGACTCTCAGCCCCTGCAGATTTCTGCCTGCCTGGACAGGGAGGTGTTGAGAAGGCTCAGGCAGTCCTGGGCCAGGACCTTGGCCTGGGGCTAGGGTACTGAGTGACCCTAGAATCAAGGGTGGCGTGGGCTTAAGCAGTTGCCAGACGTTCCTTGGTACTTTGCAGGCAGACCACGTGGACCCTGGTGAGCTGGGTGGCCTTAACAGCAGGGCTGGTGGCTGGAACGCGGTGCCCAGATGGTCAGTTCTGCCCTGTGGCCTGCTGCCTGGACCCCGGAGGAGCCAGCTACAGCTGCTGCCGTCCCCTTCTGGTGAGTGCCCCTCAGCCTAGGCAAGAGCTGGCAGCCTGGGTTTTCCCAAAGGGTCATCTTGGATTGGCCAGAGGAGGACGCCAGGCACAAGTCTGTGGTTTATCATTTTCCCTGTCTTTCTAGGACAAATGGCCCACAACACTGAGCAGGCATCTGGGTGGCCCCTGCCAGGTTGATGCCCACTGCTCTGCCGGCCACTCCTGCATCTTTACCGTCTCAGGGACTTCCAGTTGCTGCCCCTTCCCAGAGGTGAGCGTGCCATCAGCCCAGTGGAGGGGCTTAGGTCTGCATTTATGCTTTTCCTGCACTCTACCACCTGCAGATAAAAGGGCCCTGCCAATGCAGGTTTCTCTGTGTTCCACAGGCCGTGGCATGCGGGGATGGCCATCACTGCTGCCCACGGGGCTTCCACTGCAGTGCAGACGGGCGATCCTGCTTCCAAAGATCAGGTGCAGCTGGGGTGTGGGTGCAGGGCAGGCAGACGGGCAGCATGTGGAGTCTGGAACCCAGGAGCCCAGCTGGCGGGGGCAGCCCTGATTCCTGCCCTTGTGCCCTCATTCATGTGGCATCTGTACTAAGCAACAGCCCTGCTGTGGACAGAGGGGCAGCACTGGGGATAGGAGGGTGCGGGAGAAAGTGCAAGACTCCAGGTCCAGGCGTTGTGGGGGTGGGGAGAGGTCGAGCTGGGCCGGTCTAATACCAACCCATGGTCAGTGGGTGCCCCTTCCCCATGCCATCTTGCTGAGGGAGGGACTGGATTGTGAGGAGGGTGAGTTAGGCCTGCCTAGGAGATCACTGAGCCTTAGTGTCACCCTCAAACCCCAGTAGCTGGGCTTGCAGGCCCTGGTGCCACCAGCTCCTTGTGTGATGGGGGAGTCACCTTCCCTGAGTGGGCTGGTAGTATCCTGGGTCATCTTGTCCACAGGTAACAACTCCGTGGGTGCCATCCAGTGCCCTGATAGTCAGTTCGAATGCCCGGACTTCTCCACGTGCTGTGTTATGGTCGATGGCTCCTGGGGGTGCTGCCCCATGCCCCAGGTACAAATCTGGGGGAGATGGGGGTATGTGGAGGGAAGTGGGGGCAGAGTTGGGGGCCAGGGGCAGGGGGTGAAGACGGAGTCAGGACCATTTTTTCTCAGGCTTCCTGCTGTGAAGACAGGGTGCACTGCTGTCCGCACGGTGCCTTCTGCGACCTGGTTCACACCCGCTGCATCACACCCACGGGCACCCACCCCCTGGCAAAGAAGCTCCCTGCCCAGAGGACTAACAGGGCAGGTGAGGAGGTGGGAGAGCATCAGGCCAGGGGCTGGGGCGGGGCCTCATTGACTCCAAGTGTAGGAAAAAGTTTCCTCCATCCTGGCTGCCCCTCACGTTTGCTCCTCTTCCAGTGGCCTTGTCCAGCTCGGTCATGTGTCCGGACGCACGGTCCCGGTGCCCTGATGGTTCTACCTGCTGTGAGCTGCCCAGTGGGAAGTATGGCTGCTGCCCAATGCCCAACGTGAGTGAGGGGCTGGAGCCAGCTTGGCTGTGTGCCCCCAGCCACCTGGCCCTGACACGCACCTTACAGGGGCTCTGTGGCATGGGGCTGGCTGGCTGCTTGCTGGGAGCCTGGCTGATGCAGGGTTCATGCTACCCCCTAGTGGGGGATTGGGGCAGTGCCAGCCATCAGCCTGGCTGCTCCCTGTGTGCTACTGAGCCTGGAAGTGACAAAGACCCACCCCTGTCCCCACTCAGGCCACCTGCTGCTCCGATCACCTGCACTGCTGCCCCCAAGACACTGTGTGTGACCTGATCCAGAGTAAGTGCCTCTCCAAGGAGAACGCTACCACGGACCTCCTCACTAAGCTGCCTGCGCACACAGGTACCAGAGGCAGGGTGCAGATACAGGGGTGGGGCCCCCTTTCCTCCCTT
Task1_train_24715
A mutation in GRN (granulin precursor), located on Chromosome 17, is being studied. Determine whether it’s pathogenic or benign, and specify the linked disease.
Pathogenic; GRN-related frontotemporal lobar degeneration with Tdp43 inclusions
AAAAAAAAAGAGAAAAAGAAAAAGAAATGCCATGTAAATAGTTGTGATCCTGAATTGTTTAGGGAATAATAAGAAAGAACTATCTGTAGATGTTCAGTATAGATGCACCCATCGTAAGCCTAACTACATTGTATAACTCAGCAACGATGTAACATTTTCAGGGGTTTTTTTGTTTTGTTTTTTGAGACAGAATCTCAGTCTCACTCTGTCACCCAGGCTGGAGTATGTTGGCGTGATCTCTGCTCACTGCAACCTCCACCTCCTGGGCTCAAGCGATTCTCCTGCCTCAGCCTCTTGAGTAGCTGGGATTGCAGGTGTGCGCTACCACGCATGGCTAATTTTTGTATTTTTAATAGAGATGGGGTTTTACCACGTTGGTCAGGCTGGTCTTGAACTCCTGACCTTGGGATCCGCCCACCTGGGCCTCCCAAAGTGCTGGGATTACAGGCGTTAGCCACCGCGCCCAATATATTTTGATCCCTGGTTGGATATGGAGGGCTGACTGTACTTAACATCTCTAAGCTTCAGTTTCCTCCTTTAAAATAAAGGTGTGGCTGGGTGTGGTGGTTCAAGCCTGTAATCCCAGCACTTAGGGAGGCTGAGGTGGGTGGATCAGCTGAGGTCAGGAGTTCAAGACCAGCCTGACCAATATGGTGAAACCCCCTCTCTGCTAAAAATACAAAAATTAGCCAGGCGTGGTGGCGAGCGCCTGTAGTCCCAGCTACTTGCTTGAACTTGGGAGGCAGAGGTTGCAGTGAGCTGAGATCGTGCCACTGAACTCGAGCATGGGCAACAGAGCAAGACTGTCTCAAAAAAAAAAAAAAAAAGGGGGTGAGCAGACGTGGTGGCACGCTCCCACAGTCCCAGCTACTTAGTAGGAGGCCAAGGTTGGAGGATTGCTTGATCCCAGGAGTCTGAGTCCAGCCTGGGCAACATGGCAATACCTCATCTCTAAAAATAAAATAAAAGTAAAGGTATTAATTACTACTTTGGATGGTTGTTGCAAAGAAATATATATAAAATAATGGAGAGTCTTGTAACTGGCTCCCAAGAGGCTCAACAGACATTACTGTTTTTGCTTCTTCATTATGAGTTACCTCTCTGGCCACCCCACTGAACTAGCTGGGCTAGCTGAGCCTGGGAGAAGAGTTGTTTAGGAAGTGAGAGGCTGCTCTCCACAGAGACTCAAGGCTCAGTTCCTCCTGGTGACTCAGATGGGCAGCCCAGTGGGCACACGTGGTCTCTCTCCACATGTGGCTGAGTTTCACTTCCAGAATAGATGGAGAGGCAAGGGCAGGGTTTAGCATGCTTGAGGAATCTCAGAGGGCCCTGGTGGTGTGGGGGACCCTCAGAACACAGGTGTCTCAAGGGCTGACCCAGCTTCTGTGTCCTTTTCTCTGGGTGAGGAGGGGACATTCATGGGCAGATGGTGACCTCTGGGGAAGGCAGCCCAGACTCCACTGGCCACCATATTTCCTTTTTCACAACTTTCTCACCCCTGTGGTTTCCCATGTCATCATGTGGCCGCTTCCCGCAAGGCCTTAGCGGGGTGCAGGTATGAACATAGTGTCAGGCAAGGAGGCATCTGGAGGGGAACCCTGGCTTTTCCTGGGGGGACTCCCTCCCTGCACCCTAGCCCTGTCCTCTCCCATGGCTACTGATGCCTTCCCCTCACCCCAGAGGTGGCCCACATCTGCACAGATCAGACCCACAAAAATCACGTCTTCCTGACTCTCATAAGCCTGCCCAGTGAGGCCCAGGCATTAGGCCATGTGCTGGGGACTCAGACCCACACATATACGCATGTCAGCATTCATGCTTACAGGTCCGCACATGCTGGGGCAAGTGTCACACACGGGGCGCTGTAGGAAGCTGACTCTCAGCCCCTGCAGATTTCTGCCTGCCTGGACAGGGAGGTGTTGAGAAGGCTCAGGCAGTCCTGGGCCAGGACCTTGGCCTGGGGCTAGGGTACTGAGTGACCCTAGAATCAAGGGTGGCGTGGGCTTAAGCAGTTGCCAGACGTTCCTTGGTACTTTGCAGGCAGACCATGTGGACCCTGGTGAGCTGGGTGGCCTTAACAGCAGGGCTGGTGGCTGGAACGCGGTGCCCAGATGGTCAGTTCTGCCCTGTGGCCTGCTGCCTGGACCCCGGAGGAGCCAGCTACAGCTGCTGCCGTCCCCTTCTGGTGAGTGCCCCTCAGCCTAGGCAAGAGCTGGCAGCCTGGGTTTTCCCAAAGGGTCATCTTGGATTGGCCAGAGGAGGACGCCAGGCACAAGTCTGTGGTTTATCATTTTCCCTGTCTTTCTAGGACAAATGGCCCACAACACTGAGCAGGCATCTGGGTGGCCCCTGCCAGGTTGATGCCCACTGCTCTGCCGGCCACTCCTGCATCTTTACCGTCTCAGGGACTTCCAGTTGCTGCCCCTTCCCAGAGGTGAGCGTGCCATCAGCCCAGTGGAGGGGCTTAGGTCTGCATTTATGCTTTTCCTGCACTCTACCACCTGCAGATAAAAGGGCCCTGCCAATGCAGGTTTCTCTGTGTTCCACAGGCCGTGGCATGCGGGGATGGCCATCACTGCTGCCCACGGGGCTTCCACTGCAGTGCAGACGGGCGATCCTGCTTCCAAAGATCAGGTGCAGCTGGGGTGTGGGTGCAGGGCAGGCAGACGGGCAGCATGTGGAGTCTGGAACCCAGGAGCCCAGCTGGCGGGGGCAGCCCTGATTCCTGCCCTTGTGCCCTCATTCATGTGGCATCTGTACTAAGCAACAGCCCTGCTGTGGACAGAGGGGCAGCACTGGGGATAGGAGGGTGCGGGAGAAAGTGCAAGACTCCAGGTCCAGGCGTTGTGGGGGTGGGGAGAGGTCGAGCTGGGCCGGTCTAATACCAACCCATGGTCAGTGGGTGCCCCTTCCCCATGCCATCTTGCTGAGGGAGGGACTGGATTGTGAGGAGGGTGAGTTAGGCCTGCCTAGGAGATCACTGAGCCTTAGTGTCACCCTCAAACCCCAGTAGCTGGGCTTGCAGGCCCTGGTGCCACCAGCTCCTTGTGTGATGGGGGAGTCACCTTCCCTGAGTGGGCTGGTAGTATCCTGGGTCATCTTGTCCACAGGTAACAACTCCGTGGGTGCCATCCAGTGCCCTGATAGTCAGTTCGAATGCCCGGACTTCTCCACGTGCTGTGTTATGGTCGATGGCTCCTGGGGGTGCTGCCCCATGCCCCAGGTACAAATCTGGGGGAGATGGGGGTATGTGGAGGGAAGTGGGGGCAGAGTTGGGGGCCAGGGGCAGGGGGTGAAGACGGAGTCAGGACCATTTTTTCTCAGGCTTCCTGCTGTGAAGACAGGGTGCACTGCTGTCCGCACGGTGCCTTCTGCGACCTGGTTCACACCCGCTGCATCACACCCACGGGCACCCACCCCCTGGCAAAGAAGCTCCCTGCCCAGAGGACTAACAGGGCAGGTGAGGAGGTGGGAGAGCATCAGGCCAGGGGCTGGGGCGGGGCCTCATTGACTCCAAGTGTAGGAAAAAGTTTCCTCCATCCTGGCTGCCCCTCACGTTTGCTCCTCTTCCAGTGGCCTTGTCCAGCTCGGTCATGTGTCCGGACGCACGGTCCCGGTGCCCTGATGGTTCTACCTGCTGTGAGCTGCCCAGTGGGAAGTATGGCTGCTGCCCAATGCCCAACGTGAGTGAGGGGCTGGAGCCAGCTTGGCTGTGTGCCCCCAGCCACCTGGCCCTGACACGCACCTTACAGGGGCTCTGTGGCATGGGGCTGGCTGGCTGCTTGCTGGGAGCCTGGCTGATGCAGGGTTCATGCTACCCCCTAGTGGGGGATTGGGGCAGTGCCAGCCATCAGCCTGGCTGCTCCCTGTGTGCTACTGAGCCTGGAAGTGACAAAGACCCACCCCTGTCCCCACTCAGGCCACCTGCTGCTCCGATCACCTGCACTGCTGCCCCCAAGACACTGTGTGTGACCTGATCCAGAGTAAGTGCCTCTCCAAGGAGAACGCTACCACGGACCTCCTCACTAAGCTGCCTGCGCACACAGGTACCAGAGGCAGGGTGCAGATACAGGGGTGGGGCCCCCTTTCCTCCCTT
AAAAAAAAAGAGAAAAAGAAAAAGAAATGCCATGTAAATAGTTGTGATCCTGAATTGTTTAGGGAATAATAAGAAAGAACTATCTGTAGATGTTCAGTATAGATGCACCCATCGTAAGCCTAACTACATTGTATAACTCAGCAACGATGTAACATTTTCAGGGGTTTTTTTGTTTTGTTTTTTGAGACAGAATCTCAGTCTCACTCTGTCACCCAGGCTGGAGTATGTTGGCGTGATCTCTGCTCACTGCAACCTCCACCTCCTGGGCTCAAGCGATTCTCCTGCCTCAGCCTCTTGAGTAGCTGGGATTGCAGGTGTGCGCTACCACGCATGGCTAATTTTTGTATTTTTAATAGAGATGGGGTTTTACCACGTTGGTCAGGCTGGTCTTGAACTCCTGACCTTGGGATCCGCCCACCTGGGCCTCCCAAAGTGCTGGGATTACAGGCGTTAGCCACCGCGCCCAATATATTTTGATCCCTGGTTGGATATGGAGGGCTGACTGTACTTAACATCTCTAAGCTTCAGTTTCCTCCTTTAAAATAAAGGTGTGGCTGGGTGTGGTGGTTCAAGCCTGTAATCCCAGCACTTAGGGAGGCTGAGGTGGGTGGATCAGCTGAGGTCAGGAGTTCAAGACCAGCCTGACCAATATGGTGAAACCCCCTCTCTGCTAAAAATACAAAAATTAGCCAGGCGTGGTGGCGAGCGCCTGTAGTCCCAGCTACTTGCTTGAACTTGGGAGGCAGAGGTTGCAGTGAGCTGAGATCGTGCCACTGAACTCGAGCATGGGCAACAGAGCAAGACTGTCTCAAAAAAAAAAAAAAAAAGGGGGTGAGCAGACGTGGTGGCACGCTCCCACAGTCCCAGCTACTTAGTAGGAGGCCAAGGTTGGAGGATTGCTTGATCCCAGGAGTCTGAGTCCAGCCTGGGCAACATGGCAATACCTCATCTCTAAAAATAAAATAAAAGTAAAGGTATTAATTACTACTTTGGATGGTTGTTGCAAAGAAATATATATAAAATAATGGAGAGTCTTGTAACTGGCTCCCAAGAGGCTCAACAGACATTACTGTTTTTGCTTCTTCATTATGAGTTACCTCTCTGGCCACCCCACTGAACTAGCTGGGCTAGCTGAGCCTGGGAGAAGAGTTGTTTAGGAAGTGAGAGGCTGCTCTCCACAGAGACTCAAGGCTCAGTTCCTCCTGGTGACTCAGATGGGCAGCCCAGTGGGCACACGTGGTCTCTCTCCACATGTGGCTGAGTTTCACTTCCAGAATAGATGGAGAGGCAAGGGCAGGGTTTAGCATGCTTGAGGAATCTCAGAGGGCCCTGGTGGTGTGGGGGACCCTCAGAACACAGGTGTCTCAAGGGCTGACCCAGCTTCTGTGTCCTTTTCTCTGGGTGAGGAGGGGACATTCATGGGCAGATGGTGACCTCTGGGGAAGGCAGCCCAGACTCCACTGGCCACCATATTTCCTTTTTCACAACTTTCTCACCCCTGTGGTTTCCCATGTCATCATGTGGCCGCTTCCCGCAAGGCCTTAGCGGGGTGCAGGTATGAACATAGTGTCAGGCAAGGAGGCATCTGGAGGGGAACCCTGGCTTTTCCTGGGGGGACTCCCTCCCTGCACCCTAGCCCTGTCCTCTCCCATGGCTACTGATGCCTTCCCCTCACCCCAGAGGTGGCCCACATCTGCACAGATCAGACCCACAAAAATCACGTCTTCCTGACTCTCATAAGCCTGCCCAGTGAGGCCCAGGCATTAGGCCATGTGCTGGGGACTCAGACCCACACATATACGCATGTCAGCATTCATGCTTACAGGTCCGCACATGCTGGGGCAAGTGTCACACACGGGGCGCTGTAGGAAGCTGACTCTCAGCCCCTGCAGATTTCTGCCTGCCTGGACAGGGAGGTGTTGAGAAGGCTCAGGCAGTCCTGGGCCAGGACCTTGGCCTGGGGCTAGGGTACTGAGTGACCCTAGAATCAAGGGTGGCGTGGGCTTAAGCAGTTGCCAGACGTTCCTTGGTACTTTGCAGGCAGACCACGTGGACCCTGGTGAGCTGGGTGGCCTTAACAGCAGGGCTGGTGGCTGGAACGCGGTGCCCAGATGGTCAGTTCTGCCCTGTGGCCTGCTGCCTGGACCCCGGAGGAGCCAGCTACAGCTGCTGCCGTCCCCTTCTGGTGAGTGCCCCTCAGCCTAGGCAAGAGCTGGCAGCCTGGGTTTTCCCAAAGGGTCATCTTGGATTGGCCAGAGGAGGACGCCAGGCACAAGTCTGTGGTTTATCATTTTCCCTGTCTTTCTAGGACAAATGGCCCACAACACTGAGCAGGCATCTGGGTGGCCCCTGCCAGGTTGATGCCCACTGCTCTGCCGGCCACTCCTGCATCTTTACCGTCTCAGGGACTTCCAGTTGCTGCCCCTTCCCAGAGGTGAGCGTGCCATCAGCCCAGTGGAGGGGCTTAGGTCTGCATTTATGCTTTTCCTGCACTCTACCACCTGCAGATAAAAGGGCCCTGCCAATGCAGGTTTCTCTGTGTTCCACAGGCCGTGGCATGCGGGGATGGCCATCACTGCTGCCCACGGGGCTTCCACTGCAGTGCAGACGGGCGATCCTGCTTCCAAAGATCAGGTGCAGCTGGGGTGTGGGTGCAGGGCAGGCAGACGGGCAGCATGTGGAGTCTGGAACCCAGGAGCCCAGCTGGCGGGGGCAGCCCTGATTCCTGCCCTTGTGCCCTCATTCATGTGGCATCTGTACTAAGCAACAGCCCTGCTGTGGACAGAGGGGCAGCACTGGGGATAGGAGGGTGCGGGAGAAAGTGCAAGACTCCAGGTCCAGGCGTTGTGGGGGTGGGGAGAGGTCGAGCTGGGCCGGTCTAATACCAACCCATGGTCAGTGGGTGCCCCTTCCCCATGCCATCTTGCTGAGGGAGGGACTGGATTGTGAGGAGGGTGAGTTAGGCCTGCCTAGGAGATCACTGAGCCTTAGTGTCACCCTCAAACCCCAGTAGCTGGGCTTGCAGGCCCTGGTGCCACCAGCTCCTTGTGTGATGGGGGAGTCACCTTCCCTGAGTGGGCTGGTAGTATCCTGGGTCATCTTGTCCACAGGTAACAACTCCGTGGGTGCCATCCAGTGCCCTGATAGTCAGTTCGAATGCCCGGACTTCTCCACGTGCTGTGTTATGGTCGATGGCTCCTGGGGGTGCTGCCCCATGCCCCAGGTACAAATCTGGGGGAGATGGGGGTATGTGGAGGGAAGTGGGGGCAGAGTTGGGGGCCAGGGGCAGGGGGTGAAGACGGAGTCAGGACCATTTTTTCTCAGGCTTCCTGCTGTGAAGACAGGGTGCACTGCTGTCCGCACGGTGCCTTCTGCGACCTGGTTCACACCCGCTGCATCACACCCACGGGCACCCACCCCCTGGCAAAGAAGCTCCCTGCCCAGAGGACTAACAGGGCAGGTGAGGAGGTGGGAGAGCATCAGGCCAGGGGCTGGGGCGGGGCCTCATTGACTCCAAGTGTAGGAAAAAGTTTCCTCCATCCTGGCTGCCCCTCACGTTTGCTCCTCTTCCAGTGGCCTTGTCCAGCTCGGTCATGTGTCCGGACGCACGGTCCCGGTGCCCTGATGGTTCTACCTGCTGTGAGCTGCCCAGTGGGAAGTATGGCTGCTGCCCAATGCCCAACGTGAGTGAGGGGCTGGAGCCAGCTTGGCTGTGTGCCCCCAGCCACCTGGCCCTGACACGCACCTTACAGGGGCTCTGTGGCATGGGGCTGGCTGGCTGCTTGCTGGGAGCCTGGCTGATGCAGGGTTCATGCTACCCCCTAGTGGGGGATTGGGGCAGTGCCAGCCATCAGCCTGGCTGCTCCCTGTGTGCTACTGAGCCTGGAAGTGACAAAGACCCACCCCTGTCCCCACTCAGGCCACCTGCTGCTCCGATCACCTGCACTGCTGCCCCCAAGACACTGTGTGTGACCTGATCCAGAGTAAGTGCCTCTCCAAGGAGAACGCTACCACGGACCTCCTCACTAAGCTGCCTGCGCACACAGGTACCAGAGGCAGGGTGCAGATACAGGGGTGGGGCCCCCTTTCCTCCCTT
Task1_train_24716
A genetic alteration is present in GRN (granulin precursor) on Chromosome 17. Is this variant benign or disease-causing, and if the latter, which condition is involved?
Pathogenic; GRN-related frontotemporal lobar degeneration with Tdp43 inclusions
AAAAAAAAGAGAAAAAGAAAAAGAAATGCCATGTAAATAGTTGTGATCCTGAATTGTTTAGGGAATAATAAGAAAGAACTATCTGTAGATGTTCAGTATAGATGCACCCATCGTAAGCCTAACTACATTGTATAACTCAGCAACGATGTAACATTTTCAGGGGTTTTTTTGTTTTGTTTTTTGAGACAGAATCTCAGTCTCACTCTGTCACCCAGGCTGGAGTATGTTGGCGTGATCTCTGCTCACTGCAACCTCCACCTCCTGGGCTCAAGCGATTCTCCTGCCTCAGCCTCTTGAGTAGCTGGGATTGCAGGTGTGCGCTACCACGCATGGCTAATTTTTGTATTTTTAATAGAGATGGGGTTTTACCACGTTGGTCAGGCTGGTCTTGAACTCCTGACCTTGGGATCCGCCCACCTGGGCCTCCCAAAGTGCTGGGATTACAGGCGTTAGCCACCGCGCCCAATATATTTTGATCCCTGGTTGGATATGGAGGGCTGACTGTACTTAACATCTCTAAGCTTCAGTTTCCTCCTTTAAAATAAAGGTGTGGCTGGGTGTGGTGGTTCAAGCCTGTAATCCCAGCACTTAGGGAGGCTGAGGTGGGTGGATCAGCTGAGGTCAGGAGTTCAAGACCAGCCTGACCAATATGGTGAAACCCCCTCTCTGCTAAAAATACAAAAATTAGCCAGGCGTGGTGGCGAGCGCCTGTAGTCCCAGCTACTTGCTTGAACTTGGGAGGCAGAGGTTGCAGTGAGCTGAGATCGTGCCACTGAACTCGAGCATGGGCAACAGAGCAAGACTGTCTCAAAAAAAAAAAAAAAAAGGGGGTGAGCAGACGTGGTGGCACGCTCCCACAGTCCCAGCTACTTAGTAGGAGGCCAAGGTTGGAGGATTGCTTGATCCCAGGAGTCTGAGTCCAGCCTGGGCAACATGGCAATACCTCATCTCTAAAAATAAAATAAAAGTAAAGGTATTAATTACTACTTTGGATGGTTGTTGCAAAGAAATATATATAAAATAATGGAGAGTCTTGTAACTGGCTCCCAAGAGGCTCAACAGACATTACTGTTTTTGCTTCTTCATTATGAGTTACCTCTCTGGCCACCCCACTGAACTAGCTGGGCTAGCTGAGCCTGGGAGAAGAGTTGTTTAGGAAGTGAGAGGCTGCTCTCCACAGAGACTCAAGGCTCAGTTCCTCCTGGTGACTCAGATGGGCAGCCCAGTGGGCACACGTGGTCTCTCTCCACATGTGGCTGAGTTTCACTTCCAGAATAGATGGAGAGGCAAGGGCAGGGTTTAGCATGCTTGAGGAATCTCAGAGGGCCCTGGTGGTGTGGGGGACCCTCAGAACACAGGTGTCTCAAGGGCTGACCCAGCTTCTGTGTCCTTTTCTCTGGGTGAGGAGGGGACATTCATGGGCAGATGGTGACCTCTGGGGAAGGCAGCCCAGACTCCACTGGCCACCATATTTCCTTTTTCACAACTTTCTCACCCCTGTGGTTTCCCATGTCATCATGTGGCCGCTTCCCGCAAGGCCTTAGCGGGGTGCAGGTATGAACATAGTGTCAGGCAAGGAGGCATCTGGAGGGGAACCCTGGCTTTTCCTGGGGGGACTCCCTCCCTGCACCCTAGCCCTGTCCTCTCCCATGGCTACTGATGCCTTCCCCTCACCCCAGAGGTGGCCCACATCTGCACAGATCAGACCCACAAAAATCACGTCTTCCTGACTCTCATAAGCCTGCCCAGTGAGGCCCAGGCATTAGGCCATGTGCTGGGGACTCAGACCCACACATATACGCATGTCAGCATTCATGCTTACAGGTCCGCACATGCTGGGGCAAGTGTCACACACGGGGCGCTGTAGGAAGCTGACTCTCAGCCCCTGCAGATTTCTGCCTGCCTGGACAGGGAGGTGTTGAGAAGGCTCAGGCAGTCCTGGGCCAGGACCTTGGCCTGGGGCTAGGGTACTGAGTGACCCTAGAATCAAGGGTGGCGTGGGCTTAAGCAGTTGCCAGACGTTCCTTGGTACTTTGCAGGCAGACCATGTGGACCCTGGTGAGCTGGGTGGCCTTAACAGCAGGGCTGGTGGCTGGAACGCGGTGCCCAGATGGTCAGTTCTGCCCTGTGGCCTGCTGCCTGGACCCCGGAGGAGCCAGCTACAGCTGCTGCCGTCCCCTTCTGGTGAGTGCCCCTCAGCCTAGGCAAGAGCTGGCAGCCTGGGTTTTCCCAAAGGGTCATCTTGGATTGGCCAGAGGAGGACGCCAGGCACAAGTCTGTGGTTTATCATTTTCCCTGTCTTTCTAGGACAAATGGCCCACAACACTGAGCAGGCATCTGGGTGGCCCCTGCCAGGTTGATGCCCACTGCTCTGCCGGCCACTCCTGCATCTTTACCGTCTCAGGGACTTCCAGTTGCTGCCCCTTCCCAGAGGTGAGCGTGCCATCAGCCCAGTGGAGGGGCTTAGGTCTGCATTTATGCTTTTCCTGCACTCTACCACCTGCAGATAAAAGGGCCCTGCCAATGCAGGTTTCTCTGTGTTCCACAGGCCGTGGCATGCGGGGATGGCCATCACTGCTGCCCACGGGGCTTCCACTGCAGTGCAGACGGGCGATCCTGCTTCCAAAGATCAGGTGCAGCTGGGGTGTGGGTGCAGGGCAGGCAGACGGGCAGCATGTGGAGTCTGGAACCCAGGAGCCCAGCTGGCGGGGGCAGCCCTGATTCCTGCCCTTGTGCCCTCATTCATGTGGCATCTGTACTAAGCAACAGCCCTGCTGTGGACAGAGGGGCAGCACTGGGGATAGGAGGGTGCGGGAGAAAGTGCAAGACTCCAGGTCCAGGCGTTGTGGGGGTGGGGAGAGGTCGAGCTGGGCCGGTCTAATACCAACCCATGGTCAGTGGGTGCCCCTTCCCCATGCCATCTTGCTGAGGGAGGGACTGGATTGTGAGGAGGGTGAGTTAGGCCTGCCTAGGAGATCACTGAGCCTTAGTGTCACCCTCAAACCCCAGTAGCTGGGCTTGCAGGCCCTGGTGCCACCAGCTCCTTGTGTGATGGGGGAGTCACCTTCCCTGAGTGGGCTGGTAGTATCCTGGGTCATCTTGTCCACAGGTAACAACTCCGTGGGTGCCATCCAGTGCCCTGATAGTCAGTTCGAATGCCCGGACTTCTCCACGTGCTGTGTTATGGTCGATGGCTCCTGGGGGTGCTGCCCCATGCCCCAGGTACAAATCTGGGGGAGATGGGGGTATGTGGAGGGAAGTGGGGGCAGAGTTGGGGGCCAGGGGCAGGGGGTGAAGACGGAGTCAGGACCATTTTTTCTCAGGCTTCCTGCTGTGAAGACAGGGTGCACTGCTGTCCGCACGGTGCCTTCTGCGACCTGGTTCACACCCGCTGCATCACACCCACGGGCACCCACCCCCTGGCAAAGAAGCTCCCTGCCCAGAGGACTAACAGGGCAGGTGAGGAGGTGGGAGAGCATCAGGCCAGGGGCTGGGGCGGGGCCTCATTGACTCCAAGTGTAGGAAAAAGTTTCCTCCATCCTGGCTGCCCCTCACGTTTGCTCCTCTTCCAGTGGCCTTGTCCAGCTCGGTCATGTGTCCGGACGCACGGTCCCGGTGCCCTGATGGTTCTACCTGCTGTGAGCTGCCCAGTGGGAAGTATGGCTGCTGCCCAATGCCCAACGTGAGTGAGGGGCTGGAGCCAGCTTGGCTGTGTGCCCCCAGCCACCTGGCCCTGACACGCACCTTACAGGGGCTCTGTGGCATGGGGCTGGCTGGCTGCTTGCTGGGAGCCTGGCTGATGCAGGGTTCATGCTACCCCCTAGTGGGGGATTGGGGCAGTGCCAGCCATCAGCCTGGCTGCTCCCTGTGTGCTACTGAGCCTGGAAGTGACAAAGACCCACCCCTGTCCCCACTCAGGCCACCTGCTGCTCCGATCACCTGCACTGCTGCCCCCAAGACACTGTGTGTGACCTGATCCAGAGTAAGTGCCTCTCCAAGGAGAACGCTACCACGGACCTCCTCACTAAGCTGCCTGCGCACACAGGTACCAGAGGCAGGGTGCAGATACAGGGGTGGGGCCCCCTTTCCTCCCTTT
AAAAAAAAGAGAAAAAGAAAAAGAAATGCCATGTAAATAGTTGTGATCCTGAATTGTTTAGGGAATAATAAGAAAGAACTATCTGTAGATGTTCAGTATAGATGCACCCATCGTAAGCCTAACTACATTGTATAACTCAGCAACGATGTAACATTTTCAGGGGTTTTTTTGTTTTGTTTTTTGAGACAGAATCTCAGTCTCACTCTGTCACCCAGGCTGGAGTATGTTGGCGTGATCTCTGCTCACTGCAACCTCCACCTCCTGGGCTCAAGCGATTCTCCTGCCTCAGCCTCTTGAGTAGCTGGGATTGCAGGTGTGCGCTACCACGCATGGCTAATTTTTGTATTTTTAATAGAGATGGGGTTTTACCACGTTGGTCAGGCTGGTCTTGAACTCCTGACCTTGGGATCCGCCCACCTGGGCCTCCCAAAGTGCTGGGATTACAGGCGTTAGCCACCGCGCCCAATATATTTTGATCCCTGGTTGGATATGGAGGGCTGACTGTACTTAACATCTCTAAGCTTCAGTTTCCTCCTTTAAAATAAAGGTGTGGCTGGGTGTGGTGGTTCAAGCCTGTAATCCCAGCACTTAGGGAGGCTGAGGTGGGTGGATCAGCTGAGGTCAGGAGTTCAAGACCAGCCTGACCAATATGGTGAAACCCCCTCTCTGCTAAAAATACAAAAATTAGCCAGGCGTGGTGGCGAGCGCCTGTAGTCCCAGCTACTTGCTTGAACTTGGGAGGCAGAGGTTGCAGTGAGCTGAGATCGTGCCACTGAACTCGAGCATGGGCAACAGAGCAAGACTGTCTCAAAAAAAAAAAAAAAAAGGGGGTGAGCAGACGTGGTGGCACGCTCCCACAGTCCCAGCTACTTAGTAGGAGGCCAAGGTTGGAGGATTGCTTGATCCCAGGAGTCTGAGTCCAGCCTGGGCAACATGGCAATACCTCATCTCTAAAAATAAAATAAAAGTAAAGGTATTAATTACTACTTTGGATGGTTGTTGCAAAGAAATATATATAAAATAATGGAGAGTCTTGTAACTGGCTCCCAAGAGGCTCAACAGACATTACTGTTTTTGCTTCTTCATTATGAGTTACCTCTCTGGCCACCCCACTGAACTAGCTGGGCTAGCTGAGCCTGGGAGAAGAGTTGTTTAGGAAGTGAGAGGCTGCTCTCCACAGAGACTCAAGGCTCAGTTCCTCCTGGTGACTCAGATGGGCAGCCCAGTGGGCACACGTGGTCTCTCTCCACATGTGGCTGAGTTTCACTTCCAGAATAGATGGAGAGGCAAGGGCAGGGTTTAGCATGCTTGAGGAATCTCAGAGGGCCCTGGTGGTGTGGGGGACCCTCAGAACACAGGTGTCTCAAGGGCTGACCCAGCTTCTGTGTCCTTTTCTCTGGGTGAGGAGGGGACATTCATGGGCAGATGGTGACCTCTGGGGAAGGCAGCCCAGACTCCACTGGCCACCATATTTCCTTTTTCACAACTTTCTCACCCCTGTGGTTTCCCATGTCATCATGTGGCCGCTTCCCGCAAGGCCTTAGCGGGGTGCAGGTATGAACATAGTGTCAGGCAAGGAGGCATCTGGAGGGGAACCCTGGCTTTTCCTGGGGGGACTCCCTCCCTGCACCCTAGCCCTGTCCTCTCCCATGGCTACTGATGCCTTCCCCTCACCCCAGAGGTGGCCCACATCTGCACAGATCAGACCCACAAAAATCACGTCTTCCTGACTCTCATAAGCCTGCCCAGTGAGGCCCAGGCATTAGGCCATGTGCTGGGGACTCAGACCCACACATATACGCATGTCAGCATTCATGCTTACAGGTCCGCACATGCTGGGGCAAGTGTCACACACGGGGCGCTGTAGGAAGCTGACTCTCAGCCCCTGCAGATTTCTGCCTGCCTGGACAGGGAGGTGTTGAGAAGGCTCAGGCAGTCCTGGGCCAGGACCTTGGCCTGGGGCTAGGGTACTGAGTGACCCTAGAATCAAGGGTGGCGTGGGCTTAAGCAGTTGCCAGACGTTCCTTGGTACTTTGCAGGCAGACCATATGGACCCTGGTGAGCTGGGTGGCCTTAACAGCAGGGCTGGTGGCTGGAACGCGGTGCCCAGATGGTCAGTTCTGCCCTGTGGCCTGCTGCCTGGACCCCGGAGGAGCCAGCTACAGCTGCTGCCGTCCCCTTCTGGTGAGTGCCCCTCAGCCTAGGCAAGAGCTGGCAGCCTGGGTTTTCCCAAAGGGTCATCTTGGATTGGCCAGAGGAGGACGCCAGGCACAAGTCTGTGGTTTATCATTTTCCCTGTCTTTCTAGGACAAATGGCCCACAACACTGAGCAGGCATCTGGGTGGCCCCTGCCAGGTTGATGCCCACTGCTCTGCCGGCCACTCCTGCATCTTTACCGTCTCAGGGACTTCCAGTTGCTGCCCCTTCCCAGAGGTGAGCGTGCCATCAGCCCAGTGGAGGGGCTTAGGTCTGCATTTATGCTTTTCCTGCACTCTACCACCTGCAGATAAAAGGGCCCTGCCAATGCAGGTTTCTCTGTGTTCCACAGGCCGTGGCATGCGGGGATGGCCATCACTGCTGCCCACGGGGCTTCCACTGCAGTGCAGACGGGCGATCCTGCTTCCAAAGATCAGGTGCAGCTGGGGTGTGGGTGCAGGGCAGGCAGACGGGCAGCATGTGGAGTCTGGAACCCAGGAGCCCAGCTGGCGGGGGCAGCCCTGATTCCTGCCCTTGTGCCCTCATTCATGTGGCATCTGTACTAAGCAACAGCCCTGCTGTGGACAGAGGGGCAGCACTGGGGATAGGAGGGTGCGGGAGAAAGTGCAAGACTCCAGGTCCAGGCGTTGTGGGGGTGGGGAGAGGTCGAGCTGGGCCGGTCTAATACCAACCCATGGTCAGTGGGTGCCCCTTCCCCATGCCATCTTGCTGAGGGAGGGACTGGATTGTGAGGAGGGTGAGTTAGGCCTGCCTAGGAGATCACTGAGCCTTAGTGTCACCCTCAAACCCCAGTAGCTGGGCTTGCAGGCCCTGGTGCCACCAGCTCCTTGTGTGATGGGGGAGTCACCTTCCCTGAGTGGGCTGGTAGTATCCTGGGTCATCTTGTCCACAGGTAACAACTCCGTGGGTGCCATCCAGTGCCCTGATAGTCAGTTCGAATGCCCGGACTTCTCCACGTGCTGTGTTATGGTCGATGGCTCCTGGGGGTGCTGCCCCATGCCCCAGGTACAAATCTGGGGGAGATGGGGGTATGTGGAGGGAAGTGGGGGCAGAGTTGGGGGCCAGGGGCAGGGGGTGAAGACGGAGTCAGGACCATTTTTTCTCAGGCTTCCTGCTGTGAAGACAGGGTGCACTGCTGTCCGCACGGTGCCTTCTGCGACCTGGTTCACACCCGCTGCATCACACCCACGGGCACCCACCCCCTGGCAAAGAAGCTCCCTGCCCAGAGGACTAACAGGGCAGGTGAGGAGGTGGGAGAGCATCAGGCCAGGGGCTGGGGCGGGGCCTCATTGACTCCAAGTGTAGGAAAAAGTTTCCTCCATCCTGGCTGCCCCTCACGTTTGCTCCTCTTCCAGTGGCCTTGTCCAGCTCGGTCATGTGTCCGGACGCACGGTCCCGGTGCCCTGATGGTTCTACCTGCTGTGAGCTGCCCAGTGGGAAGTATGGCTGCTGCCCAATGCCCAACGTGAGTGAGGGGCTGGAGCCAGCTTGGCTGTGTGCCCCCAGCCACCTGGCCCTGACACGCACCTTACAGGGGCTCTGTGGCATGGGGCTGGCTGGCTGCTTGCTGGGAGCCTGGCTGATGCAGGGTTCATGCTACCCCCTAGTGGGGGATTGGGGCAGTGCCAGCCATCAGCCTGGCTGCTCCCTGTGTGCTACTGAGCCTGGAAGTGACAAAGACCCACCCCTGTCCCCACTCAGGCCACCTGCTGCTCCGATCACCTGCACTGCTGCCCCCAAGACACTGTGTGTGACCTGATCCAGAGTAAGTGCCTCTCCAAGGAGAACGCTACCACGGACCTCCTCACTAAGCTGCCTGCGCACACAGGTACCAGAGGCAGGGTGCAGATACAGGGGTGGGGCCCCCTTTCCTCCCTTT
Task1_train_24717
A mutation on Chromosome 17 affecting GRN (granulin precursor) has been found. Is it harmful or harmless? What disease, if any, does it cause?
Pathogenic; GRN-related frontotemporal lobar degeneration with Tdp43 inclusions
AAATGCCATGTAAATAGTTGTGATCCTGAATTGTTTAGGGAATAATAAGAAAGAACTATCTGTAGATGTTCAGTATAGATGCACCCATCGTAAGCCTAACTACATTGTATAACTCAGCAACGATGTAACATTTTCAGGGGTTTTTTTGTTTTGTTTTTTGAGACAGAATCTCAGTCTCACTCTGTCACCCAGGCTGGAGTATGTTGGCGTGATCTCTGCTCACTGCAACCTCCACCTCCTGGGCTCAAGCGATTCTCCTGCCTCAGCCTCTTGAGTAGCTGGGATTGCAGGTGTGCGCTACCACGCATGGCTAATTTTTGTATTTTTAATAGAGATGGGGTTTTACCACGTTGGTCAGGCTGGTCTTGAACTCCTGACCTTGGGATCCGCCCACCTGGGCCTCCCAAAGTGCTGGGATTACAGGCGTTAGCCACCGCGCCCAATATATTTTGATCCCTGGTTGGATATGGAGGGCTGACTGTACTTAACATCTCTAAGCTTCAGTTTCCTCCTTTAAAATAAAGGTGTGGCTGGGTGTGGTGGTTCAAGCCTGTAATCCCAGCACTTAGGGAGGCTGAGGTGGGTGGATCAGCTGAGGTCAGGAGTTCAAGACCAGCCTGACCAATATGGTGAAACCCCCTCTCTGCTAAAAATACAAAAATTAGCCAGGCGTGGTGGCGAGCGCCTGTAGTCCCAGCTACTTGCTTGAACTTGGGAGGCAGAGGTTGCAGTGAGCTGAGATCGTGCCACTGAACTCGAGCATGGGCAACAGAGCAAGACTGTCTCAAAAAAAAAAAAAAAAAGGGGGTGAGCAGACGTGGTGGCACGCTCCCACAGTCCCAGCTACTTAGTAGGAGGCCAAGGTTGGAGGATTGCTTGATCCCAGGAGTCTGAGTCCAGCCTGGGCAACATGGCAATACCTCATCTCTAAAAATAAAATAAAAGTAAAGGTATTAATTACTACTTTGGATGGTTGTTGCAAAGAAATATATATAAAATAATGGAGAGTCTTGTAACTGGCTCCCAAGAGGCTCAACAGACATTACTGTTTTTGCTTCTTCATTATGAGTTACCTCTCTGGCCACCCCACTGAACTAGCTGGGCTAGCTGAGCCTGGGAGAAGAGTTGTTTAGGAAGTGAGAGGCTGCTCTCCACAGAGACTCAAGGCTCAGTTCCTCCTGGTGACTCAGATGGGCAGCCCAGTGGGCACACGTGGTCTCTCTCCACATGTGGCTGAGTTTCACTTCCAGAATAGATGGAGAGGCAAGGGCAGGGTTTAGCATGCTTGAGGAATCTCAGAGGGCCCTGGTGGTGTGGGGGACCCTCAGAACACAGGTGTCTCAAGGGCTGACCCAGCTTCTGTGTCCTTTTCTCTGGGTGAGGAGGGGACATTCATGGGCAGATGGTGACCTCTGGGGAAGGCAGCCCAGACTCCACTGGCCACCATATTTCCTTTTTCACAACTTTCTCACCCCTGTGGTTTCCCATGTCATCATGTGGCCGCTTCCCGCAAGGCCTTAGCGGGGTGCAGGTATGAACATAGTGTCAGGCAAGGAGGCATCTGGAGGGGAACCCTGGCTTTTCCTGGGGGGACTCCCTCCCTGCACCCTAGCCCTGTCCTCTCCCATGGCTACTGATGCCTTCCCCTCACCCCAGAGGTGGCCCACATCTGCACAGATCAGACCCACAAAAATCACGTCTTCCTGACTCTCATAAGCCTGCCCAGTGAGGCCCAGGCATTAGGCCATGTGCTGGGGACTCAGACCCACACATATACGCATGTCAGCATTCATGCTTACAGGTCCGCACATGCTGGGGCAAGTGTCACACACGGGGCGCTGTAGGAAGCTGACTCTCAGCCCCTGCAGATTTCTGCCTGCCTGGACAGGGAGGTGTTGAGAAGGCTCAGGCAGTCCTGGGCCAGGACCTTGGCCTGGGGCTAGGGTACTGAGTGACCCTAGAATCAAGGGTGGCGTGGGCTTAAGCAGTTGCCAGACGTTCCTTGGTACTTTGCAGGCAGACCATGTGGACCCTGGTGAGCTGGGTGGCCTTAACAGCAGGGCTGGTGGCTGGAACGCGGTGCCCAGATGGTCAGTTCTGCCCTGTGGCCTGCTGCCTGGACCCCGGAGGAGCCAGCTACAGCTGCTGCCGTCCCCTTCTGGTGAGTGCCCCTCAGCCTAGGCAAGAGCTGGCAGCCTGGGTTTTCCCAAAGGGTCATCTTGGATTGGCCAGAGGAGGACGCCAGGCACAAGTCTGTGGTTTATCATTTTCCCTGTCTTTCTAGGACAAATGGCCCACAACACTGAGCAGGCATCTGGGTGGCCCCTGCCAGGTTGATGCCCACTGCTCTGCCGGCCACTCCTGCATCTTTACCGTCTCAGGGACTTCCAGTTGCTGCCCCTTCCCAGAGGTGAGCGTGCCATCAGCCCAGTGGAGGGGCTTAGGTCTGCATTTATGCTTTTCCTGCACTCTACCACCTGCAGATAAAAGGGCCCTGCCAATGCAGGTTTCTCTGTGTTCCACAGGCCGTGGCATGCGGGGATGGCCATCACTGCTGCCCACGGGGCTTCCACTGCAGTGCAGACGGGCGATCCTGCTTCCAAAGATCAGGTGCAGCTGGGGTGTGGGTGCAGGGCAGGCAGACGGGCAGCATGTGGAGTCTGGAACCCAGGAGCCCAGCTGGCGGGGGCAGCCCTGATTCCTGCCCTTGTGCCCTCATTCATGTGGCATCTGTACTAAGCAACAGCCCTGCTGTGGACAGAGGGGCAGCACTGGGGATAGGAGGGTGCGGGAGAAAGTGCAAGACTCCAGGTCCAGGCGTTGTGGGGGTGGGGAGAGGTCGAGCTGGGCCGGTCTAATACCAACCCATGGTCAGTGGGTGCCCCTTCCCCATGCCATCTTGCTGAGGGAGGGACTGGATTGTGAGGAGGGTGAGTTAGGCCTGCCTAGGAGATCACTGAGCCTTAGTGTCACCCTCAAACCCCAGTAGCTGGGCTTGCAGGCCCTGGTGCCACCAGCTCCTTGTGTGATGGGGGAGTCACCTTCCCTGAGTGGGCTGGTAGTATCCTGGGTCATCTTGTCCACAGGTAACAACTCCGTGGGTGCCATCCAGTGCCCTGATAGTCAGTTCGAATGCCCGGACTTCTCCACGTGCTGTGTTATGGTCGATGGCTCCTGGGGGTGCTGCCCCATGCCCCAGGTACAAATCTGGGGGAGATGGGGGTATGTGGAGGGAAGTGGGGGCAGAGTTGGGGGCCAGGGGCAGGGGGTGAAGACGGAGTCAGGACCATTTTTTCTCAGGCTTCCTGCTGTGAAGACAGGGTGCACTGCTGTCCGCACGGTGCCTTCTGCGACCTGGTTCACACCCGCTGCATCACACCCACGGGCACCCACCCCCTGGCAAAGAAGCTCCCTGCCCAGAGGACTAACAGGGCAGGTGAGGAGGTGGGAGAGCATCAGGCCAGGGGCTGGGGCGGGGCCTCATTGACTCCAAGTGTAGGAAAAAGTTTCCTCCATCCTGGCTGCCCCTCACGTTTGCTCCTCTTCCAGTGGCCTTGTCCAGCTCGGTCATGTGTCCGGACGCACGGTCCCGGTGCCCTGATGGTTCTACCTGCTGTGAGCTGCCCAGTGGGAAGTATGGCTGCTGCCCAATGCCCAACGTGAGTGAGGGGCTGGAGCCAGCTTGGCTGTGTGCCCCCAGCCACCTGGCCCTGACACGCACCTTACAGGGGCTCTGTGGCATGGGGCTGGCTGGCTGCTTGCTGGGAGCCTGGCTGATGCAGGGTTCATGCTACCCCCTAGTGGGGGATTGGGGCAGTGCCAGCCATCAGCCTGGCTGCTCCCTGTGTGCTACTGAGCCTGGAAGTGACAAAGACCCACCCCTGTCCCCACTCAGGCCACCTGCTGCTCCGATCACCTGCACTGCTGCCCCCAAGACACTGTGTGTGACCTGATCCAGAGTAAGTGCCTCTCCAAGGAGAACGCTACCACGGACCTCCTCACTAAGCTGCCTGCGCACACAGGTACCAGAGGCAGGGTGCAGATACAGGGGTGGGGCCCCCTTTCCTCCCTTTTAGGCCTGGCCTTAGGATCACTG
AAATGCCATGTAAATAGTTGTGATCCTGAATTGTTTAGGGAATAATAAGAAAGAACTATCTGTAGATGTTCAGTATAGATGCACCCATCGTAAGCCTAACTACATTGTATAACTCAGCAACGATGTAACATTTTCAGGGGTTTTTTTGTTTTGTTTTTTGAGACAGAATCTCAGTCTCACTCTGTCACCCAGGCTGGAGTATGTTGGCGTGATCTCTGCTCACTGCAACCTCCACCTCCTGGGCTCAAGCGATTCTCCTGCCTCAGCCTCTTGAGTAGCTGGGATTGCAGGTGTGCGCTACCACGCATGGCTAATTTTTGTATTTTTAATAGAGATGGGGTTTTACCACGTTGGTCAGGCTGGTCTTGAACTCCTGACCTTGGGATCCGCCCACCTGGGCCTCCCAAAGTGCTGGGATTACAGGCGTTAGCCACCGCGCCCAATATATTTTGATCCCTGGTTGGATATGGAGGGCTGACTGTACTTAACATCTCTAAGCTTCAGTTTCCTCCTTTAAAATAAAGGTGTGGCTGGGTGTGGTGGTTCAAGCCTGTAATCCCAGCACTTAGGGAGGCTGAGGTGGGTGGATCAGCTGAGGTCAGGAGTTCAAGACCAGCCTGACCAATATGGTGAAACCCCCTCTCTGCTAAAAATACAAAAATTAGCCAGGCGTGGTGGCGAGCGCCTGTAGTCCCAGCTACTTGCTTGAACTTGGGAGGCAGAGGTTGCAGTGAGCTGAGATCGTGCCACTGAACTCGAGCATGGGCAACAGAGCAAGACTGTCTCAAAAAAAAAAAAAAAAAGGGGGTGAGCAGACGTGGTGGCACGCTCCCACAGTCCCAGCTACTTAGTAGGAGGCCAAGGTTGGAGGATTGCTTGATCCCAGGAGTCTGAGTCCAGCCTGGGCAACATGGCAATACCTCATCTCTAAAAATAAAATAAAAGTAAAGGTATTAATTACTACTTTGGATGGTTGTTGCAAAGAAATATATATAAAATAATGGAGAGTCTTGTAACTGGCTCCCAAGAGGCTCAACAGACATTACTGTTTTTGCTTCTTCATTATGAGTTACCTCTCTGGCCACCCCACTGAACTAGCTGGGCTAGCTGAGCCTGGGAGAAGAGTTGTTTAGGAAGTGAGAGGCTGCTCTCCACAGAGACTCAAGGCTCAGTTCCTCCTGGTGACTCAGATGGGCAGCCCAGTGGGCACACGTGGTCTCTCTCCACATGTGGCTGAGTTTCACTTCCAGAATAGATGGAGAGGCAAGGGCAGGGTTTAGCATGCTTGAGGAATCTCAGAGGGCCCTGGTGGTGTGGGGGACCCTCAGAACACAGGTGTCTCAAGGGCTGACCCAGCTTCTGTGTCCTTTTCTCTGGGTGAGGAGGGGACATTCATGGGCAGATGGTGACCTCTGGGGAAGGCAGCCCAGACTCCACTGGCCACCATATTTCCTTTTTCACAACTTTCTCACCCCTGTGGTTTCCCATGTCATCATGTGGCCGCTTCCCGCAAGGCCTTAGCGGGGTGCAGGTATGAACATAGTGTCAGGCAAGGAGGCATCTGGAGGGGAACCCTGGCTTTTCCTGGGGGGACTCCCTCCCTGCACCCTAGCCCTGTCCTCTCCCATGGCTACTGATGCCTTCCCCTCACCCCAGAGGTGGCCCACATCTGCACAGATCAGACCCACAAAAATCACGTCTTCCTGACTCTCATAAGCCTGCCCAGTGAGGCCCAGGCATTAGGCCATGTGCTGGGGACTCAGACCCACACATATACGCATGTCAGCATTCATGCTTACAGGTCCGCACATGCTGGGGCAAGTGTCACACACGGGGCGCTGTAGGAAGCTGACTCTCAGCCCCTGCAGATTTCTGCCTGCCTGGACAGGGAGGTGTTGAGAAGGCTCAGGCAGTCCTGGGCCAGGACCTTGGCCTGGGGCTAGGGTACTGAGTGACCCTAGAATCAAGGGTGGCGTGGGCTTAAGCAGTTGCCAGACGTTCCTTGGTACTTTGCAGGCAGACCATGTGGACCCTGGTGAGCTGGGTGGACTTAACAGCAGGGCTGGTGGCTGGAACGCGGTGCCCAGATGGTCAGTTCTGCCCTGTGGCCTGCTGCCTGGACCCCGGAGGAGCCAGCTACAGCTGCTGCCGTCCCCTTCTGGTGAGTGCCCCTCAGCCTAGGCAAGAGCTGGCAGCCTGGGTTTTCCCAAAGGGTCATCTTGGATTGGCCAGAGGAGGACGCCAGGCACAAGTCTGTGGTTTATCATTTTCCCTGTCTTTCTAGGACAAATGGCCCACAACACTGAGCAGGCATCTGGGTGGCCCCTGCCAGGTTGATGCCCACTGCTCTGCCGGCCACTCCTGCATCTTTACCGTCTCAGGGACTTCCAGTTGCTGCCCCTTCCCAGAGGTGAGCGTGCCATCAGCCCAGTGGAGGGGCTTAGGTCTGCATTTATGCTTTTCCTGCACTCTACCACCTGCAGATAAAAGGGCCCTGCCAATGCAGGTTTCTCTGTGTTCCACAGGCCGTGGCATGCGGGGATGGCCATCACTGCTGCCCACGGGGCTTCCACTGCAGTGCAGACGGGCGATCCTGCTTCCAAAGATCAGGTGCAGCTGGGGTGTGGGTGCAGGGCAGGCAGACGGGCAGCATGTGGAGTCTGGAACCCAGGAGCCCAGCTGGCGGGGGCAGCCCTGATTCCTGCCCTTGTGCCCTCATTCATGTGGCATCTGTACTAAGCAACAGCCCTGCTGTGGACAGAGGGGCAGCACTGGGGATAGGAGGGTGCGGGAGAAAGTGCAAGACTCCAGGTCCAGGCGTTGTGGGGGTGGGGAGAGGTCGAGCTGGGCCGGTCTAATACCAACCCATGGTCAGTGGGTGCCCCTTCCCCATGCCATCTTGCTGAGGGAGGGACTGGATTGTGAGGAGGGTGAGTTAGGCCTGCCTAGGAGATCACTGAGCCTTAGTGTCACCCTCAAACCCCAGTAGCTGGGCTTGCAGGCCCTGGTGCCACCAGCTCCTTGTGTGATGGGGGAGTCACCTTCCCTGAGTGGGCTGGTAGTATCCTGGGTCATCTTGTCCACAGGTAACAACTCCGTGGGTGCCATCCAGTGCCCTGATAGTCAGTTCGAATGCCCGGACTTCTCCACGTGCTGTGTTATGGTCGATGGCTCCTGGGGGTGCTGCCCCATGCCCCAGGTACAAATCTGGGGGAGATGGGGGTATGTGGAGGGAAGTGGGGGCAGAGTTGGGGGCCAGGGGCAGGGGGTGAAGACGGAGTCAGGACCATTTTTTCTCAGGCTTCCTGCTGTGAAGACAGGGTGCACTGCTGTCCGCACGGTGCCTTCTGCGACCTGGTTCACACCCGCTGCATCACACCCACGGGCACCCACCCCCTGGCAAAGAAGCTCCCTGCCCAGAGGACTAACAGGGCAGGTGAGGAGGTGGGAGAGCATCAGGCCAGGGGCTGGGGCGGGGCCTCATTGACTCCAAGTGTAGGAAAAAGTTTCCTCCATCCTGGCTGCCCCTCACGTTTGCTCCTCTTCCAGTGGCCTTGTCCAGCTCGGTCATGTGTCCGGACGCACGGTCCCGGTGCCCTGATGGTTCTACCTGCTGTGAGCTGCCCAGTGGGAAGTATGGCTGCTGCCCAATGCCCAACGTGAGTGAGGGGCTGGAGCCAGCTTGGCTGTGTGCCCCCAGCCACCTGGCCCTGACACGCACCTTACAGGGGCTCTGTGGCATGGGGCTGGCTGGCTGCTTGCTGGGAGCCTGGCTGATGCAGGGTTCATGCTACCCCCTAGTGGGGGATTGGGGCAGTGCCAGCCATCAGCCTGGCTGCTCCCTGTGTGCTACTGAGCCTGGAAGTGACAAAGACCCACCCCTGTCCCCACTCAGGCCACCTGCTGCTCCGATCACCTGCACTGCTGCCCCCAAGACACTGTGTGTGACCTGATCCAGAGTAAGTGCCTCTCCAAGGAGAACGCTACCACGGACCTCCTCACTAAGCTGCCTGCGCACACAGGTACCAGAGGCAGGGTGCAGATACAGGGGTGGGGCCCCCTTTCCTCCCTTTTAGGCCTGGCCTTAGGATCACTG
Task1_train_24718
Here’s a variant in GRN (granulin precursor) located on Chromosome 17. What is the predicted biological effect — harmless or disease-causing?
Pathogenic; Neuronal ceroid lipofuscinosis 11
AAATGCCATGTAAATAGTTGTGATCCTGAATTGTTTAGGGAATAATAAGAAAGAACTATCTGTAGATGTTCAGTATAGATGCACCCATCGTAAGCCTAACTACATTGTATAACTCAGCAACGATGTAACATTTTCAGGGGTTTTTTTGTTTTGTTTTTTGAGACAGAATCTCAGTCTCACTCTGTCACCCAGGCTGGAGTATGTTGGCGTGATCTCTGCTCACTGCAACCTCCACCTCCTGGGCTCAAGCGATTCTCCTGCCTCAGCCTCTTGAGTAGCTGGGATTGCAGGTGTGCGCTACCACGCATGGCTAATTTTTGTATTTTTAATAGAGATGGGGTTTTACCACGTTGGTCAGGCTGGTCTTGAACTCCTGACCTTGGGATCCGCCCACCTGGGCCTCCCAAAGTGCTGGGATTACAGGCGTTAGCCACCGCGCCCAATATATTTTGATCCCTGGTTGGATATGGAGGGCTGACTGTACTTAACATCTCTAAGCTTCAGTTTCCTCCTTTAAAATAAAGGTGTGGCTGGGTGTGGTGGTTCAAGCCTGTAATCCCAGCACTTAGGGAGGCTGAGGTGGGTGGATCAGCTGAGGTCAGGAGTTCAAGACCAGCCTGACCAATATGGTGAAACCCCCTCTCTGCTAAAAATACAAAAATTAGCCAGGCGTGGTGGCGAGCGCCTGTAGTCCCAGCTACTTGCTTGAACTTGGGAGGCAGAGGTTGCAGTGAGCTGAGATCGTGCCACTGAACTCGAGCATGGGCAACAGAGCAAGACTGTCTCAAAAAAAAAAAAAAAAAGGGGGTGAGCAGACGTGGTGGCACGCTCCCACAGTCCCAGCTACTTAGTAGGAGGCCAAGGTTGGAGGATTGCTTGATCCCAGGAGTCTGAGTCCAGCCTGGGCAACATGGCAATACCTCATCTCTAAAAATAAAATAAAAGTAAAGGTATTAATTACTACTTTGGATGGTTGTTGCAAAGAAATATATATAAAATAATGGAGAGTCTTGTAACTGGCTCCCAAGAGGCTCAACAGACATTACTGTTTTTGCTTCTTCATTATGAGTTACCTCTCTGGCCACCCCACTGAACTAGCTGGGCTAGCTGAGCCTGGGAGAAGAGTTGTTTAGGAAGTGAGAGGCTGCTCTCCACAGAGACTCAAGGCTCAGTTCCTCCTGGTGACTCAGATGGGCAGCCCAGTGGGCACACGTGGTCTCTCTCCACATGTGGCTGAGTTTCACTTCCAGAATAGATGGAGAGGCAAGGGCAGGGTTTAGCATGCTTGAGGAATCTCAGAGGGCCCTGGTGGTGTGGGGGACCCTCAGAACACAGGTGTCTCAAGGGCTGACCCAGCTTCTGTGTCCTTTTCTCTGGGTGAGGAGGGGACATTCATGGGCAGATGGTGACCTCTGGGGAAGGCAGCCCAGACTCCACTGGCCACCATATTTCCTTTTTCACAACTTTCTCACCCCTGTGGTTTCCCATGTCATCATGTGGCCGCTTCCCGCAAGGCCTTAGCGGGGTGCAGGTATGAACATAGTGTCAGGCAAGGAGGCATCTGGAGGGGAACCCTGGCTTTTCCTGGGGGGACTCCCTCCCTGCACCCTAGCCCTGTCCTCTCCCATGGCTACTGATGCCTTCCCCTCACCCCAGAGGTGGCCCACATCTGCACAGATCAGACCCACAAAAATCACGTCTTCCTGACTCTCATAAGCCTGCCCAGTGAGGCCCAGGCATTAGGCCATGTGCTGGGGACTCAGACCCACACATATACGCATGTCAGCATTCATGCTTACAGGTCCGCACATGCTGGGGCAAGTGTCACACACGGGGCGCTGTAGGAAGCTGACTCTCAGCCCCTGCAGATTTCTGCCTGCCTGGACAGGGAGGTGTTGAGAAGGCTCAGGCAGTCCTGGGCCAGGACCTTGGCCTGGGGCTAGGGTACTGAGTGACCCTAGAATCAAGGGTGGCGTGGGCTTAAGCAGTTGCCAGACGTTCCTTGGTACTTTGCAGGCAGACCATGTGGACCCTGGTGAGCTGGGTGGCCTTAACAGCAGGGCTGGTGGCTGGAACGCGGTGCCCAGATGGTCAGTTCTGCCCTGTGGCCTGCTGCCTGGACCCCGGAGGAGCCAGCTACAGCTGCTGCCGTCCCCTTCTGGTGAGTGCCCCTCAGCCTAGGCAAGAGCTGGCAGCCTGGGTTTTCCCAAAGGGTCATCTTGGATTGGCCAGAGGAGGACGCCAGGCACAAGTCTGTGGTTTATCATTTTCCCTGTCTTTCTAGGACAAATGGCCCACAACACTGAGCAGGCATCTGGGTGGCCCCTGCCAGGTTGATGCCCACTGCTCTGCCGGCCACTCCTGCATCTTTACCGTCTCAGGGACTTCCAGTTGCTGCCCCTTCCCAGAGGTGAGCGTGCCATCAGCCCAGTGGAGGGGCTTAGGTCTGCATTTATGCTTTTCCTGCACTCTACCACCTGCAGATAAAAGGGCCCTGCCAATGCAGGTTTCTCTGTGTTCCACAGGCCGTGGCATGCGGGGATGGCCATCACTGCTGCCCACGGGGCTTCCACTGCAGTGCAGACGGGCGATCCTGCTTCCAAAGATCAGGTGCAGCTGGGGTGTGGGTGCAGGGCAGGCAGACGGGCAGCATGTGGAGTCTGGAACCCAGGAGCCCAGCTGGCGGGGGCAGCCCTGATTCCTGCCCTTGTGCCCTCATTCATGTGGCATCTGTACTAAGCAACAGCCCTGCTGTGGACAGAGGGGCAGCACTGGGGATAGGAGGGTGCGGGAGAAAGTGCAAGACTCCAGGTCCAGGCGTTGTGGGGGTGGGGAGAGGTCGAGCTGGGCCGGTCTAATACCAACCCATGGTCAGTGGGTGCCCCTTCCCCATGCCATCTTGCTGAGGGAGGGACTGGATTGTGAGGAGGGTGAGTTAGGCCTGCCTAGGAGATCACTGAGCCTTAGTGTCACCCTCAAACCCCAGTAGCTGGGCTTGCAGGCCCTGGTGCCACCAGCTCCTTGTGTGATGGGGGAGTCACCTTCCCTGAGTGGGCTGGTAGTATCCTGGGTCATCTTGTCCACAGGTAACAACTCCGTGGGTGCCATCCAGTGCCCTGATAGTCAGTTCGAATGCCCGGACTTCTCCACGTGCTGTGTTATGGTCGATGGCTCCTGGGGGTGCTGCCCCATGCCCCAGGTACAAATCTGGGGGAGATGGGGGTATGTGGAGGGAAGTGGGGGCAGAGTTGGGGGCCAGGGGCAGGGGGTGAAGACGGAGTCAGGACCATTTTTTCTCAGGCTTCCTGCTGTGAAGACAGGGTGCACTGCTGTCCGCACGGTGCCTTCTGCGACCTGGTTCACACCCGCTGCATCACACCCACGGGCACCCACCCCCTGGCAAAGAAGCTCCCTGCCCAGAGGACTAACAGGGCAGGTGAGGAGGTGGGAGAGCATCAGGCCAGGGGCTGGGGCGGGGCCTCATTGACTCCAAGTGTAGGAAAAAGTTTCCTCCATCCTGGCTGCCCCTCACGTTTGCTCCTCTTCCAGTGGCCTTGTCCAGCTCGGTCATGTGTCCGGACGCACGGTCCCGGTGCCCTGATGGTTCTACCTGCTGTGAGCTGCCCAGTGGGAAGTATGGCTGCTGCCCAATGCCCAACGTGAGTGAGGGGCTGGAGCCAGCTTGGCTGTGTGCCCCCAGCCACCTGGCCCTGACACGCACCTTACAGGGGCTCTGTGGCATGGGGCTGGCTGGCTGCTTGCTGGGAGCCTGGCTGATGCAGGGTTCATGCTACCCCCTAGTGGGGGATTGGGGCAGTGCCAGCCATCAGCCTGGCTGCTCCCTGTGTGCTACTGAGCCTGGAAGTGACAAAGACCCACCCCTGTCCCCACTCAGGCCACCTGCTGCTCCGATCACCTGCACTGCTGCCCCCAAGACACTGTGTGTGACCTGATCCAGAGTAAGTGCCTCTCCAAGGAGAACGCTACCACGGACCTCCTCACTAAGCTGCCTGCGCACACAGGTACCAGAGGCAGGGTGCAGATACAGGGGTGGGGCCCCCTTTCCTCCCTTTTAGGCCTGGCCTTAGGATCACTG
AAATGCCATGTAAATAGTTGTGATCCTGAATTGTTTAGGGAATAATAAGAAAGAACTATCTGTAGATGTTCAGTATAGATGCACCCATCGTAAGCCTAACTACATTGTATAACTCAGCAACGATGTAACATTTTCAGGGGTTTTTTTGTTTTGTTTTTTGAGACAGAATCTCAGTCTCACTCTGTCACCCAGGCTGGAGTATGTTGGCGTGATCTCTGCTCACTGCAACCTCCACCTCCTGGGCTCAAGCGATTCTCCTGCCTCAGCCTCTTGAGTAGCTGGGATTGCAGGTGTGCGCTACCACGCATGGCTAATTTTTGTATTTTTAATAGAGATGGGGTTTTACCACGTTGGTCAGGCTGGTCTTGAACTCCTGACCTTGGGATCCGCCCACCTGGGCCTCCCAAAGTGCTGGGATTACAGGCGTTAGCCACCGCGCCCAATATATTTTGATCCCTGGTTGGATATGGAGGGCTGACTGTACTTAACATCTCTAAGCTTCAGTTTCCTCCTTTAAAATAAAGGTGTGGCTGGGTGTGGTGGTTCAAGCCTGTAATCCCAGCACTTAGGGAGGCTGAGGTGGGTGGATCAGCTGAGGTCAGGAGTTCAAGACCAGCCTGACCAATATGGTGAAACCCCCTCTCTGCTAAAAATACAAAAATTAGCCAGGCGTGGTGGCGAGCGCCTGTAGTCCCAGCTACTTGCTTGAACTTGGGAGGCAGAGGTTGCAGTGAGCTGAGATCGTGCCACTGAACTCGAGCATGGGCAACAGAGCAAGACTGTCTCAAAAAAAAAAAAAAAAAGGGGGTGAGCAGACGTGGTGGCACGCTCCCACAGTCCCAGCTACTTAGTAGGAGGCCAAGGTTGGAGGATTGCTTGATCCCAGGAGTCTGAGTCCAGCCTGGGCAACATGGCAATACCTCATCTCTAAAAATAAAATAAAAGTAAAGGTATTAATTACTACTTTGGATGGTTGTTGCAAAGAAATATATATAAAATAATGGAGAGTCTTGTAACTGGCTCCCAAGAGGCTCAACAGACATTACTGTTTTTGCTTCTTCATTATGAGTTACCTCTCTGGCCACCCCACTGAACTAGCTGGGCTAGCTGAGCCTGGGAGAAGAGTTGTTTAGGAAGTGAGAGGCTGCTCTCCACAGAGACTCAAGGCTCAGTTCCTCCTGGTGACTCAGATGGGCAGCCCAGTGGGCACACGTGGTCTCTCTCCACATGTGGCTGAGTTTCACTTCCAGAATAGATGGAGAGGCAAGGGCAGGGTTTAGCATGCTTGAGGAATCTCAGAGGGCCCTGGTGGTGTGGGGGACCCTCAGAACACAGGTGTCTCAAGGGCTGACCCAGCTTCTGTGTCCTTTTCTCTGGGTGAGGAGGGGACATTCATGGGCAGATGGTGACCTCTGGGGAAGGCAGCCCAGACTCCACTGGCCACCATATTTCCTTTTTCACAACTTTCTCACCCCTGTGGTTTCCCATGTCATCATGTGGCCGCTTCCCGCAAGGCCTTAGCGGGGTGCAGGTATGAACATAGTGTCAGGCAAGGAGGCATCTGGAGGGGAACCCTGGCTTTTCCTGGGGGGACTCCCTCCCTGCACCCTAGCCCTGTCCTCTCCCATGGCTACTGATGCCTTCCCCTCACCCCAGAGGTGGCCCACATCTGCACAGATCAGACCCACAAAAATCACGTCTTCCTGACTCTCATAAGCCTGCCCAGTGAGGCCCAGGCATTAGGCCATGTGCTGGGGACTCAGACCCACACATATACGCATGTCAGCATTCATGCTTACAGGTCCGCACATGCTGGGGCAAGTGTCACACACGGGGCGCTGTAGGAAGCTGACTCTCAGCCCCTGCAGATTTCTGCCTGCCTGGACAGGGAGGTGTTGAGAAGGCTCAGGCAGTCCTGGGCCAGGACCTTGGCCTGGGGCTAGGGTACTGAGTGACCCTAGAATCAAGGGTGGCGTGGGCTTAAGCAGTTGCCAGACGTTCCTTGGTACTTTGCAGGCAGACCATGTGGACCCTGGTGAGCTGGGTGGACTTAACAGCAGGGCTGGTGGCTGGAACGCGGTGCCCAGATGGTCAGTTCTGCCCTGTGGCCTGCTGCCTGGACCCCGGAGGAGCCAGCTACAGCTGCTGCCGTCCCCTTCTGGTGAGTGCCCCTCAGCCTAGGCAAGAGCTGGCAGCCTGGGTTTTCCCAAAGGGTCATCTTGGATTGGCCAGAGGAGGACGCCAGGCACAAGTCTGTGGTTTATCATTTTCCCTGTCTTTCTAGGACAAATGGCCCACAACACTGAGCAGGCATCTGGGTGGCCCCTGCCAGGTTGATGCCCACTGCTCTGCCGGCCACTCCTGCATCTTTACCGTCTCAGGGACTTCCAGTTGCTGCCCCTTCCCAGAGGTGAGCGTGCCATCAGCCCAGTGGAGGGGCTTAGGTCTGCATTTATGCTTTTCCTGCACTCTACCACCTGCAGATAAAAGGGCCCTGCCAATGCAGGTTTCTCTGTGTTCCACAGGCCGTGGCATGCGGGGATGGCCATCACTGCTGCCCACGGGGCTTCCACTGCAGTGCAGACGGGCGATCCTGCTTCCAAAGATCAGGTGCAGCTGGGGTGTGGGTGCAGGGCAGGCAGACGGGCAGCATGTGGAGTCTGGAACCCAGGAGCCCAGCTGGCGGGGGCAGCCCTGATTCCTGCCCTTGTGCCCTCATTCATGTGGCATCTGTACTAAGCAACAGCCCTGCTGTGGACAGAGGGGCAGCACTGGGGATAGGAGGGTGCGGGAGAAAGTGCAAGACTCCAGGTCCAGGCGTTGTGGGGGTGGGGAGAGGTCGAGCTGGGCCGGTCTAATACCAACCCATGGTCAGTGGGTGCCCCTTCCCCATGCCATCTTGCTGAGGGAGGGACTGGATTGTGAGGAGGGTGAGTTAGGCCTGCCTAGGAGATCACTGAGCCTTAGTGTCACCCTCAAACCCCAGTAGCTGGGCTTGCAGGCCCTGGTGCCACCAGCTCCTTGTGTGATGGGGGAGTCACCTTCCCTGAGTGGGCTGGTAGTATCCTGGGTCATCTTGTCCACAGGTAACAACTCCGTGGGTGCCATCCAGTGCCCTGATAGTCAGTTCGAATGCCCGGACTTCTCCACGTGCTGTGTTATGGTCGATGGCTCCTGGGGGTGCTGCCCCATGCCCCAGGTACAAATCTGGGGGAGATGGGGGTATGTGGAGGGAAGTGGGGGCAGAGTTGGGGGCCAGGGGCAGGGGGTGAAGACGGAGTCAGGACCATTTTTTCTCAGGCTTCCTGCTGTGAAGACAGGGTGCACTGCTGTCCGCACGGTGCCTTCTGCGACCTGGTTCACACCCGCTGCATCACACCCACGGGCACCCACCCCCTGGCAAAGAAGCTCCCTGCCCAGAGGACTAACAGGGCAGGTGAGGAGGTGGGAGAGCATCAGGCCAGGGGCTGGGGCGGGGCCTCATTGACTCCAAGTGTAGGAAAAAGTTTCCTCCATCCTGGCTGCCCCTCACGTTTGCTCCTCTTCCAGTGGCCTTGTCCAGCTCGGTCATGTGTCCGGACGCACGGTCCCGGTGCCCTGATGGTTCTACCTGCTGTGAGCTGCCCAGTGGGAAGTATGGCTGCTGCCCAATGCCCAACGTGAGTGAGGGGCTGGAGCCAGCTTGGCTGTGTGCCCCCAGCCACCTGGCCCTGACACGCACCTTACAGGGGCTCTGTGGCATGGGGCTGGCTGGCTGCTTGCTGGGAGCCTGGCTGATGCAGGGTTCATGCTACCCCCTAGTGGGGGATTGGGGCAGTGCCAGCCATCAGCCTGGCTGCTCCCTGTGTGCTACTGAGCCTGGAAGTGACAAAGACCCACCCCTGTCCCCACTCAGGCCACCTGCTGCTCCGATCACCTGCACTGCTGCCCCCAAGACACTGTGTGTGACCTGATCCAGAGTAAGTGCCTCTCCAAGGAGAACGCTACCACGGACCTCCTCACTAAGCTGCCTGCGCACACAGGTACCAGAGGCAGGGTGCAGATACAGGGGTGGGGCCCCCTTTCCTCCCTTTTAGGCCTGGCCTTAGGATCACTG
Task1_train_24719
A mutation found in GRN (granulin precursor) on Chromosome 17 may be clinically relevant. Is it pathogenic or benign, and if the former, which disease is implicated?
Pathogenic; GRN-related frontotemporal lobar degeneration with Tdp43 inclusions
AAATGCCATGTAAATAGTTGTGATCCTGAATTGTTTAGGGAATAATAAGAAAGAACTATCTGTAGATGTTCAGTATAGATGCACCCATCGTAAGCCTAACTACATTGTATAACTCAGCAACGATGTAACATTTTCAGGGGTTTTTTTGTTTTGTTTTTTGAGACAGAATCTCAGTCTCACTCTGTCACCCAGGCTGGAGTATGTTGGCGTGATCTCTGCTCACTGCAACCTCCACCTCCTGGGCTCAAGCGATTCTCCTGCCTCAGCCTCTTGAGTAGCTGGGATTGCAGGTGTGCGCTACCACGCATGGCTAATTTTTGTATTTTTAATAGAGATGGGGTTTTACCACGTTGGTCAGGCTGGTCTTGAACTCCTGACCTTGGGATCCGCCCACCTGGGCCTCCCAAAGTGCTGGGATTACAGGCGTTAGCCACCGCGCCCAATATATTTTGATCCCTGGTTGGATATGGAGGGCTGACTGTACTTAACATCTCTAAGCTTCAGTTTCCTCCTTTAAAATAAAGGTGTGGCTGGGTGTGGTGGTTCAAGCCTGTAATCCCAGCACTTAGGGAGGCTGAGGTGGGTGGATCAGCTGAGGTCAGGAGTTCAAGACCAGCCTGACCAATATGGTGAAACCCCCTCTCTGCTAAAAATACAAAAATTAGCCAGGCGTGGTGGCGAGCGCCTGTAGTCCCAGCTACTTGCTTGAACTTGGGAGGCAGAGGTTGCAGTGAGCTGAGATCGTGCCACTGAACTCGAGCATGGGCAACAGAGCAAGACTGTCTCAAAAAAAAAAAAAAAAAGGGGGTGAGCAGACGTGGTGGCACGCTCCCACAGTCCCAGCTACTTAGTAGGAGGCCAAGGTTGGAGGATTGCTTGATCCCAGGAGTCTGAGTCCAGCCTGGGCAACATGGCAATACCTCATCTCTAAAAATAAAATAAAAGTAAAGGTATTAATTACTACTTTGGATGGTTGTTGCAAAGAAATATATATAAAATAATGGAGAGTCTTGTAACTGGCTCCCAAGAGGCTCAACAGACATTACTGTTTTTGCTTCTTCATTATGAGTTACCTCTCTGGCCACCCCACTGAACTAGCTGGGCTAGCTGAGCCTGGGAGAAGAGTTGTTTAGGAAGTGAGAGGCTGCTCTCCACAGAGACTCAAGGCTCAGTTCCTCCTGGTGACTCAGATGGGCAGCCCAGTGGGCACACGTGGTCTCTCTCCACATGTGGCTGAGTTTCACTTCCAGAATAGATGGAGAGGCAAGGGCAGGGTTTAGCATGCTTGAGGAATCTCAGAGGGCCCTGGTGGTGTGGGGGACCCTCAGAACACAGGTGTCTCAAGGGCTGACCCAGCTTCTGTGTCCTTTTCTCTGGGTGAGGAGGGGACATTCATGGGCAGATGGTGACCTCTGGGGAAGGCAGCCCAGACTCCACTGGCCACCATATTTCCTTTTTCACAACTTTCTCACCCCTGTGGTTTCCCATGTCATCATGTGGCCGCTTCCCGCAAGGCCTTAGCGGGGTGCAGGTATGAACATAGTGTCAGGCAAGGAGGCATCTGGAGGGGAACCCTGGCTTTTCCTGGGGGGACTCCCTCCCTGCACCCTAGCCCTGTCCTCTCCCATGGCTACTGATGCCTTCCCCTCACCCCAGAGGTGGCCCACATCTGCACAGATCAGACCCACAAAAATCACGTCTTCCTGACTCTCATAAGCCTGCCCAGTGAGGCCCAGGCATTAGGCCATGTGCTGGGGACTCAGACCCACACATATACGCATGTCAGCATTCATGCTTACAGGTCCGCACATGCTGGGGCAAGTGTCACACACGGGGCGCTGTAGGAAGCTGACTCTCAGCCCCTGCAGATTTCTGCCTGCCTGGACAGGGAGGTGTTGAGAAGGCTCAGGCAGTCCTGGGCCAGGACCTTGGCCTGGGGCTAGGGTACTGAGTGACCCTAGAATCAAGGGTGGCGTGGGCTTAAGCAGTTGCCAGACGTTCCTTGGTACTTTGCAGGCAGACCATGTGGACCCTGGTGAGCTGGGTGGCCTTAACAGCAGGGCTGGTGGCTGGAACGCGGTGCCCAGATGGTCAGTTCTGCCCTGTGGCCTGCTGCCTGGACCCCGGAGGAGCCAGCTACAGCTGCTGCCGTCCCCTTCTGGTGAGTGCCCCTCAGCCTAGGCAAGAGCTGGCAGCCTGGGTTTTCCCAAAGGGTCATCTTGGATTGGCCAGAGGAGGACGCCAGGCACAAGTCTGTGGTTTATCATTTTCCCTGTCTTTCTAGGACAAATGGCCCACAACACTGAGCAGGCATCTGGGTGGCCCCTGCCAGGTTGATGCCCACTGCTCTGCCGGCCACTCCTGCATCTTTACCGTCTCAGGGACTTCCAGTTGCTGCCCCTTCCCAGAGGTGAGCGTGCCATCAGCCCAGTGGAGGGGCTTAGGTCTGCATTTATGCTTTTCCTGCACTCTACCACCTGCAGATAAAAGGGCCCTGCCAATGCAGGTTTCTCTGTGTTCCACAGGCCGTGGCATGCGGGGATGGCCATCACTGCTGCCCACGGGGCTTCCACTGCAGTGCAGACGGGCGATCCTGCTTCCAAAGATCAGGTGCAGCTGGGGTGTGGGTGCAGGGCAGGCAGACGGGCAGCATGTGGAGTCTGGAACCCAGGAGCCCAGCTGGCGGGGGCAGCCCTGATTCCTGCCCTTGTGCCCTCATTCATGTGGCATCTGTACTAAGCAACAGCCCTGCTGTGGACAGAGGGGCAGCACTGGGGATAGGAGGGTGCGGGAGAAAGTGCAAGACTCCAGGTCCAGGCGTTGTGGGGGTGGGGAGAGGTCGAGCTGGGCCGGTCTAATACCAACCCATGGTCAGTGGGTGCCCCTTCCCCATGCCATCTTGCTGAGGGAGGGACTGGATTGTGAGGAGGGTGAGTTAGGCCTGCCTAGGAGATCACTGAGCCTTAGTGTCACCCTCAAACCCCAGTAGCTGGGCTTGCAGGCCCTGGTGCCACCAGCTCCTTGTGTGATGGGGGAGTCACCTTCCCTGAGTGGGCTGGTAGTATCCTGGGTCATCTTGTCCACAGGTAACAACTCCGTGGGTGCCATCCAGTGCCCTGATAGTCAGTTCGAATGCCCGGACTTCTCCACGTGCTGTGTTATGGTCGATGGCTCCTGGGGGTGCTGCCCCATGCCCCAGGTACAAATCTGGGGGAGATGGGGGTATGTGGAGGGAAGTGGGGGCAGAGTTGGGGGCCAGGGGCAGGGGGTGAAGACGGAGTCAGGACCATTTTTTCTCAGGCTTCCTGCTGTGAAGACAGGGTGCACTGCTGTCCGCACGGTGCCTTCTGCGACCTGGTTCACACCCGCTGCATCACACCCACGGGCACCCACCCCCTGGCAAAGAAGCTCCCTGCCCAGAGGACTAACAGGGCAGGTGAGGAGGTGGGAGAGCATCAGGCCAGGGGCTGGGGCGGGGCCTCATTGACTCCAAGTGTAGGAAAAAGTTTCCTCCATCCTGGCTGCCCCTCACGTTTGCTCCTCTTCCAGTGGCCTTGTCCAGCTCGGTCATGTGTCCGGACGCACGGTCCCGGTGCCCTGATGGTTCTACCTGCTGTGAGCTGCCCAGTGGGAAGTATGGCTGCTGCCCAATGCCCAACGTGAGTGAGGGGCTGGAGCCAGCTTGGCTGTGTGCCCCCAGCCACCTGGCCCTGACACGCACCTTACAGGGGCTCTGTGGCATGGGGCTGGCTGGCTGCTTGCTGGGAGCCTGGCTGATGCAGGGTTCATGCTACCCCCTAGTGGGGGATTGGGGCAGTGCCAGCCATCAGCCTGGCTGCTCCCTGTGTGCTACTGAGCCTGGAAGTGACAAAGACCCACCCCTGTCCCCACTCAGGCCACCTGCTGCTCCGATCACCTGCACTGCTGCCCCCAAGACACTGTGTGTGACCTGATCCAGAGTAAGTGCCTCTCCAAGGAGAACGCTACCACGGACCTCCTCACTAAGCTGCCTGCGCACACAGGTACCAGAGGCAGGGTGCAGATACAGGGGTGGGGCCCCCTTTCCTCCCTTTTAGGCCTGGCCTTAGGATCACTG
AAATGCCATGTAAATAGTTGTGATCCTGAATTGTTTAGGGAATAATAAGAAAGAACTATCTGTAGATGTTCAGTATAGATGCACCCATCGTAAGCCTAACTACATTGTATAACTCAGCAACGATGTAACATTTTCAGGGGTTTTTTTGTTTTGTTTTTTGAGACAGAATCTCAGTCTCACTCTGTCACCCAGGCTGGAGTATGTTGGCGTGATCTCTGCTCACTGCAACCTCCACCTCCTGGGCTCAAGCGATTCTCCTGCCTCAGCCTCTTGAGTAGCTGGGATTGCAGGTGTGCGCTACCACGCATGGCTAATTTTTGTATTTTTAATAGAGATGGGGTTTTACCACGTTGGTCAGGCTGGTCTTGAACTCCTGACCTTGGGATCCGCCCACCTGGGCCTCCCAAAGTGCTGGGATTACAGGCGTTAGCCACCGCGCCCAATATATTTTGATCCCTGGTTGGATATGGAGGGCTGACTGTACTTAACATCTCTAAGCTTCAGTTTCCTCCTTTAAAATAAAGGTGTGGCTGGGTGTGGTGGTTCAAGCCTGTAATCCCAGCACTTAGGGAGGCTGAGGTGGGTGGATCAGCTGAGGTCAGGAGTTCAAGACCAGCCTGACCAATATGGTGAAACCCCCTCTCTGCTAAAAATACAAAAATTAGCCAGGCGTGGTGGCGAGCGCCTGTAGTCCCAGCTACTTGCTTGAACTTGGGAGGCAGAGGTTGCAGTGAGCTGAGATCGTGCCACTGAACTCGAGCATGGGCAACAGAGCAAGACTGTCTCAAAAAAAAAAAAAAAAAGGGGGTGAGCAGACGTGGTGGCACGCTCCCACAGTCCCAGCTACTTAGTAGGAGGCCAAGGTTGGAGGATTGCTTGATCCCAGGAGTCTGAGTCCAGCCTGGGCAACATGGCAATACCTCATCTCTAAAAATAAAATAAAAGTAAAGGTATTAATTACTACTTTGGATGGTTGTTGCAAAGAAATATATATAAAATAATGGAGAGTCTTGTAACTGGCTCCCAAGAGGCTCAACAGACATTACTGTTTTTGCTTCTTCATTATGAGTTACCTCTCTGGCCACCCCACTGAACTAGCTGGGCTAGCTGAGCCTGGGAGAAGAGTTGTTTAGGAAGTGAGAGGCTGCTCTCCACAGAGACTCAAGGCTCAGTTCCTCCTGGTGACTCAGATGGGCAGCCCAGTGGGCACACGTGGTCTCTCTCCACATGTGGCTGAGTTTCACTTCCAGAATAGATGGAGAGGCAAGGGCAGGGTTTAGCATGCTTGAGGAATCTCAGAGGGCCCTGGTGGTGTGGGGGACCCTCAGAACACAGGTGTCTCAAGGGCTGACCCAGCTTCTGTGTCCTTTTCTCTGGGTGAGGAGGGGACATTCATGGGCAGATGGTGACCTCTGGGGAAGGCAGCCCAGACTCCACTGGCCACCATATTTCCTTTTTCACAACTTTCTCACCCCTGTGGTTTCCCATGTCATCATGTGGCCGCTTCCCGCAAGGCCTTAGCGGGGTGCAGGTATGAACATAGTGTCAGGCAAGGAGGCATCTGGAGGGGAACCCTGGCTTTTCCTGGGGGGACTCCCTCCCTGCACCCTAGCCCTGTCCTCTCCCATGGCTACTGATGCCTTCCCCTCACCCCAGAGGTGGCCCACATCTGCACAGATCAGACCCACAAAAATCACGTCTTCCTGACTCTCATAAGCCTGCCCAGTGAGGCCCAGGCATTAGGCCATGTGCTGGGGACTCAGACCCACACATATACGCATGTCAGCATTCATGCTTACAGGTCCGCACATGCTGGGGCAAGTGTCACACACGGGGCGCTGTAGGAAGCTGACTCTCAGCCCCTGCAGATTTCTGCCTGCCTGGACAGGGAGGTGTTGAGAAGGCTCAGGCAGTCCTGGGCCAGGACCTTGGCCTGGGGCTAGGGTACTGAGTGACCCTAGAATCAAGGGTGGCGTGGGCTTAAGCAGTTGCCAGACGTTCCTTGGTACTTTGCAGGCAGACCATGTGGACCCTGGTGAGCTGGGTGGACTTAACAGCAGGGCTGGTGGCTGGAACGCGGTGCCCAGATGGTCAGTTCTGCCCTGTGGCCTGCTGCCTGGACCCCGGAGGAGCCAGCTACAGCTGCTGCCGTCCCCTTCTGGTGAGTGCCCCTCAGCCTAGGCAAGAGCTGGCAGCCTGGGTTTTCCCAAAGGGTCATCTTGGATTGGCCAGAGGAGGACGCCAGGCACAAGTCTGTGGTTTATCATTTTCCCTGTCTTTCTAGGACAAATGGCCCACAACACTGAGCAGGCATCTGGGTGGCCCCTGCCAGGTTGATGCCCACTGCTCTGCCGGCCACTCCTGCATCTTTACCGTCTCAGGGACTTCCAGTTGCTGCCCCTTCCCAGAGGTGAGCGTGCCATCAGCCCAGTGGAGGGGCTTAGGTCTGCATTTATGCTTTTCCTGCACTCTACCACCTGCAGATAAAAGGGCCCTGCCAATGCAGGTTTCTCTGTGTTCCACAGGCCGTGGCATGCGGGGATGGCCATCACTGCTGCCCACGGGGCTTCCACTGCAGTGCAGACGGGCGATCCTGCTTCCAAAGATCAGGTGCAGCTGGGGTGTGGGTGCAGGGCAGGCAGACGGGCAGCATGTGGAGTCTGGAACCCAGGAGCCCAGCTGGCGGGGGCAGCCCTGATTCCTGCCCTTGTGCCCTCATTCATGTGGCATCTGTACTAAGCAACAGCCCTGCTGTGGACAGAGGGGCAGCACTGGGGATAGGAGGGTGCGGGAGAAAGTGCAAGACTCCAGGTCCAGGCGTTGTGGGGGTGGGGAGAGGTCGAGCTGGGCCGGTCTAATACCAACCCATGGTCAGTGGGTGCCCCTTCCCCATGCCATCTTGCTGAGGGAGGGACTGGATTGTGAGGAGGGTGAGTTAGGCCTGCCTAGGAGATCACTGAGCCTTAGTGTCACCCTCAAACCCCAGTAGCTGGGCTTGCAGGCCCTGGTGCCACCAGCTCCTTGTGTGATGGGGGAGTCACCTTCCCTGAGTGGGCTGGTAGTATCCTGGGTCATCTTGTCCACAGGTAACAACTCCGTGGGTGCCATCCAGTGCCCTGATAGTCAGTTCGAATGCCCGGACTTCTCCACGTGCTGTGTTATGGTCGATGGCTCCTGGGGGTGCTGCCCCATGCCCCAGGTACAAATCTGGGGGAGATGGGGGTATGTGGAGGGAAGTGGGGGCAGAGTTGGGGGCCAGGGGCAGGGGGTGAAGACGGAGTCAGGACCATTTTTTCTCAGGCTTCCTGCTGTGAAGACAGGGTGCACTGCTGTCCGCACGGTGCCTTCTGCGACCTGGTTCACACCCGCTGCATCACACCCACGGGCACCCACCCCCTGGCAAAGAAGCTCCCTGCCCAGAGGACTAACAGGGCAGGTGAGGAGGTGGGAGAGCATCAGGCCAGGGGCTGGGGCGGGGCCTCATTGACTCCAAGTGTAGGAAAAAGTTTCCTCCATCCTGGCTGCCCCTCACGTTTGCTCCTCTTCCAGTGGCCTTGTCCAGCTCGGTCATGTGTCCGGACGCACGGTCCCGGTGCCCTGATGGTTCTACCTGCTGTGAGCTGCCCAGTGGGAAGTATGGCTGCTGCCCAATGCCCAACGTGAGTGAGGGGCTGGAGCCAGCTTGGCTGTGTGCCCCCAGCCACCTGGCCCTGACACGCACCTTACAGGGGCTCTGTGGCATGGGGCTGGCTGGCTGCTTGCTGGGAGCCTGGCTGATGCAGGGTTCATGCTACCCCCTAGTGGGGGATTGGGGCAGTGCCAGCCATCAGCCTGGCTGCTCCCTGTGTGCTACTGAGCCTGGAAGTGACAAAGACCCACCCCTGTCCCCACTCAGGCCACCTGCTGCTCCGATCACCTGCACTGCTGCCCCCAAGACACTGTGTGTGACCTGATCCAGAGTAAGTGCCTCTCCAAGGAGAACGCTACCACGGACCTCCTCACTAAGCTGCCTGCGCACACAGGTACCAGAGGCAGGGTGCAGATACAGGGGTGGGGCCCCCTTTCCTCCCTTTTAGGCCTGGCCTTAGGATCACTG
Task1_train_24720
Located on Chromosome 17, this mutation impacts GRN (granulin precursor). What is its biological consequence — is it benign or pathogenic, and which disease is associated if any?
Pathogenic; Parkinsonian disorder
TGAATTGTTTAGGGAATAATAAGAAAGAACTATCTGTAGATGTTCAGTATAGATGCACCCATCGTAAGCCTAACTACATTGTATAACTCAGCAACGATGTAACATTTTCAGGGGTTTTTTTGTTTTGTTTTTTGAGACAGAATCTCAGTCTCACTCTGTCACCCAGGCTGGAGTATGTTGGCGTGATCTCTGCTCACTGCAACCTCCACCTCCTGGGCTCAAGCGATTCTCCTGCCTCAGCCTCTTGAGTAGCTGGGATTGCAGGTGTGCGCTACCACGCATGGCTAATTTTTGTATTTTTAATAGAGATGGGGTTTTACCACGTTGGTCAGGCTGGTCTTGAACTCCTGACCTTGGGATCCGCCCACCTGGGCCTCCCAAAGTGCTGGGATTACAGGCGTTAGCCACCGCGCCCAATATATTTTGATCCCTGGTTGGATATGGAGGGCTGACTGTACTTAACATCTCTAAGCTTCAGTTTCCTCCTTTAAAATAAAGGTGTGGCTGGGTGTGGTGGTTCAAGCCTGTAATCCCAGCACTTAGGGAGGCTGAGGTGGGTGGATCAGCTGAGGTCAGGAGTTCAAGACCAGCCTGACCAATATGGTGAAACCCCCTCTCTGCTAAAAATACAAAAATTAGCCAGGCGTGGTGGCGAGCGCCTGTAGTCCCAGCTACTTGCTTGAACTTGGGAGGCAGAGGTTGCAGTGAGCTGAGATCGTGCCACTGAACTCGAGCATGGGCAACAGAGCAAGACTGTCTCAAAAAAAAAAAAAAAAAGGGGGTGAGCAGACGTGGTGGCACGCTCCCACAGTCCCAGCTACTTAGTAGGAGGCCAAGGTTGGAGGATTGCTTGATCCCAGGAGTCTGAGTCCAGCCTGGGCAACATGGCAATACCTCATCTCTAAAAATAAAATAAAAGTAAAGGTATTAATTACTACTTTGGATGGTTGTTGCAAAGAAATATATATAAAATAATGGAGAGTCTTGTAACTGGCTCCCAAGAGGCTCAACAGACATTACTGTTTTTGCTTCTTCATTATGAGTTACCTCTCTGGCCACCCCACTGAACTAGCTGGGCTAGCTGAGCCTGGGAGAAGAGTTGTTTAGGAAGTGAGAGGCTGCTCTCCACAGAGACTCAAGGCTCAGTTCCTCCTGGTGACTCAGATGGGCAGCCCAGTGGGCACACGTGGTCTCTCTCCACATGTGGCTGAGTTTCACTTCCAGAATAGATGGAGAGGCAAGGGCAGGGTTTAGCATGCTTGAGGAATCTCAGAGGGCCCTGGTGGTGTGGGGGACCCTCAGAACACAGGTGTCTCAAGGGCTGACCCAGCTTCTGTGTCCTTTTCTCTGGGTGAGGAGGGGACATTCATGGGCAGATGGTGACCTCTGGGGAAGGCAGCCCAGACTCCACTGGCCACCATATTTCCTTTTTCACAACTTTCTCACCCCTGTGGTTTCCCATGTCATCATGTGGCCGCTTCCCGCAAGGCCTTAGCGGGGTGCAGGTATGAACATAGTGTCAGGCAAGGAGGCATCTGGAGGGGAACCCTGGCTTTTCCTGGGGGGACTCCCTCCCTGCACCCTAGCCCTGTCCTCTCCCATGGCTACTGATGCCTTCCCCTCACCCCAGAGGTGGCCCACATCTGCACAGATCAGACCCACAAAAATCACGTCTTCCTGACTCTCATAAGCCTGCCCAGTGAGGCCCAGGCATTAGGCCATGTGCTGGGGACTCAGACCCACACATATACGCATGTCAGCATTCATGCTTACAGGTCCGCACATGCTGGGGCAAGTGTCACACACGGGGCGCTGTAGGAAGCTGACTCTCAGCCCCTGCAGATTTCTGCCTGCCTGGACAGGGAGGTGTTGAGAAGGCTCAGGCAGTCCTGGGCCAGGACCTTGGCCTGGGGCTAGGGTACTGAGTGACCCTAGAATCAAGGGTGGCGTGGGCTTAAGCAGTTGCCAGACGTTCCTTGGTACTTTGCAGGCAGACCATGTGGACCCTGGTGAGCTGGGTGGCCTTAACAGCAGGGCTGGTGGCTGGAACGCGGTGCCCAGATGGTCAGTTCTGCCCTGTGGCCTGCTGCCTGGACCCCGGAGGAGCCAGCTACAGCTGCTGCCGTCCCCTTCTGGTGAGTGCCCCTCAGCCTAGGCAAGAGCTGGCAGCCTGGGTTTTCCCAAAGGGTCATCTTGGATTGGCCAGAGGAGGACGCCAGGCACAAGTCTGTGGTTTATCATTTTCCCTGTCTTTCTAGGACAAATGGCCCACAACACTGAGCAGGCATCTGGGTGGCCCCTGCCAGGTTGATGCCCACTGCTCTGCCGGCCACTCCTGCATCTTTACCGTCTCAGGGACTTCCAGTTGCTGCCCCTTCCCAGAGGTGAGCGTGCCATCAGCCCAGTGGAGGGGCTTAGGTCTGCATTTATGCTTTTCCTGCACTCTACCACCTGCAGATAAAAGGGCCCTGCCAATGCAGGTTTCTCTGTGTTCCACAGGCCGTGGCATGCGGGGATGGCCATCACTGCTGCCCACGGGGCTTCCACTGCAGTGCAGACGGGCGATCCTGCTTCCAAAGATCAGGTGCAGCTGGGGTGTGGGTGCAGGGCAGGCAGACGGGCAGCATGTGGAGTCTGGAACCCAGGAGCCCAGCTGGCGGGGGCAGCCCTGATTCCTGCCCTTGTGCCCTCATTCATGTGGCATCTGTACTAAGCAACAGCCCTGCTGTGGACAGAGGGGCAGCACTGGGGATAGGAGGGTGCGGGAGAAAGTGCAAGACTCCAGGTCCAGGCGTTGTGGGGGTGGGGAGAGGTCGAGCTGGGCCGGTCTAATACCAACCCATGGTCAGTGGGTGCCCCTTCCCCATGCCATCTTGCTGAGGGAGGGACTGGATTGTGAGGAGGGTGAGTTAGGCCTGCCTAGGAGATCACTGAGCCTTAGTGTCACCCTCAAACCCCAGTAGCTGGGCTTGCAGGCCCTGGTGCCACCAGCTCCTTGTGTGATGGGGGAGTCACCTTCCCTGAGTGGGCTGGTAGTATCCTGGGTCATCTTGTCCACAGGTAACAACTCCGTGGGTGCCATCCAGTGCCCTGATAGTCAGTTCGAATGCCCGGACTTCTCCACGTGCTGTGTTATGGTCGATGGCTCCTGGGGGTGCTGCCCCATGCCCCAGGTACAAATCTGGGGGAGATGGGGGTATGTGGAGGGAAGTGGGGGCAGAGTTGGGGGCCAGGGGCAGGGGGTGAAGACGGAGTCAGGACCATTTTTTCTCAGGCTTCCTGCTGTGAAGACAGGGTGCACTGCTGTCCGCACGGTGCCTTCTGCGACCTGGTTCACACCCGCTGCATCACACCCACGGGCACCCACCCCCTGGCAAAGAAGCTCCCTGCCCAGAGGACTAACAGGGCAGGTGAGGAGGTGGGAGAGCATCAGGCCAGGGGCTGGGGCGGGGCCTCATTGACTCCAAGTGTAGGAAAAAGTTTCCTCCATCCTGGCTGCCCCTCACGTTTGCTCCTCTTCCAGTGGCCTTGTCCAGCTCGGTCATGTGTCCGGACGCACGGTCCCGGTGCCCTGATGGTTCTACCTGCTGTGAGCTGCCCAGTGGGAAGTATGGCTGCTGCCCAATGCCCAACGTGAGTGAGGGGCTGGAGCCAGCTTGGCTGTGTGCCCCCAGCCACCTGGCCCTGACACGCACCTTACAGGGGCTCTGTGGCATGGGGCTGGCTGGCTGCTTGCTGGGAGCCTGGCTGATGCAGGGTTCATGCTACCCCCTAGTGGGGGATTGGGGCAGTGCCAGCCATCAGCCTGGCTGCTCCCTGTGTGCTACTGAGCCTGGAAGTGACAAAGACCCACCCCTGTCCCCACTCAGGCCACCTGCTGCTCCGATCACCTGCACTGCTGCCCCCAAGACACTGTGTGTGACCTGATCCAGAGTAAGTGCCTCTCCAAGGAGAACGCTACCACGGACCTCCTCACTAAGCTGCCTGCGCACACAGGTACCAGAGGCAGGGTGCAGATACAGGGGTGGGGCCCCCTTTCCTCCCTTTTAGGCCTGGCCTTAGGATCACTGCAAGGTGGTGTAAGCGGTACCCTCCA
TGAATTGTTTAGGGAATAATAAGAAAGAACTATCTGTAGATGTTCAGTATAGATGCACCCATCGTAAGCCTAACTACATTGTATAACTCAGCAACGATGTAACATTTTCAGGGGTTTTTTTGTTTTGTTTTTTGAGACAGAATCTCAGTCTCACTCTGTCACCCAGGCTGGAGTATGTTGGCGTGATCTCTGCTCACTGCAACCTCCACCTCCTGGGCTCAAGCGATTCTCCTGCCTCAGCCTCTTGAGTAGCTGGGATTGCAGGTGTGCGCTACCACGCATGGCTAATTTTTGTATTTTTAATAGAGATGGGGTTTTACCACGTTGGTCAGGCTGGTCTTGAACTCCTGACCTTGGGATCCGCCCACCTGGGCCTCCCAAAGTGCTGGGATTACAGGCGTTAGCCACCGCGCCCAATATATTTTGATCCCTGGTTGGATATGGAGGGCTGACTGTACTTAACATCTCTAAGCTTCAGTTTCCTCCTTTAAAATAAAGGTGTGGCTGGGTGTGGTGGTTCAAGCCTGTAATCCCAGCACTTAGGGAGGCTGAGGTGGGTGGATCAGCTGAGGTCAGGAGTTCAAGACCAGCCTGACCAATATGGTGAAACCCCCTCTCTGCTAAAAATACAAAAATTAGCCAGGCGTGGTGGCGAGCGCCTGTAGTCCCAGCTACTTGCTTGAACTTGGGAGGCAGAGGTTGCAGTGAGCTGAGATCGTGCCACTGAACTCGAGCATGGGCAACAGAGCAAGACTGTCTCAAAAAAAAAAAAAAAAAGGGGGTGAGCAGACGTGGTGGCACGCTCCCACAGTCCCAGCTACTTAGTAGGAGGCCAAGGTTGGAGGATTGCTTGATCCCAGGAGTCTGAGTCCAGCCTGGGCAACATGGCAATACCTCATCTCTAAAAATAAAATAAAAGTAAAGGTATTAATTACTACTTTGGATGGTTGTTGCAAAGAAATATATATAAAATAATGGAGAGTCTTGTAACTGGCTCCCAAGAGGCTCAACAGACATTACTGTTTTTGCTTCTTCATTATGAGTTACCTCTCTGGCCACCCCACTGAACTAGCTGGGCTAGCTGAGCCTGGGAGAAGAGTTGTTTAGGAAGTGAGAGGCTGCTCTCCACAGAGACTCAAGGCTCAGTTCCTCCTGGTGACTCAGATGGGCAGCCCAGTGGGCACACGTGGTCTCTCTCCACATGTGGCTGAGTTTCACTTCCAGAATAGATGGAGAGGCAAGGGCAGGGTTTAGCATGCTTGAGGAATCTCAGAGGGCCCTGGTGGTGTGGGGGACCCTCAGAACACAGGTGTCTCAAGGGCTGACCCAGCTTCTGTGTCCTTTTCTCTGGGTGAGGAGGGGACATTCATGGGCAGATGGTGACCTCTGGGGAAGGCAGCCCAGACTCCACTGGCCACCATATTTCCTTTTTCACAACTTTCTCACCCCTGTGGTTTCCCATGTCATCATGTGGCCGCTTCCCGCAAGGCCTTAGCGGGGTGCAGGTATGAACATAGTGTCAGGCAAGGAGGCATCTGGAGGGGAACCCTGGCTTTTCCTGGGGGGACTCCCTCCCTGCACCCTAGCCCTGTCCTCTCCCATGGCTACTGATGCCTTCCCCTCACCCCAGAGGTGGCCCACATCTGCACAGATCAGACCCACAAAAATCACGTCTTCCTGACTCTCATAAGCCTGCCCAGTGAGGCCCAGGCATTAGGCCATGTGCTGGGGACTCAGACCCACACATATACGCATGTCAGCATTCATGCTTACAGGTCCGCACATGCTGGGGCAAGTGTCACACACGGGGCGCTGTAGGAAGCTGACTCTCAGCCCCTGCAGATTTCTGCCTGCCTGGACAGGGAGGTGTTGAGAAGGCTCAGGCAGTCCTGGGCCAGGACCTTGGCCTGGGGCTAGGGTACTGAGTGACCCTAGAATCAAGGGTGGCGTGGGCTTAAGCAGTTGCCAGACGTTCCTTGGTACTTTGCAGGCAGACCATGTGGACCCTGGTGAGCTGGGTGGCCTTAACAGCAGGGCTGGTGGCTGGAGCGCGGTGCCCAGATGGTCAGTTCTGCCCTGTGGCCTGCTGCCTGGACCCCGGAGGAGCCAGCTACAGCTGCTGCCGTCCCCTTCTGGTGAGTGCCCCTCAGCCTAGGCAAGAGCTGGCAGCCTGGGTTTTCCCAAAGGGTCATCTTGGATTGGCCAGAGGAGGACGCCAGGCACAAGTCTGTGGTTTATCATTTTCCCTGTCTTTCTAGGACAAATGGCCCACAACACTGAGCAGGCATCTGGGTGGCCCCTGCCAGGTTGATGCCCACTGCTCTGCCGGCCACTCCTGCATCTTTACCGTCTCAGGGACTTCCAGTTGCTGCCCCTTCCCAGAGGTGAGCGTGCCATCAGCCCAGTGGAGGGGCTTAGGTCTGCATTTATGCTTTTCCTGCACTCTACCACCTGCAGATAAAAGGGCCCTGCCAATGCAGGTTTCTCTGTGTTCCACAGGCCGTGGCATGCGGGGATGGCCATCACTGCTGCCCACGGGGCTTCCACTGCAGTGCAGACGGGCGATCCTGCTTCCAAAGATCAGGTGCAGCTGGGGTGTGGGTGCAGGGCAGGCAGACGGGCAGCATGTGGAGTCTGGAACCCAGGAGCCCAGCTGGCGGGGGCAGCCCTGATTCCTGCCCTTGTGCCCTCATTCATGTGGCATCTGTACTAAGCAACAGCCCTGCTGTGGACAGAGGGGCAGCACTGGGGATAGGAGGGTGCGGGAGAAAGTGCAAGACTCCAGGTCCAGGCGTTGTGGGGGTGGGGAGAGGTCGAGCTGGGCCGGTCTAATACCAACCCATGGTCAGTGGGTGCCCCTTCCCCATGCCATCTTGCTGAGGGAGGGACTGGATTGTGAGGAGGGTGAGTTAGGCCTGCCTAGGAGATCACTGAGCCTTAGTGTCACCCTCAAACCCCAGTAGCTGGGCTTGCAGGCCCTGGTGCCACCAGCTCCTTGTGTGATGGGGGAGTCACCTTCCCTGAGTGGGCTGGTAGTATCCTGGGTCATCTTGTCCACAGGTAACAACTCCGTGGGTGCCATCCAGTGCCCTGATAGTCAGTTCGAATGCCCGGACTTCTCCACGTGCTGTGTTATGGTCGATGGCTCCTGGGGGTGCTGCCCCATGCCCCAGGTACAAATCTGGGGGAGATGGGGGTATGTGGAGGGAAGTGGGGGCAGAGTTGGGGGCCAGGGGCAGGGGGTGAAGACGGAGTCAGGACCATTTTTTCTCAGGCTTCCTGCTGTGAAGACAGGGTGCACTGCTGTCCGCACGGTGCCTTCTGCGACCTGGTTCACACCCGCTGCATCACACCCACGGGCACCCACCCCCTGGCAAAGAAGCTCCCTGCCCAGAGGACTAACAGGGCAGGTGAGGAGGTGGGAGAGCATCAGGCCAGGGGCTGGGGCGGGGCCTCATTGACTCCAAGTGTAGGAAAAAGTTTCCTCCATCCTGGCTGCCCCTCACGTTTGCTCCTCTTCCAGTGGCCTTGTCCAGCTCGGTCATGTGTCCGGACGCACGGTCCCGGTGCCCTGATGGTTCTACCTGCTGTGAGCTGCCCAGTGGGAAGTATGGCTGCTGCCCAATGCCCAACGTGAGTGAGGGGCTGGAGCCAGCTTGGCTGTGTGCCCCCAGCCACCTGGCCCTGACACGCACCTTACAGGGGCTCTGTGGCATGGGGCTGGCTGGCTGCTTGCTGGGAGCCTGGCTGATGCAGGGTTCATGCTACCCCCTAGTGGGGGATTGGGGCAGTGCCAGCCATCAGCCTGGCTGCTCCCTGTGTGCTACTGAGCCTGGAAGTGACAAAGACCCACCCCTGTCCCCACTCAGGCCACCTGCTGCTCCGATCACCTGCACTGCTGCCCCCAAGACACTGTGTGTGACCTGATCCAGAGTAAGTGCCTCTCCAAGGAGAACGCTACCACGGACCTCCTCACTAAGCTGCCTGCGCACACAGGTACCAGAGGCAGGGTGCAGATACAGGGGTGGGGCCCCCTTTCCTCCCTTTTAGGCCTGGCCTTAGGATCACTGCAAGGTGGTGTAAGCGGTACCCTCCA
Task1_train_24721
This sequence change occurs on Chromosome 17, altering ITGA2B (integrin subunit alpha 2b). What is the medical significance of this variant — is it benign or linked to a disease?
Pathogenic; Glanzmann thrombasthenia
ACCTGGGGGTACACGGGGGCCAAGGTCAGGGTATACAGATGATTTGCTGGCCCCAGAGCACATGTGAGGAAGTATGCTAGCTATGAGCACCTCCCTGGACCAGCGCAGAACATGAAGCCCACTGTACTCACAAATGGATGCCTTTTGACATTTAGAGATAATGCATGGAACGAATTGTTGGGTTTTTGTTTTTTCTCCCCTGAGTTTTTATTTTTTTCTTTTTTTTAGAGGGAGTCTCACTCTGTCACCCAGGCTGTAGTGTAGTGGCTCGATCTCGGCTCAGTGCAGCCTCCACCTCCCGGGTTCAAACAATTCTCATGCCTCAGCCTCCCGAGTAGCTGGGTTTACAGGTGTGTGCCACCACGCCCAGCTAATTTTTAGTAGAGACAGGGTTTCACCCTGTTGGCCGGGCTGGTCTCAAACTCCTGACCTCAGGTGATCTGCCTGCCTCAGCCTCCCATTGTGTTGGGATTACAGGCATAAGCCACTGTGCCCGGCCTCTGAATTTTTCTTTTTTATTTTATTTTTAGAGACAGGGTCTTTCTGTTGTCACCCAGGCAATCCTCTCACCTCTTAGCCTCCCAAGTAGCTGGGACTACAGGTGTGGACTACCACACCTGACTAATTTTTTTTAAAAAACTTTTTTGTAGAGATGGAGTCTCACTATGCTGTCCCAAACTCCTGGCCTCAAGTGATCCACCGCGCCTGGTCCCCACCTGGAATTTTTCTTTTCTTTTCTTTTGAGATGAAATCTCACCCAGGCTGGAGTGCAGTGGCACAATCTTGGCTCACTGCAACCTTCACCTCCCGGGTTCAAGTGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGAAGTACAGGTGCCTGCCACCACGCCTGGCTAATTTTTGTATTTTTAGTAGAGATGGGGTTTCACCATGTTTGTCAGGCTGGTCTCGAACTCCTGACCTCATGAACCGCCCACCTCGGCCTCCCAAAGTGCTGGGATTACCGGTGTGAGCCACCACGCCCAGCCTGGAATTTTTCTTATACTGAAGTTTGTGTCTGCATGACTCGAGCATATGATGATATGTATTTGATTATTGTGGGTCTAGTGCGTGGTTTTCCCTAAAAGCACCATGTCTTCCCTTCAGTGTGCTTGAGACTCCTCCAGGTGCAGAGGAGCGAGTGACCCTCCAGGGCCACATAGGAAGGGAGGAATAGGGTCTAGACCAATCCTTGGGCCTCTTGCCTCACTCAAGGGGAAGGGCAGGGCTAGGAAGAAGTGCATCTTGTCCTTGAGACCAGCCAGGAATTCCTGAAGGCAGGACTTACACCCTCTATACCCTCTATATCCTCTGAATCTTTTTGGTGGCAGGGGTGTCTAAAGGCCTCAGAATTTCAGGTGCTATCCTTTCCAGTGGTATGTGTCTGGAAGGGTTCCCAGGAGAATGACATTTTTGTGTTTGTTTTGCCTTTTTTGCTCTACTAGAGAAAGACATTCTATTTTTTTCTTTTTTTTTTGAGATGGAGGCTCGCTCTGTTGCCCAAGCTGGAGTGCAGTGGTGTGATCTCGGCTCACTGCAACCTCCGCCTCCTGGGTTCATGCAATTCTACTGCCTCAGCCTCCCGAGTAGCTGAGATTACAGGCATGTGTCAACACGCCCGGCTAATTTTGGTATTTTTAGTAGAGATGGGGTTTCACCATGTTGGCCAGGCTGGTCTCGAACTCTTGACCTCAGGTGATCTAAACGCTTTGGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACCCCACTGGACCGAGAATGACATTCTAATAGTGGAGACATAGACCCCTGGTCCCTGGATTACCCACTTGGGTGGGCCACCATCTCTCCTTGACTCCCTGTGAGGCAGGGCAGAGCCAAGCCTGTGCCCCGCTGGGGACTCCACCGTCCTTCACACCTCACCTTCCACATGGCCAGGACCAGGATGGTGAGCAGCAGCAGGCCACCCAGCACACCCACCAGCACCCACCAGATTGGAATGGCCCTCTCCTCCAAGGCCCGGAGCAGCTGTGTCCACACCTGGGGGCAAACCCACGTGTCTCCTCAGTCACCTTGACACCTGCCTTTCACAAAGACTCAAACCTCAGGCTGGTGACCTCCAGCCATGCCACCCACCCGTACCACCCCTCAGACTTTTCTGGCTGGGCACTGACTGGGGGACAATGGGTCCTGCAGGACTGGTCTCTGCTCCATCCCCCCACACTCACCTGAGCTTCCCCTCGGGGCAGGCTGAGCGGGGGCACCGCATAGGGGAGGGAGGACACGTTGAACCATGCGTGCGACTGCAGCACAAACTGATCCAGAGGCCTCTGGACAGGTTGGGGTTGAAAGCCGTTTACACCCACAAGAGGCCTATTGGTTGCAGGAGTCCAGGTCCCACACCCCCGGCGGGGAAGCCCTGCCTCTGACCTAATCCCACTGCAATCCCCCAAAGTAAACCTTGCCTTCCCTCTCTTCCTGCCCTCCCACACCAAACCCCGCCCCTCCCAGAGCAAAGTGGTCCCCGCCCAGAAGGCCCGGCCCCGCCCCACCACGGCCCACCCCACCTGGTAGAGGCTGGGCAGCCACAGGAAGGCCAGCACCGTGACCATGGCCCGCTGCCCGCGCGCCATCTCCTGCAGGTCACACTGCACCACAGTACAGGGCGCCGAGTCGCAGCTCTGAGGGGAAGCATCGTCAGTCCCCAGCCCGTCCCGGCCCATCACCCCATCATCCCCCACCCCCTTACCCCCAGGACCCAACGCAGAAGGGGCCGGGGGTTCAGGAAGCGGTGGCCTTCCCATCAGGAAGGGCCTTGGATCCAAGCTTCGGATGCTGTCTTTCCACGGGCTTGCTCACATAGTCCCAGAGATGCAGGGAGGGTCATCCCCCAGCGCACAATGCTCAGATCTATGATAACCTTGCTTTGGCATTGTTTTATGCTCCTTAACGTACTGGGAAGCTTTTAAAAAGTGCAAGTGTCTTTCAGCTCACCCCAGACACAAGCCAGCATGCTCCTCCATGTTCACTTGAAGTGCTCCCAGGGACCAAGCGTGGCCCACAGAGGCCCACAGCACACCCGGACCCCTCTCCCTCCTCCCATCCCCTCTGCCCCGTGGGTCCCGGGGAGGCCGGGCCAGAGACCAGAGAGCCTGCTCACTACGAGAACTGGATCCTGAAGCCTCGAGGGCTGCTCGGGCTCTGGCAGGAAGATCTGTCTGCGATCCCGCTTGTGATGGGCCGGGTGAATGGGGGAGGGGCTGGGGATGGGCAGCCCCCAGTCCACCTGGGGGGGCAAAGGAGTGGTCAGGCCCAGGTCTCCCCCGAACCCCAGCCCACAGAGGTGCCCCGGTGGTTGGTCTGGGGCCGCCTTCCCAGGTCTTTCTTCCACCCAGCTCTTACCTTGAGAGGGTTGACAGGAGGCTGTGGGAAGCACTGAAGGCCCCCCTGGGGCTGTATATCCAGGATGTAGAGCAGGTCGGAGGGCTGGGACTGTCCCGGAAGGTGGATGCTGAGGTGAAGACCATTCACAGTCCCAGGGCCATTGTTGTGGAGCTGAAGGGGTGGTGGTGGCAGGGTGTGGGGAGCTTAGCGCCTCACCCGGAGTTCTGAGGACCCGCTCACCCCAGCCAGGGACGCGAGGCTCCCCAATACCTCATAGGTGTGCTCCACTTTGGGTCCCCAGCTGTCCAAGCTGTTCTGCTCCCTCTCACCTTCTTCTGCTGCCACCACCAGGGAGGCTGGAAAGGAGTTCCTGCAGGTGCCCAAGACCCCCAGAGAGAGTGTGATGCCCTGATTGGCCTGTGAGGTTTCCCCAGCGCCCCCTGGAGTTTAGAGCCCTGAATGCCATCTCCCTTCTCCACCCCTGGCCTCTCACCCTCGCAGCTCCACTTGGGCCTCTGCCCGGACCGGCACGTCCAGCAGCACAATCTTGCTGTTTGGATTCTGGCTGTTCTTGCTAGAGGGGAGGGGATGAGGAGAAACAGGGCCAGGGACACCAGCCCAGTGACTTTCTGGGGGTGAGGCCAGAATTTTAGAGAGTTCAGAGAGAGCTAATTATACAAAGAGCATGCCACACTGAAGTTAG
ACCTGGGGGTACACGGGGGCCAAGGTCAGGGTATACAGATGATTTGCTGGCCCCAGAGCACATGTGAGGAAGTATGCTAGCTATGAGCACCTCCCTGGACCAGCGCAGAACATGAAGCCCACTGTACTCACAAATGGATGCCTTTTGACATTTAGAGATAATGCATGGAACGAATTGTTGGGTTTTTGTTTTTTCTCCCCTGAGTTTTTATTTTTTTCTTTTTTTTAGAGGGAGTCTCACTCTGTCACCCAGGCTGTAGTGTAGTGGCTCGATCTCGGCTCAGTGCAGCCTCCACCTCCCGGGTTCAAACAATTCTCATGCCTCAGCCTCCCGAGTAGCTGGGTTTACAGGTGTGTGCCACCACGCCCAGCTAATTTTTAGTAGAGACAGGGTTTCACCCTGTTGGCCGGGCTGGTCTCAAACTCCTGACCTCAGGTGATCTGCCTGCCTCAGCCTCCCATTGTGTTGGGATTACAGGCATAAGCCACTGTGCCCGGCCTCTGAATTTTTCTTTTTTATTTTATTTTTAGAGACAGGGTCTTTCTGTTGTCACCCAGGCAATCCTCTCACCTCTTAGCCTCCCAAGTAGCTGGGACTACAGGTGTGGACTACCACACCTGACTAATTTTTTTTAAAAAACTTTTTTGTAGAGATGGAGTCTCACTATGCTGTCCCAAACTCCTGGCCTCAAGTGATCCACCGCGCCTGGTCCCCACCTGGAATTTTTCTTTTCTTTTCTTTTGAGATGAAATCTCACCCAGGCTGGAGTGCAGTGGCACAATCTTGGCTCACTGCAACCTTCACCTCCCGGGTTCAAGTGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGAAGTACAGGTGCCTGCCACCACGCCTGGCTAATTTTTGTATTTTTAGTAGAGATGGGGTTTCACCATGTTTGTCAGGCTGGTCTCGAACTCCTGACCTCATGAACCGCCCACCTCGGCCTCCCAAAGTGCTGGGATTACCGGTGTGAGCCACCACGCCCAGCCTGGAATTTTTCTTATACTGAAGTTTGTGTCTGCATGACTCGAGCATATGATGATATGTATTTGATTATTGTGGGTCTAGTGCGTGGTTTTCCCTAAAAGCACCATGTCTTCCCTTCAGTGTGCTTGAGACTCCTCCAGGTGCAGAGGAGCGAGTGACCCTCCAGGGCCACATAGGAAGGGAGGAATAGGGTCTAGACCAATCCTTGGGCCTCTTGCCTCACTCAAGGGGAAGGGCAGGGCTAGGAAGAAGTGCATCTTGTCCTTGAGACCAGCCAGGAATTCCTGAAGGCAGGACTTACACCCTCTATACCCTCTATATCCTCTGAATCTTTTTGGTGGCAGGGGTGTCTAAAGGCCTCAGAATTTCAGGTGCTATCCTTTCCAGTGGTATGTGTCTGGAAGGGTTCCCAGGAGAATGACATTTTTGTGTTTGTTTTGCCTTTTTTGCTCTACTAGAGAAAGACATTCTATTTTTTTCTTTTTTTTTTGAGATGGAGGCTCGCTCTGTTGCCCAAGCTGGAGTGCAGTGGTGTGATCTCGGCTCACTGCAACCTCCGCCTCCTGGGTTCATGCAATTCTACTGCCTCAGCCTCCCGAGTAGCTGAGATTACAGGCATGTGTCAACACGCCCGGCTAATTTTGGTATTTTTAGTAGAGATGGGGTTTCACCATGTTGGCCAGGCTGGTCTCGAACTCTTGACCTCAGGTGATCTAAACGCTTTGGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACCCCACTGGACCGAGAATGACATTCTAATAGTGGAGACATAGACCCCTGGTCCCTGGATTACCCACTTGGGTGGGCCACCATCTCTCCTTGACTCCCTGTGAGGCAGGGCAGAGCCAAGCCTGTGCCCCGCTGGGGACTCCACCGTCCTTCACACCTCACCTTCCACATGGCCAGGACCAGGATGGTGAGCAGCAGCAGGCCACCCAGCACACCCACCAGCACCCACCAGATTGGAATGGCCCTCTCCTCCAAGGCCCGGAGCAGCTGTGTCCACATCTGGGGGCAAACCCACGTGTCTCCTCAGTCACCTTGACACCTGCCTTTCACAAAGACTCAAACCTCAGGCTGGTGACCTCCAGCCATGCCACCCACCCGTACCACCCCTCAGACTTTTCTGGCTGGGCACTGACTGGGGGACAATGGGTCCTGCAGGACTGGTCTCTGCTCCATCCCCCCACACTCACCTGAGCTTCCCCTCGGGGCAGGCTGAGCGGGGGCACCGCATAGGGGAGGGAGGACACGTTGAACCATGCGTGCGACTGCAGCACAAACTGATCCAGAGGCCTCTGGACAGGTTGGGGTTGAAAGCCGTTTACACCCACAAGAGGCCTATTGGTTGCAGGAGTCCAGGTCCCACACCCCCGGCGGGGAAGCCCTGCCTCTGACCTAATCCCACTGCAATCCCCCAAAGTAAACCTTGCCTTCCCTCTCTTCCTGCCCTCCCACACCAAACCCCGCCCCTCCCAGAGCAAAGTGGTCCCCGCCCAGAAGGCCCGGCCCCGCCCCACCACGGCCCACCCCACCTGGTAGAGGCTGGGCAGCCACAGGAAGGCCAGCACCGTGACCATGGCCCGCTGCCCGCGCGCCATCTCCTGCAGGTCACACTGCACCACAGTACAGGGCGCCGAGTCGCAGCTCTGAGGGGAAGCATCGTCAGTCCCCAGCCCGTCCCGGCCCATCACCCCATCATCCCCCACCCCCTTACCCCCAGGACCCAACGCAGAAGGGGCCGGGGGTTCAGGAAGCGGTGGCCTTCCCATCAGGAAGGGCCTTGGATCCAAGCTTCGGATGCTGTCTTTCCACGGGCTTGCTCACATAGTCCCAGAGATGCAGGGAGGGTCATCCCCCAGCGCACAATGCTCAGATCTATGATAACCTTGCTTTGGCATTGTTTTATGCTCCTTAACGTACTGGGAAGCTTTTAAAAAGTGCAAGTGTCTTTCAGCTCACCCCAGACACAAGCCAGCATGCTCCTCCATGTTCACTTGAAGTGCTCCCAGGGACCAAGCGTGGCCCACAGAGGCCCACAGCACACCCGGACCCCTCTCCCTCCTCCCATCCCCTCTGCCCCGTGGGTCCCGGGGAGGCCGGGCCAGAGACCAGAGAGCCTGCTCACTACGAGAACTGGATCCTGAAGCCTCGAGGGCTGCTCGGGCTCTGGCAGGAAGATCTGTCTGCGATCCCGCTTGTGATGGGCCGGGTGAATGGGGGAGGGGCTGGGGATGGGCAGCCCCCAGTCCACCTGGGGGGGCAAAGGAGTGGTCAGGCCCAGGTCTCCCCCGAACCCCAGCCCACAGAGGTGCCCCGGTGGTTGGTCTGGGGCCGCCTTCCCAGGTCTTTCTTCCACCCAGCTCTTACCTTGAGAGGGTTGACAGGAGGCTGTGGGAAGCACTGAAGGCCCCCCTGGGGCTGTATATCCAGGATGTAGAGCAGGTCGGAGGGCTGGGACTGTCCCGGAAGGTGGATGCTGAGGTGAAGACCATTCACAGTCCCAGGGCCATTGTTGTGGAGCTGAAGGGGTGGTGGTGGCAGGGTGTGGGGAGCTTAGCGCCTCACCCGGAGTTCTGAGGACCCGCTCACCCCAGCCAGGGACGCGAGGCTCCCCAATACCTCATAGGTGTGCTCCACTTTGGGTCCCCAGCTGTCCAAGCTGTTCTGCTCCCTCTCACCTTCTTCTGCTGCCACCACCAGGGAGGCTGGAAAGGAGTTCCTGCAGGTGCCCAAGACCCCCAGAGAGAGTGTGATGCCCTGATTGGCCTGTGAGGTTTCCCCAGCGCCCCCTGGAGTTTAGAGCCCTGAATGCCATCTCCCTTCTCCACCCCTGGCCTCTCACCCTCGCAGCTCCACTTGGGCCTCTGCCCGGACCGGCACGTCCAGCAGCACAATCTTGCTGTTTGGATTCTGGCTGTTCTTGCTAGAGGGGAGGGGATGAGGAGAAACAGGGCCAGGGACACCAGCCCAGTGACTTTCTGGGGGTGAGGCCAGAATTTTAGAGAGTTCAGAGAGAGCTAATTATACAAAGAGCATGCCACACTGAAGTTAG
Task1_train_24722
A mutation found in ITGA2B (integrin subunit alpha 2b) on Chromosome 17 may be clinically relevant. Is it pathogenic or benign, and if the former, which disease is implicated?
Pathogenic; Glanzmann thrombasthenia
TCTCTCCTTGACTCCCTGTGAGGCAGGGCAGAGCCAAGCCTGTGCCCCGCTGGGGACTCCACCGTCCTTCACACCTCACCTTCCACATGGCCAGGACCAGGATGGTGAGCAGCAGCAGGCCACCCAGCACACCCACCAGCACCCACCAGATTGGAATGGCCCTCTCCTCCAAGGCCCGGAGCAGCTGTGTCCACACCTGGGGGCAAACCCACGTGTCTCCTCAGTCACCTTGACACCTGCCTTTCACAAAGACTCAAACCTCAGGCTGGTGACCTCCAGCCATGCCACCCACCCGTACCACCCCTCAGACTTTTCTGGCTGGGCACTGACTGGGGGACAATGGGTCCTGCAGGACTGGTCTCTGCTCCATCCCCCCACACTCACCTGAGCTTCCCCTCGGGGCAGGCTGAGCGGGGGCACCGCATAGGGGAGGGAGGACACGTTGAACCATGCGTGCGACTGCAGCACAAACTGATCCAGAGGCCTCTGGACAGGTTGGGGTTGAAAGCCGTTTACACCCACAAGAGGCCTATTGGTTGCAGGAGTCCAGGTCCCACACCCCCGGCGGGGAAGCCCTGCCTCTGACCTAATCCCACTGCAATCCCCCAAAGTAAACCTTGCCTTCCCTCTCTTCCTGCCCTCCCACACCAAACCCCGCCCCTCCCAGAGCAAAGTGGTCCCCGCCCAGAAGGCCCGGCCCCGCCCCACCACGGCCCACCCCACCTGGTAGAGGCTGGGCAGCCACAGGAAGGCCAGCACCGTGACCATGGCCCGCTGCCCGCGCGCCATCTCCTGCAGGTCACACTGCACCACAGTACAGGGCGCCGAGTCGCAGCTCTGAGGGGAAGCATCGTCAGTCCCCAGCCCGTCCCGGCCCATCACCCCATCATCCCCCACCCCCTTACCCCCAGGACCCAACGCAGAAGGGGCCGGGGGTTCAGGAAGCGGTGGCCTTCCCATCAGGAAGGGCCTTGGATCCAAGCTTCGGATGCTGTCTTTCCACGGGCTTGCTCACATAGTCCCAGAGATGCAGGGAGGGTCATCCCCCAGCGCACAATGCTCAGATCTATGATAACCTTGCTTTGGCATTGTTTTATGCTCCTTAACGTACTGGGAAGCTTTTAAAAAGTGCAAGTGTCTTTCAGCTCACCCCAGACACAAGCCAGCATGCTCCTCCATGTTCACTTGAAGTGCTCCCAGGGACCAAGCGTGGCCCACAGAGGCCCACAGCACACCCGGACCCCTCTCCCTCCTCCCATCCCCTCTGCCCCGTGGGTCCCGGGGAGGCCGGGCCAGAGACCAGAGAGCCTGCTCACTACGAGAACTGGATCCTGAAGCCTCGAGGGCTGCTCGGGCTCTGGCAGGAAGATCTGTCTGCGATCCCGCTTGTGATGGGCCGGGTGAATGGGGGAGGGGCTGGGGATGGGCAGCCCCCAGTCCACCTGGGGGGGCAAAGGAGTGGTCAGGCCCAGGTCTCCCCCGAACCCCAGCCCACAGAGGTGCCCCGGTGGTTGGTCTGGGGCCGCCTTCCCAGGTCTTTCTTCCACCCAGCTCTTACCTTGAGAGGGTTGACAGGAGGCTGTGGGAAGCACTGAAGGCCCCCCTGGGGCTGTATATCCAGGATGTAGAGCAGGTCGGAGGGCTGGGACTGTCCCGGAAGGTGGATGCTGAGGTGAAGACCATTCACAGTCCCAGGGCCATTGTTGTGGAGCTGAAGGGGTGGTGGTGGCAGGGTGTGGGGAGCTTAGCGCCTCACCCGGAGTTCTGAGGACCCGCTCACCCCAGCCAGGGACGCGAGGCTCCCCAATACCTCATAGGTGTGCTCCACTTTGGGTCCCCAGCTGTCCAAGCTGTTCTGCTCCCTCTCACCTTCTTCTGCTGCCACCACCAGGGAGGCTGGAAAGGAGTTCCTGCAGGTGCCCAAGACCCCCAGAGAGAGTGTGATGCCCTGATTGGCCTGTGAGGTTTCCCCAGCGCCCCCTGGAGTTTAGAGCCCTGAATGCCATCTCCCTTCTCCACCCCTGGCCTCTCACCCTCGCAGCTCCACTTGGGCCTCTGCCCGGACCGGCACGTCCAGCAGCACAATCTTGCTGTTTGGATTCTGGCTGTTCTTGCTAGAGGGGAGGGGATGAGGAGAAACAGGGCCAGGGACACCAGCCCAGTGACTTTCTGGGGGTGAGGCCAGAATTTTAGAGAGTTCAGAGAGAGCTAATTATACAAAGAGCATGCCACACTGAAGTTAGACCTGGGAAAGAACTTCCTCTAGGGCTCCAAGACTCAGACATAAATCTCTGAGGAAGAAAGGGAACCAGGCTTCTTCAAAGACCTTTTTTTTTTTCTTTTGAGATAGAATCTCGCACTGTCGCCCAGGCTGGAAGGCTGGAGTGCAGTGGCCCAATCTCAGCTCACTGCAACCTCCACCTCCCAGGTTCGGTTCAAGCTATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGATTGTAGGTGCGCACCACCATGCCCAGCTAATTTTTATATTTTTAGTAGAGATGGGGTTTCACCATGTTGGCCAGGCTGGTCTCCAACTCCTGACCTCCAGTGATCCTTCTGCCTTGGCCTCGCAACGTGCTGGGATTACAGGTGTGAGCCACTGCGCCTGGCCTCGAAAGACCCTTCTGTATGGAAGGGACCTGAGGGGCTCTGCACGGGGGTCAGACGGGGGAAGGGTGGTGGGTAGGCACGCTCGCCAGGTCAGTACCTCCGTATCTGCAGCTGGAAGGACACAGACTCCCCAGCCTCTTCCAGATTCCCCACGCTCACCAACATCGCGATTCCTATCTGGGAGATGAGGAGGGCCAAGGTCACTGCCCAAGTGCCCCACTTAGGACAGCCCTGCCCTGAATGTGGCCTCCAGTCTTCACCCTCCAAGATCACCACTATTCTTTTTCTTTTTTTTTTTTTCCGAGACGGAGTCTCACTCTGTCACCCAGGCTGGAGTGCAGTGGCATGATCTCGGCTCACTGCAACCTCCACCTCCCAGGTTCAAGTGATTTTTCTGCCTCAACCTCCCGAGTAGCTCTGACTATAGGCGTGCGCCACCATGCCCGGGTAATTTTTGTATTTTTAGTAGAGACGGGGTTTTGCTATGTTGGCCAGGCTGGTCTTGAACTCCTGACCTCGTGATCCACCCGTCTCGGCCTCCCAGAGTGCTGGGATTACAGGCGTGAGCCACCGCACCAGGCCACCATTATTATTTCTATTTTACCTGGAAGCCCACTGGGTAAAGGGGCTCAGAGAGGGAAAGTCACTCACCCAAGGACATGTGGCAAGGGAGTGTGAGGACCAAGATTCTGGCCCAGAACTATGTGGCTCTAAAACCTCACCCCTAAAATCTGGTTATTCATGAGCCCCTGGTGGAGACCCGGTACCACGACCCAGCAGCCTCACCTGGGCGTTCTTCTTCATGGGGTTGCCCAGCTCACACAGCACCACCCTGGTCTCATTCTCCTTCTTCTGATTACAGATGAGTCTCTCAAAGCCCTTCAGGAAGGCAGTTCCAAGAAAGAAATTACAGAGCATCATATATATATATTTAAGCTCCCTTGGAAGGTCTGGAAAGATTTGTGTGCCAAGGTAGGGAGGGGGGGGTTTCTTGGGGTGGGGTCTCAAGGGACTGTCACATGCTAGTGTGTGTATTGCTGTAGCACTACTACTTTTTAGGCATTTTCATTTTGGAAATAAAAAACACAAAACATTAGAGTATGACCCCCATTATTATAAACTATATTAACAACATAAAAAATAAATATATACTTATGTGAGTGTGAGTCAATATTGAAAAAAAGACTGGAAGGAAATCCACCAAATGTTAACAGAGGTTCCTGTTAACATTTGGTTCCTAAACCTTTTTTGTTTTTCTGGTTTTTGTAATAGAGTTTTGGAATTCTGTGCCATTAGCAAGTATTCCTCCTCCAAATTAAAAAAAAAATAAAAAATTACATCTTTGACAGCAAAGCAGAAGAGAAGAGGGACTCTCAGGGAGGGAGATGAGAGAGCCAAGGCTCCAGTGCCTCCCAGGTCCCGGGTACTGTTCCCAGGGTGGGGGCCATACCTCGACATT
TCTCTCCTTGACTCCCTGTGAGGCAGGGCAGAGCCAAGCCTGTGCCCCGCTGGGGACTCCACCGTCCTTCACACCTCACCTTCCACATGGCCAGGACCAGGATGGTGAGCAGCAGCAGGCCACCCAGCACACCCACCAGCACCCACCAGATTGGAATGGCCCTCTCCTCCAAGGCCCGGAGCAGCTGTGTCCACACCTGGGGGCAAACCCACGTGTCTCCTCAGTCACCTTGACACCTGCCTTTCACAAAGACTCAAACCTCAGGCTGGTGACCTCCAGCCATGCCACCCACCCGTACCACCCCTCAGACTTTTCTGGCTGGGCACTGACTGGGGGACAATGGGTCCTGCAGGACTGGTCTCTGCTCCATCCCCCCACACTCACCTGAGCTTCCCCTCGGGGCAGGCTGAGCGGGGGCACCGCATAGGGGAGGGAGGACACGTTGAACCATGCGTGCGACTGCAGCACAAACTGATCCAGAGGCCTCTGGACAGGTTGGGGTTGAAAGCCGTTTACACCCACAAGAGGCCTATTGGTTGCAGGAGTCCAGGTCCCACACCCCCGGCGGGGAAGCCCTGCCTCTGACCTAATCCCACTGCAATCCCCCAAAGTAAACCTTGCCTTCCCTCTCTTCCTGCCCTCCCACACCAAACCCCGCCCCTCCCAGAGCAAAGTGGTCCCCGCCCAGAAGGCCCGGCCCCGCCCCACCACGGCCCACCCCACCTGGTAGAGGCTGGGCAGCCACAGGAAGGCCAGCACCGTGACCATGGCCCGCTGCCCGCGCGCCATCTCCTGCAGGTCACACTGCACCACAGTACAGGGCGCCGAGTCGCAGCTCTGAGGGGAAGCATCGTCAGTCCCCAGCCCGTCCCGGCCCATCACCCCATCATCCCCCACCCCCTTACCCCCAGGACCCAACGCAGAAGGGGCCGGGGGTTCAGGAAGCGGTGGCCTTCCCATCAGGAAGGGCCTTGGATCCAAGCTTCGGATGCTGTCTTTCCACGGGCTTGCTCACATAGTCCCAGAGATGCAGGGAGGGTCATCCCCCAGCGCACAATGCTCAGATCTATGATAACCTTGCTTTGGCATTGTTTTATGCTCCTTAACGTACTGGGAAGCTTTTAAAAAGTGCAAGTGTCTTTCAGCTCACCCCAGACACAAGCCAGCATGCTCCTCCATGTTCACTTGAAGTGCTCCCAGGGACCAAGCGTGGCCCACAGAGGCCCACAGCACACCCGGACCCCTCTCCCTCCTCCCATCCCCTCTGCCCCGTGGGTCCCGGGGAGGCCGGGCCAGAGACCAGAGAGCCTGCTCACTACGAGAACTGGATCCTGAAGCCTCGAGGGCTGCTCGGGCTCTGGCAGGAAGATCTGTCTGCGATCCCGCTTGTGATGGGCCGGGTGAATGGGGGAGGGGCTGGGGATGGGCAGCCCCCAGTCCACCTGGGGGGGCAAAGGAGTGGTCAGGCCCAGGTCTCCCCCGAACCCCAGCCCACAGAGGTGCCCCGGTGGTTGGTCTGGGGCCGCCTTCCCAGGTCTTTCTTCCACCCAGCTCTTACCTTGAGAGGGTTGACAGGAGGCTGTGGGAAGCACTGAAGGCCCCCCTGGGGCTGTATATCCAGGATGTAGAGCAGGTCGGAGGGCTGGGACTGTCCCGGAAGGTGGATGCTGAGGTGAAGACCATTCACAGTCCCAGGGCCATTGTTGTGGAGCTGAAGGGGTGGTGGTGGCAGGGTGTGGGGAGCTTAGCGCCTCACCCGGAGTTCTGAGGACCCGCTCACCCCAGCCAGGGACGCGAGGCTCCCCAATACCTCATAGGTGTGCTCCACTTTGGGTCCCCAGCTGTCCAAGCTGTTCTGCTCCCTCTCACCTTCTTCTGCTGCCACCACCAGGGAGGCTGGAAAGGAGTTCCTGCAGGTGCCCAAGACCCCCAGAGAGAGTGTGATGCCCTGATTGGCCTGTGAGGTTTCCCCAGCGCCCCCTGGAGTTTAGAGCCCTGAATGCCATCTCCCTTCTCCACCCCTGGCCTCTCACCCTCGCAGCTCCACTGGGGCCTCTGCCCGGACCGGCACGTCCAGCAGCACAATCTTGCTGTTTGGATTCTGGCTGTTCTTGCTAGAGGGGAGGGGATGAGGAGAAACAGGGCCAGGGACACCAGCCCAGTGACTTTCTGGGGGTGAGGCCAGAATTTTAGAGAGTTCAGAGAGAGCTAATTATACAAAGAGCATGCCACACTGAAGTTAGACCTGGGAAAGAACTTCCTCTAGGGCTCCAAGACTCAGACATAAATCTCTGAGGAAGAAAGGGAACCAGGCTTCTTCAAAGACCTTTTTTTTTTTCTTTTGAGATAGAATCTCGCACTGTCGCCCAGGCTGGAAGGCTGGAGTGCAGTGGCCCAATCTCAGCTCACTGCAACCTCCACCTCCCAGGTTCGGTTCAAGCTATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGATTGTAGGTGCGCACCACCATGCCCAGCTAATTTTTATATTTTTAGTAGAGATGGGGTTTCACCATGTTGGCCAGGCTGGTCTCCAACTCCTGACCTCCAGTGATCCTTCTGCCTTGGCCTCGCAACGTGCTGGGATTACAGGTGTGAGCCACTGCGCCTGGCCTCGAAAGACCCTTCTGTATGGAAGGGACCTGAGGGGCTCTGCACGGGGGTCAGACGGGGGAAGGGTGGTGGGTAGGCACGCTCGCCAGGTCAGTACCTCCGTATCTGCAGCTGGAAGGACACAGACTCCCCAGCCTCTTCCAGATTCCCCACGCTCACCAACATCGCGATTCCTATCTGGGAGATGAGGAGGGCCAAGGTCACTGCCCAAGTGCCCCACTTAGGACAGCCCTGCCCTGAATGTGGCCTCCAGTCTTCACCCTCCAAGATCACCACTATTCTTTTTCTTTTTTTTTTTTTCCGAGACGGAGTCTCACTCTGTCACCCAGGCTGGAGTGCAGTGGCATGATCTCGGCTCACTGCAACCTCCACCTCCCAGGTTCAAGTGATTTTTCTGCCTCAACCTCCCGAGTAGCTCTGACTATAGGCGTGCGCCACCATGCCCGGGTAATTTTTGTATTTTTAGTAGAGACGGGGTTTTGCTATGTTGGCCAGGCTGGTCTTGAACTCCTGACCTCGTGATCCACCCGTCTCGGCCTCCCAGAGTGCTGGGATTACAGGCGTGAGCCACCGCACCAGGCCACCATTATTATTTCTATTTTACCTGGAAGCCCACTGGGTAAAGGGGCTCAGAGAGGGAAAGTCACTCACCCAAGGACATGTGGCAAGGGAGTGTGAGGACCAAGATTCTGGCCCAGAACTATGTGGCTCTAAAACCTCACCCCTAAAATCTGGTTATTCATGAGCCCCTGGTGGAGACCCGGTACCACGACCCAGCAGCCTCACCTGGGCGTTCTTCTTCATGGGGTTGCCCAGCTCACACAGCACCACCCTGGTCTCATTCTCCTTCTTCTGATTACAGATGAGTCTCTCAAAGCCCTTCAGGAAGGCAGTTCCAAGAAAGAAATTACAGAGCATCATATATATATATTTAAGCTCCCTTGGAAGGTCTGGAAAGATTTGTGTGCCAAGGTAGGGAGGGGGGGGTTTCTTGGGGTGGGGTCTCAAGGGACTGTCACATGCTAGTGTGTGTATTGCTGTAGCACTACTACTTTTTAGGCATTTTCATTTTGGAAATAAAAAACACAAAACATTAGAGTATGACCCCCATTATTATAAACTATATTAACAACATAAAAAATAAATATATACTTATGTGAGTGTGAGTCAATATTGAAAAAAAGACTGGAAGGAAATCCACCAAATGTTAACAGAGGTTCCTGTTAACATTTGGTTCCTAAACCTTTTTTGTTTTTCTGGTTTTTGTAATAGAGTTTTGGAATTCTGTGCCATTAGCAAGTATTCCTCCTCCAAATTAAAAAAAAAATAAAAAATTACATCTTTGACAGCAAAGCAGAAGAGAAGAGGGACTCTCAGGGAGGGAGATGAGAGAGCCAAGGCTCCAGTGCCTCCCAGGTCCCGGGTACTGTTCCCAGGGTGGGGGCCATACCTCGACATT
Task1_train_24723
This alteration in ITGA2B (integrin subunit alpha 2b) on Chromosome 17 may affect gene function. Does it lead to a disease or is it benign?
Pathogenic; Glanzmann thrombasthenia
CCCGCCCCACCACGGCCCACCCCACCTGGTAGAGGCTGGGCAGCCACAGGAAGGCCAGCACCGTGACCATGGCCCGCTGCCCGCGCGCCATCTCCTGCAGGTCACACTGCACCACAGTACAGGGCGCCGAGTCGCAGCTCTGAGGGGAAGCATCGTCAGTCCCCAGCCCGTCCCGGCCCATCACCCCATCATCCCCCACCCCCTTACCCCCAGGACCCAACGCAGAAGGGGCCGGGGGTTCAGGAAGCGGTGGCCTTCCCATCAGGAAGGGCCTTGGATCCAAGCTTCGGATGCTGTCTTTCCACGGGCTTGCTCACATAGTCCCAGAGATGCAGGGAGGGTCATCCCCCAGCGCACAATGCTCAGATCTATGATAACCTTGCTTTGGCATTGTTTTATGCTCCTTAACGTACTGGGAAGCTTTTAAAAAGTGCAAGTGTCTTTCAGCTCACCCCAGACACAAGCCAGCATGCTCCTCCATGTTCACTTGAAGTGCTCCCAGGGACCAAGCGTGGCCCACAGAGGCCCACAGCACACCCGGACCCCTCTCCCTCCTCCCATCCCCTCTGCCCCGTGGGTCCCGGGGAGGCCGGGCCAGAGACCAGAGAGCCTGCTCACTACGAGAACTGGATCCTGAAGCCTCGAGGGCTGCTCGGGCTCTGGCAGGAAGATCTGTCTGCGATCCCGCTTGTGATGGGCCGGGTGAATGGGGGAGGGGCTGGGGATGGGCAGCCCCCAGTCCACCTGGGGGGGCAAAGGAGTGGTCAGGCCCAGGTCTCCCCCGAACCCCAGCCCACAGAGGTGCCCCGGTGGTTGGTCTGGGGCCGCCTTCCCAGGTCTTTCTTCCACCCAGCTCTTACCTTGAGAGGGTTGACAGGAGGCTGTGGGAAGCACTGAAGGCCCCCCTGGGGCTGTATATCCAGGATGTAGAGCAGGTCGGAGGGCTGGGACTGTCCCGGAAGGTGGATGCTGAGGTGAAGACCATTCACAGTCCCAGGGCCATTGTTGTGGAGCTGAAGGGGTGGTGGTGGCAGGGTGTGGGGAGCTTAGCGCCTCACCCGGAGTTCTGAGGACCCGCTCACCCCAGCCAGGGACGCGAGGCTCCCCAATACCTCATAGGTGTGCTCCACTTTGGGTCCCCAGCTGTCCAAGCTGTTCTGCTCCCTCTCACCTTCTTCTGCTGCCACCACCAGGGAGGCTGGAAAGGAGTTCCTGCAGGTGCCCAAGACCCCCAGAGAGAGTGTGATGCCCTGATTGGCCTGTGAGGTTTCCCCAGCGCCCCCTGGAGTTTAGAGCCCTGAATGCCATCTCCCTTCTCCACCCCTGGCCTCTCACCCTCGCAGCTCCACTTGGGCCTCTGCCCGGACCGGCACGTCCAGCAGCACAATCTTGCTGTTTGGATTCTGGCTGTTCTTGCTAGAGGGGAGGGGATGAGGAGAAACAGGGCCAGGGACACCAGCCCAGTGACTTTCTGGGGGTGAGGCCAGAATTTTAGAGAGTTCAGAGAGAGCTAATTATACAAAGAGCATGCCACACTGAAGTTAGACCTGGGAAAGAACTTCCTCTAGGGCTCCAAGACTCAGACATAAATCTCTGAGGAAGAAAGGGAACCAGGCTTCTTCAAAGACCTTTTTTTTTTTCTTTTGAGATAGAATCTCGCACTGTCGCCCAGGCTGGAAGGCTGGAGTGCAGTGGCCCAATCTCAGCTCACTGCAACCTCCACCTCCCAGGTTCGGTTCAAGCTATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGATTGTAGGTGCGCACCACCATGCCCAGCTAATTTTTATATTTTTAGTAGAGATGGGGTTTCACCATGTTGGCCAGGCTGGTCTCCAACTCCTGACCTCCAGTGATCCTTCTGCCTTGGCCTCGCAACGTGCTGGGATTACAGGTGTGAGCCACTGCGCCTGGCCTCGAAAGACCCTTCTGTATGGAAGGGACCTGAGGGGCTCTGCACGGGGGTCAGACGGGGGAAGGGTGGTGGGTAGGCACGCTCGCCAGGTCAGTACCTCCGTATCTGCAGCTGGAAGGACACAGACTCCCCAGCCTCTTCCAGATTCCCCACGCTCACCAACATCGCGATTCCTATCTGGGAGATGAGGAGGGCCAAGGTCACTGCCCAAGTGCCCCACTTAGGACAGCCCTGCCCTGAATGTGGCCTCCAGTCTTCACCCTCCAAGATCACCACTATTCTTTTTCTTTTTTTTTTTTTCCGAGACGGAGTCTCACTCTGTCACCCAGGCTGGAGTGCAGTGGCATGATCTCGGCTCACTGCAACCTCCACCTCCCAGGTTCAAGTGATTTTTCTGCCTCAACCTCCCGAGTAGCTCTGACTATAGGCGTGCGCCACCATGCCCGGGTAATTTTTGTATTTTTAGTAGAGACGGGGTTTTGCTATGTTGGCCAGGCTGGTCTTGAACTCCTGACCTCGTGATCCACCCGTCTCGGCCTCCCAGAGTGCTGGGATTACAGGCGTGAGCCACCGCACCAGGCCACCATTATTATTTCTATTTTACCTGGAAGCCCACTGGGTAAAGGGGCTCAGAGAGGGAAAGTCACTCACCCAAGGACATGTGGCAAGGGAGTGTGAGGACCAAGATTCTGGCCCAGAACTATGTGGCTCTAAAACCTCACCCCTAAAATCTGGTTATTCATGAGCCCCTGGTGGAGACCCGGTACCACGACCCAGCAGCCTCACCTGGGCGTTCTTCTTCATGGGGTTGCCCAGCTCACACAGCACCACCCTGGTCTCATTCTCCTTCTTCTGATTACAGATGAGTCTCTCAAAGCCCTTCAGGAAGGCAGTTCCAAGAAAGAAATTACAGAGCATCATATATATATATTTAAGCTCCCTTGGAAGGTCTGGAAAGATTTGTGTGCCAAGGTAGGGAGGGGGGGGTTTCTTGGGGTGGGGTCTCAAGGGACTGTCACATGCTAGTGTGTGTATTGCTGTAGCACTACTACTTTTTAGGCATTTTCATTTTGGAAATAAAAAACACAAAACATTAGAGTATGACCCCCATTATTATAAACTATATTAACAACATAAAAAATAAATATATACTTATGTGAGTGTGAGTCAATATTGAAAAAAAGACTGGAAGGAAATCCACCAAATGTTAACAGAGGTTCCTGTTAACATTTGGTTCCTAAACCTTTTTTGTTTTTCTGGTTTTTGTAATAGAGTTTTGGAATTCTGTGCCATTAGCAAGTATTCCTCCTCCAAATTAAAAAAAAAATAAAAAATTACATCTTTGACAGCAAAGCAGAAGAGAAGAGGGACTCTCAGGGAGGGAGATGAGAGAGCCAAGGCTCCAGTGCCTCCCAGGTCCCGGGTACTGTTCCCAGGGTGGGGGCCATACCTCGACATTGCTTAGGGCCCGCATGTAGTGGGCGCCCTGGGGCAGGTGCACGGCCAGCTCTGCTTCATAGGCCCCCTCGCCCTCGTTGGCTGCGTCCATCTGCAGCTCCAGGACATTATCTGCCCCAACTAGGAGCGGGGAGCCCGTCCTGTGGGGAAAGAGGAGTGAAGCCAGGGAGCCTGGGTCTGGGCCCAGGATGTGGGAAAAGAGGGGACTAAGGTGTGGAGCAGGTATGATAGGCAGAAAGGGCCAGGGTCGGGCAGAATGGGAGGCCTCCTCACACGCTGGCAGTGAGCTGAAGCTGGGGCACACATACGTCATCTTCCCCACAGTCCAGGACGATTCGTGTCTAGAGGGGCACATTGGGGTGTGCGGGTAAGTTGGGGATGTGTGAGGTTTAGGGATTACATCAGGGTTAGGAAAACAGTGGGCTTGGGGTTCACATAGGGGCTTAGGGAGTAAGAAGATCTGAGGACGAAAAGGAGTTTGTAGATGGTATCGGGGCTCGGGTTTATTTGGAGGTTTGGGACAATGTCAGGGTTTGTCAATTTACATCAGAGCTTAGGGGATACTGGGATTTTCAGGTGTTTATTTTATTTTTGGAGACGGAGTCTCGCTCTGTCGTCCAGGCTGGAGTGCAGTGGCACTATCTCGGCTCACTGCAAGCTCCGCCCCCCGGGGTTCACGCCATTCTCCTGCCTCAGCCT
CCCGCCCCACCACGGCCCACCCCACCTGGTAGAGGCTGGGCAGCCACAGGAAGGCCAGCACCGTGACCATGGCCCGCTGCCCGCGCGCCATCTCCTGCAGGTCACACTGCACCACAGTACAGGGCGCCGAGTCGCAGCTCTGAGGGGAAGCATCGTCAGTCCCCAGCCCGTCCCGGCCCATCACCCCATCATCCCCCACCCCCTTACCCCCAGGACCCAACGCAGAAGGGGCCGGGGGTTCAGGAAGCGGTGGCCTTCCCATCAGGAAGGGCCTTGGATCCAAGCTTCGGATGCTGTCTTTCCACGGGCTTGCTCACATAGTCCCAGAGATGCAGGGAGGGTCATCCCCCAGCGCACAATGCTCAGATCTATGATAACCTTGCTTTGGCATTGTTTTATGCTCCTTAACGTACTGGGAAGCTTTTAAAAAGTGCAAGTGTCTTTCAGCTCACCCCAGACACAAGCCAGCATGCTCCTCCATGTTCACTTGAAGTGCTCCCAGGGACCAAGCGTGGCCCACAGAGGCCCACAGCACACCCGGACCCCTCTCCCTCCTCCCATCCCCTCTGCCCCGTGGGTCCCGGGGAGGCCGGGCCAGAGACCAGAGAGCCTGCTCACTACGAGAACTGGATCCTGAAGCCTCGAGGGCTGCTCGGGCTCTGGCAGGAAGATCTGTCTGCGATCCCGCTTGTGATGGGCCGGGTGAATGGGGGAGGGGCTGGGGATGGGCAGCCCCCAGTCCACCTGGGGGGGCAAAGGAGTGGTCAGGCCCAGGTCTCCCCCGAACCCCAGCCCACAGAGGTGCCCCGGTGGTTGGTCTGGGGCCGCCTTCCCAGGTCTTTCTTCCACCCAGCTCTTACCTTGAGAGGGTTGACAGGAGGCTGTGGGAAGCACTGAAGGCCCCCCTGGGGCTGTATATCCAGGATGTAGAGCAGGTCGGAGGGCTGGGACTGTCCCGGAAGGTGGATGCTGAGGTGAAGACCATTCACAGTCCCAGGGCCATTGTTGTGGAGCTGAAGGGGTGGTGGTGGCAGGGTGTGGGGAGCTTAGCGCCTCACCCGGAGTTCTGAGGACCCGCTCACCCCAGCCAGGGACGCGAGGCTCCCCAATACCTCATAGGTGTGCTCCACTTTGGGTCCCCAGCTGTCCAAGCTGTTCTGCTCCCTCTCACCTTCTTCTGCTGCCACCACCAGGGAGGCTGGAAAGGAGTTCCTGCAGGTGCCCAAGACCCCCAGAGAGAGTGTGATGCCCTGATTGGCCTGTGAGGTTTCCCCAGCGCCCCCTGGAGTTTAGAGCCCTGAATGCCATCTCCCTTCTCCACCCCTGGCCTCTCACCCTCGCAGCTCCACTTGGGCCTCTGCCCGGACCGGCACGTCCAGCAGCACAATCTTGCTGTTTGGATTCTGGCTGTTCTTGCTAGAGGGGAGGGGATGAGGAGAAACAGGGCCAGGGACACCAGCCCAGTGACTTTCTGGGGGTGAGGCCAGAATTTTAGAGAGTTCAGAGAGAGCTAATTATACAAAGAGCATGCCACACTGAAGTTAGACCTGGGAAAGAACTTCCTCTAGGGCTCCAAGACTCAGACATAAATCTCTGAGGAAGAAAGGGAACCAGGCTTCTTCAAAGACCTTTTTTTTTTTCTTTTGAGATAGAATCTCGCACTGTCGCCCAGGCTGGAAGGCTGGAGTGCAGTGGCCCAATCTCAGCTCACTGCAACCTCCACCTCCCAGGTTCGGTTCAAGCTATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGATTGTAGGTGCGCACCACCATGCCCAGCTAATTTTTATATTTTTAGTAGAGATGGGGTTTCACCATGTTGGCCAGGCTGGTCTCCAACTCCTGACCTCCAGTGATCCTTCTGCCTTGGCCTCGCAACGTGCTGGGATTACAGGTGTGAGCCACTGCGCCTGGCCTCGAAAGACCCTTCTGTATGGAAGGGACCTGAGGGGCTCTGCACGGGGGTCAGACGGGGGAAGGGTGGTGGGTAGGCACGCTCGCCAGGTCAGTACCTCCGTATCTGCCGCTGGAAGGACACAGACTCCCCAGCCTCTTCCAGATTCCCCACGCTCACCAACATCGCGATTCCTATCTGGGAGATGAGGAGGGCCAAGGTCACTGCCCAAGTGCCCCACTTAGGACAGCCCTGCCCTGAATGTGGCCTCCAGTCTTCACCCTCCAAGATCACCACTATTCTTTTTCTTTTTTTTTTTTTCCGAGACGGAGTCTCACTCTGTCACCCAGGCTGGAGTGCAGTGGCATGATCTCGGCTCACTGCAACCTCCACCTCCCAGGTTCAAGTGATTTTTCTGCCTCAACCTCCCGAGTAGCTCTGACTATAGGCGTGCGCCACCATGCCCGGGTAATTTTTGTATTTTTAGTAGAGACGGGGTTTTGCTATGTTGGCCAGGCTGGTCTTGAACTCCTGACCTCGTGATCCACCCGTCTCGGCCTCCCAGAGTGCTGGGATTACAGGCGTGAGCCACCGCACCAGGCCACCATTATTATTTCTATTTTACCTGGAAGCCCACTGGGTAAAGGGGCTCAGAGAGGGAAAGTCACTCACCCAAGGACATGTGGCAAGGGAGTGTGAGGACCAAGATTCTGGCCCAGAACTATGTGGCTCTAAAACCTCACCCCTAAAATCTGGTTATTCATGAGCCCCTGGTGGAGACCCGGTACCACGACCCAGCAGCCTCACCTGGGCGTTCTTCTTCATGGGGTTGCCCAGCTCACACAGCACCACCCTGGTCTCATTCTCCTTCTTCTGATTACAGATGAGTCTCTCAAAGCCCTTCAGGAAGGCAGTTCCAAGAAAGAAATTACAGAGCATCATATATATATATTTAAGCTCCCTTGGAAGGTCTGGAAAGATTTGTGTGCCAAGGTAGGGAGGGGGGGGTTTCTTGGGGTGGGGTCTCAAGGGACTGTCACATGCTAGTGTGTGTATTGCTGTAGCACTACTACTTTTTAGGCATTTTCATTTTGGAAATAAAAAACACAAAACATTAGAGTATGACCCCCATTATTATAAACTATATTAACAACATAAAAAATAAATATATACTTATGTGAGTGTGAGTCAATATTGAAAAAAAGACTGGAAGGAAATCCACCAAATGTTAACAGAGGTTCCTGTTAACATTTGGTTCCTAAACCTTTTTTGTTTTTCTGGTTTTTGTAATAGAGTTTTGGAATTCTGTGCCATTAGCAAGTATTCCTCCTCCAAATTAAAAAAAAAATAAAAAATTACATCTTTGACAGCAAAGCAGAAGAGAAGAGGGACTCTCAGGGAGGGAGATGAGAGAGCCAAGGCTCCAGTGCCTCCCAGGTCCCGGGTACTGTTCCCAGGGTGGGGGCCATACCTCGACATTGCTTAGGGCCCGCATGTAGTGGGCGCCCTGGGGCAGGTGCACGGCCAGCTCTGCTTCATAGGCCCCCTCGCCCTCGTTGGCTGCGTCCATCTGCAGCTCCAGGACATTATCTGCCCCAACTAGGAGCGGGGAGCCCGTCCTGTGGGGAAAGAGGAGTGAAGCCAGGGAGCCTGGGTCTGGGCCCAGGATGTGGGAAAAGAGGGGACTAAGGTGTGGAGCAGGTATGATAGGCAGAAAGGGCCAGGGTCGGGCAGAATGGGAGGCCTCCTCACACGCTGGCAGTGAGCTGAAGCTGGGGCACACATACGTCATCTTCCCCACAGTCCAGGACGATTCGTGTCTAGAGGGGCACATTGGGGTGTGCGGGTAAGTTGGGGATGTGTGAGGTTTAGGGATTACATCAGGGTTAGGAAAACAGTGGGCTTGGGGTTCACATAGGGGCTTAGGGAGTAAGAAGATCTGAGGACGAAAAGGAGTTTGTAGATGGTATCGGGGCTCGGGTTTATTTGGAGGTTTGGGACAATGTCAGGGTTTGTCAATTTACATCAGAGCTTAGGGGATACTGGGATTTTCAGGTGTTTATTTTATTTTTGGAGACGGAGTCTCGCTCTGTCGTCCAGGCTGGAGTGCAGTGGCACTATCTCGGCTCACTGCAAGCTCCGCCCCCCGGGGTTCACGCCATTCTCCTGCCTCAGCCT
Task1_train_24724
A sequence alteration has been identified in ITGA2B (integrin subunit alpha 2b) on Chromosome 17. Is it disease-inducing or harmless?
Pathogenic; Glanzmann thrombasthenia
GGCAAAGGAGTGGTCAGGCCCAGGTCTCCCCCGAACCCCAGCCCACAGAGGTGCCCCGGTGGTTGGTCTGGGGCCGCCTTCCCAGGTCTTTCTTCCACCCAGCTCTTACCTTGAGAGGGTTGACAGGAGGCTGTGGGAAGCACTGAAGGCCCCCCTGGGGCTGTATATCCAGGATGTAGAGCAGGTCGGAGGGCTGGGACTGTCCCGGAAGGTGGATGCTGAGGTGAAGACCATTCACAGTCCCAGGGCCATTGTTGTGGAGCTGAAGGGGTGGTGGTGGCAGGGTGTGGGGAGCTTAGCGCCTCACCCGGAGTTCTGAGGACCCGCTCACCCCAGCCAGGGACGCGAGGCTCCCCAATACCTCATAGGTGTGCTCCACTTTGGGTCCCCAGCTGTCCAAGCTGTTCTGCTCCCTCTCACCTTCTTCTGCTGCCACCACCAGGGAGGCTGGAAAGGAGTTCCTGCAGGTGCCCAAGACCCCCAGAGAGAGTGTGATGCCCTGATTGGCCTGTGAGGTTTCCCCAGCGCCCCCTGGAGTTTAGAGCCCTGAATGCCATCTCCCTTCTCCACCCCTGGCCTCTCACCCTCGCAGCTCCACTTGGGCCTCTGCCCGGACCGGCACGTCCAGCAGCACAATCTTGCTGTTTGGATTCTGGCTGTTCTTGCTAGAGGGGAGGGGATGAGGAGAAACAGGGCCAGGGACACCAGCCCAGTGACTTTCTGGGGGTGAGGCCAGAATTTTAGAGAGTTCAGAGAGAGCTAATTATACAAAGAGCATGCCACACTGAAGTTAGACCTGGGAAAGAACTTCCTCTAGGGCTCCAAGACTCAGACATAAATCTCTGAGGAAGAAAGGGAACCAGGCTTCTTCAAAGACCTTTTTTTTTTTCTTTTGAGATAGAATCTCGCACTGTCGCCCAGGCTGGAAGGCTGGAGTGCAGTGGCCCAATCTCAGCTCACTGCAACCTCCACCTCCCAGGTTCGGTTCAAGCTATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGATTGTAGGTGCGCACCACCATGCCCAGCTAATTTTTATATTTTTAGTAGAGATGGGGTTTCACCATGTTGGCCAGGCTGGTCTCCAACTCCTGACCTCCAGTGATCCTTCTGCCTTGGCCTCGCAACGTGCTGGGATTACAGGTGTGAGCCACTGCGCCTGGCCTCGAAAGACCCTTCTGTATGGAAGGGACCTGAGGGGCTCTGCACGGGGGTCAGACGGGGGAAGGGTGGTGGGTAGGCACGCTCGCCAGGTCAGTACCTCCGTATCTGCAGCTGGAAGGACACAGACTCCCCAGCCTCTTCCAGATTCCCCACGCTCACCAACATCGCGATTCCTATCTGGGAGATGAGGAGGGCCAAGGTCACTGCCCAAGTGCCCCACTTAGGACAGCCCTGCCCTGAATGTGGCCTCCAGTCTTCACCCTCCAAGATCACCACTATTCTTTTTCTTTTTTTTTTTTTCCGAGACGGAGTCTCACTCTGTCACCCAGGCTGGAGTGCAGTGGCATGATCTCGGCTCACTGCAACCTCCACCTCCCAGGTTCAAGTGATTTTTCTGCCTCAACCTCCCGAGTAGCTCTGACTATAGGCGTGCGCCACCATGCCCGGGTAATTTTTGTATTTTTAGTAGAGACGGGGTTTTGCTATGTTGGCCAGGCTGGTCTTGAACTCCTGACCTCGTGATCCACCCGTCTCGGCCTCCCAGAGTGCTGGGATTACAGGCGTGAGCCACCGCACCAGGCCACCATTATTATTTCTATTTTACCTGGAAGCCCACTGGGTAAAGGGGCTCAGAGAGGGAAAGTCACTCACCCAAGGACATGTGGCAAGGGAGTGTGAGGACCAAGATTCTGGCCCAGAACTATGTGGCTCTAAAACCTCACCCCTAAAATCTGGTTATTCATGAGCCCCTGGTGGAGACCCGGTACCACGACCCAGCAGCCTCACCTGGGCGTTCTTCTTCATGGGGTTGCCCAGCTCACACAGCACCACCCTGGTCTCATTCTCCTTCTTCTGATTACAGATGAGTCTCTCAAAGCCCTTCAGGAAGGCAGTTCCAAGAAAGAAATTACAGAGCATCATATATATATATTTAAGCTCCCTTGGAAGGTCTGGAAAGATTTGTGTGCCAAGGTAGGGAGGGGGGGGTTTCTTGGGGTGGGGTCTCAAGGGACTGTCACATGCTAGTGTGTGTATTGCTGTAGCACTACTACTTTTTAGGCATTTTCATTTTGGAAATAAAAAACACAAAACATTAGAGTATGACCCCCATTATTATAAACTATATTAACAACATAAAAAATAAATATATACTTATGTGAGTGTGAGTCAATATTGAAAAAAAGACTGGAAGGAAATCCACCAAATGTTAACAGAGGTTCCTGTTAACATTTGGTTCCTAAACCTTTTTTGTTTTTCTGGTTTTTGTAATAGAGTTTTGGAATTCTGTGCCATTAGCAAGTATTCCTCCTCCAAATTAAAAAAAAAATAAAAAATTACATCTTTGACAGCAAAGCAGAAGAGAAGAGGGACTCTCAGGGAGGGAGATGAGAGAGCCAAGGCTCCAGTGCCTCCCAGGTCCCGGGTACTGTTCCCAGGGTGGGGGCCATACCTCGACATTGCTTAGGGCCCGCATGTAGTGGGCGCCCTGGGGCAGGTGCACGGCCAGCTCTGCTTCATAGGCCCCCTCGCCCTCGTTGGCTGCGTCCATCTGCAGCTCCAGGACATTATCTGCCCCAACTAGGAGCGGGGAGCCCGTCCTGTGGGGAAAGAGGAGTGAAGCCAGGGAGCCTGGGTCTGGGCCCAGGATGTGGGAAAAGAGGGGACTAAGGTGTGGAGCAGGTATGATAGGCAGAAAGGGCCAGGGTCGGGCAGAATGGGAGGCCTCCTCACACGCTGGCAGTGAGCTGAAGCTGGGGCACACATACGTCATCTTCCCCACAGTCCAGGACGATTCGTGTCTAGAGGGGCACATTGGGGTGTGCGGGTAAGTTGGGGATGTGTGAGGTTTAGGGATTACATCAGGGTTAGGAAAACAGTGGGCTTGGGGTTCACATAGGGGCTTAGGGAGTAAGAAGATCTGAGGACGAAAAGGAGTTTGTAGATGGTATCGGGGCTCGGGTTTATTTGGAGGTTTGGGACAATGTCAGGGTTTGTCAATTTACATCAGAGCTTAGGGGATACTGGGATTTTCAGGTGTTTATTTTATTTTTGGAGACGGAGTCTCGCTCTGTCGTCCAGGCTGGAGTGCAGTGGCACTATCTCGGCTCACTGCAAGCTCCGCCCCCCGGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGACTACAGGTACCCGCCACCACGCCCAGCTAATTTTTTTTTTTTTTTTGTATTTTTAGTAGACGGGGTTTCACTGTGTTAGCCAGGATGGTCTTGATCTCCTGACCTCGTGATCCACCCGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACTGCGCCTGGCTTTTTTTTTTTTTTTTGAGACAGAGTCTTGCTCTGTCACCCAGGCTGGAGTGCTGTGGCACACTCTTGGCTCACTGCAACCTCTGCCTCCTGGGTTCAAGTGATTCTCCTGCTTCAGCCTCCCGAGTAGCTGGAATTACAGGCATGCGTCACCACACCCGGCTAATTTTTTTTGTATTTTTAGTAGAGATGGGTTTTCACCATGTTGGCCAGGTTGGTCTCTAACTCCTGACCTCAGGCAATCTGCCTGCCTCGGTCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACCATGACTGGCTGGATTTTGAGGTTTTCATTAGGGTTTGGAATGACATCAAGGTTTTGGGGTTCACATTGTGACTTGGCACTAACCCTAATCCTGATTTGCTATCAGGGGTCCTGCACCTCCCTGGCCTGTCCCTGCCTGTCCCTACCTGCTCCTGCACATGGGTGTCTCCATGCAGCACGACAGCAGGGGCCATTCCAGCCTCCGTGGGCGGTAGGGACACATTGAGGCTGAGCACAATGGGGCTCAGCTTGTCCCGGAAGTCTGCCTCATCCTAGG
GGCAAAGGAGTGGTCAGGCCCAGGTCTCCCCCGAACCCCAGCCCACAGAGGTGCCCCGGTGGTTGGTCTGGGGCCGCCTTCCCAGGTCTTTCTTCCACCCAGCTCTTACCTTGAGAGGGTTGACAGGAGGCTGTGGGAAGCACTGAAGGCCCCCCTGGGGCTGTATATCCAGGATGTAGAGCAGGTCGGAGGGCTGGGACTGTCCCGGAAGGTGGATGCTGAGGTGAAGACCATTCACAGTCCCAGGGCCATTGTTGTGGAGCTGAAGGGGTGGTGGTGGCAGGGTGTGGGGAGCTTAGCGCCTCACCCGGAGTTCTGAGGACCCGCTCACCCCAGCCAGGGACGCGAGGCTCCCCAATACCTCATAGGTGTGCTCCACTTTGGGTCCCCAGCTGTCCAAGCTGTTCTGCTCCCTCTCACCTTCTTCTGCTGCCACCACCAGGGAGGCTGGAAAGGAGTTCCTGCAGGTGCCCAAGACCCCCAGAGAGAGTGTGATGCCCTGATTGGCCTGTGAGGTTTCCCCAGCGCCCCCTGGAGTTTAGAGCCCTGAATGCCATCTCCCTTCTCCACCCCTGGCCTCTCACCCTCGCAGCTCCACTTGGGCCTCTGCCCGGACCGGCACGTCCAGCAGCACAATCTTGCTGTTTGGATTCTGGCTGTTCTTGCTAGAGGGGAGGGGATGAGGAGAAACAGGGCCAGGGACACCAGCCCAGTGACTTTCTGGGGGTGAGGCCAGAATTTTAGAGAGTTCAGAGAGAGCTAATTATACAAAGAGCATGCCACACTGAAGTTAGACCTGGGAAAGAACTTCCTCTAGGGCTCCAAGACTCAGACATAAATCTCTGAGGAAGAAAGGGAACCAGGCTTCTTCAAAGACCTTTTTTTTTTTCTTTTGAGATAGAATCTCGCACTGTCGCCCAGGCTGGAAGGCTGGAGTGCAGTGGCCCAATCTCAGCTCACTGCAACCTCCACCTCCCAGGTTCGGTTCAAGCTATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGATTGTAGGTGCGCACCACCATGCCCAGCTAATTTTTATATTTTTAGTAGAGATGGGGTTTCACCATGTTGGCCAGGCTGGTCTCCAACTCCTGACCTCCAGTGATCCTTCTGCCTTGGCCTCGCAACGTGCTGGGATTACAGGTGTGAGCCACTGCGCCTGGCCTCGAAAGACCCTTCTGTATGGAAGGGACCTGAGGGGCTCTGCACGGGGGTCAGACGGGGGAAGGGTGGTGGGTAGGCACGCTCGCCAGGTCAGTACCTCCGTATCTGCAGCTGGAAGGACACAGACTCCCCAGCCTCTTCCAGATTCCCCACGCTCACCAACATCGCGATTCCTATCTGGGAGATGAGGAGGGCCAAGGTCACTGCCCAAGTGCCCCACTTAGGACAGCCCTGCCCTGAATGTGGCCTCCAGTCTTCACCCTCCAAGATCACCACTATTCTTTTTCTTTTTTTTTTTTTCCGAGACGGAGTCTCACTCTGTCACCCAGGCTGGAGTGCAGTGGCATGATCTCGGCTCACTGCAACCTCCACCTCCCAGGTTCAAGTGATTTTTCTGCCTCAACCTCCCGAGTAGCTCTGACTATAGGCGTGCGCCACCATGCCCGGGTAATTTTTGTATTTTTAGTAGAGACGGGGTTTTGCTATGTTGGCCAGGCTGGTCTTGAACTCCTGACCTCGTGATCCACCCGTCTCGGCCTCCCAGAGTGCTGGGATTACAGGCGTGAGCCACCGCACCAGGCCACCATTATTATTTCTATTTTACCTGGAAGCCCACTGGGTAAAGGGGCTCAGAGAGGGAAAGTCACTCACCCAAGGACATGTGGCAAGGGAGTGTGAGGACCAAGATTCTGGCCCAGAACTATGTGGCTCTAAAACCTCACCCCTAAAATCTGGTTATTCATGAGCCCCTGGTGGAGACCCGGTACCACGACCCAGCAGCCTCACCTGGGCGTTCTTCTTCATGGGGTTGCCCAGCTCACACAGCACCACCCTGGTCTCATTCTCCTTCTTCTGATTACGGATGAGTCTCTCAAAGCCCTTCAGGAAGGCAGTTCCAAGAAAGAAATTACAGAGCATCATATATATATATTTAAGCTCCCTTGGAAGGTCTGGAAAGATTTGTGTGCCAAGGTAGGGAGGGGGGGGTTTCTTGGGGTGGGGTCTCAAGGGACTGTCACATGCTAGTGTGTGTATTGCTGTAGCACTACTACTTTTTAGGCATTTTCATTTTGGAAATAAAAAACACAAAACATTAGAGTATGACCCCCATTATTATAAACTATATTAACAACATAAAAAATAAATATATACTTATGTGAGTGTGAGTCAATATTGAAAAAAAGACTGGAAGGAAATCCACCAAATGTTAACAGAGGTTCCTGTTAACATTTGGTTCCTAAACCTTTTTTGTTTTTCTGGTTTTTGTAATAGAGTTTTGGAATTCTGTGCCATTAGCAAGTATTCCTCCTCCAAATTAAAAAAAAAATAAAAAATTACATCTTTGACAGCAAAGCAGAAGAGAAGAGGGACTCTCAGGGAGGGAGATGAGAGAGCCAAGGCTCCAGTGCCTCCCAGGTCCCGGGTACTGTTCCCAGGGTGGGGGCCATACCTCGACATTGCTTAGGGCCCGCATGTAGTGGGCGCCCTGGGGCAGGTGCACGGCCAGCTCTGCTTCATAGGCCCCCTCGCCCTCGTTGGCTGCGTCCATCTGCAGCTCCAGGACATTATCTGCCCCAACTAGGAGCGGGGAGCCCGTCCTGTGGGGAAAGAGGAGTGAAGCCAGGGAGCCTGGGTCTGGGCCCAGGATGTGGGAAAAGAGGGGACTAAGGTGTGGAGCAGGTATGATAGGCAGAAAGGGCCAGGGTCGGGCAGAATGGGAGGCCTCCTCACACGCTGGCAGTGAGCTGAAGCTGGGGCACACATACGTCATCTTCCCCACAGTCCAGGACGATTCGTGTCTAGAGGGGCACATTGGGGTGTGCGGGTAAGTTGGGGATGTGTGAGGTTTAGGGATTACATCAGGGTTAGGAAAACAGTGGGCTTGGGGTTCACATAGGGGCTTAGGGAGTAAGAAGATCTGAGGACGAAAAGGAGTTTGTAGATGGTATCGGGGCTCGGGTTTATTTGGAGGTTTGGGACAATGTCAGGGTTTGTCAATTTACATCAGAGCTTAGGGGATACTGGGATTTTCAGGTGTTTATTTTATTTTTGGAGACGGAGTCTCGCTCTGTCGTCCAGGCTGGAGTGCAGTGGCACTATCTCGGCTCACTGCAAGCTCCGCCCCCCGGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGACTACAGGTACCCGCCACCACGCCCAGCTAATTTTTTTTTTTTTTTTGTATTTTTAGTAGACGGGGTTTCACTGTGTTAGCCAGGATGGTCTTGATCTCCTGACCTCGTGATCCACCCGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACTGCGCCTGGCTTTTTTTTTTTTTTTTGAGACAGAGTCTTGCTCTGTCACCCAGGCTGGAGTGCTGTGGCACACTCTTGGCTCACTGCAACCTCTGCCTCCTGGGTTCAAGTGATTCTCCTGCTTCAGCCTCCCGAGTAGCTGGAATTACAGGCATGCGTCACCACACCCGGCTAATTTTTTTTGTATTTTTAGTAGAGATGGGTTTTCACCATGTTGGCCAGGTTGGTCTCTAACTCCTGACCTCAGGCAATCTGCCTGCCTCGGTCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACCATGACTGGCTGGATTTTGAGGTTTTCATTAGGGTTTGGAATGACATCAAGGTTTTGGGGTTCACATTGTGACTTGGCACTAACCCTAATCCTGATTTGCTATCAGGGGTCCTGCACCTCCCTGGCCTGTCCCTGCCTGTCCCTACCTGCTCCTGCACATGGGTGTCTCCATGCAGCACGACAGCAGGGGCCATTCCAGCCTCCGTGGGCGGTAGGGACACATTGAGGCTGAGCACAATGGGGCTCAGCTTGTCCCGGAAGTCTGCCTCATCCTAGG
Task1_train_24725
Assess the clinical impact of this variant on gene ITGA2B (integrin subunit alpha 2b), found on Chromosome 17. State whether it’s pathogenic or benign, and the disease if applicable.
