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_1900
Given this variant in gene NTRK1 (neurotrophic receptor tyrosine kinase 1) on Chromosome 1, classify it as benign or pathogenic. Include the disorder it may cause if applicable.
Pathogenic; Inborn genetic diseases
TGGAGGGGGCTCTGTCTCCTTCGCTATCCCAGATGGAAACAGCACCTTCGGTTTTTGCCTCTTAGACCTGAGAGCCACCACTGTTTGTTTATTTATTTATTTAATTTATTTTTTTGAGACGGCGTCTCACTCTGTTGCTAGGCTGGAGTGCAGTGGCACGATCTCGGCTCACTGCAACCTCTGACTCCCTGGTTCAAGCGATTCTCCTGCTTCAGCCTCCCGAGTAGCTGGGATTACAGGCCACACGCCATCACGCCCAACTAATTTTTGTATTTTTAGTAGAGATGGGGTTTCACCATGTTGGCCAGGATGGTCTCGATCTCCTGACCTCGTGATTGCCCACCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAACCACCGAGCTTGTGTATTTATTTTTAATGATGGGGCTGGGGTAGGCTGTGCCTTGACGGGCTGTCCCAGGCGCCCCTGGAATTGATGCAGTGTCCGCCCGTGGCAGGTGGGAGGCCGCACCATGCTGCCCATTCGCTGGATGCCGCCCGAGAGCATCCTGTACCGTAAGTTCACCACCGAGAGCGACGTGTGGAGCTTCGGCGTGGTGCTCTGGGAGATCTTCACCTACGGCAAGCAGCCCTGGTACCAGCTCTCCAACACGGAGGTCAGCCCCGGCCCATGGTCACCCCTTGCTGGCCTCCCCGTCCCATGCCCCTTCAGGTTCCTTTTTCAGGGAACTCGGTTCCCCTTCTGCCCCTCTGCCACAGCCTGTTGGGGGGCCCTTTCCAGCGCCGTGCCCACACTGTGTCCCCTCCACTGTGGCCCTTTTCTTCTCTTCCTCCCTTATTCTTGCCTTCACCTACTGTCCTAAGCCCAGGCCCAGTTGGCCCCTGGGGGAACCTCAAAGTGCTTTGTACAAGGAGCCCAGACCCCCATCCCTAGCTGCATTTTATAGACCTAAGCAGGAATTATCAGAGTGGAAGGGACCAGCACGGGAAGAGGAACCCAGCACAAGAAGGCCCAACACTGCAGCAGGACGGCTGGAGGTTAGACTGTCAGAAGGACAGTCCTACCCCCTCCCCCTGCCCTCCTAGCTGGCCACAGCCAGAGCAGGCCCCAGGTGTTCTGTCTCCCAGAGCAGCTGCCCCCACCCCCTGCTTGGCTCGCAGCTGTCAGTTTCCATTTCTCCTCCTAATGCAGTCTGCTCCCCGGAGGCTGGTGGGGTGGGGGAGAGGGTTATAGATTTTAATTTTCTCAAGCACTGAGAGAAGAAATGGAATTAGTGCCGCCCATAACCCAAGTCCTCTAATAGGGAGGGGGGAAGAAGGGGAAAAGAGGCTCCAGGCCCCTTCTCCAATCACTCCCTGCCACCCTTTCTCCTTTGGATTCCTTGGCTGCTTTAGCAGTTCTTCCTAGAGTCTAACTTTGATCTTTCTTGCTGCAGTTTCTTTTTGGGAGAGCTAGTCAGTCCCACAGAGTGGTATCCCTAGAAGGGAGAAGTAAGGATTGCCCTCTTCTTTAAAATGAAAGCCAGCTATTTTTCACGCCCTTTAACTGCAGTTCTGCTCTATTTTCTTTTCTCTCTCTGGAGCTGAGAGTCAGAGGGCCCTTCTCCTCCTCCTTTCAGCCCCCAACACTAAGCTGATGGATTGATAAATACCTCAGCCCCTCGCCTTCCTCAACCCACCTGGCAAGTCTTCTTAGGATCTGATCCCAGTTTTCTGGAAGCAATCCTACCCCAGCCCAAGCTTCCCATAGTCGAGCCTTAATCCTTCTCACTTCTCAGTGTCAGAGCAGAAATGAATCCTGGGGTTGACTGTGTCCATTCGGGTTATTAGCAGCTAAGAAGCCCAGACGAGTAGTGTGAGCTGCCTTGGGAGCCTCAGTGAGGGCACTGGGACTGGCCTCACTCTCTTGCCCCCAGCCTAGTGGGCTTTCTCCTCTGTCTCTCCGGTGGCCCCAGGCAATCGACTGCATCACGCAGGGACGTGAGTTGGAGCGGCCACGTGCCTGCCCACCAGAGGTCTACGCCATCATGCGGGGCTGCTGGCAGCGGGAGCCCCAGCAACGCCACAGCATCAAGGATGTGCACGCCCGGCTGCAAGCCCTGGCCCAGGCACCTCCTGTCTACCTGGATGTCCTGGGCTAGGGGGCCGGCCCAGGGGCTGGGAGTGGTTAGCCGGAATACTGGGGCCTGCCCTCAGCATCCCCCATAGCTCCCAGCAGCCCCAGGGTGATCTCAAAGTATCTAATTCACCCTCAGCATGTGGGAAGGGACAGGTGGGGGCTGGGAGTAGAGGATGTTCCTGCTTCTCTAGGCAAGGTCCCGTCATAGCAATTATATTTATTATCCCTTGGCTGTGTCTCTTGCCAGTTATTGGGATGACGTCGTTCCAGGAGGGAGGCATTGGGATTCAGGTAGGGGGACAGCTCTCTGGGATCTTCCCCCACTCAGGTTCCCCTCAGCTGCCTACCCCTACTCCATGGACCTGTCACTCTCACCTTTGACTATAGTTTGGATCCCATTCCCATGGTCACCTGGCTCACCTGCTGGTAAGGCAGCCTCTGGTCAAACTTCCTAGACCTTGAGAGCCTAACTGTCAATCTTTGTAGTTCATGTTCAGGAAGGCTGGGCTATAGTGGAAGGGGTGGAAGTTAGATGTACTGGTAGGATGGGAGCGTTGATGGGGTGTCTTCCTTGTATTGGTGTGTCCGGGACAGAGCAAGCACGCAGCAGCAGATGAGAGAGAAACATGTGTGTGTGTGTGTGGGGTGATGGGGGGCAGGAAAGGGACGGAGCTGGACTAAGGATTGATGGAGGCAGGACCCCTTGTTCCTGCCCCTCTGTTACTCTTCTTAGCTCTAGGTGCTTTGATTAGCATCTGGAGGCCAGGTACTGTGTAAAGAGGCTATTTCCTAAGGACAAAGCCATCTCCCTGTCCCATTCTGTCCAAGGGAGTAGGTGAGGTCTCCCCTGTCCTCTGTCCCTTGGAACATGACTGGCCTTAACTGAGTGGTCTGAGGCTCTGTCAGCAGCACTGAGACTGGGCCCCATCATGTCAGGGCACCTGGGCCCTGTCTTCACCTTCCCTAACCCAAAGGCTTGCATTCCACCCAGAGCCAGGGAGGAGCAGCTTCCCCGCCACCCTCAGCCCTATCACTTCCAATCACCTGTCCAGTTCCTGCAATAATGCAAGCTTCCCATGGCTCCTCAGGGCTAATCACATGGCTGTCTCATGTCCCTGGGTGCCAGTCCCACCCCACCCCCACTCCCATGATTCAATCTGTGTCTTATCGCCCCTAGGCCTAGCCCTGTGGTGTGTCTGCCTCTTGTCCAGGCTGGTTAGTGCTAATGGAGGACTGACCCAGGGCTGCAGGCTGATCGATGGGGGAATTGGGGTGTGTGTGTGTGGTTGGTCCCTAAGGGCCAAGTTCACAGGCCTTCCTCTCCTGCCGGGTATGGGTGGGGCTGGTGCCGCATCACCCCTATGAGGGAGGGCACTTAAAGCAGATGGAGCCATCGGGAGGAAAGGGCTTGGGAACATGGTGAGGGATGCAGAGTTGGGGGATCAGATCCAACAGGTGAGCCCAGGGACAGATGCAGAGGGAGAGACAGTGCAGAGAGAGAGACAGGGACAGGACATACAGACATAGTGACATAGAGAGAGACTGCAGAGGGAGATATAAAGACTGAGACATGCAGATAGAGAGAAAGATGGAGACAGACACACAGACATAGCCGGACACACATGGAGAGAGAGGGTGAGACCAGCGCTGCAAACAGACACAGGTACGGCAGTGGCTCAATCAGAGGAAGTCTGGGAGGACATCATGGACTCCCCAGGGGGCTTTCTACCTCACTCACCCCCTCACCTGTGCCCTTTGAGCCTCTCTGCAGGGGCTAGGAGAGGATGGGACACCCAGACGTGGAGGCTCTGTGGGTAGAGACAGGAGGGGACCTGAGGTTTGCCCCATAAAGAGCAGGATAGGGGCATCACTAAAGAGCTGGTTTGGAGGTCAGGTAGCACGAGGGAGCTGCCAGGGCATGTGAACCATTTTCAAGGTTATCAGGCCTCAGATGTGGGGACATCAGAGGCTCTTAAACCATAACCAGAA
TGGAGGGGGCTCTGTCTCCTTCGCTATCCCAGATGGAAACAGCACCTTCGGTTTTTGCCTCTTAGACCTGAGAGCCACCACTGTTTGTTTATTTATTTATTTAATTTATTTTTTTGAGACGGCGTCTCACTCTGTTGCTAGGCTGGAGTGCAGTGGCACGATCTCGGCTCACTGCAACCTCTGACTCCCTGGTTCAAGCGATTCTCCTGCTTCAGCCTCCCGAGTAGCTGGGATTACAGGCCACACGCCATCACGCCCAACTAATTTTTGTATTTTTAGTAGAGATGGGGTTTCACCATGTTGGCCAGGATGGTCTCGATCTCCTGACCTCGTGATTGCCCACCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAACCACCGAGCTTGTGTATTTATTTTTAATGATGGGGCTGGGGTAGGCTGTGCCTTGACGGGCTGTCCCAGGCGCCCCTGGAATTGATGCAGTGTCCGCCCGTGGCAGGTGGGAGGCCGCACCATGCTGCCCATTCGCTGGATGCCGCCCGAGAGCATCCTGTACCGTAAGTTCACCACCGAGAGCGACGTGTGGAGCTTCGGCGTGGTGCTCTGGGAGATCTTCACCTACGGCAAGCAGCCCTGGTACCAGCTCTCCAACACGGAGGTCAGCCCCGGCCCATGGTCACCCCTTGCTGGCCTCCCCGTCCCATGCCCCTTCAGGTTCCTTTTTCAGGGAACTCGGTTCCCCTTCTGCCCCTCTGCCACAGCCTGTTGGGGGGCCCTTTCCAGCGCCGTGCCCACACTGTGTCCCCTCCACTGTGGCCCTTTTCTTCTCTTCCTCCCTTATTCTTGCCTTCACCTACTGTCCTAAGCCCAGGCCCAGTTGGCCCCTGGGGGAACCTCAAAGTGCTTTGTACAAGGAGCCCAGACCCCCATCCCTAGCTGCATTTTATAGACCTAAGCAGGAATTATCAGAGTGGAAGGGACCAGCACGGGAAGAGGAACCCAGCACAAGAAGGCCCAACACTGCAGCAGGACGGCTGGAGGTTAGACTGTCAGAAGGACAGTCCTACCCCCTCCCCCTGCCCTCCTAGCTGGCCACAGCCAGAGCAGGCCCCAGGTGTTCTGTCTCCCAGAGCAGCTGCCCCCACCCCCTGCTTGGCTCGCAGCTGTCAGTTTCCATTTCTCCTCCTAATGCAGTCTGCTCCCCGGAGGCTGGTGGGGTGGGGGAGAGGGTTATAGATTTTAATTTTCTCAAGCACTGAGAGAAGAAATGGAATTAGTGCCGCCCATAACCCAAGTCCTCTAATAGGGAGGGGGGAAGAAGGGGAAAAGAGGCTCCAGGCCCCTTCTCCAATCACTCCCTGCCACCCTTTCTCCTTTGGATTCCTTGGCTGCTTTAGCAGTTCTTCCTAGAGTCTAACTTTGATCTTTCTTGCTGCAGTTTCTTTTTGGGAGAGCTAGTCAGTCCCACAGAGTGGTATCCCTAGAAGGGAGAAGTAAGGATTGCCCTCTTCTTTAAAATGAAAGCCAGCTATTTTTCACGCCCTTTAACTGCAGTTCTGCTCTATTTTCTTTTCTCTCTCTGGAGCTGAGAGTCAGAGGGCCCTTCTCCTCCTCCTTTCAGCCCCCAACACTAAGCTGATGGATTGATAAATACCTCAGCCCCTCGCCTTCCTCAACCCACCTGGCAAGTCTTCTTAGGATCTGATCCCAGTTTTCTGGAAGCAATCCTACCCCAGCCCAAGCTTCCCATAGTCGAGCCTTAATCCTTCTCACTTCTCAGTGTCAGAGCAGAAATGAATCCTGGGGTTGACTGTGTCCATTCGGGTTATTAGCAGCTAAGAAGCCCAGACGAGTAGTGTGAGCTGCCTTGGGAGCCTCAGTGAGGGCACTGGGACTGGCCTCACTCTCTTGCCCCCAGCCTAGTGGGCTTTCTCCTCTGTCTCTCCGGTGGCCCCAGGCAATCGACTGCATCACGCAGGGACGTGAGTTGGAGCGGCCACGTGCCTGCCCACCAGAGGTCTACGCCATCATGCGGGGCTGCTGGCAGCGGGAGCCCCAGCAATGCCACAGCATCAAGGATGTGCACGCCCGGCTGCAAGCCCTGGCCCAGGCACCTCCTGTCTACCTGGATGTCCTGGGCTAGGGGGCCGGCCCAGGGGCTGGGAGTGGTTAGCCGGAATACTGGGGCCTGCCCTCAGCATCCCCCATAGCTCCCAGCAGCCCCAGGGTGATCTCAAAGTATCTAATTCACCCTCAGCATGTGGGAAGGGACAGGTGGGGGCTGGGAGTAGAGGATGTTCCTGCTTCTCTAGGCAAGGTCCCGTCATAGCAATTATATTTATTATCCCTTGGCTGTGTCTCTTGCCAGTTATTGGGATGACGTCGTTCCAGGAGGGAGGCATTGGGATTCAGGTAGGGGGACAGCTCTCTGGGATCTTCCCCCACTCAGGTTCCCCTCAGCTGCCTACCCCTACTCCATGGACCTGTCACTCTCACCTTTGACTATAGTTTGGATCCCATTCCCATGGTCACCTGGCTCACCTGCTGGTAAGGCAGCCTCTGGTCAAACTTCCTAGACCTTGAGAGCCTAACTGTCAATCTTTGTAGTTCATGTTCAGGAAGGCTGGGCTATAGTGGAAGGGGTGGAAGTTAGATGTACTGGTAGGATGGGAGCGTTGATGGGGTGTCTTCCTTGTATTGGTGTGTCCGGGACAGAGCAAGCACGCAGCAGCAGATGAGAGAGAAACATGTGTGTGTGTGTGTGGGGTGATGGGGGGCAGGAAAGGGACGGAGCTGGACTAAGGATTGATGGAGGCAGGACCCCTTGTTCCTGCCCCTCTGTTACTCTTCTTAGCTCTAGGTGCTTTGATTAGCATCTGGAGGCCAGGTACTGTGTAAAGAGGCTATTTCCTAAGGACAAAGCCATCTCCCTGTCCCATTCTGTCCAAGGGAGTAGGTGAGGTCTCCCCTGTCCTCTGTCCCTTGGAACATGACTGGCCTTAACTGAGTGGTCTGAGGCTCTGTCAGCAGCACTGAGACTGGGCCCCATCATGTCAGGGCACCTGGGCCCTGTCTTCACCTTCCCTAACCCAAAGGCTTGCATTCCACCCAGAGCCAGGGAGGAGCAGCTTCCCCGCCACCCTCAGCCCTATCACTTCCAATCACCTGTCCAGTTCCTGCAATAATGCAAGCTTCCCATGGCTCCTCAGGGCTAATCACATGGCTGTCTCATGTCCCTGGGTGCCAGTCCCACCCCACCCCCACTCCCATGATTCAATCTGTGTCTTATCGCCCCTAGGCCTAGCCCTGTGGTGTGTCTGCCTCTTGTCCAGGCTGGTTAGTGCTAATGGAGGACTGACCCAGGGCTGCAGGCTGATCGATGGGGGAATTGGGGTGTGTGTGTGTGGTTGGTCCCTAAGGGCCAAGTTCACAGGCCTTCCTCTCCTGCCGGGTATGGGTGGGGCTGGTGCCGCATCACCCCTATGAGGGAGGGCACTTAAAGCAGATGGAGCCATCGGGAGGAAAGGGCTTGGGAACATGGTGAGGGATGCAGAGTTGGGGGATCAGATCCAACAGGTGAGCCCAGGGACAGATGCAGAGGGAGAGACAGTGCAGAGAGAGAGACAGGGACAGGACATACAGACATAGTGACATAGAGAGAGACTGCAGAGGGAGATATAAAGACTGAGACATGCAGATAGAGAGAAAGATGGAGACAGACACACAGACATAGCCGGACACACATGGAGAGAGAGGGTGAGACCAGCGCTGCAAACAGACACAGGTACGGCAGTGGCTCAATCAGAGGAAGTCTGGGAGGACATCATGGACTCCCCAGGGGGCTTTCTACCTCACTCACCCCCTCACCTGTGCCCTTTGAGCCTCTCTGCAGGGGCTAGGAGAGGATGGGACACCCAGACGTGGAGGCTCTGTGGGTAGAGACAGGAGGGGACCTGAGGTTTGCCCCATAAAGAGCAGGATAGGGGCATCACTAAAGAGCTGGTTTGGAGGTCAGGTAGCACGAGGGAGCTGCCAGGGCATGTGAACCATTTTCAAGGTTATCAGGCCTCAGATGTGGGGACATCAGAGGCTCTTAAACCATAACCAGAA
Task1_train_1901
Assess the clinical impact of this variant on gene NTRK1 (neurotrophic receptor tyrosine kinase 1), found on Chromosome 1. State whether it’s pathogenic or benign, and the disease if applicable.
Pathogenic; Hereditary insensitivity to pain with anhidrosis
CCAGATGGAAACAGCACCTTCGGTTTTTGCCTCTTAGACCTGAGAGCCACCACTGTTTGTTTATTTATTTATTTAATTTATTTTTTTGAGACGGCGTCTCACTCTGTTGCTAGGCTGGAGTGCAGTGGCACGATCTCGGCTCACTGCAACCTCTGACTCCCTGGTTCAAGCGATTCTCCTGCTTCAGCCTCCCGAGTAGCTGGGATTACAGGCCACACGCCATCACGCCCAACTAATTTTTGTATTTTTAGTAGAGATGGGGTTTCACCATGTTGGCCAGGATGGTCTCGATCTCCTGACCTCGTGATTGCCCACCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAACCACCGAGCTTGTGTATTTATTTTTAATGATGGGGCTGGGGTAGGCTGTGCCTTGACGGGCTGTCCCAGGCGCCCCTGGAATTGATGCAGTGTCCGCCCGTGGCAGGTGGGAGGCCGCACCATGCTGCCCATTCGCTGGATGCCGCCCGAGAGCATCCTGTACCGTAAGTTCACCACCGAGAGCGACGTGTGGAGCTTCGGCGTGGTGCTCTGGGAGATCTTCACCTACGGCAAGCAGCCCTGGTACCAGCTCTCCAACACGGAGGTCAGCCCCGGCCCATGGTCACCCCTTGCTGGCCTCCCCGTCCCATGCCCCTTCAGGTTCCTTTTTCAGGGAACTCGGTTCCCCTTCTGCCCCTCTGCCACAGCCTGTTGGGGGGCCCTTTCCAGCGCCGTGCCCACACTGTGTCCCCTCCACTGTGGCCCTTTTCTTCTCTTCCTCCCTTATTCTTGCCTTCACCTACTGTCCTAAGCCCAGGCCCAGTTGGCCCCTGGGGGAACCTCAAAGTGCTTTGTACAAGGAGCCCAGACCCCCATCCCTAGCTGCATTTTATAGACCTAAGCAGGAATTATCAGAGTGGAAGGGACCAGCACGGGAAGAGGAACCCAGCACAAGAAGGCCCAACACTGCAGCAGGACGGCTGGAGGTTAGACTGTCAGAAGGACAGTCCTACCCCCTCCCCCTGCCCTCCTAGCTGGCCACAGCCAGAGCAGGCCCCAGGTGTTCTGTCTCCCAGAGCAGCTGCCCCCACCCCCTGCTTGGCTCGCAGCTGTCAGTTTCCATTTCTCCTCCTAATGCAGTCTGCTCCCCGGAGGCTGGTGGGGTGGGGGAGAGGGTTATAGATTTTAATTTTCTCAAGCACTGAGAGAAGAAATGGAATTAGTGCCGCCCATAACCCAAGTCCTCTAATAGGGAGGGGGGAAGAAGGGGAAAAGAGGCTCCAGGCCCCTTCTCCAATCACTCCCTGCCACCCTTTCTCCTTTGGATTCCTTGGCTGCTTTAGCAGTTCTTCCTAGAGTCTAACTTTGATCTTTCTTGCTGCAGTTTCTTTTTGGGAGAGCTAGTCAGTCCCACAGAGTGGTATCCCTAGAAGGGAGAAGTAAGGATTGCCCTCTTCTTTAAAATGAAAGCCAGCTATTTTTCACGCCCTTTAACTGCAGTTCTGCTCTATTTTCTTTTCTCTCTCTGGAGCTGAGAGTCAGAGGGCCCTTCTCCTCCTCCTTTCAGCCCCCAACACTAAGCTGATGGATTGATAAATACCTCAGCCCCTCGCCTTCCTCAACCCACCTGGCAAGTCTTCTTAGGATCTGATCCCAGTTTTCTGGAAGCAATCCTACCCCAGCCCAAGCTTCCCATAGTCGAGCCTTAATCCTTCTCACTTCTCAGTGTCAGAGCAGAAATGAATCCTGGGGTTGACTGTGTCCATTCGGGTTATTAGCAGCTAAGAAGCCCAGACGAGTAGTGTGAGCTGCCTTGGGAGCCTCAGTGAGGGCACTGGGACTGGCCTCACTCTCTTGCCCCCAGCCTAGTGGGCTTTCTCCTCTGTCTCTCCGGTGGCCCCAGGCAATCGACTGCATCACGCAGGGACGTGAGTTGGAGCGGCCACGTGCCTGCCCACCAGAGGTCTACGCCATCATGCGGGGCTGCTGGCAGCGGGAGCCCCAGCAACGCCACAGCATCAAGGATGTGCACGCCCGGCTGCAAGCCCTGGCCCAGGCACCTCCTGTCTACCTGGATGTCCTGGGCTAGGGGGCCGGCCCAGGGGCTGGGAGTGGTTAGCCGGAATACTGGGGCCTGCCCTCAGCATCCCCCATAGCTCCCAGCAGCCCCAGGGTGATCTCAAAGTATCTAATTCACCCTCAGCATGTGGGAAGGGACAGGTGGGGGCTGGGAGTAGAGGATGTTCCTGCTTCTCTAGGCAAGGTCCCGTCATAGCAATTATATTTATTATCCCTTGGCTGTGTCTCTTGCCAGTTATTGGGATGACGTCGTTCCAGGAGGGAGGCATTGGGATTCAGGTAGGGGGACAGCTCTCTGGGATCTTCCCCCACTCAGGTTCCCCTCAGCTGCCTACCCCTACTCCATGGACCTGTCACTCTCACCTTTGACTATAGTTTGGATCCCATTCCCATGGTCACCTGGCTCACCTGCTGGTAAGGCAGCCTCTGGTCAAACTTCCTAGACCTTGAGAGCCTAACTGTCAATCTTTGTAGTTCATGTTCAGGAAGGCTGGGCTATAGTGGAAGGGGTGGAAGTTAGATGTACTGGTAGGATGGGAGCGTTGATGGGGTGTCTTCCTTGTATTGGTGTGTCCGGGACAGAGCAAGCACGCAGCAGCAGATGAGAGAGAAACATGTGTGTGTGTGTGTGGGGTGATGGGGGGCAGGAAAGGGACGGAGCTGGACTAAGGATTGATGGAGGCAGGACCCCTTGTTCCTGCCCCTCTGTTACTCTTCTTAGCTCTAGGTGCTTTGATTAGCATCTGGAGGCCAGGTACTGTGTAAAGAGGCTATTTCCTAAGGACAAAGCCATCTCCCTGTCCCATTCTGTCCAAGGGAGTAGGTGAGGTCTCCCCTGTCCTCTGTCCCTTGGAACATGACTGGCCTTAACTGAGTGGTCTGAGGCTCTGTCAGCAGCACTGAGACTGGGCCCCATCATGTCAGGGCACCTGGGCCCTGTCTTCACCTTCCCTAACCCAAAGGCTTGCATTCCACCCAGAGCCAGGGAGGAGCAGCTTCCCCGCCACCCTCAGCCCTATCACTTCCAATCACCTGTCCAGTTCCTGCAATAATGCAAGCTTCCCATGGCTCCTCAGGGCTAATCACATGGCTGTCTCATGTCCCTGGGTGCCAGTCCCACCCCACCCCCACTCCCATGATTCAATCTGTGTCTTATCGCCCCTAGGCCTAGCCCTGTGGTGTGTCTGCCTCTTGTCCAGGCTGGTTAGTGCTAATGGAGGACTGACCCAGGGCTGCAGGCTGATCGATGGGGGAATTGGGGTGTGTGTGTGTGGTTGGTCCCTAAGGGCCAAGTTCACAGGCCTTCCTCTCCTGCCGGGTATGGGTGGGGCTGGTGCCGCATCACCCCTATGAGGGAGGGCACTTAAAGCAGATGGAGCCATCGGGAGGAAAGGGCTTGGGAACATGGTGAGGGATGCAGAGTTGGGGGATCAGATCCAACAGGTGAGCCCAGGGACAGATGCAGAGGGAGAGACAGTGCAGAGAGAGAGACAGGGACAGGACATACAGACATAGTGACATAGAGAGAGACTGCAGAGGGAGATATAAAGACTGAGACATGCAGATAGAGAGAAAGATGGAGACAGACACACAGACATAGCCGGACACACATGGAGAGAGAGGGTGAGACCAGCGCTGCAAACAGACACAGGTACGGCAGTGGCTCAATCAGAGGAAGTCTGGGAGGACATCATGGACTCCCCAGGGGGCTTTCTACCTCACTCACCCCCTCACCTGTGCCCTTTGAGCCTCTCTGCAGGGGCTAGGAGAGGATGGGACACCCAGACGTGGAGGCTCTGTGGGTAGAGACAGGAGGGGACCTGAGGTTTGCCCCATAAAGAGCAGGATAGGGGCATCACTAAAGAGCTGGTTTGGAGGTCAGGTAGCACGAGGGAGCTGCCAGGGCATGTGAACCATTTTCAAGGTTATCAGGCCTCAGATGTGGGGACATCAGAGGCTCTTAAACCATAACCAGAAGTATTGCTGGAAAAGCTGGGCAGGTGAG
CCAGATGGAAACAGCACCTTCGGTTTTTGCCTCTTAGACCTGAGAGCCACCACTGTTTGTTTATTTATTTATTTAATTTATTTTTTTGAGACGGCGTCTCACTCTGTTGCTAGGCTGGAGTGCAGTGGCACGATCTCGGCTCACTGCAACCTCTGACTCCCTGGTTCAAGCGATTCTCCTGCTTCAGCCTCCCGAGTAGCTGGGATTACAGGCCACACGCCATCACGCCCAACTAATTTTTGTATTTTTAGTAGAGATGGGGTTTCACCATGTTGGCCAGGATGGTCTCGATCTCCTGACCTCGTGATTGCCCACCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAACCACCGAGCTTGTGTATTTATTTTTAATGATGGGGCTGGGGTAGGCTGTGCCTTGACGGGCTGTCCCAGGCGCCCCTGGAATTGATGCAGTGTCCGCCCGTGGCAGGTGGGAGGCCGCACCATGCTGCCCATTCGCTGGATGCCGCCCGAGAGCATCCTGTACCGTAAGTTCACCACCGAGAGCGACGTGTGGAGCTTCGGCGTGGTGCTCTGGGAGATCTTCACCTACGGCAAGCAGCCCTGGTACCAGCTCTCCAACACGGAGGTCAGCCCCGGCCCATGGTCACCCCTTGCTGGCCTCCCCGTCCCATGCCCCTTCAGGTTCCTTTTTCAGGGAACTCGGTTCCCCTTCTGCCCCTCTGCCACAGCCTGTTGGGGGGCCCTTTCCAGCGCCGTGCCCACACTGTGTCCCCTCCACTGTGGCCCTTTTCTTCTCTTCCTCCCTTATTCTTGCCTTCACCTACTGTCCTAAGCCCAGGCCCAGTTGGCCCCTGGGGGAACCTCAAAGTGCTTTGTACAAGGAGCCCAGACCCCCATCCCTAGCTGCATTTTATAGACCTAAGCAGGAATTATCAGAGTGGAAGGGACCAGCACGGGAAGAGGAACCCAGCACAAGAAGGCCCAACACTGCAGCAGGACGGCTGGAGGTTAGACTGTCAGAAGGACAGTCCTACCCCCTCCCCCTGCCCTCCTAGCTGGCCACAGCCAGAGCAGGCCCCAGGTGTTCTGTCTCCCAGAGCAGCTGCCCCCACCCCCTGCTTGGCTCGCAGCTGTCAGTTTCCATTTCTCCTCCTAATGCAGTCTGCTCCCCGGAGGCTGGTGGGGTGGGGGAGAGGGTTATAGATTTTAATTTTCTCAAGCACTGAGAGAAGAAATGGAATTAGTGCCGCCCATAACCCAAGTCCTCTAATAGGGAGGGGGGAAGAAGGGGAAAAGAGGCTCCAGGCCCCTTCTCCAATCACTCCCTGCCACCCTTTCTCCTTTGGATTCCTTGGCTGCTTTAGCAGTTCTTCCTAGAGTCTAACTTTGATCTTTCTTGCTGCAGTTTCTTTTTGGGAGAGCTAGTCAGTCCCACAGAGTGGTATCCCTAGAAGGGAGAAGTAAGGATTGCCCTCTTCTTTAAAATGAAAGCCAGCTATTTTTCACGCCCTTTAACTGCAGTTCTGCTCTATTTTCTTTTCTCTCTCTGGAGCTGAGAGTCAGAGGGCCCTTCTCCTCCTCCTTTCAGCCCCCAACACTAAGCTGATGGATTGATAAATACCTCAGCCCCTCGCCTTCCTCAACCCACCTGGCAAGTCTTCTTAGGATCTGATCCCAGTTTTCTGGAAGCAATCCTACCCCAGCCCAAGCTTCCCATAGTCGAGCCTTAATCCTTCTCACTTCTCAGTGTCAGAGCAGAAATGAATCCTGGGGTTGACTGTGTCCATTCGGGTTATTAGCAGCTAAGAAGCCCAGACGAGTAGTGTGAGCTGCCTTGGGAGCCTCAGTGAGGGCACTGGGACTGGCCTCACTCTCTTGCCCCCAGCCTAGTGGGCTTTCTCCTCTGTCTCTCCGGTGGCCCCAGGCAATCGACTGCATCACGCAGGGACGTGAGTTGGAGCGGCCACGTGCCTGCCCACCAGAGGTCTACGCCATCATGCGGGGCTGCTGGCAGCGGGAGCCCCAGCAACGCCACAGCATCAAGGATGTGCACGCCCCGCTGCAAGCCCTGGCCCAGGCACCTCCTGTCTACCTGGATGTCCTGGGCTAGGGGGCCGGCCCAGGGGCTGGGAGTGGTTAGCCGGAATACTGGGGCCTGCCCTCAGCATCCCCCATAGCTCCCAGCAGCCCCAGGGTGATCTCAAAGTATCTAATTCACCCTCAGCATGTGGGAAGGGACAGGTGGGGGCTGGGAGTAGAGGATGTTCCTGCTTCTCTAGGCAAGGTCCCGTCATAGCAATTATATTTATTATCCCTTGGCTGTGTCTCTTGCCAGTTATTGGGATGACGTCGTTCCAGGAGGGAGGCATTGGGATTCAGGTAGGGGGACAGCTCTCTGGGATCTTCCCCCACTCAGGTTCCCCTCAGCTGCCTACCCCTACTCCATGGACCTGTCACTCTCACCTTTGACTATAGTTTGGATCCCATTCCCATGGTCACCTGGCTCACCTGCTGGTAAGGCAGCCTCTGGTCAAACTTCCTAGACCTTGAGAGCCTAACTGTCAATCTTTGTAGTTCATGTTCAGGAAGGCTGGGCTATAGTGGAAGGGGTGGAAGTTAGATGTACTGGTAGGATGGGAGCGTTGATGGGGTGTCTTCCTTGTATTGGTGTGTCCGGGACAGAGCAAGCACGCAGCAGCAGATGAGAGAGAAACATGTGTGTGTGTGTGTGGGGTGATGGGGGGCAGGAAAGGGACGGAGCTGGACTAAGGATTGATGGAGGCAGGACCCCTTGTTCCTGCCCCTCTGTTACTCTTCTTAGCTCTAGGTGCTTTGATTAGCATCTGGAGGCCAGGTACTGTGTAAAGAGGCTATTTCCTAAGGACAAAGCCATCTCCCTGTCCCATTCTGTCCAAGGGAGTAGGTGAGGTCTCCCCTGTCCTCTGTCCCTTGGAACATGACTGGCCTTAACTGAGTGGTCTGAGGCTCTGTCAGCAGCACTGAGACTGGGCCCCATCATGTCAGGGCACCTGGGCCCTGTCTTCACCTTCCCTAACCCAAAGGCTTGCATTCCACCCAGAGCCAGGGAGGAGCAGCTTCCCCGCCACCCTCAGCCCTATCACTTCCAATCACCTGTCCAGTTCCTGCAATAATGCAAGCTTCCCATGGCTCCTCAGGGCTAATCACATGGCTGTCTCATGTCCCTGGGTGCCAGTCCCACCCCACCCCCACTCCCATGATTCAATCTGTGTCTTATCGCCCCTAGGCCTAGCCCTGTGGTGTGTCTGCCTCTTGTCCAGGCTGGTTAGTGCTAATGGAGGACTGACCCAGGGCTGCAGGCTGATCGATGGGGGAATTGGGGTGTGTGTGTGTGGTTGGTCCCTAAGGGCCAAGTTCACAGGCCTTCCTCTCCTGCCGGGTATGGGTGGGGCTGGTGCCGCATCACCCCTATGAGGGAGGGCACTTAAAGCAGATGGAGCCATCGGGAGGAAAGGGCTTGGGAACATGGTGAGGGATGCAGAGTTGGGGGATCAGATCCAACAGGTGAGCCCAGGGACAGATGCAGAGGGAGAGACAGTGCAGAGAGAGAGACAGGGACAGGACATACAGACATAGTGACATAGAGAGAGACTGCAGAGGGAGATATAAAGACTGAGACATGCAGATAGAGAGAAAGATGGAGACAGACACACAGACATAGCCGGACACACATGGAGAGAGAGGGTGAGACCAGCGCTGCAAACAGACACAGGTACGGCAGTGGCTCAATCAGAGGAAGTCTGGGAGGACATCATGGACTCCCCAGGGGGCTTTCTACCTCACTCACCCCCTCACCTGTGCCCTTTGAGCCTCTCTGCAGGGGCTAGGAGAGGATGGGACACCCAGACGTGGAGGCTCTGTGGGTAGAGACAGGAGGGGACCTGAGGTTTGCCCCATAAAGAGCAGGATAGGGGCATCACTAAAGAGCTGGTTTGGAGGTCAGGTAGCACGAGGGAGCTGCCAGGGCATGTGAACCATTTTCAAGGTTATCAGGCCTCAGATGTGGGGACATCAGAGGCTCTTAAACCATAACCAGAAGTATTGCTGGAAAAGCTGGGCAGGTGAG
Task1_train_1902
A change on Chromosome 1 affects gene KIRREL1 (kirre like nephrin family adhesion molecule 1). Identify whether the variant is neutral or disease-linked. Mention the disease if applicable.
Pathogenic; Nephrotic syndrome, type 23
AAAATGGACTCGGGAACCCCATTTCCCTTCTGGGAATTCACTTGTGGCCCTTCCTGCTTTCTTTCCGATGCCTCCGATGTGGGGCCCTCATGGACCTAGGGGCCCAGGCCTCCTGGCTCCCCACCCGAGGCTGCTCTCTCTGCCCAGGTCCTGAGTAACAGCAACCAGCTGCTGCTGAAGTCGGTGACTCAGGCAGACGCTGGCACCTACACCTGCCGGGCCATCGTGCCTCGAATCGGAGTGGCTGAGCGGGAGGTGCCGCTCTATGTGAACGGTGAGTGAGTGGCCTGAGAGGCAGCCGGGCCTGGGCGGGCTGGTACTGCAGTTTTTAACTGGTTCTGACTTGTGTCTTCTTGCTTGCAGGGCCCCCCATCATCTCCAGTGAGGCAGTGCAGTATGCTGTGAGGGGTGACGGTGGCAAGGTGGAGTGTTTCATTGGGAGCACACCACCCCCAGACCGCATAGTGAGTGGCGGACCTGCCTGCGGACAGCCAGCCCTCCCTGCTTCTTTGCCCAGGCCCAGCCTCCTCTCACTTCTGCTGGTTTTGCTCCTTCAACTTCCCTGTCCCGTTTCCATCCTCGAATCTTCTGCTTTCTGTCCCTCTGTCCCTTTACCTGCTCAAATCCCACCTCCTCCCTTACTTGTTATGTGTCCCTGAGCAGATCACTTAATGTTTTGAACCTCGGTTTATTCATCTATAAAACAGGGCCAGTAACTCCTACCTAATAGGGTTGCTGTGAGAAGTCATGGCAGCAACAGGTGTGAGATGCCTAGGCCAGCACTTGATTCATGTTAGTTCCCCACTCTCTCCCCTGGGCTAACACTTCCCCTCTTTTCTCCCTCATCTGCCTGTCATTGACCTCCTGCTCTTTTCTTTGCTCCCTCCCCTTCCCTGTCTCCTCCTCTGGCTCTTGCCATCTCTCTCCCTTCCCATCAGTTCTCCTACCTGCCTGGCCCACTCTTCTCTCCCTCCTCCTGCCTTCCTCCTACCAGCCCCTTGCCTTGCCACTCTCCTCCCTCCTTTCTCCTCTCCCCCACACCATGAGCCATTAATTCCTTCCGTGACTATTAACTGTCAAACCCCTCATCACATTTAATGACCATTTGGCTAACTCCAGGGCTGCCCAGGGACACTTCATTACCACGGCCGCCCGGGCAGCAGGCGGCTGGCCTCCCGGGGGGCTTTCCTTGCAGATCTAGGAGGATTGATCCCTGGAAAGGAGCCAGTTCTCGGCTGCTCCCCCTCCCTTAGGCTCCACTCTGAGGAAGGGGCCACTCAGGGGAATGGTCCGGCTGAGAAGTCAGGGATGGAGGGGTCCAGGAATACCCCGTTGTGGGTTCTGCCTATTATAAGTCTGTGGATCAGTCTCAGAGCCAGCCAGGCAGGTCGTGTGGGTTGGTTAAAGGTACGCCTAAAGATTGAGTTATGCTTAGTTAGAATCACAGACTATCAGAGCTGGAAGAAATCTTGAGCATTGTCTAGCCCTAGCCTGGTTCTGTCATTGTATAGATGAAGAAAATAAGGCCTAGAAAGGGACAGGGAGGCCACACAGGGGCTTGATGGGGAGAGGAGCCCAGCGTTCTTGAGGACAAATGCAGAACTTTTTCTACAACATCTGGGAGGATTCCCAGTGTCGGTTCAATGGATCCGCTGCATCCACATCACATGGGATCATGATGAAAATAGAGATTCTCCTCCTCCCTGGAGATTCCTATTTAGGACATAAGTCCCAAATATCTACATTTGAAAGAATCTCCCTAGGTAAATCTGATGTCAGCCATGCTTGGGAGCCACTGCTTCTCCTTGAGTGGAGTGTCAGTGCCGAGGGTGTGAGGTAGCAGGTGTGACTTAGGTTTGTTACAGGGAGGTGTTAGGCTGGGCTTGTGGGGCACACATGGCACATAGGGGTGAGGGTGCCTTGAGGGTGGATCAGGGGACACGTGGGCATGGGCTTCTGCCCCCTGCCCCTTTCTTACCTTCTTCCTTCCCTCTCCACCACAGGCATGGGCCTGGAAGGAGAACTTCTTGGAGGTGGGGACCCTGGAACGCTATACAGTGGAGAGGACCAACTCAGGCAGTGGGGTGCTATCCACGCTCACCATCAACAATGTCATGGAGGCCGACTTTCAGACTCACTACAACTGCACCGCCTGGAACAGCTTCGGGCCAGGCACAGCCATCATCCAGCTGGAAGAGCGAGGTGACTGGTAGTGCTGCCTGCCAGCTGGGGTGCAGAGCAGCCTGAGGATTCTGCTCCTTCTTTTCTCCAGGGGCAGGGCTCAGCTGCTCCCCTTCCCTTGGGCTCTGCTCTGAGGGAGGGGACACACAGAGGGATGTCCTGGCTGAGAGGTCAGGAGTGAAGGGGTTTGGGGCTACTCCCCTCTGATTCCTGCCTATTGTAAGAGTCTGTGCATCAGAGGGAAAGAACTCTCTGGGGCCTTCCCTCCAGAACCTGGCCTCCATGCTCAACTGGGGAAATGCCCTCACTTCGTTAAAGTGTACTGAGCATTTGCTATGTGCCAGGCTCTGCCCCAGGGGCTGCAGAAAGAGCTGTGAACAAGACACAGTCCCTGACCTCAAGAAACTTTCGGTGTAGTGGAGGAGGGACTTACAGAGTGGTAGTAAATTAATTCGGATGGAGAAGAATCATATGAACTGCAAAAGGGAATAACACGCCCATCTCATTGGGTGGACGTGAGGATTAAATTAGAGAATATTTACAAAATGCCTGGCATACAATAGGTGTTCAGTAAGTATGGGTTCCCCTACCTCTTCAAGAATTGTCACTCTGATAGCAGAAAAGTGTTCTCTCCTTTAAGGCACTTCTCACATGATAAAAGAGGTATTCCTTTGACTTTTTTGGAAGCTACCAAGTCCAAGGAGGAAAAGATAGCATTTTTTTGTTGTTGTTTTATTTTTTGAGAACTAACCATTTGACATAGGAGATGGAGAACCACATGGAAAATGACAGCATCCCATCACTTCAGTCTTTTTTTTTTTTTTTTTTTTGAGATGGAGTCTTGCTCTGTCGCCCAGGCTGGAGTGCAGTGGTGCGATCTTGGCTCATTGCAACCTGTGCCTTCCGGGTTCAAATGAGTCTCCTACCTCAACCTCCCGAGTAGCTGGGACTACAGGCACCCGCCACTACGCCCGGCTAATTTTTTGTATTTTTAGTGGAGACGGGTTTTCACCGTGTTAGCCAAGATGGTCTCGATCTCCTGACCTCATGATTCACCCACCTCGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCATGCCCGGCCTATCACTTCAGTCTTAACTAAGGATGCCAGCAAGGGGGTTGGGGGTGGGGAAGAATGGAGTAGATACAGTAACGTGGGGCTCCACAGGGAAAGATCTCAGAGGGGAAGAGCTATAAGCAGGATCTGGATTCAACTAGGGCTGCTAGGAAGACAGAGAAGGCTGGAAGCAGGATTCCTGAGCTCTTCCTCAGCTCTGGGAAGCAGAGGAAACCAAGGAAAACTGTTGGAGCCCTGAGTAGATAGGTGAACATTCGGCAGTCACAGTGGTATTATGGATGGCACAGTGGTGAAAGATGTCGGAACACGGGTGGCAGATTGGAGAGTTTGGAGACAGCTGACCTCAAAGAAGAGCGAGGGGCCAAGCATCATAGTCAGGTGGGCTGAAGGACAGGGATCGACAGACAACCAAGACCAGGGGCAAACTCCTGCCCCAGCTGCAGGGATGAGACATGACCATGATCTCCATTCTGATGGAGCTGGAGCACAGACCAAAATCCAACCACAATGCAGACCTTCCTCTCTAATCCAACCTTGACTTAAACCTAACACTGTCCCCAGGCTCAGTCAAAACTTAGCCCTGTACACAAGCCAAGGTTGCCTCTGTGGCTGTGGCCTAGCCTTTAGCCAGCACTGAGCTTAGCTCCCAGTATAACTCCAGCCTCACCCCTCCACCTTTCCTTCCCCATCGAAAGAGGTGTTACCTGTGGGCATCATAGCTGGGGCCACCATCGGCGCGAGCATCCTGCTCATCTTCTTCTTCATCGCCTTGGTATTCTTCCTCTACCGGCGCCGCAAAGGCAGTGA
AAAATGGACTCGGGAACCCCATTTCCCTTCTGGGAATTCACTTGTGGCCCTTCCTGCTTTCTTTCCGATGCCTCCGATGTGGGGCCCTCATGGACCTAGGGGCCCAGGCCTCCTGGCTCCCCACCCGAGGCTGCTCTCTCTGCCCAGGTCCTGAGTAACAGCAACCAGCTGCTGCTGAAGTCGGTGACTCAGGCAGACGCTGGCACCTACACCTGCCGGGCCATCGTGCCTCGAATCGGAGTGGCTGAGCGGGAGGTGCCGCTCTATGTGAACGGTGAGTGAGTGGCCTGAGAGGCAGCCGGGCCTGGGCGGGCTGGTACTGCAGTTTTTAACTGGTTCTGACTTGTGTCTTCTTGCTTGCAGGGCCCCCCATCATCTCCAGTGAGGCAGTGCAGTATGCTGTGAGGGGTGACGGTGGCAAGGTGGAGTGTTTCATTGGGAGCACACCACCCCCAGACCGCATAGTGAGTGGCGGACCTGCCTGCGGACAGCCAGCCCTCCCTGCTTCTTTGCCCAGGCCCAGCCTCCTCTCACTTCTGCTGGTTTTGCTCCTTCAACTTCCCTGTCCCGTTTCCATCCTCGAATCTTCTGCTTTCTGTCCCTCTGTCCCTTTACCTGCTCAAATCCCACCTCCTCCCTTACTTGTTATGTGTCCCTGAGCAGATCACTTAATGTTTTGAACCTCGGTTTATTCATCTATAAAACAGGGCCAGTAACTCCTACCTAATAGGGTTGCTGTGAGAAGTCATGGCAGCAACAGGTGTGAGATGCCTAGGCCAGCACTTGATTCATGTTAGTTCCCCACTCTCTCCCCTGGGCTAACACTTCCCCTCTTTTCTCCCTCATCTGCCTGTCATTGACCTCCTGCTCTTTTCTTTGCTCCCTCCCCTTCCCTGTCTCCTCCTCTGGCTCTTGCCATCTCTCTCCCTTCCCATCAGTTCTCCTACCTGCCTGGCCCACTCTTCTCTCCCTCCTCCTGCCTTCCTCCTACCAGCCCCTTGCCTTGCCACTCTCCTCCCTCCTTTCTCCTCTCCCCCACACCATGAGCCATTAATTCCTTCCGTGACTATTAACTGTCAAACCCCTCATCACATTTAATGACCATTTGGCTAACTCCAGGGCTGCCCAGGGACACTTCATTACCACGGCCGCCCGGGCAGCAGGCGGCTGGCCTCCCGGGGGGCTTTCCTTGCAGATCTAGGAGGATTGATCCCTGGAAAGGAGCCAGTTCTCGGCTGCTCCCCCTCCCTTAGGCTCCACTCTGAGGAAGGGGCCACTCAGGGGAATGGTCCGGCTGAGAAGTCAGGGATGGAGGGGTCCAGGAATACCCCGTTGTGGGTTCTGCCTATTATAAGTCTGTGGATCAGTCTCAGAGCCAGCCAGGCAGGTCGTGTGGGTTGGTTAAAGGTACGCCTAAAGATTGAGTTATGCTTAGTTAGAATCACAGACTATCAGAGCTGGAAGAAATCTTGAGCATTGTCTAGCCCTAGCCTGGTTCTGTCATTGTATAGATGAAGAAAATAAGGCCTAGAAAGGGACAGGGAGGCCACACAGGGGCTTGATGGGGAGAGGAGCCCAGCGTTCTTGAGGACAAATGCAGAACTTTTTCTACAACATCTGGGAGGATTCCCAGTGTCGGTTCAATGGATCCGCTGCATCCACATCACATGGGATCATGATGAAAATAGAGATTCTCCTCCTCCCTGGAGATTCCTATTTAGGACATAAGTCCCAAATATCTACATTTGAAAGAATCTCCCTAGGTAAATCTGATGTCAGCCATGCTTGGGAGCCACTGCTTCTCCTTGAGTGGAGTGTCAGTGCCGAGGGTGTGAGGTAGCAGGTGTGACTTAGGTTTGTTACAGGGAGGTGTTAGGCTGGGCTTGTGGGGCACACATGGCACATAGGGGTGAGGGTGCCTTGAGGGTGGATCAGGGGACACGTGGGCATGGGCTTCTGCCCCCTGCCCCTTTCTTACCTTCTTCCTTCCCTCTCCACCACAGGCATGGGCCTGGAAGGAGAACTTCTTGGAGGTGGGGACCCTGGAATGCTATACAGTGGAGAGGACCAACTCAGGCAGTGGGGTGCTATCCACGCTCACCATCAACAATGTCATGGAGGCCGACTTTCAGACTCACTACAACTGCACCGCCTGGAACAGCTTCGGGCCAGGCACAGCCATCATCCAGCTGGAAGAGCGAGGTGACTGGTAGTGCTGCCTGCCAGCTGGGGTGCAGAGCAGCCTGAGGATTCTGCTCCTTCTTTTCTCCAGGGGCAGGGCTCAGCTGCTCCCCTTCCCTTGGGCTCTGCTCTGAGGGAGGGGACACACAGAGGGATGTCCTGGCTGAGAGGTCAGGAGTGAAGGGGTTTGGGGCTACTCCCCTCTGATTCCTGCCTATTGTAAGAGTCTGTGCATCAGAGGGAAAGAACTCTCTGGGGCCTTCCCTCCAGAACCTGGCCTCCATGCTCAACTGGGGAAATGCCCTCACTTCGTTAAAGTGTACTGAGCATTTGCTATGTGCCAGGCTCTGCCCCAGGGGCTGCAGAAAGAGCTGTGAACAAGACACAGTCCCTGACCTCAAGAAACTTTCGGTGTAGTGGAGGAGGGACTTACAGAGTGGTAGTAAATTAATTCGGATGGAGAAGAATCATATGAACTGCAAAAGGGAATAACACGCCCATCTCATTGGGTGGACGTGAGGATTAAATTAGAGAATATTTACAAAATGCCTGGCATACAATAGGTGTTCAGTAAGTATGGGTTCCCCTACCTCTTCAAGAATTGTCACTCTGATAGCAGAAAAGTGTTCTCTCCTTTAAGGCACTTCTCACATGATAAAAGAGGTATTCCTTTGACTTTTTTGGAAGCTACCAAGTCCAAGGAGGAAAAGATAGCATTTTTTTGTTGTTGTTTTATTTTTTGAGAACTAACCATTTGACATAGGAGATGGAGAACCACATGGAAAATGACAGCATCCCATCACTTCAGTCTTTTTTTTTTTTTTTTTTTTGAGATGGAGTCTTGCTCTGTCGCCCAGGCTGGAGTGCAGTGGTGCGATCTTGGCTCATTGCAACCTGTGCCTTCCGGGTTCAAATGAGTCTCCTACCTCAACCTCCCGAGTAGCTGGGACTACAGGCACCCGCCACTACGCCCGGCTAATTTTTTGTATTTTTAGTGGAGACGGGTTTTCACCGTGTTAGCCAAGATGGTCTCGATCTCCTGACCTCATGATTCACCCACCTCGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCATGCCCGGCCTATCACTTCAGTCTTAACTAAGGATGCCAGCAAGGGGGTTGGGGGTGGGGAAGAATGGAGTAGATACAGTAACGTGGGGCTCCACAGGGAAAGATCTCAGAGGGGAAGAGCTATAAGCAGGATCTGGATTCAACTAGGGCTGCTAGGAAGACAGAGAAGGCTGGAAGCAGGATTCCTGAGCTCTTCCTCAGCTCTGGGAAGCAGAGGAAACCAAGGAAAACTGTTGGAGCCCTGAGTAGATAGGTGAACATTCGGCAGTCACAGTGGTATTATGGATGGCACAGTGGTGAAAGATGTCGGAACACGGGTGGCAGATTGGAGAGTTTGGAGACAGCTGACCTCAAAGAAGAGCGAGGGGCCAAGCATCATAGTCAGGTGGGCTGAAGGACAGGGATCGACAGACAACCAAGACCAGGGGCAAACTCCTGCCCCAGCTGCAGGGATGAGACATGACCATGATCTCCATTCTGATGGAGCTGGAGCACAGACCAAAATCCAACCACAATGCAGACCTTCCTCTCTAATCCAACCTTGACTTAAACCTAACACTGTCCCCAGGCTCAGTCAAAACTTAGCCCTGTACACAAGCCAAGGTTGCCTCTGTGGCTGTGGCCTAGCCTTTAGCCAGCACTGAGCTTAGCTCCCAGTATAACTCCAGCCTCACCCCTCCACCTTTCCTTCCCCATCGAAAGAGGTGTTACCTGTGGGCATCATAGCTGGGGCCACCATCGGCGCGAGCATCCTGCTCATCTTCTTCTTCATCGCCTTGGTATTCTTCCTCTACCGGCGCCGCAAAGGCAGTGA
Task1_train_1903
This genomic variant is located on Chromosome 1, within the KIRREL1, LOC126805884 (kirre like nephrin family adhesion molecule 1| BRD4-independent group 4 enhancer GRCh37_chr1:158063276-158064475) gene. Can you determine its pathogenicity and name any linked disease?
Pathogenic; Nephrotic syndrome, type 23
GTGAAGGGGTTTGGGGCTACTCCCCTCTGATTCCTGCCTATTGTAAGAGTCTGTGCATCAGAGGGAAAGAACTCTCTGGGGCCTTCCCTCCAGAACCTGGCCTCCATGCTCAACTGGGGAAATGCCCTCACTTCGTTAAAGTGTACTGAGCATTTGCTATGTGCCAGGCTCTGCCCCAGGGGCTGCAGAAAGAGCTGTGAACAAGACACAGTCCCTGACCTCAAGAAACTTTCGGTGTAGTGGAGGAGGGACTTACAGAGTGGTAGTAAATTAATTCGGATGGAGAAGAATCATATGAACTGCAAAAGGGAATAACACGCCCATCTCATTGGGTGGACGTGAGGATTAAATTAGAGAATATTTACAAAATGCCTGGCATACAATAGGTGTTCAGTAAGTATGGGTTCCCCTACCTCTTCAAGAATTGTCACTCTGATAGCAGAAAAGTGTTCTCTCCTTTAAGGCACTTCTCACATGATAAAAGAGGTATTCCTTTGACTTTTTTGGAAGCTACCAAGTCCAAGGAGGAAAAGATAGCATTTTTTTGTTGTTGTTTTATTTTTTGAGAACTAACCATTTGACATAGGAGATGGAGAACCACATGGAAAATGACAGCATCCCATCACTTCAGTCTTTTTTTTTTTTTTTTTTTTGAGATGGAGTCTTGCTCTGTCGCCCAGGCTGGAGTGCAGTGGTGCGATCTTGGCTCATTGCAACCTGTGCCTTCCGGGTTCAAATGAGTCTCCTACCTCAACCTCCCGAGTAGCTGGGACTACAGGCACCCGCCACTACGCCCGGCTAATTTTTTGTATTTTTAGTGGAGACGGGTTTTCACCGTGTTAGCCAAGATGGTCTCGATCTCCTGACCTCATGATTCACCCACCTCGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCATGCCCGGCCTATCACTTCAGTCTTAACTAAGGATGCCAGCAAGGGGGTTGGGGGTGGGGAAGAATGGAGTAGATACAGTAACGTGGGGCTCCACAGGGAAAGATCTCAGAGGGGAAGAGCTATAAGCAGGATCTGGATTCAACTAGGGCTGCTAGGAAGACAGAGAAGGCTGGAAGCAGGATTCCTGAGCTCTTCCTCAGCTCTGGGAAGCAGAGGAAACCAAGGAAAACTGTTGGAGCCCTGAGTAGATAGGTGAACATTCGGCAGTCACAGTGGTATTATGGATGGCACAGTGGTGAAAGATGTCGGAACACGGGTGGCAGATTGGAGAGTTTGGAGACAGCTGACCTCAAAGAAGAGCGAGGGGCCAAGCATCATAGTCAGGTGGGCTGAAGGACAGGGATCGACAGACAACCAAGACCAGGGGCAAACTCCTGCCCCAGCTGCAGGGATGAGACATGACCATGATCTCCATTCTGATGGAGCTGGAGCACAGACCAAAATCCAACCACAATGCAGACCTTCCTCTCTAATCCAACCTTGACTTAAACCTAACACTGTCCCCAGGCTCAGTCAAAACTTAGCCCTGTACACAAGCCAAGGTTGCCTCTGTGGCTGTGGCCTAGCCTTTAGCCAGCACTGAGCTTAGCTCCCAGTATAACTCCAGCCTCACCCCTCCACCTTTCCTTCCCCATCGAAAGAGGTGTTACCTGTGGGCATCATAGCTGGGGCCACCATCGGCGCGAGCATCCTGCTCATCTTCTTCTTCATCGCCTTGGTATTCTTCCTCTACCGGCGCCGCAAAGGCAGTGAGTATGGGCCCTGTGCAGCCCACAGCCTTCCCCTGGCTCTTCCAGGGCCATGACAGGCAGTGCTTGGGGTGGATGGGAGGTTGGCCCTTGAGCTCCAGCCCAGAGGGAGCCAGAAGCAGCCGCTGCAGAGACCAGCAGGAAGCACTTGTTCCAGGCTGCCTCTCCCGTCCCAGGTCGCAAAGACGTGACCCTGAGGAAGCTGGATATCAAGGTGGAGACAGTGAACCGAGAGCCACTTACGATGCATTCTGACCGGGAGGATGACACCGCCAGCGTCTCCACAGCAACCCGGGTCATGAAGGCCATCTACTCGGTGAGGGTCCTGCTCCTCTCTGGCCTCCTGCCTTCTCCACCCTCTGAGGACCAGCTCCATCCCAGATCTCTAATAACCGCGGTCATTCTCTCCTTCCTCAGTCGGTCTTCCCTGGTCCTGCCACACACACTCTCCCACACTCACACACATTCTCTCACACACGCCCCAGGCTAGTTTCCTCCAGCAGAGGATAGGCAGCTGGGATTGTCCAAAGACTTCCTTTGCCCCACAGTGTGTGAAAGTTGGAAGCCCCCAGAGGCTTTCTGGTCCATCTGCCTCATTGCTGAGATGAGGAAACAGCCCTGGAGAGGGGCAGTGACATATACAAGGTCACATTACATGTTAGCAACCAAACTAGTGCTCGAACCAAGGTCTCTGGCCTCTTCCCACCACATCCCAGAGCCTCTGCTGAGAGGACCAGAACTCAAGTCTGCCCTTGACCTCAGACCCCACCCATGAGCAGGTGGCCTCTGAGCGTGGGGAGGGGTTGGTGAGGGGCGAAAAGAGCAGGGCTTCCGTCTGCTGACGTCCCACTCCTGCTGCTCCACAGTCGTTTAAGGATGATGTGGATCTGAAGCAGGACCTGCGCTGCGACACCATCGACACCCGGGAGGAGTATGAGATGAAGGTGGGAAAGGGGGAAGGGGCCAGGGCATGAGGGCTGGTGGGCCAGTGGGTTTCTGAGGTCCTGTAGCGGGGAGGTGAGGTGAGGACAGACTTGGGGAGGAGTGGTTGGGAGGGTTTTTGAAGGAGCAGAGGAGGTGGAATGCTAGATGGGGACATAGGGAGAGCTGGAGGAAGAGGCCCAGAAAGCCATGGTGAGACTTGATCCCCACCCAAGAGGGAACACTGCCTCCATCCTCTTCTCTCATTGCCCCCAGGACCCCACCAATGGCTACTACAACGTGCGTGCCCATGAAGACCGCCCGTCTTCCAGGGCAGTGCTCTATGCTGACTACCGTGCCCCTGGCCCTGCCCGCTTCGACGGCCGCCCCTCATCCCGTCTCTCCCACTCCAGCGGCTATGCCCAGCTCAACACCTATAGCCGGGGCCCTGCCTCTGACTATGGCCCTGAGCCCACACCCCCTGGCCCTGCTGCCCCAGCTGGCACTGACACAACCAGCCAGCTGTCCTACGAGAACTATGAGAAGTTCAACTCCCATCCCTTCCCTGGGGCAGCTGGGTACCCCACCTACCGACTGGGCTACCCCCAGGCCCCACCCTCTGGCCTGGAGCGGACCCCATATGAGGCGTATGACCCCATTGGCAAGTACGCCACAGCCACTCGATTCTCCTACACCTCCCAGCACTCGGACTACGGCCAGCGATTCCAGCAGCGCATGCAGACTCACGTGTAGGGGCCAGAGCCTGGCTGGGGCATCTCTGCGGGGCAGAGGAGAAGGCTTTCACAGCTGTTCCCTGATATTCAGGGGCATTGCTCATTGCTCCCTTCTCGGACCAGCCTTCTTCCTCCCACCATGGCAGGTGGGGAGCAGGTCTCCCAGAAACACCCCGTCCCGAGGATGGTGCTCTGTGCATGCCCCAGCCTCCTGGGCCTGCCCTTCCCTCTTCTTCGGGAGGATGTGTCTCTTCTGACCTGCACTCTTGCCTGACCCTAGAATGGGGACAGGGAAAGTGAAGGTTAGGGAAAGCAGAGGGGGGCACTTTTTAGCATTCCCTTTCTATCCCACCCCTCTGATCTCCCATAAGTGGAAATGGGGGTACCCAGGGATGGGCAGGCTTTGGCCTAGGGACATGAAGTATGGGAGTGGGTGGCTGTGGCACAGACAGGTGGAAAACGGGATAGCCTGGCCAGTCCCTCTGTTGTCTGCATTCGTGCCCTGGGTGCCTCTCTCCTTCCTCAGGGTACTGCAGAAGGGAGCGAACAGGGTACTGTTCGCTCTTGTCTACAGAACAGCCCTGGCACTGCATTCAAATCCAGTCTTCATTCAGCTGGGATCAAAATGCCAGTCACCTTGGCTACCCACTGTGGACAGCTGTCTGTCAGCATGCAGAGGGATCCAGGAATCCCCCCGGCAGCACGGC
GTGAAGGGGTTTGGGGCTACTCCCCTCTGATTCCTGCCTATTGTAAGAGTCTGTGCATCAGAGGGAAAGAACTCTCTGGGGCCTTCCCTCCAGAACCTGGCCTCCATGCTCAACTGGGGAAATGCCCTCACTTCGTTAAAGTGTACTGAGCATTTGCTATGTGCCAGGCTCTGCCCCAGGGGCTGCAGAAAGAGCTGTGAACAAGACACAGTCCCTGACCTCAAGAAACTTTCGGTGTAGTGGAGGAGGGACTTACAGAGTGGTAGTAAATTAATTCGGATGGAGAAGAATCATATGAACTGCAAAAGGGAATAACACGCCCATCTCATTGGGTGGACGTGAGGATTAAATTAGAGAATATTTACAAAATGCCTGGCATACAATAGGTGTTCAGTAAGTATGGGTTCCCCTACCTCTTCAAGAATTGTCACTCTGATAGCAGAAAAGTGTTCTCTCCTTTAAGGCACTTCTCACATGATAAAAGAGGTATTCCTTTGACTTTTTTGGAAGCTACCAAGTCCAAGGAGGAAAAGATAGCATTTTTTTGTTGTTGTTTTATTTTTTGAGAACTAACCATTTGACATAGGAGATGGAGAACCACATGGAAAATGACAGCATCCCATCACTTCAGTCTTTTTTTTTTTTTTTTTTTTGAGATGGAGTCTTGCTCTGTCGCCCAGGCTGGAGTGCAGTGGTGCGATCTTGGCTCATTGCAACCTGTGCCTTCCGGGTTCAAATGAGTCTCCTACCTCAACCTCCCGAGTAGCTGGGACTACAGGCACCCGCCACTACGCCCGGCTAATTTTTTGTATTTTTAGTGGAGACGGGTTTTCACCGTGTTAGCCAAGATGGTCTCGATCTCCTGACCTCATGATTCACCCACCTCGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCATGCCCGGCCTATCACTTCAGTCTTAACTAAGGATGCCAGCAAGGGGGTTGGGGGTGGGGAAGAATGGAGTAGATACAGTAACGTGGGGCTCCACAGGGAAAGATCTCAGAGGGGAAGAGCTATAAGCAGGATCTGGATTCAACTAGGGCTGCTAGGAAGACAGAGAAGGCTGGAAGCAGGATTCCTGAGCTCTTCCTCAGCTCTGGGAAGCAGAGGAAACCAAGGAAAACTGTTGGAGCCCTGAGTAGATAGGTGAACATTCGGCAGTCACAGTGGTATTATGGATGGCACAGTGGTGAAAGATGTCGGAACACGGGTGGCAGATTGGAGAGTTTGGAGACAGCTGACCTCAAAGAAGAGCGAGGGGCCAAGCATCATAGTCAGGTGGGCTGAAGGACAGGGATCGACAGACAACCAAGACCAGGGGCAAACTCCTGCCCCAGCTGCAGGGATGAGACATGACCATGATCTCCATTCTGATGGAGCTGGAGCACAGACCAAAATCCAACCACAATGCAGACCTTCCTCTCTAATCCAACCTTGACTTAAACCTAACACTGTCCCCAGGCTCAGTCAAAACTTAGCCCTGTACACAAGCCAAGGTTGCCTCTGTGGCTGTGGCCTAGCCTTTAGCCAGCACTGAGCTTAGCTCCCAGTATAACTCCAGCCTCACCCCTCCACCTTTCCTTCCCCATCGAAAGAGGTGTTACCTGTGGGCATCATAGCTGGGGCCACCATCGGCGCGAGCATCCTGCTCATCTTCTTCTTCATCGCCTTGGTATTCTTCCTCTACCGGCGCCGCAAAGGCAGTGAGTATGGGCCCTGTGCAGCCCACAGCCTTCCCCTGGCTCTTCCAGGGCCATGACAGGCAGTGCTTGGGGTGGATGGGAGGTTGGCCCTTGAGCTCCAGCCCAGAGGGAGCCAGAAGCAGCCGCTGCAGAGACCAGCAGGAAGCACTTGTTCCAGGCTGCCTCTCCCGTCCCAGGTCGCAAAGACGTGACCCTGAGGAAGCTGGATATCAAGGTGGAGACAGTGAACCGAGAGCCACTTACGATGCATTCTGACCGGGAGGATGACACCGCCAGCGTCTCCACAGCAACCCGGGTCATGAAGGCCATCTACTTGGTGAGGGTCCTGCTCCTCTCTGGCCTCCTGCCTTCTCCACCCTCTGAGGACCAGCTCCATCCCAGATCTCTAATAACCGCGGTCATTCTCTCCTTCCTCAGTCGGTCTTCCCTGGTCCTGCCACACACACTCTCCCACACTCACACACATTCTCTCACACACGCCCCAGGCTAGTTTCCTCCAGCAGAGGATAGGCAGCTGGGATTGTCCAAAGACTTCCTTTGCCCCACAGTGTGTGAAAGTTGGAAGCCCCCAGAGGCTTTCTGGTCCATCTGCCTCATTGCTGAGATGAGGAAACAGCCCTGGAGAGGGGCAGTGACATATACAAGGTCACATTACATGTTAGCAACCAAACTAGTGCTCGAACCAAGGTCTCTGGCCTCTTCCCACCACATCCCAGAGCCTCTGCTGAGAGGACCAGAACTCAAGTCTGCCCTTGACCTCAGACCCCACCCATGAGCAGGTGGCCTCTGAGCGTGGGGAGGGGTTGGTGAGGGGCGAAAAGAGCAGGGCTTCCGTCTGCTGACGTCCCACTCCTGCTGCTCCACAGTCGTTTAAGGATGATGTGGATCTGAAGCAGGACCTGCGCTGCGACACCATCGACACCCGGGAGGAGTATGAGATGAAGGTGGGAAAGGGGGAAGGGGCCAGGGCATGAGGGCTGGTGGGCCAGTGGGTTTCTGAGGTCCTGTAGCGGGGAGGTGAGGTGAGGACAGACTTGGGGAGGAGTGGTTGGGAGGGTTTTTGAAGGAGCAGAGGAGGTGGAATGCTAGATGGGGACATAGGGAGAGCTGGAGGAAGAGGCCCAGAAAGCCATGGTGAGACTTGATCCCCACCCAAGAGGGAACACTGCCTCCATCCTCTTCTCTCATTGCCCCCAGGACCCCACCAATGGCTACTACAACGTGCGTGCCCATGAAGACCGCCCGTCTTCCAGGGCAGTGCTCTATGCTGACTACCGTGCCCCTGGCCCTGCCCGCTTCGACGGCCGCCCCTCATCCCGTCTCTCCCACTCCAGCGGCTATGCCCAGCTCAACACCTATAGCCGGGGCCCTGCCTCTGACTATGGCCCTGAGCCCACACCCCCTGGCCCTGCTGCCCCAGCTGGCACTGACACAACCAGCCAGCTGTCCTACGAGAACTATGAGAAGTTCAACTCCCATCCCTTCCCTGGGGCAGCTGGGTACCCCACCTACCGACTGGGCTACCCCCAGGCCCCACCCTCTGGCCTGGAGCGGACCCCATATGAGGCGTATGACCCCATTGGCAAGTACGCCACAGCCACTCGATTCTCCTACACCTCCCAGCACTCGGACTACGGCCAGCGATTCCAGCAGCGCATGCAGACTCACGTGTAGGGGCCAGAGCCTGGCTGGGGCATCTCTGCGGGGCAGAGGAGAAGGCTTTCACAGCTGTTCCCTGATATTCAGGGGCATTGCTCATTGCTCCCTTCTCGGACCAGCCTTCTTCCTCCCACCATGGCAGGTGGGGAGCAGGTCTCCCAGAAACACCCCGTCCCGAGGATGGTGCTCTGTGCATGCCCCAGCCTCCTGGGCCTGCCCTTCCCTCTTCTTCGGGAGGATGTGTCTCTTCTGACCTGCACTCTTGCCTGACCCTAGAATGGGGACAGGGAAAGTGAAGGTTAGGGAAAGCAGAGGGGGGCACTTTTTAGCATTCCCTTTCTATCCCACCCCTCTGATCTCCCATAAGTGGAAATGGGGGTACCCAGGGATGGGCAGGCTTTGGCCTAGGGACATGAAGTATGGGAGTGGGTGGCTGTGGCACAGACAGGTGGAAAACGGGATAGCCTGGCCAGTCCCTCTGTTGTCTGCATTCGTGCCCTGGGTGCCTCTCTCCTTCCTCAGGGTACTGCAGAAGGGAGCGAACAGGGTACTGTTCGCTCTTGTCTACAGAACAGCCCTGGCACTGCATTCAAATCCAGTCTTCATTCAGCTGGGATCAAAATGCCAGTCACCTTGGCTACCCACTGTGGACAGCTGTCTGTCAGCATGCAGAGGGATCCAGGAATCCCCCCGGCAGCACGGC
Task1_train_1904
Gene SPTA1 (spectrin alpha, erythrocytic 1) on Chromosome 1 is impacted by this variant. Evaluate whether it is clinically benign or pathogenic and name the disorder if relevant.
Pathogenic; Elliptocytosis 2
CTCTTCACCCCAAGAAACACGAAGATATCCCATCATTTTTTATGCCTCAACCCCAGGGGAAGATAAGAGGCAGGAGTCCTGGGTATAAGCCAGCCACTCAAGGTTTATATCTCATATAATCAGTTAAAACCCTGATAACATAATCAATAATTGGAAACTTCTTCAAGGGCCCATACATATACCTTCGTTTCTTCGTGGGCAGAATGACCCATGGTAAATCGTTCTTCCCTTGTTTTTTCCAGTTCAGACATGAGTCTTGATTTTGTTTGCACCTCTGCTTCAAGGGATTGATGCTTCTGATATTTCCCCTAAAGTTTAGAAATCAGAGTTTTTGTCTAATGAAGCACAGTCTTCATGGGAAATGTTCACTCTATGTAAAGCCACCAAACACAGGTTCTCAAAGGGTCCCAGACTCAGAGGCCATAAAGAGTATTTTCCTGTCCCCACTGGCTTTAGGAAGTTTTCAGTAAATACTGTCCTGAGCTATGCTGAGCCTTATGATCTATGCCGAGCCTTATTTTAAAGGCTCAATAGACTGCCATAGGAATAAAAGAGTGTAACACACAGTGTCCTTCCTCATCAGAAAAGAGGAATAACTGATTTTTTTTTGGAAGTAGAGCACAATGAGAAAGATGATAGTTATAATAATGGTTTTTAAAAAAAAAAATTGAGAGTTTTTTTTGCATGCTGTGCCTGTTCTTGTAATCTATAAATTGATCCATTCAATATAGCACATTATTTTGCTCTTGTTCTAGGTGTTTCCTGTCCAACATCAATTGCTTCTGATTATGACAACACCACATGCTATAATTTTAGGTGAATAGAAAGGGGTAGGCACTTTCACCAAATTTCTTCTACTGAAACCTCTCTTTTGAAGTTAAGAGCCATGAATAGCAATTTAGGGAAGAAAAAAAAAAAACTCTGGTTAACTCATCTCTCTGAGAAGAGTAGAGAACAGGTATCACATGCTATAATTTTAGGTGATCAGAAACGCGTAGGAGCTTTCACCAAACTTCTACTGAAACCTCTCATTAGAACTTGAGACCCATGAACAACATTTTAGGAAAAACTTAAGAGCCATGAATAGCAATTGAGTTAACCAGGTTAACTAAATTGGATTTTAGTTAACCTGGTTAACTCTTATATTTCTGAGAAGAGTGGAGGACAGTTGCTTCAGAAGCATTGATGACTCTTCACCCTATTTCCCTTCTTAATGTCCCAAAATATCAAAAATCACATGGTTTGTCAGAAATTTCTTGAATTTGCAGTTGCTGTTTTGCCTGTAGGTCAATTTCAGATGAGTATTGTAACCATCAAATTCTATACAGAATAAATCTCCTTTGCAAATAACACCCCGATGTTTATGAAGATGAAGACATGGACTATTTAGAGGCAGAATTACTGTTTCTAACAGACAGTCTAATTTTTCCATTACATCACTCCCACTACAATTAACCAGATATACACTTACATTACCATAATATTTGTGCTGGATCTGAAAAAAAATTGATGTAATTTTTTACTTTTGGCATTGATGAATGCTTCACCATGAAAATATGTAAAGTATCCTATGCCCTTATCAATAAGCAATATCCTTGGTTAATGATTAAAAAATGTATATTCTGAATGGAAGTTCATTGTAAAAAACAGTTCTGTGCTTTCAACAACTGAAAAACTGCTGCTTTTTGTTTGATTCTTATTTTCTCAGTCTCACCTCTCCAACTTCATAAGGGAAAATGCACTTTTAGATTTTCTATTAATTTATTTCTTTAACTTCCCACTCCACTGACTTATTTTTGTTTCTAAACGGAATCTAATTGTACCCACACATACCCATTAACATTAACATAAAGAAAAACCTATTTCCTTCTCTAGAGATCTTAGGGTCTGCTCTGAGGCAATCAAGAGAACTGAGTGACCTGTATATTAGTTGGGTCTTCATAGCTCTTATCGGTTAAGATATTGACTTTCTCCATGATCCACTTCCCCAGATCATCTGCATCTCGCTTGAAAACTTGTAAGTGATAGGAATCCTCAAGCTTCTGACCCCTCTCAGCGACCCGCTCCTTGAAACTTTGATACCGAGTCAACACTTCCTGACGCCTCTCCTGGATCTCTTCTGCTGTTTCCAAAACCTTTGGCCCACTGCTCTCCACAACCTGCAAGTTAAAAAGATTCTGTTACTTGCTAGTTCTCAAATATTTAACATGTTGCCCCGCTTATATGTGTCAAGGTGTTTACTCATGTTGGACCTATATTCAGATATCCTGAAGTTTCTAGGGACTATTGTCAGAAGAGCTGTAGTATATTTACGTAATTTTTAACCAGACATAGCTTCTGTTTAGGTTAAAAATTCTTGATTATCCAGAAGACTCTCCTCACTTTTTACATAAATTTGTGCTAGCATTTAAGTTCTATAGATATAATTATATTGGACTGATCATGGAGCAAGTTTAAATCAGCAAAATCACATAATTTCAGATAGATAAAAAGAAATATAATGTTATTGCTTTCAAGGGCTAAAAAGGTGTTGAGAAGTGCTTATTATTTTTAACTTAATTTAATAAATAATTAAGAATGGCTTGCAATTAATTTAGTTAATGATATATGCAACAGTTTGAAAATTTTGTTTCCTTCATACTTAAAAATAAATCTCATATATTTACTCTTTACTTGCTTTACTCACAAACACTATAAATCAAAAGTTCAGCTATCTTCTGCCCAATTGTCACAAATTTCAAATTATTAGCATGTCTGCAATTTATTTTTGAAATATAAAAACTTTTACTCTAAAACAATATATAAGTATCCTTTTCCCAGAGTGGGAGCCAACCTGTTTGTGACAATATCCAGCAAAATCACCATAGGGTTCACCTTCATTCTTCTGGATATGGATACCATTTTCCCTAGCTTACCTCAGCCAAAATGTTTAATATAGAGTTTAAATTTTAATCTCCCATTATTCCTCCTAAGTATAATTGCTACTCTGTGAATTGCCATTACTGGCATGGCTATAGAATTAGATCATTACATGGAGACTCACGTTGTTACTAGGTGTTATTTAGCTTCAATCTCCCTACTTATTCTCTCTGGGAACCGACTTAAGTCATTACTGGGTCTTGGTGCTGCACAGACATAAGCTCAAGGTTATTGTTCACAAAAAATAGTTAAAAGTAAAATTATCTATTTGTTAAAAGCCAAATAATTATTAATGTTCCTGGGAAAGATAGTATAGAAAGTTTAAAGGAAACATCTTTCCTAATAATATTAATGACAAATTGCATGGAAGAGAAATATGTACTTACGGTTTCCTTTGGAAATTGCTCCATTTTTCCTAAAGGTTTAGAACCTGGCAAGATAAAATGTGTCAGAGAGAGAGAGAGAGAGAAATAATTCAAATGGAACTGTCCAGTCGAATTCAAATAGAAATATAGAAACGTTAAGTATGTGGGGGAAAAAAAAAAACCTCTTGCTTGGTCCTAGAATCCCATCAGCCATACACAATCGACATTATCTTTAGAAGACATACTCAGCTGAGGCAACTGCTAAGTTTTACAGATACTGGGTGACTCAGCAGTTTTGGGAGGCTCTGGCTTTCAAAGTTACTCAATAAGACTTAAAAAATGAAAGTAAGGTTTTTGGATGAAAAATTAGAAAAAAAACCCCATATATTTATAGGAAATACAGCTCAACAACTTCATCCAACTCAACTGCAGATTTTTCACAGTCTTTAAGTCAACGAATTATCCTGGCTTTTTCTAGAGAGTCTTTCACAAAATAAGATTTTATTCCTAACCTCAACAATTTGGTCTTTAAAAATCTGATTTAGTTGTACTCTTAATCATTTAAATGGAAGGAACAAAAAAAGTTATATGATGTGTTCATTAATATTTTGTAAAACAAAAATTAGGATACCTTATTTGACAAACCAATGATGTCACAAAAAAGTTGAAAATATGGCTGACTTCTGATATATATGGTATAAATCATCCTACTGTATGTATTAATTTTAATGGAGAACAAAAAGAGGTAGACTTTTTCCATAGGCATAGTTATTTTAGACTAACTTACAAAAATGAAACAAACAAGCAAAAAG
CTCTTCACCCCAAGAAACACGAAGATATCCCATCATTTTTTATGCCTCAACCCCAGGGGAAGATAAGAGGCAGGAGTCCTGGGTATAAGCCAGCCACTCAAGGTTTATATCTCATATAATCAGTTAAAACCCTGATAACATAATCAATAATTGGAAACTTCTTCAAGGGCCCATACATATACCTTCGTTTCTTCGTGGGCAGAATGACCCATGGTAAATCGTTCTTCCCTTGTTTTTTCCAGTTCAGACATGAGTCTTGATTTTGTTTGCACCTCTGCTTCAAGGGATTGATGCTTCTGATATTTCCCCTAAAGTTTAGAAATCAGAGTTTTTGTCTAATGAAGCACAGTCTTCATGGGAAATGTTCACTCTATGTAAAGCCACCAAACACAGGTTCTCAAAGGGTCCCAGACTCAGAGGCCATAAAGAGTATTTTCCTGTCCCCACTGGCTTTAGGAAGTTTTCAGTAAATACTGTCCTGAGCTATGCTGAGCCTTATGATCTATGCCGAGCCTTATTTTAAAGGCTCAATAGACTGCCATAGGAATAAAAGAGTGTAACACACAGTGTCCTTCCTCATCAGAAAAGAGGAATAACTGATTTTTTTTTGGAAGTAGAGCACAATGAGAAAGATGATAGTTATAATAATGGTTTTTAAAAAAAAAAATTGAGAGTTTTTTTTGCATGCTGTGCCTGTTCTTGTAATCTATAAATTGATCCATTCAATATAGCACATTATTTTGCTCTTGTTCTAGGTGTTTCCTGTCCAACATCAATTGCTTCTGATTATGACAACACCACATGCTATAATTTTAGGTGAATAGAAAGGGGTAGGCACTTTCACCAAATTTCTTCTACTGAAACCTCTCTTTTGAAGTTAAGAGCCATGAATAGCAATTTAGGGAAGAAAAAAAAAAAACTCTGGTTAACTCATCTCTCTGAGAAGAGTAGAGAACAGGTATCACATGCTATAATTTTAGGTGATCAGAAACGCGTAGGAGCTTTCACCAAACTTCTACTGAAACCTCTCATTAGAACTTGAGACCCATGAACAACATTTTAGGAAAAACTTAAGAGCCATGAATAGCAATTGAGTTAACCAGGTTAACTAAATTGGATTTTAGTTAACCTGGTTAACTCTTATATTTCTGAGAAGAGTGGAGGACAGTTGCTTCAGAAGCATTGATGACTCTTCACCCTATTTCCCTTCTTAATGTCCCAAAATATCAAAAATCACATGGTTTGTCAGAAATTTCTTGAATTTGCAGTTGCTGTTTTGCCTGTAGGTCAATTTCAGATGAGTATTGTAACCATCAAATTCTATACAGAATAAATCTCCTTTGCAAATAACACCCCGATGTTTATGAAGATGAAGACATGGACTATTTAGAGGCAGAATTACTGTTTCTAACAGACAGTCTAATTTTTCCATTACATCACTCCCACTACAATTAACCAGATATACACTTACATTACCATAATATTTGTGCTGGATCTGAAAAAAAATTGATGTAATTTTTTACTTTTGGCATTGATGAATGCTTCACCATGAAAATATGTAAAGTATCCTATGCCCTTATCAATAAGCAATATCCTTGGTTAATGATTAAAAAATGTATATTCTGAATGGAAGTTCATTGTAAAAAACAGTTCTGTGCTTTCAACAACTGAAAAACTGCTGCTTTTTGTTTGATTCTTATTTTCTCAGTCTCACCTCTCCAACTTCATAAGGGAAAATGCACTTTTAGATTTTCTATTAATTTATTTCTTTAACTTCCCACTCCACTGACTTATTTTTGTTTCTAAACGGAATCTAATTGTACCCACACATACCCATTAACATTAACATAAAGAAAAACCTATTTCCTTCTCTAGAGATCTTAGGGTCTGCTCTGAGGCAATCAAGAGAACTGAGTGACCTGTATATTAGTTGGGTCTTCATAGCTCTTATCGGTTAAGATATTGACTTTCTCCATGATCCACTTCCCCAGATCATCTGCATCTCGCTTGAAAACTTGTAAGTGATAGGAATCCTCAAGCTTCTGACCACTCTCAGCGACCCGCTCCTTGAAACTTTGATACCGAGTCAACACTTCCTGACGCCTCTCCTGGATCTCTTCTGCTGTTTCCAAAACCTTTGGCCCACTGCTCTCCACAACCTGCAAGTTAAAAAGATTCTGTTACTTGCTAGTTCTCAAATATTTAACATGTTGCCCCGCTTATATGTGTCAAGGTGTTTACTCATGTTGGACCTATATTCAGATATCCTGAAGTTTCTAGGGACTATTGTCAGAAGAGCTGTAGTATATTTACGTAATTTTTAACCAGACATAGCTTCTGTTTAGGTTAAAAATTCTTGATTATCCAGAAGACTCTCCTCACTTTTTACATAAATTTGTGCTAGCATTTAAGTTCTATAGATATAATTATATTGGACTGATCATGGAGCAAGTTTAAATCAGCAAAATCACATAATTTCAGATAGATAAAAAGAAATATAATGTTATTGCTTTCAAGGGCTAAAAAGGTGTTGAGAAGTGCTTATTATTTTTAACTTAATTTAATAAATAATTAAGAATGGCTTGCAATTAATTTAGTTAATGATATATGCAACAGTTTGAAAATTTTGTTTCCTTCATACTTAAAAATAAATCTCATATATTTACTCTTTACTTGCTTTACTCACAAACACTATAAATCAAAAGTTCAGCTATCTTCTGCCCAATTGTCACAAATTTCAAATTATTAGCATGTCTGCAATTTATTTTTGAAATATAAAAACTTTTACTCTAAAACAATATATAAGTATCCTTTTCCCAGAGTGGGAGCCAACCTGTTTGTGACAATATCCAGCAAAATCACCATAGGGTTCACCTTCATTCTTCTGGATATGGATACCATTTTCCCTAGCTTACCTCAGCCAAAATGTTTAATATAGAGTTTAAATTTTAATCTCCCATTATTCCTCCTAAGTATAATTGCTACTCTGTGAATTGCCATTACTGGCATGGCTATAGAATTAGATCATTACATGGAGACTCACGTTGTTACTAGGTGTTATTTAGCTTCAATCTCCCTACTTATTCTCTCTGGGAACCGACTTAAGTCATTACTGGGTCTTGGTGCTGCACAGACATAAGCTCAAGGTTATTGTTCACAAAAAATAGTTAAAAGTAAAATTATCTATTTGTTAAAAGCCAAATAATTATTAATGTTCCTGGGAAAGATAGTATAGAAAGTTTAAAGGAAACATCTTTCCTAATAATATTAATGACAAATTGCATGGAAGAGAAATATGTACTTACGGTTTCCTTTGGAAATTGCTCCATTTTTCCTAAAGGTTTAGAACCTGGCAAGATAAAATGTGTCAGAGAGAGAGAGAGAGAGAAATAATTCAAATGGAACTGTCCAGTCGAATTCAAATAGAAATATAGAAACGTTAAGTATGTGGGGGAAAAAAAAAAACCTCTTGCTTGGTCCTAGAATCCCATCAGCCATACACAATCGACATTATCTTTAGAAGACATACTCAGCTGAGGCAACTGCTAAGTTTTACAGATACTGGGTGACTCAGCAGTTTTGGGAGGCTCTGGCTTTCAAAGTTACTCAATAAGACTTAAAAAATGAAAGTAAGGTTTTTGGATGAAAAATTAGAAAAAAAACCCCATATATTTATAGGAAATACAGCTCAACAACTTCATCCAACTCAACTGCAGATTTTTCACAGTCTTTAAGTCAACGAATTATCCTGGCTTTTTCTAGAGAGTCTTTCACAAAATAAGATTTTATTCCTAACCTCAACAATTTGGTCTTTAAAAATCTGATTTAGTTGTACTCTTAATCATTTAAATGGAAGGAACAAAAAAAGTTATATGATGTGTTCATTAATATTTTGTAAAACAAAAATTAGGATACCTTATTTGACAAACCAATGATGTCACAAAAAAGTTGAAAATATGGCTGACTTCTGATATATATGGTATAAATCATCCTACTGTATGTATTAATTTTAATGGAGAACAAAAAGAGGTAGACTTTTTCCATAGGCATAGTTATTTTAGACTAACTTACAAAAATGAAACAAACAAGCAAAAAG
Task1_train_1905
With a mutation on Chromosome 1 in gene SPTA1 (spectrin alpha, erythrocytic 1), classify this variant as benign or pathogenic. Include the disease if it's pathogenic.
Pathogenic; Pyropoikilocytosis, hereditary
CTCTTCACCCCAAGAAACACGAAGATATCCCATCATTTTTTATGCCTCAACCCCAGGGGAAGATAAGAGGCAGGAGTCCTGGGTATAAGCCAGCCACTCAAGGTTTATATCTCATATAATCAGTTAAAACCCTGATAACATAATCAATAATTGGAAACTTCTTCAAGGGCCCATACATATACCTTCGTTTCTTCGTGGGCAGAATGACCCATGGTAAATCGTTCTTCCCTTGTTTTTTCCAGTTCAGACATGAGTCTTGATTTTGTTTGCACCTCTGCTTCAAGGGATTGATGCTTCTGATATTTCCCCTAAAGTTTAGAAATCAGAGTTTTTGTCTAATGAAGCACAGTCTTCATGGGAAATGTTCACTCTATGTAAAGCCACCAAACACAGGTTCTCAAAGGGTCCCAGACTCAGAGGCCATAAAGAGTATTTTCCTGTCCCCACTGGCTTTAGGAAGTTTTCAGTAAATACTGTCCTGAGCTATGCTGAGCCTTATGATCTATGCCGAGCCTTATTTTAAAGGCTCAATAGACTGCCATAGGAATAAAAGAGTGTAACACACAGTGTCCTTCCTCATCAGAAAAGAGGAATAACTGATTTTTTTTTGGAAGTAGAGCACAATGAGAAAGATGATAGTTATAATAATGGTTTTTAAAAAAAAAAATTGAGAGTTTTTTTTGCATGCTGTGCCTGTTCTTGTAATCTATAAATTGATCCATTCAATATAGCACATTATTTTGCTCTTGTTCTAGGTGTTTCCTGTCCAACATCAATTGCTTCTGATTATGACAACACCACATGCTATAATTTTAGGTGAATAGAAAGGGGTAGGCACTTTCACCAAATTTCTTCTACTGAAACCTCTCTTTTGAAGTTAAGAGCCATGAATAGCAATTTAGGGAAGAAAAAAAAAAAACTCTGGTTAACTCATCTCTCTGAGAAGAGTAGAGAACAGGTATCACATGCTATAATTTTAGGTGATCAGAAACGCGTAGGAGCTTTCACCAAACTTCTACTGAAACCTCTCATTAGAACTTGAGACCCATGAACAACATTTTAGGAAAAACTTAAGAGCCATGAATAGCAATTGAGTTAACCAGGTTAACTAAATTGGATTTTAGTTAACCTGGTTAACTCTTATATTTCTGAGAAGAGTGGAGGACAGTTGCTTCAGAAGCATTGATGACTCTTCACCCTATTTCCCTTCTTAATGTCCCAAAATATCAAAAATCACATGGTTTGTCAGAAATTTCTTGAATTTGCAGTTGCTGTTTTGCCTGTAGGTCAATTTCAGATGAGTATTGTAACCATCAAATTCTATACAGAATAAATCTCCTTTGCAAATAACACCCCGATGTTTATGAAGATGAAGACATGGACTATTTAGAGGCAGAATTACTGTTTCTAACAGACAGTCTAATTTTTCCATTACATCACTCCCACTACAATTAACCAGATATACACTTACATTACCATAATATTTGTGCTGGATCTGAAAAAAAATTGATGTAATTTTTTACTTTTGGCATTGATGAATGCTTCACCATGAAAATATGTAAAGTATCCTATGCCCTTATCAATAAGCAATATCCTTGGTTAATGATTAAAAAATGTATATTCTGAATGGAAGTTCATTGTAAAAAACAGTTCTGTGCTTTCAACAACTGAAAAACTGCTGCTTTTTGTTTGATTCTTATTTTCTCAGTCTCACCTCTCCAACTTCATAAGGGAAAATGCACTTTTAGATTTTCTATTAATTTATTTCTTTAACTTCCCACTCCACTGACTTATTTTTGTTTCTAAACGGAATCTAATTGTACCCACACATACCCATTAACATTAACATAAAGAAAAACCTATTTCCTTCTCTAGAGATCTTAGGGTCTGCTCTGAGGCAATCAAGAGAACTGAGTGACCTGTATATTAGTTGGGTCTTCATAGCTCTTATCGGTTAAGATATTGACTTTCTCCATGATCCACTTCCCCAGATCATCTGCATCTCGCTTGAAAACTTGTAAGTGATAGGAATCCTCAAGCTTCTGACCCCTCTCAGCGACCCGCTCCTTGAAACTTTGATACCGAGTCAACACTTCCTGACGCCTCTCCTGGATCTCTTCTGCTGTTTCCAAAACCTTTGGCCCACTGCTCTCCACAACCTGCAAGTTAAAAAGATTCTGTTACTTGCTAGTTCTCAAATATTTAACATGTTGCCCCGCTTATATGTGTCAAGGTGTTTACTCATGTTGGACCTATATTCAGATATCCTGAAGTTTCTAGGGACTATTGTCAGAAGAGCTGTAGTATATTTACGTAATTTTTAACCAGACATAGCTTCTGTTTAGGTTAAAAATTCTTGATTATCCAGAAGACTCTCCTCACTTTTTACATAAATTTGTGCTAGCATTTAAGTTCTATAGATATAATTATATTGGACTGATCATGGAGCAAGTTTAAATCAGCAAAATCACATAATTTCAGATAGATAAAAAGAAATATAATGTTATTGCTTTCAAGGGCTAAAAAGGTGTTGAGAAGTGCTTATTATTTTTAACTTAATTTAATAAATAATTAAGAATGGCTTGCAATTAATTTAGTTAATGATATATGCAACAGTTTGAAAATTTTGTTTCCTTCATACTTAAAAATAAATCTCATATATTTACTCTTTACTTGCTTTACTCACAAACACTATAAATCAAAAGTTCAGCTATCTTCTGCCCAATTGTCACAAATTTCAAATTATTAGCATGTCTGCAATTTATTTTTGAAATATAAAAACTTTTACTCTAAAACAATATATAAGTATCCTTTTCCCAGAGTGGGAGCCAACCTGTTTGTGACAATATCCAGCAAAATCACCATAGGGTTCACCTTCATTCTTCTGGATATGGATACCATTTTCCCTAGCTTACCTCAGCCAAAATGTTTAATATAGAGTTTAAATTTTAATCTCCCATTATTCCTCCTAAGTATAATTGCTACTCTGTGAATTGCCATTACTGGCATGGCTATAGAATTAGATCATTACATGGAGACTCACGTTGTTACTAGGTGTTATTTAGCTTCAATCTCCCTACTTATTCTCTCTGGGAACCGACTTAAGTCATTACTGGGTCTTGGTGCTGCACAGACATAAGCTCAAGGTTATTGTTCACAAAAAATAGTTAAAAGTAAAATTATCTATTTGTTAAAAGCCAAATAATTATTAATGTTCCTGGGAAAGATAGTATAGAAAGTTTAAAGGAAACATCTTTCCTAATAATATTAATGACAAATTGCATGGAAGAGAAATATGTACTTACGGTTTCCTTTGGAAATTGCTCCATTTTTCCTAAAGGTTTAGAACCTGGCAAGATAAAATGTGTCAGAGAGAGAGAGAGAGAGAAATAATTCAAATGGAACTGTCCAGTCGAATTCAAATAGAAATATAGAAACGTTAAGTATGTGGGGGAAAAAAAAAAACCTCTTGCTTGGTCCTAGAATCCCATCAGCCATACACAATCGACATTATCTTTAGAAGACATACTCAGCTGAGGCAACTGCTAAGTTTTACAGATACTGGGTGACTCAGCAGTTTTGGGAGGCTCTGGCTTTCAAAGTTACTCAATAAGACTTAAAAAATGAAAGTAAGGTTTTTGGATGAAAAATTAGAAAAAAAACCCCATATATTTATAGGAAATACAGCTCAACAACTTCATCCAACTCAACTGCAGATTTTTCACAGTCTTTAAGTCAACGAATTATCCTGGCTTTTTCTAGAGAGTCTTTCACAAAATAAGATTTTATTCCTAACCTCAACAATTTGGTCTTTAAAAATCTGATTTAGTTGTACTCTTAATCATTTAAATGGAAGGAACAAAAAAAGTTATATGATGTGTTCATTAATATTTTGTAAAACAAAAATTAGGATACCTTATTTGACAAACCAATGATGTCACAAAAAAGTTGAAAATATGGCTGACTTCTGATATATATGGTATAAATCATCCTACTGTATGTATTAATTTTAATGGAGAACAAAAAGAGGTAGACTTTTTCCATAGGCATAGTTATTTTAGACTAACTTACAAAAATGAAACAAACAAGCAAAAAG
CTCTTCACCCCAAGAAACACGAAGATATCCCATCATTTTTTATGCCTCAACCCCAGGGGAAGATAAGAGGCAGGAGTCCTGGGTATAAGCCAGCCACTCAAGGTTTATATCTCATATAATCAGTTAAAACCCTGATAACATAATCAATAATTGGAAACTTCTTCAAGGGCCCATACATATACCTTCGTTTCTTCGTGGGCAGAATGACCCATGGTAAATCGTTCTTCCCTTGTTTTTTCCAGTTCAGACATGAGTCTTGATTTTGTTTGCACCTCTGCTTCAAGGGATTGATGCTTCTGATATTTCCCCTAAAGTTTAGAAATCAGAGTTTTTGTCTAATGAAGCACAGTCTTCATGGGAAATGTTCACTCTATGTAAAGCCACCAAACACAGGTTCTCAAAGGGTCCCAGACTCAGAGGCCATAAAGAGTATTTTCCTGTCCCCACTGGCTTTAGGAAGTTTTCAGTAAATACTGTCCTGAGCTATGCTGAGCCTTATGATCTATGCCGAGCCTTATTTTAAAGGCTCAATAGACTGCCATAGGAATAAAAGAGTGTAACACACAGTGTCCTTCCTCATCAGAAAAGAGGAATAACTGATTTTTTTTTGGAAGTAGAGCACAATGAGAAAGATGATAGTTATAATAATGGTTTTTAAAAAAAAAAATTGAGAGTTTTTTTTGCATGCTGTGCCTGTTCTTGTAATCTATAAATTGATCCATTCAATATAGCACATTATTTTGCTCTTGTTCTAGGTGTTTCCTGTCCAACATCAATTGCTTCTGATTATGACAACACCACATGCTATAATTTTAGGTGAATAGAAAGGGGTAGGCACTTTCACCAAATTTCTTCTACTGAAACCTCTCTTTTGAAGTTAAGAGCCATGAATAGCAATTTAGGGAAGAAAAAAAAAAAACTCTGGTTAACTCATCTCTCTGAGAAGAGTAGAGAACAGGTATCACATGCTATAATTTTAGGTGATCAGAAACGCGTAGGAGCTTTCACCAAACTTCTACTGAAACCTCTCATTAGAACTTGAGACCCATGAACAACATTTTAGGAAAAACTTAAGAGCCATGAATAGCAATTGAGTTAACCAGGTTAACTAAATTGGATTTTAGTTAACCTGGTTAACTCTTATATTTCTGAGAAGAGTGGAGGACAGTTGCTTCAGAAGCATTGATGACTCTTCACCCTATTTCCCTTCTTAATGTCCCAAAATATCAAAAATCACATGGTTTGTCAGAAATTTCTTGAATTTGCAGTTGCTGTTTTGCCTGTAGGTCAATTTCAGATGAGTATTGTAACCATCAAATTCTATACAGAATAAATCTCCTTTGCAAATAACACCCCGATGTTTATGAAGATGAAGACATGGACTATTTAGAGGCAGAATTACTGTTTCTAACAGACAGTCTAATTTTTCCATTACATCACTCCCACTACAATTAACCAGATATACACTTACATTACCATAATATTTGTGCTGGATCTGAAAAAAAATTGATGTAATTTTTTACTTTTGGCATTGATGAATGCTTCACCATGAAAATATGTAAAGTATCCTATGCCCTTATCAATAAGCAATATCCTTGGTTAATGATTAAAAAATGTATATTCTGAATGGAAGTTCATTGTAAAAAACAGTTCTGTGCTTTCAACAACTGAAAAACTGCTGCTTTTTGTTTGATTCTTATTTTCTCAGTCTCACCTCTCCAACTTCATAAGGGAAAATGCACTTTTAGATTTTCTATTAATTTATTTCTTTAACTTCCCACTCCACTGACTTATTTTTGTTTCTAAACGGAATCTAATTGTACCCACACATACCCATTAACATTAACATAAAGAAAAACCTATTTCCTTCTCTAGAGATCTTAGGGTCTGCTCTGAGGCAATCAAGAGAACTGAGTGACCTGTATATTAGTTGGGTCTTCATAGCTCTTATCGGTTAAGATATTGACTTTCTCCATGATCCACTTCCCCAGATCATCTGCATCTCGCTTGAAAACTTGTAAGTGATAGGAATCCTCAAGCTTCTGACCACTCTCAGCGACCCGCTCCTTGAAACTTTGATACCGAGTCAACACTTCCTGACGCCTCTCCTGGATCTCTTCTGCTGTTTCCAAAACCTTTGGCCCACTGCTCTCCACAACCTGCAAGTTAAAAAGATTCTGTTACTTGCTAGTTCTCAAATATTTAACATGTTGCCCCGCTTATATGTGTCAAGGTGTTTACTCATGTTGGACCTATATTCAGATATCCTGAAGTTTCTAGGGACTATTGTCAGAAGAGCTGTAGTATATTTACGTAATTTTTAACCAGACATAGCTTCTGTTTAGGTTAAAAATTCTTGATTATCCAGAAGACTCTCCTCACTTTTTACATAAATTTGTGCTAGCATTTAAGTTCTATAGATATAATTATATTGGACTGATCATGGAGCAAGTTTAAATCAGCAAAATCACATAATTTCAGATAGATAAAAAGAAATATAATGTTATTGCTTTCAAGGGCTAAAAAGGTGTTGAGAAGTGCTTATTATTTTTAACTTAATTTAATAAATAATTAAGAATGGCTTGCAATTAATTTAGTTAATGATATATGCAACAGTTTGAAAATTTTGTTTCCTTCATACTTAAAAATAAATCTCATATATTTACTCTTTACTTGCTTTACTCACAAACACTATAAATCAAAAGTTCAGCTATCTTCTGCCCAATTGTCACAAATTTCAAATTATTAGCATGTCTGCAATTTATTTTTGAAATATAAAAACTTTTACTCTAAAACAATATATAAGTATCCTTTTCCCAGAGTGGGAGCCAACCTGTTTGTGACAATATCCAGCAAAATCACCATAGGGTTCACCTTCATTCTTCTGGATATGGATACCATTTTCCCTAGCTTACCTCAGCCAAAATGTTTAATATAGAGTTTAAATTTTAATCTCCCATTATTCCTCCTAAGTATAATTGCTACTCTGTGAATTGCCATTACTGGCATGGCTATAGAATTAGATCATTACATGGAGACTCACGTTGTTACTAGGTGTTATTTAGCTTCAATCTCCCTACTTATTCTCTCTGGGAACCGACTTAAGTCATTACTGGGTCTTGGTGCTGCACAGACATAAGCTCAAGGTTATTGTTCACAAAAAATAGTTAAAAGTAAAATTATCTATTTGTTAAAAGCCAAATAATTATTAATGTTCCTGGGAAAGATAGTATAGAAAGTTTAAAGGAAACATCTTTCCTAATAATATTAATGACAAATTGCATGGAAGAGAAATATGTACTTACGGTTTCCTTTGGAAATTGCTCCATTTTTCCTAAAGGTTTAGAACCTGGCAAGATAAAATGTGTCAGAGAGAGAGAGAGAGAGAAATAATTCAAATGGAACTGTCCAGTCGAATTCAAATAGAAATATAGAAACGTTAAGTATGTGGGGGAAAAAAAAAAACCTCTTGCTTGGTCCTAGAATCCCATCAGCCATACACAATCGACATTATCTTTAGAAGACATACTCAGCTGAGGCAACTGCTAAGTTTTACAGATACTGGGTGACTCAGCAGTTTTGGGAGGCTCTGGCTTTCAAAGTTACTCAATAAGACTTAAAAAATGAAAGTAAGGTTTTTGGATGAAAAATTAGAAAAAAAACCCCATATATTTATAGGAAATACAGCTCAACAACTTCATCCAACTCAACTGCAGATTTTTCACAGTCTTTAAGTCAACGAATTATCCTGGCTTTTTCTAGAGAGTCTTTCACAAAATAAGATTTTATTCCTAACCTCAACAATTTGGTCTTTAAAAATCTGATTTAGTTGTACTCTTAATCATTTAAATGGAAGGAACAAAAAAAGTTATATGATGTGTTCATTAATATTTTGTAAAACAAAAATTAGGATACCTTATTTGACAAACCAATGATGTCACAAAAAAGTTGAAAATATGGCTGACTTCTGATATATATGGTATAAATCATCCTACTGTATGTATTAATTTTAATGGAGAACAAAAAGAGGTAGACTTTTTCCATAGGCATAGTTATTTTAGACTAACTTACAAAAATGAAACAAACAAGCAAAAAG
Task1_train_1906
Gene SPTA1 (spectrin alpha, erythrocytic 1) on Chromosome 1 is altered by this variant. Does this mutation result in a disease or is it benign?
Pathogenic; Elliptocytosis 2
AAACACGAAGATATCCCATCATTTTTTATGCCTCAACCCCAGGGGAAGATAAGAGGCAGGAGTCCTGGGTATAAGCCAGCCACTCAAGGTTTATATCTCATATAATCAGTTAAAACCCTGATAACATAATCAATAATTGGAAACTTCTTCAAGGGCCCATACATATACCTTCGTTTCTTCGTGGGCAGAATGACCCATGGTAAATCGTTCTTCCCTTGTTTTTTCCAGTTCAGACATGAGTCTTGATTTTGTTTGCACCTCTGCTTCAAGGGATTGATGCTTCTGATATTTCCCCTAAAGTTTAGAAATCAGAGTTTTTGTCTAATGAAGCACAGTCTTCATGGGAAATGTTCACTCTATGTAAAGCCACCAAACACAGGTTCTCAAAGGGTCCCAGACTCAGAGGCCATAAAGAGTATTTTCCTGTCCCCACTGGCTTTAGGAAGTTTTCAGTAAATACTGTCCTGAGCTATGCTGAGCCTTATGATCTATGCCGAGCCTTATTTTAAAGGCTCAATAGACTGCCATAGGAATAAAAGAGTGTAACACACAGTGTCCTTCCTCATCAGAAAAGAGGAATAACTGATTTTTTTTTGGAAGTAGAGCACAATGAGAAAGATGATAGTTATAATAATGGTTTTTAAAAAAAAAAATTGAGAGTTTTTTTTGCATGCTGTGCCTGTTCTTGTAATCTATAAATTGATCCATTCAATATAGCACATTATTTTGCTCTTGTTCTAGGTGTTTCCTGTCCAACATCAATTGCTTCTGATTATGACAACACCACATGCTATAATTTTAGGTGAATAGAAAGGGGTAGGCACTTTCACCAAATTTCTTCTACTGAAACCTCTCTTTTGAAGTTAAGAGCCATGAATAGCAATTTAGGGAAGAAAAAAAAAAAACTCTGGTTAACTCATCTCTCTGAGAAGAGTAGAGAACAGGTATCACATGCTATAATTTTAGGTGATCAGAAACGCGTAGGAGCTTTCACCAAACTTCTACTGAAACCTCTCATTAGAACTTGAGACCCATGAACAACATTTTAGGAAAAACTTAAGAGCCATGAATAGCAATTGAGTTAACCAGGTTAACTAAATTGGATTTTAGTTAACCTGGTTAACTCTTATATTTCTGAGAAGAGTGGAGGACAGTTGCTTCAGAAGCATTGATGACTCTTCACCCTATTTCCCTTCTTAATGTCCCAAAATATCAAAAATCACATGGTTTGTCAGAAATTTCTTGAATTTGCAGTTGCTGTTTTGCCTGTAGGTCAATTTCAGATGAGTATTGTAACCATCAAATTCTATACAGAATAAATCTCCTTTGCAAATAACACCCCGATGTTTATGAAGATGAAGACATGGACTATTTAGAGGCAGAATTACTGTTTCTAACAGACAGTCTAATTTTTCCATTACATCACTCCCACTACAATTAACCAGATATACACTTACATTACCATAATATTTGTGCTGGATCTGAAAAAAAATTGATGTAATTTTTTACTTTTGGCATTGATGAATGCTTCACCATGAAAATATGTAAAGTATCCTATGCCCTTATCAATAAGCAATATCCTTGGTTAATGATTAAAAAATGTATATTCTGAATGGAAGTTCATTGTAAAAAACAGTTCTGTGCTTTCAACAACTGAAAAACTGCTGCTTTTTGTTTGATTCTTATTTTCTCAGTCTCACCTCTCCAACTTCATAAGGGAAAATGCACTTTTAGATTTTCTATTAATTTATTTCTTTAACTTCCCACTCCACTGACTTATTTTTGTTTCTAAACGGAATCTAATTGTACCCACACATACCCATTAACATTAACATAAAGAAAAACCTATTTCCTTCTCTAGAGATCTTAGGGTCTGCTCTGAGGCAATCAAGAGAACTGAGTGACCTGTATATTAGTTGGGTCTTCATAGCTCTTATCGGTTAAGATATTGACTTTCTCCATGATCCACTTCCCCAGATCATCTGCATCTCGCTTGAAAACTTGTAAGTGATAGGAATCCTCAAGCTTCTGACCCCTCTCAGCGACCCGCTCCTTGAAACTTTGATACCGAGTCAACACTTCCTGACGCCTCTCCTGGATCTCTTCTGCTGTTTCCAAAACCTTTGGCCCACTGCTCTCCACAACCTGCAAGTTAAAAAGATTCTGTTACTTGCTAGTTCTCAAATATTTAACATGTTGCCCCGCTTATATGTGTCAAGGTGTTTACTCATGTTGGACCTATATTCAGATATCCTGAAGTTTCTAGGGACTATTGTCAGAAGAGCTGTAGTATATTTACGTAATTTTTAACCAGACATAGCTTCTGTTTAGGTTAAAAATTCTTGATTATCCAGAAGACTCTCCTCACTTTTTACATAAATTTGTGCTAGCATTTAAGTTCTATAGATATAATTATATTGGACTGATCATGGAGCAAGTTTAAATCAGCAAAATCACATAATTTCAGATAGATAAAAAGAAATATAATGTTATTGCTTTCAAGGGCTAAAAAGGTGTTGAGAAGTGCTTATTATTTTTAACTTAATTTAATAAATAATTAAGAATGGCTTGCAATTAATTTAGTTAATGATATATGCAACAGTTTGAAAATTTTGTTTCCTTCATACTTAAAAATAAATCTCATATATTTACTCTTTACTTGCTTTACTCACAAACACTATAAATCAAAAGTTCAGCTATCTTCTGCCCAATTGTCACAAATTTCAAATTATTAGCATGTCTGCAATTTATTTTTGAAATATAAAAACTTTTACTCTAAAACAATATATAAGTATCCTTTTCCCAGAGTGGGAGCCAACCTGTTTGTGACAATATCCAGCAAAATCACCATAGGGTTCACCTTCATTCTTCTGGATATGGATACCATTTTCCCTAGCTTACCTCAGCCAAAATGTTTAATATAGAGTTTAAATTTTAATCTCCCATTATTCCTCCTAAGTATAATTGCTACTCTGTGAATTGCCATTACTGGCATGGCTATAGAATTAGATCATTACATGGAGACTCACGTTGTTACTAGGTGTTATTTAGCTTCAATCTCCCTACTTATTCTCTCTGGGAACCGACTTAAGTCATTACTGGGTCTTGGTGCTGCACAGACATAAGCTCAAGGTTATTGTTCACAAAAAATAGTTAAAAGTAAAATTATCTATTTGTTAAAAGCCAAATAATTATTAATGTTCCTGGGAAAGATAGTATAGAAAGTTTAAAGGAAACATCTTTCCTAATAATATTAATGACAAATTGCATGGAAGAGAAATATGTACTTACGGTTTCCTTTGGAAATTGCTCCATTTTTCCTAAAGGTTTAGAACCTGGCAAGATAAAATGTGTCAGAGAGAGAGAGAGAGAGAAATAATTCAAATGGAACTGTCCAGTCGAATTCAAATAGAAATATAGAAACGTTAAGTATGTGGGGGAAAAAAAAAAACCTCTTGCTTGGTCCTAGAATCCCATCAGCCATACACAATCGACATTATCTTTAGAAGACATACTCAGCTGAGGCAACTGCTAAGTTTTACAGATACTGGGTGACTCAGCAGTTTTGGGAGGCTCTGGCTTTCAAAGTTACTCAATAAGACTTAAAAAATGAAAGTAAGGTTTTTGGATGAAAAATTAGAAAAAAAACCCCATATATTTATAGGAAATACAGCTCAACAACTTCATCCAACTCAACTGCAGATTTTTCACAGTCTTTAAGTCAACGAATTATCCTGGCTTTTTCTAGAGAGTCTTTCACAAAATAAGATTTTATTCCTAACCTCAACAATTTGGTCTTTAAAAATCTGATTTAGTTGTACTCTTAATCATTTAAATGGAAGGAACAAAAAAAGTTATATGATGTGTTCATTAATATTTTGTAAAACAAAAATTAGGATACCTTATTTGACAAACCAATGATGTCACAAAAAAGTTGAAAATATGGCTGACTTCTGATATATATGGTATAAATCATCCTACTGTATGTATTAATTTTAATGGAGAACAAAAAGAGGTAGACTTTTTCCATAGGCATAGTTATTTTAGACTAACTTACAAAAATGAAACAAACAAGCAAAAAGAAAATAGTGGGATG
AAACACGAAGATATCCCATCATTTTTTATGCCTCAACCCCAGGGGAAGATAAGAGGCAGGAGTCCTGGGTATAAGCCAGCCACTCAAGGTTTATATCTCATATAATCAGTTAAAACCCTGATAACATAATCAATAATTGGAAACTTCTTCAAGGGCCCATACATATACCTTCGTTTCTTCGTGGGCAGAATGACCCATGGTAAATCGTTCTTCCCTTGTTTTTTCCAGTTCAGACATGAGTCTTGATTTTGTTTGCACCTCTGCTTCAAGGGATTGATGCTTCTGATATTTCCCCTAAAGTTTAGAAATCAGAGTTTTTGTCTAATGAAGCACAGTCTTCATGGGAAATGTTCACTCTATGTAAAGCCACCAAACACAGGTTCTCAAAGGGTCCCAGACTCAGAGGCCATAAAGAGTATTTTCCTGTCCCCACTGGCTTTAGGAAGTTTTCAGTAAATACTGTCCTGAGCTATGCTGAGCCTTATGATCTATGCCGAGCCTTATTTTAAAGGCTCAATAGACTGCCATAGGAATAAAAGAGTGTAACACACAGTGTCCTTCCTCATCAGAAAAGAGGAATAACTGATTTTTTTTTGGAAGTAGAGCACAATGAGAAAGATGATAGTTATAATAATGGTTTTTAAAAAAAAAAATTGAGAGTTTTTTTTGCATGCTGTGCCTGTTCTTGTAATCTATAAATTGATCCATTCAATATAGCACATTATTTTGCTCTTGTTCTAGGTGTTTCCTGTCCAACATCAATTGCTTCTGATTATGACAACACCACATGCTATAATTTTAGGTGAATAGAAAGGGGTAGGCACTTTCACCAAATTTCTTCTACTGAAACCTCTCTTTTGAAGTTAAGAGCCATGAATAGCAATTTAGGGAAGAAAAAAAAAAAACTCTGGTTAACTCATCTCTCTGAGAAGAGTAGAGAACAGGTATCACATGCTATAATTTTAGGTGATCAGAAACGCGTAGGAGCTTTCACCAAACTTCTACTGAAACCTCTCATTAGAACTTGAGACCCATGAACAACATTTTAGGAAAAACTTAAGAGCCATGAATAGCAATTGAGTTAACCAGGTTAACTAAATTGGATTTTAGTTAACCTGGTTAACTCTTATATTTCTGAGAAGAGTGGAGGACAGTTGCTTCAGAAGCATTGATGACTCTTCACCCTATTTCCCTTCTTAATGTCCCAAAATATCAAAAATCACATGGTTTGTCAGAAATTTCTTGAATTTGCAGTTGCTGTTTTGCCTGTAGGTCAATTTCAGATGAGTATTGTAACCATCAAATTCTATACAGAATAAATCTCCTTTGCAAATAACACCCCGATGTTTATGAAGATGAAGACATGGACTATTTAGAGGCAGAATTACTGTTTCTAACAGACAGTCTAATTTTTCCATTACATCACTCCCACTACAATTAACCAGATATACACTTACATTACCATAATATTTGTGCTGGATCTGAAAAAAAATTGATGTAATTTTTTACTTTTGGCATTGATGAATGCTTCACCATGAAAATATGTAAAGTATCCTATGCCCTTATCAATAAGCAATATCCTTGGTTAATGATTAAAAAATGTATATTCTGAATGGAAGTTCATTGTAAAAAACAGTTCTGTGCTTTCAACAACTGAAAAACTGCTGCTTTTTGTTTGATTCTTATTTTCTCAGTCTCACCTCTCCAACTTCATAAGGGAAAATGCACTTTTAGATTTTCTATTAATTTATTTCTTTAACTTCCCACTCCACTGACTTATTTTTGTTTCTAAACGGAATCTAATTGTACCCACACATACCCATTAACATTAACATAAAGAAAAACCTATTTCCTTCTCTAGAGATCTTAGGGTCTGCTCTGAGGCAATCAAGAGAACTGAGTGACCTGTATATTAGTTGGGTCTTCATAGCTCTTATCGGTTAAGATATTGACTTTCTCCATGATCCACTTCCCCAGATCATCTGCATCTCGCTTGAAAACTTGTAAGTGATAGGAATCCTCAAGCTTCTGACCCCTCTCAGCGACCCACTCCTTGAAACTTTGATACCGAGTCAACACTTCCTGACGCCTCTCCTGGATCTCTTCTGCTGTTTCCAAAACCTTTGGCCCACTGCTCTCCACAACCTGCAAGTTAAAAAGATTCTGTTACTTGCTAGTTCTCAAATATTTAACATGTTGCCCCGCTTATATGTGTCAAGGTGTTTACTCATGTTGGACCTATATTCAGATATCCTGAAGTTTCTAGGGACTATTGTCAGAAGAGCTGTAGTATATTTACGTAATTTTTAACCAGACATAGCTTCTGTTTAGGTTAAAAATTCTTGATTATCCAGAAGACTCTCCTCACTTTTTACATAAATTTGTGCTAGCATTTAAGTTCTATAGATATAATTATATTGGACTGATCATGGAGCAAGTTTAAATCAGCAAAATCACATAATTTCAGATAGATAAAAAGAAATATAATGTTATTGCTTTCAAGGGCTAAAAAGGTGTTGAGAAGTGCTTATTATTTTTAACTTAATTTAATAAATAATTAAGAATGGCTTGCAATTAATTTAGTTAATGATATATGCAACAGTTTGAAAATTTTGTTTCCTTCATACTTAAAAATAAATCTCATATATTTACTCTTTACTTGCTTTACTCACAAACACTATAAATCAAAAGTTCAGCTATCTTCTGCCCAATTGTCACAAATTTCAAATTATTAGCATGTCTGCAATTTATTTTTGAAATATAAAAACTTTTACTCTAAAACAATATATAAGTATCCTTTTCCCAGAGTGGGAGCCAACCTGTTTGTGACAATATCCAGCAAAATCACCATAGGGTTCACCTTCATTCTTCTGGATATGGATACCATTTTCCCTAGCTTACCTCAGCCAAAATGTTTAATATAGAGTTTAAATTTTAATCTCCCATTATTCCTCCTAAGTATAATTGCTACTCTGTGAATTGCCATTACTGGCATGGCTATAGAATTAGATCATTACATGGAGACTCACGTTGTTACTAGGTGTTATTTAGCTTCAATCTCCCTACTTATTCTCTCTGGGAACCGACTTAAGTCATTACTGGGTCTTGGTGCTGCACAGACATAAGCTCAAGGTTATTGTTCACAAAAAATAGTTAAAAGTAAAATTATCTATTTGTTAAAAGCCAAATAATTATTAATGTTCCTGGGAAAGATAGTATAGAAAGTTTAAAGGAAACATCTTTCCTAATAATATTAATGACAAATTGCATGGAAGAGAAATATGTACTTACGGTTTCCTTTGGAAATTGCTCCATTTTTCCTAAAGGTTTAGAACCTGGCAAGATAAAATGTGTCAGAGAGAGAGAGAGAGAGAAATAATTCAAATGGAACTGTCCAGTCGAATTCAAATAGAAATATAGAAACGTTAAGTATGTGGGGGAAAAAAAAAAACCTCTTGCTTGGTCCTAGAATCCCATCAGCCATACACAATCGACATTATCTTTAGAAGACATACTCAGCTGAGGCAACTGCTAAGTTTTACAGATACTGGGTGACTCAGCAGTTTTGGGAGGCTCTGGCTTTCAAAGTTACTCAATAAGACTTAAAAAATGAAAGTAAGGTTTTTGGATGAAAAATTAGAAAAAAAACCCCATATATTTATAGGAAATACAGCTCAACAACTTCATCCAACTCAACTGCAGATTTTTCACAGTCTTTAAGTCAACGAATTATCCTGGCTTTTTCTAGAGAGTCTTTCACAAAATAAGATTTTATTCCTAACCTCAACAATTTGGTCTTTAAAAATCTGATTTAGTTGTACTCTTAATCATTTAAATGGAAGGAACAAAAAAAGTTATATGATGTGTTCATTAATATTTTGTAAAACAAAAATTAGGATACCTTATTTGACAAACCAATGATGTCACAAAAAAGTTGAAAATATGGCTGACTTCTGATATATATGGTATAAATCATCCTACTGTATGTATTAATTTTAATGGAGAACAAAAAGAGGTAGACTTTTTCCATAGGCATAGTTATTTTAGACTAACTTACAAAAATGAAACAAACAAGCAAAAAGAAAATAGTGGGATG
Task1_train_1907
A variant was discovered on Chromosome 1, affecting SPTA1 (spectrin alpha, erythrocytic 1). What is its functional impact — neutral or pathogenic? State the disease if pathogenic.
Pathogenic; not provided
CCAGGGGAAGATAAGAGGCAGGAGTCCTGGGTATAAGCCAGCCACTCAAGGTTTATATCTCATATAATCAGTTAAAACCCTGATAACATAATCAATAATTGGAAACTTCTTCAAGGGCCCATACATATACCTTCGTTTCTTCGTGGGCAGAATGACCCATGGTAAATCGTTCTTCCCTTGTTTTTTCCAGTTCAGACATGAGTCTTGATTTTGTTTGCACCTCTGCTTCAAGGGATTGATGCTTCTGATATTTCCCCTAAAGTTTAGAAATCAGAGTTTTTGTCTAATGAAGCACAGTCTTCATGGGAAATGTTCACTCTATGTAAAGCCACCAAACACAGGTTCTCAAAGGGTCCCAGACTCAGAGGCCATAAAGAGTATTTTCCTGTCCCCACTGGCTTTAGGAAGTTTTCAGTAAATACTGTCCTGAGCTATGCTGAGCCTTATGATCTATGCCGAGCCTTATTTTAAAGGCTCAATAGACTGCCATAGGAATAAAAGAGTGTAACACACAGTGTCCTTCCTCATCAGAAAAGAGGAATAACTGATTTTTTTTTGGAAGTAGAGCACAATGAGAAAGATGATAGTTATAATAATGGTTTTTAAAAAAAAAAATTGAGAGTTTTTTTTGCATGCTGTGCCTGTTCTTGTAATCTATAAATTGATCCATTCAATATAGCACATTATTTTGCTCTTGTTCTAGGTGTTTCCTGTCCAACATCAATTGCTTCTGATTATGACAACACCACATGCTATAATTTTAGGTGAATAGAAAGGGGTAGGCACTTTCACCAAATTTCTTCTACTGAAACCTCTCTTTTGAAGTTAAGAGCCATGAATAGCAATTTAGGGAAGAAAAAAAAAAAACTCTGGTTAACTCATCTCTCTGAGAAGAGTAGAGAACAGGTATCACATGCTATAATTTTAGGTGATCAGAAACGCGTAGGAGCTTTCACCAAACTTCTACTGAAACCTCTCATTAGAACTTGAGACCCATGAACAACATTTTAGGAAAAACTTAAGAGCCATGAATAGCAATTGAGTTAACCAGGTTAACTAAATTGGATTTTAGTTAACCTGGTTAACTCTTATATTTCTGAGAAGAGTGGAGGACAGTTGCTTCAGAAGCATTGATGACTCTTCACCCTATTTCCCTTCTTAATGTCCCAAAATATCAAAAATCACATGGTTTGTCAGAAATTTCTTGAATTTGCAGTTGCTGTTTTGCCTGTAGGTCAATTTCAGATGAGTATTGTAACCATCAAATTCTATACAGAATAAATCTCCTTTGCAAATAACACCCCGATGTTTATGAAGATGAAGACATGGACTATTTAGAGGCAGAATTACTGTTTCTAACAGACAGTCTAATTTTTCCATTACATCACTCCCACTACAATTAACCAGATATACACTTACATTACCATAATATTTGTGCTGGATCTGAAAAAAAATTGATGTAATTTTTTACTTTTGGCATTGATGAATGCTTCACCATGAAAATATGTAAAGTATCCTATGCCCTTATCAATAAGCAATATCCTTGGTTAATGATTAAAAAATGTATATTCTGAATGGAAGTTCATTGTAAAAAACAGTTCTGTGCTTTCAACAACTGAAAAACTGCTGCTTTTTGTTTGATTCTTATTTTCTCAGTCTCACCTCTCCAACTTCATAAGGGAAAATGCACTTTTAGATTTTCTATTAATTTATTTCTTTAACTTCCCACTCCACTGACTTATTTTTGTTTCTAAACGGAATCTAATTGTACCCACACATACCCATTAACATTAACATAAAGAAAAACCTATTTCCTTCTCTAGAGATCTTAGGGTCTGCTCTGAGGCAATCAAGAGAACTGAGTGACCTGTATATTAGTTGGGTCTTCATAGCTCTTATCGGTTAAGATATTGACTTTCTCCATGATCCACTTCCCCAGATCATCTGCATCTCGCTTGAAAACTTGTAAGTGATAGGAATCCTCAAGCTTCTGACCCCTCTCAGCGACCCGCTCCTTGAAACTTTGATACCGAGTCAACACTTCCTGACGCCTCTCCTGGATCTCTTCTGCTGTTTCCAAAACCTTTGGCCCACTGCTCTCCACAACCTGCAAGTTAAAAAGATTCTGTTACTTGCTAGTTCTCAAATATTTAACATGTTGCCCCGCTTATATGTGTCAAGGTGTTTACTCATGTTGGACCTATATTCAGATATCCTGAAGTTTCTAGGGACTATTGTCAGAAGAGCTGTAGTATATTTACGTAATTTTTAACCAGACATAGCTTCTGTTTAGGTTAAAAATTCTTGATTATCCAGAAGACTCTCCTCACTTTTTACATAAATTTGTGCTAGCATTTAAGTTCTATAGATATAATTATATTGGACTGATCATGGAGCAAGTTTAAATCAGCAAAATCACATAATTTCAGATAGATAAAAAGAAATATAATGTTATTGCTTTCAAGGGCTAAAAAGGTGTTGAGAAGTGCTTATTATTTTTAACTTAATTTAATAAATAATTAAGAATGGCTTGCAATTAATTTAGTTAATGATATATGCAACAGTTTGAAAATTTTGTTTCCTTCATACTTAAAAATAAATCTCATATATTTACTCTTTACTTGCTTTACTCACAAACACTATAAATCAAAAGTTCAGCTATCTTCTGCCCAATTGTCACAAATTTCAAATTATTAGCATGTCTGCAATTTATTTTTGAAATATAAAAACTTTTACTCTAAAACAATATATAAGTATCCTTTTCCCAGAGTGGGAGCCAACCTGTTTGTGACAATATCCAGCAAAATCACCATAGGGTTCACCTTCATTCTTCTGGATATGGATACCATTTTCCCTAGCTTACCTCAGCCAAAATGTTTAATATAGAGTTTAAATTTTAATCTCCCATTATTCCTCCTAAGTATAATTGCTACTCTGTGAATTGCCATTACTGGCATGGCTATAGAATTAGATCATTACATGGAGACTCACGTTGTTACTAGGTGTTATTTAGCTTCAATCTCCCTACTTATTCTCTCTGGGAACCGACTTAAGTCATTACTGGGTCTTGGTGCTGCACAGACATAAGCTCAAGGTTATTGTTCACAAAAAATAGTTAAAAGTAAAATTATCTATTTGTTAAAAGCCAAATAATTATTAATGTTCCTGGGAAAGATAGTATAGAAAGTTTAAAGGAAACATCTTTCCTAATAATATTAATGACAAATTGCATGGAAGAGAAATATGTACTTACGGTTTCCTTTGGAAATTGCTCCATTTTTCCTAAAGGTTTAGAACCTGGCAAGATAAAATGTGTCAGAGAGAGAGAGAGAGAGAAATAATTCAAATGGAACTGTCCAGTCGAATTCAAATAGAAATATAGAAACGTTAAGTATGTGGGGGAAAAAAAAAAACCTCTTGCTTGGTCCTAGAATCCCATCAGCCATACACAATCGACATTATCTTTAGAAGACATACTCAGCTGAGGCAACTGCTAAGTTTTACAGATACTGGGTGACTCAGCAGTTTTGGGAGGCTCTGGCTTTCAAAGTTACTCAATAAGACTTAAAAAATGAAAGTAAGGTTTTTGGATGAAAAATTAGAAAAAAAACCCCATATATTTATAGGAAATACAGCTCAACAACTTCATCCAACTCAACTGCAGATTTTTCACAGTCTTTAAGTCAACGAATTATCCTGGCTTTTTCTAGAGAGTCTTTCACAAAATAAGATTTTATTCCTAACCTCAACAATTTGGTCTTTAAAAATCTGATTTAGTTGTACTCTTAATCATTTAAATGGAAGGAACAAAAAAAGTTATATGATGTGTTCATTAATATTTTGTAAAACAAAAATTAGGATACCTTATTTGACAAACCAATGATGTCACAAAAAAGTTGAAAATATGGCTGACTTCTGATATATATGGTATAAATCATCCTACTGTATGTATTAATTTTAATGGAGAACAAAAAGAGGTAGACTTTTTCCATAGGCATAGTTATTTTAGACTAACTTACAAAAATGAAACAAACAAGCAAAAAGAAAATAGTGGGATGCTCTTAGACCTTTCTACAAGCCAGTGGGGCTATCCATG
CCAGGGGAAGATAAGAGGCAGGAGTCCTGGGTATAAGCCAGCCACTCAAGGTTTATATCTCATATAATCAGTTAAAACCCTGATAACATAATCAATAATTGGAAACTTCTTCAAGGGCCCATACATATACCTTCGTTTCTTCGTGGGCAGAATGACCCATGGTAAATCGTTCTTCCCTTGTTTTTTCCAGTTCAGACATGAGTCTTGATTTTGTTTGCACCTCTGCTTCAAGGGATTGATGCTTCTGATATTTCCCCTAAAGTTTAGAAATCAGAGTTTTTGTCTAATGAAGCACAGTCTTCATGGGAAATGTTCACTCTATGTAAAGCCACCAAACACAGGTTCTCAAAGGGTCCCAGACTCAGAGGCCATAAAGAGTATTTTCCTGTCCCCACTGGCTTTAGGAAGTTTTCAGTAAATACTGTCCTGAGCTATGCTGAGCCTTATGATCTATGCCGAGCCTTATTTTAAAGGCTCAATAGACTGCCATAGGAATAAAAGAGTGTAACACACAGTGTCCTTCCTCATCAGAAAAGAGGAATAACTGATTTTTTTTTGGAAGTAGAGCACAATGAGAAAGATGATAGTTATAATAATGGTTTTTAAAAAAAAAAATTGAGAGTTTTTTTTGCATGCTGTGCCTGTTCTTGTAATCTATAAATTGATCCATTCAATATAGCACATTATTTTGCTCTTGTTCTAGGTGTTTCCTGTCCAACATCAATTGCTTCTGATTATGACAACACCACATGCTATAATTTTAGGTGAATAGAAAGGGGTAGGCACTTTCACCAAATTTCTTCTACTGAAACCTCTCTTTTGAAGTTAAGAGCCATGAATAGCAATTTAGGGAAGAAAAAAAAAAAACTCTGGTTAACTCATCTCTCTGAGAAGAGTAGAGAACAGGTATCACATGCTATAATTTTAGGTGATCAGAAACGCGTAGGAGCTTTCACCAAACTTCTACTGAAACCTCTCATTAGAACTTGAGACCCATGAACAACATTTTAGGAAAAACTTAAGAGCCATGAATAGCAATTGAGTTAACCAGGTTAACTAAATTGGATTTTAGTTAACCTGGTTAACTCTTATATTTCTGAGAAGAGTGGAGGACAGTTGCTTCAGAAGCATTGATGACTCTTCACCCTATTTCCCTTCTTAATGTCCCAAAATATCAAAAATCACATGGTTTGTCAGAAATTTCTTGAATTTGCAGTTGCTGTTTTGCCTGTAGGTCAATTTCAGATGAGTATTGTAACCATCAAATTCTATACAGAATAAATCTCCTTTGCAAATAACACCCCGATGTTTATGAAGATGAAGACATGGACTATTTAGAGGCAGAATTACTGTTTCTAACAGACAGTCTAATTTTTCCATTACATCACTCCCACTACAATTAACCAGATATACACTTACATTACCATAATATTTGTGCTGGATCTGAAAAAAAATTGATGTAATTTTTTACTTTTGGCATTGATGAATGCTTCACCATGAAAATATGTAAAGTATCCTATGCCCTTATCAATAAGCAATATCCTTGGTTAATGATTAAAAAATGTATATTCTGAATGGAAGTTCATTGTAAAAAACAGTTCTGTGCTTTCAACAACTGAAAAACTGCTGCTTTTTGTTTGATTCTTATTTTCTCAGTCTCACCTCTCCAACTTCATAAGGGAAAATGCACTTTTAGATTTTCTATTAATTTATTTCTTTAACTTCCCACTCCACTGACTTATTTTTGTTTCTAAACGGAATCTAATTGTACCCACACATACCCATTAACATTAACATAAAGAAAAACCTATTTCCTTCTCTAGAGATCTTAGGGTCTGCTCTGAGGCAATCAAGAGAACTGAGTGACCTGTATATTAGTTGGGTCTTCATAGCTCTTATCGGTTAAGATATTGACTTTCTCCATGATCCACTTCCCCAGATCATCTGCATCTCGCTTGAAAACTTGTAAGTGATAGGAATCCTCAAGCTTCTGACCCCTCTCAGCGACCCGCTCCTTGAAACTTTGATACCGAGTCAACACTTCCTGAAGCCTCTCCTGGATCTCTTCTGCTGTTTCCAAAACCTTTGGCCCACTGCTCTCCACAACCTGCAAGTTAAAAAGATTCTGTTACTTGCTAGTTCTCAAATATTTAACATGTTGCCCCGCTTATATGTGTCAAGGTGTTTACTCATGTTGGACCTATATTCAGATATCCTGAAGTTTCTAGGGACTATTGTCAGAAGAGCTGTAGTATATTTACGTAATTTTTAACCAGACATAGCTTCTGTTTAGGTTAAAAATTCTTGATTATCCAGAAGACTCTCCTCACTTTTTACATAAATTTGTGCTAGCATTTAAGTTCTATAGATATAATTATATTGGACTGATCATGGAGCAAGTTTAAATCAGCAAAATCACATAATTTCAGATAGATAAAAAGAAATATAATGTTATTGCTTTCAAGGGCTAAAAAGGTGTTGAGAAGTGCTTATTATTTTTAACTTAATTTAATAAATAATTAAGAATGGCTTGCAATTAATTTAGTTAATGATATATGCAACAGTTTGAAAATTTTGTTTCCTTCATACTTAAAAATAAATCTCATATATTTACTCTTTACTTGCTTTACTCACAAACACTATAAATCAAAAGTTCAGCTATCTTCTGCCCAATTGTCACAAATTTCAAATTATTAGCATGTCTGCAATTTATTTTTGAAATATAAAAACTTTTACTCTAAAACAATATATAAGTATCCTTTTCCCAGAGTGGGAGCCAACCTGTTTGTGACAATATCCAGCAAAATCACCATAGGGTTCACCTTCATTCTTCTGGATATGGATACCATTTTCCCTAGCTTACCTCAGCCAAAATGTTTAATATAGAGTTTAAATTTTAATCTCCCATTATTCCTCCTAAGTATAATTGCTACTCTGTGAATTGCCATTACTGGCATGGCTATAGAATTAGATCATTACATGGAGACTCACGTTGTTACTAGGTGTTATTTAGCTTCAATCTCCCTACTTATTCTCTCTGGGAACCGACTTAAGTCATTACTGGGTCTTGGTGCTGCACAGACATAAGCTCAAGGTTATTGTTCACAAAAAATAGTTAAAAGTAAAATTATCTATTTGTTAAAAGCCAAATAATTATTAATGTTCCTGGGAAAGATAGTATAGAAAGTTTAAAGGAAACATCTTTCCTAATAATATTAATGACAAATTGCATGGAAGAGAAATATGTACTTACGGTTTCCTTTGGAAATTGCTCCATTTTTCCTAAAGGTTTAGAACCTGGCAAGATAAAATGTGTCAGAGAGAGAGAGAGAGAGAAATAATTCAAATGGAACTGTCCAGTCGAATTCAAATAGAAATATAGAAACGTTAAGTATGTGGGGGAAAAAAAAAAACCTCTTGCTTGGTCCTAGAATCCCATCAGCCATACACAATCGACATTATCTTTAGAAGACATACTCAGCTGAGGCAACTGCTAAGTTTTACAGATACTGGGTGACTCAGCAGTTTTGGGAGGCTCTGGCTTTCAAAGTTACTCAATAAGACTTAAAAAATGAAAGTAAGGTTTTTGGATGAAAAATTAGAAAAAAAACCCCATATATTTATAGGAAATACAGCTCAACAACTTCATCCAACTCAACTGCAGATTTTTCACAGTCTTTAAGTCAACGAATTATCCTGGCTTTTTCTAGAGAGTCTTTCACAAAATAAGATTTTATTCCTAACCTCAACAATTTGGTCTTTAAAAATCTGATTTAGTTGTACTCTTAATCATTTAAATGGAAGGAACAAAAAAAGTTATATGATGTGTTCATTAATATTTTGTAAAACAAAAATTAGGATACCTTATTTGACAAACCAATGATGTCACAAAAAAGTTGAAAATATGGCTGACTTCTGATATATATGGTATAAATCATCCTACTGTATGTATTAATTTTAATGGAGAACAAAAAGAGGTAGACTTTTTCCATAGGCATAGTTATTTTAGACTAACTTACAAAAATGAAACAAACAAGCAAAAAGAAAATAGTGGGATGCTCTTAGACCTTTCTACAAGCCAGTGGGGCTATCCATG
Task1_train_1908
The gene SPTA1 (spectrin alpha, erythrocytic 1) on Chromosome 1 contains a mutation. Based on this information, is the variant pathogenic or benign? Provide the disease if relevant.
Pathogenic; SPTA1-related disorder
CAGGGGAAGATAAGAGGCAGGAGTCCTGGGTATAAGCCAGCCACTCAAGGTTTATATCTCATATAATCAGTTAAAACCCTGATAACATAATCAATAATTGGAAACTTCTTCAAGGGCCCATACATATACCTTCGTTTCTTCGTGGGCAGAATGACCCATGGTAAATCGTTCTTCCCTTGTTTTTTCCAGTTCAGACATGAGTCTTGATTTTGTTTGCACCTCTGCTTCAAGGGATTGATGCTTCTGATATTTCCCCTAAAGTTTAGAAATCAGAGTTTTTGTCTAATGAAGCACAGTCTTCATGGGAAATGTTCACTCTATGTAAAGCCACCAAACACAGGTTCTCAAAGGGTCCCAGACTCAGAGGCCATAAAGAGTATTTTCCTGTCCCCACTGGCTTTAGGAAGTTTTCAGTAAATACTGTCCTGAGCTATGCTGAGCCTTATGATCTATGCCGAGCCTTATTTTAAAGGCTCAATAGACTGCCATAGGAATAAAAGAGTGTAACACACAGTGTCCTTCCTCATCAGAAAAGAGGAATAACTGATTTTTTTTTGGAAGTAGAGCACAATGAGAAAGATGATAGTTATAATAATGGTTTTTAAAAAAAAAAATTGAGAGTTTTTTTTGCATGCTGTGCCTGTTCTTGTAATCTATAAATTGATCCATTCAATATAGCACATTATTTTGCTCTTGTTCTAGGTGTTTCCTGTCCAACATCAATTGCTTCTGATTATGACAACACCACATGCTATAATTTTAGGTGAATAGAAAGGGGTAGGCACTTTCACCAAATTTCTTCTACTGAAACCTCTCTTTTGAAGTTAAGAGCCATGAATAGCAATTTAGGGAAGAAAAAAAAAAAACTCTGGTTAACTCATCTCTCTGAGAAGAGTAGAGAACAGGTATCACATGCTATAATTTTAGGTGATCAGAAACGCGTAGGAGCTTTCACCAAACTTCTACTGAAACCTCTCATTAGAACTTGAGACCCATGAACAACATTTTAGGAAAAACTTAAGAGCCATGAATAGCAATTGAGTTAACCAGGTTAACTAAATTGGATTTTAGTTAACCTGGTTAACTCTTATATTTCTGAGAAGAGTGGAGGACAGTTGCTTCAGAAGCATTGATGACTCTTCACCCTATTTCCCTTCTTAATGTCCCAAAATATCAAAAATCACATGGTTTGTCAGAAATTTCTTGAATTTGCAGTTGCTGTTTTGCCTGTAGGTCAATTTCAGATGAGTATTGTAACCATCAAATTCTATACAGAATAAATCTCCTTTGCAAATAACACCCCGATGTTTATGAAGATGAAGACATGGACTATTTAGAGGCAGAATTACTGTTTCTAACAGACAGTCTAATTTTTCCATTACATCACTCCCACTACAATTAACCAGATATACACTTACATTACCATAATATTTGTGCTGGATCTGAAAAAAAATTGATGTAATTTTTTACTTTTGGCATTGATGAATGCTTCACCATGAAAATATGTAAAGTATCCTATGCCCTTATCAATAAGCAATATCCTTGGTTAATGATTAAAAAATGTATATTCTGAATGGAAGTTCATTGTAAAAAACAGTTCTGTGCTTTCAACAACTGAAAAACTGCTGCTTTTTGTTTGATTCTTATTTTCTCAGTCTCACCTCTCCAACTTCATAAGGGAAAATGCACTTTTAGATTTTCTATTAATTTATTTCTTTAACTTCCCACTCCACTGACTTATTTTTGTTTCTAAACGGAATCTAATTGTACCCACACATACCCATTAACATTAACATAAAGAAAAACCTATTTCCTTCTCTAGAGATCTTAGGGTCTGCTCTGAGGCAATCAAGAGAACTGAGTGACCTGTATATTAGTTGGGTCTTCATAGCTCTTATCGGTTAAGATATTGACTTTCTCCATGATCCACTTCCCCAGATCATCTGCATCTCGCTTGAAAACTTGTAAGTGATAGGAATCCTCAAGCTTCTGACCCCTCTCAGCGACCCGCTCCTTGAAACTTTGATACCGAGTCAACACTTCCTGACGCCTCTCCTGGATCTCTTCTGCTGTTTCCAAAACCTTTGGCCCACTGCTCTCCACAACCTGCAAGTTAAAAAGATTCTGTTACTTGCTAGTTCTCAAATATTTAACATGTTGCCCCGCTTATATGTGTCAAGGTGTTTACTCATGTTGGACCTATATTCAGATATCCTGAAGTTTCTAGGGACTATTGTCAGAAGAGCTGTAGTATATTTACGTAATTTTTAACCAGACATAGCTTCTGTTTAGGTTAAAAATTCTTGATTATCCAGAAGACTCTCCTCACTTTTTACATAAATTTGTGCTAGCATTTAAGTTCTATAGATATAATTATATTGGACTGATCATGGAGCAAGTTTAAATCAGCAAAATCACATAATTTCAGATAGATAAAAAGAAATATAATGTTATTGCTTTCAAGGGCTAAAAAGGTGTTGAGAAGTGCTTATTATTTTTAACTTAATTTAATAAATAATTAAGAATGGCTTGCAATTAATTTAGTTAATGATATATGCAACAGTTTGAAAATTTTGTTTCCTTCATACTTAAAAATAAATCTCATATATTTACTCTTTACTTGCTTTACTCACAAACACTATAAATCAAAAGTTCAGCTATCTTCTGCCCAATTGTCACAAATTTCAAATTATTAGCATGTCTGCAATTTATTTTTGAAATATAAAAACTTTTACTCTAAAACAATATATAAGTATCCTTTTCCCAGAGTGGGAGCCAACCTGTTTGTGACAATATCCAGCAAAATCACCATAGGGTTCACCTTCATTCTTCTGGATATGGATACCATTTTCCCTAGCTTACCTCAGCCAAAATGTTTAATATAGAGTTTAAATTTTAATCTCCCATTATTCCTCCTAAGTATAATTGCTACTCTGTGAATTGCCATTACTGGCATGGCTATAGAATTAGATCATTACATGGAGACTCACGTTGTTACTAGGTGTTATTTAGCTTCAATCTCCCTACTTATTCTCTCTGGGAACCGACTTAAGTCATTACTGGGTCTTGGTGCTGCACAGACATAAGCTCAAGGTTATTGTTCACAAAAAATAGTTAAAAGTAAAATTATCTATTTGTTAAAAGCCAAATAATTATTAATGTTCCTGGGAAAGATAGTATAGAAAGTTTAAAGGAAACATCTTTCCTAATAATATTAATGACAAATTGCATGGAAGAGAAATATGTACTTACGGTTTCCTTTGGAAATTGCTCCATTTTTCCTAAAGGTTTAGAACCTGGCAAGATAAAATGTGTCAGAGAGAGAGAGAGAGAGAAATAATTCAAATGGAACTGTCCAGTCGAATTCAAATAGAAATATAGAAACGTTAAGTATGTGGGGGAAAAAAAAAAACCTCTTGCTTGGTCCTAGAATCCCATCAGCCATACACAATCGACATTATCTTTAGAAGACATACTCAGCTGAGGCAACTGCTAAGTTTTACAGATACTGGGTGACTCAGCAGTTTTGGGAGGCTCTGGCTTTCAAAGTTACTCAATAAGACTTAAAAAATGAAAGTAAGGTTTTTGGATGAAAAATTAGAAAAAAAACCCCATATATTTATAGGAAATACAGCTCAACAACTTCATCCAACTCAACTGCAGATTTTTCACAGTCTTTAAGTCAACGAATTATCCTGGCTTTTTCTAGAGAGTCTTTCACAAAATAAGATTTTATTCCTAACCTCAACAATTTGGTCTTTAAAAATCTGATTTAGTTGTACTCTTAATCATTTAAATGGAAGGAACAAAAAAAGTTATATGATGTGTTCATTAATATTTTGTAAAACAAAAATTAGGATACCTTATTTGACAAACCAATGATGTCACAAAAAAGTTGAAAATATGGCTGACTTCTGATATATATGGTATAAATCATCCTACTGTATGTATTAATTTTAATGGAGAACAAAAAGAGGTAGACTTTTTCCATAGGCATAGTTATTTTAGACTAACTTACAAAAATGAAACAAACAAGCAAAAAGAAAATAGTGGGATGCTCTTAGACCTTTCTACAAGCCAGTGGGGCTATCCATGC
CAGGGGAAGATAAGAGGCAGGAGTCCTGGGTATAAGCCAGCCACTCAAGGTTTATATCTCATATAATCAGTTAAAACCCTGATAACATAATCAATAATTGGAAACTTCTTCAAGGGCCCATACATATACCTTCGTTTCTTCGTGGGCAGAATGACCCATGGTAAATCGTTCTTCCCTTGTTTTTTCCAGTTCAGACATGAGTCTTGATTTTGTTTGCACCTCTGCTTCAAGGGATTGATGCTTCTGATATTTCCCCTAAAGTTTAGAAATCAGAGTTTTTGTCTAATGAAGCACAGTCTTCATGGGAAATGTTCACTCTATGTAAAGCCACCAAACACAGGTTCTCAAAGGGTCCCAGACTCAGAGGCCATAAAGAGTATTTTCCTGTCCCCACTGGCTTTAGGAAGTTTTCAGTAAATACTGTCCTGAGCTATGCTGAGCCTTATGATCTATGCCGAGCCTTATTTTAAAGGCTCAATAGACTGCCATAGGAATAAAAGAGTGTAACACACAGTGTCCTTCCTCATCAGAAAAGAGGAATAACTGATTTTTTTTTGGAAGTAGAGCACAATGAGAAAGATGATAGTTATAATAATGGTTTTTAAAAAAAAAAATTGAGAGTTTTTTTTGCATGCTGTGCCTGTTCTTGTAATCTATAAATTGATCCATTCAATATAGCACATTATTTTGCTCTTGTTCTAGGTGTTTCCTGTCCAACATCAATTGCTTCTGATTATGACAACACCACATGCTATAATTTTAGGTGAATAGAAAGGGGTAGGCACTTTCACCAAATTTCTTCTACTGAAACCTCTCTTTTGAAGTTAAGAGCCATGAATAGCAATTTAGGGAAGAAAAAAAAAAAACTCTGGTTAACTCATCTCTCTGAGAAGAGTAGAGAACAGGTATCACATGCTATAATTTTAGGTGATCAGAAACGCGTAGGAGCTTTCACCAAACTTCTACTGAAACCTCTCATTAGAACTTGAGACCCATGAACAACATTTTAGGAAAAACTTAAGAGCCATGAATAGCAATTGAGTTAACCAGGTTAACTAAATTGGATTTTAGTTAACCTGGTTAACTCTTATATTTCTGAGAAGAGTGGAGGACAGTTGCTTCAGAAGCATTGATGACTCTTCACCCTATTTCCCTTCTTAATGTCCCAAAATATCAAAAATCACATGGTTTGTCAGAAATTTCTTGAATTTGCAGTTGCTGTTTTGCCTGTAGGTCAATTTCAGATGAGTATTGTAACCATCAAATTCTATACAGAATAAATCTCCTTTGCAAATAACACCCCGATGTTTATGAAGATGAAGACATGGACTATTTAGAGGCAGAATTACTGTTTCTAACAGACAGTCTAATTTTTCCATTACATCACTCCCACTACAATTAACCAGATATACACTTACATTACCATAATATTTGTGCTGGATCTGAAAAAAAATTGATGTAATTTTTTACTTTTGGCATTGATGAATGCTTCACCATGAAAATATGTAAAGTATCCTATGCCCTTATCAATAAGCAATATCCTTGGTTAATGATTAAAAAATGTATATTCTGAATGGAAGTTCATTGTAAAAAACAGTTCTGTGCTTTCAACAACTGAAAAACTGCTGCTTTTTGTTTGATTCTTATTTTCTCAGTCTCACCTCTCCAACTTCATAAGGGAAAATGCACTTTTAGATTTTCTATTAATTTATTTCTTTAACTTCCCACTCCACTGACTTATTTTTGTTTCTAAACGGAATCTAATTGTACCCACACATACCCATTAACATTAACATAAAGAAAAACCTATTTCCTTCTCTAGAGATCTTAGGGTCTGCTCTGAGGCAATCAAGAGAACTGAGTGACCTGTATATTAGTTGGGTCTTCATAGCTCTTATCGGTTAAGATATTGACTTTCTCCATGATCCACTTCCCCAGATCATCTGCATCTCGCTTGAAAACTTGTAAGTGATAGGAATCCTCAAGCTTCTGACCCCTCTCAGCGACCCGCTCCTTGAAACTTTGATACCGAGTCAACACTTCCTGACACCTCTCCTGGATCTCTTCTGCTGTTTCCAAAACCTTTGGCCCACTGCTCTCCACAACCTGCAAGTTAAAAAGATTCTGTTACTTGCTAGTTCTCAAATATTTAACATGTTGCCCCGCTTATATGTGTCAAGGTGTTTACTCATGTTGGACCTATATTCAGATATCCTGAAGTTTCTAGGGACTATTGTCAGAAGAGCTGTAGTATATTTACGTAATTTTTAACCAGACATAGCTTCTGTTTAGGTTAAAAATTCTTGATTATCCAGAAGACTCTCCTCACTTTTTACATAAATTTGTGCTAGCATTTAAGTTCTATAGATATAATTATATTGGACTGATCATGGAGCAAGTTTAAATCAGCAAAATCACATAATTTCAGATAGATAAAAAGAAATATAATGTTATTGCTTTCAAGGGCTAAAAAGGTGTTGAGAAGTGCTTATTATTTTTAACTTAATTTAATAAATAATTAAGAATGGCTTGCAATTAATTTAGTTAATGATATATGCAACAGTTTGAAAATTTTGTTTCCTTCATACTTAAAAATAAATCTCATATATTTACTCTTTACTTGCTTTACTCACAAACACTATAAATCAAAAGTTCAGCTATCTTCTGCCCAATTGTCACAAATTTCAAATTATTAGCATGTCTGCAATTTATTTTTGAAATATAAAAACTTTTACTCTAAAACAATATATAAGTATCCTTTTCCCAGAGTGGGAGCCAACCTGTTTGTGACAATATCCAGCAAAATCACCATAGGGTTCACCTTCATTCTTCTGGATATGGATACCATTTTCCCTAGCTTACCTCAGCCAAAATGTTTAATATAGAGTTTAAATTTTAATCTCCCATTATTCCTCCTAAGTATAATTGCTACTCTGTGAATTGCCATTACTGGCATGGCTATAGAATTAGATCATTACATGGAGACTCACGTTGTTACTAGGTGTTATTTAGCTTCAATCTCCCTACTTATTCTCTCTGGGAACCGACTTAAGTCATTACTGGGTCTTGGTGCTGCACAGACATAAGCTCAAGGTTATTGTTCACAAAAAATAGTTAAAAGTAAAATTATCTATTTGTTAAAAGCCAAATAATTATTAATGTTCCTGGGAAAGATAGTATAGAAAGTTTAAAGGAAACATCTTTCCTAATAATATTAATGACAAATTGCATGGAAGAGAAATATGTACTTACGGTTTCCTTTGGAAATTGCTCCATTTTTCCTAAAGGTTTAGAACCTGGCAAGATAAAATGTGTCAGAGAGAGAGAGAGAGAGAAATAATTCAAATGGAACTGTCCAGTCGAATTCAAATAGAAATATAGAAACGTTAAGTATGTGGGGGAAAAAAAAAAACCTCTTGCTTGGTCCTAGAATCCCATCAGCCATACACAATCGACATTATCTTTAGAAGACATACTCAGCTGAGGCAACTGCTAAGTTTTACAGATACTGGGTGACTCAGCAGTTTTGGGAGGCTCTGGCTTTCAAAGTTACTCAATAAGACTTAAAAAATGAAAGTAAGGTTTTTGGATGAAAAATTAGAAAAAAAACCCCATATATTTATAGGAAATACAGCTCAACAACTTCATCCAACTCAACTGCAGATTTTTCACAGTCTTTAAGTCAACGAATTATCCTGGCTTTTTCTAGAGAGTCTTTCACAAAATAAGATTTTATTCCTAACCTCAACAATTTGGTCTTTAAAAATCTGATTTAGTTGTACTCTTAATCATTTAAATGGAAGGAACAAAAAAAGTTATATGATGTGTTCATTAATATTTTGTAAAACAAAAATTAGGATACCTTATTTGACAAACCAATGATGTCACAAAAAAGTTGAAAATATGGCTGACTTCTGATATATATGGTATAAATCATCCTACTGTATGTATTAATTTTAATGGAGAACAAAAAGAGGTAGACTTTTTCCATAGGCATAGTTATTTTAGACTAACTTACAAAAATGAAACAAACAAGCAAAAAGAAAATAGTGGGATGCTCTTAGACCTTTCTACAAGCCAGTGGGGCTATCCATGC
Task1_train_1909
Here is a genetic alteration in SPTA1 (spectrin alpha, erythrocytic 1) on Chromosome 1. Based on the data, is it a benign variant or a cause of disease?
Pathogenic; not provided
CAGGGGAAGATAAGAGGCAGGAGTCCTGGGTATAAGCCAGCCACTCAAGGTTTATATCTCATATAATCAGTTAAAACCCTGATAACATAATCAATAATTGGAAACTTCTTCAAGGGCCCATACATATACCTTCGTTTCTTCGTGGGCAGAATGACCCATGGTAAATCGTTCTTCCCTTGTTTTTTCCAGTTCAGACATGAGTCTTGATTTTGTTTGCACCTCTGCTTCAAGGGATTGATGCTTCTGATATTTCCCCTAAAGTTTAGAAATCAGAGTTTTTGTCTAATGAAGCACAGTCTTCATGGGAAATGTTCACTCTATGTAAAGCCACCAAACACAGGTTCTCAAAGGGTCCCAGACTCAGAGGCCATAAAGAGTATTTTCCTGTCCCCACTGGCTTTAGGAAGTTTTCAGTAAATACTGTCCTGAGCTATGCTGAGCCTTATGATCTATGCCGAGCCTTATTTTAAAGGCTCAATAGACTGCCATAGGAATAAAAGAGTGTAACACACAGTGTCCTTCCTCATCAGAAAAGAGGAATAACTGATTTTTTTTTGGAAGTAGAGCACAATGAGAAAGATGATAGTTATAATAATGGTTTTTAAAAAAAAAAATTGAGAGTTTTTTTTGCATGCTGTGCCTGTTCTTGTAATCTATAAATTGATCCATTCAATATAGCACATTATTTTGCTCTTGTTCTAGGTGTTTCCTGTCCAACATCAATTGCTTCTGATTATGACAACACCACATGCTATAATTTTAGGTGAATAGAAAGGGGTAGGCACTTTCACCAAATTTCTTCTACTGAAACCTCTCTTTTGAAGTTAAGAGCCATGAATAGCAATTTAGGGAAGAAAAAAAAAAAACTCTGGTTAACTCATCTCTCTGAGAAGAGTAGAGAACAGGTATCACATGCTATAATTTTAGGTGATCAGAAACGCGTAGGAGCTTTCACCAAACTTCTACTGAAACCTCTCATTAGAACTTGAGACCCATGAACAACATTTTAGGAAAAACTTAAGAGCCATGAATAGCAATTGAGTTAACCAGGTTAACTAAATTGGATTTTAGTTAACCTGGTTAACTCTTATATTTCTGAGAAGAGTGGAGGACAGTTGCTTCAGAAGCATTGATGACTCTTCACCCTATTTCCCTTCTTAATGTCCCAAAATATCAAAAATCACATGGTTTGTCAGAAATTTCTTGAATTTGCAGTTGCTGTTTTGCCTGTAGGTCAATTTCAGATGAGTATTGTAACCATCAAATTCTATACAGAATAAATCTCCTTTGCAAATAACACCCCGATGTTTATGAAGATGAAGACATGGACTATTTAGAGGCAGAATTACTGTTTCTAACAGACAGTCTAATTTTTCCATTACATCACTCCCACTACAATTAACCAGATATACACTTACATTACCATAATATTTGTGCTGGATCTGAAAAAAAATTGATGTAATTTTTTACTTTTGGCATTGATGAATGCTTCACCATGAAAATATGTAAAGTATCCTATGCCCTTATCAATAAGCAATATCCTTGGTTAATGATTAAAAAATGTATATTCTGAATGGAAGTTCATTGTAAAAAACAGTTCTGTGCTTTCAACAACTGAAAAACTGCTGCTTTTTGTTTGATTCTTATTTTCTCAGTCTCACCTCTCCAACTTCATAAGGGAAAATGCACTTTTAGATTTTCTATTAATTTATTTCTTTAACTTCCCACTCCACTGACTTATTTTTGTTTCTAAACGGAATCTAATTGTACCCACACATACCCATTAACATTAACATAAAGAAAAACCTATTTCCTTCTCTAGAGATCTTAGGGTCTGCTCTGAGGCAATCAAGAGAACTGAGTGACCTGTATATTAGTTGGGTCTTCATAGCTCTTATCGGTTAAGATATTGACTTTCTCCATGATCCACTTCCCCAGATCATCTGCATCTCGCTTGAAAACTTGTAAGTGATAGGAATCCTCAAGCTTCTGACCCCTCTCAGCGACCCGCTCCTTGAAACTTTGATACCGAGTCAACACTTCCTGACGCCTCTCCTGGATCTCTTCTGCTGTTTCCAAAACCTTTGGCCCACTGCTCTCCACAACCTGCAAGTTAAAAAGATTCTGTTACTTGCTAGTTCTCAAATATTTAACATGTTGCCCCGCTTATATGTGTCAAGGTGTTTACTCATGTTGGACCTATATTCAGATATCCTGAAGTTTCTAGGGACTATTGTCAGAAGAGCTGTAGTATATTTACGTAATTTTTAACCAGACATAGCTTCTGTTTAGGTTAAAAATTCTTGATTATCCAGAAGACTCTCCTCACTTTTTACATAAATTTGTGCTAGCATTTAAGTTCTATAGATATAATTATATTGGACTGATCATGGAGCAAGTTTAAATCAGCAAAATCACATAATTTCAGATAGATAAAAAGAAATATAATGTTATTGCTTTCAAGGGCTAAAAAGGTGTTGAGAAGTGCTTATTATTTTTAACTTAATTTAATAAATAATTAAGAATGGCTTGCAATTAATTTAGTTAATGATATATGCAACAGTTTGAAAATTTTGTTTCCTTCATACTTAAAAATAAATCTCATATATTTACTCTTTACTTGCTTTACTCACAAACACTATAAATCAAAAGTTCAGCTATCTTCTGCCCAATTGTCACAAATTTCAAATTATTAGCATGTCTGCAATTTATTTTTGAAATATAAAAACTTTTACTCTAAAACAATATATAAGTATCCTTTTCCCAGAGTGGGAGCCAACCTGTTTGTGACAATATCCAGCAAAATCACCATAGGGTTCACCTTCATTCTTCTGGATATGGATACCATTTTCCCTAGCTTACCTCAGCCAAAATGTTTAATATAGAGTTTAAATTTTAATCTCCCATTATTCCTCCTAAGTATAATTGCTACTCTGTGAATTGCCATTACTGGCATGGCTATAGAATTAGATCATTACATGGAGACTCACGTTGTTACTAGGTGTTATTTAGCTTCAATCTCCCTACTTATTCTCTCTGGGAACCGACTTAAGTCATTACTGGGTCTTGGTGCTGCACAGACATAAGCTCAAGGTTATTGTTCACAAAAAATAGTTAAAAGTAAAATTATCTATTTGTTAAAAGCCAAATAATTATTAATGTTCCTGGGAAAGATAGTATAGAAAGTTTAAAGGAAACATCTTTCCTAATAATATTAATGACAAATTGCATGGAAGAGAAATATGTACTTACGGTTTCCTTTGGAAATTGCTCCATTTTTCCTAAAGGTTTAGAACCTGGCAAGATAAAATGTGTCAGAGAGAGAGAGAGAGAGAAATAATTCAAATGGAACTGTCCAGTCGAATTCAAATAGAAATATAGAAACGTTAAGTATGTGGGGGAAAAAAAAAAACCTCTTGCTTGGTCCTAGAATCCCATCAGCCATACACAATCGACATTATCTTTAGAAGACATACTCAGCTGAGGCAACTGCTAAGTTTTACAGATACTGGGTGACTCAGCAGTTTTGGGAGGCTCTGGCTTTCAAAGTTACTCAATAAGACTTAAAAAATGAAAGTAAGGTTTTTGGATGAAAAATTAGAAAAAAAACCCCATATATTTATAGGAAATACAGCTCAACAACTTCATCCAACTCAACTGCAGATTTTTCACAGTCTTTAAGTCAACGAATTATCCTGGCTTTTTCTAGAGAGTCTTTCACAAAATAAGATTTTATTCCTAACCTCAACAATTTGGTCTTTAAAAATCTGATTTAGTTGTACTCTTAATCATTTAAATGGAAGGAACAAAAAAAGTTATATGATGTGTTCATTAATATTTTGTAAAACAAAAATTAGGATACCTTATTTGACAAACCAATGATGTCACAAAAAAGTTGAAAATATGGCTGACTTCTGATATATATGGTATAAATCATCCTACTGTATGTATTAATTTTAATGGAGAACAAAAAGAGGTAGACTTTTTCCATAGGCATAGTTATTTTAGACTAACTTACAAAAATGAAACAAACAAGCAAAAAGAAAATAGTGGGATGCTCTTAGACCTTTCTACAAGCCAGTGGGGCTATCCATGC
CAGGGGAAGATAAGAGGCAGGAGTCCTGGGTATAAGCCAGCCACTCAAGGTTTATATCTCATATAATCAGTTAAAACCCTGATAACATAATCAATAATTGGAAACTTCTTCAAGGGCCCATACATATACCTTCGTTTCTTCGTGGGCAGAATGACCCATGGTAAATCGTTCTTCCCTTGTTTTTTCCAGTTCAGACATGAGTCTTGATTTTGTTTGCACCTCTGCTTCAAGGGATTGATGCTTCTGATATTTCCCCTAAAGTTTAGAAATCAGAGTTTTTGTCTAATGAAGCACAGTCTTCATGGGAAATGTTCACTCTATGTAAAGCCACCAAACACAGGTTCTCAAAGGGTCCCAGACTCAGAGGCCATAAAGAGTATTTTCCTGTCCCCACTGGCTTTAGGAAGTTTTCAGTAAATACTGTCCTGAGCTATGCTGAGCCTTATGATCTATGCCGAGCCTTATTTTAAAGGCTCAATAGACTGCCATAGGAATAAAAGAGTGTAACACACAGTGTCCTTCCTCATCAGAAAAGAGGAATAACTGATTTTTTTTTGGAAGTAGAGCACAATGAGAAAGATGATAGTTATAATAATGGTTTTTAAAAAAAAAAATTGAGAGTTTTTTTTGCATGCTGTGCCTGTTCTTGTAATCTATAAATTGATCCATTCAATATAGCACATTATTTTGCTCTTGTTCTAGGTGTTTCCTGTCCAACATCAATTGCTTCTGATTATGACAACACCACATGCTATAATTTTAGGTGAATAGAAAGGGGTAGGCACTTTCACCAAATTTCTTCTACTGAAACCTCTCTTTTGAAGTTAAGAGCCATGAATAGCAATTTAGGGAAGAAAAAAAAAAAACTCTGGTTAACTCATCTCTCTGAGAAGAGTAGAGAACAGGTATCACATGCTATAATTTTAGGTGATCAGAAACGCGTAGGAGCTTTCACCAAACTTCTACTGAAACCTCTCATTAGAACTTGAGACCCATGAACAACATTTTAGGAAAAACTTAAGAGCCATGAATAGCAATTGAGTTAACCAGGTTAACTAAATTGGATTTTAGTTAACCTGGTTAACTCTTATATTTCTGAGAAGAGTGGAGGACAGTTGCTTCAGAAGCATTGATGACTCTTCACCCTATTTCCCTTCTTAATGTCCCAAAATATCAAAAATCACATGGTTTGTCAGAAATTTCTTGAATTTGCAGTTGCTGTTTTGCCTGTAGGTCAATTTCAGATGAGTATTGTAACCATCAAATTCTATACAGAATAAATCTCCTTTGCAAATAACACCCCGATGTTTATGAAGATGAAGACATGGACTATTTAGAGGCAGAATTACTGTTTCTAACAGACAGTCTAATTTTTCCATTACATCACTCCCACTACAATTAACCAGATATACACTTACATTACCATAATATTTGTGCTGGATCTGAAAAAAAATTGATGTAATTTTTTACTTTTGGCATTGATGAATGCTTCACCATGAAAATATGTAAAGTATCCTATGCCCTTATCAATAAGCAATATCCTTGGTTAATGATTAAAAAATGTATATTCTGAATGGAAGTTCATTGTAAAAAACAGTTCTGTGCTTTCAACAACTGAAAAACTGCTGCTTTTTGTTTGATTCTTATTTTCTCAGTCTCACCTCTCCAACTTCATAAGGGAAAATGCACTTTTAGATTTTCTATTAATTTATTTCTTTAACTTCCCACTCCACTGACTTATTTTTGTTTCTAAACGGAATCTAATTGTACCCACACATACCCATTAACATTAACATAAAGAAAAACCTATTTCCTTCTCTAGAGATCTTAGGGTCTGCTCTGAGGCAATCAAGAGAACTGAGTGACCTGTATATTAGTTGGGTCTTCATAGCTCTTATCGGTTAAGATATTGACTTTCTCCATGATCCACTTCCCCAGATCATCTGCATCTCGCTTGAAAACTTGTAAGTGATAGGAATCCTCAAGCTTCTGACCCCTCTCAGCGACCCGCTCCTTGAAACTTTGATACCGAGTCAACACTTCCTGACTCCTCTCCTGGATCTCTTCTGCTGTTTCCAAAACCTTTGGCCCACTGCTCTCCACAACCTGCAAGTTAAAAAGATTCTGTTACTTGCTAGTTCTCAAATATTTAACATGTTGCCCCGCTTATATGTGTCAAGGTGTTTACTCATGTTGGACCTATATTCAGATATCCTGAAGTTTCTAGGGACTATTGTCAGAAGAGCTGTAGTATATTTACGTAATTTTTAACCAGACATAGCTTCTGTTTAGGTTAAAAATTCTTGATTATCCAGAAGACTCTCCTCACTTTTTACATAAATTTGTGCTAGCATTTAAGTTCTATAGATATAATTATATTGGACTGATCATGGAGCAAGTTTAAATCAGCAAAATCACATAATTTCAGATAGATAAAAAGAAATATAATGTTATTGCTTTCAAGGGCTAAAAAGGTGTTGAGAAGTGCTTATTATTTTTAACTTAATTTAATAAATAATTAAGAATGGCTTGCAATTAATTTAGTTAATGATATATGCAACAGTTTGAAAATTTTGTTTCCTTCATACTTAAAAATAAATCTCATATATTTACTCTTTACTTGCTTTACTCACAAACACTATAAATCAAAAGTTCAGCTATCTTCTGCCCAATTGTCACAAATTTCAAATTATTAGCATGTCTGCAATTTATTTTTGAAATATAAAAACTTTTACTCTAAAACAATATATAAGTATCCTTTTCCCAGAGTGGGAGCCAACCTGTTTGTGACAATATCCAGCAAAATCACCATAGGGTTCACCTTCATTCTTCTGGATATGGATACCATTTTCCCTAGCTTACCTCAGCCAAAATGTTTAATATAGAGTTTAAATTTTAATCTCCCATTATTCCTCCTAAGTATAATTGCTACTCTGTGAATTGCCATTACTGGCATGGCTATAGAATTAGATCATTACATGGAGACTCACGTTGTTACTAGGTGTTATTTAGCTTCAATCTCCCTACTTATTCTCTCTGGGAACCGACTTAAGTCATTACTGGGTCTTGGTGCTGCACAGACATAAGCTCAAGGTTATTGTTCACAAAAAATAGTTAAAAGTAAAATTATCTATTTGTTAAAAGCCAAATAATTATTAATGTTCCTGGGAAAGATAGTATAGAAAGTTTAAAGGAAACATCTTTCCTAATAATATTAATGACAAATTGCATGGAAGAGAAATATGTACTTACGGTTTCCTTTGGAAATTGCTCCATTTTTCCTAAAGGTTTAGAACCTGGCAAGATAAAATGTGTCAGAGAGAGAGAGAGAGAGAAATAATTCAAATGGAACTGTCCAGTCGAATTCAAATAGAAATATAGAAACGTTAAGTATGTGGGGGAAAAAAAAAAACCTCTTGCTTGGTCCTAGAATCCCATCAGCCATACACAATCGACATTATCTTTAGAAGACATACTCAGCTGAGGCAACTGCTAAGTTTTACAGATACTGGGTGACTCAGCAGTTTTGGGAGGCTCTGGCTTTCAAAGTTACTCAATAAGACTTAAAAAATGAAAGTAAGGTTTTTGGATGAAAAATTAGAAAAAAAACCCCATATATTTATAGGAAATACAGCTCAACAACTTCATCCAACTCAACTGCAGATTTTTCACAGTCTTTAAGTCAACGAATTATCCTGGCTTTTTCTAGAGAGTCTTTCACAAAATAAGATTTTATTCCTAACCTCAACAATTTGGTCTTTAAAAATCTGATTTAGTTGTACTCTTAATCATTTAAATGGAAGGAACAAAAAAAGTTATATGATGTGTTCATTAATATTTTGTAAAACAAAAATTAGGATACCTTATTTGACAAACCAATGATGTCACAAAAAAGTTGAAAATATGGCTGACTTCTGATATATATGGTATAAATCATCCTACTGTATGTATTAATTTTAATGGAGAACAAAAAGAGGTAGACTTTTTCCATAGGCATAGTTATTTTAGACTAACTTACAAAAATGAAACAAACAAGCAAAAAGAAAATAGTGGGATGCTCTTAGACCTTTCTACAAGCCAGTGGGGCTATCCATGC
Task1_train_1910
A variant affecting Chromosome 1, within the gene CADM3 (cell adhesion molecule 3), has been observed. Determine if it's benign or associated with disease.
Pathogenic; Charcot-Marie-Tooth disease, axonal, type 2FF
TGCAGTTTTCTACCAGCTACCTCTTGTGTAAATGAATGTGCAATCCAAGAGCTGGTTTAGCCTTTTCCCCATTTTAGTTTTAGGATTATTAGTCACAACTGCTTCTCCTGTTCTTGTTCTTATATGTAGGTGGTGGCAGGAAGGCCAAACGTAGAACAACAGATATGTCTGTGTGTTTTCAGAGGTAAATGGTAGAACCATATCAGAAAAGACACATGTGGAGTGGTATGTGCAGATTTGGGGTGCCTTTACTCCTCTAAATGTTCGTGGCCCTGTCAGTTCATTCAGGAAACATTTAACAAGTGACTATTTGTTTTTCTGTGTATTCAAAGTAAGTAAAACTAAGATCTGTCTTTCCCTCCACCGCCACCACCACCTCTTTTCCTTCCCCCATGAAACCTTACGGGTACACAGAGACCTTGTGTACACAAGGGCCTTGGATGGTCTGAACTAGATGAGGTGTACTTTGGCTCAGAAATGGGAGGAGGGGCTAGGGGTCCTCAGGAAACTAACACTCTTCTACTCCTGCAGACAGCCAGCCCTGGACATCTGATGAAACAGTGGTGGCTGGTGGCACCGTGGTGCTCAAGTGCCAAGTGAAAGATCACGAGGACTCATCCCTGCAATGGTCTAACCCTGCTCAGCAGACTCTCTACTTTGGGGAGAAGAGAGGTAGTATCTCATGAGTTATCTTTCTCCGTGAAAACCATGGGCTAGAGAAGGGGACTGCAGACACCGAGGGGAACTGTTCCTGTCATCCAGAGGCTGAGAAACATGGTGGTCTGCTGTTTGAGGATGTAACAAGCCATGAGTTCCCCAACTGGTTCCAGTATTGCAGCTCTGATTTACAGCATGCATAATCTTACAGGGTTCTGGAGTGACTTCACCCCACAGGAGGAACTCTAACAGGAAGCTGAAGTCAGTGTTGCCCTAGGTATCTGACAATGAAGCTCACGAAATCCAAACTATTTTCTGAGTAGCTCTTAGGCTACTATGTCTAATGACCCAGAAAAGTGATTGAATAACTTAAAGACTGCTTAAACTCAGGAGCAGTTATTTTTTCCCCACCCACCATACTAGACCCCTTCCCCCAAAGAAGCTGGCCTGGGATTGGAAGGTAAACATGAAAGGTGCCAGTAAAATCCTAGCTTTCCATTCTCTTGATTTCCCCAGCCCTTCGAGATAATCGAATTCAGCTGGTTACCTCTACGCCCCACGAGCTCAGCATCAGCATCAGCAATGTGGCCCTGGCAGACGAGGGCGAGTACACCTGCTCAATCTTCACTATGCCTGTGCGAACTGCCAAGTCCCTCGTCACTGTGCTAGGTGAGACTCCCAAACCCCAGTGTCTCTACAGCATGCTTCCTTGCAAACAAACCTCCCTAGATGGGTCCCTGAAGCAGCTGGGAGCCAGGCAAGTCTCCAAGCACTTTAGGAAAGTTCAGCCTGTGTTCCCCTGGCAATGGGATAAAATGTAAAAAGAAATGGGTTTTAATCCTTTGTGCTCTACTTGCTGTTTGATCTAGGACAAGGTTCTTACTCTCTTTGAGTCTGAATTTTCTCTTATAACAGAGAGATGATCATACCCCTTCTACTTACCTCCCAAGATGGTGTGAGGAAAACACAAGACATGCATGTGTTATAATTTCCAAAATAAGTACCCCAGTTGCTTACATGCTCTCATCTTCATCCTATATTTCATCCTATATTTCAACTTCCTTCTTTGCGTCTCTGAGACTCACACTATTTCTGTGGCCACCCAATTGTGCTGTAAGTGGAGGGTCATATATCATGCCTGTGCTATGGCATTGCTCCTCACTGCCATGCTGTCTCCCGCAGGCCTTCCTTTCTGGTCCTCAGGGAGGAGATCAAAAAGAAAGATGATTTATCTAGTCTTCTACCCATCAGAAATTATAGTAGAACCCAGGTACGCAGAGAAGCCATCTCCACAGGGAGAGCAGAAGTGTGACCCCATGGGGCCTCTCCTTCCTATCCTGGCCATCCCCTATCCATGGCAGGAATTCCACAGAAGCCCATCATCACTGGTTATAAATCTTCATTACGGGAAAAAGACACAGCCACCCTAAACTGTCAGTCTTCTGGGAGCAAGCCTGCAGCCCGGCTCACCTGGAGAAAGGGTGACCAAGAACTCCACGGTGAGTACCTCCTGCCTTGGGGTTACAGGAGAAAGTGGTGCTGGAAAGAGAGAGAAGTGCCTGTCTGTGAACGTACACAGGAGGCATGGTATGGAAGAGAAAAGGGGAATGACATATATTTTGTGTGCACTCAAGTGCCTATGTGTGTGTTGGGGCCTACATTCTCCCTGCCACAACTTTCTAAGTTTATCTAGGTTGAGACTCACCATCTGTACGTCTACAATGAGGCCCACATGATATCTGTATGTTAGGTTTACTCTGTGTCTCTCTCTGTGTGTTTGTGTGTGTGCCACTGTTTCTGCACTCTAGGAGAACCAACCCGCATACAGGAAGATCCCAATGGTAAAACCTTCACTGTCAGCAGCTCGGTGACATTCCAGGTTACCCGGGAGGATGATGGGGCGAGCATCGTGTGCTCTGTGAACCATGAATCTCTAAAGGGAGCTGACAGATCCACCTCTCAACGCATTGAAGTTTTATGTATGTCATGGGCTTGGGGATGAAGAAGGATGAGGTATGAGATGAGGACCAGGGAGAAAGAGAATGCAGGTGACTGTGCATGAAACAACACGCACAGTTAAGTGAATAGGTAAAAAATGAAACAAAGACTGCCAGGACTAGGCCAGGGTTGGCAAACTCTTTACAGAGGGCCCAGTAATGAATATTTTAGGCTTTGAGACCCATACAGCCTCTGTGTCAACTACTTAATTCTCCGTTGTTGTAGGGACGCAGTCATAGACAATATGTAAACAAACGAGCTGGGCTGTGTTCCAGTAAAACTTTATTTACAAAAGAATGCAGGTGGCAGGATTTGGTCCAAGGGGATACCAACCCGTGGTCTAGGCCAGTATAATGTAGCCAGGCTGCAAACTGTTGTCGTAACTGTGGTAACTCAGGATTCCCAGGAAGTAGTTTCTAGTCTGCACTCCACCACTTACTAGCTGTGTGATATTCAGAAGATTACTTTACCCCACTGAGCTTGATTCTATATTTGCTAAGTGAAAGAGATGAGCGTGGGGATCACTACAGTTTTATCTTGGTTTAACAATTTATGATTTCAAGAAAATATGGGTGGTAGGAAAGCACAGTTTCCCTGGCATCATTATTCCCAGATCTTTTCCTTACTGACTGCTCTTCTATTTGCCCCAGCTCCATGTATTTTCCTGGGATTCTGACCTGAAATGGCCACTGTCACTGTCATTACTCCTGGCCCTTCCCAGGACACTCACACCCTCTGTGGAATTTGCCTTTAGTATGGTTAGGACACTTCTGAGGAAGTTTGGAAACGGGAATTTCTCATCTGAGGAAATTCAGAAATTTGTAAAGAACAGCCTCTCTGGGTGGAGGAACCAAAGGGAAAAGAATCAGCTAAAGTCCAATGGGAGAAGTTAGAGTTAGGAAATGGTGTATTTCTTGTCCTAACTTACCTAAAAGTTGGGCAGTTTTCAAAATAACCAAAGCCCTTCATCCTCTTCTTGTGGAGTCGACCTAGGCCCAATTATTTTCCTAACTTCAGTGTTATTTAATCATATCTTAGACCCATTACTCAAACTTTAACCTGAGGTAGGTTTAGGGTGCATCACTATTCATTTGGCAGACTCAATCCACAGGCCGACAATCCGGACTCTAGCCGCAGTGCTGCCGCTTACTAGCTGTGCTCCTTTGGCCAAAGCATTTCATCTTTCTGTGGCTCCTGCTTACTTTGCTGAGTTATTGTGAGGATAAATAAAACAATGCATGTGAAAGAACTTTGTAAATGTCAAAGTTCTATATTCCTATAAGGTGCTTCTCTGATTATTAGTTCCTAGTGTGAGGCCCTGACCTGGAGCTTTTCCCCCCGCCCCTTGGTCCCTGGCCAGAGCTAAAGCCTTGGTCCCCTGCCTGAGCCCCAAAGACTCCTCTGTTAGATACCAGACCATCTGGCAGTTACTCGCCAGGGA
TGCAGTTTTCTACCAGCTACCTCTTGTGTAAATGAATGTGCAATCCAAGAGCTGGTTTAGCCTTTTCCCCATTTTAGTTTTAGGATTATTAGTCACAACTGCTTCTCCTGTTCTTGTTCTTATATGTAGGTGGTGGCAGGAAGGCCAAACGTAGAACAACAGATATGTCTGTGTGTTTTCAGAGGTAAATGGTAGAACCATATCAGAAAAGACACATGTGGAGTGGTATGTGCAGATTTGGGGTGCCTTTACTCCTCTAAATGTTCGTGGCCCTGTCAGTTCATTCAGGAAACATTTAACAAGTGACTATTTGTTTTTCTGTGTATTCAAAGTAAGTAAAACTAAGATCTGTCTTTCCCTCCACCGCCACCACCACCTCTTTTCCTTCCCCCATGAAACCTTACGGGTACACAGAGACCTTGTGTACACAAGGGCCTTGGATGGTCTGAACTAGATGAGGTGTACTTTGGCTCAGAAATGGGAGGAGGGGCTAGGGGTCCTCAGGAAACTAACACTCTTCTACTCCTGCAGACAGCCAGCCCTGGACATCTGATGAAACAGTGGTGGCTGGTGGCACCGTGGTGCTCAAGTGCCAAGTGAAAGATCACGAGGACTCATCCCTGCAATGGTCTAACCCTGCTCAGCAGACTCTCTACTTTGGGGAGAAGAGAGGTAGTATCTCATGAGTTATCTTTCTCCGTGAAAACCATGGGCTAGAGAAGGGGACTGCAGACACCGAGGGGAACTGTTCCTGTCATCCAGAGGCTGAGAAACATGGTGGTCTGCTGTTTGAGGATGTAACAAGCCATGAGTTCCCCAACTGGTTCCAGTATTGCAGCTCTGATTTACAGCATGCATAATCTTACAGGGTTCTGGAGTGACTTCACCCCACAGGAGGAACTCTAACAGGAAGCTGAAGTCAGTGTTGCCCTAGGTATCTGACAATGAAGCTCACGAAATCCAAACTATTTTCTGAGTAGCTCTTAGGCTACTATGTCTAATGACCCAGAAAAGTGATTGAATAACTTAAAGACTGCTTAAACTCAGGAGCAGTTATTTTTTCCCCACCCACCATACTAGACCCCTTCCCCCAAAGAAGCTGGCCTGGGATTGGAAGGTAAACATGAAAGGTGCCAGTAAAATCCTAGCTTTCCATTCTCTTGATTTCCCCAGCCCTTCGAGATAATCGAATTCAGCTGGTTACCTCTACGCCCCACGAGCTCAGCATCAGCATCAGCAATGTGGCCCTGGCAGACGAGGGCGAGTACACCTGCTCAATCTTCACTATGCCTGTGCGAACTGCCAAGTCCCTCGTCACTGTGCTAGGTGAGACTCCCAAACCCCAGTGTCTCTACAGCATGCTTCCTTGCAAACAAACCTCCCTAGATGGGTCCCTGAAGCAGCTGGGAGCCAGGCAAGTCTCCAAGCACTTTAGGAAAGTTCAGCCTGTGTTCCCCTGGCAATGGGATAAAATGTAAAAAGAAATGGGTTTTAATCCTTTGTGCTCTACTTGCTGTTTGATCTAGGACAAGGTTCTTACTCTCTTTGAGTCTGAATTTTCTCTTATAACAGAGAGATGATCATACCCCTTCTACTTACCTCCCAAGATGGTGTGAGGAAAACACAAGACATGCATGTGTTATAATTTCCAAAATAAGTACCCCAGTTGCTTACATGCTCTCATCTTCATCCTATATTTCATCCTATATTTCAACTTCCTTCTTTGCGTCTCTGAGACTCACACTATTTCTGTGGCCACCCAATTGTGCTGTAAGTGGAGGGTCATATATCATGCCTGTGCTATGGCATTGCTCCTCACTGCCATGCTGTCTCCCGCAGGCCTTCCTTTCTGGTCCTCAGGGAGGAGATCAAAAAGAAAGATGATTTATCTAGTCTTCTACCCATCAGAAATTATAGTAGAACCCAGGTACGCAGAGAAGCCATCTCCACAGGGAGAGCAGAAGTGTGACCCCATGGGGCCTCTCCTTCCTATCCTGGCCATCCCCTATCCATGGCAGGAATTCCACAGAAGCCCATCATCACTGGTTGTAAATCTTCATTACGGGAAAAAGACACAGCCACCCTAAACTGTCAGTCTTCTGGGAGCAAGCCTGCAGCCCGGCTCACCTGGAGAAAGGGTGACCAAGAACTCCACGGTGAGTACCTCCTGCCTTGGGGTTACAGGAGAAAGTGGTGCTGGAAAGAGAGAGAAGTGCCTGTCTGTGAACGTACACAGGAGGCATGGTATGGAAGAGAAAAGGGGAATGACATATATTTTGTGTGCACTCAAGTGCCTATGTGTGTGTTGGGGCCTACATTCTCCCTGCCACAACTTTCTAAGTTTATCTAGGTTGAGACTCACCATCTGTACGTCTACAATGAGGCCCACATGATATCTGTATGTTAGGTTTACTCTGTGTCTCTCTCTGTGTGTTTGTGTGTGTGCCACTGTTTCTGCACTCTAGGAGAACCAACCCGCATACAGGAAGATCCCAATGGTAAAACCTTCACTGTCAGCAGCTCGGTGACATTCCAGGTTACCCGGGAGGATGATGGGGCGAGCATCGTGTGCTCTGTGAACCATGAATCTCTAAAGGGAGCTGACAGATCCACCTCTCAACGCATTGAAGTTTTATGTATGTCATGGGCTTGGGGATGAAGAAGGATGAGGTATGAGATGAGGACCAGGGAGAAAGAGAATGCAGGTGACTGTGCATGAAACAACACGCACAGTTAAGTGAATAGGTAAAAAATGAAACAAAGACTGCCAGGACTAGGCCAGGGTTGGCAAACTCTTTACAGAGGGCCCAGTAATGAATATTTTAGGCTTTGAGACCCATACAGCCTCTGTGTCAACTACTTAATTCTCCGTTGTTGTAGGGACGCAGTCATAGACAATATGTAAACAAACGAGCTGGGCTGTGTTCCAGTAAAACTTTATTTACAAAAGAATGCAGGTGGCAGGATTTGGTCCAAGGGGATACCAACCCGTGGTCTAGGCCAGTATAATGTAGCCAGGCTGCAAACTGTTGTCGTAACTGTGGTAACTCAGGATTCCCAGGAAGTAGTTTCTAGTCTGCACTCCACCACTTACTAGCTGTGTGATATTCAGAAGATTACTTTACCCCACTGAGCTTGATTCTATATTTGCTAAGTGAAAGAGATGAGCGTGGGGATCACTACAGTTTTATCTTGGTTTAACAATTTATGATTTCAAGAAAATATGGGTGGTAGGAAAGCACAGTTTCCCTGGCATCATTATTCCCAGATCTTTTCCTTACTGACTGCTCTTCTATTTGCCCCAGCTCCATGTATTTTCCTGGGATTCTGACCTGAAATGGCCACTGTCACTGTCATTACTCCTGGCCCTTCCCAGGACACTCACACCCTCTGTGGAATTTGCCTTTAGTATGGTTAGGACACTTCTGAGGAAGTTTGGAAACGGGAATTTCTCATCTGAGGAAATTCAGAAATTTGTAAAGAACAGCCTCTCTGGGTGGAGGAACCAAAGGGAAAAGAATCAGCTAAAGTCCAATGGGAGAAGTTAGAGTTAGGAAATGGTGTATTTCTTGTCCTAACTTACCTAAAAGTTGGGCAGTTTTCAAAATAACCAAAGCCCTTCATCCTCTTCTTGTGGAGTCGACCTAGGCCCAATTATTTTCCTAACTTCAGTGTTATTTAATCATATCTTAGACCCATTACTCAAACTTTAACCTGAGGTAGGTTTAGGGTGCATCACTATTCATTTGGCAGACTCAATCCACAGGCCGACAATCCGGACTCTAGCCGCAGTGCTGCCGCTTACTAGCTGTGCTCCTTTGGCCAAAGCATTTCATCTTTCTGTGGCTCCTGCTTACTTTGCTGAGTTATTGTGAGGATAAATAAAACAATGCATGTGAAAGAACTTTGTAAATGTCAAAGTTCTATATTCCTATAAGGTGCTTCTCTGATTATTAGTTCCTAGTGTGAGGCCCTGACCTGGAGCTTTTCCCCCCGCCCCTTGGTCCCTGGCCAGAGCTAAAGCCTTGGTCCCCTGCCTGAGCCCCAAAGACTCCTCTGTTAGATACCAGACCATCTGGCAGTTACTCGCCAGGGA
Task1_train_1911
This variant lies on Chromosome 1 and affects the gene ACKR1 (atypical chemokine receptor 1 (Duffy blood group)). Based on this context, is the mutation pathogenic or benign? If pathogenic, what disease does it cause?
Pathogenic; ACKR1-related disorder
TGAAGCAGCCGATGCTGTTTTGGACAAATGAAACAGCGTCCCCTAACCAGCCCTTTCTATCTCATTGTTCTGACTTGGACACGCCATGGCTCACCGCTCCCAAAGTCCCCACTATGTCTCCCTAGCTGAGGAAATAAAAGCAGAGAGGGGTGATGAAACAGTGACGATCCTGGGGAAACAGCTGAGGAGGGGAGGGAGGGGGAAGAAGCCACTAAAAAAGTGAAATGTGCTTGGGAGAATCGGCCTGCCTGCAGGGTAGATGCCCTTTCTCTCTGCTGGCCAGCTCTGCCCCTCAGTGAGAAACTTTACATATTGCTAAGATGCCTGGCCAATGAAACAGTTCCAGAGACTTTATGTCCCCCAGTAGAAATATGAATAGAAATCACCCTGTGGGCAATGGTCCCATTTTAAAATATGCTGTCCCATTGTCCCCTAGAGCCTACTTTAACTTGTCAGACCATGTATTCCACTTCATATGCAAGAGGCATGCACTGAGCCCATAGGTGGCTAGGCAAACACCCAATAGCTCCCTGAAATGGCTTCATTATGCAGCCTCGACAGCCACCCCAACCCTCCCACTCTCACACTGAAACACCCAGACCTAGAGATAGCTAGACACACCCAGACACCCGCCAAGCCCCTCACATACAGATATGTGCACAATGATACACAGCAAACGTACACAGAGTTCAGTACACACAAAGAGCTCACGCCCACGTGCACACACCCCTCAGTTGGGACAGAGTTGACCACCACCACCTTTCTCCCAAACACATGGCTTTTGAACTGCCTTTCCTTGGATCCAGTTCAAGGGGATGGAGGAGCAGTGAGAGTCAGCCGCCCTTCCACTCCAATTTCCCAGCACCTCCCTTATCTCTGCCTCACAAGTCACCCAGCCCCCCTCTCTTCCTTCCTTGTGCTTGAAGAATCTCTCCTTGCTGGAAAGCCCCCTGTTTTCTCAATCTCCCTTTCCACTTCGGTAAAATCTCTACTTGCTGGAAAGCCCCCTGTTTTCTCAATCTCCCTTTCCACTTCGGTAAAATGCCCACTTTCTGGTCCCCACCTTTTTCCTGAGTGTAGTCCCAACCAGCCAAATCCAACCTCAAAACAGGAAGACCCAAGGCCAGTGACCCCCATAGGCCTGAGGCTTGTGCAGGCAGTGGGCGTGGGGTAAGGCTTCCTGATGCCCCCTGTCCCTGCCCAGAACCTGATGGCCCTCATTAGTCCTTGGCTCTTATCTTGGAAGCACAGGCGCTGACAGCCGTCCCAGCCCTTCTGTCTGCGGGCCTGAACCAAACGGTGCCATGGGGAACTGTCTGCACAGGGTGAGTATGGGGCCAGGCCCCAGAGTCCCTTATCCCTATGCCCCTCATTTCCCCTGCTGTTTGCCCCTCAGTCTTTATATCTCTTCCTTTTCCTCCTCATCTTTTCTCCCTTCCTGCTTTTTTCCTCTTCCTTCAAAGTCTTTTTCCTTCTCTCCTTCCTATGCTAGCCTCCTAGCTCCCTCTTGTGTCCCTCCCTTTGCCTTTGAGTCAGTTCCATCCTGGTCTCTTGGTGCCTTTTCCTTCTGACCTTGCACTGCTCCTCCAGCCCCAGCTGCCCTGGCTTCCCCAGGACTGTTCCTGCTCCGGCTCTTCAGGCTCCCTGCTTTGTCCTTTTCCACTGTCCGCACTGCATCTGACTCCTGCAGAGACCTTGTTCTCCCACCCGACCTTCCTCTCTGTCCTCCCCTCCCACCTGCCCCTCAATTCCCAGGAGACTCTTCCGGTGTAACTCTGATGGCCTCCTCTGGGTATGTCCTCCAGGCGGAGCTCTCCCCCTCAACTGAGAACTCAAGTCAGCTGGACTTCGAAGATGTATGGAATTCTTCCTATGGTGTGAATGATTCCTTCCCAGATGGAGACTATGGTGCCAACCTGGAAGCAGCTGCCCCCTGCCACTCCTGTAACCTGCTGGATGACTCTGCACTGCCCTTCTTCATCCTCACCAGTGTCCTGGGTATCCTAGCTAGCAGCACTGTCCTCTTCATGCTTTTCAGACCTCTCTTCCGCTGGCAGCTCTGCCCTGGCTGGCCTGTCCTGGCACAGCTGGCTGTGGGCAGTGCCCTCTTCAGCATTGTGGTGCCCGTCTTGGCCCCAGGGCTAGGTAGCACTCGCAGCTCTGCCCTGTGTAGCCTGGGCTACTGTGTCTGGTATGGCTCAGCCTTTGCCCAGGCTTTGCTGCTAGGGTGCCATGCCTCCCTGGGCCACAGACTGGGTGCAGGCCAGGTCCCAGGCCTCACCCTGGGGCTCACTGTGGGAATTTGGGGAGTGGCTGCCCTACTGACACTGCCTGTCACCCTGGCCAGTGGTGCTTCTGGTGGACTCTGCACCCTGATATACAGCACGGAGCTGAAGGCTTTGCAGGCCACACACACTGTAGCCTGTCTTGCCATCTTTGTCTTGTTGCCATTGGGTTTGTTTGGAGCCAAGGGGCTGAAGAAGGCATTGGGTATGGGGCCAGGCCCCTGGATGAATATCCTGTGGGCCTGGTTTATTTTCTGGTGGCCTCATGGGGTGGTTCTAGGACTGGATTTCCTGGTGAGGTCCAAGCTGTTGCTGTTGTCAACATGTCTGGCCCAGCAGGCTCTGGACCTGCTGCTGAACCTGGCAGAAGCCCTGGCAATTTTGCACTGTGTGGCTACGCCCCTGCTCCTCGCCCTATTCTGCCACCAGGCCACCCGCACCCTCTTGCCCTCTCTGCCCCTCCCTGAAGGATGGTCTTCTCATCTGGACACCCTTGGAAGCAAATCCTAGTTCTCTTCCCACCTGTCAACCTGAATTAAAGTCTACACTGCCTTTGTGAAGCGGGTGGTTTCTTATTTTGTCTGGGGAGAAGAAGGAGAATGGAGAGAGAGACATTTTTATGTCAGACTTTCTTGCCAGTGTCTGCTTCTATAGCTGGCTTGGGAAGAAGGTGAATGATGAATAAATACCCTCAGGGTACACAGATGTTCTCTTGAGGTGTGGGGTCACGGCCATCTCAAGGGAGAAGAGAAGAGGAACCAGAGCATGAGGGGAGTCATTAAACCAAAAAAAACAGAAGGGATGGCTTAGCTGGAAAAAAAGCTGTTCTGGGAAGCAAATGGAATAGGAACTCAAACTGAGAGATAAACAGTGAAGAGTGATGACAAAGCCCAGAGCAATACCACCTCCCCCTGTCCAACCTGCCCAGCCTCTGTCTTCTGTCTCCTCTCTGGCTTTGTTTAGTGATTAGGACAGTGGTGGGGAAGGTGAAAGAAGCATCCCAGGGGATGTTACTCAGTTCAGGGAACATATCAAGGTAATTTAAAAAGCCACTTCCTGGGAGTCATCTCTCCCAGGTTCCTCAGCATGACCTGAATGTGCGTGCGTGTGTGTGTGTGTGTGTGTGTACACATCTGTTTCTCGATCTGTTAGAATCTACCTTTATGTTAGATGTATGCATGTAAAAACATATGTCCACCCATGAGCTTGCATCTCTGTCAGCACCTGAACTGCGCACACCTGTGCGTGTGCACTGACTTTTCTCAGGACCCAAACCCCCACTCAATTCTGCACTCATCCCTGTTCACAGGATATAGAATCGGGATTTATGACTCACTCCTTACCCAAATGAGTTTTCTTTACCCTGGTTTTTAAGCCTAGTCTTTTCTGTGTAGGATGTGTGGAGGGAAGAAAAGATCAAGAAGTTGTGAAGGGTGGAGAAACTTGAAGGGGGAGGCCCTGATTTGATTCATCTTCTGCTTGGAATTCCCCGAATTTCCCTTTCAGAATCTCAGCTTTTGAAATAAACCTTTATTTCCCACATACATCTTTCCTTCCACCTTCCACACAATACCCCAATCCCCTGGGCACCTTTTTCCCAACCCCTGATTCTCTGGCTGCTTAATCATGACCTTTGAGATTTTTCTCAGTCTCTACCTACCCAAGTTTAGATGGCTGGAAGGACAGAAACCCCTCCTCATCAGGGGCACAGCTTTTACCACCAAGAGCAAATTCACCCTCTACCCAAGAGGCTACAAAACAGTTAGTTCCTACCTCTAACCCAACTAAAGGCTGGGGAAACTTGAGCAGAT
TGAAGCAGCCGATGCTGTTTTGGACAAATGAAACAGCGTCCCCTAACCAGCCCTTTCTATCTCATTGTTCTGACTTGGACACGCCATGGCTCACCGCTCCCAAAGTCCCCACTATGTCTCCCTAGCTGAGGAAATAAAAGCAGAGAGGGGTGATGAAACAGTGACGATCCTGGGGAAACAGCTGAGGAGGGGAGGGAGGGGGAAGAAGCCACTAAAAAAGTGAAATGTGCTTGGGAGAATCGGCCTGCCTGCAGGGTAGATGCCCTTTCTCTCTGCTGGCCAGCTCTGCCCCTCAGTGAGAAACTTTACATATTGCTAAGATGCCTGGCCAATGAAACAGTTCCAGAGACTTTATGTCCCCCAGTAGAAATATGAATAGAAATCACCCTGTGGGCAATGGTCCCATTTTAAAATATGCTGTCCCATTGTCCCCTAGAGCCTACTTTAACTTGTCAGACCATGTATTCCACTTCATATGCAAGAGGCATGCACTGAGCCCATAGGTGGCTAGGCAAACACCCAATAGCTCCCTGAAATGGCTTCATTATGCAGCCTCGACAGCCACCCCAACCCTCCCACTCTCACACTGAAACACCCAGACCTAGAGATAGCTAGACACACCCAGACACCCGCCAAGCCCCTCACATACAGATATGTGCACAATGATACACAGCAAACGTACACAGAGTTCAGTACACACAAAGAGCTCACGCCCACGTGCACACACCCCTCAGTTGGGACAGAGTTGACCACCACCACCTTTCTCCCAAACACATGGCTTTTGAACTGCCTTTCCTTGGATCCAGTTCAAGGGGATGGAGGAGCAGTGAGAGTCAGCCGCCCTTCCACTCCAATTTCCCAGCACCTCCCTTATCTCTGCCTCACAAGTCACCCAGCCCCCCTCTCTTCCTTCCTTGTGCTTGAAGAATCTCTCCTTGCTGGAAAGCCCCCTGTTTTCTCAATCTCCCTTTCCACTTCGGTAAAATCTCTACTTGCTGGAAAGCCCCCTGTTTTCTCAATCTCCCTTTCCACTTCGGTAAAATGCCCACTTTCTGGTCCCCACCTTTTTCCTGAGTGTAGTCCCAACCAGCCAAATCCAACCTCAAAACAGGAAGACCCAAGGCCAGTGACCCCCATAGGCCTGAGGCTTGTGCAGGCAGTGGGCGTGGGGTAAGGCTTCCTGATGCCCCCTGTCCCTGCCCAGAACCTGATGGCCCTCATTAGTCCTTGGCTCTTATCTTGGAAGCACAGGCGCTGACAGCCGTCCCAGCCCTTCTGTCTGCGGGCCTGAACCAAACGGTGCCATGGGGAACTGTCTGCACAGGGTGAGTATGGGGCCAGGCCCCAGAGTCCCTTATCCCTATGCCCCTCATTTCCCCTGCTGTTTGCCCCTCAGTCTTTATATCTCTTCCTTTTCCTCCTCATCTTTTCTCCCTTCCTGCTTTTTTCCTCTTCCTTCAAAGTCTTTTTCCTTCTCTCCTTCCTATGCTAGCCTCCTAGCTCCCTCTTGTGTCCCTCCCTTTGCCTTTGAGTCAGTTCCATCCTGGTCTCTTGGTGCCTTTTCCTTCTGACCTTGCACTGCTCCTCCAGCCCCAGCTGCCCTGGCTTCCCCAGGACTGTTCCTGCTCCGGCTCTTCAGGCTCCCTGCTTTGTCCTTTTCCACTGTCCGCACTGCATCTGACTCCTGCAGAGACCTTGTTCTCCCACCCGACCTTCCTCTCTGTCCTCCCCTCCCACCTGCCCCTCAATTCCCAGGAGACTCTTCCGGTGTAACTCTGATGGCCTCCTCTGGGTATGTCCTCCAGGCGGAGCTCTCCCCCTCAACTGAGAACTCAAGTCAGCTGGACTTCGAAGATGTATGGAATTCTTCCTATGGTGTGAATGATTCCTTCCCAGATGGAGACTATGGTGCCAACCTGGAAGCAGCTGCCCCCTGCCACTCCTGTAACCTGCTGGATGACTCTGCACTGCCCTTCTTCATCCTCACCAGTGTCCTGGGTATCCTAGCTAGCAGCACTGTCCTCTTCATGCTTTTCAGACCTCTCTTCTGCTGGCAGCTCTGCCCTGGCTGGCCTGTCCTGGCACAGCTGGCTGTGGGCAGTGCCCTCTTCAGCATTGTGGTGCCCGTCTTGGCCCCAGGGCTAGGTAGCACTCGCAGCTCTGCCCTGTGTAGCCTGGGCTACTGTGTCTGGTATGGCTCAGCCTTTGCCCAGGCTTTGCTGCTAGGGTGCCATGCCTCCCTGGGCCACAGACTGGGTGCAGGCCAGGTCCCAGGCCTCACCCTGGGGCTCACTGTGGGAATTTGGGGAGTGGCTGCCCTACTGACACTGCCTGTCACCCTGGCCAGTGGTGCTTCTGGTGGACTCTGCACCCTGATATACAGCACGGAGCTGAAGGCTTTGCAGGCCACACACACTGTAGCCTGTCTTGCCATCTTTGTCTTGTTGCCATTGGGTTTGTTTGGAGCCAAGGGGCTGAAGAAGGCATTGGGTATGGGGCCAGGCCCCTGGATGAATATCCTGTGGGCCTGGTTTATTTTCTGGTGGCCTCATGGGGTGGTTCTAGGACTGGATTTCCTGGTGAGGTCCAAGCTGTTGCTGTTGTCAACATGTCTGGCCCAGCAGGCTCTGGACCTGCTGCTGAACCTGGCAGAAGCCCTGGCAATTTTGCACTGTGTGGCTACGCCCCTGCTCCTCGCCCTATTCTGCCACCAGGCCACCCGCACCCTCTTGCCCTCTCTGCCCCTCCCTGAAGGATGGTCTTCTCATCTGGACACCCTTGGAAGCAAATCCTAGTTCTCTTCCCACCTGTCAACCTGAATTAAAGTCTACACTGCCTTTGTGAAGCGGGTGGTTTCTTATTTTGTCTGGGGAGAAGAAGGAGAATGGAGAGAGAGACATTTTTATGTCAGACTTTCTTGCCAGTGTCTGCTTCTATAGCTGGCTTGGGAAGAAGGTGAATGATGAATAAATACCCTCAGGGTACACAGATGTTCTCTTGAGGTGTGGGGTCACGGCCATCTCAAGGGAGAAGAGAAGAGGAACCAGAGCATGAGGGGAGTCATTAAACCAAAAAAAACAGAAGGGATGGCTTAGCTGGAAAAAAAGCTGTTCTGGGAAGCAAATGGAATAGGAACTCAAACTGAGAGATAAACAGTGAAGAGTGATGACAAAGCCCAGAGCAATACCACCTCCCCCTGTCCAACCTGCCCAGCCTCTGTCTTCTGTCTCCTCTCTGGCTTTGTTTAGTGATTAGGACAGTGGTGGGGAAGGTGAAAGAAGCATCCCAGGGGATGTTACTCAGTTCAGGGAACATATCAAGGTAATTTAAAAAGCCACTTCCTGGGAGTCATCTCTCCCAGGTTCCTCAGCATGACCTGAATGTGCGTGCGTGTGTGTGTGTGTGTGTGTGTACACATCTGTTTCTCGATCTGTTAGAATCTACCTTTATGTTAGATGTATGCATGTAAAAACATATGTCCACCCATGAGCTTGCATCTCTGTCAGCACCTGAACTGCGCACACCTGTGCGTGTGCACTGACTTTTCTCAGGACCCAAACCCCCACTCAATTCTGCACTCATCCCTGTTCACAGGATATAGAATCGGGATTTATGACTCACTCCTTACCCAAATGAGTTTTCTTTACCCTGGTTTTTAAGCCTAGTCTTTTCTGTGTAGGATGTGTGGAGGGAAGAAAAGATCAAGAAGTTGTGAAGGGTGGAGAAACTTGAAGGGGGAGGCCCTGATTTGATTCATCTTCTGCTTGGAATTCCCCGAATTTCCCTTTCAGAATCTCAGCTTTTGAAATAAACCTTTATTTCCCACATACATCTTTCCTTCCACCTTCCACACAATACCCCAATCCCCTGGGCACCTTTTTCCCAACCCCTGATTCTCTGGCTGCTTAATCATGACCTTTGAGATTTTTCTCAGTCTCTACCTACCCAAGTTTAGATGGCTGGAAGGACAGAAACCCCTCCTCATCAGGGGCACAGCTTTTACCACCAAGAGCAAATTCACCCTCTACCCAAGAGGCTACAAAACAGTTAGTTCCTACCTCTAACCCAACTAAAGGCTGGGGAAACTTGAGCAGAT
Task1_train_1912
Given this context: Chromosome 1, gene KCNJ10 (potassium inwardly rectifying channel subfamily J member 10) — does this variant present pathogenic behavior, and if so, what disease does it relate to?
Pathogenic; SeSAME-like syndrome
TGGGGCTTTGGATAAAGCTCTGGTGCCTATATGCCCTTCCCTGACCCTTACCACAGACCCCACCAGGGAACAAGGAATAGGCTGAGTTTGATCTCTTAAAGTCTACTTTTTAACTTGTCTGAAAATGGCCTCATGGCAGAGGAGAGTAGAGATGACACTGATTTCTTCATTTTATACCAAGTCTCAGGAATGGCTGAGGGAAGCCATGGTTATTTGATCAGAAGGTATAATTTCATTTCCTTCCAGCATTGCCTAATGAAATAGCTGGCACTTTTCAGAAGGGCACTGGGAGGTGTAACTGAGAATAGTGGCTGCCAGCCACAGAGTTCTGCTCCTGCCCAAACCTTAACAAAGCATCACCAATTCTCAGAGGCTCTGTACAGCAGTTTGGAAATCTGAGAATTTACCCATCCCTCATGGTGGGATTGTGTTAACTTTCTGGGGAATCTGTGCCCTGTGAATCTAGTTTTACTTGAGCATCCGTGTTAAGAGAGGAAGGCCCTTGCATTTTCCCTCCCTTCTCCCAAAGAGTTGGGGTTAAGGAAGAAGGATCTAGGCTGAGCAGGAAAGGAAGAAGAGAAGCCAGGTACAGTGTAATCTGGAATATTATTTTCAGACCTTTCCATGGGGCCTGGGTACTGGACTCTTTTCAAAGGAACATATTGGCTTGGGTCCTTCCATTCACAGGACACAGGGAAACAGATCTTCTCTGGGCTGCCTGGAAGATAGGTTTAAAGGTTTAGATAACAACTTGTGTTAGTCACTCCAAATTGAAGAGTTCAGAATCCAGGATAGATATGGGTGGTTATATGTTTATGTTTCTTGGGCCAACTCCAATTCTCTGAGAACAGAGGCTATGAGGGAACTGGGTATCCTGAGAGTGTTCACTTGAGAAACTACAGAGGGAAAACAGTGGCGACCATGGTTCTAGCTTATGGTCAGAAGTCACCAGCAGAAATCAAGCTTCACAGTGGCAAACCCTGGCTTCTTTCAACAGAGATTGGTAGAAACCCTAGGATATGTTGATATCAGATTCCTGTATTTCTGAAAGCACAGACCACAAAGTGACCATCAGAGAGAGTCTTGCCTTTGGGAACTTGCTAGATGGAAAGGTAACAGAGGGAGCTCCAGCCTCAAGTCACCAAACTTCATGGTGGTGGTGGGAGGTAGGGGGCAGTCTATCCTTCCAACCACATGGTCCTCCTAATGTGAGTATCCAAGCATGGCTGAGGCCTTCTAAGCCACTTCAGCCTAATCCCACTCTTTCCCCCATCCTGGCTTAAGGGAGGTATGTGTATTGGGGCAGAAGCTGGGGAAGTGGAAAGGGGACAGTGGGAGGCGAACCTGGACTCCAGTTGGCCTAAGCTACCAACAGGCCACTGGGTTAAAGAAGAGGGAGTGGAGGATGGGTGCTTCGGGGGATCTCCAGTAAACCCGGGTAGTATTCCTTACCAGGGCATTGGAAGAGAGGAAAAGAGACCAGAGGAATGGGGGAGTGGGAACAGGTCATCAGACATTGCTGATGCGCACACTAAGGGCACTGCCCTCCTTCTCAGCTTGCTCCCTTAATGACTCCTCCAACTTGAGCTTTTCAGGGTCTCCGTAGCGTACAGTGCTGTCACGGAGGCCACTAGGAGAGGCCACTTTCACAACTTGGTCAAAAAGGCTAAAGTCAGCTATGTATTTACCACTGGCTGACAGTGAGATGGCAGGTGTGAACTCGTAGCCCCAAAGGATCTCCTCTGGCAGGTAGGAAGTGCGCACCTGACAGGTGGCACTGGTGGACTCCACTGTCCCACTTAGGATCAGCACCAGCTCAAAGTCACCCTCACCACTGCGAAGAGGGAGATCTTTCAAGGGACTGGTCTCATCTACCACATGATAGAAGGTAAGGGGTAGAATAAGGAAGGGGCTGTCAGAGGCTGTGTCTACTTGGAAAGTCACATTGACCTGGTTGAGCCGGATGTTCTCCCCTTCCTTGGTTTGGTGGGTCTGAAGCAGTTTTCCTGTCACCTGGCAGCCAATGAGGAGGCTTTTGCGCATATTGGCAACTCGGATCATGAGGCAGGGCTTGCCATTGTGGGAGGCCACAACTGCATGCTGGCTGAAACGAATGGTCTCAGCCCGCTTCTTGGGCCGGGCAATCTTCGCCAGGAAGGTACCTGTGATGAAGATTTCCAGGATGGTGGTGAGCACCAGCTGGGCAATAAGAAGCACAATGGCCAGTGGACATTCCTCACTGATGTAGCGGAAGCCATAGCCAATGGTGGTTTGGGATTCAAGGGAGAAGAGGAAGGCTCCAGTGAGTGTGTGCACCTGTACCACACAGGGGGTGTGGTTGGCCGGGGGGTCCAGCTCCAGCAGGTCCCCATGTGCCACAGCTACCAGATACCACACCACGCCAAAGAGGAACCATGTGCCTGCAAAGGTCGCAGAGAAGAGCAGAAGCTTGTAGCGCCACTGCATGTCAATGAAGGTTGTCCACAGGTCCTTGAGGTAGAGGAAGCGCTTGTCGGCAATGTGCTCCATTCTCACGTTGCTGCGACCATCTTTTGTCAGGACTCTCCGCCGTCGTATCCCTGGGCCCATTAGGGGCCGGCTTTCTGTCTGAGTGGTCTGACTGTAATACACCTTGGCAACTGACGTCATCTGGAGGGAGCAAGACAGCATAATGGAGGTTATCGTAGAAATCCAGCTGACTCCTAACCCTCACCCCATGGGAGGGAGGAATTAACATTCATTTGAATGTCGCTTATGTGTTCTTGTCTTACCAAATATTTATTGAGCACTTGCTATGTGCCAGGCACTGTGCAGGGGCCGAGGCGGGTGGATCGCCTGAGGTCAGGAGTTCAAGACCAGCCTGGCCAACAAGGCAAAACCCTGTCTCTACTAAAAATACAAAAATTAGCTGGGCATGGTGGCATGCGCCTGTAGTCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATCGCTTGAACCCGGGAGACAGAGGTTGCAGTGAGCCGACATCGCGCCACTGCACTCCAGCCTGGGTGACACAGCGAGACTCCGTCTCAAAAAAAAAAAAAAGTAAATAAAATAAAATAAAATAAAATGACATCATTCTGCTCTCCAAGAACTCACAGCCTAGTGAGAAAGATGCCTATTTAGTAAGCAAATAATTGCAACACAGTCTGATATTTGTAATTCTTAGCGGAAGAGAGGCAGAAAAGAAAGAGTAGTAGCTTCACATTCCTTGAAGGTGAGGGTGAGACTAATGAGAGCCTTCACCACAAAACCAGTCCTCCGAAGAGCTCTAATTTTGAAATAGGATCCATCCCCACCCTTATGAATGGCTATGAAGCAAGACAAGCTATCCTGTTGAAATCCTTCCAGGCCAATCCCCCTTAAAACACACACACACACACACACACACACACACACACACACACACAACCTTAATTTCTTCATTCTCTGCTCTACCCCCAAGCCAATACCCACTGGTGATACTAAGATACTCATCTGGTTCAGAGAATAGCAGAAACTACCCATTCTTTTACCCTTCAAGATGCTCCCTAAGCACCCAGACCATTTCATTTTTTATCATCATCATCATCATCTGTTTGCATCATCTGGGGAAATTTGGTCTGAGTTAGAGTCTAGGGCAGTGTTAGGAAGAGTACAGATGGGACTTGAACAAAAGGAAATAAGCAGTGGTGGAGGAGAAACAACATGTTAAAACTTCCTGGAAGCACTGGGACATTTTCTGAAGGACTGGCAGAAATGCCAGATTGTGGGTGGCAAAATTGTTTTGACAGAATGAAGTAGAAGAGCTAGGGGTGTATATTAACTAGCAGCTATGTCTGCACAGGCTCAAATTCAGTATTGCTATTTGTTCTGATAGCAGAAAGTGGGGCAAGCCACTGAAATAGGAGACAATTCACTTAATACAAGGTGCCTGGCACCCTTGCCCAAGCAGTAACTTGTACTTTTCCAGCACAGAAAGAATTTTAATCACTTGAGCCCTTGGACCCTGGATCTGATAGCCAGATCTTCTGTGGAGCAGGGTGATCTCTGGGGAGTTTAGCCCTTCTTGGAGAGGCTCATTACATTCTCCAT
TGGGGCTTTGGATAAAGCTCTGGTGCCTATATGCCCTTCCCTGACCCTTACCACAGACCCCACCAGGGAACAAGGAATAGGCTGAGTTTGATCTCTTAAAGTCTACTTTTTAACTTGTCTGAAAATGGCCTCATGGCAGAGGAGAGTAGAGATGACACTGATTTCTTCATTTTATACCAAGTCTCAGGAATGGCTGAGGGAAGCCATGGTTATTTGATCAGAAGGTATAATTTCATTTCCTTCCAGCATTGCCTAATGAAATAGCTGGCACTTTTCAGAAGGGCACTGGGAGGTGTAACTGAGAATAGTGGCTGCCAGCCACAGAGTTCTGCTCCTGCCCAAACCTTAACAAAGCATCACCAATTCTCAGAGGCTCTGTACAGCAGTTTGGAAATCTGAGAATTTACCCATCCCTCATGGTGGGATTGTGTTAACTTTCTGGGGAATCTGTGCCCTGTGAATCTAGTTTTACTTGAGCATCCGTGTTAAGAGAGGAAGGCCCTTGCATTTTCCCTCCCTTCTCCCAAAGAGTTGGGGTTAAGGAAGAAGGATCTAGGCTGAGCAGGAAAGGAAGAAGAGAAGCCAGGTACAGTGTAATCTGGAATATTATTTTCAGACCTTTCCATGGGGCCTGGGTACTGGACTCTTTTCAAAGGAACATATTGGCTTGGGTCCTTCCATTCACAGGACACAGGGAAACAGATCTTCTCTGGGCTGCCTGGAAGATAGGTTTAAAGGTTTAGATAACAACTTGTGTTAGTCACTCCAAATTGAAGAGTTCAGAATCCAGGATAGATATGGGTGGTTATATGTTTATGTTTCTTGGGCCAACTCCAATTCTCTGAGAACAGAGGCTATGAGGGAACTGGGTATCCTGAGAGTGTTCACTTGAGAAACTACAGAGGGAAAACAGTGGCGACCATGGTTCTAGCTTATGGTCAGAAGTCACCAGCAGAAATCAAGCTTCACAGTGGCAAACCCTGGCTTCTTTCAACAGAGATTGGTAGAAACCCTAGGATATGTTGATATCAGATTCCTGTATTTCTGAAAGCACAGACCACAAAGTGACCATCAGAGAGAGTCTTGCCTTTGGGAACTTGCTAGATGGAAAGGTAACAGAGGGAGCTCCAGCCTCAAGTCACCAAACTTCATGGTGGTGGTGGGAGGTAGGGGGCAGTCTATCCTTCCAACCACATGGTCCTCCTAATGTGAGTATCCAAGCATGGCTGAGGCCTTCTAAGCCACTTCAGCCTAATCCCACTCTTTCCCCCATCCTGGCTTAAGGGAGGTATGTGTATTGGGGCAGAAGCTGGGGAAGTGGAAAGGGGACAGTGGGAGGCGAACCTGGACTCCAGTTGGCCTAAGCTACCAACAGGCCACTGGGTTAAAGAAGAGGGAGTGGAGGATGGGTGCTTCGGGGGATCTCCAGTAAACCCGGGTAGTATTCCTTACCAGGGCATTGGAAGAGAGGAAAAGAGACCAGAGGAATGGGGGAGTGGGAACAGGTCATCAGACATTGCTGATGCGCACACTAAGGGCACTGCCCTCCTTCTCAGCTTGCTCCCTTAATGACTCCTCCAACTTGAGCTTTTCAGGGTCTCCGTAGCGTACAGTGCTGTCACGGAGGCCACTAGGAGAGGCCACTTTCACAACTTGGTCAAAAAGGCTAAAGTCAGCTATGTATTTACCACTGGCTGACAGTGAGATGGCAGGTGTGAACTCGTAGCCCCAAAGGATCTCCTCTGGCAGGTAGGAAGTGCGCACCTGACAGGTGGCACTGGTGGACTCCACTGTCCCACTTAGGATCAGCACCAGCTCAAAGTCACCCTCACCACTGCGAAGAGGGAGATCTTTCAAGGGACTGGTCTCATCTACCACATGATAGAAGGTAAGGGGTAGAATAAGGAAGGGGCTGTCAGAGGCTGTGTCTACTTGGAAAGTCACATTGACCTGGTTGAGCCGGATGTTCTCCCCTTCCTTGGTTTGGTGGGTCTGAAGCAGTTTTCCTGTCACCTGGCAGCCAATGAGGAGGCTTTTGCGCATATTGGTAACTCGGATCATGAGGCAGGGCTTGCCATTGTGGGAGGCCACAACTGCATGCTGGCTGAAACGAATGGTCTCAGCCCGCTTCTTGGGCCGGGCAATCTTCGCCAGGAAGGTACCTGTGATGAAGATTTCCAGGATGGTGGTGAGCACCAGCTGGGCAATAAGAAGCACAATGGCCAGTGGACATTCCTCACTGATGTAGCGGAAGCCATAGCCAATGGTGGTTTGGGATTCAAGGGAGAAGAGGAAGGCTCCAGTGAGTGTGTGCACCTGTACCACACAGGGGGTGTGGTTGGCCGGGGGGTCCAGCTCCAGCAGGTCCCCATGTGCCACAGCTACCAGATACCACACCACGCCAAAGAGGAACCATGTGCCTGCAAAGGTCGCAGAGAAGAGCAGAAGCTTGTAGCGCCACTGCATGTCAATGAAGGTTGTCCACAGGTCCTTGAGGTAGAGGAAGCGCTTGTCGGCAATGTGCTCCATTCTCACGTTGCTGCGACCATCTTTTGTCAGGACTCTCCGCCGTCGTATCCCTGGGCCCATTAGGGGCCGGCTTTCTGTCTGAGTGGTCTGACTGTAATACACCTTGGCAACTGACGTCATCTGGAGGGAGCAAGACAGCATAATGGAGGTTATCGTAGAAATCCAGCTGACTCCTAACCCTCACCCCATGGGAGGGAGGAATTAACATTCATTTGAATGTCGCTTATGTGTTCTTGTCTTACCAAATATTTATTGAGCACTTGCTATGTGCCAGGCACTGTGCAGGGGCCGAGGCGGGTGGATCGCCTGAGGTCAGGAGTTCAAGACCAGCCTGGCCAACAAGGCAAAACCCTGTCTCTACTAAAAATACAAAAATTAGCTGGGCATGGTGGCATGCGCCTGTAGTCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATCGCTTGAACCCGGGAGACAGAGGTTGCAGTGAGCCGACATCGCGCCACTGCACTCCAGCCTGGGTGACACAGCGAGACTCCGTCTCAAAAAAAAAAAAAAGTAAATAAAATAAAATAAAATAAAATGACATCATTCTGCTCTCCAAGAACTCACAGCCTAGTGAGAAAGATGCCTATTTAGTAAGCAAATAATTGCAACACAGTCTGATATTTGTAATTCTTAGCGGAAGAGAGGCAGAAAAGAAAGAGTAGTAGCTTCACATTCCTTGAAGGTGAGGGTGAGACTAATGAGAGCCTTCACCACAAAACCAGTCCTCCGAAGAGCTCTAATTTTGAAATAGGATCCATCCCCACCCTTATGAATGGCTATGAAGCAAGACAAGCTATCCTGTTGAAATCCTTCCAGGCCAATCCCCCTTAAAACACACACACACACACACACACACACACACACACACACACACAACCTTAATTTCTTCATTCTCTGCTCTACCCCCAAGCCAATACCCACTGGTGATACTAAGATACTCATCTGGTTCAGAGAATAGCAGAAACTACCCATTCTTTTACCCTTCAAGATGCTCCCTAAGCACCCAGACCATTTCATTTTTTATCATCATCATCATCATCTGTTTGCATCATCTGGGGAAATTTGGTCTGAGTTAGAGTCTAGGGCAGTGTTAGGAAGAGTACAGATGGGACTTGAACAAAAGGAAATAAGCAGTGGTGGAGGAGAAACAACATGTTAAAACTTCCTGGAAGCACTGGGACATTTTCTGAAGGACTGGCAGAAATGCCAGATTGTGGGTGGCAAAATTGTTTTGACAGAATGAAGTAGAAGAGCTAGGGGTGTATATTAACTAGCAGCTATGTCTGCACAGGCTCAAATTCAGTATTGCTATTTGTTCTGATAGCAGAAAGTGGGGCAAGCCACTGAAATAGGAGACAATTCACTTAATACAAGGTGCCTGGCACCCTTGCCCAAGCAGTAACTTGTACTTTTCCAGCACAGAAAGAATTTTAATCACTTGAGCCCTTGGACCCTGGATCTGATAGCCAGATCTTCTGTGGAGCAGGGTGATCTCTGGGGAGTTTAGCCCTTCTTGGAGAGGCTCATTACATTCTCCAT
Task1_train_1913
Here is a variant affecting KCNJ10 (potassium inwardly rectifying channel subfamily J member 10) on Chromosome 1. Please identify whether it is a benign mutation or associated with a disorder.