Pathogenic; Glanzmann thrombasthenia
ATCTGGTTATTCATGAGCCCCTGGTGGAGACCCGGTACCACGACCCAGCAGCCTCACCTGGGCGTTCTTCTTCATGGGGTTGCCCAGCTCACACAGCACCACCCTGGTCTCATTCTCCTTCTTCTGATTACAGATGAGTCTCTCAAAGCCCTTCAGGAAGGCAGTTCCAAGAAAGAAATTACAGAGCATCATATATATATATTTAAGCTCCCTTGGAAGGTCTGGAAAGATTTGTGTGCCAAGGTAGGGAGGGGGGGGTTTCTTGGGGTGGGGTCTCAAGGGACTGTCACATGCTAGTGTGTGTATTGCTGTAGCACTACTACTTTTTAGGCATTTTCATTTTGGAAATAAAAAACACAAAACATTAGAGTATGACCCCCATTATTATAAACTATATTAACAACATAAAAAATAAATATATACTTATGTGAGTGTGAGTCAATATTGAAAAAAAGACTGGAAGGAAATCCACCAAATGTTAACAGAGGTTCCTGTTAACATTTGGTTCCTAAACCTTTTTTGTTTTTCTGGTTTTTGTAATAGAGTTTTGGAATTCTGTGCCATTAGCAAGTATTCCTCCTCCAAATTAAAAAAAAAATAAAAAATTACATCTTTGACAGCAAAGCAGAAGAGAAGAGGGACTCTCAGGGAGGGAGATGAGAGAGCCAAGGCTCCAGTGCCTCCCAGGTCCCGGGTACTGTTCCCAGGGTGGGGGCCATACCTCGACATTGCTTAGGGCCCGCATGTAGTGGGCGCCCTGGGGCAGGTGCACGGCCAGCTCTGCTTCATAGGCCCCCTCGCCCTCGTTGGCTGCGTCCATCTGCAGCTCCAGGACATTATCTGCCCCAACTAGGAGCGGGGAGCCCGTCCTGTGGGGAAAGAGGAGTGAAGCCAGGGAGCCTGGGTCTGGGCCCAGGATGTGGGAAAAGAGGGGACTAAGGTGTGGAGCAGGTATGATAGGCAGAAAGGGCCAGGGTCGGGCAGAATGGGAGGCCTCCTCACACGCTGGCAGTGAGCTGAAGCTGGGGCACACATACGTCATCTTCCCCACAGTCCAGGACGATTCGTGTCTAGAGGGGCACATTGGGGTGTGCGGGTAAGTTGGGGATGTGTGAGGTTTAGGGATTACATCAGGGTTAGGAAAACAGTGGGCTTGGGGTTCACATAGGGGCTTAGGGAGTAAGAAGATCTGAGGACGAAAAGGAGTTTGTAGATGGTATCGGGGCTCGGGTTTATTTGGAGGTTTGGGACAATGTCAGGGTTTGTCAATTTACATCAGAGCTTAGGGGATACTGGGATTTTCAGGTGTTTATTTTATTTTTGGAGACGGAGTCTCGCTCTGTCGTCCAGGCTGGAGTGCAGTGGCACTATCTCGGCTCACTGCAAGCTCCGCCCCCCGGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGACTACAGGTACCCGCCACCACGCCCAGCTAATTTTTTTTTTTTTTTTGTATTTTTAGTAGACGGGGTTTCACTGTGTTAGCCAGGATGGTCTTGATCTCCTGACCTCGTGATCCACCCGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACTGCGCCTGGCTTTTTTTTTTTTTTTTGAGACAGAGTCTTGCTCTGTCACCCAGGCTGGAGTGCTGTGGCACACTCTTGGCTCACTGCAACCTCTGCCTCCTGGGTTCAAGTGATTCTCCTGCTTCAGCCTCCCGAGTAGCTGGAATTACAGGCATGCGTCACCACACCCGGCTAATTTTTTTTGTATTTTTAGTAGAGATGGGTTTTCACCATGTTGGCCAGGTTGGTCTCTAACTCCTGACCTCAGGCAATCTGCCTGCCTCGGTCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACCATGACTGGCTGGATTTTGAGGTTTTCATTAGGGTTTGGAATGACATCAAGGTTTTGGGGTTCACATTGTGACTTGGCACTAACCCTAATCCTGATTTGCTATCAGGGGTCCTGCACCTCCCTGGCCTGTCCCTGCCTGTCCCTACCTGCTCCTGCACATGGGTGTCTCCATGCAGCACGACAGCAGGGGCCATTCCAGCCTCCGTGGGCGGTAGGGACACATTGAGGCTGAGCACAATGGGGCTCAGCTTGTCCCGGAAGTCTGCCTCATCCTAGGACAGGGGCAAGAGTCAGGCCATCTTGCTACCATACACATCCCACCTTCTCCTGGCCAGTAGGCACCGTGTCCTGACCACCCCCGGACTCACAGCACCCAGCTCAGTGCCCCAGGGCTAGATGAACAAGTCCAGTGGGTAAGTTCTACTCTCCCAGCCCTGCCAATCCCCTGCCTGGGCGTACTCGAAGGAAGGCCATGGTGGTGTGGCAGATGGGGCTGTGCTTTCCGCCCAGATCCAGGTTCAGGGTGGTGCCTGCCTGTTGAGAGCCCAGCAGCAGCACCCGCCGGCCCTGGCGGGGCTTCTGCCGGTCCAGCTGCAGCTCGGCATTTAGGGCTGGCAGGGCAAGCAGAAGAGTCAGGACCTCCCTGGCCAGCCTCCGGGGGAGTCCAAGCCCACCTCCCTCCTGCCCCCTTCATGCCACTCACATAGCTTCTGAGGAATGTTGTGCCCAGTGGCTCCAACACACATCTGGATGTTGAAGCTGCAAAGACGTAAGTGGGGCTCAGGGGTTGGAGCCTTTCTGAGGTCCCAGATCCTTTAAGGCCCATGCCCTCTGCCTCCTCACCAGCTCACGGGTGTCTTGGTCTGAGGTAGGACACAGCTCTTCACAGCAGGATTCAGTGAATCTTGCACCAGTAGCTGGACAGAGGCCTTCACCACTGGCTGAGCTCTGATGGGATAGGGTGATGGGGTAGGCTTGCCATTGTGGCTCCTCCTGGCCTGGCCTCCTCTTGATGGCACAGGACCTTCCCCATCCCGCCCCTGGAGCCAGTGCTCACCTGTACACAGCCACCTGGTTGGCCCCGTAAGCTCCCACGATCAGGTCTATAGACATCGAGGAATGGGTCAGAATTGGCGATTAGGGCATGGGATCCTCATCTCATCTTCCCAGGGGTTCCCCACACCACCTCCCCCACTGGAGGTTTCACCCAGCCCCTCTGGCAGTCCATAGTGGGACACCAGGCCAGGCATGAGCCCCTGGCCGTGTCTCTTGGCACTTCCAGCGAATGTCCAAGGGCCTTTCTTGGGCATTTCTAGCTGGAGGCAGTCCAGGGCACCTGGGTATCCGTTGTCATCGATGTCTACGGCACCTCGAAGGGAGAAGCCAAAGGCAGAGCCTGTGGGGAAGGGGCTGTCCAGGACCTGGGAGGGACGTGACCTCAGCCCCTCACTCTGACCCAGGAACACCAGCACTTGGCCCCGGCCACTGGGACCCCCGTAGGGGGCAGCCACTGCAATGTCTGGAAGGAGTAACAGAAAGGAAGTGGCTGATTGTTATTCAGCCTCCCTAGATGACTGTAAAACTTTCCTGAGCTTCTCTGGGAACATCCCAGGAGACTAGGAAAGGGGTGCAAAGTGTGGGTGAAGGAGGCACTGCCCTACCCTCCAGGAGTTAACAATCAGGTGGGAGAGGGACCTGCCAAGTAGGATTGTTATAAAAACAGTGACAACTCTCACTGTCTATTGAGGAAAATATATCCTGAAAATTAAGCATCATTATTCCCTTTTCTAAATTTTTTTTTTTTTGAGATGGAGTCTCGCTCTGTTGTCCTGGCTGGAGTGCAGTGGTGCGATCTCGGCTCACTGCAACCTCTGCCTCCCCCGTTAAAGTGATTCTTGTGCCTCAGCCTCTTCAGTAGCTGGGATTACAGGCGCCTACCACCATGCCCGGCTAATTTTTGTATTTTCAGTAGAGACGGGGTTTCACCACATTGGCCAGGCTGATCTCGAACTCCTGACCTCAAGTGATCTGCCCACCTTGGGCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACCGTGCCCAAGCCCCTTTTAAAATTTTTTTATTTTTAAGACAGTCTTGCACTGTCATTCAGGCTGAAGTGCAGTGGTGCAACCATGGCTTACTGCAGCCTCAACCTTCTGGACTAAAGC
ATCTGGTTATTCATGAGCCCCTGGTGGAGACCCGGTACCACGACCCAGCAGCCTCACCTGGGCGTTCTTCTTCATGGGGTTGCCCAGCTCACACAGCACCACCCTGGTCTCATTCTCCTTCTTCTGATTACAGATGAGTCTCTCAAAGCCCTTCAGGAAGGCAGTTCCAAGAAAGAAATTACAGAGCATCATATATATATATTTAAGCTCCCTTGGAAGGTCTGGAAAGATTTGTGTGCCAAGGTAGGGAGGGGGGGGTTTCTTGGGGTGGGGTCTCAAGGGACTGTCACATGCTAGTGTGTGTATTGCTGTAGCACTACTACTTTTTAGGCATTTTCATTTTGGAAATAAAAAACACAAAACATTAGAGTATGACCCCCATTATTATAAACTATATTAACAACATAAAAAATAAATATATACTTATGTGAGTGTGAGTCAATATTGAAAAAAAGACTGGAAGGAAATCCACCAAATGTTAACAGAGGTTCCTGTTAACATTTGGTTCCTAAACCTTTTTTGTTTTTCTGGTTTTTGTAATAGAGTTTTGGAATTCTGTGCCATTAGCAAGTATTCCTCCTCCAAATTAAAAAAAAAATAAAAAATTACATCTTTGACAGCAAAGCAGAAGAGAAGAGGGACTCTCAGGGAGGGAGATGAGAGAGCCAAGGCTCCAGTGCCTCCCAGGTCCCGGGTACTGTTCCCAGGGTGGGGGCCATACCTCGACATTGCTTAGGGCCCGCATGTAGTGGGCGCCCTGGGGCAGGTGCACGGCCAGCTCTGCTTCATAGGCCCCCTCGCCCTCGTTGGCTGCGTCCATCTGCAGCTCCAGGACATTATCTGCCCCAACTAGGAGCGGGGAGCCCGTCCTGTGGGGAAAGAGGAGTGAAGCCAGGGAGCCTGGGTCTGGGCCCAGGATGTGGGAAAAGAGGGGACTAAGGTGTGGAGCAGGTATGATAGGCAGAAAGGGCCAGGGTCGGGCAGAATGGGAGGCCTCCTCACACGCTGGCAGTGAGCTGAAGCTGGGGCACACATACGTCATCTTCCCCACAGTCCAGGACGATTCGTGTCTAGAGGGGCACATTGGGGTGTGCGGGTAAGTTGGGGATGTGTGAGGTTTAGGGATTACATCAGGGTTAGGAAAACAGTGGGCTTGGGGTTCACATAGGGGCTTAGGGAGTAAGAAGATCTGAGGACGAAAAGGAGTTTGTAGATGGTATCGGGGCTCGGGTTTATTTGGAGGTTTGGGACAATGTCAGGGTTTGTCAATTTACATCAGAGCTTAGGGGATACTGGGATTTTCAGGTGTTTATTTTATTTTTGGAGACGGAGTCTCGCTCTGTCGTCCAGGCTGGAGTGCAGTGGCACTATCTCGGCTCACTGCAAGCTCCGCCCCCCGGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGACTACAGGTACCCGCCACCACGCCCAGCTAATTTTTTTTTTTTTTTTGTATTTTTAGTAGACGGGGTTTCACTGTGTTAGCCAGGATGGTCTTGATCTCCTGACCTCGTGATCCACCCGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACTGCGCCTGGCTTTTTTTTTTTTTTTTGAGACAGAGTCTTGCTCTGTCACCCAGGCTGGAGTGCTGTGGCACACTCTTGGCTCACTGCAACCTCTGCCTCCTGGGTTCAAGTGATTCTCCTGCTTCAGCCTCCCGAGTAGCTGGAATTACAGGCATGCGTCACCACACCCGGCTAATTTTTTTTGTATTTTTAGTAGAGATGGGTTTTCACCATGTTGGCCAGGTTGGTCTCTAACTCCTGACCTCAGGCAATCTGCCTGCCTCGGTCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACCATGACTGGCTGGATTTTGAGGTTTTCATTAGGGTTTGGAATGACATCAAGGTTTTGGGGTTCACATTGTGACTTGGCACTAACCCTAATCCTGATTTGCTATCAGGGGTCCTGCACCTCCCTGGCCTGTCCCTGCCTGTCCCTACGTGCTCCTGCACATGGGTGTCTCCATGCAGCACGACAGCAGGGGCCATTCCAGCCTCCGTGGGCGGTAGGGACACATTGAGGCTGAGCACAATGGGGCTCAGCTTGTCCCGGAAGTCTGCCTCATCCTAGGACAGGGGCAAGAGTCAGGCCATCTTGCTACCATACACATCCCACCTTCTCCTGGCCAGTAGGCACCGTGTCCTGACCACCCCCGGACTCACAGCACCCAGCTCAGTGCCCCAGGGCTAGATGAACAAGTCCAGTGGGTAAGTTCTACTCTCCCAGCCCTGCCAATCCCCTGCCTGGGCGTACTCGAAGGAAGGCCATGGTGGTGTGGCAGATGGGGCTGTGCTTTCCGCCCAGATCCAGGTTCAGGGTGGTGCCTGCCTGTTGAGAGCCCAGCAGCAGCACCCGCCGGCCCTGGCGGGGCTTCTGCCGGTCCAGCTGCAGCTCGGCATTTAGGGCTGGCAGGGCAAGCAGAAGAGTCAGGACCTCCCTGGCCAGCCTCCGGGGGAGTCCAAGCCCACCTCCCTCCTGCCCCCTTCATGCCACTCACATAGCTTCTGAGGAATGTTGTGCCCAGTGGCTCCAACACACATCTGGATGTTGAAGCTGCAAAGACGTAAGTGGGGCTCAGGGGTTGGAGCCTTTCTGAGGTCCCAGATCCTTTAAGGCCCATGCCCTCTGCCTCCTCACCAGCTCACGGGTGTCTTGGTCTGAGGTAGGACACAGCTCTTCACAGCAGGATTCAGTGAATCTTGCACCAGTAGCTGGACAGAGGCCTTCACCACTGGCTGAGCTCTGATGGGATAGGGTGATGGGGTAGGCTTGCCATTGTGGCTCCTCCTGGCCTGGCCTCCTCTTGATGGCACAGGACCTTCCCCATCCCGCCCCTGGAGCCAGTGCTCACCTGTACACAGCCACCTGGTTGGCCCCGTAAGCTCCCACGATCAGGTCTATAGACATCGAGGAATGGGTCAGAATTGGCGATTAGGGCATGGGATCCTCATCTCATCTTCCCAGGGGTTCCCCACACCACCTCCCCCACTGGAGGTTTCACCCAGCCCCTCTGGCAGTCCATAGTGGGACACCAGGCCAGGCATGAGCCCCTGGCCGTGTCTCTTGGCACTTCCAGCGAATGTCCAAGGGCCTTTCTTGGGCATTTCTAGCTGGAGGCAGTCCAGGGCACCTGGGTATCCGTTGTCATCGATGTCTACGGCACCTCGAAGGGAGAAGCCAAAGGCAGAGCCTGTGGGGAAGGGGCTGTCCAGGACCTGGGAGGGACGTGACCTCAGCCCCTCACTCTGACCCAGGAACACCAGCACTTGGCCCCGGCCACTGGGACCCCCGTAGGGGGCAGCCACTGCAATGTCTGGAAGGAGTAACAGAAAGGAAGTGGCTGATTGTTATTCAGCCTCCCTAGATGACTGTAAAACTTTCCTGAGCTTCTCTGGGAACATCCCAGGAGACTAGGAAAGGGGTGCAAAGTGTGGGTGAAGGAGGCACTGCCCTACCCTCCAGGAGTTAACAATCAGGTGGGAGAGGGACCTGCCAAGTAGGATTGTTATAAAAACAGTGACAACTCTCACTGTCTATTGAGGAAAATATATCCTGAAAATTAAGCATCATTATTCCCTTTTCTAAATTTTTTTTTTTTTGAGATGGAGTCTCGCTCTGTTGTCCTGGCTGGAGTGCAGTGGTGCGATCTCGGCTCACTGCAACCTCTGCCTCCCCCGTTAAAGTGATTCTTGTGCCTCAGCCTCTTCAGTAGCTGGGATTACAGGCGCCTACCACCATGCCCGGCTAATTTTTGTATTTTCAGTAGAGACGGGGTTTCACCACATTGGCCAGGCTGATCTCGAACTCCTGACCTCAAGTGATCTGCCCACCTTGGGCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACCGTGCCCAAGCCCCTTTTAAAATTTTTTTATTTTTAAGACAGTCTTGCACTGTCATTCAGGCTGAAGTGCAGTGGTGCAACCATGGCTTACTGCAGCCTCAACCTTCTGGACTAAAGC
Task1_train_24726
Assess the clinical impact of this variant on gene ITGA2B (integrin subunit alpha 2b), found on Chromosome 17. State whether it’s pathogenic or benign, and the disease if applicable.
Pathogenic; Glanzmann thrombasthenia
AAATATATACTTATGTGAGTGTGAGTCAATATTGAAAAAAAGACTGGAAGGAAATCCACCAAATGTTAACAGAGGTTCCTGTTAACATTTGGTTCCTAAACCTTTTTTGTTTTTCTGGTTTTTGTAATAGAGTTTTGGAATTCTGTGCCATTAGCAAGTATTCCTCCTCCAAATTAAAAAAAAAATAAAAAATTACATCTTTGACAGCAAAGCAGAAGAGAAGAGGGACTCTCAGGGAGGGAGATGAGAGAGCCAAGGCTCCAGTGCCTCCCAGGTCCCGGGTACTGTTCCCAGGGTGGGGGCCATACCTCGACATTGCTTAGGGCCCGCATGTAGTGGGCGCCCTGGGGCAGGTGCACGGCCAGCTCTGCTTCATAGGCCCCCTCGCCCTCGTTGGCTGCGTCCATCTGCAGCTCCAGGACATTATCTGCCCCAACTAGGAGCGGGGAGCCCGTCCTGTGGGGAAAGAGGAGTGAAGCCAGGGAGCCTGGGTCTGGGCCCAGGATGTGGGAAAAGAGGGGACTAAGGTGTGGAGCAGGTATGATAGGCAGAAAGGGCCAGGGTCGGGCAGAATGGGAGGCCTCCTCACACGCTGGCAGTGAGCTGAAGCTGGGGCACACATACGTCATCTTCCCCACAGTCCAGGACGATTCGTGTCTAGAGGGGCACATTGGGGTGTGCGGGTAAGTTGGGGATGTGTGAGGTTTAGGGATTACATCAGGGTTAGGAAAACAGTGGGCTTGGGGTTCACATAGGGGCTTAGGGAGTAAGAAGATCTGAGGACGAAAAGGAGTTTGTAGATGGTATCGGGGCTCGGGTTTATTTGGAGGTTTGGGACAATGTCAGGGTTTGTCAATTTACATCAGAGCTTAGGGGATACTGGGATTTTCAGGTGTTTATTTTATTTTTGGAGACGGAGTCTCGCTCTGTCGTCCAGGCTGGAGTGCAGTGGCACTATCTCGGCTCACTGCAAGCTCCGCCCCCCGGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGACTACAGGTACCCGCCACCACGCCCAGCTAATTTTTTTTTTTTTTTTGTATTTTTAGTAGACGGGGTTTCACTGTGTTAGCCAGGATGGTCTTGATCTCCTGACCTCGTGATCCACCCGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACTGCGCCTGGCTTTTTTTTTTTTTTTTGAGACAGAGTCTTGCTCTGTCACCCAGGCTGGAGTGCTGTGGCACACTCTTGGCTCACTGCAACCTCTGCCTCCTGGGTTCAAGTGATTCTCCTGCTTCAGCCTCCCGAGTAGCTGGAATTACAGGCATGCGTCACCACACCCGGCTAATTTTTTTTGTATTTTTAGTAGAGATGGGTTTTCACCATGTTGGCCAGGTTGGTCTCTAACTCCTGACCTCAGGCAATCTGCCTGCCTCGGTCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACCATGACTGGCTGGATTTTGAGGTTTTCATTAGGGTTTGGAATGACATCAAGGTTTTGGGGTTCACATTGTGACTTGGCACTAACCCTAATCCTGATTTGCTATCAGGGGTCCTGCACCTCCCTGGCCTGTCCCTGCCTGTCCCTACCTGCTCCTGCACATGGGTGTCTCCATGCAGCACGACAGCAGGGGCCATTCCAGCCTCCGTGGGCGGTAGGGACACATTGAGGCTGAGCACAATGGGGCTCAGCTTGTCCCGGAAGTCTGCCTCATCCTAGGACAGGGGCAAGAGTCAGGCCATCTTGCTACCATACACATCCCACCTTCTCCTGGCCAGTAGGCACCGTGTCCTGACCACCCCCGGACTCACAGCACCCAGCTCAGTGCCCCAGGGCTAGATGAACAAGTCCAGTGGGTAAGTTCTACTCTCCCAGCCCTGCCAATCCCCTGCCTGGGCGTACTCGAAGGAAGGCCATGGTGGTGTGGCAGATGGGGCTGTGCTTTCCGCCCAGATCCAGGTTCAGGGTGGTGCCTGCCTGTTGAGAGCCCAGCAGCAGCACCCGCCGGCCCTGGCGGGGCTTCTGCCGGTCCAGCTGCAGCTCGGCATTTAGGGCTGGCAGGGCAAGCAGAAGAGTCAGGACCTCCCTGGCCAGCCTCCGGGGGAGTCCAAGCCCACCTCCCTCCTGCCCCCTTCATGCCACTCACATAGCTTCTGAGGAATGTTGTGCCCAGTGGCTCCAACACACATCTGGATGTTGAAGCTGCAAAGACGTAAGTGGGGCTCAGGGGTTGGAGCCTTTCTGAGGTCCCAGATCCTTTAAGGCCCATGCCCTCTGCCTCCTCACCAGCTCACGGGTGTCTTGGTCTGAGGTAGGACACAGCTCTTCACAGCAGGATTCAGTGAATCTTGCACCAGTAGCTGGACAGAGGCCTTCACCACTGGCTGAGCTCTGATGGGATAGGGTGATGGGGTAGGCTTGCCATTGTGGCTCCTCCTGGCCTGGCCTCCTCTTGATGGCACAGGACCTTCCCCATCCCGCCCCTGGAGCCAGTGCTCACCTGTACACAGCCACCTGGTTGGCCCCGTAAGCTCCCACGATCAGGTCTATAGACATCGAGGAATGGGTCAGAATTGGCGATTAGGGCATGGGATCCTCATCTCATCTTCCCAGGGGTTCCCCACACCACCTCCCCCACTGGAGGTTTCACCCAGCCCCTCTGGCAGTCCATAGTGGGACACCAGGCCAGGCATGAGCCCCTGGCCGTGTCTCTTGGCACTTCCAGCGAATGTCCAAGGGCCTTTCTTGGGCATTTCTAGCTGGAGGCAGTCCAGGGCACCTGGGTATCCGTTGTCATCGATGTCTACGGCACCTCGAAGGGAGAAGCCAAAGGCAGAGCCTGTGGGGAAGGGGCTGTCCAGGACCTGGGAGGGACGTGACCTCAGCCCCTCACTCTGACCCAGGAACACCAGCACTTGGCCCCGGCCACTGGGACCCCCGTAGGGGGCAGCCACTGCAATGTCTGGAAGGAGTAACAGAAAGGAAGTGGCTGATTGTTATTCAGCCTCCCTAGATGACTGTAAAACTTTCCTGAGCTTCTCTGGGAACATCCCAGGAGACTAGGAAAGGGGTGCAAAGTGTGGGTGAAGGAGGCACTGCCCTACCCTCCAGGAGTTAACAATCAGGTGGGAGAGGGACCTGCCAAGTAGGATTGTTATAAAAACAGTGACAACTCTCACTGTCTATTGAGGAAAATATATCCTGAAAATTAAGCATCATTATTCCCTTTTCTAAATTTTTTTTTTTTTGAGATGGAGTCTCGCTCTGTTGTCCTGGCTGGAGTGCAGTGGTGCGATCTCGGCTCACTGCAACCTCTGCCTCCCCCGTTAAAGTGATTCTTGTGCCTCAGCCTCTTCAGTAGCTGGGATTACAGGCGCCTACCACCATGCCCGGCTAATTTTTGTATTTTCAGTAGAGACGGGGTTTCACCACATTGGCCAGGCTGATCTCGAACTCCTGACCTCAAGTGATCTGCCCACCTTGGGCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACCGTGCCCAAGCCCCTTTTAAAATTTTTTTATTTTTAAGACAGTCTTGCACTGTCATTCAGGCTGAAGTGCAGTGGTGCAACCATGGCTTACTGCAGCCTCAACCTTCTGGACTAAAGCAATCCTCCCACCTCAGCTTCCCAAGCAGTTGAGACTATAGCCACCATGCCCAGCTAATTTTTAAAAATTTTTATGGAGACGAGATCTCCCTATGTTGGCCAGGCTGGTGTCAAACTCCTAGGCTCCAGTGATCCTCCTGCCTCGGCCTCCCAAAGTGCTGGGATTCCAGGTGTGAGCCACCGTGCCTGGCCATCTAGCATCTATTTCTAGCCTTCTCCATTCCATCAAACTCCCAGACCCCCCACACTTCCTTCAGCAGGTGACGTAATCTCTTACTTCAGGAAGAGAGGCAGCCCACTGTTATGCTATAATCCCACACCAACTTTCTTTTCCCTTTCCCCATTTGACCCTGGAAGAGGTTTCCTTCCTTCACCCTGACACTGGGCCAGTCACCCTCCCACCCCCTGAGGCAT
AAATATATACTTATGTGAGTGTGAGTCAATATTGAAAAAAAGACTGGAAGGAAATCCACCAAATGTTAACAGAGGTTCCTGTTAACATTTGGTTCCTAAACCTTTTTTGTTTTTCTGGTTTTTGTAATAGAGTTTTGGAATTCTGTGCCATTAGCAAGTATTCCTCCTCCAAATTAAAAAAAAAATAAAAAATTACATCTTTGACAGCAAAGCAGAAGAGAAGAGGGACTCTCAGGGAGGGAGATGAGAGAGCCAAGGCTCCAGTGCCTCCCAGGTCCCGGGTACTGTTCCCAGGGTGGGGGCCATACCTCGACATTGCTTAGGGCCCGCATGTAGTGGGCGCCCTGGGGCAGGTGCACGGCCAGCTCTGCTTCATAGGCCCCCTCGCCCTCGTTGGCTGCGTCCATCTGCAGCTCCAGGACATTATCTGCCCCAACTAGGAGCGGGGAGCCCGTCCTGTGGGGAAAGAGGAGTGAAGCCAGGGAGCCTGGGTCTGGGCCCAGGATGTGGGAAAAGAGGGGACTAAGGTGTGGAGCAGGTATGATAGGCAGAAAGGGCCAGGGTCGGGCAGAATGGGAGGCCTCCTCACACGCTGGCAGTGAGCTGAAGCTGGGGCACACATACGTCATCTTCCCCACAGTCCAGGACGATTCGTGTCTAGAGGGGCACATTGGGGTGTGCGGGTAAGTTGGGGATGTGTGAGGTTTAGGGATTACATCAGGGTTAGGAAAACAGTGGGCTTGGGGTTCACATAGGGGCTTAGGGAGTAAGAAGATCTGAGGACGAAAAGGAGTTTGTAGATGGTATCGGGGCTCGGGTTTATTTGGAGGTTTGGGACAATGTCAGGGTTTGTCAATTTACATCAGAGCTTAGGGGATACTGGGATTTTCAGGTGTTTATTTTATTTTTGGAGACGGAGTCTCGCTCTGTCGTCCAGGCTGGAGTGCAGTGGCACTATCTCGGCTCACTGCAAGCTCCGCCCCCCGGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGACTACAGGTACCCGCCACCACGCCCAGCTAATTTTTTTTTTTTTTTTGTATTTTTAGTAGACGGGGTTTCACTGTGTTAGCCAGGATGGTCTTGATCTCCTGACCTCGTGATCCACCCGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACTGCGCCTGGCTTTTTTTTTTTTTTTTGAGACAGAGTCTTGCTCTGTCACCCAGGCTGGAGTGCTGTGGCACACTCTTGGCTCACTGCAACCTCTGCCTCCTGGGTTCAAGTGATTCTCCTGCTTCAGCCTCCCGAGTAGCTGGAATTACAGGCATGCGTCACCACACCCGGCTAATTTTTTTTGTATTTTTAGTAGAGATGGGTTTTCACCATGTTGGCCAGGTTGGTCTCTAACTCCTGACCTCAGGCAATCTGCCTGCCTCGGTCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACCATGACTGGCTGGATTTTGAGGTTTTCATTAGGGTTTGGAATGACATCAAGGTTTTGGGGTTCACATTGTGACTTGGCACTAACCCTAATCCTGATTTGCTATCAGGGGTCCTGCACCTCCCTGGCCTGTCCCTGCCTGTCCCTACCTGCTCCTGCACATGGGTGTCTCCATGCAGCACGACAGCAGGGGCCATTCCAGCCTCCGTGGGCGGTAGGGACACATTGAGGCTGAGCACAATGGGGCTCAGCTTGTCCCGGAAGTCTGCCTCATCCTAGGACAGGGGCAAGAGTCAGGCCATCTTGCTACCATACACATCCCACCTTCTCCTGGCCAGTAGGCACCGTGTCCTGACCACCCCCGGACTCACAGCACCCAGCTCAGTGCCCCAGGGCTAGATGAACAAGTCCAGTGGGTAAGTTCTACTCTCCCAGCCCTGCCAATCCCCTGCCTGGGCGTACTCGAAGGAAGGCCATGGTGGTGTGGCAGATGGGGCTGTGCTTTCCGCCCAGATCCAGGTTCAGGGTGGTGCCTGCCTGTTGAGAGCCCAGCAGCAGCACCTGCCGGCCCTGGCGGGGCTTCTGCCGGTCCAGCTGCAGCTCGGCATTTAGGGCTGGCAGGGCAAGCAGAAGAGTCAGGACCTCCCTGGCCAGCCTCCGGGGGAGTCCAAGCCCACCTCCCTCCTGCCCCCTTCATGCCACTCACATAGCTTCTGAGGAATGTTGTGCCCAGTGGCTCCAACACACATCTGGATGTTGAAGCTGCAAAGACGTAAGTGGGGCTCAGGGGTTGGAGCCTTTCTGAGGTCCCAGATCCTTTAAGGCCCATGCCCTCTGCCTCCTCACCAGCTCACGGGTGTCTTGGTCTGAGGTAGGACACAGCTCTTCACAGCAGGATTCAGTGAATCTTGCACCAGTAGCTGGACAGAGGCCTTCACCACTGGCTGAGCTCTGATGGGATAGGGTGATGGGGTAGGCTTGCCATTGTGGCTCCTCCTGGCCTGGCCTCCTCTTGATGGCACAGGACCTTCCCCATCCCGCCCCTGGAGCCAGTGCTCACCTGTACACAGCCACCTGGTTGGCCCCGTAAGCTCCCACGATCAGGTCTATAGACATCGAGGAATGGGTCAGAATTGGCGATTAGGGCATGGGATCCTCATCTCATCTTCCCAGGGGTTCCCCACACCACCTCCCCCACTGGAGGTTTCACCCAGCCCCTCTGGCAGTCCATAGTGGGACACCAGGCCAGGCATGAGCCCCTGGCCGTGTCTCTTGGCACTTCCAGCGAATGTCCAAGGGCCTTTCTTGGGCATTTCTAGCTGGAGGCAGTCCAGGGCACCTGGGTATCCGTTGTCATCGATGTCTACGGCACCTCGAAGGGAGAAGCCAAAGGCAGAGCCTGTGGGGAAGGGGCTGTCCAGGACCTGGGAGGGACGTGACCTCAGCCCCTCACTCTGACCCAGGAACACCAGCACTTGGCCCCGGCCACTGGGACCCCCGTAGGGGGCAGCCACTGCAATGTCTGGAAGGAGTAACAGAAAGGAAGTGGCTGATTGTTATTCAGCCTCCCTAGATGACTGTAAAACTTTCCTGAGCTTCTCTGGGAACATCCCAGGAGACTAGGAAAGGGGTGCAAAGTGTGGGTGAAGGAGGCACTGCCCTACCCTCCAGGAGTTAACAATCAGGTGGGAGAGGGACCTGCCAAGTAGGATTGTTATAAAAACAGTGACAACTCTCACTGTCTATTGAGGAAAATATATCCTGAAAATTAAGCATCATTATTCCCTTTTCTAAATTTTTTTTTTTTTGAGATGGAGTCTCGCTCTGTTGTCCTGGCTGGAGTGCAGTGGTGCGATCTCGGCTCACTGCAACCTCTGCCTCCCCCGTTAAAGTGATTCTTGTGCCTCAGCCTCTTCAGTAGCTGGGATTACAGGCGCCTACCACCATGCCCGGCTAATTTTTGTATTTTCAGTAGAGACGGGGTTTCACCACATTGGCCAGGCTGATCTCGAACTCCTGACCTCAAGTGATCTGCCCACCTTGGGCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACCGTGCCCAAGCCCCTTTTAAAATTTTTTTATTTTTAAGACAGTCTTGCACTGTCATTCAGGCTGAAGTGCAGTGGTGCAACCATGGCTTACTGCAGCCTCAACCTTCTGGACTAAAGCAATCCTCCCACCTCAGCTTCCCAAGCAGTTGAGACTATAGCCACCATGCCCAGCTAATTTTTAAAAATTTTTATGGAGACGAGATCTCCCTATGTTGGCCAGGCTGGTGTCAAACTCCTAGGCTCCAGTGATCCTCCTGCCTCGGCCTCCCAAAGTGCTGGGATTCCAGGTGTGAGCCACCGTGCCTGGCCATCTAGCATCTATTTCTAGCCTTCTCCATTCCATCAAACTCCCAGACCCCCCACACTTCCTTCAGCAGGTGACGTAATCTCTTACTTCAGGAAGAGAGGCAGCCCACTGTTATGCTATAATCCCACACCAACTTTCTTTTCCCTTTCCCCATTTGACCCTGGAAGAGGTTTCCTTCCTTCACCCTGACACTGGGCCAGTCACCCTCCCACCCCCTGAGGCAT
Task1_train_24727
This variant affects the gene ITGA2B (integrin subunit alpha 2b) found on Chromosome 17. What is the clinical effect of this variant — benign or pathogenic? State the disease if applicable.
Pathogenic; Glanzmann thrombasthenia
AATATATACTTATGTGAGTGTGAGTCAATATTGAAAAAAAGACTGGAAGGAAATCCACCAAATGTTAACAGAGGTTCCTGTTAACATTTGGTTCCTAAACCTTTTTTGTTTTTCTGGTTTTTGTAATAGAGTTTTGGAATTCTGTGCCATTAGCAAGTATTCCTCCTCCAAATTAAAAAAAAAATAAAAAATTACATCTTTGACAGCAAAGCAGAAGAGAAGAGGGACTCTCAGGGAGGGAGATGAGAGAGCCAAGGCTCCAGTGCCTCCCAGGTCCCGGGTACTGTTCCCAGGGTGGGGGCCATACCTCGACATTGCTTAGGGCCCGCATGTAGTGGGCGCCCTGGGGCAGGTGCACGGCCAGCTCTGCTTCATAGGCCCCCTCGCCCTCGTTGGCTGCGTCCATCTGCAGCTCCAGGACATTATCTGCCCCAACTAGGAGCGGGGAGCCCGTCCTGTGGGGAAAGAGGAGTGAAGCCAGGGAGCCTGGGTCTGGGCCCAGGATGTGGGAAAAGAGGGGACTAAGGTGTGGAGCAGGTATGATAGGCAGAAAGGGCCAGGGTCGGGCAGAATGGGAGGCCTCCTCACACGCTGGCAGTGAGCTGAAGCTGGGGCACACATACGTCATCTTCCCCACAGTCCAGGACGATTCGTGTCTAGAGGGGCACATTGGGGTGTGCGGGTAAGTTGGGGATGTGTGAGGTTTAGGGATTACATCAGGGTTAGGAAAACAGTGGGCTTGGGGTTCACATAGGGGCTTAGGGAGTAAGAAGATCTGAGGACGAAAAGGAGTTTGTAGATGGTATCGGGGCTCGGGTTTATTTGGAGGTTTGGGACAATGTCAGGGTTTGTCAATTTACATCAGAGCTTAGGGGATACTGGGATTTTCAGGTGTTTATTTTATTTTTGGAGACGGAGTCTCGCTCTGTCGTCCAGGCTGGAGTGCAGTGGCACTATCTCGGCTCACTGCAAGCTCCGCCCCCCGGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGACTACAGGTACCCGCCACCACGCCCAGCTAATTTTTTTTTTTTTTTTGTATTTTTAGTAGACGGGGTTTCACTGTGTTAGCCAGGATGGTCTTGATCTCCTGACCTCGTGATCCACCCGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACTGCGCCTGGCTTTTTTTTTTTTTTTTGAGACAGAGTCTTGCTCTGTCACCCAGGCTGGAGTGCTGTGGCACACTCTTGGCTCACTGCAACCTCTGCCTCCTGGGTTCAAGTGATTCTCCTGCTTCAGCCTCCCGAGTAGCTGGAATTACAGGCATGCGTCACCACACCCGGCTAATTTTTTTTGTATTTTTAGTAGAGATGGGTTTTCACCATGTTGGCCAGGTTGGTCTCTAACTCCTGACCTCAGGCAATCTGCCTGCCTCGGTCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACCATGACTGGCTGGATTTTGAGGTTTTCATTAGGGTTTGGAATGACATCAAGGTTTTGGGGTTCACATTGTGACTTGGCACTAACCCTAATCCTGATTTGCTATCAGGGGTCCTGCACCTCCCTGGCCTGTCCCTGCCTGTCCCTACCTGCTCCTGCACATGGGTGTCTCCATGCAGCACGACAGCAGGGGCCATTCCAGCCTCCGTGGGCGGTAGGGACACATTGAGGCTGAGCACAATGGGGCTCAGCTTGTCCCGGAAGTCTGCCTCATCCTAGGACAGGGGCAAGAGTCAGGCCATCTTGCTACCATACACATCCCACCTTCTCCTGGCCAGTAGGCACCGTGTCCTGACCACCCCCGGACTCACAGCACCCAGCTCAGTGCCCCAGGGCTAGATGAACAAGTCCAGTGGGTAAGTTCTACTCTCCCAGCCCTGCCAATCCCCTGCCTGGGCGTACTCGAAGGAAGGCCATGGTGGTGTGGCAGATGGGGCTGTGCTTTCCGCCCAGATCCAGGTTCAGGGTGGTGCCTGCCTGTTGAGAGCCCAGCAGCAGCACCCGCCGGCCCTGGCGGGGCTTCTGCCGGTCCAGCTGCAGCTCGGCATTTAGGGCTGGCAGGGCAAGCAGAAGAGTCAGGACCTCCCTGGCCAGCCTCCGGGGGAGTCCAAGCCCACCTCCCTCCTGCCCCCTTCATGCCACTCACATAGCTTCTGAGGAATGTTGTGCCCAGTGGCTCCAACACACATCTGGATGTTGAAGCTGCAAAGACGTAAGTGGGGCTCAGGGGTTGGAGCCTTTCTGAGGTCCCAGATCCTTTAAGGCCCATGCCCTCTGCCTCCTCACCAGCTCACGGGTGTCTTGGTCTGAGGTAGGACACAGCTCTTCACAGCAGGATTCAGTGAATCTTGCACCAGTAGCTGGACAGAGGCCTTCACCACTGGCTGAGCTCTGATGGGATAGGGTGATGGGGTAGGCTTGCCATTGTGGCTCCTCCTGGCCTGGCCTCCTCTTGATGGCACAGGACCTTCCCCATCCCGCCCCTGGAGCCAGTGCTCACCTGTACACAGCCACCTGGTTGGCCCCGTAAGCTCCCACGATCAGGTCTATAGACATCGAGGAATGGGTCAGAATTGGCGATTAGGGCATGGGATCCTCATCTCATCTTCCCAGGGGTTCCCCACACCACCTCCCCCACTGGAGGTTTCACCCAGCCCCTCTGGCAGTCCATAGTGGGACACCAGGCCAGGCATGAGCCCCTGGCCGTGTCTCTTGGCACTTCCAGCGAATGTCCAAGGGCCTTTCTTGGGCATTTCTAGCTGGAGGCAGTCCAGGGCACCTGGGTATCCGTTGTCATCGATGTCTACGGCACCTCGAAGGGAGAAGCCAAAGGCAGAGCCTGTGGGGAAGGGGCTGTCCAGGACCTGGGAGGGACGTGACCTCAGCCCCTCACTCTGACCCAGGAACACCAGCACTTGGCCCCGGCCACTGGGACCCCCGTAGGGGGCAGCCACTGCAATGTCTGGAAGGAGTAACAGAAAGGAAGTGGCTGATTGTTATTCAGCCTCCCTAGATGACTGTAAAACTTTCCTGAGCTTCTCTGGGAACATCCCAGGAGACTAGGAAAGGGGTGCAAAGTGTGGGTGAAGGAGGCACTGCCCTACCCTCCAGGAGTTAACAATCAGGTGGGAGAGGGACCTGCCAAGTAGGATTGTTATAAAAACAGTGACAACTCTCACTGTCTATTGAGGAAAATATATCCTGAAAATTAAGCATCATTATTCCCTTTTCTAAATTTTTTTTTTTTTGAGATGGAGTCTCGCTCTGTTGTCCTGGCTGGAGTGCAGTGGTGCGATCTCGGCTCACTGCAACCTCTGCCTCCCCCGTTAAAGTGATTCTTGTGCCTCAGCCTCTTCAGTAGCTGGGATTACAGGCGCCTACCACCATGCCCGGCTAATTTTTGTATTTTCAGTAGAGACGGGGTTTCACCACATTGGCCAGGCTGATCTCGAACTCCTGACCTCAAGTGATCTGCCCACCTTGGGCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACCGTGCCCAAGCCCCTTTTAAAATTTTTTTATTTTTAAGACAGTCTTGCACTGTCATTCAGGCTGAAGTGCAGTGGTGCAACCATGGCTTACTGCAGCCTCAACCTTCTGGACTAAAGCAATCCTCCCACCTCAGCTTCCCAAGCAGTTGAGACTATAGCCACCATGCCCAGCTAATTTTTAAAAATTTTTATGGAGACGAGATCTCCCTATGTTGGCCAGGCTGGTGTCAAACTCCTAGGCTCCAGTGATCCTCCTGCCTCGGCCTCCCAAAGTGCTGGGATTCCAGGTGTGAGCCACCGTGCCTGGCCATCTAGCATCTATTTCTAGCCTTCTCCATTCCATCAAACTCCCAGACCCCCCACACTTCCTTCAGCAGGTGACGTAATCTCTTACTTCAGGAAGAGAGGCAGCCCACTGTTATGCTATAATCCCACACCAACTTTCTTTTCCCTTTCCCCATTTGACCCTGGAAGAGGTTTCCTTCCTTCACCCTGACACTGGGCCAGTCACCCTCCCACCCCCTGAGGCATC
AATATATACTTATGTGAGTGTGAGTCAATATTGAAAAAAAGACTGGAAGGAAATCCACCAAATGTTAACAGAGGTTCCTGTTAACATTTGGTTCCTAAACCTTTTTTGTTTTTCTGGTTTTTGTAATAGAGTTTTGGAATTCTGTGCCATTAGCAAGTATTCCTCCTCCAAATTAAAAAAAAAATAAAAAATTACATCTTTGACAGCAAAGCAGAAGAGAAGAGGGACTCTCAGGGAGGGAGATGAGAGAGCCAAGGCTCCAGTGCCTCCCAGGTCCCGGGTACTGTTCCCAGGGTGGGGGCCATACCTCGACATTGCTTAGGGCCCGCATGTAGTGGGCGCCCTGGGGCAGGTGCACGGCCAGCTCTGCTTCATAGGCCCCCTCGCCCTCGTTGGCTGCGTCCATCTGCAGCTCCAGGACATTATCTGCCCCAACTAGGAGCGGGGAGCCCGTCCTGTGGGGAAAGAGGAGTGAAGCCAGGGAGCCTGGGTCTGGGCCCAGGATGTGGGAAAAGAGGGGACTAAGGTGTGGAGCAGGTATGATAGGCAGAAAGGGCCAGGGTCGGGCAGAATGGGAGGCCTCCTCACACGCTGGCAGTGAGCTGAAGCTGGGGCACACATACGTCATCTTCCCCACAGTCCAGGACGATTCGTGTCTAGAGGGGCACATTGGGGTGTGCGGGTAAGTTGGGGATGTGTGAGGTTTAGGGATTACATCAGGGTTAGGAAAACAGTGGGCTTGGGGTTCACATAGGGGCTTAGGGAGTAAGAAGATCTGAGGACGAAAAGGAGTTTGTAGATGGTATCGGGGCTCGGGTTTATTTGGAGGTTTGGGACAATGTCAGGGTTTGTCAATTTACATCAGAGCTTAGGGGATACTGGGATTTTCAGGTGTTTATTTTATTTTTGGAGACGGAGTCTCGCTCTGTCGTCCAGGCTGGAGTGCAGTGGCACTATCTCGGCTCACTGCAAGCTCCGCCCCCCGGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGACTACAGGTACCCGCCACCACGCCCAGCTAATTTTTTTTTTTTTTTTGTATTTTTAGTAGACGGGGTTTCACTGTGTTAGCCAGGATGGTCTTGATCTCCTGACCTCGTGATCCACCCGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACTGCGCCTGGCTTTTTTTTTTTTTTTTGAGACAGAGTCTTGCTCTGTCACCCAGGCTGGAGTGCTGTGGCACACTCTTGGCTCACTGCAACCTCTGCCTCCTGGGTTCAAGTGATTCTCCTGCTTCAGCCTCCCGAGTAGCTGGAATTACAGGCATGCGTCACCACACCCGGCTAATTTTTTTTGTATTTTTAGTAGAGATGGGTTTTCACCATGTTGGCCAGGTTGGTCTCTAACTCCTGACCTCAGGCAATCTGCCTGCCTCGGTCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACCATGACTGGCTGGATTTTGAGGTTTTCATTAGGGTTTGGAATGACATCAAGGTTTTGGGGTTCACATTGTGACTTGGCACTAACCCTAATCCTGATTTGCTATCAGGGGTCCTGCACCTCCCTGGCCTGTCCCTGCCTGTCCCTACCTGCTCCTGCACATGGGTGTCTCCATGCAGCACGACAGCAGGGGCCATTCCAGCCTCCGTGGGCGGTAGGGACACATTGAGGCTGAGCACAATGGGGCTCAGCTTGTCCCGGAAGTCTGCCTCATCCTAGGACAGGGGCAAGAGTCAGGCCATCTTGCTACCATACACATCCCACCTTCTCCTGGCCAGTAGGCACCGTGTCCTGACCACCCCCGGACTCACAGCACCCAGCTCAGTGCCCCAGGGCTAGATGAACAAGTCCAGTGGGTAAGTTCTACTCTCCCAGCCCTGCCAATCCCCTGCCTGGGCGTACTCGAAGGAAGGCCATGGTGGTGTGGCAGATGGGGCTGTGCTTTCCGCCCAGATCCAGGTTCAGGGTGGTGCCTGCCTGTTGAGAGCCCAGCAGCAGCACCCACCGGCCCTGGCGGGGCTTCTGCCGGTCCAGCTGCAGCTCGGCATTTAGGGCTGGCAGGGCAAGCAGAAGAGTCAGGACCTCCCTGGCCAGCCTCCGGGGGAGTCCAAGCCCACCTCCCTCCTGCCCCCTTCATGCCACTCACATAGCTTCTGAGGAATGTTGTGCCCAGTGGCTCCAACACACATCTGGATGTTGAAGCTGCAAAGACGTAAGTGGGGCTCAGGGGTTGGAGCCTTTCTGAGGTCCCAGATCCTTTAAGGCCCATGCCCTCTGCCTCCTCACCAGCTCACGGGTGTCTTGGTCTGAGGTAGGACACAGCTCTTCACAGCAGGATTCAGTGAATCTTGCACCAGTAGCTGGACAGAGGCCTTCACCACTGGCTGAGCTCTGATGGGATAGGGTGATGGGGTAGGCTTGCCATTGTGGCTCCTCCTGGCCTGGCCTCCTCTTGATGGCACAGGACCTTCCCCATCCCGCCCCTGGAGCCAGTGCTCACCTGTACACAGCCACCTGGTTGGCCCCGTAAGCTCCCACGATCAGGTCTATAGACATCGAGGAATGGGTCAGAATTGGCGATTAGGGCATGGGATCCTCATCTCATCTTCCCAGGGGTTCCCCACACCACCTCCCCCACTGGAGGTTTCACCCAGCCCCTCTGGCAGTCCATAGTGGGACACCAGGCCAGGCATGAGCCCCTGGCCGTGTCTCTTGGCACTTCCAGCGAATGTCCAAGGGCCTTTCTTGGGCATTTCTAGCTGGAGGCAGTCCAGGGCACCTGGGTATCCGTTGTCATCGATGTCTACGGCACCTCGAAGGGAGAAGCCAAAGGCAGAGCCTGTGGGGAAGGGGCTGTCCAGGACCTGGGAGGGACGTGACCTCAGCCCCTCACTCTGACCCAGGAACACCAGCACTTGGCCCCGGCCACTGGGACCCCCGTAGGGGGCAGCCACTGCAATGTCTGGAAGGAGTAACAGAAAGGAAGTGGCTGATTGTTATTCAGCCTCCCTAGATGACTGTAAAACTTTCCTGAGCTTCTCTGGGAACATCCCAGGAGACTAGGAAAGGGGTGCAAAGTGTGGGTGAAGGAGGCACTGCCCTACCCTCCAGGAGTTAACAATCAGGTGGGAGAGGGACCTGCCAAGTAGGATTGTTATAAAAACAGTGACAACTCTCACTGTCTATTGAGGAAAATATATCCTGAAAATTAAGCATCATTATTCCCTTTTCTAAATTTTTTTTTTTTTGAGATGGAGTCTCGCTCTGTTGTCCTGGCTGGAGTGCAGTGGTGCGATCTCGGCTCACTGCAACCTCTGCCTCCCCCGTTAAAGTGATTCTTGTGCCTCAGCCTCTTCAGTAGCTGGGATTACAGGCGCCTACCACCATGCCCGGCTAATTTTTGTATTTTCAGTAGAGACGGGGTTTCACCACATTGGCCAGGCTGATCTCGAACTCCTGACCTCAAGTGATCTGCCCACCTTGGGCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACCGTGCCCAAGCCCCTTTTAAAATTTTTTTATTTTTAAGACAGTCTTGCACTGTCATTCAGGCTGAAGTGCAGTGGTGCAACCATGGCTTACTGCAGCCTCAACCTTCTGGACTAAAGCAATCCTCCCACCTCAGCTTCCCAAGCAGTTGAGACTATAGCCACCATGCCCAGCTAATTTTTAAAAATTTTTATGGAGACGAGATCTCCCTATGTTGGCCAGGCTGGTGTCAAACTCCTAGGCTCCAGTGATCCTCCTGCCTCGGCCTCCCAAAGTGCTGGGATTCCAGGTGTGAGCCACCGTGCCTGGCCATCTAGCATCTATTTCTAGCCTTCTCCATTCCATCAAACTCCCAGACCCCCCACACTTCCTTCAGCAGGTGACGTAATCTCTTACTTCAGGAAGAGAGGCAGCCCACTGTTATGCTATAATCCCACACCAACTTTCTTTTCCCTTTCCCCATTTGACCCTGGAAGAGGTTTCCTTCCTTCACCCTGACACTGGGCCAGTCACCCTCCCACCCCCTGAGGCATC
Task1_train_24728
This sequence variant lies in ITGA2B (integrin subunit alpha 2b) on Chromosome 17. Is it clinically significant, and what condition might it cause if any?
Pathogenic; Glanzmann thrombasthenia
GGCTGGAGTGCAGTGGCACTATCTCGGCTCACTGCAAGCTCCGCCCCCCGGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGACTACAGGTACCCGCCACCACGCCCAGCTAATTTTTTTTTTTTTTTTGTATTTTTAGTAGACGGGGTTTCACTGTGTTAGCCAGGATGGTCTTGATCTCCTGACCTCGTGATCCACCCGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACTGCGCCTGGCTTTTTTTTTTTTTTTTGAGACAGAGTCTTGCTCTGTCACCCAGGCTGGAGTGCTGTGGCACACTCTTGGCTCACTGCAACCTCTGCCTCCTGGGTTCAAGTGATTCTCCTGCTTCAGCCTCCCGAGTAGCTGGAATTACAGGCATGCGTCACCACACCCGGCTAATTTTTTTTGTATTTTTAGTAGAGATGGGTTTTCACCATGTTGGCCAGGTTGGTCTCTAACTCCTGACCTCAGGCAATCTGCCTGCCTCGGTCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACCATGACTGGCTGGATTTTGAGGTTTTCATTAGGGTTTGGAATGACATCAAGGTTTTGGGGTTCACATTGTGACTTGGCACTAACCCTAATCCTGATTTGCTATCAGGGGTCCTGCACCTCCCTGGCCTGTCCCTGCCTGTCCCTACCTGCTCCTGCACATGGGTGTCTCCATGCAGCACGACAGCAGGGGCCATTCCAGCCTCCGTGGGCGGTAGGGACACATTGAGGCTGAGCACAATGGGGCTCAGCTTGTCCCGGAAGTCTGCCTCATCCTAGGACAGGGGCAAGAGTCAGGCCATCTTGCTACCATACACATCCCACCTTCTCCTGGCCAGTAGGCACCGTGTCCTGACCACCCCCGGACTCACAGCACCCAGCTCAGTGCCCCAGGGCTAGATGAACAAGTCCAGTGGGTAAGTTCTACTCTCCCAGCCCTGCCAATCCCCTGCCTGGGCGTACTCGAAGGAAGGCCATGGTGGTGTGGCAGATGGGGCTGTGCTTTCCGCCCAGATCCAGGTTCAGGGTGGTGCCTGCCTGTTGAGAGCCCAGCAGCAGCACCCGCCGGCCCTGGCGGGGCTTCTGCCGGTCCAGCTGCAGCTCGGCATTTAGGGCTGGCAGGGCAAGCAGAAGAGTCAGGACCTCCCTGGCCAGCCTCCGGGGGAGTCCAAGCCCACCTCCCTCCTGCCCCCTTCATGCCACTCACATAGCTTCTGAGGAATGTTGTGCCCAGTGGCTCCAACACACATCTGGATGTTGAAGCTGCAAAGACGTAAGTGGGGCTCAGGGGTTGGAGCCTTTCTGAGGTCCCAGATCCTTTAAGGCCCATGCCCTCTGCCTCCTCACCAGCTCACGGGTGTCTTGGTCTGAGGTAGGACACAGCTCTTCACAGCAGGATTCAGTGAATCTTGCACCAGTAGCTGGACAGAGGCCTTCACCACTGGCTGAGCTCTGATGGGATAGGGTGATGGGGTAGGCTTGCCATTGTGGCTCCTCCTGGCCTGGCCTCCTCTTGATGGCACAGGACCTTCCCCATCCCGCCCCTGGAGCCAGTGCTCACCTGTACACAGCCACCTGGTTGGCCCCGTAAGCTCCCACGATCAGGTCTATAGACATCGAGGAATGGGTCAGAATTGGCGATTAGGGCATGGGATCCTCATCTCATCTTCCCAGGGGTTCCCCACACCACCTCCCCCACTGGAGGTTTCACCCAGCCCCTCTGGCAGTCCATAGTGGGACACCAGGCCAGGCATGAGCCCCTGGCCGTGTCTCTTGGCACTTCCAGCGAATGTCCAAGGGCCTTTCTTGGGCATTTCTAGCTGGAGGCAGTCCAGGGCACCTGGGTATCCGTTGTCATCGATGTCTACGGCACCTCGAAGGGAGAAGCCAAAGGCAGAGCCTGTGGGGAAGGGGCTGTCCAGGACCTGGGAGGGACGTGACCTCAGCCCCTCACTCTGACCCAGGAACACCAGCACTTGGCCCCGGCCACTGGGACCCCCGTAGGGGGCAGCCACTGCAATGTCTGGAAGGAGTAACAGAAAGGAAGTGGCTGATTGTTATTCAGCCTCCCTAGATGACTGTAAAACTTTCCTGAGCTTCTCTGGGAACATCCCAGGAGACTAGGAAAGGGGTGCAAAGTGTGGGTGAAGGAGGCACTGCCCTACCCTCCAGGAGTTAACAATCAGGTGGGAGAGGGACCTGCCAAGTAGGATTGTTATAAAAACAGTGACAACTCTCACTGTCTATTGAGGAAAATATATCCTGAAAATTAAGCATCATTATTCCCTTTTCTAAATTTTTTTTTTTTTGAGATGGAGTCTCGCTCTGTTGTCCTGGCTGGAGTGCAGTGGTGCGATCTCGGCTCACTGCAACCTCTGCCTCCCCCGTTAAAGTGATTCTTGTGCCTCAGCCTCTTCAGTAGCTGGGATTACAGGCGCCTACCACCATGCCCGGCTAATTTTTGTATTTTCAGTAGAGACGGGGTTTCACCACATTGGCCAGGCTGATCTCGAACTCCTGACCTCAAGTGATCTGCCCACCTTGGGCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACCGTGCCCAAGCCCCTTTTAAAATTTTTTTATTTTTAAGACAGTCTTGCACTGTCATTCAGGCTGAAGTGCAGTGGTGCAACCATGGCTTACTGCAGCCTCAACCTTCTGGACTAAAGCAATCCTCCCACCTCAGCTTCCCAAGCAGTTGAGACTATAGCCACCATGCCCAGCTAATTTTTAAAAATTTTTATGGAGACGAGATCTCCCTATGTTGGCCAGGCTGGTGTCAAACTCCTAGGCTCCAGTGATCCTCCTGCCTCGGCCTCCCAAAGTGCTGGGATTCCAGGTGTGAGCCACCGTGCCTGGCCATCTAGCATCTATTTCTAGCCTTCTCCATTCCATCAAACTCCCAGACCCCCCACACTTCCTTCAGCAGGTGACGTAATCTCTTACTTCAGGAAGAGAGGCAGCCCACTGTTATGCTATAATCCCACACCAACTTTCTTTTCCCTTTCCCCATTTGACCCTGGAAGAGGTTTCCTTCCTTCACCCTGACACTGGGCCAGTCACCCTCCCACCCCCTGAGGCATCACAGGGACTCTCTGCTGGCTCATCCCCCCATTTCCCCACAACATCATTTTCAACCTACTACATGTTCTTCCACATTGAAATAATCTTCCCTTGACCCTCATCTCTTTTCTGTGATCACCTTTTCTCTTTTTCCTCTTATAGTCAAACATGTTTTTTTTTTTCCTTTCTATTCCTCAAATTCCTTTTTACCACAAACCTGTTGAAAGAGCTGTCTACATTAGCTGCATCCAATTTTTCATCTCCATTCATACCTTACCCCATTGCATTCTGGCTTCTGACCCTATCTTGGCCTGAATCAATTTATGTCACTGTCACCAATAACCTCCCCTTCTTTTTTCTTTCTTCCTTTCTTTCTCTATTTTTTTTTTTATTTTGTTGAGATGGAGTCTTGCTCTGTCACCCAGGCTGGAGTGCAGTAGTGGCGCAAGCTCAGCTCAGTGCAACCTCCACTTCCCGGGTTCAAGAGATTCTCCTGCTTCAATTTCCCAAGTAGCTGGGATTACAGGTATGAGCCACCATGCCTGGCACCCTCTTCTTGCTAAAGCCCATGAATATTTCTCCAGCCCCACCTAATTGTATCTTGCAGCAGCAGCAGGAGCTGCAGCGCCCACTTCCTCCTGTGCATGCTCTTTAACGCATGCTCTTCCTTGAGTCCCGGGCCATCAGACCCCCTGGGTTCCCTCCTCCCTCTCTGGACACTCCTCTGTCTCCTTCTCAGACTTACCTCCTGTAGGAGTCACCTAAATGCTTTTGCTCCCTAGGGCTCTATCCTGGGCCTCTTATTTCACAGGTCCCGGGACCTCATCCACTTTCCCCAAACCCCTGTCTCCCATTCAGATCTCTCTTGTGGAAGCGGGGAGAGCCACTCCCAACTGTTCTTTGGATATTTCCGCCTAAAGCACCCAAGCCCTTCAAGCTCAACAGGTCCAGAGCTG
GGCTGGAGTGCAGTGGCACTATCTCGGCTCACTGCAAGCTCCGCCCCCCGGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGACTACAGGTACCCGCCACCACGCCCAGCTAATTTTTTTTTTTTTTTTGTATTTTTAGTAGACGGGGTTTCACTGTGTTAGCCAGGATGGTCTTGATCTCCTGACCTCGTGATCCACCCGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACTGCGCCTGGCTTTTTTTTTTTTTTTTGAGACAGAGTCTTGCTCTGTCACCCAGGCTGGAGTGCTGTGGCACACTCTTGGCTCACTGCAACCTCTGCCTCCTGGGTTCAAGTGATTCTCCTGCTTCAGCCTCCCGAGTAGCTGGAATTACAGGCATGCGTCACCACACCCGGCTAATTTTTTTTGTATTTTTAGTAGAGATGGGTTTTCACCATGTTGGCCAGGTTGGTCTCTAACTCCTGACCTCAGGCAATCTGCCTGCCTCGGTCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACCATGACTGGCTGGATTTTGAGGTTTTCATTAGGGTTTGGAATGACATCAAGGTTTTGGGGTTCACATTGTGACTTGGCACTAACCCTAATCCTGATTTGCTATCAGGGGTCCTGCACCTCCCTGGCCTGTCCCTGCCTGTCCCTACCTGCTCCTGCACATGGGTGTCTCCATGCAGCACGACAGCAGGGGCCATTCCAGCCTCCGTGGGCGGTAGGGACACATTGAGGCTGAGCACAATGGGGCTCAGCTTGTCCCGGAAGTCTGCCTCATCCTAGGACAGGGGCAAGAGTCAGGCCATCTTGCTACCATACACATCCCACCTTCTCCTGGCCAGTAGGCACCGTGTCCTGACCACCCCCGGACTCACAGCACCCAGCTCAGTGCCCCAGGGCTAGATGAACAAGTCCAGTGGGTAAGTTCTACTCTCCCAGCCCTGCCAATCCCCTGCCTGGGCGTACTCGAAGGAAGGCCATGGTGGTGTGGCAGATGGGGCTGTGCTTTCCGCCCAGATCCAGGTTCAGGGTGGTGCCTGCCTGTTGAGAGCCCAGCAGCAGCACCCGCCGGCCCTGGCGGGGCTTCTGCCGGTCCAGCTGCAGCTCGGCATTTAGGGCTGGCAGGGCAAGCAGAAGAGTCAGGACCTCCCTGGCCAGCCTCCGGGGGAGTCCAAGCCCACCTCCCTCCTGCCCCCTTCATGCCACTCACATAGCTTCTGAGGAATGTTGTGCCCAGTGGCTCCAACACACATCTGGATGTTGAAGCTGCAAAGACGTAAGTGGGGCTCAGGGGTTGGAGCCTTTCTGAGGTCCCAGATCCTTTAAGGCCCATGCCCTCTGCCTCCTCACCAGCTCACGGGTGTCTTGGTCTGAGGTAGGACACAGCTCTTCACAGCAGGATTCAGTGAATCTTGCACCAGTAGCTGGACAGAGGCCTTCACCACTGGCTGAGCTCTGATGGGATAGGGTGATGGGGTAGGCTTGCCATTGTGGCTCCTCCTGGCCTGGCCTCCTCTTGATGGCACAGGACCTTCCCCATCCCGCCCCTGGAGCCAGTGCTCACCTGTACACAGCCACCTGGTTGGCCCCGTAAGCTCCCACGATCAGGTCTATAGACATCGAGGAATGGGTCAGAATTGGCGATTAGGGCATGGGATCCTCATCTCATCTTCCCAGGGGTTCCCCACACCACCTCCCCCACTGGAGGTTTCACCCAGCCCCTCTGGCAGTCCATAGTGGGACACCAGGCCAGGCATGAGCCCCTGGCCGTGTCTCTTGGCACTTCCAGCGAATGTCCAAGGGCCTTTCTTGGGCATTTCTAGCTGGAGGCAGTCCAGGGCACCTGGGTATCCGTTGTCATCGATGTCTACGGCACCTCGAAGGGAGAAGCCAAAGGCAGAGCCTGTGGGGAAGGGGCTGTCCAGGACCTGGGAGGGACGTGACCTCAGCCCCTCACTCTGACCCAGGAACACCAGCACTTGGCCCCGGCCACTGGGACCCCTGTAGGGGGCAGCCACTGCAATGTCTGGAAGGAGTAACAGAAAGGAAGTGGCTGATTGTTATTCAGCCTCCCTAGATGACTGTAAAACTTTCCTGAGCTTCTCTGGGAACATCCCAGGAGACTAGGAAAGGGGTGCAAAGTGTGGGTGAAGGAGGCACTGCCCTACCCTCCAGGAGTTAACAATCAGGTGGGAGAGGGACCTGCCAAGTAGGATTGTTATAAAAACAGTGACAACTCTCACTGTCTATTGAGGAAAATATATCCTGAAAATTAAGCATCATTATTCCCTTTTCTAAATTTTTTTTTTTTTGAGATGGAGTCTCGCTCTGTTGTCCTGGCTGGAGTGCAGTGGTGCGATCTCGGCTCACTGCAACCTCTGCCTCCCCCGTTAAAGTGATTCTTGTGCCTCAGCCTCTTCAGTAGCTGGGATTACAGGCGCCTACCACCATGCCCGGCTAATTTTTGTATTTTCAGTAGAGACGGGGTTTCACCACATTGGCCAGGCTGATCTCGAACTCCTGACCTCAAGTGATCTGCCCACCTTGGGCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACCGTGCCCAAGCCCCTTTTAAAATTTTTTTATTTTTAAGACAGTCTTGCACTGTCATTCAGGCTGAAGTGCAGTGGTGCAACCATGGCTTACTGCAGCCTCAACCTTCTGGACTAAAGCAATCCTCCCACCTCAGCTTCCCAAGCAGTTGAGACTATAGCCACCATGCCCAGCTAATTTTTAAAAATTTTTATGGAGACGAGATCTCCCTATGTTGGCCAGGCTGGTGTCAAACTCCTAGGCTCCAGTGATCCTCCTGCCTCGGCCTCCCAAAGTGCTGGGATTCCAGGTGTGAGCCACCGTGCCTGGCCATCTAGCATCTATTTCTAGCCTTCTCCATTCCATCAAACTCCCAGACCCCCCACACTTCCTTCAGCAGGTGACGTAATCTCTTACTTCAGGAAGAGAGGCAGCCCACTGTTATGCTATAATCCCACACCAACTTTCTTTTCCCTTTCCCCATTTGACCCTGGAAGAGGTTTCCTTCCTTCACCCTGACACTGGGCCAGTCACCCTCCCACCCCCTGAGGCATCACAGGGACTCTCTGCTGGCTCATCCCCCCATTTCCCCACAACATCATTTTCAACCTACTACATGTTCTTCCACATTGAAATAATCTTCCCTTGACCCTCATCTCTTTTCTGTGATCACCTTTTCTCTTTTTCCTCTTATAGTCAAACATGTTTTTTTTTTTCCTTTCTATTCCTCAAATTCCTTTTTACCACAAACCTGTTGAAAGAGCTGTCTACATTAGCTGCATCCAATTTTTCATCTCCATTCATACCTTACCCCATTGCATTCTGGCTTCTGACCCTATCTTGGCCTGAATCAATTTATGTCACTGTCACCAATAACCTCCCCTTCTTTTTTCTTTCTTCCTTTCTTTCTCTATTTTTTTTTTTATTTTGTTGAGATGGAGTCTTGCTCTGTCACCCAGGCTGGAGTGCAGTAGTGGCGCAAGCTCAGCTCAGTGCAACCTCCACTTCCCGGGTTCAAGAGATTCTCCTGCTTCAATTTCCCAAGTAGCTGGGATTACAGGTATGAGCCACCATGCCTGGCACCCTCTTCTTGCTAAAGCCCATGAATATTTCTCCAGCCCCACCTAATTGTATCTTGCAGCAGCAGCAGGAGCTGCAGCGCCCACTTCCTCCTGTGCATGCTCTTTAACGCATGCTCTTCCTTGAGTCCCGGGCCATCAGACCCCCTGGGTTCCCTCCTCCCTCTCTGGACACTCCTCTGTCTCCTTCTCAGACTTACCTCCTGTAGGAGTCACCTAAATGCTTTTGCTCCCTAGGGCTCTATCCTGGGCCTCTTATTTCACAGGTCCCGGGACCTCATCCACTTTCCCCAAACCCCTGTCTCCCATTCAGATCTCTCTTGTGGAAGCGGGGAGAGCCACTCCCAACTGTTCTTTGGATATTTCCGCCTAAAGCACCCAAGCCCTTCAAGCTCAACAGGTCCAGAGCTG
Task1_train_24729
A sequence alteration has been identified in ITGA2B (integrin subunit alpha 2b) on Chromosome 17. Is it disease-inducing or harmless?
Pathogenic; Glanzmann thrombasthenia 1
GAGTGCAGTGGCACTATCTCGGCTCACTGCAAGCTCCGCCCCCCGGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGACTACAGGTACCCGCCACCACGCCCAGCTAATTTTTTTTTTTTTTTTGTATTTTTAGTAGACGGGGTTTCACTGTGTTAGCCAGGATGGTCTTGATCTCCTGACCTCGTGATCCACCCGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACTGCGCCTGGCTTTTTTTTTTTTTTTTGAGACAGAGTCTTGCTCTGTCACCCAGGCTGGAGTGCTGTGGCACACTCTTGGCTCACTGCAACCTCTGCCTCCTGGGTTCAAGTGATTCTCCTGCTTCAGCCTCCCGAGTAGCTGGAATTACAGGCATGCGTCACCACACCCGGCTAATTTTTTTTGTATTTTTAGTAGAGATGGGTTTTCACCATGTTGGCCAGGTTGGTCTCTAACTCCTGACCTCAGGCAATCTGCCTGCCTCGGTCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACCATGACTGGCTGGATTTTGAGGTTTTCATTAGGGTTTGGAATGACATCAAGGTTTTGGGGTTCACATTGTGACTTGGCACTAACCCTAATCCTGATTTGCTATCAGGGGTCCTGCACCTCCCTGGCCTGTCCCTGCCTGTCCCTACCTGCTCCTGCACATGGGTGTCTCCATGCAGCACGACAGCAGGGGCCATTCCAGCCTCCGTGGGCGGTAGGGACACATTGAGGCTGAGCACAATGGGGCTCAGCTTGTCCCGGAAGTCTGCCTCATCCTAGGACAGGGGCAAGAGTCAGGCCATCTTGCTACCATACACATCCCACCTTCTCCTGGCCAGTAGGCACCGTGTCCTGACCACCCCCGGACTCACAGCACCCAGCTCAGTGCCCCAGGGCTAGATGAACAAGTCCAGTGGGTAAGTTCTACTCTCCCAGCCCTGCCAATCCCCTGCCTGGGCGTACTCGAAGGAAGGCCATGGTGGTGTGGCAGATGGGGCTGTGCTTTCCGCCCAGATCCAGGTTCAGGGTGGTGCCTGCCTGTTGAGAGCCCAGCAGCAGCACCCGCCGGCCCTGGCGGGGCTTCTGCCGGTCCAGCTGCAGCTCGGCATTTAGGGCTGGCAGGGCAAGCAGAAGAGTCAGGACCTCCCTGGCCAGCCTCCGGGGGAGTCCAAGCCCACCTCCCTCCTGCCCCCTTCATGCCACTCACATAGCTTCTGAGGAATGTTGTGCCCAGTGGCTCCAACACACATCTGGATGTTGAAGCTGCAAAGACGTAAGTGGGGCTCAGGGGTTGGAGCCTTTCTGAGGTCCCAGATCCTTTAAGGCCCATGCCCTCTGCCTCCTCACCAGCTCACGGGTGTCTTGGTCTGAGGTAGGACACAGCTCTTCACAGCAGGATTCAGTGAATCTTGCACCAGTAGCTGGACAGAGGCCTTCACCACTGGCTGAGCTCTGATGGGATAGGGTGATGGGGTAGGCTTGCCATTGTGGCTCCTCCTGGCCTGGCCTCCTCTTGATGGCACAGGACCTTCCCCATCCCGCCCCTGGAGCCAGTGCTCACCTGTACACAGCCACCTGGTTGGCCCCGTAAGCTCCCACGATCAGGTCTATAGACATCGAGGAATGGGTCAGAATTGGCGATTAGGGCATGGGATCCTCATCTCATCTTCCCAGGGGTTCCCCACACCACCTCCCCCACTGGAGGTTTCACCCAGCCCCTCTGGCAGTCCATAGTGGGACACCAGGCCAGGCATGAGCCCCTGGCCGTGTCTCTTGGCACTTCCAGCGAATGTCCAAGGGCCTTTCTTGGGCATTTCTAGCTGGAGGCAGTCCAGGGCACCTGGGTATCCGTTGTCATCGATGTCTACGGCACCTCGAAGGGAGAAGCCAAAGGCAGAGCCTGTGGGGAAGGGGCTGTCCAGGACCTGGGAGGGACGTGACCTCAGCCCCTCACTCTGACCCAGGAACACCAGCACTTGGCCCCGGCCACTGGGACCCCCGTAGGGGGCAGCCACTGCAATGTCTGGAAGGAGTAACAGAAAGGAAGTGGCTGATTGTTATTCAGCCTCCCTAGATGACTGTAAAACTTTCCTGAGCTTCTCTGGGAACATCCCAGGAGACTAGGAAAGGGGTGCAAAGTGTGGGTGAAGGAGGCACTGCCCTACCCTCCAGGAGTTAACAATCAGGTGGGAGAGGGACCTGCCAAGTAGGATTGTTATAAAAACAGTGACAACTCTCACTGTCTATTGAGGAAAATATATCCTGAAAATTAAGCATCATTATTCCCTTTTCTAAATTTTTTTTTTTTTGAGATGGAGTCTCGCTCTGTTGTCCTGGCTGGAGTGCAGTGGTGCGATCTCGGCTCACTGCAACCTCTGCCTCCCCCGTTAAAGTGATTCTTGTGCCTCAGCCTCTTCAGTAGCTGGGATTACAGGCGCCTACCACCATGCCCGGCTAATTTTTGTATTTTCAGTAGAGACGGGGTTTCACCACATTGGCCAGGCTGATCTCGAACTCCTGACCTCAAGTGATCTGCCCACCTTGGGCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACCGTGCCCAAGCCCCTTTTAAAATTTTTTTATTTTTAAGACAGTCTTGCACTGTCATTCAGGCTGAAGTGCAGTGGTGCAACCATGGCTTACTGCAGCCTCAACCTTCTGGACTAAAGCAATCCTCCCACCTCAGCTTCCCAAGCAGTTGAGACTATAGCCACCATGCCCAGCTAATTTTTAAAAATTTTTATGGAGACGAGATCTCCCTATGTTGGCCAGGCTGGTGTCAAACTCCTAGGCTCCAGTGATCCTCCTGCCTCGGCCTCCCAAAGTGCTGGGATTCCAGGTGTGAGCCACCGTGCCTGGCCATCTAGCATCTATTTCTAGCCTTCTCCATTCCATCAAACTCCCAGACCCCCCACACTTCCTTCAGCAGGTGACGTAATCTCTTACTTCAGGAAGAGAGGCAGCCCACTGTTATGCTATAATCCCACACCAACTTTCTTTTCCCTTTCCCCATTTGACCCTGGAAGAGGTTTCCTTCCTTCACCCTGACACTGGGCCAGTCACCCTCCCACCCCCTGAGGCATCACAGGGACTCTCTGCTGGCTCATCCCCCCATTTCCCCACAACATCATTTTCAACCTACTACATGTTCTTCCACATTGAAATAATCTTCCCTTGACCCTCATCTCTTTTCTGTGATCACCTTTTCTCTTTTTCCTCTTATAGTCAAACATGTTTTTTTTTTTCCTTTCTATTCCTCAAATTCCTTTTTACCACAAACCTGTTGAAAGAGCTGTCTACATTAGCTGCATCCAATTTTTCATCTCCATTCATACCTTACCCCATTGCATTCTGGCTTCTGACCCTATCTTGGCCTGAATCAATTTATGTCACTGTCACCAATAACCTCCCCTTCTTTTTTCTTTCTTCCTTTCTTTCTCTATTTTTTTTTTTATTTTGTTGAGATGGAGTCTTGCTCTGTCACCCAGGCTGGAGTGCAGTAGTGGCGCAAGCTCAGCTCAGTGCAACCTCCACTTCCCGGGTTCAAGAGATTCTCCTGCTTCAATTTCCCAAGTAGCTGGGATTACAGGTATGAGCCACCATGCCTGGCACCCTCTTCTTGCTAAAGCCCATGAATATTTCTCCAGCCCCACCTAATTGTATCTTGCAGCAGCAGCAGGAGCTGCAGCGCCCACTTCCTCCTGTGCATGCTCTTTAACGCATGCTCTTCCTTGAGTCCCGGGCCATCAGACCCCCTGGGTTCCCTCCTCCCTCTCTGGACACTCCTCTGTCTCCTTCTCAGACTTACCTCCTGTAGGAGTCACCTAAATGCTTTTGCTCCCTAGGGCTCTATCCTGGGCCTCTTATTTCACAGGTCCCGGGACCTCATCCACTTTCCCCAAACCCCTGTCTCCCATTCAGATCTCTCTTGTGGAAGCGGGGAGAGCCACTCCCAACTGTTCTTTGGATATTTCCGCCTAAAGCACCCAAGCCCTTCAAGCTCAACAGGTCCAGAGCTGAACTG
GAGTGCAGTGGCACTATCTCGGCTCACTGCAAGCTCCGCCCCCCGGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGACTACAGGTACCCGCCACCACGCCCAGCTAATTTTTTTTTTTTTTTTGTATTTTTAGTAGACGGGGTTTCACTGTGTTAGCCAGGATGGTCTTGATCTCCTGACCTCGTGATCCACCCGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACTGCGCCTGGCTTTTTTTTTTTTTTTTGAGACAGAGTCTTGCTCTGTCACCCAGGCTGGAGTGCTGTGGCACACTCTTGGCTCACTGCAACCTCTGCCTCCTGGGTTCAAGTGATTCTCCTGCTTCAGCCTCCCGAGTAGCTGGAATTACAGGCATGCGTCACCACACCCGGCTAATTTTTTTTGTATTTTTAGTAGAGATGGGTTTTCACCATGTTGGCCAGGTTGGTCTCTAACTCCTGACCTCAGGCAATCTGCCTGCCTCGGTCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACCATGACTGGCTGGATTTTGAGGTTTTCATTAGGGTTTGGAATGACATCAAGGTTTTGGGGTTCACATTGTGACTTGGCACTAACCCTAATCCTGATTTGCTATCAGGGGTCCTGCACCTCCCTGGCCTGTCCCTGCCTGTCCCTACCTGCTCCTGCACATGGGTGTCTCCATGCAGCACGACAGCAGGGGCCATTCCAGCCTCCGTGGGCGGTAGGGACACATTGAGGCTGAGCACAATGGGGCTCAGCTTGTCCCGGAAGTCTGCCTCATCCTAGGACAGGGGCAAGAGTCAGGCCATCTTGCTACCATACACATCCCACCTTCTCCTGGCCAGTAGGCACCGTGTCCTGACCACCCCCGGACTCACAGCACCCAGCTCAGTGCCCCAGGGCTAGATGAACAAGTCCAGTGGGTAAGTTCTACTCTCCCAGCCCTGCCAATCCCCTGCCTGGGCGTACTCGAAGGAAGGCCATGGTGGTGTGGCAGATGGGGCTGTGCTTTCCGCCCAGATCCAGGTTCAGGGTGGTGCCTGCCTGTTGAGAGCCCAGCAGCAGCACCCGCCGGCCCTGGCGGGGCTTCTGCCGGTCCAGCTGCAGCTCGGCATTTAGGGCTGGCAGGGCAAGCAGAAGAGTCAGGACCTCCCTGGCCAGCCTCCGGGGGAGTCCAAGCCCACCTCCCTCCTGCCCCCTTCATGCCACTCACATAGCTTCTGAGGAATGTTGTGCCCAGTGGCTCCAACACACATCTGGATGTTGAAGCTGCAAAGACGTAAGTGGGGCTCAGGGGTTGGAGCCTTTCTGAGGTCCCAGATCCTTTAAGGCCCATGCCCTCTGCCTCCTCACCAGCTCACGGGTGTCTTGGTCTGAGGTAGGACACAGCTCTTCACAGCAGGATTCAGTGAATCTTGCACCAGTAGCTGGACAGAGGCCTTCACCACTGGCTGAGCTCTGATGGGATAGGGTGATGGGGTAGGCTTGCCATTGTGGCTCCTCCTGGCCTGGCCTCCTCTTGATGGCACAGGACCTTCCCCATCCCGCCCCTGGAGCCAGTGCTCACCTGTACACAGCCACCTGGTTGGCCCCGTAAGCTCCCACGATCAGGTCTATAGACATCGAGGAATGGGTCAGAATTGGCGATTAGGGCATGGGATCCTCATCTCATCTTCCCAGGGGTTCCCCACACCACCTCCCCCACTGGAGGTTTCACCCAGCCCCTCTGGCAGTCCATAGTGGGACACCAGGCCAGGCATGAGCCCCTGGCCGTGTCTCTTGGCACTTCCAGCGAATGTCCAAGGGCCTTTCTTGGGCATTTCTAGCTGGAGGCAGTCCAGGGCACCTGGGTATCCGTTGTCATCGATGTCTACGGCACCTCGAAGGGAGAAGCCAAAGGCAGAGCCTGTGGGGAAGGGGCTGTCCAGGACCTGGGAGGGACGTGACCTCAGCCCCTCACTCTGACCCAGGAACACCAGCACTTGGCCCCGGCCACTGGGACCCCCGTAGTGGGCAGCCACTGCAATGTCTGGAAGGAGTAACAGAAAGGAAGTGGCTGATTGTTATTCAGCCTCCCTAGATGACTGTAAAACTTTCCTGAGCTTCTCTGGGAACATCCCAGGAGACTAGGAAAGGGGTGCAAAGTGTGGGTGAAGGAGGCACTGCCCTACCCTCCAGGAGTTAACAATCAGGTGGGAGAGGGACCTGCCAAGTAGGATTGTTATAAAAACAGTGACAACTCTCACTGTCTATTGAGGAAAATATATCCTGAAAATTAAGCATCATTATTCCCTTTTCTAAATTTTTTTTTTTTTGAGATGGAGTCTCGCTCTGTTGTCCTGGCTGGAGTGCAGTGGTGCGATCTCGGCTCACTGCAACCTCTGCCTCCCCCGTTAAAGTGATTCTTGTGCCTCAGCCTCTTCAGTAGCTGGGATTACAGGCGCCTACCACCATGCCCGGCTAATTTTTGTATTTTCAGTAGAGACGGGGTTTCACCACATTGGCCAGGCTGATCTCGAACTCCTGACCTCAAGTGATCTGCCCACCTTGGGCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACCGTGCCCAAGCCCCTTTTAAAATTTTTTTATTTTTAAGACAGTCTTGCACTGTCATTCAGGCTGAAGTGCAGTGGTGCAACCATGGCTTACTGCAGCCTCAACCTTCTGGACTAAAGCAATCCTCCCACCTCAGCTTCCCAAGCAGTTGAGACTATAGCCACCATGCCCAGCTAATTTTTAAAAATTTTTATGGAGACGAGATCTCCCTATGTTGGCCAGGCTGGTGTCAAACTCCTAGGCTCCAGTGATCCTCCTGCCTCGGCCTCCCAAAGTGCTGGGATTCCAGGTGTGAGCCACCGTGCCTGGCCATCTAGCATCTATTTCTAGCCTTCTCCATTCCATCAAACTCCCAGACCCCCCACACTTCCTTCAGCAGGTGACGTAATCTCTTACTTCAGGAAGAGAGGCAGCCCACTGTTATGCTATAATCCCACACCAACTTTCTTTTCCCTTTCCCCATTTGACCCTGGAAGAGGTTTCCTTCCTTCACCCTGACACTGGGCCAGTCACCCTCCCACCCCCTGAGGCATCACAGGGACTCTCTGCTGGCTCATCCCCCCATTTCCCCACAACATCATTTTCAACCTACTACATGTTCTTCCACATTGAAATAATCTTCCCTTGACCCTCATCTCTTTTCTGTGATCACCTTTTCTCTTTTTCCTCTTATAGTCAAACATGTTTTTTTTTTTCCTTTCTATTCCTCAAATTCCTTTTTACCACAAACCTGTTGAAAGAGCTGTCTACATTAGCTGCATCCAATTTTTCATCTCCATTCATACCTTACCCCATTGCATTCTGGCTTCTGACCCTATCTTGGCCTGAATCAATTTATGTCACTGTCACCAATAACCTCCCCTTCTTTTTTCTTTCTTCCTTTCTTTCTCTATTTTTTTTTTTATTTTGTTGAGATGGAGTCTTGCTCTGTCACCCAGGCTGGAGTGCAGTAGTGGCGCAAGCTCAGCTCAGTGCAACCTCCACTTCCCGGGTTCAAGAGATTCTCCTGCTTCAATTTCCCAAGTAGCTGGGATTACAGGTATGAGCCACCATGCCTGGCACCCTCTTCTTGCTAAAGCCCATGAATATTTCTCCAGCCCCACCTAATTGTATCTTGCAGCAGCAGCAGGAGCTGCAGCGCCCACTTCCTCCTGTGCATGCTCTTTAACGCATGCTCTTCCTTGAGTCCCGGGCCATCAGACCCCCTGGGTTCCCTCCTCCCTCTCTGGACACTCCTCTGTCTCCTTCTCAGACTTACCTCCTGTAGGAGTCACCTAAATGCTTTTGCTCCCTAGGGCTCTATCCTGGGCCTCTTATTTCACAGGTCCCGGGACCTCATCCACTTTCCCCAAACCCCTGTCTCCCATTCAGATCTCTCTTGTGGAAGCGGGGAGAGCCACTCCCAACTGTTCTTTGGATATTTCCGCCTAAAGCACCCAAGCCCTTCAAGCTCAACAGGTCCAGAGCTGAACTG
Task1_train_24730
Gene ITGA2B (integrin subunit alpha 2b), found on Chromosome 17, is impacted by this variant. What is the biological outcome — benign or pathogenic?
Pathogenic; Glanzmann thrombasthenia
ATCTCGGCTCACTGCAAGCTCCGCCCCCCGGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGACTACAGGTACCCGCCACCACGCCCAGCTAATTTTTTTTTTTTTTTTGTATTTTTAGTAGACGGGGTTTCACTGTGTTAGCCAGGATGGTCTTGATCTCCTGACCTCGTGATCCACCCGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACTGCGCCTGGCTTTTTTTTTTTTTTTTGAGACAGAGTCTTGCTCTGTCACCCAGGCTGGAGTGCTGTGGCACACTCTTGGCTCACTGCAACCTCTGCCTCCTGGGTTCAAGTGATTCTCCTGCTTCAGCCTCCCGAGTAGCTGGAATTACAGGCATGCGTCACCACACCCGGCTAATTTTTTTTGTATTTTTAGTAGAGATGGGTTTTCACCATGTTGGCCAGGTTGGTCTCTAACTCCTGACCTCAGGCAATCTGCCTGCCTCGGTCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACCATGACTGGCTGGATTTTGAGGTTTTCATTAGGGTTTGGAATGACATCAAGGTTTTGGGGTTCACATTGTGACTTGGCACTAACCCTAATCCTGATTTGCTATCAGGGGTCCTGCACCTCCCTGGCCTGTCCCTGCCTGTCCCTACCTGCTCCTGCACATGGGTGTCTCCATGCAGCACGACAGCAGGGGCCATTCCAGCCTCCGTGGGCGGTAGGGACACATTGAGGCTGAGCACAATGGGGCTCAGCTTGTCCCGGAAGTCTGCCTCATCCTAGGACAGGGGCAAGAGTCAGGCCATCTTGCTACCATACACATCCCACCTTCTCCTGGCCAGTAGGCACCGTGTCCTGACCACCCCCGGACTCACAGCACCCAGCTCAGTGCCCCAGGGCTAGATGAACAAGTCCAGTGGGTAAGTTCTACTCTCCCAGCCCTGCCAATCCCCTGCCTGGGCGTACTCGAAGGAAGGCCATGGTGGTGTGGCAGATGGGGCTGTGCTTTCCGCCCAGATCCAGGTTCAGGGTGGTGCCTGCCTGTTGAGAGCCCAGCAGCAGCACCCGCCGGCCCTGGCGGGGCTTCTGCCGGTCCAGCTGCAGCTCGGCATTTAGGGCTGGCAGGGCAAGCAGAAGAGTCAGGACCTCCCTGGCCAGCCTCCGGGGGAGTCCAAGCCCACCTCCCTCCTGCCCCCTTCATGCCACTCACATAGCTTCTGAGGAATGTTGTGCCCAGTGGCTCCAACACACATCTGGATGTTGAAGCTGCAAAGACGTAAGTGGGGCTCAGGGGTTGGAGCCTTTCTGAGGTCCCAGATCCTTTAAGGCCCATGCCCTCTGCCTCCTCACCAGCTCACGGGTGTCTTGGTCTGAGGTAGGACACAGCTCTTCACAGCAGGATTCAGTGAATCTTGCACCAGTAGCTGGACAGAGGCCTTCACCACTGGCTGAGCTCTGATGGGATAGGGTGATGGGGTAGGCTTGCCATTGTGGCTCCTCCTGGCCTGGCCTCCTCTTGATGGCACAGGACCTTCCCCATCCCGCCCCTGGAGCCAGTGCTCACCTGTACACAGCCACCTGGTTGGCCCCGTAAGCTCCCACGATCAGGTCTATAGACATCGAGGAATGGGTCAGAATTGGCGATTAGGGCATGGGATCCTCATCTCATCTTCCCAGGGGTTCCCCACACCACCTCCCCCACTGGAGGTTTCACCCAGCCCCTCTGGCAGTCCATAGTGGGACACCAGGCCAGGCATGAGCCCCTGGCCGTGTCTCTTGGCACTTCCAGCGAATGTCCAAGGGCCTTTCTTGGGCATTTCTAGCTGGAGGCAGTCCAGGGCACCTGGGTATCCGTTGTCATCGATGTCTACGGCACCTCGAAGGGAGAAGCCAAAGGCAGAGCCTGTGGGGAAGGGGCTGTCCAGGACCTGGGAGGGACGTGACCTCAGCCCCTCACTCTGACCCAGGAACACCAGCACTTGGCCCCGGCCACTGGGACCCCCGTAGGGGGCAGCCACTGCAATGTCTGGAAGGAGTAACAGAAAGGAAGTGGCTGATTGTTATTCAGCCTCCCTAGATGACTGTAAAACTTTCCTGAGCTTCTCTGGGAACATCCCAGGAGACTAGGAAAGGGGTGCAAAGTGTGGGTGAAGGAGGCACTGCCCTACCCTCCAGGAGTTAACAATCAGGTGGGAGAGGGACCTGCCAAGTAGGATTGTTATAAAAACAGTGACAACTCTCACTGTCTATTGAGGAAAATATATCCTGAAAATTAAGCATCATTATTCCCTTTTCTAAATTTTTTTTTTTTTGAGATGGAGTCTCGCTCTGTTGTCCTGGCTGGAGTGCAGTGGTGCGATCTCGGCTCACTGCAACCTCTGCCTCCCCCGTTAAAGTGATTCTTGTGCCTCAGCCTCTTCAGTAGCTGGGATTACAGGCGCCTACCACCATGCCCGGCTAATTTTTGTATTTTCAGTAGAGACGGGGTTTCACCACATTGGCCAGGCTGATCTCGAACTCCTGACCTCAAGTGATCTGCCCACCTTGGGCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACCGTGCCCAAGCCCCTTTTAAAATTTTTTTATTTTTAAGACAGTCTTGCACTGTCATTCAGGCTGAAGTGCAGTGGTGCAACCATGGCTTACTGCAGCCTCAACCTTCTGGACTAAAGCAATCCTCCCACCTCAGCTTCCCAAGCAGTTGAGACTATAGCCACCATGCCCAGCTAATTTTTAAAAATTTTTATGGAGACGAGATCTCCCTATGTTGGCCAGGCTGGTGTCAAACTCCTAGGCTCCAGTGATCCTCCTGCCTCGGCCTCCCAAAGTGCTGGGATTCCAGGTGTGAGCCACCGTGCCTGGCCATCTAGCATCTATTTCTAGCCTTCTCCATTCCATCAAACTCCCAGACCCCCCACACTTCCTTCAGCAGGTGACGTAATCTCTTACTTCAGGAAGAGAGGCAGCCCACTGTTATGCTATAATCCCACACCAACTTTCTTTTCCCTTTCCCCATTTGACCCTGGAAGAGGTTTCCTTCCTTCACCCTGACACTGGGCCAGTCACCCTCCCACCCCCTGAGGCATCACAGGGACTCTCTGCTGGCTCATCCCCCCATTTCCCCACAACATCATTTTCAACCTACTACATGTTCTTCCACATTGAAATAATCTTCCCTTGACCCTCATCTCTTTTCTGTGATCACCTTTTCTCTTTTTCCTCTTATAGTCAAACATGTTTTTTTTTTTCCTTTCTATTCCTCAAATTCCTTTTTACCACAAACCTGTTGAAAGAGCTGTCTACATTAGCTGCATCCAATTTTTCATCTCCATTCATACCTTACCCCATTGCATTCTGGCTTCTGACCCTATCTTGGCCTGAATCAATTTATGTCACTGTCACCAATAACCTCCCCTTCTTTTTTCTTTCTTCCTTTCTTTCTCTATTTTTTTTTTTATTTTGTTGAGATGGAGTCTTGCTCTGTCACCCAGGCTGGAGTGCAGTAGTGGCGCAAGCTCAGCTCAGTGCAACCTCCACTTCCCGGGTTCAAGAGATTCTCCTGCTTCAATTTCCCAAGTAGCTGGGATTACAGGTATGAGCCACCATGCCTGGCACCCTCTTCTTGCTAAAGCCCATGAATATTTCTCCAGCCCCACCTAATTGTATCTTGCAGCAGCAGCAGGAGCTGCAGCGCCCACTTCCTCCTGTGCATGCTCTTTAACGCATGCTCTTCCTTGAGTCCCGGGCCATCAGACCCCCTGGGTTCCCTCCTCCCTCTCTGGACACTCCTCTGTCTCCTTCTCAGACTTACCTCCTGTAGGAGTCACCTAAATGCTTTTGCTCCCTAGGGCTCTATCCTGGGCCTCTTATTTCACAGGTCCCGGGACCTCATCCACTTTCCCCAAACCCCTGTCTCCCATTCAGATCTCTCTTGTGGAAGCGGGGAGAGCCACTCCCAACTGTTCTTTGGATATTTCCGCCTAAAGCACCCAAGCCCTTCAAGCTCAACAGGTCCAGAGCTGAACTGCTGATCTCCCGCCTC
ATCTCGGCTCACTGCAAGCTCCGCCCCCCGGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGACTACAGGTACCCGCCACCACGCCCAGCTAATTTTTTTTTTTTTTTTGTATTTTTAGTAGACGGGGTTTCACTGTGTTAGCCAGGATGGTCTTGATCTCCTGACCTCGTGATCCACCCGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACTGCGCCTGGCTTTTTTTTTTTTTTTTGAGACAGAGTCTTGCTCTGTCACCCAGGCTGGAGTGCTGTGGCACACTCTTGGCTCACTGCAACCTCTGCCTCCTGGGTTCAAGTGATTCTCCTGCTTCAGCCTCCCGAGTAGCTGGAATTACAGGCATGCGTCACCACACCCGGCTAATTTTTTTTGTATTTTTAGTAGAGATGGGTTTTCACCATGTTGGCCAGGTTGGTCTCTAACTCCTGACCTCAGGCAATCTGCCTGCCTCGGTCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACCATGACTGGCTGGATTTTGAGGTTTTCATTAGGGTTTGGAATGACATCAAGGTTTTGGGGTTCACATTGTGACTTGGCACTAACCCTAATCCTGATTTGCTATCAGGGGTCCTGCACCTCCCTGGCCTGTCCCTGCCTGTCCCTACCTGCTCCTGCACATGGGTGTCTCCATGCAGCACGACAGCAGGGGCCATTCCAGCCTCCGTGGGCGGTAGGGACACATTGAGGCTGAGCACAATGGGGCTCAGCTTGTCCCGGAAGTCTGCCTCATCCTAGGACAGGGGCAAGAGTCAGGCCATCTTGCTACCATACACATCCCACCTTCTCCTGGCCAGTAGGCACCGTGTCCTGACCACCCCCGGACTCACAGCACCCAGCTCAGTGCCCCAGGGCTAGATGAACAAGTCCAGTGGGTAAGTTCTACTCTCCCAGCCCTGCCAATCCCCTGCCTGGGCGTACTCGAAGGAAGGCCATGGTGGTGTGGCAGATGGGGCTGTGCTTTCCGCCCAGATCCAGGTTCAGGGTGGTGCCTGCCTGTTGAGAGCCCAGCAGCAGCACCCGCCGGCCCTGGCGGGGCTTCTGCCGGTCCAGCTGCAGCTCGGCATTTAGGGCTGGCAGGGCAAGCAGAAGAGTCAGGACCTCCCTGGCCAGCCTCCGGGGGAGTCCAAGCCCACCTCCCTCCTGCCCCCTTCATGCCACTCACATAGCTTCTGAGGAATGTTGTGCCCAGTGGCTCCAACACACATCTGGATGTTGAAGCTGCAAAGACGTAAGTGGGGCTCAGGGGTTGGAGCCTTTCTGAGGTCCCAGATCCTTTAAGGCCCATGCCCTCTGCCTCCTCACCAGCTCACGGGTGTCTTGGTCTGAGGTAGGACACAGCTCTTCACAGCAGGATTCAGTGAATCTTGCACCAGTAGCTGGACAGAGGCCTTCACCACTGGCTGAGCTCTGATGGGATAGGGTGATGGGGTAGGCTTGCCATTGTGGCTCCTCCTGGCCTGGCCTCCTCTTGATGGCACAGGACCTTCCCCATCCCGCCCCTGGAGCCAGTGCTCACCTGTACACAGCCACCTGGTTGGCCCCGTAAGCTCCCACGATCAGGTCTATAGACATCGAGGAATGGGTCAGAATTGGCGATTAGGGCATGGGATCCTCATCTCATCTTCCCAGGGGTTCCCCACACCACCTCCCCCACTGGAGGTTTCACCCAGCCCCTCTGGCAGTCCATAGTGGGACACCAGGCCAGGCATGAGCCCCTGGCCGTGTCTCTTGGCACTTCCAGCGAATGTCCAAGGGCCTTTCTTGGGCATTTCTAGCTGGAGGCAGTCCAGGGCACCTGGGTATCCGTTGTCATCGATGTCTACGGCACCTCGAAGGGAGAAGCCAAAGGCAGAGCCTGTGGGGAAGGGGCTGTCCAGGACCTGGGAGGGACGTGACCTCAGCCCCTCACTCTGACCCAGGAACACCAGCACTTGGCCCCGGCCACTGGGACCCCCGTAGGGGGCAGCCACTGCAGTGTCTGGAAGGAGTAACAGAAAGGAAGTGGCTGATTGTTATTCAGCCTCCCTAGATGACTGTAAAACTTTCCTGAGCTTCTCTGGGAACATCCCAGGAGACTAGGAAAGGGGTGCAAAGTGTGGGTGAAGGAGGCACTGCCCTACCCTCCAGGAGTTAACAATCAGGTGGGAGAGGGACCTGCCAAGTAGGATTGTTATAAAAACAGTGACAACTCTCACTGTCTATTGAGGAAAATATATCCTGAAAATTAAGCATCATTATTCCCTTTTCTAAATTTTTTTTTTTTTGAGATGGAGTCTCGCTCTGTTGTCCTGGCTGGAGTGCAGTGGTGCGATCTCGGCTCACTGCAACCTCTGCCTCCCCCGTTAAAGTGATTCTTGTGCCTCAGCCTCTTCAGTAGCTGGGATTACAGGCGCCTACCACCATGCCCGGCTAATTTTTGTATTTTCAGTAGAGACGGGGTTTCACCACATTGGCCAGGCTGATCTCGAACTCCTGACCTCAAGTGATCTGCCCACCTTGGGCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACCGTGCCCAAGCCCCTTTTAAAATTTTTTTATTTTTAAGACAGTCTTGCACTGTCATTCAGGCTGAAGTGCAGTGGTGCAACCATGGCTTACTGCAGCCTCAACCTTCTGGACTAAAGCAATCCTCCCACCTCAGCTTCCCAAGCAGTTGAGACTATAGCCACCATGCCCAGCTAATTTTTAAAAATTTTTATGGAGACGAGATCTCCCTATGTTGGCCAGGCTGGTGTCAAACTCCTAGGCTCCAGTGATCCTCCTGCCTCGGCCTCCCAAAGTGCTGGGATTCCAGGTGTGAGCCACCGTGCCTGGCCATCTAGCATCTATTTCTAGCCTTCTCCATTCCATCAAACTCCCAGACCCCCCACACTTCCTTCAGCAGGTGACGTAATCTCTTACTTCAGGAAGAGAGGCAGCCCACTGTTATGCTATAATCCCACACCAACTTTCTTTTCCCTTTCCCCATTTGACCCTGGAAGAGGTTTCCTTCCTTCACCCTGACACTGGGCCAGTCACCCTCCCACCCCCTGAGGCATCACAGGGACTCTCTGCTGGCTCATCCCCCCATTTCCCCACAACATCATTTTCAACCTACTACATGTTCTTCCACATTGAAATAATCTTCCCTTGACCCTCATCTCTTTTCTGTGATCACCTTTTCTCTTTTTCCTCTTATAGTCAAACATGTTTTTTTTTTTCCTTTCTATTCCTCAAATTCCTTTTTACCACAAACCTGTTGAAAGAGCTGTCTACATTAGCTGCATCCAATTTTTCATCTCCATTCATACCTTACCCCATTGCATTCTGGCTTCTGACCCTATCTTGGCCTGAATCAATTTATGTCACTGTCACCAATAACCTCCCCTTCTTTTTTCTTTCTTCCTTTCTTTCTCTATTTTTTTTTTTATTTTGTTGAGATGGAGTCTTGCTCTGTCACCCAGGCTGGAGTGCAGTAGTGGCGCAAGCTCAGCTCAGTGCAACCTCCACTTCCCGGGTTCAAGAGATTCTCCTGCTTCAATTTCCCAAGTAGCTGGGATTACAGGTATGAGCCACCATGCCTGGCACCCTCTTCTTGCTAAAGCCCATGAATATTTCTCCAGCCCCACCTAATTGTATCTTGCAGCAGCAGCAGGAGCTGCAGCGCCCACTTCCTCCTGTGCATGCTCTTTAACGCATGCTCTTCCTTGAGTCCCGGGCCATCAGACCCCCTGGGTTCCCTCCTCCCTCTCTGGACACTCCTCTGTCTCCTTCTCAGACTTACCTCCTGTAGGAGTCACCTAAATGCTTTTGCTCCCTAGGGCTCTATCCTGGGCCTCTTATTTCACAGGTCCCGGGACCTCATCCACTTTCCCCAAACCCCTGTCTCCCATTCAGATCTCTCTTGTGGAAGCGGGGAGAGCCACTCCCAACTGTTCTTTGGATATTTCCGCCTAAAGCACCCAAGCCCTTCAAGCTCAACAGGTCCAGAGCTGAACTGCTGATCTCCCGCCTC
Task1_train_24731
Gene ITGA2B (integrin subunit alpha 2b) on Chromosome 17 is impacted by this variant. Evaluate whether it is clinically benign or pathogenic and name the disorder if relevant.
Pathogenic; Glanzmann thrombasthenia
ACAGGCGCCTACCACCATGCCCGGCTAATTTTTGTATTTTCAGTAGAGACGGGGTTTCACCACATTGGCCAGGCTGATCTCGAACTCCTGACCTCAAGTGATCTGCCCACCTTGGGCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACCGTGCCCAAGCCCCTTTTAAAATTTTTTTATTTTTAAGACAGTCTTGCACTGTCATTCAGGCTGAAGTGCAGTGGTGCAACCATGGCTTACTGCAGCCTCAACCTTCTGGACTAAAGCAATCCTCCCACCTCAGCTTCCCAAGCAGTTGAGACTATAGCCACCATGCCCAGCTAATTTTTAAAAATTTTTATGGAGACGAGATCTCCCTATGTTGGCCAGGCTGGTGTCAAACTCCTAGGCTCCAGTGATCCTCCTGCCTCGGCCTCCCAAAGTGCTGGGATTCCAGGTGTGAGCCACCGTGCCTGGCCATCTAGCATCTATTTCTAGCCTTCTCCATTCCATCAAACTCCCAGACCCCCCACACTTCCTTCAGCAGGTGACGTAATCTCTTACTTCAGGAAGAGAGGCAGCCCACTGTTATGCTATAATCCCACACCAACTTTCTTTTCCCTTTCCCCATTTGACCCTGGAAGAGGTTTCCTTCCTTCACCCTGACACTGGGCCAGTCACCCTCCCACCCCCTGAGGCATCACAGGGACTCTCTGCTGGCTCATCCCCCCATTTCCCCACAACATCATTTTCAACCTACTACATGTTCTTCCACATTGAAATAATCTTCCCTTGACCCTCATCTCTTTTCTGTGATCACCTTTTCTCTTTTTCCTCTTATAGTCAAACATGTTTTTTTTTTTCCTTTCTATTCCTCAAATTCCTTTTTACCACAAACCTGTTGAAAGAGCTGTCTACATTAGCTGCATCCAATTTTTCATCTCCATTCATACCTTACCCCATTGCATTCTGGCTTCTGACCCTATCTTGGCCTGAATCAATTTATGTCACTGTCACCAATAACCTCCCCTTCTTTTTTCTTTCTTCCTTTCTTTCTCTATTTTTTTTTTTATTTTGTTGAGATGGAGTCTTGCTCTGTCACCCAGGCTGGAGTGCAGTAGTGGCGCAAGCTCAGCTCAGTGCAACCTCCACTTCCCGGGTTCAAGAGATTCTCCTGCTTCAATTTCCCAAGTAGCTGGGATTACAGGTATGAGCCACCATGCCTGGCACCCTCTTCTTGCTAAAGCCCATGAATATTTCTCCAGCCCCACCTAATTGTATCTTGCAGCAGCAGCAGGAGCTGCAGCGCCCACTTCCTCCTGTGCATGCTCTTTAACGCATGCTCTTCCTTGAGTCCCGGGCCATCAGACCCCCTGGGTTCCCTCCTCCCTCTCTGGACACTCCTCTGTCTCCTTCTCAGACTTACCTCCTGTAGGAGTCACCTAAATGCTTTTGCTCCCTAGGGCTCTATCCTGGGCCTCTTATTTCACAGGTCCCGGGACCTCATCCACTTTCCCCAAACCCCTGTCTCCCATTCAGATCTCTCTTGTGGAAGCGGGGAGAGCCACTCCCAACTGTTCTTTGGATATTTCCGCCTAAAGCACCCAAGCCCTTCAAGCTCAACAGGTCCAGAGCTGAACTGCTGATCTCCCGCCTCTCCCCAGCACCTGCTGCACGGCCTGAGTTCCAGGCAGTGGAGGCCATCACAGGCACCCAACTCCAACCTCTCCCCTGGCCCCACATCCAGTCTCCCACCAAGTCCTAATAATCCGAGTCCTAAATATCTGTGAAGTCACTCCCATCTCTAACTCCACTGCCAAAATCCACATCCAGGTGGTCATTGTCTCTTGCTTGGATTAAGGCAAACACTTCCTAATTAGTCTTCAACTCTCCCATCTGCTCTCCACTCAGCACCCCATGTGTCTAAGCCACATACTTATATGCTTAAAACCCATCCTGGTTCTGGCTGCCCTCAGGCCAACTCCATGCTTTTTGAGTGGCTGTTAACCCCTCTGCAGCAAGTAGGGCTCCTCTCTTCCCTCACCATTGTAGCCATCCCGGTCGAGGTCGCCCAGGGGTGCGATGGCAGAGCCGAATCGCCCATAGAGCTGTGTGCCAGTCAGCAGGAGGCTGGGGGCACCCAGCGCGTGGGGGCCTCGCGGCTGCAGGAACAAATACACACGCCCCACTTCGGCCAGTTTTCGGTCTGCCCGGCTCTCCATATACAGTGGAGCGCCCACCAGCAGATCATGCCTCCTGTGGGCCAGATGAGTGGTTACATGGGACTGGACCAGGGGTATATTGGGGCTAGGGCCAAATCTCCTCGACCCTTGCTCTCCTGTTCCTCCAGTGGATACGTGAGACTAGGGCTAGGAAAGGGAGACAGAGGGCAGCTCTGGTAATTTGGGACCCAACTGGGTAGGGGTGGGGCATGTCCCTCCTCACCCATCCCCGTTGACGTCAGTGACAGCCACTGAATGCCCAAAATACGACGCCATCTGCAAGATGAGGAGCACCATCATTCACGCCGCTGGACAAGCATCCTCTTTAAGAAATGGGCCCTCACCTCCCATGAAATATTCTGAAGTCTCAGTTCCCCCTCCACCCAGCCACGCCCACTGGGACCTGGCCCCCACCTGCTCTCCGCGCAGCCGATGCAGCCTCTGGTAGTAGGAATCCAAAATTTCCACCTGCACGGACAGCGCAGGCGAGAGCATCATTCTTGTACCCAAAGCAACCTCCCACTCCAGGTGAGAAAGGGTGGTTTGGTGGAGGCGGGGCGGGGGTGGGGGGCGCTCAGGAGTTGTCAGCCTGAGAACTGGGATAAGGGGCTTCGGGAGGCCCAGTGGTGGGGGCACTTACCGCTCCCAGGGTCCAGCTCCAAGTGGGGGCACCGACGACATATTCTGGCGATAGGGAGAGCCAGGCTCAGGGAATGAGAGCCTTAGAACCTACCCACTTCCCGCTCCCCGTTCTGCACCCAGGGAAAAATGTGTGTGCAGGAAGATTTCCCTACATAGGGGAGATTTCAGGAAGGCGCTCCTCCCCGGGCTGGGCTACCCAACTCCCGCCCTAAGTGGATTTCTTGCCTGTAGTGTTGAGATCCCCGTCGAACTCGCCCACGGCCACCGAGTACCCTGAGGACAAGGGCGCAAATTAGTCTTTTCCAGGGGAGGAAGCACAGAGGGGACGGAGGGCAAAGAAGGAGGAGATTAAGGCCACTCAGCCCCAGCCCTGCATTGTGCAGATGGAAAAACGGAGGCCTTCGAGGGGCCAAGCCCTGCCCCAGGCTGCGCTACGAGTCCGCAGTGGAAGGGAGCGGTGGGCGCATGGGAGGTGGGCGGTCTGCGGGGAAGCCGCAGGAGCGGAGGGCGGGAGCGGCTTAGGCGGTGGGTTGGCCGGCAGGGGTGGCCATGGAGGCTCCCACAGGGGCAGGACCTGACCGTCTGCGGTGGGCGGTGACCCTCGGGGTGCTGGAAGTCTGGAATGGCGGTGTTACCCCAGTAGCCGTCGAAGTACTCTGGGTTGCTGGAGTCAAAGGAGAGGCTCTGGGAGGACACGTGCCACAAAAGGATGCCTGGGCGGTAACTCGAGAAAATATCCGCAACTGGAGCCTGGGCCAGGAGACCTAGGGCGGGAGGGACAGCGGGTGTGAAGCCCAAAGCGGTCTCCTTGGGCCGCGAGAAGGGAGGGAGGTGTACGGATGGGCACGTACCTAAGAAATAATAGCCGCCAGGAGCCCCAAGCACCAGCTCTCCGGCCTGGAAGGGAAGTCCTGAGGGTGAGAGGGGGCCCTGTTTGGGAGCCGCCCCCACTGCGCTTTTGCTCCCTACTCGCCTGAGTGACCACGGAGCTGAAGCCCGCTTCACAGTAACGCTTGTCCCAGCCTGCAGGAGACAAGGAGGAGGGGTCAGCGCAGGGGTGAAGGGAGGCGCGCGCGAGCCCGGAGGAGGGCTGGGGGACAGGGGCGGGGCCTTGAGTCGGCGGGGCCCTGGGGCGAGGCCAGATCCAAAGCAAGGGCTGCGGCGCTGGGGGCGGGATCCGATGGGGGCGGGGCCAAGCCGTCGCGAGTGGGCGGGGCCAGGTCGTAGCTGGCGCTTACTAAAATCATTTTCC
ACAGGCGCCTACCACCATGCCCGGCTAATTTTTGTATTTTCAGTAGAGACGGGGTTTCACCACATTGGCCAGGCTGATCTCGAACTCCTGACCTCAAGTGATCTGCCCACCTTGGGCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACCGTGCCCAAGCCCCTTTTAAAATTTTTTTATTTTTAAGACAGTCTTGCACTGTCATTCAGGCTGAAGTGCAGTGGTGCAACCATGGCTTACTGCAGCCTCAACCTTCTGGACTAAAGCAATCCTCCCACCTCAGCTTCCCAAGCAGTTGAGACTATAGCCACCATGCCCAGCTAATTTTTAAAAATTTTTATGGAGACGAGATCTCCCTATGTTGGCCAGGCTGGTGTCAAACTCCTAGGCTCCAGTGATCCTCCTGCCTCGGCCTCCCAAAGTGCTGGGATTCCAGGTGTGAGCCACCGTGCCTGGCCATCTAGCATCTATTTCTAGCCTTCTCCATTCCATCAAACTCCCAGACCCCCCACACTTCCTTCAGCAGGTGACGTAATCTCTTACTTCAGGAAGAGAGGCAGCCCACTGTTATGCTATAATCCCACACCAACTTTCTTTTCCCTTTCCCCATTTGACCCTGGAAGAGGTTTCCTTCCTTCACCCTGACACTGGGCCAGTCACCCTCCCACCCCCTGAGGCATCACAGGGACTCTCTGCTGGCTCATCCCCCCATTTCCCCACAACATCATTTTCAACCTACTACATGTTCTTCCACATTGAAATAATCTTCCCTTGACCCTCATCTCTTTTCTGTGATCACCTTTTCTCTTTTTCCTCTTATAGTCAAACATGTTTTTTTTTTTCCTTTCTATTCCTCAAATTCCTTTTTACCACAAACCTGTTGAAAGAGCTGTCTACATTAGCTGCATCCAATTTTTCATCTCCATTCATACCTTACCCCATTGCATTCTGGCTTCTGACCCTATCTTGGCCTGAATCAATTTATGTCACTGTCACCAATAACCTCCCCTTCTTTTTTCTTTCTTCCTTTCTTTCTCTATTTTTTTTTTTATTTTGTTGAGATGGAGTCTTGCTCTGTCACCCAGGCTGGAGTGCAGTAGTGGCGCAAGCTCAGCTCAGTGCAACCTCCACTTCCCGGGTTCAAGAGATTCTCCTGCTTCAATTTCCCAAGTAGCTGGGATTACAGGTATGAGCCACCATGCCTGGCACCCTCTTCTTGCTAAAGCCCATGAATATTTCTCCAGCCCCACCTAATTGTATCTTGCAGCAGCAGCAGGAGCTGCAGCGCCCACTTCCTCCTGTGCATGCTCTTTAACGCATGCTCTTCCTTGAGTCCCGGGCCATCAGACCCCCTGGGTTCCCTCCTCCCTCTCTGGACACTCCTCTGTCTCCTTCTCAGACTTACCTCCTGTAGGAGTCACCTAAATGCTTTTGCTCCCTAGGGCTCTATCCTGGGCCTCTTATTTCACAGGTCCCGGGACCTCATCCACTTTCCCCAAACCCCTGTCTCCCATTCAGATCTCTCTTGTGGAAGCGGGGAGAGCCACTCCCAACTGTTCTTTGGATATTTCCGCCTAAAGCACCCAAGCCCTTCAAGCTCAACAGGTCCAGAGCTGAACTGCTGATCTCCCGCCTCTCCCCAGCACCTGCTGCACGGCCTGAGTTCCAGGCAGTGGAGGCCATCACAGGCACCCAACTCCAACCTCTCCCCTGGCCCCACATCCAGTCTCCCACCAAGTCCTAATAATCCGAGTCCTAAATATCTGTGAAGTCACTCCCATCTCTAACTCCACTGCCAAAATCCACATCCAGGTGGTCATTGTCTCTTGCTTGGATTAAGGCAAACACTTCCTAATTAGTCTTCAACTCTCCCATCTGCTCTCCACTCAGCACCCCATGTGTCTAAGCCACATACTTATATGCTTAAAACCCATCCTGGTTCTGGCTGCCCTCAGGCCAACTCCATGCTTTTTGAGTGGCTGTTAACCCCTCTGCAGCAAGTAGGGCTCCTCTCTTCCCTCACCATTGTAGCCATCCCGGTCGAGGTTGCCCAGGGGTGCGATGGCAGAGCCGAATCGCCCATAGAGCTGTGTGCCAGTCAGCAGGAGGCTGGGGGCACCCAGCGCGTGGGGGCCTCGCGGCTGCAGGAACAAATACACACGCCCCACTTCGGCCAGTTTTCGGTCTGCCCGGCTCTCCATATACAGTGGAGCGCCCACCAGCAGATCATGCCTCCTGTGGGCCAGATGAGTGGTTACATGGGACTGGACCAGGGGTATATTGGGGCTAGGGCCAAATCTCCTCGACCCTTGCTCTCCTGTTCCTCCAGTGGATACGTGAGACTAGGGCTAGGAAAGGGAGACAGAGGGCAGCTCTGGTAATTTGGGACCCAACTGGGTAGGGGTGGGGCATGTCCCTCCTCACCCATCCCCGTTGACGTCAGTGACAGCCACTGAATGCCCAAAATACGACGCCATCTGCAAGATGAGGAGCACCATCATTCACGCCGCTGGACAAGCATCCTCTTTAAGAAATGGGCCCTCACCTCCCATGAAATATTCTGAAGTCTCAGTTCCCCCTCCACCCAGCCACGCCCACTGGGACCTGGCCCCCACCTGCTCTCCGCGCAGCCGATGCAGCCTCTGGTAGTAGGAATCCAAAATTTCCACCTGCACGGACAGCGCAGGCGAGAGCATCATTCTTGTACCCAAAGCAACCTCCCACTCCAGGTGAGAAAGGGTGGTTTGGTGGAGGCGGGGCGGGGGTGGGGGGCGCTCAGGAGTTGTCAGCCTGAGAACTGGGATAAGGGGCTTCGGGAGGCCCAGTGGTGGGGGCACTTACCGCTCCCAGGGTCCAGCTCCAAGTGGGGGCACCGACGACATATTCTGGCGATAGGGAGAGCCAGGCTCAGGGAATGAGAGCCTTAGAACCTACCCACTTCCCGCTCCCCGTTCTGCACCCAGGGAAAAATGTGTGTGCAGGAAGATTTCCCTACATAGGGGAGATTTCAGGAAGGCGCTCCTCCCCGGGCTGGGCTACCCAACTCCCGCCCTAAGTGGATTTCTTGCCTGTAGTGTTGAGATCCCCGTCGAACTCGCCCACGGCCACCGAGTACCCTGAGGACAAGGGCGCAAATTAGTCTTTTCCAGGGGAGGAAGCACAGAGGGGACGGAGGGCAAAGAAGGAGGAGATTAAGGCCACTCAGCCCCAGCCCTGCATTGTGCAGATGGAAAAACGGAGGCCTTCGAGGGGCCAAGCCCTGCCCCAGGCTGCGCTACGAGTCCGCAGTGGAAGGGAGCGGTGGGCGCATGGGAGGTGGGCGGTCTGCGGGGAAGCCGCAGGAGCGGAGGGCGGGAGCGGCTTAGGCGGTGGGTTGGCCGGCAGGGGTGGCCATGGAGGCTCCCACAGGGGCAGGACCTGACCGTCTGCGGTGGGCGGTGACCCTCGGGGTGCTGGAAGTCTGGAATGGCGGTGTTACCCCAGTAGCCGTCGAAGTACTCTGGGTTGCTGGAGTCAAAGGAGAGGCTCTGGGAGGACACGTGCCACAAAAGGATGCCTGGGCGGTAACTCGAGAAAATATCCGCAACTGGAGCCTGGGCCAGGAGACCTAGGGCGGGAGGGACAGCGGGTGTGAAGCCCAAAGCGGTCTCCTTGGGCCGCGAGAAGGGAGGGAGGTGTACGGATGGGCACGTACCTAAGAAATAATAGCCGCCAGGAGCCCCAAGCACCAGCTCTCCGGCCTGGAAGGGAAGTCCTGAGGGTGAGAGGGGGCCCTGTTTGGGAGCCGCCCCCACTGCGCTTTTGCTCCCTACTCGCCTGAGTGACCACGGAGCTGAAGCCCGCTTCACAGTAACGCTTGTCCCAGCCTGCAGGAGACAAGGAGGAGGGGTCAGCGCAGGGGTGAAGGGAGGCGCGCGCGAGCCCGGAGGAGGGCTGGGGGACAGGGGCGGGGCCTTGAGTCGGCGGGGCCCTGGGGCGAGGCCAGATCCAAAGCAAGGGCTGCGGCGCTGGGGGCGGGATCCGATGGGGGCGGGGCCAAGCCGTCGCGAGTGGGCGGGGCCAGGTCGTAGCTGGCGCTTACTAAAATCATTTTCC
Task1_train_24732
The gene ITGA2B (integrin subunit alpha 2b), on Chromosome 17, contains a mutation. Does this mutation cause a disorder, or is it a benign change?
Pathogenic; Glanzmann thrombasthenia
GGGCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACCGTGCCCAAGCCCCTTTTAAAATTTTTTTATTTTTAAGACAGTCTTGCACTGTCATTCAGGCTGAAGTGCAGTGGTGCAACCATGGCTTACTGCAGCCTCAACCTTCTGGACTAAAGCAATCCTCCCACCTCAGCTTCCCAAGCAGTTGAGACTATAGCCACCATGCCCAGCTAATTTTTAAAAATTTTTATGGAGACGAGATCTCCCTATGTTGGCCAGGCTGGTGTCAAACTCCTAGGCTCCAGTGATCCTCCTGCCTCGGCCTCCCAAAGTGCTGGGATTCCAGGTGTGAGCCACCGTGCCTGGCCATCTAGCATCTATTTCTAGCCTTCTCCATTCCATCAAACTCCCAGACCCCCCACACTTCCTTCAGCAGGTGACGTAATCTCTTACTTCAGGAAGAGAGGCAGCCCACTGTTATGCTATAATCCCACACCAACTTTCTTTTCCCTTTCCCCATTTGACCCTGGAAGAGGTTTCCTTCCTTCACCCTGACACTGGGCCAGTCACCCTCCCACCCCCTGAGGCATCACAGGGACTCTCTGCTGGCTCATCCCCCCATTTCCCCACAACATCATTTTCAACCTACTACATGTTCTTCCACATTGAAATAATCTTCCCTTGACCCTCATCTCTTTTCTGTGATCACCTTTTCTCTTTTTCCTCTTATAGTCAAACATGTTTTTTTTTTTCCTTTCTATTCCTCAAATTCCTTTTTACCACAAACCTGTTGAAAGAGCTGTCTACATTAGCTGCATCCAATTTTTCATCTCCATTCATACCTTACCCCATTGCATTCTGGCTTCTGACCCTATCTTGGCCTGAATCAATTTATGTCACTGTCACCAATAACCTCCCCTTCTTTTTTCTTTCTTCCTTTCTTTCTCTATTTTTTTTTTTATTTTGTTGAGATGGAGTCTTGCTCTGTCACCCAGGCTGGAGTGCAGTAGTGGCGCAAGCTCAGCTCAGTGCAACCTCCACTTCCCGGGTTCAAGAGATTCTCCTGCTTCAATTTCCCAAGTAGCTGGGATTACAGGTATGAGCCACCATGCCTGGCACCCTCTTCTTGCTAAAGCCCATGAATATTTCTCCAGCCCCACCTAATTGTATCTTGCAGCAGCAGCAGGAGCTGCAGCGCCCACTTCCTCCTGTGCATGCTCTTTAACGCATGCTCTTCCTTGAGTCCCGGGCCATCAGACCCCCTGGGTTCCCTCCTCCCTCTCTGGACACTCCTCTGTCTCCTTCTCAGACTTACCTCCTGTAGGAGTCACCTAAATGCTTTTGCTCCCTAGGGCTCTATCCTGGGCCTCTTATTTCACAGGTCCCGGGACCTCATCCACTTTCCCCAAACCCCTGTCTCCCATTCAGATCTCTCTTGTGGAAGCGGGGAGAGCCACTCCCAACTGTTCTTTGGATATTTCCGCCTAAAGCACCCAAGCCCTTCAAGCTCAACAGGTCCAGAGCTGAACTGCTGATCTCCCGCCTCTCCCCAGCACCTGCTGCACGGCCTGAGTTCCAGGCAGTGGAGGCCATCACAGGCACCCAACTCCAACCTCTCCCCTGGCCCCACATCCAGTCTCCCACCAAGTCCTAATAATCCGAGTCCTAAATATCTGTGAAGTCACTCCCATCTCTAACTCCACTGCCAAAATCCACATCCAGGTGGTCATTGTCTCTTGCTTGGATTAAGGCAAACACTTCCTAATTAGTCTTCAACTCTCCCATCTGCTCTCCACTCAGCACCCCATGTGTCTAAGCCACATACTTATATGCTTAAAACCCATCCTGGTTCTGGCTGCCCTCAGGCCAACTCCATGCTTTTTGAGTGGCTGTTAACCCCTCTGCAGCAAGTAGGGCTCCTCTCTTCCCTCACCATTGTAGCCATCCCGGTCGAGGTCGCCCAGGGGTGCGATGGCAGAGCCGAATCGCCCATAGAGCTGTGTGCCAGTCAGCAGGAGGCTGGGGGCACCCAGCGCGTGGGGGCCTCGCGGCTGCAGGAACAAATACACACGCCCCACTTCGGCCAGTTTTCGGTCTGCCCGGCTCTCCATATACAGTGGAGCGCCCACCAGCAGATCATGCCTCCTGTGGGCCAGATGAGTGGTTACATGGGACTGGACCAGGGGTATATTGGGGCTAGGGCCAAATCTCCTCGACCCTTGCTCTCCTGTTCCTCCAGTGGATACGTGAGACTAGGGCTAGGAAAGGGAGACAGAGGGCAGCTCTGGTAATTTGGGACCCAACTGGGTAGGGGTGGGGCATGTCCCTCCTCACCCATCCCCGTTGACGTCAGTGACAGCCACTGAATGCCCAAAATACGACGCCATCTGCAAGATGAGGAGCACCATCATTCACGCCGCTGGACAAGCATCCTCTTTAAGAAATGGGCCCTCACCTCCCATGAAATATTCTGAAGTCTCAGTTCCCCCTCCACCCAGCCACGCCCACTGGGACCTGGCCCCCACCTGCTCTCCGCGCAGCCGATGCAGCCTCTGGTAGTAGGAATCCAAAATTTCCACCTGCACGGACAGCGCAGGCGAGAGCATCATTCTTGTACCCAAAGCAACCTCCCACTCCAGGTGAGAAAGGGTGGTTTGGTGGAGGCGGGGCGGGGGTGGGGGGCGCTCAGGAGTTGTCAGCCTGAGAACTGGGATAAGGGGCTTCGGGAGGCCCAGTGGTGGGGGCACTTACCGCTCCCAGGGTCCAGCTCCAAGTGGGGGCACCGACGACATATTCTGGCGATAGGGAGAGCCAGGCTCAGGGAATGAGAGCCTTAGAACCTACCCACTTCCCGCTCCCCGTTCTGCACCCAGGGAAAAATGTGTGTGCAGGAAGATTTCCCTACATAGGGGAGATTTCAGGAAGGCGCTCCTCCCCGGGCTGGGCTACCCAACTCCCGCCCTAAGTGGATTTCTTGCCTGTAGTGTTGAGATCCCCGTCGAACTCGCCCACGGCCACCGAGTACCCTGAGGACAAGGGCGCAAATTAGTCTTTTCCAGGGGAGGAAGCACAGAGGGGACGGAGGGCAAAGAAGGAGGAGATTAAGGCCACTCAGCCCCAGCCCTGCATTGTGCAGATGGAAAAACGGAGGCCTTCGAGGGGCCAAGCCCTGCCCCAGGCTGCGCTACGAGTCCGCAGTGGAAGGGAGCGGTGGGCGCATGGGAGGTGGGCGGTCTGCGGGGAAGCCGCAGGAGCGGAGGGCGGGAGCGGCTTAGGCGGTGGGTTGGCCGGCAGGGGTGGCCATGGAGGCTCCCACAGGGGCAGGACCTGACCGTCTGCGGTGGGCGGTGACCCTCGGGGTGCTGGAAGTCTGGAATGGCGGTGTTACCCCAGTAGCCGTCGAAGTACTCTGGGTTGCTGGAGTCAAAGGAGAGGCTCTGGGAGGACACGTGCCACAAAAGGATGCCTGGGCGGTAACTCGAGAAAATATCCGCAACTGGAGCCTGGGCCAGGAGACCTAGGGCGGGAGGGACAGCGGGTGTGAAGCCCAAAGCGGTCTCCTTGGGCCGCGAGAAGGGAGGGAGGTGTACGGATGGGCACGTACCTAAGAAATAATAGCCGCCAGGAGCCCCAAGCACCAGCTCTCCGGCCTGGAAGGGAAGTCCTGAGGGTGAGAGGGGGCCCTGTTTGGGAGCCGCCCCCACTGCGCTTTTGCTCCCTACTCGCCTGAGTGACCACGGAGCTGAAGCCCGCTTCACAGTAACGCTTGTCCCAGCCTGCAGGAGACAAGGAGGAGGGGTCAGCGCAGGGGTGAAGGGAGGCGCGCGCGAGCCCGGAGGAGGGCTGGGGGACAGGGGCGGGGCCTTGAGTCGGCGGGGCCCTGGGGCGAGGCCAGATCCAAAGCAAGGGCTGCGGCGCTGGGGGCGGGATCCGATGGGGGCGGGGCCAAGCCGTCGCGAGTGGGCGGGGCCAGGTCGTAGCTGGCGCTTACTAAAATCATTTTCCACGTAAATGCGGCTCAGGGTGTTCCCGCGACAGGGGGAGTACTCGGCGCGGCGGCCGCTCTCTGGCTGAGCCAAAAAGCAGCTACCTACGGGCGTCTTCTCAGCCTCCTCAGT
GGGCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACCGTGCCCAAGCCCCTTTTAAAATTTTTTTATTTTTAAGACAGTCTTGCACTGTCATTCAGGCTGAAGTGCAGTGGTGCAACCATGGCTTACTGCAGCCTCAACCTTCTGGACTAAAGCAATCCTCCCACCTCAGCTTCCCAAGCAGTTGAGACTATAGCCACCATGCCCAGCTAATTTTTAAAAATTTTTATGGAGACGAGATCTCCCTATGTTGGCCAGGCTGGTGTCAAACTCCTAGGCTCCAGTGATCCTCCTGCCTCGGCCTCCCAAAGTGCTGGGATTCCAGGTGTGAGCCACCGTGCCTGGCCATCTAGCATCTATTTCTAGCCTTCTCCATTCCATCAAACTCCCAGACCCCCCACACTTCCTTCAGCAGGTGACGTAATCTCTTACTTCAGGAAGAGAGGCAGCCCACTGTTATGCTATAATCCCACACCAACTTTCTTTTCCCTTTCCCCATTTGACCCTGGAAGAGGTTTCCTTCCTTCACCCTGACACTGGGCCAGTCACCCTCCCACCCCCTGAGGCATCACAGGGACTCTCTGCTGGCTCATCCCCCCATTTCCCCACAACATCATTTTCAACCTACTACATGTTCTTCCACATTGAAATAATCTTCCCTTGACCCTCATCTCTTTTCTGTGATCACCTTTTCTCTTTTTCCTCTTATAGTCAAACATGTTTTTTTTTTTCCTTTCTATTCCTCAAATTCCTTTTTACCACAAACCTGTTGAAAGAGCTGTCTACATTAGCTGCATCCAATTTTTCATCTCCATTCATACCTTACCCCATTGCATTCTGGCTTCTGACCCTATCTTGGCCTGAATCAATTTATGTCACTGTCACCAATAACCTCCCCTTCTTTTTTCTTTCTTCCTTTCTTTCTCTATTTTTTTTTTTATTTTGTTGAGATGGAGTCTTGCTCTGTCACCCAGGCTGGAGTGCAGTAGTGGCGCAAGCTCAGCTCAGTGCAACCTCCACTTCCCGGGTTCAAGAGATTCTCCTGCTTCAATTTCCCAAGTAGCTGGGATTACAGGTATGAGCCACCATGCCTGGCACCCTCTTCTTGCTAAAGCCCATGAATATTTCTCCAGCCCCACCTAATTGTATCTTGCAGCAGCAGCAGGAGCTGCAGCGCCCACTTCCTCCTGTGCATGCTCTTTAACGCATGCTCTTCCTTGAGTCCCGGGCCATCAGACCCCCTGGGTTCCCTCCTCCCTCTCTGGACACTCCTCTGTCTCCTTCTCAGACTTACCTCCTGTAGGAGTCACCTAAATGCTTTTGCTCCCTAGGGCTCTATCCTGGGCCTCTTATTTCACAGGTCCCGGGACCTCATCCACTTTCCCCAAACCCCTGTCTCCCATTCAGATCTCTCTTGTGGAAGCGGGGAGAGCCACTCCCAACTGTTCTTTGGATATTTCCGCCTAAAGCACCCAAGCCCTTCAAGCTCAACAGGTCCAGAGCTGAACTGCTGATCTCCCGCCTCTCCCCAGCACCTGCTGCACGGCCTGAGTTCCAGGCAGTGGAGGCCATCACAGGCACCCAACTCCAACCTCTCCCCTGGCCCCACATCCAGTCTCCCACCAAGTCCTAATAATCCGAGTCCTAAATATCTGTGAAGTCACTCCCATCTCTAACTCCACTGCCAAAATCCACATCCAGGTGGTCATTGTCTCTTGCTTGGATTAAGGCAAACACTTCCTAATTAGTCTTCAACTCTCCCATCTGCTCTCCACTCAGCACCCCATGTGTCTAAGCCACATACTTATATGCTTAAAACCCATCCTGGTTCTGGCTGCCCTCAGGCCAACTCCATGCTTTTTGAGTGGCTGTTAACCCCTCTGCAGCAAGTAGGGCTCCTCTCTTCCCTCACCATTGTAGCCATCCCGGTCGAGGTCGCCCAGGGGTGCGATGGCAGAGCCGAATCGCCCATAGAGCTGTGTGCCAGTCAGCAGGAGGCTGGGGGCACCCAGCGCGTGGGGGCCTCGCGGCTGCAGGAACAAATACACATGCCCCACTTCGGCCAGTTTTCGGTCTGCCCGGCTCTCCATATACAGTGGAGCGCCCACCAGCAGATCATGCCTCCTGTGGGCCAGATGAGTGGTTACATGGGACTGGACCAGGGGTATATTGGGGCTAGGGCCAAATCTCCTCGACCCTTGCTCTCCTGTTCCTCCAGTGGATACGTGAGACTAGGGCTAGGAAAGGGAGACAGAGGGCAGCTCTGGTAATTTGGGACCCAACTGGGTAGGGGTGGGGCATGTCCCTCCTCACCCATCCCCGTTGACGTCAGTGACAGCCACTGAATGCCCAAAATACGACGCCATCTGCAAGATGAGGAGCACCATCATTCACGCCGCTGGACAAGCATCCTCTTTAAGAAATGGGCCCTCACCTCCCATGAAATATTCTGAAGTCTCAGTTCCCCCTCCACCCAGCCACGCCCACTGGGACCTGGCCCCCACCTGCTCTCCGCGCAGCCGATGCAGCCTCTGGTAGTAGGAATCCAAAATTTCCACCTGCACGGACAGCGCAGGCGAGAGCATCATTCTTGTACCCAAAGCAACCTCCCACTCCAGGTGAGAAAGGGTGGTTTGGTGGAGGCGGGGCGGGGGTGGGGGGCGCTCAGGAGTTGTCAGCCTGAGAACTGGGATAAGGGGCTTCGGGAGGCCCAGTGGTGGGGGCACTTACCGCTCCCAGGGTCCAGCTCCAAGTGGGGGCACCGACGACATATTCTGGCGATAGGGAGAGCCAGGCTCAGGGAATGAGAGCCTTAGAACCTACCCACTTCCCGCTCCCCGTTCTGCACCCAGGGAAAAATGTGTGTGCAGGAAGATTTCCCTACATAGGGGAGATTTCAGGAAGGCGCTCCTCCCCGGGCTGGGCTACCCAACTCCCGCCCTAAGTGGATTTCTTGCCTGTAGTGTTGAGATCCCCGTCGAACTCGCCCACGGCCACCGAGTACCCTGAGGACAAGGGCGCAAATTAGTCTTTTCCAGGGGAGGAAGCACAGAGGGGACGGAGGGCAAAGAAGGAGGAGATTAAGGCCACTCAGCCCCAGCCCTGCATTGTGCAGATGGAAAAACGGAGGCCTTCGAGGGGCCAAGCCCTGCCCCAGGCTGCGCTACGAGTCCGCAGTGGAAGGGAGCGGTGGGCGCATGGGAGGTGGGCGGTCTGCGGGGAAGCCGCAGGAGCGGAGGGCGGGAGCGGCTTAGGCGGTGGGTTGGCCGGCAGGGGTGGCCATGGAGGCTCCCACAGGGGCAGGACCTGACCGTCTGCGGTGGGCGGTGACCCTCGGGGTGCTGGAAGTCTGGAATGGCGGTGTTACCCCAGTAGCCGTCGAAGTACTCTGGGTTGCTGGAGTCAAAGGAGAGGCTCTGGGAGGACACGTGCCACAAAAGGATGCCTGGGCGGTAACTCGAGAAAATATCCGCAACTGGAGCCTGGGCCAGGAGACCTAGGGCGGGAGGGACAGCGGGTGTGAAGCCCAAAGCGGTCTCCTTGGGCCGCGAGAAGGGAGGGAGGTGTACGGATGGGCACGTACCTAAGAAATAATAGCCGCCAGGAGCCCCAAGCACCAGCTCTCCGGCCTGGAAGGGAAGTCCTGAGGGTGAGAGGGGGCCCTGTTTGGGAGCCGCCCCCACTGCGCTTTTGCTCCCTACTCGCCTGAGTGACCACGGAGCTGAAGCCCGCTTCACAGTAACGCTTGTCCCAGCCTGCAGGAGACAAGGAGGAGGGGTCAGCGCAGGGGTGAAGGGAGGCGCGCGCGAGCCCGGAGGAGGGCTGGGGGACAGGGGCGGGGCCTTGAGTCGGCGGGGCCCTGGGGCGAGGCCAGATCCAAAGCAAGGGCTGCGGCGCTGGGGGCGGGATCCGATGGGGGCGGGGCCAAGCCGTCGCGAGTGGGCGGGGCCAGGTCGTAGCTGGCGCTTACTAAAATCATTTTCCACGTAAATGCGGCTCAGGGTGTTCCCGCGACAGGGGGAGTACTCGGCGCGGCGGCCGCTCTCTGGCTGAGCCAAAAAGCAGCTACCTACGGGCGTCTTCTCAGCCTCCTCAGT
Task1_train_24733
A variant affecting Chromosome 17, within the gene ITGA2B (integrin subunit alpha 2b), has been observed. Determine if it's benign or associated with disease.
Pathogenic; Glanzmann thrombasthenia
AGTGCTGGGATTACAGGTGTGAGCCACCGTGCCCAAGCCCCTTTTAAAATTTTTTTATTTTTAAGACAGTCTTGCACTGTCATTCAGGCTGAAGTGCAGTGGTGCAACCATGGCTTACTGCAGCCTCAACCTTCTGGACTAAAGCAATCCTCCCACCTCAGCTTCCCAAGCAGTTGAGACTATAGCCACCATGCCCAGCTAATTTTTAAAAATTTTTATGGAGACGAGATCTCCCTATGTTGGCCAGGCTGGTGTCAAACTCCTAGGCTCCAGTGATCCTCCTGCCTCGGCCTCCCAAAGTGCTGGGATTCCAGGTGTGAGCCACCGTGCCTGGCCATCTAGCATCTATTTCTAGCCTTCTCCATTCCATCAAACTCCCAGACCCCCCACACTTCCTTCAGCAGGTGACGTAATCTCTTACTTCAGGAAGAGAGGCAGCCCACTGTTATGCTATAATCCCACACCAACTTTCTTTTCCCTTTCCCCATTTGACCCTGGAAGAGGTTTCCTTCCTTCACCCTGACACTGGGCCAGTCACCCTCCCACCCCCTGAGGCATCACAGGGACTCTCTGCTGGCTCATCCCCCCATTTCCCCACAACATCATTTTCAACCTACTACATGTTCTTCCACATTGAAATAATCTTCCCTTGACCCTCATCTCTTTTCTGTGATCACCTTTTCTCTTTTTCCTCTTATAGTCAAACATGTTTTTTTTTTTCCTTTCTATTCCTCAAATTCCTTTTTACCACAAACCTGTTGAAAGAGCTGTCTACATTAGCTGCATCCAATTTTTCATCTCCATTCATACCTTACCCCATTGCATTCTGGCTTCTGACCCTATCTTGGCCTGAATCAATTTATGTCACTGTCACCAATAACCTCCCCTTCTTTTTTCTTTCTTCCTTTCTTTCTCTATTTTTTTTTTTATTTTGTTGAGATGGAGTCTTGCTCTGTCACCCAGGCTGGAGTGCAGTAGTGGCGCAAGCTCAGCTCAGTGCAACCTCCACTTCCCGGGTTCAAGAGATTCTCCTGCTTCAATTTCCCAAGTAGCTGGGATTACAGGTATGAGCCACCATGCCTGGCACCCTCTTCTTGCTAAAGCCCATGAATATTTCTCCAGCCCCACCTAATTGTATCTTGCAGCAGCAGCAGGAGCTGCAGCGCCCACTTCCTCCTGTGCATGCTCTTTAACGCATGCTCTTCCTTGAGTCCCGGGCCATCAGACCCCCTGGGTTCCCTCCTCCCTCTCTGGACACTCCTCTGTCTCCTTCTCAGACTTACCTCCTGTAGGAGTCACCTAAATGCTTTTGCTCCCTAGGGCTCTATCCTGGGCCTCTTATTTCACAGGTCCCGGGACCTCATCCACTTTCCCCAAACCCCTGTCTCCCATTCAGATCTCTCTTGTGGAAGCGGGGAGAGCCACTCCCAACTGTTCTTTGGATATTTCCGCCTAAAGCACCCAAGCCCTTCAAGCTCAACAGGTCCAGAGCTGAACTGCTGATCTCCCGCCTCTCCCCAGCACCTGCTGCACGGCCTGAGTTCCAGGCAGTGGAGGCCATCACAGGCACCCAACTCCAACCTCTCCCCTGGCCCCACATCCAGTCTCCCACCAAGTCCTAATAATCCGAGTCCTAAATATCTGTGAAGTCACTCCCATCTCTAACTCCACTGCCAAAATCCACATCCAGGTGGTCATTGTCTCTTGCTTGGATTAAGGCAAACACTTCCTAATTAGTCTTCAACTCTCCCATCTGCTCTCCACTCAGCACCCCATGTGTCTAAGCCACATACTTATATGCTTAAAACCCATCCTGGTTCTGGCTGCCCTCAGGCCAACTCCATGCTTTTTGAGTGGCTGTTAACCCCTCTGCAGCAAGTAGGGCTCCTCTCTTCCCTCACCATTGTAGCCATCCCGGTCGAGGTCGCCCAGGGGTGCGATGGCAGAGCCGAATCGCCCATAGAGCTGTGTGCCAGTCAGCAGGAGGCTGGGGGCACCCAGCGCGTGGGGGCCTCGCGGCTGCAGGAACAAATACACACGCCCCACTTCGGCCAGTTTTCGGTCTGCCCGGCTCTCCATATACAGTGGAGCGCCCACCAGCAGATCATGCCTCCTGTGGGCCAGATGAGTGGTTACATGGGACTGGACCAGGGGTATATTGGGGCTAGGGCCAAATCTCCTCGACCCTTGCTCTCCTGTTCCTCCAGTGGATACGTGAGACTAGGGCTAGGAAAGGGAGACAGAGGGCAGCTCTGGTAATTTGGGACCCAACTGGGTAGGGGTGGGGCATGTCCCTCCTCACCCATCCCCGTTGACGTCAGTGACAGCCACTGAATGCCCAAAATACGACGCCATCTGCAAGATGAGGAGCACCATCATTCACGCCGCTGGACAAGCATCCTCTTTAAGAAATGGGCCCTCACCTCCCATGAAATATTCTGAAGTCTCAGTTCCCCCTCCACCCAGCCACGCCCACTGGGACCTGGCCCCCACCTGCTCTCCGCGCAGCCGATGCAGCCTCTGGTAGTAGGAATCCAAAATTTCCACCTGCACGGACAGCGCAGGCGAGAGCATCATTCTTGTACCCAAAGCAACCTCCCACTCCAGGTGAGAAAGGGTGGTTTGGTGGAGGCGGGGCGGGGGTGGGGGGCGCTCAGGAGTTGTCAGCCTGAGAACTGGGATAAGGGGCTTCGGGAGGCCCAGTGGTGGGGGCACTTACCGCTCCCAGGGTCCAGCTCCAAGTGGGGGCACCGACGACATATTCTGGCGATAGGGAGAGCCAGGCTCAGGGAATGAGAGCCTTAGAACCTACCCACTTCCCGCTCCCCGTTCTGCACCCAGGGAAAAATGTGTGTGCAGGAAGATTTCCCTACATAGGGGAGATTTCAGGAAGGCGCTCCTCCCCGGGCTGGGCTACCCAACTCCCGCCCTAAGTGGATTTCTTGCCTGTAGTGTTGAGATCCCCGTCGAACTCGCCCACGGCCACCGAGTACCCTGAGGACAAGGGCGCAAATTAGTCTTTTCCAGGGGAGGAAGCACAGAGGGGACGGAGGGCAAAGAAGGAGGAGATTAAGGCCACTCAGCCCCAGCCCTGCATTGTGCAGATGGAAAAACGGAGGCCTTCGAGGGGCCAAGCCCTGCCCCAGGCTGCGCTACGAGTCCGCAGTGGAAGGGAGCGGTGGGCGCATGGGAGGTGGGCGGTCTGCGGGGAAGCCGCAGGAGCGGAGGGCGGGAGCGGCTTAGGCGGTGGGTTGGCCGGCAGGGGTGGCCATGGAGGCTCCCACAGGGGCAGGACCTGACCGTCTGCGGTGGGCGGTGACCCTCGGGGTGCTGGAAGTCTGGAATGGCGGTGTTACCCCAGTAGCCGTCGAAGTACTCTGGGTTGCTGGAGTCAAAGGAGAGGCTCTGGGAGGACACGTGCCACAAAAGGATGCCTGGGCGGTAACTCGAGAAAATATCCGCAACTGGAGCCTGGGCCAGGAGACCTAGGGCGGGAGGGACAGCGGGTGTGAAGCCCAAAGCGGTCTCCTTGGGCCGCGAGAAGGGAGGGAGGTGTACGGATGGGCACGTACCTAAGAAATAATAGCCGCCAGGAGCCCCAAGCACCAGCTCTCCGGCCTGGAAGGGAAGTCCTGAGGGTGAGAGGGGGCCCTGTTTGGGAGCCGCCCCCACTGCGCTTTTGCTCCCTACTCGCCTGAGTGACCACGGAGCTGAAGCCCGCTTCACAGTAACGCTTGTCCCAGCCTGCAGGAGACAAGGAGGAGGGGTCAGCGCAGGGGTGAAGGGAGGCGCGCGCGAGCCCGGAGGAGGGCTGGGGGACAGGGGCGGGGCCTTGAGTCGGCGGGGCCCTGGGGCGAGGCCAGATCCAAAGCAAGGGCTGCGGCGCTGGGGGCGGGATCCGATGGGGGCGGGGCCAAGCCGTCGCGAGTGGGCGGGGCCAGGTCGTAGCTGGCGCTTACTAAAATCATTTTCCACGTAAATGCGGCTCAGGGTGTTCCCGCGACAGGGGGAGTACTCGGCGCGGCGGCCGCTCTCTGGCTGAGCCAAAAAGCAGCTACCTACGGGCGTCTTCTCAGCCTCCTCAGTCTTTTCTAGG
AGTGCTGGGATTACAGGTGTGAGCCACCGTGCCCAAGCCCCTTTTAAAATTTTTTTATTTTTAAGACAGTCTTGCACTGTCATTCAGGCTGAAGTGCAGTGGTGCAACCATGGCTTACTGCAGCCTCAACCTTCTGGACTAAAGCAATCCTCCCACCTCAGCTTCCCAAGCAGTTGAGACTATAGCCACCATGCCCAGCTAATTTTTAAAAATTTTTATGGAGACGAGATCTCCCTATGTTGGCCAGGCTGGTGTCAAACTCCTAGGCTCCAGTGATCCTCCTGCCTCGGCCTCCCAAAGTGCTGGGATTCCAGGTGTGAGCCACCGTGCCTGGCCATCTAGCATCTATTTCTAGCCTTCTCCATTCCATCAAACTCCCAGACCCCCCACACTTCCTTCAGCAGGTGACGTAATCTCTTACTTCAGGAAGAGAGGCAGCCCACTGTTATGCTATAATCCCACACCAACTTTCTTTTCCCTTTCCCCATTTGACCCTGGAAGAGGTTTCCTTCCTTCACCCTGACACTGGGCCAGTCACCCTCCCACCCCCTGAGGCATCACAGGGACTCTCTGCTGGCTCATCCCCCCATTTCCCCACAACATCATTTTCAACCTACTACATGTTCTTCCACATTGAAATAATCTTCCCTTGACCCTCATCTCTTTTCTGTGATCACCTTTTCTCTTTTTCCTCTTATAGTCAAACATGTTTTTTTTTTTCCTTTCTATTCCTCAAATTCCTTTTTACCACAAACCTGTTGAAAGAGCTGTCTACATTAGCTGCATCCAATTTTTCATCTCCATTCATACCTTACCCCATTGCATTCTGGCTTCTGACCCTATCTTGGCCTGAATCAATTTATGTCACTGTCACCAATAACCTCCCCTTCTTTTTTCTTTCTTCCTTTCTTTCTCTATTTTTTTTTTTATTTTGTTGAGATGGAGTCTTGCTCTGTCACCCAGGCTGGAGTGCAGTAGTGGCGCAAGCTCAGCTCAGTGCAACCTCCACTTCCCGGGTTCAAGAGATTCTCCTGCTTCAATTTCCCAAGTAGCTGGGATTACAGGTATGAGCCACCATGCCTGGCACCCTCTTCTTGCTAAAGCCCATGAATATTTCTCCAGCCCCACCTAATTGTATCTTGCAGCAGCAGCAGGAGCTGCAGCGCCCACTTCCTCCTGTGCATGCTCTTTAACGCATGCTCTTCCTTGAGTCCCGGGCCATCAGACCCCCTGGGTTCCCTCCTCCCTCTCTGGACACTCCTCTGTCTCCTTCTCAGACTTACCTCCTGTAGGAGTCACCTAAATGCTTTTGCTCCCTAGGGCTCTATCCTGGGCCTCTTATTTCACAGGTCCCGGGACCTCATCCACTTTCCCCAAACCCCTGTCTCCCATTCAGATCTCTCTTGTGGAAGCGGGGAGAGCCACTCCCAACTGTTCTTTGGATATTTCCGCCTAAAGCACCCAAGCCCTTCAAGCTCAACAGGTCCAGAGCTGAACTGCTGATCTCCCGCCTCTCCCCAGCACCTGCTGCACGGCCTGAGTTCCAGGCAGTGGAGGCCATCACAGGCACCCAACTCCAACCTCTCCCCTGGCCCCACATCCAGTCTCCCACCAAGTCCTAATAATCCGAGTCCTAAATATCTGTGAAGTCACTCCCATCTCTAACTCCACTGCCAAAATCCACATCCAGGTGGTCATTGTCTCTTGCTTGGATTAAGGCAAACACTTCCTAATTAGTCTTCAACTCTCCCATCTGCTCTCCACTCAGCACCCCATGTGTCTAAGCCACATACTTATATGCTTAAAACCCATCCTGGTTCTGGCTGCCCTCAGGCCAACTCCATGCTTTTTGAGTGGCTGTTAACCCCTCTGCAGCAAGTAGGGCTCCTCTCTTCCCTCACCATTGTAGCCATCCCGGTCGAGGTCGCCCAGGGGTGCGATGGCAGAGCCGAATCGCCCATAGAGCTGTGTGCCAGTCAGCAGGAGGCTGGGGGCACCCAGCGCGTGGGGGCCTCGCGGCTGCAGGAACAAATACACACGCCCCACTTTGGCCAGTTTTCGGTCTGCCCGGCTCTCCATATACAGTGGAGCGCCCACCAGCAGATCATGCCTCCTGTGGGCCAGATGAGTGGTTACATGGGACTGGACCAGGGGTATATTGGGGCTAGGGCCAAATCTCCTCGACCCTTGCTCTCCTGTTCCTCCAGTGGATACGTGAGACTAGGGCTAGGAAAGGGAGACAGAGGGCAGCTCTGGTAATTTGGGACCCAACTGGGTAGGGGTGGGGCATGTCCCTCCTCACCCATCCCCGTTGACGTCAGTGACAGCCACTGAATGCCCAAAATACGACGCCATCTGCAAGATGAGGAGCACCATCATTCACGCCGCTGGACAAGCATCCTCTTTAAGAAATGGGCCCTCACCTCCCATGAAATATTCTGAAGTCTCAGTTCCCCCTCCACCCAGCCACGCCCACTGGGACCTGGCCCCCACCTGCTCTCCGCGCAGCCGATGCAGCCTCTGGTAGTAGGAATCCAAAATTTCCACCTGCACGGACAGCGCAGGCGAGAGCATCATTCTTGTACCCAAAGCAACCTCCCACTCCAGGTGAGAAAGGGTGGTTTGGTGGAGGCGGGGCGGGGGTGGGGGGCGCTCAGGAGTTGTCAGCCTGAGAACTGGGATAAGGGGCTTCGGGAGGCCCAGTGGTGGGGGCACTTACCGCTCCCAGGGTCCAGCTCCAAGTGGGGGCACCGACGACATATTCTGGCGATAGGGAGAGCCAGGCTCAGGGAATGAGAGCCTTAGAACCTACCCACTTCCCGCTCCCCGTTCTGCACCCAGGGAAAAATGTGTGTGCAGGAAGATTTCCCTACATAGGGGAGATTTCAGGAAGGCGCTCCTCCCCGGGCTGGGCTACCCAACTCCCGCCCTAAGTGGATTTCTTGCCTGTAGTGTTGAGATCCCCGTCGAACTCGCCCACGGCCACCGAGTACCCTGAGGACAAGGGCGCAAATTAGTCTTTTCCAGGGGAGGAAGCACAGAGGGGACGGAGGGCAAAGAAGGAGGAGATTAAGGCCACTCAGCCCCAGCCCTGCATTGTGCAGATGGAAAAACGGAGGCCTTCGAGGGGCCAAGCCCTGCCCCAGGCTGCGCTACGAGTCCGCAGTGGAAGGGAGCGGTGGGCGCATGGGAGGTGGGCGGTCTGCGGGGAAGCCGCAGGAGCGGAGGGCGGGAGCGGCTTAGGCGGTGGGTTGGCCGGCAGGGGTGGCCATGGAGGCTCCCACAGGGGCAGGACCTGACCGTCTGCGGTGGGCGGTGACCCTCGGGGTGCTGGAAGTCTGGAATGGCGGTGTTACCCCAGTAGCCGTCGAAGTACTCTGGGTTGCTGGAGTCAAAGGAGAGGCTCTGGGAGGACACGTGCCACAAAAGGATGCCTGGGCGGTAACTCGAGAAAATATCCGCAACTGGAGCCTGGGCCAGGAGACCTAGGGCGGGAGGGACAGCGGGTGTGAAGCCCAAAGCGGTCTCCTTGGGCCGCGAGAAGGGAGGGAGGTGTACGGATGGGCACGTACCTAAGAAATAATAGCCGCCAGGAGCCCCAAGCACCAGCTCTCCGGCCTGGAAGGGAAGTCCTGAGGGTGAGAGGGGGCCCTGTTTGGGAGCCGCCCCCACTGCGCTTTTGCTCCCTACTCGCCTGAGTGACCACGGAGCTGAAGCCCGCTTCACAGTAACGCTTGTCCCAGCCTGCAGGAGACAAGGAGGAGGGGTCAGCGCAGGGGTGAAGGGAGGCGCGCGCGAGCCCGGAGGAGGGCTGGGGGACAGGGGCGGGGCCTTGAGTCGGCGGGGCCCTGGGGCGAGGCCAGATCCAAAGCAAGGGCTGCGGCGCTGGGGGCGGGATCCGATGGGGGCGGGGCCAAGCCGTCGCGAGTGGGCGGGGCCAGGTCGTAGCTGGCGCTTACTAAAATCATTTTCCACGTAAATGCGGCTCAGGGTGTTCCCGCGACAGGGGGAGTACTCGGCGCGGCGGCCGCTCTCTGGCTGAGCCAAAAAGCAGCTACCTACGGGCGTCTTCTCAGCCTCCTCAGTCTTTTCTAGG
Task1_train_24734
A variant has been detected on Chromosome 17 in ITGA2B (integrin subunit alpha 2b). What is its effect — pathogenic or benign? If pathogenic, name the disease.
Pathogenic; Glanzmann thrombasthenia
AGCCCCTTTTAAAATTTTTTTATTTTTAAGACAGTCTTGCACTGTCATTCAGGCTGAAGTGCAGTGGTGCAACCATGGCTTACTGCAGCCTCAACCTTCTGGACTAAAGCAATCCTCCCACCTCAGCTTCCCAAGCAGTTGAGACTATAGCCACCATGCCCAGCTAATTTTTAAAAATTTTTATGGAGACGAGATCTCCCTATGTTGGCCAGGCTGGTGTCAAACTCCTAGGCTCCAGTGATCCTCCTGCCTCGGCCTCCCAAAGTGCTGGGATTCCAGGTGTGAGCCACCGTGCCTGGCCATCTAGCATCTATTTCTAGCCTTCTCCATTCCATCAAACTCCCAGACCCCCCACACTTCCTTCAGCAGGTGACGTAATCTCTTACTTCAGGAAGAGAGGCAGCCCACTGTTATGCTATAATCCCACACCAACTTTCTTTTCCCTTTCCCCATTTGACCCTGGAAGAGGTTTCCTTCCTTCACCCTGACACTGGGCCAGTCACCCTCCCACCCCCTGAGGCATCACAGGGACTCTCTGCTGGCTCATCCCCCCATTTCCCCACAACATCATTTTCAACCTACTACATGTTCTTCCACATTGAAATAATCTTCCCTTGACCCTCATCTCTTTTCTGTGATCACCTTTTCTCTTTTTCCTCTTATAGTCAAACATGTTTTTTTTTTTCCTTTCTATTCCTCAAATTCCTTTTTACCACAAACCTGTTGAAAGAGCTGTCTACATTAGCTGCATCCAATTTTTCATCTCCATTCATACCTTACCCCATTGCATTCTGGCTTCTGACCCTATCTTGGCCTGAATCAATTTATGTCACTGTCACCAATAACCTCCCCTTCTTTTTTCTTTCTTCCTTTCTTTCTCTATTTTTTTTTTTATTTTGTTGAGATGGAGTCTTGCTCTGTCACCCAGGCTGGAGTGCAGTAGTGGCGCAAGCTCAGCTCAGTGCAACCTCCACTTCCCGGGTTCAAGAGATTCTCCTGCTTCAATTTCCCAAGTAGCTGGGATTACAGGTATGAGCCACCATGCCTGGCACCCTCTTCTTGCTAAAGCCCATGAATATTTCTCCAGCCCCACCTAATTGTATCTTGCAGCAGCAGCAGGAGCTGCAGCGCCCACTTCCTCCTGTGCATGCTCTTTAACGCATGCTCTTCCTTGAGTCCCGGGCCATCAGACCCCCTGGGTTCCCTCCTCCCTCTCTGGACACTCCTCTGTCTCCTTCTCAGACTTACCTCCTGTAGGAGTCACCTAAATGCTTTTGCTCCCTAGGGCTCTATCCTGGGCCTCTTATTTCACAGGTCCCGGGACCTCATCCACTTTCCCCAAACCCCTGTCTCCCATTCAGATCTCTCTTGTGGAAGCGGGGAGAGCCACTCCCAACTGTTCTTTGGATATTTCCGCCTAAAGCACCCAAGCCCTTCAAGCTCAACAGGTCCAGAGCTGAACTGCTGATCTCCCGCCTCTCCCCAGCACCTGCTGCACGGCCTGAGTTCCAGGCAGTGGAGGCCATCACAGGCACCCAACTCCAACCTCTCCCCTGGCCCCACATCCAGTCTCCCACCAAGTCCTAATAATCCGAGTCCTAAATATCTGTGAAGTCACTCCCATCTCTAACTCCACTGCCAAAATCCACATCCAGGTGGTCATTGTCTCTTGCTTGGATTAAGGCAAACACTTCCTAATTAGTCTTCAACTCTCCCATCTGCTCTCCACTCAGCACCCCATGTGTCTAAGCCACATACTTATATGCTTAAAACCCATCCTGGTTCTGGCTGCCCTCAGGCCAACTCCATGCTTTTTGAGTGGCTGTTAACCCCTCTGCAGCAAGTAGGGCTCCTCTCTTCCCTCACCATTGTAGCCATCCCGGTCGAGGTCGCCCAGGGGTGCGATGGCAGAGCCGAATCGCCCATAGAGCTGTGTGCCAGTCAGCAGGAGGCTGGGGGCACCCAGCGCGTGGGGGCCTCGCGGCTGCAGGAACAAATACACACGCCCCACTTCGGCCAGTTTTCGGTCTGCCCGGCTCTCCATATACAGTGGAGCGCCCACCAGCAGATCATGCCTCCTGTGGGCCAGATGAGTGGTTACATGGGACTGGACCAGGGGTATATTGGGGCTAGGGCCAAATCTCCTCGACCCTTGCTCTCCTGTTCCTCCAGTGGATACGTGAGACTAGGGCTAGGAAAGGGAGACAGAGGGCAGCTCTGGTAATTTGGGACCCAACTGGGTAGGGGTGGGGCATGTCCCTCCTCACCCATCCCCGTTGACGTCAGTGACAGCCACTGAATGCCCAAAATACGACGCCATCTGCAAGATGAGGAGCACCATCATTCACGCCGCTGGACAAGCATCCTCTTTAAGAAATGGGCCCTCACCTCCCATGAAATATTCTGAAGTCTCAGTTCCCCCTCCACCCAGCCACGCCCACTGGGACCTGGCCCCCACCTGCTCTCCGCGCAGCCGATGCAGCCTCTGGTAGTAGGAATCCAAAATTTCCACCTGCACGGACAGCGCAGGCGAGAGCATCATTCTTGTACCCAAAGCAACCTCCCACTCCAGGTGAGAAAGGGTGGTTTGGTGGAGGCGGGGCGGGGGTGGGGGGCGCTCAGGAGTTGTCAGCCTGAGAACTGGGATAAGGGGCTTCGGGAGGCCCAGTGGTGGGGGCACTTACCGCTCCCAGGGTCCAGCTCCAAGTGGGGGCACCGACGACATATTCTGGCGATAGGGAGAGCCAGGCTCAGGGAATGAGAGCCTTAGAACCTACCCACTTCCCGCTCCCCGTTCTGCACCCAGGGAAAAATGTGTGTGCAGGAAGATTTCCCTACATAGGGGAGATTTCAGGAAGGCGCTCCTCCCCGGGCTGGGCTACCCAACTCCCGCCCTAAGTGGATTTCTTGCCTGTAGTGTTGAGATCCCCGTCGAACTCGCCCACGGCCACCGAGTACCCTGAGGACAAGGGCGCAAATTAGTCTTTTCCAGGGGAGGAAGCACAGAGGGGACGGAGGGCAAAGAAGGAGGAGATTAAGGCCACTCAGCCCCAGCCCTGCATTGTGCAGATGGAAAAACGGAGGCCTTCGAGGGGCCAAGCCCTGCCCCAGGCTGCGCTACGAGTCCGCAGTGGAAGGGAGCGGTGGGCGCATGGGAGGTGGGCGGTCTGCGGGGAAGCCGCAGGAGCGGAGGGCGGGAGCGGCTTAGGCGGTGGGTTGGCCGGCAGGGGTGGCCATGGAGGCTCCCACAGGGGCAGGACCTGACCGTCTGCGGTGGGCGGTGACCCTCGGGGTGCTGGAAGTCTGGAATGGCGGTGTTACCCCAGTAGCCGTCGAAGTACTCTGGGTTGCTGGAGTCAAAGGAGAGGCTCTGGGAGGACACGTGCCACAAAAGGATGCCTGGGCGGTAACTCGAGAAAATATCCGCAACTGGAGCCTGGGCCAGGAGACCTAGGGCGGGAGGGACAGCGGGTGTGAAGCCCAAAGCGGTCTCCTTGGGCCGCGAGAAGGGAGGGAGGTGTACGGATGGGCACGTACCTAAGAAATAATAGCCGCCAGGAGCCCCAAGCACCAGCTCTCCGGCCTGGAAGGGAAGTCCTGAGGGTGAGAGGGGGCCCTGTTTGGGAGCCGCCCCCACTGCGCTTTTGCTCCCTACTCGCCTGAGTGACCACGGAGCTGAAGCCCGCTTCACAGTAACGCTTGTCCCAGCCTGCAGGAGACAAGGAGGAGGGGTCAGCGCAGGGGTGAAGGGAGGCGCGCGCGAGCCCGGAGGAGGGCTGGGGGACAGGGGCGGGGCCTTGAGTCGGCGGGGCCCTGGGGCGAGGCCAGATCCAAAGCAAGGGCTGCGGCGCTGGGGGCGGGATCCGATGGGGGCGGGGCCAAGCCGTCGCGAGTGGGCGGGGCCAGGTCGTAGCTGGCGCTTACTAAAATCATTTTCCACGTAAATGCGGCTCAGGGTGTTCCCGCGACAGGGGGAGTACTCGGCGCGGCGGCCGCTCTCTGGCTGAGCCAAAAAGCAGCTACCTACGGGCGTCTTCTCAGCCTCCTCAGTCTTTTCTAGGACGTTCCAGTGCTGCCAGGGGGCGCAGGCCTGGAG
AGCCCCTTTTAAAATTTTTTTATTTTTAAGACAGTCTTGCACTGTCATTCAGGCTGAAGTGCAGTGGTGCAACCATGGCTTACTGCAGCCTCAACCTTCTGGACTAAAGCAATCCTCCCACCTCAGCTTCCCAAGCAGTTGAGACTATAGCCACCATGCCCAGCTAATTTTTAAAAATTTTTATGGAGACGAGATCTCCCTATGTTGGCCAGGCTGGTGTCAAACTCCTAGGCTCCAGTGATCCTCCTGCCTCGGCCTCCCAAAGTGCTGGGATTCCAGGTGTGAGCCACCGTGCCTGGCCATCTAGCATCTATTTCTAGCCTTCTCCATTCCATCAAACTCCCAGACCCCCCACACTTCCTTCAGCAGGTGACGTAATCTCTTACTTCAGGAAGAGAGGCAGCCCACTGTTATGCTATAATCCCACACCAACTTTCTTTTCCCTTTCCCCATTTGACCCTGGAAGAGGTTTCCTTCCTTCACCCTGACACTGGGCCAGTCACCCTCCCACCCCCTGAGGCATCACAGGGACTCTCTGCTGGCTCATCCCCCCATTTCCCCACAACATCATTTTCAACCTACTACATGTTCTTCCACATTGAAATAATCTTCCCTTGACCCTCATCTCTTTTCTGTGATCACCTTTTCTCTTTTTCCTCTTATAGTCAAACATGTTTTTTTTTTTCCTTTCTATTCCTCAAATTCCTTTTTACCACAAACCTGTTGAAAGAGCTGTCTACATTAGCTGCATCCAATTTTTCATCTCCATTCATACCTTACCCCATTGCATTCTGGCTTCTGACCCTATCTTGGCCTGAATCAATTTATGTCACTGTCACCAATAACCTCCCCTTCTTTTTTCTTTCTTCCTTTCTTTCTCTATTTTTTTTTTTATTTTGTTGAGATGGAGTCTTGCTCTGTCACCCAGGCTGGAGTGCAGTAGTGGCGCAAGCTCAGCTCAGTGCAACCTCCACTTCCCGGGTTCAAGAGATTCTCCTGCTTCAATTTCCCAAGTAGCTGGGATTACAGGTATGAGCCACCATGCCTGGCACCCTCTTCTTGCTAAAGCCCATGAATATTTCTCCAGCCCCACCTAATTGTATCTTGCAGCAGCAGCAGGAGCTGCAGCGCCCACTTCCTCCTGTGCATGCTCTTTAACGCATGCTCTTCCTTGAGTCCCGGGCCATCAGACCCCCTGGGTTCCCTCCTCCCTCTCTGGACACTCCTCTGTCTCCTTCTCAGACTTACCTCCTGTAGGAGTCACCTAAATGCTTTTGCTCCCTAGGGCTCTATCCTGGGCCTCTTATTTCACAGGTCCCGGGACCTCATCCACTTTCCCCAAACCCCTGTCTCCCATTCAGATCTCTCTTGTGGAAGCGGGGAGAGCCACTCCCAACTGTTCTTTGGATATTTCCGCCTAAAGCACCCAAGCCCTTCAAGCTCAACAGGTCCAGAGCTGAACTGCTGATCTCCCGCCTCTCCCCAGCACCTGCTGCACGGCCTGAGTTCCAGGCAGTGGAGGCCATCACAGGCACCCAACTCCAACCTCTCCCCTGGCCCCACATCCAGTCTCCCACCAAGTCCTAATAATCCGAGTCCTAAATATCTGTGAAGTCACTCCCATCTCTAACTCCACTGCCAAAATCCACATCCAGGTGGTCATTGTCTCTTGCTTGGATTAAGGCAAACACTTCCTAATTAGTCTTCAACTCTCCCATCTGCTCTCCACTCAGCACCCCATGTGTCTAAGCCACATACTTATATGCTTAAAACCCATCCTGGTTCTGGCTGCCCTCAGGCCAACTCCATGCTTTTTGAGTGGCTGTTAACCCCTCTGCAGCAAGTAGGGCTCCTCTCTTCCCTCACCATTGTAGCCATCCCGGTCGAGGTCGCCCAGGGGTGCGATGGCAGAGCCGAATCGCCCATAGAGCTGTGTGCCAGTCAGCAGGAGGCTGGGGGCACCCAGCGCGTGGGGGCCTCGCGGCTGCAGGAACAAATACACACGCCCCACTTCGGCCAGTTTTCGGTCTGCCCGGCTCTCCATATACGGTGGAGCGCCCACCAGCAGATCATGCCTCCTGTGGGCCAGATGAGTGGTTACATGGGACTGGACCAGGGGTATATTGGGGCTAGGGCCAAATCTCCTCGACCCTTGCTCTCCTGTTCCTCCAGTGGATACGTGAGACTAGGGCTAGGAAAGGGAGACAGAGGGCAGCTCTGGTAATTTGGGACCCAACTGGGTAGGGGTGGGGCATGTCCCTCCTCACCCATCCCCGTTGACGTCAGTGACAGCCACTGAATGCCCAAAATACGACGCCATCTGCAAGATGAGGAGCACCATCATTCACGCCGCTGGACAAGCATCCTCTTTAAGAAATGGGCCCTCACCTCCCATGAAATATTCTGAAGTCTCAGTTCCCCCTCCACCCAGCCACGCCCACTGGGACCTGGCCCCCACCTGCTCTCCGCGCAGCCGATGCAGCCTCTGGTAGTAGGAATCCAAAATTTCCACCTGCACGGACAGCGCAGGCGAGAGCATCATTCTTGTACCCAAAGCAACCTCCCACTCCAGGTGAGAAAGGGTGGTTTGGTGGAGGCGGGGCGGGGGTGGGGGGCGCTCAGGAGTTGTCAGCCTGAGAACTGGGATAAGGGGCTTCGGGAGGCCCAGTGGTGGGGGCACTTACCGCTCCCAGGGTCCAGCTCCAAGTGGGGGCACCGACGACATATTCTGGCGATAGGGAGAGCCAGGCTCAGGGAATGAGAGCCTTAGAACCTACCCACTTCCCGCTCCCCGTTCTGCACCCAGGGAAAAATGTGTGTGCAGGAAGATTTCCCTACATAGGGGAGATTTCAGGAAGGCGCTCCTCCCCGGGCTGGGCTACCCAACTCCCGCCCTAAGTGGATTTCTTGCCTGTAGTGTTGAGATCCCCGTCGAACTCGCCCACGGCCACCGAGTACCCTGAGGACAAGGGCGCAAATTAGTCTTTTCCAGGGGAGGAAGCACAGAGGGGACGGAGGGCAAAGAAGGAGGAGATTAAGGCCACTCAGCCCCAGCCCTGCATTGTGCAGATGGAAAAACGGAGGCCTTCGAGGGGCCAAGCCCTGCCCCAGGCTGCGCTACGAGTCCGCAGTGGAAGGGAGCGGTGGGCGCATGGGAGGTGGGCGGTCTGCGGGGAAGCCGCAGGAGCGGAGGGCGGGAGCGGCTTAGGCGGTGGGTTGGCCGGCAGGGGTGGCCATGGAGGCTCCCACAGGGGCAGGACCTGACCGTCTGCGGTGGGCGGTGACCCTCGGGGTGCTGGAAGTCTGGAATGGCGGTGTTACCCCAGTAGCCGTCGAAGTACTCTGGGTTGCTGGAGTCAAAGGAGAGGCTCTGGGAGGACACGTGCCACAAAAGGATGCCTGGGCGGTAACTCGAGAAAATATCCGCAACTGGAGCCTGGGCCAGGAGACCTAGGGCGGGAGGGACAGCGGGTGTGAAGCCCAAAGCGGTCTCCTTGGGCCGCGAGAAGGGAGGGAGGTGTACGGATGGGCACGTACCTAAGAAATAATAGCCGCCAGGAGCCCCAAGCACCAGCTCTCCGGCCTGGAAGGGAAGTCCTGAGGGTGAGAGGGGGCCCTGTTTGGGAGCCGCCCCCACTGCGCTTTTGCTCCCTACTCGCCTGAGTGACCACGGAGCTGAAGCCCGCTTCACAGTAACGCTTGTCCCAGCCTGCAGGAGACAAGGAGGAGGGGTCAGCGCAGGGGTGAAGGGAGGCGCGCGCGAGCCCGGAGGAGGGCTGGGGGACAGGGGCGGGGCCTTGAGTCGGCGGGGCCCTGGGGCGAGGCCAGATCCAAAGCAAGGGCTGCGGCGCTGGGGGCGGGATCCGATGGGGGCGGGGCCAAGCCGTCGCGAGTGGGCGGGGCCAGGTCGTAGCTGGCGCTTACTAAAATCATTTTCCACGTAAATGCGGCTCAGGGTGTTCCCGCGACAGGGGGAGTACTCGGCGCGGCGGCCGCTCTCTGGCTGAGCCAAAAAGCAGCTACCTACGGGCGTCTTCTCAGCCTCCTCAGTCTTTTCTAGGACGTTCCAGTGCTGCCAGGGGGCGCAGGCCTGGAG
Task1_train_24735
A mutation on Chromosome 17 affecting ITGA2B (integrin subunit alpha 2b) has been found. Is it harmful or harmless? What disease, if any, does it cause?
Pathogenic; Glanzmann thrombasthenia
GAGGCCATCACAGGCACCCAACTCCAACCTCTCCCCTGGCCCCACATCCAGTCTCCCACCAAGTCCTAATAATCCGAGTCCTAAATATCTGTGAAGTCACTCCCATCTCTAACTCCACTGCCAAAATCCACATCCAGGTGGTCATTGTCTCTTGCTTGGATTAAGGCAAACACTTCCTAATTAGTCTTCAACTCTCCCATCTGCTCTCCACTCAGCACCCCATGTGTCTAAGCCACATACTTATATGCTTAAAACCCATCCTGGTTCTGGCTGCCCTCAGGCCAACTCCATGCTTTTTGAGTGGCTGTTAACCCCTCTGCAGCAAGTAGGGCTCCTCTCTTCCCTCACCATTGTAGCCATCCCGGTCGAGGTCGCCCAGGGGTGCGATGGCAGAGCCGAATCGCCCATAGAGCTGTGTGCCAGTCAGCAGGAGGCTGGGGGCACCCAGCGCGTGGGGGCCTCGCGGCTGCAGGAACAAATACACACGCCCCACTTCGGCCAGTTTTCGGTCTGCCCGGCTCTCCATATACAGTGGAGCGCCCACCAGCAGATCATGCCTCCTGTGGGCCAGATGAGTGGTTACATGGGACTGGACCAGGGGTATATTGGGGCTAGGGCCAAATCTCCTCGACCCTTGCTCTCCTGTTCCTCCAGTGGATACGTGAGACTAGGGCTAGGAAAGGGAGACAGAGGGCAGCTCTGGTAATTTGGGACCCAACTGGGTAGGGGTGGGGCATGTCCCTCCTCACCCATCCCCGTTGACGTCAGTGACAGCCACTGAATGCCCAAAATACGACGCCATCTGCAAGATGAGGAGCACCATCATTCACGCCGCTGGACAAGCATCCTCTTTAAGAAATGGGCCCTCACCTCCCATGAAATATTCTGAAGTCTCAGTTCCCCCTCCACCCAGCCACGCCCACTGGGACCTGGCCCCCACCTGCTCTCCGCGCAGCCGATGCAGCCTCTGGTAGTAGGAATCCAAAATTTCCACCTGCACGGACAGCGCAGGCGAGAGCATCATTCTTGTACCCAAAGCAACCTCCCACTCCAGGTGAGAAAGGGTGGTTTGGTGGAGGCGGGGCGGGGGTGGGGGGCGCTCAGGAGTTGTCAGCCTGAGAACTGGGATAAGGGGCTTCGGGAGGCCCAGTGGTGGGGGCACTTACCGCTCCCAGGGTCCAGCTCCAAGTGGGGGCACCGACGACATATTCTGGCGATAGGGAGAGCCAGGCTCAGGGAATGAGAGCCTTAGAACCTACCCACTTCCCGCTCCCCGTTCTGCACCCAGGGAAAAATGTGTGTGCAGGAAGATTTCCCTACATAGGGGAGATTTCAGGAAGGCGCTCCTCCCCGGGCTGGGCTACCCAACTCCCGCCCTAAGTGGATTTCTTGCCTGTAGTGTTGAGATCCCCGTCGAACTCGCCCACGGCCACCGAGTACCCTGAGGACAAGGGCGCAAATTAGTCTTTTCCAGGGGAGGAAGCACAGAGGGGACGGAGGGCAAAGAAGGAGGAGATTAAGGCCACTCAGCCCCAGCCCTGCATTGTGCAGATGGAAAAACGGAGGCCTTCGAGGGGCCAAGCCCTGCCCCAGGCTGCGCTACGAGTCCGCAGTGGAAGGGAGCGGTGGGCGCATGGGAGGTGGGCGGTCTGCGGGGAAGCCGCAGGAGCGGAGGGCGGGAGCGGCTTAGGCGGTGGGTTGGCCGGCAGGGGTGGCCATGGAGGCTCCCACAGGGGCAGGACCTGACCGTCTGCGGTGGGCGGTGACCCTCGGGGTGCTGGAAGTCTGGAATGGCGGTGTTACCCCAGTAGCCGTCGAAGTACTCTGGGTTGCTGGAGTCAAAGGAGAGGCTCTGGGAGGACACGTGCCACAAAAGGATGCCTGGGCGGTAACTCGAGAAAATATCCGCAACTGGAGCCTGGGCCAGGAGACCTAGGGCGGGAGGGACAGCGGGTGTGAAGCCCAAAGCGGTCTCCTTGGGCCGCGAGAAGGGAGGGAGGTGTACGGATGGGCACGTACCTAAGAAATAATAGCCGCCAGGAGCCCCAAGCACCAGCTCTCCGGCCTGGAAGGGAAGTCCTGAGGGTGAGAGGGGGCCCTGTTTGGGAGCCGCCCCCACTGCGCTTTTGCTCCCTACTCGCCTGAGTGACCACGGAGCTGAAGCCCGCTTCACAGTAACGCTTGTCCCAGCCTGCAGGAGACAAGGAGGAGGGGTCAGCGCAGGGGTGAAGGGAGGCGCGCGCGAGCCCGGAGGAGGGCTGGGGGACAGGGGCGGGGCCTTGAGTCGGCGGGGCCCTGGGGCGAGGCCAGATCCAAAGCAAGGGCTGCGGCGCTGGGGGCGGGATCCGATGGGGGCGGGGCCAAGCCGTCGCGAGTGGGCGGGGCCAGGTCGTAGCTGGCGCTTACTAAAATCATTTTCCACGTAAATGCGGCTCAGGGTGTTCCCGCGACAGGGGGAGTACTCGGCGCGGCGGCCGCTCTCTGGCTGAGCCAAAAAGCAGCTACCTACGGGCGTCTTCTCAGCCTCCTCAGTCTTTTCTAGGACGTTCCAGTGCTGCCAGGGGGCGCAGGCCTGGAGAAAGGCCACAGGAGTGGGGACGGGCGCGAGACTTGGGCTCCTCCTGGCCCCAGGTGTCCCTGCCCCCGATTGTTCCCTGTGCCCTGTACCGCGGGGCCCACCACAATGACGTCGCTCCAGCTGACGACCGACGCCCCCAGTCCTTGGCGGGCCTTGAAGGTTTGTAAAGTTTGGGAGCCTACATTTCGGGTCTCATCACCTGGAAGGCACAAGAAGGGGTGGGGCGCTGAAGCCCGGCAGTCCACGTCCCTCTGACCCCAACCTTGCTCTCCTTGCCTGGGACTCACGGAGGTCAAAGAGCAGCGAGGGGCACTGGCCGCCCTCGGCCCTCCAGGGGCACAGGAACACGCCGCCCGTCTCCTCCTGGCTGGGGCCCAGGGTCCGCGGGGCGCCCACCACGATGGCCACTCTGCATAGGAAAGCTGGGTGAGCGCCGCGCAGATTCCAGCGTATCCCAGGCCCTGGCGCCGGCGCTGGGAGCACTGCCCGGAAGGCCATGTGGCATGGGGGCACTGGACCATCTTTCCTCAATGACACCTCACAGACCACCGTGATGTACTTCTTCATCTTATGGACAGTGAAACCGACTCTCAGCGAGGGCAATCACGTGGCTAAAGTAACCCAGTGAGTTGAGAGTAGAGCTGGGACTATAACCATTTGGTTTGATTTGAACACCAGGGGTTTGAGATCTTTGCTGAAAAAGACCTAAACTCTGTACAACACCTCCATCCTTCCACCCGCAACAAGAACCAGCGGTTCACATGCTCCCTGGAATGCCTGCCTAGACTGTTACCAGATCCCCTCTTGAGAGCTGGTTTTAATGAGGGAAGGTAGCGGGTACCTCTAAAGTGGGGCTGGAGTGTGTGTGCTGATAGGAGGACCCTAGCAGATCTAGGTTTAAATCACAATTCTGCCATATGTGAAATAGGAATACCAATTTCATAACCAATGACTGGTTTTCACAACCAGTCAATGCTGTCAGGAGTAAATGTAATAAATACGAGTAACGGTTAGCATGGTCCCAGCCAAATACATAACAAACGCTCTTGAAACAATGCTATAATTTTAAAAAATAATTTTGTTGTTTTGAGACAGGGTCTCATTCTGTTGCCCAGCTGGAGTGCAGCAGCATGATCACAGCTCACTGTAGCCTTGATCTCCAGGGCTCAAGCAATCCTCTCCCCTCAGCCACCCTAGTAGCTGGGACTGCGGGTGTGCAACACCATGCCTGGCTAATTAAAAAAAATTTTTTTATAGGCTGGGCATGGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCCAAGGGATTACAGGCGTGAGCCTCTGTGTCTGGCCCATAATATTTTTTTAGCCTGCAGGATGTTTAAGTAGTGCCAATGGGATCACTACTTATAGGAGGGGAAATCAGCAGGAGTGGGCACAGGAAGGAGTTGAGCTGATTCAGGCCCAATGACAGCATTCGCCAACACCCCACGAGCTTTGGAACTAGAATGACCCTTCAAAATTGTCAGAGTT
GAGGCCATCACAGGCACCCAACTCCAACCTCTCCCCTGGCCCCACATCCAGTCTCCCACCAAGTCCTAATAATCCGAGTCCTAAATATCTGTGAAGTCACTCCCATCTCTAACTCCACTGCCAAAATCCACATCCAGGTGGTCATTGTCTCTTGCTTGGATTAAGGCAAACACTTCCTAATTAGTCTTCAACTCTCCCATCTGCTCTCCACTCAGCACCCCATGTGTCTAAGCCACATACTTATATGCTTAAAACCCATCCTGGTTCTGGCTGCCCTCAGGCCAACTCCATGCTTTTTGAGTGGCTGTTAACCCCTCTGCAGCAAGTAGGGCTCCTCTCTTCCCTCACCATTGTAGCCATCCCGGTCGAGGTCGCCCAGGGGTGCGATGGCAGAGCCGAATCGCCCATAGAGCTGTGTGCCAGTCAGCAGGAGGCTGGGGGCACCCAGCGCGTGGGGGCCTCGCGGCTGCAGGAACAAATACACACGCCCCACTTCGGCCAGTTTTCGGTCTGCCCGGCTCTCCATATACAGTGGAGCGCCCACCAGCAGATCATGCCTCCTGTGGGCCAGATGAGTGGTTACATGGGACTGGACCAGGGGTATATTGGGGCTAGGGCCAAATCTCCTCGACCCTTGCTCTCCTGTTCCTCCAGTGGATACGTGAGACTAGGGCTAGGAAAGGGAGACAGAGGGCAGCTCTGGTAATTTGGGACCCAACTGGGTAGGGGTGGGGCATGTCCCTCCTCACCCATCCCCGTTGACGTCAGTGACAGCCACTGAATGCCCAAAATACGACGCCATCTGCAAGATGAGGAGCACCATCATTCACGCCGCTGGACAAGCATCCTCTTTAAGAAATGGGCCCTCACCTCCCATGAAATATTCTGAAGTCTCAGTTCCCCCTCCACCCAGCCACGCCCACTGGGACCTGGCCCCCACCTGCTCTCCGCGCAGCCGATGCAGCCTCTGGTAGTAGGAATCCAAAATTTCCACCTGCACGGACAGCGCAGGCGAGAGCATCATTCTTGTACCCAAAGCAACCTCCCACTCCAGGTGAGAAAGGGTGGTTTGGTGGAGGCGGGGCGGGGGTGGGGGGCGCTCAGGAGTTGTCAGCCTGAGAACTGGGATAAGGGGCTTCGGGAGGCCCAGTGGTGGGGGCACTTACCGCTCCCAGGGTCCAGCTCCAAGTGGGGGCACCGACGACATATTCTGGCGATAGGGAGAGCCAGGCTCAGGGAATGAGAGCCTTAGAACCTACCCACTTCCCGCTCCCCGTTCTGCACCCAGGGAAAAATGTGTGTGCAGGAAGATTTCCCTACATAGGGGAGATTTCAGGAAGGCGCTCCTCCCCGGGCTGGGCTACCCAACTCCCGCCCTAAGTGGATTTCTTGCCTGTAGTGTTGAGATCCCCGTCGAACTCGCCCACGGCCACCGAGTACCCTGAGGACAAGGGCGCAAATTAGTCTTTTCCAGGGGAGGAAGCACAGAGGGGACGGAGGGCAAAGAAGGAGGAGATTAAGGCCACTCAGCCCCAGCCCTGCATTGTGCAGATGGAAAAACGGAGGCCTTCGAGGGGCCAAGCCCTGCCCCAGGCTGCGCTACGAGTCCGCAGTGGAAGGGAGCGGTGGGCGCATGGGAGGTGGGCGGTCTGCGGGGAAGCCGCAGGAGCGGAGGGCGGGAGCGGCTTAGGCGGTGGGTTGGCCGGCAGGGGTGGCCATGGAGGCTCCCACAGGGGCAGGACCTGACCGTCTGCGGTGGGCGGTGACCCTCGGGGTGCTGGAAGTCTGGAATGGCGGTGTTACCCCAGTAGCCGTCGAAGTACTCTGGGTTGCTGGAGTCAAAGGAGAGGCTCTGGGAGGACACGTGCCACAAAAGGATGCCTGGGCGGTAACTCGAGAAAATATCCGCAACTGGAGCCTGGGCCAGGAGACCTAGGGCGGGAGGGACAGCGGGTGTGAAGCCCAAAGCGGTCTCCTTGGGCCGCGAGAAGGGAGGGAGGTGTACGGATGGGCACGTACCTAAGAAATAATAGCCGCCAGGAGCCCCAGGCACCAGCTCTCCGGCCTGGAAGGGAAGTCCTGAGGGTGAGAGGGGGCCCTGTTTGGGAGCCGCCCCCACTGCGCTTTTGCTCCCTACTCGCCTGAGTGACCACGGAGCTGAAGCCCGCTTCACAGTAACGCTTGTCCCAGCCTGCAGGAGACAAGGAGGAGGGGTCAGCGCAGGGGTGAAGGGAGGCGCGCGCGAGCCCGGAGGAGGGCTGGGGGACAGGGGCGGGGCCTTGAGTCGGCGGGGCCCTGGGGCGAGGCCAGATCCAAAGCAAGGGCTGCGGCGCTGGGGGCGGGATCCGATGGGGGCGGGGCCAAGCCGTCGCGAGTGGGCGGGGCCAGGTCGTAGCTGGCGCTTACTAAAATCATTTTCCACGTAAATGCGGCTCAGGGTGTTCCCGCGACAGGGGGAGTACTCGGCGCGGCGGCCGCTCTCTGGCTGAGCCAAAAAGCAGCTACCTACGGGCGTCTTCTCAGCCTCCTCAGTCTTTTCTAGGACGTTCCAGTGCTGCCAGGGGGCGCAGGCCTGGAGAAAGGCCACAGGAGTGGGGACGGGCGCGAGACTTGGGCTCCTCCTGGCCCCAGGTGTCCCTGCCCCCGATTGTTCCCTGTGCCCTGTACCGCGGGGCCCACCACAATGACGTCGCTCCAGCTGACGACCGACGCCCCCAGTCCTTGGCGGGCCTTGAAGGTTTGTAAAGTTTGGGAGCCTACATTTCGGGTCTCATCACCTGGAAGGCACAAGAAGGGGTGGGGCGCTGAAGCCCGGCAGTCCACGTCCCTCTGACCCCAACCTTGCTCTCCTTGCCTGGGACTCACGGAGGTCAAAGAGCAGCGAGGGGCACTGGCCGCCCTCGGCCCTCCAGGGGCACAGGAACACGCCGCCCGTCTCCTCCTGGCTGGGGCCCAGGGTCCGCGGGGCGCCCACCACGATGGCCACTCTGCATAGGAAAGCTGGGTGAGCGCCGCGCAGATTCCAGCGTATCCCAGGCCCTGGCGCCGGCGCTGGGAGCACTGCCCGGAAGGCCATGTGGCATGGGGGCACTGGACCATCTTTCCTCAATGACACCTCACAGACCACCGTGATGTACTTCTTCATCTTATGGACAGTGAAACCGACTCTCAGCGAGGGCAATCACGTGGCTAAAGTAACCCAGTGAGTTGAGAGTAGAGCTGGGACTATAACCATTTGGTTTGATTTGAACACCAGGGGTTTGAGATCTTTGCTGAAAAAGACCTAAACTCTGTACAACACCTCCATCCTTCCACCCGCAACAAGAACCAGCGGTTCACATGCTCCCTGGAATGCCTGCCTAGACTGTTACCAGATCCCCTCTTGAGAGCTGGTTTTAATGAGGGAAGGTAGCGGGTACCTCTAAAGTGGGGCTGGAGTGTGTGTGCTGATAGGAGGACCCTAGCAGATCTAGGTTTAAATCACAATTCTGCCATATGTGAAATAGGAATACCAATTTCATAACCAATGACTGGTTTTCACAACCAGTCAATGCTGTCAGGAGTAAATGTAATAAATACGAGTAACGGTTAGCATGGTCCCAGCCAAATACATAACAAACGCTCTTGAAACAATGCTATAATTTTAAAAAATAATTTTGTTGTTTTGAGACAGGGTCTCATTCTGTTGCCCAGCTGGAGTGCAGCAGCATGATCACAGCTCACTGTAGCCTTGATCTCCAGGGCTCAAGCAATCCTCTCCCCTCAGCCACCCTAGTAGCTGGGACTGCGGGTGTGCAACACCATGCCTGGCTAATTAAAAAAAATTTTTTTATAGGCTGGGCATGGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCCAAGGGATTACAGGCGTGAGCCTCTGTGTCTGGCCCATAATATTTTTTTAGCCTGCAGGATGTTTAAGTAGTGCCAATGGGATCACTACTTATAGGAGGGGAAATCAGCAGGAGTGGGCACAGGAAGGAGTTGAGCTGATTCAGGCCCAATGACAGCATTCGCCAACACCCCACGAGCTTTGGAACTAGAATGACCCTTCAAAATTGTCAGAGTT
Task1_train_24736
This variant lies on Chromosome 17 and affects the gene ITGA2B (integrin subunit alpha 2b). Based on this context, is the mutation pathogenic or benign? If pathogenic, what disease does it cause?
Pathogenic; Glanzmann thrombasthenia
ATAGAGCTGTGTGCCAGTCAGCAGGAGGCTGGGGGCACCCAGCGCGTGGGGGCCTCGCGGCTGCAGGAACAAATACACACGCCCCACTTCGGCCAGTTTTCGGTCTGCCCGGCTCTCCATATACAGTGGAGCGCCCACCAGCAGATCATGCCTCCTGTGGGCCAGATGAGTGGTTACATGGGACTGGACCAGGGGTATATTGGGGCTAGGGCCAAATCTCCTCGACCCTTGCTCTCCTGTTCCTCCAGTGGATACGTGAGACTAGGGCTAGGAAAGGGAGACAGAGGGCAGCTCTGGTAATTTGGGACCCAACTGGGTAGGGGTGGGGCATGTCCCTCCTCACCCATCCCCGTTGACGTCAGTGACAGCCACTGAATGCCCAAAATACGACGCCATCTGCAAGATGAGGAGCACCATCATTCACGCCGCTGGACAAGCATCCTCTTTAAGAAATGGGCCCTCACCTCCCATGAAATATTCTGAAGTCTCAGTTCCCCCTCCACCCAGCCACGCCCACTGGGACCTGGCCCCCACCTGCTCTCCGCGCAGCCGATGCAGCCTCTGGTAGTAGGAATCCAAAATTTCCACCTGCACGGACAGCGCAGGCGAGAGCATCATTCTTGTACCCAAAGCAACCTCCCACTCCAGGTGAGAAAGGGTGGTTTGGTGGAGGCGGGGCGGGGGTGGGGGGCGCTCAGGAGTTGTCAGCCTGAGAACTGGGATAAGGGGCTTCGGGAGGCCCAGTGGTGGGGGCACTTACCGCTCCCAGGGTCCAGCTCCAAGTGGGGGCACCGACGACATATTCTGGCGATAGGGAGAGCCAGGCTCAGGGAATGAGAGCCTTAGAACCTACCCACTTCCCGCTCCCCGTTCTGCACCCAGGGAAAAATGTGTGTGCAGGAAGATTTCCCTACATAGGGGAGATTTCAGGAAGGCGCTCCTCCCCGGGCTGGGCTACCCAACTCCCGCCCTAAGTGGATTTCTTGCCTGTAGTGTTGAGATCCCCGTCGAACTCGCCCACGGCCACCGAGTACCCTGAGGACAAGGGCGCAAATTAGTCTTTTCCAGGGGAGGAAGCACAGAGGGGACGGAGGGCAAAGAAGGAGGAGATTAAGGCCACTCAGCCCCAGCCCTGCATTGTGCAGATGGAAAAACGGAGGCCTTCGAGGGGCCAAGCCCTGCCCCAGGCTGCGCTACGAGTCCGCAGTGGAAGGGAGCGGTGGGCGCATGGGAGGTGGGCGGTCTGCGGGGAAGCCGCAGGAGCGGAGGGCGGGAGCGGCTTAGGCGGTGGGTTGGCCGGCAGGGGTGGCCATGGAGGCTCCCACAGGGGCAGGACCTGACCGTCTGCGGTGGGCGGTGACCCTCGGGGTGCTGGAAGTCTGGAATGGCGGTGTTACCCCAGTAGCCGTCGAAGTACTCTGGGTTGCTGGAGTCAAAGGAGAGGCTCTGGGAGGACACGTGCCACAAAAGGATGCCTGGGCGGTAACTCGAGAAAATATCCGCAACTGGAGCCTGGGCCAGGAGACCTAGGGCGGGAGGGACAGCGGGTGTGAAGCCCAAAGCGGTCTCCTTGGGCCGCGAGAAGGGAGGGAGGTGTACGGATGGGCACGTACCTAAGAAATAATAGCCGCCAGGAGCCCCAAGCACCAGCTCTCCGGCCTGGAAGGGAAGTCCTGAGGGTGAGAGGGGGCCCTGTTTGGGAGCCGCCCCCACTGCGCTTTTGCTCCCTACTCGCCTGAGTGACCACGGAGCTGAAGCCCGCTTCACAGTAACGCTTGTCCCAGCCTGCAGGAGACAAGGAGGAGGGGTCAGCGCAGGGGTGAAGGGAGGCGCGCGCGAGCCCGGAGGAGGGCTGGGGGACAGGGGCGGGGCCTTGAGTCGGCGGGGCCCTGGGGCGAGGCCAGATCCAAAGCAAGGGCTGCGGCGCTGGGGGCGGGATCCGATGGGGGCGGGGCCAAGCCGTCGCGAGTGGGCGGGGCCAGGTCGTAGCTGGCGCTTACTAAAATCATTTTCCACGTAAATGCGGCTCAGGGTGTTCCCGCGACAGGGGGAGTACTCGGCGCGGCGGCCGCTCTCTGGCTGAGCCAAAAAGCAGCTACCTACGGGCGTCTTCTCAGCCTCCTCAGTCTTTTCTAGGACGTTCCAGTGCTGCCAGGGGGCGCAGGCCTGGAGAAAGGCCACAGGAGTGGGGACGGGCGCGAGACTTGGGCTCCTCCTGGCCCCAGGTGTCCCTGCCCCCGATTGTTCCCTGTGCCCTGTACCGCGGGGCCCACCACAATGACGTCGCTCCAGCTGACGACCGACGCCCCCAGTCCTTGGCGGGCCTTGAAGGTTTGTAAAGTTTGGGAGCCTACATTTCGGGTCTCATCACCTGGAAGGCACAAGAAGGGGTGGGGCGCTGAAGCCCGGCAGTCCACGTCCCTCTGACCCCAACCTTGCTCTCCTTGCCTGGGACTCACGGAGGTCAAAGAGCAGCGAGGGGCACTGGCCGCCCTCGGCCCTCCAGGGGCACAGGAACACGCCGCCCGTCTCCTCCTGGCTGGGGCCCAGGGTCCGCGGGGCGCCCACCACGATGGCCACTCTGCATAGGAAAGCTGGGTGAGCGCCGCGCAGATTCCAGCGTATCCCAGGCCCTGGCGCCGGCGCTGGGAGCACTGCCCGGAAGGCCATGTGGCATGGGGGCACTGGACCATCTTTCCTCAATGACACCTCACAGACCACCGTGATGTACTTCTTCATCTTATGGACAGTGAAACCGACTCTCAGCGAGGGCAATCACGTGGCTAAAGTAACCCAGTGAGTTGAGAGTAGAGCTGGGACTATAACCATTTGGTTTGATTTGAACACCAGGGGTTTGAGATCTTTGCTGAAAAAGACCTAAACTCTGTACAACACCTCCATCCTTCCACCCGCAACAAGAACCAGCGGTTCACATGCTCCCTGGAATGCCTGCCTAGACTGTTACCAGATCCCCTCTTGAGAGCTGGTTTTAATGAGGGAAGGTAGCGGGTACCTCTAAAGTGGGGCTGGAGTGTGTGTGCTGATAGGAGGACCCTAGCAGATCTAGGTTTAAATCACAATTCTGCCATATGTGAAATAGGAATACCAATTTCATAACCAATGACTGGTTTTCACAACCAGTCAATGCTGTCAGGAGTAAATGTAATAAATACGAGTAACGGTTAGCATGGTCCCAGCCAAATACATAACAAACGCTCTTGAAACAATGCTATAATTTTAAAAAATAATTTTGTTGTTTTGAGACAGGGTCTCATTCTGTTGCCCAGCTGGAGTGCAGCAGCATGATCACAGCTCACTGTAGCCTTGATCTCCAGGGCTCAAGCAATCCTCTCCCCTCAGCCACCCTAGTAGCTGGGACTGCGGGTGTGCAACACCATGCCTGGCTAATTAAAAAAAATTTTTTTATAGGCTGGGCATGGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCCAAGGGATTACAGGCGTGAGCCTCTGTGTCTGGCCCATAATATTTTTTTAGCCTGCAGGATGTTTAAGTAGTGCCAATGGGATCACTACTTATAGGAGGGGAAATCAGCAGGAGTGGGCACAGGAAGGAGTTGAGCTGATTCAGGCCCAATGACAGCATTCGCCAACACCCCACGAGCTTTGGAACTAGAATGACCCTTCAAAATTGTCAGAGTTGGCCGGGTGTGGTGGCTCACGCCTGTAATCCCAGTACTTTGGGAGGCCGAGGCAGGCTGATCACCTGAGGTCAGGAGTTTGAGACCAGCCTGGCCAACATAGTGAAACCCTGTCTCTACTAAAAATACAAAAATTAGCCGGGCATGGTGGCATGCACCTGTAATCCCAGCTACTCGGGAGGCTGAGACAGGAGAATCGTTTGAACCCAGGAGGCAGAGGTTGCAGTGAGCCGAGATCACCCCATTGCACTCCAGCCTGGGCAACGAGAGCGAAACTCCATCTCAAAAAAAAAGAAGAAAAAAAGTCTGGGCATGGTGGCTGAAGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGCGGGTGGATCACCTGAAGTTGGGAGTTCGAGACCACCCTGACCAACATGGA
ATAGAGCTGTGTGCCAGTCAGCAGGAGGCTGGGGGCACCCAGCGCGTGGGGGCCTCGCGGCTGCAGGAACAAATACACACGCCCCACTTCGGCCAGTTTTCGGTCTGCCCGGCTCTCCATATACAGTGGAGCGCCCACCAGCAGATCATGCCTCCTGTGGGCCAGATGAGTGGTTACATGGGACTGGACCAGGGGTATATTGGGGCTAGGGCCAAATCTCCTCGACCCTTGCTCTCCTGTTCCTCCAGTGGATACGTGAGACTAGGGCTAGGAAAGGGAGACAGAGGGCAGCTCTGGTAATTTGGGACCCAACTGGGTAGGGGTGGGGCATGTCCCTCCTCACCCATCCCCGTTGACGTCAGTGACAGCCACTGAATGCCCAAAATACGACGCCATCTGCAAGATGAGGAGCACCATCATTCACGCCGCTGGACAAGCATCCTCTTTAAGAAATGGGCCCTCACCTCCCATGAAATATTCTGAAGTCTCAGTTCCCCCTCCACCCAGCCACGCCCACTGGGACCTGGCCCCCACCTGCTCTCCGCGCAGCCGATGCAGCCTCTGGTAGTAGGAATCCAAAATTTCCACCTGCACGGACAGCGCAGGCGAGAGCATCATTCTTGTACCCAAAGCAACCTCCCACTCCAGGTGAGAAAGGGTGGTTTGGTGGAGGCGGGGCGGGGGTGGGGGGCGCTCAGGAGTTGTCAGCCTGAGAACTGGGATAAGGGGCTTCGGGAGGCCCAGTGGTGGGGGCACTTACCGCTCCCAGGGTCCAGCTCCAAGTGGGGGCACCGACGACATATTCTGGCGATAGGGAGAGCCAGGCTCAGGGAATGAGAGCCTTAGAACCTACCCACTTCCCGCTCCCCGTTCTGCACCCAGGGAAAAATGTGTGTGCAGGAAGATTTCCCTACATAGGGGAGATTTCAGGAAGGCGCTCCTCCCCGGGCTGGGCTACCCAACTCCCGCCCTAAGTGGATTTCTTGCCTGTAGTGTTGAGATCCCCGTCGAACTCGCCCACGGCCACCGAGTACCCTGAGGACAAGGGCGCAAATTAGTCTTTTCCAGGGGAGGAAGCACAGAGGGGACGGAGGGCAAAGAAGGAGGAGATTAAGGCCACTCAGCCCCAGCCCTGCATTGTGCAGATGGAAAAACGGAGGCCTTCGAGGGGCCAAGCCCTGCCCCAGGCTGCGCTACGAGTCCGCAGTGGAAGGGAGCGGTGGGCGCATGGGAGGTGGGCGGTCTGCGGGGAAGCCGCAGGAGCGGAGGGCGGGAGCGGCTTAGGCGGTGGGTTGGCCGGCAGGGGTGGCCATGGAGGCTCCCACAGGGGCAGGACCTGACCGTCTGCGGTGGGCGGTGACCCTCGGGGTGCTGGAAGTCTGGAATGGCGGTGTTACCCCAGTAGCCGTCGAAGTACTCTGGGTTGCTGGAGTCAAAGGAGAGGCTCTGGGAGGACACGTGCCACAAAAGGATGCCTGGGCGGTAACTCGAGAAAATATCCGCAACTGGAGCCTGGGCCAGGAGACCTAGGGCGGGAGGGACAGCGGGTGTGAAGCCCAAAGCGGTCTCCTTGGGCCGCGAGAAGGGAGGGAGGTGTACGGATGGGCACGTACCTAAGAAATAATAGCCGCCAGGAGCCCCAAGCACCAGCTCTCCGGCCTGGAAGGGAAGTCCTGAGGGTGAGAGGGGGCCCTGTTTGGGAGCCGCCCCCACTGCGCTTTTGCTCCCTACTCGCCTGAGTGACCACGGAGCTGAAGCCCGCTTCACAGTAACGCTTGTCCCAGCCTGCAGGAGACAAGGAGGAGGGGTCAGCGCAGGGGTGAAGGGAGGCGCGCGCGAGCCCGGAGGAGGGCTGGGGGACAGGGGCGGGGCCTTGAGTCGGCGGGGCCCTGGGGCGAGGCCAGATCCAAAGCAAGGGCTGCGGCGCTGGGGGCGGGATCCGATGGGGGCGGGGCCAAGCCGTCGCGAGTGGGCGGGGCCAGGTCGTAGCTGGCGCTTACTAAAATCATTTTCCACGTAAATGCGGCTCAGGGTGTTCCCGCGACAGGCGGAGTACTCGGCGCGGCGGCCGCTCTCTGGCTGAGCCAAAAAGCAGCTACCTACGGGCGTCTTCTCAGCCTCCTCAGTCTTTTCTAGGACGTTCCAGTGCTGCCAGGGGGCGCAGGCCTGGAGAAAGGCCACAGGAGTGGGGACGGGCGCGAGACTTGGGCTCCTCCTGGCCCCAGGTGTCCCTGCCCCCGATTGTTCCCTGTGCCCTGTACCGCGGGGCCCACCACAATGACGTCGCTCCAGCTGACGACCGACGCCCCCAGTCCTTGGCGGGCCTTGAAGGTTTGTAAAGTTTGGGAGCCTACATTTCGGGTCTCATCACCTGGAAGGCACAAGAAGGGGTGGGGCGCTGAAGCCCGGCAGTCCACGTCCCTCTGACCCCAACCTTGCTCTCCTTGCCTGGGACTCACGGAGGTCAAAGAGCAGCGAGGGGCACTGGCCGCCCTCGGCCCTCCAGGGGCACAGGAACACGCCGCCCGTCTCCTCCTGGCTGGGGCCCAGGGTCCGCGGGGCGCCCACCACGATGGCCACTCTGCATAGGAAAGCTGGGTGAGCGCCGCGCAGATTCCAGCGTATCCCAGGCCCTGGCGCCGGCGCTGGGAGCACTGCCCGGAAGGCCATGTGGCATGGGGGCACTGGACCATCTTTCCTCAATGACACCTCACAGACCACCGTGATGTACTTCTTCATCTTATGGACAGTGAAACCGACTCTCAGCGAGGGCAATCACGTGGCTAAAGTAACCCAGTGAGTTGAGAGTAGAGCTGGGACTATAACCATTTGGTTTGATTTGAACACCAGGGGTTTGAGATCTTTGCTGAAAAAGACCTAAACTCTGTACAACACCTCCATCCTTCCACCCGCAACAAGAACCAGCGGTTCACATGCTCCCTGGAATGCCTGCCTAGACTGTTACCAGATCCCCTCTTGAGAGCTGGTTTTAATGAGGGAAGGTAGCGGGTACCTCTAAAGTGGGGCTGGAGTGTGTGTGCTGATAGGAGGACCCTAGCAGATCTAGGTTTAAATCACAATTCTGCCATATGTGAAATAGGAATACCAATTTCATAACCAATGACTGGTTTTCACAACCAGTCAATGCTGTCAGGAGTAAATGTAATAAATACGAGTAACGGTTAGCATGGTCCCAGCCAAATACATAACAAACGCTCTTGAAACAATGCTATAATTTTAAAAAATAATTTTGTTGTTTTGAGACAGGGTCTCATTCTGTTGCCCAGCTGGAGTGCAGCAGCATGATCACAGCTCACTGTAGCCTTGATCTCCAGGGCTCAAGCAATCCTCTCCCCTCAGCCACCCTAGTAGCTGGGACTGCGGGTGTGCAACACCATGCCTGGCTAATTAAAAAAAATTTTTTTATAGGCTGGGCATGGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCCAAGGGATTACAGGCGTGAGCCTCTGTGTCTGGCCCATAATATTTTTTTAGCCTGCAGGATGTTTAAGTAGTGCCAATGGGATCACTACTTATAGGAGGGGAAATCAGCAGGAGTGGGCACAGGAAGGAGTTGAGCTGATTCAGGCCCAATGACAGCATTCGCCAACACCCCACGAGCTTTGGAACTAGAATGACCCTTCAAAATTGTCAGAGTTGGCCGGGTGTGGTGGCTCACGCCTGTAATCCCAGTACTTTGGGAGGCCGAGGCAGGCTGATCACCTGAGGTCAGGAGTTTGAGACCAGCCTGGCCAACATAGTGAAACCCTGTCTCTACTAAAAATACAAAAATTAGCCGGGCATGGTGGCATGCACCTGTAATCCCAGCTACTCGGGAGGCTGAGACAGGAGAATCGTTTGAACCCAGGAGGCAGAGGTTGCAGTGAGCCGAGATCACCCCATTGCACTCCAGCCTGGGCAACGAGAGCGAAACTCCATCTCAAAAAAAAAGAAGAAAAAAAGTCTGGGCATGGTGGCTGAAGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGCGGGTGGATCACCTGAAGTTGGGAGTTCGAGACCACCCTGACCAACATGGA
Task1_train_24737
Gene ITGA2B (integrin subunit alpha 2b), found on Chromosome 17, is impacted by this variant. What is the biological outcome — benign or pathogenic?
Pathogenic; Glanzmann thrombasthenia
GCGGCTGCAGGAACAAATACACACGCCCCACTTCGGCCAGTTTTCGGTCTGCCCGGCTCTCCATATACAGTGGAGCGCCCACCAGCAGATCATGCCTCCTGTGGGCCAGATGAGTGGTTACATGGGACTGGACCAGGGGTATATTGGGGCTAGGGCCAAATCTCCTCGACCCTTGCTCTCCTGTTCCTCCAGTGGATACGTGAGACTAGGGCTAGGAAAGGGAGACAGAGGGCAGCTCTGGTAATTTGGGACCCAACTGGGTAGGGGTGGGGCATGTCCCTCCTCACCCATCCCCGTTGACGTCAGTGACAGCCACTGAATGCCCAAAATACGACGCCATCTGCAAGATGAGGAGCACCATCATTCACGCCGCTGGACAAGCATCCTCTTTAAGAAATGGGCCCTCACCTCCCATGAAATATTCTGAAGTCTCAGTTCCCCCTCCACCCAGCCACGCCCACTGGGACCTGGCCCCCACCTGCTCTCCGCGCAGCCGATGCAGCCTCTGGTAGTAGGAATCCAAAATTTCCACCTGCACGGACAGCGCAGGCGAGAGCATCATTCTTGTACCCAAAGCAACCTCCCACTCCAGGTGAGAAAGGGTGGTTTGGTGGAGGCGGGGCGGGGGTGGGGGGCGCTCAGGAGTTGTCAGCCTGAGAACTGGGATAAGGGGCTTCGGGAGGCCCAGTGGTGGGGGCACTTACCGCTCCCAGGGTCCAGCTCCAAGTGGGGGCACCGACGACATATTCTGGCGATAGGGAGAGCCAGGCTCAGGGAATGAGAGCCTTAGAACCTACCCACTTCCCGCTCCCCGTTCTGCACCCAGGGAAAAATGTGTGTGCAGGAAGATTTCCCTACATAGGGGAGATTTCAGGAAGGCGCTCCTCCCCGGGCTGGGCTACCCAACTCCCGCCCTAAGTGGATTTCTTGCCTGTAGTGTTGAGATCCCCGTCGAACTCGCCCACGGCCACCGAGTACCCTGAGGACAAGGGCGCAAATTAGTCTTTTCCAGGGGAGGAAGCACAGAGGGGACGGAGGGCAAAGAAGGAGGAGATTAAGGCCACTCAGCCCCAGCCCTGCATTGTGCAGATGGAAAAACGGAGGCCTTCGAGGGGCCAAGCCCTGCCCCAGGCTGCGCTACGAGTCCGCAGTGGAAGGGAGCGGTGGGCGCATGGGAGGTGGGCGGTCTGCGGGGAAGCCGCAGGAGCGGAGGGCGGGAGCGGCTTAGGCGGTGGGTTGGCCGGCAGGGGTGGCCATGGAGGCTCCCACAGGGGCAGGACCTGACCGTCTGCGGTGGGCGGTGACCCTCGGGGTGCTGGAAGTCTGGAATGGCGGTGTTACCCCAGTAGCCGTCGAAGTACTCTGGGTTGCTGGAGTCAAAGGAGAGGCTCTGGGAGGACACGTGCCACAAAAGGATGCCTGGGCGGTAACTCGAGAAAATATCCGCAACTGGAGCCTGGGCCAGGAGACCTAGGGCGGGAGGGACAGCGGGTGTGAAGCCCAAAGCGGTCTCCTTGGGCCGCGAGAAGGGAGGGAGGTGTACGGATGGGCACGTACCTAAGAAATAATAGCCGCCAGGAGCCCCAAGCACCAGCTCTCCGGCCTGGAAGGGAAGTCCTGAGGGTGAGAGGGGGCCCTGTTTGGGAGCCGCCCCCACTGCGCTTTTGCTCCCTACTCGCCTGAGTGACCACGGAGCTGAAGCCCGCTTCACAGTAACGCTTGTCCCAGCCTGCAGGAGACAAGGAGGAGGGGTCAGCGCAGGGGTGAAGGGAGGCGCGCGCGAGCCCGGAGGAGGGCTGGGGGACAGGGGCGGGGCCTTGAGTCGGCGGGGCCCTGGGGCGAGGCCAGATCCAAAGCAAGGGCTGCGGCGCTGGGGGCGGGATCCGATGGGGGCGGGGCCAAGCCGTCGCGAGTGGGCGGGGCCAGGTCGTAGCTGGCGCTTACTAAAATCATTTTCCACGTAAATGCGGCTCAGGGTGTTCCCGCGACAGGGGGAGTACTCGGCGCGGCGGCCGCTCTCTGGCTGAGCCAAAAAGCAGCTACCTACGGGCGTCTTCTCAGCCTCCTCAGTCTTTTCTAGGACGTTCCAGTGCTGCCAGGGGGCGCAGGCCTGGAGAAAGGCCACAGGAGTGGGGACGGGCGCGAGACTTGGGCTCCTCCTGGCCCCAGGTGTCCCTGCCCCCGATTGTTCCCTGTGCCCTGTACCGCGGGGCCCACCACAATGACGTCGCTCCAGCTGACGACCGACGCCCCCAGTCCTTGGCGGGCCTTGAAGGTTTGTAAAGTTTGGGAGCCTACATTTCGGGTCTCATCACCTGGAAGGCACAAGAAGGGGTGGGGCGCTGAAGCCCGGCAGTCCACGTCCCTCTGACCCCAACCTTGCTCTCCTTGCCTGGGACTCACGGAGGTCAAAGAGCAGCGAGGGGCACTGGCCGCCCTCGGCCCTCCAGGGGCACAGGAACACGCCGCCCGTCTCCTCCTGGCTGGGGCCCAGGGTCCGCGGGGCGCCCACCACGATGGCCACTCTGCATAGGAAAGCTGGGTGAGCGCCGCGCAGATTCCAGCGTATCCCAGGCCCTGGCGCCGGCGCTGGGAGCACTGCCCGGAAGGCCATGTGGCATGGGGGCACTGGACCATCTTTCCTCAATGACACCTCACAGACCACCGTGATGTACTTCTTCATCTTATGGACAGTGAAACCGACTCTCAGCGAGGGCAATCACGTGGCTAAAGTAACCCAGTGAGTTGAGAGTAGAGCTGGGACTATAACCATTTGGTTTGATTTGAACACCAGGGGTTTGAGATCTTTGCTGAAAAAGACCTAAACTCTGTACAACACCTCCATCCTTCCACCCGCAACAAGAACCAGCGGTTCACATGCTCCCTGGAATGCCTGCCTAGACTGTTACCAGATCCCCTCTTGAGAGCTGGTTTTAATGAGGGAAGGTAGCGGGTACCTCTAAAGTGGGGCTGGAGTGTGTGTGCTGATAGGAGGACCCTAGCAGATCTAGGTTTAAATCACAATTCTGCCATATGTGAAATAGGAATACCAATTTCATAACCAATGACTGGTTTTCACAACCAGTCAATGCTGTCAGGAGTAAATGTAATAAATACGAGTAACGGTTAGCATGGTCCCAGCCAAATACATAACAAACGCTCTTGAAACAATGCTATAATTTTAAAAAATAATTTTGTTGTTTTGAGACAGGGTCTCATTCTGTTGCCCAGCTGGAGTGCAGCAGCATGATCACAGCTCACTGTAGCCTTGATCTCCAGGGCTCAAGCAATCCTCTCCCCTCAGCCACCCTAGTAGCTGGGACTGCGGGTGTGCAACACCATGCCTGGCTAATTAAAAAAAATTTTTTTATAGGCTGGGCATGGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCCAAGGGATTACAGGCGTGAGCCTCTGTGTCTGGCCCATAATATTTTTTTAGCCTGCAGGATGTTTAAGTAGTGCCAATGGGATCACTACTTATAGGAGGGGAAATCAGCAGGAGTGGGCACAGGAAGGAGTTGAGCTGATTCAGGCCCAATGACAGCATTCGCCAACACCCCACGAGCTTTGGAACTAGAATGACCCTTCAAAATTGTCAGAGTTGGCCGGGTGTGGTGGCTCACGCCTGTAATCCCAGTACTTTGGGAGGCCGAGGCAGGCTGATCACCTGAGGTCAGGAGTTTGAGACCAGCCTGGCCAACATAGTGAAACCCTGTCTCTACTAAAAATACAAAAATTAGCCGGGCATGGTGGCATGCACCTGTAATCCCAGCTACTCGGGAGGCTGAGACAGGAGAATCGTTTGAACCCAGGAGGCAGAGGTTGCAGTGAGCCGAGATCACCCCATTGCACTCCAGCCTGGGCAACGAGAGCGAAACTCCATCTCAAAAAAAAAGAAGAAAAAAAGTCTGGGCATGGTGGCTGAAGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGCGGGTGGATCACCTGAAGTTGGGAGTTCGAGACCACCCTGACCAACATGGAGAAACCTCGTCTCTACTAAAAATACAAAATTAGCCGGGTGTGGTGGCACATGCCTG
GCGGCTGCAGGAACAAATACACACGCCCCACTTCGGCCAGTTTTCGGTCTGCCCGGCTCTCCATATACAGTGGAGCGCCCACCAGCAGATCATGCCTCCTGTGGGCCAGATGAGTGGTTACATGGGACTGGACCAGGGGTATATTGGGGCTAGGGCCAAATCTCCTCGACCCTTGCTCTCCTGTTCCTCCAGTGGATACGTGAGACTAGGGCTAGGAAAGGGAGACAGAGGGCAGCTCTGGTAATTTGGGACCCAACTGGGTAGGGGTGGGGCATGTCCCTCCTCACCCATCCCCGTTGACGTCAGTGACAGCCACTGAATGCCCAAAATACGACGCCATCTGCAAGATGAGGAGCACCATCATTCACGCCGCTGGACAAGCATCCTCTTTAAGAAATGGGCCCTCACCTCCCATGAAATATTCTGAAGTCTCAGTTCCCCCTCCACCCAGCCACGCCCACTGGGACCTGGCCCCCACCTGCTCTCCGCGCAGCCGATGCAGCCTCTGGTAGTAGGAATCCAAAATTTCCACCTGCACGGACAGCGCAGGCGAGAGCATCATTCTTGTACCCAAAGCAACCTCCCACTCCAGGTGAGAAAGGGTGGTTTGGTGGAGGCGGGGCGGGGGTGGGGGGCGCTCAGGAGTTGTCAGCCTGAGAACTGGGATAAGGGGCTTCGGGAGGCCCAGTGGTGGGGGCACTTACCGCTCCCAGGGTCCAGCTCCAAGTGGGGGCACCGACGACATATTCTGGCGATAGGGAGAGCCAGGCTCAGGGAATGAGAGCCTTAGAACCTACCCACTTCCCGCTCCCCGTTCTGCACCCAGGGAAAAATGTGTGTGCAGGAAGATTTCCCTACATAGGGGAGATTTCAGGAAGGCGCTCCTCCCCGGGCTGGGCTACCCAACTCCCGCCCTAAGTGGATTTCTTGCCTGTAGTGTTGAGATCCCCGTCGAACTCGCCCACGGCCACCGAGTACCCTGAGGACAAGGGCGCAAATTAGTCTTTTCCAGGGGAGGAAGCACAGAGGGGACGGAGGGCAAAGAAGGAGGAGATTAAGGCCACTCAGCCCCAGCCCTGCATTGTGCAGATGGAAAAACGGAGGCCTTCGAGGGGCCAAGCCCTGCCCCAGGCTGCGCTACGAGTCCGCAGTGGAAGGGAGCGGTGGGCGCATGGGAGGTGGGCGGTCTGCGGGGAAGCCGCAGGAGCGGAGGGCGGGAGCGGCTTAGGCGGTGGGTTGGCCGGCAGGGGTGGCCATGGAGGCTCCCACAGGGGCAGGACCTGACCGTCTGCGGTGGGCGGTGACCCTCGGGGTGCTGGAAGTCTGGAATGGCGGTGTTACCCCAGTAGCCGTCGAAGTACTCTGGGTTGCTGGAGTCAAAGGAGAGGCTCTGGGAGGACACGTGCCACAAAAGGATGCCTGGGCGGTAACTCGAGAAAATATCCGCAACTGGAGCCTGGGCCAGGAGACCTAGGGCGGGAGGGACAGCGGGTGTGAAGCCCAAAGCGGTCTCCTTGGGCCGCGAGAAGGGAGGGAGGTGTACGGATGGGCACGTACCTAAGAAATAATAGCCGCCAGGAGCCCCAAGCACCAGCTCTCCGGCCTGGAAGGGAAGTCCTGAGGGTGAGAGGGGGCCCTGTTTGGGAGCCGCCCCCACTGCGCTTTTGCTCCCTACTCGCCTGAGTGACCACGGAGCTGAAGCCCGCTTCACAGTAACGCTTGTCCCAGCCTGCAGGAGACAAGGAGGAGGGGTCAGCGCAGGGGTGAAGGGAGGCGCGCGCGAGCCCGGAGGAGGGCTGGGGGACAGGGGCGGGGCCTTGAGTCGGCGGGGCCCTGGGGCGAGGCCAGATCCAAAGCAAGGGCTGCGGCGCTGGGGGCGGGATCCGATGGGGGCGGGGCCAAGCCGTCGCGAGTGGGCGGGGCCAGGTCGTAGCTGGCGCTTACTAAAATCATTTTCCACGTAAATGCGGCTCAGGGTGTTCCCGCGACAGGGGGAGTACTCGGCGCGGCGGCCGCTCTCTGGCTGAGCCAAAAAGCAGCTACCTACGTGCGTCTTCTCAGCCTCCTCAGTCTTTTCTAGGACGTTCCAGTGCTGCCAGGGGGCGCAGGCCTGGAGAAAGGCCACAGGAGTGGGGACGGGCGCGAGACTTGGGCTCCTCCTGGCCCCAGGTGTCCCTGCCCCCGATTGTTCCCTGTGCCCTGTACCGCGGGGCCCACCACAATGACGTCGCTCCAGCTGACGACCGACGCCCCCAGTCCTTGGCGGGCCTTGAAGGTTTGTAAAGTTTGGGAGCCTACATTTCGGGTCTCATCACCTGGAAGGCACAAGAAGGGGTGGGGCGCTGAAGCCCGGCAGTCCACGTCCCTCTGACCCCAACCTTGCTCTCCTTGCCTGGGACTCACGGAGGTCAAAGAGCAGCGAGGGGCACTGGCCGCCCTCGGCCCTCCAGGGGCACAGGAACACGCCGCCCGTCTCCTCCTGGCTGGGGCCCAGGGTCCGCGGGGCGCCCACCACGATGGCCACTCTGCATAGGAAAGCTGGGTGAGCGCCGCGCAGATTCCAGCGTATCCCAGGCCCTGGCGCCGGCGCTGGGAGCACTGCCCGGAAGGCCATGTGGCATGGGGGCACTGGACCATCTTTCCTCAATGACACCTCACAGACCACCGTGATGTACTTCTTCATCTTATGGACAGTGAAACCGACTCTCAGCGAGGGCAATCACGTGGCTAAAGTAACCCAGTGAGTTGAGAGTAGAGCTGGGACTATAACCATTTGGTTTGATTTGAACACCAGGGGTTTGAGATCTTTGCTGAAAAAGACCTAAACTCTGTACAACACCTCCATCCTTCCACCCGCAACAAGAACCAGCGGTTCACATGCTCCCTGGAATGCCTGCCTAGACTGTTACCAGATCCCCTCTTGAGAGCTGGTTTTAATGAGGGAAGGTAGCGGGTACCTCTAAAGTGGGGCTGGAGTGTGTGTGCTGATAGGAGGACCCTAGCAGATCTAGGTTTAAATCACAATTCTGCCATATGTGAAATAGGAATACCAATTTCATAACCAATGACTGGTTTTCACAACCAGTCAATGCTGTCAGGAGTAAATGTAATAAATACGAGTAACGGTTAGCATGGTCCCAGCCAAATACATAACAAACGCTCTTGAAACAATGCTATAATTTTAAAAAATAATTTTGTTGTTTTGAGACAGGGTCTCATTCTGTTGCCCAGCTGGAGTGCAGCAGCATGATCACAGCTCACTGTAGCCTTGATCTCCAGGGCTCAAGCAATCCTCTCCCCTCAGCCACCCTAGTAGCTGGGACTGCGGGTGTGCAACACCATGCCTGGCTAATTAAAAAAAATTTTTTTATAGGCTGGGCATGGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCCAAGGGATTACAGGCGTGAGCCTCTGTGTCTGGCCCATAATATTTTTTTAGCCTGCAGGATGTTTAAGTAGTGCCAATGGGATCACTACTTATAGGAGGGGAAATCAGCAGGAGTGGGCACAGGAAGGAGTTGAGCTGATTCAGGCCCAATGACAGCATTCGCCAACACCCCACGAGCTTTGGAACTAGAATGACCCTTCAAAATTGTCAGAGTTGGCCGGGTGTGGTGGCTCACGCCTGTAATCCCAGTACTTTGGGAGGCCGAGGCAGGCTGATCACCTGAGGTCAGGAGTTTGAGACCAGCCTGGCCAACATAGTGAAACCCTGTCTCTACTAAAAATACAAAAATTAGCCGGGCATGGTGGCATGCACCTGTAATCCCAGCTACTCGGGAGGCTGAGACAGGAGAATCGTTTGAACCCAGGAGGCAGAGGTTGCAGTGAGCCGAGATCACCCCATTGCACTCCAGCCTGGGCAACGAGAGCGAAACTCCATCTCAAAAAAAAAGAAGAAAAAAAGTCTGGGCATGGTGGCTGAAGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGCGGGTGGATCACCTGAAGTTGGGAGTTCGAGACCACCCTGACCAACATGGAGAAACCTCGTCTCTACTAAAAATACAAAATTAGCCGGGTGTGGTGGCACATGCCTG
Task1_train_24738
The gene ITGA2B, LOC130060983 (integrin subunit alpha 2b| ATAC-STARR-seq lymphoblastoid active region 12261), on Chromosome 17, contains a mutation. Does this mutation cause a disorder, or is it a benign change?
Pathogenic; Glanzmann thrombasthenia
TCCTGTTCCTCCAGTGGATACGTGAGACTAGGGCTAGGAAAGGGAGACAGAGGGCAGCTCTGGTAATTTGGGACCCAACTGGGTAGGGGTGGGGCATGTCCCTCCTCACCCATCCCCGTTGACGTCAGTGACAGCCACTGAATGCCCAAAATACGACGCCATCTGCAAGATGAGGAGCACCATCATTCACGCCGCTGGACAAGCATCCTCTTTAAGAAATGGGCCCTCACCTCCCATGAAATATTCTGAAGTCTCAGTTCCCCCTCCACCCAGCCACGCCCACTGGGACCTGGCCCCCACCTGCTCTCCGCGCAGCCGATGCAGCCTCTGGTAGTAGGAATCCAAAATTTCCACCTGCACGGACAGCGCAGGCGAGAGCATCATTCTTGTACCCAAAGCAACCTCCCACTCCAGGTGAGAAAGGGTGGTTTGGTGGAGGCGGGGCGGGGGTGGGGGGCGCTCAGGAGTTGTCAGCCTGAGAACTGGGATAAGGGGCTTCGGGAGGCCCAGTGGTGGGGGCACTTACCGCTCCCAGGGTCCAGCTCCAAGTGGGGGCACCGACGACATATTCTGGCGATAGGGAGAGCCAGGCTCAGGGAATGAGAGCCTTAGAACCTACCCACTTCCCGCTCCCCGTTCTGCACCCAGGGAAAAATGTGTGTGCAGGAAGATTTCCCTACATAGGGGAGATTTCAGGAAGGCGCTCCTCCCCGGGCTGGGCTACCCAACTCCCGCCCTAAGTGGATTTCTTGCCTGTAGTGTTGAGATCCCCGTCGAACTCGCCCACGGCCACCGAGTACCCTGAGGACAAGGGCGCAAATTAGTCTTTTCCAGGGGAGGAAGCACAGAGGGGACGGAGGGCAAAGAAGGAGGAGATTAAGGCCACTCAGCCCCAGCCCTGCATTGTGCAGATGGAAAAACGGAGGCCTTCGAGGGGCCAAGCCCTGCCCCAGGCTGCGCTACGAGTCCGCAGTGGAAGGGAGCGGTGGGCGCATGGGAGGTGGGCGGTCTGCGGGGAAGCCGCAGGAGCGGAGGGCGGGAGCGGCTTAGGCGGTGGGTTGGCCGGCAGGGGTGGCCATGGAGGCTCCCACAGGGGCAGGACCTGACCGTCTGCGGTGGGCGGTGACCCTCGGGGTGCTGGAAGTCTGGAATGGCGGTGTTACCCCAGTAGCCGTCGAAGTACTCTGGGTTGCTGGAGTCAAAGGAGAGGCTCTGGGAGGACACGTGCCACAAAAGGATGCCTGGGCGGTAACTCGAGAAAATATCCGCAACTGGAGCCTGGGCCAGGAGACCTAGGGCGGGAGGGACAGCGGGTGTGAAGCCCAAAGCGGTCTCCTTGGGCCGCGAGAAGGGAGGGAGGTGTACGGATGGGCACGTACCTAAGAAATAATAGCCGCCAGGAGCCCCAAGCACCAGCTCTCCGGCCTGGAAGGGAAGTCCTGAGGGTGAGAGGGGGCCCTGTTTGGGAGCCGCCCCCACTGCGCTTTTGCTCCCTACTCGCCTGAGTGACCACGGAGCTGAAGCCCGCTTCACAGTAACGCTTGTCCCAGCCTGCAGGAGACAAGGAGGAGGGGTCAGCGCAGGGGTGAAGGGAGGCGCGCGCGAGCCCGGAGGAGGGCTGGGGGACAGGGGCGGGGCCTTGAGTCGGCGGGGCCCTGGGGCGAGGCCAGATCCAAAGCAAGGGCTGCGGCGCTGGGGGCGGGATCCGATGGGGGCGGGGCCAAGCCGTCGCGAGTGGGCGGGGCCAGGTCGTAGCTGGCGCTTACTAAAATCATTTTCCACGTAAATGCGGCTCAGGGTGTTCCCGCGACAGGGGGAGTACTCGGCGCGGCGGCCGCTCTCTGGCTGAGCCAAAAAGCAGCTACCTACGGGCGTCTTCTCAGCCTCCTCAGTCTTTTCTAGGACGTTCCAGTGCTGCCAGGGGGCGCAGGCCTGGAGAAAGGCCACAGGAGTGGGGACGGGCGCGAGACTTGGGCTCCTCCTGGCCCCAGGTGTCCCTGCCCCCGATTGTTCCCTGTGCCCTGTACCGCGGGGCCCACCACAATGACGTCGCTCCAGCTGACGACCGACGCCCCCAGTCCTTGGCGGGCCTTGAAGGTTTGTAAAGTTTGGGAGCCTACATTTCGGGTCTCATCACCTGGAAGGCACAAGAAGGGGTGGGGCGCTGAAGCCCGGCAGTCCACGTCCCTCTGACCCCAACCTTGCTCTCCTTGCCTGGGACTCACGGAGGTCAAAGAGCAGCGAGGGGCACTGGCCGCCCTCGGCCCTCCAGGGGCACAGGAACACGCCGCCCGTCTCCTCCTGGCTGGGGCCCAGGGTCCGCGGGGCGCCCACCACGATGGCCACTCTGCATAGGAAAGCTGGGTGAGCGCCGCGCAGATTCCAGCGTATCCCAGGCCCTGGCGCCGGCGCTGGGAGCACTGCCCGGAAGGCCATGTGGCATGGGGGCACTGGACCATCTTTCCTCAATGACACCTCACAGACCACCGTGATGTACTTCTTCATCTTATGGACAGTGAAACCGACTCTCAGCGAGGGCAATCACGTGGCTAAAGTAACCCAGTGAGTTGAGAGTAGAGCTGGGACTATAACCATTTGGTTTGATTTGAACACCAGGGGTTTGAGATCTTTGCTGAAAAAGACCTAAACTCTGTACAACACCTCCATCCTTCCACCCGCAACAAGAACCAGCGGTTCACATGCTCCCTGGAATGCCTGCCTAGACTGTTACCAGATCCCCTCTTGAGAGCTGGTTTTAATGAGGGAAGGTAGCGGGTACCTCTAAAGTGGGGCTGGAGTGTGTGTGCTGATAGGAGGACCCTAGCAGATCTAGGTTTAAATCACAATTCTGCCATATGTGAAATAGGAATACCAATTTCATAACCAATGACTGGTTTTCACAACCAGTCAATGCTGTCAGGAGTAAATGTAATAAATACGAGTAACGGTTAGCATGGTCCCAGCCAAATACATAACAAACGCTCTTGAAACAATGCTATAATTTTAAAAAATAATTTTGTTGTTTTGAGACAGGGTCTCATTCTGTTGCCCAGCTGGAGTGCAGCAGCATGATCACAGCTCACTGTAGCCTTGATCTCCAGGGCTCAAGCAATCCTCTCCCCTCAGCCACCCTAGTAGCTGGGACTGCGGGTGTGCAACACCATGCCTGGCTAATTAAAAAAAATTTTTTTATAGGCTGGGCATGGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCCAAGGGATTACAGGCGTGAGCCTCTGTGTCTGGCCCATAATATTTTTTTAGCCTGCAGGATGTTTAAGTAGTGCCAATGGGATCACTACTTATAGGAGGGGAAATCAGCAGGAGTGGGCACAGGAAGGAGTTGAGCTGATTCAGGCCCAATGACAGCATTCGCCAACACCCCACGAGCTTTGGAACTAGAATGACCCTTCAAAATTGTCAGAGTTGGCCGGGTGTGGTGGCTCACGCCTGTAATCCCAGTACTTTGGGAGGCCGAGGCAGGCTGATCACCTGAGGTCAGGAGTTTGAGACCAGCCTGGCCAACATAGTGAAACCCTGTCTCTACTAAAAATACAAAAATTAGCCGGGCATGGTGGCATGCACCTGTAATCCCAGCTACTCGGGAGGCTGAGACAGGAGAATCGTTTGAACCCAGGAGGCAGAGGTTGCAGTGAGCCGAGATCACCCCATTGCACTCCAGCCTGGGCAACGAGAGCGAAACTCCATCTCAAAAAAAAAGAAGAAAAAAAGTCTGGGCATGGTGGCTGAAGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGCGGGTGGATCACCTGAAGTTGGGAGTTCGAGACCACCCTGACCAACATGGAGAAACCTCGTCTCTACTAAAAATACAAAATTAGCCGGGTGTGGTGGCACATGCCTGTAATCCCAGCTACGCGGGAGGCTGTGGCAGGAGAATCGCTTGAACCCGGGAGGCAGAAGTTGCGGTGAGCCAGTGATTGTGCCATTGCACTCCAGCCTGGGCAACAAGAGCGAAACCCCATCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAAGAAGAAGAAGAAAAAAAGAATTGTCA
TCCTGTTCCTCCAGTGGATACGTGAGACTAGGGCTAGGAAAGGGAGACAGAGGGCAGCTCTGGTAATTTGGGACCCAACTGGGTAGGGGTGGGGCATGTCCCTCCTCACCCATCCCCGTTGACGTCAGTGACAGCCACTGAATGCCCAAAATACGACGCCATCTGCAAGATGAGGAGCACCATCATTCACGCCGCTGGACAAGCATCCTCTTTAAGAAATGGGCCCTCACCTCCCATGAAATATTCTGAAGTCTCAGTTCCCCCTCCACCCAGCCACGCCCACTGGGACCTGGCCCCCACCTGCTCTCCGCGCAGCCGATGCAGCCTCTGGTAGTAGGAATCCAAAATTTCCACCTGCACGGACAGCGCAGGCGAGAGCATCATTCTTGTACCCAAAGCAACCTCCCACTCCAGGTGAGAAAGGGTGGTTTGGTGGAGGCGGGGCGGGGGTGGGGGGCGCTCAGGAGTTGTCAGCCTGAGAACTGGGATAAGGGGCTTCGGGAGGCCCAGTGGTGGGGGCACTTACCGCTCCCAGGGTCCAGCTCCAAGTGGGGGCACCGACGACATATTCTGGCGATAGGGAGAGCCAGGCTCAGGGAATGAGAGCCTTAGAACCTACCCACTTCCCGCTCCCCGTTCTGCACCCAGGGAAAAATGTGTGTGCAGGAAGATTTCCCTACATAGGGGAGATTTCAGGAAGGCGCTCCTCCCCGGGCTGGGCTACCCAACTCCCGCCCTAAGTGGATTTCTTGCCTGTAGTGTTGAGATCCCCGTCGAACTCGCCCACGGCCACCGAGTACCCTGAGGACAAGGGCGCAAATTAGTCTTTTCCAGGGGAGGAAGCACAGAGGGGACGGAGGGCAAAGAAGGAGGAGATTAAGGCCACTCAGCCCCAGCCCTGCATTGTGCAGATGGAAAAACGGAGGCCTTCGAGGGGCCAAGCCCTGCCCCAGGCTGCGCTACGAGTCCGCAGTGGAAGGGAGCGGTGGGCGCATGGGAGGTGGGCGGTCTGCGGGGAAGCCGCAGGAGCGGAGGGCGGGAGCGGCTTAGGCGGTGGGTTGGCCGGCAGGGGTGGCCATGGAGGCTCCCACAGGGGCAGGACCTGACCGTCTGCGGTGGGCGGTGACCCTCGGGGTGCTGGAAGTCTGGAATGGCGGTGTTACCCCAGTAGCCGTCGAAGTACTCTGGGTTGCTGGAGTCAAAGGAGAGGCTCTGGGAGGACACGTGCCACAAAAGGATGCCTGGGCGGTAACTCGAGAAAATATCCGCAACTGGAGCCTGGGCCAGGAGACCTAGGGCGGGAGGGACAGCGGGTGTGAAGCCCAAAGCGGTCTCCTTGGGCCGCGAGAAGGGAGGGAGGTGTACGGATGGGCACGTACCTAAGAAATAATAGCCGCCAGGAGCCCCAAGCACCAGCTCTCCGGCCTGGAAGGGAAGTCCTGAGGGTGAGAGGGGGCCCTGTTTGGGAGCCGCCCCCACTGCGCTTTTGCTCCCTACTCGCCTGAGTGACCACGGAGCTGAAGCCCGCTTCACAGTAACGCTTGTCCCAGCCTGCAGGAGACAAGGAGGAGGGGTCAGCGCAGGGGTGAAGGGAGGCGCGCGCGAGCCCGGAGGAGGGCTGGGGGACAGGGGCGGGGCCTTGAGTCGGCGGGGCCCTGGGGCGAGGCCAGATCCAAAGCAAGGGCTGCGGCGCTGGGGGCGGGATCCGATGGGGGCGGGGCCAAGCCGTCGCGAGTGGGCGGGGCCAGGTCGTAGCTGGCGCTTACTAAAATCATTTTCCACGTAAATGCGGCTCAGGGTGTTCCCGCGACAGGGGGAGTACTCGGCGCGGCGGCCGCTCTCTGGCTGAGCCAAAAAGCAGCTACCTACGGGCGTCTTCTCAGCCTCCTCAGTCTTTTCTAGGACGTTCCAGTGCTGCCAGGGGGCGCAGGCCTGGAGAAAGGCCACAGGAGTGGGGACGGGCGCGAGACTTGGGCTCCTCCTGGCCCCAGGTGTCCCTGCCCCCGATTGTTCCCTGTGCCCTGTACCGCGGGGCCCACCACAATGACCTCGCTCCAGCTGACGACCGACGCCCCCAGTCCTTGGCGGGCCTTGAAGGTTTGTAAAGTTTGGGAGCCTACATTTCGGGTCTCATCACCTGGAAGGCACAAGAAGGGGTGGGGCGCTGAAGCCCGGCAGTCCACGTCCCTCTGACCCCAACCTTGCTCTCCTTGCCTGGGACTCACGGAGGTCAAAGAGCAGCGAGGGGCACTGGCCGCCCTCGGCCCTCCAGGGGCACAGGAACACGCCGCCCGTCTCCTCCTGGCTGGGGCCCAGGGTCCGCGGGGCGCCCACCACGATGGCCACTCTGCATAGGAAAGCTGGGTGAGCGCCGCGCAGATTCCAGCGTATCCCAGGCCCTGGCGCCGGCGCTGGGAGCACTGCCCGGAAGGCCATGTGGCATGGGGGCACTGGACCATCTTTCCTCAATGACACCTCACAGACCACCGTGATGTACTTCTTCATCTTATGGACAGTGAAACCGACTCTCAGCGAGGGCAATCACGTGGCTAAAGTAACCCAGTGAGTTGAGAGTAGAGCTGGGACTATAACCATTTGGTTTGATTTGAACACCAGGGGTTTGAGATCTTTGCTGAAAAAGACCTAAACTCTGTACAACACCTCCATCCTTCCACCCGCAACAAGAACCAGCGGTTCACATGCTCCCTGGAATGCCTGCCTAGACTGTTACCAGATCCCCTCTTGAGAGCTGGTTTTAATGAGGGAAGGTAGCGGGTACCTCTAAAGTGGGGCTGGAGTGTGTGTGCTGATAGGAGGACCCTAGCAGATCTAGGTTTAAATCACAATTCTGCCATATGTGAAATAGGAATACCAATTTCATAACCAATGACTGGTTTTCACAACCAGTCAATGCTGTCAGGAGTAAATGTAATAAATACGAGTAACGGTTAGCATGGTCCCAGCCAAATACATAACAAACGCTCTTGAAACAATGCTATAATTTTAAAAAATAATTTTGTTGTTTTGAGACAGGGTCTCATTCTGTTGCCCAGCTGGAGTGCAGCAGCATGATCACAGCTCACTGTAGCCTTGATCTCCAGGGCTCAAGCAATCCTCTCCCCTCAGCCACCCTAGTAGCTGGGACTGCGGGTGTGCAACACCATGCCTGGCTAATTAAAAAAAATTTTTTTATAGGCTGGGCATGGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCCAAGGGATTACAGGCGTGAGCCTCTGTGTCTGGCCCATAATATTTTTTTAGCCTGCAGGATGTTTAAGTAGTGCCAATGGGATCACTACTTATAGGAGGGGAAATCAGCAGGAGTGGGCACAGGAAGGAGTTGAGCTGATTCAGGCCCAATGACAGCATTCGCCAACACCCCACGAGCTTTGGAACTAGAATGACCCTTCAAAATTGTCAGAGTTGGCCGGGTGTGGTGGCTCACGCCTGTAATCCCAGTACTTTGGGAGGCCGAGGCAGGCTGATCACCTGAGGTCAGGAGTTTGAGACCAGCCTGGCCAACATAGTGAAACCCTGTCTCTACTAAAAATACAAAAATTAGCCGGGCATGGTGGCATGCACCTGTAATCCCAGCTACTCGGGAGGCTGAGACAGGAGAATCGTTTGAACCCAGGAGGCAGAGGTTGCAGTGAGCCGAGATCACCCCATTGCACTCCAGCCTGGGCAACGAGAGCGAAACTCCATCTCAAAAAAAAAGAAGAAAAAAAGTCTGGGCATGGTGGCTGAAGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGCGGGTGGATCACCTGAAGTTGGGAGTTCGAGACCACCCTGACCAACATGGAGAAACCTCGTCTCTACTAAAAATACAAAATTAGCCGGGTGTGGTGGCACATGCCTGTAATCCCAGCTACGCGGGAGGCTGTGGCAGGAGAATCGCTTGAACCCGGGAGGCAGAAGTTGCGGTGAGCCAGTGATTGTGCCATTGCACTCCAGCCTGGGCAACAAGAGCGAAACCCCATCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAAGAAGAAGAAGAAAAAAAGAATTGTCA
Task1_train_24739
This variant affects the gene ITGA2B (integrin subunit alpha 2b) found on Chromosome 17. What is the clinical effect of this variant — benign or pathogenic? State the disease if applicable.
Pathogenic; Glanzmann thrombasthenia
CTCCCATGAAATATTCTGAAGTCTCAGTTCCCCCTCCACCCAGCCACGCCCACTGGGACCTGGCCCCCACCTGCTCTCCGCGCAGCCGATGCAGCCTCTGGTAGTAGGAATCCAAAATTTCCACCTGCACGGACAGCGCAGGCGAGAGCATCATTCTTGTACCCAAAGCAACCTCCCACTCCAGGTGAGAAAGGGTGGTTTGGTGGAGGCGGGGCGGGGGTGGGGGGCGCTCAGGAGTTGTCAGCCTGAGAACTGGGATAAGGGGCTTCGGGAGGCCCAGTGGTGGGGGCACTTACCGCTCCCAGGGTCCAGCTCCAAGTGGGGGCACCGACGACATATTCTGGCGATAGGGAGAGCCAGGCTCAGGGAATGAGAGCCTTAGAACCTACCCACTTCCCGCTCCCCGTTCTGCACCCAGGGAAAAATGTGTGTGCAGGAAGATTTCCCTACATAGGGGAGATTTCAGGAAGGCGCTCCTCCCCGGGCTGGGCTACCCAACTCCCGCCCTAAGTGGATTTCTTGCCTGTAGTGTTGAGATCCCCGTCGAACTCGCCCACGGCCACCGAGTACCCTGAGGACAAGGGCGCAAATTAGTCTTTTCCAGGGGAGGAAGCACAGAGGGGACGGAGGGCAAAGAAGGAGGAGATTAAGGCCACTCAGCCCCAGCCCTGCATTGTGCAGATGGAAAAACGGAGGCCTTCGAGGGGCCAAGCCCTGCCCCAGGCTGCGCTACGAGTCCGCAGTGGAAGGGAGCGGTGGGCGCATGGGAGGTGGGCGGTCTGCGGGGAAGCCGCAGGAGCGGAGGGCGGGAGCGGCTTAGGCGGTGGGTTGGCCGGCAGGGGTGGCCATGGAGGCTCCCACAGGGGCAGGACCTGACCGTCTGCGGTGGGCGGTGACCCTCGGGGTGCTGGAAGTCTGGAATGGCGGTGTTACCCCAGTAGCCGTCGAAGTACTCTGGGTTGCTGGAGTCAAAGGAGAGGCTCTGGGAGGACACGTGCCACAAAAGGATGCCTGGGCGGTAACTCGAGAAAATATCCGCAACTGGAGCCTGGGCCAGGAGACCTAGGGCGGGAGGGACAGCGGGTGTGAAGCCCAAAGCGGTCTCCTTGGGCCGCGAGAAGGGAGGGAGGTGTACGGATGGGCACGTACCTAAGAAATAATAGCCGCCAGGAGCCCCAAGCACCAGCTCTCCGGCCTGGAAGGGAAGTCCTGAGGGTGAGAGGGGGCCCTGTTTGGGAGCCGCCCCCACTGCGCTTTTGCTCCCTACTCGCCTGAGTGACCACGGAGCTGAAGCCCGCTTCACAGTAACGCTTGTCCCAGCCTGCAGGAGACAAGGAGGAGGGGTCAGCGCAGGGGTGAAGGGAGGCGCGCGCGAGCCCGGAGGAGGGCTGGGGGACAGGGGCGGGGCCTTGAGTCGGCGGGGCCCTGGGGCGAGGCCAGATCCAAAGCAAGGGCTGCGGCGCTGGGGGCGGGATCCGATGGGGGCGGGGCCAAGCCGTCGCGAGTGGGCGGGGCCAGGTCGTAGCTGGCGCTTACTAAAATCATTTTCCACGTAAATGCGGCTCAGGGTGTTCCCGCGACAGGGGGAGTACTCGGCGCGGCGGCCGCTCTCTGGCTGAGCCAAAAAGCAGCTACCTACGGGCGTCTTCTCAGCCTCCTCAGTCTTTTCTAGGACGTTCCAGTGCTGCCAGGGGGCGCAGGCCTGGAGAAAGGCCACAGGAGTGGGGACGGGCGCGAGACTTGGGCTCCTCCTGGCCCCAGGTGTCCCTGCCCCCGATTGTTCCCTGTGCCCTGTACCGCGGGGCCCACCACAATGACGTCGCTCCAGCTGACGACCGACGCCCCCAGTCCTTGGCGGGCCTTGAAGGTTTGTAAAGTTTGGGAGCCTACATTTCGGGTCTCATCACCTGGAAGGCACAAGAAGGGGTGGGGCGCTGAAGCCCGGCAGTCCACGTCCCTCTGACCCCAACCTTGCTCTCCTTGCCTGGGACTCACGGAGGTCAAAGAGCAGCGAGGGGCACTGGCCGCCCTCGGCCCTCCAGGGGCACAGGAACACGCCGCCCGTCTCCTCCTGGCTGGGGCCCAGGGTCCGCGGGGCGCCCACCACGATGGCCACTCTGCATAGGAAAGCTGGGTGAGCGCCGCGCAGATTCCAGCGTATCCCAGGCCCTGGCGCCGGCGCTGGGAGCACTGCCCGGAAGGCCATGTGGCATGGGGGCACTGGACCATCTTTCCTCAATGACACCTCACAGACCACCGTGATGTACTTCTTCATCTTATGGACAGTGAAACCGACTCTCAGCGAGGGCAATCACGTGGCTAAAGTAACCCAGTGAGTTGAGAGTAGAGCTGGGACTATAACCATTTGGTTTGATTTGAACACCAGGGGTTTGAGATCTTTGCTGAAAAAGACCTAAACTCTGTACAACACCTCCATCCTTCCACCCGCAACAAGAACCAGCGGTTCACATGCTCCCTGGAATGCCTGCCTAGACTGTTACCAGATCCCCTCTTGAGAGCTGGTTTTAATGAGGGAAGGTAGCGGGTACCTCTAAAGTGGGGCTGGAGTGTGTGTGCTGATAGGAGGACCCTAGCAGATCTAGGTTTAAATCACAATTCTGCCATATGTGAAATAGGAATACCAATTTCATAACCAATGACTGGTTTTCACAACCAGTCAATGCTGTCAGGAGTAAATGTAATAAATACGAGTAACGGTTAGCATGGTCCCAGCCAAATACATAACAAACGCTCTTGAAACAATGCTATAATTTTAAAAAATAATTTTGTTGTTTTGAGACAGGGTCTCATTCTGTTGCCCAGCTGGAGTGCAGCAGCATGATCACAGCTCACTGTAGCCTTGATCTCCAGGGCTCAAGCAATCCTCTCCCCTCAGCCACCCTAGTAGCTGGGACTGCGGGTGTGCAACACCATGCCTGGCTAATTAAAAAAAATTTTTTTATAGGCTGGGCATGGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCCAAGGGATTACAGGCGTGAGCCTCTGTGTCTGGCCCATAATATTTTTTTAGCCTGCAGGATGTTTAAGTAGTGCCAATGGGATCACTACTTATAGGAGGGGAAATCAGCAGGAGTGGGCACAGGAAGGAGTTGAGCTGATTCAGGCCCAATGACAGCATTCGCCAACACCCCACGAGCTTTGGAACTAGAATGACCCTTCAAAATTGTCAGAGTTGGCCGGGTGTGGTGGCTCACGCCTGTAATCCCAGTACTTTGGGAGGCCGAGGCAGGCTGATCACCTGAGGTCAGGAGTTTGAGACCAGCCTGGCCAACATAGTGAAACCCTGTCTCTACTAAAAATACAAAAATTAGCCGGGCATGGTGGCATGCACCTGTAATCCCAGCTACTCGGGAGGCTGAGACAGGAGAATCGTTTGAACCCAGGAGGCAGAGGTTGCAGTGAGCCGAGATCACCCCATTGCACTCCAGCCTGGGCAACGAGAGCGAAACTCCATCTCAAAAAAAAAGAAGAAAAAAAGTCTGGGCATGGTGGCTGAAGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGCGGGTGGATCACCTGAAGTTGGGAGTTCGAGACCACCCTGACCAACATGGAGAAACCTCGTCTCTACTAAAAATACAAAATTAGCCGGGTGTGGTGGCACATGCCTGTAATCCCAGCTACGCGGGAGGCTGTGGCAGGAGAATCGCTTGAACCCGGGAGGCAGAAGTTGCGGTGAGCCAGTGATTGTGCCATTGCACTCCAGCCTGGGCAACAAGAGCGAAACCCCATCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAAGAAGAAGAAGAAAAAAAGAATTGTCAGAGTTGATGAAAGAGGGCTGGACCCTTATCAAATGCCTCCCCCACACCTGCCTCCACTCTCCCCACTCACCCACTTCTCATTGATCAGACACTGGATGTGGGCCATCTTGGGAGGGGACTTGGAGTGAACTGGCTCTCTTCAGCAGAGGAAATCCCCTAAGTGGCTGACACTTGAAGGCTATCTGCCATTGCCACCCATTGCCACTCCCTGAAGCTGGTGGGCACAGTGT
CTCCCATGAAATATTCTGAAGTCTCAGTTCCCCCTCCACCCAGCCACGCCCACTGGGACCTGGCCCCCACCTGCTCTCCGCGCAGCCGATGCAGCCTCTGGTAGTAGGAATCCAAAATTTCCACCTGCACGGACAGCGCAGGCGAGAGCATCATTCTTGTACCCAAAGCAACCTCCCACTCCAGGTGAGAAAGGGTGGTTTGGTGGAGGCGGGGCGGGGGTGGGGGGCGCTCAGGAGTTGTCAGCCTGAGAACTGGGATAAGGGGCTTCGGGAGGCCCAGTGGTGGGGGCACTTACCGCTCCCAGGGTCCAGCTCCAAGTGGGGGCACCGACGACATATTCTGGCGATAGGGAGAGCCAGGCTCAGGGAATGAGAGCCTTAGAACCTACCCACTTCCCGCTCCCCGTTCTGCACCCAGGGAAAAATGTGTGTGCAGGAAGATTTCCCTACATAGGGGAGATTTCAGGAAGGCGCTCCTCCCCGGGCTGGGCTACCCAACTCCCGCCCTAAGTGGATTTCTTGCCTGTAGTGTTGAGATCCCCGTCGAACTCGCCCACGGCCACCGAGTACCCTGAGGACAAGGGCGCAAATTAGTCTTTTCCAGGGGAGGAAGCACAGAGGGGACGGAGGGCAAAGAAGGAGGAGATTAAGGCCACTCAGCCCCAGCCCTGCATTGTGCAGATGGAAAAACGGAGGCCTTCGAGGGGCCAAGCCCTGCCCCAGGCTGCGCTACGAGTCCGCAGTGGAAGGGAGCGGTGGGCGCATGGGAGGTGGGCGGTCTGCGGGGAAGCCGCAGGAGCGGAGGGCGGGAGCGGCTTAGGCGGTGGGTTGGCCGGCAGGGGTGGCCATGGAGGCTCCCACAGGGGCAGGACCTGACCGTCTGCGGTGGGCGGTGACCCTCGGGGTGCTGGAAGTCTGGAATGGCGGTGTTACCCCAGTAGCCGTCGAAGTACTCTGGGTTGCTGGAGTCAAAGGAGAGGCTCTGGGAGGACACGTGCCACAAAAGGATGCCTGGGCGGTAACTCGAGAAAATATCCGCAACTGGAGCCTGGGCCAGGAGACCTAGGGCGGGAGGGACAGCGGGTGTGAAGCCCAAAGCGGTCTCCTTGGGCCGCGAGAAGGGAGGGAGGTGTACGGATGGGCACGTACCTAAGAAATAATAGCCGCCAGGAGCCCCAAGCACCAGCTCTCCGGCCTGGAAGGGAAGTCCTGAGGGTGAGAGGGGGCCCTGTTTGGGAGCCGCCCCCACTGCGCTTTTGCTCCCTACTCGCCTGAGTGACCACGGAGCTGAAGCCCGCTTCACAGTAACGCTTGTCCCAGCCTGCAGGAGACAAGGAGGAGGGGTCAGCGCAGGGGTGAAGGGAGGCGCGCGCGAGCCCGGAGGAGGGCTGGGGGACAGGGGCGGGGCCTTGAGTCGGCGGGGCCCTGGGGCGAGGCCAGATCCAAAGCAAGGGCTGCGGCGCTGGGGGCGGGATCCGATGGGGGCGGGGCCAAGCCGTCGCGAGTGGGCGGGGCCAGGTCGTAGCTGGCGCTTACTAAAATCATTTTCCACGTAAATGCGGCTCAGGGTGTTCCCGCGACAGGGGGAGTACTCGGCGCGGCGGCCGCTCTCTGGCTGAGCCAAAAAGCAGCTACCTACGGGCGTCTTCTCAGCCTCCTCAGTCTTTTCTAGGACGTTCCAGTGCTGCCAGGGGGCGCAGGCCTGGAGAAAGGCCACAGGAGTGGGGACGGGCGCGAGACTTGGGCTCCTCCTGGCCCCAGGTGTCCCTGCCCCCGATTGTTCCCTGTGCCCTGTACCGCGGGGCCCACCACAATGACGTCGCTCCAGCTGACGACCGACGCCCCCAGTCCTTGGCGGGCCTTGAAGGTTTGTAAAGTTTGGGAGCCTACATTTCGGGTCTCATCACCTGGAAGGCACAAGAAGGGGTGGGGCGCTGAAGCCCGGCAGTCCACGTCCCTCTGACCCCAACCTTGCTCTCCTTGCCTGGGACTCACGGAGGTCAAAGAGCAGCGAGGGGCACTGGCCGCCCTCGGCCCTCCAGGGGCACGGGAACACGCCGCCCGTCTCCTCCTGGCTGGGGCCCAGGGTCCGCGGGGCGCCCACCACGATGGCCACTCTGCATAGGAAAGCTGGGTGAGCGCCGCGCAGATTCCAGCGTATCCCAGGCCCTGGCGCCGGCGCTGGGAGCACTGCCCGGAAGGCCATGTGGCATGGGGGCACTGGACCATCTTTCCTCAATGACACCTCACAGACCACCGTGATGTACTTCTTCATCTTATGGACAGTGAAACCGACTCTCAGCGAGGGCAATCACGTGGCTAAAGTAACCCAGTGAGTTGAGAGTAGAGCTGGGACTATAACCATTTGGTTTGATTTGAACACCAGGGGTTTGAGATCTTTGCTGAAAAAGACCTAAACTCTGTACAACACCTCCATCCTTCCACCCGCAACAAGAACCAGCGGTTCACATGCTCCCTGGAATGCCTGCCTAGACTGTTACCAGATCCCCTCTTGAGAGCTGGTTTTAATGAGGGAAGGTAGCGGGTACCTCTAAAGTGGGGCTGGAGTGTGTGTGCTGATAGGAGGACCCTAGCAGATCTAGGTTTAAATCACAATTCTGCCATATGTGAAATAGGAATACCAATTTCATAACCAATGACTGGTTTTCACAACCAGTCAATGCTGTCAGGAGTAAATGTAATAAATACGAGTAACGGTTAGCATGGTCCCAGCCAAATACATAACAAACGCTCTTGAAACAATGCTATAATTTTAAAAAATAATTTTGTTGTTTTGAGACAGGGTCTCATTCTGTTGCCCAGCTGGAGTGCAGCAGCATGATCACAGCTCACTGTAGCCTTGATCTCCAGGGCTCAAGCAATCCTCTCCCCTCAGCCACCCTAGTAGCTGGGACTGCGGGTGTGCAACACCATGCCTGGCTAATTAAAAAAAATTTTTTTATAGGCTGGGCATGGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCCAAGGGATTACAGGCGTGAGCCTCTGTGTCTGGCCCATAATATTTTTTTAGCCTGCAGGATGTTTAAGTAGTGCCAATGGGATCACTACTTATAGGAGGGGAAATCAGCAGGAGTGGGCACAGGAAGGAGTTGAGCTGATTCAGGCCCAATGACAGCATTCGCCAACACCCCACGAGCTTTGGAACTAGAATGACCCTTCAAAATTGTCAGAGTTGGCCGGGTGTGGTGGCTCACGCCTGTAATCCCAGTACTTTGGGAGGCCGAGGCAGGCTGATCACCTGAGGTCAGGAGTTTGAGACCAGCCTGGCCAACATAGTGAAACCCTGTCTCTACTAAAAATACAAAAATTAGCCGGGCATGGTGGCATGCACCTGTAATCCCAGCTACTCGGGAGGCTGAGACAGGAGAATCGTTTGAACCCAGGAGGCAGAGGTTGCAGTGAGCCGAGATCACCCCATTGCACTCCAGCCTGGGCAACGAGAGCGAAACTCCATCTCAAAAAAAAAGAAGAAAAAAAGTCTGGGCATGGTGGCTGAAGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGCGGGTGGATCACCTGAAGTTGGGAGTTCGAGACCACCCTGACCAACATGGAGAAACCTCGTCTCTACTAAAAATACAAAATTAGCCGGGTGTGGTGGCACATGCCTGTAATCCCAGCTACGCGGGAGGCTGTGGCAGGAGAATCGCTTGAACCCGGGAGGCAGAAGTTGCGGTGAGCCAGTGATTGTGCCATTGCACTCCAGCCTGGGCAACAAGAGCGAAACCCCATCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAAGAAGAAGAAGAAAAAAAGAATTGTCAGAGTTGATGAAAGAGGGCTGGACCCTTATCAAATGCCTCCCCCACACCTGCCTCCACTCTCCCCACTCACCCACTTCTCATTGATCAGACACTGGATGTGGGCCATCTTGGGAGGGGACTTGGAGTGAACTGGCTCTCTTCAGCAGAGGAAATCCCCTAAGTGGCTGACACTTGAAGGCTATCTGCCATTGCCACCCATTGCCACTCCCTGAAGCTGGTGGGCACAGTGT
Task1_train_24740
This alteration in ITGA2B (integrin subunit alpha 2b) on Chromosome 17 may affect gene function. Does it lead to a disease or is it benign?
Pathogenic; Glanzmann thrombasthenia
GGCTGATCACCTGAGGTCAGGAGTTTGAGACCAGCCTGGCCAACATAGTGAAACCCTGTCTCTACTAAAAATACAAAAATTAGCCGGGCATGGTGGCATGCACCTGTAATCCCAGCTACTCGGGAGGCTGAGACAGGAGAATCGTTTGAACCCAGGAGGCAGAGGTTGCAGTGAGCCGAGATCACCCCATTGCACTCCAGCCTGGGCAACGAGAGCGAAACTCCATCTCAAAAAAAAAGAAGAAAAAAAGTCTGGGCATGGTGGCTGAAGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGCGGGTGGATCACCTGAAGTTGGGAGTTCGAGACCACCCTGACCAACATGGAGAAACCTCGTCTCTACTAAAAATACAAAATTAGCCGGGTGTGGTGGCACATGCCTGTAATCCCAGCTACGCGGGAGGCTGTGGCAGGAGAATCGCTTGAACCCGGGAGGCAGAAGTTGCGGTGAGCCAGTGATTGTGCCATTGCACTCCAGCCTGGGCAACAAGAGCGAAACCCCATCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAAGAAGAAGAAGAAAAAAAGAATTGTCAGAGTTGATGAAAGAGGGCTGGACCCTTATCAAATGCCTCCCCCACACCTGCCTCCACTCTCCCCACTCACCCACTTCTCATTGATCAGACACTGGATGTGGGCCATCTTGGGAGGGGACTTGGAGTGAACTGGCTCTCTTCAGCAGAGGAAATCCCCTAAGTGGCTGACACTTGAAGGCTATCTGCCATTGCCACCCATTGCCACTCCCTGAAGCTGGTGGGCACAGTGTCTCTCACAATAGTAGCTCAGGGTACACGCTATGAAGAGGAGGAGCCAAGACTCTAATCTTGGCACTCTTGATTCTGAAGCCTGATCAATACTAATCATTAATGACCTATTGCTTCTTTTCAAATATTTATAATGTTGATGGAGATGAGGGAAATGGAACAGAAATGCAAGGTGCGGGAGGGTAGACAACTTTAGTTCTGCAAATCAATTTAGGACATGTGCTCCTCTCCACATTTCCTTTCTTTTTTTTTTTTTTTTTTTTTTGAGACAGAGTTTCGCTCTCGTTGCCCAGGCTGGAGTGCAATGGCATGATCTCGGCTCACCACAACCTCTGCCTCTCAGGTTCAAACGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGATTACAAGCATGCGGCACCACGCCCGGCTAATTTTTTTTTTTTTGAGACGGAGTGTCACTCTGTCACCCAGGCTGGAGTGCAGTGGCATGATCTCAGCTCACTGCAACCTCCACCTCCCGGGTTCAAGTGATTCTCCTACCTCAGCCTCCCGAGTAGCTGGGACTACAGGAGTGTGCCACCACGCTCAGCTAATTTTTGTATTTTTAATAGAGACAGGGTTTCACCATATTGGCCAGGCTGGTCTTGAACTCCTGACCTCATGATCTGCCCACCTCTGCCTCCCAAAGTGCTGGGATTGCAGGTGTGAGCCACTGTGCCTGGTCTCTTTTTTTTTTTTTTTTTTGTATTTTTAGTAGAGACGGGGTTTCTCCATGTTGGTCAGGCTGGTCTCGAATTCTCGACCTCAGGTGATCTGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCGCGCCCGGCCTCCTCTCTGCATTTCAAGGTGTTGAGGGTGGAGTGGTTCATACAACTGACCCTTGGGGAAAAAATAAAGCATCAACTCTTGTCTTCCCTTTGTTCTTGCTGTAGTTTTCAGTGCCCATCAGCCCACATGTGCCCTGCCCTTATACCTTCACCTGAGCCAGTCCCCTGGACCCCAACATTCTTGACAAGAAATCAACCTGAATAGGCCCCACAAGTCACCTTGCTCAACTGCTATCGCAAATGGGAAACTCGAAGCCCCCAGAAGCAGTGATGGGGAGGGGTCCTGCTCTCTCCCAATACCCCAACTTCCCTTACGGCTCACCTCCCATGGCTGTCCTTGTGGAAGTCCAGTGAAAATCCAAACTGGCTGCCATTGGGGCCTGCATAGAAGGTGAGCTGCACTGGGTCCAGGTTCAAGGCCCAGGCTGGAGGGGCAGCACAAGGTCCCAAGAGCAGCAGCACCCACTCCAGAAGCCAGAGGGCTTGCAGTGGACACAAAGCTCTGGCCATCTTCCTTCTTCCACAACCTCCCAGGCAGGAATGGGCCAGCTCCTCCTCCTTCCCTTCAGATTCCTCCACAGGAAGTCTTTTCTTATCAAACTGGAACCCCAAGTAACTTGCTGAGCAACGGGCAGAGCAAAGGGCTATAGCCCCTGGACTCATGGTGGCTAGAATTGCCAGGAAGTGGGTGAGGCCACCCAGAGGGTGGATGCTCATGGCTGAAAGCCATGACTCCTCCCCTTTCCTGAGAATAGTTTATTACCATGTCCTATTGGTTCTGCCTATCAATGATGTCTCTTGAATCTTTACCCCATCTCTACTACCACCGTGCTAGTCCAAGCCACCATCACTTTCTGCTTGGGATAGCGTGATTGTGAACTGGTCCATACTTGTCTACTCTAGCCTACAGTTCTAATCTCCTCCCTTCCCCCATCTGGCTGTACAGCTGTGGTGCTTTGTGACTTGGCCACAGGTCGGGGAAGGAGAAGGAAGCTGCTGCCCCCGATAAAACCTGAGGCTTCTGTATCTTTTTGGATATGGCATTTACCCACTTCCTCCTTCTAGGACCTTGGGCGGCCTCAACCAGCCATATTGGTGCAGCAGCTTCCTCACTCCTCCTCCGTCTTGAGCCAAGCTTTAGTGTGGCCACAGCAGTGCAGTCAGTGCTGGGGACAGGGTGGTGAATGGACCTTGGTCTAGGTGGCAAGGAGATTGGGGATAAAGTGGAGTTATTCCAGGGAATTTTGACTCACAGTTTCTGAGATTATGCATTAGCTGTTCAGTTGAAGGTAGGCCCTCAATCCTTTTTGGGTGATGGAGCTCTTTAACCATTAAGACTTGATTCTGGTTGGGGGCTTTGCCTAGGGGAGCCTTCCCTGACTCCTCAGGCTGGCCGCGTGGGCTAACACACGTAGGCACAGCATTGAGCACACTGTTTACTCTTGGTCCGTTCACAGGATTGTGTAAATGAGTCCCTTGGGAGCAAGGCTCCTTGCTACAGCCCTAGAGACTACCCAAGAGTCCAATGTGTAGTACGTGTATTGCTGAAAGACTGGATGGAAACACACACTAAGGATGGAAGATGCAAACATAGGGTGACAAAGTGAAGGGATGAGTTTTGAGCAGAAAGGCAAAGTCATTTTCTCTCGGTAAGCGGAAGAGGAGGAGTGCCAAGTCTTACTGGCACTCATGCCTTCCCAAAAAAGCAGGTTCTCAGGAAGATTTAAGAGGTCCGCTAGGGGTAACCATAGCCACATTTTCCTTTTGATTTCTATTTTCTGATCAAACTTAACCATTGCCGTATCCTGCTCAACCACCCTGTACCATTTTGAAGTCCCCTCGTAATTTACTACCTCAGCCTAGAGTTAAGAATCTTATCCTTTATAGGACAGGAAGCTAAAAGCCTGAACTTTGGTCTGGGCCTTCTTCATTGCTGAGTTCCCAGTGTCAAGTACATGGGAGGCGTGTAATTAATGTATTTGCTTGAACGAATACTTAACCCAGTCCTCTACTTACCTTCTATCCTCCCACTGTCCTCAGGTGAGTGATTGCTGTATTACTGGTGTATTCTGTGAGGCCAAATATGAACTTACATTTCACTCAAGTTTTCAATAAGTATTTACTCTGTTCAAGGCACTGTGTTGATAAAGGATACAAAGATAACCATTAGGCCAGGTATAGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCTGAGGCAGGAGGATGGCTTGAGCTCAGGCATTTAAGACCAGCCTAGGCAATACAGTGAGACCTCGTCTCTATTTTAAAATTATAAAAAATAAAATATTTTAAAAACTCCAAAGATAGCCATCAAGGAGACTTAACAAACAGCCCAGAAAGAGTTAAGACATGAACACACATAACTGCAGCAGAGAGACAGTCAAGCATGCCTTGAAAAATA
GGCTGATCACCTGAGGTCAGGAGTTTGAGACCAGCCTGGCCAACATAGTGAAACCCTGTCTCTACTAAAAATACAAAAATTAGCCGGGCATGGTGGCATGCACCTGTAATCCCAGCTACTCGGGAGGCTGAGACAGGAGAATCGTTTGAACCCAGGAGGCAGAGGTTGCAGTGAGCCGAGATCACCCCATTGCACTCCAGCCTGGGCAACGAGAGCGAAACTCCATCTCAAAAAAAAAGAAGAAAAAAAGTCTGGGCATGGTGGCTGAAGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGCGGGTGGATCACCTGAAGTTGGGAGTTCGAGACCACCCTGACCAACATGGAGAAACCTCGTCTCTACTAAAAATACAAAATTAGCCGGGTGTGGTGGCACATGCCTGTAATCCCAGCTACGCGGGAGGCTGTGGCAGGAGAATCGCTTGAACCCGGGAGGCAGAAGTTGCGGTGAGCCAGTGATTGTGCCATTGCACTCCAGCCTGGGCAACAAGAGCGAAACCCCATCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAAGAAGAAGAAGAAAAAAAGAATTGTCAGAGTTGATGAAAGAGGGCTGGACCCTTATCAAATGCCTCCCCCACACCTGCCTCCACTCTCCCCACTCACCCACTTCTCATTGATCAGACACTGGATGTGGGCCATCTTGGGAGGGGACTTGGAGTGAACTGGCTCTCTTCAGCAGAGGAAATCCCCTAAGTGGCTGACACTTGAAGGCTATCTGCCATTGCCACCCATTGCCACTCCCTGAAGCTGGTGGGCACAGTGTCTCTCACAATAGTAGCTCAGGGTACACGCTATGAAGAGGAGGAGCCAAGACTCTAATCTTGGCACTCTTGATTCTGAAGCCTGATCAATACTAATCATTAATGACCTATTGCTTCTTTTCAAATATTTATAATGTTGATGGAGATGAGGGAAATGGAACAGAAATGCAAGGTGCGGGAGGGTAGACAACTTTAGTTCTGCAAATCAATTTAGGACATGTGCTCCTCTCCACATTTCCTTTCTTTTTTTTTTTTTTTTTTTTTTGAGACAGAGTTTCGCTCTCGTTGCCCAGGCTGGAGTGCAATGGCATGATCTCGGCTCACCACAACCTCTGCCTCTCAGGTTCAAACGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGATTACAAGCATGCGGCACCACGCCCGGCTAATTTTTTTTTTTTTGAGACGGAGTGTCACTCTGTCACCCAGGCTGGAGTGCAGTGGCATGATCTCAGCTCACTGCAACCTCCACCTCCCGGGTTCAAGTGATTCTCCTACCTCAGCCTCCCGAGTAGCTGGGACTACAGGAGTGTGCCACCACGCTCAGCTAATTTTTGTATTTTTAATAGAGACAGGGTTTCACCATATTGGCCAGGCTGGTCTTGAACTCCTGACCTCATGATCTGCCCACCTCTGCCTCCCAAAGTGCTGGGATTGCAGGTGTGAGCCACTGTGCCTGGTCTCTTTTTTTTTTTTTTTTTTGTATTTTTAGTAGAGACGGGGTTTCTCCATGTTGGTCAGGCTGGTCTCGAATTCTCGACCTCAGGTGATCTGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCGCGCCCGGCCTCCTCTCTGCATTTCAAGGTGTTGAGGGTGGAGTGGTTCATACAACTGACCCTTGGGGAAAAAATAAAGCATCAACTCTTGTCTTCCCTTTGTTCTTGCTGTAGTTTTCAGTGCCCATCAGCCCACATGTGCCCTGCCCTTATACCTTCACCTGAGCCAGTCCCCTGGACCCCAACATTCTTGACAAGAAATCAACCTGAATAGGCCCCACAAGTCACCTTGCTCAACTGCTATCGCAAATGGGAAACTCGAAGCCCCCAGAAGCAGTGATGGGGAGGGGTCCTGCTCTCTCCCAATACCCCAACTTCCCTTACGGCTCACCTCCCATGGCTGTCCTTGTGGAAGTCCAGTGAAAATCCAAACTGGCTGCCATTGGGGACTGCATAGAAGGTGAGCTGCACTGGGTCCAGGTTCAAGGCCCAGGCTGGAGGGGCAGCACAAGGTCCCAAGAGCAGCAGCACCCACTCCAGAAGCCAGAGGGCTTGCAGTGGACACAAAGCTCTGGCCATCTTCCTTCTTCCACAACCTCCCAGGCAGGAATGGGCCAGCTCCTCCTCCTTCCCTTCAGATTCCTCCACAGGAAGTCTTTTCTTATCAAACTGGAACCCCAAGTAACTTGCTGAGCAACGGGCAGAGCAAAGGGCTATAGCCCCTGGACTCATGGTGGCTAGAATTGCCAGGAAGTGGGTGAGGCCACCCAGAGGGTGGATGCTCATGGCTGAAAGCCATGACTCCTCCCCTTTCCTGAGAATAGTTTATTACCATGTCCTATTGGTTCTGCCTATCAATGATGTCTCTTGAATCTTTACCCCATCTCTACTACCACCGTGCTAGTCCAAGCCACCATCACTTTCTGCTTGGGATAGCGTGATTGTGAACTGGTCCATACTTGTCTACTCTAGCCTACAGTTCTAATCTCCTCCCTTCCCCCATCTGGCTGTACAGCTGTGGTGCTTTGTGACTTGGCCACAGGTCGGGGAAGGAGAAGGAAGCTGCTGCCCCCGATAAAACCTGAGGCTTCTGTATCTTTTTGGATATGGCATTTACCCACTTCCTCCTTCTAGGACCTTGGGCGGCCTCAACCAGCCATATTGGTGCAGCAGCTTCCTCACTCCTCCTCCGTCTTGAGCCAAGCTTTAGTGTGGCCACAGCAGTGCAGTCAGTGCTGGGGACAGGGTGGTGAATGGACCTTGGTCTAGGTGGCAAGGAGATTGGGGATAAAGTGGAGTTATTCCAGGGAATTTTGACTCACAGTTTCTGAGATTATGCATTAGCTGTTCAGTTGAAGGTAGGCCCTCAATCCTTTTTGGGTGATGGAGCTCTTTAACCATTAAGACTTGATTCTGGTTGGGGGCTTTGCCTAGGGGAGCCTTCCCTGACTCCTCAGGCTGGCCGCGTGGGCTAACACACGTAGGCACAGCATTGAGCACACTGTTTACTCTTGGTCCGTTCACAGGATTGTGTAAATGAGTCCCTTGGGAGCAAGGCTCCTTGCTACAGCCCTAGAGACTACCCAAGAGTCCAATGTGTAGTACGTGTATTGCTGAAAGACTGGATGGAAACACACACTAAGGATGGAAGATGCAAACATAGGGTGACAAAGTGAAGGGATGAGTTTTGAGCAGAAAGGCAAAGTCATTTTCTCTCGGTAAGCGGAAGAGGAGGAGTGCCAAGTCTTACTGGCACTCATGCCTTCCCAAAAAAGCAGGTTCTCAGGAAGATTTAAGAGGTCCGCTAGGGGTAACCATAGCCACATTTTCCTTTTGATTTCTATTTTCTGATCAAACTTAACCATTGCCGTATCCTGCTCAACCACCCTGTACCATTTTGAAGTCCCCTCGTAATTTACTACCTCAGCCTAGAGTTAAGAATCTTATCCTTTATAGGACAGGAAGCTAAAAGCCTGAACTTTGGTCTGGGCCTTCTTCATTGCTGAGTTCCCAGTGTCAAGTACATGGGAGGCGTGTAATTAATGTATTTGCTTGAACGAATACTTAACCCAGTCCTCTACTTACCTTCTATCCTCCCACTGTCCTCAGGTGAGTGATTGCTGTATTACTGGTGTATTCTGTGAGGCCAAATATGAACTTACATTTCACTCAAGTTTTCAATAAGTATTTACTCTGTTCAAGGCACTGTGTTGATAAAGGATACAAAGATAACCATTAGGCCAGGTATAGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCTGAGGCAGGAGGATGGCTTGAGCTCAGGCATTTAAGACCAGCCTAGGCAATACAGTGAGACCTCGTCTCTATTTTAAAATTATAAAAAATAAAATATTTTAAAAACTCCAAAGATAGCCATCAAGGAGACTTAACAAACAGCCCAGAAAGAGTTAAGACATGAACACACATAACTGCAGCAGAGAGACAGTCAAGCATGCCTTGAAAAATA
Task1_train_24741
The gene ITGA2B (integrin subunit alpha 2b), on Chromosome 17, contains a mutation. Does this mutation cause a disorder, or is it a benign change?
Pathogenic; Glanzmann thrombasthenia
CCTGGCCAACATAGTGAAACCCTGTCTCTACTAAAAATACAAAAATTAGCCGGGCATGGTGGCATGCACCTGTAATCCCAGCTACTCGGGAGGCTGAGACAGGAGAATCGTTTGAACCCAGGAGGCAGAGGTTGCAGTGAGCCGAGATCACCCCATTGCACTCCAGCCTGGGCAACGAGAGCGAAACTCCATCTCAAAAAAAAAGAAGAAAAAAAGTCTGGGCATGGTGGCTGAAGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGCGGGTGGATCACCTGAAGTTGGGAGTTCGAGACCACCCTGACCAACATGGAGAAACCTCGTCTCTACTAAAAATACAAAATTAGCCGGGTGTGGTGGCACATGCCTGTAATCCCAGCTACGCGGGAGGCTGTGGCAGGAGAATCGCTTGAACCCGGGAGGCAGAAGTTGCGGTGAGCCAGTGATTGTGCCATTGCACTCCAGCCTGGGCAACAAGAGCGAAACCCCATCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAAGAAGAAGAAGAAAAAAAGAATTGTCAGAGTTGATGAAAGAGGGCTGGACCCTTATCAAATGCCTCCCCCACACCTGCCTCCACTCTCCCCACTCACCCACTTCTCATTGATCAGACACTGGATGTGGGCCATCTTGGGAGGGGACTTGGAGTGAACTGGCTCTCTTCAGCAGAGGAAATCCCCTAAGTGGCTGACACTTGAAGGCTATCTGCCATTGCCACCCATTGCCACTCCCTGAAGCTGGTGGGCACAGTGTCTCTCACAATAGTAGCTCAGGGTACACGCTATGAAGAGGAGGAGCCAAGACTCTAATCTTGGCACTCTTGATTCTGAAGCCTGATCAATACTAATCATTAATGACCTATTGCTTCTTTTCAAATATTTATAATGTTGATGGAGATGAGGGAAATGGAACAGAAATGCAAGGTGCGGGAGGGTAGACAACTTTAGTTCTGCAAATCAATTTAGGACATGTGCTCCTCTCCACATTTCCTTTCTTTTTTTTTTTTTTTTTTTTTTGAGACAGAGTTTCGCTCTCGTTGCCCAGGCTGGAGTGCAATGGCATGATCTCGGCTCACCACAACCTCTGCCTCTCAGGTTCAAACGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGATTACAAGCATGCGGCACCACGCCCGGCTAATTTTTTTTTTTTTGAGACGGAGTGTCACTCTGTCACCCAGGCTGGAGTGCAGTGGCATGATCTCAGCTCACTGCAACCTCCACCTCCCGGGTTCAAGTGATTCTCCTACCTCAGCCTCCCGAGTAGCTGGGACTACAGGAGTGTGCCACCACGCTCAGCTAATTTTTGTATTTTTAATAGAGACAGGGTTTCACCATATTGGCCAGGCTGGTCTTGAACTCCTGACCTCATGATCTGCCCACCTCTGCCTCCCAAAGTGCTGGGATTGCAGGTGTGAGCCACTGTGCCTGGTCTCTTTTTTTTTTTTTTTTTTGTATTTTTAGTAGAGACGGGGTTTCTCCATGTTGGTCAGGCTGGTCTCGAATTCTCGACCTCAGGTGATCTGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCGCGCCCGGCCTCCTCTCTGCATTTCAAGGTGTTGAGGGTGGAGTGGTTCATACAACTGACCCTTGGGGAAAAAATAAAGCATCAACTCTTGTCTTCCCTTTGTTCTTGCTGTAGTTTTCAGTGCCCATCAGCCCACATGTGCCCTGCCCTTATACCTTCACCTGAGCCAGTCCCCTGGACCCCAACATTCTTGACAAGAAATCAACCTGAATAGGCCCCACAAGTCACCTTGCTCAACTGCTATCGCAAATGGGAAACTCGAAGCCCCCAGAAGCAGTGATGGGGAGGGGTCCTGCTCTCTCCCAATACCCCAACTTCCCTTACGGCTCACCTCCCATGGCTGTCCTTGTGGAAGTCCAGTGAAAATCCAAACTGGCTGCCATTGGGGCCTGCATAGAAGGTGAGCTGCACTGGGTCCAGGTTCAAGGCCCAGGCTGGAGGGGCAGCACAAGGTCCCAAGAGCAGCAGCACCCACTCCAGAAGCCAGAGGGCTTGCAGTGGACACAAAGCTCTGGCCATCTTCCTTCTTCCACAACCTCCCAGGCAGGAATGGGCCAGCTCCTCCTCCTTCCCTTCAGATTCCTCCACAGGAAGTCTTTTCTTATCAAACTGGAACCCCAAGTAACTTGCTGAGCAACGGGCAGAGCAAAGGGCTATAGCCCCTGGACTCATGGTGGCTAGAATTGCCAGGAAGTGGGTGAGGCCACCCAGAGGGTGGATGCTCATGGCTGAAAGCCATGACTCCTCCCCTTTCCTGAGAATAGTTTATTACCATGTCCTATTGGTTCTGCCTATCAATGATGTCTCTTGAATCTTTACCCCATCTCTACTACCACCGTGCTAGTCCAAGCCACCATCACTTTCTGCTTGGGATAGCGTGATTGTGAACTGGTCCATACTTGTCTACTCTAGCCTACAGTTCTAATCTCCTCCCTTCCCCCATCTGGCTGTACAGCTGTGGTGCTTTGTGACTTGGCCACAGGTCGGGGAAGGAGAAGGAAGCTGCTGCCCCCGATAAAACCTGAGGCTTCTGTATCTTTTTGGATATGGCATTTACCCACTTCCTCCTTCTAGGACCTTGGGCGGCCTCAACCAGCCATATTGGTGCAGCAGCTTCCTCACTCCTCCTCCGTCTTGAGCCAAGCTTTAGTGTGGCCACAGCAGTGCAGTCAGTGCTGGGGACAGGGTGGTGAATGGACCTTGGTCTAGGTGGCAAGGAGATTGGGGATAAAGTGGAGTTATTCCAGGGAATTTTGACTCACAGTTTCTGAGATTATGCATTAGCTGTTCAGTTGAAGGTAGGCCCTCAATCCTTTTTGGGTGATGGAGCTCTTTAACCATTAAGACTTGATTCTGGTTGGGGGCTTTGCCTAGGGGAGCCTTCCCTGACTCCTCAGGCTGGCCGCGTGGGCTAACACACGTAGGCACAGCATTGAGCACACTGTTTACTCTTGGTCCGTTCACAGGATTGTGTAAATGAGTCCCTTGGGAGCAAGGCTCCTTGCTACAGCCCTAGAGACTACCCAAGAGTCCAATGTGTAGTACGTGTATTGCTGAAAGACTGGATGGAAACACACACTAAGGATGGAAGATGCAAACATAGGGTGACAAAGTGAAGGGATGAGTTTTGAGCAGAAAGGCAAAGTCATTTTCTCTCGGTAAGCGGAAGAGGAGGAGTGCCAAGTCTTACTGGCACTCATGCCTTCCCAAAAAAGCAGGTTCTCAGGAAGATTTAAGAGGTCCGCTAGGGGTAACCATAGCCACATTTTCCTTTTGATTTCTATTTTCTGATCAAACTTAACCATTGCCGTATCCTGCTCAACCACCCTGTACCATTTTGAAGTCCCCTCGTAATTTACTACCTCAGCCTAGAGTTAAGAATCTTATCCTTTATAGGACAGGAAGCTAAAAGCCTGAACTTTGGTCTGGGCCTTCTTCATTGCTGAGTTCCCAGTGTCAAGTACATGGGAGGCGTGTAATTAATGTATTTGCTTGAACGAATACTTAACCCAGTCCTCTACTTACCTTCTATCCTCCCACTGTCCTCAGGTGAGTGATTGCTGTATTACTGGTGTATTCTGTGAGGCCAAATATGAACTTACATTTCACTCAAGTTTTCAATAAGTATTTACTCTGTTCAAGGCACTGTGTTGATAAAGGATACAAAGATAACCATTAGGCCAGGTATAGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCTGAGGCAGGAGGATGGCTTGAGCTCAGGCATTTAAGACCAGCCTAGGCAATACAGTGAGACCTCGTCTCTATTTTAAAATTATAAAAAATAAAATATTTTAAAAACTCCAAAGATAGCCATCAAGGAGACTTAACAAACAGCCCAGAAAGAGTTAAGACATGAACACACATAACTGCAGCAGAGAGACAGTCAAGCATGCCTTGAAAAATACACAGATTATCAAAGTCGTATATCATTGTTACTC
CCTGGCCAACATAGTGAAACCCTGTCTCTACTAAAAATACAAAAATTAGCCGGGCATGGTGGCATGCACCTGTAATCCCAGCTACTCGGGAGGCTGAGACAGGAGAATCGTTTGAACCCAGGAGGCAGAGGTTGCAGTGAGCCGAGATCACCCCATTGCACTCCAGCCTGGGCAACGAGAGCGAAACTCCATCTCAAAAAAAAAGAAGAAAAAAAGTCTGGGCATGGTGGCTGAAGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGCGGGTGGATCACCTGAAGTTGGGAGTTCGAGACCACCCTGACCAACATGGAGAAACCTCGTCTCTACTAAAAATACAAAATTAGCCGGGTGTGGTGGCACATGCCTGTAATCCCAGCTACGCGGGAGGCTGTGGCAGGAGAATCGCTTGAACCCGGGAGGCAGAAGTTGCGGTGAGCCAGTGATTGTGCCATTGCACTCCAGCCTGGGCAACAAGAGCGAAACCCCATCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAAGAAGAAGAAGAAAAAAAGAATTGTCAGAGTTGATGAAAGAGGGCTGGACCCTTATCAAATGCCTCCCCCACACCTGCCTCCACTCTCCCCACTCACCCACTTCTCATTGATCAGACACTGGATGTGGGCCATCTTGGGAGGGGACTTGGAGTGAACTGGCTCTCTTCAGCAGAGGAAATCCCCTAAGTGGCTGACACTTGAAGGCTATCTGCCATTGCCACCCATTGCCACTCCCTGAAGCTGGTGGGCACAGTGTCTCTCACAATAGTAGCTCAGGGTACACGCTATGAAGAGGAGGAGCCAAGACTCTAATCTTGGCACTCTTGATTCTGAAGCCTGATCAATACTAATCATTAATGACCTATTGCTTCTTTTCAAATATTTATAATGTTGATGGAGATGAGGGAAATGGAACAGAAATGCAAGGTGCGGGAGGGTAGACAACTTTAGTTCTGCAAATCAATTTAGGACATGTGCTCCTCTCCACATTTCCTTTCTTTTTTTTTTTTTTTTTTTTTTGAGACAGAGTTTCGCTCTCGTTGCCCAGGCTGGAGTGCAATGGCATGATCTCGGCTCACCACAACCTCTGCCTCTCAGGTTCAAACGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGATTACAAGCATGCGGCACCACGCCCGGCTAATTTTTTTTTTTTTGAGACGGAGTGTCACTCTGTCACCCAGGCTGGAGTGCAGTGGCATGATCTCAGCTCACTGCAACCTCCACCTCCCGGGTTCAAGTGATTCTCCTACCTCAGCCTCCCGAGTAGCTGGGACTACAGGAGTGTGCCACCACGCTCAGCTAATTTTTGTATTTTTAATAGAGACAGGGTTTCACCATATTGGCCAGGCTGGTCTTGAACTCCTGACCTCATGATCTGCCCACCTCTGCCTCCCAAAGTGCTGGGATTGCAGGTGTGAGCCACTGTGCCTGGTCTCTTTTTTTTTTTTTTTTTTGTATTTTTAGTAGAGACGGGGTTTCTCCATGTTGGTCAGGCTGGTCTCGAATTCTCGACCTCAGGTGATCTGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCGCGCCCGGCCTCCTCTCTGCATTTCAAGGTGTTGAGGGTGGAGTGGTTCATACAACTGACCCTTGGGGAAAAAATAAAGCATCAACTCTTGTCTTCCCTTTGTTCTTGCTGTAGTTTTCAGTGCCCATCAGCCCACATGTGCCCTGCCCTTATACCTTCACCTGAGCCAGTCCCCTGGACCCCAACATTCTTGACAAGAAATCAACCTGAATAGGCCCCACAAGTCACCTTGCTCAACTGCTATCGCAAATGGGAAACTCGAAGCCCCCAGAAGCAGTGATGGGGAGGGGTCCTGCTCTCTCCCAATACCCCAACTTCCCTTACGGCTCACCTCCCATGGCTGTCCTTGTGGAAGTCCAGTGAAAATCCAAACTGGCTGCCATTGGGGCCTGCATAGAAGGTGAGCTGCACTGGGTCCAGGTCCAAGGCCCAGGCTGGAGGGGCAGCACAAGGTCCCAAGAGCAGCAGCACCCACTCCAGAAGCCAGAGGGCTTGCAGTGGACACAAAGCTCTGGCCATCTTCCTTCTTCCACAACCTCCCAGGCAGGAATGGGCCAGCTCCTCCTCCTTCCCTTCAGATTCCTCCACAGGAAGTCTTTTCTTATCAAACTGGAACCCCAAGTAACTTGCTGAGCAACGGGCAGAGCAAAGGGCTATAGCCCCTGGACTCATGGTGGCTAGAATTGCCAGGAAGTGGGTGAGGCCACCCAGAGGGTGGATGCTCATGGCTGAAAGCCATGACTCCTCCCCTTTCCTGAGAATAGTTTATTACCATGTCCTATTGGTTCTGCCTATCAATGATGTCTCTTGAATCTTTACCCCATCTCTACTACCACCGTGCTAGTCCAAGCCACCATCACTTTCTGCTTGGGATAGCGTGATTGTGAACTGGTCCATACTTGTCTACTCTAGCCTACAGTTCTAATCTCCTCCCTTCCCCCATCTGGCTGTACAGCTGTGGTGCTTTGTGACTTGGCCACAGGTCGGGGAAGGAGAAGGAAGCTGCTGCCCCCGATAAAACCTGAGGCTTCTGTATCTTTTTGGATATGGCATTTACCCACTTCCTCCTTCTAGGACCTTGGGCGGCCTCAACCAGCCATATTGGTGCAGCAGCTTCCTCACTCCTCCTCCGTCTTGAGCCAAGCTTTAGTGTGGCCACAGCAGTGCAGTCAGTGCTGGGGACAGGGTGGTGAATGGACCTTGGTCTAGGTGGCAAGGAGATTGGGGATAAAGTGGAGTTATTCCAGGGAATTTTGACTCACAGTTTCTGAGATTATGCATTAGCTGTTCAGTTGAAGGTAGGCCCTCAATCCTTTTTGGGTGATGGAGCTCTTTAACCATTAAGACTTGATTCTGGTTGGGGGCTTTGCCTAGGGGAGCCTTCCCTGACTCCTCAGGCTGGCCGCGTGGGCTAACACACGTAGGCACAGCATTGAGCACACTGTTTACTCTTGGTCCGTTCACAGGATTGTGTAAATGAGTCCCTTGGGAGCAAGGCTCCTTGCTACAGCCCTAGAGACTACCCAAGAGTCCAATGTGTAGTACGTGTATTGCTGAAAGACTGGATGGAAACACACACTAAGGATGGAAGATGCAAACATAGGGTGACAAAGTGAAGGGATGAGTTTTGAGCAGAAAGGCAAAGTCATTTTCTCTCGGTAAGCGGAAGAGGAGGAGTGCCAAGTCTTACTGGCACTCATGCCTTCCCAAAAAAGCAGGTTCTCAGGAAGATTTAAGAGGTCCGCTAGGGGTAACCATAGCCACATTTTCCTTTTGATTTCTATTTTCTGATCAAACTTAACCATTGCCGTATCCTGCTCAACCACCCTGTACCATTTTGAAGTCCCCTCGTAATTTACTACCTCAGCCTAGAGTTAAGAATCTTATCCTTTATAGGACAGGAAGCTAAAAGCCTGAACTTTGGTCTGGGCCTTCTTCATTGCTGAGTTCCCAGTGTCAAGTACATGGGAGGCGTGTAATTAATGTATTTGCTTGAACGAATACTTAACCCAGTCCTCTACTTACCTTCTATCCTCCCACTGTCCTCAGGTGAGTGATTGCTGTATTACTGGTGTATTCTGTGAGGCCAAATATGAACTTACATTTCACTCAAGTTTTCAATAAGTATTTACTCTGTTCAAGGCACTGTGTTGATAAAGGATACAAAGATAACCATTAGGCCAGGTATAGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCTGAGGCAGGAGGATGGCTTGAGCTCAGGCATTTAAGACCAGCCTAGGCAATACAGTGAGACCTCGTCTCTATTTTAAAATTATAAAAAATAAAATATTTTAAAAACTCCAAAGATAGCCATCAAGGAGACTTAACAAACAGCCCAGAAAGAGTTAAGACATGAACACACATAACTGCAGCAGAGAGACAGTCAAGCATGCCTTGAAAAATACACAGATTATCAAAGTCGTATATCATTGTTACTC
Task1_train_24742
A variant found in Chromosome 17 affects EFTUD2 (elongation factor Tu GTP binding domain containing 2). Please analyze its biological impact: is it benign or pathogenic, and what condition might it cause?
Pathogenic; not provided
ATTGCTTGAACCTGGGAGGCGGAGGCTACAGTGGGCTGAGATCCGCCACTGCACTCCAGCCCGGGTGACAGAGTGAGACTCTGTCTCAAAAAAAAAAAAAAAAAAAAAAAAGGACTGTGAATTAAGTTCTCCTGTTCTGGGCTCCACATCACATGCTTGGTGAAGCCCCTATACTGAGCCATCTTCCCTGTTTAGGCTCCTGTCCCAGGCCTGTGGGGACAGTGTCTCATGACAGTTTGCCCTAGGGGTGAGAAAAATCATGCAACAGAACAGATGTTGAATTTCTCTTCCTCTTGAGATTAAAAAGCAGACAGCCACTTGCTAACTGTGTGACAGTGGACAAATCTTTCTCACTGAGCCTCAGTTTCCTGATGTGTAACATGACAATAACCACCCCTGGCCTGCCTACCTTGCAGGCTGCTGTGAGGTTTCTCAGATACACAATACATGTGAAAGTGTTTCGTGAACTGTCAGATAAGTGGTTTCCCCAGGTTGTGTGGTCAGATGCTTGAAGCAGCTGTTGGGACCTGGGGCAGAAAGATGAGCGGGAAGCTGGACTCTCAAGGGAGCAGCTAGAGGTGAACCCCTAGGACGCCTGAGAGCCAGAGGACGGGTGAAGGGTTTGATGCCAAGGGGCATTATTTCTTTTCTCTCACACAGGTGCTGTGTACACAATGTACAGCGATTACGTCAAGAGGATGGCACAGGATGCTGGAGAGAAGTAGGACTCCTATAGGAGCCGGGGCTGTCCAACTCCCCTAACTCAATCCCTGGTACATTCCTAATAAAGCAGTTTTGAGGAAAATCAACAGACTCTTTTTCACTGGGGGAGAACAGAGTAAGGGACTGGTGGTAGCTGGGGAGAGGACTTGGAGTAAATGGCTGGAAATCAAAGTGCTCTGGCCCCCTACTCCAGGGCAAGGAAGATTCTTAGGGGAGGCAGCAGTTTCCTGAGGAGGTGGTGGGGTAGACTTCTGATCGCAGGAACCCAACAACTCCCAAGCCATCTTAGGTTCCACCCAGAAGCAGCATGGAGTGGGAGCAAGGGGGCAATAATGGGGCCTTGGCGCTCATGGGAACACTGAATTAAAAGGCAGGCGGCTTCCCTGGGGACCCAGGCAGGAAGGAGGCTGCAGCTGGAAGCAGAGGCAGTGAAGCCTCTTGGGAGATGACATATATTCAGAATGTAAGCACCAGACGGGGCAGGGGAGACGAGGATGAAAGGAGCAGAGCAAGACAGAGGTCAGAATGTTCTGTTCACTTGCAAACCATGGCTAAGGTCAAACTTGTAGAAAATAAAATTCCATGTAAATCCCAAAGATAGGGCCCCTTGGGGTTTCATCCCCTTCTCTTTCTGTGAGCCCAAGCTCCTCTCTTTTCCTTGGGAATGGAGCCCGGCAGAGGCCACAGAAGGAAGCAGGAGGCCAAATGCTCCTCTCTCACTGGGGCTCTGGGTTGGAGGTTGGTGAGTTGTTCAAGATGGCAACAGCAGCTTCCAGACACTCTCTGACAACACGAAGGCCACGTCATATGAGGTCTCAGCTTCAAGTACAGGAGTTGCAGCCCACTGTAGGGAGCAGGAGCTCCCAGGAGTCCACGCACTCACATGGGGTAATTGAGCACAACATCCTGTTTGGCAAGTTCCAGCAACATAGGATCATCGAAGAATTTGCTGATGCTCACATCTTCACTGAGGCCCTGCAGGGAATGGGGCAAATATAAGAAAGCCCGAGGTGGTCGCAGACTAAGCAAGGAGACTATCCAAGACCTGTGTTCAGTGGGGAGGCTAGTGGTGGCTGGAATGTAGGTGGTGGTGTTTCAGGAGCCCTGCCTTTAGGGTACTATCACATGGGAGGATAAGGCTCTCCTTTCCCAACGAGACTGGGGCCCAGGTTTGGTTGCCTAAGGAGTATACAGATCATATCTCTACATTGGAAAAGTGTCCCTTAGGAAAAGGGGCCAAAAGAAAGAGAGAGAGATCCTGCTTCTGAGAGTCCTGGGGGGTTGAGGGATGGCAACAGGCCCAAGGGAGACATACCTTCCTACGGCGGGTTTTGATCATGAATTCCCGGGCCAGGTGAGGAGCTGGCTGTGGCTCCAAGGGGCGGATGACAATGCTCTTGTCCAGGGGATCACCAGGCACAATCTAAAAGGCAAAGGAATTTCAGATGGCCCAGGCAGAATTCCCAGAAGATTCAGGCCCAGAAGCAGGACTCTTCTTATTTATTTTATTCCTAAATTTATTACTTATTATTATTTTTTTGAGATGGAGTTTCGCTCTTGTCTCCCAGGCTGGAGTACAATGGCATGATCTCGGCTCAATGCAACCTCCGCCTCCCGGGTTCAAGCGATTCTCCTACCTCAGCCTCCCAAGTAGCTGGGATTACAGGCATGCACCACCACGCCTAGCTAATTTTATATTTTTAGTACAGATGGGGTTTCTGCATGTTGGTCAAGCTGGTCTCGAACTCCTGACCTCAGGTGACCTGCCCGCCTCAGCCTCCCAAAGTGCTGGGATTACAGGTGTGAACCACCATAGCCGGCCCTATTATTTCTTTTTTTTTTTTTAAACTGAGAGACACAGATTCAAGTTGCCCTGAATATATGCTCCCCAGAGGAGGACTCTTCTCCAGGATGCTGTACACCTCACTTAGGGCTTGGAGAGGGATCAGGACAGAAGGGGATGAGGCTTGCAGAGGTGGGAAGCCAAGTCCGCCAGCCTGCATTGCTTTCTCACCTGCCAGTGGTGGAAGACAGACAGAGAAAAGGCTTGTCCCTGGGTGTGAGTCCGGAGATCAGTCTCAAAGCCAAAAGAGTCGATGGCCGGGATAAAAGCTTTGATGGTGTACAGAGGGGAGCCTGGGATGGGTGCATCCTGAGTCACGTGCCCCCTGAGACAGAAAAACAAAGGCTGAGCCTCTAGTCAAACATAGGCCAAAAGCCAAGAAGCAATCCAGCATTTGCTGTCCCCCAAATGCATTCCAGCCCAGAGTTACCATCAAAGAAAGAGTAACCAAGAATGTTCTACAAAAAGCAGAAAAGGCTCAGGGCTCTCAGTATAATTCCCTGTGGAAGTCAAAGTGGCAGCAACCTCTGGGCAGAGGACAGGAGTGGGATGGTGAAGGGACAAGGGCCCAAAGACATTCCCATCACTGACTTGCCTCAGCACTGCCTCCAACAGCTCTGTGAGGAGGGGATCCCAAAAGAAATGTCAATTTTTTTTTTTTGAGACAGAGCCTTGCTCTGTCGCCCAGGCTGGAATGCAGTGGCGCCATCTCGGCTCACTGCAAGCTCCGCCTCCTGGGTTCACGCCATTCTCCTGACTCAGCCTCCCAAGTAGCTGGGACTACAGGCACCCGCCACCACGCCCAGCTAATTTTTTGTATTTTTAGTAGAGACGGGGTTTCACTGTGTTAGCCAGGATGGAGAAATGTCAAATTTTAATCTGCAGAAAAGCGGGGGCTTGCCTCCCTCCGCTCCTACTTCTTTCTGGAAAATCAGCTCTCGGGGTTTCCAGAGAGAGGAGGGTAGAGAAGGCCAACCTCTCTTCCCTGTAGGAGCCGAGGTGACTCTTGTTCTGCTCTTGCTCTCAGCACTCTCCCTAATACGCCTGGGGCCGCTCACCTGCGCCTGGCCAGGACGGTATAAACTGCAGAGACGCAATCTGCAGGGGCCTGGACCTCTACAAAGTAGTAAGGCTCCATCAGACGAGGAGTAGCCTGCAGCAGAGCAAGAAGAAAGGCCCCTCAGCTTGGGGAAGGCTGGGGGCCTATAGTCCCACTTGCTCCTTCACTTAGTCCCCTGTCCAGTGAAGCAGATGGTCCCCTACCGCCCCATTCTCTTACCATGAGGAAGGCAGAGTAGACGACTCTCCTGGCTGTGGGGATGATCTGGCCCCCGCCCCGGTGCAGGGGCTCCTGGGCAACCACCGCATCCAGGATCTTAAACTTGACATTCCGAATCACTGTAAAGGAGGTGGAGGGAGTGACTGGGGAGAGGTTCTGGGCCTGTCATGGGGCCATGGCAGAGTAGCAGTCTCCTGCAACACTGCAGCTGTCTTGCAGTCATGAAAGACATGGTACAGAAATCAAATGGG
ATTGCTTGAACCTGGGAGGCGGAGGCTACAGTGGGCTGAGATCCGCCACTGCACTCCAGCCCGGGTGACAGAGTGAGACTCTGTCTCAAAAAAAAAAAAAAAAAAAAAAAAGGACTGTGAATTAAGTTCTCCTGTTCTGGGCTCCACATCACATGCTTGGTGAAGCCCCTATACTGAGCCATCTTCCCTGTTTAGGCTCCTGTCCCAGGCCTGTGGGGACAGTGTCTCATGACAGTTTGCCCTAGGGGTGAGAAAAATCATGCAACAGAACAGATGTTGAATTTCTCTTCCTCTTGAGATTAAAAAGCAGACAGCCACTTGCTAACTGTGTGACAGTGGACAAATCTTTCTCACTGAGCCTCAGTTTCCTGATGTGTAACATGACAATAACCACCCCTGGCCTGCCTACCTTGCAGGCTGCTGTGAGGTTTCTCAGATACACAATACATGTGAAAGTGTTTCGTGAACTGTCAGATAAGTGGTTTCCCCAGGTTGTGTGGTCAGATGCTTGAAGCAGCTGTTGGGACCTGGGGCAGAAAGATGAGCGGGAAGCTGGACTCTCAAGGGAGCAGCTAGAGGTGAACCCCTAGGACGCCTGAGAGCCAGAGGACGGGTGAAGGGTTTGATGCCAAGGGGCATTATTTCTTTTCTCTCACACAGGTGCTGTGTACACAATGTACAGCGATTACGTCAAGAGGATGGCACAGGATGCTGGAGAGAAGTAGGACTCCTATAGGAGCCGGGGCTGTCCAACTCCCCTAACTCAATCCCTGGTACATTCCTAATAAAGCAGTTTTGAGGAAAATCAACAGACTCTTTTTCACTGGGGGAGAACAGAGTAAGGGACTGGTGGTAGCTGGGGAGAGGACTTGGAGTAAATGGCTGGAAATCAAAGTGCTCTGGCCCCCTACTCCAGGGCAAGGAAGATTCTTAGGGGAGGCAGCAGTTTCCTGAGGAGGTGGTGGGGTAGACTTCTGATCGCAGGAACCCAACAACTCCCAAGCCATCTTAGGTTCCACCCAGAAGCAGCATGGAGTGGGAGCAAGGGGGCAATAATGGGGCCTTGGCGCTCATGGGAACACTGAATTAAAAGGCAGGCGGCTTCCCTGGGGACCCAGGCAGGAAGGAGGCTGCAGCTGGAAGCAGAGGCAGTGAAGCCTCTTGGGAGATGACATATATTCAGAATGTAAGCACCAGACGGGGCAGGGGAGACGAGGATGAAAGGAGCAGAGCAAGACAGAGGTCAGAATGTTCTGTTCACTTGCAAACCATGGCTAAGGTCAAACTTGTAGAAAATAAAATTCCATGTAAATCCCAAAGATAGGGCCCCTTGGGGTTTCATCCCCTTCTCTTTCTGTGAGCCCAAGCTCCTCTCTTTTCCTTGGGAATGGAGCCCGGCAGAGGCCACAGAAGGAAGCAGGAGGCCAAATGCTCCTCTCTCACTGGGGCTCTGGGTTGGAGGTTGGTGAGTTGTTCAAGATGGCAACAGCAGCTTCCAGACACTCTCTGACAACACGAAGGCCACGTCATATGAGGTCTCAGCTTCAAGTACAGGAGTTGCAGCCCACTGTAGGGAGCAGGAGCTCCCAGGAGTCCACGCACTCACATGGGGTAATTGAGCACAACATCCTGTTTGGCAAGTTCCAGCAACATAGGATCATCGAAGAATTTGCTGATGCTCACATCTTCACTGAGGCCCTGCAGGGAATGGGGCAAATATAAGAAAGCCCGAGGTGGTCGCAGACTAAGCAAGGAGACTATCCAAGACCTGTGTTCAGTGGGGAGGCTAGTGGTGGCTGGAATGTAGGTGGTGGTGTTTCAGGAGCCCTGCCTTTAGGGTACTATCACATGGGAGGATAAGGCTCTCCTTTCCCAACGAGACTGGGGCCCAGGTTTGGTTGCCTAAGGAGTATACAGATCATATCTCTACATTGGAAAAGTGTCCCTTAGGAAAAGGGGCCAAAAGAAAGAGAGAGAGATCCTGCTTCTGAGAGTCCTGGGGGGTTGAGGGATGGCAACAGGCCCAAGGGAGACATACCTTCCTACGGTGGGTTTTGATCATGAATTCCCGGGCCAGGTGAGGAGCTGGCTGTGGCTCCAAGGGGCGGATGACAATGCTCTTGTCCAGGGGATCACCAGGCACAATCTAAAAGGCAAAGGAATTTCAGATGGCCCAGGCAGAATTCCCAGAAGATTCAGGCCCAGAAGCAGGACTCTTCTTATTTATTTTATTCCTAAATTTATTACTTATTATTATTTTTTTGAGATGGAGTTTCGCTCTTGTCTCCCAGGCTGGAGTACAATGGCATGATCTCGGCTCAATGCAACCTCCGCCTCCCGGGTTCAAGCGATTCTCCTACCTCAGCCTCCCAAGTAGCTGGGATTACAGGCATGCACCACCACGCCTAGCTAATTTTATATTTTTAGTACAGATGGGGTTTCTGCATGTTGGTCAAGCTGGTCTCGAACTCCTGACCTCAGGTGACCTGCCCGCCTCAGCCTCCCAAAGTGCTGGGATTACAGGTGTGAACCACCATAGCCGGCCCTATTATTTCTTTTTTTTTTTTTAAACTGAGAGACACAGATTCAAGTTGCCCTGAATATATGCTCCCCAGAGGAGGACTCTTCTCCAGGATGCTGTACACCTCACTTAGGGCTTGGAGAGGGATCAGGACAGAAGGGGATGAGGCTTGCAGAGGTGGGAAGCCAAGTCCGCCAGCCTGCATTGCTTTCTCACCTGCCAGTGGTGGAAGACAGACAGAGAAAAGGCTTGTCCCTGGGTGTGAGTCCGGAGATCAGTCTCAAAGCCAAAAGAGTCGATGGCCGGGATAAAAGCTTTGATGGTGTACAGAGGGGAGCCTGGGATGGGTGCATCCTGAGTCACGTGCCCCCTGAGACAGAAAAACAAAGGCTGAGCCTCTAGTCAAACATAGGCCAAAAGCCAAGAAGCAATCCAGCATTTGCTGTCCCCCAAATGCATTCCAGCCCAGAGTTACCATCAAAGAAAGAGTAACCAAGAATGTTCTACAAAAAGCAGAAAAGGCTCAGGGCTCTCAGTATAATTCCCTGTGGAAGTCAAAGTGGCAGCAACCTCTGGGCAGAGGACAGGAGTGGGATGGTGAAGGGACAAGGGCCCAAAGACATTCCCATCACTGACTTGCCTCAGCACTGCCTCCAACAGCTCTGTGAGGAGGGGATCCCAAAAGAAATGTCAATTTTTTTTTTTTGAGACAGAGCCTTGCTCTGTCGCCCAGGCTGGAATGCAGTGGCGCCATCTCGGCTCACTGCAAGCTCCGCCTCCTGGGTTCACGCCATTCTCCTGACTCAGCCTCCCAAGTAGCTGGGACTACAGGCACCCGCCACCACGCCCAGCTAATTTTTTGTATTTTTAGTAGAGACGGGGTTTCACTGTGTTAGCCAGGATGGAGAAATGTCAAATTTTAATCTGCAGAAAAGCGGGGGCTTGCCTCCCTCCGCTCCTACTTCTTTCTGGAAAATCAGCTCTCGGGGTTTCCAGAGAGAGGAGGGTAGAGAAGGCCAACCTCTCTTCCCTGTAGGAGCCGAGGTGACTCTTGTTCTGCTCTTGCTCTCAGCACTCTCCCTAATACGCCTGGGGCCGCTCACCTGCGCCTGGCCAGGACGGTATAAACTGCAGAGACGCAATCTGCAGGGGCCTGGACCTCTACAAAGTAGTAAGGCTCCATCAGACGAGGAGTAGCCTGCAGCAGAGCAAGAAGAAAGGCCCCTCAGCTTGGGGAAGGCTGGGGGCCTATAGTCCCACTTGCTCCTTCACTTAGTCCCCTGTCCAGTGAAGCAGATGGTCCCCTACCGCCCCATTCTCTTACCATGAGGAAGGCAGAGTAGACGACTCTCCTGGCTGTGGGGATGATCTGGCCCCCGCCCCGGTGCAGGGGCTCCTGGGCAACCACCGCATCCAGGATCTTAAACTTGACATTCCGAATCACTGTAAAGGAGGTGGAGGGAGTGACTGGGGAGAGGTTCTGGGCCTGTCATGGGGCCATGGCAGAGTAGCAGTCTCCTGCAACACTGCAGCTGTCTTGCAGTCATGAAAGACATGGTACAGAAATCAAATGGG
Task1_train_24743
This gene mutation involves EFTUD2 (elongation factor Tu GTP binding domain containing 2) on Chromosome 17. Is it associated with any clinical condition, or is it benign?
Pathogenic; Mandibulofacial dysostosis-microcephaly syndrome
GGCGTTTCAGCAAAGCACTTGAGGGAGGATGTTTCCACCACCGTCTCACAAAACGTGACAACTGGGTCAGCCACCTGGGAAACAGAAAATAAATTACTGAAGCGAGGTCTAATTTTGTTGGAAGGGCAACCATTTACCTAAGGGAATTCAGAAGCTCCCTTGACACTACCTCTGTGAAAACCCCAACTGCCTTAATCAGCACAAGTGATAAGTACAACAGCAGGTTAAAAGAGCTGTCCAAATCATCACCAAAAAGCCCAAGAAAACTTACTGTAGTAAAGAAATTAGATTCCTGAGCCAAGAGTAAGTGGGGTATCAAACTAGGGCCTTAATTCTAGTCTTCAAAGGTAGCTCTCAGCATCCATTCAGCCATCTACCACCATTCACTGAACAACCCCCATGGGTCTGACAGAGCTGGTGCTGAGACCCACTGGCGTGCACCCATGTCATTCTCAACCCACAGCATCTGAGTGAAGCTCTGCCCTGAAGCCCCAACATGGTCTGCTGCCCAGGAAACCCAGTGTTTTCTATGACACCAATCCTTCCTCCTTCCTAGATACATCAGTAGAGGAGTCTAAGAGGGGTATTGAGGGTCCTCCACAGGGCCTTGGAGAAAATACGACTCAACTAGGACAAGGAGGCCAAGCAACACATGGTTTGAGGGGCTACATCAAGGCTTGACAAAGAATCTGGGAGAGACAGTCCCCACCCTCTCCTTGAAACCACCCACTCTGAGACCTAATCACCACCCATGGGTTAATTGTTTAATTGTGCAATTATTTCCCTAACAAAGGACCAAGAATAACTTTGGCTTGGGAGCCTTTATTTTCTTTTTCCTTTTTTTTTTTTTTTTTTTGAGACAGAGTCTCGCCCTATCACCCAGGCTGGAGTGCAATGGTGCGATCTTGGCTCACTGCAACCTCTGCCACCCGGTTTCAAACAATTATCCTGTCTCAGCCTCCTGAGTAGCTGGGATTACAGGTGCCCGCCACCATGTCTGGCTAATTTTTGTATTTTTAGTAGAGACAGAGTTTCACCATGTTGGTCAGGCTGGTCTTGAACTCCTGACCTCAAGCAATCCAACCGCCTTGGACTTTCAAAGTGTTGGGGTTACAGGCGTGAGCCACCGTGCTCGGCCTGTTTTATTATTTTTCAATGCATTTATTTTTTGAGACAGGGTCTTGCTCTGTCACCCATGCTAGGGTGCAGTGGCATGATCGTAGCTCACTGCAGCCTCGAACTGCTGGGCTCAAGCAATCCTCCTGCTTCAGCCTGCGGAGTAGCTGGGACTATAGGTGCAAGCCACCACACCTGACTAATTTTTATTTTTTAGTTTTTTGAGACAGGGTATGACTCCATCTCAAAAAGGAGAGCAATGGCACAATGATTGCTCATTGCAGCCATGACCTCCTAGGCTCAGGTTGGAGAGCAATGGCACAATCACAGTTCATTGCAGCCTTGACAGTCTAGGTTCAGGTGATCCTCCCACCTAAGCCCCCCAGTAGCTGGACTACAGGTACATGCCACTGCACTGGGCTGGTTTGTAGAGACGAGGTTTCACTATGTTGCCCAGATTGGTCTCAAACTGGGCTCAAGCAATCCTCTCACCTCAGTCTCCCAAAGTGCTGCAATTACAGCAACGGACCACCATGCCCGGCCTGGCTATTTTTTTTATTTTAATTTTTGTAGAGGCAGTGTCTCACTTTGTTGCTCAGGTTGGTCTTGAATTCCTGGCTACAAGCAATCCTCCCACCTCGGCCTCCCAAAGTGCTGGGAGTGAGCCACCAAGCACGGCTGAGCCTTGATTTTAAACGTATGACACAGCAGAAGGGGGCAAACCAGTTCTCAAAAACCTTCCCATATAAGGAGCAACAGATCATGGTTTTCACAAACACATGTACTCTCTCTTCCCTTGGAGCTTCCCAGGAATTCAAGGATTTGGTCACTTGTGAAAAGTCTGGACCGTGAACCCAGCTCCCGGCAGATACTGCTGTACCTTGATGTCTATCTCTGAGTACATCTTCCGCAAATCATGCATCACACAGTCCAGGTAGAGCTCCCCAGTGCCCAGGATCACATGCTCGCCAGACTCCTCCACCTGAAACACAACAGGCAGTCACAGCCTGGATTCTCTTATGCCAGCAAAGGCACACACAAACAAAATCAAGGCCAGAGCAGACAAGAAGTTGCCTATCAGAAACAGCTACTACTTAGCATCTGTTCCAGCCTCTTCAAGAAGGTTCAGTGAGGAGCATCTGCCTATGAGTGGGTCCTCAAGACACCAGGACCACTCAGCATGGTGATACTAGGTGTGAAGTCAATGATTTAATTCCCATCTTAATGATTTAGGTCAAACTCTACCCTATACCCATGGACATAAGCTAGCCCTTTAGCCCTCCTGGCCTGCTACCTGGAAAGGTACACTGGCAGGCTCATAGTGTACAAGGATCAGAGTAACAACTCACTTTTCCTTCTCTTCTCGAGAAAATCAATTCAAAGTATACTCATTAAGAAATGTATTTTTGTCTAGATAAAGACATCTGCGGAACACAAATACGCACACACACACACACACACAACCTTGTCCTATACCCCCCATCACTGCCCCCTCCTACACAGGTCTTGTTTTAACACACACACATACACACACACACGTGTCTTGTCCTGCCTTGACATGACAGCCATAGGCTGGGCTTGCTCCTGACACAGCTTCCTGTAAGCAGCAGATCATGAACACCTGATGGATGGGAAGCGGTGTGCAGCTCTGCCCATTCAGCTGGGGATAGTGGGGCTTGGCGGCTGCTGCAGGCCATGGGCATACCTTGGTGGTGAGGGATGGATAGCTCTTGTTGACCTTGCGCAGGCCATCAAGCATCTTGGGCAGCTCTGAGGGGTTGACTGGCTCCACAGCAATCTTGATAACAGATGTGGTATTGAACTTCAAGGGTCGGAAAATCTGAGCCTGAGATCCAAAGCACAAAGGACTGAGGGCAACTGGCATGAGCAGGCACAGAAAGTGCAGAGGTATGAGAAGAGAAGAGGACTTGCTTAGGATCAGACTATGTATTCCCCAACCAGGAGCCTGGTGCTGAGTGGGGGTAACCTGAAGGGCCATTTCTTCCCAGGTATTCTGGCAGAACAAAGAGAGGAGGAAAATAATAAAAGGCACCCGTCCTAATTCCTCGCATCTGAACTGAGTACAGGGAGAATCCAGCAGGGTCATATCTAGAAGGCTAAGCCTGAAACCAGGACATGGCAATGACTGTGGATTAGTCCCGTTTGTGCTCATGTGTGTCCCTGGGACCATCTAGCTTAAGCCAACCCAGTTGGTCTCTTCAGAAACTCTACCTCCTCATTGCCTCGGGGTTCGGTTATGGTTGCTGTCTTCACAATTGGTTGATCAACACCTTCAATCAGAACCCAGTTGCCAGCAGGAACACGGTTCACCTCGATGTGGTACCTGAAGCAATGTCCAATAAGCAGCAGTGAAACTTAGGCAGAGCATTCCCTAATTTTTTTTTTTTTTTTTTTTTTGAGACAGGATCTCACTTTGTTACCAGGCTGGAGTGCAGTGGCACAATCTTGGCTCACTGCAGCCTCGAACTTCCAAGGTTCCAGTGATCCTTCTGCGTCAGCCCCCCAAGTAGCTGGGACTACAGGCACACACTAACATGCCCAACTAATTTTTGTATTTTTGTAGAGACGGGGTTTTTTCATGTTGTCTAGGCTGGTCTTGAACTCCTGAGCTCAAGCAATCCTCCTGCCTCAGCCTTCCAAAGTGCTAGGATTACAGGTGTGAGCCACCACATCCAGCCTATTCCACAAAAATTTACTGAGTACTTGCTGCGTGCCAAGAGCAGGGGTGAGCAAAACAGATACATTCTAGCAGGGGAGAGATACAGTAAACAATCATTATCCACACATGTATGTGGTTACAAACTGATGGGCATTATGAAAGAAAAGTACAAGGTATTTCTGTGAGGACATAAGAGGAAAATCTTATTCCAATTGCAGGCTCATGGTAAAAAGCTGCCCAAGGTGTCGACTGTAAGGGGCTAGCAAAAGCATCAAAGAAGGCCGGGTGTGGCGGCTCACG
GGCGTTTCAGCAAAGCACTTGAGGGAGGATGTTTCCACCACCGTCTCACAAAACGTGACAACTGGGTCAGCCACCTGGGAAACAGAAAATAAATTACTGAAGCGAGGTCTAATTTTGTTGGAAGGGCAACCATTTACCTAAGGGAATTCAGAAGCTCCCTTGACACTACCTCTGTGAAAACCCCAACTGCCTTAATCAGCACAAGTGATAAGTACAACAGCAGGTTAAAAGAGCTGTCCAAATCATCACCAAAAAGCCCAAGAAAACTTACTGTAGTAAAGAAATTAGATTCCTGAGCCAAGAGTAAGTGGGGTATCAAACTAGGGCCTTAATTCTAGTCTTCAAAGGTAGCTCTCAGCATCCATTCAGCCATCTACCACCATTCACTGAACAACCCCCATGGGTCTGACAGAGCTGGTGCTGAGACCCACTGGCGTGCACCCATGTCATTCTCAACCCACAGCATCTGAGTGAAGCTCTGCCCTGAAGCCCCAACATGGTCTGCTGCCCAGGAAACCCAGTGTTTTCTATGACACCAATCCTTCCTCCTTCCTAGATACATCAGTAGAGGAGTCTAAGAGGGGTATTGAGGGTCCTCCACAGGGCCTTGGAGAAAATACGACTCAACTAGGACAAGGAGGCCAAGCAACACATGGTTTGAGGGGCTACATCAAGGCTTGACAAAGAATCTGGGAGAGACAGTCCCCACCCTCTCCTTGAAACCACCCACTCTGAGACCTAATCACCACCCATGGGTTAATTGTTTAATTGTGCAATTATTTCCCTAACAAAGGACCAAGAATAACTTTGGCTTGGGAGCCTTTATTTTCTTTTTCCTTTTTTTTTTTTTTTTTTTGAGACAGAGTCTCGCCCTATCACCCAGGCTGGAGTGCAATGGTGCGATCTTGGCTCACTGCAACCTCTGCCACCCGGTTTCAAACAATTATCCTGTCTCAGCCTCCTGAGTAGCTGGGATTACAGGTGCCCGCCACCATGTCTGGCTAATTTTTGTATTTTTAGTAGAGACAGAGTTTCACCATGTTGGTCAGGCTGGTCTTGAACTCCTGACCTCAAGCAATCCAACCGCCTTGGACTTTCAAAGTGTTGGGGTTACAGGCGTGAGCCACCGTGCTCGGCCTGTTTTATTATTTTTCAATGCATTTATTTTTTGAGACAGGGTCTTGCTCTGTCACCCATGCTAGGGTGCAGTGGCATGATCGTAGCTCACTGCAGCCTCGAACTGCTGGGCTCAAGCAATCCTCCTGCTTCAGCCTGCGGAGTAGCTGGGACTATAGGTGCAAGCCACCACACCTGACTAATTTTTATTTTTTAGTTTTTTGAGACAGGGTATGACTCCATCTCAAAAAGGAGAGCAATGGCACAATGATTGCTCATTGCAGCCATGACCTCCTAGGCTCAGGTTGGAGAGCAATGGCACAATCACAGTTCATTGCAGCCTTGACAGTCTAGGTTCAGGTGATCCTCCCACCTAAGCCCCCCAGTAGCTGGACTACAGGTACATGCCACTGCACTGGGCTGGTTTGTAGAGACGAGGTTTCACTATGTTGCCCAGATTGGTCTCAAACTGGGCTCAAGCAATCCTCTCACCTCAGTCTCCCAAAGTGCTGCAATTACAGCAACGGACCACCATGCCCGGCCTGGCTATTTTTTTTATTTTAATTTTTGTAGAGGCAGTGTCTCACTTTGTTGCTCAGGTTGGTCTTGAATTCCTGGCTACAAGCAATCCTCCCACCTCGGCCTCCCAAAGTGCTGGGAGTGAGCCACCAAGCACGGCTGAGCCTTGATTTTAAACGTATGACACAGCAGAAGGGGGCAAACCAGTTCTCAAAAACCTTCCCATATAAGGAGCAACAGATCATGGTTTTCACAAACACATGTACTCTCTCTTCCCTTGGAGCTTCCCAGGAATTCAAGGATTTGGTCACTTGTGAAAAGTCTGGACCGTGAACCCAGCTCCCGGCAGATACTGCTGTACCTTGATGTCTATCTCTGAGTACATCTTCCGCAAATCATGCATCACACAGTCCCGGTAGAGCTCCCCAGTGCCCAGGATCACATGCTCGCCAGACTCCTCCACCTGAAACACAACAGGCAGTCACAGCCTGGATTCTCTTATGCCAGCAAAGGCACACACAAACAAAATCAAGGCCAGAGCAGACAAGAAGTTGCCTATCAGAAACAGCTACTACTTAGCATCTGTTCCAGCCTCTTCAAGAAGGTTCAGTGAGGAGCATCTGCCTATGAGTGGGTCCTCAAGACACCAGGACCACTCAGCATGGTGATACTAGGTGTGAAGTCAATGATTTAATTCCCATCTTAATGATTTAGGTCAAACTCTACCCTATACCCATGGACATAAGCTAGCCCTTTAGCCCTCCTGGCCTGCTACCTGGAAAGGTACACTGGCAGGCTCATAGTGTACAAGGATCAGAGTAACAACTCACTTTTCCTTCTCTTCTCGAGAAAATCAATTCAAAGTATACTCATTAAGAAATGTATTTTTGTCTAGATAAAGACATCTGCGGAACACAAATACGCACACACACACACACACACAACCTTGTCCTATACCCCCCATCACTGCCCCCTCCTACACAGGTCTTGTTTTAACACACACACATACACACACACACGTGTCTTGTCCTGCCTTGACATGACAGCCATAGGCTGGGCTTGCTCCTGACACAGCTTCCTGTAAGCAGCAGATCATGAACACCTGATGGATGGGAAGCGGTGTGCAGCTCTGCCCATTCAGCTGGGGATAGTGGGGCTTGGCGGCTGCTGCAGGCCATGGGCATACCTTGGTGGTGAGGGATGGATAGCTCTTGTTGACCTTGCGCAGGCCATCAAGCATCTTGGGCAGCTCTGAGGGGTTGACTGGCTCCACAGCAATCTTGATAACAGATGTGGTATTGAACTTCAAGGGTCGGAAAATCTGAGCCTGAGATCCAAAGCACAAAGGACTGAGGGCAACTGGCATGAGCAGGCACAGAAAGTGCAGAGGTATGAGAAGAGAAGAGGACTTGCTTAGGATCAGACTATGTATTCCCCAACCAGGAGCCTGGTGCTGAGTGGGGGTAACCTGAAGGGCCATTTCTTCCCAGGTATTCTGGCAGAACAAAGAGAGGAGGAAAATAATAAAAGGCACCCGTCCTAATTCCTCGCATCTGAACTGAGTACAGGGAGAATCCAGCAGGGTCATATCTAGAAGGCTAAGCCTGAAACCAGGACATGGCAATGACTGTGGATTAGTCCCGTTTGTGCTCATGTGTGTCCCTGGGACCATCTAGCTTAAGCCAACCCAGTTGGTCTCTTCAGAAACTCTACCTCCTCATTGCCTCGGGGTTCGGTTATGGTTGCTGTCTTCACAATTGGTTGATCAACACCTTCAATCAGAACCCAGTTGCCAGCAGGAACACGGTTCACCTCGATGTGGTACCTGAAGCAATGTCCAATAAGCAGCAGTGAAACTTAGGCAGAGCATTCCCTAATTTTTTTTTTTTTTTTTTTTTTGAGACAGGATCTCACTTTGTTACCAGGCTGGAGTGCAGTGGCACAATCTTGGCTCACTGCAGCCTCGAACTTCCAAGGTTCCAGTGATCCTTCTGCGTCAGCCCCCCAAGTAGCTGGGACTACAGGCACACACTAACATGCCCAACTAATTTTTGTATTTTTGTAGAGACGGGGTTTTTTCATGTTGTCTAGGCTGGTCTTGAACTCCTGAGCTCAAGCAATCCTCCTGCCTCAGCCTTCCAAAGTGCTAGGATTACAGGTGTGAGCCACCACATCCAGCCTATTCCACAAAAATTTACTGAGTACTTGCTGCGTGCCAAGAGCAGGGGTGAGCAAAACAGATACATTCTAGCAGGGGAGAGATACAGTAAACAATCATTATCCACACATGTATGTGGTTACAAACTGATGGGCATTATGAAAGAAAAGTACAAGGTATTTCTGTGAGGACATAAGAGGAAAATCTTATTCCAATTGCAGGCTCATGGTAAAAAGCTGCCCAAGGTGTCGACTGTAAGGGGCTAGCAAAAGCATCAAAGAAGGCCGGGTGTGGCGGCTCACG
Task1_train_24744
A variant affecting Chromosome 17, within the gene EFTUD2 (elongation factor Tu GTP binding domain containing 2), has been observed. Determine if it's benign or associated with disease.
Pathogenic; not provided
TTTAGGGAGTACAAATTCATATAAACGTCATGCTATATTCCCTTTTTTAGAGACAGGGTCTCACTCTGTCACCCAGCCTGGAGTGCAGTGGTGTGATCACGGCTCACTGCAACCTCCACCTCCTGGGCTCAAGTGATCCTCCTGCCTCAGCCCCCCAAGTAGTTGGGACCACAGGCACACACCACTACAACAGCTAATTCTATTTTGTGCGGAGATAAAGGGTTTAGCCATGTTGTCCAAGCTGGTCTTGAACTCCTGATCTCAAGCGATCTGCCCACTGGGACCTCCCAAAGTGCTGGAATTACAGGCGTGAGCAACCACATCCGGCCACGTTATATTCTTTGCTTCTCAGCATTCCACATGCTTAATTAAATCCTTACCATCTCCTGACAAATGATTTCAATCTGACAAGCATCACATATTGTGCAAACAGTTAAGAAAGCAAAGTTCATACGAACATGCTTTGTTTTGTTTTTTTCTGAGACAGGGTCTCACTCCATCACTCAGGCTGGAATGCAGTGGTGTGTGATCATGGATCACTGCAGCTTTGACCACCAGGGTTCAAGCAATCCTCTGGCCTCAGCCTCCTGAGTAGCTGGGACCACAAGTGCACACCACCAGTCCCAGTTGATTTATTTTATTTTTTTTGAGACGGAGTCTTGCTCTGTCACCCAGGCTGGAGTGCAGTGGCACAATCTCAGCTCACTGCAGCCTCTGCCTCAAGAGTAGCTGGGATTACAAGCATGAGCCACCACGCCTGGCTAATTTTTGTATTTTTAGTAGAAATGGGGTCTTGCCATGTTGCCCAGGCTGGTCTTGAACTCCTGGACTCAAGTGATCCTCCCGCCTTGGCCTCCCAAAGCGTCTGGATTACAGGCCTGAGCCACTGTGCCCAGCTCAGACATACTTTAAGTGGTTGCAAAGCGGTTCATTTTATGGGATGTACCATCACTCATTTAATCAGATTAATGAGCATAACTGACAAACATTTAACTTATTTCCAGTTTTTTCCCTTTTCCTGATGTTACAAACAATGCTATAAGCTGAGGTGGTGGACTCCTGCCTGTAAGCCCAGCACTTTGGGAGGCCAAGGCAGGAGGATCACTTGAGGCTACAAGTTTGAGACCAGCTTGGGGATAATGGCAAGACCCTGTCTCTACACAAAATTTTTTAAAAGTTAGCCAGGCATGGTAGCTTGCACCTGCAGTCCCAGCTTCTCAGGAGGCTGAGGTGGGAGGATTGCTCAAACCTAGGAGTTTGAAGCTGCAGTGAGCTATGATCGTGCTATTGCACTCCCACCTGGGCGACAGAGTGGGACCCTATCTCTAAAAATGCTATAATAAACACTTTGACTTATATGAATAAGCAGGAGGACTTTCACAATTATATCTGTAAGTTAAATTTCCGTAACTGAAATGATTAGTTCTAAGTGTCACATTCTTCTCAATAGTCAAGATCTGTTCATAAACCTGCTCTAGGAGAAGTCTTTTCTTTCATACCTTTTCCCTTTCCTTTGATTTTTTTTTTTTTTTTTTTGGTGACAGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGTGCAATCTCGGCTCACTGCAACCTCTGCCTCCTGAGTTCAAGCAATTCTCTTGCCTTAGCCTCCCGAGTAGCTGGGACTACAGGCGCCCGCCACCATGCCCAGCTAATTTTTTGTATTTTGGTGGAGACGGGGTTTCATCGTGTTGCCTAGGCTGGTCTCAAGCTCCTGAGCTCAGGCAATCTGCCCACCTCGGCCTCCCAAAGTGCTAGGATTACAGGCATGAGCCACCATGCCCGGGCCCCTTTCCTTTGATTTTAATAACACTTAGAGTAATGTAGTGTTCTGGATCCAGAAGATTACTTCTGGAACAATTAGTGACCAACAACCACCCTTATACTTGACATAAAACTGAGCAGGTTTAGGGACAGAGGGAAGTGTGAGTTCACCAGCTCTTCCACACTGTGCTTATAAGAGCAGATCTGCCCAGTGTGACCTGACACACTCACCTGGGCGAGGATCTTATAAAGAGGCTCCAAGATAAACTCCACGAAACTTCTCTGGGAGCTGCTAGTTGGGGCCTTTTTGGTGAACTTTCGCCTAAAAGGAAAAATAAGTTCTGAGTGACCCAGGGGAAAAGGCACTATCACTGATCCCAAGAGGCATTGTCTAAGTGCTGAATCTGAACAACAGCCCAGGGGAGGAATGTGTGTGTGACTGTAAAGTTTCCAGAGACAGATTCCTGGAAGGATACATGGTTATGACCCTCCTGGATGCCTGAGCTGGGCTGTAAAGACTTCAGGAGAAACAGCTTCTCACCAGATCAGAGCTTAGGAAGCCAACCCATTTAGGGGAGGAAAGACGGTAGTTTACATTAAAAAAAAAAAAAAAAGTAGGTATTTAATCTTTGAACTCAGAGAATTTCACTGTCCTCACTTACTGGGTAAATGATCACCCCTCTGGAAAGTCACGTCCCATACTCTACTTACGTCTTAGGGTTGAAGTAGATGTCACCCCAGAGTCTTTTAGCAAATTCTTGGTAATTAATGTCACCTATGGGAGAAGCCACACAATTATAATCTACCTAGCAAAGTGTCGTTCAAAATTCTGTTTCAGGTGCCACAGGTGGTTCATAGCTGAGAACTTCTAGCACTTTCCTTTCCAGGGTCCAGGCAGTTCCTTCTAACCAGAGAGGAAAACGAGGACACTGAGGCACAAAGAAGGACAAGACTGGTCCAAAGTTGACAAGGCTGTGCTGGAGCCAAAATGAGAACCCAAGCCTCTCCATCTCCACCAAGCACTAGGATTGAACTATGGACAAGAGCATGGGTTACATGTTTTCCTTCGATGGAACAGGGTCACCTACTGTGTGGCATCCTCTATCTGCATCTAAACCCTGTCCCTTCTGGAAGGGGAATTTAATGGTTCTTTCACCCTTTCCTGATGTAGACAAGCTCGACTCTGCTGCCAGTGTGGGCCACCTTCCAACTGCAGTGTCACCATAAGGTTCTGGCTAGCCCTAGGCCTCAGGTAAGCAATTACTCAGCCCTCTCGAGAGAAAACACCAAAGCCAACCTTTGGCTCATCTTTCACCAATTAATATTTTTAGTTTGACTATAACTGCTAATCCTGGTCAGACTGTACCAAACAACCATAGCTTTTAAAAGTCAAGACGTTGGGTGACATCCAATTAGATAACTGATAGCACCAACCACCTCCTGGATATTTCTACCCAGATGTCAGACTGTCCCCTCACCTTGTATGGGATAAAGGGAATGCACTGGCTTTTCCCGAAAGTCACATTCCCCTTCAGACTTCTCTGTCTCCATCAGTAAGGTTACCACCAAATTTTCAGCTAAACTCAAAATCTTTTTCTTCCCTACTCTGTTAATTACCAAATTCTCCCCTTCTTTCCCACATTGTTAGTTACTGAAACTTTCCTTCCTCTGAACCACTGAATGTTTATGCCCTCTGTTAATGCACTTACCATGCAGTATAATCACTGAACTTTTTTTCTTTGAGATGGGGTCTTGCTTTGTCATCCACACTGGAGTGCAGTGGCATAACCTTGGCTCCCTGCAGCCTCGACCTTCCTGGCTCATGCAATCCCCCCACCTCTGCCTCCCGAGTAGCTGGGACTACAGGTGTGCGCCATCACGGCCAGCTAATTTTTAAAATTTTTTGTAGAGACGAGGTCTTGCCATGTTGCCTAGGCTGGTTTTGAACTCCTGGCCTCAAGTGATCCTCTACTTTGGCCTCCCCAAGTGCTCGGATTACAGGCATGAGCCACTGGACCTAGCCTGAACTTGAACTCTTCTCCTTGGTTAAACATTCCACTGTTACCTGAACAGGCCATGACTAACACCACCTGCCTCTATGCCTCTTTCTCCAGCCCTGCAAGTCTGGAATTCTTGGCTTTCTACTCTTTATTTGCCCAAGCCCCATCTCTTTCCCTCGGCTTTACCTGACTCCAAGCCATTGAGGCTGAGCCCTACCCCACCCCTAAATTCTCTCAGCTGTATCTGCCTACAGCACTCAGCTCACACTATCACCTCACATTGCCATTCATCACTCTGTGG
TTTAGGGAGTACAAATTCATATAAACGTCATGCTATATTCCCTTTTTTAGAGACAGGGTCTCACTCTGTCACCCAGCCTGGAGTGCAGTGGTGTGATCACGGCTCACTGCAACCTCCACCTCCTGGGCTCAAGTGATCCTCCTGCCTCAGCCCCCCAAGTAGTTGGGACCACAGGCACACACCACTACAACAGCTAATTCTATTTTGTGCGGAGATAAAGGGTTTAGCCATGTTGTCCAAGCTGGTCTTGAACTCCTGATCTCAAGCGATCTGCCCACTGGGACCTCCCAAAGTGCTGGAATTACAGGCGTGAGCAACCACATCCGGCCACGTTATATTCTTTGCTTCTCAGCATTCCACATGCTTAATTAAATCCTTACCATCTCCTGACAAATGATTTCAATCTGACAAGCATCACATATTGTGCAAACAGTTAAGAAAGCAAAGTTCATACGAACATGCTTTGTTTTGTTTTTTTCTGAGACAGGGTCTCACTCCATCACTCAGGCTGGAATGCAGTGGTGTGTGATCATGGATCACTGCAGCTTTGACCACCAGGGTTCAAGCAATCCTCTGGCCTCAGCCTCCTGAGTAGCTGGGACCACAAGTGCACACCACCAGTCCCAGTTGATTTATTTTATTTTTTTTGAGACGGAGTCTTGCTCTGTCACCCAGGCTGGAGTGCAGTGGCACAATCTCAGCTCACTGCAGCCTCTGCCTCAAGAGTAGCTGGGATTACAAGCATGAGCCACCACGCCTGGCTAATTTTTGTATTTTTAGTAGAAATGGGGTCTTGCCATGTTGCCCAGGCTGGTCTTGAACTCCTGGACTCAAGTGATCCTCCCGCCTTGGCCTCCCAAAGCGTCTGGATTACAGGCCTGAGCCACTGTGCCCAGCTCAGACATACTTTAAGTGGTTGCAAAGCGGTTCATTTTATGGGATGTACCATCACTCATTTAATCAGATTAATGAGCATAACTGACAAACATTTAACTTATTTCCAGTTTTTTCCCTTTTCCTGATGTTACAAACAATGCTATAAGCTGAGGTGGTGGACTCCTGCCTGTAAGCCCAGCACTTTGGGAGGCCAAGGCAGGAGGATCACTTGAGGCTACAAGTTTGAGACCAGCTTGGGGATAATGGCAAGACCCTGTCTCTACACAAAATTTTTTAAAAGTTAGCCAGGCATGGTAGCTTGCACCTGCAGTCCCAGCTTCTCAGGAGGCTGAGGTGGGAGGATTGCTCAAACCTAGGAGTTTGAAGCTGCAGTGAGCTATGATCGTGCTATTGCACTCCCACCTGGGCGACAGAGTGGGACCCTATCTCTAAAAATGCTATAATAAACACTTTGACTTATATGAATAAGCAGGAGGACTTTCACAATTATATCTGTAAGTTAAATTTCCGTAACTGAAATGATTAGTTCTAAGTGTCACATTCTTCTCAATAGTCAAGATCTGTTCATAAACCTGCTCTAGGAGAAGTCTTTTCTTTCATACCTTTTCCCTTTCCTTTGATTTTTTTTTTTTTTTTTTTGGTGACAGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGTGCAATCTCGGCTCACTGCAACCTCTGCCTCCTGAGTTCAAGCAATTCTCTTGCCTTAGCCTCCCGAGTAGCTGGGACTACAGGCGCCCGCCACCATGCCCAGCTAATTTTTTGTATTTTGGTGGAGACGGGGTTTCATCGTGTTGCCTAGGCTGGTCTCAAGCTCCTGAGCTCAGGCAATCTGCCCACCTCGGCCTCCCAAAGTGCTAGGATTACAGGCATGAGCCACCATGCCCGGGCCCCTTTCCTTTGATTTTAATAACACTTAGAGTAATGTAGTGTTCTGGATCCAGAAGATTACTTCTGGAACAATTAGTGACCAACAACCACCCTTATACTTGACATAAAACTGAGCAGGTTTAGGGACAGAGGGAAGTGTGAGTTCACCAGCTCTTCCACACTGTGCTTATAAGAGCAGATCTGCCCAGTGTGACCTGACACACTCACCTGGGCGAGGATCTTATAAAGACGCTCCAAGATAAACTCCACGAAACTTCTCTGGGAGCTGCTAGTTGGGGCCTTTTTGGTGAACTTTCGCCTAAAAGGAAAAATAAGTTCTGAGTGACCCAGGGGAAAAGGCACTATCACTGATCCCAAGAGGCATTGTCTAAGTGCTGAATCTGAACAACAGCCCAGGGGAGGAATGTGTGTGTGACTGTAAAGTTTCCAGAGACAGATTCCTGGAAGGATACATGGTTATGACCCTCCTGGATGCCTGAGCTGGGCTGTAAAGACTTCAGGAGAAACAGCTTCTCACCAGATCAGAGCTTAGGAAGCCAACCCATTTAGGGGAGGAAAGACGGTAGTTTACATTAAAAAAAAAAAAAAAAGTAGGTATTTAATCTTTGAACTCAGAGAATTTCACTGTCCTCACTTACTGGGTAAATGATCACCCCTCTGGAAAGTCACGTCCCATACTCTACTTACGTCTTAGGGTTGAAGTAGATGTCACCCCAGAGTCTTTTAGCAAATTCTTGGTAATTAATGTCACCTATGGGAGAAGCCACACAATTATAATCTACCTAGCAAAGTGTCGTTCAAAATTCTGTTTCAGGTGCCACAGGTGGTTCATAGCTGAGAACTTCTAGCACTTTCCTTTCCAGGGTCCAGGCAGTTCCTTCTAACCAGAGAGGAAAACGAGGACACTGAGGCACAAAGAAGGACAAGACTGGTCCAAAGTTGACAAGGCTGTGCTGGAGCCAAAATGAGAACCCAAGCCTCTCCATCTCCACCAAGCACTAGGATTGAACTATGGACAAGAGCATGGGTTACATGTTTTCCTTCGATGGAACAGGGTCACCTACTGTGTGGCATCCTCTATCTGCATCTAAACCCTGTCCCTTCTGGAAGGGGAATTTAATGGTTCTTTCACCCTTTCCTGATGTAGACAAGCTCGACTCTGCTGCCAGTGTGGGCCACCTTCCAACTGCAGTGTCACCATAAGGTTCTGGCTAGCCCTAGGCCTCAGGTAAGCAATTACTCAGCCCTCTCGAGAGAAAACACCAAAGCCAACCTTTGGCTCATCTTTCACCAATTAATATTTTTAGTTTGACTATAACTGCTAATCCTGGTCAGACTGTACCAAACAACCATAGCTTTTAAAAGTCAAGACGTTGGGTGACATCCAATTAGATAACTGATAGCACCAACCACCTCCTGGATATTTCTACCCAGATGTCAGACTGTCCCCTCACCTTGTATGGGATAAAGGGAATGCACTGGCTTTTCCCGAAAGTCACATTCCCCTTCAGACTTCTCTGTCTCCATCAGTAAGGTTACCACCAAATTTTCAGCTAAACTCAAAATCTTTTTCTTCCCTACTCTGTTAATTACCAAATTCTCCCCTTCTTTCCCACATTGTTAGTTACTGAAACTTTCCTTCCTCTGAACCACTGAATGTTTATGCCCTCTGTTAATGCACTTACCATGCAGTATAATCACTGAACTTTTTTTCTTTGAGATGGGGTCTTGCTTTGTCATCCACACTGGAGTGCAGTGGCATAACCTTGGCTCCCTGCAGCCTCGACCTTCCTGGCTCATGCAATCCCCCCACCTCTGCCTCCCGAGTAGCTGGGACTACAGGTGTGCGCCATCACGGCCAGCTAATTTTTAAAATTTTTTGTAGAGACGAGGTCTTGCCATGTTGCCTAGGCTGGTTTTGAACTCCTGGCCTCAAGTGATCCTCTACTTTGGCCTCCCCAAGTGCTCGGATTACAGGCATGAGCCACTGGACCTAGCCTGAACTTGAACTCTTCTCCTTGGTTAAACATTCCACTGTTACCTGAACAGGCCATGACTAACACCACCTGCCTCTATGCCTCTTTCTCCAGCCCTGCAAGTCTGGAATTCTTGGCTTTCTACTCTTTATTTGCCCAAGCCCCATCTCTTTCCCTCGGCTTTACCTGACTCCAAGCCATTGAGGCTGAGCCCTACCCCACCCCTAAATTCTCTCAGCTGTATCTGCCTACAGCACTCAGCTCACACTATCACCTCACATTGCCATTCATCACTCTGTGG
Task1_train_24745
Assess the clinical impact of this variant on gene EFTUD2 (elongation factor Tu GTP binding domain containing 2), found on Chromosome 17. State whether it’s pathogenic or benign, and the disease if applicable.
Pathogenic; Mandibulofacial dysostosis-microcephaly syndrome
TGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGAGATTACAGGCGTGAGCCACCGTGCCCGGCCTCTTTTTTTTTTTTTTTTTTTTTTAAGAGACAGGATCTCACTCTGTCACCCACATTGGAGTACAACAGCACAATCATAGCTCACTATAACCCTGAACTCCTTGGCTCAAGTGATCCTCTTGCCTCTGCCTCCCGAGTAGCTAAGACTACAAACACATGCCAGCACGCCAAGCTAATTTCAAAATTATTTTTTGTAGACACAGAGTCTAGCTATGTTGCCCAGGCTGGCCTTGAACTCCTAGCCCCAAGGGATCCTCCTGCCTTGACCTCTCAAAGTGCTGGGATTACAGGCATAAGCTATCACGCTTGGCCTTCTTATTAAAATATATTTGTCATTTCATCCTTTGGACTCATGATGTCACACTGGGCTCTAGTCATTCTCAGTCCTTGCAGAGATGGGGTGAAGATATTCCTTTTGAAAAGTAGTGCTACACACTGGGAAGGCTCCTGAAGGTATCTGTCTCTAGCCACACAGGTTCCATCCCCAATCCTTAAATGGAGAGGCATTCTTTCAGTTGGAGAGGCATTCTTTCAGTAGGACGGCCTCCTCACAGGCCCATTTGAGGGGCTGCAGGAAGTCATCTAGCACATCTTTCAGCCTGTAGTAAGACTGTCTTTAAGATATATTTAACCTCTGTTTCAAAGGCCCTTTGATATTATATTCTAAGGTATCATAACCATCACTCATATGTATCAATGCAAGCCCTAAATCCATCTTGTTGAGAAGCAGGTATATCCACAGAAACACAGCAAACAGTTCTTAATTTATTTAGACTGTGTTAATTATAAGATAATAGCAGCTAACATTATTCAGCACATCAGCTGCTACATTGCAAGCACTGTGCTGTGTTCCATCAAATATCTATTTAATTTCTTATAACATCCCTTGTAAGTTATGTTAACTTATACTATAAATGCCTAATAATATTTGCTACTATTGCTGTTAGGCAAATATTATTCCTTTTTTACTGAAGCAGAAACTGAACTTAAGTAATCTGCCCAACTTTACATGGTTGGTATGTGGTGAAGAGGAGGCTGATTCTAGAGCCCAGGCTGGGTGCAGCGGCTCAAATCTGTAATGCTAGCACTTTGGAAGGCCAAGGTGGAAGAATTGCTTGAGGCCAGTTTAAGACCAGCCTGGGCAACATAGCAAGACTCCATCTCTACAAAAAAAATATAAATAAATAAAAAATAAAAATTAAAATTAAAAAAAATTGGCCGGGGGTGGTGGTTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGTGGGCGGATCACGAGCTCAGAAGGTCAAGACCAACCTGGCTAACACAGTGAAACCCTGTCTCTACTAAAAATACAAAAAATTAGCCGGGCGTGGTGACGGGTGCCTGTAGTCCCGGCTACTTGAGAGGCTGAGGCAGGAGAATGGCATGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGATCATGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAAAAAAATAAATTAATTAATTTAAAAAATATATAGCCAGGTATGGTGGCACATGCCTGTGGTCCCAGCTATCAGGAGACTGAGGTGGGAGGATTGCTTGAGCCCAGAAGTTCGAGGCTGCAGTGAGCTGTGATTGTGACACTGCACTCTAGCTTGGGTAACAGAGATCCTATCTCTAAAAAGAGAAGAAATTAATACAGCCCAAGTACTGATCATAATAGTAAAATGAAGATGTGTTAAAGTATGAAGTCAACCCCTGCAGAGTCCCAGGATGTGCCTCTAGTTTTGCCCAACAAACTCATCAACACACGCTTAGAAATAAATCACAGTTGTTCCCAGAGGTATTCAGGGTTAAAACCCAGAGCCTCCGAGGACAGGAAATCCACTCCCAGGGGTTTTCTACCTTATTAATCCATTGACCTCATCCACAATGTGGCGCAGCTTGTAATAAGCATCAGTTGGAGGCAGCTTCAGCTCCAGGATCAGCCGGTCAATCTTGTTGATGCACACAGTGACTGCCAGCCTCTCCTGCACCGCATGCTTGATCAGCCGCTCTGTGTTCAGCATCACCTGAGAAAAACAAGGCTCAGAAGGTGGTAAGAAGAACAAGGAGGGCAGAAAGTTCAAAGCAGAACCAAAGAAGGCACTATTTCAAACCATGAAGCCTGGGGAGAAAAAAAGACCTCGGGAAATATTACTGGGTGGAAGCAGAGAGCATCCTGCCCGAAGATAGACACAGGAACTTTAAGAGGGCACCTTGCAGGATTGAGAAATGAATAAACCCATGAACAATGATGTTGGGAGCCAGGTTTCTCAGTGCTAAAGAAGGAACTAAGAAGGCTGGGAAGAGCCAGTGGTGCTGAAATGGAATTGGGGGTATTAGGATTAATGCATGATTTTTAATATATGTGTGTAGAAATAGTTATAGATATGTATGAGTGTATATAACCTAGCTGTGCTCAGTGAGAGGGCCTAGAAGCAATGTACCCCAGTAGCAATGAGCACATCCAAACCTTTGTTTCTAAATACTAATCCCCACTGGCCGGGCACAGTGGCTCATGCCTGTAATTCCAGCACTTTGGGAGGCTGAGGTGGGCGAATCACGAGGTCAGGAGATCGAGACCATCCTGGCTAACACGGTGAAACCCTGTCTCGACTAAAAATACAAAAAGATGAGCTGGGCGTGGTGGCAGGCACCTGTAGTCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCAGAGCTTGCAGTGAGCCAAGATCGCACCACTGCACTCCAGCCTGCTGGGCGACAGAGTGAGACTCCGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAACTACTCCCCACTATGAGCCAGAGCTGCTAGGCTAGGTGCAGTCACTCACACCTGTAATCCCAGCATTTTGGGGAGGCCAAGGCAGGAGGATTGCTTGAAGCCAGAAGTTCAAGACCATCCCCGGCAACAGAGCGAGACCCCATCTCTCAAAAAAATATTTAAAAATAAGCTGGGCATGTTGGCACATACCTGTAGTCCCAGCTATTTGGGAGGCTGAAGTGAGTGAATCACTTGAGCCCAGGAGCTCGAGGCTGCTGTGAGGTATAATTGTACCATTGCACTCCAGCCTGGGCCAGAGGGCAAGATGCCATCTCTTTGAAGGAAAAAAAAAAAGCCAGAGCTCCTTGAAGAAATGGCTGAGTCCAGGATTGGGACAAGGAAAGATAACGTCTAGAACATCTTTTTGTGCTTGAAAGTAAGGAAGTGCTCAAAAAACGATGAGGCGTGAAAAAGATGATGGAATCAGCCTGAAGGAGCTCTCAGTAGCCAAATCTGGGACAAGAGCACTAGAGCACCGGAATCCATAAGGACAGTAACAGATTATAACTCACTGAATAAAATGCAAACCCAAATATCCACAGTGATAATAAGCAAATGGGGGAGAAACAAAAGCACTTCTTTACAACATAATTCCAACCAATAGGCCAGGCGCAGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCAGGTGGACTACTTGAGGTCAGGAGTTCAAGACCAGCCTGACCGACATGGTGAAACCCCATTTCTACAAAAAATTCAAAAATTAGCCAGGTGTGGTGGCAGGCGCCTGTAGTCCCAGCTGCCTGGGAGGCTGAGGCAGGAGAATCACTTGAACCTGGGAGGCAGAGGTTGCAGTGAGCCAAGATTGCGCCACTGCACTCCAGCCTGGGCGGAAGAGCAAGACTCCATCTCAAAAAAACAAAACAACAACAACAACAACAACAACAAACAACAATGGCTGGAAGCGGTGGCTCACGCCTGTAATCTCCACACTTTGGGAGGCCTAGGTGGGCAGATCACTTGAGGTCAGGAGTTCGAGACCAGCCTGGCCAACATGGTGAATGAAACCCTGTCTCTACTAAAAATACAAAAATTATCCAGGTGTGGTGGCGTGCACCTGTAATCTCAGCTATTTGGGAGGCTGAGACAGGAGAATTGCTTGAACCCAAAAGG
TGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGAGATTACAGGCGTGAGCCACCGTGCCCGGCCTCTTTTTTTTTTTTTTTTTTTTTTAAGAGACAGGATCTCACTCTGTCACCCACATTGGAGTACAACAGCACAATCATAGCTCACTATAACCCTGAACTCCTTGGCTCAAGTGATCCTCTTGCCTCTGCCTCCCGAGTAGCTAAGACTACAAACACATGCCAGCACGCCAAGCTAATTTCAAAATTATTTTTTGTAGACACAGAGTCTAGCTATGTTGCCCAGGCTGGCCTTGAACTCCTAGCCCCAAGGGATCCTCCTGCCTTGACCTCTCAAAGTGCTGGGATTACAGGCATAAGCTATCACGCTTGGCCTTCTTATTAAAATATATTTGTCATTTCATCCTTTGGACTCATGATGTCACACTGGGCTCTAGTCATTCTCAGTCCTTGCAGAGATGGGGTGAAGATATTCCTTTTGAAAAGTAGTGCTACACACTGGGAAGGCTCCTGAAGGTATCTGTCTCTAGCCACACAGGTTCCATCCCCAATCCTTAAATGGAGAGGCATTCTTTCAGTTGGAGAGGCATTCTTTCAGTAGGACGGCCTCCTCACAGGCCCATTTGAGGGGCTGCAGGAAGTCATCTAGCACATCTTTCAGCCTGTAGTAAGACTGTCTTTAAGATATATTTAACCTCTGTTTCAAAGGCCCTTTGATATTATATTCTAAGGTATCATAACCATCACTCATATGTATCAATGCAAGCCCTAAATCCATCTTGTTGAGAAGCAGGTATATCCACAGAAACACAGCAAACAGTTCTTAATTTATTTAGACTGTGTTAATTATAAGATAATAGCAGCTAACATTATTCAGCACATCAGCTGCTACATTGCAAGCACTGTGCTGTGTTCCATCAAATATCTATTTAATTTCTTATAACATCCCTTGTAAGTTATGTTAACTTATACTATAAATGCCTAATAATATTTGCTACTATTGCTGTTAGGCAAATATTATTCCTTTTTTACTGAAGCAGAAACTGAACTTAAGTAATCTGCCCAACTTTACATGGTTGGTATGTGGTGAAGAGGAGGCTGATTCTAGAGCCCAGGCTGGGTGCAGCGGCTCAAATCTGTAATGCTAGCACTTTGGAAGGCCAAGGTGGAAGAATTGCTTGAGGCCAGTTTAAGACCAGCCTGGGCAACATAGCAAGACTCCATCTCTACAAAAAAAATATAAATAAATAAAAAATAAAAATTAAAATTAAAAAAAATTGGCCGGGGGTGGTGGTTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGTGGGCGGATCACGAGCTCAGAAGGTCAAGACCAACCTGGCTAACACAGTGAAACCCTGTCTCTACTAAAAATACAAAAAATTAGCCGGGCGTGGTGACGGGTGCCTGTAGTCCCGGCTACTTGAGAGGCTGAGGCAGGAGAATGGCATGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGATCATGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAAAAAAATAAATTAATTAATTTAAAAAATATATAGCCAGGTATGGTGGCACATGCCTGTGGTCCCAGCTATCAGGAGACTGAGGTGGGAGGATTGCTTGAGCCCAGAAGTTCGAGGCTGCAGTGAGCTGTGATTGTGACACTGCACTCTAGCTTGGGTAACAGAGATCCTATCTCTAAAAAGAGAAGAAATTAATACAGCCCAAGTACTGATCATAATAGTAAAATGAAGATGTGTTAAAGTATGAAGTCAACCCCTGCAGAGTCCCAGGATGTGCCTCTAGTTTTGCCCAACAAACTCATCAACACACGCTTAGAAATAAATCACAGTTGTTCCCAGAGGTATTCAGGGTTAAAACCCAGAGCCTCCGAGGACAGGAAATCCACTCCCAGGGGTTTTCTACCTTATTAATCCATTGACCTCATCCACAATGTGGCGCAGCTTGTAATAAGCATCAGTTGGAGGCAGCTTCAGCTCCAGGATCAGCCAGTCAATCTTGTTGATGCACACAGTGACTGCCAGCCTCTCCTGCACCGCATGCTTGATCAGCCGCTCTGTGTTCAGCATCACCTGAGAAAAACAAGGCTCAGAAGGTGGTAAGAAGAACAAGGAGGGCAGAAAGTTCAAAGCAGAACCAAAGAAGGCACTATTTCAAACCATGAAGCCTGGGGAGAAAAAAAGACCTCGGGAAATATTACTGGGTGGAAGCAGAGAGCATCCTGCCCGAAGATAGACACAGGAACTTTAAGAGGGCACCTTGCAGGATTGAGAAATGAATAAACCCATGAACAATGATGTTGGGAGCCAGGTTTCTCAGTGCTAAAGAAGGAACTAAGAAGGCTGGGAAGAGCCAGTGGTGCTGAAATGGAATTGGGGGTATTAGGATTAATGCATGATTTTTAATATATGTGTGTAGAAATAGTTATAGATATGTATGAGTGTATATAACCTAGCTGTGCTCAGTGAGAGGGCCTAGAAGCAATGTACCCCAGTAGCAATGAGCACATCCAAACCTTTGTTTCTAAATACTAATCCCCACTGGCCGGGCACAGTGGCTCATGCCTGTAATTCCAGCACTTTGGGAGGCTGAGGTGGGCGAATCACGAGGTCAGGAGATCGAGACCATCCTGGCTAACACGGTGAAACCCTGTCTCGACTAAAAATACAAAAAGATGAGCTGGGCGTGGTGGCAGGCACCTGTAGTCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCAGAGCTTGCAGTGAGCCAAGATCGCACCACTGCACTCCAGCCTGCTGGGCGACAGAGTGAGACTCCGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAACTACTCCCCACTATGAGCCAGAGCTGCTAGGCTAGGTGCAGTCACTCACACCTGTAATCCCAGCATTTTGGGGAGGCCAAGGCAGGAGGATTGCTTGAAGCCAGAAGTTCAAGACCATCCCCGGCAACAGAGCGAGACCCCATCTCTCAAAAAAATATTTAAAAATAAGCTGGGCATGTTGGCACATACCTGTAGTCCCAGCTATTTGGGAGGCTGAAGTGAGTGAATCACTTGAGCCCAGGAGCTCGAGGCTGCTGTGAGGTATAATTGTACCATTGCACTCCAGCCTGGGCCAGAGGGCAAGATGCCATCTCTTTGAAGGAAAAAAAAAAAGCCAGAGCTCCTTGAAGAAATGGCTGAGTCCAGGATTGGGACAAGGAAAGATAACGTCTAGAACATCTTTTTGTGCTTGAAAGTAAGGAAGTGCTCAAAAAACGATGAGGCGTGAAAAAGATGATGGAATCAGCCTGAAGGAGCTCTCAGTAGCCAAATCTGGGACAAGAGCACTAGAGCACCGGAATCCATAAGGACAGTAACAGATTATAACTCACTGAATAAAATGCAAACCCAAATATCCACAGTGATAATAAGCAAATGGGGGAGAAACAAAAGCACTTCTTTACAACATAATTCCAACCAATAGGCCAGGCGCAGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCAGGTGGACTACTTGAGGTCAGGAGTTCAAGACCAGCCTGACCGACATGGTGAAACCCCATTTCTACAAAAAATTCAAAAATTAGCCAGGTGTGGTGGCAGGCGCCTGTAGTCCCAGCTGCCTGGGAGGCTGAGGCAGGAGAATCACTTGAACCTGGGAGGCAGAGGTTGCAGTGAGCCAAGATTGCGCCACTGCACTCCAGCCTGGGCGGAAGAGCAAGACTCCATCTCAAAAAAACAAAACAACAACAACAACAACAACAACAAACAACAATGGCTGGAAGCGGTGGCTCACGCCTGTAATCTCCACACTTTGGGAGGCCTAGGTGGGCAGATCACTTGAGGTCAGGAGTTCGAGACCAGCCTGGCCAACATGGTGAATGAAACCCTGTCTCTACTAAAAATACAAAAATTATCCAGGTGTGGTGGCGTGCACCTGTAATCTCAGCTATTTGGGAGGCTGAGACAGGAGAATTGCTTGAACCCAAAAGG
Task1_train_24746
Consider this mutation in EFTUD2 (elongation factor Tu GTP binding domain containing 2) on Chromosome 17. Is this a benign change or a disease-causing variant?
Pathogenic; Mandibulofacial dysostosis-microcephaly syndrome
CTTGAGGTCAGGAGTTCAAGACCAGCCTGACCGACATGGTGAAACCCCATTTCTACAAAAAATTCAAAAATTAGCCAGGTGTGGTGGCAGGCGCCTGTAGTCCCAGCTGCCTGGGAGGCTGAGGCAGGAGAATCACTTGAACCTGGGAGGCAGAGGTTGCAGTGAGCCAAGATTGCGCCACTGCACTCCAGCCTGGGCGGAAGAGCAAGACTCCATCTCAAAAAAACAAAACAACAACAACAACAACAACAACAAACAACAATGGCTGGAAGCGGTGGCTCACGCCTGTAATCTCCACACTTTGGGAGGCCTAGGTGGGCAGATCACTTGAGGTCAGGAGTTCGAGACCAGCCTGGCCAACATGGTGAATGAAACCCTGTCTCTACTAAAAATACAAAAATTATCCAGGTGTGGTGGCGTGCACCTGTAATCTCAGCTATTTGGGAGGCTGAGACAGGAGAATTGCTTGAACCCAAAAGGCAGAGGTTGCAGTAAACTGAGATCGCACCACTTCACTCCAGCCTGGGCAACAGAGCAAGACTCCATCTCAAAACCAAAACAAAACAGAAGGAATAAGAAGAGTTAGAAGACTCACTATTTGCAACTATTGTAGGAACAAGCCAAGAATCATCAATAGATGACAAAACTAGTAGATAAAGTTTGATAAGGAGAAGAATAACCAGATTCTAATAACCAGAGCTTAATCACGAGGAAGTATTAGACAAACCCAAATTGAAAGACATTCTACAAAATAAGTGCCCTGTACTCTTCAAAAGTGTCAATGTCATAAAAGACCAAGAGAGGCTAAAGAACAGCTTCAATTCAGAGAGACTTGAAAATCATGAAAACTAAATGTTATGCATCACTCTGGATTAGGGGAAAAAATTCTATAACGGAAATTGTTGGTATGATTAATAAAACTGAATAAGGTCTGCAAAAAAAGATCTGTACAACAGGACTGTATCAATGTCAAATTTTCTGATTTTGGCAACTGTACTGTGGTTACATAGGTGAATGTCCTTATTCTTAGAAAATACATTCTGAAATATTTTACTTTCAAACAGTTCAAGGGGAAAATGTACACACCTGTCTCTCTGTGTGTGTCTGAACGTGTACAGAGAGAGAATTACGAAGTAAATGAGGGTGGGTTCTTTGAACAATTCTTGAAGCTTTTCAGTTTGCTGCTATTCCAAAATGAAAAGTCAGTTTAAAAAAAGACAATTCTGGCTCCCTCTGCTGGCTGTCTCACCAATGATAACACGAATAAGGTTAGCCAAAGTGTTCCATCTCTCAATTGAGGAATACAGAAGACACCCTGGTATTTTAACTCCAATCTCTTGGAAAAACACAACTAATATTAAAAATCCACTTACAAGAACATACACTCCTCCCTTCCTTTTATTTACATTTGTCATTTTATCTTTGTGTTTTCTGAATAGCAATGAGTCTTATCATTTTGAGCTTCACTGAGCAGGAAGCAAGGGCACCCACATTGATAATTTTTTTCTTCGTTTTTTGAGAGAATGTCTCACTCTAGCACCCAGGCTGGAGTGAAGTGGCGCAATCTCGGCTCACTGCAACCTCCAACTCCCAGGCTCAAGTGATTCTCCTGTTTCAGCCTAATGAGTAGCTGGGATTACAGGCATGGGTCACCACACCTGGCTAATTTTTGTATTTTTGGTAGAGACGGGGTTTCGCCACGTTGGCCAGGCTGGTCTCGAACTCCTGACCTCAGGTGATCCACCCACCTCAGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCAACCACACCCGGTAAGAATTAATTTTGAAACATTTGCTGCTTTAATTTTAGAGCAAATTTGAGCCTTAATCCCAGAGAGTTTCAAGTTCTCTGGCTCCCAGCTCACTCAGTGCTCTGGGTATTGTTGCGGGGTGGGGGCAAACATAACAGGTGGATGAGATTCTGGGAGCTGAGTCTGACTCACCCCCTCAGCAGCATCAATGAAAAGGACCACTCCATCTGAGATGCGCAAGCCAGCTGTGACCTCATCAGAGAAATTCACATGTCCTGAAAAGCAAATACTAAGTAAGTCATCACTTGGTGCAGGATAAAGCACAATTAACTGGTAGGGTGAACTGAGGGGGCACTTCAAAGCCCGTGAACCTCCGAATATCCCCTTTCCTCCTCGCCATAACCCCCCACAGGGTAAAAATATCCCCCATTAGTGTCATATCCTTGCATTAAGCTTTCCTACGGGAGGCTCCCTACATAAAAAGAGGGACTCCTGGGACTCATGCCCAGGAGAGCATGAGTCCACACACACAGACCAGCTTAGCCTAATCAGCAGTAAGTAGAGTTCTGTGGGATTCAAGACAATCTGGAGGCAGGAGAAAGGGCAAAGCAGGGCCTGGAGCACAGTGTGCTGCTCGAGGAAGGCAGTTCCTGGCAAGGTGCTATGGGGGCAGGGGCTGAGAGGTATCAGGACACTGGGCATCAGATGGTGCCAAGAAAGCAAATCAGCCAAAACCTAAAACCTTCCAGTTTTTAAAAACTCTGCCCCAGTTGGTCCTTTCCATAGGAGGAAGAGTCAGCCAAGGTGCGCTGCTCCCAAGGTCATCAGGATGTTCACCAGTCTCCTTCAAAAGACTGAGAGTACTCAAGGCCAGGGACTGGCTCTGACTCACCTTTAGCTCCCCAGCAGATAGCATGGGGCCTGACAGGCTGAAATGAATAAATGAATACAATTCCCTAACATTTTTAAATATTCGAAAGAGTAAAGACATGAATAGAAGGCCTGGAGTATGATGCTTGCTAAATTAACAAGTCAGAAACAAAGGAGAGAGTCAAAATGGAAAATGGTTTCAATGAAGGTGAGGGAATGTAAAAACAAAGATGCACTGCTCCGTTCTGCTCCGAAAAGTGAGAGGACACACGCAAAACCAAGACAAGGTTCTAATAATCAAAAGCCAAAGGATGTCCTACCTGGAGTGTCCATGATATTGAAGAGATAAGATTTTCCTTTGGTGTCTGGCAAGACCACTGTCACAGGAGTGCTTTTGATGCCTACACCTCTCTGAAAGGAACAAAGAGTGGTCAAGACCTCTTCCTATGCAAGAGGGGTTCATTTTGTTTTTGGGGCTCCCCAGTTGCTAGTAAATTACACTGATGCCTCTCCTTATAGTGGGTGATTTTTATCTAGGCCTCTAGCCAGCATGACCTTGAAGATAAAATATCTTGGTGTTAGACACCATTTTTGGGGGACTTGTTTCAAATGTGAAAAGATGAAAATGAATTACTGCAAACAAAACAGTATTAAGCCTTATCAGAGAATCCAGGGTCCTAGAATCTCATCCTCTTTATACATTAGAAACAAAAACAATAGCTGAGCACCTTGAAAGTAAAAAGAAACAATCTGGGGTATTTTAGTTTTTTTTTAAAAAAGAAATATAAAAGCTATGACAGAAATAAACATTTTTTTTAAAACTCCAAACAAATACATAAATACATTATAAAATAATAACAGCTAACATTGATTGCCTATCTATCTTTACTAATTCCAAGTGCCTTTAGTTAACCATACTTATTATACTTAAAACTTCCATTAGGAAAAAGAGACAGAAATAAGAGGAGGGAAACAGAAGGGGTCAGAGATTAGAGAGAAAGATCCGGAAGGAAAGACAAAAAGAGAAACACAAAGATATAGGAACCCATTTTCAAAGAGAAGCTACTCCTAGAAAGAGGTCATCATATGGATGGACTCATCCTGCGGATTTTTAAAGGATGATGTCATTTTAAAAAAATCATGTTGAGCTTCTGCGTAACTTATAGCACAAATGCAGACATCGCCTCTTAGTACTTCTCCTATATTAGGCCAAATTTAATCTAGTCAAGAACAGGAGGGTTCCCCTCCTAACCTACAGCTTGCCTACCCAGTTCTTTTTCAAGTTATAACCCTGGAGTAACTGGGGGAAGAAGGAGATGGGATGTGAGAAGTGGAGAGAGAGGAGTAGGATATGAACTAAAATGCTATCATAAAGGCTCCTCTACATTCCCTACAAAACTATTACTGGTGGGTCTGGTGTAGGTGACAATCAGATTCCCCAAGGCATGC
CTTGAGGTCAGGAGTTCAAGACCAGCCTGACCGACATGGTGAAACCCCATTTCTACAAAAAATTCAAAAATTAGCCAGGTGTGGTGGCAGGCGCCTGTAGTCCCAGCTGCCTGGGAGGCTGAGGCAGGAGAATCACTTGAACCTGGGAGGCAGAGGTTGCAGTGAGCCAAGATTGCGCCACTGCACTCCAGCCTGGGCGGAAGAGCAAGACTCCATCTCAAAAAAACAAAACAACAACAACAACAACAACAACAAACAACAATGGCTGGAAGCGGTGGCTCACGCCTGTAATCTCCACACTTTGGGAGGCCTAGGTGGGCAGATCACTTGAGGTCAGGAGTTCGAGACCAGCCTGGCCAACATGGTGAATGAAACCCTGTCTCTACTAAAAATACAAAAATTATCCAGGTGTGGTGGCGTGCACCTGTAATCTCAGCTATTTGGGAGGCTGAGACAGGAGAATTGCTTGAACCCAAAAGGCAGAGGTTGCAGTAAACTGAGATCGCACCACTTCACTCCAGCCTGGGCAACAGAGCAAGACTCCATCTCAAAACCAAAACAAAACAGAAGGAATAAGAAGAGTTAGAAGACTCACTATTTGCAACTATTGTAGGAACAAGCCAAGAATCATCAATAGATGACAAAACTAGTAGATAAAGTTTGATAAGGAGAAGAATAACCAGATTCTAATAACCAGAGCTTAATCACGAGGAAGTATTAGACAAACCCAAATTGAAAGACATTCTACAAAATAAGTGCCCTGTACTCTTCAAAAGTGTCAATGTCATAAAAGACCAAGAGAGGCTAAAGAACAGCTTCAATTCAGAGAGACTTGAAAATCATGAAAACTAAATGTTATGCATCACTCTGGATTAGGGGAAAAAATTCTATAACGGAAATTGTTGGTATGATTAATAAAACTGAATAAGGTCTGCAAAAAAAGATCTGTACAACAGGACTGTATCAATGTCAAATTTTCTGATTTTGGCAACTGTACTGTGGTTACATAGGTGAATGTCCTTATTCTTAGAAAATACATTCTGAAATATTTTACTTTCAAACAGTTCAAGGGGAAAATGTACACACCTGTCTCTCTGTGTGTGTCTGAACGTGTACAGAGAGAGAATTACGAAGTAAATGAGGGTGGGTTCTTTGAACAATTCTTGAAGCTTTTCAGTTTGCTGCTATTCCAAAATGAAAAGTCAGTTTAAAAAAAGACAATTCTGGCTCCCTCTGCTGGCTGTCTCACCAATGATAACACGAATAAGGTTAGCCAAAGTGTTCCATCTCTCAATTGAGGAATACAGAAGACACCCTGGTATTTTAACTCCAATCTCTTGGAAAAACACAACTAATATTAAAAATCCACTTACAAGAACATACACTCCTCCCTTCCTTTTATTTACATTTGTCATTTTATCTTTGTGTTTTCTGAATAGCAATGAGTCTTATCATTTTGAGCTTCACTGAGCAGGAAGCAAGGGCACCCACATTGATAATTTTTTTCTTCGTTTTTTGAGAGAATGTCTCACTCTAGCACCCAGGCTGGAGTGAAGTGGCGCAATCTCGGCTCACTGCAACCTCCAACTCCCAGGCTCAAGTGATTCTCCTGTTTCAGCCTAATGAGTAGCTGGGATTACAGGCATGGGTCACCACACCTGGCTAATTTTTGTATTTTTGGTAGAGACGGGGTTTCGCCACGTTGGCCAGGCTGGTCTCGAACTCCTGACCTCAGGTGATCCACCCACCTCAGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCAACCACACCCGGTAAGAATTAATTTTGAAACATTTGCTGCTTTAATTTTAGAGCAAATTTGAGCCTTAATCCCAGAGAGTTTCAAGTTCTCTGGCTCCCAGCTCACTCAGTGCTCTGGGTATTGTTGCGGGGTGGGGGCAAACATAACAGGTGGATGAGATTCTGGGAGCTGAGTCTGACTCACCCCCTCAGCAGCATCAATGAAAAGGACCACTCCATCTGAGATGCGCAAGCCAGCTGTGACCTCATCAGAGAAATTCACACGTCCTGAAAAGCAAATACTAAGTAAGTCATCACTTGGTGCAGGATAAAGCACAATTAACTGGTAGGGTGAACTGAGGGGGCACTTCAAAGCCCGTGAACCTCCGAATATCCCCTTTCCTCCTCGCCATAACCCCCCACAGGGTAAAAATATCCCCCATTAGTGTCATATCCTTGCATTAAGCTTTCCTACGGGAGGCTCCCTACATAAAAAGAGGGACTCCTGGGACTCATGCCCAGGAGAGCATGAGTCCACACACACAGACCAGCTTAGCCTAATCAGCAGTAAGTAGAGTTCTGTGGGATTCAAGACAATCTGGAGGCAGGAGAAAGGGCAAAGCAGGGCCTGGAGCACAGTGTGCTGCTCGAGGAAGGCAGTTCCTGGCAAGGTGCTATGGGGGCAGGGGCTGAGAGGTATCAGGACACTGGGCATCAGATGGTGCCAAGAAAGCAAATCAGCCAAAACCTAAAACCTTCCAGTTTTTAAAAACTCTGCCCCAGTTGGTCCTTTCCATAGGAGGAAGAGTCAGCCAAGGTGCGCTGCTCCCAAGGTCATCAGGATGTTCACCAGTCTCCTTCAAAAGACTGAGAGTACTCAAGGCCAGGGACTGGCTCTGACTCACCTTTAGCTCCCCAGCAGATAGCATGGGGCCTGACAGGCTGAAATGAATAAATGAATACAATTCCCTAACATTTTTAAATATTCGAAAGAGTAAAGACATGAATAGAAGGCCTGGAGTATGATGCTTGCTAAATTAACAAGTCAGAAACAAAGGAGAGAGTCAAAATGGAAAATGGTTTCAATGAAGGTGAGGGAATGTAAAAACAAAGATGCACTGCTCCGTTCTGCTCCGAAAAGTGAGAGGACACACGCAAAACCAAGACAAGGTTCTAATAATCAAAAGCCAAAGGATGTCCTACCTGGAGTGTCCATGATATTGAAGAGATAAGATTTTCCTTTGGTGTCTGGCAAGACCACTGTCACAGGAGTGCTTTTGATGCCTACACCTCTCTGAAAGGAACAAAGAGTGGTCAAGACCTCTTCCTATGCAAGAGGGGTTCATTTTGTTTTTGGGGCTCCCCAGTTGCTAGTAAATTACACTGATGCCTCTCCTTATAGTGGGTGATTTTTATCTAGGCCTCTAGCCAGCATGACCTTGAAGATAAAATATCTTGGTGTTAGACACCATTTTTGGGGGACTTGTTTCAAATGTGAAAAGATGAAAATGAATTACTGCAAACAAAACAGTATTAAGCCTTATCAGAGAATCCAGGGTCCTAGAATCTCATCCTCTTTATACATTAGAAACAAAAACAATAGCTGAGCACCTTGAAAGTAAAAAGAAACAATCTGGGGTATTTTAGTTTTTTTTTAAAAAAGAAATATAAAAGCTATGACAGAAATAAACATTTTTTTTAAAACTCCAAACAAATACATAAATACATTATAAAATAATAACAGCTAACATTGATTGCCTATCTATCTTTACTAATTCCAAGTGCCTTTAGTTAACCATACTTATTATACTTAAAACTTCCATTAGGAAAAAGAGACAGAAATAAGAGGAGGGAAACAGAAGGGGTCAGAGATTAGAGAGAAAGATCCGGAAGGAAAGACAAAAAGAGAAACACAAAGATATAGGAACCCATTTTCAAAGAGAAGCTACTCCTAGAAAGAGGTCATCATATGGATGGACTCATCCTGCGGATTTTTAAAGGATGATGTCATTTTAAAAAAATCATGTTGAGCTTCTGCGTAACTTATAGCACAAATGCAGACATCGCCTCTTAGTACTTCTCCTATATTAGGCCAAATTTAATCTAGTCAAGAACAGGAGGGTTCCCCTCCTAACCTACAGCTTGCCTACCCAGTTCTTTTTCAAGTTATAACCCTGGAGTAACTGGGGGAAGAAGGAGATGGGATGTGAGAAGTGGAGAGAGAGGAGTAGGATATGAACTAAAATGCTATCATAAAGGCTCCTCTACATTCCCTACAAAACTATTACTGGTGGGTCTGGTGTAGGTGACAATCAGATTCCCCAAGGCATGC
Task1_train_24747
This mutation occurs in EFTUD2 (elongation factor Tu GTP binding domain containing 2) on Chromosome 17. Does this change lead to a known medical condition, or is it benign?