Pathogenic; Autosomal recessive nonsyndromic hearing loss 4
TGGTGCCTATATGCCCTTCCCTGACCCTTACCACAGACCCCACCAGGGAACAAGGAATAGGCTGAGTTTGATCTCTTAAAGTCTACTTTTTAACTTGTCTGAAAATGGCCTCATGGCAGAGGAGAGTAGAGATGACACTGATTTCTTCATTTTATACCAAGTCTCAGGAATGGCTGAGGGAAGCCATGGTTATTTGATCAGAAGGTATAATTTCATTTCCTTCCAGCATTGCCTAATGAAATAGCTGGCACTTTTCAGAAGGGCACTGGGAGGTGTAACTGAGAATAGTGGCTGCCAGCCACAGAGTTCTGCTCCTGCCCAAACCTTAACAAAGCATCACCAATTCTCAGAGGCTCTGTACAGCAGTTTGGAAATCTGAGAATTTACCCATCCCTCATGGTGGGATTGTGTTAACTTTCTGGGGAATCTGTGCCCTGTGAATCTAGTTTTACTTGAGCATCCGTGTTAAGAGAGGAAGGCCCTTGCATTTTCCCTCCCTTCTCCCAAAGAGTTGGGGTTAAGGAAGAAGGATCTAGGCTGAGCAGGAAAGGAAGAAGAGAAGCCAGGTACAGTGTAATCTGGAATATTATTTTCAGACCTTTCCATGGGGCCTGGGTACTGGACTCTTTTCAAAGGAACATATTGGCTTGGGTCCTTCCATTCACAGGACACAGGGAAACAGATCTTCTCTGGGCTGCCTGGAAGATAGGTTTAAAGGTTTAGATAACAACTTGTGTTAGTCACTCCAAATTGAAGAGTTCAGAATCCAGGATAGATATGGGTGGTTATATGTTTATGTTTCTTGGGCCAACTCCAATTCTCTGAGAACAGAGGCTATGAGGGAACTGGGTATCCTGAGAGTGTTCACTTGAGAAACTACAGAGGGAAAACAGTGGCGACCATGGTTCTAGCTTATGGTCAGAAGTCACCAGCAGAAATCAAGCTTCACAGTGGCAAACCCTGGCTTCTTTCAACAGAGATTGGTAGAAACCCTAGGATATGTTGATATCAGATTCCTGTATTTCTGAAAGCACAGACCACAAAGTGACCATCAGAGAGAGTCTTGCCTTTGGGAACTTGCTAGATGGAAAGGTAACAGAGGGAGCTCCAGCCTCAAGTCACCAAACTTCATGGTGGTGGTGGGAGGTAGGGGGCAGTCTATCCTTCCAACCACATGGTCCTCCTAATGTGAGTATCCAAGCATGGCTGAGGCCTTCTAAGCCACTTCAGCCTAATCCCACTCTTTCCCCCATCCTGGCTTAAGGGAGGTATGTGTATTGGGGCAGAAGCTGGGGAAGTGGAAAGGGGACAGTGGGAGGCGAACCTGGACTCCAGTTGGCCTAAGCTACCAACAGGCCACTGGGTTAAAGAAGAGGGAGTGGAGGATGGGTGCTTCGGGGGATCTCCAGTAAACCCGGGTAGTATTCCTTACCAGGGCATTGGAAGAGAGGAAAAGAGACCAGAGGAATGGGGGAGTGGGAACAGGTCATCAGACATTGCTGATGCGCACACTAAGGGCACTGCCCTCCTTCTCAGCTTGCTCCCTTAATGACTCCTCCAACTTGAGCTTTTCAGGGTCTCCGTAGCGTACAGTGCTGTCACGGAGGCCACTAGGAGAGGCCACTTTCACAACTTGGTCAAAAAGGCTAAAGTCAGCTATGTATTTACCACTGGCTGACAGTGAGATGGCAGGTGTGAACTCGTAGCCCCAAAGGATCTCCTCTGGCAGGTAGGAAGTGCGCACCTGACAGGTGGCACTGGTGGACTCCACTGTCCCACTTAGGATCAGCACCAGCTCAAAGTCACCCTCACCACTGCGAAGAGGGAGATCTTTCAAGGGACTGGTCTCATCTACCACATGATAGAAGGTAAGGGGTAGAATAAGGAAGGGGCTGTCAGAGGCTGTGTCTACTTGGAAAGTCACATTGACCTGGTTGAGCCGGATGTTCTCCCCTTCCTTGGTTTGGTGGGTCTGAAGCAGTTTTCCTGTCACCTGGCAGCCAATGAGGAGGCTTTTGCGCATATTGGCAACTCGGATCATGAGGCAGGGCTTGCCATTGTGGGAGGCCACAACTGCATGCTGGCTGAAACGAATGGTCTCAGCCCGCTTCTTGGGCCGGGCAATCTTCGCCAGGAAGGTACCTGTGATGAAGATTTCCAGGATGGTGGTGAGCACCAGCTGGGCAATAAGAAGCACAATGGCCAGTGGACATTCCTCACTGATGTAGCGGAAGCCATAGCCAATGGTGGTTTGGGATTCAAGGGAGAAGAGGAAGGCTCCAGTGAGTGTGTGCACCTGTACCACACAGGGGGTGTGGTTGGCCGGGGGGTCCAGCTCCAGCAGGTCCCCATGTGCCACAGCTACCAGATACCACACCACGCCAAAGAGGAACCATGTGCCTGCAAAGGTCGCAGAGAAGAGCAGAAGCTTGTAGCGCCACTGCATGTCAATGAAGGTTGTCCACAGGTCCTTGAGGTAGAGGAAGCGCTTGTCGGCAATGTGCTCCATTCTCACGTTGCTGCGACCATCTTTTGTCAGGACTCTCCGCCGTCGTATCCCTGGGCCCATTAGGGGCCGGCTTTCTGTCTGAGTGGTCTGACTGTAATACACCTTGGCAACTGACGTCATCTGGAGGGAGCAAGACAGCATAATGGAGGTTATCGTAGAAATCCAGCTGACTCCTAACCCTCACCCCATGGGAGGGAGGAATTAACATTCATTTGAATGTCGCTTATGTGTTCTTGTCTTACCAAATATTTATTGAGCACTTGCTATGTGCCAGGCACTGTGCAGGGGCCGAGGCGGGTGGATCGCCTGAGGTCAGGAGTTCAAGACCAGCCTGGCCAACAAGGCAAAACCCTGTCTCTACTAAAAATACAAAAATTAGCTGGGCATGGTGGCATGCGCCTGTAGTCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATCGCTTGAACCCGGGAGACAGAGGTTGCAGTGAGCCGACATCGCGCCACTGCACTCCAGCCTGGGTGACACAGCGAGACTCCGTCTCAAAAAAAAAAAAAAGTAAATAAAATAAAATAAAATAAAATGACATCATTCTGCTCTCCAAGAACTCACAGCCTAGTGAGAAAGATGCCTATTTAGTAAGCAAATAATTGCAACACAGTCTGATATTTGTAATTCTTAGCGGAAGAGAGGCAGAAAAGAAAGAGTAGTAGCTTCACATTCCTTGAAGGTGAGGGTGAGACTAATGAGAGCCTTCACCACAAAACCAGTCCTCCGAAGAGCTCTAATTTTGAAATAGGATCCATCCCCACCCTTATGAATGGCTATGAAGCAAGACAAGCTATCCTGTTGAAATCCTTCCAGGCCAATCCCCCTTAAAACACACACACACACACACACACACACACACACACACACACACAACCTTAATTTCTTCATTCTCTGCTCTACCCCCAAGCCAATACCCACTGGTGATACTAAGATACTCATCTGGTTCAGAGAATAGCAGAAACTACCCATTCTTTTACCCTTCAAGATGCTCCCTAAGCACCCAGACCATTTCATTTTTTATCATCATCATCATCATCTGTTTGCATCATCTGGGGAAATTTGGTCTGAGTTAGAGTCTAGGGCAGTGTTAGGAAGAGTACAGATGGGACTTGAACAAAAGGAAATAAGCAGTGGTGGAGGAGAAACAACATGTTAAAACTTCCTGGAAGCACTGGGACATTTTCTGAAGGACTGGCAGAAATGCCAGATTGTGGGTGGCAAAATTGTTTTGACAGAATGAAGTAGAAGAGCTAGGGGTGTATATTAACTAGCAGCTATGTCTGCACAGGCTCAAATTCAGTATTGCTATTTGTTCTGATAGCAGAAAGTGGGGCAAGCCACTGAAATAGGAGACAATTCACTTAATACAAGGTGCCTGGCACCCTTGCCCAAGCAGTAACTTGTACTTTTCCAGCACAGAAAGAATTTTAATCACTTGAGCCCTTGGACCCTGGATCTGATAGCCAGATCTTCTGTGGAGCAGGGTGATCTCTGGGGAGTTTAGCCCTTCTTGGAGAGGCTCATTACATTCTCCATTCGAAAAAGTCTGAACCATT
TGGTGCCTATATGCCCTTCCCTGACCCTTACCACAGACCCCACCAGGGAACAAGGAATAGGCTGAGTTTGATCTCTTAAAGTCTACTTTTTAACTTGTCTGAAAATGGCCTCATGGCAGAGGAGAGTAGAGATGACACTGATTTCTTCATTTTATACCAAGTCTCAGGAATGGCTGAGGGAAGCCATGGTTATTTGATCAGAAGGTATAATTTCATTTCCTTCCAGCATTGCCTAATGAAATAGCTGGCACTTTTCAGAAGGGCACTGGGAGGTGTAACTGAGAATAGTGGCTGCCAGCCACAGAGTTCTGCTCCTGCCCAAACCTTAACAAAGCATCACCAATTCTCAGAGGCTCTGTACAGCAGTTTGGAAATCTGAGAATTTACCCATCCCTCATGGTGGGATTGTGTTAACTTTCTGGGGAATCTGTGCCCTGTGAATCTAGTTTTACTTGAGCATCCGTGTTAAGAGAGGAAGGCCCTTGCATTTTCCCTCCCTTCTCCCAAAGAGTTGGGGTTAAGGAAGAAGGATCTAGGCTGAGCAGGAAAGGAAGAAGAGAAGCCAGGTACAGTGTAATCTGGAATATTATTTTCAGACCTTTCCATGGGGCCTGGGTACTGGACTCTTTTCAAAGGAACATATTGGCTTGGGTCCTTCCATTCACAGGACACAGGGAAACAGATCTTCTCTGGGCTGCCTGGAAGATAGGTTTAAAGGTTTAGATAACAACTTGTGTTAGTCACTCCAAATTGAAGAGTTCAGAATCCAGGATAGATATGGGTGGTTATATGTTTATGTTTCTTGGGCCAACTCCAATTCTCTGAGAACAGAGGCTATGAGGGAACTGGGTATCCTGAGAGTGTTCACTTGAGAAACTACAGAGGGAAAACAGTGGCGACCATGGTTCTAGCTTATGGTCAGAAGTCACCAGCAGAAATCAAGCTTCACAGTGGCAAACCCTGGCTTCTTTCAACAGAGATTGGTAGAAACCCTAGGATATGTTGATATCAGATTCCTGTATTTCTGAAAGCACAGACCACAAAGTGACCATCAGAGAGAGTCTTGCCTTTGGGAACTTGCTAGATGGAAAGGTAACAGAGGGAGCTCCAGCCTCAAGTCACCAAACTTCATGGTGGTGGTGGGAGGTAGGGGGCAGTCTATCCTTCCAACCACATGGTCCTCCTAATGTGAGTATCCAAGCATGGCTGAGGCCTTCTAAGCCACTTCAGCCTAATCCCACTCTTTCCCCCATCCTGGCTTAAGGGAGGTATGTGTATTGGGGCAGAAGCTGGGGAAGTGGAAAGGGGACAGTGGGAGGCGAACCTGGACTCCAGTTGGCCTAAGCTACCAACAGGCCACTGGGTTAAAGAAGAGGGAGTGGAGGATGGGTGCTTCGGGGGATCTCCAGTAAACCCGGGTAGTATTCCTTACCAGGGCATTGGAAGAGAGGAAAAGAGACCAGAGGAATGGGGGAGTGGGAACAGGTCATCAGACATTGCTGATGCGCACACTAAGGGCACTGCCCTCCTTCTCAGCTTGCTCCCTTAATGACTCCTCCAACTTGAGCTTTTCAGGGTCTCCGTAGCGTACAGTGCTGTCACGGAGGCCACTAGGAGAGGCCACTTTCACAACTTGGTCAAAAAGGCTAAAGTCAGCTATGTATTTACCACTGGCTGACAGTGAGATGGCAGGTGTGAACTCGTAGCCCCAAAGGATCTCCTCTGGCAGGTAGGAAGTGCGCACCTGACAGGTGGCACTGGTGGACTCCACTGTCCCACTTAGGATCAGCACCAGCTCAAAGTCACCCTCACCACTGCGAAGAGGGAGATCTTTCAAGGGACTGGTCTCATCTACCACATGATAGAAGGTAAGGGGTAGAATAAGGAAGGGGCTGTCAGAGGCTGTGTCTACTTGGAAAGTCACATTGACCTGGTTGAGCCGGATGTTCTCCCCTTCCTTGGTTTGGTGGGTCTGAAGCAGTTTTCCTGTCACCTGGCAGCCAATGAGGAGGCTTTTGCGCATATTGGCAACTCGGATCATGAGGCAGTGCTTGCCATTGTGGGAGGCCACAACTGCATGCTGGCTGAAACGAATGGTCTCAGCCCGCTTCTTGGGCCGGGCAATCTTCGCCAGGAAGGTACCTGTGATGAAGATTTCCAGGATGGTGGTGAGCACCAGCTGGGCAATAAGAAGCACAATGGCCAGTGGACATTCCTCACTGATGTAGCGGAAGCCATAGCCAATGGTGGTTTGGGATTCAAGGGAGAAGAGGAAGGCTCCAGTGAGTGTGTGCACCTGTACCACACAGGGGGTGTGGTTGGCCGGGGGGTCCAGCTCCAGCAGGTCCCCATGTGCCACAGCTACCAGATACCACACCACGCCAAAGAGGAACCATGTGCCTGCAAAGGTCGCAGAGAAGAGCAGAAGCTTGTAGCGCCACTGCATGTCAATGAAGGTTGTCCACAGGTCCTTGAGGTAGAGGAAGCGCTTGTCGGCAATGTGCTCCATTCTCACGTTGCTGCGACCATCTTTTGTCAGGACTCTCCGCCGTCGTATCCCTGGGCCCATTAGGGGCCGGCTTTCTGTCTGAGTGGTCTGACTGTAATACACCTTGGCAACTGACGTCATCTGGAGGGAGCAAGACAGCATAATGGAGGTTATCGTAGAAATCCAGCTGACTCCTAACCCTCACCCCATGGGAGGGAGGAATTAACATTCATTTGAATGTCGCTTATGTGTTCTTGTCTTACCAAATATTTATTGAGCACTTGCTATGTGCCAGGCACTGTGCAGGGGCCGAGGCGGGTGGATCGCCTGAGGTCAGGAGTTCAAGACCAGCCTGGCCAACAAGGCAAAACCCTGTCTCTACTAAAAATACAAAAATTAGCTGGGCATGGTGGCATGCGCCTGTAGTCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATCGCTTGAACCCGGGAGACAGAGGTTGCAGTGAGCCGACATCGCGCCACTGCACTCCAGCCTGGGTGACACAGCGAGACTCCGTCTCAAAAAAAAAAAAAAGTAAATAAAATAAAATAAAATAAAATGACATCATTCTGCTCTCCAAGAACTCACAGCCTAGTGAGAAAGATGCCTATTTAGTAAGCAAATAATTGCAACACAGTCTGATATTTGTAATTCTTAGCGGAAGAGAGGCAGAAAAGAAAGAGTAGTAGCTTCACATTCCTTGAAGGTGAGGGTGAGACTAATGAGAGCCTTCACCACAAAACCAGTCCTCCGAAGAGCTCTAATTTTGAAATAGGATCCATCCCCACCCTTATGAATGGCTATGAAGCAAGACAAGCTATCCTGTTGAAATCCTTCCAGGCCAATCCCCCTTAAAACACACACACACACACACACACACACACACACACACACACACAACCTTAATTTCTTCATTCTCTGCTCTACCCCCAAGCCAATACCCACTGGTGATACTAAGATACTCATCTGGTTCAGAGAATAGCAGAAACTACCCATTCTTTTACCCTTCAAGATGCTCCCTAAGCACCCAGACCATTTCATTTTTTATCATCATCATCATCATCTGTTTGCATCATCTGGGGAAATTTGGTCTGAGTTAGAGTCTAGGGCAGTGTTAGGAAGAGTACAGATGGGACTTGAACAAAAGGAAATAAGCAGTGGTGGAGGAGAAACAACATGTTAAAACTTCCTGGAAGCACTGGGACATTTTCTGAAGGACTGGCAGAAATGCCAGATTGTGGGTGGCAAAATTGTTTTGACAGAATGAAGTAGAAGAGCTAGGGGTGTATATTAACTAGCAGCTATGTCTGCACAGGCTCAAATTCAGTATTGCTATTTGTTCTGATAGCAGAAAGTGGGGCAAGCCACTGAAATAGGAGACAATTCACTTAATACAAGGTGCCTGGCACCCTTGCCCAAGCAGTAACTTGTACTTTTCCAGCACAGAAAGAATTTTAATCACTTGAGCCCTTGGACCCTGGATCTGATAGCCAGATCTTCTGTGGAGCAGGGTGATCTCTGGGGAGTTTAGCCCTTCTTGGAGAGGCTCATTACATTCTCCATTCGAAAAAGTCTGAACCATT
Task1_train_1914
The gene KCNJ10 (potassium inwardly rectifying channel subfamily J member 10) is located on Chromosome 1, where a mutation has occurred. What is the medical relevance of this mutation?
Pathogenic; EAST syndrome
TGGTGCCTATATGCCCTTCCCTGACCCTTACCACAGACCCCACCAGGGAACAAGGAATAGGCTGAGTTTGATCTCTTAAAGTCTACTTTTTAACTTGTCTGAAAATGGCCTCATGGCAGAGGAGAGTAGAGATGACACTGATTTCTTCATTTTATACCAAGTCTCAGGAATGGCTGAGGGAAGCCATGGTTATTTGATCAGAAGGTATAATTTCATTTCCTTCCAGCATTGCCTAATGAAATAGCTGGCACTTTTCAGAAGGGCACTGGGAGGTGTAACTGAGAATAGTGGCTGCCAGCCACAGAGTTCTGCTCCTGCCCAAACCTTAACAAAGCATCACCAATTCTCAGAGGCTCTGTACAGCAGTTTGGAAATCTGAGAATTTACCCATCCCTCATGGTGGGATTGTGTTAACTTTCTGGGGAATCTGTGCCCTGTGAATCTAGTTTTACTTGAGCATCCGTGTTAAGAGAGGAAGGCCCTTGCATTTTCCCTCCCTTCTCCCAAAGAGTTGGGGTTAAGGAAGAAGGATCTAGGCTGAGCAGGAAAGGAAGAAGAGAAGCCAGGTACAGTGTAATCTGGAATATTATTTTCAGACCTTTCCATGGGGCCTGGGTACTGGACTCTTTTCAAAGGAACATATTGGCTTGGGTCCTTCCATTCACAGGACACAGGGAAACAGATCTTCTCTGGGCTGCCTGGAAGATAGGTTTAAAGGTTTAGATAACAACTTGTGTTAGTCACTCCAAATTGAAGAGTTCAGAATCCAGGATAGATATGGGTGGTTATATGTTTATGTTTCTTGGGCCAACTCCAATTCTCTGAGAACAGAGGCTATGAGGGAACTGGGTATCCTGAGAGTGTTCACTTGAGAAACTACAGAGGGAAAACAGTGGCGACCATGGTTCTAGCTTATGGTCAGAAGTCACCAGCAGAAATCAAGCTTCACAGTGGCAAACCCTGGCTTCTTTCAACAGAGATTGGTAGAAACCCTAGGATATGTTGATATCAGATTCCTGTATTTCTGAAAGCACAGACCACAAAGTGACCATCAGAGAGAGTCTTGCCTTTGGGAACTTGCTAGATGGAAAGGTAACAGAGGGAGCTCCAGCCTCAAGTCACCAAACTTCATGGTGGTGGTGGGAGGTAGGGGGCAGTCTATCCTTCCAACCACATGGTCCTCCTAATGTGAGTATCCAAGCATGGCTGAGGCCTTCTAAGCCACTTCAGCCTAATCCCACTCTTTCCCCCATCCTGGCTTAAGGGAGGTATGTGTATTGGGGCAGAAGCTGGGGAAGTGGAAAGGGGACAGTGGGAGGCGAACCTGGACTCCAGTTGGCCTAAGCTACCAACAGGCCACTGGGTTAAAGAAGAGGGAGTGGAGGATGGGTGCTTCGGGGGATCTCCAGTAAACCCGGGTAGTATTCCTTACCAGGGCATTGGAAGAGAGGAAAAGAGACCAGAGGAATGGGGGAGTGGGAACAGGTCATCAGACATTGCTGATGCGCACACTAAGGGCACTGCCCTCCTTCTCAGCTTGCTCCCTTAATGACTCCTCCAACTTGAGCTTTTCAGGGTCTCCGTAGCGTACAGTGCTGTCACGGAGGCCACTAGGAGAGGCCACTTTCACAACTTGGTCAAAAAGGCTAAAGTCAGCTATGTATTTACCACTGGCTGACAGTGAGATGGCAGGTGTGAACTCGTAGCCCCAAAGGATCTCCTCTGGCAGGTAGGAAGTGCGCACCTGACAGGTGGCACTGGTGGACTCCACTGTCCCACTTAGGATCAGCACCAGCTCAAAGTCACCCTCACCACTGCGAAGAGGGAGATCTTTCAAGGGACTGGTCTCATCTACCACATGATAGAAGGTAAGGGGTAGAATAAGGAAGGGGCTGTCAGAGGCTGTGTCTACTTGGAAAGTCACATTGACCTGGTTGAGCCGGATGTTCTCCCCTTCCTTGGTTTGGTGGGTCTGAAGCAGTTTTCCTGTCACCTGGCAGCCAATGAGGAGGCTTTTGCGCATATTGGCAACTCGGATCATGAGGCAGGGCTTGCCATTGTGGGAGGCCACAACTGCATGCTGGCTGAAACGAATGGTCTCAGCCCGCTTCTTGGGCCGGGCAATCTTCGCCAGGAAGGTACCTGTGATGAAGATTTCCAGGATGGTGGTGAGCACCAGCTGGGCAATAAGAAGCACAATGGCCAGTGGACATTCCTCACTGATGTAGCGGAAGCCATAGCCAATGGTGGTTTGGGATTCAAGGGAGAAGAGGAAGGCTCCAGTGAGTGTGTGCACCTGTACCACACAGGGGGTGTGGTTGGCCGGGGGGTCCAGCTCCAGCAGGTCCCCATGTGCCACAGCTACCAGATACCACACCACGCCAAAGAGGAACCATGTGCCTGCAAAGGTCGCAGAGAAGAGCAGAAGCTTGTAGCGCCACTGCATGTCAATGAAGGTTGTCCACAGGTCCTTGAGGTAGAGGAAGCGCTTGTCGGCAATGTGCTCCATTCTCACGTTGCTGCGACCATCTTTTGTCAGGACTCTCCGCCGTCGTATCCCTGGGCCCATTAGGGGCCGGCTTTCTGTCTGAGTGGTCTGACTGTAATACACCTTGGCAACTGACGTCATCTGGAGGGAGCAAGACAGCATAATGGAGGTTATCGTAGAAATCCAGCTGACTCCTAACCCTCACCCCATGGGAGGGAGGAATTAACATTCATTTGAATGTCGCTTATGTGTTCTTGTCTTACCAAATATTTATTGAGCACTTGCTATGTGCCAGGCACTGTGCAGGGGCCGAGGCGGGTGGATCGCCTGAGGTCAGGAGTTCAAGACCAGCCTGGCCAACAAGGCAAAACCCTGTCTCTACTAAAAATACAAAAATTAGCTGGGCATGGTGGCATGCGCCTGTAGTCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATCGCTTGAACCCGGGAGACAGAGGTTGCAGTGAGCCGACATCGCGCCACTGCACTCCAGCCTGGGTGACACAGCGAGACTCCGTCTCAAAAAAAAAAAAAAGTAAATAAAATAAAATAAAATAAAATGACATCATTCTGCTCTCCAAGAACTCACAGCCTAGTGAGAAAGATGCCTATTTAGTAAGCAAATAATTGCAACACAGTCTGATATTTGTAATTCTTAGCGGAAGAGAGGCAGAAAAGAAAGAGTAGTAGCTTCACATTCCTTGAAGGTGAGGGTGAGACTAATGAGAGCCTTCACCACAAAACCAGTCCTCCGAAGAGCTCTAATTTTGAAATAGGATCCATCCCCACCCTTATGAATGGCTATGAAGCAAGACAAGCTATCCTGTTGAAATCCTTCCAGGCCAATCCCCCTTAAAACACACACACACACACACACACACACACACACACACACACACAACCTTAATTTCTTCATTCTCTGCTCTACCCCCAAGCCAATACCCACTGGTGATACTAAGATACTCATCTGGTTCAGAGAATAGCAGAAACTACCCATTCTTTTACCCTTCAAGATGCTCCCTAAGCACCCAGACCATTTCATTTTTTATCATCATCATCATCATCTGTTTGCATCATCTGGGGAAATTTGGTCTGAGTTAGAGTCTAGGGCAGTGTTAGGAAGAGTACAGATGGGACTTGAACAAAAGGAAATAAGCAGTGGTGGAGGAGAAACAACATGTTAAAACTTCCTGGAAGCACTGGGACATTTTCTGAAGGACTGGCAGAAATGCCAGATTGTGGGTGGCAAAATTGTTTTGACAGAATGAAGTAGAAGAGCTAGGGGTGTATATTAACTAGCAGCTATGTCTGCACAGGCTCAAATTCAGTATTGCTATTTGTTCTGATAGCAGAAAGTGGGGCAAGCCACTGAAATAGGAGACAATTCACTTAATACAAGGTGCCTGGCACCCTTGCCCAAGCAGTAACTTGTACTTTTCCAGCACAGAAAGAATTTTAATCACTTGAGCCCTTGGACCCTGGATCTGATAGCCAGATCTTCTGTGGAGCAGGGTGATCTCTGGGGAGTTTAGCCCTTCTTGGAGAGGCTCATTACATTCTCCATTCGAAAAAGTCTGAACCATT
TGGTGCCTATATGCCCTTCCCTGACCCTTACCACAGACCCCACCAGGGAACAAGGAATAGGCTGAGTTTGATCTCTTAAAGTCTACTTTTTAACTTGTCTGAAAATGGCCTCATGGCAGAGGAGAGTAGAGATGACACTGATTTCTTCATTTTATACCAAGTCTCAGGAATGGCTGAGGGAAGCCATGGTTATTTGATCAGAAGGTATAATTTCATTTCCTTCCAGCATTGCCTAATGAAATAGCTGGCACTTTTCAGAAGGGCACTGGGAGGTGTAACTGAGAATAGTGGCTGCCAGCCACAGAGTTCTGCTCCTGCCCAAACCTTAACAAAGCATCACCAATTCTCAGAGGCTCTGTACAGCAGTTTGGAAATCTGAGAATTTACCCATCCCTCATGGTGGGATTGTGTTAACTTTCTGGGGAATCTGTGCCCTGTGAATCTAGTTTTACTTGAGCATCCGTGTTAAGAGAGGAAGGCCCTTGCATTTTCCCTCCCTTCTCCCAAAGAGTTGGGGTTAAGGAAGAAGGATCTAGGCTGAGCAGGAAAGGAAGAAGAGAAGCCAGGTACAGTGTAATCTGGAATATTATTTTCAGACCTTTCCATGGGGCCTGGGTACTGGACTCTTTTCAAAGGAACATATTGGCTTGGGTCCTTCCATTCACAGGACACAGGGAAACAGATCTTCTCTGGGCTGCCTGGAAGATAGGTTTAAAGGTTTAGATAACAACTTGTGTTAGTCACTCCAAATTGAAGAGTTCAGAATCCAGGATAGATATGGGTGGTTATATGTTTATGTTTCTTGGGCCAACTCCAATTCTCTGAGAACAGAGGCTATGAGGGAACTGGGTATCCTGAGAGTGTTCACTTGAGAAACTACAGAGGGAAAACAGTGGCGACCATGGTTCTAGCTTATGGTCAGAAGTCACCAGCAGAAATCAAGCTTCACAGTGGCAAACCCTGGCTTCTTTCAACAGAGATTGGTAGAAACCCTAGGATATGTTGATATCAGATTCCTGTATTTCTGAAAGCACAGACCACAAAGTGACCATCAGAGAGAGTCTTGCCTTTGGGAACTTGCTAGATGGAAAGGTAACAGAGGGAGCTCCAGCCTCAAGTCACCAAACTTCATGGTGGTGGTGGGAGGTAGGGGGCAGTCTATCCTTCCAACCACATGGTCCTCCTAATGTGAGTATCCAAGCATGGCTGAGGCCTTCTAAGCCACTTCAGCCTAATCCCACTCTTTCCCCCATCCTGGCTTAAGGGAGGTATGTGTATTGGGGCAGAAGCTGGGGAAGTGGAAAGGGGACAGTGGGAGGCGAACCTGGACTCCAGTTGGCCTAAGCTACCAACAGGCCACTGGGTTAAAGAAGAGGGAGTGGAGGATGGGTGCTTCGGGGGATCTCCAGTAAACCCGGGTAGTATTCCTTACCAGGGCATTGGAAGAGAGGAAAAGAGACCAGAGGAATGGGGGAGTGGGAACAGGTCATCAGACATTGCTGATGCGCACACTAAGGGCACTGCCCTCCTTCTCAGCTTGCTCCCTTAATGACTCCTCCAACTTGAGCTTTTCAGGGTCTCCGTAGCGTACAGTGCTGTCACGGAGGCCACTAGGAGAGGCCACTTTCACAACTTGGTCAAAAAGGCTAAAGTCAGCTATGTATTTACCACTGGCTGACAGTGAGATGGCAGGTGTGAACTCGTAGCCCCAAAGGATCTCCTCTGGCAGGTAGGAAGTGCGCACCTGACAGGTGGCACTGGTGGACTCCACTGTCCCACTTAGGATCAGCACCAGCTCAAAGTCACCCTCACCACTGCGAAGAGGGAGATCTTTCAAGGGACTGGTCTCATCTACCACATGATAGAAGGTAAGGGGTAGAATAAGGAAGGGGCTGTCAGAGGCTGTGTCTACTTGGAAAGTCACATTGACCTGGTTGAGCCGGATGTTCTCCCCTTCCTTGGTTTGGTGGGTCTGAAGCAGTTTTCCTGTCACCTGGCAGCCAATGAGGAGGCTTTTGCGCATATTGGCAACTCGGATCATGAGGCAGTGCTTGCCATTGTGGGAGGCCACAACTGCATGCTGGCTGAAACGAATGGTCTCAGCCCGCTTCTTGGGCCGGGCAATCTTCGCCAGGAAGGTACCTGTGATGAAGATTTCCAGGATGGTGGTGAGCACCAGCTGGGCAATAAGAAGCACAATGGCCAGTGGACATTCCTCACTGATGTAGCGGAAGCCATAGCCAATGGTGGTTTGGGATTCAAGGGAGAAGAGGAAGGCTCCAGTGAGTGTGTGCACCTGTACCACACAGGGGGTGTGGTTGGCCGGGGGGTCCAGCTCCAGCAGGTCCCCATGTGCCACAGCTACCAGATACCACACCACGCCAAAGAGGAACCATGTGCCTGCAAAGGTCGCAGAGAAGAGCAGAAGCTTGTAGCGCCACTGCATGTCAATGAAGGTTGTCCACAGGTCCTTGAGGTAGAGGAAGCGCTTGTCGGCAATGTGCTCCATTCTCACGTTGCTGCGACCATCTTTTGTCAGGACTCTCCGCCGTCGTATCCCTGGGCCCATTAGGGGCCGGCTTTCTGTCTGAGTGGTCTGACTGTAATACACCTTGGCAACTGACGTCATCTGGAGGGAGCAAGACAGCATAATGGAGGTTATCGTAGAAATCCAGCTGACTCCTAACCCTCACCCCATGGGAGGGAGGAATTAACATTCATTTGAATGTCGCTTATGTGTTCTTGTCTTACCAAATATTTATTGAGCACTTGCTATGTGCCAGGCACTGTGCAGGGGCCGAGGCGGGTGGATCGCCTGAGGTCAGGAGTTCAAGACCAGCCTGGCCAACAAGGCAAAACCCTGTCTCTACTAAAAATACAAAAATTAGCTGGGCATGGTGGCATGCGCCTGTAGTCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATCGCTTGAACCCGGGAGACAGAGGTTGCAGTGAGCCGACATCGCGCCACTGCACTCCAGCCTGGGTGACACAGCGAGACTCCGTCTCAAAAAAAAAAAAAAGTAAATAAAATAAAATAAAATAAAATGACATCATTCTGCTCTCCAAGAACTCACAGCCTAGTGAGAAAGATGCCTATTTAGTAAGCAAATAATTGCAACACAGTCTGATATTTGTAATTCTTAGCGGAAGAGAGGCAGAAAAGAAAGAGTAGTAGCTTCACATTCCTTGAAGGTGAGGGTGAGACTAATGAGAGCCTTCACCACAAAACCAGTCCTCCGAAGAGCTCTAATTTTGAAATAGGATCCATCCCCACCCTTATGAATGGCTATGAAGCAAGACAAGCTATCCTGTTGAAATCCTTCCAGGCCAATCCCCCTTAAAACACACACACACACACACACACACACACACACACACACACACAACCTTAATTTCTTCATTCTCTGCTCTACCCCCAAGCCAATACCCACTGGTGATACTAAGATACTCATCTGGTTCAGAGAATAGCAGAAACTACCCATTCTTTTACCCTTCAAGATGCTCCCTAAGCACCCAGACCATTTCATTTTTTATCATCATCATCATCATCTGTTTGCATCATCTGGGGAAATTTGGTCTGAGTTAGAGTCTAGGGCAGTGTTAGGAAGAGTACAGATGGGACTTGAACAAAAGGAAATAAGCAGTGGTGGAGGAGAAACAACATGTTAAAACTTCCTGGAAGCACTGGGACATTTTCTGAAGGACTGGCAGAAATGCCAGATTGTGGGTGGCAAAATTGTTTTGACAGAATGAAGTAGAAGAGCTAGGGGTGTATATTAACTAGCAGCTATGTCTGCACAGGCTCAAATTCAGTATTGCTATTTGTTCTGATAGCAGAAAGTGGGGCAAGCCACTGAAATAGGAGACAATTCACTTAATACAAGGTGCCTGGCACCCTTGCCCAAGCAGTAACTTGTACTTTTCCAGCACAGAAAGAATTTTAATCACTTGAGCCCTTGGACCCTGGATCTGATAGCCAGATCTTCTGTGGAGCAGGGTGATCTCTGGGGAGTTTAGCCCTTCTTGGAGAGGCTCATTACATTCTCCATTCGAAAAAGTCTGAACCATT
Task1_train_1915
A genetic alteration is present in KCNJ10 (potassium inwardly rectifying channel subfamily J member 10) on Chromosome 1. Is this variant benign or disease-causing, and if the latter, which condition is involved?
Pathogenic; EAST syndrome
TCTACTTTTTAACTTGTCTGAAAATGGCCTCATGGCAGAGGAGAGTAGAGATGACACTGATTTCTTCATTTTATACCAAGTCTCAGGAATGGCTGAGGGAAGCCATGGTTATTTGATCAGAAGGTATAATTTCATTTCCTTCCAGCATTGCCTAATGAAATAGCTGGCACTTTTCAGAAGGGCACTGGGAGGTGTAACTGAGAATAGTGGCTGCCAGCCACAGAGTTCTGCTCCTGCCCAAACCTTAACAAAGCATCACCAATTCTCAGAGGCTCTGTACAGCAGTTTGGAAATCTGAGAATTTACCCATCCCTCATGGTGGGATTGTGTTAACTTTCTGGGGAATCTGTGCCCTGTGAATCTAGTTTTACTTGAGCATCCGTGTTAAGAGAGGAAGGCCCTTGCATTTTCCCTCCCTTCTCCCAAAGAGTTGGGGTTAAGGAAGAAGGATCTAGGCTGAGCAGGAAAGGAAGAAGAGAAGCCAGGTACAGTGTAATCTGGAATATTATTTTCAGACCTTTCCATGGGGCCTGGGTACTGGACTCTTTTCAAAGGAACATATTGGCTTGGGTCCTTCCATTCACAGGACACAGGGAAACAGATCTTCTCTGGGCTGCCTGGAAGATAGGTTTAAAGGTTTAGATAACAACTTGTGTTAGTCACTCCAAATTGAAGAGTTCAGAATCCAGGATAGATATGGGTGGTTATATGTTTATGTTTCTTGGGCCAACTCCAATTCTCTGAGAACAGAGGCTATGAGGGAACTGGGTATCCTGAGAGTGTTCACTTGAGAAACTACAGAGGGAAAACAGTGGCGACCATGGTTCTAGCTTATGGTCAGAAGTCACCAGCAGAAATCAAGCTTCACAGTGGCAAACCCTGGCTTCTTTCAACAGAGATTGGTAGAAACCCTAGGATATGTTGATATCAGATTCCTGTATTTCTGAAAGCACAGACCACAAAGTGACCATCAGAGAGAGTCTTGCCTTTGGGAACTTGCTAGATGGAAAGGTAACAGAGGGAGCTCCAGCCTCAAGTCACCAAACTTCATGGTGGTGGTGGGAGGTAGGGGGCAGTCTATCCTTCCAACCACATGGTCCTCCTAATGTGAGTATCCAAGCATGGCTGAGGCCTTCTAAGCCACTTCAGCCTAATCCCACTCTTTCCCCCATCCTGGCTTAAGGGAGGTATGTGTATTGGGGCAGAAGCTGGGGAAGTGGAAAGGGGACAGTGGGAGGCGAACCTGGACTCCAGTTGGCCTAAGCTACCAACAGGCCACTGGGTTAAAGAAGAGGGAGTGGAGGATGGGTGCTTCGGGGGATCTCCAGTAAACCCGGGTAGTATTCCTTACCAGGGCATTGGAAGAGAGGAAAAGAGACCAGAGGAATGGGGGAGTGGGAACAGGTCATCAGACATTGCTGATGCGCACACTAAGGGCACTGCCCTCCTTCTCAGCTTGCTCCCTTAATGACTCCTCCAACTTGAGCTTTTCAGGGTCTCCGTAGCGTACAGTGCTGTCACGGAGGCCACTAGGAGAGGCCACTTTCACAACTTGGTCAAAAAGGCTAAAGTCAGCTATGTATTTACCACTGGCTGACAGTGAGATGGCAGGTGTGAACTCGTAGCCCCAAAGGATCTCCTCTGGCAGGTAGGAAGTGCGCACCTGACAGGTGGCACTGGTGGACTCCACTGTCCCACTTAGGATCAGCACCAGCTCAAAGTCACCCTCACCACTGCGAAGAGGGAGATCTTTCAAGGGACTGGTCTCATCTACCACATGATAGAAGGTAAGGGGTAGAATAAGGAAGGGGCTGTCAGAGGCTGTGTCTACTTGGAAAGTCACATTGACCTGGTTGAGCCGGATGTTCTCCCCTTCCTTGGTTTGGTGGGTCTGAAGCAGTTTTCCTGTCACCTGGCAGCCAATGAGGAGGCTTTTGCGCATATTGGCAACTCGGATCATGAGGCAGGGCTTGCCATTGTGGGAGGCCACAACTGCATGCTGGCTGAAACGAATGGTCTCAGCCCGCTTCTTGGGCCGGGCAATCTTCGCCAGGAAGGTACCTGTGATGAAGATTTCCAGGATGGTGGTGAGCACCAGCTGGGCAATAAGAAGCACAATGGCCAGTGGACATTCCTCACTGATGTAGCGGAAGCCATAGCCAATGGTGGTTTGGGATTCAAGGGAGAAGAGGAAGGCTCCAGTGAGTGTGTGCACCTGTACCACACAGGGGGTGTGGTTGGCCGGGGGGTCCAGCTCCAGCAGGTCCCCATGTGCCACAGCTACCAGATACCACACCACGCCAAAGAGGAACCATGTGCCTGCAAAGGTCGCAGAGAAGAGCAGAAGCTTGTAGCGCCACTGCATGTCAATGAAGGTTGTCCACAGGTCCTTGAGGTAGAGGAAGCGCTTGTCGGCAATGTGCTCCATTCTCACGTTGCTGCGACCATCTTTTGTCAGGACTCTCCGCCGTCGTATCCCTGGGCCCATTAGGGGCCGGCTTTCTGTCTGAGTGGTCTGACTGTAATACACCTTGGCAACTGACGTCATCTGGAGGGAGCAAGACAGCATAATGGAGGTTATCGTAGAAATCCAGCTGACTCCTAACCCTCACCCCATGGGAGGGAGGAATTAACATTCATTTGAATGTCGCTTATGTGTTCTTGTCTTACCAAATATTTATTGAGCACTTGCTATGTGCCAGGCACTGTGCAGGGGCCGAGGCGGGTGGATCGCCTGAGGTCAGGAGTTCAAGACCAGCCTGGCCAACAAGGCAAAACCCTGTCTCTACTAAAAATACAAAAATTAGCTGGGCATGGTGGCATGCGCCTGTAGTCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATCGCTTGAACCCGGGAGACAGAGGTTGCAGTGAGCCGACATCGCGCCACTGCACTCCAGCCTGGGTGACACAGCGAGACTCCGTCTCAAAAAAAAAAAAAAGTAAATAAAATAAAATAAAATAAAATGACATCATTCTGCTCTCCAAGAACTCACAGCCTAGTGAGAAAGATGCCTATTTAGTAAGCAAATAATTGCAACACAGTCTGATATTTGTAATTCTTAGCGGAAGAGAGGCAGAAAAGAAAGAGTAGTAGCTTCACATTCCTTGAAGGTGAGGGTGAGACTAATGAGAGCCTTCACCACAAAACCAGTCCTCCGAAGAGCTCTAATTTTGAAATAGGATCCATCCCCACCCTTATGAATGGCTATGAAGCAAGACAAGCTATCCTGTTGAAATCCTTCCAGGCCAATCCCCCTTAAAACACACACACACACACACACACACACACACACACACACACACAACCTTAATTTCTTCATTCTCTGCTCTACCCCCAAGCCAATACCCACTGGTGATACTAAGATACTCATCTGGTTCAGAGAATAGCAGAAACTACCCATTCTTTTACCCTTCAAGATGCTCCCTAAGCACCCAGACCATTTCATTTTTTATCATCATCATCATCATCTGTTTGCATCATCTGGGGAAATTTGGTCTGAGTTAGAGTCTAGGGCAGTGTTAGGAAGAGTACAGATGGGACTTGAACAAAAGGAAATAAGCAGTGGTGGAGGAGAAACAACATGTTAAAACTTCCTGGAAGCACTGGGACATTTTCTGAAGGACTGGCAGAAATGCCAGATTGTGGGTGGCAAAATTGTTTTGACAGAATGAAGTAGAAGAGCTAGGGGTGTATATTAACTAGCAGCTATGTCTGCACAGGCTCAAATTCAGTATTGCTATTTGTTCTGATAGCAGAAAGTGGGGCAAGCCACTGAAATAGGAGACAATTCACTTAATACAAGGTGCCTGGCACCCTTGCCCAAGCAGTAACTTGTACTTTTCCAGCACAGAAAGAATTTTAATCACTTGAGCCCTTGGACCCTGGATCTGATAGCCAGATCTTCTGTGGAGCAGGGTGATCTCTGGGGAGTTTAGCCCTTCTTGGAGAGGCTCATTACATTCTCCATTCGAAAAAGTCTGAACCATTGCATTTTATGATTCTTCACACTGCCCACCCCACCCCCCATCTCTATTTTCCCCATGGCCTTGTCCCTGGAAAACTTCAAAT
TCTACTTTTTAACTTGTCTGAAAATGGCCTCATGGCAGAGGAGAGTAGAGATGACACTGATTTCTTCATTTTATACCAAGTCTCAGGAATGGCTGAGGGAAGCCATGGTTATTTGATCAGAAGGTATAATTTCATTTCCTTCCAGCATTGCCTAATGAAATAGCTGGCACTTTTCAGAAGGGCACTGGGAGGTGTAACTGAGAATAGTGGCTGCCAGCCACAGAGTTCTGCTCCTGCCCAAACCTTAACAAAGCATCACCAATTCTCAGAGGCTCTGTACAGCAGTTTGGAAATCTGAGAATTTACCCATCCCTCATGGTGGGATTGTGTTAACTTTCTGGGGAATCTGTGCCCTGTGAATCTAGTTTTACTTGAGCATCCGTGTTAAGAGAGGAAGGCCCTTGCATTTTCCCTCCCTTCTCCCAAAGAGTTGGGGTTAAGGAAGAAGGATCTAGGCTGAGCAGGAAAGGAAGAAGAGAAGCCAGGTACAGTGTAATCTGGAATATTATTTTCAGACCTTTCCATGGGGCCTGGGTACTGGACTCTTTTCAAAGGAACATATTGGCTTGGGTCCTTCCATTCACAGGACACAGGGAAACAGATCTTCTCTGGGCTGCCTGGAAGATAGGTTTAAAGGTTTAGATAACAACTTGTGTTAGTCACTCCAAATTGAAGAGTTCAGAATCCAGGATAGATATGGGTGGTTATATGTTTATGTTTCTTGGGCCAACTCCAATTCTCTGAGAACAGAGGCTATGAGGGAACTGGGTATCCTGAGAGTGTTCACTTGAGAAACTACAGAGGGAAAACAGTGGCGACCATGGTTCTAGCTTATGGTCAGAAGTCACCAGCAGAAATCAAGCTTCACAGTGGCAAACCCTGGCTTCTTTCAACAGAGATTGGTAGAAACCCTAGGATATGTTGATATCAGATTCCTGTATTTCTGAAAGCACAGACCACAAAGTGACCATCAGAGAGAGTCTTGCCTTTGGGAACTTGCTAGATGGAAAGGTAACAGAGGGAGCTCCAGCCTCAAGTCACCAAACTTCATGGTGGTGGTGGGAGGTAGGGGGCAGTCTATCCTTCCAACCACATGGTCCTCCTAATGTGAGTATCCAAGCATGGCTGAGGCCTTCTAAGCCACTTCAGCCTAATCCCACTCTTTCCCCCATCCTGGCTTAAGGGAGGTATGTGTATTGGGGCAGAAGCTGGGGAAGTGGAAAGGGGACAGTGGGAGGCGAACCTGGACTCCAGTTGGCCTAAGCTACCAACAGGCCACTGGGTTAAAGAAGAGGGAGTGGAGGATGGGTGCTTCGGGGGATCTCCAGTAAACCCGGGTAGTATTCCTTACCAGGGCATTGGAAGAGAGGAAAAGAGACCAGAGGAATGGGGGAGTGGGAACAGGTCATCAGACATTGCTGATGCGCACACTAAGGGCACTGCCCTCCTTCTCAGCTTGCTCCCTTAATGACTCCTCCAACTTGAGCTTTTCAGGGTCTCCGTAGCGTACAGTGCTGTCACGGAGGCCACTAGGAGAGGCCACTTTCACAACTTGGTCAAAAAGGCTAAAGTCAGCTATGTATTTACCACTGGCTGACAGTGAGATGGCAGGTGTGAACTCGTAGCCCCAAAGGATCTCCTCTGGCAGGTAGGAAGTGCGCACCTGACAGGTGGCACTGGTGGACTCCACTGTCCCACTTAGGATCAGCACCAGCTCAAAGTCACCCTCACCACTGCGAAGAGGGAGATCTTTCAAGGGACTGGTCTCATCTACCACATGATAGAAGGTAAGGGGTAGAATAAGGAAGGGGCTGTCAGAGGCTGTGTCTACTTGGAAAGTCACATTGACCTGGTTGAGCCGGATGTTCTCCCCTTCCTTGGTTTGGTGGGTCTGAAGCAGTTTTCCTGTCACCTGGCAGCCAATGAGGAGGCTTTTGCGCATATTGGCAACTCGGATCATGAGGCAGGGCTTGCCATTGTGGGAGGCCACAACTGCATGCTGGCTGAAACGAATGGTCTCAGCCCGCTTCTTGGGCCGGGCAATCTTCACCAGGAAGGTACCTGTGATGAAGATTTCCAGGATGGTGGTGAGCACCAGCTGGGCAATAAGAAGCACAATGGCCAGTGGACATTCCTCACTGATGTAGCGGAAGCCATAGCCAATGGTGGTTTGGGATTCAAGGGAGAAGAGGAAGGCTCCAGTGAGTGTGTGCACCTGTACCACACAGGGGGTGTGGTTGGCCGGGGGGTCCAGCTCCAGCAGGTCCCCATGTGCCACAGCTACCAGATACCACACCACGCCAAAGAGGAACCATGTGCCTGCAAAGGTCGCAGAGAAGAGCAGAAGCTTGTAGCGCCACTGCATGTCAATGAAGGTTGTCCACAGGTCCTTGAGGTAGAGGAAGCGCTTGTCGGCAATGTGCTCCATTCTCACGTTGCTGCGACCATCTTTTGTCAGGACTCTCCGCCGTCGTATCCCTGGGCCCATTAGGGGCCGGCTTTCTGTCTGAGTGGTCTGACTGTAATACACCTTGGCAACTGACGTCATCTGGAGGGAGCAAGACAGCATAATGGAGGTTATCGTAGAAATCCAGCTGACTCCTAACCCTCACCCCATGGGAGGGAGGAATTAACATTCATTTGAATGTCGCTTATGTGTTCTTGTCTTACCAAATATTTATTGAGCACTTGCTATGTGCCAGGCACTGTGCAGGGGCCGAGGCGGGTGGATCGCCTGAGGTCAGGAGTTCAAGACCAGCCTGGCCAACAAGGCAAAACCCTGTCTCTACTAAAAATACAAAAATTAGCTGGGCATGGTGGCATGCGCCTGTAGTCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATCGCTTGAACCCGGGAGACAGAGGTTGCAGTGAGCCGACATCGCGCCACTGCACTCCAGCCTGGGTGACACAGCGAGACTCCGTCTCAAAAAAAAAAAAAAGTAAATAAAATAAAATAAAATAAAATGACATCATTCTGCTCTCCAAGAACTCACAGCCTAGTGAGAAAGATGCCTATTTAGTAAGCAAATAATTGCAACACAGTCTGATATTTGTAATTCTTAGCGGAAGAGAGGCAGAAAAGAAAGAGTAGTAGCTTCACATTCCTTGAAGGTGAGGGTGAGACTAATGAGAGCCTTCACCACAAAACCAGTCCTCCGAAGAGCTCTAATTTTGAAATAGGATCCATCCCCACCCTTATGAATGGCTATGAAGCAAGACAAGCTATCCTGTTGAAATCCTTCCAGGCCAATCCCCCTTAAAACACACACACACACACACACACACACACACACACACACACACAACCTTAATTTCTTCATTCTCTGCTCTACCCCCAAGCCAATACCCACTGGTGATACTAAGATACTCATCTGGTTCAGAGAATAGCAGAAACTACCCATTCTTTTACCCTTCAAGATGCTCCCTAAGCACCCAGACCATTTCATTTTTTATCATCATCATCATCATCTGTTTGCATCATCTGGGGAAATTTGGTCTGAGTTAGAGTCTAGGGCAGTGTTAGGAAGAGTACAGATGGGACTTGAACAAAAGGAAATAAGCAGTGGTGGAGGAGAAACAACATGTTAAAACTTCCTGGAAGCACTGGGACATTTTCTGAAGGACTGGCAGAAATGCCAGATTGTGGGTGGCAAAATTGTTTTGACAGAATGAAGTAGAAGAGCTAGGGGTGTATATTAACTAGCAGCTATGTCTGCACAGGCTCAAATTCAGTATTGCTATTTGTTCTGATAGCAGAAAGTGGGGCAAGCCACTGAAATAGGAGACAATTCACTTAATACAAGGTGCCTGGCACCCTTGCCCAAGCAGTAACTTGTACTTTTCCAGCACAGAAAGAATTTTAATCACTTGAGCCCTTGGACCCTGGATCTGATAGCCAGATCTTCTGTGGAGCAGGGTGATCTCTGGGGAGTTTAGCCCTTCTTGGAGAGGCTCATTACATTCTCCATTCGAAAAAGTCTGAACCATTGCATTTTATGATTCTTCACACTGCCCACCCCACCCCCCATCTCTATTTTCCCCATGGCCTTGTCCCTGGAAAACTTCAAAT
Task1_train_1916
With a mutation on Chromosome 1 in gene KCNJ10 (potassium inwardly rectifying channel subfamily J member 10), classify this variant as benign or pathogenic. Include the disease if it's pathogenic.
Pathogenic; EAST syndrome
TCTACTTTTTAACTTGTCTGAAAATGGCCTCATGGCAGAGGAGAGTAGAGATGACACTGATTTCTTCATTTTATACCAAGTCTCAGGAATGGCTGAGGGAAGCCATGGTTATTTGATCAGAAGGTATAATTTCATTTCCTTCCAGCATTGCCTAATGAAATAGCTGGCACTTTTCAGAAGGGCACTGGGAGGTGTAACTGAGAATAGTGGCTGCCAGCCACAGAGTTCTGCTCCTGCCCAAACCTTAACAAAGCATCACCAATTCTCAGAGGCTCTGTACAGCAGTTTGGAAATCTGAGAATTTACCCATCCCTCATGGTGGGATTGTGTTAACTTTCTGGGGAATCTGTGCCCTGTGAATCTAGTTTTACTTGAGCATCCGTGTTAAGAGAGGAAGGCCCTTGCATTTTCCCTCCCTTCTCCCAAAGAGTTGGGGTTAAGGAAGAAGGATCTAGGCTGAGCAGGAAAGGAAGAAGAGAAGCCAGGTACAGTGTAATCTGGAATATTATTTTCAGACCTTTCCATGGGGCCTGGGTACTGGACTCTTTTCAAAGGAACATATTGGCTTGGGTCCTTCCATTCACAGGACACAGGGAAACAGATCTTCTCTGGGCTGCCTGGAAGATAGGTTTAAAGGTTTAGATAACAACTTGTGTTAGTCACTCCAAATTGAAGAGTTCAGAATCCAGGATAGATATGGGTGGTTATATGTTTATGTTTCTTGGGCCAACTCCAATTCTCTGAGAACAGAGGCTATGAGGGAACTGGGTATCCTGAGAGTGTTCACTTGAGAAACTACAGAGGGAAAACAGTGGCGACCATGGTTCTAGCTTATGGTCAGAAGTCACCAGCAGAAATCAAGCTTCACAGTGGCAAACCCTGGCTTCTTTCAACAGAGATTGGTAGAAACCCTAGGATATGTTGATATCAGATTCCTGTATTTCTGAAAGCACAGACCACAAAGTGACCATCAGAGAGAGTCTTGCCTTTGGGAACTTGCTAGATGGAAAGGTAACAGAGGGAGCTCCAGCCTCAAGTCACCAAACTTCATGGTGGTGGTGGGAGGTAGGGGGCAGTCTATCCTTCCAACCACATGGTCCTCCTAATGTGAGTATCCAAGCATGGCTGAGGCCTTCTAAGCCACTTCAGCCTAATCCCACTCTTTCCCCCATCCTGGCTTAAGGGAGGTATGTGTATTGGGGCAGAAGCTGGGGAAGTGGAAAGGGGACAGTGGGAGGCGAACCTGGACTCCAGTTGGCCTAAGCTACCAACAGGCCACTGGGTTAAAGAAGAGGGAGTGGAGGATGGGTGCTTCGGGGGATCTCCAGTAAACCCGGGTAGTATTCCTTACCAGGGCATTGGAAGAGAGGAAAAGAGACCAGAGGAATGGGGGAGTGGGAACAGGTCATCAGACATTGCTGATGCGCACACTAAGGGCACTGCCCTCCTTCTCAGCTTGCTCCCTTAATGACTCCTCCAACTTGAGCTTTTCAGGGTCTCCGTAGCGTACAGTGCTGTCACGGAGGCCACTAGGAGAGGCCACTTTCACAACTTGGTCAAAAAGGCTAAAGTCAGCTATGTATTTACCACTGGCTGACAGTGAGATGGCAGGTGTGAACTCGTAGCCCCAAAGGATCTCCTCTGGCAGGTAGGAAGTGCGCACCTGACAGGTGGCACTGGTGGACTCCACTGTCCCACTTAGGATCAGCACCAGCTCAAAGTCACCCTCACCACTGCGAAGAGGGAGATCTTTCAAGGGACTGGTCTCATCTACCACATGATAGAAGGTAAGGGGTAGAATAAGGAAGGGGCTGTCAGAGGCTGTGTCTACTTGGAAAGTCACATTGACCTGGTTGAGCCGGATGTTCTCCCCTTCCTTGGTTTGGTGGGTCTGAAGCAGTTTTCCTGTCACCTGGCAGCCAATGAGGAGGCTTTTGCGCATATTGGCAACTCGGATCATGAGGCAGGGCTTGCCATTGTGGGAGGCCACAACTGCATGCTGGCTGAAACGAATGGTCTCAGCCCGCTTCTTGGGCCGGGCAATCTTCGCCAGGAAGGTACCTGTGATGAAGATTTCCAGGATGGTGGTGAGCACCAGCTGGGCAATAAGAAGCACAATGGCCAGTGGACATTCCTCACTGATGTAGCGGAAGCCATAGCCAATGGTGGTTTGGGATTCAAGGGAGAAGAGGAAGGCTCCAGTGAGTGTGTGCACCTGTACCACACAGGGGGTGTGGTTGGCCGGGGGGTCCAGCTCCAGCAGGTCCCCATGTGCCACAGCTACCAGATACCACACCACGCCAAAGAGGAACCATGTGCCTGCAAAGGTCGCAGAGAAGAGCAGAAGCTTGTAGCGCCACTGCATGTCAATGAAGGTTGTCCACAGGTCCTTGAGGTAGAGGAAGCGCTTGTCGGCAATGTGCTCCATTCTCACGTTGCTGCGACCATCTTTTGTCAGGACTCTCCGCCGTCGTATCCCTGGGCCCATTAGGGGCCGGCTTTCTGTCTGAGTGGTCTGACTGTAATACACCTTGGCAACTGACGTCATCTGGAGGGAGCAAGACAGCATAATGGAGGTTATCGTAGAAATCCAGCTGACTCCTAACCCTCACCCCATGGGAGGGAGGAATTAACATTCATTTGAATGTCGCTTATGTGTTCTTGTCTTACCAAATATTTATTGAGCACTTGCTATGTGCCAGGCACTGTGCAGGGGCCGAGGCGGGTGGATCGCCTGAGGTCAGGAGTTCAAGACCAGCCTGGCCAACAAGGCAAAACCCTGTCTCTACTAAAAATACAAAAATTAGCTGGGCATGGTGGCATGCGCCTGTAGTCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATCGCTTGAACCCGGGAGACAGAGGTTGCAGTGAGCCGACATCGCGCCACTGCACTCCAGCCTGGGTGACACAGCGAGACTCCGTCTCAAAAAAAAAAAAAAGTAAATAAAATAAAATAAAATAAAATGACATCATTCTGCTCTCCAAGAACTCACAGCCTAGTGAGAAAGATGCCTATTTAGTAAGCAAATAATTGCAACACAGTCTGATATTTGTAATTCTTAGCGGAAGAGAGGCAGAAAAGAAAGAGTAGTAGCTTCACATTCCTTGAAGGTGAGGGTGAGACTAATGAGAGCCTTCACCACAAAACCAGTCCTCCGAAGAGCTCTAATTTTGAAATAGGATCCATCCCCACCCTTATGAATGGCTATGAAGCAAGACAAGCTATCCTGTTGAAATCCTTCCAGGCCAATCCCCCTTAAAACACACACACACACACACACACACACACACACACACACACACAACCTTAATTTCTTCATTCTCTGCTCTACCCCCAAGCCAATACCCACTGGTGATACTAAGATACTCATCTGGTTCAGAGAATAGCAGAAACTACCCATTCTTTTACCCTTCAAGATGCTCCCTAAGCACCCAGACCATTTCATTTTTTATCATCATCATCATCATCTGTTTGCATCATCTGGGGAAATTTGGTCTGAGTTAGAGTCTAGGGCAGTGTTAGGAAGAGTACAGATGGGACTTGAACAAAAGGAAATAAGCAGTGGTGGAGGAGAAACAACATGTTAAAACTTCCTGGAAGCACTGGGACATTTTCTGAAGGACTGGCAGAAATGCCAGATTGTGGGTGGCAAAATTGTTTTGACAGAATGAAGTAGAAGAGCTAGGGGTGTATATTAACTAGCAGCTATGTCTGCACAGGCTCAAATTCAGTATTGCTATTTGTTCTGATAGCAGAAAGTGGGGCAAGCCACTGAAATAGGAGACAATTCACTTAATACAAGGTGCCTGGCACCCTTGCCCAAGCAGTAACTTGTACTTTTCCAGCACAGAAAGAATTTTAATCACTTGAGCCCTTGGACCCTGGATCTGATAGCCAGATCTTCTGTGGAGCAGGGTGATCTCTGGGGAGTTTAGCCCTTCTTGGAGAGGCTCATTACATTCTCCATTCGAAAAAGTCTGAACCATTGCATTTTATGATTCTTCACACTGCCCACCCCACCCCCCATCTCTATTTTCCCCATGGCCTTGTCCCTGGAAAACTTCAAAT
TCTACTTTTTAACTTGTCTGAAAATGGCCTCATGGCAGAGGAGAGTAGAGATGACACTGATTTCTTCATTTTATACCAAGTCTCAGGAATGGCTGAGGGAAGCCATGGTTATTTGATCAGAAGGTATAATTTCATTTCCTTCCAGCATTGCCTAATGAAATAGCTGGCACTTTTCAGAAGGGCACTGGGAGGTGTAACTGAGAATAGTGGCTGCCAGCCACAGAGTTCTGCTCCTGCCCAAACCTTAACAAAGCATCACCAATTCTCAGAGGCTCTGTACAGCAGTTTGGAAATCTGAGAATTTACCCATCCCTCATGGTGGGATTGTGTTAACTTTCTGGGGAATCTGTGCCCTGTGAATCTAGTTTTACTTGAGCATCCGTGTTAAGAGAGGAAGGCCCTTGCATTTTCCCTCCCTTCTCCCAAAGAGTTGGGGTTAAGGAAGAAGGATCTAGGCTGAGCAGGAAAGGAAGAAGAGAAGCCAGGTACAGTGTAATCTGGAATATTATTTTCAGACCTTTCCATGGGGCCTGGGTACTGGACTCTTTTCAAAGGAACATATTGGCTTGGGTCCTTCCATTCACAGGACACAGGGAAACAGATCTTCTCTGGGCTGCCTGGAAGATAGGTTTAAAGGTTTAGATAACAACTTGTGTTAGTCACTCCAAATTGAAGAGTTCAGAATCCAGGATAGATATGGGTGGTTATATGTTTATGTTTCTTGGGCCAACTCCAATTCTCTGAGAACAGAGGCTATGAGGGAACTGGGTATCCTGAGAGTGTTCACTTGAGAAACTACAGAGGGAAAACAGTGGCGACCATGGTTCTAGCTTATGGTCAGAAGTCACCAGCAGAAATCAAGCTTCACAGTGGCAAACCCTGGCTTCTTTCAACAGAGATTGGTAGAAACCCTAGGATATGTTGATATCAGATTCCTGTATTTCTGAAAGCACAGACCACAAAGTGACCATCAGAGAGAGTCTTGCCTTTGGGAACTTGCTAGATGGAAAGGTAACAGAGGGAGCTCCAGCCTCAAGTCACCAAACTTCATGGTGGTGGTGGGAGGTAGGGGGCAGTCTATCCTTCCAACCACATGGTCCTCCTAATGTGAGTATCCAAGCATGGCTGAGGCCTTCTAAGCCACTTCAGCCTAATCCCACTCTTTCCCCCATCCTGGCTTAAGGGAGGTATGTGTATTGGGGCAGAAGCTGGGGAAGTGGAAAGGGGACAGTGGGAGGCGAACCTGGACTCCAGTTGGCCTAAGCTACCAACAGGCCACTGGGTTAAAGAAGAGGGAGTGGAGGATGGGTGCTTCGGGGGATCTCCAGTAAACCCGGGTAGTATTCCTTACCAGGGCATTGGAAGAGAGGAAAAGAGACCAGAGGAATGGGGGAGTGGGAACAGGTCATCAGACATTGCTGATGCGCACACTAAGGGCACTGCCCTCCTTCTCAGCTTGCTCCCTTAATGACTCCTCCAACTTGAGCTTTTCAGGGTCTCCGTAGCGTACAGTGCTGTCACGGAGGCCACTAGGAGAGGCCACTTTCACAACTTGGTCAAAAAGGCTAAAGTCAGCTATGTATTTACCACTGGCTGACAGTGAGATGGCAGGTGTGAACTCGTAGCCCCAAAGGATCTCCTCTGGCAGGTAGGAAGTGCGCACCTGACAGGTGGCACTGGTGGACTCCACTGTCCCACTTAGGATCAGCACCAGCTCAAAGTCACCCTCACCACTGCGAAGAGGGAGATCTTTCAAGGGACTGGTCTCATCTACCACATGATAGAAGGTAAGGGGTAGAATAAGGAAGGGGCTGTCAGAGGCTGTGTCTACTTGGAAAGTCACATTGACCTGGTTGAGCCGGATGTTCTCCCCTTCCTTGGTTTGGTGGGTCTGAAGCAGTTTTCCTGTCACCTGGCAGCCAATGAGGAGGCTTTTGCGCATATTGGCAACTCGGATCATGAGGCAGGGCTTGCCATTGTGGGAGGCCACAACTGCATGCTGGCTGAAACGAATGGTCTCAGCCCGCTTCTTGGGCCGGGCAATCTTCACCAGGAAGGTACCTGTGATGAAGATTTCCAGGATGGTGGTGAGCACCAGCTGGGCAATAAGAAGCACAATGGCCAGTGGACATTCCTCACTGATGTAGCGGAAGCCATAGCCAATGGTGGTTTGGGATTCAAGGGAGAAGAGGAAGGCTCCAGTGAGTGTGTGCACCTGTACCACACAGGGGGTGTGGTTGGCCGGGGGGTCCAGCTCCAGCAGGTCCCCATGTGCCACAGCTACCAGATACCACACCACGCCAAAGAGGAACCATGTGCCTGCAAAGGTCGCAGAGAAGAGCAGAAGCTTGTAGCGCCACTGCATGTCAATGAAGGTTGTCCACAGGTCCTTGAGGTAGAGGAAGCGCTTGTCGGCAATGTGCTCCATTCTCACGTTGCTGCGACCATCTTTTGTCAGGACTCTCCGCCGTCGTATCCCTGGGCCCATTAGGGGCCGGCTTTCTGTCTGAGTGGTCTGACTGTAATACACCTTGGCAACTGACGTCATCTGGAGGGAGCAAGACAGCATAATGGAGGTTATCGTAGAAATCCAGCTGACTCCTAACCCTCACCCCATGGGAGGGAGGAATTAACATTCATTTGAATGTCGCTTATGTGTTCTTGTCTTACCAAATATTTATTGAGCACTTGCTATGTGCCAGGCACTGTGCAGGGGCCGAGGCGGGTGGATCGCCTGAGGTCAGGAGTTCAAGACCAGCCTGGCCAACAAGGCAAAACCCTGTCTCTACTAAAAATACAAAAATTAGCTGGGCATGGTGGCATGCGCCTGTAGTCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATCGCTTGAACCCGGGAGACAGAGGTTGCAGTGAGCCGACATCGCGCCACTGCACTCCAGCCTGGGTGACACAGCGAGACTCCGTCTCAAAAAAAAAAAAAAGTAAATAAAATAAAATAAAATAAAATGACATCATTCTGCTCTCCAAGAACTCACAGCCTAGTGAGAAAGATGCCTATTTAGTAAGCAAATAATTGCAACACAGTCTGATATTTGTAATTCTTAGCGGAAGAGAGGCAGAAAAGAAAGAGTAGTAGCTTCACATTCCTTGAAGGTGAGGGTGAGACTAATGAGAGCCTTCACCACAAAACCAGTCCTCCGAAGAGCTCTAATTTTGAAATAGGATCCATCCCCACCCTTATGAATGGCTATGAAGCAAGACAAGCTATCCTGTTGAAATCCTTCCAGGCCAATCCCCCTTAAAACACACACACACACACACACACACACACACACACACACACACAACCTTAATTTCTTCATTCTCTGCTCTACCCCCAAGCCAATACCCACTGGTGATACTAAGATACTCATCTGGTTCAGAGAATAGCAGAAACTACCCATTCTTTTACCCTTCAAGATGCTCCCTAAGCACCCAGACCATTTCATTTTTTATCATCATCATCATCATCTGTTTGCATCATCTGGGGAAATTTGGTCTGAGTTAGAGTCTAGGGCAGTGTTAGGAAGAGTACAGATGGGACTTGAACAAAAGGAAATAAGCAGTGGTGGAGGAGAAACAACATGTTAAAACTTCCTGGAAGCACTGGGACATTTTCTGAAGGACTGGCAGAAATGCCAGATTGTGGGTGGCAAAATTGTTTTGACAGAATGAAGTAGAAGAGCTAGGGGTGTATATTAACTAGCAGCTATGTCTGCACAGGCTCAAATTCAGTATTGCTATTTGTTCTGATAGCAGAAAGTGGGGCAAGCCACTGAAATAGGAGACAATTCACTTAATACAAGGTGCCTGGCACCCTTGCCCAAGCAGTAACTTGTACTTTTCCAGCACAGAAAGAATTTTAATCACTTGAGCCCTTGGACCCTGGATCTGATAGCCAGATCTTCTGTGGAGCAGGGTGATCTCTGGGGAGTTTAGCCCTTCTTGGAGAGGCTCATTACATTCTCCATTCGAAAAAGTCTGAACCATTGCATTTTATGATTCTTCACACTGCCCACCCCACCCCCCATCTCTATTTTCCCCATGGCCTTGTCCCTGGAAAACTTCAAAT
Task1_train_1917
Consider a variant on Chromosome 1 in gene KCNJ10 (potassium inwardly rectifying channel subfamily J member 10). Determine its clinical classification and disease relevance.
Pathogenic; Pendred syndrome
TCTACTTTTTAACTTGTCTGAAAATGGCCTCATGGCAGAGGAGAGTAGAGATGACACTGATTTCTTCATTTTATACCAAGTCTCAGGAATGGCTGAGGGAAGCCATGGTTATTTGATCAGAAGGTATAATTTCATTTCCTTCCAGCATTGCCTAATGAAATAGCTGGCACTTTTCAGAAGGGCACTGGGAGGTGTAACTGAGAATAGTGGCTGCCAGCCACAGAGTTCTGCTCCTGCCCAAACCTTAACAAAGCATCACCAATTCTCAGAGGCTCTGTACAGCAGTTTGGAAATCTGAGAATTTACCCATCCCTCATGGTGGGATTGTGTTAACTTTCTGGGGAATCTGTGCCCTGTGAATCTAGTTTTACTTGAGCATCCGTGTTAAGAGAGGAAGGCCCTTGCATTTTCCCTCCCTTCTCCCAAAGAGTTGGGGTTAAGGAAGAAGGATCTAGGCTGAGCAGGAAAGGAAGAAGAGAAGCCAGGTACAGTGTAATCTGGAATATTATTTTCAGACCTTTCCATGGGGCCTGGGTACTGGACTCTTTTCAAAGGAACATATTGGCTTGGGTCCTTCCATTCACAGGACACAGGGAAACAGATCTTCTCTGGGCTGCCTGGAAGATAGGTTTAAAGGTTTAGATAACAACTTGTGTTAGTCACTCCAAATTGAAGAGTTCAGAATCCAGGATAGATATGGGTGGTTATATGTTTATGTTTCTTGGGCCAACTCCAATTCTCTGAGAACAGAGGCTATGAGGGAACTGGGTATCCTGAGAGTGTTCACTTGAGAAACTACAGAGGGAAAACAGTGGCGACCATGGTTCTAGCTTATGGTCAGAAGTCACCAGCAGAAATCAAGCTTCACAGTGGCAAACCCTGGCTTCTTTCAACAGAGATTGGTAGAAACCCTAGGATATGTTGATATCAGATTCCTGTATTTCTGAAAGCACAGACCACAAAGTGACCATCAGAGAGAGTCTTGCCTTTGGGAACTTGCTAGATGGAAAGGTAACAGAGGGAGCTCCAGCCTCAAGTCACCAAACTTCATGGTGGTGGTGGGAGGTAGGGGGCAGTCTATCCTTCCAACCACATGGTCCTCCTAATGTGAGTATCCAAGCATGGCTGAGGCCTTCTAAGCCACTTCAGCCTAATCCCACTCTTTCCCCCATCCTGGCTTAAGGGAGGTATGTGTATTGGGGCAGAAGCTGGGGAAGTGGAAAGGGGACAGTGGGAGGCGAACCTGGACTCCAGTTGGCCTAAGCTACCAACAGGCCACTGGGTTAAAGAAGAGGGAGTGGAGGATGGGTGCTTCGGGGGATCTCCAGTAAACCCGGGTAGTATTCCTTACCAGGGCATTGGAAGAGAGGAAAAGAGACCAGAGGAATGGGGGAGTGGGAACAGGTCATCAGACATTGCTGATGCGCACACTAAGGGCACTGCCCTCCTTCTCAGCTTGCTCCCTTAATGACTCCTCCAACTTGAGCTTTTCAGGGTCTCCGTAGCGTACAGTGCTGTCACGGAGGCCACTAGGAGAGGCCACTTTCACAACTTGGTCAAAAAGGCTAAAGTCAGCTATGTATTTACCACTGGCTGACAGTGAGATGGCAGGTGTGAACTCGTAGCCCCAAAGGATCTCCTCTGGCAGGTAGGAAGTGCGCACCTGACAGGTGGCACTGGTGGACTCCACTGTCCCACTTAGGATCAGCACCAGCTCAAAGTCACCCTCACCACTGCGAAGAGGGAGATCTTTCAAGGGACTGGTCTCATCTACCACATGATAGAAGGTAAGGGGTAGAATAAGGAAGGGGCTGTCAGAGGCTGTGTCTACTTGGAAAGTCACATTGACCTGGTTGAGCCGGATGTTCTCCCCTTCCTTGGTTTGGTGGGTCTGAAGCAGTTTTCCTGTCACCTGGCAGCCAATGAGGAGGCTTTTGCGCATATTGGCAACTCGGATCATGAGGCAGGGCTTGCCATTGTGGGAGGCCACAACTGCATGCTGGCTGAAACGAATGGTCTCAGCCCGCTTCTTGGGCCGGGCAATCTTCGCCAGGAAGGTACCTGTGATGAAGATTTCCAGGATGGTGGTGAGCACCAGCTGGGCAATAAGAAGCACAATGGCCAGTGGACATTCCTCACTGATGTAGCGGAAGCCATAGCCAATGGTGGTTTGGGATTCAAGGGAGAAGAGGAAGGCTCCAGTGAGTGTGTGCACCTGTACCACACAGGGGGTGTGGTTGGCCGGGGGGTCCAGCTCCAGCAGGTCCCCATGTGCCACAGCTACCAGATACCACACCACGCCAAAGAGGAACCATGTGCCTGCAAAGGTCGCAGAGAAGAGCAGAAGCTTGTAGCGCCACTGCATGTCAATGAAGGTTGTCCACAGGTCCTTGAGGTAGAGGAAGCGCTTGTCGGCAATGTGCTCCATTCTCACGTTGCTGCGACCATCTTTTGTCAGGACTCTCCGCCGTCGTATCCCTGGGCCCATTAGGGGCCGGCTTTCTGTCTGAGTGGTCTGACTGTAATACACCTTGGCAACTGACGTCATCTGGAGGGAGCAAGACAGCATAATGGAGGTTATCGTAGAAATCCAGCTGACTCCTAACCCTCACCCCATGGGAGGGAGGAATTAACATTCATTTGAATGTCGCTTATGTGTTCTTGTCTTACCAAATATTTATTGAGCACTTGCTATGTGCCAGGCACTGTGCAGGGGCCGAGGCGGGTGGATCGCCTGAGGTCAGGAGTTCAAGACCAGCCTGGCCAACAAGGCAAAACCCTGTCTCTACTAAAAATACAAAAATTAGCTGGGCATGGTGGCATGCGCCTGTAGTCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATCGCTTGAACCCGGGAGACAGAGGTTGCAGTGAGCCGACATCGCGCCACTGCACTCCAGCCTGGGTGACACAGCGAGACTCCGTCTCAAAAAAAAAAAAAAGTAAATAAAATAAAATAAAATAAAATGACATCATTCTGCTCTCCAAGAACTCACAGCCTAGTGAGAAAGATGCCTATTTAGTAAGCAAATAATTGCAACACAGTCTGATATTTGTAATTCTTAGCGGAAGAGAGGCAGAAAAGAAAGAGTAGTAGCTTCACATTCCTTGAAGGTGAGGGTGAGACTAATGAGAGCCTTCACCACAAAACCAGTCCTCCGAAGAGCTCTAATTTTGAAATAGGATCCATCCCCACCCTTATGAATGGCTATGAAGCAAGACAAGCTATCCTGTTGAAATCCTTCCAGGCCAATCCCCCTTAAAACACACACACACACACACACACACACACACACACACACACACAACCTTAATTTCTTCATTCTCTGCTCTACCCCCAAGCCAATACCCACTGGTGATACTAAGATACTCATCTGGTTCAGAGAATAGCAGAAACTACCCATTCTTTTACCCTTCAAGATGCTCCCTAAGCACCCAGACCATTTCATTTTTTATCATCATCATCATCATCTGTTTGCATCATCTGGGGAAATTTGGTCTGAGTTAGAGTCTAGGGCAGTGTTAGGAAGAGTACAGATGGGACTTGAACAAAAGGAAATAAGCAGTGGTGGAGGAGAAACAACATGTTAAAACTTCCTGGAAGCACTGGGACATTTTCTGAAGGACTGGCAGAAATGCCAGATTGTGGGTGGCAAAATTGTTTTGACAGAATGAAGTAGAAGAGCTAGGGGTGTATATTAACTAGCAGCTATGTCTGCACAGGCTCAAATTCAGTATTGCTATTTGTTCTGATAGCAGAAAGTGGGGCAAGCCACTGAAATAGGAGACAATTCACTTAATACAAGGTGCCTGGCACCCTTGCCCAAGCAGTAACTTGTACTTTTCCAGCACAGAAAGAATTTTAATCACTTGAGCCCTTGGACCCTGGATCTGATAGCCAGATCTTCTGTGGAGCAGGGTGATCTCTGGGGAGTTTAGCCCTTCTTGGAGAGGCTCATTACATTCTCCATTCGAAAAAGTCTGAACCATTGCATTTTATGATTCTTCACACTGCCCACCCCACCCCCCATCTCTATTTTCCCCATGGCCTTGTCCCTGGAAAACTTCAAAT
TCTACTTTTTAACTTGTCTGAAAATGGCCTCATGGCAGAGGAGAGTAGAGATGACACTGATTTCTTCATTTTATACCAAGTCTCAGGAATGGCTGAGGGAAGCCATGGTTATTTGATCAGAAGGTATAATTTCATTTCCTTCCAGCATTGCCTAATGAAATAGCTGGCACTTTTCAGAAGGGCACTGGGAGGTGTAACTGAGAATAGTGGCTGCCAGCCACAGAGTTCTGCTCCTGCCCAAACCTTAACAAAGCATCACCAATTCTCAGAGGCTCTGTACAGCAGTTTGGAAATCTGAGAATTTACCCATCCCTCATGGTGGGATTGTGTTAACTTTCTGGGGAATCTGTGCCCTGTGAATCTAGTTTTACTTGAGCATCCGTGTTAAGAGAGGAAGGCCCTTGCATTTTCCCTCCCTTCTCCCAAAGAGTTGGGGTTAAGGAAGAAGGATCTAGGCTGAGCAGGAAAGGAAGAAGAGAAGCCAGGTACAGTGTAATCTGGAATATTATTTTCAGACCTTTCCATGGGGCCTGGGTACTGGACTCTTTTCAAAGGAACATATTGGCTTGGGTCCTTCCATTCACAGGACACAGGGAAACAGATCTTCTCTGGGCTGCCTGGAAGATAGGTTTAAAGGTTTAGATAACAACTTGTGTTAGTCACTCCAAATTGAAGAGTTCAGAATCCAGGATAGATATGGGTGGTTATATGTTTATGTTTCTTGGGCCAACTCCAATTCTCTGAGAACAGAGGCTATGAGGGAACTGGGTATCCTGAGAGTGTTCACTTGAGAAACTACAGAGGGAAAACAGTGGCGACCATGGTTCTAGCTTATGGTCAGAAGTCACCAGCAGAAATCAAGCTTCACAGTGGCAAACCCTGGCTTCTTTCAACAGAGATTGGTAGAAACCCTAGGATATGTTGATATCAGATTCCTGTATTTCTGAAAGCACAGACCACAAAGTGACCATCAGAGAGAGTCTTGCCTTTGGGAACTTGCTAGATGGAAAGGTAACAGAGGGAGCTCCAGCCTCAAGTCACCAAACTTCATGGTGGTGGTGGGAGGTAGGGGGCAGTCTATCCTTCCAACCACATGGTCCTCCTAATGTGAGTATCCAAGCATGGCTGAGGCCTTCTAAGCCACTTCAGCCTAATCCCACTCTTTCCCCCATCCTGGCTTAAGGGAGGTATGTGTATTGGGGCAGAAGCTGGGGAAGTGGAAAGGGGACAGTGGGAGGCGAACCTGGACTCCAGTTGGCCTAAGCTACCAACAGGCCACTGGGTTAAAGAAGAGGGAGTGGAGGATGGGTGCTTCGGGGGATCTCCAGTAAACCCGGGTAGTATTCCTTACCAGGGCATTGGAAGAGAGGAAAAGAGACCAGAGGAATGGGGGAGTGGGAACAGGTCATCAGACATTGCTGATGCGCACACTAAGGGCACTGCCCTCCTTCTCAGCTTGCTCCCTTAATGACTCCTCCAACTTGAGCTTTTCAGGGTCTCCGTAGCGTACAGTGCTGTCACGGAGGCCACTAGGAGAGGCCACTTTCACAACTTGGTCAAAAAGGCTAAAGTCAGCTATGTATTTACCACTGGCTGACAGTGAGATGGCAGGTGTGAACTCGTAGCCCCAAAGGATCTCCTCTGGCAGGTAGGAAGTGCGCACCTGACAGGTGGCACTGGTGGACTCCACTGTCCCACTTAGGATCAGCACCAGCTCAAAGTCACCCTCACCACTGCGAAGAGGGAGATCTTTCAAGGGACTGGTCTCATCTACCACATGATAGAAGGTAAGGGGTAGAATAAGGAAGGGGCTGTCAGAGGCTGTGTCTACTTGGAAAGTCACATTGACCTGGTTGAGCCGGATGTTCTCCCCTTCCTTGGTTTGGTGGGTCTGAAGCAGTTTTCCTGTCACCTGGCAGCCAATGAGGAGGCTTTTGCGCATATTGGCAACTCGGATCATGAGGCAGGGCTTGCCATTGTGGGAGGCCACAACTGCATGCTGGCTGAAACGAATGGTCTCAGCCCGCTTCTTGGGCCGGGCAATCTTCACCAGGAAGGTACCTGTGATGAAGATTTCCAGGATGGTGGTGAGCACCAGCTGGGCAATAAGAAGCACAATGGCCAGTGGACATTCCTCACTGATGTAGCGGAAGCCATAGCCAATGGTGGTTTGGGATTCAAGGGAGAAGAGGAAGGCTCCAGTGAGTGTGTGCACCTGTACCACACAGGGGGTGTGGTTGGCCGGGGGGTCCAGCTCCAGCAGGTCCCCATGTGCCACAGCTACCAGATACCACACCACGCCAAAGAGGAACCATGTGCCTGCAAAGGTCGCAGAGAAGAGCAGAAGCTTGTAGCGCCACTGCATGTCAATGAAGGTTGTCCACAGGTCCTTGAGGTAGAGGAAGCGCTTGTCGGCAATGTGCTCCATTCTCACGTTGCTGCGACCATCTTTTGTCAGGACTCTCCGCCGTCGTATCCCTGGGCCCATTAGGGGCCGGCTTTCTGTCTGAGTGGTCTGACTGTAATACACCTTGGCAACTGACGTCATCTGGAGGGAGCAAGACAGCATAATGGAGGTTATCGTAGAAATCCAGCTGACTCCTAACCCTCACCCCATGGGAGGGAGGAATTAACATTCATTTGAATGTCGCTTATGTGTTCTTGTCTTACCAAATATTTATTGAGCACTTGCTATGTGCCAGGCACTGTGCAGGGGCCGAGGCGGGTGGATCGCCTGAGGTCAGGAGTTCAAGACCAGCCTGGCCAACAAGGCAAAACCCTGTCTCTACTAAAAATACAAAAATTAGCTGGGCATGGTGGCATGCGCCTGTAGTCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATCGCTTGAACCCGGGAGACAGAGGTTGCAGTGAGCCGACATCGCGCCACTGCACTCCAGCCTGGGTGACACAGCGAGACTCCGTCTCAAAAAAAAAAAAAAGTAAATAAAATAAAATAAAATAAAATGACATCATTCTGCTCTCCAAGAACTCACAGCCTAGTGAGAAAGATGCCTATTTAGTAAGCAAATAATTGCAACACAGTCTGATATTTGTAATTCTTAGCGGAAGAGAGGCAGAAAAGAAAGAGTAGTAGCTTCACATTCCTTGAAGGTGAGGGTGAGACTAATGAGAGCCTTCACCACAAAACCAGTCCTCCGAAGAGCTCTAATTTTGAAATAGGATCCATCCCCACCCTTATGAATGGCTATGAAGCAAGACAAGCTATCCTGTTGAAATCCTTCCAGGCCAATCCCCCTTAAAACACACACACACACACACACACACACACACACACACACACACAACCTTAATTTCTTCATTCTCTGCTCTACCCCCAAGCCAATACCCACTGGTGATACTAAGATACTCATCTGGTTCAGAGAATAGCAGAAACTACCCATTCTTTTACCCTTCAAGATGCTCCCTAAGCACCCAGACCATTTCATTTTTTATCATCATCATCATCATCTGTTTGCATCATCTGGGGAAATTTGGTCTGAGTTAGAGTCTAGGGCAGTGTTAGGAAGAGTACAGATGGGACTTGAACAAAAGGAAATAAGCAGTGGTGGAGGAGAAACAACATGTTAAAACTTCCTGGAAGCACTGGGACATTTTCTGAAGGACTGGCAGAAATGCCAGATTGTGGGTGGCAAAATTGTTTTGACAGAATGAAGTAGAAGAGCTAGGGGTGTATATTAACTAGCAGCTATGTCTGCACAGGCTCAAATTCAGTATTGCTATTTGTTCTGATAGCAGAAAGTGGGGCAAGCCACTGAAATAGGAGACAATTCACTTAATACAAGGTGCCTGGCACCCTTGCCCAAGCAGTAACTTGTACTTTTCCAGCACAGAAAGAATTTTAATCACTTGAGCCCTTGGACCCTGGATCTGATAGCCAGATCTTCTGTGGAGCAGGGTGATCTCTGGGGAGTTTAGCCCTTCTTGGAGAGGCTCATTACATTCTCCATTCGAAAAAGTCTGAACCATTGCATTTTATGATTCTTCACACTGCCCACCCCACCCCCCATCTCTATTTTCCCCATGGCCTTGTCCCTGGAAAACTTCAAAT
Task1_train_1918
Assess the clinical impact of this variant on gene KCNJ10 (potassium inwardly rectifying channel subfamily J member 10), found on Chromosome 1. State whether it’s pathogenic or benign, and the disease if applicable.
Pathogenic; Autosomal recessive nonsyndromic hearing loss 4
TCTACTTTTTAACTTGTCTGAAAATGGCCTCATGGCAGAGGAGAGTAGAGATGACACTGATTTCTTCATTTTATACCAAGTCTCAGGAATGGCTGAGGGAAGCCATGGTTATTTGATCAGAAGGTATAATTTCATTTCCTTCCAGCATTGCCTAATGAAATAGCTGGCACTTTTCAGAAGGGCACTGGGAGGTGTAACTGAGAATAGTGGCTGCCAGCCACAGAGTTCTGCTCCTGCCCAAACCTTAACAAAGCATCACCAATTCTCAGAGGCTCTGTACAGCAGTTTGGAAATCTGAGAATTTACCCATCCCTCATGGTGGGATTGTGTTAACTTTCTGGGGAATCTGTGCCCTGTGAATCTAGTTTTACTTGAGCATCCGTGTTAAGAGAGGAAGGCCCTTGCATTTTCCCTCCCTTCTCCCAAAGAGTTGGGGTTAAGGAAGAAGGATCTAGGCTGAGCAGGAAAGGAAGAAGAGAAGCCAGGTACAGTGTAATCTGGAATATTATTTTCAGACCTTTCCATGGGGCCTGGGTACTGGACTCTTTTCAAAGGAACATATTGGCTTGGGTCCTTCCATTCACAGGACACAGGGAAACAGATCTTCTCTGGGCTGCCTGGAAGATAGGTTTAAAGGTTTAGATAACAACTTGTGTTAGTCACTCCAAATTGAAGAGTTCAGAATCCAGGATAGATATGGGTGGTTATATGTTTATGTTTCTTGGGCCAACTCCAATTCTCTGAGAACAGAGGCTATGAGGGAACTGGGTATCCTGAGAGTGTTCACTTGAGAAACTACAGAGGGAAAACAGTGGCGACCATGGTTCTAGCTTATGGTCAGAAGTCACCAGCAGAAATCAAGCTTCACAGTGGCAAACCCTGGCTTCTTTCAACAGAGATTGGTAGAAACCCTAGGATATGTTGATATCAGATTCCTGTATTTCTGAAAGCACAGACCACAAAGTGACCATCAGAGAGAGTCTTGCCTTTGGGAACTTGCTAGATGGAAAGGTAACAGAGGGAGCTCCAGCCTCAAGTCACCAAACTTCATGGTGGTGGTGGGAGGTAGGGGGCAGTCTATCCTTCCAACCACATGGTCCTCCTAATGTGAGTATCCAAGCATGGCTGAGGCCTTCTAAGCCACTTCAGCCTAATCCCACTCTTTCCCCCATCCTGGCTTAAGGGAGGTATGTGTATTGGGGCAGAAGCTGGGGAAGTGGAAAGGGGACAGTGGGAGGCGAACCTGGACTCCAGTTGGCCTAAGCTACCAACAGGCCACTGGGTTAAAGAAGAGGGAGTGGAGGATGGGTGCTTCGGGGGATCTCCAGTAAACCCGGGTAGTATTCCTTACCAGGGCATTGGAAGAGAGGAAAAGAGACCAGAGGAATGGGGGAGTGGGAACAGGTCATCAGACATTGCTGATGCGCACACTAAGGGCACTGCCCTCCTTCTCAGCTTGCTCCCTTAATGACTCCTCCAACTTGAGCTTTTCAGGGTCTCCGTAGCGTACAGTGCTGTCACGGAGGCCACTAGGAGAGGCCACTTTCACAACTTGGTCAAAAAGGCTAAAGTCAGCTATGTATTTACCACTGGCTGACAGTGAGATGGCAGGTGTGAACTCGTAGCCCCAAAGGATCTCCTCTGGCAGGTAGGAAGTGCGCACCTGACAGGTGGCACTGGTGGACTCCACTGTCCCACTTAGGATCAGCACCAGCTCAAAGTCACCCTCACCACTGCGAAGAGGGAGATCTTTCAAGGGACTGGTCTCATCTACCACATGATAGAAGGTAAGGGGTAGAATAAGGAAGGGGCTGTCAGAGGCTGTGTCTACTTGGAAAGTCACATTGACCTGGTTGAGCCGGATGTTCTCCCCTTCCTTGGTTTGGTGGGTCTGAAGCAGTTTTCCTGTCACCTGGCAGCCAATGAGGAGGCTTTTGCGCATATTGGCAACTCGGATCATGAGGCAGGGCTTGCCATTGTGGGAGGCCACAACTGCATGCTGGCTGAAACGAATGGTCTCAGCCCGCTTCTTGGGCCGGGCAATCTTCGCCAGGAAGGTACCTGTGATGAAGATTTCCAGGATGGTGGTGAGCACCAGCTGGGCAATAAGAAGCACAATGGCCAGTGGACATTCCTCACTGATGTAGCGGAAGCCATAGCCAATGGTGGTTTGGGATTCAAGGGAGAAGAGGAAGGCTCCAGTGAGTGTGTGCACCTGTACCACACAGGGGGTGTGGTTGGCCGGGGGGTCCAGCTCCAGCAGGTCCCCATGTGCCACAGCTACCAGATACCACACCACGCCAAAGAGGAACCATGTGCCTGCAAAGGTCGCAGAGAAGAGCAGAAGCTTGTAGCGCCACTGCATGTCAATGAAGGTTGTCCACAGGTCCTTGAGGTAGAGGAAGCGCTTGTCGGCAATGTGCTCCATTCTCACGTTGCTGCGACCATCTTTTGTCAGGACTCTCCGCCGTCGTATCCCTGGGCCCATTAGGGGCCGGCTTTCTGTCTGAGTGGTCTGACTGTAATACACCTTGGCAACTGACGTCATCTGGAGGGAGCAAGACAGCATAATGGAGGTTATCGTAGAAATCCAGCTGACTCCTAACCCTCACCCCATGGGAGGGAGGAATTAACATTCATTTGAATGTCGCTTATGTGTTCTTGTCTTACCAAATATTTATTGAGCACTTGCTATGTGCCAGGCACTGTGCAGGGGCCGAGGCGGGTGGATCGCCTGAGGTCAGGAGTTCAAGACCAGCCTGGCCAACAAGGCAAAACCCTGTCTCTACTAAAAATACAAAAATTAGCTGGGCATGGTGGCATGCGCCTGTAGTCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATCGCTTGAACCCGGGAGACAGAGGTTGCAGTGAGCCGACATCGCGCCACTGCACTCCAGCCTGGGTGACACAGCGAGACTCCGTCTCAAAAAAAAAAAAAAGTAAATAAAATAAAATAAAATAAAATGACATCATTCTGCTCTCCAAGAACTCACAGCCTAGTGAGAAAGATGCCTATTTAGTAAGCAAATAATTGCAACACAGTCTGATATTTGTAATTCTTAGCGGAAGAGAGGCAGAAAAGAAAGAGTAGTAGCTTCACATTCCTTGAAGGTGAGGGTGAGACTAATGAGAGCCTTCACCACAAAACCAGTCCTCCGAAGAGCTCTAATTTTGAAATAGGATCCATCCCCACCCTTATGAATGGCTATGAAGCAAGACAAGCTATCCTGTTGAAATCCTTCCAGGCCAATCCCCCTTAAAACACACACACACACACACACACACACACACACACACACACACAACCTTAATTTCTTCATTCTCTGCTCTACCCCCAAGCCAATACCCACTGGTGATACTAAGATACTCATCTGGTTCAGAGAATAGCAGAAACTACCCATTCTTTTACCCTTCAAGATGCTCCCTAAGCACCCAGACCATTTCATTTTTTATCATCATCATCATCATCTGTTTGCATCATCTGGGGAAATTTGGTCTGAGTTAGAGTCTAGGGCAGTGTTAGGAAGAGTACAGATGGGACTTGAACAAAAGGAAATAAGCAGTGGTGGAGGAGAAACAACATGTTAAAACTTCCTGGAAGCACTGGGACATTTTCTGAAGGACTGGCAGAAATGCCAGATTGTGGGTGGCAAAATTGTTTTGACAGAATGAAGTAGAAGAGCTAGGGGTGTATATTAACTAGCAGCTATGTCTGCACAGGCTCAAATTCAGTATTGCTATTTGTTCTGATAGCAGAAAGTGGGGCAAGCCACTGAAATAGGAGACAATTCACTTAATACAAGGTGCCTGGCACCCTTGCCCAAGCAGTAACTTGTACTTTTCCAGCACAGAAAGAATTTTAATCACTTGAGCCCTTGGACCCTGGATCTGATAGCCAGATCTTCTGTGGAGCAGGGTGATCTCTGGGGAGTTTAGCCCTTCTTGGAGAGGCTCATTACATTCTCCATTCGAAAAAGTCTGAACCATTGCATTTTATGATTCTTCACACTGCCCACCCCACCCCCCATCTCTATTTTCCCCATGGCCTTGTCCCTGGAAAACTTCAAAT
TCTACTTTTTAACTTGTCTGAAAATGGCCTCATGGCAGAGGAGAGTAGAGATGACACTGATTTCTTCATTTTATACCAAGTCTCAGGAATGGCTGAGGGAAGCCATGGTTATTTGATCAGAAGGTATAATTTCATTTCCTTCCAGCATTGCCTAATGAAATAGCTGGCACTTTTCAGAAGGGCACTGGGAGGTGTAACTGAGAATAGTGGCTGCCAGCCACAGAGTTCTGCTCCTGCCCAAACCTTAACAAAGCATCACCAATTCTCAGAGGCTCTGTACAGCAGTTTGGAAATCTGAGAATTTACCCATCCCTCATGGTGGGATTGTGTTAACTTTCTGGGGAATCTGTGCCCTGTGAATCTAGTTTTACTTGAGCATCCGTGTTAAGAGAGGAAGGCCCTTGCATTTTCCCTCCCTTCTCCCAAAGAGTTGGGGTTAAGGAAGAAGGATCTAGGCTGAGCAGGAAAGGAAGAAGAGAAGCCAGGTACAGTGTAATCTGGAATATTATTTTCAGACCTTTCCATGGGGCCTGGGTACTGGACTCTTTTCAAAGGAACATATTGGCTTGGGTCCTTCCATTCACAGGACACAGGGAAACAGATCTTCTCTGGGCTGCCTGGAAGATAGGTTTAAAGGTTTAGATAACAACTTGTGTTAGTCACTCCAAATTGAAGAGTTCAGAATCCAGGATAGATATGGGTGGTTATATGTTTATGTTTCTTGGGCCAACTCCAATTCTCTGAGAACAGAGGCTATGAGGGAACTGGGTATCCTGAGAGTGTTCACTTGAGAAACTACAGAGGGAAAACAGTGGCGACCATGGTTCTAGCTTATGGTCAGAAGTCACCAGCAGAAATCAAGCTTCACAGTGGCAAACCCTGGCTTCTTTCAACAGAGATTGGTAGAAACCCTAGGATATGTTGATATCAGATTCCTGTATTTCTGAAAGCACAGACCACAAAGTGACCATCAGAGAGAGTCTTGCCTTTGGGAACTTGCTAGATGGAAAGGTAACAGAGGGAGCTCCAGCCTCAAGTCACCAAACTTCATGGTGGTGGTGGGAGGTAGGGGGCAGTCTATCCTTCCAACCACATGGTCCTCCTAATGTGAGTATCCAAGCATGGCTGAGGCCTTCTAAGCCACTTCAGCCTAATCCCACTCTTTCCCCCATCCTGGCTTAAGGGAGGTATGTGTATTGGGGCAGAAGCTGGGGAAGTGGAAAGGGGACAGTGGGAGGCGAACCTGGACTCCAGTTGGCCTAAGCTACCAACAGGCCACTGGGTTAAAGAAGAGGGAGTGGAGGATGGGTGCTTCGGGGGATCTCCAGTAAACCCGGGTAGTATTCCTTACCAGGGCATTGGAAGAGAGGAAAAGAGACCAGAGGAATGGGGGAGTGGGAACAGGTCATCAGACATTGCTGATGCGCACACTAAGGGCACTGCCCTCCTTCTCAGCTTGCTCCCTTAATGACTCCTCCAACTTGAGCTTTTCAGGGTCTCCGTAGCGTACAGTGCTGTCACGGAGGCCACTAGGAGAGGCCACTTTCACAACTTGGTCAAAAAGGCTAAAGTCAGCTATGTATTTACCACTGGCTGACAGTGAGATGGCAGGTGTGAACTCGTAGCCCCAAAGGATCTCCTCTGGCAGGTAGGAAGTGCGCACCTGACAGGTGGCACTGGTGGACTCCACTGTCCCACTTAGGATCAGCACCAGCTCAAAGTCACCCTCACCACTGCGAAGAGGGAGATCTTTCAAGGGACTGGTCTCATCTACCACATGATAGAAGGTAAGGGGTAGAATAAGGAAGGGGCTGTCAGAGGCTGTGTCTACTTGGAAAGTCACATTGACCTGGTTGAGCCGGATGTTCTCCCCTTCCTTGGTTTGGTGGGTCTGAAGCAGTTTTCCTGTCACCTGGCAGCCAATGAGGAGGCTTTTGCGCATATTGGCAACTCGGATCATGAGGCAGGGCTTGCCATTGTGGGAGGCCACAACTGCATGCTGGCTGAAACGAATGGTCTCAGCCCGCTTCTTGGGCCGGGCAATCTTCACCAGGAAGGTACCTGTGATGAAGATTTCCAGGATGGTGGTGAGCACCAGCTGGGCAATAAGAAGCACAATGGCCAGTGGACATTCCTCACTGATGTAGCGGAAGCCATAGCCAATGGTGGTTTGGGATTCAAGGGAGAAGAGGAAGGCTCCAGTGAGTGTGTGCACCTGTACCACACAGGGGGTGTGGTTGGCCGGGGGGTCCAGCTCCAGCAGGTCCCCATGTGCCACAGCTACCAGATACCACACCACGCCAAAGAGGAACCATGTGCCTGCAAAGGTCGCAGAGAAGAGCAGAAGCTTGTAGCGCCACTGCATGTCAATGAAGGTTGTCCACAGGTCCTTGAGGTAGAGGAAGCGCTTGTCGGCAATGTGCTCCATTCTCACGTTGCTGCGACCATCTTTTGTCAGGACTCTCCGCCGTCGTATCCCTGGGCCCATTAGGGGCCGGCTTTCTGTCTGAGTGGTCTGACTGTAATACACCTTGGCAACTGACGTCATCTGGAGGGAGCAAGACAGCATAATGGAGGTTATCGTAGAAATCCAGCTGACTCCTAACCCTCACCCCATGGGAGGGAGGAATTAACATTCATTTGAATGTCGCTTATGTGTTCTTGTCTTACCAAATATTTATTGAGCACTTGCTATGTGCCAGGCACTGTGCAGGGGCCGAGGCGGGTGGATCGCCTGAGGTCAGGAGTTCAAGACCAGCCTGGCCAACAAGGCAAAACCCTGTCTCTACTAAAAATACAAAAATTAGCTGGGCATGGTGGCATGCGCCTGTAGTCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATCGCTTGAACCCGGGAGACAGAGGTTGCAGTGAGCCGACATCGCGCCACTGCACTCCAGCCTGGGTGACACAGCGAGACTCCGTCTCAAAAAAAAAAAAAAGTAAATAAAATAAAATAAAATAAAATGACATCATTCTGCTCTCCAAGAACTCACAGCCTAGTGAGAAAGATGCCTATTTAGTAAGCAAATAATTGCAACACAGTCTGATATTTGTAATTCTTAGCGGAAGAGAGGCAGAAAAGAAAGAGTAGTAGCTTCACATTCCTTGAAGGTGAGGGTGAGACTAATGAGAGCCTTCACCACAAAACCAGTCCTCCGAAGAGCTCTAATTTTGAAATAGGATCCATCCCCACCCTTATGAATGGCTATGAAGCAAGACAAGCTATCCTGTTGAAATCCTTCCAGGCCAATCCCCCTTAAAACACACACACACACACACACACACACACACACACACACACACAACCTTAATTTCTTCATTCTCTGCTCTACCCCCAAGCCAATACCCACTGGTGATACTAAGATACTCATCTGGTTCAGAGAATAGCAGAAACTACCCATTCTTTTACCCTTCAAGATGCTCCCTAAGCACCCAGACCATTTCATTTTTTATCATCATCATCATCATCTGTTTGCATCATCTGGGGAAATTTGGTCTGAGTTAGAGTCTAGGGCAGTGTTAGGAAGAGTACAGATGGGACTTGAACAAAAGGAAATAAGCAGTGGTGGAGGAGAAACAACATGTTAAAACTTCCTGGAAGCACTGGGACATTTTCTGAAGGACTGGCAGAAATGCCAGATTGTGGGTGGCAAAATTGTTTTGACAGAATGAAGTAGAAGAGCTAGGGGTGTATATTAACTAGCAGCTATGTCTGCACAGGCTCAAATTCAGTATTGCTATTTGTTCTGATAGCAGAAAGTGGGGCAAGCCACTGAAATAGGAGACAATTCACTTAATACAAGGTGCCTGGCACCCTTGCCCAAGCAGTAACTTGTACTTTTCCAGCACAGAAAGAATTTTAATCACTTGAGCCCTTGGACCCTGGATCTGATAGCCAGATCTTCTGTGGAGCAGGGTGATCTCTGGGGAGTTTAGCCCTTCTTGGAGAGGCTCATTACATTCTCCATTCGAAAAAGTCTGAACCATTGCATTTTATGATTCTTCACACTGCCCACCCCACCCCCCATCTCTATTTTCCCCATGGCCTTGTCCCTGGAAAACTTCAAAT
Task1_train_1919
The gene KCNJ10 (potassium inwardly rectifying channel subfamily J member 10) is located on Chromosome 1, where a mutation has occurred. What is the medical relevance of this mutation?
Pathogenic; EAST syndrome
TAACTTGTCTGAAAATGGCCTCATGGCAGAGGAGAGTAGAGATGACACTGATTTCTTCATTTTATACCAAGTCTCAGGAATGGCTGAGGGAAGCCATGGTTATTTGATCAGAAGGTATAATTTCATTTCCTTCCAGCATTGCCTAATGAAATAGCTGGCACTTTTCAGAAGGGCACTGGGAGGTGTAACTGAGAATAGTGGCTGCCAGCCACAGAGTTCTGCTCCTGCCCAAACCTTAACAAAGCATCACCAATTCTCAGAGGCTCTGTACAGCAGTTTGGAAATCTGAGAATTTACCCATCCCTCATGGTGGGATTGTGTTAACTTTCTGGGGAATCTGTGCCCTGTGAATCTAGTTTTACTTGAGCATCCGTGTTAAGAGAGGAAGGCCCTTGCATTTTCCCTCCCTTCTCCCAAAGAGTTGGGGTTAAGGAAGAAGGATCTAGGCTGAGCAGGAAAGGAAGAAGAGAAGCCAGGTACAGTGTAATCTGGAATATTATTTTCAGACCTTTCCATGGGGCCTGGGTACTGGACTCTTTTCAAAGGAACATATTGGCTTGGGTCCTTCCATTCACAGGACACAGGGAAACAGATCTTCTCTGGGCTGCCTGGAAGATAGGTTTAAAGGTTTAGATAACAACTTGTGTTAGTCACTCCAAATTGAAGAGTTCAGAATCCAGGATAGATATGGGTGGTTATATGTTTATGTTTCTTGGGCCAACTCCAATTCTCTGAGAACAGAGGCTATGAGGGAACTGGGTATCCTGAGAGTGTTCACTTGAGAAACTACAGAGGGAAAACAGTGGCGACCATGGTTCTAGCTTATGGTCAGAAGTCACCAGCAGAAATCAAGCTTCACAGTGGCAAACCCTGGCTTCTTTCAACAGAGATTGGTAGAAACCCTAGGATATGTTGATATCAGATTCCTGTATTTCTGAAAGCACAGACCACAAAGTGACCATCAGAGAGAGTCTTGCCTTTGGGAACTTGCTAGATGGAAAGGTAACAGAGGGAGCTCCAGCCTCAAGTCACCAAACTTCATGGTGGTGGTGGGAGGTAGGGGGCAGTCTATCCTTCCAACCACATGGTCCTCCTAATGTGAGTATCCAAGCATGGCTGAGGCCTTCTAAGCCACTTCAGCCTAATCCCACTCTTTCCCCCATCCTGGCTTAAGGGAGGTATGTGTATTGGGGCAGAAGCTGGGGAAGTGGAAAGGGGACAGTGGGAGGCGAACCTGGACTCCAGTTGGCCTAAGCTACCAACAGGCCACTGGGTTAAAGAAGAGGGAGTGGAGGATGGGTGCTTCGGGGGATCTCCAGTAAACCCGGGTAGTATTCCTTACCAGGGCATTGGAAGAGAGGAAAAGAGACCAGAGGAATGGGGGAGTGGGAACAGGTCATCAGACATTGCTGATGCGCACACTAAGGGCACTGCCCTCCTTCTCAGCTTGCTCCCTTAATGACTCCTCCAACTTGAGCTTTTCAGGGTCTCCGTAGCGTACAGTGCTGTCACGGAGGCCACTAGGAGAGGCCACTTTCACAACTTGGTCAAAAAGGCTAAAGTCAGCTATGTATTTACCACTGGCTGACAGTGAGATGGCAGGTGTGAACTCGTAGCCCCAAAGGATCTCCTCTGGCAGGTAGGAAGTGCGCACCTGACAGGTGGCACTGGTGGACTCCACTGTCCCACTTAGGATCAGCACCAGCTCAAAGTCACCCTCACCACTGCGAAGAGGGAGATCTTTCAAGGGACTGGTCTCATCTACCACATGATAGAAGGTAAGGGGTAGAATAAGGAAGGGGCTGTCAGAGGCTGTGTCTACTTGGAAAGTCACATTGACCTGGTTGAGCCGGATGTTCTCCCCTTCCTTGGTTTGGTGGGTCTGAAGCAGTTTTCCTGTCACCTGGCAGCCAATGAGGAGGCTTTTGCGCATATTGGCAACTCGGATCATGAGGCAGGGCTTGCCATTGTGGGAGGCCACAACTGCATGCTGGCTGAAACGAATGGTCTCAGCCCGCTTCTTGGGCCGGGCAATCTTCGCCAGGAAGGTACCTGTGATGAAGATTTCCAGGATGGTGGTGAGCACCAGCTGGGCAATAAGAAGCACAATGGCCAGTGGACATTCCTCACTGATGTAGCGGAAGCCATAGCCAATGGTGGTTTGGGATTCAAGGGAGAAGAGGAAGGCTCCAGTGAGTGTGTGCACCTGTACCACACAGGGGGTGTGGTTGGCCGGGGGGTCCAGCTCCAGCAGGTCCCCATGTGCCACAGCTACCAGATACCACACCACGCCAAAGAGGAACCATGTGCCTGCAAAGGTCGCAGAGAAGAGCAGAAGCTTGTAGCGCCACTGCATGTCAATGAAGGTTGTCCACAGGTCCTTGAGGTAGAGGAAGCGCTTGTCGGCAATGTGCTCCATTCTCACGTTGCTGCGACCATCTTTTGTCAGGACTCTCCGCCGTCGTATCCCTGGGCCCATTAGGGGCCGGCTTTCTGTCTGAGTGGTCTGACTGTAATACACCTTGGCAACTGACGTCATCTGGAGGGAGCAAGACAGCATAATGGAGGTTATCGTAGAAATCCAGCTGACTCCTAACCCTCACCCCATGGGAGGGAGGAATTAACATTCATTTGAATGTCGCTTATGTGTTCTTGTCTTACCAAATATTTATTGAGCACTTGCTATGTGCCAGGCACTGTGCAGGGGCCGAGGCGGGTGGATCGCCTGAGGTCAGGAGTTCAAGACCAGCCTGGCCAACAAGGCAAAACCCTGTCTCTACTAAAAATACAAAAATTAGCTGGGCATGGTGGCATGCGCCTGTAGTCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATCGCTTGAACCCGGGAGACAGAGGTTGCAGTGAGCCGACATCGCGCCACTGCACTCCAGCCTGGGTGACACAGCGAGACTCCGTCTCAAAAAAAAAAAAAAGTAAATAAAATAAAATAAAATAAAATGACATCATTCTGCTCTCCAAGAACTCACAGCCTAGTGAGAAAGATGCCTATTTAGTAAGCAAATAATTGCAACACAGTCTGATATTTGTAATTCTTAGCGGAAGAGAGGCAGAAAAGAAAGAGTAGTAGCTTCACATTCCTTGAAGGTGAGGGTGAGACTAATGAGAGCCTTCACCACAAAACCAGTCCTCCGAAGAGCTCTAATTTTGAAATAGGATCCATCCCCACCCTTATGAATGGCTATGAAGCAAGACAAGCTATCCTGTTGAAATCCTTCCAGGCCAATCCCCCTTAAAACACACACACACACACACACACACACACACACACACACACACAACCTTAATTTCTTCATTCTCTGCTCTACCCCCAAGCCAATACCCACTGGTGATACTAAGATACTCATCTGGTTCAGAGAATAGCAGAAACTACCCATTCTTTTACCCTTCAAGATGCTCCCTAAGCACCCAGACCATTTCATTTTTTATCATCATCATCATCATCTGTTTGCATCATCTGGGGAAATTTGGTCTGAGTTAGAGTCTAGGGCAGTGTTAGGAAGAGTACAGATGGGACTTGAACAAAAGGAAATAAGCAGTGGTGGAGGAGAAACAACATGTTAAAACTTCCTGGAAGCACTGGGACATTTTCTGAAGGACTGGCAGAAATGCCAGATTGTGGGTGGCAAAATTGTTTTGACAGAATGAAGTAGAAGAGCTAGGGGTGTATATTAACTAGCAGCTATGTCTGCACAGGCTCAAATTCAGTATTGCTATTTGTTCTGATAGCAGAAAGTGGGGCAAGCCACTGAAATAGGAGACAATTCACTTAATACAAGGTGCCTGGCACCCTTGCCCAAGCAGTAACTTGTACTTTTCCAGCACAGAAAGAATTTTAATCACTTGAGCCCTTGGACCCTGGATCTGATAGCCAGATCTTCTGTGGAGCAGGGTGATCTCTGGGGAGTTTAGCCCTTCTTGGAGAGGCTCATTACATTCTCCATTCGAAAAAGTCTGAACCATTGCATTTTATGATTCTTCACACTGCCCACCCCACCCCCCATCTCTATTTTCCCCATGGCCTTGTCCCTGGAAAACTTCAAATCTTTTGGGC
TAACTTGTCTGAAAATGGCCTCATGGCAGAGGAGAGTAGAGATGACACTGATTTCTTCATTTTATACCAAGTCTCAGGAATGGCTGAGGGAAGCCATGGTTATTTGATCAGAAGGTATAATTTCATTTCCTTCCAGCATTGCCTAATGAAATAGCTGGCACTTTTCAGAAGGGCACTGGGAGGTGTAACTGAGAATAGTGGCTGCCAGCCACAGAGTTCTGCTCCTGCCCAAACCTTAACAAAGCATCACCAATTCTCAGAGGCTCTGTACAGCAGTTTGGAAATCTGAGAATTTACCCATCCCTCATGGTGGGATTGTGTTAACTTTCTGGGGAATCTGTGCCCTGTGAATCTAGTTTTACTTGAGCATCCGTGTTAAGAGAGGAAGGCCCTTGCATTTTCCCTCCCTTCTCCCAAAGAGTTGGGGTTAAGGAAGAAGGATCTAGGCTGAGCAGGAAAGGAAGAAGAGAAGCCAGGTACAGTGTAATCTGGAATATTATTTTCAGACCTTTCCATGGGGCCTGGGTACTGGACTCTTTTCAAAGGAACATATTGGCTTGGGTCCTTCCATTCACAGGACACAGGGAAACAGATCTTCTCTGGGCTGCCTGGAAGATAGGTTTAAAGGTTTAGATAACAACTTGTGTTAGTCACTCCAAATTGAAGAGTTCAGAATCCAGGATAGATATGGGTGGTTATATGTTTATGTTTCTTGGGCCAACTCCAATTCTCTGAGAACAGAGGCTATGAGGGAACTGGGTATCCTGAGAGTGTTCACTTGAGAAACTACAGAGGGAAAACAGTGGCGACCATGGTTCTAGCTTATGGTCAGAAGTCACCAGCAGAAATCAAGCTTCACAGTGGCAAACCCTGGCTTCTTTCAACAGAGATTGGTAGAAACCCTAGGATATGTTGATATCAGATTCCTGTATTTCTGAAAGCACAGACCACAAAGTGACCATCAGAGAGAGTCTTGCCTTTGGGAACTTGCTAGATGGAAAGGTAACAGAGGGAGCTCCAGCCTCAAGTCACCAAACTTCATGGTGGTGGTGGGAGGTAGGGGGCAGTCTATCCTTCCAACCACATGGTCCTCCTAATGTGAGTATCCAAGCATGGCTGAGGCCTTCTAAGCCACTTCAGCCTAATCCCACTCTTTCCCCCATCCTGGCTTAAGGGAGGTATGTGTATTGGGGCAGAAGCTGGGGAAGTGGAAAGGGGACAGTGGGAGGCGAACCTGGACTCCAGTTGGCCTAAGCTACCAACAGGCCACTGGGTTAAAGAAGAGGGAGTGGAGGATGGGTGCTTCGGGGGATCTCCAGTAAACCCGGGTAGTATTCCTTACCAGGGCATTGGAAGAGAGGAAAAGAGACCAGAGGAATGGGGGAGTGGGAACAGGTCATCAGACATTGCTGATGCGCACACTAAGGGCACTGCCCTCCTTCTCAGCTTGCTCCCTTAATGACTCCTCCAACTTGAGCTTTTCAGGGTCTCCGTAGCGTACAGTGCTGTCACGGAGGCCACTAGGAGAGGCCACTTTCACAACTTGGTCAAAAAGGCTAAAGTCAGCTATGTATTTACCACTGGCTGACAGTGAGATGGCAGGTGTGAACTCGTAGCCCCAAAGGATCTCCTCTGGCAGGTAGGAAGTGCGCACCTGACAGGTGGCACTGGTGGACTCCACTGTCCCACTTAGGATCAGCACCAGCTCAAAGTCACCCTCACCACTGCGAAGAGGGAGATCTTTCAAGGGACTGGTCTCATCTACCACATGATAGAAGGTAAGGGGTAGAATAAGGAAGGGGCTGTCAGAGGCTGTGTCTACTTGGAAAGTCACATTGACCTGGTTGAGCCGGATGTTCTCCCCTTCCTTGGTTTGGTGGGTCTGAAGCAGTTTTCCTGTCACCTGGCAGCCAATGAGGAGGCTTTTGCGCATATTGGCAACTCGGATCATGAGGCAGGGCTTGCCATTGTGGGAGGCCACAACTGCATGCTGGCTGAAACGAATGGTCTCAGCCCGCTTCTTGGGCCGGGCAATCTTCGCCAGGAAGATACCTGTGATGAAGATTTCCAGGATGGTGGTGAGCACCAGCTGGGCAATAAGAAGCACAATGGCCAGTGGACATTCCTCACTGATGTAGCGGAAGCCATAGCCAATGGTGGTTTGGGATTCAAGGGAGAAGAGGAAGGCTCCAGTGAGTGTGTGCACCTGTACCACACAGGGGGTGTGGTTGGCCGGGGGGTCCAGCTCCAGCAGGTCCCCATGTGCCACAGCTACCAGATACCACACCACGCCAAAGAGGAACCATGTGCCTGCAAAGGTCGCAGAGAAGAGCAGAAGCTTGTAGCGCCACTGCATGTCAATGAAGGTTGTCCACAGGTCCTTGAGGTAGAGGAAGCGCTTGTCGGCAATGTGCTCCATTCTCACGTTGCTGCGACCATCTTTTGTCAGGACTCTCCGCCGTCGTATCCCTGGGCCCATTAGGGGCCGGCTTTCTGTCTGAGTGGTCTGACTGTAATACACCTTGGCAACTGACGTCATCTGGAGGGAGCAAGACAGCATAATGGAGGTTATCGTAGAAATCCAGCTGACTCCTAACCCTCACCCCATGGGAGGGAGGAATTAACATTCATTTGAATGTCGCTTATGTGTTCTTGTCTTACCAAATATTTATTGAGCACTTGCTATGTGCCAGGCACTGTGCAGGGGCCGAGGCGGGTGGATCGCCTGAGGTCAGGAGTTCAAGACCAGCCTGGCCAACAAGGCAAAACCCTGTCTCTACTAAAAATACAAAAATTAGCTGGGCATGGTGGCATGCGCCTGTAGTCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATCGCTTGAACCCGGGAGACAGAGGTTGCAGTGAGCCGACATCGCGCCACTGCACTCCAGCCTGGGTGACACAGCGAGACTCCGTCTCAAAAAAAAAAAAAAGTAAATAAAATAAAATAAAATAAAATGACATCATTCTGCTCTCCAAGAACTCACAGCCTAGTGAGAAAGATGCCTATTTAGTAAGCAAATAATTGCAACACAGTCTGATATTTGTAATTCTTAGCGGAAGAGAGGCAGAAAAGAAAGAGTAGTAGCTTCACATTCCTTGAAGGTGAGGGTGAGACTAATGAGAGCCTTCACCACAAAACCAGTCCTCCGAAGAGCTCTAATTTTGAAATAGGATCCATCCCCACCCTTATGAATGGCTATGAAGCAAGACAAGCTATCCTGTTGAAATCCTTCCAGGCCAATCCCCCTTAAAACACACACACACACACACACACACACACACACACACACACACAACCTTAATTTCTTCATTCTCTGCTCTACCCCCAAGCCAATACCCACTGGTGATACTAAGATACTCATCTGGTTCAGAGAATAGCAGAAACTACCCATTCTTTTACCCTTCAAGATGCTCCCTAAGCACCCAGACCATTTCATTTTTTATCATCATCATCATCATCTGTTTGCATCATCTGGGGAAATTTGGTCTGAGTTAGAGTCTAGGGCAGTGTTAGGAAGAGTACAGATGGGACTTGAACAAAAGGAAATAAGCAGTGGTGGAGGAGAAACAACATGTTAAAACTTCCTGGAAGCACTGGGACATTTTCTGAAGGACTGGCAGAAATGCCAGATTGTGGGTGGCAAAATTGTTTTGACAGAATGAAGTAGAAGAGCTAGGGGTGTATATTAACTAGCAGCTATGTCTGCACAGGCTCAAATTCAGTATTGCTATTTGTTCTGATAGCAGAAAGTGGGGCAAGCCACTGAAATAGGAGACAATTCACTTAATACAAGGTGCCTGGCACCCTTGCCCAAGCAGTAACTTGTACTTTTCCAGCACAGAAAGAATTTTAATCACTTGAGCCCTTGGACCCTGGATCTGATAGCCAGATCTTCTGTGGAGCAGGGTGATCTCTGGGGAGTTTAGCCCTTCTTGGAGAGGCTCATTACATTCTCCATTCGAAAAAGTCTGAACCATTGCATTTTATGATTCTTCACACTGCCCACCCCACCCCCCATCTCTATTTTCCCCATGGCCTTGTCCCTGGAAAACTTCAAATCTTTTGGGC
Task1_train_1920
Located on Chromosome 1, this mutation impacts KCNJ10 (potassium inwardly rectifying channel subfamily J member 10). What is its biological consequence — is it benign or pathogenic, and which disease is associated if any?
Pathogenic; EAST syndrome
TCAGGAATGGCTGAGGGAAGCCATGGTTATTTGATCAGAAGGTATAATTTCATTTCCTTCCAGCATTGCCTAATGAAATAGCTGGCACTTTTCAGAAGGGCACTGGGAGGTGTAACTGAGAATAGTGGCTGCCAGCCACAGAGTTCTGCTCCTGCCCAAACCTTAACAAAGCATCACCAATTCTCAGAGGCTCTGTACAGCAGTTTGGAAATCTGAGAATTTACCCATCCCTCATGGTGGGATTGTGTTAACTTTCTGGGGAATCTGTGCCCTGTGAATCTAGTTTTACTTGAGCATCCGTGTTAAGAGAGGAAGGCCCTTGCATTTTCCCTCCCTTCTCCCAAAGAGTTGGGGTTAAGGAAGAAGGATCTAGGCTGAGCAGGAAAGGAAGAAGAGAAGCCAGGTACAGTGTAATCTGGAATATTATTTTCAGACCTTTCCATGGGGCCTGGGTACTGGACTCTTTTCAAAGGAACATATTGGCTTGGGTCCTTCCATTCACAGGACACAGGGAAACAGATCTTCTCTGGGCTGCCTGGAAGATAGGTTTAAAGGTTTAGATAACAACTTGTGTTAGTCACTCCAAATTGAAGAGTTCAGAATCCAGGATAGATATGGGTGGTTATATGTTTATGTTTCTTGGGCCAACTCCAATTCTCTGAGAACAGAGGCTATGAGGGAACTGGGTATCCTGAGAGTGTTCACTTGAGAAACTACAGAGGGAAAACAGTGGCGACCATGGTTCTAGCTTATGGTCAGAAGTCACCAGCAGAAATCAAGCTTCACAGTGGCAAACCCTGGCTTCTTTCAACAGAGATTGGTAGAAACCCTAGGATATGTTGATATCAGATTCCTGTATTTCTGAAAGCACAGACCACAAAGTGACCATCAGAGAGAGTCTTGCCTTTGGGAACTTGCTAGATGGAAAGGTAACAGAGGGAGCTCCAGCCTCAAGTCACCAAACTTCATGGTGGTGGTGGGAGGTAGGGGGCAGTCTATCCTTCCAACCACATGGTCCTCCTAATGTGAGTATCCAAGCATGGCTGAGGCCTTCTAAGCCACTTCAGCCTAATCCCACTCTTTCCCCCATCCTGGCTTAAGGGAGGTATGTGTATTGGGGCAGAAGCTGGGGAAGTGGAAAGGGGACAGTGGGAGGCGAACCTGGACTCCAGTTGGCCTAAGCTACCAACAGGCCACTGGGTTAAAGAAGAGGGAGTGGAGGATGGGTGCTTCGGGGGATCTCCAGTAAACCCGGGTAGTATTCCTTACCAGGGCATTGGAAGAGAGGAAAAGAGACCAGAGGAATGGGGGAGTGGGAACAGGTCATCAGACATTGCTGATGCGCACACTAAGGGCACTGCCCTCCTTCTCAGCTTGCTCCCTTAATGACTCCTCCAACTTGAGCTTTTCAGGGTCTCCGTAGCGTACAGTGCTGTCACGGAGGCCACTAGGAGAGGCCACTTTCACAACTTGGTCAAAAAGGCTAAAGTCAGCTATGTATTTACCACTGGCTGACAGTGAGATGGCAGGTGTGAACTCGTAGCCCCAAAGGATCTCCTCTGGCAGGTAGGAAGTGCGCACCTGACAGGTGGCACTGGTGGACTCCACTGTCCCACTTAGGATCAGCACCAGCTCAAAGTCACCCTCACCACTGCGAAGAGGGAGATCTTTCAAGGGACTGGTCTCATCTACCACATGATAGAAGGTAAGGGGTAGAATAAGGAAGGGGCTGTCAGAGGCTGTGTCTACTTGGAAAGTCACATTGACCTGGTTGAGCCGGATGTTCTCCCCTTCCTTGGTTTGGTGGGTCTGAAGCAGTTTTCCTGTCACCTGGCAGCCAATGAGGAGGCTTTTGCGCATATTGGCAACTCGGATCATGAGGCAGGGCTTGCCATTGTGGGAGGCCACAACTGCATGCTGGCTGAAACGAATGGTCTCAGCCCGCTTCTTGGGCCGGGCAATCTTCGCCAGGAAGGTACCTGTGATGAAGATTTCCAGGATGGTGGTGAGCACCAGCTGGGCAATAAGAAGCACAATGGCCAGTGGACATTCCTCACTGATGTAGCGGAAGCCATAGCCAATGGTGGTTTGGGATTCAAGGGAGAAGAGGAAGGCTCCAGTGAGTGTGTGCACCTGTACCACACAGGGGGTGTGGTTGGCCGGGGGGTCCAGCTCCAGCAGGTCCCCATGTGCCACAGCTACCAGATACCACACCACGCCAAAGAGGAACCATGTGCCTGCAAAGGTCGCAGAGAAGAGCAGAAGCTTGTAGCGCCACTGCATGTCAATGAAGGTTGTCCACAGGTCCTTGAGGTAGAGGAAGCGCTTGTCGGCAATGTGCTCCATTCTCACGTTGCTGCGACCATCTTTTGTCAGGACTCTCCGCCGTCGTATCCCTGGGCCCATTAGGGGCCGGCTTTCTGTCTGAGTGGTCTGACTGTAATACACCTTGGCAACTGACGTCATCTGGAGGGAGCAAGACAGCATAATGGAGGTTATCGTAGAAATCCAGCTGACTCCTAACCCTCACCCCATGGGAGGGAGGAATTAACATTCATTTGAATGTCGCTTATGTGTTCTTGTCTTACCAAATATTTATTGAGCACTTGCTATGTGCCAGGCACTGTGCAGGGGCCGAGGCGGGTGGATCGCCTGAGGTCAGGAGTTCAAGACCAGCCTGGCCAACAAGGCAAAACCCTGTCTCTACTAAAAATACAAAAATTAGCTGGGCATGGTGGCATGCGCCTGTAGTCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATCGCTTGAACCCGGGAGACAGAGGTTGCAGTGAGCCGACATCGCGCCACTGCACTCCAGCCTGGGTGACACAGCGAGACTCCGTCTCAAAAAAAAAAAAAAGTAAATAAAATAAAATAAAATAAAATGACATCATTCTGCTCTCCAAGAACTCACAGCCTAGTGAGAAAGATGCCTATTTAGTAAGCAAATAATTGCAACACAGTCTGATATTTGTAATTCTTAGCGGAAGAGAGGCAGAAAAGAAAGAGTAGTAGCTTCACATTCCTTGAAGGTGAGGGTGAGACTAATGAGAGCCTTCACCACAAAACCAGTCCTCCGAAGAGCTCTAATTTTGAAATAGGATCCATCCCCACCCTTATGAATGGCTATGAAGCAAGACAAGCTATCCTGTTGAAATCCTTCCAGGCCAATCCCCCTTAAAACACACACACACACACACACACACACACACACACACACACACAACCTTAATTTCTTCATTCTCTGCTCTACCCCCAAGCCAATACCCACTGGTGATACTAAGATACTCATCTGGTTCAGAGAATAGCAGAAACTACCCATTCTTTTACCCTTCAAGATGCTCCCTAAGCACCCAGACCATTTCATTTTTTATCATCATCATCATCATCTGTTTGCATCATCTGGGGAAATTTGGTCTGAGTTAGAGTCTAGGGCAGTGTTAGGAAGAGTACAGATGGGACTTGAACAAAAGGAAATAAGCAGTGGTGGAGGAGAAACAACATGTTAAAACTTCCTGGAAGCACTGGGACATTTTCTGAAGGACTGGCAGAAATGCCAGATTGTGGGTGGCAAAATTGTTTTGACAGAATGAAGTAGAAGAGCTAGGGGTGTATATTAACTAGCAGCTATGTCTGCACAGGCTCAAATTCAGTATTGCTATTTGTTCTGATAGCAGAAAGTGGGGCAAGCCACTGAAATAGGAGACAATTCACTTAATACAAGGTGCCTGGCACCCTTGCCCAAGCAGTAACTTGTACTTTTCCAGCACAGAAAGAATTTTAATCACTTGAGCCCTTGGACCCTGGATCTGATAGCCAGATCTTCTGTGGAGCAGGGTGATCTCTGGGGAGTTTAGCCCTTCTTGGAGAGGCTCATTACATTCTCCATTCGAAAAAGTCTGAACCATTGCATTTTATGATTCTTCACACTGCCCACCCCACCCCCCATCTCTATTTTCCCCATGGCCTTGTCCCTGGAAAACTTCAAATCTTTTGGGCCTGACCATATGCCCAACCAGGTAGGCACTGAATTGGAGATCACCAATGGATGAGAACCCTGAGAATGTTCAGA
TCAGGAATGGCTGAGGGAAGCCATGGTTATTTGATCAGAAGGTATAATTTCATTTCCTTCCAGCATTGCCTAATGAAATAGCTGGCACTTTTCAGAAGGGCACTGGGAGGTGTAACTGAGAATAGTGGCTGCCAGCCACAGAGTTCTGCTCCTGCCCAAACCTTAACAAAGCATCACCAATTCTCAGAGGCTCTGTACAGCAGTTTGGAAATCTGAGAATTTACCCATCCCTCATGGTGGGATTGTGTTAACTTTCTGGGGAATCTGTGCCCTGTGAATCTAGTTTTACTTGAGCATCCGTGTTAAGAGAGGAAGGCCCTTGCATTTTCCCTCCCTTCTCCCAAAGAGTTGGGGTTAAGGAAGAAGGATCTAGGCTGAGCAGGAAAGGAAGAAGAGAAGCCAGGTACAGTGTAATCTGGAATATTATTTTCAGACCTTTCCATGGGGCCTGGGTACTGGACTCTTTTCAAAGGAACATATTGGCTTGGGTCCTTCCATTCACAGGACACAGGGAAACAGATCTTCTCTGGGCTGCCTGGAAGATAGGTTTAAAGGTTTAGATAACAACTTGTGTTAGTCACTCCAAATTGAAGAGTTCAGAATCCAGGATAGATATGGGTGGTTATATGTTTATGTTTCTTGGGCCAACTCCAATTCTCTGAGAACAGAGGCTATGAGGGAACTGGGTATCCTGAGAGTGTTCACTTGAGAAACTACAGAGGGAAAACAGTGGCGACCATGGTTCTAGCTTATGGTCAGAAGTCACCAGCAGAAATCAAGCTTCACAGTGGCAAACCCTGGCTTCTTTCAACAGAGATTGGTAGAAACCCTAGGATATGTTGATATCAGATTCCTGTATTTCTGAAAGCACAGACCACAAAGTGACCATCAGAGAGAGTCTTGCCTTTGGGAACTTGCTAGATGGAAAGGTAACAGAGGGAGCTCCAGCCTCAAGTCACCAAACTTCATGGTGGTGGTGGGAGGTAGGGGGCAGTCTATCCTTCCAACCACATGGTCCTCCTAATGTGAGTATCCAAGCATGGCTGAGGCCTTCTAAGCCACTTCAGCCTAATCCCACTCTTTCCCCCATCCTGGCTTAAGGGAGGTATGTGTATTGGGGCAGAAGCTGGGGAAGTGGAAAGGGGACAGTGGGAGGCGAACCTGGACTCCAGTTGGCCTAAGCTACCAACAGGCCACTGGGTTAAAGAAGAGGGAGTGGAGGATGGGTGCTTCGGGGGATCTCCAGTAAACCCGGGTAGTATTCCTTACCAGGGCATTGGAAGAGAGGAAAAGAGACCAGAGGAATGGGGGAGTGGGAACAGGTCATCAGACATTGCTGATGCGCACACTAAGGGCACTGCCCTCCTTCTCAGCTTGCTCCCTTAATGACTCCTCCAACTTGAGCTTTTCAGGGTCTCCGTAGCGTACAGTGCTGTCACGGAGGCCACTAGGAGAGGCCACTTTCACAACTTGGTCAAAAAGGCTAAAGTCAGCTATGTATTTACCACTGGCTGACAGTGAGATGGCAGGTGTGAACTCGTAGCCCCAAAGGATCTCCTCTGGCAGGTAGGAAGTGCGCACCTGACAGGTGGCACTGGTGGACTCCACTGTCCCACTTAGGATCAGCACCAGCTCAAAGTCACCCTCACCACTGCGAAGAGGGAGATCTTTCAAGGGACTGGTCTCATCTACCACATGATAGAAGGTAAGGGGTAGAATAAGGAAGGGGCTGTCAGAGGCTGTGTCTACTTGGAAAGTCACATTGACCTGGTTGAGCCGGATGTTCTCCCCTTCCTTGGTTTGGTGGGTCTGAAGCAGTTTTCCTGTCACCTGGCAGCCAATGAGGAGGCTTTTGCGCATATTGGCAACTCGGATCATGAGGCAGGGCTTGCCATTGTGGGAGGCCACAACTGCATGCTGGCTGAAACGAATGGTCTCAGCCCGCTTCTTGGGCCGGGCAATCTTCGCCAGGAAGGTACCTGTGATGAAGATTTCCAGGATGGTGGTGAGCACCAGCTGGGCAATAAGAAGCACAATGGCCAGTGGACGTTCCTCACTGATGTAGCGGAAGCCATAGCCAATGGTGGTTTGGGATTCAAGGGAGAAGAGGAAGGCTCCAGTGAGTGTGTGCACCTGTACCACACAGGGGGTGTGGTTGGCCGGGGGGTCCAGCTCCAGCAGGTCCCCATGTGCCACAGCTACCAGATACCACACCACGCCAAAGAGGAACCATGTGCCTGCAAAGGTCGCAGAGAAGAGCAGAAGCTTGTAGCGCCACTGCATGTCAATGAAGGTTGTCCACAGGTCCTTGAGGTAGAGGAAGCGCTTGTCGGCAATGTGCTCCATTCTCACGTTGCTGCGACCATCTTTTGTCAGGACTCTCCGCCGTCGTATCCCTGGGCCCATTAGGGGCCGGCTTTCTGTCTGAGTGGTCTGACTGTAATACACCTTGGCAACTGACGTCATCTGGAGGGAGCAAGACAGCATAATGGAGGTTATCGTAGAAATCCAGCTGACTCCTAACCCTCACCCCATGGGAGGGAGGAATTAACATTCATTTGAATGTCGCTTATGTGTTCTTGTCTTACCAAATATTTATTGAGCACTTGCTATGTGCCAGGCACTGTGCAGGGGCCGAGGCGGGTGGATCGCCTGAGGTCAGGAGTTCAAGACCAGCCTGGCCAACAAGGCAAAACCCTGTCTCTACTAAAAATACAAAAATTAGCTGGGCATGGTGGCATGCGCCTGTAGTCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATCGCTTGAACCCGGGAGACAGAGGTTGCAGTGAGCCGACATCGCGCCACTGCACTCCAGCCTGGGTGACACAGCGAGACTCCGTCTCAAAAAAAAAAAAAAGTAAATAAAATAAAATAAAATAAAATGACATCATTCTGCTCTCCAAGAACTCACAGCCTAGTGAGAAAGATGCCTATTTAGTAAGCAAATAATTGCAACACAGTCTGATATTTGTAATTCTTAGCGGAAGAGAGGCAGAAAAGAAAGAGTAGTAGCTTCACATTCCTTGAAGGTGAGGGTGAGACTAATGAGAGCCTTCACCACAAAACCAGTCCTCCGAAGAGCTCTAATTTTGAAATAGGATCCATCCCCACCCTTATGAATGGCTATGAAGCAAGACAAGCTATCCTGTTGAAATCCTTCCAGGCCAATCCCCCTTAAAACACACACACACACACACACACACACACACACACACACACACAACCTTAATTTCTTCATTCTCTGCTCTACCCCCAAGCCAATACCCACTGGTGATACTAAGATACTCATCTGGTTCAGAGAATAGCAGAAACTACCCATTCTTTTACCCTTCAAGATGCTCCCTAAGCACCCAGACCATTTCATTTTTTATCATCATCATCATCATCTGTTTGCATCATCTGGGGAAATTTGGTCTGAGTTAGAGTCTAGGGCAGTGTTAGGAAGAGTACAGATGGGACTTGAACAAAAGGAAATAAGCAGTGGTGGAGGAGAAACAACATGTTAAAACTTCCTGGAAGCACTGGGACATTTTCTGAAGGACTGGCAGAAATGCCAGATTGTGGGTGGCAAAATTGTTTTGACAGAATGAAGTAGAAGAGCTAGGGGTGTATATTAACTAGCAGCTATGTCTGCACAGGCTCAAATTCAGTATTGCTATTTGTTCTGATAGCAGAAAGTGGGGCAAGCCACTGAAATAGGAGACAATTCACTTAATACAAGGTGCCTGGCACCCTTGCCCAAGCAGTAACTTGTACTTTTCCAGCACAGAAAGAATTTTAATCACTTGAGCCCTTGGACCCTGGATCTGATAGCCAGATCTTCTGTGGAGCAGGGTGATCTCTGGGGAGTTTAGCCCTTCTTGGAGAGGCTCATTACATTCTCCATTCGAAAAAGTCTGAACCATTGCATTTTATGATTCTTCACACTGCCCACCCCACCCCCCATCTCTATTTTCCCCATGGCCTTGTCCCTGGAAAACTTCAAATCTTTTGGGCCTGACCATATGCCCAACCAGGTAGGCACTGAATTGGAGATCACCAATGGATGAGAACCCTGAGAATGTTCAGA
Task1_train_1921
Given a variant located on Chromosome 1 and affecting KCNJ10 (potassium inwardly rectifying channel subfamily J member 10), assess whether it is benign or pathogenic. Indicate the associated disease if pathogenic.
Pathogenic; EAST syndrome
TGTACAGCAGTTTGGAAATCTGAGAATTTACCCATCCCTCATGGTGGGATTGTGTTAACTTTCTGGGGAATCTGTGCCCTGTGAATCTAGTTTTACTTGAGCATCCGTGTTAAGAGAGGAAGGCCCTTGCATTTTCCCTCCCTTCTCCCAAAGAGTTGGGGTTAAGGAAGAAGGATCTAGGCTGAGCAGGAAAGGAAGAAGAGAAGCCAGGTACAGTGTAATCTGGAATATTATTTTCAGACCTTTCCATGGGGCCTGGGTACTGGACTCTTTTCAAAGGAACATATTGGCTTGGGTCCTTCCATTCACAGGACACAGGGAAACAGATCTTCTCTGGGCTGCCTGGAAGATAGGTTTAAAGGTTTAGATAACAACTTGTGTTAGTCACTCCAAATTGAAGAGTTCAGAATCCAGGATAGATATGGGTGGTTATATGTTTATGTTTCTTGGGCCAACTCCAATTCTCTGAGAACAGAGGCTATGAGGGAACTGGGTATCCTGAGAGTGTTCACTTGAGAAACTACAGAGGGAAAACAGTGGCGACCATGGTTCTAGCTTATGGTCAGAAGTCACCAGCAGAAATCAAGCTTCACAGTGGCAAACCCTGGCTTCTTTCAACAGAGATTGGTAGAAACCCTAGGATATGTTGATATCAGATTCCTGTATTTCTGAAAGCACAGACCACAAAGTGACCATCAGAGAGAGTCTTGCCTTTGGGAACTTGCTAGATGGAAAGGTAACAGAGGGAGCTCCAGCCTCAAGTCACCAAACTTCATGGTGGTGGTGGGAGGTAGGGGGCAGTCTATCCTTCCAACCACATGGTCCTCCTAATGTGAGTATCCAAGCATGGCTGAGGCCTTCTAAGCCACTTCAGCCTAATCCCACTCTTTCCCCCATCCTGGCTTAAGGGAGGTATGTGTATTGGGGCAGAAGCTGGGGAAGTGGAAAGGGGACAGTGGGAGGCGAACCTGGACTCCAGTTGGCCTAAGCTACCAACAGGCCACTGGGTTAAAGAAGAGGGAGTGGAGGATGGGTGCTTCGGGGGATCTCCAGTAAACCCGGGTAGTATTCCTTACCAGGGCATTGGAAGAGAGGAAAAGAGACCAGAGGAATGGGGGAGTGGGAACAGGTCATCAGACATTGCTGATGCGCACACTAAGGGCACTGCCCTCCTTCTCAGCTTGCTCCCTTAATGACTCCTCCAACTTGAGCTTTTCAGGGTCTCCGTAGCGTACAGTGCTGTCACGGAGGCCACTAGGAGAGGCCACTTTCACAACTTGGTCAAAAAGGCTAAAGTCAGCTATGTATTTACCACTGGCTGACAGTGAGATGGCAGGTGTGAACTCGTAGCCCCAAAGGATCTCCTCTGGCAGGTAGGAAGTGCGCACCTGACAGGTGGCACTGGTGGACTCCACTGTCCCACTTAGGATCAGCACCAGCTCAAAGTCACCCTCACCACTGCGAAGAGGGAGATCTTTCAAGGGACTGGTCTCATCTACCACATGATAGAAGGTAAGGGGTAGAATAAGGAAGGGGCTGTCAGAGGCTGTGTCTACTTGGAAAGTCACATTGACCTGGTTGAGCCGGATGTTCTCCCCTTCCTTGGTTTGGTGGGTCTGAAGCAGTTTTCCTGTCACCTGGCAGCCAATGAGGAGGCTTTTGCGCATATTGGCAACTCGGATCATGAGGCAGGGCTTGCCATTGTGGGAGGCCACAACTGCATGCTGGCTGAAACGAATGGTCTCAGCCCGCTTCTTGGGCCGGGCAATCTTCGCCAGGAAGGTACCTGTGATGAAGATTTCCAGGATGGTGGTGAGCACCAGCTGGGCAATAAGAAGCACAATGGCCAGTGGACATTCCTCACTGATGTAGCGGAAGCCATAGCCAATGGTGGTTTGGGATTCAAGGGAGAAGAGGAAGGCTCCAGTGAGTGTGTGCACCTGTACCACACAGGGGGTGTGGTTGGCCGGGGGGTCCAGCTCCAGCAGGTCCCCATGTGCCACAGCTACCAGATACCACACCACGCCAAAGAGGAACCATGTGCCTGCAAAGGTCGCAGAGAAGAGCAGAAGCTTGTAGCGCCACTGCATGTCAATGAAGGTTGTCCACAGGTCCTTGAGGTAGAGGAAGCGCTTGTCGGCAATGTGCTCCATTCTCACGTTGCTGCGACCATCTTTTGTCAGGACTCTCCGCCGTCGTATCCCTGGGCCCATTAGGGGCCGGCTTTCTGTCTGAGTGGTCTGACTGTAATACACCTTGGCAACTGACGTCATCTGGAGGGAGCAAGACAGCATAATGGAGGTTATCGTAGAAATCCAGCTGACTCCTAACCCTCACCCCATGGGAGGGAGGAATTAACATTCATTTGAATGTCGCTTATGTGTTCTTGTCTTACCAAATATTTATTGAGCACTTGCTATGTGCCAGGCACTGTGCAGGGGCCGAGGCGGGTGGATCGCCTGAGGTCAGGAGTTCAAGACCAGCCTGGCCAACAAGGCAAAACCCTGTCTCTACTAAAAATACAAAAATTAGCTGGGCATGGTGGCATGCGCCTGTAGTCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATCGCTTGAACCCGGGAGACAGAGGTTGCAGTGAGCCGACATCGCGCCACTGCACTCCAGCCTGGGTGACACAGCGAGACTCCGTCTCAAAAAAAAAAAAAAGTAAATAAAATAAAATAAAATAAAATGACATCATTCTGCTCTCCAAGAACTCACAGCCTAGTGAGAAAGATGCCTATTTAGTAAGCAAATAATTGCAACACAGTCTGATATTTGTAATTCTTAGCGGAAGAGAGGCAGAAAAGAAAGAGTAGTAGCTTCACATTCCTTGAAGGTGAGGGTGAGACTAATGAGAGCCTTCACCACAAAACCAGTCCTCCGAAGAGCTCTAATTTTGAAATAGGATCCATCCCCACCCTTATGAATGGCTATGAAGCAAGACAAGCTATCCTGTTGAAATCCTTCCAGGCCAATCCCCCTTAAAACACACACACACACACACACACACACACACACACACACACACAACCTTAATTTCTTCATTCTCTGCTCTACCCCCAAGCCAATACCCACTGGTGATACTAAGATACTCATCTGGTTCAGAGAATAGCAGAAACTACCCATTCTTTTACCCTTCAAGATGCTCCCTAAGCACCCAGACCATTTCATTTTTTATCATCATCATCATCATCTGTTTGCATCATCTGGGGAAATTTGGTCTGAGTTAGAGTCTAGGGCAGTGTTAGGAAGAGTACAGATGGGACTTGAACAAAAGGAAATAAGCAGTGGTGGAGGAGAAACAACATGTTAAAACTTCCTGGAAGCACTGGGACATTTTCTGAAGGACTGGCAGAAATGCCAGATTGTGGGTGGCAAAATTGTTTTGACAGAATGAAGTAGAAGAGCTAGGGGTGTATATTAACTAGCAGCTATGTCTGCACAGGCTCAAATTCAGTATTGCTATTTGTTCTGATAGCAGAAAGTGGGGCAAGCCACTGAAATAGGAGACAATTCACTTAATACAAGGTGCCTGGCACCCTTGCCCAAGCAGTAACTTGTACTTTTCCAGCACAGAAAGAATTTTAATCACTTGAGCCCTTGGACCCTGGATCTGATAGCCAGATCTTCTGTGGAGCAGGGTGATCTCTGGGGAGTTTAGCCCTTCTTGGAGAGGCTCATTACATTCTCCATTCGAAAAAGTCTGAACCATTGCATTTTATGATTCTTCACACTGCCCACCCCACCCCCCATCTCTATTTTCCCCATGGCCTTGTCCCTGGAAAACTTCAAATCTTTTGGGCCTGACCATATGCCCAACCAGGTAGGCACTGAATTGGAGATCACCAATGGATGAGAACCCTGAGAATGTTCAGAGGCAACAAGGATGCCCAATTTACCAGCCCTGTGTCACAGGCCATTTGGAACTTCCGTTCATGCAAGACTGTTCAACCAGACCTGGATGTCATTCACTCCCCTATATCCTTGGCTGCTTTGGAACAAAAAGGAAGCTCTGCAACTCTGAAGTTTGAAGAATTTGTATTTCAAGCCTAAACAAAGCCCTATTTAG
TGTACAGCAGTTTGGAAATCTGAGAATTTACCCATCCCTCATGGTGGGATTGTGTTAACTTTCTGGGGAATCTGTGCCCTGTGAATCTAGTTTTACTTGAGCATCCGTGTTAAGAGAGGAAGGCCCTTGCATTTTCCCTCCCTTCTCCCAAAGAGTTGGGGTTAAGGAAGAAGGATCTAGGCTGAGCAGGAAAGGAAGAAGAGAAGCCAGGTACAGTGTAATCTGGAATATTATTTTCAGACCTTTCCATGGGGCCTGGGTACTGGACTCTTTTCAAAGGAACATATTGGCTTGGGTCCTTCCATTCACAGGACACAGGGAAACAGATCTTCTCTGGGCTGCCTGGAAGATAGGTTTAAAGGTTTAGATAACAACTTGTGTTAGTCACTCCAAATTGAAGAGTTCAGAATCCAGGATAGATATGGGTGGTTATATGTTTATGTTTCTTGGGCCAACTCCAATTCTCTGAGAACAGAGGCTATGAGGGAACTGGGTATCCTGAGAGTGTTCACTTGAGAAACTACAGAGGGAAAACAGTGGCGACCATGGTTCTAGCTTATGGTCAGAAGTCACCAGCAGAAATCAAGCTTCACAGTGGCAAACCCTGGCTTCTTTCAACAGAGATTGGTAGAAACCCTAGGATATGTTGATATCAGATTCCTGTATTTCTGAAAGCACAGACCACAAAGTGACCATCAGAGAGAGTCTTGCCTTTGGGAACTTGCTAGATGGAAAGGTAACAGAGGGAGCTCCAGCCTCAAGTCACCAAACTTCATGGTGGTGGTGGGAGGTAGGGGGCAGTCTATCCTTCCAACCACATGGTCCTCCTAATGTGAGTATCCAAGCATGGCTGAGGCCTTCTAAGCCACTTCAGCCTAATCCCACTCTTTCCCCCATCCTGGCTTAAGGGAGGTATGTGTATTGGGGCAGAAGCTGGGGAAGTGGAAAGGGGACAGTGGGAGGCGAACCTGGACTCCAGTTGGCCTAAGCTACCAACAGGCCACTGGGTTAAAGAAGAGGGAGTGGAGGATGGGTGCTTCGGGGGATCTCCAGTAAACCCGGGTAGTATTCCTTACCAGGGCATTGGAAGAGAGGAAAAGAGACCAGAGGAATGGGGGAGTGGGAACAGGTCATCAGACATTGCTGATGCGCACACTAAGGGCACTGCCCTCCTTCTCAGCTTGCTCCCTTAATGACTCCTCCAACTTGAGCTTTTCAGGGTCTCCGTAGCGTACAGTGCTGTCACGGAGGCCACTAGGAGAGGCCACTTTCACAACTTGGTCAAAAAGGCTAAAGTCAGCTATGTATTTACCACTGGCTGACAGTGAGATGGCAGGTGTGAACTCGTAGCCCCAAAGGATCTCCTCTGGCAGGTAGGAAGTGCGCACCTGACAGGTGGCACTGGTGGACTCCACTGTCCCACTTAGGATCAGCACCAGCTCAAAGTCACCCTCACCACTGCGAAGAGGGAGATCTTTCAAGGGACTGGTCTCATCTACCACATGATAGAAGGTAAGGGGTAGAATAAGGAAGGGGCTGTCAGAGGCTGTGTCTACTTGGAAAGTCACATTGACCTGGTTGAGCCGGATGTTCTCCCCTTCCTTGGTTTGGTGGGTCTGAAGCAGTTTTCCTGTCACCTGGCAGCCAATGAGGAGGCTTTTGCGCATATTGGCAACTCGGATCATGAGGCAGGGCTTGCCATTGTGGGAGGCCACAACTGCATGCTGGCTGAAACGAATGGTCTCAGCCCGCTTCTTGGGCCGGGCAATCTTCGCCAGGAAGGTACCTGTGATGAAGATTTCCAGGATGGTGGTGAGCACCAGCTGGGCAATAAGAAGCACAATGGCCAGTGGACATTCCTCACTGATGTAGCGGAAGCCATAGCCAATGGTGGTTTGGGATTCAAGGGAGAAGAGGAAGGCTCCAGTGAGTGTGTGCACCTGTACCACACAGGGGGTGTGGTTGGCCGGGGGGTCCAGCTCCAGCAGGTCCCCATGTGCCACAGCTACCAGATACCACACCACGCCAAAGAGGAACCATGTGCCTGCCAAGGTCGCAGAGAAGAGCAGAAGCTTGTAGCGCCACTGCATGTCAATGAAGGTTGTCCACAGGTCCTTGAGGTAGAGGAAGCGCTTGTCGGCAATGTGCTCCATTCTCACGTTGCTGCGACCATCTTTTGTCAGGACTCTCCGCCGTCGTATCCCTGGGCCCATTAGGGGCCGGCTTTCTGTCTGAGTGGTCTGACTGTAATACACCTTGGCAACTGACGTCATCTGGAGGGAGCAAGACAGCATAATGGAGGTTATCGTAGAAATCCAGCTGACTCCTAACCCTCACCCCATGGGAGGGAGGAATTAACATTCATTTGAATGTCGCTTATGTGTTCTTGTCTTACCAAATATTTATTGAGCACTTGCTATGTGCCAGGCACTGTGCAGGGGCCGAGGCGGGTGGATCGCCTGAGGTCAGGAGTTCAAGACCAGCCTGGCCAACAAGGCAAAACCCTGTCTCTACTAAAAATACAAAAATTAGCTGGGCATGGTGGCATGCGCCTGTAGTCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATCGCTTGAACCCGGGAGACAGAGGTTGCAGTGAGCCGACATCGCGCCACTGCACTCCAGCCTGGGTGACACAGCGAGACTCCGTCTCAAAAAAAAAAAAAAGTAAATAAAATAAAATAAAATAAAATGACATCATTCTGCTCTCCAAGAACTCACAGCCTAGTGAGAAAGATGCCTATTTAGTAAGCAAATAATTGCAACACAGTCTGATATTTGTAATTCTTAGCGGAAGAGAGGCAGAAAAGAAAGAGTAGTAGCTTCACATTCCTTGAAGGTGAGGGTGAGACTAATGAGAGCCTTCACCACAAAACCAGTCCTCCGAAGAGCTCTAATTTTGAAATAGGATCCATCCCCACCCTTATGAATGGCTATGAAGCAAGACAAGCTATCCTGTTGAAATCCTTCCAGGCCAATCCCCCTTAAAACACACACACACACACACACACACACACACACACACACACACAACCTTAATTTCTTCATTCTCTGCTCTACCCCCAAGCCAATACCCACTGGTGATACTAAGATACTCATCTGGTTCAGAGAATAGCAGAAACTACCCATTCTTTTACCCTTCAAGATGCTCCCTAAGCACCCAGACCATTTCATTTTTTATCATCATCATCATCATCTGTTTGCATCATCTGGGGAAATTTGGTCTGAGTTAGAGTCTAGGGCAGTGTTAGGAAGAGTACAGATGGGACTTGAACAAAAGGAAATAAGCAGTGGTGGAGGAGAAACAACATGTTAAAACTTCCTGGAAGCACTGGGACATTTTCTGAAGGACTGGCAGAAATGCCAGATTGTGGGTGGCAAAATTGTTTTGACAGAATGAAGTAGAAGAGCTAGGGGTGTATATTAACTAGCAGCTATGTCTGCACAGGCTCAAATTCAGTATTGCTATTTGTTCTGATAGCAGAAAGTGGGGCAAGCCACTGAAATAGGAGACAATTCACTTAATACAAGGTGCCTGGCACCCTTGCCCAAGCAGTAACTTGTACTTTTCCAGCACAGAAAGAATTTTAATCACTTGAGCCCTTGGACCCTGGATCTGATAGCCAGATCTTCTGTGGAGCAGGGTGATCTCTGGGGAGTTTAGCCCTTCTTGGAGAGGCTCATTACATTCTCCATTCGAAAAAGTCTGAACCATTGCATTTTATGATTCTTCACACTGCCCACCCCACCCCCCATCTCTATTTTCCCCATGGCCTTGTCCCTGGAAAACTTCAAATCTTTTGGGCCTGACCATATGCCCAACCAGGTAGGCACTGAATTGGAGATCACCAATGGATGAGAACCCTGAGAATGTTCAGAGGCAACAAGGATGCCCAATTTACCAGCCCTGTGTCACAGGCCATTTGGAACTTCCGTTCATGCAAGACTGTTCAACCAGACCTGGATGTCATTCACTCCCCTATATCCTTGGCTGCTTTGGAACAAAAAGGAAGCTCTGCAACTCTGAAGTTTGAAGAATTTGTATTTCAAGCCTAAACAAAGCCCTATTTAG
Task1_train_1922
This mutation is located in gene KCNJ10 (potassium inwardly rectifying channel subfamily J member 10) on Chromosome 1. Is it associated with a disease or is it a benign polymorphism?
Pathogenic; Cerebellar ataxia
CCATCCCTCATGGTGGGATTGTGTTAACTTTCTGGGGAATCTGTGCCCTGTGAATCTAGTTTTACTTGAGCATCCGTGTTAAGAGAGGAAGGCCCTTGCATTTTCCCTCCCTTCTCCCAAAGAGTTGGGGTTAAGGAAGAAGGATCTAGGCTGAGCAGGAAAGGAAGAAGAGAAGCCAGGTACAGTGTAATCTGGAATATTATTTTCAGACCTTTCCATGGGGCCTGGGTACTGGACTCTTTTCAAAGGAACATATTGGCTTGGGTCCTTCCATTCACAGGACACAGGGAAACAGATCTTCTCTGGGCTGCCTGGAAGATAGGTTTAAAGGTTTAGATAACAACTTGTGTTAGTCACTCCAAATTGAAGAGTTCAGAATCCAGGATAGATATGGGTGGTTATATGTTTATGTTTCTTGGGCCAACTCCAATTCTCTGAGAACAGAGGCTATGAGGGAACTGGGTATCCTGAGAGTGTTCACTTGAGAAACTACAGAGGGAAAACAGTGGCGACCATGGTTCTAGCTTATGGTCAGAAGTCACCAGCAGAAATCAAGCTTCACAGTGGCAAACCCTGGCTTCTTTCAACAGAGATTGGTAGAAACCCTAGGATATGTTGATATCAGATTCCTGTATTTCTGAAAGCACAGACCACAAAGTGACCATCAGAGAGAGTCTTGCCTTTGGGAACTTGCTAGATGGAAAGGTAACAGAGGGAGCTCCAGCCTCAAGTCACCAAACTTCATGGTGGTGGTGGGAGGTAGGGGGCAGTCTATCCTTCCAACCACATGGTCCTCCTAATGTGAGTATCCAAGCATGGCTGAGGCCTTCTAAGCCACTTCAGCCTAATCCCACTCTTTCCCCCATCCTGGCTTAAGGGAGGTATGTGTATTGGGGCAGAAGCTGGGGAAGTGGAAAGGGGACAGTGGGAGGCGAACCTGGACTCCAGTTGGCCTAAGCTACCAACAGGCCACTGGGTTAAAGAAGAGGGAGTGGAGGATGGGTGCTTCGGGGGATCTCCAGTAAACCCGGGTAGTATTCCTTACCAGGGCATTGGAAGAGAGGAAAAGAGACCAGAGGAATGGGGGAGTGGGAACAGGTCATCAGACATTGCTGATGCGCACACTAAGGGCACTGCCCTCCTTCTCAGCTTGCTCCCTTAATGACTCCTCCAACTTGAGCTTTTCAGGGTCTCCGTAGCGTACAGTGCTGTCACGGAGGCCACTAGGAGAGGCCACTTTCACAACTTGGTCAAAAAGGCTAAAGTCAGCTATGTATTTACCACTGGCTGACAGTGAGATGGCAGGTGTGAACTCGTAGCCCCAAAGGATCTCCTCTGGCAGGTAGGAAGTGCGCACCTGACAGGTGGCACTGGTGGACTCCACTGTCCCACTTAGGATCAGCACCAGCTCAAAGTCACCCTCACCACTGCGAAGAGGGAGATCTTTCAAGGGACTGGTCTCATCTACCACATGATAGAAGGTAAGGGGTAGAATAAGGAAGGGGCTGTCAGAGGCTGTGTCTACTTGGAAAGTCACATTGACCTGGTTGAGCCGGATGTTCTCCCCTTCCTTGGTTTGGTGGGTCTGAAGCAGTTTTCCTGTCACCTGGCAGCCAATGAGGAGGCTTTTGCGCATATTGGCAACTCGGATCATGAGGCAGGGCTTGCCATTGTGGGAGGCCACAACTGCATGCTGGCTGAAACGAATGGTCTCAGCCCGCTTCTTGGGCCGGGCAATCTTCGCCAGGAAGGTACCTGTGATGAAGATTTCCAGGATGGTGGTGAGCACCAGCTGGGCAATAAGAAGCACAATGGCCAGTGGACATTCCTCACTGATGTAGCGGAAGCCATAGCCAATGGTGGTTTGGGATTCAAGGGAGAAGAGGAAGGCTCCAGTGAGTGTGTGCACCTGTACCACACAGGGGGTGTGGTTGGCCGGGGGGTCCAGCTCCAGCAGGTCCCCATGTGCCACAGCTACCAGATACCACACCACGCCAAAGAGGAACCATGTGCCTGCAAAGGTCGCAGAGAAGAGCAGAAGCTTGTAGCGCCACTGCATGTCAATGAAGGTTGTCCACAGGTCCTTGAGGTAGAGGAAGCGCTTGTCGGCAATGTGCTCCATTCTCACGTTGCTGCGACCATCTTTTGTCAGGACTCTCCGCCGTCGTATCCCTGGGCCCATTAGGGGCCGGCTTTCTGTCTGAGTGGTCTGACTGTAATACACCTTGGCAACTGACGTCATCTGGAGGGAGCAAGACAGCATAATGGAGGTTATCGTAGAAATCCAGCTGACTCCTAACCCTCACCCCATGGGAGGGAGGAATTAACATTCATTTGAATGTCGCTTATGTGTTCTTGTCTTACCAAATATTTATTGAGCACTTGCTATGTGCCAGGCACTGTGCAGGGGCCGAGGCGGGTGGATCGCCTGAGGTCAGGAGTTCAAGACCAGCCTGGCCAACAAGGCAAAACCCTGTCTCTACTAAAAATACAAAAATTAGCTGGGCATGGTGGCATGCGCCTGTAGTCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATCGCTTGAACCCGGGAGACAGAGGTTGCAGTGAGCCGACATCGCGCCACTGCACTCCAGCCTGGGTGACACAGCGAGACTCCGTCTCAAAAAAAAAAAAAAGTAAATAAAATAAAATAAAATAAAATGACATCATTCTGCTCTCCAAGAACTCACAGCCTAGTGAGAAAGATGCCTATTTAGTAAGCAAATAATTGCAACACAGTCTGATATTTGTAATTCTTAGCGGAAGAGAGGCAGAAAAGAAAGAGTAGTAGCTTCACATTCCTTGAAGGTGAGGGTGAGACTAATGAGAGCCTTCACCACAAAACCAGTCCTCCGAAGAGCTCTAATTTTGAAATAGGATCCATCCCCACCCTTATGAATGGCTATGAAGCAAGACAAGCTATCCTGTTGAAATCCTTCCAGGCCAATCCCCCTTAAAACACACACACACACACACACACACACACACACACACACACACAACCTTAATTTCTTCATTCTCTGCTCTACCCCCAAGCCAATACCCACTGGTGATACTAAGATACTCATCTGGTTCAGAGAATAGCAGAAACTACCCATTCTTTTACCCTTCAAGATGCTCCCTAAGCACCCAGACCATTTCATTTTTTATCATCATCATCATCATCTGTTTGCATCATCTGGGGAAATTTGGTCTGAGTTAGAGTCTAGGGCAGTGTTAGGAAGAGTACAGATGGGACTTGAACAAAAGGAAATAAGCAGTGGTGGAGGAGAAACAACATGTTAAAACTTCCTGGAAGCACTGGGACATTTTCTGAAGGACTGGCAGAAATGCCAGATTGTGGGTGGCAAAATTGTTTTGACAGAATGAAGTAGAAGAGCTAGGGGTGTATATTAACTAGCAGCTATGTCTGCACAGGCTCAAATTCAGTATTGCTATTTGTTCTGATAGCAGAAAGTGGGGCAAGCCACTGAAATAGGAGACAATTCACTTAATACAAGGTGCCTGGCACCCTTGCCCAAGCAGTAACTTGTACTTTTCCAGCACAGAAAGAATTTTAATCACTTGAGCCCTTGGACCCTGGATCTGATAGCCAGATCTTCTGTGGAGCAGGGTGATCTCTGGGGAGTTTAGCCCTTCTTGGAGAGGCTCATTACATTCTCCATTCGAAAAAGTCTGAACCATTGCATTTTATGATTCTTCACACTGCCCACCCCACCCCCCATCTCTATTTTCCCCATGGCCTTGTCCCTGGAAAACTTCAAATCTTTTGGGCCTGACCATATGCCCAACCAGGTAGGCACTGAATTGGAGATCACCAATGGATGAGAACCCTGAGAATGTTCAGAGGCAACAAGGATGCCCAATTTACCAGCCCTGTGTCACAGGCCATTTGGAACTTCCGTTCATGCAAGACTGTTCAACCAGACCTGGATGTCATTCACTCCCCTATATCCTTGGCTGCTTTGGAACAAAAAGGAAGCTCTGCAACTCTGAAGTTTGAAGAATTTGTATTTCAAGCCTAAACAAAGCCCTATTTAGTACTCAGTAGTAGTAATAATAACATAACAAC
CCATCCCTCATGGTGGGATTGTGTTAACTTTCTGGGGAATCTGTGCCCTGTGAATCTAGTTTTACTTGAGCATCCGTGTTAAGAGAGGAAGGCCCTTGCATTTTCCCTCCCTTCTCCCAAAGAGTTGGGGTTAAGGAAGAAGGATCTAGGCTGAGCAGGAAAGGAAGAAGAGAAGCCAGGTACAGTGTAATCTGGAATATTATTTTCAGACCTTTCCATGGGGCCTGGGTACTGGACTCTTTTCAAAGGAACATATTGGCTTGGGTCCTTCCATTCACAGGACACAGGGAAACAGATCTTCTCTGGGCTGCCTGGAAGATAGGTTTAAAGGTTTAGATAACAACTTGTGTTAGTCACTCCAAATTGAAGAGTTCAGAATCCAGGATAGATATGGGTGGTTATATGTTTATGTTTCTTGGGCCAACTCCAATTCTCTGAGAACAGAGGCTATGAGGGAACTGGGTATCCTGAGAGTGTTCACTTGAGAAACTACAGAGGGAAAACAGTGGCGACCATGGTTCTAGCTTATGGTCAGAAGTCACCAGCAGAAATCAAGCTTCACAGTGGCAAACCCTGGCTTCTTTCAACAGAGATTGGTAGAAACCCTAGGATATGTTGATATCAGATTCCTGTATTTCTGAAAGCACAGACCACAAAGTGACCATCAGAGAGAGTCTTGCCTTTGGGAACTTGCTAGATGGAAAGGTAACAGAGGGAGCTCCAGCCTCAAGTCACCAAACTTCATGGTGGTGGTGGGAGGTAGGGGGCAGTCTATCCTTCCAACCACATGGTCCTCCTAATGTGAGTATCCAAGCATGGCTGAGGCCTTCTAAGCCACTTCAGCCTAATCCCACTCTTTCCCCCATCCTGGCTTAAGGGAGGTATGTGTATTGGGGCAGAAGCTGGGGAAGTGGAAAGGGGACAGTGGGAGGCGAACCTGGACTCCAGTTGGCCTAAGCTACCAACAGGCCACTGGGTTAAAGAAGAGGGAGTGGAGGATGGGTGCTTCGGGGGATCTCCAGTAAACCCGGGTAGTATTCCTTACCAGGGCATTGGAAGAGAGGAAAAGAGACCAGAGGAATGGGGGAGTGGGAACAGGTCATCAGACATTGCTGATGCGCACACTAAGGGCACTGCCCTCCTTCTCAGCTTGCTCCCTTAATGACTCCTCCAACTTGAGCTTTTCAGGGTCTCCGTAGCGTACAGTGCTGTCACGGAGGCCACTAGGAGAGGCCACTTTCACAACTTGGTCAAAAAGGCTAAAGTCAGCTATGTATTTACCACTGGCTGACAGTGAGATGGCAGGTGTGAACTCGTAGCCCCAAAGGATCTCCTCTGGCAGGTAGGAAGTGCGCACCTGACAGGTGGCACTGGTGGACTCCACTGTCCCACTTAGGATCAGCACCAGCTCAAAGTCACCCTCACCACTGCGAAGAGGGAGATCTTTCAAGGGACTGGTCTCATCTACCACATGATAGAAGGTAAGGGGTAGAATAAGGAAGGGGCTGTCAGAGGCTGTGTCTACTTGGAAAGTCACATTGACCTGGTTGAGCCGGATGTTCTCCCCTTCCTTGGTTTGGTGGGTCTGAAGCAGTTTTCCTGTCACCTGGCAGCCAATGAGGAGGCTTTTGCGCATATTGGCAACTCGGATCATGAGGCAGGGCTTGCCATTGTGGGAGGCCACAACTGCATGCTGGCTGAAACGAATGGTCTCAGCCCGCTTCTTGGGCCGGGCAATCTTCGCCAGGAAGGTACCTGTGATGAAGATTTCCAGGATGGTGGTGAGCACCAGCTGGGCAATAAGAAGCACAATGGCCAGTGGACATTCCTCACTGATGTAGCGGAAGCCATAGCCAATGGTGGTTTGGGATTCAAGGGAGAAGAGGAAGGCTCCAGTGAGTGTGTGCACCTGTACCACACAGGGGGTGTGGTTGGCCGGGGGGTCCAGCTCCAGCAGGTCCCCATGTGCCACAGCTACCAGATACCACACCACGCCAAAGAGGAACCATGTGCCTGCAAAGGTCGCAGAGAAGAGCAGAAGCTTGTAGGGCCACTGCATGTCAATGAAGGTTGTCCACAGGTCCTTGAGGTAGAGGAAGCGCTTGTCGGCAATGTGCTCCATTCTCACGTTGCTGCGACCATCTTTTGTCAGGACTCTCCGCCGTCGTATCCCTGGGCCCATTAGGGGCCGGCTTTCTGTCTGAGTGGTCTGACTGTAATACACCTTGGCAACTGACGTCATCTGGAGGGAGCAAGACAGCATAATGGAGGTTATCGTAGAAATCCAGCTGACTCCTAACCCTCACCCCATGGGAGGGAGGAATTAACATTCATTTGAATGTCGCTTATGTGTTCTTGTCTTACCAAATATTTATTGAGCACTTGCTATGTGCCAGGCACTGTGCAGGGGCCGAGGCGGGTGGATCGCCTGAGGTCAGGAGTTCAAGACCAGCCTGGCCAACAAGGCAAAACCCTGTCTCTACTAAAAATACAAAAATTAGCTGGGCATGGTGGCATGCGCCTGTAGTCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATCGCTTGAACCCGGGAGACAGAGGTTGCAGTGAGCCGACATCGCGCCACTGCACTCCAGCCTGGGTGACACAGCGAGACTCCGTCTCAAAAAAAAAAAAAAGTAAATAAAATAAAATAAAATAAAATGACATCATTCTGCTCTCCAAGAACTCACAGCCTAGTGAGAAAGATGCCTATTTAGTAAGCAAATAATTGCAACACAGTCTGATATTTGTAATTCTTAGCGGAAGAGAGGCAGAAAAGAAAGAGTAGTAGCTTCACATTCCTTGAAGGTGAGGGTGAGACTAATGAGAGCCTTCACCACAAAACCAGTCCTCCGAAGAGCTCTAATTTTGAAATAGGATCCATCCCCACCCTTATGAATGGCTATGAAGCAAGACAAGCTATCCTGTTGAAATCCTTCCAGGCCAATCCCCCTTAAAACACACACACACACACACACACACACACACACACACACACACAACCTTAATTTCTTCATTCTCTGCTCTACCCCCAAGCCAATACCCACTGGTGATACTAAGATACTCATCTGGTTCAGAGAATAGCAGAAACTACCCATTCTTTTACCCTTCAAGATGCTCCCTAAGCACCCAGACCATTTCATTTTTTATCATCATCATCATCATCTGTTTGCATCATCTGGGGAAATTTGGTCTGAGTTAGAGTCTAGGGCAGTGTTAGGAAGAGTACAGATGGGACTTGAACAAAAGGAAATAAGCAGTGGTGGAGGAGAAACAACATGTTAAAACTTCCTGGAAGCACTGGGACATTTTCTGAAGGACTGGCAGAAATGCCAGATTGTGGGTGGCAAAATTGTTTTGACAGAATGAAGTAGAAGAGCTAGGGGTGTATATTAACTAGCAGCTATGTCTGCACAGGCTCAAATTCAGTATTGCTATTTGTTCTGATAGCAGAAAGTGGGGCAAGCCACTGAAATAGGAGACAATTCACTTAATACAAGGTGCCTGGCACCCTTGCCCAAGCAGTAACTTGTACTTTTCCAGCACAGAAAGAATTTTAATCACTTGAGCCCTTGGACCCTGGATCTGATAGCCAGATCTTCTGTGGAGCAGGGTGATCTCTGGGGAGTTTAGCCCTTCTTGGAGAGGCTCATTACATTCTCCATTCGAAAAAGTCTGAACCATTGCATTTTATGATTCTTCACACTGCCCACCCCACCCCCCATCTCTATTTTCCCCATGGCCTTGTCCCTGGAAAACTTCAAATCTTTTGGGCCTGACCATATGCCCAACCAGGTAGGCACTGAATTGGAGATCACCAATGGATGAGAACCCTGAGAATGTTCAGAGGCAACAAGGATGCCCAATTTACCAGCCCTGTGTCACAGGCCATTTGGAACTTCCGTTCATGCAAGACTGTTCAACCAGACCTGGATGTCATTCACTCCCCTATATCCTTGGCTGCTTTGGAACAAAAAGGAAGCTCTGCAACTCTGAAGTTTGAAGAATTTGTATTTCAAGCCTAAACAAAGCCCTATTTAGTACTCAGTAGTAGTAATAATAACATAACAAC
Task1_train_1923
This mutation occurs in KCNJ10 (potassium inwardly rectifying channel subfamily J member 10) on Chromosome 1. Does this change lead to a known medical condition, or is it benign?
Pathogenic; Microcephaly
CCATCCCTCATGGTGGGATTGTGTTAACTTTCTGGGGAATCTGTGCCCTGTGAATCTAGTTTTACTTGAGCATCCGTGTTAAGAGAGGAAGGCCCTTGCATTTTCCCTCCCTTCTCCCAAAGAGTTGGGGTTAAGGAAGAAGGATCTAGGCTGAGCAGGAAAGGAAGAAGAGAAGCCAGGTACAGTGTAATCTGGAATATTATTTTCAGACCTTTCCATGGGGCCTGGGTACTGGACTCTTTTCAAAGGAACATATTGGCTTGGGTCCTTCCATTCACAGGACACAGGGAAACAGATCTTCTCTGGGCTGCCTGGAAGATAGGTTTAAAGGTTTAGATAACAACTTGTGTTAGTCACTCCAAATTGAAGAGTTCAGAATCCAGGATAGATATGGGTGGTTATATGTTTATGTTTCTTGGGCCAACTCCAATTCTCTGAGAACAGAGGCTATGAGGGAACTGGGTATCCTGAGAGTGTTCACTTGAGAAACTACAGAGGGAAAACAGTGGCGACCATGGTTCTAGCTTATGGTCAGAAGTCACCAGCAGAAATCAAGCTTCACAGTGGCAAACCCTGGCTTCTTTCAACAGAGATTGGTAGAAACCCTAGGATATGTTGATATCAGATTCCTGTATTTCTGAAAGCACAGACCACAAAGTGACCATCAGAGAGAGTCTTGCCTTTGGGAACTTGCTAGATGGAAAGGTAACAGAGGGAGCTCCAGCCTCAAGTCACCAAACTTCATGGTGGTGGTGGGAGGTAGGGGGCAGTCTATCCTTCCAACCACATGGTCCTCCTAATGTGAGTATCCAAGCATGGCTGAGGCCTTCTAAGCCACTTCAGCCTAATCCCACTCTTTCCCCCATCCTGGCTTAAGGGAGGTATGTGTATTGGGGCAGAAGCTGGGGAAGTGGAAAGGGGACAGTGGGAGGCGAACCTGGACTCCAGTTGGCCTAAGCTACCAACAGGCCACTGGGTTAAAGAAGAGGGAGTGGAGGATGGGTGCTTCGGGGGATCTCCAGTAAACCCGGGTAGTATTCCTTACCAGGGCATTGGAAGAGAGGAAAAGAGACCAGAGGAATGGGGGAGTGGGAACAGGTCATCAGACATTGCTGATGCGCACACTAAGGGCACTGCCCTCCTTCTCAGCTTGCTCCCTTAATGACTCCTCCAACTTGAGCTTTTCAGGGTCTCCGTAGCGTACAGTGCTGTCACGGAGGCCACTAGGAGAGGCCACTTTCACAACTTGGTCAAAAAGGCTAAAGTCAGCTATGTATTTACCACTGGCTGACAGTGAGATGGCAGGTGTGAACTCGTAGCCCCAAAGGATCTCCTCTGGCAGGTAGGAAGTGCGCACCTGACAGGTGGCACTGGTGGACTCCACTGTCCCACTTAGGATCAGCACCAGCTCAAAGTCACCCTCACCACTGCGAAGAGGGAGATCTTTCAAGGGACTGGTCTCATCTACCACATGATAGAAGGTAAGGGGTAGAATAAGGAAGGGGCTGTCAGAGGCTGTGTCTACTTGGAAAGTCACATTGACCTGGTTGAGCCGGATGTTCTCCCCTTCCTTGGTTTGGTGGGTCTGAAGCAGTTTTCCTGTCACCTGGCAGCCAATGAGGAGGCTTTTGCGCATATTGGCAACTCGGATCATGAGGCAGGGCTTGCCATTGTGGGAGGCCACAACTGCATGCTGGCTGAAACGAATGGTCTCAGCCCGCTTCTTGGGCCGGGCAATCTTCGCCAGGAAGGTACCTGTGATGAAGATTTCCAGGATGGTGGTGAGCACCAGCTGGGCAATAAGAAGCACAATGGCCAGTGGACATTCCTCACTGATGTAGCGGAAGCCATAGCCAATGGTGGTTTGGGATTCAAGGGAGAAGAGGAAGGCTCCAGTGAGTGTGTGCACCTGTACCACACAGGGGGTGTGGTTGGCCGGGGGGTCCAGCTCCAGCAGGTCCCCATGTGCCACAGCTACCAGATACCACACCACGCCAAAGAGGAACCATGTGCCTGCAAAGGTCGCAGAGAAGAGCAGAAGCTTGTAGCGCCACTGCATGTCAATGAAGGTTGTCCACAGGTCCTTGAGGTAGAGGAAGCGCTTGTCGGCAATGTGCTCCATTCTCACGTTGCTGCGACCATCTTTTGTCAGGACTCTCCGCCGTCGTATCCCTGGGCCCATTAGGGGCCGGCTTTCTGTCTGAGTGGTCTGACTGTAATACACCTTGGCAACTGACGTCATCTGGAGGGAGCAAGACAGCATAATGGAGGTTATCGTAGAAATCCAGCTGACTCCTAACCCTCACCCCATGGGAGGGAGGAATTAACATTCATTTGAATGTCGCTTATGTGTTCTTGTCTTACCAAATATTTATTGAGCACTTGCTATGTGCCAGGCACTGTGCAGGGGCCGAGGCGGGTGGATCGCCTGAGGTCAGGAGTTCAAGACCAGCCTGGCCAACAAGGCAAAACCCTGTCTCTACTAAAAATACAAAAATTAGCTGGGCATGGTGGCATGCGCCTGTAGTCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATCGCTTGAACCCGGGAGACAGAGGTTGCAGTGAGCCGACATCGCGCCACTGCACTCCAGCCTGGGTGACACAGCGAGACTCCGTCTCAAAAAAAAAAAAAAGTAAATAAAATAAAATAAAATAAAATGACATCATTCTGCTCTCCAAGAACTCACAGCCTAGTGAGAAAGATGCCTATTTAGTAAGCAAATAATTGCAACACAGTCTGATATTTGTAATTCTTAGCGGAAGAGAGGCAGAAAAGAAAGAGTAGTAGCTTCACATTCCTTGAAGGTGAGGGTGAGACTAATGAGAGCCTTCACCACAAAACCAGTCCTCCGAAGAGCTCTAATTTTGAAATAGGATCCATCCCCACCCTTATGAATGGCTATGAAGCAAGACAAGCTATCCTGTTGAAATCCTTCCAGGCCAATCCCCCTTAAAACACACACACACACACACACACACACACACACACACACACACAACCTTAATTTCTTCATTCTCTGCTCTACCCCCAAGCCAATACCCACTGGTGATACTAAGATACTCATCTGGTTCAGAGAATAGCAGAAACTACCCATTCTTTTACCCTTCAAGATGCTCCCTAAGCACCCAGACCATTTCATTTTTTATCATCATCATCATCATCTGTTTGCATCATCTGGGGAAATTTGGTCTGAGTTAGAGTCTAGGGCAGTGTTAGGAAGAGTACAGATGGGACTTGAACAAAAGGAAATAAGCAGTGGTGGAGGAGAAACAACATGTTAAAACTTCCTGGAAGCACTGGGACATTTTCTGAAGGACTGGCAGAAATGCCAGATTGTGGGTGGCAAAATTGTTTTGACAGAATGAAGTAGAAGAGCTAGGGGTGTATATTAACTAGCAGCTATGTCTGCACAGGCTCAAATTCAGTATTGCTATTTGTTCTGATAGCAGAAAGTGGGGCAAGCCACTGAAATAGGAGACAATTCACTTAATACAAGGTGCCTGGCACCCTTGCCCAAGCAGTAACTTGTACTTTTCCAGCACAGAAAGAATTTTAATCACTTGAGCCCTTGGACCCTGGATCTGATAGCCAGATCTTCTGTGGAGCAGGGTGATCTCTGGGGAGTTTAGCCCTTCTTGGAGAGGCTCATTACATTCTCCATTCGAAAAAGTCTGAACCATTGCATTTTATGATTCTTCACACTGCCCACCCCACCCCCCATCTCTATTTTCCCCATGGCCTTGTCCCTGGAAAACTTCAAATCTTTTGGGCCTGACCATATGCCCAACCAGGTAGGCACTGAATTGGAGATCACCAATGGATGAGAACCCTGAGAATGTTCAGAGGCAACAAGGATGCCCAATTTACCAGCCCTGTGTCACAGGCCATTTGGAACTTCCGTTCATGCAAGACTGTTCAACCAGACCTGGATGTCATTCACTCCCCTATATCCTTGGCTGCTTTGGAACAAAAAGGAAGCTCTGCAACTCTGAAGTTTGAAGAATTTGTATTTCAAGCCTAAACAAAGCCCTATTTAGTACTCAGTAGTAGTAATAATAACATAACAAC
CCATCCCTCATGGTGGGATTGTGTTAACTTTCTGGGGAATCTGTGCCCTGTGAATCTAGTTTTACTTGAGCATCCGTGTTAAGAGAGGAAGGCCCTTGCATTTTCCCTCCCTTCTCCCAAAGAGTTGGGGTTAAGGAAGAAGGATCTAGGCTGAGCAGGAAAGGAAGAAGAGAAGCCAGGTACAGTGTAATCTGGAATATTATTTTCAGACCTTTCCATGGGGCCTGGGTACTGGACTCTTTTCAAAGGAACATATTGGCTTGGGTCCTTCCATTCACAGGACACAGGGAAACAGATCTTCTCTGGGCTGCCTGGAAGATAGGTTTAAAGGTTTAGATAACAACTTGTGTTAGTCACTCCAAATTGAAGAGTTCAGAATCCAGGATAGATATGGGTGGTTATATGTTTATGTTTCTTGGGCCAACTCCAATTCTCTGAGAACAGAGGCTATGAGGGAACTGGGTATCCTGAGAGTGTTCACTTGAGAAACTACAGAGGGAAAACAGTGGCGACCATGGTTCTAGCTTATGGTCAGAAGTCACCAGCAGAAATCAAGCTTCACAGTGGCAAACCCTGGCTTCTTTCAACAGAGATTGGTAGAAACCCTAGGATATGTTGATATCAGATTCCTGTATTTCTGAAAGCACAGACCACAAAGTGACCATCAGAGAGAGTCTTGCCTTTGGGAACTTGCTAGATGGAAAGGTAACAGAGGGAGCTCCAGCCTCAAGTCACCAAACTTCATGGTGGTGGTGGGAGGTAGGGGGCAGTCTATCCTTCCAACCACATGGTCCTCCTAATGTGAGTATCCAAGCATGGCTGAGGCCTTCTAAGCCACTTCAGCCTAATCCCACTCTTTCCCCCATCCTGGCTTAAGGGAGGTATGTGTATTGGGGCAGAAGCTGGGGAAGTGGAAAGGGGACAGTGGGAGGCGAACCTGGACTCCAGTTGGCCTAAGCTACCAACAGGCCACTGGGTTAAAGAAGAGGGAGTGGAGGATGGGTGCTTCGGGGGATCTCCAGTAAACCCGGGTAGTATTCCTTACCAGGGCATTGGAAGAGAGGAAAAGAGACCAGAGGAATGGGGGAGTGGGAACAGGTCATCAGACATTGCTGATGCGCACACTAAGGGCACTGCCCTCCTTCTCAGCTTGCTCCCTTAATGACTCCTCCAACTTGAGCTTTTCAGGGTCTCCGTAGCGTACAGTGCTGTCACGGAGGCCACTAGGAGAGGCCACTTTCACAACTTGGTCAAAAAGGCTAAAGTCAGCTATGTATTTACCACTGGCTGACAGTGAGATGGCAGGTGTGAACTCGTAGCCCCAAAGGATCTCCTCTGGCAGGTAGGAAGTGCGCACCTGACAGGTGGCACTGGTGGACTCCACTGTCCCACTTAGGATCAGCACCAGCTCAAAGTCACCCTCACCACTGCGAAGAGGGAGATCTTTCAAGGGACTGGTCTCATCTACCACATGATAGAAGGTAAGGGGTAGAATAAGGAAGGGGCTGTCAGAGGCTGTGTCTACTTGGAAAGTCACATTGACCTGGTTGAGCCGGATGTTCTCCCCTTCCTTGGTTTGGTGGGTCTGAAGCAGTTTTCCTGTCACCTGGCAGCCAATGAGGAGGCTTTTGCGCATATTGGCAACTCGGATCATGAGGCAGGGCTTGCCATTGTGGGAGGCCACAACTGCATGCTGGCTGAAACGAATGGTCTCAGCCCGCTTCTTGGGCCGGGCAATCTTCGCCAGGAAGGTACCTGTGATGAAGATTTCCAGGATGGTGGTGAGCACCAGCTGGGCAATAAGAAGCACAATGGCCAGTGGACATTCCTCACTGATGTAGCGGAAGCCATAGCCAATGGTGGTTTGGGATTCAAGGGAGAAGAGGAAGGCTCCAGTGAGTGTGTGCACCTGTACCACACAGGGGGTGTGGTTGGCCGGGGGGTCCAGCTCCAGCAGGTCCCCATGTGCCACAGCTACCAGATACCACACCACGCCAAAGAGGAACCATGTGCCTGCAAAGGTCGCAGAGAAGAGCAGAAGCTTGTAGGGCCACTGCATGTCAATGAAGGTTGTCCACAGGTCCTTGAGGTAGAGGAAGCGCTTGTCGGCAATGTGCTCCATTCTCACGTTGCTGCGACCATCTTTTGTCAGGACTCTCCGCCGTCGTATCCCTGGGCCCATTAGGGGCCGGCTTTCTGTCTGAGTGGTCTGACTGTAATACACCTTGGCAACTGACGTCATCTGGAGGGAGCAAGACAGCATAATGGAGGTTATCGTAGAAATCCAGCTGACTCCTAACCCTCACCCCATGGGAGGGAGGAATTAACATTCATTTGAATGTCGCTTATGTGTTCTTGTCTTACCAAATATTTATTGAGCACTTGCTATGTGCCAGGCACTGTGCAGGGGCCGAGGCGGGTGGATCGCCTGAGGTCAGGAGTTCAAGACCAGCCTGGCCAACAAGGCAAAACCCTGTCTCTACTAAAAATACAAAAATTAGCTGGGCATGGTGGCATGCGCCTGTAGTCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATCGCTTGAACCCGGGAGACAGAGGTTGCAGTGAGCCGACATCGCGCCACTGCACTCCAGCCTGGGTGACACAGCGAGACTCCGTCTCAAAAAAAAAAAAAAGTAAATAAAATAAAATAAAATAAAATGACATCATTCTGCTCTCCAAGAACTCACAGCCTAGTGAGAAAGATGCCTATTTAGTAAGCAAATAATTGCAACACAGTCTGATATTTGTAATTCTTAGCGGAAGAGAGGCAGAAAAGAAAGAGTAGTAGCTTCACATTCCTTGAAGGTGAGGGTGAGACTAATGAGAGCCTTCACCACAAAACCAGTCCTCCGAAGAGCTCTAATTTTGAAATAGGATCCATCCCCACCCTTATGAATGGCTATGAAGCAAGACAAGCTATCCTGTTGAAATCCTTCCAGGCCAATCCCCCTTAAAACACACACACACACACACACACACACACACACACACACACACAACCTTAATTTCTTCATTCTCTGCTCTACCCCCAAGCCAATACCCACTGGTGATACTAAGATACTCATCTGGTTCAGAGAATAGCAGAAACTACCCATTCTTTTACCCTTCAAGATGCTCCCTAAGCACCCAGACCATTTCATTTTTTATCATCATCATCATCATCTGTTTGCATCATCTGGGGAAATTTGGTCTGAGTTAGAGTCTAGGGCAGTGTTAGGAAGAGTACAGATGGGACTTGAACAAAAGGAAATAAGCAGTGGTGGAGGAGAAACAACATGTTAAAACTTCCTGGAAGCACTGGGACATTTTCTGAAGGACTGGCAGAAATGCCAGATTGTGGGTGGCAAAATTGTTTTGACAGAATGAAGTAGAAGAGCTAGGGGTGTATATTAACTAGCAGCTATGTCTGCACAGGCTCAAATTCAGTATTGCTATTTGTTCTGATAGCAGAAAGTGGGGCAAGCCACTGAAATAGGAGACAATTCACTTAATACAAGGTGCCTGGCACCCTTGCCCAAGCAGTAACTTGTACTTTTCCAGCACAGAAAGAATTTTAATCACTTGAGCCCTTGGACCCTGGATCTGATAGCCAGATCTTCTGTGGAGCAGGGTGATCTCTGGGGAGTTTAGCCCTTCTTGGAGAGGCTCATTACATTCTCCATTCGAAAAAGTCTGAACCATTGCATTTTATGATTCTTCACACTGCCCACCCCACCCCCCATCTCTATTTTCCCCATGGCCTTGTCCCTGGAAAACTTCAAATCTTTTGGGCCTGACCATATGCCCAACCAGGTAGGCACTGAATTGGAGATCACCAATGGATGAGAACCCTGAGAATGTTCAGAGGCAACAAGGATGCCCAATTTACCAGCCCTGTGTCACAGGCCATTTGGAACTTCCGTTCATGCAAGACTGTTCAACCAGACCTGGATGTCATTCACTCCCCTATATCCTTGGCTGCTTTGGAACAAAAAGGAAGCTCTGCAACTCTGAAGTTTGAAGAATTTGTATTTCAAGCCTAAACAAAGCCCTATTTAGTACTCAGTAGTAGTAATAATAACATAACAAC
Task1_train_1924
This sequence change occurs on Chromosome 1, altering KCNJ10 (potassium inwardly rectifying channel subfamily J member 10). What is the medical significance of this variant — is it benign or linked to a disease?
Pathogenic; Spastic diplegia
CCATCCCTCATGGTGGGATTGTGTTAACTTTCTGGGGAATCTGTGCCCTGTGAATCTAGTTTTACTTGAGCATCCGTGTTAAGAGAGGAAGGCCCTTGCATTTTCCCTCCCTTCTCCCAAAGAGTTGGGGTTAAGGAAGAAGGATCTAGGCTGAGCAGGAAAGGAAGAAGAGAAGCCAGGTACAGTGTAATCTGGAATATTATTTTCAGACCTTTCCATGGGGCCTGGGTACTGGACTCTTTTCAAAGGAACATATTGGCTTGGGTCCTTCCATTCACAGGACACAGGGAAACAGATCTTCTCTGGGCTGCCTGGAAGATAGGTTTAAAGGTTTAGATAACAACTTGTGTTAGTCACTCCAAATTGAAGAGTTCAGAATCCAGGATAGATATGGGTGGTTATATGTTTATGTTTCTTGGGCCAACTCCAATTCTCTGAGAACAGAGGCTATGAGGGAACTGGGTATCCTGAGAGTGTTCACTTGAGAAACTACAGAGGGAAAACAGTGGCGACCATGGTTCTAGCTTATGGTCAGAAGTCACCAGCAGAAATCAAGCTTCACAGTGGCAAACCCTGGCTTCTTTCAACAGAGATTGGTAGAAACCCTAGGATATGTTGATATCAGATTCCTGTATTTCTGAAAGCACAGACCACAAAGTGACCATCAGAGAGAGTCTTGCCTTTGGGAACTTGCTAGATGGAAAGGTAACAGAGGGAGCTCCAGCCTCAAGTCACCAAACTTCATGGTGGTGGTGGGAGGTAGGGGGCAGTCTATCCTTCCAACCACATGGTCCTCCTAATGTGAGTATCCAAGCATGGCTGAGGCCTTCTAAGCCACTTCAGCCTAATCCCACTCTTTCCCCCATCCTGGCTTAAGGGAGGTATGTGTATTGGGGCAGAAGCTGGGGAAGTGGAAAGGGGACAGTGGGAGGCGAACCTGGACTCCAGTTGGCCTAAGCTACCAACAGGCCACTGGGTTAAAGAAGAGGGAGTGGAGGATGGGTGCTTCGGGGGATCTCCAGTAAACCCGGGTAGTATTCCTTACCAGGGCATTGGAAGAGAGGAAAAGAGACCAGAGGAATGGGGGAGTGGGAACAGGTCATCAGACATTGCTGATGCGCACACTAAGGGCACTGCCCTCCTTCTCAGCTTGCTCCCTTAATGACTCCTCCAACTTGAGCTTTTCAGGGTCTCCGTAGCGTACAGTGCTGTCACGGAGGCCACTAGGAGAGGCCACTTTCACAACTTGGTCAAAAAGGCTAAAGTCAGCTATGTATTTACCACTGGCTGACAGTGAGATGGCAGGTGTGAACTCGTAGCCCCAAAGGATCTCCTCTGGCAGGTAGGAAGTGCGCACCTGACAGGTGGCACTGGTGGACTCCACTGTCCCACTTAGGATCAGCACCAGCTCAAAGTCACCCTCACCACTGCGAAGAGGGAGATCTTTCAAGGGACTGGTCTCATCTACCACATGATAGAAGGTAAGGGGTAGAATAAGGAAGGGGCTGTCAGAGGCTGTGTCTACTTGGAAAGTCACATTGACCTGGTTGAGCCGGATGTTCTCCCCTTCCTTGGTTTGGTGGGTCTGAAGCAGTTTTCCTGTCACCTGGCAGCCAATGAGGAGGCTTTTGCGCATATTGGCAACTCGGATCATGAGGCAGGGCTTGCCATTGTGGGAGGCCACAACTGCATGCTGGCTGAAACGAATGGTCTCAGCCCGCTTCTTGGGCCGGGCAATCTTCGCCAGGAAGGTACCTGTGATGAAGATTTCCAGGATGGTGGTGAGCACCAGCTGGGCAATAAGAAGCACAATGGCCAGTGGACATTCCTCACTGATGTAGCGGAAGCCATAGCCAATGGTGGTTTGGGATTCAAGGGAGAAGAGGAAGGCTCCAGTGAGTGTGTGCACCTGTACCACACAGGGGGTGTGGTTGGCCGGGGGGTCCAGCTCCAGCAGGTCCCCATGTGCCACAGCTACCAGATACCACACCACGCCAAAGAGGAACCATGTGCCTGCAAAGGTCGCAGAGAAGAGCAGAAGCTTGTAGCGCCACTGCATGTCAATGAAGGTTGTCCACAGGTCCTTGAGGTAGAGGAAGCGCTTGTCGGCAATGTGCTCCATTCTCACGTTGCTGCGACCATCTTTTGTCAGGACTCTCCGCCGTCGTATCCCTGGGCCCATTAGGGGCCGGCTTTCTGTCTGAGTGGTCTGACTGTAATACACCTTGGCAACTGACGTCATCTGGAGGGAGCAAGACAGCATAATGGAGGTTATCGTAGAAATCCAGCTGACTCCTAACCCTCACCCCATGGGAGGGAGGAATTAACATTCATTTGAATGTCGCTTATGTGTTCTTGTCTTACCAAATATTTATTGAGCACTTGCTATGTGCCAGGCACTGTGCAGGGGCCGAGGCGGGTGGATCGCCTGAGGTCAGGAGTTCAAGACCAGCCTGGCCAACAAGGCAAAACCCTGTCTCTACTAAAAATACAAAAATTAGCTGGGCATGGTGGCATGCGCCTGTAGTCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATCGCTTGAACCCGGGAGACAGAGGTTGCAGTGAGCCGACATCGCGCCACTGCACTCCAGCCTGGGTGACACAGCGAGACTCCGTCTCAAAAAAAAAAAAAAGTAAATAAAATAAAATAAAATAAAATGACATCATTCTGCTCTCCAAGAACTCACAGCCTAGTGAGAAAGATGCCTATTTAGTAAGCAAATAATTGCAACACAGTCTGATATTTGTAATTCTTAGCGGAAGAGAGGCAGAAAAGAAAGAGTAGTAGCTTCACATTCCTTGAAGGTGAGGGTGAGACTAATGAGAGCCTTCACCACAAAACCAGTCCTCCGAAGAGCTCTAATTTTGAAATAGGATCCATCCCCACCCTTATGAATGGCTATGAAGCAAGACAAGCTATCCTGTTGAAATCCTTCCAGGCCAATCCCCCTTAAAACACACACACACACACACACACACACACACACACACACACACAACCTTAATTTCTTCATTCTCTGCTCTACCCCCAAGCCAATACCCACTGGTGATACTAAGATACTCATCTGGTTCAGAGAATAGCAGAAACTACCCATTCTTTTACCCTTCAAGATGCTCCCTAAGCACCCAGACCATTTCATTTTTTATCATCATCATCATCATCTGTTTGCATCATCTGGGGAAATTTGGTCTGAGTTAGAGTCTAGGGCAGTGTTAGGAAGAGTACAGATGGGACTTGAACAAAAGGAAATAAGCAGTGGTGGAGGAGAAACAACATGTTAAAACTTCCTGGAAGCACTGGGACATTTTCTGAAGGACTGGCAGAAATGCCAGATTGTGGGTGGCAAAATTGTTTTGACAGAATGAAGTAGAAGAGCTAGGGGTGTATATTAACTAGCAGCTATGTCTGCACAGGCTCAAATTCAGTATTGCTATTTGTTCTGATAGCAGAAAGTGGGGCAAGCCACTGAAATAGGAGACAATTCACTTAATACAAGGTGCCTGGCACCCTTGCCCAAGCAGTAACTTGTACTTTTCCAGCACAGAAAGAATTTTAATCACTTGAGCCCTTGGACCCTGGATCTGATAGCCAGATCTTCTGTGGAGCAGGGTGATCTCTGGGGAGTTTAGCCCTTCTTGGAGAGGCTCATTACATTCTCCATTCGAAAAAGTCTGAACCATTGCATTTTATGATTCTTCACACTGCCCACCCCACCCCCCATCTCTATTTTCCCCATGGCCTTGTCCCTGGAAAACTTCAAATCTTTTGGGCCTGACCATATGCCCAACCAGGTAGGCACTGAATTGGAGATCACCAATGGATGAGAACCCTGAGAATGTTCAGAGGCAACAAGGATGCCCAATTTACCAGCCCTGTGTCACAGGCCATTTGGAACTTCCGTTCATGCAAGACTGTTCAACCAGACCTGGATGTCATTCACTCCCCTATATCCTTGGCTGCTTTGGAACAAAAAGGAAGCTCTGCAACTCTGAAGTTTGAAGAATTTGTATTTCAAGCCTAAACAAAGCCCTATTTAGTACTCAGTAGTAGTAATAATAACATAACAAC
CCATCCCTCATGGTGGGATTGTGTTAACTTTCTGGGGAATCTGTGCCCTGTGAATCTAGTTTTACTTGAGCATCCGTGTTAAGAGAGGAAGGCCCTTGCATTTTCCCTCCCTTCTCCCAAAGAGTTGGGGTTAAGGAAGAAGGATCTAGGCTGAGCAGGAAAGGAAGAAGAGAAGCCAGGTACAGTGTAATCTGGAATATTATTTTCAGACCTTTCCATGGGGCCTGGGTACTGGACTCTTTTCAAAGGAACATATTGGCTTGGGTCCTTCCATTCACAGGACACAGGGAAACAGATCTTCTCTGGGCTGCCTGGAAGATAGGTTTAAAGGTTTAGATAACAACTTGTGTTAGTCACTCCAAATTGAAGAGTTCAGAATCCAGGATAGATATGGGTGGTTATATGTTTATGTTTCTTGGGCCAACTCCAATTCTCTGAGAACAGAGGCTATGAGGGAACTGGGTATCCTGAGAGTGTTCACTTGAGAAACTACAGAGGGAAAACAGTGGCGACCATGGTTCTAGCTTATGGTCAGAAGTCACCAGCAGAAATCAAGCTTCACAGTGGCAAACCCTGGCTTCTTTCAACAGAGATTGGTAGAAACCCTAGGATATGTTGATATCAGATTCCTGTATTTCTGAAAGCACAGACCACAAAGTGACCATCAGAGAGAGTCTTGCCTTTGGGAACTTGCTAGATGGAAAGGTAACAGAGGGAGCTCCAGCCTCAAGTCACCAAACTTCATGGTGGTGGTGGGAGGTAGGGGGCAGTCTATCCTTCCAACCACATGGTCCTCCTAATGTGAGTATCCAAGCATGGCTGAGGCCTTCTAAGCCACTTCAGCCTAATCCCACTCTTTCCCCCATCCTGGCTTAAGGGAGGTATGTGTATTGGGGCAGAAGCTGGGGAAGTGGAAAGGGGACAGTGGGAGGCGAACCTGGACTCCAGTTGGCCTAAGCTACCAACAGGCCACTGGGTTAAAGAAGAGGGAGTGGAGGATGGGTGCTTCGGGGGATCTCCAGTAAACCCGGGTAGTATTCCTTACCAGGGCATTGGAAGAGAGGAAAAGAGACCAGAGGAATGGGGGAGTGGGAACAGGTCATCAGACATTGCTGATGCGCACACTAAGGGCACTGCCCTCCTTCTCAGCTTGCTCCCTTAATGACTCCTCCAACTTGAGCTTTTCAGGGTCTCCGTAGCGTACAGTGCTGTCACGGAGGCCACTAGGAGAGGCCACTTTCACAACTTGGTCAAAAAGGCTAAAGTCAGCTATGTATTTACCACTGGCTGACAGTGAGATGGCAGGTGTGAACTCGTAGCCCCAAAGGATCTCCTCTGGCAGGTAGGAAGTGCGCACCTGACAGGTGGCACTGGTGGACTCCACTGTCCCACTTAGGATCAGCACCAGCTCAAAGTCACCCTCACCACTGCGAAGAGGGAGATCTTTCAAGGGACTGGTCTCATCTACCACATGATAGAAGGTAAGGGGTAGAATAAGGAAGGGGCTGTCAGAGGCTGTGTCTACTTGGAAAGTCACATTGACCTGGTTGAGCCGGATGTTCTCCCCTTCCTTGGTTTGGTGGGTCTGAAGCAGTTTTCCTGTCACCTGGCAGCCAATGAGGAGGCTTTTGCGCATATTGGCAACTCGGATCATGAGGCAGGGCTTGCCATTGTGGGAGGCCACAACTGCATGCTGGCTGAAACGAATGGTCTCAGCCCGCTTCTTGGGCCGGGCAATCTTCGCCAGGAAGGTACCTGTGATGAAGATTTCCAGGATGGTGGTGAGCACCAGCTGGGCAATAAGAAGCACAATGGCCAGTGGACATTCCTCACTGATGTAGCGGAAGCCATAGCCAATGGTGGTTTGGGATTCAAGGGAGAAGAGGAAGGCTCCAGTGAGTGTGTGCACCTGTACCACACAGGGGGTGTGGTTGGCCGGGGGGTCCAGCTCCAGCAGGTCCCCATGTGCCACAGCTACCAGATACCACACCACGCCAAAGAGGAACCATGTGCCTGCAAAGGTCGCAGAGAAGAGCAGAAGCTTGTAGGGCCACTGCATGTCAATGAAGGTTGTCCACAGGTCCTTGAGGTAGAGGAAGCGCTTGTCGGCAATGTGCTCCATTCTCACGTTGCTGCGACCATCTTTTGTCAGGACTCTCCGCCGTCGTATCCCTGGGCCCATTAGGGGCCGGCTTTCTGTCTGAGTGGTCTGACTGTAATACACCTTGGCAACTGACGTCATCTGGAGGGAGCAAGACAGCATAATGGAGGTTATCGTAGAAATCCAGCTGACTCCTAACCCTCACCCCATGGGAGGGAGGAATTAACATTCATTTGAATGTCGCTTATGTGTTCTTGTCTTACCAAATATTTATTGAGCACTTGCTATGTGCCAGGCACTGTGCAGGGGCCGAGGCGGGTGGATCGCCTGAGGTCAGGAGTTCAAGACCAGCCTGGCCAACAAGGCAAAACCCTGTCTCTACTAAAAATACAAAAATTAGCTGGGCATGGTGGCATGCGCCTGTAGTCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATCGCTTGAACCCGGGAGACAGAGGTTGCAGTGAGCCGACATCGCGCCACTGCACTCCAGCCTGGGTGACACAGCGAGACTCCGTCTCAAAAAAAAAAAAAAGTAAATAAAATAAAATAAAATAAAATGACATCATTCTGCTCTCCAAGAACTCACAGCCTAGTGAGAAAGATGCCTATTTAGTAAGCAAATAATTGCAACACAGTCTGATATTTGTAATTCTTAGCGGAAGAGAGGCAGAAAAGAAAGAGTAGTAGCTTCACATTCCTTGAAGGTGAGGGTGAGACTAATGAGAGCCTTCACCACAAAACCAGTCCTCCGAAGAGCTCTAATTTTGAAATAGGATCCATCCCCACCCTTATGAATGGCTATGAAGCAAGACAAGCTATCCTGTTGAAATCCTTCCAGGCCAATCCCCCTTAAAACACACACACACACACACACACACACACACACACACACACACAACCTTAATTTCTTCATTCTCTGCTCTACCCCCAAGCCAATACCCACTGGTGATACTAAGATACTCATCTGGTTCAGAGAATAGCAGAAACTACCCATTCTTTTACCCTTCAAGATGCTCCCTAAGCACCCAGACCATTTCATTTTTTATCATCATCATCATCATCTGTTTGCATCATCTGGGGAAATTTGGTCTGAGTTAGAGTCTAGGGCAGTGTTAGGAAGAGTACAGATGGGACTTGAACAAAAGGAAATAAGCAGTGGTGGAGGAGAAACAACATGTTAAAACTTCCTGGAAGCACTGGGACATTTTCTGAAGGACTGGCAGAAATGCCAGATTGTGGGTGGCAAAATTGTTTTGACAGAATGAAGTAGAAGAGCTAGGGGTGTATATTAACTAGCAGCTATGTCTGCACAGGCTCAAATTCAGTATTGCTATTTGTTCTGATAGCAGAAAGTGGGGCAAGCCACTGAAATAGGAGACAATTCACTTAATACAAGGTGCCTGGCACCCTTGCCCAAGCAGTAACTTGTACTTTTCCAGCACAGAAAGAATTTTAATCACTTGAGCCCTTGGACCCTGGATCTGATAGCCAGATCTTCTGTGGAGCAGGGTGATCTCTGGGGAGTTTAGCCCTTCTTGGAGAGGCTCATTACATTCTCCATTCGAAAAAGTCTGAACCATTGCATTTTATGATTCTTCACACTGCCCACCCCACCCCCCATCTCTATTTTCCCCATGGCCTTGTCCCTGGAAAACTTCAAATCTTTTGGGCCTGACCATATGCCCAACCAGGTAGGCACTGAATTGGAGATCACCAATGGATGAGAACCCTGAGAATGTTCAGAGGCAACAAGGATGCCCAATTTACCAGCCCTGTGTCACAGGCCATTTGGAACTTCCGTTCATGCAAGACTGTTCAACCAGACCTGGATGTCATTCACTCCCCTATATCCTTGGCTGCTTTGGAACAAAAAGGAAGCTCTGCAACTCTGAAGTTTGAAGAATTTGTATTTCAAGCCTAAACAAAGCCCTATTTAGTACTCAGTAGTAGTAATAATAACATAACAAC
Task1_train_1925
This sequence change occurs on Chromosome 1, altering KCNJ10 (potassium inwardly rectifying channel subfamily J member 10). What is the medical significance of this variant — is it benign or linked to a disease?