Pathogenic; Mandibulofacial dysostosis-microcephaly syndrome
AGCCCATGTTCTTTTCACTAGGACATCATGAGTTACAGAGGTTAACTGGGGAAGAAGAGTGAATGGAATGAGAACAAAGGAAACCTTTCTATCAACATGGTTTGAATGAGAATGTATTCATGAATTACCTATATAATTAAAGAAAAACACACTGTAAAACCTTTTTTTTTTTTTTTTTTTTTTTTGAGATGGAGTCTCGCTGTGTCACCCAGGCTGGAGAGCAGTGGCTCGATCTCAGCTCACTGCAACGTCTACCTCCCGGGTTCAAGCAATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGCATGTACCACCACACCCAGCTAATTTTTGTATTTTAGTAGAGACGGGGTTTCACCATGTTGGCCAGGCTGGTCTCAAACTCCTGGGCTCAAGCGCCTCAGCCTCCCAAAATGCTGGAATTACAGGCGTAAGCCACCACACCTGACTGTAAACCTTATTTTCAAAAAGAAAAAAAAATGCTGGTTTATAAGACATCAATAAAAAACTTCAAATGTCTTGCCCAAATCAAGATACATCATGTCCACAGCATGCCCCTGACCTGTGGCTCAACCTAGTAATCCTATCAAGAGAAAATTATTTTTATAAAACTCATGCTAGCTTCCTAAGTACTCAACAGTCATTTTTTTTTTTTTTTGTTTGAGACCGAGTCTCACTCTTGTTGCCCAGGCTGGAGTACAGTGGCACAATCTTGGCTCACTGCAACCTCCGCCTCCCGTGTTCAAGTGATTTTCCTGCCTCGGCCTTCCAAGCAGCTGGGACTACAGGCACGCGCCAACAAGCCTGGCTAATATTTGTATTTTTAGTAGAGACGGGGTTTCACCGTATTGGTCAGGTTAGTCTTGAACTCCTGACCGTGTGATCTGACCACCTTGGCCTCCCAAGGTGCTGGGATTACAGGCATGAGCCACCACGCCCGGGCCCTTTCTATTGCTTTTATGCATCTCTGAAAATCTGAGCTTGTGAGGGAGCTCCCAGTGCAGCTGTAGCTGGAAGAGTTGAGTATCTTTTCCAAGTGGGAATTATTCATGACTGTTAAAAGACACTTCAGGGAAATGGAAGAACTAATGATCAACTAGAGCTCAGATTACAAAACCATCTCATCAATGAAACTACATATTCCCTTTTGGAACCTTAGTAGCGAAGCTTTGCTGGAGCAGTATGAGATCCCACTAAGTCATGTTATAAAAAGGACAATCTCAAGAGACGTACCCAGGGTATCACTGGAACACAGAGGATTCAAAATTTCATTGTTTTTTAAAAAAAGGTGGGGGGGGGGGTGGGGGGGCAGGCATGGTGGCTCATGCCTATAATCCCAGCTCTTTGGGAGGCCAAGGCAGGTGGATTGCTTGAAGTCAGGACTTCAAGACCAGCCTGGACAACATAGTGAAACCCTGTCTCTACTAAAAATACAAAAAACATTAGCCGGGCATGGTGGCACACACCTGTAATCCCAGCTACTCAGGAGGCTGAGGCATTGAGAATTGCTTGGACCTGGGAGGCAGAGGCTGCAGTGAGCCAAGATGGTGCCACTGCGCTCCTGCCTGGGCAACAGGGTGAGACTGTCTCAAAAAAAAAAAAAAGAAAAAAGAGGGGGCTGGGCATGGTGGCTCATGCCTGTAATCCTAGCAGTTTGGGAGGCCAAGGCAGGTGGACTGCTCGAGCTCAGGAGTTCAAGACCAGCCTGGGCAATGTTTCATCTCCACGAAAAATAAAAAAAAATTAGCTGGGCATGGTGGTGCATACCTGTAGTCCCAGCTACTTGGGAGGCCAAGGTGGGAGGATCACTTAAGCCCAGGAGGTGGAGGTTGCAGTGAGCTGAGATTGCGCCACTGCACTCCAACCTGGCAAGAGAGTGAGATCTTGTCTTAAATAAAATAAATAAGAGTGAGATAAAAGAGCAATATATTTGTTTTACCTCATCAAGATCTTTGGTCTCTCTACCCAATTCATCATCATCTTCATCAGAATCAAGCTCTGGTCCAATATAATTCCCAAACTCATCATATAAGTCGGTATCCATGATGCTAAAATTCAAGGAGAGAAGAGTTAGATTCTGACAAGGTAATCAAGGCCTTCATGTGGTGGCTCCACCTGTCTAGTCTTAGTCTTATGGTTGGCCATACCCCTTTCACATGCCTCCTCTCCAGTGACATCAACCTACTGAATGCTCCTCCCAAAGCCCAGTACTTTCCCCAAGTCTCTGCCTTACTTGTCTCTATTTATGTAGTCTTCCCTCCACTTTTCTTGTTTTGGGTTTTAAGGAGCAGAGAGTTGAATAGGCAAGAAGGAAGAAAGAAGACAGAAGGAAGAAGCTCCGCCGTACAGAGATGGGGCGTGGGGGGCGCTCCAAAGCCAAAAGAGGAGGTCCCCCTCCCTCCACTTTTTTAATACTAAATTTAATTTTAAAACAACTCAGTATCAAAAAATGGCAAGAACAGTACAAATAACTTACTTTTTCCTAAATTATTTGAAAGTGAGCTGTTGACACAATGGCTCATCACCTCCTAATACTTTAGTGTAAGGGTGGGCAAACTCTGGCCTGTGGCCAAATCTGGCCCCTCCAGCTGTTTTTACATGGCCCTCAAGCTAAGAATGCTTTTTCACATTTGTAAATTGCCAGGGAAAAAGTCAAAAGAAAAATATTTCATGATACATGAAAATTAATTATAAGGAATTCAAATGTCAGTGTCTATTAAAAAAGTTTCATTGGGAGGCCGGGCGCGGTGGCGCATGCCTGTAATACCAGCACTTTGGGAGGCCAAGGCAGGCAGATGACCTGAGGTCAGGAGTTCGAGACCAGCCTGGCCAACATGGCAAAACGCTGTCTCTACTAAAAATACAAAAATTAGCTGGGTACGGTGGCTCACACCTGTAATCCCAGCTACTCAGGAGGCTGATATAGGAGAATCCCTTGAACCCAGGGGGTGGAGGTTGCAGTGAGGCGAGATGGCACCACTGCACTCCAGCCTGGGAGACAGAACAAGACTCCATCTCAAAAAAAAAAAAAAAAAAAAAGTTTCACTGGAAAACAGCCATGCATATTCATTTGCATCATTTACAGTTGCCTTCACACTGTAATAGCAGAGTTGAATAGTTGAGACTGAAACCATATGGCTCACAAAGCCTAAAATATTATCCAGTCCTTAATAGAAAAAGTTTGCCAACCTCTCCCTCACCATGTGTAATTCCTACAAACAAGAACATTCTCCTACATAACCACAATACAACCATCAAAATCAGAAAATTGATATTCACACATTACTACCACCTTCTTTACAGATCCCATTCAAGTTTCACAGATTGTTCCAATAATACCTTACACACCTAAGGATCCAATCCAGGATCATGTTTGCATTTGGTTGTCATGTCTCTAGTCTCTTTGGATCTACAATCTTCAGTCTTTGGATCTACAATCTTCAGTCTTTCCTTCCAAGGACTGTCATGAAATCCTTAAGGATGTCCCTTGATTTGAGGTTGTCTGATGTTACCTTATGATAATATTCAGGTTATGCGTTTTGGGCAGGAATATCATAGAAGTGATGCTGTGTTCTTCTCAATGCATTTCGTATCAGGTGATACATGATTTCAATTTGCCCCATTAGTGGTAACGTTAACTTTGATCACTTCATTAAGGTGATGTTTGCCAGGCCTCTCCATTGTAAAGTTACTCATTTTCCCTTTGTAATTAAGTAGTGTTTTGTGGGTTTTCTCCACTTCAATTACTGAAATTCTATTCAAAGAAACAGTTCAAATGCCACCACCTCCTTCAAGCTTTCCTAGCTCCTCAATTTCTCATTCCTCTATCCTACTAGAGCTTTTTGCACCTTTATCAGTATTTAATTTTGTCTTAAATAGTAGTTAACTGGCTGGGCACAGTGGCTCATGCCTGTAATCCCAGCACTTTGGCAGGCCAAGATGGGCGGATCATGAGGTCAGGAGATAGAGACCATCCTGGCTAACACAGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTAGCCAGGTGTGGTGGCACACACCTGTAGTCCCAGCTACTCAGCAGGCTGAGGCAGGAGAATCACTTG
AGCCCATGTTCTTTTCACTAGGACATCATGAGTTACAGAGGTTAACTGGGGAAGAAGAGTGAATGGAATGAGAACAAAGGAAACCTTTCTATCAACATGGTTTGAATGAGAATGTATTCATGAATTACCTATATAATTAAAGAAAAACACACTGTAAAACCTTTTTTTTTTTTTTTTTTTTTTTTGAGATGGAGTCTCGCTGTGTCACCCAGGCTGGAGAGCAGTGGCTCGATCTCAGCTCACTGCAACGTCTACCTCCCGGGTTCAAGCAATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGCATGTACCACCACACCCAGCTAATTTTTGTATTTTAGTAGAGACGGGGTTTCACCATGTTGGCCAGGCTGGTCTCAAACTCCTGGGCTCAAGCGCCTCAGCCTCCCAAAATGCTGGAATTACAGGCGTAAGCCACCACACCTGACTGTAAACCTTATTTTCAAAAAGAAAAAAAAATGCTGGTTTATAAGACATCAATAAAAAACTTCAAATGTCTTGCCCAAATCAAGATACATCATGTCCACAGCATGCCCCTGACCTGTGGCTCAACCTAGTAATCCTATCAAGAGAAAATTATTTTTATAAAACTCATGCTAGCTTCCTAAGTACTCAACAGTCATTTTTTTTTTTTTTTGTTTGAGACCGAGTCTCACTCTTGTTGCCCAGGCTGGAGTACAGTGGCACAATCTTGGCTCACTGCAACCTCCGCCTCCCGTGTTCAAGTGATTTTCCTGCCTCGGCCTTCCAAGCAGCTGGGACTACAGGCACGCGCCAACAAGCCTGGCTAATATTTGTATTTTTAGTAGAGACGGGGTTTCACCGTATTGGTCAGGTTAGTCTTGAACTCCTGACCGTGTGATCTGACCACCTTGGCCTCCCAAGGTGCTGGGATTACAGGCATGAGCCACCACGCCCGGGCCCTTTCTATTGCTTTTATGCATCTCTGAAAATCTGAGCTTGTGAGGGAGCTCCCAGTGCAGCTGTAGCTGGAAGAGTTGAGTATCTTTTCCAAGTGGGAATTATTCATGACTGTTAAAAGACACTTCAGGGAAATGGAAGAACTAATGATCAACTAGAGCTCAGATTACAAAACCATCTCATCAATGAAACTACATATTCCCTTTTGGAACCTTAGTAGCGAAGCTTTGCTGGAGCAGTATGAGATCCCACTAAGTCATGTTATAAAAAGGACAATCTCAAGAGACGTACCCAGGGTATCACTGGAACACAGAGGATTCAAAATTTCATTGTTTTTTAAAAAAAGGTGGGGGGGGGGGTGGGGGGGCAGGCATGGTGGCTCATGCCTATAATCCCAGCTCTTTGGGAGGCCAAGGCAGGTGGATTGCTTGAAGTCAGGACTTCAAGACCAGCCTGGACAACATAGTGAAACCCTGTCTCTACTAAAAATACAAAAAACATTAGCCGGGCATGGTGGCACACACCTGTAATCCCAGCTACTCAGGAGGCTGAGGCATTGAGAATTGCTTGGACCTGGGAGGCAGAGGCTGCAGTGAGCCAAGATGGTGCCACTGCGCTCCTGCCTGGGCAACAGGGTGAGACTGTCTCAAAAAAAAAAAAAAGAAAAAAGAGGGGGCTGGGCATGGTGGCTCATGCCTGTAATCCTAGCAGTTTGGGAGGCCAAGGCAGGTGGACTGCTCGAGCTCAGGAGTTCAAGACCAGCCTGGGCAATGTTTCATCTCCACGAAAAATAAAAAAAAATTAGCTGGGCATGGTGGTGCATACCTGTAGTCCCAGCTACTTGGGAGGCCAAGGTGGGAGGATCACTTAAGCCCAGGAGGTGGAGGTTGCAGTGAGCTGAGATTGCGCCACTGCACTCCAACCTGGCAAGAGAGTGAGATCTTGTCTTAAATAAAATAAATAAGAGTGAGATAAAAGAGCAATATATTTGTTTTACCTCATCAAGATCTTTGGTCTCTCTACCCAATTCATCATCATCTTCATCAGAATCAAGCTCTGGTCCAATATAATTCCCAAACTCATCATATAAGTCGGTATCAATGATGCTAAAATTCAAGGAGAGAAGAGTTAGATTCTGACAAGGTAATCAAGGCCTTCATGTGGTGGCTCCACCTGTCTAGTCTTAGTCTTATGGTTGGCCATACCCCTTTCACATGCCTCCTCTCCAGTGACATCAACCTACTGAATGCTCCTCCCAAAGCCCAGTACTTTCCCCAAGTCTCTGCCTTACTTGTCTCTATTTATGTAGTCTTCCCTCCACTTTTCTTGTTTTGGGTTTTAAGGAGCAGAGAGTTGAATAGGCAAGAAGGAAGAAAGAAGACAGAAGGAAGAAGCTCCGCCGTACAGAGATGGGGCGTGGGGGGCGCTCCAAAGCCAAAAGAGGAGGTCCCCCTCCCTCCACTTTTTTAATACTAAATTTAATTTTAAAACAACTCAGTATCAAAAAATGGCAAGAACAGTACAAATAACTTACTTTTTCCTAAATTATTTGAAAGTGAGCTGTTGACACAATGGCTCATCACCTCCTAATACTTTAGTGTAAGGGTGGGCAAACTCTGGCCTGTGGCCAAATCTGGCCCCTCCAGCTGTTTTTACATGGCCCTCAAGCTAAGAATGCTTTTTCACATTTGTAAATTGCCAGGGAAAAAGTCAAAAGAAAAATATTTCATGATACATGAAAATTAATTATAAGGAATTCAAATGTCAGTGTCTATTAAAAAAGTTTCATTGGGAGGCCGGGCGCGGTGGCGCATGCCTGTAATACCAGCACTTTGGGAGGCCAAGGCAGGCAGATGACCTGAGGTCAGGAGTTCGAGACCAGCCTGGCCAACATGGCAAAACGCTGTCTCTACTAAAAATACAAAAATTAGCTGGGTACGGTGGCTCACACCTGTAATCCCAGCTACTCAGGAGGCTGATATAGGAGAATCCCTTGAACCCAGGGGGTGGAGGTTGCAGTGAGGCGAGATGGCACCACTGCACTCCAGCCTGGGAGACAGAACAAGACTCCATCTCAAAAAAAAAAAAAAAAAAAAAGTTTCACTGGAAAACAGCCATGCATATTCATTTGCATCATTTACAGTTGCCTTCACACTGTAATAGCAGAGTTGAATAGTTGAGACTGAAACCATATGGCTCACAAAGCCTAAAATATTATCCAGTCCTTAATAGAAAAAGTTTGCCAACCTCTCCCTCACCATGTGTAATTCCTACAAACAAGAACATTCTCCTACATAACCACAATACAACCATCAAAATCAGAAAATTGATATTCACACATTACTACCACCTTCTTTACAGATCCCATTCAAGTTTCACAGATTGTTCCAATAATACCTTACACACCTAAGGATCCAATCCAGGATCATGTTTGCATTTGGTTGTCATGTCTCTAGTCTCTTTGGATCTACAATCTTCAGTCTTTGGATCTACAATCTTCAGTCTTTCCTTCCAAGGACTGTCATGAAATCCTTAAGGATGTCCCTTGATTTGAGGTTGTCTGATGTTACCTTATGATAATATTCAGGTTATGCGTTTTGGGCAGGAATATCATAGAAGTGATGCTGTGTTCTTCTCAATGCATTTCGTATCAGGTGATACATGATTTCAATTTGCCCCATTAGTGGTAACGTTAACTTTGATCACTTCATTAAGGTGATGTTTGCCAGGCCTCTCCATTGTAAAGTTACTCATTTTCCCTTTGTAATTAAGTAGTGTTTTGTGGGTTTTCTCCACTTCAATTACTGAAATTCTATTCAAAGAAACAGTTCAAATGCCACCACCTCCTTCAAGCTTTCCTAGCTCCTCAATTTCTCATTCCTCTATCCTACTAGAGCTTTTTGCACCTTTATCAGTATTTAATTTTGTCTTAAATAGTAGTTAACTGGCTGGGCACAGTGGCTCATGCCTGTAATCCCAGCACTTTGGCAGGCCAAGATGGGCGGATCATGAGGTCAGGAGATAGAGACCATCCTGGCTAACACAGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTAGCCAGGTGTGGTGGCACACACCTGTAGTCCCAGCTACTCAGCAGGCTGAGGCAGGAGAATCACTTG
Task1_train_24748
Gene DNAAF19 (dynein axonemal assembly factor 19) on Chromosome 17 is altered by this variant. Does this mutation result in a disease or is it benign?
Pathogenic; Primary ciliary dyskinesia 17
ATATGCAGAAACTACAGAAGTACAGTGATAGAACTAAAGGCATTGCCCAGGTACCTAGGGACCTCTGTTCCAGCCCTGGGCTGGACAGAGGGATTTGGGGATGGGGTCATTGAGCTCCTTCCTTTGCCCCTTCTACTTGATTTCCTGCTCAGTCATTGCATCTGGTTTGGGTGAAAGTCTCCTTCCTCATTAAAGACATTCAATGAAGAATGAAACTTTATCCCCGAGCTCAAGGGTAACTAACAAGAGTTCTGCCTTTGTGTGAGGTCCCCTGTCGAAACGACTTGCTGTAGAACAATCCTATGGGGGAAGAGTGAAGAAACTGAATTCTGAGATCCCAATGCCTCCTCGACTGAAGCACCAAAATTAAAAATATTTTTAGAGGCAAAGAGCAAAATTAAGACAGAACTCCAAATTGAAAGTCAGGACTCTGTATTCTATTTTCAGGGACAAGTCTTGTGTAAGTCCTCACTGTGAAATTCAACTTGTCTTTGTAAAATAGAAAACCAGATTTTTGTAACACCTCCCAATCTGAGTGACATGATGTCCAGAGTGCTTTGGGGTCATTTTGTGTTCTGGTGAATAATTCAGAGGTACCCTCTTTCCCCTGATATTGACTGTCCACTGACATGTATTCCCTTTGCCTTCCCAGGCACAGGCCATGGAAAGGAATGACATCATCAACTTCAAGGCTTTGGAGAAAGAGCTGCAGGCTGCACTCACTGCTGATGAGAAGTACAAACGGGAGAATGCTGCCAAGTTACGGGCAGTGGAACAGAGGGTGGCTTCCTATGAGGAGTTCAGGTTGGCTCACTGCCATTTTTCTCAGGCCCTCCTGTTATGGTGGATTATAGTAGTTAACTCTGAAATCAAACCATTCTGGGCTTCAGTCCTGGCCCCACCGTCTACTGTTTGATCTTATGCAATTTCCTTAACTTCTCTGAGTCTCAATTATTTATCTGTAGAACAGTAACTGTTATAATTAAATGAGTTCTTGCACATAAGACTGAGCAAGTGTCTGACACATGTGAGGTGCTTGAAAGCAGTCAGCTATCGCTGTTGTTATTATTATGGTCATATTGGTCCGTAACAGGTTTATCCTATACCATGCAAAGTCTAGCTGCCTCACACCCACAGACACAGCATTAAGTCCATTGCCTAATTTCTGTCCTTTGCCTACAGGGGTATTGTCCTTGCATCACATCTGAAGCCACTGGAGCGGAAGGATAAGATGGGAGGAAAGAGAACTGTGCCCTGGAACTGTCACACTATTCAGGGAAGGACCTTCCAGGATGTGGCCACTGAAATCTCCCCGGTAGGTGAGGCCCTGCCCCTTTAGTCCAGCAGGATTCTCTGCCCTAAAGCTTCAATCCTGTTTTTTCATTTTGTTTTGTTTTGTTTTGTTTTTTTAACCACACATACCTCTTCTTTATTTGTCATGTTAAACCAACAGAGATAGGTTTCTGCCTCCAATCCCAGAAAGAAAAACAAACAGCAGATGGCAAAGCTGAGTTGAAGTGGGCAGAATGAGTCAGAAAGTTGGGCTAGGAAGGTCGGCTTCCCTTAGTCCTTTGACTTTCATTCTCAGATCAGAATTGGGATGCTCTGCCTCTGGGTTGTATGGTGTCTAGTGTAATGATCCTGTGGCAGTGTTGAGAGAGAGACCCCAACATTCAGATCCTTGAGTTCCTTTCTCTCTTCCTGAGATTTCCAATCAACCCATCCACCCGACTTACAGTAAACCCTGACTTACTCTTGAAGACCAGAGCTATGTCTCCATTCATGAGTAGGAAAATTCCAGTATAAATGAGAATCTCAAATCATGGCGTGGATTCCTTGGGGCCCTCCCTGTTTCATCCCCAGTTTCCTCATCTGAAAATGAGGCCGCCAAGGACCACAGCTTTCCCAGTGCTCAGACAGTAGTGAGATGAAGACAGTAAGATGAAGAGCTACAGGCTCCCCTCCCTGTCACTGTTGCAGAACAGCTGGAAGAGCTCCTGACTCCCTTTCCTTCCTTTGTGGTCCAGGAGAAAGCCCCCCTCCAGCCCGAGACGTCTGCTGACTTCTATCGTGATTGGCGACGACACTTGCCAAGTGGGCCAGAGCGCTACCAGGCTCTACTGCAGCTTGGGGGTCCAAGGCTCGGCTGCCTCTTCCAGACAGATGTGGGATTTGGACTTCTTGGGGAGCTGCTGGTGGCACTGGCTGATCACGTGGGGCCGGCTGACCGGGCAGCGGTGCTGGGGATCCTATGCAGCCTGGCGAGCACTGGGCGCTTCACCCTGAACCTAAGCCTGCTGAGCCGGGCAGAGAGAGAGAGCTGCAAGGGCTTGTTTCAGAAGCTGCAAGCCATGGGCAACCCCAGATCCGTGAAGGAGGGGCTCAGCTGGGAGGAGCAGGGTCTGGAGGAGCAGTCTGGTGGGCTCCAGGAGGAGGAGAGGCTCCTGCAGGAGCTGCTGGAGCTGTACCAGGTTGACTGATGCGGCAAGCTACCCTCAGAGGTCCCAGTGGTCACTGGAGGCAGTTTTTTGGTTGTTGTCTTGGGGGTTCTGCAGGACCATAATAAGAAACCCACACCTGGTTCCCTTCTCAACTTGGAATTTTCAGAGCAAAAACAGGAATCAAGTCTTCCCCACTTCTCCAGTCCCTCAGTGTCTCGCTGTTTTGAACTGTGTGTATCCATGGACAGTCAAGAGCTCAGGAAGTTGAGAGCGGTTTTGTTTCCCACCCTTAGAGTCTGCCAAGCCTCTAGCCCACTGGCCTTGAGAGATGAGTGTGTGCCCAACCAAATGCTGGCTATACCAGTTACAGCCTCCACTCATAAAAGGGAAAAAGCAAAATCTTTATGGTAAACAAACACTGATCTCCACAGCTCTTAACAAGAATGTTTATAGCCCCAAACCAATGAATGGACATGTAATCAACAAATGATCAAATACTACATCATTTGAGGTGTTGAATTTTCCCCTAGAGACTCAGTTCTTGTGCAGGTTGGGCCTGGGAAAGTCCCAAGCCATCAGCTCAGGTCCAGCCAGCCTCCCGGATGGCCAGATATGCAGGAGGGTGGGTTTCCTTCATCCCCCAGGTTGATGAAAGACTTTTCCACCAGGCTGGCAGGGCAGGGCCTGGAGCACTGAGGCAGAGATCTCCCTGCCCGAGCACCTCGGCCCGCCCTTCTCATTCCGGTTTCCTTTGACCCATTCTTGGGTGAGCGCCAGTGTTCTAGAAAGGGGAGTAAAGGCCAGGTTCTAGAATGGCTTTCCCCCCCCACCCTGAGATCAGGTCTGGAATGTTAGAAGGGCATCTTGTACATCCACTGGGAATAAATTGCCTTGCACTTGGCGGCTTCCTCTGCAGATTGTTGCTGCTTTTCCTGGCTGCATAATCCTTTCCTCATCTAGAGGCTTCCGCTTAGCAGAGCTTTCTAGGAGCCCTATGAGCCTTTAATGCCCTGGTTTTGCCCTGCCCCTCTGACCCCTGCCTCCTTCAGGTATGCACCTGGCCCTCACCACTGTGCTCCTGTGGGCATGGGGGCTCCAGGCCTTTGAAATTGTGGAGAAGGAAAACATTTTTCAGAGGACCCCCTGCCCTGCTTTCCTGATGTTTGAAAATGCAGCCTACCTGGCCGACATGAGCTTTGAGCTTCCCTGTCACTGCAAACCCGAAGAGGTGCCAGCTGTAGTCTGGTTCTACCAAAAGCACCTAGGTAGCAGCCACACCAAAGTGCTGACGGACTTTGATGGGCGGGTGCTGACGGAGGCAGCCCAGGTACGTGTGGGCAGCGACATGCTGACCCGCTTCAGCATCCGCATGTTCAGCTTGTTGGTTTTCAGGGCTCAGTCTGAGGACTCAGGCCTGTACTTCTGCGGCACCCGCAAGGGGGACTACTTTTACGCCTACGATGTGGACATCCAGAACAGTGAGGGAATGGTGGCCACTTTCCAGGACAAGGGCCAGGAGCCCTTTGCAGATGAATACTATGGGCACCTCCATGTCTTCACCACCTTCTGGGAATGGACCCCCTGTGACCGCTGCGGAGTGCGTGGGGAGCAGTGGCGCATCGGCCTCTGCTACCTGCAGAGCCCAGACCTCTCCC
ATATGCAGAAACTACAGAAGTACAGTGATAGAACTAAAGGCATTGCCCAGGTACCTAGGGACCTCTGTTCCAGCCCTGGGCTGGACAGAGGGATTTGGGGATGGGGTCATTGAGCTCCTTCCTTTGCCCCTTCTACTTGATTTCCTGCTCAGTCATTGCATCTGGTTTGGGTGAAAGTCTCCTTCCTCATTAAAGACATTCAATGAAGAATGAAACTTTATCCCCGAGCTCAAGGGTAACTAACAAGAGTTCTGCCTTTGTGTGAGGTCCCCTGTCGAAACGACTTGCTGTAGAACAATCCTATGGGGGAAGAGTGAAGAAACTGAATTCTGAGATCCCAATGCCTCCTCGACTGAAGCACCAAAATTAAAAATATTTTTAGAGGCAAAGAGCAAAATTAAGACAGAACTCCAAATTGAAAGTCAGGACTCTGTATTCTATTTTCAGGGACAAGTCTTGTGTAAGTCCTCACTGTGAAATTCAACTTGTCTTTGTAAAATAGAAAACCAGATTTTTGTAACACCTCCCAATCTGAGTGACATGATGTCCAGAGTGCTTTGGGGTCATTTTGTGTTCTGGTGAATAATTCAGAGGTACCCTCTTTCCCCTGATATTGACTGTCCACTGACATGTATTCCCTTTGCCTTCCCAGGCACAGGCCATGGAAAGGAATGACATCATCAACTTCAAGGCTTTGGAGAAAGAGCTGCAGGCTGCACTCACTGCTGATGAGAAGTACAAACGGGAGAATGCTGCCAAGTTACGGGCAGTGGAACAGAGGGTGGCTTCCTATGAGGAGTTCAGGTTGGCTCACTGCCATTTTTCTCAGGCCCTCCTGTTATGGTGGATTATAGTAGTTAACTCTGAAATCAAACCATTCTGGGCTTCAGTCCTGGCCCCACCGTCTACTGTTTGATCTTATGCAATTTCCTTAACTTCTCTGAGTCTCAATTATTTATCTGTAGAACAGTAACTGTTATAATTAAATGAGTTCTTGCACATAAGACTGAGCAAGTGTCTGACACATGTGAGGTGCTTGAAAGCAGTCAGCTATCGCTGTTGTTATTATTATGGTCATATTGGTCCGTAACAGGTTTATCCTATACCATGCAAAGTCTAGCTGCCTCACACCCACAGACACAGCATTAAGTCCATTGCCTAATTTCTGTCCTTTGCCTACAGGGGTATTGTCCTTGCATCACATCTGAAGCCACTGGAGCGGAAGGATAAGATGGGAGGAAAGAGAACTGTGCCCTGGAACTGTCACACTATTCAGGGAAGGACCTTCCAGGATGTGGCCACTGAAATCTCCCCGGTAGGTGAGGCCCTGCCCCTTTAGTCCAGCAGGATTCTCTGCCCTAAAGCTTCAATCCTGTTTTTTCATTTTGTTTTGTTTTGTTTTGTTTTTTTAACCACACATACCTCTTCTTTATTTGTCATGTTAAACCAACAGAGATAGGTTTCTGCCTCCAATCCCAGAAAGAAAAACAAACAGCAGATGGCAAAGCTGAGTTGAAGTGGGCAGAATGAGTCAGAAAGTTGGGCTAGGAAGGTCGGCTTCCCTTAGTCCTTTGACTTTCATTCTCAGATCAGAATTGGGATGCTCTGCCTCTGGGTTGTATGGTGTCTAGTGTAATGATCCTGTGGCAGTGTTGAGAGAGAGACCCCAACATTCAGATCCTTGAGTTCCTTTCTCTCTTCCTGAGATTTCCAATCAACCCATCCACCCGACTTACAGTAAACCCTGACTTACTCTTGAAGACCAGAGCTATGTCTCCATTCATGAGTAGGAAAATTCCAGTATAAATGAGAATCTCAAATCATGGCGTGGATTCCTTGGGGCCCTCCCTGTTTCATCCCCAGTTTCCTCATCTGAAAATGAGGCCGCCAAGGACCACAGCTTTCCCAGTGCTCAGACAGTAGTGAGATGAAGACAGTAAGATGAAGAGCTACAGGCTCCCCTCCCTGTCACTGTTGCAGAACAGCTGGAAGAGCTCCTGACTCCCTTTCCTTCCTTTGTGGTCCAGGAGAAAGCCCCCCTCCAGCCCTAGACGTCTGCTGACTTCTATCGTGATTGGCGACGACACTTGCCAAGTGGGCCAGAGCGCTACCAGGCTCTACTGCAGCTTGGGGGTCCAAGGCTCGGCTGCCTCTTCCAGACAGATGTGGGATTTGGACTTCTTGGGGAGCTGCTGGTGGCACTGGCTGATCACGTGGGGCCGGCTGACCGGGCAGCGGTGCTGGGGATCCTATGCAGCCTGGCGAGCACTGGGCGCTTCACCCTGAACCTAAGCCTGCTGAGCCGGGCAGAGAGAGAGAGCTGCAAGGGCTTGTTTCAGAAGCTGCAAGCCATGGGCAACCCCAGATCCGTGAAGGAGGGGCTCAGCTGGGAGGAGCAGGGTCTGGAGGAGCAGTCTGGTGGGCTCCAGGAGGAGGAGAGGCTCCTGCAGGAGCTGCTGGAGCTGTACCAGGTTGACTGATGCGGCAAGCTACCCTCAGAGGTCCCAGTGGTCACTGGAGGCAGTTTTTTGGTTGTTGTCTTGGGGGTTCTGCAGGACCATAATAAGAAACCCACACCTGGTTCCCTTCTCAACTTGGAATTTTCAGAGCAAAAACAGGAATCAAGTCTTCCCCACTTCTCCAGTCCCTCAGTGTCTCGCTGTTTTGAACTGTGTGTATCCATGGACAGTCAAGAGCTCAGGAAGTTGAGAGCGGTTTTGTTTCCCACCCTTAGAGTCTGCCAAGCCTCTAGCCCACTGGCCTTGAGAGATGAGTGTGTGCCCAACCAAATGCTGGCTATACCAGTTACAGCCTCCACTCATAAAAGGGAAAAAGCAAAATCTTTATGGTAAACAAACACTGATCTCCACAGCTCTTAACAAGAATGTTTATAGCCCCAAACCAATGAATGGACATGTAATCAACAAATGATCAAATACTACATCATTTGAGGTGTTGAATTTTCCCCTAGAGACTCAGTTCTTGTGCAGGTTGGGCCTGGGAAAGTCCCAAGCCATCAGCTCAGGTCCAGCCAGCCTCCCGGATGGCCAGATATGCAGGAGGGTGGGTTTCCTTCATCCCCCAGGTTGATGAAAGACTTTTCCACCAGGCTGGCAGGGCAGGGCCTGGAGCACTGAGGCAGAGATCTCCCTGCCCGAGCACCTCGGCCCGCCCTTCTCATTCCGGTTTCCTTTGACCCATTCTTGGGTGAGCGCCAGTGTTCTAGAAAGGGGAGTAAAGGCCAGGTTCTAGAATGGCTTTCCCCCCCCACCCTGAGATCAGGTCTGGAATGTTAGAAGGGCATCTTGTACATCCACTGGGAATAAATTGCCTTGCACTTGGCGGCTTCCTCTGCAGATTGTTGCTGCTTTTCCTGGCTGCATAATCCTTTCCTCATCTAGAGGCTTCCGCTTAGCAGAGCTTTCTAGGAGCCCTATGAGCCTTTAATGCCCTGGTTTTGCCCTGCCCCTCTGACCCCTGCCTCCTTCAGGTATGCACCTGGCCCTCACCACTGTGCTCCTGTGGGCATGGGGGCTCCAGGCCTTTGAAATTGTGGAGAAGGAAAACATTTTTCAGAGGACCCCCTGCCCTGCTTTCCTGATGTTTGAAAATGCAGCCTACCTGGCCGACATGAGCTTTGAGCTTCCCTGTCACTGCAAACCCGAAGAGGTGCCAGCTGTAGTCTGGTTCTACCAAAAGCACCTAGGTAGCAGCCACACCAAAGTGCTGACGGACTTTGATGGGCGGGTGCTGACGGAGGCAGCCCAGGTACGTGTGGGCAGCGACATGCTGACCCGCTTCAGCATCCGCATGTTCAGCTTGTTGGTTTTCAGGGCTCAGTCTGAGGACTCAGGCCTGTACTTCTGCGGCACCCGCAAGGGGGACTACTTTTACGCCTACGATGTGGACATCCAGAACAGTGAGGGAATGGTGGCCACTTTCCAGGACAAGGGCCAGGAGCCCTTTGCAGATGAATACTATGGGCACCTCCATGTCTTCACCACCTTCTGGGAATGGACCCCCTGTGACCGCTGCGGAGTGCGTGGGGAGCAGTGGCGCATCGGCCTCTGCTACCTGCAGAGCCCAGACCTCTCCC
Task1_train_24749
This gene mutation involves DNAAF19 (dynein axonemal assembly factor 19) on Chromosome 17. Is it associated with any clinical condition, or is it benign?
Pathogenic; Primary ciliary dyskinesia
ATATGCAGAAACTACAGAAGTACAGTGATAGAACTAAAGGCATTGCCCAGGTACCTAGGGACCTCTGTTCCAGCCCTGGGCTGGACAGAGGGATTTGGGGATGGGGTCATTGAGCTCCTTCCTTTGCCCCTTCTACTTGATTTCCTGCTCAGTCATTGCATCTGGTTTGGGTGAAAGTCTCCTTCCTCATTAAAGACATTCAATGAAGAATGAAACTTTATCCCCGAGCTCAAGGGTAACTAACAAGAGTTCTGCCTTTGTGTGAGGTCCCCTGTCGAAACGACTTGCTGTAGAACAATCCTATGGGGGAAGAGTGAAGAAACTGAATTCTGAGATCCCAATGCCTCCTCGACTGAAGCACCAAAATTAAAAATATTTTTAGAGGCAAAGAGCAAAATTAAGACAGAACTCCAAATTGAAAGTCAGGACTCTGTATTCTATTTTCAGGGACAAGTCTTGTGTAAGTCCTCACTGTGAAATTCAACTTGTCTTTGTAAAATAGAAAACCAGATTTTTGTAACACCTCCCAATCTGAGTGACATGATGTCCAGAGTGCTTTGGGGTCATTTTGTGTTCTGGTGAATAATTCAGAGGTACCCTCTTTCCCCTGATATTGACTGTCCACTGACATGTATTCCCTTTGCCTTCCCAGGCACAGGCCATGGAAAGGAATGACATCATCAACTTCAAGGCTTTGGAGAAAGAGCTGCAGGCTGCACTCACTGCTGATGAGAAGTACAAACGGGAGAATGCTGCCAAGTTACGGGCAGTGGAACAGAGGGTGGCTTCCTATGAGGAGTTCAGGTTGGCTCACTGCCATTTTTCTCAGGCCCTCCTGTTATGGTGGATTATAGTAGTTAACTCTGAAATCAAACCATTCTGGGCTTCAGTCCTGGCCCCACCGTCTACTGTTTGATCTTATGCAATTTCCTTAACTTCTCTGAGTCTCAATTATTTATCTGTAGAACAGTAACTGTTATAATTAAATGAGTTCTTGCACATAAGACTGAGCAAGTGTCTGACACATGTGAGGTGCTTGAAAGCAGTCAGCTATCGCTGTTGTTATTATTATGGTCATATTGGTCCGTAACAGGTTTATCCTATACCATGCAAAGTCTAGCTGCCTCACACCCACAGACACAGCATTAAGTCCATTGCCTAATTTCTGTCCTTTGCCTACAGGGGTATTGTCCTTGCATCACATCTGAAGCCACTGGAGCGGAAGGATAAGATGGGAGGAAAGAGAACTGTGCCCTGGAACTGTCACACTATTCAGGGAAGGACCTTCCAGGATGTGGCCACTGAAATCTCCCCGGTAGGTGAGGCCCTGCCCCTTTAGTCCAGCAGGATTCTCTGCCCTAAAGCTTCAATCCTGTTTTTTCATTTTGTTTTGTTTTGTTTTGTTTTTTTAACCACACATACCTCTTCTTTATTTGTCATGTTAAACCAACAGAGATAGGTTTCTGCCTCCAATCCCAGAAAGAAAAACAAACAGCAGATGGCAAAGCTGAGTTGAAGTGGGCAGAATGAGTCAGAAAGTTGGGCTAGGAAGGTCGGCTTCCCTTAGTCCTTTGACTTTCATTCTCAGATCAGAATTGGGATGCTCTGCCTCTGGGTTGTATGGTGTCTAGTGTAATGATCCTGTGGCAGTGTTGAGAGAGAGACCCCAACATTCAGATCCTTGAGTTCCTTTCTCTCTTCCTGAGATTTCCAATCAACCCATCCACCCGACTTACAGTAAACCCTGACTTACTCTTGAAGACCAGAGCTATGTCTCCATTCATGAGTAGGAAAATTCCAGTATAAATGAGAATCTCAAATCATGGCGTGGATTCCTTGGGGCCCTCCCTGTTTCATCCCCAGTTTCCTCATCTGAAAATGAGGCCGCCAAGGACCACAGCTTTCCCAGTGCTCAGACAGTAGTGAGATGAAGACAGTAAGATGAAGAGCTACAGGCTCCCCTCCCTGTCACTGTTGCAGAACAGCTGGAAGAGCTCCTGACTCCCTTTCCTTCCTTTGTGGTCCAGGAGAAAGCCCCCCTCCAGCCCGAGACGTCTGCTGACTTCTATCGTGATTGGCGACGACACTTGCCAAGTGGGCCAGAGCGCTACCAGGCTCTACTGCAGCTTGGGGGTCCAAGGCTCGGCTGCCTCTTCCAGACAGATGTGGGATTTGGACTTCTTGGGGAGCTGCTGGTGGCACTGGCTGATCACGTGGGGCCGGCTGACCGGGCAGCGGTGCTGGGGATCCTATGCAGCCTGGCGAGCACTGGGCGCTTCACCCTGAACCTAAGCCTGCTGAGCCGGGCAGAGAGAGAGAGCTGCAAGGGCTTGTTTCAGAAGCTGCAAGCCATGGGCAACCCCAGATCCGTGAAGGAGGGGCTCAGCTGGGAGGAGCAGGGTCTGGAGGAGCAGTCTGGTGGGCTCCAGGAGGAGGAGAGGCTCCTGCAGGAGCTGCTGGAGCTGTACCAGGTTGACTGATGCGGCAAGCTACCCTCAGAGGTCCCAGTGGTCACTGGAGGCAGTTTTTTGGTTGTTGTCTTGGGGGTTCTGCAGGACCATAATAAGAAACCCACACCTGGTTCCCTTCTCAACTTGGAATTTTCAGAGCAAAAACAGGAATCAAGTCTTCCCCACTTCTCCAGTCCCTCAGTGTCTCGCTGTTTTGAACTGTGTGTATCCATGGACAGTCAAGAGCTCAGGAAGTTGAGAGCGGTTTTGTTTCCCACCCTTAGAGTCTGCCAAGCCTCTAGCCCACTGGCCTTGAGAGATGAGTGTGTGCCCAACCAAATGCTGGCTATACCAGTTACAGCCTCCACTCATAAAAGGGAAAAAGCAAAATCTTTATGGTAAACAAACACTGATCTCCACAGCTCTTAACAAGAATGTTTATAGCCCCAAACCAATGAATGGACATGTAATCAACAAATGATCAAATACTACATCATTTGAGGTGTTGAATTTTCCCCTAGAGACTCAGTTCTTGTGCAGGTTGGGCCTGGGAAAGTCCCAAGCCATCAGCTCAGGTCCAGCCAGCCTCCCGGATGGCCAGATATGCAGGAGGGTGGGTTTCCTTCATCCCCCAGGTTGATGAAAGACTTTTCCACCAGGCTGGCAGGGCAGGGCCTGGAGCACTGAGGCAGAGATCTCCCTGCCCGAGCACCTCGGCCCGCCCTTCTCATTCCGGTTTCCTTTGACCCATTCTTGGGTGAGCGCCAGTGTTCTAGAAAGGGGAGTAAAGGCCAGGTTCTAGAATGGCTTTCCCCCCCCACCCTGAGATCAGGTCTGGAATGTTAGAAGGGCATCTTGTACATCCACTGGGAATAAATTGCCTTGCACTTGGCGGCTTCCTCTGCAGATTGTTGCTGCTTTTCCTGGCTGCATAATCCTTTCCTCATCTAGAGGCTTCCGCTTAGCAGAGCTTTCTAGGAGCCCTATGAGCCTTTAATGCCCTGGTTTTGCCCTGCCCCTCTGACCCCTGCCTCCTTCAGGTATGCACCTGGCCCTCACCACTGTGCTCCTGTGGGCATGGGGGCTCCAGGCCTTTGAAATTGTGGAGAAGGAAAACATTTTTCAGAGGACCCCCTGCCCTGCTTTCCTGATGTTTGAAAATGCAGCCTACCTGGCCGACATGAGCTTTGAGCTTCCCTGTCACTGCAAACCCGAAGAGGTGCCAGCTGTAGTCTGGTTCTACCAAAAGCACCTAGGTAGCAGCCACACCAAAGTGCTGACGGACTTTGATGGGCGGGTGCTGACGGAGGCAGCCCAGGTACGTGTGGGCAGCGACATGCTGACCCGCTTCAGCATCCGCATGTTCAGCTTGTTGGTTTTCAGGGCTCAGTCTGAGGACTCAGGCCTGTACTTCTGCGGCACCCGCAAGGGGGACTACTTTTACGCCTACGATGTGGACATCCAGAACAGTGAGGGAATGGTGGCCACTTTCCAGGACAAGGGCCAGGAGCCCTTTGCAGATGAATACTATGGGCACCTCCATGTCTTCACCACCTTCTGGGAATGGACCCCCTGTGACCGCTGCGGAGTGCGTGGGGAGCAGTGGCGCATCGGCCTCTGCTACCTGCAGAGCCCAGACCTCTCCC
ATATGCAGAAACTACAGAAGTACAGTGATAGAACTAAAGGCATTGCCCAGGTACCTAGGGACCTCTGTTCCAGCCCTGGGCTGGACAGAGGGATTTGGGGATGGGGTCATTGAGCTCCTTCCTTTGCCCCTTCTACTTGATTTCCTGCTCAGTCATTGCATCTGGTTTGGGTGAAAGTCTCCTTCCTCATTAAAGACATTCAATGAAGAATGAAACTTTATCCCCGAGCTCAAGGGTAACTAACAAGAGTTCTGCCTTTGTGTGAGGTCCCCTGTCGAAACGACTTGCTGTAGAACAATCCTATGGGGGAAGAGTGAAGAAACTGAATTCTGAGATCCCAATGCCTCCTCGACTGAAGCACCAAAATTAAAAATATTTTTAGAGGCAAAGAGCAAAATTAAGACAGAACTCCAAATTGAAAGTCAGGACTCTGTATTCTATTTTCAGGGACAAGTCTTGTGTAAGTCCTCACTGTGAAATTCAACTTGTCTTTGTAAAATAGAAAACCAGATTTTTGTAACACCTCCCAATCTGAGTGACATGATGTCCAGAGTGCTTTGGGGTCATTTTGTGTTCTGGTGAATAATTCAGAGGTACCCTCTTTCCCCTGATATTGACTGTCCACTGACATGTATTCCCTTTGCCTTCCCAGGCACAGGCCATGGAAAGGAATGACATCATCAACTTCAAGGCTTTGGAGAAAGAGCTGCAGGCTGCACTCACTGCTGATGAGAAGTACAAACGGGAGAATGCTGCCAAGTTACGGGCAGTGGAACAGAGGGTGGCTTCCTATGAGGAGTTCAGGTTGGCTCACTGCCATTTTTCTCAGGCCCTCCTGTTATGGTGGATTATAGTAGTTAACTCTGAAATCAAACCATTCTGGGCTTCAGTCCTGGCCCCACCGTCTACTGTTTGATCTTATGCAATTTCCTTAACTTCTCTGAGTCTCAATTATTTATCTGTAGAACAGTAACTGTTATAATTAAATGAGTTCTTGCACATAAGACTGAGCAAGTGTCTGACACATGTGAGGTGCTTGAAAGCAGTCAGCTATCGCTGTTGTTATTATTATGGTCATATTGGTCCGTAACAGGTTTATCCTATACCATGCAAAGTCTAGCTGCCTCACACCCACAGACACAGCATTAAGTCCATTGCCTAATTTCTGTCCTTTGCCTACAGGGGTATTGTCCTTGCATCACATCTGAAGCCACTGGAGCGGAAGGATAAGATGGGAGGAAAGAGAACTGTGCCCTGGAACTGTCACACTATTCAGGGAAGGACCTTCCAGGATGTGGCCACTGAAATCTCCCCGGTAGGTGAGGCCCTGCCCCTTTAGTCCAGCAGGATTCTCTGCCCTAAAGCTTCAATCCTGTTTTTTCATTTTGTTTTGTTTTGTTTTGTTTTTTTAACCACACATACCTCTTCTTTATTTGTCATGTTAAACCAACAGAGATAGGTTTCTGCCTCCAATCCCAGAAAGAAAAACAAACAGCAGATGGCAAAGCTGAGTTGAAGTGGGCAGAATGAGTCAGAAAGTTGGGCTAGGAAGGTCGGCTTCCCTTAGTCCTTTGACTTTCATTCTCAGATCAGAATTGGGATGCTCTGCCTCTGGGTTGTATGGTGTCTAGTGTAATGATCCTGTGGCAGTGTTGAGAGAGAGACCCCAACATTCAGATCCTTGAGTTCCTTTCTCTCTTCCTGAGATTTCCAATCAACCCATCCACCCGACTTACAGTAAACCCTGACTTACTCTTGAAGACCAGAGCTATGTCTCCATTCATGAGTAGGAAAATTCCAGTATAAATGAGAATCTCAAATCATGGCGTGGATTCCTTGGGGCCCTCCCTGTTTCATCCCCAGTTTCCTCATCTGAAAATGAGGCCGCCAAGGACCACAGCTTTCCCAGTGCTCAGACAGTAGTGAGATGAAGACAGTAAGATGAAGAGCTACAGGCTCCCCTCCCTGTCACTGTTGCAGAACAGCTGGAAGAGCTCCTGACTCCCTTTCCTTCCTTTGTGGTCCAGGAGAAAGCCCCCCTCCAGCCCTAGACGTCTGCTGACTTCTATCGTGATTGGCGACGACACTTGCCAAGTGGGCCAGAGCGCTACCAGGCTCTACTGCAGCTTGGGGGTCCAAGGCTCGGCTGCCTCTTCCAGACAGATGTGGGATTTGGACTTCTTGGGGAGCTGCTGGTGGCACTGGCTGATCACGTGGGGCCGGCTGACCGGGCAGCGGTGCTGGGGATCCTATGCAGCCTGGCGAGCACTGGGCGCTTCACCCTGAACCTAAGCCTGCTGAGCCGGGCAGAGAGAGAGAGCTGCAAGGGCTTGTTTCAGAAGCTGCAAGCCATGGGCAACCCCAGATCCGTGAAGGAGGGGCTCAGCTGGGAGGAGCAGGGTCTGGAGGAGCAGTCTGGTGGGCTCCAGGAGGAGGAGAGGCTCCTGCAGGAGCTGCTGGAGCTGTACCAGGTTGACTGATGCGGCAAGCTACCCTCAGAGGTCCCAGTGGTCACTGGAGGCAGTTTTTTGGTTGTTGTCTTGGGGGTTCTGCAGGACCATAATAAGAAACCCACACCTGGTTCCCTTCTCAACTTGGAATTTTCAGAGCAAAAACAGGAATCAAGTCTTCCCCACTTCTCCAGTCCCTCAGTGTCTCGCTGTTTTGAACTGTGTGTATCCATGGACAGTCAAGAGCTCAGGAAGTTGAGAGCGGTTTTGTTTCCCACCCTTAGAGTCTGCCAAGCCTCTAGCCCACTGGCCTTGAGAGATGAGTGTGTGCCCAACCAAATGCTGGCTATACCAGTTACAGCCTCCACTCATAAAAGGGAAAAAGCAAAATCTTTATGGTAAACAAACACTGATCTCCACAGCTCTTAACAAGAATGTTTATAGCCCCAAACCAATGAATGGACATGTAATCAACAAATGATCAAATACTACATCATTTGAGGTGTTGAATTTTCCCCTAGAGACTCAGTTCTTGTGCAGGTTGGGCCTGGGAAAGTCCCAAGCCATCAGCTCAGGTCCAGCCAGCCTCCCGGATGGCCAGATATGCAGGAGGGTGGGTTTCCTTCATCCCCCAGGTTGATGAAAGACTTTTCCACCAGGCTGGCAGGGCAGGGCCTGGAGCACTGAGGCAGAGATCTCCCTGCCCGAGCACCTCGGCCCGCCCTTCTCATTCCGGTTTCCTTTGACCCATTCTTGGGTGAGCGCCAGTGTTCTAGAAAGGGGAGTAAAGGCCAGGTTCTAGAATGGCTTTCCCCCCCCACCCTGAGATCAGGTCTGGAATGTTAGAAGGGCATCTTGTACATCCACTGGGAATAAATTGCCTTGCACTTGGCGGCTTCCTCTGCAGATTGTTGCTGCTTTTCCTGGCTGCATAATCCTTTCCTCATCTAGAGGCTTCCGCTTAGCAGAGCTTTCTAGGAGCCCTATGAGCCTTTAATGCCCTGGTTTTGCCCTGCCCCTCTGACCCCTGCCTCCTTCAGGTATGCACCTGGCCCTCACCACTGTGCTCCTGTGGGCATGGGGGCTCCAGGCCTTTGAAATTGTGGAGAAGGAAAACATTTTTCAGAGGACCCCCTGCCCTGCTTTCCTGATGTTTGAAAATGCAGCCTACCTGGCCGACATGAGCTTTGAGCTTCCCTGTCACTGCAAACCCGAAGAGGTGCCAGCTGTAGTCTGGTTCTACCAAAAGCACCTAGGTAGCAGCCACACCAAAGTGCTGACGGACTTTGATGGGCGGGTGCTGACGGAGGCAGCCCAGGTACGTGTGGGCAGCGACATGCTGACCCGCTTCAGCATCCGCATGTTCAGCTTGTTGGTTTTCAGGGCTCAGTCTGAGGACTCAGGCCTGTACTTCTGCGGCACCCGCAAGGGGGACTACTTTTACGCCTACGATGTGGACATCCAGAACAGTGAGGGAATGGTGGCCACTTTCCAGGACAAGGGCCAGGAGCCCTTTGCAGATGAATACTATGGGCACCTCCATGTCTTCACCACCTTCTGGGAATGGACCCCCTGTGACCGCTGCGGAGTGCGTGGGGAGCAGTGGCGCATCGGCCTCTGCTACCTGCAGAGCCCAGACCTCTCCC
Task1_train_24750
The gene GFAP (glial fibrillary acidic protein) is located on Chromosome 17, where a mutation has occurred. What is the medical relevance of this mutation?
Pathogenic; Alexander disease
GAGTAAGAAGGGACCGCAAGAGGCCCTTGGCTTAGGGAAAAGCAGCCGGTCACTATGGGGTGGAGAGGGTCAGACGTGTGGCAGTGGCTTACTGGGGTTAAGAAGCAGCAGTCCCAGGGGCTCAGAGGCTGGGGCGGCCTGGTATGACACAGCAAGGAAGAGGCCTTTAGAAATGGGACAAAGTCATGCCCTGCCCCCATGGATACATCCCCTTTCTCTCCTGTTTCAGCATCTTCAAGAGGATGAGTCACTTCCTTAATTCCCACAATCCAGAGGCCAAGTGCAACTGGTCACCCACAACCCCTACTTGTATGCCTAGCGCCATCCCAATTGCCTCCTCCTCCATCTCTACCAGCGTCCCCTCCAGTCTGCACGGGGCAGTCCTCCTGGGCTTGACCTCTCTGTACCCACAGCTGGGGGCCAGGCAGCCCCCCTCTATCCCTCCCAGCACCTCATCCCTCTCCACGTACACAACAGATCCCCCAAGTGCTGAGAATCAAGCTCCCACCTGCCCACAGCGTGCCCACAGATGGCATCCCTGGATGGCAGCTCAGGTGGACTGAGACACTTGAGTCATCGCTCAGGAGGTCCTTCTGGGATCTGGGCAGGTGACTGCCCCAGGTGGCAGGACGTCCCCACCCATCTTAGACTGATCAGGGTCAGTCTAGGAGAACAACCCTCTGAGCTGGGCATGGTGGCTCCAATCTATAATCCCAGCTACACAGGAGGCTGAGGTGGGTAGACTGCTTGAGCCCAGGAGTTCAAGGTCAGCCTAGGCAGCATAGGGATATCCCACCTCATAAAAACCAAAAGACAAAACAAGCCTCTGGCCAGGGCTACCTTGTCTGTGGGGCCTTCCCTTTCCTGTCTGAGTCTCAGTTTTCCTCCAGCAGCCTGAGGAAACTCAAAGGCACAGTTCCCAGATACTCCGAGAGAACCTCCATCTCTGGCAACAGTTTCCATAACAACAGGAATCAGGGATGTGGAGGGCGATGTAGTAGGTGCCCCCCGCCCTCCTCCCCTTCTCTCCTTCCTCCTCATTCTAACGCAAGCTGCTGGCCATGCCCCTCCAGACTGCCCCTTGGGGGTGAGTTTCTTGTTAGTTGGAGTTGCTGGGTGCTGGGTGGGTGCCGTCTGGCAGGCCTGATACTGACGGAGCCTAGGGCAGCAAGCTGACCTAGGGACAGAGGAGGGAGGGGAGCAGCTGGGGTGGTGGGGAGCTCAGGTCTGGGGAAATGTGCCAGCAGAGGCGGAGCAACTATCCTGCTTCTGCTCGGGCCCCTCATGAGACGGGGCAGAGGCCACCAGGTGGGTCCTGCCTCACATCACATCCTTGTGCTCCTGCTTGGACTCCTTAATGACCTGCAGGGGACAGGGAACGTGCACAGTGCAACAGTTAGGAGTTCACACAGACCCCAGGTCCACCACCACGAGGCTGTGTAACCTTGGGAAGTCCCCGACTTCCCAGGTCTTACTTTTCTTGATAGTAACCACAGCTGCCTTGCGTGGTGGACAGAGGGGGTGGTGAGATAACACTGGGAAAGCATTTAGCGTCATGCCTGGCGAGTGGTAAGCTGCTGGAGTAAGATGAGCTCCCACTGTGGTTGGAGTGGCGTGGCGGATACGCCAAATCCCCTCTTCCCATTCCCCTGGTAGTTTCCTTTTACCAAGCTGGAAATGGAAAGCCCTCCCCATCCCCAACTGTGTCTGCTAGAGTTGGAAGTGAAAGCTACTAACTTTAATTCTCTTTCTCTCCCTGGCAAGCAAGGCCCCCGAGTTTGAGGGTGAGAAAGAGAGAGTGTGTATTAGGATCCCATCTAGTGGCTTTGGTACCAAGGCTCCCCTTAGAACAGCCTATGGAGGGACTGAGGAAACGGAATTACATTCAGTTTCCTTGCTCTCCTCCAGAATTCCCTGGGGAGCTACTGGGAGTTGCTGGGAACCTTCTATGTGCCAGCCCCAGGCTTTCCTCCATGGCCTGGCCTTGAGAATCCCTGGGGCCAGCCAGAGCCTGACTGGGCCCAAATCCCTCCTTACCTCTCCATCCCGCATCTCCACGGTCTTCACCACGATGTTCCTCTTGAGGTGGCCTTCTGACACAGACTTGGTGTCCAGGCTGGTTTCTGCAGATGTGGGGAGAGGAGGCCTCTCATGGACTTTCAGGGCATGAGCCATCCTCTCCCATGCCCGGCTTCCCCATCGCACCCCCCTCCCCATCATGAGTATGAGAACCTATGCAACCGAGCAGAGAGAGCCTAGGCTCTTCCAAACGGGCTGGAGAGCCCCCAAATCCCAATAGTGCTGCTGCCAGAGTCCTGGCTGCTCTGTCTTCTGGCCTGGCTTCATTTCAGCCCCTCTGCAAGCCCTGGCCTGGCACCTGGCTTTCTGAAAACCCAGCACGGTATTGAAATCAGGAGACCAGGAGGGGTGCGGTGGCTCACACCTATAATGCCATCATTTTGGGAGGCTGAGGCAGGTGGATCACCTGACGCCAGGAGTTCGAGACCAGCCTGGCCAACATAGTGAAACCTCTACTAAAAATACAAAAAATAGGCCAGGCATGGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCCGAGGCAGGTGGATCGCCTGAGGTCAGGAGTTTGAGACCAGCCTGACTAATATGGTGAAACCCTGTCTCTACTAAAAATACAAAAATTAGTCAGGCATGGTGACAGGTGCCTGTAGTCCCAGCTACTCAGGAGGCTGAGAGAGGAGAATCACTTGAACCTGGGAGGCGGAGGTTGCAGTAAGCTGCGATCGTGCCACTGCACTCCAGCCTGAGCAACAGAGTAAGACTCCGTCGAAAGCAGGCAAGCAAGCAAGCAAGCAAGCAGGAAAGAGAAAGGAAGGAAGGAAGGAAGGAAGGAAGAAAGAAAGAAAGAAAGAAAAAGAAAGATTAGCCAGGTGTGGTGGCTCGCACCTGTAATCCCCTTACTCGGGAGTCTGAGGCACGAGAATTGCTTGAACCTGGGAGGTGGAGGTTGCAGTGAGCCAAGATTGCACTACTGCATTCCAGCCTGAGTGACAGAGGGACGCTCTGCCGAAGGAAGGAAGGAAAGAAGGAAGGAAGGAAGAAAAGAAGGAAGGAAGGAAGGAAGGATCAGGAGACCAGAGCTCAAGAAGTCCCAACTTAGCCACCAACCAGCCACATGACTCTGGGCAAGTTAATTGACCTCTCCCAGCCTCAGTTTCCTCATCTGTAAAATAAGGATGATGGGGCCTACTTCTCTAGGTGGGAGAGAGGAGACAATTAACTAAAATAAAGGCTGTTAAACATGTGGCACATATTAGTGCTCAATACACATAGGTCCCTTTCCTGTCCCCTTTCCTCTTTCCTACTTCTCTCTGCCATTTATCTGTGCTTTAGTGACCTGTGACTATCTAGGATTTGGCAGTATTACCTCTACTAGTCAGCCTGGTTAGCCTTTCTGATGCTGAATTAAGTCCTGAGACATGCATATCTAGTGGTCCTAAATATTCTAGTCCAGAAGAAGAGGAATTTTGTTCCTTAGCTAAGAATCATTTCAGGGCCAATGCAAGTAAAAAGTAATTTAGCTCCCCCCTCCCCCCGCCCCGCCCGAGAGAGAAAAATATAACACGTCACATTCACTAATATTTAACATTAAGAGCAGGGAACATAAAACTTTATTCACTGCAAGAGCTGCGGTCCTGAGGGAAGAATCCTCTGAACTGAGTCAGCACTGAGCTGAGCGATGGAGCCTCAGGGATGAAAGAATAAAGCAGAGAGCCTGGCGTCCAGGCACAGCGAGACCCAAGGGGCCCTCCCAGTGACAGGAAGAGGTGAGACAGAGGCTGCTGCTTGCTCAGAGGCCCCAGAGCAGCTCCACTGCGCACCCAAGGACTCACCACCTTTACCACTAACAAGCTCTGCCAGTTTAATGTACAGTTACTCTGTACCACGTCCTGGGCTGGGCACTGCAGTTCCTGGGAAAATGACGCAGTCCAGGCCCTTTAGGGGAAGCCTGGGAAGAGGGAACTCAGGGGGATTGGGAGGATGGGGTGGGTGAGGCTCACTCCCTGTCAAGCTGGGCAAAGCGCCGTGTCT
GAGTAAGAAGGGACCGCAAGAGGCCCTTGGCTTAGGGAAAAGCAGCCGGTCACTATGGGGTGGAGAGGGTCAGACGTGTGGCAGTGGCTTACTGGGGTTAAGAAGCAGCAGTCCCAGGGGCTCAGAGGCTGGGGCGGCCTGGTATGACACAGCAAGGAAGAGGCCTTTAGAAATGGGACAAAGTCATGCCCTGCCCCCATGGATACATCCCCTTTCTCTCCTGTTTCAGCATCTTCAAGAGGATGAGTCACTTCCTTAATTCCCACAATCCAGAGGCCAAGTGCAACTGGTCACCCACAACCCCTACTTGTATGCCTAGCGCCATCCCAATTGCCTCCTCCTCCATCTCTACCAGCGTCCCCTCCAGTCTGCACGGGGCAGTCCTCCTGGGCTTGACCTCTCTGTACCCACAGCTGGGGGCCAGGCAGCCCCCCTCTATCCCTCCCAGCACCTCATCCCTCTCCACGTACACAACAGATCCCCCAAGTGCTGAGAATCAAGCTCCCACCTGCCCACAGCGTGCCCACAGATGGCATCCCTGGATGGCAGCTCAGGTGGACTGAGACACTTGAGTCATCGCTCAGGAGGTCCTTCTGGGATCTGGGCAGGTGACTGCCCCAGGTGGCAGGACGTCCCCACCCATCTTAGACTGATCAGGGTCAGTCTAGGAGAACAACCCTCTGAGCTGGGCATGGTGGCTCCAATCTATAATCCCAGCTACACAGGAGGCTGAGGTGGGTAGACTGCTTGAGCCCAGGAGTTCAAGGTCAGCCTAGGCAGCATAGGGATATCCCACCTCATAAAAACCAAAAGACAAAACAAGCCTCTGGCCAGGGCTACCTTGTCTGTGGGGCCTTCCCTTTCCTGTCTGAGTCTCAGTTTTCCTCCAGCAGCCTGAGGAAACTCAAAGGCACAGTTCCCAGATACTCCGAGAGAACCTCCATCTCTGGCAACAGTTTCCATAACAACAGGAATCAGGGATGTGGAGGGCGATGTAGTAGGTGCCCCCCGCCCTCCTCCCCTTCTCTCCTTCCTCCTCATTCTAACGCAAGCTGCTGGCCATGCCCCTCCAGACTGCCCCTTGGGGGTGAGTTTCTTGTTAGTTGGAGTTGCTGGGTGCTGGGTGGGTGCCGTCTGGCAGGCCTGATACTGACGGAGCCTAGGGCAGCAAGCTGACCTAGGGACAGAGGAGGGAGGGGAGCAGCTGGGGTGGTGGGGAGCTCAGGTCTGGGGAAATGTGCCAGCAGAGGCGGAGCAACTATCCTGCTTCTGCTCGGGCCCCTCATGAGACGGGGCAGAGGCCACCAGGTGGGTCCTGCCTCACATCACATCCTTGTGCTCCTGCTTGGACTCCTTAATGACCTGCAGGGGACAGGGAACGTGCACAGTGCAACAGTTAGGAGTTCACACAGACCCCAGGTCCACCACCACGAGGCTGTGTAACCTTGGGAAGTCCCCGACTTCCCAGGTCTTACTTTTCTTGATAGTAACCACAGCTGCCTTGCGTGGTGGACAGAGGGGGTGGTGAGATAACACTGGGAAAGCATTTAGCGTCATGCCTGGCGAGTGGTAAGCTGCTGGAGTAAGATGAGCTCCCACTGTGGTTGGAGTGGCGTGGCGGATACGCCAAATCCCCTCTTCCCATTCCCCTGGTAGTTTCCTTTTACCAAGCTGGAAATGGAAAGCCCTCCCCATCCCCAACTGTGTCTGCTAGAGTTGGAAGTGAAAGCTACTAACTTTAATTCTCTTTCTCTCCCTGGCAAGCAAGGCCCCCGAGTTTGAGGGTGAGAAAGAGAGAGTGTGTATTAGGATCCCATCTAGTGGCTTTGGTACCAAGGCTCCCCTTAGAACAGCCTATGGAGGGACTGAGGAAACGGAATTACATTCAGTTTCCTTGCTCTCCTCCAGAATTCCCTGGGGAGCTACTGGGAGTTGCTGGGAACCTTCTATGTGCCAGCCCCAGGCTTTCCTCCATGGCCTGGCCTTGAGAATCCCTGGGGCCAGCCAGAGCCTGACTGGGCCCAAATCCCTCCTTACCTCTCCATCCCACATCTCCACGGTCTTCACCACGATGTTCCTCTTGAGGTGGCCTTCTGACACAGACTTGGTGTCCAGGCTGGTTTCTGCAGATGTGGGGAGAGGAGGCCTCTCATGGACTTTCAGGGCATGAGCCATCCTCTCCCATGCCCGGCTTCCCCATCGCACCCCCCTCCCCATCATGAGTATGAGAACCTATGCAACCGAGCAGAGAGAGCCTAGGCTCTTCCAAACGGGCTGGAGAGCCCCCAAATCCCAATAGTGCTGCTGCCAGAGTCCTGGCTGCTCTGTCTTCTGGCCTGGCTTCATTTCAGCCCCTCTGCAAGCCCTGGCCTGGCACCTGGCTTTCTGAAAACCCAGCACGGTATTGAAATCAGGAGACCAGGAGGGGTGCGGTGGCTCACACCTATAATGCCATCATTTTGGGAGGCTGAGGCAGGTGGATCACCTGACGCCAGGAGTTCGAGACCAGCCTGGCCAACATAGTGAAACCTCTACTAAAAATACAAAAAATAGGCCAGGCATGGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCCGAGGCAGGTGGATCGCCTGAGGTCAGGAGTTTGAGACCAGCCTGACTAATATGGTGAAACCCTGTCTCTACTAAAAATACAAAAATTAGTCAGGCATGGTGACAGGTGCCTGTAGTCCCAGCTACTCAGGAGGCTGAGAGAGGAGAATCACTTGAACCTGGGAGGCGGAGGTTGCAGTAAGCTGCGATCGTGCCACTGCACTCCAGCCTGAGCAACAGAGTAAGACTCCGTCGAAAGCAGGCAAGCAAGCAAGCAAGCAAGCAGGAAAGAGAAAGGAAGGAAGGAAGGAAGGAAGGAAGAAAGAAAGAAAGAAAGAAAAAGAAAGATTAGCCAGGTGTGGTGGCTCGCACCTGTAATCCCCTTACTCGGGAGTCTGAGGCACGAGAATTGCTTGAACCTGGGAGGTGGAGGTTGCAGTGAGCCAAGATTGCACTACTGCATTCCAGCCTGAGTGACAGAGGGACGCTCTGCCGAAGGAAGGAAGGAAAGAAGGAAGGAAGGAAGAAAAGAAGGAAGGAAGGAAGGAAGGATCAGGAGACCAGAGCTCAAGAAGTCCCAACTTAGCCACCAACCAGCCACATGACTCTGGGCAAGTTAATTGACCTCTCCCAGCCTCAGTTTCCTCATCTGTAAAATAAGGATGATGGGGCCTACTTCTCTAGGTGGGAGAGAGGAGACAATTAACTAAAATAAAGGCTGTTAAACATGTGGCACATATTAGTGCTCAATACACATAGGTCCCTTTCCTGTCCCCTTTCCTCTTTCCTACTTCTCTCTGCCATTTATCTGTGCTTTAGTGACCTGTGACTATCTAGGATTTGGCAGTATTACCTCTACTAGTCAGCCTGGTTAGCCTTTCTGATGCTGAATTAAGTCCTGAGACATGCATATCTAGTGGTCCTAAATATTCTAGTCCAGAAGAAGAGGAATTTTGTTCCTTAGCTAAGAATCATTTCAGGGCCAATGCAAGTAAAAAGTAATTTAGCTCCCCCCTCCCCCCGCCCCGCCCGAGAGAGAAAAATATAACACGTCACATTCACTAATATTTAACATTAAGAGCAGGGAACATAAAACTTTATTCACTGCAAGAGCTGCGGTCCTGAGGGAAGAATCCTCTGAACTGAGTCAGCACTGAGCTGAGCGATGGAGCCTCAGGGATGAAAGAATAAAGCAGAGAGCCTGGCGTCCAGGCACAGCGAGACCCAAGGGGCCCTCCCAGTGACAGGAAGAGGTGAGACAGAGGCTGCTGCTTGCTCAGAGGCCCCAGAGCAGCTCCACTGCGCACCCAAGGACTCACCACCTTTACCACTAACAAGCTCTGCCAGTTTAATGTACAGTTACTCTGTACCACGTCCTGGGCTGGGCACTGCAGTTCCTGGGAAAATGACGCAGTCCAGGCCCTTTAGGGGAAGCCTGGGAAGAGGGAACTCAGGGGGATTGGGAGGATGGGGTGGGTGAGGCTCACTCCCTGTCAAGCTGGGCAAAGCGCCGTGTCT
Task1_train_24751
This variant impacts the gene GFAP (glial fibrillary acidic protein) on Chromosome 17. Is the change likely to result in a pathogenic outcome?
Pathogenic; Inborn genetic diseases
GAGTAAGAAGGGACCGCAAGAGGCCCTTGGCTTAGGGAAAAGCAGCCGGTCACTATGGGGTGGAGAGGGTCAGACGTGTGGCAGTGGCTTACTGGGGTTAAGAAGCAGCAGTCCCAGGGGCTCAGAGGCTGGGGCGGCCTGGTATGACACAGCAAGGAAGAGGCCTTTAGAAATGGGACAAAGTCATGCCCTGCCCCCATGGATACATCCCCTTTCTCTCCTGTTTCAGCATCTTCAAGAGGATGAGTCACTTCCTTAATTCCCACAATCCAGAGGCCAAGTGCAACTGGTCACCCACAACCCCTACTTGTATGCCTAGCGCCATCCCAATTGCCTCCTCCTCCATCTCTACCAGCGTCCCCTCCAGTCTGCACGGGGCAGTCCTCCTGGGCTTGACCTCTCTGTACCCACAGCTGGGGGCCAGGCAGCCCCCCTCTATCCCTCCCAGCACCTCATCCCTCTCCACGTACACAACAGATCCCCCAAGTGCTGAGAATCAAGCTCCCACCTGCCCACAGCGTGCCCACAGATGGCATCCCTGGATGGCAGCTCAGGTGGACTGAGACACTTGAGTCATCGCTCAGGAGGTCCTTCTGGGATCTGGGCAGGTGACTGCCCCAGGTGGCAGGACGTCCCCACCCATCTTAGACTGATCAGGGTCAGTCTAGGAGAACAACCCTCTGAGCTGGGCATGGTGGCTCCAATCTATAATCCCAGCTACACAGGAGGCTGAGGTGGGTAGACTGCTTGAGCCCAGGAGTTCAAGGTCAGCCTAGGCAGCATAGGGATATCCCACCTCATAAAAACCAAAAGACAAAACAAGCCTCTGGCCAGGGCTACCTTGTCTGTGGGGCCTTCCCTTTCCTGTCTGAGTCTCAGTTTTCCTCCAGCAGCCTGAGGAAACTCAAAGGCACAGTTCCCAGATACTCCGAGAGAACCTCCATCTCTGGCAACAGTTTCCATAACAACAGGAATCAGGGATGTGGAGGGCGATGTAGTAGGTGCCCCCCGCCCTCCTCCCCTTCTCTCCTTCCTCCTCATTCTAACGCAAGCTGCTGGCCATGCCCCTCCAGACTGCCCCTTGGGGGTGAGTTTCTTGTTAGTTGGAGTTGCTGGGTGCTGGGTGGGTGCCGTCTGGCAGGCCTGATACTGACGGAGCCTAGGGCAGCAAGCTGACCTAGGGACAGAGGAGGGAGGGGAGCAGCTGGGGTGGTGGGGAGCTCAGGTCTGGGGAAATGTGCCAGCAGAGGCGGAGCAACTATCCTGCTTCTGCTCGGGCCCCTCATGAGACGGGGCAGAGGCCACCAGGTGGGTCCTGCCTCACATCACATCCTTGTGCTCCTGCTTGGACTCCTTAATGACCTGCAGGGGACAGGGAACGTGCACAGTGCAACAGTTAGGAGTTCACACAGACCCCAGGTCCACCACCACGAGGCTGTGTAACCTTGGGAAGTCCCCGACTTCCCAGGTCTTACTTTTCTTGATAGTAACCACAGCTGCCTTGCGTGGTGGACAGAGGGGGTGGTGAGATAACACTGGGAAAGCATTTAGCGTCATGCCTGGCGAGTGGTAAGCTGCTGGAGTAAGATGAGCTCCCACTGTGGTTGGAGTGGCGTGGCGGATACGCCAAATCCCCTCTTCCCATTCCCCTGGTAGTTTCCTTTTACCAAGCTGGAAATGGAAAGCCCTCCCCATCCCCAACTGTGTCTGCTAGAGTTGGAAGTGAAAGCTACTAACTTTAATTCTCTTTCTCTCCCTGGCAAGCAAGGCCCCCGAGTTTGAGGGTGAGAAAGAGAGAGTGTGTATTAGGATCCCATCTAGTGGCTTTGGTACCAAGGCTCCCCTTAGAACAGCCTATGGAGGGACTGAGGAAACGGAATTACATTCAGTTTCCTTGCTCTCCTCCAGAATTCCCTGGGGAGCTACTGGGAGTTGCTGGGAACCTTCTATGTGCCAGCCCCAGGCTTTCCTCCATGGCCTGGCCTTGAGAATCCCTGGGGCCAGCCAGAGCCTGACTGGGCCCAAATCCCTCCTTACCTCTCCATCCCGCATCTCCACGGTCTTCACCACGATGTTCCTCTTGAGGTGGCCTTCTGACACAGACTTGGTGTCCAGGCTGGTTTCTGCAGATGTGGGGAGAGGAGGCCTCTCATGGACTTTCAGGGCATGAGCCATCCTCTCCCATGCCCGGCTTCCCCATCGCACCCCCCTCCCCATCATGAGTATGAGAACCTATGCAACCGAGCAGAGAGAGCCTAGGCTCTTCCAAACGGGCTGGAGAGCCCCCAAATCCCAATAGTGCTGCTGCCAGAGTCCTGGCTGCTCTGTCTTCTGGCCTGGCTTCATTTCAGCCCCTCTGCAAGCCCTGGCCTGGCACCTGGCTTTCTGAAAACCCAGCACGGTATTGAAATCAGGAGACCAGGAGGGGTGCGGTGGCTCACACCTATAATGCCATCATTTTGGGAGGCTGAGGCAGGTGGATCACCTGACGCCAGGAGTTCGAGACCAGCCTGGCCAACATAGTGAAACCTCTACTAAAAATACAAAAAATAGGCCAGGCATGGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCCGAGGCAGGTGGATCGCCTGAGGTCAGGAGTTTGAGACCAGCCTGACTAATATGGTGAAACCCTGTCTCTACTAAAAATACAAAAATTAGTCAGGCATGGTGACAGGTGCCTGTAGTCCCAGCTACTCAGGAGGCTGAGAGAGGAGAATCACTTGAACCTGGGAGGCGGAGGTTGCAGTAAGCTGCGATCGTGCCACTGCACTCCAGCCTGAGCAACAGAGTAAGACTCCGTCGAAAGCAGGCAAGCAAGCAAGCAAGCAAGCAGGAAAGAGAAAGGAAGGAAGGAAGGAAGGAAGGAAGAAAGAAAGAAAGAAAGAAAAAGAAAGATTAGCCAGGTGTGGTGGCTCGCACCTGTAATCCCCTTACTCGGGAGTCTGAGGCACGAGAATTGCTTGAACCTGGGAGGTGGAGGTTGCAGTGAGCCAAGATTGCACTACTGCATTCCAGCCTGAGTGACAGAGGGACGCTCTGCCGAAGGAAGGAAGGAAAGAAGGAAGGAAGGAAGAAAAGAAGGAAGGAAGGAAGGAAGGATCAGGAGACCAGAGCTCAAGAAGTCCCAACTTAGCCACCAACCAGCCACATGACTCTGGGCAAGTTAATTGACCTCTCCCAGCCTCAGTTTCCTCATCTGTAAAATAAGGATGATGGGGCCTACTTCTCTAGGTGGGAGAGAGGAGACAATTAACTAAAATAAAGGCTGTTAAACATGTGGCACATATTAGTGCTCAATACACATAGGTCCCTTTCCTGTCCCCTTTCCTCTTTCCTACTTCTCTCTGCCATTTATCTGTGCTTTAGTGACCTGTGACTATCTAGGATTTGGCAGTATTACCTCTACTAGTCAGCCTGGTTAGCCTTTCTGATGCTGAATTAAGTCCTGAGACATGCATATCTAGTGGTCCTAAATATTCTAGTCCAGAAGAAGAGGAATTTTGTTCCTTAGCTAAGAATCATTTCAGGGCCAATGCAAGTAAAAAGTAATTTAGCTCCCCCCTCCCCCCGCCCCGCCCGAGAGAGAAAAATATAACACGTCACATTCACTAATATTTAACATTAAGAGCAGGGAACATAAAACTTTATTCACTGCAAGAGCTGCGGTCCTGAGGGAAGAATCCTCTGAACTGAGTCAGCACTGAGCTGAGCGATGGAGCCTCAGGGATGAAAGAATAAAGCAGAGAGCCTGGCGTCCAGGCACAGCGAGACCCAAGGGGCCCTCCCAGTGACAGGAAGAGGTGAGACAGAGGCTGCTGCTTGCTCAGAGGCCCCAGAGCAGCTCCACTGCGCACCCAAGGACTCACCACCTTTACCACTAACAAGCTCTGCCAGTTTAATGTACAGTTACTCTGTACCACGTCCTGGGCTGGGCACTGCAGTTCCTGGGAAAATGACGCAGTCCAGGCCCTTTAGGGGAAGCCTGGGAAGAGGGAACTCAGGGGGATTGGGAGGATGGGGTGGGTGAGGCTCACTCCCTGTCAAGCTGGGCAAAGCGCCGTGTCT
GAGTAAGAAGGGACCGCAAGAGGCCCTTGGCTTAGGGAAAAGCAGCCGGTCACTATGGGGTGGAGAGGGTCAGACGTGTGGCAGTGGCTTACTGGGGTTAAGAAGCAGCAGTCCCAGGGGCTCAGAGGCTGGGGCGGCCTGGTATGACACAGCAAGGAAGAGGCCTTTAGAAATGGGACAAAGTCATGCCCTGCCCCCATGGATACATCCCCTTTCTCTCCTGTTTCAGCATCTTCAAGAGGATGAGTCACTTCCTTAATTCCCACAATCCAGAGGCCAAGTGCAACTGGTCACCCACAACCCCTACTTGTATGCCTAGCGCCATCCCAATTGCCTCCTCCTCCATCTCTACCAGCGTCCCCTCCAGTCTGCACGGGGCAGTCCTCCTGGGCTTGACCTCTCTGTACCCACAGCTGGGGGCCAGGCAGCCCCCCTCTATCCCTCCCAGCACCTCATCCCTCTCCACGTACACAACAGATCCCCCAAGTGCTGAGAATCAAGCTCCCACCTGCCCACAGCGTGCCCACAGATGGCATCCCTGGATGGCAGCTCAGGTGGACTGAGACACTTGAGTCATCGCTCAGGAGGTCCTTCTGGGATCTGGGCAGGTGACTGCCCCAGGTGGCAGGACGTCCCCACCCATCTTAGACTGATCAGGGTCAGTCTAGGAGAACAACCCTCTGAGCTGGGCATGGTGGCTCCAATCTATAATCCCAGCTACACAGGAGGCTGAGGTGGGTAGACTGCTTGAGCCCAGGAGTTCAAGGTCAGCCTAGGCAGCATAGGGATATCCCACCTCATAAAAACCAAAAGACAAAACAAGCCTCTGGCCAGGGCTACCTTGTCTGTGGGGCCTTCCCTTTCCTGTCTGAGTCTCAGTTTTCCTCCAGCAGCCTGAGGAAACTCAAAGGCACAGTTCCCAGATACTCCGAGAGAACCTCCATCTCTGGCAACAGTTTCCATAACAACAGGAATCAGGGATGTGGAGGGCGATGTAGTAGGTGCCCCCCGCCCTCCTCCCCTTCTCTCCTTCCTCCTCATTCTAACGCAAGCTGCTGGCCATGCCCCTCCAGACTGCCCCTTGGGGGTGAGTTTCTTGTTAGTTGGAGTTGCTGGGTGCTGGGTGGGTGCCGTCTGGCAGGCCTGATACTGACGGAGCCTAGGGCAGCAAGCTGACCTAGGGACAGAGGAGGGAGGGGAGCAGCTGGGGTGGTGGGGAGCTCAGGTCTGGGGAAATGTGCCAGCAGAGGCGGAGCAACTATCCTGCTTCTGCTCGGGCCCCTCATGAGACGGGGCAGAGGCCACCAGGTGGGTCCTGCCTCACATCACATCCTTGTGCTCCTGCTTGGACTCCTTAATGACCTGCAGGGGACAGGGAACGTGCACAGTGCAACAGTTAGGAGTTCACACAGACCCCAGGTCCACCACCACGAGGCTGTGTAACCTTGGGAAGTCCCCGACTTCCCAGGTCTTACTTTTCTTGATAGTAACCACAGCTGCCTTGCGTGGTGGACAGAGGGGGTGGTGAGATAACACTGGGAAAGCATTTAGCGTCATGCCTGGCGAGTGGTAAGCTGCTGGAGTAAGATGAGCTCCCACTGTGGTTGGAGTGGCGTGGCGGATACGCCAAATCCCCTCTTCCCATTCCCCTGGTAGTTTCCTTTTACCAAGCTGGAAATGGAAAGCCCTCCCCATCCCCAACTGTGTCTGCTAGAGTTGGAAGTGAAAGCTACTAACTTTAATTCTCTTTCTCTCCCTGGCAAGCAAGGCCCCCGAGTTTGAGGGTGAGAAAGAGAGAGTGTGTATTAGGATCCCATCTAGTGGCTTTGGTACCAAGGCTCCCCTTAGAACAGCCTATGGAGGGACTGAGGAAACGGAATTACATTCAGTTTCCTTGCTCTCCTCCAGAATTCCCTGGGGAGCTACTGGGAGTTGCTGGGAACCTTCTATGTGCCAGCCCCAGGCTTTCCTCCATGGCCTGGCCTTGAGAATCCCTGGGGCCAGCCAGAGCCTGACTGGGCCCAAATCCCTCCTTACCTCTCCATCCCACATCTCCACGGTCTTCACCACGATGTTCCTCTTGAGGTGGCCTTCTGACACAGACTTGGTGTCCAGGCTGGTTTCTGCAGATGTGGGGAGAGGAGGCCTCTCATGGACTTTCAGGGCATGAGCCATCCTCTCCCATGCCCGGCTTCCCCATCGCACCCCCCTCCCCATCATGAGTATGAGAACCTATGCAACCGAGCAGAGAGAGCCTAGGCTCTTCCAAACGGGCTGGAGAGCCCCCAAATCCCAATAGTGCTGCTGCCAGAGTCCTGGCTGCTCTGTCTTCTGGCCTGGCTTCATTTCAGCCCCTCTGCAAGCCCTGGCCTGGCACCTGGCTTTCTGAAAACCCAGCACGGTATTGAAATCAGGAGACCAGGAGGGGTGCGGTGGCTCACACCTATAATGCCATCATTTTGGGAGGCTGAGGCAGGTGGATCACCTGACGCCAGGAGTTCGAGACCAGCCTGGCCAACATAGTGAAACCTCTACTAAAAATACAAAAAATAGGCCAGGCATGGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCCGAGGCAGGTGGATCGCCTGAGGTCAGGAGTTTGAGACCAGCCTGACTAATATGGTGAAACCCTGTCTCTACTAAAAATACAAAAATTAGTCAGGCATGGTGACAGGTGCCTGTAGTCCCAGCTACTCAGGAGGCTGAGAGAGGAGAATCACTTGAACCTGGGAGGCGGAGGTTGCAGTAAGCTGCGATCGTGCCACTGCACTCCAGCCTGAGCAACAGAGTAAGACTCCGTCGAAAGCAGGCAAGCAAGCAAGCAAGCAAGCAGGAAAGAGAAAGGAAGGAAGGAAGGAAGGAAGGAAGAAAGAAAGAAAGAAAGAAAAAGAAAGATTAGCCAGGTGTGGTGGCTCGCACCTGTAATCCCCTTACTCGGGAGTCTGAGGCACGAGAATTGCTTGAACCTGGGAGGTGGAGGTTGCAGTGAGCCAAGATTGCACTACTGCATTCCAGCCTGAGTGACAGAGGGACGCTCTGCCGAAGGAAGGAAGGAAAGAAGGAAGGAAGGAAGAAAAGAAGGAAGGAAGGAAGGAAGGATCAGGAGACCAGAGCTCAAGAAGTCCCAACTTAGCCACCAACCAGCCACATGACTCTGGGCAAGTTAATTGACCTCTCCCAGCCTCAGTTTCCTCATCTGTAAAATAAGGATGATGGGGCCTACTTCTCTAGGTGGGAGAGAGGAGACAATTAACTAAAATAAAGGCTGTTAAACATGTGGCACATATTAGTGCTCAATACACATAGGTCCCTTTCCTGTCCCCTTTCCTCTTTCCTACTTCTCTCTGCCATTTATCTGTGCTTTAGTGACCTGTGACTATCTAGGATTTGGCAGTATTACCTCTACTAGTCAGCCTGGTTAGCCTTTCTGATGCTGAATTAAGTCCTGAGACATGCATATCTAGTGGTCCTAAATATTCTAGTCCAGAAGAAGAGGAATTTTGTTCCTTAGCTAAGAATCATTTCAGGGCCAATGCAAGTAAAAAGTAATTTAGCTCCCCCCTCCCCCCGCCCCGCCCGAGAGAGAAAAATATAACACGTCACATTCACTAATATTTAACATTAAGAGCAGGGAACATAAAACTTTATTCACTGCAAGAGCTGCGGTCCTGAGGGAAGAATCCTCTGAACTGAGTCAGCACTGAGCTGAGCGATGGAGCCTCAGGGATGAAAGAATAAAGCAGAGAGCCTGGCGTCCAGGCACAGCGAGACCCAAGGGGCCCTCCCAGTGACAGGAAGAGGTGAGACAGAGGCTGCTGCTTGCTCAGAGGCCCCAGAGCAGCTCCACTGCGCACCCAAGGACTCACCACCTTTACCACTAACAAGCTCTGCCAGTTTAATGTACAGTTACTCTGTACCACGTCCTGGGCTGGGCACTGCAGTTCCTGGGAAAATGACGCAGTCCAGGCCCTTTAGGGGAAGCCTGGGAAGAGGGAACTCAGGGGGATTGGGAGGATGGGGTGGGTGAGGCTCACTCCCTGTCAAGCTGGGCAAAGCGCCGTGTCT
Task1_train_24752
A variant found in Chromosome 17 affects GFAP (glial fibrillary acidic protein). Please analyze its biological impact: is it benign or pathogenic, and what condition might it cause?
Pathogenic; Alexander disease
TATGGGGTGGAGAGGGTCAGACGTGTGGCAGTGGCTTACTGGGGTTAAGAAGCAGCAGTCCCAGGGGCTCAGAGGCTGGGGCGGCCTGGTATGACACAGCAAGGAAGAGGCCTTTAGAAATGGGACAAAGTCATGCCCTGCCCCCATGGATACATCCCCTTTCTCTCCTGTTTCAGCATCTTCAAGAGGATGAGTCACTTCCTTAATTCCCACAATCCAGAGGCCAAGTGCAACTGGTCACCCACAACCCCTACTTGTATGCCTAGCGCCATCCCAATTGCCTCCTCCTCCATCTCTACCAGCGTCCCCTCCAGTCTGCACGGGGCAGTCCTCCTGGGCTTGACCTCTCTGTACCCACAGCTGGGGGCCAGGCAGCCCCCCTCTATCCCTCCCAGCACCTCATCCCTCTCCACGTACACAACAGATCCCCCAAGTGCTGAGAATCAAGCTCCCACCTGCCCACAGCGTGCCCACAGATGGCATCCCTGGATGGCAGCTCAGGTGGACTGAGACACTTGAGTCATCGCTCAGGAGGTCCTTCTGGGATCTGGGCAGGTGACTGCCCCAGGTGGCAGGACGTCCCCACCCATCTTAGACTGATCAGGGTCAGTCTAGGAGAACAACCCTCTGAGCTGGGCATGGTGGCTCCAATCTATAATCCCAGCTACACAGGAGGCTGAGGTGGGTAGACTGCTTGAGCCCAGGAGTTCAAGGTCAGCCTAGGCAGCATAGGGATATCCCACCTCATAAAAACCAAAAGACAAAACAAGCCTCTGGCCAGGGCTACCTTGTCTGTGGGGCCTTCCCTTTCCTGTCTGAGTCTCAGTTTTCCTCCAGCAGCCTGAGGAAACTCAAAGGCACAGTTCCCAGATACTCCGAGAGAACCTCCATCTCTGGCAACAGTTTCCATAACAACAGGAATCAGGGATGTGGAGGGCGATGTAGTAGGTGCCCCCCGCCCTCCTCCCCTTCTCTCCTTCCTCCTCATTCTAACGCAAGCTGCTGGCCATGCCCCTCCAGACTGCCCCTTGGGGGTGAGTTTCTTGTTAGTTGGAGTTGCTGGGTGCTGGGTGGGTGCCGTCTGGCAGGCCTGATACTGACGGAGCCTAGGGCAGCAAGCTGACCTAGGGACAGAGGAGGGAGGGGAGCAGCTGGGGTGGTGGGGAGCTCAGGTCTGGGGAAATGTGCCAGCAGAGGCGGAGCAACTATCCTGCTTCTGCTCGGGCCCCTCATGAGACGGGGCAGAGGCCACCAGGTGGGTCCTGCCTCACATCACATCCTTGTGCTCCTGCTTGGACTCCTTAATGACCTGCAGGGGACAGGGAACGTGCACAGTGCAACAGTTAGGAGTTCACACAGACCCCAGGTCCACCACCACGAGGCTGTGTAACCTTGGGAAGTCCCCGACTTCCCAGGTCTTACTTTTCTTGATAGTAACCACAGCTGCCTTGCGTGGTGGACAGAGGGGGTGGTGAGATAACACTGGGAAAGCATTTAGCGTCATGCCTGGCGAGTGGTAAGCTGCTGGAGTAAGATGAGCTCCCACTGTGGTTGGAGTGGCGTGGCGGATACGCCAAATCCCCTCTTCCCATTCCCCTGGTAGTTTCCTTTTACCAAGCTGGAAATGGAAAGCCCTCCCCATCCCCAACTGTGTCTGCTAGAGTTGGAAGTGAAAGCTACTAACTTTAATTCTCTTTCTCTCCCTGGCAAGCAAGGCCCCCGAGTTTGAGGGTGAGAAAGAGAGAGTGTGTATTAGGATCCCATCTAGTGGCTTTGGTACCAAGGCTCCCCTTAGAACAGCCTATGGAGGGACTGAGGAAACGGAATTACATTCAGTTTCCTTGCTCTCCTCCAGAATTCCCTGGGGAGCTACTGGGAGTTGCTGGGAACCTTCTATGTGCCAGCCCCAGGCTTTCCTCCATGGCCTGGCCTTGAGAATCCCTGGGGCCAGCCAGAGCCTGACTGGGCCCAAATCCCTCCTTACCTCTCCATCCCGCATCTCCACGGTCTTCACCACGATGTTCCTCTTGAGGTGGCCTTCTGACACAGACTTGGTGTCCAGGCTGGTTTCTGCAGATGTGGGGAGAGGAGGCCTCTCATGGACTTTCAGGGCATGAGCCATCCTCTCCCATGCCCGGCTTCCCCATCGCACCCCCCTCCCCATCATGAGTATGAGAACCTATGCAACCGAGCAGAGAGAGCCTAGGCTCTTCCAAACGGGCTGGAGAGCCCCCAAATCCCAATAGTGCTGCTGCCAGAGTCCTGGCTGCTCTGTCTTCTGGCCTGGCTTCATTTCAGCCCCTCTGCAAGCCCTGGCCTGGCACCTGGCTTTCTGAAAACCCAGCACGGTATTGAAATCAGGAGACCAGGAGGGGTGCGGTGGCTCACACCTATAATGCCATCATTTTGGGAGGCTGAGGCAGGTGGATCACCTGACGCCAGGAGTTCGAGACCAGCCTGGCCAACATAGTGAAACCTCTACTAAAAATACAAAAAATAGGCCAGGCATGGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCCGAGGCAGGTGGATCGCCTGAGGTCAGGAGTTTGAGACCAGCCTGACTAATATGGTGAAACCCTGTCTCTACTAAAAATACAAAAATTAGTCAGGCATGGTGACAGGTGCCTGTAGTCCCAGCTACTCAGGAGGCTGAGAGAGGAGAATCACTTGAACCTGGGAGGCGGAGGTTGCAGTAAGCTGCGATCGTGCCACTGCACTCCAGCCTGAGCAACAGAGTAAGACTCCGTCGAAAGCAGGCAAGCAAGCAAGCAAGCAAGCAGGAAAGAGAAAGGAAGGAAGGAAGGAAGGAAGGAAGAAAGAAAGAAAGAAAGAAAAAGAAAGATTAGCCAGGTGTGGTGGCTCGCACCTGTAATCCCCTTACTCGGGAGTCTGAGGCACGAGAATTGCTTGAACCTGGGAGGTGGAGGTTGCAGTGAGCCAAGATTGCACTACTGCATTCCAGCCTGAGTGACAGAGGGACGCTCTGCCGAAGGAAGGAAGGAAAGAAGGAAGGAAGGAAGAAAAGAAGGAAGGAAGGAAGGAAGGATCAGGAGACCAGAGCTCAAGAAGTCCCAACTTAGCCACCAACCAGCCACATGACTCTGGGCAAGTTAATTGACCTCTCCCAGCCTCAGTTTCCTCATCTGTAAAATAAGGATGATGGGGCCTACTTCTCTAGGTGGGAGAGAGGAGACAATTAACTAAAATAAAGGCTGTTAAACATGTGGCACATATTAGTGCTCAATACACATAGGTCCCTTTCCTGTCCCCTTTCCTCTTTCCTACTTCTCTCTGCCATTTATCTGTGCTTTAGTGACCTGTGACTATCTAGGATTTGGCAGTATTACCTCTACTAGTCAGCCTGGTTAGCCTTTCTGATGCTGAATTAAGTCCTGAGACATGCATATCTAGTGGTCCTAAATATTCTAGTCCAGAAGAAGAGGAATTTTGTTCCTTAGCTAAGAATCATTTCAGGGCCAATGCAAGTAAAAAGTAATTTAGCTCCCCCCTCCCCCCGCCCCGCCCGAGAGAGAAAAATATAACACGTCACATTCACTAATATTTAACATTAAGAGCAGGGAACATAAAACTTTATTCACTGCAAGAGCTGCGGTCCTGAGGGAAGAATCCTCTGAACTGAGTCAGCACTGAGCTGAGCGATGGAGCCTCAGGGATGAAAGAATAAAGCAGAGAGCCTGGCGTCCAGGCACAGCGAGACCCAAGGGGCCCTCCCAGTGACAGGAAGAGGTGAGACAGAGGCTGCTGCTTGCTCAGAGGCCCCAGAGCAGCTCCACTGCGCACCCAAGGACTCACCACCTTTACCACTAACAAGCTCTGCCAGTTTAATGTACAGTTACTCTGTACCACGTCCTGGGCTGGGCACTGCAGTTCCTGGGAAAATGACGCAGTCCAGGCCCTTTAGGGGAAGCCTGGGAAGAGGGAACTCAGGGGGATTGGGAGGATGGGGTGGGTGAGGCTCACTCCCTGTCAAGCTGGGCAAAGCGCCGTGTCTGAGAGGCAGGCAGCTAACCGCGAGCCGGCGGCGTTCCATTTACAATCTGGTGA
TATGGGGTGGAGAGGGTCAGACGTGTGGCAGTGGCTTACTGGGGTTAAGAAGCAGCAGTCCCAGGGGCTCAGAGGCTGGGGCGGCCTGGTATGACACAGCAAGGAAGAGGCCTTTAGAAATGGGACAAAGTCATGCCCTGCCCCCATGGATACATCCCCTTTCTCTCCTGTTTCAGCATCTTCAAGAGGATGAGTCACTTCCTTAATTCCCACAATCCAGAGGCCAAGTGCAACTGGTCACCCACAACCCCTACTTGTATGCCTAGCGCCATCCCAATTGCCTCCTCCTCCATCTCTACCAGCGTCCCCTCCAGTCTGCACGGGGCAGTCCTCCTGGGCTTGACCTCTCTGTACCCACAGCTGGGGGCCAGGCAGCCCCCCTCTATCCCTCCCAGCACCTCATCCCTCTCCACGTACACAACAGATCCCCCAAGTGCTGAGAATCAAGCTCCCACCTGCCCACAGCGTGCCCACAGATGGCATCCCTGGATGGCAGCTCAGGTGGACTGAGACACTTGAGTCATCGCTCAGGAGGTCCTTCTGGGATCTGGGCAGGTGACTGCCCCAGGTGGCAGGACGTCCCCACCCATCTTAGACTGATCAGGGTCAGTCTAGGAGAACAACCCTCTGAGCTGGGCATGGTGGCTCCAATCTATAATCCCAGCTACACAGGAGGCTGAGGTGGGTAGACTGCTTGAGCCCAGGAGTTCAAGGTCAGCCTAGGCAGCATAGGGATATCCCACCTCATAAAAACCAAAAGACAAAACAAGCCTCTGGCCAGGGCTACCTTGTCTGTGGGGCCTTCCCTTTCCTGTCTGAGTCTCAGTTTTCCTCCAGCAGCCTGAGGAAACTCAAAGGCACAGTTCCCAGATACTCCGAGAGAACCTCCATCTCTGGCAACAGTTTCCATAACAACAGGAATCAGGGATGTGGAGGGCGATGTAGTAGGTGCCCCCCGCCCTCCTCCCCTTCTCTCCTTCCTCCTCATTCTAACGCAAGCTGCTGGCCATGCCCCTCCAGACTGCCCCTTGGGGGTGAGTTTCTTGTTAGTTGGAGTTGCTGGGTGCTGGGTGGGTGCCGTCTGGCAGGCCTGATACTGACGGAGCCTAGGGCAGCAAGCTGACCTAGGGACAGAGGAGGGAGGGGAGCAGCTGGGGTGGTGGGGAGCTCAGGTCTGGGGAAATGTGCCAGCAGAGGCGGAGCAACTATCCTGCTTCTGCTCGGGCCCCTCATGAGACGGGGCAGAGGCCACCAGGTGGGTCCTGCCTCACATCACATCCTTGTGCTCCTGCTTGGACTCCTTAATGACCTGCAGGGGACAGGGAACGTGCACAGTGCAACAGTTAGGAGTTCACACAGACCCCAGGTCCACCACCACGAGGCTGTGTAACCTTGGGAAGTCCCCGACTTCCCAGGTCTTACTTTTCTTGATAGTAACCACAGCTGCCTTGCGTGGTGGACAGAGGGGGTGGTGAGATAACACTGGGAAAGCATTTAGCGTCATGCCTGGCGAGTGGTAAGCTGCTGGAGTAAGATGAGCTCCCACTGTGGTTGGAGTGGCGTGGCGGATACGCCAAATCCCCTCTTCCCATTCCCCTGGTAGTTTCCTTTTACCAAGCTGGAAATGGAAAGCCCTCCCCATCCCCAACTGTGTCTGCTAGAGTTGGAAGTGAAAGCTACTAACTTTAATTCTCTTTCTCTCCCTGGCAAGCAAGGCCCCCGAGTTTGAGGGTGAGAAAGAGAGAGTGTGTATTAGGATCCCATCTAGTGGCTTTGGTACCAAGGCTCCCCTTAGAACAGCCTATGGAGGGACTGAGGAAACGGAATTACATTCAGTTTCCTTGCTCTCCTCCAGAATTCCCTGGGGAGCTACTGGGAGTTGCTGGGAACCTTCTATGTGCCAGCCCCAGGCTTTCCTCCATGGCCTGGCCTTGAGAATCCCTGGGGCCAGCCAGAGCCTGACTGGGCCCAAATCCCTCCTTACCTCTCCATCCCGCATCTCCACGGTCTTCACCACGATGTTCCTCTTGAGGTGGCCTTCTGACACAAACTTGGTGTCCAGGCTGGTTTCTGCAGATGTGGGGAGAGGAGGCCTCTCATGGACTTTCAGGGCATGAGCCATCCTCTCCCATGCCCGGCTTCCCCATCGCACCCCCCTCCCCATCATGAGTATGAGAACCTATGCAACCGAGCAGAGAGAGCCTAGGCTCTTCCAAACGGGCTGGAGAGCCCCCAAATCCCAATAGTGCTGCTGCCAGAGTCCTGGCTGCTCTGTCTTCTGGCCTGGCTTCATTTCAGCCCCTCTGCAAGCCCTGGCCTGGCACCTGGCTTTCTGAAAACCCAGCACGGTATTGAAATCAGGAGACCAGGAGGGGTGCGGTGGCTCACACCTATAATGCCATCATTTTGGGAGGCTGAGGCAGGTGGATCACCTGACGCCAGGAGTTCGAGACCAGCCTGGCCAACATAGTGAAACCTCTACTAAAAATACAAAAAATAGGCCAGGCATGGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCCGAGGCAGGTGGATCGCCTGAGGTCAGGAGTTTGAGACCAGCCTGACTAATATGGTGAAACCCTGTCTCTACTAAAAATACAAAAATTAGTCAGGCATGGTGACAGGTGCCTGTAGTCCCAGCTACTCAGGAGGCTGAGAGAGGAGAATCACTTGAACCTGGGAGGCGGAGGTTGCAGTAAGCTGCGATCGTGCCACTGCACTCCAGCCTGAGCAACAGAGTAAGACTCCGTCGAAAGCAGGCAAGCAAGCAAGCAAGCAAGCAGGAAAGAGAAAGGAAGGAAGGAAGGAAGGAAGGAAGAAAGAAAGAAAGAAAGAAAAAGAAAGATTAGCCAGGTGTGGTGGCTCGCACCTGTAATCCCCTTACTCGGGAGTCTGAGGCACGAGAATTGCTTGAACCTGGGAGGTGGAGGTTGCAGTGAGCCAAGATTGCACTACTGCATTCCAGCCTGAGTGACAGAGGGACGCTCTGCCGAAGGAAGGAAGGAAAGAAGGAAGGAAGGAAGAAAAGAAGGAAGGAAGGAAGGAAGGATCAGGAGACCAGAGCTCAAGAAGTCCCAACTTAGCCACCAACCAGCCACATGACTCTGGGCAAGTTAATTGACCTCTCCCAGCCTCAGTTTCCTCATCTGTAAAATAAGGATGATGGGGCCTACTTCTCTAGGTGGGAGAGAGGAGACAATTAACTAAAATAAAGGCTGTTAAACATGTGGCACATATTAGTGCTCAATACACATAGGTCCCTTTCCTGTCCCCTTTCCTCTTTCCTACTTCTCTCTGCCATTTATCTGTGCTTTAGTGACCTGTGACTATCTAGGATTTGGCAGTATTACCTCTACTAGTCAGCCTGGTTAGCCTTTCTGATGCTGAATTAAGTCCTGAGACATGCATATCTAGTGGTCCTAAATATTCTAGTCCAGAAGAAGAGGAATTTTGTTCCTTAGCTAAGAATCATTTCAGGGCCAATGCAAGTAAAAAGTAATTTAGCTCCCCCCTCCCCCCGCCCCGCCCGAGAGAGAAAAATATAACACGTCACATTCACTAATATTTAACATTAAGAGCAGGGAACATAAAACTTTATTCACTGCAAGAGCTGCGGTCCTGAGGGAAGAATCCTCTGAACTGAGTCAGCACTGAGCTGAGCGATGGAGCCTCAGGGATGAAAGAATAAAGCAGAGAGCCTGGCGTCCAGGCACAGCGAGACCCAAGGGGCCCTCCCAGTGACAGGAAGAGGTGAGACAGAGGCTGCTGCTTGCTCAGAGGCCCCAGAGCAGCTCCACTGCGCACCCAAGGACTCACCACCTTTACCACTAACAAGCTCTGCCAGTTTAATGTACAGTTACTCTGTACCACGTCCTGGGCTGGGCACTGCAGTTCCTGGGAAAATGACGCAGTCCAGGCCCTTTAGGGGAAGCCTGGGAAGAGGGAACTCAGGGGGATTGGGAGGATGGGGTGGGTGAGGCTCACTCCCTGTCAAGCTGGGCAAAGCGCCGTGTCTGAGAGGCAGGCAGCTAACCGCGAGCCGGCGGCGTTCCATTTACAATCTGGTGA
Task1_train_24753
A mutation on Chromosome 17 affecting GFAP (glial fibrillary acidic protein) has been found. Is it harmful or harmless? What disease, if any, does it cause?
Pathogenic; not provided
CCAGGCATGGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCCGAGGCAGGTGGATCGCCTGAGGTCAGGAGTTTGAGACCAGCCTGACTAATATGGTGAAACCCTGTCTCTACTAAAAATACAAAAATTAGTCAGGCATGGTGACAGGTGCCTGTAGTCCCAGCTACTCAGGAGGCTGAGAGAGGAGAATCACTTGAACCTGGGAGGCGGAGGTTGCAGTAAGCTGCGATCGTGCCACTGCACTCCAGCCTGAGCAACAGAGTAAGACTCCGTCGAAAGCAGGCAAGCAAGCAAGCAAGCAAGCAGGAAAGAGAAAGGAAGGAAGGAAGGAAGGAAGGAAGAAAGAAAGAAAGAAAGAAAAAGAAAGATTAGCCAGGTGTGGTGGCTCGCACCTGTAATCCCCTTACTCGGGAGTCTGAGGCACGAGAATTGCTTGAACCTGGGAGGTGGAGGTTGCAGTGAGCCAAGATTGCACTACTGCATTCCAGCCTGAGTGACAGAGGGACGCTCTGCCGAAGGAAGGAAGGAAAGAAGGAAGGAAGGAAGAAAAGAAGGAAGGAAGGAAGGAAGGATCAGGAGACCAGAGCTCAAGAAGTCCCAACTTAGCCACCAACCAGCCACATGACTCTGGGCAAGTTAATTGACCTCTCCCAGCCTCAGTTTCCTCATCTGTAAAATAAGGATGATGGGGCCTACTTCTCTAGGTGGGAGAGAGGAGACAATTAACTAAAATAAAGGCTGTTAAACATGTGGCACATATTAGTGCTCAATACACATAGGTCCCTTTCCTGTCCCCTTTCCTCTTTCCTACTTCTCTCTGCCATTTATCTGTGCTTTAGTGACCTGTGACTATCTAGGATTTGGCAGTATTACCTCTACTAGTCAGCCTGGTTAGCCTTTCTGATGCTGAATTAAGTCCTGAGACATGCATATCTAGTGGTCCTAAATATTCTAGTCCAGAAGAAGAGGAATTTTGTTCCTTAGCTAAGAATCATTTCAGGGCCAATGCAAGTAAAAAGTAATTTAGCTCCCCCCTCCCCCCGCCCCGCCCGAGAGAGAAAAATATAACACGTCACATTCACTAATATTTAACATTAAGAGCAGGGAACATAAAACTTTATTCACTGCAAGAGCTGCGGTCCTGAGGGAAGAATCCTCTGAACTGAGTCAGCACTGAGCTGAGCGATGGAGCCTCAGGGATGAAAGAATAAAGCAGAGAGCCTGGCGTCCAGGCACAGCGAGACCCAAGGGGCCCTCCCAGTGACAGGAAGAGGTGAGACAGAGGCTGCTGCTTGCTCAGAGGCCCCAGAGCAGCTCCACTGCGCACCCAAGGACTCACCACCTTTACCACTAACAAGCTCTGCCAGTTTAATGTACAGTTACTCTGTACCACGTCCTGGGCTGGGCACTGCAGTTCCTGGGAAAATGACGCAGTCCAGGCCCTTTAGGGGAAGCCTGGGAAGAGGGAACTCAGGGGGATTGGGAGGATGGGGTGGGTGAGGCTCACTCCCTGTCAAGCTGGGCAAAGCGCCGTGTCTGAGAGGCAGGCAGCTAACCGCGAGCCGGCGGCGTTCCATTTACAATCTGGTGAGCCTGTATTGGTATAACTCGTATTGTGAGGCTTTTGAGATATCTTGTGACCTTGTGATTTTCCCCGTCTTTGGTGCTTTTGCCCCCTGTAGTGACAAGCAGTTAAAAAAACAAAAACAGAAAACACTCAGAAGGGCAGTGCTTGCTCAGGGATCTGCAGACAGGGCAGATGTCAAGCTCTCACCCAGTTCTGCTGTCGAATGGGGTGCAGGGAGGGGAAGAGGGACCAGGGCCTAGCAGGACAGGGGCAGCTGCAAGCCCCACCTAGAAGTACCCTGGTATGATAGGCTCTGGCTAGGAGCGCTGCAGTGTCACGAAGGCCCCCAGGGAGAGCTGGATCCCTTTGCCCTGATCCTCAGTCCCAGTCTGGAGCAACCTACAGGCCCTGGAGGAGGGGGCAGGACTCCAGTGCCCTTCCCACGAGGCCCTGCTGTACTGACCTCGAATCTGCAGGTTGGAGAAGGTCTGCACGGGAATGGTGATCCTGAAAGAAAGCAGAGGGAGAGGGCTGCCCGGGCTGCCTGGGACACCCCTAGGCTGGGTCTTGGTGCGGGGCCATCATGACAACTTGAACGCCCTTTTCCTTGCCAGGAAAGTCTAACTCCATCTCCTAGCTTTTTCCCCAGCAGCCAACGTGCTATCTGGAGTTCCAAACGTCTGCAAGGGGCTTGAGTGTTATCTGGGAGGGGCGCATGTCTATCTGAAGGAAGATGGAAAAGGGAGGGGAAAGTGGTGAAGAAAGTTCCAAGGAGGCAGAAGAGATGGGTGAGGTGAGGAGTCCAATCTTGGCTGGGAAGATGGGGAGTATGCCTCTTAGTTTGGAGGGTGACCCAAGTCCTTGGCCTTGAGGCCTAATCAATATTGGTTGAATCCATCCATCCATTCAGTCATCAAACATCTAGTGACTGCCTGCTATGTGTGAGGCAGGCACTGTGCTGGGCATTGAGGTGGGAAGGGATCTGCACACAAGGCTGAAAAAGACTCAGTCCCTGAAGGGAGCAAGATGAGCTCTACCGTGAGGCAGCAGGGAGACTTCCCCAGGGGCTGTGATGAGGGCTCACCGGTTCTCCTCGCCCTCTAGCAGCTTCCTGTAGGTGGCGATCTCGATGTCCAGGGCCAGCTTGACATTGAGCAGGTCCTGGTACTCCTGCAAGTGGCGGGCCATCTCGTCCTTGAGGCTCTGCCCCTCTTCCTCCAGCCGCGCCAGCGCCTCCTGATAACTGGCCGCCTCCCGCACGTGCCGCTCCTCCTGCTCGCGCATCTGCCTCTCCAGGGACTCGTTCTGTGGGATGGAGCCGGCCGGTCCCGCGGAGCCCCGACCCGACTTGGGGAGGTTTCGAGGCCCGGCCCCCGGCCCCAGGCCCCGCCTCTAGCCCGGGGGTAACGTTCAGGCCCCGCCCTCGACCCAGGTCCTCGTCCCTGGCCCTTCTCCCCTGGCATCTCCTGGGGTGGCCGTCCCTGCTCCGCCCGTCCCCGTCCTGCCCTGGCCGCGCTCACCGTGCCGCGCAGAGACTCCAGGTCGCAGGTCAAGGACTGCAACTGGCGCCGGTAGTCGTTGGCTTCGTGCTTGGCCTGGCGGAGCAGCTCCGCGTTGCGGGCAGCAGCGTCTGTCAGGTCTGCAAACTAGGTGGGGGACACATATGGGGGGCTGTGTGGGCCCATGGGCAGGCACGGGCTCTGGGAAATCAGGGAGGTGAGCAGCACCCCAGTTAACCCCAGGACGTTGGCCCTGGCTGGGACTTTTCCCAACAACTGTGACCCATGGATGCGGGCAGGGTAGCGGGCTGCCAGACCTCAGCACCTAGCACAACACCTGGTCAGCAAGCGAATGAATGAACAGTGCCACAGAATCCAGAACCTTCCACACTGACAGCTGCATCTGCGGGACTGAACGCTGTCGTCTTAGGCGAGCGGAGGCCTGGGTGTTTTGTGTGTTTTTGTTTTTTTGTTTTTTTTGTTTTATTTTGAGACAGAGTCTTGCTCTTGTCGCCCAGGTTGGAAGTCAGTGGCACAATCCCGGGTCACTGCAACCTCTGCCTCCCAGGTTCAAGCAATTCTCCTGCCCCAGCCACCTGAGTAGCTGGGATTACAGGCATGCGCCACTACACCCGGCTGATTTTGTATTTTTAGTAGAGACGGGGTTTCACCATGTTGACCAGGCTAGTCTTGAACTGCTGACCTCAGGTGATCCGCATGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACCTCGCCTGGCCTCACCCTGGGTTCTAATAGCCCTTTCTCCCCTGCCTGCAGGGAGGTCCTCCCAGCCCCATCGGGCCCTCACCCTGCTCAGACACCAGTGGCTTCTGCCACTCACACTCCTCAGCTAGGTGCCCTGGCTAGGCTAGCATCTTGGGGCCCTGCCTCTCTGTGCTTTTCTGCCTCCAGGCTCTGTCCTCCACTAGGAATGGCCCTCCCTTCTTCTCTTCCTGTCCACAGCGTGCCTGTCCTGCCTAGCCCAAATGCC
CCAGGCATGGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCCGAGGCAGGTGGATCGCCTGAGGTCAGGAGTTTGAGACCAGCCTGACTAATATGGTGAAACCCTGTCTCTACTAAAAATACAAAAATTAGTCAGGCATGGTGACAGGTGCCTGTAGTCCCAGCTACTCAGGAGGCTGAGAGAGGAGAATCACTTGAACCTGGGAGGCGGAGGTTGCAGTAAGCTGCGATCGTGCCACTGCACTCCAGCCTGAGCAACAGAGTAAGACTCCGTCGAAAGCAGGCAAGCAAGCAAGCAAGCAAGCAGGAAAGAGAAAGGAAGGAAGGAAGGAAGGAAGGAAGAAAGAAAGAAAGAAAGAAAAAGAAAGATTAGCCAGGTGTGGTGGCTCGCACCTGTAATCCCCTTACTCGGGAGTCTGAGGCACGAGAATTGCTTGAACCTGGGAGGTGGAGGTTGCAGTGAGCCAAGATTGCACTACTGCATTCCAGCCTGAGTGACAGAGGGACGCTCTGCCGAAGGAAGGAAGGAAAGAAGGAAGGAAGGAAGAAAAGAAGGAAGGAAGGAAGGAAGGATCAGGAGACCAGAGCTCAAGAAGTCCCAACTTAGCCACCAACCAGCCACATGACTCTGGGCAAGTTAATTGACCTCTCCCAGCCTCAGTTTCCTCATCTGTAAAATAAGGATGATGGGGCCTACTTCTCTAGGTGGGAGAGAGGAGACAATTAACTAAAATAAAGGCTGTTAAACATGTGGCACATATTAGTGCTCAATACACATAGGTCCCTTTCCTGTCCCCTTTCCTCTTTCCTACTTCTCTCTGCCATTTATCTGTGCTTTAGTGACCTGTGACTATCTAGGATTTGGCAGTATTACCTCTACTAGTCAGCCTGGTTAGCCTTTCTGATGCTGAATTAAGTCCTGAGACATGCATATCTAGTGGTCCTAAATATTCTAGTCCAGAAGAAGAGGAATTTTGTTCCTTAGCTAAGAATCATTTCAGGGCCAATGCAAGTAAAAAGTAATTTAGCTCCCCCCTCCCCCCGCCCCGCCCGAGAGAGAAAAATATAACACGTCACATTCACTAATATTTAACATTAAGAGCAGGGAACATAAAACTTTATTCACTGCAAGAGCTGCGGTCCTGAGGGAAGAATCCTCTGAACTGAGTCAGCACTGAGCTGAGCGATGGAGCCTCAGGGATGAAAGAATAAAGCAGAGAGCCTGGCGTCCAGGCACAGCGAGACCCAAGGGGCCCTCCCAGTGACAGGAAGAGGTGAGACAGAGGCTGCTGCTTGCTCAGAGGCCCCAGAGCAGCTCCACTGCGCACCCAAGGACTCACCACCTTTACCACTAACAAGCTCTGCCAGTTTAATGTACAGTTACTCTGTACCACGTCCTGGGCTGGGCACTGCAGTTCCTGGGAAAATGACGCAGTCCAGGCCCTTTAGGGGAAGCCTGGGAAGAGGGAACTCAGGGGGATTGGGAGGATGGGGTGGGTGAGGCTCACTCCCTGTCAAGCTGGGCAAAGCGCCGTGTCTGAGAGGCAGGCAGCTAACCGCGAGCCGGCGGCGTTCCATTTACAATCTGGTGAGCCTGTATTGGTATAACTCGTATTGTGAGGCTTTTGAGATATCTTGTGACCTTGTGATTTTCCCCGTCTTTGGTGCTTTTGCCCCCTGTAGTGACAAGCAGTTAAAAAAACAAAAACAGAAAACACTCAGAAGGGCAGTGCTTGCTCAGGGATCTGCAGACAGGGCAGATGTCAAGCTCTCACCCAGTTCTGCTGTCGAATGGGGTGCAGGGAGGGGAAGAGGGACCAGGGCCTAGCAGGACAGGGGCAGCTGCAAGCCCCACCTAGAAGTACCCTGGTATGATAGGCTCTGGCTAGGAGCGCTGCAGTGTCACGAAGGCCCCCAGGGAGAGCTGGATCCCTTTGCCCTGATCCTCAGTCCCAGTCTGGAGCAACCTACAGGCCCTGGAGGAGGGGGCAGGACTCCAGTGCCCTTCCCACGAGGCCCTGCTGTACTGACCTCGAATCTGCAGGATGGAGAAGGTCTGCACGGGAATGGTGATCCTGAAAGAAAGCAGAGGGAGAGGGCTGCCCGGGCTGCCTGGGACACCCCTAGGCTGGGTCTTGGTGCGGGGCCATCATGACAACTTGAACGCCCTTTTCCTTGCCAGGAAAGTCTAACTCCATCTCCTAGCTTTTTCCCCAGCAGCCAACGTGCTATCTGGAGTTCCAAACGTCTGCAAGGGGCTTGAGTGTTATCTGGGAGGGGCGCATGTCTATCTGAAGGAAGATGGAAAAGGGAGGGGAAAGTGGTGAAGAAAGTTCCAAGGAGGCAGAAGAGATGGGTGAGGTGAGGAGTCCAATCTTGGCTGGGAAGATGGGGAGTATGCCTCTTAGTTTGGAGGGTGACCCAAGTCCTTGGCCTTGAGGCCTAATCAATATTGGTTGAATCCATCCATCCATTCAGTCATCAAACATCTAGTGACTGCCTGCTATGTGTGAGGCAGGCACTGTGCTGGGCATTGAGGTGGGAAGGGATCTGCACACAAGGCTGAAAAAGACTCAGTCCCTGAAGGGAGCAAGATGAGCTCTACCGTGAGGCAGCAGGGAGACTTCCCCAGGGGCTGTGATGAGGGCTCACCGGTTCTCCTCGCCCTCTAGCAGCTTCCTGTAGGTGGCGATCTCGATGTCCAGGGCCAGCTTGACATTGAGCAGGTCCTGGTACTCCTGCAAGTGGCGGGCCATCTCGTCCTTGAGGCTCTGCCCCTCTTCCTCCAGCCGCGCCAGCGCCTCCTGATAACTGGCCGCCTCCCGCACGTGCCGCTCCTCCTGCTCGCGCATCTGCCTCTCCAGGGACTCGTTCTGTGGGATGGAGCCGGCCGGTCCCGCGGAGCCCCGACCCGACTTGGGGAGGTTTCGAGGCCCGGCCCCCGGCCCCAGGCCCCGCCTCTAGCCCGGGGGTAACGTTCAGGCCCCGCCCTCGACCCAGGTCCTCGTCCCTGGCCCTTCTCCCCTGGCATCTCCTGGGGTGGCCGTCCCTGCTCCGCCCGTCCCCGTCCTGCCCTGGCCGCGCTCACCGTGCCGCGCAGAGACTCCAGGTCGCAGGTCAAGGACTGCAACTGGCGCCGGTAGTCGTTGGCTTCGTGCTTGGCCTGGCGGAGCAGCTCCGCGTTGCGGGCAGCAGCGTCTGTCAGGTCTGCAAACTAGGTGGGGGACACATATGGGGGGCTGTGTGGGCCCATGGGCAGGCACGGGCTCTGGGAAATCAGGGAGGTGAGCAGCACCCCAGTTAACCCCAGGACGTTGGCCCTGGCTGGGACTTTTCCCAACAACTGTGACCCATGGATGCGGGCAGGGTAGCGGGCTGCCAGACCTCAGCACCTAGCACAACACCTGGTCAGCAAGCGAATGAATGAACAGTGCCACAGAATCCAGAACCTTCCACACTGACAGCTGCATCTGCGGGACTGAACGCTGTCGTCTTAGGCGAGCGGAGGCCTGGGTGTTTTGTGTGTTTTTGTTTTTTTGTTTTTTTTGTTTTATTTTGAGACAGAGTCTTGCTCTTGTCGCCCAGGTTGGAAGTCAGTGGCACAATCCCGGGTCACTGCAACCTCTGCCTCCCAGGTTCAAGCAATTCTCCTGCCCCAGCCACCTGAGTAGCTGGGATTACAGGCATGCGCCACTACACCCGGCTGATTTTGTATTTTTAGTAGAGACGGGGTTTCACCATGTTGACCAGGCTAGTCTTGAACTGCTGACCTCAGGTGATCCGCATGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACCTCGCCTGGCCTCACCCTGGGTTCTAATAGCCCTTTCTCCCCTGCCTGCAGGGAGGTCCTCCCAGCCCCATCGGGCCCTCACCCTGCTCAGACACCAGTGGCTTCTGCCACTCACACTCCTCAGCTAGGTGCCCTGGCTAGGCTAGCATCTTGGGGCCCTGCCTCTCTGTGCTTTTCTGCCTCCAGGCTCTGTCCTCCACTAGGAATGGCCCTCCCTTCTTCTCTTCCTGTCCACAGCGTGCCTGTCCTGCCTAGCCCAAATGCC
Task1_train_24754
This variant lies on Chromosome 17 and affects the gene GFAP (glial fibrillary acidic protein). Based on this context, is the mutation pathogenic or benign? If pathogenic, what disease does it cause?
Pathogenic; not provided
CCAGGCATGGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCCGAGGCAGGTGGATCGCCTGAGGTCAGGAGTTTGAGACCAGCCTGACTAATATGGTGAAACCCTGTCTCTACTAAAAATACAAAAATTAGTCAGGCATGGTGACAGGTGCCTGTAGTCCCAGCTACTCAGGAGGCTGAGAGAGGAGAATCACTTGAACCTGGGAGGCGGAGGTTGCAGTAAGCTGCGATCGTGCCACTGCACTCCAGCCTGAGCAACAGAGTAAGACTCCGTCGAAAGCAGGCAAGCAAGCAAGCAAGCAAGCAGGAAAGAGAAAGGAAGGAAGGAAGGAAGGAAGGAAGAAAGAAAGAAAGAAAGAAAAAGAAAGATTAGCCAGGTGTGGTGGCTCGCACCTGTAATCCCCTTACTCGGGAGTCTGAGGCACGAGAATTGCTTGAACCTGGGAGGTGGAGGTTGCAGTGAGCCAAGATTGCACTACTGCATTCCAGCCTGAGTGACAGAGGGACGCTCTGCCGAAGGAAGGAAGGAAAGAAGGAAGGAAGGAAGAAAAGAAGGAAGGAAGGAAGGAAGGATCAGGAGACCAGAGCTCAAGAAGTCCCAACTTAGCCACCAACCAGCCACATGACTCTGGGCAAGTTAATTGACCTCTCCCAGCCTCAGTTTCCTCATCTGTAAAATAAGGATGATGGGGCCTACTTCTCTAGGTGGGAGAGAGGAGACAATTAACTAAAATAAAGGCTGTTAAACATGTGGCACATATTAGTGCTCAATACACATAGGTCCCTTTCCTGTCCCCTTTCCTCTTTCCTACTTCTCTCTGCCATTTATCTGTGCTTTAGTGACCTGTGACTATCTAGGATTTGGCAGTATTACCTCTACTAGTCAGCCTGGTTAGCCTTTCTGATGCTGAATTAAGTCCTGAGACATGCATATCTAGTGGTCCTAAATATTCTAGTCCAGAAGAAGAGGAATTTTGTTCCTTAGCTAAGAATCATTTCAGGGCCAATGCAAGTAAAAAGTAATTTAGCTCCCCCCTCCCCCCGCCCCGCCCGAGAGAGAAAAATATAACACGTCACATTCACTAATATTTAACATTAAGAGCAGGGAACATAAAACTTTATTCACTGCAAGAGCTGCGGTCCTGAGGGAAGAATCCTCTGAACTGAGTCAGCACTGAGCTGAGCGATGGAGCCTCAGGGATGAAAGAATAAAGCAGAGAGCCTGGCGTCCAGGCACAGCGAGACCCAAGGGGCCCTCCCAGTGACAGGAAGAGGTGAGACAGAGGCTGCTGCTTGCTCAGAGGCCCCAGAGCAGCTCCACTGCGCACCCAAGGACTCACCACCTTTACCACTAACAAGCTCTGCCAGTTTAATGTACAGTTACTCTGTACCACGTCCTGGGCTGGGCACTGCAGTTCCTGGGAAAATGACGCAGTCCAGGCCCTTTAGGGGAAGCCTGGGAAGAGGGAACTCAGGGGGATTGGGAGGATGGGGTGGGTGAGGCTCACTCCCTGTCAAGCTGGGCAAAGCGCCGTGTCTGAGAGGCAGGCAGCTAACCGCGAGCCGGCGGCGTTCCATTTACAATCTGGTGAGCCTGTATTGGTATAACTCGTATTGTGAGGCTTTTGAGATATCTTGTGACCTTGTGATTTTCCCCGTCTTTGGTGCTTTTGCCCCCTGTAGTGACAAGCAGTTAAAAAAACAAAAACAGAAAACACTCAGAAGGGCAGTGCTTGCTCAGGGATCTGCAGACAGGGCAGATGTCAAGCTCTCACCCAGTTCTGCTGTCGAATGGGGTGCAGGGAGGGGAAGAGGGACCAGGGCCTAGCAGGACAGGGGCAGCTGCAAGCCCCACCTAGAAGTACCCTGGTATGATAGGCTCTGGCTAGGAGCGCTGCAGTGTCACGAAGGCCCCCAGGGAGAGCTGGATCCCTTTGCCCTGATCCTCAGTCCCAGTCTGGAGCAACCTACAGGCCCTGGAGGAGGGGGCAGGACTCCAGTGCCCTTCCCACGAGGCCCTGCTGTACTGACCTCGAATCTGCAGGTTGGAGAAGGTCTGCACGGGAATGGTGATCCTGAAAGAAAGCAGAGGGAGAGGGCTGCCCGGGCTGCCTGGGACACCCCTAGGCTGGGTCTTGGTGCGGGGCCATCATGACAACTTGAACGCCCTTTTCCTTGCCAGGAAAGTCTAACTCCATCTCCTAGCTTTTTCCCCAGCAGCCAACGTGCTATCTGGAGTTCCAAACGTCTGCAAGGGGCTTGAGTGTTATCTGGGAGGGGCGCATGTCTATCTGAAGGAAGATGGAAAAGGGAGGGGAAAGTGGTGAAGAAAGTTCCAAGGAGGCAGAAGAGATGGGTGAGGTGAGGAGTCCAATCTTGGCTGGGAAGATGGGGAGTATGCCTCTTAGTTTGGAGGGTGACCCAAGTCCTTGGCCTTGAGGCCTAATCAATATTGGTTGAATCCATCCATCCATTCAGTCATCAAACATCTAGTGACTGCCTGCTATGTGTGAGGCAGGCACTGTGCTGGGCATTGAGGTGGGAAGGGATCTGCACACAAGGCTGAAAAAGACTCAGTCCCTGAAGGGAGCAAGATGAGCTCTACCGTGAGGCAGCAGGGAGACTTCCCCAGGGGCTGTGATGAGGGCTCACCGGTTCTCCTCGCCCTCTAGCAGCTTCCTGTAGGTGGCGATCTCGATGTCCAGGGCCAGCTTGACATTGAGCAGGTCCTGGTACTCCTGCAAGTGGCGGGCCATCTCGTCCTTGAGGCTCTGCCCCTCTTCCTCCAGCCGCGCCAGCGCCTCCTGATAACTGGCCGCCTCCCGCACGTGCCGCTCCTCCTGCTCGCGCATCTGCCTCTCCAGGGACTCGTTCTGTGGGATGGAGCCGGCCGGTCCCGCGGAGCCCCGACCCGACTTGGGGAGGTTTCGAGGCCCGGCCCCCGGCCCCAGGCCCCGCCTCTAGCCCGGGGGTAACGTTCAGGCCCCGCCCTCGACCCAGGTCCTCGTCCCTGGCCCTTCTCCCCTGGCATCTCCTGGGGTGGCCGTCCCTGCTCCGCCCGTCCCCGTCCTGCCCTGGCCGCGCTCACCGTGCCGCGCAGAGACTCCAGGTCGCAGGTCAAGGACTGCAACTGGCGCCGGTAGTCGTTGGCTTCGTGCTTGGCCTGGCGGAGCAGCTCCGCGTTGCGGGCAGCAGCGTCTGTCAGGTCTGCAAACTAGGTGGGGGACACATATGGGGGGCTGTGTGGGCCCATGGGCAGGCACGGGCTCTGGGAAATCAGGGAGGTGAGCAGCACCCCAGTTAACCCCAGGACGTTGGCCCTGGCTGGGACTTTTCCCAACAACTGTGACCCATGGATGCGGGCAGGGTAGCGGGCTGCCAGACCTCAGCACCTAGCACAACACCTGGTCAGCAAGCGAATGAATGAACAGTGCCACAGAATCCAGAACCTTCCACACTGACAGCTGCATCTGCGGGACTGAACGCTGTCGTCTTAGGCGAGCGGAGGCCTGGGTGTTTTGTGTGTTTTTGTTTTTTTGTTTTTTTTGTTTTATTTTGAGACAGAGTCTTGCTCTTGTCGCCCAGGTTGGAAGTCAGTGGCACAATCCCGGGTCACTGCAACCTCTGCCTCCCAGGTTCAAGCAATTCTCCTGCCCCAGCCACCTGAGTAGCTGGGATTACAGGCATGCGCCACTACACCCGGCTGATTTTGTATTTTTAGTAGAGACGGGGTTTCACCATGTTGACCAGGCTAGTCTTGAACTGCTGACCTCAGGTGATCCGCATGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACCTCGCCTGGCCTCACCCTGGGTTCTAATAGCCCTTTCTCCCCTGCCTGCAGGGAGGTCCTCCCAGCCCCATCGGGCCCTCACCCTGCTCAGACACCAGTGGCTTCTGCCACTCACACTCCTCAGCTAGGTGCCCTGGCTAGGCTAGCATCTTGGGGCCCTGCCTCTCTGTGCTTTTCTGCCTCCAGGCTCTGTCCTCCACTAGGAATGGCCCTCCCTTCTTCTCTTCCTGTCCACAGCGTGCCTGTCCTGCCTAGCCCAAATGCC
CCAGGCATGGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCCGAGGCAGGTGGATCGCCTGAGGTCAGGAGTTTGAGACCAGCCTGACTAATATGGTGAAACCCTGTCTCTACTAAAAATACAAAAATTAGTCAGGCATGGTGACAGGTGCCTGTAGTCCCAGCTACTCAGGAGGCTGAGAGAGGAGAATCACTTGAACCTGGGAGGCGGAGGTTGCAGTAAGCTGCGATCGTGCCACTGCACTCCAGCCTGAGCAACAGAGTAAGACTCCGTCGAAAGCAGGCAAGCAAGCAAGCAAGCAAGCAGGAAAGAGAAAGGAAGGAAGGAAGGAAGGAAGGAAGAAAGAAAGAAAGAAAGAAAAAGAAAGATTAGCCAGGTGTGGTGGCTCGCACCTGTAATCCCCTTACTCGGGAGTCTGAGGCACGAGAATTGCTTGAACCTGGGAGGTGGAGGTTGCAGTGAGCCAAGATTGCACTACTGCATTCCAGCCTGAGTGACAGAGGGACGCTCTGCCGAAGGAAGGAAGGAAAGAAGGAAGGAAGGAAGAAAAGAAGGAAGGAAGGAAGGAAGGATCAGGAGACCAGAGCTCAAGAAGTCCCAACTTAGCCACCAACCAGCCACATGACTCTGGGCAAGTTAATTGACCTCTCCCAGCCTCAGTTTCCTCATCTGTAAAATAAGGATGATGGGGCCTACTTCTCTAGGTGGGAGAGAGGAGACAATTAACTAAAATAAAGGCTGTTAAACATGTGGCACATATTAGTGCTCAATACACATAGGTCCCTTTCCTGTCCCCTTTCCTCTTTCCTACTTCTCTCTGCCATTTATCTGTGCTTTAGTGACCTGTGACTATCTAGGATTTGGCAGTATTACCTCTACTAGTCAGCCTGGTTAGCCTTTCTGATGCTGAATTAAGTCCTGAGACATGCATATCTAGTGGTCCTAAATATTCTAGTCCAGAAGAAGAGGAATTTTGTTCCTTAGCTAAGAATCATTTCAGGGCCAATGCAAGTAAAAAGTAATTTAGCTCCCCCCTCCCCCCGCCCCGCCCGAGAGAGAAAAATATAACACGTCACATTCACTAATATTTAACATTAAGAGCAGGGAACATAAAACTTTATTCACTGCAAGAGCTGCGGTCCTGAGGGAAGAATCCTCTGAACTGAGTCAGCACTGAGCTGAGCGATGGAGCCTCAGGGATGAAAGAATAAAGCAGAGAGCCTGGCGTCCAGGCACAGCGAGACCCAAGGGGCCCTCCCAGTGACAGGAAGAGGTGAGACAGAGGCTGCTGCTTGCTCAGAGGCCCCAGAGCAGCTCCACTGCGCACCCAAGGACTCACCACCTTTACCACTAACAAGCTCTGCCAGTTTAATGTACAGTTACTCTGTACCACGTCCTGGGCTGGGCACTGCAGTTCCTGGGAAAATGACGCAGTCCAGGCCCTTTAGGGGAAGCCTGGGAAGAGGGAACTCAGGGGGATTGGGAGGATGGGGTGGGTGAGGCTCACTCCCTGTCAAGCTGGGCAAAGCGCCGTGTCTGAGAGGCAGGCAGCTAACCGCGAGCCGGCGGCGTTCCATTTACAATCTGGTGAGCCTGTATTGGTATAACTCGTATTGTGAGGCTTTTGAGATATCTTGTGACCTTGTGATTTTCCCCGTCTTTGGTGCTTTTGCCCCCTGTAGTGACAAGCAGTTAAAAAAACAAAAACAGAAAACACTCAGAAGGGCAGTGCTTGCTCAGGGATCTGCAGACAGGGCAGATGTCAAGCTCTCACCCAGTTCTGCTGTCGAATGGGGTGCAGGGAGGGGAAGAGGGACCAGGGCCTAGCAGGACAGGGGCAGCTGCAAGCCCCACCTAGAAGTACCCTGGTATGATAGGCTCTGGCTAGGAGCGCTGCAGTGTCACGAAGGCCCCCAGGGAGAGCTGGATCCCTTTGCCCTGATCCTCAGTCCCAGTCTGGAGCAACCTACAGGCCCTGGAGGAGGGGGCAGGACTCCAGTGCCCTTCCCACGAGGCCCTGCTGTACTGACCTCGAATCTGCAGGCTGGAGAAGGTCTGCACGGGAATGGTGATCCTGAAAGAAAGCAGAGGGAGAGGGCTGCCCGGGCTGCCTGGGACACCCCTAGGCTGGGTCTTGGTGCGGGGCCATCATGACAACTTGAACGCCCTTTTCCTTGCCAGGAAAGTCTAACTCCATCTCCTAGCTTTTTCCCCAGCAGCCAACGTGCTATCTGGAGTTCCAAACGTCTGCAAGGGGCTTGAGTGTTATCTGGGAGGGGCGCATGTCTATCTGAAGGAAGATGGAAAAGGGAGGGGAAAGTGGTGAAGAAAGTTCCAAGGAGGCAGAAGAGATGGGTGAGGTGAGGAGTCCAATCTTGGCTGGGAAGATGGGGAGTATGCCTCTTAGTTTGGAGGGTGACCCAAGTCCTTGGCCTTGAGGCCTAATCAATATTGGTTGAATCCATCCATCCATTCAGTCATCAAACATCTAGTGACTGCCTGCTATGTGTGAGGCAGGCACTGTGCTGGGCATTGAGGTGGGAAGGGATCTGCACACAAGGCTGAAAAAGACTCAGTCCCTGAAGGGAGCAAGATGAGCTCTACCGTGAGGCAGCAGGGAGACTTCCCCAGGGGCTGTGATGAGGGCTCACCGGTTCTCCTCGCCCTCTAGCAGCTTCCTGTAGGTGGCGATCTCGATGTCCAGGGCCAGCTTGACATTGAGCAGGTCCTGGTACTCCTGCAAGTGGCGGGCCATCTCGTCCTTGAGGCTCTGCCCCTCTTCCTCCAGCCGCGCCAGCGCCTCCTGATAACTGGCCGCCTCCCGCACGTGCCGCTCCTCCTGCTCGCGCATCTGCCTCTCCAGGGACTCGTTCTGTGGGATGGAGCCGGCCGGTCCCGCGGAGCCCCGACCCGACTTGGGGAGGTTTCGAGGCCCGGCCCCCGGCCCCAGGCCCCGCCTCTAGCCCGGGGGTAACGTTCAGGCCCCGCCCTCGACCCAGGTCCTCGTCCCTGGCCCTTCTCCCCTGGCATCTCCTGGGGTGGCCGTCCCTGCTCCGCCCGTCCCCGTCCTGCCCTGGCCGCGCTCACCGTGCCGCGCAGAGACTCCAGGTCGCAGGTCAAGGACTGCAACTGGCGCCGGTAGTCGTTGGCTTCGTGCTTGGCCTGGCGGAGCAGCTCCGCGTTGCGGGCAGCAGCGTCTGTCAGGTCTGCAAACTAGGTGGGGGACACATATGGGGGGCTGTGTGGGCCCATGGGCAGGCACGGGCTCTGGGAAATCAGGGAGGTGAGCAGCACCCCAGTTAACCCCAGGACGTTGGCCCTGGCTGGGACTTTTCCCAACAACTGTGACCCATGGATGCGGGCAGGGTAGCGGGCTGCCAGACCTCAGCACCTAGCACAACACCTGGTCAGCAAGCGAATGAATGAACAGTGCCACAGAATCCAGAACCTTCCACACTGACAGCTGCATCTGCGGGACTGAACGCTGTCGTCTTAGGCGAGCGGAGGCCTGGGTGTTTTGTGTGTTTTTGTTTTTTTGTTTTTTTTGTTTTATTTTGAGACAGAGTCTTGCTCTTGTCGCCCAGGTTGGAAGTCAGTGGCACAATCCCGGGTCACTGCAACCTCTGCCTCCCAGGTTCAAGCAATTCTCCTGCCCCAGCCACCTGAGTAGCTGGGATTACAGGCATGCGCCACTACACCCGGCTGATTTTGTATTTTTAGTAGAGACGGGGTTTCACCATGTTGACCAGGCTAGTCTTGAACTGCTGACCTCAGGTGATCCGCATGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACCTCGCCTGGCCTCACCCTGGGTTCTAATAGCCCTTTCTCCCCTGCCTGCAGGGAGGTCCTCCCAGCCCCATCGGGCCCTCACCCTGCTCAGACACCAGTGGCTTCTGCCACTCACACTCCTCAGCTAGGTGCCCTGGCTAGGCTAGCATCTTGGGGCCCTGCCTCTCTGTGCTTTTCTGCCTCCAGGCTCTGTCCTCCACTAGGAATGGCCCTCCCTTCTTCTCTTCCTGTCCACAGCGTGCCTGTCCTGCCTAGCCCAAATGCC
Task1_train_24755
This alteration in GFAP, LOC130060994 (glial fibrillary acidic protein| ATAC-STARR-seq lymphoblastoid active region 12266) on Chromosome 17 may affect gene function. Does it lead to a disease or is it benign?
Pathogenic; not provided
AGCCACCAACCAGCCACATGACTCTGGGCAAGTTAATTGACCTCTCCCAGCCTCAGTTTCCTCATCTGTAAAATAAGGATGATGGGGCCTACTTCTCTAGGTGGGAGAGAGGAGACAATTAACTAAAATAAAGGCTGTTAAACATGTGGCACATATTAGTGCTCAATACACATAGGTCCCTTTCCTGTCCCCTTTCCTCTTTCCTACTTCTCTCTGCCATTTATCTGTGCTTTAGTGACCTGTGACTATCTAGGATTTGGCAGTATTACCTCTACTAGTCAGCCTGGTTAGCCTTTCTGATGCTGAATTAAGTCCTGAGACATGCATATCTAGTGGTCCTAAATATTCTAGTCCAGAAGAAGAGGAATTTTGTTCCTTAGCTAAGAATCATTTCAGGGCCAATGCAAGTAAAAAGTAATTTAGCTCCCCCCTCCCCCCGCCCCGCCCGAGAGAGAAAAATATAACACGTCACATTCACTAATATTTAACATTAAGAGCAGGGAACATAAAACTTTATTCACTGCAAGAGCTGCGGTCCTGAGGGAAGAATCCTCTGAACTGAGTCAGCACTGAGCTGAGCGATGGAGCCTCAGGGATGAAAGAATAAAGCAGAGAGCCTGGCGTCCAGGCACAGCGAGACCCAAGGGGCCCTCCCAGTGACAGGAAGAGGTGAGACAGAGGCTGCTGCTTGCTCAGAGGCCCCAGAGCAGCTCCACTGCGCACCCAAGGACTCACCACCTTTACCACTAACAAGCTCTGCCAGTTTAATGTACAGTTACTCTGTACCACGTCCTGGGCTGGGCACTGCAGTTCCTGGGAAAATGACGCAGTCCAGGCCCTTTAGGGGAAGCCTGGGAAGAGGGAACTCAGGGGGATTGGGAGGATGGGGTGGGTGAGGCTCACTCCCTGTCAAGCTGGGCAAAGCGCCGTGTCTGAGAGGCAGGCAGCTAACCGCGAGCCGGCGGCGTTCCATTTACAATCTGGTGAGCCTGTATTGGTATAACTCGTATTGTGAGGCTTTTGAGATATCTTGTGACCTTGTGATTTTCCCCGTCTTTGGTGCTTTTGCCCCCTGTAGTGACAAGCAGTTAAAAAAACAAAAACAGAAAACACTCAGAAGGGCAGTGCTTGCTCAGGGATCTGCAGACAGGGCAGATGTCAAGCTCTCACCCAGTTCTGCTGTCGAATGGGGTGCAGGGAGGGGAAGAGGGACCAGGGCCTAGCAGGACAGGGGCAGCTGCAAGCCCCACCTAGAAGTACCCTGGTATGATAGGCTCTGGCTAGGAGCGCTGCAGTGTCACGAAGGCCCCCAGGGAGAGCTGGATCCCTTTGCCCTGATCCTCAGTCCCAGTCTGGAGCAACCTACAGGCCCTGGAGGAGGGGGCAGGACTCCAGTGCCCTTCCCACGAGGCCCTGCTGTACTGACCTCGAATCTGCAGGTTGGAGAAGGTCTGCACGGGAATGGTGATCCTGAAAGAAAGCAGAGGGAGAGGGCTGCCCGGGCTGCCTGGGACACCCCTAGGCTGGGTCTTGGTGCGGGGCCATCATGACAACTTGAACGCCCTTTTCCTTGCCAGGAAAGTCTAACTCCATCTCCTAGCTTTTTCCCCAGCAGCCAACGTGCTATCTGGAGTTCCAAACGTCTGCAAGGGGCTTGAGTGTTATCTGGGAGGGGCGCATGTCTATCTGAAGGAAGATGGAAAAGGGAGGGGAAAGTGGTGAAGAAAGTTCCAAGGAGGCAGAAGAGATGGGTGAGGTGAGGAGTCCAATCTTGGCTGGGAAGATGGGGAGTATGCCTCTTAGTTTGGAGGGTGACCCAAGTCCTTGGCCTTGAGGCCTAATCAATATTGGTTGAATCCATCCATCCATTCAGTCATCAAACATCTAGTGACTGCCTGCTATGTGTGAGGCAGGCACTGTGCTGGGCATTGAGGTGGGAAGGGATCTGCACACAAGGCTGAAAAAGACTCAGTCCCTGAAGGGAGCAAGATGAGCTCTACCGTGAGGCAGCAGGGAGACTTCCCCAGGGGCTGTGATGAGGGCTCACCGGTTCTCCTCGCCCTCTAGCAGCTTCCTGTAGGTGGCGATCTCGATGTCCAGGGCCAGCTTGACATTGAGCAGGTCCTGGTACTCCTGCAAGTGGCGGGCCATCTCGTCCTTGAGGCTCTGCCCCTCTTCCTCCAGCCGCGCCAGCGCCTCCTGATAACTGGCCGCCTCCCGCACGTGCCGCTCCTCCTGCTCGCGCATCTGCCTCTCCAGGGACTCGTTCTGTGGGATGGAGCCGGCCGGTCCCGCGGAGCCCCGACCCGACTTGGGGAGGTTTCGAGGCCCGGCCCCCGGCCCCAGGCCCCGCCTCTAGCCCGGGGGTAACGTTCAGGCCCCGCCCTCGACCCAGGTCCTCGTCCCTGGCCCTTCTCCCCTGGCATCTCCTGGGGTGGCCGTCCCTGCTCCGCCCGTCCCCGTCCTGCCCTGGCCGCGCTCACCGTGCCGCGCAGAGACTCCAGGTCGCAGGTCAAGGACTGCAACTGGCGCCGGTAGTCGTTGGCTTCGTGCTTGGCCTGGCGGAGCAGCTCCGCGTTGCGGGCAGCAGCGTCTGTCAGGTCTGCAAACTAGGTGGGGGACACATATGGGGGGCTGTGTGGGCCCATGGGCAGGCACGGGCTCTGGGAAATCAGGGAGGTGAGCAGCACCCCAGTTAACCCCAGGACGTTGGCCCTGGCTGGGACTTTTCCCAACAACTGTGACCCATGGATGCGGGCAGGGTAGCGGGCTGCCAGACCTCAGCACCTAGCACAACACCTGGTCAGCAAGCGAATGAATGAACAGTGCCACAGAATCCAGAACCTTCCACACTGACAGCTGCATCTGCGGGACTGAACGCTGTCGTCTTAGGCGAGCGGAGGCCTGGGTGTTTTGTGTGTTTTTGTTTTTTTGTTTTTTTTGTTTTATTTTGAGACAGAGTCTTGCTCTTGTCGCCCAGGTTGGAAGTCAGTGGCACAATCCCGGGTCACTGCAACCTCTGCCTCCCAGGTTCAAGCAATTCTCCTGCCCCAGCCACCTGAGTAGCTGGGATTACAGGCATGCGCCACTACACCCGGCTGATTTTGTATTTTTAGTAGAGACGGGGTTTCACCATGTTGACCAGGCTAGTCTTGAACTGCTGACCTCAGGTGATCCGCATGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACCTCGCCTGGCCTCACCCTGGGTTCTAATAGCCCTTTCTCCCCTGCCTGCAGGGAGGTCCTCCCAGCCCCATCGGGCCCTCACCCTGCTCAGACACCAGTGGCTTCTGCCACTCACACTCCTCAGCTAGGTGCCCTGGCTAGGCTAGCATCTTGGGGCCCTGCCTCTCTGTGCTTTTCTGCCTCCAGGCTCTGTCCTCCACTAGGAATGGCCCTCCCTTCTTCTCTTCCTGTCCACAGCGTGCCTGTCCTGCCTAGCCCAAATGCCCCCTCTACAGTGTCTTTCCTGGCTCCCACACTACATATAAGCTCTGAGCTGTGGTGTTCTCTACGGGCACTATGTTTGGGTGCACGTCAATATCACACCTTCCAGGTCAGACACCTCTCTGTGTCCTGGGGGGTGCCTGGCATATGGTAGAGGCTCAGTAACCCAAAACAGACTGGCAGAGGCATGGAATGCAGGCTCCCAAGTGAGATGTGCTAGAGTTGGAAATCCAACTCTACCACTTAGGAGCTGTGTGACTTTGAGCAAATTAGTTAACCTCTCTGGACTTCGGCTCTCTCATCTGTCAAAGAACAGCACCTACTTCATAGTAAGGTAATCCATGAAAAGCACAGGGCTTAGAACAGAACAGTATCAGCTACTACTAATAATAGCAATAGTAGCAGTAATAATAATGGGTACTTTTGAAAGCAATAGTGCCTGTGTGACCCTGGGCAAGCCATCTCACTTCTCTGGTGAAAGTCAGTCACCTGGAGAGGATATTCTCCCAGCTTCCTCCACCCTCCTTCCCCCATTCTCTTGTACAGAGCAAGAAGGGCTGCCTGGAGGAGGCAGGCTGGCCCACAGGCAGGGCTACCTTGGAGCGGTACCAC
AGCCACCAACCAGCCACATGACTCTGGGCAAGTTAATTGACCTCTCCCAGCCTCAGTTTCCTCATCTGTAAAATAAGGATGATGGGGCCTACTTCTCTAGGTGGGAGAGAGGAGACAATTAACTAAAATAAAGGCTGTTAAACATGTGGCACATATTAGTGCTCAATACACATAGGTCCCTTTCCTGTCCCCTTTCCTCTTTCCTACTTCTCTCTGCCATTTATCTGTGCTTTAGTGACCTGTGACTATCTAGGATTTGGCAGTATTACCTCTACTAGTCAGCCTGGTTAGCCTTTCTGATGCTGAATTAAGTCCTGAGACATGCATATCTAGTGGTCCTAAATATTCTAGTCCAGAAGAAGAGGAATTTTGTTCCTTAGCTAAGAATCATTTCAGGGCCAATGCAAGTAAAAAGTAATTTAGCTCCCCCCTCCCCCCGCCCCGCCCGAGAGAGAAAAATATAACACGTCACATTCACTAATATTTAACATTAAGAGCAGGGAACATAAAACTTTATTCACTGCAAGAGCTGCGGTCCTGAGGGAAGAATCCTCTGAACTGAGTCAGCACTGAGCTGAGCGATGGAGCCTCAGGGATGAAAGAATAAAGCAGAGAGCCTGGCGTCCAGGCACAGCGAGACCCAAGGGGCCCTCCCAGTGACAGGAAGAGGTGAGACAGAGGCTGCTGCTTGCTCAGAGGCCCCAGAGCAGCTCCACTGCGCACCCAAGGACTCACCACCTTTACCACTAACAAGCTCTGCCAGTTTAATGTACAGTTACTCTGTACCACGTCCTGGGCTGGGCACTGCAGTTCCTGGGAAAATGACGCAGTCCAGGCCCTTTAGGGGAAGCCTGGGAAGAGGGAACTCAGGGGGATTGGGAGGATGGGGTGGGTGAGGCTCACTCCCTGTCAAGCTGGGCAAAGCGCCGTGTCTGAGAGGCAGGCAGCTAACCGCGAGCCGGCGGCGTTCCATTTACAATCTGGTGAGCCTGTATTGGTATAACTCGTATTGTGAGGCTTTTGAGATATCTTGTGACCTTGTGATTTTCCCCGTCTTTGGTGCTTTTGCCCCCTGTAGTGACAAGCAGTTAAAAAAACAAAAACAGAAAACACTCAGAAGGGCAGTGCTTGCTCAGGGATCTGCAGACAGGGCAGATGTCAAGCTCTCACCCAGTTCTGCTGTCGAATGGGGTGCAGGGAGGGGAAGAGGGACCAGGGCCTAGCAGGACAGGGGCAGCTGCAAGCCCCACCTAGAAGTACCCTGGTATGATAGGCTCTGGCTAGGAGCGCTGCAGTGTCACGAAGGCCCCCAGGGAGAGCTGGATCCCTTTGCCCTGATCCTCAGTCCCAGTCTGGAGCAACCTACAGGCCCTGGAGGAGGGGGCAGGACTCCAGTGCCCTTCCCACGAGGCCCTGCTGTACTGACCTCGAATCTGCAGGTTGGAGAAGGTCTGCACGGGAATGGTGATCCTGAAAGAAAGCAGAGGGAGAGGGCTGCCCGGGCTGCCTGGGACACCCCTAGGCTGGGTCTTGGTGCGGGGCCATCATGACAACTTGAACGCCCTTTTCCTTGCCAGGAAAGTCTAACTCCATCTCCTAGCTTTTTCCCCAGCAGCCAACGTGCTATCTGGAGTTCCAAACGTCTGCAAGGGGCTTGAGTGTTATCTGGGAGGGGCGCATGTCTATCTGAAGGAAGATGGAAAAGGGAGGGGAAAGTGGTGAAGAAAGTTCCAAGGAGGCAGAAGAGATGGGTGAGGTGAGGAGTCCAATCTTGGCTGGGAAGATGGGGAGTATGCCTCTTAGTTTGGAGGGTGACCCAAGTCCTTGGCCTTGAGGCCTAATCAATATTGGTTGAATCCATCCATCCATTCAGTCATCAAACATCTAGTGACTGCCTGCTATGTGTGAGGCAGGCACTGTGCTGGGCATTGAGGTGGGAAGGGATCTGCACACAAGGCTGAAAAAGACTCAGTCCCTGAAGGGAGCAAGATGAGCTCTACCGTGAGGCAGCAGGGAGACTTCCCCAGGGGCTGTGATGAGGGCTCACCAGTTCTCCTCGCCCTCTAGCAGCTTCCTGTAGGTGGCGATCTCGATGTCCAGGGCCAGCTTGACATTGAGCAGGTCCTGGTACTCCTGCAAGTGGCGGGCCATCTCGTCCTTGAGGCTCTGCCCCTCTTCCTCCAGCCGCGCCAGCGCCTCCTGATAACTGGCCGCCTCCCGCACGTGCCGCTCCTCCTGCTCGCGCATCTGCCTCTCCAGGGACTCGTTCTGTGGGATGGAGCCGGCCGGTCCCGCGGAGCCCCGACCCGACTTGGGGAGGTTTCGAGGCCCGGCCCCCGGCCCCAGGCCCCGCCTCTAGCCCGGGGGTAACGTTCAGGCCCCGCCCTCGACCCAGGTCCTCGTCCCTGGCCCTTCTCCCCTGGCATCTCCTGGGGTGGCCGTCCCTGCTCCGCCCGTCCCCGTCCTGCCCTGGCCGCGCTCACCGTGCCGCGCAGAGACTCCAGGTCGCAGGTCAAGGACTGCAACTGGCGCCGGTAGTCGTTGGCTTCGTGCTTGGCCTGGCGGAGCAGCTCCGCGTTGCGGGCAGCAGCGTCTGTCAGGTCTGCAAACTAGGTGGGGGACACATATGGGGGGCTGTGTGGGCCCATGGGCAGGCACGGGCTCTGGGAAATCAGGGAGGTGAGCAGCACCCCAGTTAACCCCAGGACGTTGGCCCTGGCTGGGACTTTTCCCAACAACTGTGACCCATGGATGCGGGCAGGGTAGCGGGCTGCCAGACCTCAGCACCTAGCACAACACCTGGTCAGCAAGCGAATGAATGAACAGTGCCACAGAATCCAGAACCTTCCACACTGACAGCTGCATCTGCGGGACTGAACGCTGTCGTCTTAGGCGAGCGGAGGCCTGGGTGTTTTGTGTGTTTTTGTTTTTTTGTTTTTTTTGTTTTATTTTGAGACAGAGTCTTGCTCTTGTCGCCCAGGTTGGAAGTCAGTGGCACAATCCCGGGTCACTGCAACCTCTGCCTCCCAGGTTCAAGCAATTCTCCTGCCCCAGCCACCTGAGTAGCTGGGATTACAGGCATGCGCCACTACACCCGGCTGATTTTGTATTTTTAGTAGAGACGGGGTTTCACCATGTTGACCAGGCTAGTCTTGAACTGCTGACCTCAGGTGATCCGCATGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACCTCGCCTGGCCTCACCCTGGGTTCTAATAGCCCTTTCTCCCCTGCCTGCAGGGAGGTCCTCCCAGCCCCATCGGGCCCTCACCCTGCTCAGACACCAGTGGCTTCTGCCACTCACACTCCTCAGCTAGGTGCCCTGGCTAGGCTAGCATCTTGGGGCCCTGCCTCTCTGTGCTTTTCTGCCTCCAGGCTCTGTCCTCCACTAGGAATGGCCCTCCCTTCTTCTCTTCCTGTCCACAGCGTGCCTGTCCTGCCTAGCCCAAATGCCCCCTCTACAGTGTCTTTCCTGGCTCCCACACTACATATAAGCTCTGAGCTGTGGTGTTCTCTACGGGCACTATGTTTGGGTGCACGTCAATATCACACCTTCCAGGTCAGACACCTCTCTGTGTCCTGGGGGGTGCCTGGCATATGGTAGAGGCTCAGTAACCCAAAACAGACTGGCAGAGGCATGGAATGCAGGCTCCCAAGTGAGATGTGCTAGAGTTGGAAATCCAACTCTACCACTTAGGAGCTGTGTGACTTTGAGCAAATTAGTTAACCTCTCTGGACTTCGGCTCTCTCATCTGTCAAAGAACAGCACCTACTTCATAGTAAGGTAATCCATGAAAAGCACAGGGCTTAGAACAGAACAGTATCAGCTACTACTAATAATAGCAATAGTAGCAGTAATAATAATGGGTACTTTTGAAAGCAATAGTGCCTGTGTGACCCTGGGCAAGCCATCTCACTTCTCTGGTGAAAGTCAGTCACCTGGAGAGGATATTCTCCCAGCTTCCTCCACCCTCCTTCCCCCATTCTCTTGTACAGAGCAAGAAGGGCTGCCTGGAGGAGGCAGGCTGGCCCACAGGCAGGGCTACCTTGGAGCGGTACCAC
Task1_train_24756
This sequence variant lies in GFAP, LOC130060994 (glial fibrillary acidic protein| ATAC-STARR-seq lymphoblastoid active region 12266) on Chromosome 17. Is it clinically significant, and what condition might it cause if any?
Pathogenic; not provided
AGCCACCAACCAGCCACATGACTCTGGGCAAGTTAATTGACCTCTCCCAGCCTCAGTTTCCTCATCTGTAAAATAAGGATGATGGGGCCTACTTCTCTAGGTGGGAGAGAGGAGACAATTAACTAAAATAAAGGCTGTTAAACATGTGGCACATATTAGTGCTCAATACACATAGGTCCCTTTCCTGTCCCCTTTCCTCTTTCCTACTTCTCTCTGCCATTTATCTGTGCTTTAGTGACCTGTGACTATCTAGGATTTGGCAGTATTACCTCTACTAGTCAGCCTGGTTAGCCTTTCTGATGCTGAATTAAGTCCTGAGACATGCATATCTAGTGGTCCTAAATATTCTAGTCCAGAAGAAGAGGAATTTTGTTCCTTAGCTAAGAATCATTTCAGGGCCAATGCAAGTAAAAAGTAATTTAGCTCCCCCCTCCCCCCGCCCCGCCCGAGAGAGAAAAATATAACACGTCACATTCACTAATATTTAACATTAAGAGCAGGGAACATAAAACTTTATTCACTGCAAGAGCTGCGGTCCTGAGGGAAGAATCCTCTGAACTGAGTCAGCACTGAGCTGAGCGATGGAGCCTCAGGGATGAAAGAATAAAGCAGAGAGCCTGGCGTCCAGGCACAGCGAGACCCAAGGGGCCCTCCCAGTGACAGGAAGAGGTGAGACAGAGGCTGCTGCTTGCTCAGAGGCCCCAGAGCAGCTCCACTGCGCACCCAAGGACTCACCACCTTTACCACTAACAAGCTCTGCCAGTTTAATGTACAGTTACTCTGTACCACGTCCTGGGCTGGGCACTGCAGTTCCTGGGAAAATGACGCAGTCCAGGCCCTTTAGGGGAAGCCTGGGAAGAGGGAACTCAGGGGGATTGGGAGGATGGGGTGGGTGAGGCTCACTCCCTGTCAAGCTGGGCAAAGCGCCGTGTCTGAGAGGCAGGCAGCTAACCGCGAGCCGGCGGCGTTCCATTTACAATCTGGTGAGCCTGTATTGGTATAACTCGTATTGTGAGGCTTTTGAGATATCTTGTGACCTTGTGATTTTCCCCGTCTTTGGTGCTTTTGCCCCCTGTAGTGACAAGCAGTTAAAAAAACAAAAACAGAAAACACTCAGAAGGGCAGTGCTTGCTCAGGGATCTGCAGACAGGGCAGATGTCAAGCTCTCACCCAGTTCTGCTGTCGAATGGGGTGCAGGGAGGGGAAGAGGGACCAGGGCCTAGCAGGACAGGGGCAGCTGCAAGCCCCACCTAGAAGTACCCTGGTATGATAGGCTCTGGCTAGGAGCGCTGCAGTGTCACGAAGGCCCCCAGGGAGAGCTGGATCCCTTTGCCCTGATCCTCAGTCCCAGTCTGGAGCAACCTACAGGCCCTGGAGGAGGGGGCAGGACTCCAGTGCCCTTCCCACGAGGCCCTGCTGTACTGACCTCGAATCTGCAGGTTGGAGAAGGTCTGCACGGGAATGGTGATCCTGAAAGAAAGCAGAGGGAGAGGGCTGCCCGGGCTGCCTGGGACACCCCTAGGCTGGGTCTTGGTGCGGGGCCATCATGACAACTTGAACGCCCTTTTCCTTGCCAGGAAAGTCTAACTCCATCTCCTAGCTTTTTCCCCAGCAGCCAACGTGCTATCTGGAGTTCCAAACGTCTGCAAGGGGCTTGAGTGTTATCTGGGAGGGGCGCATGTCTATCTGAAGGAAGATGGAAAAGGGAGGGGAAAGTGGTGAAGAAAGTTCCAAGGAGGCAGAAGAGATGGGTGAGGTGAGGAGTCCAATCTTGGCTGGGAAGATGGGGAGTATGCCTCTTAGTTTGGAGGGTGACCCAAGTCCTTGGCCTTGAGGCCTAATCAATATTGGTTGAATCCATCCATCCATTCAGTCATCAAACATCTAGTGACTGCCTGCTATGTGTGAGGCAGGCACTGTGCTGGGCATTGAGGTGGGAAGGGATCTGCACACAAGGCTGAAAAAGACTCAGTCCCTGAAGGGAGCAAGATGAGCTCTACCGTGAGGCAGCAGGGAGACTTCCCCAGGGGCTGTGATGAGGGCTCACCGGTTCTCCTCGCCCTCTAGCAGCTTCCTGTAGGTGGCGATCTCGATGTCCAGGGCCAGCTTGACATTGAGCAGGTCCTGGTACTCCTGCAAGTGGCGGGCCATCTCGTCCTTGAGGCTCTGCCCCTCTTCCTCCAGCCGCGCCAGCGCCTCCTGATAACTGGCCGCCTCCCGCACGTGCCGCTCCTCCTGCTCGCGCATCTGCCTCTCCAGGGACTCGTTCTGTGGGATGGAGCCGGCCGGTCCCGCGGAGCCCCGACCCGACTTGGGGAGGTTTCGAGGCCCGGCCCCCGGCCCCAGGCCCCGCCTCTAGCCCGGGGGTAACGTTCAGGCCCCGCCCTCGACCCAGGTCCTCGTCCCTGGCCCTTCTCCCCTGGCATCTCCTGGGGTGGCCGTCCCTGCTCCGCCCGTCCCCGTCCTGCCCTGGCCGCGCTCACCGTGCCGCGCAGAGACTCCAGGTCGCAGGTCAAGGACTGCAACTGGCGCCGGTAGTCGTTGGCTTCGTGCTTGGCCTGGCGGAGCAGCTCCGCGTTGCGGGCAGCAGCGTCTGTCAGGTCTGCAAACTAGGTGGGGGACACATATGGGGGGCTGTGTGGGCCCATGGGCAGGCACGGGCTCTGGGAAATCAGGGAGGTGAGCAGCACCCCAGTTAACCCCAGGACGTTGGCCCTGGCTGGGACTTTTCCCAACAACTGTGACCCATGGATGCGGGCAGGGTAGCGGGCTGCCAGACCTCAGCACCTAGCACAACACCTGGTCAGCAAGCGAATGAATGAACAGTGCCACAGAATCCAGAACCTTCCACACTGACAGCTGCATCTGCGGGACTGAACGCTGTCGTCTTAGGCGAGCGGAGGCCTGGGTGTTTTGTGTGTTTTTGTTTTTTTGTTTTTTTTGTTTTATTTTGAGACAGAGTCTTGCTCTTGTCGCCCAGGTTGGAAGTCAGTGGCACAATCCCGGGTCACTGCAACCTCTGCCTCCCAGGTTCAAGCAATTCTCCTGCCCCAGCCACCTGAGTAGCTGGGATTACAGGCATGCGCCACTACACCCGGCTGATTTTGTATTTTTAGTAGAGACGGGGTTTCACCATGTTGACCAGGCTAGTCTTGAACTGCTGACCTCAGGTGATCCGCATGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACCTCGCCTGGCCTCACCCTGGGTTCTAATAGCCCTTTCTCCCCTGCCTGCAGGGAGGTCCTCCCAGCCCCATCGGGCCCTCACCCTGCTCAGACACCAGTGGCTTCTGCCACTCACACTCCTCAGCTAGGTGCCCTGGCTAGGCTAGCATCTTGGGGCCCTGCCTCTCTGTGCTTTTCTGCCTCCAGGCTCTGTCCTCCACTAGGAATGGCCCTCCCTTCTTCTCTTCCTGTCCACAGCGTGCCTGTCCTGCCTAGCCCAAATGCCCCCTCTACAGTGTCTTTCCTGGCTCCCACACTACATATAAGCTCTGAGCTGTGGTGTTCTCTACGGGCACTATGTTTGGGTGCACGTCAATATCACACCTTCCAGGTCAGACACCTCTCTGTGTCCTGGGGGGTGCCTGGCATATGGTAGAGGCTCAGTAACCCAAAACAGACTGGCAGAGGCATGGAATGCAGGCTCCCAAGTGAGATGTGCTAGAGTTGGAAATCCAACTCTACCACTTAGGAGCTGTGTGACTTTGAGCAAATTAGTTAACCTCTCTGGACTTCGGCTCTCTCATCTGTCAAAGAACAGCACCTACTTCATAGTAAGGTAATCCATGAAAAGCACAGGGCTTAGAACAGAACAGTATCAGCTACTACTAATAATAGCAATAGTAGCAGTAATAATAATGGGTACTTTTGAAAGCAATAGTGCCTGTGTGACCCTGGGCAAGCCATCTCACTTCTCTGGTGAAAGTCAGTCACCTGGAGAGGATATTCTCCCAGCTTCCTCCACCCTCCTTCCCCCATTCTCTTGTACAGAGCAAGAAGGGCTGCCTGGAGGAGGCAGGCTGGCCCACAGGCAGGGCTACCTTGGAGCGGTACCAC
AGCCACCAACCAGCCACATGACTCTGGGCAAGTTAATTGACCTCTCCCAGCCTCAGTTTCCTCATCTGTAAAATAAGGATGATGGGGCCTACTTCTCTAGGTGGGAGAGAGGAGACAATTAACTAAAATAAAGGCTGTTAAACATGTGGCACATATTAGTGCTCAATACACATAGGTCCCTTTCCTGTCCCCTTTCCTCTTTCCTACTTCTCTCTGCCATTTATCTGTGCTTTAGTGACCTGTGACTATCTAGGATTTGGCAGTATTACCTCTACTAGTCAGCCTGGTTAGCCTTTCTGATGCTGAATTAAGTCCTGAGACATGCATATCTAGTGGTCCTAAATATTCTAGTCCAGAAGAAGAGGAATTTTGTTCCTTAGCTAAGAATCATTTCAGGGCCAATGCAAGTAAAAAGTAATTTAGCTCCCCCCTCCCCCCGCCCCGCCCGAGAGAGAAAAATATAACACGTCACATTCACTAATATTTAACATTAAGAGCAGGGAACATAAAACTTTATTCACTGCAAGAGCTGCGGTCCTGAGGGAAGAATCCTCTGAACTGAGTCAGCACTGAGCTGAGCGATGGAGCCTCAGGGATGAAAGAATAAAGCAGAGAGCCTGGCGTCCAGGCACAGCGAGACCCAAGGGGCCCTCCCAGTGACAGGAAGAGGTGAGACAGAGGCTGCTGCTTGCTCAGAGGCCCCAGAGCAGCTCCACTGCGCACCCAAGGACTCACCACCTTTACCACTAACAAGCTCTGCCAGTTTAATGTACAGTTACTCTGTACCACGTCCTGGGCTGGGCACTGCAGTTCCTGGGAAAATGACGCAGTCCAGGCCCTTTAGGGGAAGCCTGGGAAGAGGGAACTCAGGGGGATTGGGAGGATGGGGTGGGTGAGGCTCACTCCCTGTCAAGCTGGGCAAAGCGCCGTGTCTGAGAGGCAGGCAGCTAACCGCGAGCCGGCGGCGTTCCATTTACAATCTGGTGAGCCTGTATTGGTATAACTCGTATTGTGAGGCTTTTGAGATATCTTGTGACCTTGTGATTTTCCCCGTCTTTGGTGCTTTTGCCCCCTGTAGTGACAAGCAGTTAAAAAAACAAAAACAGAAAACACTCAGAAGGGCAGTGCTTGCTCAGGGATCTGCAGACAGGGCAGATGTCAAGCTCTCACCCAGTTCTGCTGTCGAATGGGGTGCAGGGAGGGGAAGAGGGACCAGGGCCTAGCAGGACAGGGGCAGCTGCAAGCCCCACCTAGAAGTACCCTGGTATGATAGGCTCTGGCTAGGAGCGCTGCAGTGTCACGAAGGCCCCCAGGGAGAGCTGGATCCCTTTGCCCTGATCCTCAGTCCCAGTCTGGAGCAACCTACAGGCCCTGGAGGAGGGGGCAGGACTCCAGTGCCCTTCCCACGAGGCCCTGCTGTACTGACCTCGAATCTGCAGGTTGGAGAAGGTCTGCACGGGAATGGTGATCCTGAAAGAAAGCAGAGGGAGAGGGCTGCCCGGGCTGCCTGGGACACCCCTAGGCTGGGTCTTGGTGCGGGGCCATCATGACAACTTGAACGCCCTTTTCCTTGCCAGGAAAGTCTAACTCCATCTCCTAGCTTTTTCCCCAGCAGCCAACGTGCTATCTGGAGTTCCAAACGTCTGCAAGGGGCTTGAGTGTTATCTGGGAGGGGCGCATGTCTATCTGAAGGAAGATGGAAAAGGGAGGGGAAAGTGGTGAAGAAAGTTCCAAGGAGGCAGAAGAGATGGGTGAGGTGAGGAGTCCAATCTTGGCTGGGAAGATGGGGAGTATGCCTCTTAGTTTGGAGGGTGACCCAAGTCCTTGGCCTTGAGGCCTAATCAATATTGGTTGAATCCATCCATCCATTCAGTCATCAAACATCTAGTGACTGCCTGCTATGTGTGAGGCAGGCACTGTGCTGGGCATTGAGGTGGGAAGGGATCTGCACACAAGGCTGAAAAAGACTCAGTCCCTGAAGGGAGCAAGATGAGCTCTACCGTGAGGCAGCAGGGAGACTTCCCCAGGGGCTGTGATGAGGGCTCACCCGTTCTCCTCGCCCTCTAGCAGCTTCCTGTAGGTGGCGATCTCGATGTCCAGGGCCAGCTTGACATTGAGCAGGTCCTGGTACTCCTGCAAGTGGCGGGCCATCTCGTCCTTGAGGCTCTGCCCCTCTTCCTCCAGCCGCGCCAGCGCCTCCTGATAACTGGCCGCCTCCCGCACGTGCCGCTCCTCCTGCTCGCGCATCTGCCTCTCCAGGGACTCGTTCTGTGGGATGGAGCCGGCCGGTCCCGCGGAGCCCCGACCCGACTTGGGGAGGTTTCGAGGCCCGGCCCCCGGCCCCAGGCCCCGCCTCTAGCCCGGGGGTAACGTTCAGGCCCCGCCCTCGACCCAGGTCCTCGTCCCTGGCCCTTCTCCCCTGGCATCTCCTGGGGTGGCCGTCCCTGCTCCGCCCGTCCCCGTCCTGCCCTGGCCGCGCTCACCGTGCCGCGCAGAGACTCCAGGTCGCAGGTCAAGGACTGCAACTGGCGCCGGTAGTCGTTGGCTTCGTGCTTGGCCTGGCGGAGCAGCTCCGCGTTGCGGGCAGCAGCGTCTGTCAGGTCTGCAAACTAGGTGGGGGACACATATGGGGGGCTGTGTGGGCCCATGGGCAGGCACGGGCTCTGGGAAATCAGGGAGGTGAGCAGCACCCCAGTTAACCCCAGGACGTTGGCCCTGGCTGGGACTTTTCCCAACAACTGTGACCCATGGATGCGGGCAGGGTAGCGGGCTGCCAGACCTCAGCACCTAGCACAACACCTGGTCAGCAAGCGAATGAATGAACAGTGCCACAGAATCCAGAACCTTCCACACTGACAGCTGCATCTGCGGGACTGAACGCTGTCGTCTTAGGCGAGCGGAGGCCTGGGTGTTTTGTGTGTTTTTGTTTTTTTGTTTTTTTTGTTTTATTTTGAGACAGAGTCTTGCTCTTGTCGCCCAGGTTGGAAGTCAGTGGCACAATCCCGGGTCACTGCAACCTCTGCCTCCCAGGTTCAAGCAATTCTCCTGCCCCAGCCACCTGAGTAGCTGGGATTACAGGCATGCGCCACTACACCCGGCTGATTTTGTATTTTTAGTAGAGACGGGGTTTCACCATGTTGACCAGGCTAGTCTTGAACTGCTGACCTCAGGTGATCCGCATGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACCTCGCCTGGCCTCACCCTGGGTTCTAATAGCCCTTTCTCCCCTGCCTGCAGGGAGGTCCTCCCAGCCCCATCGGGCCCTCACCCTGCTCAGACACCAGTGGCTTCTGCCACTCACACTCCTCAGCTAGGTGCCCTGGCTAGGCTAGCATCTTGGGGCCCTGCCTCTCTGTGCTTTTCTGCCTCCAGGCTCTGTCCTCCACTAGGAATGGCCCTCCCTTCTTCTCTTCCTGTCCACAGCGTGCCTGTCCTGCCTAGCCCAAATGCCCCCTCTACAGTGTCTTTCCTGGCTCCCACACTACATATAAGCTCTGAGCTGTGGTGTTCTCTACGGGCACTATGTTTGGGTGCACGTCAATATCACACCTTCCAGGTCAGACACCTCTCTGTGTCCTGGGGGGTGCCTGGCATATGGTAGAGGCTCAGTAACCCAAAACAGACTGGCAGAGGCATGGAATGCAGGCTCCCAAGTGAGATGTGCTAGAGTTGGAAATCCAACTCTACCACTTAGGAGCTGTGTGACTTTGAGCAAATTAGTTAACCTCTCTGGACTTCGGCTCTCTCATCTGTCAAAGAACAGCACCTACTTCATAGTAAGGTAATCCATGAAAAGCACAGGGCTTAGAACAGAACAGTATCAGCTACTACTAATAATAGCAATAGTAGCAGTAATAATAATGGGTACTTTTGAAAGCAATAGTGCCTGTGTGACCCTGGGCAAGCCATCTCACTTCTCTGGTGAAAGTCAGTCACCTGGAGAGGATATTCTCCCAGCTTCCTCCACCCTCCTTCCCCCATTCTCTTGTACAGAGCAAGAAGGGCTGCCTGGAGGAGGCAGGCTGGCCCACAGGCAGGGCTACCTTGGAGCGGTACCAC
Task1_train_24757
A genetic alteration is present in LOC130060994, GFAP (ATAC-STARR-seq lymphoblastoid active region 12266| glial fibrillary acidic protein) on Chromosome 17. Is this variant benign or disease-causing, and if the latter, which condition is involved?
Pathogenic; not provided
CCAGCCACATGACTCTGGGCAAGTTAATTGACCTCTCCCAGCCTCAGTTTCCTCATCTGTAAAATAAGGATGATGGGGCCTACTTCTCTAGGTGGGAGAGAGGAGACAATTAACTAAAATAAAGGCTGTTAAACATGTGGCACATATTAGTGCTCAATACACATAGGTCCCTTTCCTGTCCCCTTTCCTCTTTCCTACTTCTCTCTGCCATTTATCTGTGCTTTAGTGACCTGTGACTATCTAGGATTTGGCAGTATTACCTCTACTAGTCAGCCTGGTTAGCCTTTCTGATGCTGAATTAAGTCCTGAGACATGCATATCTAGTGGTCCTAAATATTCTAGTCCAGAAGAAGAGGAATTTTGTTCCTTAGCTAAGAATCATTTCAGGGCCAATGCAAGTAAAAAGTAATTTAGCTCCCCCCTCCCCCCGCCCCGCCCGAGAGAGAAAAATATAACACGTCACATTCACTAATATTTAACATTAAGAGCAGGGAACATAAAACTTTATTCACTGCAAGAGCTGCGGTCCTGAGGGAAGAATCCTCTGAACTGAGTCAGCACTGAGCTGAGCGATGGAGCCTCAGGGATGAAAGAATAAAGCAGAGAGCCTGGCGTCCAGGCACAGCGAGACCCAAGGGGCCCTCCCAGTGACAGGAAGAGGTGAGACAGAGGCTGCTGCTTGCTCAGAGGCCCCAGAGCAGCTCCACTGCGCACCCAAGGACTCACCACCTTTACCACTAACAAGCTCTGCCAGTTTAATGTACAGTTACTCTGTACCACGTCCTGGGCTGGGCACTGCAGTTCCTGGGAAAATGACGCAGTCCAGGCCCTTTAGGGGAAGCCTGGGAAGAGGGAACTCAGGGGGATTGGGAGGATGGGGTGGGTGAGGCTCACTCCCTGTCAAGCTGGGCAAAGCGCCGTGTCTGAGAGGCAGGCAGCTAACCGCGAGCCGGCGGCGTTCCATTTACAATCTGGTGAGCCTGTATTGGTATAACTCGTATTGTGAGGCTTTTGAGATATCTTGTGACCTTGTGATTTTCCCCGTCTTTGGTGCTTTTGCCCCCTGTAGTGACAAGCAGTTAAAAAAACAAAAACAGAAAACACTCAGAAGGGCAGTGCTTGCTCAGGGATCTGCAGACAGGGCAGATGTCAAGCTCTCACCCAGTTCTGCTGTCGAATGGGGTGCAGGGAGGGGAAGAGGGACCAGGGCCTAGCAGGACAGGGGCAGCTGCAAGCCCCACCTAGAAGTACCCTGGTATGATAGGCTCTGGCTAGGAGCGCTGCAGTGTCACGAAGGCCCCCAGGGAGAGCTGGATCCCTTTGCCCTGATCCTCAGTCCCAGTCTGGAGCAACCTACAGGCCCTGGAGGAGGGGGCAGGACTCCAGTGCCCTTCCCACGAGGCCCTGCTGTACTGACCTCGAATCTGCAGGTTGGAGAAGGTCTGCACGGGAATGGTGATCCTGAAAGAAAGCAGAGGGAGAGGGCTGCCCGGGCTGCCTGGGACACCCCTAGGCTGGGTCTTGGTGCGGGGCCATCATGACAACTTGAACGCCCTTTTCCTTGCCAGGAAAGTCTAACTCCATCTCCTAGCTTTTTCCCCAGCAGCCAACGTGCTATCTGGAGTTCCAAACGTCTGCAAGGGGCTTGAGTGTTATCTGGGAGGGGCGCATGTCTATCTGAAGGAAGATGGAAAAGGGAGGGGAAAGTGGTGAAGAAAGTTCCAAGGAGGCAGAAGAGATGGGTGAGGTGAGGAGTCCAATCTTGGCTGGGAAGATGGGGAGTATGCCTCTTAGTTTGGAGGGTGACCCAAGTCCTTGGCCTTGAGGCCTAATCAATATTGGTTGAATCCATCCATCCATTCAGTCATCAAACATCTAGTGACTGCCTGCTATGTGTGAGGCAGGCACTGTGCTGGGCATTGAGGTGGGAAGGGATCTGCACACAAGGCTGAAAAAGACTCAGTCCCTGAAGGGAGCAAGATGAGCTCTACCGTGAGGCAGCAGGGAGACTTCCCCAGGGGCTGTGATGAGGGCTCACCGGTTCTCCTCGCCCTCTAGCAGCTTCCTGTAGGTGGCGATCTCGATGTCCAGGGCCAGCTTGACATTGAGCAGGTCCTGGTACTCCTGCAAGTGGCGGGCCATCTCGTCCTTGAGGCTCTGCCCCTCTTCCTCCAGCCGCGCCAGCGCCTCCTGATAACTGGCCGCCTCCCGCACGTGCCGCTCCTCCTGCTCGCGCATCTGCCTCTCCAGGGACTCGTTCTGTGGGATGGAGCCGGCCGGTCCCGCGGAGCCCCGACCCGACTTGGGGAGGTTTCGAGGCCCGGCCCCCGGCCCCAGGCCCCGCCTCTAGCCCGGGGGTAACGTTCAGGCCCCGCCCTCGACCCAGGTCCTCGTCCCTGGCCCTTCTCCCCTGGCATCTCCTGGGGTGGCCGTCCCTGCTCCGCCCGTCCCCGTCCTGCCCTGGCCGCGCTCACCGTGCCGCGCAGAGACTCCAGGTCGCAGGTCAAGGACTGCAACTGGCGCCGGTAGTCGTTGGCTTCGTGCTTGGCCTGGCGGAGCAGCTCCGCGTTGCGGGCAGCAGCGTCTGTCAGGTCTGCAAACTAGGTGGGGGACACATATGGGGGGCTGTGTGGGCCCATGGGCAGGCACGGGCTCTGGGAAATCAGGGAGGTGAGCAGCACCCCAGTTAACCCCAGGACGTTGGCCCTGGCTGGGACTTTTCCCAACAACTGTGACCCATGGATGCGGGCAGGGTAGCGGGCTGCCAGACCTCAGCACCTAGCACAACACCTGGTCAGCAAGCGAATGAATGAACAGTGCCACAGAATCCAGAACCTTCCACACTGACAGCTGCATCTGCGGGACTGAACGCTGTCGTCTTAGGCGAGCGGAGGCCTGGGTGTTTTGTGTGTTTTTGTTTTTTTGTTTTTTTTGTTTTATTTTGAGACAGAGTCTTGCTCTTGTCGCCCAGGTTGGAAGTCAGTGGCACAATCCCGGGTCACTGCAACCTCTGCCTCCCAGGTTCAAGCAATTCTCCTGCCCCAGCCACCTGAGTAGCTGGGATTACAGGCATGCGCCACTACACCCGGCTGATTTTGTATTTTTAGTAGAGACGGGGTTTCACCATGTTGACCAGGCTAGTCTTGAACTGCTGACCTCAGGTGATCCGCATGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACCTCGCCTGGCCTCACCCTGGGTTCTAATAGCCCTTTCTCCCCTGCCTGCAGGGAGGTCCTCCCAGCCCCATCGGGCCCTCACCCTGCTCAGACACCAGTGGCTTCTGCCACTCACACTCCTCAGCTAGGTGCCCTGGCTAGGCTAGCATCTTGGGGCCCTGCCTCTCTGTGCTTTTCTGCCTCCAGGCTCTGTCCTCCACTAGGAATGGCCCTCCCTTCTTCTCTTCCTGTCCACAGCGTGCCTGTCCTGCCTAGCCCAAATGCCCCCTCTACAGTGTCTTTCCTGGCTCCCACACTACATATAAGCTCTGAGCTGTGGTGTTCTCTACGGGCACTATGTTTGGGTGCACGTCAATATCACACCTTCCAGGTCAGACACCTCTCTGTGTCCTGGGGGGTGCCTGGCATATGGTAGAGGCTCAGTAACCCAAAACAGACTGGCAGAGGCATGGAATGCAGGCTCCCAAGTGAGATGTGCTAGAGTTGGAAATCCAACTCTACCACTTAGGAGCTGTGTGACTTTGAGCAAATTAGTTAACCTCTCTGGACTTCGGCTCTCTCATCTGTCAAAGAACAGCACCTACTTCATAGTAAGGTAATCCATGAAAAGCACAGGGCTTAGAACAGAACAGTATCAGCTACTACTAATAATAGCAATAGTAGCAGTAATAATAATGGGTACTTTTGAAAGCAATAGTGCCTGTGTGACCCTGGGCAAGCCATCTCACTTCTCTGGTGAAAGTCAGTCACCTGGAGAGGATATTCTCCCAGCTTCCTCCACCCTCCTTCCCCCATTCTCTTGTACAGAGCAAGAAGGGCTGCCTGGAGGAGGCAGGCTGGCCCACAGGCAGGGCTACCTTGGAGCGGTACCACTCTTCGGCT
CCAGCCACATGACTCTGGGCAAGTTAATTGACCTCTCCCAGCCTCAGTTTCCTCATCTGTAAAATAAGGATGATGGGGCCTACTTCTCTAGGTGGGAGAGAGGAGACAATTAACTAAAATAAAGGCTGTTAAACATGTGGCACATATTAGTGCTCAATACACATAGGTCCCTTTCCTGTCCCCTTTCCTCTTTCCTACTTCTCTCTGCCATTTATCTGTGCTTTAGTGACCTGTGACTATCTAGGATTTGGCAGTATTACCTCTACTAGTCAGCCTGGTTAGCCTTTCTGATGCTGAATTAAGTCCTGAGACATGCATATCTAGTGGTCCTAAATATTCTAGTCCAGAAGAAGAGGAATTTTGTTCCTTAGCTAAGAATCATTTCAGGGCCAATGCAAGTAAAAAGTAATTTAGCTCCCCCCTCCCCCCGCCCCGCCCGAGAGAGAAAAATATAACACGTCACATTCACTAATATTTAACATTAAGAGCAGGGAACATAAAACTTTATTCACTGCAAGAGCTGCGGTCCTGAGGGAAGAATCCTCTGAACTGAGTCAGCACTGAGCTGAGCGATGGAGCCTCAGGGATGAAAGAATAAAGCAGAGAGCCTGGCGTCCAGGCACAGCGAGACCCAAGGGGCCCTCCCAGTGACAGGAAGAGGTGAGACAGAGGCTGCTGCTTGCTCAGAGGCCCCAGAGCAGCTCCACTGCGCACCCAAGGACTCACCACCTTTACCACTAACAAGCTCTGCCAGTTTAATGTACAGTTACTCTGTACCACGTCCTGGGCTGGGCACTGCAGTTCCTGGGAAAATGACGCAGTCCAGGCCCTTTAGGGGAAGCCTGGGAAGAGGGAACTCAGGGGGATTGGGAGGATGGGGTGGGTGAGGCTCACTCCCTGTCAAGCTGGGCAAAGCGCCGTGTCTGAGAGGCAGGCAGCTAACCGCGAGCCGGCGGCGTTCCATTTACAATCTGGTGAGCCTGTATTGGTATAACTCGTATTGTGAGGCTTTTGAGATATCTTGTGACCTTGTGATTTTCCCCGTCTTTGGTGCTTTTGCCCCCTGTAGTGACAAGCAGTTAAAAAAACAAAAACAGAAAACACTCAGAAGGGCAGTGCTTGCTCAGGGATCTGCAGACAGGGCAGATGTCAAGCTCTCACCCAGTTCTGCTGTCGAATGGGGTGCAGGGAGGGGAAGAGGGACCAGGGCCTAGCAGGACAGGGGCAGCTGCAAGCCCCACCTAGAAGTACCCTGGTATGATAGGCTCTGGCTAGGAGCGCTGCAGTGTCACGAAGGCCCCCAGGGAGAGCTGGATCCCTTTGCCCTGATCCTCAGTCCCAGTCTGGAGCAACCTACAGGCCCTGGAGGAGGGGGCAGGACTCCAGTGCCCTTCCCACGAGGCCCTGCTGTACTGACCTCGAATCTGCAGGTTGGAGAAGGTCTGCACGGGAATGGTGATCCTGAAAGAAAGCAGAGGGAGAGGGCTGCCCGGGCTGCCTGGGACACCCCTAGGCTGGGTCTTGGTGCGGGGCCATCATGACAACTTGAACGCCCTTTTCCTTGCCAGGAAAGTCTAACTCCATCTCCTAGCTTTTTCCCCAGCAGCCAACGTGCTATCTGGAGTTCCAAACGTCTGCAAGGGGCTTGAGTGTTATCTGGGAGGGGCGCATGTCTATCTGAAGGAAGATGGAAAAGGGAGGGGAAAGTGGTGAAGAAAGTTCCAAGGAGGCAGAAGAGATGGGTGAGGTGAGGAGTCCAATCTTGGCTGGGAAGATGGGGAGTATGCCTCTTAGTTTGGAGGGTGACCCAAGTCCTTGGCCTTGAGGCCTAATCAATATTGGTTGAATCCATCCATCCATTCAGTCATCAAACATCTAGTGACTGCCTGCTATGTGTGAGGCAGGCACTGTGCTGGGCATTGAGGTGGGAAGGGATCTGCACACAAGGCTGAAAAAGACTCAGTCCCTGAAGGGAGCAAGATGAGCTCTACCGTGAGGCAGCAGGGAGACTTCCCCAGGGGCTGTGATGAGGGCTCACCGGTTCTCCTTGCCCTCTAGCAGCTTCCTGTAGGTGGCGATCTCGATGTCCAGGGCCAGCTTGACATTGAGCAGGTCCTGGTACTCCTGCAAGTGGCGGGCCATCTCGTCCTTGAGGCTCTGCCCCTCTTCCTCCAGCCGCGCCAGCGCCTCCTGATAACTGGCCGCCTCCCGCACGTGCCGCTCCTCCTGCTCGCGCATCTGCCTCTCCAGGGACTCGTTCTGTGGGATGGAGCCGGCCGGTCCCGCGGAGCCCCGACCCGACTTGGGGAGGTTTCGAGGCCCGGCCCCCGGCCCCAGGCCCCGCCTCTAGCCCGGGGGTAACGTTCAGGCCCCGCCCTCGACCCAGGTCCTCGTCCCTGGCCCTTCTCCCCTGGCATCTCCTGGGGTGGCCGTCCCTGCTCCGCCCGTCCCCGTCCTGCCCTGGCCGCGCTCACCGTGCCGCGCAGAGACTCCAGGTCGCAGGTCAAGGACTGCAACTGGCGCCGGTAGTCGTTGGCTTCGTGCTTGGCCTGGCGGAGCAGCTCCGCGTTGCGGGCAGCAGCGTCTGTCAGGTCTGCAAACTAGGTGGGGGACACATATGGGGGGCTGTGTGGGCCCATGGGCAGGCACGGGCTCTGGGAAATCAGGGAGGTGAGCAGCACCCCAGTTAACCCCAGGACGTTGGCCCTGGCTGGGACTTTTCCCAACAACTGTGACCCATGGATGCGGGCAGGGTAGCGGGCTGCCAGACCTCAGCACCTAGCACAACACCTGGTCAGCAAGCGAATGAATGAACAGTGCCACAGAATCCAGAACCTTCCACACTGACAGCTGCATCTGCGGGACTGAACGCTGTCGTCTTAGGCGAGCGGAGGCCTGGGTGTTTTGTGTGTTTTTGTTTTTTTGTTTTTTTTGTTTTATTTTGAGACAGAGTCTTGCTCTTGTCGCCCAGGTTGGAAGTCAGTGGCACAATCCCGGGTCACTGCAACCTCTGCCTCCCAGGTTCAAGCAATTCTCCTGCCCCAGCCACCTGAGTAGCTGGGATTACAGGCATGCGCCACTACACCCGGCTGATTTTGTATTTTTAGTAGAGACGGGGTTTCACCATGTTGACCAGGCTAGTCTTGAACTGCTGACCTCAGGTGATCCGCATGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACCTCGCCTGGCCTCACCCTGGGTTCTAATAGCCCTTTCTCCCCTGCCTGCAGGGAGGTCCTCCCAGCCCCATCGGGCCCTCACCCTGCTCAGACACCAGTGGCTTCTGCCACTCACACTCCTCAGCTAGGTGCCCTGGCTAGGCTAGCATCTTGGGGCCCTGCCTCTCTGTGCTTTTCTGCCTCCAGGCTCTGTCCTCCACTAGGAATGGCCCTCCCTTCTTCTCTTCCTGTCCACAGCGTGCCTGTCCTGCCTAGCCCAAATGCCCCCTCTACAGTGTCTTTCCTGGCTCCCACACTACATATAAGCTCTGAGCTGTGGTGTTCTCTACGGGCACTATGTTTGGGTGCACGTCAATATCACACCTTCCAGGTCAGACACCTCTCTGTGTCCTGGGGGGTGCCTGGCATATGGTAGAGGCTCAGTAACCCAAAACAGACTGGCAGAGGCATGGAATGCAGGCTCCCAAGTGAGATGTGCTAGAGTTGGAAATCCAACTCTACCACTTAGGAGCTGTGTGACTTTGAGCAAATTAGTTAACCTCTCTGGACTTCGGCTCTCTCATCTGTCAAAGAACAGCACCTACTTCATAGTAAGGTAATCCATGAAAAGCACAGGGCTTAGAACAGAACAGTATCAGCTACTACTAATAATAGCAATAGTAGCAGTAATAATAATGGGTACTTTTGAAAGCAATAGTGCCTGTGTGACCCTGGGCAAGCCATCTCACTTCTCTGGTGAAAGTCAGTCACCTGGAGAGGATATTCTCCCAGCTTCCTCCACCCTCCTTCCCCCATTCTCTTGTACAGAGCAAGAAGGGCTGCCTGGAGGAGGCAGGCTGGCCCACAGGCAGGGCTACCTTGGAGCGGTACCACTCTTCGGCT
Task1_train_24758
Here is a mutation in GFAP, LOC130060994 (glial fibrillary acidic protein| ATAC-STARR-seq lymphoblastoid active region 12266) on Chromosome 17. Determine whether it’s benign or pathogenic. If the latter, what disease does it cause?
Pathogenic; not provided
AGTTAATTGACCTCTCCCAGCCTCAGTTTCCTCATCTGTAAAATAAGGATGATGGGGCCTACTTCTCTAGGTGGGAGAGAGGAGACAATTAACTAAAATAAAGGCTGTTAAACATGTGGCACATATTAGTGCTCAATACACATAGGTCCCTTTCCTGTCCCCTTTCCTCTTTCCTACTTCTCTCTGCCATTTATCTGTGCTTTAGTGACCTGTGACTATCTAGGATTTGGCAGTATTACCTCTACTAGTCAGCCTGGTTAGCCTTTCTGATGCTGAATTAAGTCCTGAGACATGCATATCTAGTGGTCCTAAATATTCTAGTCCAGAAGAAGAGGAATTTTGTTCCTTAGCTAAGAATCATTTCAGGGCCAATGCAAGTAAAAAGTAATTTAGCTCCCCCCTCCCCCCGCCCCGCCCGAGAGAGAAAAATATAACACGTCACATTCACTAATATTTAACATTAAGAGCAGGGAACATAAAACTTTATTCACTGCAAGAGCTGCGGTCCTGAGGGAAGAATCCTCTGAACTGAGTCAGCACTGAGCTGAGCGATGGAGCCTCAGGGATGAAAGAATAAAGCAGAGAGCCTGGCGTCCAGGCACAGCGAGACCCAAGGGGCCCTCCCAGTGACAGGAAGAGGTGAGACAGAGGCTGCTGCTTGCTCAGAGGCCCCAGAGCAGCTCCACTGCGCACCCAAGGACTCACCACCTTTACCACTAACAAGCTCTGCCAGTTTAATGTACAGTTACTCTGTACCACGTCCTGGGCTGGGCACTGCAGTTCCTGGGAAAATGACGCAGTCCAGGCCCTTTAGGGGAAGCCTGGGAAGAGGGAACTCAGGGGGATTGGGAGGATGGGGTGGGTGAGGCTCACTCCCTGTCAAGCTGGGCAAAGCGCCGTGTCTGAGAGGCAGGCAGCTAACCGCGAGCCGGCGGCGTTCCATTTACAATCTGGTGAGCCTGTATTGGTATAACTCGTATTGTGAGGCTTTTGAGATATCTTGTGACCTTGTGATTTTCCCCGTCTTTGGTGCTTTTGCCCCCTGTAGTGACAAGCAGTTAAAAAAACAAAAACAGAAAACACTCAGAAGGGCAGTGCTTGCTCAGGGATCTGCAGACAGGGCAGATGTCAAGCTCTCACCCAGTTCTGCTGTCGAATGGGGTGCAGGGAGGGGAAGAGGGACCAGGGCCTAGCAGGACAGGGGCAGCTGCAAGCCCCACCTAGAAGTACCCTGGTATGATAGGCTCTGGCTAGGAGCGCTGCAGTGTCACGAAGGCCCCCAGGGAGAGCTGGATCCCTTTGCCCTGATCCTCAGTCCCAGTCTGGAGCAACCTACAGGCCCTGGAGGAGGGGGCAGGACTCCAGTGCCCTTCCCACGAGGCCCTGCTGTACTGACCTCGAATCTGCAGGTTGGAGAAGGTCTGCACGGGAATGGTGATCCTGAAAGAAAGCAGAGGGAGAGGGCTGCCCGGGCTGCCTGGGACACCCCTAGGCTGGGTCTTGGTGCGGGGCCATCATGACAACTTGAACGCCCTTTTCCTTGCCAGGAAAGTCTAACTCCATCTCCTAGCTTTTTCCCCAGCAGCCAACGTGCTATCTGGAGTTCCAAACGTCTGCAAGGGGCTTGAGTGTTATCTGGGAGGGGCGCATGTCTATCTGAAGGAAGATGGAAAAGGGAGGGGAAAGTGGTGAAGAAAGTTCCAAGGAGGCAGAAGAGATGGGTGAGGTGAGGAGTCCAATCTTGGCTGGGAAGATGGGGAGTATGCCTCTTAGTTTGGAGGGTGACCCAAGTCCTTGGCCTTGAGGCCTAATCAATATTGGTTGAATCCATCCATCCATTCAGTCATCAAACATCTAGTGACTGCCTGCTATGTGTGAGGCAGGCACTGTGCTGGGCATTGAGGTGGGAAGGGATCTGCACACAAGGCTGAAAAAGACTCAGTCCCTGAAGGGAGCAAGATGAGCTCTACCGTGAGGCAGCAGGGAGACTTCCCCAGGGGCTGTGATGAGGGCTCACCGGTTCTCCTCGCCCTCTAGCAGCTTCCTGTAGGTGGCGATCTCGATGTCCAGGGCCAGCTTGACATTGAGCAGGTCCTGGTACTCCTGCAAGTGGCGGGCCATCTCGTCCTTGAGGCTCTGCCCCTCTTCCTCCAGCCGCGCCAGCGCCTCCTGATAACTGGCCGCCTCCCGCACGTGCCGCTCCTCCTGCTCGCGCATCTGCCTCTCCAGGGACTCGTTCTGTGGGATGGAGCCGGCCGGTCCCGCGGAGCCCCGACCCGACTTGGGGAGGTTTCGAGGCCCGGCCCCCGGCCCCAGGCCCCGCCTCTAGCCCGGGGGTAACGTTCAGGCCCCGCCCTCGACCCAGGTCCTCGTCCCTGGCCCTTCTCCCCTGGCATCTCCTGGGGTGGCCGTCCCTGCTCCGCCCGTCCCCGTCCTGCCCTGGCCGCGCTCACCGTGCCGCGCAGAGACTCCAGGTCGCAGGTCAAGGACTGCAACTGGCGCCGGTAGTCGTTGGCTTCGTGCTTGGCCTGGCGGAGCAGCTCCGCGTTGCGGGCAGCAGCGTCTGTCAGGTCTGCAAACTAGGTGGGGGACACATATGGGGGGCTGTGTGGGCCCATGGGCAGGCACGGGCTCTGGGAAATCAGGGAGGTGAGCAGCACCCCAGTTAACCCCAGGACGTTGGCCCTGGCTGGGACTTTTCCCAACAACTGTGACCCATGGATGCGGGCAGGGTAGCGGGCTGCCAGACCTCAGCACCTAGCACAACACCTGGTCAGCAAGCGAATGAATGAACAGTGCCACAGAATCCAGAACCTTCCACACTGACAGCTGCATCTGCGGGACTGAACGCTGTCGTCTTAGGCGAGCGGAGGCCTGGGTGTTTTGTGTGTTTTTGTTTTTTTGTTTTTTTTGTTTTATTTTGAGACAGAGTCTTGCTCTTGTCGCCCAGGTTGGAAGTCAGTGGCACAATCCCGGGTCACTGCAACCTCTGCCTCCCAGGTTCAAGCAATTCTCCTGCCCCAGCCACCTGAGTAGCTGGGATTACAGGCATGCGCCACTACACCCGGCTGATTTTGTATTTTTAGTAGAGACGGGGTTTCACCATGTTGACCAGGCTAGTCTTGAACTGCTGACCTCAGGTGATCCGCATGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACCTCGCCTGGCCTCACCCTGGGTTCTAATAGCCCTTTCTCCCCTGCCTGCAGGGAGGTCCTCCCAGCCCCATCGGGCCCTCACCCTGCTCAGACACCAGTGGCTTCTGCCACTCACACTCCTCAGCTAGGTGCCCTGGCTAGGCTAGCATCTTGGGGCCCTGCCTCTCTGTGCTTTTCTGCCTCCAGGCTCTGTCCTCCACTAGGAATGGCCCTCCCTTCTTCTCTTCCTGTCCACAGCGTGCCTGTCCTGCCTAGCCCAAATGCCCCCTCTACAGTGTCTTTCCTGGCTCCCACACTACATATAAGCTCTGAGCTGTGGTGTTCTCTACGGGCACTATGTTTGGGTGCACGTCAATATCACACCTTCCAGGTCAGACACCTCTCTGTGTCCTGGGGGGTGCCTGGCATATGGTAGAGGCTCAGTAACCCAAAACAGACTGGCAGAGGCATGGAATGCAGGCTCCCAAGTGAGATGTGCTAGAGTTGGAAATCCAACTCTACCACTTAGGAGCTGTGTGACTTTGAGCAAATTAGTTAACCTCTCTGGACTTCGGCTCTCTCATCTGTCAAAGAACAGCACCTACTTCATAGTAAGGTAATCCATGAAAAGCACAGGGCTTAGAACAGAACAGTATCAGCTACTACTAATAATAGCAATAGTAGCAGTAATAATAATGGGTACTTTTGAAAGCAATAGTGCCTGTGTGACCCTGGGCAAGCCATCTCACTTCTCTGGTGAAAGTCAGTCACCTGGAGAGGATATTCTCCCAGCTTCCTCCACCCTCCTTCCCCCATTCTCTTGTACAGAGCAAGAAGGGCTGCCTGGAGGAGGCAGGCTGGCCCACAGGCAGGGCTACCTTGGAGCGGTACCACTCTTCGGCTTCATGCATGTTGCTGGACGCC
AGTTAATTGACCTCTCCCAGCCTCAGTTTCCTCATCTGTAAAATAAGGATGATGGGGCCTACTTCTCTAGGTGGGAGAGAGGAGACAATTAACTAAAATAAAGGCTGTTAAACATGTGGCACATATTAGTGCTCAATACACATAGGTCCCTTTCCTGTCCCCTTTCCTCTTTCCTACTTCTCTCTGCCATTTATCTGTGCTTTAGTGACCTGTGACTATCTAGGATTTGGCAGTATTACCTCTACTAGTCAGCCTGGTTAGCCTTTCTGATGCTGAATTAAGTCCTGAGACATGCATATCTAGTGGTCCTAAATATTCTAGTCCAGAAGAAGAGGAATTTTGTTCCTTAGCTAAGAATCATTTCAGGGCCAATGCAAGTAAAAAGTAATTTAGCTCCCCCCTCCCCCCGCCCCGCCCGAGAGAGAAAAATATAACACGTCACATTCACTAATATTTAACATTAAGAGCAGGGAACATAAAACTTTATTCACTGCAAGAGCTGCGGTCCTGAGGGAAGAATCCTCTGAACTGAGTCAGCACTGAGCTGAGCGATGGAGCCTCAGGGATGAAAGAATAAAGCAGAGAGCCTGGCGTCCAGGCACAGCGAGACCCAAGGGGCCCTCCCAGTGACAGGAAGAGGTGAGACAGAGGCTGCTGCTTGCTCAGAGGCCCCAGAGCAGCTCCACTGCGCACCCAAGGACTCACCACCTTTACCACTAACAAGCTCTGCCAGTTTAATGTACAGTTACTCTGTACCACGTCCTGGGCTGGGCACTGCAGTTCCTGGGAAAATGACGCAGTCCAGGCCCTTTAGGGGAAGCCTGGGAAGAGGGAACTCAGGGGGATTGGGAGGATGGGGTGGGTGAGGCTCACTCCCTGTCAAGCTGGGCAAAGCGCCGTGTCTGAGAGGCAGGCAGCTAACCGCGAGCCGGCGGCGTTCCATTTACAATCTGGTGAGCCTGTATTGGTATAACTCGTATTGTGAGGCTTTTGAGATATCTTGTGACCTTGTGATTTTCCCCGTCTTTGGTGCTTTTGCCCCCTGTAGTGACAAGCAGTTAAAAAAACAAAAACAGAAAACACTCAGAAGGGCAGTGCTTGCTCAGGGATCTGCAGACAGGGCAGATGTCAAGCTCTCACCCAGTTCTGCTGTCGAATGGGGTGCAGGGAGGGGAAGAGGGACCAGGGCCTAGCAGGACAGGGGCAGCTGCAAGCCCCACCTAGAAGTACCCTGGTATGATAGGCTCTGGCTAGGAGCGCTGCAGTGTCACGAAGGCCCCCAGGGAGAGCTGGATCCCTTTGCCCTGATCCTCAGTCCCAGTCTGGAGCAACCTACAGGCCCTGGAGGAGGGGGCAGGACTCCAGTGCCCTTCCCACGAGGCCCTGCTGTACTGACCTCGAATCTGCAGGTTGGAGAAGGTCTGCACGGGAATGGTGATCCTGAAAGAAAGCAGAGGGAGAGGGCTGCCCGGGCTGCCTGGGACACCCCTAGGCTGGGTCTTGGTGCGGGGCCATCATGACAACTTGAACGCCCTTTTCCTTGCCAGGAAAGTCTAACTCCATCTCCTAGCTTTTTCCCCAGCAGCCAACGTGCTATCTGGAGTTCCAAACGTCTGCAAGGGGCTTGAGTGTTATCTGGGAGGGGCGCATGTCTATCTGAAGGAAGATGGAAAAGGGAGGGGAAAGTGGTGAAGAAAGTTCCAAGGAGGCAGAAGAGATGGGTGAGGTGAGGAGTCCAATCTTGGCTGGGAAGATGGGGAGTATGCCTCTTAGTTTGGAGGGTGACCCAAGTCCTTGGCCTTGAGGCCTAATCAATATTGGTTGAATCCATCCATCCATTCAGTCATCAAACATCTAGTGACTGCCTGCTATGTGTGAGGCAGGCACTGTGCTGGGCATTGAGGTGGGAAGGGATCTGCACACAAGGCTGAAAAAGACTCAGTCCCTGAAGGGAGCAAGATGAGCTCTACCGTGAGGCAGCAGGGAGACTTCCCCAGGGGCTGTGATGAGGGCTCACCGGTTCTCCTCGCCCTCTAGCAGCTTCCTGTGGGTGGCGATCTCGATGTCCAGGGCCAGCTTGACATTGAGCAGGTCCTGGTACTCCTGCAAGTGGCGGGCCATCTCGTCCTTGAGGCTCTGCCCCTCTTCCTCCAGCCGCGCCAGCGCCTCCTGATAACTGGCCGCCTCCCGCACGTGCCGCTCCTCCTGCTCGCGCATCTGCCTCTCCAGGGACTCGTTCTGTGGGATGGAGCCGGCCGGTCCCGCGGAGCCCCGACCCGACTTGGGGAGGTTTCGAGGCCCGGCCCCCGGCCCCAGGCCCCGCCTCTAGCCCGGGGGTAACGTTCAGGCCCCGCCCTCGACCCAGGTCCTCGTCCCTGGCCCTTCTCCCCTGGCATCTCCTGGGGTGGCCGTCCCTGCTCCGCCCGTCCCCGTCCTGCCCTGGCCGCGCTCACCGTGCCGCGCAGAGACTCCAGGTCGCAGGTCAAGGACTGCAACTGGCGCCGGTAGTCGTTGGCTTCGTGCTTGGCCTGGCGGAGCAGCTCCGCGTTGCGGGCAGCAGCGTCTGTCAGGTCTGCAAACTAGGTGGGGGACACATATGGGGGGCTGTGTGGGCCCATGGGCAGGCACGGGCTCTGGGAAATCAGGGAGGTGAGCAGCACCCCAGTTAACCCCAGGACGTTGGCCCTGGCTGGGACTTTTCCCAACAACTGTGACCCATGGATGCGGGCAGGGTAGCGGGCTGCCAGACCTCAGCACCTAGCACAACACCTGGTCAGCAAGCGAATGAATGAACAGTGCCACAGAATCCAGAACCTTCCACACTGACAGCTGCATCTGCGGGACTGAACGCTGTCGTCTTAGGCGAGCGGAGGCCTGGGTGTTTTGTGTGTTTTTGTTTTTTTGTTTTTTTTGTTTTATTTTGAGACAGAGTCTTGCTCTTGTCGCCCAGGTTGGAAGTCAGTGGCACAATCCCGGGTCACTGCAACCTCTGCCTCCCAGGTTCAAGCAATTCTCCTGCCCCAGCCACCTGAGTAGCTGGGATTACAGGCATGCGCCACTACACCCGGCTGATTTTGTATTTTTAGTAGAGACGGGGTTTCACCATGTTGACCAGGCTAGTCTTGAACTGCTGACCTCAGGTGATCCGCATGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACCTCGCCTGGCCTCACCCTGGGTTCTAATAGCCCTTTCTCCCCTGCCTGCAGGGAGGTCCTCCCAGCCCCATCGGGCCCTCACCCTGCTCAGACACCAGTGGCTTCTGCCACTCACACTCCTCAGCTAGGTGCCCTGGCTAGGCTAGCATCTTGGGGCCCTGCCTCTCTGTGCTTTTCTGCCTCCAGGCTCTGTCCTCCACTAGGAATGGCCCTCCCTTCTTCTCTTCCTGTCCACAGCGTGCCTGTCCTGCCTAGCCCAAATGCCCCCTCTACAGTGTCTTTCCTGGCTCCCACACTACATATAAGCTCTGAGCTGTGGTGTTCTCTACGGGCACTATGTTTGGGTGCACGTCAATATCACACCTTCCAGGTCAGACACCTCTCTGTGTCCTGGGGGGTGCCTGGCATATGGTAGAGGCTCAGTAACCCAAAACAGACTGGCAGAGGCATGGAATGCAGGCTCCCAAGTGAGATGTGCTAGAGTTGGAAATCCAACTCTACCACTTAGGAGCTGTGTGACTTTGAGCAAATTAGTTAACCTCTCTGGACTTCGGCTCTCTCATCTGTCAAAGAACAGCACCTACTTCATAGTAAGGTAATCCATGAAAAGCACAGGGCTTAGAACAGAACAGTATCAGCTACTACTAATAATAGCAATAGTAGCAGTAATAATAATGGGTACTTTTGAAAGCAATAGTGCCTGTGTGACCCTGGGCAAGCCATCTCACTTCTCTGGTGAAAGTCAGTCACCTGGAGAGGATATTCTCCCAGCTTCCTCCACCCTCCTTCCCCCATTCTCTTGTACAGAGCAAGAAGGGCTGCCTGGAGGAGGCAGGCTGGCCCACAGGCAGGGCTACCTTGGAGCGGTACCACTCTTCGGCTTCATGCATGTTGCTGGACGCC
Task1_train_24759
Chromosome 17 houses a mutation in gene GFAP, LOC130060994 (glial fibrillary acidic protein| ATAC-STARR-seq lymphoblastoid active region 12266). Classify its clinical impact — is it pathogenic or benign, and what disease does it lead to if any?
Pathogenic; Alexander disease
ACCTCTCCCAGCCTCAGTTTCCTCATCTGTAAAATAAGGATGATGGGGCCTACTTCTCTAGGTGGGAGAGAGGAGACAATTAACTAAAATAAAGGCTGTTAAACATGTGGCACATATTAGTGCTCAATACACATAGGTCCCTTTCCTGTCCCCTTTCCTCTTTCCTACTTCTCTCTGCCATTTATCTGTGCTTTAGTGACCTGTGACTATCTAGGATTTGGCAGTATTACCTCTACTAGTCAGCCTGGTTAGCCTTTCTGATGCTGAATTAAGTCCTGAGACATGCATATCTAGTGGTCCTAAATATTCTAGTCCAGAAGAAGAGGAATTTTGTTCCTTAGCTAAGAATCATTTCAGGGCCAATGCAAGTAAAAAGTAATTTAGCTCCCCCCTCCCCCCGCCCCGCCCGAGAGAGAAAAATATAACACGTCACATTCACTAATATTTAACATTAAGAGCAGGGAACATAAAACTTTATTCACTGCAAGAGCTGCGGTCCTGAGGGAAGAATCCTCTGAACTGAGTCAGCACTGAGCTGAGCGATGGAGCCTCAGGGATGAAAGAATAAAGCAGAGAGCCTGGCGTCCAGGCACAGCGAGACCCAAGGGGCCCTCCCAGTGACAGGAAGAGGTGAGACAGAGGCTGCTGCTTGCTCAGAGGCCCCAGAGCAGCTCCACTGCGCACCCAAGGACTCACCACCTTTACCACTAACAAGCTCTGCCAGTTTAATGTACAGTTACTCTGTACCACGTCCTGGGCTGGGCACTGCAGTTCCTGGGAAAATGACGCAGTCCAGGCCCTTTAGGGGAAGCCTGGGAAGAGGGAACTCAGGGGGATTGGGAGGATGGGGTGGGTGAGGCTCACTCCCTGTCAAGCTGGGCAAAGCGCCGTGTCTGAGAGGCAGGCAGCTAACCGCGAGCCGGCGGCGTTCCATTTACAATCTGGTGAGCCTGTATTGGTATAACTCGTATTGTGAGGCTTTTGAGATATCTTGTGACCTTGTGATTTTCCCCGTCTTTGGTGCTTTTGCCCCCTGTAGTGACAAGCAGTTAAAAAAACAAAAACAGAAAACACTCAGAAGGGCAGTGCTTGCTCAGGGATCTGCAGACAGGGCAGATGTCAAGCTCTCACCCAGTTCTGCTGTCGAATGGGGTGCAGGGAGGGGAAGAGGGACCAGGGCCTAGCAGGACAGGGGCAGCTGCAAGCCCCACCTAGAAGTACCCTGGTATGATAGGCTCTGGCTAGGAGCGCTGCAGTGTCACGAAGGCCCCCAGGGAGAGCTGGATCCCTTTGCCCTGATCCTCAGTCCCAGTCTGGAGCAACCTACAGGCCCTGGAGGAGGGGGCAGGACTCCAGTGCCCTTCCCACGAGGCCCTGCTGTACTGACCTCGAATCTGCAGGTTGGAGAAGGTCTGCACGGGAATGGTGATCCTGAAAGAAAGCAGAGGGAGAGGGCTGCCCGGGCTGCCTGGGACACCCCTAGGCTGGGTCTTGGTGCGGGGCCATCATGACAACTTGAACGCCCTTTTCCTTGCCAGGAAAGTCTAACTCCATCTCCTAGCTTTTTCCCCAGCAGCCAACGTGCTATCTGGAGTTCCAAACGTCTGCAAGGGGCTTGAGTGTTATCTGGGAGGGGCGCATGTCTATCTGAAGGAAGATGGAAAAGGGAGGGGAAAGTGGTGAAGAAAGTTCCAAGGAGGCAGAAGAGATGGGTGAGGTGAGGAGTCCAATCTTGGCTGGGAAGATGGGGAGTATGCCTCTTAGTTTGGAGGGTGACCCAAGTCCTTGGCCTTGAGGCCTAATCAATATTGGTTGAATCCATCCATCCATTCAGTCATCAAACATCTAGTGACTGCCTGCTATGTGTGAGGCAGGCACTGTGCTGGGCATTGAGGTGGGAAGGGATCTGCACACAAGGCTGAAAAAGACTCAGTCCCTGAAGGGAGCAAGATGAGCTCTACCGTGAGGCAGCAGGGAGACTTCCCCAGGGGCTGTGATGAGGGCTCACCGGTTCTCCTCGCCCTCTAGCAGCTTCCTGTAGGTGGCGATCTCGATGTCCAGGGCCAGCTTGACATTGAGCAGGTCCTGGTACTCCTGCAAGTGGCGGGCCATCTCGTCCTTGAGGCTCTGCCCCTCTTCCTCCAGCCGCGCCAGCGCCTCCTGATAACTGGCCGCCTCCCGCACGTGCCGCTCCTCCTGCTCGCGCATCTGCCTCTCCAGGGACTCGTTCTGTGGGATGGAGCCGGCCGGTCCCGCGGAGCCCCGACCCGACTTGGGGAGGTTTCGAGGCCCGGCCCCCGGCCCCAGGCCCCGCCTCTAGCCCGGGGGTAACGTTCAGGCCCCGCCCTCGACCCAGGTCCTCGTCCCTGGCCCTTCTCCCCTGGCATCTCCTGGGGTGGCCGTCCCTGCTCCGCCCGTCCCCGTCCTGCCCTGGCCGCGCTCACCGTGCCGCGCAGAGACTCCAGGTCGCAGGTCAAGGACTGCAACTGGCGCCGGTAGTCGTTGGCTTCGTGCTTGGCCTGGCGGAGCAGCTCCGCGTTGCGGGCAGCAGCGTCTGTCAGGTCTGCAAACTAGGTGGGGGACACATATGGGGGGCTGTGTGGGCCCATGGGCAGGCACGGGCTCTGGGAAATCAGGGAGGTGAGCAGCACCCCAGTTAACCCCAGGACGTTGGCCCTGGCTGGGACTTTTCCCAACAACTGTGACCCATGGATGCGGGCAGGGTAGCGGGCTGCCAGACCTCAGCACCTAGCACAACACCTGGTCAGCAAGCGAATGAATGAACAGTGCCACAGAATCCAGAACCTTCCACACTGACAGCTGCATCTGCGGGACTGAACGCTGTCGTCTTAGGCGAGCGGAGGCCTGGGTGTTTTGTGTGTTTTTGTTTTTTTGTTTTTTTTGTTTTATTTTGAGACAGAGTCTTGCTCTTGTCGCCCAGGTTGGAAGTCAGTGGCACAATCCCGGGTCACTGCAACCTCTGCCTCCCAGGTTCAAGCAATTCTCCTGCCCCAGCCACCTGAGTAGCTGGGATTACAGGCATGCGCCACTACACCCGGCTGATTTTGTATTTTTAGTAGAGACGGGGTTTCACCATGTTGACCAGGCTAGTCTTGAACTGCTGACCTCAGGTGATCCGCATGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACCTCGCCTGGCCTCACCCTGGGTTCTAATAGCCCTTTCTCCCCTGCCTGCAGGGAGGTCCTCCCAGCCCCATCGGGCCCTCACCCTGCTCAGACACCAGTGGCTTCTGCCACTCACACTCCTCAGCTAGGTGCCCTGGCTAGGCTAGCATCTTGGGGCCCTGCCTCTCTGTGCTTTTCTGCCTCCAGGCTCTGTCCTCCACTAGGAATGGCCCTCCCTTCTTCTCTTCCTGTCCACAGCGTGCCTGTCCTGCCTAGCCCAAATGCCCCCTCTACAGTGTCTTTCCTGGCTCCCACACTACATATAAGCTCTGAGCTGTGGTGTTCTCTACGGGCACTATGTTTGGGTGCACGTCAATATCACACCTTCCAGGTCAGACACCTCTCTGTGTCCTGGGGGGTGCCTGGCATATGGTAGAGGCTCAGTAACCCAAAACAGACTGGCAGAGGCATGGAATGCAGGCTCCCAAGTGAGATGTGCTAGAGTTGGAAATCCAACTCTACCACTTAGGAGCTGTGTGACTTTGAGCAAATTAGTTAACCTCTCTGGACTTCGGCTCTCTCATCTGTCAAAGAACAGCACCTACTTCATAGTAAGGTAATCCATGAAAAGCACAGGGCTTAGAACAGAACAGTATCAGCTACTACTAATAATAGCAATAGTAGCAGTAATAATAATGGGTACTTTTGAAAGCAATAGTGCCTGTGTGACCCTGGGCAAGCCATCTCACTTCTCTGGTGAAAGTCAGTCACCTGGAGAGGATATTCTCCCAGCTTCCTCCACCCTCCTTCCCCCATTCTCTTGTACAGAGCAAGAAGGGCTGCCTGGAGGAGGCAGGCTGGCCCACAGGCAGGGCTACCTTGGAGCGGTACCACTCTTCGGCTTCATGCATGTTGCTGGACGCCATTGCCTCA
ACCTCTCCCAGCCTCAGTTTCCTCATCTGTAAAATAAGGATGATGGGGCCTACTTCTCTAGGTGGGAGAGAGGAGACAATTAACTAAAATAAAGGCTGTTAAACATGTGGCACATATTAGTGCTCAATACACATAGGTCCCTTTCCTGTCCCCTTTCCTCTTTCCTACTTCTCTCTGCCATTTATCTGTGCTTTAGTGACCTGTGACTATCTAGGATTTGGCAGTATTACCTCTACTAGTCAGCCTGGTTAGCCTTTCTGATGCTGAATTAAGTCCTGAGACATGCATATCTAGTGGTCCTAAATATTCTAGTCCAGAAGAAGAGGAATTTTGTTCCTTAGCTAAGAATCATTTCAGGGCCAATGCAAGTAAAAAGTAATTTAGCTCCCCCCTCCCCCCGCCCCGCCCGAGAGAGAAAAATATAACACGTCACATTCACTAATATTTAACATTAAGAGCAGGGAACATAAAACTTTATTCACTGCAAGAGCTGCGGTCCTGAGGGAAGAATCCTCTGAACTGAGTCAGCACTGAGCTGAGCGATGGAGCCTCAGGGATGAAAGAATAAAGCAGAGAGCCTGGCGTCCAGGCACAGCGAGACCCAAGGGGCCCTCCCAGTGACAGGAAGAGGTGAGACAGAGGCTGCTGCTTGCTCAGAGGCCCCAGAGCAGCTCCACTGCGCACCCAAGGACTCACCACCTTTACCACTAACAAGCTCTGCCAGTTTAATGTACAGTTACTCTGTACCACGTCCTGGGCTGGGCACTGCAGTTCCTGGGAAAATGACGCAGTCCAGGCCCTTTAGGGGAAGCCTGGGAAGAGGGAACTCAGGGGGATTGGGAGGATGGGGTGGGTGAGGCTCACTCCCTGTCAAGCTGGGCAAAGCGCCGTGTCTGAGAGGCAGGCAGCTAACCGCGAGCCGGCGGCGTTCCATTTACAATCTGGTGAGCCTGTATTGGTATAACTCGTATTGTGAGGCTTTTGAGATATCTTGTGACCTTGTGATTTTCCCCGTCTTTGGTGCTTTTGCCCCCTGTAGTGACAAGCAGTTAAAAAAACAAAAACAGAAAACACTCAGAAGGGCAGTGCTTGCTCAGGGATCTGCAGACAGGGCAGATGTCAAGCTCTCACCCAGTTCTGCTGTCGAATGGGGTGCAGGGAGGGGAAGAGGGACCAGGGCCTAGCAGGACAGGGGCAGCTGCAAGCCCCACCTAGAAGTACCCTGGTATGATAGGCTCTGGCTAGGAGCGCTGCAGTGTCACGAAGGCCCCCAGGGAGAGCTGGATCCCTTTGCCCTGATCCTCAGTCCCAGTCTGGAGCAACCTACAGGCCCTGGAGGAGGGGGCAGGACTCCAGTGCCCTTCCCACGAGGCCCTGCTGTACTGACCTCGAATCTGCAGGTTGGAGAAGGTCTGCACGGGAATGGTGATCCTGAAAGAAAGCAGAGGGAGAGGGCTGCCCGGGCTGCCTGGGACACCCCTAGGCTGGGTCTTGGTGCGGGGCCATCATGACAACTTGAACGCCCTTTTCCTTGCCAGGAAAGTCTAACTCCATCTCCTAGCTTTTTCCCCAGCAGCCAACGTGCTATCTGGAGTTCCAAACGTCTGCAAGGGGCTTGAGTGTTATCTGGGAGGGGCGCATGTCTATCTGAAGGAAGATGGAAAAGGGAGGGGAAAGTGGTGAAGAAAGTTCCAAGGAGGCAGAAGAGATGGGTGAGGTGAGGAGTCCAATCTTGGCTGGGAAGATGGGGAGTATGCCTCTTAGTTTGGAGGGTGACCCAAGTCCTTGGCCTTGAGGCCTAATCAATATTGGTTGAATCCATCCATCCATTCAGTCATCAAACATCTAGTGACTGCCTGCTATGTGTGAGGCAGGCACTGTGCTGGGCATTGAGGTGGGAAGGGATCTGCACACAAGGCTGAAAAAGACTCAGTCCCTGAAGGGAGCAAGATGAGCTCTACCGTGAGGCAGCAGGGAGACTTCCCCAGGGGCTGTGATGAGGGCTCACCGGTTCTCCTCGCCCTCTAGCAGCTTCCTGTAGGTGGCGACCTCGATGTCCAGGGCCAGCTTGACATTGAGCAGGTCCTGGTACTCCTGCAAGTGGCGGGCCATCTCGTCCTTGAGGCTCTGCCCCTCTTCCTCCAGCCGCGCCAGCGCCTCCTGATAACTGGCCGCCTCCCGCACGTGCCGCTCCTCCTGCTCGCGCATCTGCCTCTCCAGGGACTCGTTCTGTGGGATGGAGCCGGCCGGTCCCGCGGAGCCCCGACCCGACTTGGGGAGGTTTCGAGGCCCGGCCCCCGGCCCCAGGCCCCGCCTCTAGCCCGGGGGTAACGTTCAGGCCCCGCCCTCGACCCAGGTCCTCGTCCCTGGCCCTTCTCCCCTGGCATCTCCTGGGGTGGCCGTCCCTGCTCCGCCCGTCCCCGTCCTGCCCTGGCCGCGCTCACCGTGCCGCGCAGAGACTCCAGGTCGCAGGTCAAGGACTGCAACTGGCGCCGGTAGTCGTTGGCTTCGTGCTTGGCCTGGCGGAGCAGCTCCGCGTTGCGGGCAGCAGCGTCTGTCAGGTCTGCAAACTAGGTGGGGGACACATATGGGGGGCTGTGTGGGCCCATGGGCAGGCACGGGCTCTGGGAAATCAGGGAGGTGAGCAGCACCCCAGTTAACCCCAGGACGTTGGCCCTGGCTGGGACTTTTCCCAACAACTGTGACCCATGGATGCGGGCAGGGTAGCGGGCTGCCAGACCTCAGCACCTAGCACAACACCTGGTCAGCAAGCGAATGAATGAACAGTGCCACAGAATCCAGAACCTTCCACACTGACAGCTGCATCTGCGGGACTGAACGCTGTCGTCTTAGGCGAGCGGAGGCCTGGGTGTTTTGTGTGTTTTTGTTTTTTTGTTTTTTTTGTTTTATTTTGAGACAGAGTCTTGCTCTTGTCGCCCAGGTTGGAAGTCAGTGGCACAATCCCGGGTCACTGCAACCTCTGCCTCCCAGGTTCAAGCAATTCTCCTGCCCCAGCCACCTGAGTAGCTGGGATTACAGGCATGCGCCACTACACCCGGCTGATTTTGTATTTTTAGTAGAGACGGGGTTTCACCATGTTGACCAGGCTAGTCTTGAACTGCTGACCTCAGGTGATCCGCATGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACCTCGCCTGGCCTCACCCTGGGTTCTAATAGCCCTTTCTCCCCTGCCTGCAGGGAGGTCCTCCCAGCCCCATCGGGCCCTCACCCTGCTCAGACACCAGTGGCTTCTGCCACTCACACTCCTCAGCTAGGTGCCCTGGCTAGGCTAGCATCTTGGGGCCCTGCCTCTCTGTGCTTTTCTGCCTCCAGGCTCTGTCCTCCACTAGGAATGGCCCTCCCTTCTTCTCTTCCTGTCCACAGCGTGCCTGTCCTGCCTAGCCCAAATGCCCCCTCTACAGTGTCTTTCCTGGCTCCCACACTACATATAAGCTCTGAGCTGTGGTGTTCTCTACGGGCACTATGTTTGGGTGCACGTCAATATCACACCTTCCAGGTCAGACACCTCTCTGTGTCCTGGGGGGTGCCTGGCATATGGTAGAGGCTCAGTAACCCAAAACAGACTGGCAGAGGCATGGAATGCAGGCTCCCAAGTGAGATGTGCTAGAGTTGGAAATCCAACTCTACCACTTAGGAGCTGTGTGACTTTGAGCAAATTAGTTAACCTCTCTGGACTTCGGCTCTCTCATCTGTCAAAGAACAGCACCTACTTCATAGTAAGGTAATCCATGAAAAGCACAGGGCTTAGAACAGAACAGTATCAGCTACTACTAATAATAGCAATAGTAGCAGTAATAATAATGGGTACTTTTGAAAGCAATAGTGCCTGTGTGACCCTGGGCAAGCCATCTCACTTCTCTGGTGAAAGTCAGTCACCTGGAGAGGATATTCTCCCAGCTTCCTCCACCCTCCTTCCCCCATTCTCTTGTACAGAGCAAGAAGGGCTGCCTGGAGGAGGCAGGCTGGCCCACAGGCAGGGCTACCTTGGAGCGGTACCACTCTTCGGCTTCATGCATGTTGCTGGACGCCATTGCCTCA
Task1_train_24760
Here is a genetic alteration in GFAP, LOC130060994 (glial fibrillary acidic protein| ATAC-STARR-seq lymphoblastoid active region 12266) on Chromosome 17. Based on the data, is it a benign variant or a cause of disease?
Pathogenic; Alexander disease
CCTCTCCCAGCCTCAGTTTCCTCATCTGTAAAATAAGGATGATGGGGCCTACTTCTCTAGGTGGGAGAGAGGAGACAATTAACTAAAATAAAGGCTGTTAAACATGTGGCACATATTAGTGCTCAATACACATAGGTCCCTTTCCTGTCCCCTTTCCTCTTTCCTACTTCTCTCTGCCATTTATCTGTGCTTTAGTGACCTGTGACTATCTAGGATTTGGCAGTATTACCTCTACTAGTCAGCCTGGTTAGCCTTTCTGATGCTGAATTAAGTCCTGAGACATGCATATCTAGTGGTCCTAAATATTCTAGTCCAGAAGAAGAGGAATTTTGTTCCTTAGCTAAGAATCATTTCAGGGCCAATGCAAGTAAAAAGTAATTTAGCTCCCCCCTCCCCCCGCCCCGCCCGAGAGAGAAAAATATAACACGTCACATTCACTAATATTTAACATTAAGAGCAGGGAACATAAAACTTTATTCACTGCAAGAGCTGCGGTCCTGAGGGAAGAATCCTCTGAACTGAGTCAGCACTGAGCTGAGCGATGGAGCCTCAGGGATGAAAGAATAAAGCAGAGAGCCTGGCGTCCAGGCACAGCGAGACCCAAGGGGCCCTCCCAGTGACAGGAAGAGGTGAGACAGAGGCTGCTGCTTGCTCAGAGGCCCCAGAGCAGCTCCACTGCGCACCCAAGGACTCACCACCTTTACCACTAACAAGCTCTGCCAGTTTAATGTACAGTTACTCTGTACCACGTCCTGGGCTGGGCACTGCAGTTCCTGGGAAAATGACGCAGTCCAGGCCCTTTAGGGGAAGCCTGGGAAGAGGGAACTCAGGGGGATTGGGAGGATGGGGTGGGTGAGGCTCACTCCCTGTCAAGCTGGGCAAAGCGCCGTGTCTGAGAGGCAGGCAGCTAACCGCGAGCCGGCGGCGTTCCATTTACAATCTGGTGAGCCTGTATTGGTATAACTCGTATTGTGAGGCTTTTGAGATATCTTGTGACCTTGTGATTTTCCCCGTCTTTGGTGCTTTTGCCCCCTGTAGTGACAAGCAGTTAAAAAAACAAAAACAGAAAACACTCAGAAGGGCAGTGCTTGCTCAGGGATCTGCAGACAGGGCAGATGTCAAGCTCTCACCCAGTTCTGCTGTCGAATGGGGTGCAGGGAGGGGAAGAGGGACCAGGGCCTAGCAGGACAGGGGCAGCTGCAAGCCCCACCTAGAAGTACCCTGGTATGATAGGCTCTGGCTAGGAGCGCTGCAGTGTCACGAAGGCCCCCAGGGAGAGCTGGATCCCTTTGCCCTGATCCTCAGTCCCAGTCTGGAGCAACCTACAGGCCCTGGAGGAGGGGGCAGGACTCCAGTGCCCTTCCCACGAGGCCCTGCTGTACTGACCTCGAATCTGCAGGTTGGAGAAGGTCTGCACGGGAATGGTGATCCTGAAAGAAAGCAGAGGGAGAGGGCTGCCCGGGCTGCCTGGGACACCCCTAGGCTGGGTCTTGGTGCGGGGCCATCATGACAACTTGAACGCCCTTTTCCTTGCCAGGAAAGTCTAACTCCATCTCCTAGCTTTTTCCCCAGCAGCCAACGTGCTATCTGGAGTTCCAAACGTCTGCAAGGGGCTTGAGTGTTATCTGGGAGGGGCGCATGTCTATCTGAAGGAAGATGGAAAAGGGAGGGGAAAGTGGTGAAGAAAGTTCCAAGGAGGCAGAAGAGATGGGTGAGGTGAGGAGTCCAATCTTGGCTGGGAAGATGGGGAGTATGCCTCTTAGTTTGGAGGGTGACCCAAGTCCTTGGCCTTGAGGCCTAATCAATATTGGTTGAATCCATCCATCCATTCAGTCATCAAACATCTAGTGACTGCCTGCTATGTGTGAGGCAGGCACTGTGCTGGGCATTGAGGTGGGAAGGGATCTGCACACAAGGCTGAAAAAGACTCAGTCCCTGAAGGGAGCAAGATGAGCTCTACCGTGAGGCAGCAGGGAGACTTCCCCAGGGGCTGTGATGAGGGCTCACCGGTTCTCCTCGCCCTCTAGCAGCTTCCTGTAGGTGGCGATCTCGATGTCCAGGGCCAGCTTGACATTGAGCAGGTCCTGGTACTCCTGCAAGTGGCGGGCCATCTCGTCCTTGAGGCTCTGCCCCTCTTCCTCCAGCCGCGCCAGCGCCTCCTGATAACTGGCCGCCTCCCGCACGTGCCGCTCCTCCTGCTCGCGCATCTGCCTCTCCAGGGACTCGTTCTGTGGGATGGAGCCGGCCGGTCCCGCGGAGCCCCGACCCGACTTGGGGAGGTTTCGAGGCCCGGCCCCCGGCCCCAGGCCCCGCCTCTAGCCCGGGGGTAACGTTCAGGCCCCGCCCTCGACCCAGGTCCTCGTCCCTGGCCCTTCTCCCCTGGCATCTCCTGGGGTGGCCGTCCCTGCTCCGCCCGTCCCCGTCCTGCCCTGGCCGCGCTCACCGTGCCGCGCAGAGACTCCAGGTCGCAGGTCAAGGACTGCAACTGGCGCCGGTAGTCGTTGGCTTCGTGCTTGGCCTGGCGGAGCAGCTCCGCGTTGCGGGCAGCAGCGTCTGTCAGGTCTGCAAACTAGGTGGGGGACACATATGGGGGGCTGTGTGGGCCCATGGGCAGGCACGGGCTCTGGGAAATCAGGGAGGTGAGCAGCACCCCAGTTAACCCCAGGACGTTGGCCCTGGCTGGGACTTTTCCCAACAACTGTGACCCATGGATGCGGGCAGGGTAGCGGGCTGCCAGACCTCAGCACCTAGCACAACACCTGGTCAGCAAGCGAATGAATGAACAGTGCCACAGAATCCAGAACCTTCCACACTGACAGCTGCATCTGCGGGACTGAACGCTGTCGTCTTAGGCGAGCGGAGGCCTGGGTGTTTTGTGTGTTTTTGTTTTTTTGTTTTTTTTGTTTTATTTTGAGACAGAGTCTTGCTCTTGTCGCCCAGGTTGGAAGTCAGTGGCACAATCCCGGGTCACTGCAACCTCTGCCTCCCAGGTTCAAGCAATTCTCCTGCCCCAGCCACCTGAGTAGCTGGGATTACAGGCATGCGCCACTACACCCGGCTGATTTTGTATTTTTAGTAGAGACGGGGTTTCACCATGTTGACCAGGCTAGTCTTGAACTGCTGACCTCAGGTGATCCGCATGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACCTCGCCTGGCCTCACCCTGGGTTCTAATAGCCCTTTCTCCCCTGCCTGCAGGGAGGTCCTCCCAGCCCCATCGGGCCCTCACCCTGCTCAGACACCAGTGGCTTCTGCCACTCACACTCCTCAGCTAGGTGCCCTGGCTAGGCTAGCATCTTGGGGCCCTGCCTCTCTGTGCTTTTCTGCCTCCAGGCTCTGTCCTCCACTAGGAATGGCCCTCCCTTCTTCTCTTCCTGTCCACAGCGTGCCTGTCCTGCCTAGCCCAAATGCCCCCTCTACAGTGTCTTTCCTGGCTCCCACACTACATATAAGCTCTGAGCTGTGGTGTTCTCTACGGGCACTATGTTTGGGTGCACGTCAATATCACACCTTCCAGGTCAGACACCTCTCTGTGTCCTGGGGGGTGCCTGGCATATGGTAGAGGCTCAGTAACCCAAAACAGACTGGCAGAGGCATGGAATGCAGGCTCCCAAGTGAGATGTGCTAGAGTTGGAAATCCAACTCTACCACTTAGGAGCTGTGTGACTTTGAGCAAATTAGTTAACCTCTCTGGACTTCGGCTCTCTCATCTGTCAAAGAACAGCACCTACTTCATAGTAAGGTAATCCATGAAAAGCACAGGGCTTAGAACAGAACAGTATCAGCTACTACTAATAATAGCAATAGTAGCAGTAATAATAATGGGTACTTTTGAAAGCAATAGTGCCTGTGTGACCCTGGGCAAGCCATCTCACTTCTCTGGTGAAAGTCAGTCACCTGGAGAGGATATTCTCCCAGCTTCCTCCACCCTCCTTCCCCCATTCTCTTGTACAGAGCAAGAAGGGCTGCCTGGAGGAGGCAGGCTGGCCCACAGGCAGGGCTACCTTGGAGCGGTACCACTCTTCGGCTTCATGCATGTTGCTGGACGCCATTGCCTCAT
CCTCTCCCAGCCTCAGTTTCCTCATCTGTAAAATAAGGATGATGGGGCCTACTTCTCTAGGTGGGAGAGAGGAGACAATTAACTAAAATAAAGGCTGTTAAACATGTGGCACATATTAGTGCTCAATACACATAGGTCCCTTTCCTGTCCCCTTTCCTCTTTCCTACTTCTCTCTGCCATTTATCTGTGCTTTAGTGACCTGTGACTATCTAGGATTTGGCAGTATTACCTCTACTAGTCAGCCTGGTTAGCCTTTCTGATGCTGAATTAAGTCCTGAGACATGCATATCTAGTGGTCCTAAATATTCTAGTCCAGAAGAAGAGGAATTTTGTTCCTTAGCTAAGAATCATTTCAGGGCCAATGCAAGTAAAAAGTAATTTAGCTCCCCCCTCCCCCCGCCCCGCCCGAGAGAGAAAAATATAACACGTCACATTCACTAATATTTAACATTAAGAGCAGGGAACATAAAACTTTATTCACTGCAAGAGCTGCGGTCCTGAGGGAAGAATCCTCTGAACTGAGTCAGCACTGAGCTGAGCGATGGAGCCTCAGGGATGAAAGAATAAAGCAGAGAGCCTGGCGTCCAGGCACAGCGAGACCCAAGGGGCCCTCCCAGTGACAGGAAGAGGTGAGACAGAGGCTGCTGCTTGCTCAGAGGCCCCAGAGCAGCTCCACTGCGCACCCAAGGACTCACCACCTTTACCACTAACAAGCTCTGCCAGTTTAATGTACAGTTACTCTGTACCACGTCCTGGGCTGGGCACTGCAGTTCCTGGGAAAATGACGCAGTCCAGGCCCTTTAGGGGAAGCCTGGGAAGAGGGAACTCAGGGGGATTGGGAGGATGGGGTGGGTGAGGCTCACTCCCTGTCAAGCTGGGCAAAGCGCCGTGTCTGAGAGGCAGGCAGCTAACCGCGAGCCGGCGGCGTTCCATTTACAATCTGGTGAGCCTGTATTGGTATAACTCGTATTGTGAGGCTTTTGAGATATCTTGTGACCTTGTGATTTTCCCCGTCTTTGGTGCTTTTGCCCCCTGTAGTGACAAGCAGTTAAAAAAACAAAAACAGAAAACACTCAGAAGGGCAGTGCTTGCTCAGGGATCTGCAGACAGGGCAGATGTCAAGCTCTCACCCAGTTCTGCTGTCGAATGGGGTGCAGGGAGGGGAAGAGGGACCAGGGCCTAGCAGGACAGGGGCAGCTGCAAGCCCCACCTAGAAGTACCCTGGTATGATAGGCTCTGGCTAGGAGCGCTGCAGTGTCACGAAGGCCCCCAGGGAGAGCTGGATCCCTTTGCCCTGATCCTCAGTCCCAGTCTGGAGCAACCTACAGGCCCTGGAGGAGGGGGCAGGACTCCAGTGCCCTTCCCACGAGGCCCTGCTGTACTGACCTCGAATCTGCAGGTTGGAGAAGGTCTGCACGGGAATGGTGATCCTGAAAGAAAGCAGAGGGAGAGGGCTGCCCGGGCTGCCTGGGACACCCCTAGGCTGGGTCTTGGTGCGGGGCCATCATGACAACTTGAACGCCCTTTTCCTTGCCAGGAAAGTCTAACTCCATCTCCTAGCTTTTTCCCCAGCAGCCAACGTGCTATCTGGAGTTCCAAACGTCTGCAAGGGGCTTGAGTGTTATCTGGGAGGGGCGCATGTCTATCTGAAGGAAGATGGAAAAGGGAGGGGAAAGTGGTGAAGAAAGTTCCAAGGAGGCAGAAGAGATGGGTGAGGTGAGGAGTCCAATCTTGGCTGGGAAGATGGGGAGTATGCCTCTTAGTTTGGAGGGTGACCCAAGTCCTTGGCCTTGAGGCCTAATCAATATTGGTTGAATCCATCCATCCATTCAGTCATCAAACATCTAGTGACTGCCTGCTATGTGTGAGGCAGGCACTGTGCTGGGCATTGAGGTGGGAAGGGATCTGCACACAAGGCTGAAAAAGACTCAGTCCCTGAAGGGAGCAAGATGAGCTCTACCGTGAGGCAGCAGGGAGACTTCCCCAGGGGCTGTGATGAGGGCTCACCGGTTCTCCTCGCCCTCTAGCAGCTTCCTGTAGGTGGCGATGTCGATGTCCAGGGCCAGCTTGACATTGAGCAGGTCCTGGTACTCCTGCAAGTGGCGGGCCATCTCGTCCTTGAGGCTCTGCCCCTCTTCCTCCAGCCGCGCCAGCGCCTCCTGATAACTGGCCGCCTCCCGCACGTGCCGCTCCTCCTGCTCGCGCATCTGCCTCTCCAGGGACTCGTTCTGTGGGATGGAGCCGGCCGGTCCCGCGGAGCCCCGACCCGACTTGGGGAGGTTTCGAGGCCCGGCCCCCGGCCCCAGGCCCCGCCTCTAGCCCGGGGGTAACGTTCAGGCCCCGCCCTCGACCCAGGTCCTCGTCCCTGGCCCTTCTCCCCTGGCATCTCCTGGGGTGGCCGTCCCTGCTCCGCCCGTCCCCGTCCTGCCCTGGCCGCGCTCACCGTGCCGCGCAGAGACTCCAGGTCGCAGGTCAAGGACTGCAACTGGCGCCGGTAGTCGTTGGCTTCGTGCTTGGCCTGGCGGAGCAGCTCCGCGTTGCGGGCAGCAGCGTCTGTCAGGTCTGCAAACTAGGTGGGGGACACATATGGGGGGCTGTGTGGGCCCATGGGCAGGCACGGGCTCTGGGAAATCAGGGAGGTGAGCAGCACCCCAGTTAACCCCAGGACGTTGGCCCTGGCTGGGACTTTTCCCAACAACTGTGACCCATGGATGCGGGCAGGGTAGCGGGCTGCCAGACCTCAGCACCTAGCACAACACCTGGTCAGCAAGCGAATGAATGAACAGTGCCACAGAATCCAGAACCTTCCACACTGACAGCTGCATCTGCGGGACTGAACGCTGTCGTCTTAGGCGAGCGGAGGCCTGGGTGTTTTGTGTGTTTTTGTTTTTTTGTTTTTTTTGTTTTATTTTGAGACAGAGTCTTGCTCTTGTCGCCCAGGTTGGAAGTCAGTGGCACAATCCCGGGTCACTGCAACCTCTGCCTCCCAGGTTCAAGCAATTCTCCTGCCCCAGCCACCTGAGTAGCTGGGATTACAGGCATGCGCCACTACACCCGGCTGATTTTGTATTTTTAGTAGAGACGGGGTTTCACCATGTTGACCAGGCTAGTCTTGAACTGCTGACCTCAGGTGATCCGCATGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACCTCGCCTGGCCTCACCCTGGGTTCTAATAGCCCTTTCTCCCCTGCCTGCAGGGAGGTCCTCCCAGCCCCATCGGGCCCTCACCCTGCTCAGACACCAGTGGCTTCTGCCACTCACACTCCTCAGCTAGGTGCCCTGGCTAGGCTAGCATCTTGGGGCCCTGCCTCTCTGTGCTTTTCTGCCTCCAGGCTCTGTCCTCCACTAGGAATGGCCCTCCCTTCTTCTCTTCCTGTCCACAGCGTGCCTGTCCTGCCTAGCCCAAATGCCCCCTCTACAGTGTCTTTCCTGGCTCCCACACTACATATAAGCTCTGAGCTGTGGTGTTCTCTACGGGCACTATGTTTGGGTGCACGTCAATATCACACCTTCCAGGTCAGACACCTCTCTGTGTCCTGGGGGGTGCCTGGCATATGGTAGAGGCTCAGTAACCCAAAACAGACTGGCAGAGGCATGGAATGCAGGCTCCCAAGTGAGATGTGCTAGAGTTGGAAATCCAACTCTACCACTTAGGAGCTGTGTGACTTTGAGCAAATTAGTTAACCTCTCTGGACTTCGGCTCTCTCATCTGTCAAAGAACAGCACCTACTTCATAGTAAGGTAATCCATGAAAAGCACAGGGCTTAGAACAGAACAGTATCAGCTACTACTAATAATAGCAATAGTAGCAGTAATAATAATGGGTACTTTTGAAAGCAATAGTGCCTGTGTGACCCTGGGCAAGCCATCTCACTTCTCTGGTGAAAGTCAGTCACCTGGAGAGGATATTCTCCCAGCTTCCTCCACCCTCCTTCCCCCATTCTCTTGTACAGAGCAAGAAGGGCTGCCTGGAGGAGGCAGGCTGGCCCACAGGCAGGGCTACCTTGGAGCGGTACCACTCTTCGGCTTCATGCATGTTGCTGGACGCCATTGCCTCAT
Task1_train_24761
An alteration has been detected in LOC130060994, GFAP (ATAC-STARR-seq lymphoblastoid active region 12266| glial fibrillary acidic protein) on Chromosome 17. Is it pathogenic, and if so, what disease is involved?
Pathogenic; Alexander disease
CTCTCCCAGCCTCAGTTTCCTCATCTGTAAAATAAGGATGATGGGGCCTACTTCTCTAGGTGGGAGAGAGGAGACAATTAACTAAAATAAAGGCTGTTAAACATGTGGCACATATTAGTGCTCAATACACATAGGTCCCTTTCCTGTCCCCTTTCCTCTTTCCTACTTCTCTCTGCCATTTATCTGTGCTTTAGTGACCTGTGACTATCTAGGATTTGGCAGTATTACCTCTACTAGTCAGCCTGGTTAGCCTTTCTGATGCTGAATTAAGTCCTGAGACATGCATATCTAGTGGTCCTAAATATTCTAGTCCAGAAGAAGAGGAATTTTGTTCCTTAGCTAAGAATCATTTCAGGGCCAATGCAAGTAAAAAGTAATTTAGCTCCCCCCTCCCCCCGCCCCGCCCGAGAGAGAAAAATATAACACGTCACATTCACTAATATTTAACATTAAGAGCAGGGAACATAAAACTTTATTCACTGCAAGAGCTGCGGTCCTGAGGGAAGAATCCTCTGAACTGAGTCAGCACTGAGCTGAGCGATGGAGCCTCAGGGATGAAAGAATAAAGCAGAGAGCCTGGCGTCCAGGCACAGCGAGACCCAAGGGGCCCTCCCAGTGACAGGAAGAGGTGAGACAGAGGCTGCTGCTTGCTCAGAGGCCCCAGAGCAGCTCCACTGCGCACCCAAGGACTCACCACCTTTACCACTAACAAGCTCTGCCAGTTTAATGTACAGTTACTCTGTACCACGTCCTGGGCTGGGCACTGCAGTTCCTGGGAAAATGACGCAGTCCAGGCCCTTTAGGGGAAGCCTGGGAAGAGGGAACTCAGGGGGATTGGGAGGATGGGGTGGGTGAGGCTCACTCCCTGTCAAGCTGGGCAAAGCGCCGTGTCTGAGAGGCAGGCAGCTAACCGCGAGCCGGCGGCGTTCCATTTACAATCTGGTGAGCCTGTATTGGTATAACTCGTATTGTGAGGCTTTTGAGATATCTTGTGACCTTGTGATTTTCCCCGTCTTTGGTGCTTTTGCCCCCTGTAGTGACAAGCAGTTAAAAAAACAAAAACAGAAAACACTCAGAAGGGCAGTGCTTGCTCAGGGATCTGCAGACAGGGCAGATGTCAAGCTCTCACCCAGTTCTGCTGTCGAATGGGGTGCAGGGAGGGGAAGAGGGACCAGGGCCTAGCAGGACAGGGGCAGCTGCAAGCCCCACCTAGAAGTACCCTGGTATGATAGGCTCTGGCTAGGAGCGCTGCAGTGTCACGAAGGCCCCCAGGGAGAGCTGGATCCCTTTGCCCTGATCCTCAGTCCCAGTCTGGAGCAACCTACAGGCCCTGGAGGAGGGGGCAGGACTCCAGTGCCCTTCCCACGAGGCCCTGCTGTACTGACCTCGAATCTGCAGGTTGGAGAAGGTCTGCACGGGAATGGTGATCCTGAAAGAAAGCAGAGGGAGAGGGCTGCCCGGGCTGCCTGGGACACCCCTAGGCTGGGTCTTGGTGCGGGGCCATCATGACAACTTGAACGCCCTTTTCCTTGCCAGGAAAGTCTAACTCCATCTCCTAGCTTTTTCCCCAGCAGCCAACGTGCTATCTGGAGTTCCAAACGTCTGCAAGGGGCTTGAGTGTTATCTGGGAGGGGCGCATGTCTATCTGAAGGAAGATGGAAAAGGGAGGGGAAAGTGGTGAAGAAAGTTCCAAGGAGGCAGAAGAGATGGGTGAGGTGAGGAGTCCAATCTTGGCTGGGAAGATGGGGAGTATGCCTCTTAGTTTGGAGGGTGACCCAAGTCCTTGGCCTTGAGGCCTAATCAATATTGGTTGAATCCATCCATCCATTCAGTCATCAAACATCTAGTGACTGCCTGCTATGTGTGAGGCAGGCACTGTGCTGGGCATTGAGGTGGGAAGGGATCTGCACACAAGGCTGAAAAAGACTCAGTCCCTGAAGGGAGCAAGATGAGCTCTACCGTGAGGCAGCAGGGAGACTTCCCCAGGGGCTGTGATGAGGGCTCACCGGTTCTCCTCGCCCTCTAGCAGCTTCCTGTAGGTGGCGATCTCGATGTCCAGGGCCAGCTTGACATTGAGCAGGTCCTGGTACTCCTGCAAGTGGCGGGCCATCTCGTCCTTGAGGCTCTGCCCCTCTTCCTCCAGCCGCGCCAGCGCCTCCTGATAACTGGCCGCCTCCCGCACGTGCCGCTCCTCCTGCTCGCGCATCTGCCTCTCCAGGGACTCGTTCTGTGGGATGGAGCCGGCCGGTCCCGCGGAGCCCCGACCCGACTTGGGGAGGTTTCGAGGCCCGGCCCCCGGCCCCAGGCCCCGCCTCTAGCCCGGGGGTAACGTTCAGGCCCCGCCCTCGACCCAGGTCCTCGTCCCTGGCCCTTCTCCCCTGGCATCTCCTGGGGTGGCCGTCCCTGCTCCGCCCGTCCCCGTCCTGCCCTGGCCGCGCTCACCGTGCCGCGCAGAGACTCCAGGTCGCAGGTCAAGGACTGCAACTGGCGCCGGTAGTCGTTGGCTTCGTGCTTGGCCTGGCGGAGCAGCTCCGCGTTGCGGGCAGCAGCGTCTGTCAGGTCTGCAAACTAGGTGGGGGACACATATGGGGGGCTGTGTGGGCCCATGGGCAGGCACGGGCTCTGGGAAATCAGGGAGGTGAGCAGCACCCCAGTTAACCCCAGGACGTTGGCCCTGGCTGGGACTTTTCCCAACAACTGTGACCCATGGATGCGGGCAGGGTAGCGGGCTGCCAGACCTCAGCACCTAGCACAACACCTGGTCAGCAAGCGAATGAATGAACAGTGCCACAGAATCCAGAACCTTCCACACTGACAGCTGCATCTGCGGGACTGAACGCTGTCGTCTTAGGCGAGCGGAGGCCTGGGTGTTTTGTGTGTTTTTGTTTTTTTGTTTTTTTTGTTTTATTTTGAGACAGAGTCTTGCTCTTGTCGCCCAGGTTGGAAGTCAGTGGCACAATCCCGGGTCACTGCAACCTCTGCCTCCCAGGTTCAAGCAATTCTCCTGCCCCAGCCACCTGAGTAGCTGGGATTACAGGCATGCGCCACTACACCCGGCTGATTTTGTATTTTTAGTAGAGACGGGGTTTCACCATGTTGACCAGGCTAGTCTTGAACTGCTGACCTCAGGTGATCCGCATGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACCTCGCCTGGCCTCACCCTGGGTTCTAATAGCCCTTTCTCCCCTGCCTGCAGGGAGGTCCTCCCAGCCCCATCGGGCCCTCACCCTGCTCAGACACCAGTGGCTTCTGCCACTCACACTCCTCAGCTAGGTGCCCTGGCTAGGCTAGCATCTTGGGGCCCTGCCTCTCTGTGCTTTTCTGCCTCCAGGCTCTGTCCTCCACTAGGAATGGCCCTCCCTTCTTCTCTTCCTGTCCACAGCGTGCCTGTCCTGCCTAGCCCAAATGCCCCCTCTACAGTGTCTTTCCTGGCTCCCACACTACATATAAGCTCTGAGCTGTGGTGTTCTCTACGGGCACTATGTTTGGGTGCACGTCAATATCACACCTTCCAGGTCAGACACCTCTCTGTGTCCTGGGGGGTGCCTGGCATATGGTAGAGGCTCAGTAACCCAAAACAGACTGGCAGAGGCATGGAATGCAGGCTCCCAAGTGAGATGTGCTAGAGTTGGAAATCCAACTCTACCACTTAGGAGCTGTGTGACTTTGAGCAAATTAGTTAACCTCTCTGGACTTCGGCTCTCTCATCTGTCAAAGAACAGCACCTACTTCATAGTAAGGTAATCCATGAAAAGCACAGGGCTTAGAACAGAACAGTATCAGCTACTACTAATAATAGCAATAGTAGCAGTAATAATAATGGGTACTTTTGAAAGCAATAGTGCCTGTGTGACCCTGGGCAAGCCATCTCACTTCTCTGGTGAAAGTCAGTCACCTGGAGAGGATATTCTCCCAGCTTCCTCCACCCTCCTTCCCCCATTCTCTTGTACAGAGCAAGAAGGGCTGCCTGGAGGAGGCAGGCTGGCCCACAGGCAGGGCTACCTTGGAGCGGTACCACTCTTCGGCTTCATGCATGTTGCTGGACGCCATTGCCTCATA
CTCTCCCAGCCTCAGTTTCCTCATCTGTAAAATAAGGATGATGGGGCCTACTTCTCTAGGTGGGAGAGAGGAGACAATTAACTAAAATAAAGGCTGTTAAACATGTGGCACATATTAGTGCTCAATACACATAGGTCCCTTTCCTGTCCCCTTTCCTCTTTCCTACTTCTCTCTGCCATTTATCTGTGCTTTAGTGACCTGTGACTATCTAGGATTTGGCAGTATTACCTCTACTAGTCAGCCTGGTTAGCCTTTCTGATGCTGAATTAAGTCCTGAGACATGCATATCTAGTGGTCCTAAATATTCTAGTCCAGAAGAAGAGGAATTTTGTTCCTTAGCTAAGAATCATTTCAGGGCCAATGCAAGTAAAAAGTAATTTAGCTCCCCCCTCCCCCCGCCCCGCCCGAGAGAGAAAAATATAACACGTCACATTCACTAATATTTAACATTAAGAGCAGGGAACATAAAACTTTATTCACTGCAAGAGCTGCGGTCCTGAGGGAAGAATCCTCTGAACTGAGTCAGCACTGAGCTGAGCGATGGAGCCTCAGGGATGAAAGAATAAAGCAGAGAGCCTGGCGTCCAGGCACAGCGAGACCCAAGGGGCCCTCCCAGTGACAGGAAGAGGTGAGACAGAGGCTGCTGCTTGCTCAGAGGCCCCAGAGCAGCTCCACTGCGCACCCAAGGACTCACCACCTTTACCACTAACAAGCTCTGCCAGTTTAATGTACAGTTACTCTGTACCACGTCCTGGGCTGGGCACTGCAGTTCCTGGGAAAATGACGCAGTCCAGGCCCTTTAGGGGAAGCCTGGGAAGAGGGAACTCAGGGGGATTGGGAGGATGGGGTGGGTGAGGCTCACTCCCTGTCAAGCTGGGCAAAGCGCCGTGTCTGAGAGGCAGGCAGCTAACCGCGAGCCGGCGGCGTTCCATTTACAATCTGGTGAGCCTGTATTGGTATAACTCGTATTGTGAGGCTTTTGAGATATCTTGTGACCTTGTGATTTTCCCCGTCTTTGGTGCTTTTGCCCCCTGTAGTGACAAGCAGTTAAAAAAACAAAAACAGAAAACACTCAGAAGGGCAGTGCTTGCTCAGGGATCTGCAGACAGGGCAGATGTCAAGCTCTCACCCAGTTCTGCTGTCGAATGGGGTGCAGGGAGGGGAAGAGGGACCAGGGCCTAGCAGGACAGGGGCAGCTGCAAGCCCCACCTAGAAGTACCCTGGTATGATAGGCTCTGGCTAGGAGCGCTGCAGTGTCACGAAGGCCCCCAGGGAGAGCTGGATCCCTTTGCCCTGATCCTCAGTCCCAGTCTGGAGCAACCTACAGGCCCTGGAGGAGGGGGCAGGACTCCAGTGCCCTTCCCACGAGGCCCTGCTGTACTGACCTCGAATCTGCAGGTTGGAGAAGGTCTGCACGGGAATGGTGATCCTGAAAGAAAGCAGAGGGAGAGGGCTGCCCGGGCTGCCTGGGACACCCCTAGGCTGGGTCTTGGTGCGGGGCCATCATGACAACTTGAACGCCCTTTTCCTTGCCAGGAAAGTCTAACTCCATCTCCTAGCTTTTTCCCCAGCAGCCAACGTGCTATCTGGAGTTCCAAACGTCTGCAAGGGGCTTGAGTGTTATCTGGGAGGGGCGCATGTCTATCTGAAGGAAGATGGAAAAGGGAGGGGAAAGTGGTGAAGAAAGTTCCAAGGAGGCAGAAGAGATGGGTGAGGTGAGGAGTCCAATCTTGGCTGGGAAGATGGGGAGTATGCCTCTTAGTTTGGAGGGTGACCCAAGTCCTTGGCCTTGAGGCCTAATCAATATTGGTTGAATCCATCCATCCATTCAGTCATCAAACATCTAGTGACTGCCTGCTATGTGTGAGGCAGGCACTGTGCTGGGCATTGAGGTGGGAAGGGATCTGCACACAAGGCTGAAAAAGACTCAGTCCCTGAAGGGAGCAAGATGAGCTCTACCGTGAGGCAGCAGGGAGACTTCCCCAGGGGCTGTGATGAGGGCTCACCGGTTCTCCTCGCCCTCTAGCAGCTTCCTGTAGGTGGCGATCCCGATGTCCAGGGCCAGCTTGACATTGAGCAGGTCCTGGTACTCCTGCAAGTGGCGGGCCATCTCGTCCTTGAGGCTCTGCCCCTCTTCCTCCAGCCGCGCCAGCGCCTCCTGATAACTGGCCGCCTCCCGCACGTGCCGCTCCTCCTGCTCGCGCATCTGCCTCTCCAGGGACTCGTTCTGTGGGATGGAGCCGGCCGGTCCCGCGGAGCCCCGACCCGACTTGGGGAGGTTTCGAGGCCCGGCCCCCGGCCCCAGGCCCCGCCTCTAGCCCGGGGGTAACGTTCAGGCCCCGCCCTCGACCCAGGTCCTCGTCCCTGGCCCTTCTCCCCTGGCATCTCCTGGGGTGGCCGTCCCTGCTCCGCCCGTCCCCGTCCTGCCCTGGCCGCGCTCACCGTGCCGCGCAGAGACTCCAGGTCGCAGGTCAAGGACTGCAACTGGCGCCGGTAGTCGTTGGCTTCGTGCTTGGCCTGGCGGAGCAGCTCCGCGTTGCGGGCAGCAGCGTCTGTCAGGTCTGCAAACTAGGTGGGGGACACATATGGGGGGCTGTGTGGGCCCATGGGCAGGCACGGGCTCTGGGAAATCAGGGAGGTGAGCAGCACCCCAGTTAACCCCAGGACGTTGGCCCTGGCTGGGACTTTTCCCAACAACTGTGACCCATGGATGCGGGCAGGGTAGCGGGCTGCCAGACCTCAGCACCTAGCACAACACCTGGTCAGCAAGCGAATGAATGAACAGTGCCACAGAATCCAGAACCTTCCACACTGACAGCTGCATCTGCGGGACTGAACGCTGTCGTCTTAGGCGAGCGGAGGCCTGGGTGTTTTGTGTGTTTTTGTTTTTTTGTTTTTTTTGTTTTATTTTGAGACAGAGTCTTGCTCTTGTCGCCCAGGTTGGAAGTCAGTGGCACAATCCCGGGTCACTGCAACCTCTGCCTCCCAGGTTCAAGCAATTCTCCTGCCCCAGCCACCTGAGTAGCTGGGATTACAGGCATGCGCCACTACACCCGGCTGATTTTGTATTTTTAGTAGAGACGGGGTTTCACCATGTTGACCAGGCTAGTCTTGAACTGCTGACCTCAGGTGATCCGCATGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACCTCGCCTGGCCTCACCCTGGGTTCTAATAGCCCTTTCTCCCCTGCCTGCAGGGAGGTCCTCCCAGCCCCATCGGGCCCTCACCCTGCTCAGACACCAGTGGCTTCTGCCACTCACACTCCTCAGCTAGGTGCCCTGGCTAGGCTAGCATCTTGGGGCCCTGCCTCTCTGTGCTTTTCTGCCTCCAGGCTCTGTCCTCCACTAGGAATGGCCCTCCCTTCTTCTCTTCCTGTCCACAGCGTGCCTGTCCTGCCTAGCCCAAATGCCCCCTCTACAGTGTCTTTCCTGGCTCCCACACTACATATAAGCTCTGAGCTGTGGTGTTCTCTACGGGCACTATGTTTGGGTGCACGTCAATATCACACCTTCCAGGTCAGACACCTCTCTGTGTCCTGGGGGGTGCCTGGCATATGGTAGAGGCTCAGTAACCCAAAACAGACTGGCAGAGGCATGGAATGCAGGCTCCCAAGTGAGATGTGCTAGAGTTGGAAATCCAACTCTACCACTTAGGAGCTGTGTGACTTTGAGCAAATTAGTTAACCTCTCTGGACTTCGGCTCTCTCATCTGTCAAAGAACAGCACCTACTTCATAGTAAGGTAATCCATGAAAAGCACAGGGCTTAGAACAGAACAGTATCAGCTACTACTAATAATAGCAATAGTAGCAGTAATAATAATGGGTACTTTTGAAAGCAATAGTGCCTGTGTGACCCTGGGCAAGCCATCTCACTTCTCTGGTGAAAGTCAGTCACCTGGAGAGGATATTCTCCCAGCTTCCTCCACCCTCCTTCCCCCATTCTCTTGTACAGAGCAAGAAGGGCTGCCTGGAGGAGGCAGGCTGGCCCACAGGCAGGGCTACCTTGGAGCGGTACCACTCTTCGGCTTCATGCATGTTGCTGGACGCCATTGCCTCATA
Task1_train_24762
This alteration occurs within gene GFAP, LOC130060994 (glial fibrillary acidic protein| ATAC-STARR-seq lymphoblastoid active region 12266) located on Chromosome 17. Is it associated with a disease or is it a benign variant?
Pathogenic; Alexander disease
CAGCCTCAGTTTCCTCATCTGTAAAATAAGGATGATGGGGCCTACTTCTCTAGGTGGGAGAGAGGAGACAATTAACTAAAATAAAGGCTGTTAAACATGTGGCACATATTAGTGCTCAATACACATAGGTCCCTTTCCTGTCCCCTTTCCTCTTTCCTACTTCTCTCTGCCATTTATCTGTGCTTTAGTGACCTGTGACTATCTAGGATTTGGCAGTATTACCTCTACTAGTCAGCCTGGTTAGCCTTTCTGATGCTGAATTAAGTCCTGAGACATGCATATCTAGTGGTCCTAAATATTCTAGTCCAGAAGAAGAGGAATTTTGTTCCTTAGCTAAGAATCATTTCAGGGCCAATGCAAGTAAAAAGTAATTTAGCTCCCCCCTCCCCCCGCCCCGCCCGAGAGAGAAAAATATAACACGTCACATTCACTAATATTTAACATTAAGAGCAGGGAACATAAAACTTTATTCACTGCAAGAGCTGCGGTCCTGAGGGAAGAATCCTCTGAACTGAGTCAGCACTGAGCTGAGCGATGGAGCCTCAGGGATGAAAGAATAAAGCAGAGAGCCTGGCGTCCAGGCACAGCGAGACCCAAGGGGCCCTCCCAGTGACAGGAAGAGGTGAGACAGAGGCTGCTGCTTGCTCAGAGGCCCCAGAGCAGCTCCACTGCGCACCCAAGGACTCACCACCTTTACCACTAACAAGCTCTGCCAGTTTAATGTACAGTTACTCTGTACCACGTCCTGGGCTGGGCACTGCAGTTCCTGGGAAAATGACGCAGTCCAGGCCCTTTAGGGGAAGCCTGGGAAGAGGGAACTCAGGGGGATTGGGAGGATGGGGTGGGTGAGGCTCACTCCCTGTCAAGCTGGGCAAAGCGCCGTGTCTGAGAGGCAGGCAGCTAACCGCGAGCCGGCGGCGTTCCATTTACAATCTGGTGAGCCTGTATTGGTATAACTCGTATTGTGAGGCTTTTGAGATATCTTGTGACCTTGTGATTTTCCCCGTCTTTGGTGCTTTTGCCCCCTGTAGTGACAAGCAGTTAAAAAAACAAAAACAGAAAACACTCAGAAGGGCAGTGCTTGCTCAGGGATCTGCAGACAGGGCAGATGTCAAGCTCTCACCCAGTTCTGCTGTCGAATGGGGTGCAGGGAGGGGAAGAGGGACCAGGGCCTAGCAGGACAGGGGCAGCTGCAAGCCCCACCTAGAAGTACCCTGGTATGATAGGCTCTGGCTAGGAGCGCTGCAGTGTCACGAAGGCCCCCAGGGAGAGCTGGATCCCTTTGCCCTGATCCTCAGTCCCAGTCTGGAGCAACCTACAGGCCCTGGAGGAGGGGGCAGGACTCCAGTGCCCTTCCCACGAGGCCCTGCTGTACTGACCTCGAATCTGCAGGTTGGAGAAGGTCTGCACGGGAATGGTGATCCTGAAAGAAAGCAGAGGGAGAGGGCTGCCCGGGCTGCCTGGGACACCCCTAGGCTGGGTCTTGGTGCGGGGCCATCATGACAACTTGAACGCCCTTTTCCTTGCCAGGAAAGTCTAACTCCATCTCCTAGCTTTTTCCCCAGCAGCCAACGTGCTATCTGGAGTTCCAAACGTCTGCAAGGGGCTTGAGTGTTATCTGGGAGGGGCGCATGTCTATCTGAAGGAAGATGGAAAAGGGAGGGGAAAGTGGTGAAGAAAGTTCCAAGGAGGCAGAAGAGATGGGTGAGGTGAGGAGTCCAATCTTGGCTGGGAAGATGGGGAGTATGCCTCTTAGTTTGGAGGGTGACCCAAGTCCTTGGCCTTGAGGCCTAATCAATATTGGTTGAATCCATCCATCCATTCAGTCATCAAACATCTAGTGACTGCCTGCTATGTGTGAGGCAGGCACTGTGCTGGGCATTGAGGTGGGAAGGGATCTGCACACAAGGCTGAAAAAGACTCAGTCCCTGAAGGGAGCAAGATGAGCTCTACCGTGAGGCAGCAGGGAGACTTCCCCAGGGGCTGTGATGAGGGCTCACCGGTTCTCCTCGCCCTCTAGCAGCTTCCTGTAGGTGGCGATCTCGATGTCCAGGGCCAGCTTGACATTGAGCAGGTCCTGGTACTCCTGCAAGTGGCGGGCCATCTCGTCCTTGAGGCTCTGCCCCTCTTCCTCCAGCCGCGCCAGCGCCTCCTGATAACTGGCCGCCTCCCGCACGTGCCGCTCCTCCTGCTCGCGCATCTGCCTCTCCAGGGACTCGTTCTGTGGGATGGAGCCGGCCGGTCCCGCGGAGCCCCGACCCGACTTGGGGAGGTTTCGAGGCCCGGCCCCCGGCCCCAGGCCCCGCCTCTAGCCCGGGGGTAACGTTCAGGCCCCGCCCTCGACCCAGGTCCTCGTCCCTGGCCCTTCTCCCCTGGCATCTCCTGGGGTGGCCGTCCCTGCTCCGCCCGTCCCCGTCCTGCCCTGGCCGCGCTCACCGTGCCGCGCAGAGACTCCAGGTCGCAGGTCAAGGACTGCAACTGGCGCCGGTAGTCGTTGGCTTCGTGCTTGGCCTGGCGGAGCAGCTCCGCGTTGCGGGCAGCAGCGTCTGTCAGGTCTGCAAACTAGGTGGGGGACACATATGGGGGGCTGTGTGGGCCCATGGGCAGGCACGGGCTCTGGGAAATCAGGGAGGTGAGCAGCACCCCAGTTAACCCCAGGACGTTGGCCCTGGCTGGGACTTTTCCCAACAACTGTGACCCATGGATGCGGGCAGGGTAGCGGGCTGCCAGACCTCAGCACCTAGCACAACACCTGGTCAGCAAGCGAATGAATGAACAGTGCCACAGAATCCAGAACCTTCCACACTGACAGCTGCATCTGCGGGACTGAACGCTGTCGTCTTAGGCGAGCGGAGGCCTGGGTGTTTTGTGTGTTTTTGTTTTTTTGTTTTTTTTGTTTTATTTTGAGACAGAGTCTTGCTCTTGTCGCCCAGGTTGGAAGTCAGTGGCACAATCCCGGGTCACTGCAACCTCTGCCTCCCAGGTTCAAGCAATTCTCCTGCCCCAGCCACCTGAGTAGCTGGGATTACAGGCATGCGCCACTACACCCGGCTGATTTTGTATTTTTAGTAGAGACGGGGTTTCACCATGTTGACCAGGCTAGTCTTGAACTGCTGACCTCAGGTGATCCGCATGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACCTCGCCTGGCCTCACCCTGGGTTCTAATAGCCCTTTCTCCCCTGCCTGCAGGGAGGTCCTCCCAGCCCCATCGGGCCCTCACCCTGCTCAGACACCAGTGGCTTCTGCCACTCACACTCCTCAGCTAGGTGCCCTGGCTAGGCTAGCATCTTGGGGCCCTGCCTCTCTGTGCTTTTCTGCCTCCAGGCTCTGTCCTCCACTAGGAATGGCCCTCCCTTCTTCTCTTCCTGTCCACAGCGTGCCTGTCCTGCCTAGCCCAAATGCCCCCTCTACAGTGTCTTTCCTGGCTCCCACACTACATATAAGCTCTGAGCTGTGGTGTTCTCTACGGGCACTATGTTTGGGTGCACGTCAATATCACACCTTCCAGGTCAGACACCTCTCTGTGTCCTGGGGGGTGCCTGGCATATGGTAGAGGCTCAGTAACCCAAAACAGACTGGCAGAGGCATGGAATGCAGGCTCCCAAGTGAGATGTGCTAGAGTTGGAAATCCAACTCTACCACTTAGGAGCTGTGTGACTTTGAGCAAATTAGTTAACCTCTCTGGACTTCGGCTCTCTCATCTGTCAAAGAACAGCACCTACTTCATAGTAAGGTAATCCATGAAAAGCACAGGGCTTAGAACAGAACAGTATCAGCTACTACTAATAATAGCAATAGTAGCAGTAATAATAATGGGTACTTTTGAAAGCAATAGTGCCTGTGTGACCCTGGGCAAGCCATCTCACTTCTCTGGTGAAAGTCAGTCACCTGGAGAGGATATTCTCCCAGCTTCCTCCACCCTCCTTCCCCCATTCTCTTGTACAGAGCAAGAAGGGCTGCCTGGAGGAGGCAGGCTGGCCCACAGGCAGGGCTACCTTGGAGCGGTACCACTCTTCGGCTTCATGCATGTTGCTGGACGCCATTGCCTCATACTGCGT
CAGCCTCAGTTTCCTCATCTGTAAAATAAGGATGATGGGGCCTACTTCTCTAGGTGGGAGAGAGGAGACAATTAACTAAAATAAAGGCTGTTAAACATGTGGCACATATTAGTGCTCAATACACATAGGTCCCTTTCCTGTCCCCTTTCCTCTTTCCTACTTCTCTCTGCCATTTATCTGTGCTTTAGTGACCTGTGACTATCTAGGATTTGGCAGTATTACCTCTACTAGTCAGCCTGGTTAGCCTTTCTGATGCTGAATTAAGTCCTGAGACATGCATATCTAGTGGTCCTAAATATTCTAGTCCAGAAGAAGAGGAATTTTGTTCCTTAGCTAAGAATCATTTCAGGGCCAATGCAAGTAAAAAGTAATTTAGCTCCCCCCTCCCCCCGCCCCGCCCGAGAGAGAAAAATATAACACGTCACATTCACTAATATTTAACATTAAGAGCAGGGAACATAAAACTTTATTCACTGCAAGAGCTGCGGTCCTGAGGGAAGAATCCTCTGAACTGAGTCAGCACTGAGCTGAGCGATGGAGCCTCAGGGATGAAAGAATAAAGCAGAGAGCCTGGCGTCCAGGCACAGCGAGACCCAAGGGGCCCTCCCAGTGACAGGAAGAGGTGAGACAGAGGCTGCTGCTTGCTCAGAGGCCCCAGAGCAGCTCCACTGCGCACCCAAGGACTCACCACCTTTACCACTAACAAGCTCTGCCAGTTTAATGTACAGTTACTCTGTACCACGTCCTGGGCTGGGCACTGCAGTTCCTGGGAAAATGACGCAGTCCAGGCCCTTTAGGGGAAGCCTGGGAAGAGGGAACTCAGGGGGATTGGGAGGATGGGGTGGGTGAGGCTCACTCCCTGTCAAGCTGGGCAAAGCGCCGTGTCTGAGAGGCAGGCAGCTAACCGCGAGCCGGCGGCGTTCCATTTACAATCTGGTGAGCCTGTATTGGTATAACTCGTATTGTGAGGCTTTTGAGATATCTTGTGACCTTGTGATTTTCCCCGTCTTTGGTGCTTTTGCCCCCTGTAGTGACAAGCAGTTAAAAAAACAAAAACAGAAAACACTCAGAAGGGCAGTGCTTGCTCAGGGATCTGCAGACAGGGCAGATGTCAAGCTCTCACCCAGTTCTGCTGTCGAATGGGGTGCAGGGAGGGGAAGAGGGACCAGGGCCTAGCAGGACAGGGGCAGCTGCAAGCCCCACCTAGAAGTACCCTGGTATGATAGGCTCTGGCTAGGAGCGCTGCAGTGTCACGAAGGCCCCCAGGGAGAGCTGGATCCCTTTGCCCTGATCCTCAGTCCCAGTCTGGAGCAACCTACAGGCCCTGGAGGAGGGGGCAGGACTCCAGTGCCCTTCCCACGAGGCCCTGCTGTACTGACCTCGAATCTGCAGGTTGGAGAAGGTCTGCACGGGAATGGTGATCCTGAAAGAAAGCAGAGGGAGAGGGCTGCCCGGGCTGCCTGGGACACCCCTAGGCTGGGTCTTGGTGCGGGGCCATCATGACAACTTGAACGCCCTTTTCCTTGCCAGGAAAGTCTAACTCCATCTCCTAGCTTTTTCCCCAGCAGCCAACGTGCTATCTGGAGTTCCAAACGTCTGCAAGGGGCTTGAGTGTTATCTGGGAGGGGCGCATGTCTATCTGAAGGAAGATGGAAAAGGGAGGGGAAAGTGGTGAAGAAAGTTCCAAGGAGGCAGAAGAGATGGGTGAGGTGAGGAGTCCAATCTTGGCTGGGAAGATGGGGAGTATGCCTCTTAGTTTGGAGGGTGACCCAAGTCCTTGGCCTTGAGGCCTAATCAATATTGGTTGAATCCATCCATCCATTCAGTCATCAAACATCTAGTGACTGCCTGCTATGTGTGAGGCAGGCACTGTGCTGGGCATTGAGGTGGGAAGGGATCTGCACACAAGGCTGAAAAAGACTCAGTCCCTGAAGGGAGCAAGATGAGCTCTACCGTGAGGCAGCAGGGAGACTTCCCCAGGGGCTGTGATGAGGGCTCACCGGTTCTCCTCGCCCTCTAGCAGCTTCCTGTAGGTGGCGATCTCGATGACCAGGGCCAGCTTGACATTGAGCAGGTCCTGGTACTCCTGCAAGTGGCGGGCCATCTCGTCCTTGAGGCTCTGCCCCTCTTCCTCCAGCCGCGCCAGCGCCTCCTGATAACTGGCCGCCTCCCGCACGTGCCGCTCCTCCTGCTCGCGCATCTGCCTCTCCAGGGACTCGTTCTGTGGGATGGAGCCGGCCGGTCCCGCGGAGCCCCGACCCGACTTGGGGAGGTTTCGAGGCCCGGCCCCCGGCCCCAGGCCCCGCCTCTAGCCCGGGGGTAACGTTCAGGCCCCGCCCTCGACCCAGGTCCTCGTCCCTGGCCCTTCTCCCCTGGCATCTCCTGGGGTGGCCGTCCCTGCTCCGCCCGTCCCCGTCCTGCCCTGGCCGCGCTCACCGTGCCGCGCAGAGACTCCAGGTCGCAGGTCAAGGACTGCAACTGGCGCCGGTAGTCGTTGGCTTCGTGCTTGGCCTGGCGGAGCAGCTCCGCGTTGCGGGCAGCAGCGTCTGTCAGGTCTGCAAACTAGGTGGGGGACACATATGGGGGGCTGTGTGGGCCCATGGGCAGGCACGGGCTCTGGGAAATCAGGGAGGTGAGCAGCACCCCAGTTAACCCCAGGACGTTGGCCCTGGCTGGGACTTTTCCCAACAACTGTGACCCATGGATGCGGGCAGGGTAGCGGGCTGCCAGACCTCAGCACCTAGCACAACACCTGGTCAGCAAGCGAATGAATGAACAGTGCCACAGAATCCAGAACCTTCCACACTGACAGCTGCATCTGCGGGACTGAACGCTGTCGTCTTAGGCGAGCGGAGGCCTGGGTGTTTTGTGTGTTTTTGTTTTTTTGTTTTTTTTGTTTTATTTTGAGACAGAGTCTTGCTCTTGTCGCCCAGGTTGGAAGTCAGTGGCACAATCCCGGGTCACTGCAACCTCTGCCTCCCAGGTTCAAGCAATTCTCCTGCCCCAGCCACCTGAGTAGCTGGGATTACAGGCATGCGCCACTACACCCGGCTGATTTTGTATTTTTAGTAGAGACGGGGTTTCACCATGTTGACCAGGCTAGTCTTGAACTGCTGACCTCAGGTGATCCGCATGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACCTCGCCTGGCCTCACCCTGGGTTCTAATAGCCCTTTCTCCCCTGCCTGCAGGGAGGTCCTCCCAGCCCCATCGGGCCCTCACCCTGCTCAGACACCAGTGGCTTCTGCCACTCACACTCCTCAGCTAGGTGCCCTGGCTAGGCTAGCATCTTGGGGCCCTGCCTCTCTGTGCTTTTCTGCCTCCAGGCTCTGTCCTCCACTAGGAATGGCCCTCCCTTCTTCTCTTCCTGTCCACAGCGTGCCTGTCCTGCCTAGCCCAAATGCCCCCTCTACAGTGTCTTTCCTGGCTCCCACACTACATATAAGCTCTGAGCTGTGGTGTTCTCTACGGGCACTATGTTTGGGTGCACGTCAATATCACACCTTCCAGGTCAGACACCTCTCTGTGTCCTGGGGGGTGCCTGGCATATGGTAGAGGCTCAGTAACCCAAAACAGACTGGCAGAGGCATGGAATGCAGGCTCCCAAGTGAGATGTGCTAGAGTTGGAAATCCAACTCTACCACTTAGGAGCTGTGTGACTTTGAGCAAATTAGTTAACCTCTCTGGACTTCGGCTCTCTCATCTGTCAAAGAACAGCACCTACTTCATAGTAAGGTAATCCATGAAAAGCACAGGGCTTAGAACAGAACAGTATCAGCTACTACTAATAATAGCAATAGTAGCAGTAATAATAATGGGTACTTTTGAAAGCAATAGTGCCTGTGTGACCCTGGGCAAGCCATCTCACTTCTCTGGTGAAAGTCAGTCACCTGGAGAGGATATTCTCCCAGCTTCCTCCACCCTCCTTCCCCCATTCTCTTGTACAGAGCAAGAAGGGCTGCCTGGAGGAGGCAGGCTGGCCCACAGGCAGGGCTACCTTGGAGCGGTACCACTCTTCGGCTTCATGCATGTTGCTGGACGCCATTGCCTCATACTGCGT
Task1_train_24763
A mutation in GFAP (glial fibrillary acidic protein), located on Chromosome 17, is being studied. Determine whether it’s pathogenic or benign, and specify the linked disease.
Pathogenic; Alexander disease
AATAAGGATGATGGGGCCTACTTCTCTAGGTGGGAGAGAGGAGACAATTAACTAAAATAAAGGCTGTTAAACATGTGGCACATATTAGTGCTCAATACACATAGGTCCCTTTCCTGTCCCCTTTCCTCTTTCCTACTTCTCTCTGCCATTTATCTGTGCTTTAGTGACCTGTGACTATCTAGGATTTGGCAGTATTACCTCTACTAGTCAGCCTGGTTAGCCTTTCTGATGCTGAATTAAGTCCTGAGACATGCATATCTAGTGGTCCTAAATATTCTAGTCCAGAAGAAGAGGAATTTTGTTCCTTAGCTAAGAATCATTTCAGGGCCAATGCAAGTAAAAAGTAATTTAGCTCCCCCCTCCCCCCGCCCCGCCCGAGAGAGAAAAATATAACACGTCACATTCACTAATATTTAACATTAAGAGCAGGGAACATAAAACTTTATTCACTGCAAGAGCTGCGGTCCTGAGGGAAGAATCCTCTGAACTGAGTCAGCACTGAGCTGAGCGATGGAGCCTCAGGGATGAAAGAATAAAGCAGAGAGCCTGGCGTCCAGGCACAGCGAGACCCAAGGGGCCCTCCCAGTGACAGGAAGAGGTGAGACAGAGGCTGCTGCTTGCTCAGAGGCCCCAGAGCAGCTCCACTGCGCACCCAAGGACTCACCACCTTTACCACTAACAAGCTCTGCCAGTTTAATGTACAGTTACTCTGTACCACGTCCTGGGCTGGGCACTGCAGTTCCTGGGAAAATGACGCAGTCCAGGCCCTTTAGGGGAAGCCTGGGAAGAGGGAACTCAGGGGGATTGGGAGGATGGGGTGGGTGAGGCTCACTCCCTGTCAAGCTGGGCAAAGCGCCGTGTCTGAGAGGCAGGCAGCTAACCGCGAGCCGGCGGCGTTCCATTTACAATCTGGTGAGCCTGTATTGGTATAACTCGTATTGTGAGGCTTTTGAGATATCTTGTGACCTTGTGATTTTCCCCGTCTTTGGTGCTTTTGCCCCCTGTAGTGACAAGCAGTTAAAAAAACAAAAACAGAAAACACTCAGAAGGGCAGTGCTTGCTCAGGGATCTGCAGACAGGGCAGATGTCAAGCTCTCACCCAGTTCTGCTGTCGAATGGGGTGCAGGGAGGGGAAGAGGGACCAGGGCCTAGCAGGACAGGGGCAGCTGCAAGCCCCACCTAGAAGTACCCTGGTATGATAGGCTCTGGCTAGGAGCGCTGCAGTGTCACGAAGGCCCCCAGGGAGAGCTGGATCCCTTTGCCCTGATCCTCAGTCCCAGTCTGGAGCAACCTACAGGCCCTGGAGGAGGGGGCAGGACTCCAGTGCCCTTCCCACGAGGCCCTGCTGTACTGACCTCGAATCTGCAGGTTGGAGAAGGTCTGCACGGGAATGGTGATCCTGAAAGAAAGCAGAGGGAGAGGGCTGCCCGGGCTGCCTGGGACACCCCTAGGCTGGGTCTTGGTGCGGGGCCATCATGACAACTTGAACGCCCTTTTCCTTGCCAGGAAAGTCTAACTCCATCTCCTAGCTTTTTCCCCAGCAGCCAACGTGCTATCTGGAGTTCCAAACGTCTGCAAGGGGCTTGAGTGTTATCTGGGAGGGGCGCATGTCTATCTGAAGGAAGATGGAAAAGGGAGGGGAAAGTGGTGAAGAAAGTTCCAAGGAGGCAGAAGAGATGGGTGAGGTGAGGAGTCCAATCTTGGCTGGGAAGATGGGGAGTATGCCTCTTAGTTTGGAGGGTGACCCAAGTCCTTGGCCTTGAGGCCTAATCAATATTGGTTGAATCCATCCATCCATTCAGTCATCAAACATCTAGTGACTGCCTGCTATGTGTGAGGCAGGCACTGTGCTGGGCATTGAGGTGGGAAGGGATCTGCACACAAGGCTGAAAAAGACTCAGTCCCTGAAGGGAGCAAGATGAGCTCTACCGTGAGGCAGCAGGGAGACTTCCCCAGGGGCTGTGATGAGGGCTCACCGGTTCTCCTCGCCCTCTAGCAGCTTCCTGTAGGTGGCGATCTCGATGTCCAGGGCCAGCTTGACATTGAGCAGGTCCTGGTACTCCTGCAAGTGGCGGGCCATCTCGTCCTTGAGGCTCTGCCCCTCTTCCTCCAGCCGCGCCAGCGCCTCCTGATAACTGGCCGCCTCCCGCACGTGCCGCTCCTCCTGCTCGCGCATCTGCCTCTCCAGGGACTCGTTCTGTGGGATGGAGCCGGCCGGTCCCGCGGAGCCCCGACCCGACTTGGGGAGGTTTCGAGGCCCGGCCCCCGGCCCCAGGCCCCGCCTCTAGCCCGGGGGTAACGTTCAGGCCCCGCCCTCGACCCAGGTCCTCGTCCCTGGCCCTTCTCCCCTGGCATCTCCTGGGGTGGCCGTCCCTGCTCCGCCCGTCCCCGTCCTGCCCTGGCCGCGCTCACCGTGCCGCGCAGAGACTCCAGGTCGCAGGTCAAGGACTGCAACTGGCGCCGGTAGTCGTTGGCTTCGTGCTTGGCCTGGCGGAGCAGCTCCGCGTTGCGGGCAGCAGCGTCTGTCAGGTCTGCAAACTAGGTGGGGGACACATATGGGGGGCTGTGTGGGCCCATGGGCAGGCACGGGCTCTGGGAAATCAGGGAGGTGAGCAGCACCCCAGTTAACCCCAGGACGTTGGCCCTGGCTGGGACTTTTCCCAACAACTGTGACCCATGGATGCGGGCAGGGTAGCGGGCTGCCAGACCTCAGCACCTAGCACAACACCTGGTCAGCAAGCGAATGAATGAACAGTGCCACAGAATCCAGAACCTTCCACACTGACAGCTGCATCTGCGGGACTGAACGCTGTCGTCTTAGGCGAGCGGAGGCCTGGGTGTTTTGTGTGTTTTTGTTTTTTTGTTTTTTTTGTTTTATTTTGAGACAGAGTCTTGCTCTTGTCGCCCAGGTTGGAAGTCAGTGGCACAATCCCGGGTCACTGCAACCTCTGCCTCCCAGGTTCAAGCAATTCTCCTGCCCCAGCCACCTGAGTAGCTGGGATTACAGGCATGCGCCACTACACCCGGCTGATTTTGTATTTTTAGTAGAGACGGGGTTTCACCATGTTGACCAGGCTAGTCTTGAACTGCTGACCTCAGGTGATCCGCATGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACCTCGCCTGGCCTCACCCTGGGTTCTAATAGCCCTTTCTCCCCTGCCTGCAGGGAGGTCCTCCCAGCCCCATCGGGCCCTCACCCTGCTCAGACACCAGTGGCTTCTGCCACTCACACTCCTCAGCTAGGTGCCCTGGCTAGGCTAGCATCTTGGGGCCCTGCCTCTCTGTGCTTTTCTGCCTCCAGGCTCTGTCCTCCACTAGGAATGGCCCTCCCTTCTTCTCTTCCTGTCCACAGCGTGCCTGTCCTGCCTAGCCCAAATGCCCCCTCTACAGTGTCTTTCCTGGCTCCCACACTACATATAAGCTCTGAGCTGTGGTGTTCTCTACGGGCACTATGTTTGGGTGCACGTCAATATCACACCTTCCAGGTCAGACACCTCTCTGTGTCCTGGGGGGTGCCTGGCATATGGTAGAGGCTCAGTAACCCAAAACAGACTGGCAGAGGCATGGAATGCAGGCTCCCAAGTGAGATGTGCTAGAGTTGGAAATCCAACTCTACCACTTAGGAGCTGTGTGACTTTGAGCAAATTAGTTAACCTCTCTGGACTTCGGCTCTCTCATCTGTCAAAGAACAGCACCTACTTCATAGTAAGGTAATCCATGAAAAGCACAGGGCTTAGAACAGAACAGTATCAGCTACTACTAATAATAGCAATAGTAGCAGTAATAATAATGGGTACTTTTGAAAGCAATAGTGCCTGTGTGACCCTGGGCAAGCCATCTCACTTCTCTGGTGAAAGTCAGTCACCTGGAGAGGATATTCTCCCAGCTTCCTCCACCCTCCTTCCCCCATTCTCTTGTACAGAGCAAGAAGGGCTGCCTGGAGGAGGCAGGCTGGCCCACAGGCAGGGCTACCTTGGAGCGGTACCACTCTTCGGCTTCATGCATGTTGCTGGACGCCATTGCCTCATACTGCGTGCGGATCTCTTTCAGGGCTGCGGT
AATAAGGATGATGGGGCCTACTTCTCTAGGTGGGAGAGAGGAGACAATTAACTAAAATAAAGGCTGTTAAACATGTGGCACATATTAGTGCTCAATACACATAGGTCCCTTTCCTGTCCCCTTTCCTCTTTCCTACTTCTCTCTGCCATTTATCTGTGCTTTAGTGACCTGTGACTATCTAGGATTTGGCAGTATTACCTCTACTAGTCAGCCTGGTTAGCCTTTCTGATGCTGAATTAAGTCCTGAGACATGCATATCTAGTGGTCCTAAATATTCTAGTCCAGAAGAAGAGGAATTTTGTTCCTTAGCTAAGAATCATTTCAGGGCCAATGCAAGTAAAAAGTAATTTAGCTCCCCCCTCCCCCCGCCCCGCCCGAGAGAGAAAAATATAACACGTCACATTCACTAATATTTAACATTAAGAGCAGGGAACATAAAACTTTATTCACTGCAAGAGCTGCGGTCCTGAGGGAAGAATCCTCTGAACTGAGTCAGCACTGAGCTGAGCGATGGAGCCTCAGGGATGAAAGAATAAAGCAGAGAGCCTGGCGTCCAGGCACAGCGAGACCCAAGGGGCCCTCCCAGTGACAGGAAGAGGTGAGACAGAGGCTGCTGCTTGCTCAGAGGCCCCAGAGCAGCTCCACTGCGCACCCAAGGACTCACCACCTTTACCACTAACAAGCTCTGCCAGTTTAATGTACAGTTACTCTGTACCACGTCCTGGGCTGGGCACTGCAGTTCCTGGGAAAATGACGCAGTCCAGGCCCTTTAGGGGAAGCCTGGGAAGAGGGAACTCAGGGGGATTGGGAGGATGGGGTGGGTGAGGCTCACTCCCTGTCAAGCTGGGCAAAGCGCCGTGTCTGAGAGGCAGGCAGCTAACCGCGAGCCGGCGGCGTTCCATTTACAATCTGGTGAGCCTGTATTGGTATAACTCGTATTGTGAGGCTTTTGAGATATCTTGTGACCTTGTGATTTTCCCCGTCTTTGGTGCTTTTGCCCCCTGTAGTGACAAGCAGTTAAAAAAACAAAAACAGAAAACACTCAGAAGGGCAGTGCTTGCTCAGGGATCTGCAGACAGGGCAGATGTCAAGCTCTCACCCAGTTCTGCTGTCGAATGGGGTGCAGGGAGGGGAAGAGGGACCAGGGCCTAGCAGGACAGGGGCAGCTGCAAGCCCCACCTAGAAGTACCCTGGTATGATAGGCTCTGGCTAGGAGCGCTGCAGTGTCACGAAGGCCCCCAGGGAGAGCTGGATCCCTTTGCCCTGATCCTCAGTCCCAGTCTGGAGCAACCTACAGGCCCTGGAGGAGGGGGCAGGACTCCAGTGCCCTTCCCACGAGGCCCTGCTGTACTGACCTCGAATCTGCAGGTTGGAGAAGGTCTGCACGGGAATGGTGATCCTGAAAGAAAGCAGAGGGAGAGGGCTGCCCGGGCTGCCTGGGACACCCCTAGGCTGGGTCTTGGTGCGGGGCCATCATGACAACTTGAACGCCCTTTTCCTTGCCAGGAAAGTCTAACTCCATCTCCTAGCTTTTTCCCCAGCAGCCAACGTGCTATCTGGAGTTCCAAACGTCTGCAAGGGGCTTGAGTGTTATCTGGGAGGGGCGCATGTCTATCTGAAGGAAGATGGAAAAGGGAGGGGAAAGTGGTGAAGAAAGTTCCAAGGAGGCAGAAGAGATGGGTGAGGTGAGGAGTCCAATCTTGGCTGGGAAGATGGGGAGTATGCCTCTTAGTTTGGAGGGTGACCCAAGTCCTTGGCCTTGAGGCCTAATCAATATTGGTTGAATCCATCCATCCATTCAGTCATCAAACATCTAGTGACTGCCTGCTATGTGTGAGGCAGGCACTGTGCTGGGCATTGAGGTGGGAAGGGATCTGCACACAAGGCTGAAAAAGACTCAGTCCCTGAAGGGAGCAAGATGAGCTCTACCGTGAGGCAGCAGGGAGACTTCCCCAGGGGCTGTGATGAGGGCTCACCGGTTCTCCTCGCCCTCTAGCAGCTTCCTGTAGGTGGCGATCTCGATGTCCAGGGCCAGCTTGACATTGAGCGGGTCCTGGTACTCCTGCAAGTGGCGGGCCATCTCGTCCTTGAGGCTCTGCCCCTCTTCCTCCAGCCGCGCCAGCGCCTCCTGATAACTGGCCGCCTCCCGCACGTGCCGCTCCTCCTGCTCGCGCATCTGCCTCTCCAGGGACTCGTTCTGTGGGATGGAGCCGGCCGGTCCCGCGGAGCCCCGACCCGACTTGGGGAGGTTTCGAGGCCCGGCCCCCGGCCCCAGGCCCCGCCTCTAGCCCGGGGGTAACGTTCAGGCCCCGCCCTCGACCCAGGTCCTCGTCCCTGGCCCTTCTCCCCTGGCATCTCCTGGGGTGGCCGTCCCTGCTCCGCCCGTCCCCGTCCTGCCCTGGCCGCGCTCACCGTGCCGCGCAGAGACTCCAGGTCGCAGGTCAAGGACTGCAACTGGCGCCGGTAGTCGTTGGCTTCGTGCTTGGCCTGGCGGAGCAGCTCCGCGTTGCGGGCAGCAGCGTCTGTCAGGTCTGCAAACTAGGTGGGGGACACATATGGGGGGCTGTGTGGGCCCATGGGCAGGCACGGGCTCTGGGAAATCAGGGAGGTGAGCAGCACCCCAGTTAACCCCAGGACGTTGGCCCTGGCTGGGACTTTTCCCAACAACTGTGACCCATGGATGCGGGCAGGGTAGCGGGCTGCCAGACCTCAGCACCTAGCACAACACCTGGTCAGCAAGCGAATGAATGAACAGTGCCACAGAATCCAGAACCTTCCACACTGACAGCTGCATCTGCGGGACTGAACGCTGTCGTCTTAGGCGAGCGGAGGCCTGGGTGTTTTGTGTGTTTTTGTTTTTTTGTTTTTTTTGTTTTATTTTGAGACAGAGTCTTGCTCTTGTCGCCCAGGTTGGAAGTCAGTGGCACAATCCCGGGTCACTGCAACCTCTGCCTCCCAGGTTCAAGCAATTCTCCTGCCCCAGCCACCTGAGTAGCTGGGATTACAGGCATGCGCCACTACACCCGGCTGATTTTGTATTTTTAGTAGAGACGGGGTTTCACCATGTTGACCAGGCTAGTCTTGAACTGCTGACCTCAGGTGATCCGCATGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACCTCGCCTGGCCTCACCCTGGGTTCTAATAGCCCTTTCTCCCCTGCCTGCAGGGAGGTCCTCCCAGCCCCATCGGGCCCTCACCCTGCTCAGACACCAGTGGCTTCTGCCACTCACACTCCTCAGCTAGGTGCCCTGGCTAGGCTAGCATCTTGGGGCCCTGCCTCTCTGTGCTTTTCTGCCTCCAGGCTCTGTCCTCCACTAGGAATGGCCCTCCCTTCTTCTCTTCCTGTCCACAGCGTGCCTGTCCTGCCTAGCCCAAATGCCCCCTCTACAGTGTCTTTCCTGGCTCCCACACTACATATAAGCTCTGAGCTGTGGTGTTCTCTACGGGCACTATGTTTGGGTGCACGTCAATATCACACCTTCCAGGTCAGACACCTCTCTGTGTCCTGGGGGGTGCCTGGCATATGGTAGAGGCTCAGTAACCCAAAACAGACTGGCAGAGGCATGGAATGCAGGCTCCCAAGTGAGATGTGCTAGAGTTGGAAATCCAACTCTACCACTTAGGAGCTGTGTGACTTTGAGCAAATTAGTTAACCTCTCTGGACTTCGGCTCTCTCATCTGTCAAAGAACAGCACCTACTTCATAGTAAGGTAATCCATGAAAAGCACAGGGCTTAGAACAGAACAGTATCAGCTACTACTAATAATAGCAATAGTAGCAGTAATAATAATGGGTACTTTTGAAAGCAATAGTGCCTGTGTGACCCTGGGCAAGCCATCTCACTTCTCTGGTGAAAGTCAGTCACCTGGAGAGGATATTCTCCCAGCTTCCTCCACCCTCCTTCCCCCATTCTCTTGTACAGAGCAAGAAGGGCTGCCTGGAGGAGGCAGGCTGGCCCACAGGCAGGGCTACCTTGGAGCGGTACCACTCTTCGGCTTCATGCATGTTGCTGGACGCCATTGCCTCATACTGCGTGCGGATCTCTTTCAGGGCTGCGGT
Task1_train_24764
Here is a variant affecting GFAP (glial fibrillary acidic protein) on Chromosome 17. Please identify whether it is a benign mutation or associated with a disorder.
Pathogenic; Alexander disease
GGCTGTTAAACATGTGGCACATATTAGTGCTCAATACACATAGGTCCCTTTCCTGTCCCCTTTCCTCTTTCCTACTTCTCTCTGCCATTTATCTGTGCTTTAGTGACCTGTGACTATCTAGGATTTGGCAGTATTACCTCTACTAGTCAGCCTGGTTAGCCTTTCTGATGCTGAATTAAGTCCTGAGACATGCATATCTAGTGGTCCTAAATATTCTAGTCCAGAAGAAGAGGAATTTTGTTCCTTAGCTAAGAATCATTTCAGGGCCAATGCAAGTAAAAAGTAATTTAGCTCCCCCCTCCCCCCGCCCCGCCCGAGAGAGAAAAATATAACACGTCACATTCACTAATATTTAACATTAAGAGCAGGGAACATAAAACTTTATTCACTGCAAGAGCTGCGGTCCTGAGGGAAGAATCCTCTGAACTGAGTCAGCACTGAGCTGAGCGATGGAGCCTCAGGGATGAAAGAATAAAGCAGAGAGCCTGGCGTCCAGGCACAGCGAGACCCAAGGGGCCCTCCCAGTGACAGGAAGAGGTGAGACAGAGGCTGCTGCTTGCTCAGAGGCCCCAGAGCAGCTCCACTGCGCACCCAAGGACTCACCACCTTTACCACTAACAAGCTCTGCCAGTTTAATGTACAGTTACTCTGTACCACGTCCTGGGCTGGGCACTGCAGTTCCTGGGAAAATGACGCAGTCCAGGCCCTTTAGGGGAAGCCTGGGAAGAGGGAACTCAGGGGGATTGGGAGGATGGGGTGGGTGAGGCTCACTCCCTGTCAAGCTGGGCAAAGCGCCGTGTCTGAGAGGCAGGCAGCTAACCGCGAGCCGGCGGCGTTCCATTTACAATCTGGTGAGCCTGTATTGGTATAACTCGTATTGTGAGGCTTTTGAGATATCTTGTGACCTTGTGATTTTCCCCGTCTTTGGTGCTTTTGCCCCCTGTAGTGACAAGCAGTTAAAAAAACAAAAACAGAAAACACTCAGAAGGGCAGTGCTTGCTCAGGGATCTGCAGACAGGGCAGATGTCAAGCTCTCACCCAGTTCTGCTGTCGAATGGGGTGCAGGGAGGGGAAGAGGGACCAGGGCCTAGCAGGACAGGGGCAGCTGCAAGCCCCACCTAGAAGTACCCTGGTATGATAGGCTCTGGCTAGGAGCGCTGCAGTGTCACGAAGGCCCCCAGGGAGAGCTGGATCCCTTTGCCCTGATCCTCAGTCCCAGTCTGGAGCAACCTACAGGCCCTGGAGGAGGGGGCAGGACTCCAGTGCCCTTCCCACGAGGCCCTGCTGTACTGACCTCGAATCTGCAGGTTGGAGAAGGTCTGCACGGGAATGGTGATCCTGAAAGAAAGCAGAGGGAGAGGGCTGCCCGGGCTGCCTGGGACACCCCTAGGCTGGGTCTTGGTGCGGGGCCATCATGACAACTTGAACGCCCTTTTCCTTGCCAGGAAAGTCTAACTCCATCTCCTAGCTTTTTCCCCAGCAGCCAACGTGCTATCTGGAGTTCCAAACGTCTGCAAGGGGCTTGAGTGTTATCTGGGAGGGGCGCATGTCTATCTGAAGGAAGATGGAAAAGGGAGGGGAAAGTGGTGAAGAAAGTTCCAAGGAGGCAGAAGAGATGGGTGAGGTGAGGAGTCCAATCTTGGCTGGGAAGATGGGGAGTATGCCTCTTAGTTTGGAGGGTGACCCAAGTCCTTGGCCTTGAGGCCTAATCAATATTGGTTGAATCCATCCATCCATTCAGTCATCAAACATCTAGTGACTGCCTGCTATGTGTGAGGCAGGCACTGTGCTGGGCATTGAGGTGGGAAGGGATCTGCACACAAGGCTGAAAAAGACTCAGTCCCTGAAGGGAGCAAGATGAGCTCTACCGTGAGGCAGCAGGGAGACTTCCCCAGGGGCTGTGATGAGGGCTCACCGGTTCTCCTCGCCCTCTAGCAGCTTCCTGTAGGTGGCGATCTCGATGTCCAGGGCCAGCTTGACATTGAGCAGGTCCTGGTACTCCTGCAAGTGGCGGGCCATCTCGTCCTTGAGGCTCTGCCCCTCTTCCTCCAGCCGCGCCAGCGCCTCCTGATAACTGGCCGCCTCCCGCACGTGCCGCTCCTCCTGCTCGCGCATCTGCCTCTCCAGGGACTCGTTCTGTGGGATGGAGCCGGCCGGTCCCGCGGAGCCCCGACCCGACTTGGGGAGGTTTCGAGGCCCGGCCCCCGGCCCCAGGCCCCGCCTCTAGCCCGGGGGTAACGTTCAGGCCCCGCCCTCGACCCAGGTCCTCGTCCCTGGCCCTTCTCCCCTGGCATCTCCTGGGGTGGCCGTCCCTGCTCCGCCCGTCCCCGTCCTGCCCTGGCCGCGCTCACCGTGCCGCGCAGAGACTCCAGGTCGCAGGTCAAGGACTGCAACTGGCGCCGGTAGTCGTTGGCTTCGTGCTTGGCCTGGCGGAGCAGCTCCGCGTTGCGGGCAGCAGCGTCTGTCAGGTCTGCAAACTAGGTGGGGGACACATATGGGGGGCTGTGTGGGCCCATGGGCAGGCACGGGCTCTGGGAAATCAGGGAGGTGAGCAGCACCCCAGTTAACCCCAGGACGTTGGCCCTGGCTGGGACTTTTCCCAACAACTGTGACCCATGGATGCGGGCAGGGTAGCGGGCTGCCAGACCTCAGCACCTAGCACAACACCTGGTCAGCAAGCGAATGAATGAACAGTGCCACAGAATCCAGAACCTTCCACACTGACAGCTGCATCTGCGGGACTGAACGCTGTCGTCTTAGGCGAGCGGAGGCCTGGGTGTTTTGTGTGTTTTTGTTTTTTTGTTTTTTTTGTTTTATTTTGAGACAGAGTCTTGCTCTTGTCGCCCAGGTTGGAAGTCAGTGGCACAATCCCGGGTCACTGCAACCTCTGCCTCCCAGGTTCAAGCAATTCTCCTGCCCCAGCCACCTGAGTAGCTGGGATTACAGGCATGCGCCACTACACCCGGCTGATTTTGTATTTTTAGTAGAGACGGGGTTTCACCATGTTGACCAGGCTAGTCTTGAACTGCTGACCTCAGGTGATCCGCATGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACCTCGCCTGGCCTCACCCTGGGTTCTAATAGCCCTTTCTCCCCTGCCTGCAGGGAGGTCCTCCCAGCCCCATCGGGCCCTCACCCTGCTCAGACACCAGTGGCTTCTGCCACTCACACTCCTCAGCTAGGTGCCCTGGCTAGGCTAGCATCTTGGGGCCCTGCCTCTCTGTGCTTTTCTGCCTCCAGGCTCTGTCCTCCACTAGGAATGGCCCTCCCTTCTTCTCTTCCTGTCCACAGCGTGCCTGTCCTGCCTAGCCCAAATGCCCCCTCTACAGTGTCTTTCCTGGCTCCCACACTACATATAAGCTCTGAGCTGTGGTGTTCTCTACGGGCACTATGTTTGGGTGCACGTCAATATCACACCTTCCAGGTCAGACACCTCTCTGTGTCCTGGGGGGTGCCTGGCATATGGTAGAGGCTCAGTAACCCAAAACAGACTGGCAGAGGCATGGAATGCAGGCTCCCAAGTGAGATGTGCTAGAGTTGGAAATCCAACTCTACCACTTAGGAGCTGTGTGACTTTGAGCAAATTAGTTAACCTCTCTGGACTTCGGCTCTCTCATCTGTCAAAGAACAGCACCTACTTCATAGTAAGGTAATCCATGAAAAGCACAGGGCTTAGAACAGAACAGTATCAGCTACTACTAATAATAGCAATAGTAGCAGTAATAATAATGGGTACTTTTGAAAGCAATAGTGCCTGTGTGACCCTGGGCAAGCCATCTCACTTCTCTGGTGAAAGTCAGTCACCTGGAGAGGATATTCTCCCAGCTTCCTCCACCCTCCTTCCCCCATTCTCTTGTACAGAGCAAGAAGGGCTGCCTGGAGGAGGCAGGCTGGCCCACAGGCAGGGCTACCTTGGAGCGGTACCACTCTTCGGCTTCATGCATGTTGCTGGACGCCATTGCCTCATACTGCGTGCGGATCTCTTTCAGGGCTGCGGTGAGGTCTGGCTTGGCCACGTCAAGCTCCACATGGACCTGCTGTCGGGCCAGCTGCTCCTGG
GGCTGTTAAACATGTGGCACATATTAGTGCTCAATACACATAGGTCCCTTTCCTGTCCCCTTTCCTCTTTCCTACTTCTCTCTGCCATTTATCTGTGCTTTAGTGACCTGTGACTATCTAGGATTTGGCAGTATTACCTCTACTAGTCAGCCTGGTTAGCCTTTCTGATGCTGAATTAAGTCCTGAGACATGCATATCTAGTGGTCCTAAATATTCTAGTCCAGAAGAAGAGGAATTTTGTTCCTTAGCTAAGAATCATTTCAGGGCCAATGCAAGTAAAAAGTAATTTAGCTCCCCCCTCCCCCCGCCCCGCCCGAGAGAGAAAAATATAACACGTCACATTCACTAATATTTAACATTAAGAGCAGGGAACATAAAACTTTATTCACTGCAAGAGCTGCGGTCCTGAGGGAAGAATCCTCTGAACTGAGTCAGCACTGAGCTGAGCGATGGAGCCTCAGGGATGAAAGAATAAAGCAGAGAGCCTGGCGTCCAGGCACAGCGAGACCCAAGGGGCCCTCCCAGTGACAGGAAGAGGTGAGACAGAGGCTGCTGCTTGCTCAGAGGCCCCAGAGCAGCTCCACTGCGCACCCAAGGACTCACCACCTTTACCACTAACAAGCTCTGCCAGTTTAATGTACAGTTACTCTGTACCACGTCCTGGGCTGGGCACTGCAGTTCCTGGGAAAATGACGCAGTCCAGGCCCTTTAGGGGAAGCCTGGGAAGAGGGAACTCAGGGGGATTGGGAGGATGGGGTGGGTGAGGCTCACTCCCTGTCAAGCTGGGCAAAGCGCCGTGTCTGAGAGGCAGGCAGCTAACCGCGAGCCGGCGGCGTTCCATTTACAATCTGGTGAGCCTGTATTGGTATAACTCGTATTGTGAGGCTTTTGAGATATCTTGTGACCTTGTGATTTTCCCCGTCTTTGGTGCTTTTGCCCCCTGTAGTGACAAGCAGTTAAAAAAACAAAAACAGAAAACACTCAGAAGGGCAGTGCTTGCTCAGGGATCTGCAGACAGGGCAGATGTCAAGCTCTCACCCAGTTCTGCTGTCGAATGGGGTGCAGGGAGGGGAAGAGGGACCAGGGCCTAGCAGGACAGGGGCAGCTGCAAGCCCCACCTAGAAGTACCCTGGTATGATAGGCTCTGGCTAGGAGCGCTGCAGTGTCACGAAGGCCCCCAGGGAGAGCTGGATCCCTTTGCCCTGATCCTCAGTCCCAGTCTGGAGCAACCTACAGGCCCTGGAGGAGGGGGCAGGACTCCAGTGCCCTTCCCACGAGGCCCTGCTGTACTGACCTCGAATCTGCAGGTTGGAGAAGGTCTGCACGGGAATGGTGATCCTGAAAGAAAGCAGAGGGAGAGGGCTGCCCGGGCTGCCTGGGACACCCCTAGGCTGGGTCTTGGTGCGGGGCCATCATGACAACTTGAACGCCCTTTTCCTTGCCAGGAAAGTCTAACTCCATCTCCTAGCTTTTTCCCCAGCAGCCAACGTGCTATCTGGAGTTCCAAACGTCTGCAAGGGGCTTGAGTGTTATCTGGGAGGGGCGCATGTCTATCTGAAGGAAGATGGAAAAGGGAGGGGAAAGTGGTGAAGAAAGTTCCAAGGAGGCAGAAGAGATGGGTGAGGTGAGGAGTCCAATCTTGGCTGGGAAGATGGGGAGTATGCCTCTTAGTTTGGAGGGTGACCCAAGTCCTTGGCCTTGAGGCCTAATCAATATTGGTTGAATCCATCCATCCATTCAGTCATCAAACATCTAGTGACTGCCTGCTATGTGTGAGGCAGGCACTGTGCTGGGCATTGAGGTGGGAAGGGATCTGCACACAAGGCTGAAAAAGACTCAGTCCCTGAAGGGAGCAAGATGAGCTCTACCGTGAGGCAGCAGGGAGACTTCCCCAGGGGCTGTGATGAGGGCTCACCGGTTCTCCTCGCCCTCTAGCAGCTTCCTGTAGGTGGCGATCTCGATGTCCAGGGCCAGCTTGACATTGAGCAGGTCCTGGTACTCCTGCAAGTGGCGGGCCATCTCGTCCTTGAGGCTCTGCCCCTCTTCCTTCAGCCGCGCCAGCGCCTCCTGATAACTGGCCGCCTCCCGCACGTGCCGCTCCTCCTGCTCGCGCATCTGCCTCTCCAGGGACTCGTTCTGTGGGATGGAGCCGGCCGGTCCCGCGGAGCCCCGACCCGACTTGGGGAGGTTTCGAGGCCCGGCCCCCGGCCCCAGGCCCCGCCTCTAGCCCGGGGGTAACGTTCAGGCCCCGCCCTCGACCCAGGTCCTCGTCCCTGGCCCTTCTCCCCTGGCATCTCCTGGGGTGGCCGTCCCTGCTCCGCCCGTCCCCGTCCTGCCCTGGCCGCGCTCACCGTGCCGCGCAGAGACTCCAGGTCGCAGGTCAAGGACTGCAACTGGCGCCGGTAGTCGTTGGCTTCGTGCTTGGCCTGGCGGAGCAGCTCCGCGTTGCGGGCAGCAGCGTCTGTCAGGTCTGCAAACTAGGTGGGGGACACATATGGGGGGCTGTGTGGGCCCATGGGCAGGCACGGGCTCTGGGAAATCAGGGAGGTGAGCAGCACCCCAGTTAACCCCAGGACGTTGGCCCTGGCTGGGACTTTTCCCAACAACTGTGACCCATGGATGCGGGCAGGGTAGCGGGCTGCCAGACCTCAGCACCTAGCACAACACCTGGTCAGCAAGCGAATGAATGAACAGTGCCACAGAATCCAGAACCTTCCACACTGACAGCTGCATCTGCGGGACTGAACGCTGTCGTCTTAGGCGAGCGGAGGCCTGGGTGTTTTGTGTGTTTTTGTTTTTTTGTTTTTTTTGTTTTATTTTGAGACAGAGTCTTGCTCTTGTCGCCCAGGTTGGAAGTCAGTGGCACAATCCCGGGTCACTGCAACCTCTGCCTCCCAGGTTCAAGCAATTCTCCTGCCCCAGCCACCTGAGTAGCTGGGATTACAGGCATGCGCCACTACACCCGGCTGATTTTGTATTTTTAGTAGAGACGGGGTTTCACCATGTTGACCAGGCTAGTCTTGAACTGCTGACCTCAGGTGATCCGCATGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACCTCGCCTGGCCTCACCCTGGGTTCTAATAGCCCTTTCTCCCCTGCCTGCAGGGAGGTCCTCCCAGCCCCATCGGGCCCTCACCCTGCTCAGACACCAGTGGCTTCTGCCACTCACACTCCTCAGCTAGGTGCCCTGGCTAGGCTAGCATCTTGGGGCCCTGCCTCTCTGTGCTTTTCTGCCTCCAGGCTCTGTCCTCCACTAGGAATGGCCCTCCCTTCTTCTCTTCCTGTCCACAGCGTGCCTGTCCTGCCTAGCCCAAATGCCCCCTCTACAGTGTCTTTCCTGGCTCCCACACTACATATAAGCTCTGAGCTGTGGTGTTCTCTACGGGCACTATGTTTGGGTGCACGTCAATATCACACCTTCCAGGTCAGACACCTCTCTGTGTCCTGGGGGGTGCCTGGCATATGGTAGAGGCTCAGTAACCCAAAACAGACTGGCAGAGGCATGGAATGCAGGCTCCCAAGTGAGATGTGCTAGAGTTGGAAATCCAACTCTACCACTTAGGAGCTGTGTGACTTTGAGCAAATTAGTTAACCTCTCTGGACTTCGGCTCTCTCATCTGTCAAAGAACAGCACCTACTTCATAGTAAGGTAATCCATGAAAAGCACAGGGCTTAGAACAGAACAGTATCAGCTACTACTAATAATAGCAATAGTAGCAGTAATAATAATGGGTACTTTTGAAAGCAATAGTGCCTGTGTGACCCTGGGCAAGCCATCTCACTTCTCTGGTGAAAGTCAGTCACCTGGAGAGGATATTCTCCCAGCTTCCTCCACCCTCCTTCCCCCATTCTCTTGTACAGAGCAAGAAGGGCTGCCTGGAGGAGGCAGGCTGGCCCACAGGCAGGGCTACCTTGGAGCGGTACCACTCTTCGGCTTCATGCATGTTGCTGGACGCCATTGCCTCATACTGCGTGCGGATCTCTTTCAGGGCTGCGGTGAGGTCTGGCTTGGCCACGTCAAGCTCCACATGGACCTGCTGTCGGGCCAGCTGCTCCTGG
Task1_train_24765
The variant affects gene GFAP (glial fibrillary acidic protein), which is on Chromosome 17. Please evaluate whether this mutation is benign or pathogenic and specify the disease if necessary.
Pathogenic; Alexander disease
TATTCACTGCAAGAGCTGCGGTCCTGAGGGAAGAATCCTCTGAACTGAGTCAGCACTGAGCTGAGCGATGGAGCCTCAGGGATGAAAGAATAAAGCAGAGAGCCTGGCGTCCAGGCACAGCGAGACCCAAGGGGCCCTCCCAGTGACAGGAAGAGGTGAGACAGAGGCTGCTGCTTGCTCAGAGGCCCCAGAGCAGCTCCACTGCGCACCCAAGGACTCACCACCTTTACCACTAACAAGCTCTGCCAGTTTAATGTACAGTTACTCTGTACCACGTCCTGGGCTGGGCACTGCAGTTCCTGGGAAAATGACGCAGTCCAGGCCCTTTAGGGGAAGCCTGGGAAGAGGGAACTCAGGGGGATTGGGAGGATGGGGTGGGTGAGGCTCACTCCCTGTCAAGCTGGGCAAAGCGCCGTGTCTGAGAGGCAGGCAGCTAACCGCGAGCCGGCGGCGTTCCATTTACAATCTGGTGAGCCTGTATTGGTATAACTCGTATTGTGAGGCTTTTGAGATATCTTGTGACCTTGTGATTTTCCCCGTCTTTGGTGCTTTTGCCCCCTGTAGTGACAAGCAGTTAAAAAAACAAAAACAGAAAACACTCAGAAGGGCAGTGCTTGCTCAGGGATCTGCAGACAGGGCAGATGTCAAGCTCTCACCCAGTTCTGCTGTCGAATGGGGTGCAGGGAGGGGAAGAGGGACCAGGGCCTAGCAGGACAGGGGCAGCTGCAAGCCCCACCTAGAAGTACCCTGGTATGATAGGCTCTGGCTAGGAGCGCTGCAGTGTCACGAAGGCCCCCAGGGAGAGCTGGATCCCTTTGCCCTGATCCTCAGTCCCAGTCTGGAGCAACCTACAGGCCCTGGAGGAGGGGGCAGGACTCCAGTGCCCTTCCCACGAGGCCCTGCTGTACTGACCTCGAATCTGCAGGTTGGAGAAGGTCTGCACGGGAATGGTGATCCTGAAAGAAAGCAGAGGGAGAGGGCTGCCCGGGCTGCCTGGGACACCCCTAGGCTGGGTCTTGGTGCGGGGCCATCATGACAACTTGAACGCCCTTTTCCTTGCCAGGAAAGTCTAACTCCATCTCCTAGCTTTTTCCCCAGCAGCCAACGTGCTATCTGGAGTTCCAAACGTCTGCAAGGGGCTTGAGTGTTATCTGGGAGGGGCGCATGTCTATCTGAAGGAAGATGGAAAAGGGAGGGGAAAGTGGTGAAGAAAGTTCCAAGGAGGCAGAAGAGATGGGTGAGGTGAGGAGTCCAATCTTGGCTGGGAAGATGGGGAGTATGCCTCTTAGTTTGGAGGGTGACCCAAGTCCTTGGCCTTGAGGCCTAATCAATATTGGTTGAATCCATCCATCCATTCAGTCATCAAACATCTAGTGACTGCCTGCTATGTGTGAGGCAGGCACTGTGCTGGGCATTGAGGTGGGAAGGGATCTGCACACAAGGCTGAAAAAGACTCAGTCCCTGAAGGGAGCAAGATGAGCTCTACCGTGAGGCAGCAGGGAGACTTCCCCAGGGGCTGTGATGAGGGCTCACCGGTTCTCCTCGCCCTCTAGCAGCTTCCTGTAGGTGGCGATCTCGATGTCCAGGGCCAGCTTGACATTGAGCAGGTCCTGGTACTCCTGCAAGTGGCGGGCCATCTCGTCCTTGAGGCTCTGCCCCTCTTCCTCCAGCCGCGCCAGCGCCTCCTGATAACTGGCCGCCTCCCGCACGTGCCGCTCCTCCTGCTCGCGCATCTGCCTCTCCAGGGACTCGTTCTGTGGGATGGAGCCGGCCGGTCCCGCGGAGCCCCGACCCGACTTGGGGAGGTTTCGAGGCCCGGCCCCCGGCCCCAGGCCCCGCCTCTAGCCCGGGGGTAACGTTCAGGCCCCGCCCTCGACCCAGGTCCTCGTCCCTGGCCCTTCTCCCCTGGCATCTCCTGGGGTGGCCGTCCCTGCTCCGCCCGTCCCCGTCCTGCCCTGGCCGCGCTCACCGTGCCGCGCAGAGACTCCAGGTCGCAGGTCAAGGACTGCAACTGGCGCCGGTAGTCGTTGGCTTCGTGCTTGGCCTGGCGGAGCAGCTCCGCGTTGCGGGCAGCAGCGTCTGTCAGGTCTGCAAACTAGGTGGGGGACACATATGGGGGGCTGTGTGGGCCCATGGGCAGGCACGGGCTCTGGGAAATCAGGGAGGTGAGCAGCACCCCAGTTAACCCCAGGACGTTGGCCCTGGCTGGGACTTTTCCCAACAACTGTGACCCATGGATGCGGGCAGGGTAGCGGGCTGCCAGACCTCAGCACCTAGCACAACACCTGGTCAGCAAGCGAATGAATGAACAGTGCCACAGAATCCAGAACCTTCCACACTGACAGCTGCATCTGCGGGACTGAACGCTGTCGTCTTAGGCGAGCGGAGGCCTGGGTGTTTTGTGTGTTTTTGTTTTTTTGTTTTTTTTGTTTTATTTTGAGACAGAGTCTTGCTCTTGTCGCCCAGGTTGGAAGTCAGTGGCACAATCCCGGGTCACTGCAACCTCTGCCTCCCAGGTTCAAGCAATTCTCCTGCCCCAGCCACCTGAGTAGCTGGGATTACAGGCATGCGCCACTACACCCGGCTGATTTTGTATTTTTAGTAGAGACGGGGTTTCACCATGTTGACCAGGCTAGTCTTGAACTGCTGACCTCAGGTGATCCGCATGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACCTCGCCTGGCCTCACCCTGGGTTCTAATAGCCCTTTCTCCCCTGCCTGCAGGGAGGTCCTCCCAGCCCCATCGGGCCCTCACCCTGCTCAGACACCAGTGGCTTCTGCCACTCACACTCCTCAGCTAGGTGCCCTGGCTAGGCTAGCATCTTGGGGCCCTGCCTCTCTGTGCTTTTCTGCCTCCAGGCTCTGTCCTCCACTAGGAATGGCCCTCCCTTCTTCTCTTCCTGTCCACAGCGTGCCTGTCCTGCCTAGCCCAAATGCCCCCTCTACAGTGTCTTTCCTGGCTCCCACACTACATATAAGCTCTGAGCTGTGGTGTTCTCTACGGGCACTATGTTTGGGTGCACGTCAATATCACACCTTCCAGGTCAGACACCTCTCTGTGTCCTGGGGGGTGCCTGGCATATGGTAGAGGCTCAGTAACCCAAAACAGACTGGCAGAGGCATGGAATGCAGGCTCCCAAGTGAGATGTGCTAGAGTTGGAAATCCAACTCTACCACTTAGGAGCTGTGTGACTTTGAGCAAATTAGTTAACCTCTCTGGACTTCGGCTCTCTCATCTGTCAAAGAACAGCACCTACTTCATAGTAAGGTAATCCATGAAAAGCACAGGGCTTAGAACAGAACAGTATCAGCTACTACTAATAATAGCAATAGTAGCAGTAATAATAATGGGTACTTTTGAAAGCAATAGTGCCTGTGTGACCCTGGGCAAGCCATCTCACTTCTCTGGTGAAAGTCAGTCACCTGGAGAGGATATTCTCCCAGCTTCCTCCACCCTCCTTCCCCCATTCTCTTGTACAGAGCAAGAAGGGCTGCCTGGAGGAGGCAGGCTGGCCCACAGGCAGGGCTACCTTGGAGCGGTACCACTCTTCGGCTTCATGCATGTTGCTGGACGCCATTGCCTCATACTGCGTGCGGATCTCTTTCAGGGCTGCGGTGAGGTCTGGCTTGGCCACGTCAAGCTCCACATGGACCTGCTGTCGGGCCAGCTGCTCCTGGAGTTCCCGAACCTCCTGACCAGGGTGAGAGAAGCGGTACCAGGGCTCAGGGTACAGGCCACAGCTGGGGTTCCCCACGCCATTGTGTCCTCTTCTGCCTGCCCCTCGGCCAGGAGTTCGAATGCTCTCTTGTCTCTTTCCGTCTCCCTTAGTGTCTTTCTGTTTGTCTTTCATTTCCTGTCTCTACCTGCCAATCTCTGTTTCTCTCCTCTCTCTGAGTGTCTCTCTCAGTCTCAGCTTCTCTGTCTCTGTCTCTCCCTCTCTCAGTTGCAATCTCTGTGTTGAGCTTTCCTCCCTCTGCCCTGGCCTCACCTCCTCGTGGATCTTCCTCAAGAACCGGATCTCCTCCTCCAGCGACTCAATCTTCCTCTCCAGATCCAGAC
TATTCACTGCAAGAGCTGCGGTCCTGAGGGAAGAATCCTCTGAACTGAGTCAGCACTGAGCTGAGCGATGGAGCCTCAGGGATGAAAGAATAAAGCAGAGAGCCTGGCGTCCAGGCACAGCGAGACCCAAGGGGCCCTCCCAGTGACAGGAAGAGGTGAGACAGAGGCTGCTGCTTGCTCAGAGGCCCCAGAGCAGCTCCACTGCGCACCCAAGGACTCACCACCTTTACCACTAACAAGCTCTGCCAGTTTAATGTACAGTTACTCTGTACCACGTCCTGGGCTGGGCACTGCAGTTCCTGGGAAAATGACGCAGTCCAGGCCCTTTAGGGGAAGCCTGGGAAGAGGGAACTCAGGGGGATTGGGAGGATGGGGTGGGTGAGGCTCACTCCCTGTCAAGCTGGGCAAAGCGCCGTGTCTGAGAGGCAGGCAGCTAACCGCGAGCCGGCGGCGTTCCATTTACAATCTGGTGAGCCTGTATTGGTATAACTCGTATTGTGAGGCTTTTGAGATATCTTGTGACCTTGTGATTTTCCCCGTCTTTGGTGCTTTTGCCCCCTGTAGTGACAAGCAGTTAAAAAAACAAAAACAGAAAACACTCAGAAGGGCAGTGCTTGCTCAGGGATCTGCAGACAGGGCAGATGTCAAGCTCTCACCCAGTTCTGCTGTCGAATGGGGTGCAGGGAGGGGAAGAGGGACCAGGGCCTAGCAGGACAGGGGCAGCTGCAAGCCCCACCTAGAAGTACCCTGGTATGATAGGCTCTGGCTAGGAGCGCTGCAGTGTCACGAAGGCCCCCAGGGAGAGCTGGATCCCTTTGCCCTGATCCTCAGTCCCAGTCTGGAGCAACCTACAGGCCCTGGAGGAGGGGGCAGGACTCCAGTGCCCTTCCCACGAGGCCCTGCTGTACTGACCTCGAATCTGCAGGTTGGAGAAGGTCTGCACGGGAATGGTGATCCTGAAAGAAAGCAGAGGGAGAGGGCTGCCCGGGCTGCCTGGGACACCCCTAGGCTGGGTCTTGGTGCGGGGCCATCATGACAACTTGAACGCCCTTTTCCTTGCCAGGAAAGTCTAACTCCATCTCCTAGCTTTTTCCCCAGCAGCCAACGTGCTATCTGGAGTTCCAAACGTCTGCAAGGGGCTTGAGTGTTATCTGGGAGGGGCGCATGTCTATCTGAAGGAAGATGGAAAAGGGAGGGGAAAGTGGTGAAGAAAGTTCCAAGGAGGCAGAAGAGATGGGTGAGGTGAGGAGTCCAATCTTGGCTGGGAAGATGGGGAGTATGCCTCTTAGTTTGGAGGGTGACCCAAGTCCTTGGCCTTGAGGCCTAATCAATATTGGTTGAATCCATCCATCCATTCAGTCATCAAACATCTAGTGACTGCCTGCTATGTGTGAGGCAGGCACTGTGCTGGGCATTGAGGTGGGAAGGGATCTGCACACAAGGCTGAAAAAGACTCAGTCCCTGAAGGGAGCAAGATGAGCTCTACCGTGAGGCAGCAGGGAGACTTCCCCAGGGGCTGTGATGAGGGCTCACCGGTTCTCCTCGCCCTCTAGCAGCTTCCTGTAGGTGGCGATCTCGATGTCCAGGGCCAGCTTGACATTGAGCAGGTCCTGGTACTCCTGCAAGTGGCGGGCCATCTCGTCCTTGAGGCTCTGCCCCTCTTCCTCCAGCCGCGCCAGCGCCTCCTGATAACTGGCCGCCTCCCGCACGTGCCGCTCCTCCTGCTCGCGCATCTGCCTCTCCAGGGACTCGTTCTGTGGGATGGAGCCGGCCGGTCCCGCGGAGCCCCGACCCGACTTGGGGAGGTTTCGAGGCCCGGCCCCCGGCCCCAGGCCCCGCCTCTAGCCCGGGGGTAACGTTCAGGCCCCGCCCTCGACCCAGGTCCTCGTCCCTGGCCCTTCTCCCCTGGCATCTCCTGGGGTGGCCGTCCCTGCTCCGCCCGTCCCCGTCCTGCCCTGGCCGCGCTCACCGTGCCGCGCAGAGACTCCAGGTCGCAGGTCAAGGACTGCAACTGGCGCCGGTAGTCGTTGGCTTCGTGCTTGGCCTGGAGGAGCAGCTCCGCGTTGCGGGCAGCAGCGTCTGTCAGGTCTGCAAACTAGGTGGGGGACACATATGGGGGGCTGTGTGGGCCCATGGGCAGGCACGGGCTCTGGGAAATCAGGGAGGTGAGCAGCACCCCAGTTAACCCCAGGACGTTGGCCCTGGCTGGGACTTTTCCCAACAACTGTGACCCATGGATGCGGGCAGGGTAGCGGGCTGCCAGACCTCAGCACCTAGCACAACACCTGGTCAGCAAGCGAATGAATGAACAGTGCCACAGAATCCAGAACCTTCCACACTGACAGCTGCATCTGCGGGACTGAACGCTGTCGTCTTAGGCGAGCGGAGGCCTGGGTGTTTTGTGTGTTTTTGTTTTTTTGTTTTTTTTGTTTTATTTTGAGACAGAGTCTTGCTCTTGTCGCCCAGGTTGGAAGTCAGTGGCACAATCCCGGGTCACTGCAACCTCTGCCTCCCAGGTTCAAGCAATTCTCCTGCCCCAGCCACCTGAGTAGCTGGGATTACAGGCATGCGCCACTACACCCGGCTGATTTTGTATTTTTAGTAGAGACGGGGTTTCACCATGTTGACCAGGCTAGTCTTGAACTGCTGACCTCAGGTGATCCGCATGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACCTCGCCTGGCCTCACCCTGGGTTCTAATAGCCCTTTCTCCCCTGCCTGCAGGGAGGTCCTCCCAGCCCCATCGGGCCCTCACCCTGCTCAGACACCAGTGGCTTCTGCCACTCACACTCCTCAGCTAGGTGCCCTGGCTAGGCTAGCATCTTGGGGCCCTGCCTCTCTGTGCTTTTCTGCCTCCAGGCTCTGTCCTCCACTAGGAATGGCCCTCCCTTCTTCTCTTCCTGTCCACAGCGTGCCTGTCCTGCCTAGCCCAAATGCCCCCTCTACAGTGTCTTTCCTGGCTCCCACACTACATATAAGCTCTGAGCTGTGGTGTTCTCTACGGGCACTATGTTTGGGTGCACGTCAATATCACACCTTCCAGGTCAGACACCTCTCTGTGTCCTGGGGGGTGCCTGGCATATGGTAGAGGCTCAGTAACCCAAAACAGACTGGCAGAGGCATGGAATGCAGGCTCCCAAGTGAGATGTGCTAGAGTTGGAAATCCAACTCTACCACTTAGGAGCTGTGTGACTTTGAGCAAATTAGTTAACCTCTCTGGACTTCGGCTCTCTCATCTGTCAAAGAACAGCACCTACTTCATAGTAAGGTAATCCATGAAAAGCACAGGGCTTAGAACAGAACAGTATCAGCTACTACTAATAATAGCAATAGTAGCAGTAATAATAATGGGTACTTTTGAAAGCAATAGTGCCTGTGTGACCCTGGGCAAGCCATCTCACTTCTCTGGTGAAAGTCAGTCACCTGGAGAGGATATTCTCCCAGCTTCCTCCACCCTCCTTCCCCCATTCTCTTGTACAGAGCAAGAAGGGCTGCCTGGAGGAGGCAGGCTGGCCCACAGGCAGGGCTACCTTGGAGCGGTACCACTCTTCGGCTTCATGCATGTTGCTGGACGCCATTGCCTCATACTGCGTGCGGATCTCTTTCAGGGCTGCGGTGAGGTCTGGCTTGGCCACGTCAAGCTCCACATGGACCTGCTGTCGGGCCAGCTGCTCCTGGAGTTCCCGAACCTCCTGACCAGGGTGAGAGAAGCGGTACCAGGGCTCAGGGTACAGGCCACAGCTGGGGTTCCCCACGCCATTGTGTCCTCTTCTGCCTGCCCCTCGGCCAGGAGTTCGAATGCTCTCTTGTCTCTTTCCGTCTCCCTTAGTGTCTTTCTGTTTGTCTTTCATTTCCTGTCTCTACCTGCCAATCTCTGTTTCTCTCCTCTCTCTGAGTGTCTCTCTCAGTCTCAGCTTCTCTGTCTCTGTCTCTCCCTCTCTCAGTTGCAATCTCTGTGTTGAGCTTTCCTCCCTCTGCCCTGGCCTCACCTCCTCGTGGATCTTCCTCAAGAACCGGATCTCCTCCTCCAGCGACTCAATCTTCCTCTCCAGATCCAGAC
Task1_train_24766
A variant has been detected on Chromosome 17 in GFAP (glial fibrillary acidic protein). What is its effect — pathogenic or benign? If pathogenic, name the disease.
Pathogenic; Alexander disease
TGAGGGAAGAATCCTCTGAACTGAGTCAGCACTGAGCTGAGCGATGGAGCCTCAGGGATGAAAGAATAAAGCAGAGAGCCTGGCGTCCAGGCACAGCGAGACCCAAGGGGCCCTCCCAGTGACAGGAAGAGGTGAGACAGAGGCTGCTGCTTGCTCAGAGGCCCCAGAGCAGCTCCACTGCGCACCCAAGGACTCACCACCTTTACCACTAACAAGCTCTGCCAGTTTAATGTACAGTTACTCTGTACCACGTCCTGGGCTGGGCACTGCAGTTCCTGGGAAAATGACGCAGTCCAGGCCCTTTAGGGGAAGCCTGGGAAGAGGGAACTCAGGGGGATTGGGAGGATGGGGTGGGTGAGGCTCACTCCCTGTCAAGCTGGGCAAAGCGCCGTGTCTGAGAGGCAGGCAGCTAACCGCGAGCCGGCGGCGTTCCATTTACAATCTGGTGAGCCTGTATTGGTATAACTCGTATTGTGAGGCTTTTGAGATATCTTGTGACCTTGTGATTTTCCCCGTCTTTGGTGCTTTTGCCCCCTGTAGTGACAAGCAGTTAAAAAAACAAAAACAGAAAACACTCAGAAGGGCAGTGCTTGCTCAGGGATCTGCAGACAGGGCAGATGTCAAGCTCTCACCCAGTTCTGCTGTCGAATGGGGTGCAGGGAGGGGAAGAGGGACCAGGGCCTAGCAGGACAGGGGCAGCTGCAAGCCCCACCTAGAAGTACCCTGGTATGATAGGCTCTGGCTAGGAGCGCTGCAGTGTCACGAAGGCCCCCAGGGAGAGCTGGATCCCTTTGCCCTGATCCTCAGTCCCAGTCTGGAGCAACCTACAGGCCCTGGAGGAGGGGGCAGGACTCCAGTGCCCTTCCCACGAGGCCCTGCTGTACTGACCTCGAATCTGCAGGTTGGAGAAGGTCTGCACGGGAATGGTGATCCTGAAAGAAAGCAGAGGGAGAGGGCTGCCCGGGCTGCCTGGGACACCCCTAGGCTGGGTCTTGGTGCGGGGCCATCATGACAACTTGAACGCCCTTTTCCTTGCCAGGAAAGTCTAACTCCATCTCCTAGCTTTTTCCCCAGCAGCCAACGTGCTATCTGGAGTTCCAAACGTCTGCAAGGGGCTTGAGTGTTATCTGGGAGGGGCGCATGTCTATCTGAAGGAAGATGGAAAAGGGAGGGGAAAGTGGTGAAGAAAGTTCCAAGGAGGCAGAAGAGATGGGTGAGGTGAGGAGTCCAATCTTGGCTGGGAAGATGGGGAGTATGCCTCTTAGTTTGGAGGGTGACCCAAGTCCTTGGCCTTGAGGCCTAATCAATATTGGTTGAATCCATCCATCCATTCAGTCATCAAACATCTAGTGACTGCCTGCTATGTGTGAGGCAGGCACTGTGCTGGGCATTGAGGTGGGAAGGGATCTGCACACAAGGCTGAAAAAGACTCAGTCCCTGAAGGGAGCAAGATGAGCTCTACCGTGAGGCAGCAGGGAGACTTCCCCAGGGGCTGTGATGAGGGCTCACCGGTTCTCCTCGCCCTCTAGCAGCTTCCTGTAGGTGGCGATCTCGATGTCCAGGGCCAGCTTGACATTGAGCAGGTCCTGGTACTCCTGCAAGTGGCGGGCCATCTCGTCCTTGAGGCTCTGCCCCTCTTCCTCCAGCCGCGCCAGCGCCTCCTGATAACTGGCCGCCTCCCGCACGTGCCGCTCCTCCTGCTCGCGCATCTGCCTCTCCAGGGACTCGTTCTGTGGGATGGAGCCGGCCGGTCCCGCGGAGCCCCGACCCGACTTGGGGAGGTTTCGAGGCCCGGCCCCCGGCCCCAGGCCCCGCCTCTAGCCCGGGGGTAACGTTCAGGCCCCGCCCTCGACCCAGGTCCTCGTCCCTGGCCCTTCTCCCCTGGCATCTCCTGGGGTGGCCGTCCCTGCTCCGCCCGTCCCCGTCCTGCCCTGGCCGCGCTCACCGTGCCGCGCAGAGACTCCAGGTCGCAGGTCAAGGACTGCAACTGGCGCCGGTAGTCGTTGGCTTCGTGCTTGGCCTGGCGGAGCAGCTCCGCGTTGCGGGCAGCAGCGTCTGTCAGGTCTGCAAACTAGGTGGGGGACACATATGGGGGGCTGTGTGGGCCCATGGGCAGGCACGGGCTCTGGGAAATCAGGGAGGTGAGCAGCACCCCAGTTAACCCCAGGACGTTGGCCCTGGCTGGGACTTTTCCCAACAACTGTGACCCATGGATGCGGGCAGGGTAGCGGGCTGCCAGACCTCAGCACCTAGCACAACACCTGGTCAGCAAGCGAATGAATGAACAGTGCCACAGAATCCAGAACCTTCCACACTGACAGCTGCATCTGCGGGACTGAACGCTGTCGTCTTAGGCGAGCGGAGGCCTGGGTGTTTTGTGTGTTTTTGTTTTTTTGTTTTTTTTGTTTTATTTTGAGACAGAGTCTTGCTCTTGTCGCCCAGGTTGGAAGTCAGTGGCACAATCCCGGGTCACTGCAACCTCTGCCTCCCAGGTTCAAGCAATTCTCCTGCCCCAGCCACCTGAGTAGCTGGGATTACAGGCATGCGCCACTACACCCGGCTGATTTTGTATTTTTAGTAGAGACGGGGTTTCACCATGTTGACCAGGCTAGTCTTGAACTGCTGACCTCAGGTGATCCGCATGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACCTCGCCTGGCCTCACCCTGGGTTCTAATAGCCCTTTCTCCCCTGCCTGCAGGGAGGTCCTCCCAGCCCCATCGGGCCCTCACCCTGCTCAGACACCAGTGGCTTCTGCCACTCACACTCCTCAGCTAGGTGCCCTGGCTAGGCTAGCATCTTGGGGCCCTGCCTCTCTGTGCTTTTCTGCCTCCAGGCTCTGTCCTCCACTAGGAATGGCCCTCCCTTCTTCTCTTCCTGTCCACAGCGTGCCTGTCCTGCCTAGCCCAAATGCCCCCTCTACAGTGTCTTTCCTGGCTCCCACACTACATATAAGCTCTGAGCTGTGGTGTTCTCTACGGGCACTATGTTTGGGTGCACGTCAATATCACACCTTCCAGGTCAGACACCTCTCTGTGTCCTGGGGGGTGCCTGGCATATGGTAGAGGCTCAGTAACCCAAAACAGACTGGCAGAGGCATGGAATGCAGGCTCCCAAGTGAGATGTGCTAGAGTTGGAAATCCAACTCTACCACTTAGGAGCTGTGTGACTTTGAGCAAATTAGTTAACCTCTCTGGACTTCGGCTCTCTCATCTGTCAAAGAACAGCACCTACTTCATAGTAAGGTAATCCATGAAAAGCACAGGGCTTAGAACAGAACAGTATCAGCTACTACTAATAATAGCAATAGTAGCAGTAATAATAATGGGTACTTTTGAAAGCAATAGTGCCTGTGTGACCCTGGGCAAGCCATCTCACTTCTCTGGTGAAAGTCAGTCACCTGGAGAGGATATTCTCCCAGCTTCCTCCACCCTCCTTCCCCCATTCTCTTGTACAGAGCAAGAAGGGCTGCCTGGAGGAGGCAGGCTGGCCCACAGGCAGGGCTACCTTGGAGCGGTACCACTCTTCGGCTTCATGCATGTTGCTGGACGCCATTGCCTCATACTGCGTGCGGATCTCTTTCAGGGCTGCGGTGAGGTCTGGCTTGGCCACGTCAAGCTCCACATGGACCTGCTGTCGGGCCAGCTGCTCCTGGAGTTCCCGAACCTCCTGACCAGGGTGAGAGAAGCGGTACCAGGGCTCAGGGTACAGGCCACAGCTGGGGTTCCCCACGCCATTGTGTCCTCTTCTGCCTGCCCCTCGGCCAGGAGTTCGAATGCTCTCTTGTCTCTTTCCGTCTCCCTTAGTGTCTTTCTGTTTGTCTTTCATTTCCTGTCTCTACCTGCCAATCTCTGTTTCTCTCCTCTCTCTGAGTGTCTCTCTCAGTCTCAGCTTCTCTGTCTCTGTCTCTCCCTCTCTCAGTTGCAATCTCTGTGTTGAGCTTTCCTCCCTCTGCCCTGGCCTCACCTCCTCGTGGATCTTCCTCAAGAACCGGATCTCCTCCTCCAGCGACTCAATCTTCCTCTCCAGATCCAGACGGGCCAGGGTGGCTTCATCTGCTT
TGAGGGAAGAATCCTCTGAACTGAGTCAGCACTGAGCTGAGCGATGGAGCCTCAGGGATGAAAGAATAAAGCAGAGAGCCTGGCGTCCAGGCACAGCGAGACCCAAGGGGCCCTCCCAGTGACAGGAAGAGGTGAGACAGAGGCTGCTGCTTGCTCAGAGGCCCCAGAGCAGCTCCACTGCGCACCCAAGGACTCACCACCTTTACCACTAACAAGCTCTGCCAGTTTAATGTACAGTTACTCTGTACCACGTCCTGGGCTGGGCACTGCAGTTCCTGGGAAAATGACGCAGTCCAGGCCCTTTAGGGGAAGCCTGGGAAGAGGGAACTCAGGGGGATTGGGAGGATGGGGTGGGTGAGGCTCACTCCCTGTCAAGCTGGGCAAAGCGCCGTGTCTGAGAGGCAGGCAGCTAACCGCGAGCCGGCGGCGTTCCATTTACAATCTGGTGAGCCTGTATTGGTATAACTCGTATTGTGAGGCTTTTGAGATATCTTGTGACCTTGTGATTTTCCCCGTCTTTGGTGCTTTTGCCCCCTGTAGTGACAAGCAGTTAAAAAAACAAAAACAGAAAACACTCAGAAGGGCAGTGCTTGCTCAGGGATCTGCAGACAGGGCAGATGTCAAGCTCTCACCCAGTTCTGCTGTCGAATGGGGTGCAGGGAGGGGAAGAGGGACCAGGGCCTAGCAGGACAGGGGCAGCTGCAAGCCCCACCTAGAAGTACCCTGGTATGATAGGCTCTGGCTAGGAGCGCTGCAGTGTCACGAAGGCCCCCAGGGAGAGCTGGATCCCTTTGCCCTGATCCTCAGTCCCAGTCTGGAGCAACCTACAGGCCCTGGAGGAGGGGGCAGGACTCCAGTGCCCTTCCCACGAGGCCCTGCTGTACTGACCTCGAATCTGCAGGTTGGAGAAGGTCTGCACGGGAATGGTGATCCTGAAAGAAAGCAGAGGGAGAGGGCTGCCCGGGCTGCCTGGGACACCCCTAGGCTGGGTCTTGGTGCGGGGCCATCATGACAACTTGAACGCCCTTTTCCTTGCCAGGAAAGTCTAACTCCATCTCCTAGCTTTTTCCCCAGCAGCCAACGTGCTATCTGGAGTTCCAAACGTCTGCAAGGGGCTTGAGTGTTATCTGGGAGGGGCGCATGTCTATCTGAAGGAAGATGGAAAAGGGAGGGGAAAGTGGTGAAGAAAGTTCCAAGGAGGCAGAAGAGATGGGTGAGGTGAGGAGTCCAATCTTGGCTGGGAAGATGGGGAGTATGCCTCTTAGTTTGGAGGGTGACCCAAGTCCTTGGCCTTGAGGCCTAATCAATATTGGTTGAATCCATCCATCCATTCAGTCATCAAACATCTAGTGACTGCCTGCTATGTGTGAGGCAGGCACTGTGCTGGGCATTGAGGTGGGAAGGGATCTGCACACAAGGCTGAAAAAGACTCAGTCCCTGAAGGGAGCAAGATGAGCTCTACCGTGAGGCAGCAGGGAGACTTCCCCAGGGGCTGTGATGAGGGCTCACCGGTTCTCCTCGCCCTCTAGCAGCTTCCTGTAGGTGGCGATCTCGATGTCCAGGGCCAGCTTGACATTGAGCAGGTCCTGGTACTCCTGCAAGTGGCGGGCCATCTCGTCCTTGAGGCTCTGCCCCTCTTCCTCCAGCCGCGCCAGCGCCTCCTGATAACTGGCCGCCTCCCGCACGTGCCGCTCCTCCTGCTCGCGCATCTGCCTCTCCAGGGACTCGTTCTGTGGGATGGAGCCGGCCGGTCCCGCGGAGCCCCGACCCGACTTGGGGAGGTTTCGAGGCCCGGCCCCCGGCCCCAGGCCCCGCCTCTAGCCCGGGGGTAACGTTCAGGCCCCGCCCTCGACCCAGGTCCTCGTCCCTGGCCCTTCTCCCCTGGCATCTCCTGGGGTGGCCGTCCCTGCTCCGCCCGTCCCCGTCCTGCCCTGGCCGCGCTCACCGTGCCGCGCAGAGACTCCAGGTCGCAGGTCAAGGACTGCAACTGGCGCCGGTAGTCGTTGGCTTCGTGCTTGGCCTGGCGGAGCAGCTCCGCGTTGCGGGCATCAGCGTCTGTCAGGTCTGCAAACTAGGTGGGGGACACATATGGGGGGCTGTGTGGGCCCATGGGCAGGCACGGGCTCTGGGAAATCAGGGAGGTGAGCAGCACCCCAGTTAACCCCAGGACGTTGGCCCTGGCTGGGACTTTTCCCAACAACTGTGACCCATGGATGCGGGCAGGGTAGCGGGCTGCCAGACCTCAGCACCTAGCACAACACCTGGTCAGCAAGCGAATGAATGAACAGTGCCACAGAATCCAGAACCTTCCACACTGACAGCTGCATCTGCGGGACTGAACGCTGTCGTCTTAGGCGAGCGGAGGCCTGGGTGTTTTGTGTGTTTTTGTTTTTTTGTTTTTTTTGTTTTATTTTGAGACAGAGTCTTGCTCTTGTCGCCCAGGTTGGAAGTCAGTGGCACAATCCCGGGTCACTGCAACCTCTGCCTCCCAGGTTCAAGCAATTCTCCTGCCCCAGCCACCTGAGTAGCTGGGATTACAGGCATGCGCCACTACACCCGGCTGATTTTGTATTTTTAGTAGAGACGGGGTTTCACCATGTTGACCAGGCTAGTCTTGAACTGCTGACCTCAGGTGATCCGCATGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACCTCGCCTGGCCTCACCCTGGGTTCTAATAGCCCTTTCTCCCCTGCCTGCAGGGAGGTCCTCCCAGCCCCATCGGGCCCTCACCCTGCTCAGACACCAGTGGCTTCTGCCACTCACACTCCTCAGCTAGGTGCCCTGGCTAGGCTAGCATCTTGGGGCCCTGCCTCTCTGTGCTTTTCTGCCTCCAGGCTCTGTCCTCCACTAGGAATGGCCCTCCCTTCTTCTCTTCCTGTCCACAGCGTGCCTGTCCTGCCTAGCCCAAATGCCCCCTCTACAGTGTCTTTCCTGGCTCCCACACTACATATAAGCTCTGAGCTGTGGTGTTCTCTACGGGCACTATGTTTGGGTGCACGTCAATATCACACCTTCCAGGTCAGACACCTCTCTGTGTCCTGGGGGGTGCCTGGCATATGGTAGAGGCTCAGTAACCCAAAACAGACTGGCAGAGGCATGGAATGCAGGCTCCCAAGTGAGATGTGCTAGAGTTGGAAATCCAACTCTACCACTTAGGAGCTGTGTGACTTTGAGCAAATTAGTTAACCTCTCTGGACTTCGGCTCTCTCATCTGTCAAAGAACAGCACCTACTTCATAGTAAGGTAATCCATGAAAAGCACAGGGCTTAGAACAGAACAGTATCAGCTACTACTAATAATAGCAATAGTAGCAGTAATAATAATGGGTACTTTTGAAAGCAATAGTGCCTGTGTGACCCTGGGCAAGCCATCTCACTTCTCTGGTGAAAGTCAGTCACCTGGAGAGGATATTCTCCCAGCTTCCTCCACCCTCCTTCCCCCATTCTCTTGTACAGAGCAAGAAGGGCTGCCTGGAGGAGGCAGGCTGGCCCACAGGCAGGGCTACCTTGGAGCGGTACCACTCTTCGGCTTCATGCATGTTGCTGGACGCCATTGCCTCATACTGCGTGCGGATCTCTTTCAGGGCTGCGGTGAGGTCTGGCTTGGCCACGTCAAGCTCCACATGGACCTGCTGTCGGGCCAGCTGCTCCTGGAGTTCCCGAACCTCCTGACCAGGGTGAGAGAAGCGGTACCAGGGCTCAGGGTACAGGCCACAGCTGGGGTTCCCCACGCCATTGTGTCCTCTTCTGCCTGCCCCTCGGCCAGGAGTTCGAATGCTCTCTTGTCTCTTTCCGTCTCCCTTAGTGTCTTTCTGTTTGTCTTTCATTTCCTGTCTCTACCTGCCAATCTCTGTTTCTCTCCTCTCTCTGAGTGTCTCTCTCAGTCTCAGCTTCTCTGTCTCTGTCTCTCCCTCTCTCAGTTGCAATCTCTGTGTTGAGCTTTCCTCCCTCTGCCCTGGCCTCACCTCCTCGTGGATCTTCCTCAAGAACCGGATCTCCTCCTCCAGCGACTCAATCTTCCTCTCCAGATCCAGACGGGCCAGGGTGGCTTCATCTGCTT
Task1_train_24767
A genomic change on Chromosome 17 affects GFAP (glial fibrillary acidic protein). Classify this variant as benign or pathogenic, and name the disease if relevant.
Pathogenic; Alexander disease
CCTCTGAACTGAGTCAGCACTGAGCTGAGCGATGGAGCCTCAGGGATGAAAGAATAAAGCAGAGAGCCTGGCGTCCAGGCACAGCGAGACCCAAGGGGCCCTCCCAGTGACAGGAAGAGGTGAGACAGAGGCTGCTGCTTGCTCAGAGGCCCCAGAGCAGCTCCACTGCGCACCCAAGGACTCACCACCTTTACCACTAACAAGCTCTGCCAGTTTAATGTACAGTTACTCTGTACCACGTCCTGGGCTGGGCACTGCAGTTCCTGGGAAAATGACGCAGTCCAGGCCCTTTAGGGGAAGCCTGGGAAGAGGGAACTCAGGGGGATTGGGAGGATGGGGTGGGTGAGGCTCACTCCCTGTCAAGCTGGGCAAAGCGCCGTGTCTGAGAGGCAGGCAGCTAACCGCGAGCCGGCGGCGTTCCATTTACAATCTGGTGAGCCTGTATTGGTATAACTCGTATTGTGAGGCTTTTGAGATATCTTGTGACCTTGTGATTTTCCCCGTCTTTGGTGCTTTTGCCCCCTGTAGTGACAAGCAGTTAAAAAAACAAAAACAGAAAACACTCAGAAGGGCAGTGCTTGCTCAGGGATCTGCAGACAGGGCAGATGTCAAGCTCTCACCCAGTTCTGCTGTCGAATGGGGTGCAGGGAGGGGAAGAGGGACCAGGGCCTAGCAGGACAGGGGCAGCTGCAAGCCCCACCTAGAAGTACCCTGGTATGATAGGCTCTGGCTAGGAGCGCTGCAGTGTCACGAAGGCCCCCAGGGAGAGCTGGATCCCTTTGCCCTGATCCTCAGTCCCAGTCTGGAGCAACCTACAGGCCCTGGAGGAGGGGGCAGGACTCCAGTGCCCTTCCCACGAGGCCCTGCTGTACTGACCTCGAATCTGCAGGTTGGAGAAGGTCTGCACGGGAATGGTGATCCTGAAAGAAAGCAGAGGGAGAGGGCTGCCCGGGCTGCCTGGGACACCCCTAGGCTGGGTCTTGGTGCGGGGCCATCATGACAACTTGAACGCCCTTTTCCTTGCCAGGAAAGTCTAACTCCATCTCCTAGCTTTTTCCCCAGCAGCCAACGTGCTATCTGGAGTTCCAAACGTCTGCAAGGGGCTTGAGTGTTATCTGGGAGGGGCGCATGTCTATCTGAAGGAAGATGGAAAAGGGAGGGGAAAGTGGTGAAGAAAGTTCCAAGGAGGCAGAAGAGATGGGTGAGGTGAGGAGTCCAATCTTGGCTGGGAAGATGGGGAGTATGCCTCTTAGTTTGGAGGGTGACCCAAGTCCTTGGCCTTGAGGCCTAATCAATATTGGTTGAATCCATCCATCCATTCAGTCATCAAACATCTAGTGACTGCCTGCTATGTGTGAGGCAGGCACTGTGCTGGGCATTGAGGTGGGAAGGGATCTGCACACAAGGCTGAAAAAGACTCAGTCCCTGAAGGGAGCAAGATGAGCTCTACCGTGAGGCAGCAGGGAGACTTCCCCAGGGGCTGTGATGAGGGCTCACCGGTTCTCCTCGCCCTCTAGCAGCTTCCTGTAGGTGGCGATCTCGATGTCCAGGGCCAGCTTGACATTGAGCAGGTCCTGGTACTCCTGCAAGTGGCGGGCCATCTCGTCCTTGAGGCTCTGCCCCTCTTCCTCCAGCCGCGCCAGCGCCTCCTGATAACTGGCCGCCTCCCGCACGTGCCGCTCCTCCTGCTCGCGCATCTGCCTCTCCAGGGACTCGTTCTGTGGGATGGAGCCGGCCGGTCCCGCGGAGCCCCGACCCGACTTGGGGAGGTTTCGAGGCCCGGCCCCCGGCCCCAGGCCCCGCCTCTAGCCCGGGGGTAACGTTCAGGCCCCGCCCTCGACCCAGGTCCTCGTCCCTGGCCCTTCTCCCCTGGCATCTCCTGGGGTGGCCGTCCCTGCTCCGCCCGTCCCCGTCCTGCCCTGGCCGCGCTCACCGTGCCGCGCAGAGACTCCAGGTCGCAGGTCAAGGACTGCAACTGGCGCCGGTAGTCGTTGGCTTCGTGCTTGGCCTGGCGGAGCAGCTCCGCGTTGCGGGCAGCAGCGTCTGTCAGGTCTGCAAACTAGGTGGGGGACACATATGGGGGGCTGTGTGGGCCCATGGGCAGGCACGGGCTCTGGGAAATCAGGGAGGTGAGCAGCACCCCAGTTAACCCCAGGACGTTGGCCCTGGCTGGGACTTTTCCCAACAACTGTGACCCATGGATGCGGGCAGGGTAGCGGGCTGCCAGACCTCAGCACCTAGCACAACACCTGGTCAGCAAGCGAATGAATGAACAGTGCCACAGAATCCAGAACCTTCCACACTGACAGCTGCATCTGCGGGACTGAACGCTGTCGTCTTAGGCGAGCGGAGGCCTGGGTGTTTTGTGTGTTTTTGTTTTTTTGTTTTTTTTGTTTTATTTTGAGACAGAGTCTTGCTCTTGTCGCCCAGGTTGGAAGTCAGTGGCACAATCCCGGGTCACTGCAACCTCTGCCTCCCAGGTTCAAGCAATTCTCCTGCCCCAGCCACCTGAGTAGCTGGGATTACAGGCATGCGCCACTACACCCGGCTGATTTTGTATTTTTAGTAGAGACGGGGTTTCACCATGTTGACCAGGCTAGTCTTGAACTGCTGACCTCAGGTGATCCGCATGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACCTCGCCTGGCCTCACCCTGGGTTCTAATAGCCCTTTCTCCCCTGCCTGCAGGGAGGTCCTCCCAGCCCCATCGGGCCCTCACCCTGCTCAGACACCAGTGGCTTCTGCCACTCACACTCCTCAGCTAGGTGCCCTGGCTAGGCTAGCATCTTGGGGCCCTGCCTCTCTGTGCTTTTCTGCCTCCAGGCTCTGTCCTCCACTAGGAATGGCCCTCCCTTCTTCTCTTCCTGTCCACAGCGTGCCTGTCCTGCCTAGCCCAAATGCCCCCTCTACAGTGTCTTTCCTGGCTCCCACACTACATATAAGCTCTGAGCTGTGGTGTTCTCTACGGGCACTATGTTTGGGTGCACGTCAATATCACACCTTCCAGGTCAGACACCTCTCTGTGTCCTGGGGGGTGCCTGGCATATGGTAGAGGCTCAGTAACCCAAAACAGACTGGCAGAGGCATGGAATGCAGGCTCCCAAGTGAGATGTGCTAGAGTTGGAAATCCAACTCTACCACTTAGGAGCTGTGTGACTTTGAGCAAATTAGTTAACCTCTCTGGACTTCGGCTCTCTCATCTGTCAAAGAACAGCACCTACTTCATAGTAAGGTAATCCATGAAAAGCACAGGGCTTAGAACAGAACAGTATCAGCTACTACTAATAATAGCAATAGTAGCAGTAATAATAATGGGTACTTTTGAAAGCAATAGTGCCTGTGTGACCCTGGGCAAGCCATCTCACTTCTCTGGTGAAAGTCAGTCACCTGGAGAGGATATTCTCCCAGCTTCCTCCACCCTCCTTCCCCCATTCTCTTGTACAGAGCAAGAAGGGCTGCCTGGAGGAGGCAGGCTGGCCCACAGGCAGGGCTACCTTGGAGCGGTACCACTCTTCGGCTTCATGCATGTTGCTGGACGCCATTGCCTCATACTGCGTGCGGATCTCTTTCAGGGCTGCGGTGAGGTCTGGCTTGGCCACGTCAAGCTCCACATGGACCTGCTGTCGGGCCAGCTGCTCCTGGAGTTCCCGAACCTCCTGACCAGGGTGAGAGAAGCGGTACCAGGGCTCAGGGTACAGGCCACAGCTGGGGTTCCCCACGCCATTGTGTCCTCTTCTGCCTGCCCCTCGGCCAGGAGTTCGAATGCTCTCTTGTCTCTTTCCGTCTCCCTTAGTGTCTTTCTGTTTGTCTTTCATTTCCTGTCTCTACCTGCCAATCTCTGTTTCTCTCCTCTCTCTGAGTGTCTCTCTCAGTCTCAGCTTCTCTGTCTCTGTCTCTCCCTCTCTCAGTTGCAATCTCTGTGTTGAGCTTTCCTCCCTCTGCCCTGGCCTCACCTCCTCGTGGATCTTCCTCAAGAACCGGATCTCCTCCTCCAGCGACTCAATCTTCCTCTCCAGATCCAGACGGGCCAGGGTGGCTTCATCTGCTTCCTGGAGTGGCA
CCTCTGAACTGAGTCAGCACTGAGCTGAGCGATGGAGCCTCAGGGATGAAAGAATAAAGCAGAGAGCCTGGCGTCCAGGCACAGCGAGACCCAAGGGGCCCTCCCAGTGACAGGAAGAGGTGAGACAGAGGCTGCTGCTTGCTCAGAGGCCCCAGAGCAGCTCCACTGCGCACCCAAGGACTCACCACCTTTACCACTAACAAGCTCTGCCAGTTTAATGTACAGTTACTCTGTACCACGTCCTGGGCTGGGCACTGCAGTTCCTGGGAAAATGACGCAGTCCAGGCCCTTTAGGGGAAGCCTGGGAAGAGGGAACTCAGGGGGATTGGGAGGATGGGGTGGGTGAGGCTCACTCCCTGTCAAGCTGGGCAAAGCGCCGTGTCTGAGAGGCAGGCAGCTAACCGCGAGCCGGCGGCGTTCCATTTACAATCTGGTGAGCCTGTATTGGTATAACTCGTATTGTGAGGCTTTTGAGATATCTTGTGACCTTGTGATTTTCCCCGTCTTTGGTGCTTTTGCCCCCTGTAGTGACAAGCAGTTAAAAAAACAAAAACAGAAAACACTCAGAAGGGCAGTGCTTGCTCAGGGATCTGCAGACAGGGCAGATGTCAAGCTCTCACCCAGTTCTGCTGTCGAATGGGGTGCAGGGAGGGGAAGAGGGACCAGGGCCTAGCAGGACAGGGGCAGCTGCAAGCCCCACCTAGAAGTACCCTGGTATGATAGGCTCTGGCTAGGAGCGCTGCAGTGTCACGAAGGCCCCCAGGGAGAGCTGGATCCCTTTGCCCTGATCCTCAGTCCCAGTCTGGAGCAACCTACAGGCCCTGGAGGAGGGGGCAGGACTCCAGTGCCCTTCCCACGAGGCCCTGCTGTACTGACCTCGAATCTGCAGGTTGGAGAAGGTCTGCACGGGAATGGTGATCCTGAAAGAAAGCAGAGGGAGAGGGCTGCCCGGGCTGCCTGGGACACCCCTAGGCTGGGTCTTGGTGCGGGGCCATCATGACAACTTGAACGCCCTTTTCCTTGCCAGGAAAGTCTAACTCCATCTCCTAGCTTTTTCCCCAGCAGCCAACGTGCTATCTGGAGTTCCAAACGTCTGCAAGGGGCTTGAGTGTTATCTGGGAGGGGCGCATGTCTATCTGAAGGAAGATGGAAAAGGGAGGGGAAAGTGGTGAAGAAAGTTCCAAGGAGGCAGAAGAGATGGGTGAGGTGAGGAGTCCAATCTTGGCTGGGAAGATGGGGAGTATGCCTCTTAGTTTGGAGGGTGACCCAAGTCCTTGGCCTTGAGGCCTAATCAATATTGGTTGAATCCATCCATCCATTCAGTCATCAAACATCTAGTGACTGCCTGCTATGTGTGAGGCAGGCACTGTGCTGGGCATTGAGGTGGGAAGGGATCTGCACACAAGGCTGAAAAAGACTCAGTCCCTGAAGGGAGCAAGATGAGCTCTACCGTGAGGCAGCAGGGAGACTTCCCCAGGGGCTGTGATGAGGGCTCACCGGTTCTCCTCGCCCTCTAGCAGCTTCCTGTAGGTGGCGATCTCGATGTCCAGGGCCAGCTTGACATTGAGCAGGTCCTGGTACTCCTGCAAGTGGCGGGCCATCTCGTCCTTGAGGCTCTGCCCCTCTTCCTCCAGCCGCGCCAGCGCCTCCTGATAACTGGCCGCCTCCCGCACGTGCCGCTCCTCCTGCTCGCGCATCTGCCTCTCCAGGGACTCGTTCTGTGGGATGGAGCCGGCCGGTCCCGCGGAGCCCCGACCCGACTTGGGGAGGTTTCGAGGCCCGGCCCCCGGCCCCAGGCCCCGCCTCTAGCCCGGGGGTAACGTTCAGGCCCCGCCCTCGACCCAGGTCCTCGTCCCTGGCCCTTCTCCCCTGGCATCTCCTGGGGTGGCCGTCCCTGCTCCGCCCGTCCCCGTCCTGCCCTGGCCGCGCTCACCGTGCCGCGCAGAGACTCCAGGTCGCAGGTCAAGGACTGCAACTGGCGCCGGTAGTCGTTGGCTTCGTGCTTGGCCTGGCGGAGCAGCTCCGCGTTGCGGGCAGCAGCGTCTGTCGGGTCTGCAAACTAGGTGGGGGACACATATGGGGGGCTGTGTGGGCCCATGGGCAGGCACGGGCTCTGGGAAATCAGGGAGGTGAGCAGCACCCCAGTTAACCCCAGGACGTTGGCCCTGGCTGGGACTTTTCCCAACAACTGTGACCCATGGATGCGGGCAGGGTAGCGGGCTGCCAGACCTCAGCACCTAGCACAACACCTGGTCAGCAAGCGAATGAATGAACAGTGCCACAGAATCCAGAACCTTCCACACTGACAGCTGCATCTGCGGGACTGAACGCTGTCGTCTTAGGCGAGCGGAGGCCTGGGTGTTTTGTGTGTTTTTGTTTTTTTGTTTTTTTTGTTTTATTTTGAGACAGAGTCTTGCTCTTGTCGCCCAGGTTGGAAGTCAGTGGCACAATCCCGGGTCACTGCAACCTCTGCCTCCCAGGTTCAAGCAATTCTCCTGCCCCAGCCACCTGAGTAGCTGGGATTACAGGCATGCGCCACTACACCCGGCTGATTTTGTATTTTTAGTAGAGACGGGGTTTCACCATGTTGACCAGGCTAGTCTTGAACTGCTGACCTCAGGTGATCCGCATGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACCTCGCCTGGCCTCACCCTGGGTTCTAATAGCCCTTTCTCCCCTGCCTGCAGGGAGGTCCTCCCAGCCCCATCGGGCCCTCACCCTGCTCAGACACCAGTGGCTTCTGCCACTCACACTCCTCAGCTAGGTGCCCTGGCTAGGCTAGCATCTTGGGGCCCTGCCTCTCTGTGCTTTTCTGCCTCCAGGCTCTGTCCTCCACTAGGAATGGCCCTCCCTTCTTCTCTTCCTGTCCACAGCGTGCCTGTCCTGCCTAGCCCAAATGCCCCCTCTACAGTGTCTTTCCTGGCTCCCACACTACATATAAGCTCTGAGCTGTGGTGTTCTCTACGGGCACTATGTTTGGGTGCACGTCAATATCACACCTTCCAGGTCAGACACCTCTCTGTGTCCTGGGGGGTGCCTGGCATATGGTAGAGGCTCAGTAACCCAAAACAGACTGGCAGAGGCATGGAATGCAGGCTCCCAAGTGAGATGTGCTAGAGTTGGAAATCCAACTCTACCACTTAGGAGCTGTGTGACTTTGAGCAAATTAGTTAACCTCTCTGGACTTCGGCTCTCTCATCTGTCAAAGAACAGCACCTACTTCATAGTAAGGTAATCCATGAAAAGCACAGGGCTTAGAACAGAACAGTATCAGCTACTACTAATAATAGCAATAGTAGCAGTAATAATAATGGGTACTTTTGAAAGCAATAGTGCCTGTGTGACCCTGGGCAAGCCATCTCACTTCTCTGGTGAAAGTCAGTCACCTGGAGAGGATATTCTCCCAGCTTCCTCCACCCTCCTTCCCCCATTCTCTTGTACAGAGCAAGAAGGGCTGCCTGGAGGAGGCAGGCTGGCCCACAGGCAGGGCTACCTTGGAGCGGTACCACTCTTCGGCTTCATGCATGTTGCTGGACGCCATTGCCTCATACTGCGTGCGGATCTCTTTCAGGGCTGCGGTGAGGTCTGGCTTGGCCACGTCAAGCTCCACATGGACCTGCTGTCGGGCCAGCTGCTCCTGGAGTTCCCGAACCTCCTGACCAGGGTGAGAGAAGCGGTACCAGGGCTCAGGGTACAGGCCACAGCTGGGGTTCCCCACGCCATTGTGTCCTCTTCTGCCTGCCCCTCGGCCAGGAGTTCGAATGCTCTCTTGTCTCTTTCCGTCTCCCTTAGTGTCTTTCTGTTTGTCTTTCATTTCCTGTCTCTACCTGCCAATCTCTGTTTCTCTCCTCTCTCTGAGTGTCTCTCTCAGTCTCAGCTTCTCTGTCTCTGTCTCTCCCTCTCTCAGTTGCAATCTCTGTGTTGAGCTTTCCTCCCTCTGCCCTGGCCTCACCTCCTCGTGGATCTTCCTCAAGAACCGGATCTCCTCCTCCAGCGACTCAATCTTCCTCTCCAGATCCAGACGGGCCAGGGTGGCTTCATCTGCTTCCTGGAGTGGCA
Task1_train_24768
This mutation occurs in GFAP (glial fibrillary acidic protein) on Chromosome 17. Does this change lead to a known medical condition, or is it benign?