Pathogenic; Bilateral sensorineural hearing impairment
CCATCCCTCATGGTGGGATTGTGTTAACTTTCTGGGGAATCTGTGCCCTGTGAATCTAGTTTTACTTGAGCATCCGTGTTAAGAGAGGAAGGCCCTTGCATTTTCCCTCCCTTCTCCCAAAGAGTTGGGGTTAAGGAAGAAGGATCTAGGCTGAGCAGGAAAGGAAGAAGAGAAGCCAGGTACAGTGTAATCTGGAATATTATTTTCAGACCTTTCCATGGGGCCTGGGTACTGGACTCTTTTCAAAGGAACATATTGGCTTGGGTCCTTCCATTCACAGGACACAGGGAAACAGATCTTCTCTGGGCTGCCTGGAAGATAGGTTTAAAGGTTTAGATAACAACTTGTGTTAGTCACTCCAAATTGAAGAGTTCAGAATCCAGGATAGATATGGGTGGTTATATGTTTATGTTTCTTGGGCCAACTCCAATTCTCTGAGAACAGAGGCTATGAGGGAACTGGGTATCCTGAGAGTGTTCACTTGAGAAACTACAGAGGGAAAACAGTGGCGACCATGGTTCTAGCTTATGGTCAGAAGTCACCAGCAGAAATCAAGCTTCACAGTGGCAAACCCTGGCTTCTTTCAACAGAGATTGGTAGAAACCCTAGGATATGTTGATATCAGATTCCTGTATTTCTGAAAGCACAGACCACAAAGTGACCATCAGAGAGAGTCTTGCCTTTGGGAACTTGCTAGATGGAAAGGTAACAGAGGGAGCTCCAGCCTCAAGTCACCAAACTTCATGGTGGTGGTGGGAGGTAGGGGGCAGTCTATCCTTCCAACCACATGGTCCTCCTAATGTGAGTATCCAAGCATGGCTGAGGCCTTCTAAGCCACTTCAGCCTAATCCCACTCTTTCCCCCATCCTGGCTTAAGGGAGGTATGTGTATTGGGGCAGAAGCTGGGGAAGTGGAAAGGGGACAGTGGGAGGCGAACCTGGACTCCAGTTGGCCTAAGCTACCAACAGGCCACTGGGTTAAAGAAGAGGGAGTGGAGGATGGGTGCTTCGGGGGATCTCCAGTAAACCCGGGTAGTATTCCTTACCAGGGCATTGGAAGAGAGGAAAAGAGACCAGAGGAATGGGGGAGTGGGAACAGGTCATCAGACATTGCTGATGCGCACACTAAGGGCACTGCCCTCCTTCTCAGCTTGCTCCCTTAATGACTCCTCCAACTTGAGCTTTTCAGGGTCTCCGTAGCGTACAGTGCTGTCACGGAGGCCACTAGGAGAGGCCACTTTCACAACTTGGTCAAAAAGGCTAAAGTCAGCTATGTATTTACCACTGGCTGACAGTGAGATGGCAGGTGTGAACTCGTAGCCCCAAAGGATCTCCTCTGGCAGGTAGGAAGTGCGCACCTGACAGGTGGCACTGGTGGACTCCACTGTCCCACTTAGGATCAGCACCAGCTCAAAGTCACCCTCACCACTGCGAAGAGGGAGATCTTTCAAGGGACTGGTCTCATCTACCACATGATAGAAGGTAAGGGGTAGAATAAGGAAGGGGCTGTCAGAGGCTGTGTCTACTTGGAAAGTCACATTGACCTGGTTGAGCCGGATGTTCTCCCCTTCCTTGGTTTGGTGGGTCTGAAGCAGTTTTCCTGTCACCTGGCAGCCAATGAGGAGGCTTTTGCGCATATTGGCAACTCGGATCATGAGGCAGGGCTTGCCATTGTGGGAGGCCACAACTGCATGCTGGCTGAAACGAATGGTCTCAGCCCGCTTCTTGGGCCGGGCAATCTTCGCCAGGAAGGTACCTGTGATGAAGATTTCCAGGATGGTGGTGAGCACCAGCTGGGCAATAAGAAGCACAATGGCCAGTGGACATTCCTCACTGATGTAGCGGAAGCCATAGCCAATGGTGGTTTGGGATTCAAGGGAGAAGAGGAAGGCTCCAGTGAGTGTGTGCACCTGTACCACACAGGGGGTGTGGTTGGCCGGGGGGTCCAGCTCCAGCAGGTCCCCATGTGCCACAGCTACCAGATACCACACCACGCCAAAGAGGAACCATGTGCCTGCAAAGGTCGCAGAGAAGAGCAGAAGCTTGTAGCGCCACTGCATGTCAATGAAGGTTGTCCACAGGTCCTTGAGGTAGAGGAAGCGCTTGTCGGCAATGTGCTCCATTCTCACGTTGCTGCGACCATCTTTTGTCAGGACTCTCCGCCGTCGTATCCCTGGGCCCATTAGGGGCCGGCTTTCTGTCTGAGTGGTCTGACTGTAATACACCTTGGCAACTGACGTCATCTGGAGGGAGCAAGACAGCATAATGGAGGTTATCGTAGAAATCCAGCTGACTCCTAACCCTCACCCCATGGGAGGGAGGAATTAACATTCATTTGAATGTCGCTTATGTGTTCTTGTCTTACCAAATATTTATTGAGCACTTGCTATGTGCCAGGCACTGTGCAGGGGCCGAGGCGGGTGGATCGCCTGAGGTCAGGAGTTCAAGACCAGCCTGGCCAACAAGGCAAAACCCTGTCTCTACTAAAAATACAAAAATTAGCTGGGCATGGTGGCATGCGCCTGTAGTCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATCGCTTGAACCCGGGAGACAGAGGTTGCAGTGAGCCGACATCGCGCCACTGCACTCCAGCCTGGGTGACACAGCGAGACTCCGTCTCAAAAAAAAAAAAAAGTAAATAAAATAAAATAAAATAAAATGACATCATTCTGCTCTCCAAGAACTCACAGCCTAGTGAGAAAGATGCCTATTTAGTAAGCAAATAATTGCAACACAGTCTGATATTTGTAATTCTTAGCGGAAGAGAGGCAGAAAAGAAAGAGTAGTAGCTTCACATTCCTTGAAGGTGAGGGTGAGACTAATGAGAGCCTTCACCACAAAACCAGTCCTCCGAAGAGCTCTAATTTTGAAATAGGATCCATCCCCACCCTTATGAATGGCTATGAAGCAAGACAAGCTATCCTGTTGAAATCCTTCCAGGCCAATCCCCCTTAAAACACACACACACACACACACACACACACACACACACACACACAACCTTAATTTCTTCATTCTCTGCTCTACCCCCAAGCCAATACCCACTGGTGATACTAAGATACTCATCTGGTTCAGAGAATAGCAGAAACTACCCATTCTTTTACCCTTCAAGATGCTCCCTAAGCACCCAGACCATTTCATTTTTTATCATCATCATCATCATCTGTTTGCATCATCTGGGGAAATTTGGTCTGAGTTAGAGTCTAGGGCAGTGTTAGGAAGAGTACAGATGGGACTTGAACAAAAGGAAATAAGCAGTGGTGGAGGAGAAACAACATGTTAAAACTTCCTGGAAGCACTGGGACATTTTCTGAAGGACTGGCAGAAATGCCAGATTGTGGGTGGCAAAATTGTTTTGACAGAATGAAGTAGAAGAGCTAGGGGTGTATATTAACTAGCAGCTATGTCTGCACAGGCTCAAATTCAGTATTGCTATTTGTTCTGATAGCAGAAAGTGGGGCAAGCCACTGAAATAGGAGACAATTCACTTAATACAAGGTGCCTGGCACCCTTGCCCAAGCAGTAACTTGTACTTTTCCAGCACAGAAAGAATTTTAATCACTTGAGCCCTTGGACCCTGGATCTGATAGCCAGATCTTCTGTGGAGCAGGGTGATCTCTGGGGAGTTTAGCCCTTCTTGGAGAGGCTCATTACATTCTCCATTCGAAAAAGTCTGAACCATTGCATTTTATGATTCTTCACACTGCCCACCCCACCCCCCATCTCTATTTTCCCCATGGCCTTGTCCCTGGAAAACTTCAAATCTTTTGGGCCTGACCATATGCCCAACCAGGTAGGCACTGAATTGGAGATCACCAATGGATGAGAACCCTGAGAATGTTCAGAGGCAACAAGGATGCCCAATTTACCAGCCCTGTGTCACAGGCCATTTGGAACTTCCGTTCATGCAAGACTGTTCAACCAGACCTGGATGTCATTCACTCCCCTATATCCTTGGCTGCTTTGGAACAAAAAGGAAGCTCTGCAACTCTGAAGTTTGAAGAATTTGTATTTCAAGCCTAAACAAAGCCCTATTTAGTACTCAGTAGTAGTAATAATAACATAACAAC
CCATCCCTCATGGTGGGATTGTGTTAACTTTCTGGGGAATCTGTGCCCTGTGAATCTAGTTTTACTTGAGCATCCGTGTTAAGAGAGGAAGGCCCTTGCATTTTCCCTCCCTTCTCCCAAAGAGTTGGGGTTAAGGAAGAAGGATCTAGGCTGAGCAGGAAAGGAAGAAGAGAAGCCAGGTACAGTGTAATCTGGAATATTATTTTCAGACCTTTCCATGGGGCCTGGGTACTGGACTCTTTTCAAAGGAACATATTGGCTTGGGTCCTTCCATTCACAGGACACAGGGAAACAGATCTTCTCTGGGCTGCCTGGAAGATAGGTTTAAAGGTTTAGATAACAACTTGTGTTAGTCACTCCAAATTGAAGAGTTCAGAATCCAGGATAGATATGGGTGGTTATATGTTTATGTTTCTTGGGCCAACTCCAATTCTCTGAGAACAGAGGCTATGAGGGAACTGGGTATCCTGAGAGTGTTCACTTGAGAAACTACAGAGGGAAAACAGTGGCGACCATGGTTCTAGCTTATGGTCAGAAGTCACCAGCAGAAATCAAGCTTCACAGTGGCAAACCCTGGCTTCTTTCAACAGAGATTGGTAGAAACCCTAGGATATGTTGATATCAGATTCCTGTATTTCTGAAAGCACAGACCACAAAGTGACCATCAGAGAGAGTCTTGCCTTTGGGAACTTGCTAGATGGAAAGGTAACAGAGGGAGCTCCAGCCTCAAGTCACCAAACTTCATGGTGGTGGTGGGAGGTAGGGGGCAGTCTATCCTTCCAACCACATGGTCCTCCTAATGTGAGTATCCAAGCATGGCTGAGGCCTTCTAAGCCACTTCAGCCTAATCCCACTCTTTCCCCCATCCTGGCTTAAGGGAGGTATGTGTATTGGGGCAGAAGCTGGGGAAGTGGAAAGGGGACAGTGGGAGGCGAACCTGGACTCCAGTTGGCCTAAGCTACCAACAGGCCACTGGGTTAAAGAAGAGGGAGTGGAGGATGGGTGCTTCGGGGGATCTCCAGTAAACCCGGGTAGTATTCCTTACCAGGGCATTGGAAGAGAGGAAAAGAGACCAGAGGAATGGGGGAGTGGGAACAGGTCATCAGACATTGCTGATGCGCACACTAAGGGCACTGCCCTCCTTCTCAGCTTGCTCCCTTAATGACTCCTCCAACTTGAGCTTTTCAGGGTCTCCGTAGCGTACAGTGCTGTCACGGAGGCCACTAGGAGAGGCCACTTTCACAACTTGGTCAAAAAGGCTAAAGTCAGCTATGTATTTACCACTGGCTGACAGTGAGATGGCAGGTGTGAACTCGTAGCCCCAAAGGATCTCCTCTGGCAGGTAGGAAGTGCGCACCTGACAGGTGGCACTGGTGGACTCCACTGTCCCACTTAGGATCAGCACCAGCTCAAAGTCACCCTCACCACTGCGAAGAGGGAGATCTTTCAAGGGACTGGTCTCATCTACCACATGATAGAAGGTAAGGGGTAGAATAAGGAAGGGGCTGTCAGAGGCTGTGTCTACTTGGAAAGTCACATTGACCTGGTTGAGCCGGATGTTCTCCCCTTCCTTGGTTTGGTGGGTCTGAAGCAGTTTTCCTGTCACCTGGCAGCCAATGAGGAGGCTTTTGCGCATATTGGCAACTCGGATCATGAGGCAGGGCTTGCCATTGTGGGAGGCCACAACTGCATGCTGGCTGAAACGAATGGTCTCAGCCCGCTTCTTGGGCCGGGCAATCTTCGCCAGGAAGGTACCTGTGATGAAGATTTCCAGGATGGTGGTGAGCACCAGCTGGGCAATAAGAAGCACAATGGCCAGTGGACATTCCTCACTGATGTAGCGGAAGCCATAGCCAATGGTGGTTTGGGATTCAAGGGAGAAGAGGAAGGCTCCAGTGAGTGTGTGCACCTGTACCACACAGGGGGTGTGGTTGGCCGGGGGGTCCAGCTCCAGCAGGTCCCCATGTGCCACAGCTACCAGATACCACACCACGCCAAAGAGGAACCATGTGCCTGCAAAGGTCGCAGAGAAGAGCAGAAGCTTGTAGGGCCACTGCATGTCAATGAAGGTTGTCCACAGGTCCTTGAGGTAGAGGAAGCGCTTGTCGGCAATGTGCTCCATTCTCACGTTGCTGCGACCATCTTTTGTCAGGACTCTCCGCCGTCGTATCCCTGGGCCCATTAGGGGCCGGCTTTCTGTCTGAGTGGTCTGACTGTAATACACCTTGGCAACTGACGTCATCTGGAGGGAGCAAGACAGCATAATGGAGGTTATCGTAGAAATCCAGCTGACTCCTAACCCTCACCCCATGGGAGGGAGGAATTAACATTCATTTGAATGTCGCTTATGTGTTCTTGTCTTACCAAATATTTATTGAGCACTTGCTATGTGCCAGGCACTGTGCAGGGGCCGAGGCGGGTGGATCGCCTGAGGTCAGGAGTTCAAGACCAGCCTGGCCAACAAGGCAAAACCCTGTCTCTACTAAAAATACAAAAATTAGCTGGGCATGGTGGCATGCGCCTGTAGTCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATCGCTTGAACCCGGGAGACAGAGGTTGCAGTGAGCCGACATCGCGCCACTGCACTCCAGCCTGGGTGACACAGCGAGACTCCGTCTCAAAAAAAAAAAAAAGTAAATAAAATAAAATAAAATAAAATGACATCATTCTGCTCTCCAAGAACTCACAGCCTAGTGAGAAAGATGCCTATTTAGTAAGCAAATAATTGCAACACAGTCTGATATTTGTAATTCTTAGCGGAAGAGAGGCAGAAAAGAAAGAGTAGTAGCTTCACATTCCTTGAAGGTGAGGGTGAGACTAATGAGAGCCTTCACCACAAAACCAGTCCTCCGAAGAGCTCTAATTTTGAAATAGGATCCATCCCCACCCTTATGAATGGCTATGAAGCAAGACAAGCTATCCTGTTGAAATCCTTCCAGGCCAATCCCCCTTAAAACACACACACACACACACACACACACACACACACACACACACAACCTTAATTTCTTCATTCTCTGCTCTACCCCCAAGCCAATACCCACTGGTGATACTAAGATACTCATCTGGTTCAGAGAATAGCAGAAACTACCCATTCTTTTACCCTTCAAGATGCTCCCTAAGCACCCAGACCATTTCATTTTTTATCATCATCATCATCATCTGTTTGCATCATCTGGGGAAATTTGGTCTGAGTTAGAGTCTAGGGCAGTGTTAGGAAGAGTACAGATGGGACTTGAACAAAAGGAAATAAGCAGTGGTGGAGGAGAAACAACATGTTAAAACTTCCTGGAAGCACTGGGACATTTTCTGAAGGACTGGCAGAAATGCCAGATTGTGGGTGGCAAAATTGTTTTGACAGAATGAAGTAGAAGAGCTAGGGGTGTATATTAACTAGCAGCTATGTCTGCACAGGCTCAAATTCAGTATTGCTATTTGTTCTGATAGCAGAAAGTGGGGCAAGCCACTGAAATAGGAGACAATTCACTTAATACAAGGTGCCTGGCACCCTTGCCCAAGCAGTAACTTGTACTTTTCCAGCACAGAAAGAATTTTAATCACTTGAGCCCTTGGACCCTGGATCTGATAGCCAGATCTTCTGTGGAGCAGGGTGATCTCTGGGGAGTTTAGCCCTTCTTGGAGAGGCTCATTACATTCTCCATTCGAAAAAGTCTGAACCATTGCATTTTATGATTCTTCACACTGCCCACCCCACCCCCCATCTCTATTTTCCCCATGGCCTTGTCCCTGGAAAACTTCAAATCTTTTGGGCCTGACCATATGCCCAACCAGGTAGGCACTGAATTGGAGATCACCAATGGATGAGAACCCTGAGAATGTTCAGAGGCAACAAGGATGCCCAATTTACCAGCCCTGTGTCACAGGCCATTTGGAACTTCCGTTCATGCAAGACTGTTCAACCAGACCTGGATGTCATTCACTCCCCTATATCCTTGGCTGCTTTGGAACAAAAAGGAAGCTCTGCAACTCTGAAGTTTGAAGAATTTGTATTTCAAGCCTAAACAAAGCCCTATTTAGTACTCAGTAGTAGTAATAATAACATAACAAC
Task1_train_1926
This sequence change occurs on Chromosome 1, altering KCNJ10 (potassium inwardly rectifying channel subfamily J member 10). What is the medical significance of this variant — is it benign or linked to a disease?
Pathogenic; Renal tubular dysfunction
CCATCCCTCATGGTGGGATTGTGTTAACTTTCTGGGGAATCTGTGCCCTGTGAATCTAGTTTTACTTGAGCATCCGTGTTAAGAGAGGAAGGCCCTTGCATTTTCCCTCCCTTCTCCCAAAGAGTTGGGGTTAAGGAAGAAGGATCTAGGCTGAGCAGGAAAGGAAGAAGAGAAGCCAGGTACAGTGTAATCTGGAATATTATTTTCAGACCTTTCCATGGGGCCTGGGTACTGGACTCTTTTCAAAGGAACATATTGGCTTGGGTCCTTCCATTCACAGGACACAGGGAAACAGATCTTCTCTGGGCTGCCTGGAAGATAGGTTTAAAGGTTTAGATAACAACTTGTGTTAGTCACTCCAAATTGAAGAGTTCAGAATCCAGGATAGATATGGGTGGTTATATGTTTATGTTTCTTGGGCCAACTCCAATTCTCTGAGAACAGAGGCTATGAGGGAACTGGGTATCCTGAGAGTGTTCACTTGAGAAACTACAGAGGGAAAACAGTGGCGACCATGGTTCTAGCTTATGGTCAGAAGTCACCAGCAGAAATCAAGCTTCACAGTGGCAAACCCTGGCTTCTTTCAACAGAGATTGGTAGAAACCCTAGGATATGTTGATATCAGATTCCTGTATTTCTGAAAGCACAGACCACAAAGTGACCATCAGAGAGAGTCTTGCCTTTGGGAACTTGCTAGATGGAAAGGTAACAGAGGGAGCTCCAGCCTCAAGTCACCAAACTTCATGGTGGTGGTGGGAGGTAGGGGGCAGTCTATCCTTCCAACCACATGGTCCTCCTAATGTGAGTATCCAAGCATGGCTGAGGCCTTCTAAGCCACTTCAGCCTAATCCCACTCTTTCCCCCATCCTGGCTTAAGGGAGGTATGTGTATTGGGGCAGAAGCTGGGGAAGTGGAAAGGGGACAGTGGGAGGCGAACCTGGACTCCAGTTGGCCTAAGCTACCAACAGGCCACTGGGTTAAAGAAGAGGGAGTGGAGGATGGGTGCTTCGGGGGATCTCCAGTAAACCCGGGTAGTATTCCTTACCAGGGCATTGGAAGAGAGGAAAAGAGACCAGAGGAATGGGGGAGTGGGAACAGGTCATCAGACATTGCTGATGCGCACACTAAGGGCACTGCCCTCCTTCTCAGCTTGCTCCCTTAATGACTCCTCCAACTTGAGCTTTTCAGGGTCTCCGTAGCGTACAGTGCTGTCACGGAGGCCACTAGGAGAGGCCACTTTCACAACTTGGTCAAAAAGGCTAAAGTCAGCTATGTATTTACCACTGGCTGACAGTGAGATGGCAGGTGTGAACTCGTAGCCCCAAAGGATCTCCTCTGGCAGGTAGGAAGTGCGCACCTGACAGGTGGCACTGGTGGACTCCACTGTCCCACTTAGGATCAGCACCAGCTCAAAGTCACCCTCACCACTGCGAAGAGGGAGATCTTTCAAGGGACTGGTCTCATCTACCACATGATAGAAGGTAAGGGGTAGAATAAGGAAGGGGCTGTCAGAGGCTGTGTCTACTTGGAAAGTCACATTGACCTGGTTGAGCCGGATGTTCTCCCCTTCCTTGGTTTGGTGGGTCTGAAGCAGTTTTCCTGTCACCTGGCAGCCAATGAGGAGGCTTTTGCGCATATTGGCAACTCGGATCATGAGGCAGGGCTTGCCATTGTGGGAGGCCACAACTGCATGCTGGCTGAAACGAATGGTCTCAGCCCGCTTCTTGGGCCGGGCAATCTTCGCCAGGAAGGTACCTGTGATGAAGATTTCCAGGATGGTGGTGAGCACCAGCTGGGCAATAAGAAGCACAATGGCCAGTGGACATTCCTCACTGATGTAGCGGAAGCCATAGCCAATGGTGGTTTGGGATTCAAGGGAGAAGAGGAAGGCTCCAGTGAGTGTGTGCACCTGTACCACACAGGGGGTGTGGTTGGCCGGGGGGTCCAGCTCCAGCAGGTCCCCATGTGCCACAGCTACCAGATACCACACCACGCCAAAGAGGAACCATGTGCCTGCAAAGGTCGCAGAGAAGAGCAGAAGCTTGTAGCGCCACTGCATGTCAATGAAGGTTGTCCACAGGTCCTTGAGGTAGAGGAAGCGCTTGTCGGCAATGTGCTCCATTCTCACGTTGCTGCGACCATCTTTTGTCAGGACTCTCCGCCGTCGTATCCCTGGGCCCATTAGGGGCCGGCTTTCTGTCTGAGTGGTCTGACTGTAATACACCTTGGCAACTGACGTCATCTGGAGGGAGCAAGACAGCATAATGGAGGTTATCGTAGAAATCCAGCTGACTCCTAACCCTCACCCCATGGGAGGGAGGAATTAACATTCATTTGAATGTCGCTTATGTGTTCTTGTCTTACCAAATATTTATTGAGCACTTGCTATGTGCCAGGCACTGTGCAGGGGCCGAGGCGGGTGGATCGCCTGAGGTCAGGAGTTCAAGACCAGCCTGGCCAACAAGGCAAAACCCTGTCTCTACTAAAAATACAAAAATTAGCTGGGCATGGTGGCATGCGCCTGTAGTCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATCGCTTGAACCCGGGAGACAGAGGTTGCAGTGAGCCGACATCGCGCCACTGCACTCCAGCCTGGGTGACACAGCGAGACTCCGTCTCAAAAAAAAAAAAAAGTAAATAAAATAAAATAAAATAAAATGACATCATTCTGCTCTCCAAGAACTCACAGCCTAGTGAGAAAGATGCCTATTTAGTAAGCAAATAATTGCAACACAGTCTGATATTTGTAATTCTTAGCGGAAGAGAGGCAGAAAAGAAAGAGTAGTAGCTTCACATTCCTTGAAGGTGAGGGTGAGACTAATGAGAGCCTTCACCACAAAACCAGTCCTCCGAAGAGCTCTAATTTTGAAATAGGATCCATCCCCACCCTTATGAATGGCTATGAAGCAAGACAAGCTATCCTGTTGAAATCCTTCCAGGCCAATCCCCCTTAAAACACACACACACACACACACACACACACACACACACACACACAACCTTAATTTCTTCATTCTCTGCTCTACCCCCAAGCCAATACCCACTGGTGATACTAAGATACTCATCTGGTTCAGAGAATAGCAGAAACTACCCATTCTTTTACCCTTCAAGATGCTCCCTAAGCACCCAGACCATTTCATTTTTTATCATCATCATCATCATCTGTTTGCATCATCTGGGGAAATTTGGTCTGAGTTAGAGTCTAGGGCAGTGTTAGGAAGAGTACAGATGGGACTTGAACAAAAGGAAATAAGCAGTGGTGGAGGAGAAACAACATGTTAAAACTTCCTGGAAGCACTGGGACATTTTCTGAAGGACTGGCAGAAATGCCAGATTGTGGGTGGCAAAATTGTTTTGACAGAATGAAGTAGAAGAGCTAGGGGTGTATATTAACTAGCAGCTATGTCTGCACAGGCTCAAATTCAGTATTGCTATTTGTTCTGATAGCAGAAAGTGGGGCAAGCCACTGAAATAGGAGACAATTCACTTAATACAAGGTGCCTGGCACCCTTGCCCAAGCAGTAACTTGTACTTTTCCAGCACAGAAAGAATTTTAATCACTTGAGCCCTTGGACCCTGGATCTGATAGCCAGATCTTCTGTGGAGCAGGGTGATCTCTGGGGAGTTTAGCCCTTCTTGGAGAGGCTCATTACATTCTCCATTCGAAAAAGTCTGAACCATTGCATTTTATGATTCTTCACACTGCCCACCCCACCCCCCATCTCTATTTTCCCCATGGCCTTGTCCCTGGAAAACTTCAAATCTTTTGGGCCTGACCATATGCCCAACCAGGTAGGCACTGAATTGGAGATCACCAATGGATGAGAACCCTGAGAATGTTCAGAGGCAACAAGGATGCCCAATTTACCAGCCCTGTGTCACAGGCCATTTGGAACTTCCGTTCATGCAAGACTGTTCAACCAGACCTGGATGTCATTCACTCCCCTATATCCTTGGCTGCTTTGGAACAAAAAGGAAGCTCTGCAACTCTGAAGTTTGAAGAATTTGTATTTCAAGCCTAAACAAAGCCCTATTTAGTACTCAGTAGTAGTAATAATAACATAACAAC
CCATCCCTCATGGTGGGATTGTGTTAACTTTCTGGGGAATCTGTGCCCTGTGAATCTAGTTTTACTTGAGCATCCGTGTTAAGAGAGGAAGGCCCTTGCATTTTCCCTCCCTTCTCCCAAAGAGTTGGGGTTAAGGAAGAAGGATCTAGGCTGAGCAGGAAAGGAAGAAGAGAAGCCAGGTACAGTGTAATCTGGAATATTATTTTCAGACCTTTCCATGGGGCCTGGGTACTGGACTCTTTTCAAAGGAACATATTGGCTTGGGTCCTTCCATTCACAGGACACAGGGAAACAGATCTTCTCTGGGCTGCCTGGAAGATAGGTTTAAAGGTTTAGATAACAACTTGTGTTAGTCACTCCAAATTGAAGAGTTCAGAATCCAGGATAGATATGGGTGGTTATATGTTTATGTTTCTTGGGCCAACTCCAATTCTCTGAGAACAGAGGCTATGAGGGAACTGGGTATCCTGAGAGTGTTCACTTGAGAAACTACAGAGGGAAAACAGTGGCGACCATGGTTCTAGCTTATGGTCAGAAGTCACCAGCAGAAATCAAGCTTCACAGTGGCAAACCCTGGCTTCTTTCAACAGAGATTGGTAGAAACCCTAGGATATGTTGATATCAGATTCCTGTATTTCTGAAAGCACAGACCACAAAGTGACCATCAGAGAGAGTCTTGCCTTTGGGAACTTGCTAGATGGAAAGGTAACAGAGGGAGCTCCAGCCTCAAGTCACCAAACTTCATGGTGGTGGTGGGAGGTAGGGGGCAGTCTATCCTTCCAACCACATGGTCCTCCTAATGTGAGTATCCAAGCATGGCTGAGGCCTTCTAAGCCACTTCAGCCTAATCCCACTCTTTCCCCCATCCTGGCTTAAGGGAGGTATGTGTATTGGGGCAGAAGCTGGGGAAGTGGAAAGGGGACAGTGGGAGGCGAACCTGGACTCCAGTTGGCCTAAGCTACCAACAGGCCACTGGGTTAAAGAAGAGGGAGTGGAGGATGGGTGCTTCGGGGGATCTCCAGTAAACCCGGGTAGTATTCCTTACCAGGGCATTGGAAGAGAGGAAAAGAGACCAGAGGAATGGGGGAGTGGGAACAGGTCATCAGACATTGCTGATGCGCACACTAAGGGCACTGCCCTCCTTCTCAGCTTGCTCCCTTAATGACTCCTCCAACTTGAGCTTTTCAGGGTCTCCGTAGCGTACAGTGCTGTCACGGAGGCCACTAGGAGAGGCCACTTTCACAACTTGGTCAAAAAGGCTAAAGTCAGCTATGTATTTACCACTGGCTGACAGTGAGATGGCAGGTGTGAACTCGTAGCCCCAAAGGATCTCCTCTGGCAGGTAGGAAGTGCGCACCTGACAGGTGGCACTGGTGGACTCCACTGTCCCACTTAGGATCAGCACCAGCTCAAAGTCACCCTCACCACTGCGAAGAGGGAGATCTTTCAAGGGACTGGTCTCATCTACCACATGATAGAAGGTAAGGGGTAGAATAAGGAAGGGGCTGTCAGAGGCTGTGTCTACTTGGAAAGTCACATTGACCTGGTTGAGCCGGATGTTCTCCCCTTCCTTGGTTTGGTGGGTCTGAAGCAGTTTTCCTGTCACCTGGCAGCCAATGAGGAGGCTTTTGCGCATATTGGCAACTCGGATCATGAGGCAGGGCTTGCCATTGTGGGAGGCCACAACTGCATGCTGGCTGAAACGAATGGTCTCAGCCCGCTTCTTGGGCCGGGCAATCTTCGCCAGGAAGGTACCTGTGATGAAGATTTCCAGGATGGTGGTGAGCACCAGCTGGGCAATAAGAAGCACAATGGCCAGTGGACATTCCTCACTGATGTAGCGGAAGCCATAGCCAATGGTGGTTTGGGATTCAAGGGAGAAGAGGAAGGCTCCAGTGAGTGTGTGCACCTGTACCACACAGGGGGTGTGGTTGGCCGGGGGGTCCAGCTCCAGCAGGTCCCCATGTGCCACAGCTACCAGATACCACACCACGCCAAAGAGGAACCATGTGCCTGCAAAGGTCGCAGAGAAGAGCAGAAGCTTGTAGGGCCACTGCATGTCAATGAAGGTTGTCCACAGGTCCTTGAGGTAGAGGAAGCGCTTGTCGGCAATGTGCTCCATTCTCACGTTGCTGCGACCATCTTTTGTCAGGACTCTCCGCCGTCGTATCCCTGGGCCCATTAGGGGCCGGCTTTCTGTCTGAGTGGTCTGACTGTAATACACCTTGGCAACTGACGTCATCTGGAGGGAGCAAGACAGCATAATGGAGGTTATCGTAGAAATCCAGCTGACTCCTAACCCTCACCCCATGGGAGGGAGGAATTAACATTCATTTGAATGTCGCTTATGTGTTCTTGTCTTACCAAATATTTATTGAGCACTTGCTATGTGCCAGGCACTGTGCAGGGGCCGAGGCGGGTGGATCGCCTGAGGTCAGGAGTTCAAGACCAGCCTGGCCAACAAGGCAAAACCCTGTCTCTACTAAAAATACAAAAATTAGCTGGGCATGGTGGCATGCGCCTGTAGTCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATCGCTTGAACCCGGGAGACAGAGGTTGCAGTGAGCCGACATCGCGCCACTGCACTCCAGCCTGGGTGACACAGCGAGACTCCGTCTCAAAAAAAAAAAAAAGTAAATAAAATAAAATAAAATAAAATGACATCATTCTGCTCTCCAAGAACTCACAGCCTAGTGAGAAAGATGCCTATTTAGTAAGCAAATAATTGCAACACAGTCTGATATTTGTAATTCTTAGCGGAAGAGAGGCAGAAAAGAAAGAGTAGTAGCTTCACATTCCTTGAAGGTGAGGGTGAGACTAATGAGAGCCTTCACCACAAAACCAGTCCTCCGAAGAGCTCTAATTTTGAAATAGGATCCATCCCCACCCTTATGAATGGCTATGAAGCAAGACAAGCTATCCTGTTGAAATCCTTCCAGGCCAATCCCCCTTAAAACACACACACACACACACACACACACACACACACACACACACAACCTTAATTTCTTCATTCTCTGCTCTACCCCCAAGCCAATACCCACTGGTGATACTAAGATACTCATCTGGTTCAGAGAATAGCAGAAACTACCCATTCTTTTACCCTTCAAGATGCTCCCTAAGCACCCAGACCATTTCATTTTTTATCATCATCATCATCATCTGTTTGCATCATCTGGGGAAATTTGGTCTGAGTTAGAGTCTAGGGCAGTGTTAGGAAGAGTACAGATGGGACTTGAACAAAAGGAAATAAGCAGTGGTGGAGGAGAAACAACATGTTAAAACTTCCTGGAAGCACTGGGACATTTTCTGAAGGACTGGCAGAAATGCCAGATTGTGGGTGGCAAAATTGTTTTGACAGAATGAAGTAGAAGAGCTAGGGGTGTATATTAACTAGCAGCTATGTCTGCACAGGCTCAAATTCAGTATTGCTATTTGTTCTGATAGCAGAAAGTGGGGCAAGCCACTGAAATAGGAGACAATTCACTTAATACAAGGTGCCTGGCACCCTTGCCCAAGCAGTAACTTGTACTTTTCCAGCACAGAAAGAATTTTAATCACTTGAGCCCTTGGACCCTGGATCTGATAGCCAGATCTTCTGTGGAGCAGGGTGATCTCTGGGGAGTTTAGCCCTTCTTGGAGAGGCTCATTACATTCTCCATTCGAAAAAGTCTGAACCATTGCATTTTATGATTCTTCACACTGCCCACCCCACCCCCCATCTCTATTTTCCCCATGGCCTTGTCCCTGGAAAACTTCAAATCTTTTGGGCCTGACCATATGCCCAACCAGGTAGGCACTGAATTGGAGATCACCAATGGATGAGAACCCTGAGAATGTTCAGAGGCAACAAGGATGCCCAATTTACCAGCCCTGTGTCACAGGCCATTTGGAACTTCCGTTCATGCAAGACTGTTCAACCAGACCTGGATGTCATTCACTCCCCTATATCCTTGGCTGCTTTGGAACAAAAAGGAAGCTCTGCAACTCTGAAGTTTGAAGAATTTGTATTTCAAGCCTAAACAAAGCCCTATTTAGTACTCAGTAGTAGTAATAATAACATAACAAC
Task1_train_1927
Located on Chromosome 1, this mutation impacts KCNJ10 (potassium inwardly rectifying channel subfamily J member 10). What is its biological consequence — is it benign or pathogenic, and which disease is associated if any?
Pathogenic; EAST syndrome
CCATCCCTCATGGTGGGATTGTGTTAACTTTCTGGGGAATCTGTGCCCTGTGAATCTAGTTTTACTTGAGCATCCGTGTTAAGAGAGGAAGGCCCTTGCATTTTCCCTCCCTTCTCCCAAAGAGTTGGGGTTAAGGAAGAAGGATCTAGGCTGAGCAGGAAAGGAAGAAGAGAAGCCAGGTACAGTGTAATCTGGAATATTATTTTCAGACCTTTCCATGGGGCCTGGGTACTGGACTCTTTTCAAAGGAACATATTGGCTTGGGTCCTTCCATTCACAGGACACAGGGAAACAGATCTTCTCTGGGCTGCCTGGAAGATAGGTTTAAAGGTTTAGATAACAACTTGTGTTAGTCACTCCAAATTGAAGAGTTCAGAATCCAGGATAGATATGGGTGGTTATATGTTTATGTTTCTTGGGCCAACTCCAATTCTCTGAGAACAGAGGCTATGAGGGAACTGGGTATCCTGAGAGTGTTCACTTGAGAAACTACAGAGGGAAAACAGTGGCGACCATGGTTCTAGCTTATGGTCAGAAGTCACCAGCAGAAATCAAGCTTCACAGTGGCAAACCCTGGCTTCTTTCAACAGAGATTGGTAGAAACCCTAGGATATGTTGATATCAGATTCCTGTATTTCTGAAAGCACAGACCACAAAGTGACCATCAGAGAGAGTCTTGCCTTTGGGAACTTGCTAGATGGAAAGGTAACAGAGGGAGCTCCAGCCTCAAGTCACCAAACTTCATGGTGGTGGTGGGAGGTAGGGGGCAGTCTATCCTTCCAACCACATGGTCCTCCTAATGTGAGTATCCAAGCATGGCTGAGGCCTTCTAAGCCACTTCAGCCTAATCCCACTCTTTCCCCCATCCTGGCTTAAGGGAGGTATGTGTATTGGGGCAGAAGCTGGGGAAGTGGAAAGGGGACAGTGGGAGGCGAACCTGGACTCCAGTTGGCCTAAGCTACCAACAGGCCACTGGGTTAAAGAAGAGGGAGTGGAGGATGGGTGCTTCGGGGGATCTCCAGTAAACCCGGGTAGTATTCCTTACCAGGGCATTGGAAGAGAGGAAAAGAGACCAGAGGAATGGGGGAGTGGGAACAGGTCATCAGACATTGCTGATGCGCACACTAAGGGCACTGCCCTCCTTCTCAGCTTGCTCCCTTAATGACTCCTCCAACTTGAGCTTTTCAGGGTCTCCGTAGCGTACAGTGCTGTCACGGAGGCCACTAGGAGAGGCCACTTTCACAACTTGGTCAAAAAGGCTAAAGTCAGCTATGTATTTACCACTGGCTGACAGTGAGATGGCAGGTGTGAACTCGTAGCCCCAAAGGATCTCCTCTGGCAGGTAGGAAGTGCGCACCTGACAGGTGGCACTGGTGGACTCCACTGTCCCACTTAGGATCAGCACCAGCTCAAAGTCACCCTCACCACTGCGAAGAGGGAGATCTTTCAAGGGACTGGTCTCATCTACCACATGATAGAAGGTAAGGGGTAGAATAAGGAAGGGGCTGTCAGAGGCTGTGTCTACTTGGAAAGTCACATTGACCTGGTTGAGCCGGATGTTCTCCCCTTCCTTGGTTTGGTGGGTCTGAAGCAGTTTTCCTGTCACCTGGCAGCCAATGAGGAGGCTTTTGCGCATATTGGCAACTCGGATCATGAGGCAGGGCTTGCCATTGTGGGAGGCCACAACTGCATGCTGGCTGAAACGAATGGTCTCAGCCCGCTTCTTGGGCCGGGCAATCTTCGCCAGGAAGGTACCTGTGATGAAGATTTCCAGGATGGTGGTGAGCACCAGCTGGGCAATAAGAAGCACAATGGCCAGTGGACATTCCTCACTGATGTAGCGGAAGCCATAGCCAATGGTGGTTTGGGATTCAAGGGAGAAGAGGAAGGCTCCAGTGAGTGTGTGCACCTGTACCACACAGGGGGTGTGGTTGGCCGGGGGGTCCAGCTCCAGCAGGTCCCCATGTGCCACAGCTACCAGATACCACACCACGCCAAAGAGGAACCATGTGCCTGCAAAGGTCGCAGAGAAGAGCAGAAGCTTGTAGCGCCACTGCATGTCAATGAAGGTTGTCCACAGGTCCTTGAGGTAGAGGAAGCGCTTGTCGGCAATGTGCTCCATTCTCACGTTGCTGCGACCATCTTTTGTCAGGACTCTCCGCCGTCGTATCCCTGGGCCCATTAGGGGCCGGCTTTCTGTCTGAGTGGTCTGACTGTAATACACCTTGGCAACTGACGTCATCTGGAGGGAGCAAGACAGCATAATGGAGGTTATCGTAGAAATCCAGCTGACTCCTAACCCTCACCCCATGGGAGGGAGGAATTAACATTCATTTGAATGTCGCTTATGTGTTCTTGTCTTACCAAATATTTATTGAGCACTTGCTATGTGCCAGGCACTGTGCAGGGGCCGAGGCGGGTGGATCGCCTGAGGTCAGGAGTTCAAGACCAGCCTGGCCAACAAGGCAAAACCCTGTCTCTACTAAAAATACAAAAATTAGCTGGGCATGGTGGCATGCGCCTGTAGTCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATCGCTTGAACCCGGGAGACAGAGGTTGCAGTGAGCCGACATCGCGCCACTGCACTCCAGCCTGGGTGACACAGCGAGACTCCGTCTCAAAAAAAAAAAAAAGTAAATAAAATAAAATAAAATAAAATGACATCATTCTGCTCTCCAAGAACTCACAGCCTAGTGAGAAAGATGCCTATTTAGTAAGCAAATAATTGCAACACAGTCTGATATTTGTAATTCTTAGCGGAAGAGAGGCAGAAAAGAAAGAGTAGTAGCTTCACATTCCTTGAAGGTGAGGGTGAGACTAATGAGAGCCTTCACCACAAAACCAGTCCTCCGAAGAGCTCTAATTTTGAAATAGGATCCATCCCCACCCTTATGAATGGCTATGAAGCAAGACAAGCTATCCTGTTGAAATCCTTCCAGGCCAATCCCCCTTAAAACACACACACACACACACACACACACACACACACACACACACAACCTTAATTTCTTCATTCTCTGCTCTACCCCCAAGCCAATACCCACTGGTGATACTAAGATACTCATCTGGTTCAGAGAATAGCAGAAACTACCCATTCTTTTACCCTTCAAGATGCTCCCTAAGCACCCAGACCATTTCATTTTTTATCATCATCATCATCATCTGTTTGCATCATCTGGGGAAATTTGGTCTGAGTTAGAGTCTAGGGCAGTGTTAGGAAGAGTACAGATGGGACTTGAACAAAAGGAAATAAGCAGTGGTGGAGGAGAAACAACATGTTAAAACTTCCTGGAAGCACTGGGACATTTTCTGAAGGACTGGCAGAAATGCCAGATTGTGGGTGGCAAAATTGTTTTGACAGAATGAAGTAGAAGAGCTAGGGGTGTATATTAACTAGCAGCTATGTCTGCACAGGCTCAAATTCAGTATTGCTATTTGTTCTGATAGCAGAAAGTGGGGCAAGCCACTGAAATAGGAGACAATTCACTTAATACAAGGTGCCTGGCACCCTTGCCCAAGCAGTAACTTGTACTTTTCCAGCACAGAAAGAATTTTAATCACTTGAGCCCTTGGACCCTGGATCTGATAGCCAGATCTTCTGTGGAGCAGGGTGATCTCTGGGGAGTTTAGCCCTTCTTGGAGAGGCTCATTACATTCTCCATTCGAAAAAGTCTGAACCATTGCATTTTATGATTCTTCACACTGCCCACCCCACCCCCCATCTCTATTTTCCCCATGGCCTTGTCCCTGGAAAACTTCAAATCTTTTGGGCCTGACCATATGCCCAACCAGGTAGGCACTGAATTGGAGATCACCAATGGATGAGAACCCTGAGAATGTTCAGAGGCAACAAGGATGCCCAATTTACCAGCCCTGTGTCACAGGCCATTTGGAACTTCCGTTCATGCAAGACTGTTCAACCAGACCTGGATGTCATTCACTCCCCTATATCCTTGGCTGCTTTGGAACAAAAAGGAAGCTCTGCAACTCTGAAGTTTGAAGAATTTGTATTTCAAGCCTAAACAAAGCCCTATTTAGTACTCAGTAGTAGTAATAATAACATAACAAC
CCATCCCTCATGGTGGGATTGTGTTAACTTTCTGGGGAATCTGTGCCCTGTGAATCTAGTTTTACTTGAGCATCCGTGTTAAGAGAGGAAGGCCCTTGCATTTTCCCTCCCTTCTCCCAAAGAGTTGGGGTTAAGGAAGAAGGATCTAGGCTGAGCAGGAAAGGAAGAAGAGAAGCCAGGTACAGTGTAATCTGGAATATTATTTTCAGACCTTTCCATGGGGCCTGGGTACTGGACTCTTTTCAAAGGAACATATTGGCTTGGGTCCTTCCATTCACAGGACACAGGGAAACAGATCTTCTCTGGGCTGCCTGGAAGATAGGTTTAAAGGTTTAGATAACAACTTGTGTTAGTCACTCCAAATTGAAGAGTTCAGAATCCAGGATAGATATGGGTGGTTATATGTTTATGTTTCTTGGGCCAACTCCAATTCTCTGAGAACAGAGGCTATGAGGGAACTGGGTATCCTGAGAGTGTTCACTTGAGAAACTACAGAGGGAAAACAGTGGCGACCATGGTTCTAGCTTATGGTCAGAAGTCACCAGCAGAAATCAAGCTTCACAGTGGCAAACCCTGGCTTCTTTCAACAGAGATTGGTAGAAACCCTAGGATATGTTGATATCAGATTCCTGTATTTCTGAAAGCACAGACCACAAAGTGACCATCAGAGAGAGTCTTGCCTTTGGGAACTTGCTAGATGGAAAGGTAACAGAGGGAGCTCCAGCCTCAAGTCACCAAACTTCATGGTGGTGGTGGGAGGTAGGGGGCAGTCTATCCTTCCAACCACATGGTCCTCCTAATGTGAGTATCCAAGCATGGCTGAGGCCTTCTAAGCCACTTCAGCCTAATCCCACTCTTTCCCCCATCCTGGCTTAAGGGAGGTATGTGTATTGGGGCAGAAGCTGGGGAAGTGGAAAGGGGACAGTGGGAGGCGAACCTGGACTCCAGTTGGCCTAAGCTACCAACAGGCCACTGGGTTAAAGAAGAGGGAGTGGAGGATGGGTGCTTCGGGGGATCTCCAGTAAACCCGGGTAGTATTCCTTACCAGGGCATTGGAAGAGAGGAAAAGAGACCAGAGGAATGGGGGAGTGGGAACAGGTCATCAGACATTGCTGATGCGCACACTAAGGGCACTGCCCTCCTTCTCAGCTTGCTCCCTTAATGACTCCTCCAACTTGAGCTTTTCAGGGTCTCCGTAGCGTACAGTGCTGTCACGGAGGCCACTAGGAGAGGCCACTTTCACAACTTGGTCAAAAAGGCTAAAGTCAGCTATGTATTTACCACTGGCTGACAGTGAGATGGCAGGTGTGAACTCGTAGCCCCAAAGGATCTCCTCTGGCAGGTAGGAAGTGCGCACCTGACAGGTGGCACTGGTGGACTCCACTGTCCCACTTAGGATCAGCACCAGCTCAAAGTCACCCTCACCACTGCGAAGAGGGAGATCTTTCAAGGGACTGGTCTCATCTACCACATGATAGAAGGTAAGGGGTAGAATAAGGAAGGGGCTGTCAGAGGCTGTGTCTACTTGGAAAGTCACATTGACCTGGTTGAGCCGGATGTTCTCCCCTTCCTTGGTTTGGTGGGTCTGAAGCAGTTTTCCTGTCACCTGGCAGCCAATGAGGAGGCTTTTGCGCATATTGGCAACTCGGATCATGAGGCAGGGCTTGCCATTGTGGGAGGCCACAACTGCATGCTGGCTGAAACGAATGGTCTCAGCCCGCTTCTTGGGCCGGGCAATCTTCGCCAGGAAGGTACCTGTGATGAAGATTTCCAGGATGGTGGTGAGCACCAGCTGGGCAATAAGAAGCACAATGGCCAGTGGACATTCCTCACTGATGTAGCGGAAGCCATAGCCAATGGTGGTTTGGGATTCAAGGGAGAAGAGGAAGGCTCCAGTGAGTGTGTGCACCTGTACCACACAGGGGGTGTGGTTGGCCGGGGGGTCCAGCTCCAGCAGGTCCCCATGTGCCACAGCTACCAGATACCACACCACGCCAAAGAGGAACCATGTGCCTGCAAAGGTCGCAGAGAAGAGCAGAAGCTTGTAGGGCCACTGCATGTCAATGAAGGTTGTCCACAGGTCCTTGAGGTAGAGGAAGCGCTTGTCGGCAATGTGCTCCATTCTCACGTTGCTGCGACCATCTTTTGTCAGGACTCTCCGCCGTCGTATCCCTGGGCCCATTAGGGGCCGGCTTTCTGTCTGAGTGGTCTGACTGTAATACACCTTGGCAACTGACGTCATCTGGAGGGAGCAAGACAGCATAATGGAGGTTATCGTAGAAATCCAGCTGACTCCTAACCCTCACCCCATGGGAGGGAGGAATTAACATTCATTTGAATGTCGCTTATGTGTTCTTGTCTTACCAAATATTTATTGAGCACTTGCTATGTGCCAGGCACTGTGCAGGGGCCGAGGCGGGTGGATCGCCTGAGGTCAGGAGTTCAAGACCAGCCTGGCCAACAAGGCAAAACCCTGTCTCTACTAAAAATACAAAAATTAGCTGGGCATGGTGGCATGCGCCTGTAGTCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATCGCTTGAACCCGGGAGACAGAGGTTGCAGTGAGCCGACATCGCGCCACTGCACTCCAGCCTGGGTGACACAGCGAGACTCCGTCTCAAAAAAAAAAAAAAGTAAATAAAATAAAATAAAATAAAATGACATCATTCTGCTCTCCAAGAACTCACAGCCTAGTGAGAAAGATGCCTATTTAGTAAGCAAATAATTGCAACACAGTCTGATATTTGTAATTCTTAGCGGAAGAGAGGCAGAAAAGAAAGAGTAGTAGCTTCACATTCCTTGAAGGTGAGGGTGAGACTAATGAGAGCCTTCACCACAAAACCAGTCCTCCGAAGAGCTCTAATTTTGAAATAGGATCCATCCCCACCCTTATGAATGGCTATGAAGCAAGACAAGCTATCCTGTTGAAATCCTTCCAGGCCAATCCCCCTTAAAACACACACACACACACACACACACACACACACACACACACACAACCTTAATTTCTTCATTCTCTGCTCTACCCCCAAGCCAATACCCACTGGTGATACTAAGATACTCATCTGGTTCAGAGAATAGCAGAAACTACCCATTCTTTTACCCTTCAAGATGCTCCCTAAGCACCCAGACCATTTCATTTTTTATCATCATCATCATCATCTGTTTGCATCATCTGGGGAAATTTGGTCTGAGTTAGAGTCTAGGGCAGTGTTAGGAAGAGTACAGATGGGACTTGAACAAAAGGAAATAAGCAGTGGTGGAGGAGAAACAACATGTTAAAACTTCCTGGAAGCACTGGGACATTTTCTGAAGGACTGGCAGAAATGCCAGATTGTGGGTGGCAAAATTGTTTTGACAGAATGAAGTAGAAGAGCTAGGGGTGTATATTAACTAGCAGCTATGTCTGCACAGGCTCAAATTCAGTATTGCTATTTGTTCTGATAGCAGAAAGTGGGGCAAGCCACTGAAATAGGAGACAATTCACTTAATACAAGGTGCCTGGCACCCTTGCCCAAGCAGTAACTTGTACTTTTCCAGCACAGAAAGAATTTTAATCACTTGAGCCCTTGGACCCTGGATCTGATAGCCAGATCTTCTGTGGAGCAGGGTGATCTCTGGGGAGTTTAGCCCTTCTTGGAGAGGCTCATTACATTCTCCATTCGAAAAAGTCTGAACCATTGCATTTTATGATTCTTCACACTGCCCACCCCACCCCCCATCTCTATTTTCCCCATGGCCTTGTCCCTGGAAAACTTCAAATCTTTTGGGCCTGACCATATGCCCAACCAGGTAGGCACTGAATTGGAGATCACCAATGGATGAGAACCCTGAGAATGTTCAGAGGCAACAAGGATGCCCAATTTACCAGCCCTGTGTCACAGGCCATTTGGAACTTCCGTTCATGCAAGACTGTTCAACCAGACCTGGATGTCATTCACTCCCCTATATCCTTGGCTGCTTTGGAACAAAAAGGAAGCTCTGCAACTCTGAAGTTTGAAGAATTTGTATTTCAAGCCTAAACAAAGCCCTATTTAGTACTCAGTAGTAGTAATAATAACATAACAAC
Task1_train_1928
Given this context: Chromosome 1, gene ATP1A2, LOC126805890 (ATPase Na+/K+ transporting subunit alpha 2| CDK7 strongly-dependent group 2 enhancer GRCh37_chr1:160093987-160095186) — does this variant present pathogenic behavior, and if so, what disease does it relate to?
Pathogenic; Migraine, familial hemiplegic, 2
AAGGGCAGGGACTTTGTTGGTCTTGTCCATCTCTGCATCCGCAGAGTGACAATTGTGCCTGGCACTGGATATACATTTATTAAATGAATGAATGAATGAAAAAAAAAAAAAAAGAAACGGTCCCTGCTTTAAAGGAGCTCAAAGTCTAGTAGCAGAAAAAATGCAATCCTAGGATTCCAATGCAATATGGTGAGTGCAGCTCTAGAATCAAGTATAGAACACCATGGGGAACCAGAAAGAAGCATCTGAACCAGCCTGGGGCTGAGGGAATAGGGCCAGGCAAGGCTTTCTGTGGAAAGTGACAGGTGATTGCCAAAGTTGTGTGACACTGACGGTCAATAATGTAGGACTTGAGCAGGGTGTGGAGGTGCCCACCTGTAGTCTCAGCTACTTGGGAGGCTGAGGTGGAAGGATTGCTTTAGCCCAGGGTTCAAGGATGCAGTGAGCTATAATTGCACCACTGCGCTCCAGCCTGGGCAACATAGCAAGAATCCATCTCTTAAAAAAAAATCTAGGACTCTCCTAGAATCCTTGATAAAATAATCTGAAGGAAGAGAGATGGGGAAAAAACAGTTGAGGTGTCTTTCCAGGGAGCTTATCCAGACTGCCTCCAGGGGAGATGTTATGGCCCTAACCATAGGTGTTGTCTCAATCCAATATAATTAGGGGTCAAGCCCAGTCAAACCCTTCTCAGCCCTCAAGCCCTCCAAGTTGCATCACAAATGCCACCTCCTCCATGTGGTCTCTCCTGATGGTCCCCCACCCCTTCCAACCAGGTGGGACTTTCCTTCTGGGCATTCTTCCCATGCCCGGGAGCTGAAGGGATGGGCATGGTGACTGGCTGGGTTGGCTCCGGATGCGTGCCCCTACGCCTCTCCTTGCTCCCTCAGGGCCTCACCAACCAGCGGGCTCAGGACGTTCTGGCTCGAGATGGGCCCAACGCCCTCACACCACCTCCCACAACCCCTGAGTGGGTCAAGTTCTGCCGTCAGCTTTTCGGGGGGTTCTCCATCCTGCTGTGGATTGGGGCTATCCTCTGCTTCCTGGCCTACGGCATCCAGGCTGCCATGGAGGATGAACCATCCAACGACAATGTGAGCCCACACGCCCGACCCGGGAACAGCCCGTGACTGTCCTCCAACCCTGAACCCCCAACACAGTGGGGGGTGGGCAGGGAACAAGGCCCTCACATAACAGTCCTACAGATGCCCCTGCATCTTAGGCTGGAAAGGGGAGAGGCTTCTATATATATCTGTAAAGTACTCCTCCGCCAACAGTGCATACACATTCACATACTCATTAATTAATGAAACAATCTCTCCCTGTTCCTCCCCGCTTAAGTGAGCCTGTCTGTGTGCCTGGGTCTTCATCCCCTAGCAAAGTCCTAACCCTGGGAACTTCCTAAGACTTTCCCTCCCATTTCTAGTCTTAACAGGCTTGAGGTTGGCAGATCAAGGGGGAGGTTAGTGAGAAGGGCTTTCCCCTACCATCATCACTCTCAGTCACAGACAAAGGTCTGGGCTGTCATCTTGGATGGCACTGCCTGCTCATCCCAAGTGGCAGCTGCCCCTTTAGGGTTGGGGGGAAGGTCAGGTCCCTGAAACTCTTTCTCCTTACCAGCTATATCTGGGTGTGGTGCTGGCAGCTGTGGTCATTGTCACTGGCTGCTTCTCCTACTACCAGGAGGCCAAGAGCTCCAAGATCATGGATTCCTTCAAGAACATGGTACCTCAGGTAAGATGGCAGGGCTGGGCTCTGGGCTAGGCTGTAAGGTTTTGGCAAGAGTCCAGCTCATCTTTTGTCAGCTCCCAGGCTCTAAGATAGAGATGGACAGAAAAGATCCTCCAGCTTTCCATGCCAGCACCTAATTGTTTATGGGGCTTCTCCTTCTGCTTGACGGTGTGGGAGACCAGCAGGAGAAGAAGGCAGGGGCAGAGACAAGCATTTCATGAGCTGCCTGTGGCTCCCCACAGCAAGCCCTTGTGATCCGGGAGGGAGAGAAGATGCAGATCAACGCAGAGGAAGTGGTGGTGGGAGACCTGGTGGAGGTGAAGGGTGGAGACCGCGTCCCTGCTGACCTCCGGATCATCTCTTCTCATGGCTGTAAGGTGAGGAGGTCATACCAGAGCAAGCAGTTGAGTCTAAGGAGAAGGCTGTGTGCAGAGCTGAGAGGGGCCCAGTGAGGTTTAAAGGTGGAGAGACCCAGGTCCAAATGTCAACACCATGCCTATGCCCCTGCTAAACCTTCTCTCAGTGTGGGGTGCTTGTGCAGTGCCTCCTTGCATCTGTGTGTTATGAATGCTCTATGCCCCAGGTATTTCTTTGTTGTCCACTTTTTAGCAATCATGTATTGAATACCAATTATGTGTCAGCTGCTTTATATATGTTCGATGTGCTATCTGATGTAATTCTGAAAGAGTGGTGTAATCATGCAGGGCTGCTGAATGTGGCCACACACGTTGCATCCTGAATGACCCCAGGAGGTGCATTTTCATAACTACAGTGTTAGTGTCTCCCCCTGTGGTTGTGCAAGGCAGAGATTCTGTTTACATTCACCATTTTACAGTTGAGTACATGGAGGCTCTCTTGGTTAAGCAAGTAACCCGAGGTCACATAAGAAGTCAGGAGGAGTCAGAATTCCAAACCAGGGCAGGGGCAATAGATGAGTAATGCCATAAATATGTGATGAGGGCAAGTGTGACTTTGTTCCTCGTGTCATGAAGATTGAGTGTGGTTGGAGGTGGTTCAGGAGACAGCTGTGTGCATACAAGTGGCTCTGCCAGTCTGATGACTATGCACTCCTTCCTCCTCAGGTGGATAACTCATCCTTAACAGGAGAGTCGGAGCCCCAGACCCGCTCCCCCGAGTTCACCCATGAGAACCCCCTGGAGACCCGCAATATCTGTTTCTTCTCCACCAACTGTGTTGAAGGTGAGAAGCCAGGCTGCCCCCTGTAGGAAAGAGTCTGAATCCTGAATCCATAGTCAGGATGAAGGGCTCTGGTAGTACTTACCTGGCAAAAGCTCTGCCATTGGTGGGGCAATTGAGGGGTCAGGGGGCCCTGAATATTATGGAAACACCCTCCACAGAGCAGGGTATTGACTGAGGGCAGCCTGACTCCATGGGAAATGTATCTCCCTTCCCCAGGGAGATCTCTGTTCTGTCCACCCCAAGACTGAGTGGATTTCAAAGCTTTCAGGTATTGGGTTAAGAACCCCTTACGCATGCGCACACACAGATGCACATACGCTCAGAACCAACCTGGATTCTTAGGAGTCTTTGGATTTGATTGATGCTTCTATTCCTTGTGGTTCTGGGCCTCGCTGCCCCCTTCGATAACCTTTGCTTTGGCCAGGGCCCCAGGGTCTGGGAGGGCCAAGAAGGCATTCTGGCCAGGTGAACACTTGGGGCCTACTTCAGGCTGCTTCTAACCTTTGTTACATCAAAAGACATGTTTCACCATGCACAGACTACCCAGTTTGCCCCATCCCTGTTCTGGGTTCTAGAGATAAACAAAGGTCAATAAGAACTCCCAGAGCTGCCATCACTTAATGGCAGGGGTCCAAGCACAACTGAAACCTGTGCCCTCTGTGGTAAAGCCAGTGAGCAGAGTCAGGGCTGCATCAGAGAAGGAGTAGGAGGGAAGAGACAGAAAGAGGCCTCACTAGACCAGTGGCCTCTGAAAATAGGGCAAAGGAGGCCTCATATCCCAATCCACACTTCCCCTGTCCATTACTCATTTCTCCTCAGTGTATTATGTTTCTCTGTGGTTTTTTTCCCTTCTTCGACAAGTTGGAATTCCACTGCTTGGAATCCATGAGGGATTGGTTCCAGGACCCCCTTCGTTACCAAAATCTAAGGATCCTCAAAGGCCCTGATATGAAATCGCATAATATTTGCATATAATCTGCGCACATCCTCCCATATACTTTGAATCAACTCTAGATTACTTATAATACCGAGTGCAATGTAATTTTTATACTGTTTTGTTTTTAAATTTGTATTATTTTTATTGTTGTATTGTTATTTTTATTTAGCTCCAAATATTTTCGATCTGAGGTTGGTTGAATCTATGGACATGGAATCTGTGAATATG
AAGGGCAGGGACTTTGTTGGTCTTGTCCATCTCTGCATCCGCAGAGTGACAATTGTGCCTGGCACTGGATATACATTTATTAAATGAATGAATGAATGAAAAAAAAAAAAAAAGAAACGGTCCCTGCTTTAAAGGAGCTCAAAGTCTAGTAGCAGAAAAAATGCAATCCTAGGATTCCAATGCAATATGGTGAGTGCAGCTCTAGAATCAAGTATAGAACACCATGGGGAACCAGAAAGAAGCATCTGAACCAGCCTGGGGCTGAGGGAATAGGGCCAGGCAAGGCTTTCTGTGGAAAGTGACAGGTGATTGCCAAAGTTGTGTGACACTGACGGTCAATAATGTAGGACTTGAGCAGGGTGTGGAGGTGCCCACCTGTAGTCTCAGCTACTTGGGAGGCTGAGGTGGAAGGATTGCTTTAGCCCAGGGTTCAAGGATGCAGTGAGCTATAATTGCACCACTGCGCTCCAGCCTGGGCAACATAGCAAGAATCCATCTCTTAAAAAAAAATCTAGGACTCTCCTAGAATCCTTGATAAAATAATCTGAAGGAAGAGAGATGGGGAAAAAACAGTTGAGGTGTCTTTCCAGGGAGCTTATCCAGACTGCCTCCAGGGGAGATGTTATGGCCCTAACCATAGGTGTTGTCTCAATCCAATATAATTAGGGGTCAAGCCCAGTCAAACCCTTCTCAGCCCTCAAGCCCTCCAAGTTGCATCACAAATGCCACCTCCTCCATGTGGTCTCTCCTGATGGTCCCCCACCCCTTCCAACCAGGTGGGACTTTCCTTCTGGGCATTCTTCCCATGCCCGGGAGCTGAAGGGATGGGCATGGTGACTGGCTGGGTTGGCTCCGGATGCGTGCCCCTACGCCTCTCCTTGCTCCCTCAGGGCCTCACCAACCAGCGGGCTCAGGACGTTCTGGCTCGAGATGGGCCCAACGCCCTCACACCACCTCCCACAACCCCTGAGTGGGTCAAGTTCTGCCGTCAGCTTTTCGGGGGGTTCTCCATCCTGCTGTGGATTGGGGCTATCCTCTGCTTCCTGGCCTACGGCATCCAGGCTGCCATGGAGGATGAACCATCCAACGACAATGTGAGCCCACACGCCCGACCCGGGAACAGCCCGTGACTGTCCTCCAACCCTGAACCCCCAACACAGTGGGGGGTGGGCAGGGAACAAGGCCCTCACATAACAGTCCTACAGATGCCCCTGCATCTTAGGCTGGAAAGGGGAGAGGCTTCTATATATATCTGTAAAGTACTCCTCCGCCAACAGTGCATACACATTCACATACTCATTAATTAATGAAACAATCTCTCCCTGTTCCTCCCCGCTTAAGTGAGCCTGTCTGTGTGCCTGGGTCTTCATCCCCTAGCAAAGTCCTAACCCTGGGAACTTCCTAAGACTTTCCCTCCCATTTCTAGTCTTAACAGGCTTGAGGTTGGCAGATCAAGGGGGAGGTTAGTGAGAAGGGCTTTCCCCTACCATCATCACTCTCAGTCACAGACAAAGGTCTGGGCTGTCATCTTGGATGGCACTGCCTGCTCATCCCAAGTGGCAGCTGCCCCTTTAGGGTTGGGGGGAAGGTCAGGTCCCTGAAACTCTTTCTCCTTACCAGCTATATCTGGGTGTGGTGCTGGCAGCTGTGGTCATTGTCACTGGCTGCTTCTCCTACTACCAGGAGGCCAAGAGCTCCAAGATCATGGATTCCTTCAAGAACATGGTACCTCAGGTAAGATGGCAGGGCTGGGCTCTGGGCTAGGCTGTAAGGTTTTGGCAAGAGTCCAGCTCATCTTTTGTCAGCTCCCAGGCTCTAAGATAGAGATGGACAGAAAAGATCCTCCAGCTTTCCATGCCAGCACCTAATTGTTTATGGGGCTTCTCCTTCTGCTTGACGGTGTGGGAGACCAGCAGGAGAAGAAGGCAGGGGCAGAGACAAGCATTTCATGAGCTGCCTGTGGCTCCCCACAGCAAGCCCTTGTGATCCGGGAGGGAGAGAAGATGCAGATCAACGCAGAGGAAGTGGTGGTGGGAGACCTGGTGGAGATGAAGGGTGGAGACCGCGTCCCTGCTGACCTCCGGATCATCTCTTCTCATGGCTGTAAGGTGAGGAGGTCATACCAGAGCAAGCAGTTGAGTCTAAGGAGAAGGCTGTGTGCAGAGCTGAGAGGGGCCCAGTGAGGTTTAAAGGTGGAGAGACCCAGGTCCAAATGTCAACACCATGCCTATGCCCCTGCTAAACCTTCTCTCAGTGTGGGGTGCTTGTGCAGTGCCTCCTTGCATCTGTGTGTTATGAATGCTCTATGCCCCAGGTATTTCTTTGTTGTCCACTTTTTAGCAATCATGTATTGAATACCAATTATGTGTCAGCTGCTTTATATATGTTCGATGTGCTATCTGATGTAATTCTGAAAGAGTGGTGTAATCATGCAGGGCTGCTGAATGTGGCCACACACGTTGCATCCTGAATGACCCCAGGAGGTGCATTTTCATAACTACAGTGTTAGTGTCTCCCCCTGTGGTTGTGCAAGGCAGAGATTCTGTTTACATTCACCATTTTACAGTTGAGTACATGGAGGCTCTCTTGGTTAAGCAAGTAACCCGAGGTCACATAAGAAGTCAGGAGGAGTCAGAATTCCAAACCAGGGCAGGGGCAATAGATGAGTAATGCCATAAATATGTGATGAGGGCAAGTGTGACTTTGTTCCTCGTGTCATGAAGATTGAGTGTGGTTGGAGGTGGTTCAGGAGACAGCTGTGTGCATACAAGTGGCTCTGCCAGTCTGATGACTATGCACTCCTTCCTCCTCAGGTGGATAACTCATCCTTAACAGGAGAGTCGGAGCCCCAGACCCGCTCCCCCGAGTTCACCCATGAGAACCCCCTGGAGACCCGCAATATCTGTTTCTTCTCCACCAACTGTGTTGAAGGTGAGAAGCCAGGCTGCCCCCTGTAGGAAAGAGTCTGAATCCTGAATCCATAGTCAGGATGAAGGGCTCTGGTAGTACTTACCTGGCAAAAGCTCTGCCATTGGTGGGGCAATTGAGGGGTCAGGGGGCCCTGAATATTATGGAAACACCCTCCACAGAGCAGGGTATTGACTGAGGGCAGCCTGACTCCATGGGAAATGTATCTCCCTTCCCCAGGGAGATCTCTGTTCTGTCCACCCCAAGACTGAGTGGATTTCAAAGCTTTCAGGTATTGGGTTAAGAACCCCTTACGCATGCGCACACACAGATGCACATACGCTCAGAACCAACCTGGATTCTTAGGAGTCTTTGGATTTGATTGATGCTTCTATTCCTTGTGGTTCTGGGCCTCGCTGCCCCCTTCGATAACCTTTGCTTTGGCCAGGGCCCCAGGGTCTGGGAGGGCCAAGAAGGCATTCTGGCCAGGTGAACACTTGGGGCCTACTTCAGGCTGCTTCTAACCTTTGTTACATCAAAAGACATGTTTCACCATGCACAGACTACCCAGTTTGCCCCATCCCTGTTCTGGGTTCTAGAGATAAACAAAGGTCAATAAGAACTCCCAGAGCTGCCATCACTTAATGGCAGGGGTCCAAGCACAACTGAAACCTGTGCCCTCTGTGGTAAAGCCAGTGAGCAGAGTCAGGGCTGCATCAGAGAAGGAGTAGGAGGGAAGAGACAGAAAGAGGCCTCACTAGACCAGTGGCCTCTGAAAATAGGGCAAAGGAGGCCTCATATCCCAATCCACACTTCCCCTGTCCATTACTCATTTCTCCTCAGTGTATTATGTTTCTCTGTGGTTTTTTTCCCTTCTTCGACAAGTTGGAATTCCACTGCTTGGAATCCATGAGGGATTGGTTCCAGGACCCCCTTCGTTACCAAAATCTAAGGATCCTCAAAGGCCCTGATATGAAATCGCATAATATTTGCATATAATCTGCGCACATCCTCCCATATACTTTGAATCAACTCTAGATTACTTATAATACCGAGTGCAATGTAATTTTTATACTGTTTTGTTTTTAAATTTGTATTATTTTTATTGTTGTATTGTTATTTTTATTTAGCTCCAAATATTTTCGATCTGAGGTTGGTTGAATCTATGGACATGGAATCTGTGAATATG
Task1_train_1929
The gene ATP1A2, LOC126805890 (ATPase Na+/K+ transporting subunit alpha 2| CDK7 strongly-dependent group 2 enhancer GRCh37_chr1:160093987-160095186) on Chromosome 1 contains a mutation. Based on this information, is the variant pathogenic or benign? Provide the disease if relevant.
Pathogenic; Migraine, familial hemiplegic, 2
GGCATTCTTCCCATGCCCGGGAGCTGAAGGGATGGGCATGGTGACTGGCTGGGTTGGCTCCGGATGCGTGCCCCTACGCCTCTCCTTGCTCCCTCAGGGCCTCACCAACCAGCGGGCTCAGGACGTTCTGGCTCGAGATGGGCCCAACGCCCTCACACCACCTCCCACAACCCCTGAGTGGGTCAAGTTCTGCCGTCAGCTTTTCGGGGGGTTCTCCATCCTGCTGTGGATTGGGGCTATCCTCTGCTTCCTGGCCTACGGCATCCAGGCTGCCATGGAGGATGAACCATCCAACGACAATGTGAGCCCACACGCCCGACCCGGGAACAGCCCGTGACTGTCCTCCAACCCTGAACCCCCAACACAGTGGGGGGTGGGCAGGGAACAAGGCCCTCACATAACAGTCCTACAGATGCCCCTGCATCTTAGGCTGGAAAGGGGAGAGGCTTCTATATATATCTGTAAAGTACTCCTCCGCCAACAGTGCATACACATTCACATACTCATTAATTAATGAAACAATCTCTCCCTGTTCCTCCCCGCTTAAGTGAGCCTGTCTGTGTGCCTGGGTCTTCATCCCCTAGCAAAGTCCTAACCCTGGGAACTTCCTAAGACTTTCCCTCCCATTTCTAGTCTTAACAGGCTTGAGGTTGGCAGATCAAGGGGGAGGTTAGTGAGAAGGGCTTTCCCCTACCATCATCACTCTCAGTCACAGACAAAGGTCTGGGCTGTCATCTTGGATGGCACTGCCTGCTCATCCCAAGTGGCAGCTGCCCCTTTAGGGTTGGGGGGAAGGTCAGGTCCCTGAAACTCTTTCTCCTTACCAGCTATATCTGGGTGTGGTGCTGGCAGCTGTGGTCATTGTCACTGGCTGCTTCTCCTACTACCAGGAGGCCAAGAGCTCCAAGATCATGGATTCCTTCAAGAACATGGTACCTCAGGTAAGATGGCAGGGCTGGGCTCTGGGCTAGGCTGTAAGGTTTTGGCAAGAGTCCAGCTCATCTTTTGTCAGCTCCCAGGCTCTAAGATAGAGATGGACAGAAAAGATCCTCCAGCTTTCCATGCCAGCACCTAATTGTTTATGGGGCTTCTCCTTCTGCTTGACGGTGTGGGAGACCAGCAGGAGAAGAAGGCAGGGGCAGAGACAAGCATTTCATGAGCTGCCTGTGGCTCCCCACAGCAAGCCCTTGTGATCCGGGAGGGAGAGAAGATGCAGATCAACGCAGAGGAAGTGGTGGTGGGAGACCTGGTGGAGGTGAAGGGTGGAGACCGCGTCCCTGCTGACCTCCGGATCATCTCTTCTCATGGCTGTAAGGTGAGGAGGTCATACCAGAGCAAGCAGTTGAGTCTAAGGAGAAGGCTGTGTGCAGAGCTGAGAGGGGCCCAGTGAGGTTTAAAGGTGGAGAGACCCAGGTCCAAATGTCAACACCATGCCTATGCCCCTGCTAAACCTTCTCTCAGTGTGGGGTGCTTGTGCAGTGCCTCCTTGCATCTGTGTGTTATGAATGCTCTATGCCCCAGGTATTTCTTTGTTGTCCACTTTTTAGCAATCATGTATTGAATACCAATTATGTGTCAGCTGCTTTATATATGTTCGATGTGCTATCTGATGTAATTCTGAAAGAGTGGTGTAATCATGCAGGGCTGCTGAATGTGGCCACACACGTTGCATCCTGAATGACCCCAGGAGGTGCATTTTCATAACTACAGTGTTAGTGTCTCCCCCTGTGGTTGTGCAAGGCAGAGATTCTGTTTACATTCACCATTTTACAGTTGAGTACATGGAGGCTCTCTTGGTTAAGCAAGTAACCCGAGGTCACATAAGAAGTCAGGAGGAGTCAGAATTCCAAACCAGGGCAGGGGCAATAGATGAGTAATGCCATAAATATGTGATGAGGGCAAGTGTGACTTTGTTCCTCGTGTCATGAAGATTGAGTGTGGTTGGAGGTGGTTCAGGAGACAGCTGTGTGCATACAAGTGGCTCTGCCAGTCTGATGACTATGCACTCCTTCCTCCTCAGGTGGATAACTCATCCTTAACAGGAGAGTCGGAGCCCCAGACCCGCTCCCCCGAGTTCACCCATGAGAACCCCCTGGAGACCCGCAATATCTGTTTCTTCTCCACCAACTGTGTTGAAGGTGAGAAGCCAGGCTGCCCCCTGTAGGAAAGAGTCTGAATCCTGAATCCATAGTCAGGATGAAGGGCTCTGGTAGTACTTACCTGGCAAAAGCTCTGCCATTGGTGGGGCAATTGAGGGGTCAGGGGGCCCTGAATATTATGGAAACACCCTCCACAGAGCAGGGTATTGACTGAGGGCAGCCTGACTCCATGGGAAATGTATCTCCCTTCCCCAGGGAGATCTCTGTTCTGTCCACCCCAAGACTGAGTGGATTTCAAAGCTTTCAGGTATTGGGTTAAGAACCCCTTACGCATGCGCACACACAGATGCACATACGCTCAGAACCAACCTGGATTCTTAGGAGTCTTTGGATTTGATTGATGCTTCTATTCCTTGTGGTTCTGGGCCTCGCTGCCCCCTTCGATAACCTTTGCTTTGGCCAGGGCCCCAGGGTCTGGGAGGGCCAAGAAGGCATTCTGGCCAGGTGAACACTTGGGGCCTACTTCAGGCTGCTTCTAACCTTTGTTACATCAAAAGACATGTTTCACCATGCACAGACTACCCAGTTTGCCCCATCCCTGTTCTGGGTTCTAGAGATAAACAAAGGTCAATAAGAACTCCCAGAGCTGCCATCACTTAATGGCAGGGGTCCAAGCACAACTGAAACCTGTGCCCTCTGTGGTAAAGCCAGTGAGCAGAGTCAGGGCTGCATCAGAGAAGGAGTAGGAGGGAAGAGACAGAAAGAGGCCTCACTAGACCAGTGGCCTCTGAAAATAGGGCAAAGGAGGCCTCATATCCCAATCCACACTTCCCCTGTCCATTACTCATTTCTCCTCAGTGTATTATGTTTCTCTGTGGTTTTTTTCCCTTCTTCGACAAGTTGGAATTCCACTGCTTGGAATCCATGAGGGATTGGTTCCAGGACCCCCTTCGTTACCAAAATCTAAGGATCCTCAAAGGCCCTGATATGAAATCGCATAATATTTGCATATAATCTGCGCACATCCTCCCATATACTTTGAATCAACTCTAGATTACTTATAATACCGAGTGCAATGTAATTTTTATACTGTTTTGTTTTTAAATTTGTATTATTTTTATTGTTGTATTGTTATTTTTATTTAGCTCCAAATATTTTCGATCTGAGGTTGGTTGAATCTATGGACATGGAATCTGTGAATATGGAGGGCCAACTGTACAAATAAAAATCACCACACATTACATTTCCTAAGTTTGTTTTTTGTTTTGCTTTTGAGACAAGATCTTGCTTTGTCACCCAGACTGGAGTGCAGTGGTGCAATCACAGCTCACTGCAGCCTTGACCTCCCAGGCTCAAGCGATCTCCCACCTCAGCCTCCAGAGTATTTGGGACTACAGGCGCGTGATACCACACCCAGCTAATATATATATATGTATATTAGAGATGGGGTCTCACTATGTTACCCAGGCTGGCCTCAAACTCCTGGGCTCAAGTGATCCTCCTGCCTCAGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCGAGCCTGGCCAAATTTCCTAAATTTTTAATGTACTGAGATTTTGAAATTTACATTTCCCACAATTGATTTATTCAGAAATGCCTAGTAATACATTCCTATTGCTTACTCTGCAATTGGCTTTGAAAAGAGGAAAGGAAATAAATGAGATATTTGTTGAGCACCCGCTATGTTCCAGGCACTGGCCTAAGTATATTAAAGCACAATCTCATCTAAATATTAAAACAGCACCGAGATAGGAATTCAAATAAGGATTCAAACCCAAATTTGGCTGGCTCCAATGTGCATGCTTTTTTCAATACACCACCCTTCCTTCCCAGAAGACCCCTGTAATGTCACACAAGGGTTAGCAATTGCCTGGCTTCCTCTATAGAGATTCATGCCTAATGTTGAGAAAGAAAATCTTAAGACTGGATGGAAAATCCATAATGAGTGCTTTACTTTGTGTTCATA
GGCATTCTTCCCATGCCCGGGAGCTGAAGGGATGGGCATGGTGACTGGCTGGGTTGGCTCCGGATGCGTGCCCCTACGCCTCTCCTTGCTCCCTCAGGGCCTCACCAACCAGCGGGCTCAGGACGTTCTGGCTCGAGATGGGCCCAACGCCCTCACACCACCTCCCACAACCCCTGAGTGGGTCAAGTTCTGCCGTCAGCTTTTCGGGGGGTTCTCCATCCTGCTGTGGATTGGGGCTATCCTCTGCTTCCTGGCCTACGGCATCCAGGCTGCCATGGAGGATGAACCATCCAACGACAATGTGAGCCCACACGCCCGACCCGGGAACAGCCCGTGACTGTCCTCCAACCCTGAACCCCCAACACAGTGGGGGGTGGGCAGGGAACAAGGCCCTCACATAACAGTCCTACAGATGCCCCTGCATCTTAGGCTGGAAAGGGGAGAGGCTTCTATATATATCTGTAAAGTACTCCTCCGCCAACAGTGCATACACATTCACATACTCATTAATTAATGAAACAATCTCTCCCTGTTCCTCCCCGCTTAAGTGAGCCTGTCTGTGTGCCTGGGTCTTCATCCCCTAGCAAAGTCCTAACCCTGGGAACTTCCTAAGACTTTCCCTCCCATTTCTAGTCTTAACAGGCTTGAGGTTGGCAGATCAAGGGGGAGGTTAGTGAGAAGGGCTTTCCCCTACCATCATCACTCTCAGTCACAGACAAAGGTCTGGGCTGTCATCTTGGATGGCACTGCCTGCTCATCCCAAGTGGCAGCTGCCCCTTTAGGGTTGGGGGGAAGGTCAGGTCCCTGAAACTCTTTCTCCTTACCAGCTATATCTGGGTGTGGTGCTGGCAGCTGTGGTCATTGTCACTGGCTGCTTCTCCTACTACCAGGAGGCCAAGAGCTCCAAGATCATGGATTCCTTCAAGAACATGGTACCTCAGGTAAGATGGCAGGGCTGGGCTCTGGGCTAGGCTGTAAGGTTTTGGCAAGAGTCCAGCTCATCTTTTGTCAGCTCCCAGGCTCTAAGATAGAGATGGACAGAAAAGATCCTCCAGCTTTCCATGCCAGCACCTAATTGTTTATGGGGCTTCTCCTTCTGCTTGACGGTGTGGGAGACCAGCAGGAGAAGAAGGCAGGGGCAGAGACAAGCATTTCATGAGCTGCCTGTGGCTCCCCACAGCAAGCCCTTGTGATCCGGGAGGGAGAGAAGATGCAGATCAACGCAGAGGAAGTGGTGGTGGGAGACCTGGTGGAGGTGAAGGGTGGAGACCGCGTCCCTGCTGACCTCCGGATCATCTCTTCTCATGGCTGTAAGGTGAGGAGGTCATACCAGAGCAAGCAGTTGAGTCTAAGGAGAAGGCTGTGTGCAGAGCTGAGAGGGGCCCAGTGAGGTTTAAAGGTGGAGAGACCCAGGTCCAAATGTCAACACCATGCCTATGCCCCTGCTAAACCTTCTCTCAGTGTGGGGTGCTTGTGCAGTGCCTCCTTGCATCTGTGTGTTATGAATGCTCTATGCCCCAGGTATTTCTTTGTTGTCCACTTTTTAGCAATCATGTATTGAATACCAATTATGTGTCAGCTGCTTTATATATGTTCGATGTGCTATCTGATGTAATTCTGAAAGAGTGGTGTAATCATGCAGGGCTGCTGAATGTGGCCACACACGTTGCATCCTGAATGACCCCAGGAGGTGCATTTTCATAACTACAGTGTTAGTGTCTCCCCCTGTGGTTGTGCAAGGCAGAGATTCTGTTTACATTCACCATTTTACAGTTGAGTACATGGAGGCTCTCTTGGTTAAGCAAGTAACCCGAGGTCACATAAGAAGTCAGGAGGAGTCAGAATTCCAAACCAGGGCAGGGGCAATAGATGAGTAATGCCATAAATATGTGATGAGGGCAAGTGTGACTTTGTTCCTCGTGTCATGAAGATTGAGTGTGGTTGGAGGTGGTTCAGGAGACAGCTGTGTGCATACAAGTGGCTCTGCCAGTCTGATGACTATGCACTCCTTCCTCCTCAGGTGGATAACTCATCCTTAACAGGAGAGTTGGAGCCCCAGACCCGCTCCCCCGAGTTCACCCATGAGAACCCCCTGGAGACCCGCAATATCTGTTTCTTCTCCACCAACTGTGTTGAAGGTGAGAAGCCAGGCTGCCCCCTGTAGGAAAGAGTCTGAATCCTGAATCCATAGTCAGGATGAAGGGCTCTGGTAGTACTTACCTGGCAAAAGCTCTGCCATTGGTGGGGCAATTGAGGGGTCAGGGGGCCCTGAATATTATGGAAACACCCTCCACAGAGCAGGGTATTGACTGAGGGCAGCCTGACTCCATGGGAAATGTATCTCCCTTCCCCAGGGAGATCTCTGTTCTGTCCACCCCAAGACTGAGTGGATTTCAAAGCTTTCAGGTATTGGGTTAAGAACCCCTTACGCATGCGCACACACAGATGCACATACGCTCAGAACCAACCTGGATTCTTAGGAGTCTTTGGATTTGATTGATGCTTCTATTCCTTGTGGTTCTGGGCCTCGCTGCCCCCTTCGATAACCTTTGCTTTGGCCAGGGCCCCAGGGTCTGGGAGGGCCAAGAAGGCATTCTGGCCAGGTGAACACTTGGGGCCTACTTCAGGCTGCTTCTAACCTTTGTTACATCAAAAGACATGTTTCACCATGCACAGACTACCCAGTTTGCCCCATCCCTGTTCTGGGTTCTAGAGATAAACAAAGGTCAATAAGAACTCCCAGAGCTGCCATCACTTAATGGCAGGGGTCCAAGCACAACTGAAACCTGTGCCCTCTGTGGTAAAGCCAGTGAGCAGAGTCAGGGCTGCATCAGAGAAGGAGTAGGAGGGAAGAGACAGAAAGAGGCCTCACTAGACCAGTGGCCTCTGAAAATAGGGCAAAGGAGGCCTCATATCCCAATCCACACTTCCCCTGTCCATTACTCATTTCTCCTCAGTGTATTATGTTTCTCTGTGGTTTTTTTCCCTTCTTCGACAAGTTGGAATTCCACTGCTTGGAATCCATGAGGGATTGGTTCCAGGACCCCCTTCGTTACCAAAATCTAAGGATCCTCAAAGGCCCTGATATGAAATCGCATAATATTTGCATATAATCTGCGCACATCCTCCCATATACTTTGAATCAACTCTAGATTACTTATAATACCGAGTGCAATGTAATTTTTATACTGTTTTGTTTTTAAATTTGTATTATTTTTATTGTTGTATTGTTATTTTTATTTAGCTCCAAATATTTTCGATCTGAGGTTGGTTGAATCTATGGACATGGAATCTGTGAATATGGAGGGCCAACTGTACAAATAAAAATCACCACACATTACATTTCCTAAGTTTGTTTTTTGTTTTGCTTTTGAGACAAGATCTTGCTTTGTCACCCAGACTGGAGTGCAGTGGTGCAATCACAGCTCACTGCAGCCTTGACCTCCCAGGCTCAAGCGATCTCCCACCTCAGCCTCCAGAGTATTTGGGACTACAGGCGCGTGATACCACACCCAGCTAATATATATATATGTATATTAGAGATGGGGTCTCACTATGTTACCCAGGCTGGCCTCAAACTCCTGGGCTCAAGTGATCCTCCTGCCTCAGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCGAGCCTGGCCAAATTTCCTAAATTTTTAATGTACTGAGATTTTGAAATTTACATTTCCCACAATTGATTTATTCAGAAATGCCTAGTAATACATTCCTATTGCTTACTCTGCAATTGGCTTTGAAAAGAGGAAAGGAAATAAATGAGATATTTGTTGAGCACCCGCTATGTTCCAGGCACTGGCCTAAGTATATTAAAGCACAATCTCATCTAAATATTAAAACAGCACCGAGATAGGAATTCAAATAAGGATTCAAACCCAAATTTGGCTGGCTCCAATGTGCATGCTTTTTTCAATACACCACCCTTCCTTCCCAGAAGACCCCTGTAATGTCACACAAGGGTTAGCAATTGCCTGGCTTCCTCTATAGAGATTCATGCCTAATGTTGAGAAAGAAAATCTTAAGACTGGATGGAAAATCCATAATGAGTGCTTTACTTTGTGTTCATA
Task1_train_1930
Given this variant in gene ATP1A2, LOC126805890 (ATPase Na+/K+ transporting subunit alpha 2| CDK7 strongly-dependent group 2 enhancer GRCh37_chr1:160093987-160095186) on Chromosome 1, classify it as benign or pathogenic. Include the disorder it may cause if applicable.
Pathogenic; Familial hemiplegic migraine
GGCATTCTTCCCATGCCCGGGAGCTGAAGGGATGGGCATGGTGACTGGCTGGGTTGGCTCCGGATGCGTGCCCCTACGCCTCTCCTTGCTCCCTCAGGGCCTCACCAACCAGCGGGCTCAGGACGTTCTGGCTCGAGATGGGCCCAACGCCCTCACACCACCTCCCACAACCCCTGAGTGGGTCAAGTTCTGCCGTCAGCTTTTCGGGGGGTTCTCCATCCTGCTGTGGATTGGGGCTATCCTCTGCTTCCTGGCCTACGGCATCCAGGCTGCCATGGAGGATGAACCATCCAACGACAATGTGAGCCCACACGCCCGACCCGGGAACAGCCCGTGACTGTCCTCCAACCCTGAACCCCCAACACAGTGGGGGGTGGGCAGGGAACAAGGCCCTCACATAACAGTCCTACAGATGCCCCTGCATCTTAGGCTGGAAAGGGGAGAGGCTTCTATATATATCTGTAAAGTACTCCTCCGCCAACAGTGCATACACATTCACATACTCATTAATTAATGAAACAATCTCTCCCTGTTCCTCCCCGCTTAAGTGAGCCTGTCTGTGTGCCTGGGTCTTCATCCCCTAGCAAAGTCCTAACCCTGGGAACTTCCTAAGACTTTCCCTCCCATTTCTAGTCTTAACAGGCTTGAGGTTGGCAGATCAAGGGGGAGGTTAGTGAGAAGGGCTTTCCCCTACCATCATCACTCTCAGTCACAGACAAAGGTCTGGGCTGTCATCTTGGATGGCACTGCCTGCTCATCCCAAGTGGCAGCTGCCCCTTTAGGGTTGGGGGGAAGGTCAGGTCCCTGAAACTCTTTCTCCTTACCAGCTATATCTGGGTGTGGTGCTGGCAGCTGTGGTCATTGTCACTGGCTGCTTCTCCTACTACCAGGAGGCCAAGAGCTCCAAGATCATGGATTCCTTCAAGAACATGGTACCTCAGGTAAGATGGCAGGGCTGGGCTCTGGGCTAGGCTGTAAGGTTTTGGCAAGAGTCCAGCTCATCTTTTGTCAGCTCCCAGGCTCTAAGATAGAGATGGACAGAAAAGATCCTCCAGCTTTCCATGCCAGCACCTAATTGTTTATGGGGCTTCTCCTTCTGCTTGACGGTGTGGGAGACCAGCAGGAGAAGAAGGCAGGGGCAGAGACAAGCATTTCATGAGCTGCCTGTGGCTCCCCACAGCAAGCCCTTGTGATCCGGGAGGGAGAGAAGATGCAGATCAACGCAGAGGAAGTGGTGGTGGGAGACCTGGTGGAGGTGAAGGGTGGAGACCGCGTCCCTGCTGACCTCCGGATCATCTCTTCTCATGGCTGTAAGGTGAGGAGGTCATACCAGAGCAAGCAGTTGAGTCTAAGGAGAAGGCTGTGTGCAGAGCTGAGAGGGGCCCAGTGAGGTTTAAAGGTGGAGAGACCCAGGTCCAAATGTCAACACCATGCCTATGCCCCTGCTAAACCTTCTCTCAGTGTGGGGTGCTTGTGCAGTGCCTCCTTGCATCTGTGTGTTATGAATGCTCTATGCCCCAGGTATTTCTTTGTTGTCCACTTTTTAGCAATCATGTATTGAATACCAATTATGTGTCAGCTGCTTTATATATGTTCGATGTGCTATCTGATGTAATTCTGAAAGAGTGGTGTAATCATGCAGGGCTGCTGAATGTGGCCACACACGTTGCATCCTGAATGACCCCAGGAGGTGCATTTTCATAACTACAGTGTTAGTGTCTCCCCCTGTGGTTGTGCAAGGCAGAGATTCTGTTTACATTCACCATTTTACAGTTGAGTACATGGAGGCTCTCTTGGTTAAGCAAGTAACCCGAGGTCACATAAGAAGTCAGGAGGAGTCAGAATTCCAAACCAGGGCAGGGGCAATAGATGAGTAATGCCATAAATATGTGATGAGGGCAAGTGTGACTTTGTTCCTCGTGTCATGAAGATTGAGTGTGGTTGGAGGTGGTTCAGGAGACAGCTGTGTGCATACAAGTGGCTCTGCCAGTCTGATGACTATGCACTCCTTCCTCCTCAGGTGGATAACTCATCCTTAACAGGAGAGTCGGAGCCCCAGACCCGCTCCCCCGAGTTCACCCATGAGAACCCCCTGGAGACCCGCAATATCTGTTTCTTCTCCACCAACTGTGTTGAAGGTGAGAAGCCAGGCTGCCCCCTGTAGGAAAGAGTCTGAATCCTGAATCCATAGTCAGGATGAAGGGCTCTGGTAGTACTTACCTGGCAAAAGCTCTGCCATTGGTGGGGCAATTGAGGGGTCAGGGGGCCCTGAATATTATGGAAACACCCTCCACAGAGCAGGGTATTGACTGAGGGCAGCCTGACTCCATGGGAAATGTATCTCCCTTCCCCAGGGAGATCTCTGTTCTGTCCACCCCAAGACTGAGTGGATTTCAAAGCTTTCAGGTATTGGGTTAAGAACCCCTTACGCATGCGCACACACAGATGCACATACGCTCAGAACCAACCTGGATTCTTAGGAGTCTTTGGATTTGATTGATGCTTCTATTCCTTGTGGTTCTGGGCCTCGCTGCCCCCTTCGATAACCTTTGCTTTGGCCAGGGCCCCAGGGTCTGGGAGGGCCAAGAAGGCATTCTGGCCAGGTGAACACTTGGGGCCTACTTCAGGCTGCTTCTAACCTTTGTTACATCAAAAGACATGTTTCACCATGCACAGACTACCCAGTTTGCCCCATCCCTGTTCTGGGTTCTAGAGATAAACAAAGGTCAATAAGAACTCCCAGAGCTGCCATCACTTAATGGCAGGGGTCCAAGCACAACTGAAACCTGTGCCCTCTGTGGTAAAGCCAGTGAGCAGAGTCAGGGCTGCATCAGAGAAGGAGTAGGAGGGAAGAGACAGAAAGAGGCCTCACTAGACCAGTGGCCTCTGAAAATAGGGCAAAGGAGGCCTCATATCCCAATCCACACTTCCCCTGTCCATTACTCATTTCTCCTCAGTGTATTATGTTTCTCTGTGGTTTTTTTCCCTTCTTCGACAAGTTGGAATTCCACTGCTTGGAATCCATGAGGGATTGGTTCCAGGACCCCCTTCGTTACCAAAATCTAAGGATCCTCAAAGGCCCTGATATGAAATCGCATAATATTTGCATATAATCTGCGCACATCCTCCCATATACTTTGAATCAACTCTAGATTACTTATAATACCGAGTGCAATGTAATTTTTATACTGTTTTGTTTTTAAATTTGTATTATTTTTATTGTTGTATTGTTATTTTTATTTAGCTCCAAATATTTTCGATCTGAGGTTGGTTGAATCTATGGACATGGAATCTGTGAATATGGAGGGCCAACTGTACAAATAAAAATCACCACACATTACATTTCCTAAGTTTGTTTTTTGTTTTGCTTTTGAGACAAGATCTTGCTTTGTCACCCAGACTGGAGTGCAGTGGTGCAATCACAGCTCACTGCAGCCTTGACCTCCCAGGCTCAAGCGATCTCCCACCTCAGCCTCCAGAGTATTTGGGACTACAGGCGCGTGATACCACACCCAGCTAATATATATATATGTATATTAGAGATGGGGTCTCACTATGTTACCCAGGCTGGCCTCAAACTCCTGGGCTCAAGTGATCCTCCTGCCTCAGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCGAGCCTGGCCAAATTTCCTAAATTTTTAATGTACTGAGATTTTGAAATTTACATTTCCCACAATTGATTTATTCAGAAATGCCTAGTAATACATTCCTATTGCTTACTCTGCAATTGGCTTTGAAAAGAGGAAAGGAAATAAATGAGATATTTGTTGAGCACCCGCTATGTTCCAGGCACTGGCCTAAGTATATTAAAGCACAATCTCATCTAAATATTAAAACAGCACCGAGATAGGAATTCAAATAAGGATTCAAACCCAAATTTGGCTGGCTCCAATGTGCATGCTTTTTTCAATACACCACCCTTCCTTCCCAGAAGACCCCTGTAATGTCACACAAGGGTTAGCAATTGCCTGGCTTCCTCTATAGAGATTCATGCCTAATGTTGAGAAAGAAAATCTTAAGACTGGATGGAAAATCCATAATGAGTGCTTTACTTTGTGTTCATA
GGCATTCTTCCCATGCCCGGGAGCTGAAGGGATGGGCATGGTGACTGGCTGGGTTGGCTCCGGATGCGTGCCCCTACGCCTCTCCTTGCTCCCTCAGGGCCTCACCAACCAGCGGGCTCAGGACGTTCTGGCTCGAGATGGGCCCAACGCCCTCACACCACCTCCCACAACCCCTGAGTGGGTCAAGTTCTGCCGTCAGCTTTTCGGGGGGTTCTCCATCCTGCTGTGGATTGGGGCTATCCTCTGCTTCCTGGCCTACGGCATCCAGGCTGCCATGGAGGATGAACCATCCAACGACAATGTGAGCCCACACGCCCGACCCGGGAACAGCCCGTGACTGTCCTCCAACCCTGAACCCCCAACACAGTGGGGGGTGGGCAGGGAACAAGGCCCTCACATAACAGTCCTACAGATGCCCCTGCATCTTAGGCTGGAAAGGGGAGAGGCTTCTATATATATCTGTAAAGTACTCCTCCGCCAACAGTGCATACACATTCACATACTCATTAATTAATGAAACAATCTCTCCCTGTTCCTCCCCGCTTAAGTGAGCCTGTCTGTGTGCCTGGGTCTTCATCCCCTAGCAAAGTCCTAACCCTGGGAACTTCCTAAGACTTTCCCTCCCATTTCTAGTCTTAACAGGCTTGAGGTTGGCAGATCAAGGGGGAGGTTAGTGAGAAGGGCTTTCCCCTACCATCATCACTCTCAGTCACAGACAAAGGTCTGGGCTGTCATCTTGGATGGCACTGCCTGCTCATCCCAAGTGGCAGCTGCCCCTTTAGGGTTGGGGGGAAGGTCAGGTCCCTGAAACTCTTTCTCCTTACCAGCTATATCTGGGTGTGGTGCTGGCAGCTGTGGTCATTGTCACTGGCTGCTTCTCCTACTACCAGGAGGCCAAGAGCTCCAAGATCATGGATTCCTTCAAGAACATGGTACCTCAGGTAAGATGGCAGGGCTGGGCTCTGGGCTAGGCTGTAAGGTTTTGGCAAGAGTCCAGCTCATCTTTTGTCAGCTCCCAGGCTCTAAGATAGAGATGGACAGAAAAGATCCTCCAGCTTTCCATGCCAGCACCTAATTGTTTATGGGGCTTCTCCTTCTGCTTGACGGTGTGGGAGACCAGCAGGAGAAGAAGGCAGGGGCAGAGACAAGCATTTCATGAGCTGCCTGTGGCTCCCCACAGCAAGCCCTTGTGATCCGGGAGGGAGAGAAGATGCAGATCAACGCAGAGGAAGTGGTGGTGGGAGACCTGGTGGAGGTGAAGGGTGGAGACCGCGTCCCTGCTGACCTCCGGATCATCTCTTCTCATGGCTGTAAGGTGAGGAGGTCATACCAGAGCAAGCAGTTGAGTCTAAGGAGAAGGCTGTGTGCAGAGCTGAGAGGGGCCCAGTGAGGTTTAAAGGTGGAGAGACCCAGGTCCAAATGTCAACACCATGCCTATGCCCCTGCTAAACCTTCTCTCAGTGTGGGGTGCTTGTGCAGTGCCTCCTTGCATCTGTGTGTTATGAATGCTCTATGCCCCAGGTATTTCTTTGTTGTCCACTTTTTAGCAATCATGTATTGAATACCAATTATGTGTCAGCTGCTTTATATATGTTCGATGTGCTATCTGATGTAATTCTGAAAGAGTGGTGTAATCATGCAGGGCTGCTGAATGTGGCCACACACGTTGCATCCTGAATGACCCCAGGAGGTGCATTTTCATAACTACAGTGTTAGTGTCTCCCCCTGTGGTTGTGCAAGGCAGAGATTCTGTTTACATTCACCATTTTACAGTTGAGTACATGGAGGCTCTCTTGGTTAAGCAAGTAACCCGAGGTCACATAAGAAGTCAGGAGGAGTCAGAATTCCAAACCAGGGCAGGGGCAATAGATGAGTAATGCCATAAATATGTGATGAGGGCAAGTGTGACTTTGTTCCTCGTGTCATGAAGATTGAGTGTGGTTGGAGGTGGTTCAGGAGACAGCTGTGTGCATACAAGTGGCTCTGCCAGTCTGATGACTATGCACTCCTTCCTCCTCAGGTGGATAACTCATCCTTAACAGGAGAGTTGGAGCCCCAGACCCGCTCCCCCGAGTTCACCCATGAGAACCCCCTGGAGACCCGCAATATCTGTTTCTTCTCCACCAACTGTGTTGAAGGTGAGAAGCCAGGCTGCCCCCTGTAGGAAAGAGTCTGAATCCTGAATCCATAGTCAGGATGAAGGGCTCTGGTAGTACTTACCTGGCAAAAGCTCTGCCATTGGTGGGGCAATTGAGGGGTCAGGGGGCCCTGAATATTATGGAAACACCCTCCACAGAGCAGGGTATTGACTGAGGGCAGCCTGACTCCATGGGAAATGTATCTCCCTTCCCCAGGGAGATCTCTGTTCTGTCCACCCCAAGACTGAGTGGATTTCAAAGCTTTCAGGTATTGGGTTAAGAACCCCTTACGCATGCGCACACACAGATGCACATACGCTCAGAACCAACCTGGATTCTTAGGAGTCTTTGGATTTGATTGATGCTTCTATTCCTTGTGGTTCTGGGCCTCGCTGCCCCCTTCGATAACCTTTGCTTTGGCCAGGGCCCCAGGGTCTGGGAGGGCCAAGAAGGCATTCTGGCCAGGTGAACACTTGGGGCCTACTTCAGGCTGCTTCTAACCTTTGTTACATCAAAAGACATGTTTCACCATGCACAGACTACCCAGTTTGCCCCATCCCTGTTCTGGGTTCTAGAGATAAACAAAGGTCAATAAGAACTCCCAGAGCTGCCATCACTTAATGGCAGGGGTCCAAGCACAACTGAAACCTGTGCCCTCTGTGGTAAAGCCAGTGAGCAGAGTCAGGGCTGCATCAGAGAAGGAGTAGGAGGGAAGAGACAGAAAGAGGCCTCACTAGACCAGTGGCCTCTGAAAATAGGGCAAAGGAGGCCTCATATCCCAATCCACACTTCCCCTGTCCATTACTCATTTCTCCTCAGTGTATTATGTTTCTCTGTGGTTTTTTTCCCTTCTTCGACAAGTTGGAATTCCACTGCTTGGAATCCATGAGGGATTGGTTCCAGGACCCCCTTCGTTACCAAAATCTAAGGATCCTCAAAGGCCCTGATATGAAATCGCATAATATTTGCATATAATCTGCGCACATCCTCCCATATACTTTGAATCAACTCTAGATTACTTATAATACCGAGTGCAATGTAATTTTTATACTGTTTTGTTTTTAAATTTGTATTATTTTTATTGTTGTATTGTTATTTTTATTTAGCTCCAAATATTTTCGATCTGAGGTTGGTTGAATCTATGGACATGGAATCTGTGAATATGGAGGGCCAACTGTACAAATAAAAATCACCACACATTACATTTCCTAAGTTTGTTTTTTGTTTTGCTTTTGAGACAAGATCTTGCTTTGTCACCCAGACTGGAGTGCAGTGGTGCAATCACAGCTCACTGCAGCCTTGACCTCCCAGGCTCAAGCGATCTCCCACCTCAGCCTCCAGAGTATTTGGGACTACAGGCGCGTGATACCACACCCAGCTAATATATATATATGTATATTAGAGATGGGGTCTCACTATGTTACCCAGGCTGGCCTCAAACTCCTGGGCTCAAGTGATCCTCCTGCCTCAGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCGAGCCTGGCCAAATTTCCTAAATTTTTAATGTACTGAGATTTTGAAATTTACATTTCCCACAATTGATTTATTCAGAAATGCCTAGTAATACATTCCTATTGCTTACTCTGCAATTGGCTTTGAAAAGAGGAAAGGAAATAAATGAGATATTTGTTGAGCACCCGCTATGTTCCAGGCACTGGCCTAAGTATATTAAAGCACAATCTCATCTAAATATTAAAACAGCACCGAGATAGGAATTCAAATAAGGATTCAAACCCAAATTTGGCTGGCTCCAATGTGCATGCTTTTTTCAATACACCACCCTTCCTTCCCAGAAGACCCCTGTAATGTCACACAAGGGTTAGCAATTGCCTGGCTTCCTCTATAGAGATTCATGCCTAATGTTGAGAAAGAAAATCTTAAGACTGGATGGAAAATCCATAATGAGTGCTTTACTTTGTGTTCATA
Task1_train_1931
The gene ATP1A2 (ATPase Na+/K+ transporting subunit alpha 2) on Chromosome 1 contains a mutation. Based on this information, is the variant pathogenic or benign? Provide the disease if relevant.
Pathogenic; Inborn genetic diseases
TTCTGGGCCTCGCTGCCCCCTTCGATAACCTTTGCTTTGGCCAGGGCCCCAGGGTCTGGGAGGGCCAAGAAGGCATTCTGGCCAGGTGAACACTTGGGGCCTACTTCAGGCTGCTTCTAACCTTTGTTACATCAAAAGACATGTTTCACCATGCACAGACTACCCAGTTTGCCCCATCCCTGTTCTGGGTTCTAGAGATAAACAAAGGTCAATAAGAACTCCCAGAGCTGCCATCACTTAATGGCAGGGGTCCAAGCACAACTGAAACCTGTGCCCTCTGTGGTAAAGCCAGTGAGCAGAGTCAGGGCTGCATCAGAGAAGGAGTAGGAGGGAAGAGACAGAAAGAGGCCTCACTAGACCAGTGGCCTCTGAAAATAGGGCAAAGGAGGCCTCATATCCCAATCCACACTTCCCCTGTCCATTACTCATTTCTCCTCAGTGTATTATGTTTCTCTGTGGTTTTTTTCCCTTCTTCGACAAGTTGGAATTCCACTGCTTGGAATCCATGAGGGATTGGTTCCAGGACCCCCTTCGTTACCAAAATCTAAGGATCCTCAAAGGCCCTGATATGAAATCGCATAATATTTGCATATAATCTGCGCACATCCTCCCATATACTTTGAATCAACTCTAGATTACTTATAATACCGAGTGCAATGTAATTTTTATACTGTTTTGTTTTTAAATTTGTATTATTTTTATTGTTGTATTGTTATTTTTATTTAGCTCCAAATATTTTCGATCTGAGGTTGGTTGAATCTATGGACATGGAATCTGTGAATATGGAGGGCCAACTGTACAAATAAAAATCACCACACATTACATTTCCTAAGTTTGTTTTTTGTTTTGCTTTTGAGACAAGATCTTGCTTTGTCACCCAGACTGGAGTGCAGTGGTGCAATCACAGCTCACTGCAGCCTTGACCTCCCAGGCTCAAGCGATCTCCCACCTCAGCCTCCAGAGTATTTGGGACTACAGGCGCGTGATACCACACCCAGCTAATATATATATATGTATATTAGAGATGGGGTCTCACTATGTTACCCAGGCTGGCCTCAAACTCCTGGGCTCAAGTGATCCTCCTGCCTCAGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCGAGCCTGGCCAAATTTCCTAAATTTTTAATGTACTGAGATTTTGAAATTTACATTTCCCACAATTGATTTATTCAGAAATGCCTAGTAATACATTCCTATTGCTTACTCTGCAATTGGCTTTGAAAAGAGGAAAGGAAATAAATGAGATATTTGTTGAGCACCCGCTATGTTCCAGGCACTGGCCTAAGTATATTAAAGCACAATCTCATCTAAATATTAAAACAGCACCGAGATAGGAATTCAAATAAGGATTCAAACCCAAATTTGGCTGGCTCCAATGTGCATGCTTTTTTCAATACACCACCCTTCCTTCCCAGAAGACCCCTGTAATGTCACACAAGGGTTAGCAATTGCCTGGCTTCCTCTATAGAGATTCATGCCTAATGTTGAGAAAGAAAATCTTAAGACTGGATGGAAAATCCATAATGAGTGCTTTACTTTGTGTTCATAATATACTTTTGGATGGTATCAAGTATGGGAATGATTTTACCAAAATGCCACAGGCAATTTTTATTTATTGAATCTTGTCTATTTGAACTTTGAGATTATTTGCAAGCTTCTCCCCAGGCTCGAGTACAAGAGAAAATAATTTGCTGTTGTATTGATTCAAGGATTGGCGATCTATCCAGGGAAAGGAAGGCCAAGTGGGGACAACCTACTGAATGTGGCCTCCAGATCTGCGGCTTTGGCTCACCTATCCTGTGATGATTTTCCTTGCTCAGGAAATAGGATGGGACTGCAGTCCCTGGGAGCCACAAGGCACCCAACCTGATGCCCCACCATGTTGCAGGCACTGCCAGGGGCATTGTGATTGCCACAGGAGACCGGACGGTGATGGGCCGCATAGCTACTCTCGCCTCAGGCCTGGAGGTTGGGCGGACACCCATAGCAATGGAGATTGAACACTTCATCCAGCTGATCACAGGGGTCGCTGTATTCCTGGGGGTCTCCTTCTTCGTGCTCTCCCTCATCCTGGGCTACAGCTGGCTGGAGGCAGTCATCTTCCTCATCGGCATCATAGTGGCCAACGTGCCTGAGGGGCTTCTGGCCACTGTCACTGTGAGTGGGTCAGGCTGAGGTGCCACCAGGGGAGGGTCTCACTACTCTTTCCTCAGAGTGATAGAGGCACAGTTGCTTGTAGCTTCTCACTACTTTTTCCCCCTAGAGTCACTTATTGGATGCGATACTCAGAGATCACTTAATACATGGCTTAGGGTATGAGTTGAGAAATCTCAGGTGGGGCTATTCTTAGGCACTCAGTTTCTCTTTTGGAGCTTGTCACGGCTGCCTTTTCTCACGATCTGCCAGCAGTCTGGGTCTCATTCCGTCCAAGTCTCCTGTAGAGGCTGTCTCAAAGGTCACCAGTCACTAACTAGCAAATCCAGGGACCTTTTCTCAGCTCTCCTCCCTAACTCTGCTGCTGAAACAGATACTGCTGTCCACCCTCCTACCATTCTCTCTTTTGTCGATTGCTGTGATGTGTCACTATCCTGGTTCGCCTCTCCTCTGTCCCTTCCTGCTCCCCCTACACTGATTCTCAGGCCTCAGCTGTCTGTTCTTCCTACACCCTGAGCAAGAGCCAATCTCCTCCCAGTTTGCAGTGTCCCTTCTGTGTTGATGACTCAGACATCCCTATGCTCAGCTCTGCTCTGGCCCTCTCTGGAGCTCTAGTCAAACGTCTTAAACCCCCTAATGGGCATTTCATCTTAACAGATACTCATGATCTCAACACATCTAAAATTGAACATTCATTATTTACAGCTAAGTCCCACCCATTCAAGTTAGTGGAGTAGAATCAGGGGAGGAGGAATGGAGCCACGGTCTAGGGTAAGGTTATGGCCATCTCCGGCTTCAGCCTTAACCTTTTTTATTCTCCTCTTTCTCTACCAGGTGTGCCTGACCCTGACAGCCAAGCGCATGGCACGGAAGAACTGCCTGGTGAAGAACCTGGAGGCGGTGGAGACGCTGGGCTCCACGTCCACCATCTGCTCGGACAAGACGGGCACCCTCACCCAGAACCGCATGACCGTCGCCCACATGTGGTTCGACAACCAAATCCATGAGGCTGACACCACCGAAGATCAGTCTGGTGATTGGGTGCTCCAGAGGGGGTGGATAGGATTAGAGGAGGCTGAGGGCAGTGGCGTGGTGGGGTGAGTGGTTGAGATAAAGGCTCTAAAGGGAGCCACGCTCCTGGTTCCCCCTCATTTCCTCCCAGGGGCCACTTTTGACAAACGATCCCCTACGTGGACGGCCCTGTCTCGAATTGCTGGTCTCTGCAACCGCGCCGTCTTCAAGGCAGGACAGGAGAACATCTCCGTGTCTAAGGTAGGGGGTCAGGACACACACCAGGTATGTTTTGGGGGTGTCTCCAAAGCCTCTTGCTGGCCCCAGCTTTCCTTCTCACATGATGTGGCTGCCTTGGGGGTTTCAGTGCCGCCTTCACCTGATCCTCCACTCCCTTCCCTCCCATGCTGACACTGAATTCTTGTCTCTTCTGGCAGCGGGACACAGCTGGTGATGCCTCTGAGTCAGCTCTGCTCAAGTGCATTGAGCTCTCCTGTGGCTCAGTGAGGAAAATGAGAGACAGAAACCCCAAGGTGGCAGAGATTCCTTTCAACTCTACCAACAAGTACCAGGTCTGCTTGGGTTGCCAGGACAGAGGAAGAGAGAGGGATATAAATGGGTGAGGGTGGACAAAGCCAAGGGGAATCATCACTAGCAGGAGTGGGGGTGTCTGAGGGTCATGTTCCCTCCCCCTGCTAAGTCCCCCAGGACAGCTCATATGACTGCATGTCTGATTGCAACTAGCCCCAGCTCCCAAACCTTACTCCATCCCTTACTACAATCTGTCACTCTCTCAACTCTTCTTCCCATAGCTCCGCATCCTCTGGCCTAGCCTTCCAACTCTTCTACCCCAGTCAGTGAAACCATAATTCTGTAATTCCTTTATGGTGCCCCTTAGCCT
TTCTGGGCCTCGCTGCCCCCTTCGATAACCTTTGCTTTGGCCAGGGCCCCAGGGTCTGGGAGGGCCAAGAAGGCATTCTGGCCAGGTGAACACTTGGGGCCTACTTCAGGCTGCTTCTAACCTTTGTTACATCAAAAGACATGTTTCACCATGCACAGACTACCCAGTTTGCCCCATCCCTGTTCTGGGTTCTAGAGATAAACAAAGGTCAATAAGAACTCCCAGAGCTGCCATCACTTAATGGCAGGGGTCCAAGCACAACTGAAACCTGTGCCCTCTGTGGTAAAGCCAGTGAGCAGAGTCAGGGCTGCATCAGAGAAGGAGTAGGAGGGAAGAGACAGAAAGAGGCCTCACTAGACCAGTGGCCTCTGAAAATAGGGCAAAGGAGGCCTCATATCCCAATCCACACTTCCCCTGTCCATTACTCATTTCTCCTCAGTGTATTATGTTTCTCTGTGGTTTTTTTCCCTTCTTCGACAAGTTGGAATTCCACTGCTTGGAATCCATGAGGGATTGGTTCCAGGACCCCCTTCGTTACCAAAATCTAAGGATCCTCAAAGGCCCTGATATGAAATCGCATAATATTTGCATATAATCTGCGCACATCCTCCCATATACTTTGAATCAACTCTAGATTACTTATAATACCGAGTGCAATGTAATTTTTATACTGTTTTGTTTTTAAATTTGTATTATTTTTATTGTTGTATTGTTATTTTTATTTAGCTCCAAATATTTTCGATCTGAGGTTGGTTGAATCTATGGACATGGAATCTGTGAATATGGAGGGCCAACTGTACAAATAAAAATCACCACACATTACATTTCCTAAGTTTGTTTTTTGTTTTGCTTTTGAGACAAGATCTTGCTTTGTCACCCAGACTGGAGTGCAGTGGTGCAATCACAGCTCACTGCAGCCTTGACCTCCCAGGCTCAAGCGATCTCCCACCTCAGCCTCCAGAGTATTTGGGACTACAGGCGCGTGATACCACACCCAGCTAATATATATATATGTATATTAGAGATGGGGTCTCACTATGTTACCCAGGCTGGCCTCAAACTCCTGGGCTCAAGTGATCCTCCTGCCTCAGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCGAGCCTGGCCAAATTTCCTAAATTTTTAATGTACTGAGATTTTGAAATTTACATTTCCCACAATTGATTTATTCAGAAATGCCTAGTAATACATTCCTATTGCTTACTCTGCAATTGGCTTTGAAAAGAGGAAAGGAAATAAATGAGATATTTGTTGAGCACCCGCTATGTTCCAGGCACTGGCCTAAGTATATTAAAGCACAATCTCATCTAAATATTAAAACAGCACCGAGATAGGAATTCAAATAAGGATTCAAACCCAAATTTGGCTGGCTCCAATGTGCATGCTTTTTTCAATACACCACCCTTCCTTCCCAGAAGACCCCTGTAATGTCACACAAGGGTTAGCAATTGCCTGGCTTCCTCTATAGAGATTCATGCCTAATGTTGAGAAAGAAAATCTTAAGACTGGATGGAAAATCCATAATGAGTGCTTTACTTTGTGTTCATAATATACTTTTGGATGGTATCAAGTATGGGAATGATTTTACCAAAATGCCACAGGCAATTTTTATTTATTGAATCTTGTCTATTTGAACTTTGAGATTATTTGCAAGCTTCTCCCCAGGCTCGAGTACAAGAGAAAATAATTTGCTGTTGTATTGATTCAAGGATTGGCGATCTATCCAGGGAAAGGAAGGCCAAGTGGGGACAACCTACTGAATGTGGCCTCCAGATCTGCGGCTTTGGCTCACCTATCCTGTGATGATTTTCCTTGCTCAGGAAATAGGATGGGACTGCAGTCCCTGGGAGCCACAAGGCACCCAACCTGATGCCCCACCATGTTGCAGGCACTGCCAGGGGCATTGTGATTGCCACAGGAGACCGGACGGTGATGGGCCGCATAGCTACTCTCGCCTCAGGCCTGGAGGTTGGGCGGACACCCATAGCAATGGAGATTGAACACTTCATCCAGCTGATGACAGGGGTCGCTGTATTCCTGGGGGTCTCCTTCTTCGTGCTCTCCCTCATCCTGGGCTACAGCTGGCTGGAGGCAGTCATCTTCCTCATCGGCATCATAGTGGCCAACGTGCCTGAGGGGCTTCTGGCCACTGTCACTGTGAGTGGGTCAGGCTGAGGTGCCACCAGGGGAGGGTCTCACTACTCTTTCCTCAGAGTGATAGAGGCACAGTTGCTTGTAGCTTCTCACTACTTTTTCCCCCTAGAGTCACTTATTGGATGCGATACTCAGAGATCACTTAATACATGGCTTAGGGTATGAGTTGAGAAATCTCAGGTGGGGCTATTCTTAGGCACTCAGTTTCTCTTTTGGAGCTTGTCACGGCTGCCTTTTCTCACGATCTGCCAGCAGTCTGGGTCTCATTCCGTCCAAGTCTCCTGTAGAGGCTGTCTCAAAGGTCACCAGTCACTAACTAGCAAATCCAGGGACCTTTTCTCAGCTCTCCTCCCTAACTCTGCTGCTGAAACAGATACTGCTGTCCACCCTCCTACCATTCTCTCTTTTGTCGATTGCTGTGATGTGTCACTATCCTGGTTCGCCTCTCCTCTGTCCCTTCCTGCTCCCCCTACACTGATTCTCAGGCCTCAGCTGTCTGTTCTTCCTACACCCTGAGCAAGAGCCAATCTCCTCCCAGTTTGCAGTGTCCCTTCTGTGTTGATGACTCAGACATCCCTATGCTCAGCTCTGCTCTGGCCCTCTCTGGAGCTCTAGTCAAACGTCTTAAACCCCCTAATGGGCATTTCATCTTAACAGATACTCATGATCTCAACACATCTAAAATTGAACATTCATTATTTACAGCTAAGTCCCACCCATTCAAGTTAGTGGAGTAGAATCAGGGGAGGAGGAATGGAGCCACGGTCTAGGGTAAGGTTATGGCCATCTCCGGCTTCAGCCTTAACCTTTTTTATTCTCCTCTTTCTCTACCAGGTGTGCCTGACCCTGACAGCCAAGCGCATGGCACGGAAGAACTGCCTGGTGAAGAACCTGGAGGCGGTGGAGACGCTGGGCTCCACGTCCACCATCTGCTCGGACAAGACGGGCACCCTCACCCAGAACCGCATGACCGTCGCCCACATGTGGTTCGACAACCAAATCCATGAGGCTGACACCACCGAAGATCAGTCTGGTGATTGGGTGCTCCAGAGGGGGTGGATAGGATTAGAGGAGGCTGAGGGCAGTGGCGTGGTGGGGTGAGTGGTTGAGATAAAGGCTCTAAAGGGAGCCACGCTCCTGGTTCCCCCTCATTTCCTCCCAGGGGCCACTTTTGACAAACGATCCCCTACGTGGACGGCCCTGTCTCGAATTGCTGGTCTCTGCAACCGCGCCGTCTTCAAGGCAGGACAGGAGAACATCTCCGTGTCTAAGGTAGGGGGTCAGGACACACACCAGGTATGTTTTGGGGGTGTCTCCAAAGCCTCTTGCTGGCCCCAGCTTTCCTTCTCACATGATGTGGCTGCCTTGGGGGTTTCAGTGCCGCCTTCACCTGATCCTCCACTCCCTTCCCTCCCATGCTGACACTGAATTCTTGTCTCTTCTGGCAGCGGGACACAGCTGGTGATGCCTCTGAGTCAGCTCTGCTCAAGTGCATTGAGCTCTCCTGTGGCTCAGTGAGGAAAATGAGAGACAGAAACCCCAAGGTGGCAGAGATTCCTTTCAACTCTACCAACAAGTACCAGGTCTGCTTGGGTTGCCAGGACAGAGGAAGAGAGAGGGATATAAATGGGTGAGGGTGGACAAAGCCAAGGGGAATCATCACTAGCAGGAGTGGGGGTGTCTGAGGGTCATGTTCCCTCCCCCTGCTAAGTCCCCCAGGACAGCTCATATGACTGCATGTCTGATTGCAACTAGCCCCAGCTCCCAAACCTTACTCCATCCCTTACTACAATCTGTCACTCTCTCAACTCTTCTTCCCATAGCTCCGCATCCTCTGGCCTAGCCTTCCAACTCTTCTACCCCAGTCAGTGAAACCATAATTCTGTAATTCCTTTATGGTGCCCCTTAGCCT
Task1_train_1932
This variant affects gene ATP1A2 (ATPase Na+/K+ transporting subunit alpha 2) located on Chromosome 1. Evaluate its biological effect and specify any disease association.
Pathogenic; Alternating hemiplegia of childhood 1
TTCTGGGCCTCGCTGCCCCCTTCGATAACCTTTGCTTTGGCCAGGGCCCCAGGGTCTGGGAGGGCCAAGAAGGCATTCTGGCCAGGTGAACACTTGGGGCCTACTTCAGGCTGCTTCTAACCTTTGTTACATCAAAAGACATGTTTCACCATGCACAGACTACCCAGTTTGCCCCATCCCTGTTCTGGGTTCTAGAGATAAACAAAGGTCAATAAGAACTCCCAGAGCTGCCATCACTTAATGGCAGGGGTCCAAGCACAACTGAAACCTGTGCCCTCTGTGGTAAAGCCAGTGAGCAGAGTCAGGGCTGCATCAGAGAAGGAGTAGGAGGGAAGAGACAGAAAGAGGCCTCACTAGACCAGTGGCCTCTGAAAATAGGGCAAAGGAGGCCTCATATCCCAATCCACACTTCCCCTGTCCATTACTCATTTCTCCTCAGTGTATTATGTTTCTCTGTGGTTTTTTTCCCTTCTTCGACAAGTTGGAATTCCACTGCTTGGAATCCATGAGGGATTGGTTCCAGGACCCCCTTCGTTACCAAAATCTAAGGATCCTCAAAGGCCCTGATATGAAATCGCATAATATTTGCATATAATCTGCGCACATCCTCCCATATACTTTGAATCAACTCTAGATTACTTATAATACCGAGTGCAATGTAATTTTTATACTGTTTTGTTTTTAAATTTGTATTATTTTTATTGTTGTATTGTTATTTTTATTTAGCTCCAAATATTTTCGATCTGAGGTTGGTTGAATCTATGGACATGGAATCTGTGAATATGGAGGGCCAACTGTACAAATAAAAATCACCACACATTACATTTCCTAAGTTTGTTTTTTGTTTTGCTTTTGAGACAAGATCTTGCTTTGTCACCCAGACTGGAGTGCAGTGGTGCAATCACAGCTCACTGCAGCCTTGACCTCCCAGGCTCAAGCGATCTCCCACCTCAGCCTCCAGAGTATTTGGGACTACAGGCGCGTGATACCACACCCAGCTAATATATATATATGTATATTAGAGATGGGGTCTCACTATGTTACCCAGGCTGGCCTCAAACTCCTGGGCTCAAGTGATCCTCCTGCCTCAGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCGAGCCTGGCCAAATTTCCTAAATTTTTAATGTACTGAGATTTTGAAATTTACATTTCCCACAATTGATTTATTCAGAAATGCCTAGTAATACATTCCTATTGCTTACTCTGCAATTGGCTTTGAAAAGAGGAAAGGAAATAAATGAGATATTTGTTGAGCACCCGCTATGTTCCAGGCACTGGCCTAAGTATATTAAAGCACAATCTCATCTAAATATTAAAACAGCACCGAGATAGGAATTCAAATAAGGATTCAAACCCAAATTTGGCTGGCTCCAATGTGCATGCTTTTTTCAATACACCACCCTTCCTTCCCAGAAGACCCCTGTAATGTCACACAAGGGTTAGCAATTGCCTGGCTTCCTCTATAGAGATTCATGCCTAATGTTGAGAAAGAAAATCTTAAGACTGGATGGAAAATCCATAATGAGTGCTTTACTTTGTGTTCATAATATACTTTTGGATGGTATCAAGTATGGGAATGATTTTACCAAAATGCCACAGGCAATTTTTATTTATTGAATCTTGTCTATTTGAACTTTGAGATTATTTGCAAGCTTCTCCCCAGGCTCGAGTACAAGAGAAAATAATTTGCTGTTGTATTGATTCAAGGATTGGCGATCTATCCAGGGAAAGGAAGGCCAAGTGGGGACAACCTACTGAATGTGGCCTCCAGATCTGCGGCTTTGGCTCACCTATCCTGTGATGATTTTCCTTGCTCAGGAAATAGGATGGGACTGCAGTCCCTGGGAGCCACAAGGCACCCAACCTGATGCCCCACCATGTTGCAGGCACTGCCAGGGGCATTGTGATTGCCACAGGAGACCGGACGGTGATGGGCCGCATAGCTACTCTCGCCTCAGGCCTGGAGGTTGGGCGGACACCCATAGCAATGGAGATTGAACACTTCATCCAGCTGATCACAGGGGTCGCTGTATTCCTGGGGGTCTCCTTCTTCGTGCTCTCCCTCATCCTGGGCTACAGCTGGCTGGAGGCAGTCATCTTCCTCATCGGCATCATAGTGGCCAACGTGCCTGAGGGGCTTCTGGCCACTGTCACTGTGAGTGGGTCAGGCTGAGGTGCCACCAGGGGAGGGTCTCACTACTCTTTCCTCAGAGTGATAGAGGCACAGTTGCTTGTAGCTTCTCACTACTTTTTCCCCCTAGAGTCACTTATTGGATGCGATACTCAGAGATCACTTAATACATGGCTTAGGGTATGAGTTGAGAAATCTCAGGTGGGGCTATTCTTAGGCACTCAGTTTCTCTTTTGGAGCTTGTCACGGCTGCCTTTTCTCACGATCTGCCAGCAGTCTGGGTCTCATTCCGTCCAAGTCTCCTGTAGAGGCTGTCTCAAAGGTCACCAGTCACTAACTAGCAAATCCAGGGACCTTTTCTCAGCTCTCCTCCCTAACTCTGCTGCTGAAACAGATACTGCTGTCCACCCTCCTACCATTCTCTCTTTTGTCGATTGCTGTGATGTGTCACTATCCTGGTTCGCCTCTCCTCTGTCCCTTCCTGCTCCCCCTACACTGATTCTCAGGCCTCAGCTGTCTGTTCTTCCTACACCCTGAGCAAGAGCCAATCTCCTCCCAGTTTGCAGTGTCCCTTCTGTGTTGATGACTCAGACATCCCTATGCTCAGCTCTGCTCTGGCCCTCTCTGGAGCTCTAGTCAAACGTCTTAAACCCCCTAATGGGCATTTCATCTTAACAGATACTCATGATCTCAACACATCTAAAATTGAACATTCATTATTTACAGCTAAGTCCCACCCATTCAAGTTAGTGGAGTAGAATCAGGGGAGGAGGAATGGAGCCACGGTCTAGGGTAAGGTTATGGCCATCTCCGGCTTCAGCCTTAACCTTTTTTATTCTCCTCTTTCTCTACCAGGTGTGCCTGACCCTGACAGCCAAGCGCATGGCACGGAAGAACTGCCTGGTGAAGAACCTGGAGGCGGTGGAGACGCTGGGCTCCACGTCCACCATCTGCTCGGACAAGACGGGCACCCTCACCCAGAACCGCATGACCGTCGCCCACATGTGGTTCGACAACCAAATCCATGAGGCTGACACCACCGAAGATCAGTCTGGTGATTGGGTGCTCCAGAGGGGGTGGATAGGATTAGAGGAGGCTGAGGGCAGTGGCGTGGTGGGGTGAGTGGTTGAGATAAAGGCTCTAAAGGGAGCCACGCTCCTGGTTCCCCCTCATTTCCTCCCAGGGGCCACTTTTGACAAACGATCCCCTACGTGGACGGCCCTGTCTCGAATTGCTGGTCTCTGCAACCGCGCCGTCTTCAAGGCAGGACAGGAGAACATCTCCGTGTCTAAGGTAGGGGGTCAGGACACACACCAGGTATGTTTTGGGGGTGTCTCCAAAGCCTCTTGCTGGCCCCAGCTTTCCTTCTCACATGATGTGGCTGCCTTGGGGGTTTCAGTGCCGCCTTCACCTGATCCTCCACTCCCTTCCCTCCCATGCTGACACTGAATTCTTGTCTCTTCTGGCAGCGGGACACAGCTGGTGATGCCTCTGAGTCAGCTCTGCTCAAGTGCATTGAGCTCTCCTGTGGCTCAGTGAGGAAAATGAGAGACAGAAACCCCAAGGTGGCAGAGATTCCTTTCAACTCTACCAACAAGTACCAGGTCTGCTTGGGTTGCCAGGACAGAGGAAGAGAGAGGGATATAAATGGGTGAGGGTGGACAAAGCCAAGGGGAATCATCACTAGCAGGAGTGGGGGTGTCTGAGGGTCATGTTCCCTCCCCCTGCTAAGTCCCCCAGGACAGCTCATATGACTGCATGTCTGATTGCAACTAGCCCCAGCTCCCAAACCTTACTCCATCCCTTACTACAATCTGTCACTCTCTCAACTCTTCTTCCCATAGCTCCGCATCCTCTGGCCTAGCCTTCCAACTCTTCTACCCCAGTCAGTGAAACCATAATTCTGTAATTCCTTTATGGTGCCCCTTAGCCT
TTCTGGGCCTCGCTGCCCCCTTCGATAACCTTTGCTTTGGCCAGGGCCCCAGGGTCTGGGAGGGCCAAGAAGGCATTCTGGCCAGGTGAACACTTGGGGCCTACTTCAGGCTGCTTCTAACCTTTGTTACATCAAAAGACATGTTTCACCATGCACAGACTACCCAGTTTGCCCCATCCCTGTTCTGGGTTCTAGAGATAAACAAAGGTCAATAAGAACTCCCAGAGCTGCCATCACTTAATGGCAGGGGTCCAAGCACAACTGAAACCTGTGCCCTCTGTGGTAAAGCCAGTGAGCAGAGTCAGGGCTGCATCAGAGAAGGAGTAGGAGGGAAGAGACAGAAAGAGGCCTCACTAGACCAGTGGCCTCTGAAAATAGGGCAAAGGAGGCCTCATATCCCAATCCACACTTCCCCTGTCCATTACTCATTTCTCCTCAGTGTATTATGTTTCTCTGTGGTTTTTTTCCCTTCTTCGACAAGTTGGAATTCCACTGCTTGGAATCCATGAGGGATTGGTTCCAGGACCCCCTTCGTTACCAAAATCTAAGGATCCTCAAAGGCCCTGATATGAAATCGCATAATATTTGCATATAATCTGCGCACATCCTCCCATATACTTTGAATCAACTCTAGATTACTTATAATACCGAGTGCAATGTAATTTTTATACTGTTTTGTTTTTAAATTTGTATTATTTTTATTGTTGTATTGTTATTTTTATTTAGCTCCAAATATTTTCGATCTGAGGTTGGTTGAATCTATGGACATGGAATCTGTGAATATGGAGGGCCAACTGTACAAATAAAAATCACCACACATTACATTTCCTAAGTTTGTTTTTTGTTTTGCTTTTGAGACAAGATCTTGCTTTGTCACCCAGACTGGAGTGCAGTGGTGCAATCACAGCTCACTGCAGCCTTGACCTCCCAGGCTCAAGCGATCTCCCACCTCAGCCTCCAGAGTATTTGGGACTACAGGCGCGTGATACCACACCCAGCTAATATATATATATGTATATTAGAGATGGGGTCTCACTATGTTACCCAGGCTGGCCTCAAACTCCTGGGCTCAAGTGATCCTCCTGCCTCAGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCGAGCCTGGCCAAATTTCCTAAATTTTTAATGTACTGAGATTTTGAAATTTACATTTCCCACAATTGATTTATTCAGAAATGCCTAGTAATACATTCCTATTGCTTACTCTGCAATTGGCTTTGAAAAGAGGAAAGGAAATAAATGAGATATTTGTTGAGCACCCGCTATGTTCCAGGCACTGGCCTAAGTATATTAAAGCACAATCTCATCTAAATATTAAAACAGCACCGAGATAGGAATTCAAATAAGGATTCAAACCCAAATTTGGCTGGCTCCAATGTGCATGCTTTTTTCAATACACCACCCTTCCTTCCCAGAAGACCCCTGTAATGTCACACAAGGGTTAGCAATTGCCTGGCTTCCTCTATAGAGATTCATGCCTAATGTTGAGAAAGAAAATCTTAAGACTGGATGGAAAATCCATAATGAGTGCTTTACTTTGTGTTCATAATATACTTTTGGATGGTATCAAGTATGGGAATGATTTTACCAAAATGCCACAGGCAATTTTTATTTATTGAATCTTGTCTATTTGAACTTTGAGATTATTTGCAAGCTTCTCCCCAGGCTCGAGTACAAGAGAAAATAATTTGCTGTTGTATTGATTCAAGGATTGGCGATCTATCCAGGGAAAGGAAGGCCAAGTGGGGACAACCTACTGAATGTGGCCTCCAGATCTGCGGCTTTGGCTCACCTATCCTGTGATGATTTTCCTTGCTCAGGAAATAGGATGGGACTGCAGTCCCTGGGAGCCACAAGGCACCCAACCTGATGCCCCACCATGTTGCAGGCACTGCCAGGGGCATTGTGATTGCCACAGGAGACCGGACGGTGATGGGCCGCATAGCTACTCTCGCCTCAGGCCTGGAGGTTGGGCGGACACCCATAGCAATGGAGATTGAACACTTCATCCAGCTGATGACAGGGGTCGCTGTATTCCTGGGGGTCTCCTTCTTCGTGCTCTCCCTCATCCTGGGCTACAGCTGGCTGGAGGCAGTCATCTTCCTCATCGGCATCATAGTGGCCAACGTGCCTGAGGGGCTTCTGGCCACTGTCACTGTGAGTGGGTCAGGCTGAGGTGCCACCAGGGGAGGGTCTCACTACTCTTTCCTCAGAGTGATAGAGGCACAGTTGCTTGTAGCTTCTCACTACTTTTTCCCCCTAGAGTCACTTATTGGATGCGATACTCAGAGATCACTTAATACATGGCTTAGGGTATGAGTTGAGAAATCTCAGGTGGGGCTATTCTTAGGCACTCAGTTTCTCTTTTGGAGCTTGTCACGGCTGCCTTTTCTCACGATCTGCCAGCAGTCTGGGTCTCATTCCGTCCAAGTCTCCTGTAGAGGCTGTCTCAAAGGTCACCAGTCACTAACTAGCAAATCCAGGGACCTTTTCTCAGCTCTCCTCCCTAACTCTGCTGCTGAAACAGATACTGCTGTCCACCCTCCTACCATTCTCTCTTTTGTCGATTGCTGTGATGTGTCACTATCCTGGTTCGCCTCTCCTCTGTCCCTTCCTGCTCCCCCTACACTGATTCTCAGGCCTCAGCTGTCTGTTCTTCCTACACCCTGAGCAAGAGCCAATCTCCTCCCAGTTTGCAGTGTCCCTTCTGTGTTGATGACTCAGACATCCCTATGCTCAGCTCTGCTCTGGCCCTCTCTGGAGCTCTAGTCAAACGTCTTAAACCCCCTAATGGGCATTTCATCTTAACAGATACTCATGATCTCAACACATCTAAAATTGAACATTCATTATTTACAGCTAAGTCCCACCCATTCAAGTTAGTGGAGTAGAATCAGGGGAGGAGGAATGGAGCCACGGTCTAGGGTAAGGTTATGGCCATCTCCGGCTTCAGCCTTAACCTTTTTTATTCTCCTCTTTCTCTACCAGGTGTGCCTGACCCTGACAGCCAAGCGCATGGCACGGAAGAACTGCCTGGTGAAGAACCTGGAGGCGGTGGAGACGCTGGGCTCCACGTCCACCATCTGCTCGGACAAGACGGGCACCCTCACCCAGAACCGCATGACCGTCGCCCACATGTGGTTCGACAACCAAATCCATGAGGCTGACACCACCGAAGATCAGTCTGGTGATTGGGTGCTCCAGAGGGGGTGGATAGGATTAGAGGAGGCTGAGGGCAGTGGCGTGGTGGGGTGAGTGGTTGAGATAAAGGCTCTAAAGGGAGCCACGCTCCTGGTTCCCCCTCATTTCCTCCCAGGGGCCACTTTTGACAAACGATCCCCTACGTGGACGGCCCTGTCTCGAATTGCTGGTCTCTGCAACCGCGCCGTCTTCAAGGCAGGACAGGAGAACATCTCCGTGTCTAAGGTAGGGGGTCAGGACACACACCAGGTATGTTTTGGGGGTGTCTCCAAAGCCTCTTGCTGGCCCCAGCTTTCCTTCTCACATGATGTGGCTGCCTTGGGGGTTTCAGTGCCGCCTTCACCTGATCCTCCACTCCCTTCCCTCCCATGCTGACACTGAATTCTTGTCTCTTCTGGCAGCGGGACACAGCTGGTGATGCCTCTGAGTCAGCTCTGCTCAAGTGCATTGAGCTCTCCTGTGGCTCAGTGAGGAAAATGAGAGACAGAAACCCCAAGGTGGCAGAGATTCCTTTCAACTCTACCAACAAGTACCAGGTCTGCTTGGGTTGCCAGGACAGAGGAAGAGAGAGGGATATAAATGGGTGAGGGTGGACAAAGCCAAGGGGAATCATCACTAGCAGGAGTGGGGGTGTCTGAGGGTCATGTTCCCTCCCCCTGCTAAGTCCCCCAGGACAGCTCATATGACTGCATGTCTGATTGCAACTAGCCCCAGCTCCCAAACCTTACTCCATCCCTTACTACAATCTGTCACTCTCTCAACTCTTCTTCCCATAGCTCCGCATCCTCTGGCCTAGCCTTCCAACTCTTCTACCCCAGTCAGTGAAACCATAATTCTGTAATTCCTTTATGGTGCCCCTTAGCCT
Task1_train_1933
Here is a variant affecting ATP1A2 (ATPase Na+/K+ transporting subunit alpha 2) on Chromosome 1. Please identify whether it is a benign mutation or associated with a disorder.
Pathogenic; Migraine, familial hemiplegic, 2
CGATAACCTTTGCTTTGGCCAGGGCCCCAGGGTCTGGGAGGGCCAAGAAGGCATTCTGGCCAGGTGAACACTTGGGGCCTACTTCAGGCTGCTTCTAACCTTTGTTACATCAAAAGACATGTTTCACCATGCACAGACTACCCAGTTTGCCCCATCCCTGTTCTGGGTTCTAGAGATAAACAAAGGTCAATAAGAACTCCCAGAGCTGCCATCACTTAATGGCAGGGGTCCAAGCACAACTGAAACCTGTGCCCTCTGTGGTAAAGCCAGTGAGCAGAGTCAGGGCTGCATCAGAGAAGGAGTAGGAGGGAAGAGACAGAAAGAGGCCTCACTAGACCAGTGGCCTCTGAAAATAGGGCAAAGGAGGCCTCATATCCCAATCCACACTTCCCCTGTCCATTACTCATTTCTCCTCAGTGTATTATGTTTCTCTGTGGTTTTTTTCCCTTCTTCGACAAGTTGGAATTCCACTGCTTGGAATCCATGAGGGATTGGTTCCAGGACCCCCTTCGTTACCAAAATCTAAGGATCCTCAAAGGCCCTGATATGAAATCGCATAATATTTGCATATAATCTGCGCACATCCTCCCATATACTTTGAATCAACTCTAGATTACTTATAATACCGAGTGCAATGTAATTTTTATACTGTTTTGTTTTTAAATTTGTATTATTTTTATTGTTGTATTGTTATTTTTATTTAGCTCCAAATATTTTCGATCTGAGGTTGGTTGAATCTATGGACATGGAATCTGTGAATATGGAGGGCCAACTGTACAAATAAAAATCACCACACATTACATTTCCTAAGTTTGTTTTTTGTTTTGCTTTTGAGACAAGATCTTGCTTTGTCACCCAGACTGGAGTGCAGTGGTGCAATCACAGCTCACTGCAGCCTTGACCTCCCAGGCTCAAGCGATCTCCCACCTCAGCCTCCAGAGTATTTGGGACTACAGGCGCGTGATACCACACCCAGCTAATATATATATATGTATATTAGAGATGGGGTCTCACTATGTTACCCAGGCTGGCCTCAAACTCCTGGGCTCAAGTGATCCTCCTGCCTCAGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCGAGCCTGGCCAAATTTCCTAAATTTTTAATGTACTGAGATTTTGAAATTTACATTTCCCACAATTGATTTATTCAGAAATGCCTAGTAATACATTCCTATTGCTTACTCTGCAATTGGCTTTGAAAAGAGGAAAGGAAATAAATGAGATATTTGTTGAGCACCCGCTATGTTCCAGGCACTGGCCTAAGTATATTAAAGCACAATCTCATCTAAATATTAAAACAGCACCGAGATAGGAATTCAAATAAGGATTCAAACCCAAATTTGGCTGGCTCCAATGTGCATGCTTTTTTCAATACACCACCCTTCCTTCCCAGAAGACCCCTGTAATGTCACACAAGGGTTAGCAATTGCCTGGCTTCCTCTATAGAGATTCATGCCTAATGTTGAGAAAGAAAATCTTAAGACTGGATGGAAAATCCATAATGAGTGCTTTACTTTGTGTTCATAATATACTTTTGGATGGTATCAAGTATGGGAATGATTTTACCAAAATGCCACAGGCAATTTTTATTTATTGAATCTTGTCTATTTGAACTTTGAGATTATTTGCAAGCTTCTCCCCAGGCTCGAGTACAAGAGAAAATAATTTGCTGTTGTATTGATTCAAGGATTGGCGATCTATCCAGGGAAAGGAAGGCCAAGTGGGGACAACCTACTGAATGTGGCCTCCAGATCTGCGGCTTTGGCTCACCTATCCTGTGATGATTTTCCTTGCTCAGGAAATAGGATGGGACTGCAGTCCCTGGGAGCCACAAGGCACCCAACCTGATGCCCCACCATGTTGCAGGCACTGCCAGGGGCATTGTGATTGCCACAGGAGACCGGACGGTGATGGGCCGCATAGCTACTCTCGCCTCAGGCCTGGAGGTTGGGCGGACACCCATAGCAATGGAGATTGAACACTTCATCCAGCTGATCACAGGGGTCGCTGTATTCCTGGGGGTCTCCTTCTTCGTGCTCTCCCTCATCCTGGGCTACAGCTGGCTGGAGGCAGTCATCTTCCTCATCGGCATCATAGTGGCCAACGTGCCTGAGGGGCTTCTGGCCACTGTCACTGTGAGTGGGTCAGGCTGAGGTGCCACCAGGGGAGGGTCTCACTACTCTTTCCTCAGAGTGATAGAGGCACAGTTGCTTGTAGCTTCTCACTACTTTTTCCCCCTAGAGTCACTTATTGGATGCGATACTCAGAGATCACTTAATACATGGCTTAGGGTATGAGTTGAGAAATCTCAGGTGGGGCTATTCTTAGGCACTCAGTTTCTCTTTTGGAGCTTGTCACGGCTGCCTTTTCTCACGATCTGCCAGCAGTCTGGGTCTCATTCCGTCCAAGTCTCCTGTAGAGGCTGTCTCAAAGGTCACCAGTCACTAACTAGCAAATCCAGGGACCTTTTCTCAGCTCTCCTCCCTAACTCTGCTGCTGAAACAGATACTGCTGTCCACCCTCCTACCATTCTCTCTTTTGTCGATTGCTGTGATGTGTCACTATCCTGGTTCGCCTCTCCTCTGTCCCTTCCTGCTCCCCCTACACTGATTCTCAGGCCTCAGCTGTCTGTTCTTCCTACACCCTGAGCAAGAGCCAATCTCCTCCCAGTTTGCAGTGTCCCTTCTGTGTTGATGACTCAGACATCCCTATGCTCAGCTCTGCTCTGGCCCTCTCTGGAGCTCTAGTCAAACGTCTTAAACCCCCTAATGGGCATTTCATCTTAACAGATACTCATGATCTCAACACATCTAAAATTGAACATTCATTATTTACAGCTAAGTCCCACCCATTCAAGTTAGTGGAGTAGAATCAGGGGAGGAGGAATGGAGCCACGGTCTAGGGTAAGGTTATGGCCATCTCCGGCTTCAGCCTTAACCTTTTTTATTCTCCTCTTTCTCTACCAGGTGTGCCTGACCCTGACAGCCAAGCGCATGGCACGGAAGAACTGCCTGGTGAAGAACCTGGAGGCGGTGGAGACGCTGGGCTCCACGTCCACCATCTGCTCGGACAAGACGGGCACCCTCACCCAGAACCGCATGACCGTCGCCCACATGTGGTTCGACAACCAAATCCATGAGGCTGACACCACCGAAGATCAGTCTGGTGATTGGGTGCTCCAGAGGGGGTGGATAGGATTAGAGGAGGCTGAGGGCAGTGGCGTGGTGGGGTGAGTGGTTGAGATAAAGGCTCTAAAGGGAGCCACGCTCCTGGTTCCCCCTCATTTCCTCCCAGGGGCCACTTTTGACAAACGATCCCCTACGTGGACGGCCCTGTCTCGAATTGCTGGTCTCTGCAACCGCGCCGTCTTCAAGGCAGGACAGGAGAACATCTCCGTGTCTAAGGTAGGGGGTCAGGACACACACCAGGTATGTTTTGGGGGTGTCTCCAAAGCCTCTTGCTGGCCCCAGCTTTCCTTCTCACATGATGTGGCTGCCTTGGGGGTTTCAGTGCCGCCTTCACCTGATCCTCCACTCCCTTCCCTCCCATGCTGACACTGAATTCTTGTCTCTTCTGGCAGCGGGACACAGCTGGTGATGCCTCTGAGTCAGCTCTGCTCAAGTGCATTGAGCTCTCCTGTGGCTCAGTGAGGAAAATGAGAGACAGAAACCCCAAGGTGGCAGAGATTCCTTTCAACTCTACCAACAAGTACCAGGTCTGCTTGGGTTGCCAGGACAGAGGAAGAGAGAGGGATATAAATGGGTGAGGGTGGACAAAGCCAAGGGGAATCATCACTAGCAGGAGTGGGGGTGTCTGAGGGTCATGTTCCCTCCCCCTGCTAAGTCCCCCAGGACAGCTCATATGACTGCATGTCTGATTGCAACTAGCCCCAGCTCCCAAACCTTACTCCATCCCTTACTACAATCTGTCACTCTCTCAACTCTTCTTCCCATAGCTCCGCATCCTCTGGCCTAGCCTTCCAACTCTTCTACCCCAGTCAGTGAAACCATAATTCTGTAATTCCTTTATGGTGCCCCTTAGCCTTTAGGCACCTGTTAAATGCCAA
CGATAACCTTTGCTTTGGCCAGGGCCCCAGGGTCTGGGAGGGCCAAGAAGGCATTCTGGCCAGGTGAACACTTGGGGCCTACTTCAGGCTGCTTCTAACCTTTGTTACATCAAAAGACATGTTTCACCATGCACAGACTACCCAGTTTGCCCCATCCCTGTTCTGGGTTCTAGAGATAAACAAAGGTCAATAAGAACTCCCAGAGCTGCCATCACTTAATGGCAGGGGTCCAAGCACAACTGAAACCTGTGCCCTCTGTGGTAAAGCCAGTGAGCAGAGTCAGGGCTGCATCAGAGAAGGAGTAGGAGGGAAGAGACAGAAAGAGGCCTCACTAGACCAGTGGCCTCTGAAAATAGGGCAAAGGAGGCCTCATATCCCAATCCACACTTCCCCTGTCCATTACTCATTTCTCCTCAGTGTATTATGTTTCTCTGTGGTTTTTTTCCCTTCTTCGACAAGTTGGAATTCCACTGCTTGGAATCCATGAGGGATTGGTTCCAGGACCCCCTTCGTTACCAAAATCTAAGGATCCTCAAAGGCCCTGATATGAAATCGCATAATATTTGCATATAATCTGCGCACATCCTCCCATATACTTTGAATCAACTCTAGATTACTTATAATACCGAGTGCAATGTAATTTTTATACTGTTTTGTTTTTAAATTTGTATTATTTTTATTGTTGTATTGTTATTTTTATTTAGCTCCAAATATTTTCGATCTGAGGTTGGTTGAATCTATGGACATGGAATCTGTGAATATGGAGGGCCAACTGTACAAATAAAAATCACCACACATTACATTTCCTAAGTTTGTTTTTTGTTTTGCTTTTGAGACAAGATCTTGCTTTGTCACCCAGACTGGAGTGCAGTGGTGCAATCACAGCTCACTGCAGCCTTGACCTCCCAGGCTCAAGCGATCTCCCACCTCAGCCTCCAGAGTATTTGGGACTACAGGCGCGTGATACCACACCCAGCTAATATATATATATGTATATTAGAGATGGGGTCTCACTATGTTACCCAGGCTGGCCTCAAACTCCTGGGCTCAAGTGATCCTCCTGCCTCAGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCGAGCCTGGCCAAATTTCCTAAATTTTTAATGTACTGAGATTTTGAAATTTACATTTCCCACAATTGATTTATTCAGAAATGCCTAGTAATACATTCCTATTGCTTACTCTGCAATTGGCTTTGAAAAGAGGAAAGGAAATAAATGAGATATTTGTTGAGCACCCGCTATGTTCCAGGCACTGGCCTAAGTATATTAAAGCACAATCTCATCTAAATATTAAAACAGCACCGAGATAGGAATTCAAATAAGGATTCAAACCCAAATTTGGCTGGCTCCAATGTGCATGCTTTTTTCAATACACCACCCTTCCTTCCCAGAAGACCCCTGTAATGTCACACAAGGGTTAGCAATTGCCTGGCTTCCTCTATAGAGATTCATGCCTAATGTTGAGAAAGAAAATCTTAAGACTGGATGGAAAATCCATAATGAGTGCTTTACTTTGTGTTCATAATATACTTTTGGATGGTATCAAGTATGGGAATGATTTTACCAAAATGCCACAGGCAATTTTTATTTATTGAATCTTGTCTATTTGAACTTTGAGATTATTTGCAAGCTTCTCCCCAGGCTCGAGTACAAGAGAAAATAATTTGCTGTTGTATTGATTCAAGGATTGGCGATCTATCCAGGGAAAGGAAGGCCAAGTGGGGACAACCTACTGAATGTGGCCTCCAGATCTGCGGCTTTGGCTCACCTATCCTGTGATGATTTTCCTTGCTCAGGAAATAGGATGGGACTGCAGTCCCTGGGAGCCACAAGGCACCCAACCTGATGCCCCACCATGTTGCAGGCACTGCCAGGGGCATTGTGATTGCCACAGGAGACCGGACGGTGATGGGCCGCATAGCTACTCTCGCCTCAGGCCTGGAGGTTGGGCGGACACCCATAGCAATGGAGATTGAACACTTCATCCAGCTGATCACAGGGGTCGCTGTATTCCTGAGGGTCTCCTTCTTCGTGCTCTCCCTCATCCTGGGCTACAGCTGGCTGGAGGCAGTCATCTTCCTCATCGGCATCATAGTGGCCAACGTGCCTGAGGGGCTTCTGGCCACTGTCACTGTGAGTGGGTCAGGCTGAGGTGCCACCAGGGGAGGGTCTCACTACTCTTTCCTCAGAGTGATAGAGGCACAGTTGCTTGTAGCTTCTCACTACTTTTTCCCCCTAGAGTCACTTATTGGATGCGATACTCAGAGATCACTTAATACATGGCTTAGGGTATGAGTTGAGAAATCTCAGGTGGGGCTATTCTTAGGCACTCAGTTTCTCTTTTGGAGCTTGTCACGGCTGCCTTTTCTCACGATCTGCCAGCAGTCTGGGTCTCATTCCGTCCAAGTCTCCTGTAGAGGCTGTCTCAAAGGTCACCAGTCACTAACTAGCAAATCCAGGGACCTTTTCTCAGCTCTCCTCCCTAACTCTGCTGCTGAAACAGATACTGCTGTCCACCCTCCTACCATTCTCTCTTTTGTCGATTGCTGTGATGTGTCACTATCCTGGTTCGCCTCTCCTCTGTCCCTTCCTGCTCCCCCTACACTGATTCTCAGGCCTCAGCTGTCTGTTCTTCCTACACCCTGAGCAAGAGCCAATCTCCTCCCAGTTTGCAGTGTCCCTTCTGTGTTGATGACTCAGACATCCCTATGCTCAGCTCTGCTCTGGCCCTCTCTGGAGCTCTAGTCAAACGTCTTAAACCCCCTAATGGGCATTTCATCTTAACAGATACTCATGATCTCAACACATCTAAAATTGAACATTCATTATTTACAGCTAAGTCCCACCCATTCAAGTTAGTGGAGTAGAATCAGGGGAGGAGGAATGGAGCCACGGTCTAGGGTAAGGTTATGGCCATCTCCGGCTTCAGCCTTAACCTTTTTTATTCTCCTCTTTCTCTACCAGGTGTGCCTGACCCTGACAGCCAAGCGCATGGCACGGAAGAACTGCCTGGTGAAGAACCTGGAGGCGGTGGAGACGCTGGGCTCCACGTCCACCATCTGCTCGGACAAGACGGGCACCCTCACCCAGAACCGCATGACCGTCGCCCACATGTGGTTCGACAACCAAATCCATGAGGCTGACACCACCGAAGATCAGTCTGGTGATTGGGTGCTCCAGAGGGGGTGGATAGGATTAGAGGAGGCTGAGGGCAGTGGCGTGGTGGGGTGAGTGGTTGAGATAAAGGCTCTAAAGGGAGCCACGCTCCTGGTTCCCCCTCATTTCCTCCCAGGGGCCACTTTTGACAAACGATCCCCTACGTGGACGGCCCTGTCTCGAATTGCTGGTCTCTGCAACCGCGCCGTCTTCAAGGCAGGACAGGAGAACATCTCCGTGTCTAAGGTAGGGGGTCAGGACACACACCAGGTATGTTTTGGGGGTGTCTCCAAAGCCTCTTGCTGGCCCCAGCTTTCCTTCTCACATGATGTGGCTGCCTTGGGGGTTTCAGTGCCGCCTTCACCTGATCCTCCACTCCCTTCCCTCCCATGCTGACACTGAATTCTTGTCTCTTCTGGCAGCGGGACACAGCTGGTGATGCCTCTGAGTCAGCTCTGCTCAAGTGCATTGAGCTCTCCTGTGGCTCAGTGAGGAAAATGAGAGACAGAAACCCCAAGGTGGCAGAGATTCCTTTCAACTCTACCAACAAGTACCAGGTCTGCTTGGGTTGCCAGGACAGAGGAAGAGAGAGGGATATAAATGGGTGAGGGTGGACAAAGCCAAGGGGAATCATCACTAGCAGGAGTGGGGGTGTCTGAGGGTCATGTTCCCTCCCCCTGCTAAGTCCCCCAGGACAGCTCATATGACTGCATGTCTGATTGCAACTAGCCCCAGCTCCCAAACCTTACTCCATCCCTTACTACAATCTGTCACTCTCTCAACTCTTCTTCCCATAGCTCCGCATCCTCTGGCCTAGCCTTCCAACTCTTCTACCCCAGTCAGTGAAACCATAATTCTGTAATTCCTTTATGGTGCCCCTTAGCCTTTAGGCACCTGTTAAATGCCAA
Task1_train_1934
A sequence alteration has been identified in ATP1A2 (ATPase Na+/K+ transporting subunit alpha 2) on Chromosome 1. Is it disease-inducing or harmless?
Pathogenic; Familial hemiplegic migraine
CGATAACCTTTGCTTTGGCCAGGGCCCCAGGGTCTGGGAGGGCCAAGAAGGCATTCTGGCCAGGTGAACACTTGGGGCCTACTTCAGGCTGCTTCTAACCTTTGTTACATCAAAAGACATGTTTCACCATGCACAGACTACCCAGTTTGCCCCATCCCTGTTCTGGGTTCTAGAGATAAACAAAGGTCAATAAGAACTCCCAGAGCTGCCATCACTTAATGGCAGGGGTCCAAGCACAACTGAAACCTGTGCCCTCTGTGGTAAAGCCAGTGAGCAGAGTCAGGGCTGCATCAGAGAAGGAGTAGGAGGGAAGAGACAGAAAGAGGCCTCACTAGACCAGTGGCCTCTGAAAATAGGGCAAAGGAGGCCTCATATCCCAATCCACACTTCCCCTGTCCATTACTCATTTCTCCTCAGTGTATTATGTTTCTCTGTGGTTTTTTTCCCTTCTTCGACAAGTTGGAATTCCACTGCTTGGAATCCATGAGGGATTGGTTCCAGGACCCCCTTCGTTACCAAAATCTAAGGATCCTCAAAGGCCCTGATATGAAATCGCATAATATTTGCATATAATCTGCGCACATCCTCCCATATACTTTGAATCAACTCTAGATTACTTATAATACCGAGTGCAATGTAATTTTTATACTGTTTTGTTTTTAAATTTGTATTATTTTTATTGTTGTATTGTTATTTTTATTTAGCTCCAAATATTTTCGATCTGAGGTTGGTTGAATCTATGGACATGGAATCTGTGAATATGGAGGGCCAACTGTACAAATAAAAATCACCACACATTACATTTCCTAAGTTTGTTTTTTGTTTTGCTTTTGAGACAAGATCTTGCTTTGTCACCCAGACTGGAGTGCAGTGGTGCAATCACAGCTCACTGCAGCCTTGACCTCCCAGGCTCAAGCGATCTCCCACCTCAGCCTCCAGAGTATTTGGGACTACAGGCGCGTGATACCACACCCAGCTAATATATATATATGTATATTAGAGATGGGGTCTCACTATGTTACCCAGGCTGGCCTCAAACTCCTGGGCTCAAGTGATCCTCCTGCCTCAGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCGAGCCTGGCCAAATTTCCTAAATTTTTAATGTACTGAGATTTTGAAATTTACATTTCCCACAATTGATTTATTCAGAAATGCCTAGTAATACATTCCTATTGCTTACTCTGCAATTGGCTTTGAAAAGAGGAAAGGAAATAAATGAGATATTTGTTGAGCACCCGCTATGTTCCAGGCACTGGCCTAAGTATATTAAAGCACAATCTCATCTAAATATTAAAACAGCACCGAGATAGGAATTCAAATAAGGATTCAAACCCAAATTTGGCTGGCTCCAATGTGCATGCTTTTTTCAATACACCACCCTTCCTTCCCAGAAGACCCCTGTAATGTCACACAAGGGTTAGCAATTGCCTGGCTTCCTCTATAGAGATTCATGCCTAATGTTGAGAAAGAAAATCTTAAGACTGGATGGAAAATCCATAATGAGTGCTTTACTTTGTGTTCATAATATACTTTTGGATGGTATCAAGTATGGGAATGATTTTACCAAAATGCCACAGGCAATTTTTATTTATTGAATCTTGTCTATTTGAACTTTGAGATTATTTGCAAGCTTCTCCCCAGGCTCGAGTACAAGAGAAAATAATTTGCTGTTGTATTGATTCAAGGATTGGCGATCTATCCAGGGAAAGGAAGGCCAAGTGGGGACAACCTACTGAATGTGGCCTCCAGATCTGCGGCTTTGGCTCACCTATCCTGTGATGATTTTCCTTGCTCAGGAAATAGGATGGGACTGCAGTCCCTGGGAGCCACAAGGCACCCAACCTGATGCCCCACCATGTTGCAGGCACTGCCAGGGGCATTGTGATTGCCACAGGAGACCGGACGGTGATGGGCCGCATAGCTACTCTCGCCTCAGGCCTGGAGGTTGGGCGGACACCCATAGCAATGGAGATTGAACACTTCATCCAGCTGATCACAGGGGTCGCTGTATTCCTGGGGGTCTCCTTCTTCGTGCTCTCCCTCATCCTGGGCTACAGCTGGCTGGAGGCAGTCATCTTCCTCATCGGCATCATAGTGGCCAACGTGCCTGAGGGGCTTCTGGCCACTGTCACTGTGAGTGGGTCAGGCTGAGGTGCCACCAGGGGAGGGTCTCACTACTCTTTCCTCAGAGTGATAGAGGCACAGTTGCTTGTAGCTTCTCACTACTTTTTCCCCCTAGAGTCACTTATTGGATGCGATACTCAGAGATCACTTAATACATGGCTTAGGGTATGAGTTGAGAAATCTCAGGTGGGGCTATTCTTAGGCACTCAGTTTCTCTTTTGGAGCTTGTCACGGCTGCCTTTTCTCACGATCTGCCAGCAGTCTGGGTCTCATTCCGTCCAAGTCTCCTGTAGAGGCTGTCTCAAAGGTCACCAGTCACTAACTAGCAAATCCAGGGACCTTTTCTCAGCTCTCCTCCCTAACTCTGCTGCTGAAACAGATACTGCTGTCCACCCTCCTACCATTCTCTCTTTTGTCGATTGCTGTGATGTGTCACTATCCTGGTTCGCCTCTCCTCTGTCCCTTCCTGCTCCCCCTACACTGATTCTCAGGCCTCAGCTGTCTGTTCTTCCTACACCCTGAGCAAGAGCCAATCTCCTCCCAGTTTGCAGTGTCCCTTCTGTGTTGATGACTCAGACATCCCTATGCTCAGCTCTGCTCTGGCCCTCTCTGGAGCTCTAGTCAAACGTCTTAAACCCCCTAATGGGCATTTCATCTTAACAGATACTCATGATCTCAACACATCTAAAATTGAACATTCATTATTTACAGCTAAGTCCCACCCATTCAAGTTAGTGGAGTAGAATCAGGGGAGGAGGAATGGAGCCACGGTCTAGGGTAAGGTTATGGCCATCTCCGGCTTCAGCCTTAACCTTTTTTATTCTCCTCTTTCTCTACCAGGTGTGCCTGACCCTGACAGCCAAGCGCATGGCACGGAAGAACTGCCTGGTGAAGAACCTGGAGGCGGTGGAGACGCTGGGCTCCACGTCCACCATCTGCTCGGACAAGACGGGCACCCTCACCCAGAACCGCATGACCGTCGCCCACATGTGGTTCGACAACCAAATCCATGAGGCTGACACCACCGAAGATCAGTCTGGTGATTGGGTGCTCCAGAGGGGGTGGATAGGATTAGAGGAGGCTGAGGGCAGTGGCGTGGTGGGGTGAGTGGTTGAGATAAAGGCTCTAAAGGGAGCCACGCTCCTGGTTCCCCCTCATTTCCTCCCAGGGGCCACTTTTGACAAACGATCCCCTACGTGGACGGCCCTGTCTCGAATTGCTGGTCTCTGCAACCGCGCCGTCTTCAAGGCAGGACAGGAGAACATCTCCGTGTCTAAGGTAGGGGGTCAGGACACACACCAGGTATGTTTTGGGGGTGTCTCCAAAGCCTCTTGCTGGCCCCAGCTTTCCTTCTCACATGATGTGGCTGCCTTGGGGGTTTCAGTGCCGCCTTCACCTGATCCTCCACTCCCTTCCCTCCCATGCTGACACTGAATTCTTGTCTCTTCTGGCAGCGGGACACAGCTGGTGATGCCTCTGAGTCAGCTCTGCTCAAGTGCATTGAGCTCTCCTGTGGCTCAGTGAGGAAAATGAGAGACAGAAACCCCAAGGTGGCAGAGATTCCTTTCAACTCTACCAACAAGTACCAGGTCTGCTTGGGTTGCCAGGACAGAGGAAGAGAGAGGGATATAAATGGGTGAGGGTGGACAAAGCCAAGGGGAATCATCACTAGCAGGAGTGGGGGTGTCTGAGGGTCATGTTCCCTCCCCCTGCTAAGTCCCCCAGGACAGCTCATATGACTGCATGTCTGATTGCAACTAGCCCCAGCTCCCAAACCTTACTCCATCCCTTACTACAATCTGTCACTCTCTCAACTCTTCTTCCCATAGCTCCGCATCCTCTGGCCTAGCCTTCCAACTCTTCTACCCCAGTCAGTGAAACCATAATTCTGTAATTCCTTTATGGTGCCCCTTAGCCTTTAGGCACCTGTTAAATGCCAA
CGATAACCTTTGCTTTGGCCAGGGCCCCAGGGTCTGGGAGGGCCAAGAAGGCATTCTGGCCAGGTGAACACTTGGGGCCTACTTCAGGCTGCTTCTAACCTTTGTTACATCAAAAGACATGTTTCACCATGCACAGACTACCCAGTTTGCCCCATCCCTGTTCTGGGTTCTAGAGATAAACAAAGGTCAATAAGAACTCCCAGAGCTGCCATCACTTAATGGCAGGGGTCCAAGCACAACTGAAACCTGTGCCCTCTGTGGTAAAGCCAGTGAGCAGAGTCAGGGCTGCATCAGAGAAGGAGTAGGAGGGAAGAGACAGAAAGAGGCCTCACTAGACCAGTGGCCTCTGAAAATAGGGCAAAGGAGGCCTCATATCCCAATCCACACTTCCCCTGTCCATTACTCATTTCTCCTCAGTGTATTATGTTTCTCTGTGGTTTTTTTCCCTTCTTCGACAAGTTGGAATTCCACTGCTTGGAATCCATGAGGGATTGGTTCCAGGACCCCCTTCGTTACCAAAATCTAAGGATCCTCAAAGGCCCTGATATGAAATCGCATAATATTTGCATATAATCTGCGCACATCCTCCCATATACTTTGAATCAACTCTAGATTACTTATAATACCGAGTGCAATGTAATTTTTATACTGTTTTGTTTTTAAATTTGTATTATTTTTATTGTTGTATTGTTATTTTTATTTAGCTCCAAATATTTTCGATCTGAGGTTGGTTGAATCTATGGACATGGAATCTGTGAATATGGAGGGCCAACTGTACAAATAAAAATCACCACACATTACATTTCCTAAGTTTGTTTTTTGTTTTGCTTTTGAGACAAGATCTTGCTTTGTCACCCAGACTGGAGTGCAGTGGTGCAATCACAGCTCACTGCAGCCTTGACCTCCCAGGCTCAAGCGATCTCCCACCTCAGCCTCCAGAGTATTTGGGACTACAGGCGCGTGATACCACACCCAGCTAATATATATATATGTATATTAGAGATGGGGTCTCACTATGTTACCCAGGCTGGCCTCAAACTCCTGGGCTCAAGTGATCCTCCTGCCTCAGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCGAGCCTGGCCAAATTTCCTAAATTTTTAATGTACTGAGATTTTGAAATTTACATTTCCCACAATTGATTTATTCAGAAATGCCTAGTAATACATTCCTATTGCTTACTCTGCAATTGGCTTTGAAAAGAGGAAAGGAAATAAATGAGATATTTGTTGAGCACCCGCTATGTTCCAGGCACTGGCCTAAGTATATTAAAGCACAATCTCATCTAAATATTAAAACAGCACCGAGATAGGAATTCAAATAAGGATTCAAACCCAAATTTGGCTGGCTCCAATGTGCATGCTTTTTTCAATACACCACCCTTCCTTCCCAGAAGACCCCTGTAATGTCACACAAGGGTTAGCAATTGCCTGGCTTCCTCTATAGAGATTCATGCCTAATGTTGAGAAAGAAAATCTTAAGACTGGATGGAAAATCCATAATGAGTGCTTTACTTTGTGTTCATAATATACTTTTGGATGGTATCAAGTATGGGAATGATTTTACCAAAATGCCACAGGCAATTTTTATTTATTGAATCTTGTCTATTTGAACTTTGAGATTATTTGCAAGCTTCTCCCCAGGCTCGAGTACAAGAGAAAATAATTTGCTGTTGTATTGATTCAAGGATTGGCGATCTATCCAGGGAAAGGAAGGCCAAGTGGGGACAACCTACTGAATGTGGCCTCCAGATCTGCGGCTTTGGCTCACCTATCCTGTGATGATTTTCCTTGCTCAGGAAATAGGATGGGACTGCAGTCCCTGGGAGCCACAAGGCACCCAACCTGATGCCCCACCATGTTGCAGGCACTGCCAGGGGCATTGTGATTGCCACAGGAGACCGGACGGTGATGGGCCGCATAGCTACTCTCGCCTCAGGCCTGGAGGTTGGGCGGACACCCATAGCAATGGAGATTGAACACTTCATCCAGCTGATCACAGGGGTCGCTGTATTCCTGAGGGTCTCCTTCTTCGTGCTCTCCCTCATCCTGGGCTACAGCTGGCTGGAGGCAGTCATCTTCCTCATCGGCATCATAGTGGCCAACGTGCCTGAGGGGCTTCTGGCCACTGTCACTGTGAGTGGGTCAGGCTGAGGTGCCACCAGGGGAGGGTCTCACTACTCTTTCCTCAGAGTGATAGAGGCACAGTTGCTTGTAGCTTCTCACTACTTTTTCCCCCTAGAGTCACTTATTGGATGCGATACTCAGAGATCACTTAATACATGGCTTAGGGTATGAGTTGAGAAATCTCAGGTGGGGCTATTCTTAGGCACTCAGTTTCTCTTTTGGAGCTTGTCACGGCTGCCTTTTCTCACGATCTGCCAGCAGTCTGGGTCTCATTCCGTCCAAGTCTCCTGTAGAGGCTGTCTCAAAGGTCACCAGTCACTAACTAGCAAATCCAGGGACCTTTTCTCAGCTCTCCTCCCTAACTCTGCTGCTGAAACAGATACTGCTGTCCACCCTCCTACCATTCTCTCTTTTGTCGATTGCTGTGATGTGTCACTATCCTGGTTCGCCTCTCCTCTGTCCCTTCCTGCTCCCCCTACACTGATTCTCAGGCCTCAGCTGTCTGTTCTTCCTACACCCTGAGCAAGAGCCAATCTCCTCCCAGTTTGCAGTGTCCCTTCTGTGTTGATGACTCAGACATCCCTATGCTCAGCTCTGCTCTGGCCCTCTCTGGAGCTCTAGTCAAACGTCTTAAACCCCCTAATGGGCATTTCATCTTAACAGATACTCATGATCTCAACACATCTAAAATTGAACATTCATTATTTACAGCTAAGTCCCACCCATTCAAGTTAGTGGAGTAGAATCAGGGGAGGAGGAATGGAGCCACGGTCTAGGGTAAGGTTATGGCCATCTCCGGCTTCAGCCTTAACCTTTTTTATTCTCCTCTTTCTCTACCAGGTGTGCCTGACCCTGACAGCCAAGCGCATGGCACGGAAGAACTGCCTGGTGAAGAACCTGGAGGCGGTGGAGACGCTGGGCTCCACGTCCACCATCTGCTCGGACAAGACGGGCACCCTCACCCAGAACCGCATGACCGTCGCCCACATGTGGTTCGACAACCAAATCCATGAGGCTGACACCACCGAAGATCAGTCTGGTGATTGGGTGCTCCAGAGGGGGTGGATAGGATTAGAGGAGGCTGAGGGCAGTGGCGTGGTGGGGTGAGTGGTTGAGATAAAGGCTCTAAAGGGAGCCACGCTCCTGGTTCCCCCTCATTTCCTCCCAGGGGCCACTTTTGACAAACGATCCCCTACGTGGACGGCCCTGTCTCGAATTGCTGGTCTCTGCAACCGCGCCGTCTTCAAGGCAGGACAGGAGAACATCTCCGTGTCTAAGGTAGGGGGTCAGGACACACACCAGGTATGTTTTGGGGGTGTCTCCAAAGCCTCTTGCTGGCCCCAGCTTTCCTTCTCACATGATGTGGCTGCCTTGGGGGTTTCAGTGCCGCCTTCACCTGATCCTCCACTCCCTTCCCTCCCATGCTGACACTGAATTCTTGTCTCTTCTGGCAGCGGGACACAGCTGGTGATGCCTCTGAGTCAGCTCTGCTCAAGTGCATTGAGCTCTCCTGTGGCTCAGTGAGGAAAATGAGAGACAGAAACCCCAAGGTGGCAGAGATTCCTTTCAACTCTACCAACAAGTACCAGGTCTGCTTGGGTTGCCAGGACAGAGGAAGAGAGAGGGATATAAATGGGTGAGGGTGGACAAAGCCAAGGGGAATCATCACTAGCAGGAGTGGGGGTGTCTGAGGGTCATGTTCCCTCCCCCTGCTAAGTCCCCCAGGACAGCTCATATGACTGCATGTCTGATTGCAACTAGCCCCAGCTCCCAAACCTTACTCCATCCCTTACTACAATCTGTCACTCTCTCAACTCTTCTTCCCATAGCTCCGCATCCTCTGGCCTAGCCTTCCAACTCTTCTACCCCAGTCAGTGAAACCATAATTCTGTAATTCCTTTATGGTGCCCCTTAGCCTTTAGGCACCTGTTAAATGCCAA
Task1_train_1935
With a mutation on Chromosome 1 in gene ATP1A2 (ATPase Na+/K+ transporting subunit alpha 2), classify this variant as benign or pathogenic. Include the disease if it's pathogenic.
Pathogenic; Familial hemiplegic migraine
GCTTCTAACCTTTGTTACATCAAAAGACATGTTTCACCATGCACAGACTACCCAGTTTGCCCCATCCCTGTTCTGGGTTCTAGAGATAAACAAAGGTCAATAAGAACTCCCAGAGCTGCCATCACTTAATGGCAGGGGTCCAAGCACAACTGAAACCTGTGCCCTCTGTGGTAAAGCCAGTGAGCAGAGTCAGGGCTGCATCAGAGAAGGAGTAGGAGGGAAGAGACAGAAAGAGGCCTCACTAGACCAGTGGCCTCTGAAAATAGGGCAAAGGAGGCCTCATATCCCAATCCACACTTCCCCTGTCCATTACTCATTTCTCCTCAGTGTATTATGTTTCTCTGTGGTTTTTTTCCCTTCTTCGACAAGTTGGAATTCCACTGCTTGGAATCCATGAGGGATTGGTTCCAGGACCCCCTTCGTTACCAAAATCTAAGGATCCTCAAAGGCCCTGATATGAAATCGCATAATATTTGCATATAATCTGCGCACATCCTCCCATATACTTTGAATCAACTCTAGATTACTTATAATACCGAGTGCAATGTAATTTTTATACTGTTTTGTTTTTAAATTTGTATTATTTTTATTGTTGTATTGTTATTTTTATTTAGCTCCAAATATTTTCGATCTGAGGTTGGTTGAATCTATGGACATGGAATCTGTGAATATGGAGGGCCAACTGTACAAATAAAAATCACCACACATTACATTTCCTAAGTTTGTTTTTTGTTTTGCTTTTGAGACAAGATCTTGCTTTGTCACCCAGACTGGAGTGCAGTGGTGCAATCACAGCTCACTGCAGCCTTGACCTCCCAGGCTCAAGCGATCTCCCACCTCAGCCTCCAGAGTATTTGGGACTACAGGCGCGTGATACCACACCCAGCTAATATATATATATGTATATTAGAGATGGGGTCTCACTATGTTACCCAGGCTGGCCTCAAACTCCTGGGCTCAAGTGATCCTCCTGCCTCAGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCGAGCCTGGCCAAATTTCCTAAATTTTTAATGTACTGAGATTTTGAAATTTACATTTCCCACAATTGATTTATTCAGAAATGCCTAGTAATACATTCCTATTGCTTACTCTGCAATTGGCTTTGAAAAGAGGAAAGGAAATAAATGAGATATTTGTTGAGCACCCGCTATGTTCCAGGCACTGGCCTAAGTATATTAAAGCACAATCTCATCTAAATATTAAAACAGCACCGAGATAGGAATTCAAATAAGGATTCAAACCCAAATTTGGCTGGCTCCAATGTGCATGCTTTTTTCAATACACCACCCTTCCTTCCCAGAAGACCCCTGTAATGTCACACAAGGGTTAGCAATTGCCTGGCTTCCTCTATAGAGATTCATGCCTAATGTTGAGAAAGAAAATCTTAAGACTGGATGGAAAATCCATAATGAGTGCTTTACTTTGTGTTCATAATATACTTTTGGATGGTATCAAGTATGGGAATGATTTTACCAAAATGCCACAGGCAATTTTTATTTATTGAATCTTGTCTATTTGAACTTTGAGATTATTTGCAAGCTTCTCCCCAGGCTCGAGTACAAGAGAAAATAATTTGCTGTTGTATTGATTCAAGGATTGGCGATCTATCCAGGGAAAGGAAGGCCAAGTGGGGACAACCTACTGAATGTGGCCTCCAGATCTGCGGCTTTGGCTCACCTATCCTGTGATGATTTTCCTTGCTCAGGAAATAGGATGGGACTGCAGTCCCTGGGAGCCACAAGGCACCCAACCTGATGCCCCACCATGTTGCAGGCACTGCCAGGGGCATTGTGATTGCCACAGGAGACCGGACGGTGATGGGCCGCATAGCTACTCTCGCCTCAGGCCTGGAGGTTGGGCGGACACCCATAGCAATGGAGATTGAACACTTCATCCAGCTGATCACAGGGGTCGCTGTATTCCTGGGGGTCTCCTTCTTCGTGCTCTCCCTCATCCTGGGCTACAGCTGGCTGGAGGCAGTCATCTTCCTCATCGGCATCATAGTGGCCAACGTGCCTGAGGGGCTTCTGGCCACTGTCACTGTGAGTGGGTCAGGCTGAGGTGCCACCAGGGGAGGGTCTCACTACTCTTTCCTCAGAGTGATAGAGGCACAGTTGCTTGTAGCTTCTCACTACTTTTTCCCCCTAGAGTCACTTATTGGATGCGATACTCAGAGATCACTTAATACATGGCTTAGGGTATGAGTTGAGAAATCTCAGGTGGGGCTATTCTTAGGCACTCAGTTTCTCTTTTGGAGCTTGTCACGGCTGCCTTTTCTCACGATCTGCCAGCAGTCTGGGTCTCATTCCGTCCAAGTCTCCTGTAGAGGCTGTCTCAAAGGTCACCAGTCACTAACTAGCAAATCCAGGGACCTTTTCTCAGCTCTCCTCCCTAACTCTGCTGCTGAAACAGATACTGCTGTCCACCCTCCTACCATTCTCTCTTTTGTCGATTGCTGTGATGTGTCACTATCCTGGTTCGCCTCTCCTCTGTCCCTTCCTGCTCCCCCTACACTGATTCTCAGGCCTCAGCTGTCTGTTCTTCCTACACCCTGAGCAAGAGCCAATCTCCTCCCAGTTTGCAGTGTCCCTTCTGTGTTGATGACTCAGACATCCCTATGCTCAGCTCTGCTCTGGCCCTCTCTGGAGCTCTAGTCAAACGTCTTAAACCCCCTAATGGGCATTTCATCTTAACAGATACTCATGATCTCAACACATCTAAAATTGAACATTCATTATTTACAGCTAAGTCCCACCCATTCAAGTTAGTGGAGTAGAATCAGGGGAGGAGGAATGGAGCCACGGTCTAGGGTAAGGTTATGGCCATCTCCGGCTTCAGCCTTAACCTTTTTTATTCTCCTCTTTCTCTACCAGGTGTGCCTGACCCTGACAGCCAAGCGCATGGCACGGAAGAACTGCCTGGTGAAGAACCTGGAGGCGGTGGAGACGCTGGGCTCCACGTCCACCATCTGCTCGGACAAGACGGGCACCCTCACCCAGAACCGCATGACCGTCGCCCACATGTGGTTCGACAACCAAATCCATGAGGCTGACACCACCGAAGATCAGTCTGGTGATTGGGTGCTCCAGAGGGGGTGGATAGGATTAGAGGAGGCTGAGGGCAGTGGCGTGGTGGGGTGAGTGGTTGAGATAAAGGCTCTAAAGGGAGCCACGCTCCTGGTTCCCCCTCATTTCCTCCCAGGGGCCACTTTTGACAAACGATCCCCTACGTGGACGGCCCTGTCTCGAATTGCTGGTCTCTGCAACCGCGCCGTCTTCAAGGCAGGACAGGAGAACATCTCCGTGTCTAAGGTAGGGGGTCAGGACACACACCAGGTATGTTTTGGGGGTGTCTCCAAAGCCTCTTGCTGGCCCCAGCTTTCCTTCTCACATGATGTGGCTGCCTTGGGGGTTTCAGTGCCGCCTTCACCTGATCCTCCACTCCCTTCCCTCCCATGCTGACACTGAATTCTTGTCTCTTCTGGCAGCGGGACACAGCTGGTGATGCCTCTGAGTCAGCTCTGCTCAAGTGCATTGAGCTCTCCTGTGGCTCAGTGAGGAAAATGAGAGACAGAAACCCCAAGGTGGCAGAGATTCCTTTCAACTCTACCAACAAGTACCAGGTCTGCTTGGGTTGCCAGGACAGAGGAAGAGAGAGGGATATAAATGGGTGAGGGTGGACAAAGCCAAGGGGAATCATCACTAGCAGGAGTGGGGGTGTCTGAGGGTCATGTTCCCTCCCCCTGCTAAGTCCCCCAGGACAGCTCATATGACTGCATGTCTGATTGCAACTAGCCCCAGCTCCCAAACCTTACTCCATCCCTTACTACAATCTGTCACTCTCTCAACTCTTCTTCCCATAGCTCCGCATCCTCTGGCCTAGCCTTCCAACTCTTCTACCCCAGTCAGTGAAACCATAATTCTGTAATTCCTTTATGGTGCCCCTTAGCCTTTAGGCACCTGTTAAATGCCAAGAATGCAATCTCAGCATTCCTTATTATCCATAGAGGTAAAGCCCCCTGAGGCCAGGTGGTGGTGGGGATGCTGAGGAGGGAGCCGTTCAG
GCTTCTAACCTTTGTTACATCAAAAGACATGTTTCACCATGCACAGACTACCCAGTTTGCCCCATCCCTGTTCTGGGTTCTAGAGATAAACAAAGGTCAATAAGAACTCCCAGAGCTGCCATCACTTAATGGCAGGGGTCCAAGCACAACTGAAACCTGTGCCCTCTGTGGTAAAGCCAGTGAGCAGAGTCAGGGCTGCATCAGAGAAGGAGTAGGAGGGAAGAGACAGAAAGAGGCCTCACTAGACCAGTGGCCTCTGAAAATAGGGCAAAGGAGGCCTCATATCCCAATCCACACTTCCCCTGTCCATTACTCATTTCTCCTCAGTGTATTATGTTTCTCTGTGGTTTTTTTCCCTTCTTCGACAAGTTGGAATTCCACTGCTTGGAATCCATGAGGGATTGGTTCCAGGACCCCCTTCGTTACCAAAATCTAAGGATCCTCAAAGGCCCTGATATGAAATCGCATAATATTTGCATATAATCTGCGCACATCCTCCCATATACTTTGAATCAACTCTAGATTACTTATAATACCGAGTGCAATGTAATTTTTATACTGTTTTGTTTTTAAATTTGTATTATTTTTATTGTTGTATTGTTATTTTTATTTAGCTCCAAATATTTTCGATCTGAGGTTGGTTGAATCTATGGACATGGAATCTGTGAATATGGAGGGCCAACTGTACAAATAAAAATCACCACACATTACATTTCCTAAGTTTGTTTTTTGTTTTGCTTTTGAGACAAGATCTTGCTTTGTCACCCAGACTGGAGTGCAGTGGTGCAATCACAGCTCACTGCAGCCTTGACCTCCCAGGCTCAAGCGATCTCCCACCTCAGCCTCCAGAGTATTTGGGACTACAGGCGCGTGATACCACACCCAGCTAATATATATATATGTATATTAGAGATGGGGTCTCACTATGTTACCCAGGCTGGCCTCAAACTCCTGGGCTCAAGTGATCCTCCTGCCTCAGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCGAGCCTGGCCAAATTTCCTAAATTTTTAATGTACTGAGATTTTGAAATTTACATTTCCCACAATTGATTTATTCAGAAATGCCTAGTAATACATTCCTATTGCTTACTCTGCAATTGGCTTTGAAAAGAGGAAAGGAAATAAATGAGATATTTGTTGAGCACCCGCTATGTTCCAGGCACTGGCCTAAGTATATTAAAGCACAATCTCATCTAAATATTAAAACAGCACCGAGATAGGAATTCAAATAAGGATTCAAACCCAAATTTGGCTGGCTCCAATGTGCATGCTTTTTTCAATACACCACCCTTCCTTCCCAGAAGACCCCTGTAATGTCACACAAGGGTTAGCAATTGCCTGGCTTCCTCTATAGAGATTCATGCCTAATGTTGAGAAAGAAAATCTTAAGACTGGATGGAAAATCCATAATGAGTGCTTTACTTTGTGTTCATAATATACTTTTGGATGGTATCAAGTATGGGAATGATTTTACCAAAATGCCACAGGCAATTTTTATTTATTGAATCTTGTCTATTTGAACTTTGAGATTATTTGCAAGCTTCTCCCCAGGCTCGAGTACAAGAGAAAATAATTTGCTGTTGTATTGATTCAAGGATTGGCGATCTATCCAGGGAAAGGAAGGCCAAGTGGGGACAACCTACTGAATGTGGCCTCCAGATCTGCGGCTTTGGCTCACCTATCCTGTGATGATTTTCCTTGCTCAGGAAATAGGATGGGACTGCAGTCCCTGGGAGCCACAAGGCACCCAACCTGATGCCCCACCATGTTGCAGGCACTGCCAGGGGCATTGTGATTGCCACAGGAGACCGGACGGTGATGGGCCGCATAGCTACTCTCGCCTCAGGCCTGGAGGTTGGGCGGACACCCATAGCAATGGAGATTGAACACTTCATCCAGCTGATCACAGGGGTCGCTGTATTCCTGGGGGTCTCCTTCTTCGTGCTCTCCCTCATCCTGGGCTACAGCTGGCTGGAGGCAGTCATCTTCCTCATCGGCATCATAGTGGCCAACGTGGCTGAGGGGCTTCTGGCCACTGTCACTGTGAGTGGGTCAGGCTGAGGTGCCACCAGGGGAGGGTCTCACTACTCTTTCCTCAGAGTGATAGAGGCACAGTTGCTTGTAGCTTCTCACTACTTTTTCCCCCTAGAGTCACTTATTGGATGCGATACTCAGAGATCACTTAATACATGGCTTAGGGTATGAGTTGAGAAATCTCAGGTGGGGCTATTCTTAGGCACTCAGTTTCTCTTTTGGAGCTTGTCACGGCTGCCTTTTCTCACGATCTGCCAGCAGTCTGGGTCTCATTCCGTCCAAGTCTCCTGTAGAGGCTGTCTCAAAGGTCACCAGTCACTAACTAGCAAATCCAGGGACCTTTTCTCAGCTCTCCTCCCTAACTCTGCTGCTGAAACAGATACTGCTGTCCACCCTCCTACCATTCTCTCTTTTGTCGATTGCTGTGATGTGTCACTATCCTGGTTCGCCTCTCCTCTGTCCCTTCCTGCTCCCCCTACACTGATTCTCAGGCCTCAGCTGTCTGTTCTTCCTACACCCTGAGCAAGAGCCAATCTCCTCCCAGTTTGCAGTGTCCCTTCTGTGTTGATGACTCAGACATCCCTATGCTCAGCTCTGCTCTGGCCCTCTCTGGAGCTCTAGTCAAACGTCTTAAACCCCCTAATGGGCATTTCATCTTAACAGATACTCATGATCTCAACACATCTAAAATTGAACATTCATTATTTACAGCTAAGTCCCACCCATTCAAGTTAGTGGAGTAGAATCAGGGGAGGAGGAATGGAGCCACGGTCTAGGGTAAGGTTATGGCCATCTCCGGCTTCAGCCTTAACCTTTTTTATTCTCCTCTTTCTCTACCAGGTGTGCCTGACCCTGACAGCCAAGCGCATGGCACGGAAGAACTGCCTGGTGAAGAACCTGGAGGCGGTGGAGACGCTGGGCTCCACGTCCACCATCTGCTCGGACAAGACGGGCACCCTCACCCAGAACCGCATGACCGTCGCCCACATGTGGTTCGACAACCAAATCCATGAGGCTGACACCACCGAAGATCAGTCTGGTGATTGGGTGCTCCAGAGGGGGTGGATAGGATTAGAGGAGGCTGAGGGCAGTGGCGTGGTGGGGTGAGTGGTTGAGATAAAGGCTCTAAAGGGAGCCACGCTCCTGGTTCCCCCTCATTTCCTCCCAGGGGCCACTTTTGACAAACGATCCCCTACGTGGACGGCCCTGTCTCGAATTGCTGGTCTCTGCAACCGCGCCGTCTTCAAGGCAGGACAGGAGAACATCTCCGTGTCTAAGGTAGGGGGTCAGGACACACACCAGGTATGTTTTGGGGGTGTCTCCAAAGCCTCTTGCTGGCCCCAGCTTTCCTTCTCACATGATGTGGCTGCCTTGGGGGTTTCAGTGCCGCCTTCACCTGATCCTCCACTCCCTTCCCTCCCATGCTGACACTGAATTCTTGTCTCTTCTGGCAGCGGGACACAGCTGGTGATGCCTCTGAGTCAGCTCTGCTCAAGTGCATTGAGCTCTCCTGTGGCTCAGTGAGGAAAATGAGAGACAGAAACCCCAAGGTGGCAGAGATTCCTTTCAACTCTACCAACAAGTACCAGGTCTGCTTGGGTTGCCAGGACAGAGGAAGAGAGAGGGATATAAATGGGTGAGGGTGGACAAAGCCAAGGGGAATCATCACTAGCAGGAGTGGGGGTGTCTGAGGGTCATGTTCCCTCCCCCTGCTAAGTCCCCCAGGACAGCTCATATGACTGCATGTCTGATTGCAACTAGCCCCAGCTCCCAAACCTTACTCCATCCCTTACTACAATCTGTCACTCTCTCAACTCTTCTTCCCATAGCTCCGCATCCTCTGGCCTAGCCTTCCAACTCTTCTACCCCAGTCAGTGAAACCATAATTCTGTAATTCCTTTATGGTGCCCCTTAGCCTTTAGGCACCTGTTAAATGCCAAGAATGCAATCTCAGCATTCCTTATTATCCATAGAGGTAAAGCCCCCTGAGGCCAGGTGGTGGTGGGGATGCTGAGGAGGGAGCCGTTCAG
Task1_train_1936
The gene ATP1A2 (ATPase Na+/K+ transporting subunit alpha 2) on Chromosome 1 carries this variant. Does this mutation lead to a specific disease, or is it non-pathogenic?
Pathogenic; Migraine, familial hemiplegic, 2
ATACCACACCCAGCTAATATATATATATGTATATTAGAGATGGGGTCTCACTATGTTACCCAGGCTGGCCTCAAACTCCTGGGCTCAAGTGATCCTCCTGCCTCAGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCGAGCCTGGCCAAATTTCCTAAATTTTTAATGTACTGAGATTTTGAAATTTACATTTCCCACAATTGATTTATTCAGAAATGCCTAGTAATACATTCCTATTGCTTACTCTGCAATTGGCTTTGAAAAGAGGAAAGGAAATAAATGAGATATTTGTTGAGCACCCGCTATGTTCCAGGCACTGGCCTAAGTATATTAAAGCACAATCTCATCTAAATATTAAAACAGCACCGAGATAGGAATTCAAATAAGGATTCAAACCCAAATTTGGCTGGCTCCAATGTGCATGCTTTTTTCAATACACCACCCTTCCTTCCCAGAAGACCCCTGTAATGTCACACAAGGGTTAGCAATTGCCTGGCTTCCTCTATAGAGATTCATGCCTAATGTTGAGAAAGAAAATCTTAAGACTGGATGGAAAATCCATAATGAGTGCTTTACTTTGTGTTCATAATATACTTTTGGATGGTATCAAGTATGGGAATGATTTTACCAAAATGCCACAGGCAATTTTTATTTATTGAATCTTGTCTATTTGAACTTTGAGATTATTTGCAAGCTTCTCCCCAGGCTCGAGTACAAGAGAAAATAATTTGCTGTTGTATTGATTCAAGGATTGGCGATCTATCCAGGGAAAGGAAGGCCAAGTGGGGACAACCTACTGAATGTGGCCTCCAGATCTGCGGCTTTGGCTCACCTATCCTGTGATGATTTTCCTTGCTCAGGAAATAGGATGGGACTGCAGTCCCTGGGAGCCACAAGGCACCCAACCTGATGCCCCACCATGTTGCAGGCACTGCCAGGGGCATTGTGATTGCCACAGGAGACCGGACGGTGATGGGCCGCATAGCTACTCTCGCCTCAGGCCTGGAGGTTGGGCGGACACCCATAGCAATGGAGATTGAACACTTCATCCAGCTGATCACAGGGGTCGCTGTATTCCTGGGGGTCTCCTTCTTCGTGCTCTCCCTCATCCTGGGCTACAGCTGGCTGGAGGCAGTCATCTTCCTCATCGGCATCATAGTGGCCAACGTGCCTGAGGGGCTTCTGGCCACTGTCACTGTGAGTGGGTCAGGCTGAGGTGCCACCAGGGGAGGGTCTCACTACTCTTTCCTCAGAGTGATAGAGGCACAGTTGCTTGTAGCTTCTCACTACTTTTTCCCCCTAGAGTCACTTATTGGATGCGATACTCAGAGATCACTTAATACATGGCTTAGGGTATGAGTTGAGAAATCTCAGGTGGGGCTATTCTTAGGCACTCAGTTTCTCTTTTGGAGCTTGTCACGGCTGCCTTTTCTCACGATCTGCCAGCAGTCTGGGTCTCATTCCGTCCAAGTCTCCTGTAGAGGCTGTCTCAAAGGTCACCAGTCACTAACTAGCAAATCCAGGGACCTTTTCTCAGCTCTCCTCCCTAACTCTGCTGCTGAAACAGATACTGCTGTCCACCCTCCTACCATTCTCTCTTTTGTCGATTGCTGTGATGTGTCACTATCCTGGTTCGCCTCTCCTCTGTCCCTTCCTGCTCCCCCTACACTGATTCTCAGGCCTCAGCTGTCTGTTCTTCCTACACCCTGAGCAAGAGCCAATCTCCTCCCAGTTTGCAGTGTCCCTTCTGTGTTGATGACTCAGACATCCCTATGCTCAGCTCTGCTCTGGCCCTCTCTGGAGCTCTAGTCAAACGTCTTAAACCCCCTAATGGGCATTTCATCTTAACAGATACTCATGATCTCAACACATCTAAAATTGAACATTCATTATTTACAGCTAAGTCCCACCCATTCAAGTTAGTGGAGTAGAATCAGGGGAGGAGGAATGGAGCCACGGTCTAGGGTAAGGTTATGGCCATCTCCGGCTTCAGCCTTAACCTTTTTTATTCTCCTCTTTCTCTACCAGGTGTGCCTGACCCTGACAGCCAAGCGCATGGCACGGAAGAACTGCCTGGTGAAGAACCTGGAGGCGGTGGAGACGCTGGGCTCCACGTCCACCATCTGCTCGGACAAGACGGGCACCCTCACCCAGAACCGCATGACCGTCGCCCACATGTGGTTCGACAACCAAATCCATGAGGCTGACACCACCGAAGATCAGTCTGGTGATTGGGTGCTCCAGAGGGGGTGGATAGGATTAGAGGAGGCTGAGGGCAGTGGCGTGGTGGGGTGAGTGGTTGAGATAAAGGCTCTAAAGGGAGCCACGCTCCTGGTTCCCCCTCATTTCCTCCCAGGGGCCACTTTTGACAAACGATCCCCTACGTGGACGGCCCTGTCTCGAATTGCTGGTCTCTGCAACCGCGCCGTCTTCAAGGCAGGACAGGAGAACATCTCCGTGTCTAAGGTAGGGGGTCAGGACACACACCAGGTATGTTTTGGGGGTGTCTCCAAAGCCTCTTGCTGGCCCCAGCTTTCCTTCTCACATGATGTGGCTGCCTTGGGGGTTTCAGTGCCGCCTTCACCTGATCCTCCACTCCCTTCCCTCCCATGCTGACACTGAATTCTTGTCTCTTCTGGCAGCGGGACACAGCTGGTGATGCCTCTGAGTCAGCTCTGCTCAAGTGCATTGAGCTCTCCTGTGGCTCAGTGAGGAAAATGAGAGACAGAAACCCCAAGGTGGCAGAGATTCCTTTCAACTCTACCAACAAGTACCAGGTCTGCTTGGGTTGCCAGGACAGAGGAAGAGAGAGGGATATAAATGGGTGAGGGTGGACAAAGCCAAGGGGAATCATCACTAGCAGGAGTGGGGGTGTCTGAGGGTCATGTTCCCTCCCCCTGCTAAGTCCCCCAGGACAGCTCATATGACTGCATGTCTGATTGCAACTAGCCCCAGCTCCCAAACCTTACTCCATCCCTTACTACAATCTGTCACTCTCTCAACTCTTCTTCCCATAGCTCCGCATCCTCTGGCCTAGCCTTCCAACTCTTCTACCCCAGTCAGTGAAACCATAATTCTGTAATTCCTTTATGGTGCCCCTTAGCCTTTAGGCACCTGTTAAATGCCAAGAATGCAATCTCAGCATTCCTTATTATCCATAGAGGTAAAGCCCCCTGAGGCCAGGTGGTGGTGGGGATGCTGAGGAGGGAGCCGTTCAGCCCCTAGCACAGTGCCTGTCTTAACCTGACCTCAATAAATATTTGTTGAATGAAAGACTGTCCTACGGAGGTGGCTCTCAGGTTACAAGTGTTGGAACTGTGAGGTCTAAACACCCCCCTGCACAAGGAGATTCTCTTTGTTGACAATCTTTGATGGGTTGGGGCTACTTTTCTAAGGTGGTTTCCTTACCAGCTGCTGCTCTATGCCGCGCTACCAAGACAAGTATGGCCCTCTCTGTAACTACCTGTTGTCTCTCCAGCTGTCTATCCACGAGCGAGAAGACAGCCCCCAGAGCCACGTGCTGGTGATGAAGGGGGCCCCAGAGCGCATTCTGGACCGGTGCTCCACCATCCTGGTGCAGGGCAAGGAGATCCCGCTCGACAAGGAGATGCAAGATGCCTTTCAAAATGCCTACATGGAGCTGGGGGGACTTGGGGAGCGTGTGCTGGGTGAGAGGCCAGAAACAGGAGGCTCAGAAGGGGATTCCCAAGCCTCTGCGGCATCCCTGGGGTGGGGGACTGTGGGGGCGTCCAGGAAGCCACTCTGCGGATCTCACTGATCCCTTCTGCCCCCCTTTAGGATTCTGTCAACTGAATCTGCCATCTGGAAAGTTTCCTCGGGGCTTCAAATTCGACACGGATGAGCTGAACTTTCCCACGGAGAAGCTTTGCTTTGTGGGGCTCATGTCTATGATTGACCCTCCCCGGGCTGCTGTGCCAGATGCTGTGGGCAAGTGCCGAAGCGCAGGCATCAAGGTACTGGCCTCCCATCCTCCCCTCCATTCTAGCCTCCCCCATGCCAGAGTTCAAGGAGCTGCAGTGGCTGCTGCCCTGGAAAGGCCCAGGCCACGGTGGCCTCCTTCCCACTGACTC
ATACCACACCCAGCTAATATATATATATGTATATTAGAGATGGGGTCTCACTATGTTACCCAGGCTGGCCTCAAACTCCTGGGCTCAAGTGATCCTCCTGCCTCAGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCGAGCCTGGCCAAATTTCCTAAATTTTTAATGTACTGAGATTTTGAAATTTACATTTCCCACAATTGATTTATTCAGAAATGCCTAGTAATACATTCCTATTGCTTACTCTGCAATTGGCTTTGAAAAGAGGAAAGGAAATAAATGAGATATTTGTTGAGCACCCGCTATGTTCCAGGCACTGGCCTAAGTATATTAAAGCACAATCTCATCTAAATATTAAAACAGCACCGAGATAGGAATTCAAATAAGGATTCAAACCCAAATTTGGCTGGCTCCAATGTGCATGCTTTTTTCAATACACCACCCTTCCTTCCCAGAAGACCCCTGTAATGTCACACAAGGGTTAGCAATTGCCTGGCTTCCTCTATAGAGATTCATGCCTAATGTTGAGAAAGAAAATCTTAAGACTGGATGGAAAATCCATAATGAGTGCTTTACTTTGTGTTCATAATATACTTTTGGATGGTATCAAGTATGGGAATGATTTTACCAAAATGCCACAGGCAATTTTTATTTATTGAATCTTGTCTATTTGAACTTTGAGATTATTTGCAAGCTTCTCCCCAGGCTCGAGTACAAGAGAAAATAATTTGCTGTTGTATTGATTCAAGGATTGGCGATCTATCCAGGGAAAGGAAGGCCAAGTGGGGACAACCTACTGAATGTGGCCTCCAGATCTGCGGCTTTGGCTCACCTATCCTGTGATGATTTTCCTTGCTCAGGAAATAGGATGGGACTGCAGTCCCTGGGAGCCACAAGGCACCCAACCTGATGCCCCACCATGTTGCAGGCACTGCCAGGGGCATTGTGATTGCCACAGGAGACCGGACGGTGATGGGCCGCATAGCTACTCTCGCCTCAGGCCTGGAGGTTGGGCGGACACCCATAGCAATGGAGATTGAACACTTCATCCAGCTGATCACAGGGGTCGCTGTATTCCTGGGGGTCTCCTTCTTCGTGCTCTCCCTCATCCTGGGCTACAGCTGGCTGGAGGCAGTCATCTTCCTCATCGGCATCATAGTGGCCAACGTGCCTGAGGGGCTTCTGGCCACTGTCACTGTGAGTGGGTCAGGCTGAGGTGCCACCAGGGGAGGGTCTCACTACTCTTTCCTCAGAGTGATAGAGGCACAGTTGCTTGTAGCTTCTCACTACTTTTTCCCCCTAGAGTCACTTATTGGATGCGATACTCAGAGATCACTTAATACATGGCTTAGGGTATGAGTTGAGAAATCTCAGGTGGGGCTATTCTTAGGCACTCAGTTTCTCTTTTGGAGCTTGTCACGGCTGCCTTTTCTCACGATCTGCCAGCAGTCTGGGTCTCATTCCGTCCAAGTCTCCTGTAGAGGCTGTCTCAAAGGTCACCAGTCACTAACTAGCAAATCCAGGGACCTTTTCTCAGCTCTCCTCCCTAACTCTGCTGCTGAAACAGATACTGCTGTCCACCCTCCTACCATTCTCTCTTTTGTCGATTGCTGTGATGTGTCACTATCCTGGTTCGCCTCTCCTCTGTCCCTTCCTGCTCCCCCTACACTGATTCTCAGGCCTCAGCTGTCTGTTCTTCCTACACCCTGAGCAAGAGCCAATCTCCTCCCAGTTTGCAGTGTCCCTTCTGTGTTGATGACTCAGACATCCCTATGCTCAGCTCTGCTCTGGCCCTCTCTGGAGCTCTAGTCAAACGTCTTAAACCCCCTAATGGGCATTTCATCTTAACAGATACTCATGATCTCAACACATCTAAAATTGAACATTCATTATTTACAGCTAAGTCCCACCCATTCAAGTTAGTGGAGTAGAATCAGGGGAGGAGGAATGGAGCCACGGTCTAGGGTAAGGTTATGGCCATCTCCGGCTTCAGCCTTAACCTTTTTTATTCTCCTCTTTCTCTACCAGGTGTGCCTGACCCTGGCAGCCAAGCGCATGGCACGGAAGAACTGCCTGGTGAAGAACCTGGAGGCGGTGGAGACGCTGGGCTCCACGTCCACCATCTGCTCGGACAAGACGGGCACCCTCACCCAGAACCGCATGACCGTCGCCCACATGTGGTTCGACAACCAAATCCATGAGGCTGACACCACCGAAGATCAGTCTGGTGATTGGGTGCTCCAGAGGGGGTGGATAGGATTAGAGGAGGCTGAGGGCAGTGGCGTGGTGGGGTGAGTGGTTGAGATAAAGGCTCTAAAGGGAGCCACGCTCCTGGTTCCCCCTCATTTCCTCCCAGGGGCCACTTTTGACAAACGATCCCCTACGTGGACGGCCCTGTCTCGAATTGCTGGTCTCTGCAACCGCGCCGTCTTCAAGGCAGGACAGGAGAACATCTCCGTGTCTAAGGTAGGGGGTCAGGACACACACCAGGTATGTTTTGGGGGTGTCTCCAAAGCCTCTTGCTGGCCCCAGCTTTCCTTCTCACATGATGTGGCTGCCTTGGGGGTTTCAGTGCCGCCTTCACCTGATCCTCCACTCCCTTCCCTCCCATGCTGACACTGAATTCTTGTCTCTTCTGGCAGCGGGACACAGCTGGTGATGCCTCTGAGTCAGCTCTGCTCAAGTGCATTGAGCTCTCCTGTGGCTCAGTGAGGAAAATGAGAGACAGAAACCCCAAGGTGGCAGAGATTCCTTTCAACTCTACCAACAAGTACCAGGTCTGCTTGGGTTGCCAGGACAGAGGAAGAGAGAGGGATATAAATGGGTGAGGGTGGACAAAGCCAAGGGGAATCATCACTAGCAGGAGTGGGGGTGTCTGAGGGTCATGTTCCCTCCCCCTGCTAAGTCCCCCAGGACAGCTCATATGACTGCATGTCTGATTGCAACTAGCCCCAGCTCCCAAACCTTACTCCATCCCTTACTACAATCTGTCACTCTCTCAACTCTTCTTCCCATAGCTCCGCATCCTCTGGCCTAGCCTTCCAACTCTTCTACCCCAGTCAGTGAAACCATAATTCTGTAATTCCTTTATGGTGCCCCTTAGCCTTTAGGCACCTGTTAAATGCCAAGAATGCAATCTCAGCATTCCTTATTATCCATAGAGGTAAAGCCCCCTGAGGCCAGGTGGTGGTGGGGATGCTGAGGAGGGAGCCGTTCAGCCCCTAGCACAGTGCCTGTCTTAACCTGACCTCAATAAATATTTGTTGAATGAAAGACTGTCCTACGGAGGTGGCTCTCAGGTTACAAGTGTTGGAACTGTGAGGTCTAAACACCCCCCTGCACAAGGAGATTCTCTTTGTTGACAATCTTTGATGGGTTGGGGCTACTTTTCTAAGGTGGTTTCCTTACCAGCTGCTGCTCTATGCCGCGCTACCAAGACAAGTATGGCCCTCTCTGTAACTACCTGTTGTCTCTCCAGCTGTCTATCCACGAGCGAGAAGACAGCCCCCAGAGCCACGTGCTGGTGATGAAGGGGGCCCCAGAGCGCATTCTGGACCGGTGCTCCACCATCCTGGTGCAGGGCAAGGAGATCCCGCTCGACAAGGAGATGCAAGATGCCTTTCAAAATGCCTACATGGAGCTGGGGGGACTTGGGGAGCGTGTGCTGGGTGAGAGGCCAGAAACAGGAGGCTCAGAAGGGGATTCCCAAGCCTCTGCGGCATCCCTGGGGTGGGGGACTGTGGGGGCGTCCAGGAAGCCACTCTGCGGATCTCACTGATCCCTTCTGCCCCCCTTTAGGATTCTGTCAACTGAATCTGCCATCTGGAAAGTTTCCTCGGGGCTTCAAATTCGACACGGATGAGCTGAACTTTCCCACGGAGAAGCTTTGCTTTGTGGGGCTCATGTCTATGATTGACCCTCCCCGGGCTGCTGTGCCAGATGCTGTGGGCAAGTGCCGAAGCGCAGGCATCAAGGTACTGGCCTCCCATCCTCCCCTCCATTCTAGCCTCCCCCATGCCAGAGTTCAAGGAGCTGCAGTGGCTGCTGCCCTGGAAAGGCCCAGGCCACGGTGGCCTCCTTCCCACTGACTC
Task1_train_1937
Gene ATP1A2 (ATPase Na+/K+ transporting subunit alpha 2), found on Chromosome 1, is impacted by this variant. What is the biological outcome — benign or pathogenic?
Pathogenic; Familial hemiplegic migraine
CTGGCCTCAAACTCCTGGGCTCAAGTGATCCTCCTGCCTCAGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCGAGCCTGGCCAAATTTCCTAAATTTTTAATGTACTGAGATTTTGAAATTTACATTTCCCACAATTGATTTATTCAGAAATGCCTAGTAATACATTCCTATTGCTTACTCTGCAATTGGCTTTGAAAAGAGGAAAGGAAATAAATGAGATATTTGTTGAGCACCCGCTATGTTCCAGGCACTGGCCTAAGTATATTAAAGCACAATCTCATCTAAATATTAAAACAGCACCGAGATAGGAATTCAAATAAGGATTCAAACCCAAATTTGGCTGGCTCCAATGTGCATGCTTTTTTCAATACACCACCCTTCCTTCCCAGAAGACCCCTGTAATGTCACACAAGGGTTAGCAATTGCCTGGCTTCCTCTATAGAGATTCATGCCTAATGTTGAGAAAGAAAATCTTAAGACTGGATGGAAAATCCATAATGAGTGCTTTACTTTGTGTTCATAATATACTTTTGGATGGTATCAAGTATGGGAATGATTTTACCAAAATGCCACAGGCAATTTTTATTTATTGAATCTTGTCTATTTGAACTTTGAGATTATTTGCAAGCTTCTCCCCAGGCTCGAGTACAAGAGAAAATAATTTGCTGTTGTATTGATTCAAGGATTGGCGATCTATCCAGGGAAAGGAAGGCCAAGTGGGGACAACCTACTGAATGTGGCCTCCAGATCTGCGGCTTTGGCTCACCTATCCTGTGATGATTTTCCTTGCTCAGGAAATAGGATGGGACTGCAGTCCCTGGGAGCCACAAGGCACCCAACCTGATGCCCCACCATGTTGCAGGCACTGCCAGGGGCATTGTGATTGCCACAGGAGACCGGACGGTGATGGGCCGCATAGCTACTCTCGCCTCAGGCCTGGAGGTTGGGCGGACACCCATAGCAATGGAGATTGAACACTTCATCCAGCTGATCACAGGGGTCGCTGTATTCCTGGGGGTCTCCTTCTTCGTGCTCTCCCTCATCCTGGGCTACAGCTGGCTGGAGGCAGTCATCTTCCTCATCGGCATCATAGTGGCCAACGTGCCTGAGGGGCTTCTGGCCACTGTCACTGTGAGTGGGTCAGGCTGAGGTGCCACCAGGGGAGGGTCTCACTACTCTTTCCTCAGAGTGATAGAGGCACAGTTGCTTGTAGCTTCTCACTACTTTTTCCCCCTAGAGTCACTTATTGGATGCGATACTCAGAGATCACTTAATACATGGCTTAGGGTATGAGTTGAGAAATCTCAGGTGGGGCTATTCTTAGGCACTCAGTTTCTCTTTTGGAGCTTGTCACGGCTGCCTTTTCTCACGATCTGCCAGCAGTCTGGGTCTCATTCCGTCCAAGTCTCCTGTAGAGGCTGTCTCAAAGGTCACCAGTCACTAACTAGCAAATCCAGGGACCTTTTCTCAGCTCTCCTCCCTAACTCTGCTGCTGAAACAGATACTGCTGTCCACCCTCCTACCATTCTCTCTTTTGTCGATTGCTGTGATGTGTCACTATCCTGGTTCGCCTCTCCTCTGTCCCTTCCTGCTCCCCCTACACTGATTCTCAGGCCTCAGCTGTCTGTTCTTCCTACACCCTGAGCAAGAGCCAATCTCCTCCCAGTTTGCAGTGTCCCTTCTGTGTTGATGACTCAGACATCCCTATGCTCAGCTCTGCTCTGGCCCTCTCTGGAGCTCTAGTCAAACGTCTTAAACCCCCTAATGGGCATTTCATCTTAACAGATACTCATGATCTCAACACATCTAAAATTGAACATTCATTATTTACAGCTAAGTCCCACCCATTCAAGTTAGTGGAGTAGAATCAGGGGAGGAGGAATGGAGCCACGGTCTAGGGTAAGGTTATGGCCATCTCCGGCTTCAGCCTTAACCTTTTTTATTCTCCTCTTTCTCTACCAGGTGTGCCTGACCCTGACAGCCAAGCGCATGGCACGGAAGAACTGCCTGGTGAAGAACCTGGAGGCGGTGGAGACGCTGGGCTCCACGTCCACCATCTGCTCGGACAAGACGGGCACCCTCACCCAGAACCGCATGACCGTCGCCCACATGTGGTTCGACAACCAAATCCATGAGGCTGACACCACCGAAGATCAGTCTGGTGATTGGGTGCTCCAGAGGGGGTGGATAGGATTAGAGGAGGCTGAGGGCAGTGGCGTGGTGGGGTGAGTGGTTGAGATAAAGGCTCTAAAGGGAGCCACGCTCCTGGTTCCCCCTCATTTCCTCCCAGGGGCCACTTTTGACAAACGATCCCCTACGTGGACGGCCCTGTCTCGAATTGCTGGTCTCTGCAACCGCGCCGTCTTCAAGGCAGGACAGGAGAACATCTCCGTGTCTAAGGTAGGGGGTCAGGACACACACCAGGTATGTTTTGGGGGTGTCTCCAAAGCCTCTTGCTGGCCCCAGCTTTCCTTCTCACATGATGTGGCTGCCTTGGGGGTTTCAGTGCCGCCTTCACCTGATCCTCCACTCCCTTCCCTCCCATGCTGACACTGAATTCTTGTCTCTTCTGGCAGCGGGACACAGCTGGTGATGCCTCTGAGTCAGCTCTGCTCAAGTGCATTGAGCTCTCCTGTGGCTCAGTGAGGAAAATGAGAGACAGAAACCCCAAGGTGGCAGAGATTCCTTTCAACTCTACCAACAAGTACCAGGTCTGCTTGGGTTGCCAGGACAGAGGAAGAGAGAGGGATATAAATGGGTGAGGGTGGACAAAGCCAAGGGGAATCATCACTAGCAGGAGTGGGGGTGTCTGAGGGTCATGTTCCCTCCCCCTGCTAAGTCCCCCAGGACAGCTCATATGACTGCATGTCTGATTGCAACTAGCCCCAGCTCCCAAACCTTACTCCATCCCTTACTACAATCTGTCACTCTCTCAACTCTTCTTCCCATAGCTCCGCATCCTCTGGCCTAGCCTTCCAACTCTTCTACCCCAGTCAGTGAAACCATAATTCTGTAATTCCTTTATGGTGCCCCTTAGCCTTTAGGCACCTGTTAAATGCCAAGAATGCAATCTCAGCATTCCTTATTATCCATAGAGGTAAAGCCCCCTGAGGCCAGGTGGTGGTGGGGATGCTGAGGAGGGAGCCGTTCAGCCCCTAGCACAGTGCCTGTCTTAACCTGACCTCAATAAATATTTGTTGAATGAAAGACTGTCCTACGGAGGTGGCTCTCAGGTTACAAGTGTTGGAACTGTGAGGTCTAAACACCCCCCTGCACAAGGAGATTCTCTTTGTTGACAATCTTTGATGGGTTGGGGCTACTTTTCTAAGGTGGTTTCCTTACCAGCTGCTGCTCTATGCCGCGCTACCAAGACAAGTATGGCCCTCTCTGTAACTACCTGTTGTCTCTCCAGCTGTCTATCCACGAGCGAGAAGACAGCCCCCAGAGCCACGTGCTGGTGATGAAGGGGGCCCCAGAGCGCATTCTGGACCGGTGCTCCACCATCCTGGTGCAGGGCAAGGAGATCCCGCTCGACAAGGAGATGCAAGATGCCTTTCAAAATGCCTACATGGAGCTGGGGGGACTTGGGGAGCGTGTGCTGGGTGAGAGGCCAGAAACAGGAGGCTCAGAAGGGGATTCCCAAGCCTCTGCGGCATCCCTGGGGTGGGGGACTGTGGGGGCGTCCAGGAAGCCACTCTGCGGATCTCACTGATCCCTTCTGCCCCCCTTTAGGATTCTGTCAACTGAATCTGCCATCTGGAAAGTTTCCTCGGGGCTTCAAATTCGACACGGATGAGCTGAACTTTCCCACGGAGAAGCTTTGCTTTGTGGGGCTCATGTCTATGATTGACCCTCCCCGGGCTGCTGTGCCAGATGCTGTGGGCAAGTGCCGAAGCGCAGGCATCAAGGTACTGGCCTCCCATCCTCCCCTCCATTCTAGCCTCCCCCATGCCAGAGTTCAAGGAGCTGCAGTGGCTGCTGCCCTGGAAAGGCCCAGGCCACGGTGGCCTCCTTCCCACTGACTCAGAGAAGAAGCTGTCCATCTGCAAGGAAAGGCCCACCCCTGCCTTGGGGCACTCACCCTTATCC
CTGGCCTCAAACTCCTGGGCTCAAGTGATCCTCCTGCCTCAGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCGAGCCTGGCCAAATTTCCTAAATTTTTAATGTACTGAGATTTTGAAATTTACATTTCCCACAATTGATTTATTCAGAAATGCCTAGTAATACATTCCTATTGCTTACTCTGCAATTGGCTTTGAAAAGAGGAAAGGAAATAAATGAGATATTTGTTGAGCACCCGCTATGTTCCAGGCACTGGCCTAAGTATATTAAAGCACAATCTCATCTAAATATTAAAACAGCACCGAGATAGGAATTCAAATAAGGATTCAAACCCAAATTTGGCTGGCTCCAATGTGCATGCTTTTTTCAATACACCACCCTTCCTTCCCAGAAGACCCCTGTAATGTCACACAAGGGTTAGCAATTGCCTGGCTTCCTCTATAGAGATTCATGCCTAATGTTGAGAAAGAAAATCTTAAGACTGGATGGAAAATCCATAATGAGTGCTTTACTTTGTGTTCATAATATACTTTTGGATGGTATCAAGTATGGGAATGATTTTACCAAAATGCCACAGGCAATTTTTATTTATTGAATCTTGTCTATTTGAACTTTGAGATTATTTGCAAGCTTCTCCCCAGGCTCGAGTACAAGAGAAAATAATTTGCTGTTGTATTGATTCAAGGATTGGCGATCTATCCAGGGAAAGGAAGGCCAAGTGGGGACAACCTACTGAATGTGGCCTCCAGATCTGCGGCTTTGGCTCACCTATCCTGTGATGATTTTCCTTGCTCAGGAAATAGGATGGGACTGCAGTCCCTGGGAGCCACAAGGCACCCAACCTGATGCCCCACCATGTTGCAGGCACTGCCAGGGGCATTGTGATTGCCACAGGAGACCGGACGGTGATGGGCCGCATAGCTACTCTCGCCTCAGGCCTGGAGGTTGGGCGGACACCCATAGCAATGGAGATTGAACACTTCATCCAGCTGATCACAGGGGTCGCTGTATTCCTGGGGGTCTCCTTCTTCGTGCTCTCCCTCATCCTGGGCTACAGCTGGCTGGAGGCAGTCATCTTCCTCATCGGCATCATAGTGGCCAACGTGCCTGAGGGGCTTCTGGCCACTGTCACTGTGAGTGGGTCAGGCTGAGGTGCCACCAGGGGAGGGTCTCACTACTCTTTCCTCAGAGTGATAGAGGCACAGTTGCTTGTAGCTTCTCACTACTTTTTCCCCCTAGAGTCACTTATTGGATGCGATACTCAGAGATCACTTAATACATGGCTTAGGGTATGAGTTGAGAAATCTCAGGTGGGGCTATTCTTAGGCACTCAGTTTCTCTTTTGGAGCTTGTCACGGCTGCCTTTTCTCACGATCTGCCAGCAGTCTGGGTCTCATTCCGTCCAAGTCTCCTGTAGAGGCTGTCTCAAAGGTCACCAGTCACTAACTAGCAAATCCAGGGACCTTTTCTCAGCTCTCCTCCCTAACTCTGCTGCTGAAACAGATACTGCTGTCCACCCTCCTACCATTCTCTCTTTTGTCGATTGCTGTGATGTGTCACTATCCTGGTTCGCCTCTCCTCTGTCCCTTCCTGCTCCCCCTACACTGATTCTCAGGCCTCAGCTGTCTGTTCTTCCTACACCCTGAGCAAGAGCCAATCTCCTCCCAGTTTGCAGTGTCCCTTCTGTGTTGATGACTCAGACATCCCTATGCTCAGCTCTGCTCTGGCCCTCTCTGGAGCTCTAGTCAAACGTCTTAAACCCCCTAATGGGCATTTCATCTTAACAGATACTCATGATCTCAACACATCTAAAATTGAACATTCATTATTTACAGCTAAGTCCCACCCATTCAAGTTAGTGGAGTAGAATCAGGGGAGGAGGAATGGAGCCACGGTCTAGGGTAAGGTTATGGCCATCTCCGGCTTCAGCCTTAACCTTTTTTATTCTCCTCTTTCTCTACCAGGTGTGCCTGACCCTGACAGCCAAGCGCATGGCACGGAAGAACTGCCTGGTGAAGAACCTGGAGGCGGTGGAGACGCTGGTCTCCACGTCCACCATCTGCTCGGACAAGACGGGCACCCTCACCCAGAACCGCATGACCGTCGCCCACATGTGGTTCGACAACCAAATCCATGAGGCTGACACCACCGAAGATCAGTCTGGTGATTGGGTGCTCCAGAGGGGGTGGATAGGATTAGAGGAGGCTGAGGGCAGTGGCGTGGTGGGGTGAGTGGTTGAGATAAAGGCTCTAAAGGGAGCCACGCTCCTGGTTCCCCCTCATTTCCTCCCAGGGGCCACTTTTGACAAACGATCCCCTACGTGGACGGCCCTGTCTCGAATTGCTGGTCTCTGCAACCGCGCCGTCTTCAAGGCAGGACAGGAGAACATCTCCGTGTCTAAGGTAGGGGGTCAGGACACACACCAGGTATGTTTTGGGGGTGTCTCCAAAGCCTCTTGCTGGCCCCAGCTTTCCTTCTCACATGATGTGGCTGCCTTGGGGGTTTCAGTGCCGCCTTCACCTGATCCTCCACTCCCTTCCCTCCCATGCTGACACTGAATTCTTGTCTCTTCTGGCAGCGGGACACAGCTGGTGATGCCTCTGAGTCAGCTCTGCTCAAGTGCATTGAGCTCTCCTGTGGCTCAGTGAGGAAAATGAGAGACAGAAACCCCAAGGTGGCAGAGATTCCTTTCAACTCTACCAACAAGTACCAGGTCTGCTTGGGTTGCCAGGACAGAGGAAGAGAGAGGGATATAAATGGGTGAGGGTGGACAAAGCCAAGGGGAATCATCACTAGCAGGAGTGGGGGTGTCTGAGGGTCATGTTCCCTCCCCCTGCTAAGTCCCCCAGGACAGCTCATATGACTGCATGTCTGATTGCAACTAGCCCCAGCTCCCAAACCTTACTCCATCCCTTACTACAATCTGTCACTCTCTCAACTCTTCTTCCCATAGCTCCGCATCCTCTGGCCTAGCCTTCCAACTCTTCTACCCCAGTCAGTGAAACCATAATTCTGTAATTCCTTTATGGTGCCCCTTAGCCTTTAGGCACCTGTTAAATGCCAAGAATGCAATCTCAGCATTCCTTATTATCCATAGAGGTAAAGCCCCCTGAGGCCAGGTGGTGGTGGGGATGCTGAGGAGGGAGCCGTTCAGCCCCTAGCACAGTGCCTGTCTTAACCTGACCTCAATAAATATTTGTTGAATGAAAGACTGTCCTACGGAGGTGGCTCTCAGGTTACAAGTGTTGGAACTGTGAGGTCTAAACACCCCCCTGCACAAGGAGATTCTCTTTGTTGACAATCTTTGATGGGTTGGGGCTACTTTTCTAAGGTGGTTTCCTTACCAGCTGCTGCTCTATGCCGCGCTACCAAGACAAGTATGGCCCTCTCTGTAACTACCTGTTGTCTCTCCAGCTGTCTATCCACGAGCGAGAAGACAGCCCCCAGAGCCACGTGCTGGTGATGAAGGGGGCCCCAGAGCGCATTCTGGACCGGTGCTCCACCATCCTGGTGCAGGGCAAGGAGATCCCGCTCGACAAGGAGATGCAAGATGCCTTTCAAAATGCCTACATGGAGCTGGGGGGACTTGGGGAGCGTGTGCTGGGTGAGAGGCCAGAAACAGGAGGCTCAGAAGGGGATTCCCAAGCCTCTGCGGCATCCCTGGGGTGGGGGACTGTGGGGGCGTCCAGGAAGCCACTCTGCGGATCTCACTGATCCCTTCTGCCCCCCTTTAGGATTCTGTCAACTGAATCTGCCATCTGGAAAGTTTCCTCGGGGCTTCAAATTCGACACGGATGAGCTGAACTTTCCCACGGAGAAGCTTTGCTTTGTGGGGCTCATGTCTATGATTGACCCTCCCCGGGCTGCTGTGCCAGATGCTGTGGGCAAGTGCCGAAGCGCAGGCATCAAGGTACTGGCCTCCCATCCTCCCCTCCATTCTAGCCTCCCCCATGCCAGAGTTCAAGGAGCTGCAGTGGCTGCTGCCCTGGAAAGGCCCAGGCCACGGTGGCCTCCTTCCCACTGACTCAGAGAAGAAGCTGTCCATCTGCAAGGAAAGGCCCACCCCTGCCTTGGGGCACTCACCCTTATCC
Task1_train_1938
Here is a genetic alteration in ATP1A2 (ATPase Na+/K+ transporting subunit alpha 2) on Chromosome 1. Based on the data, is it a benign variant or a cause of disease?
Pathogenic; Familial hemiplegic migraine
CTGCCTCAGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCGAGCCTGGCCAAATTTCCTAAATTTTTAATGTACTGAGATTTTGAAATTTACATTTCCCACAATTGATTTATTCAGAAATGCCTAGTAATACATTCCTATTGCTTACTCTGCAATTGGCTTTGAAAAGAGGAAAGGAAATAAATGAGATATTTGTTGAGCACCCGCTATGTTCCAGGCACTGGCCTAAGTATATTAAAGCACAATCTCATCTAAATATTAAAACAGCACCGAGATAGGAATTCAAATAAGGATTCAAACCCAAATTTGGCTGGCTCCAATGTGCATGCTTTTTTCAATACACCACCCTTCCTTCCCAGAAGACCCCTGTAATGTCACACAAGGGTTAGCAATTGCCTGGCTTCCTCTATAGAGATTCATGCCTAATGTTGAGAAAGAAAATCTTAAGACTGGATGGAAAATCCATAATGAGTGCTTTACTTTGTGTTCATAATATACTTTTGGATGGTATCAAGTATGGGAATGATTTTACCAAAATGCCACAGGCAATTTTTATTTATTGAATCTTGTCTATTTGAACTTTGAGATTATTTGCAAGCTTCTCCCCAGGCTCGAGTACAAGAGAAAATAATTTGCTGTTGTATTGATTCAAGGATTGGCGATCTATCCAGGGAAAGGAAGGCCAAGTGGGGACAACCTACTGAATGTGGCCTCCAGATCTGCGGCTTTGGCTCACCTATCCTGTGATGATTTTCCTTGCTCAGGAAATAGGATGGGACTGCAGTCCCTGGGAGCCACAAGGCACCCAACCTGATGCCCCACCATGTTGCAGGCACTGCCAGGGGCATTGTGATTGCCACAGGAGACCGGACGGTGATGGGCCGCATAGCTACTCTCGCCTCAGGCCTGGAGGTTGGGCGGACACCCATAGCAATGGAGATTGAACACTTCATCCAGCTGATCACAGGGGTCGCTGTATTCCTGGGGGTCTCCTTCTTCGTGCTCTCCCTCATCCTGGGCTACAGCTGGCTGGAGGCAGTCATCTTCCTCATCGGCATCATAGTGGCCAACGTGCCTGAGGGGCTTCTGGCCACTGTCACTGTGAGTGGGTCAGGCTGAGGTGCCACCAGGGGAGGGTCTCACTACTCTTTCCTCAGAGTGATAGAGGCACAGTTGCTTGTAGCTTCTCACTACTTTTTCCCCCTAGAGTCACTTATTGGATGCGATACTCAGAGATCACTTAATACATGGCTTAGGGTATGAGTTGAGAAATCTCAGGTGGGGCTATTCTTAGGCACTCAGTTTCTCTTTTGGAGCTTGTCACGGCTGCCTTTTCTCACGATCTGCCAGCAGTCTGGGTCTCATTCCGTCCAAGTCTCCTGTAGAGGCTGTCTCAAAGGTCACCAGTCACTAACTAGCAAATCCAGGGACCTTTTCTCAGCTCTCCTCCCTAACTCTGCTGCTGAAACAGATACTGCTGTCCACCCTCCTACCATTCTCTCTTTTGTCGATTGCTGTGATGTGTCACTATCCTGGTTCGCCTCTCCTCTGTCCCTTCCTGCTCCCCCTACACTGATTCTCAGGCCTCAGCTGTCTGTTCTTCCTACACCCTGAGCAAGAGCCAATCTCCTCCCAGTTTGCAGTGTCCCTTCTGTGTTGATGACTCAGACATCCCTATGCTCAGCTCTGCTCTGGCCCTCTCTGGAGCTCTAGTCAAACGTCTTAAACCCCCTAATGGGCATTTCATCTTAACAGATACTCATGATCTCAACACATCTAAAATTGAACATTCATTATTTACAGCTAAGTCCCACCCATTCAAGTTAGTGGAGTAGAATCAGGGGAGGAGGAATGGAGCCACGGTCTAGGGTAAGGTTATGGCCATCTCCGGCTTCAGCCTTAACCTTTTTTATTCTCCTCTTTCTCTACCAGGTGTGCCTGACCCTGACAGCCAAGCGCATGGCACGGAAGAACTGCCTGGTGAAGAACCTGGAGGCGGTGGAGACGCTGGGCTCCACGTCCACCATCTGCTCGGACAAGACGGGCACCCTCACCCAGAACCGCATGACCGTCGCCCACATGTGGTTCGACAACCAAATCCATGAGGCTGACACCACCGAAGATCAGTCTGGTGATTGGGTGCTCCAGAGGGGGTGGATAGGATTAGAGGAGGCTGAGGGCAGTGGCGTGGTGGGGTGAGTGGTTGAGATAAAGGCTCTAAAGGGAGCCACGCTCCTGGTTCCCCCTCATTTCCTCCCAGGGGCCACTTTTGACAAACGATCCCCTACGTGGACGGCCCTGTCTCGAATTGCTGGTCTCTGCAACCGCGCCGTCTTCAAGGCAGGACAGGAGAACATCTCCGTGTCTAAGGTAGGGGGTCAGGACACACACCAGGTATGTTTTGGGGGTGTCTCCAAAGCCTCTTGCTGGCCCCAGCTTTCCTTCTCACATGATGTGGCTGCCTTGGGGGTTTCAGTGCCGCCTTCACCTGATCCTCCACTCCCTTCCCTCCCATGCTGACACTGAATTCTTGTCTCTTCTGGCAGCGGGACACAGCTGGTGATGCCTCTGAGTCAGCTCTGCTCAAGTGCATTGAGCTCTCCTGTGGCTCAGTGAGGAAAATGAGAGACAGAAACCCCAAGGTGGCAGAGATTCCTTTCAACTCTACCAACAAGTACCAGGTCTGCTTGGGTTGCCAGGACAGAGGAAGAGAGAGGGATATAAATGGGTGAGGGTGGACAAAGCCAAGGGGAATCATCACTAGCAGGAGTGGGGGTGTCTGAGGGTCATGTTCCCTCCCCCTGCTAAGTCCCCCAGGACAGCTCATATGACTGCATGTCTGATTGCAACTAGCCCCAGCTCCCAAACCTTACTCCATCCCTTACTACAATCTGTCACTCTCTCAACTCTTCTTCCCATAGCTCCGCATCCTCTGGCCTAGCCTTCCAACTCTTCTACCCCAGTCAGTGAAACCATAATTCTGTAATTCCTTTATGGTGCCCCTTAGCCTTTAGGCACCTGTTAAATGCCAAGAATGCAATCTCAGCATTCCTTATTATCCATAGAGGTAAAGCCCCCTGAGGCCAGGTGGTGGTGGGGATGCTGAGGAGGGAGCCGTTCAGCCCCTAGCACAGTGCCTGTCTTAACCTGACCTCAATAAATATTTGTTGAATGAAAGACTGTCCTACGGAGGTGGCTCTCAGGTTACAAGTGTTGGAACTGTGAGGTCTAAACACCCCCCTGCACAAGGAGATTCTCTTTGTTGACAATCTTTGATGGGTTGGGGCTACTTTTCTAAGGTGGTTTCCTTACCAGCTGCTGCTCTATGCCGCGCTACCAAGACAAGTATGGCCCTCTCTGTAACTACCTGTTGTCTCTCCAGCTGTCTATCCACGAGCGAGAAGACAGCCCCCAGAGCCACGTGCTGGTGATGAAGGGGGCCCCAGAGCGCATTCTGGACCGGTGCTCCACCATCCTGGTGCAGGGCAAGGAGATCCCGCTCGACAAGGAGATGCAAGATGCCTTTCAAAATGCCTACATGGAGCTGGGGGGACTTGGGGAGCGTGTGCTGGGTGAGAGGCCAGAAACAGGAGGCTCAGAAGGGGATTCCCAAGCCTCTGCGGCATCCCTGGGGTGGGGGACTGTGGGGGCGTCCAGGAAGCCACTCTGCGGATCTCACTGATCCCTTCTGCCCCCCTTTAGGATTCTGTCAACTGAATCTGCCATCTGGAAAGTTTCCTCGGGGCTTCAAATTCGACACGGATGAGCTGAACTTTCCCACGGAGAAGCTTTGCTTTGTGGGGCTCATGTCTATGATTGACCCTCCCCGGGCTGCTGTGCCAGATGCTGTGGGCAAGTGCCGAAGCGCAGGCATCAAGGTACTGGCCTCCCATCCTCCCCTCCATTCTAGCCTCCCCCATGCCAGAGTTCAAGGAGCTGCAGTGGCTGCTGCCCTGGAAAGGCCCAGGCCACGGTGGCCTCCTTCCCACTGACTCAGAGAAGAAGCTGTCCATCTGCAAGGAAAGGCCCACCCCTGCCTTGGGGCACTCACCCTTATCCCTTTTGCTCAGAGAGGCCAGTGTCCCATGCCCC
CTGCCTCAGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCGAGCCTGGCCAAATTTCCTAAATTTTTAATGTACTGAGATTTTGAAATTTACATTTCCCACAATTGATTTATTCAGAAATGCCTAGTAATACATTCCTATTGCTTACTCTGCAATTGGCTTTGAAAAGAGGAAAGGAAATAAATGAGATATTTGTTGAGCACCCGCTATGTTCCAGGCACTGGCCTAAGTATATTAAAGCACAATCTCATCTAAATATTAAAACAGCACCGAGATAGGAATTCAAATAAGGATTCAAACCCAAATTTGGCTGGCTCCAATGTGCATGCTTTTTTCAATACACCACCCTTCCTTCCCAGAAGACCCCTGTAATGTCACACAAGGGTTAGCAATTGCCTGGCTTCCTCTATAGAGATTCATGCCTAATGTTGAGAAAGAAAATCTTAAGACTGGATGGAAAATCCATAATGAGTGCTTTACTTTGTGTTCATAATATACTTTTGGATGGTATCAAGTATGGGAATGATTTTACCAAAATGCCACAGGCAATTTTTATTTATTGAATCTTGTCTATTTGAACTTTGAGATTATTTGCAAGCTTCTCCCCAGGCTCGAGTACAAGAGAAAATAATTTGCTGTTGTATTGATTCAAGGATTGGCGATCTATCCAGGGAAAGGAAGGCCAAGTGGGGACAACCTACTGAATGTGGCCTCCAGATCTGCGGCTTTGGCTCACCTATCCTGTGATGATTTTCCTTGCTCAGGAAATAGGATGGGACTGCAGTCCCTGGGAGCCACAAGGCACCCAACCTGATGCCCCACCATGTTGCAGGCACTGCCAGGGGCATTGTGATTGCCACAGGAGACCGGACGGTGATGGGCCGCATAGCTACTCTCGCCTCAGGCCTGGAGGTTGGGCGGACACCCATAGCAATGGAGATTGAACACTTCATCCAGCTGATCACAGGGGTCGCTGTATTCCTGGGGGTCTCCTTCTTCGTGCTCTCCCTCATCCTGGGCTACAGCTGGCTGGAGGCAGTCATCTTCCTCATCGGCATCATAGTGGCCAACGTGCCTGAGGGGCTTCTGGCCACTGTCACTGTGAGTGGGTCAGGCTGAGGTGCCACCAGGGGAGGGTCTCACTACTCTTTCCTCAGAGTGATAGAGGCACAGTTGCTTGTAGCTTCTCACTACTTTTTCCCCCTAGAGTCACTTATTGGATGCGATACTCAGAGATCACTTAATACATGGCTTAGGGTATGAGTTGAGAAATCTCAGGTGGGGCTATTCTTAGGCACTCAGTTTCTCTTTTGGAGCTTGTCACGGCTGCCTTTTCTCACGATCTGCCAGCAGTCTGGGTCTCATTCCGTCCAAGTCTCCTGTAGAGGCTGTCTCAAAGGTCACCAGTCACTAACTAGCAAATCCAGGGACCTTTTCTCAGCTCTCCTCCCTAACTCTGCTGCTGAAACAGATACTGCTGTCCACCCTCCTACCATTCTCTCTTTTGTCGATTGCTGTGATGTGTCACTATCCTGGTTCGCCTCTCCTCTGTCCCTTCCTGCTCCCCCTACACTGATTCTCAGGCCTCAGCTGTCTGTTCTTCCTACACCCTGAGCAAGAGCCAATCTCCTCCCAGTTTGCAGTGTCCCTTCTGTGTTGATGACTCAGACATCCCTATGCTCAGCTCTGCTCTGGCCCTCTCTGGAGCTCTAGTCAAACGTCTTAAACCCCCTAATGGGCATTTCATCTTAACAGATACTCATGATCTCAACACATCTAAAATTGAACATTCATTATTTACAGCTAAGTCCCACCCATTCAAGTTAGTGGAGTAGAATCAGGGGAGGAGGAATGGAGCCACGGTCTAGGGTAAGGTTATGGCCATCTCCGGCTTCAGCCTTAACCTTTTTTATTCTCCTCTTTCTCTACCAGGTGTGCCTGACCCTGACAGCCAAGCGCATGGCACGGAAGAACTGCCTGGTGAAGAACCTGGAGGCGGTGGAGACGCTGGGCTCCACGTCCACCATCTGCTCGGACAAGACGGTCACCCTCACCCAGAACCGCATGACCGTCGCCCACATGTGGTTCGACAACCAAATCCATGAGGCTGACACCACCGAAGATCAGTCTGGTGATTGGGTGCTCCAGAGGGGGTGGATAGGATTAGAGGAGGCTGAGGGCAGTGGCGTGGTGGGGTGAGTGGTTGAGATAAAGGCTCTAAAGGGAGCCACGCTCCTGGTTCCCCCTCATTTCCTCCCAGGGGCCACTTTTGACAAACGATCCCCTACGTGGACGGCCCTGTCTCGAATTGCTGGTCTCTGCAACCGCGCCGTCTTCAAGGCAGGACAGGAGAACATCTCCGTGTCTAAGGTAGGGGGTCAGGACACACACCAGGTATGTTTTGGGGGTGTCTCCAAAGCCTCTTGCTGGCCCCAGCTTTCCTTCTCACATGATGTGGCTGCCTTGGGGGTTTCAGTGCCGCCTTCACCTGATCCTCCACTCCCTTCCCTCCCATGCTGACACTGAATTCTTGTCTCTTCTGGCAGCGGGACACAGCTGGTGATGCCTCTGAGTCAGCTCTGCTCAAGTGCATTGAGCTCTCCTGTGGCTCAGTGAGGAAAATGAGAGACAGAAACCCCAAGGTGGCAGAGATTCCTTTCAACTCTACCAACAAGTACCAGGTCTGCTTGGGTTGCCAGGACAGAGGAAGAGAGAGGGATATAAATGGGTGAGGGTGGACAAAGCCAAGGGGAATCATCACTAGCAGGAGTGGGGGTGTCTGAGGGTCATGTTCCCTCCCCCTGCTAAGTCCCCCAGGACAGCTCATATGACTGCATGTCTGATTGCAACTAGCCCCAGCTCCCAAACCTTACTCCATCCCTTACTACAATCTGTCACTCTCTCAACTCTTCTTCCCATAGCTCCGCATCCTCTGGCCTAGCCTTCCAACTCTTCTACCCCAGTCAGTGAAACCATAATTCTGTAATTCCTTTATGGTGCCCCTTAGCCTTTAGGCACCTGTTAAATGCCAAGAATGCAATCTCAGCATTCCTTATTATCCATAGAGGTAAAGCCCCCTGAGGCCAGGTGGTGGTGGGGATGCTGAGGAGGGAGCCGTTCAGCCCCTAGCACAGTGCCTGTCTTAACCTGACCTCAATAAATATTTGTTGAATGAAAGACTGTCCTACGGAGGTGGCTCTCAGGTTACAAGTGTTGGAACTGTGAGGTCTAAACACCCCCCTGCACAAGGAGATTCTCTTTGTTGACAATCTTTGATGGGTTGGGGCTACTTTTCTAAGGTGGTTTCCTTACCAGCTGCTGCTCTATGCCGCGCTACCAAGACAAGTATGGCCCTCTCTGTAACTACCTGTTGTCTCTCCAGCTGTCTATCCACGAGCGAGAAGACAGCCCCCAGAGCCACGTGCTGGTGATGAAGGGGGCCCCAGAGCGCATTCTGGACCGGTGCTCCACCATCCTGGTGCAGGGCAAGGAGATCCCGCTCGACAAGGAGATGCAAGATGCCTTTCAAAATGCCTACATGGAGCTGGGGGGACTTGGGGAGCGTGTGCTGGGTGAGAGGCCAGAAACAGGAGGCTCAGAAGGGGATTCCCAAGCCTCTGCGGCATCCCTGGGGTGGGGGACTGTGGGGGCGTCCAGGAAGCCACTCTGCGGATCTCACTGATCCCTTCTGCCCCCCTTTAGGATTCTGTCAACTGAATCTGCCATCTGGAAAGTTTCCTCGGGGCTTCAAATTCGACACGGATGAGCTGAACTTTCCCACGGAGAAGCTTTGCTTTGTGGGGCTCATGTCTATGATTGACCCTCCCCGGGCTGCTGTGCCAGATGCTGTGGGCAAGTGCCGAAGCGCAGGCATCAAGGTACTGGCCTCCCATCCTCCCCTCCATTCTAGCCTCCCCCATGCCAGAGTTCAAGGAGCTGCAGTGGCTGCTGCCCTGGAAAGGCCCAGGCCACGGTGGCCTCCTTCCCACTGACTCAGAGAAGAAGCTGTCCATCTGCAAGGAAAGGCCCACCCCTGCCTTGGGGCACTCACCCTTATCCCTTTTGCTCAGAGAGGCCAGTGTCCCATGCCCC
Task1_train_1939
A variant was discovered in gene ATP1A2 (ATPase Na+/K+ transporting subunit alpha 2), Chromosome 1. Please indicate if this mutation results in a known disease or if it's non-harmful.
Pathogenic; Familial hemiplegic migraine
CTGTGATGTGTCACTATCCTGGTTCGCCTCTCCTCTGTCCCTTCCTGCTCCCCCTACACTGATTCTCAGGCCTCAGCTGTCTGTTCTTCCTACACCCTGAGCAAGAGCCAATCTCCTCCCAGTTTGCAGTGTCCCTTCTGTGTTGATGACTCAGACATCCCTATGCTCAGCTCTGCTCTGGCCCTCTCTGGAGCTCTAGTCAAACGTCTTAAACCCCCTAATGGGCATTTCATCTTAACAGATACTCATGATCTCAACACATCTAAAATTGAACATTCATTATTTACAGCTAAGTCCCACCCATTCAAGTTAGTGGAGTAGAATCAGGGGAGGAGGAATGGAGCCACGGTCTAGGGTAAGGTTATGGCCATCTCCGGCTTCAGCCTTAACCTTTTTTATTCTCCTCTTTCTCTACCAGGTGTGCCTGACCCTGACAGCCAAGCGCATGGCACGGAAGAACTGCCTGGTGAAGAACCTGGAGGCGGTGGAGACGCTGGGCTCCACGTCCACCATCTGCTCGGACAAGACGGGCACCCTCACCCAGAACCGCATGACCGTCGCCCACATGTGGTTCGACAACCAAATCCATGAGGCTGACACCACCGAAGATCAGTCTGGTGATTGGGTGCTCCAGAGGGGGTGGATAGGATTAGAGGAGGCTGAGGGCAGTGGCGTGGTGGGGTGAGTGGTTGAGATAAAGGCTCTAAAGGGAGCCACGCTCCTGGTTCCCCCTCATTTCCTCCCAGGGGCCACTTTTGACAAACGATCCCCTACGTGGACGGCCCTGTCTCGAATTGCTGGTCTCTGCAACCGCGCCGTCTTCAAGGCAGGACAGGAGAACATCTCCGTGTCTAAGGTAGGGGGTCAGGACACACACCAGGTATGTTTTGGGGGTGTCTCCAAAGCCTCTTGCTGGCCCCAGCTTTCCTTCTCACATGATGTGGCTGCCTTGGGGGTTTCAGTGCCGCCTTCACCTGATCCTCCACTCCCTTCCCTCCCATGCTGACACTGAATTCTTGTCTCTTCTGGCAGCGGGACACAGCTGGTGATGCCTCTGAGTCAGCTCTGCTCAAGTGCATTGAGCTCTCCTGTGGCTCAGTGAGGAAAATGAGAGACAGAAACCCCAAGGTGGCAGAGATTCCTTTCAACTCTACCAACAAGTACCAGGTCTGCTTGGGTTGCCAGGACAGAGGAAGAGAGAGGGATATAAATGGGTGAGGGTGGACAAAGCCAAGGGGAATCATCACTAGCAGGAGTGGGGGTGTCTGAGGGTCATGTTCCCTCCCCCTGCTAAGTCCCCCAGGACAGCTCATATGACTGCATGTCTGATTGCAACTAGCCCCAGCTCCCAAACCTTACTCCATCCCTTACTACAATCTGTCACTCTCTCAACTCTTCTTCCCATAGCTCCGCATCCTCTGGCCTAGCCTTCCAACTCTTCTACCCCAGTCAGTGAAACCATAATTCTGTAATTCCTTTATGGTGCCCCTTAGCCTTTAGGCACCTGTTAAATGCCAAGAATGCAATCTCAGCATTCCTTATTATCCATAGAGGTAAAGCCCCCTGAGGCCAGGTGGTGGTGGGGATGCTGAGGAGGGAGCCGTTCAGCCCCTAGCACAGTGCCTGTCTTAACCTGACCTCAATAAATATTTGTTGAATGAAAGACTGTCCTACGGAGGTGGCTCTCAGGTTACAAGTGTTGGAACTGTGAGGTCTAAACACCCCCCTGCACAAGGAGATTCTCTTTGTTGACAATCTTTGATGGGTTGGGGCTACTTTTCTAAGGTGGTTTCCTTACCAGCTGCTGCTCTATGCCGCGCTACCAAGACAAGTATGGCCCTCTCTGTAACTACCTGTTGTCTCTCCAGCTGTCTATCCACGAGCGAGAAGACAGCCCCCAGAGCCACGTGCTGGTGATGAAGGGGGCCCCAGAGCGCATTCTGGACCGGTGCTCCACCATCCTGGTGCAGGGCAAGGAGATCCCGCTCGACAAGGAGATGCAAGATGCCTTTCAAAATGCCTACATGGAGCTGGGGGGACTTGGGGAGCGTGTGCTGGGTGAGAGGCCAGAAACAGGAGGCTCAGAAGGGGATTCCCAAGCCTCTGCGGCATCCCTGGGGTGGGGGACTGTGGGGGCGTCCAGGAAGCCACTCTGCGGATCTCACTGATCCCTTCTGCCCCCCTTTAGGATTCTGTCAACTGAATCTGCCATCTGGAAAGTTTCCTCGGGGCTTCAAATTCGACACGGATGAGCTGAACTTTCCCACGGAGAAGCTTTGCTTTGTGGGGCTCATGTCTATGATTGACCCTCCCCGGGCTGCTGTGCCAGATGCTGTGGGCAAGTGCCGAAGCGCAGGCATCAAGGTACTGGCCTCCCATCCTCCCCTCCATTCTAGCCTCCCCCATGCCAGAGTTCAAGGAGCTGCAGTGGCTGCTGCCCTGGAAAGGCCCAGGCCACGGTGGCCTCCTTCCCACTGACTCAGAGAAGAAGCTGTCCATCTGCAAGGAAAGGCCCACCCCTGCCTTGGGGCACTCACCCTTATCCCTTTTGCTCAGAGAGGCCAGTGTCCCATGCCCCTCCTCTCCCTCCCTGGCACAGCTCTTTGTCCCATCTGCATGTGTACCCTTCCATTCTGATTTGAAGCATAATCTGGCACTCCTATCTTGAAGACCTAGTTGTCCTACCCTTCCCAACTACTGCCCACCCTCTCTGTCAACTTAGGATGGGATTAGCAGGCTCTTGTATGCTCCCAGTGGCTCAGCCCATAACCCCACAGAATGCCTCCCACTCAAGGTTCTCTTGTTCAACTACAATTGCTTCTCACTGACCACTCCCTCCTCTGTGCTATGTTTGTTCTTCATTCAACAAATATTTACTGTTTACTATGTTTCAGACACTGTGCAAGGTGCAAACTCTAGCACCTTGCACAGTGCCTGATACATAGTAAACAATTTGTGTCACATGACACATCTAGATGGGACAATGAGCTGTGCCAGGGAGGACACATATAAATCAGGCACTATTCTAAGCACTAAACCTCTATGATTTCATTTAATCTACGCAACAACCCTGTGAATAAGCACCAGTATTTTTCCTTTTTTACAAAGAGGGAAACTGAGGCACAAAGTAACATGCCAAGGCCACACAGCTAGTGTAAGTCATAGAGCAGGTACTTGAACCAAGGCAGTCTGCTATTTCTTAACTATCATACCAGGAGACTTGTTTCTGTGGGTGTATGTGGTTTCTGAACCCCATAACCACTCTGTCTCCGAGGCAGGCATCATTATCCCTGTTAAAAGTAAAACAAGGCTGGGCACAGTGGCTCATGCCTGTAATCCCAGCACTTTGGGGGGGTCCAAGGCTGGTGGATCACCTGAGATAAGGAGTCCAAGACCAGCCTGGCCAACATGGTGAAACCCCGTCTCTACTGAAAAAAAAATACAAAAATTAGCCACGTGTAGTGGCAGGTGCCTGTAATCCCAGCTCCTTGGGAGGCTGAGGCAGGAGAATCACTTGAACCCGGGAGGCAGAGGTTGCAGTGAGCCGAGATTAGGCCACTGCACTCCAGCCTAGGCGACAAGAGCAAGACTCCATCTCAAAAAAAAAAAAAAAGTAAAACAAATGGAAACTGCAAGTGGGTAAGTCTTTTCCCCAAAATAAAACCACCAGTAAGTGATGGACTGGGACTATGAAGCATGATCTGCTTGACCGGAAAGCCTGAGCTCCTGCTGCTTGGCCAGGTGCCTCTCTCTGTGATCAGAACCATCACGGAGGCCTGGGCAGAGGACCTCTATGGGAAGTCAGCTCAGGGAAGCATTAATTCTGCCTCAGAGAACTGGACGATGTTTGACAAAAGGAATGATATTTGAGCTGGGCTTTGGAGGTCAAAGAGTATTCTGCAAAGCAGTGAGGGAGAGGAAGGCATGTCAAGATCAGGGAACAGTGTGTACCCTGGCGTGGCTAGACTGTACGGAGCGTGTGTAGGGGTTGGCAGGGGAGAGGTGGCAAGGAGTACTGGGGGTTGAGACTGGAACACTGGGTCAGAGCCAGTTGGAAGGACTTGGCTTAAATGCCAGACTTGGGCTTTATCCTGCA
CTGTGATGTGTCACTATCCTGGTTCGCCTCTCCTCTGTCCCTTCCTGCTCCCCCTACACTGATTCTCAGGCCTCAGCTGTCTGTTCTTCCTACACCCTGAGCAAGAGCCAATCTCCTCCCAGTTTGCAGTGTCCCTTCTGTGTTGATGACTCAGACATCCCTATGCTCAGCTCTGCTCTGGCCCTCTCTGGAGCTCTAGTCAAACGTCTTAAACCCCCTAATGGGCATTTCATCTTAACAGATACTCATGATCTCAACACATCTAAAATTGAACATTCATTATTTACAGCTAAGTCCCACCCATTCAAGTTAGTGGAGTAGAATCAGGGGAGGAGGAATGGAGCCACGGTCTAGGGTAAGGTTATGGCCATCTCCGGCTTCAGCCTTAACCTTTTTTATTCTCCTCTTTCTCTACCAGGTGTGCCTGACCCTGACAGCCAAGCGCATGGCACGGAAGAACTGCCTGGTGAAGAACCTGGAGGCGGTGGAGACGCTGGGCTCCACGTCCACCATCTGCTCGGACAAGACGGGCACCCTCACCCAGAACCGCATGACCGTCGCCCACATGTGGTTCGACAACCAAATCCATGAGGCTGACACCACCGAAGATCAGTCTGGTGATTGGGTGCTCCAGAGGGGGTGGATAGGATTAGAGGAGGCTGAGGGCAGTGGCGTGGTGGGGTGAGTGGTTGAGATAAAGGCTCTAAAGGGAGCCACGCTCCTGGTTCCCCCTCATTTCCTCCCAGGGGCCACTTTTGACAAACGATCCCCTACGTGGACGGCCCTGTCTCGAATTGCTGGTCTCTGCAACCGCGCCGTCTTCAAGGCAGGACAGGAGAACATCTCCGTGTCTAAGGTAGGGGGTCAGGACACACACCAGGTATGTTTTGGGGGTGTCTCCAAAGCCTCTTGCTGGCCCCAGCTTTCCTTCTCACATGATGTGGCTGCCTTGGGGGTTTCAGTGCCGCCTTCACCTGATCCTCCACTCCCTTCCCTCCCATGCTGACACTGAATTCTTGTCTCTTCTGGCAGCGGGACACAGCTGGTGATGCCTCTGAGTCAGCTCTGCTCAAGTGCATTGAGCTCTCCTGTGGCTCAGTGAGGAAAATGAGAGACAGAAACCCCAAGGTGGCAGAGATTCCTTTCAACTCTACCAACAAGTACCAGGTCTGCTTGGGTTGCCAGGACAGAGGAAGAGAGAGGGATATAAATGGGTGAGGGTGGACAAAGCCAAGGGGAATCATCACTAGCAGGAGTGGGGGTGTCTGAGGGTCATGTTCCCTCCCCCTGCTAAGTCCCCCAGGACAGCTCATATGACTGCATGTCTGATTGCAACTAGCCCCAGCTCCCAAACCTTACTCCATCCCTTACTACAATCTGTCACTCTCTCAACTCTTCTTCCCATAGCTCCGCATCCTCTGGCCTAGCCTTCCAACTCTTCTACCCCAGTCAGTGAAACCATAATTCTGTAATTCCTTTATGGTGCCCCTTAGCCTTTAGGCACCTGTTAAATGCCAAGAATGCAATCTCAGCATTCCTTATTATCCATAGAGGTAAAGCCCCCTGAGGCCAGGTGGTGGTGGGGATGCTGAGGAGGGAGCCGTTCAGCCCCTAGCACAGTGCCTGTCTTAACCTGACCTCAATAAATATTTGTTGAATGAAAGACTGTCCTACGGAGGTGGCTCTCAGGTTACAAGTGTTGGAACTGTGAGGTCTAAACACCCCCCTGCACAAGGAGATTCTCTTTGTTGACAATCTTTGATGGGTTGGGGCTACTTTTCTAAGGTGGTTTCCTTACCAGCTGCTGCTCTATGCCGCGCTACCAAGACAAGTATGGCCCTCTCTGTAACTACCTGTTGTCTCTCCAGCTGTCTATCCACGAGCGAGAAGACAGCCCCCAGAGCCACGTGCTGGTGATGAAGGGGGCCCCAGAGCGCATTCTGGACCGGTGCTCCACCATCCTGGTGCAGGGCAAGGAGATCCCGCTCGACAAGGAGATGCAAGATGCCTTTCAAAATGCCTACATGGAGCTGGGGGGACTTGGGGAGTGTGTGCTGGGTGAGAGGCCAGAAACAGGAGGCTCAGAAGGGGATTCCCAAGCCTCTGCGGCATCCCTGGGGTGGGGGACTGTGGGGGCGTCCAGGAAGCCACTCTGCGGATCTCACTGATCCCTTCTGCCCCCCTTTAGGATTCTGTCAACTGAATCTGCCATCTGGAAAGTTTCCTCGGGGCTTCAAATTCGACACGGATGAGCTGAACTTTCCCACGGAGAAGCTTTGCTTTGTGGGGCTCATGTCTATGATTGACCCTCCCCGGGCTGCTGTGCCAGATGCTGTGGGCAAGTGCCGAAGCGCAGGCATCAAGGTACTGGCCTCCCATCCTCCCCTCCATTCTAGCCTCCCCCATGCCAGAGTTCAAGGAGCTGCAGTGGCTGCTGCCCTGGAAAGGCCCAGGCCACGGTGGCCTCCTTCCCACTGACTCAGAGAAGAAGCTGTCCATCTGCAAGGAAAGGCCCACCCCTGCCTTGGGGCACTCACCCTTATCCCTTTTGCTCAGAGAGGCCAGTGTCCCATGCCCCTCCTCTCCCTCCCTGGCACAGCTCTTTGTCCCATCTGCATGTGTACCCTTCCATTCTGATTTGAAGCATAATCTGGCACTCCTATCTTGAAGACCTAGTTGTCCTACCCTTCCCAACTACTGCCCACCCTCTCTGTCAACTTAGGATGGGATTAGCAGGCTCTTGTATGCTCCCAGTGGCTCAGCCCATAACCCCACAGAATGCCTCCCACTCAAGGTTCTCTTGTTCAACTACAATTGCTTCTCACTGACCACTCCCTCCTCTGTGCTATGTTTGTTCTTCATTCAACAAATATTTACTGTTTACTATGTTTCAGACACTGTGCAAGGTGCAAACTCTAGCACCTTGCACAGTGCCTGATACATAGTAAACAATTTGTGTCACATGACACATCTAGATGGGACAATGAGCTGTGCCAGGGAGGACACATATAAATCAGGCACTATTCTAAGCACTAAACCTCTATGATTTCATTTAATCTACGCAACAACCCTGTGAATAAGCACCAGTATTTTTCCTTTTTTACAAAGAGGGAAACTGAGGCACAAAGTAACATGCCAAGGCCACACAGCTAGTGTAAGTCATAGAGCAGGTACTTGAACCAAGGCAGTCTGCTATTTCTTAACTATCATACCAGGAGACTTGTTTCTGTGGGTGTATGTGGTTTCTGAACCCCATAACCACTCTGTCTCCGAGGCAGGCATCATTATCCCTGTTAAAAGTAAAACAAGGCTGGGCACAGTGGCTCATGCCTGTAATCCCAGCACTTTGGGGGGGTCCAAGGCTGGTGGATCACCTGAGATAAGGAGTCCAAGACCAGCCTGGCCAACATGGTGAAACCCCGTCTCTACTGAAAAAAAAATACAAAAATTAGCCACGTGTAGTGGCAGGTGCCTGTAATCCCAGCTCCTTGGGAGGCTGAGGCAGGAGAATCACTTGAACCCGGGAGGCAGAGGTTGCAGTGAGCCGAGATTAGGCCACTGCACTCCAGCCTAGGCGACAAGAGCAAGACTCCATCTCAAAAAAAAAAAAAAAGTAAAACAAATGGAAACTGCAAGTGGGTAAGTCTTTTCCCCAAAATAAAACCACCAGTAAGTGATGGACTGGGACTATGAAGCATGATCTGCTTGACCGGAAAGCCTGAGCTCCTGCTGCTTGGCCAGGTGCCTCTCTCTGTGATCAGAACCATCACGGAGGCCTGGGCAGAGGACCTCTATGGGAAGTCAGCTCAGGGAAGCATTAATTCTGCCTCAGAGAACTGGACGATGTTTGACAAAAGGAATGATATTTGAGCTGGGCTTTGGAGGTCAAAGAGTATTCTGCAAAGCAGTGAGGGAGAGGAAGGCATGTCAAGATCAGGGAACAGTGTGTACCCTGGCGTGGCTAGACTGTACGGAGCGTGTGTAGGGGTTGGCAGGGGAGAGGTGGCAAGGAGTACTGGGGGTTGAGACTGGAACACTGGGTCAGAGCCAGTTGGAAGGACTTGGCTTAAATGCCAGACTTGGGCTTTATCCTGCA
Task1_train_1940
This alteration occurs within gene ATP1A2 (ATPase Na+/K+ transporting subunit alpha 2) located on Chromosome 1. Is it associated with a disease or is it a benign variant?
Pathogenic; Familial hemiplegic migraine
TGTGATGTGTCACTATCCTGGTTCGCCTCTCCTCTGTCCCTTCCTGCTCCCCCTACACTGATTCTCAGGCCTCAGCTGTCTGTTCTTCCTACACCCTGAGCAAGAGCCAATCTCCTCCCAGTTTGCAGTGTCCCTTCTGTGTTGATGACTCAGACATCCCTATGCTCAGCTCTGCTCTGGCCCTCTCTGGAGCTCTAGTCAAACGTCTTAAACCCCCTAATGGGCATTTCATCTTAACAGATACTCATGATCTCAACACATCTAAAATTGAACATTCATTATTTACAGCTAAGTCCCACCCATTCAAGTTAGTGGAGTAGAATCAGGGGAGGAGGAATGGAGCCACGGTCTAGGGTAAGGTTATGGCCATCTCCGGCTTCAGCCTTAACCTTTTTTATTCTCCTCTTTCTCTACCAGGTGTGCCTGACCCTGACAGCCAAGCGCATGGCACGGAAGAACTGCCTGGTGAAGAACCTGGAGGCGGTGGAGACGCTGGGCTCCACGTCCACCATCTGCTCGGACAAGACGGGCACCCTCACCCAGAACCGCATGACCGTCGCCCACATGTGGTTCGACAACCAAATCCATGAGGCTGACACCACCGAAGATCAGTCTGGTGATTGGGTGCTCCAGAGGGGGTGGATAGGATTAGAGGAGGCTGAGGGCAGTGGCGTGGTGGGGTGAGTGGTTGAGATAAAGGCTCTAAAGGGAGCCACGCTCCTGGTTCCCCCTCATTTCCTCCCAGGGGCCACTTTTGACAAACGATCCCCTACGTGGACGGCCCTGTCTCGAATTGCTGGTCTCTGCAACCGCGCCGTCTTCAAGGCAGGACAGGAGAACATCTCCGTGTCTAAGGTAGGGGGTCAGGACACACACCAGGTATGTTTTGGGGGTGTCTCCAAAGCCTCTTGCTGGCCCCAGCTTTCCTTCTCACATGATGTGGCTGCCTTGGGGGTTTCAGTGCCGCCTTCACCTGATCCTCCACTCCCTTCCCTCCCATGCTGACACTGAATTCTTGTCTCTTCTGGCAGCGGGACACAGCTGGTGATGCCTCTGAGTCAGCTCTGCTCAAGTGCATTGAGCTCTCCTGTGGCTCAGTGAGGAAAATGAGAGACAGAAACCCCAAGGTGGCAGAGATTCCTTTCAACTCTACCAACAAGTACCAGGTCTGCTTGGGTTGCCAGGACAGAGGAAGAGAGAGGGATATAAATGGGTGAGGGTGGACAAAGCCAAGGGGAATCATCACTAGCAGGAGTGGGGGTGTCTGAGGGTCATGTTCCCTCCCCCTGCTAAGTCCCCCAGGACAGCTCATATGACTGCATGTCTGATTGCAACTAGCCCCAGCTCCCAAACCTTACTCCATCCCTTACTACAATCTGTCACTCTCTCAACTCTTCTTCCCATAGCTCCGCATCCTCTGGCCTAGCCTTCCAACTCTTCTACCCCAGTCAGTGAAACCATAATTCTGTAATTCCTTTATGGTGCCCCTTAGCCTTTAGGCACCTGTTAAATGCCAAGAATGCAATCTCAGCATTCCTTATTATCCATAGAGGTAAAGCCCCCTGAGGCCAGGTGGTGGTGGGGATGCTGAGGAGGGAGCCGTTCAGCCCCTAGCACAGTGCCTGTCTTAACCTGACCTCAATAAATATTTGTTGAATGAAAGACTGTCCTACGGAGGTGGCTCTCAGGTTACAAGTGTTGGAACTGTGAGGTCTAAACACCCCCCTGCACAAGGAGATTCTCTTTGTTGACAATCTTTGATGGGTTGGGGCTACTTTTCTAAGGTGGTTTCCTTACCAGCTGCTGCTCTATGCCGCGCTACCAAGACAAGTATGGCCCTCTCTGTAACTACCTGTTGTCTCTCCAGCTGTCTATCCACGAGCGAGAAGACAGCCCCCAGAGCCACGTGCTGGTGATGAAGGGGGCCCCAGAGCGCATTCTGGACCGGTGCTCCACCATCCTGGTGCAGGGCAAGGAGATCCCGCTCGACAAGGAGATGCAAGATGCCTTTCAAAATGCCTACATGGAGCTGGGGGGACTTGGGGAGCGTGTGCTGGGTGAGAGGCCAGAAACAGGAGGCTCAGAAGGGGATTCCCAAGCCTCTGCGGCATCCCTGGGGTGGGGGACTGTGGGGGCGTCCAGGAAGCCACTCTGCGGATCTCACTGATCCCTTCTGCCCCCCTTTAGGATTCTGTCAACTGAATCTGCCATCTGGAAAGTTTCCTCGGGGCTTCAAATTCGACACGGATGAGCTGAACTTTCCCACGGAGAAGCTTTGCTTTGTGGGGCTCATGTCTATGATTGACCCTCCCCGGGCTGCTGTGCCAGATGCTGTGGGCAAGTGCCGAAGCGCAGGCATCAAGGTACTGGCCTCCCATCCTCCCCTCCATTCTAGCCTCCCCCATGCCAGAGTTCAAGGAGCTGCAGTGGCTGCTGCCCTGGAAAGGCCCAGGCCACGGTGGCCTCCTTCCCACTGACTCAGAGAAGAAGCTGTCCATCTGCAAGGAAAGGCCCACCCCTGCCTTGGGGCACTCACCCTTATCCCTTTTGCTCAGAGAGGCCAGTGTCCCATGCCCCTCCTCTCCCTCCCTGGCACAGCTCTTTGTCCCATCTGCATGTGTACCCTTCCATTCTGATTTGAAGCATAATCTGGCACTCCTATCTTGAAGACCTAGTTGTCCTACCCTTCCCAACTACTGCCCACCCTCTCTGTCAACTTAGGATGGGATTAGCAGGCTCTTGTATGCTCCCAGTGGCTCAGCCCATAACCCCACAGAATGCCTCCCACTCAAGGTTCTCTTGTTCAACTACAATTGCTTCTCACTGACCACTCCCTCCTCTGTGCTATGTTTGTTCTTCATTCAACAAATATTTACTGTTTACTATGTTTCAGACACTGTGCAAGGTGCAAACTCTAGCACCTTGCACAGTGCCTGATACATAGTAAACAATTTGTGTCACATGACACATCTAGATGGGACAATGAGCTGTGCCAGGGAGGACACATATAAATCAGGCACTATTCTAAGCACTAAACCTCTATGATTTCATTTAATCTACGCAACAACCCTGTGAATAAGCACCAGTATTTTTCCTTTTTTACAAAGAGGGAAACTGAGGCACAAAGTAACATGCCAAGGCCACACAGCTAGTGTAAGTCATAGAGCAGGTACTTGAACCAAGGCAGTCTGCTATTTCTTAACTATCATACCAGGAGACTTGTTTCTGTGGGTGTATGTGGTTTCTGAACCCCATAACCACTCTGTCTCCGAGGCAGGCATCATTATCCCTGTTAAAAGTAAAACAAGGCTGGGCACAGTGGCTCATGCCTGTAATCCCAGCACTTTGGGGGGGTCCAAGGCTGGTGGATCACCTGAGATAAGGAGTCCAAGACCAGCCTGGCCAACATGGTGAAACCCCGTCTCTACTGAAAAAAAAATACAAAAATTAGCCACGTGTAGTGGCAGGTGCCTGTAATCCCAGCTCCTTGGGAGGCTGAGGCAGGAGAATCACTTGAACCCGGGAGGCAGAGGTTGCAGTGAGCCGAGATTAGGCCACTGCACTCCAGCCTAGGCGACAAGAGCAAGACTCCATCTCAAAAAAAAAAAAAAAGTAAAACAAATGGAAACTGCAAGTGGGTAAGTCTTTTCCCCAAAATAAAACCACCAGTAAGTGATGGACTGGGACTATGAAGCATGATCTGCTTGACCGGAAAGCCTGAGCTCCTGCTGCTTGGCCAGGTGCCTCTCTCTGTGATCAGAACCATCACGGAGGCCTGGGCAGAGGACCTCTATGGGAAGTCAGCTCAGGGAAGCATTAATTCTGCCTCAGAGAACTGGACGATGTTTGACAAAAGGAATGATATTTGAGCTGGGCTTTGGAGGTCAAAGAGTATTCTGCAAAGCAGTGAGGGAGAGGAAGGCATGTCAAGATCAGGGAACAGTGTGTACCCTGGCGTGGCTAGACTGTACGGAGCGTGTGTAGGGGTTGGCAGGGGAGAGGTGGCAAGGAGTACTGGGGGTTGAGACTGGAACACTGGGTCAGAGCCAGTTGGAAGGACTTGGCTTAAATGCCAGACTTGGGCTTTATCCTGCAG
TGTGATGTGTCACTATCCTGGTTCGCCTCTCCTCTGTCCCTTCCTGCTCCCCCTACACTGATTCTCAGGCCTCAGCTGTCTGTTCTTCCTACACCCTGAGCAAGAGCCAATCTCCTCCCAGTTTGCAGTGTCCCTTCTGTGTTGATGACTCAGACATCCCTATGCTCAGCTCTGCTCTGGCCCTCTCTGGAGCTCTAGTCAAACGTCTTAAACCCCCTAATGGGCATTTCATCTTAACAGATACTCATGATCTCAACACATCTAAAATTGAACATTCATTATTTACAGCTAAGTCCCACCCATTCAAGTTAGTGGAGTAGAATCAGGGGAGGAGGAATGGAGCCACGGTCTAGGGTAAGGTTATGGCCATCTCCGGCTTCAGCCTTAACCTTTTTTATTCTCCTCTTTCTCTACCAGGTGTGCCTGACCCTGACAGCCAAGCGCATGGCACGGAAGAACTGCCTGGTGAAGAACCTGGAGGCGGTGGAGACGCTGGGCTCCACGTCCACCATCTGCTCGGACAAGACGGGCACCCTCACCCAGAACCGCATGACCGTCGCCCACATGTGGTTCGACAACCAAATCCATGAGGCTGACACCACCGAAGATCAGTCTGGTGATTGGGTGCTCCAGAGGGGGTGGATAGGATTAGAGGAGGCTGAGGGCAGTGGCGTGGTGGGGTGAGTGGTTGAGATAAAGGCTCTAAAGGGAGCCACGCTCCTGGTTCCCCCTCATTTCCTCCCAGGGGCCACTTTTGACAAACGATCCCCTACGTGGACGGCCCTGTCTCGAATTGCTGGTCTCTGCAACCGCGCCGTCTTCAAGGCAGGACAGGAGAACATCTCCGTGTCTAAGGTAGGGGGTCAGGACACACACCAGGTATGTTTTGGGGGTGTCTCCAAAGCCTCTTGCTGGCCCCAGCTTTCCTTCTCACATGATGTGGCTGCCTTGGGGGTTTCAGTGCCGCCTTCACCTGATCCTCCACTCCCTTCCCTCCCATGCTGACACTGAATTCTTGTCTCTTCTGGCAGCGGGACACAGCTGGTGATGCCTCTGAGTCAGCTCTGCTCAAGTGCATTGAGCTCTCCTGTGGCTCAGTGAGGAAAATGAGAGACAGAAACCCCAAGGTGGCAGAGATTCCTTTCAACTCTACCAACAAGTACCAGGTCTGCTTGGGTTGCCAGGACAGAGGAAGAGAGAGGGATATAAATGGGTGAGGGTGGACAAAGCCAAGGGGAATCATCACTAGCAGGAGTGGGGGTGTCTGAGGGTCATGTTCCCTCCCCCTGCTAAGTCCCCCAGGACAGCTCATATGACTGCATGTCTGATTGCAACTAGCCCCAGCTCCCAAACCTTACTCCATCCCTTACTACAATCTGTCACTCTCTCAACTCTTCTTCCCATAGCTCCGCATCCTCTGGCCTAGCCTTCCAACTCTTCTACCCCAGTCAGTGAAACCATAATTCTGTAATTCCTTTATGGTGCCCCTTAGCCTTTAGGCACCTGTTAAATGCCAAGAATGCAATCTCAGCATTCCTTATTATCCATAGAGGTAAAGCCCCCTGAGGCCAGGTGGTGGTGGGGATGCTGAGGAGGGAGCCGTTCAGCCCCTAGCACAGTGCCTGTCTTAACCTGACCTCAATAAATATTTGTTGAATGAAAGACTGTCCTACGGAGGTGGCTCTCAGGTTACAAGTGTTGGAACTGTGAGGTCTAAACACCCCCCTGCACAAGGAGATTCTCTTTGTTGACAATCTTTGATGGGTTGGGGCTACTTTTCTAAGGTGGTTTCCTTACCAGCTGCTGCTCTATGCCGCGCTACCAAGACAAGTATGGCCCTCTCTGTAACTACCTGTTGTCTCTCCAGCTGTCTATCCACGAGCGAGAAGACAGCCCCCAGAGCCACGTGCTGGTGATGAAGGGGGCCCCAGAGCGCATTCTGGACCGGTGCTCCACCATCCTGGTGCAGGGCAAGGAGATCCCGCTCGACAAGGAGATGCAAGATGCCTTTCAAAATGCCTACATGGAGCTGGGGGGACTTGGGGAGCATGTGCTGGGTGAGAGGCCAGAAACAGGAGGCTCAGAAGGGGATTCCCAAGCCTCTGCGGCATCCCTGGGGTGGGGGACTGTGGGGGCGTCCAGGAAGCCACTCTGCGGATCTCACTGATCCCTTCTGCCCCCCTTTAGGATTCTGTCAACTGAATCTGCCATCTGGAAAGTTTCCTCGGGGCTTCAAATTCGACACGGATGAGCTGAACTTTCCCACGGAGAAGCTTTGCTTTGTGGGGCTCATGTCTATGATTGACCCTCCCCGGGCTGCTGTGCCAGATGCTGTGGGCAAGTGCCGAAGCGCAGGCATCAAGGTACTGGCCTCCCATCCTCCCCTCCATTCTAGCCTCCCCCATGCCAGAGTTCAAGGAGCTGCAGTGGCTGCTGCCCTGGAAAGGCCCAGGCCACGGTGGCCTCCTTCCCACTGACTCAGAGAAGAAGCTGTCCATCTGCAAGGAAAGGCCCACCCCTGCCTTGGGGCACTCACCCTTATCCCTTTTGCTCAGAGAGGCCAGTGTCCCATGCCCCTCCTCTCCCTCCCTGGCACAGCTCTTTGTCCCATCTGCATGTGTACCCTTCCATTCTGATTTGAAGCATAATCTGGCACTCCTATCTTGAAGACCTAGTTGTCCTACCCTTCCCAACTACTGCCCACCCTCTCTGTCAACTTAGGATGGGATTAGCAGGCTCTTGTATGCTCCCAGTGGCTCAGCCCATAACCCCACAGAATGCCTCCCACTCAAGGTTCTCTTGTTCAACTACAATTGCTTCTCACTGACCACTCCCTCCTCTGTGCTATGTTTGTTCTTCATTCAACAAATATTTACTGTTTACTATGTTTCAGACACTGTGCAAGGTGCAAACTCTAGCACCTTGCACAGTGCCTGATACATAGTAAACAATTTGTGTCACATGACACATCTAGATGGGACAATGAGCTGTGCCAGGGAGGACACATATAAATCAGGCACTATTCTAAGCACTAAACCTCTATGATTTCATTTAATCTACGCAACAACCCTGTGAATAAGCACCAGTATTTTTCCTTTTTTACAAAGAGGGAAACTGAGGCACAAAGTAACATGCCAAGGCCACACAGCTAGTGTAAGTCATAGAGCAGGTACTTGAACCAAGGCAGTCTGCTATTTCTTAACTATCATACCAGGAGACTTGTTTCTGTGGGTGTATGTGGTTTCTGAACCCCATAACCACTCTGTCTCCGAGGCAGGCATCATTATCCCTGTTAAAAGTAAAACAAGGCTGGGCACAGTGGCTCATGCCTGTAATCCCAGCACTTTGGGGGGGTCCAAGGCTGGTGGATCACCTGAGATAAGGAGTCCAAGACCAGCCTGGCCAACATGGTGAAACCCCGTCTCTACTGAAAAAAAAATACAAAAATTAGCCACGTGTAGTGGCAGGTGCCTGTAATCCCAGCTCCTTGGGAGGCTGAGGCAGGAGAATCACTTGAACCCGGGAGGCAGAGGTTGCAGTGAGCCGAGATTAGGCCACTGCACTCCAGCCTAGGCGACAAGAGCAAGACTCCATCTCAAAAAAAAAAAAAAAGTAAAACAAATGGAAACTGCAAGTGGGTAAGTCTTTTCCCCAAAATAAAACCACCAGTAAGTGATGGACTGGGACTATGAAGCATGATCTGCTTGACCGGAAAGCCTGAGCTCCTGCTGCTTGGCCAGGTGCCTCTCTCTGTGATCAGAACCATCACGGAGGCCTGGGCAGAGGACCTCTATGGGAAGTCAGCTCAGGGAAGCATTAATTCTGCCTCAGAGAACTGGACGATGTTTGACAAAAGGAATGATATTTGAGCTGGGCTTTGGAGGTCAAAGAGTATTCTGCAAAGCAGTGAGGGAGAGGAAGGCATGTCAAGATCAGGGAACAGTGTGTACCCTGGCGTGGCTAGACTGTACGGAGCGTGTGTAGGGGTTGGCAGGGGAGAGGTGGCAAGGAGTACTGGGGGTTGAGACTGGAACACTGGGTCAGAGCCAGTTGGAAGGACTTGGCTTAAATGCCAGACTTGGGCTTTATCCTGCAG
Task1_train_1941
This mutation occurs in ATP1A2 (ATPase Na+/K+ transporting subunit alpha 2) on Chromosome 1. Does this change lead to a known medical condition, or is it benign?
Pathogenic; ATP1A2-related disorder
TGTGATGTGTCACTATCCTGGTTCGCCTCTCCTCTGTCCCTTCCTGCTCCCCCTACACTGATTCTCAGGCCTCAGCTGTCTGTTCTTCCTACACCCTGAGCAAGAGCCAATCTCCTCCCAGTTTGCAGTGTCCCTTCTGTGTTGATGACTCAGACATCCCTATGCTCAGCTCTGCTCTGGCCCTCTCTGGAGCTCTAGTCAAACGTCTTAAACCCCCTAATGGGCATTTCATCTTAACAGATACTCATGATCTCAACACATCTAAAATTGAACATTCATTATTTACAGCTAAGTCCCACCCATTCAAGTTAGTGGAGTAGAATCAGGGGAGGAGGAATGGAGCCACGGTCTAGGGTAAGGTTATGGCCATCTCCGGCTTCAGCCTTAACCTTTTTTATTCTCCTCTTTCTCTACCAGGTGTGCCTGACCCTGACAGCCAAGCGCATGGCACGGAAGAACTGCCTGGTGAAGAACCTGGAGGCGGTGGAGACGCTGGGCTCCACGTCCACCATCTGCTCGGACAAGACGGGCACCCTCACCCAGAACCGCATGACCGTCGCCCACATGTGGTTCGACAACCAAATCCATGAGGCTGACACCACCGAAGATCAGTCTGGTGATTGGGTGCTCCAGAGGGGGTGGATAGGATTAGAGGAGGCTGAGGGCAGTGGCGTGGTGGGGTGAGTGGTTGAGATAAAGGCTCTAAAGGGAGCCACGCTCCTGGTTCCCCCTCATTTCCTCCCAGGGGCCACTTTTGACAAACGATCCCCTACGTGGACGGCCCTGTCTCGAATTGCTGGTCTCTGCAACCGCGCCGTCTTCAAGGCAGGACAGGAGAACATCTCCGTGTCTAAGGTAGGGGGTCAGGACACACACCAGGTATGTTTTGGGGGTGTCTCCAAAGCCTCTTGCTGGCCCCAGCTTTCCTTCTCACATGATGTGGCTGCCTTGGGGGTTTCAGTGCCGCCTTCACCTGATCCTCCACTCCCTTCCCTCCCATGCTGACACTGAATTCTTGTCTCTTCTGGCAGCGGGACACAGCTGGTGATGCCTCTGAGTCAGCTCTGCTCAAGTGCATTGAGCTCTCCTGTGGCTCAGTGAGGAAAATGAGAGACAGAAACCCCAAGGTGGCAGAGATTCCTTTCAACTCTACCAACAAGTACCAGGTCTGCTTGGGTTGCCAGGACAGAGGAAGAGAGAGGGATATAAATGGGTGAGGGTGGACAAAGCCAAGGGGAATCATCACTAGCAGGAGTGGGGGTGTCTGAGGGTCATGTTCCCTCCCCCTGCTAAGTCCCCCAGGACAGCTCATATGACTGCATGTCTGATTGCAACTAGCCCCAGCTCCCAAACCTTACTCCATCCCTTACTACAATCTGTCACTCTCTCAACTCTTCTTCCCATAGCTCCGCATCCTCTGGCCTAGCCTTCCAACTCTTCTACCCCAGTCAGTGAAACCATAATTCTGTAATTCCTTTATGGTGCCCCTTAGCCTTTAGGCACCTGTTAAATGCCAAGAATGCAATCTCAGCATTCCTTATTATCCATAGAGGTAAAGCCCCCTGAGGCCAGGTGGTGGTGGGGATGCTGAGGAGGGAGCCGTTCAGCCCCTAGCACAGTGCCTGTCTTAACCTGACCTCAATAAATATTTGTTGAATGAAAGACTGTCCTACGGAGGTGGCTCTCAGGTTACAAGTGTTGGAACTGTGAGGTCTAAACACCCCCCTGCACAAGGAGATTCTCTTTGTTGACAATCTTTGATGGGTTGGGGCTACTTTTCTAAGGTGGTTTCCTTACCAGCTGCTGCTCTATGCCGCGCTACCAAGACAAGTATGGCCCTCTCTGTAACTACCTGTTGTCTCTCCAGCTGTCTATCCACGAGCGAGAAGACAGCCCCCAGAGCCACGTGCTGGTGATGAAGGGGGCCCCAGAGCGCATTCTGGACCGGTGCTCCACCATCCTGGTGCAGGGCAAGGAGATCCCGCTCGACAAGGAGATGCAAGATGCCTTTCAAAATGCCTACATGGAGCTGGGGGGACTTGGGGAGCGTGTGCTGGGTGAGAGGCCAGAAACAGGAGGCTCAGAAGGGGATTCCCAAGCCTCTGCGGCATCCCTGGGGTGGGGGACTGTGGGGGCGTCCAGGAAGCCACTCTGCGGATCTCACTGATCCCTTCTGCCCCCCTTTAGGATTCTGTCAACTGAATCTGCCATCTGGAAAGTTTCCTCGGGGCTTCAAATTCGACACGGATGAGCTGAACTTTCCCACGGAGAAGCTTTGCTTTGTGGGGCTCATGTCTATGATTGACCCTCCCCGGGCTGCTGTGCCAGATGCTGTGGGCAAGTGCCGAAGCGCAGGCATCAAGGTACTGGCCTCCCATCCTCCCCTCCATTCTAGCCTCCCCCATGCCAGAGTTCAAGGAGCTGCAGTGGCTGCTGCCCTGGAAAGGCCCAGGCCACGGTGGCCTCCTTCCCACTGACTCAGAGAAGAAGCTGTCCATCTGCAAGGAAAGGCCCACCCCTGCCTTGGGGCACTCACCCTTATCCCTTTTGCTCAGAGAGGCCAGTGTCCCATGCCCCTCCTCTCCCTCCCTGGCACAGCTCTTTGTCCCATCTGCATGTGTACCCTTCCATTCTGATTTGAAGCATAATCTGGCACTCCTATCTTGAAGACCTAGTTGTCCTACCCTTCCCAACTACTGCCCACCCTCTCTGTCAACTTAGGATGGGATTAGCAGGCTCTTGTATGCTCCCAGTGGCTCAGCCCATAACCCCACAGAATGCCTCCCACTCAAGGTTCTCTTGTTCAACTACAATTGCTTCTCACTGACCACTCCCTCCTCTGTGCTATGTTTGTTCTTCATTCAACAAATATTTACTGTTTACTATGTTTCAGACACTGTGCAAGGTGCAAACTCTAGCACCTTGCACAGTGCCTGATACATAGTAAACAATTTGTGTCACATGACACATCTAGATGGGACAATGAGCTGTGCCAGGGAGGACACATATAAATCAGGCACTATTCTAAGCACTAAACCTCTATGATTTCATTTAATCTACGCAACAACCCTGTGAATAAGCACCAGTATTTTTCCTTTTTTACAAAGAGGGAAACTGAGGCACAAAGTAACATGCCAAGGCCACACAGCTAGTGTAAGTCATAGAGCAGGTACTTGAACCAAGGCAGTCTGCTATTTCTTAACTATCATACCAGGAGACTTGTTTCTGTGGGTGTATGTGGTTTCTGAACCCCATAACCACTCTGTCTCCGAGGCAGGCATCATTATCCCTGTTAAAAGTAAAACAAGGCTGGGCACAGTGGCTCATGCCTGTAATCCCAGCACTTTGGGGGGGTCCAAGGCTGGTGGATCACCTGAGATAAGGAGTCCAAGACCAGCCTGGCCAACATGGTGAAACCCCGTCTCTACTGAAAAAAAAATACAAAAATTAGCCACGTGTAGTGGCAGGTGCCTGTAATCCCAGCTCCTTGGGAGGCTGAGGCAGGAGAATCACTTGAACCCGGGAGGCAGAGGTTGCAGTGAGCCGAGATTAGGCCACTGCACTCCAGCCTAGGCGACAAGAGCAAGACTCCATCTCAAAAAAAAAAAAAAAGTAAAACAAATGGAAACTGCAAGTGGGTAAGTCTTTTCCCCAAAATAAAACCACCAGTAAGTGATGGACTGGGACTATGAAGCATGATCTGCTTGACCGGAAAGCCTGAGCTCCTGCTGCTTGGCCAGGTGCCTCTCTCTGTGATCAGAACCATCACGGAGGCCTGGGCAGAGGACCTCTATGGGAAGTCAGCTCAGGGAAGCATTAATTCTGCCTCAGAGAACTGGACGATGTTTGACAAAAGGAATGATATTTGAGCTGGGCTTTGGAGGTCAAAGAGTATTCTGCAAAGCAGTGAGGGAGAGGAAGGCATGTCAAGATCAGGGAACAGTGTGTACCCTGGCGTGGCTAGACTGTACGGAGCGTGTGTAGGGGTTGGCAGGGGAGAGGTGGCAAGGAGTACTGGGGGTTGAGACTGGAACACTGGGTCAGAGCCAGTTGGAAGGACTTGGCTTAAATGCCAGACTTGGGCTTTATCCTGCAG
TGTGATGTGTCACTATCCTGGTTCGCCTCTCCTCTGTCCCTTCCTGCTCCCCCTACACTGATTCTCAGGCCTCAGCTGTCTGTTCTTCCTACACCCTGAGCAAGAGCCAATCTCCTCCCAGTTTGCAGTGTCCCTTCTGTGTTGATGACTCAGACATCCCTATGCTCAGCTCTGCTCTGGCCCTCTCTGGAGCTCTAGTCAAACGTCTTAAACCCCCTAATGGGCATTTCATCTTAACAGATACTCATGATCTCAACACATCTAAAATTGAACATTCATTATTTACAGCTAAGTCCCACCCATTCAAGTTAGTGGAGTAGAATCAGGGGAGGAGGAATGGAGCCACGGTCTAGGGTAAGGTTATGGCCATCTCCGGCTTCAGCCTTAACCTTTTTTATTCTCCTCTTTCTCTACCAGGTGTGCCTGACCCTGACAGCCAAGCGCATGGCACGGAAGAACTGCCTGGTGAAGAACCTGGAGGCGGTGGAGACGCTGGGCTCCACGTCCACCATCTGCTCGGACAAGACGGGCACCCTCACCCAGAACCGCATGACCGTCGCCCACATGTGGTTCGACAACCAAATCCATGAGGCTGACACCACCGAAGATCAGTCTGGTGATTGGGTGCTCCAGAGGGGGTGGATAGGATTAGAGGAGGCTGAGGGCAGTGGCGTGGTGGGGTGAGTGGTTGAGATAAAGGCTCTAAAGGGAGCCACGCTCCTGGTTCCCCCTCATTTCCTCCCAGGGGCCACTTTTGACAAACGATCCCCTACGTGGACGGCCCTGTCTCGAATTGCTGGTCTCTGCAACCGCGCCGTCTTCAAGGCAGGACAGGAGAACATCTCCGTGTCTAAGGTAGGGGGTCAGGACACACACCAGGTATGTTTTGGGGGTGTCTCCAAAGCCTCTTGCTGGCCCCAGCTTTCCTTCTCACATGATGTGGCTGCCTTGGGGGTTTCAGTGCCGCCTTCACCTGATCCTCCACTCCCTTCCCTCCCATGCTGACACTGAATTCTTGTCTCTTCTGGCAGCGGGACACAGCTGGTGATGCCTCTGAGTCAGCTCTGCTCAAGTGCATTGAGCTCTCCTGTGGCTCAGTGAGGAAAATGAGAGACAGAAACCCCAAGGTGGCAGAGATTCCTTTCAACTCTACCAACAAGTACCAGGTCTGCTTGGGTTGCCAGGACAGAGGAAGAGAGAGGGATATAAATGGGTGAGGGTGGACAAAGCCAAGGGGAATCATCACTAGCAGGAGTGGGGGTGTCTGAGGGTCATGTTCCCTCCCCCTGCTAAGTCCCCCAGGACAGCTCATATGACTGCATGTCTGATTGCAACTAGCCCCAGCTCCCAAACCTTACTCCATCCCTTACTACAATCTGTCACTCTCTCAACTCTTCTTCCCATAGCTCCGCATCCTCTGGCCTAGCCTTCCAACTCTTCTACCCCAGTCAGTGAAACCATAATTCTGTAATTCCTTTATGGTGCCCCTTAGCCTTTAGGCACCTGTTAAATGCCAAGAATGCAATCTCAGCATTCCTTATTATCCATAGAGGTAAAGCCCCCTGAGGCCAGGTGGTGGTGGGGATGCTGAGGAGGGAGCCGTTCAGCCCCTAGCACAGTGCCTGTCTTAACCTGACCTCAATAAATATTTGTTGAATGAAAGACTGTCCTACGGAGGTGGCTCTCAGGTTACAAGTGTTGGAACTGTGAGGTCTAAACACCCCCCTGCACAAGGAGATTCTCTTTGTTGACAATCTTTGATGGGTTGGGGCTACTTTTCTAAGGTGGTTTCCTTACCAGCTGCTGCTCTATGCCGCGCTACCAAGACAAGTATGGCCCTCTCTGTAACTACCTGTTGTCTCTCCAGCTGTCTATCCACGAGCGAGAAGACAGCCCCCAGAGCCACGTGCTGGTGATGAAGGGGGCCCCAGAGCGCATTCTGGACCGGTGCTCCACCATCCTGGTGCAGGGCAAGGAGATCCCGCTCGACAAGGAGATGCAAGATGCCTTTCAAAATGCCTACATGGAGCTGGGGGGACTTGGGGAGCATGTGCTGGGTGAGAGGCCAGAAACAGGAGGCTCAGAAGGGGATTCCCAAGCCTCTGCGGCATCCCTGGGGTGGGGGACTGTGGGGGCGTCCAGGAAGCCACTCTGCGGATCTCACTGATCCCTTCTGCCCCCCTTTAGGATTCTGTCAACTGAATCTGCCATCTGGAAAGTTTCCTCGGGGCTTCAAATTCGACACGGATGAGCTGAACTTTCCCACGGAGAAGCTTTGCTTTGTGGGGCTCATGTCTATGATTGACCCTCCCCGGGCTGCTGTGCCAGATGCTGTGGGCAAGTGCCGAAGCGCAGGCATCAAGGTACTGGCCTCCCATCCTCCCCTCCATTCTAGCCTCCCCCATGCCAGAGTTCAAGGAGCTGCAGTGGCTGCTGCCCTGGAAAGGCCCAGGCCACGGTGGCCTCCTTCCCACTGACTCAGAGAAGAAGCTGTCCATCTGCAAGGAAAGGCCCACCCCTGCCTTGGGGCACTCACCCTTATCCCTTTTGCTCAGAGAGGCCAGTGTCCCATGCCCCTCCTCTCCCTCCCTGGCACAGCTCTTTGTCCCATCTGCATGTGTACCCTTCCATTCTGATTTGAAGCATAATCTGGCACTCCTATCTTGAAGACCTAGTTGTCCTACCCTTCCCAACTACTGCCCACCCTCTCTGTCAACTTAGGATGGGATTAGCAGGCTCTTGTATGCTCCCAGTGGCTCAGCCCATAACCCCACAGAATGCCTCCCACTCAAGGTTCTCTTGTTCAACTACAATTGCTTCTCACTGACCACTCCCTCCTCTGTGCTATGTTTGTTCTTCATTCAACAAATATTTACTGTTTACTATGTTTCAGACACTGTGCAAGGTGCAAACTCTAGCACCTTGCACAGTGCCTGATACATAGTAAACAATTTGTGTCACATGACACATCTAGATGGGACAATGAGCTGTGCCAGGGAGGACACATATAAATCAGGCACTATTCTAAGCACTAAACCTCTATGATTTCATTTAATCTACGCAACAACCCTGTGAATAAGCACCAGTATTTTTCCTTTTTTACAAAGAGGGAAACTGAGGCACAAAGTAACATGCCAAGGCCACACAGCTAGTGTAAGTCATAGAGCAGGTACTTGAACCAAGGCAGTCTGCTATTTCTTAACTATCATACCAGGAGACTTGTTTCTGTGGGTGTATGTGGTTTCTGAACCCCATAACCACTCTGTCTCCGAGGCAGGCATCATTATCCCTGTTAAAAGTAAAACAAGGCTGGGCACAGTGGCTCATGCCTGTAATCCCAGCACTTTGGGGGGGTCCAAGGCTGGTGGATCACCTGAGATAAGGAGTCCAAGACCAGCCTGGCCAACATGGTGAAACCCCGTCTCTACTGAAAAAAAAATACAAAAATTAGCCACGTGTAGTGGCAGGTGCCTGTAATCCCAGCTCCTTGGGAGGCTGAGGCAGGAGAATCACTTGAACCCGGGAGGCAGAGGTTGCAGTGAGCCGAGATTAGGCCACTGCACTCCAGCCTAGGCGACAAGAGCAAGACTCCATCTCAAAAAAAAAAAAAAAGTAAAACAAATGGAAACTGCAAGTGGGTAAGTCTTTTCCCCAAAATAAAACCACCAGTAAGTGATGGACTGGGACTATGAAGCATGATCTGCTTGACCGGAAAGCCTGAGCTCCTGCTGCTTGGCCAGGTGCCTCTCTCTGTGATCAGAACCATCACGGAGGCCTGGGCAGAGGACCTCTATGGGAAGTCAGCTCAGGGAAGCATTAATTCTGCCTCAGAGAACTGGACGATGTTTGACAAAAGGAATGATATTTGAGCTGGGCTTTGGAGGTCAAAGAGTATTCTGCAAAGCAGTGAGGGAGAGGAAGGCATGTCAAGATCAGGGAACAGTGTGTACCCTGGCGTGGCTAGACTGTACGGAGCGTGTGTAGGGGTTGGCAGGGGAGAGGTGGCAAGGAGTACTGGGGGTTGAGACTGGAACACTGGGTCAGAGCCAGTTGGAAGGACTTGGCTTAAATGCCAGACTTGGGCTTTATCCTGCAG
Task1_train_1942
This mutation is located in gene ATP1A2 (ATPase Na+/K+ transporting subunit alpha 2) on Chromosome 1. Is it associated with a disease or is it a benign polymorphism?
Pathogenic; Developmental and epileptic encephalopathy 98
TGTGATGTGTCACTATCCTGGTTCGCCTCTCCTCTGTCCCTTCCTGCTCCCCCTACACTGATTCTCAGGCCTCAGCTGTCTGTTCTTCCTACACCCTGAGCAAGAGCCAATCTCCTCCCAGTTTGCAGTGTCCCTTCTGTGTTGATGACTCAGACATCCCTATGCTCAGCTCTGCTCTGGCCCTCTCTGGAGCTCTAGTCAAACGTCTTAAACCCCCTAATGGGCATTTCATCTTAACAGATACTCATGATCTCAACACATCTAAAATTGAACATTCATTATTTACAGCTAAGTCCCACCCATTCAAGTTAGTGGAGTAGAATCAGGGGAGGAGGAATGGAGCCACGGTCTAGGGTAAGGTTATGGCCATCTCCGGCTTCAGCCTTAACCTTTTTTATTCTCCTCTTTCTCTACCAGGTGTGCCTGACCCTGACAGCCAAGCGCATGGCACGGAAGAACTGCCTGGTGAAGAACCTGGAGGCGGTGGAGACGCTGGGCTCCACGTCCACCATCTGCTCGGACAAGACGGGCACCCTCACCCAGAACCGCATGACCGTCGCCCACATGTGGTTCGACAACCAAATCCATGAGGCTGACACCACCGAAGATCAGTCTGGTGATTGGGTGCTCCAGAGGGGGTGGATAGGATTAGAGGAGGCTGAGGGCAGTGGCGTGGTGGGGTGAGTGGTTGAGATAAAGGCTCTAAAGGGAGCCACGCTCCTGGTTCCCCCTCATTTCCTCCCAGGGGCCACTTTTGACAAACGATCCCCTACGTGGACGGCCCTGTCTCGAATTGCTGGTCTCTGCAACCGCGCCGTCTTCAAGGCAGGACAGGAGAACATCTCCGTGTCTAAGGTAGGGGGTCAGGACACACACCAGGTATGTTTTGGGGGTGTCTCCAAAGCCTCTTGCTGGCCCCAGCTTTCCTTCTCACATGATGTGGCTGCCTTGGGGGTTTCAGTGCCGCCTTCACCTGATCCTCCACTCCCTTCCCTCCCATGCTGACACTGAATTCTTGTCTCTTCTGGCAGCGGGACACAGCTGGTGATGCCTCTGAGTCAGCTCTGCTCAAGTGCATTGAGCTCTCCTGTGGCTCAGTGAGGAAAATGAGAGACAGAAACCCCAAGGTGGCAGAGATTCCTTTCAACTCTACCAACAAGTACCAGGTCTGCTTGGGTTGCCAGGACAGAGGAAGAGAGAGGGATATAAATGGGTGAGGGTGGACAAAGCCAAGGGGAATCATCACTAGCAGGAGTGGGGGTGTCTGAGGGTCATGTTCCCTCCCCCTGCTAAGTCCCCCAGGACAGCTCATATGACTGCATGTCTGATTGCAACTAGCCCCAGCTCCCAAACCTTACTCCATCCCTTACTACAATCTGTCACTCTCTCAACTCTTCTTCCCATAGCTCCGCATCCTCTGGCCTAGCCTTCCAACTCTTCTACCCCAGTCAGTGAAACCATAATTCTGTAATTCCTTTATGGTGCCCCTTAGCCTTTAGGCACCTGTTAAATGCCAAGAATGCAATCTCAGCATTCCTTATTATCCATAGAGGTAAAGCCCCCTGAGGCCAGGTGGTGGTGGGGATGCTGAGGAGGGAGCCGTTCAGCCCCTAGCACAGTGCCTGTCTTAACCTGACCTCAATAAATATTTGTTGAATGAAAGACTGTCCTACGGAGGTGGCTCTCAGGTTACAAGTGTTGGAACTGTGAGGTCTAAACACCCCCCTGCACAAGGAGATTCTCTTTGTTGACAATCTTTGATGGGTTGGGGCTACTTTTCTAAGGTGGTTTCCTTACCAGCTGCTGCTCTATGCCGCGCTACCAAGACAAGTATGGCCCTCTCTGTAACTACCTGTTGTCTCTCCAGCTGTCTATCCACGAGCGAGAAGACAGCCCCCAGAGCCACGTGCTGGTGATGAAGGGGGCCCCAGAGCGCATTCTGGACCGGTGCTCCACCATCCTGGTGCAGGGCAAGGAGATCCCGCTCGACAAGGAGATGCAAGATGCCTTTCAAAATGCCTACATGGAGCTGGGGGGACTTGGGGAGCGTGTGCTGGGTGAGAGGCCAGAAACAGGAGGCTCAGAAGGGGATTCCCAAGCCTCTGCGGCATCCCTGGGGTGGGGGACTGTGGGGGCGTCCAGGAAGCCACTCTGCGGATCTCACTGATCCCTTCTGCCCCCCTTTAGGATTCTGTCAACTGAATCTGCCATCTGGAAAGTTTCCTCGGGGCTTCAAATTCGACACGGATGAGCTGAACTTTCCCACGGAGAAGCTTTGCTTTGTGGGGCTCATGTCTATGATTGACCCTCCCCGGGCTGCTGTGCCAGATGCTGTGGGCAAGTGCCGAAGCGCAGGCATCAAGGTACTGGCCTCCCATCCTCCCCTCCATTCTAGCCTCCCCCATGCCAGAGTTCAAGGAGCTGCAGTGGCTGCTGCCCTGGAAAGGCCCAGGCCACGGTGGCCTCCTTCCCACTGACTCAGAGAAGAAGCTGTCCATCTGCAAGGAAAGGCCCACCCCTGCCTTGGGGCACTCACCCTTATCCCTTTTGCTCAGAGAGGCCAGTGTCCCATGCCCCTCCTCTCCCTCCCTGGCACAGCTCTTTGTCCCATCTGCATGTGTACCCTTCCATTCTGATTTGAAGCATAATCTGGCACTCCTATCTTGAAGACCTAGTTGTCCTACCCTTCCCAACTACTGCCCACCCTCTCTGTCAACTTAGGATGGGATTAGCAGGCTCTTGTATGCTCCCAGTGGCTCAGCCCATAACCCCACAGAATGCCTCCCACTCAAGGTTCTCTTGTTCAACTACAATTGCTTCTCACTGACCACTCCCTCCTCTGTGCTATGTTTGTTCTTCATTCAACAAATATTTACTGTTTACTATGTTTCAGACACTGTGCAAGGTGCAAACTCTAGCACCTTGCACAGTGCCTGATACATAGTAAACAATTTGTGTCACATGACACATCTAGATGGGACAATGAGCTGTGCCAGGGAGGACACATATAAATCAGGCACTATTCTAAGCACTAAACCTCTATGATTTCATTTAATCTACGCAACAACCCTGTGAATAAGCACCAGTATTTTTCCTTTTTTACAAAGAGGGAAACTGAGGCACAAAGTAACATGCCAAGGCCACACAGCTAGTGTAAGTCATAGAGCAGGTACTTGAACCAAGGCAGTCTGCTATTTCTTAACTATCATACCAGGAGACTTGTTTCTGTGGGTGTATGTGGTTTCTGAACCCCATAACCACTCTGTCTCCGAGGCAGGCATCATTATCCCTGTTAAAAGTAAAACAAGGCTGGGCACAGTGGCTCATGCCTGTAATCCCAGCACTTTGGGGGGGTCCAAGGCTGGTGGATCACCTGAGATAAGGAGTCCAAGACCAGCCTGGCCAACATGGTGAAACCCCGTCTCTACTGAAAAAAAAATACAAAAATTAGCCACGTGTAGTGGCAGGTGCCTGTAATCCCAGCTCCTTGGGAGGCTGAGGCAGGAGAATCACTTGAACCCGGGAGGCAGAGGTTGCAGTGAGCCGAGATTAGGCCACTGCACTCCAGCCTAGGCGACAAGAGCAAGACTCCATCTCAAAAAAAAAAAAAAAGTAAAACAAATGGAAACTGCAAGTGGGTAAGTCTTTTCCCCAAAATAAAACCACCAGTAAGTGATGGACTGGGACTATGAAGCATGATCTGCTTGACCGGAAAGCCTGAGCTCCTGCTGCTTGGCCAGGTGCCTCTCTCTGTGATCAGAACCATCACGGAGGCCTGGGCAGAGGACCTCTATGGGAAGTCAGCTCAGGGAAGCATTAATTCTGCCTCAGAGAACTGGACGATGTTTGACAAAAGGAATGATATTTGAGCTGGGCTTTGGAGGTCAAAGAGTATTCTGCAAAGCAGTGAGGGAGAGGAAGGCATGTCAAGATCAGGGAACAGTGTGTACCCTGGCGTGGCTAGACTGTACGGAGCGTGTGTAGGGGTTGGCAGGGGAGAGGTGGCAAGGAGTACTGGGGGTTGAGACTGGAACACTGGGTCAGAGCCAGTTGGAAGGACTTGGCTTAAATGCCAGACTTGGGCTTTATCCTGCAG
TGTGATGTGTCACTATCCTGGTTCGCCTCTCCTCTGTCCCTTCCTGCTCCCCCTACACTGATTCTCAGGCCTCAGCTGTCTGTTCTTCCTACACCCTGAGCAAGAGCCAATCTCCTCCCAGTTTGCAGTGTCCCTTCTGTGTTGATGACTCAGACATCCCTATGCTCAGCTCTGCTCTGGCCCTCTCTGGAGCTCTAGTCAAACGTCTTAAACCCCCTAATGGGCATTTCATCTTAACAGATACTCATGATCTCAACACATCTAAAATTGAACATTCATTATTTACAGCTAAGTCCCACCCATTCAAGTTAGTGGAGTAGAATCAGGGGAGGAGGAATGGAGCCACGGTCTAGGGTAAGGTTATGGCCATCTCCGGCTTCAGCCTTAACCTTTTTTATTCTCCTCTTTCTCTACCAGGTGTGCCTGACCCTGACAGCCAAGCGCATGGCACGGAAGAACTGCCTGGTGAAGAACCTGGAGGCGGTGGAGACGCTGGGCTCCACGTCCACCATCTGCTCGGACAAGACGGGCACCCTCACCCAGAACCGCATGACCGTCGCCCACATGTGGTTCGACAACCAAATCCATGAGGCTGACACCACCGAAGATCAGTCTGGTGATTGGGTGCTCCAGAGGGGGTGGATAGGATTAGAGGAGGCTGAGGGCAGTGGCGTGGTGGGGTGAGTGGTTGAGATAAAGGCTCTAAAGGGAGCCACGCTCCTGGTTCCCCCTCATTTCCTCCCAGGGGCCACTTTTGACAAACGATCCCCTACGTGGACGGCCCTGTCTCGAATTGCTGGTCTCTGCAACCGCGCCGTCTTCAAGGCAGGACAGGAGAACATCTCCGTGTCTAAGGTAGGGGGTCAGGACACACACCAGGTATGTTTTGGGGGTGTCTCCAAAGCCTCTTGCTGGCCCCAGCTTTCCTTCTCACATGATGTGGCTGCCTTGGGGGTTTCAGTGCCGCCTTCACCTGATCCTCCACTCCCTTCCCTCCCATGCTGACACTGAATTCTTGTCTCTTCTGGCAGCGGGACACAGCTGGTGATGCCTCTGAGTCAGCTCTGCTCAAGTGCATTGAGCTCTCCTGTGGCTCAGTGAGGAAAATGAGAGACAGAAACCCCAAGGTGGCAGAGATTCCTTTCAACTCTACCAACAAGTACCAGGTCTGCTTGGGTTGCCAGGACAGAGGAAGAGAGAGGGATATAAATGGGTGAGGGTGGACAAAGCCAAGGGGAATCATCACTAGCAGGAGTGGGGGTGTCTGAGGGTCATGTTCCCTCCCCCTGCTAAGTCCCCCAGGACAGCTCATATGACTGCATGTCTGATTGCAACTAGCCCCAGCTCCCAAACCTTACTCCATCCCTTACTACAATCTGTCACTCTCTCAACTCTTCTTCCCATAGCTCCGCATCCTCTGGCCTAGCCTTCCAACTCTTCTACCCCAGTCAGTGAAACCATAATTCTGTAATTCCTTTATGGTGCCCCTTAGCCTTTAGGCACCTGTTAAATGCCAAGAATGCAATCTCAGCATTCCTTATTATCCATAGAGGTAAAGCCCCCTGAGGCCAGGTGGTGGTGGGGATGCTGAGGAGGGAGCCGTTCAGCCCCTAGCACAGTGCCTGTCTTAACCTGACCTCAATAAATATTTGTTGAATGAAAGACTGTCCTACGGAGGTGGCTCTCAGGTTACAAGTGTTGGAACTGTGAGGTCTAAACACCCCCCTGCACAAGGAGATTCTCTTTGTTGACAATCTTTGATGGGTTGGGGCTACTTTTCTAAGGTGGTTTCCTTACCAGCTGCTGCTCTATGCCGCGCTACCAAGACAAGTATGGCCCTCTCTGTAACTACCTGTTGTCTCTCCAGCTGTCTATCCACGAGCGAGAAGACAGCCCCCAGAGCCACGTGCTGGTGATGAAGGGGGCCCCAGAGCGCATTCTGGACCGGTGCTCCACCATCCTGGTGCAGGGCAAGGAGATCCCGCTCGACAAGGAGATGCAAGATGCCTTTCAAAATGCCTACATGGAGCTGGGGGGACTTGGGGAGCATGTGCTGGGTGAGAGGCCAGAAACAGGAGGCTCAGAAGGGGATTCCCAAGCCTCTGCGGCATCCCTGGGGTGGGGGACTGTGGGGGCGTCCAGGAAGCCACTCTGCGGATCTCACTGATCCCTTCTGCCCCCCTTTAGGATTCTGTCAACTGAATCTGCCATCTGGAAAGTTTCCTCGGGGCTTCAAATTCGACACGGATGAGCTGAACTTTCCCACGGAGAAGCTTTGCTTTGTGGGGCTCATGTCTATGATTGACCCTCCCCGGGCTGCTGTGCCAGATGCTGTGGGCAAGTGCCGAAGCGCAGGCATCAAGGTACTGGCCTCCCATCCTCCCCTCCATTCTAGCCTCCCCCATGCCAGAGTTCAAGGAGCTGCAGTGGCTGCTGCCCTGGAAAGGCCCAGGCCACGGTGGCCTCCTTCCCACTGACTCAGAGAAGAAGCTGTCCATCTGCAAGGAAAGGCCCACCCCTGCCTTGGGGCACTCACCCTTATCCCTTTTGCTCAGAGAGGCCAGTGTCCCATGCCCCTCCTCTCCCTCCCTGGCACAGCTCTTTGTCCCATCTGCATGTGTACCCTTCCATTCTGATTTGAAGCATAATCTGGCACTCCTATCTTGAAGACCTAGTTGTCCTACCCTTCCCAACTACTGCCCACCCTCTCTGTCAACTTAGGATGGGATTAGCAGGCTCTTGTATGCTCCCAGTGGCTCAGCCCATAACCCCACAGAATGCCTCCCACTCAAGGTTCTCTTGTTCAACTACAATTGCTTCTCACTGACCACTCCCTCCTCTGTGCTATGTTTGTTCTTCATTCAACAAATATTTACTGTTTACTATGTTTCAGACACTGTGCAAGGTGCAAACTCTAGCACCTTGCACAGTGCCTGATACATAGTAAACAATTTGTGTCACATGACACATCTAGATGGGACAATGAGCTGTGCCAGGGAGGACACATATAAATCAGGCACTATTCTAAGCACTAAACCTCTATGATTTCATTTAATCTACGCAACAACCCTGTGAATAAGCACCAGTATTTTTCCTTTTTTACAAAGAGGGAAACTGAGGCACAAAGTAACATGCCAAGGCCACACAGCTAGTGTAAGTCATAGAGCAGGTACTTGAACCAAGGCAGTCTGCTATTTCTTAACTATCATACCAGGAGACTTGTTTCTGTGGGTGTATGTGGTTTCTGAACCCCATAACCACTCTGTCTCCGAGGCAGGCATCATTATCCCTGTTAAAAGTAAAACAAGGCTGGGCACAGTGGCTCATGCCTGTAATCCCAGCACTTTGGGGGGGTCCAAGGCTGGTGGATCACCTGAGATAAGGAGTCCAAGACCAGCCTGGCCAACATGGTGAAACCCCGTCTCTACTGAAAAAAAAATACAAAAATTAGCCACGTGTAGTGGCAGGTGCCTGTAATCCCAGCTCCTTGGGAGGCTGAGGCAGGAGAATCACTTGAACCCGGGAGGCAGAGGTTGCAGTGAGCCGAGATTAGGCCACTGCACTCCAGCCTAGGCGACAAGAGCAAGACTCCATCTCAAAAAAAAAAAAAAAGTAAAACAAATGGAAACTGCAAGTGGGTAAGTCTTTTCCCCAAAATAAAACCACCAGTAAGTGATGGACTGGGACTATGAAGCATGATCTGCTTGACCGGAAAGCCTGAGCTCCTGCTGCTTGGCCAGGTGCCTCTCTCTGTGATCAGAACCATCACGGAGGCCTGGGCAGAGGACCTCTATGGGAAGTCAGCTCAGGGAAGCATTAATTCTGCCTCAGAGAACTGGACGATGTTTGACAAAAGGAATGATATTTGAGCTGGGCTTTGGAGGTCAAAGAGTATTCTGCAAAGCAGTGAGGGAGAGGAAGGCATGTCAAGATCAGGGAACAGTGTGTACCCTGGCGTGGCTAGACTGTACGGAGCGTGTGTAGGGGTTGGCAGGGGAGAGGTGGCAAGGAGTACTGGGGGTTGAGACTGGAACACTGGGTCAGAGCCAGTTGGAAGGACTTGGCTTAAATGCCAGACTTGGGCTTTATCCTGCAG
Task1_train_1943
This alteration occurs within gene ATP1A2 (ATPase Na+/K+ transporting subunit alpha 2) located on Chromosome 1. Is it associated with a disease or is it a benign variant?
Pathogenic; Migraine, familial hemiplegic, 2
TGTGATGTGTCACTATCCTGGTTCGCCTCTCCTCTGTCCCTTCCTGCTCCCCCTACACTGATTCTCAGGCCTCAGCTGTCTGTTCTTCCTACACCCTGAGCAAGAGCCAATCTCCTCCCAGTTTGCAGTGTCCCTTCTGTGTTGATGACTCAGACATCCCTATGCTCAGCTCTGCTCTGGCCCTCTCTGGAGCTCTAGTCAAACGTCTTAAACCCCCTAATGGGCATTTCATCTTAACAGATACTCATGATCTCAACACATCTAAAATTGAACATTCATTATTTACAGCTAAGTCCCACCCATTCAAGTTAGTGGAGTAGAATCAGGGGAGGAGGAATGGAGCCACGGTCTAGGGTAAGGTTATGGCCATCTCCGGCTTCAGCCTTAACCTTTTTTATTCTCCTCTTTCTCTACCAGGTGTGCCTGACCCTGACAGCCAAGCGCATGGCACGGAAGAACTGCCTGGTGAAGAACCTGGAGGCGGTGGAGACGCTGGGCTCCACGTCCACCATCTGCTCGGACAAGACGGGCACCCTCACCCAGAACCGCATGACCGTCGCCCACATGTGGTTCGACAACCAAATCCATGAGGCTGACACCACCGAAGATCAGTCTGGTGATTGGGTGCTCCAGAGGGGGTGGATAGGATTAGAGGAGGCTGAGGGCAGTGGCGTGGTGGGGTGAGTGGTTGAGATAAAGGCTCTAAAGGGAGCCACGCTCCTGGTTCCCCCTCATTTCCTCCCAGGGGCCACTTTTGACAAACGATCCCCTACGTGGACGGCCCTGTCTCGAATTGCTGGTCTCTGCAACCGCGCCGTCTTCAAGGCAGGACAGGAGAACATCTCCGTGTCTAAGGTAGGGGGTCAGGACACACACCAGGTATGTTTTGGGGGTGTCTCCAAAGCCTCTTGCTGGCCCCAGCTTTCCTTCTCACATGATGTGGCTGCCTTGGGGGTTTCAGTGCCGCCTTCACCTGATCCTCCACTCCCTTCCCTCCCATGCTGACACTGAATTCTTGTCTCTTCTGGCAGCGGGACACAGCTGGTGATGCCTCTGAGTCAGCTCTGCTCAAGTGCATTGAGCTCTCCTGTGGCTCAGTGAGGAAAATGAGAGACAGAAACCCCAAGGTGGCAGAGATTCCTTTCAACTCTACCAACAAGTACCAGGTCTGCTTGGGTTGCCAGGACAGAGGAAGAGAGAGGGATATAAATGGGTGAGGGTGGACAAAGCCAAGGGGAATCATCACTAGCAGGAGTGGGGGTGTCTGAGGGTCATGTTCCCTCCCCCTGCTAAGTCCCCCAGGACAGCTCATATGACTGCATGTCTGATTGCAACTAGCCCCAGCTCCCAAACCTTACTCCATCCCTTACTACAATCTGTCACTCTCTCAACTCTTCTTCCCATAGCTCCGCATCCTCTGGCCTAGCCTTCCAACTCTTCTACCCCAGTCAGTGAAACCATAATTCTGTAATTCCTTTATGGTGCCCCTTAGCCTTTAGGCACCTGTTAAATGCCAAGAATGCAATCTCAGCATTCCTTATTATCCATAGAGGTAAAGCCCCCTGAGGCCAGGTGGTGGTGGGGATGCTGAGGAGGGAGCCGTTCAGCCCCTAGCACAGTGCCTGTCTTAACCTGACCTCAATAAATATTTGTTGAATGAAAGACTGTCCTACGGAGGTGGCTCTCAGGTTACAAGTGTTGGAACTGTGAGGTCTAAACACCCCCCTGCACAAGGAGATTCTCTTTGTTGACAATCTTTGATGGGTTGGGGCTACTTTTCTAAGGTGGTTTCCTTACCAGCTGCTGCTCTATGCCGCGCTACCAAGACAAGTATGGCCCTCTCTGTAACTACCTGTTGTCTCTCCAGCTGTCTATCCACGAGCGAGAAGACAGCCCCCAGAGCCACGTGCTGGTGATGAAGGGGGCCCCAGAGCGCATTCTGGACCGGTGCTCCACCATCCTGGTGCAGGGCAAGGAGATCCCGCTCGACAAGGAGATGCAAGATGCCTTTCAAAATGCCTACATGGAGCTGGGGGGACTTGGGGAGCGTGTGCTGGGTGAGAGGCCAGAAACAGGAGGCTCAGAAGGGGATTCCCAAGCCTCTGCGGCATCCCTGGGGTGGGGGACTGTGGGGGCGTCCAGGAAGCCACTCTGCGGATCTCACTGATCCCTTCTGCCCCCCTTTAGGATTCTGTCAACTGAATCTGCCATCTGGAAAGTTTCCTCGGGGCTTCAAATTCGACACGGATGAGCTGAACTTTCCCACGGAGAAGCTTTGCTTTGTGGGGCTCATGTCTATGATTGACCCTCCCCGGGCTGCTGTGCCAGATGCTGTGGGCAAGTGCCGAAGCGCAGGCATCAAGGTACTGGCCTCCCATCCTCCCCTCCATTCTAGCCTCCCCCATGCCAGAGTTCAAGGAGCTGCAGTGGCTGCTGCCCTGGAAAGGCCCAGGCCACGGTGGCCTCCTTCCCACTGACTCAGAGAAGAAGCTGTCCATCTGCAAGGAAAGGCCCACCCCTGCCTTGGGGCACTCACCCTTATCCCTTTTGCTCAGAGAGGCCAGTGTCCCATGCCCCTCCTCTCCCTCCCTGGCACAGCTCTTTGTCCCATCTGCATGTGTACCCTTCCATTCTGATTTGAAGCATAATCTGGCACTCCTATCTTGAAGACCTAGTTGTCCTACCCTTCCCAACTACTGCCCACCCTCTCTGTCAACTTAGGATGGGATTAGCAGGCTCTTGTATGCTCCCAGTGGCTCAGCCCATAACCCCACAGAATGCCTCCCACTCAAGGTTCTCTTGTTCAACTACAATTGCTTCTCACTGACCACTCCCTCCTCTGTGCTATGTTTGTTCTTCATTCAACAAATATTTACTGTTTACTATGTTTCAGACACTGTGCAAGGTGCAAACTCTAGCACCTTGCACAGTGCCTGATACATAGTAAACAATTTGTGTCACATGACACATCTAGATGGGACAATGAGCTGTGCCAGGGAGGACACATATAAATCAGGCACTATTCTAAGCACTAAACCTCTATGATTTCATTTAATCTACGCAACAACCCTGTGAATAAGCACCAGTATTTTTCCTTTTTTACAAAGAGGGAAACTGAGGCACAAAGTAACATGCCAAGGCCACACAGCTAGTGTAAGTCATAGAGCAGGTACTTGAACCAAGGCAGTCTGCTATTTCTTAACTATCATACCAGGAGACTTGTTTCTGTGGGTGTATGTGGTTTCTGAACCCCATAACCACTCTGTCTCCGAGGCAGGCATCATTATCCCTGTTAAAAGTAAAACAAGGCTGGGCACAGTGGCTCATGCCTGTAATCCCAGCACTTTGGGGGGGTCCAAGGCTGGTGGATCACCTGAGATAAGGAGTCCAAGACCAGCCTGGCCAACATGGTGAAACCCCGTCTCTACTGAAAAAAAAATACAAAAATTAGCCACGTGTAGTGGCAGGTGCCTGTAATCCCAGCTCCTTGGGAGGCTGAGGCAGGAGAATCACTTGAACCCGGGAGGCAGAGGTTGCAGTGAGCCGAGATTAGGCCACTGCACTCCAGCCTAGGCGACAAGAGCAAGACTCCATCTCAAAAAAAAAAAAAAAGTAAAACAAATGGAAACTGCAAGTGGGTAAGTCTTTTCCCCAAAATAAAACCACCAGTAAGTGATGGACTGGGACTATGAAGCATGATCTGCTTGACCGGAAAGCCTGAGCTCCTGCTGCTTGGCCAGGTGCCTCTCTCTGTGATCAGAACCATCACGGAGGCCTGGGCAGAGGACCTCTATGGGAAGTCAGCTCAGGGAAGCATTAATTCTGCCTCAGAGAACTGGACGATGTTTGACAAAAGGAATGATATTTGAGCTGGGCTTTGGAGGTCAAAGAGTATTCTGCAAAGCAGTGAGGGAGAGGAAGGCATGTCAAGATCAGGGAACAGTGTGTACCCTGGCGTGGCTAGACTGTACGGAGCGTGTGTAGGGGTTGGCAGGGGAGAGGTGGCAAGGAGTACTGGGGGTTGAGACTGGAACACTGGGTCAGAGCCAGTTGGAAGGACTTGGCTTAAATGCCAGACTTGGGCTTTATCCTGCAG
TGTGATGTGTCACTATCCTGGTTCGCCTCTCCTCTGTCCCTTCCTGCTCCCCCTACACTGATTCTCAGGCCTCAGCTGTCTGTTCTTCCTACACCCTGAGCAAGAGCCAATCTCCTCCCAGTTTGCAGTGTCCCTTCTGTGTTGATGACTCAGACATCCCTATGCTCAGCTCTGCTCTGGCCCTCTCTGGAGCTCTAGTCAAACGTCTTAAACCCCCTAATGGGCATTTCATCTTAACAGATACTCATGATCTCAACACATCTAAAATTGAACATTCATTATTTACAGCTAAGTCCCACCCATTCAAGTTAGTGGAGTAGAATCAGGGGAGGAGGAATGGAGCCACGGTCTAGGGTAAGGTTATGGCCATCTCCGGCTTCAGCCTTAACCTTTTTTATTCTCCTCTTTCTCTACCAGGTGTGCCTGACCCTGACAGCCAAGCGCATGGCACGGAAGAACTGCCTGGTGAAGAACCTGGAGGCGGTGGAGACGCTGGGCTCCACGTCCACCATCTGCTCGGACAAGACGGGCACCCTCACCCAGAACCGCATGACCGTCGCCCACATGTGGTTCGACAACCAAATCCATGAGGCTGACACCACCGAAGATCAGTCTGGTGATTGGGTGCTCCAGAGGGGGTGGATAGGATTAGAGGAGGCTGAGGGCAGTGGCGTGGTGGGGTGAGTGGTTGAGATAAAGGCTCTAAAGGGAGCCACGCTCCTGGTTCCCCCTCATTTCCTCCCAGGGGCCACTTTTGACAAACGATCCCCTACGTGGACGGCCCTGTCTCGAATTGCTGGTCTCTGCAACCGCGCCGTCTTCAAGGCAGGACAGGAGAACATCTCCGTGTCTAAGGTAGGGGGTCAGGACACACACCAGGTATGTTTTGGGGGTGTCTCCAAAGCCTCTTGCTGGCCCCAGCTTTCCTTCTCACATGATGTGGCTGCCTTGGGGGTTTCAGTGCCGCCTTCACCTGATCCTCCACTCCCTTCCCTCCCATGCTGACACTGAATTCTTGTCTCTTCTGGCAGCGGGACACAGCTGGTGATGCCTCTGAGTCAGCTCTGCTCAAGTGCATTGAGCTCTCCTGTGGCTCAGTGAGGAAAATGAGAGACAGAAACCCCAAGGTGGCAGAGATTCCTTTCAACTCTACCAACAAGTACCAGGTCTGCTTGGGTTGCCAGGACAGAGGAAGAGAGAGGGATATAAATGGGTGAGGGTGGACAAAGCCAAGGGGAATCATCACTAGCAGGAGTGGGGGTGTCTGAGGGTCATGTTCCCTCCCCCTGCTAAGTCCCCCAGGACAGCTCATATGACTGCATGTCTGATTGCAACTAGCCCCAGCTCCCAAACCTTACTCCATCCCTTACTACAATCTGTCACTCTCTCAACTCTTCTTCCCATAGCTCCGCATCCTCTGGCCTAGCCTTCCAACTCTTCTACCCCAGTCAGTGAAACCATAATTCTGTAATTCCTTTATGGTGCCCCTTAGCCTTTAGGCACCTGTTAAATGCCAAGAATGCAATCTCAGCATTCCTTATTATCCATAGAGGTAAAGCCCCCTGAGGCCAGGTGGTGGTGGGGATGCTGAGGAGGGAGCCGTTCAGCCCCTAGCACAGTGCCTGTCTTAACCTGACCTCAATAAATATTTGTTGAATGAAAGACTGTCCTACGGAGGTGGCTCTCAGGTTACAAGTGTTGGAACTGTGAGGTCTAAACACCCCCCTGCACAAGGAGATTCTCTTTGTTGACAATCTTTGATGGGTTGGGGCTACTTTTCTAAGGTGGTTTCCTTACCAGCTGCTGCTCTATGCCGCGCTACCAAGACAAGTATGGCCCTCTCTGTAACTACCTGTTGTCTCTCCAGCTGTCTATCCACGAGCGAGAAGACAGCCCCCAGAGCCACGTGCTGGTGATGAAGGGGGCCCCAGAGCGCATTCTGGACCGGTGCTCCACCATCCTGGTGCAGGGCAAGGAGATCCCGCTCGACAAGGAGATGCAAGATGCCTTTCAAAATGCCTACATGGAGCTGGGGGGACTTGGGGAGCATGTGCTGGGTGAGAGGCCAGAAACAGGAGGCTCAGAAGGGGATTCCCAAGCCTCTGCGGCATCCCTGGGGTGGGGGACTGTGGGGGCGTCCAGGAAGCCACTCTGCGGATCTCACTGATCCCTTCTGCCCCCCTTTAGGATTCTGTCAACTGAATCTGCCATCTGGAAAGTTTCCTCGGGGCTTCAAATTCGACACGGATGAGCTGAACTTTCCCACGGAGAAGCTTTGCTTTGTGGGGCTCATGTCTATGATTGACCCTCCCCGGGCTGCTGTGCCAGATGCTGTGGGCAAGTGCCGAAGCGCAGGCATCAAGGTACTGGCCTCCCATCCTCCCCTCCATTCTAGCCTCCCCCATGCCAGAGTTCAAGGAGCTGCAGTGGCTGCTGCCCTGGAAAGGCCCAGGCCACGGTGGCCTCCTTCCCACTGACTCAGAGAAGAAGCTGTCCATCTGCAAGGAAAGGCCCACCCCTGCCTTGGGGCACTCACCCTTATCCCTTTTGCTCAGAGAGGCCAGTGTCCCATGCCCCTCCTCTCCCTCCCTGGCACAGCTCTTTGTCCCATCTGCATGTGTACCCTTCCATTCTGATTTGAAGCATAATCTGGCACTCCTATCTTGAAGACCTAGTTGTCCTACCCTTCCCAACTACTGCCCACCCTCTCTGTCAACTTAGGATGGGATTAGCAGGCTCTTGTATGCTCCCAGTGGCTCAGCCCATAACCCCACAGAATGCCTCCCACTCAAGGTTCTCTTGTTCAACTACAATTGCTTCTCACTGACCACTCCCTCCTCTGTGCTATGTTTGTTCTTCATTCAACAAATATTTACTGTTTACTATGTTTCAGACACTGTGCAAGGTGCAAACTCTAGCACCTTGCACAGTGCCTGATACATAGTAAACAATTTGTGTCACATGACACATCTAGATGGGACAATGAGCTGTGCCAGGGAGGACACATATAAATCAGGCACTATTCTAAGCACTAAACCTCTATGATTTCATTTAATCTACGCAACAACCCTGTGAATAAGCACCAGTATTTTTCCTTTTTTACAAAGAGGGAAACTGAGGCACAAAGTAACATGCCAAGGCCACACAGCTAGTGTAAGTCATAGAGCAGGTACTTGAACCAAGGCAGTCTGCTATTTCTTAACTATCATACCAGGAGACTTGTTTCTGTGGGTGTATGTGGTTTCTGAACCCCATAACCACTCTGTCTCCGAGGCAGGCATCATTATCCCTGTTAAAAGTAAAACAAGGCTGGGCACAGTGGCTCATGCCTGTAATCCCAGCACTTTGGGGGGGTCCAAGGCTGGTGGATCACCTGAGATAAGGAGTCCAAGACCAGCCTGGCCAACATGGTGAAACCCCGTCTCTACTGAAAAAAAAATACAAAAATTAGCCACGTGTAGTGGCAGGTGCCTGTAATCCCAGCTCCTTGGGAGGCTGAGGCAGGAGAATCACTTGAACCCGGGAGGCAGAGGTTGCAGTGAGCCGAGATTAGGCCACTGCACTCCAGCCTAGGCGACAAGAGCAAGACTCCATCTCAAAAAAAAAAAAAAAGTAAAACAAATGGAAACTGCAAGTGGGTAAGTCTTTTCCCCAAAATAAAACCACCAGTAAGTGATGGACTGGGACTATGAAGCATGATCTGCTTGACCGGAAAGCCTGAGCTCCTGCTGCTTGGCCAGGTGCCTCTCTCTGTGATCAGAACCATCACGGAGGCCTGGGCAGAGGACCTCTATGGGAAGTCAGCTCAGGGAAGCATTAATTCTGCCTCAGAGAACTGGACGATGTTTGACAAAAGGAATGATATTTGAGCTGGGCTTTGGAGGTCAAAGAGTATTCTGCAAAGCAGTGAGGGAGAGGAAGGCATGTCAAGATCAGGGAACAGTGTGTACCCTGGCGTGGCTAGACTGTACGGAGCGTGTGTAGGGGTTGGCAGGGGAGAGGTGGCAAGGAGTACTGGGGGTTGAGACTGGAACACTGGGTCAGAGCCAGTTGGAAGGACTTGGCTTAAATGCCAGACTTGGGCTTTATCCTGCAG
Task1_train_1944
With a mutation on Chromosome 1 in gene ATP1A2 (ATPase Na+/K+ transporting subunit alpha 2), classify this variant as benign or pathogenic. Include the disease if it's pathogenic.
Pathogenic; Inborn genetic diseases
AATTGAACATTCATTATTTACAGCTAAGTCCCACCCATTCAAGTTAGTGGAGTAGAATCAGGGGAGGAGGAATGGAGCCACGGTCTAGGGTAAGGTTATGGCCATCTCCGGCTTCAGCCTTAACCTTTTTTATTCTCCTCTTTCTCTACCAGGTGTGCCTGACCCTGACAGCCAAGCGCATGGCACGGAAGAACTGCCTGGTGAAGAACCTGGAGGCGGTGGAGACGCTGGGCTCCACGTCCACCATCTGCTCGGACAAGACGGGCACCCTCACCCAGAACCGCATGACCGTCGCCCACATGTGGTTCGACAACCAAATCCATGAGGCTGACACCACCGAAGATCAGTCTGGTGATTGGGTGCTCCAGAGGGGGTGGATAGGATTAGAGGAGGCTGAGGGCAGTGGCGTGGTGGGGTGAGTGGTTGAGATAAAGGCTCTAAAGGGAGCCACGCTCCTGGTTCCCCCTCATTTCCTCCCAGGGGCCACTTTTGACAAACGATCCCCTACGTGGACGGCCCTGTCTCGAATTGCTGGTCTCTGCAACCGCGCCGTCTTCAAGGCAGGACAGGAGAACATCTCCGTGTCTAAGGTAGGGGGTCAGGACACACACCAGGTATGTTTTGGGGGTGTCTCCAAAGCCTCTTGCTGGCCCCAGCTTTCCTTCTCACATGATGTGGCTGCCTTGGGGGTTTCAGTGCCGCCTTCACCTGATCCTCCACTCCCTTCCCTCCCATGCTGACACTGAATTCTTGTCTCTTCTGGCAGCGGGACACAGCTGGTGATGCCTCTGAGTCAGCTCTGCTCAAGTGCATTGAGCTCTCCTGTGGCTCAGTGAGGAAAATGAGAGACAGAAACCCCAAGGTGGCAGAGATTCCTTTCAACTCTACCAACAAGTACCAGGTCTGCTTGGGTTGCCAGGACAGAGGAAGAGAGAGGGATATAAATGGGTGAGGGTGGACAAAGCCAAGGGGAATCATCACTAGCAGGAGTGGGGGTGTCTGAGGGTCATGTTCCCTCCCCCTGCTAAGTCCCCCAGGACAGCTCATATGACTGCATGTCTGATTGCAACTAGCCCCAGCTCCCAAACCTTACTCCATCCCTTACTACAATCTGTCACTCTCTCAACTCTTCTTCCCATAGCTCCGCATCCTCTGGCCTAGCCTTCCAACTCTTCTACCCCAGTCAGTGAAACCATAATTCTGTAATTCCTTTATGGTGCCCCTTAGCCTTTAGGCACCTGTTAAATGCCAAGAATGCAATCTCAGCATTCCTTATTATCCATAGAGGTAAAGCCCCCTGAGGCCAGGTGGTGGTGGGGATGCTGAGGAGGGAGCCGTTCAGCCCCTAGCACAGTGCCTGTCTTAACCTGACCTCAATAAATATTTGTTGAATGAAAGACTGTCCTACGGAGGTGGCTCTCAGGTTACAAGTGTTGGAACTGTGAGGTCTAAACACCCCCCTGCACAAGGAGATTCTCTTTGTTGACAATCTTTGATGGGTTGGGGCTACTTTTCTAAGGTGGTTTCCTTACCAGCTGCTGCTCTATGCCGCGCTACCAAGACAAGTATGGCCCTCTCTGTAACTACCTGTTGTCTCTCCAGCTGTCTATCCACGAGCGAGAAGACAGCCCCCAGAGCCACGTGCTGGTGATGAAGGGGGCCCCAGAGCGCATTCTGGACCGGTGCTCCACCATCCTGGTGCAGGGCAAGGAGATCCCGCTCGACAAGGAGATGCAAGATGCCTTTCAAAATGCCTACATGGAGCTGGGGGGACTTGGGGAGCGTGTGCTGGGTGAGAGGCCAGAAACAGGAGGCTCAGAAGGGGATTCCCAAGCCTCTGCGGCATCCCTGGGGTGGGGGACTGTGGGGGCGTCCAGGAAGCCACTCTGCGGATCTCACTGATCCCTTCTGCCCCCCTTTAGGATTCTGTCAACTGAATCTGCCATCTGGAAAGTTTCCTCGGGGCTTCAAATTCGACACGGATGAGCTGAACTTTCCCACGGAGAAGCTTTGCTTTGTGGGGCTCATGTCTATGATTGACCCTCCCCGGGCTGCTGTGCCAGATGCTGTGGGCAAGTGCCGAAGCGCAGGCATCAAGGTACTGGCCTCCCATCCTCCCCTCCATTCTAGCCTCCCCCATGCCAGAGTTCAAGGAGCTGCAGTGGCTGCTGCCCTGGAAAGGCCCAGGCCACGGTGGCCTCCTTCCCACTGACTCAGAGAAGAAGCTGTCCATCTGCAAGGAAAGGCCCACCCCTGCCTTGGGGCACTCACCCTTATCCCTTTTGCTCAGAGAGGCCAGTGTCCCATGCCCCTCCTCTCCCTCCCTGGCACAGCTCTTTGTCCCATCTGCATGTGTACCCTTCCATTCTGATTTGAAGCATAATCTGGCACTCCTATCTTGAAGACCTAGTTGTCCTACCCTTCCCAACTACTGCCCACCCTCTCTGTCAACTTAGGATGGGATTAGCAGGCTCTTGTATGCTCCCAGTGGCTCAGCCCATAACCCCACAGAATGCCTCCCACTCAAGGTTCTCTTGTTCAACTACAATTGCTTCTCACTGACCACTCCCTCCTCTGTGCTATGTTTGTTCTTCATTCAACAAATATTTACTGTTTACTATGTTTCAGACACTGTGCAAGGTGCAAACTCTAGCACCTTGCACAGTGCCTGATACATAGTAAACAATTTGTGTCACATGACACATCTAGATGGGACAATGAGCTGTGCCAGGGAGGACACATATAAATCAGGCACTATTCTAAGCACTAAACCTCTATGATTTCATTTAATCTACGCAACAACCCTGTGAATAAGCACCAGTATTTTTCCTTTTTTACAAAGAGGGAAACTGAGGCACAAAGTAACATGCCAAGGCCACACAGCTAGTGTAAGTCATAGAGCAGGTACTTGAACCAAGGCAGTCTGCTATTTCTTAACTATCATACCAGGAGACTTGTTTCTGTGGGTGTATGTGGTTTCTGAACCCCATAACCACTCTGTCTCCGAGGCAGGCATCATTATCCCTGTTAAAAGTAAAACAAGGCTGGGCACAGTGGCTCATGCCTGTAATCCCAGCACTTTGGGGGGGTCCAAGGCTGGTGGATCACCTGAGATAAGGAGTCCAAGACCAGCCTGGCCAACATGGTGAAACCCCGTCTCTACTGAAAAAAAAATACAAAAATTAGCCACGTGTAGTGGCAGGTGCCTGTAATCCCAGCTCCTTGGGAGGCTGAGGCAGGAGAATCACTTGAACCCGGGAGGCAGAGGTTGCAGTGAGCCGAGATTAGGCCACTGCACTCCAGCCTAGGCGACAAGAGCAAGACTCCATCTCAAAAAAAAAAAAAAAGTAAAACAAATGGAAACTGCAAGTGGGTAAGTCTTTTCCCCAAAATAAAACCACCAGTAAGTGATGGACTGGGACTATGAAGCATGATCTGCTTGACCGGAAAGCCTGAGCTCCTGCTGCTTGGCCAGGTGCCTCTCTCTGTGATCAGAACCATCACGGAGGCCTGGGCAGAGGACCTCTATGGGAAGTCAGCTCAGGGAAGCATTAATTCTGCCTCAGAGAACTGGACGATGTTTGACAAAAGGAATGATATTTGAGCTGGGCTTTGGAGGTCAAAGAGTATTCTGCAAAGCAGTGAGGGAGAGGAAGGCATGTCAAGATCAGGGAACAGTGTGTACCCTGGCGTGGCTAGACTGTACGGAGCGTGTGTAGGGGTTGGCAGGGGAGAGGTGGCAAGGAGTACTGGGGGTTGAGACTGGAACACTGGGTCAGAGCCAGTTGGAAGGACTTGGCTTAAATGCCAGACTTGGGCTTTATCCTGCAGGCCACAGAGAGCCATCAGTGTCACGGGGGAGGTTGAGCTTTTAGGAGACTACCTGGTTTGAGGAGGGACTGGATTTGGGGAAGAACTGGAGTCAGGGAGAGACAGGTTAAGAGGCCATTGCCATAGTTCAGGCAAAGAATGATGACCTGAACTAGGGCAGAAACAAAGGGAATGGAGAGGAATAGCCATGTCTGAGAAATGTTTTGAGAACTTGGTGACCAAACTGGATATGGAAGGTGAGGAAGATACAGGAGAGAAGGGGACA
AATTGAACATTCATTATTTACAGCTAAGTCCCACCCATTCAAGTTAGTGGAGTAGAATCAGGGGAGGAGGAATGGAGCCACGGTCTAGGGTAAGGTTATGGCCATCTCCGGCTTCAGCCTTAACCTTTTTTATTCTCCTCTTTCTCTACCAGGTGTGCCTGACCCTGACAGCCAAGCGCATGGCACGGAAGAACTGCCTGGTGAAGAACCTGGAGGCGGTGGAGACGCTGGGCTCCACGTCCACCATCTGCTCGGACAAGACGGGCACCCTCACCCAGAACCGCATGACCGTCGCCCACATGTGGTTCGACAACCAAATCCATGAGGCTGACACCACCGAAGATCAGTCTGGTGATTGGGTGCTCCAGAGGGGGTGGATAGGATTAGAGGAGGCTGAGGGCAGTGGCGTGGTGGGGTGAGTGGTTGAGATAAAGGCTCTAAAGGGAGCCACGCTCCTGGTTCCCCCTCATTTCCTCCCAGGGGCCACTTTTGACAAACGATCCCCTACGTGGACGGCCCTGTCTCGAATTGCTGGTCTCTGCAACCGCGCCGTCTTCAAGGCAGGACAGGAGAACATCTCCGTGTCTAAGGTAGGGGGTCAGGACACACACCAGGTATGTTTTGGGGGTGTCTCCAAAGCCTCTTGCTGGCCCCAGCTTTCCTTCTCACATGATGTGGCTGCCTTGGGGGTTTCAGTGCCGCCTTCACCTGATCCTCCACTCCCTTCCCTCCCATGCTGACACTGAATTCTTGTCTCTTCTGGCAGCGGGACACAGCTGGTGATGCCTCTGAGTCAGCTCTGCTCAAGTGCATTGAGCTCTCCTGTGGCTCAGTGAGGAAAATGAGAGACAGAAACCCCAAGGTGGCAGAGATTCCTTTCAACTCTACCAACAAGTACCAGGTCTGCTTGGGTTGCCAGGACAGAGGAAGAGAGAGGGATATAAATGGGTGAGGGTGGACAAAGCCAAGGGGAATCATCACTAGCAGGAGTGGGGGTGTCTGAGGGTCATGTTCCCTCCCCCTGCTAAGTCCCCCAGGACAGCTCATATGACTGCATGTCTGATTGCAACTAGCCCCAGCTCCCAAACCTTACTCCATCCCTTACTACAATCTGTCACTCTCTCAACTCTTCTTCCCATAGCTCCGCATCCTCTGGCCTAGCCTTCCAACTCTTCTACCCCAGTCAGTGAAACCATAATTCTGTAATTCCTTTATGGTGCCCCTTAGCCTTTAGGCACCTGTTAAATGCCAAGAATGCAATCTCAGCATTCCTTATTATCCATAGAGGTAAAGCCCCCTGAGGCCAGGTGGTGGTGGGGATGCTGAGGAGGGAGCCGTTCAGCCCCTAGCACAGTGCCTGTCTTAACCTGACCTCAATAAATATTTGTTGAATGAAAGACTGTCCTACGGAGGTGGCTCTCAGGTTACAAGTGTTGGAACTGTGAGGTCTAAACACCCCCCTGCACAAGGAGATTCTCTTTGTTGACAATCTTTGATGGGTTGGGGCTACTTTTCTAAGGTGGTTTCCTTACCAGCTGCTGCTCTATGCCGCGCTACCAAGACAAGTATGGCCCTCTCTGTAACTACCTGTTGTCTCTCCAGCTGTCTATCCACGAGCGAGAAGACAGCCCCCAGAGCCACGTGCTGGTGATGAAGGGGGCCCCAGAGCGCATTCTGGACCGGTGCTCCACCATCCTGGTGCAGGGCAAGGAGATCCCGCTCGACAAGGAGATGCAAGATGCCTTTCAAAATGCCTACATGGAGCTGGGGGGACTTGGGGAGCGTGTGCTGGGTGAGAGGCCAGAAACAGGAGGCTCAGAAGGGGATTCCCAAGCCTCTGCGGCATCCCTGGGGTGGGGGACTGTGGGGGCGTCCAGGAAGCCACTCTGCGGATCTCACTGATCCCTTCTGCCCCCCTTTAGGATTCTGTCAACTGAATCTGCCATCTGGAAAGTTTCCTCGGGGCTTCAAATTCGACACGGATGAGCTGAACTTTCCCACGGAGAAGCTTTGCTTTGTGGGGCTCATGTCTATGATTGACCCTCCCCAGGCTGCTGTGCCAGATGCTGTGGGCAAGTGCCGAAGCGCAGGCATCAAGGTACTGGCCTCCCATCCTCCCCTCCATTCTAGCCTCCCCCATGCCAGAGTTCAAGGAGCTGCAGTGGCTGCTGCCCTGGAAAGGCCCAGGCCACGGTGGCCTCCTTCCCACTGACTCAGAGAAGAAGCTGTCCATCTGCAAGGAAAGGCCCACCCCTGCCTTGGGGCACTCACCCTTATCCCTTTTGCTCAGAGAGGCCAGTGTCCCATGCCCCTCCTCTCCCTCCCTGGCACAGCTCTTTGTCCCATCTGCATGTGTACCCTTCCATTCTGATTTGAAGCATAATCTGGCACTCCTATCTTGAAGACCTAGTTGTCCTACCCTTCCCAACTACTGCCCACCCTCTCTGTCAACTTAGGATGGGATTAGCAGGCTCTTGTATGCTCCCAGTGGCTCAGCCCATAACCCCACAGAATGCCTCCCACTCAAGGTTCTCTTGTTCAACTACAATTGCTTCTCACTGACCACTCCCTCCTCTGTGCTATGTTTGTTCTTCATTCAACAAATATTTACTGTTTACTATGTTTCAGACACTGTGCAAGGTGCAAACTCTAGCACCTTGCACAGTGCCTGATACATAGTAAACAATTTGTGTCACATGACACATCTAGATGGGACAATGAGCTGTGCCAGGGAGGACACATATAAATCAGGCACTATTCTAAGCACTAAACCTCTATGATTTCATTTAATCTACGCAACAACCCTGTGAATAAGCACCAGTATTTTTCCTTTTTTACAAAGAGGGAAACTGAGGCACAAAGTAACATGCCAAGGCCACACAGCTAGTGTAAGTCATAGAGCAGGTACTTGAACCAAGGCAGTCTGCTATTTCTTAACTATCATACCAGGAGACTTGTTTCTGTGGGTGTATGTGGTTTCTGAACCCCATAACCACTCTGTCTCCGAGGCAGGCATCATTATCCCTGTTAAAAGTAAAACAAGGCTGGGCACAGTGGCTCATGCCTGTAATCCCAGCACTTTGGGGGGGTCCAAGGCTGGTGGATCACCTGAGATAAGGAGTCCAAGACCAGCCTGGCCAACATGGTGAAACCCCGTCTCTACTGAAAAAAAAATACAAAAATTAGCCACGTGTAGTGGCAGGTGCCTGTAATCCCAGCTCCTTGGGAGGCTGAGGCAGGAGAATCACTTGAACCCGGGAGGCAGAGGTTGCAGTGAGCCGAGATTAGGCCACTGCACTCCAGCCTAGGCGACAAGAGCAAGACTCCATCTCAAAAAAAAAAAAAAAGTAAAACAAATGGAAACTGCAAGTGGGTAAGTCTTTTCCCCAAAATAAAACCACCAGTAAGTGATGGACTGGGACTATGAAGCATGATCTGCTTGACCGGAAAGCCTGAGCTCCTGCTGCTTGGCCAGGTGCCTCTCTCTGTGATCAGAACCATCACGGAGGCCTGGGCAGAGGACCTCTATGGGAAGTCAGCTCAGGGAAGCATTAATTCTGCCTCAGAGAACTGGACGATGTTTGACAAAAGGAATGATATTTGAGCTGGGCTTTGGAGGTCAAAGAGTATTCTGCAAAGCAGTGAGGGAGAGGAAGGCATGTCAAGATCAGGGAACAGTGTGTACCCTGGCGTGGCTAGACTGTACGGAGCGTGTGTAGGGGTTGGCAGGGGAGAGGTGGCAAGGAGTACTGGGGGTTGAGACTGGAACACTGGGTCAGAGCCAGTTGGAAGGACTTGGCTTAAATGCCAGACTTGGGCTTTATCCTGCAGGCCACAGAGAGCCATCAGTGTCACGGGGGAGGTTGAGCTTTTAGGAGACTACCTGGTTTGAGGAGGGACTGGATTTGGGGAAGAACTGGAGTCAGGGAGAGACAGGTTAAGAGGCCATTGCCATAGTTCAGGCAAAGAATGATGACCTGAACTAGGGCAGAAACAAAGGGAATGGAGAGGAATAGCCATGTCTGAGAAATGTTTTGAGAACTTGGTGACCAAACTGGATATGGAAGGTGAGGAAGATACAGGAGAGAAGGGGACA
Task1_train_1945
Consider a variant on Chromosome 1 in gene ATP1A2 (ATPase Na+/K+ transporting subunit alpha 2). Determine its clinical classification and disease relevance.
Pathogenic; Familial hemiplegic migraine
AATTGAACATTCATTATTTACAGCTAAGTCCCACCCATTCAAGTTAGTGGAGTAGAATCAGGGGAGGAGGAATGGAGCCACGGTCTAGGGTAAGGTTATGGCCATCTCCGGCTTCAGCCTTAACCTTTTTTATTCTCCTCTTTCTCTACCAGGTGTGCCTGACCCTGACAGCCAAGCGCATGGCACGGAAGAACTGCCTGGTGAAGAACCTGGAGGCGGTGGAGACGCTGGGCTCCACGTCCACCATCTGCTCGGACAAGACGGGCACCCTCACCCAGAACCGCATGACCGTCGCCCACATGTGGTTCGACAACCAAATCCATGAGGCTGACACCACCGAAGATCAGTCTGGTGATTGGGTGCTCCAGAGGGGGTGGATAGGATTAGAGGAGGCTGAGGGCAGTGGCGTGGTGGGGTGAGTGGTTGAGATAAAGGCTCTAAAGGGAGCCACGCTCCTGGTTCCCCCTCATTTCCTCCCAGGGGCCACTTTTGACAAACGATCCCCTACGTGGACGGCCCTGTCTCGAATTGCTGGTCTCTGCAACCGCGCCGTCTTCAAGGCAGGACAGGAGAACATCTCCGTGTCTAAGGTAGGGGGTCAGGACACACACCAGGTATGTTTTGGGGGTGTCTCCAAAGCCTCTTGCTGGCCCCAGCTTTCCTTCTCACATGATGTGGCTGCCTTGGGGGTTTCAGTGCCGCCTTCACCTGATCCTCCACTCCCTTCCCTCCCATGCTGACACTGAATTCTTGTCTCTTCTGGCAGCGGGACACAGCTGGTGATGCCTCTGAGTCAGCTCTGCTCAAGTGCATTGAGCTCTCCTGTGGCTCAGTGAGGAAAATGAGAGACAGAAACCCCAAGGTGGCAGAGATTCCTTTCAACTCTACCAACAAGTACCAGGTCTGCTTGGGTTGCCAGGACAGAGGAAGAGAGAGGGATATAAATGGGTGAGGGTGGACAAAGCCAAGGGGAATCATCACTAGCAGGAGTGGGGGTGTCTGAGGGTCATGTTCCCTCCCCCTGCTAAGTCCCCCAGGACAGCTCATATGACTGCATGTCTGATTGCAACTAGCCCCAGCTCCCAAACCTTACTCCATCCCTTACTACAATCTGTCACTCTCTCAACTCTTCTTCCCATAGCTCCGCATCCTCTGGCCTAGCCTTCCAACTCTTCTACCCCAGTCAGTGAAACCATAATTCTGTAATTCCTTTATGGTGCCCCTTAGCCTTTAGGCACCTGTTAAATGCCAAGAATGCAATCTCAGCATTCCTTATTATCCATAGAGGTAAAGCCCCCTGAGGCCAGGTGGTGGTGGGGATGCTGAGGAGGGAGCCGTTCAGCCCCTAGCACAGTGCCTGTCTTAACCTGACCTCAATAAATATTTGTTGAATGAAAGACTGTCCTACGGAGGTGGCTCTCAGGTTACAAGTGTTGGAACTGTGAGGTCTAAACACCCCCCTGCACAAGGAGATTCTCTTTGTTGACAATCTTTGATGGGTTGGGGCTACTTTTCTAAGGTGGTTTCCTTACCAGCTGCTGCTCTATGCCGCGCTACCAAGACAAGTATGGCCCTCTCTGTAACTACCTGTTGTCTCTCCAGCTGTCTATCCACGAGCGAGAAGACAGCCCCCAGAGCCACGTGCTGGTGATGAAGGGGGCCCCAGAGCGCATTCTGGACCGGTGCTCCACCATCCTGGTGCAGGGCAAGGAGATCCCGCTCGACAAGGAGATGCAAGATGCCTTTCAAAATGCCTACATGGAGCTGGGGGGACTTGGGGAGCGTGTGCTGGGTGAGAGGCCAGAAACAGGAGGCTCAGAAGGGGATTCCCAAGCCTCTGCGGCATCCCTGGGGTGGGGGACTGTGGGGGCGTCCAGGAAGCCACTCTGCGGATCTCACTGATCCCTTCTGCCCCCCTTTAGGATTCTGTCAACTGAATCTGCCATCTGGAAAGTTTCCTCGGGGCTTCAAATTCGACACGGATGAGCTGAACTTTCCCACGGAGAAGCTTTGCTTTGTGGGGCTCATGTCTATGATTGACCCTCCCCGGGCTGCTGTGCCAGATGCTGTGGGCAAGTGCCGAAGCGCAGGCATCAAGGTACTGGCCTCCCATCCTCCCCTCCATTCTAGCCTCCCCCATGCCAGAGTTCAAGGAGCTGCAGTGGCTGCTGCCCTGGAAAGGCCCAGGCCACGGTGGCCTCCTTCCCACTGACTCAGAGAAGAAGCTGTCCATCTGCAAGGAAAGGCCCACCCCTGCCTTGGGGCACTCACCCTTATCCCTTTTGCTCAGAGAGGCCAGTGTCCCATGCCCCTCCTCTCCCTCCCTGGCACAGCTCTTTGTCCCATCTGCATGTGTACCCTTCCATTCTGATTTGAAGCATAATCTGGCACTCCTATCTTGAAGACCTAGTTGTCCTACCCTTCCCAACTACTGCCCACCCTCTCTGTCAACTTAGGATGGGATTAGCAGGCTCTTGTATGCTCCCAGTGGCTCAGCCCATAACCCCACAGAATGCCTCCCACTCAAGGTTCTCTTGTTCAACTACAATTGCTTCTCACTGACCACTCCCTCCTCTGTGCTATGTTTGTTCTTCATTCAACAAATATTTACTGTTTACTATGTTTCAGACACTGTGCAAGGTGCAAACTCTAGCACCTTGCACAGTGCCTGATACATAGTAAACAATTTGTGTCACATGACACATCTAGATGGGACAATGAGCTGTGCCAGGGAGGACACATATAAATCAGGCACTATTCTAAGCACTAAACCTCTATGATTTCATTTAATCTACGCAACAACCCTGTGAATAAGCACCAGTATTTTTCCTTTTTTACAAAGAGGGAAACTGAGGCACAAAGTAACATGCCAAGGCCACACAGCTAGTGTAAGTCATAGAGCAGGTACTTGAACCAAGGCAGTCTGCTATTTCTTAACTATCATACCAGGAGACTTGTTTCTGTGGGTGTATGTGGTTTCTGAACCCCATAACCACTCTGTCTCCGAGGCAGGCATCATTATCCCTGTTAAAAGTAAAACAAGGCTGGGCACAGTGGCTCATGCCTGTAATCCCAGCACTTTGGGGGGGTCCAAGGCTGGTGGATCACCTGAGATAAGGAGTCCAAGACCAGCCTGGCCAACATGGTGAAACCCCGTCTCTACTGAAAAAAAAATACAAAAATTAGCCACGTGTAGTGGCAGGTGCCTGTAATCCCAGCTCCTTGGGAGGCTGAGGCAGGAGAATCACTTGAACCCGGGAGGCAGAGGTTGCAGTGAGCCGAGATTAGGCCACTGCACTCCAGCCTAGGCGACAAGAGCAAGACTCCATCTCAAAAAAAAAAAAAAAGTAAAACAAATGGAAACTGCAAGTGGGTAAGTCTTTTCCCCAAAATAAAACCACCAGTAAGTGATGGACTGGGACTATGAAGCATGATCTGCTTGACCGGAAAGCCTGAGCTCCTGCTGCTTGGCCAGGTGCCTCTCTCTGTGATCAGAACCATCACGGAGGCCTGGGCAGAGGACCTCTATGGGAAGTCAGCTCAGGGAAGCATTAATTCTGCCTCAGAGAACTGGACGATGTTTGACAAAAGGAATGATATTTGAGCTGGGCTTTGGAGGTCAAAGAGTATTCTGCAAAGCAGTGAGGGAGAGGAAGGCATGTCAAGATCAGGGAACAGTGTGTACCCTGGCGTGGCTAGACTGTACGGAGCGTGTGTAGGGGTTGGCAGGGGAGAGGTGGCAAGGAGTACTGGGGGTTGAGACTGGAACACTGGGTCAGAGCCAGTTGGAAGGACTTGGCTTAAATGCCAGACTTGGGCTTTATCCTGCAGGCCACAGAGAGCCATCAGTGTCACGGGGGAGGTTGAGCTTTTAGGAGACTACCTGGTTTGAGGAGGGACTGGATTTGGGGAAGAACTGGAGTCAGGGAGAGACAGGTTAAGAGGCCATTGCCATAGTTCAGGCAAAGAATGATGACCTGAACTAGGGCAGAAACAAAGGGAATGGAGAGGAATAGCCATGTCTGAGAAATGTTTTGAGAACTTGGTGACCAAACTGGATATGGAAGGTGAGGAAGATACAGGAGAGAAGGGGACA
AATTGAACATTCATTATTTACAGCTAAGTCCCACCCATTCAAGTTAGTGGAGTAGAATCAGGGGAGGAGGAATGGAGCCACGGTCTAGGGTAAGGTTATGGCCATCTCCGGCTTCAGCCTTAACCTTTTTTATTCTCCTCTTTCTCTACCAGGTGTGCCTGACCCTGACAGCCAAGCGCATGGCACGGAAGAACTGCCTGGTGAAGAACCTGGAGGCGGTGGAGACGCTGGGCTCCACGTCCACCATCTGCTCGGACAAGACGGGCACCCTCACCCAGAACCGCATGACCGTCGCCCACATGTGGTTCGACAACCAAATCCATGAGGCTGACACCACCGAAGATCAGTCTGGTGATTGGGTGCTCCAGAGGGGGTGGATAGGATTAGAGGAGGCTGAGGGCAGTGGCGTGGTGGGGTGAGTGGTTGAGATAAAGGCTCTAAAGGGAGCCACGCTCCTGGTTCCCCCTCATTTCCTCCCAGGGGCCACTTTTGACAAACGATCCCCTACGTGGACGGCCCTGTCTCGAATTGCTGGTCTCTGCAACCGCGCCGTCTTCAAGGCAGGACAGGAGAACATCTCCGTGTCTAAGGTAGGGGGTCAGGACACACACCAGGTATGTTTTGGGGGTGTCTCCAAAGCCTCTTGCTGGCCCCAGCTTTCCTTCTCACATGATGTGGCTGCCTTGGGGGTTTCAGTGCCGCCTTCACCTGATCCTCCACTCCCTTCCCTCCCATGCTGACACTGAATTCTTGTCTCTTCTGGCAGCGGGACACAGCTGGTGATGCCTCTGAGTCAGCTCTGCTCAAGTGCATTGAGCTCTCCTGTGGCTCAGTGAGGAAAATGAGAGACAGAAACCCCAAGGTGGCAGAGATTCCTTTCAACTCTACCAACAAGTACCAGGTCTGCTTGGGTTGCCAGGACAGAGGAAGAGAGAGGGATATAAATGGGTGAGGGTGGACAAAGCCAAGGGGAATCATCACTAGCAGGAGTGGGGGTGTCTGAGGGTCATGTTCCCTCCCCCTGCTAAGTCCCCCAGGACAGCTCATATGACTGCATGTCTGATTGCAACTAGCCCCAGCTCCCAAACCTTACTCCATCCCTTACTACAATCTGTCACTCTCTCAACTCTTCTTCCCATAGCTCCGCATCCTCTGGCCTAGCCTTCCAACTCTTCTACCCCAGTCAGTGAAACCATAATTCTGTAATTCCTTTATGGTGCCCCTTAGCCTTTAGGCACCTGTTAAATGCCAAGAATGCAATCTCAGCATTCCTTATTATCCATAGAGGTAAAGCCCCCTGAGGCCAGGTGGTGGTGGGGATGCTGAGGAGGGAGCCGTTCAGCCCCTAGCACAGTGCCTGTCTTAACCTGACCTCAATAAATATTTGTTGAATGAAAGACTGTCCTACGGAGGTGGCTCTCAGGTTACAAGTGTTGGAACTGTGAGGTCTAAACACCCCCCTGCACAAGGAGATTCTCTTTGTTGACAATCTTTGATGGGTTGGGGCTACTTTTCTAAGGTGGTTTCCTTACCAGCTGCTGCTCTATGCCGCGCTACCAAGACAAGTATGGCCCTCTCTGTAACTACCTGTTGTCTCTCCAGCTGTCTATCCACGAGCGAGAAGACAGCCCCCAGAGCCACGTGCTGGTGATGAAGGGGGCCCCAGAGCGCATTCTGGACCGGTGCTCCACCATCCTGGTGCAGGGCAAGGAGATCCCGCTCGACAAGGAGATGCAAGATGCCTTTCAAAATGCCTACATGGAGCTGGGGGGACTTGGGGAGCGTGTGCTGGGTGAGAGGCCAGAAACAGGAGGCTCAGAAGGGGATTCCCAAGCCTCTGCGGCATCCCTGGGGTGGGGGACTGTGGGGGCGTCCAGGAAGCCACTCTGCGGATCTCACTGATCCCTTCTGCCCCCCTTTAGGATTCTGTCAACTGAATCTGCCATCTGGAAAGTTTCCTCGGGGCTTCAAATTCGACACGGATGAGCTGAACTTTCCCACGGAGAAGCTTTGCTTTGTGGGGCTCATGTCTATGATTGACCCTCCCCAGGCTGCTGTGCCAGATGCTGTGGGCAAGTGCCGAAGCGCAGGCATCAAGGTACTGGCCTCCCATCCTCCCCTCCATTCTAGCCTCCCCCATGCCAGAGTTCAAGGAGCTGCAGTGGCTGCTGCCCTGGAAAGGCCCAGGCCACGGTGGCCTCCTTCCCACTGACTCAGAGAAGAAGCTGTCCATCTGCAAGGAAAGGCCCACCCCTGCCTTGGGGCACTCACCCTTATCCCTTTTGCTCAGAGAGGCCAGTGTCCCATGCCCCTCCTCTCCCTCCCTGGCACAGCTCTTTGTCCCATCTGCATGTGTACCCTTCCATTCTGATTTGAAGCATAATCTGGCACTCCTATCTTGAAGACCTAGTTGTCCTACCCTTCCCAACTACTGCCCACCCTCTCTGTCAACTTAGGATGGGATTAGCAGGCTCTTGTATGCTCCCAGTGGCTCAGCCCATAACCCCACAGAATGCCTCCCACTCAAGGTTCTCTTGTTCAACTACAATTGCTTCTCACTGACCACTCCCTCCTCTGTGCTATGTTTGTTCTTCATTCAACAAATATTTACTGTTTACTATGTTTCAGACACTGTGCAAGGTGCAAACTCTAGCACCTTGCACAGTGCCTGATACATAGTAAACAATTTGTGTCACATGACACATCTAGATGGGACAATGAGCTGTGCCAGGGAGGACACATATAAATCAGGCACTATTCTAAGCACTAAACCTCTATGATTTCATTTAATCTACGCAACAACCCTGTGAATAAGCACCAGTATTTTTCCTTTTTTACAAAGAGGGAAACTGAGGCACAAAGTAACATGCCAAGGCCACACAGCTAGTGTAAGTCATAGAGCAGGTACTTGAACCAAGGCAGTCTGCTATTTCTTAACTATCATACCAGGAGACTTGTTTCTGTGGGTGTATGTGGTTTCTGAACCCCATAACCACTCTGTCTCCGAGGCAGGCATCATTATCCCTGTTAAAAGTAAAACAAGGCTGGGCACAGTGGCTCATGCCTGTAATCCCAGCACTTTGGGGGGGTCCAAGGCTGGTGGATCACCTGAGATAAGGAGTCCAAGACCAGCCTGGCCAACATGGTGAAACCCCGTCTCTACTGAAAAAAAAATACAAAAATTAGCCACGTGTAGTGGCAGGTGCCTGTAATCCCAGCTCCTTGGGAGGCTGAGGCAGGAGAATCACTTGAACCCGGGAGGCAGAGGTTGCAGTGAGCCGAGATTAGGCCACTGCACTCCAGCCTAGGCGACAAGAGCAAGACTCCATCTCAAAAAAAAAAAAAAAGTAAAACAAATGGAAACTGCAAGTGGGTAAGTCTTTTCCCCAAAATAAAACCACCAGTAAGTGATGGACTGGGACTATGAAGCATGATCTGCTTGACCGGAAAGCCTGAGCTCCTGCTGCTTGGCCAGGTGCCTCTCTCTGTGATCAGAACCATCACGGAGGCCTGGGCAGAGGACCTCTATGGGAAGTCAGCTCAGGGAAGCATTAATTCTGCCTCAGAGAACTGGACGATGTTTGACAAAAGGAATGATATTTGAGCTGGGCTTTGGAGGTCAAAGAGTATTCTGCAAAGCAGTGAGGGAGAGGAAGGCATGTCAAGATCAGGGAACAGTGTGTACCCTGGCGTGGCTAGACTGTACGGAGCGTGTGTAGGGGTTGGCAGGGGAGAGGTGGCAAGGAGTACTGGGGGTTGAGACTGGAACACTGGGTCAGAGCCAGTTGGAAGGACTTGGCTTAAATGCCAGACTTGGGCTTTATCCTGCAGGCCACAGAGAGCCATCAGTGTCACGGGGGAGGTTGAGCTTTTAGGAGACTACCTGGTTTGAGGAGGGACTGGATTTGGGGAAGAACTGGAGTCAGGGAGAGACAGGTTAAGAGGCCATTGCCATAGTTCAGGCAAAGAATGATGACCTGAACTAGGGCAGAAACAAAGGGAATGGAGAGGAATAGCCATGTCTGAGAAATGTTTTGAGAACTTGGTGACCAAACTGGATATGGAAGGTGAGGAAGATACAGGAGAGAAGGGGACA
Task1_train_1946
A variant found in Chromosome 1 affects ATP1A2 (ATPase Na+/K+ transporting subunit alpha 2). Please analyze its biological impact: is it benign or pathogenic, and what condition might it cause?
Pathogenic; Familial hemiplegic migraine
AATTGAACATTCATTATTTACAGCTAAGTCCCACCCATTCAAGTTAGTGGAGTAGAATCAGGGGAGGAGGAATGGAGCCACGGTCTAGGGTAAGGTTATGGCCATCTCCGGCTTCAGCCTTAACCTTTTTTATTCTCCTCTTTCTCTACCAGGTGTGCCTGACCCTGACAGCCAAGCGCATGGCACGGAAGAACTGCCTGGTGAAGAACCTGGAGGCGGTGGAGACGCTGGGCTCCACGTCCACCATCTGCTCGGACAAGACGGGCACCCTCACCCAGAACCGCATGACCGTCGCCCACATGTGGTTCGACAACCAAATCCATGAGGCTGACACCACCGAAGATCAGTCTGGTGATTGGGTGCTCCAGAGGGGGTGGATAGGATTAGAGGAGGCTGAGGGCAGTGGCGTGGTGGGGTGAGTGGTTGAGATAAAGGCTCTAAAGGGAGCCACGCTCCTGGTTCCCCCTCATTTCCTCCCAGGGGCCACTTTTGACAAACGATCCCCTACGTGGACGGCCCTGTCTCGAATTGCTGGTCTCTGCAACCGCGCCGTCTTCAAGGCAGGACAGGAGAACATCTCCGTGTCTAAGGTAGGGGGTCAGGACACACACCAGGTATGTTTTGGGGGTGTCTCCAAAGCCTCTTGCTGGCCCCAGCTTTCCTTCTCACATGATGTGGCTGCCTTGGGGGTTTCAGTGCCGCCTTCACCTGATCCTCCACTCCCTTCCCTCCCATGCTGACACTGAATTCTTGTCTCTTCTGGCAGCGGGACACAGCTGGTGATGCCTCTGAGTCAGCTCTGCTCAAGTGCATTGAGCTCTCCTGTGGCTCAGTGAGGAAAATGAGAGACAGAAACCCCAAGGTGGCAGAGATTCCTTTCAACTCTACCAACAAGTACCAGGTCTGCTTGGGTTGCCAGGACAGAGGAAGAGAGAGGGATATAAATGGGTGAGGGTGGACAAAGCCAAGGGGAATCATCACTAGCAGGAGTGGGGGTGTCTGAGGGTCATGTTCCCTCCCCCTGCTAAGTCCCCCAGGACAGCTCATATGACTGCATGTCTGATTGCAACTAGCCCCAGCTCCCAAACCTTACTCCATCCCTTACTACAATCTGTCACTCTCTCAACTCTTCTTCCCATAGCTCCGCATCCTCTGGCCTAGCCTTCCAACTCTTCTACCCCAGTCAGTGAAACCATAATTCTGTAATTCCTTTATGGTGCCCCTTAGCCTTTAGGCACCTGTTAAATGCCAAGAATGCAATCTCAGCATTCCTTATTATCCATAGAGGTAAAGCCCCCTGAGGCCAGGTGGTGGTGGGGATGCTGAGGAGGGAGCCGTTCAGCCCCTAGCACAGTGCCTGTCTTAACCTGACCTCAATAAATATTTGTTGAATGAAAGACTGTCCTACGGAGGTGGCTCTCAGGTTACAAGTGTTGGAACTGTGAGGTCTAAACACCCCCCTGCACAAGGAGATTCTCTTTGTTGACAATCTTTGATGGGTTGGGGCTACTTTTCTAAGGTGGTTTCCTTACCAGCTGCTGCTCTATGCCGCGCTACCAAGACAAGTATGGCCCTCTCTGTAACTACCTGTTGTCTCTCCAGCTGTCTATCCACGAGCGAGAAGACAGCCCCCAGAGCCACGTGCTGGTGATGAAGGGGGCCCCAGAGCGCATTCTGGACCGGTGCTCCACCATCCTGGTGCAGGGCAAGGAGATCCCGCTCGACAAGGAGATGCAAGATGCCTTTCAAAATGCCTACATGGAGCTGGGGGGACTTGGGGAGCGTGTGCTGGGTGAGAGGCCAGAAACAGGAGGCTCAGAAGGGGATTCCCAAGCCTCTGCGGCATCCCTGGGGTGGGGGACTGTGGGGGCGTCCAGGAAGCCACTCTGCGGATCTCACTGATCCCTTCTGCCCCCCTTTAGGATTCTGTCAACTGAATCTGCCATCTGGAAAGTTTCCTCGGGGCTTCAAATTCGACACGGATGAGCTGAACTTTCCCACGGAGAAGCTTTGCTTTGTGGGGCTCATGTCTATGATTGACCCTCCCCGGGCTGCTGTGCCAGATGCTGTGGGCAAGTGCCGAAGCGCAGGCATCAAGGTACTGGCCTCCCATCCTCCCCTCCATTCTAGCCTCCCCCATGCCAGAGTTCAAGGAGCTGCAGTGGCTGCTGCCCTGGAAAGGCCCAGGCCACGGTGGCCTCCTTCCCACTGACTCAGAGAAGAAGCTGTCCATCTGCAAGGAAAGGCCCACCCCTGCCTTGGGGCACTCACCCTTATCCCTTTTGCTCAGAGAGGCCAGTGTCCCATGCCCCTCCTCTCCCTCCCTGGCACAGCTCTTTGTCCCATCTGCATGTGTACCCTTCCATTCTGATTTGAAGCATAATCTGGCACTCCTATCTTGAAGACCTAGTTGTCCTACCCTTCCCAACTACTGCCCACCCTCTCTGTCAACTTAGGATGGGATTAGCAGGCTCTTGTATGCTCCCAGTGGCTCAGCCCATAACCCCACAGAATGCCTCCCACTCAAGGTTCTCTTGTTCAACTACAATTGCTTCTCACTGACCACTCCCTCCTCTGTGCTATGTTTGTTCTTCATTCAACAAATATTTACTGTTTACTATGTTTCAGACACTGTGCAAGGTGCAAACTCTAGCACCTTGCACAGTGCCTGATACATAGTAAACAATTTGTGTCACATGACACATCTAGATGGGACAATGAGCTGTGCCAGGGAGGACACATATAAATCAGGCACTATTCTAAGCACTAAACCTCTATGATTTCATTTAATCTACGCAACAACCCTGTGAATAAGCACCAGTATTTTTCCTTTTTTACAAAGAGGGAAACTGAGGCACAAAGTAACATGCCAAGGCCACACAGCTAGTGTAAGTCATAGAGCAGGTACTTGAACCAAGGCAGTCTGCTATTTCTTAACTATCATACCAGGAGACTTGTTTCTGTGGGTGTATGTGGTTTCTGAACCCCATAACCACTCTGTCTCCGAGGCAGGCATCATTATCCCTGTTAAAAGTAAAACAAGGCTGGGCACAGTGGCTCATGCCTGTAATCCCAGCACTTTGGGGGGGTCCAAGGCTGGTGGATCACCTGAGATAAGGAGTCCAAGACCAGCCTGGCCAACATGGTGAAACCCCGTCTCTACTGAAAAAAAAATACAAAAATTAGCCACGTGTAGTGGCAGGTGCCTGTAATCCCAGCTCCTTGGGAGGCTGAGGCAGGAGAATCACTTGAACCCGGGAGGCAGAGGTTGCAGTGAGCCGAGATTAGGCCACTGCACTCCAGCCTAGGCGACAAGAGCAAGACTCCATCTCAAAAAAAAAAAAAAAGTAAAACAAATGGAAACTGCAAGTGGGTAAGTCTTTTCCCCAAAATAAAACCACCAGTAAGTGATGGACTGGGACTATGAAGCATGATCTGCTTGACCGGAAAGCCTGAGCTCCTGCTGCTTGGCCAGGTGCCTCTCTCTGTGATCAGAACCATCACGGAGGCCTGGGCAGAGGACCTCTATGGGAAGTCAGCTCAGGGAAGCATTAATTCTGCCTCAGAGAACTGGACGATGTTTGACAAAAGGAATGATATTTGAGCTGGGCTTTGGAGGTCAAAGAGTATTCTGCAAAGCAGTGAGGGAGAGGAAGGCATGTCAAGATCAGGGAACAGTGTGTACCCTGGCGTGGCTAGACTGTACGGAGCGTGTGTAGGGGTTGGCAGGGGAGAGGTGGCAAGGAGTACTGGGGGTTGAGACTGGAACACTGGGTCAGAGCCAGTTGGAAGGACTTGGCTTAAATGCCAGACTTGGGCTTTATCCTGCAGGCCACAGAGAGCCATCAGTGTCACGGGGGAGGTTGAGCTTTTAGGAGACTACCTGGTTTGAGGAGGGACTGGATTTGGGGAAGAACTGGAGTCAGGGAGAGACAGGTTAAGAGGCCATTGCCATAGTTCAGGCAAAGAATGATGACCTGAACTAGGGCAGAAACAAAGGGAATGGAGAGGAATAGCCATGTCTGAGAAATGTTTTGAGAACTTGGTGACCAAACTGGATATGGAAGGTGAGGAAGATACAGGAGAGAAGGGGACA
AATTGAACATTCATTATTTACAGCTAAGTCCCACCCATTCAAGTTAGTGGAGTAGAATCAGGGGAGGAGGAATGGAGCCACGGTCTAGGGTAAGGTTATGGCCATCTCCGGCTTCAGCCTTAACCTTTTTTATTCTCCTCTTTCTCTACCAGGTGTGCCTGACCCTGACAGCCAAGCGCATGGCACGGAAGAACTGCCTGGTGAAGAACCTGGAGGCGGTGGAGACGCTGGGCTCCACGTCCACCATCTGCTCGGACAAGACGGGCACCCTCACCCAGAACCGCATGACCGTCGCCCACATGTGGTTCGACAACCAAATCCATGAGGCTGACACCACCGAAGATCAGTCTGGTGATTGGGTGCTCCAGAGGGGGTGGATAGGATTAGAGGAGGCTGAGGGCAGTGGCGTGGTGGGGTGAGTGGTTGAGATAAAGGCTCTAAAGGGAGCCACGCTCCTGGTTCCCCCTCATTTCCTCCCAGGGGCCACTTTTGACAAACGATCCCCTACGTGGACGGCCCTGTCTCGAATTGCTGGTCTCTGCAACCGCGCCGTCTTCAAGGCAGGACAGGAGAACATCTCCGTGTCTAAGGTAGGGGGTCAGGACACACACCAGGTATGTTTTGGGGGTGTCTCCAAAGCCTCTTGCTGGCCCCAGCTTTCCTTCTCACATGATGTGGCTGCCTTGGGGGTTTCAGTGCCGCCTTCACCTGATCCTCCACTCCCTTCCCTCCCATGCTGACACTGAATTCTTGTCTCTTCTGGCAGCGGGACACAGCTGGTGATGCCTCTGAGTCAGCTCTGCTCAAGTGCATTGAGCTCTCCTGTGGCTCAGTGAGGAAAATGAGAGACAGAAACCCCAAGGTGGCAGAGATTCCTTTCAACTCTACCAACAAGTACCAGGTCTGCTTGGGTTGCCAGGACAGAGGAAGAGAGAGGGATATAAATGGGTGAGGGTGGACAAAGCCAAGGGGAATCATCACTAGCAGGAGTGGGGGTGTCTGAGGGTCATGTTCCCTCCCCCTGCTAAGTCCCCCAGGACAGCTCATATGACTGCATGTCTGATTGCAACTAGCCCCAGCTCCCAAACCTTACTCCATCCCTTACTACAATCTGTCACTCTCTCAACTCTTCTTCCCATAGCTCCGCATCCTCTGGCCTAGCCTTCCAACTCTTCTACCCCAGTCAGTGAAACCATAATTCTGTAATTCCTTTATGGTGCCCCTTAGCCTTTAGGCACCTGTTAAATGCCAAGAATGCAATCTCAGCATTCCTTATTATCCATAGAGGTAAAGCCCCCTGAGGCCAGGTGGTGGTGGGGATGCTGAGGAGGGAGCCGTTCAGCCCCTAGCACAGTGCCTGTCTTAACCTGACCTCAATAAATATTTGTTGAATGAAAGACTGTCCTACGGAGGTGGCTCTCAGGTTACAAGTGTTGGAACTGTGAGGTCTAAACACCCCCCTGCACAAGGAGATTCTCTTTGTTGACAATCTTTGATGGGTTGGGGCTACTTTTCTAAGGTGGTTTCCTTACCAGCTGCTGCTCTATGCCGCGCTACCAAGACAAGTATGGCCCTCTCTGTAACTACCTGTTGTCTCTCCAGCTGTCTATCCACGAGCGAGAAGACAGCCCCCAGAGCCACGTGCTGGTGATGAAGGGGGCCCCAGAGCGCATTCTGGACCGGTGCTCCACCATCCTGGTGCAGGGCAAGGAGATCCCGCTCGACAAGGAGATGCAAGATGCCTTTCAAAATGCCTACATGGAGCTGGGGGGACTTGGGGAGCGTGTGCTGGGTGAGAGGCCAGAAACAGGAGGCTCAGAAGGGGATTCCCAAGCCTCTGCGGCATCCCTGGGGTGGGGGACTGTGGGGGCGTCCAGGAAGCCACTCTGCGGATCTCACTGATCCCTTCTGCCCCCCTTTAGGATTCTGTCAACTGAATCTGCCATCTGGAAAGTTTCCTCGGGGCTTCAAATTCGACACGGATGAGCTGAACTTTCCCACGGAGAAGCTTTGCTTTGTGGGGCTCATGTCTATGATTGACCCTCCCCTGGCTGCTGTGCCAGATGCTGTGGGCAAGTGCCGAAGCGCAGGCATCAAGGTACTGGCCTCCCATCCTCCCCTCCATTCTAGCCTCCCCCATGCCAGAGTTCAAGGAGCTGCAGTGGCTGCTGCCCTGGAAAGGCCCAGGCCACGGTGGCCTCCTTCCCACTGACTCAGAGAAGAAGCTGTCCATCTGCAAGGAAAGGCCCACCCCTGCCTTGGGGCACTCACCCTTATCCCTTTTGCTCAGAGAGGCCAGTGTCCCATGCCCCTCCTCTCCCTCCCTGGCACAGCTCTTTGTCCCATCTGCATGTGTACCCTTCCATTCTGATTTGAAGCATAATCTGGCACTCCTATCTTGAAGACCTAGTTGTCCTACCCTTCCCAACTACTGCCCACCCTCTCTGTCAACTTAGGATGGGATTAGCAGGCTCTTGTATGCTCCCAGTGGCTCAGCCCATAACCCCACAGAATGCCTCCCACTCAAGGTTCTCTTGTTCAACTACAATTGCTTCTCACTGACCACTCCCTCCTCTGTGCTATGTTTGTTCTTCATTCAACAAATATTTACTGTTTACTATGTTTCAGACACTGTGCAAGGTGCAAACTCTAGCACCTTGCACAGTGCCTGATACATAGTAAACAATTTGTGTCACATGACACATCTAGATGGGACAATGAGCTGTGCCAGGGAGGACACATATAAATCAGGCACTATTCTAAGCACTAAACCTCTATGATTTCATTTAATCTACGCAACAACCCTGTGAATAAGCACCAGTATTTTTCCTTTTTTACAAAGAGGGAAACTGAGGCACAAAGTAACATGCCAAGGCCACACAGCTAGTGTAAGTCATAGAGCAGGTACTTGAACCAAGGCAGTCTGCTATTTCTTAACTATCATACCAGGAGACTTGTTTCTGTGGGTGTATGTGGTTTCTGAACCCCATAACCACTCTGTCTCCGAGGCAGGCATCATTATCCCTGTTAAAAGTAAAACAAGGCTGGGCACAGTGGCTCATGCCTGTAATCCCAGCACTTTGGGGGGGTCCAAGGCTGGTGGATCACCTGAGATAAGGAGTCCAAGACCAGCCTGGCCAACATGGTGAAACCCCGTCTCTACTGAAAAAAAAATACAAAAATTAGCCACGTGTAGTGGCAGGTGCCTGTAATCCCAGCTCCTTGGGAGGCTGAGGCAGGAGAATCACTTGAACCCGGGAGGCAGAGGTTGCAGTGAGCCGAGATTAGGCCACTGCACTCCAGCCTAGGCGACAAGAGCAAGACTCCATCTCAAAAAAAAAAAAAAAGTAAAACAAATGGAAACTGCAAGTGGGTAAGTCTTTTCCCCAAAATAAAACCACCAGTAAGTGATGGACTGGGACTATGAAGCATGATCTGCTTGACCGGAAAGCCTGAGCTCCTGCTGCTTGGCCAGGTGCCTCTCTCTGTGATCAGAACCATCACGGAGGCCTGGGCAGAGGACCTCTATGGGAAGTCAGCTCAGGGAAGCATTAATTCTGCCTCAGAGAACTGGACGATGTTTGACAAAAGGAATGATATTTGAGCTGGGCTTTGGAGGTCAAAGAGTATTCTGCAAAGCAGTGAGGGAGAGGAAGGCATGTCAAGATCAGGGAACAGTGTGTACCCTGGCGTGGCTAGACTGTACGGAGCGTGTGTAGGGGTTGGCAGGGGAGAGGTGGCAAGGAGTACTGGGGGTTGAGACTGGAACACTGGGTCAGAGCCAGTTGGAAGGACTTGGCTTAAATGCCAGACTTGGGCTTTATCCTGCAGGCCACAGAGAGCCATCAGTGTCACGGGGGAGGTTGAGCTTTTAGGAGACTACCTGGTTTGAGGAGGGACTGGATTTGGGGAAGAACTGGAGTCAGGGAGAGACAGGTTAAGAGGCCATTGCCATAGTTCAGGCAAAGAATGATGACCTGAACTAGGGCAGAAACAAAGGGAATGGAGAGGAATAGCCATGTCTGAGAAATGTTTTGAGAACTTGGTGACCAAACTGGATATGGAAGGTGAGGAAGATACAGGAGAGAAGGGGACA
Task1_train_1947
Located on Chromosome 1, this mutation impacts ATP1A2 (ATPase Na+/K+ transporting subunit alpha 2). What is its biological consequence — is it benign or pathogenic, and which disease is associated if any?
Pathogenic; ATP1A2-related disorder
TCAAGTTAGTGGAGTAGAATCAGGGGAGGAGGAATGGAGCCACGGTCTAGGGTAAGGTTATGGCCATCTCCGGCTTCAGCCTTAACCTTTTTTATTCTCCTCTTTCTCTACCAGGTGTGCCTGACCCTGACAGCCAAGCGCATGGCACGGAAGAACTGCCTGGTGAAGAACCTGGAGGCGGTGGAGACGCTGGGCTCCACGTCCACCATCTGCTCGGACAAGACGGGCACCCTCACCCAGAACCGCATGACCGTCGCCCACATGTGGTTCGACAACCAAATCCATGAGGCTGACACCACCGAAGATCAGTCTGGTGATTGGGTGCTCCAGAGGGGGTGGATAGGATTAGAGGAGGCTGAGGGCAGTGGCGTGGTGGGGTGAGTGGTTGAGATAAAGGCTCTAAAGGGAGCCACGCTCCTGGTTCCCCCTCATTTCCTCCCAGGGGCCACTTTTGACAAACGATCCCCTACGTGGACGGCCCTGTCTCGAATTGCTGGTCTCTGCAACCGCGCCGTCTTCAAGGCAGGACAGGAGAACATCTCCGTGTCTAAGGTAGGGGGTCAGGACACACACCAGGTATGTTTTGGGGGTGTCTCCAAAGCCTCTTGCTGGCCCCAGCTTTCCTTCTCACATGATGTGGCTGCCTTGGGGGTTTCAGTGCCGCCTTCACCTGATCCTCCACTCCCTTCCCTCCCATGCTGACACTGAATTCTTGTCTCTTCTGGCAGCGGGACACAGCTGGTGATGCCTCTGAGTCAGCTCTGCTCAAGTGCATTGAGCTCTCCTGTGGCTCAGTGAGGAAAATGAGAGACAGAAACCCCAAGGTGGCAGAGATTCCTTTCAACTCTACCAACAAGTACCAGGTCTGCTTGGGTTGCCAGGACAGAGGAAGAGAGAGGGATATAAATGGGTGAGGGTGGACAAAGCCAAGGGGAATCATCACTAGCAGGAGTGGGGGTGTCTGAGGGTCATGTTCCCTCCCCCTGCTAAGTCCCCCAGGACAGCTCATATGACTGCATGTCTGATTGCAACTAGCCCCAGCTCCCAAACCTTACTCCATCCCTTACTACAATCTGTCACTCTCTCAACTCTTCTTCCCATAGCTCCGCATCCTCTGGCCTAGCCTTCCAACTCTTCTACCCCAGTCAGTGAAACCATAATTCTGTAATTCCTTTATGGTGCCCCTTAGCCTTTAGGCACCTGTTAAATGCCAAGAATGCAATCTCAGCATTCCTTATTATCCATAGAGGTAAAGCCCCCTGAGGCCAGGTGGTGGTGGGGATGCTGAGGAGGGAGCCGTTCAGCCCCTAGCACAGTGCCTGTCTTAACCTGACCTCAATAAATATTTGTTGAATGAAAGACTGTCCTACGGAGGTGGCTCTCAGGTTACAAGTGTTGGAACTGTGAGGTCTAAACACCCCCCTGCACAAGGAGATTCTCTTTGTTGACAATCTTTGATGGGTTGGGGCTACTTTTCTAAGGTGGTTTCCTTACCAGCTGCTGCTCTATGCCGCGCTACCAAGACAAGTATGGCCCTCTCTGTAACTACCTGTTGTCTCTCCAGCTGTCTATCCACGAGCGAGAAGACAGCCCCCAGAGCCACGTGCTGGTGATGAAGGGGGCCCCAGAGCGCATTCTGGACCGGTGCTCCACCATCCTGGTGCAGGGCAAGGAGATCCCGCTCGACAAGGAGATGCAAGATGCCTTTCAAAATGCCTACATGGAGCTGGGGGGACTTGGGGAGCGTGTGCTGGGTGAGAGGCCAGAAACAGGAGGCTCAGAAGGGGATTCCCAAGCCTCTGCGGCATCCCTGGGGTGGGGGACTGTGGGGGCGTCCAGGAAGCCACTCTGCGGATCTCACTGATCCCTTCTGCCCCCCTTTAGGATTCTGTCAACTGAATCTGCCATCTGGAAAGTTTCCTCGGGGCTTCAAATTCGACACGGATGAGCTGAACTTTCCCACGGAGAAGCTTTGCTTTGTGGGGCTCATGTCTATGATTGACCCTCCCCGGGCTGCTGTGCCAGATGCTGTGGGCAAGTGCCGAAGCGCAGGCATCAAGGTACTGGCCTCCCATCCTCCCCTCCATTCTAGCCTCCCCCATGCCAGAGTTCAAGGAGCTGCAGTGGCTGCTGCCCTGGAAAGGCCCAGGCCACGGTGGCCTCCTTCCCACTGACTCAGAGAAGAAGCTGTCCATCTGCAAGGAAAGGCCCACCCCTGCCTTGGGGCACTCACCCTTATCCCTTTTGCTCAGAGAGGCCAGTGTCCCATGCCCCTCCTCTCCCTCCCTGGCACAGCTCTTTGTCCCATCTGCATGTGTACCCTTCCATTCTGATTTGAAGCATAATCTGGCACTCCTATCTTGAAGACCTAGTTGTCCTACCCTTCCCAACTACTGCCCACCCTCTCTGTCAACTTAGGATGGGATTAGCAGGCTCTTGTATGCTCCCAGTGGCTCAGCCCATAACCCCACAGAATGCCTCCCACTCAAGGTTCTCTTGTTCAACTACAATTGCTTCTCACTGACCACTCCCTCCTCTGTGCTATGTTTGTTCTTCATTCAACAAATATTTACTGTTTACTATGTTTCAGACACTGTGCAAGGTGCAAACTCTAGCACCTTGCACAGTGCCTGATACATAGTAAACAATTTGTGTCACATGACACATCTAGATGGGACAATGAGCTGTGCCAGGGAGGACACATATAAATCAGGCACTATTCTAAGCACTAAACCTCTATGATTTCATTTAATCTACGCAACAACCCTGTGAATAAGCACCAGTATTTTTCCTTTTTTACAAAGAGGGAAACTGAGGCACAAAGTAACATGCCAAGGCCACACAGCTAGTGTAAGTCATAGAGCAGGTACTTGAACCAAGGCAGTCTGCTATTTCTTAACTATCATACCAGGAGACTTGTTTCTGTGGGTGTATGTGGTTTCTGAACCCCATAACCACTCTGTCTCCGAGGCAGGCATCATTATCCCTGTTAAAAGTAAAACAAGGCTGGGCACAGTGGCTCATGCCTGTAATCCCAGCACTTTGGGGGGGTCCAAGGCTGGTGGATCACCTGAGATAAGGAGTCCAAGACCAGCCTGGCCAACATGGTGAAACCCCGTCTCTACTGAAAAAAAAATACAAAAATTAGCCACGTGTAGTGGCAGGTGCCTGTAATCCCAGCTCCTTGGGAGGCTGAGGCAGGAGAATCACTTGAACCCGGGAGGCAGAGGTTGCAGTGAGCCGAGATTAGGCCACTGCACTCCAGCCTAGGCGACAAGAGCAAGACTCCATCTCAAAAAAAAAAAAAAAGTAAAACAAATGGAAACTGCAAGTGGGTAAGTCTTTTCCCCAAAATAAAACCACCAGTAAGTGATGGACTGGGACTATGAAGCATGATCTGCTTGACCGGAAAGCCTGAGCTCCTGCTGCTTGGCCAGGTGCCTCTCTCTGTGATCAGAACCATCACGGAGGCCTGGGCAGAGGACCTCTATGGGAAGTCAGCTCAGGGAAGCATTAATTCTGCCTCAGAGAACTGGACGATGTTTGACAAAAGGAATGATATTTGAGCTGGGCTTTGGAGGTCAAAGAGTATTCTGCAAAGCAGTGAGGGAGAGGAAGGCATGTCAAGATCAGGGAACAGTGTGTACCCTGGCGTGGCTAGACTGTACGGAGCGTGTGTAGGGGTTGGCAGGGGAGAGGTGGCAAGGAGTACTGGGGGTTGAGACTGGAACACTGGGTCAGAGCCAGTTGGAAGGACTTGGCTTAAATGCCAGACTTGGGCTTTATCCTGCAGGCCACAGAGAGCCATCAGTGTCACGGGGGAGGTTGAGCTTTTAGGAGACTACCTGGTTTGAGGAGGGACTGGATTTGGGGAAGAACTGGAGTCAGGGAGAGACAGGTTAAGAGGCCATTGCCATAGTTCAGGCAAAGAATGATGACCTGAACTAGGGCAGAAACAAAGGGAATGGAGAGGAATAGCCATGTCTGAGAAATGTTTTGAGAACTTGGTGACCAAACTGGATATGGAAGGTGAGGAAGATACAGGAGAGAAGGGGACAGGATGAATAGAGAGGACAACATCTAAGGTAGGGAGCAG
TCAAGTTAGTGGAGTAGAATCAGGGGAGGAGGAATGGAGCCACGGTCTAGGGTAAGGTTATGGCCATCTCCGGCTTCAGCCTTAACCTTTTTTATTCTCCTCTTTCTCTACCAGGTGTGCCTGACCCTGACAGCCAAGCGCATGGCACGGAAGAACTGCCTGGTGAAGAACCTGGAGGCGGTGGAGACGCTGGGCTCCACGTCCACCATCTGCTCGGACAAGACGGGCACCCTCACCCAGAACCGCATGACCGTCGCCCACATGTGGTTCGACAACCAAATCCATGAGGCTGACACCACCGAAGATCAGTCTGGTGATTGGGTGCTCCAGAGGGGGTGGATAGGATTAGAGGAGGCTGAGGGCAGTGGCGTGGTGGGGTGAGTGGTTGAGATAAAGGCTCTAAAGGGAGCCACGCTCCTGGTTCCCCCTCATTTCCTCCCAGGGGCCACTTTTGACAAACGATCCCCTACGTGGACGGCCCTGTCTCGAATTGCTGGTCTCTGCAACCGCGCCGTCTTCAAGGCAGGACAGGAGAACATCTCCGTGTCTAAGGTAGGGGGTCAGGACACACACCAGGTATGTTTTGGGGGTGTCTCCAAAGCCTCTTGCTGGCCCCAGCTTTCCTTCTCACATGATGTGGCTGCCTTGGGGGTTTCAGTGCCGCCTTCACCTGATCCTCCACTCCCTTCCCTCCCATGCTGACACTGAATTCTTGTCTCTTCTGGCAGCGGGACACAGCTGGTGATGCCTCTGAGTCAGCTCTGCTCAAGTGCATTGAGCTCTCCTGTGGCTCAGTGAGGAAAATGAGAGACAGAAACCCCAAGGTGGCAGAGATTCCTTTCAACTCTACCAACAAGTACCAGGTCTGCTTGGGTTGCCAGGACAGAGGAAGAGAGAGGGATATAAATGGGTGAGGGTGGACAAAGCCAAGGGGAATCATCACTAGCAGGAGTGGGGGTGTCTGAGGGTCATGTTCCCTCCCCCTGCTAAGTCCCCCAGGACAGCTCATATGACTGCATGTCTGATTGCAACTAGCCCCAGCTCCCAAACCTTACTCCATCCCTTACTACAATCTGTCACTCTCTCAACTCTTCTTCCCATAGCTCCGCATCCTCTGGCCTAGCCTTCCAACTCTTCTACCCCAGTCAGTGAAACCATAATTCTGTAATTCCTTTATGGTGCCCCTTAGCCTTTAGGCACCTGTTAAATGCCAAGAATGCAATCTCAGCATTCCTTATTATCCATAGAGGTAAAGCCCCCTGAGGCCAGGTGGTGGTGGGGATGCTGAGGAGGGAGCCGTTCAGCCCCTAGCACAGTGCCTGTCTTAACCTGACCTCAATAAATATTTGTTGAATGAAAGACTGTCCTACGGAGGTGGCTCTCAGGTTACAAGTGTTGGAACTGTGAGGTCTAAACACCCCCCTGCACAAGGAGATTCTCTTTGTTGACAATCTTTGATGGGTTGGGGCTACTTTTCTAAGGTGGTTTCCTTACCAGCTGCTGCTCTATGCCGCGCTACCAAGACAAGTATGGCCCTCTCTGTAACTACCTGTTGTCTCTCCAGCTGTCTATCCACGAGCGAGAAGACAGCCCCCAGAGCCACGTGCTGGTGATGAAGGGGGCCCCAGAGCGCATTCTGGACCGGTGCTCCACCATCCTGGTGCAGGGCAAGGAGATCCCGCTCGACAAGGAGATGCAAGATGCCTTTCAAAATGCCTACATGGAGCTGGGGGGACTTGGGGAGCGTGTGCTGGGTGAGAGGCCAGAAACAGGAGGCTCAGAAGGGGATTCCCAAGCCTCTGCGGCATCCCTGGGGTGGGGGACTGTGGGGGCGTCCAGGAAGCCACTCTGCGGATCTCACTGATCCCTTCTGCCCCCCTTTAGGATTCTGTCAACTGAATCTGCCATCTGGAAAGTTTCCTCGGGGCTTCAAATTCGACACGGATGAGCTGAACTTTCCCACGGAGAAGCTTTGCTTTGTGGGGCTCATGTCTATGATTGACCCTCCCCGGGCTGCTGTGCCAGATGCTGTGGGCAAGTGCCGAAGCACAGGCATCAAGGTACTGGCCTCCCATCCTCCCCTCCATTCTAGCCTCCCCCATGCCAGAGTTCAAGGAGCTGCAGTGGCTGCTGCCCTGGAAAGGCCCAGGCCACGGTGGCCTCCTTCCCACTGACTCAGAGAAGAAGCTGTCCATCTGCAAGGAAAGGCCCACCCCTGCCTTGGGGCACTCACCCTTATCCCTTTTGCTCAGAGAGGCCAGTGTCCCATGCCCCTCCTCTCCCTCCCTGGCACAGCTCTTTGTCCCATCTGCATGTGTACCCTTCCATTCTGATTTGAAGCATAATCTGGCACTCCTATCTTGAAGACCTAGTTGTCCTACCCTTCCCAACTACTGCCCACCCTCTCTGTCAACTTAGGATGGGATTAGCAGGCTCTTGTATGCTCCCAGTGGCTCAGCCCATAACCCCACAGAATGCCTCCCACTCAAGGTTCTCTTGTTCAACTACAATTGCTTCTCACTGACCACTCCCTCCTCTGTGCTATGTTTGTTCTTCATTCAACAAATATTTACTGTTTACTATGTTTCAGACACTGTGCAAGGTGCAAACTCTAGCACCTTGCACAGTGCCTGATACATAGTAAACAATTTGTGTCACATGACACATCTAGATGGGACAATGAGCTGTGCCAGGGAGGACACATATAAATCAGGCACTATTCTAAGCACTAAACCTCTATGATTTCATTTAATCTACGCAACAACCCTGTGAATAAGCACCAGTATTTTTCCTTTTTTACAAAGAGGGAAACTGAGGCACAAAGTAACATGCCAAGGCCACACAGCTAGTGTAAGTCATAGAGCAGGTACTTGAACCAAGGCAGTCTGCTATTTCTTAACTATCATACCAGGAGACTTGTTTCTGTGGGTGTATGTGGTTTCTGAACCCCATAACCACTCTGTCTCCGAGGCAGGCATCATTATCCCTGTTAAAAGTAAAACAAGGCTGGGCACAGTGGCTCATGCCTGTAATCCCAGCACTTTGGGGGGGTCCAAGGCTGGTGGATCACCTGAGATAAGGAGTCCAAGACCAGCCTGGCCAACATGGTGAAACCCCGTCTCTACTGAAAAAAAAATACAAAAATTAGCCACGTGTAGTGGCAGGTGCCTGTAATCCCAGCTCCTTGGGAGGCTGAGGCAGGAGAATCACTTGAACCCGGGAGGCAGAGGTTGCAGTGAGCCGAGATTAGGCCACTGCACTCCAGCCTAGGCGACAAGAGCAAGACTCCATCTCAAAAAAAAAAAAAAAGTAAAACAAATGGAAACTGCAAGTGGGTAAGTCTTTTCCCCAAAATAAAACCACCAGTAAGTGATGGACTGGGACTATGAAGCATGATCTGCTTGACCGGAAAGCCTGAGCTCCTGCTGCTTGGCCAGGTGCCTCTCTCTGTGATCAGAACCATCACGGAGGCCTGGGCAGAGGACCTCTATGGGAAGTCAGCTCAGGGAAGCATTAATTCTGCCTCAGAGAACTGGACGATGTTTGACAAAAGGAATGATATTTGAGCTGGGCTTTGGAGGTCAAAGAGTATTCTGCAAAGCAGTGAGGGAGAGGAAGGCATGTCAAGATCAGGGAACAGTGTGTACCCTGGCGTGGCTAGACTGTACGGAGCGTGTGTAGGGGTTGGCAGGGGAGAGGTGGCAAGGAGTACTGGGGGTTGAGACTGGAACACTGGGTCAGAGCCAGTTGGAAGGACTTGGCTTAAATGCCAGACTTGGGCTTTATCCTGCAGGCCACAGAGAGCCATCAGTGTCACGGGGGAGGTTGAGCTTTTAGGAGACTACCTGGTTTGAGGAGGGACTGGATTTGGGGAAGAACTGGAGTCAGGGAGAGACAGGTTAAGAGGCCATTGCCATAGTTCAGGCAAAGAATGATGACCTGAACTAGGGCAGAAACAAAGGGAATGGAGAGGAATAGCCATGTCTGAGAAATGTTTTGAGAACTTGGTGACCAAACTGGATATGGAAGGTGAGGAAGATACAGGAGAGAAGGGGACAGGATGAATAGAGAGGACAACATCTAAGGTAGGGAGCAG
Task1_train_1948
This genomic variant is located on Chromosome 1, within the ATP1A2 (ATPase Na+/K+ transporting subunit alpha 2) gene. Can you determine its pathogenicity and name any linked disease?
Pathogenic; Familial hemiplegic migraine
TCAAGTTAGTGGAGTAGAATCAGGGGAGGAGGAATGGAGCCACGGTCTAGGGTAAGGTTATGGCCATCTCCGGCTTCAGCCTTAACCTTTTTTATTCTCCTCTTTCTCTACCAGGTGTGCCTGACCCTGACAGCCAAGCGCATGGCACGGAAGAACTGCCTGGTGAAGAACCTGGAGGCGGTGGAGACGCTGGGCTCCACGTCCACCATCTGCTCGGACAAGACGGGCACCCTCACCCAGAACCGCATGACCGTCGCCCACATGTGGTTCGACAACCAAATCCATGAGGCTGACACCACCGAAGATCAGTCTGGTGATTGGGTGCTCCAGAGGGGGTGGATAGGATTAGAGGAGGCTGAGGGCAGTGGCGTGGTGGGGTGAGTGGTTGAGATAAAGGCTCTAAAGGGAGCCACGCTCCTGGTTCCCCCTCATTTCCTCCCAGGGGCCACTTTTGACAAACGATCCCCTACGTGGACGGCCCTGTCTCGAATTGCTGGTCTCTGCAACCGCGCCGTCTTCAAGGCAGGACAGGAGAACATCTCCGTGTCTAAGGTAGGGGGTCAGGACACACACCAGGTATGTTTTGGGGGTGTCTCCAAAGCCTCTTGCTGGCCCCAGCTTTCCTTCTCACATGATGTGGCTGCCTTGGGGGTTTCAGTGCCGCCTTCACCTGATCCTCCACTCCCTTCCCTCCCATGCTGACACTGAATTCTTGTCTCTTCTGGCAGCGGGACACAGCTGGTGATGCCTCTGAGTCAGCTCTGCTCAAGTGCATTGAGCTCTCCTGTGGCTCAGTGAGGAAAATGAGAGACAGAAACCCCAAGGTGGCAGAGATTCCTTTCAACTCTACCAACAAGTACCAGGTCTGCTTGGGTTGCCAGGACAGAGGAAGAGAGAGGGATATAAATGGGTGAGGGTGGACAAAGCCAAGGGGAATCATCACTAGCAGGAGTGGGGGTGTCTGAGGGTCATGTTCCCTCCCCCTGCTAAGTCCCCCAGGACAGCTCATATGACTGCATGTCTGATTGCAACTAGCCCCAGCTCCCAAACCTTACTCCATCCCTTACTACAATCTGTCACTCTCTCAACTCTTCTTCCCATAGCTCCGCATCCTCTGGCCTAGCCTTCCAACTCTTCTACCCCAGTCAGTGAAACCATAATTCTGTAATTCCTTTATGGTGCCCCTTAGCCTTTAGGCACCTGTTAAATGCCAAGAATGCAATCTCAGCATTCCTTATTATCCATAGAGGTAAAGCCCCCTGAGGCCAGGTGGTGGTGGGGATGCTGAGGAGGGAGCCGTTCAGCCCCTAGCACAGTGCCTGTCTTAACCTGACCTCAATAAATATTTGTTGAATGAAAGACTGTCCTACGGAGGTGGCTCTCAGGTTACAAGTGTTGGAACTGTGAGGTCTAAACACCCCCCTGCACAAGGAGATTCTCTTTGTTGACAATCTTTGATGGGTTGGGGCTACTTTTCTAAGGTGGTTTCCTTACCAGCTGCTGCTCTATGCCGCGCTACCAAGACAAGTATGGCCCTCTCTGTAACTACCTGTTGTCTCTCCAGCTGTCTATCCACGAGCGAGAAGACAGCCCCCAGAGCCACGTGCTGGTGATGAAGGGGGCCCCAGAGCGCATTCTGGACCGGTGCTCCACCATCCTGGTGCAGGGCAAGGAGATCCCGCTCGACAAGGAGATGCAAGATGCCTTTCAAAATGCCTACATGGAGCTGGGGGGACTTGGGGAGCGTGTGCTGGGTGAGAGGCCAGAAACAGGAGGCTCAGAAGGGGATTCCCAAGCCTCTGCGGCATCCCTGGGGTGGGGGACTGTGGGGGCGTCCAGGAAGCCACTCTGCGGATCTCACTGATCCCTTCTGCCCCCCTTTAGGATTCTGTCAACTGAATCTGCCATCTGGAAAGTTTCCTCGGGGCTTCAAATTCGACACGGATGAGCTGAACTTTCCCACGGAGAAGCTTTGCTTTGTGGGGCTCATGTCTATGATTGACCCTCCCCGGGCTGCTGTGCCAGATGCTGTGGGCAAGTGCCGAAGCGCAGGCATCAAGGTACTGGCCTCCCATCCTCCCCTCCATTCTAGCCTCCCCCATGCCAGAGTTCAAGGAGCTGCAGTGGCTGCTGCCCTGGAAAGGCCCAGGCCACGGTGGCCTCCTTCCCACTGACTCAGAGAAGAAGCTGTCCATCTGCAAGGAAAGGCCCACCCCTGCCTTGGGGCACTCACCCTTATCCCTTTTGCTCAGAGAGGCCAGTGTCCCATGCCCCTCCTCTCCCTCCCTGGCACAGCTCTTTGTCCCATCTGCATGTGTACCCTTCCATTCTGATTTGAAGCATAATCTGGCACTCCTATCTTGAAGACCTAGTTGTCCTACCCTTCCCAACTACTGCCCACCCTCTCTGTCAACTTAGGATGGGATTAGCAGGCTCTTGTATGCTCCCAGTGGCTCAGCCCATAACCCCACAGAATGCCTCCCACTCAAGGTTCTCTTGTTCAACTACAATTGCTTCTCACTGACCACTCCCTCCTCTGTGCTATGTTTGTTCTTCATTCAACAAATATTTACTGTTTACTATGTTTCAGACACTGTGCAAGGTGCAAACTCTAGCACCTTGCACAGTGCCTGATACATAGTAAACAATTTGTGTCACATGACACATCTAGATGGGACAATGAGCTGTGCCAGGGAGGACACATATAAATCAGGCACTATTCTAAGCACTAAACCTCTATGATTTCATTTAATCTACGCAACAACCCTGTGAATAAGCACCAGTATTTTTCCTTTTTTACAAAGAGGGAAACTGAGGCACAAAGTAACATGCCAAGGCCACACAGCTAGTGTAAGTCATAGAGCAGGTACTTGAACCAAGGCAGTCTGCTATTTCTTAACTATCATACCAGGAGACTTGTTTCTGTGGGTGTATGTGGTTTCTGAACCCCATAACCACTCTGTCTCCGAGGCAGGCATCATTATCCCTGTTAAAAGTAAAACAAGGCTGGGCACAGTGGCTCATGCCTGTAATCCCAGCACTTTGGGGGGGTCCAAGGCTGGTGGATCACCTGAGATAAGGAGTCCAAGACCAGCCTGGCCAACATGGTGAAACCCCGTCTCTACTGAAAAAAAAATACAAAAATTAGCCACGTGTAGTGGCAGGTGCCTGTAATCCCAGCTCCTTGGGAGGCTGAGGCAGGAGAATCACTTGAACCCGGGAGGCAGAGGTTGCAGTGAGCCGAGATTAGGCCACTGCACTCCAGCCTAGGCGACAAGAGCAAGACTCCATCTCAAAAAAAAAAAAAAAGTAAAACAAATGGAAACTGCAAGTGGGTAAGTCTTTTCCCCAAAATAAAACCACCAGTAAGTGATGGACTGGGACTATGAAGCATGATCTGCTTGACCGGAAAGCCTGAGCTCCTGCTGCTTGGCCAGGTGCCTCTCTCTGTGATCAGAACCATCACGGAGGCCTGGGCAGAGGACCTCTATGGGAAGTCAGCTCAGGGAAGCATTAATTCTGCCTCAGAGAACTGGACGATGTTTGACAAAAGGAATGATATTTGAGCTGGGCTTTGGAGGTCAAAGAGTATTCTGCAAAGCAGTGAGGGAGAGGAAGGCATGTCAAGATCAGGGAACAGTGTGTACCCTGGCGTGGCTAGACTGTACGGAGCGTGTGTAGGGGTTGGCAGGGGAGAGGTGGCAAGGAGTACTGGGGGTTGAGACTGGAACACTGGGTCAGAGCCAGTTGGAAGGACTTGGCTTAAATGCCAGACTTGGGCTTTATCCTGCAGGCCACAGAGAGCCATCAGTGTCACGGGGGAGGTTGAGCTTTTAGGAGACTACCTGGTTTGAGGAGGGACTGGATTTGGGGAAGAACTGGAGTCAGGGAGAGACAGGTTAAGAGGCCATTGCCATAGTTCAGGCAAAGAATGATGACCTGAACTAGGGCAGAAACAAAGGGAATGGAGAGGAATAGCCATGTCTGAGAAATGTTTTGAGAACTTGGTGACCAAACTGGATATGGAAGGTGAGGAAGATACAGGAGAGAAGGGGACAGGATGAATAGAGAGGACAACATCTAAGGTAGGGAGCAG
TCAAGTTAGTGGAGTAGAATCAGGGGAGGAGGAATGGAGCCACGGTCTAGGGTAAGGTTATGGCCATCTCCGGCTTCAGCCTTAACCTTTTTTATTCTCCTCTTTCTCTACCAGGTGTGCCTGACCCTGACAGCCAAGCGCATGGCACGGAAGAACTGCCTGGTGAAGAACCTGGAGGCGGTGGAGACGCTGGGCTCCACGTCCACCATCTGCTCGGACAAGACGGGCACCCTCACCCAGAACCGCATGACCGTCGCCCACATGTGGTTCGACAACCAAATCCATGAGGCTGACACCACCGAAGATCAGTCTGGTGATTGGGTGCTCCAGAGGGGGTGGATAGGATTAGAGGAGGCTGAGGGCAGTGGCGTGGTGGGGTGAGTGGTTGAGATAAAGGCTCTAAAGGGAGCCACGCTCCTGGTTCCCCCTCATTTCCTCCCAGGGGCCACTTTTGACAAACGATCCCCTACGTGGACGGCCCTGTCTCGAATTGCTGGTCTCTGCAACCGCGCCGTCTTCAAGGCAGGACAGGAGAACATCTCCGTGTCTAAGGTAGGGGGTCAGGACACACACCAGGTATGTTTTGGGGGTGTCTCCAAAGCCTCTTGCTGGCCCCAGCTTTCCTTCTCACATGATGTGGCTGCCTTGGGGGTTTCAGTGCCGCCTTCACCTGATCCTCCACTCCCTTCCCTCCCATGCTGACACTGAATTCTTGTCTCTTCTGGCAGCGGGACACAGCTGGTGATGCCTCTGAGTCAGCTCTGCTCAAGTGCATTGAGCTCTCCTGTGGCTCAGTGAGGAAAATGAGAGACAGAAACCCCAAGGTGGCAGAGATTCCTTTCAACTCTACCAACAAGTACCAGGTCTGCTTGGGTTGCCAGGACAGAGGAAGAGAGAGGGATATAAATGGGTGAGGGTGGACAAAGCCAAGGGGAATCATCACTAGCAGGAGTGGGGGTGTCTGAGGGTCATGTTCCCTCCCCCTGCTAAGTCCCCCAGGACAGCTCATATGACTGCATGTCTGATTGCAACTAGCCCCAGCTCCCAAACCTTACTCCATCCCTTACTACAATCTGTCACTCTCTCAACTCTTCTTCCCATAGCTCCGCATCCTCTGGCCTAGCCTTCCAACTCTTCTACCCCAGTCAGTGAAACCATAATTCTGTAATTCCTTTATGGTGCCCCTTAGCCTTTAGGCACCTGTTAAATGCCAAGAATGCAATCTCAGCATTCCTTATTATCCATAGAGGTAAAGCCCCCTGAGGCCAGGTGGTGGTGGGGATGCTGAGGAGGGAGCCGTTCAGCCCCTAGCACAGTGCCTGTCTTAACCTGACCTCAATAAATATTTGTTGAATGAAAGACTGTCCTACGGAGGTGGCTCTCAGGTTACAAGTGTTGGAACTGTGAGGTCTAAACACCCCCCTGCACAAGGAGATTCTCTTTGTTGACAATCTTTGATGGGTTGGGGCTACTTTTCTAAGGTGGTTTCCTTACCAGCTGCTGCTCTATGCCGCGCTACCAAGACAAGTATGGCCCTCTCTGTAACTACCTGTTGTCTCTCCAGCTGTCTATCCACGAGCGAGAAGACAGCCCCCAGAGCCACGTGCTGGTGATGAAGGGGGCCCCAGAGCGCATTCTGGACCGGTGCTCCACCATCCTGGTGCAGGGCAAGGAGATCCCGCTCGACAAGGAGATGCAAGATGCCTTTCAAAATGCCTACATGGAGCTGGGGGGACTTGGGGAGCGTGTGCTGGGTGAGAGGCCAGAAACAGGAGGCTCAGAAGGGGATTCCCAAGCCTCTGCGGCATCCCTGGGGTGGGGGACTGTGGGGGCGTCCAGGAAGCCACTCTGCGGATCTCACTGATCCCTTCTGCCCCCCTTTAGGATTCTGTCAACTGAATCTGCCATCTGGAAAGTTTCCTCGGGGCTTCAAATTCGACACGGATGAGCTGAACTTTCCCACGGAGAAGCTTTGCTTTGTGGGGCTCATGTCTATGATTGACCCTCCCCGGGCTGCTGTGCCAGATGCTGTGGGCAAGTGCCGAAGCACAGGCATCAAGGTACTGGCCTCCCATCCTCCCCTCCATTCTAGCCTCCCCCATGCCAGAGTTCAAGGAGCTGCAGTGGCTGCTGCCCTGGAAAGGCCCAGGCCACGGTGGCCTCCTTCCCACTGACTCAGAGAAGAAGCTGTCCATCTGCAAGGAAAGGCCCACCCCTGCCTTGGGGCACTCACCCTTATCCCTTTTGCTCAGAGAGGCCAGTGTCCCATGCCCCTCCTCTCCCTCCCTGGCACAGCTCTTTGTCCCATCTGCATGTGTACCCTTCCATTCTGATTTGAAGCATAATCTGGCACTCCTATCTTGAAGACCTAGTTGTCCTACCCTTCCCAACTACTGCCCACCCTCTCTGTCAACTTAGGATGGGATTAGCAGGCTCTTGTATGCTCCCAGTGGCTCAGCCCATAACCCCACAGAATGCCTCCCACTCAAGGTTCTCTTGTTCAACTACAATTGCTTCTCACTGACCACTCCCTCCTCTGTGCTATGTTTGTTCTTCATTCAACAAATATTTACTGTTTACTATGTTTCAGACACTGTGCAAGGTGCAAACTCTAGCACCTTGCACAGTGCCTGATACATAGTAAACAATTTGTGTCACATGACACATCTAGATGGGACAATGAGCTGTGCCAGGGAGGACACATATAAATCAGGCACTATTCTAAGCACTAAACCTCTATGATTTCATTTAATCTACGCAACAACCCTGTGAATAAGCACCAGTATTTTTCCTTTTTTACAAAGAGGGAAACTGAGGCACAAAGTAACATGCCAAGGCCACACAGCTAGTGTAAGTCATAGAGCAGGTACTTGAACCAAGGCAGTCTGCTATTTCTTAACTATCATACCAGGAGACTTGTTTCTGTGGGTGTATGTGGTTTCTGAACCCCATAACCACTCTGTCTCCGAGGCAGGCATCATTATCCCTGTTAAAAGTAAAACAAGGCTGGGCACAGTGGCTCATGCCTGTAATCCCAGCACTTTGGGGGGGTCCAAGGCTGGTGGATCACCTGAGATAAGGAGTCCAAGACCAGCCTGGCCAACATGGTGAAACCCCGTCTCTACTGAAAAAAAAATACAAAAATTAGCCACGTGTAGTGGCAGGTGCCTGTAATCCCAGCTCCTTGGGAGGCTGAGGCAGGAGAATCACTTGAACCCGGGAGGCAGAGGTTGCAGTGAGCCGAGATTAGGCCACTGCACTCCAGCCTAGGCGACAAGAGCAAGACTCCATCTCAAAAAAAAAAAAAAAGTAAAACAAATGGAAACTGCAAGTGGGTAAGTCTTTTCCCCAAAATAAAACCACCAGTAAGTGATGGACTGGGACTATGAAGCATGATCTGCTTGACCGGAAAGCCTGAGCTCCTGCTGCTTGGCCAGGTGCCTCTCTCTGTGATCAGAACCATCACGGAGGCCTGGGCAGAGGACCTCTATGGGAAGTCAGCTCAGGGAAGCATTAATTCTGCCTCAGAGAACTGGACGATGTTTGACAAAAGGAATGATATTTGAGCTGGGCTTTGGAGGTCAAAGAGTATTCTGCAAAGCAGTGAGGGAGAGGAAGGCATGTCAAGATCAGGGAACAGTGTGTACCCTGGCGTGGCTAGACTGTACGGAGCGTGTGTAGGGGTTGGCAGGGGAGAGGTGGCAAGGAGTACTGGGGGTTGAGACTGGAACACTGGGTCAGAGCCAGTTGGAAGGACTTGGCTTAAATGCCAGACTTGGGCTTTATCCTGCAGGCCACAGAGAGCCATCAGTGTCACGGGGGAGGTTGAGCTTTTAGGAGACTACCTGGTTTGAGGAGGGACTGGATTTGGGGAAGAACTGGAGTCAGGGAGAGACAGGTTAAGAGGCCATTGCCATAGTTCAGGCAAAGAATGATGACCTGAACTAGGGCAGAAACAAAGGGAATGGAGAGGAATAGCCATGTCTGAGAAATGTTTTGAGAACTTGGTGACCAAACTGGATATGGAAGGTGAGGAAGATACAGGAGAGAAGGGGACAGGATGAATAGAGAGGACAACATCTAAGGTAGGGAGCAG
Task1_train_1949
A variant was discovered in gene ATP1A2 (ATPase Na+/K+ transporting subunit alpha 2), Chromosome 1. Please indicate if this mutation results in a known disease or if it's non-harmful.
Pathogenic; Familial hemiplegic migraine
GAAACAAAGGGAATGGAGAGGAATAGCCATGTCTGAGAAATGTTTTGAGAACTTGGTGACCAAACTGGATATGGAAGGTGAGGAAGATACAGGAGAGAAGGGGACAGGATGAATAGAGAGGACAACATCTAAGGTAGGGAGCAGTAGCAGGCTTGGTGGGGTGGCAGGAGTAGAGAAAAGGAGTTCAATGTTGACCTTAAGCTTAAAGAGTCTATAAGATACCCCAGGAAAGACAGATGTTCCAGTGAACATTGGAGTATGGTTTAGAGCTCATGAAAGATGGTCAGGACTGGAGATTTGAATCTCATTAGCACAAGGGTGCAAACTAAAGGCTTATAGTATGTTGTATTATATTGCCCAGAAAGAGCAGACAGGTCAAGTGAAGGGAGGAGAATGAAATCCTGTGCCAAACCAACATTTAGGCACAAGAGGAACCAGTGAGGAGGGGAGAGGGTGGTAGGAACCAATGCCATTTAATCTTCATGACCACCTAGAAAGGCAGGAATCATCTCTGCATTGTGCTGAGACCTCAGTGCTTCACTTGCCTAAGGTGCTGTAGCTGGAGAAGGTCGGTGTTTAAACTTGAGCCCCTCATTCAACTCCAAAGCCACTGCTTCTTCCATCCTACTAGGCTGCCACCCTGAGAGGCTGGGAAAGAGCATGCAGAGGAGTGGAGGGAAAACAGGAATGGAGGAGTATGTGGAAGCCAGGGGAGGGCAGGGTTTCAAGGAGAAGAGGTCAACGGTGCCAAATGCCTCAGAGGGGTCAAGTAGGATGAGGACGGCAAAGACACTTTTCATTTTTCAATTGAGAGGCCCCTGTGGCCTTTGGGTGGCAGTTTCAGTGAAGTGGTGGGAGTGGAAGATAAGGCAGTGGGGACCATGGAGGCTTCCTTTTCAGTATCCATAGGACTTGCCCTGCAAGCCCACACATGCAAATGCTATCCTAACCCAACTCTGCTCACCTCATAGCCTCTTAGCCCATCAGATGCCAGCCACCCTCCCCATCCCAACTCCATTCACTCTGCAACAATAGCAATGAACATTATGGTGAAGGTAGGGACCACCGTGCTCACCAGGGAGGATGTCAGAGGCAGATGCTCAAGGTGGTGGAGGCAGGGGTGTTGTCTCCATCTTATTCCTGTTCTGTCCATTACATTGCTGCAGTGATCAATATTTGACACTAAGAACCTCATGTCCTATATCCAGGTCCCTGTGCATTTGAGCAAATTGTAGCCCCTCTCTAAGCCTTGGTTTCCTCATGTGTAAAATAAAGGAGTTGTTAAAGGGTCCTTCCAGCTCTGACTGCCTTGAATCCCATGAAATCCAAAATCCTAAAATATCTCCTAAATAATCCTAAAGATTTGAGGCTTCTCTTCCAGGGGATCCTCATGAACTTGTTACTCTGTTATGGATACTTTCCTGCACTTAAGCAAACTATCTCTCTCTAACCCTCTGAACATAACTCAACTTGCCATTATCTTTCCTCCTCACCCACCCACTCAAATTCACACAGACACACACAAATCCCCACCTCACATACACACACATCCCACACACACACATAGACACACACAATCCCCACCCCCCACACACACATCTCACACACACGCACACATACACAAATCCCCACCCCACATACACACACACACACATACCCCACACACACACACACATCCCACACACACACATTCCCTCTCACACACACACACAATCCCCACCCCCTCACACACACACAATCCCCACCCACACACACACACACACATCCTACACACACATACACACACCCCACACACACACACATACACACACACACATACACCCCACCCCAGCCACTCCCCTGCCCACAGACGCACACACACATGCCCTTATTTCGGTTGGGATCTGCCATCCCCAGACATCTCGCTATCTAGCTTTCTCTTACTTTGGGAGAGGAACAGGAGGGGGATAAACCCTTAATACTACTTTCCTGTTGTCTCCTCTCCTTCCCACTAGGTGATCATGGTAACCGGGGATCACCCTATCACAGCCAAGGCCATTGCCAAAGGCGTGGGCATCATATCAGAGGGTAACGAGACTGTGGAGGACATTGCAGCCCGGCTCAACATTCCCATGAGTCAAGTCAACCCCAGGTGAGGCCTCTGCAGGAAGCCCCTGTGCCCTAATCAACACGTCCTCTTGCACAGAAGGCTTGGGTGTCCCCTGGGAGTATTTGGATAGCATTTCTGGGACCTTTATAGGCCTTACCTCTGACACTATTGTGACTGGTTCCTCAGCCCTGAGCTTGTATCCAGGCTGTGCCACTGAATACCCATGTAACCTTGGAGATGTCACATTCCCTTCCTGAGCCTCCATTTTCTCACCACAAAATTAGGATGCCATCTCCACTGCTGTAGGAGTGGGATGTGAGTAAAGAAACTAGCCCAGGGCCTAGCAAACTGCACTTACAACTGCGATGATCCCATGGTGAGGATTTAGACTCACATTCTCAAAGAGAAATGGGGGAAGTGAGTACTGAGGAGAGGAGAACTGAAGCAACAGGGGAAGCAGGCTCAGCAGGGAGCCTGCAGGCTGCGGTGGTGAAGAGAGGCAGGGGGCAGGAGGGGCTGGTACAGGTGCCAGGGGTCAGCTGTCTCTGTCCCCACCCACCCTCCAGAGAAGCCAAGGCATGCGTGGTGCACGGCTCTGACCTGAAGGACATGACATCGGAGCAGCTCGATGAGATCCTCAAGAACCACACAGAGATCGTCTTTGCTCGAACGTCTCCCCAGCAGAAGCTCATCATTGTGGAGGGATGTCAGAGGCAGGTGAGCACAGCCACGGGAGGCAGATGACAGGCAGGGACCGGGGAGGCAGGGACAGGGCCAAGACAAGCATGGAGTGAGAGGCGAGGAGCCAGGCTTGGGAAGGGGTTTCGTCCTCAAGTGTGGCCGTCTTCCCTCCAGGGAGCCATTGTGGCCGTGACGGGTGACGGGGTGAACGACTCCCCTGCATTGAAGAAGGCTGACATTGGCATTGCCATGGGCATCTCTGGCTCTGACGTCTCTAAGCAGGCAGCCGACATGATCCTGCTGGATGACAACTTTGCCTCCATCGTCACGGGGGTGGAGGAGGGTGAGGAGGCTGCATGGGTTGGGATGGTTTGCAGGATACTGAAGCCGGCACCTCTGTTCCCTGTCCCTTTACCCCAGTTGAAGAATCATTCCACAACTCTAGGCAGCCCAGCCCACTTTAGCTTCCCTTGAACACAAAATCTTCCTCTCTTGGGAAGACAGGCAGCCATGCTTCAGGGGCTGGGGGTGGGGAAGAGTCCCTCTGACCTCCCTGATGCCCTCAGAATCTCCCCACAGGCCGCCTGATCTTTGACAACTTGAAGAAATCCATCGCCTACACCCTGACCAGCAACATCCCCGAGATCACCCCCTTCCTGCTGTTCATCATTGCCAACATCCCCCTACCTCTGGGCACTGTGACCATCCTTTGCATTGACCTGGGCACAGATATGGTGAGCGCAGGAGGTGGAGGAGGGGACAGGCAAGGCAATCGTGATGGCACAGTGGCAGGGAGGAGAGGTGCACTGGGGCAGTGGCCCCAGCTGTGGGGGTTACAGGAGACAGGCACAGGCCTGGAAGACAATGGGGTCTGAATACACGCTTTTTTAACTGTGTCAACGATCGTCACTGTCGAAGATCAATTGCTTCTGTCATCTCCTACGTCCCTTCAAATGCCCTCCCTGCCCCATTTCCTACCCCACACAGGTCCCTGCCATCTCCTTGGCCTATGAGGCAGCTGAGAGTGATATCATGAAGCGGCAGCCACGAAACTCCCAGACGGACAAGCTGGTGAATGAGAGGCTCATCAGCATGGCCTACGGACAGATCGGTGCGCCAAGCCCCGGGCCTCGGGAGGGAACCCCAACAGGGTTCTTTTCCCAGCTTTCAGAGGAATGAGCCCCAAGCAAAATTCCAGGACAGAGGCCAGCTACCCAAGGGTCAGGGACCTCCATCTCTGGCCCTGAGGGGCTGTGCCCCTTCTGCTTCCTGCTCTGACCCTGCCCCTGCCTTTGGCCCTCTACCCACAGGGATGATCCAGGCACT
GAAACAAAGGGAATGGAGAGGAATAGCCATGTCTGAGAAATGTTTTGAGAACTTGGTGACCAAACTGGATATGGAAGGTGAGGAAGATACAGGAGAGAAGGGGACAGGATGAATAGAGAGGACAACATCTAAGGTAGGGAGCAGTAGCAGGCTTGGTGGGGTGGCAGGAGTAGAGAAAAGGAGTTCAATGTTGACCTTAAGCTTAAAGAGTCTATAAGATACCCCAGGAAAGACAGATGTTCCAGTGAACATTGGAGTATGGTTTAGAGCTCATGAAAGATGGTCAGGACTGGAGATTTGAATCTCATTAGCACAAGGGTGCAAACTAAAGGCTTATAGTATGTTGTATTATATTGCCCAGAAAGAGCAGACAGGTCAAGTGAAGGGAGGAGAATGAAATCCTGTGCCAAACCAACATTTAGGCACAAGAGGAACCAGTGAGGAGGGGAGAGGGTGGTAGGAACCAATGCCATTTAATCTTCATGACCACCTAGAAAGGCAGGAATCATCTCTGCATTGTGCTGAGACCTCAGTGCTTCACTTGCCTAAGGTGCTGTAGCTGGAGAAGGTCGGTGTTTAAACTTGAGCCCCTCATTCAACTCCAAAGCCACTGCTTCTTCCATCCTACTAGGCTGCCACCCTGAGAGGCTGGGAAAGAGCATGCAGAGGAGTGGAGGGAAAACAGGAATGGAGGAGTATGTGGAAGCCAGGGGAGGGCAGGGTTTCAAGGAGAAGAGGTCAACGGTGCCAAATGCCTCAGAGGGGTCAAGTAGGATGAGGACGGCAAAGACACTTTTCATTTTTCAATTGAGAGGCCCCTGTGGCCTTTGGGTGGCAGTTTCAGTGAAGTGGTGGGAGTGGAAGATAAGGCAGTGGGGACCATGGAGGCTTCCTTTTCAGTATCCATAGGACTTGCCCTGCAAGCCCACACATGCAAATGCTATCCTAACCCAACTCTGCTCACCTCATAGCCTCTTAGCCCATCAGATGCCAGCCACCCTCCCCATCCCAACTCCATTCACTCTGCAACAATAGCAATGAACATTATGGTGAAGGTAGGGACCACCGTGCTCACCAGGGAGGATGTCAGAGGCAGATGCTCAAGGTGGTGGAGGCAGGGGTGTTGTCTCCATCTTATTCCTGTTCTGTCCATTACATTGCTGCAGTGATCAATATTTGACACTAAGAACCTCATGTCCTATATCCAGGTCCCTGTGCATTTGAGCAAATTGTAGCCCCTCTCTAAGCCTTGGTTTCCTCATGTGTAAAATAAAGGAGTTGTTAAAGGGTCCTTCCAGCTCTGACTGCCTTGAATCCCATGAAATCCAAAATCCTAAAATATCTCCTAAATAATCCTAAAGATTTGAGGCTTCTCTTCCAGGGGATCCTCATGAACTTGTTACTCTGTTATGGATACTTTCCTGCACTTAAGCAAACTATCTCTCTCTAACCCTCTGAACATAACTCAACTTGCCATTATCTTTCCTCCTCACCCACCCACTCAAATTCACACAGACACACACAAATCCCCACCTCACATACACACACATCCCACACACACACATAGACACACACAATCCCCACCCCCCACACACACATCTCACACACACGCACACATACACAAATCCCCACCCCACATACACACACACACACATACCCCACACACACACACACATCCCACACACACACATTCCCTCTCACACACACACACAATCCCCACCCCCTCACACACACACAATCCCCACCCACACACACACACACACATCCTACACACACATACACACACCCCACACACACACACATACACACACACACATACACCCCACCCCAGCCACTCCCCTGCCCACAGACGCACACACACATGCCCTTATTTCGGTTGGGATCTGCCATCCCCAGACATCTCGCTATCTAGCTTTCTCTTACTTTGGGAGAGGAACAGGAGGGGGATAAACCCTTAATACTACTTTCCTGTTGTCTCCTCTCCTTCCCACTAGGTGATCATGGTAACCGGGGATCACCCTATCACAGCCAAGGCCATTGCCAAAGGCATGGGCATCATATCAGAGGGTAACGAGACTGTGGAGGACATTGCAGCCCGGCTCAACATTCCCATGAGTCAAGTCAACCCCAGGTGAGGCCTCTGCAGGAAGCCCCTGTGCCCTAATCAACACGTCCTCTTGCACAGAAGGCTTGGGTGTCCCCTGGGAGTATTTGGATAGCATTTCTGGGACCTTTATAGGCCTTACCTCTGACACTATTGTGACTGGTTCCTCAGCCCTGAGCTTGTATCCAGGCTGTGCCACTGAATACCCATGTAACCTTGGAGATGTCACATTCCCTTCCTGAGCCTCCATTTTCTCACCACAAAATTAGGATGCCATCTCCACTGCTGTAGGAGTGGGATGTGAGTAAAGAAACTAGCCCAGGGCCTAGCAAACTGCACTTACAACTGCGATGATCCCATGGTGAGGATTTAGACTCACATTCTCAAAGAGAAATGGGGGAAGTGAGTACTGAGGAGAGGAGAACTGAAGCAACAGGGGAAGCAGGCTCAGCAGGGAGCCTGCAGGCTGCGGTGGTGAAGAGAGGCAGGGGGCAGGAGGGGCTGGTACAGGTGCCAGGGGTCAGCTGTCTCTGTCCCCACCCACCCTCCAGAGAAGCCAAGGCATGCGTGGTGCACGGCTCTGACCTGAAGGACATGACATCGGAGCAGCTCGATGAGATCCTCAAGAACCACACAGAGATCGTCTTTGCTCGAACGTCTCCCCAGCAGAAGCTCATCATTGTGGAGGGATGTCAGAGGCAGGTGAGCACAGCCACGGGAGGCAGATGACAGGCAGGGACCGGGGAGGCAGGGACAGGGCCAAGACAAGCATGGAGTGAGAGGCGAGGAGCCAGGCTTGGGAAGGGGTTTCGTCCTCAAGTGTGGCCGTCTTCCCTCCAGGGAGCCATTGTGGCCGTGACGGGTGACGGGGTGAACGACTCCCCTGCATTGAAGAAGGCTGACATTGGCATTGCCATGGGCATCTCTGGCTCTGACGTCTCTAAGCAGGCAGCCGACATGATCCTGCTGGATGACAACTTTGCCTCCATCGTCACGGGGGTGGAGGAGGGTGAGGAGGCTGCATGGGTTGGGATGGTTTGCAGGATACTGAAGCCGGCACCTCTGTTCCCTGTCCCTTTACCCCAGTTGAAGAATCATTCCACAACTCTAGGCAGCCCAGCCCACTTTAGCTTCCCTTGAACACAAAATCTTCCTCTCTTGGGAAGACAGGCAGCCATGCTTCAGGGGCTGGGGGTGGGGAAGAGTCCCTCTGACCTCCCTGATGCCCTCAGAATCTCCCCACAGGCCGCCTGATCTTTGACAACTTGAAGAAATCCATCGCCTACACCCTGACCAGCAACATCCCCGAGATCACCCCCTTCCTGCTGTTCATCATTGCCAACATCCCCCTACCTCTGGGCACTGTGACCATCCTTTGCATTGACCTGGGCACAGATATGGTGAGCGCAGGAGGTGGAGGAGGGGACAGGCAAGGCAATCGTGATGGCACAGTGGCAGGGAGGAGAGGTGCACTGGGGCAGTGGCCCCAGCTGTGGGGGTTACAGGAGACAGGCACAGGCCTGGAAGACAATGGGGTCTGAATACACGCTTTTTTAACTGTGTCAACGATCGTCACTGTCGAAGATCAATTGCTTCTGTCATCTCCTACGTCCCTTCAAATGCCCTCCCTGCCCCATTTCCTACCCCACACAGGTCCCTGCCATCTCCTTGGCCTATGAGGCAGCTGAGAGTGATATCATGAAGCGGCAGCCACGAAACTCCCAGACGGACAAGCTGGTGAATGAGAGGCTCATCAGCATGGCCTACGGACAGATCGGTGCGCCAAGCCCCGGGCCTCGGGAGGGAACCCCAACAGGGTTCTTTTCCCAGCTTTCAGAGGAATGAGCCCCAAGCAAAATTCCAGGACAGAGGCCAGCTACCCAAGGGTCAGGGACCTCCATCTCTGGCCCTGAGGGGCTGTGCCCCTTCTGCTTCCTGCTCTGACCCTGCCCCTGCCTTTGGCCCTCTACCCACAGGGATGATCCAGGCACT
Task1_train_1950
Given this context: Chromosome 1, gene ATP1A2 (ATPase Na+/K+ transporting subunit alpha 2) — does this variant present pathogenic behavior, and if so, what disease does it relate to?