Pathogenic; Alexander disease
GGCTCACCGGTTCTCCTCGCCCTCTAGCAGCTTCCTGTAGGTGGCGATCTCGATGTCCAGGGCCAGCTTGACATTGAGCAGGTCCTGGTACTCCTGCAAGTGGCGGGCCATCTCGTCCTTGAGGCTCTGCCCCTCTTCCTCCAGCCGCGCCAGCGCCTCCTGATAACTGGCCGCCTCCCGCACGTGCCGCTCCTCCTGCTCGCGCATCTGCCTCTCCAGGGACTCGTTCTGTGGGATGGAGCCGGCCGGTCCCGCGGAGCCCCGACCCGACTTGGGGAGGTTTCGAGGCCCGGCCCCCGGCCCCAGGCCCCGCCTCTAGCCCGGGGGTAACGTTCAGGCCCCGCCCTCGACCCAGGTCCTCGTCCCTGGCCCTTCTCCCCTGGCATCTCCTGGGGTGGCCGTCCCTGCTCCGCCCGTCCCCGTCCTGCCCTGGCCGCGCTCACCGTGCCGCGCAGAGACTCCAGGTCGCAGGTCAAGGACTGCAACTGGCGCCGGTAGTCGTTGGCTTCGTGCTTGGCCTGGCGGAGCAGCTCCGCGTTGCGGGCAGCAGCGTCTGTCAGGTCTGCAAACTAGGTGGGGGACACATATGGGGGGCTGTGTGGGCCCATGGGCAGGCACGGGCTCTGGGAAATCAGGGAGGTGAGCAGCACCCCAGTTAACCCCAGGACGTTGGCCCTGGCTGGGACTTTTCCCAACAACTGTGACCCATGGATGCGGGCAGGGTAGCGGGCTGCCAGACCTCAGCACCTAGCACAACACCTGGTCAGCAAGCGAATGAATGAACAGTGCCACAGAATCCAGAACCTTCCACACTGACAGCTGCATCTGCGGGACTGAACGCTGTCGTCTTAGGCGAGCGGAGGCCTGGGTGTTTTGTGTGTTTTTGTTTTTTTGTTTTTTTTGTTTTATTTTGAGACAGAGTCTTGCTCTTGTCGCCCAGGTTGGAAGTCAGTGGCACAATCCCGGGTCACTGCAACCTCTGCCTCCCAGGTTCAAGCAATTCTCCTGCCCCAGCCACCTGAGTAGCTGGGATTACAGGCATGCGCCACTACACCCGGCTGATTTTGTATTTTTAGTAGAGACGGGGTTTCACCATGTTGACCAGGCTAGTCTTGAACTGCTGACCTCAGGTGATCCGCATGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACCTCGCCTGGCCTCACCCTGGGTTCTAATAGCCCTTTCTCCCCTGCCTGCAGGGAGGTCCTCCCAGCCCCATCGGGCCCTCACCCTGCTCAGACACCAGTGGCTTCTGCCACTCACACTCCTCAGCTAGGTGCCCTGGCTAGGCTAGCATCTTGGGGCCCTGCCTCTCTGTGCTTTTCTGCCTCCAGGCTCTGTCCTCCACTAGGAATGGCCCTCCCTTCTTCTCTTCCTGTCCACAGCGTGCCTGTCCTGCCTAGCCCAAATGCCCCCTCTACAGTGTCTTTCCTGGCTCCCACACTACATATAAGCTCTGAGCTGTGGTGTTCTCTACGGGCACTATGTTTGGGTGCACGTCAATATCACACCTTCCAGGTCAGACACCTCTCTGTGTCCTGGGGGGTGCCTGGCATATGGTAGAGGCTCAGTAACCCAAAACAGACTGGCAGAGGCATGGAATGCAGGCTCCCAAGTGAGATGTGCTAGAGTTGGAAATCCAACTCTACCACTTAGGAGCTGTGTGACTTTGAGCAAATTAGTTAACCTCTCTGGACTTCGGCTCTCTCATCTGTCAAAGAACAGCACCTACTTCATAGTAAGGTAATCCATGAAAAGCACAGGGCTTAGAACAGAACAGTATCAGCTACTACTAATAATAGCAATAGTAGCAGTAATAATAATGGGTACTTTTGAAAGCAATAGTGCCTGTGTGACCCTGGGCAAGCCATCTCACTTCTCTGGTGAAAGTCAGTCACCTGGAGAGGATATTCTCCCAGCTTCCTCCACCCTCCTTCCCCCATTCTCTTGTACAGAGCAAGAAGGGCTGCCTGGAGGAGGCAGGCTGGCCCACAGGCAGGGCTACCTTGGAGCGGTACCACTCTTCGGCTTCATGCATGTTGCTGGACGCCATTGCCTCATACTGCGTGCGGATCTCTTTCAGGGCTGCGGTGAGGTCTGGCTTGGCCACGTCAAGCTCCACATGGACCTGCTGTCGGGCCAGCTGCTCCTGGAGTTCCCGAACCTCCTGACCAGGGTGAGAGAAGCGGTACCAGGGCTCAGGGTACAGGCCACAGCTGGGGTTCCCCACGCCATTGTGTCCTCTTCTGCCTGCCCCTCGGCCAGGAGTTCGAATGCTCTCTTGTCTCTTTCCGTCTCCCTTAGTGTCTTTCTGTTTGTCTTTCATTTCCTGTCTCTACCTGCCAATCTCTGTTTCTCTCCTCTCTCTGAGTGTCTCTCTCAGTCTCAGCTTCTCTGTCTCTGTCTCTCCCTCTCTCAGTTGCAATCTCTGTGTTGAGCTTTCCTCCCTCTGCCCTGGCCTCACCTCCTCGTGGATCTTCCTCAAGAACCGGATCTCCTCCTCCAGCGACTCAATCTTCCTCTCCAGATCCAGACGGGCCAGGGTGGCTTCATCTGCTTCCTGGAGTGGCAGGAGGGGTGAGGAGTAGAGGGCCACTGGGGCCCCAGGCTCCTTCTCCCCATTCCTCAGCCTTGCCTTACCCCTCCTTCTGGGGCAGTGGGGAGCAGCACATTGCTCTGGCGGGCTGAGCTTGGGGGCTGTGTTTGGGTGGGTGGCCATCAATCCTTTCCTCCCTCCCCTGCCCCTCCCCTCCACCTCCCTGACCTGTCTATAGGCAGCCAGGTTGTTCTCGGCTTCCAGCCTCAGGTTGGTTTCATCCTGGAGCCTGGAGTGGGGGGACACATTCCTGGGTCCAGGCTCTTCTGAGGACACTTGAATACCTGCCTCAGTCTCCCTTGAGGCAGCTGTCACAGAGACCACCCCCACCCAGGACCAGTAGAGCAGCAGGAGGATTAAGGGTTGGGGGGCCTTAGACAGAGGACTTGTCTGGAGGATGAGCAGATGTGGGCTTTTGCCTTAACTCATTACTAAGGTGCCTTATCAGGGTTGGTGCACCTGCTTCTGCTCACACAGGCGCATCCACAAGCATACACTCACTGTTGCACACACACACACACACACGCACATGTCCTCCTGCACTTGAAGGCACACATGCATGTCCTGTCAGCTCAGTGAAGCGCCATGCCCCTGGGGATTCCTCTGATCCCAGGTAACCACCTTTTGAAATGAATTTTATTATGACCACCGCTTCACAGCTGTGCAAGTCAAAGTAACTTGATGGGGGTCACAAGCTGGTGGCAGGCAGTCACCTGTGCTTTGCGCCCAGACCTGCCTGCTCTTTCCCTCACTTTCTTCACCCCAGAATCCAATCTCCCTCATGGACATCAACCTTCTCCGCTTCCAACTCCTCCTTTATATGGACACAGGCTCAGAATAGGTGAGCTCGCTGCCCACAGTCACAAAGCCCAGCCATGAATGAAACACAGGGGCCCCGCTGCTCCTGCACTGCTTTCCCCAGTAGGGAGGTGCTGAGGGGACCCTGGACTCCTGGCAGAAGGCATGCGGGCATCAGATCCCCGGGGCCCTGGGCCTGTTTCTGGTCCCTCCCATCATGTTGGGGGGCAAGGATAGTGCCCCATCAAGAGGTAGGGAGGCCCAGGGAGCAGGGAGGTTCGGCCCCTCCCTGAGACTTCTCGGGCACTCCTTCTTGGGGATTCAGCCCCTTCTGCTCACAAGGCCCCCCTTCCCCATCCCCTCCTCACTTCTGCCTCACAGTGGCCAGGTCCTGTGCCAGATTGTCCCTCTCAACCTCCAGCCGGGCGCTGTTGGCGGTGAGTTGATCGAGCCGCAGCCGCAGCTCTCGCAGCTCAGCCTGGTAGACGTCTGCCAGCTTGGTGGGCTCCTTGGCCCGCAGCTGGTTCAGCTCAGCAGCCAGCGCCTTGTTTTGCTGTTCCAGGAAGCGAACCTTCTCGATGTAGCTGGCAAAGCGGTCATTGAGCTCCATCATCTCTGCCCGCTCACTGGCCCGGGTCTCCTTGAAGCCAGCATTGAGTGCCCCAGC
GGCTCACCGGTTCTCCTCGCCCTCTAGCAGCTTCCTGTAGGTGGCGATCTCGATGTCCAGGGCCAGCTTGACATTGAGCAGGTCCTGGTACTCCTGCAAGTGGCGGGCCATCTCGTCCTTGAGGCTCTGCCCCTCTTCCTCCAGCCGCGCCAGCGCCTCCTGATAACTGGCCGCCTCCCGCACGTGCCGCTCCTCCTGCTCGCGCATCTGCCTCTCCAGGGACTCGTTCTGTGGGATGGAGCCGGCCGGTCCCGCGGAGCCCCGACCCGACTTGGGGAGGTTTCGAGGCCCGGCCCCCGGCCCCAGGCCCCGCCTCTAGCCCGGGGGTAACGTTCAGGCCCCGCCCTCGACCCAGGTCCTCGTCCCTGGCCCTTCTCCCCTGGCATCTCCTGGGGTGGCCGTCCCTGCTCCGCCCGTCCCCGTCCTGCCCTGGCCGCGCTCACCGTGCCGCGCAGAGACTCCAGGTCGCAGGTCAAGGACTGCAACTGGCGCCGGTAGTCGTTGGCTTCGTGCTTGGCCTGGCGGAGCAGCTCCGCGTTGCGGGCAGCAGCGTCTGTCAGGTCTGCAAACTAGGTGGGGGACACATATGGGGGGCTGTGTGGGCCCATGGGCAGGCACGGGCTCTGGGAAATCAGGGAGGTGAGCAGCACCCCAGTTAACCCCAGGACGTTGGCCCTGGCTGGGACTTTTCCCAACAACTGTGACCCATGGATGCGGGCAGGGTAGCGGGCTGCCAGACCTCAGCACCTAGCACAACACCTGGTCAGCAAGCGAATGAATGAACAGTGCCACAGAATCCAGAACCTTCCACACTGACAGCTGCATCTGCGGGACTGAACGCTGTCGTCTTAGGCGAGCGGAGGCCTGGGTGTTTTGTGTGTTTTTGTTTTTTTGTTTTTTTTGTTTTATTTTGAGACAGAGTCTTGCTCTTGTCGCCCAGGTTGGAAGTCAGTGGCACAATCCCGGGTCACTGCAACCTCTGCCTCCCAGGTTCAAGCAATTCTCCTGCCCCAGCCACCTGAGTAGCTGGGATTACAGGCATGCGCCACTACACCCGGCTGATTTTGTATTTTTAGTAGAGACGGGGTTTCACCATGTTGACCAGGCTAGTCTTGAACTGCTGACCTCAGGTGATCCGCATGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACCTCGCCTGGCCTCACCCTGGGTTCTAATAGCCCTTTCTCCCCTGCCTGCAGGGAGGTCCTCCCAGCCCCATCGGGCCCTCACCCTGCTCAGACACCAGTGGCTTCTGCCACTCACACTCCTCAGCTAGGTGCCCTGGCTAGGCTAGCATCTTGGGGCCCTGCCTCTCTGTGCTTTTCTGCCTCCAGGCTCTGTCCTCCACTAGGAATGGCCCTCCCTTCTTCTCTTCCTGTCCACAGCGTGCCTGTCCTGCCTAGCCCAAATGCCCCCTCTACAGTGTCTTTCCTGGCTCCCACACTACATATAAGCTCTGAGCTGTGGTGTTCTCTACGGGCACTATGTTTGGGTGCACGTCAATATCACACCTTCCAGGTCAGACACCTCTCTGTGTCCTGGGGGGTGCCTGGCATATGGTAGAGGCTCAGTAACCCAAAACAGACTGGCAGAGGCATGGAATGCAGGCTCCCAAGTGAGATGTGCTAGAGTTGGAAATCCAACTCTACCACTTAGGAGCTGTGTGACTTTGAGCAAATTAGTTAACCTCTCTGGACTTCGGCTCTCTCATCTGTCAAAGAACAGCACCTACTTCATAGTAAGGTAATCCATGAAAAGCACAGGGCTTAGAACAGAACAGTATCAGCTACTACTAATAATAGCAATAGTAGCAGTAATAATAATGGGTACTTTTGAAAGCAATAGTGCCTGTGTGACCCTGGGCAAGCCATCTCACTTCTCTGGTGAAAGTCAGTCACCTGGAGAGGATATTCTCCCAGCTTCCTCCACCCTCCTTCCCCCATTCTCTTGTACAGAGCAAGAAGGGCTGCCTGGAGGAGGCAGGCTGGCCCACAGGCAGGGCTACCTTGGAGCAGTACCACTCTTCGGCTTCATGCATGTTGCTGGACGCCATTGCCTCATACTGCGTGCGGATCTCTTTCAGGGCTGCGGTGAGGTCTGGCTTGGCCACGTCAAGCTCCACATGGACCTGCTGTCGGGCCAGCTGCTCCTGGAGTTCCCGAACCTCCTGACCAGGGTGAGAGAAGCGGTACCAGGGCTCAGGGTACAGGCCACAGCTGGGGTTCCCCACGCCATTGTGTCCTCTTCTGCCTGCCCCTCGGCCAGGAGTTCGAATGCTCTCTTGTCTCTTTCCGTCTCCCTTAGTGTCTTTCTGTTTGTCTTTCATTTCCTGTCTCTACCTGCCAATCTCTGTTTCTCTCCTCTCTCTGAGTGTCTCTCTCAGTCTCAGCTTCTCTGTCTCTGTCTCTCCCTCTCTCAGTTGCAATCTCTGTGTTGAGCTTTCCTCCCTCTGCCCTGGCCTCACCTCCTCGTGGATCTTCCTCAAGAACCGGATCTCCTCCTCCAGCGACTCAATCTTCCTCTCCAGATCCAGACGGGCCAGGGTGGCTTCATCTGCTTCCTGGAGTGGCAGGAGGGGTGAGGAGTAGAGGGCCACTGGGGCCCCAGGCTCCTTCTCCCCATTCCTCAGCCTTGCCTTACCCCTCCTTCTGGGGCAGTGGGGAGCAGCACATTGCTCTGGCGGGCTGAGCTTGGGGGCTGTGTTTGGGTGGGTGGCCATCAATCCTTTCCTCCCTCCCCTGCCCCTCCCCTCCACCTCCCTGACCTGTCTATAGGCAGCCAGGTTGTTCTCGGCTTCCAGCCTCAGGTTGGTTTCATCCTGGAGCCTGGAGTGGGGGGACACATTCCTGGGTCCAGGCTCTTCTGAGGACACTTGAATACCTGCCTCAGTCTCCCTTGAGGCAGCTGTCACAGAGACCACCCCCACCCAGGACCAGTAGAGCAGCAGGAGGATTAAGGGTTGGGGGGCCTTAGACAGAGGACTTGTCTGGAGGATGAGCAGATGTGGGCTTTTGCCTTAACTCATTACTAAGGTGCCTTATCAGGGTTGGTGCACCTGCTTCTGCTCACACAGGCGCATCCACAAGCATACACTCACTGTTGCACACACACACACACACACGCACATGTCCTCCTGCACTTGAAGGCACACATGCATGTCCTGTCAGCTCAGTGAAGCGCCATGCCCCTGGGGATTCCTCTGATCCCAGGTAACCACCTTTTGAAATGAATTTTATTATGACCACCGCTTCACAGCTGTGCAAGTCAAAGTAACTTGATGGGGGTCACAAGCTGGTGGCAGGCAGTCACCTGTGCTTTGCGCCCAGACCTGCCTGCTCTTTCCCTCACTTTCTTCACCCCAGAATCCAATCTCCCTCATGGACATCAACCTTCTCCGCTTCCAACTCCTCCTTTATATGGACACAGGCTCAGAATAGGTGAGCTCGCTGCCCACAGTCACAAAGCCCAGCCATGAATGAAACACAGGGGCCCCGCTGCTCCTGCACTGCTTTCCCCAGTAGGGAGGTGCTGAGGGGACCCTGGACTCCTGGCAGAAGGCATGCGGGCATCAGATCCCCGGGGCCCTGGGCCTGTTTCTGGTCCCTCCCATCATGTTGGGGGGCAAGGATAGTGCCCCATCAAGAGGTAGGGAGGCCCAGGGAGCAGGGAGGTTCGGCCCCTCCCTGAGACTTCTCGGGCACTCCTTCTTGGGGATTCAGCCCCTTCTGCTCACAAGGCCCCCCTTCCCCATCCCCTCCTCACTTCTGCCTCACAGTGGCCAGGTCCTGTGCCAGATTGTCCCTCTCAACCTCCAGCCGGGCGCTGTTGGCGGTGAGTTGATCGAGCCGCAGCCGCAGCTCTCGCAGCTCAGCCTGGTAGACGTCTGCCAGCTTGGTGGGCTCCTTGGCCCGCAGCTGGTTCAGCTCAGCAGCCAGCGCCTTGTTTTGCTGTTCCAGGAAGCGAACCTTCTCGATGTAGCTGGCAAAGCGGTCATTGAGCTCCATCATCTCTGCCCGCTCACTGGCCCGGGTCTCCTTGAAGCCAGCATTGAGTGCCCCAGC
Task1_train_24769
This mutation is located in gene GFAP (glial fibrillary acidic protein) on Chromosome 17. Is it associated with a disease or is it a benign polymorphism?
Pathogenic; not provided
CCTCGCCCTCTAGCAGCTTCCTGTAGGTGGCGATCTCGATGTCCAGGGCCAGCTTGACATTGAGCAGGTCCTGGTACTCCTGCAAGTGGCGGGCCATCTCGTCCTTGAGGCTCTGCCCCTCTTCCTCCAGCCGCGCCAGCGCCTCCTGATAACTGGCCGCCTCCCGCACGTGCCGCTCCTCCTGCTCGCGCATCTGCCTCTCCAGGGACTCGTTCTGTGGGATGGAGCCGGCCGGTCCCGCGGAGCCCCGACCCGACTTGGGGAGGTTTCGAGGCCCGGCCCCCGGCCCCAGGCCCCGCCTCTAGCCCGGGGGTAACGTTCAGGCCCCGCCCTCGACCCAGGTCCTCGTCCCTGGCCCTTCTCCCCTGGCATCTCCTGGGGTGGCCGTCCCTGCTCCGCCCGTCCCCGTCCTGCCCTGGCCGCGCTCACCGTGCCGCGCAGAGACTCCAGGTCGCAGGTCAAGGACTGCAACTGGCGCCGGTAGTCGTTGGCTTCGTGCTTGGCCTGGCGGAGCAGCTCCGCGTTGCGGGCAGCAGCGTCTGTCAGGTCTGCAAACTAGGTGGGGGACACATATGGGGGGCTGTGTGGGCCCATGGGCAGGCACGGGCTCTGGGAAATCAGGGAGGTGAGCAGCACCCCAGTTAACCCCAGGACGTTGGCCCTGGCTGGGACTTTTCCCAACAACTGTGACCCATGGATGCGGGCAGGGTAGCGGGCTGCCAGACCTCAGCACCTAGCACAACACCTGGTCAGCAAGCGAATGAATGAACAGTGCCACAGAATCCAGAACCTTCCACACTGACAGCTGCATCTGCGGGACTGAACGCTGTCGTCTTAGGCGAGCGGAGGCCTGGGTGTTTTGTGTGTTTTTGTTTTTTTGTTTTTTTTGTTTTATTTTGAGACAGAGTCTTGCTCTTGTCGCCCAGGTTGGAAGTCAGTGGCACAATCCCGGGTCACTGCAACCTCTGCCTCCCAGGTTCAAGCAATTCTCCTGCCCCAGCCACCTGAGTAGCTGGGATTACAGGCATGCGCCACTACACCCGGCTGATTTTGTATTTTTAGTAGAGACGGGGTTTCACCATGTTGACCAGGCTAGTCTTGAACTGCTGACCTCAGGTGATCCGCATGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACCTCGCCTGGCCTCACCCTGGGTTCTAATAGCCCTTTCTCCCCTGCCTGCAGGGAGGTCCTCCCAGCCCCATCGGGCCCTCACCCTGCTCAGACACCAGTGGCTTCTGCCACTCACACTCCTCAGCTAGGTGCCCTGGCTAGGCTAGCATCTTGGGGCCCTGCCTCTCTGTGCTTTTCTGCCTCCAGGCTCTGTCCTCCACTAGGAATGGCCCTCCCTTCTTCTCTTCCTGTCCACAGCGTGCCTGTCCTGCCTAGCCCAAATGCCCCCTCTACAGTGTCTTTCCTGGCTCCCACACTACATATAAGCTCTGAGCTGTGGTGTTCTCTACGGGCACTATGTTTGGGTGCACGTCAATATCACACCTTCCAGGTCAGACACCTCTCTGTGTCCTGGGGGGTGCCTGGCATATGGTAGAGGCTCAGTAACCCAAAACAGACTGGCAGAGGCATGGAATGCAGGCTCCCAAGTGAGATGTGCTAGAGTTGGAAATCCAACTCTACCACTTAGGAGCTGTGTGACTTTGAGCAAATTAGTTAACCTCTCTGGACTTCGGCTCTCTCATCTGTCAAAGAACAGCACCTACTTCATAGTAAGGTAATCCATGAAAAGCACAGGGCTTAGAACAGAACAGTATCAGCTACTACTAATAATAGCAATAGTAGCAGTAATAATAATGGGTACTTTTGAAAGCAATAGTGCCTGTGTGACCCTGGGCAAGCCATCTCACTTCTCTGGTGAAAGTCAGTCACCTGGAGAGGATATTCTCCCAGCTTCCTCCACCCTCCTTCCCCCATTCTCTTGTACAGAGCAAGAAGGGCTGCCTGGAGGAGGCAGGCTGGCCCACAGGCAGGGCTACCTTGGAGCGGTACCACTCTTCGGCTTCATGCATGTTGCTGGACGCCATTGCCTCATACTGCGTGCGGATCTCTTTCAGGGCTGCGGTGAGGTCTGGCTTGGCCACGTCAAGCTCCACATGGACCTGCTGTCGGGCCAGCTGCTCCTGGAGTTCCCGAACCTCCTGACCAGGGTGAGAGAAGCGGTACCAGGGCTCAGGGTACAGGCCACAGCTGGGGTTCCCCACGCCATTGTGTCCTCTTCTGCCTGCCCCTCGGCCAGGAGTTCGAATGCTCTCTTGTCTCTTTCCGTCTCCCTTAGTGTCTTTCTGTTTGTCTTTCATTTCCTGTCTCTACCTGCCAATCTCTGTTTCTCTCCTCTCTCTGAGTGTCTCTCTCAGTCTCAGCTTCTCTGTCTCTGTCTCTCCCTCTCTCAGTTGCAATCTCTGTGTTGAGCTTTCCTCCCTCTGCCCTGGCCTCACCTCCTCGTGGATCTTCCTCAAGAACCGGATCTCCTCCTCCAGCGACTCAATCTTCCTCTCCAGATCCAGACGGGCCAGGGTGGCTTCATCTGCTTCCTGGAGTGGCAGGAGGGGTGAGGAGTAGAGGGCCACTGGGGCCCCAGGCTCCTTCTCCCCATTCCTCAGCCTTGCCTTACCCCTCCTTCTGGGGCAGTGGGGAGCAGCACATTGCTCTGGCGGGCTGAGCTTGGGGGCTGTGTTTGGGTGGGTGGCCATCAATCCTTTCCTCCCTCCCCTGCCCCTCCCCTCCACCTCCCTGACCTGTCTATAGGCAGCCAGGTTGTTCTCGGCTTCCAGCCTCAGGTTGGTTTCATCCTGGAGCCTGGAGTGGGGGGACACATTCCTGGGTCCAGGCTCTTCTGAGGACACTTGAATACCTGCCTCAGTCTCCCTTGAGGCAGCTGTCACAGAGACCACCCCCACCCAGGACCAGTAGAGCAGCAGGAGGATTAAGGGTTGGGGGGCCTTAGACAGAGGACTTGTCTGGAGGATGAGCAGATGTGGGCTTTTGCCTTAACTCATTACTAAGGTGCCTTATCAGGGTTGGTGCACCTGCTTCTGCTCACACAGGCGCATCCACAAGCATACACTCACTGTTGCACACACACACACACACACGCACATGTCCTCCTGCACTTGAAGGCACACATGCATGTCCTGTCAGCTCAGTGAAGCGCCATGCCCCTGGGGATTCCTCTGATCCCAGGTAACCACCTTTTGAAATGAATTTTATTATGACCACCGCTTCACAGCTGTGCAAGTCAAAGTAACTTGATGGGGGTCACAAGCTGGTGGCAGGCAGTCACCTGTGCTTTGCGCCCAGACCTGCCTGCTCTTTCCCTCACTTTCTTCACCCCAGAATCCAATCTCCCTCATGGACATCAACCTTCTCCGCTTCCAACTCCTCCTTTATATGGACACAGGCTCAGAATAGGTGAGCTCGCTGCCCACAGTCACAAAGCCCAGCCATGAATGAAACACAGGGGCCCCGCTGCTCCTGCACTGCTTTCCCCAGTAGGGAGGTGCTGAGGGGACCCTGGACTCCTGGCAGAAGGCATGCGGGCATCAGATCCCCGGGGCCCTGGGCCTGTTTCTGGTCCCTCCCATCATGTTGGGGGGCAAGGATAGTGCCCCATCAAGAGGTAGGGAGGCCCAGGGAGCAGGGAGGTTCGGCCCCTCCCTGAGACTTCTCGGGCACTCCTTCTTGGGGATTCAGCCCCTTCTGCTCACAAGGCCCCCCTTCCCCATCCCCTCCTCACTTCTGCCTCACAGTGGCCAGGTCCTGTGCCAGATTGTCCCTCTCAACCTCCAGCCGGGCGCTGTTGGCGGTGAGTTGATCGAGCCGCAGCCGCAGCTCTCGCAGCTCAGCCTGGTAGACGTCTGCCAGCTTGGTGGGCTCCTTGGCCCGCAGCTGGTTCAGCTCAGCAGCCAGCGCCTTGTTTTGCTGTTCCAGGAAGCGAACCTTCTCGATGTAGCTGGCAAAGCGGTCATTGAGCTCCATCATCTCTGCCCGCTCACTGGCCCGGGTCTCCTTGAAGCCAGCATTGAGTGCCCCAGCCAGGGAGAAATCCA
CCTCGCCCTCTAGCAGCTTCCTGTAGGTGGCGATCTCGATGTCCAGGGCCAGCTTGACATTGAGCAGGTCCTGGTACTCCTGCAAGTGGCGGGCCATCTCGTCCTTGAGGCTCTGCCCCTCTTCCTCCAGCCGCGCCAGCGCCTCCTGATAACTGGCCGCCTCCCGCACGTGCCGCTCCTCCTGCTCGCGCATCTGCCTCTCCAGGGACTCGTTCTGTGGGATGGAGCCGGCCGGTCCCGCGGAGCCCCGACCCGACTTGGGGAGGTTTCGAGGCCCGGCCCCCGGCCCCAGGCCCCGCCTCTAGCCCGGGGGTAACGTTCAGGCCCCGCCCTCGACCCAGGTCCTCGTCCCTGGCCCTTCTCCCCTGGCATCTCCTGGGGTGGCCGTCCCTGCTCCGCCCGTCCCCGTCCTGCCCTGGCCGCGCTCACCGTGCCGCGCAGAGACTCCAGGTCGCAGGTCAAGGACTGCAACTGGCGCCGGTAGTCGTTGGCTTCGTGCTTGGCCTGGCGGAGCAGCTCCGCGTTGCGGGCAGCAGCGTCTGTCAGGTCTGCAAACTAGGTGGGGGACACATATGGGGGGCTGTGTGGGCCCATGGGCAGGCACGGGCTCTGGGAAATCAGGGAGGTGAGCAGCACCCCAGTTAACCCCAGGACGTTGGCCCTGGCTGGGACTTTTCCCAACAACTGTGACCCATGGATGCGGGCAGGGTAGCGGGCTGCCAGACCTCAGCACCTAGCACAACACCTGGTCAGCAAGCGAATGAATGAACAGTGCCACAGAATCCAGAACCTTCCACACTGACAGCTGCATCTGCGGGACTGAACGCTGTCGTCTTAGGCGAGCGGAGGCCTGGGTGTTTTGTGTGTTTTTGTTTTTTTGTTTTTTTTGTTTTATTTTGAGACAGAGTCTTGCTCTTGTCGCCCAGGTTGGAAGTCAGTGGCACAATCCCGGGTCACTGCAACCTCTGCCTCCCAGGTTCAAGCAATTCTCCTGCCCCAGCCACCTGAGTAGCTGGGATTACAGGCATGCGCCACTACACCCGGCTGATTTTGTATTTTTAGTAGAGACGGGGTTTCACCATGTTGACCAGGCTAGTCTTGAACTGCTGACCTCAGGTGATCCGCATGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACCTCGCCTGGCCTCACCCTGGGTTCTAATAGCCCTTTCTCCCCTGCCTGCAGGGAGGTCCTCCCAGCCCCATCGGGCCCTCACCCTGCTCAGACACCAGTGGCTTCTGCCACTCACACTCCTCAGCTAGGTGCCCTGGCTAGGCTAGCATCTTGGGGCCCTGCCTCTCTGTGCTTTTCTGCCTCCAGGCTCTGTCCTCCACTAGGAATGGCCCTCCCTTCTTCTCTTCCTGTCCACAGCGTGCCTGTCCTGCCTAGCCCAAATGCCCCCTCTACAGTGTCTTTCCTGGCTCCCACACTACATATAAGCTCTGAGCTGTGGTGTTCTCTACGGGCACTATGTTTGGGTGCACGTCAATATCACACCTTCCAGGTCAGACACCTCTCTGTGTCCTGGGGGGTGCCTGGCATATGGTAGAGGCTCAGTAACCCAAAACAGACTGGCAGAGGCATGGAATGCAGGCTCCCAAGTGAGATGTGCTAGAGTTGGAAATCCAACTCTACCACTTAGGAGCTGTGTGACTTTGAGCAAATTAGTTAACCTCTCTGGACTTCGGCTCTCTCATCTGTCAAAGAACAGCACCTACTTCATAGTAAGGTAATCCATGAAAAGCACAGGGCTTAGAACAGAACAGTATCAGCTACTACTAATAATAGCAATAGTAGCAGTAATAATAATGGGTACTTTTGAAAGCAATAGTGCCTGTGTGACCCTGGGCAAGCCATCTCACTTCTCTGGTGAAAGTCAGTCACCTGGAGAGGATATTCTCCCAGCTTCCTCCACCCTCCTTCCCCCATTCTCTTGTACAGAGCAAGAAGGGCTGCCTGGAGGAGGCAGGCTGGCCCACAGGCAGGGCTACCTTGGAGCGGTACCACTCTTCGCCTTCATGCATGTTGCTGGACGCCATTGCCTCATACTGCGTGCGGATCTCTTTCAGGGCTGCGGTGAGGTCTGGCTTGGCCACGTCAAGCTCCACATGGACCTGCTGTCGGGCCAGCTGCTCCTGGAGTTCCCGAACCTCCTGACCAGGGTGAGAGAAGCGGTACCAGGGCTCAGGGTACAGGCCACAGCTGGGGTTCCCCACGCCATTGTGTCCTCTTCTGCCTGCCCCTCGGCCAGGAGTTCGAATGCTCTCTTGTCTCTTTCCGTCTCCCTTAGTGTCTTTCTGTTTGTCTTTCATTTCCTGTCTCTACCTGCCAATCTCTGTTTCTCTCCTCTCTCTGAGTGTCTCTCTCAGTCTCAGCTTCTCTGTCTCTGTCTCTCCCTCTCTCAGTTGCAATCTCTGTGTTGAGCTTTCCTCCCTCTGCCCTGGCCTCACCTCCTCGTGGATCTTCCTCAAGAACCGGATCTCCTCCTCCAGCGACTCAATCTTCCTCTCCAGATCCAGACGGGCCAGGGTGGCTTCATCTGCTTCCTGGAGTGGCAGGAGGGGTGAGGAGTAGAGGGCCACTGGGGCCCCAGGCTCCTTCTCCCCATTCCTCAGCCTTGCCTTACCCCTCCTTCTGGGGCAGTGGGGAGCAGCACATTGCTCTGGCGGGCTGAGCTTGGGGGCTGTGTTTGGGTGGGTGGCCATCAATCCTTTCCTCCCTCCCCTGCCCCTCCCCTCCACCTCCCTGACCTGTCTATAGGCAGCCAGGTTGTTCTCGGCTTCCAGCCTCAGGTTGGTTTCATCCTGGAGCCTGGAGTGGGGGGACACATTCCTGGGTCCAGGCTCTTCTGAGGACACTTGAATACCTGCCTCAGTCTCCCTTGAGGCAGCTGTCACAGAGACCACCCCCACCCAGGACCAGTAGAGCAGCAGGAGGATTAAGGGTTGGGGGGCCTTAGACAGAGGACTTGTCTGGAGGATGAGCAGATGTGGGCTTTTGCCTTAACTCATTACTAAGGTGCCTTATCAGGGTTGGTGCACCTGCTTCTGCTCACACAGGCGCATCCACAAGCATACACTCACTGTTGCACACACACACACACACACGCACATGTCCTCCTGCACTTGAAGGCACACATGCATGTCCTGTCAGCTCAGTGAAGCGCCATGCCCCTGGGGATTCCTCTGATCCCAGGTAACCACCTTTTGAAATGAATTTTATTATGACCACCGCTTCACAGCTGTGCAAGTCAAAGTAACTTGATGGGGGTCACAAGCTGGTGGCAGGCAGTCACCTGTGCTTTGCGCCCAGACCTGCCTGCTCTTTCCCTCACTTTCTTCACCCCAGAATCCAATCTCCCTCATGGACATCAACCTTCTCCGCTTCCAACTCCTCCTTTATATGGACACAGGCTCAGAATAGGTGAGCTCGCTGCCCACAGTCACAAAGCCCAGCCATGAATGAAACACAGGGGCCCCGCTGCTCCTGCACTGCTTTCCCCAGTAGGGAGGTGCTGAGGGGACCCTGGACTCCTGGCAGAAGGCATGCGGGCATCAGATCCCCGGGGCCCTGGGCCTGTTTCTGGTCCCTCCCATCATGTTGGGGGGCAAGGATAGTGCCCCATCAAGAGGTAGGGAGGCCCAGGGAGCAGGGAGGTTCGGCCCCTCCCTGAGACTTCTCGGGCACTCCTTCTTGGGGATTCAGCCCCTTCTGCTCACAAGGCCCCCCTTCCCCATCCCCTCCTCACTTCTGCCTCACAGTGGCCAGGTCCTGTGCCAGATTGTCCCTCTCAACCTCCAGCCGGGCGCTGTTGGCGGTGAGTTGATCGAGCCGCAGCCGCAGCTCTCGCAGCTCAGCCTGGTAGACGTCTGCCAGCTTGGTGGGCTCCTTGGCCCGCAGCTGGTTCAGCTCAGCAGCCAGCGCCTTGTTTTGCTGTTCCAGGAAGCGAACCTTCTCGATGTAGCTGGCAAAGCGGTCATTGAGCTCCATCATCTCTGCCCGCTCACTGGCCCGGGTCTCCTTGAAGCCAGCATTGAGTGCCCCAGCCAGGGAGAAATCCA
Task1_train_24770
This variant affects gene GFAP (glial fibrillary acidic protein) located on Chromosome 17. Evaluate its biological effect and specify any disease association.
Pathogenic; Alexander disease
CCAGGGCCAGCTTGACATTGAGCAGGTCCTGGTACTCCTGCAAGTGGCGGGCCATCTCGTCCTTGAGGCTCTGCCCCTCTTCCTCCAGCCGCGCCAGCGCCTCCTGATAACTGGCCGCCTCCCGCACGTGCCGCTCCTCCTGCTCGCGCATCTGCCTCTCCAGGGACTCGTTCTGTGGGATGGAGCCGGCCGGTCCCGCGGAGCCCCGACCCGACTTGGGGAGGTTTCGAGGCCCGGCCCCCGGCCCCAGGCCCCGCCTCTAGCCCGGGGGTAACGTTCAGGCCCCGCCCTCGACCCAGGTCCTCGTCCCTGGCCCTTCTCCCCTGGCATCTCCTGGGGTGGCCGTCCCTGCTCCGCCCGTCCCCGTCCTGCCCTGGCCGCGCTCACCGTGCCGCGCAGAGACTCCAGGTCGCAGGTCAAGGACTGCAACTGGCGCCGGTAGTCGTTGGCTTCGTGCTTGGCCTGGCGGAGCAGCTCCGCGTTGCGGGCAGCAGCGTCTGTCAGGTCTGCAAACTAGGTGGGGGACACATATGGGGGGCTGTGTGGGCCCATGGGCAGGCACGGGCTCTGGGAAATCAGGGAGGTGAGCAGCACCCCAGTTAACCCCAGGACGTTGGCCCTGGCTGGGACTTTTCCCAACAACTGTGACCCATGGATGCGGGCAGGGTAGCGGGCTGCCAGACCTCAGCACCTAGCACAACACCTGGTCAGCAAGCGAATGAATGAACAGTGCCACAGAATCCAGAACCTTCCACACTGACAGCTGCATCTGCGGGACTGAACGCTGTCGTCTTAGGCGAGCGGAGGCCTGGGTGTTTTGTGTGTTTTTGTTTTTTTGTTTTTTTTGTTTTATTTTGAGACAGAGTCTTGCTCTTGTCGCCCAGGTTGGAAGTCAGTGGCACAATCCCGGGTCACTGCAACCTCTGCCTCCCAGGTTCAAGCAATTCTCCTGCCCCAGCCACCTGAGTAGCTGGGATTACAGGCATGCGCCACTACACCCGGCTGATTTTGTATTTTTAGTAGAGACGGGGTTTCACCATGTTGACCAGGCTAGTCTTGAACTGCTGACCTCAGGTGATCCGCATGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACCTCGCCTGGCCTCACCCTGGGTTCTAATAGCCCTTTCTCCCCTGCCTGCAGGGAGGTCCTCCCAGCCCCATCGGGCCCTCACCCTGCTCAGACACCAGTGGCTTCTGCCACTCACACTCCTCAGCTAGGTGCCCTGGCTAGGCTAGCATCTTGGGGCCCTGCCTCTCTGTGCTTTTCTGCCTCCAGGCTCTGTCCTCCACTAGGAATGGCCCTCCCTTCTTCTCTTCCTGTCCACAGCGTGCCTGTCCTGCCTAGCCCAAATGCCCCCTCTACAGTGTCTTTCCTGGCTCCCACACTACATATAAGCTCTGAGCTGTGGTGTTCTCTACGGGCACTATGTTTGGGTGCACGTCAATATCACACCTTCCAGGTCAGACACCTCTCTGTGTCCTGGGGGGTGCCTGGCATATGGTAGAGGCTCAGTAACCCAAAACAGACTGGCAGAGGCATGGAATGCAGGCTCCCAAGTGAGATGTGCTAGAGTTGGAAATCCAACTCTACCACTTAGGAGCTGTGTGACTTTGAGCAAATTAGTTAACCTCTCTGGACTTCGGCTCTCTCATCTGTCAAAGAACAGCACCTACTTCATAGTAAGGTAATCCATGAAAAGCACAGGGCTTAGAACAGAACAGTATCAGCTACTACTAATAATAGCAATAGTAGCAGTAATAATAATGGGTACTTTTGAAAGCAATAGTGCCTGTGTGACCCTGGGCAAGCCATCTCACTTCTCTGGTGAAAGTCAGTCACCTGGAGAGGATATTCTCCCAGCTTCCTCCACCCTCCTTCCCCCATTCTCTTGTACAGAGCAAGAAGGGCTGCCTGGAGGAGGCAGGCTGGCCCACAGGCAGGGCTACCTTGGAGCGGTACCACTCTTCGGCTTCATGCATGTTGCTGGACGCCATTGCCTCATACTGCGTGCGGATCTCTTTCAGGGCTGCGGTGAGGTCTGGCTTGGCCACGTCAAGCTCCACATGGACCTGCTGTCGGGCCAGCTGCTCCTGGAGTTCCCGAACCTCCTGACCAGGGTGAGAGAAGCGGTACCAGGGCTCAGGGTACAGGCCACAGCTGGGGTTCCCCACGCCATTGTGTCCTCTTCTGCCTGCCCCTCGGCCAGGAGTTCGAATGCTCTCTTGTCTCTTTCCGTCTCCCTTAGTGTCTTTCTGTTTGTCTTTCATTTCCTGTCTCTACCTGCCAATCTCTGTTTCTCTCCTCTCTCTGAGTGTCTCTCTCAGTCTCAGCTTCTCTGTCTCTGTCTCTCCCTCTCTCAGTTGCAATCTCTGTGTTGAGCTTTCCTCCCTCTGCCCTGGCCTCACCTCCTCGTGGATCTTCCTCAAGAACCGGATCTCCTCCTCCAGCGACTCAATCTTCCTCTCCAGATCCAGACGGGCCAGGGTGGCTTCATCTGCTTCCTGGAGTGGCAGGAGGGGTGAGGAGTAGAGGGCCACTGGGGCCCCAGGCTCCTTCTCCCCATTCCTCAGCCTTGCCTTACCCCTCCTTCTGGGGCAGTGGGGAGCAGCACATTGCTCTGGCGGGCTGAGCTTGGGGGCTGTGTTTGGGTGGGTGGCCATCAATCCTTTCCTCCCTCCCCTGCCCCTCCCCTCCACCTCCCTGACCTGTCTATAGGCAGCCAGGTTGTTCTCGGCTTCCAGCCTCAGGTTGGTTTCATCCTGGAGCCTGGAGTGGGGGGACACATTCCTGGGTCCAGGCTCTTCTGAGGACACTTGAATACCTGCCTCAGTCTCCCTTGAGGCAGCTGTCACAGAGACCACCCCCACCCAGGACCAGTAGAGCAGCAGGAGGATTAAGGGTTGGGGGGCCTTAGACAGAGGACTTGTCTGGAGGATGAGCAGATGTGGGCTTTTGCCTTAACTCATTACTAAGGTGCCTTATCAGGGTTGGTGCACCTGCTTCTGCTCACACAGGCGCATCCACAAGCATACACTCACTGTTGCACACACACACACACACACGCACATGTCCTCCTGCACTTGAAGGCACACATGCATGTCCTGTCAGCTCAGTGAAGCGCCATGCCCCTGGGGATTCCTCTGATCCCAGGTAACCACCTTTTGAAATGAATTTTATTATGACCACCGCTTCACAGCTGTGCAAGTCAAAGTAACTTGATGGGGGTCACAAGCTGGTGGCAGGCAGTCACCTGTGCTTTGCGCCCAGACCTGCCTGCTCTTTCCCTCACTTTCTTCACCCCAGAATCCAATCTCCCTCATGGACATCAACCTTCTCCGCTTCCAACTCCTCCTTTATATGGACACAGGCTCAGAATAGGTGAGCTCGCTGCCCACAGTCACAAAGCCCAGCCATGAATGAAACACAGGGGCCCCGCTGCTCCTGCACTGCTTTCCCCAGTAGGGAGGTGCTGAGGGGACCCTGGACTCCTGGCAGAAGGCATGCGGGCATCAGATCCCCGGGGCCCTGGGCCTGTTTCTGGTCCCTCCCATCATGTTGGGGGGCAAGGATAGTGCCCCATCAAGAGGTAGGGAGGCCCAGGGAGCAGGGAGGTTCGGCCCCTCCCTGAGACTTCTCGGGCACTCCTTCTTGGGGATTCAGCCCCTTCTGCTCACAAGGCCCCCCTTCCCCATCCCCTCCTCACTTCTGCCTCACAGTGGCCAGGTCCTGTGCCAGATTGTCCCTCTCAACCTCCAGCCGGGCGCTGTTGGCGGTGAGTTGATCGAGCCGCAGCCGCAGCTCTCGCAGCTCAGCCTGGTAGACGTCTGCCAGCTTGGTGGGCTCCTTGGCCCGCAGCTGGTTCAGCTCAGCAGCCAGCGCCTTGTTTTGCTGTTCCAGGAAGCGAACCTTCTCGATGTAGCTGGCAAAGCGGTCATTGAGCTCCATCATCTCTGCCCGCTCACTGGCCCGGGTCTCCTTGAAGCCAGCATTGAGTGCCCCAGCCAGGGAGAAATCCACCCGGGTCGGGAGTGGAGGGGGCATTCGAGCCAGGGAGAGGC
CCAGGGCCAGCTTGACATTGAGCAGGTCCTGGTACTCCTGCAAGTGGCGGGCCATCTCGTCCTTGAGGCTCTGCCCCTCTTCCTCCAGCCGCGCCAGCGCCTCCTGATAACTGGCCGCCTCCCGCACGTGCCGCTCCTCCTGCTCGCGCATCTGCCTCTCCAGGGACTCGTTCTGTGGGATGGAGCCGGCCGGTCCCGCGGAGCCCCGACCCGACTTGGGGAGGTTTCGAGGCCCGGCCCCCGGCCCCAGGCCCCGCCTCTAGCCCGGGGGTAACGTTCAGGCCCCGCCCTCGACCCAGGTCCTCGTCCCTGGCCCTTCTCCCCTGGCATCTCCTGGGGTGGCCGTCCCTGCTCCGCCCGTCCCCGTCCTGCCCTGGCCGCGCTCACCGTGCCGCGCAGAGACTCCAGGTCGCAGGTCAAGGACTGCAACTGGCGCCGGTAGTCGTTGGCTTCGTGCTTGGCCTGGCGGAGCAGCTCCGCGTTGCGGGCAGCAGCGTCTGTCAGGTCTGCAAACTAGGTGGGGGACACATATGGGGGGCTGTGTGGGCCCATGGGCAGGCACGGGCTCTGGGAAATCAGGGAGGTGAGCAGCACCCCAGTTAACCCCAGGACGTTGGCCCTGGCTGGGACTTTTCCCAACAACTGTGACCCATGGATGCGGGCAGGGTAGCGGGCTGCCAGACCTCAGCACCTAGCACAACACCTGGTCAGCAAGCGAATGAATGAACAGTGCCACAGAATCCAGAACCTTCCACACTGACAGCTGCATCTGCGGGACTGAACGCTGTCGTCTTAGGCGAGCGGAGGCCTGGGTGTTTTGTGTGTTTTTGTTTTTTTGTTTTTTTTGTTTTATTTTGAGACAGAGTCTTGCTCTTGTCGCCCAGGTTGGAAGTCAGTGGCACAATCCCGGGTCACTGCAACCTCTGCCTCCCAGGTTCAAGCAATTCTCCTGCCCCAGCCACCTGAGTAGCTGGGATTACAGGCATGCGCCACTACACCCGGCTGATTTTGTATTTTTAGTAGAGACGGGGTTTCACCATGTTGACCAGGCTAGTCTTGAACTGCTGACCTCAGGTGATCCGCATGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACCTCGCCTGGCCTCACCCTGGGTTCTAATAGCCCTTTCTCCCCTGCCTGCAGGGAGGTCCTCCCAGCCCCATCGGGCCCTCACCCTGCTCAGACACCAGTGGCTTCTGCCACTCACACTCCTCAGCTAGGTGCCCTGGCTAGGCTAGCATCTTGGGGCCCTGCCTCTCTGTGCTTTTCTGCCTCCAGGCTCTGTCCTCCACTAGGAATGGCCCTCCCTTCTTCTCTTCCTGTCCACAGCGTGCCTGTCCTGCCTAGCCCAAATGCCCCCTCTACAGTGTCTTTCCTGGCTCCCACACTACATATAAGCTCTGAGCTGTGGTGTTCTCTACGGGCACTATGTTTGGGTGCACGTCAATATCACACCTTCCAGGTCAGACACCTCTCTGTGTCCTGGGGGGTGCCTGGCATATGGTAGAGGCTCAGTAACCCAAAACAGACTGGCAGAGGCATGGAATGCAGGCTCCCAAGTGAGATGTGCTAGAGTTGGAAATCCAACTCTACCACTTAGGAGCTGTGTGACTTTGAGCAAATTAGTTAACCTCTCTGGACTTCGGCTCTCTCATCTGTCAAAGAACAGCACCTACTTCATAGTAAGGTAATCCATGAAAAGCACAGGGCTTAGAACAGAACAGTATCAGCTACTACTAATAATAGCAATAGTAGCAGTAATAATAATGGGTACTTTTGAAAGCAATAGTGCCTGTGTGACCCTGGGCAAGCCATCTCACTTCTCTGGTGAAAGTCAGTCACCTGGAGAGGATATTCTCCCAGCTTCCTCCACCCTCCTTCCCCCATTCTCTTGTACAGAGCAAGAAGGGCTGCCTGGAGGAGGCAGGCTGGCCCACAGGCAGGGCTACCTTGGAGCGGTACCACTCTTCGGCTTCATGCATGTTGCTGGACGCCATTGCCTCATACTGCGTGAGGATCTCTTTCAGGGCTGCGGTGAGGTCTGGCTTGGCCACGTCAAGCTCCACATGGACCTGCTGTCGGGCCAGCTGCTCCTGGAGTTCCCGAACCTCCTGACCAGGGTGAGAGAAGCGGTACCAGGGCTCAGGGTACAGGCCACAGCTGGGGTTCCCCACGCCATTGTGTCCTCTTCTGCCTGCCCCTCGGCCAGGAGTTCGAATGCTCTCTTGTCTCTTTCCGTCTCCCTTAGTGTCTTTCTGTTTGTCTTTCATTTCCTGTCTCTACCTGCCAATCTCTGTTTCTCTCCTCTCTCTGAGTGTCTCTCTCAGTCTCAGCTTCTCTGTCTCTGTCTCTCCCTCTCTCAGTTGCAATCTCTGTGTTGAGCTTTCCTCCCTCTGCCCTGGCCTCACCTCCTCGTGGATCTTCCTCAAGAACCGGATCTCCTCCTCCAGCGACTCAATCTTCCTCTCCAGATCCAGACGGGCCAGGGTGGCTTCATCTGCTTCCTGGAGTGGCAGGAGGGGTGAGGAGTAGAGGGCCACTGGGGCCCCAGGCTCCTTCTCCCCATTCCTCAGCCTTGCCTTACCCCTCCTTCTGGGGCAGTGGGGAGCAGCACATTGCTCTGGCGGGCTGAGCTTGGGGGCTGTGTTTGGGTGGGTGGCCATCAATCCTTTCCTCCCTCCCCTGCCCCTCCCCTCCACCTCCCTGACCTGTCTATAGGCAGCCAGGTTGTTCTCGGCTTCCAGCCTCAGGTTGGTTTCATCCTGGAGCCTGGAGTGGGGGGACACATTCCTGGGTCCAGGCTCTTCTGAGGACACTTGAATACCTGCCTCAGTCTCCCTTGAGGCAGCTGTCACAGAGACCACCCCCACCCAGGACCAGTAGAGCAGCAGGAGGATTAAGGGTTGGGGGGCCTTAGACAGAGGACTTGTCTGGAGGATGAGCAGATGTGGGCTTTTGCCTTAACTCATTACTAAGGTGCCTTATCAGGGTTGGTGCACCTGCTTCTGCTCACACAGGCGCATCCACAAGCATACACTCACTGTTGCACACACACACACACACACGCACATGTCCTCCTGCACTTGAAGGCACACATGCATGTCCTGTCAGCTCAGTGAAGCGCCATGCCCCTGGGGATTCCTCTGATCCCAGGTAACCACCTTTTGAAATGAATTTTATTATGACCACCGCTTCACAGCTGTGCAAGTCAAAGTAACTTGATGGGGGTCACAAGCTGGTGGCAGGCAGTCACCTGTGCTTTGCGCCCAGACCTGCCTGCTCTTTCCCTCACTTTCTTCACCCCAGAATCCAATCTCCCTCATGGACATCAACCTTCTCCGCTTCCAACTCCTCCTTTATATGGACACAGGCTCAGAATAGGTGAGCTCGCTGCCCACAGTCACAAAGCCCAGCCATGAATGAAACACAGGGGCCCCGCTGCTCCTGCACTGCTTTCCCCAGTAGGGAGGTGCTGAGGGGACCCTGGACTCCTGGCAGAAGGCATGCGGGCATCAGATCCCCGGGGCCCTGGGCCTGTTTCTGGTCCCTCCCATCATGTTGGGGGGCAAGGATAGTGCCCCATCAAGAGGTAGGGAGGCCCAGGGAGCAGGGAGGTTCGGCCCCTCCCTGAGACTTCTCGGGCACTCCTTCTTGGGGATTCAGCCCCTTCTGCTCACAAGGCCCCCCTTCCCCATCCCCTCCTCACTTCTGCCTCACAGTGGCCAGGTCCTGTGCCAGATTGTCCCTCTCAACCTCCAGCCGGGCGCTGTTGGCGGTGAGTTGATCGAGCCGCAGCCGCAGCTCTCGCAGCTCAGCCTGGTAGACGTCTGCCAGCTTGGTGGGCTCCTTGGCCCGCAGCTGGTTCAGCTCAGCAGCCAGCGCCTTGTTTTGCTGTTCCAGGAAGCGAACCTTCTCGATGTAGCTGGCAAAGCGGTCATTGAGCTCCATCATCTCTGCCCGCTCACTGGCCCGGGTCTCCTTGAAGCCAGCATTGAGTGCCCCAGCCAGGGAGAAATCCACCCGGGTCGGGAGTGGAGGGGGCATTCGAGCCAGGGAGAGGC
Task1_train_24771
A genetic alteration is present in GFAP (glial fibrillary acidic protein) on Chromosome 17. Is this variant benign or disease-causing, and if the latter, which condition is involved?
Pathogenic; Alexander disease
CCAGGGCCAGCTTGACATTGAGCAGGTCCTGGTACTCCTGCAAGTGGCGGGCCATCTCGTCCTTGAGGCTCTGCCCCTCTTCCTCCAGCCGCGCCAGCGCCTCCTGATAACTGGCCGCCTCCCGCACGTGCCGCTCCTCCTGCTCGCGCATCTGCCTCTCCAGGGACTCGTTCTGTGGGATGGAGCCGGCCGGTCCCGCGGAGCCCCGACCCGACTTGGGGAGGTTTCGAGGCCCGGCCCCCGGCCCCAGGCCCCGCCTCTAGCCCGGGGGTAACGTTCAGGCCCCGCCCTCGACCCAGGTCCTCGTCCCTGGCCCTTCTCCCCTGGCATCTCCTGGGGTGGCCGTCCCTGCTCCGCCCGTCCCCGTCCTGCCCTGGCCGCGCTCACCGTGCCGCGCAGAGACTCCAGGTCGCAGGTCAAGGACTGCAACTGGCGCCGGTAGTCGTTGGCTTCGTGCTTGGCCTGGCGGAGCAGCTCCGCGTTGCGGGCAGCAGCGTCTGTCAGGTCTGCAAACTAGGTGGGGGACACATATGGGGGGCTGTGTGGGCCCATGGGCAGGCACGGGCTCTGGGAAATCAGGGAGGTGAGCAGCACCCCAGTTAACCCCAGGACGTTGGCCCTGGCTGGGACTTTTCCCAACAACTGTGACCCATGGATGCGGGCAGGGTAGCGGGCTGCCAGACCTCAGCACCTAGCACAACACCTGGTCAGCAAGCGAATGAATGAACAGTGCCACAGAATCCAGAACCTTCCACACTGACAGCTGCATCTGCGGGACTGAACGCTGTCGTCTTAGGCGAGCGGAGGCCTGGGTGTTTTGTGTGTTTTTGTTTTTTTGTTTTTTTTGTTTTATTTTGAGACAGAGTCTTGCTCTTGTCGCCCAGGTTGGAAGTCAGTGGCACAATCCCGGGTCACTGCAACCTCTGCCTCCCAGGTTCAAGCAATTCTCCTGCCCCAGCCACCTGAGTAGCTGGGATTACAGGCATGCGCCACTACACCCGGCTGATTTTGTATTTTTAGTAGAGACGGGGTTTCACCATGTTGACCAGGCTAGTCTTGAACTGCTGACCTCAGGTGATCCGCATGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACCTCGCCTGGCCTCACCCTGGGTTCTAATAGCCCTTTCTCCCCTGCCTGCAGGGAGGTCCTCCCAGCCCCATCGGGCCCTCACCCTGCTCAGACACCAGTGGCTTCTGCCACTCACACTCCTCAGCTAGGTGCCCTGGCTAGGCTAGCATCTTGGGGCCCTGCCTCTCTGTGCTTTTCTGCCTCCAGGCTCTGTCCTCCACTAGGAATGGCCCTCCCTTCTTCTCTTCCTGTCCACAGCGTGCCTGTCCTGCCTAGCCCAAATGCCCCCTCTACAGTGTCTTTCCTGGCTCCCACACTACATATAAGCTCTGAGCTGTGGTGTTCTCTACGGGCACTATGTTTGGGTGCACGTCAATATCACACCTTCCAGGTCAGACACCTCTCTGTGTCCTGGGGGGTGCCTGGCATATGGTAGAGGCTCAGTAACCCAAAACAGACTGGCAGAGGCATGGAATGCAGGCTCCCAAGTGAGATGTGCTAGAGTTGGAAATCCAACTCTACCACTTAGGAGCTGTGTGACTTTGAGCAAATTAGTTAACCTCTCTGGACTTCGGCTCTCTCATCTGTCAAAGAACAGCACCTACTTCATAGTAAGGTAATCCATGAAAAGCACAGGGCTTAGAACAGAACAGTATCAGCTACTACTAATAATAGCAATAGTAGCAGTAATAATAATGGGTACTTTTGAAAGCAATAGTGCCTGTGTGACCCTGGGCAAGCCATCTCACTTCTCTGGTGAAAGTCAGTCACCTGGAGAGGATATTCTCCCAGCTTCCTCCACCCTCCTTCCCCCATTCTCTTGTACAGAGCAAGAAGGGCTGCCTGGAGGAGGCAGGCTGGCCCACAGGCAGGGCTACCTTGGAGCGGTACCACTCTTCGGCTTCATGCATGTTGCTGGACGCCATTGCCTCATACTGCGTGCGGATCTCTTTCAGGGCTGCGGTGAGGTCTGGCTTGGCCACGTCAAGCTCCACATGGACCTGCTGTCGGGCCAGCTGCTCCTGGAGTTCCCGAACCTCCTGACCAGGGTGAGAGAAGCGGTACCAGGGCTCAGGGTACAGGCCACAGCTGGGGTTCCCCACGCCATTGTGTCCTCTTCTGCCTGCCCCTCGGCCAGGAGTTCGAATGCTCTCTTGTCTCTTTCCGTCTCCCTTAGTGTCTTTCTGTTTGTCTTTCATTTCCTGTCTCTACCTGCCAATCTCTGTTTCTCTCCTCTCTCTGAGTGTCTCTCTCAGTCTCAGCTTCTCTGTCTCTGTCTCTCCCTCTCTCAGTTGCAATCTCTGTGTTGAGCTTTCCTCCCTCTGCCCTGGCCTCACCTCCTCGTGGATCTTCCTCAAGAACCGGATCTCCTCCTCCAGCGACTCAATCTTCCTCTCCAGATCCAGACGGGCCAGGGTGGCTTCATCTGCTTCCTGGAGTGGCAGGAGGGGTGAGGAGTAGAGGGCCACTGGGGCCCCAGGCTCCTTCTCCCCATTCCTCAGCCTTGCCTTACCCCTCCTTCTGGGGCAGTGGGGAGCAGCACATTGCTCTGGCGGGCTGAGCTTGGGGGCTGTGTTTGGGTGGGTGGCCATCAATCCTTTCCTCCCTCCCCTGCCCCTCCCCTCCACCTCCCTGACCTGTCTATAGGCAGCCAGGTTGTTCTCGGCTTCCAGCCTCAGGTTGGTTTCATCCTGGAGCCTGGAGTGGGGGGACACATTCCTGGGTCCAGGCTCTTCTGAGGACACTTGAATACCTGCCTCAGTCTCCCTTGAGGCAGCTGTCACAGAGACCACCCCCACCCAGGACCAGTAGAGCAGCAGGAGGATTAAGGGTTGGGGGGCCTTAGACAGAGGACTTGTCTGGAGGATGAGCAGATGTGGGCTTTTGCCTTAACTCATTACTAAGGTGCCTTATCAGGGTTGGTGCACCTGCTTCTGCTCACACAGGCGCATCCACAAGCATACACTCACTGTTGCACACACACACACACACACGCACATGTCCTCCTGCACTTGAAGGCACACATGCATGTCCTGTCAGCTCAGTGAAGCGCCATGCCCCTGGGGATTCCTCTGATCCCAGGTAACCACCTTTTGAAATGAATTTTATTATGACCACCGCTTCACAGCTGTGCAAGTCAAAGTAACTTGATGGGGGTCACAAGCTGGTGGCAGGCAGTCACCTGTGCTTTGCGCCCAGACCTGCCTGCTCTTTCCCTCACTTTCTTCACCCCAGAATCCAATCTCCCTCATGGACATCAACCTTCTCCGCTTCCAACTCCTCCTTTATATGGACACAGGCTCAGAATAGGTGAGCTCGCTGCCCACAGTCACAAAGCCCAGCCATGAATGAAACACAGGGGCCCCGCTGCTCCTGCACTGCTTTCCCCAGTAGGGAGGTGCTGAGGGGACCCTGGACTCCTGGCAGAAGGCATGCGGGCATCAGATCCCCGGGGCCCTGGGCCTGTTTCTGGTCCCTCCCATCATGTTGGGGGGCAAGGATAGTGCCCCATCAAGAGGTAGGGAGGCCCAGGGAGCAGGGAGGTTCGGCCCCTCCCTGAGACTTCTCGGGCACTCCTTCTTGGGGATTCAGCCCCTTCTGCTCACAAGGCCCCCCTTCCCCATCCCCTCCTCACTTCTGCCTCACAGTGGCCAGGTCCTGTGCCAGATTGTCCCTCTCAACCTCCAGCCGGGCGCTGTTGGCGGTGAGTTGATCGAGCCGCAGCCGCAGCTCTCGCAGCTCAGCCTGGTAGACGTCTGCCAGCTTGGTGGGCTCCTTGGCCCGCAGCTGGTTCAGCTCAGCAGCCAGCGCCTTGTTTTGCTGTTCCAGGAAGCGAACCTTCTCGATGTAGCTGGCAAAGCGGTCATTGAGCTCCATCATCTCTGCCCGCTCACTGGCCCGGGTCTCCTTGAAGCCAGCATTGAGTGCCCCAGCCAGGGAGAAATCCACCCGGGTCGGGAGTGGAGGGGGCATTCGAGCCAGGGAGAGGC
CCAGGGCCAGCTTGACATTGAGCAGGTCCTGGTACTCCTGCAAGTGGCGGGCCATCTCGTCCTTGAGGCTCTGCCCCTCTTCCTCCAGCCGCGCCAGCGCCTCCTGATAACTGGCCGCCTCCCGCACGTGCCGCTCCTCCTGCTCGCGCATCTGCCTCTCCAGGGACTCGTTCTGTGGGATGGAGCCGGCCGGTCCCGCGGAGCCCCGACCCGACTTGGGGAGGTTTCGAGGCCCGGCCCCCGGCCCCAGGCCCCGCCTCTAGCCCGGGGGTAACGTTCAGGCCCCGCCCTCGACCCAGGTCCTCGTCCCTGGCCCTTCTCCCCTGGCATCTCCTGGGGTGGCCGTCCCTGCTCCGCCCGTCCCCGTCCTGCCCTGGCCGCGCTCACCGTGCCGCGCAGAGACTCCAGGTCGCAGGTCAAGGACTGCAACTGGCGCCGGTAGTCGTTGGCTTCGTGCTTGGCCTGGCGGAGCAGCTCCGCGTTGCGGGCAGCAGCGTCTGTCAGGTCTGCAAACTAGGTGGGGGACACATATGGGGGGCTGTGTGGGCCCATGGGCAGGCACGGGCTCTGGGAAATCAGGGAGGTGAGCAGCACCCCAGTTAACCCCAGGACGTTGGCCCTGGCTGGGACTTTTCCCAACAACTGTGACCCATGGATGCGGGCAGGGTAGCGGGCTGCCAGACCTCAGCACCTAGCACAACACCTGGTCAGCAAGCGAATGAATGAACAGTGCCACAGAATCCAGAACCTTCCACACTGACAGCTGCATCTGCGGGACTGAACGCTGTCGTCTTAGGCGAGCGGAGGCCTGGGTGTTTTGTGTGTTTTTGTTTTTTTGTTTTTTTTGTTTTATTTTGAGACAGAGTCTTGCTCTTGTCGCCCAGGTTGGAAGTCAGTGGCACAATCCCGGGTCACTGCAACCTCTGCCTCCCAGGTTCAAGCAATTCTCCTGCCCCAGCCACCTGAGTAGCTGGGATTACAGGCATGCGCCACTACACCCGGCTGATTTTGTATTTTTAGTAGAGACGGGGTTTCACCATGTTGACCAGGCTAGTCTTGAACTGCTGACCTCAGGTGATCCGCATGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACCTCGCCTGGCCTCACCCTGGGTTCTAATAGCCCTTTCTCCCCTGCCTGCAGGGAGGTCCTCCCAGCCCCATCGGGCCCTCACCCTGCTCAGACACCAGTGGCTTCTGCCACTCACACTCCTCAGCTAGGTGCCCTGGCTAGGCTAGCATCTTGGGGCCCTGCCTCTCTGTGCTTTTCTGCCTCCAGGCTCTGTCCTCCACTAGGAATGGCCCTCCCTTCTTCTCTTCCTGTCCACAGCGTGCCTGTCCTGCCTAGCCCAAATGCCCCCTCTACAGTGTCTTTCCTGGCTCCCACACTACATATAAGCTCTGAGCTGTGGTGTTCTCTACGGGCACTATGTTTGGGTGCACGTCAATATCACACCTTCCAGGTCAGACACCTCTCTGTGTCCTGGGGGGTGCCTGGCATATGGTAGAGGCTCAGTAACCCAAAACAGACTGGCAGAGGCATGGAATGCAGGCTCCCAAGTGAGATGTGCTAGAGTTGGAAATCCAACTCTACCACTTAGGAGCTGTGTGACTTTGAGCAAATTAGTTAACCTCTCTGGACTTCGGCTCTCTCATCTGTCAAAGAACAGCACCTACTTCATAGTAAGGTAATCCATGAAAAGCACAGGGCTTAGAACAGAACAGTATCAGCTACTACTAATAATAGCAATAGTAGCAGTAATAATAATGGGTACTTTTGAAAGCAATAGTGCCTGTGTGACCCTGGGCAAGCCATCTCACTTCTCTGGTGAAAGTCAGTCACCTGGAGAGGATATTCTCCCAGCTTCCTCCACCCTCCTTCCCCCATTCTCTTGTACAGAGCAAGAAGGGCTGCCTGGAGGAGGCAGGCTGGCCCACAGGCAGGGCTACCTTGGAGCGGTACCACTCTTCGGCTTCATGCATGTTGCTGGACGCCATTGCCTCATACTGCGTGTGGATCTCTTTCAGGGCTGCGGTGAGGTCTGGCTTGGCCACGTCAAGCTCCACATGGACCTGCTGTCGGGCCAGCTGCTCCTGGAGTTCCCGAACCTCCTGACCAGGGTGAGAGAAGCGGTACCAGGGCTCAGGGTACAGGCCACAGCTGGGGTTCCCCACGCCATTGTGTCCTCTTCTGCCTGCCCCTCGGCCAGGAGTTCGAATGCTCTCTTGTCTCTTTCCGTCTCCCTTAGTGTCTTTCTGTTTGTCTTTCATTTCCTGTCTCTACCTGCCAATCTCTGTTTCTCTCCTCTCTCTGAGTGTCTCTCTCAGTCTCAGCTTCTCTGTCTCTGTCTCTCCCTCTCTCAGTTGCAATCTCTGTGTTGAGCTTTCCTCCCTCTGCCCTGGCCTCACCTCCTCGTGGATCTTCCTCAAGAACCGGATCTCCTCCTCCAGCGACTCAATCTTCCTCTCCAGATCCAGACGGGCCAGGGTGGCTTCATCTGCTTCCTGGAGTGGCAGGAGGGGTGAGGAGTAGAGGGCCACTGGGGCCCCAGGCTCCTTCTCCCCATTCCTCAGCCTTGCCTTACCCCTCCTTCTGGGGCAGTGGGGAGCAGCACATTGCTCTGGCGGGCTGAGCTTGGGGGCTGTGTTTGGGTGGGTGGCCATCAATCCTTTCCTCCCTCCCCTGCCCCTCCCCTCCACCTCCCTGACCTGTCTATAGGCAGCCAGGTTGTTCTCGGCTTCCAGCCTCAGGTTGGTTTCATCCTGGAGCCTGGAGTGGGGGGACACATTCCTGGGTCCAGGCTCTTCTGAGGACACTTGAATACCTGCCTCAGTCTCCCTTGAGGCAGCTGTCACAGAGACCACCCCCACCCAGGACCAGTAGAGCAGCAGGAGGATTAAGGGTTGGGGGGCCTTAGACAGAGGACTTGTCTGGAGGATGAGCAGATGTGGGCTTTTGCCTTAACTCATTACTAAGGTGCCTTATCAGGGTTGGTGCACCTGCTTCTGCTCACACAGGCGCATCCACAAGCATACACTCACTGTTGCACACACACACACACACACGCACATGTCCTCCTGCACTTGAAGGCACACATGCATGTCCTGTCAGCTCAGTGAAGCGCCATGCCCCTGGGGATTCCTCTGATCCCAGGTAACCACCTTTTGAAATGAATTTTATTATGACCACCGCTTCACAGCTGTGCAAGTCAAAGTAACTTGATGGGGGTCACAAGCTGGTGGCAGGCAGTCACCTGTGCTTTGCGCCCAGACCTGCCTGCTCTTTCCCTCACTTTCTTCACCCCAGAATCCAATCTCCCTCATGGACATCAACCTTCTCCGCTTCCAACTCCTCCTTTATATGGACACAGGCTCAGAATAGGTGAGCTCGCTGCCCACAGTCACAAAGCCCAGCCATGAATGAAACACAGGGGCCCCGCTGCTCCTGCACTGCTTTCCCCAGTAGGGAGGTGCTGAGGGGACCCTGGACTCCTGGCAGAAGGCATGCGGGCATCAGATCCCCGGGGCCCTGGGCCTGTTTCTGGTCCCTCCCATCATGTTGGGGGGCAAGGATAGTGCCCCATCAAGAGGTAGGGAGGCCCAGGGAGCAGGGAGGTTCGGCCCCTCCCTGAGACTTCTCGGGCACTCCTTCTTGGGGATTCAGCCCCTTCTGCTCACAAGGCCCCCCTTCCCCATCCCCTCCTCACTTCTGCCTCACAGTGGCCAGGTCCTGTGCCAGATTGTCCCTCTCAACCTCCAGCCGGGCGCTGTTGGCGGTGAGTTGATCGAGCCGCAGCCGCAGCTCTCGCAGCTCAGCCTGGTAGACGTCTGCCAGCTTGGTGGGCTCCTTGGCCCGCAGCTGGTTCAGCTCAGCAGCCAGCGCCTTGTTTTGCTGTTCCAGGAAGCGAACCTTCTCGATGTAGCTGGCAAAGCGGTCATTGAGCTCCATCATCTCTGCCCGCTCACTGGCCCGGGTCTCCTTGAAGCCAGCATTGAGTGCCCCAGCCAGGGAGAAATCCACCCGGGTCGGGAGTGGAGGGGGCATTCGAGCCAGGGAGAGGC
Task1_train_24772
Chromosome 17 houses a mutation in gene GFAP (glial fibrillary acidic protein). Classify its clinical impact — is it pathogenic or benign, and what disease does it lead to if any?
Pathogenic; Spastic paraplegia, intellectual disability, nystagmus, and obesity
CCAGGGCCAGCTTGACATTGAGCAGGTCCTGGTACTCCTGCAAGTGGCGGGCCATCTCGTCCTTGAGGCTCTGCCCCTCTTCCTCCAGCCGCGCCAGCGCCTCCTGATAACTGGCCGCCTCCCGCACGTGCCGCTCCTCCTGCTCGCGCATCTGCCTCTCCAGGGACTCGTTCTGTGGGATGGAGCCGGCCGGTCCCGCGGAGCCCCGACCCGACTTGGGGAGGTTTCGAGGCCCGGCCCCCGGCCCCAGGCCCCGCCTCTAGCCCGGGGGTAACGTTCAGGCCCCGCCCTCGACCCAGGTCCTCGTCCCTGGCCCTTCTCCCCTGGCATCTCCTGGGGTGGCCGTCCCTGCTCCGCCCGTCCCCGTCCTGCCCTGGCCGCGCTCACCGTGCCGCGCAGAGACTCCAGGTCGCAGGTCAAGGACTGCAACTGGCGCCGGTAGTCGTTGGCTTCGTGCTTGGCCTGGCGGAGCAGCTCCGCGTTGCGGGCAGCAGCGTCTGTCAGGTCTGCAAACTAGGTGGGGGACACATATGGGGGGCTGTGTGGGCCCATGGGCAGGCACGGGCTCTGGGAAATCAGGGAGGTGAGCAGCACCCCAGTTAACCCCAGGACGTTGGCCCTGGCTGGGACTTTTCCCAACAACTGTGACCCATGGATGCGGGCAGGGTAGCGGGCTGCCAGACCTCAGCACCTAGCACAACACCTGGTCAGCAAGCGAATGAATGAACAGTGCCACAGAATCCAGAACCTTCCACACTGACAGCTGCATCTGCGGGACTGAACGCTGTCGTCTTAGGCGAGCGGAGGCCTGGGTGTTTTGTGTGTTTTTGTTTTTTTGTTTTTTTTGTTTTATTTTGAGACAGAGTCTTGCTCTTGTCGCCCAGGTTGGAAGTCAGTGGCACAATCCCGGGTCACTGCAACCTCTGCCTCCCAGGTTCAAGCAATTCTCCTGCCCCAGCCACCTGAGTAGCTGGGATTACAGGCATGCGCCACTACACCCGGCTGATTTTGTATTTTTAGTAGAGACGGGGTTTCACCATGTTGACCAGGCTAGTCTTGAACTGCTGACCTCAGGTGATCCGCATGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACCTCGCCTGGCCTCACCCTGGGTTCTAATAGCCCTTTCTCCCCTGCCTGCAGGGAGGTCCTCCCAGCCCCATCGGGCCCTCACCCTGCTCAGACACCAGTGGCTTCTGCCACTCACACTCCTCAGCTAGGTGCCCTGGCTAGGCTAGCATCTTGGGGCCCTGCCTCTCTGTGCTTTTCTGCCTCCAGGCTCTGTCCTCCACTAGGAATGGCCCTCCCTTCTTCTCTTCCTGTCCACAGCGTGCCTGTCCTGCCTAGCCCAAATGCCCCCTCTACAGTGTCTTTCCTGGCTCCCACACTACATATAAGCTCTGAGCTGTGGTGTTCTCTACGGGCACTATGTTTGGGTGCACGTCAATATCACACCTTCCAGGTCAGACACCTCTCTGTGTCCTGGGGGGTGCCTGGCATATGGTAGAGGCTCAGTAACCCAAAACAGACTGGCAGAGGCATGGAATGCAGGCTCCCAAGTGAGATGTGCTAGAGTTGGAAATCCAACTCTACCACTTAGGAGCTGTGTGACTTTGAGCAAATTAGTTAACCTCTCTGGACTTCGGCTCTCTCATCTGTCAAAGAACAGCACCTACTTCATAGTAAGGTAATCCATGAAAAGCACAGGGCTTAGAACAGAACAGTATCAGCTACTACTAATAATAGCAATAGTAGCAGTAATAATAATGGGTACTTTTGAAAGCAATAGTGCCTGTGTGACCCTGGGCAAGCCATCTCACTTCTCTGGTGAAAGTCAGTCACCTGGAGAGGATATTCTCCCAGCTTCCTCCACCCTCCTTCCCCCATTCTCTTGTACAGAGCAAGAAGGGCTGCCTGGAGGAGGCAGGCTGGCCCACAGGCAGGGCTACCTTGGAGCGGTACCACTCTTCGGCTTCATGCATGTTGCTGGACGCCATTGCCTCATACTGCGTGCGGATCTCTTTCAGGGCTGCGGTGAGGTCTGGCTTGGCCACGTCAAGCTCCACATGGACCTGCTGTCGGGCCAGCTGCTCCTGGAGTTCCCGAACCTCCTGACCAGGGTGAGAGAAGCGGTACCAGGGCTCAGGGTACAGGCCACAGCTGGGGTTCCCCACGCCATTGTGTCCTCTTCTGCCTGCCCCTCGGCCAGGAGTTCGAATGCTCTCTTGTCTCTTTCCGTCTCCCTTAGTGTCTTTCTGTTTGTCTTTCATTTCCTGTCTCTACCTGCCAATCTCTGTTTCTCTCCTCTCTCTGAGTGTCTCTCTCAGTCTCAGCTTCTCTGTCTCTGTCTCTCCCTCTCTCAGTTGCAATCTCTGTGTTGAGCTTTCCTCCCTCTGCCCTGGCCTCACCTCCTCGTGGATCTTCCTCAAGAACCGGATCTCCTCCTCCAGCGACTCAATCTTCCTCTCCAGATCCAGACGGGCCAGGGTGGCTTCATCTGCTTCCTGGAGTGGCAGGAGGGGTGAGGAGTAGAGGGCCACTGGGGCCCCAGGCTCCTTCTCCCCATTCCTCAGCCTTGCCTTACCCCTCCTTCTGGGGCAGTGGGGAGCAGCACATTGCTCTGGCGGGCTGAGCTTGGGGGCTGTGTTTGGGTGGGTGGCCATCAATCCTTTCCTCCCTCCCCTGCCCCTCCCCTCCACCTCCCTGACCTGTCTATAGGCAGCCAGGTTGTTCTCGGCTTCCAGCCTCAGGTTGGTTTCATCCTGGAGCCTGGAGTGGGGGGACACATTCCTGGGTCCAGGCTCTTCTGAGGACACTTGAATACCTGCCTCAGTCTCCCTTGAGGCAGCTGTCACAGAGACCACCCCCACCCAGGACCAGTAGAGCAGCAGGAGGATTAAGGGTTGGGGGGCCTTAGACAGAGGACTTGTCTGGAGGATGAGCAGATGTGGGCTTTTGCCTTAACTCATTACTAAGGTGCCTTATCAGGGTTGGTGCACCTGCTTCTGCTCACACAGGCGCATCCACAAGCATACACTCACTGTTGCACACACACACACACACACGCACATGTCCTCCTGCACTTGAAGGCACACATGCATGTCCTGTCAGCTCAGTGAAGCGCCATGCCCCTGGGGATTCCTCTGATCCCAGGTAACCACCTTTTGAAATGAATTTTATTATGACCACCGCTTCACAGCTGTGCAAGTCAAAGTAACTTGATGGGGGTCACAAGCTGGTGGCAGGCAGTCACCTGTGCTTTGCGCCCAGACCTGCCTGCTCTTTCCCTCACTTTCTTCACCCCAGAATCCAATCTCCCTCATGGACATCAACCTTCTCCGCTTCCAACTCCTCCTTTATATGGACACAGGCTCAGAATAGGTGAGCTCGCTGCCCACAGTCACAAAGCCCAGCCATGAATGAAACACAGGGGCCCCGCTGCTCCTGCACTGCTTTCCCCAGTAGGGAGGTGCTGAGGGGACCCTGGACTCCTGGCAGAAGGCATGCGGGCATCAGATCCCCGGGGCCCTGGGCCTGTTTCTGGTCCCTCCCATCATGTTGGGGGGCAAGGATAGTGCCCCATCAAGAGGTAGGGAGGCCCAGGGAGCAGGGAGGTTCGGCCCCTCCCTGAGACTTCTCGGGCACTCCTTCTTGGGGATTCAGCCCCTTCTGCTCACAAGGCCCCCCTTCCCCATCCCCTCCTCACTTCTGCCTCACAGTGGCCAGGTCCTGTGCCAGATTGTCCCTCTCAACCTCCAGCCGGGCGCTGTTGGCGGTGAGTTGATCGAGCCGCAGCCGCAGCTCTCGCAGCTCAGCCTGGTAGACGTCTGCCAGCTTGGTGGGCTCCTTGGCCCGCAGCTGGTTCAGCTCAGCAGCCAGCGCCTTGTTTTGCTGTTCCAGGAAGCGAACCTTCTCGATGTAGCTGGCAAAGCGGTCATTGAGCTCCATCATCTCTGCCCGCTCACTGGCCCGGGTCTCCTTGAAGCCAGCATTGAGTGCCCCAGCCAGGGAGAAATCCACCCGGGTCGGGAGTGGAGGGGGCATTCGAGCCAGGGAGAGGC
CCAGGGCCAGCTTGACATTGAGCAGGTCCTGGTACTCCTGCAAGTGGCGGGCCATCTCGTCCTTGAGGCTCTGCCCCTCTTCCTCCAGCCGCGCCAGCGCCTCCTGATAACTGGCCGCCTCCCGCACGTGCCGCTCCTCCTGCTCGCGCATCTGCCTCTCCAGGGACTCGTTCTGTGGGATGGAGCCGGCCGGTCCCGCGGAGCCCCGACCCGACTTGGGGAGGTTTCGAGGCCCGGCCCCCGGCCCCAGGCCCCGCCTCTAGCCCGGGGGTAACGTTCAGGCCCCGCCCTCGACCCAGGTCCTCGTCCCTGGCCCTTCTCCCCTGGCATCTCCTGGGGTGGCCGTCCCTGCTCCGCCCGTCCCCGTCCTGCCCTGGCCGCGCTCACCGTGCCGCGCAGAGACTCCAGGTCGCAGGTCAAGGACTGCAACTGGCGCCGGTAGTCGTTGGCTTCGTGCTTGGCCTGGCGGAGCAGCTCCGCGTTGCGGGCAGCAGCGTCTGTCAGGTCTGCAAACTAGGTGGGGGACACATATGGGGGGCTGTGTGGGCCCATGGGCAGGCACGGGCTCTGGGAAATCAGGGAGGTGAGCAGCACCCCAGTTAACCCCAGGACGTTGGCCCTGGCTGGGACTTTTCCCAACAACTGTGACCCATGGATGCGGGCAGGGTAGCGGGCTGCCAGACCTCAGCACCTAGCACAACACCTGGTCAGCAAGCGAATGAATGAACAGTGCCACAGAATCCAGAACCTTCCACACTGACAGCTGCATCTGCGGGACTGAACGCTGTCGTCTTAGGCGAGCGGAGGCCTGGGTGTTTTGTGTGTTTTTGTTTTTTTGTTTTTTTTGTTTTATTTTGAGACAGAGTCTTGCTCTTGTCGCCCAGGTTGGAAGTCAGTGGCACAATCCCGGGTCACTGCAACCTCTGCCTCCCAGGTTCAAGCAATTCTCCTGCCCCAGCCACCTGAGTAGCTGGGATTACAGGCATGCGCCACTACACCCGGCTGATTTTGTATTTTTAGTAGAGACGGGGTTTCACCATGTTGACCAGGCTAGTCTTGAACTGCTGACCTCAGGTGATCCGCATGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACCTCGCCTGGCCTCACCCTGGGTTCTAATAGCCCTTTCTCCCCTGCCTGCAGGGAGGTCCTCCCAGCCCCATCGGGCCCTCACCCTGCTCAGACACCAGTGGCTTCTGCCACTCACACTCCTCAGCTAGGTGCCCTGGCTAGGCTAGCATCTTGGGGCCCTGCCTCTCTGTGCTTTTCTGCCTCCAGGCTCTGTCCTCCACTAGGAATGGCCCTCCCTTCTTCTCTTCCTGTCCACAGCGTGCCTGTCCTGCCTAGCCCAAATGCCCCCTCTACAGTGTCTTTCCTGGCTCCCACACTACATATAAGCTCTGAGCTGTGGTGTTCTCTACGGGCACTATGTTTGGGTGCACGTCAATATCACACCTTCCAGGTCAGACACCTCTCTGTGTCCTGGGGGGTGCCTGGCATATGGTAGAGGCTCAGTAACCCAAAACAGACTGGCAGAGGCATGGAATGCAGGCTCCCAAGTGAGATGTGCTAGAGTTGGAAATCCAACTCTACCACTTAGGAGCTGTGTGACTTTGAGCAAATTAGTTAACCTCTCTGGACTTCGGCTCTCTCATCTGTCAAAGAACAGCACCTACTTCATAGTAAGGTAATCCATGAAAAGCACAGGGCTTAGAACAGAACAGTATCAGCTACTACTAATAATAGCAATAGTAGCAGTAATAATAATGGGTACTTTTGAAAGCAATAGTGCCTGTGTGACCCTGGGCAAGCCATCTCACTTCTCTGGTGAAAGTCAGTCACCTGGAGAGGATATTCTCCCAGCTTCCTCCACCCTCCTTCCCCCATTCTCTTGTACAGAGCAAGAAGGGCTGCCTGGAGGAGGCAGGCTGGCCCACAGGCAGGGCTACCTTGGAGCGGTACCACTCTTCGGCTTCATGCATGTTGCTGGACGCCATTGCCTCATACTGCGTGTGGATCTCTTTCAGGGCTGCGGTGAGGTCTGGCTTGGCCACGTCAAGCTCCACATGGACCTGCTGTCGGGCCAGCTGCTCCTGGAGTTCCCGAACCTCCTGACCAGGGTGAGAGAAGCGGTACCAGGGCTCAGGGTACAGGCCACAGCTGGGGTTCCCCACGCCATTGTGTCCTCTTCTGCCTGCCCCTCGGCCAGGAGTTCGAATGCTCTCTTGTCTCTTTCCGTCTCCCTTAGTGTCTTTCTGTTTGTCTTTCATTTCCTGTCTCTACCTGCCAATCTCTGTTTCTCTCCTCTCTCTGAGTGTCTCTCTCAGTCTCAGCTTCTCTGTCTCTGTCTCTCCCTCTCTCAGTTGCAATCTCTGTGTTGAGCTTTCCTCCCTCTGCCCTGGCCTCACCTCCTCGTGGATCTTCCTCAAGAACCGGATCTCCTCCTCCAGCGACTCAATCTTCCTCTCCAGATCCAGACGGGCCAGGGTGGCTTCATCTGCTTCCTGGAGTGGCAGGAGGGGTGAGGAGTAGAGGGCCACTGGGGCCCCAGGCTCCTTCTCCCCATTCCTCAGCCTTGCCTTACCCCTCCTTCTGGGGCAGTGGGGAGCAGCACATTGCTCTGGCGGGCTGAGCTTGGGGGCTGTGTTTGGGTGGGTGGCCATCAATCCTTTCCTCCCTCCCCTGCCCCTCCCCTCCACCTCCCTGACCTGTCTATAGGCAGCCAGGTTGTTCTCGGCTTCCAGCCTCAGGTTGGTTTCATCCTGGAGCCTGGAGTGGGGGGACACATTCCTGGGTCCAGGCTCTTCTGAGGACACTTGAATACCTGCCTCAGTCTCCCTTGAGGCAGCTGTCACAGAGACCACCCCCACCCAGGACCAGTAGAGCAGCAGGAGGATTAAGGGTTGGGGGGCCTTAGACAGAGGACTTGTCTGGAGGATGAGCAGATGTGGGCTTTTGCCTTAACTCATTACTAAGGTGCCTTATCAGGGTTGGTGCACCTGCTTCTGCTCACACAGGCGCATCCACAAGCATACACTCACTGTTGCACACACACACACACACACGCACATGTCCTCCTGCACTTGAAGGCACACATGCATGTCCTGTCAGCTCAGTGAAGCGCCATGCCCCTGGGGATTCCTCTGATCCCAGGTAACCACCTTTTGAAATGAATTTTATTATGACCACCGCTTCACAGCTGTGCAAGTCAAAGTAACTTGATGGGGGTCACAAGCTGGTGGCAGGCAGTCACCTGTGCTTTGCGCCCAGACCTGCCTGCTCTTTCCCTCACTTTCTTCACCCCAGAATCCAATCTCCCTCATGGACATCAACCTTCTCCGCTTCCAACTCCTCCTTTATATGGACACAGGCTCAGAATAGGTGAGCTCGCTGCCCACAGTCACAAAGCCCAGCCATGAATGAAACACAGGGGCCCCGCTGCTCCTGCACTGCTTTCCCCAGTAGGGAGGTGCTGAGGGGACCCTGGACTCCTGGCAGAAGGCATGCGGGCATCAGATCCCCGGGGCCCTGGGCCTGTTTCTGGTCCCTCCCATCATGTTGGGGGGCAAGGATAGTGCCCCATCAAGAGGTAGGGAGGCCCAGGGAGCAGGGAGGTTCGGCCCCTCCCTGAGACTTCTCGGGCACTCCTTCTTGGGGATTCAGCCCCTTCTGCTCACAAGGCCCCCCTTCCCCATCCCCTCCTCACTTCTGCCTCACAGTGGCCAGGTCCTGTGCCAGATTGTCCCTCTCAACCTCCAGCCGGGCGCTGTTGGCGGTGAGTTGATCGAGCCGCAGCCGCAGCTCTCGCAGCTCAGCCTGGTAGACGTCTGCCAGCTTGGTGGGCTCCTTGGCCCGCAGCTGGTTCAGCTCAGCAGCCAGCGCCTTGTTTTGCTGTTCCAGGAAGCGAACCTTCTCGATGTAGCTGGCAAAGCGGTCATTGAGCTCCATCATCTCTGCCCGCTCACTGGCCCGGGTCTCCTTGAAGCCAGCATTGAGTGCCCCAGCCAGGGAGAAATCCACCCGGGTCGGGAGTGGAGGGGGCATTCGAGCCAGGGAGAGGC
Task1_train_24773
This variant impacts the gene GFAP (glial fibrillary acidic protein) on Chromosome 17. Is the change likely to result in a pathogenic outcome?
Pathogenic; Alexander disease
CAGGGCCAGCTTGACATTGAGCAGGTCCTGGTACTCCTGCAAGTGGCGGGCCATCTCGTCCTTGAGGCTCTGCCCCTCTTCCTCCAGCCGCGCCAGCGCCTCCTGATAACTGGCCGCCTCCCGCACGTGCCGCTCCTCCTGCTCGCGCATCTGCCTCTCCAGGGACTCGTTCTGTGGGATGGAGCCGGCCGGTCCCGCGGAGCCCCGACCCGACTTGGGGAGGTTTCGAGGCCCGGCCCCCGGCCCCAGGCCCCGCCTCTAGCCCGGGGGTAACGTTCAGGCCCCGCCCTCGACCCAGGTCCTCGTCCCTGGCCCTTCTCCCCTGGCATCTCCTGGGGTGGCCGTCCCTGCTCCGCCCGTCCCCGTCCTGCCCTGGCCGCGCTCACCGTGCCGCGCAGAGACTCCAGGTCGCAGGTCAAGGACTGCAACTGGCGCCGGTAGTCGTTGGCTTCGTGCTTGGCCTGGCGGAGCAGCTCCGCGTTGCGGGCAGCAGCGTCTGTCAGGTCTGCAAACTAGGTGGGGGACACATATGGGGGGCTGTGTGGGCCCATGGGCAGGCACGGGCTCTGGGAAATCAGGGAGGTGAGCAGCACCCCAGTTAACCCCAGGACGTTGGCCCTGGCTGGGACTTTTCCCAACAACTGTGACCCATGGATGCGGGCAGGGTAGCGGGCTGCCAGACCTCAGCACCTAGCACAACACCTGGTCAGCAAGCGAATGAATGAACAGTGCCACAGAATCCAGAACCTTCCACACTGACAGCTGCATCTGCGGGACTGAACGCTGTCGTCTTAGGCGAGCGGAGGCCTGGGTGTTTTGTGTGTTTTTGTTTTTTTGTTTTTTTTGTTTTATTTTGAGACAGAGTCTTGCTCTTGTCGCCCAGGTTGGAAGTCAGTGGCACAATCCCGGGTCACTGCAACCTCTGCCTCCCAGGTTCAAGCAATTCTCCTGCCCCAGCCACCTGAGTAGCTGGGATTACAGGCATGCGCCACTACACCCGGCTGATTTTGTATTTTTAGTAGAGACGGGGTTTCACCATGTTGACCAGGCTAGTCTTGAACTGCTGACCTCAGGTGATCCGCATGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACCTCGCCTGGCCTCACCCTGGGTTCTAATAGCCCTTTCTCCCCTGCCTGCAGGGAGGTCCTCCCAGCCCCATCGGGCCCTCACCCTGCTCAGACACCAGTGGCTTCTGCCACTCACACTCCTCAGCTAGGTGCCCTGGCTAGGCTAGCATCTTGGGGCCCTGCCTCTCTGTGCTTTTCTGCCTCCAGGCTCTGTCCTCCACTAGGAATGGCCCTCCCTTCTTCTCTTCCTGTCCACAGCGTGCCTGTCCTGCCTAGCCCAAATGCCCCCTCTACAGTGTCTTTCCTGGCTCCCACACTACATATAAGCTCTGAGCTGTGGTGTTCTCTACGGGCACTATGTTTGGGTGCACGTCAATATCACACCTTCCAGGTCAGACACCTCTCTGTGTCCTGGGGGGTGCCTGGCATATGGTAGAGGCTCAGTAACCCAAAACAGACTGGCAGAGGCATGGAATGCAGGCTCCCAAGTGAGATGTGCTAGAGTTGGAAATCCAACTCTACCACTTAGGAGCTGTGTGACTTTGAGCAAATTAGTTAACCTCTCTGGACTTCGGCTCTCTCATCTGTCAAAGAACAGCACCTACTTCATAGTAAGGTAATCCATGAAAAGCACAGGGCTTAGAACAGAACAGTATCAGCTACTACTAATAATAGCAATAGTAGCAGTAATAATAATGGGTACTTTTGAAAGCAATAGTGCCTGTGTGACCCTGGGCAAGCCATCTCACTTCTCTGGTGAAAGTCAGTCACCTGGAGAGGATATTCTCCCAGCTTCCTCCACCCTCCTTCCCCCATTCTCTTGTACAGAGCAAGAAGGGCTGCCTGGAGGAGGCAGGCTGGCCCACAGGCAGGGCTACCTTGGAGCGGTACCACTCTTCGGCTTCATGCATGTTGCTGGACGCCATTGCCTCATACTGCGTGCGGATCTCTTTCAGGGCTGCGGTGAGGTCTGGCTTGGCCACGTCAAGCTCCACATGGACCTGCTGTCGGGCCAGCTGCTCCTGGAGTTCCCGAACCTCCTGACCAGGGTGAGAGAAGCGGTACCAGGGCTCAGGGTACAGGCCACAGCTGGGGTTCCCCACGCCATTGTGTCCTCTTCTGCCTGCCCCTCGGCCAGGAGTTCGAATGCTCTCTTGTCTCTTTCCGTCTCCCTTAGTGTCTTTCTGTTTGTCTTTCATTTCCTGTCTCTACCTGCCAATCTCTGTTTCTCTCCTCTCTCTGAGTGTCTCTCTCAGTCTCAGCTTCTCTGTCTCTGTCTCTCCCTCTCTCAGTTGCAATCTCTGTGTTGAGCTTTCCTCCCTCTGCCCTGGCCTCACCTCCTCGTGGATCTTCCTCAAGAACCGGATCTCCTCCTCCAGCGACTCAATCTTCCTCTCCAGATCCAGACGGGCCAGGGTGGCTTCATCTGCTTCCTGGAGTGGCAGGAGGGGTGAGGAGTAGAGGGCCACTGGGGCCCCAGGCTCCTTCTCCCCATTCCTCAGCCTTGCCTTACCCCTCCTTCTGGGGCAGTGGGGAGCAGCACATTGCTCTGGCGGGCTGAGCTTGGGGGCTGTGTTTGGGTGGGTGGCCATCAATCCTTTCCTCCCTCCCCTGCCCCTCCCCTCCACCTCCCTGACCTGTCTATAGGCAGCCAGGTTGTTCTCGGCTTCCAGCCTCAGGTTGGTTTCATCCTGGAGCCTGGAGTGGGGGGACACATTCCTGGGTCCAGGCTCTTCTGAGGACACTTGAATACCTGCCTCAGTCTCCCTTGAGGCAGCTGTCACAGAGACCACCCCCACCCAGGACCAGTAGAGCAGCAGGAGGATTAAGGGTTGGGGGGCCTTAGACAGAGGACTTGTCTGGAGGATGAGCAGATGTGGGCTTTTGCCTTAACTCATTACTAAGGTGCCTTATCAGGGTTGGTGCACCTGCTTCTGCTCACACAGGCGCATCCACAAGCATACACTCACTGTTGCACACACACACACACACACGCACATGTCCTCCTGCACTTGAAGGCACACATGCATGTCCTGTCAGCTCAGTGAAGCGCCATGCCCCTGGGGATTCCTCTGATCCCAGGTAACCACCTTTTGAAATGAATTTTATTATGACCACCGCTTCACAGCTGTGCAAGTCAAAGTAACTTGATGGGGGTCACAAGCTGGTGGCAGGCAGTCACCTGTGCTTTGCGCCCAGACCTGCCTGCTCTTTCCCTCACTTTCTTCACCCCAGAATCCAATCTCCCTCATGGACATCAACCTTCTCCGCTTCCAACTCCTCCTTTATATGGACACAGGCTCAGAATAGGTGAGCTCGCTGCCCACAGTCACAAAGCCCAGCCATGAATGAAACACAGGGGCCCCGCTGCTCCTGCACTGCTTTCCCCAGTAGGGAGGTGCTGAGGGGACCCTGGACTCCTGGCAGAAGGCATGCGGGCATCAGATCCCCGGGGCCCTGGGCCTGTTTCTGGTCCCTCCCATCATGTTGGGGGGCAAGGATAGTGCCCCATCAAGAGGTAGGGAGGCCCAGGGAGCAGGGAGGTTCGGCCCCTCCCTGAGACTTCTCGGGCACTCCTTCTTGGGGATTCAGCCCCTTCTGCTCACAAGGCCCCCCTTCCCCATCCCCTCCTCACTTCTGCCTCACAGTGGCCAGGTCCTGTGCCAGATTGTCCCTCTCAACCTCCAGCCGGGCGCTGTTGGCGGTGAGTTGATCGAGCCGCAGCCGCAGCTCTCGCAGCTCAGCCTGGTAGACGTCTGCCAGCTTGGTGGGCTCCTTGGCCCGCAGCTGGTTCAGCTCAGCAGCCAGCGCCTTGTTTTGCTGTTCCAGGAAGCGAACCTTCTCGATGTAGCTGGCAAAGCGGTCATTGAGCTCCATCATCTCTGCCCGCTCACTGGCCCGGGTCTCCTTGAAGCCAGCATTGAGTGCCCCAGCCAGGGAGAAATCCACCCGGGTCGGGAGTGGAGGGGGCATTCGAGCCAGGGAGAGGCG
CAGGGCCAGCTTGACATTGAGCAGGTCCTGGTACTCCTGCAAGTGGCGGGCCATCTCGTCCTTGAGGCTCTGCCCCTCTTCCTCCAGCCGCGCCAGCGCCTCCTGATAACTGGCCGCCTCCCGCACGTGCCGCTCCTCCTGCTCGCGCATCTGCCTCTCCAGGGACTCGTTCTGTGGGATGGAGCCGGCCGGTCCCGCGGAGCCCCGACCCGACTTGGGGAGGTTTCGAGGCCCGGCCCCCGGCCCCAGGCCCCGCCTCTAGCCCGGGGGTAACGTTCAGGCCCCGCCCTCGACCCAGGTCCTCGTCCCTGGCCCTTCTCCCCTGGCATCTCCTGGGGTGGCCGTCCCTGCTCCGCCCGTCCCCGTCCTGCCCTGGCCGCGCTCACCGTGCCGCGCAGAGACTCCAGGTCGCAGGTCAAGGACTGCAACTGGCGCCGGTAGTCGTTGGCTTCGTGCTTGGCCTGGCGGAGCAGCTCCGCGTTGCGGGCAGCAGCGTCTGTCAGGTCTGCAAACTAGGTGGGGGACACATATGGGGGGCTGTGTGGGCCCATGGGCAGGCACGGGCTCTGGGAAATCAGGGAGGTGAGCAGCACCCCAGTTAACCCCAGGACGTTGGCCCTGGCTGGGACTTTTCCCAACAACTGTGACCCATGGATGCGGGCAGGGTAGCGGGCTGCCAGACCTCAGCACCTAGCACAACACCTGGTCAGCAAGCGAATGAATGAACAGTGCCACAGAATCCAGAACCTTCCACACTGACAGCTGCATCTGCGGGACTGAACGCTGTCGTCTTAGGCGAGCGGAGGCCTGGGTGTTTTGTGTGTTTTTGTTTTTTTGTTTTTTTTGTTTTATTTTGAGACAGAGTCTTGCTCTTGTCGCCCAGGTTGGAAGTCAGTGGCACAATCCCGGGTCACTGCAACCTCTGCCTCCCAGGTTCAAGCAATTCTCCTGCCCCAGCCACCTGAGTAGCTGGGATTACAGGCATGCGCCACTACACCCGGCTGATTTTGTATTTTTAGTAGAGACGGGGTTTCACCATGTTGACCAGGCTAGTCTTGAACTGCTGACCTCAGGTGATCCGCATGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACCTCGCCTGGCCTCACCCTGGGTTCTAATAGCCCTTTCTCCCCTGCCTGCAGGGAGGTCCTCCCAGCCCCATCGGGCCCTCACCCTGCTCAGACACCAGTGGCTTCTGCCACTCACACTCCTCAGCTAGGTGCCCTGGCTAGGCTAGCATCTTGGGGCCCTGCCTCTCTGTGCTTTTCTGCCTCCAGGCTCTGTCCTCCACTAGGAATGGCCCTCCCTTCTTCTCTTCCTGTCCACAGCGTGCCTGTCCTGCCTAGCCCAAATGCCCCCTCTACAGTGTCTTTCCTGGCTCCCACACTACATATAAGCTCTGAGCTGTGGTGTTCTCTACGGGCACTATGTTTGGGTGCACGTCAATATCACACCTTCCAGGTCAGACACCTCTCTGTGTCCTGGGGGGTGCCTGGCATATGGTAGAGGCTCAGTAACCCAAAACAGACTGGCAGAGGCATGGAATGCAGGCTCCCAAGTGAGATGTGCTAGAGTTGGAAATCCAACTCTACCACTTAGGAGCTGTGTGACTTTGAGCAAATTAGTTAACCTCTCTGGACTTCGGCTCTCTCATCTGTCAAAGAACAGCACCTACTTCATAGTAAGGTAATCCATGAAAAGCACAGGGCTTAGAACAGAACAGTATCAGCTACTACTAATAATAGCAATAGTAGCAGTAATAATAATGGGTACTTTTGAAAGCAATAGTGCCTGTGTGACCCTGGGCAAGCCATCTCACTTCTCTGGTGAAAGTCAGTCACCTGGAGAGGATATTCTCCCAGCTTCCTCCACCCTCCTTCCCCCATTCTCTTGTACAGAGCAAGAAGGGCTGCCTGGAGGAGGCAGGCTGGCCCACAGGCAGGGCTACCTTGGAGCGGTACCACTCTTCGGCTTCATGCATGTTGCTGGACGCCATTGCCTCATACTGCGTGCAGATCTCTTTCAGGGCTGCGGTGAGGTCTGGCTTGGCCACGTCAAGCTCCACATGGACCTGCTGTCGGGCCAGCTGCTCCTGGAGTTCCCGAACCTCCTGACCAGGGTGAGAGAAGCGGTACCAGGGCTCAGGGTACAGGCCACAGCTGGGGTTCCCCACGCCATTGTGTCCTCTTCTGCCTGCCCCTCGGCCAGGAGTTCGAATGCTCTCTTGTCTCTTTCCGTCTCCCTTAGTGTCTTTCTGTTTGTCTTTCATTTCCTGTCTCTACCTGCCAATCTCTGTTTCTCTCCTCTCTCTGAGTGTCTCTCTCAGTCTCAGCTTCTCTGTCTCTGTCTCTCCCTCTCTCAGTTGCAATCTCTGTGTTGAGCTTTCCTCCCTCTGCCCTGGCCTCACCTCCTCGTGGATCTTCCTCAAGAACCGGATCTCCTCCTCCAGCGACTCAATCTTCCTCTCCAGATCCAGACGGGCCAGGGTGGCTTCATCTGCTTCCTGGAGTGGCAGGAGGGGTGAGGAGTAGAGGGCCACTGGGGCCCCAGGCTCCTTCTCCCCATTCCTCAGCCTTGCCTTACCCCTCCTTCTGGGGCAGTGGGGAGCAGCACATTGCTCTGGCGGGCTGAGCTTGGGGGCTGTGTTTGGGTGGGTGGCCATCAATCCTTTCCTCCCTCCCCTGCCCCTCCCCTCCACCTCCCTGACCTGTCTATAGGCAGCCAGGTTGTTCTCGGCTTCCAGCCTCAGGTTGGTTTCATCCTGGAGCCTGGAGTGGGGGGACACATTCCTGGGTCCAGGCTCTTCTGAGGACACTTGAATACCTGCCTCAGTCTCCCTTGAGGCAGCTGTCACAGAGACCACCCCCACCCAGGACCAGTAGAGCAGCAGGAGGATTAAGGGTTGGGGGGCCTTAGACAGAGGACTTGTCTGGAGGATGAGCAGATGTGGGCTTTTGCCTTAACTCATTACTAAGGTGCCTTATCAGGGTTGGTGCACCTGCTTCTGCTCACACAGGCGCATCCACAAGCATACACTCACTGTTGCACACACACACACACACACGCACATGTCCTCCTGCACTTGAAGGCACACATGCATGTCCTGTCAGCTCAGTGAAGCGCCATGCCCCTGGGGATTCCTCTGATCCCAGGTAACCACCTTTTGAAATGAATTTTATTATGACCACCGCTTCACAGCTGTGCAAGTCAAAGTAACTTGATGGGGGTCACAAGCTGGTGGCAGGCAGTCACCTGTGCTTTGCGCCCAGACCTGCCTGCTCTTTCCCTCACTTTCTTCACCCCAGAATCCAATCTCCCTCATGGACATCAACCTTCTCCGCTTCCAACTCCTCCTTTATATGGACACAGGCTCAGAATAGGTGAGCTCGCTGCCCACAGTCACAAAGCCCAGCCATGAATGAAACACAGGGGCCCCGCTGCTCCTGCACTGCTTTCCCCAGTAGGGAGGTGCTGAGGGGACCCTGGACTCCTGGCAGAAGGCATGCGGGCATCAGATCCCCGGGGCCCTGGGCCTGTTTCTGGTCCCTCCCATCATGTTGGGGGGCAAGGATAGTGCCCCATCAAGAGGTAGGGAGGCCCAGGGAGCAGGGAGGTTCGGCCCCTCCCTGAGACTTCTCGGGCACTCCTTCTTGGGGATTCAGCCCCTTCTGCTCACAAGGCCCCCCTTCCCCATCCCCTCCTCACTTCTGCCTCACAGTGGCCAGGTCCTGTGCCAGATTGTCCCTCTCAACCTCCAGCCGGGCGCTGTTGGCGGTGAGTTGATCGAGCCGCAGCCGCAGCTCTCGCAGCTCAGCCTGGTAGACGTCTGCCAGCTTGGTGGGCTCCTTGGCCCGCAGCTGGTTCAGCTCAGCAGCCAGCGCCTTGTTTTGCTGTTCCAGGAAGCGAACCTTCTCGATGTAGCTGGCAAAGCGGTCATTGAGCTCCATCATCTCTGCCCGCTCACTGGCCCGGGTCTCCTTGAAGCCAGCATTGAGTGCCCCAGCCAGGGAGAAATCCACCCGGGTCGGGAGTGGAGGGGGCATTCGAGCCAGGGAGAGGCG
Task1_train_24774
This sequence variant lies in GFAP (glial fibrillary acidic protein) on Chromosome 17. Is it clinically significant, and what condition might it cause if any?
Pathogenic; Alexander disease
TCCCAGCTTCCTCCACCCTCCTTCCCCCATTCTCTTGTACAGAGCAAGAAGGGCTGCCTGGAGGAGGCAGGCTGGCCCACAGGCAGGGCTACCTTGGAGCGGTACCACTCTTCGGCTTCATGCATGTTGCTGGACGCCATTGCCTCATACTGCGTGCGGATCTCTTTCAGGGCTGCGGTGAGGTCTGGCTTGGCCACGTCAAGCTCCACATGGACCTGCTGTCGGGCCAGCTGCTCCTGGAGTTCCCGAACCTCCTGACCAGGGTGAGAGAAGCGGTACCAGGGCTCAGGGTACAGGCCACAGCTGGGGTTCCCCACGCCATTGTGTCCTCTTCTGCCTGCCCCTCGGCCAGGAGTTCGAATGCTCTCTTGTCTCTTTCCGTCTCCCTTAGTGTCTTTCTGTTTGTCTTTCATTTCCTGTCTCTACCTGCCAATCTCTGTTTCTCTCCTCTCTCTGAGTGTCTCTCTCAGTCTCAGCTTCTCTGTCTCTGTCTCTCCCTCTCTCAGTTGCAATCTCTGTGTTGAGCTTTCCTCCCTCTGCCCTGGCCTCACCTCCTCGTGGATCTTCCTCAAGAACCGGATCTCCTCCTCCAGCGACTCAATCTTCCTCTCCAGATCCAGACGGGCCAGGGTGGCTTCATCTGCTTCCTGGAGTGGCAGGAGGGGTGAGGAGTAGAGGGCCACTGGGGCCCCAGGCTCCTTCTCCCCATTCCTCAGCCTTGCCTTACCCCTCCTTCTGGGGCAGTGGGGAGCAGCACATTGCTCTGGCGGGCTGAGCTTGGGGGCTGTGTTTGGGTGGGTGGCCATCAATCCTTTCCTCCCTCCCCTGCCCCTCCCCTCCACCTCCCTGACCTGTCTATAGGCAGCCAGGTTGTTCTCGGCTTCCAGCCTCAGGTTGGTTTCATCCTGGAGCCTGGAGTGGGGGGACACATTCCTGGGTCCAGGCTCTTCTGAGGACACTTGAATACCTGCCTCAGTCTCCCTTGAGGCAGCTGTCACAGAGACCACCCCCACCCAGGACCAGTAGAGCAGCAGGAGGATTAAGGGTTGGGGGGCCTTAGACAGAGGACTTGTCTGGAGGATGAGCAGATGTGGGCTTTTGCCTTAACTCATTACTAAGGTGCCTTATCAGGGTTGGTGCACCTGCTTCTGCTCACACAGGCGCATCCACAAGCATACACTCACTGTTGCACACACACACACACACACGCACATGTCCTCCTGCACTTGAAGGCACACATGCATGTCCTGTCAGCTCAGTGAAGCGCCATGCCCCTGGGGATTCCTCTGATCCCAGGTAACCACCTTTTGAAATGAATTTTATTATGACCACCGCTTCACAGCTGTGCAAGTCAAAGTAACTTGATGGGGGTCACAAGCTGGTGGCAGGCAGTCACCTGTGCTTTGCGCCCAGACCTGCCTGCTCTTTCCCTCACTTTCTTCACCCCAGAATCCAATCTCCCTCATGGACATCAACCTTCTCCGCTTCCAACTCCTCCTTTATATGGACACAGGCTCAGAATAGGTGAGCTCGCTGCCCACAGTCACAAAGCCCAGCCATGAATGAAACACAGGGGCCCCGCTGCTCCTGCACTGCTTTCCCCAGTAGGGAGGTGCTGAGGGGACCCTGGACTCCTGGCAGAAGGCATGCGGGCATCAGATCCCCGGGGCCCTGGGCCTGTTTCTGGTCCCTCCCATCATGTTGGGGGGCAAGGATAGTGCCCCATCAAGAGGTAGGGAGGCCCAGGGAGCAGGGAGGTTCGGCCCCTCCCTGAGACTTCTCGGGCACTCCTTCTTGGGGATTCAGCCCCTTCTGCTCACAAGGCCCCCCTTCCCCATCCCCTCCTCACTTCTGCCTCACAGTGGCCAGGTCCTGTGCCAGATTGTCCCTCTCAACCTCCAGCCGGGCGCTGTTGGCGGTGAGTTGATCGAGCCGCAGCCGCAGCTCTCGCAGCTCAGCCTGGTAGACGTCTGCCAGCTTGGTGGGCTCCTTGGCCCGCAGCTGGTTCAGCTCAGCAGCCAGCGCCTTGTTTTGCTGTTCCAGGAAGCGAACCTTCTCGATGTAGCTGGCAAAGCGGTCATTGAGCTCCATCATCTCTGCCCGCTCACTGGCCCGGGTCTCCTTGAAGCCAGCATTGAGTGCCCCAGCCAGGGAGAAATCCACCCGGGTCGGGAGTGGAGGGGGCATTCGAGCCAGGGAGAGGCGGGTGCCAGGACCCAGACGGCGGCCAGGAGCCAGGCCCCCCACCATCATCTCCCCTGAGGAGACGTAGGAGCGGCGAGCAGCGGAGGTGATGCGTCTCCTCTCCATCCTGCTCTGGCTCTGCTCGCTCCTGGGATGCGAGGGCTTTATGAAGGAGTGGGCTAGACTGGCGATGCCCGGGTGCCCCTGGCAACACCCCCTGGCATAGCCTGAGGGGGTGGGGTTGGGCCGCAGCCCAGCTATGGGGAGAGCTCCCCTCACCCCACTGAGGTCACTGTGCCCAGAGGCAGAGCTTCCTGGGCACGCCAACTCCTGCATGAGGCAGGTGGTACCTGGAGCCAGACCATGGGTCTGGGGCCCTGACCGCTGAAGCAAGAGGACCCTCTCTCTAGGAAGGTGGGTCAAGAAAGGGTTGGTTGGACCATGATGAATACTTACAATTATTATGCATCAATTAAAAAGGAAGGAAAGGGCTGAGTGGGGTGGCTCATGCTTGTAATCCCAGCACTTTGGGAGGCTGAGGCTGGAGGATTGCTTGAGCCCAGTAGGTTGAGGCTGCAGTGAGCTGTGTTTGCGCCACTCCAGCCTGGGCAACAGAGAGAGACCTTGTCTCACAAAAAAAAAAAAAAAAAAGGGAAGGAAGGGCTGTACCAGATGACCTCTGACCTGCTTTCCAACTTTTTGATTTCATAACCCAGGCATTATCTCACTCAGCTGTAAGTGCCTGCAAGGTGCTGGGAATTTGGCGAAGAATGAACCTGTTCTGTACCCTCAAGGGCCACCTCATTTCCTACTAGGCCTCATTCCCAGCAGACTCCTGGAGTCCTTCCCTTGAACACAGATGTCCCACATTCCTGCTCTCTGCCCATTCATTCCCTGGAGTTCTGGGGCTGGGGGCTGGGATTGGACACCAGCCCTTTGTCTAAGGGTCAATCATGGCCTCTATGTGGCAGTGGAGGTCCTGATAGGGCAAGAGGGGGCCGGCACTCTCTTGCCTTATCAGGACTTTAGCCCCTGGATCTGTCCCTCCAGGTCACCCCTTCCTTGTCTGGCCTCCCTGTGCCTCTCTCCCAGAGACCAGGCCTTGACAGCTCCACAAAGCCGTTACACATGAGCTGGCTGTGCTGGCTCGTCTTTATTCCTGCAGCGCCCCGTTTCCCTGGCCACCCCTCCGTCTCCCACTGGAGATTTATTTCCTCGAGTTCCCACACATCAGCCTGGAGAGATGGGAAGAACCTCTGGGGATGGATGGGTTTGGAAACGCTGGAGCCACTGGGCCCAACTAGGAGCCTGAGACCTGGGCCCTGTTGTCCCTGGAGACTTCAGGTCCATCTACGCCCTCCACTCTGGTCCCACAGGGTCAGAACCCTGCCCAGTCCCCTCACCCATTTGTGTCCTTGGACTTCTGGGAAGCAGACAGCCCTCCTCTCCCCCCCTGCCACCCACTGTCCATGCCTGGGCATCCCCTGATCCCCTTTCCTGGGCACAGGCTGAATAGAGCCTTGTTCTCCACCGCCGGTGGCGCCACACAGCAAGGGCAGCCCCTAGGGGGCTGTGCTGCTTTTATCCCAAGATGCCAGGCTGTCAGGCTGGGGTGCAATGCAAGCCCCCTGCTCAATGGGCTTCTCGGAAGGCATTTGAGGGGGGCTGGGGTGCGGCGGGAAGCAGGCACTGTGCCCACCCCGAACATTGTGTCTGTGCCAAGGTGAGTCATTCACTGGGCATGAAGAGGAGGCCCTGGGGGGCGGCCAGCCCAATGCTGCCAGGTCTGCTTGCAGACAAGGCCTGGCTGTCTGCCTCCTCCCCAGCTCACAGAGCCAGCTCAGGCCCCCGAGCCTCTGTCAGAGCAGCGTCCCCTACTCCACACCAGGATATGTTCTTTTTTTTTTTTTTT
TCCCAGCTTCCTCCACCCTCCTTCCCCCATTCTCTTGTACAGAGCAAGAAGGGCTGCCTGGAGGAGGCAGGCTGGCCCACAGGCAGGGCTACCTTGGAGCGGTACCACTCTTCGGCTTCATGCATGTTGCTGGACGCCATTGCCTCATACTGCGTGCGGATCTCTTTCAGGGCTGCGGTGAGGTCTGGCTTGGCCACGTCAAGCTCCACATGGACCTGCTGTCGGGCCAGCTGCTCCTGGAGTTCCCGAACCTCCTGACCAGGGTGAGAGAAGCGGTACCAGGGCTCAGGGTACAGGCCACAGCTGGGGTTCCCCACGCCATTGTGTCCTCTTCTGCCTGCCCCTCGGCCAGGAGTTCGAATGCTCTCTTGTCTCTTTCCGTCTCCCTTAGTGTCTTTCTGTTTGTCTTTCATTTCCTGTCTCTACCTGCCAATCTCTGTTTCTCTCCTCTCTCTGAGTGTCTCTCTCAGTCTCAGCTTCTCTGTCTCTGTCTCTCCCTCTCTCAGTTGCAATCTCTGTGTTGAGCTTTCCTCCCTCTGCCCTGGCCTCACCTCCTCGTGGATCTTCCTCAAGAACCGGATCTCCTCCTCCAGCGACTCAATCTTCCTCTCCAGATCCAGACGGGCCAGGGTGGCTTCATCTGCTTCCTGGAGTGGCAGGAGGGGTGAGGAGTAGAGGGCCACTGGGGCCCCAGGCTCCTTCTCCCCATTCCTCAGCCTTGCCTTACCCCTCCTTCTGGGGCAGTGGGGAGCAGCACATTGCTCTGGCGGGCTGAGCTTGGGGGCTGTGTTTGGGTGGGTGGCCATCAATCCTTTCCTCCCTCCCCTGCCCCTCCCCTCCACCTCCCTGACCTGTCTATAGGCAGCCAGGTTGTTCTCGGCTTCCAGCCTCAGGTTGGTTTCATCCTGGAGCCTGGAGTGGGGGGACACATTCCTGGGTCCAGGCTCTTCTGAGGACACTTGAATACCTGCCTCAGTCTCCCTTGAGGCAGCTGTCACAGAGACCACCCCCACCCAGGACCAGTAGAGCAGCAGGAGGATTAAGGGTTGGGGGGCCTTAGACAGAGGACTTGTCTGGAGGATGAGCAGATGTGGGCTTTTGCCTTAACTCATTACTAAGGTGCCTTATCAGGGTTGGTGCACCTGCTTCTGCTCACACAGGCGCATCCACAAGCATACACTCACTGTTGCACACACACACACACACACGCACATGTCCTCCTGCACTTGAAGGCACACATGCATGTCCTGTCAGCTCAGTGAAGCGCCATGCCCCTGGGGATTCCTCTGATCCCAGGTAACCACCTTTTGAAATGAATTTTATTATGACCACCGCTTCACAGCTGTGCAAGTCAAAGTAACTTGATGGGGGTCACAAGCTGGTGGCAGGCAGTCACCTGTGCTTTGCGCCCAGACCTGCCTGCTCTTTCCCTCACTTTCTTCACCCCAGAATCCAATCTCCCTCATGGACATCAACCTTCTCCGCTTCCAACTCCTCCTTTATATGGACACAGGCTCAGAATAGGTGAGCTCGCTGCCCACAGTCACAAAGCCCAGCCATGAATGAAACACAGGGGCCCCGCTGCTCCTGCACTGCTTTCCCCAGTAGGGAGGTGCTGAGGGGACCCTGGACTCCTGGCAGAAGGCATGCGGGCATCAGATCCCCGGGGCCCTGGGCCTGTTTCTGGTCCCTCCCATCATGTTGGGGGGCAAGGATAGTGCCCCATCAAGAGGTAGGGAGGCCCAGGGAGCAGGGAGGTTCGGCCCCTCCCTGAGACTTCTCGGGCACTCCTTCTTGGGGATTCAGCCCCTTCTGCTCACAAGGCCCCCCTTCCCCATCCCCTCCTCACTTCTGCCTCACAGTGGCCAGGTCCTGTGCCAGATTGTCCCTCTCAACCTCCAGCCGGGCGCTGTTGGCGGTGAGTTGATCGAGCCGCAGCCGCAGCTCTCGCAGCTCAGCCTGGTAGACGTCTGCCAGCTTGGTGGGCTCCTTGGCCCGCAGCTGGTTCAGCTCAGCAGCCAGCGCCTTGTTTTGCTGTTCCAGGAAGCAAACCTTCTCGATGTAGCTGGCAAAGCGGTCATTGAGCTCCATCATCTCTGCCCGCTCACTGGCCCGGGTCTCCTTGAAGCCAGCATTGAGTGCCCCAGCCAGGGAGAAATCCACCCGGGTCGGGAGTGGAGGGGGCATTCGAGCCAGGGAGAGGCGGGTGCCAGGACCCAGACGGCGGCCAGGAGCCAGGCCCCCCACCATCATCTCCCCTGAGGAGACGTAGGAGCGGCGAGCAGCGGAGGTGATGCGTCTCCTCTCCATCCTGCTCTGGCTCTGCTCGCTCCTGGGATGCGAGGGCTTTATGAAGGAGTGGGCTAGACTGGCGATGCCCGGGTGCCCCTGGCAACACCCCCTGGCATAGCCTGAGGGGGTGGGGTTGGGCCGCAGCCCAGCTATGGGGAGAGCTCCCCTCACCCCACTGAGGTCACTGTGCCCAGAGGCAGAGCTTCCTGGGCACGCCAACTCCTGCATGAGGCAGGTGGTACCTGGAGCCAGACCATGGGTCTGGGGCCCTGACCGCTGAAGCAAGAGGACCCTCTCTCTAGGAAGGTGGGTCAAGAAAGGGTTGGTTGGACCATGATGAATACTTACAATTATTATGCATCAATTAAAAAGGAAGGAAAGGGCTGAGTGGGGTGGCTCATGCTTGTAATCCCAGCACTTTGGGAGGCTGAGGCTGGAGGATTGCTTGAGCCCAGTAGGTTGAGGCTGCAGTGAGCTGTGTTTGCGCCACTCCAGCCTGGGCAACAGAGAGAGACCTTGTCTCACAAAAAAAAAAAAAAAAAAGGGAAGGAAGGGCTGTACCAGATGACCTCTGACCTGCTTTCCAACTTTTTGATTTCATAACCCAGGCATTATCTCACTCAGCTGTAAGTGCCTGCAAGGTGCTGGGAATTTGGCGAAGAATGAACCTGTTCTGTACCCTCAAGGGCCACCTCATTTCCTACTAGGCCTCATTCCCAGCAGACTCCTGGAGTCCTTCCCTTGAACACAGATGTCCCACATTCCTGCTCTCTGCCCATTCATTCCCTGGAGTTCTGGGGCTGGGGGCTGGGATTGGACACCAGCCCTTTGTCTAAGGGTCAATCATGGCCTCTATGTGGCAGTGGAGGTCCTGATAGGGCAAGAGGGGGCCGGCACTCTCTTGCCTTATCAGGACTTTAGCCCCTGGATCTGTCCCTCCAGGTCACCCCTTCCTTGTCTGGCCTCCCTGTGCCTCTCTCCCAGAGACCAGGCCTTGACAGCTCCACAAAGCCGTTACACATGAGCTGGCTGTGCTGGCTCGTCTTTATTCCTGCAGCGCCCCGTTTCCCTGGCCACCCCTCCGTCTCCCACTGGAGATTTATTTCCTCGAGTTCCCACACATCAGCCTGGAGAGATGGGAAGAACCTCTGGGGATGGATGGGTTTGGAAACGCTGGAGCCACTGGGCCCAACTAGGAGCCTGAGACCTGGGCCCTGTTGTCCCTGGAGACTTCAGGTCCATCTACGCCCTCCACTCTGGTCCCACAGGGTCAGAACCCTGCCCAGTCCCCTCACCCATTTGTGTCCTTGGACTTCTGGGAAGCAGACAGCCCTCCTCTCCCCCCCTGCCACCCACTGTCCATGCCTGGGCATCCCCTGATCCCCTTTCCTGGGCACAGGCTGAATAGAGCCTTGTTCTCCACCGCCGGTGGCGCCACACAGCAAGGGCAGCCCCTAGGGGGCTGTGCTGCTTTTATCCCAAGATGCCAGGCTGTCAGGCTGGGGTGCAATGCAAGCCCCCTGCTCAATGGGCTTCTCGGAAGGCATTTGAGGGGGGCTGGGGTGCGGCGGGAAGCAGGCACTGTGCCCACCCCGAACATTGTGTCTGTGCCAAGGTGAGTCATTCACTGGGCATGAAGAGGAGGCCCTGGGGGGCGGCCAGCCCAATGCTGCCAGGTCTGCTTGCAGACAAGGCCTGGCTGTCTGCCTCCTCCCCAGCTCACAGAGCCAGCTCAGGCCCCCGAGCCTCTGTCAGAGCAGCGTCCCCTACTCCACACCAGGATATGTTCTTTTTTTTTTTTTTT
Task1_train_24775
With a mutation on Chromosome 17 in gene GFAP (glial fibrillary acidic protein), classify this variant as benign or pathogenic. Include the disease if it's pathogenic.
Pathogenic; Alexander disease
TCCCAGCTTCCTCCACCCTCCTTCCCCCATTCTCTTGTACAGAGCAAGAAGGGCTGCCTGGAGGAGGCAGGCTGGCCCACAGGCAGGGCTACCTTGGAGCGGTACCACTCTTCGGCTTCATGCATGTTGCTGGACGCCATTGCCTCATACTGCGTGCGGATCTCTTTCAGGGCTGCGGTGAGGTCTGGCTTGGCCACGTCAAGCTCCACATGGACCTGCTGTCGGGCCAGCTGCTCCTGGAGTTCCCGAACCTCCTGACCAGGGTGAGAGAAGCGGTACCAGGGCTCAGGGTACAGGCCACAGCTGGGGTTCCCCACGCCATTGTGTCCTCTTCTGCCTGCCCCTCGGCCAGGAGTTCGAATGCTCTCTTGTCTCTTTCCGTCTCCCTTAGTGTCTTTCTGTTTGTCTTTCATTTCCTGTCTCTACCTGCCAATCTCTGTTTCTCTCCTCTCTCTGAGTGTCTCTCTCAGTCTCAGCTTCTCTGTCTCTGTCTCTCCCTCTCTCAGTTGCAATCTCTGTGTTGAGCTTTCCTCCCTCTGCCCTGGCCTCACCTCCTCGTGGATCTTCCTCAAGAACCGGATCTCCTCCTCCAGCGACTCAATCTTCCTCTCCAGATCCAGACGGGCCAGGGTGGCTTCATCTGCTTCCTGGAGTGGCAGGAGGGGTGAGGAGTAGAGGGCCACTGGGGCCCCAGGCTCCTTCTCCCCATTCCTCAGCCTTGCCTTACCCCTCCTTCTGGGGCAGTGGGGAGCAGCACATTGCTCTGGCGGGCTGAGCTTGGGGGCTGTGTTTGGGTGGGTGGCCATCAATCCTTTCCTCCCTCCCCTGCCCCTCCCCTCCACCTCCCTGACCTGTCTATAGGCAGCCAGGTTGTTCTCGGCTTCCAGCCTCAGGTTGGTTTCATCCTGGAGCCTGGAGTGGGGGGACACATTCCTGGGTCCAGGCTCTTCTGAGGACACTTGAATACCTGCCTCAGTCTCCCTTGAGGCAGCTGTCACAGAGACCACCCCCACCCAGGACCAGTAGAGCAGCAGGAGGATTAAGGGTTGGGGGGCCTTAGACAGAGGACTTGTCTGGAGGATGAGCAGATGTGGGCTTTTGCCTTAACTCATTACTAAGGTGCCTTATCAGGGTTGGTGCACCTGCTTCTGCTCACACAGGCGCATCCACAAGCATACACTCACTGTTGCACACACACACACACACACGCACATGTCCTCCTGCACTTGAAGGCACACATGCATGTCCTGTCAGCTCAGTGAAGCGCCATGCCCCTGGGGATTCCTCTGATCCCAGGTAACCACCTTTTGAAATGAATTTTATTATGACCACCGCTTCACAGCTGTGCAAGTCAAAGTAACTTGATGGGGGTCACAAGCTGGTGGCAGGCAGTCACCTGTGCTTTGCGCCCAGACCTGCCTGCTCTTTCCCTCACTTTCTTCACCCCAGAATCCAATCTCCCTCATGGACATCAACCTTCTCCGCTTCCAACTCCTCCTTTATATGGACACAGGCTCAGAATAGGTGAGCTCGCTGCCCACAGTCACAAAGCCCAGCCATGAATGAAACACAGGGGCCCCGCTGCTCCTGCACTGCTTTCCCCAGTAGGGAGGTGCTGAGGGGACCCTGGACTCCTGGCAGAAGGCATGCGGGCATCAGATCCCCGGGGCCCTGGGCCTGTTTCTGGTCCCTCCCATCATGTTGGGGGGCAAGGATAGTGCCCCATCAAGAGGTAGGGAGGCCCAGGGAGCAGGGAGGTTCGGCCCCTCCCTGAGACTTCTCGGGCACTCCTTCTTGGGGATTCAGCCCCTTCTGCTCACAAGGCCCCCCTTCCCCATCCCCTCCTCACTTCTGCCTCACAGTGGCCAGGTCCTGTGCCAGATTGTCCCTCTCAACCTCCAGCCGGGCGCTGTTGGCGGTGAGTTGATCGAGCCGCAGCCGCAGCTCTCGCAGCTCAGCCTGGTAGACGTCTGCCAGCTTGGTGGGCTCCTTGGCCCGCAGCTGGTTCAGCTCAGCAGCCAGCGCCTTGTTTTGCTGTTCCAGGAAGCGAACCTTCTCGATGTAGCTGGCAAAGCGGTCATTGAGCTCCATCATCTCTGCCCGCTCACTGGCCCGGGTCTCCTTGAAGCCAGCATTGAGTGCCCCAGCCAGGGAGAAATCCACCCGGGTCGGGAGTGGAGGGGGCATTCGAGCCAGGGAGAGGCGGGTGCCAGGACCCAGACGGCGGCCAGGAGCCAGGCCCCCCACCATCATCTCCCCTGAGGAGACGTAGGAGCGGCGAGCAGCGGAGGTGATGCGTCTCCTCTCCATCCTGCTCTGGCTCTGCTCGCTCCTGGGATGCGAGGGCTTTATGAAGGAGTGGGCTAGACTGGCGATGCCCGGGTGCCCCTGGCAACACCCCCTGGCATAGCCTGAGGGGGTGGGGTTGGGCCGCAGCCCAGCTATGGGGAGAGCTCCCCTCACCCCACTGAGGTCACTGTGCCCAGAGGCAGAGCTTCCTGGGCACGCCAACTCCTGCATGAGGCAGGTGGTACCTGGAGCCAGACCATGGGTCTGGGGCCCTGACCGCTGAAGCAAGAGGACCCTCTCTCTAGGAAGGTGGGTCAAGAAAGGGTTGGTTGGACCATGATGAATACTTACAATTATTATGCATCAATTAAAAAGGAAGGAAAGGGCTGAGTGGGGTGGCTCATGCTTGTAATCCCAGCACTTTGGGAGGCTGAGGCTGGAGGATTGCTTGAGCCCAGTAGGTTGAGGCTGCAGTGAGCTGTGTTTGCGCCACTCCAGCCTGGGCAACAGAGAGAGACCTTGTCTCACAAAAAAAAAAAAAAAAAAGGGAAGGAAGGGCTGTACCAGATGACCTCTGACCTGCTTTCCAACTTTTTGATTTCATAACCCAGGCATTATCTCACTCAGCTGTAAGTGCCTGCAAGGTGCTGGGAATTTGGCGAAGAATGAACCTGTTCTGTACCCTCAAGGGCCACCTCATTTCCTACTAGGCCTCATTCCCAGCAGACTCCTGGAGTCCTTCCCTTGAACACAGATGTCCCACATTCCTGCTCTCTGCCCATTCATTCCCTGGAGTTCTGGGGCTGGGGGCTGGGATTGGACACCAGCCCTTTGTCTAAGGGTCAATCATGGCCTCTATGTGGCAGTGGAGGTCCTGATAGGGCAAGAGGGGGCCGGCACTCTCTTGCCTTATCAGGACTTTAGCCCCTGGATCTGTCCCTCCAGGTCACCCCTTCCTTGTCTGGCCTCCCTGTGCCTCTCTCCCAGAGACCAGGCCTTGACAGCTCCACAAAGCCGTTACACATGAGCTGGCTGTGCTGGCTCGTCTTTATTCCTGCAGCGCCCCGTTTCCCTGGCCACCCCTCCGTCTCCCACTGGAGATTTATTTCCTCGAGTTCCCACACATCAGCCTGGAGAGATGGGAAGAACCTCTGGGGATGGATGGGTTTGGAAACGCTGGAGCCACTGGGCCCAACTAGGAGCCTGAGACCTGGGCCCTGTTGTCCCTGGAGACTTCAGGTCCATCTACGCCCTCCACTCTGGTCCCACAGGGTCAGAACCCTGCCCAGTCCCCTCACCCATTTGTGTCCTTGGACTTCTGGGAAGCAGACAGCCCTCCTCTCCCCCCCTGCCACCCACTGTCCATGCCTGGGCATCCCCTGATCCCCTTTCCTGGGCACAGGCTGAATAGAGCCTTGTTCTCCACCGCCGGTGGCGCCACACAGCAAGGGCAGCCCCTAGGGGGCTGTGCTGCTTTTATCCCAAGATGCCAGGCTGTCAGGCTGGGGTGCAATGCAAGCCCCCTGCTCAATGGGCTTCTCGGAAGGCATTTGAGGGGGGCTGGGGTGCGGCGGGAAGCAGGCACTGTGCCCACCCCGAACATTGTGTCTGTGCCAAGGTGAGTCATTCACTGGGCATGAAGAGGAGGCCCTGGGGGGCGGCCAGCCCAATGCTGCCAGGTCTGCTTGCAGACAAGGCCTGGCTGTCTGCCTCCTCCCCAGCTCACAGAGCCAGCTCAGGCCCCCGAGCCTCTGTCAGAGCAGCGTCCCCTACTCCACACCAGGATATGTTCTTTTTTTTTTTTTTT
TCCCAGCTTCCTCCACCCTCCTTCCCCCATTCTCTTGTACAGAGCAAGAAGGGCTGCCTGGAGGAGGCAGGCTGGCCCACAGGCAGGGCTACCTTGGAGCGGTACCACTCTTCGGCTTCATGCATGTTGCTGGACGCCATTGCCTCATACTGCGTGCGGATCTCTTTCAGGGCTGCGGTGAGGTCTGGCTTGGCCACGTCAAGCTCCACATGGACCTGCTGTCGGGCCAGCTGCTCCTGGAGTTCCCGAACCTCCTGACCAGGGTGAGAGAAGCGGTACCAGGGCTCAGGGTACAGGCCACAGCTGGGGTTCCCCACGCCATTGTGTCCTCTTCTGCCTGCCCCTCGGCCAGGAGTTCGAATGCTCTCTTGTCTCTTTCCGTCTCCCTTAGTGTCTTTCTGTTTGTCTTTCATTTCCTGTCTCTACCTGCCAATCTCTGTTTCTCTCCTCTCTCTGAGTGTCTCTCTCAGTCTCAGCTTCTCTGTCTCTGTCTCTCCCTCTCTCAGTTGCAATCTCTGTGTTGAGCTTTCCTCCCTCTGCCCTGGCCTCACCTCCTCGTGGATCTTCCTCAAGAACCGGATCTCCTCCTCCAGCGACTCAATCTTCCTCTCCAGATCCAGACGGGCCAGGGTGGCTTCATCTGCTTCCTGGAGTGGCAGGAGGGGTGAGGAGTAGAGGGCCACTGGGGCCCCAGGCTCCTTCTCCCCATTCCTCAGCCTTGCCTTACCCCTCCTTCTGGGGCAGTGGGGAGCAGCACATTGCTCTGGCGGGCTGAGCTTGGGGGCTGTGTTTGGGTGGGTGGCCATCAATCCTTTCCTCCCTCCCCTGCCCCTCCCCTCCACCTCCCTGACCTGTCTATAGGCAGCCAGGTTGTTCTCGGCTTCCAGCCTCAGGTTGGTTTCATCCTGGAGCCTGGAGTGGGGGGACACATTCCTGGGTCCAGGCTCTTCTGAGGACACTTGAATACCTGCCTCAGTCTCCCTTGAGGCAGCTGTCACAGAGACCACCCCCACCCAGGACCAGTAGAGCAGCAGGAGGATTAAGGGTTGGGGGGCCTTAGACAGAGGACTTGTCTGGAGGATGAGCAGATGTGGGCTTTTGCCTTAACTCATTACTAAGGTGCCTTATCAGGGTTGGTGCACCTGCTTCTGCTCACACAGGCGCATCCACAAGCATACACTCACTGTTGCACACACACACACACACACGCACATGTCCTCCTGCACTTGAAGGCACACATGCATGTCCTGTCAGCTCAGTGAAGCGCCATGCCCCTGGGGATTCCTCTGATCCCAGGTAACCACCTTTTGAAATGAATTTTATTATGACCACCGCTTCACAGCTGTGCAAGTCAAAGTAACTTGATGGGGGTCACAAGCTGGTGGCAGGCAGTCACCTGTGCTTTGCGCCCAGACCTGCCTGCTCTTTCCCTCACTTTCTTCACCCCAGAATCCAATCTCCCTCATGGACATCAACCTTCTCCGCTTCCAACTCCTCCTTTATATGGACACAGGCTCAGAATAGGTGAGCTCGCTGCCCACAGTCACAAAGCCCAGCCATGAATGAAACACAGGGGCCCCGCTGCTCCTGCACTGCTTTCCCCAGTAGGGAGGTGCTGAGGGGACCCTGGACTCCTGGCAGAAGGCATGCGGGCATCAGATCCCCGGGGCCCTGGGCCTGTTTCTGGTCCCTCCCATCATGTTGGGGGGCAAGGATAGTGCCCCATCAAGAGGTAGGGAGGCCCAGGGAGCAGGGAGGTTCGGCCCCTCCCTGAGACTTCTCGGGCACTCCTTCTTGGGGATTCAGCCCCTTCTGCTCACAAGGCCCCCCTTCCCCATCCCCTCCTCACTTCTGCCTCACAGTGGCCAGGTCCTGTGCCAGATTGTCCCTCTCAACCTCCAGCCGGGCGCTGTTGGCGGTGAGTTGATCGAGCCGCAGCCGCAGCTCTCGCAGCTCAGCCTGGTAGACGTCTGCCAGCTTGGTGGGCTCCTTGGCCCGCAGCTGGTTCAGCTCAGCAGCCAGCGCCTTGTTTTGCTGTTCCAGGAAGCTAACCTTCTCGATGTAGCTGGCAAAGCGGTCATTGAGCTCCATCATCTCTGCCCGCTCACTGGCCCGGGTCTCCTTGAAGCCAGCATTGAGTGCCCCAGCCAGGGAGAAATCCACCCGGGTCGGGAGTGGAGGGGGCATTCGAGCCAGGGAGAGGCGGGTGCCAGGACCCAGACGGCGGCCAGGAGCCAGGCCCCCCACCATCATCTCCCCTGAGGAGACGTAGGAGCGGCGAGCAGCGGAGGTGATGCGTCTCCTCTCCATCCTGCTCTGGCTCTGCTCGCTCCTGGGATGCGAGGGCTTTATGAAGGAGTGGGCTAGACTGGCGATGCCCGGGTGCCCCTGGCAACACCCCCTGGCATAGCCTGAGGGGGTGGGGTTGGGCCGCAGCCCAGCTATGGGGAGAGCTCCCCTCACCCCACTGAGGTCACTGTGCCCAGAGGCAGAGCTTCCTGGGCACGCCAACTCCTGCATGAGGCAGGTGGTACCTGGAGCCAGACCATGGGTCTGGGGCCCTGACCGCTGAAGCAAGAGGACCCTCTCTCTAGGAAGGTGGGTCAAGAAAGGGTTGGTTGGACCATGATGAATACTTACAATTATTATGCATCAATTAAAAAGGAAGGAAAGGGCTGAGTGGGGTGGCTCATGCTTGTAATCCCAGCACTTTGGGAGGCTGAGGCTGGAGGATTGCTTGAGCCCAGTAGGTTGAGGCTGCAGTGAGCTGTGTTTGCGCCACTCCAGCCTGGGCAACAGAGAGAGACCTTGTCTCACAAAAAAAAAAAAAAAAAAGGGAAGGAAGGGCTGTACCAGATGACCTCTGACCTGCTTTCCAACTTTTTGATTTCATAACCCAGGCATTATCTCACTCAGCTGTAAGTGCCTGCAAGGTGCTGGGAATTTGGCGAAGAATGAACCTGTTCTGTACCCTCAAGGGCCACCTCATTTCCTACTAGGCCTCATTCCCAGCAGACTCCTGGAGTCCTTCCCTTGAACACAGATGTCCCACATTCCTGCTCTCTGCCCATTCATTCCCTGGAGTTCTGGGGCTGGGGGCTGGGATTGGACACCAGCCCTTTGTCTAAGGGTCAATCATGGCCTCTATGTGGCAGTGGAGGTCCTGATAGGGCAAGAGGGGGCCGGCACTCTCTTGCCTTATCAGGACTTTAGCCCCTGGATCTGTCCCTCCAGGTCACCCCTTCCTTGTCTGGCCTCCCTGTGCCTCTCTCCCAGAGACCAGGCCTTGACAGCTCCACAAAGCCGTTACACATGAGCTGGCTGTGCTGGCTCGTCTTTATTCCTGCAGCGCCCCGTTTCCCTGGCCACCCCTCCGTCTCCCACTGGAGATTTATTTCCTCGAGTTCCCACACATCAGCCTGGAGAGATGGGAAGAACCTCTGGGGATGGATGGGTTTGGAAACGCTGGAGCCACTGGGCCCAACTAGGAGCCTGAGACCTGGGCCCTGTTGTCCCTGGAGACTTCAGGTCCATCTACGCCCTCCACTCTGGTCCCACAGGGTCAGAACCCTGCCCAGTCCCCTCACCCATTTGTGTCCTTGGACTTCTGGGAAGCAGACAGCCCTCCTCTCCCCCCCTGCCACCCACTGTCCATGCCTGGGCATCCCCTGATCCCCTTTCCTGGGCACAGGCTGAATAGAGCCTTGTTCTCCACCGCCGGTGGCGCCACACAGCAAGGGCAGCCCCTAGGGGGCTGTGCTGCTTTTATCCCAAGATGCCAGGCTGTCAGGCTGGGGTGCAATGCAAGCCCCCTGCTCAATGGGCTTCTCGGAAGGCATTTGAGGGGGGCTGGGGTGCGGCGGGAAGCAGGCACTGTGCCCACCCCGAACATTGTGTCTGTGCCAAGGTGAGTCATTCACTGGGCATGAAGAGGAGGCCCTGGGGGGCGGCCAGCCCAATGCTGCCAGGTCTGCTTGCAGACAAGGCCTGGCTGTCTGCCTCCTCCCCAGCTCACAGAGCCAGCTCAGGCCCCCGAGCCTCTGTCAGAGCAGCGTCCCCTACTCCACACCAGGATATGTTCTTTTTTTTTTTTTTT
Task1_train_24776
The gene GFAP (glial fibrillary acidic protein) on Chromosome 17 carries this variant. Does this mutation lead to a specific disease, or is it non-pathogenic?
Pathogenic; Alexander disease
CAGCTTCCTCCACCCTCCTTCCCCCATTCTCTTGTACAGAGCAAGAAGGGCTGCCTGGAGGAGGCAGGCTGGCCCACAGGCAGGGCTACCTTGGAGCGGTACCACTCTTCGGCTTCATGCATGTTGCTGGACGCCATTGCCTCATACTGCGTGCGGATCTCTTTCAGGGCTGCGGTGAGGTCTGGCTTGGCCACGTCAAGCTCCACATGGACCTGCTGTCGGGCCAGCTGCTCCTGGAGTTCCCGAACCTCCTGACCAGGGTGAGAGAAGCGGTACCAGGGCTCAGGGTACAGGCCACAGCTGGGGTTCCCCACGCCATTGTGTCCTCTTCTGCCTGCCCCTCGGCCAGGAGTTCGAATGCTCTCTTGTCTCTTTCCGTCTCCCTTAGTGTCTTTCTGTTTGTCTTTCATTTCCTGTCTCTACCTGCCAATCTCTGTTTCTCTCCTCTCTCTGAGTGTCTCTCTCAGTCTCAGCTTCTCTGTCTCTGTCTCTCCCTCTCTCAGTTGCAATCTCTGTGTTGAGCTTTCCTCCCTCTGCCCTGGCCTCACCTCCTCGTGGATCTTCCTCAAGAACCGGATCTCCTCCTCCAGCGACTCAATCTTCCTCTCCAGATCCAGACGGGCCAGGGTGGCTTCATCTGCTTCCTGGAGTGGCAGGAGGGGTGAGGAGTAGAGGGCCACTGGGGCCCCAGGCTCCTTCTCCCCATTCCTCAGCCTTGCCTTACCCCTCCTTCTGGGGCAGTGGGGAGCAGCACATTGCTCTGGCGGGCTGAGCTTGGGGGCTGTGTTTGGGTGGGTGGCCATCAATCCTTTCCTCCCTCCCCTGCCCCTCCCCTCCACCTCCCTGACCTGTCTATAGGCAGCCAGGTTGTTCTCGGCTTCCAGCCTCAGGTTGGTTTCATCCTGGAGCCTGGAGTGGGGGGACACATTCCTGGGTCCAGGCTCTTCTGAGGACACTTGAATACCTGCCTCAGTCTCCCTTGAGGCAGCTGTCACAGAGACCACCCCCACCCAGGACCAGTAGAGCAGCAGGAGGATTAAGGGTTGGGGGGCCTTAGACAGAGGACTTGTCTGGAGGATGAGCAGATGTGGGCTTTTGCCTTAACTCATTACTAAGGTGCCTTATCAGGGTTGGTGCACCTGCTTCTGCTCACACAGGCGCATCCACAAGCATACACTCACTGTTGCACACACACACACACACACGCACATGTCCTCCTGCACTTGAAGGCACACATGCATGTCCTGTCAGCTCAGTGAAGCGCCATGCCCCTGGGGATTCCTCTGATCCCAGGTAACCACCTTTTGAAATGAATTTTATTATGACCACCGCTTCACAGCTGTGCAAGTCAAAGTAACTTGATGGGGGTCACAAGCTGGTGGCAGGCAGTCACCTGTGCTTTGCGCCCAGACCTGCCTGCTCTTTCCCTCACTTTCTTCACCCCAGAATCCAATCTCCCTCATGGACATCAACCTTCTCCGCTTCCAACTCCTCCTTTATATGGACACAGGCTCAGAATAGGTGAGCTCGCTGCCCACAGTCACAAAGCCCAGCCATGAATGAAACACAGGGGCCCCGCTGCTCCTGCACTGCTTTCCCCAGTAGGGAGGTGCTGAGGGGACCCTGGACTCCTGGCAGAAGGCATGCGGGCATCAGATCCCCGGGGCCCTGGGCCTGTTTCTGGTCCCTCCCATCATGTTGGGGGGCAAGGATAGTGCCCCATCAAGAGGTAGGGAGGCCCAGGGAGCAGGGAGGTTCGGCCCCTCCCTGAGACTTCTCGGGCACTCCTTCTTGGGGATTCAGCCCCTTCTGCTCACAAGGCCCCCCTTCCCCATCCCCTCCTCACTTCTGCCTCACAGTGGCCAGGTCCTGTGCCAGATTGTCCCTCTCAACCTCCAGCCGGGCGCTGTTGGCGGTGAGTTGATCGAGCCGCAGCCGCAGCTCTCGCAGCTCAGCCTGGTAGACGTCTGCCAGCTTGGTGGGCTCCTTGGCCCGCAGCTGGTTCAGCTCAGCAGCCAGCGCCTTGTTTTGCTGTTCCAGGAAGCGAACCTTCTCGATGTAGCTGGCAAAGCGGTCATTGAGCTCCATCATCTCTGCCCGCTCACTGGCCCGGGTCTCCTTGAAGCCAGCATTGAGTGCCCCAGCCAGGGAGAAATCCACCCGGGTCGGGAGTGGAGGGGGCATTCGAGCCAGGGAGAGGCGGGTGCCAGGACCCAGACGGCGGCCAGGAGCCAGGCCCCCCACCATCATCTCCCCTGAGGAGACGTAGGAGCGGCGAGCAGCGGAGGTGATGCGTCTCCTCTCCATCCTGCTCTGGCTCTGCTCGCTCCTGGGATGCGAGGGCTTTATGAAGGAGTGGGCTAGACTGGCGATGCCCGGGTGCCCCTGGCAACACCCCCTGGCATAGCCTGAGGGGGTGGGGTTGGGCCGCAGCCCAGCTATGGGGAGAGCTCCCCTCACCCCACTGAGGTCACTGTGCCCAGAGGCAGAGCTTCCTGGGCACGCCAACTCCTGCATGAGGCAGGTGGTACCTGGAGCCAGACCATGGGTCTGGGGCCCTGACCGCTGAAGCAAGAGGACCCTCTCTCTAGGAAGGTGGGTCAAGAAAGGGTTGGTTGGACCATGATGAATACTTACAATTATTATGCATCAATTAAAAAGGAAGGAAAGGGCTGAGTGGGGTGGCTCATGCTTGTAATCCCAGCACTTTGGGAGGCTGAGGCTGGAGGATTGCTTGAGCCCAGTAGGTTGAGGCTGCAGTGAGCTGTGTTTGCGCCACTCCAGCCTGGGCAACAGAGAGAGACCTTGTCTCACAAAAAAAAAAAAAAAAAAGGGAAGGAAGGGCTGTACCAGATGACCTCTGACCTGCTTTCCAACTTTTTGATTTCATAACCCAGGCATTATCTCACTCAGCTGTAAGTGCCTGCAAGGTGCTGGGAATTTGGCGAAGAATGAACCTGTTCTGTACCCTCAAGGGCCACCTCATTTCCTACTAGGCCTCATTCCCAGCAGACTCCTGGAGTCCTTCCCTTGAACACAGATGTCCCACATTCCTGCTCTCTGCCCATTCATTCCCTGGAGTTCTGGGGCTGGGGGCTGGGATTGGACACCAGCCCTTTGTCTAAGGGTCAATCATGGCCTCTATGTGGCAGTGGAGGTCCTGATAGGGCAAGAGGGGGCCGGCACTCTCTTGCCTTATCAGGACTTTAGCCCCTGGATCTGTCCCTCCAGGTCACCCCTTCCTTGTCTGGCCTCCCTGTGCCTCTCTCCCAGAGACCAGGCCTTGACAGCTCCACAAAGCCGTTACACATGAGCTGGCTGTGCTGGCTCGTCTTTATTCCTGCAGCGCCCCGTTTCCCTGGCCACCCCTCCGTCTCCCACTGGAGATTTATTTCCTCGAGTTCCCACACATCAGCCTGGAGAGATGGGAAGAACCTCTGGGGATGGATGGGTTTGGAAACGCTGGAGCCACTGGGCCCAACTAGGAGCCTGAGACCTGGGCCCTGTTGTCCCTGGAGACTTCAGGTCCATCTACGCCCTCCACTCTGGTCCCACAGGGTCAGAACCCTGCCCAGTCCCCTCACCCATTTGTGTCCTTGGACTTCTGGGAAGCAGACAGCCCTCCTCTCCCCCCCTGCCACCCACTGTCCATGCCTGGGCATCCCCTGATCCCCTTTCCTGGGCACAGGCTGAATAGAGCCTTGTTCTCCACCGCCGGTGGCGCCACACAGCAAGGGCAGCCCCTAGGGGGCTGTGCTGCTTTTATCCCAAGATGCCAGGCTGTCAGGCTGGGGTGCAATGCAAGCCCCCTGCTCAATGGGCTTCTCGGAAGGCATTTGAGGGGGGCTGGGGTGCGGCGGGAAGCAGGCACTGTGCCCACCCCGAACATTGTGTCTGTGCCAAGGTGAGTCATTCACTGGGCATGAAGAGGAGGCCCTGGGGGGCGGCCAGCCCAATGCTGCCAGGTCTGCTTGCAGACAAGGCCTGGCTGTCTGCCTCCTCCCCAGCTCACAGAGCCAGCTCAGGCCCCCGAGCCTCTGTCAGAGCAGCGTCCCCTACTCCACACCAGGATATGTTCTTTTTTTTTTTTTTTTTT
CAGCTTCCTCCACCCTCCTTCCCCCATTCTCTTGTACAGAGCAAGAAGGGCTGCCTGGAGGAGGCAGGCTGGCCCACAGGCAGGGCTACCTTGGAGCGGTACCACTCTTCGGCTTCATGCATGTTGCTGGACGCCATTGCCTCATACTGCGTGCGGATCTCTTTCAGGGCTGCGGTGAGGTCTGGCTTGGCCACGTCAAGCTCCACATGGACCTGCTGTCGGGCCAGCTGCTCCTGGAGTTCCCGAACCTCCTGACCAGGGTGAGAGAAGCGGTACCAGGGCTCAGGGTACAGGCCACAGCTGGGGTTCCCCACGCCATTGTGTCCTCTTCTGCCTGCCCCTCGGCCAGGAGTTCGAATGCTCTCTTGTCTCTTTCCGTCTCCCTTAGTGTCTTTCTGTTTGTCTTTCATTTCCTGTCTCTACCTGCCAATCTCTGTTTCTCTCCTCTCTCTGAGTGTCTCTCTCAGTCTCAGCTTCTCTGTCTCTGTCTCTCCCTCTCTCAGTTGCAATCTCTGTGTTGAGCTTTCCTCCCTCTGCCCTGGCCTCACCTCCTCGTGGATCTTCCTCAAGAACCGGATCTCCTCCTCCAGCGACTCAATCTTCCTCTCCAGATCCAGACGGGCCAGGGTGGCTTCATCTGCTTCCTGGAGTGGCAGGAGGGGTGAGGAGTAGAGGGCCACTGGGGCCCCAGGCTCCTTCTCCCCATTCCTCAGCCTTGCCTTACCCCTCCTTCTGGGGCAGTGGGGAGCAGCACATTGCTCTGGCGGGCTGAGCTTGGGGGCTGTGTTTGGGTGGGTGGCCATCAATCCTTTCCTCCCTCCCCTGCCCCTCCCCTCCACCTCCCTGACCTGTCTATAGGCAGCCAGGTTGTTCTCGGCTTCCAGCCTCAGGTTGGTTTCATCCTGGAGCCTGGAGTGGGGGGACACATTCCTGGGTCCAGGCTCTTCTGAGGACACTTGAATACCTGCCTCAGTCTCCCTTGAGGCAGCTGTCACAGAGACCACCCCCACCCAGGACCAGTAGAGCAGCAGGAGGATTAAGGGTTGGGGGGCCTTAGACAGAGGACTTGTCTGGAGGATGAGCAGATGTGGGCTTTTGCCTTAACTCATTACTAAGGTGCCTTATCAGGGTTGGTGCACCTGCTTCTGCTCACACAGGCGCATCCACAAGCATACACTCACTGTTGCACACACACACACACACACGCACATGTCCTCCTGCACTTGAAGGCACACATGCATGTCCTGTCAGCTCAGTGAAGCGCCATGCCCCTGGGGATTCCTCTGATCCCAGGTAACCACCTTTTGAAATGAATTTTATTATGACCACCGCTTCACAGCTGTGCAAGTCAAAGTAACTTGATGGGGGTCACAAGCTGGTGGCAGGCAGTCACCTGTGCTTTGCGCCCAGACCTGCCTGCTCTTTCCCTCACTTTCTTCACCCCAGAATCCAATCTCCCTCATGGACATCAACCTTCTCCGCTTCCAACTCCTCCTTTATATGGACACAGGCTCAGAATAGGTGAGCTCGCTGCCCACAGTCACAAAGCCCAGCCATGAATGAAACACAGGGGCCCCGCTGCTCCTGCACTGCTTTCCCCAGTAGGGAGGTGCTGAGGGGACCCTGGACTCCTGGCAGAAGGCATGCGGGCATCAGATCCCCGGGGCCCTGGGCCTGTTTCTGGTCCCTCCCATCATGTTGGGGGGCAAGGATAGTGCCCCATCAAGAGGTAGGGAGGCCCAGGGAGCAGGGAGGTTCGGCCCCTCCCTGAGACTTCTCGGGCACTCCTTCTTGGGGATTCAGCCCCTTCTGCTCACAAGGCCCCCCTTCCCCATCCCCTCCTCACTTCTGCCTCACAGTGGCCAGGTCCTGTGCCAGATTGTCCCTCTCAACCTCCAGCCGGGCGCTGTTGGCGGTGAGTTGATCGAGCCGCAGCCGCAGCTCTCGCAGCTCAGCCTGGTAGACGTCTGCCAGCTTGGTGGGCTCCTTGGCCCGCAGCTGGTTCAGCTCAGCAGCCAGCGCCTTGTTTTGCTGTTCCAGGAAGCGAAGCTTCTCGATGTAGCTGGCAAAGCGGTCATTGAGCTCCATCATCTCTGCCCGCTCACTGGCCCGGGTCTCCTTGAAGCCAGCATTGAGTGCCCCAGCCAGGGAGAAATCCACCCGGGTCGGGAGTGGAGGGGGCATTCGAGCCAGGGAGAGGCGGGTGCCAGGACCCAGACGGCGGCCAGGAGCCAGGCCCCCCACCATCATCTCCCCTGAGGAGACGTAGGAGCGGCGAGCAGCGGAGGTGATGCGTCTCCTCTCCATCCTGCTCTGGCTCTGCTCGCTCCTGGGATGCGAGGGCTTTATGAAGGAGTGGGCTAGACTGGCGATGCCCGGGTGCCCCTGGCAACACCCCCTGGCATAGCCTGAGGGGGTGGGGTTGGGCCGCAGCCCAGCTATGGGGAGAGCTCCCCTCACCCCACTGAGGTCACTGTGCCCAGAGGCAGAGCTTCCTGGGCACGCCAACTCCTGCATGAGGCAGGTGGTACCTGGAGCCAGACCATGGGTCTGGGGCCCTGACCGCTGAAGCAAGAGGACCCTCTCTCTAGGAAGGTGGGTCAAGAAAGGGTTGGTTGGACCATGATGAATACTTACAATTATTATGCATCAATTAAAAAGGAAGGAAAGGGCTGAGTGGGGTGGCTCATGCTTGTAATCCCAGCACTTTGGGAGGCTGAGGCTGGAGGATTGCTTGAGCCCAGTAGGTTGAGGCTGCAGTGAGCTGTGTTTGCGCCACTCCAGCCTGGGCAACAGAGAGAGACCTTGTCTCACAAAAAAAAAAAAAAAAAAGGGAAGGAAGGGCTGTACCAGATGACCTCTGACCTGCTTTCCAACTTTTTGATTTCATAACCCAGGCATTATCTCACTCAGCTGTAAGTGCCTGCAAGGTGCTGGGAATTTGGCGAAGAATGAACCTGTTCTGTACCCTCAAGGGCCACCTCATTTCCTACTAGGCCTCATTCCCAGCAGACTCCTGGAGTCCTTCCCTTGAACACAGATGTCCCACATTCCTGCTCTCTGCCCATTCATTCCCTGGAGTTCTGGGGCTGGGGGCTGGGATTGGACACCAGCCCTTTGTCTAAGGGTCAATCATGGCCTCTATGTGGCAGTGGAGGTCCTGATAGGGCAAGAGGGGGCCGGCACTCTCTTGCCTTATCAGGACTTTAGCCCCTGGATCTGTCCCTCCAGGTCACCCCTTCCTTGTCTGGCCTCCCTGTGCCTCTCTCCCAGAGACCAGGCCTTGACAGCTCCACAAAGCCGTTACACATGAGCTGGCTGTGCTGGCTCGTCTTTATTCCTGCAGCGCCCCGTTTCCCTGGCCACCCCTCCGTCTCCCACTGGAGATTTATTTCCTCGAGTTCCCACACATCAGCCTGGAGAGATGGGAAGAACCTCTGGGGATGGATGGGTTTGGAAACGCTGGAGCCACTGGGCCCAACTAGGAGCCTGAGACCTGGGCCCTGTTGTCCCTGGAGACTTCAGGTCCATCTACGCCCTCCACTCTGGTCCCACAGGGTCAGAACCCTGCCCAGTCCCCTCACCCATTTGTGTCCTTGGACTTCTGGGAAGCAGACAGCCCTCCTCTCCCCCCCTGCCACCCACTGTCCATGCCTGGGCATCCCCTGATCCCCTTTCCTGGGCACAGGCTGAATAGAGCCTTGTTCTCCACCGCCGGTGGCGCCACACAGCAAGGGCAGCCCCTAGGGGGCTGTGCTGCTTTTATCCCAAGATGCCAGGCTGTCAGGCTGGGGTGCAATGCAAGCCCCCTGCTCAATGGGCTTCTCGGAAGGCATTTGAGGGGGGCTGGGGTGCGGCGGGAAGCAGGCACTGTGCCCACCCCGAACATTGTGTCTGTGCCAAGGTGAGTCATTCACTGGGCATGAAGAGGAGGCCCTGGGGGGCGGCCAGCCCAATGCTGCCAGGTCTGCTTGCAGACAAGGCCTGGCTGTCTGCCTCCTCCCCAGCTCACAGAGCCAGCTCAGGCCCCCGAGCCTCTGTCAGAGCAGCGTCCCCTACTCCACACCAGGATATGTTCTTTTTTTTTTTTTTTTTT
Task1_train_24777
Gene GFAP (glial fibrillary acidic protein) on Chromosome 17 is altered by this variant. Does this mutation result in a disease or is it benign?
Pathogenic; Alexander disease
CAGCTTCCTCCACCCTCCTTCCCCCATTCTCTTGTACAGAGCAAGAAGGGCTGCCTGGAGGAGGCAGGCTGGCCCACAGGCAGGGCTACCTTGGAGCGGTACCACTCTTCGGCTTCATGCATGTTGCTGGACGCCATTGCCTCATACTGCGTGCGGATCTCTTTCAGGGCTGCGGTGAGGTCTGGCTTGGCCACGTCAAGCTCCACATGGACCTGCTGTCGGGCCAGCTGCTCCTGGAGTTCCCGAACCTCCTGACCAGGGTGAGAGAAGCGGTACCAGGGCTCAGGGTACAGGCCACAGCTGGGGTTCCCCACGCCATTGTGTCCTCTTCTGCCTGCCCCTCGGCCAGGAGTTCGAATGCTCTCTTGTCTCTTTCCGTCTCCCTTAGTGTCTTTCTGTTTGTCTTTCATTTCCTGTCTCTACCTGCCAATCTCTGTTTCTCTCCTCTCTCTGAGTGTCTCTCTCAGTCTCAGCTTCTCTGTCTCTGTCTCTCCCTCTCTCAGTTGCAATCTCTGTGTTGAGCTTTCCTCCCTCTGCCCTGGCCTCACCTCCTCGTGGATCTTCCTCAAGAACCGGATCTCCTCCTCCAGCGACTCAATCTTCCTCTCCAGATCCAGACGGGCCAGGGTGGCTTCATCTGCTTCCTGGAGTGGCAGGAGGGGTGAGGAGTAGAGGGCCACTGGGGCCCCAGGCTCCTTCTCCCCATTCCTCAGCCTTGCCTTACCCCTCCTTCTGGGGCAGTGGGGAGCAGCACATTGCTCTGGCGGGCTGAGCTTGGGGGCTGTGTTTGGGTGGGTGGCCATCAATCCTTTCCTCCCTCCCCTGCCCCTCCCCTCCACCTCCCTGACCTGTCTATAGGCAGCCAGGTTGTTCTCGGCTTCCAGCCTCAGGTTGGTTTCATCCTGGAGCCTGGAGTGGGGGGACACATTCCTGGGTCCAGGCTCTTCTGAGGACACTTGAATACCTGCCTCAGTCTCCCTTGAGGCAGCTGTCACAGAGACCACCCCCACCCAGGACCAGTAGAGCAGCAGGAGGATTAAGGGTTGGGGGGCCTTAGACAGAGGACTTGTCTGGAGGATGAGCAGATGTGGGCTTTTGCCTTAACTCATTACTAAGGTGCCTTATCAGGGTTGGTGCACCTGCTTCTGCTCACACAGGCGCATCCACAAGCATACACTCACTGTTGCACACACACACACACACACGCACATGTCCTCCTGCACTTGAAGGCACACATGCATGTCCTGTCAGCTCAGTGAAGCGCCATGCCCCTGGGGATTCCTCTGATCCCAGGTAACCACCTTTTGAAATGAATTTTATTATGACCACCGCTTCACAGCTGTGCAAGTCAAAGTAACTTGATGGGGGTCACAAGCTGGTGGCAGGCAGTCACCTGTGCTTTGCGCCCAGACCTGCCTGCTCTTTCCCTCACTTTCTTCACCCCAGAATCCAATCTCCCTCATGGACATCAACCTTCTCCGCTTCCAACTCCTCCTTTATATGGACACAGGCTCAGAATAGGTGAGCTCGCTGCCCACAGTCACAAAGCCCAGCCATGAATGAAACACAGGGGCCCCGCTGCTCCTGCACTGCTTTCCCCAGTAGGGAGGTGCTGAGGGGACCCTGGACTCCTGGCAGAAGGCATGCGGGCATCAGATCCCCGGGGCCCTGGGCCTGTTTCTGGTCCCTCCCATCATGTTGGGGGGCAAGGATAGTGCCCCATCAAGAGGTAGGGAGGCCCAGGGAGCAGGGAGGTTCGGCCCCTCCCTGAGACTTCTCGGGCACTCCTTCTTGGGGATTCAGCCCCTTCTGCTCACAAGGCCCCCCTTCCCCATCCCCTCCTCACTTCTGCCTCACAGTGGCCAGGTCCTGTGCCAGATTGTCCCTCTCAACCTCCAGCCGGGCGCTGTTGGCGGTGAGTTGATCGAGCCGCAGCCGCAGCTCTCGCAGCTCAGCCTGGTAGACGTCTGCCAGCTTGGTGGGCTCCTTGGCCCGCAGCTGGTTCAGCTCAGCAGCCAGCGCCTTGTTTTGCTGTTCCAGGAAGCGAACCTTCTCGATGTAGCTGGCAAAGCGGTCATTGAGCTCCATCATCTCTGCCCGCTCACTGGCCCGGGTCTCCTTGAAGCCAGCATTGAGTGCCCCAGCCAGGGAGAAATCCACCCGGGTCGGGAGTGGAGGGGGCATTCGAGCCAGGGAGAGGCGGGTGCCAGGACCCAGACGGCGGCCAGGAGCCAGGCCCCCCACCATCATCTCCCCTGAGGAGACGTAGGAGCGGCGAGCAGCGGAGGTGATGCGTCTCCTCTCCATCCTGCTCTGGCTCTGCTCGCTCCTGGGATGCGAGGGCTTTATGAAGGAGTGGGCTAGACTGGCGATGCCCGGGTGCCCCTGGCAACACCCCCTGGCATAGCCTGAGGGGGTGGGGTTGGGCCGCAGCCCAGCTATGGGGAGAGCTCCCCTCACCCCACTGAGGTCACTGTGCCCAGAGGCAGAGCTTCCTGGGCACGCCAACTCCTGCATGAGGCAGGTGGTACCTGGAGCCAGACCATGGGTCTGGGGCCCTGACCGCTGAAGCAAGAGGACCCTCTCTCTAGGAAGGTGGGTCAAGAAAGGGTTGGTTGGACCATGATGAATACTTACAATTATTATGCATCAATTAAAAAGGAAGGAAAGGGCTGAGTGGGGTGGCTCATGCTTGTAATCCCAGCACTTTGGGAGGCTGAGGCTGGAGGATTGCTTGAGCCCAGTAGGTTGAGGCTGCAGTGAGCTGTGTTTGCGCCACTCCAGCCTGGGCAACAGAGAGAGACCTTGTCTCACAAAAAAAAAAAAAAAAAAGGGAAGGAAGGGCTGTACCAGATGACCTCTGACCTGCTTTCCAACTTTTTGATTTCATAACCCAGGCATTATCTCACTCAGCTGTAAGTGCCTGCAAGGTGCTGGGAATTTGGCGAAGAATGAACCTGTTCTGTACCCTCAAGGGCCACCTCATTTCCTACTAGGCCTCATTCCCAGCAGACTCCTGGAGTCCTTCCCTTGAACACAGATGTCCCACATTCCTGCTCTCTGCCCATTCATTCCCTGGAGTTCTGGGGCTGGGGGCTGGGATTGGACACCAGCCCTTTGTCTAAGGGTCAATCATGGCCTCTATGTGGCAGTGGAGGTCCTGATAGGGCAAGAGGGGGCCGGCACTCTCTTGCCTTATCAGGACTTTAGCCCCTGGATCTGTCCCTCCAGGTCACCCCTTCCTTGTCTGGCCTCCCTGTGCCTCTCTCCCAGAGACCAGGCCTTGACAGCTCCACAAAGCCGTTACACATGAGCTGGCTGTGCTGGCTCGTCTTTATTCCTGCAGCGCCCCGTTTCCCTGGCCACCCCTCCGTCTCCCACTGGAGATTTATTTCCTCGAGTTCCCACACATCAGCCTGGAGAGATGGGAAGAACCTCTGGGGATGGATGGGTTTGGAAACGCTGGAGCCACTGGGCCCAACTAGGAGCCTGAGACCTGGGCCCTGTTGTCCCTGGAGACTTCAGGTCCATCTACGCCCTCCACTCTGGTCCCACAGGGTCAGAACCCTGCCCAGTCCCCTCACCCATTTGTGTCCTTGGACTTCTGGGAAGCAGACAGCCCTCCTCTCCCCCCCTGCCACCCACTGTCCATGCCTGGGCATCCCCTGATCCCCTTTCCTGGGCACAGGCTGAATAGAGCCTTGTTCTCCACCGCCGGTGGCGCCACACAGCAAGGGCAGCCCCTAGGGGGCTGTGCTGCTTTTATCCCAAGATGCCAGGCTGTCAGGCTGGGGTGCAATGCAAGCCCCCTGCTCAATGGGCTTCTCGGAAGGCATTTGAGGGGGGCTGGGGTGCGGCGGGAAGCAGGCACTGTGCCCACCCCGAACATTGTGTCTGTGCCAAGGTGAGTCATTCACTGGGCATGAAGAGGAGGCCCTGGGGGGCGGCCAGCCCAATGCTGCCAGGTCTGCTTGCAGACAAGGCCTGGCTGTCTGCCTCCTCCCCAGCTCACAGAGCCAGCTCAGGCCCCCGAGCCTCTGTCAGAGCAGCGTCCCCTACTCCACACCAGGATATGTTCTTTTTTTTTTTTTTTTTT
CAGCTTCCTCCACCCTCCTTCCCCCATTCTCTTGTACAGAGCAAGAAGGGCTGCCTGGAGGAGGCAGGCTGGCCCACAGGCAGGGCTACCTTGGAGCGGTACCACTCTTCGGCTTCATGCATGTTGCTGGACGCCATTGCCTCATACTGCGTGCGGATCTCTTTCAGGGCTGCGGTGAGGTCTGGCTTGGCCACGTCAAGCTCCACATGGACCTGCTGTCGGGCCAGCTGCTCCTGGAGTTCCCGAACCTCCTGACCAGGGTGAGAGAAGCGGTACCAGGGCTCAGGGTACAGGCCACAGCTGGGGTTCCCCACGCCATTGTGTCCTCTTCTGCCTGCCCCTCGGCCAGGAGTTCGAATGCTCTCTTGTCTCTTTCCGTCTCCCTTAGTGTCTTTCTGTTTGTCTTTCATTTCCTGTCTCTACCTGCCAATCTCTGTTTCTCTCCTCTCTCTGAGTGTCTCTCTCAGTCTCAGCTTCTCTGTCTCTGTCTCTCCCTCTCTCAGTTGCAATCTCTGTGTTGAGCTTTCCTCCCTCTGCCCTGGCCTCACCTCCTCGTGGATCTTCCTCAAGAACCGGATCTCCTCCTCCAGCGACTCAATCTTCCTCTCCAGATCCAGACGGGCCAGGGTGGCTTCATCTGCTTCCTGGAGTGGCAGGAGGGGTGAGGAGTAGAGGGCCACTGGGGCCCCAGGCTCCTTCTCCCCATTCCTCAGCCTTGCCTTACCCCTCCTTCTGGGGCAGTGGGGAGCAGCACATTGCTCTGGCGGGCTGAGCTTGGGGGCTGTGTTTGGGTGGGTGGCCATCAATCCTTTCCTCCCTCCCCTGCCCCTCCCCTCCACCTCCCTGACCTGTCTATAGGCAGCCAGGTTGTTCTCGGCTTCCAGCCTCAGGTTGGTTTCATCCTGGAGCCTGGAGTGGGGGGACACATTCCTGGGTCCAGGCTCTTCTGAGGACACTTGAATACCTGCCTCAGTCTCCCTTGAGGCAGCTGTCACAGAGACCACCCCCACCCAGGACCAGTAGAGCAGCAGGAGGATTAAGGGTTGGGGGGCCTTAGACAGAGGACTTGTCTGGAGGATGAGCAGATGTGGGCTTTTGCCTTAACTCATTACTAAGGTGCCTTATCAGGGTTGGTGCACCTGCTTCTGCTCACACAGGCGCATCCACAAGCATACACTCACTGTTGCACACACACACACACACACGCACATGTCCTCCTGCACTTGAAGGCACACATGCATGTCCTGTCAGCTCAGTGAAGCGCCATGCCCCTGGGGATTCCTCTGATCCCAGGTAACCACCTTTTGAAATGAATTTTATTATGACCACCGCTTCACAGCTGTGCAAGTCAAAGTAACTTGATGGGGGTCACAAGCTGGTGGCAGGCAGTCACCTGTGCTTTGCGCCCAGACCTGCCTGCTCTTTCCCTCACTTTCTTCACCCCAGAATCCAATCTCCCTCATGGACATCAACCTTCTCCGCTTCCAACTCCTCCTTTATATGGACACAGGCTCAGAATAGGTGAGCTCGCTGCCCACAGTCACAAAGCCCAGCCATGAATGAAACACAGGGGCCCCGCTGCTCCTGCACTGCTTTCCCCAGTAGGGAGGTGCTGAGGGGACCCTGGACTCCTGGCAGAAGGCATGCGGGCATCAGATCCCCGGGGCCCTGGGCCTGTTTCTGGTCCCTCCCATCATGTTGGGGGGCAAGGATAGTGCCCCATCAAGAGGTAGGGAGGCCCAGGGAGCAGGGAGGTTCGGCCCCTCCCTGAGACTTCTCGGGCACTCCTTCTTGGGGATTCAGCCCCTTCTGCTCACAAGGCCCCCCTTCCCCATCCCCTCCTCACTTCTGCCTCACAGTGGCCAGGTCCTGTGCCAGATTGTCCCTCTCAACCTCCAGCCGGGCGCTGTTGGCGGTGAGTTGATCGAGCCGCAGCCGCAGCTCTCGCAGCTCAGCCTGGTAGACGTCTGCCAGCTTGGTGGGCTCCTTGGCCCGCAGCTGGTTCAGCTCAGCAGCCAGCGCCTTGTTTTGCTGTTCCAGGAAGCGAATCTTCTCGATGTAGCTGGCAAAGCGGTCATTGAGCTCCATCATCTCTGCCCGCTCACTGGCCCGGGTCTCCTTGAAGCCAGCATTGAGTGCCCCAGCCAGGGAGAAATCCACCCGGGTCGGGAGTGGAGGGGGCATTCGAGCCAGGGAGAGGCGGGTGCCAGGACCCAGACGGCGGCCAGGAGCCAGGCCCCCCACCATCATCTCCCCTGAGGAGACGTAGGAGCGGCGAGCAGCGGAGGTGATGCGTCTCCTCTCCATCCTGCTCTGGCTCTGCTCGCTCCTGGGATGCGAGGGCTTTATGAAGGAGTGGGCTAGACTGGCGATGCCCGGGTGCCCCTGGCAACACCCCCTGGCATAGCCTGAGGGGGTGGGGTTGGGCCGCAGCCCAGCTATGGGGAGAGCTCCCCTCACCCCACTGAGGTCACTGTGCCCAGAGGCAGAGCTTCCTGGGCACGCCAACTCCTGCATGAGGCAGGTGGTACCTGGAGCCAGACCATGGGTCTGGGGCCCTGACCGCTGAAGCAAGAGGACCCTCTCTCTAGGAAGGTGGGTCAAGAAAGGGTTGGTTGGACCATGATGAATACTTACAATTATTATGCATCAATTAAAAAGGAAGGAAAGGGCTGAGTGGGGTGGCTCATGCTTGTAATCCCAGCACTTTGGGAGGCTGAGGCTGGAGGATTGCTTGAGCCCAGTAGGTTGAGGCTGCAGTGAGCTGTGTTTGCGCCACTCCAGCCTGGGCAACAGAGAGAGACCTTGTCTCACAAAAAAAAAAAAAAAAAAGGGAAGGAAGGGCTGTACCAGATGACCTCTGACCTGCTTTCCAACTTTTTGATTTCATAACCCAGGCATTATCTCACTCAGCTGTAAGTGCCTGCAAGGTGCTGGGAATTTGGCGAAGAATGAACCTGTTCTGTACCCTCAAGGGCCACCTCATTTCCTACTAGGCCTCATTCCCAGCAGACTCCTGGAGTCCTTCCCTTGAACACAGATGTCCCACATTCCTGCTCTCTGCCCATTCATTCCCTGGAGTTCTGGGGCTGGGGGCTGGGATTGGACACCAGCCCTTTGTCTAAGGGTCAATCATGGCCTCTATGTGGCAGTGGAGGTCCTGATAGGGCAAGAGGGGGCCGGCACTCTCTTGCCTTATCAGGACTTTAGCCCCTGGATCTGTCCCTCCAGGTCACCCCTTCCTTGTCTGGCCTCCCTGTGCCTCTCTCCCAGAGACCAGGCCTTGACAGCTCCACAAAGCCGTTACACATGAGCTGGCTGTGCTGGCTCGTCTTTATTCCTGCAGCGCCCCGTTTCCCTGGCCACCCCTCCGTCTCCCACTGGAGATTTATTTCCTCGAGTTCCCACACATCAGCCTGGAGAGATGGGAAGAACCTCTGGGGATGGATGGGTTTGGAAACGCTGGAGCCACTGGGCCCAACTAGGAGCCTGAGACCTGGGCCCTGTTGTCCCTGGAGACTTCAGGTCCATCTACGCCCTCCACTCTGGTCCCACAGGGTCAGAACCCTGCCCAGTCCCCTCACCCATTTGTGTCCTTGGACTTCTGGGAAGCAGACAGCCCTCCTCTCCCCCCCTGCCACCCACTGTCCATGCCTGGGCATCCCCTGATCCCCTTTCCTGGGCACAGGCTGAATAGAGCCTTGTTCTCCACCGCCGGTGGCGCCACACAGCAAGGGCAGCCCCTAGGGGGCTGTGCTGCTTTTATCCCAAGATGCCAGGCTGTCAGGCTGGGGTGCAATGCAAGCCCCCTGCTCAATGGGCTTCTCGGAAGGCATTTGAGGGGGGCTGGGGTGCGGCGGGAAGCAGGCACTGTGCCCACCCCGAACATTGTGTCTGTGCCAAGGTGAGTCATTCACTGGGCATGAAGAGGAGGCCCTGGGGGGCGGCCAGCCCAATGCTGCCAGGTCTGCTTGCAGACAAGGCCTGGCTGTCTGCCTCCTCCCCAGCTCACAGAGCCAGCTCAGGCCCCCGAGCCTCTGTCAGAGCAGCGTCCCCTACTCCACACCAGGATATGTTCTTTTTTTTTTTTTTTTTT
Task1_train_24778
This is a variant in GFAP (glial fibrillary acidic protein), located on Chromosome 17. Is this mutation a likely cause of disease or not?
Pathogenic; Alexander disease
CTTCCCCCATTCTCTTGTACAGAGCAAGAAGGGCTGCCTGGAGGAGGCAGGCTGGCCCACAGGCAGGGCTACCTTGGAGCGGTACCACTCTTCGGCTTCATGCATGTTGCTGGACGCCATTGCCTCATACTGCGTGCGGATCTCTTTCAGGGCTGCGGTGAGGTCTGGCTTGGCCACGTCAAGCTCCACATGGACCTGCTGTCGGGCCAGCTGCTCCTGGAGTTCCCGAACCTCCTGACCAGGGTGAGAGAAGCGGTACCAGGGCTCAGGGTACAGGCCACAGCTGGGGTTCCCCACGCCATTGTGTCCTCTTCTGCCTGCCCCTCGGCCAGGAGTTCGAATGCTCTCTTGTCTCTTTCCGTCTCCCTTAGTGTCTTTCTGTTTGTCTTTCATTTCCTGTCTCTACCTGCCAATCTCTGTTTCTCTCCTCTCTCTGAGTGTCTCTCTCAGTCTCAGCTTCTCTGTCTCTGTCTCTCCCTCTCTCAGTTGCAATCTCTGTGTTGAGCTTTCCTCCCTCTGCCCTGGCCTCACCTCCTCGTGGATCTTCCTCAAGAACCGGATCTCCTCCTCCAGCGACTCAATCTTCCTCTCCAGATCCAGACGGGCCAGGGTGGCTTCATCTGCTTCCTGGAGTGGCAGGAGGGGTGAGGAGTAGAGGGCCACTGGGGCCCCAGGCTCCTTCTCCCCATTCCTCAGCCTTGCCTTACCCCTCCTTCTGGGGCAGTGGGGAGCAGCACATTGCTCTGGCGGGCTGAGCTTGGGGGCTGTGTTTGGGTGGGTGGCCATCAATCCTTTCCTCCCTCCCCTGCCCCTCCCCTCCACCTCCCTGACCTGTCTATAGGCAGCCAGGTTGTTCTCGGCTTCCAGCCTCAGGTTGGTTTCATCCTGGAGCCTGGAGTGGGGGGACACATTCCTGGGTCCAGGCTCTTCTGAGGACACTTGAATACCTGCCTCAGTCTCCCTTGAGGCAGCTGTCACAGAGACCACCCCCACCCAGGACCAGTAGAGCAGCAGGAGGATTAAGGGTTGGGGGGCCTTAGACAGAGGACTTGTCTGGAGGATGAGCAGATGTGGGCTTTTGCCTTAACTCATTACTAAGGTGCCTTATCAGGGTTGGTGCACCTGCTTCTGCTCACACAGGCGCATCCACAAGCATACACTCACTGTTGCACACACACACACACACACGCACATGTCCTCCTGCACTTGAAGGCACACATGCATGTCCTGTCAGCTCAGTGAAGCGCCATGCCCCTGGGGATTCCTCTGATCCCAGGTAACCACCTTTTGAAATGAATTTTATTATGACCACCGCTTCACAGCTGTGCAAGTCAAAGTAACTTGATGGGGGTCACAAGCTGGTGGCAGGCAGTCACCTGTGCTTTGCGCCCAGACCTGCCTGCTCTTTCCCTCACTTTCTTCACCCCAGAATCCAATCTCCCTCATGGACATCAACCTTCTCCGCTTCCAACTCCTCCTTTATATGGACACAGGCTCAGAATAGGTGAGCTCGCTGCCCACAGTCACAAAGCCCAGCCATGAATGAAACACAGGGGCCCCGCTGCTCCTGCACTGCTTTCCCCAGTAGGGAGGTGCTGAGGGGACCCTGGACTCCTGGCAGAAGGCATGCGGGCATCAGATCCCCGGGGCCCTGGGCCTGTTTCTGGTCCCTCCCATCATGTTGGGGGGCAAGGATAGTGCCCCATCAAGAGGTAGGGAGGCCCAGGGAGCAGGGAGGTTCGGCCCCTCCCTGAGACTTCTCGGGCACTCCTTCTTGGGGATTCAGCCCCTTCTGCTCACAAGGCCCCCCTTCCCCATCCCCTCCTCACTTCTGCCTCACAGTGGCCAGGTCCTGTGCCAGATTGTCCCTCTCAACCTCCAGCCGGGCGCTGTTGGCGGTGAGTTGATCGAGCCGCAGCCGCAGCTCTCGCAGCTCAGCCTGGTAGACGTCTGCCAGCTTGGTGGGCTCCTTGGCCCGCAGCTGGTTCAGCTCAGCAGCCAGCGCCTTGTTTTGCTGTTCCAGGAAGCGAACCTTCTCGATGTAGCTGGCAAAGCGGTCATTGAGCTCCATCATCTCTGCCCGCTCACTGGCCCGGGTCTCCTTGAAGCCAGCATTGAGTGCCCCAGCCAGGGAGAAATCCACCCGGGTCGGGAGTGGAGGGGGCATTCGAGCCAGGGAGAGGCGGGTGCCAGGACCCAGACGGCGGCCAGGAGCCAGGCCCCCCACCATCATCTCCCCTGAGGAGACGTAGGAGCGGCGAGCAGCGGAGGTGATGCGTCTCCTCTCCATCCTGCTCTGGCTCTGCTCGCTCCTGGGATGCGAGGGCTTTATGAAGGAGTGGGCTAGACTGGCGATGCCCGGGTGCCCCTGGCAACACCCCCTGGCATAGCCTGAGGGGGTGGGGTTGGGCCGCAGCCCAGCTATGGGGAGAGCTCCCCTCACCCCACTGAGGTCACTGTGCCCAGAGGCAGAGCTTCCTGGGCACGCCAACTCCTGCATGAGGCAGGTGGTACCTGGAGCCAGACCATGGGTCTGGGGCCCTGACCGCTGAAGCAAGAGGACCCTCTCTCTAGGAAGGTGGGTCAAGAAAGGGTTGGTTGGACCATGATGAATACTTACAATTATTATGCATCAATTAAAAAGGAAGGAAAGGGCTGAGTGGGGTGGCTCATGCTTGTAATCCCAGCACTTTGGGAGGCTGAGGCTGGAGGATTGCTTGAGCCCAGTAGGTTGAGGCTGCAGTGAGCTGTGTTTGCGCCACTCCAGCCTGGGCAACAGAGAGAGACCTTGTCTCACAAAAAAAAAAAAAAAAAAGGGAAGGAAGGGCTGTACCAGATGACCTCTGACCTGCTTTCCAACTTTTTGATTTCATAACCCAGGCATTATCTCACTCAGCTGTAAGTGCCTGCAAGGTGCTGGGAATTTGGCGAAGAATGAACCTGTTCTGTACCCTCAAGGGCCACCTCATTTCCTACTAGGCCTCATTCCCAGCAGACTCCTGGAGTCCTTCCCTTGAACACAGATGTCCCACATTCCTGCTCTCTGCCCATTCATTCCCTGGAGTTCTGGGGCTGGGGGCTGGGATTGGACACCAGCCCTTTGTCTAAGGGTCAATCATGGCCTCTATGTGGCAGTGGAGGTCCTGATAGGGCAAGAGGGGGCCGGCACTCTCTTGCCTTATCAGGACTTTAGCCCCTGGATCTGTCCCTCCAGGTCACCCCTTCCTTGTCTGGCCTCCCTGTGCCTCTCTCCCAGAGACCAGGCCTTGACAGCTCCACAAAGCCGTTACACATGAGCTGGCTGTGCTGGCTCGTCTTTATTCCTGCAGCGCCCCGTTTCCCTGGCCACCCCTCCGTCTCCCACTGGAGATTTATTTCCTCGAGTTCCCACACATCAGCCTGGAGAGATGGGAAGAACCTCTGGGGATGGATGGGTTTGGAAACGCTGGAGCCACTGGGCCCAACTAGGAGCCTGAGACCTGGGCCCTGTTGTCCCTGGAGACTTCAGGTCCATCTACGCCCTCCACTCTGGTCCCACAGGGTCAGAACCCTGCCCAGTCCCCTCACCCATTTGTGTCCTTGGACTTCTGGGAAGCAGACAGCCCTCCTCTCCCCCCCTGCCACCCACTGTCCATGCCTGGGCATCCCCTGATCCCCTTTCCTGGGCACAGGCTGAATAGAGCCTTGTTCTCCACCGCCGGTGGCGCCACACAGCAAGGGCAGCCCCTAGGGGGCTGTGCTGCTTTTATCCCAAGATGCCAGGCTGTCAGGCTGGGGTGCAATGCAAGCCCCCTGCTCAATGGGCTTCTCGGAAGGCATTTGAGGGGGGCTGGGGTGCGGCGGGAAGCAGGCACTGTGCCCACCCCGAACATTGTGTCTGTGCCAAGGTGAGTCATTCACTGGGCATGAAGAGGAGGCCCTGGGGGGCGGCCAGCCCAATGCTGCCAGGTCTGCTTGCAGACAAGGCCTGGCTGTCTGCCTCCTCCCCAGCTCACAGAGCCAGCTCAGGCCCCCGAGCCTCTGTCAGAGCAGCGTCCCCTACTCCACACCAGGATATGTTCTTTTTTTTTTTTTTTTTTTTTTTGTCTTTTGAGAC
CTTCCCCCATTCTCTTGTACAGAGCAAGAAGGGCTGCCTGGAGGAGGCAGGCTGGCCCACAGGCAGGGCTACCTTGGAGCGGTACCACTCTTCGGCTTCATGCATGTTGCTGGACGCCATTGCCTCATACTGCGTGCGGATCTCTTTCAGGGCTGCGGTGAGGTCTGGCTTGGCCACGTCAAGCTCCACATGGACCTGCTGTCGGGCCAGCTGCTCCTGGAGTTCCCGAACCTCCTGACCAGGGTGAGAGAAGCGGTACCAGGGCTCAGGGTACAGGCCACAGCTGGGGTTCCCCACGCCATTGTGTCCTCTTCTGCCTGCCCCTCGGCCAGGAGTTCGAATGCTCTCTTGTCTCTTTCCGTCTCCCTTAGTGTCTTTCTGTTTGTCTTTCATTTCCTGTCTCTACCTGCCAATCTCTGTTTCTCTCCTCTCTCTGAGTGTCTCTCTCAGTCTCAGCTTCTCTGTCTCTGTCTCTCCCTCTCTCAGTTGCAATCTCTGTGTTGAGCTTTCCTCCCTCTGCCCTGGCCTCACCTCCTCGTGGATCTTCCTCAAGAACCGGATCTCCTCCTCCAGCGACTCAATCTTCCTCTCCAGATCCAGACGGGCCAGGGTGGCTTCATCTGCTTCCTGGAGTGGCAGGAGGGGTGAGGAGTAGAGGGCCACTGGGGCCCCAGGCTCCTTCTCCCCATTCCTCAGCCTTGCCTTACCCCTCCTTCTGGGGCAGTGGGGAGCAGCACATTGCTCTGGCGGGCTGAGCTTGGGGGCTGTGTTTGGGTGGGTGGCCATCAATCCTTTCCTCCCTCCCCTGCCCCTCCCCTCCACCTCCCTGACCTGTCTATAGGCAGCCAGGTTGTTCTCGGCTTCCAGCCTCAGGTTGGTTTCATCCTGGAGCCTGGAGTGGGGGGACACATTCCTGGGTCCAGGCTCTTCTGAGGACACTTGAATACCTGCCTCAGTCTCCCTTGAGGCAGCTGTCACAGAGACCACCCCCACCCAGGACCAGTAGAGCAGCAGGAGGATTAAGGGTTGGGGGGCCTTAGACAGAGGACTTGTCTGGAGGATGAGCAGATGTGGGCTTTTGCCTTAACTCATTACTAAGGTGCCTTATCAGGGTTGGTGCACCTGCTTCTGCTCACACAGGCGCATCCACAAGCATACACTCACTGTTGCACACACACACACACACACGCACATGTCCTCCTGCACTTGAAGGCACACATGCATGTCCTGTCAGCTCAGTGAAGCGCCATGCCCCTGGGGATTCCTCTGATCCCAGGTAACCACCTTTTGAAATGAATTTTATTATGACCACCGCTTCACAGCTGTGCAAGTCAAAGTAACTTGATGGGGGTCACAAGCTGGTGGCAGGCAGTCACCTGTGCTTTGCGCCCAGACCTGCCTGCTCTTTCCCTCACTTTCTTCACCCCAGAATCCAATCTCCCTCATGGACATCAACCTTCTCCGCTTCCAACTCCTCCTTTATATGGACACAGGCTCAGAATAGGTGAGCTCGCTGCCCACAGTCACAAAGCCCAGCCATGAATGAAACACAGGGGCCCCGCTGCTCCTGCACTGCTTTCCCCAGTAGGGAGGTGCTGAGGGGACCCTGGACTCCTGGCAGAAGGCATGCGGGCATCAGATCCCCGGGGCCCTGGGCCTGTTTCTGGTCCCTCCCATCATGTTGGGGGGCAAGGATAGTGCCCCATCAAGAGGTAGGGAGGCCCAGGGAGCAGGGAGGTTCGGCCCCTCCCTGAGACTTCTCGGGCACTCCTTCTTGGGGATTCAGCCCCTTCTGCTCACAAGGCCCCCCTTCCCCATCCCCTCCTCACTTCTGCCTCACAGTGGCCAGGTCCTGTGCCAGATTGTCCCTCTCAACCTCCAGCCGGGCGCTGTTGGCGGTGAGTTGATCGAGCCGCAGCCGCAGCTCTCGCAGCTCAGCCTGGTAGACGTCTGCCAGCTTGGTGGGCTCCTTGGCCCGCAGCTGGTTCAGCTCAGCAGCCAGCGCCTTGTTTTGCTGTTCCAGGAAGCGAACCTTCTCGATGTAGCTGTCAAAGCGGTCATTGAGCTCCATCATCTCTGCCCGCTCACTGGCCCGGGTCTCCTTGAAGCCAGCATTGAGTGCCCCAGCCAGGGAGAAATCCACCCGGGTCGGGAGTGGAGGGGGCATTCGAGCCAGGGAGAGGCGGGTGCCAGGACCCAGACGGCGGCCAGGAGCCAGGCCCCCCACCATCATCTCCCCTGAGGAGACGTAGGAGCGGCGAGCAGCGGAGGTGATGCGTCTCCTCTCCATCCTGCTCTGGCTCTGCTCGCTCCTGGGATGCGAGGGCTTTATGAAGGAGTGGGCTAGACTGGCGATGCCCGGGTGCCCCTGGCAACACCCCCTGGCATAGCCTGAGGGGGTGGGGTTGGGCCGCAGCCCAGCTATGGGGAGAGCTCCCCTCACCCCACTGAGGTCACTGTGCCCAGAGGCAGAGCTTCCTGGGCACGCCAACTCCTGCATGAGGCAGGTGGTACCTGGAGCCAGACCATGGGTCTGGGGCCCTGACCGCTGAAGCAAGAGGACCCTCTCTCTAGGAAGGTGGGTCAAGAAAGGGTTGGTTGGACCATGATGAATACTTACAATTATTATGCATCAATTAAAAAGGAAGGAAAGGGCTGAGTGGGGTGGCTCATGCTTGTAATCCCAGCACTTTGGGAGGCTGAGGCTGGAGGATTGCTTGAGCCCAGTAGGTTGAGGCTGCAGTGAGCTGTGTTTGCGCCACTCCAGCCTGGGCAACAGAGAGAGACCTTGTCTCACAAAAAAAAAAAAAAAAAAGGGAAGGAAGGGCTGTACCAGATGACCTCTGACCTGCTTTCCAACTTTTTGATTTCATAACCCAGGCATTATCTCACTCAGCTGTAAGTGCCTGCAAGGTGCTGGGAATTTGGCGAAGAATGAACCTGTTCTGTACCCTCAAGGGCCACCTCATTTCCTACTAGGCCTCATTCCCAGCAGACTCCTGGAGTCCTTCCCTTGAACACAGATGTCCCACATTCCTGCTCTCTGCCCATTCATTCCCTGGAGTTCTGGGGCTGGGGGCTGGGATTGGACACCAGCCCTTTGTCTAAGGGTCAATCATGGCCTCTATGTGGCAGTGGAGGTCCTGATAGGGCAAGAGGGGGCCGGCACTCTCTTGCCTTATCAGGACTTTAGCCCCTGGATCTGTCCCTCCAGGTCACCCCTTCCTTGTCTGGCCTCCCTGTGCCTCTCTCCCAGAGACCAGGCCTTGACAGCTCCACAAAGCCGTTACACATGAGCTGGCTGTGCTGGCTCGTCTTTATTCCTGCAGCGCCCCGTTTCCCTGGCCACCCCTCCGTCTCCCACTGGAGATTTATTTCCTCGAGTTCCCACACATCAGCCTGGAGAGATGGGAAGAACCTCTGGGGATGGATGGGTTTGGAAACGCTGGAGCCACTGGGCCCAACTAGGAGCCTGAGACCTGGGCCCTGTTGTCCCTGGAGACTTCAGGTCCATCTACGCCCTCCACTCTGGTCCCACAGGGTCAGAACCCTGCCCAGTCCCCTCACCCATTTGTGTCCTTGGACTTCTGGGAAGCAGACAGCCCTCCTCTCCCCCCCTGCCACCCACTGTCCATGCCTGGGCATCCCCTGATCCCCTTTCCTGGGCACAGGCTGAATAGAGCCTTGTTCTCCACCGCCGGTGGCGCCACACAGCAAGGGCAGCCCCTAGGGGGCTGTGCTGCTTTTATCCCAAGATGCCAGGCTGTCAGGCTGGGGTGCAATGCAAGCCCCCTGCTCAATGGGCTTCTCGGAAGGCATTTGAGGGGGGCTGGGGTGCGGCGGGAAGCAGGCACTGTGCCCACCCCGAACATTGTGTCTGTGCCAAGGTGAGTCATTCACTGGGCATGAAGAGGAGGCCCTGGGGGGCGGCCAGCCCAATGCTGCCAGGTCTGCTTGCAGACAAGGCCTGGCTGTCTGCCTCCTCCCCAGCTCACAGAGCCAGCTCAGGCCCCCGAGCCTCTGTCAGAGCAGCGTCCCCTACTCCACACCAGGATATGTTCTTTTTTTTTTTTTTTTTTTTTTTGTCTTTTGAGAC
Task1_train_24779
Located on Chromosome 17, this mutation impacts GFAP (glial fibrillary acidic protein). What is its biological consequence — is it benign or pathogenic, and which disease is associated if any?