Pathogenic; Familial hemiplegic migraine
GCCCACACATGCAAATGCTATCCTAACCCAACTCTGCTCACCTCATAGCCTCTTAGCCCATCAGATGCCAGCCACCCTCCCCATCCCAACTCCATTCACTCTGCAACAATAGCAATGAACATTATGGTGAAGGTAGGGACCACCGTGCTCACCAGGGAGGATGTCAGAGGCAGATGCTCAAGGTGGTGGAGGCAGGGGTGTTGTCTCCATCTTATTCCTGTTCTGTCCATTACATTGCTGCAGTGATCAATATTTGACACTAAGAACCTCATGTCCTATATCCAGGTCCCTGTGCATTTGAGCAAATTGTAGCCCCTCTCTAAGCCTTGGTTTCCTCATGTGTAAAATAAAGGAGTTGTTAAAGGGTCCTTCCAGCTCTGACTGCCTTGAATCCCATGAAATCCAAAATCCTAAAATATCTCCTAAATAATCCTAAAGATTTGAGGCTTCTCTTCCAGGGGATCCTCATGAACTTGTTACTCTGTTATGGATACTTTCCTGCACTTAAGCAAACTATCTCTCTCTAACCCTCTGAACATAACTCAACTTGCCATTATCTTTCCTCCTCACCCACCCACTCAAATTCACACAGACACACACAAATCCCCACCTCACATACACACACATCCCACACACACACATAGACACACACAATCCCCACCCCCCACACACACATCTCACACACACGCACACATACACAAATCCCCACCCCACATACACACACACACACATACCCCACACACACACACACATCCCACACACACACATTCCCTCTCACACACACACACAATCCCCACCCCCTCACACACACACAATCCCCACCCACACACACACACACACATCCTACACACACATACACACACCCCACACACACACACATACACACACACACATACACCCCACCCCAGCCACTCCCCTGCCCACAGACGCACACACACATGCCCTTATTTCGGTTGGGATCTGCCATCCCCAGACATCTCGCTATCTAGCTTTCTCTTACTTTGGGAGAGGAACAGGAGGGGGATAAACCCTTAATACTACTTTCCTGTTGTCTCCTCTCCTTCCCACTAGGTGATCATGGTAACCGGGGATCACCCTATCACAGCCAAGGCCATTGCCAAAGGCGTGGGCATCATATCAGAGGGTAACGAGACTGTGGAGGACATTGCAGCCCGGCTCAACATTCCCATGAGTCAAGTCAACCCCAGGTGAGGCCTCTGCAGGAAGCCCCTGTGCCCTAATCAACACGTCCTCTTGCACAGAAGGCTTGGGTGTCCCCTGGGAGTATTTGGATAGCATTTCTGGGACCTTTATAGGCCTTACCTCTGACACTATTGTGACTGGTTCCTCAGCCCTGAGCTTGTATCCAGGCTGTGCCACTGAATACCCATGTAACCTTGGAGATGTCACATTCCCTTCCTGAGCCTCCATTTTCTCACCACAAAATTAGGATGCCATCTCCACTGCTGTAGGAGTGGGATGTGAGTAAAGAAACTAGCCCAGGGCCTAGCAAACTGCACTTACAACTGCGATGATCCCATGGTGAGGATTTAGACTCACATTCTCAAAGAGAAATGGGGGAAGTGAGTACTGAGGAGAGGAGAACTGAAGCAACAGGGGAAGCAGGCTCAGCAGGGAGCCTGCAGGCTGCGGTGGTGAAGAGAGGCAGGGGGCAGGAGGGGCTGGTACAGGTGCCAGGGGTCAGCTGTCTCTGTCCCCACCCACCCTCCAGAGAAGCCAAGGCATGCGTGGTGCACGGCTCTGACCTGAAGGACATGACATCGGAGCAGCTCGATGAGATCCTCAAGAACCACACAGAGATCGTCTTTGCTCGAACGTCTCCCCAGCAGAAGCTCATCATTGTGGAGGGATGTCAGAGGCAGGTGAGCACAGCCACGGGAGGCAGATGACAGGCAGGGACCGGGGAGGCAGGGACAGGGCCAAGACAAGCATGGAGTGAGAGGCGAGGAGCCAGGCTTGGGAAGGGGTTTCGTCCTCAAGTGTGGCCGTCTTCCCTCCAGGGAGCCATTGTGGCCGTGACGGGTGACGGGGTGAACGACTCCCCTGCATTGAAGAAGGCTGACATTGGCATTGCCATGGGCATCTCTGGCTCTGACGTCTCTAAGCAGGCAGCCGACATGATCCTGCTGGATGACAACTTTGCCTCCATCGTCACGGGGGTGGAGGAGGGTGAGGAGGCTGCATGGGTTGGGATGGTTTGCAGGATACTGAAGCCGGCACCTCTGTTCCCTGTCCCTTTACCCCAGTTGAAGAATCATTCCACAACTCTAGGCAGCCCAGCCCACTTTAGCTTCCCTTGAACACAAAATCTTCCTCTCTTGGGAAGACAGGCAGCCATGCTTCAGGGGCTGGGGGTGGGGAAGAGTCCCTCTGACCTCCCTGATGCCCTCAGAATCTCCCCACAGGCCGCCTGATCTTTGACAACTTGAAGAAATCCATCGCCTACACCCTGACCAGCAACATCCCCGAGATCACCCCCTTCCTGCTGTTCATCATTGCCAACATCCCCCTACCTCTGGGCACTGTGACCATCCTTTGCATTGACCTGGGCACAGATATGGTGAGCGCAGGAGGTGGAGGAGGGGACAGGCAAGGCAATCGTGATGGCACAGTGGCAGGGAGGAGAGGTGCACTGGGGCAGTGGCCCCAGCTGTGGGGGTTACAGGAGACAGGCACAGGCCTGGAAGACAATGGGGTCTGAATACACGCTTTTTTAACTGTGTCAACGATCGTCACTGTCGAAGATCAATTGCTTCTGTCATCTCCTACGTCCCTTCAAATGCCCTCCCTGCCCCATTTCCTACCCCACACAGGTCCCTGCCATCTCCTTGGCCTATGAGGCAGCTGAGAGTGATATCATGAAGCGGCAGCCACGAAACTCCCAGACGGACAAGCTGGTGAATGAGAGGCTCATCAGCATGGCCTACGGACAGATCGGTGCGCCAAGCCCCGGGCCTCGGGAGGGAACCCCAACAGGGTTCTTTTCCCAGCTTTCAGAGGAATGAGCCCCAAGCAAAATTCCAGGACAGAGGCCAGCTACCCAAGGGTCAGGGACCTCCATCTCTGGCCCTGAGGGGCTGTGCCCCTTCTGCTTCCTGCTCTGACCCTGCCCCTGCCTTTGGCCCTCTACCCACAGGGATGATCCAGGCACTGGGTGGCTTCTTCACCTACTTTGTGATCCTGGCAGAGAACGGTTTCCTGCCATCACGGCTACTGGGAATCCGCCTCGACTGGGATGACCGGACCATGAATGATCTGGAGGACAGCTATGGACAGGAGTGGGTGAGTGGTGCTGTGTAAACACAGCGCACATGTGTGAAGGTACGGGAAGCTGAATGCCTGGCAGGAGTGGCCAGTGGTGGCCAACTGGGACTGGGGCTAGGGGTGGATCAGGAGAAACCATGCTACCTTCTGGTCCTACCCTTTCCTCCGACACTCTCATCTGTCTCTGCCCACCCTCCCTCCAGACCTATGAGCAGCGGAAGGTGGTGGAGTTCACGTGCCACACGGCATTCTTTGCCAGCATCGTGGTGGTGCAGTGGGCTGACCTCATCATCTGCAAGACCCGCCGCAACTCAGTCTTCCAGCAGGGCATGAAGTGAGTGCCCACCCCCATGGCACCTACCCACCCAGGCTCTGGGCACACTCACCAACCCACACAGGCCAAGCTTCCAACTCAGCCCTGGACCAGAGCTGTAAGGAGGGCATCAGATTTTAATCTTCCATCTGTATATCCATAGATAGGTTTCATATAGAAGAGAGAAGCCATGCTTCAGGCTCCTAATTTTGCATTTTGTTATTGTCTCTCTCCACCTTTCTTCTCTCCTTCTCTCCCTCCCTTCTTTCCCCCATCTCCTACTTGAGTGCCACCTGCTCCTATCCTTTGCCCAGCCCTAAATCCAGTGTCTTCTGTGCCCACCCCTCCCCTGGCCTTCCGCAGGCAGTCTAGTTTATAGCACTTGCACTGTGGTTCTGGAGGCCACGTGCTGCCGAGGGTCGGGTTCAGCGCTTCTTGCAGTGTGAGTTCCAGCGTGCCAGGCACTGTGCTAAGTGCCTAACACATTGTTTAGCCCCA
GCCCACACATGCAAATGCTATCCTAACCCAACTCTGCTCACCTCATAGCCTCTTAGCCCATCAGATGCCAGCCACCCTCCCCATCCCAACTCCATTCACTCTGCAACAATAGCAATGAACATTATGGTGAAGGTAGGGACCACCGTGCTCACCAGGGAGGATGTCAGAGGCAGATGCTCAAGGTGGTGGAGGCAGGGGTGTTGTCTCCATCTTATTCCTGTTCTGTCCATTACATTGCTGCAGTGATCAATATTTGACACTAAGAACCTCATGTCCTATATCCAGGTCCCTGTGCATTTGAGCAAATTGTAGCCCCTCTCTAAGCCTTGGTTTCCTCATGTGTAAAATAAAGGAGTTGTTAAAGGGTCCTTCCAGCTCTGACTGCCTTGAATCCCATGAAATCCAAAATCCTAAAATATCTCCTAAATAATCCTAAAGATTTGAGGCTTCTCTTCCAGGGGATCCTCATGAACTTGTTACTCTGTTATGGATACTTTCCTGCACTTAAGCAAACTATCTCTCTCTAACCCTCTGAACATAACTCAACTTGCCATTATCTTTCCTCCTCACCCACCCACTCAAATTCACACAGACACACACAAATCCCCACCTCACATACACACACATCCCACACACACACATAGACACACACAATCCCCACCCCCCACACACACATCTCACACACACGCACACATACACAAATCCCCACCCCACATACACACACACACACATACCCCACACACACACACACATCCCACACACACACATTCCCTCTCACACACACACACAATCCCCACCCCCTCACACACACACAATCCCCACCCACACACACACACACACATCCTACACACACATACACACACCCCACACACACACACATACACACACACACATACACCCCACCCCAGCCACTCCCCTGCCCACAGACGCACACACACATGCCCTTATTTCGGTTGGGATCTGCCATCCCCAGACATCTCGCTATCTAGCTTTCTCTTACTTTGGGAGAGGAACAGGAGGGGGATAAACCCTTAATACTACTTTCCTGTTGTCTCCTCTCCTTCCCACTAGGTGATCATGGTAACCGGGGATCACCCTATCACAGCCAAGGCCATTGCCAAAGGCGTGGGCATCATATCAGAGGGTAACGAGACTGTGGAGGACATTGCAGCCCGGCTCAACATTCCCATGAGTCAAGTCAACCCCAGGTGAGGCCTCTGCAGGAAGCCCCTGTGCCCTAATCAACACGTCCTCTTGCACAGAAGGCTTGGGTGTCCCCTGGGAGTATTTGGATAGCATTTCTGGGACCTTTATAGGCCTTACCTCTGACACTATTGTGACTGGTTCCTCAGCCCTGAGCTTGTATCCAGGCTGTGCCACTGAATACCCATGTAACCTTGGAGATGTCACATTCCCTTCCTGAGCCTCCATTTTCTCACCACAAAATTAGGATGCCATCTCCACTGCTGTAGGAGTGGGATGTGAGTAAAGAAACTAGCCCAGGGCCTAGCAAACTGCACTTACAACTGCGATGATCCCATGGTGAGGATTTAGACTCACATTCTCAAAGAGAAATGGGGGAAGTGAGTACTGAGGAGAGGAGAACTGAAGCAACAGGGGAAGCAGGCTCAGCAGGGAGCCTGCAGGCTGCGGTGGTGAAGAGAGGCAGGGGGCAGGAGGGGCTGGTACAGGTGCCAGGGGTCAGCTGTCTCTGTCCCCACCCACCCTCCAGAGAAGCCAAGGCATGCGTGGTGCACGGCTCTGACCTGAAGGACATGACATCGGAGCAGCTCGATGAGATCCTCAAGAACCACACAGAGATCGTCTTTGCTCGAACGTCTCCCCAGCAGAAGCTCATCATTGTGGAGGGATGTCAGAGGCAGGTGAGCACAGCCACGGGAGGCAGATGACAGGCAGGGACCGGGGAGGCAGGGACAGGGCCAAGACAAGCATGGAGTGAGAGGCGAGGAGCCAGGCTTGGGAAGGGGTTTCGTCCTCAAGTGTGGCCGTCTTCCCTCCAGGGAGCCATTGTGGCCGTGACGGGTGACAGGGTGAACGACTCCCCTGCATTGAAGAAGGCTGACATTGGCATTGCCATGGGCATCTCTGGCTCTGACGTCTCTAAGCAGGCAGCCGACATGATCCTGCTGGATGACAACTTTGCCTCCATCGTCACGGGGGTGGAGGAGGGTGAGGAGGCTGCATGGGTTGGGATGGTTTGCAGGATACTGAAGCCGGCACCTCTGTTCCCTGTCCCTTTACCCCAGTTGAAGAATCATTCCACAACTCTAGGCAGCCCAGCCCACTTTAGCTTCCCTTGAACACAAAATCTTCCTCTCTTGGGAAGACAGGCAGCCATGCTTCAGGGGCTGGGGGTGGGGAAGAGTCCCTCTGACCTCCCTGATGCCCTCAGAATCTCCCCACAGGCCGCCTGATCTTTGACAACTTGAAGAAATCCATCGCCTACACCCTGACCAGCAACATCCCCGAGATCACCCCCTTCCTGCTGTTCATCATTGCCAACATCCCCCTACCTCTGGGCACTGTGACCATCCTTTGCATTGACCTGGGCACAGATATGGTGAGCGCAGGAGGTGGAGGAGGGGACAGGCAAGGCAATCGTGATGGCACAGTGGCAGGGAGGAGAGGTGCACTGGGGCAGTGGCCCCAGCTGTGGGGGTTACAGGAGACAGGCACAGGCCTGGAAGACAATGGGGTCTGAATACACGCTTTTTTAACTGTGTCAACGATCGTCACTGTCGAAGATCAATTGCTTCTGTCATCTCCTACGTCCCTTCAAATGCCCTCCCTGCCCCATTTCCTACCCCACACAGGTCCCTGCCATCTCCTTGGCCTATGAGGCAGCTGAGAGTGATATCATGAAGCGGCAGCCACGAAACTCCCAGACGGACAAGCTGGTGAATGAGAGGCTCATCAGCATGGCCTACGGACAGATCGGTGCGCCAAGCCCCGGGCCTCGGGAGGGAACCCCAACAGGGTTCTTTTCCCAGCTTTCAGAGGAATGAGCCCCAAGCAAAATTCCAGGACAGAGGCCAGCTACCCAAGGGTCAGGGACCTCCATCTCTGGCCCTGAGGGGCTGTGCCCCTTCTGCTTCCTGCTCTGACCCTGCCCCTGCCTTTGGCCCTCTACCCACAGGGATGATCCAGGCACTGGGTGGCTTCTTCACCTACTTTGTGATCCTGGCAGAGAACGGTTTCCTGCCATCACGGCTACTGGGAATCCGCCTCGACTGGGATGACCGGACCATGAATGATCTGGAGGACAGCTATGGACAGGAGTGGGTGAGTGGTGCTGTGTAAACACAGCGCACATGTGTGAAGGTACGGGAAGCTGAATGCCTGGCAGGAGTGGCCAGTGGTGGCCAACTGGGACTGGGGCTAGGGGTGGATCAGGAGAAACCATGCTACCTTCTGGTCCTACCCTTTCCTCCGACACTCTCATCTGTCTCTGCCCACCCTCCCTCCAGACCTATGAGCAGCGGAAGGTGGTGGAGTTCACGTGCCACACGGCATTCTTTGCCAGCATCGTGGTGGTGCAGTGGGCTGACCTCATCATCTGCAAGACCCGCCGCAACTCAGTCTTCCAGCAGGGCATGAAGTGAGTGCCCACCCCCATGGCACCTACCCACCCAGGCTCTGGGCACACTCACCAACCCACACAGGCCAAGCTTCCAACTCAGCCCTGGACCAGAGCTGTAAGGAGGGCATCAGATTTTAATCTTCCATCTGTATATCCATAGATAGGTTTCATATAGAAGAGAGAAGCCATGCTTCAGGCTCCTAATTTTGCATTTTGTTATTGTCTCTCTCCACCTTTCTTCTCTCCTTCTCTCCCTCCCTTCTTTCCCCCATCTCCTACTTGAGTGCCACCTGCTCCTATCCTTTGCCCAGCCCTAAATCCAGTGTCTTCTGTGCCCACCCCTCCCCTGGCCTTCCGCAGGCAGTCTAGTTTATAGCACTTGCACTGTGGTTCTGGAGGCCACGTGCTGCCGAGGGTCGGGTTCAGCGCTTCTTGCAGTGTGAGTTCCAGCGTGCCAGGCACTGTGCTAAGTGCCTAACACATTGTTTAGCCCCA
Task1_train_1951
An alteration has been detected in ATP1A2 (ATPase Na+/K+ transporting subunit alpha 2) on Chromosome 1. Is it pathogenic, and if so, what disease is involved?
Pathogenic; not provided
ATGCAAATGCTATCCTAACCCAACTCTGCTCACCTCATAGCCTCTTAGCCCATCAGATGCCAGCCACCCTCCCCATCCCAACTCCATTCACTCTGCAACAATAGCAATGAACATTATGGTGAAGGTAGGGACCACCGTGCTCACCAGGGAGGATGTCAGAGGCAGATGCTCAAGGTGGTGGAGGCAGGGGTGTTGTCTCCATCTTATTCCTGTTCTGTCCATTACATTGCTGCAGTGATCAATATTTGACACTAAGAACCTCATGTCCTATATCCAGGTCCCTGTGCATTTGAGCAAATTGTAGCCCCTCTCTAAGCCTTGGTTTCCTCATGTGTAAAATAAAGGAGTTGTTAAAGGGTCCTTCCAGCTCTGACTGCCTTGAATCCCATGAAATCCAAAATCCTAAAATATCTCCTAAATAATCCTAAAGATTTGAGGCTTCTCTTCCAGGGGATCCTCATGAACTTGTTACTCTGTTATGGATACTTTCCTGCACTTAAGCAAACTATCTCTCTCTAACCCTCTGAACATAACTCAACTTGCCATTATCTTTCCTCCTCACCCACCCACTCAAATTCACACAGACACACACAAATCCCCACCTCACATACACACACATCCCACACACACACATAGACACACACAATCCCCACCCCCCACACACACATCTCACACACACGCACACATACACAAATCCCCACCCCACATACACACACACACACATACCCCACACACACACACACATCCCACACACACACATTCCCTCTCACACACACACACAATCCCCACCCCCTCACACACACACAATCCCCACCCACACACACACACACACATCCTACACACACATACACACACCCCACACACACACACATACACACACACACATACACCCCACCCCAGCCACTCCCCTGCCCACAGACGCACACACACATGCCCTTATTTCGGTTGGGATCTGCCATCCCCAGACATCTCGCTATCTAGCTTTCTCTTACTTTGGGAGAGGAACAGGAGGGGGATAAACCCTTAATACTACTTTCCTGTTGTCTCCTCTCCTTCCCACTAGGTGATCATGGTAACCGGGGATCACCCTATCACAGCCAAGGCCATTGCCAAAGGCGTGGGCATCATATCAGAGGGTAACGAGACTGTGGAGGACATTGCAGCCCGGCTCAACATTCCCATGAGTCAAGTCAACCCCAGGTGAGGCCTCTGCAGGAAGCCCCTGTGCCCTAATCAACACGTCCTCTTGCACAGAAGGCTTGGGTGTCCCCTGGGAGTATTTGGATAGCATTTCTGGGACCTTTATAGGCCTTACCTCTGACACTATTGTGACTGGTTCCTCAGCCCTGAGCTTGTATCCAGGCTGTGCCACTGAATACCCATGTAACCTTGGAGATGTCACATTCCCTTCCTGAGCCTCCATTTTCTCACCACAAAATTAGGATGCCATCTCCACTGCTGTAGGAGTGGGATGTGAGTAAAGAAACTAGCCCAGGGCCTAGCAAACTGCACTTACAACTGCGATGATCCCATGGTGAGGATTTAGACTCACATTCTCAAAGAGAAATGGGGGAAGTGAGTACTGAGGAGAGGAGAACTGAAGCAACAGGGGAAGCAGGCTCAGCAGGGAGCCTGCAGGCTGCGGTGGTGAAGAGAGGCAGGGGGCAGGAGGGGCTGGTACAGGTGCCAGGGGTCAGCTGTCTCTGTCCCCACCCACCCTCCAGAGAAGCCAAGGCATGCGTGGTGCACGGCTCTGACCTGAAGGACATGACATCGGAGCAGCTCGATGAGATCCTCAAGAACCACACAGAGATCGTCTTTGCTCGAACGTCTCCCCAGCAGAAGCTCATCATTGTGGAGGGATGTCAGAGGCAGGTGAGCACAGCCACGGGAGGCAGATGACAGGCAGGGACCGGGGAGGCAGGGACAGGGCCAAGACAAGCATGGAGTGAGAGGCGAGGAGCCAGGCTTGGGAAGGGGTTTCGTCCTCAAGTGTGGCCGTCTTCCCTCCAGGGAGCCATTGTGGCCGTGACGGGTGACGGGGTGAACGACTCCCCTGCATTGAAGAAGGCTGACATTGGCATTGCCATGGGCATCTCTGGCTCTGACGTCTCTAAGCAGGCAGCCGACATGATCCTGCTGGATGACAACTTTGCCTCCATCGTCACGGGGGTGGAGGAGGGTGAGGAGGCTGCATGGGTTGGGATGGTTTGCAGGATACTGAAGCCGGCACCTCTGTTCCCTGTCCCTTTACCCCAGTTGAAGAATCATTCCACAACTCTAGGCAGCCCAGCCCACTTTAGCTTCCCTTGAACACAAAATCTTCCTCTCTTGGGAAGACAGGCAGCCATGCTTCAGGGGCTGGGGGTGGGGAAGAGTCCCTCTGACCTCCCTGATGCCCTCAGAATCTCCCCACAGGCCGCCTGATCTTTGACAACTTGAAGAAATCCATCGCCTACACCCTGACCAGCAACATCCCCGAGATCACCCCCTTCCTGCTGTTCATCATTGCCAACATCCCCCTACCTCTGGGCACTGTGACCATCCTTTGCATTGACCTGGGCACAGATATGGTGAGCGCAGGAGGTGGAGGAGGGGACAGGCAAGGCAATCGTGATGGCACAGTGGCAGGGAGGAGAGGTGCACTGGGGCAGTGGCCCCAGCTGTGGGGGTTACAGGAGACAGGCACAGGCCTGGAAGACAATGGGGTCTGAATACACGCTTTTTTAACTGTGTCAACGATCGTCACTGTCGAAGATCAATTGCTTCTGTCATCTCCTACGTCCCTTCAAATGCCCTCCCTGCCCCATTTCCTACCCCACACAGGTCCCTGCCATCTCCTTGGCCTATGAGGCAGCTGAGAGTGATATCATGAAGCGGCAGCCACGAAACTCCCAGACGGACAAGCTGGTGAATGAGAGGCTCATCAGCATGGCCTACGGACAGATCGGTGCGCCAAGCCCCGGGCCTCGGGAGGGAACCCCAACAGGGTTCTTTTCCCAGCTTTCAGAGGAATGAGCCCCAAGCAAAATTCCAGGACAGAGGCCAGCTACCCAAGGGTCAGGGACCTCCATCTCTGGCCCTGAGGGGCTGTGCCCCTTCTGCTTCCTGCTCTGACCCTGCCCCTGCCTTTGGCCCTCTACCCACAGGGATGATCCAGGCACTGGGTGGCTTCTTCACCTACTTTGTGATCCTGGCAGAGAACGGTTTCCTGCCATCACGGCTACTGGGAATCCGCCTCGACTGGGATGACCGGACCATGAATGATCTGGAGGACAGCTATGGACAGGAGTGGGTGAGTGGTGCTGTGTAAACACAGCGCACATGTGTGAAGGTACGGGAAGCTGAATGCCTGGCAGGAGTGGCCAGTGGTGGCCAACTGGGACTGGGGCTAGGGGTGGATCAGGAGAAACCATGCTACCTTCTGGTCCTACCCTTTCCTCCGACACTCTCATCTGTCTCTGCCCACCCTCCCTCCAGACCTATGAGCAGCGGAAGGTGGTGGAGTTCACGTGCCACACGGCATTCTTTGCCAGCATCGTGGTGGTGCAGTGGGCTGACCTCATCATCTGCAAGACCCGCCGCAACTCAGTCTTCCAGCAGGGCATGAAGTGAGTGCCCACCCCCATGGCACCTACCCACCCAGGCTCTGGGCACACTCACCAACCCACACAGGCCAAGCTTCCAACTCAGCCCTGGACCAGAGCTGTAAGGAGGGCATCAGATTTTAATCTTCCATCTGTATATCCATAGATAGGTTTCATATAGAAGAGAGAAGCCATGCTTCAGGCTCCTAATTTTGCATTTTGTTATTGTCTCTCTCCACCTTTCTTCTCTCCTTCTCTCCCTCCCTTCTTTCCCCCATCTCCTACTTGAGTGCCACCTGCTCCTATCCTTTGCCCAGCCCTAAATCCAGTGTCTTCTGTGCCCACCCCTCCCCTGGCCTTCCGCAGGCAGTCTAGTTTATAGCACTTGCACTGTGGTTCTGGAGGCCACGTGCTGCCGAGGGTCGGGTTCAGCGCTTCTTGCAGTGTGAGTTCCAGCGTGCCAGGCACTGTGCTAAGTGCCTAACACATTGTTTAGCCCCACGATAGCT
ATGCAAATGCTATCCTAACCCAACTCTGCTCACCTCATAGCCTCTTAGCCCATCAGATGCCAGCCACCCTCCCCATCCCAACTCCATTCACTCTGCAACAATAGCAATGAACATTATGGTGAAGGTAGGGACCACCGTGCTCACCAGGGAGGATGTCAGAGGCAGATGCTCAAGGTGGTGGAGGCAGGGGTGTTGTCTCCATCTTATTCCTGTTCTGTCCATTACATTGCTGCAGTGATCAATATTTGACACTAAGAACCTCATGTCCTATATCCAGGTCCCTGTGCATTTGAGCAAATTGTAGCCCCTCTCTAAGCCTTGGTTTCCTCATGTGTAAAATAAAGGAGTTGTTAAAGGGTCCTTCCAGCTCTGACTGCCTTGAATCCCATGAAATCCAAAATCCTAAAATATCTCCTAAATAATCCTAAAGATTTGAGGCTTCTCTTCCAGGGGATCCTCATGAACTTGTTACTCTGTTATGGATACTTTCCTGCACTTAAGCAAACTATCTCTCTCTAACCCTCTGAACATAACTCAACTTGCCATTATCTTTCCTCCTCACCCACCCACTCAAATTCACACAGACACACACAAATCCCCACCTCACATACACACACATCCCACACACACACATAGACACACACAATCCCCACCCCCCACACACACATCTCACACACACGCACACATACACAAATCCCCACCCCACATACACACACACACACATACCCCACACACACACACACATCCCACACACACACATTCCCTCTCACACACACACACAATCCCCACCCCCTCACACACACACAATCCCCACCCACACACACACACACACATCCTACACACACATACACACACCCCACACACACACACATACACACACACACATACACCCCACCCCAGCCACTCCCCTGCCCACAGACGCACACACACATGCCCTTATTTCGGTTGGGATCTGCCATCCCCAGACATCTCGCTATCTAGCTTTCTCTTACTTTGGGAGAGGAACAGGAGGGGGATAAACCCTTAATACTACTTTCCTGTTGTCTCCTCTCCTTCCCACTAGGTGATCATGGTAACCGGGGATCACCCTATCACAGCCAAGGCCATTGCCAAAGGCGTGGGCATCATATCAGAGGGTAACGAGACTGTGGAGGACATTGCAGCCCGGCTCAACATTCCCATGAGTCAAGTCAACCCCAGGTGAGGCCTCTGCAGGAAGCCCCTGTGCCCTAATCAACACGTCCTCTTGCACAGAAGGCTTGGGTGTCCCCTGGGAGTATTTGGATAGCATTTCTGGGACCTTTATAGGCCTTACCTCTGACACTATTGTGACTGGTTCCTCAGCCCTGAGCTTGTATCCAGGCTGTGCCACTGAATACCCATGTAACCTTGGAGATGTCACATTCCCTTCCTGAGCCTCCATTTTCTCACCACAAAATTAGGATGCCATCTCCACTGCTGTAGGAGTGGGATGTGAGTAAAGAAACTAGCCCAGGGCCTAGCAAACTGCACTTACAACTGCGATGATCCCATGGTGAGGATTTAGACTCACATTCTCAAAGAGAAATGGGGGAAGTGAGTACTGAGGAGAGGAGAACTGAAGCAACAGGGGAAGCAGGCTCAGCAGGGAGCCTGCAGGCTGCGGTGGTGAAGAGAGGCAGGGGGCAGGAGGGGCTGGTACAGGTGCCAGGGGTCAGCTGTCTCTGTCCCCACCCACCCTCCAGAGAAGCCAAGGCATGCGTGGTGCACGGCTCTGACCTGAAGGACATGACATCGGAGCAGCTCGATGAGATCCTCAAGAACCACACAGAGATCGTCTTTGCTCGAACGTCTCCCCAGCAGAAGCTCATCATTGTGGAGGGATGTCAGAGGCAGGTGAGCACAGCCACGGGAGGCAGATGACAGGCAGGGACCGGGGAGGCAGGGACAGGGCCAAGACAAGCATGGAGTGAGAGGCGAGGAGCCAGGCTTGGGAAGGGGTTTCGTCCTCAAGTGTGGCCGTCTTCCCTCCAGGGAGCCATTGTGGCCGTGACGGGTGACGGGGTGAAAGACTCCCCTGCATTGAAGAAGGCTGACATTGGCATTGCCATGGGCATCTCTGGCTCTGACGTCTCTAAGCAGGCAGCCGACATGATCCTGCTGGATGACAACTTTGCCTCCATCGTCACGGGGGTGGAGGAGGGTGAGGAGGCTGCATGGGTTGGGATGGTTTGCAGGATACTGAAGCCGGCACCTCTGTTCCCTGTCCCTTTACCCCAGTTGAAGAATCATTCCACAACTCTAGGCAGCCCAGCCCACTTTAGCTTCCCTTGAACACAAAATCTTCCTCTCTTGGGAAGACAGGCAGCCATGCTTCAGGGGCTGGGGGTGGGGAAGAGTCCCTCTGACCTCCCTGATGCCCTCAGAATCTCCCCACAGGCCGCCTGATCTTTGACAACTTGAAGAAATCCATCGCCTACACCCTGACCAGCAACATCCCCGAGATCACCCCCTTCCTGCTGTTCATCATTGCCAACATCCCCCTACCTCTGGGCACTGTGACCATCCTTTGCATTGACCTGGGCACAGATATGGTGAGCGCAGGAGGTGGAGGAGGGGACAGGCAAGGCAATCGTGATGGCACAGTGGCAGGGAGGAGAGGTGCACTGGGGCAGTGGCCCCAGCTGTGGGGGTTACAGGAGACAGGCACAGGCCTGGAAGACAATGGGGTCTGAATACACGCTTTTTTAACTGTGTCAACGATCGTCACTGTCGAAGATCAATTGCTTCTGTCATCTCCTACGTCCCTTCAAATGCCCTCCCTGCCCCATTTCCTACCCCACACAGGTCCCTGCCATCTCCTTGGCCTATGAGGCAGCTGAGAGTGATATCATGAAGCGGCAGCCACGAAACTCCCAGACGGACAAGCTGGTGAATGAGAGGCTCATCAGCATGGCCTACGGACAGATCGGTGCGCCAAGCCCCGGGCCTCGGGAGGGAACCCCAACAGGGTTCTTTTCCCAGCTTTCAGAGGAATGAGCCCCAAGCAAAATTCCAGGACAGAGGCCAGCTACCCAAGGGTCAGGGACCTCCATCTCTGGCCCTGAGGGGCTGTGCCCCTTCTGCTTCCTGCTCTGACCCTGCCCCTGCCTTTGGCCCTCTACCCACAGGGATGATCCAGGCACTGGGTGGCTTCTTCACCTACTTTGTGATCCTGGCAGAGAACGGTTTCCTGCCATCACGGCTACTGGGAATCCGCCTCGACTGGGATGACCGGACCATGAATGATCTGGAGGACAGCTATGGACAGGAGTGGGTGAGTGGTGCTGTGTAAACACAGCGCACATGTGTGAAGGTACGGGAAGCTGAATGCCTGGCAGGAGTGGCCAGTGGTGGCCAACTGGGACTGGGGCTAGGGGTGGATCAGGAGAAACCATGCTACCTTCTGGTCCTACCCTTTCCTCCGACACTCTCATCTGTCTCTGCCCACCCTCCCTCCAGACCTATGAGCAGCGGAAGGTGGTGGAGTTCACGTGCCACACGGCATTCTTTGCCAGCATCGTGGTGGTGCAGTGGGCTGACCTCATCATCTGCAAGACCCGCCGCAACTCAGTCTTCCAGCAGGGCATGAAGTGAGTGCCCACCCCCATGGCACCTACCCACCCAGGCTCTGGGCACACTCACCAACCCACACAGGCCAAGCTTCCAACTCAGCCCTGGACCAGAGCTGTAAGGAGGGCATCAGATTTTAATCTTCCATCTGTATATCCATAGATAGGTTTCATATAGAAGAGAGAAGCCATGCTTCAGGCTCCTAATTTTGCATTTTGTTATTGTCTCTCTCCACCTTTCTTCTCTCCTTCTCTCCCTCCCTTCTTTCCCCCATCTCCTACTTGAGTGCCACCTGCTCCTATCCTTTGCCCAGCCCTAAATCCAGTGTCTTCTGTGCCCACCCCTCCCCTGGCCTTCCGCAGGCAGTCTAGTTTATAGCACTTGCACTGTGGTTCTGGAGGCCACGTGCTGCCGAGGGTCGGGTTCAGCGCTTCTTGCAGTGTGAGTTCCAGCGTGCCAGGCACTGTGCTAAGTGCCTAACACATTGTTTAGCCCCACGATAGCT
Task1_train_1952
The following genetic variant occurs in ATP1A2 (ATPase Na+/K+ transporting subunit alpha 2) on Chromosome 1. Classify its clinical effect — pathogenic or benign — and list any associated condition.
Pathogenic; Migraine, familial hemiplegic, 2
CCTTGAATCCCATGAAATCCAAAATCCTAAAATATCTCCTAAATAATCCTAAAGATTTGAGGCTTCTCTTCCAGGGGATCCTCATGAACTTGTTACTCTGTTATGGATACTTTCCTGCACTTAAGCAAACTATCTCTCTCTAACCCTCTGAACATAACTCAACTTGCCATTATCTTTCCTCCTCACCCACCCACTCAAATTCACACAGACACACACAAATCCCCACCTCACATACACACACATCCCACACACACACATAGACACACACAATCCCCACCCCCCACACACACATCTCACACACACGCACACATACACAAATCCCCACCCCACATACACACACACACACATACCCCACACACACACACACATCCCACACACACACATTCCCTCTCACACACACACACAATCCCCACCCCCTCACACACACACAATCCCCACCCACACACACACACACACATCCTACACACACATACACACACCCCACACACACACACATACACACACACACATACACCCCACCCCAGCCACTCCCCTGCCCACAGACGCACACACACATGCCCTTATTTCGGTTGGGATCTGCCATCCCCAGACATCTCGCTATCTAGCTTTCTCTTACTTTGGGAGAGGAACAGGAGGGGGATAAACCCTTAATACTACTTTCCTGTTGTCTCCTCTCCTTCCCACTAGGTGATCATGGTAACCGGGGATCACCCTATCACAGCCAAGGCCATTGCCAAAGGCGTGGGCATCATATCAGAGGGTAACGAGACTGTGGAGGACATTGCAGCCCGGCTCAACATTCCCATGAGTCAAGTCAACCCCAGGTGAGGCCTCTGCAGGAAGCCCCTGTGCCCTAATCAACACGTCCTCTTGCACAGAAGGCTTGGGTGTCCCCTGGGAGTATTTGGATAGCATTTCTGGGACCTTTATAGGCCTTACCTCTGACACTATTGTGACTGGTTCCTCAGCCCTGAGCTTGTATCCAGGCTGTGCCACTGAATACCCATGTAACCTTGGAGATGTCACATTCCCTTCCTGAGCCTCCATTTTCTCACCACAAAATTAGGATGCCATCTCCACTGCTGTAGGAGTGGGATGTGAGTAAAGAAACTAGCCCAGGGCCTAGCAAACTGCACTTACAACTGCGATGATCCCATGGTGAGGATTTAGACTCACATTCTCAAAGAGAAATGGGGGAAGTGAGTACTGAGGAGAGGAGAACTGAAGCAACAGGGGAAGCAGGCTCAGCAGGGAGCCTGCAGGCTGCGGTGGTGAAGAGAGGCAGGGGGCAGGAGGGGCTGGTACAGGTGCCAGGGGTCAGCTGTCTCTGTCCCCACCCACCCTCCAGAGAAGCCAAGGCATGCGTGGTGCACGGCTCTGACCTGAAGGACATGACATCGGAGCAGCTCGATGAGATCCTCAAGAACCACACAGAGATCGTCTTTGCTCGAACGTCTCCCCAGCAGAAGCTCATCATTGTGGAGGGATGTCAGAGGCAGGTGAGCACAGCCACGGGAGGCAGATGACAGGCAGGGACCGGGGAGGCAGGGACAGGGCCAAGACAAGCATGGAGTGAGAGGCGAGGAGCCAGGCTTGGGAAGGGGTTTCGTCCTCAAGTGTGGCCGTCTTCCCTCCAGGGAGCCATTGTGGCCGTGACGGGTGACGGGGTGAACGACTCCCCTGCATTGAAGAAGGCTGACATTGGCATTGCCATGGGCATCTCTGGCTCTGACGTCTCTAAGCAGGCAGCCGACATGATCCTGCTGGATGACAACTTTGCCTCCATCGTCACGGGGGTGGAGGAGGGTGAGGAGGCTGCATGGGTTGGGATGGTTTGCAGGATACTGAAGCCGGCACCTCTGTTCCCTGTCCCTTTACCCCAGTTGAAGAATCATTCCACAACTCTAGGCAGCCCAGCCCACTTTAGCTTCCCTTGAACACAAAATCTTCCTCTCTTGGGAAGACAGGCAGCCATGCTTCAGGGGCTGGGGGTGGGGAAGAGTCCCTCTGACCTCCCTGATGCCCTCAGAATCTCCCCACAGGCCGCCTGATCTTTGACAACTTGAAGAAATCCATCGCCTACACCCTGACCAGCAACATCCCCGAGATCACCCCCTTCCTGCTGTTCATCATTGCCAACATCCCCCTACCTCTGGGCACTGTGACCATCCTTTGCATTGACCTGGGCACAGATATGGTGAGCGCAGGAGGTGGAGGAGGGGACAGGCAAGGCAATCGTGATGGCACAGTGGCAGGGAGGAGAGGTGCACTGGGGCAGTGGCCCCAGCTGTGGGGGTTACAGGAGACAGGCACAGGCCTGGAAGACAATGGGGTCTGAATACACGCTTTTTTAACTGTGTCAACGATCGTCACTGTCGAAGATCAATTGCTTCTGTCATCTCCTACGTCCCTTCAAATGCCCTCCCTGCCCCATTTCCTACCCCACACAGGTCCCTGCCATCTCCTTGGCCTATGAGGCAGCTGAGAGTGATATCATGAAGCGGCAGCCACGAAACTCCCAGACGGACAAGCTGGTGAATGAGAGGCTCATCAGCATGGCCTACGGACAGATCGGTGCGCCAAGCCCCGGGCCTCGGGAGGGAACCCCAACAGGGTTCTTTTCCCAGCTTTCAGAGGAATGAGCCCCAAGCAAAATTCCAGGACAGAGGCCAGCTACCCAAGGGTCAGGGACCTCCATCTCTGGCCCTGAGGGGCTGTGCCCCTTCTGCTTCCTGCTCTGACCCTGCCCCTGCCTTTGGCCCTCTACCCACAGGGATGATCCAGGCACTGGGTGGCTTCTTCACCTACTTTGTGATCCTGGCAGAGAACGGTTTCCTGCCATCACGGCTACTGGGAATCCGCCTCGACTGGGATGACCGGACCATGAATGATCTGGAGGACAGCTATGGACAGGAGTGGGTGAGTGGTGCTGTGTAAACACAGCGCACATGTGTGAAGGTACGGGAAGCTGAATGCCTGGCAGGAGTGGCCAGTGGTGGCCAACTGGGACTGGGGCTAGGGGTGGATCAGGAGAAACCATGCTACCTTCTGGTCCTACCCTTTCCTCCGACACTCTCATCTGTCTCTGCCCACCCTCCCTCCAGACCTATGAGCAGCGGAAGGTGGTGGAGTTCACGTGCCACACGGCATTCTTTGCCAGCATCGTGGTGGTGCAGTGGGCTGACCTCATCATCTGCAAGACCCGCCGCAACTCAGTCTTCCAGCAGGGCATGAAGTGAGTGCCCACCCCCATGGCACCTACCCACCCAGGCTCTGGGCACACTCACCAACCCACACAGGCCAAGCTTCCAACTCAGCCCTGGACCAGAGCTGTAAGGAGGGCATCAGATTTTAATCTTCCATCTGTATATCCATAGATAGGTTTCATATAGAAGAGAGAAGCCATGCTTCAGGCTCCTAATTTTGCATTTTGTTATTGTCTCTCTCCACCTTTCTTCTCTCCTTCTCTCCCTCCCTTCTTTCCCCCATCTCCTACTTGAGTGCCACCTGCTCCTATCCTTTGCCCAGCCCTAAATCCAGTGTCTTCTGTGCCCACCCCTCCCCTGGCCTTCCGCAGGCAGTCTAGTTTATAGCACTTGCACTGTGGTTCTGGAGGCCACGTGCTGCCGAGGGTCGGGTTCAGCGCTTCTTGCAGTGTGAGTTCCAGCGTGCCAGGCACTGTGCTAAGTGCCTAACACATTGTTTAGCCCCACGATAGCTCTATGAGGTGGGTATTACTGTTTACATTTCATGGATAAGAGGCCCCAAACAGGTTAAATGATGTGCCCAAGGTCACCAAGATGGTAAGGGTTCACCAGATCTGTCTCTAAAACCCAGCCCTGGCTACTACCCAACATTTCTGTGCTCACACCATCTGGCACTGTTTGGAACTCAGTAATGACTGTGATTCTATTATGGGTGGTGGTTGAGCGCTGAAGGTTTCATGCTGGTTCCTTTTATTTTCTCCTACCATAAACAATGGCCACAATTCCTCACATGAGGTTGTTACAGTTTCTTAGTTTGGGGCTGGGGAGGGTGGGGAGAAGATGCCAAAGTGAAGTTAATAACACTTAAGATCCAAGGGAGAATAAAGTGA
CCTTGAATCCCATGAAATCCAAAATCCTAAAATATCTCCTAAATAATCCTAAAGATTTGAGGCTTCTCTTCCAGGGGATCCTCATGAACTTGTTACTCTGTTATGGATACTTTCCTGCACTTAAGCAAACTATCTCTCTCTAACCCTCTGAACATAACTCAACTTGCCATTATCTTTCCTCCTCACCCACCCACTCAAATTCACACAGACACACACAAATCCCCACCTCACATACACACACATCCCACACACACACATAGACACACACAATCCCCACCCCCCACACACACATCTCACACACACGCACACATACACAAATCCCCACCCCACATACACACACACACACATACCCCACACACACACACACATCCCACACACACACATTCCCTCTCACACACACACACAATCCCCACCCCCTCACACACACACAATCCCCACCCACACACACACACACACATCCTACACACACATACACACACCCCACACACACACACATACACACACACACATACACCCCACCCCAGCCACTCCCCTGCCCACAGACGCACACACACATGCCCTTATTTCGGTTGGGATCTGCCATCCCCAGACATCTCGCTATCTAGCTTTCTCTTACTTTGGGAGAGGAACAGGAGGGGGATAAACCCTTAATACTACTTTCCTGTTGTCTCCTCTCCTTCCCACTAGGTGATCATGGTAACCGGGGATCACCCTATCACAGCCAAGGCCATTGCCAAAGGCGTGGGCATCATATCAGAGGGTAACGAGACTGTGGAGGACATTGCAGCCCGGCTCAACATTCCCATGAGTCAAGTCAACCCCAGGTGAGGCCTCTGCAGGAAGCCCCTGTGCCCTAATCAACACGTCCTCTTGCACAGAAGGCTTGGGTGTCCCCTGGGAGTATTTGGATAGCATTTCTGGGACCTTTATAGGCCTTACCTCTGACACTATTGTGACTGGTTCCTCAGCCCTGAGCTTGTATCCAGGCTGTGCCACTGAATACCCATGTAACCTTGGAGATGTCACATTCCCTTCCTGAGCCTCCATTTTCTCACCACAAAATTAGGATGCCATCTCCACTGCTGTAGGAGTGGGATGTGAGTAAAGAAACTAGCCCAGGGCCTAGCAAACTGCACTTACAACTGCGATGATCCCATGGTGAGGATTTAGACTCACATTCTCAAAGAGAAATGGGGGAAGTGAGTACTGAGGAGAGGAGAACTGAAGCAACAGGGGAAGCAGGCTCAGCAGGGAGCCTGCAGGCTGCGGTGGTGAAGAGAGGCAGGGGGCAGGAGGGGCTGGTACAGGTGCCAGGGGTCAGCTGTCTCTGTCCCCACCCACCCTCCAGAGAAGCCAAGGCATGCGTGGTGCACGGCTCTGACCTGAAGGACATGACATCGGAGCAGCTCGATGAGATCCTCAAGAACCACACAGAGATCGTCTTTGCTCGAACGTCTCCCCAGCAGAAGCTCATCATTGTGGAGGGATGTCAGAGGCAGGTGAGCACAGCCACGGGAGGCAGATGACAGGCAGGGACCGGGGAGGCAGGGACAGGGCCAAGACAAGCATGGAGTGAGAGGCGAGGAGCCAGGCTTGGGAAGGGGTTTCGTCCTCAAGTGTGGCCGTCTTCCCTCCAGGGAGCCATTGTGGCCGTGACGGGTGACGGGGTGAACGACTCCCCTGCATTGAAGAAGGCTGACATTGGCATTGCCATGGGCATCTCTGGCTCTGACGTCTCTAAGCAGGCAGCCGACATGATCCTGCTGGATGACAACTTTGCCTCCATCGTCACGGGGGTGGAGGAGGGTGAGGAGGCTGCATGGGTTGGGATGGTTTGCAGGATACTGAAGCCGGCACCTCTGTTCCCTGTCCCTTTACCCCAGTTGAAGAATCATTCCACAACTCTAGGCAGCCCAGCCCACTTTAGCTTCCCTTGAACACAAAATCTTCCTCTCTTGGGAAGACAGGCAGCCATGCTTCAGGGGCTGGGGGTGGGGAAGAGTCCCTCTGACCTCCCTGATGCCCTCAGAATCTCCCCACAGGCCGCCCGATCTTTGACAACTTGAAGAAATCCATCGCCTACACCCTGACCAGCAACATCCCCGAGATCACCCCCTTCCTGCTGTTCATCATTGCCAACATCCCCCTACCTCTGGGCACTGTGACCATCCTTTGCATTGACCTGGGCACAGATATGGTGAGCGCAGGAGGTGGAGGAGGGGACAGGCAAGGCAATCGTGATGGCACAGTGGCAGGGAGGAGAGGTGCACTGGGGCAGTGGCCCCAGCTGTGGGGGTTACAGGAGACAGGCACAGGCCTGGAAGACAATGGGGTCTGAATACACGCTTTTTTAACTGTGTCAACGATCGTCACTGTCGAAGATCAATTGCTTCTGTCATCTCCTACGTCCCTTCAAATGCCCTCCCTGCCCCATTTCCTACCCCACACAGGTCCCTGCCATCTCCTTGGCCTATGAGGCAGCTGAGAGTGATATCATGAAGCGGCAGCCACGAAACTCCCAGACGGACAAGCTGGTGAATGAGAGGCTCATCAGCATGGCCTACGGACAGATCGGTGCGCCAAGCCCCGGGCCTCGGGAGGGAACCCCAACAGGGTTCTTTTCCCAGCTTTCAGAGGAATGAGCCCCAAGCAAAATTCCAGGACAGAGGCCAGCTACCCAAGGGTCAGGGACCTCCATCTCTGGCCCTGAGGGGCTGTGCCCCTTCTGCTTCCTGCTCTGACCCTGCCCCTGCCTTTGGCCCTCTACCCACAGGGATGATCCAGGCACTGGGTGGCTTCTTCACCTACTTTGTGATCCTGGCAGAGAACGGTTTCCTGCCATCACGGCTACTGGGAATCCGCCTCGACTGGGATGACCGGACCATGAATGATCTGGAGGACAGCTATGGACAGGAGTGGGTGAGTGGTGCTGTGTAAACACAGCGCACATGTGTGAAGGTACGGGAAGCTGAATGCCTGGCAGGAGTGGCCAGTGGTGGCCAACTGGGACTGGGGCTAGGGGTGGATCAGGAGAAACCATGCTACCTTCTGGTCCTACCCTTTCCTCCGACACTCTCATCTGTCTCTGCCCACCCTCCCTCCAGACCTATGAGCAGCGGAAGGTGGTGGAGTTCACGTGCCACACGGCATTCTTTGCCAGCATCGTGGTGGTGCAGTGGGCTGACCTCATCATCTGCAAGACCCGCCGCAACTCAGTCTTCCAGCAGGGCATGAAGTGAGTGCCCACCCCCATGGCACCTACCCACCCAGGCTCTGGGCACACTCACCAACCCACACAGGCCAAGCTTCCAACTCAGCCCTGGACCAGAGCTGTAAGGAGGGCATCAGATTTTAATCTTCCATCTGTATATCCATAGATAGGTTTCATATAGAAGAGAGAAGCCATGCTTCAGGCTCCTAATTTTGCATTTTGTTATTGTCTCTCTCCACCTTTCTTCTCTCCTTCTCTCCCTCCCTTCTTTCCCCCATCTCCTACTTGAGTGCCACCTGCTCCTATCCTTTGCCCAGCCCTAAATCCAGTGTCTTCTGTGCCCACCCCTCCCCTGGCCTTCCGCAGGCAGTCTAGTTTATAGCACTTGCACTGTGGTTCTGGAGGCCACGTGCTGCCGAGGGTCGGGTTCAGCGCTTCTTGCAGTGTGAGTTCCAGCGTGCCAGGCACTGTGCTAAGTGCCTAACACATTGTTTAGCCCCACGATAGCTCTATGAGGTGGGTATTACTGTTTACATTTCATGGATAAGAGGCCCCAAACAGGTTAAATGATGTGCCCAAGGTCACCAAGATGGTAAGGGTTCACCAGATCTGTCTCTAAAACCCAGCCCTGGCTACTACCCAACATTTCTGTGCTCACACCATCTGGCACTGTTTGGAACTCAGTAATGACTGTGATTCTATTATGGGTGGTGGTTGAGCGCTGAAGGTTTCATGCTGGTTCCTTTTATTTTCTCCTACCATAAACAATGGCCACAATTCCTCACATGAGGTTGTTACAGTTTCTTAGTTTGGGGCTGGGGAGGGTGGGGAGAAGATGCCAAAGTGAAGTTAATAACACTTAAGATCCAAGGGAGAATAAAGTGA
Task1_train_1953
A genomic change on Chromosome 1 affects ATP1A2 (ATPase Na+/K+ transporting subunit alpha 2). Classify this variant as benign or pathogenic, and name the disease if relevant.
Pathogenic; Familial hemiplegic migraine
TCTTCCAGGGGATCCTCATGAACTTGTTACTCTGTTATGGATACTTTCCTGCACTTAAGCAAACTATCTCTCTCTAACCCTCTGAACATAACTCAACTTGCCATTATCTTTCCTCCTCACCCACCCACTCAAATTCACACAGACACACACAAATCCCCACCTCACATACACACACATCCCACACACACACATAGACACACACAATCCCCACCCCCCACACACACATCTCACACACACGCACACATACACAAATCCCCACCCCACATACACACACACACACATACCCCACACACACACACACATCCCACACACACACATTCCCTCTCACACACACACACAATCCCCACCCCCTCACACACACACAATCCCCACCCACACACACACACACACATCCTACACACACATACACACACCCCACACACACACACATACACACACACACATACACCCCACCCCAGCCACTCCCCTGCCCACAGACGCACACACACATGCCCTTATTTCGGTTGGGATCTGCCATCCCCAGACATCTCGCTATCTAGCTTTCTCTTACTTTGGGAGAGGAACAGGAGGGGGATAAACCCTTAATACTACTTTCCTGTTGTCTCCTCTCCTTCCCACTAGGTGATCATGGTAACCGGGGATCACCCTATCACAGCCAAGGCCATTGCCAAAGGCGTGGGCATCATATCAGAGGGTAACGAGACTGTGGAGGACATTGCAGCCCGGCTCAACATTCCCATGAGTCAAGTCAACCCCAGGTGAGGCCTCTGCAGGAAGCCCCTGTGCCCTAATCAACACGTCCTCTTGCACAGAAGGCTTGGGTGTCCCCTGGGAGTATTTGGATAGCATTTCTGGGACCTTTATAGGCCTTACCTCTGACACTATTGTGACTGGTTCCTCAGCCCTGAGCTTGTATCCAGGCTGTGCCACTGAATACCCATGTAACCTTGGAGATGTCACATTCCCTTCCTGAGCCTCCATTTTCTCACCACAAAATTAGGATGCCATCTCCACTGCTGTAGGAGTGGGATGTGAGTAAAGAAACTAGCCCAGGGCCTAGCAAACTGCACTTACAACTGCGATGATCCCATGGTGAGGATTTAGACTCACATTCTCAAAGAGAAATGGGGGAAGTGAGTACTGAGGAGAGGAGAACTGAAGCAACAGGGGAAGCAGGCTCAGCAGGGAGCCTGCAGGCTGCGGTGGTGAAGAGAGGCAGGGGGCAGGAGGGGCTGGTACAGGTGCCAGGGGTCAGCTGTCTCTGTCCCCACCCACCCTCCAGAGAAGCCAAGGCATGCGTGGTGCACGGCTCTGACCTGAAGGACATGACATCGGAGCAGCTCGATGAGATCCTCAAGAACCACACAGAGATCGTCTTTGCTCGAACGTCTCCCCAGCAGAAGCTCATCATTGTGGAGGGATGTCAGAGGCAGGTGAGCACAGCCACGGGAGGCAGATGACAGGCAGGGACCGGGGAGGCAGGGACAGGGCCAAGACAAGCATGGAGTGAGAGGCGAGGAGCCAGGCTTGGGAAGGGGTTTCGTCCTCAAGTGTGGCCGTCTTCCCTCCAGGGAGCCATTGTGGCCGTGACGGGTGACGGGGTGAACGACTCCCCTGCATTGAAGAAGGCTGACATTGGCATTGCCATGGGCATCTCTGGCTCTGACGTCTCTAAGCAGGCAGCCGACATGATCCTGCTGGATGACAACTTTGCCTCCATCGTCACGGGGGTGGAGGAGGGTGAGGAGGCTGCATGGGTTGGGATGGTTTGCAGGATACTGAAGCCGGCACCTCTGTTCCCTGTCCCTTTACCCCAGTTGAAGAATCATTCCACAACTCTAGGCAGCCCAGCCCACTTTAGCTTCCCTTGAACACAAAATCTTCCTCTCTTGGGAAGACAGGCAGCCATGCTTCAGGGGCTGGGGGTGGGGAAGAGTCCCTCTGACCTCCCTGATGCCCTCAGAATCTCCCCACAGGCCGCCTGATCTTTGACAACTTGAAGAAATCCATCGCCTACACCCTGACCAGCAACATCCCCGAGATCACCCCCTTCCTGCTGTTCATCATTGCCAACATCCCCCTACCTCTGGGCACTGTGACCATCCTTTGCATTGACCTGGGCACAGATATGGTGAGCGCAGGAGGTGGAGGAGGGGACAGGCAAGGCAATCGTGATGGCACAGTGGCAGGGAGGAGAGGTGCACTGGGGCAGTGGCCCCAGCTGTGGGGGTTACAGGAGACAGGCACAGGCCTGGAAGACAATGGGGTCTGAATACACGCTTTTTTAACTGTGTCAACGATCGTCACTGTCGAAGATCAATTGCTTCTGTCATCTCCTACGTCCCTTCAAATGCCCTCCCTGCCCCATTTCCTACCCCACACAGGTCCCTGCCATCTCCTTGGCCTATGAGGCAGCTGAGAGTGATATCATGAAGCGGCAGCCACGAAACTCCCAGACGGACAAGCTGGTGAATGAGAGGCTCATCAGCATGGCCTACGGACAGATCGGTGCGCCAAGCCCCGGGCCTCGGGAGGGAACCCCAACAGGGTTCTTTTCCCAGCTTTCAGAGGAATGAGCCCCAAGCAAAATTCCAGGACAGAGGCCAGCTACCCAAGGGTCAGGGACCTCCATCTCTGGCCCTGAGGGGCTGTGCCCCTTCTGCTTCCTGCTCTGACCCTGCCCCTGCCTTTGGCCCTCTACCCACAGGGATGATCCAGGCACTGGGTGGCTTCTTCACCTACTTTGTGATCCTGGCAGAGAACGGTTTCCTGCCATCACGGCTACTGGGAATCCGCCTCGACTGGGATGACCGGACCATGAATGATCTGGAGGACAGCTATGGACAGGAGTGGGTGAGTGGTGCTGTGTAAACACAGCGCACATGTGTGAAGGTACGGGAAGCTGAATGCCTGGCAGGAGTGGCCAGTGGTGGCCAACTGGGACTGGGGCTAGGGGTGGATCAGGAGAAACCATGCTACCTTCTGGTCCTACCCTTTCCTCCGACACTCTCATCTGTCTCTGCCCACCCTCCCTCCAGACCTATGAGCAGCGGAAGGTGGTGGAGTTCACGTGCCACACGGCATTCTTTGCCAGCATCGTGGTGGTGCAGTGGGCTGACCTCATCATCTGCAAGACCCGCCGCAACTCAGTCTTCCAGCAGGGCATGAAGTGAGTGCCCACCCCCATGGCACCTACCCACCCAGGCTCTGGGCACACTCACCAACCCACACAGGCCAAGCTTCCAACTCAGCCCTGGACCAGAGCTGTAAGGAGGGCATCAGATTTTAATCTTCCATCTGTATATCCATAGATAGGTTTCATATAGAAGAGAGAAGCCATGCTTCAGGCTCCTAATTTTGCATTTTGTTATTGTCTCTCTCCACCTTTCTTCTCTCCTTCTCTCCCTCCCTTCTTTCCCCCATCTCCTACTTGAGTGCCACCTGCTCCTATCCTTTGCCCAGCCCTAAATCCAGTGTCTTCTGTGCCCACCCCTCCCCTGGCCTTCCGCAGGCAGTCTAGTTTATAGCACTTGCACTGTGGTTCTGGAGGCCACGTGCTGCCGAGGGTCGGGTTCAGCGCTTCTTGCAGTGTGAGTTCCAGCGTGCCAGGCACTGTGCTAAGTGCCTAACACATTGTTTAGCCCCACGATAGCTCTATGAGGTGGGTATTACTGTTTACATTTCATGGATAAGAGGCCCCAAACAGGTTAAATGATGTGCCCAAGGTCACCAAGATGGTAAGGGTTCACCAGATCTGTCTCTAAAACCCAGCCCTGGCTACTACCCAACATTTCTGTGCTCACACCATCTGGCACTGTTTGGAACTCAGTAATGACTGTGATTCTATTATGGGTGGTGGTTGAGCGCTGAAGGTTTCATGCTGGTTCCTTTTATTTTCTCCTACCATAAACAATGGCCACAATTCCTCACATGAGGTTGTTACAGTTTCTTAGTTTGGGGCTGGGGAGGGTGGGGAGAAGATGCCAAAGTGAAGTTAATAACACTTAAGATCCAAGGGAGAATAAAGTGAAAAGCCTGTTAGATAAATAAAGGTAACATGAAGGAAGGAGATTCCAGTAAGCTAAAAATACTAATG
TCTTCCAGGGGATCCTCATGAACTTGTTACTCTGTTATGGATACTTTCCTGCACTTAAGCAAACTATCTCTCTCTAACCCTCTGAACATAACTCAACTTGCCATTATCTTTCCTCCTCACCCACCCACTCAAATTCACACAGACACACACAAATCCCCACCTCACATACACACACATCCCACACACACACATAGACACACACAATCCCCACCCCCCACACACACATCTCACACACACGCACACATACACAAATCCCCACCCCACATACACACACACACACATACCCCACACACACACACACATCCCACACACACACATTCCCTCTCACACACACACACAATCCCCACCCCCTCACACACACACAATCCCCACCCACACACACACACACACATCCTACACACACATACACACACCCCACACACACACACATACACACACACACATACACCCCACCCCAGCCACTCCCCTGCCCACAGACGCACACACACATGCCCTTATTTCGGTTGGGATCTGCCATCCCCAGACATCTCGCTATCTAGCTTTCTCTTACTTTGGGAGAGGAACAGGAGGGGGATAAACCCTTAATACTACTTTCCTGTTGTCTCCTCTCCTTCCCACTAGGTGATCATGGTAACCGGGGATCACCCTATCACAGCCAAGGCCATTGCCAAAGGCGTGGGCATCATATCAGAGGGTAACGAGACTGTGGAGGACATTGCAGCCCGGCTCAACATTCCCATGAGTCAAGTCAACCCCAGGTGAGGCCTCTGCAGGAAGCCCCTGTGCCCTAATCAACACGTCCTCTTGCACAGAAGGCTTGGGTGTCCCCTGGGAGTATTTGGATAGCATTTCTGGGACCTTTATAGGCCTTACCTCTGACACTATTGTGACTGGTTCCTCAGCCCTGAGCTTGTATCCAGGCTGTGCCACTGAATACCCATGTAACCTTGGAGATGTCACATTCCCTTCCTGAGCCTCCATTTTCTCACCACAAAATTAGGATGCCATCTCCACTGCTGTAGGAGTGGGATGTGAGTAAAGAAACTAGCCCAGGGCCTAGCAAACTGCACTTACAACTGCGATGATCCCATGGTGAGGATTTAGACTCACATTCTCAAAGAGAAATGGGGGAAGTGAGTACTGAGGAGAGGAGAACTGAAGCAACAGGGGAAGCAGGCTCAGCAGGGAGCCTGCAGGCTGCGGTGGTGAAGAGAGGCAGGGGGCAGGAGGGGCTGGTACAGGTGCCAGGGGTCAGCTGTCTCTGTCCCCACCCACCCTCCAGAGAAGCCAAGGCATGCGTGGTGCACGGCTCTGACCTGAAGGACATGACATCGGAGCAGCTCGATGAGATCCTCAAGAACCACACAGAGATCGTCTTTGCTCGAACGTCTCCCCAGCAGAAGCTCATCATTGTGGAGGGATGTCAGAGGCAGGTGAGCACAGCCACGGGAGGCAGATGACAGGCAGGGACCGGGGAGGCAGGGACAGGGCCAAGACAAGCATGGAGTGAGAGGCGAGGAGCCAGGCTTGGGAAGGGGTTTCGTCCTCAAGTGTGGCCGTCTTCCCTCCAGGGAGCCATTGTGGCCGTGACGGGTGACGGGGTGAACGACTCCCCTGCATTGAAGAAGGCTGACATTGGCATTGCCATGGGCATCTCTGGCTCTGACGTCTCTAAGCAGGCAGCCGACATGATCCTGCTGGATGACAACTTTGCCTCCATCGTCACGGGGGTGGAGGAGGGTGAGGAGGCTGCATGGGTTGGGATGGTTTGCAGGATACTGAAGCCGGCACCTCTGTTCCCTGTCCCTTTACCCCAGTTGAAGAATCATTCCACAACTCTAGGCAGCCCAGCCCACTTTAGCTTCCCTTGAACACAAAATCTTCCTCTCTTGGGAAGACAGGCAGCCATGCTTCAGGGGCTGGGGGTGGGGAAGAGTCCCTCTGACCTCCCTGATGCCCTCAGAATCTCCCCACAGGCCGCCTGATCTTTGACAACTTGAAGAAATCCATCGCCTACACCCTGACCAGCAACATCCCCGAGATCACCCTCTTCCTGCTGTTCATCATTGCCAACATCCCCCTACCTCTGGGCACTGTGACCATCCTTTGCATTGACCTGGGCACAGATATGGTGAGCGCAGGAGGTGGAGGAGGGGACAGGCAAGGCAATCGTGATGGCACAGTGGCAGGGAGGAGAGGTGCACTGGGGCAGTGGCCCCAGCTGTGGGGGTTACAGGAGACAGGCACAGGCCTGGAAGACAATGGGGTCTGAATACACGCTTTTTTAACTGTGTCAACGATCGTCACTGTCGAAGATCAATTGCTTCTGTCATCTCCTACGTCCCTTCAAATGCCCTCCCTGCCCCATTTCCTACCCCACACAGGTCCCTGCCATCTCCTTGGCCTATGAGGCAGCTGAGAGTGATATCATGAAGCGGCAGCCACGAAACTCCCAGACGGACAAGCTGGTGAATGAGAGGCTCATCAGCATGGCCTACGGACAGATCGGTGCGCCAAGCCCCGGGCCTCGGGAGGGAACCCCAACAGGGTTCTTTTCCCAGCTTTCAGAGGAATGAGCCCCAAGCAAAATTCCAGGACAGAGGCCAGCTACCCAAGGGTCAGGGACCTCCATCTCTGGCCCTGAGGGGCTGTGCCCCTTCTGCTTCCTGCTCTGACCCTGCCCCTGCCTTTGGCCCTCTACCCACAGGGATGATCCAGGCACTGGGTGGCTTCTTCACCTACTTTGTGATCCTGGCAGAGAACGGTTTCCTGCCATCACGGCTACTGGGAATCCGCCTCGACTGGGATGACCGGACCATGAATGATCTGGAGGACAGCTATGGACAGGAGTGGGTGAGTGGTGCTGTGTAAACACAGCGCACATGTGTGAAGGTACGGGAAGCTGAATGCCTGGCAGGAGTGGCCAGTGGTGGCCAACTGGGACTGGGGCTAGGGGTGGATCAGGAGAAACCATGCTACCTTCTGGTCCTACCCTTTCCTCCGACACTCTCATCTGTCTCTGCCCACCCTCCCTCCAGACCTATGAGCAGCGGAAGGTGGTGGAGTTCACGTGCCACACGGCATTCTTTGCCAGCATCGTGGTGGTGCAGTGGGCTGACCTCATCATCTGCAAGACCCGCCGCAACTCAGTCTTCCAGCAGGGCATGAAGTGAGTGCCCACCCCCATGGCACCTACCCACCCAGGCTCTGGGCACACTCACCAACCCACACAGGCCAAGCTTCCAACTCAGCCCTGGACCAGAGCTGTAAGGAGGGCATCAGATTTTAATCTTCCATCTGTATATCCATAGATAGGTTTCATATAGAAGAGAGAAGCCATGCTTCAGGCTCCTAATTTTGCATTTTGTTATTGTCTCTCTCCACCTTTCTTCTCTCCTTCTCTCCCTCCCTTCTTTCCCCCATCTCCTACTTGAGTGCCACCTGCTCCTATCCTTTGCCCAGCCCTAAATCCAGTGTCTTCTGTGCCCACCCCTCCCCTGGCCTTCCGCAGGCAGTCTAGTTTATAGCACTTGCACTGTGGTTCTGGAGGCCACGTGCTGCCGAGGGTCGGGTTCAGCGCTTCTTGCAGTGTGAGTTCCAGCGTGCCAGGCACTGTGCTAAGTGCCTAACACATTGTTTAGCCCCACGATAGCTCTATGAGGTGGGTATTACTGTTTACATTTCATGGATAAGAGGCCCCAAACAGGTTAAATGATGTGCCCAAGGTCACCAAGATGGTAAGGGTTCACCAGATCTGTCTCTAAAACCCAGCCCTGGCTACTACCCAACATTTCTGTGCTCACACCATCTGGCACTGTTTGGAACTCAGTAATGACTGTGATTCTATTATGGGTGGTGGTTGAGCGCTGAAGGTTTCATGCTGGTTCCTTTTATTTTCTCCTACCATAAACAATGGCCACAATTCCTCACATGAGGTTGTTACAGTTTCTTAGTTTGGGGCTGGGGAGGGTGGGGAGAAGATGCCAAAGTGAAGTTAATAACACTTAAGATCCAAGGGAGAATAAAGTGAAAAGCCTGTTAGATAAATAAAGGTAACATGAAGGAAGGAGATTCCAGTAAGCTAAAAATACTAATG
Task1_train_1954
Given a variant located on Chromosome 1 and affecting ATP1A2 (ATPase Na+/K+ transporting subunit alpha 2), assess whether it is benign or pathogenic. Indicate the associated disease if pathogenic.
Pathogenic; Familial hemiplegic migraine
ACACACATACACACACCCCACACACACACACATACACACACACACATACACCCCACCCCAGCCACTCCCCTGCCCACAGACGCACACACACATGCCCTTATTTCGGTTGGGATCTGCCATCCCCAGACATCTCGCTATCTAGCTTTCTCTTACTTTGGGAGAGGAACAGGAGGGGGATAAACCCTTAATACTACTTTCCTGTTGTCTCCTCTCCTTCCCACTAGGTGATCATGGTAACCGGGGATCACCCTATCACAGCCAAGGCCATTGCCAAAGGCGTGGGCATCATATCAGAGGGTAACGAGACTGTGGAGGACATTGCAGCCCGGCTCAACATTCCCATGAGTCAAGTCAACCCCAGGTGAGGCCTCTGCAGGAAGCCCCTGTGCCCTAATCAACACGTCCTCTTGCACAGAAGGCTTGGGTGTCCCCTGGGAGTATTTGGATAGCATTTCTGGGACCTTTATAGGCCTTACCTCTGACACTATTGTGACTGGTTCCTCAGCCCTGAGCTTGTATCCAGGCTGTGCCACTGAATACCCATGTAACCTTGGAGATGTCACATTCCCTTCCTGAGCCTCCATTTTCTCACCACAAAATTAGGATGCCATCTCCACTGCTGTAGGAGTGGGATGTGAGTAAAGAAACTAGCCCAGGGCCTAGCAAACTGCACTTACAACTGCGATGATCCCATGGTGAGGATTTAGACTCACATTCTCAAAGAGAAATGGGGGAAGTGAGTACTGAGGAGAGGAGAACTGAAGCAACAGGGGAAGCAGGCTCAGCAGGGAGCCTGCAGGCTGCGGTGGTGAAGAGAGGCAGGGGGCAGGAGGGGCTGGTACAGGTGCCAGGGGTCAGCTGTCTCTGTCCCCACCCACCCTCCAGAGAAGCCAAGGCATGCGTGGTGCACGGCTCTGACCTGAAGGACATGACATCGGAGCAGCTCGATGAGATCCTCAAGAACCACACAGAGATCGTCTTTGCTCGAACGTCTCCCCAGCAGAAGCTCATCATTGTGGAGGGATGTCAGAGGCAGGTGAGCACAGCCACGGGAGGCAGATGACAGGCAGGGACCGGGGAGGCAGGGACAGGGCCAAGACAAGCATGGAGTGAGAGGCGAGGAGCCAGGCTTGGGAAGGGGTTTCGTCCTCAAGTGTGGCCGTCTTCCCTCCAGGGAGCCATTGTGGCCGTGACGGGTGACGGGGTGAACGACTCCCCTGCATTGAAGAAGGCTGACATTGGCATTGCCATGGGCATCTCTGGCTCTGACGTCTCTAAGCAGGCAGCCGACATGATCCTGCTGGATGACAACTTTGCCTCCATCGTCACGGGGGTGGAGGAGGGTGAGGAGGCTGCATGGGTTGGGATGGTTTGCAGGATACTGAAGCCGGCACCTCTGTTCCCTGTCCCTTTACCCCAGTTGAAGAATCATTCCACAACTCTAGGCAGCCCAGCCCACTTTAGCTTCCCTTGAACACAAAATCTTCCTCTCTTGGGAAGACAGGCAGCCATGCTTCAGGGGCTGGGGGTGGGGAAGAGTCCCTCTGACCTCCCTGATGCCCTCAGAATCTCCCCACAGGCCGCCTGATCTTTGACAACTTGAAGAAATCCATCGCCTACACCCTGACCAGCAACATCCCCGAGATCACCCCCTTCCTGCTGTTCATCATTGCCAACATCCCCCTACCTCTGGGCACTGTGACCATCCTTTGCATTGACCTGGGCACAGATATGGTGAGCGCAGGAGGTGGAGGAGGGGACAGGCAAGGCAATCGTGATGGCACAGTGGCAGGGAGGAGAGGTGCACTGGGGCAGTGGCCCCAGCTGTGGGGGTTACAGGAGACAGGCACAGGCCTGGAAGACAATGGGGTCTGAATACACGCTTTTTTAACTGTGTCAACGATCGTCACTGTCGAAGATCAATTGCTTCTGTCATCTCCTACGTCCCTTCAAATGCCCTCCCTGCCCCATTTCCTACCCCACACAGGTCCCTGCCATCTCCTTGGCCTATGAGGCAGCTGAGAGTGATATCATGAAGCGGCAGCCACGAAACTCCCAGACGGACAAGCTGGTGAATGAGAGGCTCATCAGCATGGCCTACGGACAGATCGGTGCGCCAAGCCCCGGGCCTCGGGAGGGAACCCCAACAGGGTTCTTTTCCCAGCTTTCAGAGGAATGAGCCCCAAGCAAAATTCCAGGACAGAGGCCAGCTACCCAAGGGTCAGGGACCTCCATCTCTGGCCCTGAGGGGCTGTGCCCCTTCTGCTTCCTGCTCTGACCCTGCCCCTGCCTTTGGCCCTCTACCCACAGGGATGATCCAGGCACTGGGTGGCTTCTTCACCTACTTTGTGATCCTGGCAGAGAACGGTTTCCTGCCATCACGGCTACTGGGAATCCGCCTCGACTGGGATGACCGGACCATGAATGATCTGGAGGACAGCTATGGACAGGAGTGGGTGAGTGGTGCTGTGTAAACACAGCGCACATGTGTGAAGGTACGGGAAGCTGAATGCCTGGCAGGAGTGGCCAGTGGTGGCCAACTGGGACTGGGGCTAGGGGTGGATCAGGAGAAACCATGCTACCTTCTGGTCCTACCCTTTCCTCCGACACTCTCATCTGTCTCTGCCCACCCTCCCTCCAGACCTATGAGCAGCGGAAGGTGGTGGAGTTCACGTGCCACACGGCATTCTTTGCCAGCATCGTGGTGGTGCAGTGGGCTGACCTCATCATCTGCAAGACCCGCCGCAACTCAGTCTTCCAGCAGGGCATGAAGTGAGTGCCCACCCCCATGGCACCTACCCACCCAGGCTCTGGGCACACTCACCAACCCACACAGGCCAAGCTTCCAACTCAGCCCTGGACCAGAGCTGTAAGGAGGGCATCAGATTTTAATCTTCCATCTGTATATCCATAGATAGGTTTCATATAGAAGAGAGAAGCCATGCTTCAGGCTCCTAATTTTGCATTTTGTTATTGTCTCTCTCCACCTTTCTTCTCTCCTTCTCTCCCTCCCTTCTTTCCCCCATCTCCTACTTGAGTGCCACCTGCTCCTATCCTTTGCCCAGCCCTAAATCCAGTGTCTTCTGTGCCCACCCCTCCCCTGGCCTTCCGCAGGCAGTCTAGTTTATAGCACTTGCACTGTGGTTCTGGAGGCCACGTGCTGCCGAGGGTCGGGTTCAGCGCTTCTTGCAGTGTGAGTTCCAGCGTGCCAGGCACTGTGCTAAGTGCCTAACACATTGTTTAGCCCCACGATAGCTCTATGAGGTGGGTATTACTGTTTACATTTCATGGATAAGAGGCCCCAAACAGGTTAAATGATGTGCCCAAGGTCACCAAGATGGTAAGGGTTCACCAGATCTGTCTCTAAAACCCAGCCCTGGCTACTACCCAACATTTCTGTGCTCACACCATCTGGCACTGTTTGGAACTCAGTAATGACTGTGATTCTATTATGGGTGGTGGTTGAGCGCTGAAGGTTTCATGCTGGTTCCTTTTATTTTCTCCTACCATAAACAATGGCCACAATTCCTCACATGAGGTTGTTACAGTTTCTTAGTTTGGGGCTGGGGAGGGTGGGGAGAAGATGCCAAAGTGAAGTTAATAACACTTAAGATCCAAGGGAGAATAAAGTGAAAAGCCTGTTAGATAAATAAAGGTAACATGAAGGAAGGAGATTCCAGTAAGCTAAAAATACTAATGGAAAAAAAATGCAATTTGAAGAGAACAAGGAGCAGAGAGTCTAAGAAATTGGGTATAATTCTGGGGCCTGGGACTTGCTATGCACTGCAGGGATGACACACGAAGGTGGGAACATGGCCATAGTGGCTGCATCCAGCCCATCTTAGAGGCAAATGGGAAAAATGGCAAATGAAAATCAGGCTGGGTACAGAGGAAGAGTACTAATACCACCACAGGCCTCACCTTAGGTCCCTGGGCCACTGGGGATCCTCAGAGATGCTATTTGCCTTATTTTGAAAAGCTTTATGAAAATAAAGCACTCACCTATGCGAAGGCAACCAGGCTTACTAATGTGTCATTCTTAGGCAAAAGCCAAGAGCGCATATCATGACGTGGTGATCGGATGCTGATTCACAGT
ACACACATACACACACCCCACACACACACACATACACACACACACATACACCCCACCCCAGCCACTCCCCTGCCCACAGACGCACACACACATGCCCTTATTTCGGTTGGGATCTGCCATCCCCAGACATCTCGCTATCTAGCTTTCTCTTACTTTGGGAGAGGAACAGGAGGGGGATAAACCCTTAATACTACTTTCCTGTTGTCTCCTCTCCTTCCCACTAGGTGATCATGGTAACCGGGGATCACCCTATCACAGCCAAGGCCATTGCCAAAGGCGTGGGCATCATATCAGAGGGTAACGAGACTGTGGAGGACATTGCAGCCCGGCTCAACATTCCCATGAGTCAAGTCAACCCCAGGTGAGGCCTCTGCAGGAAGCCCCTGTGCCCTAATCAACACGTCCTCTTGCACAGAAGGCTTGGGTGTCCCCTGGGAGTATTTGGATAGCATTTCTGGGACCTTTATAGGCCTTACCTCTGACACTATTGTGACTGGTTCCTCAGCCCTGAGCTTGTATCCAGGCTGTGCCACTGAATACCCATGTAACCTTGGAGATGTCACATTCCCTTCCTGAGCCTCCATTTTCTCACCACAAAATTAGGATGCCATCTCCACTGCTGTAGGAGTGGGATGTGAGTAAAGAAACTAGCCCAGGGCCTAGCAAACTGCACTTACAACTGCGATGATCCCATGGTGAGGATTTAGACTCACATTCTCAAAGAGAAATGGGGGAAGTGAGTACTGAGGAGAGGAGAACTGAAGCAACAGGGGAAGCAGGCTCAGCAGGGAGCCTGCAGGCTGCGGTGGTGAAGAGAGGCAGGGGGCAGGAGGGGCTGGTACAGGTGCCAGGGGTCAGCTGTCTCTGTCCCCACCCACCCTCCAGAGAAGCCAAGGCATGCGTGGTGCACGGCTCTGACCTGAAGGACATGACATCGGAGCAGCTCGATGAGATCCTCAAGAACCACACAGAGATCGTCTTTGCTCGAACGTCTCCCCAGCAGAAGCTCATCATTGTGGAGGGATGTCAGAGGCAGGTGAGCACAGCCACGGGAGGCAGATGACAGGCAGGGACCGGGGAGGCAGGGACAGGGCCAAGACAAGCATGGAGTGAGAGGCGAGGAGCCAGGCTTGGGAAGGGGTTTCGTCCTCAAGTGTGGCCGTCTTCCCTCCAGGGAGCCATTGTGGCCGTGACGGGTGACGGGGTGAACGACTCCCCTGCATTGAAGAAGGCTGACATTGGCATTGCCATGGGCATCTCTGGCTCTGACGTCTCTAAGCAGGCAGCCGACATGATCCTGCTGGATGACAACTTTGCCTCCATCGTCACGGGGGTGGAGGAGGGTGAGGAGGCTGCATGGGTTGGGATGGTTTGCAGGATACTGAAGCCGGCACCTCTGTTCCCTGTCCCTTTACCCCAGTTGAAGAATCATTCCACAACTCTAGGCAGCCCAGCCCACTTTAGCTTCCCTTGAACACAAAATCTTCCTCTCTTGGGAAGACAGGCAGCCATGCTTCAGGGGCTGGGGGTGGGGAAGAGTCCCTCTGACCTCCCTGATGCCCTCAGAATCTCCCCACAGGCCGCCTGATCTTTGACAACTTGAAGAAATCCATCGCCTACACCCTGACCAGCAACATCCCCGAGATCACCCCCTTCCTGCTGTTCATCATTGCCAACATCCCCCTACCTCTGGGCACTGTGACCATCCTTTGCATTGACCTGGGCACAGATATGGTGAGCGCAGGAGGTGGAGGAGGGGACAGGCAAGGCAATCGTGATGGCACAGTGGCAGGGAGGAGAGGTGCACTGGGGCAGTGGCCCCAGCTGTGGGGGTTACAGGAGACAGGCACAGGCCTGGAAGACAATGGGGTCTGAATACACGCTTTTTTAACTGTGTCAACGATCGTCACTGTCGAAGATCAATTGCTTCTGTCATCTCCTACGTCCCTTCAAATGCCCTCCCTGCCCCATTTCCTACCCCACACAGGTCCCTGCCATCTCCTTGGCCTATGAGGCAGCTGAGAGTGATATCATGAAGCGGCAGCCACAAAACTCCCAGACGGACAAGCTGGTGAATGAGAGGCTCATCAGCATGGCCTACGGACAGATCGGTGCGCCAAGCCCCGGGCCTCGGGAGGGAACCCCAACAGGGTTCTTTTCCCAGCTTTCAGAGGAATGAGCCCCAAGCAAAATTCCAGGACAGAGGCCAGCTACCCAAGGGTCAGGGACCTCCATCTCTGGCCCTGAGGGGCTGTGCCCCTTCTGCTTCCTGCTCTGACCCTGCCCCTGCCTTTGGCCCTCTACCCACAGGGATGATCCAGGCACTGGGTGGCTTCTTCACCTACTTTGTGATCCTGGCAGAGAACGGTTTCCTGCCATCACGGCTACTGGGAATCCGCCTCGACTGGGATGACCGGACCATGAATGATCTGGAGGACAGCTATGGACAGGAGTGGGTGAGTGGTGCTGTGTAAACACAGCGCACATGTGTGAAGGTACGGGAAGCTGAATGCCTGGCAGGAGTGGCCAGTGGTGGCCAACTGGGACTGGGGCTAGGGGTGGATCAGGAGAAACCATGCTACCTTCTGGTCCTACCCTTTCCTCCGACACTCTCATCTGTCTCTGCCCACCCTCCCTCCAGACCTATGAGCAGCGGAAGGTGGTGGAGTTCACGTGCCACACGGCATTCTTTGCCAGCATCGTGGTGGTGCAGTGGGCTGACCTCATCATCTGCAAGACCCGCCGCAACTCAGTCTTCCAGCAGGGCATGAAGTGAGTGCCCACCCCCATGGCACCTACCCACCCAGGCTCTGGGCACACTCACCAACCCACACAGGCCAAGCTTCCAACTCAGCCCTGGACCAGAGCTGTAAGGAGGGCATCAGATTTTAATCTTCCATCTGTATATCCATAGATAGGTTTCATATAGAAGAGAGAAGCCATGCTTCAGGCTCCTAATTTTGCATTTTGTTATTGTCTCTCTCCACCTTTCTTCTCTCCTTCTCTCCCTCCCTTCTTTCCCCCATCTCCTACTTGAGTGCCACCTGCTCCTATCCTTTGCCCAGCCCTAAATCCAGTGTCTTCTGTGCCCACCCCTCCCCTGGCCTTCCGCAGGCAGTCTAGTTTATAGCACTTGCACTGTGGTTCTGGAGGCCACGTGCTGCCGAGGGTCGGGTTCAGCGCTTCTTGCAGTGTGAGTTCCAGCGTGCCAGGCACTGTGCTAAGTGCCTAACACATTGTTTAGCCCCACGATAGCTCTATGAGGTGGGTATTACTGTTTACATTTCATGGATAAGAGGCCCCAAACAGGTTAAATGATGTGCCCAAGGTCACCAAGATGGTAAGGGTTCACCAGATCTGTCTCTAAAACCCAGCCCTGGCTACTACCCAACATTTCTGTGCTCACACCATCTGGCACTGTTTGGAACTCAGTAATGACTGTGATTCTATTATGGGTGGTGGTTGAGCGCTGAAGGTTTCATGCTGGTTCCTTTTATTTTCTCCTACCATAAACAATGGCCACAATTCCTCACATGAGGTTGTTACAGTTTCTTAGTTTGGGGCTGGGGAGGGTGGGGAGAAGATGCCAAAGTGAAGTTAATAACACTTAAGATCCAAGGGAGAATAAAGTGAAAAGCCTGTTAGATAAATAAAGGTAACATGAAGGAAGGAGATTCCAGTAAGCTAAAAATACTAATGGAAAAAAAATGCAATTTGAAGAGAACAAGGAGCAGAGAGTCTAAGAAATTGGGTATAATTCTGGGGCCTGGGACTTGCTATGCACTGCAGGGATGACACACGAAGGTGGGAACATGGCCATAGTGGCTGCATCCAGCCCATCTTAGAGGCAAATGGGAAAAATGGCAAATGAAAATCAGGCTGGGTACAGAGGAAGAGTACTAATACCACCACAGGCCTCACCTTAGGTCCCTGGGCCACTGGGGATCCTCAGAGATGCTATTTGCCTTATTTTGAAAAGCTTTATGAAAATAAAGCACTCACCTATGCGAAGGCAACCAGGCTTACTAATGTGTCATTCTTAGGCAAAAGCCAAGAGCGCATATCATGACGTGGTGATCGGATGCTGATTCACAGT
Task1_train_1955
This alteration in ATP1A2 (ATPase Na+/K+ transporting subunit alpha 2) on Chromosome 1 may affect gene function. Does it lead to a disease or is it benign?
Pathogenic; Migraine, familial hemiplegic, 2
ACACACATACACACACCCCACACACACACACATACACACACACACATACACCCCACCCCAGCCACTCCCCTGCCCACAGACGCACACACACATGCCCTTATTTCGGTTGGGATCTGCCATCCCCAGACATCTCGCTATCTAGCTTTCTCTTACTTTGGGAGAGGAACAGGAGGGGGATAAACCCTTAATACTACTTTCCTGTTGTCTCCTCTCCTTCCCACTAGGTGATCATGGTAACCGGGGATCACCCTATCACAGCCAAGGCCATTGCCAAAGGCGTGGGCATCATATCAGAGGGTAACGAGACTGTGGAGGACATTGCAGCCCGGCTCAACATTCCCATGAGTCAAGTCAACCCCAGGTGAGGCCTCTGCAGGAAGCCCCTGTGCCCTAATCAACACGTCCTCTTGCACAGAAGGCTTGGGTGTCCCCTGGGAGTATTTGGATAGCATTTCTGGGACCTTTATAGGCCTTACCTCTGACACTATTGTGACTGGTTCCTCAGCCCTGAGCTTGTATCCAGGCTGTGCCACTGAATACCCATGTAACCTTGGAGATGTCACATTCCCTTCCTGAGCCTCCATTTTCTCACCACAAAATTAGGATGCCATCTCCACTGCTGTAGGAGTGGGATGTGAGTAAAGAAACTAGCCCAGGGCCTAGCAAACTGCACTTACAACTGCGATGATCCCATGGTGAGGATTTAGACTCACATTCTCAAAGAGAAATGGGGGAAGTGAGTACTGAGGAGAGGAGAACTGAAGCAACAGGGGAAGCAGGCTCAGCAGGGAGCCTGCAGGCTGCGGTGGTGAAGAGAGGCAGGGGGCAGGAGGGGCTGGTACAGGTGCCAGGGGTCAGCTGTCTCTGTCCCCACCCACCCTCCAGAGAAGCCAAGGCATGCGTGGTGCACGGCTCTGACCTGAAGGACATGACATCGGAGCAGCTCGATGAGATCCTCAAGAACCACACAGAGATCGTCTTTGCTCGAACGTCTCCCCAGCAGAAGCTCATCATTGTGGAGGGATGTCAGAGGCAGGTGAGCACAGCCACGGGAGGCAGATGACAGGCAGGGACCGGGGAGGCAGGGACAGGGCCAAGACAAGCATGGAGTGAGAGGCGAGGAGCCAGGCTTGGGAAGGGGTTTCGTCCTCAAGTGTGGCCGTCTTCCCTCCAGGGAGCCATTGTGGCCGTGACGGGTGACGGGGTGAACGACTCCCCTGCATTGAAGAAGGCTGACATTGGCATTGCCATGGGCATCTCTGGCTCTGACGTCTCTAAGCAGGCAGCCGACATGATCCTGCTGGATGACAACTTTGCCTCCATCGTCACGGGGGTGGAGGAGGGTGAGGAGGCTGCATGGGTTGGGATGGTTTGCAGGATACTGAAGCCGGCACCTCTGTTCCCTGTCCCTTTACCCCAGTTGAAGAATCATTCCACAACTCTAGGCAGCCCAGCCCACTTTAGCTTCCCTTGAACACAAAATCTTCCTCTCTTGGGAAGACAGGCAGCCATGCTTCAGGGGCTGGGGGTGGGGAAGAGTCCCTCTGACCTCCCTGATGCCCTCAGAATCTCCCCACAGGCCGCCTGATCTTTGACAACTTGAAGAAATCCATCGCCTACACCCTGACCAGCAACATCCCCGAGATCACCCCCTTCCTGCTGTTCATCATTGCCAACATCCCCCTACCTCTGGGCACTGTGACCATCCTTTGCATTGACCTGGGCACAGATATGGTGAGCGCAGGAGGTGGAGGAGGGGACAGGCAAGGCAATCGTGATGGCACAGTGGCAGGGAGGAGAGGTGCACTGGGGCAGTGGCCCCAGCTGTGGGGGTTACAGGAGACAGGCACAGGCCTGGAAGACAATGGGGTCTGAATACACGCTTTTTTAACTGTGTCAACGATCGTCACTGTCGAAGATCAATTGCTTCTGTCATCTCCTACGTCCCTTCAAATGCCCTCCCTGCCCCATTTCCTACCCCACACAGGTCCCTGCCATCTCCTTGGCCTATGAGGCAGCTGAGAGTGATATCATGAAGCGGCAGCCACGAAACTCCCAGACGGACAAGCTGGTGAATGAGAGGCTCATCAGCATGGCCTACGGACAGATCGGTGCGCCAAGCCCCGGGCCTCGGGAGGGAACCCCAACAGGGTTCTTTTCCCAGCTTTCAGAGGAATGAGCCCCAAGCAAAATTCCAGGACAGAGGCCAGCTACCCAAGGGTCAGGGACCTCCATCTCTGGCCCTGAGGGGCTGTGCCCCTTCTGCTTCCTGCTCTGACCCTGCCCCTGCCTTTGGCCCTCTACCCACAGGGATGATCCAGGCACTGGGTGGCTTCTTCACCTACTTTGTGATCCTGGCAGAGAACGGTTTCCTGCCATCACGGCTACTGGGAATCCGCCTCGACTGGGATGACCGGACCATGAATGATCTGGAGGACAGCTATGGACAGGAGTGGGTGAGTGGTGCTGTGTAAACACAGCGCACATGTGTGAAGGTACGGGAAGCTGAATGCCTGGCAGGAGTGGCCAGTGGTGGCCAACTGGGACTGGGGCTAGGGGTGGATCAGGAGAAACCATGCTACCTTCTGGTCCTACCCTTTCCTCCGACACTCTCATCTGTCTCTGCCCACCCTCCCTCCAGACCTATGAGCAGCGGAAGGTGGTGGAGTTCACGTGCCACACGGCATTCTTTGCCAGCATCGTGGTGGTGCAGTGGGCTGACCTCATCATCTGCAAGACCCGCCGCAACTCAGTCTTCCAGCAGGGCATGAAGTGAGTGCCCACCCCCATGGCACCTACCCACCCAGGCTCTGGGCACACTCACCAACCCACACAGGCCAAGCTTCCAACTCAGCCCTGGACCAGAGCTGTAAGGAGGGCATCAGATTTTAATCTTCCATCTGTATATCCATAGATAGGTTTCATATAGAAGAGAGAAGCCATGCTTCAGGCTCCTAATTTTGCATTTTGTTATTGTCTCTCTCCACCTTTCTTCTCTCCTTCTCTCCCTCCCTTCTTTCCCCCATCTCCTACTTGAGTGCCACCTGCTCCTATCCTTTGCCCAGCCCTAAATCCAGTGTCTTCTGTGCCCACCCCTCCCCTGGCCTTCCGCAGGCAGTCTAGTTTATAGCACTTGCACTGTGGTTCTGGAGGCCACGTGCTGCCGAGGGTCGGGTTCAGCGCTTCTTGCAGTGTGAGTTCCAGCGTGCCAGGCACTGTGCTAAGTGCCTAACACATTGTTTAGCCCCACGATAGCTCTATGAGGTGGGTATTACTGTTTACATTTCATGGATAAGAGGCCCCAAACAGGTTAAATGATGTGCCCAAGGTCACCAAGATGGTAAGGGTTCACCAGATCTGTCTCTAAAACCCAGCCCTGGCTACTACCCAACATTTCTGTGCTCACACCATCTGGCACTGTTTGGAACTCAGTAATGACTGTGATTCTATTATGGGTGGTGGTTGAGCGCTGAAGGTTTCATGCTGGTTCCTTTTATTTTCTCCTACCATAAACAATGGCCACAATTCCTCACATGAGGTTGTTACAGTTTCTTAGTTTGGGGCTGGGGAGGGTGGGGAGAAGATGCCAAAGTGAAGTTAATAACACTTAAGATCCAAGGGAGAATAAAGTGAAAAGCCTGTTAGATAAATAAAGGTAACATGAAGGAAGGAGATTCCAGTAAGCTAAAAATACTAATGGAAAAAAAATGCAATTTGAAGAGAACAAGGAGCAGAGAGTCTAAGAAATTGGGTATAATTCTGGGGCCTGGGACTTGCTATGCACTGCAGGGATGACACACGAAGGTGGGAACATGGCCATAGTGGCTGCATCCAGCCCATCTTAGAGGCAAATGGGAAAAATGGCAAATGAAAATCAGGCTGGGTACAGAGGAAGAGTACTAATACCACCACAGGCCTCACCTTAGGTCCCTGGGCCACTGGGGATCCTCAGAGATGCTATTTGCCTTATTTTGAAAAGCTTTATGAAAATAAAGCACTCACCTATGCGAAGGCAACCAGGCTTACTAATGTGTCATTCTTAGGCAAAAGCCAAGAGCGCATATCATGACGTGGTGATCGGATGCTGATTCACAGT
ACACACATACACACACCCCACACACACACACATACACACACACACATACACCCCACCCCAGCCACTCCCCTGCCCACAGACGCACACACACATGCCCTTATTTCGGTTGGGATCTGCCATCCCCAGACATCTCGCTATCTAGCTTTCTCTTACTTTGGGAGAGGAACAGGAGGGGGATAAACCCTTAATACTACTTTCCTGTTGTCTCCTCTCCTTCCCACTAGGTGATCATGGTAACCGGGGATCACCCTATCACAGCCAAGGCCATTGCCAAAGGCGTGGGCATCATATCAGAGGGTAACGAGACTGTGGAGGACATTGCAGCCCGGCTCAACATTCCCATGAGTCAAGTCAACCCCAGGTGAGGCCTCTGCAGGAAGCCCCTGTGCCCTAATCAACACGTCCTCTTGCACAGAAGGCTTGGGTGTCCCCTGGGAGTATTTGGATAGCATTTCTGGGACCTTTATAGGCCTTACCTCTGACACTATTGTGACTGGTTCCTCAGCCCTGAGCTTGTATCCAGGCTGTGCCACTGAATACCCATGTAACCTTGGAGATGTCACATTCCCTTCCTGAGCCTCCATTTTCTCACCACAAAATTAGGATGCCATCTCCACTGCTGTAGGAGTGGGATGTGAGTAAAGAAACTAGCCCAGGGCCTAGCAAACTGCACTTACAACTGCGATGATCCCATGGTGAGGATTTAGACTCACATTCTCAAAGAGAAATGGGGGAAGTGAGTACTGAGGAGAGGAGAACTGAAGCAACAGGGGAAGCAGGCTCAGCAGGGAGCCTGCAGGCTGCGGTGGTGAAGAGAGGCAGGGGGCAGGAGGGGCTGGTACAGGTGCCAGGGGTCAGCTGTCTCTGTCCCCACCCACCCTCCAGAGAAGCCAAGGCATGCGTGGTGCACGGCTCTGACCTGAAGGACATGACATCGGAGCAGCTCGATGAGATCCTCAAGAACCACACAGAGATCGTCTTTGCTCGAACGTCTCCCCAGCAGAAGCTCATCATTGTGGAGGGATGTCAGAGGCAGGTGAGCACAGCCACGGGAGGCAGATGACAGGCAGGGACCGGGGAGGCAGGGACAGGGCCAAGACAAGCATGGAGTGAGAGGCGAGGAGCCAGGCTTGGGAAGGGGTTTCGTCCTCAAGTGTGGCCGTCTTCCCTCCAGGGAGCCATTGTGGCCGTGACGGGTGACGGGGTGAACGACTCCCCTGCATTGAAGAAGGCTGACATTGGCATTGCCATGGGCATCTCTGGCTCTGACGTCTCTAAGCAGGCAGCCGACATGATCCTGCTGGATGACAACTTTGCCTCCATCGTCACGGGGGTGGAGGAGGGTGAGGAGGCTGCATGGGTTGGGATGGTTTGCAGGATACTGAAGCCGGCACCTCTGTTCCCTGTCCCTTTACCCCAGTTGAAGAATCATTCCACAACTCTAGGCAGCCCAGCCCACTTTAGCTTCCCTTGAACACAAAATCTTCCTCTCTTGGGAAGACAGGCAGCCATGCTTCAGGGGCTGGGGGTGGGGAAGAGTCCCTCTGACCTCCCTGATGCCCTCAGAATCTCCCCACAGGCCGCCTGATCTTTGACAACTTGAAGAAATCCATCGCCTACACCCTGACCAGCAACATCCCCGAGATCACCCCCTTCCTGCTGTTCATCATTGCCAACATCCCCCTACCTCTGGGCACTGTGACCATCCTTTGCATTGACCTGGGCACAGATATGGTGAGCGCAGGAGGTGGAGGAGGGGACAGGCAAGGCAATCGTGATGGCACAGTGGCAGGGAGGAGAGGTGCACTGGGGCAGTGGCCCCAGCTGTGGGGGTTACAGGAGACAGGCACAGGCCTGGAAGACAATGGGGTCTGAATACACGCTTTTTTAACTGTGTCAACGATCGTCACTGTCGAAGATCAATTGCTTCTGTCATCTCCTACGTCCCTTCAAATGCCCTCCCTGCCCCATTTCCTACCCCACACAGGTCCCTGCCATCTCCTTGGCCTATGAGGCAGCTGAGAGTGATATCATGAAGCGGCAGCCACAAAACTCCCAGACGGACAAGCTGGTGAATGAGAGGCTCATCAGCATGGCCTACGGACAGATCGGTGCGCCAAGCCCCGGGCCTCGGGAGGGAACCCCAACAGGGTTCTTTTCCCAGCTTTCAGAGGAATGAGCCCCAAGCAAAATTCCAGGACAGAGGCCAGCTACCCAAGGGTCAGGGACCTCCATCTCTGGCCCTGAGGGGCTGTGCCCCTTCTGCTTCCTGCTCTGACCCTGCCCCTGCCTTTGGCCCTCTACCCACAGGGATGATCCAGGCACTGGGTGGCTTCTTCACCTACTTTGTGATCCTGGCAGAGAACGGTTTCCTGCCATCACGGCTACTGGGAATCCGCCTCGACTGGGATGACCGGACCATGAATGATCTGGAGGACAGCTATGGACAGGAGTGGGTGAGTGGTGCTGTGTAAACACAGCGCACATGTGTGAAGGTACGGGAAGCTGAATGCCTGGCAGGAGTGGCCAGTGGTGGCCAACTGGGACTGGGGCTAGGGGTGGATCAGGAGAAACCATGCTACCTTCTGGTCCTACCCTTTCCTCCGACACTCTCATCTGTCTCTGCCCACCCTCCCTCCAGACCTATGAGCAGCGGAAGGTGGTGGAGTTCACGTGCCACACGGCATTCTTTGCCAGCATCGTGGTGGTGCAGTGGGCTGACCTCATCATCTGCAAGACCCGCCGCAACTCAGTCTTCCAGCAGGGCATGAAGTGAGTGCCCACCCCCATGGCACCTACCCACCCAGGCTCTGGGCACACTCACCAACCCACACAGGCCAAGCTTCCAACTCAGCCCTGGACCAGAGCTGTAAGGAGGGCATCAGATTTTAATCTTCCATCTGTATATCCATAGATAGGTTTCATATAGAAGAGAGAAGCCATGCTTCAGGCTCCTAATTTTGCATTTTGTTATTGTCTCTCTCCACCTTTCTTCTCTCCTTCTCTCCCTCCCTTCTTTCCCCCATCTCCTACTTGAGTGCCACCTGCTCCTATCCTTTGCCCAGCCCTAAATCCAGTGTCTTCTGTGCCCACCCCTCCCCTGGCCTTCCGCAGGCAGTCTAGTTTATAGCACTTGCACTGTGGTTCTGGAGGCCACGTGCTGCCGAGGGTCGGGTTCAGCGCTTCTTGCAGTGTGAGTTCCAGCGTGCCAGGCACTGTGCTAAGTGCCTAACACATTGTTTAGCCCCACGATAGCTCTATGAGGTGGGTATTACTGTTTACATTTCATGGATAAGAGGCCCCAAACAGGTTAAATGATGTGCCCAAGGTCACCAAGATGGTAAGGGTTCACCAGATCTGTCTCTAAAACCCAGCCCTGGCTACTACCCAACATTTCTGTGCTCACACCATCTGGCACTGTTTGGAACTCAGTAATGACTGTGATTCTATTATGGGTGGTGGTTGAGCGCTGAAGGTTTCATGCTGGTTCCTTTTATTTTCTCCTACCATAAACAATGGCCACAATTCCTCACATGAGGTTGTTACAGTTTCTTAGTTTGGGGCTGGGGAGGGTGGGGAGAAGATGCCAAAGTGAAGTTAATAACACTTAAGATCCAAGGGAGAATAAAGTGAAAAGCCTGTTAGATAAATAAAGGTAACATGAAGGAAGGAGATTCCAGTAAGCTAAAAATACTAATGGAAAAAAAATGCAATTTGAAGAGAACAAGGAGCAGAGAGTCTAAGAAATTGGGTATAATTCTGGGGCCTGGGACTTGCTATGCACTGCAGGGATGACACACGAAGGTGGGAACATGGCCATAGTGGCTGCATCCAGCCCATCTTAGAGGCAAATGGGAAAAATGGCAAATGAAAATCAGGCTGGGTACAGAGGAAGAGTACTAATACCACCACAGGCCTCACCTTAGGTCCCTGGGCCACTGGGGATCCTCAGAGATGCTATTTGCCTTATTTTGAAAAGCTTTATGAAAATAAAGCACTCACCTATGCGAAGGCAACCAGGCTTACTAATGTGTCATTCTTAGGCAAAAGCCAAGAGCGCATATCATGACGTGGTGATCGGATGCTGATTCACAGT
Task1_train_1956
This variant affects the gene ATP1A2 (ATPase Na+/K+ transporting subunit alpha 2) found on Chromosome 1. What is the clinical effect of this variant — benign or pathogenic? State the disease if applicable.
Pathogenic; Migraine, familial hemiplegic, 2
CACTCCCCTGCCCACAGACGCACACACACATGCCCTTATTTCGGTTGGGATCTGCCATCCCCAGACATCTCGCTATCTAGCTTTCTCTTACTTTGGGAGAGGAACAGGAGGGGGATAAACCCTTAATACTACTTTCCTGTTGTCTCCTCTCCTTCCCACTAGGTGATCATGGTAACCGGGGATCACCCTATCACAGCCAAGGCCATTGCCAAAGGCGTGGGCATCATATCAGAGGGTAACGAGACTGTGGAGGACATTGCAGCCCGGCTCAACATTCCCATGAGTCAAGTCAACCCCAGGTGAGGCCTCTGCAGGAAGCCCCTGTGCCCTAATCAACACGTCCTCTTGCACAGAAGGCTTGGGTGTCCCCTGGGAGTATTTGGATAGCATTTCTGGGACCTTTATAGGCCTTACCTCTGACACTATTGTGACTGGTTCCTCAGCCCTGAGCTTGTATCCAGGCTGTGCCACTGAATACCCATGTAACCTTGGAGATGTCACATTCCCTTCCTGAGCCTCCATTTTCTCACCACAAAATTAGGATGCCATCTCCACTGCTGTAGGAGTGGGATGTGAGTAAAGAAACTAGCCCAGGGCCTAGCAAACTGCACTTACAACTGCGATGATCCCATGGTGAGGATTTAGACTCACATTCTCAAAGAGAAATGGGGGAAGTGAGTACTGAGGAGAGGAGAACTGAAGCAACAGGGGAAGCAGGCTCAGCAGGGAGCCTGCAGGCTGCGGTGGTGAAGAGAGGCAGGGGGCAGGAGGGGCTGGTACAGGTGCCAGGGGTCAGCTGTCTCTGTCCCCACCCACCCTCCAGAGAAGCCAAGGCATGCGTGGTGCACGGCTCTGACCTGAAGGACATGACATCGGAGCAGCTCGATGAGATCCTCAAGAACCACACAGAGATCGTCTTTGCTCGAACGTCTCCCCAGCAGAAGCTCATCATTGTGGAGGGATGTCAGAGGCAGGTGAGCACAGCCACGGGAGGCAGATGACAGGCAGGGACCGGGGAGGCAGGGACAGGGCCAAGACAAGCATGGAGTGAGAGGCGAGGAGCCAGGCTTGGGAAGGGGTTTCGTCCTCAAGTGTGGCCGTCTTCCCTCCAGGGAGCCATTGTGGCCGTGACGGGTGACGGGGTGAACGACTCCCCTGCATTGAAGAAGGCTGACATTGGCATTGCCATGGGCATCTCTGGCTCTGACGTCTCTAAGCAGGCAGCCGACATGATCCTGCTGGATGACAACTTTGCCTCCATCGTCACGGGGGTGGAGGAGGGTGAGGAGGCTGCATGGGTTGGGATGGTTTGCAGGATACTGAAGCCGGCACCTCTGTTCCCTGTCCCTTTACCCCAGTTGAAGAATCATTCCACAACTCTAGGCAGCCCAGCCCACTTTAGCTTCCCTTGAACACAAAATCTTCCTCTCTTGGGAAGACAGGCAGCCATGCTTCAGGGGCTGGGGGTGGGGAAGAGTCCCTCTGACCTCCCTGATGCCCTCAGAATCTCCCCACAGGCCGCCTGATCTTTGACAACTTGAAGAAATCCATCGCCTACACCCTGACCAGCAACATCCCCGAGATCACCCCCTTCCTGCTGTTCATCATTGCCAACATCCCCCTACCTCTGGGCACTGTGACCATCCTTTGCATTGACCTGGGCACAGATATGGTGAGCGCAGGAGGTGGAGGAGGGGACAGGCAAGGCAATCGTGATGGCACAGTGGCAGGGAGGAGAGGTGCACTGGGGCAGTGGCCCCAGCTGTGGGGGTTACAGGAGACAGGCACAGGCCTGGAAGACAATGGGGTCTGAATACACGCTTTTTTAACTGTGTCAACGATCGTCACTGTCGAAGATCAATTGCTTCTGTCATCTCCTACGTCCCTTCAAATGCCCTCCCTGCCCCATTTCCTACCCCACACAGGTCCCTGCCATCTCCTTGGCCTATGAGGCAGCTGAGAGTGATATCATGAAGCGGCAGCCACGAAACTCCCAGACGGACAAGCTGGTGAATGAGAGGCTCATCAGCATGGCCTACGGACAGATCGGTGCGCCAAGCCCCGGGCCTCGGGAGGGAACCCCAACAGGGTTCTTTTCCCAGCTTTCAGAGGAATGAGCCCCAAGCAAAATTCCAGGACAGAGGCCAGCTACCCAAGGGTCAGGGACCTCCATCTCTGGCCCTGAGGGGCTGTGCCCCTTCTGCTTCCTGCTCTGACCCTGCCCCTGCCTTTGGCCCTCTACCCACAGGGATGATCCAGGCACTGGGTGGCTTCTTCACCTACTTTGTGATCCTGGCAGAGAACGGTTTCCTGCCATCACGGCTACTGGGAATCCGCCTCGACTGGGATGACCGGACCATGAATGATCTGGAGGACAGCTATGGACAGGAGTGGGTGAGTGGTGCTGTGTAAACACAGCGCACATGTGTGAAGGTACGGGAAGCTGAATGCCTGGCAGGAGTGGCCAGTGGTGGCCAACTGGGACTGGGGCTAGGGGTGGATCAGGAGAAACCATGCTACCTTCTGGTCCTACCCTTTCCTCCGACACTCTCATCTGTCTCTGCCCACCCTCCCTCCAGACCTATGAGCAGCGGAAGGTGGTGGAGTTCACGTGCCACACGGCATTCTTTGCCAGCATCGTGGTGGTGCAGTGGGCTGACCTCATCATCTGCAAGACCCGCCGCAACTCAGTCTTCCAGCAGGGCATGAAGTGAGTGCCCACCCCCATGGCACCTACCCACCCAGGCTCTGGGCACACTCACCAACCCACACAGGCCAAGCTTCCAACTCAGCCCTGGACCAGAGCTGTAAGGAGGGCATCAGATTTTAATCTTCCATCTGTATATCCATAGATAGGTTTCATATAGAAGAGAGAAGCCATGCTTCAGGCTCCTAATTTTGCATTTTGTTATTGTCTCTCTCCACCTTTCTTCTCTCCTTCTCTCCCTCCCTTCTTTCCCCCATCTCCTACTTGAGTGCCACCTGCTCCTATCCTTTGCCCAGCCCTAAATCCAGTGTCTTCTGTGCCCACCCCTCCCCTGGCCTTCCGCAGGCAGTCTAGTTTATAGCACTTGCACTGTGGTTCTGGAGGCCACGTGCTGCCGAGGGTCGGGTTCAGCGCTTCTTGCAGTGTGAGTTCCAGCGTGCCAGGCACTGTGCTAAGTGCCTAACACATTGTTTAGCCCCACGATAGCTCTATGAGGTGGGTATTACTGTTTACATTTCATGGATAAGAGGCCCCAAACAGGTTAAATGATGTGCCCAAGGTCACCAAGATGGTAAGGGTTCACCAGATCTGTCTCTAAAACCCAGCCCTGGCTACTACCCAACATTTCTGTGCTCACACCATCTGGCACTGTTTGGAACTCAGTAATGACTGTGATTCTATTATGGGTGGTGGTTGAGCGCTGAAGGTTTCATGCTGGTTCCTTTTATTTTCTCCTACCATAAACAATGGCCACAATTCCTCACATGAGGTTGTTACAGTTTCTTAGTTTGGGGCTGGGGAGGGTGGGGAGAAGATGCCAAAGTGAAGTTAATAACACTTAAGATCCAAGGGAGAATAAAGTGAAAAGCCTGTTAGATAAATAAAGGTAACATGAAGGAAGGAGATTCCAGTAAGCTAAAAATACTAATGGAAAAAAAATGCAATTTGAAGAGAACAAGGAGCAGAGAGTCTAAGAAATTGGGTATAATTCTGGGGCCTGGGACTTGCTATGCACTGCAGGGATGACACACGAAGGTGGGAACATGGCCATAGTGGCTGCATCCAGCCCATCTTAGAGGCAAATGGGAAAAATGGCAAATGAAAATCAGGCTGGGTACAGAGGAAGAGTACTAATACCACCACAGGCCTCACCTTAGGTCCCTGGGCCACTGGGGATCCTCAGAGATGCTATTTGCCTTATTTTGAAAAGCTTTATGAAAATAAAGCACTCACCTATGCGAAGGCAACCAGGCTTACTAATGTGTCATTCTTAGGCAAAAGCCAAGAGCGCATATCATGACGTGGTGATCGGATGCTGATTCACAGTTCTGTCTGGAAGCCATGGATAGTTCTAATTAATTTTAAATGGGGAAATGTATTCAATACTTA
CACTCCCCTGCCCACAGACGCACACACACATGCCCTTATTTCGGTTGGGATCTGCCATCCCCAGACATCTCGCTATCTAGCTTTCTCTTACTTTGGGAGAGGAACAGGAGGGGGATAAACCCTTAATACTACTTTCCTGTTGTCTCCTCTCCTTCCCACTAGGTGATCATGGTAACCGGGGATCACCCTATCACAGCCAAGGCCATTGCCAAAGGCGTGGGCATCATATCAGAGGGTAACGAGACTGTGGAGGACATTGCAGCCCGGCTCAACATTCCCATGAGTCAAGTCAACCCCAGGTGAGGCCTCTGCAGGAAGCCCCTGTGCCCTAATCAACACGTCCTCTTGCACAGAAGGCTTGGGTGTCCCCTGGGAGTATTTGGATAGCATTTCTGGGACCTTTATAGGCCTTACCTCTGACACTATTGTGACTGGTTCCTCAGCCCTGAGCTTGTATCCAGGCTGTGCCACTGAATACCCATGTAACCTTGGAGATGTCACATTCCCTTCCTGAGCCTCCATTTTCTCACCACAAAATTAGGATGCCATCTCCACTGCTGTAGGAGTGGGATGTGAGTAAAGAAACTAGCCCAGGGCCTAGCAAACTGCACTTACAACTGCGATGATCCCATGGTGAGGATTTAGACTCACATTCTCAAAGAGAAATGGGGGAAGTGAGTACTGAGGAGAGGAGAACTGAAGCAACAGGGGAAGCAGGCTCAGCAGGGAGCCTGCAGGCTGCGGTGGTGAAGAGAGGCAGGGGGCAGGAGGGGCTGGTACAGGTGCCAGGGGTCAGCTGTCTCTGTCCCCACCCACCCTCCAGAGAAGCCAAGGCATGCGTGGTGCACGGCTCTGACCTGAAGGACATGACATCGGAGCAGCTCGATGAGATCCTCAAGAACCACACAGAGATCGTCTTTGCTCGAACGTCTCCCCAGCAGAAGCTCATCATTGTGGAGGGATGTCAGAGGCAGGTGAGCACAGCCACGGGAGGCAGATGACAGGCAGGGACCGGGGAGGCAGGGACAGGGCCAAGACAAGCATGGAGTGAGAGGCGAGGAGCCAGGCTTGGGAAGGGGTTTCGTCCTCAAGTGTGGCCGTCTTCCCTCCAGGGAGCCATTGTGGCCGTGACGGGTGACGGGGTGAACGACTCCCCTGCATTGAAGAAGGCTGACATTGGCATTGCCATGGGCATCTCTGGCTCTGACGTCTCTAAGCAGGCAGCCGACATGATCCTGCTGGATGACAACTTTGCCTCCATCGTCACGGGGGTGGAGGAGGGTGAGGAGGCTGCATGGGTTGGGATGGTTTGCAGGATACTGAAGCCGGCACCTCTGTTCCCTGTCCCTTTACCCCAGTTGAAGAATCATTCCACAACTCTAGGCAGCCCAGCCCACTTTAGCTTCCCTTGAACACAAAATCTTCCTCTCTTGGGAAGACAGGCAGCCATGCTTCAGGGGCTGGGGGTGGGGAAGAGTCCCTCTGACCTCCCTGATGCCCTCAGAATCTCCCCACAGGCCGCCTGATCTTTGACAACTTGAAGAAATCCATCGCCTACACCCTGACCAGCAACATCCCCGAGATCACCCCCTTCCTGCTGTTCATCATTGCCAACATCCCCCTACCTCTGGGCACTGTGACCATCCTTTGCATTGACCTGGGCACAGATATGGTGAGCGCAGGAGGTGGAGGAGGGGACAGGCAAGGCAATCGTGATGGCACAGTGGCAGGGAGGAGAGGTGCACTGGGGCAGTGGCCCCAGCTGTGGGGGTTACAGGAGACAGGCACAGGCCTGGAAGACAATGGGGTCTGAATACACGCTTTTTTAACTGTGTCAACGATCGTCACTGTCGAAGATCAATTGCTTCTGTCATCTCCTACGTCCCTTCAAATGCCCTCCCTGCCCCATTTCCTACCCCACACAGGTCCCTGCCATCTCCTTGGCCTATGAGGCAGCTGAGAGTGATATCATGAAGCGGCAGCCACGAAACTCCCAGACGGACAAGCTGGTGAATGAGAGGCTCATCAGCATGGCCTACGGACAGATCAGTGCGCCAAGCCCCGGGCCTCGGGAGGGAACCCCAACAGGGTTCTTTTCCCAGCTTTCAGAGGAATGAGCCCCAAGCAAAATTCCAGGACAGAGGCCAGCTACCCAAGGGTCAGGGACCTCCATCTCTGGCCCTGAGGGGCTGTGCCCCTTCTGCTTCCTGCTCTGACCCTGCCCCTGCCTTTGGCCCTCTACCCACAGGGATGATCCAGGCACTGGGTGGCTTCTTCACCTACTTTGTGATCCTGGCAGAGAACGGTTTCCTGCCATCACGGCTACTGGGAATCCGCCTCGACTGGGATGACCGGACCATGAATGATCTGGAGGACAGCTATGGACAGGAGTGGGTGAGTGGTGCTGTGTAAACACAGCGCACATGTGTGAAGGTACGGGAAGCTGAATGCCTGGCAGGAGTGGCCAGTGGTGGCCAACTGGGACTGGGGCTAGGGGTGGATCAGGAGAAACCATGCTACCTTCTGGTCCTACCCTTTCCTCCGACACTCTCATCTGTCTCTGCCCACCCTCCCTCCAGACCTATGAGCAGCGGAAGGTGGTGGAGTTCACGTGCCACACGGCATTCTTTGCCAGCATCGTGGTGGTGCAGTGGGCTGACCTCATCATCTGCAAGACCCGCCGCAACTCAGTCTTCCAGCAGGGCATGAAGTGAGTGCCCACCCCCATGGCACCTACCCACCCAGGCTCTGGGCACACTCACCAACCCACACAGGCCAAGCTTCCAACTCAGCCCTGGACCAGAGCTGTAAGGAGGGCATCAGATTTTAATCTTCCATCTGTATATCCATAGATAGGTTTCATATAGAAGAGAGAAGCCATGCTTCAGGCTCCTAATTTTGCATTTTGTTATTGTCTCTCTCCACCTTTCTTCTCTCCTTCTCTCCCTCCCTTCTTTCCCCCATCTCCTACTTGAGTGCCACCTGCTCCTATCCTTTGCCCAGCCCTAAATCCAGTGTCTTCTGTGCCCACCCCTCCCCTGGCCTTCCGCAGGCAGTCTAGTTTATAGCACTTGCACTGTGGTTCTGGAGGCCACGTGCTGCCGAGGGTCGGGTTCAGCGCTTCTTGCAGTGTGAGTTCCAGCGTGCCAGGCACTGTGCTAAGTGCCTAACACATTGTTTAGCCCCACGATAGCTCTATGAGGTGGGTATTACTGTTTACATTTCATGGATAAGAGGCCCCAAACAGGTTAAATGATGTGCCCAAGGTCACCAAGATGGTAAGGGTTCACCAGATCTGTCTCTAAAACCCAGCCCTGGCTACTACCCAACATTTCTGTGCTCACACCATCTGGCACTGTTTGGAACTCAGTAATGACTGTGATTCTATTATGGGTGGTGGTTGAGCGCTGAAGGTTTCATGCTGGTTCCTTTTATTTTCTCCTACCATAAACAATGGCCACAATTCCTCACATGAGGTTGTTACAGTTTCTTAGTTTGGGGCTGGGGAGGGTGGGGAGAAGATGCCAAAGTGAAGTTAATAACACTTAAGATCCAAGGGAGAATAAAGTGAAAAGCCTGTTAGATAAATAAAGGTAACATGAAGGAAGGAGATTCCAGTAAGCTAAAAATACTAATGGAAAAAAAATGCAATTTGAAGAGAACAAGGAGCAGAGAGTCTAAGAAATTGGGTATAATTCTGGGGCCTGGGACTTGCTATGCACTGCAGGGATGACACACGAAGGTGGGAACATGGCCATAGTGGCTGCATCCAGCCCATCTTAGAGGCAAATGGGAAAAATGGCAAATGAAAATCAGGCTGGGTACAGAGGAAGAGTACTAATACCACCACAGGCCTCACCTTAGGTCCCTGGGCCACTGGGGATCCTCAGAGATGCTATTTGCCTTATTTTGAAAAGCTTTATGAAAATAAAGCACTCACCTATGCGAAGGCAACCAGGCTTACTAATGTGTCATTCTTAGGCAAAAGCCAAGAGCGCATATCATGACGTGGTGATCGGATGCTGATTCACAGTTCTGTCTGGAAGCCATGGATAGTTCTAATTAATTTTAAATGGGGAAATGTATTCAATACTTA
Task1_train_1957
The gene ATP1A2 (ATPase Na+/K+ transporting subunit alpha 2), on Chromosome 1, contains a mutation. Does this mutation cause a disorder, or is it a benign change?
Pathogenic; Alternating hemiplegia of childhood 1
CACTCCCCTGCCCACAGACGCACACACACATGCCCTTATTTCGGTTGGGATCTGCCATCCCCAGACATCTCGCTATCTAGCTTTCTCTTACTTTGGGAGAGGAACAGGAGGGGGATAAACCCTTAATACTACTTTCCTGTTGTCTCCTCTCCTTCCCACTAGGTGATCATGGTAACCGGGGATCACCCTATCACAGCCAAGGCCATTGCCAAAGGCGTGGGCATCATATCAGAGGGTAACGAGACTGTGGAGGACATTGCAGCCCGGCTCAACATTCCCATGAGTCAAGTCAACCCCAGGTGAGGCCTCTGCAGGAAGCCCCTGTGCCCTAATCAACACGTCCTCTTGCACAGAAGGCTTGGGTGTCCCCTGGGAGTATTTGGATAGCATTTCTGGGACCTTTATAGGCCTTACCTCTGACACTATTGTGACTGGTTCCTCAGCCCTGAGCTTGTATCCAGGCTGTGCCACTGAATACCCATGTAACCTTGGAGATGTCACATTCCCTTCCTGAGCCTCCATTTTCTCACCACAAAATTAGGATGCCATCTCCACTGCTGTAGGAGTGGGATGTGAGTAAAGAAACTAGCCCAGGGCCTAGCAAACTGCACTTACAACTGCGATGATCCCATGGTGAGGATTTAGACTCACATTCTCAAAGAGAAATGGGGGAAGTGAGTACTGAGGAGAGGAGAACTGAAGCAACAGGGGAAGCAGGCTCAGCAGGGAGCCTGCAGGCTGCGGTGGTGAAGAGAGGCAGGGGGCAGGAGGGGCTGGTACAGGTGCCAGGGGTCAGCTGTCTCTGTCCCCACCCACCCTCCAGAGAAGCCAAGGCATGCGTGGTGCACGGCTCTGACCTGAAGGACATGACATCGGAGCAGCTCGATGAGATCCTCAAGAACCACACAGAGATCGTCTTTGCTCGAACGTCTCCCCAGCAGAAGCTCATCATTGTGGAGGGATGTCAGAGGCAGGTGAGCACAGCCACGGGAGGCAGATGACAGGCAGGGACCGGGGAGGCAGGGACAGGGCCAAGACAAGCATGGAGTGAGAGGCGAGGAGCCAGGCTTGGGAAGGGGTTTCGTCCTCAAGTGTGGCCGTCTTCCCTCCAGGGAGCCATTGTGGCCGTGACGGGTGACGGGGTGAACGACTCCCCTGCATTGAAGAAGGCTGACATTGGCATTGCCATGGGCATCTCTGGCTCTGACGTCTCTAAGCAGGCAGCCGACATGATCCTGCTGGATGACAACTTTGCCTCCATCGTCACGGGGGTGGAGGAGGGTGAGGAGGCTGCATGGGTTGGGATGGTTTGCAGGATACTGAAGCCGGCACCTCTGTTCCCTGTCCCTTTACCCCAGTTGAAGAATCATTCCACAACTCTAGGCAGCCCAGCCCACTTTAGCTTCCCTTGAACACAAAATCTTCCTCTCTTGGGAAGACAGGCAGCCATGCTTCAGGGGCTGGGGGTGGGGAAGAGTCCCTCTGACCTCCCTGATGCCCTCAGAATCTCCCCACAGGCCGCCTGATCTTTGACAACTTGAAGAAATCCATCGCCTACACCCTGACCAGCAACATCCCCGAGATCACCCCCTTCCTGCTGTTCATCATTGCCAACATCCCCCTACCTCTGGGCACTGTGACCATCCTTTGCATTGACCTGGGCACAGATATGGTGAGCGCAGGAGGTGGAGGAGGGGACAGGCAAGGCAATCGTGATGGCACAGTGGCAGGGAGGAGAGGTGCACTGGGGCAGTGGCCCCAGCTGTGGGGGTTACAGGAGACAGGCACAGGCCTGGAAGACAATGGGGTCTGAATACACGCTTTTTTAACTGTGTCAACGATCGTCACTGTCGAAGATCAATTGCTTCTGTCATCTCCTACGTCCCTTCAAATGCCCTCCCTGCCCCATTTCCTACCCCACACAGGTCCCTGCCATCTCCTTGGCCTATGAGGCAGCTGAGAGTGATATCATGAAGCGGCAGCCACGAAACTCCCAGACGGACAAGCTGGTGAATGAGAGGCTCATCAGCATGGCCTACGGACAGATCGGTGCGCCAAGCCCCGGGCCTCGGGAGGGAACCCCAACAGGGTTCTTTTCCCAGCTTTCAGAGGAATGAGCCCCAAGCAAAATTCCAGGACAGAGGCCAGCTACCCAAGGGTCAGGGACCTCCATCTCTGGCCCTGAGGGGCTGTGCCCCTTCTGCTTCCTGCTCTGACCCTGCCCCTGCCTTTGGCCCTCTACCCACAGGGATGATCCAGGCACTGGGTGGCTTCTTCACCTACTTTGTGATCCTGGCAGAGAACGGTTTCCTGCCATCACGGCTACTGGGAATCCGCCTCGACTGGGATGACCGGACCATGAATGATCTGGAGGACAGCTATGGACAGGAGTGGGTGAGTGGTGCTGTGTAAACACAGCGCACATGTGTGAAGGTACGGGAAGCTGAATGCCTGGCAGGAGTGGCCAGTGGTGGCCAACTGGGACTGGGGCTAGGGGTGGATCAGGAGAAACCATGCTACCTTCTGGTCCTACCCTTTCCTCCGACACTCTCATCTGTCTCTGCCCACCCTCCCTCCAGACCTATGAGCAGCGGAAGGTGGTGGAGTTCACGTGCCACACGGCATTCTTTGCCAGCATCGTGGTGGTGCAGTGGGCTGACCTCATCATCTGCAAGACCCGCCGCAACTCAGTCTTCCAGCAGGGCATGAAGTGAGTGCCCACCCCCATGGCACCTACCCACCCAGGCTCTGGGCACACTCACCAACCCACACAGGCCAAGCTTCCAACTCAGCCCTGGACCAGAGCTGTAAGGAGGGCATCAGATTTTAATCTTCCATCTGTATATCCATAGATAGGTTTCATATAGAAGAGAGAAGCCATGCTTCAGGCTCCTAATTTTGCATTTTGTTATTGTCTCTCTCCACCTTTCTTCTCTCCTTCTCTCCCTCCCTTCTTTCCCCCATCTCCTACTTGAGTGCCACCTGCTCCTATCCTTTGCCCAGCCCTAAATCCAGTGTCTTCTGTGCCCACCCCTCCCCTGGCCTTCCGCAGGCAGTCTAGTTTATAGCACTTGCACTGTGGTTCTGGAGGCCACGTGCTGCCGAGGGTCGGGTTCAGCGCTTCTTGCAGTGTGAGTTCCAGCGTGCCAGGCACTGTGCTAAGTGCCTAACACATTGTTTAGCCCCACGATAGCTCTATGAGGTGGGTATTACTGTTTACATTTCATGGATAAGAGGCCCCAAACAGGTTAAATGATGTGCCCAAGGTCACCAAGATGGTAAGGGTTCACCAGATCTGTCTCTAAAACCCAGCCCTGGCTACTACCCAACATTTCTGTGCTCACACCATCTGGCACTGTTTGGAACTCAGTAATGACTGTGATTCTATTATGGGTGGTGGTTGAGCGCTGAAGGTTTCATGCTGGTTCCTTTTATTTTCTCCTACCATAAACAATGGCCACAATTCCTCACATGAGGTTGTTACAGTTTCTTAGTTTGGGGCTGGGGAGGGTGGGGAGAAGATGCCAAAGTGAAGTTAATAACACTTAAGATCCAAGGGAGAATAAAGTGAAAAGCCTGTTAGATAAATAAAGGTAACATGAAGGAAGGAGATTCCAGTAAGCTAAAAATACTAATGGAAAAAAAATGCAATTTGAAGAGAACAAGGAGCAGAGAGTCTAAGAAATTGGGTATAATTCTGGGGCCTGGGACTTGCTATGCACTGCAGGGATGACACACGAAGGTGGGAACATGGCCATAGTGGCTGCATCCAGCCCATCTTAGAGGCAAATGGGAAAAATGGCAAATGAAAATCAGGCTGGGTACAGAGGAAGAGTACTAATACCACCACAGGCCTCACCTTAGGTCCCTGGGCCACTGGGGATCCTCAGAGATGCTATTTGCCTTATTTTGAAAAGCTTTATGAAAATAAAGCACTCACCTATGCGAAGGCAACCAGGCTTACTAATGTGTCATTCTTAGGCAAAAGCCAAGAGCGCATATCATGACGTGGTGATCGGATGCTGATTCACAGTTCTGTCTGGAAGCCATGGATAGTTCTAATTAATTTTAAATGGGGAAATGTATTCAATACTTA
CACTCCCCTGCCCACAGACGCACACACACATGCCCTTATTTCGGTTGGGATCTGCCATCCCCAGACATCTCGCTATCTAGCTTTCTCTTACTTTGGGAGAGGAACAGGAGGGGGATAAACCCTTAATACTACTTTCCTGTTGTCTCCTCTCCTTCCCACTAGGTGATCATGGTAACCGGGGATCACCCTATCACAGCCAAGGCCATTGCCAAAGGCGTGGGCATCATATCAGAGGGTAACGAGACTGTGGAGGACATTGCAGCCCGGCTCAACATTCCCATGAGTCAAGTCAACCCCAGGTGAGGCCTCTGCAGGAAGCCCCTGTGCCCTAATCAACACGTCCTCTTGCACAGAAGGCTTGGGTGTCCCCTGGGAGTATTTGGATAGCATTTCTGGGACCTTTATAGGCCTTACCTCTGACACTATTGTGACTGGTTCCTCAGCCCTGAGCTTGTATCCAGGCTGTGCCACTGAATACCCATGTAACCTTGGAGATGTCACATTCCCTTCCTGAGCCTCCATTTTCTCACCACAAAATTAGGATGCCATCTCCACTGCTGTAGGAGTGGGATGTGAGTAAAGAAACTAGCCCAGGGCCTAGCAAACTGCACTTACAACTGCGATGATCCCATGGTGAGGATTTAGACTCACATTCTCAAAGAGAAATGGGGGAAGTGAGTACTGAGGAGAGGAGAACTGAAGCAACAGGGGAAGCAGGCTCAGCAGGGAGCCTGCAGGCTGCGGTGGTGAAGAGAGGCAGGGGGCAGGAGGGGCTGGTACAGGTGCCAGGGGTCAGCTGTCTCTGTCCCCACCCACCCTCCAGAGAAGCCAAGGCATGCGTGGTGCACGGCTCTGACCTGAAGGACATGACATCGGAGCAGCTCGATGAGATCCTCAAGAACCACACAGAGATCGTCTTTGCTCGAACGTCTCCCCAGCAGAAGCTCATCATTGTGGAGGGATGTCAGAGGCAGGTGAGCACAGCCACGGGAGGCAGATGACAGGCAGGGACCGGGGAGGCAGGGACAGGGCCAAGACAAGCATGGAGTGAGAGGCGAGGAGCCAGGCTTGGGAAGGGGTTTCGTCCTCAAGTGTGGCCGTCTTCCCTCCAGGGAGCCATTGTGGCCGTGACGGGTGACGGGGTGAACGACTCCCCTGCATTGAAGAAGGCTGACATTGGCATTGCCATGGGCATCTCTGGCTCTGACGTCTCTAAGCAGGCAGCCGACATGATCCTGCTGGATGACAACTTTGCCTCCATCGTCACGGGGGTGGAGGAGGGTGAGGAGGCTGCATGGGTTGGGATGGTTTGCAGGATACTGAAGCCGGCACCTCTGTTCCCTGTCCCTTTACCCCAGTTGAAGAATCATTCCACAACTCTAGGCAGCCCAGCCCACTTTAGCTTCCCTTGAACACAAAATCTTCCTCTCTTGGGAAGACAGGCAGCCATGCTTCAGGGGCTGGGGGTGGGGAAGAGTCCCTCTGACCTCCCTGATGCCCTCAGAATCTCCCCACAGGCCGCCTGATCTTTGACAACTTGAAGAAATCCATCGCCTACACCCTGACCAGCAACATCCCCGAGATCACCCCCTTCCTGCTGTTCATCATTGCCAACATCCCCCTACCTCTGGGCACTGTGACCATCCTTTGCATTGACCTGGGCACAGATATGGTGAGCGCAGGAGGTGGAGGAGGGGACAGGCAAGGCAATCGTGATGGCACAGTGGCAGGGAGGAGAGGTGCACTGGGGCAGTGGCCCCAGCTGTGGGGGTTACAGGAGACAGGCACAGGCCTGGAAGACAATGGGGTCTGAATACACGCTTTTTTAACTGTGTCAACGATCGTCACTGTCGAAGATCAATTGCTTCTGTCATCTCCTACGTCCCTTCAAATGCCCTCCCTGCCCCATTTCCTACCCCACACAGGTCCCTGCCATCTCCTTGGCCTATGAGGCAGCTGAGAGTGATATCATGAAGCGGCAGCCACGAAACTCCCAGACGGACAAGCTGGTGAATGAGAGGCTCATCAGCATGGCCTACGGACAGATCAGTGCGCCAAGCCCCGGGCCTCGGGAGGGAACCCCAACAGGGTTCTTTTCCCAGCTTTCAGAGGAATGAGCCCCAAGCAAAATTCCAGGACAGAGGCCAGCTACCCAAGGGTCAGGGACCTCCATCTCTGGCCCTGAGGGGCTGTGCCCCTTCTGCTTCCTGCTCTGACCCTGCCCCTGCCTTTGGCCCTCTACCCACAGGGATGATCCAGGCACTGGGTGGCTTCTTCACCTACTTTGTGATCCTGGCAGAGAACGGTTTCCTGCCATCACGGCTACTGGGAATCCGCCTCGACTGGGATGACCGGACCATGAATGATCTGGAGGACAGCTATGGACAGGAGTGGGTGAGTGGTGCTGTGTAAACACAGCGCACATGTGTGAAGGTACGGGAAGCTGAATGCCTGGCAGGAGTGGCCAGTGGTGGCCAACTGGGACTGGGGCTAGGGGTGGATCAGGAGAAACCATGCTACCTTCTGGTCCTACCCTTTCCTCCGACACTCTCATCTGTCTCTGCCCACCCTCCCTCCAGACCTATGAGCAGCGGAAGGTGGTGGAGTTCACGTGCCACACGGCATTCTTTGCCAGCATCGTGGTGGTGCAGTGGGCTGACCTCATCATCTGCAAGACCCGCCGCAACTCAGTCTTCCAGCAGGGCATGAAGTGAGTGCCCACCCCCATGGCACCTACCCACCCAGGCTCTGGGCACACTCACCAACCCACACAGGCCAAGCTTCCAACTCAGCCCTGGACCAGAGCTGTAAGGAGGGCATCAGATTTTAATCTTCCATCTGTATATCCATAGATAGGTTTCATATAGAAGAGAGAAGCCATGCTTCAGGCTCCTAATTTTGCATTTTGTTATTGTCTCTCTCCACCTTTCTTCTCTCCTTCTCTCCCTCCCTTCTTTCCCCCATCTCCTACTTGAGTGCCACCTGCTCCTATCCTTTGCCCAGCCCTAAATCCAGTGTCTTCTGTGCCCACCCCTCCCCTGGCCTTCCGCAGGCAGTCTAGTTTATAGCACTTGCACTGTGGTTCTGGAGGCCACGTGCTGCCGAGGGTCGGGTTCAGCGCTTCTTGCAGTGTGAGTTCCAGCGTGCCAGGCACTGTGCTAAGTGCCTAACACATTGTTTAGCCCCACGATAGCTCTATGAGGTGGGTATTACTGTTTACATTTCATGGATAAGAGGCCCCAAACAGGTTAAATGATGTGCCCAAGGTCACCAAGATGGTAAGGGTTCACCAGATCTGTCTCTAAAACCCAGCCCTGGCTACTACCCAACATTTCTGTGCTCACACCATCTGGCACTGTTTGGAACTCAGTAATGACTGTGATTCTATTATGGGTGGTGGTTGAGCGCTGAAGGTTTCATGCTGGTTCCTTTTATTTTCTCCTACCATAAACAATGGCCACAATTCCTCACATGAGGTTGTTACAGTTTCTTAGTTTGGGGCTGGGGAGGGTGGGGAGAAGATGCCAAAGTGAAGTTAATAACACTTAAGATCCAAGGGAGAATAAAGTGAAAAGCCTGTTAGATAAATAAAGGTAACATGAAGGAAGGAGATTCCAGTAAGCTAAAAATACTAATGGAAAAAAAATGCAATTTGAAGAGAACAAGGAGCAGAGAGTCTAAGAAATTGGGTATAATTCTGGGGCCTGGGACTTGCTATGCACTGCAGGGATGACACACGAAGGTGGGAACATGGCCATAGTGGCTGCATCCAGCCCATCTTAGAGGCAAATGGGAAAAATGGCAAATGAAAATCAGGCTGGGTACAGAGGAAGAGTACTAATACCACCACAGGCCTCACCTTAGGTCCCTGGGCCACTGGGGATCCTCAGAGATGCTATTTGCCTTATTTTGAAAAGCTTTATGAAAATAAAGCACTCACCTATGCGAAGGCAACCAGGCTTACTAATGTGTCATTCTTAGGCAAAAGCCAAGAGCGCATATCATGACGTGGTGATCGGATGCTGATTCACAGTTCTGTCTGGAAGCCATGGATAGTTCTAATTAATTTTAAATGGGGAAATGTATTCAATACTTA
Task1_train_1958
A genomic change on Chromosome 1 affects ATP1A2 (ATPase Na+/K+ transporting subunit alpha 2). Classify this variant as benign or pathogenic, and name the disease if relevant.
Pathogenic; Fetal akinesia, respiratory insufficiency, microcephaly, polymicrogyria, and dysmorphic facies
CACTCCCCTGCCCACAGACGCACACACACATGCCCTTATTTCGGTTGGGATCTGCCATCCCCAGACATCTCGCTATCTAGCTTTCTCTTACTTTGGGAGAGGAACAGGAGGGGGATAAACCCTTAATACTACTTTCCTGTTGTCTCCTCTCCTTCCCACTAGGTGATCATGGTAACCGGGGATCACCCTATCACAGCCAAGGCCATTGCCAAAGGCGTGGGCATCATATCAGAGGGTAACGAGACTGTGGAGGACATTGCAGCCCGGCTCAACATTCCCATGAGTCAAGTCAACCCCAGGTGAGGCCTCTGCAGGAAGCCCCTGTGCCCTAATCAACACGTCCTCTTGCACAGAAGGCTTGGGTGTCCCCTGGGAGTATTTGGATAGCATTTCTGGGACCTTTATAGGCCTTACCTCTGACACTATTGTGACTGGTTCCTCAGCCCTGAGCTTGTATCCAGGCTGTGCCACTGAATACCCATGTAACCTTGGAGATGTCACATTCCCTTCCTGAGCCTCCATTTTCTCACCACAAAATTAGGATGCCATCTCCACTGCTGTAGGAGTGGGATGTGAGTAAAGAAACTAGCCCAGGGCCTAGCAAACTGCACTTACAACTGCGATGATCCCATGGTGAGGATTTAGACTCACATTCTCAAAGAGAAATGGGGGAAGTGAGTACTGAGGAGAGGAGAACTGAAGCAACAGGGGAAGCAGGCTCAGCAGGGAGCCTGCAGGCTGCGGTGGTGAAGAGAGGCAGGGGGCAGGAGGGGCTGGTACAGGTGCCAGGGGTCAGCTGTCTCTGTCCCCACCCACCCTCCAGAGAAGCCAAGGCATGCGTGGTGCACGGCTCTGACCTGAAGGACATGACATCGGAGCAGCTCGATGAGATCCTCAAGAACCACACAGAGATCGTCTTTGCTCGAACGTCTCCCCAGCAGAAGCTCATCATTGTGGAGGGATGTCAGAGGCAGGTGAGCACAGCCACGGGAGGCAGATGACAGGCAGGGACCGGGGAGGCAGGGACAGGGCCAAGACAAGCATGGAGTGAGAGGCGAGGAGCCAGGCTTGGGAAGGGGTTTCGTCCTCAAGTGTGGCCGTCTTCCCTCCAGGGAGCCATTGTGGCCGTGACGGGTGACGGGGTGAACGACTCCCCTGCATTGAAGAAGGCTGACATTGGCATTGCCATGGGCATCTCTGGCTCTGACGTCTCTAAGCAGGCAGCCGACATGATCCTGCTGGATGACAACTTTGCCTCCATCGTCACGGGGGTGGAGGAGGGTGAGGAGGCTGCATGGGTTGGGATGGTTTGCAGGATACTGAAGCCGGCACCTCTGTTCCCTGTCCCTTTACCCCAGTTGAAGAATCATTCCACAACTCTAGGCAGCCCAGCCCACTTTAGCTTCCCTTGAACACAAAATCTTCCTCTCTTGGGAAGACAGGCAGCCATGCTTCAGGGGCTGGGGGTGGGGAAGAGTCCCTCTGACCTCCCTGATGCCCTCAGAATCTCCCCACAGGCCGCCTGATCTTTGACAACTTGAAGAAATCCATCGCCTACACCCTGACCAGCAACATCCCCGAGATCACCCCCTTCCTGCTGTTCATCATTGCCAACATCCCCCTACCTCTGGGCACTGTGACCATCCTTTGCATTGACCTGGGCACAGATATGGTGAGCGCAGGAGGTGGAGGAGGGGACAGGCAAGGCAATCGTGATGGCACAGTGGCAGGGAGGAGAGGTGCACTGGGGCAGTGGCCCCAGCTGTGGGGGTTACAGGAGACAGGCACAGGCCTGGAAGACAATGGGGTCTGAATACACGCTTTTTTAACTGTGTCAACGATCGTCACTGTCGAAGATCAATTGCTTCTGTCATCTCCTACGTCCCTTCAAATGCCCTCCCTGCCCCATTTCCTACCCCACACAGGTCCCTGCCATCTCCTTGGCCTATGAGGCAGCTGAGAGTGATATCATGAAGCGGCAGCCACGAAACTCCCAGACGGACAAGCTGGTGAATGAGAGGCTCATCAGCATGGCCTACGGACAGATCGGTGCGCCAAGCCCCGGGCCTCGGGAGGGAACCCCAACAGGGTTCTTTTCCCAGCTTTCAGAGGAATGAGCCCCAAGCAAAATTCCAGGACAGAGGCCAGCTACCCAAGGGTCAGGGACCTCCATCTCTGGCCCTGAGGGGCTGTGCCCCTTCTGCTTCCTGCTCTGACCCTGCCCCTGCCTTTGGCCCTCTACCCACAGGGATGATCCAGGCACTGGGTGGCTTCTTCACCTACTTTGTGATCCTGGCAGAGAACGGTTTCCTGCCATCACGGCTACTGGGAATCCGCCTCGACTGGGATGACCGGACCATGAATGATCTGGAGGACAGCTATGGACAGGAGTGGGTGAGTGGTGCTGTGTAAACACAGCGCACATGTGTGAAGGTACGGGAAGCTGAATGCCTGGCAGGAGTGGCCAGTGGTGGCCAACTGGGACTGGGGCTAGGGGTGGATCAGGAGAAACCATGCTACCTTCTGGTCCTACCCTTTCCTCCGACACTCTCATCTGTCTCTGCCCACCCTCCCTCCAGACCTATGAGCAGCGGAAGGTGGTGGAGTTCACGTGCCACACGGCATTCTTTGCCAGCATCGTGGTGGTGCAGTGGGCTGACCTCATCATCTGCAAGACCCGCCGCAACTCAGTCTTCCAGCAGGGCATGAAGTGAGTGCCCACCCCCATGGCACCTACCCACCCAGGCTCTGGGCACACTCACCAACCCACACAGGCCAAGCTTCCAACTCAGCCCTGGACCAGAGCTGTAAGGAGGGCATCAGATTTTAATCTTCCATCTGTATATCCATAGATAGGTTTCATATAGAAGAGAGAAGCCATGCTTCAGGCTCCTAATTTTGCATTTTGTTATTGTCTCTCTCCACCTTTCTTCTCTCCTTCTCTCCCTCCCTTCTTTCCCCCATCTCCTACTTGAGTGCCACCTGCTCCTATCCTTTGCCCAGCCCTAAATCCAGTGTCTTCTGTGCCCACCCCTCCCCTGGCCTTCCGCAGGCAGTCTAGTTTATAGCACTTGCACTGTGGTTCTGGAGGCCACGTGCTGCCGAGGGTCGGGTTCAGCGCTTCTTGCAGTGTGAGTTCCAGCGTGCCAGGCACTGTGCTAAGTGCCTAACACATTGTTTAGCCCCACGATAGCTCTATGAGGTGGGTATTACTGTTTACATTTCATGGATAAGAGGCCCCAAACAGGTTAAATGATGTGCCCAAGGTCACCAAGATGGTAAGGGTTCACCAGATCTGTCTCTAAAACCCAGCCCTGGCTACTACCCAACATTTCTGTGCTCACACCATCTGGCACTGTTTGGAACTCAGTAATGACTGTGATTCTATTATGGGTGGTGGTTGAGCGCTGAAGGTTTCATGCTGGTTCCTTTTATTTTCTCCTACCATAAACAATGGCCACAATTCCTCACATGAGGTTGTTACAGTTTCTTAGTTTGGGGCTGGGGAGGGTGGGGAGAAGATGCCAAAGTGAAGTTAATAACACTTAAGATCCAAGGGAGAATAAAGTGAAAAGCCTGTTAGATAAATAAAGGTAACATGAAGGAAGGAGATTCCAGTAAGCTAAAAATACTAATGGAAAAAAAATGCAATTTGAAGAGAACAAGGAGCAGAGAGTCTAAGAAATTGGGTATAATTCTGGGGCCTGGGACTTGCTATGCACTGCAGGGATGACACACGAAGGTGGGAACATGGCCATAGTGGCTGCATCCAGCCCATCTTAGAGGCAAATGGGAAAAATGGCAAATGAAAATCAGGCTGGGTACAGAGGAAGAGTACTAATACCACCACAGGCCTCACCTTAGGTCCCTGGGCCACTGGGGATCCTCAGAGATGCTATTTGCCTTATTTTGAAAAGCTTTATGAAAATAAAGCACTCACCTATGCGAAGGCAACCAGGCTTACTAATGTGTCATTCTTAGGCAAAAGCCAAGAGCGCATATCATGACGTGGTGATCGGATGCTGATTCACAGTTCTGTCTGGAAGCCATGGATAGTTCTAATTAATTTTAAATGGGGAAATGTATTCAATACTTA
CACTCCCCTGCCCACAGACGCACACACACATGCCCTTATTTCGGTTGGGATCTGCCATCCCCAGACATCTCGCTATCTAGCTTTCTCTTACTTTGGGAGAGGAACAGGAGGGGGATAAACCCTTAATACTACTTTCCTGTTGTCTCCTCTCCTTCCCACTAGGTGATCATGGTAACCGGGGATCACCCTATCACAGCCAAGGCCATTGCCAAAGGCGTGGGCATCATATCAGAGGGTAACGAGACTGTGGAGGACATTGCAGCCCGGCTCAACATTCCCATGAGTCAAGTCAACCCCAGGTGAGGCCTCTGCAGGAAGCCCCTGTGCCCTAATCAACACGTCCTCTTGCACAGAAGGCTTGGGTGTCCCCTGGGAGTATTTGGATAGCATTTCTGGGACCTTTATAGGCCTTACCTCTGACACTATTGTGACTGGTTCCTCAGCCCTGAGCTTGTATCCAGGCTGTGCCACTGAATACCCATGTAACCTTGGAGATGTCACATTCCCTTCCTGAGCCTCCATTTTCTCACCACAAAATTAGGATGCCATCTCCACTGCTGTAGGAGTGGGATGTGAGTAAAGAAACTAGCCCAGGGCCTAGCAAACTGCACTTACAACTGCGATGATCCCATGGTGAGGATTTAGACTCACATTCTCAAAGAGAAATGGGGGAAGTGAGTACTGAGGAGAGGAGAACTGAAGCAACAGGGGAAGCAGGCTCAGCAGGGAGCCTGCAGGCTGCGGTGGTGAAGAGAGGCAGGGGGCAGGAGGGGCTGGTACAGGTGCCAGGGGTCAGCTGTCTCTGTCCCCACCCACCCTCCAGAGAAGCCAAGGCATGCGTGGTGCACGGCTCTGACCTGAAGGACATGACATCGGAGCAGCTCGATGAGATCCTCAAGAACCACACAGAGATCGTCTTTGCTCGAACGTCTCCCCAGCAGAAGCTCATCATTGTGGAGGGATGTCAGAGGCAGGTGAGCACAGCCACGGGAGGCAGATGACAGGCAGGGACCGGGGAGGCAGGGACAGGGCCAAGACAAGCATGGAGTGAGAGGCGAGGAGCCAGGCTTGGGAAGGGGTTTCGTCCTCAAGTGTGGCCGTCTTCCCTCCAGGGAGCCATTGTGGCCGTGACGGGTGACGGGGTGAACGACTCCCCTGCATTGAAGAAGGCTGACATTGGCATTGCCATGGGCATCTCTGGCTCTGACGTCTCTAAGCAGGCAGCCGACATGATCCTGCTGGATGACAACTTTGCCTCCATCGTCACGGGGGTGGAGGAGGGTGAGGAGGCTGCATGGGTTGGGATGGTTTGCAGGATACTGAAGCCGGCACCTCTGTTCCCTGTCCCTTTACCCCAGTTGAAGAATCATTCCACAACTCTAGGCAGCCCAGCCCACTTTAGCTTCCCTTGAACACAAAATCTTCCTCTCTTGGGAAGACAGGCAGCCATGCTTCAGGGGCTGGGGGTGGGGAAGAGTCCCTCTGACCTCCCTGATGCCCTCAGAATCTCCCCACAGGCCGCCTGATCTTTGACAACTTGAAGAAATCCATCGCCTACACCCTGACCAGCAACATCCCCGAGATCACCCCCTTCCTGCTGTTCATCATTGCCAACATCCCCCTACCTCTGGGCACTGTGACCATCCTTTGCATTGACCTGGGCACAGATATGGTGAGCGCAGGAGGTGGAGGAGGGGACAGGCAAGGCAATCGTGATGGCACAGTGGCAGGGAGGAGAGGTGCACTGGGGCAGTGGCCCCAGCTGTGGGGGTTACAGGAGACAGGCACAGGCCTGGAAGACAATGGGGTCTGAATACACGCTTTTTTAACTGTGTCAACGATCGTCACTGTCGAAGATCAATTGCTTCTGTCATCTCCTACGTCCCTTCAAATGCCCTCCCTGCCCCATTTCCTACCCCACACAGGTCCCTGCCATCTCCTTGGCCTATGAGGCAGCTGAGAGTGATATCATGAAGCGGCAGCCACGAAACTCCCAGACGGACAAGCTGGTGAATGAGAGGCTCATCAGCATGGCCTACGGACAGATCAGTGCGCCAAGCCCCGGGCCTCGGGAGGGAACCCCAACAGGGTTCTTTTCCCAGCTTTCAGAGGAATGAGCCCCAAGCAAAATTCCAGGACAGAGGCCAGCTACCCAAGGGTCAGGGACCTCCATCTCTGGCCCTGAGGGGCTGTGCCCCTTCTGCTTCCTGCTCTGACCCTGCCCCTGCCTTTGGCCCTCTACCCACAGGGATGATCCAGGCACTGGGTGGCTTCTTCACCTACTTTGTGATCCTGGCAGAGAACGGTTTCCTGCCATCACGGCTACTGGGAATCCGCCTCGACTGGGATGACCGGACCATGAATGATCTGGAGGACAGCTATGGACAGGAGTGGGTGAGTGGTGCTGTGTAAACACAGCGCACATGTGTGAAGGTACGGGAAGCTGAATGCCTGGCAGGAGTGGCCAGTGGTGGCCAACTGGGACTGGGGCTAGGGGTGGATCAGGAGAAACCATGCTACCTTCTGGTCCTACCCTTTCCTCCGACACTCTCATCTGTCTCTGCCCACCCTCCCTCCAGACCTATGAGCAGCGGAAGGTGGTGGAGTTCACGTGCCACACGGCATTCTTTGCCAGCATCGTGGTGGTGCAGTGGGCTGACCTCATCATCTGCAAGACCCGCCGCAACTCAGTCTTCCAGCAGGGCATGAAGTGAGTGCCCACCCCCATGGCACCTACCCACCCAGGCTCTGGGCACACTCACCAACCCACACAGGCCAAGCTTCCAACTCAGCCCTGGACCAGAGCTGTAAGGAGGGCATCAGATTTTAATCTTCCATCTGTATATCCATAGATAGGTTTCATATAGAAGAGAGAAGCCATGCTTCAGGCTCCTAATTTTGCATTTTGTTATTGTCTCTCTCCACCTTTCTTCTCTCCTTCTCTCCCTCCCTTCTTTCCCCCATCTCCTACTTGAGTGCCACCTGCTCCTATCCTTTGCCCAGCCCTAAATCCAGTGTCTTCTGTGCCCACCCCTCCCCTGGCCTTCCGCAGGCAGTCTAGTTTATAGCACTTGCACTGTGGTTCTGGAGGCCACGTGCTGCCGAGGGTCGGGTTCAGCGCTTCTTGCAGTGTGAGTTCCAGCGTGCCAGGCACTGTGCTAAGTGCCTAACACATTGTTTAGCCCCACGATAGCTCTATGAGGTGGGTATTACTGTTTACATTTCATGGATAAGAGGCCCCAAACAGGTTAAATGATGTGCCCAAGGTCACCAAGATGGTAAGGGTTCACCAGATCTGTCTCTAAAACCCAGCCCTGGCTACTACCCAACATTTCTGTGCTCACACCATCTGGCACTGTTTGGAACTCAGTAATGACTGTGATTCTATTATGGGTGGTGGTTGAGCGCTGAAGGTTTCATGCTGGTTCCTTTTATTTTCTCCTACCATAAACAATGGCCACAATTCCTCACATGAGGTTGTTACAGTTTCTTAGTTTGGGGCTGGGGAGGGTGGGGAGAAGATGCCAAAGTGAAGTTAATAACACTTAAGATCCAAGGGAGAATAAAGTGAAAAGCCTGTTAGATAAATAAAGGTAACATGAAGGAAGGAGATTCCAGTAAGCTAAAAATACTAATGGAAAAAAAATGCAATTTGAAGAGAACAAGGAGCAGAGAGTCTAAGAAATTGGGTATAATTCTGGGGCCTGGGACTTGCTATGCACTGCAGGGATGACACACGAAGGTGGGAACATGGCCATAGTGGCTGCATCCAGCCCATCTTAGAGGCAAATGGGAAAAATGGCAAATGAAAATCAGGCTGGGTACAGAGGAAGAGTACTAATACCACCACAGGCCTCACCTTAGGTCCCTGGGCCACTGGGGATCCTCAGAGATGCTATTTGCCTTATTTTGAAAAGCTTTATGAAAATAAAGCACTCACCTATGCGAAGGCAACCAGGCTTACTAATGTGTCATTCTTAGGCAAAAGCCAAGAGCGCATATCATGACGTGGTGATCGGATGCTGATTCACAGTTCTGTCTGGAAGCCATGGATAGTTCTAATTAATTTTAAATGGGGAAATGTATTCAATACTTA
Task1_train_1959
A sequence alteration has been identified in ATP1A2 (ATPase Na+/K+ transporting subunit alpha 2) on Chromosome 1. Is it disease-inducing or harmless?
Pathogenic; Developmental and epileptic encephalopathy 98
CACTCCCCTGCCCACAGACGCACACACACATGCCCTTATTTCGGTTGGGATCTGCCATCCCCAGACATCTCGCTATCTAGCTTTCTCTTACTTTGGGAGAGGAACAGGAGGGGGATAAACCCTTAATACTACTTTCCTGTTGTCTCCTCTCCTTCCCACTAGGTGATCATGGTAACCGGGGATCACCCTATCACAGCCAAGGCCATTGCCAAAGGCGTGGGCATCATATCAGAGGGTAACGAGACTGTGGAGGACATTGCAGCCCGGCTCAACATTCCCATGAGTCAAGTCAACCCCAGGTGAGGCCTCTGCAGGAAGCCCCTGTGCCCTAATCAACACGTCCTCTTGCACAGAAGGCTTGGGTGTCCCCTGGGAGTATTTGGATAGCATTTCTGGGACCTTTATAGGCCTTACCTCTGACACTATTGTGACTGGTTCCTCAGCCCTGAGCTTGTATCCAGGCTGTGCCACTGAATACCCATGTAACCTTGGAGATGTCACATTCCCTTCCTGAGCCTCCATTTTCTCACCACAAAATTAGGATGCCATCTCCACTGCTGTAGGAGTGGGATGTGAGTAAAGAAACTAGCCCAGGGCCTAGCAAACTGCACTTACAACTGCGATGATCCCATGGTGAGGATTTAGACTCACATTCTCAAAGAGAAATGGGGGAAGTGAGTACTGAGGAGAGGAGAACTGAAGCAACAGGGGAAGCAGGCTCAGCAGGGAGCCTGCAGGCTGCGGTGGTGAAGAGAGGCAGGGGGCAGGAGGGGCTGGTACAGGTGCCAGGGGTCAGCTGTCTCTGTCCCCACCCACCCTCCAGAGAAGCCAAGGCATGCGTGGTGCACGGCTCTGACCTGAAGGACATGACATCGGAGCAGCTCGATGAGATCCTCAAGAACCACACAGAGATCGTCTTTGCTCGAACGTCTCCCCAGCAGAAGCTCATCATTGTGGAGGGATGTCAGAGGCAGGTGAGCACAGCCACGGGAGGCAGATGACAGGCAGGGACCGGGGAGGCAGGGACAGGGCCAAGACAAGCATGGAGTGAGAGGCGAGGAGCCAGGCTTGGGAAGGGGTTTCGTCCTCAAGTGTGGCCGTCTTCCCTCCAGGGAGCCATTGTGGCCGTGACGGGTGACGGGGTGAACGACTCCCCTGCATTGAAGAAGGCTGACATTGGCATTGCCATGGGCATCTCTGGCTCTGACGTCTCTAAGCAGGCAGCCGACATGATCCTGCTGGATGACAACTTTGCCTCCATCGTCACGGGGGTGGAGGAGGGTGAGGAGGCTGCATGGGTTGGGATGGTTTGCAGGATACTGAAGCCGGCACCTCTGTTCCCTGTCCCTTTACCCCAGTTGAAGAATCATTCCACAACTCTAGGCAGCCCAGCCCACTTTAGCTTCCCTTGAACACAAAATCTTCCTCTCTTGGGAAGACAGGCAGCCATGCTTCAGGGGCTGGGGGTGGGGAAGAGTCCCTCTGACCTCCCTGATGCCCTCAGAATCTCCCCACAGGCCGCCTGATCTTTGACAACTTGAAGAAATCCATCGCCTACACCCTGACCAGCAACATCCCCGAGATCACCCCCTTCCTGCTGTTCATCATTGCCAACATCCCCCTACCTCTGGGCACTGTGACCATCCTTTGCATTGACCTGGGCACAGATATGGTGAGCGCAGGAGGTGGAGGAGGGGACAGGCAAGGCAATCGTGATGGCACAGTGGCAGGGAGGAGAGGTGCACTGGGGCAGTGGCCCCAGCTGTGGGGGTTACAGGAGACAGGCACAGGCCTGGAAGACAATGGGGTCTGAATACACGCTTTTTTAACTGTGTCAACGATCGTCACTGTCGAAGATCAATTGCTTCTGTCATCTCCTACGTCCCTTCAAATGCCCTCCCTGCCCCATTTCCTACCCCACACAGGTCCCTGCCATCTCCTTGGCCTATGAGGCAGCTGAGAGTGATATCATGAAGCGGCAGCCACGAAACTCCCAGACGGACAAGCTGGTGAATGAGAGGCTCATCAGCATGGCCTACGGACAGATCGGTGCGCCAAGCCCCGGGCCTCGGGAGGGAACCCCAACAGGGTTCTTTTCCCAGCTTTCAGAGGAATGAGCCCCAAGCAAAATTCCAGGACAGAGGCCAGCTACCCAAGGGTCAGGGACCTCCATCTCTGGCCCTGAGGGGCTGTGCCCCTTCTGCTTCCTGCTCTGACCCTGCCCCTGCCTTTGGCCCTCTACCCACAGGGATGATCCAGGCACTGGGTGGCTTCTTCACCTACTTTGTGATCCTGGCAGAGAACGGTTTCCTGCCATCACGGCTACTGGGAATCCGCCTCGACTGGGATGACCGGACCATGAATGATCTGGAGGACAGCTATGGACAGGAGTGGGTGAGTGGTGCTGTGTAAACACAGCGCACATGTGTGAAGGTACGGGAAGCTGAATGCCTGGCAGGAGTGGCCAGTGGTGGCCAACTGGGACTGGGGCTAGGGGTGGATCAGGAGAAACCATGCTACCTTCTGGTCCTACCCTTTCCTCCGACACTCTCATCTGTCTCTGCCCACCCTCCCTCCAGACCTATGAGCAGCGGAAGGTGGTGGAGTTCACGTGCCACACGGCATTCTTTGCCAGCATCGTGGTGGTGCAGTGGGCTGACCTCATCATCTGCAAGACCCGCCGCAACTCAGTCTTCCAGCAGGGCATGAAGTGAGTGCCCACCCCCATGGCACCTACCCACCCAGGCTCTGGGCACACTCACCAACCCACACAGGCCAAGCTTCCAACTCAGCCCTGGACCAGAGCTGTAAGGAGGGCATCAGATTTTAATCTTCCATCTGTATATCCATAGATAGGTTTCATATAGAAGAGAGAAGCCATGCTTCAGGCTCCTAATTTTGCATTTTGTTATTGTCTCTCTCCACCTTTCTTCTCTCCTTCTCTCCCTCCCTTCTTTCCCCCATCTCCTACTTGAGTGCCACCTGCTCCTATCCTTTGCCCAGCCCTAAATCCAGTGTCTTCTGTGCCCACCCCTCCCCTGGCCTTCCGCAGGCAGTCTAGTTTATAGCACTTGCACTGTGGTTCTGGAGGCCACGTGCTGCCGAGGGTCGGGTTCAGCGCTTCTTGCAGTGTGAGTTCCAGCGTGCCAGGCACTGTGCTAAGTGCCTAACACATTGTTTAGCCCCACGATAGCTCTATGAGGTGGGTATTACTGTTTACATTTCATGGATAAGAGGCCCCAAACAGGTTAAATGATGTGCCCAAGGTCACCAAGATGGTAAGGGTTCACCAGATCTGTCTCTAAAACCCAGCCCTGGCTACTACCCAACATTTCTGTGCTCACACCATCTGGCACTGTTTGGAACTCAGTAATGACTGTGATTCTATTATGGGTGGTGGTTGAGCGCTGAAGGTTTCATGCTGGTTCCTTTTATTTTCTCCTACCATAAACAATGGCCACAATTCCTCACATGAGGTTGTTACAGTTTCTTAGTTTGGGGCTGGGGAGGGTGGGGAGAAGATGCCAAAGTGAAGTTAATAACACTTAAGATCCAAGGGAGAATAAAGTGAAAAGCCTGTTAGATAAATAAAGGTAACATGAAGGAAGGAGATTCCAGTAAGCTAAAAATACTAATGGAAAAAAAATGCAATTTGAAGAGAACAAGGAGCAGAGAGTCTAAGAAATTGGGTATAATTCTGGGGCCTGGGACTTGCTATGCACTGCAGGGATGACACACGAAGGTGGGAACATGGCCATAGTGGCTGCATCCAGCCCATCTTAGAGGCAAATGGGAAAAATGGCAAATGAAAATCAGGCTGGGTACAGAGGAAGAGTACTAATACCACCACAGGCCTCACCTTAGGTCCCTGGGCCACTGGGGATCCTCAGAGATGCTATTTGCCTTATTTTGAAAAGCTTTATGAAAATAAAGCACTCACCTATGCGAAGGCAACCAGGCTTACTAATGTGTCATTCTTAGGCAAAAGCCAAGAGCGCATATCATGACGTGGTGATCGGATGCTGATTCACAGTTCTGTCTGGAAGCCATGGATAGTTCTAATTAATTTTAAATGGGGAAATGTATTCAATACTTA
CACTCCCCTGCCCACAGACGCACACACACATGCCCTTATTTCGGTTGGGATCTGCCATCCCCAGACATCTCGCTATCTAGCTTTCTCTTACTTTGGGAGAGGAACAGGAGGGGGATAAACCCTTAATACTACTTTCCTGTTGTCTCCTCTCCTTCCCACTAGGTGATCATGGTAACCGGGGATCACCCTATCACAGCCAAGGCCATTGCCAAAGGCGTGGGCATCATATCAGAGGGTAACGAGACTGTGGAGGACATTGCAGCCCGGCTCAACATTCCCATGAGTCAAGTCAACCCCAGGTGAGGCCTCTGCAGGAAGCCCCTGTGCCCTAATCAACACGTCCTCTTGCACAGAAGGCTTGGGTGTCCCCTGGGAGTATTTGGATAGCATTTCTGGGACCTTTATAGGCCTTACCTCTGACACTATTGTGACTGGTTCCTCAGCCCTGAGCTTGTATCCAGGCTGTGCCACTGAATACCCATGTAACCTTGGAGATGTCACATTCCCTTCCTGAGCCTCCATTTTCTCACCACAAAATTAGGATGCCATCTCCACTGCTGTAGGAGTGGGATGTGAGTAAAGAAACTAGCCCAGGGCCTAGCAAACTGCACTTACAACTGCGATGATCCCATGGTGAGGATTTAGACTCACATTCTCAAAGAGAAATGGGGGAAGTGAGTACTGAGGAGAGGAGAACTGAAGCAACAGGGGAAGCAGGCTCAGCAGGGAGCCTGCAGGCTGCGGTGGTGAAGAGAGGCAGGGGGCAGGAGGGGCTGGTACAGGTGCCAGGGGTCAGCTGTCTCTGTCCCCACCCACCCTCCAGAGAAGCCAAGGCATGCGTGGTGCACGGCTCTGACCTGAAGGACATGACATCGGAGCAGCTCGATGAGATCCTCAAGAACCACACAGAGATCGTCTTTGCTCGAACGTCTCCCCAGCAGAAGCTCATCATTGTGGAGGGATGTCAGAGGCAGGTGAGCACAGCCACGGGAGGCAGATGACAGGCAGGGACCGGGGAGGCAGGGACAGGGCCAAGACAAGCATGGAGTGAGAGGCGAGGAGCCAGGCTTGGGAAGGGGTTTCGTCCTCAAGTGTGGCCGTCTTCCCTCCAGGGAGCCATTGTGGCCGTGACGGGTGACGGGGTGAACGACTCCCCTGCATTGAAGAAGGCTGACATTGGCATTGCCATGGGCATCTCTGGCTCTGACGTCTCTAAGCAGGCAGCCGACATGATCCTGCTGGATGACAACTTTGCCTCCATCGTCACGGGGGTGGAGGAGGGTGAGGAGGCTGCATGGGTTGGGATGGTTTGCAGGATACTGAAGCCGGCACCTCTGTTCCCTGTCCCTTTACCCCAGTTGAAGAATCATTCCACAACTCTAGGCAGCCCAGCCCACTTTAGCTTCCCTTGAACACAAAATCTTCCTCTCTTGGGAAGACAGGCAGCCATGCTTCAGGGGCTGGGGGTGGGGAAGAGTCCCTCTGACCTCCCTGATGCCCTCAGAATCTCCCCACAGGCCGCCTGATCTTTGACAACTTGAAGAAATCCATCGCCTACACCCTGACCAGCAACATCCCCGAGATCACCCCCTTCCTGCTGTTCATCATTGCCAACATCCCCCTACCTCTGGGCACTGTGACCATCCTTTGCATTGACCTGGGCACAGATATGGTGAGCGCAGGAGGTGGAGGAGGGGACAGGCAAGGCAATCGTGATGGCACAGTGGCAGGGAGGAGAGGTGCACTGGGGCAGTGGCCCCAGCTGTGGGGGTTACAGGAGACAGGCACAGGCCTGGAAGACAATGGGGTCTGAATACACGCTTTTTTAACTGTGTCAACGATCGTCACTGTCGAAGATCAATTGCTTCTGTCATCTCCTACGTCCCTTCAAATGCCCTCCCTGCCCCATTTCCTACCCCACACAGGTCCCTGCCATCTCCTTGGCCTATGAGGCAGCTGAGAGTGATATCATGAAGCGGCAGCCACGAAACTCCCAGACGGACAAGCTGGTGAATGAGAGGCTCATCAGCATGGCCTACGGACAGATCAGTGCGCCAAGCCCCGGGCCTCGGGAGGGAACCCCAACAGGGTTCTTTTCCCAGCTTTCAGAGGAATGAGCCCCAAGCAAAATTCCAGGACAGAGGCCAGCTACCCAAGGGTCAGGGACCTCCATCTCTGGCCCTGAGGGGCTGTGCCCCTTCTGCTTCCTGCTCTGACCCTGCCCCTGCCTTTGGCCCTCTACCCACAGGGATGATCCAGGCACTGGGTGGCTTCTTCACCTACTTTGTGATCCTGGCAGAGAACGGTTTCCTGCCATCACGGCTACTGGGAATCCGCCTCGACTGGGATGACCGGACCATGAATGATCTGGAGGACAGCTATGGACAGGAGTGGGTGAGTGGTGCTGTGTAAACACAGCGCACATGTGTGAAGGTACGGGAAGCTGAATGCCTGGCAGGAGTGGCCAGTGGTGGCCAACTGGGACTGGGGCTAGGGGTGGATCAGGAGAAACCATGCTACCTTCTGGTCCTACCCTTTCCTCCGACACTCTCATCTGTCTCTGCCCACCCTCCCTCCAGACCTATGAGCAGCGGAAGGTGGTGGAGTTCACGTGCCACACGGCATTCTTTGCCAGCATCGTGGTGGTGCAGTGGGCTGACCTCATCATCTGCAAGACCCGCCGCAACTCAGTCTTCCAGCAGGGCATGAAGTGAGTGCCCACCCCCATGGCACCTACCCACCCAGGCTCTGGGCACACTCACCAACCCACACAGGCCAAGCTTCCAACTCAGCCCTGGACCAGAGCTGTAAGGAGGGCATCAGATTTTAATCTTCCATCTGTATATCCATAGATAGGTTTCATATAGAAGAGAGAAGCCATGCTTCAGGCTCCTAATTTTGCATTTTGTTATTGTCTCTCTCCACCTTTCTTCTCTCCTTCTCTCCCTCCCTTCTTTCCCCCATCTCCTACTTGAGTGCCACCTGCTCCTATCCTTTGCCCAGCCCTAAATCCAGTGTCTTCTGTGCCCACCCCTCCCCTGGCCTTCCGCAGGCAGTCTAGTTTATAGCACTTGCACTGTGGTTCTGGAGGCCACGTGCTGCCGAGGGTCGGGTTCAGCGCTTCTTGCAGTGTGAGTTCCAGCGTGCCAGGCACTGTGCTAAGTGCCTAACACATTGTTTAGCCCCACGATAGCTCTATGAGGTGGGTATTACTGTTTACATTTCATGGATAAGAGGCCCCAAACAGGTTAAATGATGTGCCCAAGGTCACCAAGATGGTAAGGGTTCACCAGATCTGTCTCTAAAACCCAGCCCTGGCTACTACCCAACATTTCTGTGCTCACACCATCTGGCACTGTTTGGAACTCAGTAATGACTGTGATTCTATTATGGGTGGTGGTTGAGCGCTGAAGGTTTCATGCTGGTTCCTTTTATTTTCTCCTACCATAAACAATGGCCACAATTCCTCACATGAGGTTGTTACAGTTTCTTAGTTTGGGGCTGGGGAGGGTGGGGAGAAGATGCCAAAGTGAAGTTAATAACACTTAAGATCCAAGGGAGAATAAAGTGAAAAGCCTGTTAGATAAATAAAGGTAACATGAAGGAAGGAGATTCCAGTAAGCTAAAAATACTAATGGAAAAAAAATGCAATTTGAAGAGAACAAGGAGCAGAGAGTCTAAGAAATTGGGTATAATTCTGGGGCCTGGGACTTGCTATGCACTGCAGGGATGACACACGAAGGTGGGAACATGGCCATAGTGGCTGCATCCAGCCCATCTTAGAGGCAAATGGGAAAAATGGCAAATGAAAATCAGGCTGGGTACAGAGGAAGAGTACTAATACCACCACAGGCCTCACCTTAGGTCCCTGGGCCACTGGGGATCCTCAGAGATGCTATTTGCCTTATTTTGAAAAGCTTTATGAAAATAAAGCACTCACCTATGCGAAGGCAACCAGGCTTACTAATGTGTCATTCTTAGGCAAAAGCCAAGAGCGCATATCATGACGTGGTGATCGGATGCTGATTCACAGTTCTGTCTGGAAGCCATGGATAGTTCTAATTAATTTTAAATGGGGAAATGTATTCAATACTTA
Task1_train_1960
Gene ATP1A2 (ATPase Na+/K+ transporting subunit alpha 2) on Chromosome 1 is altered by this variant. Does this mutation result in a disease or is it benign?
Pathogenic; Migraine, familial hemiplegic, 2
CACTCCCCTGCCCACAGACGCACACACACATGCCCTTATTTCGGTTGGGATCTGCCATCCCCAGACATCTCGCTATCTAGCTTTCTCTTACTTTGGGAGAGGAACAGGAGGGGGATAAACCCTTAATACTACTTTCCTGTTGTCTCCTCTCCTTCCCACTAGGTGATCATGGTAACCGGGGATCACCCTATCACAGCCAAGGCCATTGCCAAAGGCGTGGGCATCATATCAGAGGGTAACGAGACTGTGGAGGACATTGCAGCCCGGCTCAACATTCCCATGAGTCAAGTCAACCCCAGGTGAGGCCTCTGCAGGAAGCCCCTGTGCCCTAATCAACACGTCCTCTTGCACAGAAGGCTTGGGTGTCCCCTGGGAGTATTTGGATAGCATTTCTGGGACCTTTATAGGCCTTACCTCTGACACTATTGTGACTGGTTCCTCAGCCCTGAGCTTGTATCCAGGCTGTGCCACTGAATACCCATGTAACCTTGGAGATGTCACATTCCCTTCCTGAGCCTCCATTTTCTCACCACAAAATTAGGATGCCATCTCCACTGCTGTAGGAGTGGGATGTGAGTAAAGAAACTAGCCCAGGGCCTAGCAAACTGCACTTACAACTGCGATGATCCCATGGTGAGGATTTAGACTCACATTCTCAAAGAGAAATGGGGGAAGTGAGTACTGAGGAGAGGAGAACTGAAGCAACAGGGGAAGCAGGCTCAGCAGGGAGCCTGCAGGCTGCGGTGGTGAAGAGAGGCAGGGGGCAGGAGGGGCTGGTACAGGTGCCAGGGGTCAGCTGTCTCTGTCCCCACCCACCCTCCAGAGAAGCCAAGGCATGCGTGGTGCACGGCTCTGACCTGAAGGACATGACATCGGAGCAGCTCGATGAGATCCTCAAGAACCACACAGAGATCGTCTTTGCTCGAACGTCTCCCCAGCAGAAGCTCATCATTGTGGAGGGATGTCAGAGGCAGGTGAGCACAGCCACGGGAGGCAGATGACAGGCAGGGACCGGGGAGGCAGGGACAGGGCCAAGACAAGCATGGAGTGAGAGGCGAGGAGCCAGGCTTGGGAAGGGGTTTCGTCCTCAAGTGTGGCCGTCTTCCCTCCAGGGAGCCATTGTGGCCGTGACGGGTGACGGGGTGAACGACTCCCCTGCATTGAAGAAGGCTGACATTGGCATTGCCATGGGCATCTCTGGCTCTGACGTCTCTAAGCAGGCAGCCGACATGATCCTGCTGGATGACAACTTTGCCTCCATCGTCACGGGGGTGGAGGAGGGTGAGGAGGCTGCATGGGTTGGGATGGTTTGCAGGATACTGAAGCCGGCACCTCTGTTCCCTGTCCCTTTACCCCAGTTGAAGAATCATTCCACAACTCTAGGCAGCCCAGCCCACTTTAGCTTCCCTTGAACACAAAATCTTCCTCTCTTGGGAAGACAGGCAGCCATGCTTCAGGGGCTGGGGGTGGGGAAGAGTCCCTCTGACCTCCCTGATGCCCTCAGAATCTCCCCACAGGCCGCCTGATCTTTGACAACTTGAAGAAATCCATCGCCTACACCCTGACCAGCAACATCCCCGAGATCACCCCCTTCCTGCTGTTCATCATTGCCAACATCCCCCTACCTCTGGGCACTGTGACCATCCTTTGCATTGACCTGGGCACAGATATGGTGAGCGCAGGAGGTGGAGGAGGGGACAGGCAAGGCAATCGTGATGGCACAGTGGCAGGGAGGAGAGGTGCACTGGGGCAGTGGCCCCAGCTGTGGGGGTTACAGGAGACAGGCACAGGCCTGGAAGACAATGGGGTCTGAATACACGCTTTTTTAACTGTGTCAACGATCGTCACTGTCGAAGATCAATTGCTTCTGTCATCTCCTACGTCCCTTCAAATGCCCTCCCTGCCCCATTTCCTACCCCACACAGGTCCCTGCCATCTCCTTGGCCTATGAGGCAGCTGAGAGTGATATCATGAAGCGGCAGCCACGAAACTCCCAGACGGACAAGCTGGTGAATGAGAGGCTCATCAGCATGGCCTACGGACAGATCGGTGCGCCAAGCCCCGGGCCTCGGGAGGGAACCCCAACAGGGTTCTTTTCCCAGCTTTCAGAGGAATGAGCCCCAAGCAAAATTCCAGGACAGAGGCCAGCTACCCAAGGGTCAGGGACCTCCATCTCTGGCCCTGAGGGGCTGTGCCCCTTCTGCTTCCTGCTCTGACCCTGCCCCTGCCTTTGGCCCTCTACCCACAGGGATGATCCAGGCACTGGGTGGCTTCTTCACCTACTTTGTGATCCTGGCAGAGAACGGTTTCCTGCCATCACGGCTACTGGGAATCCGCCTCGACTGGGATGACCGGACCATGAATGATCTGGAGGACAGCTATGGACAGGAGTGGGTGAGTGGTGCTGTGTAAACACAGCGCACATGTGTGAAGGTACGGGAAGCTGAATGCCTGGCAGGAGTGGCCAGTGGTGGCCAACTGGGACTGGGGCTAGGGGTGGATCAGGAGAAACCATGCTACCTTCTGGTCCTACCCTTTCCTCCGACACTCTCATCTGTCTCTGCCCACCCTCCCTCCAGACCTATGAGCAGCGGAAGGTGGTGGAGTTCACGTGCCACACGGCATTCTTTGCCAGCATCGTGGTGGTGCAGTGGGCTGACCTCATCATCTGCAAGACCCGCCGCAACTCAGTCTTCCAGCAGGGCATGAAGTGAGTGCCCACCCCCATGGCACCTACCCACCCAGGCTCTGGGCACACTCACCAACCCACACAGGCCAAGCTTCCAACTCAGCCCTGGACCAGAGCTGTAAGGAGGGCATCAGATTTTAATCTTCCATCTGTATATCCATAGATAGGTTTCATATAGAAGAGAGAAGCCATGCTTCAGGCTCCTAATTTTGCATTTTGTTATTGTCTCTCTCCACCTTTCTTCTCTCCTTCTCTCCCTCCCTTCTTTCCCCCATCTCCTACTTGAGTGCCACCTGCTCCTATCCTTTGCCCAGCCCTAAATCCAGTGTCTTCTGTGCCCACCCCTCCCCTGGCCTTCCGCAGGCAGTCTAGTTTATAGCACTTGCACTGTGGTTCTGGAGGCCACGTGCTGCCGAGGGTCGGGTTCAGCGCTTCTTGCAGTGTGAGTTCCAGCGTGCCAGGCACTGTGCTAAGTGCCTAACACATTGTTTAGCCCCACGATAGCTCTATGAGGTGGGTATTACTGTTTACATTTCATGGATAAGAGGCCCCAAACAGGTTAAATGATGTGCCCAAGGTCACCAAGATGGTAAGGGTTCACCAGATCTGTCTCTAAAACCCAGCCCTGGCTACTACCCAACATTTCTGTGCTCACACCATCTGGCACTGTTTGGAACTCAGTAATGACTGTGATTCTATTATGGGTGGTGGTTGAGCGCTGAAGGTTTCATGCTGGTTCCTTTTATTTTCTCCTACCATAAACAATGGCCACAATTCCTCACATGAGGTTGTTACAGTTTCTTAGTTTGGGGCTGGGGAGGGTGGGGAGAAGATGCCAAAGTGAAGTTAATAACACTTAAGATCCAAGGGAGAATAAAGTGAAAAGCCTGTTAGATAAATAAAGGTAACATGAAGGAAGGAGATTCCAGTAAGCTAAAAATACTAATGGAAAAAAAATGCAATTTGAAGAGAACAAGGAGCAGAGAGTCTAAGAAATTGGGTATAATTCTGGGGCCTGGGACTTGCTATGCACTGCAGGGATGACACACGAAGGTGGGAACATGGCCATAGTGGCTGCATCCAGCCCATCTTAGAGGCAAATGGGAAAAATGGCAAATGAAAATCAGGCTGGGTACAGAGGAAGAGTACTAATACCACCACAGGCCTCACCTTAGGTCCCTGGGCCACTGGGGATCCTCAGAGATGCTATTTGCCTTATTTTGAAAAGCTTTATGAAAATAAAGCACTCACCTATGCGAAGGCAACCAGGCTTACTAATGTGTCATTCTTAGGCAAAAGCCAAGAGCGCATATCATGACGTGGTGATCGGATGCTGATTCACAGTTCTGTCTGGAAGCCATGGATAGTTCTAATTAATTTTAAATGGGGAAATGTATTCAATACTTA
CACTCCCCTGCCCACAGACGCACACACACATGCCCTTATTTCGGTTGGGATCTGCCATCCCCAGACATCTCGCTATCTAGCTTTCTCTTACTTTGGGAGAGGAACAGGAGGGGGATAAACCCTTAATACTACTTTCCTGTTGTCTCCTCTCCTTCCCACTAGGTGATCATGGTAACCGGGGATCACCCTATCACAGCCAAGGCCATTGCCAAAGGCGTGGGCATCATATCAGAGGGTAACGAGACTGTGGAGGACATTGCAGCCCGGCTCAACATTCCCATGAGTCAAGTCAACCCCAGGTGAGGCCTCTGCAGGAAGCCCCTGTGCCCTAATCAACACGTCCTCTTGCACAGAAGGCTTGGGTGTCCCCTGGGAGTATTTGGATAGCATTTCTGGGACCTTTATAGGCCTTACCTCTGACACTATTGTGACTGGTTCCTCAGCCCTGAGCTTGTATCCAGGCTGTGCCACTGAATACCCATGTAACCTTGGAGATGTCACATTCCCTTCCTGAGCCTCCATTTTCTCACCACAAAATTAGGATGCCATCTCCACTGCTGTAGGAGTGGGATGTGAGTAAAGAAACTAGCCCAGGGCCTAGCAAACTGCACTTACAACTGCGATGATCCCATGGTGAGGATTTAGACTCACATTCTCAAAGAGAAATGGGGGAAGTGAGTACTGAGGAGAGGAGAACTGAAGCAACAGGGGAAGCAGGCTCAGCAGGGAGCCTGCAGGCTGCGGTGGTGAAGAGAGGCAGGGGGCAGGAGGGGCTGGTACAGGTGCCAGGGGTCAGCTGTCTCTGTCCCCACCCACCCTCCAGAGAAGCCAAGGCATGCGTGGTGCACGGCTCTGACCTGAAGGACATGACATCGGAGCAGCTCGATGAGATCCTCAAGAACCACACAGAGATCGTCTTTGCTCGAACGTCTCCCCAGCAGAAGCTCATCATTGTGGAGGGATGTCAGAGGCAGGTGAGCACAGCCACGGGAGGCAGATGACAGGCAGGGACCGGGGAGGCAGGGACAGGGCCAAGACAAGCATGGAGTGAGAGGCGAGGAGCCAGGCTTGGGAAGGGGTTTCGTCCTCAAGTGTGGCCGTCTTCCCTCCAGGGAGCCATTGTGGCCGTGACGGGTGACGGGGTGAACGACTCCCCTGCATTGAAGAAGGCTGACATTGGCATTGCCATGGGCATCTCTGGCTCTGACGTCTCTAAGCAGGCAGCCGACATGATCCTGCTGGATGACAACTTTGCCTCCATCGTCACGGGGGTGGAGGAGGGTGAGGAGGCTGCATGGGTTGGGATGGTTTGCAGGATACTGAAGCCGGCACCTCTGTTCCCTGTCCCTTTACCCCAGTTGAAGAATCATTCCACAACTCTAGGCAGCCCAGCCCACTTTAGCTTCCCTTGAACACAAAATCTTCCTCTCTTGGGAAGACAGGCAGCCATGCTTCAGGGGCTGGGGGTGGGGAAGAGTCCCTCTGACCTCCCTGATGCCCTCAGAATCTCCCCACAGGCCGCCTGATCTTTGACAACTTGAAGAAATCCATCGCCTACACCCTGACCAGCAACATCCCCGAGATCACCCCCTTCCTGCTGTTCATCATTGCCAACATCCCCCTACCTCTGGGCACTGTGACCATCCTTTGCATTGACCTGGGCACAGATATGGTGAGCGCAGGAGGTGGAGGAGGGGACAGGCAAGGCAATCGTGATGGCACAGTGGCAGGGAGGAGAGGTGCACTGGGGCAGTGGCCCCAGCTGTGGGGGTTACAGGAGACAGGCACAGGCCTGGAAGACAATGGGGTCTGAATACACGCTTTTTTAACTGTGTCAACGATCGTCACTGTCGAAGATCAATTGCTTCTGTCATCTCCTACGTCCCTTCAAATGCCCTCCCTGCCCCATTTCCTACCCCACACAGGTCCCTGCCATCTCCTTGGCCTATGAGGCAGCTGAGAGTGATATCATGAAGCGGCAGCCACGAAACTCCCAGACGGACAAGCTGGTGAATGAGAGGCTCATCAGCATGGCCTACGGACAGATCAGTGCGCCAAGCCCCGGGCCTCGGGAGGGAACCCCAACAGGGTTCTTTTCCCAGCTTTCAGAGGAATGAGCCCCAAGCAAAATTCCAGGACAGAGGCCAGCTACCCAAGGGTCAGGGACCTCCATCTCTGGCCCTGAGGGGCTGTGCCCCTTCTGCTTCCTGCTCTGACCCTGCCCCTGCCTTTGGCCCTCTACCCACAGGGATGATCCAGGCACTGGGTGGCTTCTTCACCTACTTTGTGATCCTGGCAGAGAACGGTTTCCTGCCATCACGGCTACTGGGAATCCGCCTCGACTGGGATGACCGGACCATGAATGATCTGGAGGACAGCTATGGACAGGAGTGGGTGAGTGGTGCTGTGTAAACACAGCGCACATGTGTGAAGGTACGGGAAGCTGAATGCCTGGCAGGAGTGGCCAGTGGTGGCCAACTGGGACTGGGGCTAGGGGTGGATCAGGAGAAACCATGCTACCTTCTGGTCCTACCCTTTCCTCCGACACTCTCATCTGTCTCTGCCCACCCTCCCTCCAGACCTATGAGCAGCGGAAGGTGGTGGAGTTCACGTGCCACACGGCATTCTTTGCCAGCATCGTGGTGGTGCAGTGGGCTGACCTCATCATCTGCAAGACCCGCCGCAACTCAGTCTTCCAGCAGGGCATGAAGTGAGTGCCCACCCCCATGGCACCTACCCACCCAGGCTCTGGGCACACTCACCAACCCACACAGGCCAAGCTTCCAACTCAGCCCTGGACCAGAGCTGTAAGGAGGGCATCAGATTTTAATCTTCCATCTGTATATCCATAGATAGGTTTCATATAGAAGAGAGAAGCCATGCTTCAGGCTCCTAATTTTGCATTTTGTTATTGTCTCTCTCCACCTTTCTTCTCTCCTTCTCTCCCTCCCTTCTTTCCCCCATCTCCTACTTGAGTGCCACCTGCTCCTATCCTTTGCCCAGCCCTAAATCCAGTGTCTTCTGTGCCCACCCCTCCCCTGGCCTTCCGCAGGCAGTCTAGTTTATAGCACTTGCACTGTGGTTCTGGAGGCCACGTGCTGCCGAGGGTCGGGTTCAGCGCTTCTTGCAGTGTGAGTTCCAGCGTGCCAGGCACTGTGCTAAGTGCCTAACACATTGTTTAGCCCCACGATAGCTCTATGAGGTGGGTATTACTGTTTACATTTCATGGATAAGAGGCCCCAAACAGGTTAAATGATGTGCCCAAGGTCACCAAGATGGTAAGGGTTCACCAGATCTGTCTCTAAAACCCAGCCCTGGCTACTACCCAACATTTCTGTGCTCACACCATCTGGCACTGTTTGGAACTCAGTAATGACTGTGATTCTATTATGGGTGGTGGTTGAGCGCTGAAGGTTTCATGCTGGTTCCTTTTATTTTCTCCTACCATAAACAATGGCCACAATTCCTCACATGAGGTTGTTACAGTTTCTTAGTTTGGGGCTGGGGAGGGTGGGGAGAAGATGCCAAAGTGAAGTTAATAACACTTAAGATCCAAGGGAGAATAAAGTGAAAAGCCTGTTAGATAAATAAAGGTAACATGAAGGAAGGAGATTCCAGTAAGCTAAAAATACTAATGGAAAAAAAATGCAATTTGAAGAGAACAAGGAGCAGAGAGTCTAAGAAATTGGGTATAATTCTGGGGCCTGGGACTTGCTATGCACTGCAGGGATGACACACGAAGGTGGGAACATGGCCATAGTGGCTGCATCCAGCCCATCTTAGAGGCAAATGGGAAAAATGGCAAATGAAAATCAGGCTGGGTACAGAGGAAGAGTACTAATACCACCACAGGCCTCACCTTAGGTCCCTGGGCCACTGGGGATCCTCAGAGATGCTATTTGCCTTATTTTGAAAAGCTTTATGAAAATAAAGCACTCACCTATGCGAAGGCAACCAGGCTTACTAATGTGTCATTCTTAGGCAAAAGCCAAGAGCGCATATCATGACGTGGTGATCGGATGCTGATTCACAGTTCTGTCTGGAAGCCATGGATAGTTCTAATTAATTTTAAATGGGGAAATGTATTCAATACTTA
Task1_train_1961
A genetic alteration is present in ATP1A2 (ATPase Na+/K+ transporting subunit alpha 2) on Chromosome 1. Is this variant benign or disease-causing, and if the latter, which condition is involved?
Pathogenic; Alternating hemiplegia of childhood 1
CACTCCCCTGCCCACAGACGCACACACACATGCCCTTATTTCGGTTGGGATCTGCCATCCCCAGACATCTCGCTATCTAGCTTTCTCTTACTTTGGGAGAGGAACAGGAGGGGGATAAACCCTTAATACTACTTTCCTGTTGTCTCCTCTCCTTCCCACTAGGTGATCATGGTAACCGGGGATCACCCTATCACAGCCAAGGCCATTGCCAAAGGCGTGGGCATCATATCAGAGGGTAACGAGACTGTGGAGGACATTGCAGCCCGGCTCAACATTCCCATGAGTCAAGTCAACCCCAGGTGAGGCCTCTGCAGGAAGCCCCTGTGCCCTAATCAACACGTCCTCTTGCACAGAAGGCTTGGGTGTCCCCTGGGAGTATTTGGATAGCATTTCTGGGACCTTTATAGGCCTTACCTCTGACACTATTGTGACTGGTTCCTCAGCCCTGAGCTTGTATCCAGGCTGTGCCACTGAATACCCATGTAACCTTGGAGATGTCACATTCCCTTCCTGAGCCTCCATTTTCTCACCACAAAATTAGGATGCCATCTCCACTGCTGTAGGAGTGGGATGTGAGTAAAGAAACTAGCCCAGGGCCTAGCAAACTGCACTTACAACTGCGATGATCCCATGGTGAGGATTTAGACTCACATTCTCAAAGAGAAATGGGGGAAGTGAGTACTGAGGAGAGGAGAACTGAAGCAACAGGGGAAGCAGGCTCAGCAGGGAGCCTGCAGGCTGCGGTGGTGAAGAGAGGCAGGGGGCAGGAGGGGCTGGTACAGGTGCCAGGGGTCAGCTGTCTCTGTCCCCACCCACCCTCCAGAGAAGCCAAGGCATGCGTGGTGCACGGCTCTGACCTGAAGGACATGACATCGGAGCAGCTCGATGAGATCCTCAAGAACCACACAGAGATCGTCTTTGCTCGAACGTCTCCCCAGCAGAAGCTCATCATTGTGGAGGGATGTCAGAGGCAGGTGAGCACAGCCACGGGAGGCAGATGACAGGCAGGGACCGGGGAGGCAGGGACAGGGCCAAGACAAGCATGGAGTGAGAGGCGAGGAGCCAGGCTTGGGAAGGGGTTTCGTCCTCAAGTGTGGCCGTCTTCCCTCCAGGGAGCCATTGTGGCCGTGACGGGTGACGGGGTGAACGACTCCCCTGCATTGAAGAAGGCTGACATTGGCATTGCCATGGGCATCTCTGGCTCTGACGTCTCTAAGCAGGCAGCCGACATGATCCTGCTGGATGACAACTTTGCCTCCATCGTCACGGGGGTGGAGGAGGGTGAGGAGGCTGCATGGGTTGGGATGGTTTGCAGGATACTGAAGCCGGCACCTCTGTTCCCTGTCCCTTTACCCCAGTTGAAGAATCATTCCACAACTCTAGGCAGCCCAGCCCACTTTAGCTTCCCTTGAACACAAAATCTTCCTCTCTTGGGAAGACAGGCAGCCATGCTTCAGGGGCTGGGGGTGGGGAAGAGTCCCTCTGACCTCCCTGATGCCCTCAGAATCTCCCCACAGGCCGCCTGATCTTTGACAACTTGAAGAAATCCATCGCCTACACCCTGACCAGCAACATCCCCGAGATCACCCCCTTCCTGCTGTTCATCATTGCCAACATCCCCCTACCTCTGGGCACTGTGACCATCCTTTGCATTGACCTGGGCACAGATATGGTGAGCGCAGGAGGTGGAGGAGGGGACAGGCAAGGCAATCGTGATGGCACAGTGGCAGGGAGGAGAGGTGCACTGGGGCAGTGGCCCCAGCTGTGGGGGTTACAGGAGACAGGCACAGGCCTGGAAGACAATGGGGTCTGAATACACGCTTTTTTAACTGTGTCAACGATCGTCACTGTCGAAGATCAATTGCTTCTGTCATCTCCTACGTCCCTTCAAATGCCCTCCCTGCCCCATTTCCTACCCCACACAGGTCCCTGCCATCTCCTTGGCCTATGAGGCAGCTGAGAGTGATATCATGAAGCGGCAGCCACGAAACTCCCAGACGGACAAGCTGGTGAATGAGAGGCTCATCAGCATGGCCTACGGACAGATCGGTGCGCCAAGCCCCGGGCCTCGGGAGGGAACCCCAACAGGGTTCTTTTCCCAGCTTTCAGAGGAATGAGCCCCAAGCAAAATTCCAGGACAGAGGCCAGCTACCCAAGGGTCAGGGACCTCCATCTCTGGCCCTGAGGGGCTGTGCCCCTTCTGCTTCCTGCTCTGACCCTGCCCCTGCCTTTGGCCCTCTACCCACAGGGATGATCCAGGCACTGGGTGGCTTCTTCACCTACTTTGTGATCCTGGCAGAGAACGGTTTCCTGCCATCACGGCTACTGGGAATCCGCCTCGACTGGGATGACCGGACCATGAATGATCTGGAGGACAGCTATGGACAGGAGTGGGTGAGTGGTGCTGTGTAAACACAGCGCACATGTGTGAAGGTACGGGAAGCTGAATGCCTGGCAGGAGTGGCCAGTGGTGGCCAACTGGGACTGGGGCTAGGGGTGGATCAGGAGAAACCATGCTACCTTCTGGTCCTACCCTTTCCTCCGACACTCTCATCTGTCTCTGCCCACCCTCCCTCCAGACCTATGAGCAGCGGAAGGTGGTGGAGTTCACGTGCCACACGGCATTCTTTGCCAGCATCGTGGTGGTGCAGTGGGCTGACCTCATCATCTGCAAGACCCGCCGCAACTCAGTCTTCCAGCAGGGCATGAAGTGAGTGCCCACCCCCATGGCACCTACCCACCCAGGCTCTGGGCACACTCACCAACCCACACAGGCCAAGCTTCCAACTCAGCCCTGGACCAGAGCTGTAAGGAGGGCATCAGATTTTAATCTTCCATCTGTATATCCATAGATAGGTTTCATATAGAAGAGAGAAGCCATGCTTCAGGCTCCTAATTTTGCATTTTGTTATTGTCTCTCTCCACCTTTCTTCTCTCCTTCTCTCCCTCCCTTCTTTCCCCCATCTCCTACTTGAGTGCCACCTGCTCCTATCCTTTGCCCAGCCCTAAATCCAGTGTCTTCTGTGCCCACCCCTCCCCTGGCCTTCCGCAGGCAGTCTAGTTTATAGCACTTGCACTGTGGTTCTGGAGGCCACGTGCTGCCGAGGGTCGGGTTCAGCGCTTCTTGCAGTGTGAGTTCCAGCGTGCCAGGCACTGTGCTAAGTGCCTAACACATTGTTTAGCCCCACGATAGCTCTATGAGGTGGGTATTACTGTTTACATTTCATGGATAAGAGGCCCCAAACAGGTTAAATGATGTGCCCAAGGTCACCAAGATGGTAAGGGTTCACCAGATCTGTCTCTAAAACCCAGCCCTGGCTACTACCCAACATTTCTGTGCTCACACCATCTGGCACTGTTTGGAACTCAGTAATGACTGTGATTCTATTATGGGTGGTGGTTGAGCGCTGAAGGTTTCATGCTGGTTCCTTTTATTTTCTCCTACCATAAACAATGGCCACAATTCCTCACATGAGGTTGTTACAGTTTCTTAGTTTGGGGCTGGGGAGGGTGGGGAGAAGATGCCAAAGTGAAGTTAATAACACTTAAGATCCAAGGGAGAATAAAGTGAAAAGCCTGTTAGATAAATAAAGGTAACATGAAGGAAGGAGATTCCAGTAAGCTAAAAATACTAATGGAAAAAAAATGCAATTTGAAGAGAACAAGGAGCAGAGAGTCTAAGAAATTGGGTATAATTCTGGGGCCTGGGACTTGCTATGCACTGCAGGGATGACACACGAAGGTGGGAACATGGCCATAGTGGCTGCATCCAGCCCATCTTAGAGGCAAATGGGAAAAATGGCAAATGAAAATCAGGCTGGGTACAGAGGAAGAGTACTAATACCACCACAGGCCTCACCTTAGGTCCCTGGGCCACTGGGGATCCTCAGAGATGCTATTTGCCTTATTTTGAAAAGCTTTATGAAAATAAAGCACTCACCTATGCGAAGGCAACCAGGCTTACTAATGTGTCATTCTTAGGCAAAAGCCAAGAGCGCATATCATGACGTGGTGATCGGATGCTGATTCACAGTTCTGTCTGGAAGCCATGGATAGTTCTAATTAATTTTAAATGGGGAAATGTATTCAATACTTA
CACTCCCCTGCCCACAGACGCACACACACATGCCCTTATTTCGGTTGGGATCTGCCATCCCCAGACATCTCGCTATCTAGCTTTCTCTTACTTTGGGAGAGGAACAGGAGGGGGATAAACCCTTAATACTACTTTCCTGTTGTCTCCTCTCCTTCCCACTAGGTGATCATGGTAACCGGGGATCACCCTATCACAGCCAAGGCCATTGCCAAAGGCGTGGGCATCATATCAGAGGGTAACGAGACTGTGGAGGACATTGCAGCCCGGCTCAACATTCCCATGAGTCAAGTCAACCCCAGGTGAGGCCTCTGCAGGAAGCCCCTGTGCCCTAATCAACACGTCCTCTTGCACAGAAGGCTTGGGTGTCCCCTGGGAGTATTTGGATAGCATTTCTGGGACCTTTATAGGCCTTACCTCTGACACTATTGTGACTGGTTCCTCAGCCCTGAGCTTGTATCCAGGCTGTGCCACTGAATACCCATGTAACCTTGGAGATGTCACATTCCCTTCCTGAGCCTCCATTTTCTCACCACAAAATTAGGATGCCATCTCCACTGCTGTAGGAGTGGGATGTGAGTAAAGAAACTAGCCCAGGGCCTAGCAAACTGCACTTACAACTGCGATGATCCCATGGTGAGGATTTAGACTCACATTCTCAAAGAGAAATGGGGGAAGTGAGTACTGAGGAGAGGAGAACTGAAGCAACAGGGGAAGCAGGCTCAGCAGGGAGCCTGCAGGCTGCGGTGGTGAAGAGAGGCAGGGGGCAGGAGGGGCTGGTACAGGTGCCAGGGGTCAGCTGTCTCTGTCCCCACCCACCCTCCAGAGAAGCCAAGGCATGCGTGGTGCACGGCTCTGACCTGAAGGACATGACATCGGAGCAGCTCGATGAGATCCTCAAGAACCACACAGAGATCGTCTTTGCTCGAACGTCTCCCCAGCAGAAGCTCATCATTGTGGAGGGATGTCAGAGGCAGGTGAGCACAGCCACGGGAGGCAGATGACAGGCAGGGACCGGGGAGGCAGGGACAGGGCCAAGACAAGCATGGAGTGAGAGGCGAGGAGCCAGGCTTGGGAAGGGGTTTCGTCCTCAAGTGTGGCCGTCTTCCCTCCAGGGAGCCATTGTGGCCGTGACGGGTGACGGGGTGAACGACTCCCCTGCATTGAAGAAGGCTGACATTGGCATTGCCATGGGCATCTCTGGCTCTGACGTCTCTAAGCAGGCAGCCGACATGATCCTGCTGGATGACAACTTTGCCTCCATCGTCACGGGGGTGGAGGAGGGTGAGGAGGCTGCATGGGTTGGGATGGTTTGCAGGATACTGAAGCCGGCACCTCTGTTCCCTGTCCCTTTACCCCAGTTGAAGAATCATTCCACAACTCTAGGCAGCCCAGCCCACTTTAGCTTCCCTTGAACACAAAATCTTCCTCTCTTGGGAAGACAGGCAGCCATGCTTCAGGGGCTGGGGGTGGGGAAGAGTCCCTCTGACCTCCCTGATGCCCTCAGAATCTCCCCACAGGCCGCCTGATCTTTGACAACTTGAAGAAATCCATCGCCTACACCCTGACCAGCAACATCCCCGAGATCACCCCCTTCCTGCTGTTCATCATTGCCAACATCCCCCTACCTCTGGGCACTGTGACCATCCTTTGCATTGACCTGGGCACAGATATGGTGAGCGCAGGAGGTGGAGGAGGGGACAGGCAAGGCAATCGTGATGGCACAGTGGCAGGGAGGAGAGGTGCACTGGGGCAGTGGCCCCAGCTGTGGGGGTTACAGGAGACAGGCACAGGCCTGGAAGACAATGGGGTCTGAATACACGCTTTTTTAACTGTGTCAACGATCGTCACTGTCGAAGATCAATTGCTTCTGTCATCTCCTACGTCCCTTCAAATGCCCTCCCTGCCCCATTTCCTACCCCACACAGGTCCCTGCCATCTCCTTGGCCTATGAGGCAGCTGAGAGTGATATCATGAAGCGGCAGCCACGAAACTCCCAGACGGACAAGCTGGTGAATGAGAGGCTCATCAGCATGGCCTACGGACAGATCAGTGCGCCAAGCCCCGGGCCTCGGGAGGGAACCCCAACAGGGTTCTTTTCCCAGCTTTCAGAGGAATGAGCCCCAAGCAAAATTCCAGGACAGAGGCCAGCTACCCAAGGGTCAGGGACCTCCATCTCTGGCCCTGAGGGGCTGTGCCCCTTCTGCTTCCTGCTCTGACCCTGCCCCTGCCTTTGGCCCTCTACCCACAGGGATGATCCAGGCACTGGGTGGCTTCTTCACCTACTTTGTGATCCTGGCAGAGAACGGTTTCCTGCCATCACGGCTACTGGGAATCCGCCTCGACTGGGATGACCGGACCATGAATGATCTGGAGGACAGCTATGGACAGGAGTGGGTGAGTGGTGCTGTGTAAACACAGCGCACATGTGTGAAGGTACGGGAAGCTGAATGCCTGGCAGGAGTGGCCAGTGGTGGCCAACTGGGACTGGGGCTAGGGGTGGATCAGGAGAAACCATGCTACCTTCTGGTCCTACCCTTTCCTCCGACACTCTCATCTGTCTCTGCCCACCCTCCCTCCAGACCTATGAGCAGCGGAAGGTGGTGGAGTTCACGTGCCACACGGCATTCTTTGCCAGCATCGTGGTGGTGCAGTGGGCTGACCTCATCATCTGCAAGACCCGCCGCAACTCAGTCTTCCAGCAGGGCATGAAGTGAGTGCCCACCCCCATGGCACCTACCCACCCAGGCTCTGGGCACACTCACCAACCCACACAGGCCAAGCTTCCAACTCAGCCCTGGACCAGAGCTGTAAGGAGGGCATCAGATTTTAATCTTCCATCTGTATATCCATAGATAGGTTTCATATAGAAGAGAGAAGCCATGCTTCAGGCTCCTAATTTTGCATTTTGTTATTGTCTCTCTCCACCTTTCTTCTCTCCTTCTCTCCCTCCCTTCTTTCCCCCATCTCCTACTTGAGTGCCACCTGCTCCTATCCTTTGCCCAGCCCTAAATCCAGTGTCTTCTGTGCCCACCCCTCCCCTGGCCTTCCGCAGGCAGTCTAGTTTATAGCACTTGCACTGTGGTTCTGGAGGCCACGTGCTGCCGAGGGTCGGGTTCAGCGCTTCTTGCAGTGTGAGTTCCAGCGTGCCAGGCACTGTGCTAAGTGCCTAACACATTGTTTAGCCCCACGATAGCTCTATGAGGTGGGTATTACTGTTTACATTTCATGGATAAGAGGCCCCAAACAGGTTAAATGATGTGCCCAAGGTCACCAAGATGGTAAGGGTTCACCAGATCTGTCTCTAAAACCCAGCCCTGGCTACTACCCAACATTTCTGTGCTCACACCATCTGGCACTGTTTGGAACTCAGTAATGACTGTGATTCTATTATGGGTGGTGGTTGAGCGCTGAAGGTTTCATGCTGGTTCCTTTTATTTTCTCCTACCATAAACAATGGCCACAATTCCTCACATGAGGTTGTTACAGTTTCTTAGTTTGGGGCTGGGGAGGGTGGGGAGAAGATGCCAAAGTGAAGTTAATAACACTTAAGATCCAAGGGAGAATAAAGTGAAAAGCCTGTTAGATAAATAAAGGTAACATGAAGGAAGGAGATTCCAGTAAGCTAAAAATACTAATGGAAAAAAAATGCAATTTGAAGAGAACAAGGAGCAGAGAGTCTAAGAAATTGGGTATAATTCTGGGGCCTGGGACTTGCTATGCACTGCAGGGATGACACACGAAGGTGGGAACATGGCCATAGTGGCTGCATCCAGCCCATCTTAGAGGCAAATGGGAAAAATGGCAAATGAAAATCAGGCTGGGTACAGAGGAAGAGTACTAATACCACCACAGGCCTCACCTTAGGTCCCTGGGCCACTGGGGATCCTCAGAGATGCTATTTGCCTTATTTTGAAAAGCTTTATGAAAATAAAGCACTCACCTATGCGAAGGCAACCAGGCTTACTAATGTGTCATTCTTAGGCAAAAGCCAAGAGCGCATATCATGACGTGGTGATCGGATGCTGATTCACAGTTCTGTCTGGAAGCCATGGATAGTTCTAATTAATTTTAAATGGGGAAATGTATTCAATACTTA
Task1_train_1962
This alteration occurs within gene ATP1A2 (ATPase Na+/K+ transporting subunit alpha 2) located on Chromosome 1. Is it associated with a disease or is it a benign variant?
Pathogenic; Familial hemiplegic migraine
CACTCCCCTGCCCACAGACGCACACACACATGCCCTTATTTCGGTTGGGATCTGCCATCCCCAGACATCTCGCTATCTAGCTTTCTCTTACTTTGGGAGAGGAACAGGAGGGGGATAAACCCTTAATACTACTTTCCTGTTGTCTCCTCTCCTTCCCACTAGGTGATCATGGTAACCGGGGATCACCCTATCACAGCCAAGGCCATTGCCAAAGGCGTGGGCATCATATCAGAGGGTAACGAGACTGTGGAGGACATTGCAGCCCGGCTCAACATTCCCATGAGTCAAGTCAACCCCAGGTGAGGCCTCTGCAGGAAGCCCCTGTGCCCTAATCAACACGTCCTCTTGCACAGAAGGCTTGGGTGTCCCCTGGGAGTATTTGGATAGCATTTCTGGGACCTTTATAGGCCTTACCTCTGACACTATTGTGACTGGTTCCTCAGCCCTGAGCTTGTATCCAGGCTGTGCCACTGAATACCCATGTAACCTTGGAGATGTCACATTCCCTTCCTGAGCCTCCATTTTCTCACCACAAAATTAGGATGCCATCTCCACTGCTGTAGGAGTGGGATGTGAGTAAAGAAACTAGCCCAGGGCCTAGCAAACTGCACTTACAACTGCGATGATCCCATGGTGAGGATTTAGACTCACATTCTCAAAGAGAAATGGGGGAAGTGAGTACTGAGGAGAGGAGAACTGAAGCAACAGGGGAAGCAGGCTCAGCAGGGAGCCTGCAGGCTGCGGTGGTGAAGAGAGGCAGGGGGCAGGAGGGGCTGGTACAGGTGCCAGGGGTCAGCTGTCTCTGTCCCCACCCACCCTCCAGAGAAGCCAAGGCATGCGTGGTGCACGGCTCTGACCTGAAGGACATGACATCGGAGCAGCTCGATGAGATCCTCAAGAACCACACAGAGATCGTCTTTGCTCGAACGTCTCCCCAGCAGAAGCTCATCATTGTGGAGGGATGTCAGAGGCAGGTGAGCACAGCCACGGGAGGCAGATGACAGGCAGGGACCGGGGAGGCAGGGACAGGGCCAAGACAAGCATGGAGTGAGAGGCGAGGAGCCAGGCTTGGGAAGGGGTTTCGTCCTCAAGTGTGGCCGTCTTCCCTCCAGGGAGCCATTGTGGCCGTGACGGGTGACGGGGTGAACGACTCCCCTGCATTGAAGAAGGCTGACATTGGCATTGCCATGGGCATCTCTGGCTCTGACGTCTCTAAGCAGGCAGCCGACATGATCCTGCTGGATGACAACTTTGCCTCCATCGTCACGGGGGTGGAGGAGGGTGAGGAGGCTGCATGGGTTGGGATGGTTTGCAGGATACTGAAGCCGGCACCTCTGTTCCCTGTCCCTTTACCCCAGTTGAAGAATCATTCCACAACTCTAGGCAGCCCAGCCCACTTTAGCTTCCCTTGAACACAAAATCTTCCTCTCTTGGGAAGACAGGCAGCCATGCTTCAGGGGCTGGGGGTGGGGAAGAGTCCCTCTGACCTCCCTGATGCCCTCAGAATCTCCCCACAGGCCGCCTGATCTTTGACAACTTGAAGAAATCCATCGCCTACACCCTGACCAGCAACATCCCCGAGATCACCCCCTTCCTGCTGTTCATCATTGCCAACATCCCCCTACCTCTGGGCACTGTGACCATCCTTTGCATTGACCTGGGCACAGATATGGTGAGCGCAGGAGGTGGAGGAGGGGACAGGCAAGGCAATCGTGATGGCACAGTGGCAGGGAGGAGAGGTGCACTGGGGCAGTGGCCCCAGCTGTGGGGGTTACAGGAGACAGGCACAGGCCTGGAAGACAATGGGGTCTGAATACACGCTTTTTTAACTGTGTCAACGATCGTCACTGTCGAAGATCAATTGCTTCTGTCATCTCCTACGTCCCTTCAAATGCCCTCCCTGCCCCATTTCCTACCCCACACAGGTCCCTGCCATCTCCTTGGCCTATGAGGCAGCTGAGAGTGATATCATGAAGCGGCAGCCACGAAACTCCCAGACGGACAAGCTGGTGAATGAGAGGCTCATCAGCATGGCCTACGGACAGATCGGTGCGCCAAGCCCCGGGCCTCGGGAGGGAACCCCAACAGGGTTCTTTTCCCAGCTTTCAGAGGAATGAGCCCCAAGCAAAATTCCAGGACAGAGGCCAGCTACCCAAGGGTCAGGGACCTCCATCTCTGGCCCTGAGGGGCTGTGCCCCTTCTGCTTCCTGCTCTGACCCTGCCCCTGCCTTTGGCCCTCTACCCACAGGGATGATCCAGGCACTGGGTGGCTTCTTCACCTACTTTGTGATCCTGGCAGAGAACGGTTTCCTGCCATCACGGCTACTGGGAATCCGCCTCGACTGGGATGACCGGACCATGAATGATCTGGAGGACAGCTATGGACAGGAGTGGGTGAGTGGTGCTGTGTAAACACAGCGCACATGTGTGAAGGTACGGGAAGCTGAATGCCTGGCAGGAGTGGCCAGTGGTGGCCAACTGGGACTGGGGCTAGGGGTGGATCAGGAGAAACCATGCTACCTTCTGGTCCTACCCTTTCCTCCGACACTCTCATCTGTCTCTGCCCACCCTCCCTCCAGACCTATGAGCAGCGGAAGGTGGTGGAGTTCACGTGCCACACGGCATTCTTTGCCAGCATCGTGGTGGTGCAGTGGGCTGACCTCATCATCTGCAAGACCCGCCGCAACTCAGTCTTCCAGCAGGGCATGAAGTGAGTGCCCACCCCCATGGCACCTACCCACCCAGGCTCTGGGCACACTCACCAACCCACACAGGCCAAGCTTCCAACTCAGCCCTGGACCAGAGCTGTAAGGAGGGCATCAGATTTTAATCTTCCATCTGTATATCCATAGATAGGTTTCATATAGAAGAGAGAAGCCATGCTTCAGGCTCCTAATTTTGCATTTTGTTATTGTCTCTCTCCACCTTTCTTCTCTCCTTCTCTCCCTCCCTTCTTTCCCCCATCTCCTACTTGAGTGCCACCTGCTCCTATCCTTTGCCCAGCCCTAAATCCAGTGTCTTCTGTGCCCACCCCTCCCCTGGCCTTCCGCAGGCAGTCTAGTTTATAGCACTTGCACTGTGGTTCTGGAGGCCACGTGCTGCCGAGGGTCGGGTTCAGCGCTTCTTGCAGTGTGAGTTCCAGCGTGCCAGGCACTGTGCTAAGTGCCTAACACATTGTTTAGCCCCACGATAGCTCTATGAGGTGGGTATTACTGTTTACATTTCATGGATAAGAGGCCCCAAACAGGTTAAATGATGTGCCCAAGGTCACCAAGATGGTAAGGGTTCACCAGATCTGTCTCTAAAACCCAGCCCTGGCTACTACCCAACATTTCTGTGCTCACACCATCTGGCACTGTTTGGAACTCAGTAATGACTGTGATTCTATTATGGGTGGTGGTTGAGCGCTGAAGGTTTCATGCTGGTTCCTTTTATTTTCTCCTACCATAAACAATGGCCACAATTCCTCACATGAGGTTGTTACAGTTTCTTAGTTTGGGGCTGGGGAGGGTGGGGAGAAGATGCCAAAGTGAAGTTAATAACACTTAAGATCCAAGGGAGAATAAAGTGAAAAGCCTGTTAGATAAATAAAGGTAACATGAAGGAAGGAGATTCCAGTAAGCTAAAAATACTAATGGAAAAAAAATGCAATTTGAAGAGAACAAGGAGCAGAGAGTCTAAGAAATTGGGTATAATTCTGGGGCCTGGGACTTGCTATGCACTGCAGGGATGACACACGAAGGTGGGAACATGGCCATAGTGGCTGCATCCAGCCCATCTTAGAGGCAAATGGGAAAAATGGCAAATGAAAATCAGGCTGGGTACAGAGGAAGAGTACTAATACCACCACAGGCCTCACCTTAGGTCCCTGGGCCACTGGGGATCCTCAGAGATGCTATTTGCCTTATTTTGAAAAGCTTTATGAAAATAAAGCACTCACCTATGCGAAGGCAACCAGGCTTACTAATGTGTCATTCTTAGGCAAAAGCCAAGAGCGCATATCATGACGTGGTGATCGGATGCTGATTCACAGTTCTGTCTGGAAGCCATGGATAGTTCTAATTAATTTTAAATGGGGAAATGTATTCAATACTTA
CACTCCCCTGCCCACAGACGCACACACACATGCCCTTATTTCGGTTGGGATCTGCCATCCCCAGACATCTCGCTATCTAGCTTTCTCTTACTTTGGGAGAGGAACAGGAGGGGGATAAACCCTTAATACTACTTTCCTGTTGTCTCCTCTCCTTCCCACTAGGTGATCATGGTAACCGGGGATCACCCTATCACAGCCAAGGCCATTGCCAAAGGCGTGGGCATCATATCAGAGGGTAACGAGACTGTGGAGGACATTGCAGCCCGGCTCAACATTCCCATGAGTCAAGTCAACCCCAGGTGAGGCCTCTGCAGGAAGCCCCTGTGCCCTAATCAACACGTCCTCTTGCACAGAAGGCTTGGGTGTCCCCTGGGAGTATTTGGATAGCATTTCTGGGACCTTTATAGGCCTTACCTCTGACACTATTGTGACTGGTTCCTCAGCCCTGAGCTTGTATCCAGGCTGTGCCACTGAATACCCATGTAACCTTGGAGATGTCACATTCCCTTCCTGAGCCTCCATTTTCTCACCACAAAATTAGGATGCCATCTCCACTGCTGTAGGAGTGGGATGTGAGTAAAGAAACTAGCCCAGGGCCTAGCAAACTGCACTTACAACTGCGATGATCCCATGGTGAGGATTTAGACTCACATTCTCAAAGAGAAATGGGGGAAGTGAGTACTGAGGAGAGGAGAACTGAAGCAACAGGGGAAGCAGGCTCAGCAGGGAGCCTGCAGGCTGCGGTGGTGAAGAGAGGCAGGGGGCAGGAGGGGCTGGTACAGGTGCCAGGGGTCAGCTGTCTCTGTCCCCACCCACCCTCCAGAGAAGCCAAGGCATGCGTGGTGCACGGCTCTGACCTGAAGGACATGACATCGGAGCAGCTCGATGAGATCCTCAAGAACCACACAGAGATCGTCTTTGCTCGAACGTCTCCCCAGCAGAAGCTCATCATTGTGGAGGGATGTCAGAGGCAGGTGAGCACAGCCACGGGAGGCAGATGACAGGCAGGGACCGGGGAGGCAGGGACAGGGCCAAGACAAGCATGGAGTGAGAGGCGAGGAGCCAGGCTTGGGAAGGGGTTTCGTCCTCAAGTGTGGCCGTCTTCCCTCCAGGGAGCCATTGTGGCCGTGACGGGTGACGGGGTGAACGACTCCCCTGCATTGAAGAAGGCTGACATTGGCATTGCCATGGGCATCTCTGGCTCTGACGTCTCTAAGCAGGCAGCCGACATGATCCTGCTGGATGACAACTTTGCCTCCATCGTCACGGGGGTGGAGGAGGGTGAGGAGGCTGCATGGGTTGGGATGGTTTGCAGGATACTGAAGCCGGCACCTCTGTTCCCTGTCCCTTTACCCCAGTTGAAGAATCATTCCACAACTCTAGGCAGCCCAGCCCACTTTAGCTTCCCTTGAACACAAAATCTTCCTCTCTTGGGAAGACAGGCAGCCATGCTTCAGGGGCTGGGGGTGGGGAAGAGTCCCTCTGACCTCCCTGATGCCCTCAGAATCTCCCCACAGGCCGCCTGATCTTTGACAACTTGAAGAAATCCATCGCCTACACCCTGACCAGCAACATCCCCGAGATCACCCCCTTCCTGCTGTTCATCATTGCCAACATCCCCCTACCTCTGGGCACTGTGACCATCCTTTGCATTGACCTGGGCACAGATATGGTGAGCGCAGGAGGTGGAGGAGGGGACAGGCAAGGCAATCGTGATGGCACAGTGGCAGGGAGGAGAGGTGCACTGGGGCAGTGGCCCCAGCTGTGGGGGTTACAGGAGACAGGCACAGGCCTGGAAGACAATGGGGTCTGAATACACGCTTTTTTAACTGTGTCAACGATCGTCACTGTCGAAGATCAATTGCTTCTGTCATCTCCTACGTCCCTTCAAATGCCCTCCCTGCCCCATTTCCTACCCCACACAGGTCCCTGCCATCTCCTTGGCCTATGAGGCAGCTGAGAGTGATATCATGAAGCGGCAGCCACGAAACTCCCAGACGGACAAGCTGGTGAATGAGAGGCTCATCAGCATGGCCTACGGACAGATCAGTGCGCCAAGCCCCGGGCCTCGGGAGGGAACCCCAACAGGGTTCTTTTCCCAGCTTTCAGAGGAATGAGCCCCAAGCAAAATTCCAGGACAGAGGCCAGCTACCCAAGGGTCAGGGACCTCCATCTCTGGCCCTGAGGGGCTGTGCCCCTTCTGCTTCCTGCTCTGACCCTGCCCCTGCCTTTGGCCCTCTACCCACAGGGATGATCCAGGCACTGGGTGGCTTCTTCACCTACTTTGTGATCCTGGCAGAGAACGGTTTCCTGCCATCACGGCTACTGGGAATCCGCCTCGACTGGGATGACCGGACCATGAATGATCTGGAGGACAGCTATGGACAGGAGTGGGTGAGTGGTGCTGTGTAAACACAGCGCACATGTGTGAAGGTACGGGAAGCTGAATGCCTGGCAGGAGTGGCCAGTGGTGGCCAACTGGGACTGGGGCTAGGGGTGGATCAGGAGAAACCATGCTACCTTCTGGTCCTACCCTTTCCTCCGACACTCTCATCTGTCTCTGCCCACCCTCCCTCCAGACCTATGAGCAGCGGAAGGTGGTGGAGTTCACGTGCCACACGGCATTCTTTGCCAGCATCGTGGTGGTGCAGTGGGCTGACCTCATCATCTGCAAGACCCGCCGCAACTCAGTCTTCCAGCAGGGCATGAAGTGAGTGCCCACCCCCATGGCACCTACCCACCCAGGCTCTGGGCACACTCACCAACCCACACAGGCCAAGCTTCCAACTCAGCCCTGGACCAGAGCTGTAAGGAGGGCATCAGATTTTAATCTTCCATCTGTATATCCATAGATAGGTTTCATATAGAAGAGAGAAGCCATGCTTCAGGCTCCTAATTTTGCATTTTGTTATTGTCTCTCTCCACCTTTCTTCTCTCCTTCTCTCCCTCCCTTCTTTCCCCCATCTCCTACTTGAGTGCCACCTGCTCCTATCCTTTGCCCAGCCCTAAATCCAGTGTCTTCTGTGCCCACCCCTCCCCTGGCCTTCCGCAGGCAGTCTAGTTTATAGCACTTGCACTGTGGTTCTGGAGGCCACGTGCTGCCGAGGGTCGGGTTCAGCGCTTCTTGCAGTGTGAGTTCCAGCGTGCCAGGCACTGTGCTAAGTGCCTAACACATTGTTTAGCCCCACGATAGCTCTATGAGGTGGGTATTACTGTTTACATTTCATGGATAAGAGGCCCCAAACAGGTTAAATGATGTGCCCAAGGTCACCAAGATGGTAAGGGTTCACCAGATCTGTCTCTAAAACCCAGCCCTGGCTACTACCCAACATTTCTGTGCTCACACCATCTGGCACTGTTTGGAACTCAGTAATGACTGTGATTCTATTATGGGTGGTGGTTGAGCGCTGAAGGTTTCATGCTGGTTCCTTTTATTTTCTCCTACCATAAACAATGGCCACAATTCCTCACATGAGGTTGTTACAGTTTCTTAGTTTGGGGCTGGGGAGGGTGGGGAGAAGATGCCAAAGTGAAGTTAATAACACTTAAGATCCAAGGGAGAATAAAGTGAAAAGCCTGTTAGATAAATAAAGGTAACATGAAGGAAGGAGATTCCAGTAAGCTAAAAATACTAATGGAAAAAAAATGCAATTTGAAGAGAACAAGGAGCAGAGAGTCTAAGAAATTGGGTATAATTCTGGGGCCTGGGACTTGCTATGCACTGCAGGGATGACACACGAAGGTGGGAACATGGCCATAGTGGCTGCATCCAGCCCATCTTAGAGGCAAATGGGAAAAATGGCAAATGAAAATCAGGCTGGGTACAGAGGAAGAGTACTAATACCACCACAGGCCTCACCTTAGGTCCCTGGGCCACTGGGGATCCTCAGAGATGCTATTTGCCTTATTTTGAAAAGCTTTATGAAAATAAAGCACTCACCTATGCGAAGGCAACCAGGCTTACTAATGTGTCATTCTTAGGCAAAAGCCAAGAGCGCATATCATGACGTGGTGATCGGATGCTGATTCACAGTTCTGTCTGGAAGCCATGGATAGTTCTAATTAATTTTAAATGGGGAAATGTATTCAATACTTA
Task1_train_1963
Given this context: Chromosome 1, gene ATP1A2 (ATPase Na+/K+ transporting subunit alpha 2) — does this variant present pathogenic behavior, and if so, what disease does it relate to?
Pathogenic; Migraine, familial hemiplegic, 2
CCAGGTGAGGCCTCTGCAGGAAGCCCCTGTGCCCTAATCAACACGTCCTCTTGCACAGAAGGCTTGGGTGTCCCCTGGGAGTATTTGGATAGCATTTCTGGGACCTTTATAGGCCTTACCTCTGACACTATTGTGACTGGTTCCTCAGCCCTGAGCTTGTATCCAGGCTGTGCCACTGAATACCCATGTAACCTTGGAGATGTCACATTCCCTTCCTGAGCCTCCATTTTCTCACCACAAAATTAGGATGCCATCTCCACTGCTGTAGGAGTGGGATGTGAGTAAAGAAACTAGCCCAGGGCCTAGCAAACTGCACTTACAACTGCGATGATCCCATGGTGAGGATTTAGACTCACATTCTCAAAGAGAAATGGGGGAAGTGAGTACTGAGGAGAGGAGAACTGAAGCAACAGGGGAAGCAGGCTCAGCAGGGAGCCTGCAGGCTGCGGTGGTGAAGAGAGGCAGGGGGCAGGAGGGGCTGGTACAGGTGCCAGGGGTCAGCTGTCTCTGTCCCCACCCACCCTCCAGAGAAGCCAAGGCATGCGTGGTGCACGGCTCTGACCTGAAGGACATGACATCGGAGCAGCTCGATGAGATCCTCAAGAACCACACAGAGATCGTCTTTGCTCGAACGTCTCCCCAGCAGAAGCTCATCATTGTGGAGGGATGTCAGAGGCAGGTGAGCACAGCCACGGGAGGCAGATGACAGGCAGGGACCGGGGAGGCAGGGACAGGGCCAAGACAAGCATGGAGTGAGAGGCGAGGAGCCAGGCTTGGGAAGGGGTTTCGTCCTCAAGTGTGGCCGTCTTCCCTCCAGGGAGCCATTGTGGCCGTGACGGGTGACGGGGTGAACGACTCCCCTGCATTGAAGAAGGCTGACATTGGCATTGCCATGGGCATCTCTGGCTCTGACGTCTCTAAGCAGGCAGCCGACATGATCCTGCTGGATGACAACTTTGCCTCCATCGTCACGGGGGTGGAGGAGGGTGAGGAGGCTGCATGGGTTGGGATGGTTTGCAGGATACTGAAGCCGGCACCTCTGTTCCCTGTCCCTTTACCCCAGTTGAAGAATCATTCCACAACTCTAGGCAGCCCAGCCCACTTTAGCTTCCCTTGAACACAAAATCTTCCTCTCTTGGGAAGACAGGCAGCCATGCTTCAGGGGCTGGGGGTGGGGAAGAGTCCCTCTGACCTCCCTGATGCCCTCAGAATCTCCCCACAGGCCGCCTGATCTTTGACAACTTGAAGAAATCCATCGCCTACACCCTGACCAGCAACATCCCCGAGATCACCCCCTTCCTGCTGTTCATCATTGCCAACATCCCCCTACCTCTGGGCACTGTGACCATCCTTTGCATTGACCTGGGCACAGATATGGTGAGCGCAGGAGGTGGAGGAGGGGACAGGCAAGGCAATCGTGATGGCACAGTGGCAGGGAGGAGAGGTGCACTGGGGCAGTGGCCCCAGCTGTGGGGGTTACAGGAGACAGGCACAGGCCTGGAAGACAATGGGGTCTGAATACACGCTTTTTTAACTGTGTCAACGATCGTCACTGTCGAAGATCAATTGCTTCTGTCATCTCCTACGTCCCTTCAAATGCCCTCCCTGCCCCATTTCCTACCCCACACAGGTCCCTGCCATCTCCTTGGCCTATGAGGCAGCTGAGAGTGATATCATGAAGCGGCAGCCACGAAACTCCCAGACGGACAAGCTGGTGAATGAGAGGCTCATCAGCATGGCCTACGGACAGATCGGTGCGCCAAGCCCCGGGCCTCGGGAGGGAACCCCAACAGGGTTCTTTTCCCAGCTTTCAGAGGAATGAGCCCCAAGCAAAATTCCAGGACAGAGGCCAGCTACCCAAGGGTCAGGGACCTCCATCTCTGGCCCTGAGGGGCTGTGCCCCTTCTGCTTCCTGCTCTGACCCTGCCCCTGCCTTTGGCCCTCTACCCACAGGGATGATCCAGGCACTGGGTGGCTTCTTCACCTACTTTGTGATCCTGGCAGAGAACGGTTTCCTGCCATCACGGCTACTGGGAATCCGCCTCGACTGGGATGACCGGACCATGAATGATCTGGAGGACAGCTATGGACAGGAGTGGGTGAGTGGTGCTGTGTAAACACAGCGCACATGTGTGAAGGTACGGGAAGCTGAATGCCTGGCAGGAGTGGCCAGTGGTGGCCAACTGGGACTGGGGCTAGGGGTGGATCAGGAGAAACCATGCTACCTTCTGGTCCTACCCTTTCCTCCGACACTCTCATCTGTCTCTGCCCACCCTCCCTCCAGACCTATGAGCAGCGGAAGGTGGTGGAGTTCACGTGCCACACGGCATTCTTTGCCAGCATCGTGGTGGTGCAGTGGGCTGACCTCATCATCTGCAAGACCCGCCGCAACTCAGTCTTCCAGCAGGGCATGAAGTGAGTGCCCACCCCCATGGCACCTACCCACCCAGGCTCTGGGCACACTCACCAACCCACACAGGCCAAGCTTCCAACTCAGCCCTGGACCAGAGCTGTAAGGAGGGCATCAGATTTTAATCTTCCATCTGTATATCCATAGATAGGTTTCATATAGAAGAGAGAAGCCATGCTTCAGGCTCCTAATTTTGCATTTTGTTATTGTCTCTCTCCACCTTTCTTCTCTCCTTCTCTCCCTCCCTTCTTTCCCCCATCTCCTACTTGAGTGCCACCTGCTCCTATCCTTTGCCCAGCCCTAAATCCAGTGTCTTCTGTGCCCACCCCTCCCCTGGCCTTCCGCAGGCAGTCTAGTTTATAGCACTTGCACTGTGGTTCTGGAGGCCACGTGCTGCCGAGGGTCGGGTTCAGCGCTTCTTGCAGTGTGAGTTCCAGCGTGCCAGGCACTGTGCTAAGTGCCTAACACATTGTTTAGCCCCACGATAGCTCTATGAGGTGGGTATTACTGTTTACATTTCATGGATAAGAGGCCCCAAACAGGTTAAATGATGTGCCCAAGGTCACCAAGATGGTAAGGGTTCACCAGATCTGTCTCTAAAACCCAGCCCTGGCTACTACCCAACATTTCTGTGCTCACACCATCTGGCACTGTTTGGAACTCAGTAATGACTGTGATTCTATTATGGGTGGTGGTTGAGCGCTGAAGGTTTCATGCTGGTTCCTTTTATTTTCTCCTACCATAAACAATGGCCACAATTCCTCACATGAGGTTGTTACAGTTTCTTAGTTTGGGGCTGGGGAGGGTGGGGAGAAGATGCCAAAGTGAAGTTAATAACACTTAAGATCCAAGGGAGAATAAAGTGAAAAGCCTGTTAGATAAATAAAGGTAACATGAAGGAAGGAGATTCCAGTAAGCTAAAAATACTAATGGAAAAAAAATGCAATTTGAAGAGAACAAGGAGCAGAGAGTCTAAGAAATTGGGTATAATTCTGGGGCCTGGGACTTGCTATGCACTGCAGGGATGACACACGAAGGTGGGAACATGGCCATAGTGGCTGCATCCAGCCCATCTTAGAGGCAAATGGGAAAAATGGCAAATGAAAATCAGGCTGGGTACAGAGGAAGAGTACTAATACCACCACAGGCCTCACCTTAGGTCCCTGGGCCACTGGGGATCCTCAGAGATGCTATTTGCCTTATTTTGAAAAGCTTTATGAAAATAAAGCACTCACCTATGCGAAGGCAACCAGGCTTACTAATGTGTCATTCTTAGGCAAAAGCCAAGAGCGCATATCATGACGTGGTGATCGGATGCTGATTCACAGTTCTGTCTGGAAGCCATGGATAGTTCTAATTAATTTTAAATGGGGAAATGTATTCAATACTTATTCACAAATGTAGCTTGAGAGACAAACAATTAAATGTGGCCTTTACAGAAGAAAATAAGGAGGTCCTTAGTGAGTGAAAATTTGGAAATCACTGGCTTGAACCAAAAAGAGGTACCTTGTGTAAGAATACAAAAGATGGAGTAGCCGGGGACAGTGGTTCACACCTGTAATCCCAGCACTTTGGGAGGCTGAGACAGGAGAATCAATTGAGCCCAAGAGTTTGGTACTAGCCTGGGCACATGGTGAAACTCTATCTCTACAAAAAATATAAAAATTAGCAGGGCGTGGTGGCACA
CCAGGTGAGGCCTCTGCAGGAAGCCCCTGTGCCCTAATCAACACGTCCTCTTGCACAGAAGGCTTGGGTGTCCCCTGGGAGTATTTGGATAGCATTTCTGGGACCTTTATAGGCCTTACCTCTGACACTATTGTGACTGGTTCCTCAGCCCTGAGCTTGTATCCAGGCTGTGCCACTGAATACCCATGTAACCTTGGAGATGTCACATTCCCTTCCTGAGCCTCCATTTTCTCACCACAAAATTAGGATGCCATCTCCACTGCTGTAGGAGTGGGATGTGAGTAAAGAAACTAGCCCAGGGCCTAGCAAACTGCACTTACAACTGCGATGATCCCATGGTGAGGATTTAGACTCACATTCTCAAAGAGAAATGGGGGAAGTGAGTACTGAGGAGAGGAGAACTGAAGCAACAGGGGAAGCAGGCTCAGCAGGGAGCCTGCAGGCTGCGGTGGTGAAGAGAGGCAGGGGGCAGGAGGGGCTGGTACAGGTGCCAGGGGTCAGCTGTCTCTGTCCCCACCCACCCTCCAGAGAAGCCAAGGCATGCGTGGTGCACGGCTCTGACCTGAAGGACATGACATCGGAGCAGCTCGATGAGATCCTCAAGAACCACACAGAGATCGTCTTTGCTCGAACGTCTCCCCAGCAGAAGCTCATCATTGTGGAGGGATGTCAGAGGCAGGTGAGCACAGCCACGGGAGGCAGATGACAGGCAGGGACCGGGGAGGCAGGGACAGGGCCAAGACAAGCATGGAGTGAGAGGCGAGGAGCCAGGCTTGGGAAGGGGTTTCGTCCTCAAGTGTGGCCGTCTTCCCTCCAGGGAGCCATTGTGGCCGTGACGGGTGACGGGGTGAACGACTCCCCTGCATTGAAGAAGGCTGACATTGGCATTGCCATGGGCATCTCTGGCTCTGACGTCTCTAAGCAGGCAGCCGACATGATCCTGCTGGATGACAACTTTGCCTCCATCGTCACGGGGGTGGAGGAGGGTGAGGAGGCTGCATGGGTTGGGATGGTTTGCAGGATACTGAAGCCGGCACCTCTGTTCCCTGTCCCTTTACCCCAGTTGAAGAATCATTCCACAACTCTAGGCAGCCCAGCCCACTTTAGCTTCCCTTGAACACAAAATCTTCCTCTCTTGGGAAGACAGGCAGCCATGCTTCAGGGGCTGGGGGTGGGGAAGAGTCCCTCTGACCTCCCTGATGCCCTCAGAATCTCCCCACAGGCCGCCTGATCTTTGACAACTTGAAGAAATCCATCGCCTACACCCTGACCAGCAACATCCCCGAGATCACCCCCTTCCTGCTGTTCATCATTGCCAACATCCCCCTACCTCTGGGCACTGTGACCATCCTTTGCATTGACCTGGGCACAGATATGGTGAGCGCAGGAGGTGGAGGAGGGGACAGGCAAGGCAATCGTGATGGCACAGTGGCAGGGAGGAGAGGTGCACTGGGGCAGTGGCCCCAGCTGTGGGGGTTACAGGAGACAGGCACAGGCCTGGAAGACAATGGGGTCTGAATACACGCTTTTTTAACTGTGTCAACGATCGTCACTGTCGAAGATCAATTGCTTCTGTCATCTCCTACGTCCCTTCAAATGCCCTCCCTGCCCCATTTCCTACCCCACACAGGTCCCTGCCATCTCCTTGGCCTATGAGGCAGCTGAGAGTGATATCATGAAGCGGCAGCCACGAAACTCCCAGACGGACAAGCTGGTGAATGAGAGGCTCATCAGCATGGCCTACGGACAGATCGGTGCGCCAAGCCCCGGGCCTCGGGAGGGAACCCCAACAGGGTTCTTTTCCCAGCTTTCAGAGGAATGAGCCCCAAGCAAAATTCCAGGACAGAGGCCAGCTACCCAAGGGTCAGGGACCTCCATCTCTGGCCCTGAGGGGCTGTGCCCCTTCTGCTTCCTGCTCTGACCCTGCCCCTGCCTTTGGCCCTCTACCCACAGGGATGATCCAGGCACTGGGTGGCTTCTTCACCTACTTTGTGATCCTGGCAGAGAACGGTTTCCTGCCATCACGGCTACTGGGAATCCGCCTCGACCGGGATGACCGGACCATGAATGATCTGGAGGACAGCTATGGACAGGAGTGGGTGAGTGGTGCTGTGTAAACACAGCGCACATGTGTGAAGGTACGGGAAGCTGAATGCCTGGCAGGAGTGGCCAGTGGTGGCCAACTGGGACTGGGGCTAGGGGTGGATCAGGAGAAACCATGCTACCTTCTGGTCCTACCCTTTCCTCCGACACTCTCATCTGTCTCTGCCCACCCTCCCTCCAGACCTATGAGCAGCGGAAGGTGGTGGAGTTCACGTGCCACACGGCATTCTTTGCCAGCATCGTGGTGGTGCAGTGGGCTGACCTCATCATCTGCAAGACCCGCCGCAACTCAGTCTTCCAGCAGGGCATGAAGTGAGTGCCCACCCCCATGGCACCTACCCACCCAGGCTCTGGGCACACTCACCAACCCACACAGGCCAAGCTTCCAACTCAGCCCTGGACCAGAGCTGTAAGGAGGGCATCAGATTTTAATCTTCCATCTGTATATCCATAGATAGGTTTCATATAGAAGAGAGAAGCCATGCTTCAGGCTCCTAATTTTGCATTTTGTTATTGTCTCTCTCCACCTTTCTTCTCTCCTTCTCTCCCTCCCTTCTTTCCCCCATCTCCTACTTGAGTGCCACCTGCTCCTATCCTTTGCCCAGCCCTAAATCCAGTGTCTTCTGTGCCCACCCCTCCCCTGGCCTTCCGCAGGCAGTCTAGTTTATAGCACTTGCACTGTGGTTCTGGAGGCCACGTGCTGCCGAGGGTCGGGTTCAGCGCTTCTTGCAGTGTGAGTTCCAGCGTGCCAGGCACTGTGCTAAGTGCCTAACACATTGTTTAGCCCCACGATAGCTCTATGAGGTGGGTATTACTGTTTACATTTCATGGATAAGAGGCCCCAAACAGGTTAAATGATGTGCCCAAGGTCACCAAGATGGTAAGGGTTCACCAGATCTGTCTCTAAAACCCAGCCCTGGCTACTACCCAACATTTCTGTGCTCACACCATCTGGCACTGTTTGGAACTCAGTAATGACTGTGATTCTATTATGGGTGGTGGTTGAGCGCTGAAGGTTTCATGCTGGTTCCTTTTATTTTCTCCTACCATAAACAATGGCCACAATTCCTCACATGAGGTTGTTACAGTTTCTTAGTTTGGGGCTGGGGAGGGTGGGGAGAAGATGCCAAAGTGAAGTTAATAACACTTAAGATCCAAGGGAGAATAAAGTGAAAAGCCTGTTAGATAAATAAAGGTAACATGAAGGAAGGAGATTCCAGTAAGCTAAAAATACTAATGGAAAAAAAATGCAATTTGAAGAGAACAAGGAGCAGAGAGTCTAAGAAATTGGGTATAATTCTGGGGCCTGGGACTTGCTATGCACTGCAGGGATGACACACGAAGGTGGGAACATGGCCATAGTGGCTGCATCCAGCCCATCTTAGAGGCAAATGGGAAAAATGGCAAATGAAAATCAGGCTGGGTACAGAGGAAGAGTACTAATACCACCACAGGCCTCACCTTAGGTCCCTGGGCCACTGGGGATCCTCAGAGATGCTATTTGCCTTATTTTGAAAAGCTTTATGAAAATAAAGCACTCACCTATGCGAAGGCAACCAGGCTTACTAATGTGTCATTCTTAGGCAAAAGCCAAGAGCGCATATCATGACGTGGTGATCGGATGCTGATTCACAGTTCTGTCTGGAAGCCATGGATAGTTCTAATTAATTTTAAATGGGGAAATGTATTCAATACTTATTCACAAATGTAGCTTGAGAGACAAACAATTAAATGTGGCCTTTACAGAAGAAAATAAGGAGGTCCTTAGTGAGTGAAAATTTGGAAATCACTGGCTTGAACCAAAAAGAGGTACCTTGTGTAAGAATACAAAAGATGGAGTAGCCGGGGACAGTGGTTCACACCTGTAATCCCAGCACTTTGGGAGGCTGAGACAGGAGAATCAATTGAGCCCAAGAGTTTGGTACTAGCCTGGGCACATGGTGAAACTCTATCTCTACAAAAAATATAAAAATTAGCAGGGCGTGGTGGCACA
Task1_train_1964
A variant on Chromosome 1 in gene ATP1A2 (ATPase Na+/K+ transporting subunit alpha 2) has been observed. Is this a neutral mutation, or does it result in a disease? If so, which one?
Pathogenic; Familial hemiplegic migraine
CTCAGTAATGACTGTGATTCTATTATGGGTGGTGGTTGAGCGCTGAAGGTTTCATGCTGGTTCCTTTTATTTTCTCCTACCATAAACAATGGCCACAATTCCTCACATGAGGTTGTTACAGTTTCTTAGTTTGGGGCTGGGGAGGGTGGGGAGAAGATGCCAAAGTGAAGTTAATAACACTTAAGATCCAAGGGAGAATAAAGTGAAAAGCCTGTTAGATAAATAAAGGTAACATGAAGGAAGGAGATTCCAGTAAGCTAAAAATACTAATGGAAAAAAAATGCAATTTGAAGAGAACAAGGAGCAGAGAGTCTAAGAAATTGGGTATAATTCTGGGGCCTGGGACTTGCTATGCACTGCAGGGATGACACACGAAGGTGGGAACATGGCCATAGTGGCTGCATCCAGCCCATCTTAGAGGCAAATGGGAAAAATGGCAAATGAAAATCAGGCTGGGTACAGAGGAAGAGTACTAATACCACCACAGGCCTCACCTTAGGTCCCTGGGCCACTGGGGATCCTCAGAGATGCTATTTGCCTTATTTTGAAAAGCTTTATGAAAATAAAGCACTCACCTATGCGAAGGCAACCAGGCTTACTAATGTGTCATTCTTAGGCAAAAGCCAAGAGCGCATATCATGACGTGGTGATCGGATGCTGATTCACAGTTCTGTCTGGAAGCCATGGATAGTTCTAATTAATTTTAAATGGGGAAATGTATTCAATACTTATTCACAAATGTAGCTTGAGAGACAAACAATTAAATGTGGCCTTTACAGAAGAAAATAAGGAGGTCCTTAGTGAGTGAAAATTTGGAAATCACTGGCTTGAACCAAAAAGAGGTACCTTGTGTAAGAATACAAAAGATGGAGTAGCCGGGGACAGTGGTTCACACCTGTAATCCCAGCACTTTGGGAGGCTGAGACAGGAGAATCAATTGAGCCCAAGAGTTTGGTACTAGCCTGGGCACATGGTGAAACTCTATCTCTACAAAAAATATAAAAATTAGCAGGGCGTGGTGGCACACACCTGTAATTCCAGCTACTGGAGAGGCTGAGGCAAGAGGGTCACTTGAGCCCAAGAGGTGGAGGTTACAGTGAGCTGTGATCGTCCAGCCTGGGCAACAGAGTGAGACTCTGTCTCAGAAAAAAAAAGTGGAGTAATAATGTGACTGAACATTTTCCAGGTCTGTCACTGAACATTTCAGTGACAGAACATTGCAGAGCTTTTCACGTGTTATCTCCCTTAATTTTCCCAGCAACCCTATGATAAAAAGGTAAAATCTCCATTTGATAGAGAAGGAACGTGAGGCTCAGAGAAATTCAACATTGCCTGCAACCCAAAGCTAGTCAATGGCAGAACTGGGAATAGACACCACCTGTCTGACTGCAGAAACTGCCCTGAGAACCTCCTTATTCTATCCTGCTTTTCAATTCTGATAAAGTGAACATATATTAACCACTTATTATGCAGTGATCCCCTTTACATTCTCTGAATTAAATATCTATAATGAAACCACCACCAGGAACTGTGGGAGATGCTGAGACGGTAGAAGACATACATGGGCCCTGCACTGAAGGAGCTTTCAAGCATCTTGCTGGGGAGACACACTTTCATGGGCCCTGTGCCTGGAGCAATAACAAGATCATGAGACAGGCCCCATGTTGACCACCGTGTCTCCAGTACAGAACACGTCACCCAACACCTAGAAACAATTATTTAATGAATGAATATACGTGCAATAGACAACATTCGGACGTAAACTCAGTAAGCAGAAAAACAAATAACATCTTCCTTTGGTTACATAAAGCATGAGAAGAGGCTGTTGGAAGAAGACATGCGACTATGTCGTTTAGAATTCTCTCTCCTCTTTCCCTTGCACCCCAGGGGTATCCCAGGATCTCTGCCTCCATGATCCCCCTTCACCTGCCACCTCCTTTCTTTGCCTTTCAGGAACAAGATCCTGATTTTTGGGCTCCTGGAGGAGACGGCGTTGGCTGCCTTTCTCTCTTACTGCCCAGGCATGGGTGTAGCCCTCCGCATGTACCCGCTCAAGTGAGTGTCTCTTTCGGGCGGCCTGAGTAGTCATACGGGGGGCCTTCAGCCCCCTCCAGGATCCAAGTTCTGATCGCTTTGAATGCTCCTTTATGTGACAGCCACCAAGCCAACCTCTGATGCTGCTGACACTCTCCTCCATTGCTTTCAGAGTCACCTGGTGGTTCTGCGCCTTCCCCTACAGCCTCCTCATCTTCATCTATGATGAGGTCCGAAAGCTCATCCTGCGGCGGTATCCTGGTGGTAAGCCCCTCCACATTCCCCCCAGCAAAGTGCAAGCCCCACCACCAGCTCCTCCCTCCAGGACCACACGCAGACTCCACTCCCACTACTGGTTCCTGCTTCTGTTCCTCAACACCCTCAGATCCTGGGGTCCCAGGTCCCAGGAGCCCTGACTCTTTCGAACCTGTTGTCTCTGCCCTCTTCCCATCAGATTCTAAACCCCGCCTAACTCACAGTTGGTCTCCGAGGCCCTCCACCTTCCACCTGAAACCACAGAACATCAGAATTAGAAGGGCCTTTCCAGGTCACCTAGTCCCACGTCCATATTTTACAGATAGAGGAGGCTCAGAGGTGAATCTGTTCAGGGTCGTAAAGCAAAGAATAGCAGGACTGGTACTAGAACCCAGGCCTCCTGATCCCCACTCATCAACCGACAAGTTATTGTTTTTCCTACAAGCGTTTTTTAATCACTTAGTAGAGGTTAAAATATGATGGCTTACAAACCAAATACTGTCCAGGAATACTGTTTGGTTTGACCTGTGCCATATTTTGTGTGTGTGGGGGGAGGAGGGTGGATTAATTGGTCCGATATAGAAAATTTAGGGTCTTTCACATAAAATCTGAATTCGACTTCTCCTGAAGATCAGAAGAGCTGTTAATCCCATGTCCACATCTCTGCACAGCAAGAATGGACAGCTGCTCCCTTAGACTCTCGTTCGTCACCTGAAGAGGCCCTGTGGGCGTTTGCATTTTCACCCTCGACCTATTCTGCCCCAGCCTCCAATGTGCTAAATACAAGTCTCCCCTAAAGGCAGGTTCACCCTCCCTTCCTTTAACCTATGGCCCCAGCTCACTGGACCTCCTTCTCCTCCCTTTCACCTTCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAACCAGGAGTGCAGTGCAGTGGCACGATCTCGGCTCACTGCAAGCTCCGCCTCCTGGGTTCAAGCAATTCTCTTGCCTCAGCCTCCAGAGTAGCTGGGATTGCAGGCGCATGCCACTATGCCCGACTAATTTTTTGTATTTTTAGTACAGACAGGGTTTCACTGGGTTAGCCAGGAGTCTTGATCTCCGCCTGCCTCAGCCTCCCAGTATGCTGGGATTACAGGCATGAGCCACTGCACCCAGCCTCCTTCCACCTTCCTAAGCCACTTCCCCCAGTGCCCTTCACCAGGCTTCTCCTTCCACCTGGCTTCAGCGACCCAAGCCCCTAGGAAATTGATCTCTTGCCTCCTTTTAAGCTCATGCTGCAATCTCCACTCCCAATCTCTCTAACAGGCTGGGTGGAGAAGGAGACATACTACTGACCCCATTGGAAGAAGAACCAGGCATGGAAAGATGGGGAGCTCTGGAGGTGTTGTGGGGATGGTGATGGAGAGGGATGGAAATAACGGGTGGCATTGGGTGGCAACATTTGGGGAGAGATAATGAGGCAACTCAGCAGGCTAAGTTGCGGGGTATATAAATTGGGGTGATGACCCCATAGACCTAACTGTGAACAATCAGATTAGACACTATGTGTTAGAGTCCCCCCGACCAGATCCTTTTCCATCCCACTCCACTATGTTGTCTATTTTTTCTGAGGAATTAAGGGTTACCCCACCCTGCCCACTCCCATCCCTTCAACCCCACTTCCTACTGTAATAGATCAGCATCCAAAAGCAGGAACCCATCTAAACCAGAAGGAAGCCCTCTCAGATCACCCCAGCCTCACTCCATTTCCCACTTCCACCCCCGTTAGCTTCCTGCAGGACTCTATCCCTGGCT
CTCAGTAATGACTGTGATTCTATTATGGGTGGTGGTTGAGCGCTGAAGGTTTCATGCTGGTTCCTTTTATTTTCTCCTACCATAAACAATGGCCACAATTCCTCACATGAGGTTGTTACAGTTTCTTAGTTTGGGGCTGGGGAGGGTGGGGAGAAGATGCCAAAGTGAAGTTAATAACACTTAAGATCCAAGGGAGAATAAAGTGAAAAGCCTGTTAGATAAATAAAGGTAACATGAAGGAAGGAGATTCCAGTAAGCTAAAAATACTAATGGAAAAAAAATGCAATTTGAAGAGAACAAGGAGCAGAGAGTCTAAGAAATTGGGTATAATTCTGGGGCCTGGGACTTGCTATGCACTGCAGGGATGACACACGAAGGTGGGAACATGGCCATAGTGGCTGCATCCAGCCCATCTTAGAGGCAAATGGGAAAAATGGCAAATGAAAATCAGGCTGGGTACAGAGGAAGAGTACTAATACCACCACAGGCCTCACCTTAGGTCCCTGGGCCACTGGGGATCCTCAGAGATGCTATTTGCCTTATTTTGAAAAGCTTTATGAAAATAAAGCACTCACCTATGCGAAGGCAACCAGGCTTACTAATGTGTCATTCTTAGGCAAAAGCCAAGAGCGCATATCATGACGTGGTGATCGGATGCTGATTCACAGTTCTGTCTGGAAGCCATGGATAGTTCTAATTAATTTTAAATGGGGAAATGTATTCAATACTTATTCACAAATGTAGCTTGAGAGACAAACAATTAAATGTGGCCTTTACAGAAGAAAATAAGGAGGTCCTTAGTGAGTGAAAATTTGGAAATCACTGGCTTGAACCAAAAAGAGGTACCTTGTGTAAGAATACAAAAGATGGAGTAGCCGGGGACAGTGGTTCACACCTGTAATCCCAGCACTTTGGGAGGCTGAGACAGGAGAATCAATTGAGCCCAAGAGTTTGGTACTAGCCTGGGCACATGGTGAAACTCTATCTCTACAAAAAATATAAAAATTAGCAGGGCGTGGTGGCACACACCTGTAATTCCAGCTACTGGAGAGGCTGAGGCAAGAGGGTCACTTGAGCCCAAGAGGTGGAGGTTACAGTGAGCTGTGATCGTCCAGCCTGGGCAACAGAGTGAGACTCTGTCTCAGAAAAAAAAAGTGGAGTAATAATGTGACTGAACATTTTCCAGGTCTGTCACTGAACATTTCAGTGACAGAACATTGCAGAGCTTTTCACGTGTTATCTCCCTTAATTTTCCCAGCAACCCTATGATAAAAAGGTAAAATCTCCATTTGATAGAGAAGGAACGTGAGGCTCAGAGAAATTCAACATTGCCTGCAACCCAAAGCTAGTCAATGGCAGAACTGGGAATAGACACCACCTGTCTGACTGCAGAAACTGCCCTGAGAACCTCCTTATTCTATCCTGCTTTTCAATTCTGATAAAGTGAACATATATTAACCACTTATTATGCAGTGATCCCCTTTACATTCTCTGAATTAAATATCTATAATGAAACCACCACCAGGAACTGTGGGAGATGCTGAGACGGTAGAAGACATACATGGGCCCTGCACTGAAGGAGCTTTCAAGCATCTTGCTGGGGAGACACACTTTCATGGGCCCTGTGCCTGGAGCAATAACAAGATCATGAGACAGGCCCCATGTTGACCACCGTGTCTCCAGTACAGAACACGTCACCCAACACCTAGAAACAATTATTTAATGAATGAATATACGTGCAATAGACAACATTCGGACGTAAACTCAGTAAGCAGAAAAACAAATAACATCTTCCTTTGGTTACATAAAGCATGAGAAGAGGCTGTTGGAAGAAGACATGCGACTATGTCGTTTAGAATTCTCTCTCCTCTTTCCCTTGCACCCCAGGGGTATCCCAGGATCTCTGCCTCCATGATCCCCCTTCACCTGCCACCTCCTTTCTTTGCCTTTCAGGAACAAGATCCTGATTTTTGGGCTCCTGGAGGAGACGGCGTTGGCTGCCTTTCTCTCTTACTGCCCAGGCATGGGTGTAGCCCTCCGCATGTACCTGCTCAAGTGAGTGTCTCTTTCGGGCGGCCTGAGTAGTCATACGGGGGGCCTTCAGCCCCCTCCAGGATCCAAGTTCTGATCGCTTTGAATGCTCCTTTATGTGACAGCCACCAAGCCAACCTCTGATGCTGCTGACACTCTCCTCCATTGCTTTCAGAGTCACCTGGTGGTTCTGCGCCTTCCCCTACAGCCTCCTCATCTTCATCTATGATGAGGTCCGAAAGCTCATCCTGCGGCGGTATCCTGGTGGTAAGCCCCTCCACATTCCCCCCAGCAAAGTGCAAGCCCCACCACCAGCTCCTCCCTCCAGGACCACACGCAGACTCCACTCCCACTACTGGTTCCTGCTTCTGTTCCTCAACACCCTCAGATCCTGGGGTCCCAGGTCCCAGGAGCCCTGACTCTTTCGAACCTGTTGTCTCTGCCCTCTTCCCATCAGATTCTAAACCCCGCCTAACTCACAGTTGGTCTCCGAGGCCCTCCACCTTCCACCTGAAACCACAGAACATCAGAATTAGAAGGGCCTTTCCAGGTCACCTAGTCCCACGTCCATATTTTACAGATAGAGGAGGCTCAGAGGTGAATCTGTTCAGGGTCGTAAAGCAAAGAATAGCAGGACTGGTACTAGAACCCAGGCCTCCTGATCCCCACTCATCAACCGACAAGTTATTGTTTTTCCTACAAGCGTTTTTTAATCACTTAGTAGAGGTTAAAATATGATGGCTTACAAACCAAATACTGTCCAGGAATACTGTTTGGTTTGACCTGTGCCATATTTTGTGTGTGTGGGGGGAGGAGGGTGGATTAATTGGTCCGATATAGAAAATTTAGGGTCTTTCACATAAAATCTGAATTCGACTTCTCCTGAAGATCAGAAGAGCTGTTAATCCCATGTCCACATCTCTGCACAGCAAGAATGGACAGCTGCTCCCTTAGACTCTCGTTCGTCACCTGAAGAGGCCCTGTGGGCGTTTGCATTTTCACCCTCGACCTATTCTGCCCCAGCCTCCAATGTGCTAAATACAAGTCTCCCCTAAAGGCAGGTTCACCCTCCCTTCCTTTAACCTATGGCCCCAGCTCACTGGACCTCCTTCTCCTCCCTTTCACCTTCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAACCAGGAGTGCAGTGCAGTGGCACGATCTCGGCTCACTGCAAGCTCCGCCTCCTGGGTTCAAGCAATTCTCTTGCCTCAGCCTCCAGAGTAGCTGGGATTGCAGGCGCATGCCACTATGCCCGACTAATTTTTTGTATTTTTAGTACAGACAGGGTTTCACTGGGTTAGCCAGGAGTCTTGATCTCCGCCTGCCTCAGCCTCCCAGTATGCTGGGATTACAGGCATGAGCCACTGCACCCAGCCTCCTTCCACCTTCCTAAGCCACTTCCCCCAGTGCCCTTCACCAGGCTTCTCCTTCCACCTGGCTTCAGCGACCCAAGCCCCTAGGAAATTGATCTCTTGCCTCCTTTTAAGCTCATGCTGCAATCTCCACTCCCAATCTCTCTAACAGGCTGGGTGGAGAAGGAGACATACTACTGACCCCATTGGAAGAAGAACCAGGCATGGAAAGATGGGGAGCTCTGGAGGTGTTGTGGGGATGGTGATGGAGAGGGATGGAAATAACGGGTGGCATTGGGTGGCAACATTTGGGGAGAGATAATGAGGCAACTCAGCAGGCTAAGTTGCGGGGTATATAAATTGGGGTGATGACCCCATAGACCTAACTGTGAACAATCAGATTAGACACTATGTGTTAGAGTCCCCCCGACCAGATCCTTTTCCATCCCACTCCACTATGTTGTCTATTTTTTCTGAGGAATTAAGGGTTACCCCACCCTGCCCACTCCCATCCCTTCAACCCCACTTCCTACTGTAATAGATCAGCATCCAAAAGCAGGAACCCATCTAAACCAGAAGGAAGCCCTCTCAGATCACCCCAGCCTCACTCCATTTCCCACTTCCACCCCCGTTAGCTTCCTGCAGGACTCTATCCCTGGCT
Task1_train_1965
Consider a variant on Chromosome 1 in gene ATP1A2 (ATPase Na+/K+ transporting subunit alpha 2). Determine its clinical classification and disease relevance.
Pathogenic; Migraine, familial hemiplegic, 2
CTCAGTAATGACTGTGATTCTATTATGGGTGGTGGTTGAGCGCTGAAGGTTTCATGCTGGTTCCTTTTATTTTCTCCTACCATAAACAATGGCCACAATTCCTCACATGAGGTTGTTACAGTTTCTTAGTTTGGGGCTGGGGAGGGTGGGGAGAAGATGCCAAAGTGAAGTTAATAACACTTAAGATCCAAGGGAGAATAAAGTGAAAAGCCTGTTAGATAAATAAAGGTAACATGAAGGAAGGAGATTCCAGTAAGCTAAAAATACTAATGGAAAAAAAATGCAATTTGAAGAGAACAAGGAGCAGAGAGTCTAAGAAATTGGGTATAATTCTGGGGCCTGGGACTTGCTATGCACTGCAGGGATGACACACGAAGGTGGGAACATGGCCATAGTGGCTGCATCCAGCCCATCTTAGAGGCAAATGGGAAAAATGGCAAATGAAAATCAGGCTGGGTACAGAGGAAGAGTACTAATACCACCACAGGCCTCACCTTAGGTCCCTGGGCCACTGGGGATCCTCAGAGATGCTATTTGCCTTATTTTGAAAAGCTTTATGAAAATAAAGCACTCACCTATGCGAAGGCAACCAGGCTTACTAATGTGTCATTCTTAGGCAAAAGCCAAGAGCGCATATCATGACGTGGTGATCGGATGCTGATTCACAGTTCTGTCTGGAAGCCATGGATAGTTCTAATTAATTTTAAATGGGGAAATGTATTCAATACTTATTCACAAATGTAGCTTGAGAGACAAACAATTAAATGTGGCCTTTACAGAAGAAAATAAGGAGGTCCTTAGTGAGTGAAAATTTGGAAATCACTGGCTTGAACCAAAAAGAGGTACCTTGTGTAAGAATACAAAAGATGGAGTAGCCGGGGACAGTGGTTCACACCTGTAATCCCAGCACTTTGGGAGGCTGAGACAGGAGAATCAATTGAGCCCAAGAGTTTGGTACTAGCCTGGGCACATGGTGAAACTCTATCTCTACAAAAAATATAAAAATTAGCAGGGCGTGGTGGCACACACCTGTAATTCCAGCTACTGGAGAGGCTGAGGCAAGAGGGTCACTTGAGCCCAAGAGGTGGAGGTTACAGTGAGCTGTGATCGTCCAGCCTGGGCAACAGAGTGAGACTCTGTCTCAGAAAAAAAAAGTGGAGTAATAATGTGACTGAACATTTTCCAGGTCTGTCACTGAACATTTCAGTGACAGAACATTGCAGAGCTTTTCACGTGTTATCTCCCTTAATTTTCCCAGCAACCCTATGATAAAAAGGTAAAATCTCCATTTGATAGAGAAGGAACGTGAGGCTCAGAGAAATTCAACATTGCCTGCAACCCAAAGCTAGTCAATGGCAGAACTGGGAATAGACACCACCTGTCTGACTGCAGAAACTGCCCTGAGAACCTCCTTATTCTATCCTGCTTTTCAATTCTGATAAAGTGAACATATATTAACCACTTATTATGCAGTGATCCCCTTTACATTCTCTGAATTAAATATCTATAATGAAACCACCACCAGGAACTGTGGGAGATGCTGAGACGGTAGAAGACATACATGGGCCCTGCACTGAAGGAGCTTTCAAGCATCTTGCTGGGGAGACACACTTTCATGGGCCCTGTGCCTGGAGCAATAACAAGATCATGAGACAGGCCCCATGTTGACCACCGTGTCTCCAGTACAGAACACGTCACCCAACACCTAGAAACAATTATTTAATGAATGAATATACGTGCAATAGACAACATTCGGACGTAAACTCAGTAAGCAGAAAAACAAATAACATCTTCCTTTGGTTACATAAAGCATGAGAAGAGGCTGTTGGAAGAAGACATGCGACTATGTCGTTTAGAATTCTCTCTCCTCTTTCCCTTGCACCCCAGGGGTATCCCAGGATCTCTGCCTCCATGATCCCCCTTCACCTGCCACCTCCTTTCTTTGCCTTTCAGGAACAAGATCCTGATTTTTGGGCTCCTGGAGGAGACGGCGTTGGCTGCCTTTCTCTCTTACTGCCCAGGCATGGGTGTAGCCCTCCGCATGTACCCGCTCAAGTGAGTGTCTCTTTCGGGCGGCCTGAGTAGTCATACGGGGGGCCTTCAGCCCCCTCCAGGATCCAAGTTCTGATCGCTTTGAATGCTCCTTTATGTGACAGCCACCAAGCCAACCTCTGATGCTGCTGACACTCTCCTCCATTGCTTTCAGAGTCACCTGGTGGTTCTGCGCCTTCCCCTACAGCCTCCTCATCTTCATCTATGATGAGGTCCGAAAGCTCATCCTGCGGCGGTATCCTGGTGGTAAGCCCCTCCACATTCCCCCCAGCAAAGTGCAAGCCCCACCACCAGCTCCTCCCTCCAGGACCACACGCAGACTCCACTCCCACTACTGGTTCCTGCTTCTGTTCCTCAACACCCTCAGATCCTGGGGTCCCAGGTCCCAGGAGCCCTGACTCTTTCGAACCTGTTGTCTCTGCCCTCTTCCCATCAGATTCTAAACCCCGCCTAACTCACAGTTGGTCTCCGAGGCCCTCCACCTTCCACCTGAAACCACAGAACATCAGAATTAGAAGGGCCTTTCCAGGTCACCTAGTCCCACGTCCATATTTTACAGATAGAGGAGGCTCAGAGGTGAATCTGTTCAGGGTCGTAAAGCAAAGAATAGCAGGACTGGTACTAGAACCCAGGCCTCCTGATCCCCACTCATCAACCGACAAGTTATTGTTTTTCCTACAAGCGTTTTTTAATCACTTAGTAGAGGTTAAAATATGATGGCTTACAAACCAAATACTGTCCAGGAATACTGTTTGGTTTGACCTGTGCCATATTTTGTGTGTGTGGGGGGAGGAGGGTGGATTAATTGGTCCGATATAGAAAATTTAGGGTCTTTCACATAAAATCTGAATTCGACTTCTCCTGAAGATCAGAAGAGCTGTTAATCCCATGTCCACATCTCTGCACAGCAAGAATGGACAGCTGCTCCCTTAGACTCTCGTTCGTCACCTGAAGAGGCCCTGTGGGCGTTTGCATTTTCACCCTCGACCTATTCTGCCCCAGCCTCCAATGTGCTAAATACAAGTCTCCCCTAAAGGCAGGTTCACCCTCCCTTCCTTTAACCTATGGCCCCAGCTCACTGGACCTCCTTCTCCTCCCTTTCACCTTCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAACCAGGAGTGCAGTGCAGTGGCACGATCTCGGCTCACTGCAAGCTCCGCCTCCTGGGTTCAAGCAATTCTCTTGCCTCAGCCTCCAGAGTAGCTGGGATTGCAGGCGCATGCCACTATGCCCGACTAATTTTTTGTATTTTTAGTACAGACAGGGTTTCACTGGGTTAGCCAGGAGTCTTGATCTCCGCCTGCCTCAGCCTCCCAGTATGCTGGGATTACAGGCATGAGCCACTGCACCCAGCCTCCTTCCACCTTCCTAAGCCACTTCCCCCAGTGCCCTTCACCAGGCTTCTCCTTCCACCTGGCTTCAGCGACCCAAGCCCCTAGGAAATTGATCTCTTGCCTCCTTTTAAGCTCATGCTGCAATCTCCACTCCCAATCTCTCTAACAGGCTGGGTGGAGAAGGAGACATACTACTGACCCCATTGGAAGAAGAACCAGGCATGGAAAGATGGGGAGCTCTGGAGGTGTTGTGGGGATGGTGATGGAGAGGGATGGAAATAACGGGTGGCATTGGGTGGCAACATTTGGGGAGAGATAATGAGGCAACTCAGCAGGCTAAGTTGCGGGGTATATAAATTGGGGTGATGACCCCATAGACCTAACTGTGAACAATCAGATTAGACACTATGTGTTAGAGTCCCCCCGACCAGATCCTTTTCCATCCCACTCCACTATGTTGTCTATTTTTTCTGAGGAATTAAGGGTTACCCCACCCTGCCCACTCCCATCCCTTCAACCCCACTTCCTACTGTAATAGATCAGCATCCAAAAGCAGGAACCCATCTAAACCAGAAGGAAGCCCTCTCAGATCACCCCAGCCTCACTCCATTTCCCACTTCCACCCCCGTTAGCTTCCTGCAGGACTCTATCCCTGGCT
CTCAGTAATGACTGTGATTCTATTATGGGTGGTGGTTGAGCGCTGAAGGTTTCATGCTGGTTCCTTTTATTTTCTCCTACCATAAACAATGGCCACAATTCCTCACATGAGGTTGTTACAGTTTCTTAGTTTGGGGCTGGGGAGGGTGGGGAGAAGATGCCAAAGTGAAGTTAATAACACTTAAGATCCAAGGGAGAATAAAGTGAAAAGCCTGTTAGATAAATAAAGGTAACATGAAGGAAGGAGATTCCAGTAAGCTAAAAATACTAATGGAAAAAAAATGCAATTTGAAGAGAACAAGGAGCAGAGAGTCTAAGAAATTGGGTATAATTCTGGGGCCTGGGACTTGCTATGCACTGCAGGGATGACACACGAAGGTGGGAACATGGCCATAGTGGCTGCATCCAGCCCATCTTAGAGGCAAATGGGAAAAATGGCAAATGAAAATCAGGCTGGGTACAGAGGAAGAGTACTAATACCACCACAGGCCTCACCTTAGGTCCCTGGGCCACTGGGGATCCTCAGAGATGCTATTTGCCTTATTTTGAAAAGCTTTATGAAAATAAAGCACTCACCTATGCGAAGGCAACCAGGCTTACTAATGTGTCATTCTTAGGCAAAAGCCAAGAGCGCATATCATGACGTGGTGATCGGATGCTGATTCACAGTTCTGTCTGGAAGCCATGGATAGTTCTAATTAATTTTAAATGGGGAAATGTATTCAATACTTATTCACAAATGTAGCTTGAGAGACAAACAATTAAATGTGGCCTTTACAGAAGAAAATAAGGAGGTCCTTAGTGAGTGAAAATTTGGAAATCACTGGCTTGAACCAAAAAGAGGTACCTTGTGTAAGAATACAAAAGATGGAGTAGCCGGGGACAGTGGTTCACACCTGTAATCCCAGCACTTTGGGAGGCTGAGACAGGAGAATCAATTGAGCCCAAGAGTTTGGTACTAGCCTGGGCACATGGTGAAACTCTATCTCTACAAAAAATATAAAAATTAGCAGGGCGTGGTGGCACACACCTGTAATTCCAGCTACTGGAGAGGCTGAGGCAAGAGGGTCACTTGAGCCCAAGAGGTGGAGGTTACAGTGAGCTGTGATCGTCCAGCCTGGGCAACAGAGTGAGACTCTGTCTCAGAAAAAAAAAGTGGAGTAATAATGTGACTGAACATTTTCCAGGTCTGTCACTGAACATTTCAGTGACAGAACATTGCAGAGCTTTTCACGTGTTATCTCCCTTAATTTTCCCAGCAACCCTATGATAAAAAGGTAAAATCTCCATTTGATAGAGAAGGAACGTGAGGCTCAGAGAAATTCAACATTGCCTGCAACCCAAAGCTAGTCAATGGCAGAACTGGGAATAGACACCACCTGTCTGACTGCAGAAACTGCCCTGAGAACCTCCTTATTCTATCCTGCTTTTCAATTCTGATAAAGTGAACATATATTAACCACTTATTATGCAGTGATCCCCTTTACATTCTCTGAATTAAATATCTATAATGAAACCACCACCAGGAACTGTGGGAGATGCTGAGACGGTAGAAGACATACATGGGCCCTGCACTGAAGGAGCTTTCAAGCATCTTGCTGGGGAGACACACTTTCATGGGCCCTGTGCCTGGAGCAATAACAAGATCATGAGACAGGCCCCATGTTGACCACCGTGTCTCCAGTACAGAACACGTCACCCAACACCTAGAAACAATTATTTAATGAATGAATATACGTGCAATAGACAACATTCGGACGTAAACTCAGTAAGCAGAAAAACAAATAACATCTTCCTTTGGTTACATAAAGCATGAGAAGAGGCTGTTGGAAGAAGACATGCGACTATGTCGTTTAGAATTCTCTCTCCTCTTTCCCTTGCACCCCAGGGGTATCCCAGGATCTCTGCCTCCATGATCCCCCTTCACCTGCCACCTCCTTTCTTTGCCTTTCAGGAACAAGATCCTGATTTTTGGGCTCCTGGAGGAGACGGCGTTGGCTGCCTTTCTCTCTTACTGCCCAGGCATGGGTGTAGCCCTCCGCATGTACCTGCTCAAGTGAGTGTCTCTTTCGGGCGGCCTGAGTAGTCATACGGGGGGCCTTCAGCCCCCTCCAGGATCCAAGTTCTGATCGCTTTGAATGCTCCTTTATGTGACAGCCACCAAGCCAACCTCTGATGCTGCTGACACTCTCCTCCATTGCTTTCAGAGTCACCTGGTGGTTCTGCGCCTTCCCCTACAGCCTCCTCATCTTCATCTATGATGAGGTCCGAAAGCTCATCCTGCGGCGGTATCCTGGTGGTAAGCCCCTCCACATTCCCCCCAGCAAAGTGCAAGCCCCACCACCAGCTCCTCCCTCCAGGACCACACGCAGACTCCACTCCCACTACTGGTTCCTGCTTCTGTTCCTCAACACCCTCAGATCCTGGGGTCCCAGGTCCCAGGAGCCCTGACTCTTTCGAACCTGTTGTCTCTGCCCTCTTCCCATCAGATTCTAAACCCCGCCTAACTCACAGTTGGTCTCCGAGGCCCTCCACCTTCCACCTGAAACCACAGAACATCAGAATTAGAAGGGCCTTTCCAGGTCACCTAGTCCCACGTCCATATTTTACAGATAGAGGAGGCTCAGAGGTGAATCTGTTCAGGGTCGTAAAGCAAAGAATAGCAGGACTGGTACTAGAACCCAGGCCTCCTGATCCCCACTCATCAACCGACAAGTTATTGTTTTTCCTACAAGCGTTTTTTAATCACTTAGTAGAGGTTAAAATATGATGGCTTACAAACCAAATACTGTCCAGGAATACTGTTTGGTTTGACCTGTGCCATATTTTGTGTGTGTGGGGGGAGGAGGGTGGATTAATTGGTCCGATATAGAAAATTTAGGGTCTTTCACATAAAATCTGAATTCGACTTCTCCTGAAGATCAGAAGAGCTGTTAATCCCATGTCCACATCTCTGCACAGCAAGAATGGACAGCTGCTCCCTTAGACTCTCGTTCGTCACCTGAAGAGGCCCTGTGGGCGTTTGCATTTTCACCCTCGACCTATTCTGCCCCAGCCTCCAATGTGCTAAATACAAGTCTCCCCTAAAGGCAGGTTCACCCTCCCTTCCTTTAACCTATGGCCCCAGCTCACTGGACCTCCTTCTCCTCCCTTTCACCTTCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAACCAGGAGTGCAGTGCAGTGGCACGATCTCGGCTCACTGCAAGCTCCGCCTCCTGGGTTCAAGCAATTCTCTTGCCTCAGCCTCCAGAGTAGCTGGGATTGCAGGCGCATGCCACTATGCCCGACTAATTTTTTGTATTTTTAGTACAGACAGGGTTTCACTGGGTTAGCCAGGAGTCTTGATCTCCGCCTGCCTCAGCCTCCCAGTATGCTGGGATTACAGGCATGAGCCACTGCACCCAGCCTCCTTCCACCTTCCTAAGCCACTTCCCCCAGTGCCCTTCACCAGGCTTCTCCTTCCACCTGGCTTCAGCGACCCAAGCCCCTAGGAAATTGATCTCTTGCCTCCTTTTAAGCTCATGCTGCAATCTCCACTCCCAATCTCTCTAACAGGCTGGGTGGAGAAGGAGACATACTACTGACCCCATTGGAAGAAGAACCAGGCATGGAAAGATGGGGAGCTCTGGAGGTGTTGTGGGGATGGTGATGGAGAGGGATGGAAATAACGGGTGGCATTGGGTGGCAACATTTGGGGAGAGATAATGAGGCAACTCAGCAGGCTAAGTTGCGGGGTATATAAATTGGGGTGATGACCCCATAGACCTAACTGTGAACAATCAGATTAGACACTATGTGTTAGAGTCCCCCCGACCAGATCCTTTTCCATCCCACTCCACTATGTTGTCTATTTTTTCTGAGGAATTAAGGGTTACCCCACCCTGCCCACTCCCATCCCTTCAACCCCACTTCCTACTGTAATAGATCAGCATCCAAAAGCAGGAACCCATCTAAACCAGAAGGAAGCCCTCTCAGATCACCCCAGCCTCACTCCATTTCCCACTTCCACCCCCGTTAGCTTCCTGCAGGACTCTATCCCTGGCT
Task1_train_1966
A sequence alteration has been identified in CASQ1 (calsequestrin 1) on Chromosome 1. Is it disease-inducing or harmless?
Pathogenic; not provided
ACTGCACACACACACCACACACACACACATACACCACACGCACACACACCATACATACACCACACGCACACACACCATACATACACACACACACCACCTGCATACACACCACACATATGCATGCACATGCACACAATAGTTCACAAATCACCTACACACCACACACTACACATAGGCACCACATGCACACCACACACACTACACACACCACACACACATCATATACATACCACACACCCATCACACACATATCACATGCACACACACACCACATGCACACCACACACTCCACACACATCACACACCACATGCACATACACAACAAACACACACCACACATGCACACACACCACATCCATGCCACGCAAATGCACACACCACACACGCCACACATGTACACACACACTACACACATGCACACACATCACACATATGCCACACATGCACACAATAGGCCACACATCACCTAGATACCACACACTATGCATATGCACCACATGCACACCACACACACAACACACACCACACACACCCATCCATACACACCACACACAACATATACATGCCACACACCCACCAGATATATCACATGCACACACACCGTACATGCGCACACACACACCACATGCACATACATACCTGCACACCACACATGCACACACTACACACATGCACACACCACATGCACACTCCACACGTACACACACCACACATTCACACACATCACACACATGCCACACATGTACACAGTAGGCCACACATCACCTACATACCGAACACTACACATATGCACCACATGCACACCACACTCATACCATCCACACACATCACACACACATCATATACATACCACACACCCACCATACATATATATCACATGCACACACACACCACACATGCACACCACACACTGCACACATCACACACTATACACACACACGCACATGCAATCCCCCACACACACACCCACACACTGTCAACATCTAGCCCCCTCCTCCAGTTCCCCAGCCTTCTTTTCCCTAGGTCCCTTTCTGGTTCTACTTGAGGATAGAAACTCTCTTCCTGCAATGTCCTCCTCTTTCAGGTCCTAGAGGACCCTGTGGAATTGATTGAAGGTGAACGAGAGCTGCAGGCGTTTGAGAATATTGAGGATGAGATCAAACTCATTGGCTACTTCAAGAGCAAAGACTCAGAGCGTGGGTAACCCTCAGACTCCACTGTGCCCCTCTCTGGATCCCCATCTCACCTGTCCTCCCACCTCCCCACATCACCCAGTGTCTCAGCCTCTACCTCTGCACTTCCCACCTCTTCCTCCAGCCGTGGTCAGCACCATCAACAGCTCTGACCTCCCTGTACTCTGGGGGTTCCCAGACAAGCACCTCCAGTATTCCACCTTCCCCTCACTCTCGAAGAACTAGAAGGGGTGGGTCTCAAAATGAACCCTGCCTGCAAAGAATTGGGGACGATAGTGGGGGATGATTCCCGGGCAGACCCTGGTTTCCCCAGAGACTGACTCTGCATTCCACCCCCCAGATTACAAAGCCTTCGAGGATGCAGCTGAGGAGTTTCATCCCTACATCCCCTTCTTCGCCACCTTCGACAGCAAGGTTCTCCTCCCCGCAGCTGTATTGGTTCTGCCTCATGTCCTGAAGCTGTCCTCCAGTTTCCTCTCCCAGAATCGATGGCTGACCTGGTCCCTTCCTACGTGCTGGCACTCCCTACCTGCCCCCCCCCCCGGCTCCTCCCACTCCATAGATTTAGAGCTGAAGAGGGGCTTTAGATGATCTAACACCCCTCTCATGTTAAACCCAACCCCAGGCAAGTTAAGACACTTGTCAGGTGTCACAGTGGCAGTGACAAGGATCCCGGCTTTCTGACTCCCTTCCTAATATTTGTTCCCCCATTATACTGCTTCTCGACATGACCCTGTGTCTCCTGCTCCACTCCCCTCCTACCCCCTCTCCCAAAGGTGGCAAAGAAGCTGACCCTGAAGCTGAATGAGATTGATTTCTACGAGGCCTTCATGGAAGAGCCTGTGACCATCCCAGACAAGCCCAATAGCGAAGAGGAGATTGTCAACTTCGTGGAGGAGCACAGGAGGTGGGGACCAAGGGCAACCCTCTCAGCGGGGTCGGCTCCTCCTTGGGCTAGAACACACTGTGTGAGATGGGCTGGGGAAAGCTTAGCCAACCGGGAAGCCAATCTTGCCTGGAGATGAATACACTTTGGGCACCAGTGCTCTCTGATACACTGACAATTTTGCACAATATTTTATACCCCACTACTTAGCCCTGAGCCCTACACCGAGAGGGTCCTTCATAAGTGTGTATAATTCAGTGTGAGGTTGATTGAGACTTAAATAATCTCTGTCAACAAATGAGTGTTGACTGCCTGTGGTGGGGCAGGAACTGCAAGGTACTTTCCATCTCTATGATTATATTAAGTCCTTTTAACCTCAGTGAAAGTTTCTACAGGTAATAAGTGTCAGAGCTTTTAACCCTGATTTTAACCCTGATGTGTCCCATGTTTGTTCTTTTTTTCTTCTTCTTCTTTTTTTTTTTTTCTTCCGAGACCGAGTCTTACTCTATCCCCTAGGCTGGAGCACAGTGGCGCCATCTTGGCTCACTGCAGCCTCCGCCTCCCAGGTTCAAGCGATTCTCCTTCCTCAGCCTCCCAGGTAGCTGGAATTACAGGCACGCCACCACACCTGGCTAATTTTTGTATTTTTAGTAGAGATGGGGTTTCACCACGTTGGCCTGGCTGGTCTCAAACTCCTGACCTCAAGTGATGCGCCTGCCTCGGTCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACTGCGCCTGGCCCCATGTTCTTTCTAATACAATATCGTACACCAATGGTTCTCTACAAGGTGGGAAGGCGTGGCGAGGTGGGCATAGGTTTTTGCCCTCCAAAGGATGTTTGGCAATGTCTAGACACATTTTTGGTTGTGCAGAGTGCTACTAGTATTTAGTGGCTAGAGCCCAGGGATACTGCTAAACATTCTACAGTGCGCAGGACAGCCCCCTACTACAAAGAATTATCTGGCTCCAAATGGCAATAGTGCTGAGGTTGAATAATCCTGCCGGGCACTCACACATAATTCCCTTCCTTCATAGTAGTCCACAGCTGGAAATATCCAATCACTCTGTCCCCCAGGCTAGCGTGCAGTGGTGGATCACTGCAAGCTCCCTTGCAGTATATACAGTACTTACTCTCCCATACTACTGGCTCCCTTCATCAAGGCAGGAACATGCTTGCCTGGTTCAACTGTATGTACCCAGCACCTAGCATAGTGCTTAGAACATATCGGGCACTCAATCATAGTGAGTGAGTGAATGAATGAATAAATTAATGAATATCCTGATGTCCAGTTCTTGCCTTTCTCCCCCAGTCTCTCTTCCAGTCCCTTTGCCCACCCTCCCCTCTCCCACCGCTTTAACCATGCAATGAGCCGGGCCTGGTGCCCAGAGTTGAGGCCTTGCCAGATGGCTTTGTTGTAGGCTACAAGCTGTCTGTGCCCTGGGCCTGACCTAGAGGCAGCCTTTGCTACAGGACCCTCTGGAGGGGGCATCCTTCTAACCCACTGAGTAATGACACTCTGTCTGTCTCTTCTAGATCAACCCTGAGGAAACTGAAGCCGGAGAGTATGTATGAGACCTGGGTGAGTGCCCCTGGCCAGGGTCAAGCCCTCAGGGAAGCATGGGTGCCAGAAGACTCAAGTCCTAGAAAAACCCCACCCTACTGCTCCTCAGGCCCATTTTTAGAAAAAACAGTGCACTGACCAGCTGGGTGTGGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGTGGGTGGATCACGAGGTCAGGAGATCGAGACCATCCTGGCTAACACAGTGAAACCCCATCTCTACTGAAAATACAAAAAAAATAGCAGGGTGTGGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATGGCTTGAACCCAGGAGGCGGAGCTTGCAGTGATCCGCCACTGCACACCAGCCTGGGGGACAGAGTGAGACTCCGTCTCAAAAAAAAAGAAA
ACTGCACACACACACCACACACACACACATACACCACACGCACACACACCATACATACACCACACGCACACACACCATACATACACACACACACCACCTGCATACACACCACACATATGCATGCACATGCACACAATAGTTCACAAATCACCTACACACCACACACTACACATAGGCACCACATGCACACCACACACACTACACACACCACACACACATCATATACATACCACACACCCATCACACACATATCACATGCACACACACACCACATGCACACCACACACTCCACACACATCACACACCACATGCACATACACAACAAACACACACCACACATGCACACACACCACATCCATGCCACGCAAATGCACACACCACACACGCCACACATGTACACACACACTACACACATGCACACACATCACACATATGCCACACATGCACACAATAGGCCACACATCACCTAGATACCACACACTATGCATATGCACCACATGCACACCACACACACAACACACACCACACACACCCATCCATACACACCACACACAACATATACATGCCACACACCCACCAGATATATCACATGCACACACACCGTACATGCGCACACACACACCACATGCACATACATACCTGCACACCACACATGCACACACTACACACATGCACACACCACATGCACACTCCACACGTACACACACCACACATTCACACACATCACACACATGCCACACATGTACACAGTAGGCCACACATCACCTACATACCGAACACTACACATATGCACCACATGCACACCACACTCATACCATCCACACACATCACACACACATCATATACATACCACACACCCACCATACATATATATCACATGCACACACACACCACACATGCACACCACACACTGCACACATCACACACTATACACACACACGCACATGCAATCCCCCACACACACACCCACACACTGTCAACATCTAGCCCCCTCCTCCAGTTCCCCAGCCTTCTTTTCCCTAGGTCCCTTTCTGGTTCTACTTGAGGATAGAAACTCTCTTCCTGCAATGTCCTCCTCTTTCAGGTCCTAGAGGACCCTGTGGAATTGATTGAAGGTGAACGAGAGCTGCAGGCGTTTGAGAATATTGAGGATGAGATCAAACTCATTGGCTACTTCAAGAGCAAAGACTCAGAGCGTGGGTAACCCTCAGACTCCACTGTGCCCCTCTCTGGATCCCCATCTCACCTGTCCTCCCACCTCCCCACATCACCCAGTGTCTCAGCCTCTACCTCTGCACTTCCCACCTCTTCCTCCAGCCGTGGTCAGCACCATCAACAGCTCTGACCTCCCTGTACTCTGGGGGTTCCCAGACAAGCACCTCCAGTATTCCACCTTCCCCTCACTCTCGAAGAACTAGAAGGGGTGGGTCTCAAAATGAACCCTGCCTGCAAAGAATTGGGGACGATAGTGGGGGATGATTCCCGGGCAGACCCTGGTTTCCCCAGAGACTGACTCTGCATTCCACCCCCCAGATTACAAAGCCTTCGAGGATGCAGCTGAGGAGTTTCATCCCTACATCCCCTTCTTCGCCACCTTCGACAGCAAGGTTCTCCTCCCCGCAGCTGTATTGGTTCTGCCTCATGTCCTGAAGCTGTCCTCCAGTTTCCTCTCCCAGAATCGATGGCTGACCTGGTCCCTTCCTACGTGCTGGCACTCCCTACCTGCCCCCCCCCCCGGCTCCTCCCACTCCATAGATTTAGAGCTGAAGAGGGGCTTTAGATGATCTAACACCCCTCTCATGTTAAACCCAACCCCAGGCAAGTTAAGACACTTGTCAGGTGTCACAGTGGCAGTGACAAGGATCCCGGCTTTCTGACTCCCTTCCTAATATTTGTTCCCCCATTATACTGCTTCTCGACATGACCCTGTGTCTCCTGCTCCACTCCCCTCCTACCCCCTCTCCCAAAGGTGGCAAAGAAGCTGACCCTGAAGCTGAATGAGATTGATTTCTACGAGGCCTTCATGGAAGAGCCTGTGACCATCCCAGGCAAGCCCAATAGCGAAGAGGAGATTGTCAACTTCGTGGAGGAGCACAGGAGGTGGGGACCAAGGGCAACCCTCTCAGCGGGGTCGGCTCCTCCTTGGGCTAGAACACACTGTGTGAGATGGGCTGGGGAAAGCTTAGCCAACCGGGAAGCCAATCTTGCCTGGAGATGAATACACTTTGGGCACCAGTGCTCTCTGATACACTGACAATTTTGCACAATATTTTATACCCCACTACTTAGCCCTGAGCCCTACACCGAGAGGGTCCTTCATAAGTGTGTATAATTCAGTGTGAGGTTGATTGAGACTTAAATAATCTCTGTCAACAAATGAGTGTTGACTGCCTGTGGTGGGGCAGGAACTGCAAGGTACTTTCCATCTCTATGATTATATTAAGTCCTTTTAACCTCAGTGAAAGTTTCTACAGGTAATAAGTGTCAGAGCTTTTAACCCTGATTTTAACCCTGATGTGTCCCATGTTTGTTCTTTTTTTCTTCTTCTTCTTTTTTTTTTTTTCTTCCGAGACCGAGTCTTACTCTATCCCCTAGGCTGGAGCACAGTGGCGCCATCTTGGCTCACTGCAGCCTCCGCCTCCCAGGTTCAAGCGATTCTCCTTCCTCAGCCTCCCAGGTAGCTGGAATTACAGGCACGCCACCACACCTGGCTAATTTTTGTATTTTTAGTAGAGATGGGGTTTCACCACGTTGGCCTGGCTGGTCTCAAACTCCTGACCTCAAGTGATGCGCCTGCCTCGGTCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACTGCGCCTGGCCCCATGTTCTTTCTAATACAATATCGTACACCAATGGTTCTCTACAAGGTGGGAAGGCGTGGCGAGGTGGGCATAGGTTTTTGCCCTCCAAAGGATGTTTGGCAATGTCTAGACACATTTTTGGTTGTGCAGAGTGCTACTAGTATTTAGTGGCTAGAGCCCAGGGATACTGCTAAACATTCTACAGTGCGCAGGACAGCCCCCTACTACAAAGAATTATCTGGCTCCAAATGGCAATAGTGCTGAGGTTGAATAATCCTGCCGGGCACTCACACATAATTCCCTTCCTTCATAGTAGTCCACAGCTGGAAATATCCAATCACTCTGTCCCCCAGGCTAGCGTGCAGTGGTGGATCACTGCAAGCTCCCTTGCAGTATATACAGTACTTACTCTCCCATACTACTGGCTCCCTTCATCAAGGCAGGAACATGCTTGCCTGGTTCAACTGTATGTACCCAGCACCTAGCATAGTGCTTAGAACATATCGGGCACTCAATCATAGTGAGTGAGTGAATGAATGAATAAATTAATGAATATCCTGATGTCCAGTTCTTGCCTTTCTCCCCCAGTCTCTCTTCCAGTCCCTTTGCCCACCCTCCCCTCTCCCACCGCTTTAACCATGCAATGAGCCGGGCCTGGTGCCCAGAGTTGAGGCCTTGCCAGATGGCTTTGTTGTAGGCTACAAGCTGTCTGTGCCCTGGGCCTGACCTAGAGGCAGCCTTTGCTACAGGACCCTCTGGAGGGGGCATCCTTCTAACCCACTGAGTAATGACACTCTGTCTGTCTCTTCTAGATCAACCCTGAGGAAACTGAAGCCGGAGAGTATGTATGAGACCTGGGTGAGTGCCCCTGGCCAGGGTCAAGCCCTCAGGGAAGCATGGGTGCCAGAAGACTCAAGTCCTAGAAAAACCCCACCCTACTGCTCCTCAGGCCCATTTTTAGAAAAAACAGTGCACTGACCAGCTGGGTGTGGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGTGGGTGGATCACGAGGTCAGGAGATCGAGACCATCCTGGCTAACACAGTGAAACCCCATCTCTACTGAAAATACAAAAAAAATAGCAGGGTGTGGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATGGCTTGAACCCAGGAGGCGGAGCTTGCAGTGATCCGCCACTGCACACCAGCCTGGGGGACAGAGTGAGACTCCGTCTCAAAAAAAAAGAAA
Task1_train_1967
Gene DCAF8 (DDB1 and CUL4 associated factor 8), found on Chromosome 1, is impacted by this variant. What is the biological outcome — benign or pathogenic?
Pathogenic; not provided
ACTCAATACTGGTACTGACCTATAAGATCTGTTATAATAATTTTGGTTTTTTTTTTTGAGACAGTCTTGCTGTGTCACCCAGGCTGGAGTACAGTGGCATGATCTCAGCTCACTGCAACCTCCACCTCCTGGGCTCAAGCGATTCTCCTGTCTCAGCCTCCTGAGTAGCTGGGATTATAGGCATGTGCCACCACACACGGCTAATTTTTGTATTTTCAGTAGAGACGAGGTTTCACCATGTTAGCCAGGCTGGTCTCGAACTCCTGACCTCAAGTGATCCACAAAGTGCTGGGGTTACAGGCATGAGCCACTGCACCTGACCAAGATTTGTTATAATAATCTTTAAGACAAACAAGACAATAAACGATCTAGATATCTATCAATAAGGTAAAGGTTAAATAAACTGTGGTACACCAATGCTATGACATTTCTCTCATGGTTAACAACAAGGTAGCTTTTATGGTCCAACACAGAAAAATCTCCCACATTGTAACATGAAATAAGCAAACTGCAGAAACATACATATATGTTTATATATACATACAAGTATACTTATGGGGAGAAAGGAGAAAGTGTATATATGTATTTAGGTACAAAATGTATACAAAAGGGACTAAAAAGGTGTTCAAAATTACTTACAATGATTTTTTTTTTTTTTCTGAGATGGAGTTTTGCTCCGTCACTCAGGATGGAGTGCAGTGGCATGATCTCAGCTCACTGCAACCTCCACCTCCCAGGTTCAAGCGATTCTCCTGCCTCAGCCTCCTGAGTAGCTAGGGTTACAGGCACATGCCAACATGTCCAGCTAATTTTTGTATTTTTAGTAGAGGTGAGGTTTTGCCATGTTGGCTAGGCTGGTCTCAAACTCCTGACCTCAAGTGATCCACCTGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGTGCCCTGCCCACAATGGTTTTCAACAGCTAAAAAAATGGTGGGGCGGGGGTGACTGAGGGAGCATTTACATTTTGTCTGTATACTTTATTACTTGAATCTCTTAAACAAGAAGTATTTGTTTATTGTAAGAGCAATAAAAATGAAAAAAGAAACTAAAATAATTATAATTATAAGCTAAAACTTAATCAATTTCAGCCATGGTGTTAAACATTATGCTGAGGCATCACACACAAACACACACACACATACATACACGTACGTATATATATACATACATATATACGTGTGTGTATATAAATACATATGTGTGTATATGTGTGTACATATGTGTGTATATAAACATATATGTGTGTGTATATATGTGTACATGTGTATATGTGTGTGTATATATGTGTGTGTGTATGTGTGTGTGTGTGTATATATATATATATCCTCACAGAAACTACTAGAGAGGGAAGGACGGAGGGAGGGAAAAAAATATGCCCATAGCAAGGCTGAAGAAAATGAGGTTCAGAAGGTTATGTAAGTCATAACTAGTAGTGCCTGATTTGAGATTTGACCTAGGTCTGCCTGGATCCAAACAAGATGTTGTGTTTTTTCTATGATACCACACAGTTAAAAAGGAATAAAATTTACCTATGAGTCTCAGATTCACATACAAATGAACTGTGATAAAACAGAACTCAACTACAGCTACCAGTATTTTTGTTCAAATTTTATGTTTGTATGTTTCTATAAATAACTAAATTAAAAATGTATTTAAATTTAAAATTTACAGGACTGTACCTCTACATGAGTCTGTGGAAGAATGTGCTTTCTGTGGGTAAGATGAATGATATCCAAGTGAATAAAGAGCAAAAGATCATCAAATTATTAAAGGCCACATATAACAAGTAAACTGTTTGAGAAATGAAGGTAGACTGAATAGTATTTCACTACTGAGAAAGAGAGGAAGTAAGGAATTCCCCTTAACCTTAAACTACCTCTTAACCATAGGCACAAAGGTACTATTCGGATGAACCAGAGTTAGGCATTACCAAGACATATGGAATATGTTCAAGGCTAAGAGATACAGTTCTGTAATGATATTACTGCTACACTTACGACGCTGGGCGGTCTTGTCTCAGGTCAATGGTGAAAACAACTGCATCTTCACCTGCAGATAAGAACGTACAGGGAGAGTCTGGTTCCAGTGCCAACTGAAGAAGAAAAAGGAAAAACATGAGGTTTCTAAATATTAGAATTAGAGGTCATCTAGTTCATTCCTATAACTTTGGGAAGGGCTGCACTTAAAATGTTCCAAAAAGAGAAATGTCTACCTTTTTGTCATAAAATCCCAGGAAAGGACATAATCTAAGCCCACTTACTCTTGTTCTATGCGAATTATTTATAGTTTTGTTTATTCTATAACTAGTCAAAGGACAGTTGATTTGCTATTTCAACTAAGTCCTCAAGAGATATGAACAGATAGCAAAGAAAAACATCAGCCATTAGAGTTCATTTTCTTTTTTTTCCAGTCAGGGTCTCACTTTACCACCCAGGCTGAAGTGCAGTGGCATGATCATGGCTCACTAAAGCCTCAACCTTGTGGGCTTAAGTGATCCTCCCACCTCAGCTGCCCAAGTAGCTGGGACTAGAGGCACAAGGCACTATACCTGGCTAATTTTTTCGCTTTTTTTTTGTTTGTTTTCCACAGATGGGGTCTTGCTATATTGCCCAGGCTGGTCTTTAACTGCTGGCCTCAAGCAGTCCTCCCACCTCAGCCTCCCAAAGTATTGGGATTACAGGCATAAGCCACCACACCCAGCAACAGTTCATTCTCGAATAAAATCAATTCCATACCCTTAAGTGCAGAGAGAAATGGTGTCCAACTTCATTCCTTACATCTTAGTTCCTTACAACTGAAAATCAGTTAACTAGTGGGTTAGGAGTAGACTTAAGAATCAAAGAAATAGGTAATTTTCACATATCCTGGGCCGCCTTGGCTAGAAAAGGATACTCCAGGTCCACCTATATTTTTGCTTAGGGTTTCTAAGAGAGTACCAACCTCTTTTCATGGCACAAAAGACCAACACCATGCCTACCTTAAAACTGGCAGCTCTTAACTCCTTGTTAGCTGCCACCATGGATTATTTGGCCTATATTCCCAGCTTTAAATAGGGCTTCCAGAAACAGTGCTATTTGTGAACTGAGAGTTTGAGCAGGTAAGCTGAAGCTCTCACACAAGAGGAATAAACCACTAGCACCTTGAAACTGTCAAAATACCCTAAAAAATCACAATAAATGTAAAAGGTTTAGAGGGCACAGGAGACCTCAAAGATCTCCAAACCAACTAGGGCTTAGCTTAGGGGCCAAATACTATGAATGCATGATCTAGGGACTTTTCAGATACTTGCCTTCCTAGGAGTTTAGGGTGGCTGCTTTTGCTCCTTTCTTAACCACAAATCTTAGGACTGAAAGAGGTGAGGCACATGACCACAACAAATGTGACACAATGGGCAGAGATAAGGGAGAACCTTGGCTGAGAACCACAGAGGATTTGGATTGCACAAATTTTGGAGCAAGGTCTTACTTACCTTGTGGGACGCTCCCTTGTGCTGGGCCACACGTTTTGTATTCTTGCAACACTGTGTGGCAGACAGTTCTGCTACTCGAACCTGCCCGTCACGGGCACACATGGCCAGAGTAGAATCACCACTGTTAGGAAGAAACTTGGCCTGGGGTGTTAAAAATGAAAAAAAGGACACACAAAAGAAATGAGAGAGGTAAACTTGAGAATAAAAAATACGATGATGACCTCAACTTACCCCCTTTTCTTACATGACAGCTGGAAACTTAGCTTTCCTACTCTTGTACAGCTGGCTAAGCCCAATTTCTTCCAGGAGTTAAAGGAAAGGGAGAGAAAAAACTTCCTTTGATGTAAGAGAGCATTTCAGTTGGCTCTGGAAGATTGAACTGGCACATGATAAGAGCTCAGATGAACTAGGACTGTATCTAGCAGAGGAGAAAAGGAATAGAGGAGGAAAAATCTACTTTGATTAAGAAAGTAAATATAAATTTGCTACAAAGAAAAAGGAAAATAGGGGGAATGTCAGGGAAGAAAAGAGAACACCCTTAGGATAAATGGCTGGTACCAGTACAGTAGATGGGGCCAAGGAGTAA
ACTCAATACTGGTACTGACCTATAAGATCTGTTATAATAATTTTGGTTTTTTTTTTTGAGACAGTCTTGCTGTGTCACCCAGGCTGGAGTACAGTGGCATGATCTCAGCTCACTGCAACCTCCACCTCCTGGGCTCAAGCGATTCTCCTGTCTCAGCCTCCTGAGTAGCTGGGATTATAGGCATGTGCCACCACACACGGCTAATTTTTGTATTTTCAGTAGAGACGAGGTTTCACCATGTTAGCCAGGCTGGTCTCGAACTCCTGACCTCAAGTGATCCACAAAGTGCTGGGGTTACAGGCATGAGCCACTGCACCTGACCAAGATTTGTTATAATAATCTTTAAGACAAACAAGACAATAAACGATCTAGATATCTATCAATAAGGTAAAGGTTAAATAAACTGTGGTACACCAATGCTATGACATTTCTCTCATGGTTAACAACAAGGTAGCTTTTATGGTCCAACACAGAAAAATCTCCCACATTGTAACATGAAATAAGCAAACTGCAGAAACATACATATATGTTTATATATACATACAAGTATACTTATGGGGAGAAAGGAGAAAGTGTATATATGTATTTAGGTACAAAATGTATACAAAAGGGACTAAAAAGGTGTTCAAAATTACTTACAATGATTTTTTTTTTTTTTCTGAGATGGAGTTTTGCTCCGTCACTCAGGATGGAGTGCAGTGGCATGATCTCAGCTCACTGCAACCTCCACCTCCCAGGTTCAAGCGATTCTCCTGCCTCAGCCTCCTGAGTAGCTAGGGTTACAGGCACATGCCAACATGTCCAGCTAATTTTTGTATTTTTAGTAGAGGTGAGGTTTTGCCATGTTGGCTAGGCTGGTCTCAAACTCCTGACCTCAAGTGATCCACCTGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGTGCCCTGCCCACAATGGTTTTCAACAGCTAAAAAAATGGTGGGGCGGGGGTGACTGAGGGAGCATTTACATTTTGTCTGTATACTTTATTACTTGAATCTCTTAAACAAGAAGTATTTGTTTATTGTAAGAGCAATAAAAATGAAAAAAGAAACTAAAATAATTATAATTATAAGCTAAAACTTAATCAATTTCAGCCATGGTGTTAAACATTATGCTGAGGCATCACACACAAACACACACACACATACATACACGTACGTATATATATACATACATATATACGTGTGTGTATATAAATACATATGTGTGTATATGTGTGTACATATGTGTGTATATAAACATATATGTGTGTGTATATATGTGTACATGTGTATATGTGTGTGTATATATGTGTGTGTGTATGTGTGTGTGTGTGTATATATATATATATCCTCACAGAAACTACTAGAGAGGGAAGGACGGAGGGAGGGAAAAAAATATGCCCATAGCAAGGCTGAAGAAAATGAGGTTCAGAAGGTTATGTAAGTCATAACTAGTAGTGCCTGATTTGAGATTTGACCTAGGTCTGCCTGGATCCAAACAAGATGTTGTGTTTTTTCTATGATACCACACAGTTAAAAAGGAATAAAATTTACCTATGAGTCTCAGATTCACATACAAATGAACTGTGATAAAACAGAACTCAACTACAGCTACCAGTATTTTTGTTCAAATTTTATGTTTGTATGTTTCTATAAATAACTAAATTAAAAATGTATTTAAATTTAAAATTTACAGGACTGTACCTCTACATGAGTCTGTGGAAGAATGTGCTTTCTGTGGGTAAGATGAATGATATCCAAGTGAATAAAGAGCAAAAGATCATCAAATTATTAAAGGCCACATATAACAAGTAAACTGTTTGAGAAATGAAGGTAGACTGAATAGTATTTCACTACTGAGAAAGAGAGGAAGTAAGGAATTCCCCTTAACCTTAAACTACCTCTTAACCATAGGCACAAAGGTACTATTCGGATGAACCAGAGTTAGGCATTACCAAGACATATGGAATATGTTCAAGGCTAAGAGATACAGTTCTGTAATGATATTACTGCTACACTTACGACGCTGGGCAGTCTTGTCTCAGGTCAATGGTGAAAACAACTGCATCTTCACCTGCAGATAAGAACGTACAGGGAGAGTCTGGTTCCAGTGCCAACTGAAGAAGAAAAAGGAAAAACATGAGGTTTCTAAATATTAGAATTAGAGGTCATCTAGTTCATTCCTATAACTTTGGGAAGGGCTGCACTTAAAATGTTCCAAAAAGAGAAATGTCTACCTTTTTGTCATAAAATCCCAGGAAAGGACATAATCTAAGCCCACTTACTCTTGTTCTATGCGAATTATTTATAGTTTTGTTTATTCTATAACTAGTCAAAGGACAGTTGATTTGCTATTTCAACTAAGTCCTCAAGAGATATGAACAGATAGCAAAGAAAAACATCAGCCATTAGAGTTCATTTTCTTTTTTTTCCAGTCAGGGTCTCACTTTACCACCCAGGCTGAAGTGCAGTGGCATGATCATGGCTCACTAAAGCCTCAACCTTGTGGGCTTAAGTGATCCTCCCACCTCAGCTGCCCAAGTAGCTGGGACTAGAGGCACAAGGCACTATACCTGGCTAATTTTTTCGCTTTTTTTTTGTTTGTTTTCCACAGATGGGGTCTTGCTATATTGCCCAGGCTGGTCTTTAACTGCTGGCCTCAAGCAGTCCTCCCACCTCAGCCTCCCAAAGTATTGGGATTACAGGCATAAGCCACCACACCCAGCAACAGTTCATTCTCGAATAAAATCAATTCCATACCCTTAAGTGCAGAGAGAAATGGTGTCCAACTTCATTCCTTACATCTTAGTTCCTTACAACTGAAAATCAGTTAACTAGTGGGTTAGGAGTAGACTTAAGAATCAAAGAAATAGGTAATTTTCACATATCCTGGGCCGCCTTGGCTAGAAAAGGATACTCCAGGTCCACCTATATTTTTGCTTAGGGTTTCTAAGAGAGTACCAACCTCTTTTCATGGCACAAAAGACCAACACCATGCCTACCTTAAAACTGGCAGCTCTTAACTCCTTGTTAGCTGCCACCATGGATTATTTGGCCTATATTCCCAGCTTTAAATAGGGCTTCCAGAAACAGTGCTATTTGTGAACTGAGAGTTTGAGCAGGTAAGCTGAAGCTCTCACACAAGAGGAATAAACCACTAGCACCTTGAAACTGTCAAAATACCCTAAAAAATCACAATAAATGTAAAAGGTTTAGAGGGCACAGGAGACCTCAAAGATCTCCAAACCAACTAGGGCTTAGCTTAGGGGCCAAATACTATGAATGCATGATCTAGGGACTTTTCAGATACTTGCCTTCCTAGGAGTTTAGGGTGGCTGCTTTTGCTCCTTTCTTAACCACAAATCTTAGGACTGAAAGAGGTGAGGCACATGACCACAACAAATGTGACACAATGGGCAGAGATAAGGGAGAACCTTGGCTGAGAACCACAGAGGATTTGGATTGCACAAATTTTGGAGCAAGGTCTTACTTACCTTGTGGGACGCTCCCTTGTGCTGGGCCACACGTTTTGTATTCTTGCAACACTGTGTGGCAGACAGTTCTGCTACTCGAACCTGCCCGTCACGGGCACACATGGCCAGAGTAGAATCACCACTGTTAGGAAGAAACTTGGCCTGGGGTGTTAAAAATGAAAAAAAGGACACACAAAAGAAATGAGAGAGGTAAACTTGAGAATAAAAAATACGATGATGACCTCAACTTACCCCCTTTTCTTACATGACAGCTGGAAACTTAGCTTTCCTACTCTTGTACAGCTGGCTAAGCCCAATTTCTTCCAGGAGTTAAAGGAAAGGGAGAGAAAAAACTTCCTTTGATGTAAGAGAGCATTTCAGTTGGCTCTGGAAGATTGAACTGGCACATGATAAGAGCTCAGATGAACTAGGACTGTATCTAGCAGAGGAGAAAAGGAATAGAGGAGGAAAAATCTACTTTGATTAAGAAAGTAAATATAAATTTGCTACAAAGAAAAAGGAAAATAGGGGGAATGTCAGGGAAGAAAAGAGAACACCCTTAGGATAAATGGCTGGTACCAGTACAGTAGATGGGGCCAAGGAGTAA
Task1_train_1968
A variant on Chromosome 1 in gene PEX19 (peroxisomal biogenesis factor 19) has been observed. Is this a neutral mutation, or does it result in a disease? If so, which one?
Pathogenic; Peroxisome biogenesis disorder 12A (Zellweger)
CAGGTTCAAGTGATTCTCCTGCTGCCTCCTGAGTAGTTGCGATCACAGGCGTGAGCCACTACGCCAGGATAATTTTTGTATTTTTACTACAGACGGGGTTTCACCATGTTGGCCAGGCTGGTCTCGAACTCCTGACCTCAGGTGATCCACCCGCCTCGGCCTCCCAAGGTGCTGGGATTACAGGCATGAGCCACCATGCCCAGCCAAATTCTTGCTGGAGAAATGAAGTCAGAAATGCAAGATTGATCAGACAACAATCCCAGAGTCTTGAACCAGTTTATAGAAAACTAGAACTGAAGGATTTCCTCTTAGACCCCAAACGTTATACCTCTTATACCCCAACATACCGTGTGACAGCTTTATTCTCTCAGAGACACAACTCTCCCCAACCCCCAACTCTCCCTGCCTCAAATAAATAAAGAAGGAAAAAAAGCACACTCGAGTTACTCTTTCTGCAGGCTCTGAGTAGACAAAATAGCCCACATCAGTTGATGTGATGGAAAATGAAGAGAAAAAGCAGAAATGGAAGTTCACAAACCTTTTCTGTGATCTCCTTCAGTGATGGGTACAGCACATCCTTGGAGAGTAGGTTCTGCATAATACTCTGCATGATGGGGAGGATGTTCCCTTCCCCATCCCCTTCGTCCATGCCTAGCCCCTCCATGGCCTTGGTCAGCTCTTCTTCCGACATGCTGGAGTTCTAGATAGGACAAGTAAGAGGTGAGCAGGTATACTACCTTCTTGGGATGCTCACCACTCTCTCAGGTGACAAAGATAAACTATCTAAACTTGCCTGTAACAAACAATAAGACAGCAACAGACTTGGGATGATACTCAAAGCATCTGTCTTTTGAGACTCTGCTGGAGAAATGTCTGGGAGTGGACCCCTTGTGGGCCCCTACTACTTTCTCCTCACCTGAAGGTCAGTGGCATTTTTGGCTAATCCACTTAGTGTTTCCTTTAGGCAAGAAGTGAATTCTTGTTGGGAGGTCATATCACTGCCTAGGAGAGATTAAAAAAGCCAGCGTCATTTAGGAGTTTGTTTCCTTGCCTAGACTGAACTGGTTAACAGCTTGGATATGAAGCATTTACTAGTGAATCATTATCACTCCCAATCTTGGAAAACCCTATGGTTATCTTCATAGTCTTTTCATAAATCTATTTAGTACACGGACTCTGCATCAGTTTATTCTCCATGATGATACCCACAATAACACTGTGACCTTTCAAATGGTCAGTTTTGAATAATGTTTTCTATTACTTTCCAACCTATCTCACCCCTTTTCATTAACAGGGATTCCCATCCTTTCTCTCATTGCCTTTACCCGTTCCTTGGCTGTGACATCATGATTGCTATCAACTTCACTAAGAATTCTGGTGTTTTCAGGCAACAAAGACTTAAGAGTCTGTTCAGATATTTCCATGTATCTGGGGTCTCCTCACCCACTCTCCCTGCAGCCTCTGAGAGCTTTTGGAACTGCTCCACCAGGTGGGGTTCTTCCTCAGCCAACTCCTTCATTGCCTTCTCGAACTCCGCAGTGGCTTGGGAAGCCAGTTCACTGTCGAATAGTTCCTGGAAAAACTTCTCTTGGGAAGCGAAGAGGGCATCCTGCGGGGGAAGGATGGCTGAAATGCGTCTCTTACTTAGGACTACACTGCACCTGGCCTCTGATAGAAGCCACAGGCAGTGGCTATGGGAAATGCACCTCCCTCCTACCCAATTCCACTGGACATTCTAACTACTGCTCCTAATGAGGATAGCAAAAAAGGTATCTAGTCATTGAAGGAGGGTATGGGATGGCATACCAATCCAACCATTTAAACCTACTATTTTTTCAAGGAACTCTGAGATTCCCCCACTCAACCTCAAGTCCTTATTTCACAAGGACTGAGGCTGGCAAGAGCACTCACCAATGTGAGGCCAAGGTACCCTCCCACATTCCCCTCTGGCCCATAGGGGCCTGCCCAACCTCTGCTCAGGGCTGCATGCCCATCCCCTCCCCATCCCTTAAGGGGGTGGAATTTATACTTTGGCAGTGTCTCCTGGCGATCTCTTCTGGGGCCCCGAAGCATCAGGGGCCGTGGTGGTAGAAGGGGGTGCTGGGGAGGGTTTGGCTTTATCGAAATCATCAAGAGCACCTTCAGAGACAAGAGACATGGTGTGTGTGTTGGCGACAGATGAGAATGCAAGCAAGGCTGGGTGGTTTCTGGGCAAAGCATTAGGAATATGATTTTTCAAATTGCCAACTTTCCTCAATTTTCCTCCTTGAGTCCCCCACCTCCCCAGACCACCCTCAATGAGCCTCCTACTTCCTTCTGGATTACCTAATTTATTGTGAGCAAAGGCAAAGAAATCCCTTAAGGTGGAACAAATGTCCATCTCAGAGCTGGGAGGAGAGGATTAAAAAGTTCTGCAGAGACATCTCCATCTATAGTGTCTCCCTTGCCACACCCTAACGATTCCCTAGAAATCCCATACAAATACCCAACAGTAGTAGAGAACACAGATGTCCTCATCCCTCTGAACTCACTCTGGAGCTCTAAAAGGAATAACTTGGTGAGAAAGCACAGGACATCCCACCCAGCTTCCTGTTGGTACTGGTACCAGCACAGACTGAGGGACTACATACCAGACTCCATGGTACGGCATTAAACTATCTTCTCTTATTCTCCAGTTTAGTGCTCCCCAACAACCTTCTAGAGCTCCCTTTGGCCTGATCTCTGCAGATAACCGTACACTAATTTACACAGTCACTTGGCACTCCTCAGGGTTTCTGTTCATTTTTCTGCCTGCCCACATCTCCGTGATTGAGCAAGCGATTACAAATTCACCTCTGCCCTGAAAAGCCTGTGTCCTCACCACCATTCTGTTCGCCAGGCCTAGGGAGAGAGCACTGGCCCTACTCTGGGCAGGAAGTCAACAGGGGAGTGGAGAGTAATGCTAAGAAAACATCCCCCGTCTTTCAGGAGGGTGAACTGCTTTCCCCTGAAATCGCCACATCCTCAGTTTCTCAAAATAAGGGAAAGGAGTCCGCTTGAGCTACTGACAAGATGAAAGAACTGTTAAGGGGCCTAACGAGAGAAAGAGAAAAGGACTAGGAGGAGAAAAGTGTCTTTCGTGTTAAGGAAGACAGGACGAGGCACACAAGGACCGGCCACGAGCTTGCTAGGAGTTAATGTAAGCAATCAGTGAGTGCGTAGTTCGCTACCCAGCAAGAACCAAATGCTGCTGCTGCTGCTACTGCTGCTGAAGTCGAACTTTAAGAACTCAGTAACCTAAAGAGGAGTTTGAAGAGGTATCATGAAACGCCGTCCTGCGGAAACATCCACCATCCGGACCACTGAGGGACCCCAGGTGAGCTCCCCAGCTCCAGTCGCCGGGGTGGGGCAGGATGACCCAGAGATTTTTGGGGGGCTCGGGGGTCAGACTCTCCGCCCCCATTTAACCTTTGGAGAGCCTCTCCTGCCCGTCCCTAATATCTCAGGTTCACTTAACCCCCAGAATGGGTCCTCACACGTGCCCTCTTCGGGCCTTTCCCACTATGGGCTCTTACTTTCCAGAAGCTCCTCCAATTCCCTGTCCGCTTCGGCCCCGACACTACAGCCTTCCTCAGCGGCGGCCATCTTGCTACCTCCGACTTGCCGTAGGAGGCGGGACCTCCTCGGTGCCGACACGCCCTCCACCCCTTCGCTCCCGCCCTCTTCTGCCTCGGGTAACCAATGGTATTGTTGACCAGTGCGGAACCGCCATTTTTAAAGGGCCAGGAAGCTTTGAGTGTTTGTGTTTTGGGTATTTTTCCCTTTTCTCCTGTGAAACAGAATTAGGGATAAGATAGGGTTATTTTCTGTCTGGTTTTAGAGGCCCGGACTCCTTTCTTTCAACTTCCCAAATTACCTGGCGAAGCTCTTTCATTATTTTTTCCTGAGCTGTGAGTAGGCCAGATTGAGACAAACTGCCTACAAATAACCAGAATCTAAACATATATAATTGATATGACAATTATGGCACATAACATACTACTTTCTCTCACTTCATTTTTTTTTTTTTATTTTTTTTTGAGAAGGAATCTTGCTCTGTCGCCTACGCTGGAATGCA
CAGGTTCAAGTGATTCTCCTGCTGCCTCCTGAGTAGTTGCGATCACAGGCGTGAGCCACTACGCCAGGATAATTTTTGTATTTTTACTACAGACGGGGTTTCACCATGTTGGCCAGGCTGGTCTCGAACTCCTGACCTCAGGTGATCCACCCGCCTCGGCCTCCCAAGGTGCTGGGATTACAGGCATGAGCCACCATGCCCAGCCAAATTCTTGCTGGAGAAATGAAGTCAGAAATGCAAGATTGATCAGACAACAATCCCAGAGTCTTGAACCAGTTTATAGAAAACTAGAACTGAAGGATTTCCTCTTAGACCCCAAACGTTATACCTCTTATACCCCAACATACCGTGTGACAGCTTTATTCTCTCAGAGACACAACTCTCCCCAACCCCCAACTCTCCCTGCCTCAAATAAATAAAGAAGGAAAAAAAGCACACTCGAGTTACTCTTTCTGCAGGCTCTGAGTAGACAAAATAGCCCACATCAGTTGATGTGATGGAAAATGAAGAGAAAAAGCAGAAATGGAAGTTCACAAACCTTTTCTGTGATCTCCTTCAGTGATGGGTACAGCACATCCTTGGAGAGTAGGTTCTGCATAATACTCTGCATGATGGGGAGGATGTTCCCTTCCCCATCCCCTTCGTCCATGCCTAGCCCCTCCATGGCCTTGGTCAGCTCTTCTTCCGACATGCTGGAGTTCTAGATAGGACAAGTAAGAGGTGAGCAGGTATACTACCTTCTTGGGATGCTCACCACTCTCTCAGGTGACAAAGATAAACTATCTAAACTTGCCTGTAACAAACAATAAGACAGCAACAGACTTGGGATGATACTCAAAGCATCTGTCTTTTGAGACTCTGCTGGAGAAATGTCTGGGAGTGGACCCCTTGTGGGCCCCTACTACTTTCTCCTCACCTGAAGGTCAGTGGCATTTTTGGCTAATCCACTTAGTGTTTCCTTTAGGCAAGAAGTGAATTCTTGTTGGGAGGTCATATCACTGCCTAGGAGAGATTAAAAAAGCCAGCGTCATTTAGGAGTTTGTTTCCTTGCCTAGACTGAACTGGTTAACAGCTTGGATATGAAGCATTTACTAGTGAATCATTATCACTCCCAATCTTGGAAAACCCTATGGTTATCTTCATAGTCTTTTCATAAATCTATTTAGTACACGGACTCTGCATCAGTTTATTCTCCATGATGATACCCACAATAACACTGTGACCTTTCAAATGGTCAGTTTTGAATAATGTTTTCTATTACTTTCCAACCTATCTCACCCCTTTTCATTAACAGGGATTCCCATCCTTTCTCTCATTGCCTTTACCCGTTCCTTGGCTGTGACATCATGATTGCTATCAACTTCACTAAGAATTCTGGTGTTTTCAGGCAACAAAGACTTAAGAGTCTGTTCAGATATTTCCATGTATCTGGGGTCTCCTCACCCACTCTCCCTGCAGCCTCTGAGAGCTTTTGGAACTGCTCCACCAGGTGGGGTTCTTCCTCAGCCAACTCCTTCATTGCCTTCTCGAACTCCGCAGTGGCTTGGGAAGCCAGTTCACTGTCGAATAGTTCCTGGAAAAACTTCTCTTGGGAAGCGAAGAGGGCATCCTGCGGGGGAAGGATGGCTGAAATGCGTCTCTTACTTAGGACTACACTGCACCTGGCCTCTGATAGAAGCCACAGGCAGTGGCTATGGGAAATGCACCTCCCTCCTACCCAATTCCACTGGACATTCTAACTACTGCTCCTAATGAGGATAGCAAAAAAGGTATCTAGTCATTGAAGGAGGGTATGGGATGGCATACCAATCCAACCATTTAAACCTACTATTTTTTCAAGGAACTCTGAGATTCCCCCACTCAACCTCAAGTCCTTATTTCACAAGGACTGAGGCTGGCAAGAGCACTCACCAATGTGAGGCCAAGGTACCCTCCCACATTCCCCTCTGGCCCATAGGGGCCTGCCCAACCTCTGCTCAGGGCTGCATGCCCATCCCCTCCCCATCCCTTAAGGGGGTGGAATTTATACTTTGGCAGTGTCTCCTGGCAATCTCTTCTGGGGCCCCGAAGCATCAGGGGCCGTGGTGGTAGAAGGGGGTGCTGGGGAGGGTTTGGCTTTATCGAAATCATCAAGAGCACCTTCAGAGACAAGAGACATGGTGTGTGTGTTGGCGACAGATGAGAATGCAAGCAAGGCTGGGTGGTTTCTGGGCAAAGCATTAGGAATATGATTTTTCAAATTGCCAACTTTCCTCAATTTTCCTCCTTGAGTCCCCCACCTCCCCAGACCACCCTCAATGAGCCTCCTACTTCCTTCTGGATTACCTAATTTATTGTGAGCAAAGGCAAAGAAATCCCTTAAGGTGGAACAAATGTCCATCTCAGAGCTGGGAGGAGAGGATTAAAAAGTTCTGCAGAGACATCTCCATCTATAGTGTCTCCCTTGCCACACCCTAACGATTCCCTAGAAATCCCATACAAATACCCAACAGTAGTAGAGAACACAGATGTCCTCATCCCTCTGAACTCACTCTGGAGCTCTAAAAGGAATAACTTGGTGAGAAAGCACAGGACATCCCACCCAGCTTCCTGTTGGTACTGGTACCAGCACAGACTGAGGGACTACATACCAGACTCCATGGTACGGCATTAAACTATCTTCTCTTATTCTCCAGTTTAGTGCTCCCCAACAACCTTCTAGAGCTCCCTTTGGCCTGATCTCTGCAGATAACCGTACACTAATTTACACAGTCACTTGGCACTCCTCAGGGTTTCTGTTCATTTTTCTGCCTGCCCACATCTCCGTGATTGAGCAAGCGATTACAAATTCACCTCTGCCCTGAAAAGCCTGTGTCCTCACCACCATTCTGTTCGCCAGGCCTAGGGAGAGAGCACTGGCCCTACTCTGGGCAGGAAGTCAACAGGGGAGTGGAGAGTAATGCTAAGAAAACATCCCCCGTCTTTCAGGAGGGTGAACTGCTTTCCCCTGAAATCGCCACATCCTCAGTTTCTCAAAATAAGGGAAAGGAGTCCGCTTGAGCTACTGACAAGATGAAAGAACTGTTAAGGGGCCTAACGAGAGAAAGAGAAAAGGACTAGGAGGAGAAAAGTGTCTTTCGTGTTAAGGAAGACAGGACGAGGCACACAAGGACCGGCCACGAGCTTGCTAGGAGTTAATGTAAGCAATCAGTGAGTGCGTAGTTCGCTACCCAGCAAGAACCAAATGCTGCTGCTGCTGCTACTGCTGCTGAAGTCGAACTTTAAGAACTCAGTAACCTAAAGAGGAGTTTGAAGAGGTATCATGAAACGCCGTCCTGCGGAAACATCCACCATCCGGACCACTGAGGGACCCCAGGTGAGCTCCCCAGCTCCAGTCGCCGGGGTGGGGCAGGATGACCCAGAGATTTTTGGGGGGCTCGGGGGTCAGACTCTCCGCCCCCATTTAACCTTTGGAGAGCCTCTCCTGCCCGTCCCTAATATCTCAGGTTCACTTAACCCCCAGAATGGGTCCTCACACGTGCCCTCTTCGGGCCTTTCCCACTATGGGCTCTTACTTTCCAGAAGCTCCTCCAATTCCCTGTCCGCTTCGGCCCCGACACTACAGCCTTCCTCAGCGGCGGCCATCTTGCTACCTCCGACTTGCCGTAGGAGGCGGGACCTCCTCGGTGCCGACACGCCCTCCACCCCTTCGCTCCCGCCCTCTTCTGCCTCGGGTAACCAATGGTATTGTTGACCAGTGCGGAACCGCCATTTTTAAAGGGCCAGGAAGCTTTGAGTGTTTGTGTTTTGGGTATTTTTCCCTTTTCTCCTGTGAAACAGAATTAGGGATAAGATAGGGTTATTTTCTGTCTGGTTTTAGAGGCCCGGACTCCTTTCTTTCAACTTCCCAAATTACCTGGCGAAGCTCTTTCATTATTTTTTCCTGAGCTGTGAGTAGGCCAGATTGAGACAAACTGCCTACAAATAACCAGAATCTAAACATATATAATTGATATGACAATTATGGCACATAACATACTACTTTCTCTCACTTCATTTTTTTTTTTTTATTTTTTTTTGAGAAGGAATCTTGCTCTGTCGCCTACGCTGGAATGCA
Task1_train_1969
A variant affecting Chromosome 1, within the gene COPA (COPI coat complex subunit alpha), has been observed. Determine if it's benign or associated with disease.
Pathogenic; Autoimmune interstitial lung disease-arthritis syndrome
GAAAAAAACCTGGAAATTGGAGATACGTAAGGATGAAGATTATATCTGTAAGACAAGACACCTGAATGCATCCCTTATTTGCCTAAATTCTCACAATTCTTGGAATCTTTATTTAAATAATTCTCTGTGAATCCTTTCCTAATACTATTCACACTGCCACACTTAGTGTCACTATCCACACTGCCCTTTTCTGTGTTCCCCTAATGCTTTGTACAAACCTCCATTACAGTACTTATCATCCTGCACTGTAATCATTTAGGTCTATCACCCACATTGTAACATGAATTCCCTGAAGGCAGAAATTATAATTTCCATCCTTCCCCAGTCTCTAGCATATAAAAAGAGTATAAGAAGTATTTACTGAAAAAATGGATGTTAAAAACCCTTTGTGATTCTGTTTTTTAAAATGTTTTGCTCTTTCCCTACTAGCACCATCATCCCTTAGAAAACCCTTCCACTCTTGTTCTCCTACTGTCTGCTCTCCAAATATAAACCAGATCATGTCACTTTCCTGCCCAAAACCTTCCAATGGCTTTCCATGTATTCAGAATAAAATCTTAAGTTCTAACCATGGCATAGAAGGCAATACACGATCTGGCCAGACCTCACCTGTTACTCAGTCCCTTACTCACTGTGCTCCAACTGGCCTCTTTGGTGTTCCTTAGCATGTGATGGTGACATGCTAAGCACCTCTCACAACACAGTCTCTGCATTTGCTGTTCCCATTGCCTCATACCCTTTCACTTTTCTGAACCACCCAATATAAAGCAGCAGTCCCCATACTCATCTGTCTCTATCTGCCTTACCTTTAATTTTTCTTCAAAGCATTTTTCACCACACATCATTTTACGTACATATAAAGTGGAAGAAAAAAAGGAGAAAAGCTTCAACTAAGTGGCTCTGAGAGTCCTTCTTCTTCTTGTCATCCTACTATACATTTACTAGAGACAAAGCTAATAATCACTTTCAAGACTTATAAACTTTGAATTAAGCAAAGAAAAAAGAGAGAAAATGGCCCTTACCTGCTGCAAAGAGGTTAAGGTTAGGGTGAGCAGCTAGGACCCAGAAACGATCATGGTCTCTGCGGAAAGTCTGAACCCCAGTCCTAGAAAAGGTACACAAAAAGAAAAACATTAATTTCCTAGGAATCTTCAGCCCATCCTACACAAGAATATTAAATGGTAAGCCAGCAAGCTGATTAAAATGTAAATCAGGGAGAGTAAACTGCATATCCTAAGTAACAGTAGTCGTGATAAATTCTACCAAGGAACAAAAAGAGGAGACTTCAAAACTGACCATATTATTATGATATATAGATTTCCCCTTTTCAGCATAATTTTATGGCTTTCATTCTGCATTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTTGCCCAGGCTGGAGTGCAGTGGCGCGATCTCGGCTCACTGCAAGCTCCACCTCCCAGGTTCATGCCATTCTTCTGCCTCAGCCTCCTGAGTAGCTGGGACTACAGGCGCCCGCCACCACGCCCGGCTAATTTTTTGTATTTTTAGTAGAGACGGGGTTTCATTGTGTTAGCCAGGATGGTCTCAATCTCCTGACCTCGTGATCCACCCGCCTCAGCCTCCCAAGTGCTGGGATTACAGGCATGAGCCACCGCGCCCGGCCTCATTCCGCATTTCTTACTTCTCTAGCTACAGAACTGGGGAAAGGGGGAAGAAGAAAACATGTTTAAATTTAGAGGCAAAAAATAATATACATGGAGATTTCTATTTGATGGAAAATTTGTAAATGTTGACTGATCTCTAGGTCTCTTCAAATTTTCATAATATATGATTTGATTTGTCTACATGCTGAAGATGATGAGAGACATAAAGAAGTATTCCAATCTAATTTTAAAAGAGAGAGTAAGAGAAAGTTCACACAACACTGAGGACTACCTTACCGCTTAGACATATCCCAGACTCGAATACTCTTGTCCTCAGAATTGCTGAGGATCAACTCTTGGCGAGGGTGGAAGACGGCACAAGATACATTGTTGTAATGGCCCCGGCAGGTATCAACCTCCCATGCCTTTGATTCTGAAGGACAAAAAGAATTAGGTCATCACAATTCCCTACTACTATAACTTTAGGATTTGGAGATATGACATCCTCTTCATCAAGAACTAAGTACTATTACAGAATGCTAAATTGCCAACTTCTTTCTAATATGGCAATCTTCTTCATTTAAGTCTCTTAATCTTTACATGTCTTGGTTCTTTCATTCTGACCCTCTTATTGATTATAAAACCTCTTCTCTTGGCCAGACATGGTGGCTCACACCTGTAATCCCAGAACTTTGGGAGGCTAAGGTAGGGGGATCACTTGAGCCTAGGAGTTCGAGATCAGCCTGGGCAACATGGTAAAAAACCCCATCTCTACAAAAAATACAAAAATTAACTGGGTGTTGTGGCGCACGTTTGTAGTCCCAGCTACTCAGGAGGCTGAGGGGGAGGATCGCCCAAGCCCAAAAGGTCAAGACGGCAGTGAGCCGTGAATGCACCACCAAACTCCAGGCTGGGCAACAGAGCAAGACCCTGTCTCAAAAAAACAAACACCTCTTTTTCATCATTCTCCATCCCTTTATCCTGTTTTATCTGTCCTGATAACAACTGTCCTAGTTGGCCTTTCAATTTTTGTTATTTTTTCTTTTTTTCAGGGACCTGCCACTTTAGGAGTTGCCATTTTAGAACAAATATGAGCTCCTTCAGACAGGGGCCTTATCTGTTTTAGTCACCGCTGTATCTCCAGAGCCTTAAACAAAGTCTAGTACAAAGGAGGTACTCAATAAATATTTGTCAAATGAATGGATGAATTCTATGTTCATACTCCTCAAAATAAGGGTACCACCACAGGAAAAAAGGGAAAGAAGGAATACTTTCAGTTTCAAAACAGTGGTATAGAAGCAAGCTGGCTTCACTCCCCTCCACAGAAAACCCAAAACAAATATACAGTGCTGAGATTTTCATCAGCAACAACCCAGAACTCAAATATGACAATGAGACAGTTCCTGGGGCCACAGAGAGATGAAAAAACTCTGAGCAGATGGTAAGAGCATCTGATTTCCACATCTGCAATGGCCCTCCCCCAACTCATGGTTTCTACACTGGAAAAAGTGAGACTGAGGAGGTCAACTACCTTCCCCATCTTCCTGGGTGCCCTGGCAGGAGATCTAACCTTGACTTAACCCATGGGAAGCATCACGACTGCCTGAAAGGGGAAATATCCCTGAGGACAGGCAGAGAGAAAGCGGGGAGGCAAGACTATCACACCCAGCCCCAGAAACTCTGCTCTGTTACTTGGCCAAAGGAGATGCCAAATCAGAGTGGCTGCTCAGCAGCACTGCATTGCAGGAAGTATATTCCACAGGTCTGCCCATACACGAACCTCTAGCCAGCCTTGACACACAGCTGGGATAATCCCTTTGGGACCTCCCCATTCAGGACAGACAATGCTCTGGTCATTTACTAAAGCCAAGGTGAACCCGGACTTAAGGTGTCACCTAAAGCCAAAGAGGAGGAAGTGACCTAGCAGTACAGATTTGCTAAGCAAATATATCCAATAAAAACCAAAGCAAGCCAAACAGAGAAAACTGGAATAAGTAACTAATCTTTCAATACAAAGACATAGGTGTATACCCAAAATAAACAATAGCAAACAGGGAACCATAACCTCCCCACAAGGACAAAGCAAAAATACAATGACTGACCCTAAAATGACAGCAATTTGTGATCTCTGACCAAGAATTAAAACTGGTAGTTTAAAGGAAACCCTGTTATCGCCAAGAGATGGCTGAAAAACAATTAAGAAATTTACCAGAGAAGTTTAACAAAGAGATTGAAACAATGAAAACAAATCAAACAGAAATCTTGAAACAGAAACACATTTGCTGAAATGAAGAGCTCATTAGAGACTCTGAATAGCAGACTGGACCAAGTGGAGGAAAAAAATCAGTGAGCTCGAAGACTGGCTGTTTGAAAAATACACAGTCAGGCTGGGCATGGTGGCTCACACCTATAATCCCAGCACTTTGGGAGGCCGAGGTGGGTGGATCACAAGGTCAGGAGTTCGAG
GAAAAAAACCTGGAAATTGGAGATACGTAAGGATGAAGATTATATCTGTAAGACAAGACACCTGAATGCATCCCTTATTTGCCTAAATTCTCACAATTCTTGGAATCTTTATTTAAATAATTCTCTGTGAATCCTTTCCTAATACTATTCACACTGCCACACTTAGTGTCACTATCCACACTGCCCTTTTCTGTGTTCCCCTAATGCTTTGTACAAACCTCCATTACAGTACTTATCATCCTGCACTGTAATCATTTAGGTCTATCACCCACATTGTAACATGAATTCCCTGAAGGCAGAAATTATAATTTCCATCCTTCCCCAGTCTCTAGCATATAAAAAGAGTATAAGAAGTATTTACTGAAAAAATGGATGTTAAAAACCCTTTGTGATTCTGTTTTTTAAAATGTTTTGCTCTTTCCCTACTAGCACCATCATCCCTTAGAAAACCCTTCCACTCTTGTTCTCCTACTGTCTGCTCTCCAAATATAAACCAGATCATGTCACTTTCCTGCCCAAAACCTTCCAATGGCTTTCCATGTATTCAGAATAAAATCTTAAGTTCTAACCATGGCATAGAAGGCAATACACGATCTGGCCAGACCTCACCTGTTACTCAGTCCCTTACTCACTGTGCTCCAACTGGCCTCTTTGGTGTTCCTTAGCATGTGATGGTGACATGCTAAGCACCTCTCACAACACAGTCTCTGCATTTGCTGTTCCCATTGCCTCATACCCTTTCACTTTTCTGAACCACCCAATATAAAGCAGCAGTCCCCATACTCATCTGTCTCTATCTGCCTTACCTTTAATTTTTCTTCAAAGCATTTTTCACCACACATCATTTTACGTACATATAAAGTGGAAGAAAAAAAGGAGAAAAGCTTCAACTAAGTGGCTCTGAGAGTCCTTCTTCTTCTTGTCATCCTACTATACATTTACTAGAGACAAAGCTAATAATCACTTTCAAGACTTATAAACTTTGAATTAAGCAAAGAAAAAAGAGAGAAAATGGCCCTTACCTGCTGCAAAGAGGTTAAGGTTAGGGTGAGCAGCTAGGACCCAGAAACGATCATGGTCTCTGCGGAAAGTCTGAACCCCAGTCCTAGAAAAGGTACACAAAAAGAAAAACATTAATTTCCTAGGAATCTTCAGCCCATCCTACACAAGAATATTAAATGGTAAGCCAGCAAGCTGATTAAAATGTAAATCAGGGAGAGTAAACTGCATATCCTAAGTAACAGTAGTCGTGATAAATTCTACCAAGGAACAAAAAGAGGAGACTTCAAAACTGACCATATTATTATGATATATAGATTTCCCCTTTTCAGCATAATTTTATGGCTTTCATTCTGCATTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTTGCCCAGGCTGGAGTGCAGTGGCGCGATCTCGGCTCACTGCAAGCTCCACCTCCCAGGTTCATGCCATTCTTCTGCCTCAGCCTCCTGAGTAGCTGGGACTACAGGCGCCCGCCACCACGCCCGGCTAATTTTTTGTATTTTTAGTAGAGACGGGGTTTCATTGTGTTAGCCAGGATGGTCTCAATCTCCTGACCTCGTGATCCACCCGCCTCAGCCTCCCAAGTGCTGGGATTACAGGCATGAGCCACCGCGCCCGGCCTCATTCCGCATTTCTTACTTCTCTAGCTACAGAACTGGGGAAAGGGGGAAGAAGAAAACATGTTTAAATTTAGAGGCAAAAAATAATATACATGGAGATTTCTATTTGATGGAAAATTTGTAAATGTTGACTGATCTCTAGGTCTCTTCAAATTTTCATAATATATGATTTGATTTGTCTACATGCTGAAGATGATGAGAGACATAAAGAAGTATTCCAATCTAATTTTAAAAGAGAGAGTAAGAGAAAGTTCACACAACACTGAGGACTACCTTACCGCTTAGACATATCCCAGACTCGAATACTCTTGTCCTCAGAATTGCTGAGGATCAACTCTTGGCGAGGGTGGAAGACGGCACAAGATACATTGTTGTAATGGCCCCGGCAGGTATCAACCTTCCATGCCTTTGATTCTGAAGGACAAAAAGAATTAGGTCATCACAATTCCCTACTACTATAACTTTAGGATTTGGAGATATGACATCCTCTTCATCAAGAACTAAGTACTATTACAGAATGCTAAATTGCCAACTTCTTTCTAATATGGCAATCTTCTTCATTTAAGTCTCTTAATCTTTACATGTCTTGGTTCTTTCATTCTGACCCTCTTATTGATTATAAAACCTCTTCTCTTGGCCAGACATGGTGGCTCACACCTGTAATCCCAGAACTTTGGGAGGCTAAGGTAGGGGGATCACTTGAGCCTAGGAGTTCGAGATCAGCCTGGGCAACATGGTAAAAAACCCCATCTCTACAAAAAATACAAAAATTAACTGGGTGTTGTGGCGCACGTTTGTAGTCCCAGCTACTCAGGAGGCTGAGGGGGAGGATCGCCCAAGCCCAAAAGGTCAAGACGGCAGTGAGCCGTGAATGCACCACCAAACTCCAGGCTGGGCAACAGAGCAAGACCCTGTCTCAAAAAAACAAACACCTCTTTTTCATCATTCTCCATCCCTTTATCCTGTTTTATCTGTCCTGATAACAACTGTCCTAGTTGGCCTTTCAATTTTTGTTATTTTTTCTTTTTTTCAGGGACCTGCCACTTTAGGAGTTGCCATTTTAGAACAAATATGAGCTCCTTCAGACAGGGGCCTTATCTGTTTTAGTCACCGCTGTATCTCCAGAGCCTTAAACAAAGTCTAGTACAAAGGAGGTACTCAATAAATATTTGTCAAATGAATGGATGAATTCTATGTTCATACTCCTCAAAATAAGGGTACCACCACAGGAAAAAAGGGAAAGAAGGAATACTTTCAGTTTCAAAACAGTGGTATAGAAGCAAGCTGGCTTCACTCCCCTCCACAGAAAACCCAAAACAAATATACAGTGCTGAGATTTTCATCAGCAACAACCCAGAACTCAAATATGACAATGAGACAGTTCCTGGGGCCACAGAGAGATGAAAAAACTCTGAGCAGATGGTAAGAGCATCTGATTTCCACATCTGCAATGGCCCTCCCCCAACTCATGGTTTCTACACTGGAAAAAGTGAGACTGAGGAGGTCAACTACCTTCCCCATCTTCCTGGGTGCCCTGGCAGGAGATCTAACCTTGACTTAACCCATGGGAAGCATCACGACTGCCTGAAAGGGGAAATATCCCTGAGGACAGGCAGAGAGAAAGCGGGGAGGCAAGACTATCACACCCAGCCCCAGAAACTCTGCTCTGTTACTTGGCCAAAGGAGATGCCAAATCAGAGTGGCTGCTCAGCAGCACTGCATTGCAGGAAGTATATTCCACAGGTCTGCCCATACACGAACCTCTAGCCAGCCTTGACACACAGCTGGGATAATCCCTTTGGGACCTCCCCATTCAGGACAGACAATGCTCTGGTCATTTACTAAAGCCAAGGTGAACCCGGACTTAAGGTGTCACCTAAAGCCAAAGAGGAGGAAGTGACCTAGCAGTACAGATTTGCTAAGCAAATATATCCAATAAAAACCAAAGCAAGCCAAACAGAGAAAACTGGAATAAGTAACTAATCTTTCAATACAAAGACATAGGTGTATACCCAAAATAAACAATAGCAAACAGGGAACCATAACCTCCCCACAAGGACAAAGCAAAAATACAATGACTGACCCTAAAATGACAGCAATTTGTGATCTCTGACCAAGAATTAAAACTGGTAGTTTAAAGGAAACCCTGTTATCGCCAAGAGATGGCTGAAAAACAATTAAGAAATTTACCAGAGAAGTTTAACAAAGAGATTGAAACAATGAAAACAAATCAAACAGAAATCTTGAAACAGAAACACATTTGCTGAAATGAAGAGCTCATTAGAGACTCTGAATAGCAGACTGGACCAAGTGGAGGAAAAAAATCAGTGAGCTCGAAGACTGGCTGTTTGAAAAATACACAGTCAGGCTGGGCATGGTGGCTCACACCTATAATCCCAGCACTTTGGGAGGCCGAGGTGGGTGGATCACAAGGTCAGGAGTTCGAG
Task1_train_1970
Mutation context: Chromosome 1, Gene COPA (COPI coat complex subunit alpha). Determine if this variant is likely to be benign or pathogenic. Mention the disease if applicable.
Pathogenic; not provided
AAAAACCTGGAAATTGGAGATACGTAAGGATGAAGATTATATCTGTAAGACAAGACACCTGAATGCATCCCTTATTTGCCTAAATTCTCACAATTCTTGGAATCTTTATTTAAATAATTCTCTGTGAATCCTTTCCTAATACTATTCACACTGCCACACTTAGTGTCACTATCCACACTGCCCTTTTCTGTGTTCCCCTAATGCTTTGTACAAACCTCCATTACAGTACTTATCATCCTGCACTGTAATCATTTAGGTCTATCACCCACATTGTAACATGAATTCCCTGAAGGCAGAAATTATAATTTCCATCCTTCCCCAGTCTCTAGCATATAAAAAGAGTATAAGAAGTATTTACTGAAAAAATGGATGTTAAAAACCCTTTGTGATTCTGTTTTTTAAAATGTTTTGCTCTTTCCCTACTAGCACCATCATCCCTTAGAAAACCCTTCCACTCTTGTTCTCCTACTGTCTGCTCTCCAAATATAAACCAGATCATGTCACTTTCCTGCCCAAAACCTTCCAATGGCTTTCCATGTATTCAGAATAAAATCTTAAGTTCTAACCATGGCATAGAAGGCAATACACGATCTGGCCAGACCTCACCTGTTACTCAGTCCCTTACTCACTGTGCTCCAACTGGCCTCTTTGGTGTTCCTTAGCATGTGATGGTGACATGCTAAGCACCTCTCACAACACAGTCTCTGCATTTGCTGTTCCCATTGCCTCATACCCTTTCACTTTTCTGAACCACCCAATATAAAGCAGCAGTCCCCATACTCATCTGTCTCTATCTGCCTTACCTTTAATTTTTCTTCAAAGCATTTTTCACCACACATCATTTTACGTACATATAAAGTGGAAGAAAAAAAGGAGAAAAGCTTCAACTAAGTGGCTCTGAGAGTCCTTCTTCTTCTTGTCATCCTACTATACATTTACTAGAGACAAAGCTAATAATCACTTTCAAGACTTATAAACTTTGAATTAAGCAAAGAAAAAAGAGAGAAAATGGCCCTTACCTGCTGCAAAGAGGTTAAGGTTAGGGTGAGCAGCTAGGACCCAGAAACGATCATGGTCTCTGCGGAAAGTCTGAACCCCAGTCCTAGAAAAGGTACACAAAAAGAAAAACATTAATTTCCTAGGAATCTTCAGCCCATCCTACACAAGAATATTAAATGGTAAGCCAGCAAGCTGATTAAAATGTAAATCAGGGAGAGTAAACTGCATATCCTAAGTAACAGTAGTCGTGATAAATTCTACCAAGGAACAAAAAGAGGAGACTTCAAAACTGACCATATTATTATGATATATAGATTTCCCCTTTTCAGCATAATTTTATGGCTTTCATTCTGCATTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTTGCCCAGGCTGGAGTGCAGTGGCGCGATCTCGGCTCACTGCAAGCTCCACCTCCCAGGTTCATGCCATTCTTCTGCCTCAGCCTCCTGAGTAGCTGGGACTACAGGCGCCCGCCACCACGCCCGGCTAATTTTTTGTATTTTTAGTAGAGACGGGGTTTCATTGTGTTAGCCAGGATGGTCTCAATCTCCTGACCTCGTGATCCACCCGCCTCAGCCTCCCAAGTGCTGGGATTACAGGCATGAGCCACCGCGCCCGGCCTCATTCCGCATTTCTTACTTCTCTAGCTACAGAACTGGGGAAAGGGGGAAGAAGAAAACATGTTTAAATTTAGAGGCAAAAAATAATATACATGGAGATTTCTATTTGATGGAAAATTTGTAAATGTTGACTGATCTCTAGGTCTCTTCAAATTTTCATAATATATGATTTGATTTGTCTACATGCTGAAGATGATGAGAGACATAAAGAAGTATTCCAATCTAATTTTAAAAGAGAGAGTAAGAGAAAGTTCACACAACACTGAGGACTACCTTACCGCTTAGACATATCCCAGACTCGAATACTCTTGTCCTCAGAATTGCTGAGGATCAACTCTTGGCGAGGGTGGAAGACGGCACAAGATACATTGTTGTAATGGCCCCGGCAGGTATCAACCTCCCATGCCTTTGATTCTGAAGGACAAAAAGAATTAGGTCATCACAATTCCCTACTACTATAACTTTAGGATTTGGAGATATGACATCCTCTTCATCAAGAACTAAGTACTATTACAGAATGCTAAATTGCCAACTTCTTTCTAATATGGCAATCTTCTTCATTTAAGTCTCTTAATCTTTACATGTCTTGGTTCTTTCATTCTGACCCTCTTATTGATTATAAAACCTCTTCTCTTGGCCAGACATGGTGGCTCACACCTGTAATCCCAGAACTTTGGGAGGCTAAGGTAGGGGGATCACTTGAGCCTAGGAGTTCGAGATCAGCCTGGGCAACATGGTAAAAAACCCCATCTCTACAAAAAATACAAAAATTAACTGGGTGTTGTGGCGCACGTTTGTAGTCCCAGCTACTCAGGAGGCTGAGGGGGAGGATCGCCCAAGCCCAAAAGGTCAAGACGGCAGTGAGCCGTGAATGCACCACCAAACTCCAGGCTGGGCAACAGAGCAAGACCCTGTCTCAAAAAAACAAACACCTCTTTTTCATCATTCTCCATCCCTTTATCCTGTTTTATCTGTCCTGATAACAACTGTCCTAGTTGGCCTTTCAATTTTTGTTATTTTTTCTTTTTTTCAGGGACCTGCCACTTTAGGAGTTGCCATTTTAGAACAAATATGAGCTCCTTCAGACAGGGGCCTTATCTGTTTTAGTCACCGCTGTATCTCCAGAGCCTTAAACAAAGTCTAGTACAAAGGAGGTACTCAATAAATATTTGTCAAATGAATGGATGAATTCTATGTTCATACTCCTCAAAATAAGGGTACCACCACAGGAAAAAAGGGAAAGAAGGAATACTTTCAGTTTCAAAACAGTGGTATAGAAGCAAGCTGGCTTCACTCCCCTCCACAGAAAACCCAAAACAAATATACAGTGCTGAGATTTTCATCAGCAACAACCCAGAACTCAAATATGACAATGAGACAGTTCCTGGGGCCACAGAGAGATGAAAAAACTCTGAGCAGATGGTAAGAGCATCTGATTTCCACATCTGCAATGGCCCTCCCCCAACTCATGGTTTCTACACTGGAAAAAGTGAGACTGAGGAGGTCAACTACCTTCCCCATCTTCCTGGGTGCCCTGGCAGGAGATCTAACCTTGACTTAACCCATGGGAAGCATCACGACTGCCTGAAAGGGGAAATATCCCTGAGGACAGGCAGAGAGAAAGCGGGGAGGCAAGACTATCACACCCAGCCCCAGAAACTCTGCTCTGTTACTTGGCCAAAGGAGATGCCAAATCAGAGTGGCTGCTCAGCAGCACTGCATTGCAGGAAGTATATTCCACAGGTCTGCCCATACACGAACCTCTAGCCAGCCTTGACACACAGCTGGGATAATCCCTTTGGGACCTCCCCATTCAGGACAGACAATGCTCTGGTCATTTACTAAAGCCAAGGTGAACCCGGACTTAAGGTGTCACCTAAAGCCAAAGAGGAGGAAGTGACCTAGCAGTACAGATTTGCTAAGCAAATATATCCAATAAAAACCAAAGCAAGCCAAACAGAGAAAACTGGAATAAGTAACTAATCTTTCAATACAAAGACATAGGTGTATACCCAAAATAAACAATAGCAAACAGGGAACCATAACCTCCCCACAAGGACAAAGCAAAAATACAATGACTGACCCTAAAATGACAGCAATTTGTGATCTCTGACCAAGAATTAAAACTGGTAGTTTAAAGGAAACCCTGTTATCGCCAAGAGATGGCTGAAAAACAATTAAGAAATTTACCAGAGAAGTTTAACAAAGAGATTGAAACAATGAAAACAAATCAAACAGAAATCTTGAAACAGAAACACATTTGCTGAAATGAAGAGCTCATTAGAGACTCTGAATAGCAGACTGGACCAAGTGGAGGAAAAAAATCAGTGAGCTCGAAGACTGGCTGTTTGAAAAATACACAGTCAGGCTGGGCATGGTGGCTCACACCTATAATCCCAGCACTTTGGGAGGCCGAGGTGGGTGGATCACAAGGTCAGGAGTTCGAGACC
AAAAACCTGGAAATTGGAGATACGTAAGGATGAAGATTATATCTGTAAGACAAGACACCTGAATGCATCCCTTATTTGCCTAAATTCTCACAATTCTTGGAATCTTTATTTAAATAATTCTCTGTGAATCCTTTCCTAATACTATTCACACTGCCACACTTAGTGTCACTATCCACACTGCCCTTTTCTGTGTTCCCCTAATGCTTTGTACAAACCTCCATTACAGTACTTATCATCCTGCACTGTAATCATTTAGGTCTATCACCCACATTGTAACATGAATTCCCTGAAGGCAGAAATTATAATTTCCATCCTTCCCCAGTCTCTAGCATATAAAAAGAGTATAAGAAGTATTTACTGAAAAAATGGATGTTAAAAACCCTTTGTGATTCTGTTTTTTAAAATGTTTTGCTCTTTCCCTACTAGCACCATCATCCCTTAGAAAACCCTTCCACTCTTGTTCTCCTACTGTCTGCTCTCCAAATATAAACCAGATCATGTCACTTTCCTGCCCAAAACCTTCCAATGGCTTTCCATGTATTCAGAATAAAATCTTAAGTTCTAACCATGGCATAGAAGGCAATACACGATCTGGCCAGACCTCACCTGTTACTCAGTCCCTTACTCACTGTGCTCCAACTGGCCTCTTTGGTGTTCCTTAGCATGTGATGGTGACATGCTAAGCACCTCTCACAACACAGTCTCTGCATTTGCTGTTCCCATTGCCTCATACCCTTTCACTTTTCTGAACCACCCAATATAAAGCAGCAGTCCCCATACTCATCTGTCTCTATCTGCCTTACCTTTAATTTTTCTTCAAAGCATTTTTCACCACACATCATTTTACGTACATATAAAGTGGAAGAAAAAAAGGAGAAAAGCTTCAACTAAGTGGCTCTGAGAGTCCTTCTTCTTCTTGTCATCCTACTATACATTTACTAGAGACAAAGCTAATAATCACTTTCAAGACTTATAAACTTTGAATTAAGCAAAGAAAAAAGAGAGAAAATGGCCCTTACCTGCTGCAAAGAGGTTAAGGTTAGGGTGAGCAGCTAGGACCCAGAAACGATCATGGTCTCTGCGGAAAGTCTGAACCCCAGTCCTAGAAAAGGTACACAAAAAGAAAAACATTAATTTCCTAGGAATCTTCAGCCCATCCTACACAAGAATATTAAATGGTAAGCCAGCAAGCTGATTAAAATGTAAATCAGGGAGAGTAAACTGCATATCCTAAGTAACAGTAGTCGTGATAAATTCTACCAAGGAACAAAAAGAGGAGACTTCAAAACTGACCATATTATTATGATATATAGATTTCCCCTTTTCAGCATAATTTTATGGCTTTCATTCTGCATTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTTGCCCAGGCTGGAGTGCAGTGGCGCGATCTCGGCTCACTGCAAGCTCCACCTCCCAGGTTCATGCCATTCTTCTGCCTCAGCCTCCTGAGTAGCTGGGACTACAGGCGCCCGCCACCACGCCCGGCTAATTTTTTGTATTTTTAGTAGAGACGGGGTTTCATTGTGTTAGCCAGGATGGTCTCAATCTCCTGACCTCGTGATCCACCCGCCTCAGCCTCCCAAGTGCTGGGATTACAGGCATGAGCCACCGCGCCCGGCCTCATTCCGCATTTCTTACTTCTCTAGCTACAGAACTGGGGAAAGGGGGAAGAAGAAAACATGTTTAAATTTAGAGGCAAAAAATAATATACATGGAGATTTCTATTTGATGGAAAATTTGTAAATGTTGACTGATCTCTAGGTCTCTTCAAATTTTCATAATATATGATTTGATTTGTCTACATGCTGAAGATGATGAGAGACATAAAGAAGTATTCCAATCTAATTTTAAAAGAGAGAGTAAGAGAAAGTTCACACAACACTGAGGACTACCTTACCGCTTAGACATATCCCAGACTCGAATACTCTTGTCCTCAGAATTGCTGAGGATCAACTCTTGGCGAGGGTGGAAGACGGCACAAGATACATTGTTGTAATGGCCCCGGCAGGTATCAACCTCCCGTGCCTTTGATTCTGAAGGACAAAAAGAATTAGGTCATCACAATTCCCTACTACTATAACTTTAGGATTTGGAGATATGACATCCTCTTCATCAAGAACTAAGTACTATTACAGAATGCTAAATTGCCAACTTCTTTCTAATATGGCAATCTTCTTCATTTAAGTCTCTTAATCTTTACATGTCTTGGTTCTTTCATTCTGACCCTCTTATTGATTATAAAACCTCTTCTCTTGGCCAGACATGGTGGCTCACACCTGTAATCCCAGAACTTTGGGAGGCTAAGGTAGGGGGATCACTTGAGCCTAGGAGTTCGAGATCAGCCTGGGCAACATGGTAAAAAACCCCATCTCTACAAAAAATACAAAAATTAACTGGGTGTTGTGGCGCACGTTTGTAGTCCCAGCTACTCAGGAGGCTGAGGGGGAGGATCGCCCAAGCCCAAAAGGTCAAGACGGCAGTGAGCCGTGAATGCACCACCAAACTCCAGGCTGGGCAACAGAGCAAGACCCTGTCTCAAAAAAACAAACACCTCTTTTTCATCATTCTCCATCCCTTTATCCTGTTTTATCTGTCCTGATAACAACTGTCCTAGTTGGCCTTTCAATTTTTGTTATTTTTTCTTTTTTTCAGGGACCTGCCACTTTAGGAGTTGCCATTTTAGAACAAATATGAGCTCCTTCAGACAGGGGCCTTATCTGTTTTAGTCACCGCTGTATCTCCAGAGCCTTAAACAAAGTCTAGTACAAAGGAGGTACTCAATAAATATTTGTCAAATGAATGGATGAATTCTATGTTCATACTCCTCAAAATAAGGGTACCACCACAGGAAAAAAGGGAAAGAAGGAATACTTTCAGTTTCAAAACAGTGGTATAGAAGCAAGCTGGCTTCACTCCCCTCCACAGAAAACCCAAAACAAATATACAGTGCTGAGATTTTCATCAGCAACAACCCAGAACTCAAATATGACAATGAGACAGTTCCTGGGGCCACAGAGAGATGAAAAAACTCTGAGCAGATGGTAAGAGCATCTGATTTCCACATCTGCAATGGCCCTCCCCCAACTCATGGTTTCTACACTGGAAAAAGTGAGACTGAGGAGGTCAACTACCTTCCCCATCTTCCTGGGTGCCCTGGCAGGAGATCTAACCTTGACTTAACCCATGGGAAGCATCACGACTGCCTGAAAGGGGAAATATCCCTGAGGACAGGCAGAGAGAAAGCGGGGAGGCAAGACTATCACACCCAGCCCCAGAAACTCTGCTCTGTTACTTGGCCAAAGGAGATGCCAAATCAGAGTGGCTGCTCAGCAGCACTGCATTGCAGGAAGTATATTCCACAGGTCTGCCCATACACGAACCTCTAGCCAGCCTTGACACACAGCTGGGATAATCCCTTTGGGACCTCCCCATTCAGGACAGACAATGCTCTGGTCATTTACTAAAGCCAAGGTGAACCCGGACTTAAGGTGTCACCTAAAGCCAAAGAGGAGGAAGTGACCTAGCAGTACAGATTTGCTAAGCAAATATATCCAATAAAAACCAAAGCAAGCCAAACAGAGAAAACTGGAATAAGTAACTAATCTTTCAATACAAAGACATAGGTGTATACCCAAAATAAACAATAGCAAACAGGGAACCATAACCTCCCCACAAGGACAAAGCAAAAATACAATGACTGACCCTAAAATGACAGCAATTTGTGATCTCTGACCAAGAATTAAAACTGGTAGTTTAAAGGAAACCCTGTTATCGCCAAGAGATGGCTGAAAAACAATTAAGAAATTTACCAGAGAAGTTTAACAAAGAGATTGAAACAATGAAAACAAATCAAACAGAAATCTTGAAACAGAAACACATTTGCTGAAATGAAGAGCTCATTAGAGACTCTGAATAGCAGACTGGACCAAGTGGAGGAAAAAAATCAGTGAGCTCGAAGACTGGCTGTTTGAAAAATACACAGTCAGGCTGGGCATGGTGGCTCACACCTATAATCCCAGCACTTTGGGAGGCCGAGGTGGGTGGATCACAAGGTCAGGAGTTCGAGACC
Task1_train_1971
This genomic variant is located on Chromosome 1, within the COPA (COPI coat complex subunit alpha) gene. Can you determine its pathogenicity and name any linked disease?
Pathogenic; Autoimmune interstitial lung disease-arthritis syndrome
TACCCTTGTTCACAGATGACATTATCATATACTTAGAAAAACCTAAGACTCAACCAAAATGATAAATTCAGTCCAGCTGCGGGATACAAAATCAACATACAAAAATCAGTAGCATGACCAGGTGCAGTGGCTCATGCCTATAAACCCAGCACTTTGGGAGGCCAAGGTGGGCAGATCACTTGAGGTCAAGAGTTCGAGACCAGCTTGGCCAACATGGTGAAACCTCGTCTCTAAAAAAAGTACAAAAATTAGCCAGGTGTGGTGGTGTGCACCTGTAGTCCCAGCTACTCGAGACGCTGAAGTATGAGAATCACTTGAACCTGGGAGGGGGAGGTTTCAGTAAGCCAAGATCGAGCCACTGTACTCCAGCCTGGGCAATAGAGCGAGATCCTGTCTCAAAATATCAGTAGCATTTATATATGCCAATAGTGAATAATCTGAAAAAAAATCAAGAAATCCCATTTATAGTAACTACAAAAAATATAAAATGCCCAGGAATCACTCTAACCAAAGAAGTGAAAGGGCCATACAAGGAAAACTATAAAACTCTGATGAAAAAAGTTGAAGAGGACCCCCAAAAATGGAAAGATAGTCCATGCTTGTGGGTTGAAAGAATATTGTAAAAATGATAGGGTAAATTACTACCTAAAGTAATTTACAGATTTATTGTATTCCCCATCAAAATATCAAAGACATTCTTCACAGAAACAGAAAAAAAATCCTAAAATTTATATGGCAGCACAAAAGACCCCAAATAGCCAAAGCAATTCTGAGCAAAAAGAACAAAGATGGAGGCATCACACTACCTGACTTCAAAATTTGCTACAAAGCTAGAGTAACCAAAACACTGTGGTACTGGCACAGAAACAGACACATAAACCAATGGAACAGAACAGAGGACCCAGATATAAATCCACAAATCTATAGCTAACTCATGTTTAACAAAGGTGCCAAGAACATACAATAAAGTGTTGGGAAAACTGGGTAACTATATGCAGAAGAATGAAACTCCTATCTCTCACCACACACAAAAATCAAATCAAAAAAGGATTAAAGACTTAAATCTAAGACCAGAAACTATGAAACTACTAGAAGAAAACATTGGGGAAATGTCCCAGGACATTGTCTGGGCAAAATGCTCATCAATAATTATCAGAGAAATGCAAATCAATGTGTCCTTAACACAGAGGCTGAAATATATATACATATATATAGAAAAAAAGACATGCGAATCAAATCCACAATGAGATATCATTTCACCACAGGTAAAATGGCTTGTATCAAAAAGACAGGCAATAACAGATGCTGGCAAGGGTATGGAGAAAGGGGAACCCTCCTGCACTGTTGGTGGGAATGTAAATTAGTATAGTCACAATGGAGAATAGTATGGAGGTTCCTCAAAAAACTAAAAATAGAACTAACATATTATCCAGCAATTCCACTACTGGCTATATATCCAAATAAAGGAAATAAATATATCAAAGCGGTATCTGCATCCCCATGTTTGTTTATTGCAGCACTATTTACAATAGCCAAAATACGGAATCAACTTAAGTGCTCATCAAGGGATGAATAAAGAAAATTACATACGCGCACGTGCACACACACACACACACACACACACACAATGGAATATTATTCAGCTATAAAAAAGAATGAAATCCTGTTATTTGCAGCAAAATGGATGGAACTGGAGGCCATTATGTTAAGGGAAGAACAAAGAGACAAATATGGCATGTTCTCACTCACATGTGGAAGCTAAAAAGTGGATATTATTAAGATCGAGAGTAGAATGGGAAGGAGGGTGAAGGAGGAAATGGAGGAAAACAGAATATAAATATATTTATTACCACTTAACTGTACACATAAAAATTGTAAAGATGATATATTTTATTTGTAAAATAATTTCTATGCTCCTGGGATTAGCATTAATTAATCACCTAAGGTAGAAAAATAGGTCAGAGTCCAGAAGACCTGGCTACTTTACCTTGCTGGCTGGCAGTTTCTTAGATATGGCGATAATGTAACCGGTTCACTCACCATTCATGCGCCAGATCTTCACTTGACGATCATCTGCCCCAGATACAATAAGGGGCATAGTGGGGTGGAAGGCAGCCCAGTTTACTCCACGATCGTGACCCTGTAGAAAAGAGTGGTTCTTCTAAAACATCTTTATAGTCATTACTCAAAGCAAACCAATGAATCAAGCTACTCGTTGTAAAAAATGTCTCTGATTTATTCTTCATGTGAACAGATTCAAGAGACTACGCTGCTCTAAAATTTTGAGCATCAGAATTACCATGTCTGTCCTCCAATATTACCCCAAATTCTCATGTGAATTTCCAAATACATATTTCTAACCCCTAAACTCAGCCTCATTTGCATTTAGGATATTCTGCTTTGTTTTTTACTTGCCTATTTTTATCTTATTTCTACAAATAATTATTAATATCTCCAGACAAATTTTATTTTTTATTTTTTATTGTTTTTAGACGGAGTCTCGCTCTGTCACCCAGGCTGGAGTGCAGTGGCACGATCTCAGCTCACTGCAACCTCTGCCTCCCGGGTTCAAGTAATTCTCTGCCTCAGCCTCCCAAGTAGCTGGGATTACAGGCACCCACCACCATACCCGGCTAATTTTTTTGTATTTTTAGTAGAGATGGGGTTTCACCATCTTGGCCAGGCTGGTCTTGAACTCCCGGCCTCATGATTCACTTGCCTCGGCCTCCCACAGTGCTGGGATTACAGGCGTGAGCCACTGCGCCCGCCCGAAAACTTTTATAACTTAATGCAGAAATCTCAGTCTGGTCTTGAAGGAGCTCCAAGATTATTTTAAGAAGTTTGCAAGGTAAAAACTATTTTCATAATATTACTAAGACTTTGTCTTCTTCATTCTTTTTTTTTTTTTTTTTTTTTTTAAGATGAGGTCTTGCTGTGTCATCCAGGCTGGAGTGTAGTGGTGCAATCATATTAATTGCTCCCTGAAGTCTCAAACTTCCAGGATCAAGTGATTCTCCTACCTCGGCCTCCCAAAGGACTACAAGTGAGCACCACCACGCCCAGCTAATTTTTTTTTTTTTTTTTTTTGGTAGAGACAAGGTCTTGCTATGTTGCCTAGGCTGGTTTCAAACTCCTGGCCTCAAGTAATCCTCTGGCCTCGGTCTCCCAAAGTGCTGAGATTACAGGTGTGACCCACTGCACCCAGCCTATTTATCTTCTTCATTCTTATTCTTTCGTAAGTATACAATAGAGTTTCCCAGCACATGATATGTGATATCATCGCTCTGACAGCTAATAGAATGTGTGCTGATATATTTCATGTTTTTAAAAGTTGTTTTAATCTAAAATGTGGTAAAAAATTGACAGATATAACCCACATAAACAAAAACTCTTTGGGGTCCTCAATAAATTTTAAGAGTATAAAGAGATCTTCAGACCAAAAAGTTTAAGAACTGCTGATTTTAAGATACTGTATACCCTATTTATACAGTTATATGGTATATTGTGACAGAATCCTGGATAAGGCAGTTTTGAATTAGCAGTATTATTGAGATGTATCATGATGCAGCGAAAAGCACCTGGGTTTTGGAGTCAGATCGAAATTCAAATCTTATTTCTTACATTTATTTACTAGATATATGTAGATTTTGGTAGACCACTTAATTTCTCTAAATCTCTTTTTTTTTTTTGTCTGCTAAATAGGGATAATAATATCTACTTCAGTGGGTAGCTATGAAGATTAGATAATTTTTTAGAACAAAAACTAGTTTCTTTCCCTTATGCTTTTCTGTTTTCCCACCTGCACAAAAGTTACACATGGCTGGTTCTCGATAACTCCGATTAAATTTCCTGCTGCCCTGCCTTACAGAAAGCTTGAGAATGGGCTCTGCTTTGGGATGGTGATGAGGTCTACGCCTGGCTTTCTCCCTTTCCCACTGGGTTTATAAGGTAATAAGACTCTCCCTCAGGTGGCACATAAGCTTCATTTCTCTGTTGGTTCACGCACAATTTGATTTCTAGTACCTCAAACAGTGCCTGGCACTTAATAAGCACTCTGTAAATATTTGTTGAAGGAATGAATAAATGAACAACATAC
TACCCTTGTTCACAGATGACATTATCATATACTTAGAAAAACCTAAGACTCAACCAAAATGATAAATTCAGTCCAGCTGCGGGATACAAAATCAACATACAAAAATCAGTAGCATGACCAGGTGCAGTGGCTCATGCCTATAAACCCAGCACTTTGGGAGGCCAAGGTGGGCAGATCACTTGAGGTCAAGAGTTCGAGACCAGCTTGGCCAACATGGTGAAACCTCGTCTCTAAAAAAAGTACAAAAATTAGCCAGGTGTGGTGGTGTGCACCTGTAGTCCCAGCTACTCGAGACGCTGAAGTATGAGAATCACTTGAACCTGGGAGGGGGAGGTTTCAGTAAGCCAAGATCGAGCCACTGTACTCCAGCCTGGGCAATAGAGCGAGATCCTGTCTCAAAATATCAGTAGCATTTATATATGCCAATAGTGAATAATCTGAAAAAAAATCAAGAAATCCCATTTATAGTAACTACAAAAAATATAAAATGCCCAGGAATCACTCTAACCAAAGAAGTGAAAGGGCCATACAAGGAAAACTATAAAACTCTGATGAAAAAAGTTGAAGAGGACCCCCAAAAATGGAAAGATAGTCCATGCTTGTGGGTTGAAAGAATATTGTAAAAATGATAGGGTAAATTACTACCTAAAGTAATTTACAGATTTATTGTATTCCCCATCAAAATATCAAAGACATTCTTCACAGAAACAGAAAAAAAATCCTAAAATTTATATGGCAGCACAAAAGACCCCAAATAGCCAAAGCAATTCTGAGCAAAAAGAACAAAGATGGAGGCATCACACTACCTGACTTCAAAATTTGCTACAAAGCTAGAGTAACCAAAACACTGTGGTACTGGCACAGAAACAGACACATAAACCAATGGAACAGAACAGAGGACCCAGATATAAATCCACAAATCTATAGCTAACTCATGTTTAACAAAGGTGCCAAGAACATACAATAAAGTGTTGGGAAAACTGGGTAACTATATGCAGAAGAATGAAACTCCTATCTCTCACCACACACAAAAATCAAATCAAAAAAGGATTAAAGACTTAAATCTAAGACCAGAAACTATGAAACTACTAGAAGAAAACATTGGGGAAATGTCCCAGGACATTGTCTGGGCAAAATGCTCATCAATAATTATCAGAGAAATGCAAATCAATGTGTCCTTAACACAGAGGCTGAAATATATATACATATATATAGAAAAAAAGACATGCGAATCAAATCCACAATGAGATATCATTTCACCACAGGTAAAATGGCTTGTATCAAAAAGACAGGCAATAACAGATGCTGGCAAGGGTATGGAGAAAGGGGAACCCTCCTGCACTGTTGGTGGGAATGTAAATTAGTATAGTCACAATGGAGAATAGTATGGAGGTTCCTCAAAAAACTAAAAATAGAACTAACATATTATCCAGCAATTCCACTACTGGCTATATATCCAAATAAAGGAAATAAATATATCAAAGCGGTATCTGCATCCCCATGTTTGTTTATTGCAGCACTATTTACAATAGCCAAAATACGGAATCAACTTAAGTGCTCATCAAGGGATGAATAAAGAAAATTACATACGCGCACGTGCACACACACACACACACACACACACACAATGGAATATTATTCAGCTATAAAAAAGAATGAAATCCTGTTATTTGCAGCAAAATGGATGGAACTGGAGGCCATTATGTTAAGGGAAGAACAAAGAGACAAATATGGCATGTTCTCACTCACATGTGGAAGCTAAAAAGTGGATATTATTAAGATCGAGAGTAGAATGGGAAGGAGGGTGAAGGAGGAAATGGAGGAAAACAGAATATAAATATATTTATTACCACTTAACTGTACACATAAAAATTGTAAAGATGATATATTTTATTTGTAAAATAATTTCTATGCTCCTGGGATTAGCATTAATTAATCACCTAAGGTAGAAAAATAGGTCAGAGTCCAGAAGACCTGGCTACTTTACCTTGCTGGCTGGCAGTTTCTTAGATATGGCGATAATGTAACCGGTTCACTCACCATTCATGTGCCAGATCTTCACTTGACGATCATCTGCCCCAGATACAATAAGGGGCATAGTGGGGTGGAAGGCAGCCCAGTTTACTCCACGATCGTGACCCTGTAGAAAAGAGTGGTTCTTCTAAAACATCTTTATAGTCATTACTCAAAGCAAACCAATGAATCAAGCTACTCGTTGTAAAAAATGTCTCTGATTTATTCTTCATGTGAACAGATTCAAGAGACTACGCTGCTCTAAAATTTTGAGCATCAGAATTACCATGTCTGTCCTCCAATATTACCCCAAATTCTCATGTGAATTTCCAAATACATATTTCTAACCCCTAAACTCAGCCTCATTTGCATTTAGGATATTCTGCTTTGTTTTTTACTTGCCTATTTTTATCTTATTTCTACAAATAATTATTAATATCTCCAGACAAATTTTATTTTTTATTTTTTATTGTTTTTAGACGGAGTCTCGCTCTGTCACCCAGGCTGGAGTGCAGTGGCACGATCTCAGCTCACTGCAACCTCTGCCTCCCGGGTTCAAGTAATTCTCTGCCTCAGCCTCCCAAGTAGCTGGGATTACAGGCACCCACCACCATACCCGGCTAATTTTTTTGTATTTTTAGTAGAGATGGGGTTTCACCATCTTGGCCAGGCTGGTCTTGAACTCCCGGCCTCATGATTCACTTGCCTCGGCCTCCCACAGTGCTGGGATTACAGGCGTGAGCCACTGCGCCCGCCCGAAAACTTTTATAACTTAATGCAGAAATCTCAGTCTGGTCTTGAAGGAGCTCCAAGATTATTTTAAGAAGTTTGCAAGGTAAAAACTATTTTCATAATATTACTAAGACTTTGTCTTCTTCATTCTTTTTTTTTTTTTTTTTTTTTTTAAGATGAGGTCTTGCTGTGTCATCCAGGCTGGAGTGTAGTGGTGCAATCATATTAATTGCTCCCTGAAGTCTCAAACTTCCAGGATCAAGTGATTCTCCTACCTCGGCCTCCCAAAGGACTACAAGTGAGCACCACCACGCCCAGCTAATTTTTTTTTTTTTTTTTTTTGGTAGAGACAAGGTCTTGCTATGTTGCCTAGGCTGGTTTCAAACTCCTGGCCTCAAGTAATCCTCTGGCCTCGGTCTCCCAAAGTGCTGAGATTACAGGTGTGACCCACTGCACCCAGCCTATTTATCTTCTTCATTCTTATTCTTTCGTAAGTATACAATAGAGTTTCCCAGCACATGATATGTGATATCATCGCTCTGACAGCTAATAGAATGTGTGCTGATATATTTCATGTTTTTAAAAGTTGTTTTAATCTAAAATGTGGTAAAAAATTGACAGATATAACCCACATAAACAAAAACTCTTTGGGGTCCTCAATAAATTTTAAGAGTATAAAGAGATCTTCAGACCAAAAAGTTTAAGAACTGCTGATTTTAAGATACTGTATACCCTATTTATACAGTTATATGGTATATTGTGACAGAATCCTGGATAAGGCAGTTTTGAATTAGCAGTATTATTGAGATGTATCATGATGCAGCGAAAAGCACCTGGGTTTTGGAGTCAGATCGAAATTCAAATCTTATTTCTTACATTTATTTACTAGATATATGTAGATTTTGGTAGACCACTTAATTTCTCTAAATCTCTTTTTTTTTTTTGTCTGCTAAATAGGGATAATAATATCTACTTCAGTGGGTAGCTATGAAGATTAGATAATTTTTTAGAACAAAAACTAGTTTCTTTCCCTTATGCTTTTCTGTTTTCCCACCTGCACAAAAGTTACACATGGCTGGTTCTCGATAACTCCGATTAAATTTCCTGCTGCCCTGCCTTACAGAAAGCTTGAGAATGGGCTCTGCTTTGGGATGGTGATGAGGTCTACGCCTGGCTTTCTCCCTTTCCCACTGGGTTTATAAGGTAATAAGACTCTCCCTCAGGTGGCACATAAGCTTCATTTCTCTGTTGGTTCACGCACAATTTGATTTCTAGTACCTCAAACAGTGCCTGGCACTTAATAAGCACTCTGTAAATATTTGTTGAAGGAATGAATAAATGAACAACATAC
Task1_train_1972
Consider a variant on Chromosome 1 in gene COPA (COPI coat complex subunit alpha). Determine its clinical classification and disease relevance.
Pathogenic; See cases
TACCCTTGTTCACAGATGACATTATCATATACTTAGAAAAACCTAAGACTCAACCAAAATGATAAATTCAGTCCAGCTGCGGGATACAAAATCAACATACAAAAATCAGTAGCATGACCAGGTGCAGTGGCTCATGCCTATAAACCCAGCACTTTGGGAGGCCAAGGTGGGCAGATCACTTGAGGTCAAGAGTTCGAGACCAGCTTGGCCAACATGGTGAAACCTCGTCTCTAAAAAAAGTACAAAAATTAGCCAGGTGTGGTGGTGTGCACCTGTAGTCCCAGCTACTCGAGACGCTGAAGTATGAGAATCACTTGAACCTGGGAGGGGGAGGTTTCAGTAAGCCAAGATCGAGCCACTGTACTCCAGCCTGGGCAATAGAGCGAGATCCTGTCTCAAAATATCAGTAGCATTTATATATGCCAATAGTGAATAATCTGAAAAAAAATCAAGAAATCCCATTTATAGTAACTACAAAAAATATAAAATGCCCAGGAATCACTCTAACCAAAGAAGTGAAAGGGCCATACAAGGAAAACTATAAAACTCTGATGAAAAAAGTTGAAGAGGACCCCCAAAAATGGAAAGATAGTCCATGCTTGTGGGTTGAAAGAATATTGTAAAAATGATAGGGTAAATTACTACCTAAAGTAATTTACAGATTTATTGTATTCCCCATCAAAATATCAAAGACATTCTTCACAGAAACAGAAAAAAAATCCTAAAATTTATATGGCAGCACAAAAGACCCCAAATAGCCAAAGCAATTCTGAGCAAAAAGAACAAAGATGGAGGCATCACACTACCTGACTTCAAAATTTGCTACAAAGCTAGAGTAACCAAAACACTGTGGTACTGGCACAGAAACAGACACATAAACCAATGGAACAGAACAGAGGACCCAGATATAAATCCACAAATCTATAGCTAACTCATGTTTAACAAAGGTGCCAAGAACATACAATAAAGTGTTGGGAAAACTGGGTAACTATATGCAGAAGAATGAAACTCCTATCTCTCACCACACACAAAAATCAAATCAAAAAAGGATTAAAGACTTAAATCTAAGACCAGAAACTATGAAACTACTAGAAGAAAACATTGGGGAAATGTCCCAGGACATTGTCTGGGCAAAATGCTCATCAATAATTATCAGAGAAATGCAAATCAATGTGTCCTTAACACAGAGGCTGAAATATATATACATATATATAGAAAAAAAGACATGCGAATCAAATCCACAATGAGATATCATTTCACCACAGGTAAAATGGCTTGTATCAAAAAGACAGGCAATAACAGATGCTGGCAAGGGTATGGAGAAAGGGGAACCCTCCTGCACTGTTGGTGGGAATGTAAATTAGTATAGTCACAATGGAGAATAGTATGGAGGTTCCTCAAAAAACTAAAAATAGAACTAACATATTATCCAGCAATTCCACTACTGGCTATATATCCAAATAAAGGAAATAAATATATCAAAGCGGTATCTGCATCCCCATGTTTGTTTATTGCAGCACTATTTACAATAGCCAAAATACGGAATCAACTTAAGTGCTCATCAAGGGATGAATAAAGAAAATTACATACGCGCACGTGCACACACACACACACACACACACACACAATGGAATATTATTCAGCTATAAAAAAGAATGAAATCCTGTTATTTGCAGCAAAATGGATGGAACTGGAGGCCATTATGTTAAGGGAAGAACAAAGAGACAAATATGGCATGTTCTCACTCACATGTGGAAGCTAAAAAGTGGATATTATTAAGATCGAGAGTAGAATGGGAAGGAGGGTGAAGGAGGAAATGGAGGAAAACAGAATATAAATATATTTATTACCACTTAACTGTACACATAAAAATTGTAAAGATGATATATTTTATTTGTAAAATAATTTCTATGCTCCTGGGATTAGCATTAATTAATCACCTAAGGTAGAAAAATAGGTCAGAGTCCAGAAGACCTGGCTACTTTACCTTGCTGGCTGGCAGTTTCTTAGATATGGCGATAATGTAACCGGTTCACTCACCATTCATGCGCCAGATCTTCACTTGACGATCATCTGCCCCAGATACAATAAGGGGCATAGTGGGGTGGAAGGCAGCCCAGTTTACTCCACGATCGTGACCCTGTAGAAAAGAGTGGTTCTTCTAAAACATCTTTATAGTCATTACTCAAAGCAAACCAATGAATCAAGCTACTCGTTGTAAAAAATGTCTCTGATTTATTCTTCATGTGAACAGATTCAAGAGACTACGCTGCTCTAAAATTTTGAGCATCAGAATTACCATGTCTGTCCTCCAATATTACCCCAAATTCTCATGTGAATTTCCAAATACATATTTCTAACCCCTAAACTCAGCCTCATTTGCATTTAGGATATTCTGCTTTGTTTTTTACTTGCCTATTTTTATCTTATTTCTACAAATAATTATTAATATCTCCAGACAAATTTTATTTTTTATTTTTTATTGTTTTTAGACGGAGTCTCGCTCTGTCACCCAGGCTGGAGTGCAGTGGCACGATCTCAGCTCACTGCAACCTCTGCCTCCCGGGTTCAAGTAATTCTCTGCCTCAGCCTCCCAAGTAGCTGGGATTACAGGCACCCACCACCATACCCGGCTAATTTTTTTGTATTTTTAGTAGAGATGGGGTTTCACCATCTTGGCCAGGCTGGTCTTGAACTCCCGGCCTCATGATTCACTTGCCTCGGCCTCCCACAGTGCTGGGATTACAGGCGTGAGCCACTGCGCCCGCCCGAAAACTTTTATAACTTAATGCAGAAATCTCAGTCTGGTCTTGAAGGAGCTCCAAGATTATTTTAAGAAGTTTGCAAGGTAAAAACTATTTTCATAATATTACTAAGACTTTGTCTTCTTCATTCTTTTTTTTTTTTTTTTTTTTTTTAAGATGAGGTCTTGCTGTGTCATCCAGGCTGGAGTGTAGTGGTGCAATCATATTAATTGCTCCCTGAAGTCTCAAACTTCCAGGATCAAGTGATTCTCCTACCTCGGCCTCCCAAAGGACTACAAGTGAGCACCACCACGCCCAGCTAATTTTTTTTTTTTTTTTTTTTGGTAGAGACAAGGTCTTGCTATGTTGCCTAGGCTGGTTTCAAACTCCTGGCCTCAAGTAATCCTCTGGCCTCGGTCTCCCAAAGTGCTGAGATTACAGGTGTGACCCACTGCACCCAGCCTATTTATCTTCTTCATTCTTATTCTTTCGTAAGTATACAATAGAGTTTCCCAGCACATGATATGTGATATCATCGCTCTGACAGCTAATAGAATGTGTGCTGATATATTTCATGTTTTTAAAAGTTGTTTTAATCTAAAATGTGGTAAAAAATTGACAGATATAACCCACATAAACAAAAACTCTTTGGGGTCCTCAATAAATTTTAAGAGTATAAAGAGATCTTCAGACCAAAAAGTTTAAGAACTGCTGATTTTAAGATACTGTATACCCTATTTATACAGTTATATGGTATATTGTGACAGAATCCTGGATAAGGCAGTTTTGAATTAGCAGTATTATTGAGATGTATCATGATGCAGCGAAAAGCACCTGGGTTTTGGAGTCAGATCGAAATTCAAATCTTATTTCTTACATTTATTTACTAGATATATGTAGATTTTGGTAGACCACTTAATTTCTCTAAATCTCTTTTTTTTTTTTGTCTGCTAAATAGGGATAATAATATCTACTTCAGTGGGTAGCTATGAAGATTAGATAATTTTTTAGAACAAAAACTAGTTTCTTTCCCTTATGCTTTTCTGTTTTCCCACCTGCACAAAAGTTACACATGGCTGGTTCTCGATAACTCCGATTAAATTTCCTGCTGCCCTGCCTTACAGAAAGCTTGAGAATGGGCTCTGCTTTGGGATGGTGATGAGGTCTACGCCTGGCTTTCTCCCTTTCCCACTGGGTTTATAAGGTAATAAGACTCTCCCTCAGGTGGCACATAAGCTTCATTTCTCTGTTGGTTCACGCACAATTTGATTTCTAGTACCTCAAACAGTGCCTGGCACTTAATAAGCACTCTGTAAATATTTGTTGAAGGAATGAATAAATGAACAACATAC
TACCCTTGTTCACAGATGACATTATCATATACTTAGAAAAACCTAAGACTCAACCAAAATGATAAATTCAGTCCAGCTGCGGGATACAAAATCAACATACAAAAATCAGTAGCATGACCAGGTGCAGTGGCTCATGCCTATAAACCCAGCACTTTGGGAGGCCAAGGTGGGCAGATCACTTGAGGTCAAGAGTTCGAGACCAGCTTGGCCAACATGGTGAAACCTCGTCTCTAAAAAAAGTACAAAAATTAGCCAGGTGTGGTGGTGTGCACCTGTAGTCCCAGCTACTCGAGACGCTGAAGTATGAGAATCACTTGAACCTGGGAGGGGGAGGTTTCAGTAAGCCAAGATCGAGCCACTGTACTCCAGCCTGGGCAATAGAGCGAGATCCTGTCTCAAAATATCAGTAGCATTTATATATGCCAATAGTGAATAATCTGAAAAAAAATCAAGAAATCCCATTTATAGTAACTACAAAAAATATAAAATGCCCAGGAATCACTCTAACCAAAGAAGTGAAAGGGCCATACAAGGAAAACTATAAAACTCTGATGAAAAAAGTTGAAGAGGACCCCCAAAAATGGAAAGATAGTCCATGCTTGTGGGTTGAAAGAATATTGTAAAAATGATAGGGTAAATTACTACCTAAAGTAATTTACAGATTTATTGTATTCCCCATCAAAATATCAAAGACATTCTTCACAGAAACAGAAAAAAAATCCTAAAATTTATATGGCAGCACAAAAGACCCCAAATAGCCAAAGCAATTCTGAGCAAAAAGAACAAAGATGGAGGCATCACACTACCTGACTTCAAAATTTGCTACAAAGCTAGAGTAACCAAAACACTGTGGTACTGGCACAGAAACAGACACATAAACCAATGGAACAGAACAGAGGACCCAGATATAAATCCACAAATCTATAGCTAACTCATGTTTAACAAAGGTGCCAAGAACATACAATAAAGTGTTGGGAAAACTGGGTAACTATATGCAGAAGAATGAAACTCCTATCTCTCACCACACACAAAAATCAAATCAAAAAAGGATTAAAGACTTAAATCTAAGACCAGAAACTATGAAACTACTAGAAGAAAACATTGGGGAAATGTCCCAGGACATTGTCTGGGCAAAATGCTCATCAATAATTATCAGAGAAATGCAAATCAATGTGTCCTTAACACAGAGGCTGAAATATATATACATATATATAGAAAAAAAGACATGCGAATCAAATCCACAATGAGATATCATTTCACCACAGGTAAAATGGCTTGTATCAAAAAGACAGGCAATAACAGATGCTGGCAAGGGTATGGAGAAAGGGGAACCCTCCTGCACTGTTGGTGGGAATGTAAATTAGTATAGTCACAATGGAGAATAGTATGGAGGTTCCTCAAAAAACTAAAAATAGAACTAACATATTATCCAGCAATTCCACTACTGGCTATATATCCAAATAAAGGAAATAAATATATCAAAGCGGTATCTGCATCCCCATGTTTGTTTATTGCAGCACTATTTACAATAGCCAAAATACGGAATCAACTTAAGTGCTCATCAAGGGATGAATAAAGAAAATTACATACGCGCACGTGCACACACACACACACACACACACACACAATGGAATATTATTCAGCTATAAAAAAGAATGAAATCCTGTTATTTGCAGCAAAATGGATGGAACTGGAGGCCATTATGTTAAGGGAAGAACAAAGAGACAAATATGGCATGTTCTCACTCACATGTGGAAGCTAAAAAGTGGATATTATTAAGATCGAGAGTAGAATGGGAAGGAGGGTGAAGGAGGAAATGGAGGAAAACAGAATATAAATATATTTATTACCACTTAACTGTACACATAAAAATTGTAAAGATGATATATTTTATTTGTAAAATAATTTCTATGCTCCTGGGATTAGCATTAATTAATCACCTAAGGTAGAAAAATAGGTCAGAGTCCAGAAGACCTGGCTACTTTACCTTGCTGGCTGGCAGTTTCTTAGATATGGCGATAATGTAACCGGTTCACTCACCATTCATGTGCCAGATCTTCACTTGACGATCATCTGCCCCAGATACAATAAGGGGCATAGTGGGGTGGAAGGCAGCCCAGTTTACTCCACGATCGTGACCCTGTAGAAAAGAGTGGTTCTTCTAAAACATCTTTATAGTCATTACTCAAAGCAAACCAATGAATCAAGCTACTCGTTGTAAAAAATGTCTCTGATTTATTCTTCATGTGAACAGATTCAAGAGACTACGCTGCTCTAAAATTTTGAGCATCAGAATTACCATGTCTGTCCTCCAATATTACCCCAAATTCTCATGTGAATTTCCAAATACATATTTCTAACCCCTAAACTCAGCCTCATTTGCATTTAGGATATTCTGCTTTGTTTTTTACTTGCCTATTTTTATCTTATTTCTACAAATAATTATTAATATCTCCAGACAAATTTTATTTTTTATTTTTTATTGTTTTTAGACGGAGTCTCGCTCTGTCACCCAGGCTGGAGTGCAGTGGCACGATCTCAGCTCACTGCAACCTCTGCCTCCCGGGTTCAAGTAATTCTCTGCCTCAGCCTCCCAAGTAGCTGGGATTACAGGCACCCACCACCATACCCGGCTAATTTTTTTGTATTTTTAGTAGAGATGGGGTTTCACCATCTTGGCCAGGCTGGTCTTGAACTCCCGGCCTCATGATTCACTTGCCTCGGCCTCCCACAGTGCTGGGATTACAGGCGTGAGCCACTGCGCCCGCCCGAAAACTTTTATAACTTAATGCAGAAATCTCAGTCTGGTCTTGAAGGAGCTCCAAGATTATTTTAAGAAGTTTGCAAGGTAAAAACTATTTTCATAATATTACTAAGACTTTGTCTTCTTCATTCTTTTTTTTTTTTTTTTTTTTTTTAAGATGAGGTCTTGCTGTGTCATCCAGGCTGGAGTGTAGTGGTGCAATCATATTAATTGCTCCCTGAAGTCTCAAACTTCCAGGATCAAGTGATTCTCCTACCTCGGCCTCCCAAAGGACTACAAGTGAGCACCACCACGCCCAGCTAATTTTTTTTTTTTTTTTTTTTGGTAGAGACAAGGTCTTGCTATGTTGCCTAGGCTGGTTTCAAACTCCTGGCCTCAAGTAATCCTCTGGCCTCGGTCTCCCAAAGTGCTGAGATTACAGGTGTGACCCACTGCACCCAGCCTATTTATCTTCTTCATTCTTATTCTTTCGTAAGTATACAATAGAGTTTCCCAGCACATGATATGTGATATCATCGCTCTGACAGCTAATAGAATGTGTGCTGATATATTTCATGTTTTTAAAAGTTGTTTTAATCTAAAATGTGGTAAAAAATTGACAGATATAACCCACATAAACAAAAACTCTTTGGGGTCCTCAATAAATTTTAAGAGTATAAAGAGATCTTCAGACCAAAAAGTTTAAGAACTGCTGATTTTAAGATACTGTATACCCTATTTATACAGTTATATGGTATATTGTGACAGAATCCTGGATAAGGCAGTTTTGAATTAGCAGTATTATTGAGATGTATCATGATGCAGCGAAAAGCACCTGGGTTTTGGAGTCAGATCGAAATTCAAATCTTATTTCTTACATTTATTTACTAGATATATGTAGATTTTGGTAGACCACTTAATTTCTCTAAATCTCTTTTTTTTTTTTGTCTGCTAAATAGGGATAATAATATCTACTTCAGTGGGTAGCTATGAAGATTAGATAATTTTTTAGAACAAAAACTAGTTTCTTTCCCTTATGCTTTTCTGTTTTCCCACCTGCACAAAAGTTACACATGGCTGGTTCTCGATAACTCCGATTAAATTTCCTGCTGCCCTGCCTTACAGAAAGCTTGAGAATGGGCTCTGCTTTGGGATGGTGATGAGGTCTACGCCTGGCTTTCTCCCTTTCCCACTGGGTTTATAAGGTAATAAGACTCTCCCTCAGGTGGCACATAAGCTTCATTTCTCTGTTGGTTCACGCACAATTTGATTTCTAGTACCTCAAACAGTGCCTGGCACTTAATAAGCACTCTGTAAATATTTGTTGAAGGAATGAATAAATGAACAACATAC
Task1_train_1973
A variant was discovered in gene COPA (COPI coat complex subunit alpha), Chromosome 1. Please indicate if this mutation results in a known disease or if it's non-harmful.
Pathogenic; Autoimmune interstitial lung disease-arthritis syndrome
TTCACAGATGACATTATCATATACTTAGAAAAACCTAAGACTCAACCAAAATGATAAATTCAGTCCAGCTGCGGGATACAAAATCAACATACAAAAATCAGTAGCATGACCAGGTGCAGTGGCTCATGCCTATAAACCCAGCACTTTGGGAGGCCAAGGTGGGCAGATCACTTGAGGTCAAGAGTTCGAGACCAGCTTGGCCAACATGGTGAAACCTCGTCTCTAAAAAAAGTACAAAAATTAGCCAGGTGTGGTGGTGTGCACCTGTAGTCCCAGCTACTCGAGACGCTGAAGTATGAGAATCACTTGAACCTGGGAGGGGGAGGTTTCAGTAAGCCAAGATCGAGCCACTGTACTCCAGCCTGGGCAATAGAGCGAGATCCTGTCTCAAAATATCAGTAGCATTTATATATGCCAATAGTGAATAATCTGAAAAAAAATCAAGAAATCCCATTTATAGTAACTACAAAAAATATAAAATGCCCAGGAATCACTCTAACCAAAGAAGTGAAAGGGCCATACAAGGAAAACTATAAAACTCTGATGAAAAAAGTTGAAGAGGACCCCCAAAAATGGAAAGATAGTCCATGCTTGTGGGTTGAAAGAATATTGTAAAAATGATAGGGTAAATTACTACCTAAAGTAATTTACAGATTTATTGTATTCCCCATCAAAATATCAAAGACATTCTTCACAGAAACAGAAAAAAAATCCTAAAATTTATATGGCAGCACAAAAGACCCCAAATAGCCAAAGCAATTCTGAGCAAAAAGAACAAAGATGGAGGCATCACACTACCTGACTTCAAAATTTGCTACAAAGCTAGAGTAACCAAAACACTGTGGTACTGGCACAGAAACAGACACATAAACCAATGGAACAGAACAGAGGACCCAGATATAAATCCACAAATCTATAGCTAACTCATGTTTAACAAAGGTGCCAAGAACATACAATAAAGTGTTGGGAAAACTGGGTAACTATATGCAGAAGAATGAAACTCCTATCTCTCACCACACACAAAAATCAAATCAAAAAAGGATTAAAGACTTAAATCTAAGACCAGAAACTATGAAACTACTAGAAGAAAACATTGGGGAAATGTCCCAGGACATTGTCTGGGCAAAATGCTCATCAATAATTATCAGAGAAATGCAAATCAATGTGTCCTTAACACAGAGGCTGAAATATATATACATATATATAGAAAAAAAGACATGCGAATCAAATCCACAATGAGATATCATTTCACCACAGGTAAAATGGCTTGTATCAAAAAGACAGGCAATAACAGATGCTGGCAAGGGTATGGAGAAAGGGGAACCCTCCTGCACTGTTGGTGGGAATGTAAATTAGTATAGTCACAATGGAGAATAGTATGGAGGTTCCTCAAAAAACTAAAAATAGAACTAACATATTATCCAGCAATTCCACTACTGGCTATATATCCAAATAAAGGAAATAAATATATCAAAGCGGTATCTGCATCCCCATGTTTGTTTATTGCAGCACTATTTACAATAGCCAAAATACGGAATCAACTTAAGTGCTCATCAAGGGATGAATAAAGAAAATTACATACGCGCACGTGCACACACACACACACACACACACACACAATGGAATATTATTCAGCTATAAAAAAGAATGAAATCCTGTTATTTGCAGCAAAATGGATGGAACTGGAGGCCATTATGTTAAGGGAAGAACAAAGAGACAAATATGGCATGTTCTCACTCACATGTGGAAGCTAAAAAGTGGATATTATTAAGATCGAGAGTAGAATGGGAAGGAGGGTGAAGGAGGAAATGGAGGAAAACAGAATATAAATATATTTATTACCACTTAACTGTACACATAAAAATTGTAAAGATGATATATTTTATTTGTAAAATAATTTCTATGCTCCTGGGATTAGCATTAATTAATCACCTAAGGTAGAAAAATAGGTCAGAGTCCAGAAGACCTGGCTACTTTACCTTGCTGGCTGGCAGTTTCTTAGATATGGCGATAATGTAACCGGTTCACTCACCATTCATGCGCCAGATCTTCACTTGACGATCATCTGCCCCAGATACAATAAGGGGCATAGTGGGGTGGAAGGCAGCCCAGTTTACTCCACGATCGTGACCCTGTAGAAAAGAGTGGTTCTTCTAAAACATCTTTATAGTCATTACTCAAAGCAAACCAATGAATCAAGCTACTCGTTGTAAAAAATGTCTCTGATTTATTCTTCATGTGAACAGATTCAAGAGACTACGCTGCTCTAAAATTTTGAGCATCAGAATTACCATGTCTGTCCTCCAATATTACCCCAAATTCTCATGTGAATTTCCAAATACATATTTCTAACCCCTAAACTCAGCCTCATTTGCATTTAGGATATTCTGCTTTGTTTTTTACTTGCCTATTTTTATCTTATTTCTACAAATAATTATTAATATCTCCAGACAAATTTTATTTTTTATTTTTTATTGTTTTTAGACGGAGTCTCGCTCTGTCACCCAGGCTGGAGTGCAGTGGCACGATCTCAGCTCACTGCAACCTCTGCCTCCCGGGTTCAAGTAATTCTCTGCCTCAGCCTCCCAAGTAGCTGGGATTACAGGCACCCACCACCATACCCGGCTAATTTTTTTGTATTTTTAGTAGAGATGGGGTTTCACCATCTTGGCCAGGCTGGTCTTGAACTCCCGGCCTCATGATTCACTTGCCTCGGCCTCCCACAGTGCTGGGATTACAGGCGTGAGCCACTGCGCCCGCCCGAAAACTTTTATAACTTAATGCAGAAATCTCAGTCTGGTCTTGAAGGAGCTCCAAGATTATTTTAAGAAGTTTGCAAGGTAAAAACTATTTTCATAATATTACTAAGACTTTGTCTTCTTCATTCTTTTTTTTTTTTTTTTTTTTTTTAAGATGAGGTCTTGCTGTGTCATCCAGGCTGGAGTGTAGTGGTGCAATCATATTAATTGCTCCCTGAAGTCTCAAACTTCCAGGATCAAGTGATTCTCCTACCTCGGCCTCCCAAAGGACTACAAGTGAGCACCACCACGCCCAGCTAATTTTTTTTTTTTTTTTTTTTGGTAGAGACAAGGTCTTGCTATGTTGCCTAGGCTGGTTTCAAACTCCTGGCCTCAAGTAATCCTCTGGCCTCGGTCTCCCAAAGTGCTGAGATTACAGGTGTGACCCACTGCACCCAGCCTATTTATCTTCTTCATTCTTATTCTTTCGTAAGTATACAATAGAGTTTCCCAGCACATGATATGTGATATCATCGCTCTGACAGCTAATAGAATGTGTGCTGATATATTTCATGTTTTTAAAAGTTGTTTTAATCTAAAATGTGGTAAAAAATTGACAGATATAACCCACATAAACAAAAACTCTTTGGGGTCCTCAATAAATTTTAAGAGTATAAAGAGATCTTCAGACCAAAAAGTTTAAGAACTGCTGATTTTAAGATACTGTATACCCTATTTATACAGTTATATGGTATATTGTGACAGAATCCTGGATAAGGCAGTTTTGAATTAGCAGTATTATTGAGATGTATCATGATGCAGCGAAAAGCACCTGGGTTTTGGAGTCAGATCGAAATTCAAATCTTATTTCTTACATTTATTTACTAGATATATGTAGATTTTGGTAGACCACTTAATTTCTCTAAATCTCTTTTTTTTTTTTGTCTGCTAAATAGGGATAATAATATCTACTTCAGTGGGTAGCTATGAAGATTAGATAATTTTTTAGAACAAAAACTAGTTTCTTTCCCTTATGCTTTTCTGTTTTCCCACCTGCACAAAAGTTACACATGGCTGGTTCTCGATAACTCCGATTAAATTTCCTGCTGCCCTGCCTTACAGAAAGCTTGAGAATGGGCTCTGCTTTGGGATGGTGATGAGGTCTACGCCTGGCTTTCTCCCTTTCCCACTGGGTTTATAAGGTAATAAGACTCTCCCTCAGGTGGCACATAAGCTTCATTTCTCTGTTGGTTCACGCACAATTTGATTTCTAGTACCTCAAACAGTGCCTGGCACTTAATAAGCACTCTGTAAATATTTGTTGAAGGAATGAATAAATGAACAACATACTGTGACTT
TTCACAGATGACATTATCATATACTTAGAAAAACCTAAGACTCAACCAAAATGATAAATTCAGTCCAGCTGCGGGATACAAAATCAACATACAAAAATCAGTAGCATGACCAGGTGCAGTGGCTCATGCCTATAAACCCAGCACTTTGGGAGGCCAAGGTGGGCAGATCACTTGAGGTCAAGAGTTCGAGACCAGCTTGGCCAACATGGTGAAACCTCGTCTCTAAAAAAAGTACAAAAATTAGCCAGGTGTGGTGGTGTGCACCTGTAGTCCCAGCTACTCGAGACGCTGAAGTATGAGAATCACTTGAACCTGGGAGGGGGAGGTTTCAGTAAGCCAAGATCGAGCCACTGTACTCCAGCCTGGGCAATAGAGCGAGATCCTGTCTCAAAATATCAGTAGCATTTATATATGCCAATAGTGAATAATCTGAAAAAAAATCAAGAAATCCCATTTATAGTAACTACAAAAAATATAAAATGCCCAGGAATCACTCTAACCAAAGAAGTGAAAGGGCCATACAAGGAAAACTATAAAACTCTGATGAAAAAAGTTGAAGAGGACCCCCAAAAATGGAAAGATAGTCCATGCTTGTGGGTTGAAAGAATATTGTAAAAATGATAGGGTAAATTACTACCTAAAGTAATTTACAGATTTATTGTATTCCCCATCAAAATATCAAAGACATTCTTCACAGAAACAGAAAAAAAATCCTAAAATTTATATGGCAGCACAAAAGACCCCAAATAGCCAAAGCAATTCTGAGCAAAAAGAACAAAGATGGAGGCATCACACTACCTGACTTCAAAATTTGCTACAAAGCTAGAGTAACCAAAACACTGTGGTACTGGCACAGAAACAGACACATAAACCAATGGAACAGAACAGAGGACCCAGATATAAATCCACAAATCTATAGCTAACTCATGTTTAACAAAGGTGCCAAGAACATACAATAAAGTGTTGGGAAAACTGGGTAACTATATGCAGAAGAATGAAACTCCTATCTCTCACCACACACAAAAATCAAATCAAAAAAGGATTAAAGACTTAAATCTAAGACCAGAAACTATGAAACTACTAGAAGAAAACATTGGGGAAATGTCCCAGGACATTGTCTGGGCAAAATGCTCATCAATAATTATCAGAGAAATGCAAATCAATGTGTCCTTAACACAGAGGCTGAAATATATATACATATATATAGAAAAAAAGACATGCGAATCAAATCCACAATGAGATATCATTTCACCACAGGTAAAATGGCTTGTATCAAAAAGACAGGCAATAACAGATGCTGGCAAGGGTATGGAGAAAGGGGAACCCTCCTGCACTGTTGGTGGGAATGTAAATTAGTATAGTCACAATGGAGAATAGTATGGAGGTTCCTCAAAAAACTAAAAATAGAACTAACATATTATCCAGCAATTCCACTACTGGCTATATATCCAAATAAAGGAAATAAATATATCAAAGCGGTATCTGCATCCCCATGTTTGTTTATTGCAGCACTATTTACAATAGCCAAAATACGGAATCAACTTAAGTGCTCATCAAGGGATGAATAAAGAAAATTACATACGCGCACGTGCACACACACACACACACACACACACACAATGGAATATTATTCAGCTATAAAAAAGAATGAAATCCTGTTATTTGCAGCAAAATGGATGGAACTGGAGGCCATTATGTTAAGGGAAGAACAAAGAGACAAATATGGCATGTTCTCACTCACATGTGGAAGCTAAAAAGTGGATATTATTAAGATCGAGAGTAGAATGGGAAGGAGGGTGAAGGAGGAAATGGAGGAAAACAGAATATAAATATATTTATTACCACTTAACTGTACACATAAAAATTGTAAAGATGATATATTTTATTTGTAAAATAATTTCTATGCTCCTGGGATTAGCATTAATTAATCACCTAAGGTAGAAAAATAGGTCAGAGTCCAGAAGACCTGGCTACTTTACCTTGCTGGCTGGCAGTTTCTTAGATATGGCGATAATGTAACCGGTTCACTCACCATTCATGCGCCAGATATTCACTTGACGATCATCTGCCCCAGATACAATAAGGGGCATAGTGGGGTGGAAGGCAGCCCAGTTTACTCCACGATCGTGACCCTGTAGAAAAGAGTGGTTCTTCTAAAACATCTTTATAGTCATTACTCAAAGCAAACCAATGAATCAAGCTACTCGTTGTAAAAAATGTCTCTGATTTATTCTTCATGTGAACAGATTCAAGAGACTACGCTGCTCTAAAATTTTGAGCATCAGAATTACCATGTCTGTCCTCCAATATTACCCCAAATTCTCATGTGAATTTCCAAATACATATTTCTAACCCCTAAACTCAGCCTCATTTGCATTTAGGATATTCTGCTTTGTTTTTTACTTGCCTATTTTTATCTTATTTCTACAAATAATTATTAATATCTCCAGACAAATTTTATTTTTTATTTTTTATTGTTTTTAGACGGAGTCTCGCTCTGTCACCCAGGCTGGAGTGCAGTGGCACGATCTCAGCTCACTGCAACCTCTGCCTCCCGGGTTCAAGTAATTCTCTGCCTCAGCCTCCCAAGTAGCTGGGATTACAGGCACCCACCACCATACCCGGCTAATTTTTTTGTATTTTTAGTAGAGATGGGGTTTCACCATCTTGGCCAGGCTGGTCTTGAACTCCCGGCCTCATGATTCACTTGCCTCGGCCTCCCACAGTGCTGGGATTACAGGCGTGAGCCACTGCGCCCGCCCGAAAACTTTTATAACTTAATGCAGAAATCTCAGTCTGGTCTTGAAGGAGCTCCAAGATTATTTTAAGAAGTTTGCAAGGTAAAAACTATTTTCATAATATTACTAAGACTTTGTCTTCTTCATTCTTTTTTTTTTTTTTTTTTTTTTTAAGATGAGGTCTTGCTGTGTCATCCAGGCTGGAGTGTAGTGGTGCAATCATATTAATTGCTCCCTGAAGTCTCAAACTTCCAGGATCAAGTGATTCTCCTACCTCGGCCTCCCAAAGGACTACAAGTGAGCACCACCACGCCCAGCTAATTTTTTTTTTTTTTTTTTTTGGTAGAGACAAGGTCTTGCTATGTTGCCTAGGCTGGTTTCAAACTCCTGGCCTCAAGTAATCCTCTGGCCTCGGTCTCCCAAAGTGCTGAGATTACAGGTGTGACCCACTGCACCCAGCCTATTTATCTTCTTCATTCTTATTCTTTCGTAAGTATACAATAGAGTTTCCCAGCACATGATATGTGATATCATCGCTCTGACAGCTAATAGAATGTGTGCTGATATATTTCATGTTTTTAAAAGTTGTTTTAATCTAAAATGTGGTAAAAAATTGACAGATATAACCCACATAAACAAAAACTCTTTGGGGTCCTCAATAAATTTTAAGAGTATAAAGAGATCTTCAGACCAAAAAGTTTAAGAACTGCTGATTTTAAGATACTGTATACCCTATTTATACAGTTATATGGTATATTGTGACAGAATCCTGGATAAGGCAGTTTTGAATTAGCAGTATTATTGAGATGTATCATGATGCAGCGAAAAGCACCTGGGTTTTGGAGTCAGATCGAAATTCAAATCTTATTTCTTACATTTATTTACTAGATATATGTAGATTTTGGTAGACCACTTAATTTCTCTAAATCTCTTTTTTTTTTTTGTCTGCTAAATAGGGATAATAATATCTACTTCAGTGGGTAGCTATGAAGATTAGATAATTTTTTAGAACAAAAACTAGTTTCTTTCCCTTATGCTTTTCTGTTTTCCCACCTGCACAAAAGTTACACATGGCTGGTTCTCGATAACTCCGATTAAATTTCCTGCTGCCCTGCCTTACAGAAAGCTTGAGAATGGGCTCTGCTTTGGGATGGTGATGAGGTCTACGCCTGGCTTTCTCCCTTTCCCACTGGGTTTATAAGGTAATAAGACTCTCCCTCAGGTGGCACATAAGCTTCATTTCTCTGTTGGTTCACGCACAATTTGATTTCTAGTACCTCAAACAGTGCCTGGCACTTAATAAGCACTCTGTAAATATTTGTTGAAGGAATGAATAAATGAACAACATACTGTGACTT
Task1_train_1974
A variant affecting Chromosome 1, within the gene NCSTN (nicastrin), has been observed. Determine if it's benign or associated with disease.
Pathogenic; Acne inversa, familial, 1
CCTCCTTAAGTGAGGTTGCCACTACTCGTCTCCAAAAAGGCTACTGACTCGGGTGCGAGTAACAGAGATCGAGACTCAGTTCCCAGGGCCACTCCATATAACACAGTCATCAAAAAGCCAACAGATCACAGGGCCTTTGGAGCAGAACAACACAAATCGGGAGCACAGCCAAGAGAGAAAGGGGGAAGAAAGAATAGGGAGGGGGTCTAAGGAATCCCCTGCAGTGTGGGAGCCACTTTATAGGTAAATCGAAGCCCAAGGACACACCAAAGAAGAGGGGACTGGAGAACCGCTAGCCAGGCCCAACCTCTCTCCCACCCTCCGTCTTCCTCCGGGTCCGTCTGGTGGGCCCATTTCGACCAACACCTCTACCCATTTTCTCTTCCCCGGTGTCAGCGCCGCTCCTGACATCCAACCTCCATGTTCCCCCTTTTATTCTCCACTACCTTTGACCCGCGCGCTCTTGGTCTCGAATTTGGTTAACATCTCTCAGGTCTCCGACTCCGATGTCTTAATCCGAGCCCCGACACACCCTGCTGCCCTTCGGACGCCTCCACGTCAGCGACCCTCTCCCGCGGTTTCCGGAAGCGCCTGGAAACACGAACTTCCGGTCTCTTAGGCTCCGGGCCACAGAGACGGTGTCAGTGGTAGCCTAGAGAGGCCGCTAACAGACAGGAGCCGAACGGGGGCTTCCGCTCAGCAGAGAGGCAAGATGGCTACGGCAGGGGGTGGCTCTGGGGCTGACCCGGGAAGTCGGGGTCTCCTTCGCCTTCTGTCTTTCTGCGTCCTACTAGCAGGTGAGGCCTCCCCGCCCGTGAGCTCCGTTCTCTAAGGGGAACTCTCGGATCGGCCCCGCCGCGACCGCCACTGTCTCCCTTCTGGTTCCTGCTGCCCCTCTGTCCCCCCACCCTGTAAATCCTCTTTCTTTTTCGTTCCCACGACAGAAGTTCCCCCTTTGCCTGGACCTGAAGGTCCCTTCTCCCCCGCAGCACGTCGTGTCGCTTCACTCCCTTCTCTAGGCCTCTTCCTGGACTTCGAGCCTGACCCTCTCCCACTTTGTCCAGATGTCTCGTTTTTCCCACAACCCCAGCCACCCACCCCACAGTCGAAAGGAACAGGTGTGAAAGTTAGCTTTCTTCCTCGCGTTTAGACTTTTTGAGACGAAAGCAATCTTGTTCTGTGGGTGCTGTGCGGCGCTTAAAAGGTGGATTTCTTATTTCTTCCTCTGTTGATTACATCCTAAGTCTGTGTCCCCCTGCCTTGCCTCAGGTTTTTTTTTTTTTTTTTTTTTTAATCAGTAAAGCAAGAATAAGGTAGGATATGGGTACTCTTAACTGTGAAGACCCTGAAGTAACAATTCAAGGAACTTTTGGCATTTATAATGTACTTAAGTGTTTGCTGATACGCGTTCATTTACTGATACATGGCTTTTTAGTTGGTCAAGCCCTAAAATGCAAATGCCTGTATATAACTATGACTGTGCCTTCCCCCAATTCACATTGTTTTTAAGGATCCTCAAAGGAGAAACTACAGCTGCCCCACACTGTGGGCACACAAATGACCTGCTGATGTTAAATTAACTGACCCGTGTATGTCATAAGGTTTCTCTCAATTCTGTTCACACTCTTGGAAAAATGCCTCAGAAAGTTTTCTTAGCCCAGCACCTGTGTATTAACCAATTAGTAATATACATACAGGATATACAAGCAGAAGTGTGATCACCTGTGCAACCAGAATCTGGCAAATCTAAGGTCAAACACCTTTCCTTTGACCAAGTTTTCTCTCTTTTAGTGTCACTGTCAATGGCGCTACATGGACTTTGTAATAACCCTTTGAGGCACATAGCTGGGTGCCATGTAGAACATGTATCTGTTACGATAAGTGTGTGCCCAAGAAATCAGAAGAATGGACTTTAATCTCATTTTAGAAAGTATGATATTAAATGATTTACCCAAGCCATACTTCAGGTTAATGACACGATAGAAGCTAGTACCTGTGTCTCTCAAATTTTTCTAACACTTTTTATCTTCCGATCAGGTTTGTGCAGGGGAAACTCAGTGGAGAGGAAGATATATATCCCCTTAAATAAAACAGCTCCCTGTGTTCGCCTGCTCAACGCCACTCATCAGATTGGCTGCCAGTGTGAGTTGAGATGGATTCATGTTTGTGGACATTGATATTTGTCTGTGCCCTAGATACTAAGTAACATCCATGTCCTGCTTAGGAGATTTGACACTTATATTGGACTGTATGTAGGCAGTTACAGATAACCGTCTGTCAAGCTAGGCAAGATAATTAATAAGAACTAACATTTAGTAAATGCTGCATACCAAGCTTTTTACATGTGCATCTCATACAACCCCAACCACAACCCCACAAAATAGGTCTTACTGTTATTGTCACTTTATAAATGATGAAACTAAAACTTAAAGAAGTTGAGTAACTTTCCCAAGATCATACTGGTAATAAGTGATGATGCCAGGATCTGGTGGCCCGAGCACTAAGCTGAGAGACCTTTTTTTTTTGACACGGAGTTTCACTCTTGTCCCCCAGGCTGGAGTGCAATGGCACGATCTCGGCTCACGGTGACCTCTGCCTTCTAGGTTCAAGTGATTCTCCTGCCTCAGCCTCTTGAGTAGCTGGGATTACATGCACCTGCCACCATGCCCAGCTAATTTTTGTATTTTTAGTAGAGATGGTGTTTCACCATGTTGGCCAGGCTGGTCTCGAACTCTTGACCTCAAGTGATCCACCCACCTTGGCCTCCCAAAATGCTGGGATTACAGGCGTGAGCCACCGCACCCAGCCGAGCCAGCACTCTTAACCACCCTATTATACTGTTTTTTAAGGAGAAAAAAGTCTCATATTCTATGGTGTCCAGTTATCACTTGCACTCTGAACTTTTTGGAACCAAAATGGGCTAAAGGCAATGAACTATCTGAAGAGAAGGCACTGAAAATGCCAAATAGGCTGGGCGCAGTGGCACATGCCTGTAATCCCAGCACTTCAGGAGGTCAAGGCGGGTGGATCACTTGAGGTCAGGAGTTTGAGACCAATCTGCCAGCATGGTGAAACCCCCCCATCTCTACTAAAAATACAAAAATTAGCCGGCTGGCTGCTATGGCATGCCTGTAGTCCTAGCTTCTCGGGAGGCGGAAGCAGAAGAATCCCTTGAGCCCAGGAGGCGGAGGTTGCAGTGAGCTGAGATTGTGCCACCATACTCCAGTATAGGTGACAGAGTGAGACACTGTCTGAAAAAAAAAAAAAAAAAAAAAAAGAAAATGCTGAATAATTGCAAGAGGAATTAGTGAAGCATTCTATTTATCCTTTTTTAAAACTTTTTTTCCTTAAATTCAACTGACAGGCCGTTTATTTTCACACTTTGTGTGTTCCAAAAGAAGGTTCCATGACACTGTGGCTTTAAAAACTATCAAAATCATAGGGCAGGAAAAGTAGTAATCTAAAGGCTAACCTGCTGTCTTCAGATTTTGTTTCCCATGGACAATAGCTCTGTCAGAATGTAGTTTTGCAGATAAGCAGGAAACTTGGGGTCTGATACTGGCTTCTTCATCATCAAATTGATCACCTCTGAATTTCAGTTTACCCCTGGAATAATGGTTGGAGTACTTGCATAAAGCTGAAAGTCAAATACCTCTTAATAGTTGTTTATTGATGACGCTAGGTAAATAGGGTGGTCTCAAAAGTGCTGTATAATTTCCTGAAGCCTTCTTCCCATTTGATAAGAGAAAACTGGGACACTGAGAAGTGAAGGACTTGTTCGTGGAAGCAGTTACTACTTTTTTAGCCATCTTTCCCTGAGCTATAGTATCTGTTAATTGTCCCATGTCCCTGCTATACAAAGCACTGGGAGTAGGTTGACTGGTTCCAAACAGCCCCAAATAAAGTTTTTGTTGTACTTAGTTTCTTTTTTTTTTTTTTGAGATGCAGTCTCGCCCTCTCGCCCAGGCTGGAGTGCAATGGCACAATCTCAGCTCACTGCAACTTCCTCCTCCCAGGTTAAAGCAATTCTCCTGTCTCAGCTTCTTGAATAGCTGGGATTACAGGCGCGTGCCACCGTGCCCAGCTAATTTTTTGT
CCTCCTTAAGTGAGGTTGCCACTACTCGTCTCCAAAAAGGCTACTGACTCGGGTGCGAGTAACAGAGATCGAGACTCAGTTCCCAGGGCCACTCCATATAACACAGTCATCAAAAAGCCAACAGATCACAGGGCCTTTGGAGCAGAACAACACAAATCGGGAGCACAGCCAAGAGAGAAAGGGGGAAGAAAGAATAGGGAGGGGGTCTAAGGAATCCCCTGCAGTGTGGGAGCCACTTTATAGGTAAATCGAAGCCCAAGGACACACCAAAGAAGAGGGGACTGGAGAACCGCTAGCCAGGCCCAACCTCTCTCCCACCCTCCGTCTTCCTCCGGGTCCGTCTGGTGGGCCCATTTCGACCAACACCTCTACCCATTTTCTCTTCCCCGGTGTCAGCGCCGCTCCTGACATCCAACCTCCATGTTCCCCCTTTTATTCTCCACTACCTTTGACCCGCGCGCTCTTGGTCTCGAATTTGGTTAACATCTCTCAGGTCTCCGACTCCGATGTCTTAATCCGAGCCCCGACACACCCTGCTGCCCTTCGGACGCCTCCACGTCAGCGACCCTCTCCCGCGGTTTCCGGAAGCGCCTGGAAACACGAACTTCCGGTCTCTTAGGCTCCGGGCCACAGAGACGGTGTCAGTGGTAGCCTAGAGAGGCCGCTAACAGACAGGAGCCGAACGGGGGCTTCCGCTCAGCAGAGAGGCAAGATGGCTACGGCAGGGGGTGGCTCTGGGGCTGACCCGGGAAGTCGGGGTCTCCTTCGCCTTCTGTCTTTCTGCGTCCTACTAGCAGGTGAGGCCTCCCCGCCCGTGAGCTCCGTTCTCTAAGGGGAACTCTCGGATCGGCCCCGCCGCGACCGCCACTGTCTCCCTTCTGGTTCCTGCTGCCCCTCTGTCCCCCCACCCTGTAAATCCTCTTTCTTTTTCGTTCCCACGACAGAAGTTCCCCCTTTGCCTGGACCTGAAGGTCCCTTCTCCCCCGCAGCACGTCGTGTCGCTTCACTCCCTTCTCTAGGCCTCTTCCTGGACTTCGAGCCTGACCCTCTCCCACTTTGTCCAGATGTCTCGTTTTTCCCACAACCCCAGCCACCCACCCCACAGTCGAAAGGAACAGGTGTGAAAGTTAGCTTTCTTCCTCGCGTTTAGACTTTTTGAGACGAAAGCAATCTTGTTCTGTGGGTGCTGTGCGGCGCTTAAAAGGTGGATTTCTTATTTCTTCCTCTGTTGATTACATCCTAAGTCTGTGTCCCCCTGCCTTGCCTCAGGTTTTTTTTTTTTTTTTTTTTTTAATCAGTAAAGCAAGAATAAGGTAGGATATGGGTACTCTTAACTGTGAAGACCCTGAAGTAACAATTCAAGGAACTTTTGGCATTTATAATGTACTTAAGTGTTTGCTGATACGCGTTCATTTACTGATACATGGCTTTTTAGTTGGTCAAGCCCTAAAATGCAAATGCCTGTATATAACTATGACTGTGCCTTCCCCCAATTCACATTGTTTTTAAGGATCCTCAAAGGAGAAACTACAGCTGCCCCACACTGTGGGCACACAAATGACCTGCTGATGTTAAATTAACTGACCCGTGTATGTCATAAGGTTTCTCTCAATTCTGTTCACACTCTTGGAAAAATGCCTCAGAAAGTTTTCTTAGCCCAGCACCTGTGTATTAACCAATTAGTAATATACATACAGGATATACAAGCAGAAGTGTGATCACCTGTGCAACCAGAATCTGGCAAATCTAAGGTCAAACACCTTTCCTTTGACCAAGTTTTCTCTCTTTTAGTGTCACTGTCAATGGCGCTACATGGACTTTGTAATAACCCTTTGAGGCACATAGCTGGGTGCCATGTAGAACATGTATCTGTTACGATAAGTGTGTGCCCAAGAAATCAGAAGAATGGACTTTAATCTCATTTTAGAAAGTATGATATTAAATGATTTACCCAAGCCATACTTCAGGTTAATGACACGATAGAAGCTAGTACCTGTGTCTCTCAAATTTTTCTAACACTTTTTATCTTCCGATCAGGTTTGTGCAGGAGAAACTCAGTGGAGAGGAAGATATATATCCCCTTAAATAAAACAGCTCCCTGTGTTCGCCTGCTCAACGCCACTCATCAGATTGGCTGCCAGTGTGAGTTGAGATGGATTCATGTTTGTGGACATTGATATTTGTCTGTGCCCTAGATACTAAGTAACATCCATGTCCTGCTTAGGAGATTTGACACTTATATTGGACTGTATGTAGGCAGTTACAGATAACCGTCTGTCAAGCTAGGCAAGATAATTAATAAGAACTAACATTTAGTAAATGCTGCATACCAAGCTTTTTACATGTGCATCTCATACAACCCCAACCACAACCCCACAAAATAGGTCTTACTGTTATTGTCACTTTATAAATGATGAAACTAAAACTTAAAGAAGTTGAGTAACTTTCCCAAGATCATACTGGTAATAAGTGATGATGCCAGGATCTGGTGGCCCGAGCACTAAGCTGAGAGACCTTTTTTTTTTGACACGGAGTTTCACTCTTGTCCCCCAGGCTGGAGTGCAATGGCACGATCTCGGCTCACGGTGACCTCTGCCTTCTAGGTTCAAGTGATTCTCCTGCCTCAGCCTCTTGAGTAGCTGGGATTACATGCACCTGCCACCATGCCCAGCTAATTTTTGTATTTTTAGTAGAGATGGTGTTTCACCATGTTGGCCAGGCTGGTCTCGAACTCTTGACCTCAAGTGATCCACCCACCTTGGCCTCCCAAAATGCTGGGATTACAGGCGTGAGCCACCGCACCCAGCCGAGCCAGCACTCTTAACCACCCTATTATACTGTTTTTTAAGGAGAAAAAAGTCTCATATTCTATGGTGTCCAGTTATCACTTGCACTCTGAACTTTTTGGAACCAAAATGGGCTAAAGGCAATGAACTATCTGAAGAGAAGGCACTGAAAATGCCAAATAGGCTGGGCGCAGTGGCACATGCCTGTAATCCCAGCACTTCAGGAGGTCAAGGCGGGTGGATCACTTGAGGTCAGGAGTTTGAGACCAATCTGCCAGCATGGTGAAACCCCCCCATCTCTACTAAAAATACAAAAATTAGCCGGCTGGCTGCTATGGCATGCCTGTAGTCCTAGCTTCTCGGGAGGCGGAAGCAGAAGAATCCCTTGAGCCCAGGAGGCGGAGGTTGCAGTGAGCTGAGATTGTGCCACCATACTCCAGTATAGGTGACAGAGTGAGACACTGTCTGAAAAAAAAAAAAAAAAAAAAAAAGAAAATGCTGAATAATTGCAAGAGGAATTAGTGAAGCATTCTATTTATCCTTTTTTAAAACTTTTTTTCCTTAAATTCAACTGACAGGCCGTTTATTTTCACACTTTGTGTGTTCCAAAAGAAGGTTCCATGACACTGTGGCTTTAAAAACTATCAAAATCATAGGGCAGGAAAAGTAGTAATCTAAAGGCTAACCTGCTGTCTTCAGATTTTGTTTCCCATGGACAATAGCTCTGTCAGAATGTAGTTTTGCAGATAAGCAGGAAACTTGGGGTCTGATACTGGCTTCTTCATCATCAAATTGATCACCTCTGAATTTCAGTTTACCCCTGGAATAATGGTTGGAGTACTTGCATAAAGCTGAAAGTCAAATACCTCTTAATAGTTGTTTATTGATGACGCTAGGTAAATAGGGTGGTCTCAAAAGTGCTGTATAATTTCCTGAAGCCTTCTTCCCATTTGATAAGAGAAAACTGGGACACTGAGAAGTGAAGGACTTGTTCGTGGAAGCAGTTACTACTTTTTTAGCCATCTTTCCCTGAGCTATAGTATCTGTTAATTGTCCCATGTCCCTGCTATACAAAGCACTGGGAGTAGGTTGACTGGTTCCAAACAGCCCCAAATAAAGTTTTTGTTGTACTTAGTTTCTTTTTTTTTTTTTTGAGATGCAGTCTCGCCCTCTCGCCCAGGCTGGAGTGCAATGGCACAATCTCAGCTCACTGCAACTTCCTCCTCCCAGGTTAAAGCAATTCTCCTGTCTCAGCTTCTTGAATAGCTGGGATTACAGGCGCGTGCCACCGTGCCCAGCTAATTTTTTGT
Task1_train_1975
Given this context: Chromosome 1, gene NECTIN4 (nectin cell adhesion molecule 4) — does this variant present pathogenic behavior, and if so, what disease does it relate to?