Pathogenic; Alexander disease
CCATTCTCTTGTACAGAGCAAGAAGGGCTGCCTGGAGGAGGCAGGCTGGCCCACAGGCAGGGCTACCTTGGAGCGGTACCACTCTTCGGCTTCATGCATGTTGCTGGACGCCATTGCCTCATACTGCGTGCGGATCTCTTTCAGGGCTGCGGTGAGGTCTGGCTTGGCCACGTCAAGCTCCACATGGACCTGCTGTCGGGCCAGCTGCTCCTGGAGTTCCCGAACCTCCTGACCAGGGTGAGAGAAGCGGTACCAGGGCTCAGGGTACAGGCCACAGCTGGGGTTCCCCACGCCATTGTGTCCTCTTCTGCCTGCCCCTCGGCCAGGAGTTCGAATGCTCTCTTGTCTCTTTCCGTCTCCCTTAGTGTCTTTCTGTTTGTCTTTCATTTCCTGTCTCTACCTGCCAATCTCTGTTTCTCTCCTCTCTCTGAGTGTCTCTCTCAGTCTCAGCTTCTCTGTCTCTGTCTCTCCCTCTCTCAGTTGCAATCTCTGTGTTGAGCTTTCCTCCCTCTGCCCTGGCCTCACCTCCTCGTGGATCTTCCTCAAGAACCGGATCTCCTCCTCCAGCGACTCAATCTTCCTCTCCAGATCCAGACGGGCCAGGGTGGCTTCATCTGCTTCCTGGAGTGGCAGGAGGGGTGAGGAGTAGAGGGCCACTGGGGCCCCAGGCTCCTTCTCCCCATTCCTCAGCCTTGCCTTACCCCTCCTTCTGGGGCAGTGGGGAGCAGCACATTGCTCTGGCGGGCTGAGCTTGGGGGCTGTGTTTGGGTGGGTGGCCATCAATCCTTTCCTCCCTCCCCTGCCCCTCCCCTCCACCTCCCTGACCTGTCTATAGGCAGCCAGGTTGTTCTCGGCTTCCAGCCTCAGGTTGGTTTCATCCTGGAGCCTGGAGTGGGGGGACACATTCCTGGGTCCAGGCTCTTCTGAGGACACTTGAATACCTGCCTCAGTCTCCCTTGAGGCAGCTGTCACAGAGACCACCCCCACCCAGGACCAGTAGAGCAGCAGGAGGATTAAGGGTTGGGGGGCCTTAGACAGAGGACTTGTCTGGAGGATGAGCAGATGTGGGCTTTTGCCTTAACTCATTACTAAGGTGCCTTATCAGGGTTGGTGCACCTGCTTCTGCTCACACAGGCGCATCCACAAGCATACACTCACTGTTGCACACACACACACACACACGCACATGTCCTCCTGCACTTGAAGGCACACATGCATGTCCTGTCAGCTCAGTGAAGCGCCATGCCCCTGGGGATTCCTCTGATCCCAGGTAACCACCTTTTGAAATGAATTTTATTATGACCACCGCTTCACAGCTGTGCAAGTCAAAGTAACTTGATGGGGGTCACAAGCTGGTGGCAGGCAGTCACCTGTGCTTTGCGCCCAGACCTGCCTGCTCTTTCCCTCACTTTCTTCACCCCAGAATCCAATCTCCCTCATGGACATCAACCTTCTCCGCTTCCAACTCCTCCTTTATATGGACACAGGCTCAGAATAGGTGAGCTCGCTGCCCACAGTCACAAAGCCCAGCCATGAATGAAACACAGGGGCCCCGCTGCTCCTGCACTGCTTTCCCCAGTAGGGAGGTGCTGAGGGGACCCTGGACTCCTGGCAGAAGGCATGCGGGCATCAGATCCCCGGGGCCCTGGGCCTGTTTCTGGTCCCTCCCATCATGTTGGGGGGCAAGGATAGTGCCCCATCAAGAGGTAGGGAGGCCCAGGGAGCAGGGAGGTTCGGCCCCTCCCTGAGACTTCTCGGGCACTCCTTCTTGGGGATTCAGCCCCTTCTGCTCACAAGGCCCCCCTTCCCCATCCCCTCCTCACTTCTGCCTCACAGTGGCCAGGTCCTGTGCCAGATTGTCCCTCTCAACCTCCAGCCGGGCGCTGTTGGCGGTGAGTTGATCGAGCCGCAGCCGCAGCTCTCGCAGCTCAGCCTGGTAGACGTCTGCCAGCTTGGTGGGCTCCTTGGCCCGCAGCTGGTTCAGCTCAGCAGCCAGCGCCTTGTTTTGCTGTTCCAGGAAGCGAACCTTCTCGATGTAGCTGGCAAAGCGGTCATTGAGCTCCATCATCTCTGCCCGCTCACTGGCCCGGGTCTCCTTGAAGCCAGCATTGAGTGCCCCAGCCAGGGAGAAATCCACCCGGGTCGGGAGTGGAGGGGGCATTCGAGCCAGGGAGAGGCGGGTGCCAGGACCCAGACGGCGGCCAGGAGCCAGGCCCCCCACCATCATCTCCCCTGAGGAGACGTAGGAGCGGCGAGCAGCGGAGGTGATGCGTCTCCTCTCCATCCTGCTCTGGCTCTGCTCGCTCCTGGGATGCGAGGGCTTTATGAAGGAGTGGGCTAGACTGGCGATGCCCGGGTGCCCCTGGCAACACCCCCTGGCATAGCCTGAGGGGGTGGGGTTGGGCCGCAGCCCAGCTATGGGGAGAGCTCCCCTCACCCCACTGAGGTCACTGTGCCCAGAGGCAGAGCTTCCTGGGCACGCCAACTCCTGCATGAGGCAGGTGGTACCTGGAGCCAGACCATGGGTCTGGGGCCCTGACCGCTGAAGCAAGAGGACCCTCTCTCTAGGAAGGTGGGTCAAGAAAGGGTTGGTTGGACCATGATGAATACTTACAATTATTATGCATCAATTAAAAAGGAAGGAAAGGGCTGAGTGGGGTGGCTCATGCTTGTAATCCCAGCACTTTGGGAGGCTGAGGCTGGAGGATTGCTTGAGCCCAGTAGGTTGAGGCTGCAGTGAGCTGTGTTTGCGCCACTCCAGCCTGGGCAACAGAGAGAGACCTTGTCTCACAAAAAAAAAAAAAAAAAAGGGAAGGAAGGGCTGTACCAGATGACCTCTGACCTGCTTTCCAACTTTTTGATTTCATAACCCAGGCATTATCTCACTCAGCTGTAAGTGCCTGCAAGGTGCTGGGAATTTGGCGAAGAATGAACCTGTTCTGTACCCTCAAGGGCCACCTCATTTCCTACTAGGCCTCATTCCCAGCAGACTCCTGGAGTCCTTCCCTTGAACACAGATGTCCCACATTCCTGCTCTCTGCCCATTCATTCCCTGGAGTTCTGGGGCTGGGGGCTGGGATTGGACACCAGCCCTTTGTCTAAGGGTCAATCATGGCCTCTATGTGGCAGTGGAGGTCCTGATAGGGCAAGAGGGGGCCGGCACTCTCTTGCCTTATCAGGACTTTAGCCCCTGGATCTGTCCCTCCAGGTCACCCCTTCCTTGTCTGGCCTCCCTGTGCCTCTCTCCCAGAGACCAGGCCTTGACAGCTCCACAAAGCCGTTACACATGAGCTGGCTGTGCTGGCTCGTCTTTATTCCTGCAGCGCCCCGTTTCCCTGGCCACCCCTCCGTCTCCCACTGGAGATTTATTTCCTCGAGTTCCCACACATCAGCCTGGAGAGATGGGAAGAACCTCTGGGGATGGATGGGTTTGGAAACGCTGGAGCCACTGGGCCCAACTAGGAGCCTGAGACCTGGGCCCTGTTGTCCCTGGAGACTTCAGGTCCATCTACGCCCTCCACTCTGGTCCCACAGGGTCAGAACCCTGCCCAGTCCCCTCACCCATTTGTGTCCTTGGACTTCTGGGAAGCAGACAGCCCTCCTCTCCCCCCCTGCCACCCACTGTCCATGCCTGGGCATCCCCTGATCCCCTTTCCTGGGCACAGGCTGAATAGAGCCTTGTTCTCCACCGCCGGTGGCGCCACACAGCAAGGGCAGCCCCTAGGGGGCTGTGCTGCTTTTATCCCAAGATGCCAGGCTGTCAGGCTGGGGTGCAATGCAAGCCCCCTGCTCAATGGGCTTCTCGGAAGGCATTTGAGGGGGGCTGGGGTGCGGCGGGAAGCAGGCACTGTGCCCACCCCGAACATTGTGTCTGTGCCAAGGTGAGTCATTCACTGGGCATGAAGAGGAGGCCCTGGGGGGCGGCCAGCCCAATGCTGCCAGGTCTGCTTGCAGACAAGGCCTGGCTGTCTGCCTCCTCCCCAGCTCACAGAGCCAGCTCAGGCCCCCGAGCCTCTGTCAGAGCAGCGTCCCCTACTCCACACCAGGATATGTTCTTTTTTTTTTTTTTTTTTTTTTTGTCTTTTGAGACAGGGTC
CCATTCTCTTGTACAGAGCAAGAAGGGCTGCCTGGAGGAGGCAGGCTGGCCCACAGGCAGGGCTACCTTGGAGCGGTACCACTCTTCGGCTTCATGCATGTTGCTGGACGCCATTGCCTCATACTGCGTGCGGATCTCTTTCAGGGCTGCGGTGAGGTCTGGCTTGGCCACGTCAAGCTCCACATGGACCTGCTGTCGGGCCAGCTGCTCCTGGAGTTCCCGAACCTCCTGACCAGGGTGAGAGAAGCGGTACCAGGGCTCAGGGTACAGGCCACAGCTGGGGTTCCCCACGCCATTGTGTCCTCTTCTGCCTGCCCCTCGGCCAGGAGTTCGAATGCTCTCTTGTCTCTTTCCGTCTCCCTTAGTGTCTTTCTGTTTGTCTTTCATTTCCTGTCTCTACCTGCCAATCTCTGTTTCTCTCCTCTCTCTGAGTGTCTCTCTCAGTCTCAGCTTCTCTGTCTCTGTCTCTCCCTCTCTCAGTTGCAATCTCTGTGTTGAGCTTTCCTCCCTCTGCCCTGGCCTCACCTCCTCGTGGATCTTCCTCAAGAACCGGATCTCCTCCTCCAGCGACTCAATCTTCCTCTCCAGATCCAGACGGGCCAGGGTGGCTTCATCTGCTTCCTGGAGTGGCAGGAGGGGTGAGGAGTAGAGGGCCACTGGGGCCCCAGGCTCCTTCTCCCCATTCCTCAGCCTTGCCTTACCCCTCCTTCTGGGGCAGTGGGGAGCAGCACATTGCTCTGGCGGGCTGAGCTTGGGGGCTGTGTTTGGGTGGGTGGCCATCAATCCTTTCCTCCCTCCCCTGCCCCTCCCCTCCACCTCCCTGACCTGTCTATAGGCAGCCAGGTTGTTCTCGGCTTCCAGCCTCAGGTTGGTTTCATCCTGGAGCCTGGAGTGGGGGGACACATTCCTGGGTCCAGGCTCTTCTGAGGACACTTGAATACCTGCCTCAGTCTCCCTTGAGGCAGCTGTCACAGAGACCACCCCCACCCAGGACCAGTAGAGCAGCAGGAGGATTAAGGGTTGGGGGGCCTTAGACAGAGGACTTGTCTGGAGGATGAGCAGATGTGGGCTTTTGCCTTAACTCATTACTAAGGTGCCTTATCAGGGTTGGTGCACCTGCTTCTGCTCACACAGGCGCATCCACAAGCATACACTCACTGTTGCACACACACACACACACACGCACATGTCCTCCTGCACTTGAAGGCACACATGCATGTCCTGTCAGCTCAGTGAAGCGCCATGCCCCTGGGGATTCCTCTGATCCCAGGTAACCACCTTTTGAAATGAATTTTATTATGACCACCGCTTCACAGCTGTGCAAGTCAAAGTAACTTGATGGGGGTCACAAGCTGGTGGCAGGCAGTCACCTGTGCTTTGCGCCCAGACCTGCCTGCTCTTTCCCTCACTTTCTTCACCCCAGAATCCAATCTCCCTCATGGACATCAACCTTCTCCGCTTCCAACTCCTCCTTTATATGGACACAGGCTCAGAATAGGTGAGCTCGCTGCCCACAGTCACAAAGCCCAGCCATGAATGAAACACAGGGGCCCCGCTGCTCCTGCACTGCTTTCCCCAGTAGGGAGGTGCTGAGGGGACCCTGGACTCCTGGCAGAAGGCATGCGGGCATCAGATCCCCGGGGCCCTGGGCCTGTTTCTGGTCCCTCCCATCATGTTGGGGGGCAAGGATAGTGCCCCATCAAGAGGTAGGGAGGCCCAGGGAGCAGGGAGGTTCGGCCCCTCCCTGAGACTTCTCGGGCACTCCTTCTTGGGGATTCAGCCCCTTCTGCTCACAAGGCCCCCCTTCCCCATCCCCTCCTCACTTCTGCCTCACAGTGGCCAGGTCCTGTGCCAGATTGTCCCTCTCAACCTCCAGCCGGGCGCTGTTGGCGGTGAGTTGATCGAGCCGCAGCCGCAGCTCTCGCAGCTCAGCCTGGTAGACGTCTGCCAGCTTGGTGGGCTCCTTGGCCCGCAGCTGGTTCAGCTCAGCAGCCAGCGCCTTGTTTTGCTGTTCCAGGAAGCGAACCTTCTCGATGTAGCTGGCAAAGTGGTCATTGAGCTCCATCATCTCTGCCCGCTCACTGGCCCGGGTCTCCTTGAAGCCAGCATTGAGTGCCCCAGCCAGGGAGAAATCCACCCGGGTCGGGAGTGGAGGGGGCATTCGAGCCAGGGAGAGGCGGGTGCCAGGACCCAGACGGCGGCCAGGAGCCAGGCCCCCCACCATCATCTCCCCTGAGGAGACGTAGGAGCGGCGAGCAGCGGAGGTGATGCGTCTCCTCTCCATCCTGCTCTGGCTCTGCTCGCTCCTGGGATGCGAGGGCTTTATGAAGGAGTGGGCTAGACTGGCGATGCCCGGGTGCCCCTGGCAACACCCCCTGGCATAGCCTGAGGGGGTGGGGTTGGGCCGCAGCCCAGCTATGGGGAGAGCTCCCCTCACCCCACTGAGGTCACTGTGCCCAGAGGCAGAGCTTCCTGGGCACGCCAACTCCTGCATGAGGCAGGTGGTACCTGGAGCCAGACCATGGGTCTGGGGCCCTGACCGCTGAAGCAAGAGGACCCTCTCTCTAGGAAGGTGGGTCAAGAAAGGGTTGGTTGGACCATGATGAATACTTACAATTATTATGCATCAATTAAAAAGGAAGGAAAGGGCTGAGTGGGGTGGCTCATGCTTGTAATCCCAGCACTTTGGGAGGCTGAGGCTGGAGGATTGCTTGAGCCCAGTAGGTTGAGGCTGCAGTGAGCTGTGTTTGCGCCACTCCAGCCTGGGCAACAGAGAGAGACCTTGTCTCACAAAAAAAAAAAAAAAAAAGGGAAGGAAGGGCTGTACCAGATGACCTCTGACCTGCTTTCCAACTTTTTGATTTCATAACCCAGGCATTATCTCACTCAGCTGTAAGTGCCTGCAAGGTGCTGGGAATTTGGCGAAGAATGAACCTGTTCTGTACCCTCAAGGGCCACCTCATTTCCTACTAGGCCTCATTCCCAGCAGACTCCTGGAGTCCTTCCCTTGAACACAGATGTCCCACATTCCTGCTCTCTGCCCATTCATTCCCTGGAGTTCTGGGGCTGGGGGCTGGGATTGGACACCAGCCCTTTGTCTAAGGGTCAATCATGGCCTCTATGTGGCAGTGGAGGTCCTGATAGGGCAAGAGGGGGCCGGCACTCTCTTGCCTTATCAGGACTTTAGCCCCTGGATCTGTCCCTCCAGGTCACCCCTTCCTTGTCTGGCCTCCCTGTGCCTCTCTCCCAGAGACCAGGCCTTGACAGCTCCACAAAGCCGTTACACATGAGCTGGCTGTGCTGGCTCGTCTTTATTCCTGCAGCGCCCCGTTTCCCTGGCCACCCCTCCGTCTCCCACTGGAGATTTATTTCCTCGAGTTCCCACACATCAGCCTGGAGAGATGGGAAGAACCTCTGGGGATGGATGGGTTTGGAAACGCTGGAGCCACTGGGCCCAACTAGGAGCCTGAGACCTGGGCCCTGTTGTCCCTGGAGACTTCAGGTCCATCTACGCCCTCCACTCTGGTCCCACAGGGTCAGAACCCTGCCCAGTCCCCTCACCCATTTGTGTCCTTGGACTTCTGGGAAGCAGACAGCCCTCCTCTCCCCCCCTGCCACCCACTGTCCATGCCTGGGCATCCCCTGATCCCCTTTCCTGGGCACAGGCTGAATAGAGCCTTGTTCTCCACCGCCGGTGGCGCCACACAGCAAGGGCAGCCCCTAGGGGGCTGTGCTGCTTTTATCCCAAGATGCCAGGCTGTCAGGCTGGGGTGCAATGCAAGCCCCCTGCTCAATGGGCTTCTCGGAAGGCATTTGAGGGGGGCTGGGGTGCGGCGGGAAGCAGGCACTGTGCCCACCCCGAACATTGTGTCTGTGCCAAGGTGAGTCATTCACTGGGCATGAAGAGGAGGCCCTGGGGGGCGGCCAGCCCAATGCTGCCAGGTCTGCTTGCAGACAAGGCCTGGCTGTCTGCCTCCTCCCCAGCTCACAGAGCCAGCTCAGGCCCCCGAGCCTCTGTCAGAGCAGCGTCCCCTACTCCACACCAGGATATGTTCTTTTTTTTTTTTTTTTTTTTTTTGTCTTTTGAGACAGGGTC
Task1_train_24780
This sequence change occurs on Chromosome 17, altering GFAP (glial fibrillary acidic protein). What is the medical significance of this variant — is it benign or linked to a disease?
Pathogenic; Alexander disease
CATTCTCTTGTACAGAGCAAGAAGGGCTGCCTGGAGGAGGCAGGCTGGCCCACAGGCAGGGCTACCTTGGAGCGGTACCACTCTTCGGCTTCATGCATGTTGCTGGACGCCATTGCCTCATACTGCGTGCGGATCTCTTTCAGGGCTGCGGTGAGGTCTGGCTTGGCCACGTCAAGCTCCACATGGACCTGCTGTCGGGCCAGCTGCTCCTGGAGTTCCCGAACCTCCTGACCAGGGTGAGAGAAGCGGTACCAGGGCTCAGGGTACAGGCCACAGCTGGGGTTCCCCACGCCATTGTGTCCTCTTCTGCCTGCCCCTCGGCCAGGAGTTCGAATGCTCTCTTGTCTCTTTCCGTCTCCCTTAGTGTCTTTCTGTTTGTCTTTCATTTCCTGTCTCTACCTGCCAATCTCTGTTTCTCTCCTCTCTCTGAGTGTCTCTCTCAGTCTCAGCTTCTCTGTCTCTGTCTCTCCCTCTCTCAGTTGCAATCTCTGTGTTGAGCTTTCCTCCCTCTGCCCTGGCCTCACCTCCTCGTGGATCTTCCTCAAGAACCGGATCTCCTCCTCCAGCGACTCAATCTTCCTCTCCAGATCCAGACGGGCCAGGGTGGCTTCATCTGCTTCCTGGAGTGGCAGGAGGGGTGAGGAGTAGAGGGCCACTGGGGCCCCAGGCTCCTTCTCCCCATTCCTCAGCCTTGCCTTACCCCTCCTTCTGGGGCAGTGGGGAGCAGCACATTGCTCTGGCGGGCTGAGCTTGGGGGCTGTGTTTGGGTGGGTGGCCATCAATCCTTTCCTCCCTCCCCTGCCCCTCCCCTCCACCTCCCTGACCTGTCTATAGGCAGCCAGGTTGTTCTCGGCTTCCAGCCTCAGGTTGGTTTCATCCTGGAGCCTGGAGTGGGGGGACACATTCCTGGGTCCAGGCTCTTCTGAGGACACTTGAATACCTGCCTCAGTCTCCCTTGAGGCAGCTGTCACAGAGACCACCCCCACCCAGGACCAGTAGAGCAGCAGGAGGATTAAGGGTTGGGGGGCCTTAGACAGAGGACTTGTCTGGAGGATGAGCAGATGTGGGCTTTTGCCTTAACTCATTACTAAGGTGCCTTATCAGGGTTGGTGCACCTGCTTCTGCTCACACAGGCGCATCCACAAGCATACACTCACTGTTGCACACACACACACACACACGCACATGTCCTCCTGCACTTGAAGGCACACATGCATGTCCTGTCAGCTCAGTGAAGCGCCATGCCCCTGGGGATTCCTCTGATCCCAGGTAACCACCTTTTGAAATGAATTTTATTATGACCACCGCTTCACAGCTGTGCAAGTCAAAGTAACTTGATGGGGGTCACAAGCTGGTGGCAGGCAGTCACCTGTGCTTTGCGCCCAGACCTGCCTGCTCTTTCCCTCACTTTCTTCACCCCAGAATCCAATCTCCCTCATGGACATCAACCTTCTCCGCTTCCAACTCCTCCTTTATATGGACACAGGCTCAGAATAGGTGAGCTCGCTGCCCACAGTCACAAAGCCCAGCCATGAATGAAACACAGGGGCCCCGCTGCTCCTGCACTGCTTTCCCCAGTAGGGAGGTGCTGAGGGGACCCTGGACTCCTGGCAGAAGGCATGCGGGCATCAGATCCCCGGGGCCCTGGGCCTGTTTCTGGTCCCTCCCATCATGTTGGGGGGCAAGGATAGTGCCCCATCAAGAGGTAGGGAGGCCCAGGGAGCAGGGAGGTTCGGCCCCTCCCTGAGACTTCTCGGGCACTCCTTCTTGGGGATTCAGCCCCTTCTGCTCACAAGGCCCCCCTTCCCCATCCCCTCCTCACTTCTGCCTCACAGTGGCCAGGTCCTGTGCCAGATTGTCCCTCTCAACCTCCAGCCGGGCGCTGTTGGCGGTGAGTTGATCGAGCCGCAGCCGCAGCTCTCGCAGCTCAGCCTGGTAGACGTCTGCCAGCTTGGTGGGCTCCTTGGCCCGCAGCTGGTTCAGCTCAGCAGCCAGCGCCTTGTTTTGCTGTTCCAGGAAGCGAACCTTCTCGATGTAGCTGGCAAAGCGGTCATTGAGCTCCATCATCTCTGCCCGCTCACTGGCCCGGGTCTCCTTGAAGCCAGCATTGAGTGCCCCAGCCAGGGAGAAATCCACCCGGGTCGGGAGTGGAGGGGGCATTCGAGCCAGGGAGAGGCGGGTGCCAGGACCCAGACGGCGGCCAGGAGCCAGGCCCCCCACCATCATCTCCCCTGAGGAGACGTAGGAGCGGCGAGCAGCGGAGGTGATGCGTCTCCTCTCCATCCTGCTCTGGCTCTGCTCGCTCCTGGGATGCGAGGGCTTTATGAAGGAGTGGGCTAGACTGGCGATGCCCGGGTGCCCCTGGCAACACCCCCTGGCATAGCCTGAGGGGGTGGGGTTGGGCCGCAGCCCAGCTATGGGGAGAGCTCCCCTCACCCCACTGAGGTCACTGTGCCCAGAGGCAGAGCTTCCTGGGCACGCCAACTCCTGCATGAGGCAGGTGGTACCTGGAGCCAGACCATGGGTCTGGGGCCCTGACCGCTGAAGCAAGAGGACCCTCTCTCTAGGAAGGTGGGTCAAGAAAGGGTTGGTTGGACCATGATGAATACTTACAATTATTATGCATCAATTAAAAAGGAAGGAAAGGGCTGAGTGGGGTGGCTCATGCTTGTAATCCCAGCACTTTGGGAGGCTGAGGCTGGAGGATTGCTTGAGCCCAGTAGGTTGAGGCTGCAGTGAGCTGTGTTTGCGCCACTCCAGCCTGGGCAACAGAGAGAGACCTTGTCTCACAAAAAAAAAAAAAAAAAAGGGAAGGAAGGGCTGTACCAGATGACCTCTGACCTGCTTTCCAACTTTTTGATTTCATAACCCAGGCATTATCTCACTCAGCTGTAAGTGCCTGCAAGGTGCTGGGAATTTGGCGAAGAATGAACCTGTTCTGTACCCTCAAGGGCCACCTCATTTCCTACTAGGCCTCATTCCCAGCAGACTCCTGGAGTCCTTCCCTTGAACACAGATGTCCCACATTCCTGCTCTCTGCCCATTCATTCCCTGGAGTTCTGGGGCTGGGGGCTGGGATTGGACACCAGCCCTTTGTCTAAGGGTCAATCATGGCCTCTATGTGGCAGTGGAGGTCCTGATAGGGCAAGAGGGGGCCGGCACTCTCTTGCCTTATCAGGACTTTAGCCCCTGGATCTGTCCCTCCAGGTCACCCCTTCCTTGTCTGGCCTCCCTGTGCCTCTCTCCCAGAGACCAGGCCTTGACAGCTCCACAAAGCCGTTACACATGAGCTGGCTGTGCTGGCTCGTCTTTATTCCTGCAGCGCCCCGTTTCCCTGGCCACCCCTCCGTCTCCCACTGGAGATTTATTTCCTCGAGTTCCCACACATCAGCCTGGAGAGATGGGAAGAACCTCTGGGGATGGATGGGTTTGGAAACGCTGGAGCCACTGGGCCCAACTAGGAGCCTGAGACCTGGGCCCTGTTGTCCCTGGAGACTTCAGGTCCATCTACGCCCTCCACTCTGGTCCCACAGGGTCAGAACCCTGCCCAGTCCCCTCACCCATTTGTGTCCTTGGACTTCTGGGAAGCAGACAGCCCTCCTCTCCCCCCCTGCCACCCACTGTCCATGCCTGGGCATCCCCTGATCCCCTTTCCTGGGCACAGGCTGAATAGAGCCTTGTTCTCCACCGCCGGTGGCGCCACACAGCAAGGGCAGCCCCTAGGGGGCTGTGCTGCTTTTATCCCAAGATGCCAGGCTGTCAGGCTGGGGTGCAATGCAAGCCCCCTGCTCAATGGGCTTCTCGGAAGGCATTTGAGGGGGGCTGGGGTGCGGCGGGAAGCAGGCACTGTGCCCACCCCGAACATTGTGTCTGTGCCAAGGTGAGTCATTCACTGGGCATGAAGAGGAGGCCCTGGGGGGCGGCCAGCCCAATGCTGCCAGGTCTGCTTGCAGACAAGGCCTGGCTGTCTGCCTCCTCCCCAGCTCACAGAGCCAGCTCAGGCCCCCGAGCCTCTGTCAGAGCAGCGTCCCCTACTCCACACCAGGATATGTTCTTTTTTTTTTTTTTTTTTTTTTTGTCTTTTGAGACAGGGTCT
CATTCTCTTGTACAGAGCAAGAAGGGCTGCCTGGAGGAGGCAGGCTGGCCCACAGGCAGGGCTACCTTGGAGCGGTACCACTCTTCGGCTTCATGCATGTTGCTGGACGCCATTGCCTCATACTGCGTGCGGATCTCTTTCAGGGCTGCGGTGAGGTCTGGCTTGGCCACGTCAAGCTCCACATGGACCTGCTGTCGGGCCAGCTGCTCCTGGAGTTCCCGAACCTCCTGACCAGGGTGAGAGAAGCGGTACCAGGGCTCAGGGTACAGGCCACAGCTGGGGTTCCCCACGCCATTGTGTCCTCTTCTGCCTGCCCCTCGGCCAGGAGTTCGAATGCTCTCTTGTCTCTTTCCGTCTCCCTTAGTGTCTTTCTGTTTGTCTTTCATTTCCTGTCTCTACCTGCCAATCTCTGTTTCTCTCCTCTCTCTGAGTGTCTCTCTCAGTCTCAGCTTCTCTGTCTCTGTCTCTCCCTCTCTCAGTTGCAATCTCTGTGTTGAGCTTTCCTCCCTCTGCCCTGGCCTCACCTCCTCGTGGATCTTCCTCAAGAACCGGATCTCCTCCTCCAGCGACTCAATCTTCCTCTCCAGATCCAGACGGGCCAGGGTGGCTTCATCTGCTTCCTGGAGTGGCAGGAGGGGTGAGGAGTAGAGGGCCACTGGGGCCCCAGGCTCCTTCTCCCCATTCCTCAGCCTTGCCTTACCCCTCCTTCTGGGGCAGTGGGGAGCAGCACATTGCTCTGGCGGGCTGAGCTTGGGGGCTGTGTTTGGGTGGGTGGCCATCAATCCTTTCCTCCCTCCCCTGCCCCTCCCCTCCACCTCCCTGACCTGTCTATAGGCAGCCAGGTTGTTCTCGGCTTCCAGCCTCAGGTTGGTTTCATCCTGGAGCCTGGAGTGGGGGGACACATTCCTGGGTCCAGGCTCTTCTGAGGACACTTGAATACCTGCCTCAGTCTCCCTTGAGGCAGCTGTCACAGAGACCACCCCCACCCAGGACCAGTAGAGCAGCAGGAGGATTAAGGGTTGGGGGGCCTTAGACAGAGGACTTGTCTGGAGGATGAGCAGATGTGGGCTTTTGCCTTAACTCATTACTAAGGTGCCTTATCAGGGTTGGTGCACCTGCTTCTGCTCACACAGGCGCATCCACAAGCATACACTCACTGTTGCACACACACACACACACACGCACATGTCCTCCTGCACTTGAAGGCACACATGCATGTCCTGTCAGCTCAGTGAAGCGCCATGCCCCTGGGGATTCCTCTGATCCCAGGTAACCACCTTTTGAAATGAATTTTATTATGACCACCGCTTCACAGCTGTGCAAGTCAAAGTAACTTGATGGGGGTCACAAGCTGGTGGCAGGCAGTCACCTGTGCTTTGCGCCCAGACCTGCCTGCTCTTTCCCTCACTTTCTTCACCCCAGAATCCAATCTCCCTCATGGACATCAACCTTCTCCGCTTCCAACTCCTCCTTTATATGGACACAGGCTCAGAATAGGTGAGCTCGCTGCCCACAGTCACAAAGCCCAGCCATGAATGAAACACAGGGGCCCCGCTGCTCCTGCACTGCTTTCCCCAGTAGGGAGGTGCTGAGGGGACCCTGGACTCCTGGCAGAAGGCATGCGGGCATCAGATCCCCGGGGCCCTGGGCCTGTTTCTGGTCCCTCCCATCATGTTGGGGGGCAAGGATAGTGCCCCATCAAGAGGTAGGGAGGCCCAGGGAGCAGGGAGGTTCGGCCCCTCCCTGAGACTTCTCGGGCACTCCTTCTTGGGGATTCAGCCCCTTCTGCTCACAAGGCCCCCCTTCCCCATCCCCTCCTCACTTCTGCCTCACAGTGGCCAGGTCCTGTGCCAGATTGTCCCTCTCAACCTCCAGCCGGGCGCTGTTGGCGGTGAGTTGATCGAGCCGCAGCCGCAGCTCTCGCAGCTCAGCCTGGTAGACGTCTGCCAGCTTGGTGGGCTCCTTGGCCCGCAGCTGGTTCAGCTCAGCAGCCAGCGCCTTGTTTTGCTGTTCCAGGAAGCGAACCTTCTCGATGTAGCTGGCAAAGCAGTCATTGAGCTCCATCATCTCTGCCCGCTCACTGGCCCGGGTCTCCTTGAAGCCAGCATTGAGTGCCCCAGCCAGGGAGAAATCCACCCGGGTCGGGAGTGGAGGGGGCATTCGAGCCAGGGAGAGGCGGGTGCCAGGACCCAGACGGCGGCCAGGAGCCAGGCCCCCCACCATCATCTCCCCTGAGGAGACGTAGGAGCGGCGAGCAGCGGAGGTGATGCGTCTCCTCTCCATCCTGCTCTGGCTCTGCTCGCTCCTGGGATGCGAGGGCTTTATGAAGGAGTGGGCTAGACTGGCGATGCCCGGGTGCCCCTGGCAACACCCCCTGGCATAGCCTGAGGGGGTGGGGTTGGGCCGCAGCCCAGCTATGGGGAGAGCTCCCCTCACCCCACTGAGGTCACTGTGCCCAGAGGCAGAGCTTCCTGGGCACGCCAACTCCTGCATGAGGCAGGTGGTACCTGGAGCCAGACCATGGGTCTGGGGCCCTGACCGCTGAAGCAAGAGGACCCTCTCTCTAGGAAGGTGGGTCAAGAAAGGGTTGGTTGGACCATGATGAATACTTACAATTATTATGCATCAATTAAAAAGGAAGGAAAGGGCTGAGTGGGGTGGCTCATGCTTGTAATCCCAGCACTTTGGGAGGCTGAGGCTGGAGGATTGCTTGAGCCCAGTAGGTTGAGGCTGCAGTGAGCTGTGTTTGCGCCACTCCAGCCTGGGCAACAGAGAGAGACCTTGTCTCACAAAAAAAAAAAAAAAAAAGGGAAGGAAGGGCTGTACCAGATGACCTCTGACCTGCTTTCCAACTTTTTGATTTCATAACCCAGGCATTATCTCACTCAGCTGTAAGTGCCTGCAAGGTGCTGGGAATTTGGCGAAGAATGAACCTGTTCTGTACCCTCAAGGGCCACCTCATTTCCTACTAGGCCTCATTCCCAGCAGACTCCTGGAGTCCTTCCCTTGAACACAGATGTCCCACATTCCTGCTCTCTGCCCATTCATTCCCTGGAGTTCTGGGGCTGGGGGCTGGGATTGGACACCAGCCCTTTGTCTAAGGGTCAATCATGGCCTCTATGTGGCAGTGGAGGTCCTGATAGGGCAAGAGGGGGCCGGCACTCTCTTGCCTTATCAGGACTTTAGCCCCTGGATCTGTCCCTCCAGGTCACCCCTTCCTTGTCTGGCCTCCCTGTGCCTCTCTCCCAGAGACCAGGCCTTGACAGCTCCACAAAGCCGTTACACATGAGCTGGCTGTGCTGGCTCGTCTTTATTCCTGCAGCGCCCCGTTTCCCTGGCCACCCCTCCGTCTCCCACTGGAGATTTATTTCCTCGAGTTCCCACACATCAGCCTGGAGAGATGGGAAGAACCTCTGGGGATGGATGGGTTTGGAAACGCTGGAGCCACTGGGCCCAACTAGGAGCCTGAGACCTGGGCCCTGTTGTCCCTGGAGACTTCAGGTCCATCTACGCCCTCCACTCTGGTCCCACAGGGTCAGAACCCTGCCCAGTCCCCTCACCCATTTGTGTCCTTGGACTTCTGGGAAGCAGACAGCCCTCCTCTCCCCCCCTGCCACCCACTGTCCATGCCTGGGCATCCCCTGATCCCCTTTCCTGGGCACAGGCTGAATAGAGCCTTGTTCTCCACCGCCGGTGGCGCCACACAGCAAGGGCAGCCCCTAGGGGGCTGTGCTGCTTTTATCCCAAGATGCCAGGCTGTCAGGCTGGGGTGCAATGCAAGCCCCCTGCTCAATGGGCTTCTCGGAAGGCATTTGAGGGGGGCTGGGGTGCGGCGGGAAGCAGGCACTGTGCCCACCCCGAACATTGTGTCTGTGCCAAGGTGAGTCATTCACTGGGCATGAAGAGGAGGCCCTGGGGGGCGGCCAGCCCAATGCTGCCAGGTCTGCTTGCAGACAAGGCCTGGCTGTCTGCCTCCTCCCCAGCTCACAGAGCCAGCTCAGGCCCCCGAGCCTCTGTCAGAGCAGCGTCCCCTACTCCACACCAGGATATGTTCTTTTTTTTTTTTTTTTTTTTTTTGTCTTTTGAGACAGGGTCT
Task1_train_24781
A genomic change on Chromosome 17 affects GFAP (glial fibrillary acidic protein). Classify this variant as benign or pathogenic, and name the disease if relevant.
Pathogenic; not provided
CATTCTCTTGTACAGAGCAAGAAGGGCTGCCTGGAGGAGGCAGGCTGGCCCACAGGCAGGGCTACCTTGGAGCGGTACCACTCTTCGGCTTCATGCATGTTGCTGGACGCCATTGCCTCATACTGCGTGCGGATCTCTTTCAGGGCTGCGGTGAGGTCTGGCTTGGCCACGTCAAGCTCCACATGGACCTGCTGTCGGGCCAGCTGCTCCTGGAGTTCCCGAACCTCCTGACCAGGGTGAGAGAAGCGGTACCAGGGCTCAGGGTACAGGCCACAGCTGGGGTTCCCCACGCCATTGTGTCCTCTTCTGCCTGCCCCTCGGCCAGGAGTTCGAATGCTCTCTTGTCTCTTTCCGTCTCCCTTAGTGTCTTTCTGTTTGTCTTTCATTTCCTGTCTCTACCTGCCAATCTCTGTTTCTCTCCTCTCTCTGAGTGTCTCTCTCAGTCTCAGCTTCTCTGTCTCTGTCTCTCCCTCTCTCAGTTGCAATCTCTGTGTTGAGCTTTCCTCCCTCTGCCCTGGCCTCACCTCCTCGTGGATCTTCCTCAAGAACCGGATCTCCTCCTCCAGCGACTCAATCTTCCTCTCCAGATCCAGACGGGCCAGGGTGGCTTCATCTGCTTCCTGGAGTGGCAGGAGGGGTGAGGAGTAGAGGGCCACTGGGGCCCCAGGCTCCTTCTCCCCATTCCTCAGCCTTGCCTTACCCCTCCTTCTGGGGCAGTGGGGAGCAGCACATTGCTCTGGCGGGCTGAGCTTGGGGGCTGTGTTTGGGTGGGTGGCCATCAATCCTTTCCTCCCTCCCCTGCCCCTCCCCTCCACCTCCCTGACCTGTCTATAGGCAGCCAGGTTGTTCTCGGCTTCCAGCCTCAGGTTGGTTTCATCCTGGAGCCTGGAGTGGGGGGACACATTCCTGGGTCCAGGCTCTTCTGAGGACACTTGAATACCTGCCTCAGTCTCCCTTGAGGCAGCTGTCACAGAGACCACCCCCACCCAGGACCAGTAGAGCAGCAGGAGGATTAAGGGTTGGGGGGCCTTAGACAGAGGACTTGTCTGGAGGATGAGCAGATGTGGGCTTTTGCCTTAACTCATTACTAAGGTGCCTTATCAGGGTTGGTGCACCTGCTTCTGCTCACACAGGCGCATCCACAAGCATACACTCACTGTTGCACACACACACACACACACGCACATGTCCTCCTGCACTTGAAGGCACACATGCATGTCCTGTCAGCTCAGTGAAGCGCCATGCCCCTGGGGATTCCTCTGATCCCAGGTAACCACCTTTTGAAATGAATTTTATTATGACCACCGCTTCACAGCTGTGCAAGTCAAAGTAACTTGATGGGGGTCACAAGCTGGTGGCAGGCAGTCACCTGTGCTTTGCGCCCAGACCTGCCTGCTCTTTCCCTCACTTTCTTCACCCCAGAATCCAATCTCCCTCATGGACATCAACCTTCTCCGCTTCCAACTCCTCCTTTATATGGACACAGGCTCAGAATAGGTGAGCTCGCTGCCCACAGTCACAAAGCCCAGCCATGAATGAAACACAGGGGCCCCGCTGCTCCTGCACTGCTTTCCCCAGTAGGGAGGTGCTGAGGGGACCCTGGACTCCTGGCAGAAGGCATGCGGGCATCAGATCCCCGGGGCCCTGGGCCTGTTTCTGGTCCCTCCCATCATGTTGGGGGGCAAGGATAGTGCCCCATCAAGAGGTAGGGAGGCCCAGGGAGCAGGGAGGTTCGGCCCCTCCCTGAGACTTCTCGGGCACTCCTTCTTGGGGATTCAGCCCCTTCTGCTCACAAGGCCCCCCTTCCCCATCCCCTCCTCACTTCTGCCTCACAGTGGCCAGGTCCTGTGCCAGATTGTCCCTCTCAACCTCCAGCCGGGCGCTGTTGGCGGTGAGTTGATCGAGCCGCAGCCGCAGCTCTCGCAGCTCAGCCTGGTAGACGTCTGCCAGCTTGGTGGGCTCCTTGGCCCGCAGCTGGTTCAGCTCAGCAGCCAGCGCCTTGTTTTGCTGTTCCAGGAAGCGAACCTTCTCGATGTAGCTGGCAAAGCGGTCATTGAGCTCCATCATCTCTGCCCGCTCACTGGCCCGGGTCTCCTTGAAGCCAGCATTGAGTGCCCCAGCCAGGGAGAAATCCACCCGGGTCGGGAGTGGAGGGGGCATTCGAGCCAGGGAGAGGCGGGTGCCAGGACCCAGACGGCGGCCAGGAGCCAGGCCCCCCACCATCATCTCCCCTGAGGAGACGTAGGAGCGGCGAGCAGCGGAGGTGATGCGTCTCCTCTCCATCCTGCTCTGGCTCTGCTCGCTCCTGGGATGCGAGGGCTTTATGAAGGAGTGGGCTAGACTGGCGATGCCCGGGTGCCCCTGGCAACACCCCCTGGCATAGCCTGAGGGGGTGGGGTTGGGCCGCAGCCCAGCTATGGGGAGAGCTCCCCTCACCCCACTGAGGTCACTGTGCCCAGAGGCAGAGCTTCCTGGGCACGCCAACTCCTGCATGAGGCAGGTGGTACCTGGAGCCAGACCATGGGTCTGGGGCCCTGACCGCTGAAGCAAGAGGACCCTCTCTCTAGGAAGGTGGGTCAAGAAAGGGTTGGTTGGACCATGATGAATACTTACAATTATTATGCATCAATTAAAAAGGAAGGAAAGGGCTGAGTGGGGTGGCTCATGCTTGTAATCCCAGCACTTTGGGAGGCTGAGGCTGGAGGATTGCTTGAGCCCAGTAGGTTGAGGCTGCAGTGAGCTGTGTTTGCGCCACTCCAGCCTGGGCAACAGAGAGAGACCTTGTCTCACAAAAAAAAAAAAAAAAAAGGGAAGGAAGGGCTGTACCAGATGACCTCTGACCTGCTTTCCAACTTTTTGATTTCATAACCCAGGCATTATCTCACTCAGCTGTAAGTGCCTGCAAGGTGCTGGGAATTTGGCGAAGAATGAACCTGTTCTGTACCCTCAAGGGCCACCTCATTTCCTACTAGGCCTCATTCCCAGCAGACTCCTGGAGTCCTTCCCTTGAACACAGATGTCCCACATTCCTGCTCTCTGCCCATTCATTCCCTGGAGTTCTGGGGCTGGGGGCTGGGATTGGACACCAGCCCTTTGTCTAAGGGTCAATCATGGCCTCTATGTGGCAGTGGAGGTCCTGATAGGGCAAGAGGGGGCCGGCACTCTCTTGCCTTATCAGGACTTTAGCCCCTGGATCTGTCCCTCCAGGTCACCCCTTCCTTGTCTGGCCTCCCTGTGCCTCTCTCCCAGAGACCAGGCCTTGACAGCTCCACAAAGCCGTTACACATGAGCTGGCTGTGCTGGCTCGTCTTTATTCCTGCAGCGCCCCGTTTCCCTGGCCACCCCTCCGTCTCCCACTGGAGATTTATTTCCTCGAGTTCCCACACATCAGCCTGGAGAGATGGGAAGAACCTCTGGGGATGGATGGGTTTGGAAACGCTGGAGCCACTGGGCCCAACTAGGAGCCTGAGACCTGGGCCCTGTTGTCCCTGGAGACTTCAGGTCCATCTACGCCCTCCACTCTGGTCCCACAGGGTCAGAACCCTGCCCAGTCCCCTCACCCATTTGTGTCCTTGGACTTCTGGGAAGCAGACAGCCCTCCTCTCCCCCCCTGCCACCCACTGTCCATGCCTGGGCATCCCCTGATCCCCTTTCCTGGGCACAGGCTGAATAGAGCCTTGTTCTCCACCGCCGGTGGCGCCACACAGCAAGGGCAGCCCCTAGGGGGCTGTGCTGCTTTTATCCCAAGATGCCAGGCTGTCAGGCTGGGGTGCAATGCAAGCCCCCTGCTCAATGGGCTTCTCGGAAGGCATTTGAGGGGGGCTGGGGTGCGGCGGGAAGCAGGCACTGTGCCCACCCCGAACATTGTGTCTGTGCCAAGGTGAGTCATTCACTGGGCATGAAGAGGAGGCCCTGGGGGGCGGCCAGCCCAATGCTGCCAGGTCTGCTTGCAGACAAGGCCTGGCTGTCTGCCTCCTCCCCAGCTCACAGAGCCAGCTCAGGCCCCCGAGCCTCTGTCAGAGCAGCGTCCCCTACTCCACACCAGGATATGTTCTTTTTTTTTTTTTTTTTTTTTTTGTCTTTTGAGACAGGGTCT
CATTCTCTTGTACAGAGCAAGAAGGGCTGCCTGGAGGAGGCAGGCTGGCCCACAGGCAGGGCTACCTTGGAGCGGTACCACTCTTCGGCTTCATGCATGTTGCTGGACGCCATTGCCTCATACTGCGTGCGGATCTCTTTCAGGGCTGCGGTGAGGTCTGGCTTGGCCACGTCAAGCTCCACATGGACCTGCTGTCGGGCCAGCTGCTCCTGGAGTTCCCGAACCTCCTGACCAGGGTGAGAGAAGCGGTACCAGGGCTCAGGGTACAGGCCACAGCTGGGGTTCCCCACGCCATTGTGTCCTCTTCTGCCTGCCCCTCGGCCAGGAGTTCGAATGCTCTCTTGTCTCTTTCCGTCTCCCTTAGTGTCTTTCTGTTTGTCTTTCATTTCCTGTCTCTACCTGCCAATCTCTGTTTCTCTCCTCTCTCTGAGTGTCTCTCTCAGTCTCAGCTTCTCTGTCTCTGTCTCTCCCTCTCTCAGTTGCAATCTCTGTGTTGAGCTTTCCTCCCTCTGCCCTGGCCTCACCTCCTCGTGGATCTTCCTCAAGAACCGGATCTCCTCCTCCAGCGACTCAATCTTCCTCTCCAGATCCAGACGGGCCAGGGTGGCTTCATCTGCTTCCTGGAGTGGCAGGAGGGGTGAGGAGTAGAGGGCCACTGGGGCCCCAGGCTCCTTCTCCCCATTCCTCAGCCTTGCCTTACCCCTCCTTCTGGGGCAGTGGGGAGCAGCACATTGCTCTGGCGGGCTGAGCTTGGGGGCTGTGTTTGGGTGGGTGGCCATCAATCCTTTCCTCCCTCCCCTGCCCCTCCCCTCCACCTCCCTGACCTGTCTATAGGCAGCCAGGTTGTTCTCGGCTTCCAGCCTCAGGTTGGTTTCATCCTGGAGCCTGGAGTGGGGGGACACATTCCTGGGTCCAGGCTCTTCTGAGGACACTTGAATACCTGCCTCAGTCTCCCTTGAGGCAGCTGTCACAGAGACCACCCCCACCCAGGACCAGTAGAGCAGCAGGAGGATTAAGGGTTGGGGGGCCTTAGACAGAGGACTTGTCTGGAGGATGAGCAGATGTGGGCTTTTGCCTTAACTCATTACTAAGGTGCCTTATCAGGGTTGGTGCACCTGCTTCTGCTCACACAGGCGCATCCACAAGCATACACTCACTGTTGCACACACACACACACACACGCACATGTCCTCCTGCACTTGAAGGCACACATGCATGTCCTGTCAGCTCAGTGAAGCGCCATGCCCCTGGGGATTCCTCTGATCCCAGGTAACCACCTTTTGAAATGAATTTTATTATGACCACCGCTTCACAGCTGTGCAAGTCAAAGTAACTTGATGGGGGTCACAAGCTGGTGGCAGGCAGTCACCTGTGCTTTGCGCCCAGACCTGCCTGCTCTTTCCCTCACTTTCTTCACCCCAGAATCCAATCTCCCTCATGGACATCAACCTTCTCCGCTTCCAACTCCTCCTTTATATGGACACAGGCTCAGAATAGGTGAGCTCGCTGCCCACAGTCACAAAGCCCAGCCATGAATGAAACACAGGGGCCCCGCTGCTCCTGCACTGCTTTCCCCAGTAGGGAGGTGCTGAGGGGACCCTGGACTCCTGGCAGAAGGCATGCGGGCATCAGATCCCCGGGGCCCTGGGCCTGTTTCTGGTCCCTCCCATCATGTTGGGGGGCAAGGATAGTGCCCCATCAAGAGGTAGGGAGGCCCAGGGAGCAGGGAGGTTCGGCCCCTCCCTGAGACTTCTCGGGCACTCCTTCTTGGGGATTCAGCCCCTTCTGCTCACAAGGCCCCCCTTCCCCATCCCCTCCTCACTTCTGCCTCACAGTGGCCAGGTCCTGTGCCAGATTGTCCCTCTCAACCTCCAGCCGGGCGCTGTTGGCGGTGAGTTGATCGAGCCGCAGCCGCAGCTCTCGCAGCTCAGCCTGGTAGACGTCTGCCAGCTTGGTGGGCTCCTTGGCCCGCAGCTGGTTCAGCTCAGCAGCCAGCGCCTTGTTTTGCTGTTCCAGGAAGCGAACCTTCTCGATGTAGCTGGCAAAGCCGTCATTGAGCTCCATCATCTCTGCCCGCTCACTGGCCCGGGTCTCCTTGAAGCCAGCATTGAGTGCCCCAGCCAGGGAGAAATCCACCCGGGTCGGGAGTGGAGGGGGCATTCGAGCCAGGGAGAGGCGGGTGCCAGGACCCAGACGGCGGCCAGGAGCCAGGCCCCCCACCATCATCTCCCCTGAGGAGACGTAGGAGCGGCGAGCAGCGGAGGTGATGCGTCTCCTCTCCATCCTGCTCTGGCTCTGCTCGCTCCTGGGATGCGAGGGCTTTATGAAGGAGTGGGCTAGACTGGCGATGCCCGGGTGCCCCTGGCAACACCCCCTGGCATAGCCTGAGGGGGTGGGGTTGGGCCGCAGCCCAGCTATGGGGAGAGCTCCCCTCACCCCACTGAGGTCACTGTGCCCAGAGGCAGAGCTTCCTGGGCACGCCAACTCCTGCATGAGGCAGGTGGTACCTGGAGCCAGACCATGGGTCTGGGGCCCTGACCGCTGAAGCAAGAGGACCCTCTCTCTAGGAAGGTGGGTCAAGAAAGGGTTGGTTGGACCATGATGAATACTTACAATTATTATGCATCAATTAAAAAGGAAGGAAAGGGCTGAGTGGGGTGGCTCATGCTTGTAATCCCAGCACTTTGGGAGGCTGAGGCTGGAGGATTGCTTGAGCCCAGTAGGTTGAGGCTGCAGTGAGCTGTGTTTGCGCCACTCCAGCCTGGGCAACAGAGAGAGACCTTGTCTCACAAAAAAAAAAAAAAAAAAGGGAAGGAAGGGCTGTACCAGATGACCTCTGACCTGCTTTCCAACTTTTTGATTTCATAACCCAGGCATTATCTCACTCAGCTGTAAGTGCCTGCAAGGTGCTGGGAATTTGGCGAAGAATGAACCTGTTCTGTACCCTCAAGGGCCACCTCATTTCCTACTAGGCCTCATTCCCAGCAGACTCCTGGAGTCCTTCCCTTGAACACAGATGTCCCACATTCCTGCTCTCTGCCCATTCATTCCCTGGAGTTCTGGGGCTGGGGGCTGGGATTGGACACCAGCCCTTTGTCTAAGGGTCAATCATGGCCTCTATGTGGCAGTGGAGGTCCTGATAGGGCAAGAGGGGGCCGGCACTCTCTTGCCTTATCAGGACTTTAGCCCCTGGATCTGTCCCTCCAGGTCACCCCTTCCTTGTCTGGCCTCCCTGTGCCTCTCTCCCAGAGACCAGGCCTTGACAGCTCCACAAAGCCGTTACACATGAGCTGGCTGTGCTGGCTCGTCTTTATTCCTGCAGCGCCCCGTTTCCCTGGCCACCCCTCCGTCTCCCACTGGAGATTTATTTCCTCGAGTTCCCACACATCAGCCTGGAGAGATGGGAAGAACCTCTGGGGATGGATGGGTTTGGAAACGCTGGAGCCACTGGGCCCAACTAGGAGCCTGAGACCTGGGCCCTGTTGTCCCTGGAGACTTCAGGTCCATCTACGCCCTCCACTCTGGTCCCACAGGGTCAGAACCCTGCCCAGTCCCCTCACCCATTTGTGTCCTTGGACTTCTGGGAAGCAGACAGCCCTCCTCTCCCCCCCTGCCACCCACTGTCCATGCCTGGGCATCCCCTGATCCCCTTTCCTGGGCACAGGCTGAATAGAGCCTTGTTCTCCACCGCCGGTGGCGCCACACAGCAAGGGCAGCCCCTAGGGGGCTGTGCTGCTTTTATCCCAAGATGCCAGGCTGTCAGGCTGGGGTGCAATGCAAGCCCCCTGCTCAATGGGCTTCTCGGAAGGCATTTGAGGGGGGCTGGGGTGCGGCGGGAAGCAGGCACTGTGCCCACCCCGAACATTGTGTCTGTGCCAAGGTGAGTCATTCACTGGGCATGAAGAGGAGGCCCTGGGGGGCGGCCAGCCCAATGCTGCCAGGTCTGCTTGCAGACAAGGCCTGGCTGTCTGCCTCCTCCCCAGCTCACAGAGCCAGCTCAGGCCCCCGAGCCTCTGTCAGAGCAGCGTCCCCTACTCCACACCAGGATATGTTCTTTTTTTTTTTTTTTTTTTTTTTGTCTTTTGAGACAGGGTCT
Task1_train_24782
This alteration occurs within gene GFAP (glial fibrillary acidic protein) located on Chromosome 17. Is it associated with a disease or is it a benign variant?
Pathogenic; not provided
ATTCTCTTGTACAGAGCAAGAAGGGCTGCCTGGAGGAGGCAGGCTGGCCCACAGGCAGGGCTACCTTGGAGCGGTACCACTCTTCGGCTTCATGCATGTTGCTGGACGCCATTGCCTCATACTGCGTGCGGATCTCTTTCAGGGCTGCGGTGAGGTCTGGCTTGGCCACGTCAAGCTCCACATGGACCTGCTGTCGGGCCAGCTGCTCCTGGAGTTCCCGAACCTCCTGACCAGGGTGAGAGAAGCGGTACCAGGGCTCAGGGTACAGGCCACAGCTGGGGTTCCCCACGCCATTGTGTCCTCTTCTGCCTGCCCCTCGGCCAGGAGTTCGAATGCTCTCTTGTCTCTTTCCGTCTCCCTTAGTGTCTTTCTGTTTGTCTTTCATTTCCTGTCTCTACCTGCCAATCTCTGTTTCTCTCCTCTCTCTGAGTGTCTCTCTCAGTCTCAGCTTCTCTGTCTCTGTCTCTCCCTCTCTCAGTTGCAATCTCTGTGTTGAGCTTTCCTCCCTCTGCCCTGGCCTCACCTCCTCGTGGATCTTCCTCAAGAACCGGATCTCCTCCTCCAGCGACTCAATCTTCCTCTCCAGATCCAGACGGGCCAGGGTGGCTTCATCTGCTTCCTGGAGTGGCAGGAGGGGTGAGGAGTAGAGGGCCACTGGGGCCCCAGGCTCCTTCTCCCCATTCCTCAGCCTTGCCTTACCCCTCCTTCTGGGGCAGTGGGGAGCAGCACATTGCTCTGGCGGGCTGAGCTTGGGGGCTGTGTTTGGGTGGGTGGCCATCAATCCTTTCCTCCCTCCCCTGCCCCTCCCCTCCACCTCCCTGACCTGTCTATAGGCAGCCAGGTTGTTCTCGGCTTCCAGCCTCAGGTTGGTTTCATCCTGGAGCCTGGAGTGGGGGGACACATTCCTGGGTCCAGGCTCTTCTGAGGACACTTGAATACCTGCCTCAGTCTCCCTTGAGGCAGCTGTCACAGAGACCACCCCCACCCAGGACCAGTAGAGCAGCAGGAGGATTAAGGGTTGGGGGGCCTTAGACAGAGGACTTGTCTGGAGGATGAGCAGATGTGGGCTTTTGCCTTAACTCATTACTAAGGTGCCTTATCAGGGTTGGTGCACCTGCTTCTGCTCACACAGGCGCATCCACAAGCATACACTCACTGTTGCACACACACACACACACACGCACATGTCCTCCTGCACTTGAAGGCACACATGCATGTCCTGTCAGCTCAGTGAAGCGCCATGCCCCTGGGGATTCCTCTGATCCCAGGTAACCACCTTTTGAAATGAATTTTATTATGACCACCGCTTCACAGCTGTGCAAGTCAAAGTAACTTGATGGGGGTCACAAGCTGGTGGCAGGCAGTCACCTGTGCTTTGCGCCCAGACCTGCCTGCTCTTTCCCTCACTTTCTTCACCCCAGAATCCAATCTCCCTCATGGACATCAACCTTCTCCGCTTCCAACTCCTCCTTTATATGGACACAGGCTCAGAATAGGTGAGCTCGCTGCCCACAGTCACAAAGCCCAGCCATGAATGAAACACAGGGGCCCCGCTGCTCCTGCACTGCTTTCCCCAGTAGGGAGGTGCTGAGGGGACCCTGGACTCCTGGCAGAAGGCATGCGGGCATCAGATCCCCGGGGCCCTGGGCCTGTTTCTGGTCCCTCCCATCATGTTGGGGGGCAAGGATAGTGCCCCATCAAGAGGTAGGGAGGCCCAGGGAGCAGGGAGGTTCGGCCCCTCCCTGAGACTTCTCGGGCACTCCTTCTTGGGGATTCAGCCCCTTCTGCTCACAAGGCCCCCCTTCCCCATCCCCTCCTCACTTCTGCCTCACAGTGGCCAGGTCCTGTGCCAGATTGTCCCTCTCAACCTCCAGCCGGGCGCTGTTGGCGGTGAGTTGATCGAGCCGCAGCCGCAGCTCTCGCAGCTCAGCCTGGTAGACGTCTGCCAGCTTGGTGGGCTCCTTGGCCCGCAGCTGGTTCAGCTCAGCAGCCAGCGCCTTGTTTTGCTGTTCCAGGAAGCGAACCTTCTCGATGTAGCTGGCAAAGCGGTCATTGAGCTCCATCATCTCTGCCCGCTCACTGGCCCGGGTCTCCTTGAAGCCAGCATTGAGTGCCCCAGCCAGGGAGAAATCCACCCGGGTCGGGAGTGGAGGGGGCATTCGAGCCAGGGAGAGGCGGGTGCCAGGACCCAGACGGCGGCCAGGAGCCAGGCCCCCCACCATCATCTCCCCTGAGGAGACGTAGGAGCGGCGAGCAGCGGAGGTGATGCGTCTCCTCTCCATCCTGCTCTGGCTCTGCTCGCTCCTGGGATGCGAGGGCTTTATGAAGGAGTGGGCTAGACTGGCGATGCCCGGGTGCCCCTGGCAACACCCCCTGGCATAGCCTGAGGGGGTGGGGTTGGGCCGCAGCCCAGCTATGGGGAGAGCTCCCCTCACCCCACTGAGGTCACTGTGCCCAGAGGCAGAGCTTCCTGGGCACGCCAACTCCTGCATGAGGCAGGTGGTACCTGGAGCCAGACCATGGGTCTGGGGCCCTGACCGCTGAAGCAAGAGGACCCTCTCTCTAGGAAGGTGGGTCAAGAAAGGGTTGGTTGGACCATGATGAATACTTACAATTATTATGCATCAATTAAAAAGGAAGGAAAGGGCTGAGTGGGGTGGCTCATGCTTGTAATCCCAGCACTTTGGGAGGCTGAGGCTGGAGGATTGCTTGAGCCCAGTAGGTTGAGGCTGCAGTGAGCTGTGTTTGCGCCACTCCAGCCTGGGCAACAGAGAGAGACCTTGTCTCACAAAAAAAAAAAAAAAAAAGGGAAGGAAGGGCTGTACCAGATGACCTCTGACCTGCTTTCCAACTTTTTGATTTCATAACCCAGGCATTATCTCACTCAGCTGTAAGTGCCTGCAAGGTGCTGGGAATTTGGCGAAGAATGAACCTGTTCTGTACCCTCAAGGGCCACCTCATTTCCTACTAGGCCTCATTCCCAGCAGACTCCTGGAGTCCTTCCCTTGAACACAGATGTCCCACATTCCTGCTCTCTGCCCATTCATTCCCTGGAGTTCTGGGGCTGGGGGCTGGGATTGGACACCAGCCCTTTGTCTAAGGGTCAATCATGGCCTCTATGTGGCAGTGGAGGTCCTGATAGGGCAAGAGGGGGCCGGCACTCTCTTGCCTTATCAGGACTTTAGCCCCTGGATCTGTCCCTCCAGGTCACCCCTTCCTTGTCTGGCCTCCCTGTGCCTCTCTCCCAGAGACCAGGCCTTGACAGCTCCACAAAGCCGTTACACATGAGCTGGCTGTGCTGGCTCGTCTTTATTCCTGCAGCGCCCCGTTTCCCTGGCCACCCCTCCGTCTCCCACTGGAGATTTATTTCCTCGAGTTCCCACACATCAGCCTGGAGAGATGGGAAGAACCTCTGGGGATGGATGGGTTTGGAAACGCTGGAGCCACTGGGCCCAACTAGGAGCCTGAGACCTGGGCCCTGTTGTCCCTGGAGACTTCAGGTCCATCTACGCCCTCCACTCTGGTCCCACAGGGTCAGAACCCTGCCCAGTCCCCTCACCCATTTGTGTCCTTGGACTTCTGGGAAGCAGACAGCCCTCCTCTCCCCCCCTGCCACCCACTGTCCATGCCTGGGCATCCCCTGATCCCCTTTCCTGGGCACAGGCTGAATAGAGCCTTGTTCTCCACCGCCGGTGGCGCCACACAGCAAGGGCAGCCCCTAGGGGGCTGTGCTGCTTTTATCCCAAGATGCCAGGCTGTCAGGCTGGGGTGCAATGCAAGCCCCCTGCTCAATGGGCTTCTCGGAAGGCATTTGAGGGGGGCTGGGGTGCGGCGGGAAGCAGGCACTGTGCCCACCCCGAACATTGTGTCTGTGCCAAGGTGAGTCATTCACTGGGCATGAAGAGGAGGCCCTGGGGGGCGGCCAGCCCAATGCTGCCAGGTCTGCTTGCAGACAAGGCCTGGCTGTCTGCCTCCTCCCCAGCTCACAGAGCCAGCTCAGGCCCCCGAGCCTCTGTCAGAGCAGCGTCCCCTACTCCACACCAGGATATGTTCTTTTTTTTTTTTTTTTTTTTTTTGTCTTTTGAGACAGGGTCTC
ATTCTCTTGTACAGAGCAAGAAGGGCTGCCTGGAGGAGGCAGGCTGGCCCACAGGCAGGGCTACCTTGGAGCGGTACCACTCTTCGGCTTCATGCATGTTGCTGGACGCCATTGCCTCATACTGCGTGCGGATCTCTTTCAGGGCTGCGGTGAGGTCTGGCTTGGCCACGTCAAGCTCCACATGGACCTGCTGTCGGGCCAGCTGCTCCTGGAGTTCCCGAACCTCCTGACCAGGGTGAGAGAAGCGGTACCAGGGCTCAGGGTACAGGCCACAGCTGGGGTTCCCCACGCCATTGTGTCCTCTTCTGCCTGCCCCTCGGCCAGGAGTTCGAATGCTCTCTTGTCTCTTTCCGTCTCCCTTAGTGTCTTTCTGTTTGTCTTTCATTTCCTGTCTCTACCTGCCAATCTCTGTTTCTCTCCTCTCTCTGAGTGTCTCTCTCAGTCTCAGCTTCTCTGTCTCTGTCTCTCCCTCTCTCAGTTGCAATCTCTGTGTTGAGCTTTCCTCCCTCTGCCCTGGCCTCACCTCCTCGTGGATCTTCCTCAAGAACCGGATCTCCTCCTCCAGCGACTCAATCTTCCTCTCCAGATCCAGACGGGCCAGGGTGGCTTCATCTGCTTCCTGGAGTGGCAGGAGGGGTGAGGAGTAGAGGGCCACTGGGGCCCCAGGCTCCTTCTCCCCATTCCTCAGCCTTGCCTTACCCCTCCTTCTGGGGCAGTGGGGAGCAGCACATTGCTCTGGCGGGCTGAGCTTGGGGGCTGTGTTTGGGTGGGTGGCCATCAATCCTTTCCTCCCTCCCCTGCCCCTCCCCTCCACCTCCCTGACCTGTCTATAGGCAGCCAGGTTGTTCTCGGCTTCCAGCCTCAGGTTGGTTTCATCCTGGAGCCTGGAGTGGGGGGACACATTCCTGGGTCCAGGCTCTTCTGAGGACACTTGAATACCTGCCTCAGTCTCCCTTGAGGCAGCTGTCACAGAGACCACCCCCACCCAGGACCAGTAGAGCAGCAGGAGGATTAAGGGTTGGGGGGCCTTAGACAGAGGACTTGTCTGGAGGATGAGCAGATGTGGGCTTTTGCCTTAACTCATTACTAAGGTGCCTTATCAGGGTTGGTGCACCTGCTTCTGCTCACACAGGCGCATCCACAAGCATACACTCACTGTTGCACACACACACACACACACGCACATGTCCTCCTGCACTTGAAGGCACACATGCATGTCCTGTCAGCTCAGTGAAGCGCCATGCCCCTGGGGATTCCTCTGATCCCAGGTAACCACCTTTTGAAATGAATTTTATTATGACCACCGCTTCACAGCTGTGCAAGTCAAAGTAACTTGATGGGGGTCACAAGCTGGTGGCAGGCAGTCACCTGTGCTTTGCGCCCAGACCTGCCTGCTCTTTCCCTCACTTTCTTCACCCCAGAATCCAATCTCCCTCATGGACATCAACCTTCTCCGCTTCCAACTCCTCCTTTATATGGACACAGGCTCAGAATAGGTGAGCTCGCTGCCCACAGTCACAAAGCCCAGCCATGAATGAAACACAGGGGCCCCGCTGCTCCTGCACTGCTTTCCCCAGTAGGGAGGTGCTGAGGGGACCCTGGACTCCTGGCAGAAGGCATGCGGGCATCAGATCCCCGGGGCCCTGGGCCTGTTTCTGGTCCCTCCCATCATGTTGGGGGGCAAGGATAGTGCCCCATCAAGAGGTAGGGAGGCCCAGGGAGCAGGGAGGTTCGGCCCCTCCCTGAGACTTCTCGGGCACTCCTTCTTGGGGATTCAGCCCCTTCTGCTCACAAGGCCCCCCTTCCCCATCCCCTCCTCACTTCTGCCTCACAGTGGCCAGGTCCTGTGCCAGATTGTCCCTCTCAACCTCCAGCCGGGCGCTGTTGGCGGTGAGTTGATCGAGCCGCAGCCGCAGCTCTCGCAGCTCAGCCTGGTAGACGTCTGCCAGCTTGGTGGGCTCCTTGGCCCGCAGCTGGTTCAGCTCAGCAGCCAGCGCCTTGTTTTGCTGTTCCAGGAAGCGAACCTTCTCGATGTAGCTGGCAAAGCGTTCATTGAGCTCCATCATCTCTGCCCGCTCACTGGCCCGGGTCTCCTTGAAGCCAGCATTGAGTGCCCCAGCCAGGGAGAAATCCACCCGGGTCGGGAGTGGAGGGGGCATTCGAGCCAGGGAGAGGCGGGTGCCAGGACCCAGACGGCGGCCAGGAGCCAGGCCCCCCACCATCATCTCCCCTGAGGAGACGTAGGAGCGGCGAGCAGCGGAGGTGATGCGTCTCCTCTCCATCCTGCTCTGGCTCTGCTCGCTCCTGGGATGCGAGGGCTTTATGAAGGAGTGGGCTAGACTGGCGATGCCCGGGTGCCCCTGGCAACACCCCCTGGCATAGCCTGAGGGGGTGGGGTTGGGCCGCAGCCCAGCTATGGGGAGAGCTCCCCTCACCCCACTGAGGTCACTGTGCCCAGAGGCAGAGCTTCCTGGGCACGCCAACTCCTGCATGAGGCAGGTGGTACCTGGAGCCAGACCATGGGTCTGGGGCCCTGACCGCTGAAGCAAGAGGACCCTCTCTCTAGGAAGGTGGGTCAAGAAAGGGTTGGTTGGACCATGATGAATACTTACAATTATTATGCATCAATTAAAAAGGAAGGAAAGGGCTGAGTGGGGTGGCTCATGCTTGTAATCCCAGCACTTTGGGAGGCTGAGGCTGGAGGATTGCTTGAGCCCAGTAGGTTGAGGCTGCAGTGAGCTGTGTTTGCGCCACTCCAGCCTGGGCAACAGAGAGAGACCTTGTCTCACAAAAAAAAAAAAAAAAAAGGGAAGGAAGGGCTGTACCAGATGACCTCTGACCTGCTTTCCAACTTTTTGATTTCATAACCCAGGCATTATCTCACTCAGCTGTAAGTGCCTGCAAGGTGCTGGGAATTTGGCGAAGAATGAACCTGTTCTGTACCCTCAAGGGCCACCTCATTTCCTACTAGGCCTCATTCCCAGCAGACTCCTGGAGTCCTTCCCTTGAACACAGATGTCCCACATTCCTGCTCTCTGCCCATTCATTCCCTGGAGTTCTGGGGCTGGGGGCTGGGATTGGACACCAGCCCTTTGTCTAAGGGTCAATCATGGCCTCTATGTGGCAGTGGAGGTCCTGATAGGGCAAGAGGGGGCCGGCACTCTCTTGCCTTATCAGGACTTTAGCCCCTGGATCTGTCCCTCCAGGTCACCCCTTCCTTGTCTGGCCTCCCTGTGCCTCTCTCCCAGAGACCAGGCCTTGACAGCTCCACAAAGCCGTTACACATGAGCTGGCTGTGCTGGCTCGTCTTTATTCCTGCAGCGCCCCGTTTCCCTGGCCACCCCTCCGTCTCCCACTGGAGATTTATTTCCTCGAGTTCCCACACATCAGCCTGGAGAGATGGGAAGAACCTCTGGGGATGGATGGGTTTGGAAACGCTGGAGCCACTGGGCCCAACTAGGAGCCTGAGACCTGGGCCCTGTTGTCCCTGGAGACTTCAGGTCCATCTACGCCCTCCACTCTGGTCCCACAGGGTCAGAACCCTGCCCAGTCCCCTCACCCATTTGTGTCCTTGGACTTCTGGGAAGCAGACAGCCCTCCTCTCCCCCCCTGCCACCCACTGTCCATGCCTGGGCATCCCCTGATCCCCTTTCCTGGGCACAGGCTGAATAGAGCCTTGTTCTCCACCGCCGGTGGCGCCACACAGCAAGGGCAGCCCCTAGGGGGCTGTGCTGCTTTTATCCCAAGATGCCAGGCTGTCAGGCTGGGGTGCAATGCAAGCCCCCTGCTCAATGGGCTTCTCGGAAGGCATTTGAGGGGGGCTGGGGTGCGGCGGGAAGCAGGCACTGTGCCCACCCCGAACATTGTGTCTGTGCCAAGGTGAGTCATTCACTGGGCATGAAGAGGAGGCCCTGGGGGGCGGCCAGCCCAATGCTGCCAGGTCTGCTTGCAGACAAGGCCTGGCTGTCTGCCTCCTCCCCAGCTCACAGAGCCAGCTCAGGCCCCCGAGCCTCTGTCAGAGCAGCGTCCCCTACTCCACACCAGGATATGTTCTTTTTTTTTTTTTTTTTTTTTTTGTCTTTTGAGACAGGGTCTC
Task1_train_24783
This genomic variant is located on Chromosome 17, within the GFAP (glial fibrillary acidic protein) gene. Can you determine its pathogenicity and name any linked disease?
Pathogenic; not provided
TCTCTTGTACAGAGCAAGAAGGGCTGCCTGGAGGAGGCAGGCTGGCCCACAGGCAGGGCTACCTTGGAGCGGTACCACTCTTCGGCTTCATGCATGTTGCTGGACGCCATTGCCTCATACTGCGTGCGGATCTCTTTCAGGGCTGCGGTGAGGTCTGGCTTGGCCACGTCAAGCTCCACATGGACCTGCTGTCGGGCCAGCTGCTCCTGGAGTTCCCGAACCTCCTGACCAGGGTGAGAGAAGCGGTACCAGGGCTCAGGGTACAGGCCACAGCTGGGGTTCCCCACGCCATTGTGTCCTCTTCTGCCTGCCCCTCGGCCAGGAGTTCGAATGCTCTCTTGTCTCTTTCCGTCTCCCTTAGTGTCTTTCTGTTTGTCTTTCATTTCCTGTCTCTACCTGCCAATCTCTGTTTCTCTCCTCTCTCTGAGTGTCTCTCTCAGTCTCAGCTTCTCTGTCTCTGTCTCTCCCTCTCTCAGTTGCAATCTCTGTGTTGAGCTTTCCTCCCTCTGCCCTGGCCTCACCTCCTCGTGGATCTTCCTCAAGAACCGGATCTCCTCCTCCAGCGACTCAATCTTCCTCTCCAGATCCAGACGGGCCAGGGTGGCTTCATCTGCTTCCTGGAGTGGCAGGAGGGGTGAGGAGTAGAGGGCCACTGGGGCCCCAGGCTCCTTCTCCCCATTCCTCAGCCTTGCCTTACCCCTCCTTCTGGGGCAGTGGGGAGCAGCACATTGCTCTGGCGGGCTGAGCTTGGGGGCTGTGTTTGGGTGGGTGGCCATCAATCCTTTCCTCCCTCCCCTGCCCCTCCCCTCCACCTCCCTGACCTGTCTATAGGCAGCCAGGTTGTTCTCGGCTTCCAGCCTCAGGTTGGTTTCATCCTGGAGCCTGGAGTGGGGGGACACATTCCTGGGTCCAGGCTCTTCTGAGGACACTTGAATACCTGCCTCAGTCTCCCTTGAGGCAGCTGTCACAGAGACCACCCCCACCCAGGACCAGTAGAGCAGCAGGAGGATTAAGGGTTGGGGGGCCTTAGACAGAGGACTTGTCTGGAGGATGAGCAGATGTGGGCTTTTGCCTTAACTCATTACTAAGGTGCCTTATCAGGGTTGGTGCACCTGCTTCTGCTCACACAGGCGCATCCACAAGCATACACTCACTGTTGCACACACACACACACACACGCACATGTCCTCCTGCACTTGAAGGCACACATGCATGTCCTGTCAGCTCAGTGAAGCGCCATGCCCCTGGGGATTCCTCTGATCCCAGGTAACCACCTTTTGAAATGAATTTTATTATGACCACCGCTTCACAGCTGTGCAAGTCAAAGTAACTTGATGGGGGTCACAAGCTGGTGGCAGGCAGTCACCTGTGCTTTGCGCCCAGACCTGCCTGCTCTTTCCCTCACTTTCTTCACCCCAGAATCCAATCTCCCTCATGGACATCAACCTTCTCCGCTTCCAACTCCTCCTTTATATGGACACAGGCTCAGAATAGGTGAGCTCGCTGCCCACAGTCACAAAGCCCAGCCATGAATGAAACACAGGGGCCCCGCTGCTCCTGCACTGCTTTCCCCAGTAGGGAGGTGCTGAGGGGACCCTGGACTCCTGGCAGAAGGCATGCGGGCATCAGATCCCCGGGGCCCTGGGCCTGTTTCTGGTCCCTCCCATCATGTTGGGGGGCAAGGATAGTGCCCCATCAAGAGGTAGGGAGGCCCAGGGAGCAGGGAGGTTCGGCCCCTCCCTGAGACTTCTCGGGCACTCCTTCTTGGGGATTCAGCCCCTTCTGCTCACAAGGCCCCCCTTCCCCATCCCCTCCTCACTTCTGCCTCACAGTGGCCAGGTCCTGTGCCAGATTGTCCCTCTCAACCTCCAGCCGGGCGCTGTTGGCGGTGAGTTGATCGAGCCGCAGCCGCAGCTCTCGCAGCTCAGCCTGGTAGACGTCTGCCAGCTTGGTGGGCTCCTTGGCCCGCAGCTGGTTCAGCTCAGCAGCCAGCGCCTTGTTTTGCTGTTCCAGGAAGCGAACCTTCTCGATGTAGCTGGCAAAGCGGTCATTGAGCTCCATCATCTCTGCCCGCTCACTGGCCCGGGTCTCCTTGAAGCCAGCATTGAGTGCCCCAGCCAGGGAGAAATCCACCCGGGTCGGGAGTGGAGGGGGCATTCGAGCCAGGGAGAGGCGGGTGCCAGGACCCAGACGGCGGCCAGGAGCCAGGCCCCCCACCATCATCTCCCCTGAGGAGACGTAGGAGCGGCGAGCAGCGGAGGTGATGCGTCTCCTCTCCATCCTGCTCTGGCTCTGCTCGCTCCTGGGATGCGAGGGCTTTATGAAGGAGTGGGCTAGACTGGCGATGCCCGGGTGCCCCTGGCAACACCCCCTGGCATAGCCTGAGGGGGTGGGGTTGGGCCGCAGCCCAGCTATGGGGAGAGCTCCCCTCACCCCACTGAGGTCACTGTGCCCAGAGGCAGAGCTTCCTGGGCACGCCAACTCCTGCATGAGGCAGGTGGTACCTGGAGCCAGACCATGGGTCTGGGGCCCTGACCGCTGAAGCAAGAGGACCCTCTCTCTAGGAAGGTGGGTCAAGAAAGGGTTGGTTGGACCATGATGAATACTTACAATTATTATGCATCAATTAAAAAGGAAGGAAAGGGCTGAGTGGGGTGGCTCATGCTTGTAATCCCAGCACTTTGGGAGGCTGAGGCTGGAGGATTGCTTGAGCCCAGTAGGTTGAGGCTGCAGTGAGCTGTGTTTGCGCCACTCCAGCCTGGGCAACAGAGAGAGACCTTGTCTCACAAAAAAAAAAAAAAAAAAGGGAAGGAAGGGCTGTACCAGATGACCTCTGACCTGCTTTCCAACTTTTTGATTTCATAACCCAGGCATTATCTCACTCAGCTGTAAGTGCCTGCAAGGTGCTGGGAATTTGGCGAAGAATGAACCTGTTCTGTACCCTCAAGGGCCACCTCATTTCCTACTAGGCCTCATTCCCAGCAGACTCCTGGAGTCCTTCCCTTGAACACAGATGTCCCACATTCCTGCTCTCTGCCCATTCATTCCCTGGAGTTCTGGGGCTGGGGGCTGGGATTGGACACCAGCCCTTTGTCTAAGGGTCAATCATGGCCTCTATGTGGCAGTGGAGGTCCTGATAGGGCAAGAGGGGGCCGGCACTCTCTTGCCTTATCAGGACTTTAGCCCCTGGATCTGTCCCTCCAGGTCACCCCTTCCTTGTCTGGCCTCCCTGTGCCTCTCTCCCAGAGACCAGGCCTTGACAGCTCCACAAAGCCGTTACACATGAGCTGGCTGTGCTGGCTCGTCTTTATTCCTGCAGCGCCCCGTTTCCCTGGCCACCCCTCCGTCTCCCACTGGAGATTTATTTCCTCGAGTTCCCACACATCAGCCTGGAGAGATGGGAAGAACCTCTGGGGATGGATGGGTTTGGAAACGCTGGAGCCACTGGGCCCAACTAGGAGCCTGAGACCTGGGCCCTGTTGTCCCTGGAGACTTCAGGTCCATCTACGCCCTCCACTCTGGTCCCACAGGGTCAGAACCCTGCCCAGTCCCCTCACCCATTTGTGTCCTTGGACTTCTGGGAAGCAGACAGCCCTCCTCTCCCCCCCTGCCACCCACTGTCCATGCCTGGGCATCCCCTGATCCCCTTTCCTGGGCACAGGCTGAATAGAGCCTTGTTCTCCACCGCCGGTGGCGCCACACAGCAAGGGCAGCCCCTAGGGGGCTGTGCTGCTTTTATCCCAAGATGCCAGGCTGTCAGGCTGGGGTGCAATGCAAGCCCCCTGCTCAATGGGCTTCTCGGAAGGCATTTGAGGGGGGCTGGGGTGCGGCGGGAAGCAGGCACTGTGCCCACCCCGAACATTGTGTCTGTGCCAAGGTGAGTCATTCACTGGGCATGAAGAGGAGGCCCTGGGGGGCGGCCAGCCCAATGCTGCCAGGTCTGCTTGCAGACAAGGCCTGGCTGTCTGCCTCCTCCCCAGCTCACAGAGCCAGCTCAGGCCCCCGAGCCTCTGTCAGAGCAGCGTCCCCTACTCCACACCAGGATATGTTCTTTTTTTTTTTTTTTTTTTTTTTGTCTTTTGAGACAGGGTCTCAC
TCTCTTGTACAGAGCAAGAAGGGCTGCCTGGAGGAGGCAGGCTGGCCCACAGGCAGGGCTACCTTGGAGCGGTACCACTCTTCGGCTTCATGCATGTTGCTGGACGCCATTGCCTCATACTGCGTGCGGATCTCTTTCAGGGCTGCGGTGAGGTCTGGCTTGGCCACGTCAAGCTCCACATGGACCTGCTGTCGGGCCAGCTGCTCCTGGAGTTCCCGAACCTCCTGACCAGGGTGAGAGAAGCGGTACCAGGGCTCAGGGTACAGGCCACAGCTGGGGTTCCCCACGCCATTGTGTCCTCTTCTGCCTGCCCCTCGGCCAGGAGTTCGAATGCTCTCTTGTCTCTTTCCGTCTCCCTTAGTGTCTTTCTGTTTGTCTTTCATTTCCTGTCTCTACCTGCCAATCTCTGTTTCTCTCCTCTCTCTGAGTGTCTCTCTCAGTCTCAGCTTCTCTGTCTCTGTCTCTCCCTCTCTCAGTTGCAATCTCTGTGTTGAGCTTTCCTCCCTCTGCCCTGGCCTCACCTCCTCGTGGATCTTCCTCAAGAACCGGATCTCCTCCTCCAGCGACTCAATCTTCCTCTCCAGATCCAGACGGGCCAGGGTGGCTTCATCTGCTTCCTGGAGTGGCAGGAGGGGTGAGGAGTAGAGGGCCACTGGGGCCCCAGGCTCCTTCTCCCCATTCCTCAGCCTTGCCTTACCCCTCCTTCTGGGGCAGTGGGGAGCAGCACATTGCTCTGGCGGGCTGAGCTTGGGGGCTGTGTTTGGGTGGGTGGCCATCAATCCTTTCCTCCCTCCCCTGCCCCTCCCCTCCACCTCCCTGACCTGTCTATAGGCAGCCAGGTTGTTCTCGGCTTCCAGCCTCAGGTTGGTTTCATCCTGGAGCCTGGAGTGGGGGGACACATTCCTGGGTCCAGGCTCTTCTGAGGACACTTGAATACCTGCCTCAGTCTCCCTTGAGGCAGCTGTCACAGAGACCACCCCCACCCAGGACCAGTAGAGCAGCAGGAGGATTAAGGGTTGGGGGGCCTTAGACAGAGGACTTGTCTGGAGGATGAGCAGATGTGGGCTTTTGCCTTAACTCATTACTAAGGTGCCTTATCAGGGTTGGTGCACCTGCTTCTGCTCACACAGGCGCATCCACAAGCATACACTCACTGTTGCACACACACACACACACACGCACATGTCCTCCTGCACTTGAAGGCACACATGCATGTCCTGTCAGCTCAGTGAAGCGCCATGCCCCTGGGGATTCCTCTGATCCCAGGTAACCACCTTTTGAAATGAATTTTATTATGACCACCGCTTCACAGCTGTGCAAGTCAAAGTAACTTGATGGGGGTCACAAGCTGGTGGCAGGCAGTCACCTGTGCTTTGCGCCCAGACCTGCCTGCTCTTTCCCTCACTTTCTTCACCCCAGAATCCAATCTCCCTCATGGACATCAACCTTCTCCGCTTCCAACTCCTCCTTTATATGGACACAGGCTCAGAATAGGTGAGCTCGCTGCCCACAGTCACAAAGCCCAGCCATGAATGAAACACAGGGGCCCCGCTGCTCCTGCACTGCTTTCCCCAGTAGGGAGGTGCTGAGGGGACCCTGGACTCCTGGCAGAAGGCATGCGGGCATCAGATCCCCGGGGCCCTGGGCCTGTTTCTGGTCCCTCCCATCATGTTGGGGGGCAAGGATAGTGCCCCATCAAGAGGTAGGGAGGCCCAGGGAGCAGGGAGGTTCGGCCCCTCCCTGAGACTTCTCGGGCACTCCTTCTTGGGGATTCAGCCCCTTCTGCTCACAAGGCCCCCCTTCCCCATCCCCTCCTCACTTCTGCCTCACAGTGGCCAGGTCCTGTGCCAGATTGTCCCTCTCAACCTCCAGCCGGGCGCTGTTGGCGGTGAGTTGATCGAGCCGCAGCCGCAGCTCTCGCAGCTCAGCCTGGTAGACGTCTGCCAGCTTGGTGGGCTCCTTGGCCCGCAGCTGGTTCAGCTCAGCAGCCAGCGCCTTGTTTTGCTGTTCCAGGAAGCGAACCTTCTCGATGTAGCTGGCAAAGCGGTAATTGAGCTCCATCATCTCTGCCCGCTCACTGGCCCGGGTCTCCTTGAAGCCAGCATTGAGTGCCCCAGCCAGGGAGAAATCCACCCGGGTCGGGAGTGGAGGGGGCATTCGAGCCAGGGAGAGGCGGGTGCCAGGACCCAGACGGCGGCCAGGAGCCAGGCCCCCCACCATCATCTCCCCTGAGGAGACGTAGGAGCGGCGAGCAGCGGAGGTGATGCGTCTCCTCTCCATCCTGCTCTGGCTCTGCTCGCTCCTGGGATGCGAGGGCTTTATGAAGGAGTGGGCTAGACTGGCGATGCCCGGGTGCCCCTGGCAACACCCCCTGGCATAGCCTGAGGGGGTGGGGTTGGGCCGCAGCCCAGCTATGGGGAGAGCTCCCCTCACCCCACTGAGGTCACTGTGCCCAGAGGCAGAGCTTCCTGGGCACGCCAACTCCTGCATGAGGCAGGTGGTACCTGGAGCCAGACCATGGGTCTGGGGCCCTGACCGCTGAAGCAAGAGGACCCTCTCTCTAGGAAGGTGGGTCAAGAAAGGGTTGGTTGGACCATGATGAATACTTACAATTATTATGCATCAATTAAAAAGGAAGGAAAGGGCTGAGTGGGGTGGCTCATGCTTGTAATCCCAGCACTTTGGGAGGCTGAGGCTGGAGGATTGCTTGAGCCCAGTAGGTTGAGGCTGCAGTGAGCTGTGTTTGCGCCACTCCAGCCTGGGCAACAGAGAGAGACCTTGTCTCACAAAAAAAAAAAAAAAAAAGGGAAGGAAGGGCTGTACCAGATGACCTCTGACCTGCTTTCCAACTTTTTGATTTCATAACCCAGGCATTATCTCACTCAGCTGTAAGTGCCTGCAAGGTGCTGGGAATTTGGCGAAGAATGAACCTGTTCTGTACCCTCAAGGGCCACCTCATTTCCTACTAGGCCTCATTCCCAGCAGACTCCTGGAGTCCTTCCCTTGAACACAGATGTCCCACATTCCTGCTCTCTGCCCATTCATTCCCTGGAGTTCTGGGGCTGGGGGCTGGGATTGGACACCAGCCCTTTGTCTAAGGGTCAATCATGGCCTCTATGTGGCAGTGGAGGTCCTGATAGGGCAAGAGGGGGCCGGCACTCTCTTGCCTTATCAGGACTTTAGCCCCTGGATCTGTCCCTCCAGGTCACCCCTTCCTTGTCTGGCCTCCCTGTGCCTCTCTCCCAGAGACCAGGCCTTGACAGCTCCACAAAGCCGTTACACATGAGCTGGCTGTGCTGGCTCGTCTTTATTCCTGCAGCGCCCCGTTTCCCTGGCCACCCCTCCGTCTCCCACTGGAGATTTATTTCCTCGAGTTCCCACACATCAGCCTGGAGAGATGGGAAGAACCTCTGGGGATGGATGGGTTTGGAAACGCTGGAGCCACTGGGCCCAACTAGGAGCCTGAGACCTGGGCCCTGTTGTCCCTGGAGACTTCAGGTCCATCTACGCCCTCCACTCTGGTCCCACAGGGTCAGAACCCTGCCCAGTCCCCTCACCCATTTGTGTCCTTGGACTTCTGGGAAGCAGACAGCCCTCCTCTCCCCCCCTGCCACCCACTGTCCATGCCTGGGCATCCCCTGATCCCCTTTCCTGGGCACAGGCTGAATAGAGCCTTGTTCTCCACCGCCGGTGGCGCCACACAGCAAGGGCAGCCCCTAGGGGGCTGTGCTGCTTTTATCCCAAGATGCCAGGCTGTCAGGCTGGGGTGCAATGCAAGCCCCCTGCTCAATGGGCTTCTCGGAAGGCATTTGAGGGGGGCTGGGGTGCGGCGGGAAGCAGGCACTGTGCCCACCCCGAACATTGTGTCTGTGCCAAGGTGAGTCATTCACTGGGCATGAAGAGGAGGCCCTGGGGGGCGGCCAGCCCAATGCTGCCAGGTCTGCTTGCAGACAAGGCCTGGCTGTCTGCCTCCTCCCCAGCTCACAGAGCCAGCTCAGGCCCCCGAGCCTCTGTCAGAGCAGCGTCCCCTACTCCACACCAGGATATGTTCTTTTTTTTTTTTTTTTTTTTTTTGTCTTTTGAGACAGGGTCTCAC
Task1_train_24784
A variant has been detected on Chromosome 17 in GFAP (glial fibrillary acidic protein). What is its effect — pathogenic or benign? If pathogenic, name the disease.
Pathogenic; not provided
TCTTGTACAGAGCAAGAAGGGCTGCCTGGAGGAGGCAGGCTGGCCCACAGGCAGGGCTACCTTGGAGCGGTACCACTCTTCGGCTTCATGCATGTTGCTGGACGCCATTGCCTCATACTGCGTGCGGATCTCTTTCAGGGCTGCGGTGAGGTCTGGCTTGGCCACGTCAAGCTCCACATGGACCTGCTGTCGGGCCAGCTGCTCCTGGAGTTCCCGAACCTCCTGACCAGGGTGAGAGAAGCGGTACCAGGGCTCAGGGTACAGGCCACAGCTGGGGTTCCCCACGCCATTGTGTCCTCTTCTGCCTGCCCCTCGGCCAGGAGTTCGAATGCTCTCTTGTCTCTTTCCGTCTCCCTTAGTGTCTTTCTGTTTGTCTTTCATTTCCTGTCTCTACCTGCCAATCTCTGTTTCTCTCCTCTCTCTGAGTGTCTCTCTCAGTCTCAGCTTCTCTGTCTCTGTCTCTCCCTCTCTCAGTTGCAATCTCTGTGTTGAGCTTTCCTCCCTCTGCCCTGGCCTCACCTCCTCGTGGATCTTCCTCAAGAACCGGATCTCCTCCTCCAGCGACTCAATCTTCCTCTCCAGATCCAGACGGGCCAGGGTGGCTTCATCTGCTTCCTGGAGTGGCAGGAGGGGTGAGGAGTAGAGGGCCACTGGGGCCCCAGGCTCCTTCTCCCCATTCCTCAGCCTTGCCTTACCCCTCCTTCTGGGGCAGTGGGGAGCAGCACATTGCTCTGGCGGGCTGAGCTTGGGGGCTGTGTTTGGGTGGGTGGCCATCAATCCTTTCCTCCCTCCCCTGCCCCTCCCCTCCACCTCCCTGACCTGTCTATAGGCAGCCAGGTTGTTCTCGGCTTCCAGCCTCAGGTTGGTTTCATCCTGGAGCCTGGAGTGGGGGGACACATTCCTGGGTCCAGGCTCTTCTGAGGACACTTGAATACCTGCCTCAGTCTCCCTTGAGGCAGCTGTCACAGAGACCACCCCCACCCAGGACCAGTAGAGCAGCAGGAGGATTAAGGGTTGGGGGGCCTTAGACAGAGGACTTGTCTGGAGGATGAGCAGATGTGGGCTTTTGCCTTAACTCATTACTAAGGTGCCTTATCAGGGTTGGTGCACCTGCTTCTGCTCACACAGGCGCATCCACAAGCATACACTCACTGTTGCACACACACACACACACACGCACATGTCCTCCTGCACTTGAAGGCACACATGCATGTCCTGTCAGCTCAGTGAAGCGCCATGCCCCTGGGGATTCCTCTGATCCCAGGTAACCACCTTTTGAAATGAATTTTATTATGACCACCGCTTCACAGCTGTGCAAGTCAAAGTAACTTGATGGGGGTCACAAGCTGGTGGCAGGCAGTCACCTGTGCTTTGCGCCCAGACCTGCCTGCTCTTTCCCTCACTTTCTTCACCCCAGAATCCAATCTCCCTCATGGACATCAACCTTCTCCGCTTCCAACTCCTCCTTTATATGGACACAGGCTCAGAATAGGTGAGCTCGCTGCCCACAGTCACAAAGCCCAGCCATGAATGAAACACAGGGGCCCCGCTGCTCCTGCACTGCTTTCCCCAGTAGGGAGGTGCTGAGGGGACCCTGGACTCCTGGCAGAAGGCATGCGGGCATCAGATCCCCGGGGCCCTGGGCCTGTTTCTGGTCCCTCCCATCATGTTGGGGGGCAAGGATAGTGCCCCATCAAGAGGTAGGGAGGCCCAGGGAGCAGGGAGGTTCGGCCCCTCCCTGAGACTTCTCGGGCACTCCTTCTTGGGGATTCAGCCCCTTCTGCTCACAAGGCCCCCCTTCCCCATCCCCTCCTCACTTCTGCCTCACAGTGGCCAGGTCCTGTGCCAGATTGTCCCTCTCAACCTCCAGCCGGGCGCTGTTGGCGGTGAGTTGATCGAGCCGCAGCCGCAGCTCTCGCAGCTCAGCCTGGTAGACGTCTGCCAGCTTGGTGGGCTCCTTGGCCCGCAGCTGGTTCAGCTCAGCAGCCAGCGCCTTGTTTTGCTGTTCCAGGAAGCGAACCTTCTCGATGTAGCTGGCAAAGCGGTCATTGAGCTCCATCATCTCTGCCCGCTCACTGGCCCGGGTCTCCTTGAAGCCAGCATTGAGTGCCCCAGCCAGGGAGAAATCCACCCGGGTCGGGAGTGGAGGGGGCATTCGAGCCAGGGAGAGGCGGGTGCCAGGACCCAGACGGCGGCCAGGAGCCAGGCCCCCCACCATCATCTCCCCTGAGGAGACGTAGGAGCGGCGAGCAGCGGAGGTGATGCGTCTCCTCTCCATCCTGCTCTGGCTCTGCTCGCTCCTGGGATGCGAGGGCTTTATGAAGGAGTGGGCTAGACTGGCGATGCCCGGGTGCCCCTGGCAACACCCCCTGGCATAGCCTGAGGGGGTGGGGTTGGGCCGCAGCCCAGCTATGGGGAGAGCTCCCCTCACCCCACTGAGGTCACTGTGCCCAGAGGCAGAGCTTCCTGGGCACGCCAACTCCTGCATGAGGCAGGTGGTACCTGGAGCCAGACCATGGGTCTGGGGCCCTGACCGCTGAAGCAAGAGGACCCTCTCTCTAGGAAGGTGGGTCAAGAAAGGGTTGGTTGGACCATGATGAATACTTACAATTATTATGCATCAATTAAAAAGGAAGGAAAGGGCTGAGTGGGGTGGCTCATGCTTGTAATCCCAGCACTTTGGGAGGCTGAGGCTGGAGGATTGCTTGAGCCCAGTAGGTTGAGGCTGCAGTGAGCTGTGTTTGCGCCACTCCAGCCTGGGCAACAGAGAGAGACCTTGTCTCACAAAAAAAAAAAAAAAAAAGGGAAGGAAGGGCTGTACCAGATGACCTCTGACCTGCTTTCCAACTTTTTGATTTCATAACCCAGGCATTATCTCACTCAGCTGTAAGTGCCTGCAAGGTGCTGGGAATTTGGCGAAGAATGAACCTGTTCTGTACCCTCAAGGGCCACCTCATTTCCTACTAGGCCTCATTCCCAGCAGACTCCTGGAGTCCTTCCCTTGAACACAGATGTCCCACATTCCTGCTCTCTGCCCATTCATTCCCTGGAGTTCTGGGGCTGGGGGCTGGGATTGGACACCAGCCCTTTGTCTAAGGGTCAATCATGGCCTCTATGTGGCAGTGGAGGTCCTGATAGGGCAAGAGGGGGCCGGCACTCTCTTGCCTTATCAGGACTTTAGCCCCTGGATCTGTCCCTCCAGGTCACCCCTTCCTTGTCTGGCCTCCCTGTGCCTCTCTCCCAGAGACCAGGCCTTGACAGCTCCACAAAGCCGTTACACATGAGCTGGCTGTGCTGGCTCGTCTTTATTCCTGCAGCGCCCCGTTTCCCTGGCCACCCCTCCGTCTCCCACTGGAGATTTATTTCCTCGAGTTCCCACACATCAGCCTGGAGAGATGGGAAGAACCTCTGGGGATGGATGGGTTTGGAAACGCTGGAGCCACTGGGCCCAACTAGGAGCCTGAGACCTGGGCCCTGTTGTCCCTGGAGACTTCAGGTCCATCTACGCCCTCCACTCTGGTCCCACAGGGTCAGAACCCTGCCCAGTCCCCTCACCCATTTGTGTCCTTGGACTTCTGGGAAGCAGACAGCCCTCCTCTCCCCCCCTGCCACCCACTGTCCATGCCTGGGCATCCCCTGATCCCCTTTCCTGGGCACAGGCTGAATAGAGCCTTGTTCTCCACCGCCGGTGGCGCCACACAGCAAGGGCAGCCCCTAGGGGGCTGTGCTGCTTTTATCCCAAGATGCCAGGCTGTCAGGCTGGGGTGCAATGCAAGCCCCCTGCTCAATGGGCTTCTCGGAAGGCATTTGAGGGGGGCTGGGGTGCGGCGGGAAGCAGGCACTGTGCCCACCCCGAACATTGTGTCTGTGCCAAGGTGAGTCATTCACTGGGCATGAAGAGGAGGCCCTGGGGGGCGGCCAGCCCAATGCTGCCAGGTCTGCTTGCAGACAAGGCCTGGCTGTCTGCCTCCTCCCCAGCTCACAGAGCCAGCTCAGGCCCCCGAGCCTCTGTCAGAGCAGCGTCCCCTACTCCACACCAGGATATGTTCTTTTTTTTTTTTTTTTTTTTTTTGTCTTTTGAGACAGGGTCTCACTG
TCTTGTACAGAGCAAGAAGGGCTGCCTGGAGGAGGCAGGCTGGCCCACAGGCAGGGCTACCTTGGAGCGGTACCACTCTTCGGCTTCATGCATGTTGCTGGACGCCATTGCCTCATACTGCGTGCGGATCTCTTTCAGGGCTGCGGTGAGGTCTGGCTTGGCCACGTCAAGCTCCACATGGACCTGCTGTCGGGCCAGCTGCTCCTGGAGTTCCCGAACCTCCTGACCAGGGTGAGAGAAGCGGTACCAGGGCTCAGGGTACAGGCCACAGCTGGGGTTCCCCACGCCATTGTGTCCTCTTCTGCCTGCCCCTCGGCCAGGAGTTCGAATGCTCTCTTGTCTCTTTCCGTCTCCCTTAGTGTCTTTCTGTTTGTCTTTCATTTCCTGTCTCTACCTGCCAATCTCTGTTTCTCTCCTCTCTCTGAGTGTCTCTCTCAGTCTCAGCTTCTCTGTCTCTGTCTCTCCCTCTCTCAGTTGCAATCTCTGTGTTGAGCTTTCCTCCCTCTGCCCTGGCCTCACCTCCTCGTGGATCTTCCTCAAGAACCGGATCTCCTCCTCCAGCGACTCAATCTTCCTCTCCAGATCCAGACGGGCCAGGGTGGCTTCATCTGCTTCCTGGAGTGGCAGGAGGGGTGAGGAGTAGAGGGCCACTGGGGCCCCAGGCTCCTTCTCCCCATTCCTCAGCCTTGCCTTACCCCTCCTTCTGGGGCAGTGGGGAGCAGCACATTGCTCTGGCGGGCTGAGCTTGGGGGCTGTGTTTGGGTGGGTGGCCATCAATCCTTTCCTCCCTCCCCTGCCCCTCCCCTCCACCTCCCTGACCTGTCTATAGGCAGCCAGGTTGTTCTCGGCTTCCAGCCTCAGGTTGGTTTCATCCTGGAGCCTGGAGTGGGGGGACACATTCCTGGGTCCAGGCTCTTCTGAGGACACTTGAATACCTGCCTCAGTCTCCCTTGAGGCAGCTGTCACAGAGACCACCCCCACCCAGGACCAGTAGAGCAGCAGGAGGATTAAGGGTTGGGGGGCCTTAGACAGAGGACTTGTCTGGAGGATGAGCAGATGTGGGCTTTTGCCTTAACTCATTACTAAGGTGCCTTATCAGGGTTGGTGCACCTGCTTCTGCTCACACAGGCGCATCCACAAGCATACACTCACTGTTGCACACACACACACACACACGCACATGTCCTCCTGCACTTGAAGGCACACATGCATGTCCTGTCAGCTCAGTGAAGCGCCATGCCCCTGGGGATTCCTCTGATCCCAGGTAACCACCTTTTGAAATGAATTTTATTATGACCACCGCTTCACAGCTGTGCAAGTCAAAGTAACTTGATGGGGGTCACAAGCTGGTGGCAGGCAGTCACCTGTGCTTTGCGCCCAGACCTGCCTGCTCTTTCCCTCACTTTCTTCACCCCAGAATCCAATCTCCCTCATGGACATCAACCTTCTCCGCTTCCAACTCCTCCTTTATATGGACACAGGCTCAGAATAGGTGAGCTCGCTGCCCACAGTCACAAAGCCCAGCCATGAATGAAACACAGGGGCCCCGCTGCTCCTGCACTGCTTTCCCCAGTAGGGAGGTGCTGAGGGGACCCTGGACTCCTGGCAGAAGGCATGCGGGCATCAGATCCCCGGGGCCCTGGGCCTGTTTCTGGTCCCTCCCATCATGTTGGGGGGCAAGGATAGTGCCCCATCAAGAGGTAGGGAGGCCCAGGGAGCAGGGAGGTTCGGCCCCTCCCTGAGACTTCTCGGGCACTCCTTCTTGGGGATTCAGCCCCTTCTGCTCACAAGGCCCCCCTTCCCCATCCCCTCCTCACTTCTGCCTCACAGTGGCCAGGTCCTGTGCCAGATTGTCCCTCTCAACCTCCAGCCGGGCGCTGTTGGCGGTGAGTTGATCGAGCCGCAGCCGCAGCTCTCGCAGCTCAGCCTGGTAGACGTCTGCCAGCTTGGTGGGCTCCTTGGCCCGCAGCTGGTTCAGCTCAGCAGCCAGCGCCTTGTTTTGCTGTTCCAGGAAGCGAACCTTCTCGATGTAGCTGGCAAAGCGGTCACTGAGCTCCATCATCTCTGCCCGCTCACTGGCCCGGGTCTCCTTGAAGCCAGCATTGAGTGCCCCAGCCAGGGAGAAATCCACCCGGGTCGGGAGTGGAGGGGGCATTCGAGCCAGGGAGAGGCGGGTGCCAGGACCCAGACGGCGGCCAGGAGCCAGGCCCCCCACCATCATCTCCCCTGAGGAGACGTAGGAGCGGCGAGCAGCGGAGGTGATGCGTCTCCTCTCCATCCTGCTCTGGCTCTGCTCGCTCCTGGGATGCGAGGGCTTTATGAAGGAGTGGGCTAGACTGGCGATGCCCGGGTGCCCCTGGCAACACCCCCTGGCATAGCCTGAGGGGGTGGGGTTGGGCCGCAGCCCAGCTATGGGGAGAGCTCCCCTCACCCCACTGAGGTCACTGTGCCCAGAGGCAGAGCTTCCTGGGCACGCCAACTCCTGCATGAGGCAGGTGGTACCTGGAGCCAGACCATGGGTCTGGGGCCCTGACCGCTGAAGCAAGAGGACCCTCTCTCTAGGAAGGTGGGTCAAGAAAGGGTTGGTTGGACCATGATGAATACTTACAATTATTATGCATCAATTAAAAAGGAAGGAAAGGGCTGAGTGGGGTGGCTCATGCTTGTAATCCCAGCACTTTGGGAGGCTGAGGCTGGAGGATTGCTTGAGCCCAGTAGGTTGAGGCTGCAGTGAGCTGTGTTTGCGCCACTCCAGCCTGGGCAACAGAGAGAGACCTTGTCTCACAAAAAAAAAAAAAAAAAAGGGAAGGAAGGGCTGTACCAGATGACCTCTGACCTGCTTTCCAACTTTTTGATTTCATAACCCAGGCATTATCTCACTCAGCTGTAAGTGCCTGCAAGGTGCTGGGAATTTGGCGAAGAATGAACCTGTTCTGTACCCTCAAGGGCCACCTCATTTCCTACTAGGCCTCATTCCCAGCAGACTCCTGGAGTCCTTCCCTTGAACACAGATGTCCCACATTCCTGCTCTCTGCCCATTCATTCCCTGGAGTTCTGGGGCTGGGGGCTGGGATTGGACACCAGCCCTTTGTCTAAGGGTCAATCATGGCCTCTATGTGGCAGTGGAGGTCCTGATAGGGCAAGAGGGGGCCGGCACTCTCTTGCCTTATCAGGACTTTAGCCCCTGGATCTGTCCCTCCAGGTCACCCCTTCCTTGTCTGGCCTCCCTGTGCCTCTCTCCCAGAGACCAGGCCTTGACAGCTCCACAAAGCCGTTACACATGAGCTGGCTGTGCTGGCTCGTCTTTATTCCTGCAGCGCCCCGTTTCCCTGGCCACCCCTCCGTCTCCCACTGGAGATTTATTTCCTCGAGTTCCCACACATCAGCCTGGAGAGATGGGAAGAACCTCTGGGGATGGATGGGTTTGGAAACGCTGGAGCCACTGGGCCCAACTAGGAGCCTGAGACCTGGGCCCTGTTGTCCCTGGAGACTTCAGGTCCATCTACGCCCTCCACTCTGGTCCCACAGGGTCAGAACCCTGCCCAGTCCCCTCACCCATTTGTGTCCTTGGACTTCTGGGAAGCAGACAGCCCTCCTCTCCCCCCCTGCCACCCACTGTCCATGCCTGGGCATCCCCTGATCCCCTTTCCTGGGCACAGGCTGAATAGAGCCTTGTTCTCCACCGCCGGTGGCGCCACACAGCAAGGGCAGCCCCTAGGGGGCTGTGCTGCTTTTATCCCAAGATGCCAGGCTGTCAGGCTGGGGTGCAATGCAAGCCCCCTGCTCAATGGGCTTCTCGGAAGGCATTTGAGGGGGGCTGGGGTGCGGCGGGAAGCAGGCACTGTGCCCACCCCGAACATTGTGTCTGTGCCAAGGTGAGTCATTCACTGGGCATGAAGAGGAGGCCCTGGGGGGCGGCCAGCCCAATGCTGCCAGGTCTGCTTGCAGACAAGGCCTGGCTGTCTGCCTCCTCCCCAGCTCACAGAGCCAGCTCAGGCCCCCGAGCCTCTGTCAGAGCAGCGTCCCCTACTCCACACCAGGATATGTTCTTTTTTTTTTTTTTTTTTTTTTTGTCTTTTGAGACAGGGTCTCACTG
Task1_train_24785
A mutation in GFAP (glial fibrillary acidic protein), located on Chromosome 17, is being studied. Determine whether it’s pathogenic or benign, and specify the linked disease.
Pathogenic; Alexander disease
CTTGTACAGAGCAAGAAGGGCTGCCTGGAGGAGGCAGGCTGGCCCACAGGCAGGGCTACCTTGGAGCGGTACCACTCTTCGGCTTCATGCATGTTGCTGGACGCCATTGCCTCATACTGCGTGCGGATCTCTTTCAGGGCTGCGGTGAGGTCTGGCTTGGCCACGTCAAGCTCCACATGGACCTGCTGTCGGGCCAGCTGCTCCTGGAGTTCCCGAACCTCCTGACCAGGGTGAGAGAAGCGGTACCAGGGCTCAGGGTACAGGCCACAGCTGGGGTTCCCCACGCCATTGTGTCCTCTTCTGCCTGCCCCTCGGCCAGGAGTTCGAATGCTCTCTTGTCTCTTTCCGTCTCCCTTAGTGTCTTTCTGTTTGTCTTTCATTTCCTGTCTCTACCTGCCAATCTCTGTTTCTCTCCTCTCTCTGAGTGTCTCTCTCAGTCTCAGCTTCTCTGTCTCTGTCTCTCCCTCTCTCAGTTGCAATCTCTGTGTTGAGCTTTCCTCCCTCTGCCCTGGCCTCACCTCCTCGTGGATCTTCCTCAAGAACCGGATCTCCTCCTCCAGCGACTCAATCTTCCTCTCCAGATCCAGACGGGCCAGGGTGGCTTCATCTGCTTCCTGGAGTGGCAGGAGGGGTGAGGAGTAGAGGGCCACTGGGGCCCCAGGCTCCTTCTCCCCATTCCTCAGCCTTGCCTTACCCCTCCTTCTGGGGCAGTGGGGAGCAGCACATTGCTCTGGCGGGCTGAGCTTGGGGGCTGTGTTTGGGTGGGTGGCCATCAATCCTTTCCTCCCTCCCCTGCCCCTCCCCTCCACCTCCCTGACCTGTCTATAGGCAGCCAGGTTGTTCTCGGCTTCCAGCCTCAGGTTGGTTTCATCCTGGAGCCTGGAGTGGGGGGACACATTCCTGGGTCCAGGCTCTTCTGAGGACACTTGAATACCTGCCTCAGTCTCCCTTGAGGCAGCTGTCACAGAGACCACCCCCACCCAGGACCAGTAGAGCAGCAGGAGGATTAAGGGTTGGGGGGCCTTAGACAGAGGACTTGTCTGGAGGATGAGCAGATGTGGGCTTTTGCCTTAACTCATTACTAAGGTGCCTTATCAGGGTTGGTGCACCTGCTTCTGCTCACACAGGCGCATCCACAAGCATACACTCACTGTTGCACACACACACACACACACGCACATGTCCTCCTGCACTTGAAGGCACACATGCATGTCCTGTCAGCTCAGTGAAGCGCCATGCCCCTGGGGATTCCTCTGATCCCAGGTAACCACCTTTTGAAATGAATTTTATTATGACCACCGCTTCACAGCTGTGCAAGTCAAAGTAACTTGATGGGGGTCACAAGCTGGTGGCAGGCAGTCACCTGTGCTTTGCGCCCAGACCTGCCTGCTCTTTCCCTCACTTTCTTCACCCCAGAATCCAATCTCCCTCATGGACATCAACCTTCTCCGCTTCCAACTCCTCCTTTATATGGACACAGGCTCAGAATAGGTGAGCTCGCTGCCCACAGTCACAAAGCCCAGCCATGAATGAAACACAGGGGCCCCGCTGCTCCTGCACTGCTTTCCCCAGTAGGGAGGTGCTGAGGGGACCCTGGACTCCTGGCAGAAGGCATGCGGGCATCAGATCCCCGGGGCCCTGGGCCTGTTTCTGGTCCCTCCCATCATGTTGGGGGGCAAGGATAGTGCCCCATCAAGAGGTAGGGAGGCCCAGGGAGCAGGGAGGTTCGGCCCCTCCCTGAGACTTCTCGGGCACTCCTTCTTGGGGATTCAGCCCCTTCTGCTCACAAGGCCCCCCTTCCCCATCCCCTCCTCACTTCTGCCTCACAGTGGCCAGGTCCTGTGCCAGATTGTCCCTCTCAACCTCCAGCCGGGCGCTGTTGGCGGTGAGTTGATCGAGCCGCAGCCGCAGCTCTCGCAGCTCAGCCTGGTAGACGTCTGCCAGCTTGGTGGGCTCCTTGGCCCGCAGCTGGTTCAGCTCAGCAGCCAGCGCCTTGTTTTGCTGTTCCAGGAAGCGAACCTTCTCGATGTAGCTGGCAAAGCGGTCATTGAGCTCCATCATCTCTGCCCGCTCACTGGCCCGGGTCTCCTTGAAGCCAGCATTGAGTGCCCCAGCCAGGGAGAAATCCACCCGGGTCGGGAGTGGAGGGGGCATTCGAGCCAGGGAGAGGCGGGTGCCAGGACCCAGACGGCGGCCAGGAGCCAGGCCCCCCACCATCATCTCCCCTGAGGAGACGTAGGAGCGGCGAGCAGCGGAGGTGATGCGTCTCCTCTCCATCCTGCTCTGGCTCTGCTCGCTCCTGGGATGCGAGGGCTTTATGAAGGAGTGGGCTAGACTGGCGATGCCCGGGTGCCCCTGGCAACACCCCCTGGCATAGCCTGAGGGGGTGGGGTTGGGCCGCAGCCCAGCTATGGGGAGAGCTCCCCTCACCCCACTGAGGTCACTGTGCCCAGAGGCAGAGCTTCCTGGGCACGCCAACTCCTGCATGAGGCAGGTGGTACCTGGAGCCAGACCATGGGTCTGGGGCCCTGACCGCTGAAGCAAGAGGACCCTCTCTCTAGGAAGGTGGGTCAAGAAAGGGTTGGTTGGACCATGATGAATACTTACAATTATTATGCATCAATTAAAAAGGAAGGAAAGGGCTGAGTGGGGTGGCTCATGCTTGTAATCCCAGCACTTTGGGAGGCTGAGGCTGGAGGATTGCTTGAGCCCAGTAGGTTGAGGCTGCAGTGAGCTGTGTTTGCGCCACTCCAGCCTGGGCAACAGAGAGAGACCTTGTCTCACAAAAAAAAAAAAAAAAAAGGGAAGGAAGGGCTGTACCAGATGACCTCTGACCTGCTTTCCAACTTTTTGATTTCATAACCCAGGCATTATCTCACTCAGCTGTAAGTGCCTGCAAGGTGCTGGGAATTTGGCGAAGAATGAACCTGTTCTGTACCCTCAAGGGCCACCTCATTTCCTACTAGGCCTCATTCCCAGCAGACTCCTGGAGTCCTTCCCTTGAACACAGATGTCCCACATTCCTGCTCTCTGCCCATTCATTCCCTGGAGTTCTGGGGCTGGGGGCTGGGATTGGACACCAGCCCTTTGTCTAAGGGTCAATCATGGCCTCTATGTGGCAGTGGAGGTCCTGATAGGGCAAGAGGGGGCCGGCACTCTCTTGCCTTATCAGGACTTTAGCCCCTGGATCTGTCCCTCCAGGTCACCCCTTCCTTGTCTGGCCTCCCTGTGCCTCTCTCCCAGAGACCAGGCCTTGACAGCTCCACAAAGCCGTTACACATGAGCTGGCTGTGCTGGCTCGTCTTTATTCCTGCAGCGCCCCGTTTCCCTGGCCACCCCTCCGTCTCCCACTGGAGATTTATTTCCTCGAGTTCCCACACATCAGCCTGGAGAGATGGGAAGAACCTCTGGGGATGGATGGGTTTGGAAACGCTGGAGCCACTGGGCCCAACTAGGAGCCTGAGACCTGGGCCCTGTTGTCCCTGGAGACTTCAGGTCCATCTACGCCCTCCACTCTGGTCCCACAGGGTCAGAACCCTGCCCAGTCCCCTCACCCATTTGTGTCCTTGGACTTCTGGGAAGCAGACAGCCCTCCTCTCCCCCCCTGCCACCCACTGTCCATGCCTGGGCATCCCCTGATCCCCTTTCCTGGGCACAGGCTGAATAGAGCCTTGTTCTCCACCGCCGGTGGCGCCACACAGCAAGGGCAGCCCCTAGGGGGCTGTGCTGCTTTTATCCCAAGATGCCAGGCTGTCAGGCTGGGGTGCAATGCAAGCCCCCTGCTCAATGGGCTTCTCGGAAGGCATTTGAGGGGGGCTGGGGTGCGGCGGGAAGCAGGCACTGTGCCCACCCCGAACATTGTGTCTGTGCCAAGGTGAGTCATTCACTGGGCATGAAGAGGAGGCCCTGGGGGGCGGCCAGCCCAATGCTGCCAGGTCTGCTTGCAGACAAGGCCTGGCTGTCTGCCTCCTCCCCAGCTCACAGAGCCAGCTCAGGCCCCCGAGCCTCTGTCAGAGCAGCGTCCCCTACTCCACACCAGGATATGTTCTTTTTTTTTTTTTTTTTTTTTTTGTCTTTTGAGACAGGGTCTCACTGT
CTTGTACAGAGCAAGAAGGGCTGCCTGGAGGAGGCAGGCTGGCCCACAGGCAGGGCTACCTTGGAGCGGTACCACTCTTCGGCTTCATGCATGTTGCTGGACGCCATTGCCTCATACTGCGTGCGGATCTCTTTCAGGGCTGCGGTGAGGTCTGGCTTGGCCACGTCAAGCTCCACATGGACCTGCTGTCGGGCCAGCTGCTCCTGGAGTTCCCGAACCTCCTGACCAGGGTGAGAGAAGCGGTACCAGGGCTCAGGGTACAGGCCACAGCTGGGGTTCCCCACGCCATTGTGTCCTCTTCTGCCTGCCCCTCGGCCAGGAGTTCGAATGCTCTCTTGTCTCTTTCCGTCTCCCTTAGTGTCTTTCTGTTTGTCTTTCATTTCCTGTCTCTACCTGCCAATCTCTGTTTCTCTCCTCTCTCTGAGTGTCTCTCTCAGTCTCAGCTTCTCTGTCTCTGTCTCTCCCTCTCTCAGTTGCAATCTCTGTGTTGAGCTTTCCTCCCTCTGCCCTGGCCTCACCTCCTCGTGGATCTTCCTCAAGAACCGGATCTCCTCCTCCAGCGACTCAATCTTCCTCTCCAGATCCAGACGGGCCAGGGTGGCTTCATCTGCTTCCTGGAGTGGCAGGAGGGGTGAGGAGTAGAGGGCCACTGGGGCCCCAGGCTCCTTCTCCCCATTCCTCAGCCTTGCCTTACCCCTCCTTCTGGGGCAGTGGGGAGCAGCACATTGCTCTGGCGGGCTGAGCTTGGGGGCTGTGTTTGGGTGGGTGGCCATCAATCCTTTCCTCCCTCCCCTGCCCCTCCCCTCCACCTCCCTGACCTGTCTATAGGCAGCCAGGTTGTTCTCGGCTTCCAGCCTCAGGTTGGTTTCATCCTGGAGCCTGGAGTGGGGGGACACATTCCTGGGTCCAGGCTCTTCTGAGGACACTTGAATACCTGCCTCAGTCTCCCTTGAGGCAGCTGTCACAGAGACCACCCCCACCCAGGACCAGTAGAGCAGCAGGAGGATTAAGGGTTGGGGGGCCTTAGACAGAGGACTTGTCTGGAGGATGAGCAGATGTGGGCTTTTGCCTTAACTCATTACTAAGGTGCCTTATCAGGGTTGGTGCACCTGCTTCTGCTCACACAGGCGCATCCACAAGCATACACTCACTGTTGCACACACACACACACACACGCACATGTCCTCCTGCACTTGAAGGCACACATGCATGTCCTGTCAGCTCAGTGAAGCGCCATGCCCCTGGGGATTCCTCTGATCCCAGGTAACCACCTTTTGAAATGAATTTTATTATGACCACCGCTTCACAGCTGTGCAAGTCAAAGTAACTTGATGGGGGTCACAAGCTGGTGGCAGGCAGTCACCTGTGCTTTGCGCCCAGACCTGCCTGCTCTTTCCCTCACTTTCTTCACCCCAGAATCCAATCTCCCTCATGGACATCAACCTTCTCCGCTTCCAACTCCTCCTTTATATGGACACAGGCTCAGAATAGGTGAGCTCGCTGCCCACAGTCACAAAGCCCAGCCATGAATGAAACACAGGGGCCCCGCTGCTCCTGCACTGCTTTCCCCAGTAGGGAGGTGCTGAGGGGACCCTGGACTCCTGGCAGAAGGCATGCGGGCATCAGATCCCCGGGGCCCTGGGCCTGTTTCTGGTCCCTCCCATCATGTTGGGGGGCAAGGATAGTGCCCCATCAAGAGGTAGGGAGGCCCAGGGAGCAGGGAGGTTCGGCCCCTCCCTGAGACTTCTCGGGCACTCCTTCTTGGGGATTCAGCCCCTTCTGCTCACAAGGCCCCCCTTCCCCATCCCCTCCTCACTTCTGCCTCACAGTGGCCAGGTCCTGTGCCAGATTGTCCCTCTCAACCTCCAGCCGGGCGCTGTTGGCGGTGAGTTGATCGAGCCGCAGCCGCAGCTCTCGCAGCTCAGCCTGGTAGACGTCTGCCAGCTTGGTGGGCTCCTTGGCCCGCAGCTGGTTCAGCTCAGCAGCCAGCGCCTTGTTTTGCTGTTCCAGGAAGCGAACCTTCTCGATGTAGCTGGCAAAGCGGTCATAGAGCTCCATCATCTCTGCCCGCTCACTGGCCCGGGTCTCCTTGAAGCCAGCATTGAGTGCCCCAGCCAGGGAGAAATCCACCCGGGTCGGGAGTGGAGGGGGCATTCGAGCCAGGGAGAGGCGGGTGCCAGGACCCAGACGGCGGCCAGGAGCCAGGCCCCCCACCATCATCTCCCCTGAGGAGACGTAGGAGCGGCGAGCAGCGGAGGTGATGCGTCTCCTCTCCATCCTGCTCTGGCTCTGCTCGCTCCTGGGATGCGAGGGCTTTATGAAGGAGTGGGCTAGACTGGCGATGCCCGGGTGCCCCTGGCAACACCCCCTGGCATAGCCTGAGGGGGTGGGGTTGGGCCGCAGCCCAGCTATGGGGAGAGCTCCCCTCACCCCACTGAGGTCACTGTGCCCAGAGGCAGAGCTTCCTGGGCACGCCAACTCCTGCATGAGGCAGGTGGTACCTGGAGCCAGACCATGGGTCTGGGGCCCTGACCGCTGAAGCAAGAGGACCCTCTCTCTAGGAAGGTGGGTCAAGAAAGGGTTGGTTGGACCATGATGAATACTTACAATTATTATGCATCAATTAAAAAGGAAGGAAAGGGCTGAGTGGGGTGGCTCATGCTTGTAATCCCAGCACTTTGGGAGGCTGAGGCTGGAGGATTGCTTGAGCCCAGTAGGTTGAGGCTGCAGTGAGCTGTGTTTGCGCCACTCCAGCCTGGGCAACAGAGAGAGACCTTGTCTCACAAAAAAAAAAAAAAAAAAGGGAAGGAAGGGCTGTACCAGATGACCTCTGACCTGCTTTCCAACTTTTTGATTTCATAACCCAGGCATTATCTCACTCAGCTGTAAGTGCCTGCAAGGTGCTGGGAATTTGGCGAAGAATGAACCTGTTCTGTACCCTCAAGGGCCACCTCATTTCCTACTAGGCCTCATTCCCAGCAGACTCCTGGAGTCCTTCCCTTGAACACAGATGTCCCACATTCCTGCTCTCTGCCCATTCATTCCCTGGAGTTCTGGGGCTGGGGGCTGGGATTGGACACCAGCCCTTTGTCTAAGGGTCAATCATGGCCTCTATGTGGCAGTGGAGGTCCTGATAGGGCAAGAGGGGGCCGGCACTCTCTTGCCTTATCAGGACTTTAGCCCCTGGATCTGTCCCTCCAGGTCACCCCTTCCTTGTCTGGCCTCCCTGTGCCTCTCTCCCAGAGACCAGGCCTTGACAGCTCCACAAAGCCGTTACACATGAGCTGGCTGTGCTGGCTCGTCTTTATTCCTGCAGCGCCCCGTTTCCCTGGCCACCCCTCCGTCTCCCACTGGAGATTTATTTCCTCGAGTTCCCACACATCAGCCTGGAGAGATGGGAAGAACCTCTGGGGATGGATGGGTTTGGAAACGCTGGAGCCACTGGGCCCAACTAGGAGCCTGAGACCTGGGCCCTGTTGTCCCTGGAGACTTCAGGTCCATCTACGCCCTCCACTCTGGTCCCACAGGGTCAGAACCCTGCCCAGTCCCCTCACCCATTTGTGTCCTTGGACTTCTGGGAAGCAGACAGCCCTCCTCTCCCCCCCTGCCACCCACTGTCCATGCCTGGGCATCCCCTGATCCCCTTTCCTGGGCACAGGCTGAATAGAGCCTTGTTCTCCACCGCCGGTGGCGCCACACAGCAAGGGCAGCCCCTAGGGGGCTGTGCTGCTTTTATCCCAAGATGCCAGGCTGTCAGGCTGGGGTGCAATGCAAGCCCCCTGCTCAATGGGCTTCTCGGAAGGCATTTGAGGGGGGCTGGGGTGCGGCGGGAAGCAGGCACTGTGCCCACCCCGAACATTGTGTCTGTGCCAAGGTGAGTCATTCACTGGGCATGAAGAGGAGGCCCTGGGGGGCGGCCAGCCCAATGCTGCCAGGTCTGCTTGCAGACAAGGCCTGGCTGTCTGCCTCCTCCCCAGCTCACAGAGCCAGCTCAGGCCCCCGAGCCTCTGTCAGAGCAGCGTCCCCTACTCCACACCAGGATATGTTCTTTTTTTTTTTTTTTTTTTTTTTGTCTTTTGAGACAGGGTCTCACTGT
Task1_train_24786
A mutation on Chromosome 17 affecting GFAP (glial fibrillary acidic protein) has been found. Is it harmful or harmless? What disease, if any, does it cause?
Pathogenic; not provided
GTACAGAGCAAGAAGGGCTGCCTGGAGGAGGCAGGCTGGCCCACAGGCAGGGCTACCTTGGAGCGGTACCACTCTTCGGCTTCATGCATGTTGCTGGACGCCATTGCCTCATACTGCGTGCGGATCTCTTTCAGGGCTGCGGTGAGGTCTGGCTTGGCCACGTCAAGCTCCACATGGACCTGCTGTCGGGCCAGCTGCTCCTGGAGTTCCCGAACCTCCTGACCAGGGTGAGAGAAGCGGTACCAGGGCTCAGGGTACAGGCCACAGCTGGGGTTCCCCACGCCATTGTGTCCTCTTCTGCCTGCCCCTCGGCCAGGAGTTCGAATGCTCTCTTGTCTCTTTCCGTCTCCCTTAGTGTCTTTCTGTTTGTCTTTCATTTCCTGTCTCTACCTGCCAATCTCTGTTTCTCTCCTCTCTCTGAGTGTCTCTCTCAGTCTCAGCTTCTCTGTCTCTGTCTCTCCCTCTCTCAGTTGCAATCTCTGTGTTGAGCTTTCCTCCCTCTGCCCTGGCCTCACCTCCTCGTGGATCTTCCTCAAGAACCGGATCTCCTCCTCCAGCGACTCAATCTTCCTCTCCAGATCCAGACGGGCCAGGGTGGCTTCATCTGCTTCCTGGAGTGGCAGGAGGGGTGAGGAGTAGAGGGCCACTGGGGCCCCAGGCTCCTTCTCCCCATTCCTCAGCCTTGCCTTACCCCTCCTTCTGGGGCAGTGGGGAGCAGCACATTGCTCTGGCGGGCTGAGCTTGGGGGCTGTGTTTGGGTGGGTGGCCATCAATCCTTTCCTCCCTCCCCTGCCCCTCCCCTCCACCTCCCTGACCTGTCTATAGGCAGCCAGGTTGTTCTCGGCTTCCAGCCTCAGGTTGGTTTCATCCTGGAGCCTGGAGTGGGGGGACACATTCCTGGGTCCAGGCTCTTCTGAGGACACTTGAATACCTGCCTCAGTCTCCCTTGAGGCAGCTGTCACAGAGACCACCCCCACCCAGGACCAGTAGAGCAGCAGGAGGATTAAGGGTTGGGGGGCCTTAGACAGAGGACTTGTCTGGAGGATGAGCAGATGTGGGCTTTTGCCTTAACTCATTACTAAGGTGCCTTATCAGGGTTGGTGCACCTGCTTCTGCTCACACAGGCGCATCCACAAGCATACACTCACTGTTGCACACACACACACACACACGCACATGTCCTCCTGCACTTGAAGGCACACATGCATGTCCTGTCAGCTCAGTGAAGCGCCATGCCCCTGGGGATTCCTCTGATCCCAGGTAACCACCTTTTGAAATGAATTTTATTATGACCACCGCTTCACAGCTGTGCAAGTCAAAGTAACTTGATGGGGGTCACAAGCTGGTGGCAGGCAGTCACCTGTGCTTTGCGCCCAGACCTGCCTGCTCTTTCCCTCACTTTCTTCACCCCAGAATCCAATCTCCCTCATGGACATCAACCTTCTCCGCTTCCAACTCCTCCTTTATATGGACACAGGCTCAGAATAGGTGAGCTCGCTGCCCACAGTCACAAAGCCCAGCCATGAATGAAACACAGGGGCCCCGCTGCTCCTGCACTGCTTTCCCCAGTAGGGAGGTGCTGAGGGGACCCTGGACTCCTGGCAGAAGGCATGCGGGCATCAGATCCCCGGGGCCCTGGGCCTGTTTCTGGTCCCTCCCATCATGTTGGGGGGCAAGGATAGTGCCCCATCAAGAGGTAGGGAGGCCCAGGGAGCAGGGAGGTTCGGCCCCTCCCTGAGACTTCTCGGGCACTCCTTCTTGGGGATTCAGCCCCTTCTGCTCACAAGGCCCCCCTTCCCCATCCCCTCCTCACTTCTGCCTCACAGTGGCCAGGTCCTGTGCCAGATTGTCCCTCTCAACCTCCAGCCGGGCGCTGTTGGCGGTGAGTTGATCGAGCCGCAGCCGCAGCTCTCGCAGCTCAGCCTGGTAGACGTCTGCCAGCTTGGTGGGCTCCTTGGCCCGCAGCTGGTTCAGCTCAGCAGCCAGCGCCTTGTTTTGCTGTTCCAGGAAGCGAACCTTCTCGATGTAGCTGGCAAAGCGGTCATTGAGCTCCATCATCTCTGCCCGCTCACTGGCCCGGGTCTCCTTGAAGCCAGCATTGAGTGCCCCAGCCAGGGAGAAATCCACCCGGGTCGGGAGTGGAGGGGGCATTCGAGCCAGGGAGAGGCGGGTGCCAGGACCCAGACGGCGGCCAGGAGCCAGGCCCCCCACCATCATCTCCCCTGAGGAGACGTAGGAGCGGCGAGCAGCGGAGGTGATGCGTCTCCTCTCCATCCTGCTCTGGCTCTGCTCGCTCCTGGGATGCGAGGGCTTTATGAAGGAGTGGGCTAGACTGGCGATGCCCGGGTGCCCCTGGCAACACCCCCTGGCATAGCCTGAGGGGGTGGGGTTGGGCCGCAGCCCAGCTATGGGGAGAGCTCCCCTCACCCCACTGAGGTCACTGTGCCCAGAGGCAGAGCTTCCTGGGCACGCCAACTCCTGCATGAGGCAGGTGGTACCTGGAGCCAGACCATGGGTCTGGGGCCCTGACCGCTGAAGCAAGAGGACCCTCTCTCTAGGAAGGTGGGTCAAGAAAGGGTTGGTTGGACCATGATGAATACTTACAATTATTATGCATCAATTAAAAAGGAAGGAAAGGGCTGAGTGGGGTGGCTCATGCTTGTAATCCCAGCACTTTGGGAGGCTGAGGCTGGAGGATTGCTTGAGCCCAGTAGGTTGAGGCTGCAGTGAGCTGTGTTTGCGCCACTCCAGCCTGGGCAACAGAGAGAGACCTTGTCTCACAAAAAAAAAAAAAAAAAAGGGAAGGAAGGGCTGTACCAGATGACCTCTGACCTGCTTTCCAACTTTTTGATTTCATAACCCAGGCATTATCTCACTCAGCTGTAAGTGCCTGCAAGGTGCTGGGAATTTGGCGAAGAATGAACCTGTTCTGTACCCTCAAGGGCCACCTCATTTCCTACTAGGCCTCATTCCCAGCAGACTCCTGGAGTCCTTCCCTTGAACACAGATGTCCCACATTCCTGCTCTCTGCCCATTCATTCCCTGGAGTTCTGGGGCTGGGGGCTGGGATTGGACACCAGCCCTTTGTCTAAGGGTCAATCATGGCCTCTATGTGGCAGTGGAGGTCCTGATAGGGCAAGAGGGGGCCGGCACTCTCTTGCCTTATCAGGACTTTAGCCCCTGGATCTGTCCCTCCAGGTCACCCCTTCCTTGTCTGGCCTCCCTGTGCCTCTCTCCCAGAGACCAGGCCTTGACAGCTCCACAAAGCCGTTACACATGAGCTGGCTGTGCTGGCTCGTCTTTATTCCTGCAGCGCCCCGTTTCCCTGGCCACCCCTCCGTCTCCCACTGGAGATTTATTTCCTCGAGTTCCCACACATCAGCCTGGAGAGATGGGAAGAACCTCTGGGGATGGATGGGTTTGGAAACGCTGGAGCCACTGGGCCCAACTAGGAGCCTGAGACCTGGGCCCTGTTGTCCCTGGAGACTTCAGGTCCATCTACGCCCTCCACTCTGGTCCCACAGGGTCAGAACCCTGCCCAGTCCCCTCACCCATTTGTGTCCTTGGACTTCTGGGAAGCAGACAGCCCTCCTCTCCCCCCCTGCCACCCACTGTCCATGCCTGGGCATCCCCTGATCCCCTTTCCTGGGCACAGGCTGAATAGAGCCTTGTTCTCCACCGCCGGTGGCGCCACACAGCAAGGGCAGCCCCTAGGGGGCTGTGCTGCTTTTATCCCAAGATGCCAGGCTGTCAGGCTGGGGTGCAATGCAAGCCCCCTGCTCAATGGGCTTCTCGGAAGGCATTTGAGGGGGGCTGGGGTGCGGCGGGAAGCAGGCACTGTGCCCACCCCGAACATTGTGTCTGTGCCAAGGTGAGTCATTCACTGGGCATGAAGAGGAGGCCCTGGGGGGCGGCCAGCCCAATGCTGCCAGGTCTGCTTGCAGACAAGGCCTGGCTGTCTGCCTCCTCCCCAGCTCACAGAGCCAGCTCAGGCCCCCGAGCCTCTGTCAGAGCAGCGTCCCCTACTCCACACCAGGATATGTTCTTTTTTTTTTTTTTTTTTTTTTTGTCTTTTGAGACAGGGTCTCACTGTTGC
GTACAGAGCAAGAAGGGCTGCCTGGAGGAGGCAGGCTGGCCCACAGGCAGGGCTACCTTGGAGCGGTACCACTCTTCGGCTTCATGCATGTTGCTGGACGCCATTGCCTCATACTGCGTGCGGATCTCTTTCAGGGCTGCGGTGAGGTCTGGCTTGGCCACGTCAAGCTCCACATGGACCTGCTGTCGGGCCAGCTGCTCCTGGAGTTCCCGAACCTCCTGACCAGGGTGAGAGAAGCGGTACCAGGGCTCAGGGTACAGGCCACAGCTGGGGTTCCCCACGCCATTGTGTCCTCTTCTGCCTGCCCCTCGGCCAGGAGTTCGAATGCTCTCTTGTCTCTTTCCGTCTCCCTTAGTGTCTTTCTGTTTGTCTTTCATTTCCTGTCTCTACCTGCCAATCTCTGTTTCTCTCCTCTCTCTGAGTGTCTCTCTCAGTCTCAGCTTCTCTGTCTCTGTCTCTCCCTCTCTCAGTTGCAATCTCTGTGTTGAGCTTTCCTCCCTCTGCCCTGGCCTCACCTCCTCGTGGATCTTCCTCAAGAACCGGATCTCCTCCTCCAGCGACTCAATCTTCCTCTCCAGATCCAGACGGGCCAGGGTGGCTTCATCTGCTTCCTGGAGTGGCAGGAGGGGTGAGGAGTAGAGGGCCACTGGGGCCCCAGGCTCCTTCTCCCCATTCCTCAGCCTTGCCTTACCCCTCCTTCTGGGGCAGTGGGGAGCAGCACATTGCTCTGGCGGGCTGAGCTTGGGGGCTGTGTTTGGGTGGGTGGCCATCAATCCTTTCCTCCCTCCCCTGCCCCTCCCCTCCACCTCCCTGACCTGTCTATAGGCAGCCAGGTTGTTCTCGGCTTCCAGCCTCAGGTTGGTTTCATCCTGGAGCCTGGAGTGGGGGGACACATTCCTGGGTCCAGGCTCTTCTGAGGACACTTGAATACCTGCCTCAGTCTCCCTTGAGGCAGCTGTCACAGAGACCACCCCCACCCAGGACCAGTAGAGCAGCAGGAGGATTAAGGGTTGGGGGGCCTTAGACAGAGGACTTGTCTGGAGGATGAGCAGATGTGGGCTTTTGCCTTAACTCATTACTAAGGTGCCTTATCAGGGTTGGTGCACCTGCTTCTGCTCACACAGGCGCATCCACAAGCATACACTCACTGTTGCACACACACACACACACACGCACATGTCCTCCTGCACTTGAAGGCACACATGCATGTCCTGTCAGCTCAGTGAAGCGCCATGCCCCTGGGGATTCCTCTGATCCCAGGTAACCACCTTTTGAAATGAATTTTATTATGACCACCGCTTCACAGCTGTGCAAGTCAAAGTAACTTGATGGGGGTCACAAGCTGGTGGCAGGCAGTCACCTGTGCTTTGCGCCCAGACCTGCCTGCTCTTTCCCTCACTTTCTTCACCCCAGAATCCAATCTCCCTCATGGACATCAACCTTCTCCGCTTCCAACTCCTCCTTTATATGGACACAGGCTCAGAATAGGTGAGCTCGCTGCCCACAGTCACAAAGCCCAGCCATGAATGAAACACAGGGGCCCCGCTGCTCCTGCACTGCTTTCCCCAGTAGGGAGGTGCTGAGGGGACCCTGGACTCCTGGCAGAAGGCATGCGGGCATCAGATCCCCGGGGCCCTGGGCCTGTTTCTGGTCCCTCCCATCATGTTGGGGGGCAAGGATAGTGCCCCATCAAGAGGTAGGGAGGCCCAGGGAGCAGGGAGGTTCGGCCCCTCCCTGAGACTTCTCGGGCACTCCTTCTTGGGGATTCAGCCCCTTCTGCTCACAAGGCCCCCCTTCCCCATCCCCTCCTCACTTCTGCCTCACAGTGGCCAGGTCCTGTGCCAGATTGTCCCTCTCAACCTCCAGCCGGGCGCTGTTGGCGGTGAGTTGATCGAGCCGCAGCCGCAGCTCTCGCAGCTCAGCCTGGTAGACGTCTGCCAGCTTGGTGGGCTCCTTGGCCCGCAGCTGGTTCAGCTCAGCAGCCAGCGCCTTGTTTTGCTGTTCCAGGAAGCGAACCTTCTCGATGTAGCTGGCAAAGCGGTCATTGAACTCCATCATCTCTGCCCGCTCACTGGCCCGGGTCTCCTTGAAGCCAGCATTGAGTGCCCCAGCCAGGGAGAAATCCACCCGGGTCGGGAGTGGAGGGGGCATTCGAGCCAGGGAGAGGCGGGTGCCAGGACCCAGACGGCGGCCAGGAGCCAGGCCCCCCACCATCATCTCCCCTGAGGAGACGTAGGAGCGGCGAGCAGCGGAGGTGATGCGTCTCCTCTCCATCCTGCTCTGGCTCTGCTCGCTCCTGGGATGCGAGGGCTTTATGAAGGAGTGGGCTAGACTGGCGATGCCCGGGTGCCCCTGGCAACACCCCCTGGCATAGCCTGAGGGGGTGGGGTTGGGCCGCAGCCCAGCTATGGGGAGAGCTCCCCTCACCCCACTGAGGTCACTGTGCCCAGAGGCAGAGCTTCCTGGGCACGCCAACTCCTGCATGAGGCAGGTGGTACCTGGAGCCAGACCATGGGTCTGGGGCCCTGACCGCTGAAGCAAGAGGACCCTCTCTCTAGGAAGGTGGGTCAAGAAAGGGTTGGTTGGACCATGATGAATACTTACAATTATTATGCATCAATTAAAAAGGAAGGAAAGGGCTGAGTGGGGTGGCTCATGCTTGTAATCCCAGCACTTTGGGAGGCTGAGGCTGGAGGATTGCTTGAGCCCAGTAGGTTGAGGCTGCAGTGAGCTGTGTTTGCGCCACTCCAGCCTGGGCAACAGAGAGAGACCTTGTCTCACAAAAAAAAAAAAAAAAAAGGGAAGGAAGGGCTGTACCAGATGACCTCTGACCTGCTTTCCAACTTTTTGATTTCATAACCCAGGCATTATCTCACTCAGCTGTAAGTGCCTGCAAGGTGCTGGGAATTTGGCGAAGAATGAACCTGTTCTGTACCCTCAAGGGCCACCTCATTTCCTACTAGGCCTCATTCCCAGCAGACTCCTGGAGTCCTTCCCTTGAACACAGATGTCCCACATTCCTGCTCTCTGCCCATTCATTCCCTGGAGTTCTGGGGCTGGGGGCTGGGATTGGACACCAGCCCTTTGTCTAAGGGTCAATCATGGCCTCTATGTGGCAGTGGAGGTCCTGATAGGGCAAGAGGGGGCCGGCACTCTCTTGCCTTATCAGGACTTTAGCCCCTGGATCTGTCCCTCCAGGTCACCCCTTCCTTGTCTGGCCTCCCTGTGCCTCTCTCCCAGAGACCAGGCCTTGACAGCTCCACAAAGCCGTTACACATGAGCTGGCTGTGCTGGCTCGTCTTTATTCCTGCAGCGCCCCGTTTCCCTGGCCACCCCTCCGTCTCCCACTGGAGATTTATTTCCTCGAGTTCCCACACATCAGCCTGGAGAGATGGGAAGAACCTCTGGGGATGGATGGGTTTGGAAACGCTGGAGCCACTGGGCCCAACTAGGAGCCTGAGACCTGGGCCCTGTTGTCCCTGGAGACTTCAGGTCCATCTACGCCCTCCACTCTGGTCCCACAGGGTCAGAACCCTGCCCAGTCCCCTCACCCATTTGTGTCCTTGGACTTCTGGGAAGCAGACAGCCCTCCTCTCCCCCCCTGCCACCCACTGTCCATGCCTGGGCATCCCCTGATCCCCTTTCCTGGGCACAGGCTGAATAGAGCCTTGTTCTCCACCGCCGGTGGCGCCACACAGCAAGGGCAGCCCCTAGGGGGCTGTGCTGCTTTTATCCCAAGATGCCAGGCTGTCAGGCTGGGGTGCAATGCAAGCCCCCTGCTCAATGGGCTTCTCGGAAGGCATTTGAGGGGGGCTGGGGTGCGGCGGGAAGCAGGCACTGTGCCCACCCCGAACATTGTGTCTGTGCCAAGGTGAGTCATTCACTGGGCATGAAGAGGAGGCCCTGGGGGGCGGCCAGCCCAATGCTGCCAGGTCTGCTTGCAGACAAGGCCTGGCTGTCTGCCTCCTCCCCAGCTCACAGAGCCAGCTCAGGCCCCCGAGCCTCTGTCAGAGCAGCGTCCCCTACTCCACACCAGGATATGTTCTTTTTTTTTTTTTTTTTTTTTTTGTCTTTTGAGACAGGGTCTCACTGTTGC
Task1_train_24787
A variant on Chromosome 17 in gene GFAP (glial fibrillary acidic protein) has been observed. Is this a neutral mutation, or does it result in a disease? If so, which one?
Pathogenic; Alexander disease
CAAGAAGGGCTGCCTGGAGGAGGCAGGCTGGCCCACAGGCAGGGCTACCTTGGAGCGGTACCACTCTTCGGCTTCATGCATGTTGCTGGACGCCATTGCCTCATACTGCGTGCGGATCTCTTTCAGGGCTGCGGTGAGGTCTGGCTTGGCCACGTCAAGCTCCACATGGACCTGCTGTCGGGCCAGCTGCTCCTGGAGTTCCCGAACCTCCTGACCAGGGTGAGAGAAGCGGTACCAGGGCTCAGGGTACAGGCCACAGCTGGGGTTCCCCACGCCATTGTGTCCTCTTCTGCCTGCCCCTCGGCCAGGAGTTCGAATGCTCTCTTGTCTCTTTCCGTCTCCCTTAGTGTCTTTCTGTTTGTCTTTCATTTCCTGTCTCTACCTGCCAATCTCTGTTTCTCTCCTCTCTCTGAGTGTCTCTCTCAGTCTCAGCTTCTCTGTCTCTGTCTCTCCCTCTCTCAGTTGCAATCTCTGTGTTGAGCTTTCCTCCCTCTGCCCTGGCCTCACCTCCTCGTGGATCTTCCTCAAGAACCGGATCTCCTCCTCCAGCGACTCAATCTTCCTCTCCAGATCCAGACGGGCCAGGGTGGCTTCATCTGCTTCCTGGAGTGGCAGGAGGGGTGAGGAGTAGAGGGCCACTGGGGCCCCAGGCTCCTTCTCCCCATTCCTCAGCCTTGCCTTACCCCTCCTTCTGGGGCAGTGGGGAGCAGCACATTGCTCTGGCGGGCTGAGCTTGGGGGCTGTGTTTGGGTGGGTGGCCATCAATCCTTTCCTCCCTCCCCTGCCCCTCCCCTCCACCTCCCTGACCTGTCTATAGGCAGCCAGGTTGTTCTCGGCTTCCAGCCTCAGGTTGGTTTCATCCTGGAGCCTGGAGTGGGGGGACACATTCCTGGGTCCAGGCTCTTCTGAGGACACTTGAATACCTGCCTCAGTCTCCCTTGAGGCAGCTGTCACAGAGACCACCCCCACCCAGGACCAGTAGAGCAGCAGGAGGATTAAGGGTTGGGGGGCCTTAGACAGAGGACTTGTCTGGAGGATGAGCAGATGTGGGCTTTTGCCTTAACTCATTACTAAGGTGCCTTATCAGGGTTGGTGCACCTGCTTCTGCTCACACAGGCGCATCCACAAGCATACACTCACTGTTGCACACACACACACACACACGCACATGTCCTCCTGCACTTGAAGGCACACATGCATGTCCTGTCAGCTCAGTGAAGCGCCATGCCCCTGGGGATTCCTCTGATCCCAGGTAACCACCTTTTGAAATGAATTTTATTATGACCACCGCTTCACAGCTGTGCAAGTCAAAGTAACTTGATGGGGGTCACAAGCTGGTGGCAGGCAGTCACCTGTGCTTTGCGCCCAGACCTGCCTGCTCTTTCCCTCACTTTCTTCACCCCAGAATCCAATCTCCCTCATGGACATCAACCTTCTCCGCTTCCAACTCCTCCTTTATATGGACACAGGCTCAGAATAGGTGAGCTCGCTGCCCACAGTCACAAAGCCCAGCCATGAATGAAACACAGGGGCCCCGCTGCTCCTGCACTGCTTTCCCCAGTAGGGAGGTGCTGAGGGGACCCTGGACTCCTGGCAGAAGGCATGCGGGCATCAGATCCCCGGGGCCCTGGGCCTGTTTCTGGTCCCTCCCATCATGTTGGGGGGCAAGGATAGTGCCCCATCAAGAGGTAGGGAGGCCCAGGGAGCAGGGAGGTTCGGCCCCTCCCTGAGACTTCTCGGGCACTCCTTCTTGGGGATTCAGCCCCTTCTGCTCACAAGGCCCCCCTTCCCCATCCCCTCCTCACTTCTGCCTCACAGTGGCCAGGTCCTGTGCCAGATTGTCCCTCTCAACCTCCAGCCGGGCGCTGTTGGCGGTGAGTTGATCGAGCCGCAGCCGCAGCTCTCGCAGCTCAGCCTGGTAGACGTCTGCCAGCTTGGTGGGCTCCTTGGCCCGCAGCTGGTTCAGCTCAGCAGCCAGCGCCTTGTTTTGCTGTTCCAGGAAGCGAACCTTCTCGATGTAGCTGGCAAAGCGGTCATTGAGCTCCATCATCTCTGCCCGCTCACTGGCCCGGGTCTCCTTGAAGCCAGCATTGAGTGCCCCAGCCAGGGAGAAATCCACCCGGGTCGGGAGTGGAGGGGGCATTCGAGCCAGGGAGAGGCGGGTGCCAGGACCCAGACGGCGGCCAGGAGCCAGGCCCCCCACCATCATCTCCCCTGAGGAGACGTAGGAGCGGCGAGCAGCGGAGGTGATGCGTCTCCTCTCCATCCTGCTCTGGCTCTGCTCGCTCCTGGGATGCGAGGGCTTTATGAAGGAGTGGGCTAGACTGGCGATGCCCGGGTGCCCCTGGCAACACCCCCTGGCATAGCCTGAGGGGGTGGGGTTGGGCCGCAGCCCAGCTATGGGGAGAGCTCCCCTCACCCCACTGAGGTCACTGTGCCCAGAGGCAGAGCTTCCTGGGCACGCCAACTCCTGCATGAGGCAGGTGGTACCTGGAGCCAGACCATGGGTCTGGGGCCCTGACCGCTGAAGCAAGAGGACCCTCTCTCTAGGAAGGTGGGTCAAGAAAGGGTTGGTTGGACCATGATGAATACTTACAATTATTATGCATCAATTAAAAAGGAAGGAAAGGGCTGAGTGGGGTGGCTCATGCTTGTAATCCCAGCACTTTGGGAGGCTGAGGCTGGAGGATTGCTTGAGCCCAGTAGGTTGAGGCTGCAGTGAGCTGTGTTTGCGCCACTCCAGCCTGGGCAACAGAGAGAGACCTTGTCTCACAAAAAAAAAAAAAAAAAAGGGAAGGAAGGGCTGTACCAGATGACCTCTGACCTGCTTTCCAACTTTTTGATTTCATAACCCAGGCATTATCTCACTCAGCTGTAAGTGCCTGCAAGGTGCTGGGAATTTGGCGAAGAATGAACCTGTTCTGTACCCTCAAGGGCCACCTCATTTCCTACTAGGCCTCATTCCCAGCAGACTCCTGGAGTCCTTCCCTTGAACACAGATGTCCCACATTCCTGCTCTCTGCCCATTCATTCCCTGGAGTTCTGGGGCTGGGGGCTGGGATTGGACACCAGCCCTTTGTCTAAGGGTCAATCATGGCCTCTATGTGGCAGTGGAGGTCCTGATAGGGCAAGAGGGGGCCGGCACTCTCTTGCCTTATCAGGACTTTAGCCCCTGGATCTGTCCCTCCAGGTCACCCCTTCCTTGTCTGGCCTCCCTGTGCCTCTCTCCCAGAGACCAGGCCTTGACAGCTCCACAAAGCCGTTACACATGAGCTGGCTGTGCTGGCTCGTCTTTATTCCTGCAGCGCCCCGTTTCCCTGGCCACCCCTCCGTCTCCCACTGGAGATTTATTTCCTCGAGTTCCCACACATCAGCCTGGAGAGATGGGAAGAACCTCTGGGGATGGATGGGTTTGGAAACGCTGGAGCCACTGGGCCCAACTAGGAGCCTGAGACCTGGGCCCTGTTGTCCCTGGAGACTTCAGGTCCATCTACGCCCTCCACTCTGGTCCCACAGGGTCAGAACCCTGCCCAGTCCCCTCACCCATTTGTGTCCTTGGACTTCTGGGAAGCAGACAGCCCTCCTCTCCCCCCCTGCCACCCACTGTCCATGCCTGGGCATCCCCTGATCCCCTTTCCTGGGCACAGGCTGAATAGAGCCTTGTTCTCCACCGCCGGTGGCGCCACACAGCAAGGGCAGCCCCTAGGGGGCTGTGCTGCTTTTATCCCAAGATGCCAGGCTGTCAGGCTGGGGTGCAATGCAAGCCCCCTGCTCAATGGGCTTCTCGGAAGGCATTTGAGGGGGGCTGGGGTGCGGCGGGAAGCAGGCACTGTGCCCACCCCGAACATTGTGTCTGTGCCAAGGTGAGTCATTCACTGGGCATGAAGAGGAGGCCCTGGGGGGCGGCCAGCCCAATGCTGCCAGGTCTGCTTGCAGACAAGGCCTGGCTGTCTGCCTCCTCCCCAGCTCACAGAGCCAGCTCAGGCCCCCGAGCCTCTGTCAGAGCAGCGTCCCCTACTCCACACCAGGATATGTTCTTTTTTTTTTTTTTTTTTTTTTTGTCTTTTGAGACAGGGTCTCACTGTTGCCCAGGCTG
CAAGAAGGGCTGCCTGGAGGAGGCAGGCTGGCCCACAGGCAGGGCTACCTTGGAGCGGTACCACTCTTCGGCTTCATGCATGTTGCTGGACGCCATTGCCTCATACTGCGTGCGGATCTCTTTCAGGGCTGCGGTGAGGTCTGGCTTGGCCACGTCAAGCTCCACATGGACCTGCTGTCGGGCCAGCTGCTCCTGGAGTTCCCGAACCTCCTGACCAGGGTGAGAGAAGCGGTACCAGGGCTCAGGGTACAGGCCACAGCTGGGGTTCCCCACGCCATTGTGTCCTCTTCTGCCTGCCCCTCGGCCAGGAGTTCGAATGCTCTCTTGTCTCTTTCCGTCTCCCTTAGTGTCTTTCTGTTTGTCTTTCATTTCCTGTCTCTACCTGCCAATCTCTGTTTCTCTCCTCTCTCTGAGTGTCTCTCTCAGTCTCAGCTTCTCTGTCTCTGTCTCTCCCTCTCTCAGTTGCAATCTCTGTGTTGAGCTTTCCTCCCTCTGCCCTGGCCTCACCTCCTCGTGGATCTTCCTCAAGAACCGGATCTCCTCCTCCAGCGACTCAATCTTCCTCTCCAGATCCAGACGGGCCAGGGTGGCTTCATCTGCTTCCTGGAGTGGCAGGAGGGGTGAGGAGTAGAGGGCCACTGGGGCCCCAGGCTCCTTCTCCCCATTCCTCAGCCTTGCCTTACCCCTCCTTCTGGGGCAGTGGGGAGCAGCACATTGCTCTGGCGGGCTGAGCTTGGGGGCTGTGTTTGGGTGGGTGGCCATCAATCCTTTCCTCCCTCCCCTGCCCCTCCCCTCCACCTCCCTGACCTGTCTATAGGCAGCCAGGTTGTTCTCGGCTTCCAGCCTCAGGTTGGTTTCATCCTGGAGCCTGGAGTGGGGGGACACATTCCTGGGTCCAGGCTCTTCTGAGGACACTTGAATACCTGCCTCAGTCTCCCTTGAGGCAGCTGTCACAGAGACCACCCCCACCCAGGACCAGTAGAGCAGCAGGAGGATTAAGGGTTGGGGGGCCTTAGACAGAGGACTTGTCTGGAGGATGAGCAGATGTGGGCTTTTGCCTTAACTCATTACTAAGGTGCCTTATCAGGGTTGGTGCACCTGCTTCTGCTCACACAGGCGCATCCACAAGCATACACTCACTGTTGCACACACACACACACACACGCACATGTCCTCCTGCACTTGAAGGCACACATGCATGTCCTGTCAGCTCAGTGAAGCGCCATGCCCCTGGGGATTCCTCTGATCCCAGGTAACCACCTTTTGAAATGAATTTTATTATGACCACCGCTTCACAGCTGTGCAAGTCAAAGTAACTTGATGGGGGTCACAAGCTGGTGGCAGGCAGTCACCTGTGCTTTGCGCCCAGACCTGCCTGCTCTTTCCCTCACTTTCTTCACCCCAGAATCCAATCTCCCTCATGGACATCAACCTTCTCCGCTTCCAACTCCTCCTTTATATGGACACAGGCTCAGAATAGGTGAGCTCGCTGCCCACAGTCACAAAGCCCAGCCATGAATGAAACACAGGGGCCCCGCTGCTCCTGCACTGCTTTCCCCAGTAGGGAGGTGCTGAGGGGACCCTGGACTCCTGGCAGAAGGCATGCGGGCATCAGATCCCCGGGGCCCTGGGCCTGTTTCTGGTCCCTCCCATCATGTTGGGGGGCAAGGATAGTGCCCCATCAAGAGGTAGGGAGGCCCAGGGAGCAGGGAGGTTCGGCCCCTCCCTGAGACTTCTCGGGCACTCCTTCTTGGGGATTCAGCCCCTTCTGCTCACAAGGCCCCCCTTCCCCATCCCCTCCTCACTTCTGCCTCACAGTGGCCAGGTCCTGTGCCAGATTGTCCCTCTCAACCTCCAGCCGGGCGCTGTTGGCGGTGAGTTGATCGAGCCGCAGCCGCAGCTCTCGCAGCTCAGCCTGGTAGACGTCTGCCAGCTTGGTGGGCTCCTTGGCCCGCAGCTGGTTCAGCTCAGCAGCCAGCGCCTTGTTTTGCTGTTCCAGGAAGCGAACCTTCTCGATGTAGCTGGCAAAGCGGTCATTGAGCTCCATCGTCTCTGCCCGCTCACTGGCCCGGGTCTCCTTGAAGCCAGCATTGAGTGCCCCAGCCAGGGAGAAATCCACCCGGGTCGGGAGTGGAGGGGGCATTCGAGCCAGGGAGAGGCGGGTGCCAGGACCCAGACGGCGGCCAGGAGCCAGGCCCCCCACCATCATCTCCCCTGAGGAGACGTAGGAGCGGCGAGCAGCGGAGGTGATGCGTCTCCTCTCCATCCTGCTCTGGCTCTGCTCGCTCCTGGGATGCGAGGGCTTTATGAAGGAGTGGGCTAGACTGGCGATGCCCGGGTGCCCCTGGCAACACCCCCTGGCATAGCCTGAGGGGGTGGGGTTGGGCCGCAGCCCAGCTATGGGGAGAGCTCCCCTCACCCCACTGAGGTCACTGTGCCCAGAGGCAGAGCTTCCTGGGCACGCCAACTCCTGCATGAGGCAGGTGGTACCTGGAGCCAGACCATGGGTCTGGGGCCCTGACCGCTGAAGCAAGAGGACCCTCTCTCTAGGAAGGTGGGTCAAGAAAGGGTTGGTTGGACCATGATGAATACTTACAATTATTATGCATCAATTAAAAAGGAAGGAAAGGGCTGAGTGGGGTGGCTCATGCTTGTAATCCCAGCACTTTGGGAGGCTGAGGCTGGAGGATTGCTTGAGCCCAGTAGGTTGAGGCTGCAGTGAGCTGTGTTTGCGCCACTCCAGCCTGGGCAACAGAGAGAGACCTTGTCTCACAAAAAAAAAAAAAAAAAAGGGAAGGAAGGGCTGTACCAGATGACCTCTGACCTGCTTTCCAACTTTTTGATTTCATAACCCAGGCATTATCTCACTCAGCTGTAAGTGCCTGCAAGGTGCTGGGAATTTGGCGAAGAATGAACCTGTTCTGTACCCTCAAGGGCCACCTCATTTCCTACTAGGCCTCATTCCCAGCAGACTCCTGGAGTCCTTCCCTTGAACACAGATGTCCCACATTCCTGCTCTCTGCCCATTCATTCCCTGGAGTTCTGGGGCTGGGGGCTGGGATTGGACACCAGCCCTTTGTCTAAGGGTCAATCATGGCCTCTATGTGGCAGTGGAGGTCCTGATAGGGCAAGAGGGGGCCGGCACTCTCTTGCCTTATCAGGACTTTAGCCCCTGGATCTGTCCCTCCAGGTCACCCCTTCCTTGTCTGGCCTCCCTGTGCCTCTCTCCCAGAGACCAGGCCTTGACAGCTCCACAAAGCCGTTACACATGAGCTGGCTGTGCTGGCTCGTCTTTATTCCTGCAGCGCCCCGTTTCCCTGGCCACCCCTCCGTCTCCCACTGGAGATTTATTTCCTCGAGTTCCCACACATCAGCCTGGAGAGATGGGAAGAACCTCTGGGGATGGATGGGTTTGGAAACGCTGGAGCCACTGGGCCCAACTAGGAGCCTGAGACCTGGGCCCTGTTGTCCCTGGAGACTTCAGGTCCATCTACGCCCTCCACTCTGGTCCCACAGGGTCAGAACCCTGCCCAGTCCCCTCACCCATTTGTGTCCTTGGACTTCTGGGAAGCAGACAGCCCTCCTCTCCCCCCCTGCCACCCACTGTCCATGCCTGGGCATCCCCTGATCCCCTTTCCTGGGCACAGGCTGAATAGAGCCTTGTTCTCCACCGCCGGTGGCGCCACACAGCAAGGGCAGCCCCTAGGGGGCTGTGCTGCTTTTATCCCAAGATGCCAGGCTGTCAGGCTGGGGTGCAATGCAAGCCCCCTGCTCAATGGGCTTCTCGGAAGGCATTTGAGGGGGGCTGGGGTGCGGCGGGAAGCAGGCACTGTGCCCACCCCGAACATTGTGTCTGTGCCAAGGTGAGTCATTCACTGGGCATGAAGAGGAGGCCCTGGGGGGCGGCCAGCCCAATGCTGCCAGGTCTGCTTGCAGACAAGGCCTGGCTGTCTGCCTCCTCCCCAGCTCACAGAGCCAGCTCAGGCCCCCGAGCCTCTGTCAGAGCAGCGTCCCCTACTCCACACCAGGATATGTTCTTTTTTTTTTTTTTTTTTTTTTTGTCTTTTGAGACAGGGTCTCACTGTTGCCCAGGCTG
Task1_train_24788
A change on Chromosome 17 affects gene GFAP (glial fibrillary acidic protein). Identify whether the variant is neutral or disease-linked. Mention the disease if applicable.
Pathogenic; Alexander disease
AAGAAGGGCTGCCTGGAGGAGGCAGGCTGGCCCACAGGCAGGGCTACCTTGGAGCGGTACCACTCTTCGGCTTCATGCATGTTGCTGGACGCCATTGCCTCATACTGCGTGCGGATCTCTTTCAGGGCTGCGGTGAGGTCTGGCTTGGCCACGTCAAGCTCCACATGGACCTGCTGTCGGGCCAGCTGCTCCTGGAGTTCCCGAACCTCCTGACCAGGGTGAGAGAAGCGGTACCAGGGCTCAGGGTACAGGCCACAGCTGGGGTTCCCCACGCCATTGTGTCCTCTTCTGCCTGCCCCTCGGCCAGGAGTTCGAATGCTCTCTTGTCTCTTTCCGTCTCCCTTAGTGTCTTTCTGTTTGTCTTTCATTTCCTGTCTCTACCTGCCAATCTCTGTTTCTCTCCTCTCTCTGAGTGTCTCTCTCAGTCTCAGCTTCTCTGTCTCTGTCTCTCCCTCTCTCAGTTGCAATCTCTGTGTTGAGCTTTCCTCCCTCTGCCCTGGCCTCACCTCCTCGTGGATCTTCCTCAAGAACCGGATCTCCTCCTCCAGCGACTCAATCTTCCTCTCCAGATCCAGACGGGCCAGGGTGGCTTCATCTGCTTCCTGGAGTGGCAGGAGGGGTGAGGAGTAGAGGGCCACTGGGGCCCCAGGCTCCTTCTCCCCATTCCTCAGCCTTGCCTTACCCCTCCTTCTGGGGCAGTGGGGAGCAGCACATTGCTCTGGCGGGCTGAGCTTGGGGGCTGTGTTTGGGTGGGTGGCCATCAATCCTTTCCTCCCTCCCCTGCCCCTCCCCTCCACCTCCCTGACCTGTCTATAGGCAGCCAGGTTGTTCTCGGCTTCCAGCCTCAGGTTGGTTTCATCCTGGAGCCTGGAGTGGGGGGACACATTCCTGGGTCCAGGCTCTTCTGAGGACACTTGAATACCTGCCTCAGTCTCCCTTGAGGCAGCTGTCACAGAGACCACCCCCACCCAGGACCAGTAGAGCAGCAGGAGGATTAAGGGTTGGGGGGCCTTAGACAGAGGACTTGTCTGGAGGATGAGCAGATGTGGGCTTTTGCCTTAACTCATTACTAAGGTGCCTTATCAGGGTTGGTGCACCTGCTTCTGCTCACACAGGCGCATCCACAAGCATACACTCACTGTTGCACACACACACACACACACGCACATGTCCTCCTGCACTTGAAGGCACACATGCATGTCCTGTCAGCTCAGTGAAGCGCCATGCCCCTGGGGATTCCTCTGATCCCAGGTAACCACCTTTTGAAATGAATTTTATTATGACCACCGCTTCACAGCTGTGCAAGTCAAAGTAACTTGATGGGGGTCACAAGCTGGTGGCAGGCAGTCACCTGTGCTTTGCGCCCAGACCTGCCTGCTCTTTCCCTCACTTTCTTCACCCCAGAATCCAATCTCCCTCATGGACATCAACCTTCTCCGCTTCCAACTCCTCCTTTATATGGACACAGGCTCAGAATAGGTGAGCTCGCTGCCCACAGTCACAAAGCCCAGCCATGAATGAAACACAGGGGCCCCGCTGCTCCTGCACTGCTTTCCCCAGTAGGGAGGTGCTGAGGGGACCCTGGACTCCTGGCAGAAGGCATGCGGGCATCAGATCCCCGGGGCCCTGGGCCTGTTTCTGGTCCCTCCCATCATGTTGGGGGGCAAGGATAGTGCCCCATCAAGAGGTAGGGAGGCCCAGGGAGCAGGGAGGTTCGGCCCCTCCCTGAGACTTCTCGGGCACTCCTTCTTGGGGATTCAGCCCCTTCTGCTCACAAGGCCCCCCTTCCCCATCCCCTCCTCACTTCTGCCTCACAGTGGCCAGGTCCTGTGCCAGATTGTCCCTCTCAACCTCCAGCCGGGCGCTGTTGGCGGTGAGTTGATCGAGCCGCAGCCGCAGCTCTCGCAGCTCAGCCTGGTAGACGTCTGCCAGCTTGGTGGGCTCCTTGGCCCGCAGCTGGTTCAGCTCAGCAGCCAGCGCCTTGTTTTGCTGTTCCAGGAAGCGAACCTTCTCGATGTAGCTGGCAAAGCGGTCATTGAGCTCCATCATCTCTGCCCGCTCACTGGCCCGGGTCTCCTTGAAGCCAGCATTGAGTGCCCCAGCCAGGGAGAAATCCACCCGGGTCGGGAGTGGAGGGGGCATTCGAGCCAGGGAGAGGCGGGTGCCAGGACCCAGACGGCGGCCAGGAGCCAGGCCCCCCACCATCATCTCCCCTGAGGAGACGTAGGAGCGGCGAGCAGCGGAGGTGATGCGTCTCCTCTCCATCCTGCTCTGGCTCTGCTCGCTCCTGGGATGCGAGGGCTTTATGAAGGAGTGGGCTAGACTGGCGATGCCCGGGTGCCCCTGGCAACACCCCCTGGCATAGCCTGAGGGGGTGGGGTTGGGCCGCAGCCCAGCTATGGGGAGAGCTCCCCTCACCCCACTGAGGTCACTGTGCCCAGAGGCAGAGCTTCCTGGGCACGCCAACTCCTGCATGAGGCAGGTGGTACCTGGAGCCAGACCATGGGTCTGGGGCCCTGACCGCTGAAGCAAGAGGACCCTCTCTCTAGGAAGGTGGGTCAAGAAAGGGTTGGTTGGACCATGATGAATACTTACAATTATTATGCATCAATTAAAAAGGAAGGAAAGGGCTGAGTGGGGTGGCTCATGCTTGTAATCCCAGCACTTTGGGAGGCTGAGGCTGGAGGATTGCTTGAGCCCAGTAGGTTGAGGCTGCAGTGAGCTGTGTTTGCGCCACTCCAGCCTGGGCAACAGAGAGAGACCTTGTCTCACAAAAAAAAAAAAAAAAAAGGGAAGGAAGGGCTGTACCAGATGACCTCTGACCTGCTTTCCAACTTTTTGATTTCATAACCCAGGCATTATCTCACTCAGCTGTAAGTGCCTGCAAGGTGCTGGGAATTTGGCGAAGAATGAACCTGTTCTGTACCCTCAAGGGCCACCTCATTTCCTACTAGGCCTCATTCCCAGCAGACTCCTGGAGTCCTTCCCTTGAACACAGATGTCCCACATTCCTGCTCTCTGCCCATTCATTCCCTGGAGTTCTGGGGCTGGGGGCTGGGATTGGACACCAGCCCTTTGTCTAAGGGTCAATCATGGCCTCTATGTGGCAGTGGAGGTCCTGATAGGGCAAGAGGGGGCCGGCACTCTCTTGCCTTATCAGGACTTTAGCCCCTGGATCTGTCCCTCCAGGTCACCCCTTCCTTGTCTGGCCTCCCTGTGCCTCTCTCCCAGAGACCAGGCCTTGACAGCTCCACAAAGCCGTTACACATGAGCTGGCTGTGCTGGCTCGTCTTTATTCCTGCAGCGCCCCGTTTCCCTGGCCACCCCTCCGTCTCCCACTGGAGATTTATTTCCTCGAGTTCCCACACATCAGCCTGGAGAGATGGGAAGAACCTCTGGGGATGGATGGGTTTGGAAACGCTGGAGCCACTGGGCCCAACTAGGAGCCTGAGACCTGGGCCCTGTTGTCCCTGGAGACTTCAGGTCCATCTACGCCCTCCACTCTGGTCCCACAGGGTCAGAACCCTGCCCAGTCCCCTCACCCATTTGTGTCCTTGGACTTCTGGGAAGCAGACAGCCCTCCTCTCCCCCCCTGCCACCCACTGTCCATGCCTGGGCATCCCCTGATCCCCTTTCCTGGGCACAGGCTGAATAGAGCCTTGTTCTCCACCGCCGGTGGCGCCACACAGCAAGGGCAGCCCCTAGGGGGCTGTGCTGCTTTTATCCCAAGATGCCAGGCTGTCAGGCTGGGGTGCAATGCAAGCCCCCTGCTCAATGGGCTTCTCGGAAGGCATTTGAGGGGGGCTGGGGTGCGGCGGGAAGCAGGCACTGTGCCCACCCCGAACATTGTGTCTGTGCCAAGGTGAGTCATTCACTGGGCATGAAGAGGAGGCCCTGGGGGGCGGCCAGCCCAATGCTGCCAGGTCTGCTTGCAGACAAGGCCTGGCTGTCTGCCTCCTCCCCAGCTCACAGAGCCAGCTCAGGCCCCCGAGCCTCTGTCAGAGCAGCGTCCCCTACTCCACACCAGGATATGTTCTTTTTTTTTTTTTTTTTTTTTTTGTCTTTTGAGACAGGGTCTCACTGTTGCCCAGGCTGG
AAGAAGGGCTGCCTGGAGGAGGCAGGCTGGCCCACAGGCAGGGCTACCTTGGAGCGGTACCACTCTTCGGCTTCATGCATGTTGCTGGACGCCATTGCCTCATACTGCGTGCGGATCTCTTTCAGGGCTGCGGTGAGGTCTGGCTTGGCCACGTCAAGCTCCACATGGACCTGCTGTCGGGCCAGCTGCTCCTGGAGTTCCCGAACCTCCTGACCAGGGTGAGAGAAGCGGTACCAGGGCTCAGGGTACAGGCCACAGCTGGGGTTCCCCACGCCATTGTGTCCTCTTCTGCCTGCCCCTCGGCCAGGAGTTCGAATGCTCTCTTGTCTCTTTCCGTCTCCCTTAGTGTCTTTCTGTTTGTCTTTCATTTCCTGTCTCTACCTGCCAATCTCTGTTTCTCTCCTCTCTCTGAGTGTCTCTCTCAGTCTCAGCTTCTCTGTCTCTGTCTCTCCCTCTCTCAGTTGCAATCTCTGTGTTGAGCTTTCCTCCCTCTGCCCTGGCCTCACCTCCTCGTGGATCTTCCTCAAGAACCGGATCTCCTCCTCCAGCGACTCAATCTTCCTCTCCAGATCCAGACGGGCCAGGGTGGCTTCATCTGCTTCCTGGAGTGGCAGGAGGGGTGAGGAGTAGAGGGCCACTGGGGCCCCAGGCTCCTTCTCCCCATTCCTCAGCCTTGCCTTACCCCTCCTTCTGGGGCAGTGGGGAGCAGCACATTGCTCTGGCGGGCTGAGCTTGGGGGCTGTGTTTGGGTGGGTGGCCATCAATCCTTTCCTCCCTCCCCTGCCCCTCCCCTCCACCTCCCTGACCTGTCTATAGGCAGCCAGGTTGTTCTCGGCTTCCAGCCTCAGGTTGGTTTCATCCTGGAGCCTGGAGTGGGGGGACACATTCCTGGGTCCAGGCTCTTCTGAGGACACTTGAATACCTGCCTCAGTCTCCCTTGAGGCAGCTGTCACAGAGACCACCCCCACCCAGGACCAGTAGAGCAGCAGGAGGATTAAGGGTTGGGGGGCCTTAGACAGAGGACTTGTCTGGAGGATGAGCAGATGTGGGCTTTTGCCTTAACTCATTACTAAGGTGCCTTATCAGGGTTGGTGCACCTGCTTCTGCTCACACAGGCGCATCCACAAGCATACACTCACTGTTGCACACACACACACACACACGCACATGTCCTCCTGCACTTGAAGGCACACATGCATGTCCTGTCAGCTCAGTGAAGCGCCATGCCCCTGGGGATTCCTCTGATCCCAGGTAACCACCTTTTGAAATGAATTTTATTATGACCACCGCTTCACAGCTGTGCAAGTCAAAGTAACTTGATGGGGGTCACAAGCTGGTGGCAGGCAGTCACCTGTGCTTTGCGCCCAGACCTGCCTGCTCTTTCCCTCACTTTCTTCACCCCAGAATCCAATCTCCCTCATGGACATCAACCTTCTCCGCTTCCAACTCCTCCTTTATATGGACACAGGCTCAGAATAGGTGAGCTCGCTGCCCACAGTCACAAAGCCCAGCCATGAATGAAACACAGGGGCCCCGCTGCTCCTGCACTGCTTTCCCCAGTAGGGAGGTGCTGAGGGGACCCTGGACTCCTGGCAGAAGGCATGCGGGCATCAGATCCCCGGGGCCCTGGGCCTGTTTCTGGTCCCTCCCATCATGTTGGGGGGCAAGGATAGTGCCCCATCAAGAGGTAGGGAGGCCCAGGGAGCAGGGAGGTTCGGCCCCTCCCTGAGACTTCTCGGGCACTCCTTCTTGGGGATTCAGCCCCTTCTGCTCACAAGGCCCCCCTTCCCCATCCCCTCCTCACTTCTGCCTCACAGTGGCCAGGTCCTGTGCCAGATTGTCCCTCTCAACCTCCAGCCGGGCGCTGTTGGCGGTGAGTTGATCGAGCCGCAGCCGCAGCTCTCGCAGCTCAGCCTGGTAGACGTCTGCCAGCTTGGTGGGCTCCTTGGCCCGCAGCTGGTTCAGCTCAGCAGCCAGCGCCTTGTTTTGCTGTTCCAGGAAGCGAACCTTCTCGATGTAGCTGGCAAAGCGGTCATTGAGCTCCATCACCTCTGCCCGCTCACTGGCCCGGGTCTCCTTGAAGCCAGCATTGAGTGCCCCAGCCAGGGAGAAATCCACCCGGGTCGGGAGTGGAGGGGGCATTCGAGCCAGGGAGAGGCGGGTGCCAGGACCCAGACGGCGGCCAGGAGCCAGGCCCCCCACCATCATCTCCCCTGAGGAGACGTAGGAGCGGCGAGCAGCGGAGGTGATGCGTCTCCTCTCCATCCTGCTCTGGCTCTGCTCGCTCCTGGGATGCGAGGGCTTTATGAAGGAGTGGGCTAGACTGGCGATGCCCGGGTGCCCCTGGCAACACCCCCTGGCATAGCCTGAGGGGGTGGGGTTGGGCCGCAGCCCAGCTATGGGGAGAGCTCCCCTCACCCCACTGAGGTCACTGTGCCCAGAGGCAGAGCTTCCTGGGCACGCCAACTCCTGCATGAGGCAGGTGGTACCTGGAGCCAGACCATGGGTCTGGGGCCCTGACCGCTGAAGCAAGAGGACCCTCTCTCTAGGAAGGTGGGTCAAGAAAGGGTTGGTTGGACCATGATGAATACTTACAATTATTATGCATCAATTAAAAAGGAAGGAAAGGGCTGAGTGGGGTGGCTCATGCTTGTAATCCCAGCACTTTGGGAGGCTGAGGCTGGAGGATTGCTTGAGCCCAGTAGGTTGAGGCTGCAGTGAGCTGTGTTTGCGCCACTCCAGCCTGGGCAACAGAGAGAGACCTTGTCTCACAAAAAAAAAAAAAAAAAAGGGAAGGAAGGGCTGTACCAGATGACCTCTGACCTGCTTTCCAACTTTTTGATTTCATAACCCAGGCATTATCTCACTCAGCTGTAAGTGCCTGCAAGGTGCTGGGAATTTGGCGAAGAATGAACCTGTTCTGTACCCTCAAGGGCCACCTCATTTCCTACTAGGCCTCATTCCCAGCAGACTCCTGGAGTCCTTCCCTTGAACACAGATGTCCCACATTCCTGCTCTCTGCCCATTCATTCCCTGGAGTTCTGGGGCTGGGGGCTGGGATTGGACACCAGCCCTTTGTCTAAGGGTCAATCATGGCCTCTATGTGGCAGTGGAGGTCCTGATAGGGCAAGAGGGGGCCGGCACTCTCTTGCCTTATCAGGACTTTAGCCCCTGGATCTGTCCCTCCAGGTCACCCCTTCCTTGTCTGGCCTCCCTGTGCCTCTCTCCCAGAGACCAGGCCTTGACAGCTCCACAAAGCCGTTACACATGAGCTGGCTGTGCTGGCTCGTCTTTATTCCTGCAGCGCCCCGTTTCCCTGGCCACCCCTCCGTCTCCCACTGGAGATTTATTTCCTCGAGTTCCCACACATCAGCCTGGAGAGATGGGAAGAACCTCTGGGGATGGATGGGTTTGGAAACGCTGGAGCCACTGGGCCCAACTAGGAGCCTGAGACCTGGGCCCTGTTGTCCCTGGAGACTTCAGGTCCATCTACGCCCTCCACTCTGGTCCCACAGGGTCAGAACCCTGCCCAGTCCCCTCACCCATTTGTGTCCTTGGACTTCTGGGAAGCAGACAGCCCTCCTCTCCCCCCCTGCCACCCACTGTCCATGCCTGGGCATCCCCTGATCCCCTTTCCTGGGCACAGGCTGAATAGAGCCTTGTTCTCCACCGCCGGTGGCGCCACACAGCAAGGGCAGCCCCTAGGGGGCTGTGCTGCTTTTATCCCAAGATGCCAGGCTGTCAGGCTGGGGTGCAATGCAAGCCCCCTGCTCAATGGGCTTCTCGGAAGGCATTTGAGGGGGGCTGGGGTGCGGCGGGAAGCAGGCACTGTGCCCACCCCGAACATTGTGTCTGTGCCAAGGTGAGTCATTCACTGGGCATGAAGAGGAGGCCCTGGGGGGCGGCCAGCCCAATGCTGCCAGGTCTGCTTGCAGACAAGGCCTGGCTGTCTGCCTCCTCCCCAGCTCACAGAGCCAGCTCAGGCCCCCGAGCCTCTGTCAGAGCAGCGTCCCCTACTCCACACCAGGATATGTTCTTTTTTTTTTTTTTTTTTTTTTTGTCTTTTGAGACAGGGTCTCACTGTTGCCCAGGCTGG
Task1_train_24789
A sequence alteration has been identified in GFAP (glial fibrillary acidic protein) on Chromosome 17. Is it disease-inducing or harmless?