Pathogenic; Ectodermal dysplasia-syndactyly syndrome 1
ATCACACCCACCACCACCACCGAGGCTGACACTAGGTCCACCTGCTTCCCAGAGTCTTCCTGGGGGTCTGCTGGAGACAGGCCACTGTCTGAGGTGGAAGCCTGCAGCCACAACCCACCCCAGACCTCACAGCTCCCCCGCAAAACATCTAAAACCACACCTCAGTTTGATTCTCTGCAAGACACACAGCCCAGCCCCCTCTGAATAAACACTTTCCCAATTCACTGTCTCTGTCTTGCTTCCTGCTGCCCCCACCAAGCCCTTGGCCCAGGTCCTTACCAAGGACTTCTGCTCCAGTGCTTACCAAGAACATCCACAGTGACCTGAGAATCCCTTGAGGAGAACTCATTGCTGACATGGCAGACGTAGATGCCGCTGTGCTCAGTGGTCAGTGGGGGAAAGCCCAAAGTGTCCCCATCCACTCGTACCCCACTGGGCAGAGGCCCATCCAGCCTGGAAGACAGGGAAGCTGAAGGGTGCCAGCCGGGAAGGGCTGAAGCCACCACCACCCAACGTGTCCAGACAGCTCTCCACCCTCCACCCCCATGACGTCACCCAGAGCCGCAGGCTGTTCCCACGGTGCCCCTCCCTCCACCAGGCAGGTCTAGGCAGAGGTCCTTTCTCCCTGCTGCCCAGCCTGACCTGGGCACCCCCCACACACACCCGGGGAAGATCCACACGTGTGCCATCCCACATGCTTCCACAGGCATCACGTCATCCAACACTGGGTACCAGGTACACATGTTATAAAGTCCACACAACAGGACACTCCACTCCTAGCTGGGTGTAGAGGTAATTGGAAAATGTGACTGCCTGCTCCAACACCCGTGATGTTGCATGGCAGGATACACAAACATAGCCCCAGGCACAAGGCCACATGCATCGCTCATATGCTCACATGTGAGAACATGCCCATGATGTGCTCACACACATGTGTACCCAACCTCTCCCTGACTCTCTAGATATTTCAGATCTTGGAAAAAGGCCAAGGATGCCTTGAGGGAACTGGAGGTAGTGGGTGTTTTTGAGGTGCTAGCAATATTGTGGTGGTTATAGGAGTGTTGGCTTAACAACAATTAGAAAAAGACACAGCTGTCTTGTCCATTTTATGCACTCACATAAATATATAAAATATTAATATCGAAATATTGTGTTATATTTCACAATTTAAAAGTTAGACAAGGCCGGGCATGGTGGCTCACGCCTATAATTCCAGCACTTTGGGAGGCCGAGGCTGGCGGATCACCCGAGGTCAGCAGTTCGAGACCAGCGTGGTCAACATGGTGAAAGCCCATCTCTACTAAAAATACAAAAAACTAGCTGGGCATGCTGGCACACACCTGTAATCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATCTCTTGAACCTGGCAGGCAGAGGTTGCAGTGAGCCAAGATCGCACCACTGCACTCCAGCCTGGGCAACAGAGTGAAACTCCATCTCAAAAAAATAAAAATAAAAGACAAGGGCTGGGCGTGGTGGCTCACGCCTGTAATCACAGTACTTTGGAAGGCCAACGTGGGCAGATCACAAGGTCTAGAGATCGAGACCAGCCTGGCCAACATGGTAAAACCCCATCTCTACTAAAAATACAAAAATTAGCTGGGGTTGGTGGCGCGCACCTGTAATCCCAGCTACTCAGGAGGCTGAGGCAGGAGAACTGCTTGAACCCAGGAGGCGGAGGTTTCAGTGAGCCGAGATCATGCCACTGCACTCCAGCCTGGCGACAGAGCAAGACTCCGTCTCAAAACTAAAATAAATAAAATAAAAGACAAAAAATTTAAGGGCTTATCCATTTATTCCCTACTAATGACCATGTATCTTAGATTCCCTGGGCAAGCCAATAATATTTGGTGACCATACATATTCTTGTATGATGAGTATAATAATACAAGAGATCTGAACACATACCCCAATTTATTTGGGGGCTCAGAATATGTTGTCCCATTCCATAGTGGTATATCCTGGCCCTGAGAGGGGAGGAACCTAGTCTCAAGTTAGGCCTTCCTCAGGCTCGGGCCCTTACCGTGTCCAGTTGTATGAGGGAGGGGGCTGCCCTTCACTCAGGCACTTGAGCATAGCTCCTTCTCTGCCAATGTGCCACAGATTTTGGTCTTCAAGGCCCCTCACAGAGGCCTCAGCAAGGACTGGAATGGGAAGTGGGAGGAGAAAGAATGGGAATGATGCCTTTGATCATGTGGTACCTCAAAGGGCCCTGCCCCCACCCCACCCTGCCTGAAACACCCTCCCCTTGCCCTTCTCCATCCTACTCATCTGCTGCCAAACCTAGCTCAGCCCCACCCTGCTGACAGCTCCTGGCCACACTGTTCCCTCCCCTCTCTAAGCTCAGAGAGTCTGTATTGGTTTACCTGTACAATGAGACCATAAGTCCCTCAAGGTAGTGATCCATCACACATTTTCTGGATGTCCTGTGTTGCCTAGCATAGTGCTAGTCATAGAACAGGTGCTGAATAAATGTTGCCTGATTTTTCAAAGGTGTAACAATCCTACTAGTTCATTCATTTCTTCAACAAACATTTGTTGAGGACCTGCTTTGAGCCAAATGCTGACAGTCTTATCCCCTCCAGAGGCTTGAAATCTAGCACTGGGAAAACAATATCTACCATTTACCAAGCGCCTTCCATGCGCTAAGCACTGTGTGAGTTGCTCTGCATTCATAGTTTCTAATTCCCATCAAAACCCTCTAAAGTTGGTATGAGTTATATATAATTATACCCATTTTGCTGATGAAGAAAATGAAGCCTAACAAGAATGAATAACAGCTGGTAAGTAGAACTAGGGCTTGTCTAAGTTTATCTATTTCCAAATCCTAAACTAATATTTTAGAAAGTGCTTTCAATTCCATGTTTCTAATTGATTCTCCCAACAACCCTGTGAAACAAGGCAATCTCCTTTGTAAAGATAAGGACACAGAAGCTCAGAGAGGTCTATCCTCTGGGATCGGGCTCCAGGTCTTCCACATTTGGACTAGTGCTCTGTCACATACTATATATAGCCTCCAGGACCCAGGCTGGCCAGCCTGGCATGGCTCAGGGACCTGTGGCATCTCACCAATCTGCTGAGAACCCCTTGGGCCTCCCTACCCAAGCATCCAAGTACTTACAGGACACGTGGAGGATGTGGGTGATCCTTTGGTCCTGGAGCAGGCCAGGATGGGACACCACACAAGTCAGTGGCTGCCCATTCATGCTGCGGCTAGGCACCAAGTGGAACTCTGAGGTGACGGCAGCAGAGCGGGAGTGCTTGAAGGAACGGCTGGACGTTGTGCCTTTGACCTCCGTGTCCCAGGTCACGCTGGGGGCTGGGCTGCCCTCAGCTGTGCAGGAGGCTGCCAGGGTCAGGCCCTGGCCCTCTTCTAGTGCTGGACCAGGATTCAGTGAGGGCAGGGGAGGCACTGCAAATGGGGAAAGGCAGGGGTCACAGGTCTACACAATCCCTGTCAGGAGGCCCCCACTCATCGCATTTCAGTCTTGCACAAGTACAAACTTTCAGGCCCCCTTTCCTTCTCTTATTTCATGGAGACGCAGATGAATGGTAGAAATTCAGGTGACTTTGTATCCTTCTCTACTGTGCGAATTTTTTACAATGAACGTAGGTTATTTTAAAAAATAAAATAATGAAGTAATTAAAAAACTAACCAGATATCATCTACCTAATAATAATAACCACCATCTAGTAAGCATTTACTATGTGTCAACTATTATGCTAAATACCTTATAAATGTTATCTCAAATTCTGTCAACAAACAGTGAGTTAGGTATTATTATCTCTATTTTCCAGATGAGGAAACCAAAGCACAAGGAAGTTAAGTGACTATCCCAAGTCATCAGCTATTAGGTGACAAAGCCTAGATTTACACTTGGGTTTTTATTTTTACTCCAAGGCTGATGTTATTAACTTATATGTGAATAAAGGGAAACTATAAAAACCTTTATTTTATGTATTTATTTATTTATTTATTTATTTATCTACTTGTGAGACTGAGTCTCCGTCTGTTGCCCAGGCTGGAGTGCAGTGGCATGATCTCGGCTCACTGCAATCTCCGCCTCCTGG
ATCACACCCACCACCACCACCGAGGCTGACACTAGGTCCACCTGCTTCCCAGAGTCTTCCTGGGGGTCTGCTGGAGACAGGCCACTGTCTGAGGTGGAAGCCTGCAGCCACAACCCACCCCAGACCTCACAGCTCCCCCGCAAAACATCTAAAACCACACCTCAGTTTGATTCTCTGCAAGACACACAGCCCAGCCCCCTCTGAATAAACACTTTCCCAATTCACTGTCTCTGTCTTGCTTCCTGCTGCCCCCACCAAGCCCTTGGCCCAGGTCCTTACCAAGGACTTCTGCTCCAGTGCTTACCAAGAACATCCACAGTGACCTGAGAATCCCTTGAGGAGAACTCATTGCTGACATGGCAGACGTAGATGCCGCTGTGCTCAGTGGTCAGTGGGGGAAAGCCCAAAGTGTCCCCATCCACTCGTACCCCACTGGGCAGAGGCCCATCCAGCCTGGAAGACAGGGAAGCTGAAGGGTGCCAGCCGGGAAGGGCTGAAGCCACCACCACCCAACGTGTCCAGACAGCTCTCCACCCTCCACCCCCATGACGTCACCCAGAGCCGCAGGCTGTTCCCACGGTGCCCCTCCCTCCACCAGGCAGGTCTAGGCAGAGGTCCTTTCTCCCTGCTGCCCAGCCTGACCTGGGCACCCCCCACACACACCCGGGGAAGATCCACACGTGTGCCATCCCACATGCTTCCACAGGCATCACGTCATCCAACACTGGGTACCAGGTACACATGTTATAAAGTCCACACAACAGGACACTCCACTCCTAGCTGGGTGTAGAGGTAATTGGAAAATGTGACTGCCTGCTCCAACACCCGTGATGTTGCATGGCAGGATACACAAACATAGCCCCAGGCACAAGGCCACATGCATCGCTCATATGCTCACATGTGAGAACATGCCCATGATGTGCTCACACACATGTGTACCCAACCTCTCCCTGACTCTCTAGATATTTCAGATCTTGGAAAAAGGCCAAGGATGCCTTGAGGGAACTGGAGGTAGTGGGTGTTTTTGAGGTGCTAGCAATATTGTGGTGGTTATAGGAGTGTTGGCTTAACAACAATTAGAAAAAGACACAGCTGTCTTGTCCATTTTATGCACTCACATAAATATATAAAATATTAATATCGAAATATTGTGTTATATTTCACAATTTAAAAGTTAGACAAGGCCGGGCATGGTGGCTCACGCCTATAATTCCAGCACTTTGGGAGGCCGAGGCTGGCGGATCACCCGAGGTCAGCAGTTCGAGACCAGCGTGGTCAACATGGTGAAAGCCCATCTCTACTAAAAATACAAAAAACTAGCTGGGCATGCTGGCACACACCTGTAATCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATCTCTTGAACCTGGCAGGCAGAGGTTGCAGTGAGCCAAGATCGCACCACTGCACTCCAGCCTGGGCAACAGAGTGAAACTCCATCTCAAAAAAATAAAAATAAAAGACAAGGGCTGGGCGTGGTGGCTCACGCCTGTAATCACAGTACTTTGGAAGGCCAACGTGGGCAGATCACAAGGTCTAGAGATCGAGACCAGCCTGGCCAACATGGTAAAACCCCATCTCTACTAAAAATACAAAAATTAGCTGGGGTTGGTGGCGCGCACCTGTAATCCCAGCTACTCAGGAGGCTGAGGCAGGAGAACTGCTTGAACCCAGGAGGCGGAGGTTTCAGTGAGCCGAGATCATGCCACTGCACTCCAGCCTGGCGACAGAGCAAGACTCCGTCTCAAAACTAAAATAAATAAAATAAAAGACAAAAAATTTAAGGGCTTATCCATTTATTCCCTACTAATGACCATGTATCTTAGATTCCCTGGGCAAGCCAATAATATTTGGTGACCATACATATTCTTGTATGATGAGTATAATAATACAAGAGATCTGAACACATACCCCAATTTATTTGGGGGCTCAGAATATGTTGTCCCATTCCATAGTGGTATATCCTGGCCCTGAGAGGGGAGGAACCTAGTCTCAAGTTAGGCCTTCCTCAGGCTCGGGCCCTTACTGTGTCCAGTTGTATGAGGGAGGGGGCTGCCCTTCACTCAGGCACTTGAGCATAGCTCCTTCTCTGCCAATGTGCCACAGATTTTGGTCTTCAAGGCCCCTCACAGAGGCCTCAGCAAGGACTGGAATGGGAAGTGGGAGGAGAAAGAATGGGAATGATGCCTTTGATCATGTGGTACCTCAAAGGGCCCTGCCCCCACCCCACCCTGCCTGAAACACCCTCCCCTTGCCCTTCTCCATCCTACTCATCTGCTGCCAAACCTAGCTCAGCCCCACCCTGCTGACAGCTCCTGGCCACACTGTTCCCTCCCCTCTCTAAGCTCAGAGAGTCTGTATTGGTTTACCTGTACAATGAGACCATAAGTCCCTCAAGGTAGTGATCCATCACACATTTTCTGGATGTCCTGTGTTGCCTAGCATAGTGCTAGTCATAGAACAGGTGCTGAATAAATGTTGCCTGATTTTTCAAAGGTGTAACAATCCTACTAGTTCATTCATTTCTTCAACAAACATTTGTTGAGGACCTGCTTTGAGCCAAATGCTGACAGTCTTATCCCCTCCAGAGGCTTGAAATCTAGCACTGGGAAAACAATATCTACCATTTACCAAGCGCCTTCCATGCGCTAAGCACTGTGTGAGTTGCTCTGCATTCATAGTTTCTAATTCCCATCAAAACCCTCTAAAGTTGGTATGAGTTATATATAATTATACCCATTTTGCTGATGAAGAAAATGAAGCCTAACAAGAATGAATAACAGCTGGTAAGTAGAACTAGGGCTTGTCTAAGTTTATCTATTTCCAAATCCTAAACTAATATTTTAGAAAGTGCTTTCAATTCCATGTTTCTAATTGATTCTCCCAACAACCCTGTGAAACAAGGCAATCTCCTTTGTAAAGATAAGGACACAGAAGCTCAGAGAGGTCTATCCTCTGGGATCGGGCTCCAGGTCTTCCACATTTGGACTAGTGCTCTGTCACATACTATATATAGCCTCCAGGACCCAGGCTGGCCAGCCTGGCATGGCTCAGGGACCTGTGGCATCTCACCAATCTGCTGAGAACCCCTTGGGCCTCCCTACCCAAGCATCCAAGTACTTACAGGACACGTGGAGGATGTGGGTGATCCTTTGGTCCTGGAGCAGGCCAGGATGGGACACCACACAAGTCAGTGGCTGCCCATTCATGCTGCGGCTAGGCACCAAGTGGAACTCTGAGGTGACGGCAGCAGAGCGGGAGTGCTTGAAGGAACGGCTGGACGTTGTGCCTTTGACCTCCGTGTCCCAGGTCACGCTGGGGGCTGGGCTGCCCTCAGCTGTGCAGGAGGCTGCCAGGGTCAGGCCCTGGCCCTCTTCTAGTGCTGGACCAGGATTCAGTGAGGGCAGGGGAGGCACTGCAAATGGGGAAAGGCAGGGGTCACAGGTCTACACAATCCCTGTCAGGAGGCCCCCACTCATCGCATTTCAGTCTTGCACAAGTACAAACTTTCAGGCCCCCTTTCCTTCTCTTATTTCATGGAGACGCAGATGAATGGTAGAAATTCAGGTGACTTTGTATCCTTCTCTACTGTGCGAATTTTTTACAATGAACGTAGGTTATTTTAAAAAATAAAATAATGAAGTAATTAAAAAACTAACCAGATATCATCTACCTAATAATAATAACCACCATCTAGTAAGCATTTACTATGTGTCAACTATTATGCTAAATACCTTATAAATGTTATCTCAAATTCTGTCAACAAACAGTGAGTTAGGTATTATTATCTCTATTTTCCAGATGAGGAAACCAAAGCACAAGGAAGTTAAGTGACTATCCCAAGTCATCAGCTATTAGGTGACAAAGCCTAGATTTACACTTGGGTTTTTATTTTTACTCCAAGGCTGATGTTATTAACTTATATGTGAATAAAGGGAAACTATAAAAACCTTTATTTTATGTATTTATTTATTTATTTATTTATTTATCTACTTGTGAGACTGAGTCTCCGTCTGTTGCCCAGGCTGGAGTGCAGTGGCATGATCTCGGCTCACTGCAATCTCCGCCTCCTGG
Task1_train_1976
This gene mutation involves NECTIN4 (nectin cell adhesion molecule 4) on Chromosome 1. Is it associated with any clinical condition, or is it benign?
Pathogenic; Ectodermal dysplasia-syndactyly syndrome 1
TTTTATGCACTCACATAAATATATAAAATATTAATATCGAAATATTGTGTTATATTTCACAATTTAAAAGTTAGACAAGGCCGGGCATGGTGGCTCACGCCTATAATTCCAGCACTTTGGGAGGCCGAGGCTGGCGGATCACCCGAGGTCAGCAGTTCGAGACCAGCGTGGTCAACATGGTGAAAGCCCATCTCTACTAAAAATACAAAAAACTAGCTGGGCATGCTGGCACACACCTGTAATCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATCTCTTGAACCTGGCAGGCAGAGGTTGCAGTGAGCCAAGATCGCACCACTGCACTCCAGCCTGGGCAACAGAGTGAAACTCCATCTCAAAAAAATAAAAATAAAAGACAAGGGCTGGGCGTGGTGGCTCACGCCTGTAATCACAGTACTTTGGAAGGCCAACGTGGGCAGATCACAAGGTCTAGAGATCGAGACCAGCCTGGCCAACATGGTAAAACCCCATCTCTACTAAAAATACAAAAATTAGCTGGGGTTGGTGGCGCGCACCTGTAATCCCAGCTACTCAGGAGGCTGAGGCAGGAGAACTGCTTGAACCCAGGAGGCGGAGGTTTCAGTGAGCCGAGATCATGCCACTGCACTCCAGCCTGGCGACAGAGCAAGACTCCGTCTCAAAACTAAAATAAATAAAATAAAAGACAAAAAATTTAAGGGCTTATCCATTTATTCCCTACTAATGACCATGTATCTTAGATTCCCTGGGCAAGCCAATAATATTTGGTGACCATACATATTCTTGTATGATGAGTATAATAATACAAGAGATCTGAACACATACCCCAATTTATTTGGGGGCTCAGAATATGTTGTCCCATTCCATAGTGGTATATCCTGGCCCTGAGAGGGGAGGAACCTAGTCTCAAGTTAGGCCTTCCTCAGGCTCGGGCCCTTACCGTGTCCAGTTGTATGAGGGAGGGGGCTGCCCTTCACTCAGGCACTTGAGCATAGCTCCTTCTCTGCCAATGTGCCACAGATTTTGGTCTTCAAGGCCCCTCACAGAGGCCTCAGCAAGGACTGGAATGGGAAGTGGGAGGAGAAAGAATGGGAATGATGCCTTTGATCATGTGGTACCTCAAAGGGCCCTGCCCCCACCCCACCCTGCCTGAAACACCCTCCCCTTGCCCTTCTCCATCCTACTCATCTGCTGCCAAACCTAGCTCAGCCCCACCCTGCTGACAGCTCCTGGCCACACTGTTCCCTCCCCTCTCTAAGCTCAGAGAGTCTGTATTGGTTTACCTGTACAATGAGACCATAAGTCCCTCAAGGTAGTGATCCATCACACATTTTCTGGATGTCCTGTGTTGCCTAGCATAGTGCTAGTCATAGAACAGGTGCTGAATAAATGTTGCCTGATTTTTCAAAGGTGTAACAATCCTACTAGTTCATTCATTTCTTCAACAAACATTTGTTGAGGACCTGCTTTGAGCCAAATGCTGACAGTCTTATCCCCTCCAGAGGCTTGAAATCTAGCACTGGGAAAACAATATCTACCATTTACCAAGCGCCTTCCATGCGCTAAGCACTGTGTGAGTTGCTCTGCATTCATAGTTTCTAATTCCCATCAAAACCCTCTAAAGTTGGTATGAGTTATATATAATTATACCCATTTTGCTGATGAAGAAAATGAAGCCTAACAAGAATGAATAACAGCTGGTAAGTAGAACTAGGGCTTGTCTAAGTTTATCTATTTCCAAATCCTAAACTAATATTTTAGAAAGTGCTTTCAATTCCATGTTTCTAATTGATTCTCCCAACAACCCTGTGAAACAAGGCAATCTCCTTTGTAAAGATAAGGACACAGAAGCTCAGAGAGGTCTATCCTCTGGGATCGGGCTCCAGGTCTTCCACATTTGGACTAGTGCTCTGTCACATACTATATATAGCCTCCAGGACCCAGGCTGGCCAGCCTGGCATGGCTCAGGGACCTGTGGCATCTCACCAATCTGCTGAGAACCCCTTGGGCCTCCCTACCCAAGCATCCAAGTACTTACAGGACACGTGGAGGATGTGGGTGATCCTTTGGTCCTGGAGCAGGCCAGGATGGGACACCACACAAGTCAGTGGCTGCCCATTCATGCTGCGGCTAGGCACCAAGTGGAACTCTGAGGTGACGGCAGCAGAGCGGGAGTGCTTGAAGGAACGGCTGGACGTTGTGCCTTTGACCTCCGTGTCCCAGGTCACGCTGGGGGCTGGGCTGCCCTCAGCTGTGCAGGAGGCTGCCAGGGTCAGGCCCTGGCCCTCTTCTAGTGCTGGACCAGGATTCAGTGAGGGCAGGGGAGGCACTGCAAATGGGGAAAGGCAGGGGTCACAGGTCTACACAATCCCTGTCAGGAGGCCCCCACTCATCGCATTTCAGTCTTGCACAAGTACAAACTTTCAGGCCCCCTTTCCTTCTCTTATTTCATGGAGACGCAGATGAATGGTAGAAATTCAGGTGACTTTGTATCCTTCTCTACTGTGCGAATTTTTTACAATGAACGTAGGTTATTTTAAAAAATAAAATAATGAAGTAATTAAAAAACTAACCAGATATCATCTACCTAATAATAATAACCACCATCTAGTAAGCATTTACTATGTGTCAACTATTATGCTAAATACCTTATAAATGTTATCTCAAATTCTGTCAACAAACAGTGAGTTAGGTATTATTATCTCTATTTTCCAGATGAGGAAACCAAAGCACAAGGAAGTTAAGTGACTATCCCAAGTCATCAGCTATTAGGTGACAAAGCCTAGATTTACACTTGGGTTTTTATTTTTACTCCAAGGCTGATGTTATTAACTTATATGTGAATAAAGGGAAACTATAAAAACCTTTATTTTATGTATTTATTTATTTATTTATTTATTTATCTACTTGTGAGACTGAGTCTCCGTCTGTTGCCCAGGCTGGAGTGCAGTGGCATGATCTCGGCTCACTGCAATCTCCGCCTCCTGGGTTCAAGCAATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGTGCGCACCACCACACCCAGCTGATTTTTGTATTTTTAGTAGAGATGGGGTTTCACCATGTTGGCCAGGCTGGTCTCGAACTCCTGACCTCAGGTGGTCTGCCCACCTCAGCCTCCCAAAGTGCTGGGATTACAGGGCATGAGCCACCTCACCCAGCCAAAAACCTTTATTTTTACCTTCAAAATATTAACACAGAATGGAAAAGACTTAACTTGACCGTAAGTCCAGAGTTCACCACAAGTGCCCACAATATAAAGTGATGGTTTAAAAAGTGATTGTGGCTGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCAAGACGAGCGGATCACGAGGTCAGGAGATCGAGACCATCCTGGCTAACACGGTGAAACCTTGTCTCTACTAAAAATACACAAAAATTAACTGGGCGTGGTGGTGGGCGCCTGTAGACCCAGCTACTCGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGATCGCGCCAATGCACTCCAGCCTGGGCGACAGAGCGAGACTCTGTCTCAAAAAATAAAAAAAGCGATTGTGATCTCAGACCACATTCACTGAAGGTCCATATCAAGGAAGGTATTAGCTCCTCTGATCGTGTATGGCCACACCATTGCTGGGCCTGTGTTCACATTCAGGACCCACATTGTAAAAAATACCATGGAGCACAGGATGGTGAGAGAGGCTTTGAAATTGTCTTTGGTGGAACTGTGTCAGGAACCAGTAAGTTTAGCTTGGAGAAGAGTAGATTTGGGTGGGGCACGACAAAGGGCCTCTGCTTTTGGAAAGGTTGTTGTGCAGAAAAGAGAATAAGCCAGTGCCATATTGCCACAGGGCAAAAGTAACAGAGGGAGTTTCATGTCGTCGGAAGGAAGAACTTCCTAATAAATGGATTCTTCCCCAGCTTTTGGGGTTACTTGGAGAGAATTTCTGGATTGGGTGCGAGGATAGCTAGCTGGATGAAGCTCCCTCACCTGAACATGACCCCACTTTTTATTCCTGTTCTACCTCT
TTTTATGCACTCACATAAATATATAAAATATTAATATCGAAATATTGTGTTATATTTCACAATTTAAAAGTTAGACAAGGCCGGGCATGGTGGCTCACGCCTATAATTCCAGCACTTTGGGAGGCCGAGGCTGGCGGATCACCCGAGGTCAGCAGTTCGAGACCAGCGTGGTCAACATGGTGAAAGCCCATCTCTACTAAAAATACAAAAAACTAGCTGGGCATGCTGGCACACACCTGTAATCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATCTCTTGAACCTGGCAGGCAGAGGTTGCAGTGAGCCAAGATCGCACCACTGCACTCCAGCCTGGGCAACAGAGTGAAACTCCATCTCAAAAAAATAAAAATAAAAGACAAGGGCTGGGCGTGGTGGCTCACGCCTGTAATCACAGTACTTTGGAAGGCCAACGTGGGCAGATCACAAGGTCTAGAGATCGAGACCAGCCTGGCCAACATGGTAAAACCCCATCTCTACTAAAAATACAAAAATTAGCTGGGGTTGGTGGCGCGCACCTGTAATCCCAGCTACTCAGGAGGCTGAGGCAGGAGAACTGCTTGAACCCAGGAGGCGGAGGTTTCAGTGAGCCGAGATCATGCCACTGCACTCCAGCCTGGCGACAGAGCAAGACTCCGTCTCAAAACTAAAATAAATAAAATAAAAGACAAAAAATTTAAGGGCTTATCCATTTATTCCCTACTAATGACCATGTATCTTAGATTCCCTGGGCAAGCCAATAATATTTGGTGACCATACATATTCTTGTATGATGAGTATAATAATACAAGAGATCTGAACACATACCCCAATTTATTTGGGGGCTCAGAATATGTTGTCCCATTCCATAGTGGTATATCCTGGCCCTGAGAGGGGAGGAACCTAGTCTCAAGTTAGGCCTTCCTCAGGCTCGGGCCCTTACCGTGTCCAGTTGTATGAGGGAGGGGGCTGCCCTTCACTCAGGCACTTGAGCATAGCTCCTTCTCTGCCAATGTGCCACAGATTTTGGTCTTCAAGGCCCCTCACAGAGGCCTCAGCAAGGACTGGAATGGGAAGTGGGAGGAGAAAGAATGGGAATGATGCCTTTGATCATGTGGTACCTCAAAGGGCCCTGCCCCCACCCCACCCTGCCTGAAACACCCTCCCCTTGCCCTTCTCCATCCTACTCATCTGCTGCCAAACCTAGCTCAGCCCCACCCTGCTGACAGCTCCTGGCCACACTGTTCCCTCCCCTCTCTAAGCTCAGAGAGTCTGTATTGGTTTACCTGTACAATGAGACCATAAGTCCCTCAAGGTAGTGATCCATCACACATTTTCTGGATGTCCTGTGTTGCCTAGCATAGTGCTAGTCATAGAACAGGTGCTGAATAAATGTTGCCTGATTTTTCAAAGGTGTAACAATCCTACTAGTTCATTCATTTCTTCAACAAACATTTGTTGAGGACCTGCTTTGAGCCAAATGCTGACAGTCTTATCCCCTCCAGAGGCTTGAAATCTAGCACTGGGAAAACAATATCTACCATTTACCAAGCGCCTTCCATGCGCTAAGCACTGTGTGAGTTGCTCTGCATTCATAGTTTCTAATTCCCATCAAAACCCTCTAAAGTTGGTATGAGTTATATATAATTATACCCATTTTGCTGATGAAGAAAATGAAGCCTAACAAGAATGAATAACAGCTGGTAAGTAGAACTAGGGCTTGTCTAAGTTTATCTATTTCCAAATCCTAAACTAATATTTTAGAAAGTGCTTTCAATTCCATGTTTCTAATTGATTCTCCCAACAACCCTGTGAAACAAGGCAATCTCCTTTGTAAAGATAAGGACACAGAAGCTCAGAGAGGTCTATCCTCTGGGATCGGGCTCCAGGTCTTCCACATTTGGACTAGTGCTCTGTCACATACTATATATAGCCTCCAGGACCCAGGCTGGCCAGCCTGGCATGGCTCAGGGACCTGTGGCATCTCACCAATCTGCTGAGAACCCCTTGGGCCTCCCTACCCAAGCATCCAAGTACTTACAGGACATGTGGAGGATGTGGGTGATCCTTTGGTCCTGGAGCAGGCCAGGATGGGACACCACACAAGTCAGTGGCTGCCCATTCATGCTGCGGCTAGGCACCAAGTGGAACTCTGAGGTGACGGCAGCAGAGCGGGAGTGCTTGAAGGAACGGCTGGACGTTGTGCCTTTGACCTCCGTGTCCCAGGTCACGCTGGGGGCTGGGCTGCCCTCAGCTGTGCAGGAGGCTGCCAGGGTCAGGCCCTGGCCCTCTTCTAGTGCTGGACCAGGATTCAGTGAGGGCAGGGGAGGCACTGCAAATGGGGAAAGGCAGGGGTCACAGGTCTACACAATCCCTGTCAGGAGGCCCCCACTCATCGCATTTCAGTCTTGCACAAGTACAAACTTTCAGGCCCCCTTTCCTTCTCTTATTTCATGGAGACGCAGATGAATGGTAGAAATTCAGGTGACTTTGTATCCTTCTCTACTGTGCGAATTTTTTACAATGAACGTAGGTTATTTTAAAAAATAAAATAATGAAGTAATTAAAAAACTAACCAGATATCATCTACCTAATAATAATAACCACCATCTAGTAAGCATTTACTATGTGTCAACTATTATGCTAAATACCTTATAAATGTTATCTCAAATTCTGTCAACAAACAGTGAGTTAGGTATTATTATCTCTATTTTCCAGATGAGGAAACCAAAGCACAAGGAAGTTAAGTGACTATCCCAAGTCATCAGCTATTAGGTGACAAAGCCTAGATTTACACTTGGGTTTTTATTTTTACTCCAAGGCTGATGTTATTAACTTATATGTGAATAAAGGGAAACTATAAAAACCTTTATTTTATGTATTTATTTATTTATTTATTTATTTATCTACTTGTGAGACTGAGTCTCCGTCTGTTGCCCAGGCTGGAGTGCAGTGGCATGATCTCGGCTCACTGCAATCTCCGCCTCCTGGGTTCAAGCAATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGTGCGCACCACCACACCCAGCTGATTTTTGTATTTTTAGTAGAGATGGGGTTTCACCATGTTGGCCAGGCTGGTCTCGAACTCCTGACCTCAGGTGGTCTGCCCACCTCAGCCTCCCAAAGTGCTGGGATTACAGGGCATGAGCCACCTCACCCAGCCAAAAACCTTTATTTTTACCTTCAAAATATTAACACAGAATGGAAAAGACTTAACTTGACCGTAAGTCCAGAGTTCACCACAAGTGCCCACAATATAAAGTGATGGTTTAAAAAGTGATTGTGGCTGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCAAGACGAGCGGATCACGAGGTCAGGAGATCGAGACCATCCTGGCTAACACGGTGAAACCTTGTCTCTACTAAAAATACACAAAAATTAACTGGGCGTGGTGGTGGGCGCCTGTAGACCCAGCTACTCGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGATCGCGCCAATGCACTCCAGCCTGGGCGACAGAGCGAGACTCTGTCTCAAAAAATAAAAAAAGCGATTGTGATCTCAGACCACATTCACTGAAGGTCCATATCAAGGAAGGTATTAGCTCCTCTGATCGTGTATGGCCACACCATTGCTGGGCCTGTGTTCACATTCAGGACCCACATTGTAAAAAATACCATGGAGCACAGGATGGTGAGAGAGGCTTTGAAATTGTCTTTGGTGGAACTGTGTCAGGAACCAGTAAGTTTAGCTTGGAGAAGAGTAGATTTGGGTGGGGCACGACAAAGGGCCTCTGCTTTTGGAAAGGTTGTTGTGCAGAAAAGAGAATAAGCCAGTGCCATATTGCCACAGGGCAAAAGTAACAGAGGGAGTTTCATGTCGTCGGAAGGAAGAACTTCCTAATAAATGGATTCTTCCCCAGCTTTTGGGGTTACTTGGAGAGAATTTCTGGATTGGGTGCGAGGATAGCTAGCTGGATGAAGCTCCCTCACCTGAACATGACCCCACTTTTTATTCCTGTTCTACCTCT
Task1_train_1977
A sequence alteration has been identified in NECTIN4 (nectin cell adhesion molecule 4) on Chromosome 1. Is it disease-inducing or harmless?
Pathogenic; Ectodermal dysplasia-syndactyly syndrome 1
GTGGCTCACGCCTATAATTCCAGCACTTTGGGAGGCCGAGGCTGGCGGATCACCCGAGGTCAGCAGTTCGAGACCAGCGTGGTCAACATGGTGAAAGCCCATCTCTACTAAAAATACAAAAAACTAGCTGGGCATGCTGGCACACACCTGTAATCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATCTCTTGAACCTGGCAGGCAGAGGTTGCAGTGAGCCAAGATCGCACCACTGCACTCCAGCCTGGGCAACAGAGTGAAACTCCATCTCAAAAAAATAAAAATAAAAGACAAGGGCTGGGCGTGGTGGCTCACGCCTGTAATCACAGTACTTTGGAAGGCCAACGTGGGCAGATCACAAGGTCTAGAGATCGAGACCAGCCTGGCCAACATGGTAAAACCCCATCTCTACTAAAAATACAAAAATTAGCTGGGGTTGGTGGCGCGCACCTGTAATCCCAGCTACTCAGGAGGCTGAGGCAGGAGAACTGCTTGAACCCAGGAGGCGGAGGTTTCAGTGAGCCGAGATCATGCCACTGCACTCCAGCCTGGCGACAGAGCAAGACTCCGTCTCAAAACTAAAATAAATAAAATAAAAGACAAAAAATTTAAGGGCTTATCCATTTATTCCCTACTAATGACCATGTATCTTAGATTCCCTGGGCAAGCCAATAATATTTGGTGACCATACATATTCTTGTATGATGAGTATAATAATACAAGAGATCTGAACACATACCCCAATTTATTTGGGGGCTCAGAATATGTTGTCCCATTCCATAGTGGTATATCCTGGCCCTGAGAGGGGAGGAACCTAGTCTCAAGTTAGGCCTTCCTCAGGCTCGGGCCCTTACCGTGTCCAGTTGTATGAGGGAGGGGGCTGCCCTTCACTCAGGCACTTGAGCATAGCTCCTTCTCTGCCAATGTGCCACAGATTTTGGTCTTCAAGGCCCCTCACAGAGGCCTCAGCAAGGACTGGAATGGGAAGTGGGAGGAGAAAGAATGGGAATGATGCCTTTGATCATGTGGTACCTCAAAGGGCCCTGCCCCCACCCCACCCTGCCTGAAACACCCTCCCCTTGCCCTTCTCCATCCTACTCATCTGCTGCCAAACCTAGCTCAGCCCCACCCTGCTGACAGCTCCTGGCCACACTGTTCCCTCCCCTCTCTAAGCTCAGAGAGTCTGTATTGGTTTACCTGTACAATGAGACCATAAGTCCCTCAAGGTAGTGATCCATCACACATTTTCTGGATGTCCTGTGTTGCCTAGCATAGTGCTAGTCATAGAACAGGTGCTGAATAAATGTTGCCTGATTTTTCAAAGGTGTAACAATCCTACTAGTTCATTCATTTCTTCAACAAACATTTGTTGAGGACCTGCTTTGAGCCAAATGCTGACAGTCTTATCCCCTCCAGAGGCTTGAAATCTAGCACTGGGAAAACAATATCTACCATTTACCAAGCGCCTTCCATGCGCTAAGCACTGTGTGAGTTGCTCTGCATTCATAGTTTCTAATTCCCATCAAAACCCTCTAAAGTTGGTATGAGTTATATATAATTATACCCATTTTGCTGATGAAGAAAATGAAGCCTAACAAGAATGAATAACAGCTGGTAAGTAGAACTAGGGCTTGTCTAAGTTTATCTATTTCCAAATCCTAAACTAATATTTTAGAAAGTGCTTTCAATTCCATGTTTCTAATTGATTCTCCCAACAACCCTGTGAAACAAGGCAATCTCCTTTGTAAAGATAAGGACACAGAAGCTCAGAGAGGTCTATCCTCTGGGATCGGGCTCCAGGTCTTCCACATTTGGACTAGTGCTCTGTCACATACTATATATAGCCTCCAGGACCCAGGCTGGCCAGCCTGGCATGGCTCAGGGACCTGTGGCATCTCACCAATCTGCTGAGAACCCCTTGGGCCTCCCTACCCAAGCATCCAAGTACTTACAGGACACGTGGAGGATGTGGGTGATCCTTTGGTCCTGGAGCAGGCCAGGATGGGACACCACACAAGTCAGTGGCTGCCCATTCATGCTGCGGCTAGGCACCAAGTGGAACTCTGAGGTGACGGCAGCAGAGCGGGAGTGCTTGAAGGAACGGCTGGACGTTGTGCCTTTGACCTCCGTGTCCCAGGTCACGCTGGGGGCTGGGCTGCCCTCAGCTGTGCAGGAGGCTGCCAGGGTCAGGCCCTGGCCCTCTTCTAGTGCTGGACCAGGATTCAGTGAGGGCAGGGGAGGCACTGCAAATGGGGAAAGGCAGGGGTCACAGGTCTACACAATCCCTGTCAGGAGGCCCCCACTCATCGCATTTCAGTCTTGCACAAGTACAAACTTTCAGGCCCCCTTTCCTTCTCTTATTTCATGGAGACGCAGATGAATGGTAGAAATTCAGGTGACTTTGTATCCTTCTCTACTGTGCGAATTTTTTACAATGAACGTAGGTTATTTTAAAAAATAAAATAATGAAGTAATTAAAAAACTAACCAGATATCATCTACCTAATAATAATAACCACCATCTAGTAAGCATTTACTATGTGTCAACTATTATGCTAAATACCTTATAAATGTTATCTCAAATTCTGTCAACAAACAGTGAGTTAGGTATTATTATCTCTATTTTCCAGATGAGGAAACCAAAGCACAAGGAAGTTAAGTGACTATCCCAAGTCATCAGCTATTAGGTGACAAAGCCTAGATTTACACTTGGGTTTTTATTTTTACTCCAAGGCTGATGTTATTAACTTATATGTGAATAAAGGGAAACTATAAAAACCTTTATTTTATGTATTTATTTATTTATTTATTTATTTATCTACTTGTGAGACTGAGTCTCCGTCTGTTGCCCAGGCTGGAGTGCAGTGGCATGATCTCGGCTCACTGCAATCTCCGCCTCCTGGGTTCAAGCAATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGTGCGCACCACCACACCCAGCTGATTTTTGTATTTTTAGTAGAGATGGGGTTTCACCATGTTGGCCAGGCTGGTCTCGAACTCCTGACCTCAGGTGGTCTGCCCACCTCAGCCTCCCAAAGTGCTGGGATTACAGGGCATGAGCCACCTCACCCAGCCAAAAACCTTTATTTTTACCTTCAAAATATTAACACAGAATGGAAAAGACTTAACTTGACCGTAAGTCCAGAGTTCACCACAAGTGCCCACAATATAAAGTGATGGTTTAAAAAGTGATTGTGGCTGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCAAGACGAGCGGATCACGAGGTCAGGAGATCGAGACCATCCTGGCTAACACGGTGAAACCTTGTCTCTACTAAAAATACACAAAAATTAACTGGGCGTGGTGGTGGGCGCCTGTAGACCCAGCTACTCGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGATCGCGCCAATGCACTCCAGCCTGGGCGACAGAGCGAGACTCTGTCTCAAAAAATAAAAAAAGCGATTGTGATCTCAGACCACATTCACTGAAGGTCCATATCAAGGAAGGTATTAGCTCCTCTGATCGTGTATGGCCACACCATTGCTGGGCCTGTGTTCACATTCAGGACCCACATTGTAAAAAATACCATGGAGCACAGGATGGTGAGAGAGGCTTTGAAATTGTCTTTGGTGGAACTGTGTCAGGAACCAGTAAGTTTAGCTTGGAGAAGAGTAGATTTGGGTGGGGCACGACAAAGGGCCTCTGCTTTTGGAAAGGTTGTTGTGCAGAAAAGAGAATAAGCCAGTGCCATATTGCCACAGGGCAAAAGTAACAGAGGGAGTTTCATGTCGTCGGAAGGAAGAACTTCCTAATAAATGGATTCTTCCCCAGCTTTTGGGGTTACTTGGAGAGAATTTCTGGATTGGGTGCGAGGATAGCTAGCTGGATGAAGCTCCCTCACCTGAACATGACCCCACTTTTTATTCCTGTTCTACCTCTGCCCCATCCATCTCTGCAGTCCCCATCTCTGCTTCCCCCTGCATCCACAGCGGCTCAGACCGTACCCAGAGATCCCCGCTTACCCAGCA
GTGGCTCACGCCTATAATTCCAGCACTTTGGGAGGCCGAGGCTGGCGGATCACCCGAGGTCAGCAGTTCGAGACCAGCGTGGTCAACATGGTGAAAGCCCATCTCTACTAAAAATACAAAAAACTAGCTGGGCATGCTGGCACACACCTGTAATCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATCTCTTGAACCTGGCAGGCAGAGGTTGCAGTGAGCCAAGATCGCACCACTGCACTCCAGCCTGGGCAACAGAGTGAAACTCCATCTCAAAAAAATAAAAATAAAAGACAAGGGCTGGGCGTGGTGGCTCACGCCTGTAATCACAGTACTTTGGAAGGCCAACGTGGGCAGATCACAAGGTCTAGAGATCGAGACCAGCCTGGCCAACATGGTAAAACCCCATCTCTACTAAAAATACAAAAATTAGCTGGGGTTGGTGGCGCGCACCTGTAATCCCAGCTACTCAGGAGGCTGAGGCAGGAGAACTGCTTGAACCCAGGAGGCGGAGGTTTCAGTGAGCCGAGATCATGCCACTGCACTCCAGCCTGGCGACAGAGCAAGACTCCGTCTCAAAACTAAAATAAATAAAATAAAAGACAAAAAATTTAAGGGCTTATCCATTTATTCCCTACTAATGACCATGTATCTTAGATTCCCTGGGCAAGCCAATAATATTTGGTGACCATACATATTCTTGTATGATGAGTATAATAATACAAGAGATCTGAACACATACCCCAATTTATTTGGGGGCTCAGAATATGTTGTCCCATTCCATAGTGGTATATCCTGGCCCTGAGAGGGGAGGAACCTAGTCTCAAGTTAGGCCTTCCTCAGGCTCGGGCCCTTACCGTGTCCAGTTGTATGAGGGAGGGGGCTGCCCTTCACTCAGGCACTTGAGCATAGCTCCTTCTCTGCCAATGTGCCACAGATTTTGGTCTTCAAGGCCCCTCACAGAGGCCTCAGCAAGGACTGGAATGGGAAGTGGGAGGAGAAAGAATGGGAATGATGCCTTTGATCATGTGGTACCTCAAAGGGCCCTGCCCCCACCCCACCCTGCCTGAAACACCCTCCCCTTGCCCTTCTCCATCCTACTCATCTGCTGCCAAACCTAGCTCAGCCCCACCCTGCTGACAGCTCCTGGCCACACTGTTCCCTCCCCTCTCTAAGCTCAGAGAGTCTGTATTGGTTTACCTGTACAATGAGACCATAAGTCCCTCAAGGTAGTGATCCATCACACATTTTCTGGATGTCCTGTGTTGCCTAGCATAGTGCTAGTCATAGAACAGGTGCTGAATAAATGTTGCCTGATTTTTCAAAGGTGTAACAATCCTACTAGTTCATTCATTTCTTCAACAAACATTTGTTGAGGACCTGCTTTGAGCCAAATGCTGACAGTCTTATCCCCTCCAGAGGCTTGAAATCTAGCACTGGGAAAACAATATCTACCATTTACCAAGCGCCTTCCATGCGCTAAGCACTGTGTGAGTTGCTCTGCATTCATAGTTTCTAATTCCCATCAAAACCCTCTAAAGTTGGTATGAGTTATATATAATTATACCCATTTTGCTGATGAAGAAAATGAAGCCTAACAAGAATGAATAACAGCTGGTAAGTAGAACTAGGGCTTGTCTAAGTTTATCTATTTCCAAATCCTAAACTAATATTTTAGAAAGTGCTTTCAATTCCATGTTTCTAATTGATTCTCCCAACAACCCTGTGAAACAAGGCAATCTCCTTTGTAAAGATAAGGACACAGAAGCTCAGAGAGGTCTATCCTCTGGGATCGGGCTCCAGGTCTTCCACATTTGGACTAGTGCTCTGTCACATACTATATATAGCCTCCAGGACCCAGGCTGGCCAGCCTGGCATGGCTCAGGGACCTGTGGCATCTCACCAATCTGCTGAGAACCCCTTGGGCCTCCCTACCCAAGCATCCAAGTACTTACAGGACACGTGGAGGATGTGGGTGATCCTTTGGTCCTGGAGCAGGCCAGGATGGGACACCACACAAGTCAGTGGCTGCCCATTCATGCTGCGGCTACGCACCAAGTGGAACTCTGAGGTGACGGCAGCAGAGCGGGAGTGCTTGAAGGAACGGCTGGACGTTGTGCCTTTGACCTCCGTGTCCCAGGTCACGCTGGGGGCTGGGCTGCCCTCAGCTGTGCAGGAGGCTGCCAGGGTCAGGCCCTGGCCCTCTTCTAGTGCTGGACCAGGATTCAGTGAGGGCAGGGGAGGCACTGCAAATGGGGAAAGGCAGGGGTCACAGGTCTACACAATCCCTGTCAGGAGGCCCCCACTCATCGCATTTCAGTCTTGCACAAGTACAAACTTTCAGGCCCCCTTTCCTTCTCTTATTTCATGGAGACGCAGATGAATGGTAGAAATTCAGGTGACTTTGTATCCTTCTCTACTGTGCGAATTTTTTACAATGAACGTAGGTTATTTTAAAAAATAAAATAATGAAGTAATTAAAAAACTAACCAGATATCATCTACCTAATAATAATAACCACCATCTAGTAAGCATTTACTATGTGTCAACTATTATGCTAAATACCTTATAAATGTTATCTCAAATTCTGTCAACAAACAGTGAGTTAGGTATTATTATCTCTATTTTCCAGATGAGGAAACCAAAGCACAAGGAAGTTAAGTGACTATCCCAAGTCATCAGCTATTAGGTGACAAAGCCTAGATTTACACTTGGGTTTTTATTTTTACTCCAAGGCTGATGTTATTAACTTATATGTGAATAAAGGGAAACTATAAAAACCTTTATTTTATGTATTTATTTATTTATTTATTTATTTATCTACTTGTGAGACTGAGTCTCCGTCTGTTGCCCAGGCTGGAGTGCAGTGGCATGATCTCGGCTCACTGCAATCTCCGCCTCCTGGGTTCAAGCAATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGTGCGCACCACCACACCCAGCTGATTTTTGTATTTTTAGTAGAGATGGGGTTTCACCATGTTGGCCAGGCTGGTCTCGAACTCCTGACCTCAGGTGGTCTGCCCACCTCAGCCTCCCAAAGTGCTGGGATTACAGGGCATGAGCCACCTCACCCAGCCAAAAACCTTTATTTTTACCTTCAAAATATTAACACAGAATGGAAAAGACTTAACTTGACCGTAAGTCCAGAGTTCACCACAAGTGCCCACAATATAAAGTGATGGTTTAAAAAGTGATTGTGGCTGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCAAGACGAGCGGATCACGAGGTCAGGAGATCGAGACCATCCTGGCTAACACGGTGAAACCTTGTCTCTACTAAAAATACACAAAAATTAACTGGGCGTGGTGGTGGGCGCCTGTAGACCCAGCTACTCGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGATCGCGCCAATGCACTCCAGCCTGGGCGACAGAGCGAGACTCTGTCTCAAAAAATAAAAAAAGCGATTGTGATCTCAGACCACATTCACTGAAGGTCCATATCAAGGAAGGTATTAGCTCCTCTGATCGTGTATGGCCACACCATTGCTGGGCCTGTGTTCACATTCAGGACCCACATTGTAAAAAATACCATGGAGCACAGGATGGTGAGAGAGGCTTTGAAATTGTCTTTGGTGGAACTGTGTCAGGAACCAGTAAGTTTAGCTTGGAGAAGAGTAGATTTGGGTGGGGCACGACAAAGGGCCTCTGCTTTTGGAAAGGTTGTTGTGCAGAAAAGAGAATAAGCCAGTGCCATATTGCCACAGGGCAAAAGTAACAGAGGGAGTTTCATGTCGTCGGAAGGAAGAACTTCCTAATAAATGGATTCTTCCCCAGCTTTTGGGGTTACTTGGAGAGAATTTCTGGATTGGGTGCGAGGATAGCTAGCTGGATGAAGCTCCCTCACCTGAACATGACCCCACTTTTTATTCCTGTTCTACCTCTGCCCCATCCATCTCTGCAGTCCCCATCTCTGCTTCCCCCTGCATCCACAGCGGCTCAGACCGTACCCAGAGATCCCCGCTTACCCAGCA
Task1_train_1978
A variant found in Chromosome 1 affects NECTIN4 (nectin cell adhesion molecule 4). Please analyze its biological impact: is it benign or pathogenic, and what condition might it cause?
Pathogenic; Ectodermal dysplasia-syndactyly syndrome 1
GTCAACATGGTGAAAGCCCATCTCTACTAAAAATACAAAAAACTAGCTGGGCATGCTGGCACACACCTGTAATCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATCTCTTGAACCTGGCAGGCAGAGGTTGCAGTGAGCCAAGATCGCACCACTGCACTCCAGCCTGGGCAACAGAGTGAAACTCCATCTCAAAAAAATAAAAATAAAAGACAAGGGCTGGGCGTGGTGGCTCACGCCTGTAATCACAGTACTTTGGAAGGCCAACGTGGGCAGATCACAAGGTCTAGAGATCGAGACCAGCCTGGCCAACATGGTAAAACCCCATCTCTACTAAAAATACAAAAATTAGCTGGGGTTGGTGGCGCGCACCTGTAATCCCAGCTACTCAGGAGGCTGAGGCAGGAGAACTGCTTGAACCCAGGAGGCGGAGGTTTCAGTGAGCCGAGATCATGCCACTGCACTCCAGCCTGGCGACAGAGCAAGACTCCGTCTCAAAACTAAAATAAATAAAATAAAAGACAAAAAATTTAAGGGCTTATCCATTTATTCCCTACTAATGACCATGTATCTTAGATTCCCTGGGCAAGCCAATAATATTTGGTGACCATACATATTCTTGTATGATGAGTATAATAATACAAGAGATCTGAACACATACCCCAATTTATTTGGGGGCTCAGAATATGTTGTCCCATTCCATAGTGGTATATCCTGGCCCTGAGAGGGGAGGAACCTAGTCTCAAGTTAGGCCTTCCTCAGGCTCGGGCCCTTACCGTGTCCAGTTGTATGAGGGAGGGGGCTGCCCTTCACTCAGGCACTTGAGCATAGCTCCTTCTCTGCCAATGTGCCACAGATTTTGGTCTTCAAGGCCCCTCACAGAGGCCTCAGCAAGGACTGGAATGGGAAGTGGGAGGAGAAAGAATGGGAATGATGCCTTTGATCATGTGGTACCTCAAAGGGCCCTGCCCCCACCCCACCCTGCCTGAAACACCCTCCCCTTGCCCTTCTCCATCCTACTCATCTGCTGCCAAACCTAGCTCAGCCCCACCCTGCTGACAGCTCCTGGCCACACTGTTCCCTCCCCTCTCTAAGCTCAGAGAGTCTGTATTGGTTTACCTGTACAATGAGACCATAAGTCCCTCAAGGTAGTGATCCATCACACATTTTCTGGATGTCCTGTGTTGCCTAGCATAGTGCTAGTCATAGAACAGGTGCTGAATAAATGTTGCCTGATTTTTCAAAGGTGTAACAATCCTACTAGTTCATTCATTTCTTCAACAAACATTTGTTGAGGACCTGCTTTGAGCCAAATGCTGACAGTCTTATCCCCTCCAGAGGCTTGAAATCTAGCACTGGGAAAACAATATCTACCATTTACCAAGCGCCTTCCATGCGCTAAGCACTGTGTGAGTTGCTCTGCATTCATAGTTTCTAATTCCCATCAAAACCCTCTAAAGTTGGTATGAGTTATATATAATTATACCCATTTTGCTGATGAAGAAAATGAAGCCTAACAAGAATGAATAACAGCTGGTAAGTAGAACTAGGGCTTGTCTAAGTTTATCTATTTCCAAATCCTAAACTAATATTTTAGAAAGTGCTTTCAATTCCATGTTTCTAATTGATTCTCCCAACAACCCTGTGAAACAAGGCAATCTCCTTTGTAAAGATAAGGACACAGAAGCTCAGAGAGGTCTATCCTCTGGGATCGGGCTCCAGGTCTTCCACATTTGGACTAGTGCTCTGTCACATACTATATATAGCCTCCAGGACCCAGGCTGGCCAGCCTGGCATGGCTCAGGGACCTGTGGCATCTCACCAATCTGCTGAGAACCCCTTGGGCCTCCCTACCCAAGCATCCAAGTACTTACAGGACACGTGGAGGATGTGGGTGATCCTTTGGTCCTGGAGCAGGCCAGGATGGGACACCACACAAGTCAGTGGCTGCCCATTCATGCTGCGGCTAGGCACCAAGTGGAACTCTGAGGTGACGGCAGCAGAGCGGGAGTGCTTGAAGGAACGGCTGGACGTTGTGCCTTTGACCTCCGTGTCCCAGGTCACGCTGGGGGCTGGGCTGCCCTCAGCTGTGCAGGAGGCTGCCAGGGTCAGGCCCTGGCCCTCTTCTAGTGCTGGACCAGGATTCAGTGAGGGCAGGGGAGGCACTGCAAATGGGGAAAGGCAGGGGTCACAGGTCTACACAATCCCTGTCAGGAGGCCCCCACTCATCGCATTTCAGTCTTGCACAAGTACAAACTTTCAGGCCCCCTTTCCTTCTCTTATTTCATGGAGACGCAGATGAATGGTAGAAATTCAGGTGACTTTGTATCCTTCTCTACTGTGCGAATTTTTTACAATGAACGTAGGTTATTTTAAAAAATAAAATAATGAAGTAATTAAAAAACTAACCAGATATCATCTACCTAATAATAATAACCACCATCTAGTAAGCATTTACTATGTGTCAACTATTATGCTAAATACCTTATAAATGTTATCTCAAATTCTGTCAACAAACAGTGAGTTAGGTATTATTATCTCTATTTTCCAGATGAGGAAACCAAAGCACAAGGAAGTTAAGTGACTATCCCAAGTCATCAGCTATTAGGTGACAAAGCCTAGATTTACACTTGGGTTTTTATTTTTACTCCAAGGCTGATGTTATTAACTTATATGTGAATAAAGGGAAACTATAAAAACCTTTATTTTATGTATTTATTTATTTATTTATTTATTTATCTACTTGTGAGACTGAGTCTCCGTCTGTTGCCCAGGCTGGAGTGCAGTGGCATGATCTCGGCTCACTGCAATCTCCGCCTCCTGGGTTCAAGCAATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGTGCGCACCACCACACCCAGCTGATTTTTGTATTTTTAGTAGAGATGGGGTTTCACCATGTTGGCCAGGCTGGTCTCGAACTCCTGACCTCAGGTGGTCTGCCCACCTCAGCCTCCCAAAGTGCTGGGATTACAGGGCATGAGCCACCTCACCCAGCCAAAAACCTTTATTTTTACCTTCAAAATATTAACACAGAATGGAAAAGACTTAACTTGACCGTAAGTCCAGAGTTCACCACAAGTGCCCACAATATAAAGTGATGGTTTAAAAAGTGATTGTGGCTGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCAAGACGAGCGGATCACGAGGTCAGGAGATCGAGACCATCCTGGCTAACACGGTGAAACCTTGTCTCTACTAAAAATACACAAAAATTAACTGGGCGTGGTGGTGGGCGCCTGTAGACCCAGCTACTCGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGATCGCGCCAATGCACTCCAGCCTGGGCGACAGAGCGAGACTCTGTCTCAAAAAATAAAAAAAGCGATTGTGATCTCAGACCACATTCACTGAAGGTCCATATCAAGGAAGGTATTAGCTCCTCTGATCGTGTATGGCCACACCATTGCTGGGCCTGTGTTCACATTCAGGACCCACATTGTAAAAAATACCATGGAGCACAGGATGGTGAGAGAGGCTTTGAAATTGTCTTTGGTGGAACTGTGTCAGGAACCAGTAAGTTTAGCTTGGAGAAGAGTAGATTTGGGTGGGGCACGACAAAGGGCCTCTGCTTTTGGAAAGGTTGTTGTGCAGAAAAGAGAATAAGCCAGTGCCATATTGCCACAGGGCAAAAGTAACAGAGGGAGTTTCATGTCGTCGGAAGGAAGAACTTCCTAATAAATGGATTCTTCCCCAGCTTTTGGGGTTACTTGGAGAGAATTTCTGGATTGGGTGCGAGGATAGCTAGCTGGATGAAGCTCCCTCACCTGAACATGACCCCACTTTTTATTCCTGTTCTACCTCTGCCCCATCCATCTCTGCAGTCCCCATCTCTGCTTCCCCCTGCATCCACAGCGGCTCAGACCGTACCCAGAGATCCCCGCTTACCCAGCACTCGGAGCCGCAGCCGCGCCTGGAAGCTGCCGGCGGGGAAGGTGCTGACCCGGCACTCGTACTCGCCCTCATCCGCCTGCA
GTCAACATGGTGAAAGCCCATCTCTACTAAAAATACAAAAAACTAGCTGGGCATGCTGGCACACACCTGTAATCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATCTCTTGAACCTGGCAGGCAGAGGTTGCAGTGAGCCAAGATCGCACCACTGCACTCCAGCCTGGGCAACAGAGTGAAACTCCATCTCAAAAAAATAAAAATAAAAGACAAGGGCTGGGCGTGGTGGCTCACGCCTGTAATCACAGTACTTTGGAAGGCCAACGTGGGCAGATCACAAGGTCTAGAGATCGAGACCAGCCTGGCCAACATGGTAAAACCCCATCTCTACTAAAAATACAAAAATTAGCTGGGGTTGGTGGCGCGCACCTGTAATCCCAGCTACTCAGGAGGCTGAGGCAGGAGAACTGCTTGAACCCAGGAGGCGGAGGTTTCAGTGAGCCGAGATCATGCCACTGCACTCCAGCCTGGCGACAGAGCAAGACTCCGTCTCAAAACTAAAATAAATAAAATAAAAGACAAAAAATTTAAGGGCTTATCCATTTATTCCCTACTAATGACCATGTATCTTAGATTCCCTGGGCAAGCCAATAATATTTGGTGACCATACATATTCTTGTATGATGAGTATAATAATACAAGAGATCTGAACACATACCCCAATTTATTTGGGGGCTCAGAATATGTTGTCCCATTCCATAGTGGTATATCCTGGCCCTGAGAGGGGAGGAACCTAGTCTCAAGTTAGGCCTTCCTCAGGCTCGGGCCCTTACCGTGTCCAGTTGTATGAGGGAGGGGGCTGCCCTTCACTCAGGCACTTGAGCATAGCTCCTTCTCTGCCAATGTGCCACAGATTTTGGTCTTCAAGGCCCCTCACAGAGGCCTCAGCAAGGACTGGAATGGGAAGTGGGAGGAGAAAGAATGGGAATGATGCCTTTGATCATGTGGTACCTCAAAGGGCCCTGCCCCCACCCCACCCTGCCTGAAACACCCTCCCCTTGCCCTTCTCCATCCTACTCATCTGCTGCCAAACCTAGCTCAGCCCCACCCTGCTGACAGCTCCTGGCCACACTGTTCCCTCCCCTCTCTAAGCTCAGAGAGTCTGTATTGGTTTACCTGTACAATGAGACCATAAGTCCCTCAAGGTAGTGATCCATCACACATTTTCTGGATGTCCTGTGTTGCCTAGCATAGTGCTAGTCATAGAACAGGTGCTGAATAAATGTTGCCTGATTTTTCAAAGGTGTAACAATCCTACTAGTTCATTCATTTCTTCAACAAACATTTGTTGAGGACCTGCTTTGAGCCAAATGCTGACAGTCTTATCCCCTCCAGAGGCTTGAAATCTAGCACTGGGAAAACAATATCTACCATTTACCAAGCGCCTTCCATGCGCTAAGCACTGTGTGAGTTGCTCTGCATTCATAGTTTCTAATTCCCATCAAAACCCTCTAAAGTTGGTATGAGTTATATATAATTATACCCATTTTGCTGATGAAGAAAATGAAGCCTAACAAGAATGAATAACAGCTGGTAAGTAGAACTAGGGCTTGTCTAAGTTTATCTATTTCCAAATCCTAAACTAATATTTTAGAAAGTGCTTTCAATTCCATGTTTCTAATTGATTCTCCCAACAACCCTGTGAAACAAGGCAATCTCCTTTGTAAAGATAAGGACACAGAAGCTCAGAGAGGTCTATCCTCTGGGATCGGGCTCCAGGTCTTCCACATTTGGACTAGTGCTCTGTCACATACTATATATAGCCTCCAGGACCCAGGCTGGCCAGCCTGGCATGGCTCAGGGACCTGTGGCATCTCACCAATCTGCTGAGAACCCCTTGGGCCTCCCTACCCAAGCATCCAAGTACTTACAGGACACGTGGAGGATGTGGGTGATCCTTTGGTCCTGGAGCAGGCCAGGATGGGACACCACACAAGTCAGTGGCTGCCCATTCATGCTGCGGCTAGGCACCAAGTGGAACTCTGAGGTGACGGCAGCAGAGCGGGAGTGCTTGAAGGAACGGCTGGACGTTGTGCCTTTGACCTCCATGTCCCAGGTCACGCTGGGGGCTGGGCTGCCCTCAGCTGTGCAGGAGGCTGCCAGGGTCAGGCCCTGGCCCTCTTCTAGTGCTGGACCAGGATTCAGTGAGGGCAGGGGAGGCACTGCAAATGGGGAAAGGCAGGGGTCACAGGTCTACACAATCCCTGTCAGGAGGCCCCCACTCATCGCATTTCAGTCTTGCACAAGTACAAACTTTCAGGCCCCCTTTCCTTCTCTTATTTCATGGAGACGCAGATGAATGGTAGAAATTCAGGTGACTTTGTATCCTTCTCTACTGTGCGAATTTTTTACAATGAACGTAGGTTATTTTAAAAAATAAAATAATGAAGTAATTAAAAAACTAACCAGATATCATCTACCTAATAATAATAACCACCATCTAGTAAGCATTTACTATGTGTCAACTATTATGCTAAATACCTTATAAATGTTATCTCAAATTCTGTCAACAAACAGTGAGTTAGGTATTATTATCTCTATTTTCCAGATGAGGAAACCAAAGCACAAGGAAGTTAAGTGACTATCCCAAGTCATCAGCTATTAGGTGACAAAGCCTAGATTTACACTTGGGTTTTTATTTTTACTCCAAGGCTGATGTTATTAACTTATATGTGAATAAAGGGAAACTATAAAAACCTTTATTTTATGTATTTATTTATTTATTTATTTATTTATCTACTTGTGAGACTGAGTCTCCGTCTGTTGCCCAGGCTGGAGTGCAGTGGCATGATCTCGGCTCACTGCAATCTCCGCCTCCTGGGTTCAAGCAATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGTGCGCACCACCACACCCAGCTGATTTTTGTATTTTTAGTAGAGATGGGGTTTCACCATGTTGGCCAGGCTGGTCTCGAACTCCTGACCTCAGGTGGTCTGCCCACCTCAGCCTCCCAAAGTGCTGGGATTACAGGGCATGAGCCACCTCACCCAGCCAAAAACCTTTATTTTTACCTTCAAAATATTAACACAGAATGGAAAAGACTTAACTTGACCGTAAGTCCAGAGTTCACCACAAGTGCCCACAATATAAAGTGATGGTTTAAAAAGTGATTGTGGCTGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCAAGACGAGCGGATCACGAGGTCAGGAGATCGAGACCATCCTGGCTAACACGGTGAAACCTTGTCTCTACTAAAAATACACAAAAATTAACTGGGCGTGGTGGTGGGCGCCTGTAGACCCAGCTACTCGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGATCGCGCCAATGCACTCCAGCCTGGGCGACAGAGCGAGACTCTGTCTCAAAAAATAAAAAAAGCGATTGTGATCTCAGACCACATTCACTGAAGGTCCATATCAAGGAAGGTATTAGCTCCTCTGATCGTGTATGGCCACACCATTGCTGGGCCTGTGTTCACATTCAGGACCCACATTGTAAAAAATACCATGGAGCACAGGATGGTGAGAGAGGCTTTGAAATTGTCTTTGGTGGAACTGTGTCAGGAACCAGTAAGTTTAGCTTGGAGAAGAGTAGATTTGGGTGGGGCACGACAAAGGGCCTCTGCTTTTGGAAAGGTTGTTGTGCAGAAAAGAGAATAAGCCAGTGCCATATTGCCACAGGGCAAAAGTAACAGAGGGAGTTTCATGTCGTCGGAAGGAAGAACTTCCTAATAAATGGATTCTTCCCCAGCTTTTGGGGTTACTTGGAGAGAATTTCTGGATTGGGTGCGAGGATAGCTAGCTGGATGAAGCTCCCTCACCTGAACATGACCCCACTTTTTATTCCTGTTCTACCTCTGCCCCATCCATCTCTGCAGTCCCCATCTCTGCTTCCCCCTGCATCCACAGCGGCTCAGACCGTACCCAGAGATCCCCGCTTACCCAGCACTCGGAGCCGCAGCCGCGCCTGGAAGCTGCCGGCGGGGAAGGTGCTGACCCGGCACTCGTACTCGCCCTCATCCGCCTGCA
Task1_train_1979
Gene LOC126805894, UFC1 (MED14-independent group 3 enhancer GRCh37_chr1:161123368-161124567| ubiquitin-fold modifier conjugating enzyme 1) on Chromosome 1 is altered by this variant. Does this mutation result in a disease or is it benign?
Pathogenic; Neurodevelopmental disorder with spasticity and poor growth
TGTCTCAAAAACAAAACAAAACAAACAAACAAAAAAACTTACTGCCACAGGCTGGAATGATTCACTGAATAAACAGTGAAATAAACATAAATAAAATAAATAAATATATTTTTAAAAATTTTGGTCTTACTTTGACCCCCCAGGCTGGAGTGAAGTGGTATAATCTTGGCTCATTTGCAATCTCGACCTCCGGGGTTCAAGAGATCCTCCTGCTTCAGCCCCCAAAATAGTTGGGACTACAGGTGCCCGCCACCACTCCGGCTAATTTTTGTATTTTTTGTACAGCTGGGGTTTCACCACGTTGCCTAAGCTATTTTCGAACTCCTGGGCTCAAGCCATCTGCCCACCCCGGCCTCTGAAAGTGCTGGGGTTATCTGCGTGAATCACCGCACCCGGCCAAACAAGATATTTAAATCTATAATTAACGTTTTTAGGTTTTATTTATTTTTTGAGACGGAATCTTGTTCTTGTTGCCCAGGCTGGAGTGCAATGGCAGGATCTCGGCTCATTGTAACCTCCGCCTCCCGGGTTCAAGCGATTCTCCCGCCTCAGCCTCCAAGTAGCCGGGACTACAAGCGTGCGCCACCATGCCTAGCTAATTTTGTATTGTTAGTAGAGACGGGTTTCACCAGTCAGGCTGGTCTGGAGCTCCTGACCTCAAGTGATCCACCTGCCTTGGCCTCCCAAGTTGCTGGGATTACAGGCTTGAGCCACCACGCCAGCCAAACAGGATATTTAAATTAAAGCCAAAATGGCCGGCGCGGTGGCTCACGCCTGTAATCCCAGCACCTTGGGAGGCTGAGGCAGGTGGATCACCTGAGGTCAGGAGTTCAAGACCAACCTGGCCAACATGGCGAAACCCGGTCTCTACTAAAAATACAAAATCAGCCGGGCGTGGTAGCACATGCCTGTAATCCCAGCTACTCAGGACGCTGAGGCAGGAGAATCAATTGAACCCGGGAGGCGGAGGTTGCGGTGAGCCGAGATCATGCCATTGCACTCCAGCCTGGGCAACAAGAGTGAAACTCGGTCTCCAAAAAAAAAAAAAAAAAAAGCAAAAATTAATGTGTTTAGATTTTAAGTCCAACTGGAGTTTGTTTATTGTTTCCCCACAAGTAATCCCAGCACTTTGGGGAGGCTGGGGCAGGAGGATCGCTTGAGCCCGGGAGATGGAAGATGCAGTAAGCTATGATCGTACCACTGTACTCCAGCCTGGGCAACAGATTGAGACACTGTCTAAAAAAAAAAAAGTCTAGGACTCAGTGAATGGCTAGACTAAGGCAGAAATCTTGCAGGGATTTGTCTTTTGATTCTGCATGGTTTCTAATCTTTATCAGGAGTTAAACATCCTTCTACAGGATAACTGCATCTAGAGGCAGGACTATATATAAGCAAAGGAAAAGTTCTTCGAAGAGGAAACACGAATCGCTCGTTTTAGGAAGTCAGTGCCTTGAAAAGCGCCTTGGGGTTGGGGGCTCGGGGCTGGGGGAGGGATAGCATTAGGAGAAATACCTAATGTAAATGACGAGTTGATGGGTGCAGCAAACCAACATGGCACAAGTATACCTATGTATCAAACTTGCACGTTGTGCACATGTACTCTAGAACTTAAGGTATAATAAAAATAAATAAATAAGTAAAAATGCCTTCAGCAGCCTGAAGTTCTAAGAGCTTTCCAAGTTTGGGAAGGTGTCCGGGTTTTCTGCGATTACTTCTCTGAGCATGAACGGAAGTCACCCTTTGTGCCTTATGCGGTGATTTTAATGATAGGTGTCATATATAGGACGGAGTAATCTGTTTACATTCTGTTCTTCTCGATGCACTCACAAGCGGGTAACTAGGTGACAAGAAAACAAAGATCTTATTCAAAAGAGGTCTTACAGCAACCCAACGTCTCATCTTCCCATAGTAAAGATGACGGCGCCTTGAGGTAAGCTACAGGCAACACCACTTCCGCGTTTCTCTTGCGCCCTGGTCCAAGATGGCGGATGAAGCCACGCGACGTGTTGTGTCTGAGATCCCGGTGCTGAAGACTAACGCCGGACCCCGAGATCGTGAGTTGTGGGTGCAGCGACTGAAGGAGGAATATCAGTCCCTTATCCGGGTTAGTTGTGTTTCTACAGTCTAACGCGTAGCATAAGGGTTGGGAGAAATCAGGTGTCCTCAATAATAGGCTCCGTGTGGAAGCCGCTTCCGGTTTTTAAGTTTAACGCCCAAATTCATAGAAATGGGACTATTGTGGGGCTCGGGGACTAAGGAGGGATGGTGGGGAGAGGGCAAAAAAGACTCGGGTGAGGTGCACAGTGGGGCCAGACCTTGCGGCTAAAAGCAGCAGTTATTTTAGGGATACGCTTCCCCAGAAGGTGACGTGTCTCCCTGGCTACAGGTGTTTGTTCACCTGGATGTGAACAAAAATCCTCAGGGCGCCAACTCCCAGTCCGCATCTCTCTGCCCCCTTCTTCACTCTTCACTGTTTTGTTTGTTTGTTTGACGGAGTCTCGCTCTGTTGCTAGGCTGGAGTGCAGTGGCGCGATCTCGGCTCACTGCAACCTCCGACTCCCGGGTTCAAGCGAGTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGACTACAGGCGCGCGCCACCACACCCAGCTAATTTTTGTATTTTCAGTAGAGACGGGGTTTCACCGTGTTGGCCAGGATGGTCTCGATCCCCTGACCTCGTGATCCTGATCCACCCGCCTCGGCCTCCCAAAGTGCTGAGATTACAGGCGTGAGCCACCGCGCCTGGCCTCACTCTTCACTCTTTCAAGCCACATTAGGGCTGAAAATTCAAGTAGGTGTTAACTACAGAGAGTTGGGGAGTTTAGCTCATAGTTAGAAACGGGCTGTCTTCTCAGTTATCTCTACTGTGGAAGGTGAGAAAAGTTTGTCTTCCTTGTAGTTTCTGCCTGCTTCAAAGACCAGCAGTTCTAGTTCTCCTACCTCATGTATTCATTCACTAAAAAAAAAAAATTACTGTGCATATAGAACCTAGGGAGGAGATACCAAGCCGAATAAGGAGGAACTTACTGAGGTAGACAAAACCAGATCATTATAATACAGTGTTTAAGTGGAGAGAGACTGAGACAGATATGGACAGATATAAAGCGAGAAATGGCTAGGATGTTTTGAGAGCATAAGAGGAGACATCCAGTTTGCATTCGGTCACGGAAGGTTTCCTGGAAGAGGTAATGCTTGAGCTGAAACTTAAAGAGTAAACATAAGCTAGCCTGATAAAACATAAGAGTAGAAGGACATTCAAGCCAAAAGGGACAGCATGAGCAAAGGCATAGAATCTAGAAACGGCACAGGCACCAGCATGATGTGTTTGAAGAAACAAAGTAGCTCAGAGTTGTTAGAGCATCAAATGTGAGGCAGGGAATGGTAGACAAAGCTAGGAGACATATTTGAGCACTTGAATTTTCTCTTGGAGGCTTTGGGATACCGTTAAAAGTTATTAAGCTGAGGAATTACATGGCCGATTTGGGTTTAGATCAGTCACATTGGCAATAAGGGGAAAATACAATTGACAGGGACAAGACTGAAGGTAAGAGACAAGTTAGGCTGTCATTAATCTCAGCGAAACAAAAGGCAATCTAAACTAGGCAGTTGTGAGGATAGAGAGGAGAGGTAGATTTGTAGAATATTCAGAAGGTAAAATTAGCATAACATGGATTAGTGTAGTAAGGGATAGGGAGGGTCAAAGATGATTCCCAGGTTTTTGCCTTGGGTGAATGCTCATACTGCCACCTGAAATTGATAATTCAGGAGGATAATTCAGGAAGTGTATCCAAAGGAATATAAAAAATTCCAGATGGAAATGCTGAGTTTGAAGTACCTGTGAAATGAAGGTCAAAACGTCAACATACAGTTGGATACTAAAGGCTGAAGTTCTGAGGAAAGATCTGGACCAAAGATGAAAATCTGGGAGTCATTAGCCTGTGGGTGTTAGTTGAAACCAGGACTATATGAGGCTAGAAGGGAGTTACCCAGGGAAGGAGTCTATCATTAAATGAGTTGTGGGCTGAGGGCAGACACTATCAGAGAAGTGAGAGGAGAATCCAGATGGTATCTT
TGTCTCAAAAACAAAACAAAACAAACAAACAAAAAAACTTACTGCCACAGGCTGGAATGATTCACTGAATAAACAGTGAAATAAACATAAATAAAATAAATAAATATATTTTTAAAAATTTTGGTCTTACTTTGACCCCCCAGGCTGGAGTGAAGTGGTATAATCTTGGCTCATTTGCAATCTCGACCTCCGGGGTTCAAGAGATCCTCCTGCTTCAGCCCCCAAAATAGTTGGGACTACAGGTGCCCGCCACCACTCCGGCTAATTTTTGTATTTTTTGTACAGCTGGGGTTTCACCACGTTGCCTAAGCTATTTTCGAACTCCTGGGCTCAAGCCATCTGCCCACCCCGGCCTCTGAAAGTGCTGGGGTTATCTGCGTGAATCACCGCACCCGGCCAAACAAGATATTTAAATCTATAATTAACGTTTTTAGGTTTTATTTATTTTTTGAGACGGAATCTTGTTCTTGTTGCCCAGGCTGGAGTGCAATGGCAGGATCTCGGCTCATTGTAACCTCCGCCTCCCGGGTTCAAGCGATTCTCCCGCCTCAGCCTCCAAGTAGCCGGGACTACAAGCGTGCGCCACCATGCCTAGCTAATTTTGTATTGTTAGTAGAGACGGGTTTCACCAGTCAGGCTGGTCTGGAGCTCCTGACCTCAAGTGATCCACCTGCCTTGGCCTCCCAAGTTGCTGGGATTACAGGCTTGAGCCACCACGCCAGCCAAACAGGATATTTAAATTAAAGCCAAAATGGCCGGCGCGGTGGCTCACGCCTGTAATCCCAGCACCTTGGGAGGCTGAGGCAGGTGGATCACCTGAGGTCAGGAGTTCAAGACCAACCTGGCCAACATGGCGAAACCCGGTCTCTACTAAAAATACAAAATCAGCCGGGCGTGGTAGCACATGCCTGTAATCCCAGCTACTCAGGACGCTGAGGCAGGAGAATCAATTGAACCCGGGAGGCGGAGGTTGCGGTGAGCCGAGATCATGCCATTGCACTCCAGCCTGGGCAACAAGAGTGAAACTCGGTCTCCAAAAAAAAAAAAAAAAAAAGCAAAAATTAATGTGTTTAGATTTTAAGTCCAACTGGAGTTTGTTTATTGTTTCCCCACAAGTAATCCCAGCACTTTGGGGAGGCTGGGGCAGGAGGATCGCTTGAGCCCGGGAGATGGAAGATGCAGTAAGCTATGATCGTACCACTGTACTCCAGCCTGGGCAACAGATTGAGACACTGTCTAAAAAAAAAAAAGTCTAGGACTCAGTGAATGGCTAGACTAAGGCAGAAATCTTGCAGGGATTTGTCTTTTGATTCTGCATGGTTTCTAATCTTTATCAGGAGTTAAACATCCTTCTACAGGATAACTGCATCTAGAGGCAGGACTATATATAAGCAAAGGAAAAGTTCTTCGAAGAGGAAACACGAATCGCTCGTTTTAGGAAGTCAGTGCCTTGAAAAGCGCCTTGGGGTTGGGGGCTCGGGGCTGGGGGAGGGATAGCATTAGGAGAAATACCTAATGTAAATGACGAGTTGATGGGTGCAGCAAACCAACATGGCACAAGTATACCTATGTATCAAACTTGCACGTTGTGCACATGTACTCTAGAACTTAAGGTATAATAAAAATAAATAAATAAGTAAAAATGCCTTCAGCAGCCTGAAGTTCTAAGAGCTTTCCAAGTTTGGGAAGGTGTCCGGGTTTTCTGCGATTACTTCTCTGAGCATGAACGGAAGTCACCCTTTGTGCCTTATGCGGTGATTTTAATGATAGGTGTCATATATAGGACGGAGTAATCTGTTTACATTCTGTTCTTCTCGATGCACTCACAAGCGGGTAACTAGGTGACAAGAAAACAAAGATCTTATTCAAAAGAGGTCTTACAGCAACCCAACGTCTCATCTTCCCATAGTAAAGATGACGGCGCCTTGAGGTAAGCTACAGGCAACACCACTTCCGCGTTTCTCTTGCGCCCTGGTCCAAGATGGCGGATGAAGCCACGCGACGTGTTGTGTCTGAGATCCCGGTGCTGAAGACTAACGCCGGACCCCAAGATCGTGAGTTGTGGGTGCAGCGACTGAAGGAGGAATATCAGTCCCTTATCCGGGTTAGTTGTGTTTCTACAGTCTAACGCGTAGCATAAGGGTTGGGAGAAATCAGGTGTCCTCAATAATAGGCTCCGTGTGGAAGCCGCTTCCGGTTTTTAAGTTTAACGCCCAAATTCATAGAAATGGGACTATTGTGGGGCTCGGGGACTAAGGAGGGATGGTGGGGAGAGGGCAAAAAAGACTCGGGTGAGGTGCACAGTGGGGCCAGACCTTGCGGCTAAAAGCAGCAGTTATTTTAGGGATACGCTTCCCCAGAAGGTGACGTGTCTCCCTGGCTACAGGTGTTTGTTCACCTGGATGTGAACAAAAATCCTCAGGGCGCCAACTCCCAGTCCGCATCTCTCTGCCCCCTTCTTCACTCTTCACTGTTTTGTTTGTTTGTTTGACGGAGTCTCGCTCTGTTGCTAGGCTGGAGTGCAGTGGCGCGATCTCGGCTCACTGCAACCTCCGACTCCCGGGTTCAAGCGAGTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGACTACAGGCGCGCGCCACCACACCCAGCTAATTTTTGTATTTTCAGTAGAGACGGGGTTTCACCGTGTTGGCCAGGATGGTCTCGATCCCCTGACCTCGTGATCCTGATCCACCCGCCTCGGCCTCCCAAAGTGCTGAGATTACAGGCGTGAGCCACCGCGCCTGGCCTCACTCTTCACTCTTTCAAGCCACATTAGGGCTGAAAATTCAAGTAGGTGTTAACTACAGAGAGTTGGGGAGTTTAGCTCATAGTTAGAAACGGGCTGTCTTCTCAGTTATCTCTACTGTGGAAGGTGAGAAAAGTTTGTCTTCCTTGTAGTTTCTGCCTGCTTCAAAGACCAGCAGTTCTAGTTCTCCTACCTCATGTATTCATTCACTAAAAAAAAAAAATTACTGTGCATATAGAACCTAGGGAGGAGATACCAAGCCGAATAAGGAGGAACTTACTGAGGTAGACAAAACCAGATCATTATAATACAGTGTTTAAGTGGAGAGAGACTGAGACAGATATGGACAGATATAAAGCGAGAAATGGCTAGGATGTTTTGAGAGCATAAGAGGAGACATCCAGTTTGCATTCGGTCACGGAAGGTTTCCTGGAAGAGGTAATGCTTGAGCTGAAACTTAAAGAGTAAACATAAGCTAGCCTGATAAAACATAAGAGTAGAAGGACATTCAAGCCAAAAGGGACAGCATGAGCAAAGGCATAGAATCTAGAAACGGCACAGGCACCAGCATGATGTGTTTGAAGAAACAAAGTAGCTCAGAGTTGTTAGAGCATCAAATGTGAGGCAGGGAATGGTAGACAAAGCTAGGAGACATATTTGAGCACTTGAATTTTCTCTTGGAGGCTTTGGGATACCGTTAAAAGTTATTAAGCTGAGGAATTACATGGCCGATTTGGGTTTAGATCAGTCACATTGGCAATAAGGGGAAAATACAATTGACAGGGACAAGACTGAAGGTAAGAGACAAGTTAGGCTGTCATTAATCTCAGCGAAACAAAAGGCAATCTAAACTAGGCAGTTGTGAGGATAGAGAGGAGAGGTAGATTTGTAGAATATTCAGAAGGTAAAATTAGCATAACATGGATTAGTGTAGTAAGGGATAGGGAGGGTCAAAGATGATTCCCAGGTTTTTGCCTTGGGTGAATGCTCATACTGCCACCTGAAATTGATAATTCAGGAGGATAATTCAGGAAGTGTATCCAAAGGAATATAAAAAATTCCAGATGGAAATGCTGAGTTTGAAGTACCTGTGAAATGAAGGTCAAAACGTCAACATACAGTTGGATACTAAAGGCTGAAGTTCTGAGGAAAGATCTGGACCAAAGATGAAAATCTGGGAGTCATTAGCCTGTGGGTGTTAGTTGAAACCAGGACTATATGAGGCTAGAAGGGAGTTACCCAGGGAAGGAGTCTATCATTAAATGAGTTGTGGGCTGAGGGCAGACACTATCAGAGAAGTGAGAGGAGAATCCAGATGGTATCTT
Task1_train_1980
This alteration occurs within gene UFC1 (ubiquitin-fold modifier conjugating enzyme 1) located on Chromosome 1. Is it associated with a disease or is it a benign variant?
Pathogenic; Neurodevelopmental disorder with spasticity and poor growth
CAATCTAAACTAGGCAGTTGTGAGGATAGAGAGGAGAGGTAGATTTGTAGAATATTCAGAAGGTAAAATTAGCATAACATGGATTAGTGTAGTAAGGGATAGGGAGGGTCAAAGATGATTCCCAGGTTTTTGCCTTGGGTGAATGCTCATACTGCCACCTGAAATTGATAATTCAGGAGGATAATTCAGGAAGTGTATCCAAAGGAATATAAAAAATTCCAGATGGAAATGCTGAGTTTGAAGTACCTGTGAAATGAAGGTCAAAACGTCAACATACAGTTGGATACTAAAGGCTGAAGTTCTGAGGAAAGATCTGGACCAAAGATGAAAATCTGGGAGTCATTAGCCTGTGGGTGTTAGTTGAAACCAGGACTATATGAGGCTAGAAGGGAGTTACCCAGGGAAGGAGTCTATCATTAAATGAGTTGTGGGCTGAGGGCAGACACTATCAGAGAAGTGAGAGGAGAATCCAGATGGTATCTTCAGGTCTTTTGTGCTTGCTAAATTGAGTGGAGCCCATTCTATTCTCTGTTCTGGGCAGACCCCCACTTACCAGTATAGCCTTGTCTTCAGCTTTGCTAATGTTAGAAAAATTAGGTAAACATATTAAGAAAAAGTAGGCTGGGCGTGGTGGCTCACGCCTCTAATCCCAGCACTTTGGGAGGCCAAGGTGGGCGGATCACGAGGTCAGGAGATCGAGACCATCCTGGCTAATATGGTGAAACCCCATCTCTACTAAAAAAAAAAAAAATACAAAAAATTAGCCGGGCATGGTGGCGGGCACCTGTAGTTCCAGCTACTTGAGAGGCTGAGGCAGGAGAATGGCGTGAACCCAGGCAATGGAGCTTGCAGTGAGCCGAGATTGCGCCACTGCACTCCAGTCTGGGTGACAGAGCGAGACTGTCTCAAAAAAAAAAAAAAAAAAAAACCGGCTGGGTGTAGTGGCTCACGCCTGTAATCCTAGCACTTTGGGAGGCCAAGGCAGGTTGATCACCTGGGGTCAGGAGTTCGAGACCAGCCTGGCCAACATGGCAAAACCCCGTCTCTACTAAAAATACAAAAATTATCCGGGCATGGTGGTGCACGCCTGTAATCCCAGCTACTCAGGAGACTGAGGAAGGAGAATCGCTTGAACCTGGGAGGTGGAAGTTGCAGTGAACCCAGATTGCGCCACTGCACTCCAGCCTGTGCGACGGGAGCGAGATTCCATCTCAATAAAAATAAAAAATAAAAAAAATAACCACATACTTTTCTTTTGAGGAGAGGGGGACTGCCCTTGGCCCCAACTACTCTCTCAAAGACCTCATTCTCTGCTTTCAGTATGTGGAGAACAACAAGAATGCTGACAACGATTGGTTCCGACTGGAGTCCAACAAGGAAGGAACTCGGTAGGTAGACCCTCTTGGGAGGTGTGGGGTGGGAGTCTTATATGAGTTAGGCAATTTGGTATCCTAGCGCCCACTACCAAAGCTGCCCTGTCACATGTTAGCTGTCTCCACTCCCACAGCGCCAGAGTTCCCCAGTTCCCATCCTATGAGTCTCCCAGGCTGGTGGCCTAAGCCAAGATATCATTTGAGTACTGGAAGAATAGGCAAATTGGACTGAGGTTTGGTCTTTGTTACAGGTGGTTTGGAAAATGCTGGTATATCCATGACCTCCTGAAATATGAGTTTGACATCGAGTTTGACGTGAGTGTGATAGAGTGGGAAATATGAAGGTTAGTAGAAGGGGAGGGATTAGATGATGGGTAACAAGCTATCCTTTCTTGAAGGGACCAAAGAAAACTTTAAAAATGGGAGAGAAAAGCTGAGGTTTGAGGCAAGCATAAGTTATATTTACTCATCTCCACATCCAGAATCCTGGTATGGATGTGCTCCTTGGGGAGTTTTACTTAACATTTCAGTTTAACCAAGAAATATGTATGTCTGATTATATTAGTTCCTTTCTATCCTGATTCTGTTTTATTAAGGTTTTATAATTTCTCCAGATTCCTATCACATATCCTACTACTGCCCCAGAAATTGCAGTTCCTGAGCTGGATGGAAAGACAGCAAAGATGTACAGGTAGGACTGAATAGGAGATGGCAAAGAGTCAAAGAAAGCCTTAAGGAAGAACTTCGTGGCGGGAGGGAGAGCATCAGGAAGAATAGCTAATGGATGCTTGGCTTGATGTCTGGGTGATGGGATGATCTATGTGTAAATCACCATGGCACGTTTACCTATGTAACAAACCTATACATCCTGCATGTGTACCTCTGAACTTAAAAGATGTAAGGAAAAAAAAAAAAAGGAAGAACTTTGGAGGCAGAGATTTTCCCAGGGTCTGCTGGCCTAGTGGGGTGCCAGGCCCTCCTTTGCTGAGCCTAAGCAAAGTACTTAGCTGAACTTGTTCTCAATTCTGATCACTAGTAGTCTTCCTATGCCCCCAAGAGGCTGCTGTGCTTTATGGTAAACTTTGCATGTCAACACCTTCTTCATGTCCCTCTCATAGGGGTGGCAAAATATGCCTGACGGATCATTTCAAACCTTTGTGGGCCAGGAATGTGCCCAAATTTGGACTAGCTCATCTCATGGCTCTGGGGGTAAGTTTTGTGTATTTGGCATAAAAGGAGAAAGAGGGACTTAGGCCCTGAGCAGTACAAGAAAAGCAGCTAAGAATAAAAGGAATAACAGTGATGTCCCTTAAGCATGTTCCCCCAGAATCTGTCTCCAGGAAGGAGCTTCTAATGGAACAAGAAGCATTGACTGGTAGTAATCTCACAGGATTTTCCTTGTATTGCAGCTGGGTCCATGGCTGGCAGTGGAAATCCCTGATCTGATTCAGAAGGGCGTCATCCAACACAAAGAGAAATGCAACCAATGAAGAATCAAGCCACTGAGGCAGGGCAGAGGGACCTTTGATAGGCTACGATACTATTTTCCTGTGCATCACACTTAACTCATCTAACTGCTTCCCCGGACACCCTCCACCTCTAGTTGTTACTAAGTAGCTGCAGTAGGCATTGCTGGGGAAGAAACAAACACACACCAAACAGTACTGCTACTTAGTTTCTAAGGCTGCACAGGGAAGGGAAAGACTGGGCTTTGGACAATCTAGAGGTAATTTATATCCGCCCCCAGGTGGAGCAACATGCGATTCTGGAGGCACGGGGGTAACTGAAAGTGAGTACATATAGTCTTTCTGGTTTCTGGAGATAACCCATCAATAAAAGCTGCTTCCTCTGGTAGCCTGTGGTTCTCATTGGGAGCTGTTAACAGAGGGCAAGTGGGCTGAAACCTGAGGCACATGAACAGCTACGCCGGGTTGGGTTGGGAAAGAGTCGGAAATAGGGGATGCTCTGGTCAGGAGTGGGAATGAAATGTTGACTGTTCCCCCTGCTGCTCAGATCTACCTTTGTCCTTTAGTGGTGAGCCATGCTTTGCCCTACCGTGTTAGCCTGCAAGAAGTGGTTTTGCCGGACCAGCACTTCCCGCCCTCCAGGGATCTTCCCAGCCCTCTGTGAAGTGCTAGATGCTTCTCCACTGGTCTGCGGGCTGGACCCAGGCCTGCAGTTTGCCATACTTGCGCCCCTGCTGTTTGGGAAGGATCTGTGCTGTAAGCCTCGCGGCCATACTACGACTGTCAGATCTCCATCCCTATGGGCTATAGGATGGGGCGACGGCACCCTATACCTCAGGGACTTGCTTTGGAGTCATGGATTAAAGACCTCTCTGGGCAGCGTTGAGAACCAGCGACCCTAAACTTGGCTGCGTTTCCATGGTGTCGATCGCGGAGCCGTGGGGGCGGGCTCACGCAAGCGCCAAGGGACCGGTGGGAGGAGTTCGGGTGTGGATGCGCAGGCGCTTTGAGAGACGGTGAAGCCGGTGGCCGGTGGCCGGGCGGGACCAACAAAGATGGCGGCGGCCCCTGCGGCGGGAGCGATCTGGGCAACGGCTGCGGCTAAAGCTGCAGCCGGGCCCACGGGGGGGCTGCACGGGGGTAGTAGGGGGTGGCCCTGAACTGGGGCCTGGCCCTGGCTGGCCTCTCCCGCCGCCTCACTGGGGGACAGGTACGGGCCGGGGCGTTATGGCATGGCGGGGTGTGGGGGGGCGCAGA
CAATCTAAACTAGGCAGTTGTGAGGATAGAGAGGAGAGGTAGATTTGTAGAATATTCAGAAGGTAAAATTAGCATAACATGGATTAGTGTAGTAAGGGATAGGGAGGGTCAAAGATGATTCCCAGGTTTTTGCCTTGGGTGAATGCTCATACTGCCACCTGAAATTGATAATTCAGGAGGATAATTCAGGAAGTGTATCCAAAGGAATATAAAAAATTCCAGATGGAAATGCTGAGTTTGAAGTACCTGTGAAATGAAGGTCAAAACGTCAACATACAGTTGGATACTAAAGGCTGAAGTTCTGAGGAAAGATCTGGACCAAAGATGAAAATCTGGGAGTCATTAGCCTGTGGGTGTTAGTTGAAACCAGGACTATATGAGGCTAGAAGGGAGTTACCCAGGGAAGGAGTCTATCATTAAATGAGTTGTGGGCTGAGGGCAGACACTATCAGAGAAGTGAGAGGAGAATCCAGATGGTATCTTCAGGTCTTTTGTGCTTGCTAAATTGAGTGGAGCCCATTCTATTCTCTGTTCTGGGCAGACCCCCACTTACCAGTATAGCCTTGTCTTCAGCTTTGCTAATGTTAGAAAAATTAGGTAAACATATTAAGAAAAAGTAGGCTGGGCGTGGTGGCTCACGCCTCTAATCCCAGCACTTTGGGAGGCCAAGGTGGGCGGATCACGAGGTCAGGAGATCGAGACCATCCTGGCTAATATGGTGAAACCCCATCTCTACTAAAAAAAAAAAAAATACAAAAAATTAGCCGGGCATGGTGGCGGGCACCTGTAGTTCCAGCTACTTGAGAGGCTGAGGCAGGAGAATGGCGTGAACCCAGGCAATGGAGCTTGCAGTGAGCCGAGATTGCGCCACTGCACTCCAGTCTGGGTGACAGAGCGAGACTGTCTCAAAAAAAAAAAAAAAAAAAAACCGGCTGGGTGTAGTGGCTCACGCCTGTAATCCTAGCACTTTGGGAGGCCAAGGCAGGTTGATCACCTGGGGTCAGGAGTTCGAGACCAGCCTGGCCAACATGGCAAAACCCCGTCTCTACTAAAAATACAAAAATTATCCGGGCATGGTGGTGCACGCCTGTAATCCCAGCTACTCAGGAGACTGAGGAAGGAGAATCGCTTGAACCTGGGAGGTGGAAGTTGCAGTGAACCCAGATTGCGCCACTGCACTCCAGCCTGTGCGACGGGAGCGAGATTCCATCTCAATAAAAATAAAAAATAAAAAAAATAACCACATACTTTTCTTTTGAGGAGAGGGGGACTGCCCTTGGCCCCAACTACTCTCTCAAAGACCTCATTCTCTGCTTTCAGTATGTGGAGAACAACAAGAATGCTGACAACGATTGGTTCCGACTGGAGTCCAACAAGGAAGGAACTCGGTAGGTAGACCCTCTTGGGAGGTGTGGGGTGGGAGTCTTATATGAGTTAGGCAATTTGGTATCCTAGCGCCCACTACCAAAGCTGCCCTGTCACATGTTAGCTGTCTCCACTCCCACAGCGCCAGAGTTCCCCAGTTCCCATCCTATGAGTCTCCCAGGCTGGTGGCCTAAGCCAAGATATCATTTGAGTACTGGAAGAATAGGCAAATTGGACTGAGGTTTGGTCTTTGTTACAGGTGGTTTGGAAAATGCTGGTATATCCATGACCTCCTGAAATATGAGTTTGACATCGAGTTTGACGTGAGTGTGATAGAGTGGGAAATATGAAGGTTAGTAGAAGGGGAGGGATTAGATGATGGGTAACAAGCTATCCTTTCTTGAAGGGACCAAAGAAAACTTTAAAAATGGGAGAGAAAAGCTGAGGTTTGAGGCAAGCATAAGTTATATTTACTCATCTCCACATCCAGAATCCTGGTATGGATGTGCTCCTTGGGGAGTTTTACTTAACATTTCAGTTTAACCAAGAAATATGTATGTCTGATTATATTAGTTCCTTTCTATCCTGATTCTGTTTTATTAAGGTTTTATAATTTCTCCAGATTCCTATCACATATCCTACTACTGCCCCAGAAATTGCAGTTCCTGAGCTGGATGGAAAGATAGCAAAGATGTACAGGTAGGACTGAATAGGAGATGGCAAAGAGTCAAAGAAAGCCTTAAGGAAGAACTTCGTGGCGGGAGGGAGAGCATCAGGAAGAATAGCTAATGGATGCTTGGCTTGATGTCTGGGTGATGGGATGATCTATGTGTAAATCACCATGGCACGTTTACCTATGTAACAAACCTATACATCCTGCATGTGTACCTCTGAACTTAAAAGATGTAAGGAAAAAAAAAAAAAGGAAGAACTTTGGAGGCAGAGATTTTCCCAGGGTCTGCTGGCCTAGTGGGGTGCCAGGCCCTCCTTTGCTGAGCCTAAGCAAAGTACTTAGCTGAACTTGTTCTCAATTCTGATCACTAGTAGTCTTCCTATGCCCCCAAGAGGCTGCTGTGCTTTATGGTAAACTTTGCATGTCAACACCTTCTTCATGTCCCTCTCATAGGGGTGGCAAAATATGCCTGACGGATCATTTCAAACCTTTGTGGGCCAGGAATGTGCCCAAATTTGGACTAGCTCATCTCATGGCTCTGGGGGTAAGTTTTGTGTATTTGGCATAAAAGGAGAAAGAGGGACTTAGGCCCTGAGCAGTACAAGAAAAGCAGCTAAGAATAAAAGGAATAACAGTGATGTCCCTTAAGCATGTTCCCCCAGAATCTGTCTCCAGGAAGGAGCTTCTAATGGAACAAGAAGCATTGACTGGTAGTAATCTCACAGGATTTTCCTTGTATTGCAGCTGGGTCCATGGCTGGCAGTGGAAATCCCTGATCTGATTCAGAAGGGCGTCATCCAACACAAAGAGAAATGCAACCAATGAAGAATCAAGCCACTGAGGCAGGGCAGAGGGACCTTTGATAGGCTACGATACTATTTTCCTGTGCATCACACTTAACTCATCTAACTGCTTCCCCGGACACCCTCCACCTCTAGTTGTTACTAAGTAGCTGCAGTAGGCATTGCTGGGGAAGAAACAAACACACACCAAACAGTACTGCTACTTAGTTTCTAAGGCTGCACAGGGAAGGGAAAGACTGGGCTTTGGACAATCTAGAGGTAATTTATATCCGCCCCCAGGTGGAGCAACATGCGATTCTGGAGGCACGGGGGTAACTGAAAGTGAGTACATATAGTCTTTCTGGTTTCTGGAGATAACCCATCAATAAAAGCTGCTTCCTCTGGTAGCCTGTGGTTCTCATTGGGAGCTGTTAACAGAGGGCAAGTGGGCTGAAACCTGAGGCACATGAACAGCTACGCCGGGTTGGGTTGGGAAAGAGTCGGAAATAGGGGATGCTCTGGTCAGGAGTGGGAATGAAATGTTGACTGTTCCCCCTGCTGCTCAGATCTACCTTTGTCCTTTAGTGGTGAGCCATGCTTTGCCCTACCGTGTTAGCCTGCAAGAAGTGGTTTTGCCGGACCAGCACTTCCCGCCCTCCAGGGATCTTCCCAGCCCTCTGTGAAGTGCTAGATGCTTCTCCACTGGTCTGCGGGCTGGACCCAGGCCTGCAGTTTGCCATACTTGCGCCCCTGCTGTTTGGGAAGGATCTGTGCTGTAAGCCTCGCGGCCATACTACGACTGTCAGATCTCCATCCCTATGGGCTATAGGATGGGGCGACGGCACCCTATACCTCAGGGACTTGCTTTGGAGTCATGGATTAAAGACCTCTCTGGGCAGCGTTGAGAACCAGCGACCCTAAACTTGGCTGCGTTTCCATGGTGTCGATCGCGGAGCCGTGGGGGCGGGCTCACGCAAGCGCCAAGGGACCGGTGGGAGGAGTTCGGGTGTGGATGCGCAGGCGCTTTGAGAGACGGTGAAGCCGGTGGCCGGTGGCCGGGCGGGACCAACAAAGATGGCGGCGGCCCCTGCGGCGGGAGCGATCTGGGCAACGGCTGCGGCTAAAGCTGCAGCCGGGCCCACGGGGGGGCTGCACGGGGGTAGTAGGGGGTGGCCCTGAACTGGGGCCTGGCCCTGGCTGGCCTCTCCCGCCGCCTCACTGGGGGACAGGTACGGGCCGGGGCGTTATGGCATGGCGGGGTGTGGGGGGGCGCAGA
Task1_train_1981
This variant affects gene PPOX (protoporphyrinogen oxidase) located on Chromosome 1. Evaluate its biological effect and specify any disease association.
Pathogenic; not provided
ACTGCCTCCCAAATGCTCCTTAACCAGGGCTTAGATCTGAATCGATTTTCTGCCTCCCGAGGCTCCATCAAAAAAAGTTCAGTAGGTGTAGACTTTCCACTGCAGCGACTGAGCCTAGGGGACTTTGCCAGTGACAAAGCCGGTGAGTCTGGTGGGGAAAGTCCTAAGGAGCCAAAGGAGTGGGGGCACAGCTCTGATTATAGAACTTGATCATCTCCAACCCCGCAGGAAGTCCTGTATACCAGCTGTATGCCCTTTGCAACCACTCAGGCAGCGTCCACTATGGCCACTACACAGCCCTGTGCCGGTGCCAGACTGGTTGGCATGTCTACAATGACTCTCGGTGAGAATAGCCTCCTATTTACATCCTGCCCCATTCCCACTCAGCCCTGACACCCTCCCCTTCTATGAAGCTCCAGGAGAGCAGAGTGCCAGGTGAAAGGAGAGGTGGAGGTCTTGCCTGATCATTTCCTGGATGCTCTGAGGTTCGGTCTTGTAGGGAGAAGGGAGTAAACAGGAATGACCACAACCCTTTCCCGATCTCCTTTTTTCCTAGTGTCTCCCCTGTCAGTGAAAACCAGGTGGCATCCAGCGAGGGCTACGTGCTGTTCTACCAACTGATGCAGGAGCCACCCCGGTGCCTGTGACACCTCTAAGCTCTGGCACCTGTGAAGCCCTTTAAACACCCTTAAGCCCCAGGCTCCCCGTTTACCTCAGAGACGTCTATTTTTGTGTCTTTTTAATCGGGGAGGGGGGAGGGGGTGGTTGTAGCTCCATTATTTTTTTTATTAAAAAATACCCTTCCACCTGGAGGCTCCCTTGTCTCCCAGCCCCATGTACAAAGCTCACCAAGCCCCTGCCCATGTACAGCCCCCAGACCCTCTGCAATATCACTTTTTGTGAATAAATTTATTAAGAAAAAATGATGTGCTTATTTGTATTTTTGCTTAGGGGGTGATAGAGAACTGAGCCAAATTGGAGTCTTCTTGGGACCCAAGTTCCCTCTCTAACAGGTGGGGGCGCTCTCAGAGCCGAGGGGGAAGGTTTCGGGGATGGTGCTGGACCCGGACCTGTGTCCCCCAGCAGTGAAGGTTATGTACTGGGAGGAAAAGAGGAAAGGCATACTTGAGTGAGGCTGCGTGCAGGCTCTGGGGCGACTGGTTTGGTCGGCGATGGGGGAGTGCCACTGTTGACAAACACTGGGTACGTTGCCGGGCGGCCCTAGCTCCCGTAGGCCCGGTCTGTTGCTAACATCAAGGAGCTGTTTATGGAGCCGCCTCCCCGTGGACTGGCCTTAAGTGTCCCTATCTATTCTCCCTACGACCAAAGCTCCTGCGGCCTTCCCTCTAGGGTTGTCACCCTAGCTGGACCTGGTAAGCTTGTGCTGGGGAACGCTAACTCCAGCATTAAGCGCTCGCCGCCTCGGTCCTGAGGAGGGCAGTGACGGGTACGGCCGCTCACTCCCAGCTCGGCGCTAACACGGTTAACCTCCAGCTCTTACAGCTGCCGTCGCTCCGCCTCTGCCAGTTCAATGTTTTATTGGTGAACGTGATCCGGGGCCTTCCAAGTCCCGCCAATCCAGATGTAGGAGAGGTAGGGTTAGGCGCGTGCCGCGAGAACAGAGTGGACGGAGCGTAGGAGAGACCGAAAAGGCTGGGGGTGGGAGTAGCGGATTTGAAGCACTTGTTGGCCTACAGAGGTGTGGCAAGCAGAGCACCTCAGAACTCAGGCGTACTGCCCGCCGCCCGAGCCCTGCGAGGGCCGATAGCGAGGGTGTGGCCCTTATCTGCACCCAGCAGAGCGCCGGCGGGGTACGGTCTTAGGACCTCGATCTCCTTCTCCCTCATTTTCTCTCATCCCTACCTATTGTGGGTGAGTCCTGGCCCCTGGACGGGGACCTCGCTGTTCCACCAGCCCATCCGTGCACACTTAGTTTCCCCTAAAGCAGTGAGTGGCCGGGATAGAACTCAAAACCGGCGGGGCTTCTGGAGCGCAGGTTGTCCCCGGTCTGCCTGTCCATATCGCCCCCTTTCCCCCAGGTTTCCGCATGGGCCGGACCGTGGTCGTGCTGGGCGGAGGCATCAGCGGCTTGGCCGCCAGTTACCACCTGAGCCGGGCCCCCTGCCCCCCTAAGGTGAGTGCTCCACTTGTGCCAGAGGGAGCTTCATTTAATGCTCTTCCCATTTCCATCAAAAGCTAGATGGATCCTGGCCCTCTGAATATGCCTCTTCCCCTCCCCTCCTGACCTCTCGCCGGCGGCTACAGGCGGTGCTGCAGTGTCTCTCCCTCTTGTCGCCAGGTGGTCCTAGTGGAGAGCAGTGAGCGTCTGGGAGGCTGGATTCGCTCCGTTCGAGGCCCTAATGGTGCTATCTTTGAGCTTGGACCTCGGGGAATTAGGCCAGCGGGAGCCCTAGGGGCCCGGACCTTGCTCCTGGTGAGAGGCTTGTGGGATGTCTAGGAGAGGTTGTGGAGGGGGCTTCCATTGGGGAATAGAGTTTAGGGGAGGAAGTATGTTTGGTGGGTCAGATCTTCCCTTAGTTTCTCCTCTTCTGAGGGCATGTGGAGAGCAGGTTTCTGAGCTTGGCTTGGATTCAGAAGTGCTGCCTGTCCGGGGAGACCACCCAGCTGCCCAGAACAGGTTCCTCTACGTGGGCGGTGCCCTGCATGCCCTACCCACTGGCCTCAGGTAACACCAGCACCTCCGCTCCTTTTACTGTGCCCTCATCCTCATATGCCTTCCATTTCTTTCTTCTTTTCTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTATCGCTCTCGCCCAGGATGGAGTGCAATGGCGCGATCTTGGCTCACTGCAACTTCCGCCTTTCGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGTGCCTACCACCACGTCTGGCTAGTTTTTGTATTTTTAGTAGAGATGGGGTTTCACCATATTGGCCAGGCTGGTCTTGAACTCCTGACCTTGTGATCCGCCCGCCTCGGCCTGCCAAAGTGCTGGGATTACAGGCGTGAGCCACCACGCCCGACCTGCCTTCCATTTCTTCATCTCCCTGTCAGCCTTCCCAGCAAAAGGAAGCCAAATGAGTGGAAATGACCCCAGCGCCTGGAGCTGGGGAGGTATGTCAGGAGCTTCCCCCTCACTATGCCTTTCTCCATGCAGGGGGCTACTCCGCCCTTCACCCCCCTTCTCCAAACCTCTGTTTTGGGCTGGGCTGAGGGAGCTGACCAAGCCCCGGGGCAAAGAGCCTGATGAGACTGTGCACAGTTTTGCCCAGCGCCGCCTTGGACCTGAGGTGACACTTGCCCAGAGGCCCCAAACCTCTTCCCTCCTAAACCAGCTGCAGAGCTCCCTGTTCAAATCTACCACCTAGGGGCTCTTCTGTATCATTTGGGGATGCCCTCTTCTCTTCATACCCCACCCCCTCATAATTCCCAAAACTCATTATTGGGAGTGAAGGCCTTCATTTCCATCCGTCACAGTGGGAATGTCCCCCAACCCAAACCCTATCCCACCCTCATTCCCTACCAAATAGGGGCTGTGGAAATCAGTCAGTGTAGATTATTTTTTCGCTCCTTAGTCCTAGTCTCACCCTTAAGGTGGCGTCTCTAGCCATGGACAGTCTCTGCCGTGGAGTGTTTGCAGGCAACAGCCGTGAGCTCAGCATCAGGTCCTGCTTTCCCAGTCTCTTCCAAGCTGAGCAAACCCATCGTTCCATATTACTGGGCCTGCTGCTGGGGGCAGGTGAGGGGGGATTGATTCAGAGGGTGAAAATATTAAGTACTGCCAAAGTGAGGGAGTGGGGACAAGGGGTGCTATTCAATGATTCTTTTTTTCTTTTTTGAGACGGAGTCTTGCTCTGCTGCCTAGGCTGGAGTGCAGTGGTGCAATCTCAGATCGGCTCGCTGCAACCTCCGCCTCCCAGATTCAAGCAATTCTCCTGCCTCAGCCTCTTAAGTAGCTGGGATTACAAACATGTGCCACCACTCCCAGCTAATCTTTGTATTTTTTTGTAGAGATGCAGTTTCACTATGTTGGCCAGGCTGGTCTCAAACTCCTGACCT
ACTGCCTCCCAAATGCTCCTTAACCAGGGCTTAGATCTGAATCGATTTTCTGCCTCCCGAGGCTCCATCAAAAAAAGTTCAGTAGGTGTAGACTTTCCACTGCAGCGACTGAGCCTAGGGGACTTTGCCAGTGACAAAGCCGGTGAGTCTGGTGGGGAAAGTCCTAAGGAGCCAAAGGAGTGGGGGCACAGCTCTGATTATAGAACTTGATCATCTCCAACCCCGCAGGAAGTCCTGTATACCAGCTGTATGCCCTTTGCAACCACTCAGGCAGCGTCCACTATGGCCACTACACAGCCCTGTGCCGGTGCCAGACTGGTTGGCATGTCTACAATGACTCTCGGTGAGAATAGCCTCCTATTTACATCCTGCCCCATTCCCACTCAGCCCTGACACCCTCCCCTTCTATGAAGCTCCAGGAGAGCAGAGTGCCAGGTGAAAGGAGAGGTGGAGGTCTTGCCTGATCATTTCCTGGATGCTCTGAGGTTCGGTCTTGTAGGGAGAAGGGAGTAAACAGGAATGACCACAACCCTTTCCCGATCTCCTTTTTTCCTAGTGTCTCCCCTGTCAGTGAAAACCAGGTGGCATCCAGCGAGGGCTACGTGCTGTTCTACCAACTGATGCAGGAGCCACCCCGGTGCCTGTGACACCTCTAAGCTCTGGCACCTGTGAAGCCCTTTAAACACCCTTAAGCCCCAGGCTCCCCGTTTACCTCAGAGACGTCTATTTTTGTGTCTTTTTAATCGGGGAGGGGGGAGGGGGTGGTTGTAGCTCCATTATTTTTTTTATTAAAAAATACCCTTCCACCTGGAGGCTCCCTTGTCTCCCAGCCCCATGTACAAAGCTCACCAAGCCCCTGCCCATGTACAGCCCCCAGACCCTCTGCAATATCACTTTTTGTGAATAAATTTATTAAGAAAAAATGATGTGCTTATTTGTATTTTTGCTTAGGGGGTGATAGAGAACTGAGCCAAATTGGAGTCTTCTTGGGACCCAAGTTCCCTCTCTAACAGGTGGGGGCGCTCTCAGAGCCGAGGGGGAAGGTTTCGGGGATGGTGCTGGACCCGGACCTGTGTCCCCCAGCAGTGAAGGTTATGTACTGGGAGGAAAAGAGGAAAGGCATACTTGAGTGAGGCTGCGTGCAGGCTCTGGGGCGACTGGTTTGGTCGGCGATGGGGGAGTGCCACTGTTGACAAACACTGGGTACGTTGCCGGGCGGCCCTAGCTCCCGTAGGCCCGGTCTGTTGCTAACATCAAGGAGCTGTTTATGGAGCCGCCTCCCCGTGGACTGGCCTTAAGTGTCCCTATCTATTCTCCCTACGACCAAAGCTCCTGCGGCCTTCCCTCTAGGGTTGTCACCCTAGCTGGACCTGGTAAGCTTGTGCTGGGGAACGCTAACTCCAGCATTAAGCGCTCGCCGCCTCGGTCCTGAGGAGGGCAGTGACGGGTACGGCCGCTCACTCCCAGCTCGGCGCTAACACGGTTAACCTCCAGCTCTTACAGCTGCCGTCGCTCCGCCTCTGCCAGTTCAATGTTTTATTGGTGAACGTGATCCGGGGCCTTCCAAGTCCCGCCAATCCAGATGTAGGAGAGGTAGGGTTAGGCGCGTGCCGCGAGAACAGAGTGGACGGAGCGTAGGAGAGACCGAAAAGGCTGGGGGTGGGAGTAGCGGATTTGAAGCACTTGTTGGCCTACAGAGGTGTGGCAAGCAGAGCACCTCAGAACTCAGGCGTACTGCCCGCCGCCCGAGCCCTGCGAGGGCCGATAGCGAGGGTGTGGCCCTTATCTGCACCCAGCAGAGCGCCGGCGGGGTACGGTCTTAGGACCTCGATCTCCTTCTCCCTCATTTTCTCTCATCCCTACCTATTGTGGGTGAGTCCTGGCCCCTGGACGGGGACCTCGCTGTTCCACCAGCCCATCCGTGCACACTTAGTTTCCCCTAAAGCAGTGAGTGGCCGGGATAGAACTCAAAACCGGCGGGGCTTCTGGAGCGCAGGTTGTCCCCGGTCTGCCTGTCCATATCGCCCCCTTTCCCCCAGGTTTCCGCACGGGCCGGACCGTGGTCGTGCTGGGCGGAGGCATCAGCGGCTTGGCCGCCAGTTACCACCTGAGCCGGGCCCCCTGCCCCCCTAAGGTGAGTGCTCCACTTGTGCCAGAGGGAGCTTCATTTAATGCTCTTCCCATTTCCATCAAAAGCTAGATGGATCCTGGCCCTCTGAATATGCCTCTTCCCCTCCCCTCCTGACCTCTCGCCGGCGGCTACAGGCGGTGCTGCAGTGTCTCTCCCTCTTGTCGCCAGGTGGTCCTAGTGGAGAGCAGTGAGCGTCTGGGAGGCTGGATTCGCTCCGTTCGAGGCCCTAATGGTGCTATCTTTGAGCTTGGACCTCGGGGAATTAGGCCAGCGGGAGCCCTAGGGGCCCGGACCTTGCTCCTGGTGAGAGGCTTGTGGGATGTCTAGGAGAGGTTGTGGAGGGGGCTTCCATTGGGGAATAGAGTTTAGGGGAGGAAGTATGTTTGGTGGGTCAGATCTTCCCTTAGTTTCTCCTCTTCTGAGGGCATGTGGAGAGCAGGTTTCTGAGCTTGGCTTGGATTCAGAAGTGCTGCCTGTCCGGGGAGACCACCCAGCTGCCCAGAACAGGTTCCTCTACGTGGGCGGTGCCCTGCATGCCCTACCCACTGGCCTCAGGTAACACCAGCACCTCCGCTCCTTTTACTGTGCCCTCATCCTCATATGCCTTCCATTTCTTTCTTCTTTTCTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTATCGCTCTCGCCCAGGATGGAGTGCAATGGCGCGATCTTGGCTCACTGCAACTTCCGCCTTTCGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGTGCCTACCACCACGTCTGGCTAGTTTTTGTATTTTTAGTAGAGATGGGGTTTCACCATATTGGCCAGGCTGGTCTTGAACTCCTGACCTTGTGATCCGCCCGCCTCGGCCTGCCAAAGTGCTGGGATTACAGGCGTGAGCCACCACGCCCGACCTGCCTTCCATTTCTTCATCTCCCTGTCAGCCTTCCCAGCAAAAGGAAGCCAAATGAGTGGAAATGACCCCAGCGCCTGGAGCTGGGGAGGTATGTCAGGAGCTTCCCCCTCACTATGCCTTTCTCCATGCAGGGGGCTACTCCGCCCTTCACCCCCCTTCTCCAAACCTCTGTTTTGGGCTGGGCTGAGGGAGCTGACCAAGCCCCGGGGCAAAGAGCCTGATGAGACTGTGCACAGTTTTGCCCAGCGCCGCCTTGGACCTGAGGTGACACTTGCCCAGAGGCCCCAAACCTCTTCCCTCCTAAACCAGCTGCAGAGCTCCCTGTTCAAATCTACCACCTAGGGGCTCTTCTGTATCATTTGGGGATGCCCTCTTCTCTTCATACCCCACCCCCTCATAATTCCCAAAACTCATTATTGGGAGTGAAGGCCTTCATTTCCATCCGTCACAGTGGGAATGTCCCCCAACCCAAACCCTATCCCACCCTCATTCCCTACCAAATAGGGGCTGTGGAAATCAGTCAGTGTAGATTATTTTTTCGCTCCTTAGTCCTAGTCTCACCCTTAAGGTGGCGTCTCTAGCCATGGACAGTCTCTGCCGTGGAGTGTTTGCAGGCAACAGCCGTGAGCTCAGCATCAGGTCCTGCTTTCCCAGTCTCTTCCAAGCTGAGCAAACCCATCGTTCCATATTACTGGGCCTGCTGCTGGGGGCAGGTGAGGGGGGATTGATTCAGAGGGTGAAAATATTAAGTACTGCCAAAGTGAGGGAGTGGGGACAAGGGGTGCTATTCAATGATTCTTTTTTTCTTTTTTGAGACGGAGTCTTGCTCTGCTGCCTAGGCTGGAGTGCAGTGGTGCAATCTCAGATCGGCTCGCTGCAACCTCCGCCTCCCAGATTCAAGCAATTCTCCTGCCTCAGCCTCTTAAGTAGCTGGGATTACAAACATGTGCCACCACTCCCAGCTAATCTTTGTATTTTTTTGTAGAGATGCAGTTTCACTATGTTGGCCAGGCTGGTCTCAAACTCCTGACCT
Task1_train_1982
A mutation in PPOX (protoporphyrinogen oxidase), located on Chromosome 1, is being studied. Determine whether it’s pathogenic or benign, and specify the linked disease.
Pathogenic; Variegate porphyria
GATCTGAATCGATTTTCTGCCTCCCGAGGCTCCATCAAAAAAAGTTCAGTAGGTGTAGACTTTCCACTGCAGCGACTGAGCCTAGGGGACTTTGCCAGTGACAAAGCCGGTGAGTCTGGTGGGGAAAGTCCTAAGGAGCCAAAGGAGTGGGGGCACAGCTCTGATTATAGAACTTGATCATCTCCAACCCCGCAGGAAGTCCTGTATACCAGCTGTATGCCCTTTGCAACCACTCAGGCAGCGTCCACTATGGCCACTACACAGCCCTGTGCCGGTGCCAGACTGGTTGGCATGTCTACAATGACTCTCGGTGAGAATAGCCTCCTATTTACATCCTGCCCCATTCCCACTCAGCCCTGACACCCTCCCCTTCTATGAAGCTCCAGGAGAGCAGAGTGCCAGGTGAAAGGAGAGGTGGAGGTCTTGCCTGATCATTTCCTGGATGCTCTGAGGTTCGGTCTTGTAGGGAGAAGGGAGTAAACAGGAATGACCACAACCCTTTCCCGATCTCCTTTTTTCCTAGTGTCTCCCCTGTCAGTGAAAACCAGGTGGCATCCAGCGAGGGCTACGTGCTGTTCTACCAACTGATGCAGGAGCCACCCCGGTGCCTGTGACACCTCTAAGCTCTGGCACCTGTGAAGCCCTTTAAACACCCTTAAGCCCCAGGCTCCCCGTTTACCTCAGAGACGTCTATTTTTGTGTCTTTTTAATCGGGGAGGGGGGAGGGGGTGGTTGTAGCTCCATTATTTTTTTTATTAAAAAATACCCTTCCACCTGGAGGCTCCCTTGTCTCCCAGCCCCATGTACAAAGCTCACCAAGCCCCTGCCCATGTACAGCCCCCAGACCCTCTGCAATATCACTTTTTGTGAATAAATTTATTAAGAAAAAATGATGTGCTTATTTGTATTTTTGCTTAGGGGGTGATAGAGAACTGAGCCAAATTGGAGTCTTCTTGGGACCCAAGTTCCCTCTCTAACAGGTGGGGGCGCTCTCAGAGCCGAGGGGGAAGGTTTCGGGGATGGTGCTGGACCCGGACCTGTGTCCCCCAGCAGTGAAGGTTATGTACTGGGAGGAAAAGAGGAAAGGCATACTTGAGTGAGGCTGCGTGCAGGCTCTGGGGCGACTGGTTTGGTCGGCGATGGGGGAGTGCCACTGTTGACAAACACTGGGTACGTTGCCGGGCGGCCCTAGCTCCCGTAGGCCCGGTCTGTTGCTAACATCAAGGAGCTGTTTATGGAGCCGCCTCCCCGTGGACTGGCCTTAAGTGTCCCTATCTATTCTCCCTACGACCAAAGCTCCTGCGGCCTTCCCTCTAGGGTTGTCACCCTAGCTGGACCTGGTAAGCTTGTGCTGGGGAACGCTAACTCCAGCATTAAGCGCTCGCCGCCTCGGTCCTGAGGAGGGCAGTGACGGGTACGGCCGCTCACTCCCAGCTCGGCGCTAACACGGTTAACCTCCAGCTCTTACAGCTGCCGTCGCTCCGCCTCTGCCAGTTCAATGTTTTATTGGTGAACGTGATCCGGGGCCTTCCAAGTCCCGCCAATCCAGATGTAGGAGAGGTAGGGTTAGGCGCGTGCCGCGAGAACAGAGTGGACGGAGCGTAGGAGAGACCGAAAAGGCTGGGGGTGGGAGTAGCGGATTTGAAGCACTTGTTGGCCTACAGAGGTGTGGCAAGCAGAGCACCTCAGAACTCAGGCGTACTGCCCGCCGCCCGAGCCCTGCGAGGGCCGATAGCGAGGGTGTGGCCCTTATCTGCACCCAGCAGAGCGCCGGCGGGGTACGGTCTTAGGACCTCGATCTCCTTCTCCCTCATTTTCTCTCATCCCTACCTATTGTGGGTGAGTCCTGGCCCCTGGACGGGGACCTCGCTGTTCCACCAGCCCATCCGTGCACACTTAGTTTCCCCTAAAGCAGTGAGTGGCCGGGATAGAACTCAAAACCGGCGGGGCTTCTGGAGCGCAGGTTGTCCCCGGTCTGCCTGTCCATATCGCCCCCTTTCCCCCAGGTTTCCGCATGGGCCGGACCGTGGTCGTGCTGGGCGGAGGCATCAGCGGCTTGGCCGCCAGTTACCACCTGAGCCGGGCCCCCTGCCCCCCTAAGGTGAGTGCTCCACTTGTGCCAGAGGGAGCTTCATTTAATGCTCTTCCCATTTCCATCAAAAGCTAGATGGATCCTGGCCCTCTGAATATGCCTCTTCCCCTCCCCTCCTGACCTCTCGCCGGCGGCTACAGGCGGTGCTGCAGTGTCTCTCCCTCTTGTCGCCAGGTGGTCCTAGTGGAGAGCAGTGAGCGTCTGGGAGGCTGGATTCGCTCCGTTCGAGGCCCTAATGGTGCTATCTTTGAGCTTGGACCTCGGGGAATTAGGCCAGCGGGAGCCCTAGGGGCCCGGACCTTGCTCCTGGTGAGAGGCTTGTGGGATGTCTAGGAGAGGTTGTGGAGGGGGCTTCCATTGGGGAATAGAGTTTAGGGGAGGAAGTATGTTTGGTGGGTCAGATCTTCCCTTAGTTTCTCCTCTTCTGAGGGCATGTGGAGAGCAGGTTTCTGAGCTTGGCTTGGATTCAGAAGTGCTGCCTGTCCGGGGAGACCACCCAGCTGCCCAGAACAGGTTCCTCTACGTGGGCGGTGCCCTGCATGCCCTACCCACTGGCCTCAGGTAACACCAGCACCTCCGCTCCTTTTACTGTGCCCTCATCCTCATATGCCTTCCATTTCTTTCTTCTTTTCTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTATCGCTCTCGCCCAGGATGGAGTGCAATGGCGCGATCTTGGCTCACTGCAACTTCCGCCTTTCGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGTGCCTACCACCACGTCTGGCTAGTTTTTGTATTTTTAGTAGAGATGGGGTTTCACCATATTGGCCAGGCTGGTCTTGAACTCCTGACCTTGTGATCCGCCCGCCTCGGCCTGCCAAAGTGCTGGGATTACAGGCGTGAGCCACCACGCCCGACCTGCCTTCCATTTCTTCATCTCCCTGTCAGCCTTCCCAGCAAAAGGAAGCCAAATGAGTGGAAATGACCCCAGCGCCTGGAGCTGGGGAGGTATGTCAGGAGCTTCCCCCTCACTATGCCTTTCTCCATGCAGGGGGCTACTCCGCCCTTCACCCCCCTTCTCCAAACCTCTGTTTTGGGCTGGGCTGAGGGAGCTGACCAAGCCCCGGGGCAAAGAGCCTGATGAGACTGTGCACAGTTTTGCCCAGCGCCGCCTTGGACCTGAGGTGACACTTGCCCAGAGGCCCCAAACCTCTTCCCTCCTAAACCAGCTGCAGAGCTCCCTGTTCAAATCTACCACCTAGGGGCTCTTCTGTATCATTTGGGGATGCCCTCTTCTCTTCATACCCCACCCCCTCATAATTCCCAAAACTCATTATTGGGAGTGAAGGCCTTCATTTCCATCCGTCACAGTGGGAATGTCCCCCAACCCAAACCCTATCCCACCCTCATTCCCTACCAAATAGGGGCTGTGGAAATCAGTCAGTGTAGATTATTTTTTCGCTCCTTAGTCCTAGTCTCACCCTTAAGGTGGCGTCTCTAGCCATGGACAGTCTCTGCCGTGGAGTGTTTGCAGGCAACAGCCGTGAGCTCAGCATCAGGTCCTGCTTTCCCAGTCTCTTCCAAGCTGAGCAAACCCATCGTTCCATATTACTGGGCCTGCTGCTGGGGGCAGGTGAGGGGGGATTGATTCAGAGGGTGAAAATATTAAGTACTGCCAAAGTGAGGGAGTGGGGACAAGGGGTGCTATTCAATGATTCTTTTTTTCTTTTTTGAGACGGAGTCTTGCTCTGCTGCCTAGGCTGGAGTGCAGTGGTGCAATCTCAGATCGGCTCGCTGCAACCTCCGCCTCCCAGATTCAAGCAATTCTCCTGCCTCAGCCTCTTAAGTAGCTGGGATTACAAACATGTGCCACCACTCCCAGCTAATCTTTGTATTTTTTTGTAGAGATGCAGTTTCACTATGTTGGCCAGGCTGGTCTCAAACTCCTGACCTCAAGTGATCCACCCGCCTCGGCCTCCTAAAGTG
GATCTGAATCGATTTTCTGCCTCCCGAGGCTCCATCAAAAAAAGTTCAGTAGGTGTAGACTTTCCACTGCAGCGACTGAGCCTAGGGGACTTTGCCAGTGACAAAGCCGGTGAGTCTGGTGGGGAAAGTCCTAAGGAGCCAAAGGAGTGGGGGCACAGCTCTGATTATAGAACTTGATCATCTCCAACCCCGCAGGAAGTCCTGTATACCAGCTGTATGCCCTTTGCAACCACTCAGGCAGCGTCCACTATGGCCACTACACAGCCCTGTGCCGGTGCCAGACTGGTTGGCATGTCTACAATGACTCTCGGTGAGAATAGCCTCCTATTTACATCCTGCCCCATTCCCACTCAGCCCTGACACCCTCCCCTTCTATGAAGCTCCAGGAGAGCAGAGTGCCAGGTGAAAGGAGAGGTGGAGGTCTTGCCTGATCATTTCCTGGATGCTCTGAGGTTCGGTCTTGTAGGGAGAAGGGAGTAAACAGGAATGACCACAACCCTTTCCCGATCTCCTTTTTTCCTAGTGTCTCCCCTGTCAGTGAAAACCAGGTGGCATCCAGCGAGGGCTACGTGCTGTTCTACCAACTGATGCAGGAGCCACCCCGGTGCCTGTGACACCTCTAAGCTCTGGCACCTGTGAAGCCCTTTAAACACCCTTAAGCCCCAGGCTCCCCGTTTACCTCAGAGACGTCTATTTTTGTGTCTTTTTAATCGGGGAGGGGGGAGGGGGTGGTTGTAGCTCCATTATTTTTTTTATTAAAAAATACCCTTCCACCTGGAGGCTCCCTTGTCTCCCAGCCCCATGTACAAAGCTCACCAAGCCCCTGCCCATGTACAGCCCCCAGACCCTCTGCAATATCACTTTTTGTGAATAAATTTATTAAGAAAAAATGATGTGCTTATTTGTATTTTTGCTTAGGGGGTGATAGAGAACTGAGCCAAATTGGAGTCTTCTTGGGACCCAAGTTCCCTCTCTAACAGGTGGGGGCGCTCTCAGAGCCGAGGGGGAAGGTTTCGGGGATGGTGCTGGACCCGGACCTGTGTCCCCCAGCAGTGAAGGTTATGTACTGGGAGGAAAAGAGGAAAGGCATACTTGAGTGAGGCTGCGTGCAGGCTCTGGGGCGACTGGTTTGGTCGGCGATGGGGGAGTGCCACTGTTGACAAACACTGGGTACGTTGCCGGGCGGCCCTAGCTCCCGTAGGCCCGGTCTGTTGCTAACATCAAGGAGCTGTTTATGGAGCCGCCTCCCCGTGGACTGGCCTTAAGTGTCCCTATCTATTCTCCCTACGACCAAAGCTCCTGCGGCCTTCCCTCTAGGGTTGTCACCCTAGCTGGACCTGGTAAGCTTGTGCTGGGGAACGCTAACTCCAGCATTAAGCGCTCGCCGCCTCGGTCCTGAGGAGGGCAGTGACGGGTACGGCCGCTCACTCCCAGCTCGGCGCTAACACGGTTAACCTCCAGCTCTTACAGCTGCCGTCGCTCCGCCTCTGCCAGTTCAATGTTTTATTGGTGAACGTGATCCGGGGCCTTCCAAGTCCCGCCAATCCAGATGTAGGAGAGGTAGGGTTAGGCGCGTGCCGCGAGAACAGAGTGGACGGAGCGTAGGAGAGACCGAAAAGGCTGGGGGTGGGAGTAGCGGATTTGAAGCACTTGTTGGCCTACAGAGGTGTGGCAAGCAGAGCACCTCAGAACTCAGGCGTACTGCCCGCCGCCCGAGCCCTGCGAGGGCCGATAGCGAGGGTGTGGCCCTTATCTGCACCCAGCAGAGCGCCGGCGGGGTACGGTCTTAGGACCTCGATCTCCTTCTCCCTCATTTTCTCTCATCCCTACCTATTGTGGGTGAGTCCTGGCCCCTGGACGGGGACCTCGCTGTTCCACCAGCCCATCCGTGCACACTTAGTTTCCCCTAAAGCAGTGAGTGGCCGGGATAGAACTCAAAACCGGCGGGGCTTCTGGAGCGCAGGTTGTCCCCGGTCTGCCTGTCCATATCGCCCCCTTTCCCCCAGGTTTCCGCATGGGCCGGACCGTGGTCGTGCTGGGCGGAGGCACCAGCGGCTTGGCCGCCAGTTACCACCTGAGCCGGGCCCCCTGCCCCCCTAAGGTGAGTGCTCCACTTGTGCCAGAGGGAGCTTCATTTAATGCTCTTCCCATTTCCATCAAAAGCTAGATGGATCCTGGCCCTCTGAATATGCCTCTTCCCCTCCCCTCCTGACCTCTCGCCGGCGGCTACAGGCGGTGCTGCAGTGTCTCTCCCTCTTGTCGCCAGGTGGTCCTAGTGGAGAGCAGTGAGCGTCTGGGAGGCTGGATTCGCTCCGTTCGAGGCCCTAATGGTGCTATCTTTGAGCTTGGACCTCGGGGAATTAGGCCAGCGGGAGCCCTAGGGGCCCGGACCTTGCTCCTGGTGAGAGGCTTGTGGGATGTCTAGGAGAGGTTGTGGAGGGGGCTTCCATTGGGGAATAGAGTTTAGGGGAGGAAGTATGTTTGGTGGGTCAGATCTTCCCTTAGTTTCTCCTCTTCTGAGGGCATGTGGAGAGCAGGTTTCTGAGCTTGGCTTGGATTCAGAAGTGCTGCCTGTCCGGGGAGACCACCCAGCTGCCCAGAACAGGTTCCTCTACGTGGGCGGTGCCCTGCATGCCCTACCCACTGGCCTCAGGTAACACCAGCACCTCCGCTCCTTTTACTGTGCCCTCATCCTCATATGCCTTCCATTTCTTTCTTCTTTTCTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTATCGCTCTCGCCCAGGATGGAGTGCAATGGCGCGATCTTGGCTCACTGCAACTTCCGCCTTTCGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGTGCCTACCACCACGTCTGGCTAGTTTTTGTATTTTTAGTAGAGATGGGGTTTCACCATATTGGCCAGGCTGGTCTTGAACTCCTGACCTTGTGATCCGCCCGCCTCGGCCTGCCAAAGTGCTGGGATTACAGGCGTGAGCCACCACGCCCGACCTGCCTTCCATTTCTTCATCTCCCTGTCAGCCTTCCCAGCAAAAGGAAGCCAAATGAGTGGAAATGACCCCAGCGCCTGGAGCTGGGGAGGTATGTCAGGAGCTTCCCCCTCACTATGCCTTTCTCCATGCAGGGGGCTACTCCGCCCTTCACCCCCCTTCTCCAAACCTCTGTTTTGGGCTGGGCTGAGGGAGCTGACCAAGCCCCGGGGCAAAGAGCCTGATGAGACTGTGCACAGTTTTGCCCAGCGCCGCCTTGGACCTGAGGTGACACTTGCCCAGAGGCCCCAAACCTCTTCCCTCCTAAACCAGCTGCAGAGCTCCCTGTTCAAATCTACCACCTAGGGGCTCTTCTGTATCATTTGGGGATGCCCTCTTCTCTTCATACCCCACCCCCTCATAATTCCCAAAACTCATTATTGGGAGTGAAGGCCTTCATTTCCATCCGTCACAGTGGGAATGTCCCCCAACCCAAACCCTATCCCACCCTCATTCCCTACCAAATAGGGGCTGTGGAAATCAGTCAGTGTAGATTATTTTTTCGCTCCTTAGTCCTAGTCTCACCCTTAAGGTGGCGTCTCTAGCCATGGACAGTCTCTGCCGTGGAGTGTTTGCAGGCAACAGCCGTGAGCTCAGCATCAGGTCCTGCTTTCCCAGTCTCTTCCAAGCTGAGCAAACCCATCGTTCCATATTACTGGGCCTGCTGCTGGGGGCAGGTGAGGGGGGATTGATTCAGAGGGTGAAAATATTAAGTACTGCCAAAGTGAGGGAGTGGGGACAAGGGGTGCTATTCAATGATTCTTTTTTTCTTTTTTGAGACGGAGTCTTGCTCTGCTGCCTAGGCTGGAGTGCAGTGGTGCAATCTCAGATCGGCTCGCTGCAACCTCCGCCTCCCAGATTCAAGCAATTCTCCTGCCTCAGCCTCTTAAGTAGCTGGGATTACAAACATGTGCCACCACTCCCAGCTAATCTTTGTATTTTTTTGTAGAGATGCAGTTTCACTATGTTGGCCAGGCTGGTCTCAAACTCCTGACCTCAAGTGATCCACCCGCCTCGGCCTCCTAAAGTG
Task1_train_1983
This mutation is located in gene PPOX (protoporphyrinogen oxidase) on Chromosome 1. Is it associated with a disease or is it a benign polymorphism?
Pathogenic; Variegate porphyria, childhood-onset
GATCTGAATCGATTTTCTGCCTCCCGAGGCTCCATCAAAAAAAGTTCAGTAGGTGTAGACTTTCCACTGCAGCGACTGAGCCTAGGGGACTTTGCCAGTGACAAAGCCGGTGAGTCTGGTGGGGAAAGTCCTAAGGAGCCAAAGGAGTGGGGGCACAGCTCTGATTATAGAACTTGATCATCTCCAACCCCGCAGGAAGTCCTGTATACCAGCTGTATGCCCTTTGCAACCACTCAGGCAGCGTCCACTATGGCCACTACACAGCCCTGTGCCGGTGCCAGACTGGTTGGCATGTCTACAATGACTCTCGGTGAGAATAGCCTCCTATTTACATCCTGCCCCATTCCCACTCAGCCCTGACACCCTCCCCTTCTATGAAGCTCCAGGAGAGCAGAGTGCCAGGTGAAAGGAGAGGTGGAGGTCTTGCCTGATCATTTCCTGGATGCTCTGAGGTTCGGTCTTGTAGGGAGAAGGGAGTAAACAGGAATGACCACAACCCTTTCCCGATCTCCTTTTTTCCTAGTGTCTCCCCTGTCAGTGAAAACCAGGTGGCATCCAGCGAGGGCTACGTGCTGTTCTACCAACTGATGCAGGAGCCACCCCGGTGCCTGTGACACCTCTAAGCTCTGGCACCTGTGAAGCCCTTTAAACACCCTTAAGCCCCAGGCTCCCCGTTTACCTCAGAGACGTCTATTTTTGTGTCTTTTTAATCGGGGAGGGGGGAGGGGGTGGTTGTAGCTCCATTATTTTTTTTATTAAAAAATACCCTTCCACCTGGAGGCTCCCTTGTCTCCCAGCCCCATGTACAAAGCTCACCAAGCCCCTGCCCATGTACAGCCCCCAGACCCTCTGCAATATCACTTTTTGTGAATAAATTTATTAAGAAAAAATGATGTGCTTATTTGTATTTTTGCTTAGGGGGTGATAGAGAACTGAGCCAAATTGGAGTCTTCTTGGGACCCAAGTTCCCTCTCTAACAGGTGGGGGCGCTCTCAGAGCCGAGGGGGAAGGTTTCGGGGATGGTGCTGGACCCGGACCTGTGTCCCCCAGCAGTGAAGGTTATGTACTGGGAGGAAAAGAGGAAAGGCATACTTGAGTGAGGCTGCGTGCAGGCTCTGGGGCGACTGGTTTGGTCGGCGATGGGGGAGTGCCACTGTTGACAAACACTGGGTACGTTGCCGGGCGGCCCTAGCTCCCGTAGGCCCGGTCTGTTGCTAACATCAAGGAGCTGTTTATGGAGCCGCCTCCCCGTGGACTGGCCTTAAGTGTCCCTATCTATTCTCCCTACGACCAAAGCTCCTGCGGCCTTCCCTCTAGGGTTGTCACCCTAGCTGGACCTGGTAAGCTTGTGCTGGGGAACGCTAACTCCAGCATTAAGCGCTCGCCGCCTCGGTCCTGAGGAGGGCAGTGACGGGTACGGCCGCTCACTCCCAGCTCGGCGCTAACACGGTTAACCTCCAGCTCTTACAGCTGCCGTCGCTCCGCCTCTGCCAGTTCAATGTTTTATTGGTGAACGTGATCCGGGGCCTTCCAAGTCCCGCCAATCCAGATGTAGGAGAGGTAGGGTTAGGCGCGTGCCGCGAGAACAGAGTGGACGGAGCGTAGGAGAGACCGAAAAGGCTGGGGGTGGGAGTAGCGGATTTGAAGCACTTGTTGGCCTACAGAGGTGTGGCAAGCAGAGCACCTCAGAACTCAGGCGTACTGCCCGCCGCCCGAGCCCTGCGAGGGCCGATAGCGAGGGTGTGGCCCTTATCTGCACCCAGCAGAGCGCCGGCGGGGTACGGTCTTAGGACCTCGATCTCCTTCTCCCTCATTTTCTCTCATCCCTACCTATTGTGGGTGAGTCCTGGCCCCTGGACGGGGACCTCGCTGTTCCACCAGCCCATCCGTGCACACTTAGTTTCCCCTAAAGCAGTGAGTGGCCGGGATAGAACTCAAAACCGGCGGGGCTTCTGGAGCGCAGGTTGTCCCCGGTCTGCCTGTCCATATCGCCCCCTTTCCCCCAGGTTTCCGCATGGGCCGGACCGTGGTCGTGCTGGGCGGAGGCATCAGCGGCTTGGCCGCCAGTTACCACCTGAGCCGGGCCCCCTGCCCCCCTAAGGTGAGTGCTCCACTTGTGCCAGAGGGAGCTTCATTTAATGCTCTTCCCATTTCCATCAAAAGCTAGATGGATCCTGGCCCTCTGAATATGCCTCTTCCCCTCCCCTCCTGACCTCTCGCCGGCGGCTACAGGCGGTGCTGCAGTGTCTCTCCCTCTTGTCGCCAGGTGGTCCTAGTGGAGAGCAGTGAGCGTCTGGGAGGCTGGATTCGCTCCGTTCGAGGCCCTAATGGTGCTATCTTTGAGCTTGGACCTCGGGGAATTAGGCCAGCGGGAGCCCTAGGGGCCCGGACCTTGCTCCTGGTGAGAGGCTTGTGGGATGTCTAGGAGAGGTTGTGGAGGGGGCTTCCATTGGGGAATAGAGTTTAGGGGAGGAAGTATGTTTGGTGGGTCAGATCTTCCCTTAGTTTCTCCTCTTCTGAGGGCATGTGGAGAGCAGGTTTCTGAGCTTGGCTTGGATTCAGAAGTGCTGCCTGTCCGGGGAGACCACCCAGCTGCCCAGAACAGGTTCCTCTACGTGGGCGGTGCCCTGCATGCCCTACCCACTGGCCTCAGGTAACACCAGCACCTCCGCTCCTTTTACTGTGCCCTCATCCTCATATGCCTTCCATTTCTTTCTTCTTTTCTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTATCGCTCTCGCCCAGGATGGAGTGCAATGGCGCGATCTTGGCTCACTGCAACTTCCGCCTTTCGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGTGCCTACCACCACGTCTGGCTAGTTTTTGTATTTTTAGTAGAGATGGGGTTTCACCATATTGGCCAGGCTGGTCTTGAACTCCTGACCTTGTGATCCGCCCGCCTCGGCCTGCCAAAGTGCTGGGATTACAGGCGTGAGCCACCACGCCCGACCTGCCTTCCATTTCTTCATCTCCCTGTCAGCCTTCCCAGCAAAAGGAAGCCAAATGAGTGGAAATGACCCCAGCGCCTGGAGCTGGGGAGGTATGTCAGGAGCTTCCCCCTCACTATGCCTTTCTCCATGCAGGGGGCTACTCCGCCCTTCACCCCCCTTCTCCAAACCTCTGTTTTGGGCTGGGCTGAGGGAGCTGACCAAGCCCCGGGGCAAAGAGCCTGATGAGACTGTGCACAGTTTTGCCCAGCGCCGCCTTGGACCTGAGGTGACACTTGCCCAGAGGCCCCAAACCTCTTCCCTCCTAAACCAGCTGCAGAGCTCCCTGTTCAAATCTACCACCTAGGGGCTCTTCTGTATCATTTGGGGATGCCCTCTTCTCTTCATACCCCACCCCCTCATAATTCCCAAAACTCATTATTGGGAGTGAAGGCCTTCATTTCCATCCGTCACAGTGGGAATGTCCCCCAACCCAAACCCTATCCCACCCTCATTCCCTACCAAATAGGGGCTGTGGAAATCAGTCAGTGTAGATTATTTTTTCGCTCCTTAGTCCTAGTCTCACCCTTAAGGTGGCGTCTCTAGCCATGGACAGTCTCTGCCGTGGAGTGTTTGCAGGCAACAGCCGTGAGCTCAGCATCAGGTCCTGCTTTCCCAGTCTCTTCCAAGCTGAGCAAACCCATCGTTCCATATTACTGGGCCTGCTGCTGGGGGCAGGTGAGGGGGGATTGATTCAGAGGGTGAAAATATTAAGTACTGCCAAAGTGAGGGAGTGGGGACAAGGGGTGCTATTCAATGATTCTTTTTTTCTTTTTTGAGACGGAGTCTTGCTCTGCTGCCTAGGCTGGAGTGCAGTGGTGCAATCTCAGATCGGCTCGCTGCAACCTCCGCCTCCCAGATTCAAGCAATTCTCCTGCCTCAGCCTCTTAAGTAGCTGGGATTACAAACATGTGCCACCACTCCCAGCTAATCTTTGTATTTTTTTGTAGAGATGCAGTTTCACTATGTTGGCCAGGCTGGTCTCAAACTCCTGACCTCAAGTGATCCACCCGCCTCGGCCTCCTAAAGTG
GATCTGAATCGATTTTCTGCCTCCCGAGGCTCCATCAAAAAAAGTTCAGTAGGTGTAGACTTTCCACTGCAGCGACTGAGCCTAGGGGACTTTGCCAGTGACAAAGCCGGTGAGTCTGGTGGGGAAAGTCCTAAGGAGCCAAAGGAGTGGGGGCACAGCTCTGATTATAGAACTTGATCATCTCCAACCCCGCAGGAAGTCCTGTATACCAGCTGTATGCCCTTTGCAACCACTCAGGCAGCGTCCACTATGGCCACTACACAGCCCTGTGCCGGTGCCAGACTGGTTGGCATGTCTACAATGACTCTCGGTGAGAATAGCCTCCTATTTACATCCTGCCCCATTCCCACTCAGCCCTGACACCCTCCCCTTCTATGAAGCTCCAGGAGAGCAGAGTGCCAGGTGAAAGGAGAGGTGGAGGTCTTGCCTGATCATTTCCTGGATGCTCTGAGGTTCGGTCTTGTAGGGAGAAGGGAGTAAACAGGAATGACCACAACCCTTTCCCGATCTCCTTTTTTCCTAGTGTCTCCCCTGTCAGTGAAAACCAGGTGGCATCCAGCGAGGGCTACGTGCTGTTCTACCAACTGATGCAGGAGCCACCCCGGTGCCTGTGACACCTCTAAGCTCTGGCACCTGTGAAGCCCTTTAAACACCCTTAAGCCCCAGGCTCCCCGTTTACCTCAGAGACGTCTATTTTTGTGTCTTTTTAATCGGGGAGGGGGGAGGGGGTGGTTGTAGCTCCATTATTTTTTTTATTAAAAAATACCCTTCCACCTGGAGGCTCCCTTGTCTCCCAGCCCCATGTACAAAGCTCACCAAGCCCCTGCCCATGTACAGCCCCCAGACCCTCTGCAATATCACTTTTTGTGAATAAATTTATTAAGAAAAAATGATGTGCTTATTTGTATTTTTGCTTAGGGGGTGATAGAGAACTGAGCCAAATTGGAGTCTTCTTGGGACCCAAGTTCCCTCTCTAACAGGTGGGGGCGCTCTCAGAGCCGAGGGGGAAGGTTTCGGGGATGGTGCTGGACCCGGACCTGTGTCCCCCAGCAGTGAAGGTTATGTACTGGGAGGAAAAGAGGAAAGGCATACTTGAGTGAGGCTGCGTGCAGGCTCTGGGGCGACTGGTTTGGTCGGCGATGGGGGAGTGCCACTGTTGACAAACACTGGGTACGTTGCCGGGCGGCCCTAGCTCCCGTAGGCCCGGTCTGTTGCTAACATCAAGGAGCTGTTTATGGAGCCGCCTCCCCGTGGACTGGCCTTAAGTGTCCCTATCTATTCTCCCTACGACCAAAGCTCCTGCGGCCTTCCCTCTAGGGTTGTCACCCTAGCTGGACCTGGTAAGCTTGTGCTGGGGAACGCTAACTCCAGCATTAAGCGCTCGCCGCCTCGGTCCTGAGGAGGGCAGTGACGGGTACGGCCGCTCACTCCCAGCTCGGCGCTAACACGGTTAACCTCCAGCTCTTACAGCTGCCGTCGCTCCGCCTCTGCCAGTTCAATGTTTTATTGGTGAACGTGATCCGGGGCCTTCCAAGTCCCGCCAATCCAGATGTAGGAGAGGTAGGGTTAGGCGCGTGCCGCGAGAACAGAGTGGACGGAGCGTAGGAGAGACCGAAAAGGCTGGGGGTGGGAGTAGCGGATTTGAAGCACTTGTTGGCCTACAGAGGTGTGGCAAGCAGAGCACCTCAGAACTCAGGCGTACTGCCCGCCGCCCGAGCCCTGCGAGGGCCGATAGCGAGGGTGTGGCCCTTATCTGCACCCAGCAGAGCGCCGGCGGGGTACGGTCTTAGGACCTCGATCTCCTTCTCCCTCATTTTCTCTCATCCCTACCTATTGTGGGTGAGTCCTGGCCCCTGGACGGGGACCTCGCTGTTCCACCAGCCCATCCGTGCACACTTAGTTTCCCCTAAAGCAGTGAGTGGCCGGGATAGAACTCAAAACCGGCGGGGCTTCTGGAGCGCAGGTTGTCCCCGGTCTGCCTGTCCATATCGCCCCCTTTCCCCCAGGTTTCCGCATGGGCCGGACCGTGGTCGTGCTGGGCGGAGGCACCAGCGGCTTGGCCGCCAGTTACCACCTGAGCCGGGCCCCCTGCCCCCCTAAGGTGAGTGCTCCACTTGTGCCAGAGGGAGCTTCATTTAATGCTCTTCCCATTTCCATCAAAAGCTAGATGGATCCTGGCCCTCTGAATATGCCTCTTCCCCTCCCCTCCTGACCTCTCGCCGGCGGCTACAGGCGGTGCTGCAGTGTCTCTCCCTCTTGTCGCCAGGTGGTCCTAGTGGAGAGCAGTGAGCGTCTGGGAGGCTGGATTCGCTCCGTTCGAGGCCCTAATGGTGCTATCTTTGAGCTTGGACCTCGGGGAATTAGGCCAGCGGGAGCCCTAGGGGCCCGGACCTTGCTCCTGGTGAGAGGCTTGTGGGATGTCTAGGAGAGGTTGTGGAGGGGGCTTCCATTGGGGAATAGAGTTTAGGGGAGGAAGTATGTTTGGTGGGTCAGATCTTCCCTTAGTTTCTCCTCTTCTGAGGGCATGTGGAGAGCAGGTTTCTGAGCTTGGCTTGGATTCAGAAGTGCTGCCTGTCCGGGGAGACCACCCAGCTGCCCAGAACAGGTTCCTCTACGTGGGCGGTGCCCTGCATGCCCTACCCACTGGCCTCAGGTAACACCAGCACCTCCGCTCCTTTTACTGTGCCCTCATCCTCATATGCCTTCCATTTCTTTCTTCTTTTCTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTATCGCTCTCGCCCAGGATGGAGTGCAATGGCGCGATCTTGGCTCACTGCAACTTCCGCCTTTCGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGTGCCTACCACCACGTCTGGCTAGTTTTTGTATTTTTAGTAGAGATGGGGTTTCACCATATTGGCCAGGCTGGTCTTGAACTCCTGACCTTGTGATCCGCCCGCCTCGGCCTGCCAAAGTGCTGGGATTACAGGCGTGAGCCACCACGCCCGACCTGCCTTCCATTTCTTCATCTCCCTGTCAGCCTTCCCAGCAAAAGGAAGCCAAATGAGTGGAAATGACCCCAGCGCCTGGAGCTGGGGAGGTATGTCAGGAGCTTCCCCCTCACTATGCCTTTCTCCATGCAGGGGGCTACTCCGCCCTTCACCCCCCTTCTCCAAACCTCTGTTTTGGGCTGGGCTGAGGGAGCTGACCAAGCCCCGGGGCAAAGAGCCTGATGAGACTGTGCACAGTTTTGCCCAGCGCCGCCTTGGACCTGAGGTGACACTTGCCCAGAGGCCCCAAACCTCTTCCCTCCTAAACCAGCTGCAGAGCTCCCTGTTCAAATCTACCACCTAGGGGCTCTTCTGTATCATTTGGGGATGCCCTCTTCTCTTCATACCCCACCCCCTCATAATTCCCAAAACTCATTATTGGGAGTGAAGGCCTTCATTTCCATCCGTCACAGTGGGAATGTCCCCCAACCCAAACCCTATCCCACCCTCATTCCCTACCAAATAGGGGCTGTGGAAATCAGTCAGTGTAGATTATTTTTTCGCTCCTTAGTCCTAGTCTCACCCTTAAGGTGGCGTCTCTAGCCATGGACAGTCTCTGCCGTGGAGTGTTTGCAGGCAACAGCCGTGAGCTCAGCATCAGGTCCTGCTTTCCCAGTCTCTTCCAAGCTGAGCAAACCCATCGTTCCATATTACTGGGCCTGCTGCTGGGGGCAGGTGAGGGGGGATTGATTCAGAGGGTGAAAATATTAAGTACTGCCAAAGTGAGGGAGTGGGGACAAGGGGTGCTATTCAATGATTCTTTTTTTCTTTTTTGAGACGGAGTCTTGCTCTGCTGCCTAGGCTGGAGTGCAGTGGTGCAATCTCAGATCGGCTCGCTGCAACCTCCGCCTCCCAGATTCAAGCAATTCTCCTGCCTCAGCCTCTTAAGTAGCTGGGATTACAAACATGTGCCACCACTCCCAGCTAATCTTTGTATTTTTTTGTAGAGATGCAGTTTCACTATGTTGGCCAGGCTGGTCTCAAACTCCTGACCTCAAGTGATCCACCCGCCTCGGCCTCCTAAAGTG
Task1_train_1984
Consider this mutation in PPOX (protoporphyrinogen oxidase) on Chromosome 1. Is this a benign change or a disease-causing variant?
Pathogenic; Variegate porphyria
CGAGGCTCCATCAAAAAAAGTTCAGTAGGTGTAGACTTTCCACTGCAGCGACTGAGCCTAGGGGACTTTGCCAGTGACAAAGCCGGTGAGTCTGGTGGGGAAAGTCCTAAGGAGCCAAAGGAGTGGGGGCACAGCTCTGATTATAGAACTTGATCATCTCCAACCCCGCAGGAAGTCCTGTATACCAGCTGTATGCCCTTTGCAACCACTCAGGCAGCGTCCACTATGGCCACTACACAGCCCTGTGCCGGTGCCAGACTGGTTGGCATGTCTACAATGACTCTCGGTGAGAATAGCCTCCTATTTACATCCTGCCCCATTCCCACTCAGCCCTGACACCCTCCCCTTCTATGAAGCTCCAGGAGAGCAGAGTGCCAGGTGAAAGGAGAGGTGGAGGTCTTGCCTGATCATTTCCTGGATGCTCTGAGGTTCGGTCTTGTAGGGAGAAGGGAGTAAACAGGAATGACCACAACCCTTTCCCGATCTCCTTTTTTCCTAGTGTCTCCCCTGTCAGTGAAAACCAGGTGGCATCCAGCGAGGGCTACGTGCTGTTCTACCAACTGATGCAGGAGCCACCCCGGTGCCTGTGACACCTCTAAGCTCTGGCACCTGTGAAGCCCTTTAAACACCCTTAAGCCCCAGGCTCCCCGTTTACCTCAGAGACGTCTATTTTTGTGTCTTTTTAATCGGGGAGGGGGGAGGGGGTGGTTGTAGCTCCATTATTTTTTTTATTAAAAAATACCCTTCCACCTGGAGGCTCCCTTGTCTCCCAGCCCCATGTACAAAGCTCACCAAGCCCCTGCCCATGTACAGCCCCCAGACCCTCTGCAATATCACTTTTTGTGAATAAATTTATTAAGAAAAAATGATGTGCTTATTTGTATTTTTGCTTAGGGGGTGATAGAGAACTGAGCCAAATTGGAGTCTTCTTGGGACCCAAGTTCCCTCTCTAACAGGTGGGGGCGCTCTCAGAGCCGAGGGGGAAGGTTTCGGGGATGGTGCTGGACCCGGACCTGTGTCCCCCAGCAGTGAAGGTTATGTACTGGGAGGAAAAGAGGAAAGGCATACTTGAGTGAGGCTGCGTGCAGGCTCTGGGGCGACTGGTTTGGTCGGCGATGGGGGAGTGCCACTGTTGACAAACACTGGGTACGTTGCCGGGCGGCCCTAGCTCCCGTAGGCCCGGTCTGTTGCTAACATCAAGGAGCTGTTTATGGAGCCGCCTCCCCGTGGACTGGCCTTAAGTGTCCCTATCTATTCTCCCTACGACCAAAGCTCCTGCGGCCTTCCCTCTAGGGTTGTCACCCTAGCTGGACCTGGTAAGCTTGTGCTGGGGAACGCTAACTCCAGCATTAAGCGCTCGCCGCCTCGGTCCTGAGGAGGGCAGTGACGGGTACGGCCGCTCACTCCCAGCTCGGCGCTAACACGGTTAACCTCCAGCTCTTACAGCTGCCGTCGCTCCGCCTCTGCCAGTTCAATGTTTTATTGGTGAACGTGATCCGGGGCCTTCCAAGTCCCGCCAATCCAGATGTAGGAGAGGTAGGGTTAGGCGCGTGCCGCGAGAACAGAGTGGACGGAGCGTAGGAGAGACCGAAAAGGCTGGGGGTGGGAGTAGCGGATTTGAAGCACTTGTTGGCCTACAGAGGTGTGGCAAGCAGAGCACCTCAGAACTCAGGCGTACTGCCCGCCGCCCGAGCCCTGCGAGGGCCGATAGCGAGGGTGTGGCCCTTATCTGCACCCAGCAGAGCGCCGGCGGGGTACGGTCTTAGGACCTCGATCTCCTTCTCCCTCATTTTCTCTCATCCCTACCTATTGTGGGTGAGTCCTGGCCCCTGGACGGGGACCTCGCTGTTCCACCAGCCCATCCGTGCACACTTAGTTTCCCCTAAAGCAGTGAGTGGCCGGGATAGAACTCAAAACCGGCGGGGCTTCTGGAGCGCAGGTTGTCCCCGGTCTGCCTGTCCATATCGCCCCCTTTCCCCCAGGTTTCCGCATGGGCCGGACCGTGGTCGTGCTGGGCGGAGGCATCAGCGGCTTGGCCGCCAGTTACCACCTGAGCCGGGCCCCCTGCCCCCCTAAGGTGAGTGCTCCACTTGTGCCAGAGGGAGCTTCATTTAATGCTCTTCCCATTTCCATCAAAAGCTAGATGGATCCTGGCCCTCTGAATATGCCTCTTCCCCTCCCCTCCTGACCTCTCGCCGGCGGCTACAGGCGGTGCTGCAGTGTCTCTCCCTCTTGTCGCCAGGTGGTCCTAGTGGAGAGCAGTGAGCGTCTGGGAGGCTGGATTCGCTCCGTTCGAGGCCCTAATGGTGCTATCTTTGAGCTTGGACCTCGGGGAATTAGGCCAGCGGGAGCCCTAGGGGCCCGGACCTTGCTCCTGGTGAGAGGCTTGTGGGATGTCTAGGAGAGGTTGTGGAGGGGGCTTCCATTGGGGAATAGAGTTTAGGGGAGGAAGTATGTTTGGTGGGTCAGATCTTCCCTTAGTTTCTCCTCTTCTGAGGGCATGTGGAGAGCAGGTTTCTGAGCTTGGCTTGGATTCAGAAGTGCTGCCTGTCCGGGGAGACCACCCAGCTGCCCAGAACAGGTTCCTCTACGTGGGCGGTGCCCTGCATGCCCTACCCACTGGCCTCAGGTAACACCAGCACCTCCGCTCCTTTTACTGTGCCCTCATCCTCATATGCCTTCCATTTCTTTCTTCTTTTCTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTATCGCTCTCGCCCAGGATGGAGTGCAATGGCGCGATCTTGGCTCACTGCAACTTCCGCCTTTCGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGTGCCTACCACCACGTCTGGCTAGTTTTTGTATTTTTAGTAGAGATGGGGTTTCACCATATTGGCCAGGCTGGTCTTGAACTCCTGACCTTGTGATCCGCCCGCCTCGGCCTGCCAAAGTGCTGGGATTACAGGCGTGAGCCACCACGCCCGACCTGCCTTCCATTTCTTCATCTCCCTGTCAGCCTTCCCAGCAAAAGGAAGCCAAATGAGTGGAAATGACCCCAGCGCCTGGAGCTGGGGAGGTATGTCAGGAGCTTCCCCCTCACTATGCCTTTCTCCATGCAGGGGGCTACTCCGCCCTTCACCCCCCTTCTCCAAACCTCTGTTTTGGGCTGGGCTGAGGGAGCTGACCAAGCCCCGGGGCAAAGAGCCTGATGAGACTGTGCACAGTTTTGCCCAGCGCCGCCTTGGACCTGAGGTGACACTTGCCCAGAGGCCCCAAACCTCTTCCCTCCTAAACCAGCTGCAGAGCTCCCTGTTCAAATCTACCACCTAGGGGCTCTTCTGTATCATTTGGGGATGCCCTCTTCTCTTCATACCCCACCCCCTCATAATTCCCAAAACTCATTATTGGGAGTGAAGGCCTTCATTTCCATCCGTCACAGTGGGAATGTCCCCCAACCCAAACCCTATCCCACCCTCATTCCCTACCAAATAGGGGCTGTGGAAATCAGTCAGTGTAGATTATTTTTTCGCTCCTTAGTCCTAGTCTCACCCTTAAGGTGGCGTCTCTAGCCATGGACAGTCTCTGCCGTGGAGTGTTTGCAGGCAACAGCCGTGAGCTCAGCATCAGGTCCTGCTTTCCCAGTCTCTTCCAAGCTGAGCAAACCCATCGTTCCATATTACTGGGCCTGCTGCTGGGGGCAGGTGAGGGGGGATTGATTCAGAGGGTGAAAATATTAAGTACTGCCAAAGTGAGGGAGTGGGGACAAGGGGTGCTATTCAATGATTCTTTTTTTCTTTTTTGAGACGGAGTCTTGCTCTGCTGCCTAGGCTGGAGTGCAGTGGTGCAATCTCAGATCGGCTCGCTGCAACCTCCGCCTCCCAGATTCAAGCAATTCTCCTGCCTCAGCCTCTTAAGTAGCTGGGATTACAAACATGTGCCACCACTCCCAGCTAATCTTTGTATTTTTTTGTAGAGATGCAGTTTCACTATGTTGGCCAGGCTGGTCTCAAACTCCTGACCTCAAGTGATCCACCCGCCTCGGCCTCCTAAAGTGCTGGGATTACAGGTGTGAGCCACT
CGAGGCTCCATCAAAAAAAGTTCAGTAGGTGTAGACTTTCCACTGCAGCGACTGAGCCTAGGGGACTTTGCCAGTGACAAAGCCGGTGAGTCTGGTGGGGAAAGTCCTAAGGAGCCAAAGGAGTGGGGGCACAGCTCTGATTATAGAACTTGATCATCTCCAACCCCGCAGGAAGTCCTGTATACCAGCTGTATGCCCTTTGCAACCACTCAGGCAGCGTCCACTATGGCCACTACACAGCCCTGTGCCGGTGCCAGACTGGTTGGCATGTCTACAATGACTCTCGGTGAGAATAGCCTCCTATTTACATCCTGCCCCATTCCCACTCAGCCCTGACACCCTCCCCTTCTATGAAGCTCCAGGAGAGCAGAGTGCCAGGTGAAAGGAGAGGTGGAGGTCTTGCCTGATCATTTCCTGGATGCTCTGAGGTTCGGTCTTGTAGGGAGAAGGGAGTAAACAGGAATGACCACAACCCTTTCCCGATCTCCTTTTTTCCTAGTGTCTCCCCTGTCAGTGAAAACCAGGTGGCATCCAGCGAGGGCTACGTGCTGTTCTACCAACTGATGCAGGAGCCACCCCGGTGCCTGTGACACCTCTAAGCTCTGGCACCTGTGAAGCCCTTTAAACACCCTTAAGCCCCAGGCTCCCCGTTTACCTCAGAGACGTCTATTTTTGTGTCTTTTTAATCGGGGAGGGGGGAGGGGGTGGTTGTAGCTCCATTATTTTTTTTATTAAAAAATACCCTTCCACCTGGAGGCTCCCTTGTCTCCCAGCCCCATGTACAAAGCTCACCAAGCCCCTGCCCATGTACAGCCCCCAGACCCTCTGCAATATCACTTTTTGTGAATAAATTTATTAAGAAAAAATGATGTGCTTATTTGTATTTTTGCTTAGGGGGTGATAGAGAACTGAGCCAAATTGGAGTCTTCTTGGGACCCAAGTTCCCTCTCTAACAGGTGGGGGCGCTCTCAGAGCCGAGGGGGAAGGTTTCGGGGATGGTGCTGGACCCGGACCTGTGTCCCCCAGCAGTGAAGGTTATGTACTGGGAGGAAAAGAGGAAAGGCATACTTGAGTGAGGCTGCGTGCAGGCTCTGGGGCGACTGGTTTGGTCGGCGATGGGGGAGTGCCACTGTTGACAAACACTGGGTACGTTGCCGGGCGGCCCTAGCTCCCGTAGGCCCGGTCTGTTGCTAACATCAAGGAGCTGTTTATGGAGCCGCCTCCCCGTGGACTGGCCTTAAGTGTCCCTATCTATTCTCCCTACGACCAAAGCTCCTGCGGCCTTCCCTCTAGGGTTGTCACCCTAGCTGGACCTGGTAAGCTTGTGCTGGGGAACGCTAACTCCAGCATTAAGCGCTCGCCGCCTCGGTCCTGAGGAGGGCAGTGACGGGTACGGCCGCTCACTCCCAGCTCGGCGCTAACACGGTTAACCTCCAGCTCTTACAGCTGCCGTCGCTCCGCCTCTGCCAGTTCAATGTTTTATTGGTGAACGTGATCCGGGGCCTTCCAAGTCCCGCCAATCCAGATGTAGGAGAGGTAGGGTTAGGCGCGTGCCGCGAGAACAGAGTGGACGGAGCGTAGGAGAGACCGAAAAGGCTGGGGGTGGGAGTAGCGGATTTGAAGCACTTGTTGGCCTACAGAGGTGTGGCAAGCAGAGCACCTCAGAACTCAGGCGTACTGCCCGCCGCCCGAGCCCTGCGAGGGCCGATAGCGAGGGTGTGGCCCTTATCTGCACCCAGCAGAGCGCCGGCGGGGTACGGTCTTAGGACCTCGATCTCCTTCTCCCTCATTTTCTCTCATCCCTACCTATTGTGGGTGAGTCCTGGCCCCTGGACGGGGACCTCGCTGTTCCACCAGCCCATCCGTGCACACTTAGTTTCCCCTAAAGCAGTGAGTGGCCGGGATAGAACTCAAAACCGGCGGGGCTTCTGGAGCGCAGGTTGTCCCCGGTCTGCCTGTCCATATCGCCCCCTTTCCCCCAGGTTTCCGCATGGGCCGGACCGTGGTCGTGCTGGGCGGAGGCATCAGCGGCTTGGCCGCCAGTTACCCCCTGAGCCGGGCCCCCTGCCCCCCTAAGGTGAGTGCTCCACTTGTGCCAGAGGGAGCTTCATTTAATGCTCTTCCCATTTCCATCAAAAGCTAGATGGATCCTGGCCCTCTGAATATGCCTCTTCCCCTCCCCTCCTGACCTCTCGCCGGCGGCTACAGGCGGTGCTGCAGTGTCTCTCCCTCTTGTCGCCAGGTGGTCCTAGTGGAGAGCAGTGAGCGTCTGGGAGGCTGGATTCGCTCCGTTCGAGGCCCTAATGGTGCTATCTTTGAGCTTGGACCTCGGGGAATTAGGCCAGCGGGAGCCCTAGGGGCCCGGACCTTGCTCCTGGTGAGAGGCTTGTGGGATGTCTAGGAGAGGTTGTGGAGGGGGCTTCCATTGGGGAATAGAGTTTAGGGGAGGAAGTATGTTTGGTGGGTCAGATCTTCCCTTAGTTTCTCCTCTTCTGAGGGCATGTGGAGAGCAGGTTTCTGAGCTTGGCTTGGATTCAGAAGTGCTGCCTGTCCGGGGAGACCACCCAGCTGCCCAGAACAGGTTCCTCTACGTGGGCGGTGCCCTGCATGCCCTACCCACTGGCCTCAGGTAACACCAGCACCTCCGCTCCTTTTACTGTGCCCTCATCCTCATATGCCTTCCATTTCTTTCTTCTTTTCTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTATCGCTCTCGCCCAGGATGGAGTGCAATGGCGCGATCTTGGCTCACTGCAACTTCCGCCTTTCGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGTGCCTACCACCACGTCTGGCTAGTTTTTGTATTTTTAGTAGAGATGGGGTTTCACCATATTGGCCAGGCTGGTCTTGAACTCCTGACCTTGTGATCCGCCCGCCTCGGCCTGCCAAAGTGCTGGGATTACAGGCGTGAGCCACCACGCCCGACCTGCCTTCCATTTCTTCATCTCCCTGTCAGCCTTCCCAGCAAAAGGAAGCCAAATGAGTGGAAATGACCCCAGCGCCTGGAGCTGGGGAGGTATGTCAGGAGCTTCCCCCTCACTATGCCTTTCTCCATGCAGGGGGCTACTCCGCCCTTCACCCCCCTTCTCCAAACCTCTGTTTTGGGCTGGGCTGAGGGAGCTGACCAAGCCCCGGGGCAAAGAGCCTGATGAGACTGTGCACAGTTTTGCCCAGCGCCGCCTTGGACCTGAGGTGACACTTGCCCAGAGGCCCCAAACCTCTTCCCTCCTAAACCAGCTGCAGAGCTCCCTGTTCAAATCTACCACCTAGGGGCTCTTCTGTATCATTTGGGGATGCCCTCTTCTCTTCATACCCCACCCCCTCATAATTCCCAAAACTCATTATTGGGAGTGAAGGCCTTCATTTCCATCCGTCACAGTGGGAATGTCCCCCAACCCAAACCCTATCCCACCCTCATTCCCTACCAAATAGGGGCTGTGGAAATCAGTCAGTGTAGATTATTTTTTCGCTCCTTAGTCCTAGTCTCACCCTTAAGGTGGCGTCTCTAGCCATGGACAGTCTCTGCCGTGGAGTGTTTGCAGGCAACAGCCGTGAGCTCAGCATCAGGTCCTGCTTTCCCAGTCTCTTCCAAGCTGAGCAAACCCATCGTTCCATATTACTGGGCCTGCTGCTGGGGGCAGGTGAGGGGGGATTGATTCAGAGGGTGAAAATATTAAGTACTGCCAAAGTGAGGGAGTGGGGACAAGGGGTGCTATTCAATGATTCTTTTTTTCTTTTTTGAGACGGAGTCTTGCTCTGCTGCCTAGGCTGGAGTGCAGTGGTGCAATCTCAGATCGGCTCGCTGCAACCTCCGCCTCCCAGATTCAAGCAATTCTCCTGCCTCAGCCTCTTAAGTAGCTGGGATTACAAACATGTGCCACCACTCCCAGCTAATCTTTGTATTTTTTTGTAGAGATGCAGTTTCACTATGTTGGCCAGGCTGGTCTCAAACTCCTGACCTCAAGTGATCCACCCGCCTCGGCCTCCTAAAGTGCTGGGATTACAGGTGTGAGCCACT
Task1_train_1985
The variant affects gene PPOX (protoporphyrinogen oxidase), which is on Chromosome 1. Please evaluate whether this mutation is benign or pathogenic and specify the disease if necessary.
Pathogenic; Variegate porphyria
TCTCGGTGAGAATAGCCTCCTATTTACATCCTGCCCCATTCCCACTCAGCCCTGACACCCTCCCCTTCTATGAAGCTCCAGGAGAGCAGAGTGCCAGGTGAAAGGAGAGGTGGAGGTCTTGCCTGATCATTTCCTGGATGCTCTGAGGTTCGGTCTTGTAGGGAGAAGGGAGTAAACAGGAATGACCACAACCCTTTCCCGATCTCCTTTTTTCCTAGTGTCTCCCCTGTCAGTGAAAACCAGGTGGCATCCAGCGAGGGCTACGTGCTGTTCTACCAACTGATGCAGGAGCCACCCCGGTGCCTGTGACACCTCTAAGCTCTGGCACCTGTGAAGCCCTTTAAACACCCTTAAGCCCCAGGCTCCCCGTTTACCTCAGAGACGTCTATTTTTGTGTCTTTTTAATCGGGGAGGGGGGAGGGGGTGGTTGTAGCTCCATTATTTTTTTTATTAAAAAATACCCTTCCACCTGGAGGCTCCCTTGTCTCCCAGCCCCATGTACAAAGCTCACCAAGCCCCTGCCCATGTACAGCCCCCAGACCCTCTGCAATATCACTTTTTGTGAATAAATTTATTAAGAAAAAATGATGTGCTTATTTGTATTTTTGCTTAGGGGGTGATAGAGAACTGAGCCAAATTGGAGTCTTCTTGGGACCCAAGTTCCCTCTCTAACAGGTGGGGGCGCTCTCAGAGCCGAGGGGGAAGGTTTCGGGGATGGTGCTGGACCCGGACCTGTGTCCCCCAGCAGTGAAGGTTATGTACTGGGAGGAAAAGAGGAAAGGCATACTTGAGTGAGGCTGCGTGCAGGCTCTGGGGCGACTGGTTTGGTCGGCGATGGGGGAGTGCCACTGTTGACAAACACTGGGTACGTTGCCGGGCGGCCCTAGCTCCCGTAGGCCCGGTCTGTTGCTAACATCAAGGAGCTGTTTATGGAGCCGCCTCCCCGTGGACTGGCCTTAAGTGTCCCTATCTATTCTCCCTACGACCAAAGCTCCTGCGGCCTTCCCTCTAGGGTTGTCACCCTAGCTGGACCTGGTAAGCTTGTGCTGGGGAACGCTAACTCCAGCATTAAGCGCTCGCCGCCTCGGTCCTGAGGAGGGCAGTGACGGGTACGGCCGCTCACTCCCAGCTCGGCGCTAACACGGTTAACCTCCAGCTCTTACAGCTGCCGTCGCTCCGCCTCTGCCAGTTCAATGTTTTATTGGTGAACGTGATCCGGGGCCTTCCAAGTCCCGCCAATCCAGATGTAGGAGAGGTAGGGTTAGGCGCGTGCCGCGAGAACAGAGTGGACGGAGCGTAGGAGAGACCGAAAAGGCTGGGGGTGGGAGTAGCGGATTTGAAGCACTTGTTGGCCTACAGAGGTGTGGCAAGCAGAGCACCTCAGAACTCAGGCGTACTGCCCGCCGCCCGAGCCCTGCGAGGGCCGATAGCGAGGGTGTGGCCCTTATCTGCACCCAGCAGAGCGCCGGCGGGGTACGGTCTTAGGACCTCGATCTCCTTCTCCCTCATTTTCTCTCATCCCTACCTATTGTGGGTGAGTCCTGGCCCCTGGACGGGGACCTCGCTGTTCCACCAGCCCATCCGTGCACACTTAGTTTCCCCTAAAGCAGTGAGTGGCCGGGATAGAACTCAAAACCGGCGGGGCTTCTGGAGCGCAGGTTGTCCCCGGTCTGCCTGTCCATATCGCCCCCTTTCCCCCAGGTTTCCGCATGGGCCGGACCGTGGTCGTGCTGGGCGGAGGCATCAGCGGCTTGGCCGCCAGTTACCACCTGAGCCGGGCCCCCTGCCCCCCTAAGGTGAGTGCTCCACTTGTGCCAGAGGGAGCTTCATTTAATGCTCTTCCCATTTCCATCAAAAGCTAGATGGATCCTGGCCCTCTGAATATGCCTCTTCCCCTCCCCTCCTGACCTCTCGCCGGCGGCTACAGGCGGTGCTGCAGTGTCTCTCCCTCTTGTCGCCAGGTGGTCCTAGTGGAGAGCAGTGAGCGTCTGGGAGGCTGGATTCGCTCCGTTCGAGGCCCTAATGGTGCTATCTTTGAGCTTGGACCTCGGGGAATTAGGCCAGCGGGAGCCCTAGGGGCCCGGACCTTGCTCCTGGTGAGAGGCTTGTGGGATGTCTAGGAGAGGTTGTGGAGGGGGCTTCCATTGGGGAATAGAGTTTAGGGGAGGAAGTATGTTTGGTGGGTCAGATCTTCCCTTAGTTTCTCCTCTTCTGAGGGCATGTGGAGAGCAGGTTTCTGAGCTTGGCTTGGATTCAGAAGTGCTGCCTGTCCGGGGAGACCACCCAGCTGCCCAGAACAGGTTCCTCTACGTGGGCGGTGCCCTGCATGCCCTACCCACTGGCCTCAGGTAACACCAGCACCTCCGCTCCTTTTACTGTGCCCTCATCCTCATATGCCTTCCATTTCTTTCTTCTTTTCTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTATCGCTCTCGCCCAGGATGGAGTGCAATGGCGCGATCTTGGCTCACTGCAACTTCCGCCTTTCGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGTGCCTACCACCACGTCTGGCTAGTTTTTGTATTTTTAGTAGAGATGGGGTTTCACCATATTGGCCAGGCTGGTCTTGAACTCCTGACCTTGTGATCCGCCCGCCTCGGCCTGCCAAAGTGCTGGGATTACAGGCGTGAGCCACCACGCCCGACCTGCCTTCCATTTCTTCATCTCCCTGTCAGCCTTCCCAGCAAAAGGAAGCCAAATGAGTGGAAATGACCCCAGCGCCTGGAGCTGGGGAGGTATGTCAGGAGCTTCCCCCTCACTATGCCTTTCTCCATGCAGGGGGCTACTCCGCCCTTCACCCCCCTTCTCCAAACCTCTGTTTTGGGCTGGGCTGAGGGAGCTGACCAAGCCCCGGGGCAAAGAGCCTGATGAGACTGTGCACAGTTTTGCCCAGCGCCGCCTTGGACCTGAGGTGACACTTGCCCAGAGGCCCCAAACCTCTTCCCTCCTAAACCAGCTGCAGAGCTCCCTGTTCAAATCTACCACCTAGGGGCTCTTCTGTATCATTTGGGGATGCCCTCTTCTCTTCATACCCCACCCCCTCATAATTCCCAAAACTCATTATTGGGAGTGAAGGCCTTCATTTCCATCCGTCACAGTGGGAATGTCCCCCAACCCAAACCCTATCCCACCCTCATTCCCTACCAAATAGGGGCTGTGGAAATCAGTCAGTGTAGATTATTTTTTCGCTCCTTAGTCCTAGTCTCACCCTTAAGGTGGCGTCTCTAGCCATGGACAGTCTCTGCCGTGGAGTGTTTGCAGGCAACAGCCGTGAGCTCAGCATCAGGTCCTGCTTTCCCAGTCTCTTCCAAGCTGAGCAAACCCATCGTTCCATATTACTGGGCCTGCTGCTGGGGGCAGGTGAGGGGGGATTGATTCAGAGGGTGAAAATATTAAGTACTGCCAAAGTGAGGGAGTGGGGACAAGGGGTGCTATTCAATGATTCTTTTTTTCTTTTTTGAGACGGAGTCTTGCTCTGCTGCCTAGGCTGGAGTGCAGTGGTGCAATCTCAGATCGGCTCGCTGCAACCTCCGCCTCCCAGATTCAAGCAATTCTCCTGCCTCAGCCTCTTAAGTAGCTGGGATTACAAACATGTGCCACCACTCCCAGCTAATCTTTGTATTTTTTTGTAGAGATGCAGTTTCACTATGTTGGCCAGGCTGGTCTCAAACTCCTGACCTCAAGTGATCCACCCGCCTCGGCCTCCTAAAGTGCTGGGATTACAGGTGTGAGCCACTGCATCCAGCCTCAATGATTCTTCTTTGCTTCCTCTGCAGGGCGGACCCCACAGCCAGACTCAGCACTCATTCGCCAGGCCTTGGCTGAGCGCTGGAGCCAGTGGTCACTTCGTGGAGGTCTAGAGATGTTGCCTCAGGCCCTTGAAACCCACCTGACTAGTAGGGGGGTCAGTGTTCTCAGAGGCCAGCCGGTCTGTGGGCTCAGCCTCCAGGCAGAAGGGCGCTGGAAGGTAGGGGAACCCCTGGAGTGTAATGAACCTGTCAGTGTTTCCATCTTTATC
TCTCGGTGAGAATAGCCTCCTATTTACATCCTGCCCCATTCCCACTCAGCCCTGACACCCTCCCCTTCTATGAAGCTCCAGGAGAGCAGAGTGCCAGGTGAAAGGAGAGGTGGAGGTCTTGCCTGATCATTTCCTGGATGCTCTGAGGTTCGGTCTTGTAGGGAGAAGGGAGTAAACAGGAATGACCACAACCCTTTCCCGATCTCCTTTTTTCCTAGTGTCTCCCCTGTCAGTGAAAACCAGGTGGCATCCAGCGAGGGCTACGTGCTGTTCTACCAACTGATGCAGGAGCCACCCCGGTGCCTGTGACACCTCTAAGCTCTGGCACCTGTGAAGCCCTTTAAACACCCTTAAGCCCCAGGCTCCCCGTTTACCTCAGAGACGTCTATTTTTGTGTCTTTTTAATCGGGGAGGGGGGAGGGGGTGGTTGTAGCTCCATTATTTTTTTTATTAAAAAATACCCTTCCACCTGGAGGCTCCCTTGTCTCCCAGCCCCATGTACAAAGCTCACCAAGCCCCTGCCCATGTACAGCCCCCAGACCCTCTGCAATATCACTTTTTGTGAATAAATTTATTAAGAAAAAATGATGTGCTTATTTGTATTTTTGCTTAGGGGGTGATAGAGAACTGAGCCAAATTGGAGTCTTCTTGGGACCCAAGTTCCCTCTCTAACAGGTGGGGGCGCTCTCAGAGCCGAGGGGGAAGGTTTCGGGGATGGTGCTGGACCCGGACCTGTGTCCCCCAGCAGTGAAGGTTATGTACTGGGAGGAAAAGAGGAAAGGCATACTTGAGTGAGGCTGCGTGCAGGCTCTGGGGCGACTGGTTTGGTCGGCGATGGGGGAGTGCCACTGTTGACAAACACTGGGTACGTTGCCGGGCGGCCCTAGCTCCCGTAGGCCCGGTCTGTTGCTAACATCAAGGAGCTGTTTATGGAGCCGCCTCCCCGTGGACTGGCCTTAAGTGTCCCTATCTATTCTCCCTACGACCAAAGCTCCTGCGGCCTTCCCTCTAGGGTTGTCACCCTAGCTGGACCTGGTAAGCTTGTGCTGGGGAACGCTAACTCCAGCATTAAGCGCTCGCCGCCTCGGTCCTGAGGAGGGCAGTGACGGGTACGGCCGCTCACTCCCAGCTCGGCGCTAACACGGTTAACCTCCAGCTCTTACAGCTGCCGTCGCTCCGCCTCTGCCAGTTCAATGTTTTATTGGTGAACGTGATCCGGGGCCTTCCAAGTCCCGCCAATCCAGATGTAGGAGAGGTAGGGTTAGGCGCGTGCCGCGAGAACAGAGTGGACGGAGCGTAGGAGAGACCGAAAAGGCTGGGGGTGGGAGTAGCGGATTTGAAGCACTTGTTGGCCTACAGAGGTGTGGCAAGCAGAGCACCTCAGAACTCAGGCGTACTGCCCGCCGCCCGAGCCCTGCGAGGGCCGATAGCGAGGGTGTGGCCCTTATCTGCACCCAGCAGAGCGCCGGCGGGGTACGGTCTTAGGACCTCGATCTCCTTCTCCCTCATTTTCTCTCATCCCTACCTATTGTGGGTGAGTCCTGGCCCCTGGACGGGGACCTCGCTGTTCCACCAGCCCATCCGTGCACACTTAGTTTCCCCTAAAGCAGTGAGTGGCCGGGATAGAACTCAAAACCGGCGGGGCTTCTGGAGCGCAGGTTGTCCCCGGTCTGCCTGTCCATATCGCCCCCTTTCCCCCAGGTTTCCGCATGGGCCGGACCGTGGTCGTGCTGGGCGGAGGCATCAGCGGCTTGGCCGCCAGTTACCACCTGAGCCGGGCCCCCTGCCCCCCTAAGGTGAGTGCTCCACTTGTGCCAGAGGGAGCTTCATTTAATGCTCTTCCCATTTCCATCAAAAGCTAGATGGATCCTGGCCCTCTGAATATGCCTCTTCCCCTCCCCTCCTGACCTCTCGCCGGCGGCTACAGGCGGTGCTGCAGTGTCTCTCCCTCTTGTCGCCAGGTGGTCCTAGTGGAGAGCAGTGAGCGTCTGGGAGGCTGGATTCGCTCCGTTCGAGGCCCTAATGGTGCTATCTTTGAGCTTGGACCTTGGGGAATTAGGCCAGCGGGAGCCCTAGGGGCCCGGACCTTGCTCCTGGTGAGAGGCTTGTGGGATGTCTAGGAGAGGTTGTGGAGGGGGCTTCCATTGGGGAATAGAGTTTAGGGGAGGAAGTATGTTTGGTGGGTCAGATCTTCCCTTAGTTTCTCCTCTTCTGAGGGCATGTGGAGAGCAGGTTTCTGAGCTTGGCTTGGATTCAGAAGTGCTGCCTGTCCGGGGAGACCACCCAGCTGCCCAGAACAGGTTCCTCTACGTGGGCGGTGCCCTGCATGCCCTACCCACTGGCCTCAGGTAACACCAGCACCTCCGCTCCTTTTACTGTGCCCTCATCCTCATATGCCTTCCATTTCTTTCTTCTTTTCTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTATCGCTCTCGCCCAGGATGGAGTGCAATGGCGCGATCTTGGCTCACTGCAACTTCCGCCTTTCGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGTGCCTACCACCACGTCTGGCTAGTTTTTGTATTTTTAGTAGAGATGGGGTTTCACCATATTGGCCAGGCTGGTCTTGAACTCCTGACCTTGTGATCCGCCCGCCTCGGCCTGCCAAAGTGCTGGGATTACAGGCGTGAGCCACCACGCCCGACCTGCCTTCCATTTCTTCATCTCCCTGTCAGCCTTCCCAGCAAAAGGAAGCCAAATGAGTGGAAATGACCCCAGCGCCTGGAGCTGGGGAGGTATGTCAGGAGCTTCCCCCTCACTATGCCTTTCTCCATGCAGGGGGCTACTCCGCCCTTCACCCCCCTTCTCCAAACCTCTGTTTTGGGCTGGGCTGAGGGAGCTGACCAAGCCCCGGGGCAAAGAGCCTGATGAGACTGTGCACAGTTTTGCCCAGCGCCGCCTTGGACCTGAGGTGACACTTGCCCAGAGGCCCCAAACCTCTTCCCTCCTAAACCAGCTGCAGAGCTCCCTGTTCAAATCTACCACCTAGGGGCTCTTCTGTATCATTTGGGGATGCCCTCTTCTCTTCATACCCCACCCCCTCATAATTCCCAAAACTCATTATTGGGAGTGAAGGCCTTCATTTCCATCCGTCACAGTGGGAATGTCCCCCAACCCAAACCCTATCCCACCCTCATTCCCTACCAAATAGGGGCTGTGGAAATCAGTCAGTGTAGATTATTTTTTCGCTCCTTAGTCCTAGTCTCACCCTTAAGGTGGCGTCTCTAGCCATGGACAGTCTCTGCCGTGGAGTGTTTGCAGGCAACAGCCGTGAGCTCAGCATCAGGTCCTGCTTTCCCAGTCTCTTCCAAGCTGAGCAAACCCATCGTTCCATATTACTGGGCCTGCTGCTGGGGGCAGGTGAGGGGGGATTGATTCAGAGGGTGAAAATATTAAGTACTGCCAAAGTGAGGGAGTGGGGACAAGGGGTGCTATTCAATGATTCTTTTTTTCTTTTTTGAGACGGAGTCTTGCTCTGCTGCCTAGGCTGGAGTGCAGTGGTGCAATCTCAGATCGGCTCGCTGCAACCTCCGCCTCCCAGATTCAAGCAATTCTCCTGCCTCAGCCTCTTAAGTAGCTGGGATTACAAACATGTGCCACCACTCCCAGCTAATCTTTGTATTTTTTTGTAGAGATGCAGTTTCACTATGTTGGCCAGGCTGGTCTCAAACTCCTGACCTCAAGTGATCCACCCGCCTCGGCCTCCTAAAGTGCTGGGATTACAGGTGTGAGCCACTGCATCCAGCCTCAATGATTCTTCTTTGCTTCCTCTGCAGGGCGGACCCCACAGCCAGACTCAGCACTCATTCGCCAGGCCTTGGCTGAGCGCTGGAGCCAGTGGTCACTTCGTGGAGGTCTAGAGATGTTGCCTCAGGCCCTTGAAACCCACCTGACTAGTAGGGGGGTCAGTGTTCTCAGAGGCCAGCCGGTCTGTGGGCTCAGCCTCCAGGCAGAAGGGCGCTGGAAGGTAGGGGAACCCCTGGAGTGTAATGAACCTGTCAGTGTTTCCATCTTTATC
Task1_train_1986
Gene PPOX (protoporphyrinogen oxidase), found on Chromosome 1, is impacted by this variant. What is the biological outcome — benign or pathogenic?
Pathogenic; Variegate porphyria
GTGCCTGTGACACCTCTAAGCTCTGGCACCTGTGAAGCCCTTTAAACACCCTTAAGCCCCAGGCTCCCCGTTTACCTCAGAGACGTCTATTTTTGTGTCTTTTTAATCGGGGAGGGGGGAGGGGGTGGTTGTAGCTCCATTATTTTTTTTATTAAAAAATACCCTTCCACCTGGAGGCTCCCTTGTCTCCCAGCCCCATGTACAAAGCTCACCAAGCCCCTGCCCATGTACAGCCCCCAGACCCTCTGCAATATCACTTTTTGTGAATAAATTTATTAAGAAAAAATGATGTGCTTATTTGTATTTTTGCTTAGGGGGTGATAGAGAACTGAGCCAAATTGGAGTCTTCTTGGGACCCAAGTTCCCTCTCTAACAGGTGGGGGCGCTCTCAGAGCCGAGGGGGAAGGTTTCGGGGATGGTGCTGGACCCGGACCTGTGTCCCCCAGCAGTGAAGGTTATGTACTGGGAGGAAAAGAGGAAAGGCATACTTGAGTGAGGCTGCGTGCAGGCTCTGGGGCGACTGGTTTGGTCGGCGATGGGGGAGTGCCACTGTTGACAAACACTGGGTACGTTGCCGGGCGGCCCTAGCTCCCGTAGGCCCGGTCTGTTGCTAACATCAAGGAGCTGTTTATGGAGCCGCCTCCCCGTGGACTGGCCTTAAGTGTCCCTATCTATTCTCCCTACGACCAAAGCTCCTGCGGCCTTCCCTCTAGGGTTGTCACCCTAGCTGGACCTGGTAAGCTTGTGCTGGGGAACGCTAACTCCAGCATTAAGCGCTCGCCGCCTCGGTCCTGAGGAGGGCAGTGACGGGTACGGCCGCTCACTCCCAGCTCGGCGCTAACACGGTTAACCTCCAGCTCTTACAGCTGCCGTCGCTCCGCCTCTGCCAGTTCAATGTTTTATTGGTGAACGTGATCCGGGGCCTTCCAAGTCCCGCCAATCCAGATGTAGGAGAGGTAGGGTTAGGCGCGTGCCGCGAGAACAGAGTGGACGGAGCGTAGGAGAGACCGAAAAGGCTGGGGGTGGGAGTAGCGGATTTGAAGCACTTGTTGGCCTACAGAGGTGTGGCAAGCAGAGCACCTCAGAACTCAGGCGTACTGCCCGCCGCCCGAGCCCTGCGAGGGCCGATAGCGAGGGTGTGGCCCTTATCTGCACCCAGCAGAGCGCCGGCGGGGTACGGTCTTAGGACCTCGATCTCCTTCTCCCTCATTTTCTCTCATCCCTACCTATTGTGGGTGAGTCCTGGCCCCTGGACGGGGACCTCGCTGTTCCACCAGCCCATCCGTGCACACTTAGTTTCCCCTAAAGCAGTGAGTGGCCGGGATAGAACTCAAAACCGGCGGGGCTTCTGGAGCGCAGGTTGTCCCCGGTCTGCCTGTCCATATCGCCCCCTTTCCCCCAGGTTTCCGCATGGGCCGGACCGTGGTCGTGCTGGGCGGAGGCATCAGCGGCTTGGCCGCCAGTTACCACCTGAGCCGGGCCCCCTGCCCCCCTAAGGTGAGTGCTCCACTTGTGCCAGAGGGAGCTTCATTTAATGCTCTTCCCATTTCCATCAAAAGCTAGATGGATCCTGGCCCTCTGAATATGCCTCTTCCCCTCCCCTCCTGACCTCTCGCCGGCGGCTACAGGCGGTGCTGCAGTGTCTCTCCCTCTTGTCGCCAGGTGGTCCTAGTGGAGAGCAGTGAGCGTCTGGGAGGCTGGATTCGCTCCGTTCGAGGCCCTAATGGTGCTATCTTTGAGCTTGGACCTCGGGGAATTAGGCCAGCGGGAGCCCTAGGGGCCCGGACCTTGCTCCTGGTGAGAGGCTTGTGGGATGTCTAGGAGAGGTTGTGGAGGGGGCTTCCATTGGGGAATAGAGTTTAGGGGAGGAAGTATGTTTGGTGGGTCAGATCTTCCCTTAGTTTCTCCTCTTCTGAGGGCATGTGGAGAGCAGGTTTCTGAGCTTGGCTTGGATTCAGAAGTGCTGCCTGTCCGGGGAGACCACCCAGCTGCCCAGAACAGGTTCCTCTACGTGGGCGGTGCCCTGCATGCCCTACCCACTGGCCTCAGGTAACACCAGCACCTCCGCTCCTTTTACTGTGCCCTCATCCTCATATGCCTTCCATTTCTTTCTTCTTTTCTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTATCGCTCTCGCCCAGGATGGAGTGCAATGGCGCGATCTTGGCTCACTGCAACTTCCGCCTTTCGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGTGCCTACCACCACGTCTGGCTAGTTTTTGTATTTTTAGTAGAGATGGGGTTTCACCATATTGGCCAGGCTGGTCTTGAACTCCTGACCTTGTGATCCGCCCGCCTCGGCCTGCCAAAGTGCTGGGATTACAGGCGTGAGCCACCACGCCCGACCTGCCTTCCATTTCTTCATCTCCCTGTCAGCCTTCCCAGCAAAAGGAAGCCAAATGAGTGGAAATGACCCCAGCGCCTGGAGCTGGGGAGGTATGTCAGGAGCTTCCCCCTCACTATGCCTTTCTCCATGCAGGGGGCTACTCCGCCCTTCACCCCCCTTCTCCAAACCTCTGTTTTGGGCTGGGCTGAGGGAGCTGACCAAGCCCCGGGGCAAAGAGCCTGATGAGACTGTGCACAGTTTTGCCCAGCGCCGCCTTGGACCTGAGGTGACACTTGCCCAGAGGCCCCAAACCTCTTCCCTCCTAAACCAGCTGCAGAGCTCCCTGTTCAAATCTACCACCTAGGGGCTCTTCTGTATCATTTGGGGATGCCCTCTTCTCTTCATACCCCACCCCCTCATAATTCCCAAAACTCATTATTGGGAGTGAAGGCCTTCATTTCCATCCGTCACAGTGGGAATGTCCCCCAACCCAAACCCTATCCCACCCTCATTCCCTACCAAATAGGGGCTGTGGAAATCAGTCAGTGTAGATTATTTTTTCGCTCCTTAGTCCTAGTCTCACCCTTAAGGTGGCGTCTCTAGCCATGGACAGTCTCTGCCGTGGAGTGTTTGCAGGCAACAGCCGTGAGCTCAGCATCAGGTCCTGCTTTCCCAGTCTCTTCCAAGCTGAGCAAACCCATCGTTCCATATTACTGGGCCTGCTGCTGGGGGCAGGTGAGGGGGGATTGATTCAGAGGGTGAAAATATTAAGTACTGCCAAAGTGAGGGAGTGGGGACAAGGGGTGCTATTCAATGATTCTTTTTTTCTTTTTTGAGACGGAGTCTTGCTCTGCTGCCTAGGCTGGAGTGCAGTGGTGCAATCTCAGATCGGCTCGCTGCAACCTCCGCCTCCCAGATTCAAGCAATTCTCCTGCCTCAGCCTCTTAAGTAGCTGGGATTACAAACATGTGCCACCACTCCCAGCTAATCTTTGTATTTTTTTGTAGAGATGCAGTTTCACTATGTTGGCCAGGCTGGTCTCAAACTCCTGACCTCAAGTGATCCACCCGCCTCGGCCTCCTAAAGTGCTGGGATTACAGGTGTGAGCCACTGCATCCAGCCTCAATGATTCTTCTTTGCTTCCTCTGCAGGGCGGACCCCACAGCCAGACTCAGCACTCATTCGCCAGGCCTTGGCTGAGCGCTGGAGCCAGTGGTCACTTCGTGGAGGTCTAGAGATGTTGCCTCAGGCCCTTGAAACCCACCTGACTAGTAGGGGGGTCAGTGTTCTCAGAGGCCAGCCGGTCTGTGGGCTCAGCCTCCAGGCAGAAGGGCGCTGGAAGGTAGGGGAACCCCTGGAGTGTAATGAACCTGTCAGTGTTTCCATCTTTATCCAAGTGGCTTAACTAGGCCAGGGCCGATAGGACTGGAGTTCCTCATTGTTTTTGTGCCTTAGAAGCTACTTAGACATGGGCTACCCCAGAATCCTAGGCCCTATTTGTGAACCTTCCTCAAAGAGCCTATGCAAGTCTGTGGATAGAAGTAGTACTTATAAGTGGCTTAGAGATAGGGGAAAGAACCCAGCTTCACTGAACATTTCAGAACAGCCACACTGGCCTGTCTGGTCCACTTCCTGGAGTACACAGAGGAATGATTTTTTGTGAAGTCTACATAGTCACCCAATCTCTTCATC
GTGCCTGTGACACCTCTAAGCTCTGGCACCTGTGAAGCCCTTTAAACACCCTTAAGCCCCAGGCTCCCCGTTTACCTCAGAGACGTCTATTTTTGTGTCTTTTTAATCGGGGAGGGGGGAGGGGGTGGTTGTAGCTCCATTATTTTTTTTATTAAAAAATACCCTTCCACCTGGAGGCTCCCTTGTCTCCCAGCCCCATGTACAAAGCTCACCAAGCCCCTGCCCATGTACAGCCCCCAGACCCTCTGCAATATCACTTTTTGTGAATAAATTTATTAAGAAAAAATGATGTGCTTATTTGTATTTTTGCTTAGGGGGTGATAGAGAACTGAGCCAAATTGGAGTCTTCTTGGGACCCAAGTTCCCTCTCTAACAGGTGGGGGCGCTCTCAGAGCCGAGGGGGAAGGTTTCGGGGATGGTGCTGGACCCGGACCTGTGTCCCCCAGCAGTGAAGGTTATGTACTGGGAGGAAAAGAGGAAAGGCATACTTGAGTGAGGCTGCGTGCAGGCTCTGGGGCGACTGGTTTGGTCGGCGATGGGGGAGTGCCACTGTTGACAAACACTGGGTACGTTGCCGGGCGGCCCTAGCTCCCGTAGGCCCGGTCTGTTGCTAACATCAAGGAGCTGTTTATGGAGCCGCCTCCCCGTGGACTGGCCTTAAGTGTCCCTATCTATTCTCCCTACGACCAAAGCTCCTGCGGCCTTCCCTCTAGGGTTGTCACCCTAGCTGGACCTGGTAAGCTTGTGCTGGGGAACGCTAACTCCAGCATTAAGCGCTCGCCGCCTCGGTCCTGAGGAGGGCAGTGACGGGTACGGCCGCTCACTCCCAGCTCGGCGCTAACACGGTTAACCTCCAGCTCTTACAGCTGCCGTCGCTCCGCCTCTGCCAGTTCAATGTTTTATTGGTGAACGTGATCCGGGGCCTTCCAAGTCCCGCCAATCCAGATGTAGGAGAGGTAGGGTTAGGCGCGTGCCGCGAGAACAGAGTGGACGGAGCGTAGGAGAGACCGAAAAGGCTGGGGGTGGGAGTAGCGGATTTGAAGCACTTGTTGGCCTACAGAGGTGTGGCAAGCAGAGCACCTCAGAACTCAGGCGTACTGCCCGCCGCCCGAGCCCTGCGAGGGCCGATAGCGAGGGTGTGGCCCTTATCTGCACCCAGCAGAGCGCCGGCGGGGTACGGTCTTAGGACCTCGATCTCCTTCTCCCTCATTTTCTCTCATCCCTACCTATTGTGGGTGAGTCCTGGCCCCTGGACGGGGACCTCGCTGTTCCACCAGCCCATCCGTGCACACTTAGTTTCCCCTAAAGCAGTGAGTGGCCGGGATAGAACTCAAAACCGGCGGGGCTTCTGGAGCGCAGGTTGTCCCCGGTCTGCCTGTCCATATCGCCCCCTTTCCCCCAGGTTTCCGCATGGGCCGGACCGTGGTCGTGCTGGGCGGAGGCATCAGCGGCTTGGCCGCCAGTTACCACCTGAGCCGGGCCCCCTGCCCCCCTAAGGTGAGTGCTCCACTTGTGCCAGAGGGAGCTTCATTTAATGCTCTTCCCATTTCCATCAAAAGCTAGATGGATCCTGGCCCTCTGAATATGCCTCTTCCCCTCCCCTCCTGACCTCTCGCCGGCGGCTACAGGCGGTGCTGCAGTGTCTCTCCCTCTTGTCGCCAGGTGGTCCTAGTGGAGAGCAGTGAGCGTCTGGGAGGCTGGATTCGCTCCGTTCGAGGCCCTAATGGTGCTATCTTTGAGCTTGGACCTCGGGGAATTAGGCCAGCGGGAGCCCTAGGGGCCCGGACCTTGCTCCTGGTGAGAGGCTTGTGGGATGTCTAGGAGAGGTTGTGGAGGGGGCTTCCATTGGGGAATAGAGTTTAGGGGAGGAAGTATGTTTGGTGGGTCAGATCTTCCCTTAGTTTCTCCTCTTCTGAGGGCATGTGGAGAGCAGGTTTCTGAGCTTGGCTTGGATTCAGAAGTGCTGCCTGTCCGGGGAGACCACCCAGCTGCCCAGAACAGGTTCCTCTACGTGGGCGGTGCCCTGCATGCCCTACCCACTGGCCTCACGTAACACCAGCACCTCCGCTCCTTTTACTGTGCCCTCATCCTCATATGCCTTCCATTTCTTTCTTCTTTTCTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTATCGCTCTCGCCCAGGATGGAGTGCAATGGCGCGATCTTGGCTCACTGCAACTTCCGCCTTTCGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGTGCCTACCACCACGTCTGGCTAGTTTTTGTATTTTTAGTAGAGATGGGGTTTCACCATATTGGCCAGGCTGGTCTTGAACTCCTGACCTTGTGATCCGCCCGCCTCGGCCTGCCAAAGTGCTGGGATTACAGGCGTGAGCCACCACGCCCGACCTGCCTTCCATTTCTTCATCTCCCTGTCAGCCTTCCCAGCAAAAGGAAGCCAAATGAGTGGAAATGACCCCAGCGCCTGGAGCTGGGGAGGTATGTCAGGAGCTTCCCCCTCACTATGCCTTTCTCCATGCAGGGGGCTACTCCGCCCTTCACCCCCCTTCTCCAAACCTCTGTTTTGGGCTGGGCTGAGGGAGCTGACCAAGCCCCGGGGCAAAGAGCCTGATGAGACTGTGCACAGTTTTGCCCAGCGCCGCCTTGGACCTGAGGTGACACTTGCCCAGAGGCCCCAAACCTCTTCCCTCCTAAACCAGCTGCAGAGCTCCCTGTTCAAATCTACCACCTAGGGGCTCTTCTGTATCATTTGGGGATGCCCTCTTCTCTTCATACCCCACCCCCTCATAATTCCCAAAACTCATTATTGGGAGTGAAGGCCTTCATTTCCATCCGTCACAGTGGGAATGTCCCCCAACCCAAACCCTATCCCACCCTCATTCCCTACCAAATAGGGGCTGTGGAAATCAGTCAGTGTAGATTATTTTTTCGCTCCTTAGTCCTAGTCTCACCCTTAAGGTGGCGTCTCTAGCCATGGACAGTCTCTGCCGTGGAGTGTTTGCAGGCAACAGCCGTGAGCTCAGCATCAGGTCCTGCTTTCCCAGTCTCTTCCAAGCTGAGCAAACCCATCGTTCCATATTACTGGGCCTGCTGCTGGGGGCAGGTGAGGGGGGATTGATTCAGAGGGTGAAAATATTAAGTACTGCCAAAGTGAGGGAGTGGGGACAAGGGGTGCTATTCAATGATTCTTTTTTTCTTTTTTGAGACGGAGTCTTGCTCTGCTGCCTAGGCTGGAGTGCAGTGGTGCAATCTCAGATCGGCTCGCTGCAACCTCCGCCTCCCAGATTCAAGCAATTCTCCTGCCTCAGCCTCTTAAGTAGCTGGGATTACAAACATGTGCCACCACTCCCAGCTAATCTTTGTATTTTTTTGTAGAGATGCAGTTTCACTATGTTGGCCAGGCTGGTCTCAAACTCCTGACCTCAAGTGATCCACCCGCCTCGGCCTCCTAAAGTGCTGGGATTACAGGTGTGAGCCACTGCATCCAGCCTCAATGATTCTTCTTTGCTTCCTCTGCAGGGCGGACCCCACAGCCAGACTCAGCACTCATTCGCCAGGCCTTGGCTGAGCGCTGGAGCCAGTGGTCACTTCGTGGAGGTCTAGAGATGTTGCCTCAGGCCCTTGAAACCCACCTGACTAGTAGGGGGGTCAGTGTTCTCAGAGGCCAGCCGGTCTGTGGGCTCAGCCTCCAGGCAGAAGGGCGCTGGAAGGTAGGGGAACCCCTGGAGTGTAATGAACCTGTCAGTGTTTCCATCTTTATCCAAGTGGCTTAACTAGGCCAGGGCCGATAGGACTGGAGTTCCTCATTGTTTTTGTGCCTTAGAAGCTACTTAGACATGGGCTACCCCAGAATCCTAGGCCCTATTTGTGAACCTTCCTCAAAGAGCCTATGCAAGTCTGTGGATAGAAGTAGTACTTATAAGTGGCTTAGAGATAGGGGAAAGAACCCAGCTTCACTGAACATTTCAGAACAGCCACACTGGCCTGTCTGGTCCACTTCCTGGAGTACACAGAGGAATGATTTTTTGTGAAGTCTACATAGTCACCCAATCTCTTCATC
Task1_train_1987
Gene PPOX (protoporphyrinogen oxidase) on Chromosome 1 is impacted by this variant. Evaluate whether it is clinically benign or pathogenic and name the disorder if relevant.
Pathogenic; not provided
CTGTTTATGGAGCCGCCTCCCCGTGGACTGGCCTTAAGTGTCCCTATCTATTCTCCCTACGACCAAAGCTCCTGCGGCCTTCCCTCTAGGGTTGTCACCCTAGCTGGACCTGGTAAGCTTGTGCTGGGGAACGCTAACTCCAGCATTAAGCGCTCGCCGCCTCGGTCCTGAGGAGGGCAGTGACGGGTACGGCCGCTCACTCCCAGCTCGGCGCTAACACGGTTAACCTCCAGCTCTTACAGCTGCCGTCGCTCCGCCTCTGCCAGTTCAATGTTTTATTGGTGAACGTGATCCGGGGCCTTCCAAGTCCCGCCAATCCAGATGTAGGAGAGGTAGGGTTAGGCGCGTGCCGCGAGAACAGAGTGGACGGAGCGTAGGAGAGACCGAAAAGGCTGGGGGTGGGAGTAGCGGATTTGAAGCACTTGTTGGCCTACAGAGGTGTGGCAAGCAGAGCACCTCAGAACTCAGGCGTACTGCCCGCCGCCCGAGCCCTGCGAGGGCCGATAGCGAGGGTGTGGCCCTTATCTGCACCCAGCAGAGCGCCGGCGGGGTACGGTCTTAGGACCTCGATCTCCTTCTCCCTCATTTTCTCTCATCCCTACCTATTGTGGGTGAGTCCTGGCCCCTGGACGGGGACCTCGCTGTTCCACCAGCCCATCCGTGCACACTTAGTTTCCCCTAAAGCAGTGAGTGGCCGGGATAGAACTCAAAACCGGCGGGGCTTCTGGAGCGCAGGTTGTCCCCGGTCTGCCTGTCCATATCGCCCCCTTTCCCCCAGGTTTCCGCATGGGCCGGACCGTGGTCGTGCTGGGCGGAGGCATCAGCGGCTTGGCCGCCAGTTACCACCTGAGCCGGGCCCCCTGCCCCCCTAAGGTGAGTGCTCCACTTGTGCCAGAGGGAGCTTCATTTAATGCTCTTCCCATTTCCATCAAAAGCTAGATGGATCCTGGCCCTCTGAATATGCCTCTTCCCCTCCCCTCCTGACCTCTCGCCGGCGGCTACAGGCGGTGCTGCAGTGTCTCTCCCTCTTGTCGCCAGGTGGTCCTAGTGGAGAGCAGTGAGCGTCTGGGAGGCTGGATTCGCTCCGTTCGAGGCCCTAATGGTGCTATCTTTGAGCTTGGACCTCGGGGAATTAGGCCAGCGGGAGCCCTAGGGGCCCGGACCTTGCTCCTGGTGAGAGGCTTGTGGGATGTCTAGGAGAGGTTGTGGAGGGGGCTTCCATTGGGGAATAGAGTTTAGGGGAGGAAGTATGTTTGGTGGGTCAGATCTTCCCTTAGTTTCTCCTCTTCTGAGGGCATGTGGAGAGCAGGTTTCTGAGCTTGGCTTGGATTCAGAAGTGCTGCCTGTCCGGGGAGACCACCCAGCTGCCCAGAACAGGTTCCTCTACGTGGGCGGTGCCCTGCATGCCCTACCCACTGGCCTCAGGTAACACCAGCACCTCCGCTCCTTTTACTGTGCCCTCATCCTCATATGCCTTCCATTTCTTTCTTCTTTTCTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTATCGCTCTCGCCCAGGATGGAGTGCAATGGCGCGATCTTGGCTCACTGCAACTTCCGCCTTTCGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGTGCCTACCACCACGTCTGGCTAGTTTTTGTATTTTTAGTAGAGATGGGGTTTCACCATATTGGCCAGGCTGGTCTTGAACTCCTGACCTTGTGATCCGCCCGCCTCGGCCTGCCAAAGTGCTGGGATTACAGGCGTGAGCCACCACGCCCGACCTGCCTTCCATTTCTTCATCTCCCTGTCAGCCTTCCCAGCAAAAGGAAGCCAAATGAGTGGAAATGACCCCAGCGCCTGGAGCTGGGGAGGTATGTCAGGAGCTTCCCCCTCACTATGCCTTTCTCCATGCAGGGGGCTACTCCGCCCTTCACCCCCCTTCTCCAAACCTCTGTTTTGGGCTGGGCTGAGGGAGCTGACCAAGCCCCGGGGCAAAGAGCCTGATGAGACTGTGCACAGTTTTGCCCAGCGCCGCCTTGGACCTGAGGTGACACTTGCCCAGAGGCCCCAAACCTCTTCCCTCCTAAACCAGCTGCAGAGCTCCCTGTTCAAATCTACCACCTAGGGGCTCTTCTGTATCATTTGGGGATGCCCTCTTCTCTTCATACCCCACCCCCTCATAATTCCCAAAACTCATTATTGGGAGTGAAGGCCTTCATTTCCATCCGTCACAGTGGGAATGTCCCCCAACCCAAACCCTATCCCACCCTCATTCCCTACCAAATAGGGGCTGTGGAAATCAGTCAGTGTAGATTATTTTTTCGCTCCTTAGTCCTAGTCTCACCCTTAAGGTGGCGTCTCTAGCCATGGACAGTCTCTGCCGTGGAGTGTTTGCAGGCAACAGCCGTGAGCTCAGCATCAGGTCCTGCTTTCCCAGTCTCTTCCAAGCTGAGCAAACCCATCGTTCCATATTACTGGGCCTGCTGCTGGGGGCAGGTGAGGGGGGATTGATTCAGAGGGTGAAAATATTAAGTACTGCCAAAGTGAGGGAGTGGGGACAAGGGGTGCTATTCAATGATTCTTTTTTTCTTTTTTGAGACGGAGTCTTGCTCTGCTGCCTAGGCTGGAGTGCAGTGGTGCAATCTCAGATCGGCTCGCTGCAACCTCCGCCTCCCAGATTCAAGCAATTCTCCTGCCTCAGCCTCTTAAGTAGCTGGGATTACAAACATGTGCCACCACTCCCAGCTAATCTTTGTATTTTTTTGTAGAGATGCAGTTTCACTATGTTGGCCAGGCTGGTCTCAAACTCCTGACCTCAAGTGATCCACCCGCCTCGGCCTCCTAAAGTGCTGGGATTACAGGTGTGAGCCACTGCATCCAGCCTCAATGATTCTTCTTTGCTTCCTCTGCAGGGCGGACCCCACAGCCAGACTCAGCACTCATTCGCCAGGCCTTGGCTGAGCGCTGGAGCCAGTGGTCACTTCGTGGAGGTCTAGAGATGTTGCCTCAGGCCCTTGAAACCCACCTGACTAGTAGGGGGGTCAGTGTTCTCAGAGGCCAGCCGGTCTGTGGGCTCAGCCTCCAGGCAGAAGGGCGCTGGAAGGTAGGGGAACCCCTGGAGTGTAATGAACCTGTCAGTGTTTCCATCTTTATCCAAGTGGCTTAACTAGGCCAGGGCCGATAGGACTGGAGTTCCTCATTGTTTTTGTGCCTTAGAAGCTACTTAGACATGGGCTACCCCAGAATCCTAGGCCCTATTTGTGAACCTTCCTCAAAGAGCCTATGCAAGTCTGTGGATAGAAGTAGTACTTATAAGTGGCTTAGAGATAGGGGAAAGAACCCAGCTTCACTGAACATTTCAGAACAGCCACACTGGCCTGTCTGGTCCACTTCCTGGAGTACACAGAGGAATGATTTTTTGTGAAGTCTACATAGTCACCCAATCTCTTCATCCTGGGTCAGTACACAGTCTCCCCGGCCACATGGGTGCCTGGGAAACTGAGAGTGAGGCACCAGAAGTCTCTTTTCACTCATCAAATTCTCATTTTCTGGGTCTCTCAAATGTTTTCATGCTCTCAGGTATCTCTAAGGGACAGCAGTCTGGAGGCTGACCACGTTATTAGTGCCATTCCAGCTTCAGGTAATGGAATAGCCACCTTCCCCTTCCCCAACCCCTACCAGTGAGAAGCAAAAGCTATACCTTCCTGGGTCAGCAGGACCACACCATGCCCCTGAACTGGTCATCTCTATGGGAGTCTAATCCCAAAGAGGACTGACAACTGTAATGGGAATGCCTTCTGAGTCAGGCCTCTGCCTGATCTCTAGTGCTCAGTGAGCTGCTCCCTGCTGAGGCTGCCCCTCTGGCTCGTGCCCTGAGTGCCATCACTGCAGTGTCTGTAGCTGTGGTGAATCTGCAGTACCAAGGAGCCCATCTGCCTGTCCAGGTATGATAAAGGGACGGAGAGGCTGGGCATGGTGGCTCACACCTGTAATCCCAGCATTTTGGGAGGCCGAGGTGGGCAGATAACAAGGTCAGGAGTTCGAGACCAGCCTGGCCAACATGGTGAAACCCCATCT
CTGTTTATGGAGCCGCCTCCCCGTGGACTGGCCTTAAGTGTCCCTATCTATTCTCCCTACGACCAAAGCTCCTGCGGCCTTCCCTCTAGGGTTGTCACCCTAGCTGGACCTGGTAAGCTTGTGCTGGGGAACGCTAACTCCAGCATTAAGCGCTCGCCGCCTCGGTCCTGAGGAGGGCAGTGACGGGTACGGCCGCTCACTCCCAGCTCGGCGCTAACACGGTTAACCTCCAGCTCTTACAGCTGCCGTCGCTCCGCCTCTGCCAGTTCAATGTTTTATTGGTGAACGTGATCCGGGGCCTTCCAAGTCCCGCCAATCCAGATGTAGGAGAGGTAGGGTTAGGCGCGTGCCGCGAGAACAGAGTGGACGGAGCGTAGGAGAGACCGAAAAGGCTGGGGGTGGGAGTAGCGGATTTGAAGCACTTGTTGGCCTACAGAGGTGTGGCAAGCAGAGCACCTCAGAACTCAGGCGTACTGCCCGCCGCCCGAGCCCTGCGAGGGCCGATAGCGAGGGTGTGGCCCTTATCTGCACCCAGCAGAGCGCCGGCGGGGTACGGTCTTAGGACCTCGATCTCCTTCTCCCTCATTTTCTCTCATCCCTACCTATTGTGGGTGAGTCCTGGCCCCTGGACGGGGACCTCGCTGTTCCACCAGCCCATCCGTGCACACTTAGTTTCCCCTAAAGCAGTGAGTGGCCGGGATAGAACTCAAAACCGGCGGGGCTTCTGGAGCGCAGGTTGTCCCCGGTCTGCCTGTCCATATCGCCCCCTTTCCCCCAGGTTTCCGCATGGGCCGGACCGTGGTCGTGCTGGGCGGAGGCATCAGCGGCTTGGCCGCCAGTTACCACCTGAGCCGGGCCCCCTGCCCCCCTAAGGTGAGTGCTCCACTTGTGCCAGAGGGAGCTTCATTTAATGCTCTTCCCATTTCCATCAAAAGCTAGATGGATCCTGGCCCTCTGAATATGCCTCTTCCCCTCCCCTCCTGACCTCTCGCCGGCGGCTACAGGCGGTGCTGCAGTGTCTCTCCCTCTTGTCGCCAGGTGGTCCTAGTGGAGAGCAGTGAGCGTCTGGGAGGCTGGATTCGCTCCGTTCGAGGCCCTAATGGTGCTATCTTTGAGCTTGGACCTCGGGGAATTAGGCCAGCGGGAGCCCTAGGGGCCCGGACCTTGCTCCTGGTGAGAGGCTTGTGGGATGTCTAGGAGAGGTTGTGGAGGGGGCTTCCATTGGGGAATAGAGTTTAGGGGAGGAAGTATGTTTGGTGGGTCAGATCTTCCCTTAGTTTCTCCTCTTCTGAGGGCATGTGGAGAGCAGGTTTCTGAGCTTGGCTTGGATTCAGAAGTGCTGCCTGTCCGGGGAGACCACCCAGCTGCCCAGAACAGGTTCCTCTACGTGGGCGGTGCCCTGCATGCCCTACCCACTGGCCTCAGGTAACACCAGCACCTCCGCTCCTTTTACTGTGCCCTCATCCTCATATGCCTTCCATTTCTTTCTTCTTTTCTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTATCGCTCTCGCCCAGGATGGAGTGCAATGGCGCGATCTTGGCTCACTGCAACTTCCGCCTTTCGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGTGCCTACCACCACGTCTGGCTAGTTTTTGTATTTTTAGTAGAGATGGGGTTTCACCATATTGGCCAGGCTGGTCTTGAACTCCTGACCTTGTGATCCGCCCGCCTCGGCCTGCCAAAGTGCTGGGATTACAGGCGTGAGCCACCACGCCCGACCTGCCTTCCATTTCTTCATCTCCCTGTCAGCCTTCCCAGCAAAAGGAAGCCAAATGAGTGGAAATGACCCCAGCGCCTGGAGCTGGGGAGGTATGTCAGGAGCTTCCCCCTCACTATGCCTTTCTCCATGCAGGGGGCTACTCCGCCCTTCACCCCCCTTCTCCAAACCTCTGTTTTGGGCTGGGCTGAGGGAGCTGACCAAGCCCCGGGGCAAAGAGCCTGATGAGACTGTGCACAGTTTTGCCCAGTGCCGCCTTGGACCTGAGGTGACACTTGCCCAGAGGCCCCAAACCTCTTCCCTCCTAAACCAGCTGCAGAGCTCCCTGTTCAAATCTACCACCTAGGGGCTCTTCTGTATCATTTGGGGATGCCCTCTTCTCTTCATACCCCACCCCCTCATAATTCCCAAAACTCATTATTGGGAGTGAAGGCCTTCATTTCCATCCGTCACAGTGGGAATGTCCCCCAACCCAAACCCTATCCCACCCTCATTCCCTACCAAATAGGGGCTGTGGAAATCAGTCAGTGTAGATTATTTTTTCGCTCCTTAGTCCTAGTCTCACCCTTAAGGTGGCGTCTCTAGCCATGGACAGTCTCTGCCGTGGAGTGTTTGCAGGCAACAGCCGTGAGCTCAGCATCAGGTCCTGCTTTCCCAGTCTCTTCCAAGCTGAGCAAACCCATCGTTCCATATTACTGGGCCTGCTGCTGGGGGCAGGTGAGGGGGGATTGATTCAGAGGGTGAAAATATTAAGTACTGCCAAAGTGAGGGAGTGGGGACAAGGGGTGCTATTCAATGATTCTTTTTTTCTTTTTTGAGACGGAGTCTTGCTCTGCTGCCTAGGCTGGAGTGCAGTGGTGCAATCTCAGATCGGCTCGCTGCAACCTCCGCCTCCCAGATTCAAGCAATTCTCCTGCCTCAGCCTCTTAAGTAGCTGGGATTACAAACATGTGCCACCACTCCCAGCTAATCTTTGTATTTTTTTGTAGAGATGCAGTTTCACTATGTTGGCCAGGCTGGTCTCAAACTCCTGACCTCAAGTGATCCACCCGCCTCGGCCTCCTAAAGTGCTGGGATTACAGGTGTGAGCCACTGCATCCAGCCTCAATGATTCTTCTTTGCTTCCTCTGCAGGGCGGACCCCACAGCCAGACTCAGCACTCATTCGCCAGGCCTTGGCTGAGCGCTGGAGCCAGTGGTCACTTCGTGGAGGTCTAGAGATGTTGCCTCAGGCCCTTGAAACCCACCTGACTAGTAGGGGGGTCAGTGTTCTCAGAGGCCAGCCGGTCTGTGGGCTCAGCCTCCAGGCAGAAGGGCGCTGGAAGGTAGGGGAACCCCTGGAGTGTAATGAACCTGTCAGTGTTTCCATCTTTATCCAAGTGGCTTAACTAGGCCAGGGCCGATAGGACTGGAGTTCCTCATTGTTTTTGTGCCTTAGAAGCTACTTAGACATGGGCTACCCCAGAATCCTAGGCCCTATTTGTGAACCTTCCTCAAAGAGCCTATGCAAGTCTGTGGATAGAAGTAGTACTTATAAGTGGCTTAGAGATAGGGGAAAGAACCCAGCTTCACTGAACATTTCAGAACAGCCACACTGGCCTGTCTGGTCCACTTCCTGGAGTACACAGAGGAATGATTTTTTGTGAAGTCTACATAGTCACCCAATCTCTTCATCCTGGGTCAGTACACAGTCTCCCCGGCCACATGGGTGCCTGGGAAACTGAGAGTGAGGCACCAGAAGTCTCTTTTCACTCATCAAATTCTCATTTTCTGGGTCTCTCAAATGTTTTCATGCTCTCAGGTATCTCTAAGGGACAGCAGTCTGGAGGCTGACCACGTTATTAGTGCCATTCCAGCTTCAGGTAATGGAATAGCCACCTTCCCCTTCCCCAACCCCTACCAGTGAGAAGCAAAAGCTATACCTTCCTGGGTCAGCAGGACCACACCATGCCCCTGAACTGGTCATCTCTATGGGAGTCTAATCCCAAAGAGGACTGACAACTGTAATGGGAATGCCTTCTGAGTCAGGCCTCTGCCTGATCTCTAGTGCTCAGTGAGCTGCTCCCTGCTGAGGCTGCCCCTCTGGCTCGTGCCCTGAGTGCCATCACTGCAGTGTCTGTAGCTGTGGTGAATCTGCAGTACCAAGGAGCCCATCTGCCTGTCCAGGTATGATAAAGGGACGGAGAGGCTGGGCATGGTGGCTCACACCTGTAATCCCAGCATTTTGGGAGGCCGAGGTGGGCAGATAACAAGGTCAGGAGTTCGAGACCAGCCTGGCCAACATGGTGAAACCCCATCT
Task1_train_1988
Given this variant in gene PPOX (protoporphyrinogen oxidase) on Chromosome 1, classify it as benign or pathogenic. Include the disorder it may cause if applicable.
Pathogenic; not provided
ATGCCTCTTCCCCTCCCCTCCTGACCTCTCGCCGGCGGCTACAGGCGGTGCTGCAGTGTCTCTCCCTCTTGTCGCCAGGTGGTCCTAGTGGAGAGCAGTGAGCGTCTGGGAGGCTGGATTCGCTCCGTTCGAGGCCCTAATGGTGCTATCTTTGAGCTTGGACCTCGGGGAATTAGGCCAGCGGGAGCCCTAGGGGCCCGGACCTTGCTCCTGGTGAGAGGCTTGTGGGATGTCTAGGAGAGGTTGTGGAGGGGGCTTCCATTGGGGAATAGAGTTTAGGGGAGGAAGTATGTTTGGTGGGTCAGATCTTCCCTTAGTTTCTCCTCTTCTGAGGGCATGTGGAGAGCAGGTTTCTGAGCTTGGCTTGGATTCAGAAGTGCTGCCTGTCCGGGGAGACCACCCAGCTGCCCAGAACAGGTTCCTCTACGTGGGCGGTGCCCTGCATGCCCTACCCACTGGCCTCAGGTAACACCAGCACCTCCGCTCCTTTTACTGTGCCCTCATCCTCATATGCCTTCCATTTCTTTCTTCTTTTCTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTATCGCTCTCGCCCAGGATGGAGTGCAATGGCGCGATCTTGGCTCACTGCAACTTCCGCCTTTCGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGTGCCTACCACCACGTCTGGCTAGTTTTTGTATTTTTAGTAGAGATGGGGTTTCACCATATTGGCCAGGCTGGTCTTGAACTCCTGACCTTGTGATCCGCCCGCCTCGGCCTGCCAAAGTGCTGGGATTACAGGCGTGAGCCACCACGCCCGACCTGCCTTCCATTTCTTCATCTCCCTGTCAGCCTTCCCAGCAAAAGGAAGCCAAATGAGTGGAAATGACCCCAGCGCCTGGAGCTGGGGAGGTATGTCAGGAGCTTCCCCCTCACTATGCCTTTCTCCATGCAGGGGGCTACTCCGCCCTTCACCCCCCTTCTCCAAACCTCTGTTTTGGGCTGGGCTGAGGGAGCTGACCAAGCCCCGGGGCAAAGAGCCTGATGAGACTGTGCACAGTTTTGCCCAGCGCCGCCTTGGACCTGAGGTGACACTTGCCCAGAGGCCCCAAACCTCTTCCCTCCTAAACCAGCTGCAGAGCTCCCTGTTCAAATCTACCACCTAGGGGCTCTTCTGTATCATTTGGGGATGCCCTCTTCTCTTCATACCCCACCCCCTCATAATTCCCAAAACTCATTATTGGGAGTGAAGGCCTTCATTTCCATCCGTCACAGTGGGAATGTCCCCCAACCCAAACCCTATCCCACCCTCATTCCCTACCAAATAGGGGCTGTGGAAATCAGTCAGTGTAGATTATTTTTTCGCTCCTTAGTCCTAGTCTCACCCTTAAGGTGGCGTCTCTAGCCATGGACAGTCTCTGCCGTGGAGTGTTTGCAGGCAACAGCCGTGAGCTCAGCATCAGGTCCTGCTTTCCCAGTCTCTTCCAAGCTGAGCAAACCCATCGTTCCATATTACTGGGCCTGCTGCTGGGGGCAGGTGAGGGGGGATTGATTCAGAGGGTGAAAATATTAAGTACTGCCAAAGTGAGGGAGTGGGGACAAGGGGTGCTATTCAATGATTCTTTTTTTCTTTTTTGAGACGGAGTCTTGCTCTGCTGCCTAGGCTGGAGTGCAGTGGTGCAATCTCAGATCGGCTCGCTGCAACCTCCGCCTCCCAGATTCAAGCAATTCTCCTGCCTCAGCCTCTTAAGTAGCTGGGATTACAAACATGTGCCACCACTCCCAGCTAATCTTTGTATTTTTTTGTAGAGATGCAGTTTCACTATGTTGGCCAGGCTGGTCTCAAACTCCTGACCTCAAGTGATCCACCCGCCTCGGCCTCCTAAAGTGCTGGGATTACAGGTGTGAGCCACTGCATCCAGCCTCAATGATTCTTCTTTGCTTCCTCTGCAGGGCGGACCCCACAGCCAGACTCAGCACTCATTCGCCAGGCCTTGGCTGAGCGCTGGAGCCAGTGGTCACTTCGTGGAGGTCTAGAGATGTTGCCTCAGGCCCTTGAAACCCACCTGACTAGTAGGGGGGTCAGTGTTCTCAGAGGCCAGCCGGTCTGTGGGCTCAGCCTCCAGGCAGAAGGGCGCTGGAAGGTAGGGGAACCCCTGGAGTGTAATGAACCTGTCAGTGTTTCCATCTTTATCCAAGTGGCTTAACTAGGCCAGGGCCGATAGGACTGGAGTTCCTCATTGTTTTTGTGCCTTAGAAGCTACTTAGACATGGGCTACCCCAGAATCCTAGGCCCTATTTGTGAACCTTCCTCAAAGAGCCTATGCAAGTCTGTGGATAGAAGTAGTACTTATAAGTGGCTTAGAGATAGGGGAAAGAACCCAGCTTCACTGAACATTTCAGAACAGCCACACTGGCCTGTCTGGTCCACTTCCTGGAGTACACAGAGGAATGATTTTTTGTGAAGTCTACATAGTCACCCAATCTCTTCATCCTGGGTCAGTACACAGTCTCCCCGGCCACATGGGTGCCTGGGAAACTGAGAGTGAGGCACCAGAAGTCTCTTTTCACTCATCAAATTCTCATTTTCTGGGTCTCTCAAATGTTTTCATGCTCTCAGGTATCTCTAAGGGACAGCAGTCTGGAGGCTGACCACGTTATTAGTGCCATTCCAGCTTCAGGTAATGGAATAGCCACCTTCCCCTTCCCCAACCCCTACCAGTGAGAAGCAAAAGCTATACCTTCCTGGGTCAGCAGGACCACACCATGCCCCTGAACTGGTCATCTCTATGGGAGTCTAATCCCAAAGAGGACTGACAACTGTAATGGGAATGCCTTCTGAGTCAGGCCTCTGCCTGATCTCTAGTGCTCAGTGAGCTGCTCCCTGCTGAGGCTGCCCCTCTGGCTCGTGCCCTGAGTGCCATCACTGCAGTGTCTGTAGCTGTGGTGAATCTGCAGTACCAAGGAGCCCATCTGCCTGTCCAGGTATGATAAAGGGACGGAGAGGCTGGGCATGGTGGCTCACACCTGTAATCCCAGCATTTTGGGAGGCCGAGGTGGGCAGATAACAAGGTCAGGAGTTCGAGACCAGCCTGGCCAACATGGTGAAACCCCATCTCTACGAAAAATACAAAAATTAGCCAGGTGTGGTGGCTTGCACCTGTAATCTCAGCTACTCGGGAGGCTAAGGCAGGAGAATCGCTTGAACCCAGGAGGTGGAGGTTGCAGTGAGCTGAGATCTCGCCATTACACTCCAGCCTGGGTGACAGAGTGAGACTCTGTCCCCCCCACCCCCCCAAAAAAATGGGAAGGAGAGACAGCCTCAGCTAGAGCCCTTTCCTTCTGACGCATGAATGTCCTTCTCTCCAGGGATTTGGACATTTGGTGCCATCTTCAGAAGATCCAGGAGTCCTGGGAATCGTGTATGACTCAGTTGCTTTCCCTGAGCAGGACGGGAGCCCCCCTGGCCTCAGAGTGACTGTGAGGAGGAGGAAACTTTGCCTAGTGGCATTTCCAGAGGGCTCCTCTGTGCTCCATTGTAGGCAAGGCCAGACTGATCAGTGCTATATTCCCTCCTTAGGTGATGCTGGGAGGTTCCTGGTTACAGACACTGGAGGCTAGTGGCTGTGTCTTATCTCAGGAGCTGTTTCAACAGCGGGCCCAGGAAGCAGCTGCTACACAATTAGGACTGAAGGAGATGCCGAGCCACTGCTTGGTCCATCTACACAAGGTAAGTTGGGATAAACTTCCCTCAGCTCTCCACTGAAGGCCTTGAAGACAGAGACTGGAACATTTGTCACTGTATGTCAGCCAAGGCCTAGGACATCAATAATAAACTTTTCCCTGCATCCTCTCCTCTCTTCTCAGAACTGCATTCCCCAGTATACACTAGGTCACTGGCAAAAACTAGGTAAGTTGGGAAAACAGCTGGGCTGAGGAGGGCCAAGGACATCAGACCCCCAGCTAAAACATTCCTTTCATCCTTTCCTTCCAGAGTCAGCTAGGCAATTCCTGACTGCTCACAGGTTGCCCCTGACTCTGGCTGGAGCCTCCTATGAGGGAGTTGCTGTTAATGACT
ATGCCTCTTCCCCTCCCCTCCTGACCTCTCGCCGGCGGCTACAGGCGGTGCTGCAGTGTCTCTCCCTCTTGTCGCCAGGTGGTCCTAGTGGAGAGCAGTGAGCGTCTGGGAGGCTGGATTCGCTCCGTTCGAGGCCCTAATGGTGCTATCTTTGAGCTTGGACCTCGGGGAATTAGGCCAGCGGGAGCCCTAGGGGCCCGGACCTTGCTCCTGGTGAGAGGCTTGTGGGATGTCTAGGAGAGGTTGTGGAGGGGGCTTCCATTGGGGAATAGAGTTTAGGGGAGGAAGTATGTTTGGTGGGTCAGATCTTCCCTTAGTTTCTCCTCTTCTGAGGGCATGTGGAGAGCAGGTTTCTGAGCTTGGCTTGGATTCAGAAGTGCTGCCTGTCCGGGGAGACCACCCAGCTGCCCAGAACAGGTTCCTCTACGTGGGCGGTGCCCTGCATGCCCTACCCACTGGCCTCAGGTAACACCAGCACCTCCGCTCCTTTTACTGTGCCCTCATCCTCATATGCCTTCCATTTCTTTCTTCTTTTCTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTATCGCTCTCGCCCAGGATGGAGTGCAATGGCGCGATCTTGGCTCACTGCAACTTCCGCCTTTCGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGTGCCTACCACCACGTCTGGCTAGTTTTTGTATTTTTAGTAGAGATGGGGTTTCACCATATTGGCCAGGCTGGTCTTGAACTCCTGACCTTGTGATCCGCCCGCCTCGGCCTGCCAAAGTGCTGGGATTACAGGCGTGAGCCACCACGCCCGACCTGCCTTCCATTTCTTCATCTCCCTGTCAGCCTTCCCAGCAAAAGGAAGCCAAATGAGTGGAAATGACCCCAGCGCCTGGAGCTGGGGAGGTATGTCAGGAGCTTCCCCCTCACTATGCCTTTCTCCATGCAGGGGGCTACTCCGCCCTTCACCCCCCTTCTCCAAACCTCTGTTTTGGGCTGGGCTGAGGGAGCTGACCAAGCCCCGGGGCAAAGAGCCTGATGAGACTGTGCACAGTTTTGCCCAGCGCCGCCTTGGACCTGAGGTGACACTTGCCCAGAGGCCCCAAACCTCTTCCCTCCTAAACCAGCTGCAGAGCTCCCTGTTCAAATCTACCACCTAGGGGCTCTTCTGTATCATTTGGGGATGCCCTCTTCTCTTCATACCCCACCCCCTCATAATTCCCAAAACTCATTATTGGGAGTGAAGGCCTTCATTTCCATCCGTCACAGTGGGAATGTCCCCCAACCCAAACCCTATCCCACCCTCATTCCCTACCAAATAGGGGCTGTGGAAATCAGTCAGTGTAGATTATTTTTTCGCTCCTTAGTCCTAGTCTCACCCTTAAGGTGGCGTCTCTAGCCATGGACAGTCTCTGCCGTGGAGTGTTTGCAGGCAACAGCCGTGAGCTCAGCATCAGGTCCTGCTTTCCCAGTCTCTTCCAAGCTGAGCAAACCCATCGTTCCATATTACTGGGCCTGCTGCTGGGGGCAGGTGAGGGGGGATTGATTCAGAGGGTGAAAATATTAAGTACTGCCAAAGTGAGGGAGTGGGGACAAGGGGTGCTATTCAATGATTCTTTTTTTCTTTTTTGAGACGGAGTCTTGCTCTGCTGCCTAGGCTGGAGTGCAGTGGTGCAATCTCAGATCGGCTCGCTGCAACCTCCGCCTCCCAGATTCAAGCAATTCTCCTGCCTCAGCCTCTTAAGTAGCTGGGATTACAAACATGTGCCACCACTCCCAGCTAATCTTTGTATTTTTTTGTAGAGATGCAGTTTCACTATGTTGGCCAGGCTGGTCTCAAACTCCTGACCTCAAGTGATCCACCCGCCTCGGCCTCCTAAAGTGCTGGGATTACAGGTGTGAGCCACTGCATCCAGCCTCAATGATTCTTCTTTGCTTCCTCTGCAGGGCGGACCCCACAGCCAGACTCAGCACTCATTCGCCAGGCCTTGGCTGAGCGCTGGAGCCAGTGGTCACTTCGTGGACGTCTAGAGATGTTGCCTCAGGCCCTTGAAACCCACCTGACTAGTAGGGGGGTCAGTGTTCTCAGAGGCCAGCCGGTCTGTGGGCTCAGCCTCCAGGCAGAAGGGCGCTGGAAGGTAGGGGAACCCCTGGAGTGTAATGAACCTGTCAGTGTTTCCATCTTTATCCAAGTGGCTTAACTAGGCCAGGGCCGATAGGACTGGAGTTCCTCATTGTTTTTGTGCCTTAGAAGCTACTTAGACATGGGCTACCCCAGAATCCTAGGCCCTATTTGTGAACCTTCCTCAAAGAGCCTATGCAAGTCTGTGGATAGAAGTAGTACTTATAAGTGGCTTAGAGATAGGGGAAAGAACCCAGCTTCACTGAACATTTCAGAACAGCCACACTGGCCTGTCTGGTCCACTTCCTGGAGTACACAGAGGAATGATTTTTTGTGAAGTCTACATAGTCACCCAATCTCTTCATCCTGGGTCAGTACACAGTCTCCCCGGCCACATGGGTGCCTGGGAAACTGAGAGTGAGGCACCAGAAGTCTCTTTTCACTCATCAAATTCTCATTTTCTGGGTCTCTCAAATGTTTTCATGCTCTCAGGTATCTCTAAGGGACAGCAGTCTGGAGGCTGACCACGTTATTAGTGCCATTCCAGCTTCAGGTAATGGAATAGCCACCTTCCCCTTCCCCAACCCCTACCAGTGAGAAGCAAAAGCTATACCTTCCTGGGTCAGCAGGACCACACCATGCCCCTGAACTGGTCATCTCTATGGGAGTCTAATCCCAAAGAGGACTGACAACTGTAATGGGAATGCCTTCTGAGTCAGGCCTCTGCCTGATCTCTAGTGCTCAGTGAGCTGCTCCCTGCTGAGGCTGCCCCTCTGGCTCGTGCCCTGAGTGCCATCACTGCAGTGTCTGTAGCTGTGGTGAATCTGCAGTACCAAGGAGCCCATCTGCCTGTCCAGGTATGATAAAGGGACGGAGAGGCTGGGCATGGTGGCTCACACCTGTAATCCCAGCATTTTGGGAGGCCGAGGTGGGCAGATAACAAGGTCAGGAGTTCGAGACCAGCCTGGCCAACATGGTGAAACCCCATCTCTACGAAAAATACAAAAATTAGCCAGGTGTGGTGGCTTGCACCTGTAATCTCAGCTACTCGGGAGGCTAAGGCAGGAGAATCGCTTGAACCCAGGAGGTGGAGGTTGCAGTGAGCTGAGATCTCGCCATTACACTCCAGCCTGGGTGACAGAGTGAGACTCTGTCCCCCCCACCCCCCCAAAAAAATGGGAAGGAGAGACAGCCTCAGCTAGAGCCCTTTCCTTCTGACGCATGAATGTCCTTCTCTCCAGGGATTTGGACATTTGGTGCCATCTTCAGAAGATCCAGGAGTCCTGGGAATCGTGTATGACTCAGTTGCTTTCCCTGAGCAGGACGGGAGCCCCCCTGGCCTCAGAGTGACTGTGAGGAGGAGGAAACTTTGCCTAGTGGCATTTCCAGAGGGCTCCTCTGTGCTCCATTGTAGGCAAGGCCAGACTGATCAGTGCTATATTCCCTCCTTAGGTGATGCTGGGAGGTTCCTGGTTACAGACACTGGAGGCTAGTGGCTGTGTCTTATCTCAGGAGCTGTTTCAACAGCGGGCCCAGGAAGCAGCTGCTACACAATTAGGACTGAAGGAGATGCCGAGCCACTGCTTGGTCCATCTACACAAGGTAAGTTGGGATAAACTTCCCTCAGCTCTCCACTGAAGGCCTTGAAGACAGAGACTGGAACATTTGTCACTGTATGTCAGCCAAGGCCTAGGACATCAATAATAAACTTTTCCCTGCATCCTCTCCTCTCTTCTCAGAACTGCATTCCCCAGTATACACTAGGTCACTGGCAAAAACTAGGTAAGTTGGGAAAACAGCTGGGCTGAGGAGGGCCAAGGACATCAGACCCCCAGCTAAAACATTCCTTTCATCCTTTCCTTCCAGAGTCAGCTAGGCAATTCCTGACTGCTCACAGGTTGCCCCTGACTCTGGCTGGAGCCTCCTATGAGGGAGTTGCTGTTAATGACT
Task1_train_1989
Here’s a variant in PPOX (protoporphyrinogen oxidase) located on Chromosome 1. What is the predicted biological effect — harmless or disease-causing?
Pathogenic; Variegate porphyria, childhood-onset
TCTCACCCTTAAGGTGGCGTCTCTAGCCATGGACAGTCTCTGCCGTGGAGTGTTTGCAGGCAACAGCCGTGAGCTCAGCATCAGGTCCTGCTTTCCCAGTCTCTTCCAAGCTGAGCAAACCCATCGTTCCATATTACTGGGCCTGCTGCTGGGGGCAGGTGAGGGGGGATTGATTCAGAGGGTGAAAATATTAAGTACTGCCAAAGTGAGGGAGTGGGGACAAGGGGTGCTATTCAATGATTCTTTTTTTCTTTTTTGAGACGGAGTCTTGCTCTGCTGCCTAGGCTGGAGTGCAGTGGTGCAATCTCAGATCGGCTCGCTGCAACCTCCGCCTCCCAGATTCAAGCAATTCTCCTGCCTCAGCCTCTTAAGTAGCTGGGATTACAAACATGTGCCACCACTCCCAGCTAATCTTTGTATTTTTTTGTAGAGATGCAGTTTCACTATGTTGGCCAGGCTGGTCTCAAACTCCTGACCTCAAGTGATCCACCCGCCTCGGCCTCCTAAAGTGCTGGGATTACAGGTGTGAGCCACTGCATCCAGCCTCAATGATTCTTCTTTGCTTCCTCTGCAGGGCGGACCCCACAGCCAGACTCAGCACTCATTCGCCAGGCCTTGGCTGAGCGCTGGAGCCAGTGGTCACTTCGTGGAGGTCTAGAGATGTTGCCTCAGGCCCTTGAAACCCACCTGACTAGTAGGGGGGTCAGTGTTCTCAGAGGCCAGCCGGTCTGTGGGCTCAGCCTCCAGGCAGAAGGGCGCTGGAAGGTAGGGGAACCCCTGGAGTGTAATGAACCTGTCAGTGTTTCCATCTTTATCCAAGTGGCTTAACTAGGCCAGGGCCGATAGGACTGGAGTTCCTCATTGTTTTTGTGCCTTAGAAGCTACTTAGACATGGGCTACCCCAGAATCCTAGGCCCTATTTGTGAACCTTCCTCAAAGAGCCTATGCAAGTCTGTGGATAGAAGTAGTACTTATAAGTGGCTTAGAGATAGGGGAAAGAACCCAGCTTCACTGAACATTTCAGAACAGCCACACTGGCCTGTCTGGTCCACTTCCTGGAGTACACAGAGGAATGATTTTTTGTGAAGTCTACATAGTCACCCAATCTCTTCATCCTGGGTCAGTACACAGTCTCCCCGGCCACATGGGTGCCTGGGAAACTGAGAGTGAGGCACCAGAAGTCTCTTTTCACTCATCAAATTCTCATTTTCTGGGTCTCTCAAATGTTTTCATGCTCTCAGGTATCTCTAAGGGACAGCAGTCTGGAGGCTGACCACGTTATTAGTGCCATTCCAGCTTCAGGTAATGGAATAGCCACCTTCCCCTTCCCCAACCCCTACCAGTGAGAAGCAAAAGCTATACCTTCCTGGGTCAGCAGGACCACACCATGCCCCTGAACTGGTCATCTCTATGGGAGTCTAATCCCAAAGAGGACTGACAACTGTAATGGGAATGCCTTCTGAGTCAGGCCTCTGCCTGATCTCTAGTGCTCAGTGAGCTGCTCCCTGCTGAGGCTGCCCCTCTGGCTCGTGCCCTGAGTGCCATCACTGCAGTGTCTGTAGCTGTGGTGAATCTGCAGTACCAAGGAGCCCATCTGCCTGTCCAGGTATGATAAAGGGACGGAGAGGCTGGGCATGGTGGCTCACACCTGTAATCCCAGCATTTTGGGAGGCCGAGGTGGGCAGATAACAAGGTCAGGAGTTCGAGACCAGCCTGGCCAACATGGTGAAACCCCATCTCTACGAAAAATACAAAAATTAGCCAGGTGTGGTGGCTTGCACCTGTAATCTCAGCTACTCGGGAGGCTAAGGCAGGAGAATCGCTTGAACCCAGGAGGTGGAGGTTGCAGTGAGCTGAGATCTCGCCATTACACTCCAGCCTGGGTGACAGAGTGAGACTCTGTCCCCCCCACCCCCCCAAAAAAATGGGAAGGAGAGACAGCCTCAGCTAGAGCCCTTTCCTTCTGACGCATGAATGTCCTTCTCTCCAGGGATTTGGACATTTGGTGCCATCTTCAGAAGATCCAGGAGTCCTGGGAATCGTGTATGACTCAGTTGCTTTCCCTGAGCAGGACGGGAGCCCCCCTGGCCTCAGAGTGACTGTGAGGAGGAGGAAACTTTGCCTAGTGGCATTTCCAGAGGGCTCCTCTGTGCTCCATTGTAGGCAAGGCCAGACTGATCAGTGCTATATTCCCTCCTTAGGTGATGCTGGGAGGTTCCTGGTTACAGACACTGGAGGCTAGTGGCTGTGTCTTATCTCAGGAGCTGTTTCAACAGCGGGCCCAGGAAGCAGCTGCTACACAATTAGGACTGAAGGAGATGCCGAGCCACTGCTTGGTCCATCTACACAAGGTAAGTTGGGATAAACTTCCCTCAGCTCTCCACTGAAGGCCTTGAAGACAGAGACTGGAACATTTGTCACTGTATGTCAGCCAAGGCCTAGGACATCAATAATAAACTTTTCCCTGCATCCTCTCCTCTCTTCTCAGAACTGCATTCCCCAGTATACACTAGGTCACTGGCAAAAACTAGGTAAGTTGGGAAAACAGCTGGGCTGAGGAGGGCCAAGGACATCAGACCCCCAGCTAAAACATTCCTTTCATCCTTTCCTTCCAGAGTCAGCTAGGCAATTCCTGACTGCTCACAGGTTGCCCCTGACTCTGGCTGGAGCCTCCTATGAGGGAGTTGCTGTTAATGACTGTATAGAGAGTGGGCGCCAGGCAGCAGTCAGTGTCCTGGGCACAGAACCTAACAGCTGATCCCCAACTCTCATTCATGAAAATAAAAATTGCTGGAGCTTGGCTTGGTCTGGCTGTTCTATCACCTATAGGCATAAGAATGCGGGGCAGCAAAGAGGCAAAGTGTGCCTGGGATGCAGAAAGCAGGAGCAGATGCGAGACAAAGTCCTTTATTAGAAAATATATCAAAATCCCAGCCCCCTGAGCCAGGACCAGAAGAGGGAGCTATTCCAGCATAGGCAGAAAATGCCCAGGGAGGGGCTTCCTTCACCAAACAACTTCCCGGGAACCATAAATAGAATAAATATTCACAGAGGTCCGAGGAGAAGCCAGATCACTCTTCTCTCCATGGAAGAGGGAGGGGCTTGGGGTCCAGCCCTGCTCCTACTCTAGGGGCAGGGACTCCTAGGAATCGTCACATAAAATCATGACATCAAGGATTCACAGTCATAAGCCCTACAGGAGACCCTAGAGAGAGGGACCCCTCAGGTCTACAGGAGCCCAGCTCCAGTCCAGCAGTGAGGGAGAGGCCCCTACCCCCTAGCACGGCACCAGAGTTCAGTTCCCTCACATCCCTCTGAGAACAGTGAGGAGCTGAGGGTGGGGAGAATACAACCCCATGAATTCGGTTTCATGATTAAGGTAGACAGGAAGGAGGAGTCAGTGTGAACCTCGGAGGGCTGTGTGGTTGGCAGTAGATAGAGGCCCAGGCCTGGCTGGGGGCCGGCGTTGCAGCATCTCTTGACGGAAGGCTTGGGAGGAACCAGGTGGGTAACGTGGCCCAGAAGGAGCCCGAGGACCCCGAGGGTCAGTCCCAATGTCTGCTGTGATGTTGGTATAAAGAGGCCCCAGCTCTCGAGCCAGCAACTGGTATGTCAGTGAGTTCATCCCATCTTGCGTCCAGGAATTCTGGGTACGGACCAGGAGGTCAAATCTGAGGGTTAGAGGTTGGAGACTAAGACCCAGAAAGGAACAGCCAGAAATCTAGGGACCTTTAGGATTTTCCTGGCTAGGGGTACAGAACCCTGAGGATCCAGTAACAATTCCCAGGCAGTCCTTCCTTCTTCCTACCTGTGGGGATTTTCCTCATTGCCCTTATCTCCTCGGTGCTTCACCATCTTATAGTGTCCTACAGATGTGGGGGGCCGAGAGATCTTCATCCCAGCCAGGCGCACCCTATGGGAAAAGTGAGGGTATCATGGGGGATCCAGAGTAGAGAAAAGCAAGGAAGGGATTAAATGTTTCTGTACACACAAAAAAACAACTATTACTTAGTAGGCAAAAGAAAAAAAAAGCCCAGGACAGAAGTCAAACAGAAAGAAGGAAATGGCTGAAGAGAATATAAAAGCTGGATGTATC
TCTCACCCTTAAGGTGGCGTCTCTAGCCATGGACAGTCTCTGCCGTGGAGTGTTTGCAGGCAACAGCCGTGAGCTCAGCATCAGGTCCTGCTTTCCCAGTCTCTTCCAAGCTGAGCAAACCCATCGTTCCATATTACTGGGCCTGCTGCTGGGGGCAGGTGAGGGGGGATTGATTCAGAGGGTGAAAATATTAAGTACTGCCAAAGTGAGGGAGTGGGGACAAGGGGTGCTATTCAATGATTCTTTTTTTCTTTTTTGAGACGGAGTCTTGCTCTGCTGCCTAGGCTGGAGTGCAGTGGTGCAATCTCAGATCGGCTCGCTGCAACCTCCGCCTCCCAGATTCAAGCAATTCTCCTGCCTCAGCCTCTTAAGTAGCTGGGATTACAAACATGTGCCACCACTCCCAGCTAATCTTTGTATTTTTTTGTAGAGATGCAGTTTCACTATGTTGGCCAGGCTGGTCTCAAACTCCTGACCTCAAGTGATCCACCCGCCTCGGCCTCCTAAAGTGCTGGGATTACAGGTGTGAGCCACTGCATCCAGCCTCAATGATTCTTCTTTGCTTCCTCTGCAGGGCGGACCCCACAGCCAGACTCAGCACTCATTCGCCAGGCCTTGGCTGAGCGCTGGAGCCAGTGGTCACTTCGTGGAGGTCTAGAGATGTTGCCTCAGGCCCTTGAAACCCACCTGACTAGTAGGGGGGTCAGTGTTCTCAGAGGCCAGCCGGTCTGTGGGCTCAGCCTCCAGGCAGAAGGGCGCTGGAAGGTAGGGGAACCCCTGGAGTGTAATGAACCTGTCAGTGTTTCCATCTTTATCCAAGTGGCTTAACTAGGCCAGGGCCGATAGGACTGGAGTTCCTCATTGTTTTTGTGCCTTAGAAGCTACTTAGACATGGGCTACCCCAGAATCCTAGGCCCTATTTGTGAACCTTCCTCAAAGAGCCTATGCAAGTCTGTGGATAGAAGTAGTACTTATAAGTGGCTTAGAGATAGGGGAAAGAACCCAGCTTCACTGAACATTTCAGAACAGCCACACTGGCCTGTCTGGTCCACTTCCTGGAGTACACAGAGGAATGATTTTTTGTGAAGTCTACATAGTCACCCAATCTCTTCATCCTGGGTCAGTACACAGTCTCCCCGGCCACATGGGTGCCTGGGAAACTGAGAGTGAGGCACCAGAAGTCTCTTTTCACTCATCAAATTCTCATTTTCTGGGTCTCTCAAATGTTTTCATGCTCTCAGGTATCTCTAAGGGACAGCAGTCTGGAGGCTGACCACGTTATTAGTGCCATTCCAGCTTCAGGTAATGGAATAGCCACCTTCCCCTTCCCCAACCCCTACCAGTGAGAAGCAAAAGCTATACCTTCCTGGGTCAGCAGGACCACACCATGCCCCTGAACTGGTCATCTCTATGGGAGTCTAATCCCAAAGAGGACTGACAACTGTAATGGGAATGCCTTCTGAGTCAGGCCTCTGCCTGATCTCTAGTGCTCAGTGAGCTGCTCCCTGCTGAGGCTGCCCCTCTGGCTCGTGCCCTGAGTGCCATCACTGCAGTGTCTGTAGCTGTGGTGAATCTGCAGTACCAAGGAGCCCATCTGCCTGTCCAGGTATGATAAAGGGACGGAGAGGCTGGGCATGGTGGCTCACACCTGTAATCCCAGCATTTTGGGAGGCCGAGGTGGGCAGATAACAAGGTCAGGAGTTCGAGACCAGCCTGGCCAACATGGTGAAACCCCATCTCTACGAAAAATACAAAAATTAGCCAGGTGTGGTGGCTTGCACCTGTAATCTCAGCTACTCGGGAGGCTAAGGCAGGAGAATCGCTTGAACCCAGGAGGTGGAGGTTGCAGTGAGCTGAGATCTCGCCATTACACTCCAGCCTGGGTGACAGAGTGAGACTCTGTCCCCCCCACCCCCCCAAAAAAATGGGAAGGAGAGACAGCCTCAGCTAGAGCCCTTTCCTTCTGACGCATGAATGTCCTTCTCTCCAGGGATTTGGACATTTGGTGCCATCTTCAGAAGATCCAGGAGTCCTGGGAATCGTGTATGCCTCAGTTGCTTTCCCTGAGCAGGACGGGAGCCCCCCTGGCCTCAGAGTGACTGTGAGGAGGAGGAAACTTTGCCTAGTGGCATTTCCAGAGGGCTCCTCTGTGCTCCATTGTAGGCAAGGCCAGACTGATCAGTGCTATATTCCCTCCTTAGGTGATGCTGGGAGGTTCCTGGTTACAGACACTGGAGGCTAGTGGCTGTGTCTTATCTCAGGAGCTGTTTCAACAGCGGGCCCAGGAAGCAGCTGCTACACAATTAGGACTGAAGGAGATGCCGAGCCACTGCTTGGTCCATCTACACAAGGTAAGTTGGGATAAACTTCCCTCAGCTCTCCACTGAAGGCCTTGAAGACAGAGACTGGAACATTTGTCACTGTATGTCAGCCAAGGCCTAGGACATCAATAATAAACTTTTCCCTGCATCCTCTCCTCTCTTCTCAGAACTGCATTCCCCAGTATACACTAGGTCACTGGCAAAAACTAGGTAAGTTGGGAAAACAGCTGGGCTGAGGAGGGCCAAGGACATCAGACCCCCAGCTAAAACATTCCTTTCATCCTTTCCTTCCAGAGTCAGCTAGGCAATTCCTGACTGCTCACAGGTTGCCCCTGACTCTGGCTGGAGCCTCCTATGAGGGAGTTGCTGTTAATGACTGTATAGAGAGTGGGCGCCAGGCAGCAGTCAGTGTCCTGGGCACAGAACCTAACAGCTGATCCCCAACTCTCATTCATGAAAATAAAAATTGCTGGAGCTTGGCTTGGTCTGGCTGTTCTATCACCTATAGGCATAAGAATGCGGGGCAGCAAAGAGGCAAAGTGTGCCTGGGATGCAGAAAGCAGGAGCAGATGCGAGACAAAGTCCTTTATTAGAAAATATATCAAAATCCCAGCCCCCTGAGCCAGGACCAGAAGAGGGAGCTATTCCAGCATAGGCAGAAAATGCCCAGGGAGGGGCTTCCTTCACCAAACAACTTCCCGGGAACCATAAATAGAATAAATATTCACAGAGGTCCGAGGAGAAGCCAGATCACTCTTCTCTCCATGGAAGAGGGAGGGGCTTGGGGTCCAGCCCTGCTCCTACTCTAGGGGCAGGGACTCCTAGGAATCGTCACATAAAATCATGACATCAAGGATTCACAGTCATAAGCCCTACAGGAGACCCTAGAGAGAGGGACCCCTCAGGTCTACAGGAGCCCAGCTCCAGTCCAGCAGTGAGGGAGAGGCCCCTACCCCCTAGCACGGCACCAGAGTTCAGTTCCCTCACATCCCTCTGAGAACAGTGAGGAGCTGAGGGTGGGGAGAATACAACCCCATGAATTCGGTTTCATGATTAAGGTAGACAGGAAGGAGGAGTCAGTGTGAACCTCGGAGGGCTGTGTGGTTGGCAGTAGATAGAGGCCCAGGCCTGGCTGGGGGCCGGCGTTGCAGCATCTCTTGACGGAAGGCTTGGGAGGAACCAGGTGGGTAACGTGGCCCAGAAGGAGCCCGAGGACCCCGAGGGTCAGTCCCAATGTCTGCTGTGATGTTGGTATAAAGAGGCCCCAGCTCTCGAGCCAGCAACTGGTATGTCAGTGAGTTCATCCCATCTTGCGTCCAGGAATTCTGGGTACGGACCAGGAGGTCAAATCTGAGGGTTAGAGGTTGGAGACTAAGACCCAGAAAGGAACAGCCAGAAATCTAGGGACCTTTAGGATTTTCCTGGCTAGGGGTACAGAACCCTGAGGATCCAGTAACAATTCCCAGGCAGTCCTTCCTTCTTCCTACCTGTGGGGATTTTCCTCATTGCCCTTATCTCCTCGGTGCTTCACCATCTTATAGTGTCCTACAGATGTGGGGGGCCGAGAGATCTTCATCCCAGCCAGGCGCACCCTATGGGAAAAGTGAGGGTATCATGGGGGATCCAGAGTAGAGAAAAGCAAGGAAGGGATTAAATGTTTCTGTACACACAAAAAAACAACTATTACTTAGTAGGCAAAAGAAAAAAAAAGCCCAGGACAGAAGTCAAACAGAAAGAAGGAAATGGCTGAAGAGAATATAAAAGCTGGATGTATC
Task1_train_1990
This mutation is located in gene NDUFS2 (NADH:ubiquinone oxidoreductase core subunit S2) on Chromosome 1. Is it associated with a disease or is it a benign polymorphism?
Pathogenic; not provided
ATCCAGCCCAGTGTCGGGGTGAACAGTGACTAGAATGTGATTCCCCAAGAGAGCCTCGGCGATGACAGTTTCTGGTCCTGGAGTCTATGGGTTAACCCCTGTAGCATTAGCCCCCGTCACAGTGACATCAGAATAAGAACAGGCTGTCCCAGCTAGTAGCGTCTTAGCTCCACCCTCTTCCTGGAAGCTGAAGCTGGTTCAGCAGACAGCTAGGACTTGGCTTTTTGGCATTCTGGAGGAAGGACCATTTCTACCTGATGCTCTGTCTTCCTTAAATACCTCACTCTGGCCGGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGTCGAAGCAGGTGGATTACTTGAGGTCAGGAGTTTGAGACCAGCCTGGCCAACAAGGTGAAACCCCATCTCTACTAAAAATACAAAAATTAGCCAGACGTGGTGGTGTGCGCCTGTAGGAGAATCACTTGAACCTGGGAGGCAGAGGTTGCAGTGAGCCAAGATGGTGCTACTGCACTCCAGCGCCTGGGCAACAGAGCAAGACTGTGTCTCAAAAAAAAAAAAGATTAAAAAAAAAAACCCTCCCAGATACTCTTAAGACTGATTGCCTTTCTCCTTCAGTATCTGAAGTTTTTTGTTTGTTTTGTTTTTTTCCCTACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGTGATCTTGGCTCACTGCAACCTCTGCCTCCCGAGTTTAAGCAATTCTGTTTCAGCCCCCAGAGTAGCCAGGATTATAGGCACGCACCACCATGCCTGGCTAATTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTTTCACTCTTGTTGCCCAGGCTGGAGTGCAATAGTGTGATCTTGGCTCACTGCAAACTCCACCTCCCAGGTTCAAGCGAGTCTCGTTCCTCAGCCTCCCAAATAGCTGGGATTACAGGTACTCACCACCACGCCCAGCTAATTTCTATATTTTTAGTAGAGATGGGGTTTCACCATGTTGGCCAGGCTGGTCTCAAACTCCTGACCTCATGAGCCACCCTGACTTGGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACCGCGCCTGACCAGTATGTCAGTTTTTTAAATTTTTATTATTTTTTGAGATGGAGTTTTGCTCTTGTTGCCTAGGCTAGAATGCAGTGGCATAGTCTTGTCTCACTGCAACCTCTGCTTCCTGGGTTCAAGTGATTTTCCTGCCTCAGCCTCCCAAGTAGCTGGGATTACAGGCATGCACCACCACGCCCTGCTAATTTTGTATTTTTAGTAGAGAAGGGGTTTCTCCATGTTGGTCAGGCTGGTCTCAAACTCCTGACCTCAGGTGATCTACCCGCCTCGGCCTCCCAAAGTGTTGGGATTACAGGCGTGAGCCACGTGCCCGGCCAAGGACTCTTGACAGTGGTATCCTGGAGCTAGCTCATACGGGCTTGCAAGAGTGCAGTTGTTAAATTTTCAGGAGTTTTGTGAGCCAGTTGTTGAACATAGCCATTGTCAGAAATTAATTTATATAAGCTTATGATTTAATACATTATATTAAAAGCAAAGGTAAGATTAAATATTCAAAGCTCATCACTTCATTATTTTACCACATTTTACTATGCTCTGCCTTTGAGGTATTTGCTTTGAATGTGTCTGTATGGTGGAAATACTGTATAATGGTGTGGTATTCTTCCCAATGCTGCATTCAGTTACATGATATTGGTAACTTAAAATTGGCCATTGTGGGAGTATTTTTACCATGGAAATTGGCAAACATGACAAATCAGAGTCCTCCCTCACTTTGGAGAGCCAGTTTTTAAACATTTACTAGAATACTACTGGTTTTTGGGATATTTTTACCTGCCTTGTTGGGGCTCCTGAGACTAGAAAGGCTTATACAGCACCAACTTCTGGTGCCGACTGAGAGCAAGGCTTCAGGCAGCCAGACTGTGGGCTCCTGAGCCTGTTAGATGTGACCCACATTCCTCCCTCTTCCCAGGCCCTTCCATACTTTGACCGGCTAGACTATGTGTCCATGATGTGTAACGAACAGGCCTATTCTCTAGCTGTGGAGAAGTTGCTAAACATCCGGCCTCCTCCTCGGGCACAGTGGATCCGAGGTATGTCCCCCCAACTTTTTCTGTGGCCCACTGTGAGCATAGCATAGTGCCTTTTCCACCACTTCCCCGTTGAACCCAAGCTTAGTGTTCAGACCCCAGGCTCTGCCCAGACCTCTCTGTCCGCCTCAGTGCTTGGCTCCTATATCCTGTCTTCTCCTTGTCTTCACAGTGCTGTTTGGAGAAATCACACGTTTGTTGAACCACATCATGGCTGTGACCACACATGCCCTGGACCTTGGGGCCATGACCCCTTTCTTCTGGCTGTTTGAAGAAAGGGAGAAGGTAAGAGTGGGAGGAAAGGATAGGAATAGGGAAGGAAGTGCAGGAAGTAGAGAAGGTATAAAGGAGACAGGAGATTAAAAGAAGAGAGAGAACATGGGAGAACATTTAGAGGGGGAAGGTATGTTTAACTTGGGTTATATTTGTAGAAACTATATCATGAGGGGTTGGTTGGGCACAAGAAGGCAGAAAGTGGGGGAGTAGGCCATCATAGGACCTGGGGGCCTGGGACTTTGACACTAATTCCCAGCACGTTCTATGAAGATGTTTGAGTTCTACGAGCGAGTGTCTGGAGCCCGAATGCATGCTGCTTATATCCGGCCAGGAGGAGTGCACCAGGTGAGCAGGTCCCCGGCTTCCCCAAATGTCCAGCCCAGGCCTATTTTCCCTGTGGCCACTGGAGGGCAGTGCTGGATGATGGAAACTCCAAACCTGTATCGCTGGGGGAGGGGGTGCTGAGAGGGCTCTCCTTAGTGAAGGCTATGCCACATTCAGTAGCACTTCCGTTTGGCTTCTAGGACCTACCCCTTGGGCTTATGGATGACATTTATCAGTTTTCTAAGAACTTCTCTCTTCGGCTTGATGAGTTGGAGGAGGTAAGCTAGGAGTCAATGGGAAAAATCTCTCCCCCACAAGAAGGGCTAGAGAAATACAGAGATATTTGAAGAGTGTGAGGAAGAGTATTAACACACCAGTTTTCTTGATCAATAGTTGCTGACCAACAATAGGATCTGGCGAAATCGGACAATTGACATTGGGGTTGTAACAGCAGAAGAAGCACTTAACTATGGTTTTAGGTGAGGGGAATACAACTTCTCTCCGTAGGAGTGGGGGTGGGAGTGGGGGAGTTCCAGCCTAATATCTTGTCTTTGAAGACTTGTTGGCATCCTCCTAGTCATACCCTGAATGTGAAGGATCAACAAGGGAGGCTAAGGAAGAAGGAGCCTCCTTACTTAGTTTGTGGAGAGTGGCCCTTATTCCCATTATGCTCTCCACAGTGGAGTGATGCTTCGGGGCTCAGGCATCCAGTGGGACCTGCGGAAGACCCAGCCCTATGATGTTTACGACCAGGTTGAGTTTGATGTTCCTGTTGGTTCTCGAGGGGACTGCTATGATAGGTAAGGCCCCAATCCTTTCTTGGCTGATATTCCAGCTAGTTTCCCCTGCCTCACTCTTCTCTTTGCCACTTCCTTCTTTACCCTACTTCTCAGTGTCTGTGGGAGCTCTTGTGTGTGTTAGACGAGGTTGCTCTCAAAACACTTTCACATATATGGAATCTTACTTATTTTTTTCTTTTTTGAGACGGAGTTTTGCTCTTGTTGCCCAGGTTGGAATGCAATGGTGCAATCTCGGCTCACTGCAACCTCCGCCTCCTGGGTTCAAGTGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGCATGAGCCACCACGCTCAGCTAATTTATGTATTTTTAGTAGAGACGGGATTTCTCCATGTTGGTCAGGCTGGTCTCAAGCTCCTGACCTCAGGTGATCTACCCGCCTCGGCCTCCAAAATTGTTGGGATTATAGGCGTGAGCCACCACACCCGGCCTATGGCATTCTTTTTATCTTTACATTATCCTTGTCTTAGATGGAGCTAGCTTTGGCTGCATTTTATAGCTGAGAAAGCTGAGGCATAAAAGTTAGGGATTAGCTGGGATTATTC
ATCCAGCCCAGTGTCGGGGTGAACAGTGACTAGAATGTGATTCCCCAAGAGAGCCTCGGCGATGACAGTTTCTGGTCCTGGAGTCTATGGGTTAACCCCTGTAGCATTAGCCCCCGTCACAGTGACATCAGAATAAGAACAGGCTGTCCCAGCTAGTAGCGTCTTAGCTCCACCCTCTTCCTGGAAGCTGAAGCTGGTTCAGCAGACAGCTAGGACTTGGCTTTTTGGCATTCTGGAGGAAGGACCATTTCTACCTGATGCTCTGTCTTCCTTAAATACCTCACTCTGGCCGGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGTCGAAGCAGGTGGATTACTTGAGGTCAGGAGTTTGAGACCAGCCTGGCCAACAAGGTGAAACCCCATCTCTACTAAAAATACAAAAATTAGCCAGACGTGGTGGTGTGCGCCTGTAGGAGAATCACTTGAACCTGGGAGGCAGAGGTTGCAGTGAGCCAAGATGGTGCTACTGCACTCCAGCGCCTGGGCAACAGAGCAAGACTGTGTCTCAAAAAAAAAAAAGATTAAAAAAAAAAACCCTCCCAGATACTCTTAAGACTGATTGCCTTTCTCCTTCAGTATCTGAAGTTTTTTGTTTGTTTTGTTTTTTTCCCTACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGTGATCTTGGCTCACTGCAACCTCTGCCTCCCGAGTTTAAGCAATTCTGTTTCAGCCCCCAGAGTAGCCAGGATTATAGGCACGCACCACCATGCCTGGCTAATTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTTTCACTCTTGTTGCCCAGGCTGGAGTGCAATAGTGTGATCTTGGCTCACTGCAAACTCCACCTCCCAGGTTCAAGCGAGTCTCGTTCCTCAGCCTCCCAAATAGCTGGGATTACAGGTACTCACCACCACGCCCAGCTAATTTCTATATTTTTAGTAGAGATGGGGTTTCACCATGTTGGCCAGGCTGGTCTCAAACTCCTGACCTCATGAGCCACCCTGACTTGGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACCGCGCCTGACCAGTATGTCAGTTTTTTAAATTTTTATTATTTTTTGAGATGGAGTTTTGCTCTTGTTGCCTAGGCTAGAATGCAGTGGCATAGTCTTGTCTCACTGCAACCTCTGCTTCCTGGGTTCAAGTGATTTTCCTGCCTCAGCCTCCCAAGTAGCTGGGATTACAGGCATGCACCACCACGCCCTGCTAATTTTGTATTTTTAGTAGAGAAGGGGTTTCTCCATGTTGGTCAGGCTGGTCTCAAACTCCTGACCTCAGGTGATCTACCCGCCTCGGCCTCCCAAAGTGTTGGGATTACAGGCGTGAGCCACGTGCCCGGCCAAGGACTCTTGACAGTGGTATCCTGGAGCTAGCTCATACGGGCTTGCAAGAGTGCAGTTGTTAAATTTTCAGGAGTTTTGTGAGCCAGTTGTTGAACATAGCCATTGTCAGAAATTAATTTATATAAGCTTATGATTTAATACATTATATTAAAAGCAAAGGTAAGATTAAATATTCAAAGCTCATCACTTCATTATTTTACCACATTTTACTATGCTCTGCCTTTGAGGTATTTGCTTTGAATGTGTCTGTATGGTGGAAATACTGTATAATGGTGTGGTATTCTTCCCAATGCTGCATTCAGTTACATGATATTGGTAACTTAAAATTGGCCATTGTGGGAGTATTTTTACCATGGAAATTGGCAAACATGACAAATCAGAGTCCTCCCTCACTTTGGAGAGCCAGTTTTTAAACATTTACTAGAATACTACTGGTTTTTGGGATATTTTTACCTGCCTTGTTGGGGCTCCTGAGACTAGAAAGGCTTATACAGCACCAACTTCTGGTGCCGACTGAGAGCAAGGCTTCAGGCAGCCAGACTGTGGGCTCCTGAGCCTGTTAGATGTGACCCACATTCCTCCCTCTTCCCAGGCCCTTCCATACTTTGACCGGCTAGACTATGTGTCCATGATGTGTAACAAACAGGCCTATTCTCTAGCTGTGGAGAAGTTGCTAAACATCCGGCCTCCTCCTCGGGCACAGTGGATCCGAGGTATGTCCCCCCAACTTTTTCTGTGGCCCACTGTGAGCATAGCATAGTGCCTTTTCCACCACTTCCCCGTTGAACCCAAGCTTAGTGTTCAGACCCCAGGCTCTGCCCAGACCTCTCTGTCCGCCTCAGTGCTTGGCTCCTATATCCTGTCTTCTCCTTGTCTTCACAGTGCTGTTTGGAGAAATCACACGTTTGTTGAACCACATCATGGCTGTGACCACACATGCCCTGGACCTTGGGGCCATGACCCCTTTCTTCTGGCTGTTTGAAGAAAGGGAGAAGGTAAGAGTGGGAGGAAAGGATAGGAATAGGGAAGGAAGTGCAGGAAGTAGAGAAGGTATAAAGGAGACAGGAGATTAAAAGAAGAGAGAGAACATGGGAGAACATTTAGAGGGGGAAGGTATGTTTAACTTGGGTTATATTTGTAGAAACTATATCATGAGGGGTTGGTTGGGCACAAGAAGGCAGAAAGTGGGGGAGTAGGCCATCATAGGACCTGGGGGCCTGGGACTTTGACACTAATTCCCAGCACGTTCTATGAAGATGTTTGAGTTCTACGAGCGAGTGTCTGGAGCCCGAATGCATGCTGCTTATATCCGGCCAGGAGGAGTGCACCAGGTGAGCAGGTCCCCGGCTTCCCCAAATGTCCAGCCCAGGCCTATTTTCCCTGTGGCCACTGGAGGGCAGTGCTGGATGATGGAAACTCCAAACCTGTATCGCTGGGGGAGGGGGTGCTGAGAGGGCTCTCCTTAGTGAAGGCTATGCCACATTCAGTAGCACTTCCGTTTGGCTTCTAGGACCTACCCCTTGGGCTTATGGATGACATTTATCAGTTTTCTAAGAACTTCTCTCTTCGGCTTGATGAGTTGGAGGAGGTAAGCTAGGAGTCAATGGGAAAAATCTCTCCCCCACAAGAAGGGCTAGAGAAATACAGAGATATTTGAAGAGTGTGAGGAAGAGTATTAACACACCAGTTTTCTTGATCAATAGTTGCTGACCAACAATAGGATCTGGCGAAATCGGACAATTGACATTGGGGTTGTAACAGCAGAAGAAGCACTTAACTATGGTTTTAGGTGAGGGGAATACAACTTCTCTCCGTAGGAGTGGGGGTGGGAGTGGGGGAGTTCCAGCCTAATATCTTGTCTTTGAAGACTTGTTGGCATCCTCCTAGTCATACCCTGAATGTGAAGGATCAACAAGGGAGGCTAAGGAAGAAGGAGCCTCCTTACTTAGTTTGTGGAGAGTGGCCCTTATTCCCATTATGCTCTCCACAGTGGAGTGATGCTTCGGGGCTCAGGCATCCAGTGGGACCTGCGGAAGACCCAGCCCTATGATGTTTACGACCAGGTTGAGTTTGATGTTCCTGTTGGTTCTCGAGGGGACTGCTATGATAGGTAAGGCCCCAATCCTTTCTTGGCTGATATTCCAGCTAGTTTCCCCTGCCTCACTCTTCTCTTTGCCACTTCCTTCTTTACCCTACTTCTCAGTGTCTGTGGGAGCTCTTGTGTGTGTTAGACGAGGTTGCTCTCAAAACACTTTCACATATATGGAATCTTACTTATTTTTTTCTTTTTTGAGACGGAGTTTTGCTCTTGTTGCCCAGGTTGGAATGCAATGGTGCAATCTCGGCTCACTGCAACCTCCGCCTCCTGGGTTCAAGTGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGCATGAGCCACCACGCTCAGCTAATTTATGTATTTTTAGTAGAGACGGGATTTCTCCATGTTGGTCAGGCTGGTCTCAAGCTCCTGACCTCAGGTGATCTACCCGCCTCGGCCTCCAAAATTGTTGGGATTATAGGCGTGAGCCACCACACCCGGCCTATGGCATTCTTTTTATCTTTACATTATCCTTGTCTTAGATGGAGCTAGCTTTGGCTGCATTTTATAGCTGAGAAAGCTGAGGCATAAAAGTTAGGGATTAGCTGGGATTATTC
Task1_train_1991
A variant affecting Chromosome 1, within the gene NDUFS2 (NADH:ubiquinone oxidoreductase core subunit S2), has been observed. Determine if it's benign or associated with disease.
Pathogenic; not provided
GTGCAGTGGCGTGATCTTGGCTCACTGCAACCTCTGCCTCCCGAGTTTAAGCAATTCTGTTTCAGCCCCCAGAGTAGCCAGGATTATAGGCACGCACCACCATGCCTGGCTAATTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTTTCACTCTTGTTGCCCAGGCTGGAGTGCAATAGTGTGATCTTGGCTCACTGCAAACTCCACCTCCCAGGTTCAAGCGAGTCTCGTTCCTCAGCCTCCCAAATAGCTGGGATTACAGGTACTCACCACCACGCCCAGCTAATTTCTATATTTTTAGTAGAGATGGGGTTTCACCATGTTGGCCAGGCTGGTCTCAAACTCCTGACCTCATGAGCCACCCTGACTTGGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACCGCGCCTGACCAGTATGTCAGTTTTTTAAATTTTTATTATTTTTTGAGATGGAGTTTTGCTCTTGTTGCCTAGGCTAGAATGCAGTGGCATAGTCTTGTCTCACTGCAACCTCTGCTTCCTGGGTTCAAGTGATTTTCCTGCCTCAGCCTCCCAAGTAGCTGGGATTACAGGCATGCACCACCACGCCCTGCTAATTTTGTATTTTTAGTAGAGAAGGGGTTTCTCCATGTTGGTCAGGCTGGTCTCAAACTCCTGACCTCAGGTGATCTACCCGCCTCGGCCTCCCAAAGTGTTGGGATTACAGGCGTGAGCCACGTGCCCGGCCAAGGACTCTTGACAGTGGTATCCTGGAGCTAGCTCATACGGGCTTGCAAGAGTGCAGTTGTTAAATTTTCAGGAGTTTTGTGAGCCAGTTGTTGAACATAGCCATTGTCAGAAATTAATTTATATAAGCTTATGATTTAATACATTATATTAAAAGCAAAGGTAAGATTAAATATTCAAAGCTCATCACTTCATTATTTTACCACATTTTACTATGCTCTGCCTTTGAGGTATTTGCTTTGAATGTGTCTGTATGGTGGAAATACTGTATAATGGTGTGGTATTCTTCCCAATGCTGCATTCAGTTACATGATATTGGTAACTTAAAATTGGCCATTGTGGGAGTATTTTTACCATGGAAATTGGCAAACATGACAAATCAGAGTCCTCCCTCACTTTGGAGAGCCAGTTTTTAAACATTTACTAGAATACTACTGGTTTTTGGGATATTTTTACCTGCCTTGTTGGGGCTCCTGAGACTAGAAAGGCTTATACAGCACCAACTTCTGGTGCCGACTGAGAGCAAGGCTTCAGGCAGCCAGACTGTGGGCTCCTGAGCCTGTTAGATGTGACCCACATTCCTCCCTCTTCCCAGGCCCTTCCATACTTTGACCGGCTAGACTATGTGTCCATGATGTGTAACGAACAGGCCTATTCTCTAGCTGTGGAGAAGTTGCTAAACATCCGGCCTCCTCCTCGGGCACAGTGGATCCGAGGTATGTCCCCCCAACTTTTTCTGTGGCCCACTGTGAGCATAGCATAGTGCCTTTTCCACCACTTCCCCGTTGAACCCAAGCTTAGTGTTCAGACCCCAGGCTCTGCCCAGACCTCTCTGTCCGCCTCAGTGCTTGGCTCCTATATCCTGTCTTCTCCTTGTCTTCACAGTGCTGTTTGGAGAAATCACACGTTTGTTGAACCACATCATGGCTGTGACCACACATGCCCTGGACCTTGGGGCCATGACCCCTTTCTTCTGGCTGTTTGAAGAAAGGGAGAAGGTAAGAGTGGGAGGAAAGGATAGGAATAGGGAAGGAAGTGCAGGAAGTAGAGAAGGTATAAAGGAGACAGGAGATTAAAAGAAGAGAGAGAACATGGGAGAACATTTAGAGGGGGAAGGTATGTTTAACTTGGGTTATATTTGTAGAAACTATATCATGAGGGGTTGGTTGGGCACAAGAAGGCAGAAAGTGGGGGAGTAGGCCATCATAGGACCTGGGGGCCTGGGACTTTGACACTAATTCCCAGCACGTTCTATGAAGATGTTTGAGTTCTACGAGCGAGTGTCTGGAGCCCGAATGCATGCTGCTTATATCCGGCCAGGAGGAGTGCACCAGGTGAGCAGGTCCCCGGCTTCCCCAAATGTCCAGCCCAGGCCTATTTTCCCTGTGGCCACTGGAGGGCAGTGCTGGATGATGGAAACTCCAAACCTGTATCGCTGGGGGAGGGGGTGCTGAGAGGGCTCTCCTTAGTGAAGGCTATGCCACATTCAGTAGCACTTCCGTTTGGCTTCTAGGACCTACCCCTTGGGCTTATGGATGACATTTATCAGTTTTCTAAGAACTTCTCTCTTCGGCTTGATGAGTTGGAGGAGGTAAGCTAGGAGTCAATGGGAAAAATCTCTCCCCCACAAGAAGGGCTAGAGAAATACAGAGATATTTGAAGAGTGTGAGGAAGAGTATTAACACACCAGTTTTCTTGATCAATAGTTGCTGACCAACAATAGGATCTGGCGAAATCGGACAATTGACATTGGGGTTGTAACAGCAGAAGAAGCACTTAACTATGGTTTTAGGTGAGGGGAATACAACTTCTCTCCGTAGGAGTGGGGGTGGGAGTGGGGGAGTTCCAGCCTAATATCTTGTCTTTGAAGACTTGTTGGCATCCTCCTAGTCATACCCTGAATGTGAAGGATCAACAAGGGAGGCTAAGGAAGAAGGAGCCTCCTTACTTAGTTTGTGGAGAGTGGCCCTTATTCCCATTATGCTCTCCACAGTGGAGTGATGCTTCGGGGCTCAGGCATCCAGTGGGACCTGCGGAAGACCCAGCCCTATGATGTTTACGACCAGGTTGAGTTTGATGTTCCTGTTGGTTCTCGAGGGGACTGCTATGATAGGTAAGGCCCCAATCCTTTCTTGGCTGATATTCCAGCTAGTTTCCCCTGCCTCACTCTTCTCTTTGCCACTTCCTTCTTTACCCTACTTCTCAGTGTCTGTGGGAGCTCTTGTGTGTGTTAGACGAGGTTGCTCTCAAAACACTTTCACATATATGGAATCTTACTTATTTTTTTCTTTTTTGAGACGGAGTTTTGCTCTTGTTGCCCAGGTTGGAATGCAATGGTGCAATCTCGGCTCACTGCAACCTCCGCCTCCTGGGTTCAAGTGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGCATGAGCCACCACGCTCAGCTAATTTATGTATTTTTAGTAGAGACGGGATTTCTCCATGTTGGTCAGGCTGGTCTCAAGCTCCTGACCTCAGGTGATCTACCCGCCTCGGCCTCCAAAATTGTTGGGATTATAGGCGTGAGCCACCACACCCGGCCTATGGCATTCTTTTTATCTTTACATTATCCTTGTCTTAGATGGAGCTAGCTTTGGCTGCATTTTATAGCTGAGAAAGCTGAGGCATAAAAGTTAGGGATTAGCTGGGATTATTCTTCAGGAGTGGTCGAGACTAGAATCCTCCTGATCCAGTGTTCTTTCTAGTAGATCCTAAGCTTCAGATTCTCCTCCTGGGCCAGGCACAGTGGCTCATGTGTGTAATCCCAGCATTTTGGGAGTCCAAGGTGGGTGGATCACTTGAGGTCAGGAATTCAAGACCAGCCTGGCCAACATGGTGAAACCCCATCTCTACTAAAAATACAAAAAATTAGCTGGGTGTGGTGGTACATGCCTGTAAGTCCAGCTACTTGGGAGGCTGAGGAAGGAGAGTTGCTTGAATCTAGGAGGTGAAGGATGCAGTGAGCTGAGATGGAGCCACTGCATTCCAGCCTGGGCGACAGAGCGAGACTCTGTCTCAAAAAAACAAAAAACGAAAACCAAAAACAAATTCTCCTCCTGTTTTCTCACCCTGAGTCAGATTTGTTACTGTGTATTGTTTTTTTTATTTTTGTTTGTTTTATTTTTTGAACCTGGTAGCTACTGCTGTTATTTTTGTTTGTCCATTTGACTCTCACCCATCCTGTGGTCCAAAAAGTGCTTAAGGAGGTAATTAAAGAAATAAATACTACAGGCCATGTTCTGAGAAAATAAGGAGAGGGTTTGGGGAAGCACCCAAGAGTAGAAGCAAACGATTACAGGGGGCTGGGGTTGGTGGCTCATGCCTATA
GTGCAGTGGCGTGATCTTGGCTCACTGCAACCTCTGCCTCCCGAGTTTAAGCAATTCTGTTTCAGCCCCCAGAGTAGCCAGGATTATAGGCACGCACCACCATGCCTGGCTAATTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTTTCACTCTTGTTGCCCAGGCTGGAGTGCAATAGTGTGATCTTGGCTCACTGCAAACTCCACCTCCCAGGTTCAAGCGAGTCTCGTTCCTCAGCCTCCCAAATAGCTGGGATTACAGGTACTCACCACCACGCCCAGCTAATTTCTATATTTTTAGTAGAGATGGGGTTTCACCATGTTGGCCAGGCTGGTCTCAAACTCCTGACCTCATGAGCCACCCTGACTTGGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACCGCGCCTGACCAGTATGTCAGTTTTTTAAATTTTTATTATTTTTTGAGATGGAGTTTTGCTCTTGTTGCCTAGGCTAGAATGCAGTGGCATAGTCTTGTCTCACTGCAACCTCTGCTTCCTGGGTTCAAGTGATTTTCCTGCCTCAGCCTCCCAAGTAGCTGGGATTACAGGCATGCACCACCACGCCCTGCTAATTTTGTATTTTTAGTAGAGAAGGGGTTTCTCCATGTTGGTCAGGCTGGTCTCAAACTCCTGACCTCAGGTGATCTACCCGCCTCGGCCTCCCAAAGTGTTGGGATTACAGGCGTGAGCCACGTGCCCGGCCAAGGACTCTTGACAGTGGTATCCTGGAGCTAGCTCATACGGGCTTGCAAGAGTGCAGTTGTTAAATTTTCAGGAGTTTTGTGAGCCAGTTGTTGAACATAGCCATTGTCAGAAATTAATTTATATAAGCTTATGATTTAATACATTATATTAAAAGCAAAGGTAAGATTAAATATTCAAAGCTCATCACTTCATTATTTTACCACATTTTACTATGCTCTGCCTTTGAGGTATTTGCTTTGAATGTGTCTGTATGGTGGAAATACTGTATAATGGTGTGGTATTCTTCCCAATGCTGCATTCAGTTACATGATATTGGTAACTTAAAATTGGCCATTGTGGGAGTATTTTTACCATGGAAATTGGCAAACATGACAAATCAGAGTCCTCCCTCACTTTGGAGAGCCAGTTTTTAAACATTTACTAGAATACTACTGGTTTTTGGGATATTTTTACCTGCCTTGTTGGGGCTCCTGAGACTAGAAAGGCTTATACAGCACCAACTTCTGGTGCCGACTGAGAGCAAGGCTTCAGGCAGCCAGACTGTGGGCTCCTGAGCCTGTTAGATGTGACCCACATTCCTCCCTCTTCCCAGGCCCTTCCATACTTTGACCGGCTAGACTATGTGTCCATGATGTGTAACGAACAGGCCTATTCTCTAGCTGTGGAGAAGTTGCTAAACATCCGGCCTCCTCCTCGGGCACAGTGGATCCGAGGTATGTCCCCCCAACTTTTTCTGTGGCCCACTGTGAGCATAGCATAGTGCCTTTTCCACCACTTCCCCGTTGAACCCAAGCTTAGTGTTCAGACCCCAGGCTCTGCCCAGACCTCTCTGTCCGCCTCAGTGCTTGGCTCCTATATCCTGTCTTCTCCTTGTCTTCACAGTGCTGTTTGGAGAAATCACACGTTTGTTGAACCACATCATGGCTGTGACCACACATGCCCTGGACCTTGGGGCCATGACCCCTTTCTTCTGGCTGTTTGAAGAAAGGGAGAAGGTAAGAGTGGGAGGAAAGGATAGGAATAGGGAAGGAAGTGCAGGAAGTAGAGAAGGTATAAAGGAGACAGGAGATTAAAAGAAGAGAGAGAACATGGGAGAACATTTAGAGGGGGAAGGTATGTTTAACTTGGGTTATATTTGTAGAAACTATATCATGAGGGGTTGGTTGGGCACAAGAAGGCAGAAAGTGGGGGAGTAGGCCATCATAGGACCTGGGGGCCTGGGACTTTGACACTAATTCCCAGCACGTTCTATGAAGATGTTTGAGTTCTACGAGCGAGTGTCTGGAGCCCGAATGCATGCTGCTTATATCCAGCCAGGAGGAGTGCACCAGGTGAGCAGGTCCCCGGCTTCCCCAAATGTCCAGCCCAGGCCTATTTTCCCTGTGGCCACTGGAGGGCAGTGCTGGATGATGGAAACTCCAAACCTGTATCGCTGGGGGAGGGGGTGCTGAGAGGGCTCTCCTTAGTGAAGGCTATGCCACATTCAGTAGCACTTCCGTTTGGCTTCTAGGACCTACCCCTTGGGCTTATGGATGACATTTATCAGTTTTCTAAGAACTTCTCTCTTCGGCTTGATGAGTTGGAGGAGGTAAGCTAGGAGTCAATGGGAAAAATCTCTCCCCCACAAGAAGGGCTAGAGAAATACAGAGATATTTGAAGAGTGTGAGGAAGAGTATTAACACACCAGTTTTCTTGATCAATAGTTGCTGACCAACAATAGGATCTGGCGAAATCGGACAATTGACATTGGGGTTGTAACAGCAGAAGAAGCACTTAACTATGGTTTTAGGTGAGGGGAATACAACTTCTCTCCGTAGGAGTGGGGGTGGGAGTGGGGGAGTTCCAGCCTAATATCTTGTCTTTGAAGACTTGTTGGCATCCTCCTAGTCATACCCTGAATGTGAAGGATCAACAAGGGAGGCTAAGGAAGAAGGAGCCTCCTTACTTAGTTTGTGGAGAGTGGCCCTTATTCCCATTATGCTCTCCACAGTGGAGTGATGCTTCGGGGCTCAGGCATCCAGTGGGACCTGCGGAAGACCCAGCCCTATGATGTTTACGACCAGGTTGAGTTTGATGTTCCTGTTGGTTCTCGAGGGGACTGCTATGATAGGTAAGGCCCCAATCCTTTCTTGGCTGATATTCCAGCTAGTTTCCCCTGCCTCACTCTTCTCTTTGCCACTTCCTTCTTTACCCTACTTCTCAGTGTCTGTGGGAGCTCTTGTGTGTGTTAGACGAGGTTGCTCTCAAAACACTTTCACATATATGGAATCTTACTTATTTTTTTCTTTTTTGAGACGGAGTTTTGCTCTTGTTGCCCAGGTTGGAATGCAATGGTGCAATCTCGGCTCACTGCAACCTCCGCCTCCTGGGTTCAAGTGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGCATGAGCCACCACGCTCAGCTAATTTATGTATTTTTAGTAGAGACGGGATTTCTCCATGTTGGTCAGGCTGGTCTCAAGCTCCTGACCTCAGGTGATCTACCCGCCTCGGCCTCCAAAATTGTTGGGATTATAGGCGTGAGCCACCACACCCGGCCTATGGCATTCTTTTTATCTTTACATTATCCTTGTCTTAGATGGAGCTAGCTTTGGCTGCATTTTATAGCTGAGAAAGCTGAGGCATAAAAGTTAGGGATTAGCTGGGATTATTCTTCAGGAGTGGTCGAGACTAGAATCCTCCTGATCCAGTGTTCTTTCTAGTAGATCCTAAGCTTCAGATTCTCCTCCTGGGCCAGGCACAGTGGCTCATGTGTGTAATCCCAGCATTTTGGGAGTCCAAGGTGGGTGGATCACTTGAGGTCAGGAATTCAAGACCAGCCTGGCCAACATGGTGAAACCCCATCTCTACTAAAAATACAAAAAATTAGCTGGGTGTGGTGGTACATGCCTGTAAGTCCAGCTACTTGGGAGGCTGAGGAAGGAGAGTTGCTTGAATCTAGGAGGTGAAGGATGCAGTGAGCTGAGATGGAGCCACTGCATTCCAGCCTGGGCGACAGAGCGAGACTCTGTCTCAAAAAAACAAAAAACGAAAACCAAAAACAAATTCTCCTCCTGTTTTCTCACCCTGAGTCAGATTTGTTACTGTGTATTGTTTTTTTTATTTTTGTTTGTTTTATTTTTTGAACCTGGTAGCTACTGCTGTTATTTTTGTTTGTCCATTTGACTCTCACCCATCCTGTGGTCCAAAAAGTGCTTAAGGAGGTAATTAAAGAAATAAATACTACAGGCCATGTTCTGAGAAAATAAGGAGAGGGTTTGGGGAAGCACCCAAGAGTAGAAGCAAACGATTACAGGGGGCTGGGGTTGGTGGCTCATGCCTATA
Task1_train_1992
A variant affecting Chromosome 1, within the gene NDUFS2 (NADH:ubiquinone oxidoreductase core subunit S2), has been observed. Determine if it's benign or associated with disease.
Pathogenic; Mitochondrial complex 1 deficiency, nuclear type 6
CAGTGGCGTGATCTTGGCTCACTGCAACCTCTGCCTCCCGAGTTTAAGCAATTCTGTTTCAGCCCCCAGAGTAGCCAGGATTATAGGCACGCACCACCATGCCTGGCTAATTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTTTCACTCTTGTTGCCCAGGCTGGAGTGCAATAGTGTGATCTTGGCTCACTGCAAACTCCACCTCCCAGGTTCAAGCGAGTCTCGTTCCTCAGCCTCCCAAATAGCTGGGATTACAGGTACTCACCACCACGCCCAGCTAATTTCTATATTTTTAGTAGAGATGGGGTTTCACCATGTTGGCCAGGCTGGTCTCAAACTCCTGACCTCATGAGCCACCCTGACTTGGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACCGCGCCTGACCAGTATGTCAGTTTTTTAAATTTTTATTATTTTTTGAGATGGAGTTTTGCTCTTGTTGCCTAGGCTAGAATGCAGTGGCATAGTCTTGTCTCACTGCAACCTCTGCTTCCTGGGTTCAAGTGATTTTCCTGCCTCAGCCTCCCAAGTAGCTGGGATTACAGGCATGCACCACCACGCCCTGCTAATTTTGTATTTTTAGTAGAGAAGGGGTTTCTCCATGTTGGTCAGGCTGGTCTCAAACTCCTGACCTCAGGTGATCTACCCGCCTCGGCCTCCCAAAGTGTTGGGATTACAGGCGTGAGCCACGTGCCCGGCCAAGGACTCTTGACAGTGGTATCCTGGAGCTAGCTCATACGGGCTTGCAAGAGTGCAGTTGTTAAATTTTCAGGAGTTTTGTGAGCCAGTTGTTGAACATAGCCATTGTCAGAAATTAATTTATATAAGCTTATGATTTAATACATTATATTAAAAGCAAAGGTAAGATTAAATATTCAAAGCTCATCACTTCATTATTTTACCACATTTTACTATGCTCTGCCTTTGAGGTATTTGCTTTGAATGTGTCTGTATGGTGGAAATACTGTATAATGGTGTGGTATTCTTCCCAATGCTGCATTCAGTTACATGATATTGGTAACTTAAAATTGGCCATTGTGGGAGTATTTTTACCATGGAAATTGGCAAACATGACAAATCAGAGTCCTCCCTCACTTTGGAGAGCCAGTTTTTAAACATTTACTAGAATACTACTGGTTTTTGGGATATTTTTACCTGCCTTGTTGGGGCTCCTGAGACTAGAAAGGCTTATACAGCACCAACTTCTGGTGCCGACTGAGAGCAAGGCTTCAGGCAGCCAGACTGTGGGCTCCTGAGCCTGTTAGATGTGACCCACATTCCTCCCTCTTCCCAGGCCCTTCCATACTTTGACCGGCTAGACTATGTGTCCATGATGTGTAACGAACAGGCCTATTCTCTAGCTGTGGAGAAGTTGCTAAACATCCGGCCTCCTCCTCGGGCACAGTGGATCCGAGGTATGTCCCCCCAACTTTTTCTGTGGCCCACTGTGAGCATAGCATAGTGCCTTTTCCACCACTTCCCCGTTGAACCCAAGCTTAGTGTTCAGACCCCAGGCTCTGCCCAGACCTCTCTGTCCGCCTCAGTGCTTGGCTCCTATATCCTGTCTTCTCCTTGTCTTCACAGTGCTGTTTGGAGAAATCACACGTTTGTTGAACCACATCATGGCTGTGACCACACATGCCCTGGACCTTGGGGCCATGACCCCTTTCTTCTGGCTGTTTGAAGAAAGGGAGAAGGTAAGAGTGGGAGGAAAGGATAGGAATAGGGAAGGAAGTGCAGGAAGTAGAGAAGGTATAAAGGAGACAGGAGATTAAAAGAAGAGAGAGAACATGGGAGAACATTTAGAGGGGGAAGGTATGTTTAACTTGGGTTATATTTGTAGAAACTATATCATGAGGGGTTGGTTGGGCACAAGAAGGCAGAAAGTGGGGGAGTAGGCCATCATAGGACCTGGGGGCCTGGGACTTTGACACTAATTCCCAGCACGTTCTATGAAGATGTTTGAGTTCTACGAGCGAGTGTCTGGAGCCCGAATGCATGCTGCTTATATCCGGCCAGGAGGAGTGCACCAGGTGAGCAGGTCCCCGGCTTCCCCAAATGTCCAGCCCAGGCCTATTTTCCCTGTGGCCACTGGAGGGCAGTGCTGGATGATGGAAACTCCAAACCTGTATCGCTGGGGGAGGGGGTGCTGAGAGGGCTCTCCTTAGTGAAGGCTATGCCACATTCAGTAGCACTTCCGTTTGGCTTCTAGGACCTACCCCTTGGGCTTATGGATGACATTTATCAGTTTTCTAAGAACTTCTCTCTTCGGCTTGATGAGTTGGAGGAGGTAAGCTAGGAGTCAATGGGAAAAATCTCTCCCCCACAAGAAGGGCTAGAGAAATACAGAGATATTTGAAGAGTGTGAGGAAGAGTATTAACACACCAGTTTTCTTGATCAATAGTTGCTGACCAACAATAGGATCTGGCGAAATCGGACAATTGACATTGGGGTTGTAACAGCAGAAGAAGCACTTAACTATGGTTTTAGGTGAGGGGAATACAACTTCTCTCCGTAGGAGTGGGGGTGGGAGTGGGGGAGTTCCAGCCTAATATCTTGTCTTTGAAGACTTGTTGGCATCCTCCTAGTCATACCCTGAATGTGAAGGATCAACAAGGGAGGCTAAGGAAGAAGGAGCCTCCTTACTTAGTTTGTGGAGAGTGGCCCTTATTCCCATTATGCTCTCCACAGTGGAGTGATGCTTCGGGGCTCAGGCATCCAGTGGGACCTGCGGAAGACCCAGCCCTATGATGTTTACGACCAGGTTGAGTTTGATGTTCCTGTTGGTTCTCGAGGGGACTGCTATGATAGGTAAGGCCCCAATCCTTTCTTGGCTGATATTCCAGCTAGTTTCCCCTGCCTCACTCTTCTCTTTGCCACTTCCTTCTTTACCCTACTTCTCAGTGTCTGTGGGAGCTCTTGTGTGTGTTAGACGAGGTTGCTCTCAAAACACTTTCACATATATGGAATCTTACTTATTTTTTTCTTTTTTGAGACGGAGTTTTGCTCTTGTTGCCCAGGTTGGAATGCAATGGTGCAATCTCGGCTCACTGCAACCTCCGCCTCCTGGGTTCAAGTGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGCATGAGCCACCACGCTCAGCTAATTTATGTATTTTTAGTAGAGACGGGATTTCTCCATGTTGGTCAGGCTGGTCTCAAGCTCCTGACCTCAGGTGATCTACCCGCCTCGGCCTCCAAAATTGTTGGGATTATAGGCGTGAGCCACCACACCCGGCCTATGGCATTCTTTTTATCTTTACATTATCCTTGTCTTAGATGGAGCTAGCTTTGGCTGCATTTTATAGCTGAGAAAGCTGAGGCATAAAAGTTAGGGATTAGCTGGGATTATTCTTCAGGAGTGGTCGAGACTAGAATCCTCCTGATCCAGTGTTCTTTCTAGTAGATCCTAAGCTTCAGATTCTCCTCCTGGGCCAGGCACAGTGGCTCATGTGTGTAATCCCAGCATTTTGGGAGTCCAAGGTGGGTGGATCACTTGAGGTCAGGAATTCAAGACCAGCCTGGCCAACATGGTGAAACCCCATCTCTACTAAAAATACAAAAAATTAGCTGGGTGTGGTGGTACATGCCTGTAAGTCCAGCTACTTGGGAGGCTGAGGAAGGAGAGTTGCTTGAATCTAGGAGGTGAAGGATGCAGTGAGCTGAGATGGAGCCACTGCATTCCAGCCTGGGCGACAGAGCGAGACTCTGTCTCAAAAAAACAAAAAACGAAAACCAAAAACAAATTCTCCTCCTGTTTTCTCACCCTGAGTCAGATTTGTTACTGTGTATTGTTTTTTTTATTTTTGTTTGTTTTATTTTTTGAACCTGGTAGCTACTGCTGTTATTTTTGTTTGTCCATTTGACTCTCACCCATCCTGTGGTCCAAAAAGTGCTTAAGGAGGTAATTAAAGAAATAAATACTACAGGCCATGTTCTGAGAAAATAAGGAGAGGGTTTGGGGAAGCACCCAAGAGTAGAAGCAAACGATTACAGGGGGCTGGGGTTGGTGGCTCATGCCTATAATC
CAGTGGCGTGATCTTGGCTCACTGCAACCTCTGCCTCCCGAGTTTAAGCAATTCTGTTTCAGCCCCCAGAGTAGCCAGGATTATAGGCACGCACCACCATGCCTGGCTAATTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTTTCACTCTTGTTGCCCAGGCTGGAGTGCAATAGTGTGATCTTGGCTCACTGCAAACTCCACCTCCCAGGTTCAAGCGAGTCTCGTTCCTCAGCCTCCCAAATAGCTGGGATTACAGGTACTCACCACCACGCCCAGCTAATTTCTATATTTTTAGTAGAGATGGGGTTTCACCATGTTGGCCAGGCTGGTCTCAAACTCCTGACCTCATGAGCCACCCTGACTTGGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACCGCGCCTGACCAGTATGTCAGTTTTTTAAATTTTTATTATTTTTTGAGATGGAGTTTTGCTCTTGTTGCCTAGGCTAGAATGCAGTGGCATAGTCTTGTCTCACTGCAACCTCTGCTTCCTGGGTTCAAGTGATTTTCCTGCCTCAGCCTCCCAAGTAGCTGGGATTACAGGCATGCACCACCACGCCCTGCTAATTTTGTATTTTTAGTAGAGAAGGGGTTTCTCCATGTTGGTCAGGCTGGTCTCAAACTCCTGACCTCAGGTGATCTACCCGCCTCGGCCTCCCAAAGTGTTGGGATTACAGGCGTGAGCCACGTGCCCGGCCAAGGACTCTTGACAGTGGTATCCTGGAGCTAGCTCATACGGGCTTGCAAGAGTGCAGTTGTTAAATTTTCAGGAGTTTTGTGAGCCAGTTGTTGAACATAGCCATTGTCAGAAATTAATTTATATAAGCTTATGATTTAATACATTATATTAAAAGCAAAGGTAAGATTAAATATTCAAAGCTCATCACTTCATTATTTTACCACATTTTACTATGCTCTGCCTTTGAGGTATTTGCTTTGAATGTGTCTGTATGGTGGAAATACTGTATAATGGTGTGGTATTCTTCCCAATGCTGCATTCAGTTACATGATATTGGTAACTTAAAATTGGCCATTGTGGGAGTATTTTTACCATGGAAATTGGCAAACATGACAAATCAGAGTCCTCCCTCACTTTGGAGAGCCAGTTTTTAAACATTTACTAGAATACTACTGGTTTTTGGGATATTTTTACCTGCCTTGTTGGGGCTCCTGAGACTAGAAAGGCTTATACAGCACCAACTTCTGGTGCCGACTGAGAGCAAGGCTTCAGGCAGCCAGACTGTGGGCTCCTGAGCCTGTTAGATGTGACCCACATTCCTCCCTCTTCCCAGGCCCTTCCATACTTTGACCGGCTAGACTATGTGTCCATGATGTGTAACGAACAGGCCTATTCTCTAGCTGTGGAGAAGTTGCTAAACATCCGGCCTCCTCCTCGGGCACAGTGGATCCGAGGTATGTCCCCCCAACTTTTTCTGTGGCCCACTGTGAGCATAGCATAGTGCCTTTTCCACCACTTCCCCGTTGAACCCAAGCTTAGTGTTCAGACCCCAGGCTCTGCCCAGACCTCTCTGTCCGCCTCAGTGCTTGGCTCCTATATCCTGTCTTCTCCTTGTCTTCACAGTGCTGTTTGGAGAAATCACACGTTTGTTGAACCACATCATGGCTGTGACCACACATGCCCTGGACCTTGGGGCCATGACCCCTTTCTTCTGGCTGTTTGAAGAAAGGGAGAAGGTAAGAGTGGGAGGAAAGGATAGGAATAGGGAAGGAAGTGCAGGAAGTAGAGAAGGTATAAAGGAGACAGGAGATTAAAAGAAGAGAGAGAACATGGGAGAACATTTAGAGGGGGAAGGTATGTTTAACTTGGGTTATATTTGTAGAAACTATATCATGAGGGGTTGGTTGGGCACAAGAAGGCAGAAAGTGGGGGAGTAGGCCATCATAGGACCTGGGGGCCTGGGACTTTGACACTAATTCCCAGCACGTTCTATGAAGATGTTTGAGTTCTACGAGCGAGTGTCTGGAGCCCGAATGCATGCTGCTTATATCCGGCAAGGAGGAGTGCACCAGGTGAGCAGGTCCCCGGCTTCCCCAAATGTCCAGCCCAGGCCTATTTTCCCTGTGGCCACTGGAGGGCAGTGCTGGATGATGGAAACTCCAAACCTGTATCGCTGGGGGAGGGGGTGCTGAGAGGGCTCTCCTTAGTGAAGGCTATGCCACATTCAGTAGCACTTCCGTTTGGCTTCTAGGACCTACCCCTTGGGCTTATGGATGACATTTATCAGTTTTCTAAGAACTTCTCTCTTCGGCTTGATGAGTTGGAGGAGGTAAGCTAGGAGTCAATGGGAAAAATCTCTCCCCCACAAGAAGGGCTAGAGAAATACAGAGATATTTGAAGAGTGTGAGGAAGAGTATTAACACACCAGTTTTCTTGATCAATAGTTGCTGACCAACAATAGGATCTGGCGAAATCGGACAATTGACATTGGGGTTGTAACAGCAGAAGAAGCACTTAACTATGGTTTTAGGTGAGGGGAATACAACTTCTCTCCGTAGGAGTGGGGGTGGGAGTGGGGGAGTTCCAGCCTAATATCTTGTCTTTGAAGACTTGTTGGCATCCTCCTAGTCATACCCTGAATGTGAAGGATCAACAAGGGAGGCTAAGGAAGAAGGAGCCTCCTTACTTAGTTTGTGGAGAGTGGCCCTTATTCCCATTATGCTCTCCACAGTGGAGTGATGCTTCGGGGCTCAGGCATCCAGTGGGACCTGCGGAAGACCCAGCCCTATGATGTTTACGACCAGGTTGAGTTTGATGTTCCTGTTGGTTCTCGAGGGGACTGCTATGATAGGTAAGGCCCCAATCCTTTCTTGGCTGATATTCCAGCTAGTTTCCCCTGCCTCACTCTTCTCTTTGCCACTTCCTTCTTTACCCTACTTCTCAGTGTCTGTGGGAGCTCTTGTGTGTGTTAGACGAGGTTGCTCTCAAAACACTTTCACATATATGGAATCTTACTTATTTTTTTCTTTTTTGAGACGGAGTTTTGCTCTTGTTGCCCAGGTTGGAATGCAATGGTGCAATCTCGGCTCACTGCAACCTCCGCCTCCTGGGTTCAAGTGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGCATGAGCCACCACGCTCAGCTAATTTATGTATTTTTAGTAGAGACGGGATTTCTCCATGTTGGTCAGGCTGGTCTCAAGCTCCTGACCTCAGGTGATCTACCCGCCTCGGCCTCCAAAATTGTTGGGATTATAGGCGTGAGCCACCACACCCGGCCTATGGCATTCTTTTTATCTTTACATTATCCTTGTCTTAGATGGAGCTAGCTTTGGCTGCATTTTATAGCTGAGAAAGCTGAGGCATAAAAGTTAGGGATTAGCTGGGATTATTCTTCAGGAGTGGTCGAGACTAGAATCCTCCTGATCCAGTGTTCTTTCTAGTAGATCCTAAGCTTCAGATTCTCCTCCTGGGCCAGGCACAGTGGCTCATGTGTGTAATCCCAGCATTTTGGGAGTCCAAGGTGGGTGGATCACTTGAGGTCAGGAATTCAAGACCAGCCTGGCCAACATGGTGAAACCCCATCTCTACTAAAAATACAAAAAATTAGCTGGGTGTGGTGGTACATGCCTGTAAGTCCAGCTACTTGGGAGGCTGAGGAAGGAGAGTTGCTTGAATCTAGGAGGTGAAGGATGCAGTGAGCTGAGATGGAGCCACTGCATTCCAGCCTGGGCGACAGAGCGAGACTCTGTCTCAAAAAAACAAAAAACGAAAACCAAAAACAAATTCTCCTCCTGTTTTCTCACCCTGAGTCAGATTTGTTACTGTGTATTGTTTTTTTTATTTTTGTTTGTTTTATTTTTTGAACCTGGTAGCTACTGCTGTTATTTTTGTTTGTCCATTTGACTCTCACCCATCCTGTGGTCCAAAAAGTGCTTAAGGAGGTAATTAAAGAAATAAATACTACAGGCCATGTTCTGAGAAAATAAGGAGAGGGTTTGGGGAAGCACCCAAGAGTAGAAGCAAACGATTACAGGGGGCTGGGGTTGGTGGCTCATGCCTATAATC
Task1_train_1993
The gene MPZ (myelin protein zero) on Chromosome 1 contains a mutation. Based on this information, is the variant pathogenic or benign? Provide the disease if relevant.
Pathogenic; Dejerine-Sottas disease
CATTATCTCAGTTGTTTACAAGTACATAAACAAGCTTACCAAAGTCAGGTAACTGTCCTGGGGATCACACAGCTAGAGAGTGGCTGGGATGTTTTAAAATTCAGATCTTGGTGAAGACAGATTCTGCGTTTTAACTCATGTAAAAGCAGAGACTGGCAGAGTTTACAACGTAGTATAATCTCACTGATTATTTGCTGAAGGTATGAATGTGTCTTGTGAGGCTATTTCAGAGTTCTTTCTAGTATACTATATAAGCCCACCCCAAAAAAACAAACTAAACAACTGAAGCCAAGTATGGAAGGTTGGGGATGGGATAAGGGGCAGGAATTATTCCCAGGAGGACTAGGAAATTCTAGACAAGGCAGCAGCTTCTGGAAATGTCAGTGTTTATTAAACATTTAAGGACATTTGGAGGTTTGAGAAGAAATATACAGAATGTAGAAAAATCCTAAGAATCCCCTGTGGCTGCAGTGCAGCCTCTTCCTCCCCCCCGCCCCCCCATTTCCCATTTGTTTTTCCTGCTTTTTGTTTGGTTGTTTAAAAACCATTTCTTAAGGCTCATTTGCCCCCTCCCCCACTCCCTGACCTATGAGGATCCATTCTCTCTCTCTGTCTCTCTCCTCAAGACCTGGAGTCCCAGAACAGTGCTCCAAAGTGGTCAGGGGGAACCAATGCTATACTGAAGTGTGAGGATCAGGGGCCCCTCTACTTGGGCTGGCTCTTCATTAAGGACTTAAGGGGGGCGTGAATTGCAAAAGCCACATGACGTCATTGGTCCTCAGTCATGGGTGTAAGGGCAGAGGATGAGCACAGGTAAACAAACAAAGAATGGATTAAAAAATAAAAAATAATAACCTAAATAAACCCTGAAGGAGAGTCTGATCTGGGTGCTCTGGGTATTAGCTGGGGGGACAGAGTATGGAGCTGGGCCACCTGGTAGAGGGGAGGGAGGGACGGGAGAGGAAACAGCCAGGGGGACAGGCTGGGGGATGCAGGAGATGGGAATGCCAGGTGGCCTGGACTTGAGGCAGAGGGTATCAAAGTCCCTTTCTTCTCAGTGCTCAGGTGGACAGGCACCAAACACACAGCCCCCGGGGCAGGTGAGGGGTAGGATTAGCTCCTGGGCTCCCAGAAAGCCAGGGGTGAAGGTGGGGGAGAATACAATTGCCTGGGGAATGAATTCTGGAATGAAACTTACATCTCAAAGGGAGGTGAGGGCAGGGCAGGGCGGGGGAGCAAAGAGGGAAAGCACCTAGACGGGGGTAAGAGGAGCCTAGGTCCCCCTGCTCTGGCAGGGCCTGGGGTGGGGGGGTGGCGATCACTTGTCCGAGTTCAGGCCCATCATGTTCTTGAGGGCGTTTTTGAGGCTGGTTCTGCTGGGGGACTTGACAGCAGGCCGGAGCTCCGGGCTCTGCTCATCCTTTCGTAGCTCCATCTCGATGACCATCACCTTTGGGCCTTTGGCGGACTCCACCCCTAACCCCCGATCCCCCGCCCGGCCCGCTAACCGCTATTTCTTATCCTTGCGAGACTCCCCCAGCCCCTTGGCCTTCTTCTCACTGACAGCTTTGGTGCTTCTGCTGTGGTCCAGCATTGCATACAGCACTGGCGTCTGGGGGAGGGGCGCACACATCAGTCACCGAGCGACTGGGGCTTGACTGTTCCCATCCCACCCCTCACTGCTGCCCGGCGGCTCCCAGGGTTCTCCTTCCCATCTTGTCTAGGCCCCAAGTCCCGCTAACCTGCCGCCCGCGCTTCGACGCGTCCTTTCCTGGCTTGTGCAATTTCCCCTTCTCCATAGCACTGCAAGAAGAGAGACTGCTGTACGTTTGGCCTCGCCGGAACCCCTTGCACCGCGGACACAGCTTCCTCTTCCCCTTGGCCCTCCCACCCACTGGAGTAGTCTCCGCCCAGATGGGGGATAGTGGGGAGAGGGGGAGGGGAGCTAGGCTCCGCCCCTTACCTGAGCCTCCTCTGCAGGGCCGCCTGCCTGCGTAGCCAGCAGTACCGAACCACGTAGAAAAGCAGCAGCAGCAACAGCACCACCCCGAGGACACCCCCGATCACAGCTCCCAGAACGACCCCGTACCTAGTTGGCACTAGGAGGGGTGGGAAAAGAAGTGGGAGAATGAGCAGGGCCCTGTATCTGTGGTTCCTAGTCCGAGTGTATGCCCTGCATTGAGGATGTAGGACTCCCAGCTAAAACTGCCTTCTGCCCACGCTCCCAGAGCCTGAATAAAGGTCCTTAGGCCGGGCTTTTTGCCTCTTCCCCCAACCTATCAGTCCTCCCTGATCCCCTCCCAAACTGCTTCCCATACCCTTGTCCCCATCCCTTCTCACACCTTTTTCAAAGACATACAGCGTGACCTGAGAGGTCTTGCCCACTATGTCTGGAGGGTTTTTGACGTCACAAGTGAACGTGCCATTGTCACTGTAGTCTAGGTTGTGTATGACAATGGAGCCATCCTTCCAGCGAGGGTCCCCTACCCACTGGATGCGCTCTTTGAAGGTCCCCACCTCGTCAATGTAGGGTTGTCCCTTGGCATAGTGGAAGATCTATGAGGAATGAGGGGAAGCATGTGAGAGGACCCTAATGAGAACACAGCTGTCAAAGCTTAGCTCCATAATTTGTTACAGAAAGAAAAAAGCAAAAAAAAAAAAAAAAAAAAAAAAGCTTCGCTCCAGCCTCAGGGTAAGGGATCTTGGGCTGGAAAGGGTAGTGCTGGAGAAGGGAGGACAATGTAGTCAGGGTGACAAAGACTGTCATTTACCTTGCCAAAGTTGGGGTTATGGCTCAAAAAGGATTTCCCCCTCCTTAGCCCAAGTTATCTTTTTTGTTGTTCTTTGAAGCACTTTCTGTTATCCAACCCCAGGATTCCCCCAGGCACTCACCGAAATGGCATCTCTGCCCCCTTCGGGCTGGTAGCGCCAGGTGAAGGAGATGTCATCTGAGACCCACTCACTGGACCAGAAGGAGCAGTGCAGGGTCACCCGGGAGCCCACAGCACCATGGACCTCCCTGTCGGTGTAAACCACGATGGCCTGGGCCGGGGACAGCACTGCAAGCACAAAGTGGGGAATCAGATGCACCTATGGGCCCAGTAAGGGATACAGAGGAAGTGAGATCAGTAGGAAATCAAGTGCTGAGTCACAGGTCAGAGGCCAATTTGGAAAAGAAACAACAAATTCTGAGCCCCAAGTCTCTGGGGACTAACTGAACAGATGAGCATAAATGCTGTGTCTGTCAAGCTCTTTAGCATGTCTGTAGAGAAGATGAAATCAGCAGTAACAGAATTCTCTTGAGGACTTCCAGAGATTGGGTTCTGTCTTTAAGTCTCACTTCTCCTTTGGGTCAGTATCTAACTTTTAAGCTATCCTTTAGATGCAGTGTTCTAAATTTTTAAAATTTATTATAAATTATACAGGTAATACATATTGTACTCTTCTTATAAACTATTCAAGCAATAGAAATAAAACAAAAGTCTCCTTTGACACTTAGCCCAACAAATTCCTTTCCTGTATTCCCTTCCAAGATGTAACAAGTTATCCATTTAATATGAATCAAACTCAGTATAAACTCAATAAACTCAAGATATACACATACTTACAACAAATAGTTTTGTGGAGTTTTTTTTTCCACATACATATTGCATTGTATTCTAGTGTCTTTTTGCTTAAGAACTTACGTATCTGGAGGAGCTTTCCCTGTTGATTCATAGATATCAATCTTATTTTAACAGCTGCATTGGATTTCACAATACAGCAAACTCAGATTTCTTGCAGAAAAAAATGAAGATAACTAGAAAATATAAGTCTTCTTCCCTGGCACAACTGTCCTCATTGCTGAATCCCTGGTTGCCATACAGCTTGCTCTTGACTGGAGAGTCAGGAAGGGAAGGGCCTCATACCCCTCTCAGCTGGGTGCAGAGCAACACCCCAAGCCTACAGCTCAGATGACCCTACATGTGAGCCCTCTATGGTTCAACTGTCCTCACCTTCCTCTTGGCCACTGTGGCCCAGTGCCATCCCCAAGACTTACCCACACAAGGAAGGTCATTCCAGAGAGACTATGTGTGTGGGCTGGCCCCAGGGAGGG
CATTATCTCAGTTGTTTACAAGTACATAAACAAGCTTACCAAAGTCAGGTAACTGTCCTGGGGATCACACAGCTAGAGAGTGGCTGGGATGTTTTAAAATTCAGATCTTGGTGAAGACAGATTCTGCGTTTTAACTCATGTAAAAGCAGAGACTGGCAGAGTTTACAACGTAGTATAATCTCACTGATTATTTGCTGAAGGTATGAATGTGTCTTGTGAGGCTATTTCAGAGTTCTTTCTAGTATACTATATAAGCCCACCCCAAAAAAACAAACTAAACAACTGAAGCCAAGTATGGAAGGTTGGGGATGGGATAAGGGGCAGGAATTATTCCCAGGAGGACTAGGAAATTCTAGACAAGGCAGCAGCTTCTGGAAATGTCAGTGTTTATTAAACATTTAAGGACATTTGGAGGTTTGAGAAGAAATATACAGAATGTAGAAAAATCCTAAGAATCCCCTGTGGCTGCAGTGCAGCCTCTTCCTCCCCCCCGCCCCCCCATTTCCCATTTGTTTTTCCTGCTTTTTGTTTGGTTGTTTAAAAACCATTTCTTAAGGCTCATTTGCCCCCTCCCCCACTCCCTGACCTATGAGGATCCATTCTCTCTCTCTGTCTCTCTCCTCAAGACCTGGAGTCCCAGAACAGTGCTCCAAAGTGGTCAGGGGGAACCAATGCTATACTGAAGTGTGAGGATCAGGGGCCCCTCTACTTGGGCTGGCTCTTCATTAAGGACTTAAGGGGGGCGTGAATTGCAAAAGCCACATGACGTCATTGGTCCTCAGTCATGGGTGTAAGGGCAGAGGATGAGCACAGGTAAACAAACAAAGAATGGATTAAAAAATAAAAAATAATAACCTAAATAAACCCTGAAGGAGAGTCTGATCTGGGTGCTCTGGGTATTAGCTGGGGGGACAGAGTATGGAGCTGGGCCACCTGGTAGAGGGGAGGGAGGGACGGGAGAGGAAACAGCCAGGGGGACAGGCTGGGGGATGCAGGAGATGGGAATGCCAGGTGGCCTGGACTTGAGGCAGAGGGTATCAAAGTCCCTTTCTTCTCAGTGCTCAGGTGGACAGGCACCAAACACACAGCCCCCGGGGCAGGTGAGGGGTAGGATTAGCTCCTGGGCTCCCAGAAAGCCAGGGGTGAAGGTGGGGGAGAATACAATTGCCTGGGGAATGAATTCTGGAATGAAACTTACATCTCAAAGGGAGGTGAGGGCAGGGCAGGGCGGGGGAGCAAAGAGGGAAAGCACCTAGACGGGGGTAAGAGGAGCCTAGGTCCCCCTGCTCTGGCAGGGCCTGGGGTGGGGGGGTGGCGATCACTTGTCCGAGTTCAGGCCCATCATGTTCTTGAGGGCGTTTTTGAGGCTGGTTCTGCTGGGGGACTTGACAGCAGGCCGGAGCTCCGGGCTCTGCTCATCCTTTCGTAGCTCCATCTCGATGACCATCACCTTTGGGCCTTTGGCGGACTCCACCCCTAACCCCCGATCCCCCGCCCGGCCCGCTAACCGCTATTTCTTATCCTTGCGAGACTCCCCCAGCCCCTTGGCCTTCTTCTCACTGACAGCTTTGGTGCTTCTGCTGTGGTCCAGCATTGCATACAGCACTGGCGTCTGGGGGAGGGGCGCACACATCAGTCACCGAGCGACTGGGGCTTGACTGTTCCCATCCCACCCCTCACTGCTGCCCGGCGGCTCCCAGGGTTCTCCTTCCCATCTTGTCTAGGCCCCAAGTCCCGCTAACCTGCCGCCCGCGCTTCGACGCGTCCTTTCCTGGCTTGTGCAATTTCCCCTTCTCCATAGCACTGCAAGAAGAGAGACTGCTGTACGTTTGGCCTCGCCGGAACCCCTTGCACCGCGGACACAGCTTCCTCTTCCCCTTGGCCCTCCCACCCACTGGAGTAGTCTCCGCCCAGATGGGGGATAGTGGGGAGAGGGGGAGGGGAGCTAGGCTCCGCCCCTTACCTGAGCCTCCTCTGCAGGGCCGCCTGCCTGCGTAGCCAGCAGTACCGAACCACGTAGAAAAGCAGCAGCAGCAACAGCACCACCCGGAGGACACCCCCGATCACAGCTCCCAGAACGACCCCGTACCTAGTTGGCACTAGGAGGGGTGGGAAAAGAAGTGGGAGAATGAGCAGGGCCCTGTATCTGTGGTTCCTAGTCCGAGTGTATGCCCTGCATTGAGGATGTAGGACTCCCAGCTAAAACTGCCTTCTGCCCACGCTCCCAGAGCCTGAATAAAGGTCCTTAGGCCGGGCTTTTTGCCTCTTCCCCCAACCTATCAGTCCTCCCTGATCCCCTCCCAAACTGCTTCCCATACCCTTGTCCCCATCCCTTCTCACACCTTTTTCAAAGACATACAGCGTGACCTGAGAGGTCTTGCCCACTATGTCTGGAGGGTTTTTGACGTCACAAGTGAACGTGCCATTGTCACTGTAGTCTAGGTTGTGTATGACAATGGAGCCATCCTTCCAGCGAGGGTCCCCTACCCACTGGATGCGCTCTTTGAAGGTCCCCACCTCGTCAATGTAGGGTTGTCCCTTGGCATAGTGGAAGATCTATGAGGAATGAGGGGAAGCATGTGAGAGGACCCTAATGAGAACACAGCTGTCAAAGCTTAGCTCCATAATTTGTTACAGAAAGAAAAAAGCAAAAAAAAAAAAAAAAAAAAAAAAGCTTCGCTCCAGCCTCAGGGTAAGGGATCTTGGGCTGGAAAGGGTAGTGCTGGAGAAGGGAGGACAATGTAGTCAGGGTGACAAAGACTGTCATTTACCTTGCCAAAGTTGGGGTTATGGCTCAAAAAGGATTTCCCCCTCCTTAGCCCAAGTTATCTTTTTTGTTGTTCTTTGAAGCACTTTCTGTTATCCAACCCCAGGATTCCCCCAGGCACTCACCGAAATGGCATCTCTGCCCCCTTCGGGCTGGTAGCGCCAGGTGAAGGAGATGTCATCTGAGACCCACTCACTGGACCAGAAGGAGCAGTGCAGGGTCACCCGGGAGCCCACAGCACCATGGACCTCCCTGTCGGTGTAAACCACGATGGCCTGGGCCGGGGACAGCACTGCAAGCACAAAGTGGGGAATCAGATGCACCTATGGGCCCAGTAAGGGATACAGAGGAAGTGAGATCAGTAGGAAATCAAGTGCTGAGTCACAGGTCAGAGGCCAATTTGGAAAAGAAACAACAAATTCTGAGCCCCAAGTCTCTGGGGACTAACTGAACAGATGAGCATAAATGCTGTGTCTGTCAAGCTCTTTAGCATGTCTGTAGAGAAGATGAAATCAGCAGTAACAGAATTCTCTTGAGGACTTCCAGAGATTGGGTTCTGTCTTTAAGTCTCACTTCTCCTTTGGGTCAGTATCTAACTTTTAAGCTATCCTTTAGATGCAGTGTTCTAAATTTTTAAAATTTATTATAAATTATACAGGTAATACATATTGTACTCTTCTTATAAACTATTCAAGCAATAGAAATAAAACAAAAGTCTCCTTTGACACTTAGCCCAACAAATTCCTTTCCTGTATTCCCTTCCAAGATGTAACAAGTTATCCATTTAATATGAATCAAACTCAGTATAAACTCAATAAACTCAAGATATACACATACTTACAACAAATAGTTTTGTGGAGTTTTTTTTTCCACATACATATTGCATTGTATTCTAGTGTCTTTTTGCTTAAGAACTTACGTATCTGGAGGAGCTTTCCCTGTTGATTCATAGATATCAATCTTATTTTAACAGCTGCATTGGATTTCACAATACAGCAAACTCAGATTTCTTGCAGAAAAAAATGAAGATAACTAGAAAATATAAGTCTTCTTCCCTGGCACAACTGTCCTCATTGCTGAATCCCTGGTTGCCATACAGCTTGCTCTTGACTGGAGAGTCAGGAAGGGAAGGGCCTCATACCCCTCTCAGCTGGGTGCAGAGCAACACCCCAAGCCTACAGCTCAGATGACCCTACATGTGAGCCCTCTATGGTTCAACTGTCCTCACCTTCCTCTTGGCCACTGTGGCCCAGTGCCATCCCCAAGACTTACCCACACAAGGAAGGTCATTCCAGAGAGACTATGTGTGTGGGCTGGCCCCAGGGAGGG
Task1_train_1994
A genetic alteration is present in MPZ (myelin protein zero) on Chromosome 1. Is this variant benign or disease-causing, and if the latter, which condition is involved?
Pathogenic; Charcot-Marie-Tooth disease type 4E
CATTATCTCAGTTGTTTACAAGTACATAAACAAGCTTACCAAAGTCAGGTAACTGTCCTGGGGATCACACAGCTAGAGAGTGGCTGGGATGTTTTAAAATTCAGATCTTGGTGAAGACAGATTCTGCGTTTTAACTCATGTAAAAGCAGAGACTGGCAGAGTTTACAACGTAGTATAATCTCACTGATTATTTGCTGAAGGTATGAATGTGTCTTGTGAGGCTATTTCAGAGTTCTTTCTAGTATACTATATAAGCCCACCCCAAAAAAACAAACTAAACAACTGAAGCCAAGTATGGAAGGTTGGGGATGGGATAAGGGGCAGGAATTATTCCCAGGAGGACTAGGAAATTCTAGACAAGGCAGCAGCTTCTGGAAATGTCAGTGTTTATTAAACATTTAAGGACATTTGGAGGTTTGAGAAGAAATATACAGAATGTAGAAAAATCCTAAGAATCCCCTGTGGCTGCAGTGCAGCCTCTTCCTCCCCCCCGCCCCCCCATTTCCCATTTGTTTTTCCTGCTTTTTGTTTGGTTGTTTAAAAACCATTTCTTAAGGCTCATTTGCCCCCTCCCCCACTCCCTGACCTATGAGGATCCATTCTCTCTCTCTGTCTCTCTCCTCAAGACCTGGAGTCCCAGAACAGTGCTCCAAAGTGGTCAGGGGGAACCAATGCTATACTGAAGTGTGAGGATCAGGGGCCCCTCTACTTGGGCTGGCTCTTCATTAAGGACTTAAGGGGGGCGTGAATTGCAAAAGCCACATGACGTCATTGGTCCTCAGTCATGGGTGTAAGGGCAGAGGATGAGCACAGGTAAACAAACAAAGAATGGATTAAAAAATAAAAAATAATAACCTAAATAAACCCTGAAGGAGAGTCTGATCTGGGTGCTCTGGGTATTAGCTGGGGGGACAGAGTATGGAGCTGGGCCACCTGGTAGAGGGGAGGGAGGGACGGGAGAGGAAACAGCCAGGGGGACAGGCTGGGGGATGCAGGAGATGGGAATGCCAGGTGGCCTGGACTTGAGGCAGAGGGTATCAAAGTCCCTTTCTTCTCAGTGCTCAGGTGGACAGGCACCAAACACACAGCCCCCGGGGCAGGTGAGGGGTAGGATTAGCTCCTGGGCTCCCAGAAAGCCAGGGGTGAAGGTGGGGGAGAATACAATTGCCTGGGGAATGAATTCTGGAATGAAACTTACATCTCAAAGGGAGGTGAGGGCAGGGCAGGGCGGGGGAGCAAAGAGGGAAAGCACCTAGACGGGGGTAAGAGGAGCCTAGGTCCCCCTGCTCTGGCAGGGCCTGGGGTGGGGGGGTGGCGATCACTTGTCCGAGTTCAGGCCCATCATGTTCTTGAGGGCGTTTTTGAGGCTGGTTCTGCTGGGGGACTTGACAGCAGGCCGGAGCTCCGGGCTCTGCTCATCCTTTCGTAGCTCCATCTCGATGACCATCACCTTTGGGCCTTTGGCGGACTCCACCCCTAACCCCCGATCCCCCGCCCGGCCCGCTAACCGCTATTTCTTATCCTTGCGAGACTCCCCCAGCCCCTTGGCCTTCTTCTCACTGACAGCTTTGGTGCTTCTGCTGTGGTCCAGCATTGCATACAGCACTGGCGTCTGGGGGAGGGGCGCACACATCAGTCACCGAGCGACTGGGGCTTGACTGTTCCCATCCCACCCCTCACTGCTGCCCGGCGGCTCCCAGGGTTCTCCTTCCCATCTTGTCTAGGCCCCAAGTCCCGCTAACCTGCCGCCCGCGCTTCGACGCGTCCTTTCCTGGCTTGTGCAATTTCCCCTTCTCCATAGCACTGCAAGAAGAGAGACTGCTGTACGTTTGGCCTCGCCGGAACCCCTTGCACCGCGGACACAGCTTCCTCTTCCCCTTGGCCCTCCCACCCACTGGAGTAGTCTCCGCCCAGATGGGGGATAGTGGGGAGAGGGGGAGGGGAGCTAGGCTCCGCCCCTTACCTGAGCCTCCTCTGCAGGGCCGCCTGCCTGCGTAGCCAGCAGTACCGAACCACGTAGAAAAGCAGCAGCAGCAACAGCACCACCCCGAGGACACCCCCGATCACAGCTCCCAGAACGACCCCGTACCTAGTTGGCACTAGGAGGGGTGGGAAAAGAAGTGGGAGAATGAGCAGGGCCCTGTATCTGTGGTTCCTAGTCCGAGTGTATGCCCTGCATTGAGGATGTAGGACTCCCAGCTAAAACTGCCTTCTGCCCACGCTCCCAGAGCCTGAATAAAGGTCCTTAGGCCGGGCTTTTTGCCTCTTCCCCCAACCTATCAGTCCTCCCTGATCCCCTCCCAAACTGCTTCCCATACCCTTGTCCCCATCCCTTCTCACACCTTTTTCAAAGACATACAGCGTGACCTGAGAGGTCTTGCCCACTATGTCTGGAGGGTTTTTGACGTCACAAGTGAACGTGCCATTGTCACTGTAGTCTAGGTTGTGTATGACAATGGAGCCATCCTTCCAGCGAGGGTCCCCTACCCACTGGATGCGCTCTTTGAAGGTCCCCACCTCGTCAATGTAGGGTTGTCCCTTGGCATAGTGGAAGATCTATGAGGAATGAGGGGAAGCATGTGAGAGGACCCTAATGAGAACACAGCTGTCAAAGCTTAGCTCCATAATTTGTTACAGAAAGAAAAAAGCAAAAAAAAAAAAAAAAAAAAAAAAGCTTCGCTCCAGCCTCAGGGTAAGGGATCTTGGGCTGGAAAGGGTAGTGCTGGAGAAGGGAGGACAATGTAGTCAGGGTGACAAAGACTGTCATTTACCTTGCCAAAGTTGGGGTTATGGCTCAAAAAGGATTTCCCCCTCCTTAGCCCAAGTTATCTTTTTTGTTGTTCTTTGAAGCACTTTCTGTTATCCAACCCCAGGATTCCCCCAGGCACTCACCGAAATGGCATCTCTGCCCCCTTCGGGCTGGTAGCGCCAGGTGAAGGAGATGTCATCTGAGACCCACTCACTGGACCAGAAGGAGCAGTGCAGGGTCACCCGGGAGCCCACAGCACCATGGACCTCCCTGTCGGTGTAAACCACGATGGCCTGGGCCGGGGACAGCACTGCAAGCACAAAGTGGGGAATCAGATGCACCTATGGGCCCAGTAAGGGATACAGAGGAAGTGAGATCAGTAGGAAATCAAGTGCTGAGTCACAGGTCAGAGGCCAATTTGGAAAAGAAACAACAAATTCTGAGCCCCAAGTCTCTGGGGACTAACTGAACAGATGAGCATAAATGCTGTGTCTGTCAAGCTCTTTAGCATGTCTGTAGAGAAGATGAAATCAGCAGTAACAGAATTCTCTTGAGGACTTCCAGAGATTGGGTTCTGTCTTTAAGTCTCACTTCTCCTTTGGGTCAGTATCTAACTTTTAAGCTATCCTTTAGATGCAGTGTTCTAAATTTTTAAAATTTATTATAAATTATACAGGTAATACATATTGTACTCTTCTTATAAACTATTCAAGCAATAGAAATAAAACAAAAGTCTCCTTTGACACTTAGCCCAACAAATTCCTTTCCTGTATTCCCTTCCAAGATGTAACAAGTTATCCATTTAATATGAATCAAACTCAGTATAAACTCAATAAACTCAAGATATACACATACTTACAACAAATAGTTTTGTGGAGTTTTTTTTTCCACATACATATTGCATTGTATTCTAGTGTCTTTTTGCTTAAGAACTTACGTATCTGGAGGAGCTTTCCCTGTTGATTCATAGATATCAATCTTATTTTAACAGCTGCATTGGATTTCACAATACAGCAAACTCAGATTTCTTGCAGAAAAAAATGAAGATAACTAGAAAATATAAGTCTTCTTCCCTGGCACAACTGTCCTCATTGCTGAATCCCTGGTTGCCATACAGCTTGCTCTTGACTGGAGAGTCAGGAAGGGAAGGGCCTCATACCCCTCTCAGCTGGGTGCAGAGCAACACCCCAAGCCTACAGCTCAGATGACCCTACATGTGAGCCCTCTATGGTTCAACTGTCCTCACCTTCCTCTTGGCCACTGTGGCCCAGTGCCATCCCCAAGACTTACCCACACAAGGAAGGTCATTCCAGAGAGACTATGTGTGTGGGCTGGCCCCAGGGAGGG
CATTATCTCAGTTGTTTACAAGTACATAAACAAGCTTACCAAAGTCAGGTAACTGTCCTGGGGATCACACAGCTAGAGAGTGGCTGGGATGTTTTAAAATTCAGATCTTGGTGAAGACAGATTCTGCGTTTTAACTCATGTAAAAGCAGAGACTGGCAGAGTTTACAACGTAGTATAATCTCACTGATTATTTGCTGAAGGTATGAATGTGTCTTGTGAGGCTATTTCAGAGTTCTTTCTAGTATACTATATAAGCCCACCCCAAAAAAACAAACTAAACAACTGAAGCCAAGTATGGAAGGTTGGGGATGGGATAAGGGGCAGGAATTATTCCCAGGAGGACTAGGAAATTCTAGACAAGGCAGCAGCTTCTGGAAATGTCAGTGTTTATTAAACATTTAAGGACATTTGGAGGTTTGAGAAGAAATATACAGAATGTAGAAAAATCCTAAGAATCCCCTGTGGCTGCAGTGCAGCCTCTTCCTCCCCCCCGCCCCCCCATTTCCCATTTGTTTTTCCTGCTTTTTGTTTGGTTGTTTAAAAACCATTTCTTAAGGCTCATTTGCCCCCTCCCCCACTCCCTGACCTATGAGGATCCATTCTCTCTCTCTGTCTCTCTCCTCAAGACCTGGAGTCCCAGAACAGTGCTCCAAAGTGGTCAGGGGGAACCAATGCTATACTGAAGTGTGAGGATCAGGGGCCCCTCTACTTGGGCTGGCTCTTCATTAAGGACTTAAGGGGGGCGTGAATTGCAAAAGCCACATGACGTCATTGGTCCTCAGTCATGGGTGTAAGGGCAGAGGATGAGCACAGGTAAACAAACAAAGAATGGATTAAAAAATAAAAAATAATAACCTAAATAAACCCTGAAGGAGAGTCTGATCTGGGTGCTCTGGGTATTAGCTGGGGGGACAGAGTATGGAGCTGGGCCACCTGGTAGAGGGGAGGGAGGGACGGGAGAGGAAACAGCCAGGGGGACAGGCTGGGGGATGCAGGAGATGGGAATGCCAGGTGGCCTGGACTTGAGGCAGAGGGTATCAAAGTCCCTTTCTTCTCAGTGCTCAGGTGGACAGGCACCAAACACACAGCCCCCGGGGCAGGTGAGGGGTAGGATTAGCTCCTGGGCTCCCAGAAAGCCAGGGGTGAAGGTGGGGGAGAATACAATTGCCTGGGGAATGAATTCTGGAATGAAACTTACATCTCAAAGGGAGGTGAGGGCAGGGCAGGGCGGGGGAGCAAAGAGGGAAAGCACCTAGACGGGGGTAAGAGGAGCCTAGGTCCCCCTGCTCTGGCAGGGCCTGGGGTGGGGGGGTGGCGATCACTTGTCCGAGTTCAGGCCCATCATGTTCTTGAGGGCGTTTTTGAGGCTGGTTCTGCTGGGGGACTTGACAGCAGGCCGGAGCTCCGGGCTCTGCTCATCCTTTCGTAGCTCCATCTCGATGACCATCACCTTTGGGCCTTTGGCGGACTCCACCCCTAACCCCCGATCCCCCGCCCGGCCCGCTAACCGCTATTTCTTATCCTTGCGAGACTCCCCCAGCCCCTTGGCCTTCTTCTCACTGACAGCTTTGGTGCTTCTGCTGTGGTCCAGCATTGCATACAGCACTGGCGTCTGGGGGAGGGGCGCACACATCAGTCACCGAGCGACTGGGGCTTGACTGTTCCCATCCCACCCCTCACTGCTGCCCGGCGGCTCCCAGGGTTCTCCTTCCCATCTTGTCTAGGCCCCAAGTCCCGCTAACCTGCCGCCCGCGCTTCGACGCGTCCTTTCCTGGCTTGTGCAATTTCCCCTTCTCCATAGCACTGCAAGAAGAGAGACTGCTGTACGTTTGGCCTCGCCGGAACCCCTTGCACCGCGGACACAGCTTCCTCTTCCCCTTGGCCCTCCCACCCACTGGAGTAGTCTCCGCCCAGATGGGGGATAGTGGGGAGAGGGGGAGGGGAGCTAGGCTCCGCCCCTTACCTGAGCCTCCTCTGCAGGGCCGCCTGCCTGCGTAGCCAGCAGTACCGAACCACGTAGAAAAGCAGCAGCAGCAACAGCACCACCCGGAGGACACCCCCGATCACAGCTCCCAGAACGACCCCGTACCTAGTTGGCACTAGGAGGGGTGGGAAAAGAAGTGGGAGAATGAGCAGGGCCCTGTATCTGTGGTTCCTAGTCCGAGTGTATGCCCTGCATTGAGGATGTAGGACTCCCAGCTAAAACTGCCTTCTGCCCACGCTCCCAGAGCCTGAATAAAGGTCCTTAGGCCGGGCTTTTTGCCTCTTCCCCCAACCTATCAGTCCTCCCTGATCCCCTCCCAAACTGCTTCCCATACCCTTGTCCCCATCCCTTCTCACACCTTTTTCAAAGACATACAGCGTGACCTGAGAGGTCTTGCCCACTATGTCTGGAGGGTTTTTGACGTCACAAGTGAACGTGCCATTGTCACTGTAGTCTAGGTTGTGTATGACAATGGAGCCATCCTTCCAGCGAGGGTCCCCTACCCACTGGATGCGCTCTTTGAAGGTCCCCACCTCGTCAATGTAGGGTTGTCCCTTGGCATAGTGGAAGATCTATGAGGAATGAGGGGAAGCATGTGAGAGGACCCTAATGAGAACACAGCTGTCAAAGCTTAGCTCCATAATTTGTTACAGAAAGAAAAAAGCAAAAAAAAAAAAAAAAAAAAAAAAGCTTCGCTCCAGCCTCAGGGTAAGGGATCTTGGGCTGGAAAGGGTAGTGCTGGAGAAGGGAGGACAATGTAGTCAGGGTGACAAAGACTGTCATTTACCTTGCCAAAGTTGGGGTTATGGCTCAAAAAGGATTTCCCCCTCCTTAGCCCAAGTTATCTTTTTTGTTGTTCTTTGAAGCACTTTCTGTTATCCAACCCCAGGATTCCCCCAGGCACTCACCGAAATGGCATCTCTGCCCCCTTCGGGCTGGTAGCGCCAGGTGAAGGAGATGTCATCTGAGACCCACTCACTGGACCAGAAGGAGCAGTGCAGGGTCACCCGGGAGCCCACAGCACCATGGACCTCCCTGTCGGTGTAAACCACGATGGCCTGGGCCGGGGACAGCACTGCAAGCACAAAGTGGGGAATCAGATGCACCTATGGGCCCAGTAAGGGATACAGAGGAAGTGAGATCAGTAGGAAATCAAGTGCTGAGTCACAGGTCAGAGGCCAATTTGGAAAAGAAACAACAAATTCTGAGCCCCAAGTCTCTGGGGACTAACTGAACAGATGAGCATAAATGCTGTGTCTGTCAAGCTCTTTAGCATGTCTGTAGAGAAGATGAAATCAGCAGTAACAGAATTCTCTTGAGGACTTCCAGAGATTGGGTTCTGTCTTTAAGTCTCACTTCTCCTTTGGGTCAGTATCTAACTTTTAAGCTATCCTTTAGATGCAGTGTTCTAAATTTTTAAAATTTATTATAAATTATACAGGTAATACATATTGTACTCTTCTTATAAACTATTCAAGCAATAGAAATAAAACAAAAGTCTCCTTTGACACTTAGCCCAACAAATTCCTTTCCTGTATTCCCTTCCAAGATGTAACAAGTTATCCATTTAATATGAATCAAACTCAGTATAAACTCAATAAACTCAAGATATACACATACTTACAACAAATAGTTTTGTGGAGTTTTTTTTTCCACATACATATTGCATTGTATTCTAGTGTCTTTTTGCTTAAGAACTTACGTATCTGGAGGAGCTTTCCCTGTTGATTCATAGATATCAATCTTATTTTAACAGCTGCATTGGATTTCACAATACAGCAAACTCAGATTTCTTGCAGAAAAAAATGAAGATAACTAGAAAATATAAGTCTTCTTCCCTGGCACAACTGTCCTCATTGCTGAATCCCTGGTTGCCATACAGCTTGCTCTTGACTGGAGAGTCAGGAAGGGAAGGGCCTCATACCCCTCTCAGCTGGGTGCAGAGCAACACCCCAAGCCTACAGCTCAGATGACCCTACATGTGAGCCCTCTATGGTTCAACTGTCCTCACCTTCCTCTTGGCCACTGTGGCCCAGTGCCATCCCCAAGACTTACCCACACAAGGAAGGTCATTCCAGAGAGACTATGTGTGTGGGCTGGCCCCAGGGAGGG
Task1_train_1995
Here’s a variant in MPZ (myelin protein zero) located on Chromosome 1. What is the predicted biological effect — harmless or disease-causing?
Pathogenic; Roussy-Lévy syndrome
CATTATCTCAGTTGTTTACAAGTACATAAACAAGCTTACCAAAGTCAGGTAACTGTCCTGGGGATCACACAGCTAGAGAGTGGCTGGGATGTTTTAAAATTCAGATCTTGGTGAAGACAGATTCTGCGTTTTAACTCATGTAAAAGCAGAGACTGGCAGAGTTTACAACGTAGTATAATCTCACTGATTATTTGCTGAAGGTATGAATGTGTCTTGTGAGGCTATTTCAGAGTTCTTTCTAGTATACTATATAAGCCCACCCCAAAAAAACAAACTAAACAACTGAAGCCAAGTATGGAAGGTTGGGGATGGGATAAGGGGCAGGAATTATTCCCAGGAGGACTAGGAAATTCTAGACAAGGCAGCAGCTTCTGGAAATGTCAGTGTTTATTAAACATTTAAGGACATTTGGAGGTTTGAGAAGAAATATACAGAATGTAGAAAAATCCTAAGAATCCCCTGTGGCTGCAGTGCAGCCTCTTCCTCCCCCCCGCCCCCCCATTTCCCATTTGTTTTTCCTGCTTTTTGTTTGGTTGTTTAAAAACCATTTCTTAAGGCTCATTTGCCCCCTCCCCCACTCCCTGACCTATGAGGATCCATTCTCTCTCTCTGTCTCTCTCCTCAAGACCTGGAGTCCCAGAACAGTGCTCCAAAGTGGTCAGGGGGAACCAATGCTATACTGAAGTGTGAGGATCAGGGGCCCCTCTACTTGGGCTGGCTCTTCATTAAGGACTTAAGGGGGGCGTGAATTGCAAAAGCCACATGACGTCATTGGTCCTCAGTCATGGGTGTAAGGGCAGAGGATGAGCACAGGTAAACAAACAAAGAATGGATTAAAAAATAAAAAATAATAACCTAAATAAACCCTGAAGGAGAGTCTGATCTGGGTGCTCTGGGTATTAGCTGGGGGGACAGAGTATGGAGCTGGGCCACCTGGTAGAGGGGAGGGAGGGACGGGAGAGGAAACAGCCAGGGGGACAGGCTGGGGGATGCAGGAGATGGGAATGCCAGGTGGCCTGGACTTGAGGCAGAGGGTATCAAAGTCCCTTTCTTCTCAGTGCTCAGGTGGACAGGCACCAAACACACAGCCCCCGGGGCAGGTGAGGGGTAGGATTAGCTCCTGGGCTCCCAGAAAGCCAGGGGTGAAGGTGGGGGAGAATACAATTGCCTGGGGAATGAATTCTGGAATGAAACTTACATCTCAAAGGGAGGTGAGGGCAGGGCAGGGCGGGGGAGCAAAGAGGGAAAGCACCTAGACGGGGGTAAGAGGAGCCTAGGTCCCCCTGCTCTGGCAGGGCCTGGGGTGGGGGGGTGGCGATCACTTGTCCGAGTTCAGGCCCATCATGTTCTTGAGGGCGTTTTTGAGGCTGGTTCTGCTGGGGGACTTGACAGCAGGCCGGAGCTCCGGGCTCTGCTCATCCTTTCGTAGCTCCATCTCGATGACCATCACCTTTGGGCCTTTGGCGGACTCCACCCCTAACCCCCGATCCCCCGCCCGGCCCGCTAACCGCTATTTCTTATCCTTGCGAGACTCCCCCAGCCCCTTGGCCTTCTTCTCACTGACAGCTTTGGTGCTTCTGCTGTGGTCCAGCATTGCATACAGCACTGGCGTCTGGGGGAGGGGCGCACACATCAGTCACCGAGCGACTGGGGCTTGACTGTTCCCATCCCACCCCTCACTGCTGCCCGGCGGCTCCCAGGGTTCTCCTTCCCATCTTGTCTAGGCCCCAAGTCCCGCTAACCTGCCGCCCGCGCTTCGACGCGTCCTTTCCTGGCTTGTGCAATTTCCCCTTCTCCATAGCACTGCAAGAAGAGAGACTGCTGTACGTTTGGCCTCGCCGGAACCCCTTGCACCGCGGACACAGCTTCCTCTTCCCCTTGGCCCTCCCACCCACTGGAGTAGTCTCCGCCCAGATGGGGGATAGTGGGGAGAGGGGGAGGGGAGCTAGGCTCCGCCCCTTACCTGAGCCTCCTCTGCAGGGCCGCCTGCCTGCGTAGCCAGCAGTACCGAACCACGTAGAAAAGCAGCAGCAGCAACAGCACCACCCCGAGGACACCCCCGATCACAGCTCCCAGAACGACCCCGTACCTAGTTGGCACTAGGAGGGGTGGGAAAAGAAGTGGGAGAATGAGCAGGGCCCTGTATCTGTGGTTCCTAGTCCGAGTGTATGCCCTGCATTGAGGATGTAGGACTCCCAGCTAAAACTGCCTTCTGCCCACGCTCCCAGAGCCTGAATAAAGGTCCTTAGGCCGGGCTTTTTGCCTCTTCCCCCAACCTATCAGTCCTCCCTGATCCCCTCCCAAACTGCTTCCCATACCCTTGTCCCCATCCCTTCTCACACCTTTTTCAAAGACATACAGCGTGACCTGAGAGGTCTTGCCCACTATGTCTGGAGGGTTTTTGACGTCACAAGTGAACGTGCCATTGTCACTGTAGTCTAGGTTGTGTATGACAATGGAGCCATCCTTCCAGCGAGGGTCCCCTACCCACTGGATGCGCTCTTTGAAGGTCCCCACCTCGTCAATGTAGGGTTGTCCCTTGGCATAGTGGAAGATCTATGAGGAATGAGGGGAAGCATGTGAGAGGACCCTAATGAGAACACAGCTGTCAAAGCTTAGCTCCATAATTTGTTACAGAAAGAAAAAAGCAAAAAAAAAAAAAAAAAAAAAAAAGCTTCGCTCCAGCCTCAGGGTAAGGGATCTTGGGCTGGAAAGGGTAGTGCTGGAGAAGGGAGGACAATGTAGTCAGGGTGACAAAGACTGTCATTTACCTTGCCAAAGTTGGGGTTATGGCTCAAAAAGGATTTCCCCCTCCTTAGCCCAAGTTATCTTTTTTGTTGTTCTTTGAAGCACTTTCTGTTATCCAACCCCAGGATTCCCCCAGGCACTCACCGAAATGGCATCTCTGCCCCCTTCGGGCTGGTAGCGCCAGGTGAAGGAGATGTCATCTGAGACCCACTCACTGGACCAGAAGGAGCAGTGCAGGGTCACCCGGGAGCCCACAGCACCATGGACCTCCCTGTCGGTGTAAACCACGATGGCCTGGGCCGGGGACAGCACTGCAAGCACAAAGTGGGGAATCAGATGCACCTATGGGCCCAGTAAGGGATACAGAGGAAGTGAGATCAGTAGGAAATCAAGTGCTGAGTCACAGGTCAGAGGCCAATTTGGAAAAGAAACAACAAATTCTGAGCCCCAAGTCTCTGGGGACTAACTGAACAGATGAGCATAAATGCTGTGTCTGTCAAGCTCTTTAGCATGTCTGTAGAGAAGATGAAATCAGCAGTAACAGAATTCTCTTGAGGACTTCCAGAGATTGGGTTCTGTCTTTAAGTCTCACTTCTCCTTTGGGTCAGTATCTAACTTTTAAGCTATCCTTTAGATGCAGTGTTCTAAATTTTTAAAATTTATTATAAATTATACAGGTAATACATATTGTACTCTTCTTATAAACTATTCAAGCAATAGAAATAAAACAAAAGTCTCCTTTGACACTTAGCCCAACAAATTCCTTTCCTGTATTCCCTTCCAAGATGTAACAAGTTATCCATTTAATATGAATCAAACTCAGTATAAACTCAATAAACTCAAGATATACACATACTTACAACAAATAGTTTTGTGGAGTTTTTTTTTCCACATACATATTGCATTGTATTCTAGTGTCTTTTTGCTTAAGAACTTACGTATCTGGAGGAGCTTTCCCTGTTGATTCATAGATATCAATCTTATTTTAACAGCTGCATTGGATTTCACAATACAGCAAACTCAGATTTCTTGCAGAAAAAAATGAAGATAACTAGAAAATATAAGTCTTCTTCCCTGGCACAACTGTCCTCATTGCTGAATCCCTGGTTGCCATACAGCTTGCTCTTGACTGGAGAGTCAGGAAGGGAAGGGCCTCATACCCCTCTCAGCTGGGTGCAGAGCAACACCCCAAGCCTACAGCTCAGATGACCCTACATGTGAGCCCTCTATGGTTCAACTGTCCTCACCTTCCTCTTGGCCACTGTGGCCCAGTGCCATCCCCAAGACTTACCCACACAAGGAAGGTCATTCCAGAGAGACTATGTGTGTGGGCTGGCCCCAGGGAGGG
CATTATCTCAGTTGTTTACAAGTACATAAACAAGCTTACCAAAGTCAGGTAACTGTCCTGGGGATCACACAGCTAGAGAGTGGCTGGGATGTTTTAAAATTCAGATCTTGGTGAAGACAGATTCTGCGTTTTAACTCATGTAAAAGCAGAGACTGGCAGAGTTTACAACGTAGTATAATCTCACTGATTATTTGCTGAAGGTATGAATGTGTCTTGTGAGGCTATTTCAGAGTTCTTTCTAGTATACTATATAAGCCCACCCCAAAAAAACAAACTAAACAACTGAAGCCAAGTATGGAAGGTTGGGGATGGGATAAGGGGCAGGAATTATTCCCAGGAGGACTAGGAAATTCTAGACAAGGCAGCAGCTTCTGGAAATGTCAGTGTTTATTAAACATTTAAGGACATTTGGAGGTTTGAGAAGAAATATACAGAATGTAGAAAAATCCTAAGAATCCCCTGTGGCTGCAGTGCAGCCTCTTCCTCCCCCCCGCCCCCCCATTTCCCATTTGTTTTTCCTGCTTTTTGTTTGGTTGTTTAAAAACCATTTCTTAAGGCTCATTTGCCCCCTCCCCCACTCCCTGACCTATGAGGATCCATTCTCTCTCTCTGTCTCTCTCCTCAAGACCTGGAGTCCCAGAACAGTGCTCCAAAGTGGTCAGGGGGAACCAATGCTATACTGAAGTGTGAGGATCAGGGGCCCCTCTACTTGGGCTGGCTCTTCATTAAGGACTTAAGGGGGGCGTGAATTGCAAAAGCCACATGACGTCATTGGTCCTCAGTCATGGGTGTAAGGGCAGAGGATGAGCACAGGTAAACAAACAAAGAATGGATTAAAAAATAAAAAATAATAACCTAAATAAACCCTGAAGGAGAGTCTGATCTGGGTGCTCTGGGTATTAGCTGGGGGGACAGAGTATGGAGCTGGGCCACCTGGTAGAGGGGAGGGAGGGACGGGAGAGGAAACAGCCAGGGGGACAGGCTGGGGGATGCAGGAGATGGGAATGCCAGGTGGCCTGGACTTGAGGCAGAGGGTATCAAAGTCCCTTTCTTCTCAGTGCTCAGGTGGACAGGCACCAAACACACAGCCCCCGGGGCAGGTGAGGGGTAGGATTAGCTCCTGGGCTCCCAGAAAGCCAGGGGTGAAGGTGGGGGAGAATACAATTGCCTGGGGAATGAATTCTGGAATGAAACTTACATCTCAAAGGGAGGTGAGGGCAGGGCAGGGCGGGGGAGCAAAGAGGGAAAGCACCTAGACGGGGGTAAGAGGAGCCTAGGTCCCCCTGCTCTGGCAGGGCCTGGGGTGGGGGGGTGGCGATCACTTGTCCGAGTTCAGGCCCATCATGTTCTTGAGGGCGTTTTTGAGGCTGGTTCTGCTGGGGGACTTGACAGCAGGCCGGAGCTCCGGGCTCTGCTCATCCTTTCGTAGCTCCATCTCGATGACCATCACCTTTGGGCCTTTGGCGGACTCCACCCCTAACCCCCGATCCCCCGCCCGGCCCGCTAACCGCTATTTCTTATCCTTGCGAGACTCCCCCAGCCCCTTGGCCTTCTTCTCACTGACAGCTTTGGTGCTTCTGCTGTGGTCCAGCATTGCATACAGCACTGGCGTCTGGGGGAGGGGCGCACACATCAGTCACCGAGCGACTGGGGCTTGACTGTTCCCATCCCACCCCTCACTGCTGCCCGGCGGCTCCCAGGGTTCTCCTTCCCATCTTGTCTAGGCCCCAAGTCCCGCTAACCTGCCGCCCGCGCTTCGACGCGTCCTTTCCTGGCTTGTGCAATTTCCCCTTCTCCATAGCACTGCAAGAAGAGAGACTGCTGTACGTTTGGCCTCGCCGGAACCCCTTGCACCGCGGACACAGCTTCCTCTTCCCCTTGGCCCTCCCACCCACTGGAGTAGTCTCCGCCCAGATGGGGGATAGTGGGGAGAGGGGGAGGGGAGCTAGGCTCCGCCCCTTACCTGAGCCTCCTCTGCAGGGCCGCCTGCCTGCGTAGCCAGCAGTACCGAACCACGTAGAAAAGCAGCAGCAGCAACAGCACCACCCGGAGGACACCCCCGATCACAGCTCCCAGAACGACCCCGTACCTAGTTGGCACTAGGAGGGGTGGGAAAAGAAGTGGGAGAATGAGCAGGGCCCTGTATCTGTGGTTCCTAGTCCGAGTGTATGCCCTGCATTGAGGATGTAGGACTCCCAGCTAAAACTGCCTTCTGCCCACGCTCCCAGAGCCTGAATAAAGGTCCTTAGGCCGGGCTTTTTGCCTCTTCCCCCAACCTATCAGTCCTCCCTGATCCCCTCCCAAACTGCTTCCCATACCCTTGTCCCCATCCCTTCTCACACCTTTTTCAAAGACATACAGCGTGACCTGAGAGGTCTTGCCCACTATGTCTGGAGGGTTTTTGACGTCACAAGTGAACGTGCCATTGTCACTGTAGTCTAGGTTGTGTATGACAATGGAGCCATCCTTCCAGCGAGGGTCCCCTACCCACTGGATGCGCTCTTTGAAGGTCCCCACCTCGTCAATGTAGGGTTGTCCCTTGGCATAGTGGAAGATCTATGAGGAATGAGGGGAAGCATGTGAGAGGACCCTAATGAGAACACAGCTGTCAAAGCTTAGCTCCATAATTTGTTACAGAAAGAAAAAAGCAAAAAAAAAAAAAAAAAAAAAAAAGCTTCGCTCCAGCCTCAGGGTAAGGGATCTTGGGCTGGAAAGGGTAGTGCTGGAGAAGGGAGGACAATGTAGTCAGGGTGACAAAGACTGTCATTTACCTTGCCAAAGTTGGGGTTATGGCTCAAAAAGGATTTCCCCCTCCTTAGCCCAAGTTATCTTTTTTGTTGTTCTTTGAAGCACTTTCTGTTATCCAACCCCAGGATTCCCCCAGGCACTCACCGAAATGGCATCTCTGCCCCCTTCGGGCTGGTAGCGCCAGGTGAAGGAGATGTCATCTGAGACCCACTCACTGGACCAGAAGGAGCAGTGCAGGGTCACCCGGGAGCCCACAGCACCATGGACCTCCCTGTCGGTGTAAACCACGATGGCCTGGGCCGGGGACAGCACTGCAAGCACAAAGTGGGGAATCAGATGCACCTATGGGCCCAGTAAGGGATACAGAGGAAGTGAGATCAGTAGGAAATCAAGTGCTGAGTCACAGGTCAGAGGCCAATTTGGAAAAGAAACAACAAATTCTGAGCCCCAAGTCTCTGGGGACTAACTGAACAGATGAGCATAAATGCTGTGTCTGTCAAGCTCTTTAGCATGTCTGTAGAGAAGATGAAATCAGCAGTAACAGAATTCTCTTGAGGACTTCCAGAGATTGGGTTCTGTCTTTAAGTCTCACTTCTCCTTTGGGTCAGTATCTAACTTTTAAGCTATCCTTTAGATGCAGTGTTCTAAATTTTTAAAATTTATTATAAATTATACAGGTAATACATATTGTACTCTTCTTATAAACTATTCAAGCAATAGAAATAAAACAAAAGTCTCCTTTGACACTTAGCCCAACAAATTCCTTTCCTGTATTCCCTTCCAAGATGTAACAAGTTATCCATTTAATATGAATCAAACTCAGTATAAACTCAATAAACTCAAGATATACACATACTTACAACAAATAGTTTTGTGGAGTTTTTTTTTCCACATACATATTGCATTGTATTCTAGTGTCTTTTTGCTTAAGAACTTACGTATCTGGAGGAGCTTTCCCTGTTGATTCATAGATATCAATCTTATTTTAACAGCTGCATTGGATTTCACAATACAGCAAACTCAGATTTCTTGCAGAAAAAAATGAAGATAACTAGAAAATATAAGTCTTCTTCCCTGGCACAACTGTCCTCATTGCTGAATCCCTGGTTGCCATACAGCTTGCTCTTGACTGGAGAGTCAGGAAGGGAAGGGCCTCATACCCCTCTCAGCTGGGTGCAGAGCAACACCCCAAGCCTACAGCTCAGATGACCCTACATGTGAGCCCTCTATGGTTCAACTGTCCTCACCTTCCTCTTGGCCACTGTGGCCCAGTGCCATCCCCAAGACTTACCCACACAAGGAAGGTCATTCCAGAGAGACTATGTGTGTGGGCTGGCCCCAGGGAGGG
Task1_train_1996
With a mutation on Chromosome 1 in gene MPZ (myelin protein zero), classify this variant as benign or pathogenic. Include the disease if it's pathogenic.
Pathogenic; Charcot-Marie-Tooth disease dominant intermediate D
CATTATCTCAGTTGTTTACAAGTACATAAACAAGCTTACCAAAGTCAGGTAACTGTCCTGGGGATCACACAGCTAGAGAGTGGCTGGGATGTTTTAAAATTCAGATCTTGGTGAAGACAGATTCTGCGTTTTAACTCATGTAAAAGCAGAGACTGGCAGAGTTTACAACGTAGTATAATCTCACTGATTATTTGCTGAAGGTATGAATGTGTCTTGTGAGGCTATTTCAGAGTTCTTTCTAGTATACTATATAAGCCCACCCCAAAAAAACAAACTAAACAACTGAAGCCAAGTATGGAAGGTTGGGGATGGGATAAGGGGCAGGAATTATTCCCAGGAGGACTAGGAAATTCTAGACAAGGCAGCAGCTTCTGGAAATGTCAGTGTTTATTAAACATTTAAGGACATTTGGAGGTTTGAGAAGAAATATACAGAATGTAGAAAAATCCTAAGAATCCCCTGTGGCTGCAGTGCAGCCTCTTCCTCCCCCCCGCCCCCCCATTTCCCATTTGTTTTTCCTGCTTTTTGTTTGGTTGTTTAAAAACCATTTCTTAAGGCTCATTTGCCCCCTCCCCCACTCCCTGACCTATGAGGATCCATTCTCTCTCTCTGTCTCTCTCCTCAAGACCTGGAGTCCCAGAACAGTGCTCCAAAGTGGTCAGGGGGAACCAATGCTATACTGAAGTGTGAGGATCAGGGGCCCCTCTACTTGGGCTGGCTCTTCATTAAGGACTTAAGGGGGGCGTGAATTGCAAAAGCCACATGACGTCATTGGTCCTCAGTCATGGGTGTAAGGGCAGAGGATGAGCACAGGTAAACAAACAAAGAATGGATTAAAAAATAAAAAATAATAACCTAAATAAACCCTGAAGGAGAGTCTGATCTGGGTGCTCTGGGTATTAGCTGGGGGGACAGAGTATGGAGCTGGGCCACCTGGTAGAGGGGAGGGAGGGACGGGAGAGGAAACAGCCAGGGGGACAGGCTGGGGGATGCAGGAGATGGGAATGCCAGGTGGCCTGGACTTGAGGCAGAGGGTATCAAAGTCCCTTTCTTCTCAGTGCTCAGGTGGACAGGCACCAAACACACAGCCCCCGGGGCAGGTGAGGGGTAGGATTAGCTCCTGGGCTCCCAGAAAGCCAGGGGTGAAGGTGGGGGAGAATACAATTGCCTGGGGAATGAATTCTGGAATGAAACTTACATCTCAAAGGGAGGTGAGGGCAGGGCAGGGCGGGGGAGCAAAGAGGGAAAGCACCTAGACGGGGGTAAGAGGAGCCTAGGTCCCCCTGCTCTGGCAGGGCCTGGGGTGGGGGGGTGGCGATCACTTGTCCGAGTTCAGGCCCATCATGTTCTTGAGGGCGTTTTTGAGGCTGGTTCTGCTGGGGGACTTGACAGCAGGCCGGAGCTCCGGGCTCTGCTCATCCTTTCGTAGCTCCATCTCGATGACCATCACCTTTGGGCCTTTGGCGGACTCCACCCCTAACCCCCGATCCCCCGCCCGGCCCGCTAACCGCTATTTCTTATCCTTGCGAGACTCCCCCAGCCCCTTGGCCTTCTTCTCACTGACAGCTTTGGTGCTTCTGCTGTGGTCCAGCATTGCATACAGCACTGGCGTCTGGGGGAGGGGCGCACACATCAGTCACCGAGCGACTGGGGCTTGACTGTTCCCATCCCACCCCTCACTGCTGCCCGGCGGCTCCCAGGGTTCTCCTTCCCATCTTGTCTAGGCCCCAAGTCCCGCTAACCTGCCGCCCGCGCTTCGACGCGTCCTTTCCTGGCTTGTGCAATTTCCCCTTCTCCATAGCACTGCAAGAAGAGAGACTGCTGTACGTTTGGCCTCGCCGGAACCCCTTGCACCGCGGACACAGCTTCCTCTTCCCCTTGGCCCTCCCACCCACTGGAGTAGTCTCCGCCCAGATGGGGGATAGTGGGGAGAGGGGGAGGGGAGCTAGGCTCCGCCCCTTACCTGAGCCTCCTCTGCAGGGCCGCCTGCCTGCGTAGCCAGCAGTACCGAACCACGTAGAAAAGCAGCAGCAGCAACAGCACCACCCCGAGGACACCCCCGATCACAGCTCCCAGAACGACCCCGTACCTAGTTGGCACTAGGAGGGGTGGGAAAAGAAGTGGGAGAATGAGCAGGGCCCTGTATCTGTGGTTCCTAGTCCGAGTGTATGCCCTGCATTGAGGATGTAGGACTCCCAGCTAAAACTGCCTTCTGCCCACGCTCCCAGAGCCTGAATAAAGGTCCTTAGGCCGGGCTTTTTGCCTCTTCCCCCAACCTATCAGTCCTCCCTGATCCCCTCCCAAACTGCTTCCCATACCCTTGTCCCCATCCCTTCTCACACCTTTTTCAAAGACATACAGCGTGACCTGAGAGGTCTTGCCCACTATGTCTGGAGGGTTTTTGACGTCACAAGTGAACGTGCCATTGTCACTGTAGTCTAGGTTGTGTATGACAATGGAGCCATCCTTCCAGCGAGGGTCCCCTACCCACTGGATGCGCTCTTTGAAGGTCCCCACCTCGTCAATGTAGGGTTGTCCCTTGGCATAGTGGAAGATCTATGAGGAATGAGGGGAAGCATGTGAGAGGACCCTAATGAGAACACAGCTGTCAAAGCTTAGCTCCATAATTTGTTACAGAAAGAAAAAAGCAAAAAAAAAAAAAAAAAAAAAAAAGCTTCGCTCCAGCCTCAGGGTAAGGGATCTTGGGCTGGAAAGGGTAGTGCTGGAGAAGGGAGGACAATGTAGTCAGGGTGACAAAGACTGTCATTTACCTTGCCAAAGTTGGGGTTATGGCTCAAAAAGGATTTCCCCCTCCTTAGCCCAAGTTATCTTTTTTGTTGTTCTTTGAAGCACTTTCTGTTATCCAACCCCAGGATTCCCCCAGGCACTCACCGAAATGGCATCTCTGCCCCCTTCGGGCTGGTAGCGCCAGGTGAAGGAGATGTCATCTGAGACCCACTCACTGGACCAGAAGGAGCAGTGCAGGGTCACCCGGGAGCCCACAGCACCATGGACCTCCCTGTCGGTGTAAACCACGATGGCCTGGGCCGGGGACAGCACTGCAAGCACAAAGTGGGGAATCAGATGCACCTATGGGCCCAGTAAGGGATACAGAGGAAGTGAGATCAGTAGGAAATCAAGTGCTGAGTCACAGGTCAGAGGCCAATTTGGAAAAGAAACAACAAATTCTGAGCCCCAAGTCTCTGGGGACTAACTGAACAGATGAGCATAAATGCTGTGTCTGTCAAGCTCTTTAGCATGTCTGTAGAGAAGATGAAATCAGCAGTAACAGAATTCTCTTGAGGACTTCCAGAGATTGGGTTCTGTCTTTAAGTCTCACTTCTCCTTTGGGTCAGTATCTAACTTTTAAGCTATCCTTTAGATGCAGTGTTCTAAATTTTTAAAATTTATTATAAATTATACAGGTAATACATATTGTACTCTTCTTATAAACTATTCAAGCAATAGAAATAAAACAAAAGTCTCCTTTGACACTTAGCCCAACAAATTCCTTTCCTGTATTCCCTTCCAAGATGTAACAAGTTATCCATTTAATATGAATCAAACTCAGTATAAACTCAATAAACTCAAGATATACACATACTTACAACAAATAGTTTTGTGGAGTTTTTTTTTCCACATACATATTGCATTGTATTCTAGTGTCTTTTTGCTTAAGAACTTACGTATCTGGAGGAGCTTTCCCTGTTGATTCATAGATATCAATCTTATTTTAACAGCTGCATTGGATTTCACAATACAGCAAACTCAGATTTCTTGCAGAAAAAAATGAAGATAACTAGAAAATATAAGTCTTCTTCCCTGGCACAACTGTCCTCATTGCTGAATCCCTGGTTGCCATACAGCTTGCTCTTGACTGGAGAGTCAGGAAGGGAAGGGCCTCATACCCCTCTCAGCTGGGTGCAGAGCAACACCCCAAGCCTACAGCTCAGATGACCCTACATGTGAGCCCTCTATGGTTCAACTGTCCTCACCTTCCTCTTGGCCACTGTGGCCCAGTGCCATCCCCAAGACTTACCCACACAAGGAAGGTCATTCCAGAGAGACTATGTGTGTGGGCTGGCCCCAGGGAGGG
CATTATCTCAGTTGTTTACAAGTACATAAACAAGCTTACCAAAGTCAGGTAACTGTCCTGGGGATCACACAGCTAGAGAGTGGCTGGGATGTTTTAAAATTCAGATCTTGGTGAAGACAGATTCTGCGTTTTAACTCATGTAAAAGCAGAGACTGGCAGAGTTTACAACGTAGTATAATCTCACTGATTATTTGCTGAAGGTATGAATGTGTCTTGTGAGGCTATTTCAGAGTTCTTTCTAGTATACTATATAAGCCCACCCCAAAAAAACAAACTAAACAACTGAAGCCAAGTATGGAAGGTTGGGGATGGGATAAGGGGCAGGAATTATTCCCAGGAGGACTAGGAAATTCTAGACAAGGCAGCAGCTTCTGGAAATGTCAGTGTTTATTAAACATTTAAGGACATTTGGAGGTTTGAGAAGAAATATACAGAATGTAGAAAAATCCTAAGAATCCCCTGTGGCTGCAGTGCAGCCTCTTCCTCCCCCCCGCCCCCCCATTTCCCATTTGTTTTTCCTGCTTTTTGTTTGGTTGTTTAAAAACCATTTCTTAAGGCTCATTTGCCCCCTCCCCCACTCCCTGACCTATGAGGATCCATTCTCTCTCTCTGTCTCTCTCCTCAAGACCTGGAGTCCCAGAACAGTGCTCCAAAGTGGTCAGGGGGAACCAATGCTATACTGAAGTGTGAGGATCAGGGGCCCCTCTACTTGGGCTGGCTCTTCATTAAGGACTTAAGGGGGGCGTGAATTGCAAAAGCCACATGACGTCATTGGTCCTCAGTCATGGGTGTAAGGGCAGAGGATGAGCACAGGTAAACAAACAAAGAATGGATTAAAAAATAAAAAATAATAACCTAAATAAACCCTGAAGGAGAGTCTGATCTGGGTGCTCTGGGTATTAGCTGGGGGGACAGAGTATGGAGCTGGGCCACCTGGTAGAGGGGAGGGAGGGACGGGAGAGGAAACAGCCAGGGGGACAGGCTGGGGGATGCAGGAGATGGGAATGCCAGGTGGCCTGGACTTGAGGCAGAGGGTATCAAAGTCCCTTTCTTCTCAGTGCTCAGGTGGACAGGCACCAAACACACAGCCCCCGGGGCAGGTGAGGGGTAGGATTAGCTCCTGGGCTCCCAGAAAGCCAGGGGTGAAGGTGGGGGAGAATACAATTGCCTGGGGAATGAATTCTGGAATGAAACTTACATCTCAAAGGGAGGTGAGGGCAGGGCAGGGCGGGGGAGCAAAGAGGGAAAGCACCTAGACGGGGGTAAGAGGAGCCTAGGTCCCCCTGCTCTGGCAGGGCCTGGGGTGGGGGGGTGGCGATCACTTGTCCGAGTTCAGGCCCATCATGTTCTTGAGGGCGTTTTTGAGGCTGGTTCTGCTGGGGGACTTGACAGCAGGCCGGAGCTCCGGGCTCTGCTCATCCTTTCGTAGCTCCATCTCGATGACCATCACCTTTGGGCCTTTGGCGGACTCCACCCCTAACCCCCGATCCCCCGCCCGGCCCGCTAACCGCTATTTCTTATCCTTGCGAGACTCCCCCAGCCCCTTGGCCTTCTTCTCACTGACAGCTTTGGTGCTTCTGCTGTGGTCCAGCATTGCATACAGCACTGGCGTCTGGGGGAGGGGCGCACACATCAGTCACCGAGCGACTGGGGCTTGACTGTTCCCATCCCACCCCTCACTGCTGCCCGGCGGCTCCCAGGGTTCTCCTTCCCATCTTGTCTAGGCCCCAAGTCCCGCTAACCTGCCGCCCGCGCTTCGACGCGTCCTTTCCTGGCTTGTGCAATTTCCCCTTCTCCATAGCACTGCAAGAAGAGAGACTGCTGTACGTTTGGCCTCGCCGGAACCCCTTGCACCGCGGACACAGCTTCCTCTTCCCCTTGGCCCTCCCACCCACTGGAGTAGTCTCCGCCCAGATGGGGGATAGTGGGGAGAGGGGGAGGGGAGCTAGGCTCCGCCCCTTACCTGAGCCTCCTCTGCAGGGCCGCCTGCCTGCGTAGCCAGCAGTACCGAACCACGTAGAAAAGCAGCAGCAGCAACAGCACCACCCGGAGGACACCCCCGATCACAGCTCCCAGAACGACCCCGTACCTAGTTGGCACTAGGAGGGGTGGGAAAAGAAGTGGGAGAATGAGCAGGGCCCTGTATCTGTGGTTCCTAGTCCGAGTGTATGCCCTGCATTGAGGATGTAGGACTCCCAGCTAAAACTGCCTTCTGCCCACGCTCCCAGAGCCTGAATAAAGGTCCTTAGGCCGGGCTTTTTGCCTCTTCCCCCAACCTATCAGTCCTCCCTGATCCCCTCCCAAACTGCTTCCCATACCCTTGTCCCCATCCCTTCTCACACCTTTTTCAAAGACATACAGCGTGACCTGAGAGGTCTTGCCCACTATGTCTGGAGGGTTTTTGACGTCACAAGTGAACGTGCCATTGTCACTGTAGTCTAGGTTGTGTATGACAATGGAGCCATCCTTCCAGCGAGGGTCCCCTACCCACTGGATGCGCTCTTTGAAGGTCCCCACCTCGTCAATGTAGGGTTGTCCCTTGGCATAGTGGAAGATCTATGAGGAATGAGGGGAAGCATGTGAGAGGACCCTAATGAGAACACAGCTGTCAAAGCTTAGCTCCATAATTTGTTACAGAAAGAAAAAAGCAAAAAAAAAAAAAAAAAAAAAAAAGCTTCGCTCCAGCCTCAGGGTAAGGGATCTTGGGCTGGAAAGGGTAGTGCTGGAGAAGGGAGGACAATGTAGTCAGGGTGACAAAGACTGTCATTTACCTTGCCAAAGTTGGGGTTATGGCTCAAAAAGGATTTCCCCCTCCTTAGCCCAAGTTATCTTTTTTGTTGTTCTTTGAAGCACTTTCTGTTATCCAACCCCAGGATTCCCCCAGGCACTCACCGAAATGGCATCTCTGCCCCCTTCGGGCTGGTAGCGCCAGGTGAAGGAGATGTCATCTGAGACCCACTCACTGGACCAGAAGGAGCAGTGCAGGGTCACCCGGGAGCCCACAGCACCATGGACCTCCCTGTCGGTGTAAACCACGATGGCCTGGGCCGGGGACAGCACTGCAAGCACAAAGTGGGGAATCAGATGCACCTATGGGCCCAGTAAGGGATACAGAGGAAGTGAGATCAGTAGGAAATCAAGTGCTGAGTCACAGGTCAGAGGCCAATTTGGAAAAGAAACAACAAATTCTGAGCCCCAAGTCTCTGGGGACTAACTGAACAGATGAGCATAAATGCTGTGTCTGTCAAGCTCTTTAGCATGTCTGTAGAGAAGATGAAATCAGCAGTAACAGAATTCTCTTGAGGACTTCCAGAGATTGGGTTCTGTCTTTAAGTCTCACTTCTCCTTTGGGTCAGTATCTAACTTTTAAGCTATCCTTTAGATGCAGTGTTCTAAATTTTTAAAATTTATTATAAATTATACAGGTAATACATATTGTACTCTTCTTATAAACTATTCAAGCAATAGAAATAAAACAAAAGTCTCCTTTGACACTTAGCCCAACAAATTCCTTTCCTGTATTCCCTTCCAAGATGTAACAAGTTATCCATTTAATATGAATCAAACTCAGTATAAACTCAATAAACTCAAGATATACACATACTTACAACAAATAGTTTTGTGGAGTTTTTTTTTCCACATACATATTGCATTGTATTCTAGTGTCTTTTTGCTTAAGAACTTACGTATCTGGAGGAGCTTTCCCTGTTGATTCATAGATATCAATCTTATTTTAACAGCTGCATTGGATTTCACAATACAGCAAACTCAGATTTCTTGCAGAAAAAAATGAAGATAACTAGAAAATATAAGTCTTCTTCCCTGGCACAACTGTCCTCATTGCTGAATCCCTGGTTGCCATACAGCTTGCTCTTGACTGGAGAGTCAGGAAGGGAAGGGCCTCATACCCCTCTCAGCTGGGTGCAGAGCAACACCCCAAGCCTACAGCTCAGATGACCCTACATGTGAGCCCTCTATGGTTCAACTGTCCTCACCTTCCTCTTGGCCACTGTGGCCCAGTGCCATCCCCAAGACTTACCCACACAAGGAAGGTCATTCCAGAGAGACTATGTGTGTGGGCTGGCCCCAGGGAGGG
Task1_train_1997
Gene MPZ (myelin protein zero) on Chromosome 1 is altered by this variant. Does this mutation result in a disease or is it benign?
Pathogenic; Charcot-Marie-Tooth disease type 1B
CATTATCTCAGTTGTTTACAAGTACATAAACAAGCTTACCAAAGTCAGGTAACTGTCCTGGGGATCACACAGCTAGAGAGTGGCTGGGATGTTTTAAAATTCAGATCTTGGTGAAGACAGATTCTGCGTTTTAACTCATGTAAAAGCAGAGACTGGCAGAGTTTACAACGTAGTATAATCTCACTGATTATTTGCTGAAGGTATGAATGTGTCTTGTGAGGCTATTTCAGAGTTCTTTCTAGTATACTATATAAGCCCACCCCAAAAAAACAAACTAAACAACTGAAGCCAAGTATGGAAGGTTGGGGATGGGATAAGGGGCAGGAATTATTCCCAGGAGGACTAGGAAATTCTAGACAAGGCAGCAGCTTCTGGAAATGTCAGTGTTTATTAAACATTTAAGGACATTTGGAGGTTTGAGAAGAAATATACAGAATGTAGAAAAATCCTAAGAATCCCCTGTGGCTGCAGTGCAGCCTCTTCCTCCCCCCCGCCCCCCCATTTCCCATTTGTTTTTCCTGCTTTTTGTTTGGTTGTTTAAAAACCATTTCTTAAGGCTCATTTGCCCCCTCCCCCACTCCCTGACCTATGAGGATCCATTCTCTCTCTCTGTCTCTCTCCTCAAGACCTGGAGTCCCAGAACAGTGCTCCAAAGTGGTCAGGGGGAACCAATGCTATACTGAAGTGTGAGGATCAGGGGCCCCTCTACTTGGGCTGGCTCTTCATTAAGGACTTAAGGGGGGCGTGAATTGCAAAAGCCACATGACGTCATTGGTCCTCAGTCATGGGTGTAAGGGCAGAGGATGAGCACAGGTAAACAAACAAAGAATGGATTAAAAAATAAAAAATAATAACCTAAATAAACCCTGAAGGAGAGTCTGATCTGGGTGCTCTGGGTATTAGCTGGGGGGACAGAGTATGGAGCTGGGCCACCTGGTAGAGGGGAGGGAGGGACGGGAGAGGAAACAGCCAGGGGGACAGGCTGGGGGATGCAGGAGATGGGAATGCCAGGTGGCCTGGACTTGAGGCAGAGGGTATCAAAGTCCCTTTCTTCTCAGTGCTCAGGTGGACAGGCACCAAACACACAGCCCCCGGGGCAGGTGAGGGGTAGGATTAGCTCCTGGGCTCCCAGAAAGCCAGGGGTGAAGGTGGGGGAGAATACAATTGCCTGGGGAATGAATTCTGGAATGAAACTTACATCTCAAAGGGAGGTGAGGGCAGGGCAGGGCGGGGGAGCAAAGAGGGAAAGCACCTAGACGGGGGTAAGAGGAGCCTAGGTCCCCCTGCTCTGGCAGGGCCTGGGGTGGGGGGGTGGCGATCACTTGTCCGAGTTCAGGCCCATCATGTTCTTGAGGGCGTTTTTGAGGCTGGTTCTGCTGGGGGACTTGACAGCAGGCCGGAGCTCCGGGCTCTGCTCATCCTTTCGTAGCTCCATCTCGATGACCATCACCTTTGGGCCTTTGGCGGACTCCACCCCTAACCCCCGATCCCCCGCCCGGCCCGCTAACCGCTATTTCTTATCCTTGCGAGACTCCCCCAGCCCCTTGGCCTTCTTCTCACTGACAGCTTTGGTGCTTCTGCTGTGGTCCAGCATTGCATACAGCACTGGCGTCTGGGGGAGGGGCGCACACATCAGTCACCGAGCGACTGGGGCTTGACTGTTCCCATCCCACCCCTCACTGCTGCCCGGCGGCTCCCAGGGTTCTCCTTCCCATCTTGTCTAGGCCCCAAGTCCCGCTAACCTGCCGCCCGCGCTTCGACGCGTCCTTTCCTGGCTTGTGCAATTTCCCCTTCTCCATAGCACTGCAAGAAGAGAGACTGCTGTACGTTTGGCCTCGCCGGAACCCCTTGCACCGCGGACACAGCTTCCTCTTCCCCTTGGCCCTCCCACCCACTGGAGTAGTCTCCGCCCAGATGGGGGATAGTGGGGAGAGGGGGAGGGGAGCTAGGCTCCGCCCCTTACCTGAGCCTCCTCTGCAGGGCCGCCTGCCTGCGTAGCCAGCAGTACCGAACCACGTAGAAAAGCAGCAGCAGCAACAGCACCACCCCGAGGACACCCCCGATCACAGCTCCCAGAACGACCCCGTACCTAGTTGGCACTAGGAGGGGTGGGAAAAGAAGTGGGAGAATGAGCAGGGCCCTGTATCTGTGGTTCCTAGTCCGAGTGTATGCCCTGCATTGAGGATGTAGGACTCCCAGCTAAAACTGCCTTCTGCCCACGCTCCCAGAGCCTGAATAAAGGTCCTTAGGCCGGGCTTTTTGCCTCTTCCCCCAACCTATCAGTCCTCCCTGATCCCCTCCCAAACTGCTTCCCATACCCTTGTCCCCATCCCTTCTCACACCTTTTTCAAAGACATACAGCGTGACCTGAGAGGTCTTGCCCACTATGTCTGGAGGGTTTTTGACGTCACAAGTGAACGTGCCATTGTCACTGTAGTCTAGGTTGTGTATGACAATGGAGCCATCCTTCCAGCGAGGGTCCCCTACCCACTGGATGCGCTCTTTGAAGGTCCCCACCTCGTCAATGTAGGGTTGTCCCTTGGCATAGTGGAAGATCTATGAGGAATGAGGGGAAGCATGTGAGAGGACCCTAATGAGAACACAGCTGTCAAAGCTTAGCTCCATAATTTGTTACAGAAAGAAAAAAGCAAAAAAAAAAAAAAAAAAAAAAAAGCTTCGCTCCAGCCTCAGGGTAAGGGATCTTGGGCTGGAAAGGGTAGTGCTGGAGAAGGGAGGACAATGTAGTCAGGGTGACAAAGACTGTCATTTACCTTGCCAAAGTTGGGGTTATGGCTCAAAAAGGATTTCCCCCTCCTTAGCCCAAGTTATCTTTTTTGTTGTTCTTTGAAGCACTTTCTGTTATCCAACCCCAGGATTCCCCCAGGCACTCACCGAAATGGCATCTCTGCCCCCTTCGGGCTGGTAGCGCCAGGTGAAGGAGATGTCATCTGAGACCCACTCACTGGACCAGAAGGAGCAGTGCAGGGTCACCCGGGAGCCCACAGCACCATGGACCTCCCTGTCGGTGTAAACCACGATGGCCTGGGCCGGGGACAGCACTGCAAGCACAAAGTGGGGAATCAGATGCACCTATGGGCCCAGTAAGGGATACAGAGGAAGTGAGATCAGTAGGAAATCAAGTGCTGAGTCACAGGTCAGAGGCCAATTTGGAAAAGAAACAACAAATTCTGAGCCCCAAGTCTCTGGGGACTAACTGAACAGATGAGCATAAATGCTGTGTCTGTCAAGCTCTTTAGCATGTCTGTAGAGAAGATGAAATCAGCAGTAACAGAATTCTCTTGAGGACTTCCAGAGATTGGGTTCTGTCTTTAAGTCTCACTTCTCCTTTGGGTCAGTATCTAACTTTTAAGCTATCCTTTAGATGCAGTGTTCTAAATTTTTAAAATTTATTATAAATTATACAGGTAATACATATTGTACTCTTCTTATAAACTATTCAAGCAATAGAAATAAAACAAAAGTCTCCTTTGACACTTAGCCCAACAAATTCCTTTCCTGTATTCCCTTCCAAGATGTAACAAGTTATCCATTTAATATGAATCAAACTCAGTATAAACTCAATAAACTCAAGATATACACATACTTACAACAAATAGTTTTGTGGAGTTTTTTTTTCCACATACATATTGCATTGTATTCTAGTGTCTTTTTGCTTAAGAACTTACGTATCTGGAGGAGCTTTCCCTGTTGATTCATAGATATCAATCTTATTTTAACAGCTGCATTGGATTTCACAATACAGCAAACTCAGATTTCTTGCAGAAAAAAATGAAGATAACTAGAAAATATAAGTCTTCTTCCCTGGCACAACTGTCCTCATTGCTGAATCCCTGGTTGCCATACAGCTTGCTCTTGACTGGAGAGTCAGGAAGGGAAGGGCCTCATACCCCTCTCAGCTGGGTGCAGAGCAACACCCCAAGCCTACAGCTCAGATGACCCTACATGTGAGCCCTCTATGGTTCAACTGTCCTCACCTTCCTCTTGGCCACTGTGGCCCAGTGCCATCCCCAAGACTTACCCACACAAGGAAGGTCATTCCAGAGAGACTATGTGTGTGGGCTGGCCCCAGGGAGGG
CATTATCTCAGTTGTTTACAAGTACATAAACAAGCTTACCAAAGTCAGGTAACTGTCCTGGGGATCACACAGCTAGAGAGTGGCTGGGATGTTTTAAAATTCAGATCTTGGTGAAGACAGATTCTGCGTTTTAACTCATGTAAAAGCAGAGACTGGCAGAGTTTACAACGTAGTATAATCTCACTGATTATTTGCTGAAGGTATGAATGTGTCTTGTGAGGCTATTTCAGAGTTCTTTCTAGTATACTATATAAGCCCACCCCAAAAAAACAAACTAAACAACTGAAGCCAAGTATGGAAGGTTGGGGATGGGATAAGGGGCAGGAATTATTCCCAGGAGGACTAGGAAATTCTAGACAAGGCAGCAGCTTCTGGAAATGTCAGTGTTTATTAAACATTTAAGGACATTTGGAGGTTTGAGAAGAAATATACAGAATGTAGAAAAATCCTAAGAATCCCCTGTGGCTGCAGTGCAGCCTCTTCCTCCCCCCCGCCCCCCCATTTCCCATTTGTTTTTCCTGCTTTTTGTTTGGTTGTTTAAAAACCATTTCTTAAGGCTCATTTGCCCCCTCCCCCACTCCCTGACCTATGAGGATCCATTCTCTCTCTCTGTCTCTCTCCTCAAGACCTGGAGTCCCAGAACAGTGCTCCAAAGTGGTCAGGGGGAACCAATGCTATACTGAAGTGTGAGGATCAGGGGCCCCTCTACTTGGGCTGGCTCTTCATTAAGGACTTAAGGGGGGCGTGAATTGCAAAAGCCACATGACGTCATTGGTCCTCAGTCATGGGTGTAAGGGCAGAGGATGAGCACAGGTAAACAAACAAAGAATGGATTAAAAAATAAAAAATAATAACCTAAATAAACCCTGAAGGAGAGTCTGATCTGGGTGCTCTGGGTATTAGCTGGGGGGACAGAGTATGGAGCTGGGCCACCTGGTAGAGGGGAGGGAGGGACGGGAGAGGAAACAGCCAGGGGGACAGGCTGGGGGATGCAGGAGATGGGAATGCCAGGTGGCCTGGACTTGAGGCAGAGGGTATCAAAGTCCCTTTCTTCTCAGTGCTCAGGTGGACAGGCACCAAACACACAGCCCCCGGGGCAGGTGAGGGGTAGGATTAGCTCCTGGGCTCCCAGAAAGCCAGGGGTGAAGGTGGGGGAGAATACAATTGCCTGGGGAATGAATTCTGGAATGAAACTTACATCTCAAAGGGAGGTGAGGGCAGGGCAGGGCGGGGGAGCAAAGAGGGAAAGCACCTAGACGGGGGTAAGAGGAGCCTAGGTCCCCCTGCTCTGGCAGGGCCTGGGGTGGGGGGGTGGCGATCACTTGTCCGAGTTCAGGCCCATCATGTTCTTGAGGGCGTTTTTGAGGCTGGTTCTGCTGGGGGACTTGACAGCAGGCCGGAGCTCCGGGCTCTGCTCATCCTTTCGTAGCTCCATCTCGATGACCATCACCTTTGGGCCTTTGGCGGACTCCACCCCTAACCCCCGATCCCCCGCCCGGCCCGCTAACCGCTATTTCTTATCCTTGCGAGACTCCCCCAGCCCCTTGGCCTTCTTCTCACTGACAGCTTTGGTGCTTCTGCTGTGGTCCAGCATTGCATACAGCACTGGCGTCTGGGGGAGGGGCGCACACATCAGTCACCGAGCGACTGGGGCTTGACTGTTCCCATCCCACCCCTCACTGCTGCCCGGCGGCTCCCAGGGTTCTCCTTCCCATCTTGTCTAGGCCCCAAGTCCCGCTAACCTGCCGCCCGCGCTTCGACGCGTCCTTTCCTGGCTTGTGCAATTTCCCCTTCTCCATAGCACTGCAAGAAGAGAGACTGCTGTACGTTTGGCCTCGCCGGAACCCCTTGCACCGCGGACACAGCTTCCTCTTCCCCTTGGCCCTCCCACCCACTGGAGTAGTCTCCGCCCAGATGGGGGATAGTGGGGAGAGGGGGAGGGGAGCTAGGCTCCGCCCCTTACCTGAGCCTCCTCTGCAGGGCCGCCTGCCTGCGTAGCCAGCAGTACCGAACCACGTAGAAAAGCAGCAGCAGCAACAGCACCACCCGGAGGACACCCCCGATCACAGCTCCCAGAACGACCCCGTACCTAGTTGGCACTAGGAGGGGTGGGAAAAGAAGTGGGAGAATGAGCAGGGCCCTGTATCTGTGGTTCCTAGTCCGAGTGTATGCCCTGCATTGAGGATGTAGGACTCCCAGCTAAAACTGCCTTCTGCCCACGCTCCCAGAGCCTGAATAAAGGTCCTTAGGCCGGGCTTTTTGCCTCTTCCCCCAACCTATCAGTCCTCCCTGATCCCCTCCCAAACTGCTTCCCATACCCTTGTCCCCATCCCTTCTCACACCTTTTTCAAAGACATACAGCGTGACCTGAGAGGTCTTGCCCACTATGTCTGGAGGGTTTTTGACGTCACAAGTGAACGTGCCATTGTCACTGTAGTCTAGGTTGTGTATGACAATGGAGCCATCCTTCCAGCGAGGGTCCCCTACCCACTGGATGCGCTCTTTGAAGGTCCCCACCTCGTCAATGTAGGGTTGTCCCTTGGCATAGTGGAAGATCTATGAGGAATGAGGGGAAGCATGTGAGAGGACCCTAATGAGAACACAGCTGTCAAAGCTTAGCTCCATAATTTGTTACAGAAAGAAAAAAGCAAAAAAAAAAAAAAAAAAAAAAAAGCTTCGCTCCAGCCTCAGGGTAAGGGATCTTGGGCTGGAAAGGGTAGTGCTGGAGAAGGGAGGACAATGTAGTCAGGGTGACAAAGACTGTCATTTACCTTGCCAAAGTTGGGGTTATGGCTCAAAAAGGATTTCCCCCTCCTTAGCCCAAGTTATCTTTTTTGTTGTTCTTTGAAGCACTTTCTGTTATCCAACCCCAGGATTCCCCCAGGCACTCACCGAAATGGCATCTCTGCCCCCTTCGGGCTGGTAGCGCCAGGTGAAGGAGATGTCATCTGAGACCCACTCACTGGACCAGAAGGAGCAGTGCAGGGTCACCCGGGAGCCCACAGCACCATGGACCTCCCTGTCGGTGTAAACCACGATGGCCTGGGCCGGGGACAGCACTGCAAGCACAAAGTGGGGAATCAGATGCACCTATGGGCCCAGTAAGGGATACAGAGGAAGTGAGATCAGTAGGAAATCAAGTGCTGAGTCACAGGTCAGAGGCCAATTTGGAAAAGAAACAACAAATTCTGAGCCCCAAGTCTCTGGGGACTAACTGAACAGATGAGCATAAATGCTGTGTCTGTCAAGCTCTTTAGCATGTCTGTAGAGAAGATGAAATCAGCAGTAACAGAATTCTCTTGAGGACTTCCAGAGATTGGGTTCTGTCTTTAAGTCTCACTTCTCCTTTGGGTCAGTATCTAACTTTTAAGCTATCCTTTAGATGCAGTGTTCTAAATTTTTAAAATTTATTATAAATTATACAGGTAATACATATTGTACTCTTCTTATAAACTATTCAAGCAATAGAAATAAAACAAAAGTCTCCTTTGACACTTAGCCCAACAAATTCCTTTCCTGTATTCCCTTCCAAGATGTAACAAGTTATCCATTTAATATGAATCAAACTCAGTATAAACTCAATAAACTCAAGATATACACATACTTACAACAAATAGTTTTGTGGAGTTTTTTTTTCCACATACATATTGCATTGTATTCTAGTGTCTTTTTGCTTAAGAACTTACGTATCTGGAGGAGCTTTCCCTGTTGATTCATAGATATCAATCTTATTTTAACAGCTGCATTGGATTTCACAATACAGCAAACTCAGATTTCTTGCAGAAAAAAATGAAGATAACTAGAAAATATAAGTCTTCTTCCCTGGCACAACTGTCCTCATTGCTGAATCCCTGGTTGCCATACAGCTTGCTCTTGACTGGAGAGTCAGGAAGGGAAGGGCCTCATACCCCTCTCAGCTGGGTGCAGAGCAACACCCCAAGCCTACAGCTCAGATGACCCTACATGTGAGCCCTCTATGGTTCAACTGTCCTCACCTTCCTCTTGGCCACTGTGGCCCAGTGCCATCCCCAAGACTTACCCACACAAGGAAGGTCATTCCAGAGAGACTATGTGTGTGGGCTGGCCCCAGGGAGGG
Task1_train_1998
A mutation found in MPZ (myelin protein zero) on Chromosome 1 may be clinically relevant. Is it pathogenic or benign, and if the former, which disease is implicated?
Pathogenic; Charcot-Marie-Tooth disease type 2I
CATTATCTCAGTTGTTTACAAGTACATAAACAAGCTTACCAAAGTCAGGTAACTGTCCTGGGGATCACACAGCTAGAGAGTGGCTGGGATGTTTTAAAATTCAGATCTTGGTGAAGACAGATTCTGCGTTTTAACTCATGTAAAAGCAGAGACTGGCAGAGTTTACAACGTAGTATAATCTCACTGATTATTTGCTGAAGGTATGAATGTGTCTTGTGAGGCTATTTCAGAGTTCTTTCTAGTATACTATATAAGCCCACCCCAAAAAAACAAACTAAACAACTGAAGCCAAGTATGGAAGGTTGGGGATGGGATAAGGGGCAGGAATTATTCCCAGGAGGACTAGGAAATTCTAGACAAGGCAGCAGCTTCTGGAAATGTCAGTGTTTATTAAACATTTAAGGACATTTGGAGGTTTGAGAAGAAATATACAGAATGTAGAAAAATCCTAAGAATCCCCTGTGGCTGCAGTGCAGCCTCTTCCTCCCCCCCGCCCCCCCATTTCCCATTTGTTTTTCCTGCTTTTTGTTTGGTTGTTTAAAAACCATTTCTTAAGGCTCATTTGCCCCCTCCCCCACTCCCTGACCTATGAGGATCCATTCTCTCTCTCTGTCTCTCTCCTCAAGACCTGGAGTCCCAGAACAGTGCTCCAAAGTGGTCAGGGGGAACCAATGCTATACTGAAGTGTGAGGATCAGGGGCCCCTCTACTTGGGCTGGCTCTTCATTAAGGACTTAAGGGGGGCGTGAATTGCAAAAGCCACATGACGTCATTGGTCCTCAGTCATGGGTGTAAGGGCAGAGGATGAGCACAGGTAAACAAACAAAGAATGGATTAAAAAATAAAAAATAATAACCTAAATAAACCCTGAAGGAGAGTCTGATCTGGGTGCTCTGGGTATTAGCTGGGGGGACAGAGTATGGAGCTGGGCCACCTGGTAGAGGGGAGGGAGGGACGGGAGAGGAAACAGCCAGGGGGACAGGCTGGGGGATGCAGGAGATGGGAATGCCAGGTGGCCTGGACTTGAGGCAGAGGGTATCAAAGTCCCTTTCTTCTCAGTGCTCAGGTGGACAGGCACCAAACACACAGCCCCCGGGGCAGGTGAGGGGTAGGATTAGCTCCTGGGCTCCCAGAAAGCCAGGGGTGAAGGTGGGGGAGAATACAATTGCCTGGGGAATGAATTCTGGAATGAAACTTACATCTCAAAGGGAGGTGAGGGCAGGGCAGGGCGGGGGAGCAAAGAGGGAAAGCACCTAGACGGGGGTAAGAGGAGCCTAGGTCCCCCTGCTCTGGCAGGGCCTGGGGTGGGGGGGTGGCGATCACTTGTCCGAGTTCAGGCCCATCATGTTCTTGAGGGCGTTTTTGAGGCTGGTTCTGCTGGGGGACTTGACAGCAGGCCGGAGCTCCGGGCTCTGCTCATCCTTTCGTAGCTCCATCTCGATGACCATCACCTTTGGGCCTTTGGCGGACTCCACCCCTAACCCCCGATCCCCCGCCCGGCCCGCTAACCGCTATTTCTTATCCTTGCGAGACTCCCCCAGCCCCTTGGCCTTCTTCTCACTGACAGCTTTGGTGCTTCTGCTGTGGTCCAGCATTGCATACAGCACTGGCGTCTGGGGGAGGGGCGCACACATCAGTCACCGAGCGACTGGGGCTTGACTGTTCCCATCCCACCCCTCACTGCTGCCCGGCGGCTCCCAGGGTTCTCCTTCCCATCTTGTCTAGGCCCCAAGTCCCGCTAACCTGCCGCCCGCGCTTCGACGCGTCCTTTCCTGGCTTGTGCAATTTCCCCTTCTCCATAGCACTGCAAGAAGAGAGACTGCTGTACGTTTGGCCTCGCCGGAACCCCTTGCACCGCGGACACAGCTTCCTCTTCCCCTTGGCCCTCCCACCCACTGGAGTAGTCTCCGCCCAGATGGGGGATAGTGGGGAGAGGGGGAGGGGAGCTAGGCTCCGCCCCTTACCTGAGCCTCCTCTGCAGGGCCGCCTGCCTGCGTAGCCAGCAGTACCGAACCACGTAGAAAAGCAGCAGCAGCAACAGCACCACCCCGAGGACACCCCCGATCACAGCTCCCAGAACGACCCCGTACCTAGTTGGCACTAGGAGGGGTGGGAAAAGAAGTGGGAGAATGAGCAGGGCCCTGTATCTGTGGTTCCTAGTCCGAGTGTATGCCCTGCATTGAGGATGTAGGACTCCCAGCTAAAACTGCCTTCTGCCCACGCTCCCAGAGCCTGAATAAAGGTCCTTAGGCCGGGCTTTTTGCCTCTTCCCCCAACCTATCAGTCCTCCCTGATCCCCTCCCAAACTGCTTCCCATACCCTTGTCCCCATCCCTTCTCACACCTTTTTCAAAGACATACAGCGTGACCTGAGAGGTCTTGCCCACTATGTCTGGAGGGTTTTTGACGTCACAAGTGAACGTGCCATTGTCACTGTAGTCTAGGTTGTGTATGACAATGGAGCCATCCTTCCAGCGAGGGTCCCCTACCCACTGGATGCGCTCTTTGAAGGTCCCCACCTCGTCAATGTAGGGTTGTCCCTTGGCATAGTGGAAGATCTATGAGGAATGAGGGGAAGCATGTGAGAGGACCCTAATGAGAACACAGCTGTCAAAGCTTAGCTCCATAATTTGTTACAGAAAGAAAAAAGCAAAAAAAAAAAAAAAAAAAAAAAAGCTTCGCTCCAGCCTCAGGGTAAGGGATCTTGGGCTGGAAAGGGTAGTGCTGGAGAAGGGAGGACAATGTAGTCAGGGTGACAAAGACTGTCATTTACCTTGCCAAAGTTGGGGTTATGGCTCAAAAAGGATTTCCCCCTCCTTAGCCCAAGTTATCTTTTTTGTTGTTCTTTGAAGCACTTTCTGTTATCCAACCCCAGGATTCCCCCAGGCACTCACCGAAATGGCATCTCTGCCCCCTTCGGGCTGGTAGCGCCAGGTGAAGGAGATGTCATCTGAGACCCACTCACTGGACCAGAAGGAGCAGTGCAGGGTCACCCGGGAGCCCACAGCACCATGGACCTCCCTGTCGGTGTAAACCACGATGGCCTGGGCCGGGGACAGCACTGCAAGCACAAAGTGGGGAATCAGATGCACCTATGGGCCCAGTAAGGGATACAGAGGAAGTGAGATCAGTAGGAAATCAAGTGCTGAGTCACAGGTCAGAGGCCAATTTGGAAAAGAAACAACAAATTCTGAGCCCCAAGTCTCTGGGGACTAACTGAACAGATGAGCATAAATGCTGTGTCTGTCAAGCTCTTTAGCATGTCTGTAGAGAAGATGAAATCAGCAGTAACAGAATTCTCTTGAGGACTTCCAGAGATTGGGTTCTGTCTTTAAGTCTCACTTCTCCTTTGGGTCAGTATCTAACTTTTAAGCTATCCTTTAGATGCAGTGTTCTAAATTTTTAAAATTTATTATAAATTATACAGGTAATACATATTGTACTCTTCTTATAAACTATTCAAGCAATAGAAATAAAACAAAAGTCTCCTTTGACACTTAGCCCAACAAATTCCTTTCCTGTATTCCCTTCCAAGATGTAACAAGTTATCCATTTAATATGAATCAAACTCAGTATAAACTCAATAAACTCAAGATATACACATACTTACAACAAATAGTTTTGTGGAGTTTTTTTTTCCACATACATATTGCATTGTATTCTAGTGTCTTTTTGCTTAAGAACTTACGTATCTGGAGGAGCTTTCCCTGTTGATTCATAGATATCAATCTTATTTTAACAGCTGCATTGGATTTCACAATACAGCAAACTCAGATTTCTTGCAGAAAAAAATGAAGATAACTAGAAAATATAAGTCTTCTTCCCTGGCACAACTGTCCTCATTGCTGAATCCCTGGTTGCCATACAGCTTGCTCTTGACTGGAGAGTCAGGAAGGGAAGGGCCTCATACCCCTCTCAGCTGGGTGCAGAGCAACACCCCAAGCCTACAGCTCAGATGACCCTACATGTGAGCCCTCTATGGTTCAACTGTCCTCACCTTCCTCTTGGCCACTGTGGCCCAGTGCCATCCCCAAGACTTACCCACACAAGGAAGGTCATTCCAGAGAGACTATGTGTGTGGGCTGGCCCCAGGGAGGG
CATTATCTCAGTTGTTTACAAGTACATAAACAAGCTTACCAAAGTCAGGTAACTGTCCTGGGGATCACACAGCTAGAGAGTGGCTGGGATGTTTTAAAATTCAGATCTTGGTGAAGACAGATTCTGCGTTTTAACTCATGTAAAAGCAGAGACTGGCAGAGTTTACAACGTAGTATAATCTCACTGATTATTTGCTGAAGGTATGAATGTGTCTTGTGAGGCTATTTCAGAGTTCTTTCTAGTATACTATATAAGCCCACCCCAAAAAAACAAACTAAACAACTGAAGCCAAGTATGGAAGGTTGGGGATGGGATAAGGGGCAGGAATTATTCCCAGGAGGACTAGGAAATTCTAGACAAGGCAGCAGCTTCTGGAAATGTCAGTGTTTATTAAACATTTAAGGACATTTGGAGGTTTGAGAAGAAATATACAGAATGTAGAAAAATCCTAAGAATCCCCTGTGGCTGCAGTGCAGCCTCTTCCTCCCCCCCGCCCCCCCATTTCCCATTTGTTTTTCCTGCTTTTTGTTTGGTTGTTTAAAAACCATTTCTTAAGGCTCATTTGCCCCCTCCCCCACTCCCTGACCTATGAGGATCCATTCTCTCTCTCTGTCTCTCTCCTCAAGACCTGGAGTCCCAGAACAGTGCTCCAAAGTGGTCAGGGGGAACCAATGCTATACTGAAGTGTGAGGATCAGGGGCCCCTCTACTTGGGCTGGCTCTTCATTAAGGACTTAAGGGGGGCGTGAATTGCAAAAGCCACATGACGTCATTGGTCCTCAGTCATGGGTGTAAGGGCAGAGGATGAGCACAGGTAAACAAACAAAGAATGGATTAAAAAATAAAAAATAATAACCTAAATAAACCCTGAAGGAGAGTCTGATCTGGGTGCTCTGGGTATTAGCTGGGGGGACAGAGTATGGAGCTGGGCCACCTGGTAGAGGGGAGGGAGGGACGGGAGAGGAAACAGCCAGGGGGACAGGCTGGGGGATGCAGGAGATGGGAATGCCAGGTGGCCTGGACTTGAGGCAGAGGGTATCAAAGTCCCTTTCTTCTCAGTGCTCAGGTGGACAGGCACCAAACACACAGCCCCCGGGGCAGGTGAGGGGTAGGATTAGCTCCTGGGCTCCCAGAAAGCCAGGGGTGAAGGTGGGGGAGAATACAATTGCCTGGGGAATGAATTCTGGAATGAAACTTACATCTCAAAGGGAGGTGAGGGCAGGGCAGGGCGGGGGAGCAAAGAGGGAAAGCACCTAGACGGGGGTAAGAGGAGCCTAGGTCCCCCTGCTCTGGCAGGGCCTGGGGTGGGGGGGTGGCGATCACTTGTCCGAGTTCAGGCCCATCATGTTCTTGAGGGCGTTTTTGAGGCTGGTTCTGCTGGGGGACTTGACAGCAGGCCGGAGCTCCGGGCTCTGCTCATCCTTTCGTAGCTCCATCTCGATGACCATCACCTTTGGGCCTTTGGCGGACTCCACCCCTAACCCCCGATCCCCCGCCCGGCCCGCTAACCGCTATTTCTTATCCTTGCGAGACTCCCCCAGCCCCTTGGCCTTCTTCTCACTGACAGCTTTGGTGCTTCTGCTGTGGTCCAGCATTGCATACAGCACTGGCGTCTGGGGGAGGGGCGCACACATCAGTCACCGAGCGACTGGGGCTTGACTGTTCCCATCCCACCCCTCACTGCTGCCCGGCGGCTCCCAGGGTTCTCCTTCCCATCTTGTCTAGGCCCCAAGTCCCGCTAACCTGCCGCCCGCGCTTCGACGCGTCCTTTCCTGGCTTGTGCAATTTCCCCTTCTCCATAGCACTGCAAGAAGAGAGACTGCTGTACGTTTGGCCTCGCCGGAACCCCTTGCACCGCGGACACAGCTTCCTCTTCCCCTTGGCCCTCCCACCCACTGGAGTAGTCTCCGCCCAGATGGGGGATAGTGGGGAGAGGGGGAGGGGAGCTAGGCTCCGCCCCTTACCTGAGCCTCCTCTGCAGGGCCGCCTGCCTGCGTAGCCAGCAGTACCGAACCACGTAGAAAAGCAGCAGCAGCAACAGCACCACCCGGAGGACACCCCCGATCACAGCTCCCAGAACGACCCCGTACCTAGTTGGCACTAGGAGGGGTGGGAAAAGAAGTGGGAGAATGAGCAGGGCCCTGTATCTGTGGTTCCTAGTCCGAGTGTATGCCCTGCATTGAGGATGTAGGACTCCCAGCTAAAACTGCCTTCTGCCCACGCTCCCAGAGCCTGAATAAAGGTCCTTAGGCCGGGCTTTTTGCCTCTTCCCCCAACCTATCAGTCCTCCCTGATCCCCTCCCAAACTGCTTCCCATACCCTTGTCCCCATCCCTTCTCACACCTTTTTCAAAGACATACAGCGTGACCTGAGAGGTCTTGCCCACTATGTCTGGAGGGTTTTTGACGTCACAAGTGAACGTGCCATTGTCACTGTAGTCTAGGTTGTGTATGACAATGGAGCCATCCTTCCAGCGAGGGTCCCCTACCCACTGGATGCGCTCTTTGAAGGTCCCCACCTCGTCAATGTAGGGTTGTCCCTTGGCATAGTGGAAGATCTATGAGGAATGAGGGGAAGCATGTGAGAGGACCCTAATGAGAACACAGCTGTCAAAGCTTAGCTCCATAATTTGTTACAGAAAGAAAAAAGCAAAAAAAAAAAAAAAAAAAAAAAAGCTTCGCTCCAGCCTCAGGGTAAGGGATCTTGGGCTGGAAAGGGTAGTGCTGGAGAAGGGAGGACAATGTAGTCAGGGTGACAAAGACTGTCATTTACCTTGCCAAAGTTGGGGTTATGGCTCAAAAAGGATTTCCCCCTCCTTAGCCCAAGTTATCTTTTTTGTTGTTCTTTGAAGCACTTTCTGTTATCCAACCCCAGGATTCCCCCAGGCACTCACCGAAATGGCATCTCTGCCCCCTTCGGGCTGGTAGCGCCAGGTGAAGGAGATGTCATCTGAGACCCACTCACTGGACCAGAAGGAGCAGTGCAGGGTCACCCGGGAGCCCACAGCACCATGGACCTCCCTGTCGGTGTAAACCACGATGGCCTGGGCCGGGGACAGCACTGCAAGCACAAAGTGGGGAATCAGATGCACCTATGGGCCCAGTAAGGGATACAGAGGAAGTGAGATCAGTAGGAAATCAAGTGCTGAGTCACAGGTCAGAGGCCAATTTGGAAAAGAAACAACAAATTCTGAGCCCCAAGTCTCTGGGGACTAACTGAACAGATGAGCATAAATGCTGTGTCTGTCAAGCTCTTTAGCATGTCTGTAGAGAAGATGAAATCAGCAGTAACAGAATTCTCTTGAGGACTTCCAGAGATTGGGTTCTGTCTTTAAGTCTCACTTCTCCTTTGGGTCAGTATCTAACTTTTAAGCTATCCTTTAGATGCAGTGTTCTAAATTTTTAAAATTTATTATAAATTATACAGGTAATACATATTGTACTCTTCTTATAAACTATTCAAGCAATAGAAATAAAACAAAAGTCTCCTTTGACACTTAGCCCAACAAATTCCTTTCCTGTATTCCCTTCCAAGATGTAACAAGTTATCCATTTAATATGAATCAAACTCAGTATAAACTCAATAAACTCAAGATATACACATACTTACAACAAATAGTTTTGTGGAGTTTTTTTTTCCACATACATATTGCATTGTATTCTAGTGTCTTTTTGCTTAAGAACTTACGTATCTGGAGGAGCTTTCCCTGTTGATTCATAGATATCAATCTTATTTTAACAGCTGCATTGGATTTCACAATACAGCAAACTCAGATTTCTTGCAGAAAAAAATGAAGATAACTAGAAAATATAAGTCTTCTTCCCTGGCACAACTGTCCTCATTGCTGAATCCCTGGTTGCCATACAGCTTGCTCTTGACTGGAGAGTCAGGAAGGGAAGGGCCTCATACCCCTCTCAGCTGGGTGCAGAGCAACACCCCAAGCCTACAGCTCAGATGACCCTACATGTGAGCCCTCTATGGTTCAACTGTCCTCACCTTCCTCTTGGCCACTGTGGCCCAGTGCCATCCCCAAGACTTACCCACACAAGGAAGGTCATTCCAGAGAGACTATGTGTGTGGGCTGGCCCCAGGGAGGG
Task1_train_1999
An alteration has been detected in MPZ (myelin protein zero) on Chromosome 1. Is it pathogenic, and if so, what disease is involved?
Pathogenic; Charcot-Marie-Tooth disease type 2J
CATTATCTCAGTTGTTTACAAGTACATAAACAAGCTTACCAAAGTCAGGTAACTGTCCTGGGGATCACACAGCTAGAGAGTGGCTGGGATGTTTTAAAATTCAGATCTTGGTGAAGACAGATTCTGCGTTTTAACTCATGTAAAAGCAGAGACTGGCAGAGTTTACAACGTAGTATAATCTCACTGATTATTTGCTGAAGGTATGAATGTGTCTTGTGAGGCTATTTCAGAGTTCTTTCTAGTATACTATATAAGCCCACCCCAAAAAAACAAACTAAACAACTGAAGCCAAGTATGGAAGGTTGGGGATGGGATAAGGGGCAGGAATTATTCCCAGGAGGACTAGGAAATTCTAGACAAGGCAGCAGCTTCTGGAAATGTCAGTGTTTATTAAACATTTAAGGACATTTGGAGGTTTGAGAAGAAATATACAGAATGTAGAAAAATCCTAAGAATCCCCTGTGGCTGCAGTGCAGCCTCTTCCTCCCCCCCGCCCCCCCATTTCCCATTTGTTTTTCCTGCTTTTTGTTTGGTTGTTTAAAAACCATTTCTTAAGGCTCATTTGCCCCCTCCCCCACTCCCTGACCTATGAGGATCCATTCTCTCTCTCTGTCTCTCTCCTCAAGACCTGGAGTCCCAGAACAGTGCTCCAAAGTGGTCAGGGGGAACCAATGCTATACTGAAGTGTGAGGATCAGGGGCCCCTCTACTTGGGCTGGCTCTTCATTAAGGACTTAAGGGGGGCGTGAATTGCAAAAGCCACATGACGTCATTGGTCCTCAGTCATGGGTGTAAGGGCAGAGGATGAGCACAGGTAAACAAACAAAGAATGGATTAAAAAATAAAAAATAATAACCTAAATAAACCCTGAAGGAGAGTCTGATCTGGGTGCTCTGGGTATTAGCTGGGGGGACAGAGTATGGAGCTGGGCCACCTGGTAGAGGGGAGGGAGGGACGGGAGAGGAAACAGCCAGGGGGACAGGCTGGGGGATGCAGGAGATGGGAATGCCAGGTGGCCTGGACTTGAGGCAGAGGGTATCAAAGTCCCTTTCTTCTCAGTGCTCAGGTGGACAGGCACCAAACACACAGCCCCCGGGGCAGGTGAGGGGTAGGATTAGCTCCTGGGCTCCCAGAAAGCCAGGGGTGAAGGTGGGGGAGAATACAATTGCCTGGGGAATGAATTCTGGAATGAAACTTACATCTCAAAGGGAGGTGAGGGCAGGGCAGGGCGGGGGAGCAAAGAGGGAAAGCACCTAGACGGGGGTAAGAGGAGCCTAGGTCCCCCTGCTCTGGCAGGGCCTGGGGTGGGGGGGTGGCGATCACTTGTCCGAGTTCAGGCCCATCATGTTCTTGAGGGCGTTTTTGAGGCTGGTTCTGCTGGGGGACTTGACAGCAGGCCGGAGCTCCGGGCTCTGCTCATCCTTTCGTAGCTCCATCTCGATGACCATCACCTTTGGGCCTTTGGCGGACTCCACCCCTAACCCCCGATCCCCCGCCCGGCCCGCTAACCGCTATTTCTTATCCTTGCGAGACTCCCCCAGCCCCTTGGCCTTCTTCTCACTGACAGCTTTGGTGCTTCTGCTGTGGTCCAGCATTGCATACAGCACTGGCGTCTGGGGGAGGGGCGCACACATCAGTCACCGAGCGACTGGGGCTTGACTGTTCCCATCCCACCCCTCACTGCTGCCCGGCGGCTCCCAGGGTTCTCCTTCCCATCTTGTCTAGGCCCCAAGTCCCGCTAACCTGCCGCCCGCGCTTCGACGCGTCCTTTCCTGGCTTGTGCAATTTCCCCTTCTCCATAGCACTGCAAGAAGAGAGACTGCTGTACGTTTGGCCTCGCCGGAACCCCTTGCACCGCGGACACAGCTTCCTCTTCCCCTTGGCCCTCCCACCCACTGGAGTAGTCTCCGCCCAGATGGGGGATAGTGGGGAGAGGGGGAGGGGAGCTAGGCTCCGCCCCTTACCTGAGCCTCCTCTGCAGGGCCGCCTGCCTGCGTAGCCAGCAGTACCGAACCACGTAGAAAAGCAGCAGCAGCAACAGCACCACCCCGAGGACACCCCCGATCACAGCTCCCAGAACGACCCCGTACCTAGTTGGCACTAGGAGGGGTGGGAAAAGAAGTGGGAGAATGAGCAGGGCCCTGTATCTGTGGTTCCTAGTCCGAGTGTATGCCCTGCATTGAGGATGTAGGACTCCCAGCTAAAACTGCCTTCTGCCCACGCTCCCAGAGCCTGAATAAAGGTCCTTAGGCCGGGCTTTTTGCCTCTTCCCCCAACCTATCAGTCCTCCCTGATCCCCTCCCAAACTGCTTCCCATACCCTTGTCCCCATCCCTTCTCACACCTTTTTCAAAGACATACAGCGTGACCTGAGAGGTCTTGCCCACTATGTCTGGAGGGTTTTTGACGTCACAAGTGAACGTGCCATTGTCACTGTAGTCTAGGTTGTGTATGACAATGGAGCCATCCTTCCAGCGAGGGTCCCCTACCCACTGGATGCGCTCTTTGAAGGTCCCCACCTCGTCAATGTAGGGTTGTCCCTTGGCATAGTGGAAGATCTATGAGGAATGAGGGGAAGCATGTGAGAGGACCCTAATGAGAACACAGCTGTCAAAGCTTAGCTCCATAATTTGTTACAGAAAGAAAAAAGCAAAAAAAAAAAAAAAAAAAAAAAAGCTTCGCTCCAGCCTCAGGGTAAGGGATCTTGGGCTGGAAAGGGTAGTGCTGGAGAAGGGAGGACAATGTAGTCAGGGTGACAAAGACTGTCATTTACCTTGCCAAAGTTGGGGTTATGGCTCAAAAAGGATTTCCCCCTCCTTAGCCCAAGTTATCTTTTTTGTTGTTCTTTGAAGCACTTTCTGTTATCCAACCCCAGGATTCCCCCAGGCACTCACCGAAATGGCATCTCTGCCCCCTTCGGGCTGGTAGCGCCAGGTGAAGGAGATGTCATCTGAGACCCACTCACTGGACCAGAAGGAGCAGTGCAGGGTCACCCGGGAGCCCACAGCACCATGGACCTCCCTGTCGGTGTAAACCACGATGGCCTGGGCCGGGGACAGCACTGCAAGCACAAAGTGGGGAATCAGATGCACCTATGGGCCCAGTAAGGGATACAGAGGAAGTGAGATCAGTAGGAAATCAAGTGCTGAGTCACAGGTCAGAGGCCAATTTGGAAAAGAAACAACAAATTCTGAGCCCCAAGTCTCTGGGGACTAACTGAACAGATGAGCATAAATGCTGTGTCTGTCAAGCTCTTTAGCATGTCTGTAGAGAAGATGAAATCAGCAGTAACAGAATTCTCTTGAGGACTTCCAGAGATTGGGTTCTGTCTTTAAGTCTCACTTCTCCTTTGGGTCAGTATCTAACTTTTAAGCTATCCTTTAGATGCAGTGTTCTAAATTTTTAAAATTTATTATAAATTATACAGGTAATACATATTGTACTCTTCTTATAAACTATTCAAGCAATAGAAATAAAACAAAAGTCTCCTTTGACACTTAGCCCAACAAATTCCTTTCCTGTATTCCCTTCCAAGATGTAACAAGTTATCCATTTAATATGAATCAAACTCAGTATAAACTCAATAAACTCAAGATATACACATACTTACAACAAATAGTTTTGTGGAGTTTTTTTTTCCACATACATATTGCATTGTATTCTAGTGTCTTTTTGCTTAAGAACTTACGTATCTGGAGGAGCTTTCCCTGTTGATTCATAGATATCAATCTTATTTTAACAGCTGCATTGGATTTCACAATACAGCAAACTCAGATTTCTTGCAGAAAAAAATGAAGATAACTAGAAAATATAAGTCTTCTTCCCTGGCACAACTGTCCTCATTGCTGAATCCCTGGTTGCCATACAGCTTGCTCTTGACTGGAGAGTCAGGAAGGGAAGGGCCTCATACCCCTCTCAGCTGGGTGCAGAGCAACACCCCAAGCCTACAGCTCAGATGACCCTACATGTGAGCCCTCTATGGTTCAACTGTCCTCACCTTCCTCTTGGCCACTGTGGCCCAGTGCCATCCCCAAGACTTACCCACACAAGGAAGGTCATTCCAGAGAGACTATGTGTGTGGGCTGGCCCCAGGGAGGG
CATTATCTCAGTTGTTTACAAGTACATAAACAAGCTTACCAAAGTCAGGTAACTGTCCTGGGGATCACACAGCTAGAGAGTGGCTGGGATGTTTTAAAATTCAGATCTTGGTGAAGACAGATTCTGCGTTTTAACTCATGTAAAAGCAGAGACTGGCAGAGTTTACAACGTAGTATAATCTCACTGATTATTTGCTGAAGGTATGAATGTGTCTTGTGAGGCTATTTCAGAGTTCTTTCTAGTATACTATATAAGCCCACCCCAAAAAAACAAACTAAACAACTGAAGCCAAGTATGGAAGGTTGGGGATGGGATAAGGGGCAGGAATTATTCCCAGGAGGACTAGGAAATTCTAGACAAGGCAGCAGCTTCTGGAAATGTCAGTGTTTATTAAACATTTAAGGACATTTGGAGGTTTGAGAAGAAATATACAGAATGTAGAAAAATCCTAAGAATCCCCTGTGGCTGCAGTGCAGCCTCTTCCTCCCCCCCGCCCCCCCATTTCCCATTTGTTTTTCCTGCTTTTTGTTTGGTTGTTTAAAAACCATTTCTTAAGGCTCATTTGCCCCCTCCCCCACTCCCTGACCTATGAGGATCCATTCTCTCTCTCTGTCTCTCTCCTCAAGACCTGGAGTCCCAGAACAGTGCTCCAAAGTGGTCAGGGGGAACCAATGCTATACTGAAGTGTGAGGATCAGGGGCCCCTCTACTTGGGCTGGCTCTTCATTAAGGACTTAAGGGGGGCGTGAATTGCAAAAGCCACATGACGTCATTGGTCCTCAGTCATGGGTGTAAGGGCAGAGGATGAGCACAGGTAAACAAACAAAGAATGGATTAAAAAATAAAAAATAATAACCTAAATAAACCCTGAAGGAGAGTCTGATCTGGGTGCTCTGGGTATTAGCTGGGGGGACAGAGTATGGAGCTGGGCCACCTGGTAGAGGGGAGGGAGGGACGGGAGAGGAAACAGCCAGGGGGACAGGCTGGGGGATGCAGGAGATGGGAATGCCAGGTGGCCTGGACTTGAGGCAGAGGGTATCAAAGTCCCTTTCTTCTCAGTGCTCAGGTGGACAGGCACCAAACACACAGCCCCCGGGGCAGGTGAGGGGTAGGATTAGCTCCTGGGCTCCCAGAAAGCCAGGGGTGAAGGTGGGGGAGAATACAATTGCCTGGGGAATGAATTCTGGAATGAAACTTACATCTCAAAGGGAGGTGAGGGCAGGGCAGGGCGGGGGAGCAAAGAGGGAAAGCACCTAGACGGGGGTAAGAGGAGCCTAGGTCCCCCTGCTCTGGCAGGGCCTGGGGTGGGGGGGTGGCGATCACTTGTCCGAGTTCAGGCCCATCATGTTCTTGAGGGCGTTTTTGAGGCTGGTTCTGCTGGGGGACTTGACAGCAGGCCGGAGCTCCGGGCTCTGCTCATCCTTTCGTAGCTCCATCTCGATGACCATCACCTTTGGGCCTTTGGCGGACTCCACCCCTAACCCCCGATCCCCCGCCCGGCCCGCTAACCGCTATTTCTTATCCTTGCGAGACTCCCCCAGCCCCTTGGCCTTCTTCTCACTGACAGCTTTGGTGCTTCTGCTGTGGTCCAGCATTGCATACAGCACTGGCGTCTGGGGGAGGGGCGCACACATCAGTCACCGAGCGACTGGGGCTTGACTGTTCCCATCCCACCCCTCACTGCTGCCCGGCGGCTCCCAGGGTTCTCCTTCCCATCTTGTCTAGGCCCCAAGTCCCGCTAACCTGCCGCCCGCGCTTCGACGCGTCCTTTCCTGGCTTGTGCAATTTCCCCTTCTCCATAGCACTGCAAGAAGAGAGACTGCTGTACGTTTGGCCTCGCCGGAACCCCTTGCACCGCGGACACAGCTTCCTCTTCCCCTTGGCCCTCCCACCCACTGGAGTAGTCTCCGCCCAGATGGGGGATAGTGGGGAGAGGGGGAGGGGAGCTAGGCTCCGCCCCTTACCTGAGCCTCCTCTGCAGGGCCGCCTGCCTGCGTAGCCAGCAGTACCGAACCACGTAGAAAAGCAGCAGCAGCAACAGCACCACCCGGAGGACACCCCCGATCACAGCTCCCAGAACGACCCCGTACCTAGTTGGCACTAGGAGGGGTGGGAAAAGAAGTGGGAGAATGAGCAGGGCCCTGTATCTGTGGTTCCTAGTCCGAGTGTATGCCCTGCATTGAGGATGTAGGACTCCCAGCTAAAACTGCCTTCTGCCCACGCTCCCAGAGCCTGAATAAAGGTCCTTAGGCCGGGCTTTTTGCCTCTTCCCCCAACCTATCAGTCCTCCCTGATCCCCTCCCAAACTGCTTCCCATACCCTTGTCCCCATCCCTTCTCACACCTTTTTCAAAGACATACAGCGTGACCTGAGAGGTCTTGCCCACTATGTCTGGAGGGTTTTTGACGTCACAAGTGAACGTGCCATTGTCACTGTAGTCTAGGTTGTGTATGACAATGGAGCCATCCTTCCAGCGAGGGTCCCCTACCCACTGGATGCGCTCTTTGAAGGTCCCCACCTCGTCAATGTAGGGTTGTCCCTTGGCATAGTGGAAGATCTATGAGGAATGAGGGGAAGCATGTGAGAGGACCCTAATGAGAACACAGCTGTCAAAGCTTAGCTCCATAATTTGTTACAGAAAGAAAAAAGCAAAAAAAAAAAAAAAAAAAAAAAAGCTTCGCTCCAGCCTCAGGGTAAGGGATCTTGGGCTGGAAAGGGTAGTGCTGGAGAAGGGAGGACAATGTAGTCAGGGTGACAAAGACTGTCATTTACCTTGCCAAAGTTGGGGTTATGGCTCAAAAAGGATTTCCCCCTCCTTAGCCCAAGTTATCTTTTTTGTTGTTCTTTGAAGCACTTTCTGTTATCCAACCCCAGGATTCCCCCAGGCACTCACCGAAATGGCATCTCTGCCCCCTTCGGGCTGGTAGCGCCAGGTGAAGGAGATGTCATCTGAGACCCACTCACTGGACCAGAAGGAGCAGTGCAGGGTCACCCGGGAGCCCACAGCACCATGGACCTCCCTGTCGGTGTAAACCACGATGGCCTGGGCCGGGGACAGCACTGCAAGCACAAAGTGGGGAATCAGATGCACCTATGGGCCCAGTAAGGGATACAGAGGAAGTGAGATCAGTAGGAAATCAAGTGCTGAGTCACAGGTCAGAGGCCAATTTGGAAAAGAAACAACAAATTCTGAGCCCCAAGTCTCTGGGGACTAACTGAACAGATGAGCATAAATGCTGTGTCTGTCAAGCTCTTTAGCATGTCTGTAGAGAAGATGAAATCAGCAGTAACAGAATTCTCTTGAGGACTTCCAGAGATTGGGTTCTGTCTTTAAGTCTCACTTCTCCTTTGGGTCAGTATCTAACTTTTAAGCTATCCTTTAGATGCAGTGTTCTAAATTTTTAAAATTTATTATAAATTATACAGGTAATACATATTGTACTCTTCTTATAAACTATTCAAGCAATAGAAATAAAACAAAAGTCTCCTTTGACACTTAGCCCAACAAATTCCTTTCCTGTATTCCCTTCCAAGATGTAACAAGTTATCCATTTAATATGAATCAAACTCAGTATAAACTCAATAAACTCAAGATATACACATACTTACAACAAATAGTTTTGTGGAGTTTTTTTTTCCACATACATATTGCATTGTATTCTAGTGTCTTTTTGCTTAAGAACTTACGTATCTGGAGGAGCTTTCCCTGTTGATTCATAGATATCAATCTTATTTTAACAGCTGCATTGGATTTCACAATACAGCAAACTCAGATTTCTTGCAGAAAAAAATGAAGATAACTAGAAAATATAAGTCTTCTTCCCTGGCACAACTGTCCTCATTGCTGAATCCCTGGTTGCCATACAGCTTGCTCTTGACTGGAGAGTCAGGAAGGGAAGGGCCTCATACCCCTCTCAGCTGGGTGCAGAGCAACACCCCAAGCCTACAGCTCAGATGACCCTACATGTGAGCCCTCTATGGTTCAACTGTCCTCACCTTCCTCTTGGCCACTGTGGCCCAGTGCCATCCCCAAGACTTACCCACACAAGGAAGGTCATTCCAGAGAGACTATGTGTGTGGGCTGGCCCCAGGGAGGG