Pathogenic; Alexander disease
TGCCTGGAGGAGGCAGGCTGGCCCACAGGCAGGGCTACCTTGGAGCGGTACCACTCTTCGGCTTCATGCATGTTGCTGGACGCCATTGCCTCATACTGCGTGCGGATCTCTTTCAGGGCTGCGGTGAGGTCTGGCTTGGCCACGTCAAGCTCCACATGGACCTGCTGTCGGGCCAGCTGCTCCTGGAGTTCCCGAACCTCCTGACCAGGGTGAGAGAAGCGGTACCAGGGCTCAGGGTACAGGCCACAGCTGGGGTTCCCCACGCCATTGTGTCCTCTTCTGCCTGCCCCTCGGCCAGGAGTTCGAATGCTCTCTTGTCTCTTTCCGTCTCCCTTAGTGTCTTTCTGTTTGTCTTTCATTTCCTGTCTCTACCTGCCAATCTCTGTTTCTCTCCTCTCTCTGAGTGTCTCTCTCAGTCTCAGCTTCTCTGTCTCTGTCTCTCCCTCTCTCAGTTGCAATCTCTGTGTTGAGCTTTCCTCCCTCTGCCCTGGCCTCACCTCCTCGTGGATCTTCCTCAAGAACCGGATCTCCTCCTCCAGCGACTCAATCTTCCTCTCCAGATCCAGACGGGCCAGGGTGGCTTCATCTGCTTCCTGGAGTGGCAGGAGGGGTGAGGAGTAGAGGGCCACTGGGGCCCCAGGCTCCTTCTCCCCATTCCTCAGCCTTGCCTTACCCCTCCTTCTGGGGCAGTGGGGAGCAGCACATTGCTCTGGCGGGCTGAGCTTGGGGGCTGTGTTTGGGTGGGTGGCCATCAATCCTTTCCTCCCTCCCCTGCCCCTCCCCTCCACCTCCCTGACCTGTCTATAGGCAGCCAGGTTGTTCTCGGCTTCCAGCCTCAGGTTGGTTTCATCCTGGAGCCTGGAGTGGGGGGACACATTCCTGGGTCCAGGCTCTTCTGAGGACACTTGAATACCTGCCTCAGTCTCCCTTGAGGCAGCTGTCACAGAGACCACCCCCACCCAGGACCAGTAGAGCAGCAGGAGGATTAAGGGTTGGGGGGCCTTAGACAGAGGACTTGTCTGGAGGATGAGCAGATGTGGGCTTTTGCCTTAACTCATTACTAAGGTGCCTTATCAGGGTTGGTGCACCTGCTTCTGCTCACACAGGCGCATCCACAAGCATACACTCACTGTTGCACACACACACACACACACGCACATGTCCTCCTGCACTTGAAGGCACACATGCATGTCCTGTCAGCTCAGTGAAGCGCCATGCCCCTGGGGATTCCTCTGATCCCAGGTAACCACCTTTTGAAATGAATTTTATTATGACCACCGCTTCACAGCTGTGCAAGTCAAAGTAACTTGATGGGGGTCACAAGCTGGTGGCAGGCAGTCACCTGTGCTTTGCGCCCAGACCTGCCTGCTCTTTCCCTCACTTTCTTCACCCCAGAATCCAATCTCCCTCATGGACATCAACCTTCTCCGCTTCCAACTCCTCCTTTATATGGACACAGGCTCAGAATAGGTGAGCTCGCTGCCCACAGTCACAAAGCCCAGCCATGAATGAAACACAGGGGCCCCGCTGCTCCTGCACTGCTTTCCCCAGTAGGGAGGTGCTGAGGGGACCCTGGACTCCTGGCAGAAGGCATGCGGGCATCAGATCCCCGGGGCCCTGGGCCTGTTTCTGGTCCCTCCCATCATGTTGGGGGGCAAGGATAGTGCCCCATCAAGAGGTAGGGAGGCCCAGGGAGCAGGGAGGTTCGGCCCCTCCCTGAGACTTCTCGGGCACTCCTTCTTGGGGATTCAGCCCCTTCTGCTCACAAGGCCCCCCTTCCCCATCCCCTCCTCACTTCTGCCTCACAGTGGCCAGGTCCTGTGCCAGATTGTCCCTCTCAACCTCCAGCCGGGCGCTGTTGGCGGTGAGTTGATCGAGCCGCAGCCGCAGCTCTCGCAGCTCAGCCTGGTAGACGTCTGCCAGCTTGGTGGGCTCCTTGGCCCGCAGCTGGTTCAGCTCAGCAGCCAGCGCCTTGTTTTGCTGTTCCAGGAAGCGAACCTTCTCGATGTAGCTGGCAAAGCGGTCATTGAGCTCCATCATCTCTGCCCGCTCACTGGCCCGGGTCTCCTTGAAGCCAGCATTGAGTGCCCCAGCCAGGGAGAAATCCACCCGGGTCGGGAGTGGAGGGGGCATTCGAGCCAGGGAGAGGCGGGTGCCAGGACCCAGACGGCGGCCAGGAGCCAGGCCCCCCACCATCATCTCCCCTGAGGAGACGTAGGAGCGGCGAGCAGCGGAGGTGATGCGTCTCCTCTCCATCCTGCTCTGGCTCTGCTCGCTCCTGGGATGCGAGGGCTTTATGAAGGAGTGGGCTAGACTGGCGATGCCCGGGTGCCCCTGGCAACACCCCCTGGCATAGCCTGAGGGGGTGGGGTTGGGCCGCAGCCCAGCTATGGGGAGAGCTCCCCTCACCCCACTGAGGTCACTGTGCCCAGAGGCAGAGCTTCCTGGGCACGCCAACTCCTGCATGAGGCAGGTGGTACCTGGAGCCAGACCATGGGTCTGGGGCCCTGACCGCTGAAGCAAGAGGACCCTCTCTCTAGGAAGGTGGGTCAAGAAAGGGTTGGTTGGACCATGATGAATACTTACAATTATTATGCATCAATTAAAAAGGAAGGAAAGGGCTGAGTGGGGTGGCTCATGCTTGTAATCCCAGCACTTTGGGAGGCTGAGGCTGGAGGATTGCTTGAGCCCAGTAGGTTGAGGCTGCAGTGAGCTGTGTTTGCGCCACTCCAGCCTGGGCAACAGAGAGAGACCTTGTCTCACAAAAAAAAAAAAAAAAAAGGGAAGGAAGGGCTGTACCAGATGACCTCTGACCTGCTTTCCAACTTTTTGATTTCATAACCCAGGCATTATCTCACTCAGCTGTAAGTGCCTGCAAGGTGCTGGGAATTTGGCGAAGAATGAACCTGTTCTGTACCCTCAAGGGCCACCTCATTTCCTACTAGGCCTCATTCCCAGCAGACTCCTGGAGTCCTTCCCTTGAACACAGATGTCCCACATTCCTGCTCTCTGCCCATTCATTCCCTGGAGTTCTGGGGCTGGGGGCTGGGATTGGACACCAGCCCTTTGTCTAAGGGTCAATCATGGCCTCTATGTGGCAGTGGAGGTCCTGATAGGGCAAGAGGGGGCCGGCACTCTCTTGCCTTATCAGGACTTTAGCCCCTGGATCTGTCCCTCCAGGTCACCCCTTCCTTGTCTGGCCTCCCTGTGCCTCTCTCCCAGAGACCAGGCCTTGACAGCTCCACAAAGCCGTTACACATGAGCTGGCTGTGCTGGCTCGTCTTTATTCCTGCAGCGCCCCGTTTCCCTGGCCACCCCTCCGTCTCCCACTGGAGATTTATTTCCTCGAGTTCCCACACATCAGCCTGGAGAGATGGGAAGAACCTCTGGGGATGGATGGGTTTGGAAACGCTGGAGCCACTGGGCCCAACTAGGAGCCTGAGACCTGGGCCCTGTTGTCCCTGGAGACTTCAGGTCCATCTACGCCCTCCACTCTGGTCCCACAGGGTCAGAACCCTGCCCAGTCCCCTCACCCATTTGTGTCCTTGGACTTCTGGGAAGCAGACAGCCCTCCTCTCCCCCCCTGCCACCCACTGTCCATGCCTGGGCATCCCCTGATCCCCTTTCCTGGGCACAGGCTGAATAGAGCCTTGTTCTCCACCGCCGGTGGCGCCACACAGCAAGGGCAGCCCCTAGGGGGCTGTGCTGCTTTTATCCCAAGATGCCAGGCTGTCAGGCTGGGGTGCAATGCAAGCCCCCTGCTCAATGGGCTTCTCGGAAGGCATTTGAGGGGGGCTGGGGTGCGGCGGGAAGCAGGCACTGTGCCCACCCCGAACATTGTGTCTGTGCCAAGGTGAGTCATTCACTGGGCATGAAGAGGAGGCCCTGGGGGGCGGCCAGCCCAATGCTGCCAGGTCTGCTTGCAGACAAGGCCTGGCTGTCTGCCTCCTCCCCAGCTCACAGAGCCAGCTCAGGCCCCCGAGCCTCTGTCAGAGCAGCGTCCCCTACTCCACACCAGGATATGTTCTTTTTTTTTTTTTTTTTTTTTTTGTCTTTTGAGACAGGGTCTCACTGTTGCCCAGGCTGGAGTGCAGTG
TGCCTGGAGGAGGCAGGCTGGCCCACAGGCAGGGCTACCTTGGAGCGGTACCACTCTTCGGCTTCATGCATGTTGCTGGACGCCATTGCCTCATACTGCGTGCGGATCTCTTTCAGGGCTGCGGTGAGGTCTGGCTTGGCCACGTCAAGCTCCACATGGACCTGCTGTCGGGCCAGCTGCTCCTGGAGTTCCCGAACCTCCTGACCAGGGTGAGAGAAGCGGTACCAGGGCTCAGGGTACAGGCCACAGCTGGGGTTCCCCACGCCATTGTGTCCTCTTCTGCCTGCCCCTCGGCCAGGAGTTCGAATGCTCTCTTGTCTCTTTCCGTCTCCCTTAGTGTCTTTCTGTTTGTCTTTCATTTCCTGTCTCTACCTGCCAATCTCTGTTTCTCTCCTCTCTCTGAGTGTCTCTCTCAGTCTCAGCTTCTCTGTCTCTGTCTCTCCCTCTCTCAGTTGCAATCTCTGTGTTGAGCTTTCCTCCCTCTGCCCTGGCCTCACCTCCTCGTGGATCTTCCTCAAGAACCGGATCTCCTCCTCCAGCGACTCAATCTTCCTCTCCAGATCCAGACGGGCCAGGGTGGCTTCATCTGCTTCCTGGAGTGGCAGGAGGGGTGAGGAGTAGAGGGCCACTGGGGCCCCAGGCTCCTTCTCCCCATTCCTCAGCCTTGCCTTACCCCTCCTTCTGGGGCAGTGGGGAGCAGCACATTGCTCTGGCGGGCTGAGCTTGGGGGCTGTGTTTGGGTGGGTGGCCATCAATCCTTTCCTCCCTCCCCTGCCCCTCCCCTCCACCTCCCTGACCTGTCTATAGGCAGCCAGGTTGTTCTCGGCTTCCAGCCTCAGGTTGGTTTCATCCTGGAGCCTGGAGTGGGGGGACACATTCCTGGGTCCAGGCTCTTCTGAGGACACTTGAATACCTGCCTCAGTCTCCCTTGAGGCAGCTGTCACAGAGACCACCCCCACCCAGGACCAGTAGAGCAGCAGGAGGATTAAGGGTTGGGGGGCCTTAGACAGAGGACTTGTCTGGAGGATGAGCAGATGTGGGCTTTTGCCTTAACTCATTACTAAGGTGCCTTATCAGGGTTGGTGCACCTGCTTCTGCTCACACAGGCGCATCCACAAGCATACACTCACTGTTGCACACACACACACACACACGCACATGTCCTCCTGCACTTGAAGGCACACATGCATGTCCTGTCAGCTCAGTGAAGCGCCATGCCCCTGGGGATTCCTCTGATCCCAGGTAACCACCTTTTGAAATGAATTTTATTATGACCACCGCTTCACAGCTGTGCAAGTCAAAGTAACTTGATGGGGGTCACAAGCTGGTGGCAGGCAGTCACCTGTGCTTTGCGCCCAGACCTGCCTGCTCTTTCCCTCACTTTCTTCACCCCAGAATCCAATCTCCCTCATGGACATCAACCTTCTCCGCTTCCAACTCCTCCTTTATATGGACACAGGCTCAGAATAGGTGAGCTCGCTGCCCACAGTCACAAAGCCCAGCCATGAATGAAACACAGGGGCCCCGCTGCTCCTGCACTGCTTTCCCCAGTAGGGAGGTGCTGAGGGGACCCTGGACTCCTGGCAGAAGGCATGCGGGCATCAGATCCCCGGGGCCCTGGGCCTGTTTCTGGTCCCTCCCATCATGTTGGGGGGCAAGGATAGTGCCCCATCAAGAGGTAGGGAGGCCCAGGGAGCAGGGAGGTTCGGCCCCTCCCTGAGACTTCTCGGGCACTCCTTCTTGGGGATTCAGCCCCTTCTGCTCACAAGGCCCCCCTTCCCCATCCCCTCCTCACTTCTGCCTCACAGTGGCCAGGTCCTGTGCCAGATTGTCCCTCTCAACCTCCAGCCGGGCGCTGTTGGCGGTGAGTTGATCGAGCCGCAGCCGCAGCTCTCGCAGCTCAGCCTGGTAGACGTCTGCCAGCTTGGTGGGCTCCTTGGCCCGCAGCTGGTTCAGCTCAGCAGCCAGCGCCTTGTTTTGCTGTTCCAGGAAGCGAACCTTCTCGATGTAGCTGGCAAAGCGGTCATTGAGCTCCATCATCTCTGCCCACTCACTGGCCCGGGTCTCCTTGAAGCCAGCATTGAGTGCCCCAGCCAGGGAGAAATCCACCCGGGTCGGGAGTGGAGGGGGCATTCGAGCCAGGGAGAGGCGGGTGCCAGGACCCAGACGGCGGCCAGGAGCCAGGCCCCCCACCATCATCTCCCCTGAGGAGACGTAGGAGCGGCGAGCAGCGGAGGTGATGCGTCTCCTCTCCATCCTGCTCTGGCTCTGCTCGCTCCTGGGATGCGAGGGCTTTATGAAGGAGTGGGCTAGACTGGCGATGCCCGGGTGCCCCTGGCAACACCCCCTGGCATAGCCTGAGGGGGTGGGGTTGGGCCGCAGCCCAGCTATGGGGAGAGCTCCCCTCACCCCACTGAGGTCACTGTGCCCAGAGGCAGAGCTTCCTGGGCACGCCAACTCCTGCATGAGGCAGGTGGTACCTGGAGCCAGACCATGGGTCTGGGGCCCTGACCGCTGAAGCAAGAGGACCCTCTCTCTAGGAAGGTGGGTCAAGAAAGGGTTGGTTGGACCATGATGAATACTTACAATTATTATGCATCAATTAAAAAGGAAGGAAAGGGCTGAGTGGGGTGGCTCATGCTTGTAATCCCAGCACTTTGGGAGGCTGAGGCTGGAGGATTGCTTGAGCCCAGTAGGTTGAGGCTGCAGTGAGCTGTGTTTGCGCCACTCCAGCCTGGGCAACAGAGAGAGACCTTGTCTCACAAAAAAAAAAAAAAAAAAGGGAAGGAAGGGCTGTACCAGATGACCTCTGACCTGCTTTCCAACTTTTTGATTTCATAACCCAGGCATTATCTCACTCAGCTGTAAGTGCCTGCAAGGTGCTGGGAATTTGGCGAAGAATGAACCTGTTCTGTACCCTCAAGGGCCACCTCATTTCCTACTAGGCCTCATTCCCAGCAGACTCCTGGAGTCCTTCCCTTGAACACAGATGTCCCACATTCCTGCTCTCTGCCCATTCATTCCCTGGAGTTCTGGGGCTGGGGGCTGGGATTGGACACCAGCCCTTTGTCTAAGGGTCAATCATGGCCTCTATGTGGCAGTGGAGGTCCTGATAGGGCAAGAGGGGGCCGGCACTCTCTTGCCTTATCAGGACTTTAGCCCCTGGATCTGTCCCTCCAGGTCACCCCTTCCTTGTCTGGCCTCCCTGTGCCTCTCTCCCAGAGACCAGGCCTTGACAGCTCCACAAAGCCGTTACACATGAGCTGGCTGTGCTGGCTCGTCTTTATTCCTGCAGCGCCCCGTTTCCCTGGCCACCCCTCCGTCTCCCACTGGAGATTTATTTCCTCGAGTTCCCACACATCAGCCTGGAGAGATGGGAAGAACCTCTGGGGATGGATGGGTTTGGAAACGCTGGAGCCACTGGGCCCAACTAGGAGCCTGAGACCTGGGCCCTGTTGTCCCTGGAGACTTCAGGTCCATCTACGCCCTCCACTCTGGTCCCACAGGGTCAGAACCCTGCCCAGTCCCCTCACCCATTTGTGTCCTTGGACTTCTGGGAAGCAGACAGCCCTCCTCTCCCCCCCTGCCACCCACTGTCCATGCCTGGGCATCCCCTGATCCCCTTTCCTGGGCACAGGCTGAATAGAGCCTTGTTCTCCACCGCCGGTGGCGCCACACAGCAAGGGCAGCCCCTAGGGGGCTGTGCTGCTTTTATCCCAAGATGCCAGGCTGTCAGGCTGGGGTGCAATGCAAGCCCCCTGCTCAATGGGCTTCTCGGAAGGCATTTGAGGGGGGCTGGGGTGCGGCGGGAAGCAGGCACTGTGCCCACCCCGAACATTGTGTCTGTGCCAAGGTGAGTCATTCACTGGGCATGAAGAGGAGGCCCTGGGGGGCGGCCAGCCCAATGCTGCCAGGTCTGCTTGCAGACAAGGCCTGGCTGTCTGCCTCCTCCCCAGCTCACAGAGCCAGCTCAGGCCCCCGAGCCTCTGTCAGAGCAGCGTCCCCTACTCCACACCAGGATATGTTCTTTTTTTTTTTTTTTTTTTTTTTGTCTTTTGAGACAGGGTCTCACTGTTGCCCAGGCTGGAGTGCAGTG
Task1_train_24790
The gene PLEKHM1 (pleckstrin homology and RUN domain containing M1) is located on Chromosome 17, where a mutation has occurred. What is the medical relevance of this mutation?
Pathogenic; Osteopetrosis, autosomal dominant 3
CCCAGATGCCAGTGGTTGGTGTCTGCCACTGAGCCATGCCTGCTGGGTAGAAAGGAAACCCAAACTCCCCGGTGGCACAGTCCCACCCGCTGGTGGGTGGCAGCCATGGTGAGAGTTGCCCCCGCAGCATTCACACCCACAGGCGAGGAACCCTTTCTTGCAAGCCCTGGAGTCCTGGCCCCCTCAGAGCCTGGCCTTCACAGGCTGAAGAGCAAAGTGTGAGCGCTGGGGCAGGCGGGGGAGAGGTCAAGCGAGGCTTGCAGGTGTTTTCTGCAGGAAGCTCTGTTCTGCCTAGCTTCTCCCATCCTCGCGGGGCCAACCGCAGACCAATTCCTTTCAGATGCTTGAAACAGGCTTCCCTCCAGTCTGTGCCAACAGGACAGCTCCCAAACCAAGGCTCAGCTTCTTGCTCTGGCCTTCTGCAGCAGGACAACCCCCTCACAGGTCACCTAAGGGTCCCATGGTGATGGGATGCCATCTGCCCCTGGATGGTGGGGGGAGTGGGAGGGGCTAACAATGGAACATGGGCAGGGGGATGTCACTCAACCTTGAATAAGACCCTAGAGGGATGCCCTCTAGGGTCCTGCCTATGAGCAAAGGCTCTGGGGCCTGACTGTCAGGGTCCCATTTCTGCCTCTGGCCAGGCATGGTTGCTGATATCTGTAATCCCAGCACTTTGGGAGGCTGAAGCAGGAGGAACACTTGAGCCTAGGAGTTCAAGACTAGCTTGAGCAACAGGGGGAGACCCCATCTCTACTAAAACAAACAAACAAACAAACAAAAAAGGAAAATTCTGCCTCTGCCACTTACTAGCTGTGTGAGCTCAGTAGCAGACACCAACCAGGTACTTACCAGCTCTGTGCTTCAGTTTCCTCCCCTATCAACAGAGATGATAATAGTAGCGCCTATCTCTACAGGGTTGTTATGAGACTTAAATGAGATAATCCAAATAAAGCAGCTGGCCCAGTGCCCAGCACAGAAGTATTAGATTTGATGATGAGGAAGACATAGCAGATGTACTGACTTGGAATAACATCCACAGTGTAGGAAAAAACCAAGTTGTGGAACAATATATCCAGCATTCAACACAGCAGCCAAGAGCCCCGTGTGTCCCCTTTAAATGCAAATGAATTTAAATAGAAAATTCAGTTGCTTAACCACACTAGCCACACTTTAAGCACCTGGTAGCACTACATGGCTCGCAGCTATGGCACTGGACACACAGATCTAGGACATTTTCATCATCACAGAAAGTTCTATTGGACAGCACTGAATAGCACGAGCCCATTTTTATAATTAAAAAAAAGGGTGTACACTTATAAAAGCAGCAGAAATATTTGGAAGGAAACCATGCCCCTGCTCTGAAAGAACAGGACGGTAGAGCAAGAAGAAAATGAAGCAGGCTGGGACTCCCTGAGCAGCGCAGTGAGTAGCCAGCCTGCCGCCCATCAGTGGGAGGTGGCAGGAGAGGGACGGGTGAGCAGGGCCCACTGCCTATGAGCAGGGCACTGGCCCCAGCCGGGGCTGGGGAGGAGCAGAAGCTGTAGGGCAAGCCTGATCTGTGGCCTCATCCCTAGGGGAAGGATGGGGGCATTTGCGGGGAGGCAGAAGGGTGGGGAGCCTAAATCAGGAACCAGCAGGAGGTGGAGTGAGGCTGGCAGGCTGGGGGTGGCAGCAGAGCAAATCGGCACCTGCGCAGAAGCAGCCTTGGGAGTCAAGGCCTTTCTCCATGGGGATAGCCACCAGGTACTGCAGCAGGAAGCCATTCTCCCGGGTGGCAAATTTCAGCACCTCCTGACAGTTTTCATCCAGGCTCCCGCCCAGGGTCACCGCCTCCTCGGCTGTCTCCAAGTAGGATGCCAGGACTTTGCGGACCAGATCCCTCCACAGGGCGGCTTCCTCGGCGTTTCCGGCCTGCAGCTTCAGGACAGCCTTGGCCGTGATGATTTTGAAGAAGGATGGGCCCCCAAGGCTGGTGTCTGGCAGGATGTCCCGGATGGTCTCCACGCCGTGGCTGTCACTCAGCATCTTCTCATTGTTCCTGATGCGGAAACATTTCAGAGCCTCCAAGGACAGAGAAAATATATAGGGCATCCAGGTCCTGTCCATGTACAAGTACAGCAGGGACTCCTTGATGGCATCTGGCTCTGGAACCTGGGCGGACGACCAGTCAAACTGTGTGCCCTGGAGGGCCGCGGGCTCCGAGAGCAGGTCTGAGGGAGAGAGGCAGCCCTGGGGCGCCTCGGGGGGTTCCTCAGGCTGGTCTGGGTACTGCACGTTCACCCACTCATCCTCCTGCTGAGGCCGGACCTTCTGCAGGGCCTCCCGCACCCGGTCCAGCCAGTCCTCAGCTTCGTCCTGGGAGGAGGCGCGCAGGGCCAGCTTCTTGCCAGAGAAGACCAGCTCAAAGCGCCCATCACTATGGGCTGGCCCCACAGACTCACAGCGAAGCAGCGAGCAGTTCTCCACACAGGTGTGCTCCTCGTTGCTCAGGTAGAGGCGGAACTCCAGCGGGGAGAGCTCGCAGAAGAGCTCCTTCCAGATGCCCATTGCCCCCCGCCGCTCCACGGTGCCCAGCTTCATGAGACCCCGGAATGGGTTGGACAGTCCTGGAGGCAGAGGCAAAAAGGGGCACATTAGTTGGCGGGCCTGTCTCTGTCCTGCCCAAGGCAGCCTCTGCTGCCTGATGCCCTGCAGTGCATGTGGCCAGTGACTGTCCCCAGAACACAGGCCAGCCACGGGGCACTATCACATGGGACCCTGAAAGCTGGATGGGAACATCCCCATTCTCACCGTCCACTGCTGCTCTTGCGTCCTGTATTTCACTGAGAAAATAAGAGCACCCAAAAGATCCCCTCCACACGCCCTGTTCCCTACACCCACGCCTTCCCTCCTGCTGCCAGGGATGAACCAAGTGTGCTTCTTTCTGCGTGAGGCCAAACCCTCCATTTGTGCAGGAGGTCTCTCCCTTGGCCAACTACTCAAGGACAAGGAGCAGTCCTCTCCTCTGTCACTGCTTTCTTCCTTCTCTATGGGGTGACTCCCATCGGCACACATGCACGCTGTCATTTCTCCCATCTTTAGAAACACCTCTCGTCTCCATGCACTTCCCTAATGACCACCATATTTCTCAGGCCCCTTTACAGAAAACCTGTTTGAAGAGGCATCAAAACTGTTCATCTTGGCCGGAAGCGGTGGCTCATGCCTGTAATCCCAGCACTTCGGGAGGCTGAGGTGGGTGGATCACTTGAGGTCAGGAGTTTGAGACCAGCTTGGTGAACACGGTGAAACCCCGTCTCTACTAAAAATACAAAAATTAGCCAGGTGTGGTGAGCACCTGTAATCCCAGCTACTAGGGAGGCTGAGGCAGGAGAATGGCTTGAACCGGGAAGGCAGGGGATTGCAGTGAGCTGAGGTCACTCCACTGCACTTCAGCCTGGGTGACAGAGGAGTGAGACTCCGTCTCAACAAAACAAAAAACCTCTTGGTCTCTAGTTTCCCTGCTCCCATTCCTTCTCGAACCTGCTCCAAGTAGGCTTCTCTCCCCCCATTCTACTGACACTGTTTCTGAGATGGTCAATGCCCTCCTCGTTGCCAAACCCCAAGGCCACTCCTCAGCCCTCGCCCCCACCCTTCTATCTCTCTGGCTCGGTCCTCCCTGTGGCCTCTCACGTTAGAGTGCCCAGATGTCAGTCCTGGGTCCTTGTCTCCTCTCTGTAGATGCCACTTTCTCACCACTCTACCTGCTCTCAGGCTTTAGCTCCCAATTTTTATCGCCAGCCTGGACCTTGTTCTTGAAATCCACATTCATATATCCACCTGTGCCATACATGTCCACTAGGATCTCAGCTGACATGTCCAGGATGAATTCCTGCTGCCAGCCTGCTTCCTCCTGAATGGTCCTCATCTCACCAAATAGCAAAATTCATCCTTCCAGATGCCTGGGCTAAAAATCTTGGTGTTACCCCAGGTTTTCTTTCTTTCGCAGCCTACATCAGCAAATCCCATTGGCTCTGCCTTCCACACATCCGGAATCCCCGCCTCTCCCCAGCTGCACCCCACCCACTGTCATCTCTGGCCTGGCTTGTGATGACAA
CCCAGATGCCAGTGGTTGGTGTCTGCCACTGAGCCATGCCTGCTGGGTAGAAAGGAAACCCAAACTCCCCGGTGGCACAGTCCCACCCGCTGGTGGGTGGCAGCCATGGTGAGAGTTGCCCCCGCAGCATTCACACCCACAGGCGAGGAACCCTTTCTTGCAAGCCCTGGAGTCCTGGCCCCCTCAGAGCCTGGCCTTCACAGGCTGAAGAGCAAAGTGTGAGCGCTGGGGCAGGCGGGGGAGAGGTCAAGCGAGGCTTGCAGGTGTTTTCTGCAGGAAGCTCTGTTCTGCCTAGCTTCTCCCATCCTCGCGGGGCCAACCGCAGACCAATTCCTTTCAGATGCTTGAAACAGGCTTCCCTCCAGTCTGTGCCAACAGGACAGCTCCCAAACCAAGGCTCAGCTTCTTGCTCTGGCCTTCTGCAGCAGGACAACCCCCTCACAGGTCACCTAAGGGTCCCATGGTGATGGGATGCCATCTGCCCCTGGATGGTGGGGGGAGTGGGAGGGGCTAACAATGGAACATGGGCAGGGGGATGTCACTCAACCTTGAATAAGACCCTAGAGGGATGCCCTCTAGGGTCCTGCCTATGAGCAAAGGCTCTGGGGCCTGACTGTCAGGGTCCCATTTCTGCCTCTGGCCAGGCATGGTTGCTGATATCTGTAATCCCAGCACTTTGGGAGGCTGAAGCAGGAGGAACACTTGAGCCTAGGAGTTCAAGACTAGCTTGAGCAACAGGGGGAGACCCCATCTCTACTAAAACAAACAAACAAACAAACAAAAAAGGAAAATTCTGCCTCTGCCACTTACTAGCTGTGTGAGCTCAGTAGCAGACACCAACCAGGTACTTACCAGCTCTGTGCTTCAGTTTCCTCCCCTATCAACAGAGATGATAATAGTAGCGCCTATCTCTACAGGGTTGTTATGAGACTTAAATGAGATAATCCAAATAAAGCAGCTGGCCCAGTGCCCAGCACAGAAGTATTAGATTTGATGATGAGGAAGACATAGCAGATGTACTGACTTGGAATAACATCCACAGTGTAGGAAAAAACCAAGTTGTGGAACAATATATCCAGCATTCAACACAGCAGCCAAGAGCCCCGTGTGTCCCCTTTAAATGCAAATGAATTTAAATAGAAAATTCAGTTGCTTAACCACACTAGCCACACTTTAAGCACCTGGTAGCACTACATGGCTCGCAGCTATGGCACTGGACACACAGATCTAGGACATTTTCATCATCACAGAAAGTTCTATTGGACAGCACTGAATAGCACGAGCCCATTTTTATAATTAAAAAAAAGGGTGTACACTTATAAAAGCAGCAGAAATATTTGGAAGGAAACCATGCCCCTGCTCTGAAAGAACAGGACGGTAGAGCAAGAAGAAAATGAAGCAGGCTGGGACTCCCTGAGCAGCGCAGTGAGTAGCCAGCCTGCCGCCCATCAGTGGGAGGTGGCAGGAGAGGGACGGGTGAGCAGGGCCCACTGCCTATGAGCAGGGCACTGGCCCCAGCCGGGGCTGGGGAGGAGCAGAAGCTGTAGGGCAAGCCTGATCTGTGGCCTCATCCCTAGGGGAAGGATGGGGGCATTTGCGGGGAGGCAGAAGGGTGGGGAGCCTAAATCAGGAACCAGCAGGAGGTGGAGTGAGGCTGGCAGGCTGGGGGTGGCAGCAGAGCAAATCGGCACCTGCGCAGAAGCAGCCTTGGGAGTCAAGGCCTTTCTCCATGGGGATAGCCACCAGGTACTGCAGCAGGAAGCCATTCTCCCGGGTGGCAAATTTCAGCACCTCCTGACAGTTTTCATCCAGGCTCCCGCCCAGGGTCACCGCCTCCTCGGCTGTCTCCAAGTAGGATGCCAGGACTTTGCGGACCAGATCCCTCCACAGGGCGGCTTCCTCGGCGTTTCCGGCCTGCAGCTTCAGGACAGCCTTGGCCGTGATGATTTTGAAGAAGGATGGGCCCCCAAGGCTGGTGTCTGGCAGGATGTCCCGGATGGTCTCCACGCCGTGGCTGTCACTCAGCATCTTCTCATTGTTCCTGATGCAGAAACATTTCAGAGCCTCCAAGGACAGAGAAAATATATAGGGCATCCAGGTCCTGTCCATGTACAAGTACAGCAGGGACTCCTTGATGGCATCTGGCTCTGGAACCTGGGCGGACGACCAGTCAAACTGTGTGCCCTGGAGGGCCGCGGGCTCCGAGAGCAGGTCTGAGGGAGAGAGGCAGCCCTGGGGCGCCTCGGGGGGTTCCTCAGGCTGGTCTGGGTACTGCACGTTCACCCACTCATCCTCCTGCTGAGGCCGGACCTTCTGCAGGGCCTCCCGCACCCGGTCCAGCCAGTCCTCAGCTTCGTCCTGGGAGGAGGCGCGCAGGGCCAGCTTCTTGCCAGAGAAGACCAGCTCAAAGCGCCCATCACTATGGGCTGGCCCCACAGACTCACAGCGAAGCAGCGAGCAGTTCTCCACACAGGTGTGCTCCTCGTTGCTCAGGTAGAGGCGGAACTCCAGCGGGGAGAGCTCGCAGAAGAGCTCCTTCCAGATGCCCATTGCCCCCCGCCGCTCCACGGTGCCCAGCTTCATGAGACCCCGGAATGGGTTGGACAGTCCTGGAGGCAGAGGCAAAAAGGGGCACATTAGTTGGCGGGCCTGTCTCTGTCCTGCCCAAGGCAGCCTCTGCTGCCTGATGCCCTGCAGTGCATGTGGCCAGTGACTGTCCCCAGAACACAGGCCAGCCACGGGGCACTATCACATGGGACCCTGAAAGCTGGATGGGAACATCCCCATTCTCACCGTCCACTGCTGCTCTTGCGTCCTGTATTTCACTGAGAAAATAAGAGCACCCAAAAGATCCCCTCCACACGCCCTGTTCCCTACACCCACGCCTTCCCTCCTGCTGCCAGGGATGAACCAAGTGTGCTTCTTTCTGCGTGAGGCCAAACCCTCCATTTGTGCAGGAGGTCTCTCCCTTGGCCAACTACTCAAGGACAAGGAGCAGTCCTCTCCTCTGTCACTGCTTTCTTCCTTCTCTATGGGGTGACTCCCATCGGCACACATGCACGCTGTCATTTCTCCCATCTTTAGAAACACCTCTCGTCTCCATGCACTTCCCTAATGACCACCATATTTCTCAGGCCCCTTTACAGAAAACCTGTTTGAAGAGGCATCAAAACTGTTCATCTTGGCCGGAAGCGGTGGCTCATGCCTGTAATCCCAGCACTTCGGGAGGCTGAGGTGGGTGGATCACTTGAGGTCAGGAGTTTGAGACCAGCTTGGTGAACACGGTGAAACCCCGTCTCTACTAAAAATACAAAAATTAGCCAGGTGTGGTGAGCACCTGTAATCCCAGCTACTAGGGAGGCTGAGGCAGGAGAATGGCTTGAACCGGGAAGGCAGGGGATTGCAGTGAGCTGAGGTCACTCCACTGCACTTCAGCCTGGGTGACAGAGGAGTGAGACTCCGTCTCAACAAAACAAAAAACCTCTTGGTCTCTAGTTTCCCTGCTCCCATTCCTTCTCGAACCTGCTCCAAGTAGGCTTCTCTCCCCCCATTCTACTGACACTGTTTCTGAGATGGTCAATGCCCTCCTCGTTGCCAAACCCCAAGGCCACTCCTCAGCCCTCGCCCCCACCCTTCTATCTCTCTGGCTCGGTCCTCCCTGTGGCCTCTCACGTTAGAGTGCCCAGATGTCAGTCCTGGGTCCTTGTCTCCTCTCTGTAGATGCCACTTTCTCACCACTCTACCTGCTCTCAGGCTTTAGCTCCCAATTTTTATCGCCAGCCTGGACCTTGTTCTTGAAATCCACATTCATATATCCACCTGTGCCATACATGTCCACTAGGATCTCAGCTGACATGTCCAGGATGAATTCCTGCTGCCAGCCTGCTTCCTCCTGAATGGTCCTCATCTCACCAAATAGCAAAATTCATCCTTCCAGATGCCTGGGCTAAAAATCTTGGTGTTACCCCAGGTTTTCTTTCTTTCGCAGCCTACATCAGCAAATCCCATTGGCTCTGCCTTCCACACATCCGGAATCCCCGCCTCTCCCCAGCTGCACCCCACCCACTGTCATCTCTGGCCTGGCTTGTGATGACAA
Task1_train_24791
A variant was discovered in gene MAPT (microtubule associated protein tau), Chromosome 17. Please indicate if this mutation results in a known disease or if it's non-harmful.
Pathogenic; Supranuclear palsy, progressive, 1
GAGAACAGCAGAGCCGTTTTAGGATGGGACAGGGCAGCCAGGAGGATTGGGCTCACTCCCTACTGAGTGCCTCACTCCCGTACAGCCCCCATAGAGGAAGAGGGGTTCAAATTTATTCCTCAGCCAGATGGCATGTGCCGCCTGTCCTGGAATTTCACATCACTTATGATGGACCAAAATTCCAAAAGCTGAATCCATGATTGTCAAAGTCTGGTATGGCAGGATGTCAACAGTAATCGTTTCTGGGCAGAGGGATGATTTTCTCTTCCCATCTTGCTTTGTATAAATACATTTTCTATAATAAGGTTGTATTACTTTTCTCATCAAGAAATAGCAAAGTACTGTTTTACTCAAAATATGAATAGAGCCAGGCATGGTGGCAGCTTATGCCTGTAATCCCAACACTTTGAGAGGCGGATATGGGAGGATCACTTTAGCCCAGGAGTTTGAGACCAGCCTGGGCAACATAGTGAGACCCCCGTCCCCACTCCCCCAAAGAAAACCCACAAAGCATTTATCCTGGATTATTCACAGGGGCCAAAAAAAAAAAAAAAAATTCAGGCCTCCTATAGCCATGAGCTACGAATATGAAAATATGCAAATGTGTAAGAAAAGCCAGCACATCCGATTTTTACTTTTACTTTCACACCTCTGTCCACCATGTTCCAAGAGAAGAAACTTGGTCATTGAAAGGAATAGATCAAATCCAAAGAACAAAACCACTGTGCTCATTAAACTTCTTAGTGTTCACAAAGCTTTAGCTGCAGGTTGAATGGGGCAACCCGAATTGGCTGGCTCACCTGGGCTGCAGGGAGCAGAGATCGCGACACTGCACTCCAGCCTGGGCAACAAAGCGAGACTCTATCTCAAAAAAAAAAAAGTTCATAAATTCAAAGTTATGAATTATTTTTAAAATAATAATAATTTACAATAAAGATGAGGACAAAGTGTGAGTAAATGGTGGTTTCTATCCAGCTCTGTTGAGCTGAAGTGGCATCTCCCTGCTGGGGCTTTTGGGGAAGAAGGGTGTGTGTTGCTCTTCAGATCCCAAGCCTCATGCCCCTACTGGGCCCTGTGGGGTGCTTCTCAGCCCACCAGGAGAGCCACCGTTGGAACACACACGTGGGGGACCTGGTGGGTGCCGGTGTGGTGAATGGGGGCCACAGCCTGACTCCAGGAAGCCAGCAAACTCGGAGCTGGAGGAGTCAGGACACCCCCGATGAGTCAAGAGTTGGTTTTGCTGCCAGTTGACATCTGATTGAACCATCTCTTCACTTCTCCGTGCCTCACTTTCCTTACCAGACAGGCTCTGCTGATGCTGTCCCTCTCCTGTTCAGTCGTGCCCTCACCGTTAAAGAGAAAGAGCAAACTGCTGGGCAGCAGCATTGATTTTTTTAATGAAGTGGAAAGAGAGCTGGGAATAACAAGTCGGGCCCACCTCACCTGCCTCACCTGGTGGGTTTATTTGTTTTGTTTTTTTTTTTTTGTTTTGAGACAGAGTTTCACCCTGTCACCCAGGCTGGAGTGCAGTGGTGTAATCTCAGCTCACTGCAACCTCCACCTGCCAGGTTCAATTGATTCTCCTGCCTCAGCCTCCCCAGTAGCTGGGATTACAGGCACCTGCCACATGCCTGGCTAATTATTGTATTTTTAGTAGAGATGGGGTTTTACCATGTTGGCCAGGCTGGTCTCGATCCCCTGACCTCAGGTGATCCACCCACCTCGGCCTCCCAAAGTGCTGAGATCACAGGCGTGAGCCACCATGCCTGGCCGTCACCTGGTGGTGTTGAATATGAACTGCTGCGGTGTTGGTAAATTAAGCAAGCAGATAGATGTAAATAACGCTTGGGCAGGAATATGGAGCACGGGATGAGGATGGGCGGCCAACTGTTAGAGAGGGTAGCAGGGAGGCTGAGATCTGCCTGCCATGAACTGGGAGGAGAGGCTCCTCTCTCTCTTCACCCCCACTCTGCCCCCCAACACTCCTCAGAACTTATCCTCTCCTCTTCTTTCCCCAGGTGAACTTTGAACCAGGATGGCTGAGCCCCGCCAGGAGTTCGAAGTGATGGAAGATCACGCTGGGACGTACGGGTTGGGGGACAGGAAAGATCAGGGGGGCTACACCATGCACCAAGACCAAGAGGGTGACACGGACGCTGGCCTGAAAGGTTAGTGGACAGCCATGCACAGCAGGCCCAGATCACTGCAAGCCAAGGGGTGGCGGGAACAGTTTGCATCCAGAATTGCAAAGAAATTTTAAATACATTATTGTCTTAGACTGTCAGTAAAGTAAAGCCTCATTAATTTGAGTGGGCCAAGATAACTCAAGCAGTGAGATAATGGCCAGACACGGTGGCTCACGCCTGTAATCCCAGCACTTTGGAAGGCCCAGGCAGGAGGATCCCTTGAGGCCAGGAATTTGAGACCGGCCTGGGCAACATAGCAAGACCCCGTCTCTAAAATAATTTAAAAATTAGCCAGGTGTTGTGGTGCATGTCTATAGTCCTAGCTACTCAGGATGCTGAGGCAGAAGGATCACTTGAGCCCAGGAGTTCAAGGTTGCAGTAAGCTGTGATTATAAAACTGCACTCCAGCCTGAGCAACAGAGCAAGACCCTGTCAAAAAAAAAAGAAAAGAAAAAAGAAAGAAAGAAATTTACCTTGAGTTACCCACATGAGTGAATGTAGGGACAGAGATTTTAGGGCCTTAACAATCTCTCAAATACAGGGTACTTTTTGAGGCATTAGCCACACCTGTTAGCTTATAAATCAGTGGTATTGATTAGCATGTAAAATATGTGACTTTAAACATTGCTTTTTATCTCTTACTTAGATCAGGCCTGAGTGGCCTCTCTTTAGCAAGAGTTGGTTAGCCCTGGGATTCTTACTGTAGCCACATTAATAAACAACATCGACTTCTAAACATTCTATAATACCATCTTTTGGCCAAATTGACTTCGCCTCTTCCTCTCTCTTTCCAAATGAAATGTGTTTCATTTCACTGTCAGACCACATGGTTGGGGACCCCACAGAGCACACAGCCCTCCCTCTGCCTTCCCATGCTGGCCCTTCACCCACTGCTGGAGTGCCAGGTTGGTCCAAGGGTTGGACCAAGTTGTCTGAGGTTGTCTCAAGGTTGGTCGAGGCTGTCTCCGCGCTGGGTTGTGCTACAAGGAGCCCTTCTTTCCATGGGTGTGGCTGGCAGTGAGTGCTCACAGCAACAGCCCACAGTGCAGCCCGAGGGCAGGATGGACTCAGTCCCTGCCTCCATACCCATTTCTAAGGAGGCAAAATGGCAAACACTCTACTTTTCTCTTTTAATGCTAAAAATAAGAAAACACCTTGCAGCCCAGGGTATGGGTAGTGCATGGAAGCCGTGGAGTTGTGAGGTGGGAAGTGACCTCTGCTGGATATGTCTATTCAGGAAGATTGCTGGAGTGGGTGGGGTCTCTGGGAGGTCCCCTGAGTGTGGGAAGCTGGGACCACCAGCTTTCTCGCACAGGGAGTGGCCATCCCAGCTTGGAGAGGTTCCAGGACTGGTTGGGAGGCACGTTTCAGATTTCTATCTGTTGAATCAGCGAAGATATTGGATTATGAGGAATTTGGGAATTAGGAAAGTGGGTGCAGGTGGGTTGGGGGTAGGTGAAGGAAGACATGGGCGTATTGGGGGAGCAGGGGCTGCTCAGAGGTGTTCCAGAAGCTCTGGGTGAGGAGGTGAGAGGGACCGGGGAATGCAGCTCGGCCCAGCCTCCCTGCCTGAGGTCAGCCATCACGTGGTGATGGCAAGATGGAAATGTGCTTTCTGACTGCTCCAGCCAGTGCTGCCAGATTCAGCTCCCCAGGGAGGGCACCTGAGAGGCTCCAAGCCAGGAGATCTGTTTTCTCCTTTGTTTTGTTTTTTTTTGTTTTGTTTTGTTTTATTATACTTTAAGTTCTAGGGTACATGTGCACAACGTGCAGGTTTGTTACATATGTATACATGTGCCATGTTGGTGTGCTGCACCCATCAACTTGTCATTTACATTAGGTATATCTCCTAATGCTATCCCTCCCCCCTCCCCCCACCCCCTGTTTTCTCCTTTGAATCCTTCTTAGAG
GAGAACAGCAGAGCCGTTTTAGGATGGGACAGGGCAGCCAGGAGGATTGGGCTCACTCCCTACTGAGTGCCTCACTCCCGTACAGCCCCCATAGAGGAAGAGGGGTTCAAATTTATTCCTCAGCCAGATGGCATGTGCCGCCTGTCCTGGAATTTCACATCACTTATGATGGACCAAAATTCCAAAAGCTGAATCCATGATTGTCAAAGTCTGGTATGGCAGGATGTCAACAGTAATCGTTTCTGGGCAGAGGGATGATTTTCTCTTCCCATCTTGCTTTGTATAAATACATTTTCTATAATAAGGTTGTATTACTTTTCTCATCAAGAAATAGCAAAGTACTGTTTTACTCAAAATATGAATAGAGCCAGGCATGGTGGCAGCTTATGCCTGTAATCCCAACACTTTGAGAGGCGGATATGGGAGGATCACTTTAGCCCAGGAGTTTGAGACCAGCCTGGGCAACATAGTGAGACCCCCGTCCCCACTCCCCCAAAGAAAACCCACAAAGCATTTATCCTGGATTATTCACAGGGGCCAAAAAAAAAAAAAAAAATTCAGGCCTCCTATAGCCATGAGCTACGAATATGAAAATATGCAAATGTGTAAGAAAAGCCAGCACATCCGATTTTTACTTTTACTTTCACACCTCTGTCCACCATGTTCCAAGAGAAGAAACTTGGTCATTGAAAGGAATAGATCAAATCCAAAGAACAAAACCACTGTGCTCATTAAACTTCTTAGTGTTCACAAAGCTTTAGCTGCAGGTTGAATGGGGCAACCCGAATTGGCTGGCTCACCTGGGCTGCAGGGAGCAGAGATCGCGACACTGCACTCCAGCCTGGGCAACAAAGCGAGACTCTATCTCAAAAAAAAAAAAGTTCATAAATTCAAAGTTATGAATTATTTTTAAAATAATAATAATTTACAATAAAGATGAGGACAAAGTGTGAGTAAATGGTGGTTTCTATCCAGCTCTGTTGAGCTGAAGTGGCATCTCCCTGCTGGGGCTTTTGGGGAAGAAGGGTGTGTGTTGCTCTTCAGATCCCAAGCCTCATGCCCCTACTGGGCCCTGTGGGGTGCTTCTCAGCCCACCAGGAGAGCCACCGTTGGAACACACACGTGGGGGACCTGGTGGGTGCCGGTGTGGTGAATGGGGGCCACAGCCTGACTCCAGGAAGCCAGCAAACTCGGAGCTGGAGGAGTCAGGACACCCCCGATGAGTCAAGAGTTGGTTTTGCTGCCAGTTGACATCTGATTGAACCATCTCTTCACTTCTCCGTGCCTCACTTTCCTTACCAGACAGGCTCTGCTGATGCTGTCCCTCTCCTGTTCAGTCGTGCCCTCACCGTTAAAGAGAAAGAGCAAACTGCTGGGCAGCAGCATTGATTTTTTTAATGAAGTGGAAAGAGAGCTGGGAATAACAAGTCGGGCCCACCTCACCTGCCTCACCTGGTGGGTTTATTTGTTTTGTTTTTTTTTTTTTGTTTTGAGACAGAGTTTCACCCTGTCACCCAGGCTGGAGTGCAGTGGTGTAATCTCAGCTCACTGCAACCTCCACCTGCCAGGTTCAATTGATTCTCCTGCCTCAGCCTCCCCAGTAGCTGGGATTACAGGCACCTGCCACATGCCTGGCTAATTATTGTATTTTTAGTAGAGATGGGGTTTTACCATGTTGGCCAGGCTGGTCTCGATCCCCTGACCTCAGGTGATCCACCCACCTCGGCCTCCCAAAGTGCTGAGATCACAGGCGTGAGCCACCATGCCTGGCCGTCACCTGGTGGTGTTGAATATGAACTGCTGCGGTGTTGGTAAATTAAGCAAGCAGATAGATGTAAATAACGCTTGGGCAGGAATATGGAGCACGGGATGAGGATGGGCGGCCAACTGTTAGAGAGGGTAGCAGGGAGGCTGAGATCTGCCTGCCATGAACTGGGAGGAGAGGCTCCTCTCTCTCTTCACCCCCACTCTGCCCCCCAACACTCCTCAGAACTTATCCTCTCCTCTTCTTTCCCCAGGTGAACTTTGAACCAGGATGGCTGAGCCCCTCCAGGAGTTCGAAGTGATGGAAGATCACGCTGGGACGTACGGGTTGGGGGACAGGAAAGATCAGGGGGGCTACACCATGCACCAAGACCAAGAGGGTGACACGGACGCTGGCCTGAAAGGTTAGTGGACAGCCATGCACAGCAGGCCCAGATCACTGCAAGCCAAGGGGTGGCGGGAACAGTTTGCATCCAGAATTGCAAAGAAATTTTAAATACATTATTGTCTTAGACTGTCAGTAAAGTAAAGCCTCATTAATTTGAGTGGGCCAAGATAACTCAAGCAGTGAGATAATGGCCAGACACGGTGGCTCACGCCTGTAATCCCAGCACTTTGGAAGGCCCAGGCAGGAGGATCCCTTGAGGCCAGGAATTTGAGACCGGCCTGGGCAACATAGCAAGACCCCGTCTCTAAAATAATTTAAAAATTAGCCAGGTGTTGTGGTGCATGTCTATAGTCCTAGCTACTCAGGATGCTGAGGCAGAAGGATCACTTGAGCCCAGGAGTTCAAGGTTGCAGTAAGCTGTGATTATAAAACTGCACTCCAGCCTGAGCAACAGAGCAAGACCCTGTCAAAAAAAAAAGAAAAGAAAAAAGAAAGAAAGAAATTTACCTTGAGTTACCCACATGAGTGAATGTAGGGACAGAGATTTTAGGGCCTTAACAATCTCTCAAATACAGGGTACTTTTTGAGGCATTAGCCACACCTGTTAGCTTATAAATCAGTGGTATTGATTAGCATGTAAAATATGTGACTTTAAACATTGCTTTTTATCTCTTACTTAGATCAGGCCTGAGTGGCCTCTCTTTAGCAAGAGTTGGTTAGCCCTGGGATTCTTACTGTAGCCACATTAATAAACAACATCGACTTCTAAACATTCTATAATACCATCTTTTGGCCAAATTGACTTCGCCTCTTCCTCTCTCTTTCCAAATGAAATGTGTTTCATTTCACTGTCAGACCACATGGTTGGGGACCCCACAGAGCACACAGCCCTCCCTCTGCCTTCCCATGCTGGCCCTTCACCCACTGCTGGAGTGCCAGGTTGGTCCAAGGGTTGGACCAAGTTGTCTGAGGTTGTCTCAAGGTTGGTCGAGGCTGTCTCCGCGCTGGGTTGTGCTACAAGGAGCCCTTCTTTCCATGGGTGTGGCTGGCAGTGAGTGCTCACAGCAACAGCCCACAGTGCAGCCCGAGGGCAGGATGGACTCAGTCCCTGCCTCCATACCCATTTCTAAGGAGGCAAAATGGCAAACACTCTACTTTTCTCTTTTAATGCTAAAAATAAGAAAACACCTTGCAGCCCAGGGTATGGGTAGTGCATGGAAGCCGTGGAGTTGTGAGGTGGGAAGTGACCTCTGCTGGATATGTCTATTCAGGAAGATTGCTGGAGTGGGTGGGGTCTCTGGGAGGTCCCCTGAGTGTGGGAAGCTGGGACCACCAGCTTTCTCGCACAGGGAGTGGCCATCCCAGCTTGGAGAGGTTCCAGGACTGGTTGGGAGGCACGTTTCAGATTTCTATCTGTTGAATCAGCGAAGATATTGGATTATGAGGAATTTGGGAATTAGGAAAGTGGGTGCAGGTGGGTTGGGGGTAGGTGAAGGAAGACATGGGCGTATTGGGGGAGCAGGGGCTGCTCAGAGGTGTTCCAGAAGCTCTGGGTGAGGAGGTGAGAGGGACCGGGGAATGCAGCTCGGCCCAGCCTCCCTGCCTGAGGTCAGCCATCACGTGGTGATGGCAAGATGGAAATGTGCTTTCTGACTGCTCCAGCCAGTGCTGCCAGATTCAGCTCCCCAGGGAGGGCACCTGAGAGGCTCCAAGCCAGGAGATCTGTTTTCTCCTTTGTTTTGTTTTTTTTTGTTTTGTTTTGTTTTATTATACTTTAAGTTCTAGGGTACATGTGCACAACGTGCAGGTTTGTTACATATGTATACATGTGCCATGTTGGTGTGCTGCACCCATCAACTTGTCATTTACATTAGGTATATCTCCTAATGCTATCCCTCCCCCCTCCCCCCACCCCCTGTTTTCTCCTTTGAATCCTTCTTAGAG
Task1_train_24792
A genetic alteration is present in MAPT (microtubule associated protein tau) on Chromosome 17. Is this variant benign or disease-causing, and if the latter, which condition is involved?
Pathogenic; Pick disease
TATAATCCCGGCACTTTGGGAGGTTGAGGTGGGAGAATCGCTTGAGGCCAGAAGTTCAAGACCAGCCTGAGCAACATAGTCAGACCCCGTCTCTATAAAAAACATTATTTTTAAAAAAGACATGGAAGTCAAATTCTAAAAACTGGTGCTGGCTGGGTGCGGTGGCTCATGCCTATAATCCCAGCACTTTGGGAGGCCGAGGCGGGTGGATCACCTGAGGTCAGGAGTTCAAGACCAGCCTGGCCAACATGGTAAAACCTCTACTAAAGAAATCTTTACTGAAAATACAAAAATCCAGTCTCTACTAAAATAAGTCTCTACTAAAAATACAAAAATTAGCCAGGCGTGGTGCTGCACACCTGTAATATCAGCTACTCGGGAGGCTGAGGCAGGAGACTCGCTTGATCCCATGCAGCGGAGGTTGCAGTGAGCCGAGATCACGCCATTGCACTCCAGCCTGGGCATCAGAATAAGACTCCGTCTCAAAAAAAAAACCACAAAAAAACAAAACAACAACAAAAGAAAACTAGTGCTTATTCGTCACTGGCCAAGCTGCCCATTGGCTACATGGGTGCTTCAAAGAGCTGCCCTTCTCCAGGTCTGGCCAGCAGGTATGTGTTACAGCAAATGCCTGGGGCAGCGGCAGGGGCATTGCTGCGGGAAGCTTCTGGACTTGCAGGAAAGCTAAGTTCTCAGACTGCAGGGGAGCTAAGCACACCTCGGCACAGGGTGAGGCCTGCGGTTCTCAGACTTCAGTCTTTGTGGAGCTTGAGAAAAATGAGGCTTTGCAGGTCCCACCCCTAGAGATTCTGCTCTATCCACTCTTGAAGGGGATCGAGAAATTTGCATTTTGCAACTCCCACTTTCCTCCTTGAAAGCTCCGGAGATTCTGACGCAGGGTTCCGTGGGCCACACTTTGGAAAATACAGACCCATGAGATAGAATACCAGACTGTTGAAGTGTAACGGGGGCCTGGGAAGTGCAGTAACAGAAGCAAGTTTGAGGGTAAAGGACACCCAGAGGAGGGAGGGACAGCATCTGCATGGAGAGGAGAAGAGACCCCCCAGCAGCTTCCAGGGTGTTGGAAGGGTGCGCTAGTAACTGCTATGCATGGCAGGTGGGGAACTGTACGTCAGGGCACAGCAGCATGAAGCGGTATGGCTCGTGTGGACAGCTAGGGACAGGCAGGCGTGGAGCAGGCATCCTGTTCTGAAGGCCAAATCCCACAGAGGAGCCAGGGTGCTGGCAGGAGCCCTGAACTAGCCGAACAGCTGAACAGCTGAACATTCACCCTGTGGGGAAAGGGTCAGAAGCGTCCAGGCTTGAGGGCACAGCTGGGTCTCGTCACTGCATCACCCTTATTTAGGATAAAGGCCCTGAAGAATTGTATTAGAGGTTGGCAAAGCATATCTACCACCTCCTGGAGCCACGCTGGCCGCAGGGATTATAATTATTTCCATTTTCAAATTAAGGCCTCTGAGCTCAGAGAGGGGAAGTTACTTGTCTGAGGCCACACAGCTTGTTGGAGCCCATCTCTTGACCCAAAGACTGTGGAGCCGAGTTGGCCACCTCTCTGGGAGCGGGTATTGGATGGTGGTTGATGGTTTTCCATTGCTTTCCTGGGAAAGGGGTGTCTCTGTCCCTAAGCAAAAAGGCAGGGAGGAAGAGATGCTTCCCCAGGGCAGCCGTCTGCTGTAGCTGCGCTTCCAACCTGGCTTCCACCTGCCTAACCCAGTGGTGAGCCTGGGAATGGACCCACGGGACAGGCAGCCCCCAGGGCCTTTTCTGACCCCACCCACTCGAGTCCTGGCTTCACTCCCTTCCTTCCTTCCCAGGTGAACCTCCAAAATCAGGGGATCGCAGCGGCTACAGCAGCCCCGGCTCCCCAGGCACTCCCGGCAGCCGCTCCCGCACCCCGTCCCTTCCAACCCCACCCACCCGGGAGCCCAAGAAGGTGGCAGTGGTCCGTACTCCACCCAAGTCGCCGTCTTCCGCCAAGAGCCGCCTGCAGACAGCCCCCGTGCCCATGCCAGACCTGAAGAATGTCAAGTCCAAGATCGGCTCCACTGAGAACCTGAAGCACCAGCCGGGAGGCGGGAAGGTGAGAGTGGCTGGCTGCGCGTGGAGGTGTGGGGGGCTGCGCCTGGAGGGGTAGGGCTGTGCCTGGAAGGGTAGGGCTGCGCCTGGAGGTGCGCGGTTGAGCGTGGAGTCGTGGGACTGTGCATGGAGGTGTGGGGCTCCCCGCACCTGAGCACCCCCGCATAACACCCCAGTCCCCTCTGGACCCTCTTCAAGGAAGTTCAGTTCTTTATTGGGCTCTCCACTACACTGTGAGTGCCCTCCTCAGGCGAGAGAACGTTCTGGCTCTTCTCTTGCCCCTTCAGCCCCTGTTAATCGGACAGAGATGGCAGGGCTGTGTCTCCACGGCCGGAGGCTCTCATAGTCAGGGCACCCACAGCGGTTCCCCACCTGCCTTCTGGGCAGAATACACTGCCACCCATAGGTCAGCATCTCCACTCGTGGGCCATCTGCTTAGGTTGGGTTCCTCTGGATTCTGGGGAGATTGGGGGTTCTGTTTTGATCAGCTGATTCTTCTGGGAGCAAGTGGGTGCTCGCGAGCTCTCCAGCTTCCTAAAGGTGGAGAAGCACAGACTTCGGGGGCCTGGCCTGGATCCCTTTCCCCATTCCTGTCCCTGTGCCCCTCGTCTGGGTGCGTTAGGGCTGACATACAAAGCACCACAGTGAAAGAACAGCAGTATGCCTCCTCACTAGCCAGGTGTGGGCGGGTGGGTTTCTTCCAAGGCCTCTCTGTGGCCGTGGGTAGCCACCTCTGTCCTGCACCGCTGCAGTCTTCCCTCTGTGTGTGCTCCTGGTAGCTCTGCGCATGCTCATCTTCTTATAAGAACACCATGGCAGCTGGGCGTAGTGGCTCACGCCTATAATCCCAGCACTTTGGGAGGCTGAGGCAGGCAGATCACGAGGTCAGGAGTTCGAGACCAACCTGACCAACAGGGTGAAACCTCGTCTCTACTAAAAATACAAAAATACCTGGGCGTGGTGGTGGTGCGCGCCTATAATCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATCGCTTGAACCCAGGAGGCAGAGGTTGCAGTGAGCCGAGATAGTGCCACTGCACTCCAGTTTGAGCAACAGAGCGAGACTCTGTCTCAAAACAAAATAAAACAAACCAAAAAAACCCACCATGGCTTAGGGCCCAGCCTGATGACCTCATTTTTCACTTAGTCACCTCTCTAAAGGCCCTGTCTCCAAATAGAGTCACATTCTAAGGTACGGGGGTGTTGGGGAGGGGGGTTAGGGCTTCAACATGTGAATTTGCGGGGACCACAATTCAGCCCAGGACCCCGCTCCCGCCACCCAGCACTGGGGAGCTGGGGAAGGGTGAAGAGGAGGCTGGGGGTGAGAAGGACCACAGCTCACTCTGAGGCTGCAGATGTGCTGGGCCTTCTGGGCACTGGGCCTCGGGGAGCTAGGGGGCTTTCTGGAACCCTGGGCCTGCGTGTCAGCTTGCCTCCCCCACGCAGGCGCTCTCCACACCATTGAAGTTCTTATCACTTGGGTCTGAGCCTGGGGCATTTGGACGGAGGGTGGCCACCAGTGCACATGGGCACCTTGCCTCAAACCCTGCCACCTCCCCCCACCCAGGATCCCCCCTGCCCCCGAACAAGCTTGTGAGTGCAGTGTCACATCCCATCGGGATGGAAATGGACGGTCGGGTTAAAAGGGACGCATGTGTAGACCCTGCCTCTGTGCATCAGGCCTCTTTTGAGAGTCCCTGCGTGCCAGGCGGTGCACAGAGGTGGAGAAGACTCGGCTGTGCCCCAGAGCACCTCCTCTCATCGAGGAAAGGACAGACAGTGGCTCCCCTGTGGCTGTGGGGACAAGGGCAGAGCTCCCTGGAACACAGGAGGGAGGGAAGGAAGAGAACATCTCAGAATCTCCCTCCTGATGGCAAACGATCCGGGTTAAATTAAGGTCCGGCCTTTTCCTGCTCAGGCATGTGGAGCTTGTAGTGGAAGAGGCTCTCTGGACCCTCATCCACCACAGTGGC
TATAATCCCGGCACTTTGGGAGGTTGAGGTGGGAGAATCGCTTGAGGCCAGAAGTTCAAGACCAGCCTGAGCAACATAGTCAGACCCCGTCTCTATAAAAAACATTATTTTTAAAAAAGACATGGAAGTCAAATTCTAAAAACTGGTGCTGGCTGGGTGCGGTGGCTCATGCCTATAATCCCAGCACTTTGGGAGGCCGAGGCGGGTGGATCACCTGAGGTCAGGAGTTCAAGACCAGCCTGGCCAACATGGTAAAACCTCTACTAAAGAAATCTTTACTGAAAATACAAAAATCCAGTCTCTACTAAAATAAGTCTCTACTAAAAATACAAAAATTAGCCAGGCGTGGTGCTGCACACCTGTAATATCAGCTACTCGGGAGGCTGAGGCAGGAGACTCGCTTGATCCCATGCAGCGGAGGTTGCAGTGAGCCGAGATCACGCCATTGCACTCCAGCCTGGGCATCAGAATAAGACTCCGTCTCAAAAAAAAAACCACAAAAAAACAAAACAACAACAAAAGAAAACTAGTGCTTATTCGTCACTGGCCAAGCTGCCCATTGGCTACATGGGTGCTTCAAAGAGCTGCCCTTCTCCAGGTCTGGCCAGCAGGTATGTGTTACAGCAAATGCCTGGGGCAGCGGCAGGGGCATTGCTGCGGGAAGCTTCTGGACTTGCAGGAAAGCTAAGTTCTCAGACTGCAGGGGAGCTAAGCACACCTCGGCACAGGGTGAGGCCTGCGGTTCTCAGACTTCAGTCTTTGTGGAGCTTGAGAAAAATGAGGCTTTGCAGGTCCCACCCCTAGAGATTCTGCTCTATCCACTCTTGAAGGGGATCGAGAAATTTGCATTTTGCAACTCCCACTTTCCTCCTTGAAAGCTCCGGAGATTCTGACGCAGGGTTCCGTGGGCCACACTTTGGAAAATACAGACCCATGAGATAGAATACCAGACTGTTGAAGTGTAACGGGGGCCTGGGAAGTGCAGTAACAGAAGCAAGTTTGAGGGTAAAGGACACCCAGAGGAGGGAGGGACAGCATCTGCATGGAGAGGAGAAGAGACCCCCCAGCAGCTTCCAGGGTGTTGGAAGGGTGCGCTAGTAACTGCTATGCATGGCAGGTGGGGAACTGTACGTCAGGGCACAGCAGCATGAAGCGGTATGGCTCGTGTGGACAGCTAGGGACAGGCAGGCGTGGAGCAGGCATCCTGTTCTGAAGGCCAAATCCCACAGAGGAGCCAGGGTGCTGGCAGGAGCCCTGAACTAGCCGAACAGCTGAACAGCTGAACATTCACCCTGTGGGGAAAGGGTCAGAAGCGTCCAGGCTTGAGGGCACAGCTGGGTCTCGTCACTGCATCACCCTTATTTAGGATAAAGGCCCTGAAGAATTGTATTAGAGGTTGGCAAAGCATATCTACCACCTCCTGGAGCCACGCTGGCCGCAGGGATTATAATTATTTCCATTTTCAAATTAAGGCCTCTGAGCTCAGAGAGGGGAAGTTACTTGTCTGAGGCCACACAGCTTGTTGGAGCCCATCTCTTGACCCAAAGACTGTGGAGCCGAGTTGGCCACCTCTCTGGGAGCGGGTATTGGATGGTGGTTGATGGTTTTCCATTGCTTTCCTGGGAAAGGGGTGTCTCTGTCCCTAAGCAAAAAGGCAGGGAGGAAGAGATGCTTCCCCAGGGCAGCCGTCTGCTGTAGCTGCGCTTCCAACCTGGCTTCCACCTGCCTAACCCAGTGGTGAGCCTGGGAATGGACCCACGGGACAGGCAGCCCCCAGGGCCTTTTCTGACCCCACCCACTCGAGTCCTGGCTTCACTCCCTTCCTTCCTTCCCAGGTGAACCTCCAAAATCAGGGGATCGCAGCGGCTACAGCAGCCCCGGCTCCCCAGGCACTCCCGGCAGCCGCTCCCGCACCCCGTCCCTTCCAACCCCACCCACCCGGGAGCCCAAGAAGGTGGCAGTGGTCCGTACTCCACCCAAGTCGCCGTCTTCCGCCAAGAGCCGCCTGCAGACAGCCCCCGTGCCCATGCCAGACCTGAAGAATGTCACGTCCAAGATCGGCTCCACTGAGAACCTGAAGCACCAGCCGGGAGGCGGGAAGGTGAGAGTGGCTGGCTGCGCGTGGAGGTGTGGGGGGCTGCGCCTGGAGGGGTAGGGCTGTGCCTGGAAGGGTAGGGCTGCGCCTGGAGGTGCGCGGTTGAGCGTGGAGTCGTGGGACTGTGCATGGAGGTGTGGGGCTCCCCGCACCTGAGCACCCCCGCATAACACCCCAGTCCCCTCTGGACCCTCTTCAAGGAAGTTCAGTTCTTTATTGGGCTCTCCACTACACTGTGAGTGCCCTCCTCAGGCGAGAGAACGTTCTGGCTCTTCTCTTGCCCCTTCAGCCCCTGTTAATCGGACAGAGATGGCAGGGCTGTGTCTCCACGGCCGGAGGCTCTCATAGTCAGGGCACCCACAGCGGTTCCCCACCTGCCTTCTGGGCAGAATACACTGCCACCCATAGGTCAGCATCTCCACTCGTGGGCCATCTGCTTAGGTTGGGTTCCTCTGGATTCTGGGGAGATTGGGGGTTCTGTTTTGATCAGCTGATTCTTCTGGGAGCAAGTGGGTGCTCGCGAGCTCTCCAGCTTCCTAAAGGTGGAGAAGCACAGACTTCGGGGGCCTGGCCTGGATCCCTTTCCCCATTCCTGTCCCTGTGCCCCTCGTCTGGGTGCGTTAGGGCTGACATACAAAGCACCACAGTGAAAGAACAGCAGTATGCCTCCTCACTAGCCAGGTGTGGGCGGGTGGGTTTCTTCCAAGGCCTCTCTGTGGCCGTGGGTAGCCACCTCTGTCCTGCACCGCTGCAGTCTTCCCTCTGTGTGTGCTCCTGGTAGCTCTGCGCATGCTCATCTTCTTATAAGAACACCATGGCAGCTGGGCGTAGTGGCTCACGCCTATAATCCCAGCACTTTGGGAGGCTGAGGCAGGCAGATCACGAGGTCAGGAGTTCGAGACCAACCTGACCAACAGGGTGAAACCTCGTCTCTACTAAAAATACAAAAATACCTGGGCGTGGTGGTGGTGCGCGCCTATAATCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATCGCTTGAACCCAGGAGGCAGAGGTTGCAGTGAGCCGAGATAGTGCCACTGCACTCCAGTTTGAGCAACAGAGCGAGACTCTGTCTCAAAACAAAATAAAACAAACCAAAAAAACCCACCATGGCTTAGGGCCCAGCCTGATGACCTCATTTTTCACTTAGTCACCTCTCTAAAGGCCCTGTCTCCAAATAGAGTCACATTCTAAGGTACGGGGGTGTTGGGGAGGGGGGTTAGGGCTTCAACATGTGAATTTGCGGGGACCACAATTCAGCCCAGGACCCCGCTCCCGCCACCCAGCACTGGGGAGCTGGGGAAGGGTGAAGAGGAGGCTGGGGGTGAGAAGGACCACAGCTCACTCTGAGGCTGCAGATGTGCTGGGCCTTCTGGGCACTGGGCCTCGGGGAGCTAGGGGGCTTTCTGGAACCCTGGGCCTGCGTGTCAGCTTGCCTCCCCCACGCAGGCGCTCTCCACACCATTGAAGTTCTTATCACTTGGGTCTGAGCCTGGGGCATTTGGACGGAGGGTGGCCACCAGTGCACATGGGCACCTTGCCTCAAACCCTGCCACCTCCCCCCACCCAGGATCCCCCCTGCCCCCGAACAAGCTTGTGAGTGCAGTGTCACATCCCATCGGGATGGAAATGGACGGTCGGGTTAAAAGGGACGCATGTGTAGACCCTGCCTCTGTGCATCAGGCCTCTTTTGAGAGTCCCTGCGTGCCAGGCGGTGCACAGAGGTGGAGAAGACTCGGCTGTGCCCCAGAGCACCTCCTCTCATCGAGGAAAGGACAGACAGTGGCTCCCCTGTGGCTGTGGGGACAAGGGCAGAGCTCCCTGGAACACAGGAGGGAGGGAAGGAAGAGAACATCTCAGAATCTCCCTCCTGATGGCAAACGATCCGGGTTAAATTAAGGTCCGGCCTTTTCCTGCTCAGGCATGTGGAGCTTGTAGTGGAAGAGGCTCTCTGGACCCTCATCCACCACAGTGGC
Task1_train_24793
Located on Chromosome 17, this mutation impacts MAPT (microtubule associated protein tau). What is its biological consequence — is it benign or pathogenic, and which disease is associated if any?
Pathogenic; Frontotemporal dementia
AGGTGGGAGAATCGCTTGAGGCCAGAAGTTCAAGACCAGCCTGAGCAACATAGTCAGACCCCGTCTCTATAAAAAACATTATTTTTAAAAAAGACATGGAAGTCAAATTCTAAAAACTGGTGCTGGCTGGGTGCGGTGGCTCATGCCTATAATCCCAGCACTTTGGGAGGCCGAGGCGGGTGGATCACCTGAGGTCAGGAGTTCAAGACCAGCCTGGCCAACATGGTAAAACCTCTACTAAAGAAATCTTTACTGAAAATACAAAAATCCAGTCTCTACTAAAATAAGTCTCTACTAAAAATACAAAAATTAGCCAGGCGTGGTGCTGCACACCTGTAATATCAGCTACTCGGGAGGCTGAGGCAGGAGACTCGCTTGATCCCATGCAGCGGAGGTTGCAGTGAGCCGAGATCACGCCATTGCACTCCAGCCTGGGCATCAGAATAAGACTCCGTCTCAAAAAAAAAACCACAAAAAAACAAAACAACAACAAAAGAAAACTAGTGCTTATTCGTCACTGGCCAAGCTGCCCATTGGCTACATGGGTGCTTCAAAGAGCTGCCCTTCTCCAGGTCTGGCCAGCAGGTATGTGTTACAGCAAATGCCTGGGGCAGCGGCAGGGGCATTGCTGCGGGAAGCTTCTGGACTTGCAGGAAAGCTAAGTTCTCAGACTGCAGGGGAGCTAAGCACACCTCGGCACAGGGTGAGGCCTGCGGTTCTCAGACTTCAGTCTTTGTGGAGCTTGAGAAAAATGAGGCTTTGCAGGTCCCACCCCTAGAGATTCTGCTCTATCCACTCTTGAAGGGGATCGAGAAATTTGCATTTTGCAACTCCCACTTTCCTCCTTGAAAGCTCCGGAGATTCTGACGCAGGGTTCCGTGGGCCACACTTTGGAAAATACAGACCCATGAGATAGAATACCAGACTGTTGAAGTGTAACGGGGGCCTGGGAAGTGCAGTAACAGAAGCAAGTTTGAGGGTAAAGGACACCCAGAGGAGGGAGGGACAGCATCTGCATGGAGAGGAGAAGAGACCCCCCAGCAGCTTCCAGGGTGTTGGAAGGGTGCGCTAGTAACTGCTATGCATGGCAGGTGGGGAACTGTACGTCAGGGCACAGCAGCATGAAGCGGTATGGCTCGTGTGGACAGCTAGGGACAGGCAGGCGTGGAGCAGGCATCCTGTTCTGAAGGCCAAATCCCACAGAGGAGCCAGGGTGCTGGCAGGAGCCCTGAACTAGCCGAACAGCTGAACAGCTGAACATTCACCCTGTGGGGAAAGGGTCAGAAGCGTCCAGGCTTGAGGGCACAGCTGGGTCTCGTCACTGCATCACCCTTATTTAGGATAAAGGCCCTGAAGAATTGTATTAGAGGTTGGCAAAGCATATCTACCACCTCCTGGAGCCACGCTGGCCGCAGGGATTATAATTATTTCCATTTTCAAATTAAGGCCTCTGAGCTCAGAGAGGGGAAGTTACTTGTCTGAGGCCACACAGCTTGTTGGAGCCCATCTCTTGACCCAAAGACTGTGGAGCCGAGTTGGCCACCTCTCTGGGAGCGGGTATTGGATGGTGGTTGATGGTTTTCCATTGCTTTCCTGGGAAAGGGGTGTCTCTGTCCCTAAGCAAAAAGGCAGGGAGGAAGAGATGCTTCCCCAGGGCAGCCGTCTGCTGTAGCTGCGCTTCCAACCTGGCTTCCACCTGCCTAACCCAGTGGTGAGCCTGGGAATGGACCCACGGGACAGGCAGCCCCCAGGGCCTTTTCTGACCCCACCCACTCGAGTCCTGGCTTCACTCCCTTCCTTCCTTCCCAGGTGAACCTCCAAAATCAGGGGATCGCAGCGGCTACAGCAGCCCCGGCTCCCCAGGCACTCCCGGCAGCCGCTCCCGCACCCCGTCCCTTCCAACCCCACCCACCCGGGAGCCCAAGAAGGTGGCAGTGGTCCGTACTCCACCCAAGTCGCCGTCTTCCGCCAAGAGCCGCCTGCAGACAGCCCCCGTGCCCATGCCAGACCTGAAGAATGTCAAGTCCAAGATCGGCTCCACTGAGAACCTGAAGCACCAGCCGGGAGGCGGGAAGGTGAGAGTGGCTGGCTGCGCGTGGAGGTGTGGGGGGCTGCGCCTGGAGGGGTAGGGCTGTGCCTGGAAGGGTAGGGCTGCGCCTGGAGGTGCGCGGTTGAGCGTGGAGTCGTGGGACTGTGCATGGAGGTGTGGGGCTCCCCGCACCTGAGCACCCCCGCATAACACCCCAGTCCCCTCTGGACCCTCTTCAAGGAAGTTCAGTTCTTTATTGGGCTCTCCACTACACTGTGAGTGCCCTCCTCAGGCGAGAGAACGTTCTGGCTCTTCTCTTGCCCCTTCAGCCCCTGTTAATCGGACAGAGATGGCAGGGCTGTGTCTCCACGGCCGGAGGCTCTCATAGTCAGGGCACCCACAGCGGTTCCCCACCTGCCTTCTGGGCAGAATACACTGCCACCCATAGGTCAGCATCTCCACTCGTGGGCCATCTGCTTAGGTTGGGTTCCTCTGGATTCTGGGGAGATTGGGGGTTCTGTTTTGATCAGCTGATTCTTCTGGGAGCAAGTGGGTGCTCGCGAGCTCTCCAGCTTCCTAAAGGTGGAGAAGCACAGACTTCGGGGGCCTGGCCTGGATCCCTTTCCCCATTCCTGTCCCTGTGCCCCTCGTCTGGGTGCGTTAGGGCTGACATACAAAGCACCACAGTGAAAGAACAGCAGTATGCCTCCTCACTAGCCAGGTGTGGGCGGGTGGGTTTCTTCCAAGGCCTCTCTGTGGCCGTGGGTAGCCACCTCTGTCCTGCACCGCTGCAGTCTTCCCTCTGTGTGTGCTCCTGGTAGCTCTGCGCATGCTCATCTTCTTATAAGAACACCATGGCAGCTGGGCGTAGTGGCTCACGCCTATAATCCCAGCACTTTGGGAGGCTGAGGCAGGCAGATCACGAGGTCAGGAGTTCGAGACCAACCTGACCAACAGGGTGAAACCTCGTCTCTACTAAAAATACAAAAATACCTGGGCGTGGTGGTGGTGCGCGCCTATAATCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATCGCTTGAACCCAGGAGGCAGAGGTTGCAGTGAGCCGAGATAGTGCCACTGCACTCCAGTTTGAGCAACAGAGCGAGACTCTGTCTCAAAACAAAATAAAACAAACCAAAAAAACCCACCATGGCTTAGGGCCCAGCCTGATGACCTCATTTTTCACTTAGTCACCTCTCTAAAGGCCCTGTCTCCAAATAGAGTCACATTCTAAGGTACGGGGGTGTTGGGGAGGGGGGTTAGGGCTTCAACATGTGAATTTGCGGGGACCACAATTCAGCCCAGGACCCCGCTCCCGCCACCCAGCACTGGGGAGCTGGGGAAGGGTGAAGAGGAGGCTGGGGGTGAGAAGGACCACAGCTCACTCTGAGGCTGCAGATGTGCTGGGCCTTCTGGGCACTGGGCCTCGGGGAGCTAGGGGGCTTTCTGGAACCCTGGGCCTGCGTGTCAGCTTGCCTCCCCCACGCAGGCGCTCTCCACACCATTGAAGTTCTTATCACTTGGGTCTGAGCCTGGGGCATTTGGACGGAGGGTGGCCACCAGTGCACATGGGCACCTTGCCTCAAACCCTGCCACCTCCCCCCACCCAGGATCCCCCCTGCCCCCGAACAAGCTTGTGAGTGCAGTGTCACATCCCATCGGGATGGAAATGGACGGTCGGGTTAAAAGGGACGCATGTGTAGACCCTGCCTCTGTGCATCAGGCCTCTTTTGAGAGTCCCTGCGTGCCAGGCGGTGCACAGAGGTGGAGAAGACTCGGCTGTGCCCCAGAGCACCTCCTCTCATCGAGGAAAGGACAGACAGTGGCTCCCCTGTGGCTGTGGGGACAAGGGCAGAGCTCCCTGGAACACAGGAGGGAGGGAAGGAAGAGAACATCTCAGAATCTCCCTCCTGATGGCAAACGATCCGGGTTAAATTAAGGTCCGGCCTTTTCCTGCTCAGGCATGTGGAGCTTGTAGTGGAAGAGGCTCTCTGGACCCTCATCCACCACAGTGGCCTGGTTAGAGACCTTGGGGAAATAAC
AGGTGGGAGAATCGCTTGAGGCCAGAAGTTCAAGACCAGCCTGAGCAACATAGTCAGACCCCGTCTCTATAAAAAACATTATTTTTAAAAAAGACATGGAAGTCAAATTCTAAAAACTGGTGCTGGCTGGGTGCGGTGGCTCATGCCTATAATCCCAGCACTTTGGGAGGCCGAGGCGGGTGGATCACCTGAGGTCAGGAGTTCAAGACCAGCCTGGCCAACATGGTAAAACCTCTACTAAAGAAATCTTTACTGAAAATACAAAAATCCAGTCTCTACTAAAATAAGTCTCTACTAAAAATACAAAAATTAGCCAGGCGTGGTGCTGCACACCTGTAATATCAGCTACTCGGGAGGCTGAGGCAGGAGACTCGCTTGATCCCATGCAGCGGAGGTTGCAGTGAGCCGAGATCACGCCATTGCACTCCAGCCTGGGCATCAGAATAAGACTCCGTCTCAAAAAAAAAACCACAAAAAAACAAAACAACAACAAAAGAAAACTAGTGCTTATTCGTCACTGGCCAAGCTGCCCATTGGCTACATGGGTGCTTCAAAGAGCTGCCCTTCTCCAGGTCTGGCCAGCAGGTATGTGTTACAGCAAATGCCTGGGGCAGCGGCAGGGGCATTGCTGCGGGAAGCTTCTGGACTTGCAGGAAAGCTAAGTTCTCAGACTGCAGGGGAGCTAAGCACACCTCGGCACAGGGTGAGGCCTGCGGTTCTCAGACTTCAGTCTTTGTGGAGCTTGAGAAAAATGAGGCTTTGCAGGTCCCACCCCTAGAGATTCTGCTCTATCCACTCTTGAAGGGGATCGAGAAATTTGCATTTTGCAACTCCCACTTTCCTCCTTGAAAGCTCCGGAGATTCTGACGCAGGGTTCCGTGGGCCACACTTTGGAAAATACAGACCCATGAGATAGAATACCAGACTGTTGAAGTGTAACGGGGGCCTGGGAAGTGCAGTAACAGAAGCAAGTTTGAGGGTAAAGGACACCCAGAGGAGGGAGGGACAGCATCTGCATGGAGAGGAGAAGAGACCCCCCAGCAGCTTCCAGGGTGTTGGAAGGGTGCGCTAGTAACTGCTATGCATGGCAGGTGGGGAACTGTACGTCAGGGCACAGCAGCATGAAGCGGTATGGCTCGTGTGGACAGCTAGGGACAGGCAGGCGTGGAGCAGGCATCCTGTTCTGAAGGCCAAATCCCACAGAGGAGCCAGGGTGCTGGCAGGAGCCCTGAACTAGCCGAACAGCTGAACAGCTGAACATTCACCCTGTGGGGAAAGGGTCAGAAGCGTCCAGGCTTGAGGGCACAGCTGGGTCTCGTCACTGCATCACCCTTATTTAGGATAAAGGCCCTGAAGAATTGTATTAGAGGTTGGCAAAGCATATCTACCACCTCCTGGAGCCACGCTGGCCGCAGGGATTATAATTATTTCCATTTTCAAATTAAGGCCTCTGAGCTCAGAGAGGGGAAGTTACTTGTCTGAGGCCACACAGCTTGTTGGAGCCCATCTCTTGACCCAAAGACTGTGGAGCCGAGTTGGCCACCTCTCTGGGAGCGGGTATTGGATGGTGGTTGATGGTTTTCCATTGCTTTCCTGGGAAAGGGGTGTCTCTGTCCCTAAGCAAAAAGGCAGGGAGGAAGAGATGCTTCCCCAGGGCAGCCGTCTGCTGTAGCTGCGCTTCCAACCTGGCTTCCACCTGCCTAACCCAGTGGTGAGCCTGGGAATGGACCCACGGGACAGGCAGCCCCCAGGGCCTTTTCTGACCCCACCCACTCGAGTCCTGGCTTCACTCCCTTCCTTCCTTCCCAGGTGAACCTCCAAAATCAGGGGATCGCAGCGGCTACAGCAGCCCCGGCTCCCCAGGCACTCCCGGCAGCCGCTCCCGCACCCCGTCCCTTCCAACCCCACCCACCCGGGAGCCCAAGAAGGTGGCAGTGGTCCGTACTCCACCCAAGTCGCCGTCTTCCGCCAAGAGCCGCCTGCAGACAGCCCCCGTGCCCATGCCAGACCTGAAGAATGTCAAGTCCAAGATCGGCTCCACTGAGAACGTGAAGCACCAGCCGGGAGGCGGGAAGGTGAGAGTGGCTGGCTGCGCGTGGAGGTGTGGGGGGCTGCGCCTGGAGGGGTAGGGCTGTGCCTGGAAGGGTAGGGCTGCGCCTGGAGGTGCGCGGTTGAGCGTGGAGTCGTGGGACTGTGCATGGAGGTGTGGGGCTCCCCGCACCTGAGCACCCCCGCATAACACCCCAGTCCCCTCTGGACCCTCTTCAAGGAAGTTCAGTTCTTTATTGGGCTCTCCACTACACTGTGAGTGCCCTCCTCAGGCGAGAGAACGTTCTGGCTCTTCTCTTGCCCCTTCAGCCCCTGTTAATCGGACAGAGATGGCAGGGCTGTGTCTCCACGGCCGGAGGCTCTCATAGTCAGGGCACCCACAGCGGTTCCCCACCTGCCTTCTGGGCAGAATACACTGCCACCCATAGGTCAGCATCTCCACTCGTGGGCCATCTGCTTAGGTTGGGTTCCTCTGGATTCTGGGGAGATTGGGGGTTCTGTTTTGATCAGCTGATTCTTCTGGGAGCAAGTGGGTGCTCGCGAGCTCTCCAGCTTCCTAAAGGTGGAGAAGCACAGACTTCGGGGGCCTGGCCTGGATCCCTTTCCCCATTCCTGTCCCTGTGCCCCTCGTCTGGGTGCGTTAGGGCTGACATACAAAGCACCACAGTGAAAGAACAGCAGTATGCCTCCTCACTAGCCAGGTGTGGGCGGGTGGGTTTCTTCCAAGGCCTCTCTGTGGCCGTGGGTAGCCACCTCTGTCCTGCACCGCTGCAGTCTTCCCTCTGTGTGTGCTCCTGGTAGCTCTGCGCATGCTCATCTTCTTATAAGAACACCATGGCAGCTGGGCGTAGTGGCTCACGCCTATAATCCCAGCACTTTGGGAGGCTGAGGCAGGCAGATCACGAGGTCAGGAGTTCGAGACCAACCTGACCAACAGGGTGAAACCTCGTCTCTACTAAAAATACAAAAATACCTGGGCGTGGTGGTGGTGCGCGCCTATAATCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATCGCTTGAACCCAGGAGGCAGAGGTTGCAGTGAGCCGAGATAGTGCCACTGCACTCCAGTTTGAGCAACAGAGCGAGACTCTGTCTCAAAACAAAATAAAACAAACCAAAAAAACCCACCATGGCTTAGGGCCCAGCCTGATGACCTCATTTTTCACTTAGTCACCTCTCTAAAGGCCCTGTCTCCAAATAGAGTCACATTCTAAGGTACGGGGGTGTTGGGGAGGGGGGTTAGGGCTTCAACATGTGAATTTGCGGGGACCACAATTCAGCCCAGGACCCCGCTCCCGCCACCCAGCACTGGGGAGCTGGGGAAGGGTGAAGAGGAGGCTGGGGGTGAGAAGGACCACAGCTCACTCTGAGGCTGCAGATGTGCTGGGCCTTCTGGGCACTGGGCCTCGGGGAGCTAGGGGGCTTTCTGGAACCCTGGGCCTGCGTGTCAGCTTGCCTCCCCCACGCAGGCGCTCTCCACACCATTGAAGTTCTTATCACTTGGGTCTGAGCCTGGGGCATTTGGACGGAGGGTGGCCACCAGTGCACATGGGCACCTTGCCTCAAACCCTGCCACCTCCCCCCACCCAGGATCCCCCCTGCCCCCGAACAAGCTTGTGAGTGCAGTGTCACATCCCATCGGGATGGAAATGGACGGTCGGGTTAAAAGGGACGCATGTGTAGACCCTGCCTCTGTGCATCAGGCCTCTTTTGAGAGTCCCTGCGTGCCAGGCGGTGCACAGAGGTGGAGAAGACTCGGCTGTGCCCCAGAGCACCTCCTCTCATCGAGGAAAGGACAGACAGTGGCTCCCCTGTGGCTGTGGGGACAAGGGCAGAGCTCCCTGGAACACAGGAGGGAGGGAAGGAAGAGAACATCTCAGAATCTCCCTCCTGATGGCAAACGATCCGGGTTAAATTAAGGTCCGGCCTTTTCCTGCTCAGGCATGTGGAGCTTGTAGTGGAAGAGGCTCTCTGGACCCTCATCCACCACAGTGGCCTGGTTAGAGACCTTGGGGAAATAAC
Task1_train_24794
Here is a mutation in MAPT (microtubule associated protein tau) on Chromosome 17. Determine whether it’s benign or pathogenic. If the latter, what disease does it cause?
Pathogenic; Frontotemporal dementia
GGCCAGAAGTTCAAGACCAGCCTGAGCAACATAGTCAGACCCCGTCTCTATAAAAAACATTATTTTTAAAAAAGACATGGAAGTCAAATTCTAAAAACTGGTGCTGGCTGGGTGCGGTGGCTCATGCCTATAATCCCAGCACTTTGGGAGGCCGAGGCGGGTGGATCACCTGAGGTCAGGAGTTCAAGACCAGCCTGGCCAACATGGTAAAACCTCTACTAAAGAAATCTTTACTGAAAATACAAAAATCCAGTCTCTACTAAAATAAGTCTCTACTAAAAATACAAAAATTAGCCAGGCGTGGTGCTGCACACCTGTAATATCAGCTACTCGGGAGGCTGAGGCAGGAGACTCGCTTGATCCCATGCAGCGGAGGTTGCAGTGAGCCGAGATCACGCCATTGCACTCCAGCCTGGGCATCAGAATAAGACTCCGTCTCAAAAAAAAAACCACAAAAAAACAAAACAACAACAAAAGAAAACTAGTGCTTATTCGTCACTGGCCAAGCTGCCCATTGGCTACATGGGTGCTTCAAAGAGCTGCCCTTCTCCAGGTCTGGCCAGCAGGTATGTGTTACAGCAAATGCCTGGGGCAGCGGCAGGGGCATTGCTGCGGGAAGCTTCTGGACTTGCAGGAAAGCTAAGTTCTCAGACTGCAGGGGAGCTAAGCACACCTCGGCACAGGGTGAGGCCTGCGGTTCTCAGACTTCAGTCTTTGTGGAGCTTGAGAAAAATGAGGCTTTGCAGGTCCCACCCCTAGAGATTCTGCTCTATCCACTCTTGAAGGGGATCGAGAAATTTGCATTTTGCAACTCCCACTTTCCTCCTTGAAAGCTCCGGAGATTCTGACGCAGGGTTCCGTGGGCCACACTTTGGAAAATACAGACCCATGAGATAGAATACCAGACTGTTGAAGTGTAACGGGGGCCTGGGAAGTGCAGTAACAGAAGCAAGTTTGAGGGTAAAGGACACCCAGAGGAGGGAGGGACAGCATCTGCATGGAGAGGAGAAGAGACCCCCCAGCAGCTTCCAGGGTGTTGGAAGGGTGCGCTAGTAACTGCTATGCATGGCAGGTGGGGAACTGTACGTCAGGGCACAGCAGCATGAAGCGGTATGGCTCGTGTGGACAGCTAGGGACAGGCAGGCGTGGAGCAGGCATCCTGTTCTGAAGGCCAAATCCCACAGAGGAGCCAGGGTGCTGGCAGGAGCCCTGAACTAGCCGAACAGCTGAACAGCTGAACATTCACCCTGTGGGGAAAGGGTCAGAAGCGTCCAGGCTTGAGGGCACAGCTGGGTCTCGTCACTGCATCACCCTTATTTAGGATAAAGGCCCTGAAGAATTGTATTAGAGGTTGGCAAAGCATATCTACCACCTCCTGGAGCCACGCTGGCCGCAGGGATTATAATTATTTCCATTTTCAAATTAAGGCCTCTGAGCTCAGAGAGGGGAAGTTACTTGTCTGAGGCCACACAGCTTGTTGGAGCCCATCTCTTGACCCAAAGACTGTGGAGCCGAGTTGGCCACCTCTCTGGGAGCGGGTATTGGATGGTGGTTGATGGTTTTCCATTGCTTTCCTGGGAAAGGGGTGTCTCTGTCCCTAAGCAAAAAGGCAGGGAGGAAGAGATGCTTCCCCAGGGCAGCCGTCTGCTGTAGCTGCGCTTCCAACCTGGCTTCCACCTGCCTAACCCAGTGGTGAGCCTGGGAATGGACCCACGGGACAGGCAGCCCCCAGGGCCTTTTCTGACCCCACCCACTCGAGTCCTGGCTTCACTCCCTTCCTTCCTTCCCAGGTGAACCTCCAAAATCAGGGGATCGCAGCGGCTACAGCAGCCCCGGCTCCCCAGGCACTCCCGGCAGCCGCTCCCGCACCCCGTCCCTTCCAACCCCACCCACCCGGGAGCCCAAGAAGGTGGCAGTGGTCCGTACTCCACCCAAGTCGCCGTCTTCCGCCAAGAGCCGCCTGCAGACAGCCCCCGTGCCCATGCCAGACCTGAAGAATGTCAAGTCCAAGATCGGCTCCACTGAGAACCTGAAGCACCAGCCGGGAGGCGGGAAGGTGAGAGTGGCTGGCTGCGCGTGGAGGTGTGGGGGGCTGCGCCTGGAGGGGTAGGGCTGTGCCTGGAAGGGTAGGGCTGCGCCTGGAGGTGCGCGGTTGAGCGTGGAGTCGTGGGACTGTGCATGGAGGTGTGGGGCTCCCCGCACCTGAGCACCCCCGCATAACACCCCAGTCCCCTCTGGACCCTCTTCAAGGAAGTTCAGTTCTTTATTGGGCTCTCCACTACACTGTGAGTGCCCTCCTCAGGCGAGAGAACGTTCTGGCTCTTCTCTTGCCCCTTCAGCCCCTGTTAATCGGACAGAGATGGCAGGGCTGTGTCTCCACGGCCGGAGGCTCTCATAGTCAGGGCACCCACAGCGGTTCCCCACCTGCCTTCTGGGCAGAATACACTGCCACCCATAGGTCAGCATCTCCACTCGTGGGCCATCTGCTTAGGTTGGGTTCCTCTGGATTCTGGGGAGATTGGGGGTTCTGTTTTGATCAGCTGATTCTTCTGGGAGCAAGTGGGTGCTCGCGAGCTCTCCAGCTTCCTAAAGGTGGAGAAGCACAGACTTCGGGGGCCTGGCCTGGATCCCTTTCCCCATTCCTGTCCCTGTGCCCCTCGTCTGGGTGCGTTAGGGCTGACATACAAAGCACCACAGTGAAAGAACAGCAGTATGCCTCCTCACTAGCCAGGTGTGGGCGGGTGGGTTTCTTCCAAGGCCTCTCTGTGGCCGTGGGTAGCCACCTCTGTCCTGCACCGCTGCAGTCTTCCCTCTGTGTGTGCTCCTGGTAGCTCTGCGCATGCTCATCTTCTTATAAGAACACCATGGCAGCTGGGCGTAGTGGCTCACGCCTATAATCCCAGCACTTTGGGAGGCTGAGGCAGGCAGATCACGAGGTCAGGAGTTCGAGACCAACCTGACCAACAGGGTGAAACCTCGTCTCTACTAAAAATACAAAAATACCTGGGCGTGGTGGTGGTGCGCGCCTATAATCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATCGCTTGAACCCAGGAGGCAGAGGTTGCAGTGAGCCGAGATAGTGCCACTGCACTCCAGTTTGAGCAACAGAGCGAGACTCTGTCTCAAAACAAAATAAAACAAACCAAAAAAACCCACCATGGCTTAGGGCCCAGCCTGATGACCTCATTTTTCACTTAGTCACCTCTCTAAAGGCCCTGTCTCCAAATAGAGTCACATTCTAAGGTACGGGGGTGTTGGGGAGGGGGGTTAGGGCTTCAACATGTGAATTTGCGGGGACCACAATTCAGCCCAGGACCCCGCTCCCGCCACCCAGCACTGGGGAGCTGGGGAAGGGTGAAGAGGAGGCTGGGGGTGAGAAGGACCACAGCTCACTCTGAGGCTGCAGATGTGCTGGGCCTTCTGGGCACTGGGCCTCGGGGAGCTAGGGGGCTTTCTGGAACCCTGGGCCTGCGTGTCAGCTTGCCTCCCCCACGCAGGCGCTCTCCACACCATTGAAGTTCTTATCACTTGGGTCTGAGCCTGGGGCATTTGGACGGAGGGTGGCCACCAGTGCACATGGGCACCTTGCCTCAAACCCTGCCACCTCCCCCCACCCAGGATCCCCCCTGCCCCCGAACAAGCTTGTGAGTGCAGTGTCACATCCCATCGGGATGGAAATGGACGGTCGGGTTAAAAGGGACGCATGTGTAGACCCTGCCTCTGTGCATCAGGCCTCTTTTGAGAGTCCCTGCGTGCCAGGCGGTGCACAGAGGTGGAGAAGACTCGGCTGTGCCCCAGAGCACCTCCTCTCATCGAGGAAAGGACAGACAGTGGCTCCCCTGTGGCTGTGGGGACAAGGGCAGAGCTCCCTGGAACACAGGAGGGAGGGAAGGAAGAGAACATCTCAGAATCTCCCTCCTGATGGCAAACGATCCGGGTTAAATTAAGGTCCGGCCTTTTCCTGCTCAGGCATGTGGAGCTTGTAGTGGAAGAGGCTCTCTGGACCCTCATCCACCACAGTGGCCTGGTTAGAGACCTTGGGGAAATAACTCACAGGTGACCCAGGGCC
GGCCAGAAGTTCAAGACCAGCCTGAGCAACATAGTCAGACCCCGTCTCTATAAAAAACATTATTTTTAAAAAAGACATGGAAGTCAAATTCTAAAAACTGGTGCTGGCTGGGTGCGGTGGCTCATGCCTATAATCCCAGCACTTTGGGAGGCCGAGGCGGGTGGATCACCTGAGGTCAGGAGTTCAAGACCAGCCTGGCCAACATGGTAAAACCTCTACTAAAGAAATCTTTACTGAAAATACAAAAATCCAGTCTCTACTAAAATAAGTCTCTACTAAAAATACAAAAATTAGCCAGGCGTGGTGCTGCACACCTGTAATATCAGCTACTCGGGAGGCTGAGGCAGGAGACTCGCTTGATCCCATGCAGCGGAGGTTGCAGTGAGCCGAGATCACGCCATTGCACTCCAGCCTGGGCATCAGAATAAGACTCCGTCTCAAAAAAAAAACCACAAAAAAACAAAACAACAACAAAAGAAAACTAGTGCTTATTCGTCACTGGCCAAGCTGCCCATTGGCTACATGGGTGCTTCAAAGAGCTGCCCTTCTCCAGGTCTGGCCAGCAGGTATGTGTTACAGCAAATGCCTGGGGCAGCGGCAGGGGCATTGCTGCGGGAAGCTTCTGGACTTGCAGGAAAGCTAAGTTCTCAGACTGCAGGGGAGCTAAGCACACCTCGGCACAGGGTGAGGCCTGCGGTTCTCAGACTTCAGTCTTTGTGGAGCTTGAGAAAAATGAGGCTTTGCAGGTCCCACCCCTAGAGATTCTGCTCTATCCACTCTTGAAGGGGATCGAGAAATTTGCATTTTGCAACTCCCACTTTCCTCCTTGAAAGCTCCGGAGATTCTGACGCAGGGTTCCGTGGGCCACACTTTGGAAAATACAGACCCATGAGATAGAATACCAGACTGTTGAAGTGTAACGGGGGCCTGGGAAGTGCAGTAACAGAAGCAAGTTTGAGGGTAAAGGACACCCAGAGGAGGGAGGGACAGCATCTGCATGGAGAGGAGAAGAGACCCCCCAGCAGCTTCCAGGGTGTTGGAAGGGTGCGCTAGTAACTGCTATGCATGGCAGGTGGGGAACTGTACGTCAGGGCACAGCAGCATGAAGCGGTATGGCTCGTGTGGACAGCTAGGGACAGGCAGGCGTGGAGCAGGCATCCTGTTCTGAAGGCCAAATCCCACAGAGGAGCCAGGGTGCTGGCAGGAGCCCTGAACTAGCCGAACAGCTGAACAGCTGAACATTCACCCTGTGGGGAAAGGGTCAGAAGCGTCCAGGCTTGAGGGCACAGCTGGGTCTCGTCACTGCATCACCCTTATTTAGGATAAAGGCCCTGAAGAATTGTATTAGAGGTTGGCAAAGCATATCTACCACCTCCTGGAGCCACGCTGGCCGCAGGGATTATAATTATTTCCATTTTCAAATTAAGGCCTCTGAGCTCAGAGAGGGGAAGTTACTTGTCTGAGGCCACACAGCTTGTTGGAGCCCATCTCTTGACCCAAAGACTGTGGAGCCGAGTTGGCCACCTCTCTGGGAGCGGGTATTGGATGGTGGTTGATGGTTTTCCATTGCTTTCCTGGGAAAGGGGTGTCTCTGTCCCTAAGCAAAAAGGCAGGGAGGAAGAGATGCTTCCCCAGGGCAGCCGTCTGCTGTAGCTGCGCTTCCAACCTGGCTTCCACCTGCCTAACCCAGTGGTGAGCCTGGGAATGGACCCACGGGACAGGCAGCCCCCAGGGCCTTTTCTGACCCCACCCACTCGAGTCCTGGCTTCACTCCCTTCCTTCCTTCCCAGGTGAACCTCCAAAATCAGGGGATCGCAGCGGCTACAGCAGCCCCGGCTCCCCAGGCACTCCCGGCAGCCGCTCCCGCACCCCGTCCCTTCCAACCCCACCCACCCGGGAGCCCAAGAAGGTGGCAGTGGTCCGTACTCCACCCAAGTCGCCGTCTTCCGCCAAGAGCCGCCTGCAGACAGCCCCCGTGCCCATGCCAGACCTGAAGAATGTCAAGTCCAAGATCGGCTCCACTGAGAACCTGAAGCACCAGCCGGGAGTCGGGAAGGTGAGAGTGGCTGGCTGCGCGTGGAGGTGTGGGGGGCTGCGCCTGGAGGGGTAGGGCTGTGCCTGGAAGGGTAGGGCTGCGCCTGGAGGTGCGCGGTTGAGCGTGGAGTCGTGGGACTGTGCATGGAGGTGTGGGGCTCCCCGCACCTGAGCACCCCCGCATAACACCCCAGTCCCCTCTGGACCCTCTTCAAGGAAGTTCAGTTCTTTATTGGGCTCTCCACTACACTGTGAGTGCCCTCCTCAGGCGAGAGAACGTTCTGGCTCTTCTCTTGCCCCTTCAGCCCCTGTTAATCGGACAGAGATGGCAGGGCTGTGTCTCCACGGCCGGAGGCTCTCATAGTCAGGGCACCCACAGCGGTTCCCCACCTGCCTTCTGGGCAGAATACACTGCCACCCATAGGTCAGCATCTCCACTCGTGGGCCATCTGCTTAGGTTGGGTTCCTCTGGATTCTGGGGAGATTGGGGGTTCTGTTTTGATCAGCTGATTCTTCTGGGAGCAAGTGGGTGCTCGCGAGCTCTCCAGCTTCCTAAAGGTGGAGAAGCACAGACTTCGGGGGCCTGGCCTGGATCCCTTTCCCCATTCCTGTCCCTGTGCCCCTCGTCTGGGTGCGTTAGGGCTGACATACAAAGCACCACAGTGAAAGAACAGCAGTATGCCTCCTCACTAGCCAGGTGTGGGCGGGTGGGTTTCTTCCAAGGCCTCTCTGTGGCCGTGGGTAGCCACCTCTGTCCTGCACCGCTGCAGTCTTCCCTCTGTGTGTGCTCCTGGTAGCTCTGCGCATGCTCATCTTCTTATAAGAACACCATGGCAGCTGGGCGTAGTGGCTCACGCCTATAATCCCAGCACTTTGGGAGGCTGAGGCAGGCAGATCACGAGGTCAGGAGTTCGAGACCAACCTGACCAACAGGGTGAAACCTCGTCTCTACTAAAAATACAAAAATACCTGGGCGTGGTGGTGGTGCGCGCCTATAATCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATCGCTTGAACCCAGGAGGCAGAGGTTGCAGTGAGCCGAGATAGTGCCACTGCACTCCAGTTTGAGCAACAGAGCGAGACTCTGTCTCAAAACAAAATAAAACAAACCAAAAAAACCCACCATGGCTTAGGGCCCAGCCTGATGACCTCATTTTTCACTTAGTCACCTCTCTAAAGGCCCTGTCTCCAAATAGAGTCACATTCTAAGGTACGGGGGTGTTGGGGAGGGGGGTTAGGGCTTCAACATGTGAATTTGCGGGGACCACAATTCAGCCCAGGACCCCGCTCCCGCCACCCAGCACTGGGGAGCTGGGGAAGGGTGAAGAGGAGGCTGGGGGTGAGAAGGACCACAGCTCACTCTGAGGCTGCAGATGTGCTGGGCCTTCTGGGCACTGGGCCTCGGGGAGCTAGGGGGCTTTCTGGAACCCTGGGCCTGCGTGTCAGCTTGCCTCCCCCACGCAGGCGCTCTCCACACCATTGAAGTTCTTATCACTTGGGTCTGAGCCTGGGGCATTTGGACGGAGGGTGGCCACCAGTGCACATGGGCACCTTGCCTCAAACCCTGCCACCTCCCCCCACCCAGGATCCCCCCTGCCCCCGAACAAGCTTGTGAGTGCAGTGTCACATCCCATCGGGATGGAAATGGACGGTCGGGTTAAAAGGGACGCATGTGTAGACCCTGCCTCTGTGCATCAGGCCTCTTTTGAGAGTCCCTGCGTGCCAGGCGGTGCACAGAGGTGGAGAAGACTCGGCTGTGCCCCAGAGCACCTCCTCTCATCGAGGAAAGGACAGACAGTGGCTCCCCTGTGGCTGTGGGGACAAGGGCAGAGCTCCCTGGAACACAGGAGGGAGGGAAGGAAGAGAACATCTCAGAATCTCCCTCCTGATGGCAAACGATCCGGGTTAAATTAAGGTCCGGCCTTTTCCTGCTCAGGCATGTGGAGCTTGTAGTGGAAGAGGCTCTCTGGACCCTCATCCACCACAGTGGCCTGGTTAGAGACCTTGGGGAAATAACTCACAGGTGACCCAGGGCC
Task1_train_24795
This variant lies on Chromosome 17 and affects the gene MAPT (microtubule associated protein tau). Based on this context, is the mutation pathogenic or benign? If pathogenic, what disease does it cause?
Pathogenic; Frontotemporal dementia
GACGGGGTTTCACCACGTTGGCCAGGCTGCTCTTGAACTCCTGACGTCAGGTGATCCACCAGCCTTGACCTCCCAAAGTGCTAGGATTACAGGAGCCACTGTACCCAGCCTAGGATATGATATCACTTCTTAGAGCAAGATACAAAATTGCATGTGCACAATAATTCTACCAAGTATAGGTATACAGGGGTAGTTATATATAAATGAGACTTCAAGGAAATACAACAAAATGCAATCGTGATTGTGTTAGGGTGGTAAGAAAACGGTTTTTGCTTTGATGAGCTCTGTTTTTTAAAATCGTTATATTTTCTAATAAAAATACATAGTCTTTTGAAGGAACATAAAAGATTATGAAGAAATGAGTTAGATATTGATTCCTATTGAAGATTCAGACAAGTAAAATTAAGGGGAAAAAAAACGGGATGAACCAGAAGTCAGGCTGGAGTTCCAACCCCAGATCCGACAGCCCAGGCTGATGGGGCCTCCAGGGCAGTGGTTTCCACCCAGCATTCTCAAAAGAGCCACTGAGGTCTCAGTGCCATTTTCAAGATTTCGGAAGCGGCCTGGGCACGGCTGGTCCTTCACTGGGATCACCACTTGGCAATTATTTACACCTGAGACGAATAAAAACCAGAGTGCTGAGATTACAGGCATGGTGGCTTACGCTTGTAATCGGCTTTGGGAAGCCGAGGTGGGCTGATTGCTTGAGCCCAGGAGTTTCAAACTATCCTGGACAACATAGCATGACCTCGTCTCTACAAAAAATACAAAAAATTTGCCAGGTGTGGTGGCATGTGCCTGTGGTCCCAGCTACTTGGGAGGCTGAAGTAGGAGAATCCCCTGAGCCCTGGGAAGTCGAGGCTGCACTGAGCCGTGATGGTGTCACTGCACTCCAGCCTGGGTGACAAAGTGAGACCCTATCTCACAAAGAAAAAAAACAAAACAAAAAACCCAAAGCACACTGTTTCCACTGTTTCCAGAGTTCCTGAGAGGAAAGGTCACCGGGTGAGGAAGACGTTCTCACTGATCTGGCAGAGAAAATGTCCAGTTTTTCCAACTCCCTAAACCATGGTTTTCTATTTCATAGTTCTTAGGCAAATTGGTAAAAATCATTTCTCATCAAAACGCTGATATTTTCACACCTCCCTGGTGTCTGCAGAAAGAACCTTCCAGAAATGCAGTCGTGGGAGACCCATCCAGGCCACCCCTGCTTATGGAAGAGCTGAGAAAAAGCCCCACGGGAGCATTTGCTCAGCTTCCGTTACGCACCTAGTGGCATTGTGGGTGGGAGAGGGCTGGTGGGTGGATGGAAGGAGAAGGCACAGCCCCCCCTTGCAGGGACAGAGCCCTCGTACAGAAGGGACACCCCACATTTGTCTTCCCCACAAAGCGGCCTGTGTCCTGCCTACGGGGTCAGGGCTTCTCAAACCTGGCTGTGTGTCAGAATCACCAGGGGAACTTTTCAAAACTAGAGAGACTGAAGCCAGACTCCTAGATTCTAATTCTAGGTCAGGGCTAGGGGCTGAGATTGTAAAAATCCACAGGTGATTCTGATGCCCGGCAGGCTTGAGAACAGCCGCAGGGAGTTCTCTGGGAATGTGCCGGTGGGTCTAGCCAGGTGTGAGTGGAGATGCCGGGGAACTTCCTATTACTCACTCGTCAGTGTGGCCGAACACATTTTTCACTTGACCTCAGGCTGGTGAACGCTCCCCTCTGGGGTTCAGGCCTCACGATGCCATCCTTTTGTGAAGTGAGGACCTGCAATCCCAGCTTCGTAAAGCCCGCTGGAAATCACTCACACTTCTGGGATGCCTTCAGAGCAGCCCTCTATCCCTTCAGCTCCCCTGGGATGTGACTCAACCTCCCGTCACTCCCCAGACTGCCTCTGCCAAGTCCGAAAGTGGAGGCATCCTTGCGAGCAAGTAGGCGGGTCCAGGGTGGCGCATGTCACTCATCGAAAGTGGAGGCGTCCTTGCGAGCAAGCAGGCGGGTCCAGGGTGGCGTGTCACTCATCCTTTTTTCTGGCTACCAAAGGTGCAGATAATTAATAAGAAGCTGGATCTTAGCAACGTCCAGTCCAAGTGTGGCTCAAAGGATAATATCAAACACGTCCCGGGAGGCGGCAGTGTGAGTACCTTCACACGTCCCATGCGCCGTGCTGTGGCTTGAATTATTAGGAAGTGGTGTGAGTGCGTACACTTGCGAGACACTGCATAGAATAAATCCTTCTTGGGCTCTCAGGATCTGGCTGCGACCTCTGGGTGAATGTAGCCCGGCTCCCCACATTCCCCCACACGGTCCACTGTTCCCAGAAGCCCCTTCCTCATATTCTAGGAGGGGGTGTCCCAGCATTTCTGGGTCCCCCAGCCTGCGCAGGCTGTGTGGACAGAATAGGGCAGATGACGGACCCTCTCTCCGGACCCTGCCTGGGAAGCTGAGAATACCCATCAAAGTCTCCTTCCACTCATGCCCAGCCCTGTCCCCAGGAGCCCCATAGCCCATTGGAAGTTGGGCTGAAGGTGGTGGCACCTGAGACTGGGCTGCCGCCTCCTCCCCCGACACCTGGGCAGGTTGACGTTGAGTGGCTCCACTGTGGACAGGTGACCCGTTTGTTCTGATGAGCGGACACCAAGGTCTTACTGTCCTGCTCAGCTGCTGCTCCTACACGTTCAAGGCAGGAGCCGATTCCTAAGCCTCCAGCTTATGCTTAGCCTGCGCCACCCTCTGGCAGAGACTCCAGATGCAAAGAGCCAAACCAAAGTGCGACAGGTCCCTCTGCCCAGCGTTGAGGTGTGGCAGAGAAATGCTGCTTTTGGCCCTTTTAGATTTGGCTGCCTCTTGCCAGGAGTGGTGGCTCGTGCCTGTAATTCCAGCACTTTGGGAGACTAAGGCGGGAGGTTCGCTTGAGCCCAGGAGTTCAAGACCAGCCTGGGCAACAATGAGACCCCTGTGTCTACAAAAAGAATTAAAATTAGCCAGGTGTGGTGGCACGCACCTGTAGTCCCAGCTACTTGGGAGGCTGAGGTGGGAGGATTGCCTGAGTCCGGGAGGCGGAAGTTGCAAGGAGCCATGATCGCGCCACTGCACTTCAACCTAGGCAACAGAGTGAGACTTTGTCTCAAAAAACAATCATATAATAATTTTAAAATAAATAGATTTGGCTTCCTCTAAATGTCCCCGGGGACTCCGTGCATCTTCTGTGGAGTGTCTCCGTGAGATTCGGGACTCAGATCCTCAAGTGCAACTGACCCACCCGATAAGCTGAGGCTTCATCATCCCCTGGCCGGTCTATGTCGACTGGGCACCCGAGGCTCCTCTCCCACCAGCTCTCTTGGTCAGCTGAAAGCAAACTGTTAACACCCTGGGGAGCTGGACGTATGAGACCCTTGGGGTGGGAGGCGTTGATTTTTGAGAGCAATCACCTGGCCCTGGCTGGCAGTACCGGGACACTGCTGTGGCTCCGGGGTGGGCTGTCTCCAGAAAATGCCTGGCCTGAGGCAGCCACCCGCATCCAGCCCAGAGGGTTTATTCTTGCAATGTGCTGCTGCTTCCTGCCCTGAGCACCTGGATCCCGGCTTCTGCCCTGAGGCCCCTTGAGTCCCACAGGTAGCAAGCGCTTGCCCTGCGGCTGCTGCATGGGGCTAACTAACGCTTCCTCACCAGTGTCTGCTAAGTGTCTCCTCTGTCTCCCACGCCCTGCTCTCCTGTCCCCCCAGTTTGTCTGCTGTGAGGGGACAGAAGAGGTGTGTGCCGCCCCCACCCCTGCCCGGGCCCTTGTTCCTGGGATTGCTGTTTTCAGCTGTTTGAGCTTTGATCCTGGTTCTCTGGCTTCCTCAAAGTGAGCTCGGCCAGAGGAGGAAGGCCATGTGCTTTCTGGTTGAAGTCAAGTCTGGTGCCCTGGTGGAGGCTGTGCTGCTGAGGCGGAGCTGGGGAGAGAGTGCACACGGGCTGCGTGGCCAACCCCTCTGGGTAGCTGATGCCCAAAGACGCTGCAGTGCCCAGGACATCTGGGACCTCCCTGGGGCCCGCCCGTGTGTCCCGCGCTGTGTTCATCTGCGGGCTAGCCTGTGACCCGCGCTGTGCTCGTCTGCGGGCT
GACGGGGTTTCACCACGTTGGCCAGGCTGCTCTTGAACTCCTGACGTCAGGTGATCCACCAGCCTTGACCTCCCAAAGTGCTAGGATTACAGGAGCCACTGTACCCAGCCTAGGATATGATATCACTTCTTAGAGCAAGATACAAAATTGCATGTGCACAATAATTCTACCAAGTATAGGTATACAGGGGTAGTTATATATAAATGAGACTTCAAGGAAATACAACAAAATGCAATCGTGATTGTGTTAGGGTGGTAAGAAAACGGTTTTTGCTTTGATGAGCTCTGTTTTTTAAAATCGTTATATTTTCTAATAAAAATACATAGTCTTTTGAAGGAACATAAAAGATTATGAAGAAATGAGTTAGATATTGATTCCTATTGAAGATTCAGACAAGTAAAATTAAGGGGAAAAAAAACGGGATGAACCAGAAGTCAGGCTGGAGTTCCAACCCCAGATCCGACAGCCCAGGCTGATGGGGCCTCCAGGGCAGTGGTTTCCACCCAGCATTCTCAAAAGAGCCACTGAGGTCTCAGTGCCATTTTCAAGATTTCGGAAGCGGCCTGGGCACGGCTGGTCCTTCACTGGGATCACCACTTGGCAATTATTTACACCTGAGACGAATAAAAACCAGAGTGCTGAGATTACAGGCATGGTGGCTTACGCTTGTAATCGGCTTTGGGAAGCCGAGGTGGGCTGATTGCTTGAGCCCAGGAGTTTCAAACTATCCTGGACAACATAGCATGACCTCGTCTCTACAAAAAATACAAAAAATTTGCCAGGTGTGGTGGCATGTGCCTGTGGTCCCAGCTACTTGGGAGGCTGAAGTAGGAGAATCCCCTGAGCCCTGGGAAGTCGAGGCTGCACTGAGCCGTGATGGTGTCACTGCACTCCAGCCTGGGTGACAAAGTGAGACCCTATCTCACAAAGAAAAAAAACAAAACAAAAAACCCAAAGCACACTGTTTCCACTGTTTCCAGAGTTCCTGAGAGGAAAGGTCACCGGGTGAGGAAGACGTTCTCACTGATCTGGCAGAGAAAATGTCCAGTTTTTCCAACTCCCTAAACCATGGTTTTCTATTTCATAGTTCTTAGGCAAATTGGTAAAAATCATTTCTCATCAAAACGCTGATATTTTCACACCTCCCTGGTGTCTGCAGAAAGAACCTTCCAGAAATGCAGTCGTGGGAGACCCATCCAGGCCACCCCTGCTTATGGAAGAGCTGAGAAAAAGCCCCACGGGAGCATTTGCTCAGCTTCCGTTACGCACCTAGTGGCATTGTGGGTGGGAGAGGGCTGGTGGGTGGATGGAAGGAGAAGGCACAGCCCCCCCTTGCAGGGACAGAGCCCTCGTACAGAAGGGACACCCCACATTTGTCTTCCCCACAAAGCGGCCTGTGTCCTGCCTACGGGGTCAGGGCTTCTCAAACCTGGCTGTGTGTCAGAATCACCAGGGGAACTTTTCAAAACTAGAGAGACTGAAGCCAGACTCCTAGATTCTAATTCTAGGTCAGGGCTAGGGGCTGAGATTGTAAAAATCCACAGGTGATTCTGATGCCCGGCAGGCTTGAGAACAGCCGCAGGGAGTTCTCTGGGAATGTGCCGGTGGGTCTAGCCAGGTGTGAGTGGAGATGCCGGGGAACTTCCTATTACTCACTCGTCAGTGTGGCCGAACACATTTTTCACTTGACCTCAGGCTGGTGAACGCTCCCCTCTGGGGTTCAGGCCTCACGATGCCATCCTTTTGTGAAGTGAGGACCTGCAATCCCAGCTTCGTAAAGCCCGCTGGAAATCACTCACACTTCTGGGATGCCTTCAGAGCAGCCCTCTATCCCTTCAGCTCCCCTGGGATGTGACTCAACCTCCCGTCACTCCCCAGACTGCCTCTGCCAAGTCCGAAAGTGGAGGCATCCTTGCGAGCAAGTAGGCGGGTCCAGGGTGGCGCATGTCACTCATCGAAAGTGGAGGCGTCCTTGCGAGCAAGCAGGCGGGTCCAGGGTGGCGTGTCACTCATCCTTTTTTCTGGCTACCAAAGGTGCAGATAATTAAGAAGAAGCTGGATCTTAGCAACGTCCAGTCCAAGTGTGGCTCAAAGGATAATATCAAACACGTCCCGGGAGGCGGCAGTGTGAGTACCTTCACACGTCCCATGCGCCGTGCTGTGGCTTGAATTATTAGGAAGTGGTGTGAGTGCGTACACTTGCGAGACACTGCATAGAATAAATCCTTCTTGGGCTCTCAGGATCTGGCTGCGACCTCTGGGTGAATGTAGCCCGGCTCCCCACATTCCCCCACACGGTCCACTGTTCCCAGAAGCCCCTTCCTCATATTCTAGGAGGGGGTGTCCCAGCATTTCTGGGTCCCCCAGCCTGCGCAGGCTGTGTGGACAGAATAGGGCAGATGACGGACCCTCTCTCCGGACCCTGCCTGGGAAGCTGAGAATACCCATCAAAGTCTCCTTCCACTCATGCCCAGCCCTGTCCCCAGGAGCCCCATAGCCCATTGGAAGTTGGGCTGAAGGTGGTGGCACCTGAGACTGGGCTGCCGCCTCCTCCCCCGACACCTGGGCAGGTTGACGTTGAGTGGCTCCACTGTGGACAGGTGACCCGTTTGTTCTGATGAGCGGACACCAAGGTCTTACTGTCCTGCTCAGCTGCTGCTCCTACACGTTCAAGGCAGGAGCCGATTCCTAAGCCTCCAGCTTATGCTTAGCCTGCGCCACCCTCTGGCAGAGACTCCAGATGCAAAGAGCCAAACCAAAGTGCGACAGGTCCCTCTGCCCAGCGTTGAGGTGTGGCAGAGAAATGCTGCTTTTGGCCCTTTTAGATTTGGCTGCCTCTTGCCAGGAGTGGTGGCTCGTGCCTGTAATTCCAGCACTTTGGGAGACTAAGGCGGGAGGTTCGCTTGAGCCCAGGAGTTCAAGACCAGCCTGGGCAACAATGAGACCCCTGTGTCTACAAAAAGAATTAAAATTAGCCAGGTGTGGTGGCACGCACCTGTAGTCCCAGCTACTTGGGAGGCTGAGGTGGGAGGATTGCCTGAGTCCGGGAGGCGGAAGTTGCAAGGAGCCATGATCGCGCCACTGCACTTCAACCTAGGCAACAGAGTGAGACTTTGTCTCAAAAAACAATCATATAATAATTTTAAAATAAATAGATTTGGCTTCCTCTAAATGTCCCCGGGGACTCCGTGCATCTTCTGTGGAGTGTCTCCGTGAGATTCGGGACTCAGATCCTCAAGTGCAACTGACCCACCCGATAAGCTGAGGCTTCATCATCCCCTGGCCGGTCTATGTCGACTGGGCACCCGAGGCTCCTCTCCCACCAGCTCTCTTGGTCAGCTGAAAGCAAACTGTTAACACCCTGGGGAGCTGGACGTATGAGACCCTTGGGGTGGGAGGCGTTGATTTTTGAGAGCAATCACCTGGCCCTGGCTGGCAGTACCGGGACACTGCTGTGGCTCCGGGGTGGGCTGTCTCCAGAAAATGCCTGGCCTGAGGCAGCCACCCGCATCCAGCCCAGAGGGTTTATTCTTGCAATGTGCTGCTGCTTCCTGCCCTGAGCACCTGGATCCCGGCTTCTGCCCTGAGGCCCCTTGAGTCCCACAGGTAGCAAGCGCTTGCCCTGCGGCTGCTGCATGGGGCTAACTAACGCTTCCTCACCAGTGTCTGCTAAGTGTCTCCTCTGTCTCCCACGCCCTGCTCTCCTGTCCCCCCAGTTTGTCTGCTGTGAGGGGACAGAAGAGGTGTGTGCCGCCCCCACCCCTGCCCGGGCCCTTGTTCCTGGGATTGCTGTTTTCAGCTGTTTGAGCTTTGATCCTGGTTCTCTGGCTTCCTCAAAGTGAGCTCGGCCAGAGGAGGAAGGCCATGTGCTTTCTGGTTGAAGTCAAGTCTGGTGCCCTGGTGGAGGCTGTGCTGCTGAGGCGGAGCTGGGGAGAGAGTGCACACGGGCTGCGTGGCCAACCCCTCTGGGTAGCTGATGCCCAAAGACGCTGCAGTGCCCAGGACATCTGGGACCTCCCTGGGGCCCGCCCGTGTGTCCCGCGCTGTGTTCATCTGCGGGCTAGCCTGTGACCCGCGCTGTGCTCGTCTGCGGGCT
Task1_train_24796
A variant has been detected on Chromosome 17 in MAPT (microtubule associated protein tau). What is its effect — pathogenic or benign? If pathogenic, name the disease.
Pathogenic; Progressive supranuclear ophthalmoplegia
GACGGGGTTTCACCACGTTGGCCAGGCTGCTCTTGAACTCCTGACGTCAGGTGATCCACCAGCCTTGACCTCCCAAAGTGCTAGGATTACAGGAGCCACTGTACCCAGCCTAGGATATGATATCACTTCTTAGAGCAAGATACAAAATTGCATGTGCACAATAATTCTACCAAGTATAGGTATACAGGGGTAGTTATATATAAATGAGACTTCAAGGAAATACAACAAAATGCAATCGTGATTGTGTTAGGGTGGTAAGAAAACGGTTTTTGCTTTGATGAGCTCTGTTTTTTAAAATCGTTATATTTTCTAATAAAAATACATAGTCTTTTGAAGGAACATAAAAGATTATGAAGAAATGAGTTAGATATTGATTCCTATTGAAGATTCAGACAAGTAAAATTAAGGGGAAAAAAAACGGGATGAACCAGAAGTCAGGCTGGAGTTCCAACCCCAGATCCGACAGCCCAGGCTGATGGGGCCTCCAGGGCAGTGGTTTCCACCCAGCATTCTCAAAAGAGCCACTGAGGTCTCAGTGCCATTTTCAAGATTTCGGAAGCGGCCTGGGCACGGCTGGTCCTTCACTGGGATCACCACTTGGCAATTATTTACACCTGAGACGAATAAAAACCAGAGTGCTGAGATTACAGGCATGGTGGCTTACGCTTGTAATCGGCTTTGGGAAGCCGAGGTGGGCTGATTGCTTGAGCCCAGGAGTTTCAAACTATCCTGGACAACATAGCATGACCTCGTCTCTACAAAAAATACAAAAAATTTGCCAGGTGTGGTGGCATGTGCCTGTGGTCCCAGCTACTTGGGAGGCTGAAGTAGGAGAATCCCCTGAGCCCTGGGAAGTCGAGGCTGCACTGAGCCGTGATGGTGTCACTGCACTCCAGCCTGGGTGACAAAGTGAGACCCTATCTCACAAAGAAAAAAAACAAAACAAAAAACCCAAAGCACACTGTTTCCACTGTTTCCAGAGTTCCTGAGAGGAAAGGTCACCGGGTGAGGAAGACGTTCTCACTGATCTGGCAGAGAAAATGTCCAGTTTTTCCAACTCCCTAAACCATGGTTTTCTATTTCATAGTTCTTAGGCAAATTGGTAAAAATCATTTCTCATCAAAACGCTGATATTTTCACACCTCCCTGGTGTCTGCAGAAAGAACCTTCCAGAAATGCAGTCGTGGGAGACCCATCCAGGCCACCCCTGCTTATGGAAGAGCTGAGAAAAAGCCCCACGGGAGCATTTGCTCAGCTTCCGTTACGCACCTAGTGGCATTGTGGGTGGGAGAGGGCTGGTGGGTGGATGGAAGGAGAAGGCACAGCCCCCCCTTGCAGGGACAGAGCCCTCGTACAGAAGGGACACCCCACATTTGTCTTCCCCACAAAGCGGCCTGTGTCCTGCCTACGGGGTCAGGGCTTCTCAAACCTGGCTGTGTGTCAGAATCACCAGGGGAACTTTTCAAAACTAGAGAGACTGAAGCCAGACTCCTAGATTCTAATTCTAGGTCAGGGCTAGGGGCTGAGATTGTAAAAATCCACAGGTGATTCTGATGCCCGGCAGGCTTGAGAACAGCCGCAGGGAGTTCTCTGGGAATGTGCCGGTGGGTCTAGCCAGGTGTGAGTGGAGATGCCGGGGAACTTCCTATTACTCACTCGTCAGTGTGGCCGAACACATTTTTCACTTGACCTCAGGCTGGTGAACGCTCCCCTCTGGGGTTCAGGCCTCACGATGCCATCCTTTTGTGAAGTGAGGACCTGCAATCCCAGCTTCGTAAAGCCCGCTGGAAATCACTCACACTTCTGGGATGCCTTCAGAGCAGCCCTCTATCCCTTCAGCTCCCCTGGGATGTGACTCAACCTCCCGTCACTCCCCAGACTGCCTCTGCCAAGTCCGAAAGTGGAGGCATCCTTGCGAGCAAGTAGGCGGGTCCAGGGTGGCGCATGTCACTCATCGAAAGTGGAGGCGTCCTTGCGAGCAAGCAGGCGGGTCCAGGGTGGCGTGTCACTCATCCTTTTTTCTGGCTACCAAAGGTGCAGATAATTAATAAGAAGCTGGATCTTAGCAACGTCCAGTCCAAGTGTGGCTCAAAGGATAATATCAAACACGTCCCGGGAGGCGGCAGTGTGAGTACCTTCACACGTCCCATGCGCCGTGCTGTGGCTTGAATTATTAGGAAGTGGTGTGAGTGCGTACACTTGCGAGACACTGCATAGAATAAATCCTTCTTGGGCTCTCAGGATCTGGCTGCGACCTCTGGGTGAATGTAGCCCGGCTCCCCACATTCCCCCACACGGTCCACTGTTCCCAGAAGCCCCTTCCTCATATTCTAGGAGGGGGTGTCCCAGCATTTCTGGGTCCCCCAGCCTGCGCAGGCTGTGTGGACAGAATAGGGCAGATGACGGACCCTCTCTCCGGACCCTGCCTGGGAAGCTGAGAATACCCATCAAAGTCTCCTTCCACTCATGCCCAGCCCTGTCCCCAGGAGCCCCATAGCCCATTGGAAGTTGGGCTGAAGGTGGTGGCACCTGAGACTGGGCTGCCGCCTCCTCCCCCGACACCTGGGCAGGTTGACGTTGAGTGGCTCCACTGTGGACAGGTGACCCGTTTGTTCTGATGAGCGGACACCAAGGTCTTACTGTCCTGCTCAGCTGCTGCTCCTACACGTTCAAGGCAGGAGCCGATTCCTAAGCCTCCAGCTTATGCTTAGCCTGCGCCACCCTCTGGCAGAGACTCCAGATGCAAAGAGCCAAACCAAAGTGCGACAGGTCCCTCTGCCCAGCGTTGAGGTGTGGCAGAGAAATGCTGCTTTTGGCCCTTTTAGATTTGGCTGCCTCTTGCCAGGAGTGGTGGCTCGTGCCTGTAATTCCAGCACTTTGGGAGACTAAGGCGGGAGGTTCGCTTGAGCCCAGGAGTTCAAGACCAGCCTGGGCAACAATGAGACCCCTGTGTCTACAAAAAGAATTAAAATTAGCCAGGTGTGGTGGCACGCACCTGTAGTCCCAGCTACTTGGGAGGCTGAGGTGGGAGGATTGCCTGAGTCCGGGAGGCGGAAGTTGCAAGGAGCCATGATCGCGCCACTGCACTTCAACCTAGGCAACAGAGTGAGACTTTGTCTCAAAAAACAATCATATAATAATTTTAAAATAAATAGATTTGGCTTCCTCTAAATGTCCCCGGGGACTCCGTGCATCTTCTGTGGAGTGTCTCCGTGAGATTCGGGACTCAGATCCTCAAGTGCAACTGACCCACCCGATAAGCTGAGGCTTCATCATCCCCTGGCCGGTCTATGTCGACTGGGCACCCGAGGCTCCTCTCCCACCAGCTCTCTTGGTCAGCTGAAAGCAAACTGTTAACACCCTGGGGAGCTGGACGTATGAGACCCTTGGGGTGGGAGGCGTTGATTTTTGAGAGCAATCACCTGGCCCTGGCTGGCAGTACCGGGACACTGCTGTGGCTCCGGGGTGGGCTGTCTCCAGAAAATGCCTGGCCTGAGGCAGCCACCCGCATCCAGCCCAGAGGGTTTATTCTTGCAATGTGCTGCTGCTTCCTGCCCTGAGCACCTGGATCCCGGCTTCTGCCCTGAGGCCCCTTGAGTCCCACAGGTAGCAAGCGCTTGCCCTGCGGCTGCTGCATGGGGCTAACTAACGCTTCCTCACCAGTGTCTGCTAAGTGTCTCCTCTGTCTCCCACGCCCTGCTCTCCTGTCCCCCCAGTTTGTCTGCTGTGAGGGGACAGAAGAGGTGTGTGCCGCCCCCACCCCTGCCCGGGCCCTTGTTCCTGGGATTGCTGTTTTCAGCTGTTTGAGCTTTGATCCTGGTTCTCTGGCTTCCTCAAAGTGAGCTCGGCCAGAGGAGGAAGGCCATGTGCTTTCTGGTTGAAGTCAAGTCTGGTGCCCTGGTGGAGGCTGTGCTGCTGAGGCGGAGCTGGGGAGAGAGTGCACACGGGCTGCGTGGCCAACCCCTCTGGGTAGCTGATGCCCAAAGACGCTGCAGTGCCCAGGACATCTGGGACCTCCCTGGGGCCCGCCCGTGTGTCCCGCGCTGTGTTCATCTGCGGGCTAGCCTGTGACCCGCGCTGTGCTCGTCTGCGGGCT
GACGGGGTTTCACCACGTTGGCCAGGCTGCTCTTGAACTCCTGACGTCAGGTGATCCACCAGCCTTGACCTCCCAAAGTGCTAGGATTACAGGAGCCACTGTACCCAGCCTAGGATATGATATCACTTCTTAGAGCAAGATACAAAATTGCATGTGCACAATAATTCTACCAAGTATAGGTATACAGGGGTAGTTATATATAAATGAGACTTCAAGGAAATACAACAAAATGCAATCGTGATTGTGTTAGGGTGGTAAGAAAACGGTTTTTGCTTTGATGAGCTCTGTTTTTTAAAATCGTTATATTTTCTAATAAAAATACATAGTCTTTTGAAGGAACATAAAAGATTATGAAGAAATGAGTTAGATATTGATTCCTATTGAAGATTCAGACAAGTAAAATTAAGGGGAAAAAAAACGGGATGAACCAGAAGTCAGGCTGGAGTTCCAACCCCAGATCCGACAGCCCAGGCTGATGGGGCCTCCAGGGCAGTGGTTTCCACCCAGCATTCTCAAAAGAGCCACTGAGGTCTCAGTGCCATTTTCAAGATTTCGGAAGCGGCCTGGGCACGGCTGGTCCTTCACTGGGATCACCACTTGGCAATTATTTACACCTGAGACGAATAAAAACCAGAGTGCTGAGATTACAGGCATGGTGGCTTACGCTTGTAATCGGCTTTGGGAAGCCGAGGTGGGCTGATTGCTTGAGCCCAGGAGTTTCAAACTATCCTGGACAACATAGCATGACCTCGTCTCTACAAAAAATACAAAAAATTTGCCAGGTGTGGTGGCATGTGCCTGTGGTCCCAGCTACTTGGGAGGCTGAAGTAGGAGAATCCCCTGAGCCCTGGGAAGTCGAGGCTGCACTGAGCCGTGATGGTGTCACTGCACTCCAGCCTGGGTGACAAAGTGAGACCCTATCTCACAAAGAAAAAAAACAAAACAAAAAACCCAAAGCACACTGTTTCCACTGTTTCCAGAGTTCCTGAGAGGAAAGGTCACCGGGTGAGGAAGACGTTCTCACTGATCTGGCAGAGAAAATGTCCAGTTTTTCCAACTCCCTAAACCATGGTTTTCTATTTCATAGTTCTTAGGCAAATTGGTAAAAATCATTTCTCATCAAAACGCTGATATTTTCACACCTCCCTGGTGTCTGCAGAAAGAACCTTCCAGAAATGCAGTCGTGGGAGACCCATCCAGGCCACCCCTGCTTATGGAAGAGCTGAGAAAAAGCCCCACGGGAGCATTTGCTCAGCTTCCGTTACGCACCTAGTGGCATTGTGGGTGGGAGAGGGCTGGTGGGTGGATGGAAGGAGAAGGCACAGCCCCCCCTTGCAGGGACAGAGCCCTCGTACAGAAGGGACACCCCACATTTGTCTTCCCCACAAAGCGGCCTGTGTCCTGCCTACGGGGTCAGGGCTTCTCAAACCTGGCTGTGTGTCAGAATCACCAGGGGAACTTTTCAAAACTAGAGAGACTGAAGCCAGACTCCTAGATTCTAATTCTAGGTCAGGGCTAGGGGCTGAGATTGTAAAAATCCACAGGTGATTCTGATGCCCGGCAGGCTTGAGAACAGCCGCAGGGAGTTCTCTGGGAATGTGCCGGTGGGTCTAGCCAGGTGTGAGTGGAGATGCCGGGGAACTTCCTATTACTCACTCGTCAGTGTGGCCGAACACATTTTTCACTTGACCTCAGGCTGGTGAACGCTCCCCTCTGGGGTTCAGGCCTCACGATGCCATCCTTTTGTGAAGTGAGGACCTGCAATCCCAGCTTCGTAAAGCCCGCTGGAAATCACTCACACTTCTGGGATGCCTTCAGAGCAGCCCTCTATCCCTTCAGCTCCCCTGGGATGTGACTCAACCTCCCGTCACTCCCCAGACTGCCTCTGCCAAGTCCGAAAGTGGAGGCATCCTTGCGAGCAAGTAGGCGGGTCCAGGGTGGCGCATGTCACTCATCGAAAGTGGAGGCGTCCTTGCGAGCAAGCAGGCGGGTCCAGGGTGGCGTGTCACTCATCCTTTTTTCTGGCTACCAAAGGTGCAGATAATTAAGAAGAAGCTGGATCTTAGCAACGTCCAGTCCAAGTGTGGCTCAAAGGATAATATCAAACACGTCCCGGGAGGCGGCAGTGTGAGTACCTTCACACGTCCCATGCGCCGTGCTGTGGCTTGAATTATTAGGAAGTGGTGTGAGTGCGTACACTTGCGAGACACTGCATAGAATAAATCCTTCTTGGGCTCTCAGGATCTGGCTGCGACCTCTGGGTGAATGTAGCCCGGCTCCCCACATTCCCCCACACGGTCCACTGTTCCCAGAAGCCCCTTCCTCATATTCTAGGAGGGGGTGTCCCAGCATTTCTGGGTCCCCCAGCCTGCGCAGGCTGTGTGGACAGAATAGGGCAGATGACGGACCCTCTCTCCGGACCCTGCCTGGGAAGCTGAGAATACCCATCAAAGTCTCCTTCCACTCATGCCCAGCCCTGTCCCCAGGAGCCCCATAGCCCATTGGAAGTTGGGCTGAAGGTGGTGGCACCTGAGACTGGGCTGCCGCCTCCTCCCCCGACACCTGGGCAGGTTGACGTTGAGTGGCTCCACTGTGGACAGGTGACCCGTTTGTTCTGATGAGCGGACACCAAGGTCTTACTGTCCTGCTCAGCTGCTGCTCCTACACGTTCAAGGCAGGAGCCGATTCCTAAGCCTCCAGCTTATGCTTAGCCTGCGCCACCCTCTGGCAGAGACTCCAGATGCAAAGAGCCAAACCAAAGTGCGACAGGTCCCTCTGCCCAGCGTTGAGGTGTGGCAGAGAAATGCTGCTTTTGGCCCTTTTAGATTTGGCTGCCTCTTGCCAGGAGTGGTGGCTCGTGCCTGTAATTCCAGCACTTTGGGAGACTAAGGCGGGAGGTTCGCTTGAGCCCAGGAGTTCAAGACCAGCCTGGGCAACAATGAGACCCCTGTGTCTACAAAAAGAATTAAAATTAGCCAGGTGTGGTGGCACGCACCTGTAGTCCCAGCTACTTGGGAGGCTGAGGTGGGAGGATTGCCTGAGTCCGGGAGGCGGAAGTTGCAAGGAGCCATGATCGCGCCACTGCACTTCAACCTAGGCAACAGAGTGAGACTTTGTCTCAAAAAACAATCATATAATAATTTTAAAATAAATAGATTTGGCTTCCTCTAAATGTCCCCGGGGACTCCGTGCATCTTCTGTGGAGTGTCTCCGTGAGATTCGGGACTCAGATCCTCAAGTGCAACTGACCCACCCGATAAGCTGAGGCTTCATCATCCCCTGGCCGGTCTATGTCGACTGGGCACCCGAGGCTCCTCTCCCACCAGCTCTCTTGGTCAGCTGAAAGCAAACTGTTAACACCCTGGGGAGCTGGACGTATGAGACCCTTGGGGTGGGAGGCGTTGATTTTTGAGAGCAATCACCTGGCCCTGGCTGGCAGTACCGGGACACTGCTGTGGCTCCGGGGTGGGCTGTCTCCAGAAAATGCCTGGCCTGAGGCAGCCACCCGCATCCAGCCCAGAGGGTTTATTCTTGCAATGTGCTGCTGCTTCCTGCCCTGAGCACCTGGATCCCGGCTTCTGCCCTGAGGCCCCTTGAGTCCCACAGGTAGCAAGCGCTTGCCCTGCGGCTGCTGCATGGGGCTAACTAACGCTTCCTCACCAGTGTCTGCTAAGTGTCTCCTCTGTCTCCCACGCCCTGCTCTCCTGTCCCCCCAGTTTGTCTGCTGTGAGGGGACAGAAGAGGTGTGTGCCGCCCCCACCCCTGCCCGGGCCCTTGTTCCTGGGATTGCTGTTTTCAGCTGTTTGAGCTTTGATCCTGGTTCTCTGGCTTCCTCAAAGTGAGCTCGGCCAGAGGAGGAAGGCCATGTGCTTTCTGGTTGAAGTCAAGTCTGGTGCCCTGGTGGAGGCTGTGCTGCTGAGGCGGAGCTGGGGAGAGAGTGCACACGGGCTGCGTGGCCAACCCCTCTGGGTAGCTGATGCCCAAAGACGCTGCAGTGCCCAGGACATCTGGGACCTCCCTGGGGCCCGCCCGTGTGTCCCGCGCTGTGTTCATCTGCGGGCTAGCCTGTGACCCGCGCTGTGCTCGTCTGCGGGCT
Task1_train_24797
A mutation in MAPT (microtubule associated protein tau), located on Chromosome 17, is being studied. Determine whether it’s pathogenic or benign, and specify the linked disease.
Pathogenic; Pick disease
GACGGGGTTTCACCACGTTGGCCAGGCTGCTCTTGAACTCCTGACGTCAGGTGATCCACCAGCCTTGACCTCCCAAAGTGCTAGGATTACAGGAGCCACTGTACCCAGCCTAGGATATGATATCACTTCTTAGAGCAAGATACAAAATTGCATGTGCACAATAATTCTACCAAGTATAGGTATACAGGGGTAGTTATATATAAATGAGACTTCAAGGAAATACAACAAAATGCAATCGTGATTGTGTTAGGGTGGTAAGAAAACGGTTTTTGCTTTGATGAGCTCTGTTTTTTAAAATCGTTATATTTTCTAATAAAAATACATAGTCTTTTGAAGGAACATAAAAGATTATGAAGAAATGAGTTAGATATTGATTCCTATTGAAGATTCAGACAAGTAAAATTAAGGGGAAAAAAAACGGGATGAACCAGAAGTCAGGCTGGAGTTCCAACCCCAGATCCGACAGCCCAGGCTGATGGGGCCTCCAGGGCAGTGGTTTCCACCCAGCATTCTCAAAAGAGCCACTGAGGTCTCAGTGCCATTTTCAAGATTTCGGAAGCGGCCTGGGCACGGCTGGTCCTTCACTGGGATCACCACTTGGCAATTATTTACACCTGAGACGAATAAAAACCAGAGTGCTGAGATTACAGGCATGGTGGCTTACGCTTGTAATCGGCTTTGGGAAGCCGAGGTGGGCTGATTGCTTGAGCCCAGGAGTTTCAAACTATCCTGGACAACATAGCATGACCTCGTCTCTACAAAAAATACAAAAAATTTGCCAGGTGTGGTGGCATGTGCCTGTGGTCCCAGCTACTTGGGAGGCTGAAGTAGGAGAATCCCCTGAGCCCTGGGAAGTCGAGGCTGCACTGAGCCGTGATGGTGTCACTGCACTCCAGCCTGGGTGACAAAGTGAGACCCTATCTCACAAAGAAAAAAAACAAAACAAAAAACCCAAAGCACACTGTTTCCACTGTTTCCAGAGTTCCTGAGAGGAAAGGTCACCGGGTGAGGAAGACGTTCTCACTGATCTGGCAGAGAAAATGTCCAGTTTTTCCAACTCCCTAAACCATGGTTTTCTATTTCATAGTTCTTAGGCAAATTGGTAAAAATCATTTCTCATCAAAACGCTGATATTTTCACACCTCCCTGGTGTCTGCAGAAAGAACCTTCCAGAAATGCAGTCGTGGGAGACCCATCCAGGCCACCCCTGCTTATGGAAGAGCTGAGAAAAAGCCCCACGGGAGCATTTGCTCAGCTTCCGTTACGCACCTAGTGGCATTGTGGGTGGGAGAGGGCTGGTGGGTGGATGGAAGGAGAAGGCACAGCCCCCCCTTGCAGGGACAGAGCCCTCGTACAGAAGGGACACCCCACATTTGTCTTCCCCACAAAGCGGCCTGTGTCCTGCCTACGGGGTCAGGGCTTCTCAAACCTGGCTGTGTGTCAGAATCACCAGGGGAACTTTTCAAAACTAGAGAGACTGAAGCCAGACTCCTAGATTCTAATTCTAGGTCAGGGCTAGGGGCTGAGATTGTAAAAATCCACAGGTGATTCTGATGCCCGGCAGGCTTGAGAACAGCCGCAGGGAGTTCTCTGGGAATGTGCCGGTGGGTCTAGCCAGGTGTGAGTGGAGATGCCGGGGAACTTCCTATTACTCACTCGTCAGTGTGGCCGAACACATTTTTCACTTGACCTCAGGCTGGTGAACGCTCCCCTCTGGGGTTCAGGCCTCACGATGCCATCCTTTTGTGAAGTGAGGACCTGCAATCCCAGCTTCGTAAAGCCCGCTGGAAATCACTCACACTTCTGGGATGCCTTCAGAGCAGCCCTCTATCCCTTCAGCTCCCCTGGGATGTGACTCAACCTCCCGTCACTCCCCAGACTGCCTCTGCCAAGTCCGAAAGTGGAGGCATCCTTGCGAGCAAGTAGGCGGGTCCAGGGTGGCGCATGTCACTCATCGAAAGTGGAGGCGTCCTTGCGAGCAAGCAGGCGGGTCCAGGGTGGCGTGTCACTCATCCTTTTTTCTGGCTACCAAAGGTGCAGATAATTAATAAGAAGCTGGATCTTAGCAACGTCCAGTCCAAGTGTGGCTCAAAGGATAATATCAAACACGTCCCGGGAGGCGGCAGTGTGAGTACCTTCACACGTCCCATGCGCCGTGCTGTGGCTTGAATTATTAGGAAGTGGTGTGAGTGCGTACACTTGCGAGACACTGCATAGAATAAATCCTTCTTGGGCTCTCAGGATCTGGCTGCGACCTCTGGGTGAATGTAGCCCGGCTCCCCACATTCCCCCACACGGTCCACTGTTCCCAGAAGCCCCTTCCTCATATTCTAGGAGGGGGTGTCCCAGCATTTCTGGGTCCCCCAGCCTGCGCAGGCTGTGTGGACAGAATAGGGCAGATGACGGACCCTCTCTCCGGACCCTGCCTGGGAAGCTGAGAATACCCATCAAAGTCTCCTTCCACTCATGCCCAGCCCTGTCCCCAGGAGCCCCATAGCCCATTGGAAGTTGGGCTGAAGGTGGTGGCACCTGAGACTGGGCTGCCGCCTCCTCCCCCGACACCTGGGCAGGTTGACGTTGAGTGGCTCCACTGTGGACAGGTGACCCGTTTGTTCTGATGAGCGGACACCAAGGTCTTACTGTCCTGCTCAGCTGCTGCTCCTACACGTTCAAGGCAGGAGCCGATTCCTAAGCCTCCAGCTTATGCTTAGCCTGCGCCACCCTCTGGCAGAGACTCCAGATGCAAAGAGCCAAACCAAAGTGCGACAGGTCCCTCTGCCCAGCGTTGAGGTGTGGCAGAGAAATGCTGCTTTTGGCCCTTTTAGATTTGGCTGCCTCTTGCCAGGAGTGGTGGCTCGTGCCTGTAATTCCAGCACTTTGGGAGACTAAGGCGGGAGGTTCGCTTGAGCCCAGGAGTTCAAGACCAGCCTGGGCAACAATGAGACCCCTGTGTCTACAAAAAGAATTAAAATTAGCCAGGTGTGGTGGCACGCACCTGTAGTCCCAGCTACTTGGGAGGCTGAGGTGGGAGGATTGCCTGAGTCCGGGAGGCGGAAGTTGCAAGGAGCCATGATCGCGCCACTGCACTTCAACCTAGGCAACAGAGTGAGACTTTGTCTCAAAAAACAATCATATAATAATTTTAAAATAAATAGATTTGGCTTCCTCTAAATGTCCCCGGGGACTCCGTGCATCTTCTGTGGAGTGTCTCCGTGAGATTCGGGACTCAGATCCTCAAGTGCAACTGACCCACCCGATAAGCTGAGGCTTCATCATCCCCTGGCCGGTCTATGTCGACTGGGCACCCGAGGCTCCTCTCCCACCAGCTCTCTTGGTCAGCTGAAAGCAAACTGTTAACACCCTGGGGAGCTGGACGTATGAGACCCTTGGGGTGGGAGGCGTTGATTTTTGAGAGCAATCACCTGGCCCTGGCTGGCAGTACCGGGACACTGCTGTGGCTCCGGGGTGGGCTGTCTCCAGAAAATGCCTGGCCTGAGGCAGCCACCCGCATCCAGCCCAGAGGGTTTATTCTTGCAATGTGCTGCTGCTTCCTGCCCTGAGCACCTGGATCCCGGCTTCTGCCCTGAGGCCCCTTGAGTCCCACAGGTAGCAAGCGCTTGCCCTGCGGCTGCTGCATGGGGCTAACTAACGCTTCCTCACCAGTGTCTGCTAAGTGTCTCCTCTGTCTCCCACGCCCTGCTCTCCTGTCCCCCCAGTTTGTCTGCTGTGAGGGGACAGAAGAGGTGTGTGCCGCCCCCACCCCTGCCCGGGCCCTTGTTCCTGGGATTGCTGTTTTCAGCTGTTTGAGCTTTGATCCTGGTTCTCTGGCTTCCTCAAAGTGAGCTCGGCCAGAGGAGGAAGGCCATGTGCTTTCTGGTTGAAGTCAAGTCTGGTGCCCTGGTGGAGGCTGTGCTGCTGAGGCGGAGCTGGGGAGAGAGTGCACACGGGCTGCGTGGCCAACCCCTCTGGGTAGCTGATGCCCAAAGACGCTGCAGTGCCCAGGACATCTGGGACCTCCCTGGGGCCCGCCCGTGTGTCCCGCGCTGTGTTCATCTGCGGGCTAGCCTGTGACCCGCGCTGTGCTCGTCTGCGGGCT
GACGGGGTTTCACCACGTTGGCCAGGCTGCTCTTGAACTCCTGACGTCAGGTGATCCACCAGCCTTGACCTCCCAAAGTGCTAGGATTACAGGAGCCACTGTACCCAGCCTAGGATATGATATCACTTCTTAGAGCAAGATACAAAATTGCATGTGCACAATAATTCTACCAAGTATAGGTATACAGGGGTAGTTATATATAAATGAGACTTCAAGGAAATACAACAAAATGCAATCGTGATTGTGTTAGGGTGGTAAGAAAACGGTTTTTGCTTTGATGAGCTCTGTTTTTTAAAATCGTTATATTTTCTAATAAAAATACATAGTCTTTTGAAGGAACATAAAAGATTATGAAGAAATGAGTTAGATATTGATTCCTATTGAAGATTCAGACAAGTAAAATTAAGGGGAAAAAAAACGGGATGAACCAGAAGTCAGGCTGGAGTTCCAACCCCAGATCCGACAGCCCAGGCTGATGGGGCCTCCAGGGCAGTGGTTTCCACCCAGCATTCTCAAAAGAGCCACTGAGGTCTCAGTGCCATTTTCAAGATTTCGGAAGCGGCCTGGGCACGGCTGGTCCTTCACTGGGATCACCACTTGGCAATTATTTACACCTGAGACGAATAAAAACCAGAGTGCTGAGATTACAGGCATGGTGGCTTACGCTTGTAATCGGCTTTGGGAAGCCGAGGTGGGCTGATTGCTTGAGCCCAGGAGTTTCAAACTATCCTGGACAACATAGCATGACCTCGTCTCTACAAAAAATACAAAAAATTTGCCAGGTGTGGTGGCATGTGCCTGTGGTCCCAGCTACTTGGGAGGCTGAAGTAGGAGAATCCCCTGAGCCCTGGGAAGTCGAGGCTGCACTGAGCCGTGATGGTGTCACTGCACTCCAGCCTGGGTGACAAAGTGAGACCCTATCTCACAAAGAAAAAAAACAAAACAAAAAACCCAAAGCACACTGTTTCCACTGTTTCCAGAGTTCCTGAGAGGAAAGGTCACCGGGTGAGGAAGACGTTCTCACTGATCTGGCAGAGAAAATGTCCAGTTTTTCCAACTCCCTAAACCATGGTTTTCTATTTCATAGTTCTTAGGCAAATTGGTAAAAATCATTTCTCATCAAAACGCTGATATTTTCACACCTCCCTGGTGTCTGCAGAAAGAACCTTCCAGAAATGCAGTCGTGGGAGACCCATCCAGGCCACCCCTGCTTATGGAAGAGCTGAGAAAAAGCCCCACGGGAGCATTTGCTCAGCTTCCGTTACGCACCTAGTGGCATTGTGGGTGGGAGAGGGCTGGTGGGTGGATGGAAGGAGAAGGCACAGCCCCCCCTTGCAGGGACAGAGCCCTCGTACAGAAGGGACACCCCACATTTGTCTTCCCCACAAAGCGGCCTGTGTCCTGCCTACGGGGTCAGGGCTTCTCAAACCTGGCTGTGTGTCAGAATCACCAGGGGAACTTTTCAAAACTAGAGAGACTGAAGCCAGACTCCTAGATTCTAATTCTAGGTCAGGGCTAGGGGCTGAGATTGTAAAAATCCACAGGTGATTCTGATGCCCGGCAGGCTTGAGAACAGCCGCAGGGAGTTCTCTGGGAATGTGCCGGTGGGTCTAGCCAGGTGTGAGTGGAGATGCCGGGGAACTTCCTATTACTCACTCGTCAGTGTGGCCGAACACATTTTTCACTTGACCTCAGGCTGGTGAACGCTCCCCTCTGGGGTTCAGGCCTCACGATGCCATCCTTTTGTGAAGTGAGGACCTGCAATCCCAGCTTCGTAAAGCCCGCTGGAAATCACTCACACTTCTGGGATGCCTTCAGAGCAGCCCTCTATCCCTTCAGCTCCCCTGGGATGTGACTCAACCTCCCGTCACTCCCCAGACTGCCTCTGCCAAGTCCGAAAGTGGAGGCATCCTTGCGAGCAAGTAGGCGGGTCCAGGGTGGCGCATGTCACTCATCGAAAGTGGAGGCGTCCTTGCGAGCAAGCAGGCGGGTCCAGGGTGGCGTGTCACTCATCCTTTTTTCTGGCTACCAAAGGTGCAGATAATTAAGAAGAAGCTGGATCTTAGCAACGTCCAGTCCAAGTGTGGCTCAAAGGATAATATCAAACACGTCCCGGGAGGCGGCAGTGTGAGTACCTTCACACGTCCCATGCGCCGTGCTGTGGCTTGAATTATTAGGAAGTGGTGTGAGTGCGTACACTTGCGAGACACTGCATAGAATAAATCCTTCTTGGGCTCTCAGGATCTGGCTGCGACCTCTGGGTGAATGTAGCCCGGCTCCCCACATTCCCCCACACGGTCCACTGTTCCCAGAAGCCCCTTCCTCATATTCTAGGAGGGGGTGTCCCAGCATTTCTGGGTCCCCCAGCCTGCGCAGGCTGTGTGGACAGAATAGGGCAGATGACGGACCCTCTCTCCGGACCCTGCCTGGGAAGCTGAGAATACCCATCAAAGTCTCCTTCCACTCATGCCCAGCCCTGTCCCCAGGAGCCCCATAGCCCATTGGAAGTTGGGCTGAAGGTGGTGGCACCTGAGACTGGGCTGCCGCCTCCTCCCCCGACACCTGGGCAGGTTGACGTTGAGTGGCTCCACTGTGGACAGGTGACCCGTTTGTTCTGATGAGCGGACACCAAGGTCTTACTGTCCTGCTCAGCTGCTGCTCCTACACGTTCAAGGCAGGAGCCGATTCCTAAGCCTCCAGCTTATGCTTAGCCTGCGCCACCCTCTGGCAGAGACTCCAGATGCAAAGAGCCAAACCAAAGTGCGACAGGTCCCTCTGCCCAGCGTTGAGGTGTGGCAGAGAAATGCTGCTTTTGGCCCTTTTAGATTTGGCTGCCTCTTGCCAGGAGTGGTGGCTCGTGCCTGTAATTCCAGCACTTTGGGAGACTAAGGCGGGAGGTTCGCTTGAGCCCAGGAGTTCAAGACCAGCCTGGGCAACAATGAGACCCCTGTGTCTACAAAAAGAATTAAAATTAGCCAGGTGTGGTGGCACGCACCTGTAGTCCCAGCTACTTGGGAGGCTGAGGTGGGAGGATTGCCTGAGTCCGGGAGGCGGAAGTTGCAAGGAGCCATGATCGCGCCACTGCACTTCAACCTAGGCAACAGAGTGAGACTTTGTCTCAAAAAACAATCATATAATAATTTTAAAATAAATAGATTTGGCTTCCTCTAAATGTCCCCGGGGACTCCGTGCATCTTCTGTGGAGTGTCTCCGTGAGATTCGGGACTCAGATCCTCAAGTGCAACTGACCCACCCGATAAGCTGAGGCTTCATCATCCCCTGGCCGGTCTATGTCGACTGGGCACCCGAGGCTCCTCTCCCACCAGCTCTCTTGGTCAGCTGAAAGCAAACTGTTAACACCCTGGGGAGCTGGACGTATGAGACCCTTGGGGTGGGAGGCGTTGATTTTTGAGAGCAATCACCTGGCCCTGGCTGGCAGTACCGGGACACTGCTGTGGCTCCGGGGTGGGCTGTCTCCAGAAAATGCCTGGCCTGAGGCAGCCACCCGCATCCAGCCCAGAGGGTTTATTCTTGCAATGTGCTGCTGCTTCCTGCCCTGAGCACCTGGATCCCGGCTTCTGCCCTGAGGCCCCTTGAGTCCCACAGGTAGCAAGCGCTTGCCCTGCGGCTGCTGCATGGGGCTAACTAACGCTTCCTCACCAGTGTCTGCTAAGTGTCTCCTCTGTCTCCCACGCCCTGCTCTCCTGTCCCCCCAGTTTGTCTGCTGTGAGGGGACAGAAGAGGTGTGTGCCGCCCCCACCCCTGCCCGGGCCCTTGTTCCTGGGATTGCTGTTTTCAGCTGTTTGAGCTTTGATCCTGGTTCTCTGGCTTCCTCAAAGTGAGCTCGGCCAGAGGAGGAAGGCCATGTGCTTTCTGGTTGAAGTCAAGTCTGGTGCCCTGGTGGAGGCTGTGCTGCTGAGGCGGAGCTGGGGAGAGAGTGCACACGGGCTGCGTGGCCAACCCCTCTGGGTAGCTGATGCCCAAAGACGCTGCAGTGCCCAGGACATCTGGGACCTCCCTGGGGCCCGCCCGTGTGTCCCGCGCTGTGTTCATCTGCGGGCTAGCCTGTGACCCGCGCTGTGCTCGTCTGCGGGCT
Task1_train_24798
Consider this mutation in MAPT (microtubule associated protein tau) on Chromosome 17. Is this a benign change or a disease-causing variant?
Pathogenic; Frontotemporal dementia
GACGGGGTTTCACCACGTTGGCCAGGCTGCTCTTGAACTCCTGACGTCAGGTGATCCACCAGCCTTGACCTCCCAAAGTGCTAGGATTACAGGAGCCACTGTACCCAGCCTAGGATATGATATCACTTCTTAGAGCAAGATACAAAATTGCATGTGCACAATAATTCTACCAAGTATAGGTATACAGGGGTAGTTATATATAAATGAGACTTCAAGGAAATACAACAAAATGCAATCGTGATTGTGTTAGGGTGGTAAGAAAACGGTTTTTGCTTTGATGAGCTCTGTTTTTTAAAATCGTTATATTTTCTAATAAAAATACATAGTCTTTTGAAGGAACATAAAAGATTATGAAGAAATGAGTTAGATATTGATTCCTATTGAAGATTCAGACAAGTAAAATTAAGGGGAAAAAAAACGGGATGAACCAGAAGTCAGGCTGGAGTTCCAACCCCAGATCCGACAGCCCAGGCTGATGGGGCCTCCAGGGCAGTGGTTTCCACCCAGCATTCTCAAAAGAGCCACTGAGGTCTCAGTGCCATTTTCAAGATTTCGGAAGCGGCCTGGGCACGGCTGGTCCTTCACTGGGATCACCACTTGGCAATTATTTACACCTGAGACGAATAAAAACCAGAGTGCTGAGATTACAGGCATGGTGGCTTACGCTTGTAATCGGCTTTGGGAAGCCGAGGTGGGCTGATTGCTTGAGCCCAGGAGTTTCAAACTATCCTGGACAACATAGCATGACCTCGTCTCTACAAAAAATACAAAAAATTTGCCAGGTGTGGTGGCATGTGCCTGTGGTCCCAGCTACTTGGGAGGCTGAAGTAGGAGAATCCCCTGAGCCCTGGGAAGTCGAGGCTGCACTGAGCCGTGATGGTGTCACTGCACTCCAGCCTGGGTGACAAAGTGAGACCCTATCTCACAAAGAAAAAAAACAAAACAAAAAACCCAAAGCACACTGTTTCCACTGTTTCCAGAGTTCCTGAGAGGAAAGGTCACCGGGTGAGGAAGACGTTCTCACTGATCTGGCAGAGAAAATGTCCAGTTTTTCCAACTCCCTAAACCATGGTTTTCTATTTCATAGTTCTTAGGCAAATTGGTAAAAATCATTTCTCATCAAAACGCTGATATTTTCACACCTCCCTGGTGTCTGCAGAAAGAACCTTCCAGAAATGCAGTCGTGGGAGACCCATCCAGGCCACCCCTGCTTATGGAAGAGCTGAGAAAAAGCCCCACGGGAGCATTTGCTCAGCTTCCGTTACGCACCTAGTGGCATTGTGGGTGGGAGAGGGCTGGTGGGTGGATGGAAGGAGAAGGCACAGCCCCCCCTTGCAGGGACAGAGCCCTCGTACAGAAGGGACACCCCACATTTGTCTTCCCCACAAAGCGGCCTGTGTCCTGCCTACGGGGTCAGGGCTTCTCAAACCTGGCTGTGTGTCAGAATCACCAGGGGAACTTTTCAAAACTAGAGAGACTGAAGCCAGACTCCTAGATTCTAATTCTAGGTCAGGGCTAGGGGCTGAGATTGTAAAAATCCACAGGTGATTCTGATGCCCGGCAGGCTTGAGAACAGCCGCAGGGAGTTCTCTGGGAATGTGCCGGTGGGTCTAGCCAGGTGTGAGTGGAGATGCCGGGGAACTTCCTATTACTCACTCGTCAGTGTGGCCGAACACATTTTTCACTTGACCTCAGGCTGGTGAACGCTCCCCTCTGGGGTTCAGGCCTCACGATGCCATCCTTTTGTGAAGTGAGGACCTGCAATCCCAGCTTCGTAAAGCCCGCTGGAAATCACTCACACTTCTGGGATGCCTTCAGAGCAGCCCTCTATCCCTTCAGCTCCCCTGGGATGTGACTCAACCTCCCGTCACTCCCCAGACTGCCTCTGCCAAGTCCGAAAGTGGAGGCATCCTTGCGAGCAAGTAGGCGGGTCCAGGGTGGCGCATGTCACTCATCGAAAGTGGAGGCGTCCTTGCGAGCAAGCAGGCGGGTCCAGGGTGGCGTGTCACTCATCCTTTTTTCTGGCTACCAAAGGTGCAGATAATTAATAAGAAGCTGGATCTTAGCAACGTCCAGTCCAAGTGTGGCTCAAAGGATAATATCAAACACGTCCCGGGAGGCGGCAGTGTGAGTACCTTCACACGTCCCATGCGCCGTGCTGTGGCTTGAATTATTAGGAAGTGGTGTGAGTGCGTACACTTGCGAGACACTGCATAGAATAAATCCTTCTTGGGCTCTCAGGATCTGGCTGCGACCTCTGGGTGAATGTAGCCCGGCTCCCCACATTCCCCCACACGGTCCACTGTTCCCAGAAGCCCCTTCCTCATATTCTAGGAGGGGGTGTCCCAGCATTTCTGGGTCCCCCAGCCTGCGCAGGCTGTGTGGACAGAATAGGGCAGATGACGGACCCTCTCTCCGGACCCTGCCTGGGAAGCTGAGAATACCCATCAAAGTCTCCTTCCACTCATGCCCAGCCCTGTCCCCAGGAGCCCCATAGCCCATTGGAAGTTGGGCTGAAGGTGGTGGCACCTGAGACTGGGCTGCCGCCTCCTCCCCCGACACCTGGGCAGGTTGACGTTGAGTGGCTCCACTGTGGACAGGTGACCCGTTTGTTCTGATGAGCGGACACCAAGGTCTTACTGTCCTGCTCAGCTGCTGCTCCTACACGTTCAAGGCAGGAGCCGATTCCTAAGCCTCCAGCTTATGCTTAGCCTGCGCCACCCTCTGGCAGAGACTCCAGATGCAAAGAGCCAAACCAAAGTGCGACAGGTCCCTCTGCCCAGCGTTGAGGTGTGGCAGAGAAATGCTGCTTTTGGCCCTTTTAGATTTGGCTGCCTCTTGCCAGGAGTGGTGGCTCGTGCCTGTAATTCCAGCACTTTGGGAGACTAAGGCGGGAGGTTCGCTTGAGCCCAGGAGTTCAAGACCAGCCTGGGCAACAATGAGACCCCTGTGTCTACAAAAAGAATTAAAATTAGCCAGGTGTGGTGGCACGCACCTGTAGTCCCAGCTACTTGGGAGGCTGAGGTGGGAGGATTGCCTGAGTCCGGGAGGCGGAAGTTGCAAGGAGCCATGATCGCGCCACTGCACTTCAACCTAGGCAACAGAGTGAGACTTTGTCTCAAAAAACAATCATATAATAATTTTAAAATAAATAGATTTGGCTTCCTCTAAATGTCCCCGGGGACTCCGTGCATCTTCTGTGGAGTGTCTCCGTGAGATTCGGGACTCAGATCCTCAAGTGCAACTGACCCACCCGATAAGCTGAGGCTTCATCATCCCCTGGCCGGTCTATGTCGACTGGGCACCCGAGGCTCCTCTCCCACCAGCTCTCTTGGTCAGCTGAAAGCAAACTGTTAACACCCTGGGGAGCTGGACGTATGAGACCCTTGGGGTGGGAGGCGTTGATTTTTGAGAGCAATCACCTGGCCCTGGCTGGCAGTACCGGGACACTGCTGTGGCTCCGGGGTGGGCTGTCTCCAGAAAATGCCTGGCCTGAGGCAGCCACCCGCATCCAGCCCAGAGGGTTTATTCTTGCAATGTGCTGCTGCTTCCTGCCCTGAGCACCTGGATCCCGGCTTCTGCCCTGAGGCCCCTTGAGTCCCACAGGTAGCAAGCGCTTGCCCTGCGGCTGCTGCATGGGGCTAACTAACGCTTCCTCACCAGTGTCTGCTAAGTGTCTCCTCTGTCTCCCACGCCCTGCTCTCCTGTCCCCCCAGTTTGTCTGCTGTGAGGGGACAGAAGAGGTGTGTGCCGCCCCCACCCCTGCCCGGGCCCTTGTTCCTGGGATTGCTGTTTTCAGCTGTTTGAGCTTTGATCCTGGTTCTCTGGCTTCCTCAAAGTGAGCTCGGCCAGAGGAGGAAGGCCATGTGCTTTCTGGTTGAAGTCAAGTCTGGTGCCCTGGTGGAGGCTGTGCTGCTGAGGCGGAGCTGGGGAGAGAGTGCACACGGGCTGCGTGGCCAACCCCTCTGGGTAGCTGATGCCCAAAGACGCTGCAGTGCCCAGGACATCTGGGACCTCCCTGGGGCCCGCCCGTGTGTCCCGCGCTGTGTTCATCTGCGGGCTAGCCTGTGACCCGCGCTGTGCTCGTCTGCGGGCT
GACGGGGTTTCACCACGTTGGCCAGGCTGCTCTTGAACTCCTGACGTCAGGTGATCCACCAGCCTTGACCTCCCAAAGTGCTAGGATTACAGGAGCCACTGTACCCAGCCTAGGATATGATATCACTTCTTAGAGCAAGATACAAAATTGCATGTGCACAATAATTCTACCAAGTATAGGTATACAGGGGTAGTTATATATAAATGAGACTTCAAGGAAATACAACAAAATGCAATCGTGATTGTGTTAGGGTGGTAAGAAAACGGTTTTTGCTTTGATGAGCTCTGTTTTTTAAAATCGTTATATTTTCTAATAAAAATACATAGTCTTTTGAAGGAACATAAAAGATTATGAAGAAATGAGTTAGATATTGATTCCTATTGAAGATTCAGACAAGTAAAATTAAGGGGAAAAAAAACGGGATGAACCAGAAGTCAGGCTGGAGTTCCAACCCCAGATCCGACAGCCCAGGCTGATGGGGCCTCCAGGGCAGTGGTTTCCACCCAGCATTCTCAAAAGAGCCACTGAGGTCTCAGTGCCATTTTCAAGATTTCGGAAGCGGCCTGGGCACGGCTGGTCCTTCACTGGGATCACCACTTGGCAATTATTTACACCTGAGACGAATAAAAACCAGAGTGCTGAGATTACAGGCATGGTGGCTTACGCTTGTAATCGGCTTTGGGAAGCCGAGGTGGGCTGATTGCTTGAGCCCAGGAGTTTCAAACTATCCTGGACAACATAGCATGACCTCGTCTCTACAAAAAATACAAAAAATTTGCCAGGTGTGGTGGCATGTGCCTGTGGTCCCAGCTACTTGGGAGGCTGAAGTAGGAGAATCCCCTGAGCCCTGGGAAGTCGAGGCTGCACTGAGCCGTGATGGTGTCACTGCACTCCAGCCTGGGTGACAAAGTGAGACCCTATCTCACAAAGAAAAAAAACAAAACAAAAAACCCAAAGCACACTGTTTCCACTGTTTCCAGAGTTCCTGAGAGGAAAGGTCACCGGGTGAGGAAGACGTTCTCACTGATCTGGCAGAGAAAATGTCCAGTTTTTCCAACTCCCTAAACCATGGTTTTCTATTTCATAGTTCTTAGGCAAATTGGTAAAAATCATTTCTCATCAAAACGCTGATATTTTCACACCTCCCTGGTGTCTGCAGAAAGAACCTTCCAGAAATGCAGTCGTGGGAGACCCATCCAGGCCACCCCTGCTTATGGAAGAGCTGAGAAAAAGCCCCACGGGAGCATTTGCTCAGCTTCCGTTACGCACCTAGTGGCATTGTGGGTGGGAGAGGGCTGGTGGGTGGATGGAAGGAGAAGGCACAGCCCCCCCTTGCAGGGACAGAGCCCTCGTACAGAAGGGACACCCCACATTTGTCTTCCCCACAAAGCGGCCTGTGTCCTGCCTACGGGGTCAGGGCTTCTCAAACCTGGCTGTGTGTCAGAATCACCAGGGGAACTTTTCAAAACTAGAGAGACTGAAGCCAGACTCCTAGATTCTAATTCTAGGTCAGGGCTAGGGGCTGAGATTGTAAAAATCCACAGGTGATTCTGATGCCCGGCAGGCTTGAGAACAGCCGCAGGGAGTTCTCTGGGAATGTGCCGGTGGGTCTAGCCAGGTGTGAGTGGAGATGCCGGGGAACTTCCTATTACTCACTCGTCAGTGTGGCCGAACACATTTTTCACTTGACCTCAGGCTGGTGAACGCTCCCCTCTGGGGTTCAGGCCTCACGATGCCATCCTTTTGTGAAGTGAGGACCTGCAATCCCAGCTTCGTAAAGCCCGCTGGAAATCACTCACACTTCTGGGATGCCTTCAGAGCAGCCCTCTATCCCTTCAGCTCCCCTGGGATGTGACTCAACCTCCCGTCACTCCCCAGACTGCCTCTGCCAAGTCCGAAAGTGGAGGCATCCTTGCGAGCAAGTAGGCGGGTCCAGGGTGGCGCATGTCACTCATCGAAAGTGGAGGCGTCCTTGCGAGCAAGCAGGCGGGTCCAGGGTGGCGTGTCACTCATCCTTTTTTCTGGCTACCAAAGGTGCAGATAATTAAGAAGAAGCTGGATCTTAGCAACGTCCAGTCCAAGTGTGGCTCAAAGGATAATATCAAACACGTCCCGGGAGGCGGCAGTGTGAGTACCTTCACACGTCCCATGCGCCGTGCTGTGGCTTGAATTATTAGGAAGTGGTGTGAGTGCGTACACTTGCGAGACACTGCATAGAATAAATCCTTCTTGGGCTCTCAGGATCTGGCTGCGACCTCTGGGTGAATGTAGCCCGGCTCCCCACATTCCCCCACACGGTCCACTGTTCCCAGAAGCCCCTTCCTCATATTCTAGGAGGGGGTGTCCCAGCATTTCTGGGTCCCCCAGCCTGCGCAGGCTGTGTGGACAGAATAGGGCAGATGACGGACCCTCTCTCCGGACCCTGCCTGGGAAGCTGAGAATACCCATCAAAGTCTCCTTCCACTCATGCCCAGCCCTGTCCCCAGGAGCCCCATAGCCCATTGGAAGTTGGGCTGAAGGTGGTGGCACCTGAGACTGGGCTGCCGCCTCCTCCCCCGACACCTGGGCAGGTTGACGTTGAGTGGCTCCACTGTGGACAGGTGACCCGTTTGTTCTGATGAGCGGACACCAAGGTCTTACTGTCCTGCTCAGCTGCTGCTCCTACACGTTCAAGGCAGGAGCCGATTCCTAAGCCTCCAGCTTATGCTTAGCCTGCGCCACCCTCTGGCAGAGACTCCAGATGCAAAGAGCCAAACCAAAGTGCGACAGGTCCCTCTGCCCAGCGTTGAGGTGTGGCAGAGAAATGCTGCTTTTGGCCCTTTTAGATTTGGCTGCCTCTTGCCAGGAGTGGTGGCTCGTGCCTGTAATTCCAGCACTTTGGGAGACTAAGGCGGGAGGTTCGCTTGAGCCCAGGAGTTCAAGACCAGCCTGGGCAACAATGAGACCCCTGTGTCTACAAAAAGAATTAAAATTAGCCAGGTGTGGTGGCACGCACCTGTAGTCCCAGCTACTTGGGAGGCTGAGGTGGGAGGATTGCCTGAGTCCGGGAGGCGGAAGTTGCAAGGAGCCATGATCGCGCCACTGCACTTCAACCTAGGCAACAGAGTGAGACTTTGTCTCAAAAAACAATCATATAATAATTTTAAAATAAATAGATTTGGCTTCCTCTAAATGTCCCCGGGGACTCCGTGCATCTTCTGTGGAGTGTCTCCGTGAGATTCGGGACTCAGATCCTCAAGTGCAACTGACCCACCCGATAAGCTGAGGCTTCATCATCCCCTGGCCGGTCTATGTCGACTGGGCACCCGAGGCTCCTCTCCCACCAGCTCTCTTGGTCAGCTGAAAGCAAACTGTTAACACCCTGGGGAGCTGGACGTATGAGACCCTTGGGGTGGGAGGCGTTGATTTTTGAGAGCAATCACCTGGCCCTGGCTGGCAGTACCGGGACACTGCTGTGGCTCCGGGGTGGGCTGTCTCCAGAAAATGCCTGGCCTGAGGCAGCCACCCGCATCCAGCCCAGAGGGTTTATTCTTGCAATGTGCTGCTGCTTCCTGCCCTGAGCACCTGGATCCCGGCTTCTGCCCTGAGGCCCCTTGAGTCCCACAGGTAGCAAGCGCTTGCCCTGCGGCTGCTGCATGGGGCTAACTAACGCTTCCTCACCAGTGTCTGCTAAGTGTCTCCTCTGTCTCCCACGCCCTGCTCTCCTGTCCCCCCAGTTTGTCTGCTGTGAGGGGACAGAAGAGGTGTGTGCCGCCCCCACCCCTGCCCGGGCCCTTGTTCCTGGGATTGCTGTTTTCAGCTGTTTGAGCTTTGATCCTGGTTCTCTGGCTTCCTCAAAGTGAGCTCGGCCAGAGGAGGAAGGCCATGTGCTTTCTGGTTGAAGTCAAGTCTGGTGCCCTGGTGGAGGCTGTGCTGCTGAGGCGGAGCTGGGGAGAGAGTGCACACGGGCTGCGTGGCCAACCCCTCTGGGTAGCTGATGCCCAAAGACGCTGCAGTGCCCAGGACATCTGGGACCTCCCTGGGGCCCGCCCGTGTGTCCCGCGCTGTGTTCATCTGCGGGCTAGCCTGTGACCCGCGCTGTGCTCGTCTGCGGGCT
Task1_train_24799
This variant affects gene MAPT (microtubule associated protein tau) located on Chromosome 17. Evaluate its biological effect and specify any disease association.
Pathogenic; Parkinson disease, late-onset
GACGGGGTTTCACCACGTTGGCCAGGCTGCTCTTGAACTCCTGACGTCAGGTGATCCACCAGCCTTGACCTCCCAAAGTGCTAGGATTACAGGAGCCACTGTACCCAGCCTAGGATATGATATCACTTCTTAGAGCAAGATACAAAATTGCATGTGCACAATAATTCTACCAAGTATAGGTATACAGGGGTAGTTATATATAAATGAGACTTCAAGGAAATACAACAAAATGCAATCGTGATTGTGTTAGGGTGGTAAGAAAACGGTTTTTGCTTTGATGAGCTCTGTTTTTTAAAATCGTTATATTTTCTAATAAAAATACATAGTCTTTTGAAGGAACATAAAAGATTATGAAGAAATGAGTTAGATATTGATTCCTATTGAAGATTCAGACAAGTAAAATTAAGGGGAAAAAAAACGGGATGAACCAGAAGTCAGGCTGGAGTTCCAACCCCAGATCCGACAGCCCAGGCTGATGGGGCCTCCAGGGCAGTGGTTTCCACCCAGCATTCTCAAAAGAGCCACTGAGGTCTCAGTGCCATTTTCAAGATTTCGGAAGCGGCCTGGGCACGGCTGGTCCTTCACTGGGATCACCACTTGGCAATTATTTACACCTGAGACGAATAAAAACCAGAGTGCTGAGATTACAGGCATGGTGGCTTACGCTTGTAATCGGCTTTGGGAAGCCGAGGTGGGCTGATTGCTTGAGCCCAGGAGTTTCAAACTATCCTGGACAACATAGCATGACCTCGTCTCTACAAAAAATACAAAAAATTTGCCAGGTGTGGTGGCATGTGCCTGTGGTCCCAGCTACTTGGGAGGCTGAAGTAGGAGAATCCCCTGAGCCCTGGGAAGTCGAGGCTGCACTGAGCCGTGATGGTGTCACTGCACTCCAGCCTGGGTGACAAAGTGAGACCCTATCTCACAAAGAAAAAAAACAAAACAAAAAACCCAAAGCACACTGTTTCCACTGTTTCCAGAGTTCCTGAGAGGAAAGGTCACCGGGTGAGGAAGACGTTCTCACTGATCTGGCAGAGAAAATGTCCAGTTTTTCCAACTCCCTAAACCATGGTTTTCTATTTCATAGTTCTTAGGCAAATTGGTAAAAATCATTTCTCATCAAAACGCTGATATTTTCACACCTCCCTGGTGTCTGCAGAAAGAACCTTCCAGAAATGCAGTCGTGGGAGACCCATCCAGGCCACCCCTGCTTATGGAAGAGCTGAGAAAAAGCCCCACGGGAGCATTTGCTCAGCTTCCGTTACGCACCTAGTGGCATTGTGGGTGGGAGAGGGCTGGTGGGTGGATGGAAGGAGAAGGCACAGCCCCCCCTTGCAGGGACAGAGCCCTCGTACAGAAGGGACACCCCACATTTGTCTTCCCCACAAAGCGGCCTGTGTCCTGCCTACGGGGTCAGGGCTTCTCAAACCTGGCTGTGTGTCAGAATCACCAGGGGAACTTTTCAAAACTAGAGAGACTGAAGCCAGACTCCTAGATTCTAATTCTAGGTCAGGGCTAGGGGCTGAGATTGTAAAAATCCACAGGTGATTCTGATGCCCGGCAGGCTTGAGAACAGCCGCAGGGAGTTCTCTGGGAATGTGCCGGTGGGTCTAGCCAGGTGTGAGTGGAGATGCCGGGGAACTTCCTATTACTCACTCGTCAGTGTGGCCGAACACATTTTTCACTTGACCTCAGGCTGGTGAACGCTCCCCTCTGGGGTTCAGGCCTCACGATGCCATCCTTTTGTGAAGTGAGGACCTGCAATCCCAGCTTCGTAAAGCCCGCTGGAAATCACTCACACTTCTGGGATGCCTTCAGAGCAGCCCTCTATCCCTTCAGCTCCCCTGGGATGTGACTCAACCTCCCGTCACTCCCCAGACTGCCTCTGCCAAGTCCGAAAGTGGAGGCATCCTTGCGAGCAAGTAGGCGGGTCCAGGGTGGCGCATGTCACTCATCGAAAGTGGAGGCGTCCTTGCGAGCAAGCAGGCGGGTCCAGGGTGGCGTGTCACTCATCCTTTTTTCTGGCTACCAAAGGTGCAGATAATTAATAAGAAGCTGGATCTTAGCAACGTCCAGTCCAAGTGTGGCTCAAAGGATAATATCAAACACGTCCCGGGAGGCGGCAGTGTGAGTACCTTCACACGTCCCATGCGCCGTGCTGTGGCTTGAATTATTAGGAAGTGGTGTGAGTGCGTACACTTGCGAGACACTGCATAGAATAAATCCTTCTTGGGCTCTCAGGATCTGGCTGCGACCTCTGGGTGAATGTAGCCCGGCTCCCCACATTCCCCCACACGGTCCACTGTTCCCAGAAGCCCCTTCCTCATATTCTAGGAGGGGGTGTCCCAGCATTTCTGGGTCCCCCAGCCTGCGCAGGCTGTGTGGACAGAATAGGGCAGATGACGGACCCTCTCTCCGGACCCTGCCTGGGAAGCTGAGAATACCCATCAAAGTCTCCTTCCACTCATGCCCAGCCCTGTCCCCAGGAGCCCCATAGCCCATTGGAAGTTGGGCTGAAGGTGGTGGCACCTGAGACTGGGCTGCCGCCTCCTCCCCCGACACCTGGGCAGGTTGACGTTGAGTGGCTCCACTGTGGACAGGTGACCCGTTTGTTCTGATGAGCGGACACCAAGGTCTTACTGTCCTGCTCAGCTGCTGCTCCTACACGTTCAAGGCAGGAGCCGATTCCTAAGCCTCCAGCTTATGCTTAGCCTGCGCCACCCTCTGGCAGAGACTCCAGATGCAAAGAGCCAAACCAAAGTGCGACAGGTCCCTCTGCCCAGCGTTGAGGTGTGGCAGAGAAATGCTGCTTTTGGCCCTTTTAGATTTGGCTGCCTCTTGCCAGGAGTGGTGGCTCGTGCCTGTAATTCCAGCACTTTGGGAGACTAAGGCGGGAGGTTCGCTTGAGCCCAGGAGTTCAAGACCAGCCTGGGCAACAATGAGACCCCTGTGTCTACAAAAAGAATTAAAATTAGCCAGGTGTGGTGGCACGCACCTGTAGTCCCAGCTACTTGGGAGGCTGAGGTGGGAGGATTGCCTGAGTCCGGGAGGCGGAAGTTGCAAGGAGCCATGATCGCGCCACTGCACTTCAACCTAGGCAACAGAGTGAGACTTTGTCTCAAAAAACAATCATATAATAATTTTAAAATAAATAGATTTGGCTTCCTCTAAATGTCCCCGGGGACTCCGTGCATCTTCTGTGGAGTGTCTCCGTGAGATTCGGGACTCAGATCCTCAAGTGCAACTGACCCACCCGATAAGCTGAGGCTTCATCATCCCCTGGCCGGTCTATGTCGACTGGGCACCCGAGGCTCCTCTCCCACCAGCTCTCTTGGTCAGCTGAAAGCAAACTGTTAACACCCTGGGGAGCTGGACGTATGAGACCCTTGGGGTGGGAGGCGTTGATTTTTGAGAGCAATCACCTGGCCCTGGCTGGCAGTACCGGGACACTGCTGTGGCTCCGGGGTGGGCTGTCTCCAGAAAATGCCTGGCCTGAGGCAGCCACCCGCATCCAGCCCAGAGGGTTTATTCTTGCAATGTGCTGCTGCTTCCTGCCCTGAGCACCTGGATCCCGGCTTCTGCCCTGAGGCCCCTTGAGTCCCACAGGTAGCAAGCGCTTGCCCTGCGGCTGCTGCATGGGGCTAACTAACGCTTCCTCACCAGTGTCTGCTAAGTGTCTCCTCTGTCTCCCACGCCCTGCTCTCCTGTCCCCCCAGTTTGTCTGCTGTGAGGGGACAGAAGAGGTGTGTGCCGCCCCCACCCCTGCCCGGGCCCTTGTTCCTGGGATTGCTGTTTTCAGCTGTTTGAGCTTTGATCCTGGTTCTCTGGCTTCCTCAAAGTGAGCTCGGCCAGAGGAGGAAGGCCATGTGCTTTCTGGTTGAAGTCAAGTCTGGTGCCCTGGTGGAGGCTGTGCTGCTGAGGCGGAGCTGGGGAGAGAGTGCACACGGGCTGCGTGGCCAACCCCTCTGGGTAGCTGATGCCCAAAGACGCTGCAGTGCCCAGGACATCTGGGACCTCCCTGGGGCCCGCCCGTGTGTCCCGCGCTGTGTTCATCTGCGGGCTAGCCTGTGACCCGCGCTGTGCTCGTCTGCGGGCT
GACGGGGTTTCACCACGTTGGCCAGGCTGCTCTTGAACTCCTGACGTCAGGTGATCCACCAGCCTTGACCTCCCAAAGTGCTAGGATTACAGGAGCCACTGTACCCAGCCTAGGATATGATATCACTTCTTAGAGCAAGATACAAAATTGCATGTGCACAATAATTCTACCAAGTATAGGTATACAGGGGTAGTTATATATAAATGAGACTTCAAGGAAATACAACAAAATGCAATCGTGATTGTGTTAGGGTGGTAAGAAAACGGTTTTTGCTTTGATGAGCTCTGTTTTTTAAAATCGTTATATTTTCTAATAAAAATACATAGTCTTTTGAAGGAACATAAAAGATTATGAAGAAATGAGTTAGATATTGATTCCTATTGAAGATTCAGACAAGTAAAATTAAGGGGAAAAAAAACGGGATGAACCAGAAGTCAGGCTGGAGTTCCAACCCCAGATCCGACAGCCCAGGCTGATGGGGCCTCCAGGGCAGTGGTTTCCACCCAGCATTCTCAAAAGAGCCACTGAGGTCTCAGTGCCATTTTCAAGATTTCGGAAGCGGCCTGGGCACGGCTGGTCCTTCACTGGGATCACCACTTGGCAATTATTTACACCTGAGACGAATAAAAACCAGAGTGCTGAGATTACAGGCATGGTGGCTTACGCTTGTAATCGGCTTTGGGAAGCCGAGGTGGGCTGATTGCTTGAGCCCAGGAGTTTCAAACTATCCTGGACAACATAGCATGACCTCGTCTCTACAAAAAATACAAAAAATTTGCCAGGTGTGGTGGCATGTGCCTGTGGTCCCAGCTACTTGGGAGGCTGAAGTAGGAGAATCCCCTGAGCCCTGGGAAGTCGAGGCTGCACTGAGCCGTGATGGTGTCACTGCACTCCAGCCTGGGTGACAAAGTGAGACCCTATCTCACAAAGAAAAAAAACAAAACAAAAAACCCAAAGCACACTGTTTCCACTGTTTCCAGAGTTCCTGAGAGGAAAGGTCACCGGGTGAGGAAGACGTTCTCACTGATCTGGCAGAGAAAATGTCCAGTTTTTCCAACTCCCTAAACCATGGTTTTCTATTTCATAGTTCTTAGGCAAATTGGTAAAAATCATTTCTCATCAAAACGCTGATATTTTCACACCTCCCTGGTGTCTGCAGAAAGAACCTTCCAGAAATGCAGTCGTGGGAGACCCATCCAGGCCACCCCTGCTTATGGAAGAGCTGAGAAAAAGCCCCACGGGAGCATTTGCTCAGCTTCCGTTACGCACCTAGTGGCATTGTGGGTGGGAGAGGGCTGGTGGGTGGATGGAAGGAGAAGGCACAGCCCCCCCTTGCAGGGACAGAGCCCTCGTACAGAAGGGACACCCCACATTTGTCTTCCCCACAAAGCGGCCTGTGTCCTGCCTACGGGGTCAGGGCTTCTCAAACCTGGCTGTGTGTCAGAATCACCAGGGGAACTTTTCAAAACTAGAGAGACTGAAGCCAGACTCCTAGATTCTAATTCTAGGTCAGGGCTAGGGGCTGAGATTGTAAAAATCCACAGGTGATTCTGATGCCCGGCAGGCTTGAGAACAGCCGCAGGGAGTTCTCTGGGAATGTGCCGGTGGGTCTAGCCAGGTGTGAGTGGAGATGCCGGGGAACTTCCTATTACTCACTCGTCAGTGTGGCCGAACACATTTTTCACTTGACCTCAGGCTGGTGAACGCTCCCCTCTGGGGTTCAGGCCTCACGATGCCATCCTTTTGTGAAGTGAGGACCTGCAATCCCAGCTTCGTAAAGCCCGCTGGAAATCACTCACACTTCTGGGATGCCTTCAGAGCAGCCCTCTATCCCTTCAGCTCCCCTGGGATGTGACTCAACCTCCCGTCACTCCCCAGACTGCCTCTGCCAAGTCCGAAAGTGGAGGCATCCTTGCGAGCAAGTAGGCGGGTCCAGGGTGGCGCATGTCACTCATCGAAAGTGGAGGCGTCCTTGCGAGCAAGCAGGCGGGTCCAGGGTGGCGTGTCACTCATCCTTTTTTCTGGCTACCAAAGGTGCAGATAATTAAGAAGAAGCTGGATCTTAGCAACGTCCAGTCCAAGTGTGGCTCAAAGGATAATATCAAACACGTCCCGGGAGGCGGCAGTGTGAGTACCTTCACACGTCCCATGCGCCGTGCTGTGGCTTGAATTATTAGGAAGTGGTGTGAGTGCGTACACTTGCGAGACACTGCATAGAATAAATCCTTCTTGGGCTCTCAGGATCTGGCTGCGACCTCTGGGTGAATGTAGCCCGGCTCCCCACATTCCCCCACACGGTCCACTGTTCCCAGAAGCCCCTTCCTCATATTCTAGGAGGGGGTGTCCCAGCATTTCTGGGTCCCCCAGCCTGCGCAGGCTGTGTGGACAGAATAGGGCAGATGACGGACCCTCTCTCCGGACCCTGCCTGGGAAGCTGAGAATACCCATCAAAGTCTCCTTCCACTCATGCCCAGCCCTGTCCCCAGGAGCCCCATAGCCCATTGGAAGTTGGGCTGAAGGTGGTGGCACCTGAGACTGGGCTGCCGCCTCCTCCCCCGACACCTGGGCAGGTTGACGTTGAGTGGCTCCACTGTGGACAGGTGACCCGTTTGTTCTGATGAGCGGACACCAAGGTCTTACTGTCCTGCTCAGCTGCTGCTCCTACACGTTCAAGGCAGGAGCCGATTCCTAAGCCTCCAGCTTATGCTTAGCCTGCGCCACCCTCTGGCAGAGACTCCAGATGCAAAGAGCCAAACCAAAGTGCGACAGGTCCCTCTGCCCAGCGTTGAGGTGTGGCAGAGAAATGCTGCTTTTGGCCCTTTTAGATTTGGCTGCCTCTTGCCAGGAGTGGTGGCTCGTGCCTGTAATTCCAGCACTTTGGGAGACTAAGGCGGGAGGTTCGCTTGAGCCCAGGAGTTCAAGACCAGCCTGGGCAACAATGAGACCCCTGTGTCTACAAAAAGAATTAAAATTAGCCAGGTGTGGTGGCACGCACCTGTAGTCCCAGCTACTTGGGAGGCTGAGGTGGGAGGATTGCCTGAGTCCGGGAGGCGGAAGTTGCAAGGAGCCATGATCGCGCCACTGCACTTCAACCTAGGCAACAGAGTGAGACTTTGTCTCAAAAAACAATCATATAATAATTTTAAAATAAATAGATTTGGCTTCCTCTAAATGTCCCCGGGGACTCCGTGCATCTTCTGTGGAGTGTCTCCGTGAGATTCGGGACTCAGATCCTCAAGTGCAACTGACCCACCCGATAAGCTGAGGCTTCATCATCCCCTGGCCGGTCTATGTCGACTGGGCACCCGAGGCTCCTCTCCCACCAGCTCTCTTGGTCAGCTGAAAGCAAACTGTTAACACCCTGGGGAGCTGGACGTATGAGACCCTTGGGGTGGGAGGCGTTGATTTTTGAGAGCAATCACCTGGCCCTGGCTGGCAGTACCGGGACACTGCTGTGGCTCCGGGGTGGGCTGTCTCCAGAAAATGCCTGGCCTGAGGCAGCCACCCGCATCCAGCCCAGAGGGTTTATTCTTGCAATGTGCTGCTGCTTCCTGCCCTGAGCACCTGGATCCCGGCTTCTGCCCTGAGGCCCCTTGAGTCCCACAGGTAGCAAGCGCTTGCCCTGCGGCTGCTGCATGGGGCTAACTAACGCTTCCTCACCAGTGTCTGCTAAGTGTCTCCTCTGTCTCCCACGCCCTGCTCTCCTGTCCCCCCAGTTTGTCTGCTGTGAGGGGACAGAAGAGGTGTGTGCCGCCCCCACCCCTGCCCGGGCCCTTGTTCCTGGGATTGCTGTTTTCAGCTGTTTGAGCTTTGATCCTGGTTCTCTGGCTTCCTCAAAGTGAGCTCGGCCAGAGGAGGAAGGCCATGTGCTTTCTGGTTGAAGTCAAGTCTGGTGCCCTGGTGGAGGCTGTGCTGCTGAGGCGGAGCTGGGGAGAGAGTGCACACGGGCTGCGTGGCCAACCCCTCTGGGTAGCTGATGCCCAAAGACGCTGCAGTGCCCAGGACATCTGGGACCTCCCTGGGGCCCGCCCGTGTGTCCCGCGCTGTGTTCATCTGCGGGCTAGCCTGTGACCCGCGCTGTGCTCGTCTGCGGGCT